#Format: diseaseId<tab>gene-symbol<tab>gene-id(entrez)<tab>HPO-ID<tab>HPO-term-name
OMIM:614652	PDSS2	57107	HP:0002133	Status epilepticus
OMIM:614652	PDSS2	57107	HP:0000093	Proteinuria
OMIM:614652	PDSS2	57107	HP:0100704	Cortical visual impairment
OMIM:614652	PDSS2	57107	HP:0002151	Increased serum lactate
OMIM:614652	PDSS2	57107	HP:0000007	Autosomal recessive inheritance
OMIM:614652	PDSS2	57107	HP:0000100	Nephrotic syndrome
OMIM:614652	PDSS2	57107	HP:0001319	Neonatal hypotonia
OMIM:614652	PDSS2	57107	HP:0011968	Feeding difficulties
OMIM:614652	PDSS2	57107	HP:0000969	Edema
OMIM:614652	COQ2	27235	HP:0002133	Status epilepticus
OMIM:614652	COQ2	27235	HP:0000093	Proteinuria
OMIM:614652	COQ2	27235	HP:0100704	Cortical visual impairment
OMIM:614652	COQ2	27235	HP:0002151	Increased serum lactate
OMIM:614652	COQ2	27235	HP:0000007	Autosomal recessive inheritance
OMIM:614652	COQ2	27235	HP:0000100	Nephrotic syndrome
OMIM:614652	COQ2	27235	HP:0001319	Neonatal hypotonia
OMIM:614652	COQ2	27235	HP:0011968	Feeding difficulties
OMIM:614652	COQ2	27235	HP:0000969	Edema
OMIM:614508	RAD51	5888	HP:0000006	Autosomal dominant inheritance
OMIM:614508	RAD51	5888	HP:0003829	Incomplete penetrance
OMIM:614508	DCC	1630	HP:0000006	Autosomal dominant inheritance
OMIM:614508	DCC	1630	HP:0003829	Incomplete penetrance
OMIM:300419	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300419	ZNF711	7552	HP:0001419	X-linked recessive inheritance
OMIM:300419	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300419	IL1RAPL1	11141	HP:0001419	X-linked recessive inheritance
OMIM:300419	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300419	ACSL4	2182	HP:0001419	X-linked recessive inheritance
OMIM:300419	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300419	PAK3	5063	HP:0001419	X-linked recessive inheritance
OMIM:300419	SYP	6855	HP:0001249	Intellectual disability
OMIM:300419	SYP	6855	HP:0001419	X-linked recessive inheritance
OMIM:300419	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300419	FTSJ1	24140	HP:0001419	X-linked recessive inheritance
OMIM:300419	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300419	DLG3	1741	HP:0001419	X-linked recessive inheritance
OMIM:300419	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300419	PTCHD1	139411	HP:0001419	X-linked recessive inheritance
OMIM:300419	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300419	UPF3B	65109	HP:0001419	X-linked recessive inheritance
OMIM:300419	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300419	ZNF81	347344	HP:0001419	X-linked recessive inheritance
OMIM:300419	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300419	RAB39B	116442	HP:0001419	X-linked recessive inheritance
OMIM:300419	DMD	1756	HP:0001249	Intellectual disability
OMIM:300419	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:300419	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300419	MAGT1	84061	HP:0001419	X-linked recessive inheritance
OMIM:300419	MID2	11043	HP:0001249	Intellectual disability
OMIM:300419	MID2	11043	HP:0001419	X-linked recessive inheritance
OMIM:300419	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300419	GDI1	2664	HP:0001419	X-linked recessive inheritance
OMIM:300419	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300419	ZNF41	7592	HP:0001419	X-linked recessive inheritance
OMIM:300419	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300419	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300419	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300419	HCFC1	3054	HP:0001419	X-linked recessive inheritance
OMIM:300419	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300419	USP9X	8239	HP:0001419	X-linked recessive inheritance
OMIM:300419	MED12	9968	HP:0001249	Intellectual disability
OMIM:300419	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:300419	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300419	ZNF674	641339	HP:0001419	X-linked recessive inheritance
OMIM:300419	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300419	ARHGEF6	9459	HP:0001419	X-linked recessive inheritance
OMIM:300419	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300419	RPS6KA3	6197	HP:0001419	X-linked recessive inheritance
OMIM:300419	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300419	IQSEC2	23096	HP:0001419	X-linked recessive inheritance
OMIM:300419	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300419	AGTR2	186	HP:0001419	X-linked recessive inheritance
OMIM:300419	ARX	170302	HP:0001249	Intellectual disability
OMIM:300419	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:300419	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300419	ALG13	79868	HP:0001419	X-linked recessive inheritance
OMIM:300419	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300419	TSPAN7	7102	HP:0001419	X-linked recessive inheritance
OMIM:162091	NF2	4771	HP:0001428	Somatic mutation
OMIM:162091	NF2	4771	HP:0000006	Autosomal dominant inheritance
OMIM:162091	NF2	4771	HP:0003828	Variable expressivity
OMIM:162091	NF2	4771	HP:0003829	Incomplete penetrance
OMIM:162091	NF2	4771	HP:0002858	Meningioma
OMIM:162091	NF2	4771	HP:0000925	Abnormality of the vertebral column
OMIM:162091	NF2	4771	HP:0000951	Abnormality of the skin
OMIM:162091	SMARCB1	6598	HP:0001428	Somatic mutation
OMIM:162091	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
OMIM:162091	SMARCB1	6598	HP:0003828	Variable expressivity
OMIM:162091	SMARCB1	6598	HP:0003829	Incomplete penetrance
OMIM:162091	SMARCB1	6598	HP:0002858	Meningioma
OMIM:162091	SMARCB1	6598	HP:0000925	Abnormality of the vertebral column
OMIM:162091	SMARCB1	6598	HP:0000951	Abnormality of the skin
OMIM:162091	LZTR1	8216	HP:0001428	Somatic mutation
OMIM:162091	LZTR1	8216	HP:0000006	Autosomal dominant inheritance
OMIM:162091	LZTR1	8216	HP:0003828	Variable expressivity
OMIM:162091	LZTR1	8216	HP:0003829	Incomplete penetrance
OMIM:162091	LZTR1	8216	HP:0002858	Meningioma
OMIM:162091	LZTR1	8216	HP:0000925	Abnormality of the vertebral column
OMIM:162091	LZTR1	8216	HP:0000951	Abnormality of the skin
OMIM:162091	COQ6	51004	HP:0001428	Somatic mutation
OMIM:162091	COQ6	51004	HP:0000006	Autosomal dominant inheritance
OMIM:162091	COQ6	51004	HP:0003828	Variable expressivity
OMIM:162091	COQ6	51004	HP:0003829	Incomplete penetrance
OMIM:162091	COQ6	51004	HP:0002858	Meningioma
OMIM:162091	COQ6	51004	HP:0000925	Abnormality of the vertebral column
OMIM:162091	COQ6	51004	HP:0000951	Abnormality of the skin
OMIM:613743	CYP11A1	1583	HP:0000953	Hyperpigmentation of the skin
OMIM:613743	CYP11A1	1583	HP:0000846	Adrenal insufficiency
OMIM:613743	CYP11A1	1583	HP:0012245	Sex reversal
OMIM:601894	FN1	2335	HP:0000093	Proteinuria
OMIM:601894	FN1	2335	HP:0000100	Nephrotic syndrome
OMIM:601894	FN1	2335	HP:0003774	Stage 5 chronic kidney disease
OMIM:601894	FN1	2335	HP:0000006	Autosomal dominant inheritance
OMIM:601894	FN1	2335	HP:0003677	Slow progression
OMIM:601894	FN1	2335	HP:0000822	Hypertension
OMIM:613068	FOLR1	2348	HP:0001250	Seizures
OMIM:613068	FOLR1	2348	HP:0002376	Developmental regression
OMIM:613068	FOLR1	2348	HP:0000007	Autosomal recessive inheritance
OMIM:613068	FOLR1	2348	HP:0001249	Intellectual disability
OMIM:613068	FOLR1	2348	HP:0002180	Neurodegeneration
OMIM:606963	MMP1	4312	HP:0006510	Chronic obstructive pulmonary disease
OMIM:614921	PGM1	5236	HP:0000175	Cleft palate
OMIM:614921	PGM1	5236	HP:0000347	Micrognathia
OMIM:614921	PGM1	5236	HP:0001397	Hepatic steatosis
OMIM:614921	PGM1	5236	HP:0004322	Short stature
OMIM:614921	PGM1	5236	HP:0002910	Elevated hepatic transaminases
OMIM:614921	PGM1	5236	HP:0001644	Dilated cardiomyopathy
OMIM:614921	PGM1	5236	HP:0012115	Hepatitis
OMIM:614921	PGM1	5236	HP:0001324	Muscle weakness
OMIM:614921	PGM1	5236	HP:0001649	Tachycardia
OMIM:614921	PGM1	5236	HP:0003201	Rhabdomyolysis
OMIM:614921	PGM1	5236	HP:0000007	Autosomal recessive inheritance
OMIM:614921	PGM1	5236	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614921	PGM1	5236	HP:0000201	Pierre-Robin sequence
OMIM:614921	PGM1	5236	HP:0002094	Dyspnea
OMIM:614921	PGM1	5236	HP:0001943	Hypoglycemia
OMIM:614921	PGM1	5236	HP:0000193	Bifid uvula
OMIM:614921	PGM1	5236	HP:0003546	Exercise intolerance
OMIM:236730	LRIG2	9860	HP:0000010	Recurrent urinary tract infections
OMIM:236730	LRIG2	9860	HP:0000007	Autosomal recessive inheritance
OMIM:236730	LRIG2	9860	HP:0005346	Abnormal facial expression
OMIM:236730	LRIG2	9860	HP:0002019	Constipation
OMIM:236730	LRIG2	9860	HP:0000028	Cryptorchidism
OMIM:236730	LRIG2	9860	HP:0000126	Hydronephrosis
OMIM:236730	LRIG2	9860	HP:0000805	Enuresis
OMIM:236730	LRIG2	9860	HP:0001999	Abnormal facial shape
OMIM:236730	LRIG2	9860	HP:0000072	Hydroureter
OMIM:236730	HPSE2	60495	HP:0000010	Recurrent urinary tract infections
OMIM:236730	HPSE2	60495	HP:0000007	Autosomal recessive inheritance
OMIM:236730	HPSE2	60495	HP:0005346	Abnormal facial expression
OMIM:236730	HPSE2	60495	HP:0002019	Constipation
OMIM:236730	HPSE2	60495	HP:0000028	Cryptorchidism
OMIM:236730	HPSE2	60495	HP:0000126	Hydronephrosis
OMIM:236730	HPSE2	60495	HP:0000805	Enuresis
OMIM:236730	HPSE2	60495	HP:0001999	Abnormal facial shape
OMIM:236730	HPSE2	60495	HP:0000072	Hydroureter
OMIM:613075	RIN2	54453	HP:0000494	Downslanted palpebral fissures
OMIM:613075	RIN2	54453	HP:0002650	Scoliosis
OMIM:613075	RIN2	54453	HP:0000978	Bruising susceptibility
OMIM:613075	RIN2	54453	HP:0000939	Osteoporosis
OMIM:613075	RIN2	54453	HP:0000179	Thick lower lip vermilion
OMIM:613075	RIN2	54453	HP:0000954	Single transverse palmar crease
OMIM:613075	RIN2	54453	HP:0004325	Decreased body weight
OMIM:613075	RIN2	54453	HP:0001763	Pes planus
OMIM:613075	RIN2	54453	HP:0004322	Short stature
OMIM:613075	RIN2	54453	HP:0001596	Alopecia
OMIM:613075	RIN2	54453	HP:0008064	Ichthyosis
OMIM:613075	RIN2	54453	HP:0001620	High pitched voice
OMIM:613075	RIN2	54453	HP:0002110	Bronchiectasis
OMIM:613075	RIN2	54453	HP:0000212	Gingival overgrowth
OMIM:613075	RIN2	54453	HP:0001252	Muscular hypotonia
OMIM:613075	RIN2	54453	HP:0000218	High palate
OMIM:613075	RIN2	54453	HP:0000766	Abnormality of the sternum
OMIM:613075	RIN2	54453	HP:0008661	Urethral stenosis
OMIM:613075	RIN2	54453	HP:0000973	Cutis laxa
OMIM:613075	RIN2	54453	HP:0001382	Joint hypermobility
OMIM:613075	RIN2	54453	HP:0001537	Umbilical hernia
OMIM:613075	RIN2	54453	HP:0003010	Prolonged bleeding time
OMIM:613075	RIN2	54453	HP:0001156	Brachydactyly syndrome
OMIM:613075	RIN2	54453	HP:0000535	Sparse eyebrow
OMIM:613075	RIN2	54453	HP:0000974	Hyperextensible skin
OMIM:613075	RIN2	54453	HP:0000028	Cryptorchidism
OMIM:613075	RIN2	54453	HP:0008070	Sparse hair
OMIM:613075	RIN2	54453	HP:0000280	Coarse facial features
OMIM:613075	RIN2	54453	HP:0000007	Autosomal recessive inheritance
OMIM:613075	RIN2	54453	HP:0000815	Hypergonadotropic hypogonadism
OMIM:607596	TSEN54	283989	HP:0000007	Autosomal recessive inheritance
OMIM:607596	TSEN54	283989	HP:0003577	Congenital onset
OMIM:607596	TSEN54	283989	HP:0007269	Spinal muscular atrophy
OMIM:607596	TSEN54	283989	HP:0002398	Degeneration of anterior horn cells
OMIM:607596	TSEN54	283989	HP:0012110	Hypoplasia of the pons
OMIM:607596	TSEN54	283989	HP:0001249	Intellectual disability
OMIM:607596	TSEN54	283989	HP:0006850	Hypoplasia of the ventral pons
OMIM:607596	TSEN54	283989	HP:0003445	EMG: neuropathic changes
OMIM:607596	TSEN54	283989	HP:0001251	Ataxia
OMIM:607596	TSEN54	283989	HP:0003676	Progressive
OMIM:607596	TSEN54	283989	HP:0001324	Muscle weakness
OMIM:607596	TSEN54	283989	HP:0001760	Abnormality of the foot
OMIM:607596	TSEN54	283989	HP:0001263	Global developmental delay
OMIM:607596	TSEN54	283989	HP:0001347	Hyperreflexia
OMIM:607596	TSEN54	283989	HP:0001321	Cerebellar hypoplasia
OMIM:607596	TSEN54	283989	HP:0200147	Neuronal loss in basal ganglia
OMIM:607596	TSEN54	283989	HP:0002380	Fasciculations
OMIM:607596	TSEN54	283989	HP:0006999	Basal ganglia gliosis
OMIM:607596	TSEN54	283989	HP:0002803	Congenital contracture
OMIM:607596	TSEN54	283989	HP:0001252	Muscular hypotonia
OMIM:607596	TSEN54	283989	HP:0008872	Feeding difficulties in infancy
OMIM:607596	TSEN54	283989	HP:0002093	Respiratory insufficiency
OMIM:607596	EXOSC3	51010	HP:0000007	Autosomal recessive inheritance
OMIM:607596	EXOSC3	51010	HP:0003577	Congenital onset
OMIM:607596	EXOSC3	51010	HP:0007269	Spinal muscular atrophy
OMIM:607596	EXOSC3	51010	HP:0002398	Degeneration of anterior horn cells
OMIM:607596	EXOSC3	51010	HP:0012110	Hypoplasia of the pons
OMIM:607596	EXOSC3	51010	HP:0001249	Intellectual disability
OMIM:607596	EXOSC3	51010	HP:0006850	Hypoplasia of the ventral pons
OMIM:607596	EXOSC3	51010	HP:0003445	EMG: neuropathic changes
OMIM:607596	EXOSC3	51010	HP:0001251	Ataxia
OMIM:607596	EXOSC3	51010	HP:0003676	Progressive
OMIM:607596	EXOSC3	51010	HP:0001324	Muscle weakness
OMIM:607596	EXOSC3	51010	HP:0001760	Abnormality of the foot
OMIM:607596	EXOSC3	51010	HP:0001263	Global developmental delay
OMIM:607596	EXOSC3	51010	HP:0001347	Hyperreflexia
OMIM:607596	EXOSC3	51010	HP:0001321	Cerebellar hypoplasia
OMIM:607596	EXOSC3	51010	HP:0200147	Neuronal loss in basal ganglia
OMIM:607596	EXOSC3	51010	HP:0002380	Fasciculations
OMIM:607596	EXOSC3	51010	HP:0006999	Basal ganglia gliosis
OMIM:607596	EXOSC3	51010	HP:0002803	Congenital contracture
OMIM:607596	EXOSC3	51010	HP:0001252	Muscular hypotonia
OMIM:607596	EXOSC3	51010	HP:0008872	Feeding difficulties in infancy
OMIM:607596	EXOSC3	51010	HP:0002093	Respiratory insufficiency
OMIM:607596	VRK1	7443	HP:0000007	Autosomal recessive inheritance
OMIM:607596	VRK1	7443	HP:0003577	Congenital onset
OMIM:607596	VRK1	7443	HP:0007269	Spinal muscular atrophy
OMIM:607596	VRK1	7443	HP:0002398	Degeneration of anterior horn cells
OMIM:607596	VRK1	7443	HP:0012110	Hypoplasia of the pons
OMIM:607596	VRK1	7443	HP:0001249	Intellectual disability
OMIM:607596	VRK1	7443	HP:0006850	Hypoplasia of the ventral pons
OMIM:607596	VRK1	7443	HP:0003445	EMG: neuropathic changes
OMIM:607596	VRK1	7443	HP:0001251	Ataxia
OMIM:607596	VRK1	7443	HP:0003676	Progressive
OMIM:607596	VRK1	7443	HP:0001324	Muscle weakness
OMIM:607596	VRK1	7443	HP:0001760	Abnormality of the foot
OMIM:607596	VRK1	7443	HP:0001263	Global developmental delay
OMIM:607596	VRK1	7443	HP:0001347	Hyperreflexia
OMIM:607596	VRK1	7443	HP:0001321	Cerebellar hypoplasia
OMIM:607596	VRK1	7443	HP:0200147	Neuronal loss in basal ganglia
OMIM:607596	VRK1	7443	HP:0002380	Fasciculations
OMIM:607596	VRK1	7443	HP:0006999	Basal ganglia gliosis
OMIM:607596	VRK1	7443	HP:0002803	Congenital contracture
OMIM:607596	VRK1	7443	HP:0001252	Muscular hypotonia
OMIM:607596	VRK1	7443	HP:0008872	Feeding difficulties in infancy
OMIM:607596	VRK1	7443	HP:0002093	Respiratory insufficiency
OMIM:607596	EXOSC8	11340	HP:0000007	Autosomal recessive inheritance
OMIM:607596	EXOSC8	11340	HP:0003577	Congenital onset
OMIM:607596	EXOSC8	11340	HP:0007269	Spinal muscular atrophy
OMIM:607596	EXOSC8	11340	HP:0002398	Degeneration of anterior horn cells
OMIM:607596	EXOSC8	11340	HP:0012110	Hypoplasia of the pons
OMIM:607596	EXOSC8	11340	HP:0001249	Intellectual disability
OMIM:607596	EXOSC8	11340	HP:0006850	Hypoplasia of the ventral pons
OMIM:607596	EXOSC8	11340	HP:0003445	EMG: neuropathic changes
OMIM:607596	EXOSC8	11340	HP:0001251	Ataxia
OMIM:607596	EXOSC8	11340	HP:0003676	Progressive
OMIM:607596	EXOSC8	11340	HP:0001324	Muscle weakness
OMIM:607596	EXOSC8	11340	HP:0001760	Abnormality of the foot
OMIM:607596	EXOSC8	11340	HP:0001263	Global developmental delay
OMIM:607596	EXOSC8	11340	HP:0001347	Hyperreflexia
OMIM:607596	EXOSC8	11340	HP:0001321	Cerebellar hypoplasia
OMIM:607596	EXOSC8	11340	HP:0200147	Neuronal loss in basal ganglia
OMIM:607596	EXOSC8	11340	HP:0002380	Fasciculations
OMIM:607596	EXOSC8	11340	HP:0006999	Basal ganglia gliosis
OMIM:607596	EXOSC8	11340	HP:0002803	Congenital contracture
OMIM:607596	EXOSC8	11340	HP:0001252	Muscular hypotonia
OMIM:607596	EXOSC8	11340	HP:0008872	Feeding difficulties in infancy
OMIM:607596	EXOSC8	11340	HP:0002093	Respiratory insufficiency
OMIM:607596	RARS2	57038	HP:0000007	Autosomal recessive inheritance
OMIM:607596	RARS2	57038	HP:0003577	Congenital onset
OMIM:607596	RARS2	57038	HP:0007269	Spinal muscular atrophy
OMIM:607596	RARS2	57038	HP:0002398	Degeneration of anterior horn cells
OMIM:607596	RARS2	57038	HP:0012110	Hypoplasia of the pons
OMIM:607596	RARS2	57038	HP:0001249	Intellectual disability
OMIM:607596	RARS2	57038	HP:0006850	Hypoplasia of the ventral pons
OMIM:607596	RARS2	57038	HP:0003445	EMG: neuropathic changes
OMIM:607596	RARS2	57038	HP:0001251	Ataxia
OMIM:607596	RARS2	57038	HP:0003676	Progressive
OMIM:607596	RARS2	57038	HP:0001324	Muscle weakness
OMIM:607596	RARS2	57038	HP:0001760	Abnormality of the foot
OMIM:607596	RARS2	57038	HP:0001263	Global developmental delay
OMIM:607596	RARS2	57038	HP:0001347	Hyperreflexia
OMIM:607596	RARS2	57038	HP:0001321	Cerebellar hypoplasia
OMIM:607596	RARS2	57038	HP:0200147	Neuronal loss in basal ganglia
OMIM:607596	RARS2	57038	HP:0002380	Fasciculations
OMIM:607596	RARS2	57038	HP:0006999	Basal ganglia gliosis
OMIM:607596	RARS2	57038	HP:0002803	Congenital contracture
OMIM:607596	RARS2	57038	HP:0001252	Muscular hypotonia
OMIM:607596	RARS2	57038	HP:0008872	Feeding difficulties in infancy
OMIM:607596	RARS2	57038	HP:0002093	Respiratory insufficiency
OMIM:270970	SPTA1	6708	HP:0000007	Autosomal recessive inheritance
OMIM:270970	SPTA1	6708	HP:0001878	Hemolytic anemia
OMIM:270970	SPTB	6710	HP:0000007	Autosomal recessive inheritance
OMIM:270970	SPTB	6710	HP:0001878	Hemolytic anemia
OMIM:270970	EPB42	2038	HP:0000007	Autosomal recessive inheritance
OMIM:270970	EPB42	2038	HP:0001878	Hemolytic anemia
OMIM:270970	SLC4A1	6521	HP:0000007	Autosomal recessive inheritance
OMIM:270970	SLC4A1	6521	HP:0001878	Hemolytic anemia
OMIM:270970	ANK1	286	HP:0000007	Autosomal recessive inheritance
OMIM:270970	ANK1	286	HP:0001878	Hemolytic anemia
OMIM:615561	CFB	629	HP:0005416	Decreased serum complement factor B
OMIM:615561	CFB	629	HP:0002090	Pneumonia
OMIM:615561	CFB	629	HP:0005381	Recurrent meningococcal disease
OMIM:123320	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:123320	CAV3	859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:123320	CAV3	859	HP:0003710	Exercise-induced muscle cramps
OMIM:607459	POLG	5428	HP:0000716	Depression
OMIM:607459	POLG	5428	HP:0003812	Phenotypic variability
OMIM:607459	POLG	5428	HP:0001751	Vestibular dysfunction
OMIM:607459	POLG	5428	HP:0003701	Proximal muscle weakness
OMIM:607459	POLG	5428	HP:0100543	Cognitive impairment
OMIM:607459	POLG	5428	HP:0000508	Ptosis
OMIM:607459	POLG	5428	HP:0000639	Nystagmus
OMIM:607459	POLG	5428	HP:0001644	Dilated cardiomyopathy
OMIM:607459	POLG	5428	HP:0002151	Increased serum lactate
OMIM:607459	POLG	5428	HP:0000007	Autosomal recessive inheritance
OMIM:607459	POLG	5428	HP:0001265	Hyporeflexia
OMIM:607459	POLG	5428	HP:0002076	Migraine
OMIM:607459	POLG	5428	HP:0000407	Sensorineural hearing impairment
OMIM:607459	POLG	5428	HP:0001336	Myoclonus
OMIM:607459	POLG	5428	HP:0001260	Dysarthria
OMIM:607459	POLG	5428	HP:0000518	Cataract
OMIM:607459	POLG	5428	HP:0001284	Areflexia
OMIM:607459	POLG	5428	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:607459	POLG	5428	HP:0003581	Adult onset
OMIM:607459	POLG	5428	HP:0001250	Seizures
OMIM:607459	C10ORF2	56652	HP:0000716	Depression
OMIM:607459	C10ORF2	56652	HP:0003812	Phenotypic variability
OMIM:607459	C10ORF2	56652	HP:0001751	Vestibular dysfunction
OMIM:607459	C10ORF2	56652	HP:0003701	Proximal muscle weakness
OMIM:607459	C10ORF2	56652	HP:0100543	Cognitive impairment
OMIM:607459	C10ORF2	56652	HP:0000508	Ptosis
OMIM:607459	C10ORF2	56652	HP:0000639	Nystagmus
OMIM:607459	C10ORF2	56652	HP:0001644	Dilated cardiomyopathy
OMIM:607459	C10ORF2	56652	HP:0002151	Increased serum lactate
OMIM:607459	C10ORF2	56652	HP:0000007	Autosomal recessive inheritance
OMIM:607459	C10ORF2	56652	HP:0001265	Hyporeflexia
OMIM:607459	C10ORF2	56652	HP:0002076	Migraine
OMIM:607459	C10ORF2	56652	HP:0000407	Sensorineural hearing impairment
OMIM:607459	C10ORF2	56652	HP:0001336	Myoclonus
OMIM:607459	C10ORF2	56652	HP:0001260	Dysarthria
OMIM:607459	C10ORF2	56652	HP:0000518	Cataract
OMIM:607459	C10ORF2	56652	HP:0001284	Areflexia
OMIM:607459	C10ORF2	56652	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:607459	C10ORF2	56652	HP:0003581	Adult onset
OMIM:607459	C10ORF2	56652	HP:0001250	Seizures
OMIM:615155	COL27A1	85301	HP:0003083	Dislocated radial head
OMIM:615155	COL27A1	85301	HP:0000007	Autosomal recessive inheritance
OMIM:615155	COL27A1	85301	HP:0000316	Hypertelorism
OMIM:615155	COL27A1	85301	HP:0004322	Short stature
OMIM:615155	COL27A1	85301	HP:0000431	Wide nasal bridge
OMIM:615155	COL27A1	85301	HP:0011220	Prominent forehead
OMIM:615155	COL27A1	85301	HP:0002650	Scoliosis
OMIM:302905	TBX22	50945	HP:0000175	Cleft palate
OMIM:302905	TBX22	50945	HP:0000612	Iris coloboma
OMIM:302905	TBX22	50945	HP:0000272	Malar flattening
OMIM:302905	TBX22	50945	HP:0006482	Abnormality of dental morphology
OMIM:302905	TBX22	50945	HP:0000407	Sensorineural hearing impairment
OMIM:302905	TBX22	50945	HP:0000400	Macrotia
OMIM:302905	TBX22	50945	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:302905	TBX22	50945	HP:0009465	Ulnar deviation of finger
OMIM:302905	TBX22	50945	HP:0001156	Brachydactyly syndrome
OMIM:302905	TBX22	50945	HP:0000411	Protruding ear
OMIM:302905	TBX22	50945	HP:0100627	Displacement of the external urethral meatus
OMIM:302905	TBX22	50945	HP:0001417	X-linked inheritance
OMIM:302905	TBX22	50945	HP:0002974	Radioulnar synostosis
OMIM:302905	TBX22	50945	HP:0001831	Short toe
OMIM:302905	TBX22	50945	HP:0000047	Hypospadias
OMIM:302905	TBX22	50945	HP:0000286	Epicanthus
OMIM:302905	TBX22	50945	HP:0001631	Atria septal defect
OMIM:302905	TBX22	50945	HP:0004322	Short stature
OMIM:302905	TBX22	50945	HP:0000567	Chorioretinal coloboma
OMIM:302905	TBX22	50945	HP:0000405	Conductive hearing impairment
OMIM:302905	TBX22	50945	HP:0000028	Cryptorchidism
OMIM:302905	TBX22	50945	HP:0000482	Microcornea
OMIM:302905	TBX22	50945	HP:0000589	Coloboma
OMIM:302905	TBX22	50945	HP:0000365	Hearing impairment
OMIM:302905	TBX22	50945	HP:0100542	Abnormal localization of kidney
OMIM:302905	TBX22	50945	HP:0001770	Toe syndactyly
OMIM:608099	SGCA	6442	HP:0003621	Juvenile onset
OMIM:608099	SGCA	6442	HP:0003828	Variable expressivity
OMIM:608099	SGCA	6442	HP:0003325	Limb-girdle muscle weakness
OMIM:608099	SGCA	6442	HP:0006785	Limb-girdle muscular dystrophy
OMIM:608099	SGCA	6442	HP:0008981	Calf muscle hypertrophy
OMIM:608099	SGCA	6442	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608099	SGCA	6442	HP:0003797	Limb-girdle muscle atrophy
OMIM:608099	SGCA	6442	HP:0002650	Scoliosis
OMIM:608099	SGCA	6442	HP:0003458	EMG: myopathic abnormalities
OMIM:608099	SGCA	6442	HP:0001371	Flexion contracture
OMIM:608099	SGCA	6442	HP:0002317	Unsteady gait
OMIM:608099	SGCA	6442	HP:0000007	Autosomal recessive inheritance
OMIM:608099	SGCA	6442	HP:0003676	Progressive
OMIM:608099	SGCA	6442	HP:0001638	Cardiomyopathy
OMIM:612572	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:612572	RLBP1	6017	HP:0000505	Visual impairment
OMIM:612572	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:612572	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:612572	RLBP1	6017	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:612572	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:612572	SPATA7	55812	HP:0000505	Visual impairment
OMIM:612572	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:612572	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:612572	SPATA7	55812	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:612572	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:612572	ARL6	84100	HP:0000505	Visual impairment
OMIM:612572	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:612572	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:612572	ARL6	84100	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:612572	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:612572	CERKL	375298	HP:0000505	Visual impairment
OMIM:612572	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:612572	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:612572	CERKL	375298	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:612572	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:612572	PRPF31	26121	HP:0000505	Visual impairment
OMIM:612572	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:612572	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:612572	PRPF31	26121	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:612572	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:612572	TTC8	123016	HP:0000505	Visual impairment
OMIM:612572	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:612572	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:612572	TTC8	123016	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:612572	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:612572	PROM1	8842	HP:0000505	Visual impairment
OMIM:612572	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:612572	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:612572	PROM1	8842	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:612572	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:612572	LRAT	9227	HP:0000505	Visual impairment
OMIM:612572	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:612572	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:612572	LRAT	9227	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:612572	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:612572	IFT140	9742	HP:0000505	Visual impairment
OMIM:612572	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:612572	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:612572	IFT140	9742	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:612572	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:612572	BEST1	7439	HP:0000505	Visual impairment
OMIM:612572	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:612572	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:612572	BEST1	7439	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:612572	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:612572	NEK2	4751	HP:0000505	Visual impairment
OMIM:612572	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:612572	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:612572	NEK2	4751	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:612572	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:612572	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:612572	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:612572	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:612572	ARL2BP	23568	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:612572	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:612572	NR2E3	10002	HP:0000505	Visual impairment
OMIM:612572	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:612572	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:612572	NR2E3	10002	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:612572	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:612572	EYS	346007	HP:0000505	Visual impairment
OMIM:612572	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:612572	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:612572	EYS	346007	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	EYS	346007	HP:0000543	Optic disc pallor
OMIM:612572	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:612572	MAK	4117	HP:0000505	Visual impairment
OMIM:612572	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:612572	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:612572	MAK	4117	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	MAK	4117	HP:0000543	Optic disc pallor
OMIM:612572	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:612572	SAG	6295	HP:0000505	Visual impairment
OMIM:612572	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:612572	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:612572	SAG	6295	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	SAG	6295	HP:0000543	Optic disc pallor
OMIM:612572	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:612572	ABCA4	24	HP:0000505	Visual impairment
OMIM:612572	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:612572	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:612572	ABCA4	24	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:612572	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:612572	PDE6A	5145	HP:0000505	Visual impairment
OMIM:612572	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:612572	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:612572	PDE6A	5145	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:612572	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:612572	PDE6G	5148	HP:0000505	Visual impairment
OMIM:612572	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:612572	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:612572	PDE6G	5148	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:612572	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:612572	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:612572	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:612572	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:612572	IMPDH1	3614	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:612572	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:612572	OFD1	8481	HP:0000505	Visual impairment
OMIM:612572	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:612572	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:612572	OFD1	8481	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:612572	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:612572	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:612572	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:612572	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:612572	GUCA1B	2979	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:612572	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:612572	NRL	4901	HP:0000505	Visual impairment
OMIM:612572	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:612572	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:612572	NRL	4901	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	NRL	4901	HP:0000543	Optic disc pallor
OMIM:612572	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:612572	PDE6B	5158	HP:0000505	Visual impairment
OMIM:612572	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:612572	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:612572	PDE6B	5158	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:612572	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:612572	KLHL7	55975	HP:0000505	Visual impairment
OMIM:612572	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:612572	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:612572	KLHL7	55975	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:612572	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:612572	PRPF4	9128	HP:0000505	Visual impairment
OMIM:612572	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:612572	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:612572	PRPF4	9128	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:612572	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:612572	PRPF3	9129	HP:0000505	Visual impairment
OMIM:612572	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:612572	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:612572	PRPF3	9129	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:612572	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:612572	FAM161A	84140	HP:0000505	Visual impairment
OMIM:612572	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:612572	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:612572	FAM161A	84140	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:612572	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:612572	IFT172	26160	HP:0000505	Visual impairment
OMIM:612572	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:612572	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:612572	IFT172	26160	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:612572	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:612572	KIZ	55857	HP:0000505	Visual impairment
OMIM:612572	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:612572	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:612572	KIZ	55857	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:612572	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:612572	CDHR1	92211	HP:0000505	Visual impairment
OMIM:612572	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:612572	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:612572	CDHR1	92211	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:612572	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:612572	ZNF408	79797	HP:0000505	Visual impairment
OMIM:612572	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:612572	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:612572	ZNF408	79797	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:612572	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:612572	RBP3	5949	HP:0000505	Visual impairment
OMIM:612572	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:612572	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:612572	RBP3	5949	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:612572	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:612572	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:612572	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:612572	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:612572	HGSNAT	138050	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:612572	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:612572	FSCN2	25794	HP:0000505	Visual impairment
OMIM:612572	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:612572	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:612572	FSCN2	25794	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:612572	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:612572	PRCD	768206	HP:0000505	Visual impairment
OMIM:612572	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:612572	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:612572	PRCD	768206	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:612572	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:612572	BBS2	583	HP:0000505	Visual impairment
OMIM:612572	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:612572	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:612572	BBS2	583	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	BBS2	583	HP:0000543	Optic disc pallor
OMIM:612572	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:612572	RDH12	145226	HP:0000505	Visual impairment
OMIM:612572	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:612572	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:612572	RDH12	145226	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:612572	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:612572	PRPH2	5961	HP:0000505	Visual impairment
OMIM:612572	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:612572	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:612572	PRPH2	5961	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:612572	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:612572	DHDDS	79947	HP:0000505	Visual impairment
OMIM:612572	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:612572	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:612572	DHDDS	79947	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:612572	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:612572	ROM1	6094	HP:0000505	Visual impairment
OMIM:612572	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:612572	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:612572	ROM1	6094	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:612572	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:612572	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:612572	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:612572	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:612572	C2ORF71	388939	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:612572	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:612572	RP9	6100	HP:0000505	Visual impairment
OMIM:612572	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:612572	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:612572	RP9	6100	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	RP9	6100	HP:0000543	Optic disc pallor
OMIM:612572	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:612572	PRPF6	24148	HP:0000505	Visual impairment
OMIM:612572	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:612572	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:612572	PRPF6	24148	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:612572	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:612572	RP1	6101	HP:0000505	Visual impairment
OMIM:612572	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:612572	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:612572	RP1	6101	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	RP1	6101	HP:0000543	Optic disc pallor
OMIM:612572	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:612572	RP2	6102	HP:0000505	Visual impairment
OMIM:612572	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:612572	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:612572	RP2	6102	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	RP2	6102	HP:0000543	Optic disc pallor
OMIM:612572	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:612572	RPGR	6103	HP:0000505	Visual impairment
OMIM:612572	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:612572	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:612572	RPGR	6103	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:612572	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:612572	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:612572	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:612572	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:612572	SEMA4A	64218	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:612572	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:612572	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:612572	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:612572	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:612572	C8ORF37	157657	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:612572	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:612572	IDH3B	3420	HP:0000505	Visual impairment
OMIM:612572	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:612572	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:612572	IDH3B	3420	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:612572	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:612572	MERTK	10461	HP:0000505	Visual impairment
OMIM:612572	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:612572	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:612572	MERTK	10461	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:612572	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:612572	PRPF8	10594	HP:0000505	Visual impairment
OMIM:612572	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:612572	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:612572	PRPF8	10594	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:612572	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:612572	TOPORS	10210	HP:0000505	Visual impairment
OMIM:612572	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:612572	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:612572	TOPORS	10210	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:612572	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:612572	USH2A	7399	HP:0000505	Visual impairment
OMIM:612572	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:612572	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:612572	USH2A	7399	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:612572	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:612572	RPE65	6121	HP:0000505	Visual impairment
OMIM:612572	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:612572	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:612572	RPE65	6121	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:612572	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:612572	CLRN1	7401	HP:0000505	Visual impairment
OMIM:612572	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:612572	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:612572	CLRN1	7401	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:612572	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:612572	CNGB1	1258	HP:0000505	Visual impairment
OMIM:612572	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:612572	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:612572	CNGB1	1258	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:612572	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:612572	RGR	5995	HP:0000505	Visual impairment
OMIM:612572	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:612572	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:612572	RGR	5995	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	RGR	5995	HP:0000543	Optic disc pallor
OMIM:612572	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:612572	CNGA1	1259	HP:0000505	Visual impairment
OMIM:612572	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:612572	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:612572	CNGA1	1259	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:612572	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:612572	TUB	7275	HP:0000505	Visual impairment
OMIM:612572	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:612572	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:612572	TUB	7275	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	TUB	7275	HP:0000543	Optic disc pallor
OMIM:612572	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:612572	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:612572	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:612572	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:612572	SNRNP200	23020	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:612572	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:612572	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:612572	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:612572	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:612572	SLC7A14	57709	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:612572	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:612572	TULP1	7287	HP:0000505	Visual impairment
OMIM:612572	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:612572	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:612572	TULP1	7287	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:612572	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:612572	RHO	6010	HP:0000505	Visual impairment
OMIM:612572	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:612572	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:612572	RHO	6010	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	RHO	6010	HP:0000543	Optic disc pallor
OMIM:612572	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:612572	CA4	762	HP:0000505	Visual impairment
OMIM:612572	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:612572	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:612572	CA4	762	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	CA4	762	HP:0000543	Optic disc pallor
OMIM:612572	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:612572	CRB1	23418	HP:0000505	Visual impairment
OMIM:612572	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:612572	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:612572	CRB1	23418	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:612572	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:612572	IMPG2	50939	HP:0000505	Visual impairment
OMIM:612572	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:612572	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:612572	IMPG2	50939	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:612572	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:612572	ZNF513	130557	HP:0000505	Visual impairment
OMIM:612572	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:612572	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:612572	ZNF513	130557	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:612572	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:612572	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:612572	CRX	1406	HP:0000505	Visual impairment
OMIM:612572	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:612572	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:612572	CRX	1406	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:612572	CRX	1406	HP:0000543	Optic disc pallor
OMIM:302650	CDR1	1038	HP:0001417	X-linked inheritance
OMIM:302650	CDR1	1038	HP:0000707	Abnormality of the nervous system
OMIM:302650	CDR1	1038	HP:0002715	Abnormality of the immune system
OMIM:615816	PGM3	5238	HP:0000218	High palate
OMIM:615816	PGM3	5238	HP:0002721	Immunodeficiency
OMIM:615816	PGM3	5238	HP:0002205	Recurrent respiratory infections
OMIM:615816	PGM3	5238	HP:0000407	Sensorineural hearing impairment
OMIM:615816	PGM3	5238	HP:0001251	Ataxia
OMIM:615816	PGM3	5238	HP:0000964	Eczema
OMIM:615816	PGM3	5238	HP:0000405	Conductive hearing impairment
OMIM:615816	PGM3	5238	HP:0001260	Dysarthria
OMIM:615816	PGM3	5238	HP:0001875	Neutropenia
OMIM:615816	PGM3	5238	HP:0002650	Scoliosis
OMIM:615816	PGM3	5238	HP:0003474	Sensory impairment
OMIM:615816	PGM3	5238	HP:0001249	Intellectual disability
OMIM:615816	PGM3	5238	HP:0001878	Hemolytic anemia
OMIM:615816	PGM3	5238	HP:0002110	Bronchiectasis
OMIM:615816	PGM3	5238	HP:0002099	Asthma
OMIM:615816	PGM3	5238	HP:0100543	Cognitive impairment
OMIM:615816	PGM3	5238	HP:0001263	Global developmental delay
OMIM:615816	PGM3	5238	HP:0001252	Muscular hypotonia
OMIM:615960	LAMA1	284217	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615960	LAMA1	284217	HP:0002198	Dilated fourth ventricle
OMIM:615960	LAMA1	284217	HP:0001270	Motor delay
OMIM:615960	LAMA1	284217	HP:0000639	Nystagmus
OMIM:615960	LAMA1	284217	HP:0000646	Amblyopia
OMIM:615960	LAMA1	284217	HP:0000486	Strabismus
OMIM:615960	LAMA1	284217	HP:0000556	Retinal dystrophy
OMIM:615960	LAMA1	284217	HP:0002350	Cerebellar cyst
OMIM:615960	LAMA1	284217	HP:0000657	Oculomotor apraxia
OMIM:615960	LAMA1	284217	HP:0000545	Myopia
OMIM:615960	LAMA1	284217	HP:0000007	Autosomal recessive inheritance
OMIM:615960	LAMA1	284217	HP:0000750	Delayed speech and language development
OMIM:615960	LAMA1	284217	HP:0001252	Muscular hypotonia
OMIM:615960	LAMA1	284217	HP:0001105	Retinal atrophy
OMIM:615960	LAMA1	284217	HP:0002518	Abnormality of the periventricular white matter
OMIM:615960	LAMA1	284217	HP:0007033	Cerebellar dysplasia
OMIM:607872	SKI	6497	HP:0000028	Cryptorchidism
OMIM:607872	SKI	6497	HP:0004374	Hemiplegia/hemiparesis
OMIM:607872	SKI	6497	HP:0002021	Pyloric stenosis
OMIM:607872	SKI	6497	HP:0000581	Blepharophimosis
OMIM:607872	SKI	6497	HP:0012817	Noncompaction cardiomyopathy
OMIM:607872	SKI	6497	HP:0000486	Strabismus
OMIM:607872	SKI	6497	HP:0002650	Scoliosis
OMIM:607872	SKI	6497	HP:0001302	Pachygyria
OMIM:607872	SKI	6497	HP:0000047	Hypospadias
OMIM:607872	SKI	6497	HP:0000505	Visual impairment
OMIM:607872	SKI	6497	HP:0100490	Camptodactyly of finger
OMIM:607872	SKI	6497	HP:0000286	Epicanthus
OMIM:607872	SKI	6497	HP:0000543	Optic disc pallor
OMIM:607872	SKI	6497	HP:0001840	Metatarsus adductus
OMIM:607872	SKI	6497	HP:0000648	Optic atrophy
OMIM:607872	SKI	6497	HP:0001644	Dilated cardiomyopathy
OMIM:607872	SKI	6497	HP:0001643	Patent ductus arteriosus
OMIM:607872	SKI	6497	HP:0002120	Cerebral cortical atrophy
OMIM:607872	SKI	6497	HP:0001743	Abnormality of the spleen
OMIM:607872	SKI	6497	HP:0002079	Hypoplasia of the corpus callosum
OMIM:607872	SKI	6497	HP:0000750	Delayed speech and language development
OMIM:607872	SKI	6497	HP:0001252	Muscular hypotonia
OMIM:607872	SKI	6497	HP:0000358	Posteriorly rotated ears
OMIM:607872	SKI	6497	HP:0010978	Abnormality of immune system physiology
OMIM:607872	SKI	6497	HP:0100716	Self-injurious behavior
OMIM:607872	SKI	6497	HP:0000369	Low-set ears
OMIM:607872	SKI	6497	HP:0000742	Self-mutilation
OMIM:607872	SKI	6497	HP:0000368	Low-set, posteriorly rotated ears
OMIM:607872	SKI	6497	HP:0002808	Kyphosis
OMIM:607872	SKI	6497	HP:0000405	Conductive hearing impairment
OMIM:607872	SKI	6497	HP:0001249	Intellectual disability
OMIM:607872	SKI	6497	HP:0000490	Deeply set eye
OMIM:607872	SKI	6497	HP:0000582	Upslanted palpebral fissure
OMIM:607872	SKI	6497	HP:0000160	Narrow mouth
OMIM:607872	SKI	6497	HP:0001629	Ventricular septal defect
OMIM:607872	SKI	6497	HP:0100543	Cognitive impairment
OMIM:607872	SKI	6497	HP:0000540	Hypermetropia
OMIM:607872	SKI	6497	HP:0005280	Depressed nasal bridge
OMIM:607872	SKI	6497	HP:0004322	Short stature
OMIM:607872	SKI	6497	HP:0001513	Obesity
OMIM:607872	SKI	6497	HP:0008872	Feeding difficulties in infancy
OMIM:607872	SKI	6497	HP:0002353	EEG abnormality
OMIM:607872	SKI	6497	HP:0002750	Delayed skeletal maturation
OMIM:607872	SKI	6497	HP:0000717	Autism
OMIM:607872	SKI	6497	HP:0001250	Seizures
OMIM:607872	SKI	6497	HP:0001647	Bicuspid aortic valve
OMIM:607872	SKI	6497	HP:0000639	Nystagmus
OMIM:607872	SKI	6497	HP:0001263	Global developmental delay
OMIM:607872	SKI	6497	HP:0003006	Neuroblastoma
OMIM:607872	SKI	6497	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:607872	SKI	6497	HP:0000464	Abnormality of the neck
OMIM:607872	SKI	6497	HP:0002126	Polymicrogyria
OMIM:607872	SKI	6497	HP:0000534	Abnormality of the eyebrow
OMIM:607872	SKI	6497	HP:0011220	Prominent forehead
OMIM:607872	SKI	6497	HP:0000431	Wide nasal bridge
OMIM:607872	SKI	6497	HP:0000518	Cataract
OMIM:607872	SKI	6497	HP:0002119	Ventriculomegaly
OMIM:607872	SKI	6497	HP:0008736	Hypoplasia of penis
OMIM:607872	SKI	6497	HP:0000391	Thickened helices
OMIM:607872	SKI	6497	HP:0001034	Hypermelanotic macule
OMIM:607872	SKI	6497	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607872	SKI	6497	HP:0001510	Growth delay
OMIM:607872	SKI	6497	HP:0001156	Brachydactyly syndrome
OMIM:607872	SKI	6497	HP:0002007	Frontal bossing
OMIM:607872	SKI	6497	HP:0001831	Short toe
OMIM:607872	SKI	6497	HP:0002521	Hypsarrhythmia
OMIM:607872	SKI	6497	HP:0000277	Abnormality of the mandible
OMIM:607872	SKI	6497	HP:0000733	Stereotypic behavior
OMIM:607872	SKI	6497	HP:0000457	Depressed nasal ridge
OMIM:607872	SKI	6497	HP:0004209	Clinodactyly of the 5th finger
OMIM:607872	SKI	6497	HP:0100585	Telangiectasia of the skin
OMIM:607872	SKI	6497	HP:0000238	Hydrocephalus
OMIM:607872	SKI	6497	HP:0003198	Myopathy
OMIM:607872	SKI	6497	HP:0000307	Pointed chin
OMIM:607872	SKI	6497	HP:0002015	Dysphagia
OMIM:607872	SKI	6497	HP:0002352	Leukoencephalopathy
OMIM:607872	SKI	6497	HP:0000998	Hypertrichosis
OMIM:607872	SKI	6497	HP:0001397	Hepatic steatosis
OMIM:607872	SKI	6497	HP:0008551	Microtia
OMIM:607872	SKI	6497	HP:0003416	Spinal canal stenosis
OMIM:607872	SKI	6497	HP:0000588	Optic nerve coloboma
OMIM:607872	SKI	6497	HP:0001671	Abnormality of the cardiac septa
OMIM:607872	SKI	6497	HP:0000218	High palate
OMIM:607872	SKI	6497	HP:0002019	Constipation
OMIM:607872	SKI	6497	HP:0000772	Abnormality of the ribs
OMIM:607872	SKI	6497	HP:0000343	Long philtrum
OMIM:607872	SKI	6497	HP:0001679	Abnormality of the aorta
OMIM:607872	SKI	6497	HP:0000252	Microcephaly
OMIM:607872	SKI	6497	HP:0000718	Aggressive behavior
OMIM:607872	SKI	6497	HP:0002101	Abnormal lung lobation
OMIM:607872	SKI	6497	HP:0000193	Bifid uvula
OMIM:607872	SKI	6497	HP:0000248	Brachycephaly
OMIM:607872	SKI	6497	HP:0000407	Sensorineural hearing impairment
OMIM:607872	SKI	6497	HP:0000204	Cleft upper lip
OMIM:607872	SKI	6497	HP:0002167	Neurological speech impairment
OMIM:607872	SKI	6497	HP:0000077	Abnormality of the kidney
OMIM:607872	SKI	6497	HP:0004378	Abnormality of the anus
OMIM:607872	SKI	6497	HP:0000494	Downslanted palpebral fissures
OMIM:607872	SKI	6497	HP:0001288	Gait disturbance
OMIM:607872	SKI	6497	HP:0009237	Short 5th finger
OMIM:607872	SKI	6497	HP:0001655	Patent foramen ovale
OMIM:607872	SKI	6497	HP:0001761	Pes cavus
OMIM:607872	SKI	6497	HP:0000316	Hypertelorism
OMIM:607872	SKI	6497	HP:0002242	Abnormality of the intestine
OMIM:607872	SKI	6497	HP:0001274	Agenesis of corpus callosum
OMIM:607872	SKI	6497	HP:0009553	Abnormality of the hairline
OMIM:607872	SKI	6497	HP:0000878	11 pairs of ribs
OMIM:607872	SKI	6497	HP:0002188	Delayed CNS myelination
OMIM:607872	SKI	6497	HP:0100627	Displacement of the external urethral meatus
OMIM:607872	SKI	6497	HP:0000664	Synophrys
OMIM:607872	SKI	6497	HP:0001829	Foot polydactyly
OMIM:607872	SKI	6497	HP:0000107	Renal cyst
OMIM:607872	SKI	6497	HP:0000545	Myopia
OMIM:607872	SKI	6497	HP:0002020	Gastroesophageal reflux
OMIM:607872	SKI	6497	HP:0011800	Hypoplasia of midface
OMIM:607872	SKI	6497	HP:0000272	Malar flattening
OMIM:607872	SKI	6497	HP:0000055	Abnormality of female external genitalia
OMIM:607872	SKI	6497	HP:0003812	Phenotypic variability
OMIM:607872	SKI	6497	HP:0001385	Hip dysplasia
OMIM:607872	SKI	6497	HP:0000821	Hypothyroidism
OMIM:607872	SKI	6497	HP:0001654	Abnormality of the heart valves
OMIM:607872	SKI	6497	HP:0001636	Tetralogy of Fallot
OMIM:607872	SKI	6497	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:607872	SKI	6497	HP:0001773	Short foot
OMIM:607872	SKI	6497	HP:0001107	Ocular albinism
OMIM:607872	SKI	6497	HP:0000176	Submucous cleft hard palate
OMIM:607872	KCNAB2	8514	HP:0000028	Cryptorchidism
OMIM:607872	KCNAB2	8514	HP:0004374	Hemiplegia/hemiparesis
OMIM:607872	KCNAB2	8514	HP:0002021	Pyloric stenosis
OMIM:607872	KCNAB2	8514	HP:0000581	Blepharophimosis
OMIM:607872	KCNAB2	8514	HP:0012817	Noncompaction cardiomyopathy
OMIM:607872	KCNAB2	8514	HP:0000486	Strabismus
OMIM:607872	KCNAB2	8514	HP:0002650	Scoliosis
OMIM:607872	KCNAB2	8514	HP:0001302	Pachygyria
OMIM:607872	KCNAB2	8514	HP:0000047	Hypospadias
OMIM:607872	KCNAB2	8514	HP:0000505	Visual impairment
OMIM:607872	KCNAB2	8514	HP:0100490	Camptodactyly of finger
OMIM:607872	KCNAB2	8514	HP:0000286	Epicanthus
OMIM:607872	KCNAB2	8514	HP:0000543	Optic disc pallor
OMIM:607872	KCNAB2	8514	HP:0001840	Metatarsus adductus
OMIM:607872	KCNAB2	8514	HP:0000648	Optic atrophy
OMIM:607872	KCNAB2	8514	HP:0001644	Dilated cardiomyopathy
OMIM:607872	KCNAB2	8514	HP:0001643	Patent ductus arteriosus
OMIM:607872	KCNAB2	8514	HP:0002120	Cerebral cortical atrophy
OMIM:607872	KCNAB2	8514	HP:0001743	Abnormality of the spleen
OMIM:607872	KCNAB2	8514	HP:0002079	Hypoplasia of the corpus callosum
OMIM:607872	KCNAB2	8514	HP:0000750	Delayed speech and language development
OMIM:607872	KCNAB2	8514	HP:0001252	Muscular hypotonia
OMIM:607872	KCNAB2	8514	HP:0000358	Posteriorly rotated ears
OMIM:607872	KCNAB2	8514	HP:0010978	Abnormality of immune system physiology
OMIM:607872	KCNAB2	8514	HP:0100716	Self-injurious behavior
OMIM:607872	KCNAB2	8514	HP:0000369	Low-set ears
OMIM:607872	KCNAB2	8514	HP:0000742	Self-mutilation
OMIM:607872	KCNAB2	8514	HP:0000368	Low-set, posteriorly rotated ears
OMIM:607872	KCNAB2	8514	HP:0002808	Kyphosis
OMIM:607872	KCNAB2	8514	HP:0000405	Conductive hearing impairment
OMIM:607872	KCNAB2	8514	HP:0001249	Intellectual disability
OMIM:607872	KCNAB2	8514	HP:0000490	Deeply set eye
OMIM:607872	KCNAB2	8514	HP:0000582	Upslanted palpebral fissure
OMIM:607872	KCNAB2	8514	HP:0000160	Narrow mouth
OMIM:607872	KCNAB2	8514	HP:0001629	Ventricular septal defect
OMIM:607872	KCNAB2	8514	HP:0100543	Cognitive impairment
OMIM:607872	KCNAB2	8514	HP:0000540	Hypermetropia
OMIM:607872	KCNAB2	8514	HP:0005280	Depressed nasal bridge
OMIM:607872	KCNAB2	8514	HP:0004322	Short stature
OMIM:607872	KCNAB2	8514	HP:0001513	Obesity
OMIM:607872	KCNAB2	8514	HP:0008872	Feeding difficulties in infancy
OMIM:607872	KCNAB2	8514	HP:0002353	EEG abnormality
OMIM:607872	KCNAB2	8514	HP:0002750	Delayed skeletal maturation
OMIM:607872	KCNAB2	8514	HP:0000717	Autism
OMIM:607872	KCNAB2	8514	HP:0001250	Seizures
OMIM:607872	KCNAB2	8514	HP:0001647	Bicuspid aortic valve
OMIM:607872	KCNAB2	8514	HP:0000639	Nystagmus
OMIM:607872	KCNAB2	8514	HP:0001263	Global developmental delay
OMIM:607872	KCNAB2	8514	HP:0003006	Neuroblastoma
OMIM:607872	KCNAB2	8514	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:607872	KCNAB2	8514	HP:0000464	Abnormality of the neck
OMIM:607872	KCNAB2	8514	HP:0002126	Polymicrogyria
OMIM:607872	KCNAB2	8514	HP:0000534	Abnormality of the eyebrow
OMIM:607872	KCNAB2	8514	HP:0011220	Prominent forehead
OMIM:607872	KCNAB2	8514	HP:0000431	Wide nasal bridge
OMIM:607872	KCNAB2	8514	HP:0000518	Cataract
OMIM:607872	KCNAB2	8514	HP:0002119	Ventriculomegaly
OMIM:607872	KCNAB2	8514	HP:0008736	Hypoplasia of penis
OMIM:607872	KCNAB2	8514	HP:0000391	Thickened helices
OMIM:607872	KCNAB2	8514	HP:0001034	Hypermelanotic macule
OMIM:607872	KCNAB2	8514	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607872	KCNAB2	8514	HP:0001510	Growth delay
OMIM:607872	KCNAB2	8514	HP:0001156	Brachydactyly syndrome
OMIM:607872	KCNAB2	8514	HP:0002007	Frontal bossing
OMIM:607872	KCNAB2	8514	HP:0001831	Short toe
OMIM:607872	KCNAB2	8514	HP:0002521	Hypsarrhythmia
OMIM:607872	KCNAB2	8514	HP:0000277	Abnormality of the mandible
OMIM:607872	KCNAB2	8514	HP:0000733	Stereotypic behavior
OMIM:607872	KCNAB2	8514	HP:0000457	Depressed nasal ridge
OMIM:607872	KCNAB2	8514	HP:0004209	Clinodactyly of the 5th finger
OMIM:607872	KCNAB2	8514	HP:0100585	Telangiectasia of the skin
OMIM:607872	KCNAB2	8514	HP:0000238	Hydrocephalus
OMIM:607872	KCNAB2	8514	HP:0003198	Myopathy
OMIM:607872	KCNAB2	8514	HP:0000307	Pointed chin
OMIM:607872	KCNAB2	8514	HP:0002015	Dysphagia
OMIM:607872	KCNAB2	8514	HP:0002352	Leukoencephalopathy
OMIM:607872	KCNAB2	8514	HP:0000998	Hypertrichosis
OMIM:607872	KCNAB2	8514	HP:0001397	Hepatic steatosis
OMIM:607872	KCNAB2	8514	HP:0008551	Microtia
OMIM:607872	KCNAB2	8514	HP:0003416	Spinal canal stenosis
OMIM:607872	KCNAB2	8514	HP:0000588	Optic nerve coloboma
OMIM:607872	KCNAB2	8514	HP:0001671	Abnormality of the cardiac septa
OMIM:607872	KCNAB2	8514	HP:0000218	High palate
OMIM:607872	KCNAB2	8514	HP:0002019	Constipation
OMIM:607872	KCNAB2	8514	HP:0000772	Abnormality of the ribs
OMIM:607872	KCNAB2	8514	HP:0000343	Long philtrum
OMIM:607872	KCNAB2	8514	HP:0001679	Abnormality of the aorta
OMIM:607872	KCNAB2	8514	HP:0000252	Microcephaly
OMIM:607872	KCNAB2	8514	HP:0000718	Aggressive behavior
OMIM:607872	KCNAB2	8514	HP:0002101	Abnormal lung lobation
OMIM:607872	KCNAB2	8514	HP:0000193	Bifid uvula
OMIM:607872	KCNAB2	8514	HP:0000248	Brachycephaly
OMIM:607872	KCNAB2	8514	HP:0000407	Sensorineural hearing impairment
OMIM:607872	KCNAB2	8514	HP:0000204	Cleft upper lip
OMIM:607872	KCNAB2	8514	HP:0002167	Neurological speech impairment
OMIM:607872	KCNAB2	8514	HP:0000077	Abnormality of the kidney
OMIM:607872	KCNAB2	8514	HP:0004378	Abnormality of the anus
OMIM:607872	KCNAB2	8514	HP:0000494	Downslanted palpebral fissures
OMIM:607872	KCNAB2	8514	HP:0001288	Gait disturbance
OMIM:607872	KCNAB2	8514	HP:0009237	Short 5th finger
OMIM:607872	KCNAB2	8514	HP:0001655	Patent foramen ovale
OMIM:607872	KCNAB2	8514	HP:0001761	Pes cavus
OMIM:607872	KCNAB2	8514	HP:0000316	Hypertelorism
OMIM:607872	KCNAB2	8514	HP:0002242	Abnormality of the intestine
OMIM:607872	KCNAB2	8514	HP:0001274	Agenesis of corpus callosum
OMIM:607872	KCNAB2	8514	HP:0009553	Abnormality of the hairline
OMIM:607872	KCNAB2	8514	HP:0000878	11 pairs of ribs
OMIM:607872	KCNAB2	8514	HP:0002188	Delayed CNS myelination
OMIM:607872	KCNAB2	8514	HP:0100627	Displacement of the external urethral meatus
OMIM:607872	KCNAB2	8514	HP:0000664	Synophrys
OMIM:607872	KCNAB2	8514	HP:0001829	Foot polydactyly
OMIM:607872	KCNAB2	8514	HP:0000107	Renal cyst
OMIM:607872	KCNAB2	8514	HP:0000545	Myopia
OMIM:607872	KCNAB2	8514	HP:0002020	Gastroesophageal reflux
OMIM:607872	KCNAB2	8514	HP:0011800	Hypoplasia of midface
OMIM:607872	KCNAB2	8514	HP:0000272	Malar flattening
OMIM:607872	KCNAB2	8514	HP:0000055	Abnormality of female external genitalia
OMIM:607872	KCNAB2	8514	HP:0003812	Phenotypic variability
OMIM:607872	KCNAB2	8514	HP:0001385	Hip dysplasia
OMIM:607872	KCNAB2	8514	HP:0000821	Hypothyroidism
OMIM:607872	KCNAB2	8514	HP:0001654	Abnormality of the heart valves
OMIM:607872	KCNAB2	8514	HP:0001636	Tetralogy of Fallot
OMIM:607872	KCNAB2	8514	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:607872	KCNAB2	8514	HP:0001773	Short foot
OMIM:607872	KCNAB2	8514	HP:0001107	Ocular albinism
OMIM:607872	KCNAB2	8514	HP:0000176	Submucous cleft hard palate
OMIM:607872	GABRD	2563	HP:0000028	Cryptorchidism
OMIM:607872	GABRD	2563	HP:0004374	Hemiplegia/hemiparesis
OMIM:607872	GABRD	2563	HP:0002021	Pyloric stenosis
OMIM:607872	GABRD	2563	HP:0000581	Blepharophimosis
OMIM:607872	GABRD	2563	HP:0012817	Noncompaction cardiomyopathy
OMIM:607872	GABRD	2563	HP:0000486	Strabismus
OMIM:607872	GABRD	2563	HP:0002650	Scoliosis
OMIM:607872	GABRD	2563	HP:0001302	Pachygyria
OMIM:607872	GABRD	2563	HP:0000047	Hypospadias
OMIM:607872	GABRD	2563	HP:0000505	Visual impairment
OMIM:607872	GABRD	2563	HP:0100490	Camptodactyly of finger
OMIM:607872	GABRD	2563	HP:0000286	Epicanthus
OMIM:607872	GABRD	2563	HP:0000543	Optic disc pallor
OMIM:607872	GABRD	2563	HP:0001840	Metatarsus adductus
OMIM:607872	GABRD	2563	HP:0000648	Optic atrophy
OMIM:607872	GABRD	2563	HP:0001644	Dilated cardiomyopathy
OMIM:607872	GABRD	2563	HP:0001643	Patent ductus arteriosus
OMIM:607872	GABRD	2563	HP:0002120	Cerebral cortical atrophy
OMIM:607872	GABRD	2563	HP:0001743	Abnormality of the spleen
OMIM:607872	GABRD	2563	HP:0002079	Hypoplasia of the corpus callosum
OMIM:607872	GABRD	2563	HP:0000750	Delayed speech and language development
OMIM:607872	GABRD	2563	HP:0001252	Muscular hypotonia
OMIM:607872	GABRD	2563	HP:0000358	Posteriorly rotated ears
OMIM:607872	GABRD	2563	HP:0010978	Abnormality of immune system physiology
OMIM:607872	GABRD	2563	HP:0100716	Self-injurious behavior
OMIM:607872	GABRD	2563	HP:0000369	Low-set ears
OMIM:607872	GABRD	2563	HP:0000742	Self-mutilation
OMIM:607872	GABRD	2563	HP:0000368	Low-set, posteriorly rotated ears
OMIM:607872	GABRD	2563	HP:0002808	Kyphosis
OMIM:607872	GABRD	2563	HP:0000405	Conductive hearing impairment
OMIM:607872	GABRD	2563	HP:0001249	Intellectual disability
OMIM:607872	GABRD	2563	HP:0000490	Deeply set eye
OMIM:607872	GABRD	2563	HP:0000582	Upslanted palpebral fissure
OMIM:607872	GABRD	2563	HP:0000160	Narrow mouth
OMIM:607872	GABRD	2563	HP:0001629	Ventricular septal defect
OMIM:607872	GABRD	2563	HP:0100543	Cognitive impairment
OMIM:607872	GABRD	2563	HP:0000540	Hypermetropia
OMIM:607872	GABRD	2563	HP:0005280	Depressed nasal bridge
OMIM:607872	GABRD	2563	HP:0004322	Short stature
OMIM:607872	GABRD	2563	HP:0001513	Obesity
OMIM:607872	GABRD	2563	HP:0008872	Feeding difficulties in infancy
OMIM:607872	GABRD	2563	HP:0002353	EEG abnormality
OMIM:607872	GABRD	2563	HP:0002750	Delayed skeletal maturation
OMIM:607872	GABRD	2563	HP:0000717	Autism
OMIM:607872	GABRD	2563	HP:0001250	Seizures
OMIM:607872	GABRD	2563	HP:0001647	Bicuspid aortic valve
OMIM:607872	GABRD	2563	HP:0000639	Nystagmus
OMIM:607872	GABRD	2563	HP:0001263	Global developmental delay
OMIM:607872	GABRD	2563	HP:0003006	Neuroblastoma
OMIM:607872	GABRD	2563	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:607872	GABRD	2563	HP:0000464	Abnormality of the neck
OMIM:607872	GABRD	2563	HP:0002126	Polymicrogyria
OMIM:607872	GABRD	2563	HP:0000534	Abnormality of the eyebrow
OMIM:607872	GABRD	2563	HP:0011220	Prominent forehead
OMIM:607872	GABRD	2563	HP:0000431	Wide nasal bridge
OMIM:607872	GABRD	2563	HP:0000518	Cataract
OMIM:607872	GABRD	2563	HP:0002119	Ventriculomegaly
OMIM:607872	GABRD	2563	HP:0008736	Hypoplasia of penis
OMIM:607872	GABRD	2563	HP:0000391	Thickened helices
OMIM:607872	GABRD	2563	HP:0001034	Hypermelanotic macule
OMIM:607872	GABRD	2563	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607872	GABRD	2563	HP:0001510	Growth delay
OMIM:607872	GABRD	2563	HP:0001156	Brachydactyly syndrome
OMIM:607872	GABRD	2563	HP:0002007	Frontal bossing
OMIM:607872	GABRD	2563	HP:0001831	Short toe
OMIM:607872	GABRD	2563	HP:0002521	Hypsarrhythmia
OMIM:607872	GABRD	2563	HP:0000277	Abnormality of the mandible
OMIM:607872	GABRD	2563	HP:0000733	Stereotypic behavior
OMIM:607872	GABRD	2563	HP:0000457	Depressed nasal ridge
OMIM:607872	GABRD	2563	HP:0004209	Clinodactyly of the 5th finger
OMIM:607872	GABRD	2563	HP:0100585	Telangiectasia of the skin
OMIM:607872	GABRD	2563	HP:0000238	Hydrocephalus
OMIM:607872	GABRD	2563	HP:0003198	Myopathy
OMIM:607872	GABRD	2563	HP:0000307	Pointed chin
OMIM:607872	GABRD	2563	HP:0002015	Dysphagia
OMIM:607872	GABRD	2563	HP:0002352	Leukoencephalopathy
OMIM:607872	GABRD	2563	HP:0000998	Hypertrichosis
OMIM:607872	GABRD	2563	HP:0001397	Hepatic steatosis
OMIM:607872	GABRD	2563	HP:0008551	Microtia
OMIM:607872	GABRD	2563	HP:0003416	Spinal canal stenosis
OMIM:607872	GABRD	2563	HP:0000588	Optic nerve coloboma
OMIM:607872	GABRD	2563	HP:0001671	Abnormality of the cardiac septa
OMIM:607872	GABRD	2563	HP:0000218	High palate
OMIM:607872	GABRD	2563	HP:0002019	Constipation
OMIM:607872	GABRD	2563	HP:0000772	Abnormality of the ribs
OMIM:607872	GABRD	2563	HP:0000343	Long philtrum
OMIM:607872	GABRD	2563	HP:0001679	Abnormality of the aorta
OMIM:607872	GABRD	2563	HP:0000252	Microcephaly
OMIM:607872	GABRD	2563	HP:0000718	Aggressive behavior
OMIM:607872	GABRD	2563	HP:0002101	Abnormal lung lobation
OMIM:607872	GABRD	2563	HP:0000193	Bifid uvula
OMIM:607872	GABRD	2563	HP:0000248	Brachycephaly
OMIM:607872	GABRD	2563	HP:0000407	Sensorineural hearing impairment
OMIM:607872	GABRD	2563	HP:0000204	Cleft upper lip
OMIM:607872	GABRD	2563	HP:0002167	Neurological speech impairment
OMIM:607872	GABRD	2563	HP:0000077	Abnormality of the kidney
OMIM:607872	GABRD	2563	HP:0004378	Abnormality of the anus
OMIM:607872	GABRD	2563	HP:0000494	Downslanted palpebral fissures
OMIM:607872	GABRD	2563	HP:0001288	Gait disturbance
OMIM:607872	GABRD	2563	HP:0009237	Short 5th finger
OMIM:607872	GABRD	2563	HP:0001655	Patent foramen ovale
OMIM:607872	GABRD	2563	HP:0001761	Pes cavus
OMIM:607872	GABRD	2563	HP:0000316	Hypertelorism
OMIM:607872	GABRD	2563	HP:0002242	Abnormality of the intestine
OMIM:607872	GABRD	2563	HP:0001274	Agenesis of corpus callosum
OMIM:607872	GABRD	2563	HP:0009553	Abnormality of the hairline
OMIM:607872	GABRD	2563	HP:0000878	11 pairs of ribs
OMIM:607872	GABRD	2563	HP:0002188	Delayed CNS myelination
OMIM:607872	GABRD	2563	HP:0100627	Displacement of the external urethral meatus
OMIM:607872	GABRD	2563	HP:0000664	Synophrys
OMIM:607872	GABRD	2563	HP:0001829	Foot polydactyly
OMIM:607872	GABRD	2563	HP:0000107	Renal cyst
OMIM:607872	GABRD	2563	HP:0000545	Myopia
OMIM:607872	GABRD	2563	HP:0002020	Gastroesophageal reflux
OMIM:607872	GABRD	2563	HP:0011800	Hypoplasia of midface
OMIM:607872	GABRD	2563	HP:0000272	Malar flattening
OMIM:607872	GABRD	2563	HP:0000055	Abnormality of female external genitalia
OMIM:607872	GABRD	2563	HP:0003812	Phenotypic variability
OMIM:607872	GABRD	2563	HP:0001385	Hip dysplasia
OMIM:607872	GABRD	2563	HP:0000821	Hypothyroidism
OMIM:607872	GABRD	2563	HP:0001654	Abnormality of the heart valves
OMIM:607872	GABRD	2563	HP:0001636	Tetralogy of Fallot
OMIM:607872	GABRD	2563	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:607872	GABRD	2563	HP:0001773	Short foot
OMIM:607872	GABRD	2563	HP:0001107	Ocular albinism
OMIM:607872	GABRD	2563	HP:0000176	Submucous cleft hard palate
OMIM:607872	PRDM16	63976	HP:0000028	Cryptorchidism
OMIM:607872	PRDM16	63976	HP:0004374	Hemiplegia/hemiparesis
OMIM:607872	PRDM16	63976	HP:0002021	Pyloric stenosis
OMIM:607872	PRDM16	63976	HP:0000581	Blepharophimosis
OMIM:607872	PRDM16	63976	HP:0012817	Noncompaction cardiomyopathy
OMIM:607872	PRDM16	63976	HP:0000486	Strabismus
OMIM:607872	PRDM16	63976	HP:0002650	Scoliosis
OMIM:607872	PRDM16	63976	HP:0001302	Pachygyria
OMIM:607872	PRDM16	63976	HP:0000047	Hypospadias
OMIM:607872	PRDM16	63976	HP:0000505	Visual impairment
OMIM:607872	PRDM16	63976	HP:0100490	Camptodactyly of finger
OMIM:607872	PRDM16	63976	HP:0000286	Epicanthus
OMIM:607872	PRDM16	63976	HP:0000543	Optic disc pallor
OMIM:607872	PRDM16	63976	HP:0001840	Metatarsus adductus
OMIM:607872	PRDM16	63976	HP:0000648	Optic atrophy
OMIM:607872	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:607872	PRDM16	63976	HP:0001643	Patent ductus arteriosus
OMIM:607872	PRDM16	63976	HP:0002120	Cerebral cortical atrophy
OMIM:607872	PRDM16	63976	HP:0001743	Abnormality of the spleen
OMIM:607872	PRDM16	63976	HP:0002079	Hypoplasia of the corpus callosum
OMIM:607872	PRDM16	63976	HP:0000750	Delayed speech and language development
OMIM:607872	PRDM16	63976	HP:0001252	Muscular hypotonia
OMIM:607872	PRDM16	63976	HP:0000358	Posteriorly rotated ears
OMIM:607872	PRDM16	63976	HP:0010978	Abnormality of immune system physiology
OMIM:607872	PRDM16	63976	HP:0100716	Self-injurious behavior
OMIM:607872	PRDM16	63976	HP:0000369	Low-set ears
OMIM:607872	PRDM16	63976	HP:0000742	Self-mutilation
OMIM:607872	PRDM16	63976	HP:0000368	Low-set, posteriorly rotated ears
OMIM:607872	PRDM16	63976	HP:0002808	Kyphosis
OMIM:607872	PRDM16	63976	HP:0000405	Conductive hearing impairment
OMIM:607872	PRDM16	63976	HP:0001249	Intellectual disability
OMIM:607872	PRDM16	63976	HP:0000490	Deeply set eye
OMIM:607872	PRDM16	63976	HP:0000582	Upslanted palpebral fissure
OMIM:607872	PRDM16	63976	HP:0000160	Narrow mouth
OMIM:607872	PRDM16	63976	HP:0001629	Ventricular septal defect
OMIM:607872	PRDM16	63976	HP:0100543	Cognitive impairment
OMIM:607872	PRDM16	63976	HP:0000540	Hypermetropia
OMIM:607872	PRDM16	63976	HP:0005280	Depressed nasal bridge
OMIM:607872	PRDM16	63976	HP:0004322	Short stature
OMIM:607872	PRDM16	63976	HP:0001513	Obesity
OMIM:607872	PRDM16	63976	HP:0008872	Feeding difficulties in infancy
OMIM:607872	PRDM16	63976	HP:0002353	EEG abnormality
OMIM:607872	PRDM16	63976	HP:0002750	Delayed skeletal maturation
OMIM:607872	PRDM16	63976	HP:0000717	Autism
OMIM:607872	PRDM16	63976	HP:0001250	Seizures
OMIM:607872	PRDM16	63976	HP:0001647	Bicuspid aortic valve
OMIM:607872	PRDM16	63976	HP:0000639	Nystagmus
OMIM:607872	PRDM16	63976	HP:0001263	Global developmental delay
OMIM:607872	PRDM16	63976	HP:0003006	Neuroblastoma
OMIM:607872	PRDM16	63976	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:607872	PRDM16	63976	HP:0000464	Abnormality of the neck
OMIM:607872	PRDM16	63976	HP:0002126	Polymicrogyria
OMIM:607872	PRDM16	63976	HP:0000534	Abnormality of the eyebrow
OMIM:607872	PRDM16	63976	HP:0011220	Prominent forehead
OMIM:607872	PRDM16	63976	HP:0000431	Wide nasal bridge
OMIM:607872	PRDM16	63976	HP:0000518	Cataract
OMIM:607872	PRDM16	63976	HP:0002119	Ventriculomegaly
OMIM:607872	PRDM16	63976	HP:0008736	Hypoplasia of penis
OMIM:607872	PRDM16	63976	HP:0000391	Thickened helices
OMIM:607872	PRDM16	63976	HP:0001034	Hypermelanotic macule
OMIM:607872	PRDM16	63976	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607872	PRDM16	63976	HP:0001510	Growth delay
OMIM:607872	PRDM16	63976	HP:0001156	Brachydactyly syndrome
OMIM:607872	PRDM16	63976	HP:0002007	Frontal bossing
OMIM:607872	PRDM16	63976	HP:0001831	Short toe
OMIM:607872	PRDM16	63976	HP:0002521	Hypsarrhythmia
OMIM:607872	PRDM16	63976	HP:0000277	Abnormality of the mandible
OMIM:607872	PRDM16	63976	HP:0000733	Stereotypic behavior
OMIM:607872	PRDM16	63976	HP:0000457	Depressed nasal ridge
OMIM:607872	PRDM16	63976	HP:0004209	Clinodactyly of the 5th finger
OMIM:607872	PRDM16	63976	HP:0100585	Telangiectasia of the skin
OMIM:607872	PRDM16	63976	HP:0000238	Hydrocephalus
OMIM:607872	PRDM16	63976	HP:0003198	Myopathy
OMIM:607872	PRDM16	63976	HP:0000307	Pointed chin
OMIM:607872	PRDM16	63976	HP:0002015	Dysphagia
OMIM:607872	PRDM16	63976	HP:0002352	Leukoencephalopathy
OMIM:607872	PRDM16	63976	HP:0000998	Hypertrichosis
OMIM:607872	PRDM16	63976	HP:0001397	Hepatic steatosis
OMIM:607872	PRDM16	63976	HP:0008551	Microtia
OMIM:607872	PRDM16	63976	HP:0003416	Spinal canal stenosis
OMIM:607872	PRDM16	63976	HP:0000588	Optic nerve coloboma
OMIM:607872	PRDM16	63976	HP:0001671	Abnormality of the cardiac septa
OMIM:607872	PRDM16	63976	HP:0000218	High palate
OMIM:607872	PRDM16	63976	HP:0002019	Constipation
OMIM:607872	PRDM16	63976	HP:0000772	Abnormality of the ribs
OMIM:607872	PRDM16	63976	HP:0000343	Long philtrum
OMIM:607872	PRDM16	63976	HP:0001679	Abnormality of the aorta
OMIM:607872	PRDM16	63976	HP:0000252	Microcephaly
OMIM:607872	PRDM16	63976	HP:0000718	Aggressive behavior
OMIM:607872	PRDM16	63976	HP:0002101	Abnormal lung lobation
OMIM:607872	PRDM16	63976	HP:0000193	Bifid uvula
OMIM:607872	PRDM16	63976	HP:0000248	Brachycephaly
OMIM:607872	PRDM16	63976	HP:0000407	Sensorineural hearing impairment
OMIM:607872	PRDM16	63976	HP:0000204	Cleft upper lip
OMIM:607872	PRDM16	63976	HP:0002167	Neurological speech impairment
OMIM:607872	PRDM16	63976	HP:0000077	Abnormality of the kidney
OMIM:607872	PRDM16	63976	HP:0004378	Abnormality of the anus
OMIM:607872	PRDM16	63976	HP:0000494	Downslanted palpebral fissures
OMIM:607872	PRDM16	63976	HP:0001288	Gait disturbance
OMIM:607872	PRDM16	63976	HP:0009237	Short 5th finger
OMIM:607872	PRDM16	63976	HP:0001655	Patent foramen ovale
OMIM:607872	PRDM16	63976	HP:0001761	Pes cavus
OMIM:607872	PRDM16	63976	HP:0000316	Hypertelorism
OMIM:607872	PRDM16	63976	HP:0002242	Abnormality of the intestine
OMIM:607872	PRDM16	63976	HP:0001274	Agenesis of corpus callosum
OMIM:607872	PRDM16	63976	HP:0009553	Abnormality of the hairline
OMIM:607872	PRDM16	63976	HP:0000878	11 pairs of ribs
OMIM:607872	PRDM16	63976	HP:0002188	Delayed CNS myelination
OMIM:607872	PRDM16	63976	HP:0100627	Displacement of the external urethral meatus
OMIM:607872	PRDM16	63976	HP:0000664	Synophrys
OMIM:607872	PRDM16	63976	HP:0001829	Foot polydactyly
OMIM:607872	PRDM16	63976	HP:0000107	Renal cyst
OMIM:607872	PRDM16	63976	HP:0000545	Myopia
OMIM:607872	PRDM16	63976	HP:0002020	Gastroesophageal reflux
OMIM:607872	PRDM16	63976	HP:0011800	Hypoplasia of midface
OMIM:607872	PRDM16	63976	HP:0000272	Malar flattening
OMIM:607872	PRDM16	63976	HP:0000055	Abnormality of female external genitalia
OMIM:607872	PRDM16	63976	HP:0003812	Phenotypic variability
OMIM:607872	PRDM16	63976	HP:0001385	Hip dysplasia
OMIM:607872	PRDM16	63976	HP:0000821	Hypothyroidism
OMIM:607872	PRDM16	63976	HP:0001654	Abnormality of the heart valves
OMIM:607872	PRDM16	63976	HP:0001636	Tetralogy of Fallot
OMIM:607872	PRDM16	63976	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:607872	PRDM16	63976	HP:0001773	Short foot
OMIM:607872	PRDM16	63976	HP:0001107	Ocular albinism
OMIM:607872	PRDM16	63976	HP:0000176	Submucous cleft hard palate
OMIM:613736	PSENEN	55851	HP:0100838	Recurrent cutaneous abscess formation
OMIM:616326	MUSK	4593	HP:0001252	Muscular hypotonia
OMIM:616326	MUSK	4593	HP:0003391	Gowers sign
OMIM:616326	MUSK	4593	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616326	MUSK	4593	HP:0001558	Decreased fetal movement
OMIM:616326	MUSK	4593	HP:0000508	Ptosis
OMIM:616326	MUSK	4593	HP:0011968	Feeding difficulties
OMIM:616326	MUSK	4593	HP:0002093	Respiratory insufficiency
OMIM:616326	MUSK	4593	HP:0000276	Long face
OMIM:616326	MUSK	4593	HP:0000218	High palate
OMIM:616326	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:616326	CHRNB1	1140	HP:0003391	Gowers sign
OMIM:616326	CHRNB1	1140	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616326	CHRNB1	1140	HP:0001558	Decreased fetal movement
OMIM:616326	CHRNB1	1140	HP:0000508	Ptosis
OMIM:616326	CHRNB1	1140	HP:0011968	Feeding difficulties
OMIM:616326	CHRNB1	1140	HP:0002093	Respiratory insufficiency
OMIM:616326	CHRNB1	1140	HP:0000276	Long face
OMIM:616326	CHRNB1	1140	HP:0000218	High palate
OMIM:616326	DOK7	285489	HP:0001252	Muscular hypotonia
OMIM:616326	DOK7	285489	HP:0003391	Gowers sign
OMIM:616326	DOK7	285489	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616326	DOK7	285489	HP:0001558	Decreased fetal movement
OMIM:616326	DOK7	285489	HP:0000508	Ptosis
OMIM:616326	DOK7	285489	HP:0011968	Feeding difficulties
OMIM:616326	DOK7	285489	HP:0002093	Respiratory insufficiency
OMIM:616326	DOK7	285489	HP:0000276	Long face
OMIM:616326	DOK7	285489	HP:0000218	High palate
OMIM:616326	LRP4	4038	HP:0001252	Muscular hypotonia
OMIM:616326	LRP4	4038	HP:0003391	Gowers sign
OMIM:616326	LRP4	4038	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616326	LRP4	4038	HP:0001558	Decreased fetal movement
OMIM:616326	LRP4	4038	HP:0000508	Ptosis
OMIM:616326	LRP4	4038	HP:0011968	Feeding difficulties
OMIM:616326	LRP4	4038	HP:0002093	Respiratory insufficiency
OMIM:616326	LRP4	4038	HP:0000276	Long face
OMIM:616326	LRP4	4038	HP:0000218	High palate
OMIM:616326	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:616326	CHRND	1144	HP:0003391	Gowers sign
OMIM:616326	CHRND	1144	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616326	CHRND	1144	HP:0001558	Decreased fetal movement
OMIM:616326	CHRND	1144	HP:0000508	Ptosis
OMIM:616326	CHRND	1144	HP:0011968	Feeding difficulties
OMIM:616326	CHRND	1144	HP:0002093	Respiratory insufficiency
OMIM:616326	CHRND	1144	HP:0000276	Long face
OMIM:616326	CHRND	1144	HP:0000218	High palate
OMIM:616326	RAPSN	5913	HP:0001252	Muscular hypotonia
OMIM:616326	RAPSN	5913	HP:0003391	Gowers sign
OMIM:616326	RAPSN	5913	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616326	RAPSN	5913	HP:0001558	Decreased fetal movement
OMIM:616326	RAPSN	5913	HP:0000508	Ptosis
OMIM:616326	RAPSN	5913	HP:0011968	Feeding difficulties
OMIM:616326	RAPSN	5913	HP:0002093	Respiratory insufficiency
OMIM:616326	RAPSN	5913	HP:0000276	Long face
OMIM:616326	RAPSN	5913	HP:0000218	High palate
OMIM:616326	SCN4A	6329	HP:0001252	Muscular hypotonia
OMIM:616326	SCN4A	6329	HP:0003391	Gowers sign
OMIM:616326	SCN4A	6329	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616326	SCN4A	6329	HP:0001558	Decreased fetal movement
OMIM:616326	SCN4A	6329	HP:0000508	Ptosis
OMIM:616326	SCN4A	6329	HP:0011968	Feeding difficulties
OMIM:616326	SCN4A	6329	HP:0002093	Respiratory insufficiency
OMIM:616326	SCN4A	6329	HP:0000276	Long face
OMIM:616326	SCN4A	6329	HP:0000218	High palate
OMIM:616326	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:616326	CHRNE	1145	HP:0003391	Gowers sign
OMIM:616326	CHRNE	1145	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616326	CHRNE	1145	HP:0001558	Decreased fetal movement
OMIM:616326	CHRNE	1145	HP:0000508	Ptosis
OMIM:616326	CHRNE	1145	HP:0011968	Feeding difficulties
OMIM:616326	CHRNE	1145	HP:0002093	Respiratory insufficiency
OMIM:616326	CHRNE	1145	HP:0000276	Long face
OMIM:616326	CHRNE	1145	HP:0000218	High palate
OMIM:616326	AGRN	375790	HP:0001252	Muscular hypotonia
OMIM:616326	AGRN	375790	HP:0003391	Gowers sign
OMIM:616326	AGRN	375790	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616326	AGRN	375790	HP:0001558	Decreased fetal movement
OMIM:616326	AGRN	375790	HP:0000508	Ptosis
OMIM:616326	AGRN	375790	HP:0011968	Feeding difficulties
OMIM:616326	AGRN	375790	HP:0002093	Respiratory insufficiency
OMIM:616326	AGRN	375790	HP:0000276	Long face
OMIM:616326	AGRN	375790	HP:0000218	High palate
OMIM:616326	CHRNA1	1134	HP:0001252	Muscular hypotonia
OMIM:616326	CHRNA1	1134	HP:0003391	Gowers sign
OMIM:616326	CHRNA1	1134	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616326	CHRNA1	1134	HP:0001558	Decreased fetal movement
OMIM:616326	CHRNA1	1134	HP:0000508	Ptosis
OMIM:616326	CHRNA1	1134	HP:0011968	Feeding difficulties
OMIM:616326	CHRNA1	1134	HP:0002093	Respiratory insufficiency
OMIM:616326	CHRNA1	1134	HP:0000276	Long face
OMIM:616326	CHRNA1	1134	HP:0000218	High palate
OMIM:615554	PRLR	5618	HP:0000006	Autosomal dominant inheritance
OMIM:601764	SCN2A	6326	HP:0007334	Bilateral convulsive seizures
OMIM:601764	SCN2A	6326	HP:0002197	Generalized seizures
OMIM:601764	SCN2A	6326	HP:0007359	Focal seizures
OMIM:601764	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:601764	SCN2A	6326	HP:0000961	Cyanosis
OMIM:601764	SCN2A	6326	HP:0011146	Dialeptic seizures
OMIM:601764	KCNQ2	3785	HP:0007334	Bilateral convulsive seizures
OMIM:601764	KCNQ2	3785	HP:0002197	Generalized seizures
OMIM:601764	KCNQ2	3785	HP:0007359	Focal seizures
OMIM:601764	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:601764	KCNQ2	3785	HP:0000961	Cyanosis
OMIM:601764	KCNQ2	3785	HP:0011146	Dialeptic seizures
OMIM:601764	KCNQ3	3786	HP:0007334	Bilateral convulsive seizures
OMIM:601764	KCNQ3	3786	HP:0002197	Generalized seizures
OMIM:601764	KCNQ3	3786	HP:0007359	Focal seizures
OMIM:601764	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:601764	KCNQ3	3786	HP:0000961	Cyanosis
OMIM:601764	KCNQ3	3786	HP:0011146	Dialeptic seizures
OMIM:601764	PRRT2	112476	HP:0007334	Bilateral convulsive seizures
OMIM:601764	PRRT2	112476	HP:0002197	Generalized seizures
OMIM:601764	PRRT2	112476	HP:0007359	Focal seizures
OMIM:601764	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:601764	PRRT2	112476	HP:0000961	Cyanosis
OMIM:601764	PRRT2	112476	HP:0011146	Dialeptic seizures
OMIM:614253	FAM20A	54757	HP:0000169	Gingival fibromatosis
OMIM:614253	FAM20A	54757	HP:0100543	Cognitive impairment
OMIM:614253	FAM20A	54757	HP:0000212	Gingival overgrowth
OMIM:614253	FAM20A	54757	HP:0000574	Thick eyebrow
OMIM:614253	FAM20A	54757	HP:0000682	Abnormality of dental enamel
OMIM:614253	FAM20A	54757	HP:0000007	Autosomal recessive inheritance
OMIM:614253	FAM20A	54757	HP:0001250	Seizures
OMIM:614253	FAM20A	54757	HP:0000951	Abnormality of the skin
OMIM:610093	VSX2	338917	HP:0000568	Microphthalmia
OMIM:610093	VSX2	338917	HP:0000007	Autosomal recessive inheritance
OMIM:610093	SOX2	6657	HP:0000568	Microphthalmia
OMIM:610093	SOX2	6657	HP:0000007	Autosomal recessive inheritance
OMIM:610093	GDF3	9573	HP:0000568	Microphthalmia
OMIM:610093	GDF3	9573	HP:0000007	Autosomal recessive inheritance
OMIM:610093	OTX2	5015	HP:0000568	Microphthalmia
OMIM:610093	OTX2	5015	HP:0000007	Autosomal recessive inheritance
OMIM:610093	PRSS56	646960	HP:0000568	Microphthalmia
OMIM:610093	PRSS56	646960	HP:0000007	Autosomal recessive inheritance
OMIM:610093	ALDH1A3	220	HP:0000568	Microphthalmia
OMIM:610093	ALDH1A3	220	HP:0000007	Autosomal recessive inheritance
OMIM:610093	SIX6	4990	HP:0000568	Microphthalmia
OMIM:610093	SIX6	4990	HP:0000007	Autosomal recessive inheritance
OMIM:610093	RAX	30062	HP:0000568	Microphthalmia
OMIM:610093	RAX	30062	HP:0000007	Autosomal recessive inheritance
OMIM:614782	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:614376	WDR19	57728	HP:0000774	Narrow chest
OMIM:614376	WDR19	57728	HP:0000093	Proteinuria
OMIM:614376	WDR19	57728	HP:0001773	Short foot
OMIM:614376	WDR19	57728	HP:0000023	Inguinal hernia
OMIM:614376	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:614376	WDR19	57728	HP:0000293	Full cheeks
OMIM:614376	WDR19	57728	HP:0000518	Cataract
OMIM:614376	WDR19	57728	HP:0000219	Thin upper lip vermilion
OMIM:614376	WDR19	57728	HP:0001156	Brachydactyly syndrome
OMIM:614376	WDR19	57728	HP:0000545	Myopia
OMIM:614376	WDR19	57728	HP:0008905	Rhizomelia
OMIM:614376	WDR19	57728	HP:0003016	Metaphyseal widening
OMIM:614376	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
OMIM:614376	WDR19	57728	HP:0000089	Renal hypoplasia
OMIM:614376	WDR19	57728	HP:0003259	Elevated serum creatinine
OMIM:614376	TTC21B	79809	HP:0000774	Narrow chest
OMIM:614376	TTC21B	79809	HP:0000093	Proteinuria
OMIM:614376	TTC21B	79809	HP:0001773	Short foot
OMIM:614376	TTC21B	79809	HP:0000023	Inguinal hernia
OMIM:614376	TTC21B	79809	HP:0000007	Autosomal recessive inheritance
OMIM:614376	TTC21B	79809	HP:0000293	Full cheeks
OMIM:614376	TTC21B	79809	HP:0000518	Cataract
OMIM:614376	TTC21B	79809	HP:0000219	Thin upper lip vermilion
OMIM:614376	TTC21B	79809	HP:0001156	Brachydactyly syndrome
OMIM:614376	TTC21B	79809	HP:0000545	Myopia
OMIM:614376	TTC21B	79809	HP:0008905	Rhizomelia
OMIM:614376	TTC21B	79809	HP:0003016	Metaphyseal widening
OMIM:614376	TTC21B	79809	HP:0003774	Stage 5 chronic kidney disease
OMIM:614376	TTC21B	79809	HP:0000089	Renal hypoplasia
OMIM:614376	TTC21B	79809	HP:0003259	Elevated serum creatinine
OMIM:614376	IFT172	26160	HP:0000774	Narrow chest
OMIM:614376	IFT172	26160	HP:0000093	Proteinuria
OMIM:614376	IFT172	26160	HP:0001773	Short foot
OMIM:614376	IFT172	26160	HP:0000023	Inguinal hernia
OMIM:614376	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:614376	IFT172	26160	HP:0000293	Full cheeks
OMIM:614376	IFT172	26160	HP:0000518	Cataract
OMIM:614376	IFT172	26160	HP:0000219	Thin upper lip vermilion
OMIM:614376	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:614376	IFT172	26160	HP:0000545	Myopia
OMIM:614376	IFT172	26160	HP:0008905	Rhizomelia
OMIM:614376	IFT172	26160	HP:0003016	Metaphyseal widening
OMIM:614376	IFT172	26160	HP:0003774	Stage 5 chronic kidney disease
OMIM:614376	IFT172	26160	HP:0000089	Renal hypoplasia
OMIM:614376	IFT172	26160	HP:0003259	Elevated serum creatinine
OMIM:614376	WDR34	89891	HP:0000774	Narrow chest
OMIM:614376	WDR34	89891	HP:0000093	Proteinuria
OMIM:614376	WDR34	89891	HP:0001773	Short foot
OMIM:614376	WDR34	89891	HP:0000023	Inguinal hernia
OMIM:614376	WDR34	89891	HP:0000007	Autosomal recessive inheritance
OMIM:614376	WDR34	89891	HP:0000293	Full cheeks
OMIM:614376	WDR34	89891	HP:0000518	Cataract
OMIM:614376	WDR34	89891	HP:0000219	Thin upper lip vermilion
OMIM:614376	WDR34	89891	HP:0001156	Brachydactyly syndrome
OMIM:614376	WDR34	89891	HP:0000545	Myopia
OMIM:614376	WDR34	89891	HP:0008905	Rhizomelia
OMIM:614376	WDR34	89891	HP:0003016	Metaphyseal widening
OMIM:614376	WDR34	89891	HP:0003774	Stage 5 chronic kidney disease
OMIM:614376	WDR34	89891	HP:0000089	Renal hypoplasia
OMIM:614376	WDR34	89891	HP:0003259	Elevated serum creatinine
OMIM:614376	IFT80	57560	HP:0000774	Narrow chest
OMIM:614376	IFT80	57560	HP:0000093	Proteinuria
OMIM:614376	IFT80	57560	HP:0001773	Short foot
OMIM:614376	IFT80	57560	HP:0000023	Inguinal hernia
OMIM:614376	IFT80	57560	HP:0000007	Autosomal recessive inheritance
OMIM:614376	IFT80	57560	HP:0000293	Full cheeks
OMIM:614376	IFT80	57560	HP:0000518	Cataract
OMIM:614376	IFT80	57560	HP:0000219	Thin upper lip vermilion
OMIM:614376	IFT80	57560	HP:0001156	Brachydactyly syndrome
OMIM:614376	IFT80	57560	HP:0000545	Myopia
OMIM:614376	IFT80	57560	HP:0008905	Rhizomelia
OMIM:614376	IFT80	57560	HP:0003016	Metaphyseal widening
OMIM:614376	IFT80	57560	HP:0003774	Stage 5 chronic kidney disease
OMIM:614376	IFT80	57560	HP:0000089	Renal hypoplasia
OMIM:614376	IFT80	57560	HP:0003259	Elevated serum creatinine
OMIM:614376	WDR60	55112	HP:0000774	Narrow chest
OMIM:614376	WDR60	55112	HP:0000093	Proteinuria
OMIM:614376	WDR60	55112	HP:0001773	Short foot
OMIM:614376	WDR60	55112	HP:0000023	Inguinal hernia
OMIM:614376	WDR60	55112	HP:0000007	Autosomal recessive inheritance
OMIM:614376	WDR60	55112	HP:0000293	Full cheeks
OMIM:614376	WDR60	55112	HP:0000518	Cataract
OMIM:614376	WDR60	55112	HP:0000219	Thin upper lip vermilion
OMIM:614376	WDR60	55112	HP:0001156	Brachydactyly syndrome
OMIM:614376	WDR60	55112	HP:0000545	Myopia
OMIM:614376	WDR60	55112	HP:0008905	Rhizomelia
OMIM:614376	WDR60	55112	HP:0003016	Metaphyseal widening
OMIM:614376	WDR60	55112	HP:0003774	Stage 5 chronic kidney disease
OMIM:614376	WDR60	55112	HP:0000089	Renal hypoplasia
OMIM:614376	WDR60	55112	HP:0003259	Elevated serum creatinine
OMIM:614376	DYNC2H1	79659	HP:0000774	Narrow chest
OMIM:614376	DYNC2H1	79659	HP:0000093	Proteinuria
OMIM:614376	DYNC2H1	79659	HP:0001773	Short foot
OMIM:614376	DYNC2H1	79659	HP:0000023	Inguinal hernia
OMIM:614376	DYNC2H1	79659	HP:0000007	Autosomal recessive inheritance
OMIM:614376	DYNC2H1	79659	HP:0000293	Full cheeks
OMIM:614376	DYNC2H1	79659	HP:0000518	Cataract
OMIM:614376	DYNC2H1	79659	HP:0000219	Thin upper lip vermilion
OMIM:614376	DYNC2H1	79659	HP:0001156	Brachydactyly syndrome
OMIM:614376	DYNC2H1	79659	HP:0000545	Myopia
OMIM:614376	DYNC2H1	79659	HP:0008905	Rhizomelia
OMIM:614376	DYNC2H1	79659	HP:0003016	Metaphyseal widening
OMIM:614376	DYNC2H1	79659	HP:0003774	Stage 5 chronic kidney disease
OMIM:614376	DYNC2H1	79659	HP:0000089	Renal hypoplasia
OMIM:614376	DYNC2H1	79659	HP:0003259	Elevated serum creatinine
OMIM:614376	CEP120	153241	HP:0000774	Narrow chest
OMIM:614376	CEP120	153241	HP:0000093	Proteinuria
OMIM:614376	CEP120	153241	HP:0001773	Short foot
OMIM:614376	CEP120	153241	HP:0000023	Inguinal hernia
OMIM:614376	CEP120	153241	HP:0000007	Autosomal recessive inheritance
OMIM:614376	CEP120	153241	HP:0000293	Full cheeks
OMIM:614376	CEP120	153241	HP:0000518	Cataract
OMIM:614376	CEP120	153241	HP:0000219	Thin upper lip vermilion
OMIM:614376	CEP120	153241	HP:0001156	Brachydactyly syndrome
OMIM:614376	CEP120	153241	HP:0000545	Myopia
OMIM:614376	CEP120	153241	HP:0008905	Rhizomelia
OMIM:614376	CEP120	153241	HP:0003016	Metaphyseal widening
OMIM:614376	CEP120	153241	HP:0003774	Stage 5 chronic kidney disease
OMIM:614376	CEP120	153241	HP:0000089	Renal hypoplasia
OMIM:614376	CEP120	153241	HP:0003259	Elevated serum creatinine
OMIM:614376	IFT140	9742	HP:0000774	Narrow chest
OMIM:614376	IFT140	9742	HP:0000093	Proteinuria
OMIM:614376	IFT140	9742	HP:0001773	Short foot
OMIM:614376	IFT140	9742	HP:0000023	Inguinal hernia
OMIM:614376	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:614376	IFT140	9742	HP:0000293	Full cheeks
OMIM:614376	IFT140	9742	HP:0000518	Cataract
OMIM:614376	IFT140	9742	HP:0000219	Thin upper lip vermilion
OMIM:614376	IFT140	9742	HP:0001156	Brachydactyly syndrome
OMIM:614376	IFT140	9742	HP:0000545	Myopia
OMIM:614376	IFT140	9742	HP:0008905	Rhizomelia
OMIM:614376	IFT140	9742	HP:0003016	Metaphyseal widening
OMIM:614376	IFT140	9742	HP:0003774	Stage 5 chronic kidney disease
OMIM:614376	IFT140	9742	HP:0000089	Renal hypoplasia
OMIM:614376	IFT140	9742	HP:0003259	Elevated serum creatinine
OMIM:615278	BRAF	673	HP:0003477	Peripheral axonal neuropathy
OMIM:615278	BRAF	673	HP:0008070	Sparse hair
OMIM:615278	BRAF	673	HP:0000358	Posteriorly rotated ears
OMIM:615278	BRAF	673	HP:0001263	Global developmental delay
OMIM:615278	BRAF	673	HP:0000508	Ptosis
OMIM:615278	BRAF	673	HP:0002212	Curly hair
OMIM:615278	BRAF	673	HP:0000369	Low-set ears
OMIM:615278	BRAF	673	HP:0002213	Fine hair
OMIM:615278	BRAF	673	HP:0001634	Mitral valve prolapse
OMIM:615278	BRAF	673	HP:0000545	Myopia
OMIM:615278	BRAF	673	HP:0000218	High palate
OMIM:615278	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:615278	BRAF	673	HP:0000337	Broad forehead
OMIM:615278	BRAF	673	HP:0000463	Anteverted nares
OMIM:615278	BRAF	673	HP:0000280	Coarse facial features
OMIM:615278	MAP2K1	5604	HP:0003477	Peripheral axonal neuropathy
OMIM:615278	MAP2K1	5604	HP:0008070	Sparse hair
OMIM:615278	MAP2K1	5604	HP:0000358	Posteriorly rotated ears
OMIM:615278	MAP2K1	5604	HP:0001263	Global developmental delay
OMIM:615278	MAP2K1	5604	HP:0000508	Ptosis
OMIM:615278	MAP2K1	5604	HP:0002212	Curly hair
OMIM:615278	MAP2K1	5604	HP:0000369	Low-set ears
OMIM:615278	MAP2K1	5604	HP:0002213	Fine hair
OMIM:615278	MAP2K1	5604	HP:0001634	Mitral valve prolapse
OMIM:615278	MAP2K1	5604	HP:0000545	Myopia
OMIM:615278	MAP2K1	5604	HP:0000218	High palate
OMIM:615278	MAP2K1	5604	HP:0000006	Autosomal dominant inheritance
OMIM:615278	MAP2K1	5604	HP:0000337	Broad forehead
OMIM:615278	MAP2K1	5604	HP:0000463	Anteverted nares
OMIM:615278	MAP2K1	5604	HP:0000280	Coarse facial features
OMIM:615278	KRAS	3845	HP:0003477	Peripheral axonal neuropathy
OMIM:615278	KRAS	3845	HP:0008070	Sparse hair
OMIM:615278	KRAS	3845	HP:0000358	Posteriorly rotated ears
OMIM:615278	KRAS	3845	HP:0001263	Global developmental delay
OMIM:615278	KRAS	3845	HP:0000508	Ptosis
OMIM:615278	KRAS	3845	HP:0002212	Curly hair
OMIM:615278	KRAS	3845	HP:0000369	Low-set ears
OMIM:615278	KRAS	3845	HP:0002213	Fine hair
OMIM:615278	KRAS	3845	HP:0001634	Mitral valve prolapse
OMIM:615278	KRAS	3845	HP:0000545	Myopia
OMIM:615278	KRAS	3845	HP:0000218	High palate
OMIM:615278	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:615278	KRAS	3845	HP:0000337	Broad forehead
OMIM:615278	KRAS	3845	HP:0000463	Anteverted nares
OMIM:615278	KRAS	3845	HP:0000280	Coarse facial features
OMIM:615278	MAP2K2	5605	HP:0003477	Peripheral axonal neuropathy
OMIM:615278	MAP2K2	5605	HP:0008070	Sparse hair
OMIM:615278	MAP2K2	5605	HP:0000358	Posteriorly rotated ears
OMIM:615278	MAP2K2	5605	HP:0001263	Global developmental delay
OMIM:615278	MAP2K2	5605	HP:0000508	Ptosis
OMIM:615278	MAP2K2	5605	HP:0002212	Curly hair
OMIM:615278	MAP2K2	5605	HP:0000369	Low-set ears
OMIM:615278	MAP2K2	5605	HP:0002213	Fine hair
OMIM:615278	MAP2K2	5605	HP:0001634	Mitral valve prolapse
OMIM:615278	MAP2K2	5605	HP:0000545	Myopia
OMIM:615278	MAP2K2	5605	HP:0000218	High palate
OMIM:615278	MAP2K2	5605	HP:0000006	Autosomal dominant inheritance
OMIM:615278	MAP2K2	5605	HP:0000337	Broad forehead
OMIM:615278	MAP2K2	5605	HP:0000463	Anteverted nares
OMIM:615278	MAP2K2	5605	HP:0000280	Coarse facial features
OMIM:147891	TBX4	9496	HP:0002999	Patellar dislocation
OMIM:147891	TBX4	9496	HP:0006443	Patellar aplasia
OMIM:147891	TBX4	9496	HP:0000347	Micrognathia
OMIM:147891	TBX4	9496	HP:0001763	Pes planus
OMIM:147891	TBX4	9496	HP:0000175	Cleft palate
OMIM:147891	TBX4	9496	HP:0000218	High palate
OMIM:147891	TBX4	9496	HP:0003272	Abnormality of the hip bone
OMIM:147891	TBX4	9496	HP:0000006	Autosomal dominant inheritance
OMIM:147891	TBX4	9496	HP:0001852	Sandal gap
OMIM:605249	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:605249	MYH9	4627	HP:0001873	Thrombocytopenia
OMIM:605249	MYH9	4627	HP:0003010	Prolonged bleeding time
OMIM:605249	MYH9	4627	HP:0000421	Epistaxis
OMIM:160150	BIN1	274	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:160150	BIN1	274	HP:0000508	Ptosis
OMIM:160150	BIN1	274	HP:0003701	Proximal muscle weakness
OMIM:160150	BIN1	274	HP:0000544	External ophthalmoplegia
OMIM:160150	BIN1	274	HP:0001284	Areflexia
OMIM:160150	BIN1	274	HP:0001270	Motor delay
OMIM:160150	BIN1	274	HP:0000006	Autosomal dominant inheritance
OMIM:160150	BIN1	274	HP:0003712	Skeletal muscle hypertrophy
OMIM:160150	BIN1	274	HP:0001371	Flexion contracture
OMIM:160150	BIN1	274	HP:0003677	Slow progression
OMIM:160150	BIN1	274	HP:0010628	Facial palsy
OMIM:160150	MTMR14	64419	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:160150	MTMR14	64419	HP:0000508	Ptosis
OMIM:160150	MTMR14	64419	HP:0003701	Proximal muscle weakness
OMIM:160150	MTMR14	64419	HP:0000544	External ophthalmoplegia
OMIM:160150	MTMR14	64419	HP:0001284	Areflexia
OMIM:160150	MTMR14	64419	HP:0001270	Motor delay
OMIM:160150	MTMR14	64419	HP:0000006	Autosomal dominant inheritance
OMIM:160150	MTMR14	64419	HP:0003712	Skeletal muscle hypertrophy
OMIM:160150	MTMR14	64419	HP:0001371	Flexion contracture
OMIM:160150	MTMR14	64419	HP:0003677	Slow progression
OMIM:160150	MTMR14	64419	HP:0010628	Facial palsy
OMIM:160150	RYR1	6261	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:160150	RYR1	6261	HP:0000508	Ptosis
OMIM:160150	RYR1	6261	HP:0003701	Proximal muscle weakness
OMIM:160150	RYR1	6261	HP:0000544	External ophthalmoplegia
OMIM:160150	RYR1	6261	HP:0001284	Areflexia
OMIM:160150	RYR1	6261	HP:0001270	Motor delay
OMIM:160150	RYR1	6261	HP:0000006	Autosomal dominant inheritance
OMIM:160150	RYR1	6261	HP:0003712	Skeletal muscle hypertrophy
OMIM:160150	RYR1	6261	HP:0001371	Flexion contracture
OMIM:160150	RYR1	6261	HP:0003677	Slow progression
OMIM:160150	RYR1	6261	HP:0010628	Facial palsy
OMIM:160150	DNM2	1785	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:160150	DNM2	1785	HP:0000508	Ptosis
OMIM:160150	DNM2	1785	HP:0003701	Proximal muscle weakness
OMIM:160150	DNM2	1785	HP:0000544	External ophthalmoplegia
OMIM:160150	DNM2	1785	HP:0001284	Areflexia
OMIM:160150	DNM2	1785	HP:0001270	Motor delay
OMIM:160150	DNM2	1785	HP:0000006	Autosomal dominant inheritance
OMIM:160150	DNM2	1785	HP:0003712	Skeletal muscle hypertrophy
OMIM:160150	DNM2	1785	HP:0001371	Flexion contracture
OMIM:160150	DNM2	1785	HP:0003677	Slow progression
OMIM:160150	DNM2	1785	HP:0010628	Facial palsy
OMIM:160150	MYF6	4618	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:160150	MYF6	4618	HP:0000508	Ptosis
OMIM:160150	MYF6	4618	HP:0003701	Proximal muscle weakness
OMIM:160150	MYF6	4618	HP:0000544	External ophthalmoplegia
OMIM:160150	MYF6	4618	HP:0001284	Areflexia
OMIM:160150	MYF6	4618	HP:0001270	Motor delay
OMIM:160150	MYF6	4618	HP:0000006	Autosomal dominant inheritance
OMIM:160150	MYF6	4618	HP:0003712	Skeletal muscle hypertrophy
OMIM:160150	MYF6	4618	HP:0001371	Flexion contracture
OMIM:160150	MYF6	4618	HP:0003677	Slow progression
OMIM:160150	MYF6	4618	HP:0010628	Facial palsy
OMIM:607473	GGCX	2677	HP:0001892	Abnormal bleeding
OMIM:607473	GGCX	2677	HP:0000007	Autosomal recessive inheritance
OMIM:607473	VKORC1	79001	HP:0001892	Abnormal bleeding
OMIM:607473	VKORC1	79001	HP:0000007	Autosomal recessive inheritance
OMIM:610478	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:610478	AIPL1	23746	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	AIPL1	23746	HP:0000505	Visual impairment
OMIM:610478	PITPNM3	83394	HP:0000007	Autosomal recessive inheritance
OMIM:610478	PITPNM3	83394	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	PITPNM3	83394	HP:0000505	Visual impairment
OMIM:610478	OPN1LW	5956	HP:0000007	Autosomal recessive inheritance
OMIM:610478	OPN1LW	5956	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	OPN1LW	5956	HP:0000505	Visual impairment
OMIM:610478	UNC119	9094	HP:0000007	Autosomal recessive inheritance
OMIM:610478	UNC119	9094	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	UNC119	9094	HP:0000505	Visual impairment
OMIM:610478	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:610478	RPGRIP1	57096	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:610478	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:610478	PRPH2	5961	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	PRPH2	5961	HP:0000505	Visual impairment
OMIM:610478	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:610478	CACNA1F	778	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	CACNA1F	778	HP:0000505	Visual impairment
OMIM:610478	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:610478	PROM1	8842	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	PROM1	8842	HP:0000505	Visual impairment
OMIM:610478	DRAM2	128338	HP:0000007	Autosomal recessive inheritance
OMIM:610478	DRAM2	128338	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	DRAM2	128338	HP:0000505	Visual impairment
OMIM:610478	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:610478	CACNA2D4	93589	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	CACNA2D4	93589	HP:0000505	Visual impairment
OMIM:610478	RAB28	9364	HP:0000007	Autosomal recessive inheritance
OMIM:610478	RAB28	9364	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	RAB28	9364	HP:0000505	Visual impairment
OMIM:610478	RIMS1	22999	HP:0000007	Autosomal recessive inheritance
OMIM:610478	RIMS1	22999	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	RIMS1	22999	HP:0000505	Visual impairment
OMIM:610478	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:610478	RPGR	6103	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	RPGR	6103	HP:0000505	Visual impairment
OMIM:610478	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:610478	ABCA4	24	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	ABCA4	24	HP:0000505	Visual impairment
OMIM:610478	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:610478	SEMA4A	64218	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:610478	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:610478	C8ORF37	157657	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:610478	OPN1MW	2652	HP:0000007	Autosomal recessive inheritance
OMIM:610478	OPN1MW	2652	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	OPN1MW	2652	HP:0000505	Visual impairment
OMIM:610478	GUCA1A	2978	HP:0000007	Autosomal recessive inheritance
OMIM:610478	GUCA1A	2978	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	GUCA1A	2978	HP:0000505	Visual impairment
OMIM:610478	RAX2	84839	HP:0000007	Autosomal recessive inheritance
OMIM:610478	RAX2	84839	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	RAX2	84839	HP:0000505	Visual impairment
OMIM:610478	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:610478	CNGA3	1261	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	CNGA3	1261	HP:0000505	Visual impairment
OMIM:610478	ADAM9	8754	HP:0000007	Autosomal recessive inheritance
OMIM:610478	ADAM9	8754	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	ADAM9	8754	HP:0000505	Visual impairment
OMIM:610478	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:610478	CDHR1	92211	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	CDHR1	92211	HP:0000505	Visual impairment
OMIM:610478	TTLL5	23093	HP:0000007	Autosomal recessive inheritance
OMIM:610478	TTLL5	23093	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	TTLL5	23093	HP:0000505	Visual impairment
OMIM:610478	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:610478	GUCY2D	3000	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:610478	POC1B	282809	HP:0000007	Autosomal recessive inheritance
OMIM:610478	POC1B	282809	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	POC1B	282809	HP:0000505	Visual impairment
OMIM:610478	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:610478	CRX	1406	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610478	CRX	1406	HP:0000505	Visual impairment
OMIM:612964	NR5A1	2516	HP:0001470	Sex-limited autosomal dominant
OMIM:615424	VCP	7415	HP:0006785	Limb-girdle muscular dystrophy
OMIM:615424	VCP	7415	HP:0003701	Proximal muscle weakness
OMIM:615424	VCP	7415	HP:0003805	Rimmed vacuoles
OMIM:615424	VCP	7415	HP:0010991	Abnormality of the abdominal musculature
OMIM:615424	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:615424	VCP	7415	HP:0003198	Myopathy
OMIM:615424	VCP	7415	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:615424	HNRNPA1	3178	HP:0006785	Limb-girdle muscular dystrophy
OMIM:615424	HNRNPA1	3178	HP:0003701	Proximal muscle weakness
OMIM:615424	HNRNPA1	3178	HP:0003805	Rimmed vacuoles
OMIM:615424	HNRNPA1	3178	HP:0010991	Abnormality of the abdominal musculature
OMIM:615424	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:615424	HNRNPA1	3178	HP:0003198	Myopathy
OMIM:615424	HNRNPA1	3178	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:615424	HNRNPA2B1	3181	HP:0006785	Limb-girdle muscular dystrophy
OMIM:615424	HNRNPA2B1	3181	HP:0003701	Proximal muscle weakness
OMIM:615424	HNRNPA2B1	3181	HP:0003805	Rimmed vacuoles
OMIM:615424	HNRNPA2B1	3181	HP:0010991	Abnormality of the abdominal musculature
OMIM:615424	HNRNPA2B1	3181	HP:0000006	Autosomal dominant inheritance
OMIM:615424	HNRNPA2B1	3181	HP:0003198	Myopathy
OMIM:615424	HNRNPA2B1	3181	HP:0008180	Mildly elevated creatine phosphokinase
ORPHANET:745	PROC	5624	HP:0002204	Pulmonary embolism
ORPHANET:745	PROC	5624	HP:0004418	Thrombophlebitis
ORPHANET:745	PROC	5624	HP:0100659	Abnormality of the cerebral vasculature
ORPHANET:745	PROC	5624	HP:0000963	Thin skin
ORPHANET:745	PROC	5624	HP:0005293	Venous insufficiency
ORPHANET:745	PROC	5624	HP:0001000	Abnormality of skin pigmentation
ORPHANET:745	PROC	5624	HP:0200042	Skin ulcer
ORPHANET:745	PROC	5624	HP:0001933	Subcutaneous hemorrhage
OMIM:614369	MYH14	79784	HP:0001265	Hyporeflexia
OMIM:614369	MYH14	79784	HP:0003676	Progressive
OMIM:614369	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:614369	MYH14	79784	HP:0001760	Abnormality of the foot
OMIM:614369	MYH14	79784	HP:0001324	Muscle weakness
OMIM:614369	MYH14	79784	HP:0003202	Skeletal muscle atrophy
OMIM:614369	MYH14	79784	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:614369	MYH14	79784	HP:0001284	Areflexia
OMIM:614369	MYH14	79784	HP:0001609	Hoarse voice
OMIM:614369	MYH14	79784	HP:0009830	Peripheral neuropathy
OMIM:614369	MYH14	79784	HP:0001337	Tremor
OMIM:253010	GLB1	2720	HP:0003311	Hypoplasia of the odontoid process
OMIM:253010	GLB1	2720	HP:0002788	Recurrent upper respiratory tract infections
OMIM:253010	GLB1	2720	HP:0003521	Disproportionate short-trunk short stature
OMIM:253010	GLB1	2720	HP:0000939	Osteoporosis
OMIM:253010	GLB1	2720	HP:0002240	Hepatomegaly
OMIM:253010	GLB1	2720	HP:0002808	Kyphosis
OMIM:253010	GLB1	2720	HP:0002091	Restrictive lung disease
OMIM:253010	GLB1	2720	HP:0002857	Genu valgum
OMIM:253010	GLB1	2720	HP:0003307	Hyperlordosis
OMIM:253010	GLB1	2720	HP:0000023	Inguinal hernia
OMIM:253010	GLB1	2720	HP:0001388	Joint laxity
OMIM:253010	GLB1	2720	HP:0000007	Autosomal recessive inheritance
OMIM:253010	GLB1	2720	HP:0000670	Carious teeth
OMIM:253010	GLB1	2720	HP:0000687	Widely spaced teeth
OMIM:253010	GLB1	2720	HP:0001650	Aortic valve stenosis
OMIM:253010	GLB1	2720	HP:0002673	Coxa valga
OMIM:253010	GLB1	2720	HP:0003016	Metaphyseal widening
OMIM:253010	GLB1	2720	HP:0000365	Hearing impairment
OMIM:253010	GLB1	2720	HP:0003621	Juvenile onset
OMIM:253010	GLB1	2720	HP:0000154	Wide mouth
OMIM:253010	GLB1	2720	HP:0003300	Ovoid vertebral bodies
OMIM:253010	GLB1	2720	HP:0000280	Coarse facial features
OMIM:253010	GLB1	2720	HP:0000926	Platyspondyly
OMIM:253010	GLB1	2720	HP:0007759	Opacification of the corneal stroma
OMIM:253010	GLB1	2720	HP:0000303	Mandibular prognathia
OMIM:253010	GLB1	2720	HP:0002650	Scoliosis
OMIM:253010	GLB1	2720	HP:0000904	Flaring of rib cage
OMIM:262000	BCS1L	617	HP:0002299	Brittle hair
OMIM:262000	BCS1L	617	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:262000	BCS1L	617	HP:0000407	Sensorineural hearing impairment
OMIM:262000	BCS1L	617	HP:0003777	Pili torti
OMIM:262000	BCS1L	617	HP:0000007	Autosomal recessive inheritance
OMIM:262000	BCS1L	617	HP:0001596	Alopecia
OMIM:262000	BCS1L	617	HP:0002208	Coarse hair
OMIM:262000	BCS1L	617	HP:0000499	Abnormality of the eyelashes
OMIM:262000	BCS1L	617	HP:0000970	Anhidrosis
OMIM:262000	BCS1L	617	HP:0000998	Hypertrichosis
OMIM:262000	BCS1L	617	HP:0003828	Variable expressivity
OMIM:262000	BCS1L	617	HP:0000135	Hypogonadism
OMIM:262000	BCS1L	617	HP:0001249	Intellectual disability
OMIM:613750	RLBP1	6017	HP:0040049	Macular edema
OMIM:613750	RLBP1	6017	HP:0000505	Visual impairment
OMIM:613750	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613750	RLBP1	6017	HP:0000533	Chorioretinal atrophy
OMIM:613750	RLBP1	6017	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613750	RLBP1	6017	HP:0000550	Undetectable electroretinogram
OMIM:613750	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:613750	SPATA7	55812	HP:0040049	Macular edema
OMIM:613750	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613750	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613750	SPATA7	55812	HP:0000533	Chorioretinal atrophy
OMIM:613750	SPATA7	55812	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613750	SPATA7	55812	HP:0000550	Undetectable electroretinogram
OMIM:613750	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:613750	ARL6	84100	HP:0040049	Macular edema
OMIM:613750	ARL6	84100	HP:0000505	Visual impairment
OMIM:613750	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613750	ARL6	84100	HP:0000533	Chorioretinal atrophy
OMIM:613750	ARL6	84100	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613750	ARL6	84100	HP:0000550	Undetectable electroretinogram
OMIM:613750	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:613750	CERKL	375298	HP:0040049	Macular edema
OMIM:613750	CERKL	375298	HP:0000505	Visual impairment
OMIM:613750	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613750	CERKL	375298	HP:0000533	Chorioretinal atrophy
OMIM:613750	CERKL	375298	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613750	CERKL	375298	HP:0000550	Undetectable electroretinogram
OMIM:613750	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:613750	PRPF31	26121	HP:0040049	Macular edema
OMIM:613750	PRPF31	26121	HP:0000505	Visual impairment
OMIM:613750	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613750	PRPF31	26121	HP:0000533	Chorioretinal atrophy
OMIM:613750	PRPF31	26121	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613750	PRPF31	26121	HP:0000550	Undetectable electroretinogram
OMIM:613750	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:613750	TTC8	123016	HP:0040049	Macular edema
OMIM:613750	TTC8	123016	HP:0000505	Visual impairment
OMIM:613750	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613750	TTC8	123016	HP:0000533	Chorioretinal atrophy
OMIM:613750	TTC8	123016	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613750	TTC8	123016	HP:0000550	Undetectable electroretinogram
OMIM:613750	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:613750	PROM1	8842	HP:0040049	Macular edema
OMIM:613750	PROM1	8842	HP:0000505	Visual impairment
OMIM:613750	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613750	PROM1	8842	HP:0000533	Chorioretinal atrophy
OMIM:613750	PROM1	8842	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613750	PROM1	8842	HP:0000550	Undetectable electroretinogram
OMIM:613750	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:613750	LRAT	9227	HP:0040049	Macular edema
OMIM:613750	LRAT	9227	HP:0000505	Visual impairment
OMIM:613750	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613750	LRAT	9227	HP:0000533	Chorioretinal atrophy
OMIM:613750	LRAT	9227	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613750	LRAT	9227	HP:0000550	Undetectable electroretinogram
OMIM:613750	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:613750	IFT140	9742	HP:0040049	Macular edema
OMIM:613750	IFT140	9742	HP:0000505	Visual impairment
OMIM:613750	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613750	IFT140	9742	HP:0000533	Chorioretinal atrophy
OMIM:613750	IFT140	9742	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613750	IFT140	9742	HP:0000550	Undetectable electroretinogram
OMIM:613750	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:613750	BEST1	7439	HP:0040049	Macular edema
OMIM:613750	BEST1	7439	HP:0000505	Visual impairment
OMIM:613750	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613750	BEST1	7439	HP:0000533	Chorioretinal atrophy
OMIM:613750	BEST1	7439	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613750	BEST1	7439	HP:0000550	Undetectable electroretinogram
OMIM:613750	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:613750	NEK2	4751	HP:0040049	Macular edema
OMIM:613750	NEK2	4751	HP:0000505	Visual impairment
OMIM:613750	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613750	NEK2	4751	HP:0000533	Chorioretinal atrophy
OMIM:613750	NEK2	4751	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613750	NEK2	4751	HP:0000550	Undetectable electroretinogram
OMIM:613750	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:613750	ARL2BP	23568	HP:0040049	Macular edema
OMIM:613750	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:613750	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613750	ARL2BP	23568	HP:0000533	Chorioretinal atrophy
OMIM:613750	ARL2BP	23568	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613750	ARL2BP	23568	HP:0000550	Undetectable electroretinogram
OMIM:613750	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:613750	NR2E3	10002	HP:0040049	Macular edema
OMIM:613750	NR2E3	10002	HP:0000505	Visual impairment
OMIM:613750	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613750	NR2E3	10002	HP:0000533	Chorioretinal atrophy
OMIM:613750	NR2E3	10002	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613750	NR2E3	10002	HP:0000550	Undetectable electroretinogram
OMIM:613750	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:613750	EYS	346007	HP:0040049	Macular edema
OMIM:613750	EYS	346007	HP:0000505	Visual impairment
OMIM:613750	EYS	346007	HP:0000662	Nyctalopia
OMIM:613750	EYS	346007	HP:0000533	Chorioretinal atrophy
OMIM:613750	EYS	346007	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613750	EYS	346007	HP:0000550	Undetectable electroretinogram
OMIM:613750	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:613750	MAK	4117	HP:0040049	Macular edema
OMIM:613750	MAK	4117	HP:0000505	Visual impairment
OMIM:613750	MAK	4117	HP:0000662	Nyctalopia
OMIM:613750	MAK	4117	HP:0000533	Chorioretinal atrophy
OMIM:613750	MAK	4117	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613750	MAK	4117	HP:0000550	Undetectable electroretinogram
OMIM:613750	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:613750	SAG	6295	HP:0040049	Macular edema
OMIM:613750	SAG	6295	HP:0000505	Visual impairment
OMIM:613750	SAG	6295	HP:0000662	Nyctalopia
OMIM:613750	SAG	6295	HP:0000533	Chorioretinal atrophy
OMIM:613750	SAG	6295	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613750	SAG	6295	HP:0000550	Undetectable electroretinogram
OMIM:613750	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:613750	ABCA4	24	HP:0040049	Macular edema
OMIM:613750	ABCA4	24	HP:0000505	Visual impairment
OMIM:613750	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613750	ABCA4	24	HP:0000533	Chorioretinal atrophy
OMIM:613750	ABCA4	24	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613750	ABCA4	24	HP:0000550	Undetectable electroretinogram
OMIM:613750	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:613750	PDE6A	5145	HP:0040049	Macular edema
OMIM:613750	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613750	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613750	PDE6A	5145	HP:0000533	Chorioretinal atrophy
OMIM:613750	PDE6A	5145	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613750	PDE6A	5145	HP:0000550	Undetectable electroretinogram
OMIM:613750	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:613750	PDE6G	5148	HP:0040049	Macular edema
OMIM:613750	PDE6G	5148	HP:0000505	Visual impairment
OMIM:613750	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613750	PDE6G	5148	HP:0000533	Chorioretinal atrophy
OMIM:613750	PDE6G	5148	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613750	PDE6G	5148	HP:0000550	Undetectable electroretinogram
OMIM:613750	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:613750	IMPDH1	3614	HP:0040049	Macular edema
OMIM:613750	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613750	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613750	IMPDH1	3614	HP:0000533	Chorioretinal atrophy
OMIM:613750	IMPDH1	3614	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613750	IMPDH1	3614	HP:0000550	Undetectable electroretinogram
OMIM:613750	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:613750	OFD1	8481	HP:0040049	Macular edema
OMIM:613750	OFD1	8481	HP:0000505	Visual impairment
OMIM:613750	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613750	OFD1	8481	HP:0000533	Chorioretinal atrophy
OMIM:613750	OFD1	8481	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613750	OFD1	8481	HP:0000550	Undetectable electroretinogram
OMIM:613750	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:613750	GUCA1B	2979	HP:0040049	Macular edema
OMIM:613750	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613750	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613750	GUCA1B	2979	HP:0000533	Chorioretinal atrophy
OMIM:613750	GUCA1B	2979	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613750	GUCA1B	2979	HP:0000550	Undetectable electroretinogram
OMIM:613750	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:613750	NRL	4901	HP:0040049	Macular edema
OMIM:613750	NRL	4901	HP:0000505	Visual impairment
OMIM:613750	NRL	4901	HP:0000662	Nyctalopia
OMIM:613750	NRL	4901	HP:0000533	Chorioretinal atrophy
OMIM:613750	NRL	4901	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613750	NRL	4901	HP:0000550	Undetectable electroretinogram
OMIM:613750	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:613750	PDE6B	5158	HP:0040049	Macular edema
OMIM:613750	PDE6B	5158	HP:0000505	Visual impairment
OMIM:613750	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613750	PDE6B	5158	HP:0000533	Chorioretinal atrophy
OMIM:613750	PDE6B	5158	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613750	PDE6B	5158	HP:0000550	Undetectable electroretinogram
OMIM:613750	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:613750	KLHL7	55975	HP:0040049	Macular edema
OMIM:613750	KLHL7	55975	HP:0000505	Visual impairment
OMIM:613750	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613750	KLHL7	55975	HP:0000533	Chorioretinal atrophy
OMIM:613750	KLHL7	55975	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613750	KLHL7	55975	HP:0000550	Undetectable electroretinogram
OMIM:613750	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:613750	PRPF4	9128	HP:0040049	Macular edema
OMIM:613750	PRPF4	9128	HP:0000505	Visual impairment
OMIM:613750	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613750	PRPF4	9128	HP:0000533	Chorioretinal atrophy
OMIM:613750	PRPF4	9128	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613750	PRPF4	9128	HP:0000550	Undetectable electroretinogram
OMIM:613750	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:613750	PRPF3	9129	HP:0040049	Macular edema
OMIM:613750	PRPF3	9129	HP:0000505	Visual impairment
OMIM:613750	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613750	PRPF3	9129	HP:0000533	Chorioretinal atrophy
OMIM:613750	PRPF3	9129	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613750	PRPF3	9129	HP:0000550	Undetectable electroretinogram
OMIM:613750	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:613750	FAM161A	84140	HP:0040049	Macular edema
OMIM:613750	FAM161A	84140	HP:0000505	Visual impairment
OMIM:613750	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613750	FAM161A	84140	HP:0000533	Chorioretinal atrophy
OMIM:613750	FAM161A	84140	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613750	FAM161A	84140	HP:0000550	Undetectable electroretinogram
OMIM:613750	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:613750	IFT172	26160	HP:0040049	Macular edema
OMIM:613750	IFT172	26160	HP:0000505	Visual impairment
OMIM:613750	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613750	IFT172	26160	HP:0000533	Chorioretinal atrophy
OMIM:613750	IFT172	26160	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613750	IFT172	26160	HP:0000550	Undetectable electroretinogram
OMIM:613750	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:613750	KIZ	55857	HP:0040049	Macular edema
OMIM:613750	KIZ	55857	HP:0000505	Visual impairment
OMIM:613750	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613750	KIZ	55857	HP:0000533	Chorioretinal atrophy
OMIM:613750	KIZ	55857	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613750	KIZ	55857	HP:0000550	Undetectable electroretinogram
OMIM:613750	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:613750	CDHR1	92211	HP:0040049	Macular edema
OMIM:613750	CDHR1	92211	HP:0000505	Visual impairment
OMIM:613750	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613750	CDHR1	92211	HP:0000533	Chorioretinal atrophy
OMIM:613750	CDHR1	92211	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613750	CDHR1	92211	HP:0000550	Undetectable electroretinogram
OMIM:613750	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:613750	ZNF408	79797	HP:0040049	Macular edema
OMIM:613750	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613750	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613750	ZNF408	79797	HP:0000533	Chorioretinal atrophy
OMIM:613750	ZNF408	79797	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613750	ZNF408	79797	HP:0000550	Undetectable electroretinogram
OMIM:613750	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:613750	RBP3	5949	HP:0040049	Macular edema
OMIM:613750	RBP3	5949	HP:0000505	Visual impairment
OMIM:613750	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613750	RBP3	5949	HP:0000533	Chorioretinal atrophy
OMIM:613750	RBP3	5949	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613750	RBP3	5949	HP:0000550	Undetectable electroretinogram
OMIM:613750	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:613750	HGSNAT	138050	HP:0040049	Macular edema
OMIM:613750	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:613750	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613750	HGSNAT	138050	HP:0000533	Chorioretinal atrophy
OMIM:613750	HGSNAT	138050	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613750	HGSNAT	138050	HP:0000550	Undetectable electroretinogram
OMIM:613750	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:613750	FSCN2	25794	HP:0040049	Macular edema
OMIM:613750	FSCN2	25794	HP:0000505	Visual impairment
OMIM:613750	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613750	FSCN2	25794	HP:0000533	Chorioretinal atrophy
OMIM:613750	FSCN2	25794	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613750	FSCN2	25794	HP:0000550	Undetectable electroretinogram
OMIM:613750	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:613750	PRCD	768206	HP:0040049	Macular edema
OMIM:613750	PRCD	768206	HP:0000505	Visual impairment
OMIM:613750	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613750	PRCD	768206	HP:0000533	Chorioretinal atrophy
OMIM:613750	PRCD	768206	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613750	PRCD	768206	HP:0000550	Undetectable electroretinogram
OMIM:613750	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:613750	BBS2	583	HP:0040049	Macular edema
OMIM:613750	BBS2	583	HP:0000505	Visual impairment
OMIM:613750	BBS2	583	HP:0000662	Nyctalopia
OMIM:613750	BBS2	583	HP:0000533	Chorioretinal atrophy
OMIM:613750	BBS2	583	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613750	BBS2	583	HP:0000550	Undetectable electroretinogram
OMIM:613750	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:613750	RDH12	145226	HP:0040049	Macular edema
OMIM:613750	RDH12	145226	HP:0000505	Visual impairment
OMIM:613750	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613750	RDH12	145226	HP:0000533	Chorioretinal atrophy
OMIM:613750	RDH12	145226	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613750	RDH12	145226	HP:0000550	Undetectable electroretinogram
OMIM:613750	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:613750	PRPH2	5961	HP:0040049	Macular edema
OMIM:613750	PRPH2	5961	HP:0000505	Visual impairment
OMIM:613750	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613750	PRPH2	5961	HP:0000533	Chorioretinal atrophy
OMIM:613750	PRPH2	5961	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613750	PRPH2	5961	HP:0000550	Undetectable electroretinogram
OMIM:613750	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:613750	DHDDS	79947	HP:0040049	Macular edema
OMIM:613750	DHDDS	79947	HP:0000505	Visual impairment
OMIM:613750	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613750	DHDDS	79947	HP:0000533	Chorioretinal atrophy
OMIM:613750	DHDDS	79947	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613750	DHDDS	79947	HP:0000550	Undetectable electroretinogram
OMIM:613750	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:613750	ROM1	6094	HP:0040049	Macular edema
OMIM:613750	ROM1	6094	HP:0000505	Visual impairment
OMIM:613750	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613750	ROM1	6094	HP:0000533	Chorioretinal atrophy
OMIM:613750	ROM1	6094	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613750	ROM1	6094	HP:0000550	Undetectable electroretinogram
OMIM:613750	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:613750	C2ORF71	388939	HP:0040049	Macular edema
OMIM:613750	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613750	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613750	C2ORF71	388939	HP:0000533	Chorioretinal atrophy
OMIM:613750	C2ORF71	388939	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613750	C2ORF71	388939	HP:0000550	Undetectable electroretinogram
OMIM:613750	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:613750	RP9	6100	HP:0040049	Macular edema
OMIM:613750	RP9	6100	HP:0000505	Visual impairment
OMIM:613750	RP9	6100	HP:0000662	Nyctalopia
OMIM:613750	RP9	6100	HP:0000533	Chorioretinal atrophy
OMIM:613750	RP9	6100	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613750	RP9	6100	HP:0000550	Undetectable electroretinogram
OMIM:613750	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:613750	PRPF6	24148	HP:0040049	Macular edema
OMIM:613750	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613750	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613750	PRPF6	24148	HP:0000533	Chorioretinal atrophy
OMIM:613750	PRPF6	24148	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613750	PRPF6	24148	HP:0000550	Undetectable electroretinogram
OMIM:613750	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:613750	RP1	6101	HP:0040049	Macular edema
OMIM:613750	RP1	6101	HP:0000505	Visual impairment
OMIM:613750	RP1	6101	HP:0000662	Nyctalopia
OMIM:613750	RP1	6101	HP:0000533	Chorioretinal atrophy
OMIM:613750	RP1	6101	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613750	RP1	6101	HP:0000550	Undetectable electroretinogram
OMIM:613750	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:613750	RP2	6102	HP:0040049	Macular edema
OMIM:613750	RP2	6102	HP:0000505	Visual impairment
OMIM:613750	RP2	6102	HP:0000662	Nyctalopia
OMIM:613750	RP2	6102	HP:0000533	Chorioretinal atrophy
OMIM:613750	RP2	6102	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613750	RP2	6102	HP:0000550	Undetectable electroretinogram
OMIM:613750	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:613750	RPGR	6103	HP:0040049	Macular edema
OMIM:613750	RPGR	6103	HP:0000505	Visual impairment
OMIM:613750	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613750	RPGR	6103	HP:0000533	Chorioretinal atrophy
OMIM:613750	RPGR	6103	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613750	RPGR	6103	HP:0000550	Undetectable electroretinogram
OMIM:613750	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:613750	SEMA4A	64218	HP:0040049	Macular edema
OMIM:613750	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:613750	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613750	SEMA4A	64218	HP:0000533	Chorioretinal atrophy
OMIM:613750	SEMA4A	64218	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613750	SEMA4A	64218	HP:0000550	Undetectable electroretinogram
OMIM:613750	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:613750	C8ORF37	157657	HP:0040049	Macular edema
OMIM:613750	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:613750	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613750	C8ORF37	157657	HP:0000533	Chorioretinal atrophy
OMIM:613750	C8ORF37	157657	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613750	C8ORF37	157657	HP:0000550	Undetectable electroretinogram
OMIM:613750	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:613750	IDH3B	3420	HP:0040049	Macular edema
OMIM:613750	IDH3B	3420	HP:0000505	Visual impairment
OMIM:613750	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613750	IDH3B	3420	HP:0000533	Chorioretinal atrophy
OMIM:613750	IDH3B	3420	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613750	IDH3B	3420	HP:0000550	Undetectable electroretinogram
OMIM:613750	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:613750	MERTK	10461	HP:0040049	Macular edema
OMIM:613750	MERTK	10461	HP:0000505	Visual impairment
OMIM:613750	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613750	MERTK	10461	HP:0000533	Chorioretinal atrophy
OMIM:613750	MERTK	10461	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613750	MERTK	10461	HP:0000550	Undetectable electroretinogram
OMIM:613750	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:613750	PRPF8	10594	HP:0040049	Macular edema
OMIM:613750	PRPF8	10594	HP:0000505	Visual impairment
OMIM:613750	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613750	PRPF8	10594	HP:0000533	Chorioretinal atrophy
OMIM:613750	PRPF8	10594	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613750	PRPF8	10594	HP:0000550	Undetectable electroretinogram
OMIM:613750	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:613750	TOPORS	10210	HP:0040049	Macular edema
OMIM:613750	TOPORS	10210	HP:0000505	Visual impairment
OMIM:613750	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613750	TOPORS	10210	HP:0000533	Chorioretinal atrophy
OMIM:613750	TOPORS	10210	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613750	TOPORS	10210	HP:0000550	Undetectable electroretinogram
OMIM:613750	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:613750	USH2A	7399	HP:0040049	Macular edema
OMIM:613750	USH2A	7399	HP:0000505	Visual impairment
OMIM:613750	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613750	USH2A	7399	HP:0000533	Chorioretinal atrophy
OMIM:613750	USH2A	7399	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613750	USH2A	7399	HP:0000550	Undetectable electroretinogram
OMIM:613750	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:613750	RPE65	6121	HP:0040049	Macular edema
OMIM:613750	RPE65	6121	HP:0000505	Visual impairment
OMIM:613750	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613750	RPE65	6121	HP:0000533	Chorioretinal atrophy
OMIM:613750	RPE65	6121	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613750	RPE65	6121	HP:0000550	Undetectable electroretinogram
OMIM:613750	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:613750	CLRN1	7401	HP:0040049	Macular edema
OMIM:613750	CLRN1	7401	HP:0000505	Visual impairment
OMIM:613750	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613750	CLRN1	7401	HP:0000533	Chorioretinal atrophy
OMIM:613750	CLRN1	7401	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613750	CLRN1	7401	HP:0000550	Undetectable electroretinogram
OMIM:613750	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:613750	CNGB1	1258	HP:0040049	Macular edema
OMIM:613750	CNGB1	1258	HP:0000505	Visual impairment
OMIM:613750	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613750	CNGB1	1258	HP:0000533	Chorioretinal atrophy
OMIM:613750	CNGB1	1258	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613750	CNGB1	1258	HP:0000550	Undetectable electroretinogram
OMIM:613750	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:613750	RGR	5995	HP:0040049	Macular edema
OMIM:613750	RGR	5995	HP:0000505	Visual impairment
OMIM:613750	RGR	5995	HP:0000662	Nyctalopia
OMIM:613750	RGR	5995	HP:0000533	Chorioretinal atrophy
OMIM:613750	RGR	5995	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613750	RGR	5995	HP:0000550	Undetectable electroretinogram
OMIM:613750	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:613750	CNGA1	1259	HP:0040049	Macular edema
OMIM:613750	CNGA1	1259	HP:0000505	Visual impairment
OMIM:613750	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613750	CNGA1	1259	HP:0000533	Chorioretinal atrophy
OMIM:613750	CNGA1	1259	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613750	CNGA1	1259	HP:0000550	Undetectable electroretinogram
OMIM:613750	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:613750	TUB	7275	HP:0040049	Macular edema
OMIM:613750	TUB	7275	HP:0000505	Visual impairment
OMIM:613750	TUB	7275	HP:0000662	Nyctalopia
OMIM:613750	TUB	7275	HP:0000533	Chorioretinal atrophy
OMIM:613750	TUB	7275	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613750	TUB	7275	HP:0000550	Undetectable electroretinogram
OMIM:613750	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:613750	SNRNP200	23020	HP:0040049	Macular edema
OMIM:613750	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:613750	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613750	SNRNP200	23020	HP:0000533	Chorioretinal atrophy
OMIM:613750	SNRNP200	23020	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613750	SNRNP200	23020	HP:0000550	Undetectable electroretinogram
OMIM:613750	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:613750	SLC7A14	57709	HP:0040049	Macular edema
OMIM:613750	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:613750	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613750	SLC7A14	57709	HP:0000533	Chorioretinal atrophy
OMIM:613750	SLC7A14	57709	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613750	SLC7A14	57709	HP:0000550	Undetectable electroretinogram
OMIM:613750	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:613750	TULP1	7287	HP:0040049	Macular edema
OMIM:613750	TULP1	7287	HP:0000505	Visual impairment
OMIM:613750	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613750	TULP1	7287	HP:0000533	Chorioretinal atrophy
OMIM:613750	TULP1	7287	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613750	TULP1	7287	HP:0000550	Undetectable electroretinogram
OMIM:613750	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:613750	RHO	6010	HP:0040049	Macular edema
OMIM:613750	RHO	6010	HP:0000505	Visual impairment
OMIM:613750	RHO	6010	HP:0000662	Nyctalopia
OMIM:613750	RHO	6010	HP:0000533	Chorioretinal atrophy
OMIM:613750	RHO	6010	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613750	RHO	6010	HP:0000550	Undetectable electroretinogram
OMIM:613750	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:613750	CA4	762	HP:0040049	Macular edema
OMIM:613750	CA4	762	HP:0000505	Visual impairment
OMIM:613750	CA4	762	HP:0000662	Nyctalopia
OMIM:613750	CA4	762	HP:0000533	Chorioretinal atrophy
OMIM:613750	CA4	762	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613750	CA4	762	HP:0000550	Undetectable electroretinogram
OMIM:613750	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:613750	CRB1	23418	HP:0040049	Macular edema
OMIM:613750	CRB1	23418	HP:0000505	Visual impairment
OMIM:613750	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613750	CRB1	23418	HP:0000533	Chorioretinal atrophy
OMIM:613750	CRB1	23418	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613750	CRB1	23418	HP:0000550	Undetectable electroretinogram
OMIM:613750	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:613750	IMPG2	50939	HP:0040049	Macular edema
OMIM:613750	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613750	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613750	IMPG2	50939	HP:0000533	Chorioretinal atrophy
OMIM:613750	IMPG2	50939	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613750	IMPG2	50939	HP:0000550	Undetectable electroretinogram
OMIM:613750	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:613750	ZNF513	130557	HP:0040049	Macular edema
OMIM:613750	ZNF513	130557	HP:0000505	Visual impairment
OMIM:613750	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613750	ZNF513	130557	HP:0000533	Chorioretinal atrophy
OMIM:613750	ZNF513	130557	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613750	ZNF513	130557	HP:0000550	Undetectable electroretinogram
OMIM:613750	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:613750	CRX	1406	HP:0040049	Macular edema
OMIM:613750	CRX	1406	HP:0000505	Visual impairment
OMIM:613750	CRX	1406	HP:0000662	Nyctalopia
OMIM:613750	CRX	1406	HP:0000533	Chorioretinal atrophy
OMIM:613750	CRX	1406	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:613750	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613750	CRX	1406	HP:0000550	Undetectable electroretinogram
OMIM:613750	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:123450	SEMA5A	9037	HP:0000023	Inguinal hernia
OMIM:123450	SEMA5A	9037	HP:0000494	Downslanted palpebral fissures
OMIM:123450	SEMA5A	9037	HP:0000402	Stenosis of the external auditory canal
OMIM:123450	SEMA5A	9037	HP:0000202	Oral cleft
OMIM:123450	SEMA5A	9037	HP:0010743	Short metatarsal
OMIM:123450	SEMA5A	9037	HP:0004279	Short palm
OMIM:123450	SEMA5A	9037	HP:0000218	High palate
OMIM:123450	SEMA5A	9037	HP:0000717	Autism
OMIM:123450	SEMA5A	9037	HP:0000648	Optic atrophy
OMIM:123450	SEMA5A	9037	HP:0004322	Short stature
OMIM:123450	SEMA5A	9037	HP:0000252	Microcephaly
OMIM:123450	SEMA5A	9037	HP:0002216	Premature graying of hair
OMIM:123450	SEMA5A	9037	HP:0000954	Single transverse palmar crease
OMIM:123450	SEMA5A	9037	HP:0004299	Hernia of the abdominal wall
OMIM:123450	SEMA5A	9037	HP:0002650	Scoliosis
OMIM:123450	SEMA5A	9037	HP:0001319	Neonatal hypotonia
OMIM:123450	SEMA5A	9037	HP:0000275	Narrow face
OMIM:123450	SEMA5A	9037	HP:0002355	Difficulty walking
OMIM:123450	SEMA5A	9037	HP:0000311	Round face
OMIM:123450	SEMA5A	9037	HP:0001276	Hypertonia
OMIM:123450	SEMA5A	9037	HP:0001252	Muscular hypotonia
OMIM:123450	SEMA5A	9037	HP:0001840	Metatarsus adductus
OMIM:123450	SEMA5A	9037	HP:0000316	Hypertelorism
OMIM:123450	SEMA5A	9037	HP:0000750	Delayed speech and language development
OMIM:123450	SEMA5A	9037	HP:0100543	Cognitive impairment
OMIM:123450	SEMA5A	9037	HP:0000193	Bifid uvula
OMIM:123450	SEMA5A	9037	HP:0001510	Growth delay
OMIM:123450	SEMA5A	9037	HP:0002757	Recurrent fractures
OMIM:123450	SEMA5A	9037	HP:0001159	Syndactyly
OMIM:123450	SEMA5A	9037	HP:0001382	Joint hypermobility
OMIM:123450	SEMA5A	9037	HP:0000028	Cryptorchidism
OMIM:123450	SEMA5A	9037	HP:0001249	Intellectual disability
OMIM:123450	SEMA5A	9037	HP:0001608	Abnormality of the voice
OMIM:123450	SEMA5A	9037	HP:0000276	Long face
OMIM:123450	SEMA5A	9037	HP:0002714	Downturned corners of mouth
OMIM:123450	SEMA5A	9037	HP:0000431	Wide nasal bridge
OMIM:123450	SEMA5A	9037	HP:0000047	Hypospadias
OMIM:123450	SEMA5A	9037	HP:0000742	Self-mutilation
OMIM:123450	SEMA5A	9037	HP:0000347	Micrognathia
OMIM:123450	SEMA5A	9037	HP:0002020	Gastroesophageal reflux
OMIM:123450	SEMA5A	9037	HP:0000286	Epicanthus
OMIM:123450	SEMA5A	9037	HP:0000368	Low-set, posteriorly rotated ears
OMIM:123450	SEMA5A	9037	HP:0000384	Preauricular skin tag
OMIM:123450	SEMA5A	9037	HP:0001511	Intrauterine growth retardation
OMIM:123450	SEMA5A	9037	HP:0003745	Sporadic
OMIM:123450	SEMA5A	9037	HP:0010049	Short metacarpal
OMIM:123450	SEMA5A	9037	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:123450	SEMA5A	9037	HP:0000322	Short philtrum
OMIM:123450	SEMA5A	9037	HP:0002916	Abnormality of chromosome segregation
OMIM:123450	SEMA5A	9037	HP:0000752	Hyperactivity
OMIM:123450	SEMA5A	9037	HP:0000365	Hearing impairment
OMIM:123450	SEMA5A	9037	HP:0000733	Stereotypic behavior
OMIM:123450	SEMA5A	9037	HP:0000470	Short neck
OMIM:123450	SEMA5A	9037	HP:0000518	Cataract
OMIM:123450	SEMA5A	9037	HP:0000336	Prominent supraorbital ridges
OMIM:123450	SEMA5A	9037	HP:0006101	Finger syndactyly
OMIM:123450	SEMA5A	9037	HP:0000077	Abnormality of the kidney
OMIM:123450	SEMA5A	9037	HP:0000718	Aggressive behavior
OMIM:123450	SEMA5A	9037	HP:0008872	Feeding difficulties in infancy
OMIM:123450	SEMA5A	9037	HP:0000739	Anxiety
OMIM:123450	SEMA5A	9037	HP:0010780	Hyperacusis
OMIM:123450	SEMA5A	9037	HP:0000377	Abnormality of the pinna
OMIM:123450	SEMA5A	9037	HP:0000545	Myopia
OMIM:123450	SEMA5A	9037	HP:0000369	Low-set ears
OMIM:123450	SEMA5A	9037	HP:0000179	Thick lower lip vermilion
OMIM:123450	SEMA5A	9037	HP:0000736	Short attention span
OMIM:123450	SEMA5A	9037	HP:0000308	Microretrognathia
OMIM:123450	SEMA5A	9037	HP:0001763	Pes planus
OMIM:123450	SEMA5A	9037	HP:0004348	Abnormality of bone mineral density
OMIM:123450	SEMA5A	9037	HP:0000486	Strabismus
OMIM:123450	SEMA5A	9037	HP:0000324	Facial asymmetry
OMIM:123450	SEMA5A	9037	HP:0002795	Functional respiratory abnormality
OMIM:123450	SEMA5A	9037	HP:0001518	Small for gestational age
OMIM:123450	SEMA5A	9037	HP:0000174	Abnormality of the palate
OMIM:123450	CTNND2	1501	HP:0000023	Inguinal hernia
OMIM:123450	CTNND2	1501	HP:0000494	Downslanted palpebral fissures
OMIM:123450	CTNND2	1501	HP:0000402	Stenosis of the external auditory canal
OMIM:123450	CTNND2	1501	HP:0000202	Oral cleft
OMIM:123450	CTNND2	1501	HP:0010743	Short metatarsal
OMIM:123450	CTNND2	1501	HP:0004279	Short palm
OMIM:123450	CTNND2	1501	HP:0000218	High palate
OMIM:123450	CTNND2	1501	HP:0000717	Autism
OMIM:123450	CTNND2	1501	HP:0000648	Optic atrophy
OMIM:123450	CTNND2	1501	HP:0004322	Short stature
OMIM:123450	CTNND2	1501	HP:0000252	Microcephaly
OMIM:123450	CTNND2	1501	HP:0002216	Premature graying of hair
OMIM:123450	CTNND2	1501	HP:0000954	Single transverse palmar crease
OMIM:123450	CTNND2	1501	HP:0004299	Hernia of the abdominal wall
OMIM:123450	CTNND2	1501	HP:0002650	Scoliosis
OMIM:123450	CTNND2	1501	HP:0001319	Neonatal hypotonia
OMIM:123450	CTNND2	1501	HP:0000275	Narrow face
OMIM:123450	CTNND2	1501	HP:0002355	Difficulty walking
OMIM:123450	CTNND2	1501	HP:0000311	Round face
OMIM:123450	CTNND2	1501	HP:0001276	Hypertonia
OMIM:123450	CTNND2	1501	HP:0001252	Muscular hypotonia
OMIM:123450	CTNND2	1501	HP:0001840	Metatarsus adductus
OMIM:123450	CTNND2	1501	HP:0000316	Hypertelorism
OMIM:123450	CTNND2	1501	HP:0000750	Delayed speech and language development
OMIM:123450	CTNND2	1501	HP:0100543	Cognitive impairment
OMIM:123450	CTNND2	1501	HP:0000193	Bifid uvula
OMIM:123450	CTNND2	1501	HP:0001510	Growth delay
OMIM:123450	CTNND2	1501	HP:0002757	Recurrent fractures
OMIM:123450	CTNND2	1501	HP:0001159	Syndactyly
OMIM:123450	CTNND2	1501	HP:0001382	Joint hypermobility
OMIM:123450	CTNND2	1501	HP:0000028	Cryptorchidism
OMIM:123450	CTNND2	1501	HP:0001249	Intellectual disability
OMIM:123450	CTNND2	1501	HP:0001608	Abnormality of the voice
OMIM:123450	CTNND2	1501	HP:0000276	Long face
OMIM:123450	CTNND2	1501	HP:0002714	Downturned corners of mouth
OMIM:123450	CTNND2	1501	HP:0000431	Wide nasal bridge
OMIM:123450	CTNND2	1501	HP:0000047	Hypospadias
OMIM:123450	CTNND2	1501	HP:0000742	Self-mutilation
OMIM:123450	CTNND2	1501	HP:0000347	Micrognathia
OMIM:123450	CTNND2	1501	HP:0002020	Gastroesophageal reflux
OMIM:123450	CTNND2	1501	HP:0000286	Epicanthus
OMIM:123450	CTNND2	1501	HP:0000368	Low-set, posteriorly rotated ears
OMIM:123450	CTNND2	1501	HP:0000384	Preauricular skin tag
OMIM:123450	CTNND2	1501	HP:0001511	Intrauterine growth retardation
OMIM:123450	CTNND2	1501	HP:0003745	Sporadic
OMIM:123450	CTNND2	1501	HP:0010049	Short metacarpal
OMIM:123450	CTNND2	1501	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:123450	CTNND2	1501	HP:0000322	Short philtrum
OMIM:123450	CTNND2	1501	HP:0002916	Abnormality of chromosome segregation
OMIM:123450	CTNND2	1501	HP:0000752	Hyperactivity
OMIM:123450	CTNND2	1501	HP:0000365	Hearing impairment
OMIM:123450	CTNND2	1501	HP:0000733	Stereotypic behavior
OMIM:123450	CTNND2	1501	HP:0000470	Short neck
OMIM:123450	CTNND2	1501	HP:0000518	Cataract
OMIM:123450	CTNND2	1501	HP:0000336	Prominent supraorbital ridges
OMIM:123450	CTNND2	1501	HP:0006101	Finger syndactyly
OMIM:123450	CTNND2	1501	HP:0000077	Abnormality of the kidney
OMIM:123450	CTNND2	1501	HP:0000718	Aggressive behavior
OMIM:123450	CTNND2	1501	HP:0008872	Feeding difficulties in infancy
OMIM:123450	CTNND2	1501	HP:0000739	Anxiety
OMIM:123450	CTNND2	1501	HP:0010780	Hyperacusis
OMIM:123450	CTNND2	1501	HP:0000377	Abnormality of the pinna
OMIM:123450	CTNND2	1501	HP:0000545	Myopia
OMIM:123450	CTNND2	1501	HP:0000369	Low-set ears
OMIM:123450	CTNND2	1501	HP:0000179	Thick lower lip vermilion
OMIM:123450	CTNND2	1501	HP:0000736	Short attention span
OMIM:123450	CTNND2	1501	HP:0000308	Microretrognathia
OMIM:123450	CTNND2	1501	HP:0001763	Pes planus
OMIM:123450	CTNND2	1501	HP:0004348	Abnormality of bone mineral density
OMIM:123450	CTNND2	1501	HP:0000486	Strabismus
OMIM:123450	CTNND2	1501	HP:0000324	Facial asymmetry
OMIM:123450	CTNND2	1501	HP:0002795	Functional respiratory abnormality
OMIM:123450	CTNND2	1501	HP:0001518	Small for gestational age
OMIM:123450	CTNND2	1501	HP:0000174	Abnormality of the palate
OMIM:611134	B9D1	27077	HP:0000107	Renal cyst
OMIM:611134	B9D1	27077	HP:0001162	Postaxial hand polydactyly
OMIM:611134	B9D1	27077	HP:0002084	Encephalocele
OMIM:611134	B9D1	27077	HP:0001408	Bile duct proliferation
OMIM:611134	B9D1	27077	HP:0001629	Ventricular septal defect
OMIM:611134	B9D1	27077	HP:0006487	Bowing of the long bones
OMIM:611134	B9D1	27077	HP:0000252	Microcephaly
OMIM:611134	B9D1	27077	HP:0000238	Hydrocephalus
OMIM:611134	B9D1	27077	HP:0001305	Dandy-Walker malformation
OMIM:611134	B9D1	27077	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	B9D1	27077	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	B9D1	27077	HP:0000175	Cleft palate
OMIM:611134	B9D1	27077	HP:0001511	Intrauterine growth retardation
OMIM:611134	B9D1	27077	HP:0002419	Molar tooth sign on MRI
OMIM:611134	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:611134	B9D1	27077	HP:0002323	Anencephaly
OMIM:611134	B9D1	27077	HP:0000568	Microphthalmia
OMIM:611134	B9D1	27077	HP:0001631	Atria septal defect
OMIM:611134	RPGRIP1	57096	HP:0000107	Renal cyst
OMIM:611134	RPGRIP1	57096	HP:0001162	Postaxial hand polydactyly
OMIM:611134	RPGRIP1	57096	HP:0002084	Encephalocele
OMIM:611134	RPGRIP1	57096	HP:0001408	Bile duct proliferation
OMIM:611134	RPGRIP1	57096	HP:0001629	Ventricular septal defect
OMIM:611134	RPGRIP1	57096	HP:0006487	Bowing of the long bones
OMIM:611134	RPGRIP1	57096	HP:0000252	Microcephaly
OMIM:611134	RPGRIP1	57096	HP:0000238	Hydrocephalus
OMIM:611134	RPGRIP1	57096	HP:0001305	Dandy-Walker malformation
OMIM:611134	RPGRIP1	57096	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	RPGRIP1	57096	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	RPGRIP1	57096	HP:0000175	Cleft palate
OMIM:611134	RPGRIP1	57096	HP:0001511	Intrauterine growth retardation
OMIM:611134	RPGRIP1	57096	HP:0002419	Molar tooth sign on MRI
OMIM:611134	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:611134	RPGRIP1	57096	HP:0002323	Anencephaly
OMIM:611134	RPGRIP1	57096	HP:0000568	Microphthalmia
OMIM:611134	RPGRIP1	57096	HP:0001631	Atria septal defect
OMIM:611134	CC2D2A	57545	HP:0000107	Renal cyst
OMIM:611134	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:611134	CC2D2A	57545	HP:0002084	Encephalocele
OMIM:611134	CC2D2A	57545	HP:0001408	Bile duct proliferation
OMIM:611134	CC2D2A	57545	HP:0001629	Ventricular septal defect
OMIM:611134	CC2D2A	57545	HP:0006487	Bowing of the long bones
OMIM:611134	CC2D2A	57545	HP:0000252	Microcephaly
OMIM:611134	CC2D2A	57545	HP:0000238	Hydrocephalus
OMIM:611134	CC2D2A	57545	HP:0001305	Dandy-Walker malformation
OMIM:611134	CC2D2A	57545	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	CC2D2A	57545	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	CC2D2A	57545	HP:0000175	Cleft palate
OMIM:611134	CC2D2A	57545	HP:0001511	Intrauterine growth retardation
OMIM:611134	CC2D2A	57545	HP:0002419	Molar tooth sign on MRI
OMIM:611134	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:611134	CC2D2A	57545	HP:0002323	Anencephaly
OMIM:611134	CC2D2A	57545	HP:0000568	Microphthalmia
OMIM:611134	CC2D2A	57545	HP:0001631	Atria septal defect
OMIM:611134	B9D2	80776	HP:0000107	Renal cyst
OMIM:611134	B9D2	80776	HP:0001162	Postaxial hand polydactyly
OMIM:611134	B9D2	80776	HP:0002084	Encephalocele
OMIM:611134	B9D2	80776	HP:0001408	Bile duct proliferation
OMIM:611134	B9D2	80776	HP:0001629	Ventricular septal defect
OMIM:611134	B9D2	80776	HP:0006487	Bowing of the long bones
OMIM:611134	B9D2	80776	HP:0000252	Microcephaly
OMIM:611134	B9D2	80776	HP:0000238	Hydrocephalus
OMIM:611134	B9D2	80776	HP:0001305	Dandy-Walker malformation
OMIM:611134	B9D2	80776	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	B9D2	80776	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	B9D2	80776	HP:0000175	Cleft palate
OMIM:611134	B9D2	80776	HP:0001511	Intrauterine growth retardation
OMIM:611134	B9D2	80776	HP:0002419	Molar tooth sign on MRI
OMIM:611134	B9D2	80776	HP:0000007	Autosomal recessive inheritance
OMIM:611134	B9D2	80776	HP:0002323	Anencephaly
OMIM:611134	B9D2	80776	HP:0000568	Microphthalmia
OMIM:611134	B9D2	80776	HP:0001631	Atria septal defect
OMIM:611134	CSPP1	79848	HP:0000107	Renal cyst
OMIM:611134	CSPP1	79848	HP:0001162	Postaxial hand polydactyly
OMIM:611134	CSPP1	79848	HP:0002084	Encephalocele
OMIM:611134	CSPP1	79848	HP:0001408	Bile duct proliferation
OMIM:611134	CSPP1	79848	HP:0001629	Ventricular septal defect
OMIM:611134	CSPP1	79848	HP:0006487	Bowing of the long bones
OMIM:611134	CSPP1	79848	HP:0000252	Microcephaly
OMIM:611134	CSPP1	79848	HP:0000238	Hydrocephalus
OMIM:611134	CSPP1	79848	HP:0001305	Dandy-Walker malformation
OMIM:611134	CSPP1	79848	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	CSPP1	79848	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	CSPP1	79848	HP:0000175	Cleft palate
OMIM:611134	CSPP1	79848	HP:0001511	Intrauterine growth retardation
OMIM:611134	CSPP1	79848	HP:0002419	Molar tooth sign on MRI
OMIM:611134	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:611134	CSPP1	79848	HP:0002323	Anencephaly
OMIM:611134	CSPP1	79848	HP:0000568	Microphthalmia
OMIM:611134	CSPP1	79848	HP:0001631	Atria septal defect
OMIM:611134	TMEM67	91147	HP:0000107	Renal cyst
OMIM:611134	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
OMIM:611134	TMEM67	91147	HP:0002084	Encephalocele
OMIM:611134	TMEM67	91147	HP:0001408	Bile duct proliferation
OMIM:611134	TMEM67	91147	HP:0001629	Ventricular septal defect
OMIM:611134	TMEM67	91147	HP:0006487	Bowing of the long bones
OMIM:611134	TMEM67	91147	HP:0000252	Microcephaly
OMIM:611134	TMEM67	91147	HP:0000238	Hydrocephalus
OMIM:611134	TMEM67	91147	HP:0001305	Dandy-Walker malformation
OMIM:611134	TMEM67	91147	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	TMEM67	91147	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	TMEM67	91147	HP:0000175	Cleft palate
OMIM:611134	TMEM67	91147	HP:0001511	Intrauterine growth retardation
OMIM:611134	TMEM67	91147	HP:0002419	Molar tooth sign on MRI
OMIM:611134	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:611134	TMEM67	91147	HP:0002323	Anencephaly
OMIM:611134	TMEM67	91147	HP:0000568	Microphthalmia
OMIM:611134	TMEM67	91147	HP:0001631	Atria septal defect
OMIM:611134	WDPCP	51057	HP:0000107	Renal cyst
OMIM:611134	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
OMIM:611134	WDPCP	51057	HP:0002084	Encephalocele
OMIM:611134	WDPCP	51057	HP:0001408	Bile duct proliferation
OMIM:611134	WDPCP	51057	HP:0001629	Ventricular septal defect
OMIM:611134	WDPCP	51057	HP:0006487	Bowing of the long bones
OMIM:611134	WDPCP	51057	HP:0000252	Microcephaly
OMIM:611134	WDPCP	51057	HP:0000238	Hydrocephalus
OMIM:611134	WDPCP	51057	HP:0001305	Dandy-Walker malformation
OMIM:611134	WDPCP	51057	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	WDPCP	51057	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	WDPCP	51057	HP:0000175	Cleft palate
OMIM:611134	WDPCP	51057	HP:0001511	Intrauterine growth retardation
OMIM:611134	WDPCP	51057	HP:0002419	Molar tooth sign on MRI
OMIM:611134	WDPCP	51057	HP:0000007	Autosomal recessive inheritance
OMIM:611134	WDPCP	51057	HP:0002323	Anencephaly
OMIM:611134	WDPCP	51057	HP:0000568	Microphthalmia
OMIM:611134	WDPCP	51057	HP:0001631	Atria septal defect
OMIM:611134	MKS1	54903	HP:0000107	Renal cyst
OMIM:611134	MKS1	54903	HP:0001162	Postaxial hand polydactyly
OMIM:611134	MKS1	54903	HP:0002084	Encephalocele
OMIM:611134	MKS1	54903	HP:0001408	Bile duct proliferation
OMIM:611134	MKS1	54903	HP:0001629	Ventricular septal defect
OMIM:611134	MKS1	54903	HP:0006487	Bowing of the long bones
OMIM:611134	MKS1	54903	HP:0000252	Microcephaly
OMIM:611134	MKS1	54903	HP:0000238	Hydrocephalus
OMIM:611134	MKS1	54903	HP:0001305	Dandy-Walker malformation
OMIM:611134	MKS1	54903	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	MKS1	54903	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	MKS1	54903	HP:0000175	Cleft palate
OMIM:611134	MKS1	54903	HP:0001511	Intrauterine growth retardation
OMIM:611134	MKS1	54903	HP:0002419	Molar tooth sign on MRI
OMIM:611134	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:611134	MKS1	54903	HP:0002323	Anencephaly
OMIM:611134	MKS1	54903	HP:0000568	Microphthalmia
OMIM:611134	MKS1	54903	HP:0001631	Atria septal defect
OMIM:611134	CEP290	80184	HP:0000107	Renal cyst
OMIM:611134	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:611134	CEP290	80184	HP:0002084	Encephalocele
OMIM:611134	CEP290	80184	HP:0001408	Bile duct proliferation
OMIM:611134	CEP290	80184	HP:0001629	Ventricular septal defect
OMIM:611134	CEP290	80184	HP:0006487	Bowing of the long bones
OMIM:611134	CEP290	80184	HP:0000252	Microcephaly
OMIM:611134	CEP290	80184	HP:0000238	Hydrocephalus
OMIM:611134	CEP290	80184	HP:0001305	Dandy-Walker malformation
OMIM:611134	CEP290	80184	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	CEP290	80184	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	CEP290	80184	HP:0000175	Cleft palate
OMIM:611134	CEP290	80184	HP:0001511	Intrauterine growth retardation
OMIM:611134	CEP290	80184	HP:0002419	Molar tooth sign on MRI
OMIM:611134	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:611134	CEP290	80184	HP:0002323	Anencephaly
OMIM:611134	CEP290	80184	HP:0000568	Microphthalmia
OMIM:611134	CEP290	80184	HP:0001631	Atria septal defect
OMIM:611134	RPGRIP1L	23322	HP:0000107	Renal cyst
OMIM:611134	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
OMIM:611134	RPGRIP1L	23322	HP:0002084	Encephalocele
OMIM:611134	RPGRIP1L	23322	HP:0001408	Bile duct proliferation
OMIM:611134	RPGRIP1L	23322	HP:0001629	Ventricular septal defect
OMIM:611134	RPGRIP1L	23322	HP:0006487	Bowing of the long bones
OMIM:611134	RPGRIP1L	23322	HP:0000252	Microcephaly
OMIM:611134	RPGRIP1L	23322	HP:0000238	Hydrocephalus
OMIM:611134	RPGRIP1L	23322	HP:0001305	Dandy-Walker malformation
OMIM:611134	RPGRIP1L	23322	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	RPGRIP1L	23322	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	RPGRIP1L	23322	HP:0000175	Cleft palate
OMIM:611134	RPGRIP1L	23322	HP:0001511	Intrauterine growth retardation
OMIM:611134	RPGRIP1L	23322	HP:0002419	Molar tooth sign on MRI
OMIM:611134	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:611134	RPGRIP1L	23322	HP:0002323	Anencephaly
OMIM:611134	RPGRIP1L	23322	HP:0000568	Microphthalmia
OMIM:611134	RPGRIP1L	23322	HP:0001631	Atria septal defect
OMIM:611134	TCTN2	79867	HP:0000107	Renal cyst
OMIM:611134	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
OMIM:611134	TCTN2	79867	HP:0002084	Encephalocele
OMIM:611134	TCTN2	79867	HP:0001408	Bile duct proliferation
OMIM:611134	TCTN2	79867	HP:0001629	Ventricular septal defect
OMIM:611134	TCTN2	79867	HP:0006487	Bowing of the long bones
OMIM:611134	TCTN2	79867	HP:0000252	Microcephaly
OMIM:611134	TCTN2	79867	HP:0000238	Hydrocephalus
OMIM:611134	TCTN2	79867	HP:0001305	Dandy-Walker malformation
OMIM:611134	TCTN2	79867	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	TCTN2	79867	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	TCTN2	79867	HP:0000175	Cleft palate
OMIM:611134	TCTN2	79867	HP:0001511	Intrauterine growth retardation
OMIM:611134	TCTN2	79867	HP:0002419	Molar tooth sign on MRI
OMIM:611134	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:611134	TCTN2	79867	HP:0002323	Anencephaly
OMIM:611134	TCTN2	79867	HP:0000568	Microphthalmia
OMIM:611134	TCTN2	79867	HP:0001631	Atria septal defect
OMIM:611134	TMEM216	51259	HP:0000107	Renal cyst
OMIM:611134	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:611134	TMEM216	51259	HP:0002084	Encephalocele
OMIM:611134	TMEM216	51259	HP:0001408	Bile duct proliferation
OMIM:611134	TMEM216	51259	HP:0001629	Ventricular septal defect
OMIM:611134	TMEM216	51259	HP:0006487	Bowing of the long bones
OMIM:611134	TMEM216	51259	HP:0000252	Microcephaly
OMIM:611134	TMEM216	51259	HP:0000238	Hydrocephalus
OMIM:611134	TMEM216	51259	HP:0001305	Dandy-Walker malformation
OMIM:611134	TMEM216	51259	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	TMEM216	51259	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	TMEM216	51259	HP:0000175	Cleft palate
OMIM:611134	TMEM216	51259	HP:0001511	Intrauterine growth retardation
OMIM:611134	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
OMIM:611134	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:611134	TMEM216	51259	HP:0002323	Anencephaly
OMIM:611134	TMEM216	51259	HP:0000568	Microphthalmia
OMIM:611134	TMEM216	51259	HP:0001631	Atria septal defect
OMIM:611134	TMEM231	79583	HP:0000107	Renal cyst
OMIM:611134	TMEM231	79583	HP:0001162	Postaxial hand polydactyly
OMIM:611134	TMEM231	79583	HP:0002084	Encephalocele
OMIM:611134	TMEM231	79583	HP:0001408	Bile duct proliferation
OMIM:611134	TMEM231	79583	HP:0001629	Ventricular septal defect
OMIM:611134	TMEM231	79583	HP:0006487	Bowing of the long bones
OMIM:611134	TMEM231	79583	HP:0000252	Microcephaly
OMIM:611134	TMEM231	79583	HP:0000238	Hydrocephalus
OMIM:611134	TMEM231	79583	HP:0001305	Dandy-Walker malformation
OMIM:611134	TMEM231	79583	HP:0002335	Agenesis of cerebellar vermis
OMIM:611134	TMEM231	79583	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611134	TMEM231	79583	HP:0000175	Cleft palate
OMIM:611134	TMEM231	79583	HP:0001511	Intrauterine growth retardation
OMIM:611134	TMEM231	79583	HP:0002419	Molar tooth sign on MRI
OMIM:611134	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:611134	TMEM231	79583	HP:0002323	Anencephaly
OMIM:611134	TMEM231	79583	HP:0000568	Microphthalmia
OMIM:611134	TMEM231	79583	HP:0001631	Atria septal defect
OMIM:311510	RAB39B	116442	HP:0002007	Frontal bossing
OMIM:311510	RAB39B	116442	HP:0000486	Strabismus
OMIM:311510	RAB39B	116442	HP:0001276	Hypertonia
OMIM:311510	RAB39B	116442	HP:0001300	Parkinsonism
OMIM:311510	RAB39B	116442	HP:0002167	Neurological speech impairment
OMIM:311510	RAB39B	116442	HP:0000256	Macrocephaly
OMIM:311510	RAB39B	116442	HP:0002067	Bradykinesia
OMIM:311510	RAB39B	116442	HP:0100660	Dyskinesia
OMIM:311510	RAB39B	116442	HP:0001250	Seizures
OMIM:311510	RAB39B	116442	HP:0002465	Poor speech
OMIM:311510	RAB39B	116442	HP:0100543	Cognitive impairment
OMIM:311510	RAB39B	116442	HP:0000726	Dementia
OMIM:311510	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:311510	RAB39B	116442	HP:0001263	Global developmental delay
OMIM:311510	RAB39B	116442	HP:0001260	Dysarthria
OMIM:311510	RAB39B	116442	HP:0001249	Intellectual disability
ORPHANET:735	MVK	4598	HP:0000992	Cutaneous photosensitivity
ORPHANET:735	MVK	4598	HP:0000989	Pruritus
ORPHANET:735	MVK	4598	HP:0000962	Hyperkeratosis
ORPHANET:735	MVK	4598	HP:0008069	Neoplasm of the skin
ORPHANET:735	MVK	4598	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:735	PMVK	10654	HP:0000992	Cutaneous photosensitivity
ORPHANET:735	PMVK	10654	HP:0000989	Pruritus
ORPHANET:735	PMVK	10654	HP:0000962	Hyperkeratosis
ORPHANET:735	PMVK	10654	HP:0008069	Neoplasm of the skin
ORPHANET:735	PMVK	10654	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:163800	MYH6	4624	HP:0001688	Sinus bradycardia
OMIM:163800	MYH6	4624	HP:0003577	Congenital onset
OMIM:163800	MYH6	4624	HP:0005110	Atrial fibrillation
OMIM:163800	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:163800	HCN4	10021	HP:0001688	Sinus bradycardia
OMIM:163800	HCN4	10021	HP:0003577	Congenital onset
OMIM:163800	HCN4	10021	HP:0005110	Atrial fibrillation
OMIM:163800	HCN4	10021	HP:0000006	Autosomal dominant inheritance
OMIM:163800	SCN5A	6331	HP:0001688	Sinus bradycardia
OMIM:163800	SCN5A	6331	HP:0003577	Congenital onset
OMIM:163800	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:163800	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:600057	TP63	8626	HP:0008736	Hypoplasia of penis
OMIM:600057	TP63	8626	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:600057	TP63	8626	HP:0000085	Horseshoe kidney
OMIM:600057	TP63	8626	HP:0000122	Unilateral renal agenesis
OMIM:600057	TP63	8626	HP:0001537	Umbilical hernia
OMIM:600057	TP63	8626	HP:0001539	Omphalocele
OMIM:600057	TP63	8626	HP:0000055	Abnormality of female external genitalia
OMIM:600057	TP63	8626	HP:0000023	Inguinal hernia
OMIM:600057	TP63	8626	HP:0100627	Displacement of the external urethral meatus
OMIM:600057	TP63	8626	HP:0000076	Vesicoureteral reflux
OMIM:600057	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:600057	TP63	8626	HP:0000010	Recurrent urinary tract infections
OMIM:600057	TP63	8626	HP:0000072	Hydroureter
OMIM:600057	TP63	8626	HP:0002607	Bowel incontinence
OMIM:600057	TP63	8626	HP:0002566	Intestinal malrotation
OMIM:600057	ISL1	3670	HP:0008736	Hypoplasia of penis
OMIM:600057	ISL1	3670	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:600057	ISL1	3670	HP:0000085	Horseshoe kidney
OMIM:600057	ISL1	3670	HP:0000122	Unilateral renal agenesis
OMIM:600057	ISL1	3670	HP:0001537	Umbilical hernia
OMIM:600057	ISL1	3670	HP:0001539	Omphalocele
OMIM:600057	ISL1	3670	HP:0000055	Abnormality of female external genitalia
OMIM:600057	ISL1	3670	HP:0000023	Inguinal hernia
OMIM:600057	ISL1	3670	HP:0100627	Displacement of the external urethral meatus
OMIM:600057	ISL1	3670	HP:0000076	Vesicoureteral reflux
OMIM:600057	ISL1	3670	HP:0000006	Autosomal dominant inheritance
OMIM:600057	ISL1	3670	HP:0000010	Recurrent urinary tract infections
OMIM:600057	ISL1	3670	HP:0000072	Hydroureter
OMIM:600057	ISL1	3670	HP:0002607	Bowel incontinence
OMIM:600057	ISL1	3670	HP:0002566	Intestinal malrotation
OMIM:309400	ATP7A	538	HP:0000958	Dry skin
OMIM:309400	ATP7A	538	HP:0005599	Hypopigmentation of hair
OMIM:309400	ATP7A	538	HP:0000774	Narrow chest
OMIM:309400	ATP7A	538	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:309400	ATP7A	538	HP:0000347	Micrognathia
OMIM:309400	ATP7A	538	HP:0002224	Woolly hair
OMIM:309400	ATP7A	538	HP:0002645	Wormian bones
OMIM:309400	ATP7A	538	HP:0000934	Chondrocalcinosis
OMIM:309400	ATP7A	538	HP:0002072	Chorea
OMIM:309400	ATP7A	538	HP:0002757	Recurrent fractures
OMIM:309400	ATP7A	538	HP:0000252	Microcephaly
OMIM:309400	ATP7A	538	HP:0000973	Cutis laxa
OMIM:309400	ATP7A	538	HP:0001324	Muscle weakness
OMIM:309400	ATP7A	538	HP:0002754	Osteomyelitis
OMIM:309400	ATP7A	538	HP:0001943	Hypoglycemia
OMIM:309400	ATP7A	538	HP:0003016	Metaphyseal widening
OMIM:309400	ATP7A	538	HP:0002617	Aneurysm
OMIM:309400	ATP7A	538	HP:0000269	Prominent occiput
OMIM:309400	ATP7A	538	HP:0000271	Abnormality of the face
OMIM:309400	ATP7A	538	HP:0001250	Seizures
OMIM:309400	ATP7A	538	HP:0001072	Thickened skin
OMIM:309400	ATP7A	538	HP:0100543	Cognitive impairment
OMIM:309400	ATP7A	538	HP:0003819	Death in childhood
OMIM:309400	ATP7A	538	HP:0000293	Full cheeks
OMIM:309400	ATP7A	538	HP:0008368	Tarsal synostosis
OMIM:309400	ATP7A	538	HP:0100777	Exostoses
OMIM:309400	ATP7A	538	HP:0000987	Atypical scarring of skin
OMIM:309400	ATP7A	538	HP:0002017	Nausea and vomiting
OMIM:309400	ATP7A	538	HP:0001419	X-linked recessive inheritance
OMIM:309400	ATP7A	538	HP:0001511	Intrauterine growth retardation
OMIM:309400	ATP7A	538	HP:0000708	Behavioral abnormality
OMIM:309400	ATP7A	538	HP:0002239	Gastrointestinal hemorrhage
OMIM:309400	ATP7A	538	HP:0000939	Osteoporosis
OMIM:309400	ATP7A	538	HP:0004349	Reduced bone mineral density
OMIM:309400	ATP7A	538	HP:0002170	Intracranial hemorrhage
OMIM:309400	ATP7A	538	HP:0001392	Abnormality of the liver
OMIM:309400	ATP7A	538	HP:0001010	Hypopigmentation of the skin
OMIM:309400	ATP7A	538	HP:0001276	Hypertonia
OMIM:309400	ATP7A	538	HP:0001382	Joint hypermobility
OMIM:309400	ATP7A	538	HP:0002024	Malabsorption
OMIM:309400	ATP7A	538	HP:0004322	Short stature
OMIM:309400	ATP7A	538	HP:0005344	Abnormality of the carotid arteries
OMIM:309400	ATP7A	538	HP:0001537	Umbilical hernia
OMIM:309400	ATP7A	538	HP:0000174	Abnormality of the palate
OMIM:309400	ATP7A	538	HP:0000248	Brachycephaly
OMIM:309400	ATP7A	538	HP:0000974	Hyperextensible skin
OMIM:309400	ATP7A	538	HP:0008872	Feeding difficulties in infancy
OMIM:309400	ATP7A	538	HP:0002376	Developmental regression
OMIM:309400	ATP7A	538	HP:0001252	Muscular hypotonia
OMIM:309400	ATP7A	538	HP:0011362	Abnormal hair quantity
OMIM:309400	ATP7A	538	HP:0100806	Sepsis
OMIM:309400	ATP7A	538	HP:0100545	Arterial stenosis
OMIM:309400	ATP7A	538	HP:0008070	Sparse hair
OMIM:309400	ATP7A	538	HP:0006487	Bowing of the long bones
OMIM:309400	ATP7A	538	HP:0000015	Bladder diverticulum
OMIM:309400	ATP7A	538	HP:0000767	Pectus excavatum
OMIM:309400	ATP7A	538	HP:0005293	Venous insufficiency
OMIM:309400	ATP7A	538	HP:0001388	Joint laxity
OMIM:309400	ATP7A	538	HP:0000298	Mask-like facies
OMIM:309400	ATP7A	538	HP:0001249	Intellectual disability
OMIM:202650	PRRX1	5396	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:202650	PRRX1	5396	HP:0009924	Aplasia/Hypoplasia involving the nose
OMIM:202650	PRRX1	5396	HP:0000347	Micrognathia
OMIM:202650	PRRX1	5396	HP:0001291	Abnormality of the cranial nerves
OMIM:202650	PRRX1	5396	HP:0000006	Autosomal dominant inheritance
OMIM:202650	PRRX1	5396	HP:0002093	Respiratory insufficiency
OMIM:202650	PRRX1	5396	HP:0003363	Abdominal situs inversus
OMIM:202650	PRRX1	5396	HP:0002098	Respiratory distress
OMIM:202650	PRRX1	5396	HP:0002779	Tracheomalacia
OMIM:202650	PRRX1	5396	HP:0000478	Abnormality of the eye
OMIM:202650	PRRX1	5396	HP:0000007	Autosomal recessive inheritance
OMIM:202650	PRRX1	5396	HP:0001561	Polyhydramnios
OMIM:202650	PRRX1	5396	HP:0003812	Phenotypic variability
OMIM:202650	PRRX1	5396	HP:0000405	Conductive hearing impairment
OMIM:202650	PRRX1	5396	HP:0000175	Cleft palate
OMIM:202650	PRRX1	5396	HP:0000160	Narrow mouth
OMIM:202650	PRRX1	5396	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:202650	PRRX1	5396	HP:0000368	Low-set, posteriorly rotated ears
OMIM:202650	PRRX1	5396	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:202650	PRRX1	5396	HP:0001696	Situs inversus totalis
OMIM:202650	PRRX1	5396	HP:0000494	Downslanted palpebral fissures
OMIM:202650	PRRX1	5396	HP:0001274	Agenesis of corpus callosum
OMIM:202650	PRRX1	5396	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:202650	PRRX1	5396	HP:0009914	Cyclopia
OMIM:202650	PRRX1	5396	HP:0001360	Holoprosencephaly
OMIM:202650	PRRX1	5396	HP:0008736	Hypoplasia of penis
OMIM:202650	PRRX1	5396	HP:0000171	Microglossia
OMIM:202650	OTX2	5015	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:202650	OTX2	5015	HP:0009924	Aplasia/Hypoplasia involving the nose
OMIM:202650	OTX2	5015	HP:0000347	Micrognathia
OMIM:202650	OTX2	5015	HP:0001291	Abnormality of the cranial nerves
OMIM:202650	OTX2	5015	HP:0000006	Autosomal dominant inheritance
OMIM:202650	OTX2	5015	HP:0002093	Respiratory insufficiency
OMIM:202650	OTX2	5015	HP:0003363	Abdominal situs inversus
OMIM:202650	OTX2	5015	HP:0002098	Respiratory distress
OMIM:202650	OTX2	5015	HP:0002779	Tracheomalacia
OMIM:202650	OTX2	5015	HP:0000478	Abnormality of the eye
OMIM:202650	OTX2	5015	HP:0000007	Autosomal recessive inheritance
OMIM:202650	OTX2	5015	HP:0001561	Polyhydramnios
OMIM:202650	OTX2	5015	HP:0003812	Phenotypic variability
OMIM:202650	OTX2	5015	HP:0000405	Conductive hearing impairment
OMIM:202650	OTX2	5015	HP:0000175	Cleft palate
OMIM:202650	OTX2	5015	HP:0000160	Narrow mouth
OMIM:202650	OTX2	5015	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:202650	OTX2	5015	HP:0000368	Low-set, posteriorly rotated ears
OMIM:202650	OTX2	5015	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:202650	OTX2	5015	HP:0001696	Situs inversus totalis
OMIM:202650	OTX2	5015	HP:0000494	Downslanted palpebral fissures
OMIM:202650	OTX2	5015	HP:0001274	Agenesis of corpus callosum
OMIM:202650	OTX2	5015	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:202650	OTX2	5015	HP:0009914	Cyclopia
OMIM:202650	OTX2	5015	HP:0001360	Holoprosencephaly
OMIM:202650	OTX2	5015	HP:0008736	Hypoplasia of penis
OMIM:202650	OTX2	5015	HP:0000171	Microglossia
OMIM:300310	BTK	695	HP:0002718	Recurrent bacterial infections
OMIM:300310	BTK	695	HP:0004432	Agammaglobulinemia
OMIM:300310	BTK	695	HP:0002024	Malabsorption
OMIM:300310	BTK	695	HP:0001417	X-linked inheritance
OMIM:609560	TK2	7084	HP:0003828	Variable expressivity
OMIM:609560	TK2	7084	HP:0003391	Gowers sign
OMIM:609560	TK2	7084	HP:0003355	Aminoaciduria
OMIM:609560	TK2	7084	HP:0003458	EMG: myopathic abnormalities
OMIM:609560	TK2	7084	HP:0000365	Hearing impairment
OMIM:609560	TK2	7084	HP:0006887	Intellectual disability, progressive
OMIM:609560	TK2	7084	HP:0003676	Progressive
OMIM:609560	TK2	7084	HP:0003690	Limb muscle weakness
OMIM:609560	TK2	7084	HP:0002194	Delayed gross motor development
OMIM:609560	TK2	7084	HP:0003593	Infantile onset
OMIM:609560	TK2	7084	HP:0002059	Cerebral atrophy
OMIM:609560	TK2	7084	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:609560	TK2	7084	HP:0001252	Muscular hypotonia
OMIM:609560	TK2	7084	HP:0001250	Seizures
OMIM:609560	TK2	7084	HP:0002134	Abnormality of the basal ganglia
OMIM:609560	TK2	7084	HP:0003236	Elevated serum creatine phosphokinase
OMIM:609560	TK2	7084	HP:0000007	Autosomal recessive inheritance
OMIM:609560	TK2	7084	HP:0000737	Irritability
OMIM:609560	TK2	7084	HP:0003128	Lactic acidosis
OMIM:277720	MYH3	4621	HP:0006380	Knee flexion contracture
OMIM:277720	MYH3	4621	HP:0002751	Kyphoscoliosis
OMIM:277720	MYH3	4621	HP:0000581	Blepharophimosis
OMIM:277720	MYH3	4621	HP:0009465	Ulnar deviation of finger
OMIM:277720	MYH3	4621	HP:0000160	Narrow mouth
OMIM:277720	MYH3	4621	HP:0000023	Inguinal hernia
OMIM:277720	MYH3	4621	HP:0000343	Long philtrum
OMIM:277720	MYH3	4621	HP:0000508	Ptosis
OMIM:277720	MYH3	4621	HP:0002987	Elbow flexion contracture
OMIM:277720	MYH3	4621	HP:0000171	Microglossia
OMIM:277720	MYH3	4621	HP:0001762	Talipes equinovarus
OMIM:277720	MYH3	4621	HP:0040199	Flat midface
OMIM:277720	MYH3	4621	HP:0000218	High palate
OMIM:277720	MYH3	4621	HP:0000007	Autosomal recessive inheritance
OMIM:277720	MYH3	4621	HP:0000272	Malar flattening
OMIM:277720	MYH3	4621	HP:0000430	Underdeveloped nasal alae
OMIM:277720	MYH3	4621	HP:0000286	Epicanthus
OMIM:277720	MYH3	4621	HP:0000347	Micrognathia
OMIM:277720	MYH3	4621	HP:0000506	Telecanthus
OMIM:277720	MYH3	4621	HP:0000426	Prominent nasal bridge
OMIM:277720	MYH3	4621	HP:0000316	Hypertelorism
OMIM:277720	MYH3	4621	HP:0012745	Short palpebral fissure
OMIM:277720	MYH3	4621	HP:0000470	Short neck
OMIM:277720	MYH3	4621	HP:0012385	Camptodactyly
ORPHANET:189439	PRKAR1A	5573	HP:0001065	Striae distensae
ORPHANET:189439	PRKAR1A	5573	HP:0000819	Diabetes mellitus
ORPHANET:189439	PRKAR1A	5573	HP:0003202	Skeletal muscle atrophy
ORPHANET:189439	PRKAR1A	5573	HP:0002757	Recurrent fractures
ORPHANET:189439	PRKAR1A	5573	HP:0004349	Reduced bone mineral density
ORPHANET:189439	PRKAR1A	5573	HP:0004322	Short stature
ORPHANET:189439	PRKAR1A	5573	HP:0003198	Myopathy
ORPHANET:189439	PRKAR1A	5573	HP:0000822	Hypertension
ORPHANET:189439	PRKAR1A	5573	HP:0001578	Hypercortisolism
ORPHANET:189439	PRKAR1A	5573	HP:0001324	Muscle weakness
ORPHANET:189439	PRKAR1A	5573	HP:0000078	Abnormality of the genital system
ORPHANET:189439	PRKAR1A	5573	HP:0000963	Thin skin
ORPHANET:189439	PRKAR1A	5573	HP:0001956	Truncal obesity
ORPHANET:189439	PDE11A	50940	HP:0001065	Striae distensae
ORPHANET:189439	PDE11A	50940	HP:0000819	Diabetes mellitus
ORPHANET:189439	PDE11A	50940	HP:0003202	Skeletal muscle atrophy
ORPHANET:189439	PDE11A	50940	HP:0002757	Recurrent fractures
ORPHANET:189439	PDE11A	50940	HP:0004349	Reduced bone mineral density
ORPHANET:189439	PDE11A	50940	HP:0004322	Short stature
ORPHANET:189439	PDE11A	50940	HP:0003198	Myopathy
ORPHANET:189439	PDE11A	50940	HP:0000822	Hypertension
ORPHANET:189439	PDE11A	50940	HP:0001578	Hypercortisolism
ORPHANET:189439	PDE11A	50940	HP:0001324	Muscle weakness
ORPHANET:189439	PDE11A	50940	HP:0000078	Abnormality of the genital system
ORPHANET:189439	PDE11A	50940	HP:0000963	Thin skin
ORPHANET:189439	PDE11A	50940	HP:0001956	Truncal obesity
ORPHANET:189439	PDE8B	8622	HP:0001065	Striae distensae
ORPHANET:189439	PDE8B	8622	HP:0000819	Diabetes mellitus
ORPHANET:189439	PDE8B	8622	HP:0003202	Skeletal muscle atrophy
ORPHANET:189439	PDE8B	8622	HP:0002757	Recurrent fractures
ORPHANET:189439	PDE8B	8622	HP:0004349	Reduced bone mineral density
ORPHANET:189439	PDE8B	8622	HP:0004322	Short stature
ORPHANET:189439	PDE8B	8622	HP:0003198	Myopathy
ORPHANET:189439	PDE8B	8622	HP:0000822	Hypertension
ORPHANET:189439	PDE8B	8622	HP:0001578	Hypercortisolism
ORPHANET:189439	PDE8B	8622	HP:0001324	Muscle weakness
ORPHANET:189439	PDE8B	8622	HP:0000078	Abnormality of the genital system
ORPHANET:189439	PDE8B	8622	HP:0000963	Thin skin
ORPHANET:189439	PDE8B	8622	HP:0001956	Truncal obesity
ORPHANET:189439	PRKACA	5566	HP:0001065	Striae distensae
ORPHANET:189439	PRKACA	5566	HP:0000819	Diabetes mellitus
ORPHANET:189439	PRKACA	5566	HP:0003202	Skeletal muscle atrophy
ORPHANET:189439	PRKACA	5566	HP:0002757	Recurrent fractures
ORPHANET:189439	PRKACA	5566	HP:0004349	Reduced bone mineral density
ORPHANET:189439	PRKACA	5566	HP:0004322	Short stature
ORPHANET:189439	PRKACA	5566	HP:0003198	Myopathy
ORPHANET:189439	PRKACA	5566	HP:0000822	Hypertension
ORPHANET:189439	PRKACA	5566	HP:0001578	Hypercortisolism
ORPHANET:189439	PRKACA	5566	HP:0001324	Muscle weakness
ORPHANET:189439	PRKACA	5566	HP:0000078	Abnormality of the genital system
ORPHANET:189439	PRKACA	5566	HP:0000963	Thin skin
ORPHANET:189439	PRKACA	5566	HP:0001956	Truncal obesity
OMIM:609161	PDE8B	8622	HP:0000006	Autosomal dominant inheritance
OMIM:609161	PDE8B	8622	HP:0001260	Dysarthria
OMIM:609161	PDE8B	8622	HP:0001376	Limitation of joint mobility
OMIM:609161	PDE8B	8622	HP:0000163	Abnormality of the oral cavity
OMIM:609161	PDE8B	8622	HP:0001288	Gait disturbance
OMIM:609161	PDE8B	8622	HP:0002067	Bradykinesia
OMIM:609161	PDE8B	8622	HP:0003677	Slow progression
OMIM:609161	PDE8B	8622	HP:0002063	Rigidity
OMIM:609161	PDE8B	8622	HP:0003011	Abnormality of the musculature
OMIM:609161	PDE8B	8622	HP:0002075	Dysdiadochokinesis
OMIM:615431	LRPAP1	4043	HP:0007800	Increased axial globe length
OMIM:615431	LRPAP1	4043	HP:0000505	Visual impairment
OMIM:615431	LRPAP1	4043	HP:0000007	Autosomal recessive inheritance
OMIM:615431	LRPAP1	4043	HP:0007663	Reduced visual acuity
OMIM:615431	LRPAP1	4043	HP:0011003	Severe Myopia
OMIM:615431	SCO2	9997	HP:0007800	Increased axial globe length
OMIM:615431	SCO2	9997	HP:0000505	Visual impairment
OMIM:615431	SCO2	9997	HP:0000007	Autosomal recessive inheritance
OMIM:615431	SCO2	9997	HP:0007663	Reduced visual acuity
OMIM:615431	SCO2	9997	HP:0011003	Severe Myopia
OMIM:615431	P3H2	55214	HP:0007800	Increased axial globe length
OMIM:615431	P3H2	55214	HP:0000505	Visual impairment
OMIM:615431	P3H2	55214	HP:0000007	Autosomal recessive inheritance
OMIM:615431	P3H2	55214	HP:0007663	Reduced visual acuity
OMIM:615431	P3H2	55214	HP:0011003	Severe Myopia
OMIM:608644	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:608644	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
OMIM:608644	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:608644	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:608644	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:608644	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:608644	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
OMIM:608644	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:608644	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:608644	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:608644	DNAI1	27019	HP:0002205	Recurrent respiratory infections
OMIM:608644	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:608644	DRC1	92749	HP:0002205	Recurrent respiratory infections
OMIM:608644	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:608644	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:608644	SPAG1	6674	HP:0002205	Recurrent respiratory infections
OMIM:608644	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:608644	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:608644	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:608644	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:608644	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:608644	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:608644	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:608644	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:608644	LRRC6	23639	HP:0002205	Recurrent respiratory infections
OMIM:608644	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:608644	DNAL1	83544	HP:0002205	Recurrent respiratory infections
OMIM:608644	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:608644	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:608644	ARMC4	55130	HP:0002205	Recurrent respiratory infections
OMIM:608644	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:608644	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:608644	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:608644	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:608644	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:608644	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:608644	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:608644	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
OMIM:608644	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:608644	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:608644	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
OMIM:608644	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:608644	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:608644	RSPH1	89765	HP:0002205	Recurrent respiratory infections
OMIM:608644	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:608644	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:608644	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
OMIM:608644	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:608644	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:608644	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:608644	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:608644	CCDC65	85478	HP:0002205	Recurrent respiratory infections
OMIM:608644	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:608644	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:608644	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
OMIM:608644	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:608644	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
OMIM:608644	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:608644	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:608644	CCDC151	115948	HP:0002205	Recurrent respiratory infections
OMIM:608644	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:608644	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:608644	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:608644	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:608644	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:608644	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:608644	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:608644	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:608644	HYDIN	54768	HP:0002205	Recurrent respiratory infections
OMIM:608644	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:608644	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:608644	CCDC114	93233	HP:0002205	Recurrent respiratory infections
OMIM:608644	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:608644	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:608644	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:608644	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:608644	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:608644	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:608644	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:608644	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:608644	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:608644	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:608644	DNAI2	64446	HP:0002205	Recurrent respiratory infections
OMIM:608644	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:608644	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:608644	GAS8	2622	HP:0002205	Recurrent respiratory infections
ORPHANET:970	KIF1A	547	HP:0003103	Abnormal cortical bone morphology
ORPHANET:970	KIF1A	547	HP:0001231	Abnormality of the fingernails
ORPHANET:970	KIF1A	547	HP:0003028	Abnormality of the ankles
ORPHANET:970	KIF1A	547	HP:0003202	Skeletal muscle atrophy
ORPHANET:970	KIF1A	547	HP:0000975	Hyperhidrosis
ORPHANET:970	KIF1A	547	HP:0002815	Abnormality of the knees
ORPHANET:970	KIF1A	547	HP:0001182	Tapered finger
ORPHANET:970	KIF1A	547	HP:0008388	Abnormality of the toenails
ORPHANET:970	KIF1A	547	HP:0002797	Osteolysis
ORPHANET:970	KIF1A	547	HP:0003272	Abnormality of the hip bone
ORPHANET:970	KIF1A	547	HP:0002645	Wormian bones
ORPHANET:970	KIF1A	547	HP:0003307	Hyperlordosis
ORPHANET:970	KIF1A	547	HP:0004349	Reduced bone mineral density
ORPHANET:970	KIF1A	547	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:970	WNK1	65125	HP:0003103	Abnormal cortical bone morphology
ORPHANET:970	WNK1	65125	HP:0001231	Abnormality of the fingernails
ORPHANET:970	WNK1	65125	HP:0003028	Abnormality of the ankles
ORPHANET:970	WNK1	65125	HP:0003202	Skeletal muscle atrophy
ORPHANET:970	WNK1	65125	HP:0000975	Hyperhidrosis
ORPHANET:970	WNK1	65125	HP:0002815	Abnormality of the knees
ORPHANET:970	WNK1	65125	HP:0001182	Tapered finger
ORPHANET:970	WNK1	65125	HP:0008388	Abnormality of the toenails
ORPHANET:970	WNK1	65125	HP:0002797	Osteolysis
ORPHANET:970	WNK1	65125	HP:0003272	Abnormality of the hip bone
ORPHANET:970	WNK1	65125	HP:0002645	Wormian bones
ORPHANET:970	WNK1	65125	HP:0003307	Hyperlordosis
ORPHANET:970	WNK1	65125	HP:0004349	Reduced bone mineral density
ORPHANET:970	WNK1	65125	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:970	SCN9A	6335	HP:0003103	Abnormal cortical bone morphology
ORPHANET:970	SCN9A	6335	HP:0001231	Abnormality of the fingernails
ORPHANET:970	SCN9A	6335	HP:0003028	Abnormality of the ankles
ORPHANET:970	SCN9A	6335	HP:0003202	Skeletal muscle atrophy
ORPHANET:970	SCN9A	6335	HP:0000975	Hyperhidrosis
ORPHANET:970	SCN9A	6335	HP:0002815	Abnormality of the knees
ORPHANET:970	SCN9A	6335	HP:0001182	Tapered finger
ORPHANET:970	SCN9A	6335	HP:0008388	Abnormality of the toenails
ORPHANET:970	SCN9A	6335	HP:0002797	Osteolysis
ORPHANET:970	SCN9A	6335	HP:0003272	Abnormality of the hip bone
ORPHANET:970	SCN9A	6335	HP:0002645	Wormian bones
ORPHANET:970	SCN9A	6335	HP:0003307	Hyperlordosis
ORPHANET:970	SCN9A	6335	HP:0004349	Reduced bone mineral density
ORPHANET:970	SCN9A	6335	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:970	FAM134B	54463	HP:0003103	Abnormal cortical bone morphology
ORPHANET:970	FAM134B	54463	HP:0001231	Abnormality of the fingernails
ORPHANET:970	FAM134B	54463	HP:0003028	Abnormality of the ankles
ORPHANET:970	FAM134B	54463	HP:0003202	Skeletal muscle atrophy
ORPHANET:970	FAM134B	54463	HP:0000975	Hyperhidrosis
ORPHANET:970	FAM134B	54463	HP:0002815	Abnormality of the knees
ORPHANET:970	FAM134B	54463	HP:0001182	Tapered finger
ORPHANET:970	FAM134B	54463	HP:0008388	Abnormality of the toenails
ORPHANET:970	FAM134B	54463	HP:0002797	Osteolysis
ORPHANET:970	FAM134B	54463	HP:0003272	Abnormality of the hip bone
ORPHANET:970	FAM134B	54463	HP:0002645	Wormian bones
ORPHANET:970	FAM134B	54463	HP:0003307	Hyperlordosis
ORPHANET:970	FAM134B	54463	HP:0004349	Reduced bone mineral density
ORPHANET:970	FAM134B	54463	HP:0005930	Abnormality of epiphysis morphology
OMIM:616449	MED25	81857	HP:0001252	Muscular hypotonia
OMIM:616449	MED25	81857	HP:0000486	Strabismus
OMIM:616449	MED25	81857	HP:0000047	Hypospadias
OMIM:616449	MED25	81857	HP:0000322	Short philtrum
OMIM:616449	MED25	81857	HP:0000286	Epicanthus
OMIM:616449	MED25	81857	HP:0000508	Ptosis
OMIM:616449	MED25	81857	HP:0010804	Tented upper lip vermilion
OMIM:616449	MED25	81857	HP:0000494	Downslanted palpebral fissures
OMIM:616449	MED25	81857	HP:0000175	Cleft palate
OMIM:616449	MED25	81857	HP:0000252	Microcephaly
OMIM:616449	MED25	81857	HP:0008070	Sparse hair
OMIM:616449	MED25	81857	HP:0001257	Spasticity
OMIM:616449	MED25	81857	HP:0000126	Hydronephrosis
OMIM:616449	MED25	81857	HP:0001250	Seizures
OMIM:616449	MED25	81857	HP:0000232	Everted lower lip vermilion
OMIM:616449	MED25	81857	HP:0000316	Hypertelorism
OMIM:616449	MED25	81857	HP:0000482	Microcornea
OMIM:616449	MED25	81857	HP:0002808	Kyphosis
OMIM:616449	MED25	81857	HP:0000518	Cataract
OMIM:616449	MED25	81857	HP:0001263	Global developmental delay
OMIM:616449	MED25	81857	HP:0002650	Scoliosis
OMIM:616449	MED25	81857	HP:0001671	Abnormality of the cardiac septa
OMIM:616449	MED25	81857	HP:0002119	Ventriculomegaly
OMIM:616449	MED25	81857	HP:0002079	Hypoplasia of the corpus callosum
OMIM:601358	SMARCA2	6595	HP:0001156	Brachydactyly syndrome
OMIM:601358	SMARCA2	6595	HP:0001250	Seizures
OMIM:601358	SMARCA2	6595	HP:0012810	Wide nasal base
OMIM:601358	SMARCA2	6595	HP:0100760	Clubbing of toes
OMIM:601358	SMARCA2	6595	HP:0000463	Anteverted nares
OMIM:601358	SMARCA2	6595	HP:0000499	Abnormality of the eyelashes
OMIM:601358	SMARCA2	6595	HP:0000289	Broad philtrum
OMIM:601358	SMARCA2	6595	HP:0007946	Unilateral narrow palpebral fissure
OMIM:601358	SMARCA2	6595	HP:0004322	Short stature
OMIM:601358	SMARCA2	6595	HP:0002465	Poor speech
OMIM:601358	SMARCA2	6595	HP:0010864	Intellectual disability, severe
OMIM:601358	SMARCA2	6595	HP:0000964	Eczema
OMIM:601358	SMARCA2	6595	HP:0005616	Accelerated skeletal maturation
OMIM:601358	SMARCA2	6595	HP:0000252	Microcephaly
OMIM:601358	SMARCA2	6595	HP:0001367	Abnormal joint morphology
OMIM:601358	SMARCA2	6595	HP:0002209	Sparse scalp hair
OMIM:601358	SMARCA2	6595	HP:0000028	Cryptorchidism
OMIM:601358	SMARCA2	6595	HP:0000174	Abnormality of the palate
OMIM:601358	SMARCA2	6595	HP:0000325	Triangular face
OMIM:601358	SMARCA2	6595	HP:0005930	Abnormality of epiphysis morphology
OMIM:601358	SMARCA2	6595	HP:0004404	Abnormality of the nipple
OMIM:601358	SMARCA2	6595	HP:0000494	Downslanted palpebral fissures
OMIM:601358	SMARCA2	6595	HP:0002750	Delayed skeletal maturation
OMIM:601358	SMARCA2	6595	HP:0000179	Thick lower lip vermilion
OMIM:601358	SMARCA2	6595	HP:0000233	Thin vermilion border
OMIM:601358	SMARCA2	6595	HP:0001508	Failure to thrive
OMIM:601358	SMARCA2	6595	HP:0000154	Wide mouth
OMIM:601358	SMARCA2	6595	HP:0001163	Abnormality of the metacarpal bones
OMIM:601358	SMARCA2	6595	HP:0002650	Scoliosis
OMIM:601358	SMARCA2	6595	HP:0100790	Hernia
OMIM:601358	SMARCA2	6595	HP:0011362	Abnormal hair quantity
OMIM:601358	SMARCA2	6595	HP:0000232	Everted lower lip vermilion
OMIM:601358	SMARCA2	6595	HP:0000343	Long philtrum
OMIM:601358	SMARCA2	6595	HP:0000294	Low anterior hairline
OMIM:601358	SMARCA2	6595	HP:0000446	Narrow nasal bridge
OMIM:601358	SMARCA2	6595	HP:0009803	Short phalanx of finger
OMIM:601358	SMARCA2	6595	HP:0000687	Widely spaced teeth
OMIM:601358	SMARCA2	6595	HP:0000581	Blepharophimosis
OMIM:601358	SMARCA2	6595	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:601358	SMARCA2	6595	HP:0002167	Neurological speech impairment
OMIM:601358	SMARCA2	6595	HP:0002553	Highly arched eyebrow
OMIM:601358	SMARCA2	6595	HP:0000718	Aggressive behavior
OMIM:601358	SMARCA2	6595	HP:0010049	Short metacarpal
OMIM:601358	SMARCA2	6595	HP:0001344	Absent speech
OMIM:601358	SMARCA2	6595	HP:0001852	Sandal gap
OMIM:601358	SMARCA2	6595	HP:0010743	Short metatarsal
OMIM:601358	SMARCA2	6595	HP:0006237	Prominent interphalangeal joints
OMIM:601358	SMARCA2	6595	HP:0100543	Cognitive impairment
OMIM:601358	SMARCA2	6595	HP:0001511	Intrauterine growth retardation
OMIM:601358	ARID1B	57492	HP:0001156	Brachydactyly syndrome
OMIM:601358	ARID1B	57492	HP:0001250	Seizures
OMIM:601358	ARID1B	57492	HP:0012810	Wide nasal base
OMIM:601358	ARID1B	57492	HP:0100760	Clubbing of toes
OMIM:601358	ARID1B	57492	HP:0000463	Anteverted nares
OMIM:601358	ARID1B	57492	HP:0000499	Abnormality of the eyelashes
OMIM:601358	ARID1B	57492	HP:0000289	Broad philtrum
OMIM:601358	ARID1B	57492	HP:0007946	Unilateral narrow palpebral fissure
OMIM:601358	ARID1B	57492	HP:0004322	Short stature
OMIM:601358	ARID1B	57492	HP:0002465	Poor speech
OMIM:601358	ARID1B	57492	HP:0010864	Intellectual disability, severe
OMIM:601358	ARID1B	57492	HP:0000964	Eczema
OMIM:601358	ARID1B	57492	HP:0005616	Accelerated skeletal maturation
OMIM:601358	ARID1B	57492	HP:0000252	Microcephaly
OMIM:601358	ARID1B	57492	HP:0001367	Abnormal joint morphology
OMIM:601358	ARID1B	57492	HP:0002209	Sparse scalp hair
OMIM:601358	ARID1B	57492	HP:0000028	Cryptorchidism
OMIM:601358	ARID1B	57492	HP:0000174	Abnormality of the palate
OMIM:601358	ARID1B	57492	HP:0000325	Triangular face
OMIM:601358	ARID1B	57492	HP:0005930	Abnormality of epiphysis morphology
OMIM:601358	ARID1B	57492	HP:0004404	Abnormality of the nipple
OMIM:601358	ARID1B	57492	HP:0000494	Downslanted palpebral fissures
OMIM:601358	ARID1B	57492	HP:0002750	Delayed skeletal maturation
OMIM:601358	ARID1B	57492	HP:0000179	Thick lower lip vermilion
OMIM:601358	ARID1B	57492	HP:0000233	Thin vermilion border
OMIM:601358	ARID1B	57492	HP:0001508	Failure to thrive
OMIM:601358	ARID1B	57492	HP:0000154	Wide mouth
OMIM:601358	ARID1B	57492	HP:0001163	Abnormality of the metacarpal bones
OMIM:601358	ARID1B	57492	HP:0002650	Scoliosis
OMIM:601358	ARID1B	57492	HP:0100790	Hernia
OMIM:601358	ARID1B	57492	HP:0011362	Abnormal hair quantity
OMIM:601358	ARID1B	57492	HP:0000232	Everted lower lip vermilion
OMIM:601358	ARID1B	57492	HP:0000343	Long philtrum
OMIM:601358	ARID1B	57492	HP:0000294	Low anterior hairline
OMIM:601358	ARID1B	57492	HP:0000446	Narrow nasal bridge
OMIM:601358	ARID1B	57492	HP:0009803	Short phalanx of finger
OMIM:601358	ARID1B	57492	HP:0000687	Widely spaced teeth
OMIM:601358	ARID1B	57492	HP:0000581	Blepharophimosis
OMIM:601358	ARID1B	57492	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:601358	ARID1B	57492	HP:0002167	Neurological speech impairment
OMIM:601358	ARID1B	57492	HP:0002553	Highly arched eyebrow
OMIM:601358	ARID1B	57492	HP:0000718	Aggressive behavior
OMIM:601358	ARID1B	57492	HP:0010049	Short metacarpal
OMIM:601358	ARID1B	57492	HP:0001344	Absent speech
OMIM:601358	ARID1B	57492	HP:0001852	Sandal gap
OMIM:601358	ARID1B	57492	HP:0010743	Short metatarsal
OMIM:601358	ARID1B	57492	HP:0006237	Prominent interphalangeal joints
OMIM:601358	ARID1B	57492	HP:0100543	Cognitive impairment
OMIM:601358	ARID1B	57492	HP:0001511	Intrauterine growth retardation
OMIM:180210	RLBP1	6017	HP:0000618	Blindness
OMIM:180210	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	RLBP1	6017	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:180210	RLBP1	6017	HP:0000556	Retinal dystrophy
OMIM:180210	RLBP1	6017	HP:0001105	Retinal atrophy
OMIM:180210	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:180210	SPATA7	55812	HP:0000618	Blindness
OMIM:180210	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	SPATA7	55812	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:180210	SPATA7	55812	HP:0000556	Retinal dystrophy
OMIM:180210	SPATA7	55812	HP:0001105	Retinal atrophy
OMIM:180210	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:180210	ARL6	84100	HP:0000618	Blindness
OMIM:180210	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	ARL6	84100	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:180210	ARL6	84100	HP:0000556	Retinal dystrophy
OMIM:180210	ARL6	84100	HP:0001105	Retinal atrophy
OMIM:180210	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	ARL6	84100	HP:0000662	Nyctalopia
OMIM:180210	CERKL	375298	HP:0000618	Blindness
OMIM:180210	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	CERKL	375298	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:180210	CERKL	375298	HP:0000556	Retinal dystrophy
OMIM:180210	CERKL	375298	HP:0001105	Retinal atrophy
OMIM:180210	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	CERKL	375298	HP:0000662	Nyctalopia
OMIM:180210	PRPF31	26121	HP:0000618	Blindness
OMIM:180210	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	PRPF31	26121	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:180210	PRPF31	26121	HP:0000556	Retinal dystrophy
OMIM:180210	PRPF31	26121	HP:0001105	Retinal atrophy
OMIM:180210	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:180210	TTC8	123016	HP:0000618	Blindness
OMIM:180210	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	TTC8	123016	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:180210	TTC8	123016	HP:0000556	Retinal dystrophy
OMIM:180210	TTC8	123016	HP:0001105	Retinal atrophy
OMIM:180210	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	TTC8	123016	HP:0000662	Nyctalopia
OMIM:180210	PROM1	8842	HP:0000618	Blindness
OMIM:180210	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	PROM1	8842	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:180210	PROM1	8842	HP:0000556	Retinal dystrophy
OMIM:180210	PROM1	8842	HP:0001105	Retinal atrophy
OMIM:180210	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	PROM1	8842	HP:0000662	Nyctalopia
OMIM:180210	LRAT	9227	HP:0000618	Blindness
OMIM:180210	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	LRAT	9227	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:180210	LRAT	9227	HP:0000556	Retinal dystrophy
OMIM:180210	LRAT	9227	HP:0001105	Retinal atrophy
OMIM:180210	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	LRAT	9227	HP:0000662	Nyctalopia
OMIM:180210	IFT140	9742	HP:0000618	Blindness
OMIM:180210	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	IFT140	9742	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:180210	IFT140	9742	HP:0000556	Retinal dystrophy
OMIM:180210	IFT140	9742	HP:0001105	Retinal atrophy
OMIM:180210	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	IFT140	9742	HP:0000662	Nyctalopia
OMIM:180210	BEST1	7439	HP:0000618	Blindness
OMIM:180210	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	BEST1	7439	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:180210	BEST1	7439	HP:0000556	Retinal dystrophy
OMIM:180210	BEST1	7439	HP:0001105	Retinal atrophy
OMIM:180210	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	BEST1	7439	HP:0000662	Nyctalopia
OMIM:180210	NEK2	4751	HP:0000618	Blindness
OMIM:180210	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	NEK2	4751	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:180210	NEK2	4751	HP:0000556	Retinal dystrophy
OMIM:180210	NEK2	4751	HP:0001105	Retinal atrophy
OMIM:180210	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	NEK2	4751	HP:0000662	Nyctalopia
OMIM:180210	ARL2BP	23568	HP:0000618	Blindness
OMIM:180210	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	ARL2BP	23568	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:180210	ARL2BP	23568	HP:0000556	Retinal dystrophy
OMIM:180210	ARL2BP	23568	HP:0001105	Retinal atrophy
OMIM:180210	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:180210	NR2E3	10002	HP:0000618	Blindness
OMIM:180210	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	NR2E3	10002	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:180210	NR2E3	10002	HP:0000556	Retinal dystrophy
OMIM:180210	NR2E3	10002	HP:0001105	Retinal atrophy
OMIM:180210	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:180210	EYS	346007	HP:0000618	Blindness
OMIM:180210	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	EYS	346007	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:180210	EYS	346007	HP:0000556	Retinal dystrophy
OMIM:180210	EYS	346007	HP:0001105	Retinal atrophy
OMIM:180210	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	EYS	346007	HP:0000662	Nyctalopia
OMIM:180210	MAK	4117	HP:0000618	Blindness
OMIM:180210	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	MAK	4117	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:180210	MAK	4117	HP:0000556	Retinal dystrophy
OMIM:180210	MAK	4117	HP:0001105	Retinal atrophy
OMIM:180210	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	MAK	4117	HP:0000662	Nyctalopia
OMIM:180210	SAG	6295	HP:0000618	Blindness
OMIM:180210	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	SAG	6295	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:180210	SAG	6295	HP:0000556	Retinal dystrophy
OMIM:180210	SAG	6295	HP:0001105	Retinal atrophy
OMIM:180210	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	SAG	6295	HP:0000662	Nyctalopia
OMIM:180210	ABCA4	24	HP:0000618	Blindness
OMIM:180210	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	ABCA4	24	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:180210	ABCA4	24	HP:0000556	Retinal dystrophy
OMIM:180210	ABCA4	24	HP:0001105	Retinal atrophy
OMIM:180210	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	ABCA4	24	HP:0000662	Nyctalopia
OMIM:180210	PDE6A	5145	HP:0000618	Blindness
OMIM:180210	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	PDE6A	5145	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:180210	PDE6A	5145	HP:0000556	Retinal dystrophy
OMIM:180210	PDE6A	5145	HP:0001105	Retinal atrophy
OMIM:180210	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:180210	PDE6G	5148	HP:0000618	Blindness
OMIM:180210	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	PDE6G	5148	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:180210	PDE6G	5148	HP:0000556	Retinal dystrophy
OMIM:180210	PDE6G	5148	HP:0001105	Retinal atrophy
OMIM:180210	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:180210	IMPDH1	3614	HP:0000618	Blindness
OMIM:180210	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	IMPDH1	3614	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:180210	IMPDH1	3614	HP:0000556	Retinal dystrophy
OMIM:180210	IMPDH1	3614	HP:0001105	Retinal atrophy
OMIM:180210	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:180210	OFD1	8481	HP:0000618	Blindness
OMIM:180210	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	OFD1	8481	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:180210	OFD1	8481	HP:0000556	Retinal dystrophy
OMIM:180210	OFD1	8481	HP:0001105	Retinal atrophy
OMIM:180210	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	OFD1	8481	HP:0000662	Nyctalopia
OMIM:180210	GUCA1B	2979	HP:0000618	Blindness
OMIM:180210	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	GUCA1B	2979	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:180210	GUCA1B	2979	HP:0000556	Retinal dystrophy
OMIM:180210	GUCA1B	2979	HP:0001105	Retinal atrophy
OMIM:180210	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:180210	NRL	4901	HP:0000618	Blindness
OMIM:180210	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	NRL	4901	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:180210	NRL	4901	HP:0000556	Retinal dystrophy
OMIM:180210	NRL	4901	HP:0001105	Retinal atrophy
OMIM:180210	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	NRL	4901	HP:0000662	Nyctalopia
OMIM:180210	PDE6B	5158	HP:0000618	Blindness
OMIM:180210	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	PDE6B	5158	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:180210	PDE6B	5158	HP:0000556	Retinal dystrophy
OMIM:180210	PDE6B	5158	HP:0001105	Retinal atrophy
OMIM:180210	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:180210	KLHL7	55975	HP:0000618	Blindness
OMIM:180210	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	KLHL7	55975	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:180210	KLHL7	55975	HP:0000556	Retinal dystrophy
OMIM:180210	KLHL7	55975	HP:0001105	Retinal atrophy
OMIM:180210	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:180210	PRPF4	9128	HP:0000618	Blindness
OMIM:180210	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	PRPF4	9128	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:180210	PRPF4	9128	HP:0000556	Retinal dystrophy
OMIM:180210	PRPF4	9128	HP:0001105	Retinal atrophy
OMIM:180210	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:180210	PRPF3	9129	HP:0000618	Blindness
OMIM:180210	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	PRPF3	9129	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:180210	PRPF3	9129	HP:0000556	Retinal dystrophy
OMIM:180210	PRPF3	9129	HP:0001105	Retinal atrophy
OMIM:180210	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:180210	FAM161A	84140	HP:0000618	Blindness
OMIM:180210	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	FAM161A	84140	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:180210	FAM161A	84140	HP:0000556	Retinal dystrophy
OMIM:180210	FAM161A	84140	HP:0001105	Retinal atrophy
OMIM:180210	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:180210	IFT172	26160	HP:0000618	Blindness
OMIM:180210	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	IFT172	26160	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:180210	IFT172	26160	HP:0000556	Retinal dystrophy
OMIM:180210	IFT172	26160	HP:0001105	Retinal atrophy
OMIM:180210	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	IFT172	26160	HP:0000662	Nyctalopia
OMIM:180210	KIZ	55857	HP:0000618	Blindness
OMIM:180210	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	KIZ	55857	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:180210	KIZ	55857	HP:0000556	Retinal dystrophy
OMIM:180210	KIZ	55857	HP:0001105	Retinal atrophy
OMIM:180210	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	KIZ	55857	HP:0000662	Nyctalopia
OMIM:180210	CDHR1	92211	HP:0000618	Blindness
OMIM:180210	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	CDHR1	92211	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:180210	CDHR1	92211	HP:0000556	Retinal dystrophy
OMIM:180210	CDHR1	92211	HP:0001105	Retinal atrophy
OMIM:180210	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:180210	ZNF408	79797	HP:0000618	Blindness
OMIM:180210	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	ZNF408	79797	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:180210	ZNF408	79797	HP:0000556	Retinal dystrophy
OMIM:180210	ZNF408	79797	HP:0001105	Retinal atrophy
OMIM:180210	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:180210	RBP3	5949	HP:0000618	Blindness
OMIM:180210	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	RBP3	5949	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:180210	RBP3	5949	HP:0000556	Retinal dystrophy
OMIM:180210	RBP3	5949	HP:0001105	Retinal atrophy
OMIM:180210	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	RBP3	5949	HP:0000662	Nyctalopia
OMIM:180210	HGSNAT	138050	HP:0000618	Blindness
OMIM:180210	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	HGSNAT	138050	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:180210	HGSNAT	138050	HP:0000556	Retinal dystrophy
OMIM:180210	HGSNAT	138050	HP:0001105	Retinal atrophy
OMIM:180210	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:180210	FSCN2	25794	HP:0000618	Blindness
OMIM:180210	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	FSCN2	25794	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:180210	FSCN2	25794	HP:0000556	Retinal dystrophy
OMIM:180210	FSCN2	25794	HP:0001105	Retinal atrophy
OMIM:180210	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:180210	PRCD	768206	HP:0000618	Blindness
OMIM:180210	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	PRCD	768206	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:180210	PRCD	768206	HP:0000556	Retinal dystrophy
OMIM:180210	PRCD	768206	HP:0001105	Retinal atrophy
OMIM:180210	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	PRCD	768206	HP:0000662	Nyctalopia
OMIM:180210	BBS2	583	HP:0000618	Blindness
OMIM:180210	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	BBS2	583	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:180210	BBS2	583	HP:0000556	Retinal dystrophy
OMIM:180210	BBS2	583	HP:0001105	Retinal atrophy
OMIM:180210	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	BBS2	583	HP:0000662	Nyctalopia
OMIM:180210	RDH12	145226	HP:0000618	Blindness
OMIM:180210	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	RDH12	145226	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:180210	RDH12	145226	HP:0000556	Retinal dystrophy
OMIM:180210	RDH12	145226	HP:0001105	Retinal atrophy
OMIM:180210	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	RDH12	145226	HP:0000662	Nyctalopia
OMIM:180210	PRPH2	5961	HP:0000618	Blindness
OMIM:180210	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	PRPH2	5961	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:180210	PRPH2	5961	HP:0000556	Retinal dystrophy
OMIM:180210	PRPH2	5961	HP:0001105	Retinal atrophy
OMIM:180210	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:180210	DHDDS	79947	HP:0000618	Blindness
OMIM:180210	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	DHDDS	79947	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:180210	DHDDS	79947	HP:0000556	Retinal dystrophy
OMIM:180210	DHDDS	79947	HP:0001105	Retinal atrophy
OMIM:180210	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:180210	ROM1	6094	HP:0000618	Blindness
OMIM:180210	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	ROM1	6094	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:180210	ROM1	6094	HP:0000556	Retinal dystrophy
OMIM:180210	ROM1	6094	HP:0001105	Retinal atrophy
OMIM:180210	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	ROM1	6094	HP:0000662	Nyctalopia
OMIM:180210	C2ORF71	388939	HP:0000618	Blindness
OMIM:180210	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	C2ORF71	388939	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:180210	C2ORF71	388939	HP:0000556	Retinal dystrophy
OMIM:180210	C2ORF71	388939	HP:0001105	Retinal atrophy
OMIM:180210	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:180210	RP9	6100	HP:0000618	Blindness
OMIM:180210	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	RP9	6100	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:180210	RP9	6100	HP:0000556	Retinal dystrophy
OMIM:180210	RP9	6100	HP:0001105	Retinal atrophy
OMIM:180210	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	RP9	6100	HP:0000662	Nyctalopia
OMIM:180210	PRPF6	24148	HP:0000618	Blindness
OMIM:180210	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	PRPF6	24148	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:180210	PRPF6	24148	HP:0000556	Retinal dystrophy
OMIM:180210	PRPF6	24148	HP:0001105	Retinal atrophy
OMIM:180210	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:180210	RP1	6101	HP:0000618	Blindness
OMIM:180210	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	RP1	6101	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:180210	RP1	6101	HP:0000556	Retinal dystrophy
OMIM:180210	RP1	6101	HP:0001105	Retinal atrophy
OMIM:180210	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	RP1	6101	HP:0000662	Nyctalopia
OMIM:180210	RP2	6102	HP:0000618	Blindness
OMIM:180210	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	RP2	6102	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:180210	RP2	6102	HP:0000556	Retinal dystrophy
OMIM:180210	RP2	6102	HP:0001105	Retinal atrophy
OMIM:180210	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	RP2	6102	HP:0000662	Nyctalopia
OMIM:180210	RPGR	6103	HP:0000618	Blindness
OMIM:180210	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	RPGR	6103	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:180210	RPGR	6103	HP:0000556	Retinal dystrophy
OMIM:180210	RPGR	6103	HP:0001105	Retinal atrophy
OMIM:180210	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	RPGR	6103	HP:0000662	Nyctalopia
OMIM:180210	SEMA4A	64218	HP:0000618	Blindness
OMIM:180210	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	SEMA4A	64218	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:180210	SEMA4A	64218	HP:0000556	Retinal dystrophy
OMIM:180210	SEMA4A	64218	HP:0001105	Retinal atrophy
OMIM:180210	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:180210	C8ORF37	157657	HP:0000618	Blindness
OMIM:180210	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	C8ORF37	157657	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:180210	C8ORF37	157657	HP:0000556	Retinal dystrophy
OMIM:180210	C8ORF37	157657	HP:0001105	Retinal atrophy
OMIM:180210	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:180210	IDH3B	3420	HP:0000618	Blindness
OMIM:180210	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	IDH3B	3420	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:180210	IDH3B	3420	HP:0000556	Retinal dystrophy
OMIM:180210	IDH3B	3420	HP:0001105	Retinal atrophy
OMIM:180210	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:180210	MERTK	10461	HP:0000618	Blindness
OMIM:180210	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	MERTK	10461	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:180210	MERTK	10461	HP:0000556	Retinal dystrophy
OMIM:180210	MERTK	10461	HP:0001105	Retinal atrophy
OMIM:180210	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	MERTK	10461	HP:0000662	Nyctalopia
OMIM:180210	PRPF8	10594	HP:0000618	Blindness
OMIM:180210	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	PRPF8	10594	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:180210	PRPF8	10594	HP:0000556	Retinal dystrophy
OMIM:180210	PRPF8	10594	HP:0001105	Retinal atrophy
OMIM:180210	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:180210	TOPORS	10210	HP:0000618	Blindness
OMIM:180210	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	TOPORS	10210	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:180210	TOPORS	10210	HP:0000556	Retinal dystrophy
OMIM:180210	TOPORS	10210	HP:0001105	Retinal atrophy
OMIM:180210	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:180210	USH2A	7399	HP:0000618	Blindness
OMIM:180210	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	USH2A	7399	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:180210	USH2A	7399	HP:0000556	Retinal dystrophy
OMIM:180210	USH2A	7399	HP:0001105	Retinal atrophy
OMIM:180210	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	USH2A	7399	HP:0000662	Nyctalopia
OMIM:180210	RPE65	6121	HP:0000618	Blindness
OMIM:180210	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	RPE65	6121	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:180210	RPE65	6121	HP:0000556	Retinal dystrophy
OMIM:180210	RPE65	6121	HP:0001105	Retinal atrophy
OMIM:180210	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	RPE65	6121	HP:0000662	Nyctalopia
OMIM:180210	CLRN1	7401	HP:0000618	Blindness
OMIM:180210	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	CLRN1	7401	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:180210	CLRN1	7401	HP:0000556	Retinal dystrophy
OMIM:180210	CLRN1	7401	HP:0001105	Retinal atrophy
OMIM:180210	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:180210	CNGB1	1258	HP:0000618	Blindness
OMIM:180210	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	CNGB1	1258	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:180210	CNGB1	1258	HP:0000556	Retinal dystrophy
OMIM:180210	CNGB1	1258	HP:0001105	Retinal atrophy
OMIM:180210	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:180210	RGR	5995	HP:0000618	Blindness
OMIM:180210	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	RGR	5995	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:180210	RGR	5995	HP:0000556	Retinal dystrophy
OMIM:180210	RGR	5995	HP:0001105	Retinal atrophy
OMIM:180210	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	RGR	5995	HP:0000662	Nyctalopia
OMIM:180210	CNGA1	1259	HP:0000618	Blindness
OMIM:180210	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	CNGA1	1259	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:180210	CNGA1	1259	HP:0000556	Retinal dystrophy
OMIM:180210	CNGA1	1259	HP:0001105	Retinal atrophy
OMIM:180210	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:180210	TUB	7275	HP:0000618	Blindness
OMIM:180210	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	TUB	7275	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:180210	TUB	7275	HP:0000556	Retinal dystrophy
OMIM:180210	TUB	7275	HP:0001105	Retinal atrophy
OMIM:180210	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	TUB	7275	HP:0000662	Nyctalopia
OMIM:180210	SNRNP200	23020	HP:0000618	Blindness
OMIM:180210	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	SNRNP200	23020	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:180210	SNRNP200	23020	HP:0000556	Retinal dystrophy
OMIM:180210	SNRNP200	23020	HP:0001105	Retinal atrophy
OMIM:180210	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:180210	SLC7A14	57709	HP:0000618	Blindness
OMIM:180210	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	SLC7A14	57709	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:180210	SLC7A14	57709	HP:0000556	Retinal dystrophy
OMIM:180210	SLC7A14	57709	HP:0001105	Retinal atrophy
OMIM:180210	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:180210	TULP1	7287	HP:0000618	Blindness
OMIM:180210	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	TULP1	7287	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:180210	TULP1	7287	HP:0000556	Retinal dystrophy
OMIM:180210	TULP1	7287	HP:0001105	Retinal atrophy
OMIM:180210	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	TULP1	7287	HP:0000662	Nyctalopia
OMIM:180210	RHO	6010	HP:0000618	Blindness
OMIM:180210	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	RHO	6010	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:180210	RHO	6010	HP:0000556	Retinal dystrophy
OMIM:180210	RHO	6010	HP:0001105	Retinal atrophy
OMIM:180210	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	RHO	6010	HP:0000662	Nyctalopia
OMIM:180210	CA4	762	HP:0000618	Blindness
OMIM:180210	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	CA4	762	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:180210	CA4	762	HP:0000556	Retinal dystrophy
OMIM:180210	CA4	762	HP:0001105	Retinal atrophy
OMIM:180210	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	CA4	762	HP:0000662	Nyctalopia
OMIM:180210	CRB1	23418	HP:0000618	Blindness
OMIM:180210	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	CRB1	23418	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:180210	CRB1	23418	HP:0000556	Retinal dystrophy
OMIM:180210	CRB1	23418	HP:0001105	Retinal atrophy
OMIM:180210	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	CRB1	23418	HP:0000662	Nyctalopia
OMIM:180210	IMPG2	50939	HP:0000618	Blindness
OMIM:180210	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	IMPG2	50939	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:180210	IMPG2	50939	HP:0000556	Retinal dystrophy
OMIM:180210	IMPG2	50939	HP:0001105	Retinal atrophy
OMIM:180210	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:180210	ZNF513	130557	HP:0000618	Blindness
OMIM:180210	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	ZNF513	130557	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:180210	ZNF513	130557	HP:0000556	Retinal dystrophy
OMIM:180210	ZNF513	130557	HP:0001105	Retinal atrophy
OMIM:180210	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:180210	CRX	1406	HP:0000618	Blindness
OMIM:180210	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:180210	CRX	1406	HP:0001146	Pigmentary retinal degeneration
OMIM:180210	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:180210	CRX	1406	HP:0000556	Retinal dystrophy
OMIM:180210	CRX	1406	HP:0001105	Retinal atrophy
OMIM:180210	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180210	CRX	1406	HP:0000662	Nyctalopia
OMIM:166780	PAX1	5075	HP:0003691	Scapular winging
OMIM:166780	PAX1	5075	HP:0004467	Preauricular pit
OMIM:166780	PAX1	5075	HP:0200021	Down-sloping shoulders
OMIM:166780	PAX1	5075	HP:0000006	Autosomal dominant inheritance
OMIM:166780	PAX1	5075	HP:0000276	Long face
OMIM:166780	PAX1	5075	HP:0001256	Intellectual disability, mild
OMIM:166780	PAX1	5075	HP:0000405	Conductive hearing impairment
OMIM:166780	EYA1	2138	HP:0003691	Scapular winging
OMIM:166780	EYA1	2138	HP:0004467	Preauricular pit
OMIM:166780	EYA1	2138	HP:0200021	Down-sloping shoulders
OMIM:166780	EYA1	2138	HP:0000006	Autosomal dominant inheritance
OMIM:166780	EYA1	2138	HP:0000276	Long face
OMIM:166780	EYA1	2138	HP:0001256	Intellectual disability, mild
OMIM:166780	EYA1	2138	HP:0000405	Conductive hearing impairment
OMIM:615547	MAGEL2	54551	HP:0000280	Coarse facial features
OMIM:615547	MAGEL2	54551	HP:0000135	Hypogonadism
OMIM:615547	MAGEL2	54551	HP:0000194	Open mouth
OMIM:615547	MAGEL2	54551	HP:0000565	Esotropia
OMIM:615547	MAGEL2	54551	HP:0002019	Constipation
OMIM:615547	MAGEL2	54551	HP:0001250	Seizures
OMIM:615547	MAGEL2	54551	HP:0010535	Sleep apnea
OMIM:615547	MAGEL2	54551	HP:0001513	Obesity
OMIM:615547	MAGEL2	54551	HP:0200055	Small hand
OMIM:615547	MAGEL2	54551	HP:0001263	Global developmental delay
OMIM:615547	MAGEL2	54551	HP:0000028	Cryptorchidism
OMIM:615547	MAGEL2	54551	HP:0001249	Intellectual disability
OMIM:615547	MAGEL2	54551	HP:0001371	Flexion contracture
OMIM:615547	MAGEL2	54551	HP:0000006	Autosomal dominant inheritance
OMIM:615547	MAGEL2	54551	HP:0000054	Micropenis
OMIM:615547	MAGEL2	54551	HP:0004322	Short stature
OMIM:615547	MAGEL2	54551	HP:0000545	Myopia
OMIM:615547	MAGEL2	54551	HP:0001531	Failure to thrive in infancy
OMIM:615547	MAGEL2	54551	HP:0003593	Infantile onset
OMIM:615547	MAGEL2	54551	HP:0011968	Feeding difficulties
OMIM:615547	MAGEL2	54551	HP:0000341	Narrow forehead
OMIM:615547	MAGEL2	54551	HP:0001319	Neonatal hypotonia
OMIM:112250	MTAP	4507	HP:0000963	Thin skin
OMIM:112250	MTAP	4507	HP:0000938	Osteopenia
OMIM:112250	MTAP	4507	HP:0002669	Osteosarcoma
OMIM:112250	MTAP	4507	HP:0002979	Bowing of the legs
OMIM:112250	MTAP	4507	HP:0003198	Myopathy
OMIM:112250	MTAP	4507	HP:0002216	Premature graying of hair
OMIM:112250	MTAP	4507	HP:0000978	Bruising susceptibility
OMIM:112250	MTAP	4507	HP:0003690	Limb muscle weakness
OMIM:112250	MTAP	4507	HP:0000006	Autosomal dominant inheritance
OMIM:112250	MTAP	4507	HP:0003701	Proximal muscle weakness
OMIM:112250	MTAP	4507	HP:0003676	Progressive
OMIM:112250	MTAP	4507	HP:0000977	Soft skin
OMIM:112250	MTAP	4507	HP:0002756	Pathologic fracture
OMIM:112250	MTAP	4507	HP:0003202	Skeletal muscle atrophy
OMIM:135290	APC	324	HP:0003326	Myalgia
OMIM:135290	APC	324	HP:0001376	Limitation of joint mobility
OMIM:135290	APC	324	HP:0002027	Abdominal pain
OMIM:135290	APC	324	HP:0002024	Malabsorption
OMIM:135290	APC	324	HP:0000006	Autosomal dominant inheritance
OMIM:135290	APC	324	HP:0002797	Osteolysis
OMIM:135290	APC	324	HP:0008069	Neoplasm of the skin
OMIM:135290	APC	324	HP:0100242	Sarcoma
OMIM:135290	APC	324	HP:0200040	Epidermoid cyst
OMIM:135290	APC	324	HP:0004298	Abnormality of the abdominal wall
OMIM:135290	APC	324	HP:0005214	Intestinal obstruction
OMIM:135290	APC	324	HP:0007703	Abnormality of retinal pigmentation
OMIM:135290	APC	324	HP:0002829	Arthralgia
OMIM:135290	APC	324	HP:0100749	Chest pain
OMIM:135290	APC	324	HP:0200008	Intestinal polyposis
OMIM:135290	APC	324	HP:0002239	Gastrointestinal hemorrhage
OMIM:135290	APC	324	HP:0010935	Abnormality of the upper urinary tract
OMIM:135290	APC	324	HP:0100806	Sepsis
OMIM:135290	CTNNB1	1499	HP:0003326	Myalgia
OMIM:135290	CTNNB1	1499	HP:0001376	Limitation of joint mobility
OMIM:135290	CTNNB1	1499	HP:0002027	Abdominal pain
OMIM:135290	CTNNB1	1499	HP:0002024	Malabsorption
OMIM:135290	CTNNB1	1499	HP:0000006	Autosomal dominant inheritance
OMIM:135290	CTNNB1	1499	HP:0002797	Osteolysis
OMIM:135290	CTNNB1	1499	HP:0008069	Neoplasm of the skin
OMIM:135290	CTNNB1	1499	HP:0100242	Sarcoma
OMIM:135290	CTNNB1	1499	HP:0200040	Epidermoid cyst
OMIM:135290	CTNNB1	1499	HP:0004298	Abnormality of the abdominal wall
OMIM:135290	CTNNB1	1499	HP:0005214	Intestinal obstruction
OMIM:135290	CTNNB1	1499	HP:0007703	Abnormality of retinal pigmentation
OMIM:135290	CTNNB1	1499	HP:0002829	Arthralgia
OMIM:135290	CTNNB1	1499	HP:0100749	Chest pain
OMIM:135290	CTNNB1	1499	HP:0200008	Intestinal polyposis
OMIM:135290	CTNNB1	1499	HP:0002239	Gastrointestinal hemorrhage
OMIM:135290	CTNNB1	1499	HP:0010935	Abnormality of the upper urinary tract
OMIM:135290	CTNNB1	1499	HP:0100806	Sepsis
OMIM:179800	SLC4A1	6521	HP:0002756	Pathologic fracture
OMIM:179800	SLC4A1	6521	HP:0002901	Hypocalcemia
OMIM:179800	SLC4A1	6521	HP:0008897	Postnatal growth retardation
OMIM:179800	SLC4A1	6521	HP:0000006	Autosomal dominant inheritance
OMIM:179800	SLC4A1	6521	HP:0000121	Nephrocalcinosis
OMIM:430000	IL3RA	3563	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:615830	PRKAR1A	5573	HP:0001579	Primary hypercorticolism
OMIM:615830	PRKAR1A	5573	HP:0001030	Fragile skin
OMIM:615830	PRKAR1A	5573	HP:0001596	Alopecia
OMIM:615830	PRKAR1A	5573	HP:0000819	Diabetes mellitus
OMIM:615830	PRKAR1A	5573	HP:0000822	Hypertension
OMIM:615830	PRKAR1A	5573	HP:0008221	Adrenal hyperplasia
OMIM:615830	PRKAR1A	5573	HP:0000712	Emotional lability
OMIM:615830	PRKAR1A	5573	HP:0000939	Osteoporosis
OMIM:615830	PRKAR1A	5573	HP:0001061	Acne
OMIM:615830	PRKAR1A	5573	HP:0003701	Proximal muscle weakness
OMIM:615830	PRKAR1A	5573	HP:0000978	Bruising susceptibility
OMIM:615830	PRKAR1A	5573	HP:0000938	Osteopenia
OMIM:615830	PRKAR1A	5573	HP:0004324	Increased body weight
OMIM:615830	PRKAR1A	5573	HP:0001007	Hirsutism
OMIM:615830	PDE11A	50940	HP:0001579	Primary hypercorticolism
OMIM:615830	PDE11A	50940	HP:0001030	Fragile skin
OMIM:615830	PDE11A	50940	HP:0001596	Alopecia
OMIM:615830	PDE11A	50940	HP:0000819	Diabetes mellitus
OMIM:615830	PDE11A	50940	HP:0000822	Hypertension
OMIM:615830	PDE11A	50940	HP:0008221	Adrenal hyperplasia
OMIM:615830	PDE11A	50940	HP:0000712	Emotional lability
OMIM:615830	PDE11A	50940	HP:0000939	Osteoporosis
OMIM:615830	PDE11A	50940	HP:0001061	Acne
OMIM:615830	PDE11A	50940	HP:0003701	Proximal muscle weakness
OMIM:615830	PDE11A	50940	HP:0000978	Bruising susceptibility
OMIM:615830	PDE11A	50940	HP:0000938	Osteopenia
OMIM:615830	PDE11A	50940	HP:0004324	Increased body weight
OMIM:615830	PDE11A	50940	HP:0001007	Hirsutism
OMIM:615830	PRKACA	5566	HP:0001579	Primary hypercorticolism
OMIM:615830	PRKACA	5566	HP:0001030	Fragile skin
OMIM:615830	PRKACA	5566	HP:0001596	Alopecia
OMIM:615830	PRKACA	5566	HP:0000819	Diabetes mellitus
OMIM:615830	PRKACA	5566	HP:0000822	Hypertension
OMIM:615830	PRKACA	5566	HP:0008221	Adrenal hyperplasia
OMIM:615830	PRKACA	5566	HP:0000712	Emotional lability
OMIM:615830	PRKACA	5566	HP:0000939	Osteoporosis
OMIM:615830	PRKACA	5566	HP:0001061	Acne
OMIM:615830	PRKACA	5566	HP:0003701	Proximal muscle weakness
OMIM:615830	PRKACA	5566	HP:0000978	Bruising susceptibility
OMIM:615830	PRKACA	5566	HP:0000938	Osteopenia
OMIM:615830	PRKACA	5566	HP:0004324	Increased body weight
OMIM:615830	PRKACA	5566	HP:0001007	Hirsutism
OMIM:615830	PDE8B	8622	HP:0001579	Primary hypercorticolism
OMIM:615830	PDE8B	8622	HP:0001030	Fragile skin
OMIM:615830	PDE8B	8622	HP:0001596	Alopecia
OMIM:615830	PDE8B	8622	HP:0000819	Diabetes mellitus
OMIM:615830	PDE8B	8622	HP:0000822	Hypertension
OMIM:615830	PDE8B	8622	HP:0008221	Adrenal hyperplasia
OMIM:615830	PDE8B	8622	HP:0000712	Emotional lability
OMIM:615830	PDE8B	8622	HP:0000939	Osteoporosis
OMIM:615830	PDE8B	8622	HP:0001061	Acne
OMIM:615830	PDE8B	8622	HP:0003701	Proximal muscle weakness
OMIM:615830	PDE8B	8622	HP:0000978	Bruising susceptibility
OMIM:615830	PDE8B	8622	HP:0000938	Osteopenia
OMIM:615830	PDE8B	8622	HP:0004324	Increased body weight
OMIM:615830	PDE8B	8622	HP:0001007	Hirsutism
OMIM:608022	BMPER	168667	HP:0003196	Short nose
OMIM:608022	BMPER	168667	HP:0003422	Vertebral segmentation defect
OMIM:608022	BMPER	168667	HP:0001765	Hammertoe
OMIM:608022	BMPER	168667	HP:0000470	Short neck
OMIM:608022	BMPER	168667	HP:0000023	Inguinal hernia
OMIM:608022	BMPER	168667	HP:0001511	Intrauterine growth retardation
OMIM:608022	BMPER	168667	HP:0000239	Large fontanelles
OMIM:608022	BMPER	168667	HP:0002089	Pulmonary hypoplasia
OMIM:608022	BMPER	168667	HP:0005280	Depressed nasal bridge
OMIM:608022	BMPER	168667	HP:0000347	Micrognathia
OMIM:608022	BMPER	168667	HP:0000457	Depressed nasal ridge
OMIM:608022	BMPER	168667	HP:0001263	Global developmental delay
OMIM:608022	BMPER	168667	HP:0000465	Webbed neck
OMIM:608022	BMPER	168667	HP:0002126	Polymicrogyria
OMIM:608022	BMPER	168667	HP:0010880	Increased nuchal translucency
OMIM:608022	BMPER	168667	HP:0005257	Thoracic hypoplasia
OMIM:608022	BMPER	168667	HP:0010306	Short thorax
OMIM:608022	BMPER	168667	HP:0002098	Respiratory distress
OMIM:608022	BMPER	168667	HP:0000369	Low-set ears
OMIM:608022	BMPER	168667	HP:0000286	Epicanthus
OMIM:608022	BMPER	168667	HP:0001252	Muscular hypotonia
OMIM:608022	BMPER	168667	HP:0000007	Autosomal recessive inheritance
OMIM:608022	BMPER	168667	HP:0000921	Missing ribs
OMIM:608022	BMPER	168667	HP:0000113	Polycystic kidney dysplasia
OMIM:608022	BMPER	168667	HP:0000175	Cleft palate
OMIM:608022	BMPER	168667	HP:0001762	Talipes equinovarus
OMIM:608022	BMPER	168667	HP:0003521	Disproportionate short-trunk short stature
OMIM:608022	BMPER	168667	HP:0001591	Bell-shaped thorax
OMIM:608022	BMPER	168667	HP:0001562	Oligohydramnios
OMIM:608022	BMPER	168667	HP:0002779	Tracheomalacia
OMIM:608022	BMPER	168667	HP:0000316	Hypertelorism
OMIM:608022	BMPER	168667	HP:0001538	Protuberant abdomen
OMIM:608022	BMPER	168667	HP:0001804	Hypoplastic fingernail
OMIM:615946	SLC39A5	283375	HP:0000545	Myopia
OMIM:616340	DIAPH1	1729	HP:0000360	Tinnitus
OMIM:616340	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:616340	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:616340	CEACAM16	388551	HP:0000360	Tinnitus
OMIM:616340	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:616340	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:616340	SLC17A8	246213	HP:0000360	Tinnitus
OMIM:616340	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:616340	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:616340	TJP2	9414	HP:0000360	Tinnitus
OMIM:616340	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:616340	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:616340	ACTG1	71	HP:0000360	Tinnitus
OMIM:616340	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:616340	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:616340	CCDC50	152137	HP:0000360	Tinnitus
OMIM:616340	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:616340	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:616340	MIR96	407053	HP:0000360	Tinnitus
OMIM:616340	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:616340	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:616340	GJB2	2706	HP:0000360	Tinnitus
OMIM:616340	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:616340	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:616340	POU4F3	5459	HP:0000360	Tinnitus
OMIM:616340	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:616340	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:616340	GJB3	2707	HP:0000360	Tinnitus
OMIM:616340	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:616340	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:616340	MYH9	4627	HP:0000360	Tinnitus
OMIM:616340	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:616340	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:616340	CRYM	1428	HP:0000360	Tinnitus
OMIM:616340	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:616340	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:616340	COL11A2	1302	HP:0000360	Tinnitus
OMIM:616340	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:616340	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:616340	EYA4	2070	HP:0000360	Tinnitus
OMIM:616340	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:616340	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:616340	DFNA5	1687	HP:0000360	Tinnitus
OMIM:616340	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:616340	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:616340	DIAPH3	81624	HP:0000360	Tinnitus
OMIM:616340	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:616340	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:616340	TMC1	117531	HP:0000360	Tinnitus
OMIM:616340	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:616340	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:616340	COCH	1690	HP:0000360	Tinnitus
OMIM:616340	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:616340	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:616340	OSBPL2	9885	HP:0000360	Tinnitus
OMIM:616340	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:616340	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:616340	SIX1	6495	HP:0000360	Tinnitus
OMIM:616340	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:616340	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:616340	TECTA	7007	HP:0000360	Tinnitus
OMIM:616340	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:616340	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:616340	MYO1A	4640	HP:0000360	Tinnitus
OMIM:616340	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:616340	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:616340	MYO1C	4641	HP:0000360	Tinnitus
OMIM:616340	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:616340	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:616340	MYO6	4646	HP:0000360	Tinnitus
OMIM:616340	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:616340	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:616340	MYO7A	4647	HP:0000360	Tinnitus
OMIM:616340	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:616340	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:616340	GRHL2	79977	HP:0000360	Tinnitus
OMIM:616340	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:616340	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:616340	DIABLO	56616	HP:0000360	Tinnitus
OMIM:616340	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:616340	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:616340	MYH14	79784	HP:0000360	Tinnitus
OMIM:616340	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:616340	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:616340	P2RX2	22953	HP:0000360	Tinnitus
OMIM:616340	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:616340	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:616340	WFS1	7466	HP:0000360	Tinnitus
OMIM:616340	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:616340	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:616340	TNC	3371	HP:0000360	Tinnitus
OMIM:616340	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:616340	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:616340	KCNQ4	9132	HP:0000360	Tinnitus
OMIM:616340	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:616340	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:616340	HOMER2	9455	HP:0000360	Tinnitus
OMIM:616340	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:616340	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:616340	GJB6	10804	HP:0000360	Tinnitus
OMIM:616340	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:616340	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:616340	TBC1D24	57465	HP:0000360	Tinnitus
OMIM:616340	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:616340	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:300818	PIGA	5277	HP:0001428	Somatic mutation
OMIM:184500	KRT17	3872	HP:0000787	Nephrolithiasis
OMIM:184500	KRT17	3872	HP:0000006	Autosomal dominant inheritance
OMIM:157300	TNF	7124	HP:0000613	Photophobia
OMIM:157300	TNF	7124	HP:0002018	Nausea
OMIM:157300	TNF	7124	HP:0000006	Autosomal dominant inheritance
OMIM:157300	TNF	7124	HP:0002183	Phonophobia
OMIM:157300	TNF	7124	HP:0002013	Vomiting
ORPHANET:47	BTK	695	HP:0001874	Abnormality of neutrophils
ORPHANET:47	BTK	695	HP:0004322	Short stature
ORPHANET:47	BTK	695	HP:0001824	Weight loss
ORPHANET:47	BTK	695	HP:0100838	Recurrent cutaneous abscess formation
ORPHANET:47	BTK	695	HP:0002205	Recurrent respiratory infections
ORPHANET:47	BTK	695	HP:0100806	Sepsis
ORPHANET:47	BTK	695	HP:0001903	Anemia
ORPHANET:47	BTK	695	HP:0002014	Diarrhea
ORPHANET:47	BTK	695	HP:0200042	Skin ulcer
ORPHANET:47	BTK	695	HP:0001392	Abnormality of the liver
ORPHANET:47	BTK	695	HP:0004370	Abnormality of temperature regulation
ORPHANET:47	BTK	695	HP:0002960	Autoimmunity
ORPHANET:47	BTK	695	HP:0100658	Cellulitis
ORPHANET:47	BTK	695	HP:0000388	Otitis media
ORPHANET:47	BTK	695	HP:0001053	Hypopigmented skin patches
ORPHANET:47	BTK	695	HP:0001369	Arthritis
ORPHANET:47	BTK	695	HP:0002024	Malabsorption
ORPHANET:47	BTK	695	HP:0004313	Decreased antibody level in blood
ORPHANET:47	BTK	695	HP:0000988	Skin rash
ORPHANET:47	BTK	695	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:47	BTK	695	HP:0001287	Meningitis
ORPHANET:47	BTK	695	HP:0000246	Sinusitis
ORPHANET:47	BTK	695	HP:0001596	Alopecia
ORPHANET:47	BTK	695	HP:0001873	Thrombocytopenia
ORPHANET:47	BTK	695	HP:0002754	Osteomyelitis
ORPHANET:950	PRKAR1A	5573	HP:0009830	Peripheral neuropathy
ORPHANET:950	PRKAR1A	5573	HP:0002997	Abnormality of the ulna
ORPHANET:950	PRKAR1A	5573	HP:0000689	Dental malocclusion
ORPHANET:950	PRKAR1A	5573	HP:0004322	Short stature
ORPHANET:950	PRKAR1A	5573	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:950	PRKAR1A	5573	HP:0003196	Short nose
ORPHANET:950	PRKAR1A	5573	HP:0005616	Accelerated skeletal maturation
ORPHANET:950	PRKAR1A	5573	HP:0000303	Mandibular prognathia
ORPHANET:950	PRKAR1A	5573	HP:0001831	Short toe
ORPHANET:950	PRKAR1A	5573	HP:0000684	Delayed eruption of teeth
ORPHANET:950	PRKAR1A	5573	HP:0000995	Melanocytic nevus
ORPHANET:950	PRKAR1A	5573	HP:0003416	Spinal canal stenosis
ORPHANET:950	PRKAR1A	5573	HP:0000028	Cryptorchidism
ORPHANET:950	PRKAR1A	5573	HP:0002983	Micromelia
ORPHANET:950	PRKAR1A	5573	HP:0005280	Depressed nasal bridge
ORPHANET:950	PRKAR1A	5573	HP:0000272	Malar flattening
ORPHANET:950	PRKAR1A	5573	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:950	PRKAR1A	5573	HP:0000055	Abnormality of female external genitalia
ORPHANET:950	PRKAR1A	5573	HP:0001156	Brachydactyly syndrome
ORPHANET:950	PRKAR1A	5573	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:950	PRKAR1A	5573	HP:0001597	Abnormality of the nail
ORPHANET:950	PRKAR1A	5573	HP:0000316	Hypertelorism
ORPHANET:950	PRKAR1A	5573	HP:0000286	Epicanthus
ORPHANET:950	PRKAR1A	5573	HP:0010579	Cone-shaped epiphysis
ORPHANET:950	PRKAR1A	5573	HP:0100543	Cognitive impairment
ORPHANET:950	PRKAR1A	5573	HP:0000463	Anteverted nares
ORPHANET:950	PRKAR1A	5573	HP:0000365	Hearing impairment
ORPHANET:950	PRKAR1A	5573	HP:0000457	Depressed nasal ridge
ORPHANET:950	PRKAR1A	5573	HP:0000194	Open mouth
ORPHANET:950	PRKAR1A	5573	HP:0009924	Aplasia/Hypoplasia involving the nose
ORPHANET:950	PRKAR1A	5573	HP:0002648	Abnormality of calvarial morphology
ORPHANET:950	PRKAR1A	5573	HP:0010978	Abnormality of immune system physiology
ORPHANET:950	PDE4D	5144	HP:0009830	Peripheral neuropathy
ORPHANET:950	PDE4D	5144	HP:0002997	Abnormality of the ulna
ORPHANET:950	PDE4D	5144	HP:0000689	Dental malocclusion
ORPHANET:950	PDE4D	5144	HP:0004322	Short stature
ORPHANET:950	PDE4D	5144	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:950	PDE4D	5144	HP:0003196	Short nose
ORPHANET:950	PDE4D	5144	HP:0005616	Accelerated skeletal maturation
ORPHANET:950	PDE4D	5144	HP:0000303	Mandibular prognathia
ORPHANET:950	PDE4D	5144	HP:0001831	Short toe
ORPHANET:950	PDE4D	5144	HP:0000684	Delayed eruption of teeth
ORPHANET:950	PDE4D	5144	HP:0000995	Melanocytic nevus
ORPHANET:950	PDE4D	5144	HP:0003416	Spinal canal stenosis
ORPHANET:950	PDE4D	5144	HP:0000028	Cryptorchidism
ORPHANET:950	PDE4D	5144	HP:0002983	Micromelia
ORPHANET:950	PDE4D	5144	HP:0005280	Depressed nasal bridge
ORPHANET:950	PDE4D	5144	HP:0000272	Malar flattening
ORPHANET:950	PDE4D	5144	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:950	PDE4D	5144	HP:0000055	Abnormality of female external genitalia
ORPHANET:950	PDE4D	5144	HP:0001156	Brachydactyly syndrome
ORPHANET:950	PDE4D	5144	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:950	PDE4D	5144	HP:0001597	Abnormality of the nail
ORPHANET:950	PDE4D	5144	HP:0000316	Hypertelorism
ORPHANET:950	PDE4D	5144	HP:0000286	Epicanthus
ORPHANET:950	PDE4D	5144	HP:0010579	Cone-shaped epiphysis
ORPHANET:950	PDE4D	5144	HP:0100543	Cognitive impairment
ORPHANET:950	PDE4D	5144	HP:0000463	Anteverted nares
ORPHANET:950	PDE4D	5144	HP:0000365	Hearing impairment
ORPHANET:950	PDE4D	5144	HP:0000457	Depressed nasal ridge
ORPHANET:950	PDE4D	5144	HP:0000194	Open mouth
ORPHANET:950	PDE4D	5144	HP:0009924	Aplasia/Hypoplasia involving the nose
ORPHANET:950	PDE4D	5144	HP:0002648	Abnormality of calvarial morphology
ORPHANET:950	PDE4D	5144	HP:0010978	Abnormality of immune system physiology
OMIM:259770	LRP5	4041	HP:0000252	Microcephaly
OMIM:259770	LRP5	4041	HP:0004322	Short stature
OMIM:259770	LRP5	4041	HP:0003312	Abnormal form of the vertebral bodies
OMIM:259770	LRP5	4041	HP:0000939	Osteoporosis
OMIM:259770	LRP5	4041	HP:0011362	Abnormal hair quantity
OMIM:259770	LRP5	4041	HP:0001382	Joint hypermobility
OMIM:259770	LRP5	4041	HP:0002808	Kyphosis
OMIM:259770	LRP5	4041	HP:0003016	Metaphyseal widening
OMIM:259770	LRP5	4041	HP:0001629	Ventricular septal defect
OMIM:259770	LRP5	4041	HP:0000568	Microphthalmia
OMIM:259770	LRP5	4041	HP:0006487	Bowing of the long bones
OMIM:259770	LRP5	4041	HP:0000347	Micrognathia
OMIM:259770	LRP5	4041	HP:0000926	Platyspondyly
OMIM:259770	LRP5	4041	HP:0000615	Abnormality of the pupil
OMIM:259770	LRP5	4041	HP:0000648	Optic atrophy
OMIM:259770	LRP5	4041	HP:0009733	Glioma
OMIM:259770	LRP5	4041	HP:0100543	Cognitive impairment
OMIM:259770	LRP5	4041	HP:0001252	Muscular hypotonia
OMIM:259770	LRP5	4041	HP:0002757	Recurrent fractures
OMIM:259770	LRP5	4041	HP:0000518	Cataract
OMIM:259770	LRP5	4041	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:259770	LRP5	4041	HP:0000505	Visual impairment
OMIM:259770	LRP5	4041	HP:0001552	Barrel-shaped chest
OMIM:259770	LRP5	4041	HP:0002756	Pathologic fracture
OMIM:259770	LRP5	4041	HP:0000007	Autosomal recessive inheritance
OMIM:259770	LRP5	4041	HP:0002162	Low posterior hairline
OMIM:259770	LRP5	4041	HP:0005280	Depressed nasal bridge
OMIM:259770	LRP5	4041	HP:0001256	Intellectual disability, mild
OMIM:259770	LRP5	4041	HP:0002750	Delayed skeletal maturation
OMIM:259770	LRP5	4041	HP:0004349	Reduced bone mineral density
OMIM:259770	LRP5	4041	HP:0001513	Obesity
OMIM:259770	LRP5	4041	HP:0002751	Kyphoscoliosis
OMIM:259770	LRP5	4041	HP:0000618	Blindness
OMIM:264470	ACOX1	51	HP:0000639	Nystagmus
OMIM:264470	ACOX1	51	HP:0003593	Infantile onset
OMIM:264470	ACOX1	51	HP:0002376	Developmental regression
OMIM:264470	ACOX1	51	HP:0001276	Hypertonia
OMIM:264470	ACOX1	51	HP:0000368	Low-set, posteriorly rotated ears
OMIM:264470	ACOX1	51	HP:0000486	Strabismus
OMIM:264470	ACOX1	51	HP:0001250	Seizures
OMIM:264470	ACOX1	51	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:264470	ACOX1	51	HP:0002415	Leukodystrophy
OMIM:264470	ACOX1	51	HP:0002240	Hepatomegaly
OMIM:264470	ACOX1	51	HP:0001252	Muscular hypotonia
OMIM:264470	ACOX1	51	HP:0000431	Wide nasal bridge
OMIM:264470	ACOX1	51	HP:0000512	Abnormal electroretinogram
OMIM:264470	ACOX1	51	HP:0007305	CNS demyelination
OMIM:264470	ACOX1	51	HP:0005280	Depressed nasal bridge
OMIM:264470	ACOX1	51	HP:0002353	EEG abnormality
OMIM:264470	ACOX1	51	HP:0000248	Brachycephaly
OMIM:264470	ACOX1	51	HP:0100543	Cognitive impairment
OMIM:264470	ACOX1	51	HP:0001161	Hand polydactyly
OMIM:264470	ACOX1	51	HP:0001288	Gait disturbance
OMIM:264470	ACOX1	51	HP:0010864	Intellectual disability, severe
OMIM:264470	ACOX1	51	HP:0000648	Optic atrophy
OMIM:264470	ACOX1	51	HP:0011344	Severe global developmental delay
OMIM:264470	ACOX1	51	HP:0001332	Dystonia
OMIM:264470	ACOX1	51	HP:0002007	Frontal bossing
OMIM:264470	ACOX1	51	HP:0002910	Elevated hepatic transaminases
OMIM:264470	ACOX1	51	HP:0002015	Dysphagia
OMIM:264470	ACOX1	51	HP:0000007	Autosomal recessive inheritance
OMIM:264470	ACOX1	51	HP:0000369	Low-set ears
OMIM:264470	ACOX1	51	HP:0002093	Respiratory insufficiency
OMIM:264470	ACOX1	51	HP:0000407	Sensorineural hearing impairment
OMIM:264470	ACOX1	51	HP:0000545	Myopia
OMIM:264470	ACOX1	51	HP:0002167	Neurological speech impairment
OMIM:264470	ACOX1	51	HP:0000580	Pigmentary retinopathy
OMIM:264470	ACOX1	51	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:264470	ACOX1	51	HP:0000286	Epicanthus
OMIM:264470	ACOX1	51	HP:0002011	Morphological abnormality of the central nervous system
OMIM:264470	ACOX1	51	HP:0000737	Irritability
OMIM:264470	ACOX1	51	HP:0006887	Intellectual disability, progressive
OMIM:264470	ACOX1	51	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:264470	ACOX1	51	HP:0000316	Hypertelorism
OMIM:264470	ACOX1	51	HP:0000649	Abnormality of visual evoked potentials
OMIM:264470	ACOX1	51	HP:0003487	Babinski sign
OMIM:264470	ACOX1	51	HP:0001347	Hyperreflexia
OMIM:264470	ACOX1	51	HP:0001319	Neonatal hypotonia
OMIM:109400	PTCH2	8643	HP:0001166	Arachnodactyly
OMIM:109400	PTCH2	8643	HP:0000303	Mandibular prognathia
OMIM:109400	PTCH2	8643	HP:0001156	Brachydactyly syndrome
OMIM:109400	PTCH2	8643	HP:0000995	Melanocytic nevus
OMIM:109400	PTCH2	8643	HP:0000568	Microphthalmia
OMIM:109400	PTCH2	8643	HP:0000316	Hypertelorism
OMIM:109400	PTCH2	8643	HP:0002650	Scoliosis
OMIM:109400	PTCH2	8643	HP:0000982	Palmoplantar keratoderma
OMIM:109400	PTCH2	8643	HP:0000773	Short ribs
OMIM:109400	PTCH2	8643	HP:0000256	Macrocephaly
OMIM:109400	PTCH2	8643	HP:0000486	Strabismus
OMIM:109400	PTCH2	8643	HP:0004408	Abnormality of the sense of smell
OMIM:109400	PTCH2	8643	HP:0002937	Hemivertebrae
OMIM:109400	PTCH2	8643	HP:0000280	Coarse facial features
OMIM:109400	PTCH2	8643	HP:0000238	Hydrocephalus
OMIM:109400	PTCH2	8643	HP:0002797	Osteolysis
OMIM:109400	PTCH2	8643	HP:0000682	Abnormality of dental enamel
OMIM:109400	PTCH2	8643	HP:0006101	Finger syndactyly
OMIM:109400	PTCH2	8643	HP:0001163	Abnormality of the metacarpal bones
OMIM:109400	PTCH2	8643	HP:0002007	Frontal bossing
OMIM:109400	PTCH2	8643	HP:0000612	Iris coloboma
OMIM:109400	PTCH2	8643	HP:0000518	Cataract
OMIM:109400	PTCH2	8643	HP:0008069	Neoplasm of the skin
OMIM:109400	PTCH2	8643	HP:0000204	Cleft upper lip
OMIM:109400	PTCH2	8643	HP:0000506	Telecanthus
OMIM:109400	PTCH2	8643	HP:0005344	Abnormality of the carotid arteries
OMIM:109400	PTCH2	8643	HP:0000175	Cleft palate
OMIM:109400	PTCH2	8643	HP:0003828	Variable expressivity
OMIM:109400	PTCH2	8643	HP:0002885	Medulloblastoma
OMIM:109400	PTCH2	8643	HP:0002072	Chorea
OMIM:109400	PTCH2	8643	HP:0000464	Abnormality of the neck
OMIM:109400	PTCH2	8643	HP:0001425	Heterogeneous
OMIM:109400	PTCH2	8643	HP:0100543	Cognitive impairment
OMIM:109400	PTCH2	8643	HP:0000588	Optic nerve coloboma
OMIM:109400	PTCH2	8643	HP:0000766	Abnormality of the sternum
OMIM:109400	PTCH2	8643	HP:0000405	Conductive hearing impairment
OMIM:109400	PTCH2	8643	HP:0000147	Polycystic ovaries
OMIM:109400	PTCH2	8643	HP:0200042	Skin ulcer
OMIM:109400	PTCH2	8643	HP:0009733	Glioma
OMIM:109400	PTCH2	8643	HP:0200021	Down-sloping shoulders
OMIM:109400	PTCH2	8643	HP:0000431	Wide nasal bridge
OMIM:109400	PTCH2	8643	HP:0000505	Visual impairment
OMIM:109400	PTCH2	8643	HP:0100615	Ovarian neoplasm
OMIM:109400	PTCH2	8643	HP:0003312	Abnormal form of the vertebral bodies
OMIM:109400	PTCH2	8643	HP:0002751	Kyphoscoliosis
OMIM:109400	PTCH2	8643	HP:0000520	Proptosis
OMIM:109400	PTCH2	8643	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:109400	PTCH2	8643	HP:0002948	Vertebral fusion
OMIM:109400	PTCH2	8643	HP:0001270	Motor delay
OMIM:109400	PTCH2	8643	HP:0000772	Abnormality of the ribs
OMIM:109400	PTCH2	8643	HP:0000098	Tall stature
OMIM:109400	PTCH2	8643	HP:0000028	Cryptorchidism
OMIM:109400	PTCH2	8643	HP:0002414	Spina bifida
OMIM:109400	PTCH2	8643	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:109400	PTCH2	8643	HP:0002858	Meningioma
OMIM:109400	PTCH2	8643	HP:0000912	Sprengel anomaly
OMIM:109400	PTCH2	8643	HP:0003422	Vertebral segmentation defect
OMIM:109400	PTCH2	8643	HP:0200008	Intestinal polyposis
OMIM:109400	PTCH2	8643	HP:0000501	Glaucoma
OMIM:109400	PTCH2	8643	HP:0000670	Carious teeth
OMIM:109400	PTCH2	8643	HP:0000286	Epicanthus
OMIM:109400	PTCH2	8643	HP:0000107	Renal cyst
OMIM:109400	PTCH2	8643	HP:0001250	Seizures
OMIM:109400	PTCH2	8643	HP:0000202	Oral cleft
OMIM:109400	PTCH2	8643	HP:0000006	Autosomal dominant inheritance
OMIM:109400	PTCH2	8643	HP:0001249	Intellectual disability
OMIM:109400	PTCH2	8643	HP:0010442	Polydactyly
OMIM:109400	PTCH2	8643	HP:0010609	Skin tags
OMIM:109400	PTCH2	8643	HP:0100242	Sarcoma
OMIM:109400	PTCH2	8643	HP:0003298	Spina bifida occulta
OMIM:109400	PTCH2	8643	HP:0000639	Nystagmus
OMIM:109400	PTCH2	8643	HP:0010767	Sacrococcygeal pilonidal abnormality
OMIM:109400	PTCH2	8643	HP:0001161	Hand polydactyly
OMIM:109400	SUFU	51684	HP:0001166	Arachnodactyly
OMIM:109400	SUFU	51684	HP:0000303	Mandibular prognathia
OMIM:109400	SUFU	51684	HP:0001156	Brachydactyly syndrome
OMIM:109400	SUFU	51684	HP:0000995	Melanocytic nevus
OMIM:109400	SUFU	51684	HP:0000568	Microphthalmia
OMIM:109400	SUFU	51684	HP:0000316	Hypertelorism
OMIM:109400	SUFU	51684	HP:0002650	Scoliosis
OMIM:109400	SUFU	51684	HP:0000982	Palmoplantar keratoderma
OMIM:109400	SUFU	51684	HP:0000773	Short ribs
OMIM:109400	SUFU	51684	HP:0000256	Macrocephaly
OMIM:109400	SUFU	51684	HP:0000486	Strabismus
OMIM:109400	SUFU	51684	HP:0004408	Abnormality of the sense of smell
OMIM:109400	SUFU	51684	HP:0002937	Hemivertebrae
OMIM:109400	SUFU	51684	HP:0000280	Coarse facial features
OMIM:109400	SUFU	51684	HP:0000238	Hydrocephalus
OMIM:109400	SUFU	51684	HP:0002797	Osteolysis
OMIM:109400	SUFU	51684	HP:0000682	Abnormality of dental enamel
OMIM:109400	SUFU	51684	HP:0006101	Finger syndactyly
OMIM:109400	SUFU	51684	HP:0001163	Abnormality of the metacarpal bones
OMIM:109400	SUFU	51684	HP:0002007	Frontal bossing
OMIM:109400	SUFU	51684	HP:0000612	Iris coloboma
OMIM:109400	SUFU	51684	HP:0000518	Cataract
OMIM:109400	SUFU	51684	HP:0008069	Neoplasm of the skin
OMIM:109400	SUFU	51684	HP:0000204	Cleft upper lip
OMIM:109400	SUFU	51684	HP:0000506	Telecanthus
OMIM:109400	SUFU	51684	HP:0005344	Abnormality of the carotid arteries
OMIM:109400	SUFU	51684	HP:0000175	Cleft palate
OMIM:109400	SUFU	51684	HP:0003828	Variable expressivity
OMIM:109400	SUFU	51684	HP:0002885	Medulloblastoma
OMIM:109400	SUFU	51684	HP:0002072	Chorea
OMIM:109400	SUFU	51684	HP:0000464	Abnormality of the neck
OMIM:109400	SUFU	51684	HP:0001425	Heterogeneous
OMIM:109400	SUFU	51684	HP:0100543	Cognitive impairment
OMIM:109400	SUFU	51684	HP:0000588	Optic nerve coloboma
OMIM:109400	SUFU	51684	HP:0000766	Abnormality of the sternum
OMIM:109400	SUFU	51684	HP:0000405	Conductive hearing impairment
OMIM:109400	SUFU	51684	HP:0000147	Polycystic ovaries
OMIM:109400	SUFU	51684	HP:0200042	Skin ulcer
OMIM:109400	SUFU	51684	HP:0009733	Glioma
OMIM:109400	SUFU	51684	HP:0200021	Down-sloping shoulders
OMIM:109400	SUFU	51684	HP:0000431	Wide nasal bridge
OMIM:109400	SUFU	51684	HP:0000505	Visual impairment
OMIM:109400	SUFU	51684	HP:0100615	Ovarian neoplasm
OMIM:109400	SUFU	51684	HP:0003312	Abnormal form of the vertebral bodies
OMIM:109400	SUFU	51684	HP:0002751	Kyphoscoliosis
OMIM:109400	SUFU	51684	HP:0000520	Proptosis
OMIM:109400	SUFU	51684	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:109400	SUFU	51684	HP:0002948	Vertebral fusion
OMIM:109400	SUFU	51684	HP:0001270	Motor delay
OMIM:109400	SUFU	51684	HP:0000772	Abnormality of the ribs
OMIM:109400	SUFU	51684	HP:0000098	Tall stature
OMIM:109400	SUFU	51684	HP:0000028	Cryptorchidism
OMIM:109400	SUFU	51684	HP:0002414	Spina bifida
OMIM:109400	SUFU	51684	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:109400	SUFU	51684	HP:0002858	Meningioma
OMIM:109400	SUFU	51684	HP:0000912	Sprengel anomaly
OMIM:109400	SUFU	51684	HP:0003422	Vertebral segmentation defect
OMIM:109400	SUFU	51684	HP:0200008	Intestinal polyposis
OMIM:109400	SUFU	51684	HP:0000501	Glaucoma
OMIM:109400	SUFU	51684	HP:0000670	Carious teeth
OMIM:109400	SUFU	51684	HP:0000286	Epicanthus
OMIM:109400	SUFU	51684	HP:0000107	Renal cyst
OMIM:109400	SUFU	51684	HP:0001250	Seizures
OMIM:109400	SUFU	51684	HP:0000202	Oral cleft
OMIM:109400	SUFU	51684	HP:0000006	Autosomal dominant inheritance
OMIM:109400	SUFU	51684	HP:0001249	Intellectual disability
OMIM:109400	SUFU	51684	HP:0010442	Polydactyly
OMIM:109400	SUFU	51684	HP:0010609	Skin tags
OMIM:109400	SUFU	51684	HP:0100242	Sarcoma
OMIM:109400	SUFU	51684	HP:0003298	Spina bifida occulta
OMIM:109400	SUFU	51684	HP:0000639	Nystagmus
OMIM:109400	SUFU	51684	HP:0010767	Sacrococcygeal pilonidal abnormality
OMIM:109400	SUFU	51684	HP:0001161	Hand polydactyly
OMIM:109400	PTCH1	5727	HP:0001166	Arachnodactyly
OMIM:109400	PTCH1	5727	HP:0000303	Mandibular prognathia
OMIM:109400	PTCH1	5727	HP:0001156	Brachydactyly syndrome
OMIM:109400	PTCH1	5727	HP:0000995	Melanocytic nevus
OMIM:109400	PTCH1	5727	HP:0000568	Microphthalmia
OMIM:109400	PTCH1	5727	HP:0000316	Hypertelorism
OMIM:109400	PTCH1	5727	HP:0002650	Scoliosis
OMIM:109400	PTCH1	5727	HP:0000982	Palmoplantar keratoderma
OMIM:109400	PTCH1	5727	HP:0000773	Short ribs
OMIM:109400	PTCH1	5727	HP:0000256	Macrocephaly
OMIM:109400	PTCH1	5727	HP:0000486	Strabismus
OMIM:109400	PTCH1	5727	HP:0004408	Abnormality of the sense of smell
OMIM:109400	PTCH1	5727	HP:0002937	Hemivertebrae
OMIM:109400	PTCH1	5727	HP:0000280	Coarse facial features
OMIM:109400	PTCH1	5727	HP:0000238	Hydrocephalus
OMIM:109400	PTCH1	5727	HP:0002797	Osteolysis
OMIM:109400	PTCH1	5727	HP:0000682	Abnormality of dental enamel
OMIM:109400	PTCH1	5727	HP:0006101	Finger syndactyly
OMIM:109400	PTCH1	5727	HP:0001163	Abnormality of the metacarpal bones
OMIM:109400	PTCH1	5727	HP:0002007	Frontal bossing
OMIM:109400	PTCH1	5727	HP:0000612	Iris coloboma
OMIM:109400	PTCH1	5727	HP:0000518	Cataract
OMIM:109400	PTCH1	5727	HP:0008069	Neoplasm of the skin
OMIM:109400	PTCH1	5727	HP:0000204	Cleft upper lip
OMIM:109400	PTCH1	5727	HP:0000506	Telecanthus
OMIM:109400	PTCH1	5727	HP:0005344	Abnormality of the carotid arteries
OMIM:109400	PTCH1	5727	HP:0000175	Cleft palate
OMIM:109400	PTCH1	5727	HP:0003828	Variable expressivity
OMIM:109400	PTCH1	5727	HP:0002885	Medulloblastoma
OMIM:109400	PTCH1	5727	HP:0002072	Chorea
OMIM:109400	PTCH1	5727	HP:0000464	Abnormality of the neck
OMIM:109400	PTCH1	5727	HP:0001425	Heterogeneous
OMIM:109400	PTCH1	5727	HP:0100543	Cognitive impairment
OMIM:109400	PTCH1	5727	HP:0000588	Optic nerve coloboma
OMIM:109400	PTCH1	5727	HP:0000766	Abnormality of the sternum
OMIM:109400	PTCH1	5727	HP:0000405	Conductive hearing impairment
OMIM:109400	PTCH1	5727	HP:0000147	Polycystic ovaries
OMIM:109400	PTCH1	5727	HP:0200042	Skin ulcer
OMIM:109400	PTCH1	5727	HP:0009733	Glioma
OMIM:109400	PTCH1	5727	HP:0200021	Down-sloping shoulders
OMIM:109400	PTCH1	5727	HP:0000431	Wide nasal bridge
OMIM:109400	PTCH1	5727	HP:0000505	Visual impairment
OMIM:109400	PTCH1	5727	HP:0100615	Ovarian neoplasm
OMIM:109400	PTCH1	5727	HP:0003312	Abnormal form of the vertebral bodies
OMIM:109400	PTCH1	5727	HP:0002751	Kyphoscoliosis
OMIM:109400	PTCH1	5727	HP:0000520	Proptosis
OMIM:109400	PTCH1	5727	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:109400	PTCH1	5727	HP:0002948	Vertebral fusion
OMIM:109400	PTCH1	5727	HP:0001270	Motor delay
OMIM:109400	PTCH1	5727	HP:0000772	Abnormality of the ribs
OMIM:109400	PTCH1	5727	HP:0000098	Tall stature
OMIM:109400	PTCH1	5727	HP:0000028	Cryptorchidism
OMIM:109400	PTCH1	5727	HP:0002414	Spina bifida
OMIM:109400	PTCH1	5727	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:109400	PTCH1	5727	HP:0002858	Meningioma
OMIM:109400	PTCH1	5727	HP:0000912	Sprengel anomaly
OMIM:109400	PTCH1	5727	HP:0003422	Vertebral segmentation defect
OMIM:109400	PTCH1	5727	HP:0200008	Intestinal polyposis
OMIM:109400	PTCH1	5727	HP:0000501	Glaucoma
OMIM:109400	PTCH1	5727	HP:0000670	Carious teeth
OMIM:109400	PTCH1	5727	HP:0000286	Epicanthus
OMIM:109400	PTCH1	5727	HP:0000107	Renal cyst
OMIM:109400	PTCH1	5727	HP:0001250	Seizures
OMIM:109400	PTCH1	5727	HP:0000202	Oral cleft
OMIM:109400	PTCH1	5727	HP:0000006	Autosomal dominant inheritance
OMIM:109400	PTCH1	5727	HP:0001249	Intellectual disability
OMIM:109400	PTCH1	5727	HP:0010442	Polydactyly
OMIM:109400	PTCH1	5727	HP:0010609	Skin tags
OMIM:109400	PTCH1	5727	HP:0100242	Sarcoma
OMIM:109400	PTCH1	5727	HP:0003298	Spina bifida occulta
OMIM:109400	PTCH1	5727	HP:0000639	Nystagmus
OMIM:109400	PTCH1	5727	HP:0010767	Sacrococcygeal pilonidal abnormality
OMIM:109400	PTCH1	5727	HP:0001161	Hand polydactyly
OMIM:230000	FUCA1	2517	HP:0002205	Recurrent respiratory infections
OMIM:230000	FUCA1	2517	HP:0007759	Opacification of the corneal stroma
OMIM:230000	FUCA1	2517	HP:0100543	Cognitive impairment
OMIM:230000	FUCA1	2517	HP:0000958	Dry skin
OMIM:230000	FUCA1	2517	HP:0000943	Dysostosis multiplex
OMIM:230000	FUCA1	2517	HP:0002510	Spastic tetraplegia
OMIM:230000	FUCA1	2517	HP:0001744	Splenomegaly
OMIM:230000	FUCA1	2517	HP:0001640	Cardiomegaly
OMIM:230000	FUCA1	2517	HP:0011220	Prominent forehead
OMIM:230000	FUCA1	2517	HP:0000316	Hypertelorism
OMIM:230000	FUCA1	2517	HP:0000574	Thick eyebrow
OMIM:230000	FUCA1	2517	HP:0003202	Skeletal muscle atrophy
OMIM:230000	FUCA1	2517	HP:0005264	Abnormality of the gallbladder
OMIM:230000	FUCA1	2517	HP:0000962	Hyperkeratosis
OMIM:230000	FUCA1	2517	HP:0000975	Hyperhidrosis
OMIM:230000	FUCA1	2517	HP:0002007	Frontal bossing
OMIM:230000	FUCA1	2517	HP:0000970	Anhidrosis
OMIM:230000	FUCA1	2517	HP:0004322	Short stature
OMIM:230000	FUCA1	2517	HP:0001597	Abnormality of the nail
OMIM:230000	FUCA1	2517	HP:0004298	Abnormality of the abdominal wall
OMIM:230000	FUCA1	2517	HP:0000280	Coarse facial features
OMIM:230000	FUCA1	2517	HP:0001552	Barrel-shaped chest
OMIM:230000	FUCA1	2517	HP:0000007	Autosomal recessive inheritance
OMIM:230000	FUCA1	2517	HP:0000179	Thick lower lip vermilion
OMIM:230000	FUCA1	2517	HP:0002240	Hepatomegaly
OMIM:230000	FUCA1	2517	HP:0001249	Intellectual disability
OMIM:230000	FUCA1	2517	HP:0000445	Wide nose
OMIM:230000	FUCA1	2517	HP:0100790	Hernia
OMIM:230000	FUCA1	2517	HP:0000365	Hearing impairment
OMIM:230000	FUCA1	2517	HP:0007256	Abnormal pyramidal signs
OMIM:230000	FUCA1	2517	HP:0000914	Shield chest
OMIM:230000	FUCA1	2517	HP:0000164	Abnormality of the teeth
OMIM:230000	FUCA1	2517	HP:0008155	Mucopolysacchariduria
OMIM:230000	FUCA1	2517	HP:0000821	Hypothyroidism
OMIM:230000	FUCA1	2517	HP:0002059	Cerebral atrophy
OMIM:230000	FUCA1	2517	HP:0002652	Skeletal dysplasia
OMIM:230000	FUCA1	2517	HP:0000158	Macroglossia
OMIM:230000	FUCA1	2517	HP:0001063	Acrocyanosis
OMIM:230000	FUCA1	2517	HP:0001276	Hypertonia
OMIM:230000	FUCA1	2517	HP:0002808	Kyphosis
OMIM:230000	FUCA1	2517	HP:0001250	Seizures
OMIM:230000	FUCA1	2517	HP:0001371	Flexion contracture
OMIM:230000	FUCA1	2517	HP:0100578	Lipoatrophy
OMIM:230000	FUCA1	2517	HP:0004374	Hemiplegia/hemiparesis
OMIM:230000	FUCA1	2517	HP:0002650	Scoliosis
OMIM:230000	FUCA1	2517	HP:0001271	Polyneuropathy
OMIM:230000	FUCA1	2517	HP:0001252	Muscular hypotonia
OMIM:230000	FUCA1	2517	HP:0002673	Coxa valga
OMIM:230000	FUCA1	2517	HP:0002938	Lumbar hyperlordosis
ORPHANET:3221	THRB	7068	HP:0000820	Abnormality of the thyroid gland
ORPHANET:3221	THRB	7068	HP:0000407	Sensorineural hearing impairment
ORPHANET:3221	THRB	7068	HP:0002750	Delayed skeletal maturation
ORPHANET:3221	THRB	7068	HP:0000912	Sprengel anomaly
ORPHANET:3221	THRB	7068	HP:0000768	Pectus carinatum
ORPHANET:3221	THRB	7068	HP:0010655	Epiphyseal stippling
ORPHANET:3221	THRB	7068	HP:0000444	Convex nasal ridge
OMIM:601005	CACNA1C	775	HP:0001159	Syndactyly
OMIM:601005	CACNA1C	775	HP:0001657	Prolonged QT interval
OMIM:601005	CACNA1C	775	HP:0001699	Sudden death
OMIM:105210	TTR	7276	HP:0000726	Dementia
OMIM:105210	TTR	7276	HP:0000020	Urinary incontinence
OMIM:105210	TTR	7276	HP:0001260	Dysarthria
OMIM:105210	TTR	7276	HP:0001640	Cardiomegaly
OMIM:105210	TTR	7276	HP:0001271	Polyneuropathy
OMIM:105210	TTR	7276	HP:0003477	Peripheral axonal neuropathy
OMIM:105210	TTR	7276	HP:0001638	Cardiomyopathy
OMIM:105210	TTR	7276	HP:0002315	Headache
OMIM:105210	TTR	7276	HP:0010550	Paraplegia
OMIM:105210	TTR	7276	HP:0001250	Seizures
OMIM:105210	TTR	7276	HP:0000639	Nystagmus
OMIM:105210	TTR	7276	HP:0003676	Progressive
OMIM:105210	TTR	7276	HP:0001257	Spasticity
OMIM:105210	TTR	7276	HP:0002019	Constipation
OMIM:105210	TTR	7276	HP:0002014	Diarrhea
OMIM:105210	TTR	7276	HP:0003812	Phenotypic variability
OMIM:105210	TTR	7276	HP:0000006	Autosomal dominant inheritance
OMIM:105210	TTR	7276	HP:0001265	Hyporeflexia
OMIM:105210	TTR	7276	HP:0000505	Visual impairment
OMIM:105210	TTR	7276	HP:0002922	Increased CSF protein
OMIM:105210	TTR	7276	HP:0001251	Ataxia
OMIM:105210	TTR	7276	HP:0003581	Adult onset
OMIM:105210	TTR	7276	HP:0000365	Hearing impairment
OMIM:105210	TTR	7276	HP:0001324	Muscle weakness
OMIM:105210	TTR	7276	HP:0011034	Amyloidosis
OMIM:105210	TTR	7276	HP:0001337	Tremor
OMIM:225300	BTRC	8945	HP:0003829	Incomplete penetrance
OMIM:225300	BTRC	8945	HP:0000007	Autosomal recessive inheritance
OMIM:225300	BTRC	8945	HP:0006101	Finger syndactyly
OMIM:225300	BTRC	8945	HP:0001171	Split hand
OMIM:225300	BTRC	8945	HP:0001770	Toe syndactyly
OMIM:225300	TP63	8626	HP:0003829	Incomplete penetrance
OMIM:225300	TP63	8626	HP:0000007	Autosomal recessive inheritance
OMIM:225300	TP63	8626	HP:0006101	Finger syndactyly
OMIM:225300	TP63	8626	HP:0001171	Split hand
OMIM:225300	TP63	8626	HP:0001770	Toe syndactyly
OMIM:225300	FBXW4	6468	HP:0003829	Incomplete penetrance
OMIM:225300	FBXW4	6468	HP:0000007	Autosomal recessive inheritance
OMIM:225300	FBXW4	6468	HP:0006101	Finger syndactyly
OMIM:225300	FBXW4	6468	HP:0001171	Split hand
OMIM:225300	FBXW4	6468	HP:0001770	Toe syndactyly
OMIM:225300	DLX5	1749	HP:0003829	Incomplete penetrance
OMIM:225300	DLX5	1749	HP:0000007	Autosomal recessive inheritance
OMIM:225300	DLX5	1749	HP:0006101	Finger syndactyly
OMIM:225300	DLX5	1749	HP:0001171	Split hand
OMIM:225300	DLX5	1749	HP:0001770	Toe syndactyly
OMIM:225300	WNT10B	7480	HP:0003829	Incomplete penetrance
OMIM:225300	WNT10B	7480	HP:0000007	Autosomal recessive inheritance
OMIM:225300	WNT10B	7480	HP:0006101	Finger syndactyly
OMIM:225300	WNT10B	7480	HP:0001171	Split hand
OMIM:225300	WNT10B	7480	HP:0001770	Toe syndactyly
OMIM:225300	SHFM1	7979	HP:0003829	Incomplete penetrance
OMIM:225300	SHFM1	7979	HP:0000007	Autosomal recessive inheritance
OMIM:225300	SHFM1	7979	HP:0006101	Finger syndactyly
OMIM:225300	SHFM1	7979	HP:0001171	Split hand
OMIM:225300	SHFM1	7979	HP:0001770	Toe syndactyly
ORPHANET:97927	THRA	7067	HP:0002360	Sleep disturbance
ORPHANET:97927	THRA	7067	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:97927	THRA	7067	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:97927	THRA	7067	HP:0000280	Coarse facial features
ORPHANET:97927	THRA	7067	HP:0001392	Abnormality of the liver
ORPHANET:97927	THRA	7067	HP:0000157	Abnormality of the tongue
ORPHANET:97927	THRA	7067	HP:0001537	Umbilical hernia
ORPHANET:97927	THRA	7067	HP:0001252	Muscular hypotonia
ORPHANET:97927	THRA	7067	HP:0000821	Hypothyroidism
ORPHANET:97927	THRA	7067	HP:0002019	Constipation
ORPHANET:97927	THRB	7068	HP:0002360	Sleep disturbance
ORPHANET:97927	THRB	7068	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:97927	THRB	7068	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:97927	THRB	7068	HP:0000280	Coarse facial features
ORPHANET:97927	THRB	7068	HP:0001392	Abnormality of the liver
ORPHANET:97927	THRB	7068	HP:0000157	Abnormality of the tongue
ORPHANET:97927	THRB	7068	HP:0001537	Umbilical hernia
ORPHANET:97927	THRB	7068	HP:0001252	Muscular hypotonia
ORPHANET:97927	THRB	7068	HP:0000821	Hypothyroidism
ORPHANET:97927	THRB	7068	HP:0002019	Constipation
OMIM:263800	CLCNKB	1188	HP:0003621	Juvenile onset
OMIM:263800	CLCNKB	1188	HP:0000007	Autosomal recessive inheritance
OMIM:263800	CLCNKB	1188	HP:0001281	Tetany
OMIM:263800	CLCNKB	1188	HP:0005567	Renal magnesium wasting
OMIM:263800	CLCNKB	1188	HP:0001250	Seizures
OMIM:263800	CLCNKB	1188	HP:0003401	Paresthesia
OMIM:263800	CLCNKB	1188	HP:0000934	Chondrocalcinosis
OMIM:263800	CLCNKB	1188	HP:0003324	Generalized muscle weakness
OMIM:263800	CLCNKB	1188	HP:0002027	Abdominal pain
OMIM:263800	CLCNKB	1188	HP:0003470	Paralysis
OMIM:263800	CLCNKB	1188	HP:0003394	Muscle cramps
OMIM:263800	SLC12A3	6559	HP:0003621	Juvenile onset
OMIM:263800	SLC12A3	6559	HP:0000007	Autosomal recessive inheritance
OMIM:263800	SLC12A3	6559	HP:0001281	Tetany
OMIM:263800	SLC12A3	6559	HP:0005567	Renal magnesium wasting
OMIM:263800	SLC12A3	6559	HP:0001250	Seizures
OMIM:263800	SLC12A3	6559	HP:0003401	Paresthesia
OMIM:263800	SLC12A3	6559	HP:0000934	Chondrocalcinosis
OMIM:263800	SLC12A3	6559	HP:0003324	Generalized muscle weakness
OMIM:263800	SLC12A3	6559	HP:0002027	Abdominal pain
OMIM:263800	SLC12A3	6559	HP:0003470	Paralysis
OMIM:263800	SLC12A3	6559	HP:0003394	Muscle cramps
OMIM:609460	KIF1BP	26128	HP:0000431	Wide nasal bridge
OMIM:609460	KIF1BP	26128	HP:0200055	Small hand
OMIM:609460	KIF1BP	26128	HP:0000400	Macrotia
OMIM:609460	KIF1BP	26128	HP:0000485	Megalocornea
OMIM:609460	KIF1BP	26128	HP:0002269	Abnormality of neuronal migration
OMIM:609460	KIF1BP	26128	HP:0000316	Hypertelorism
OMIM:609460	KIF1BP	26128	HP:0002251	Aganglionic megacolon
OMIM:609460	KIF1BP	26128	HP:0006101	Finger syndactyly
OMIM:609460	KIF1BP	26128	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:609460	KIF1BP	26128	HP:0000508	Ptosis
OMIM:609460	KIF1BP	26128	HP:0000664	Synophrys
OMIM:609460	KIF1BP	26128	HP:0100543	Cognitive impairment
OMIM:609460	KIF1BP	26128	HP:0000340	Sloping forehead
OMIM:609460	KIF1BP	26128	HP:0000369	Low-set ears
OMIM:609460	KIF1BP	26128	HP:0000252	Microcephaly
OMIM:609460	KIF1BP	26128	HP:0001252	Muscular hypotonia
OMIM:609460	KIF1BP	26128	HP:0000322	Short philtrum
OMIM:609460	KIF1BP	26128	HP:0001302	Pachygyria
OMIM:609460	KIF1BP	26128	HP:0001182	Tapered finger
OMIM:609460	KIF1BP	26128	HP:0001263	Global developmental delay
OMIM:609460	KIF1BP	26128	HP:0002120	Cerebral cortical atrophy
OMIM:609460	KIF1BP	26128	HP:0000592	Blue sclerae
OMIM:609460	KIF1BP	26128	HP:0001249	Intellectual disability
OMIM:609460	KIF1BP	26128	HP:0000327	Hypoplasia of the maxilla
OMIM:609460	KIF1BP	26128	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:609460	KIF1BP	26128	HP:0012471	Thick vermilion border
OMIM:609460	KIF1BP	26128	HP:0004322	Short stature
OMIM:609460	KIF1BP	26128	HP:0030084	Clinodactyly
OMIM:609460	KIF1BP	26128	HP:0001250	Seizures
OMIM:609460	KIF1BP	26128	HP:0000307	Pointed chin
OMIM:609460	KIF1BP	26128	HP:0002119	Ventriculomegaly
OMIM:609460	KIF1BP	26128	HP:0002553	Highly arched eyebrow
OMIM:609460	KIF1BP	26128	HP:0000494	Downslanted palpebral fissures
OMIM:609460	KIF1BP	26128	HP:0000007	Autosomal recessive inheritance
OMIM:609460	KIF1BP	26128	HP:0000574	Thick eyebrow
OMIM:609460	KIF1BP	26128	HP:0000612	Iris coloboma
OMIM:609460	KIF1BP	26128	HP:0002365	Hypoplasia of the brainstem
OMIM:609460	KIF1BP	26128	HP:0008070	Sparse hair
OMIM:609460	KIF1BP	26128	HP:0000232	Everted lower lip vermilion
OMIM:609460	KIF1BP	26128	HP:0002079	Hypoplasia of the corpus callosum
OMIM:609460	KIF1BP	26128	HP:0000506	Telecanthus
OMIM:609460	KIF1BP	26128	HP:0002126	Polymicrogyria
OMIM:609460	KIF1BP	26128	HP:0000470	Short neck
OMIM:609460	KIF1BP	26128	HP:0011362	Abnormal hair quantity
OMIM:609460	KIF1BP	26128	HP:0100627	Displacement of the external urethral meatus
OMIM:609460	KIF1BP	26128	HP:0000175	Cleft palate
OMIM:609460	KIF1BP	26128	HP:0000414	Bulbous nose
OMIM:609460	KIF1BP	26128	HP:0000426	Prominent nasal bridge
OMIM:609460	KIF1BP	26128	HP:0006610	Wide intermamillary distance
OMIM:220600	DLX5	1749	HP:0000007	Autosomal recessive inheritance
OMIM:220600	DLX5	1749	HP:0001171	Split hand
OMIM:220600	DLX5	1749	HP:0001182	Tapered finger
OMIM:220600	DLX5	1749	HP:0003510	Severe short stature
OMIM:220600	DLX5	1749	HP:0002650	Scoliosis
OMIM:220600	DLX5	1749	HP:0000407	Sensorineural hearing impairment
OMIM:220600	DLX5	1749	HP:0001597	Abnormality of the nail
OMIM:614898	VPS37A	137492	HP:0000007	Autosomal recessive inheritance
OMIM:614898	VPS37A	137492	HP:0002169	Clonus
OMIM:614898	VPS37A	137492	HP:0000768	Pectus carinatum
OMIM:614898	VPS37A	137492	HP:0001332	Dystonia
OMIM:614898	VPS37A	137492	HP:0001288	Gait disturbance
OMIM:614898	VPS37A	137492	HP:0001258	Spastic paraplegia
OMIM:614898	VPS37A	137492	HP:0001263	Global developmental delay
OMIM:614898	VPS37A	137492	HP:0000750	Delayed speech and language development
OMIM:614898	VPS37A	137492	HP:0002808	Kyphosis
OMIM:602014	TRPM6	140803	HP:0001281	Tetany
OMIM:602014	TRPM6	140803	HP:0003593	Infantile onset
OMIM:602014	TRPM6	140803	HP:0000007	Autosomal recessive inheritance
OMIM:602014	TRPM6	140803	HP:0002901	Hypocalcemia
OMIM:602014	TRPM6	140803	HP:0001250	Seizures
OMIM:606072	CAV3	859	HP:0003581	Adult onset
OMIM:606072	CAV3	859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606072	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:606072	CAV3	859	HP:0003457	EMG abnormality
OMIM:606072	CAV3	859	HP:0003710	Exercise-induced muscle cramps
OMIM:606072	CAV3	859	HP:0003712	Skeletal muscle hypertrophy
OMIM:213980	TMCO1	54499	HP:0001270	Motor delay
OMIM:213980	TMCO1	54499	HP:0000341	Narrow forehead
OMIM:213980	TMCO1	54499	HP:0000368	Low-set, posteriorly rotated ears
OMIM:213980	TMCO1	54499	HP:0000256	Macrocephaly
OMIM:213980	TMCO1	54499	HP:0011504	Bull's eye maculopathy
OMIM:213980	TMCO1	54499	HP:0000175	Cleft palate
OMIM:213980	TMCO1	54499	HP:0000486	Strabismus
OMIM:213980	TMCO1	54499	HP:0002937	Hemivertebrae
OMIM:213980	TMCO1	54499	HP:0000470	Short neck
OMIM:213980	TMCO1	54499	HP:0000494	Downslanted palpebral fissures
OMIM:213980	TMCO1	54499	HP:0007018	Attention deficit hyperactivity disorder
OMIM:213980	TMCO1	54499	HP:0000316	Hypertelorism
OMIM:213980	TMCO1	54499	HP:0001382	Joint hypermobility
OMIM:213980	TMCO1	54499	HP:0001162	Postaxial hand polydactyly
OMIM:213980	TMCO1	54499	HP:0000535	Sparse eyebrow
OMIM:213980	TMCO1	54499	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:213980	TMCO1	54499	HP:0002648	Abnormality of calvarial morphology
OMIM:213980	TMCO1	54499	HP:0001643	Patent ductus arteriosus
OMIM:213980	TMCO1	54499	HP:0004322	Short stature
OMIM:213980	TMCO1	54499	HP:0000653	Sparse eyelashes
OMIM:213980	TMCO1	54499	HP:0006610	Wide intermamillary distance
OMIM:213980	TMCO1	54499	HP:0000286	Epicanthus
OMIM:213980	TMCO1	54499	HP:0003422	Vertebral segmentation defect
OMIM:213980	TMCO1	54499	HP:0000288	Abnormality of the philtrum
OMIM:213980	TMCO1	54499	HP:0001558	Decreased fetal movement
OMIM:213980	TMCO1	54499	HP:0003312	Abnormal form of the vertebral bodies
OMIM:213980	TMCO1	54499	HP:0000049	Shawl scrotum
OMIM:213980	TMCO1	54499	HP:0000007	Autosomal recessive inheritance
OMIM:213980	TMCO1	54499	HP:0001319	Neonatal hypotonia
OMIM:213980	TMCO1	54499	HP:0000739	Anxiety
OMIM:213980	TMCO1	54499	HP:0002119	Ventriculomegaly
OMIM:213980	TMCO1	54499	HP:0002558	Supernumerary nipple
OMIM:213980	TMCO1	54499	HP:0000527	Long eyelashes
OMIM:213980	TMCO1	54499	HP:0003196	Short nose
OMIM:213980	TMCO1	54499	HP:0002120	Cerebral cortical atrophy
OMIM:213980	TMCO1	54499	HP:0008897	Postnatal growth retardation
OMIM:213980	TMCO1	54499	HP:0000252	Microcephaly
OMIM:213980	TMCO1	54499	HP:0002162	Low posterior hairline
OMIM:213980	TMCO1	54499	HP:0000248	Brachycephaly
OMIM:213980	TMCO1	54499	HP:0000508	Ptosis
OMIM:213980	TMCO1	54499	HP:0001249	Intellectual disability
OMIM:213980	TMCO1	54499	HP:0000294	Low anterior hairline
OMIM:213980	TMCO1	54499	HP:0000960	Sacral dimple
OMIM:213980	TMCO1	54499	HP:0000023	Inguinal hernia
OMIM:213980	TMCO1	54499	HP:0000574	Thick eyebrow
OMIM:213980	TMCO1	54499	HP:0000774	Narrow chest
OMIM:213980	TMCO1	54499	HP:0000742	Self-mutilation
OMIM:213980	TMCO1	54499	HP:0000912	Sprengel anomaly
OMIM:213980	TMCO1	54499	HP:0000077	Abnormality of the kidney
OMIM:213980	TMCO1	54499	HP:0000327	Hypoplasia of the maxilla
OMIM:213980	TMCO1	54499	HP:0012368	Flat face
OMIM:213980	TMCO1	54499	HP:0001561	Polyhydramnios
OMIM:213980	TMCO1	54499	HP:0000582	Upslanted palpebral fissure
OMIM:213980	TMCO1	54499	HP:0001631	Atria septal defect
OMIM:213980	TMCO1	54499	HP:0000445	Wide nose
OMIM:213980	TMCO1	54499	HP:0000204	Cleft upper lip
OMIM:213980	TMCO1	54499	HP:0000272	Malar flattening
OMIM:213980	TMCO1	54499	HP:0002650	Scoliosis
OMIM:213980	TMCO1	54499	HP:0011968	Feeding difficulties
OMIM:213980	TMCO1	54499	HP:0001845	Overlapping toe
OMIM:213980	TMCO1	54499	HP:0002208	Coarse hair
OMIM:213980	TMCO1	54499	HP:0000154	Wide mouth
OMIM:213980	TMCO1	54499	HP:0001763	Pes planus
OMIM:213980	TMCO1	54499	HP:0002079	Hypoplasia of the corpus callosum
OMIM:213980	TMCO1	54499	HP:0000212	Gingival overgrowth
OMIM:213980	TMCO1	54499	HP:0000824	Growth hormone deficiency
OMIM:213980	TMCO1	54499	HP:0002553	Highly arched eyebrow
OMIM:213980	TMCO1	54499	HP:0100790	Hernia
OMIM:213980	TMCO1	54499	HP:0000664	Synophrys
OMIM:213980	TMCO1	54499	HP:0001762	Talipes equinovarus
OMIM:213980	TMCO1	54499	HP:0000218	High palate
OMIM:213980	TMCO1	54499	HP:0100543	Cognitive impairment
OMIM:213980	TMCO1	54499	HP:0001363	Craniosynostosis
OMIM:213980	TMCO1	54499	HP:0000347	Micrognathia
OMIM:213980	TMCO1	54499	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:213980	TMCO1	54499	HP:0000772	Abnormality of the ribs
OMIM:252600	GNPTAB	79158	HP:0003026	Short long bone
OMIM:252600	GNPTAB	79158	HP:0001498	Carpal bone hypoplasia
OMIM:252600	GNPTAB	79158	HP:0001328	Specific learning disability
OMIM:252600	GNPTAB	79158	HP:0001171	Split hand
OMIM:252600	GNPTAB	79158	HP:0001072	Thickened skin
OMIM:252600	GNPTAB	79158	HP:0000280	Coarse facial features
OMIM:252600	GNPTAB	79158	HP:0000773	Short ribs
OMIM:252600	GNPTAB	79158	HP:0000546	Retinal degeneration
OMIM:252600	GNPTAB	79158	HP:0000303	Mandibular prognathia
OMIM:252600	GNPTAB	79158	HP:0001249	Intellectual disability
OMIM:252600	GNPTAB	79158	HP:0002650	Scoliosis
OMIM:252600	GNPTAB	79158	HP:0007759	Opacification of the corneal stroma
OMIM:252600	GNPTAB	79158	HP:0004322	Short stature
OMIM:252600	GNPTAB	79158	HP:0000943	Dysostosis multiplex
OMIM:252600	GNPTAB	79158	HP:0003182	Shallow acetabular fossae
OMIM:252600	GNPTAB	79158	HP:0000007	Autosomal recessive inheritance
OMIM:252600	GNPTAB	79158	HP:0001363	Craniosynostosis
OMIM:252600	GNPTAB	79158	HP:0001659	Aortic regurgitation
OMIM:614160	MSTN	2660	HP:0003712	Skeletal muscle hypertrophy
OMIM:614160	MSTN	2660	HP:0000007	Autosomal recessive inheritance
OMIM:604117	LOR	4014	HP:0001597	Abnormality of the nail
OMIM:604117	LOR	4014	HP:0000982	Palmoplantar keratoderma
OMIM:604117	LOR	4014	HP:0001276	Hypertonia
OMIM:604117	LOR	4014	HP:0000962	Hyperkeratosis
OMIM:604117	LOR	4014	HP:0008064	Ichthyosis
OMIM:604117	LOR	4014	HP:0100716	Self-injurious behavior
OMIM:114100	SAMHD1	25939	HP:0001250	Seizures
OMIM:114100	SAMHD1	25939	HP:0004322	Short stature
OMIM:114100	SAMHD1	25939	HP:0006887	Intellectual disability, progressive
OMIM:114100	SAMHD1	25939	HP:0002504	Calcification of the small brain vessels
OMIM:114100	SAMHD1	25939	HP:0002445	Tetraplegia
OMIM:114100	SAMHD1	25939	HP:0001257	Spasticity
OMIM:114100	SAMHD1	25939	HP:0000252	Microcephaly
OMIM:114100	SAMHD1	25939	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:114100	SAMHD1	25939	HP:0003121	Limb joint contracture
OMIM:114100	SAMHD1	25939	HP:0000007	Autosomal recessive inheritance
OMIM:114100	SAMHD1	25939	HP:0003593	Infantile onset
OMIM:114100	SAMHD1	25939	HP:0002135	Basal ganglia calcification
OMIM:114100	SAMHD1	25939	HP:0001260	Dysarthria
OMIM:114100	SAMHD1	25939	HP:0000268	Dolichocephaly
OMIM:114100	SAMHD1	25939	HP:0010864	Intellectual disability, severe
OMIM:114100	SAMHD1	25939	HP:0000006	Autosomal dominant inheritance
OMIM:114100	SAMHD1	25939	HP:0004325	Decreased body weight
OMIM:114100	SAMHD1	25939	HP:0001263	Global developmental delay
OMIM:114100	SAMHD1	25939	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:114100	RNASEH2B	79621	HP:0001250	Seizures
OMIM:114100	RNASEH2B	79621	HP:0004322	Short stature
OMIM:114100	RNASEH2B	79621	HP:0006887	Intellectual disability, progressive
OMIM:114100	RNASEH2B	79621	HP:0002504	Calcification of the small brain vessels
OMIM:114100	RNASEH2B	79621	HP:0002445	Tetraplegia
OMIM:114100	RNASEH2B	79621	HP:0001257	Spasticity
OMIM:114100	RNASEH2B	79621	HP:0000252	Microcephaly
OMIM:114100	RNASEH2B	79621	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:114100	RNASEH2B	79621	HP:0003121	Limb joint contracture
OMIM:114100	RNASEH2B	79621	HP:0000007	Autosomal recessive inheritance
OMIM:114100	RNASEH2B	79621	HP:0003593	Infantile onset
OMIM:114100	RNASEH2B	79621	HP:0002135	Basal ganglia calcification
OMIM:114100	RNASEH2B	79621	HP:0001260	Dysarthria
OMIM:114100	RNASEH2B	79621	HP:0000268	Dolichocephaly
OMIM:114100	RNASEH2B	79621	HP:0010864	Intellectual disability, severe
OMIM:114100	RNASEH2B	79621	HP:0000006	Autosomal dominant inheritance
OMIM:114100	RNASEH2B	79621	HP:0004325	Decreased body weight
OMIM:114100	RNASEH2B	79621	HP:0001263	Global developmental delay
OMIM:114100	RNASEH2B	79621	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:114100	RNASEH2A	10535	HP:0001250	Seizures
OMIM:114100	RNASEH2A	10535	HP:0004322	Short stature
OMIM:114100	RNASEH2A	10535	HP:0006887	Intellectual disability, progressive
OMIM:114100	RNASEH2A	10535	HP:0002504	Calcification of the small brain vessels
OMIM:114100	RNASEH2A	10535	HP:0002445	Tetraplegia
OMIM:114100	RNASEH2A	10535	HP:0001257	Spasticity
OMIM:114100	RNASEH2A	10535	HP:0000252	Microcephaly
OMIM:114100	RNASEH2A	10535	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:114100	RNASEH2A	10535	HP:0003121	Limb joint contracture
OMIM:114100	RNASEH2A	10535	HP:0000007	Autosomal recessive inheritance
OMIM:114100	RNASEH2A	10535	HP:0003593	Infantile onset
OMIM:114100	RNASEH2A	10535	HP:0002135	Basal ganglia calcification
OMIM:114100	RNASEH2A	10535	HP:0001260	Dysarthria
OMIM:114100	RNASEH2A	10535	HP:0000268	Dolichocephaly
OMIM:114100	RNASEH2A	10535	HP:0010864	Intellectual disability, severe
OMIM:114100	RNASEH2A	10535	HP:0000006	Autosomal dominant inheritance
OMIM:114100	RNASEH2A	10535	HP:0004325	Decreased body weight
OMIM:114100	RNASEH2A	10535	HP:0001263	Global developmental delay
OMIM:114100	RNASEH2A	10535	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:114100	ADAR	103	HP:0001250	Seizures
OMIM:114100	ADAR	103	HP:0004322	Short stature
OMIM:114100	ADAR	103	HP:0006887	Intellectual disability, progressive
OMIM:114100	ADAR	103	HP:0002504	Calcification of the small brain vessels
OMIM:114100	ADAR	103	HP:0002445	Tetraplegia
OMIM:114100	ADAR	103	HP:0001257	Spasticity
OMIM:114100	ADAR	103	HP:0000252	Microcephaly
OMIM:114100	ADAR	103	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:114100	ADAR	103	HP:0003121	Limb joint contracture
OMIM:114100	ADAR	103	HP:0000007	Autosomal recessive inheritance
OMIM:114100	ADAR	103	HP:0003593	Infantile onset
OMIM:114100	ADAR	103	HP:0002135	Basal ganglia calcification
OMIM:114100	ADAR	103	HP:0001260	Dysarthria
OMIM:114100	ADAR	103	HP:0000268	Dolichocephaly
OMIM:114100	ADAR	103	HP:0010864	Intellectual disability, severe
OMIM:114100	ADAR	103	HP:0000006	Autosomal dominant inheritance
OMIM:114100	ADAR	103	HP:0004325	Decreased body weight
OMIM:114100	ADAR	103	HP:0001263	Global developmental delay
OMIM:114100	ADAR	103	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:114100	IFIH1	64135	HP:0001250	Seizures
OMIM:114100	IFIH1	64135	HP:0004322	Short stature
OMIM:114100	IFIH1	64135	HP:0006887	Intellectual disability, progressive
OMIM:114100	IFIH1	64135	HP:0002504	Calcification of the small brain vessels
OMIM:114100	IFIH1	64135	HP:0002445	Tetraplegia
OMIM:114100	IFIH1	64135	HP:0001257	Spasticity
OMIM:114100	IFIH1	64135	HP:0000252	Microcephaly
OMIM:114100	IFIH1	64135	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:114100	IFIH1	64135	HP:0003121	Limb joint contracture
OMIM:114100	IFIH1	64135	HP:0000007	Autosomal recessive inheritance
OMIM:114100	IFIH1	64135	HP:0003593	Infantile onset
OMIM:114100	IFIH1	64135	HP:0002135	Basal ganglia calcification
OMIM:114100	IFIH1	64135	HP:0001260	Dysarthria
OMIM:114100	IFIH1	64135	HP:0000268	Dolichocephaly
OMIM:114100	IFIH1	64135	HP:0010864	Intellectual disability, severe
OMIM:114100	IFIH1	64135	HP:0000006	Autosomal dominant inheritance
OMIM:114100	IFIH1	64135	HP:0004325	Decreased body weight
OMIM:114100	IFIH1	64135	HP:0001263	Global developmental delay
OMIM:114100	IFIH1	64135	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:114100	RNASEH2C	84153	HP:0001250	Seizures
OMIM:114100	RNASEH2C	84153	HP:0004322	Short stature
OMIM:114100	RNASEH2C	84153	HP:0006887	Intellectual disability, progressive
OMIM:114100	RNASEH2C	84153	HP:0002504	Calcification of the small brain vessels
OMIM:114100	RNASEH2C	84153	HP:0002445	Tetraplegia
OMIM:114100	RNASEH2C	84153	HP:0001257	Spasticity
OMIM:114100	RNASEH2C	84153	HP:0000252	Microcephaly
OMIM:114100	RNASEH2C	84153	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:114100	RNASEH2C	84153	HP:0003121	Limb joint contracture
OMIM:114100	RNASEH2C	84153	HP:0000007	Autosomal recessive inheritance
OMIM:114100	RNASEH2C	84153	HP:0003593	Infantile onset
OMIM:114100	RNASEH2C	84153	HP:0002135	Basal ganglia calcification
OMIM:114100	RNASEH2C	84153	HP:0001260	Dysarthria
OMIM:114100	RNASEH2C	84153	HP:0000268	Dolichocephaly
OMIM:114100	RNASEH2C	84153	HP:0010864	Intellectual disability, severe
OMIM:114100	RNASEH2C	84153	HP:0000006	Autosomal dominant inheritance
OMIM:114100	RNASEH2C	84153	HP:0004325	Decreased body weight
OMIM:114100	RNASEH2C	84153	HP:0001263	Global developmental delay
OMIM:114100	RNASEH2C	84153	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:114100	TREX1	11277	HP:0001250	Seizures
OMIM:114100	TREX1	11277	HP:0004322	Short stature
OMIM:114100	TREX1	11277	HP:0006887	Intellectual disability, progressive
OMIM:114100	TREX1	11277	HP:0002504	Calcification of the small brain vessels
OMIM:114100	TREX1	11277	HP:0002445	Tetraplegia
OMIM:114100	TREX1	11277	HP:0001257	Spasticity
OMIM:114100	TREX1	11277	HP:0000252	Microcephaly
OMIM:114100	TREX1	11277	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:114100	TREX1	11277	HP:0003121	Limb joint contracture
OMIM:114100	TREX1	11277	HP:0000007	Autosomal recessive inheritance
OMIM:114100	TREX1	11277	HP:0003593	Infantile onset
OMIM:114100	TREX1	11277	HP:0002135	Basal ganglia calcification
OMIM:114100	TREX1	11277	HP:0001260	Dysarthria
OMIM:114100	TREX1	11277	HP:0000268	Dolichocephaly
OMIM:114100	TREX1	11277	HP:0010864	Intellectual disability, severe
OMIM:114100	TREX1	11277	HP:0000006	Autosomal dominant inheritance
OMIM:114100	TREX1	11277	HP:0004325	Decreased body weight
OMIM:114100	TREX1	11277	HP:0001263	Global developmental delay
OMIM:114100	TREX1	11277	HP:0002071	Abnormality of extrapyramidal motor function
ORPHANET:1429	NKX2-1	7080	HP:0001288	Gait disturbance
ORPHANET:1429	ADCY5	111	HP:0001288	Gait disturbance
OMIM:604400	TMEM43	79188	HP:0001962	Palpitations
OMIM:604400	TMEM43	79188	HP:0000006	Autosomal dominant inheritance
OMIM:604400	TMEM43	79188	HP:0004756	Ventricular tachycardia
OMIM:604400	TMEM43	79188	HP:0011663	Right ventricular cardiomyopathy
OMIM:604400	TMEM43	79188	HP:0006677	Prolonged QRS complex
OMIM:604400	TMEM43	79188	HP:0001645	Sudden cardiac death
OMIM:604400	TMEM43	79188	HP:0006682	Ventricular extrasystoles
OMIM:177820	GP1BA	2811	HP:0003010	Prolonged bleeding time
OMIM:177820	GP1BA	2811	HP:0000006	Autosomal dominant inheritance
OMIM:614009	TBXA2R	6915	HP:0000421	Epistaxis
OMIM:614009	TBXA2R	6915	HP:0000006	Autosomal dominant inheritance
OMIM:614009	TBXA2R	6915	HP:0000978	Bruising susceptibility
OMIM:614153	NOP56	10528	HP:0002066	Gait ataxia
OMIM:614153	NOP56	10528	HP:0001347	Hyperreflexia
OMIM:614153	NOP56	10528	HP:0007772	Impaired smooth pursuit
OMIM:614153	NOP56	10528	HP:0003487	Babinski sign
OMIM:614153	NOP56	10528	HP:0012473	Tongue atrophy
OMIM:614153	NOP56	10528	HP:0002070	Limb ataxia
OMIM:614153	NOP56	10528	HP:0003676	Progressive
OMIM:614153	NOP56	10528	HP:0002311	Incoordination
OMIM:614153	NOP56	10528	HP:0001260	Dysarthria
OMIM:614153	NOP56	10528	HP:0000006	Autosomal dominant inheritance
OMIM:614153	NOP56	10528	HP:0001272	Cerebellar atrophy
OMIM:614153	NOP56	10528	HP:0001308	Tongue fasciculations
OMIM:300918	MBTPS2	51360	HP:0000982	Palmoplantar keratoderma
OMIM:300918	TRPV3	162514	HP:0000982	Palmoplantar keratoderma
OMIM:616233	DNAJB2	3300	HP:0003376	Steppage gait
OMIM:616233	DNAJB2	3300	HP:0002936	Distal sensory impairment
OMIM:131800	KRT14	3861	HP:0000975	Hyperhidrosis
OMIM:131800	KRT14	3861	HP:0000006	Autosomal dominant inheritance
OMIM:131800	KRT14	3861	HP:0000978	Bruising susceptibility
OMIM:131800	KRT14	3861	HP:0000962	Hyperkeratosis
OMIM:131800	ITGB4	3691	HP:0000975	Hyperhidrosis
OMIM:131800	ITGB4	3691	HP:0000006	Autosomal dominant inheritance
OMIM:131800	ITGB4	3691	HP:0000978	Bruising susceptibility
OMIM:131800	ITGB4	3691	HP:0000962	Hyperkeratosis
OMIM:131800	KRT5	3852	HP:0000975	Hyperhidrosis
OMIM:131800	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:131800	KRT5	3852	HP:0000978	Bruising susceptibility
OMIM:131800	KRT5	3852	HP:0000962	Hyperkeratosis
OMIM:609446	KCNMA1	3778	HP:0002069	Generalized tonic-clonic seizures
OMIM:609446	KCNMA1	3778	HP:0002121	Absence seizures
OMIM:609446	KCNMA1	3778	HP:0000006	Autosomal dominant inheritance
OMIM:609446	KCNMA1	3778	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:143870	ADCY10	55811	HP:0000006	Autosomal dominant inheritance
OMIM:143870	ADCY10	55811	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:143870	ADCY10	55811	HP:0002150	Hypercalciuria
OMIM:143870	ADCY10	55811	HP:0001425	Heterogeneous
OMIM:203290	TYRP1	7306	HP:0000992	Cutaneous photosensitivity
OMIM:203290	TYRP1	7306	HP:0000486	Strabismus
OMIM:203290	TYRP1	7306	HP:0000007	Autosomal recessive inheritance
OMIM:203290	TYRP1	7306	HP:0000639	Nystagmus
OMIM:203290	TYRP1	7306	HP:0001022	Albinism
OMIM:203290	TYRP1	7306	HP:0001480	Freckling
OMIM:203290	TYRP1	7306	HP:0001107	Ocular albinism
OMIM:601228	BMPR1A	657	HP:0000006	Autosomal dominant inheritance
OMIM:601228	BMPR1A	657	HP:0001438	Abnormality of the abdomen
OMIM:601228	GREM1	26585	HP:0000006	Autosomal dominant inheritance
OMIM:601228	GREM1	26585	HP:0001438	Abnormality of the abdomen
OMIM:606703	ADCY5	111	HP:0000739	Anxiety
OMIM:606703	ADCY5	111	HP:0001635	Congestive heart failure
OMIM:606703	ADCY5	111	HP:0001347	Hyperreflexia
OMIM:606703	ADCY5	111	HP:0001332	Dystonia
OMIM:606703	ADCY5	111	HP:0001644	Dilated cardiomyopathy
OMIM:606703	ADCY5	111	HP:0002509	Limb hypertonia
OMIM:606703	ADCY5	111	HP:0001260	Dysarthria
OMIM:606703	ADCY5	111	HP:0000006	Autosomal dominant inheritance
OMIM:606703	ADCY5	111	HP:0003621	Juvenile onset
OMIM:606703	ADCY5	111	HP:0001270	Motor delay
OMIM:606703	ADCY5	111	HP:0008936	Muscular hypotonia of the trunk
OMIM:606703	ADCY5	111	HP:0002072	Chorea
OMIM:606703	ADCY5	111	HP:0100660	Dyskinesia
OMIM:610102	C5	727	HP:0005381	Recurrent meningococcal disease
OMIM:610102	C5	727	HP:0004431	Complement deficiency
OMIM:610102	C5	727	HP:0000007	Autosomal recessive inheritance
OMIM:610102	C6	729	HP:0005381	Recurrent meningococcal disease
OMIM:610102	C6	729	HP:0004431	Complement deficiency
OMIM:610102	C6	729	HP:0000007	Autosomal recessive inheritance
OMIM:610102	C7	730	HP:0005381	Recurrent meningococcal disease
OMIM:610102	C7	730	HP:0004431	Complement deficiency
OMIM:610102	C7	730	HP:0000007	Autosomal recessive inheritance
OMIM:610102	C8A	731	HP:0005381	Recurrent meningococcal disease
OMIM:610102	C8A	731	HP:0004431	Complement deficiency
OMIM:610102	C8A	731	HP:0000007	Autosomal recessive inheritance
OMIM:610102	C8B	732	HP:0005381	Recurrent meningococcal disease
OMIM:610102	C8B	732	HP:0004431	Complement deficiency
OMIM:610102	C8B	732	HP:0000007	Autosomal recessive inheritance
OMIM:610102	C8G	733	HP:0005381	Recurrent meningococcal disease
OMIM:610102	C8G	733	HP:0004431	Complement deficiency
OMIM:610102	C8G	733	HP:0000007	Autosomal recessive inheritance
OMIM:610102	C9	735	HP:0005381	Recurrent meningococcal disease
OMIM:610102	C9	735	HP:0004431	Complement deficiency
OMIM:610102	C9	735	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX19	5824	HP:0000347	Micrognathia
OMIM:214100	PEX19	5824	HP:0000256	Macrocephaly
OMIM:214100	PEX19	5824	HP:0000158	Macroglossia
OMIM:214100	PEX19	5824	HP:0001840	Metatarsus adductus
OMIM:214100	PEX19	5824	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX19	5824	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX19	5824	HP:0001284	Areflexia
OMIM:214100	PEX19	5824	HP:0000057	Clitoromegaly
OMIM:214100	PEX19	5824	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX19	5824	HP:0010808	Protruding tongue
OMIM:214100	PEX19	5824	HP:0003355	Aminoaciduria
OMIM:214100	PEX19	5824	HP:0002240	Hepatomegaly
OMIM:214100	PEX19	5824	HP:0000518	Cataract
OMIM:214100	PEX19	5824	HP:0000286	Epicanthus
OMIM:214100	PEX19	5824	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX19	5824	HP:0001265	Hyporeflexia
OMIM:214100	PEX19	5824	HP:0000311	Round face
OMIM:214100	PEX19	5824	HP:0000501	Glaucoma
OMIM:214100	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX19	5824	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX19	5824	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX19	5824	HP:0000218	High palate
OMIM:214100	PEX19	5824	HP:0001252	Muscular hypotonia
OMIM:214100	PEX19	5824	HP:0001250	Seizures
OMIM:214100	PEX19	5824	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX19	5824	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX19	5824	HP:0001425	Heterogeneous
OMIM:214100	PEX19	5824	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX19	5824	HP:0000126	Hydronephrosis
OMIM:214100	PEX19	5824	HP:0012368	Flat face
OMIM:214100	PEX19	5824	HP:0000463	Anteverted nares
OMIM:214100	PEX19	5824	HP:0001838	Rocker bottom foot
OMIM:214100	PEX19	5824	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX19	5824	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX19	5824	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX19	5824	HP:0000272	Malar flattening
OMIM:214100	PEX19	5824	HP:0005469	Flat occiput
OMIM:214100	PEX19	5824	HP:0000543	Optic disc pallor
OMIM:214100	PEX19	5824	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX19	5824	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX19	5824	HP:0000047	Hypospadias
OMIM:214100	PEX19	5824	HP:0011039	Abnormality of the helix
OMIM:214100	PEX19	5824	HP:0000316	Hypertelorism
OMIM:214100	PEX19	5824	HP:0001508	Failure to thrive
OMIM:214100	PEX19	5824	HP:0000639	Nystagmus
OMIM:214100	PEX19	5824	HP:0000028	Cryptorchidism
OMIM:214100	PEX19	5824	HP:0002967	Cubitus valgus
OMIM:214100	PEX19	5824	HP:0000348	High forehead
OMIM:214100	PEX19	5824	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX19	5824	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX19	5824	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX19	5824	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX19	5824	HP:0001762	Talipes equinovarus
OMIM:214100	PEX19	5824	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX19	5824	HP:0001629	Ventricular septal defect
OMIM:214100	PEX19	5824	HP:0002282	Heterotopia
OMIM:214100	PEX19	5824	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX19	5824	HP:0002126	Polymicrogyria
OMIM:214100	PEX16	9409	HP:0000347	Micrognathia
OMIM:214100	PEX16	9409	HP:0000256	Macrocephaly
OMIM:214100	PEX16	9409	HP:0000158	Macroglossia
OMIM:214100	PEX16	9409	HP:0001840	Metatarsus adductus
OMIM:214100	PEX16	9409	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX16	9409	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX16	9409	HP:0001284	Areflexia
OMIM:214100	PEX16	9409	HP:0000057	Clitoromegaly
OMIM:214100	PEX16	9409	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX16	9409	HP:0010808	Protruding tongue
OMIM:214100	PEX16	9409	HP:0003355	Aminoaciduria
OMIM:214100	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:214100	PEX16	9409	HP:0000518	Cataract
OMIM:214100	PEX16	9409	HP:0000286	Epicanthus
OMIM:214100	PEX16	9409	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX16	9409	HP:0001265	Hyporeflexia
OMIM:214100	PEX16	9409	HP:0000311	Round face
OMIM:214100	PEX16	9409	HP:0000501	Glaucoma
OMIM:214100	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX16	9409	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX16	9409	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX16	9409	HP:0000218	High palate
OMIM:214100	PEX16	9409	HP:0001252	Muscular hypotonia
OMIM:214100	PEX16	9409	HP:0001250	Seizures
OMIM:214100	PEX16	9409	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX16	9409	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX16	9409	HP:0001425	Heterogeneous
OMIM:214100	PEX16	9409	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX16	9409	HP:0000126	Hydronephrosis
OMIM:214100	PEX16	9409	HP:0012368	Flat face
OMIM:214100	PEX16	9409	HP:0000463	Anteverted nares
OMIM:214100	PEX16	9409	HP:0001838	Rocker bottom foot
OMIM:214100	PEX16	9409	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX16	9409	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX16	9409	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX16	9409	HP:0000272	Malar flattening
OMIM:214100	PEX16	9409	HP:0005469	Flat occiput
OMIM:214100	PEX16	9409	HP:0000543	Optic disc pallor
OMIM:214100	PEX16	9409	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX16	9409	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX16	9409	HP:0000047	Hypospadias
OMIM:214100	PEX16	9409	HP:0011039	Abnormality of the helix
OMIM:214100	PEX16	9409	HP:0000316	Hypertelorism
OMIM:214100	PEX16	9409	HP:0001508	Failure to thrive
OMIM:214100	PEX16	9409	HP:0000639	Nystagmus
OMIM:214100	PEX16	9409	HP:0000028	Cryptorchidism
OMIM:214100	PEX16	9409	HP:0002967	Cubitus valgus
OMIM:214100	PEX16	9409	HP:0000348	High forehead
OMIM:214100	PEX16	9409	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX16	9409	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX16	9409	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX16	9409	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX16	9409	HP:0001762	Talipes equinovarus
OMIM:214100	PEX16	9409	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX16	9409	HP:0001629	Ventricular septal defect
OMIM:214100	PEX16	9409	HP:0002282	Heterotopia
OMIM:214100	PEX16	9409	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX16	9409	HP:0002126	Polymicrogyria
OMIM:214100	PEX2	5828	HP:0000347	Micrognathia
OMIM:214100	PEX2	5828	HP:0000256	Macrocephaly
OMIM:214100	PEX2	5828	HP:0000158	Macroglossia
OMIM:214100	PEX2	5828	HP:0001840	Metatarsus adductus
OMIM:214100	PEX2	5828	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX2	5828	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX2	5828	HP:0001284	Areflexia
OMIM:214100	PEX2	5828	HP:0000057	Clitoromegaly
OMIM:214100	PEX2	5828	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX2	5828	HP:0010808	Protruding tongue
OMIM:214100	PEX2	5828	HP:0003355	Aminoaciduria
OMIM:214100	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:214100	PEX2	5828	HP:0000518	Cataract
OMIM:214100	PEX2	5828	HP:0000286	Epicanthus
OMIM:214100	PEX2	5828	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX2	5828	HP:0001265	Hyporeflexia
OMIM:214100	PEX2	5828	HP:0000311	Round face
OMIM:214100	PEX2	5828	HP:0000501	Glaucoma
OMIM:214100	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX2	5828	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX2	5828	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX2	5828	HP:0000218	High palate
OMIM:214100	PEX2	5828	HP:0001252	Muscular hypotonia
OMIM:214100	PEX2	5828	HP:0001250	Seizures
OMIM:214100	PEX2	5828	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX2	5828	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX2	5828	HP:0001425	Heterogeneous
OMIM:214100	PEX2	5828	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX2	5828	HP:0000126	Hydronephrosis
OMIM:214100	PEX2	5828	HP:0012368	Flat face
OMIM:214100	PEX2	5828	HP:0000463	Anteverted nares
OMIM:214100	PEX2	5828	HP:0001838	Rocker bottom foot
OMIM:214100	PEX2	5828	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX2	5828	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX2	5828	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX2	5828	HP:0000272	Malar flattening
OMIM:214100	PEX2	5828	HP:0005469	Flat occiput
OMIM:214100	PEX2	5828	HP:0000543	Optic disc pallor
OMIM:214100	PEX2	5828	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX2	5828	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX2	5828	HP:0000047	Hypospadias
OMIM:214100	PEX2	5828	HP:0011039	Abnormality of the helix
OMIM:214100	PEX2	5828	HP:0000316	Hypertelorism
OMIM:214100	PEX2	5828	HP:0001508	Failure to thrive
OMIM:214100	PEX2	5828	HP:0000639	Nystagmus
OMIM:214100	PEX2	5828	HP:0000028	Cryptorchidism
OMIM:214100	PEX2	5828	HP:0002967	Cubitus valgus
OMIM:214100	PEX2	5828	HP:0000348	High forehead
OMIM:214100	PEX2	5828	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX2	5828	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX2	5828	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX2	5828	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX2	5828	HP:0001762	Talipes equinovarus
OMIM:214100	PEX2	5828	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX2	5828	HP:0001629	Ventricular septal defect
OMIM:214100	PEX2	5828	HP:0002282	Heterotopia
OMIM:214100	PEX2	5828	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX2	5828	HP:0002126	Polymicrogyria
OMIM:214100	PEX1	5189	HP:0000347	Micrognathia
OMIM:214100	PEX1	5189	HP:0000256	Macrocephaly
OMIM:214100	PEX1	5189	HP:0000158	Macroglossia
OMIM:214100	PEX1	5189	HP:0001840	Metatarsus adductus
OMIM:214100	PEX1	5189	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX1	5189	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX1	5189	HP:0001284	Areflexia
OMIM:214100	PEX1	5189	HP:0000057	Clitoromegaly
OMIM:214100	PEX1	5189	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX1	5189	HP:0010808	Protruding tongue
OMIM:214100	PEX1	5189	HP:0003355	Aminoaciduria
OMIM:214100	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:214100	PEX1	5189	HP:0000518	Cataract
OMIM:214100	PEX1	5189	HP:0000286	Epicanthus
OMIM:214100	PEX1	5189	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX1	5189	HP:0001265	Hyporeflexia
OMIM:214100	PEX1	5189	HP:0000311	Round face
OMIM:214100	PEX1	5189	HP:0000501	Glaucoma
OMIM:214100	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX1	5189	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX1	5189	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX1	5189	HP:0000218	High palate
OMIM:214100	PEX1	5189	HP:0001252	Muscular hypotonia
OMIM:214100	PEX1	5189	HP:0001250	Seizures
OMIM:214100	PEX1	5189	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX1	5189	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX1	5189	HP:0001425	Heterogeneous
OMIM:214100	PEX1	5189	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX1	5189	HP:0000126	Hydronephrosis
OMIM:214100	PEX1	5189	HP:0012368	Flat face
OMIM:214100	PEX1	5189	HP:0000463	Anteverted nares
OMIM:214100	PEX1	5189	HP:0001838	Rocker bottom foot
OMIM:214100	PEX1	5189	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX1	5189	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX1	5189	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX1	5189	HP:0000272	Malar flattening
OMIM:214100	PEX1	5189	HP:0005469	Flat occiput
OMIM:214100	PEX1	5189	HP:0000543	Optic disc pallor
OMIM:214100	PEX1	5189	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX1	5189	HP:0000047	Hypospadias
OMIM:214100	PEX1	5189	HP:0011039	Abnormality of the helix
OMIM:214100	PEX1	5189	HP:0000316	Hypertelorism
OMIM:214100	PEX1	5189	HP:0001508	Failure to thrive
OMIM:214100	PEX1	5189	HP:0000639	Nystagmus
OMIM:214100	PEX1	5189	HP:0000028	Cryptorchidism
OMIM:214100	PEX1	5189	HP:0002967	Cubitus valgus
OMIM:214100	PEX1	5189	HP:0000348	High forehead
OMIM:214100	PEX1	5189	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX1	5189	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX1	5189	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX1	5189	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX1	5189	HP:0001762	Talipes equinovarus
OMIM:214100	PEX1	5189	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX1	5189	HP:0001629	Ventricular septal defect
OMIM:214100	PEX1	5189	HP:0002282	Heterotopia
OMIM:214100	PEX1	5189	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX1	5189	HP:0002126	Polymicrogyria
OMIM:214100	PEX5	5830	HP:0000347	Micrognathia
OMIM:214100	PEX5	5830	HP:0000256	Macrocephaly
OMIM:214100	PEX5	5830	HP:0000158	Macroglossia
OMIM:214100	PEX5	5830	HP:0001840	Metatarsus adductus
OMIM:214100	PEX5	5830	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX5	5830	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX5	5830	HP:0001284	Areflexia
OMIM:214100	PEX5	5830	HP:0000057	Clitoromegaly
OMIM:214100	PEX5	5830	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX5	5830	HP:0010808	Protruding tongue
OMIM:214100	PEX5	5830	HP:0003355	Aminoaciduria
OMIM:214100	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:214100	PEX5	5830	HP:0000518	Cataract
OMIM:214100	PEX5	5830	HP:0000286	Epicanthus
OMIM:214100	PEX5	5830	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX5	5830	HP:0001265	Hyporeflexia
OMIM:214100	PEX5	5830	HP:0000311	Round face
OMIM:214100	PEX5	5830	HP:0000501	Glaucoma
OMIM:214100	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX5	5830	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX5	5830	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX5	5830	HP:0000218	High palate
OMIM:214100	PEX5	5830	HP:0001252	Muscular hypotonia
OMIM:214100	PEX5	5830	HP:0001250	Seizures
OMIM:214100	PEX5	5830	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX5	5830	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX5	5830	HP:0001425	Heterogeneous
OMIM:214100	PEX5	5830	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX5	5830	HP:0000126	Hydronephrosis
OMIM:214100	PEX5	5830	HP:0012368	Flat face
OMIM:214100	PEX5	5830	HP:0000463	Anteverted nares
OMIM:214100	PEX5	5830	HP:0001838	Rocker bottom foot
OMIM:214100	PEX5	5830	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX5	5830	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX5	5830	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX5	5830	HP:0000272	Malar flattening
OMIM:214100	PEX5	5830	HP:0005469	Flat occiput
OMIM:214100	PEX5	5830	HP:0000543	Optic disc pallor
OMIM:214100	PEX5	5830	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX5	5830	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX5	5830	HP:0000047	Hypospadias
OMIM:214100	PEX5	5830	HP:0011039	Abnormality of the helix
OMIM:214100	PEX5	5830	HP:0000316	Hypertelorism
OMIM:214100	PEX5	5830	HP:0001508	Failure to thrive
OMIM:214100	PEX5	5830	HP:0000639	Nystagmus
OMIM:214100	PEX5	5830	HP:0000028	Cryptorchidism
OMIM:214100	PEX5	5830	HP:0002967	Cubitus valgus
OMIM:214100	PEX5	5830	HP:0000348	High forehead
OMIM:214100	PEX5	5830	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX5	5830	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX5	5830	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX5	5830	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX5	5830	HP:0001762	Talipes equinovarus
OMIM:214100	PEX5	5830	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX5	5830	HP:0001629	Ventricular septal defect
OMIM:214100	PEX5	5830	HP:0002282	Heterotopia
OMIM:214100	PEX5	5830	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX5	5830	HP:0002126	Polymicrogyria
OMIM:214100	PEX6	5190	HP:0000347	Micrognathia
OMIM:214100	PEX6	5190	HP:0000256	Macrocephaly
OMIM:214100	PEX6	5190	HP:0000158	Macroglossia
OMIM:214100	PEX6	5190	HP:0001840	Metatarsus adductus
OMIM:214100	PEX6	5190	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX6	5190	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX6	5190	HP:0001284	Areflexia
OMIM:214100	PEX6	5190	HP:0000057	Clitoromegaly
OMIM:214100	PEX6	5190	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX6	5190	HP:0010808	Protruding tongue
OMIM:214100	PEX6	5190	HP:0003355	Aminoaciduria
OMIM:214100	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:214100	PEX6	5190	HP:0000518	Cataract
OMIM:214100	PEX6	5190	HP:0000286	Epicanthus
OMIM:214100	PEX6	5190	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX6	5190	HP:0001265	Hyporeflexia
OMIM:214100	PEX6	5190	HP:0000311	Round face
OMIM:214100	PEX6	5190	HP:0000501	Glaucoma
OMIM:214100	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX6	5190	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX6	5190	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX6	5190	HP:0000218	High palate
OMIM:214100	PEX6	5190	HP:0001252	Muscular hypotonia
OMIM:214100	PEX6	5190	HP:0001250	Seizures
OMIM:214100	PEX6	5190	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX6	5190	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX6	5190	HP:0001425	Heterogeneous
OMIM:214100	PEX6	5190	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX6	5190	HP:0000126	Hydronephrosis
OMIM:214100	PEX6	5190	HP:0012368	Flat face
OMIM:214100	PEX6	5190	HP:0000463	Anteverted nares
OMIM:214100	PEX6	5190	HP:0001838	Rocker bottom foot
OMIM:214100	PEX6	5190	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX6	5190	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX6	5190	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX6	5190	HP:0000272	Malar flattening
OMIM:214100	PEX6	5190	HP:0005469	Flat occiput
OMIM:214100	PEX6	5190	HP:0000543	Optic disc pallor
OMIM:214100	PEX6	5190	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX6	5190	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX6	5190	HP:0000047	Hypospadias
OMIM:214100	PEX6	5190	HP:0011039	Abnormality of the helix
OMIM:214100	PEX6	5190	HP:0000316	Hypertelorism
OMIM:214100	PEX6	5190	HP:0001508	Failure to thrive
OMIM:214100	PEX6	5190	HP:0000639	Nystagmus
OMIM:214100	PEX6	5190	HP:0000028	Cryptorchidism
OMIM:214100	PEX6	5190	HP:0002967	Cubitus valgus
OMIM:214100	PEX6	5190	HP:0000348	High forehead
OMIM:214100	PEX6	5190	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX6	5190	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX6	5190	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX6	5190	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX6	5190	HP:0001762	Talipes equinovarus
OMIM:214100	PEX6	5190	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX6	5190	HP:0001629	Ventricular septal defect
OMIM:214100	PEX6	5190	HP:0002282	Heterotopia
OMIM:214100	PEX6	5190	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX6	5190	HP:0002126	Polymicrogyria
OMIM:214100	PEX10	5192	HP:0000347	Micrognathia
OMIM:214100	PEX10	5192	HP:0000256	Macrocephaly
OMIM:214100	PEX10	5192	HP:0000158	Macroglossia
OMIM:214100	PEX10	5192	HP:0001840	Metatarsus adductus
OMIM:214100	PEX10	5192	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX10	5192	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX10	5192	HP:0001284	Areflexia
OMIM:214100	PEX10	5192	HP:0000057	Clitoromegaly
OMIM:214100	PEX10	5192	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX10	5192	HP:0010808	Protruding tongue
OMIM:214100	PEX10	5192	HP:0003355	Aminoaciduria
OMIM:214100	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:214100	PEX10	5192	HP:0000518	Cataract
OMIM:214100	PEX10	5192	HP:0000286	Epicanthus
OMIM:214100	PEX10	5192	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX10	5192	HP:0001265	Hyporeflexia
OMIM:214100	PEX10	5192	HP:0000311	Round face
OMIM:214100	PEX10	5192	HP:0000501	Glaucoma
OMIM:214100	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX10	5192	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX10	5192	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX10	5192	HP:0000218	High palate
OMIM:214100	PEX10	5192	HP:0001252	Muscular hypotonia
OMIM:214100	PEX10	5192	HP:0001250	Seizures
OMIM:214100	PEX10	5192	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX10	5192	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX10	5192	HP:0001425	Heterogeneous
OMIM:214100	PEX10	5192	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX10	5192	HP:0000126	Hydronephrosis
OMIM:214100	PEX10	5192	HP:0012368	Flat face
OMIM:214100	PEX10	5192	HP:0000463	Anteverted nares
OMIM:214100	PEX10	5192	HP:0001838	Rocker bottom foot
OMIM:214100	PEX10	5192	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX10	5192	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX10	5192	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX10	5192	HP:0000272	Malar flattening
OMIM:214100	PEX10	5192	HP:0005469	Flat occiput
OMIM:214100	PEX10	5192	HP:0000543	Optic disc pallor
OMIM:214100	PEX10	5192	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX10	5192	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX10	5192	HP:0000047	Hypospadias
OMIM:214100	PEX10	5192	HP:0011039	Abnormality of the helix
OMIM:214100	PEX10	5192	HP:0000316	Hypertelorism
OMIM:214100	PEX10	5192	HP:0001508	Failure to thrive
OMIM:214100	PEX10	5192	HP:0000639	Nystagmus
OMIM:214100	PEX10	5192	HP:0000028	Cryptorchidism
OMIM:214100	PEX10	5192	HP:0002967	Cubitus valgus
OMIM:214100	PEX10	5192	HP:0000348	High forehead
OMIM:214100	PEX10	5192	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX10	5192	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX10	5192	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX10	5192	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX10	5192	HP:0001762	Talipes equinovarus
OMIM:214100	PEX10	5192	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX10	5192	HP:0001629	Ventricular septal defect
OMIM:214100	PEX10	5192	HP:0002282	Heterotopia
OMIM:214100	PEX10	5192	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX10	5192	HP:0002126	Polymicrogyria
OMIM:214100	PEX12	5193	HP:0000347	Micrognathia
OMIM:214100	PEX12	5193	HP:0000256	Macrocephaly
OMIM:214100	PEX12	5193	HP:0000158	Macroglossia
OMIM:214100	PEX12	5193	HP:0001840	Metatarsus adductus
OMIM:214100	PEX12	5193	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX12	5193	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX12	5193	HP:0001284	Areflexia
OMIM:214100	PEX12	5193	HP:0000057	Clitoromegaly
OMIM:214100	PEX12	5193	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX12	5193	HP:0010808	Protruding tongue
OMIM:214100	PEX12	5193	HP:0003355	Aminoaciduria
OMIM:214100	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:214100	PEX12	5193	HP:0000518	Cataract
OMIM:214100	PEX12	5193	HP:0000286	Epicanthus
OMIM:214100	PEX12	5193	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX12	5193	HP:0001265	Hyporeflexia
OMIM:214100	PEX12	5193	HP:0000311	Round face
OMIM:214100	PEX12	5193	HP:0000501	Glaucoma
OMIM:214100	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX12	5193	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX12	5193	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX12	5193	HP:0000218	High palate
OMIM:214100	PEX12	5193	HP:0001252	Muscular hypotonia
OMIM:214100	PEX12	5193	HP:0001250	Seizures
OMIM:214100	PEX12	5193	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX12	5193	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX12	5193	HP:0001425	Heterogeneous
OMIM:214100	PEX12	5193	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX12	5193	HP:0000126	Hydronephrosis
OMIM:214100	PEX12	5193	HP:0012368	Flat face
OMIM:214100	PEX12	5193	HP:0000463	Anteverted nares
OMIM:214100	PEX12	5193	HP:0001838	Rocker bottom foot
OMIM:214100	PEX12	5193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX12	5193	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX12	5193	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX12	5193	HP:0000272	Malar flattening
OMIM:214100	PEX12	5193	HP:0005469	Flat occiput
OMIM:214100	PEX12	5193	HP:0000543	Optic disc pallor
OMIM:214100	PEX12	5193	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX12	5193	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX12	5193	HP:0000047	Hypospadias
OMIM:214100	PEX12	5193	HP:0011039	Abnormality of the helix
OMIM:214100	PEX12	5193	HP:0000316	Hypertelorism
OMIM:214100	PEX12	5193	HP:0001508	Failure to thrive
OMIM:214100	PEX12	5193	HP:0000639	Nystagmus
OMIM:214100	PEX12	5193	HP:0000028	Cryptorchidism
OMIM:214100	PEX12	5193	HP:0002967	Cubitus valgus
OMIM:214100	PEX12	5193	HP:0000348	High forehead
OMIM:214100	PEX12	5193	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX12	5193	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX12	5193	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX12	5193	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX12	5193	HP:0001762	Talipes equinovarus
OMIM:214100	PEX12	5193	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX12	5193	HP:0001629	Ventricular septal defect
OMIM:214100	PEX12	5193	HP:0002282	Heterotopia
OMIM:214100	PEX12	5193	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX12	5193	HP:0002126	Polymicrogyria
OMIM:214100	PEX13	5194	HP:0000347	Micrognathia
OMIM:214100	PEX13	5194	HP:0000256	Macrocephaly
OMIM:214100	PEX13	5194	HP:0000158	Macroglossia
OMIM:214100	PEX13	5194	HP:0001840	Metatarsus adductus
OMIM:214100	PEX13	5194	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX13	5194	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX13	5194	HP:0001284	Areflexia
OMIM:214100	PEX13	5194	HP:0000057	Clitoromegaly
OMIM:214100	PEX13	5194	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX13	5194	HP:0010808	Protruding tongue
OMIM:214100	PEX13	5194	HP:0003355	Aminoaciduria
OMIM:214100	PEX13	5194	HP:0002240	Hepatomegaly
OMIM:214100	PEX13	5194	HP:0000518	Cataract
OMIM:214100	PEX13	5194	HP:0000286	Epicanthus
OMIM:214100	PEX13	5194	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX13	5194	HP:0001265	Hyporeflexia
OMIM:214100	PEX13	5194	HP:0000311	Round face
OMIM:214100	PEX13	5194	HP:0000501	Glaucoma
OMIM:214100	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX13	5194	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX13	5194	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX13	5194	HP:0000218	High palate
OMIM:214100	PEX13	5194	HP:0001252	Muscular hypotonia
OMIM:214100	PEX13	5194	HP:0001250	Seizures
OMIM:214100	PEX13	5194	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX13	5194	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX13	5194	HP:0001425	Heterogeneous
OMIM:214100	PEX13	5194	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX13	5194	HP:0000126	Hydronephrosis
OMIM:214100	PEX13	5194	HP:0012368	Flat face
OMIM:214100	PEX13	5194	HP:0000463	Anteverted nares
OMIM:214100	PEX13	5194	HP:0001838	Rocker bottom foot
OMIM:214100	PEX13	5194	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX13	5194	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX13	5194	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX13	5194	HP:0000272	Malar flattening
OMIM:214100	PEX13	5194	HP:0005469	Flat occiput
OMIM:214100	PEX13	5194	HP:0000543	Optic disc pallor
OMIM:214100	PEX13	5194	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX13	5194	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX13	5194	HP:0000047	Hypospadias
OMIM:214100	PEX13	5194	HP:0011039	Abnormality of the helix
OMIM:214100	PEX13	5194	HP:0000316	Hypertelorism
OMIM:214100	PEX13	5194	HP:0001508	Failure to thrive
OMIM:214100	PEX13	5194	HP:0000639	Nystagmus
OMIM:214100	PEX13	5194	HP:0000028	Cryptorchidism
OMIM:214100	PEX13	5194	HP:0002967	Cubitus valgus
OMIM:214100	PEX13	5194	HP:0000348	High forehead
OMIM:214100	PEX13	5194	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX13	5194	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX13	5194	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX13	5194	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX13	5194	HP:0001762	Talipes equinovarus
OMIM:214100	PEX13	5194	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX13	5194	HP:0001629	Ventricular septal defect
OMIM:214100	PEX13	5194	HP:0002282	Heterotopia
OMIM:214100	PEX13	5194	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX13	5194	HP:0002126	Polymicrogyria
OMIM:214100	PEX14	5195	HP:0000347	Micrognathia
OMIM:214100	PEX14	5195	HP:0000256	Macrocephaly
OMIM:214100	PEX14	5195	HP:0000158	Macroglossia
OMIM:214100	PEX14	5195	HP:0001840	Metatarsus adductus
OMIM:214100	PEX14	5195	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX14	5195	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX14	5195	HP:0001284	Areflexia
OMIM:214100	PEX14	5195	HP:0000057	Clitoromegaly
OMIM:214100	PEX14	5195	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX14	5195	HP:0010808	Protruding tongue
OMIM:214100	PEX14	5195	HP:0003355	Aminoaciduria
OMIM:214100	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:214100	PEX14	5195	HP:0000518	Cataract
OMIM:214100	PEX14	5195	HP:0000286	Epicanthus
OMIM:214100	PEX14	5195	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX14	5195	HP:0001265	Hyporeflexia
OMIM:214100	PEX14	5195	HP:0000311	Round face
OMIM:214100	PEX14	5195	HP:0000501	Glaucoma
OMIM:214100	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX14	5195	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX14	5195	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX14	5195	HP:0000218	High palate
OMIM:214100	PEX14	5195	HP:0001252	Muscular hypotonia
OMIM:214100	PEX14	5195	HP:0001250	Seizures
OMIM:214100	PEX14	5195	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX14	5195	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX14	5195	HP:0001425	Heterogeneous
OMIM:214100	PEX14	5195	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX14	5195	HP:0000126	Hydronephrosis
OMIM:214100	PEX14	5195	HP:0012368	Flat face
OMIM:214100	PEX14	5195	HP:0000463	Anteverted nares
OMIM:214100	PEX14	5195	HP:0001838	Rocker bottom foot
OMIM:214100	PEX14	5195	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX14	5195	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX14	5195	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX14	5195	HP:0000272	Malar flattening
OMIM:214100	PEX14	5195	HP:0005469	Flat occiput
OMIM:214100	PEX14	5195	HP:0000543	Optic disc pallor
OMIM:214100	PEX14	5195	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX14	5195	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX14	5195	HP:0000047	Hypospadias
OMIM:214100	PEX14	5195	HP:0011039	Abnormality of the helix
OMIM:214100	PEX14	5195	HP:0000316	Hypertelorism
OMIM:214100	PEX14	5195	HP:0001508	Failure to thrive
OMIM:214100	PEX14	5195	HP:0000639	Nystagmus
OMIM:214100	PEX14	5195	HP:0000028	Cryptorchidism
OMIM:214100	PEX14	5195	HP:0002967	Cubitus valgus
OMIM:214100	PEX14	5195	HP:0000348	High forehead
OMIM:214100	PEX14	5195	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX14	5195	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX14	5195	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX14	5195	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX14	5195	HP:0001762	Talipes equinovarus
OMIM:214100	PEX14	5195	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX14	5195	HP:0001629	Ventricular septal defect
OMIM:214100	PEX14	5195	HP:0002282	Heterotopia
OMIM:214100	PEX14	5195	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX14	5195	HP:0002126	Polymicrogyria
OMIM:214100	PEX26	55670	HP:0000347	Micrognathia
OMIM:214100	PEX26	55670	HP:0000256	Macrocephaly
OMIM:214100	PEX26	55670	HP:0000158	Macroglossia
OMIM:214100	PEX26	55670	HP:0001840	Metatarsus adductus
OMIM:214100	PEX26	55670	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX26	55670	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX26	55670	HP:0001284	Areflexia
OMIM:214100	PEX26	55670	HP:0000057	Clitoromegaly
OMIM:214100	PEX26	55670	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX26	55670	HP:0010808	Protruding tongue
OMIM:214100	PEX26	55670	HP:0003355	Aminoaciduria
OMIM:214100	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:214100	PEX26	55670	HP:0000518	Cataract
OMIM:214100	PEX26	55670	HP:0000286	Epicanthus
OMIM:214100	PEX26	55670	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX26	55670	HP:0001265	Hyporeflexia
OMIM:214100	PEX26	55670	HP:0000311	Round face
OMIM:214100	PEX26	55670	HP:0000501	Glaucoma
OMIM:214100	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX26	55670	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX26	55670	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX26	55670	HP:0000218	High palate
OMIM:214100	PEX26	55670	HP:0001252	Muscular hypotonia
OMIM:214100	PEX26	55670	HP:0001250	Seizures
OMIM:214100	PEX26	55670	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX26	55670	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX26	55670	HP:0001425	Heterogeneous
OMIM:214100	PEX26	55670	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX26	55670	HP:0000126	Hydronephrosis
OMIM:214100	PEX26	55670	HP:0012368	Flat face
OMIM:214100	PEX26	55670	HP:0000463	Anteverted nares
OMIM:214100	PEX26	55670	HP:0001838	Rocker bottom foot
OMIM:214100	PEX26	55670	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX26	55670	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX26	55670	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX26	55670	HP:0000272	Malar flattening
OMIM:214100	PEX26	55670	HP:0005469	Flat occiput
OMIM:214100	PEX26	55670	HP:0000543	Optic disc pallor
OMIM:214100	PEX26	55670	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX26	55670	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX26	55670	HP:0000047	Hypospadias
OMIM:214100	PEX26	55670	HP:0011039	Abnormality of the helix
OMIM:214100	PEX26	55670	HP:0000316	Hypertelorism
OMIM:214100	PEX26	55670	HP:0001508	Failure to thrive
OMIM:214100	PEX26	55670	HP:0000639	Nystagmus
OMIM:214100	PEX26	55670	HP:0000028	Cryptorchidism
OMIM:214100	PEX26	55670	HP:0002967	Cubitus valgus
OMIM:214100	PEX26	55670	HP:0000348	High forehead
OMIM:214100	PEX26	55670	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX26	55670	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX26	55670	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX26	55670	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX26	55670	HP:0001762	Talipes equinovarus
OMIM:214100	PEX26	55670	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX26	55670	HP:0001629	Ventricular septal defect
OMIM:214100	PEX26	55670	HP:0002282	Heterotopia
OMIM:214100	PEX26	55670	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX26	55670	HP:0002126	Polymicrogyria
OMIM:214100	PEX3	8504	HP:0000347	Micrognathia
OMIM:214100	PEX3	8504	HP:0000256	Macrocephaly
OMIM:214100	PEX3	8504	HP:0000158	Macroglossia
OMIM:214100	PEX3	8504	HP:0001840	Metatarsus adductus
OMIM:214100	PEX3	8504	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX3	8504	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX3	8504	HP:0001284	Areflexia
OMIM:214100	PEX3	8504	HP:0000057	Clitoromegaly
OMIM:214100	PEX3	8504	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX3	8504	HP:0010808	Protruding tongue
OMIM:214100	PEX3	8504	HP:0003355	Aminoaciduria
OMIM:214100	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:214100	PEX3	8504	HP:0000518	Cataract
OMIM:214100	PEX3	8504	HP:0000286	Epicanthus
OMIM:214100	PEX3	8504	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX3	8504	HP:0001265	Hyporeflexia
OMIM:214100	PEX3	8504	HP:0000311	Round face
OMIM:214100	PEX3	8504	HP:0000501	Glaucoma
OMIM:214100	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX3	8504	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX3	8504	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX3	8504	HP:0000218	High palate
OMIM:214100	PEX3	8504	HP:0001252	Muscular hypotonia
OMIM:214100	PEX3	8504	HP:0001250	Seizures
OMIM:214100	PEX3	8504	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX3	8504	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX3	8504	HP:0001425	Heterogeneous
OMIM:214100	PEX3	8504	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX3	8504	HP:0000126	Hydronephrosis
OMIM:214100	PEX3	8504	HP:0012368	Flat face
OMIM:214100	PEX3	8504	HP:0000463	Anteverted nares
OMIM:214100	PEX3	8504	HP:0001838	Rocker bottom foot
OMIM:214100	PEX3	8504	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX3	8504	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX3	8504	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX3	8504	HP:0000272	Malar flattening
OMIM:214100	PEX3	8504	HP:0005469	Flat occiput
OMIM:214100	PEX3	8504	HP:0000543	Optic disc pallor
OMIM:214100	PEX3	8504	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX3	8504	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX3	8504	HP:0000047	Hypospadias
OMIM:214100	PEX3	8504	HP:0011039	Abnormality of the helix
OMIM:214100	PEX3	8504	HP:0000316	Hypertelorism
OMIM:214100	PEX3	8504	HP:0001508	Failure to thrive
OMIM:214100	PEX3	8504	HP:0000639	Nystagmus
OMIM:214100	PEX3	8504	HP:0000028	Cryptorchidism
OMIM:214100	PEX3	8504	HP:0002967	Cubitus valgus
OMIM:214100	PEX3	8504	HP:0000348	High forehead
OMIM:214100	PEX3	8504	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX3	8504	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX3	8504	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX3	8504	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX3	8504	HP:0001762	Talipes equinovarus
OMIM:214100	PEX3	8504	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX3	8504	HP:0001629	Ventricular septal defect
OMIM:214100	PEX3	8504	HP:0002282	Heterotopia
OMIM:214100	PEX3	8504	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX3	8504	HP:0002126	Polymicrogyria
OMIM:214100	PEX11B	8799	HP:0000347	Micrognathia
OMIM:214100	PEX11B	8799	HP:0000256	Macrocephaly
OMIM:214100	PEX11B	8799	HP:0000158	Macroglossia
OMIM:214100	PEX11B	8799	HP:0001840	Metatarsus adductus
OMIM:214100	PEX11B	8799	HP:0006579	Prolonged neonatal jaundice
OMIM:214100	PEX11B	8799	HP:0010655	Epiphyseal stippling
OMIM:214100	PEX11B	8799	HP:0001284	Areflexia
OMIM:214100	PEX11B	8799	HP:0000057	Clitoromegaly
OMIM:214100	PEX11B	8799	HP:0004492	Widely patent fontanelles and sutures
OMIM:214100	PEX11B	8799	HP:0010808	Protruding tongue
OMIM:214100	PEX11B	8799	HP:0003355	Aminoaciduria
OMIM:214100	PEX11B	8799	HP:0002240	Hepatomegaly
OMIM:214100	PEX11B	8799	HP:0000518	Cataract
OMIM:214100	PEX11B	8799	HP:0000286	Epicanthus
OMIM:214100	PEX11B	8799	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214100	PEX11B	8799	HP:0001265	Hyporeflexia
OMIM:214100	PEX11B	8799	HP:0000311	Round face
OMIM:214100	PEX11B	8799	HP:0000501	Glaucoma
OMIM:214100	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:214100	PEX11B	8799	HP:0002089	Pulmonary hypoplasia
OMIM:214100	PEX11B	8799	HP:0000580	Pigmentary retinopathy
OMIM:214100	PEX11B	8799	HP:0000218	High palate
OMIM:214100	PEX11B	8799	HP:0001252	Muscular hypotonia
OMIM:214100	PEX11B	8799	HP:0001250	Seizures
OMIM:214100	PEX11B	8799	HP:0000954	Single transverse palmar crease
OMIM:214100	PEX11B	8799	HP:0001591	Bell-shaped thorax
OMIM:214100	PEX11B	8799	HP:0001425	Heterogeneous
OMIM:214100	PEX11B	8799	HP:0000582	Upslanted palpebral fissure
OMIM:214100	PEX11B	8799	HP:0000126	Hydronephrosis
OMIM:214100	PEX11B	8799	HP:0012368	Flat face
OMIM:214100	PEX11B	8799	HP:0000463	Anteverted nares
OMIM:214100	PEX11B	8799	HP:0001838	Rocker bottom foot
OMIM:214100	PEX11B	8799	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:214100	PEX11B	8799	HP:0000358	Posteriorly rotated ears
OMIM:214100	PEX11B	8799	HP:0004734	Renal cortical microcysts
OMIM:214100	PEX11B	8799	HP:0000272	Malar flattening
OMIM:214100	PEX11B	8799	HP:0005469	Flat occiput
OMIM:214100	PEX11B	8799	HP:0000543	Optic disc pallor
OMIM:214100	PEX11B	8799	HP:0000512	Abnormal electroretinogram
OMIM:214100	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
OMIM:214100	PEX11B	8799	HP:0000047	Hypospadias
OMIM:214100	PEX11B	8799	HP:0011039	Abnormality of the helix
OMIM:214100	PEX11B	8799	HP:0000316	Hypertelorism
OMIM:214100	PEX11B	8799	HP:0001508	Failure to thrive
OMIM:214100	PEX11B	8799	HP:0000639	Nystagmus
OMIM:214100	PEX11B	8799	HP:0000028	Cryptorchidism
OMIM:214100	PEX11B	8799	HP:0002967	Cubitus valgus
OMIM:214100	PEX11B	8799	HP:0000348	High forehead
OMIM:214100	PEX11B	8799	HP:0002750	Delayed skeletal maturation
OMIM:214100	PEX11B	8799	HP:0010864	Intellectual disability, severe
OMIM:214100	PEX11B	8799	HP:0006887	Intellectual disability, progressive
OMIM:214100	PEX11B	8799	HP:0001643	Patent ductus arteriosus
OMIM:214100	PEX11B	8799	HP:0001762	Talipes equinovarus
OMIM:214100	PEX11B	8799	HP:0000835	Adrenal hypoplasia
OMIM:214100	PEX11B	8799	HP:0001629	Ventricular septal defect
OMIM:214100	PEX11B	8799	HP:0002282	Heterotopia
OMIM:214100	PEX11B	8799	HP:0007759	Opacification of the corneal stroma
OMIM:214100	PEX11B	8799	HP:0002126	Polymicrogyria
OMIM:253270	HLCS	3141	HP:0001596	Alopecia
OMIM:253270	HLCS	3141	HP:0001873	Thrombocytopenia
OMIM:253270	HLCS	3141	HP:0002013	Vomiting
OMIM:253270	HLCS	3141	HP:0002311	Incoordination
OMIM:253270	HLCS	3141	HP:0004372	Reduced consciousness/confusion
OMIM:253270	HLCS	3141	HP:0001252	Muscular hypotonia
OMIM:253270	HLCS	3141	HP:0100533	Inflammatory abnormality of the eye
OMIM:253270	HLCS	3141	HP:0001254	Lethargy
OMIM:253270	HLCS	3141	HP:0002789	Tachypnea
OMIM:253270	HLCS	3141	HP:0001992	Organic aciduria
OMIM:253270	HLCS	3141	HP:0001987	Hyperammonemia
OMIM:253270	HLCS	3141	HP:0000007	Autosomal recessive inheritance
OMIM:253270	HLCS	3141	HP:0000737	Irritability
OMIM:253270	HLCS	3141	HP:0000988	Skin rash
OMIM:253270	HLCS	3141	HP:0001250	Seizures
OMIM:253270	HLCS	3141	HP:0002017	Nausea and vomiting
OMIM:253270	HLCS	3141	HP:0001942	Metabolic acidosis
OMIM:253270	HLCS	3141	HP:0000958	Dry skin
OMIM:253270	HLCS	3141	HP:0001824	Weight loss
OMIM:253270	HLCS	3141	HP:0002793	Abnormal pattern of respiration
OMIM:253270	HLCS	3141	HP:0002093	Respiratory insufficiency
OMIM:253270	HLCS	3141	HP:0001263	Global developmental delay
OMIM:253270	HLCS	3141	HP:0002883	Hyperventilation
OMIM:253270	HLCS	3141	HP:0008872	Feeding difficulties in infancy
OMIM:253270	HLCS	3141	HP:0001259	Coma
OMIM:253270	HLCS	3141	HP:0000708	Behavioral abnormality
OMIM:253270	HLCS	3141	HP:0001276	Hypertonia
OMIM:257300	BUB3	9184	HP:0001518	Small for gestational age
OMIM:257300	BUB3	9184	HP:0001305	Dandy-Walker malformation
OMIM:257300	BUB3	9184	HP:0011800	Hypoplasia of midface
OMIM:257300	BUB3	9184	HP:0200024	Premature chromatid separation
OMIM:257300	BUB3	9184	HP:0000207	Triangular mouth
OMIM:257300	BUB3	9184	HP:0005387	Combined immunodeficiency
OMIM:257300	BUB3	9184	HP:0004322	Short stature
OMIM:257300	BUB3	9184	HP:0000272	Malar flattening
OMIM:257300	BUB3	9184	HP:0002123	Generalized myoclonic seizures
OMIM:257300	BUB3	9184	HP:0003812	Phenotypic variability
OMIM:257300	BUB3	9184	HP:0000582	Upslanted palpebral fissure
OMIM:257300	BUB3	9184	HP:0001274	Agenesis of corpus callosum
OMIM:257300	BUB3	9184	HP:0002859	Rhabdomyosarcoma
OMIM:257300	BUB3	9184	HP:0000047	Hypospadias
OMIM:257300	BUB3	9184	HP:0000107	Renal cyst
OMIM:257300	BUB3	9184	HP:0000286	Epicanthus
OMIM:257300	BUB3	9184	HP:0000048	Bifid scrotum
OMIM:257300	BUB3	9184	HP:0006849	Hypodysplasia of the corpus callosum
OMIM:257300	BUB3	9184	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:257300	BUB3	9184	HP:0000007	Autosomal recessive inheritance
OMIM:257300	BUB3	9184	HP:0000879	Short sternum
OMIM:257300	BUB3	9184	HP:0005280	Depressed nasal bridge
OMIM:257300	BUB3	9184	HP:0003196	Short nose
OMIM:257300	BUB3	9184	HP:0001321	Cerebellar hypoplasia
OMIM:257300	BUB3	9184	HP:0000343	Long philtrum
OMIM:257300	BUB3	9184	HP:0000028	Cryptorchidism
OMIM:257300	BUB3	9184	HP:0000358	Posteriorly rotated ears
OMIM:257300	BUB3	9184	HP:0001290	Generalized hypotonia
OMIM:257300	BUB3	9184	HP:0000445	Wide nose
OMIM:257300	BUB3	9184	HP:0002187	Intellectual disability, profound
OMIM:257300	BUB3	9184	HP:0006872	Cerebral hypoplasia
OMIM:257300	BUB3	9184	HP:0000369	Low-set ears
OMIM:257300	BUB3	9184	HP:0000252	Microcephaly
OMIM:257300	BUB3	9184	HP:0000062	Ambiguous genitalia
OMIM:257300	BUB3	9184	HP:0000316	Hypertelorism
OMIM:257300	BUB3	9184	HP:0001511	Intrauterine growth retardation
OMIM:257300	BUB3	9184	HP:0000518	Cataract
OMIM:257300	BUB3	9184	HP:0001562	Oligohydramnios
OMIM:257300	BUB3	9184	HP:0002069	Generalized tonic-clonic seizures
OMIM:257300	BUB3	9184	HP:0000470	Short neck
OMIM:257300	BUB3	9184	HP:0008872	Feeding difficulties in infancy
OMIM:257300	BUB3	9184	HP:0002119	Ventriculomegaly
OMIM:257300	BUB3	9184	HP:0000639	Nystagmus
OMIM:257300	BUB3	9184	HP:0000054	Micropenis
OMIM:257300	BUB3	9184	HP:0008897	Postnatal growth retardation
OMIM:257300	BUB3	9184	HP:0000248	Brachycephaly
OMIM:257300	BUB3	9184	HP:0001909	Leukemia
OMIM:257300	BUB3	9184	HP:0000348	High forehead
OMIM:257300	BUB3	9184	HP:0000175	Cleft palate
OMIM:257300	BUB3	9184	HP:0000347	Micrognathia
OMIM:257300	BUB3	9184	HP:0000463	Anteverted nares
OMIM:257300	BUB3	9184	HP:0000238	Hydrocephalus
OMIM:257300	BUB3	9184	HP:0011344	Severe global developmental delay
OMIM:257300	CEP57	9702	HP:0001518	Small for gestational age
OMIM:257300	CEP57	9702	HP:0001305	Dandy-Walker malformation
OMIM:257300	CEP57	9702	HP:0011800	Hypoplasia of midface
OMIM:257300	CEP57	9702	HP:0200024	Premature chromatid separation
OMIM:257300	CEP57	9702	HP:0000207	Triangular mouth
OMIM:257300	CEP57	9702	HP:0005387	Combined immunodeficiency
OMIM:257300	CEP57	9702	HP:0004322	Short stature
OMIM:257300	CEP57	9702	HP:0000272	Malar flattening
OMIM:257300	CEP57	9702	HP:0002123	Generalized myoclonic seizures
OMIM:257300	CEP57	9702	HP:0003812	Phenotypic variability
OMIM:257300	CEP57	9702	HP:0000582	Upslanted palpebral fissure
OMIM:257300	CEP57	9702	HP:0001274	Agenesis of corpus callosum
OMIM:257300	CEP57	9702	HP:0002859	Rhabdomyosarcoma
OMIM:257300	CEP57	9702	HP:0000047	Hypospadias
OMIM:257300	CEP57	9702	HP:0000107	Renal cyst
OMIM:257300	CEP57	9702	HP:0000286	Epicanthus
OMIM:257300	CEP57	9702	HP:0000048	Bifid scrotum
OMIM:257300	CEP57	9702	HP:0006849	Hypodysplasia of the corpus callosum
OMIM:257300	CEP57	9702	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:257300	CEP57	9702	HP:0000007	Autosomal recessive inheritance
OMIM:257300	CEP57	9702	HP:0000879	Short sternum
OMIM:257300	CEP57	9702	HP:0005280	Depressed nasal bridge
OMIM:257300	CEP57	9702	HP:0003196	Short nose
OMIM:257300	CEP57	9702	HP:0001321	Cerebellar hypoplasia
OMIM:257300	CEP57	9702	HP:0000343	Long philtrum
OMIM:257300	CEP57	9702	HP:0000028	Cryptorchidism
OMIM:257300	CEP57	9702	HP:0000358	Posteriorly rotated ears
OMIM:257300	CEP57	9702	HP:0001290	Generalized hypotonia
OMIM:257300	CEP57	9702	HP:0000445	Wide nose
OMIM:257300	CEP57	9702	HP:0002187	Intellectual disability, profound
OMIM:257300	CEP57	9702	HP:0006872	Cerebral hypoplasia
OMIM:257300	CEP57	9702	HP:0000369	Low-set ears
OMIM:257300	CEP57	9702	HP:0000252	Microcephaly
OMIM:257300	CEP57	9702	HP:0000062	Ambiguous genitalia
OMIM:257300	CEP57	9702	HP:0000316	Hypertelorism
OMIM:257300	CEP57	9702	HP:0001511	Intrauterine growth retardation
OMIM:257300	CEP57	9702	HP:0000518	Cataract
OMIM:257300	CEP57	9702	HP:0001562	Oligohydramnios
OMIM:257300	CEP57	9702	HP:0002069	Generalized tonic-clonic seizures
OMIM:257300	CEP57	9702	HP:0000470	Short neck
OMIM:257300	CEP57	9702	HP:0008872	Feeding difficulties in infancy
OMIM:257300	CEP57	9702	HP:0002119	Ventriculomegaly
OMIM:257300	CEP57	9702	HP:0000639	Nystagmus
OMIM:257300	CEP57	9702	HP:0000054	Micropenis
OMIM:257300	CEP57	9702	HP:0008897	Postnatal growth retardation
OMIM:257300	CEP57	9702	HP:0000248	Brachycephaly
OMIM:257300	CEP57	9702	HP:0001909	Leukemia
OMIM:257300	CEP57	9702	HP:0000348	High forehead
OMIM:257300	CEP57	9702	HP:0000175	Cleft palate
OMIM:257300	CEP57	9702	HP:0000347	Micrognathia
OMIM:257300	CEP57	9702	HP:0000463	Anteverted nares
OMIM:257300	CEP57	9702	HP:0000238	Hydrocephalus
OMIM:257300	CEP57	9702	HP:0011344	Severe global developmental delay
OMIM:257300	BUB1	699	HP:0001518	Small for gestational age
OMIM:257300	BUB1	699	HP:0001305	Dandy-Walker malformation
OMIM:257300	BUB1	699	HP:0011800	Hypoplasia of midface
OMIM:257300	BUB1	699	HP:0200024	Premature chromatid separation
OMIM:257300	BUB1	699	HP:0000207	Triangular mouth
OMIM:257300	BUB1	699	HP:0005387	Combined immunodeficiency
OMIM:257300	BUB1	699	HP:0004322	Short stature
OMIM:257300	BUB1	699	HP:0000272	Malar flattening
OMIM:257300	BUB1	699	HP:0002123	Generalized myoclonic seizures
OMIM:257300	BUB1	699	HP:0003812	Phenotypic variability
OMIM:257300	BUB1	699	HP:0000582	Upslanted palpebral fissure
OMIM:257300	BUB1	699	HP:0001274	Agenesis of corpus callosum
OMIM:257300	BUB1	699	HP:0002859	Rhabdomyosarcoma
OMIM:257300	BUB1	699	HP:0000047	Hypospadias
OMIM:257300	BUB1	699	HP:0000107	Renal cyst
OMIM:257300	BUB1	699	HP:0000286	Epicanthus
OMIM:257300	BUB1	699	HP:0000048	Bifid scrotum
OMIM:257300	BUB1	699	HP:0006849	Hypodysplasia of the corpus callosum
OMIM:257300	BUB1	699	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:257300	BUB1	699	HP:0000007	Autosomal recessive inheritance
OMIM:257300	BUB1	699	HP:0000879	Short sternum
OMIM:257300	BUB1	699	HP:0005280	Depressed nasal bridge
OMIM:257300	BUB1	699	HP:0003196	Short nose
OMIM:257300	BUB1	699	HP:0001321	Cerebellar hypoplasia
OMIM:257300	BUB1	699	HP:0000343	Long philtrum
OMIM:257300	BUB1	699	HP:0000028	Cryptorchidism
OMIM:257300	BUB1	699	HP:0000358	Posteriorly rotated ears
OMIM:257300	BUB1	699	HP:0001290	Generalized hypotonia
OMIM:257300	BUB1	699	HP:0000445	Wide nose
OMIM:257300	BUB1	699	HP:0002187	Intellectual disability, profound
OMIM:257300	BUB1	699	HP:0006872	Cerebral hypoplasia
OMIM:257300	BUB1	699	HP:0000369	Low-set ears
OMIM:257300	BUB1	699	HP:0000252	Microcephaly
OMIM:257300	BUB1	699	HP:0000062	Ambiguous genitalia
OMIM:257300	BUB1	699	HP:0000316	Hypertelorism
OMIM:257300	BUB1	699	HP:0001511	Intrauterine growth retardation
OMIM:257300	BUB1	699	HP:0000518	Cataract
OMIM:257300	BUB1	699	HP:0001562	Oligohydramnios
OMIM:257300	BUB1	699	HP:0002069	Generalized tonic-clonic seizures
OMIM:257300	BUB1	699	HP:0000470	Short neck
OMIM:257300	BUB1	699	HP:0008872	Feeding difficulties in infancy
OMIM:257300	BUB1	699	HP:0002119	Ventriculomegaly
OMIM:257300	BUB1	699	HP:0000639	Nystagmus
OMIM:257300	BUB1	699	HP:0000054	Micropenis
OMIM:257300	BUB1	699	HP:0008897	Postnatal growth retardation
OMIM:257300	BUB1	699	HP:0000248	Brachycephaly
OMIM:257300	BUB1	699	HP:0001909	Leukemia
OMIM:257300	BUB1	699	HP:0000348	High forehead
OMIM:257300	BUB1	699	HP:0000175	Cleft palate
OMIM:257300	BUB1	699	HP:0000347	Micrognathia
OMIM:257300	BUB1	699	HP:0000463	Anteverted nares
OMIM:257300	BUB1	699	HP:0000238	Hydrocephalus
OMIM:257300	BUB1	699	HP:0011344	Severe global developmental delay
OMIM:257300	BUB1B	701	HP:0001518	Small for gestational age
OMIM:257300	BUB1B	701	HP:0001305	Dandy-Walker malformation
OMIM:257300	BUB1B	701	HP:0011800	Hypoplasia of midface
OMIM:257300	BUB1B	701	HP:0200024	Premature chromatid separation
OMIM:257300	BUB1B	701	HP:0000207	Triangular mouth
OMIM:257300	BUB1B	701	HP:0005387	Combined immunodeficiency
OMIM:257300	BUB1B	701	HP:0004322	Short stature
OMIM:257300	BUB1B	701	HP:0000272	Malar flattening
OMIM:257300	BUB1B	701	HP:0002123	Generalized myoclonic seizures
OMIM:257300	BUB1B	701	HP:0003812	Phenotypic variability
OMIM:257300	BUB1B	701	HP:0000582	Upslanted palpebral fissure
OMIM:257300	BUB1B	701	HP:0001274	Agenesis of corpus callosum
OMIM:257300	BUB1B	701	HP:0002859	Rhabdomyosarcoma
OMIM:257300	BUB1B	701	HP:0000047	Hypospadias
OMIM:257300	BUB1B	701	HP:0000107	Renal cyst
OMIM:257300	BUB1B	701	HP:0000286	Epicanthus
OMIM:257300	BUB1B	701	HP:0000048	Bifid scrotum
OMIM:257300	BUB1B	701	HP:0006849	Hypodysplasia of the corpus callosum
OMIM:257300	BUB1B	701	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:257300	BUB1B	701	HP:0000007	Autosomal recessive inheritance
OMIM:257300	BUB1B	701	HP:0000879	Short sternum
OMIM:257300	BUB1B	701	HP:0005280	Depressed nasal bridge
OMIM:257300	BUB1B	701	HP:0003196	Short nose
OMIM:257300	BUB1B	701	HP:0001321	Cerebellar hypoplasia
OMIM:257300	BUB1B	701	HP:0000343	Long philtrum
OMIM:257300	BUB1B	701	HP:0000028	Cryptorchidism
OMIM:257300	BUB1B	701	HP:0000358	Posteriorly rotated ears
OMIM:257300	BUB1B	701	HP:0001290	Generalized hypotonia
OMIM:257300	BUB1B	701	HP:0000445	Wide nose
OMIM:257300	BUB1B	701	HP:0002187	Intellectual disability, profound
OMIM:257300	BUB1B	701	HP:0006872	Cerebral hypoplasia
OMIM:257300	BUB1B	701	HP:0000369	Low-set ears
OMIM:257300	BUB1B	701	HP:0000252	Microcephaly
OMIM:257300	BUB1B	701	HP:0000062	Ambiguous genitalia
OMIM:257300	BUB1B	701	HP:0000316	Hypertelorism
OMIM:257300	BUB1B	701	HP:0001511	Intrauterine growth retardation
OMIM:257300	BUB1B	701	HP:0000518	Cataract
OMIM:257300	BUB1B	701	HP:0001562	Oligohydramnios
OMIM:257300	BUB1B	701	HP:0002069	Generalized tonic-clonic seizures
OMIM:257300	BUB1B	701	HP:0000470	Short neck
OMIM:257300	BUB1B	701	HP:0008872	Feeding difficulties in infancy
OMIM:257300	BUB1B	701	HP:0002119	Ventriculomegaly
OMIM:257300	BUB1B	701	HP:0000639	Nystagmus
OMIM:257300	BUB1B	701	HP:0000054	Micropenis
OMIM:257300	BUB1B	701	HP:0008897	Postnatal growth retardation
OMIM:257300	BUB1B	701	HP:0000248	Brachycephaly
OMIM:257300	BUB1B	701	HP:0001909	Leukemia
OMIM:257300	BUB1B	701	HP:0000348	High forehead
OMIM:257300	BUB1B	701	HP:0000175	Cleft palate
OMIM:257300	BUB1B	701	HP:0000347	Micrognathia
OMIM:257300	BUB1B	701	HP:0000463	Anteverted nares
OMIM:257300	BUB1B	701	HP:0000238	Hydrocephalus
OMIM:257300	BUB1B	701	HP:0011344	Severe global developmental delay
OMIM:615025	DHTKD1	55526	HP:0002355	Difficulty walking
OMIM:615025	DHTKD1	55526	HP:0003202	Skeletal muscle atrophy
OMIM:300194	ACSL4	2182	HP:0001182	Tapered finger
OMIM:300194	ACSL4	2182	HP:0100543	Cognitive impairment
OMIM:300194	ACSL4	2182	HP:0000944	Abnormality of the metaphyses
OMIM:300194	ACSL4	2182	HP:0005280	Depressed nasal bridge
OMIM:300194	ACSL4	2182	HP:0000272	Malar flattening
OMIM:300194	ACSL4	2182	HP:0000545	Myopia
OMIM:300194	ACSL4	2182	HP:0000083	Renal insufficiency
OMIM:300194	ACSL4	2182	HP:0000790	Hematuria
OMIM:300194	ACSL4	2182	HP:0001646	Abnormality of the aortic valve
OMIM:300194	ACSL4	2182	HP:0000179	Thick lower lip vermilion
OMIM:300194	ACSL4	2182	HP:0001643	Patent ductus arteriosus
OMIM:300194	ACSL4	2182	HP:0000365	Hearing impairment
OMIM:300194	ACSL4	2182	HP:0000093	Proteinuria
OMIM:300194	ACSL4	2182	HP:0000486	Strabismus
OMIM:300194	ACSL4	2182	HP:0001252	Muscular hypotonia
OMIM:300194	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300194	ACSL4	2182	HP:0000494	Downslanted palpebral fissures
OMIM:300194	ACSL4	2182	HP:0011800	Hypoplasia of midface
OMIM:300194	ACSL4	2182	HP:0000463	Anteverted nares
OMIM:300194	ACSL4	2182	HP:0000233	Thin vermilion border
OMIM:300194	AMMECR1	9949	HP:0001182	Tapered finger
OMIM:300194	AMMECR1	9949	HP:0100543	Cognitive impairment
OMIM:300194	AMMECR1	9949	HP:0000944	Abnormality of the metaphyses
OMIM:300194	AMMECR1	9949	HP:0005280	Depressed nasal bridge
OMIM:300194	AMMECR1	9949	HP:0000272	Malar flattening
OMIM:300194	AMMECR1	9949	HP:0000545	Myopia
OMIM:300194	AMMECR1	9949	HP:0000083	Renal insufficiency
OMIM:300194	AMMECR1	9949	HP:0000790	Hematuria
OMIM:300194	AMMECR1	9949	HP:0001646	Abnormality of the aortic valve
OMIM:300194	AMMECR1	9949	HP:0000179	Thick lower lip vermilion
OMIM:300194	AMMECR1	9949	HP:0001643	Patent ductus arteriosus
OMIM:300194	AMMECR1	9949	HP:0000365	Hearing impairment
OMIM:300194	AMMECR1	9949	HP:0000093	Proteinuria
OMIM:300194	AMMECR1	9949	HP:0000486	Strabismus
OMIM:300194	AMMECR1	9949	HP:0001252	Muscular hypotonia
OMIM:300194	AMMECR1	9949	HP:0001249	Intellectual disability
OMIM:300194	AMMECR1	9949	HP:0000494	Downslanted palpebral fissures
OMIM:300194	AMMECR1	9949	HP:0011800	Hypoplasia of midface
OMIM:300194	AMMECR1	9949	HP:0000463	Anteverted nares
OMIM:300194	AMMECR1	9949	HP:0000233	Thin vermilion border
OMIM:300194	KCNE5	23630	HP:0001182	Tapered finger
OMIM:300194	KCNE5	23630	HP:0100543	Cognitive impairment
OMIM:300194	KCNE5	23630	HP:0000944	Abnormality of the metaphyses
OMIM:300194	KCNE5	23630	HP:0005280	Depressed nasal bridge
OMIM:300194	KCNE5	23630	HP:0000272	Malar flattening
OMIM:300194	KCNE5	23630	HP:0000545	Myopia
OMIM:300194	KCNE5	23630	HP:0000083	Renal insufficiency
OMIM:300194	KCNE5	23630	HP:0000790	Hematuria
OMIM:300194	KCNE5	23630	HP:0001646	Abnormality of the aortic valve
OMIM:300194	KCNE5	23630	HP:0000179	Thick lower lip vermilion
OMIM:300194	KCNE5	23630	HP:0001643	Patent ductus arteriosus
OMIM:300194	KCNE5	23630	HP:0000365	Hearing impairment
OMIM:300194	KCNE5	23630	HP:0000093	Proteinuria
OMIM:300194	KCNE5	23630	HP:0000486	Strabismus
OMIM:300194	KCNE5	23630	HP:0001252	Muscular hypotonia
OMIM:300194	KCNE5	23630	HP:0001249	Intellectual disability
OMIM:300194	KCNE5	23630	HP:0000494	Downslanted palpebral fissures
OMIM:300194	KCNE5	23630	HP:0011800	Hypoplasia of midface
OMIM:300194	KCNE5	23630	HP:0000463	Anteverted nares
OMIM:300194	KCNE5	23630	HP:0000233	Thin vermilion border
OMIM:600363	NIPA1	123606	HP:0000006	Autosomal dominant inheritance
OMIM:600363	NIPA1	123606	HP:0007340	Lower limb muscle weakness
OMIM:600363	NIPA1	123606	HP:0001761	Pes cavus
OMIM:600363	NIPA1	123606	HP:0000012	Urinary urgency
OMIM:600363	NIPA1	123606	HP:0001337	Tremor
OMIM:600363	NIPA1	123606	HP:0001250	Seizures
OMIM:600363	NIPA1	123606	HP:0002169	Clonus
OMIM:600363	NIPA1	123606	HP:0001258	Spastic paraplegia
OMIM:600363	NIPA1	123606	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:600363	NIPA1	123606	HP:0002064	Spastic gait
OMIM:600363	NIPA1	123606	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:600363	NIPA1	123606	HP:0002061	Lower limb spasticity
OMIM:600363	NIPA1	123606	HP:0003828	Variable expressivity
OMIM:600363	NIPA1	123606	HP:0003676	Progressive
OMIM:600363	NIPA1	123606	HP:0003487	Babinski sign
OMIM:600363	NIPA1	123606	HP:0000020	Urinary incontinence
OMIM:600363	NIPA1	123606	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:613873	JPH2	57158	HP:0000006	Autosomal dominant inheritance
OMIM:613873	JPH2	57158	HP:0004756	Ventricular tachycardia
OMIM:613873	JPH2	57158	HP:0001962	Palpitations
OMIM:613873	JPH2	57158	HP:0001638	Cardiomyopathy
OMIM:613873	JPH2	57158	HP:0001712	Left ventricular hypertrophy
OMIM:613873	JPH2	57158	HP:0002094	Dyspnea
OMIM:304500	COL4A6	1288	HP:0000407	Sensorineural hearing impairment
OMIM:304500	COL4A6	1288	HP:0001419	X-linked recessive inheritance
OMIM:304500	SMPX	23676	HP:0000407	Sensorineural hearing impairment
OMIM:304500	SMPX	23676	HP:0001419	X-linked recessive inheritance
OMIM:304500	PRPS1	5631	HP:0000407	Sensorineural hearing impairment
OMIM:304500	PRPS1	5631	HP:0001419	X-linked recessive inheritance
OMIM:107680	APOA1	335	HP:0000006	Autosomal dominant inheritance
OMIM:107680	APOA1	335	HP:0004398	Peptic ulcer
OMIM:107680	APOA1	335	HP:0001635	Congestive heart failure
OMIM:107680	APOA1	335	HP:0000083	Renal insufficiency
OMIM:107680	APOA1	335	HP:0001271	Polyneuropathy
OMIM:107680	APOA1	335	HP:0007759	Opacification of the corneal stroma
OMIM:616602	FGFR3	2261	HP:0000294	Low anterior hairline
OMIM:616602	FGFR3	2261	HP:0000316	Hypertelorism
OMIM:616602	FGFR3	2261	HP:0000262	Turricephaly
OMIM:616602	FGFR3	2261	HP:0001272	Cerebellar atrophy
OMIM:616602	FGFR3	2261	HP:0000348	High forehead
OMIM:616602	FGFR3	2261	HP:0000252	Microcephaly
OMIM:616602	FGFR3	2261	HP:0000270	Delayed cranial suture closure
OMIM:616602	FGFR3	2261	HP:0003298	Spina bifida occulta
OMIM:616602	FGFR3	2261	HP:0001305	Dandy-Walker malformation
OMIM:616602	FGFR3	2261	HP:0001274	Agenesis of corpus callosum
OMIM:616602	FGFR3	2261	HP:0000508	Ptosis
OMIM:616602	FGFR3	2261	HP:0002650	Scoliosis
OMIM:616602	FGFR3	2261	HP:0000407	Sensorineural hearing impairment
OMIM:616602	FGFR3	2261	HP:0001252	Muscular hypotonia
OMIM:616602	FGFR3	2261	HP:0000248	Brachycephaly
OMIM:616602	FGFR3	2261	HP:0001357	Plagiocephaly
OMIM:616602	ZIC1	7545	HP:0000294	Low anterior hairline
OMIM:616602	ZIC1	7545	HP:0000316	Hypertelorism
OMIM:616602	ZIC1	7545	HP:0000262	Turricephaly
OMIM:616602	ZIC1	7545	HP:0001272	Cerebellar atrophy
OMIM:616602	ZIC1	7545	HP:0000348	High forehead
OMIM:616602	ZIC1	7545	HP:0000252	Microcephaly
OMIM:616602	ZIC1	7545	HP:0000270	Delayed cranial suture closure
OMIM:616602	ZIC1	7545	HP:0003298	Spina bifida occulta
OMIM:616602	ZIC1	7545	HP:0001305	Dandy-Walker malformation
OMIM:616602	ZIC1	7545	HP:0001274	Agenesis of corpus callosum
OMIM:616602	ZIC1	7545	HP:0000508	Ptosis
OMIM:616602	ZIC1	7545	HP:0002650	Scoliosis
OMIM:616602	ZIC1	7545	HP:0000407	Sensorineural hearing impairment
OMIM:616602	ZIC1	7545	HP:0001252	Muscular hypotonia
OMIM:616602	ZIC1	7545	HP:0000248	Brachycephaly
OMIM:616602	ZIC1	7545	HP:0001357	Plagiocephaly
OMIM:616602	TCF12	6938	HP:0000294	Low anterior hairline
OMIM:616602	TCF12	6938	HP:0000316	Hypertelorism
OMIM:616602	TCF12	6938	HP:0000262	Turricephaly
OMIM:616602	TCF12	6938	HP:0001272	Cerebellar atrophy
OMIM:616602	TCF12	6938	HP:0000348	High forehead
OMIM:616602	TCF12	6938	HP:0000252	Microcephaly
OMIM:616602	TCF12	6938	HP:0000270	Delayed cranial suture closure
OMIM:616602	TCF12	6938	HP:0003298	Spina bifida occulta
OMIM:616602	TCF12	6938	HP:0001305	Dandy-Walker malformation
OMIM:616602	TCF12	6938	HP:0001274	Agenesis of corpus callosum
OMIM:616602	TCF12	6938	HP:0000508	Ptosis
OMIM:616602	TCF12	6938	HP:0002650	Scoliosis
OMIM:616602	TCF12	6938	HP:0000407	Sensorineural hearing impairment
OMIM:616602	TCF12	6938	HP:0001252	Muscular hypotonia
OMIM:616602	TCF12	6938	HP:0000248	Brachycephaly
OMIM:616602	TCF12	6938	HP:0001357	Plagiocephaly
OMIM:616602	TWIST1	7291	HP:0000294	Low anterior hairline
OMIM:616602	TWIST1	7291	HP:0000316	Hypertelorism
OMIM:616602	TWIST1	7291	HP:0000262	Turricephaly
OMIM:616602	TWIST1	7291	HP:0001272	Cerebellar atrophy
OMIM:616602	TWIST1	7291	HP:0000348	High forehead
OMIM:616602	TWIST1	7291	HP:0000252	Microcephaly
OMIM:616602	TWIST1	7291	HP:0000270	Delayed cranial suture closure
OMIM:616602	TWIST1	7291	HP:0003298	Spina bifida occulta
OMIM:616602	TWIST1	7291	HP:0001305	Dandy-Walker malformation
OMIM:616602	TWIST1	7291	HP:0001274	Agenesis of corpus callosum
OMIM:616602	TWIST1	7291	HP:0000508	Ptosis
OMIM:616602	TWIST1	7291	HP:0002650	Scoliosis
OMIM:616602	TWIST1	7291	HP:0000407	Sensorineural hearing impairment
OMIM:616602	TWIST1	7291	HP:0001252	Muscular hypotonia
OMIM:616602	TWIST1	7291	HP:0000248	Brachycephaly
OMIM:616602	TWIST1	7291	HP:0001357	Plagiocephaly
OMIM:604484	TFG	10342	HP:0002936	Distal sensory impairment
OMIM:604484	TFG	10342	HP:0003077	Hyperlipidemia
OMIM:604484	TFG	10342	HP:0003701	Proximal muscle weakness
OMIM:604484	TFG	10342	HP:0002445	Tetraplegia
OMIM:604484	TFG	10342	HP:0000006	Autosomal dominant inheritance
OMIM:604484	TFG	10342	HP:0001288	Gait disturbance
OMIM:604484	TFG	10342	HP:0007126	Proximal amyotrophy
OMIM:604484	TFG	10342	HP:0003581	Adult onset
OMIM:604484	TFG	10342	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:604484	TFG	10342	HP:0002171	Gliosis
OMIM:604484	TFG	10342	HP:0002380	Fasciculations
OMIM:604484	TFG	10342	HP:0003677	Slow progression
OMIM:604484	TFG	10342	HP:0002398	Degeneration of anterior horn cells
OMIM:604484	TFG	10342	HP:0009830	Peripheral neuropathy
OMIM:604484	TFG	10342	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:615809	AMPD2	271	HP:0000252	Microcephaly
OMIM:615809	AMPD2	271	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615809	AMPD2	271	HP:0100704	Cortical visual impairment
OMIM:615809	AMPD2	271	HP:0001257	Spasticity
OMIM:615809	AMPD2	271	HP:0002120	Cerebral cortical atrophy
OMIM:615809	AMPD2	271	HP:0000648	Optic atrophy
OMIM:615809	AMPD2	271	HP:0001250	Seizures
OMIM:615809	AMPD2	271	HP:0001263	Global developmental delay
OMIM:615809	AMPD2	271	HP:0008936	Muscular hypotonia of the trunk
OMIM:615809	AMPD2	271	HP:0002119	Ventriculomegaly
OMIM:615809	AMPD2	271	HP:0002169	Clonus
OMIM:600955	PCSK1	5122	HP:0000786	Primary amenorrhea
OMIM:600955	PCSK1	5122	HP:0001513	Obesity
OMIM:600955	PCSK1	5122	HP:0003812	Phenotypic variability
OMIM:600955	PCSK1	5122	HP:0002024	Malabsorption
OMIM:600955	PCSK1	5122	HP:0002014	Diarrhea
OMIM:600955	PCSK1	5122	HP:0011473	Villous atrophy
OMIM:600955	PCSK1	5122	HP:0003745	Sporadic
OMIM:600955	PCSK1	5122	HP:0000044	Hypogonadotrophic hypogonadism
ORPHANET:2591	NOTCH3	4854	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:2591	NOTCH3	4854	HP:0002894	Neoplasm of the pancreas
ORPHANET:2591	NOTCH3	4854	HP:0200042	Skin ulcer
ORPHANET:2591	NOTCH3	4854	HP:0000212	Gingival overgrowth
ORPHANET:2591	NOTCH3	4854	HP:0005107	Abnormality of the sacrum
ORPHANET:2591	NOTCH3	4854	HP:0100242	Sarcoma
ORPHANET:2591	NOTCH3	4854	HP:0100526	Neoplasm of the lung
ORPHANET:2591	NOTCH3	4854	HP:0002797	Osteolysis
ORPHANET:2591	NOTCH3	4854	HP:0000944	Abnormality of the metaphyses
ORPHANET:2591	NOTCH3	4854	HP:0000077	Abnormality of the kidney
ORPHANET:2591	NOTCH3	4854	HP:0000929	Abnormality of the skull
ORPHANET:2591	NOTCH3	4854	HP:0000765	Abnormality of the thorax
ORPHANET:2591	NOTCH3	4854	HP:0010622	Neoplasm of the skeletal system
ORPHANET:2591	NOTCH3	4854	HP:0002575	Tracheoesophageal fistula
ORPHANET:2591	NOTCH3	4854	HP:0000478	Abnormality of the eye
ORPHANET:2591	NOTCH3	4854	HP:0003072	Hypercalcemia
ORPHANET:2591	NOTCH3	4854	HP:0100835	Benign neoplasm of the central nervous system
ORPHANET:2591	NOTCH3	4854	HP:0000934	Chondrocalcinosis
ORPHANET:2591	NOTCH3	4854	HP:0003011	Abnormality of the musculature
ORPHANET:2591	NOTCH3	4854	HP:0001376	Limitation of joint mobility
ORPHANET:2591	NOTCH3	4854	HP:0007400	Irregular hyperpigmentation
ORPHANET:2591	NOTCH3	4854	HP:0005214	Intestinal obstruction
ORPHANET:2591	PDGFRB	5159	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:2591	PDGFRB	5159	HP:0002894	Neoplasm of the pancreas
ORPHANET:2591	PDGFRB	5159	HP:0200042	Skin ulcer
ORPHANET:2591	PDGFRB	5159	HP:0000212	Gingival overgrowth
ORPHANET:2591	PDGFRB	5159	HP:0005107	Abnormality of the sacrum
ORPHANET:2591	PDGFRB	5159	HP:0100242	Sarcoma
ORPHANET:2591	PDGFRB	5159	HP:0100526	Neoplasm of the lung
ORPHANET:2591	PDGFRB	5159	HP:0002797	Osteolysis
ORPHANET:2591	PDGFRB	5159	HP:0000944	Abnormality of the metaphyses
ORPHANET:2591	PDGFRB	5159	HP:0000077	Abnormality of the kidney
ORPHANET:2591	PDGFRB	5159	HP:0000929	Abnormality of the skull
ORPHANET:2591	PDGFRB	5159	HP:0000765	Abnormality of the thorax
ORPHANET:2591	PDGFRB	5159	HP:0010622	Neoplasm of the skeletal system
ORPHANET:2591	PDGFRB	5159	HP:0002575	Tracheoesophageal fistula
ORPHANET:2591	PDGFRB	5159	HP:0000478	Abnormality of the eye
ORPHANET:2591	PDGFRB	5159	HP:0003072	Hypercalcemia
ORPHANET:2591	PDGFRB	5159	HP:0100835	Benign neoplasm of the central nervous system
ORPHANET:2591	PDGFRB	5159	HP:0000934	Chondrocalcinosis
ORPHANET:2591	PDGFRB	5159	HP:0003011	Abnormality of the musculature
ORPHANET:2591	PDGFRB	5159	HP:0001376	Limitation of joint mobility
ORPHANET:2591	PDGFRB	5159	HP:0007400	Irregular hyperpigmentation
ORPHANET:2591	PDGFRB	5159	HP:0005214	Intestinal obstruction
OMIM:115900	CRYBA2	1412	HP:0000501	Glaucoma
OMIM:115900	CRYBA2	1412	HP:0000545	Myopia
OMIM:115900	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:115900	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:115900	AGK	55750	HP:0000501	Glaucoma
OMIM:115900	AGK	55750	HP:0000545	Myopia
OMIM:115900	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:115900	AGK	55750	HP:0000519	Congenital cataract
OMIM:115900	GCNT2	2651	HP:0000501	Glaucoma
OMIM:115900	GCNT2	2651	HP:0000545	Myopia
OMIM:115900	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:115900	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:217080	CNNM4	26504	HP:0000543	Optic disc pallor
OMIM:217080	CNNM4	26504	HP:0007703	Abnormality of retinal pigmentation
OMIM:217080	CNNM4	26504	HP:0000670	Carious teeth
OMIM:217080	CNNM4	26504	HP:0000662	Nyctalopia
OMIM:217080	CNNM4	26504	HP:0000613	Photophobia
OMIM:217080	CNNM4	26504	HP:0000007	Autosomal recessive inheritance
OMIM:217080	CNNM4	26504	HP:0000548	Cone/cone-rod dystrophy
OMIM:217080	CNNM4	26504	HP:0000648	Optic atrophy
OMIM:217080	CNNM4	26504	HP:0000639	Nystagmus
OMIM:217080	CNNM4	26504	HP:0000505	Visual impairment
OMIM:217080	CNNM4	26504	HP:0000551	Abnormality of color vision
OMIM:217080	CNNM4	26504	HP:0000682	Abnormality of dental enamel
OMIM:615248	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:615248	TPM1	7168	HP:0005110	Atrial fibrillation
OMIM:615248	TPM1	7168	HP:0001712	Left ventricular hypertrophy
OMIM:615248	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:615248	TPM1	7168	HP:0001653	Mitral regurgitation
OMIM:615248	TPM1	7168	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:615248	CRYAB	1410	HP:0005110	Atrial fibrillation
OMIM:615248	CRYAB	1410	HP:0001712	Left ventricular hypertrophy
OMIM:615248	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:615248	CRYAB	1410	HP:0001653	Mitral regurgitation
OMIM:615248	CRYAB	1410	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:615248	ACTC1	70	HP:0005110	Atrial fibrillation
OMIM:615248	ACTC1	70	HP:0001712	Left ventricular hypertrophy
OMIM:615248	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:615248	ACTC1	70	HP:0001653	Mitral regurgitation
OMIM:615248	ACTC1	70	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:615248	RAF1	5894	HP:0005110	Atrial fibrillation
OMIM:615248	RAF1	5894	HP:0001712	Left ventricular hypertrophy
OMIM:615248	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:615248	RAF1	5894	HP:0001653	Mitral regurgitation
OMIM:615248	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:615248	GATAD1	57798	HP:0005110	Atrial fibrillation
OMIM:615248	GATAD1	57798	HP:0001712	Left ventricular hypertrophy
OMIM:615248	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:615248	GATAD1	57798	HP:0001653	Mitral regurgitation
OMIM:615248	GATAD1	57798	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:615248	LAMA4	3910	HP:0005110	Atrial fibrillation
OMIM:615248	LAMA4	3910	HP:0001712	Left ventricular hypertrophy
OMIM:615248	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:615248	LAMA4	3910	HP:0001653	Mitral regurgitation
OMIM:615248	LAMA4	3910	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:615248	TMPO	7112	HP:0005110	Atrial fibrillation
OMIM:615248	TMPO	7112	HP:0001712	Left ventricular hypertrophy
OMIM:615248	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:615248	TMPO	7112	HP:0001653	Mitral regurgitation
OMIM:615248	TMPO	7112	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:615248	DES	1674	HP:0005110	Atrial fibrillation
OMIM:615248	DES	1674	HP:0001712	Left ventricular hypertrophy
OMIM:615248	DES	1674	HP:0001635	Congestive heart failure
OMIM:615248	DES	1674	HP:0001653	Mitral regurgitation
OMIM:615248	DES	1674	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:615248	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:615248	ABCC9	10060	HP:0001712	Left ventricular hypertrophy
OMIM:615248	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:615248	ABCC9	10060	HP:0001653	Mitral regurgitation
OMIM:615248	ABCC9	10060	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:615248	MYH6	4624	HP:0005110	Atrial fibrillation
OMIM:615248	MYH6	4624	HP:0001712	Left ventricular hypertrophy
OMIM:615248	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:615248	MYH6	4624	HP:0001653	Mitral regurgitation
OMIM:615248	MYH6	4624	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:615248	MYH7	4625	HP:0005110	Atrial fibrillation
OMIM:615248	MYH7	4625	HP:0001712	Left ventricular hypertrophy
OMIM:615248	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:615248	MYH7	4625	HP:0001653	Mitral regurgitation
OMIM:615248	MYH7	4625	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:615248	LDB3	11155	HP:0005110	Atrial fibrillation
OMIM:615248	LDB3	11155	HP:0001712	Left ventricular hypertrophy
OMIM:615248	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:615248	LDB3	11155	HP:0001653	Mitral regurgitation
OMIM:615248	LDB3	11155	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:615248	ACTN2	88	HP:0005110	Atrial fibrillation
OMIM:615248	ACTN2	88	HP:0001712	Left ventricular hypertrophy
OMIM:615248	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:615248	ACTN2	88	HP:0001653	Mitral regurgitation
OMIM:615248	ACTN2	88	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:615248	TXNRD2	10587	HP:0005110	Atrial fibrillation
OMIM:615248	TXNRD2	10587	HP:0001712	Left ventricular hypertrophy
OMIM:615248	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:615248	TXNRD2	10587	HP:0001653	Mitral regurgitation
OMIM:615248	TXNRD2	10587	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:615248	DMD	1756	HP:0005110	Atrial fibrillation
OMIM:615248	DMD	1756	HP:0001712	Left ventricular hypertrophy
OMIM:615248	DMD	1756	HP:0001635	Congestive heart failure
OMIM:615248	DMD	1756	HP:0001653	Mitral regurgitation
OMIM:615248	DMD	1756	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:615248	TNNC1	7134	HP:0005110	Atrial fibrillation
OMIM:615248	TNNC1	7134	HP:0001712	Left ventricular hypertrophy
OMIM:615248	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:615248	TNNC1	7134	HP:0001653	Mitral regurgitation
OMIM:615248	TNNC1	7134	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:615248	PSEN1	5663	HP:0005110	Atrial fibrillation
OMIM:615248	PSEN1	5663	HP:0001712	Left ventricular hypertrophy
OMIM:615248	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:615248	PSEN1	5663	HP:0001653	Mitral regurgitation
OMIM:615248	PSEN1	5663	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:615248	PSEN2	5664	HP:0005110	Atrial fibrillation
OMIM:615248	PSEN2	5664	HP:0001712	Left ventricular hypertrophy
OMIM:615248	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:615248	PSEN2	5664	HP:0001653	Mitral regurgitation
OMIM:615248	PSEN2	5664	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:615248	TNNI3	7137	HP:0005110	Atrial fibrillation
OMIM:615248	TNNI3	7137	HP:0001712	Left ventricular hypertrophy
OMIM:615248	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:615248	TNNI3	7137	HP:0001653	Mitral regurgitation
OMIM:615248	TNNI3	7137	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:615248	FHL2	2274	HP:0005110	Atrial fibrillation
OMIM:615248	FHL2	2274	HP:0001712	Left ventricular hypertrophy
OMIM:615248	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:615248	FHL2	2274	HP:0001653	Mitral regurgitation
OMIM:615248	FHL2	2274	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:615248	TNNT2	7139	HP:0005110	Atrial fibrillation
OMIM:615248	TNNT2	7139	HP:0001712	Left ventricular hypertrophy
OMIM:615248	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:615248	TNNT2	7139	HP:0001653	Mitral regurgitation
OMIM:615248	TNNT2	7139	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:615248	DSG2	1829	HP:0005110	Atrial fibrillation
OMIM:615248	DSG2	1829	HP:0001712	Left ventricular hypertrophy
OMIM:615248	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:615248	DSG2	1829	HP:0001653	Mitral regurgitation
OMIM:615248	DSG2	1829	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:615248	PLN	5350	HP:0005110	Atrial fibrillation
OMIM:615248	PLN	5350	HP:0001712	Left ventricular hypertrophy
OMIM:615248	PLN	5350	HP:0001635	Congestive heart failure
OMIM:615248	PLN	5350	HP:0001653	Mitral regurgitation
OMIM:615248	PLN	5350	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:615248	PRDM16	63976	HP:0005110	Atrial fibrillation
OMIM:615248	PRDM16	63976	HP:0001712	Left ventricular hypertrophy
OMIM:615248	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:615248	PRDM16	63976	HP:0001653	Mitral regurgitation
OMIM:615248	PRDM16	63976	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:615248	TTN	7273	HP:0005110	Atrial fibrillation
OMIM:615248	TTN	7273	HP:0001712	Left ventricular hypertrophy
OMIM:615248	TTN	7273	HP:0001635	Congestive heart failure
OMIM:615248	TTN	7273	HP:0001653	Mitral regurgitation
OMIM:615248	TTN	7273	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:615248	NEXN	91624	HP:0005110	Atrial fibrillation
OMIM:615248	NEXN	91624	HP:0001712	Left ventricular hypertrophy
OMIM:615248	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:615248	NEXN	91624	HP:0001653	Mitral regurgitation
OMIM:615248	NEXN	91624	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:615248	FKTN	2218	HP:0005110	Atrial fibrillation
OMIM:615248	FKTN	2218	HP:0001712	Left ventricular hypertrophy
OMIM:615248	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:615248	FKTN	2218	HP:0001653	Mitral regurgitation
OMIM:615248	FKTN	2218	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:615248	SGCD	6444	HP:0005110	Atrial fibrillation
OMIM:615248	SGCD	6444	HP:0001712	Left ventricular hypertrophy
OMIM:615248	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:615248	SGCD	6444	HP:0001653	Mitral regurgitation
OMIM:615248	SGCD	6444	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:615248	TCAP	8557	HP:0005110	Atrial fibrillation
OMIM:615248	TCAP	8557	HP:0001712	Left ventricular hypertrophy
OMIM:615248	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:615248	TCAP	8557	HP:0001653	Mitral regurgitation
OMIM:615248	TCAP	8557	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:615248	CSRP3	8048	HP:0005110	Atrial fibrillation
OMIM:615248	CSRP3	8048	HP:0001712	Left ventricular hypertrophy
OMIM:615248	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:615248	CSRP3	8048	HP:0001653	Mitral regurgitation
OMIM:615248	CSRP3	8048	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:615248	RBM20	282996	HP:0005110	Atrial fibrillation
OMIM:615248	RBM20	282996	HP:0001712	Left ventricular hypertrophy
OMIM:615248	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:615248	RBM20	282996	HP:0001653	Mitral regurgitation
OMIM:615248	RBM20	282996	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:615248	SDHA	6389	HP:0005110	Atrial fibrillation
OMIM:615248	SDHA	6389	HP:0001712	Left ventricular hypertrophy
OMIM:615248	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:615248	SDHA	6389	HP:0001653	Mitral regurgitation
OMIM:615248	SDHA	6389	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:615248	TAZ	6901	HP:0005110	Atrial fibrillation
OMIM:615248	TAZ	6901	HP:0001712	Left ventricular hypertrophy
OMIM:615248	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:615248	TAZ	6901	HP:0001653	Mitral regurgitation
OMIM:615248	TAZ	6901	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:615248	VCL	7414	HP:0005110	Atrial fibrillation
OMIM:615248	VCL	7414	HP:0001712	Left ventricular hypertrophy
OMIM:615248	VCL	7414	HP:0001635	Congestive heart failure
OMIM:615248	VCL	7414	HP:0001653	Mitral regurgitation
OMIM:615248	VCL	7414	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:615248	MYPN	84665	HP:0005110	Atrial fibrillation
OMIM:615248	MYPN	84665	HP:0001712	Left ventricular hypertrophy
OMIM:615248	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:615248	MYPN	84665	HP:0001653	Mitral regurgitation
OMIM:615248	MYPN	84665	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:615248	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:615248	SCN5A	6331	HP:0001712	Left ventricular hypertrophy
OMIM:615248	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:615248	SCN5A	6331	HP:0001653	Mitral regurgitation
OMIM:615248	SCN5A	6331	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:615248	BAG3	9531	HP:0005110	Atrial fibrillation
OMIM:615248	BAG3	9531	HP:0001712	Left ventricular hypertrophy
OMIM:615248	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:615248	BAG3	9531	HP:0001653	Mitral regurgitation
OMIM:615248	BAG3	9531	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:615248	DOLK	22845	HP:0005110	Atrial fibrillation
OMIM:615248	DOLK	22845	HP:0001712	Left ventricular hypertrophy
OMIM:615248	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:615248	DOLK	22845	HP:0001653	Mitral regurgitation
OMIM:615248	DOLK	22845	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615248	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:615248	MYBPC3	4607	HP:0005110	Atrial fibrillation
OMIM:615248	MYBPC3	4607	HP:0001712	Left ventricular hypertrophy
OMIM:615248	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:615248	MYBPC3	4607	HP:0001653	Mitral regurgitation
OMIM:615248	MYBPC3	4607	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611556	GYS1	2997	HP:0002069	Generalized tonic-clonic seizures
OMIM:611556	GYS1	2997	HP:0000007	Autosomal recessive inheritance
OMIM:611556	GYS1	2997	HP:0003546	Exercise intolerance
OMIM:611556	GYS1	2997	HP:0001712	Left ventricular hypertrophy
OMIM:611556	GYS1	2997	HP:0001638	Cardiomyopathy
OMIM:179900	AIPL1	23746	HP:0007875	Congenital blindness
OMIM:179900	AIPL1	23746	HP:0000006	Autosomal dominant inheritance
OMIM:179900	AIPL1	23746	HP:0001425	Heterogeneous
OMIM:179900	NMNAT1	64802	HP:0007875	Congenital blindness
OMIM:179900	NMNAT1	64802	HP:0000006	Autosomal dominant inheritance
OMIM:179900	NMNAT1	64802	HP:0001425	Heterogeneous
OMIM:179900	SPATA7	55812	HP:0007875	Congenital blindness
OMIM:179900	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:179900	SPATA7	55812	HP:0001425	Heterogeneous
OMIM:179900	RDH12	145226	HP:0007875	Congenital blindness
OMIM:179900	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:179900	RDH12	145226	HP:0001425	Heterogeneous
OMIM:179900	RPGRIP1	57096	HP:0007875	Congenital blindness
OMIM:179900	RPGRIP1	57096	HP:0000006	Autosomal dominant inheritance
OMIM:179900	RPGRIP1	57096	HP:0001425	Heterogeneous
OMIM:179900	RPE65	6121	HP:0007875	Congenital blindness
OMIM:179900	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:179900	RPE65	6121	HP:0001425	Heterogeneous
OMIM:179900	LCA5	167691	HP:0007875	Congenital blindness
OMIM:179900	LCA5	167691	HP:0000006	Autosomal dominant inheritance
OMIM:179900	LCA5	167691	HP:0001425	Heterogeneous
OMIM:179900	LRAT	9227	HP:0007875	Congenital blindness
OMIM:179900	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:179900	LRAT	9227	HP:0001425	Heterogeneous
OMIM:179900	IFT140	9742	HP:0007875	Congenital blindness
OMIM:179900	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:179900	IFT140	9742	HP:0001425	Heterogeneous
OMIM:179900	TULP1	7287	HP:0007875	Congenital blindness
OMIM:179900	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:179900	TULP1	7287	HP:0001425	Heterogeneous
OMIM:179900	GUCY2D	3000	HP:0007875	Congenital blindness
OMIM:179900	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:179900	GUCY2D	3000	HP:0001425	Heterogeneous
OMIM:179900	CEP290	80184	HP:0007875	Congenital blindness
OMIM:179900	CEP290	80184	HP:0000006	Autosomal dominant inheritance
OMIM:179900	CEP290	80184	HP:0001425	Heterogeneous
OMIM:179900	IQCB1	9657	HP:0007875	Congenital blindness
OMIM:179900	IQCB1	9657	HP:0000006	Autosomal dominant inheritance
OMIM:179900	IQCB1	9657	HP:0001425	Heterogeneous
OMIM:179900	KCNJ13	3769	HP:0007875	Congenital blindness
OMIM:179900	KCNJ13	3769	HP:0000006	Autosomal dominant inheritance
OMIM:179900	KCNJ13	3769	HP:0001425	Heterogeneous
OMIM:179900	CRB1	23418	HP:0007875	Congenital blindness
OMIM:179900	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:179900	CRB1	23418	HP:0001425	Heterogeneous
OMIM:179900	GDF6	392255	HP:0007875	Congenital blindness
OMIM:179900	GDF6	392255	HP:0000006	Autosomal dominant inheritance
OMIM:179900	GDF6	392255	HP:0001425	Heterogeneous
OMIM:179900	RD3	343035	HP:0007875	Congenital blindness
OMIM:179900	RD3	343035	HP:0000006	Autosomal dominant inheritance
OMIM:179900	RD3	343035	HP:0001425	Heterogeneous
OMIM:179900	CRX	1406	HP:0007875	Congenital blindness
OMIM:179900	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:179900	CRX	1406	HP:0001425	Heterogeneous
OMIM:179900	IMPDH1	3614	HP:0007875	Congenital blindness
OMIM:179900	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:179900	IMPDH1	3614	HP:0001425	Heterogeneous
OMIM:248340	MASP1	5648	HP:0000054	Micropenis
OMIM:248340	MASP1	5648	HP:0001510	Growth delay
OMIM:248340	MASP1	5648	HP:0002006	Facial cleft
OMIM:248340	MASP1	5648	HP:0000365	Hearing impairment
OMIM:248340	MASP1	5648	HP:0000048	Bifid scrotum
OMIM:248340	MASP1	5648	HP:0000204	Cleft upper lip
OMIM:248340	MASP1	5648	HP:0000316	Hypertelorism
OMIM:248340	MASP1	5648	HP:0000581	Blepharophimosis
OMIM:248340	MASP1	5648	HP:0000175	Cleft palate
OMIM:248340	MASP1	5648	HP:0002553	Highly arched eyebrow
OMIM:248340	MASP1	5648	HP:0000007	Autosomal recessive inheritance
OMIM:248340	MASP1	5648	HP:0000508	Ptosis
OMIM:248340	MASP1	5648	HP:0001249	Intellectual disability
OMIM:248340	COLEC11	78989	HP:0000054	Micropenis
OMIM:248340	COLEC11	78989	HP:0001510	Growth delay
OMIM:248340	COLEC11	78989	HP:0002006	Facial cleft
OMIM:248340	COLEC11	78989	HP:0000365	Hearing impairment
OMIM:248340	COLEC11	78989	HP:0000048	Bifid scrotum
OMIM:248340	COLEC11	78989	HP:0000204	Cleft upper lip
OMIM:248340	COLEC11	78989	HP:0000316	Hypertelorism
OMIM:248340	COLEC11	78989	HP:0000581	Blepharophimosis
OMIM:248340	COLEC11	78989	HP:0000175	Cleft palate
OMIM:248340	COLEC11	78989	HP:0002553	Highly arched eyebrow
OMIM:248340	COLEC11	78989	HP:0000007	Autosomal recessive inheritance
OMIM:248340	COLEC11	78989	HP:0000508	Ptosis
OMIM:248340	COLEC11	78989	HP:0001249	Intellectual disability
OMIM:616470	COL12A1	1303	HP:0001371	Flexion contracture
OMIM:616470	COL12A1	1303	HP:0001270	Motor delay
OMIM:616470	COL12A1	1303	HP:0002093	Respiratory insufficiency
OMIM:616470	COL12A1	1303	HP:0003741	Congenital muscular dystrophy
OMIM:616470	COL12A1	1303	HP:0002751	Kyphoscoliosis
OMIM:616470	COL12A1	1303	HP:0001284	Areflexia
OMIM:616470	COL12A1	1303	HP:0000218	High palate
OMIM:616470	COL12A1	1303	HP:0010628	Facial palsy
OMIM:616470	COL12A1	1303	HP:0001382	Joint hypermobility
OMIM:616470	COL6A1	1291	HP:0001371	Flexion contracture
OMIM:616470	COL6A1	1291	HP:0001270	Motor delay
OMIM:616470	COL6A1	1291	HP:0002093	Respiratory insufficiency
OMIM:616470	COL6A1	1291	HP:0003741	Congenital muscular dystrophy
OMIM:616470	COL6A1	1291	HP:0002751	Kyphoscoliosis
OMIM:616470	COL6A1	1291	HP:0001284	Areflexia
OMIM:616470	COL6A1	1291	HP:0000218	High palate
OMIM:616470	COL6A1	1291	HP:0010628	Facial palsy
OMIM:616470	COL6A1	1291	HP:0001382	Joint hypermobility
OMIM:616470	COL6A2	1292	HP:0001371	Flexion contracture
OMIM:616470	COL6A2	1292	HP:0001270	Motor delay
OMIM:616470	COL6A2	1292	HP:0002093	Respiratory insufficiency
OMIM:616470	COL6A2	1292	HP:0003741	Congenital muscular dystrophy
OMIM:616470	COL6A2	1292	HP:0002751	Kyphoscoliosis
OMIM:616470	COL6A2	1292	HP:0001284	Areflexia
OMIM:616470	COL6A2	1292	HP:0000218	High palate
OMIM:616470	COL6A2	1292	HP:0010628	Facial palsy
OMIM:616470	COL6A2	1292	HP:0001382	Joint hypermobility
OMIM:616470	COL6A3	1293	HP:0001371	Flexion contracture
OMIM:616470	COL6A3	1293	HP:0001270	Motor delay
OMIM:616470	COL6A3	1293	HP:0002093	Respiratory insufficiency
OMIM:616470	COL6A3	1293	HP:0003741	Congenital muscular dystrophy
OMIM:616470	COL6A3	1293	HP:0002751	Kyphoscoliosis
OMIM:616470	COL6A3	1293	HP:0001284	Areflexia
OMIM:616470	COL6A3	1293	HP:0000218	High palate
OMIM:616470	COL6A3	1293	HP:0010628	Facial palsy
OMIM:616470	COL6A3	1293	HP:0001382	Joint hypermobility
OMIM:602450	DCLRE1C	64421	HP:0002014	Diarrhea
OMIM:602450	DCLRE1C	64421	HP:0002788	Recurrent upper respiratory tract infections
OMIM:602450	DCLRE1C	64421	HP:0004430	Severe combined immunodeficiency
OMIM:602450	DCLRE1C	64421	HP:0000007	Autosomal recessive inheritance
OMIM:602450	DCLRE1C	64421	HP:0003139	Panhypogammaglobulinemia
OMIM:602450	DCLRE1C	64421	HP:0000388	Otitis media
OMIM:602450	DCLRE1C	64421	HP:0001508	Failure to thrive
OMIM:602450	DCLRE1C	64421	HP:0002090	Pneumonia
ORPHANET:281122	ALOXE3	59344	HP:0001376	Limitation of joint mobility
ORPHANET:281122	ALOXE3	59344	HP:0008064	Ichthyosis
ORPHANET:281122	ALOX12B	242	HP:0001376	Limitation of joint mobility
ORPHANET:281122	ALOX12B	242	HP:0008064	Ichthyosis
ORPHANET:281122	TGM1	7051	HP:0001376	Limitation of joint mobility
ORPHANET:281122	TGM1	7051	HP:0008064	Ichthyosis
OMIM:614944	MSRB3	253827	HP:0001756	Vestibular hypofunction
OMIM:614944	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:614944	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:614944	BSND	7809	HP:0001756	Vestibular hypofunction
OMIM:614944	BSND	7809	HP:0000365	Hearing impairment
OMIM:614944	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:614944	ESPN	83715	HP:0001756	Vestibular hypofunction
OMIM:614944	ESPN	83715	HP:0000365	Hearing impairment
OMIM:614944	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:614944	DFNB31	25861	HP:0001756	Vestibular hypofunction
OMIM:614944	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:614944	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:614944	OTOA	146183	HP:0001756	Vestibular hypofunction
OMIM:614944	OTOA	146183	HP:0000365	Hearing impairment
OMIM:614944	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:614944	GJA1	2697	HP:0001756	Vestibular hypofunction
OMIM:614944	GJA1	2697	HP:0000365	Hearing impairment
OMIM:614944	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:614944	MET	4233	HP:0001756	Vestibular hypofunction
OMIM:614944	MET	4233	HP:0000365	Hearing impairment
OMIM:614944	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:614944	CLDN14	23562	HP:0001756	Vestibular hypofunction
OMIM:614944	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:614944	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:614944	HGF	3082	HP:0001756	Vestibular hypofunction
OMIM:614944	HGF	3082	HP:0000365	Hearing impairment
OMIM:614944	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:614944	PNPT1	87178	HP:0001756	Vestibular hypofunction
OMIM:614944	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:614944	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:614944	EPS8	2059	HP:0001756	Vestibular hypofunction
OMIM:614944	EPS8	2059	HP:0000365	Hearing impairment
OMIM:614944	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:614944	MYO3A	53904	HP:0001756	Vestibular hypofunction
OMIM:614944	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:614944	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:614944	DCDC2	51473	HP:0001756	Vestibular hypofunction
OMIM:614944	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:614944	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:614944	GJB2	2706	HP:0001756	Vestibular hypofunction
OMIM:614944	GJB2	2706	HP:0000365	Hearing impairment
OMIM:614944	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:614944	GJB3	2707	HP:0001756	Vestibular hypofunction
OMIM:614944	GJB3	2707	HP:0000365	Hearing impairment
OMIM:614944	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:614944	CABP2	51475	HP:0001756	Vestibular hypofunction
OMIM:614944	CABP2	51475	HP:0000365	Hearing impairment
OMIM:614944	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:614944	GRXCR2	643226	HP:0001756	Vestibular hypofunction
OMIM:614944	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:614944	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:614944	SERPINB6	5269	HP:0001756	Vestibular hypofunction
OMIM:614944	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:614944	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:614944	COL11A2	1302	HP:0001756	Vestibular hypofunction
OMIM:614944	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:614944	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:614944	CIB2	10518	HP:0001756	Vestibular hypofunction
OMIM:614944	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614944	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614944	FAM65B	9750	HP:0001756	Vestibular hypofunction
OMIM:614944	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:614944	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:614944	KARS	3735	HP:0001756	Vestibular hypofunction
OMIM:614944	KARS	3735	HP:0000365	Hearing impairment
OMIM:614944	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:614944	LOXHD1	125336	HP:0001756	Vestibular hypofunction
OMIM:614944	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:614944	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:614944	TMC1	117531	HP:0001756	Vestibular hypofunction
OMIM:614944	TMC1	117531	HP:0000365	Hearing impairment
OMIM:614944	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:614944	CLIC5	53405	HP:0001756	Vestibular hypofunction
OMIM:614944	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:614944	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:614944	OTOF	9381	HP:0001756	Vestibular hypofunction
OMIM:614944	OTOF	9381	HP:0000365	Hearing impairment
OMIM:614944	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:614944	MYO6	4646	HP:0001756	Vestibular hypofunction
OMIM:614944	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614944	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614944	TMIE	259236	HP:0001756	Vestibular hypofunction
OMIM:614944	TMIE	259236	HP:0000365	Hearing impairment
OMIM:614944	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:614944	MYO7A	4647	HP:0001756	Vestibular hypofunction
OMIM:614944	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:614944	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:614944	LRTOMT	220074	HP:0001756	Vestibular hypofunction
OMIM:614944	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:614944	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:614944	OTOGL	283310	HP:0001756	Vestibular hypofunction
OMIM:614944	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:614944	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:614944	TPRN	286262	HP:0001756	Vestibular hypofunction
OMIM:614944	TPRN	286262	HP:0000365	Hearing impairment
OMIM:614944	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:614944	SLC26A4	5172	HP:0001756	Vestibular hypofunction
OMIM:614944	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:614944	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:614944	GJB6	10804	HP:0001756	Vestibular hypofunction
OMIM:614944	GJB6	10804	HP:0000365	Hearing impairment
OMIM:614944	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:614944	DFNB59	494513	HP:0001756	Vestibular hypofunction
OMIM:614944	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:614944	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:614944	ESRRB	2103	HP:0001756	Vestibular hypofunction
OMIM:614944	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:614944	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:614944	TMPRSS3	64699	HP:0001756	Vestibular hypofunction
OMIM:614944	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:614944	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:614944	PTPRQ	374462	HP:0001756	Vestibular hypofunction
OMIM:614944	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:614944	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:614944	SLC26A5	375611	HP:0001756	Vestibular hypofunction
OMIM:614944	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614944	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614944	PCDH15	65217	HP:0001756	Vestibular hypofunction
OMIM:614944	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:614944	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:614944	TSPEAR	54084	HP:0001756	Vestibular hypofunction
OMIM:614944	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:614944	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:614944	LHFPL5	222662	HP:0001756	Vestibular hypofunction
OMIM:614944	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:614944	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:614944	TRIOBP	11078	HP:0001756	Vestibular hypofunction
OMIM:614944	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:614944	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:614944	CDH23	64072	HP:0001756	Vestibular hypofunction
OMIM:614944	CDH23	64072	HP:0000365	Hearing impairment
OMIM:614944	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:614944	RDX	5962	HP:0001756	Vestibular hypofunction
OMIM:614944	RDX	5962	HP:0000365	Hearing impairment
OMIM:614944	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:614944	GPSM2	29899	HP:0001756	Vestibular hypofunction
OMIM:614944	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:614944	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:614944	ELMOD3	84173	HP:0001756	Vestibular hypofunction
OMIM:614944	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:614944	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:614944	ILDR1	286676	HP:0001756	Vestibular hypofunction
OMIM:614944	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:614944	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:614944	GRXCR1	389207	HP:0001756	Vestibular hypofunction
OMIM:614944	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:614944	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:614944	MARVELD2	153562	HP:0001756	Vestibular hypofunction
OMIM:614944	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:614944	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:614944	STRC	161497	HP:0001756	Vestibular hypofunction
OMIM:614944	STRC	161497	HP:0000365	Hearing impairment
OMIM:614944	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:614944	SLITRK6	84189	HP:0001756	Vestibular hypofunction
OMIM:614944	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:614944	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614944	TECTA	7007	HP:0001756	Vestibular hypofunction
OMIM:614944	TECTA	7007	HP:0000365	Hearing impairment
OMIM:614944	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:614944	MYO15A	51168	HP:0001756	Vestibular hypofunction
OMIM:614944	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:614944	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:614944	USH1C	10083	HP:0001756	Vestibular hypofunction
OMIM:614944	USH1C	10083	HP:0000365	Hearing impairment
OMIM:614944	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:614944	ADCY1	107	HP:0001756	Vestibular hypofunction
OMIM:614944	ADCY1	107	HP:0000365	Hearing impairment
OMIM:614944	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:614944	SYNE4	163183	HP:0001756	Vestibular hypofunction
OMIM:614944	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:614944	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:614944	GIPC3	126326	HP:0001756	Vestibular hypofunction
OMIM:614944	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:614944	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:614944	TBC1D24	57465	HP:0001756	Vestibular hypofunction
OMIM:614944	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:614944	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:614944	OTOG	340990	HP:0001756	Vestibular hypofunction
OMIM:614944	OTOG	340990	HP:0000365	Hearing impairment
OMIM:614944	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:616187	KCNC1	3746	HP:0001268	Mental deterioration
OMIM:616187	KCNC1	3746	HP:0001250	Seizures
OMIM:616187	KCNC1	3746	HP:0001336	Myoclonus
OMIM:616187	KCNC1	3746	HP:0001272	Cerebellar atrophy
OMIM:616187	KCNC1	3746	HP:0001337	Tremor
OMIM:616187	KCNC1	3746	HP:0001251	Ataxia
OMIM:255120	CPT1A	1374	HP:0003119	Abnormality of lipid metabolism
OMIM:255120	CPT1A	1374	HP:0001252	Muscular hypotonia
OMIM:255120	CPT1A	1374	HP:0001259	Coma
OMIM:255120	CPT1A	1374	HP:0008872	Feeding difficulties in infancy
OMIM:255120	CPT1A	1374	HP:0001399	Hepatic failure
OMIM:255120	CPT1A	1374	HP:0001943	Hypoglycemia
OMIM:255120	CPT1A	1374	HP:0001640	Cardiomegaly
OMIM:255120	CPT1A	1374	HP:0002014	Diarrhea
OMIM:255120	CPT1A	1374	HP:0011675	Arrhythmia
OMIM:255120	CPT1A	1374	HP:0001639	Hypertrophic cardiomyopathy
OMIM:255120	CPT1A	1374	HP:0000708	Behavioral abnormality
OMIM:255120	CPT1A	1374	HP:0002686	Prenatal maternal abnormality
OMIM:255120	CPT1A	1374	HP:0000091	Abnormality of the renal tubule
OMIM:255120	CPT1A	1374	HP:0001250	Seizures
OMIM:255120	CPT1A	1374	HP:0002910	Elevated hepatic transaminases
OMIM:255120	CPT1A	1374	HP:0001987	Hyperammonemia
OMIM:255120	CPT1A	1374	HP:0003202	Skeletal muscle atrophy
OMIM:255120	CPT1A	1374	HP:0004374	Hemiplegia/hemiparesis
OMIM:255120	CPT1A	1374	HP:0002240	Hepatomegaly
OMIM:255120	CPT1A	1374	HP:0001645	Sudden cardiac death
OMIM:255120	CPT1A	1374	HP:0001397	Hepatic steatosis
OMIM:255120	CPT1A	1374	HP:0002167	Neurological speech impairment
OMIM:255120	CPT1A	1374	HP:0004372	Reduced consciousness/confusion
OMIM:255120	CPT1A	1374	HP:0001315	Reduced tendon reflexes
OMIM:255120	CPT1A	1374	HP:0001254	Lethargy
OMIM:255120	CPT1A	1374	HP:0000007	Autosomal recessive inheritance
OMIM:255120	CPT1A	1374	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613720	KCNB1	3745	HP:0000006	Autosomal dominant inheritance
OMIM:613720	KCNB1	3745	HP:0001332	Dystonia
OMIM:613720	KCNB1	3745	HP:0001263	Global developmental delay
OMIM:613720	KCNB1	3745	HP:0003593	Infantile onset
OMIM:613720	KCNB1	3745	HP:0001252	Muscular hypotonia
OMIM:613720	KCNB1	3745	HP:0001249	Intellectual disability
OMIM:613720	KCNB1	3745	HP:0001285	Spastic tetraparesis
OMIM:613720	KCNB1	3745	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:613720	KCNB1	3745	HP:0001250	Seizures
OMIM:613720	PIGQ	9091	HP:0000006	Autosomal dominant inheritance
OMIM:613720	PIGQ	9091	HP:0001332	Dystonia
OMIM:613720	PIGQ	9091	HP:0001263	Global developmental delay
OMIM:613720	PIGQ	9091	HP:0003593	Infantile onset
OMIM:613720	PIGQ	9091	HP:0001252	Muscular hypotonia
OMIM:613720	PIGQ	9091	HP:0001249	Intellectual disability
OMIM:613720	PIGQ	9091	HP:0001285	Spastic tetraparesis
OMIM:613720	PIGQ	9091	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:613720	PIGQ	9091	HP:0001250	Seizures
OMIM:613720	SLC25A22	79751	HP:0000006	Autosomal dominant inheritance
OMIM:613720	SLC25A22	79751	HP:0001332	Dystonia
OMIM:613720	SLC25A22	79751	HP:0001263	Global developmental delay
OMIM:613720	SLC25A22	79751	HP:0003593	Infantile onset
OMIM:613720	SLC25A22	79751	HP:0001252	Muscular hypotonia
OMIM:613720	SLC25A22	79751	HP:0001249	Intellectual disability
OMIM:613720	SLC25A22	79751	HP:0001285	Spastic tetraparesis
OMIM:613720	SLC25A22	79751	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:613720	SLC25A22	79751	HP:0001250	Seizures
OMIM:613720	CDKL5	6792	HP:0000006	Autosomal dominant inheritance
OMIM:613720	CDKL5	6792	HP:0001332	Dystonia
OMIM:613720	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:613720	CDKL5	6792	HP:0003593	Infantile onset
OMIM:613720	CDKL5	6792	HP:0001252	Muscular hypotonia
OMIM:613720	CDKL5	6792	HP:0001249	Intellectual disability
OMIM:613720	CDKL5	6792	HP:0001285	Spastic tetraparesis
OMIM:613720	CDKL5	6792	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:613720	CDKL5	6792	HP:0001250	Seizures
OMIM:613720	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:613720	KCNQ2	3785	HP:0001332	Dystonia
OMIM:613720	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:613720	KCNQ2	3785	HP:0003593	Infantile onset
OMIM:613720	KCNQ2	3785	HP:0001252	Muscular hypotonia
OMIM:613720	KCNQ2	3785	HP:0001249	Intellectual disability
OMIM:613720	KCNQ2	3785	HP:0001285	Spastic tetraparesis
OMIM:613720	KCNQ2	3785	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:613720	KCNQ2	3785	HP:0001250	Seizures
OMIM:613720	SLC13A5	284111	HP:0000006	Autosomal dominant inheritance
OMIM:613720	SLC13A5	284111	HP:0001332	Dystonia
OMIM:613720	SLC13A5	284111	HP:0001263	Global developmental delay
OMIM:613720	SLC13A5	284111	HP:0003593	Infantile onset
OMIM:613720	SLC13A5	284111	HP:0001252	Muscular hypotonia
OMIM:613720	SLC13A5	284111	HP:0001249	Intellectual disability
OMIM:613720	SLC13A5	284111	HP:0001285	Spastic tetraparesis
OMIM:613720	SLC13A5	284111	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:613720	SLC13A5	284111	HP:0001250	Seizures
OMIM:613720	SIK1	150094	HP:0000006	Autosomal dominant inheritance
OMIM:613720	SIK1	150094	HP:0001332	Dystonia
OMIM:613720	SIK1	150094	HP:0001263	Global developmental delay
OMIM:613720	SIK1	150094	HP:0003593	Infantile onset
OMIM:613720	SIK1	150094	HP:0001252	Muscular hypotonia
OMIM:613720	SIK1	150094	HP:0001249	Intellectual disability
OMIM:613720	SIK1	150094	HP:0001285	Spastic tetraparesis
OMIM:613720	SIK1	150094	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:613720	SIK1	150094	HP:0001250	Seizures
OMIM:613720	HCN1	348980	HP:0000006	Autosomal dominant inheritance
OMIM:613720	HCN1	348980	HP:0001332	Dystonia
OMIM:613720	HCN1	348980	HP:0001263	Global developmental delay
OMIM:613720	HCN1	348980	HP:0003593	Infantile onset
OMIM:613720	HCN1	348980	HP:0001252	Muscular hypotonia
OMIM:613720	HCN1	348980	HP:0001249	Intellectual disability
OMIM:613720	HCN1	348980	HP:0001285	Spastic tetraparesis
OMIM:613720	HCN1	348980	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:613720	HCN1	348980	HP:0001250	Seizures
OMIM:613720	PNKP	11284	HP:0000006	Autosomal dominant inheritance
OMIM:613720	PNKP	11284	HP:0001332	Dystonia
OMIM:613720	PNKP	11284	HP:0001263	Global developmental delay
OMIM:613720	PNKP	11284	HP:0003593	Infantile onset
OMIM:613720	PNKP	11284	HP:0001252	Muscular hypotonia
OMIM:613720	PNKP	11284	HP:0001249	Intellectual disability
OMIM:613720	PNKP	11284	HP:0001285	Spastic tetraparesis
OMIM:613720	PNKP	11284	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:613720	PNKP	11284	HP:0001250	Seizures
OMIM:613720	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:613720	SCN2A	6326	HP:0001332	Dystonia
OMIM:613720	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:613720	SCN2A	6326	HP:0003593	Infantile onset
OMIM:613720	SCN2A	6326	HP:0001252	Muscular hypotonia
OMIM:613720	SCN2A	6326	HP:0001249	Intellectual disability
OMIM:613720	SCN2A	6326	HP:0001285	Spastic tetraparesis
OMIM:613720	SCN2A	6326	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:613720	SCN2A	6326	HP:0001250	Seizures
OMIM:613720	GNAO1	2775	HP:0000006	Autosomal dominant inheritance
OMIM:613720	GNAO1	2775	HP:0001332	Dystonia
OMIM:613720	GNAO1	2775	HP:0001263	Global developmental delay
OMIM:613720	GNAO1	2775	HP:0003593	Infantile onset
OMIM:613720	GNAO1	2775	HP:0001252	Muscular hypotonia
OMIM:613720	GNAO1	2775	HP:0001249	Intellectual disability
OMIM:613720	GNAO1	2775	HP:0001285	Spastic tetraparesis
OMIM:613720	GNAO1	2775	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:613720	GNAO1	2775	HP:0001250	Seizures
OMIM:613720	NECAP1	25977	HP:0000006	Autosomal dominant inheritance
OMIM:613720	NECAP1	25977	HP:0001332	Dystonia
OMIM:613720	NECAP1	25977	HP:0001263	Global developmental delay
OMIM:613720	NECAP1	25977	HP:0003593	Infantile onset
OMIM:613720	NECAP1	25977	HP:0001252	Muscular hypotonia
OMIM:613720	NECAP1	25977	HP:0001249	Intellectual disability
OMIM:613720	NECAP1	25977	HP:0001285	Spastic tetraparesis
OMIM:613720	NECAP1	25977	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:613720	NECAP1	25977	HP:0001250	Seizures
OMIM:613720	ARX	170302	HP:0000006	Autosomal dominant inheritance
OMIM:613720	ARX	170302	HP:0001332	Dystonia
OMIM:613720	ARX	170302	HP:0001263	Global developmental delay
OMIM:613720	ARX	170302	HP:0003593	Infantile onset
OMIM:613720	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:613720	ARX	170302	HP:0001249	Intellectual disability
OMIM:613720	ARX	170302	HP:0001285	Spastic tetraparesis
OMIM:613720	ARX	170302	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:613720	ARX	170302	HP:0001250	Seizures
OMIM:613720	STXBP1	6812	HP:0000006	Autosomal dominant inheritance
OMIM:613720	STXBP1	6812	HP:0001332	Dystonia
OMIM:613720	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:613720	STXBP1	6812	HP:0003593	Infantile onset
OMIM:613720	STXBP1	6812	HP:0001252	Muscular hypotonia
OMIM:613720	STXBP1	6812	HP:0001249	Intellectual disability
OMIM:613720	STXBP1	6812	HP:0001285	Spastic tetraparesis
OMIM:613720	STXBP1	6812	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:613720	STXBP1	6812	HP:0001250	Seizures
OMIM:613720	WWOX	51741	HP:0000006	Autosomal dominant inheritance
OMIM:613720	WWOX	51741	HP:0001332	Dystonia
OMIM:613720	WWOX	51741	HP:0001263	Global developmental delay
OMIM:613720	WWOX	51741	HP:0003593	Infantile onset
OMIM:613720	WWOX	51741	HP:0001252	Muscular hypotonia
OMIM:613720	WWOX	51741	HP:0001249	Intellectual disability
OMIM:613720	WWOX	51741	HP:0001285	Spastic tetraparesis
OMIM:613720	WWOX	51741	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:613720	WWOX	51741	HP:0001250	Seizures
OMIM:613720	CASK	8573	HP:0000006	Autosomal dominant inheritance
OMIM:613720	CASK	8573	HP:0001332	Dystonia
OMIM:613720	CASK	8573	HP:0001263	Global developmental delay
OMIM:613720	CASK	8573	HP:0003593	Infantile onset
OMIM:613720	CASK	8573	HP:0001252	Muscular hypotonia
OMIM:613720	CASK	8573	HP:0001249	Intellectual disability
OMIM:613720	CASK	8573	HP:0001285	Spastic tetraparesis
OMIM:613720	CASK	8573	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:613720	CASK	8573	HP:0001250	Seizures
OMIM:613720	SCN8A	6334	HP:0000006	Autosomal dominant inheritance
OMIM:613720	SCN8A	6334	HP:0001332	Dystonia
OMIM:613720	SCN8A	6334	HP:0001263	Global developmental delay
OMIM:613720	SCN8A	6334	HP:0003593	Infantile onset
OMIM:613720	SCN8A	6334	HP:0001252	Muscular hypotonia
OMIM:613720	SCN8A	6334	HP:0001249	Intellectual disability
OMIM:613720	SCN8A	6334	HP:0001285	Spastic tetraparesis
OMIM:613720	SCN8A	6334	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:613720	SCN8A	6334	HP:0001250	Seizures
OMIM:613720	DNM1	1759	HP:0000006	Autosomal dominant inheritance
OMIM:613720	DNM1	1759	HP:0001332	Dystonia
OMIM:613720	DNM1	1759	HP:0001263	Global developmental delay
OMIM:613720	DNM1	1759	HP:0003593	Infantile onset
OMIM:613720	DNM1	1759	HP:0001252	Muscular hypotonia
OMIM:613720	DNM1	1759	HP:0001249	Intellectual disability
OMIM:613720	DNM1	1759	HP:0001285	Spastic tetraparesis
OMIM:613720	DNM1	1759	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613720	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:613720	DNM1	1759	HP:0001250	Seizures
OMIM:615990	MKKS	8195	HP:0010442	Polydactyly
OMIM:615990	MKKS	8195	HP:0001263	Global developmental delay
OMIM:615990	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615990	MKKS	8195	HP:0001513	Obesity
OMIM:615990	MKKS	8195	HP:0001249	Intellectual disability
OMIM:615990	NPHP1	4867	HP:0010442	Polydactyly
OMIM:615990	NPHP1	4867	HP:0001263	Global developmental delay
OMIM:615990	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615990	NPHP1	4867	HP:0001513	Obesity
OMIM:615990	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:615990	BBIP1	92482	HP:0010442	Polydactyly
OMIM:615990	BBIP1	92482	HP:0001263	Global developmental delay
OMIM:615990	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615990	BBIP1	92482	HP:0001513	Obesity
OMIM:615990	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:615990	ARL6	84100	HP:0010442	Polydactyly
OMIM:615990	ARL6	84100	HP:0001263	Global developmental delay
OMIM:615990	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615990	ARL6	84100	HP:0001513	Obesity
OMIM:615990	ARL6	84100	HP:0001249	Intellectual disability
OMIM:615990	BBS1	582	HP:0010442	Polydactyly
OMIM:615990	BBS1	582	HP:0001263	Global developmental delay
OMIM:615990	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615990	BBS1	582	HP:0001513	Obesity
OMIM:615990	BBS1	582	HP:0001249	Intellectual disability
OMIM:615990	BBS2	583	HP:0010442	Polydactyly
OMIM:615990	BBS2	583	HP:0001263	Global developmental delay
OMIM:615990	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615990	BBS2	583	HP:0001513	Obesity
OMIM:615990	BBS2	583	HP:0001249	Intellectual disability
OMIM:615990	BBS4	585	HP:0010442	Polydactyly
OMIM:615990	BBS4	585	HP:0001263	Global developmental delay
OMIM:615990	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615990	BBS4	585	HP:0001513	Obesity
OMIM:615990	BBS4	585	HP:0001249	Intellectual disability
OMIM:615990	BBS9	27241	HP:0010442	Polydactyly
OMIM:615990	BBS9	27241	HP:0001263	Global developmental delay
OMIM:615990	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615990	BBS9	27241	HP:0001513	Obesity
OMIM:615990	BBS9	27241	HP:0001249	Intellectual disability
OMIM:615990	TTC8	123016	HP:0010442	Polydactyly
OMIM:615990	TTC8	123016	HP:0001263	Global developmental delay
OMIM:615990	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615990	TTC8	123016	HP:0001513	Obesity
OMIM:615990	TTC8	123016	HP:0001249	Intellectual disability
OMIM:615990	BBS12	166379	HP:0010442	Polydactyly
OMIM:615990	BBS12	166379	HP:0001263	Global developmental delay
OMIM:615990	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615990	BBS12	166379	HP:0001513	Obesity
OMIM:615990	BBS12	166379	HP:0001249	Intellectual disability
OMIM:615990	TRIM32	22954	HP:0010442	Polydactyly
OMIM:615990	TRIM32	22954	HP:0001263	Global developmental delay
OMIM:615990	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615990	TRIM32	22954	HP:0001513	Obesity
OMIM:615990	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:615990	BBS7	55212	HP:0010442	Polydactyly
OMIM:615990	BBS7	55212	HP:0001263	Global developmental delay
OMIM:615990	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615990	BBS7	55212	HP:0001513	Obesity
OMIM:615990	BBS7	55212	HP:0001249	Intellectual disability
OMIM:615990	IFT27	11020	HP:0010442	Polydactyly
OMIM:615990	IFT27	11020	HP:0001263	Global developmental delay
OMIM:615990	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615990	IFT27	11020	HP:0001513	Obesity
OMIM:615990	IFT27	11020	HP:0001249	Intellectual disability
OMIM:615990	IFT172	26160	HP:0010442	Polydactyly
OMIM:615990	IFT172	26160	HP:0001263	Global developmental delay
OMIM:615990	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615990	IFT172	26160	HP:0001513	Obesity
OMIM:615990	IFT172	26160	HP:0001249	Intellectual disability
OMIM:615990	WDPCP	51057	HP:0010442	Polydactyly
OMIM:615990	WDPCP	51057	HP:0001263	Global developmental delay
OMIM:615990	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615990	WDPCP	51057	HP:0001513	Obesity
OMIM:615990	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:615990	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:615990	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:615990	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615990	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615990	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:615990	MKS1	54903	HP:0010442	Polydactyly
OMIM:615990	MKS1	54903	HP:0001263	Global developmental delay
OMIM:615990	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615990	MKS1	54903	HP:0001513	Obesity
OMIM:615990	MKS1	54903	HP:0001249	Intellectual disability
OMIM:615990	BBS5	129880	HP:0010442	Polydactyly
OMIM:615990	BBS5	129880	HP:0001263	Global developmental delay
OMIM:615990	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615990	BBS5	129880	HP:0001513	Obesity
OMIM:615990	BBS5	129880	HP:0001249	Intellectual disability
OMIM:615990	CEP290	80184	HP:0010442	Polydactyly
OMIM:615990	CEP290	80184	HP:0001263	Global developmental delay
OMIM:615990	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615990	CEP290	80184	HP:0001513	Obesity
OMIM:615990	CEP290	80184	HP:0001249	Intellectual disability
OMIM:615990	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:615990	LZTFL1	54585	HP:0001263	Global developmental delay
OMIM:615990	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615990	LZTFL1	54585	HP:0001513	Obesity
OMIM:615990	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:615990	BBS10	79738	HP:0010442	Polydactyly
OMIM:615990	BBS10	79738	HP:0001263	Global developmental delay
OMIM:615990	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615990	BBS10	79738	HP:0001513	Obesity
OMIM:615990	BBS10	79738	HP:0001249	Intellectual disability
OMIM:615846	SAMHD1	25939	HP:0011968	Feeding difficulties
OMIM:615846	SAMHD1	25939	HP:0010702	Increased antibody level in blood
OMIM:615846	SAMHD1	25939	HP:0001873	Thrombocytopenia
OMIM:615846	SAMHD1	25939	HP:0002059	Cerebral atrophy
OMIM:615846	SAMHD1	25939	HP:0000252	Microcephaly
OMIM:615846	SAMHD1	25939	HP:0002376	Developmental regression
OMIM:615846	SAMHD1	25939	HP:0001511	Intrauterine growth retardation
OMIM:615846	SAMHD1	25939	HP:0001744	Splenomegaly
OMIM:615846	SAMHD1	25939	HP:0002633	Vasculitis
OMIM:615846	SAMHD1	25939	HP:0000100	Nephrotic syndrome
OMIM:615846	SAMHD1	25939	HP:0001344	Absent speech
OMIM:615846	SAMHD1	25939	HP:0008936	Muscular hypotonia of the trunk
OMIM:615846	SAMHD1	25939	HP:0001249	Intellectual disability
OMIM:615846	SAMHD1	25939	HP:0001250	Seizures
OMIM:615846	SAMHD1	25939	HP:0001263	Global developmental delay
OMIM:615846	SAMHD1	25939	HP:0001047	Atopic dermatitis
OMIM:615846	SAMHD1	25939	HP:0002240	Hepatomegaly
OMIM:615846	SAMHD1	25939	HP:0002135	Basal ganglia calcification
OMIM:615846	SAMHD1	25939	HP:0001285	Spastic tetraparesis
OMIM:615846	SAMHD1	25939	HP:0000496	Abnormality of eye movement
OMIM:615846	SAMHD1	25939	HP:0000737	Irritability
OMIM:615846	SAMHD1	25939	HP:0001332	Dystonia
OMIM:615846	RNASEH2B	79621	HP:0011968	Feeding difficulties
OMIM:615846	RNASEH2B	79621	HP:0010702	Increased antibody level in blood
OMIM:615846	RNASEH2B	79621	HP:0001873	Thrombocytopenia
OMIM:615846	RNASEH2B	79621	HP:0002059	Cerebral atrophy
OMIM:615846	RNASEH2B	79621	HP:0000252	Microcephaly
OMIM:615846	RNASEH2B	79621	HP:0002376	Developmental regression
OMIM:615846	RNASEH2B	79621	HP:0001511	Intrauterine growth retardation
OMIM:615846	RNASEH2B	79621	HP:0001744	Splenomegaly
OMIM:615846	RNASEH2B	79621	HP:0002633	Vasculitis
OMIM:615846	RNASEH2B	79621	HP:0000100	Nephrotic syndrome
OMIM:615846	RNASEH2B	79621	HP:0001344	Absent speech
OMIM:615846	RNASEH2B	79621	HP:0008936	Muscular hypotonia of the trunk
OMIM:615846	RNASEH2B	79621	HP:0001249	Intellectual disability
OMIM:615846	RNASEH2B	79621	HP:0001250	Seizures
OMIM:615846	RNASEH2B	79621	HP:0001263	Global developmental delay
OMIM:615846	RNASEH2B	79621	HP:0001047	Atopic dermatitis
OMIM:615846	RNASEH2B	79621	HP:0002240	Hepatomegaly
OMIM:615846	RNASEH2B	79621	HP:0002135	Basal ganglia calcification
OMIM:615846	RNASEH2B	79621	HP:0001285	Spastic tetraparesis
OMIM:615846	RNASEH2B	79621	HP:0000496	Abnormality of eye movement
OMIM:615846	RNASEH2B	79621	HP:0000737	Irritability
OMIM:615846	RNASEH2B	79621	HP:0001332	Dystonia
OMIM:615846	IFIH1	64135	HP:0011968	Feeding difficulties
OMIM:615846	IFIH1	64135	HP:0010702	Increased antibody level in blood
OMIM:615846	IFIH1	64135	HP:0001873	Thrombocytopenia
OMIM:615846	IFIH1	64135	HP:0002059	Cerebral atrophy
OMIM:615846	IFIH1	64135	HP:0000252	Microcephaly
OMIM:615846	IFIH1	64135	HP:0002376	Developmental regression
OMIM:615846	IFIH1	64135	HP:0001511	Intrauterine growth retardation
OMIM:615846	IFIH1	64135	HP:0001744	Splenomegaly
OMIM:615846	IFIH1	64135	HP:0002633	Vasculitis
OMIM:615846	IFIH1	64135	HP:0000100	Nephrotic syndrome
OMIM:615846	IFIH1	64135	HP:0001344	Absent speech
OMIM:615846	IFIH1	64135	HP:0008936	Muscular hypotonia of the trunk
OMIM:615846	IFIH1	64135	HP:0001249	Intellectual disability
OMIM:615846	IFIH1	64135	HP:0001250	Seizures
OMIM:615846	IFIH1	64135	HP:0001263	Global developmental delay
OMIM:615846	IFIH1	64135	HP:0001047	Atopic dermatitis
OMIM:615846	IFIH1	64135	HP:0002240	Hepatomegaly
OMIM:615846	IFIH1	64135	HP:0002135	Basal ganglia calcification
OMIM:615846	IFIH1	64135	HP:0001285	Spastic tetraparesis
OMIM:615846	IFIH1	64135	HP:0000496	Abnormality of eye movement
OMIM:615846	IFIH1	64135	HP:0000737	Irritability
OMIM:615846	IFIH1	64135	HP:0001332	Dystonia
OMIM:615846	RNASEH2A	10535	HP:0011968	Feeding difficulties
OMIM:615846	RNASEH2A	10535	HP:0010702	Increased antibody level in blood
OMIM:615846	RNASEH2A	10535	HP:0001873	Thrombocytopenia
OMIM:615846	RNASEH2A	10535	HP:0002059	Cerebral atrophy
OMIM:615846	RNASEH2A	10535	HP:0000252	Microcephaly
OMIM:615846	RNASEH2A	10535	HP:0002376	Developmental regression
OMIM:615846	RNASEH2A	10535	HP:0001511	Intrauterine growth retardation
OMIM:615846	RNASEH2A	10535	HP:0001744	Splenomegaly
OMIM:615846	RNASEH2A	10535	HP:0002633	Vasculitis
OMIM:615846	RNASEH2A	10535	HP:0000100	Nephrotic syndrome
OMIM:615846	RNASEH2A	10535	HP:0001344	Absent speech
OMIM:615846	RNASEH2A	10535	HP:0008936	Muscular hypotonia of the trunk
OMIM:615846	RNASEH2A	10535	HP:0001249	Intellectual disability
OMIM:615846	RNASEH2A	10535	HP:0001250	Seizures
OMIM:615846	RNASEH2A	10535	HP:0001263	Global developmental delay
OMIM:615846	RNASEH2A	10535	HP:0001047	Atopic dermatitis
OMIM:615846	RNASEH2A	10535	HP:0002240	Hepatomegaly
OMIM:615846	RNASEH2A	10535	HP:0002135	Basal ganglia calcification
OMIM:615846	RNASEH2A	10535	HP:0001285	Spastic tetraparesis
OMIM:615846	RNASEH2A	10535	HP:0000496	Abnormality of eye movement
OMIM:615846	RNASEH2A	10535	HP:0000737	Irritability
OMIM:615846	RNASEH2A	10535	HP:0001332	Dystonia
OMIM:615846	ADAR	103	HP:0011968	Feeding difficulties
OMIM:615846	ADAR	103	HP:0010702	Increased antibody level in blood
OMIM:615846	ADAR	103	HP:0001873	Thrombocytopenia
OMIM:615846	ADAR	103	HP:0002059	Cerebral atrophy
OMIM:615846	ADAR	103	HP:0000252	Microcephaly
OMIM:615846	ADAR	103	HP:0002376	Developmental regression
OMIM:615846	ADAR	103	HP:0001511	Intrauterine growth retardation
OMIM:615846	ADAR	103	HP:0001744	Splenomegaly
OMIM:615846	ADAR	103	HP:0002633	Vasculitis
OMIM:615846	ADAR	103	HP:0000100	Nephrotic syndrome
OMIM:615846	ADAR	103	HP:0001344	Absent speech
OMIM:615846	ADAR	103	HP:0008936	Muscular hypotonia of the trunk
OMIM:615846	ADAR	103	HP:0001249	Intellectual disability
OMIM:615846	ADAR	103	HP:0001250	Seizures
OMIM:615846	ADAR	103	HP:0001263	Global developmental delay
OMIM:615846	ADAR	103	HP:0001047	Atopic dermatitis
OMIM:615846	ADAR	103	HP:0002240	Hepatomegaly
OMIM:615846	ADAR	103	HP:0002135	Basal ganglia calcification
OMIM:615846	ADAR	103	HP:0001285	Spastic tetraparesis
OMIM:615846	ADAR	103	HP:0000496	Abnormality of eye movement
OMIM:615846	ADAR	103	HP:0000737	Irritability
OMIM:615846	ADAR	103	HP:0001332	Dystonia
OMIM:615846	RNASEH2C	84153	HP:0011968	Feeding difficulties
OMIM:615846	RNASEH2C	84153	HP:0010702	Increased antibody level in blood
OMIM:615846	RNASEH2C	84153	HP:0001873	Thrombocytopenia
OMIM:615846	RNASEH2C	84153	HP:0002059	Cerebral atrophy
OMIM:615846	RNASEH2C	84153	HP:0000252	Microcephaly
OMIM:615846	RNASEH2C	84153	HP:0002376	Developmental regression
OMIM:615846	RNASEH2C	84153	HP:0001511	Intrauterine growth retardation
OMIM:615846	RNASEH2C	84153	HP:0001744	Splenomegaly
OMIM:615846	RNASEH2C	84153	HP:0002633	Vasculitis
OMIM:615846	RNASEH2C	84153	HP:0000100	Nephrotic syndrome
OMIM:615846	RNASEH2C	84153	HP:0001344	Absent speech
OMIM:615846	RNASEH2C	84153	HP:0008936	Muscular hypotonia of the trunk
OMIM:615846	RNASEH2C	84153	HP:0001249	Intellectual disability
OMIM:615846	RNASEH2C	84153	HP:0001250	Seizures
OMIM:615846	RNASEH2C	84153	HP:0001263	Global developmental delay
OMIM:615846	RNASEH2C	84153	HP:0001047	Atopic dermatitis
OMIM:615846	RNASEH2C	84153	HP:0002240	Hepatomegaly
OMIM:615846	RNASEH2C	84153	HP:0002135	Basal ganglia calcification
OMIM:615846	RNASEH2C	84153	HP:0001285	Spastic tetraparesis
OMIM:615846	RNASEH2C	84153	HP:0000496	Abnormality of eye movement
OMIM:615846	RNASEH2C	84153	HP:0000737	Irritability
OMIM:615846	RNASEH2C	84153	HP:0001332	Dystonia
OMIM:615846	TREX1	11277	HP:0011968	Feeding difficulties
OMIM:615846	TREX1	11277	HP:0010702	Increased antibody level in blood
OMIM:615846	TREX1	11277	HP:0001873	Thrombocytopenia
OMIM:615846	TREX1	11277	HP:0002059	Cerebral atrophy
OMIM:615846	TREX1	11277	HP:0000252	Microcephaly
OMIM:615846	TREX1	11277	HP:0002376	Developmental regression
OMIM:615846	TREX1	11277	HP:0001511	Intrauterine growth retardation
OMIM:615846	TREX1	11277	HP:0001744	Splenomegaly
OMIM:615846	TREX1	11277	HP:0002633	Vasculitis
OMIM:615846	TREX1	11277	HP:0000100	Nephrotic syndrome
OMIM:615846	TREX1	11277	HP:0001344	Absent speech
OMIM:615846	TREX1	11277	HP:0008936	Muscular hypotonia of the trunk
OMIM:615846	TREX1	11277	HP:0001249	Intellectual disability
OMIM:615846	TREX1	11277	HP:0001250	Seizures
OMIM:615846	TREX1	11277	HP:0001263	Global developmental delay
OMIM:615846	TREX1	11277	HP:0001047	Atopic dermatitis
OMIM:615846	TREX1	11277	HP:0002240	Hepatomegaly
OMIM:615846	TREX1	11277	HP:0002135	Basal ganglia calcification
OMIM:615846	TREX1	11277	HP:0001285	Spastic tetraparesis
OMIM:615846	TREX1	11277	HP:0000496	Abnormality of eye movement
OMIM:615846	TREX1	11277	HP:0000737	Irritability
OMIM:615846	TREX1	11277	HP:0001332	Dystonia
OMIM:236700	MKKS	8195	HP:0000003	Multicystic kidney dysplasia
OMIM:236700	MKKS	8195	HP:0001156	Brachydactyly syndrome
OMIM:236700	MKKS	8195	HP:0001162	Postaxial hand polydactyly
OMIM:236700	MKKS	8195	HP:0001163	Abnormality of the metacarpal bones
OMIM:236700	MKKS	8195	HP:0100589	Urogenital fistula
OMIM:236700	MKKS	8195	HP:0001374	Congenital hip dislocation
OMIM:236700	MKKS	8195	HP:0001631	Atria septal defect
OMIM:236700	MKKS	8195	HP:0000126	Hydronephrosis
OMIM:236700	MKKS	8195	HP:0000175	Cleft palate
OMIM:236700	MKKS	8195	HP:0002251	Aganglionic megacolon
OMIM:236700	MKKS	8195	HP:0000028	Cryptorchidism
OMIM:236700	MKKS	8195	HP:0000072	Hydroureter
OMIM:236700	MKKS	8195	HP:0001629	Ventricular septal defect
OMIM:236700	MKKS	8195	HP:0002023	Anal atresia
OMIM:236700	MKKS	8195	HP:0002089	Pulmonary hypoplasia
OMIM:236700	MKKS	8195	HP:0000969	Edema
OMIM:236700	MKKS	8195	HP:0006101	Finger syndactyly
OMIM:236700	MKKS	8195	HP:0000007	Autosomal recessive inheritance
OMIM:236700	MKKS	8195	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:236700	MKKS	8195	HP:0100627	Displacement of the external urethral meatus
OMIM:236700	MKKS	8195	HP:0008368	Tarsal synostosis
OMIM:236700	MKKS	8195	HP:0001643	Patent ductus arteriosus
OMIM:236700	MKKS	8195	HP:0100779	Urogenital sinus anomaly
OMIM:236700	MKKS	8195	HP:0004322	Short stature
OMIM:236700	MKKS	8195	HP:0001636	Tetralogy of Fallot
OMIM:236700	MKKS	8195	HP:0000143	Rectovaginal fistula
OMIM:236700	MKKS	8195	HP:0008678	Renal hypoplasia/aplasia
OMIM:236700	MKKS	8195	HP:0000148	Vaginal atresia
OMIM:236700	MKKS	8195	HP:0001159	Syndactyly
OMIM:236700	MKKS	8195	HP:0100543	Cognitive impairment
OMIM:236700	MKKS	8195	HP:0004383	Hypoplastic left heart
OMIM:236700	MKKS	8195	HP:0000113	Polycystic kidney dysplasia
OMIM:300855	NAA10	8260	HP:0000215	Thick upper lip vermilion
OMIM:300855	NAA10	8260	HP:0004415	Pulmonary artery stenosis
OMIM:300855	NAA10	8260	HP:0004756	Ventricular tachycardia
OMIM:300855	NAA10	8260	HP:0002213	Fine hair
OMIM:300855	NAA10	8260	HP:0006682	Ventricular extrasystoles
OMIM:300855	NAA10	8260	HP:0001631	Atria septal defect
OMIM:300855	NAA10	8260	HP:0004755	Supraventricular tachycardia
OMIM:300855	NAA10	8260	HP:0001276	Hypertonia
OMIM:300855	NAA10	8260	HP:0000494	Downslanted palpebral fissures
OMIM:300855	NAA10	8260	HP:0000308	Microretrognathia
OMIM:300855	NAA10	8260	HP:0001419	X-linked recessive inheritance
OMIM:300855	NAA10	8260	HP:0001664	Torsade de pointes
OMIM:300855	NAA10	8260	HP:0005288	Abnormality of the nares
OMIM:300855	NAA10	8260	HP:0001582	Redundant skin
OMIM:300855	NAA10	8260	HP:0010055	Broad hallux
OMIM:300855	NAA10	8260	HP:0000535	Sparse eyebrow
OMIM:300855	NAA10	8260	HP:0000520	Proptosis
OMIM:300855	NAA10	8260	HP:0002650	Scoliosis
OMIM:300855	NAA10	8260	HP:0001629	Ventricular septal defect
OMIM:300855	NAA10	8260	HP:0000430	Underdeveloped nasal alae
OMIM:300855	NAA10	8260	HP:0008897	Postnatal growth retardation
OMIM:300855	NAA10	8260	HP:0000023	Inguinal hernia
OMIM:300855	NAA10	8260	HP:0002059	Cerebral atrophy
OMIM:300855	NAA10	8260	HP:0000028	Cryptorchidism
OMIM:300855	NAA10	8260	HP:0000400	Macrotia
OMIM:300855	NAA10	8260	HP:0000270	Delayed cranial suture closure
OMIM:614937	NOL3	8996	HP:0003677	Slow progression
OMIM:614937	NOL3	8996	HP:0000006	Autosomal dominant inheritance
OMIM:614937	NOL3	8996	HP:0002527	Falls
OMIM:614937	NOL3	8996	HP:0001336	Myoclonus
OMIM:614937	NOL3	8996	HP:0003581	Adult onset
OMIM:609384	TUBB2B	347733	HP:0002553	Highly arched eyebrow
OMIM:609384	TUBB2B	347733	HP:0000006	Autosomal dominant inheritance
OMIM:609384	TUBB2B	347733	HP:0001249	Intellectual disability
OMIM:609384	TUBB2B	347733	HP:0000767	Pectus excavatum
OMIM:609384	TUBB2B	347733	HP:0009891	Underdeveloped supraorbital ridges
OMIM:609384	TUBB2B	347733	HP:0002808	Kyphosis
OMIM:609384	TUBB2B	347733	HP:0000219	Thin upper lip vermilion
OMIM:609384	PHOX2A	401	HP:0002553	Highly arched eyebrow
OMIM:609384	PHOX2A	401	HP:0000006	Autosomal dominant inheritance
OMIM:609384	PHOX2A	401	HP:0001249	Intellectual disability
OMIM:609384	PHOX2A	401	HP:0000767	Pectus excavatum
OMIM:609384	PHOX2A	401	HP:0009891	Underdeveloped supraorbital ridges
OMIM:609384	PHOX2A	401	HP:0002808	Kyphosis
OMIM:609384	PHOX2A	401	HP:0000219	Thin upper lip vermilion
OMIM:609384	KIF21A	55605	HP:0002553	Highly arched eyebrow
OMIM:609384	KIF21A	55605	HP:0000006	Autosomal dominant inheritance
OMIM:609384	KIF21A	55605	HP:0001249	Intellectual disability
OMIM:609384	KIF21A	55605	HP:0000767	Pectus excavatum
OMIM:609384	KIF21A	55605	HP:0009891	Underdeveloped supraorbital ridges
OMIM:609384	KIF21A	55605	HP:0002808	Kyphosis
OMIM:609384	KIF21A	55605	HP:0000219	Thin upper lip vermilion
OMIM:609384	COL25A1	84570	HP:0002553	Highly arched eyebrow
OMIM:609384	COL25A1	84570	HP:0000006	Autosomal dominant inheritance
OMIM:609384	COL25A1	84570	HP:0001249	Intellectual disability
OMIM:609384	COL25A1	84570	HP:0000767	Pectus excavatum
OMIM:609384	COL25A1	84570	HP:0009891	Underdeveloped supraorbital ridges
OMIM:609384	COL25A1	84570	HP:0002808	Kyphosis
OMIM:609384	COL25A1	84570	HP:0000219	Thin upper lip vermilion
OMIM:609384	TUBB3	10381	HP:0002553	Highly arched eyebrow
OMIM:609384	TUBB3	10381	HP:0000006	Autosomal dominant inheritance
OMIM:609384	TUBB3	10381	HP:0001249	Intellectual disability
OMIM:609384	TUBB3	10381	HP:0000767	Pectus excavatum
OMIM:609384	TUBB3	10381	HP:0009891	Underdeveloped supraorbital ridges
OMIM:609384	TUBB3	10381	HP:0002808	Kyphosis
OMIM:609384	TUBB3	10381	HP:0000219	Thin upper lip vermilion
OMIM:606664	GNMT	27232	HP:0002910	Elevated hepatic transaminases
OMIM:606664	GNMT	27232	HP:0003235	Hypermethioninemia
OMIM:606664	GNMT	27232	HP:0000007	Autosomal recessive inheritance
OMIM:606664	GNMT	27232	HP:0002240	Hepatomegaly
ORPHANET:776	MED12	9968	HP:0000053	Macroorchidism
ORPHANET:776	MED12	9968	HP:0000347	Micrognathia
ORPHANET:776	MED12	9968	HP:0000275	Narrow face
ORPHANET:776	MED12	9968	HP:0000767	Pectus excavatum
ORPHANET:776	MED12	9968	HP:0000164	Abnormality of the teeth
ORPHANET:776	MED12	9968	HP:0000322	Short philtrum
ORPHANET:776	MED12	9968	HP:0100543	Cognitive impairment
ORPHANET:776	MED12	9968	HP:0001631	Atria septal defect
ORPHANET:776	MED12	9968	HP:0000738	Hallucinations
ORPHANET:776	MED12	9968	HP:0001166	Arachnodactyly
ORPHANET:776	MED12	9968	HP:0000174	Abnormality of the palate
ORPHANET:776	MED12	9968	HP:0002648	Abnormality of calvarial morphology
ORPHANET:776	MED12	9968	HP:0001252	Muscular hypotonia
ORPHANET:776	MED12	9968	HP:0000348	High forehead
ORPHANET:776	MED12	9968	HP:0001156	Brachydactyly syndrome
ORPHANET:776	MED12	9968	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:776	MED12	9968	HP:0000256	Macrocephaly
ORPHANET:776	MED12	9968	HP:0002167	Neurological speech impairment
ORPHANET:776	MED12	9968	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:776	MED12	9968	HP:0000377	Abnormality of the pinna
ORPHANET:776	MED12	9968	HP:0002650	Scoliosis
ORPHANET:776	MED12	9968	HP:0001382	Joint hypermobility
ORPHANET:776	MED12	9968	HP:0100490	Camptodactyly of finger
ORPHANET:776	MED12	9968	HP:0001608	Abnormality of the voice
ORPHANET:776	MED12	9968	HP:0001250	Seizures
ORPHANET:776	MED12	9968	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:776	MED12	9968	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:776	MED12	9968	HP:0000426	Prominent nasal bridge
ORPHANET:776	UPF3B	65109	HP:0000053	Macroorchidism
ORPHANET:776	UPF3B	65109	HP:0000347	Micrognathia
ORPHANET:776	UPF3B	65109	HP:0000275	Narrow face
ORPHANET:776	UPF3B	65109	HP:0000767	Pectus excavatum
ORPHANET:776	UPF3B	65109	HP:0000164	Abnormality of the teeth
ORPHANET:776	UPF3B	65109	HP:0000322	Short philtrum
ORPHANET:776	UPF3B	65109	HP:0100543	Cognitive impairment
ORPHANET:776	UPF3B	65109	HP:0001631	Atria septal defect
ORPHANET:776	UPF3B	65109	HP:0000738	Hallucinations
ORPHANET:776	UPF3B	65109	HP:0001166	Arachnodactyly
ORPHANET:776	UPF3B	65109	HP:0000174	Abnormality of the palate
ORPHANET:776	UPF3B	65109	HP:0002648	Abnormality of calvarial morphology
ORPHANET:776	UPF3B	65109	HP:0001252	Muscular hypotonia
ORPHANET:776	UPF3B	65109	HP:0000348	High forehead
ORPHANET:776	UPF3B	65109	HP:0001156	Brachydactyly syndrome
ORPHANET:776	UPF3B	65109	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:776	UPF3B	65109	HP:0000256	Macrocephaly
ORPHANET:776	UPF3B	65109	HP:0002167	Neurological speech impairment
ORPHANET:776	UPF3B	65109	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:776	UPF3B	65109	HP:0000377	Abnormality of the pinna
ORPHANET:776	UPF3B	65109	HP:0002650	Scoliosis
ORPHANET:776	UPF3B	65109	HP:0001382	Joint hypermobility
ORPHANET:776	UPF3B	65109	HP:0100490	Camptodactyly of finger
ORPHANET:776	UPF3B	65109	HP:0001608	Abnormality of the voice
ORPHANET:776	UPF3B	65109	HP:0001250	Seizures
ORPHANET:776	UPF3B	65109	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:776	UPF3B	65109	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:776	UPF3B	65109	HP:0000426	Prominent nasal bridge
ORPHANET:776	ZDHHC9	51114	HP:0000053	Macroorchidism
ORPHANET:776	ZDHHC9	51114	HP:0000347	Micrognathia
ORPHANET:776	ZDHHC9	51114	HP:0000275	Narrow face
ORPHANET:776	ZDHHC9	51114	HP:0000767	Pectus excavatum
ORPHANET:776	ZDHHC9	51114	HP:0000164	Abnormality of the teeth
ORPHANET:776	ZDHHC9	51114	HP:0000322	Short philtrum
ORPHANET:776	ZDHHC9	51114	HP:0100543	Cognitive impairment
ORPHANET:776	ZDHHC9	51114	HP:0001631	Atria septal defect
ORPHANET:776	ZDHHC9	51114	HP:0000738	Hallucinations
ORPHANET:776	ZDHHC9	51114	HP:0001166	Arachnodactyly
ORPHANET:776	ZDHHC9	51114	HP:0000174	Abnormality of the palate
ORPHANET:776	ZDHHC9	51114	HP:0002648	Abnormality of calvarial morphology
ORPHANET:776	ZDHHC9	51114	HP:0001252	Muscular hypotonia
ORPHANET:776	ZDHHC9	51114	HP:0000348	High forehead
ORPHANET:776	ZDHHC9	51114	HP:0001156	Brachydactyly syndrome
ORPHANET:776	ZDHHC9	51114	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:776	ZDHHC9	51114	HP:0000256	Macrocephaly
ORPHANET:776	ZDHHC9	51114	HP:0002167	Neurological speech impairment
ORPHANET:776	ZDHHC9	51114	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:776	ZDHHC9	51114	HP:0000377	Abnormality of the pinna
ORPHANET:776	ZDHHC9	51114	HP:0002650	Scoliosis
ORPHANET:776	ZDHHC9	51114	HP:0001382	Joint hypermobility
ORPHANET:776	ZDHHC9	51114	HP:0100490	Camptodactyly of finger
ORPHANET:776	ZDHHC9	51114	HP:0001608	Abnormality of the voice
ORPHANET:776	ZDHHC9	51114	HP:0001250	Seizures
ORPHANET:776	ZDHHC9	51114	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:776	ZDHHC9	51114	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:776	ZDHHC9	51114	HP:0000426	Prominent nasal bridge
OMIM:609646	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:609646	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:609646	MSRB3	253827	HP:0003680	Nonprogressive
OMIM:609646	MSRB3	253827	HP:0003593	Infantile onset
OMIM:609646	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:609646	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:609646	BSND	7809	HP:0003680	Nonprogressive
OMIM:609646	BSND	7809	HP:0003593	Infantile onset
OMIM:609646	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:609646	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:609646	ESPN	83715	HP:0003680	Nonprogressive
OMIM:609646	ESPN	83715	HP:0003593	Infantile onset
OMIM:609646	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:609646	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:609646	DFNB31	25861	HP:0003680	Nonprogressive
OMIM:609646	DFNB31	25861	HP:0003593	Infantile onset
OMIM:609646	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:609646	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:609646	OTOA	146183	HP:0003680	Nonprogressive
OMIM:609646	OTOA	146183	HP:0003593	Infantile onset
OMIM:609646	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:609646	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:609646	GJA1	2697	HP:0003680	Nonprogressive
OMIM:609646	GJA1	2697	HP:0003593	Infantile onset
OMIM:609646	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:609646	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:609646	MET	4233	HP:0003680	Nonprogressive
OMIM:609646	MET	4233	HP:0003593	Infantile onset
OMIM:609646	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:609646	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:609646	CLDN14	23562	HP:0003680	Nonprogressive
OMIM:609646	CLDN14	23562	HP:0003593	Infantile onset
OMIM:609646	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:609646	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:609646	HGF	3082	HP:0003680	Nonprogressive
OMIM:609646	HGF	3082	HP:0003593	Infantile onset
OMIM:609646	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:609646	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:609646	PNPT1	87178	HP:0003680	Nonprogressive
OMIM:609646	PNPT1	87178	HP:0003593	Infantile onset
OMIM:609646	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:609646	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:609646	EPS8	2059	HP:0003680	Nonprogressive
OMIM:609646	EPS8	2059	HP:0003593	Infantile onset
OMIM:609646	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:609646	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:609646	MYO3A	53904	HP:0003680	Nonprogressive
OMIM:609646	MYO3A	53904	HP:0003593	Infantile onset
OMIM:609646	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:609646	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:609646	DCDC2	51473	HP:0003680	Nonprogressive
OMIM:609646	DCDC2	51473	HP:0003593	Infantile onset
OMIM:609646	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:609646	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:609646	GJB2	2706	HP:0003680	Nonprogressive
OMIM:609646	GJB2	2706	HP:0003593	Infantile onset
OMIM:609646	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:609646	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:609646	GJB3	2707	HP:0003680	Nonprogressive
OMIM:609646	GJB3	2707	HP:0003593	Infantile onset
OMIM:609646	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:609646	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:609646	CABP2	51475	HP:0003680	Nonprogressive
OMIM:609646	CABP2	51475	HP:0003593	Infantile onset
OMIM:609646	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:609646	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:609646	GRXCR2	643226	HP:0003680	Nonprogressive
OMIM:609646	GRXCR2	643226	HP:0003593	Infantile onset
OMIM:609646	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:609646	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:609646	SERPINB6	5269	HP:0003680	Nonprogressive
OMIM:609646	SERPINB6	5269	HP:0003593	Infantile onset
OMIM:609646	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:609646	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:609646	COL11A2	1302	HP:0003680	Nonprogressive
OMIM:609646	COL11A2	1302	HP:0003593	Infantile onset
OMIM:609646	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:609646	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:609646	CIB2	10518	HP:0003680	Nonprogressive
OMIM:609646	CIB2	10518	HP:0003593	Infantile onset
OMIM:609646	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:609646	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:609646	FAM65B	9750	HP:0003680	Nonprogressive
OMIM:609646	FAM65B	9750	HP:0003593	Infantile onset
OMIM:609646	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:609646	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:609646	KARS	3735	HP:0003680	Nonprogressive
OMIM:609646	KARS	3735	HP:0003593	Infantile onset
OMIM:609646	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:609646	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:609646	LOXHD1	125336	HP:0003680	Nonprogressive
OMIM:609646	LOXHD1	125336	HP:0003593	Infantile onset
OMIM:609646	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:609646	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:609646	TMC1	117531	HP:0003680	Nonprogressive
OMIM:609646	TMC1	117531	HP:0003593	Infantile onset
OMIM:609646	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:609646	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:609646	CLIC5	53405	HP:0003680	Nonprogressive
OMIM:609646	CLIC5	53405	HP:0003593	Infantile onset
OMIM:609646	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:609646	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:609646	OTOF	9381	HP:0003680	Nonprogressive
OMIM:609646	OTOF	9381	HP:0003593	Infantile onset
OMIM:609646	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:609646	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:609646	MYO6	4646	HP:0003680	Nonprogressive
OMIM:609646	MYO6	4646	HP:0003593	Infantile onset
OMIM:609646	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:609646	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:609646	TMIE	259236	HP:0003680	Nonprogressive
OMIM:609646	TMIE	259236	HP:0003593	Infantile onset
OMIM:609646	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:609646	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:609646	MYO7A	4647	HP:0003680	Nonprogressive
OMIM:609646	MYO7A	4647	HP:0003593	Infantile onset
OMIM:609646	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:609646	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:609646	LRTOMT	220074	HP:0003680	Nonprogressive
OMIM:609646	LRTOMT	220074	HP:0003593	Infantile onset
OMIM:609646	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:609646	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:609646	OTOGL	283310	HP:0003680	Nonprogressive
OMIM:609646	OTOGL	283310	HP:0003593	Infantile onset
OMIM:609646	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:609646	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:609646	TPRN	286262	HP:0003680	Nonprogressive
OMIM:609646	TPRN	286262	HP:0003593	Infantile onset
OMIM:609646	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:609646	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:609646	SLC26A4	5172	HP:0003680	Nonprogressive
OMIM:609646	SLC26A4	5172	HP:0003593	Infantile onset
OMIM:609646	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:609646	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:609646	GJB6	10804	HP:0003680	Nonprogressive
OMIM:609646	GJB6	10804	HP:0003593	Infantile onset
OMIM:609646	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:609646	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:609646	DFNB59	494513	HP:0003680	Nonprogressive
OMIM:609646	DFNB59	494513	HP:0003593	Infantile onset
OMIM:609646	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:609646	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:609646	ESRRB	2103	HP:0003680	Nonprogressive
OMIM:609646	ESRRB	2103	HP:0003593	Infantile onset
OMIM:609646	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:609646	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:609646	TMPRSS3	64699	HP:0003680	Nonprogressive
OMIM:609646	TMPRSS3	64699	HP:0003593	Infantile onset
OMIM:609646	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:609646	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:609646	PTPRQ	374462	HP:0003680	Nonprogressive
OMIM:609646	PTPRQ	374462	HP:0003593	Infantile onset
OMIM:609646	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:609646	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:609646	SLC26A5	375611	HP:0003680	Nonprogressive
OMIM:609646	SLC26A5	375611	HP:0003593	Infantile onset
OMIM:609646	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:609646	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:609646	PCDH15	65217	HP:0003680	Nonprogressive
OMIM:609646	PCDH15	65217	HP:0003593	Infantile onset
OMIM:609646	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:609646	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:609646	TSPEAR	54084	HP:0003680	Nonprogressive
OMIM:609646	TSPEAR	54084	HP:0003593	Infantile onset
OMIM:609646	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:609646	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:609646	LHFPL5	222662	HP:0003680	Nonprogressive
OMIM:609646	LHFPL5	222662	HP:0003593	Infantile onset
OMIM:609646	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:609646	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:609646	TRIOBP	11078	HP:0003680	Nonprogressive
OMIM:609646	TRIOBP	11078	HP:0003593	Infantile onset
OMIM:609646	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:609646	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:609646	CDH23	64072	HP:0003680	Nonprogressive
OMIM:609646	CDH23	64072	HP:0003593	Infantile onset
OMIM:609646	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:609646	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:609646	RDX	5962	HP:0003680	Nonprogressive
OMIM:609646	RDX	5962	HP:0003593	Infantile onset
OMIM:609646	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:609646	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:609646	GPSM2	29899	HP:0003680	Nonprogressive
OMIM:609646	GPSM2	29899	HP:0003593	Infantile onset
OMIM:609646	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:609646	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:609646	ELMOD3	84173	HP:0003680	Nonprogressive
OMIM:609646	ELMOD3	84173	HP:0003593	Infantile onset
OMIM:609646	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:609646	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:609646	ILDR1	286676	HP:0003680	Nonprogressive
OMIM:609646	ILDR1	286676	HP:0003593	Infantile onset
OMIM:609646	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:609646	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:609646	GRXCR1	389207	HP:0003680	Nonprogressive
OMIM:609646	GRXCR1	389207	HP:0003593	Infantile onset
OMIM:609646	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:609646	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:609646	MARVELD2	153562	HP:0003680	Nonprogressive
OMIM:609646	MARVELD2	153562	HP:0003593	Infantile onset
OMIM:609646	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:609646	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:609646	STRC	161497	HP:0003680	Nonprogressive
OMIM:609646	STRC	161497	HP:0003593	Infantile onset
OMIM:609646	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:609646	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:609646	SLITRK6	84189	HP:0003680	Nonprogressive
OMIM:609646	SLITRK6	84189	HP:0003593	Infantile onset
OMIM:609646	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:609646	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:609646	TECTA	7007	HP:0003680	Nonprogressive
OMIM:609646	TECTA	7007	HP:0003593	Infantile onset
OMIM:609646	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:609646	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:609646	MYO15A	51168	HP:0003680	Nonprogressive
OMIM:609646	MYO15A	51168	HP:0003593	Infantile onset
OMIM:609646	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:609646	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:609646	USH1C	10083	HP:0003680	Nonprogressive
OMIM:609646	USH1C	10083	HP:0003593	Infantile onset
OMIM:609646	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:609646	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:609646	ADCY1	107	HP:0003680	Nonprogressive
OMIM:609646	ADCY1	107	HP:0003593	Infantile onset
OMIM:609646	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:609646	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:609646	SYNE4	163183	HP:0003680	Nonprogressive
OMIM:609646	SYNE4	163183	HP:0003593	Infantile onset
OMIM:609646	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:609646	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:609646	GIPC3	126326	HP:0003680	Nonprogressive
OMIM:609646	GIPC3	126326	HP:0003593	Infantile onset
OMIM:609646	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:609646	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:609646	TBC1D24	57465	HP:0003680	Nonprogressive
OMIM:609646	TBC1D24	57465	HP:0003593	Infantile onset
OMIM:609646	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:609646	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:609646	OTOG	340990	HP:0003680	Nonprogressive
OMIM:609646	OTOG	340990	HP:0003593	Infantile onset
OMIM:615983	MKKS	8195	HP:0001159	Syndactyly
OMIM:615983	MKKS	8195	HP:0100543	Cognitive impairment
OMIM:615983	MKKS	8195	HP:0001156	Brachydactyly syndrome
OMIM:615983	MKKS	8195	HP:0010442	Polydactyly
OMIM:615983	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615983	MKKS	8195	HP:0000135	Hypogonadism
OMIM:615983	MKKS	8195	HP:0001513	Obesity
OMIM:615983	MKKS	8195	HP:0003241	External genital hypoplasia
OMIM:615983	NPHP1	4867	HP:0001159	Syndactyly
OMIM:615983	NPHP1	4867	HP:0100543	Cognitive impairment
OMIM:615983	NPHP1	4867	HP:0001156	Brachydactyly syndrome
OMIM:615983	NPHP1	4867	HP:0010442	Polydactyly
OMIM:615983	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615983	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:615983	NPHP1	4867	HP:0001513	Obesity
OMIM:615983	NPHP1	4867	HP:0003241	External genital hypoplasia
OMIM:615983	BBIP1	92482	HP:0001159	Syndactyly
OMIM:615983	BBIP1	92482	HP:0100543	Cognitive impairment
OMIM:615983	BBIP1	92482	HP:0001156	Brachydactyly syndrome
OMIM:615983	BBIP1	92482	HP:0010442	Polydactyly
OMIM:615983	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615983	BBIP1	92482	HP:0000135	Hypogonadism
OMIM:615983	BBIP1	92482	HP:0001513	Obesity
OMIM:615983	BBIP1	92482	HP:0003241	External genital hypoplasia
OMIM:615983	ARL6	84100	HP:0001159	Syndactyly
OMIM:615983	ARL6	84100	HP:0100543	Cognitive impairment
OMIM:615983	ARL6	84100	HP:0001156	Brachydactyly syndrome
OMIM:615983	ARL6	84100	HP:0010442	Polydactyly
OMIM:615983	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615983	ARL6	84100	HP:0000135	Hypogonadism
OMIM:615983	ARL6	84100	HP:0001513	Obesity
OMIM:615983	ARL6	84100	HP:0003241	External genital hypoplasia
OMIM:615983	BBS1	582	HP:0001159	Syndactyly
OMIM:615983	BBS1	582	HP:0100543	Cognitive impairment
OMIM:615983	BBS1	582	HP:0001156	Brachydactyly syndrome
OMIM:615983	BBS1	582	HP:0010442	Polydactyly
OMIM:615983	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615983	BBS1	582	HP:0000135	Hypogonadism
OMIM:615983	BBS1	582	HP:0001513	Obesity
OMIM:615983	BBS1	582	HP:0003241	External genital hypoplasia
OMIM:615983	BBS2	583	HP:0001159	Syndactyly
OMIM:615983	BBS2	583	HP:0100543	Cognitive impairment
OMIM:615983	BBS2	583	HP:0001156	Brachydactyly syndrome
OMIM:615983	BBS2	583	HP:0010442	Polydactyly
OMIM:615983	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615983	BBS2	583	HP:0000135	Hypogonadism
OMIM:615983	BBS2	583	HP:0001513	Obesity
OMIM:615983	BBS2	583	HP:0003241	External genital hypoplasia
OMIM:615983	BBS4	585	HP:0001159	Syndactyly
OMIM:615983	BBS4	585	HP:0100543	Cognitive impairment
OMIM:615983	BBS4	585	HP:0001156	Brachydactyly syndrome
OMIM:615983	BBS4	585	HP:0010442	Polydactyly
OMIM:615983	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615983	BBS4	585	HP:0000135	Hypogonadism
OMIM:615983	BBS4	585	HP:0001513	Obesity
OMIM:615983	BBS4	585	HP:0003241	External genital hypoplasia
OMIM:615983	BBS9	27241	HP:0001159	Syndactyly
OMIM:615983	BBS9	27241	HP:0100543	Cognitive impairment
OMIM:615983	BBS9	27241	HP:0001156	Brachydactyly syndrome
OMIM:615983	BBS9	27241	HP:0010442	Polydactyly
OMIM:615983	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615983	BBS9	27241	HP:0000135	Hypogonadism
OMIM:615983	BBS9	27241	HP:0001513	Obesity
OMIM:615983	BBS9	27241	HP:0003241	External genital hypoplasia
OMIM:615983	TTC8	123016	HP:0001159	Syndactyly
OMIM:615983	TTC8	123016	HP:0100543	Cognitive impairment
OMIM:615983	TTC8	123016	HP:0001156	Brachydactyly syndrome
OMIM:615983	TTC8	123016	HP:0010442	Polydactyly
OMIM:615983	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615983	TTC8	123016	HP:0000135	Hypogonadism
OMIM:615983	TTC8	123016	HP:0001513	Obesity
OMIM:615983	TTC8	123016	HP:0003241	External genital hypoplasia
OMIM:615983	BBS12	166379	HP:0001159	Syndactyly
OMIM:615983	BBS12	166379	HP:0100543	Cognitive impairment
OMIM:615983	BBS12	166379	HP:0001156	Brachydactyly syndrome
OMIM:615983	BBS12	166379	HP:0010442	Polydactyly
OMIM:615983	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615983	BBS12	166379	HP:0000135	Hypogonadism
OMIM:615983	BBS12	166379	HP:0001513	Obesity
OMIM:615983	BBS12	166379	HP:0003241	External genital hypoplasia
OMIM:615983	TRIM32	22954	HP:0001159	Syndactyly
OMIM:615983	TRIM32	22954	HP:0100543	Cognitive impairment
OMIM:615983	TRIM32	22954	HP:0001156	Brachydactyly syndrome
OMIM:615983	TRIM32	22954	HP:0010442	Polydactyly
OMIM:615983	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615983	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:615983	TRIM32	22954	HP:0001513	Obesity
OMIM:615983	TRIM32	22954	HP:0003241	External genital hypoplasia
OMIM:615983	BBS7	55212	HP:0001159	Syndactyly
OMIM:615983	BBS7	55212	HP:0100543	Cognitive impairment
OMIM:615983	BBS7	55212	HP:0001156	Brachydactyly syndrome
OMIM:615983	BBS7	55212	HP:0010442	Polydactyly
OMIM:615983	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615983	BBS7	55212	HP:0000135	Hypogonadism
OMIM:615983	BBS7	55212	HP:0001513	Obesity
OMIM:615983	BBS7	55212	HP:0003241	External genital hypoplasia
OMIM:615983	IFT27	11020	HP:0001159	Syndactyly
OMIM:615983	IFT27	11020	HP:0100543	Cognitive impairment
OMIM:615983	IFT27	11020	HP:0001156	Brachydactyly syndrome
OMIM:615983	IFT27	11020	HP:0010442	Polydactyly
OMIM:615983	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615983	IFT27	11020	HP:0000135	Hypogonadism
OMIM:615983	IFT27	11020	HP:0001513	Obesity
OMIM:615983	IFT27	11020	HP:0003241	External genital hypoplasia
OMIM:615983	IFT172	26160	HP:0001159	Syndactyly
OMIM:615983	IFT172	26160	HP:0100543	Cognitive impairment
OMIM:615983	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:615983	IFT172	26160	HP:0010442	Polydactyly
OMIM:615983	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615983	IFT172	26160	HP:0000135	Hypogonadism
OMIM:615983	IFT172	26160	HP:0001513	Obesity
OMIM:615983	IFT172	26160	HP:0003241	External genital hypoplasia
OMIM:615983	WDPCP	51057	HP:0001159	Syndactyly
OMIM:615983	WDPCP	51057	HP:0100543	Cognitive impairment
OMIM:615983	WDPCP	51057	HP:0001156	Brachydactyly syndrome
OMIM:615983	WDPCP	51057	HP:0010442	Polydactyly
OMIM:615983	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615983	WDPCP	51057	HP:0000135	Hypogonadism
OMIM:615983	WDPCP	51057	HP:0001513	Obesity
OMIM:615983	WDPCP	51057	HP:0003241	External genital hypoplasia
OMIM:615983	SDCCAG8	10806	HP:0001159	Syndactyly
OMIM:615983	SDCCAG8	10806	HP:0100543	Cognitive impairment
OMIM:615983	SDCCAG8	10806	HP:0001156	Brachydactyly syndrome
OMIM:615983	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:615983	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615983	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:615983	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615983	SDCCAG8	10806	HP:0003241	External genital hypoplasia
OMIM:615983	MKS1	54903	HP:0001159	Syndactyly
OMIM:615983	MKS1	54903	HP:0100543	Cognitive impairment
OMIM:615983	MKS1	54903	HP:0001156	Brachydactyly syndrome
OMIM:615983	MKS1	54903	HP:0010442	Polydactyly
OMIM:615983	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615983	MKS1	54903	HP:0000135	Hypogonadism
OMIM:615983	MKS1	54903	HP:0001513	Obesity
OMIM:615983	MKS1	54903	HP:0003241	External genital hypoplasia
OMIM:615983	BBS5	129880	HP:0001159	Syndactyly
OMIM:615983	BBS5	129880	HP:0100543	Cognitive impairment
OMIM:615983	BBS5	129880	HP:0001156	Brachydactyly syndrome
OMIM:615983	BBS5	129880	HP:0010442	Polydactyly
OMIM:615983	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615983	BBS5	129880	HP:0000135	Hypogonadism
OMIM:615983	BBS5	129880	HP:0001513	Obesity
OMIM:615983	BBS5	129880	HP:0003241	External genital hypoplasia
OMIM:615983	CEP290	80184	HP:0001159	Syndactyly
OMIM:615983	CEP290	80184	HP:0100543	Cognitive impairment
OMIM:615983	CEP290	80184	HP:0001156	Brachydactyly syndrome
OMIM:615983	CEP290	80184	HP:0010442	Polydactyly
OMIM:615983	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615983	CEP290	80184	HP:0000135	Hypogonadism
OMIM:615983	CEP290	80184	HP:0001513	Obesity
OMIM:615983	CEP290	80184	HP:0003241	External genital hypoplasia
OMIM:615983	LZTFL1	54585	HP:0001159	Syndactyly
OMIM:615983	LZTFL1	54585	HP:0100543	Cognitive impairment
OMIM:615983	LZTFL1	54585	HP:0001156	Brachydactyly syndrome
OMIM:615983	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:615983	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615983	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:615983	LZTFL1	54585	HP:0001513	Obesity
OMIM:615983	LZTFL1	54585	HP:0003241	External genital hypoplasia
OMIM:615983	BBS10	79738	HP:0001159	Syndactyly
OMIM:615983	BBS10	79738	HP:0100543	Cognitive impairment
OMIM:615983	BBS10	79738	HP:0001156	Brachydactyly syndrome
OMIM:615983	BBS10	79738	HP:0010442	Polydactyly
OMIM:615983	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615983	BBS10	79738	HP:0000135	Hypogonadism
OMIM:615983	BBS10	79738	HP:0001513	Obesity
OMIM:615983	BBS10	79738	HP:0003241	External genital hypoplasia
OMIM:300848	ZNF711	7552	HP:0000750	Delayed speech and language development
OMIM:300848	ZNF711	7552	HP:0001263	Global developmental delay
OMIM:300848	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300848	ZNF711	7552	HP:0001423	X-linked dominant inheritance
OMIM:300848	ZNF711	7552	HP:0002123	Generalized myoclonic seizures
OMIM:300848	IL1RAPL1	11141	HP:0000750	Delayed speech and language development
OMIM:300848	IL1RAPL1	11141	HP:0001263	Global developmental delay
OMIM:300848	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300848	IL1RAPL1	11141	HP:0001423	X-linked dominant inheritance
OMIM:300848	IL1RAPL1	11141	HP:0002123	Generalized myoclonic seizures
OMIM:300848	ACSL4	2182	HP:0000750	Delayed speech and language development
OMIM:300848	ACSL4	2182	HP:0001263	Global developmental delay
OMIM:300848	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300848	ACSL4	2182	HP:0001423	X-linked dominant inheritance
OMIM:300848	ACSL4	2182	HP:0002123	Generalized myoclonic seizures
OMIM:300848	PAK3	5063	HP:0000750	Delayed speech and language development
OMIM:300848	PAK3	5063	HP:0001263	Global developmental delay
OMIM:300848	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300848	PAK3	5063	HP:0001423	X-linked dominant inheritance
OMIM:300848	PAK3	5063	HP:0002123	Generalized myoclonic seizures
OMIM:300848	SYP	6855	HP:0000750	Delayed speech and language development
OMIM:300848	SYP	6855	HP:0001263	Global developmental delay
OMIM:300848	SYP	6855	HP:0001249	Intellectual disability
OMIM:300848	SYP	6855	HP:0001423	X-linked dominant inheritance
OMIM:300848	SYP	6855	HP:0002123	Generalized myoclonic seizures
OMIM:300848	FTSJ1	24140	HP:0000750	Delayed speech and language development
OMIM:300848	FTSJ1	24140	HP:0001263	Global developmental delay
OMIM:300848	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300848	FTSJ1	24140	HP:0001423	X-linked dominant inheritance
OMIM:300848	FTSJ1	24140	HP:0002123	Generalized myoclonic seizures
OMIM:300848	DLG3	1741	HP:0000750	Delayed speech and language development
OMIM:300848	DLG3	1741	HP:0001263	Global developmental delay
OMIM:300848	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300848	DLG3	1741	HP:0001423	X-linked dominant inheritance
OMIM:300848	DLG3	1741	HP:0002123	Generalized myoclonic seizures
OMIM:300848	PTCHD1	139411	HP:0000750	Delayed speech and language development
OMIM:300848	PTCHD1	139411	HP:0001263	Global developmental delay
OMIM:300848	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300848	PTCHD1	139411	HP:0001423	X-linked dominant inheritance
OMIM:300848	PTCHD1	139411	HP:0002123	Generalized myoclonic seizures
OMIM:300848	UPF3B	65109	HP:0000750	Delayed speech and language development
OMIM:300848	UPF3B	65109	HP:0001263	Global developmental delay
OMIM:300848	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300848	UPF3B	65109	HP:0001423	X-linked dominant inheritance
OMIM:300848	UPF3B	65109	HP:0002123	Generalized myoclonic seizures
OMIM:300848	ZNF81	347344	HP:0000750	Delayed speech and language development
OMIM:300848	ZNF81	347344	HP:0001263	Global developmental delay
OMIM:300848	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300848	ZNF81	347344	HP:0001423	X-linked dominant inheritance
OMIM:300848	ZNF81	347344	HP:0002123	Generalized myoclonic seizures
OMIM:300848	RAB39B	116442	HP:0000750	Delayed speech and language development
OMIM:300848	RAB39B	116442	HP:0001263	Global developmental delay
OMIM:300848	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300848	RAB39B	116442	HP:0001423	X-linked dominant inheritance
OMIM:300848	RAB39B	116442	HP:0002123	Generalized myoclonic seizures
OMIM:300848	DMD	1756	HP:0000750	Delayed speech and language development
OMIM:300848	DMD	1756	HP:0001263	Global developmental delay
OMIM:300848	DMD	1756	HP:0001249	Intellectual disability
OMIM:300848	DMD	1756	HP:0001423	X-linked dominant inheritance
OMIM:300848	DMD	1756	HP:0002123	Generalized myoclonic seizures
OMIM:300848	MAGT1	84061	HP:0000750	Delayed speech and language development
OMIM:300848	MAGT1	84061	HP:0001263	Global developmental delay
OMIM:300848	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300848	MAGT1	84061	HP:0001423	X-linked dominant inheritance
OMIM:300848	MAGT1	84061	HP:0002123	Generalized myoclonic seizures
OMIM:300848	MID2	11043	HP:0000750	Delayed speech and language development
OMIM:300848	MID2	11043	HP:0001263	Global developmental delay
OMIM:300848	MID2	11043	HP:0001249	Intellectual disability
OMIM:300848	MID2	11043	HP:0001423	X-linked dominant inheritance
OMIM:300848	MID2	11043	HP:0002123	Generalized myoclonic seizures
OMIM:300848	GDI1	2664	HP:0000750	Delayed speech and language development
OMIM:300848	GDI1	2664	HP:0001263	Global developmental delay
OMIM:300848	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300848	GDI1	2664	HP:0001423	X-linked dominant inheritance
OMIM:300848	GDI1	2664	HP:0002123	Generalized myoclonic seizures
OMIM:300848	ZNF41	7592	HP:0000750	Delayed speech and language development
OMIM:300848	ZNF41	7592	HP:0001263	Global developmental delay
OMIM:300848	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300848	ZNF41	7592	HP:0001423	X-linked dominant inheritance
OMIM:300848	ZNF41	7592	HP:0002123	Generalized myoclonic seizures
OMIM:300848	MECP2	4204	HP:0000750	Delayed speech and language development
OMIM:300848	MECP2	4204	HP:0001263	Global developmental delay
OMIM:300848	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300848	MECP2	4204	HP:0001423	X-linked dominant inheritance
OMIM:300848	MECP2	4204	HP:0002123	Generalized myoclonic seizures
OMIM:300848	HCFC1	3054	HP:0000750	Delayed speech and language development
OMIM:300848	HCFC1	3054	HP:0001263	Global developmental delay
OMIM:300848	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300848	HCFC1	3054	HP:0001423	X-linked dominant inheritance
OMIM:300848	HCFC1	3054	HP:0002123	Generalized myoclonic seizures
OMIM:300848	USP9X	8239	HP:0000750	Delayed speech and language development
OMIM:300848	USP9X	8239	HP:0001263	Global developmental delay
OMIM:300848	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300848	USP9X	8239	HP:0001423	X-linked dominant inheritance
OMIM:300848	USP9X	8239	HP:0002123	Generalized myoclonic seizures
OMIM:300848	MED12	9968	HP:0000750	Delayed speech and language development
OMIM:300848	MED12	9968	HP:0001263	Global developmental delay
OMIM:300848	MED12	9968	HP:0001249	Intellectual disability
OMIM:300848	MED12	9968	HP:0001423	X-linked dominant inheritance
OMIM:300848	MED12	9968	HP:0002123	Generalized myoclonic seizures
OMIM:300848	ZNF674	641339	HP:0000750	Delayed speech and language development
OMIM:300848	ZNF674	641339	HP:0001263	Global developmental delay
OMIM:300848	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300848	ZNF674	641339	HP:0001423	X-linked dominant inheritance
OMIM:300848	ZNF674	641339	HP:0002123	Generalized myoclonic seizures
OMIM:300848	ARHGEF6	9459	HP:0000750	Delayed speech and language development
OMIM:300848	ARHGEF6	9459	HP:0001263	Global developmental delay
OMIM:300848	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300848	ARHGEF6	9459	HP:0001423	X-linked dominant inheritance
OMIM:300848	ARHGEF6	9459	HP:0002123	Generalized myoclonic seizures
OMIM:300848	RPS6KA3	6197	HP:0000750	Delayed speech and language development
OMIM:300848	RPS6KA3	6197	HP:0001263	Global developmental delay
OMIM:300848	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300848	RPS6KA3	6197	HP:0001423	X-linked dominant inheritance
OMIM:300848	RPS6KA3	6197	HP:0002123	Generalized myoclonic seizures
OMIM:300848	IQSEC2	23096	HP:0000750	Delayed speech and language development
OMIM:300848	IQSEC2	23096	HP:0001263	Global developmental delay
OMIM:300848	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300848	IQSEC2	23096	HP:0001423	X-linked dominant inheritance
OMIM:300848	IQSEC2	23096	HP:0002123	Generalized myoclonic seizures
OMIM:300848	AGTR2	186	HP:0000750	Delayed speech and language development
OMIM:300848	AGTR2	186	HP:0001263	Global developmental delay
OMIM:300848	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300848	AGTR2	186	HP:0001423	X-linked dominant inheritance
OMIM:300848	AGTR2	186	HP:0002123	Generalized myoclonic seizures
OMIM:300848	ARX	170302	HP:0000750	Delayed speech and language development
OMIM:300848	ARX	170302	HP:0001263	Global developmental delay
OMIM:300848	ARX	170302	HP:0001249	Intellectual disability
OMIM:300848	ARX	170302	HP:0001423	X-linked dominant inheritance
OMIM:300848	ARX	170302	HP:0002123	Generalized myoclonic seizures
OMIM:300848	ALG13	79868	HP:0000750	Delayed speech and language development
OMIM:300848	ALG13	79868	HP:0001263	Global developmental delay
OMIM:300848	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300848	ALG13	79868	HP:0001423	X-linked dominant inheritance
OMIM:300848	ALG13	79868	HP:0002123	Generalized myoclonic seizures
OMIM:300848	TSPAN7	7102	HP:0000750	Delayed speech and language development
OMIM:300848	TSPAN7	7102	HP:0001263	Global developmental delay
OMIM:300848	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300848	TSPAN7	7102	HP:0001423	X-linked dominant inheritance
OMIM:300848	TSPAN7	7102	HP:0002123	Generalized myoclonic seizures
OMIM:614209	B9D1	27077	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	B9D1	27077	HP:0009826	Limb undergrowth
OMIM:614209	B9D1	27077	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	B9D1	27077	HP:0002085	Occipital encephalocele
OMIM:614209	B9D1	27077	HP:0000062	Ambiguous genitalia
OMIM:614209	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:614209	B9D1	27077	HP:0001762	Talipes equinovarus
OMIM:614209	RPGRIP1	57096	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	RPGRIP1	57096	HP:0009826	Limb undergrowth
OMIM:614209	RPGRIP1	57096	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	RPGRIP1	57096	HP:0002085	Occipital encephalocele
OMIM:614209	RPGRIP1	57096	HP:0000062	Ambiguous genitalia
OMIM:614209	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:614209	RPGRIP1	57096	HP:0001762	Talipes equinovarus
OMIM:614209	CC2D2A	57545	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	CC2D2A	57545	HP:0009826	Limb undergrowth
OMIM:614209	CC2D2A	57545	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	CC2D2A	57545	HP:0002085	Occipital encephalocele
OMIM:614209	CC2D2A	57545	HP:0000062	Ambiguous genitalia
OMIM:614209	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:614209	CC2D2A	57545	HP:0001762	Talipes equinovarus
OMIM:614209	B9D2	80776	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	B9D2	80776	HP:0009826	Limb undergrowth
OMIM:614209	B9D2	80776	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	B9D2	80776	HP:0002085	Occipital encephalocele
OMIM:614209	B9D2	80776	HP:0000062	Ambiguous genitalia
OMIM:614209	B9D2	80776	HP:0000007	Autosomal recessive inheritance
OMIM:614209	B9D2	80776	HP:0001762	Talipes equinovarus
OMIM:614209	CSPP1	79848	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	CSPP1	79848	HP:0009826	Limb undergrowth
OMIM:614209	CSPP1	79848	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	CSPP1	79848	HP:0002085	Occipital encephalocele
OMIM:614209	CSPP1	79848	HP:0000062	Ambiguous genitalia
OMIM:614209	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:614209	CSPP1	79848	HP:0001762	Talipes equinovarus
OMIM:614209	TMEM67	91147	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	TMEM67	91147	HP:0009826	Limb undergrowth
OMIM:614209	TMEM67	91147	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	TMEM67	91147	HP:0002085	Occipital encephalocele
OMIM:614209	TMEM67	91147	HP:0000062	Ambiguous genitalia
OMIM:614209	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:614209	TMEM67	91147	HP:0001762	Talipes equinovarus
OMIM:614209	WDPCP	51057	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	WDPCP	51057	HP:0009826	Limb undergrowth
OMIM:614209	WDPCP	51057	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	WDPCP	51057	HP:0002085	Occipital encephalocele
OMIM:614209	WDPCP	51057	HP:0000062	Ambiguous genitalia
OMIM:614209	WDPCP	51057	HP:0000007	Autosomal recessive inheritance
OMIM:614209	WDPCP	51057	HP:0001762	Talipes equinovarus
OMIM:614209	MKS1	54903	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	MKS1	54903	HP:0009826	Limb undergrowth
OMIM:614209	MKS1	54903	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	MKS1	54903	HP:0002085	Occipital encephalocele
OMIM:614209	MKS1	54903	HP:0000062	Ambiguous genitalia
OMIM:614209	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:614209	MKS1	54903	HP:0001762	Talipes equinovarus
OMIM:614209	CEP290	80184	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	CEP290	80184	HP:0009826	Limb undergrowth
OMIM:614209	CEP290	80184	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	CEP290	80184	HP:0002085	Occipital encephalocele
OMIM:614209	CEP290	80184	HP:0000062	Ambiguous genitalia
OMIM:614209	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:614209	CEP290	80184	HP:0001762	Talipes equinovarus
OMIM:614209	RPGRIP1L	23322	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	RPGRIP1L	23322	HP:0009826	Limb undergrowth
OMIM:614209	RPGRIP1L	23322	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	RPGRIP1L	23322	HP:0002085	Occipital encephalocele
OMIM:614209	RPGRIP1L	23322	HP:0000062	Ambiguous genitalia
OMIM:614209	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:614209	RPGRIP1L	23322	HP:0001762	Talipes equinovarus
OMIM:614209	TCTN2	79867	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	TCTN2	79867	HP:0009826	Limb undergrowth
OMIM:614209	TCTN2	79867	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	TCTN2	79867	HP:0002085	Occipital encephalocele
OMIM:614209	TCTN2	79867	HP:0000062	Ambiguous genitalia
OMIM:614209	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:614209	TCTN2	79867	HP:0001762	Talipes equinovarus
OMIM:614209	TMEM216	51259	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	TMEM216	51259	HP:0009826	Limb undergrowth
OMIM:614209	TMEM216	51259	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	TMEM216	51259	HP:0002085	Occipital encephalocele
OMIM:614209	TMEM216	51259	HP:0000062	Ambiguous genitalia
OMIM:614209	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:614209	TMEM216	51259	HP:0001762	Talipes equinovarus
OMIM:614209	TMEM231	79583	HP:0000003	Multicystic kidney dysplasia
OMIM:614209	TMEM231	79583	HP:0009826	Limb undergrowth
OMIM:614209	TMEM231	79583	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:614209	TMEM231	79583	HP:0002085	Occipital encephalocele
OMIM:614209	TMEM231	79583	HP:0000062	Ambiguous genitalia
OMIM:614209	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:614209	TMEM231	79583	HP:0001762	Talipes equinovarus
OMIM:615709	T	6862	HP:0000007	Autosomal recessive inheritance
OMIM:615709	T	6862	HP:0003577	Congenital onset
OMIM:615709	T	6862	HP:0003468	Abnormality of the vertebrae
OMIM:258501	OPA3	80207	HP:0000648	Optic atrophy
OMIM:258501	OPA3	80207	HP:0003487	Babinski sign
OMIM:258501	OPA3	80207	HP:0001257	Spasticity
OMIM:258501	OPA3	80207	HP:0004374	Hemiplegia/hemiparesis
OMIM:258501	OPA3	80207	HP:0001347	Hyperreflexia
OMIM:258501	OPA3	80207	HP:0007663	Reduced visual acuity
OMIM:258501	OPA3	80207	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:258501	OPA3	80207	HP:0001260	Dysarthria
OMIM:258501	OPA3	80207	HP:0000505	Visual impairment
OMIM:258501	OPA3	80207	HP:0100543	Cognitive impairment
OMIM:258501	OPA3	80207	HP:0002167	Neurological speech impairment
OMIM:258501	OPA3	80207	HP:0001251	Ataxia
OMIM:258501	OPA3	80207	HP:0001288	Gait disturbance
OMIM:258501	OPA3	80207	HP:0000639	Nystagmus
OMIM:258501	OPA3	80207	HP:0002311	Incoordination
OMIM:258501	OPA3	80207	HP:0002072	Chorea
OMIM:258501	OPA3	80207	HP:0000007	Autosomal recessive inheritance
OMIM:614615	CEP41	95681	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	CEP41	95681	HP:0001251	Ataxia
OMIM:614615	CEP41	95681	HP:0000007	Autosomal recessive inheritance
OMIM:614615	CEP41	95681	HP:0001159	Syndactyly
OMIM:614615	CEP41	95681	HP:0002883	Hyperventilation
OMIM:614615	CEP41	95681	HP:0000657	Oculomotor apraxia
OMIM:614615	CEP41	95681	HP:0001263	Global developmental delay
OMIM:614615	CEP41	95681	HP:0010442	Polydactyly
OMIM:614615	C5ORF42	65250	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	C5ORF42	65250	HP:0001251	Ataxia
OMIM:614615	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:614615	C5ORF42	65250	HP:0001159	Syndactyly
OMIM:614615	C5ORF42	65250	HP:0002883	Hyperventilation
OMIM:614615	C5ORF42	65250	HP:0000657	Oculomotor apraxia
OMIM:614615	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:614615	C5ORF42	65250	HP:0010442	Polydactyly
OMIM:614615	B9D1	27077	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	B9D1	27077	HP:0001251	Ataxia
OMIM:614615	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:614615	B9D1	27077	HP:0001159	Syndactyly
OMIM:614615	B9D1	27077	HP:0002883	Hyperventilation
OMIM:614615	B9D1	27077	HP:0000657	Oculomotor apraxia
OMIM:614615	B9D1	27077	HP:0001263	Global developmental delay
OMIM:614615	B9D1	27077	HP:0010442	Polydactyly
OMIM:614615	TMEM237	65062	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	TMEM237	65062	HP:0001251	Ataxia
OMIM:614615	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:614615	TMEM237	65062	HP:0001159	Syndactyly
OMIM:614615	TMEM237	65062	HP:0002883	Hyperventilation
OMIM:614615	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:614615	TMEM237	65062	HP:0001263	Global developmental delay
OMIM:614615	TMEM237	65062	HP:0010442	Polydactyly
OMIM:614615	CSPP1	79848	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	CSPP1	79848	HP:0001251	Ataxia
OMIM:614615	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:614615	CSPP1	79848	HP:0001159	Syndactyly
OMIM:614615	CSPP1	79848	HP:0002883	Hyperventilation
OMIM:614615	CSPP1	79848	HP:0000657	Oculomotor apraxia
OMIM:614615	CSPP1	79848	HP:0001263	Global developmental delay
OMIM:614615	CSPP1	79848	HP:0010442	Polydactyly
OMIM:614615	TMEM67	91147	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	TMEM67	91147	HP:0001251	Ataxia
OMIM:614615	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:614615	TMEM67	91147	HP:0001159	Syndactyly
OMIM:614615	TMEM67	91147	HP:0002883	Hyperventilation
OMIM:614615	TMEM67	91147	HP:0000657	Oculomotor apraxia
OMIM:614615	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:614615	TMEM67	91147	HP:0010442	Polydactyly
OMIM:614615	INPP5E	56623	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	INPP5E	56623	HP:0001251	Ataxia
OMIM:614615	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:614615	INPP5E	56623	HP:0001159	Syndactyly
OMIM:614615	INPP5E	56623	HP:0002883	Hyperventilation
OMIM:614615	INPP5E	56623	HP:0000657	Oculomotor apraxia
OMIM:614615	INPP5E	56623	HP:0001263	Global developmental delay
OMIM:614615	INPP5E	56623	HP:0010442	Polydactyly
OMIM:614615	TCTN1	79600	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	TCTN1	79600	HP:0001251	Ataxia
OMIM:614615	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:614615	TCTN1	79600	HP:0001159	Syndactyly
OMIM:614615	TCTN1	79600	HP:0002883	Hyperventilation
OMIM:614615	TCTN1	79600	HP:0000657	Oculomotor apraxia
OMIM:614615	TCTN1	79600	HP:0001263	Global developmental delay
OMIM:614615	TCTN1	79600	HP:0010442	Polydactyly
OMIM:614615	AHI1	54806	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	AHI1	54806	HP:0001251	Ataxia
OMIM:614615	AHI1	54806	HP:0000007	Autosomal recessive inheritance
OMIM:614615	AHI1	54806	HP:0001159	Syndactyly
OMIM:614615	AHI1	54806	HP:0002883	Hyperventilation
OMIM:614615	AHI1	54806	HP:0000657	Oculomotor apraxia
OMIM:614615	AHI1	54806	HP:0001263	Global developmental delay
OMIM:614615	AHI1	54806	HP:0010442	Polydactyly
OMIM:614615	MKS1	54903	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	MKS1	54903	HP:0001251	Ataxia
OMIM:614615	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:614615	MKS1	54903	HP:0001159	Syndactyly
OMIM:614615	MKS1	54903	HP:0002883	Hyperventilation
OMIM:614615	MKS1	54903	HP:0000657	Oculomotor apraxia
OMIM:614615	MKS1	54903	HP:0001263	Global developmental delay
OMIM:614615	MKS1	54903	HP:0010442	Polydactyly
OMIM:614615	TCTN2	79867	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	TCTN2	79867	HP:0001251	Ataxia
OMIM:614615	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:614615	TCTN2	79867	HP:0001159	Syndactyly
OMIM:614615	TCTN2	79867	HP:0002883	Hyperventilation
OMIM:614615	TCTN2	79867	HP:0000657	Oculomotor apraxia
OMIM:614615	TCTN2	79867	HP:0001263	Global developmental delay
OMIM:614615	TCTN2	79867	HP:0010442	Polydactyly
OMIM:614615	KIAA0586	9786	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	KIAA0586	9786	HP:0001251	Ataxia
OMIM:614615	KIAA0586	9786	HP:0000007	Autosomal recessive inheritance
OMIM:614615	KIAA0586	9786	HP:0001159	Syndactyly
OMIM:614615	KIAA0586	9786	HP:0002883	Hyperventilation
OMIM:614615	KIAA0586	9786	HP:0000657	Oculomotor apraxia
OMIM:614615	KIAA0586	9786	HP:0001263	Global developmental delay
OMIM:614615	KIAA0586	9786	HP:0010442	Polydactyly
OMIM:614615	ARL13B	200894	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614615	ARL13B	200894	HP:0001251	Ataxia
OMIM:614615	ARL13B	200894	HP:0000007	Autosomal recessive inheritance
OMIM:614615	ARL13B	200894	HP:0001159	Syndactyly
OMIM:614615	ARL13B	200894	HP:0002883	Hyperventilation
OMIM:614615	ARL13B	200894	HP:0000657	Oculomotor apraxia
OMIM:614615	ARL13B	200894	HP:0001263	Global developmental delay
OMIM:614615	ARL13B	200894	HP:0010442	Polydactyly
OMIM:615577	CD19	930	HP:0000006	Autosomal dominant inheritance
OMIM:615577	CD19	930	HP:0008404	Nail dystrophy
OMIM:615577	CD19	930	HP:0001263	Global developmental delay
OMIM:615577	CD19	930	HP:0001596	Alopecia
OMIM:615577	CD19	930	HP:0002099	Asthma
OMIM:615577	CD19	930	HP:0000824	Growth hormone deficiency
OMIM:615577	CD19	930	HP:0002205	Recurrent respiratory infections
OMIM:615577	CD19	930	HP:0002721	Immunodeficiency
OMIM:615577	CD19	930	HP:0004313	Decreased antibody level in blood
OMIM:615577	TNFRSF13C	115650	HP:0000006	Autosomal dominant inheritance
OMIM:615577	TNFRSF13C	115650	HP:0008404	Nail dystrophy
OMIM:615577	TNFRSF13C	115650	HP:0001263	Global developmental delay
OMIM:615577	TNFRSF13C	115650	HP:0001596	Alopecia
OMIM:615577	TNFRSF13C	115650	HP:0002099	Asthma
OMIM:615577	TNFRSF13C	115650	HP:0000824	Growth hormone deficiency
OMIM:615577	TNFRSF13C	115650	HP:0002205	Recurrent respiratory infections
OMIM:615577	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:615577	TNFRSF13C	115650	HP:0004313	Decreased antibody level in blood
OMIM:615577	MS4A1	931	HP:0000006	Autosomal dominant inheritance
OMIM:615577	MS4A1	931	HP:0008404	Nail dystrophy
OMIM:615577	MS4A1	931	HP:0001263	Global developmental delay
OMIM:615577	MS4A1	931	HP:0001596	Alopecia
OMIM:615577	MS4A1	931	HP:0002099	Asthma
OMIM:615577	MS4A1	931	HP:0000824	Growth hormone deficiency
OMIM:615577	MS4A1	931	HP:0002205	Recurrent respiratory infections
OMIM:615577	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:615577	MS4A1	931	HP:0004313	Decreased antibody level in blood
OMIM:615577	CR2	1380	HP:0000006	Autosomal dominant inheritance
OMIM:615577	CR2	1380	HP:0008404	Nail dystrophy
OMIM:615577	CR2	1380	HP:0001263	Global developmental delay
OMIM:615577	CR2	1380	HP:0001596	Alopecia
OMIM:615577	CR2	1380	HP:0002099	Asthma
OMIM:615577	CR2	1380	HP:0000824	Growth hormone deficiency
OMIM:615577	CR2	1380	HP:0002205	Recurrent respiratory infections
OMIM:615577	CR2	1380	HP:0002721	Immunodeficiency
OMIM:615577	CR2	1380	HP:0004313	Decreased antibody level in blood
OMIM:615577	TNFSF12	8742	HP:0000006	Autosomal dominant inheritance
OMIM:615577	TNFSF12	8742	HP:0008404	Nail dystrophy
OMIM:615577	TNFSF12	8742	HP:0001263	Global developmental delay
OMIM:615577	TNFSF12	8742	HP:0001596	Alopecia
OMIM:615577	TNFSF12	8742	HP:0002099	Asthma
OMIM:615577	TNFSF12	8742	HP:0000824	Growth hormone deficiency
OMIM:615577	TNFSF12	8742	HP:0002205	Recurrent respiratory infections
OMIM:615577	TNFSF12	8742	HP:0002721	Immunodeficiency
OMIM:615577	TNFSF12	8742	HP:0004313	Decreased antibody level in blood
OMIM:615577	NFKB1	4790	HP:0000006	Autosomal dominant inheritance
OMIM:615577	NFKB1	4790	HP:0008404	Nail dystrophy
OMIM:615577	NFKB1	4790	HP:0001263	Global developmental delay
OMIM:615577	NFKB1	4790	HP:0001596	Alopecia
OMIM:615577	NFKB1	4790	HP:0002099	Asthma
OMIM:615577	NFKB1	4790	HP:0000824	Growth hormone deficiency
OMIM:615577	NFKB1	4790	HP:0002205	Recurrent respiratory infections
OMIM:615577	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:615577	NFKB1	4790	HP:0004313	Decreased antibody level in blood
OMIM:615577	NFKB2	4791	HP:0000006	Autosomal dominant inheritance
OMIM:615577	NFKB2	4791	HP:0008404	Nail dystrophy
OMIM:615577	NFKB2	4791	HP:0001263	Global developmental delay
OMIM:615577	NFKB2	4791	HP:0001596	Alopecia
OMIM:615577	NFKB2	4791	HP:0002099	Asthma
OMIM:615577	NFKB2	4791	HP:0000824	Growth hormone deficiency
OMIM:615577	NFKB2	4791	HP:0002205	Recurrent respiratory infections
OMIM:615577	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:615577	NFKB2	4791	HP:0004313	Decreased antibody level in blood
OMIM:615577	TNFRSF13B	23495	HP:0000006	Autosomal dominant inheritance
OMIM:615577	TNFRSF13B	23495	HP:0008404	Nail dystrophy
OMIM:615577	TNFRSF13B	23495	HP:0001263	Global developmental delay
OMIM:615577	TNFRSF13B	23495	HP:0001596	Alopecia
OMIM:615577	TNFRSF13B	23495	HP:0002099	Asthma
OMIM:615577	TNFRSF13B	23495	HP:0000824	Growth hormone deficiency
OMIM:615577	TNFRSF13B	23495	HP:0002205	Recurrent respiratory infections
OMIM:615577	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:615577	TNFRSF13B	23495	HP:0004313	Decreased antibody level in blood
OMIM:615577	ICOS	29851	HP:0000006	Autosomal dominant inheritance
OMIM:615577	ICOS	29851	HP:0008404	Nail dystrophy
OMIM:615577	ICOS	29851	HP:0001263	Global developmental delay
OMIM:615577	ICOS	29851	HP:0001596	Alopecia
OMIM:615577	ICOS	29851	HP:0002099	Asthma
OMIM:615577	ICOS	29851	HP:0000824	Growth hormone deficiency
OMIM:615577	ICOS	29851	HP:0002205	Recurrent respiratory infections
OMIM:615577	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:615577	ICOS	29851	HP:0004313	Decreased antibody level in blood
OMIM:615577	LRBA	987	HP:0000006	Autosomal dominant inheritance
OMIM:615577	LRBA	987	HP:0008404	Nail dystrophy
OMIM:615577	LRBA	987	HP:0001263	Global developmental delay
OMIM:615577	LRBA	987	HP:0001596	Alopecia
OMIM:615577	LRBA	987	HP:0002099	Asthma
OMIM:615577	LRBA	987	HP:0000824	Growth hormone deficiency
OMIM:615577	LRBA	987	HP:0002205	Recurrent respiratory infections
OMIM:615577	LRBA	987	HP:0002721	Immunodeficiency
OMIM:615577	LRBA	987	HP:0004313	Decreased antibody level in blood
OMIM:615577	PRKCD	5580	HP:0000006	Autosomal dominant inheritance
OMIM:615577	PRKCD	5580	HP:0008404	Nail dystrophy
OMIM:615577	PRKCD	5580	HP:0001263	Global developmental delay
OMIM:615577	PRKCD	5580	HP:0001596	Alopecia
OMIM:615577	PRKCD	5580	HP:0002099	Asthma
OMIM:615577	PRKCD	5580	HP:0000824	Growth hormone deficiency
OMIM:615577	PRKCD	5580	HP:0002205	Recurrent respiratory infections
OMIM:615577	PRKCD	5580	HP:0002721	Immunodeficiency
OMIM:615577	PRKCD	5580	HP:0004313	Decreased antibody level in blood
OMIM:615577	CD81	975	HP:0000006	Autosomal dominant inheritance
OMIM:615577	CD81	975	HP:0008404	Nail dystrophy
OMIM:615577	CD81	975	HP:0001263	Global developmental delay
OMIM:615577	CD81	975	HP:0001596	Alopecia
OMIM:615577	CD81	975	HP:0002099	Asthma
OMIM:615577	CD81	975	HP:0000824	Growth hormone deficiency
OMIM:615577	CD81	975	HP:0002205	Recurrent respiratory infections
OMIM:615577	CD81	975	HP:0002721	Immunodeficiency
OMIM:615577	CD81	975	HP:0004313	Decreased antibody level in blood
OMIM:238970	SLC25A15	10166	HP:0002240	Hepatomegaly
OMIM:238970	SLC25A15	10166	HP:0001249	Intellectual disability
OMIM:238970	SLC25A15	10166	HP:0002169	Clonus
OMIM:238970	SLC25A15	10166	HP:0007256	Abnormal pyramidal signs
OMIM:238970	SLC25A15	10166	HP:0001254	Lethargy
OMIM:238970	SLC25A15	10166	HP:0002495	Impaired vibratory sensation
OMIM:238970	SLC25A15	10166	HP:0002038	Protein avoidance
OMIM:238970	SLC25A15	10166	HP:0002123	Generalized myoclonic seizures
OMIM:238970	SLC25A15	10166	HP:0001328	Specific learning disability
OMIM:238970	SLC25A15	10166	HP:0000762	Decreased nerve conduction velocity
OMIM:238970	SLC25A15	10166	HP:0002370	Poor coordination
OMIM:238970	SLC25A15	10166	HP:0007894	Hypopigmentation of the fundus
OMIM:238970	SLC25A15	10166	HP:0001508	Failure to thrive
OMIM:238970	SLC25A15	10166	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:238970	SLC25A15	10166	HP:0003812	Phenotypic variability
OMIM:238970	SLC25A15	10166	HP:0000533	Chorioretinal atrophy
OMIM:238970	SLC25A15	10166	HP:0002313	Spastic paraparesis
OMIM:238970	SLC25A15	10166	HP:0006846	Acute encephalopathy
OMIM:238970	SLC25A15	10166	HP:0002120	Cerebral cortical atrophy
OMIM:238970	SLC25A15	10166	HP:0000007	Autosomal recessive inheritance
OMIM:238970	SLC25A15	10166	HP:0001252	Muscular hypotonia
OMIM:238970	SLC25A15	10166	HP:0001987	Hyperammonemia
OMIM:238970	SLC25A15	10166	HP:0001259	Coma
OMIM:238970	SLC25A15	10166	HP:0001410	Decreased liver function
OMIM:238970	SLC25A15	10166	HP:0001263	Global developmental delay
ORPHANET:231242	HBB	3043	HP:0001744	Splenomegaly
OMIM:300004	ARX	170302	HP:0000664	Synophrys
OMIM:300004	ARX	170302	HP:0004322	Short stature
OMIM:300004	ARX	170302	HP:0001845	Overlapping toe
OMIM:300004	ARX	170302	HP:0002445	Tetraplegia
OMIM:300004	ARX	170302	HP:0000336	Prominent supraorbital ridges
OMIM:300004	ARX	170302	HP:0006887	Intellectual disability, progressive
OMIM:300004	ARX	170302	HP:0100627	Displacement of the external urethral meatus
OMIM:300004	ARX	170302	HP:0000998	Hypertrichosis
OMIM:300004	ARX	170302	HP:0000047	Hypospadias
OMIM:300004	ARX	170302	HP:0001274	Agenesis of corpus callosum
OMIM:300004	ARX	170302	HP:0001090	Large eyes
OMIM:300004	ARX	170302	HP:0003121	Limb joint contracture
OMIM:300004	ARX	170302	HP:0000411	Protruding ear
OMIM:300004	ARX	170302	HP:0004374	Hemiplegia/hemiparesis
OMIM:300004	ARX	170302	HP:0004299	Hernia of the abdominal wall
OMIM:300004	ARX	170302	HP:0001250	Seizures
OMIM:300004	ARX	170302	HP:0000486	Strabismus
OMIM:300004	ARX	170302	HP:0002650	Scoliosis
OMIM:300004	ARX	170302	HP:0002120	Cerebral cortical atrophy
OMIM:300004	ARX	170302	HP:0000028	Cryptorchidism
OMIM:300004	ARX	170302	HP:0001007	Hirsutism
OMIM:300004	ARX	170302	HP:0000377	Abnormality of the pinna
OMIM:300004	ARX	170302	HP:0000218	High palate
OMIM:300004	ARX	170302	HP:0000280	Coarse facial features
OMIM:300004	ARX	170302	HP:0100543	Cognitive impairment
OMIM:300004	ARX	170302	HP:0000252	Microcephaly
OMIM:300004	ARX	170302	HP:0001182	Tapered finger
OMIM:300004	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300004	ARX	170302	HP:0000639	Nystagmus
OMIM:300004	ARX	170302	HP:0001319	Neonatal hypotonia
OMIM:300004	ARX	170302	HP:0000294	Low anterior hairline
OMIM:300004	ARX	170302	HP:0000110	Renal dysplasia
OMIM:300004	ARX	170302	HP:0003272	Abnormality of the hip bone
OMIM:300004	ARX	170302	HP:0001263	Global developmental delay
OMIM:300004	ARX	170302	HP:0000505	Visual impairment
OMIM:300004	ARX	170302	HP:0002510	Spastic tetraplegia
OMIM:300004	ARX	170302	HP:0008678	Renal hypoplasia/aplasia
OMIM:300004	ARX	170302	HP:0000648	Optic atrophy
OMIM:300004	ARX	170302	HP:0010864	Intellectual disability, severe
OMIM:615860	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:615860	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:611095	METTL23	124512	HP:0001249	Intellectual disability
OMIM:611095	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:611095	CRADD	8738	HP:0001249	Intellectual disability
OMIM:611095	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:611095	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:611095	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:611095	FMN2	56776	HP:0001249	Intellectual disability
OMIM:611095	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:611095	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:611095	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:611095	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:611095	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:611095	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:611095	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:611095	LINS1	55180	HP:0001249	Intellectual disability
OMIM:611095	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:611095	NDST1	3340	HP:0001249	Intellectual disability
OMIM:611095	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:611095	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:611095	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:611095	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:611095	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:611095	CRBN	51185	HP:0001249	Intellectual disability
OMIM:611095	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:611095	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:611095	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:611095	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:611095	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:611095	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:611095	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:611095	TECR	9524	HP:0001249	Intellectual disability
OMIM:611095	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:611095	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:611095	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:611095	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:611095	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:611095	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:611095	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:611095	EDC3	80153	HP:0001249	Intellectual disability
OMIM:611095	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:611095	MED13L	23389	HP:0001249	Intellectual disability
OMIM:611095	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:611095	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:611095	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:611095	MED23	9439	HP:0001249	Intellectual disability
OMIM:611095	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:611364	CACNB4	785	HP:0002123	Generalized myoclonic seizures
OMIM:611364	CACNB4	785	HP:0002069	Generalized tonic-clonic seizures
OMIM:611364	CACNB4	785	HP:0000006	Autosomal dominant inheritance
OMIM:611364	GABRD	2563	HP:0002123	Generalized myoclonic seizures
OMIM:611364	GABRD	2563	HP:0002069	Generalized tonic-clonic seizures
OMIM:611364	GABRD	2563	HP:0000006	Autosomal dominant inheritance
OMIM:611364	JRK	8629	HP:0002123	Generalized myoclonic seizures
OMIM:611364	JRK	8629	HP:0002069	Generalized tonic-clonic seizures
OMIM:611364	JRK	8629	HP:0000006	Autosomal dominant inheritance
OMIM:611364	EFHC1	114327	HP:0002123	Generalized myoclonic seizures
OMIM:611364	EFHC1	114327	HP:0002069	Generalized tonic-clonic seizures
OMIM:611364	EFHC1	114327	HP:0000006	Autosomal dominant inheritance
OMIM:611364	GABRA1	2554	HP:0002123	Generalized myoclonic seizures
OMIM:611364	GABRA1	2554	HP:0002069	Generalized tonic-clonic seizures
OMIM:611364	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:611364	KCNQ3	3786	HP:0002123	Generalized myoclonic seizures
OMIM:611364	KCNQ3	3786	HP:0002069	Generalized tonic-clonic seizures
OMIM:611364	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:611364	CLCN2	1181	HP:0002123	Generalized myoclonic seizures
OMIM:611364	CLCN2	1181	HP:0002069	Generalized tonic-clonic seizures
OMIM:611364	CLCN2	1181	HP:0000006	Autosomal dominant inheritance
OMIM:230200	GALK1	2584	HP:0000007	Autosomal recessive inheritance
OMIM:230200	GALK1	2584	HP:0000518	Cataract
OMIM:230200	GALK1	2584	HP:0006579	Prolonged neonatal jaundice
OMIM:230200	GALK1	2584	HP:0012023	Galactosuria
OMIM:277950	MMP14	4323	HP:0045039	Osteolysis involving bones of the upper limbs
OMIM:277950	MMP14	4323	HP:0000212	Gingival overgrowth
OMIM:277950	MMP14	4323	HP:0009134	Osteolysis involving bones of the feet
OMIM:277950	MMP14	4323	HP:0007957	Corneal opacity
OMIM:277950	MMP14	4323	HP:0000280	Coarse facial features
OMIM:277950	MMP2	4313	HP:0045039	Osteolysis involving bones of the upper limbs
OMIM:277950	MMP2	4313	HP:0000212	Gingival overgrowth
OMIM:277950	MMP2	4313	HP:0009134	Osteolysis involving bones of the feet
OMIM:277950	MMP2	4313	HP:0007957	Corneal opacity
OMIM:277950	MMP2	4313	HP:0000280	Coarse facial features
ORPHANET:157794	BMPR1A	657	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:157794	BMPR1A	657	HP:0100273	Neoplasm of the colon
ORPHANET:157794	BMPR1A	657	HP:0200008	Intestinal polyposis
ORPHANET:157794	BMPR1A	657	HP:0100743	Neoplasm of the rectum
ORPHANET:157794	GREM1	26585	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:157794	GREM1	26585	HP:0100273	Neoplasm of the colon
ORPHANET:157794	GREM1	26585	HP:0200008	Intestinal polyposis
ORPHANET:157794	GREM1	26585	HP:0100743	Neoplasm of the rectum
OMIM:616479	RNASEH1	246243	HP:0003487	Babinski sign
OMIM:616479	RNASEH1	246243	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616479	RNASEH1	246243	HP:0003326	Myalgia
OMIM:616479	RNASEH1	246243	HP:0100543	Cognitive impairment
OMIM:616479	RNASEH1	246243	HP:0000508	Ptosis
OMIM:616479	RNASEH1	246243	HP:0001260	Dysarthria
OMIM:616479	RNASEH1	246243	HP:0002093	Respiratory insufficiency
OMIM:616479	RNASEH1	246243	HP:0000544	External ophthalmoplegia
OMIM:616479	RNASEH1	246243	HP:0011712	Right bundle branch block
OMIM:616479	RNASEH1	246243	HP:0002015	Dysphagia
OMIM:616479	RNASEH1	246243	HP:0001272	Cerebellar atrophy
OMIM:616479	RNASEH1	246243	HP:0002151	Increased serum lactate
OMIM:616479	RNASEH1	246243	HP:0002172	Postural instability
OMIM:616479	RNASEH1	246243	HP:0001347	Hyperreflexia
OMIM:616479	RNASEH1	246243	HP:0002317	Unsteady gait
OMIM:616479	RNASEH1	246243	HP:0003546	Exercise intolerance
OMIM:616479	RNASEH1	246243	HP:0003202	Skeletal muscle atrophy
OMIM:616479	RRM2B	50484	HP:0003487	Babinski sign
OMIM:616479	RRM2B	50484	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616479	RRM2B	50484	HP:0003326	Myalgia
OMIM:616479	RRM2B	50484	HP:0100543	Cognitive impairment
OMIM:616479	RRM2B	50484	HP:0000508	Ptosis
OMIM:616479	RRM2B	50484	HP:0001260	Dysarthria
OMIM:616479	RRM2B	50484	HP:0002093	Respiratory insufficiency
OMIM:616479	RRM2B	50484	HP:0000544	External ophthalmoplegia
OMIM:616479	RRM2B	50484	HP:0011712	Right bundle branch block
OMIM:616479	RRM2B	50484	HP:0002015	Dysphagia
OMIM:616479	RRM2B	50484	HP:0001272	Cerebellar atrophy
OMIM:616479	RRM2B	50484	HP:0002151	Increased serum lactate
OMIM:616479	RRM2B	50484	HP:0002172	Postural instability
OMIM:616479	RRM2B	50484	HP:0001347	Hyperreflexia
OMIM:616479	RRM2B	50484	HP:0002317	Unsteady gait
OMIM:616479	RRM2B	50484	HP:0003546	Exercise intolerance
OMIM:616479	RRM2B	50484	HP:0003202	Skeletal muscle atrophy
OMIM:610193	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:610193	DSG2	1829	HP:0006682	Ventricular extrasystoles
OMIM:610193	DSG2	1829	HP:0011663	Right ventricular cardiomyopathy
OMIM:610193	DSG2	1829	HP:0001962	Palpitations
OMIM:610193	DSG2	1829	HP:0001425	Heterogeneous
OMIM:610193	DSG2	1829	HP:0001645	Sudden cardiac death
OMIM:610193	DSG2	1829	HP:0004756	Ventricular tachycardia
OMIM:258900	UMPS	7372	HP:0000494	Downslanted palpebral fissures
OMIM:258900	UMPS	7372	HP:0100543	Cognitive impairment
OMIM:258900	UMPS	7372	HP:0001629	Ventricular septal defect
OMIM:258900	UMPS	7372	HP:0001744	Splenomegaly
OMIM:258900	UMPS	7372	HP:0003218	Oroticaciduria
OMIM:258900	UMPS	7372	HP:0000316	Hypertelorism
OMIM:258900	UMPS	7372	HP:0000007	Autosomal recessive inheritance
OMIM:258900	UMPS	7372	HP:0005435	Impaired T cell function
OMIM:258900	UMPS	7372	HP:0001263	Global developmental delay
OMIM:258900	UMPS	7372	HP:0003272	Abnormality of the hip bone
OMIM:258900	UMPS	7372	HP:0000790	Hematuria
OMIM:258900	UMPS	7372	HP:0001508	Failure to thrive
OMIM:258900	UMPS	7372	HP:0001631	Atria septal defect
OMIM:258900	UMPS	7372	HP:0001643	Patent ductus arteriosus
OMIM:258900	UMPS	7372	HP:0002205	Recurrent respiratory infections
OMIM:258900	UMPS	7372	HP:0003355	Aminoaciduria
OMIM:258900	UMPS	7372	HP:0000368	Low-set, posteriorly rotated ears
OMIM:258900	UMPS	7372	HP:0000431	Wide nasal bridge
OMIM:258900	UMPS	7372	HP:0010935	Abnormality of the upper urinary tract
OMIM:258900	UMPS	7372	HP:0008388	Abnormality of the toenails
OMIM:612020	PNPLA6	10908	HP:0001288	Gait disturbance
OMIM:612020	PNPLA6	10908	HP:0000007	Autosomal recessive inheritance
OMIM:612020	PNPLA6	10908	HP:0009053	Distal lower limb muscle weakness
OMIM:612020	PNPLA6	10908	HP:0003487	Babinski sign
OMIM:612020	PNPLA6	10908	HP:0001251	Ataxia
OMIM:612020	PNPLA6	10908	HP:0001272	Cerebellar atrophy
OMIM:612020	PNPLA6	10908	HP:0001347	Hyperreflexia
OMIM:612020	PNPLA6	10908	HP:0003693	Distal amyotrophy
OMIM:235000	H19	283120	HP:0000324	Facial asymmetry
OMIM:235000	H19	283120	HP:0002898	Embryonal neoplasm
OMIM:235000	H19	283120	HP:0001315	Reduced tendon reflexes
OMIM:235000	H19	283120	HP:0001555	Asymmetry of the thorax
OMIM:235000	H19	283120	HP:0000028	Cryptorchidism
OMIM:235000	H19	283120	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:235000	H19	283120	HP:0000006	Autosomal dominant inheritance
OMIM:235000	H19	283120	HP:0003829	Incomplete penetrance
OMIM:235000	H19	283120	HP:0003712	Skeletal muscle hypertrophy
OMIM:235000	H19	283120	HP:0001256	Intellectual disability, mild
OMIM:235000	H19	283120	HP:0007328	Impaired pain sensation
OMIM:235000	H19	283120	HP:0100555	Asymmetric growth
OMIM:235000	H19	283120	HP:0000164	Abnormality of the teeth
OMIM:235000	H19	283120	HP:0002650	Scoliosis
OMIM:235000	H19	283120	HP:0004299	Hernia of the abdominal wall
OMIM:235000	H19	283120	HP:0100543	Cognitive impairment
OMIM:235000	KCNQ1OT1	10984	HP:0000324	Facial asymmetry
OMIM:235000	KCNQ1OT1	10984	HP:0002898	Embryonal neoplasm
OMIM:235000	KCNQ1OT1	10984	HP:0001315	Reduced tendon reflexes
OMIM:235000	KCNQ1OT1	10984	HP:0001555	Asymmetry of the thorax
OMIM:235000	KCNQ1OT1	10984	HP:0000028	Cryptorchidism
OMIM:235000	KCNQ1OT1	10984	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:235000	KCNQ1OT1	10984	HP:0000006	Autosomal dominant inheritance
OMIM:235000	KCNQ1OT1	10984	HP:0003829	Incomplete penetrance
OMIM:235000	KCNQ1OT1	10984	HP:0003712	Skeletal muscle hypertrophy
OMIM:235000	KCNQ1OT1	10984	HP:0001256	Intellectual disability, mild
OMIM:235000	KCNQ1OT1	10984	HP:0007328	Impaired pain sensation
OMIM:235000	KCNQ1OT1	10984	HP:0100555	Asymmetric growth
OMIM:235000	KCNQ1OT1	10984	HP:0000164	Abnormality of the teeth
OMIM:235000	KCNQ1OT1	10984	HP:0002650	Scoliosis
OMIM:235000	KCNQ1OT1	10984	HP:0004299	Hernia of the abdominal wall
OMIM:235000	KCNQ1OT1	10984	HP:0100543	Cognitive impairment
OMIM:235000	IGF2	3481	HP:0000324	Facial asymmetry
OMIM:235000	IGF2	3481	HP:0002898	Embryonal neoplasm
OMIM:235000	IGF2	3481	HP:0001315	Reduced tendon reflexes
OMIM:235000	IGF2	3481	HP:0001555	Asymmetry of the thorax
OMIM:235000	IGF2	3481	HP:0000028	Cryptorchidism
OMIM:235000	IGF2	3481	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:235000	IGF2	3481	HP:0000006	Autosomal dominant inheritance
OMIM:235000	IGF2	3481	HP:0003829	Incomplete penetrance
OMIM:235000	IGF2	3481	HP:0003712	Skeletal muscle hypertrophy
OMIM:235000	IGF2	3481	HP:0001256	Intellectual disability, mild
OMIM:235000	IGF2	3481	HP:0007328	Impaired pain sensation
OMIM:235000	IGF2	3481	HP:0100555	Asymmetric growth
OMIM:235000	IGF2	3481	HP:0000164	Abnormality of the teeth
OMIM:235000	IGF2	3481	HP:0002650	Scoliosis
OMIM:235000	IGF2	3481	HP:0004299	Hernia of the abdominal wall
OMIM:235000	IGF2	3481	HP:0100543	Cognitive impairment
OMIM:607174	NF2	4771	HP:0002858	Meningioma
OMIM:607174	NF2	4771	HP:0003581	Adult onset
OMIM:607174	NF2	4771	HP:0003829	Incomplete penetrance
OMIM:607174	NF2	4771	HP:0000006	Autosomal dominant inheritance
OMIM:607174	PDGFB	5155	HP:0002858	Meningioma
OMIM:607174	PDGFB	5155	HP:0003581	Adult onset
OMIM:607174	PDGFB	5155	HP:0003829	Incomplete penetrance
OMIM:607174	PDGFB	5155	HP:0000006	Autosomal dominant inheritance
OMIM:607174	SUFU	51684	HP:0002858	Meningioma
OMIM:607174	SUFU	51684	HP:0003581	Adult onset
OMIM:607174	SUFU	51684	HP:0003829	Incomplete penetrance
OMIM:607174	SUFU	51684	HP:0000006	Autosomal dominant inheritance
OMIM:607174	SMARCB1	6598	HP:0002858	Meningioma
OMIM:607174	SMARCB1	6598	HP:0003581	Adult onset
OMIM:607174	SMARCB1	6598	HP:0003829	Incomplete penetrance
OMIM:607174	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
OMIM:607174	MN1	4330	HP:0002858	Meningioma
OMIM:607174	MN1	4330	HP:0003581	Adult onset
OMIM:607174	MN1	4330	HP:0003829	Incomplete penetrance
OMIM:607174	MN1	4330	HP:0000006	Autosomal dominant inheritance
OMIM:607174	SMARCE1	6605	HP:0002858	Meningioma
OMIM:607174	SMARCE1	6605	HP:0003581	Adult onset
OMIM:607174	SMARCE1	6605	HP:0003829	Incomplete penetrance
OMIM:607174	SMARCE1	6605	HP:0000006	Autosomal dominant inheritance
OMIM:183090	ATXN2	6311	HP:0000602	Ophthalmoplegia
OMIM:183090	ATXN2	6311	HP:0002070	Limb ataxia
OMIM:183090	ATXN2	6311	HP:0001265	Hyporeflexia
OMIM:183090	ATXN2	6311	HP:0001260	Dysarthria
OMIM:183090	ATXN2	6311	HP:0001252	Muscular hypotonia
OMIM:183090	ATXN2	6311	HP:0001336	Myoclonus
OMIM:183090	ATXN2	6311	HP:0001257	Spasticity
OMIM:183090	ATXN2	6311	HP:0001310	Dysmetria
OMIM:183090	ATXN2	6311	HP:0001151	Impaired horizontal smooth pursuit
OMIM:183090	ATXN2	6311	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:183090	ATXN2	6311	HP:0000510	Rod-cone dystrophy
OMIM:183090	ATXN2	6311	HP:0000726	Dementia
OMIM:183090	ATXN2	6311	HP:0002198	Dilated fourth ventricle
OMIM:183090	ATXN2	6311	HP:0003693	Distal amyotrophy
OMIM:183090	ATXN2	6311	HP:0000657	Oculomotor apraxia
OMIM:183090	ATXN2	6311	HP:0002495	Impaired vibratory sensation
OMIM:183090	ATXN2	6311	HP:0002172	Postural instability
OMIM:183090	ATXN2	6311	HP:0002380	Fasciculations
OMIM:183090	ATXN2	6311	HP:0000640	Gaze-evoked nystagmus
OMIM:183090	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:183090	ATXN2	6311	HP:0002075	Dysdiadochokinesis
OMIM:183090	ATXN2	6311	HP:0002067	Bradykinesia
OMIM:183090	ATXN2	6311	HP:0002015	Dysphagia
OMIM:183090	ATXN2	6311	HP:0002063	Rigidity
ORPHANET:314918	ASPA	443	HP:0100543	Cognitive impairment
ORPHANET:314918	ASPA	443	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:314918	ASPA	443	HP:0002167	Neurological speech impairment
ORPHANET:314918	ASPA	443	HP:0002360	Sleep disturbance
OMIM:613237	INF2	64423	HP:0000097	Focal segmental glomerulosclerosis
OMIM:613237	INF2	64423	HP:0000100	Nephrotic syndrome
OMIM:614091	WDR34	89891	HP:0000047	Hypospadias
OMIM:614091	WDR34	89891	HP:0001789	Hydrops fetalis
OMIM:614091	WDR34	89891	HP:0000113	Polycystic kidney dysplasia
OMIM:614091	WDR34	89891	HP:0000773	Short ribs
OMIM:614091	WDR34	89891	HP:0000882	Hypoplastic scapulae
OMIM:614091	WDR34	89891	HP:0100259	Postaxial polydactyly
OMIM:614091	WDR34	89891	HP:0010442	Polydactyly
OMIM:614091	WDR34	89891	HP:0000774	Narrow chest
OMIM:614091	WDR34	89891	HP:0000107	Renal cyst
OMIM:614091	WDR34	89891	HP:0003026	Short long bone
OMIM:614091	WDR34	89891	HP:0000476	Cystic hygroma
OMIM:614091	WDR34	89891	HP:0002089	Pulmonary hypoplasia
OMIM:614091	WDR34	89891	HP:0000007	Autosomal recessive inheritance
OMIM:614091	WDR34	89891	HP:0001159	Syndactyly
OMIM:614091	WDR34	89891	HP:0006487	Bowing of the long bones
OMIM:614091	WDR35	57539	HP:0000047	Hypospadias
OMIM:614091	WDR35	57539	HP:0001789	Hydrops fetalis
OMIM:614091	WDR35	57539	HP:0000113	Polycystic kidney dysplasia
OMIM:614091	WDR35	57539	HP:0000773	Short ribs
OMIM:614091	WDR35	57539	HP:0000882	Hypoplastic scapulae
OMIM:614091	WDR35	57539	HP:0100259	Postaxial polydactyly
OMIM:614091	WDR35	57539	HP:0010442	Polydactyly
OMIM:614091	WDR35	57539	HP:0000774	Narrow chest
OMIM:614091	WDR35	57539	HP:0000107	Renal cyst
OMIM:614091	WDR35	57539	HP:0003026	Short long bone
OMIM:614091	WDR35	57539	HP:0000476	Cystic hygroma
OMIM:614091	WDR35	57539	HP:0002089	Pulmonary hypoplasia
OMIM:614091	WDR35	57539	HP:0000007	Autosomal recessive inheritance
OMIM:614091	WDR35	57539	HP:0001159	Syndactyly
OMIM:614091	WDR35	57539	HP:0006487	Bowing of the long bones
OMIM:614091	IFT80	57560	HP:0000047	Hypospadias
OMIM:614091	IFT80	57560	HP:0001789	Hydrops fetalis
OMIM:614091	IFT80	57560	HP:0000113	Polycystic kidney dysplasia
OMIM:614091	IFT80	57560	HP:0000773	Short ribs
OMIM:614091	IFT80	57560	HP:0000882	Hypoplastic scapulae
OMIM:614091	IFT80	57560	HP:0100259	Postaxial polydactyly
OMIM:614091	IFT80	57560	HP:0010442	Polydactyly
OMIM:614091	IFT80	57560	HP:0000774	Narrow chest
OMIM:614091	IFT80	57560	HP:0000107	Renal cyst
OMIM:614091	IFT80	57560	HP:0003026	Short long bone
OMIM:614091	IFT80	57560	HP:0000476	Cystic hygroma
OMIM:614091	IFT80	57560	HP:0002089	Pulmonary hypoplasia
OMIM:614091	IFT80	57560	HP:0000007	Autosomal recessive inheritance
OMIM:614091	IFT80	57560	HP:0001159	Syndactyly
OMIM:614091	IFT80	57560	HP:0006487	Bowing of the long bones
OMIM:614091	WDR60	55112	HP:0000047	Hypospadias
OMIM:614091	WDR60	55112	HP:0001789	Hydrops fetalis
OMIM:614091	WDR60	55112	HP:0000113	Polycystic kidney dysplasia
OMIM:614091	WDR60	55112	HP:0000773	Short ribs
OMIM:614091	WDR60	55112	HP:0000882	Hypoplastic scapulae
OMIM:614091	WDR60	55112	HP:0100259	Postaxial polydactyly
OMIM:614091	WDR60	55112	HP:0010442	Polydactyly
OMIM:614091	WDR60	55112	HP:0000774	Narrow chest
OMIM:614091	WDR60	55112	HP:0000107	Renal cyst
OMIM:614091	WDR60	55112	HP:0003026	Short long bone
OMIM:614091	WDR60	55112	HP:0000476	Cystic hygroma
OMIM:614091	WDR60	55112	HP:0002089	Pulmonary hypoplasia
OMIM:614091	WDR60	55112	HP:0000007	Autosomal recessive inheritance
OMIM:614091	WDR60	55112	HP:0001159	Syndactyly
OMIM:614091	WDR60	55112	HP:0006487	Bowing of the long bones
OMIM:614091	DYNC2H1	79659	HP:0000047	Hypospadias
OMIM:614091	DYNC2H1	79659	HP:0001789	Hydrops fetalis
OMIM:614091	DYNC2H1	79659	HP:0000113	Polycystic kidney dysplasia
OMIM:614091	DYNC2H1	79659	HP:0000773	Short ribs
OMIM:614091	DYNC2H1	79659	HP:0000882	Hypoplastic scapulae
OMIM:614091	DYNC2H1	79659	HP:0100259	Postaxial polydactyly
OMIM:614091	DYNC2H1	79659	HP:0010442	Polydactyly
OMIM:614091	DYNC2H1	79659	HP:0000774	Narrow chest
OMIM:614091	DYNC2H1	79659	HP:0000107	Renal cyst
OMIM:614091	DYNC2H1	79659	HP:0003026	Short long bone
OMIM:614091	DYNC2H1	79659	HP:0000476	Cystic hygroma
OMIM:614091	DYNC2H1	79659	HP:0002089	Pulmonary hypoplasia
OMIM:614091	DYNC2H1	79659	HP:0000007	Autosomal recessive inheritance
OMIM:614091	DYNC2H1	79659	HP:0001159	Syndactyly
OMIM:614091	DYNC2H1	79659	HP:0006487	Bowing of the long bones
OMIM:615723	STAG3	10734	HP:0000007	Autosomal recessive inheritance
OMIM:615723	STAG3	10734	HP:0000786	Primary amenorrhea
OMIM:209300	TF	7018	HP:0001369	Arthritis
OMIM:209300	TF	7018	HP:0010978	Abnormality of immune system physiology
OMIM:209300	TF	7018	HP:0000821	Hypothyroidism
OMIM:209300	TF	7018	HP:0001635	Congestive heart failure
OMIM:209300	TF	7018	HP:0001732	Abnormality of the pancreas
OMIM:209300	TF	7018	HP:0001931	Hypochromic anemia
OMIM:209300	TF	7018	HP:0012239	Atransferrinemia
OMIM:209300	TF	7018	HP:0001392	Abnormality of the liver
OMIM:209300	TF	7018	HP:0000007	Autosomal recessive inheritance
OMIM:605479	ABCB11	8647	HP:0002908	Conjugated hyperbilirubinemia
OMIM:605479	ABCB11	8647	HP:0000007	Autosomal recessive inheritance
OMIM:605479	ABCB11	8647	HP:0000989	Pruritus
OMIM:605479	ABCB11	8647	HP:0000952	Jaundice
OMIM:605479	ABCB11	8647	HP:0001081	Cholelithiasis
OMIM:605479	ABCB11	8647	HP:0002240	Hepatomegaly
OMIM:605479	ABCB11	8647	HP:0001406	Intrahepatic cholestasis
OMIM:109730	NOTCH1	4851	HP:0001647	Bicuspid aortic valve
OMIM:109730	NOTCH1	4851	HP:0000006	Autosomal dominant inheritance
OMIM:109730	NOTCH1	4851	HP:0001650	Aortic valve stenosis
OMIM:109730	SMAD6	4091	HP:0001647	Bicuspid aortic valve
OMIM:109730	SMAD6	4091	HP:0000006	Autosomal dominant inheritance
OMIM:109730	SMAD6	4091	HP:0001650	Aortic valve stenosis
OMIM:141200	COL4A3	1285	HP:0000006	Autosomal dominant inheritance
OMIM:141200	COL4A3	1285	HP:0003680	Nonprogressive
OMIM:141200	COL4A3	1285	HP:0000790	Hematuria
OMIM:115800	CRYBA2	1412	HP:0000518	Cataract
OMIM:115800	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:115800	AGK	55750	HP:0000518	Cataract
OMIM:115800	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:115800	GCNT2	2651	HP:0000518	Cataract
OMIM:115800	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:115800	CRYGD	1421	HP:0000518	Cataract
OMIM:115800	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:608681	MESP2	145873	HP:0002205	Recurrent respiratory infections
OMIM:608681	MESP2	145873	HP:0000470	Short neck
OMIM:608681	MESP2	145873	HP:0003422	Vertebral segmentation defect
OMIM:608681	MESP2	145873	HP:0000007	Autosomal recessive inheritance
OMIM:608681	MESP2	145873	HP:0003521	Disproportionate short-trunk short stature
OMIM:608681	LFNG	3955	HP:0002205	Recurrent respiratory infections
OMIM:608681	LFNG	3955	HP:0000470	Short neck
OMIM:608681	LFNG	3955	HP:0003422	Vertebral segmentation defect
OMIM:608681	LFNG	3955	HP:0000007	Autosomal recessive inheritance
OMIM:608681	LFNG	3955	HP:0003521	Disproportionate short-trunk short stature
OMIM:608681	HES7	84667	HP:0002205	Recurrent respiratory infections
OMIM:608681	HES7	84667	HP:0000470	Short neck
OMIM:608681	HES7	84667	HP:0003422	Vertebral segmentation defect
OMIM:608681	HES7	84667	HP:0000007	Autosomal recessive inheritance
OMIM:608681	HES7	84667	HP:0003521	Disproportionate short-trunk short stature
OMIM:608681	DLL3	10683	HP:0002205	Recurrent respiratory infections
OMIM:608681	DLL3	10683	HP:0000470	Short neck
OMIM:608681	DLL3	10683	HP:0003422	Vertebral segmentation defect
OMIM:608681	DLL3	10683	HP:0000007	Autosomal recessive inheritance
OMIM:608681	DLL3	10683	HP:0003521	Disproportionate short-trunk short stature
OMIM:608681	RIPPLY2	134701	HP:0002205	Recurrent respiratory infections
OMIM:608681	RIPPLY2	134701	HP:0000470	Short neck
OMIM:608681	RIPPLY2	134701	HP:0003422	Vertebral segmentation defect
OMIM:608681	RIPPLY2	134701	HP:0000007	Autosomal recessive inheritance
OMIM:608681	RIPPLY2	134701	HP:0003521	Disproportionate short-trunk short stature
OMIM:241200	SLC12A1	6557	HP:0011220	Prominent forehead
OMIM:241200	SLC12A1	6557	HP:0002019	Constipation
OMIM:241200	SLC12A1	6557	HP:0001508	Failure to thrive
OMIM:241200	SLC12A1	6557	HP:0003324	Generalized muscle weakness
OMIM:241200	SLC12A1	6557	HP:0003540	Impaired platelet aggregation
OMIM:241200	SLC12A1	6557	HP:0000934	Chondrocalcinosis
OMIM:241200	SLC12A1	6557	HP:0002013	Vomiting
OMIM:241200	SLC12A1	6557	HP:0004322	Short stature
OMIM:241200	SLC12A1	6557	HP:0000007	Autosomal recessive inheritance
OMIM:241200	SLC12A1	6557	HP:0000938	Osteopenia
OMIM:241200	SLC12A1	6557	HP:0001944	Dehydration
OMIM:241200	SLC12A1	6557	HP:0003394	Muscle cramps
OMIM:241200	SLC12A1	6557	HP:0001263	Global developmental delay
OMIM:241200	SLC12A1	6557	HP:0002014	Diarrhea
OMIM:241200	SLC12A1	6557	HP:0000256	Macrocephaly
OMIM:241200	SLC12A1	6557	HP:0002150	Hypercalciuria
OMIM:241200	SLC12A1	6557	HP:0001090	Large eyes
OMIM:241200	SLC12A1	6557	HP:0001518	Small for gestational age
OMIM:241200	SLC12A1	6557	HP:0001249	Intellectual disability
OMIM:241200	SLC12A1	6557	HP:0003401	Paresthesia
OMIM:241200	SLC12A1	6557	HP:0001250	Seizures
OMIM:241200	SLC12A1	6557	HP:0001622	Premature birth
OMIM:241200	SLC12A1	6557	HP:0000400	Macrotia
OMIM:241200	SLC12A1	6557	HP:0001561	Polyhydramnios
OMIM:241200	SLC12A1	6557	HP:0002007	Frontal bossing
OMIM:241200	SLC12A1	6557	HP:0000121	Nephrocalcinosis
OMIM:241200	SLC12A1	6557	HP:0000325	Triangular face
OMIM:241200	SLC12A1	6557	HP:0001281	Tetany
OMIM:241200	SLC12A1	6557	HP:0001945	Fever
OMIM:241200	KCNJ1	3758	HP:0011220	Prominent forehead
OMIM:241200	KCNJ1	3758	HP:0002019	Constipation
OMIM:241200	KCNJ1	3758	HP:0001508	Failure to thrive
OMIM:241200	KCNJ1	3758	HP:0003324	Generalized muscle weakness
OMIM:241200	KCNJ1	3758	HP:0003540	Impaired platelet aggregation
OMIM:241200	KCNJ1	3758	HP:0000934	Chondrocalcinosis
OMIM:241200	KCNJ1	3758	HP:0002013	Vomiting
OMIM:241200	KCNJ1	3758	HP:0004322	Short stature
OMIM:241200	KCNJ1	3758	HP:0000007	Autosomal recessive inheritance
OMIM:241200	KCNJ1	3758	HP:0000938	Osteopenia
OMIM:241200	KCNJ1	3758	HP:0001944	Dehydration
OMIM:241200	KCNJ1	3758	HP:0003394	Muscle cramps
OMIM:241200	KCNJ1	3758	HP:0001263	Global developmental delay
OMIM:241200	KCNJ1	3758	HP:0002014	Diarrhea
OMIM:241200	KCNJ1	3758	HP:0000256	Macrocephaly
OMIM:241200	KCNJ1	3758	HP:0002150	Hypercalciuria
OMIM:241200	KCNJ1	3758	HP:0001090	Large eyes
OMIM:241200	KCNJ1	3758	HP:0001518	Small for gestational age
OMIM:241200	KCNJ1	3758	HP:0001249	Intellectual disability
OMIM:241200	KCNJ1	3758	HP:0003401	Paresthesia
OMIM:241200	KCNJ1	3758	HP:0001250	Seizures
OMIM:241200	KCNJ1	3758	HP:0001622	Premature birth
OMIM:241200	KCNJ1	3758	HP:0000400	Macrotia
OMIM:241200	KCNJ1	3758	HP:0001561	Polyhydramnios
OMIM:241200	KCNJ1	3758	HP:0002007	Frontal bossing
OMIM:241200	KCNJ1	3758	HP:0000121	Nephrocalcinosis
OMIM:241200	KCNJ1	3758	HP:0000325	Triangular face
OMIM:241200	KCNJ1	3758	HP:0001281	Tetany
OMIM:241200	KCNJ1	3758	HP:0001945	Fever
ORPHANET:2510	RAB3GAP1	22930	HP:0003196	Short nose
ORPHANET:2510	RAB3GAP1	22930	HP:0000252	Microcephaly
ORPHANET:2510	RAB3GAP1	22930	HP:0001276	Hypertonia
ORPHANET:2510	RAB3GAP1	22930	HP:0009830	Peripheral neuropathy
ORPHANET:2510	RAB3GAP1	22930	HP:0000347	Micrognathia
ORPHANET:2510	RAB3GAP1	22930	HP:0000505	Visual impairment
ORPHANET:2510	RAB3GAP1	22930	HP:0001252	Muscular hypotonia
ORPHANET:2510	RAB3GAP1	22930	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2510	RAB3GAP1	22930	HP:0000648	Optic atrophy
ORPHANET:2510	RAB3GAP1	22930	HP:0002808	Kyphosis
ORPHANET:2510	RAB3GAP1	22930	HP:0100542	Abnormal localization of kidney
ORPHANET:2510	RAB3GAP1	22930	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2510	RAB3GAP1	22930	HP:0002120	Cerebral cortical atrophy
ORPHANET:2510	RAB3GAP1	22930	HP:0000400	Macrotia
ORPHANET:2510	RAB3GAP1	22930	HP:0001511	Intrauterine growth retardation
ORPHANET:2510	RAB3GAP1	22930	HP:0002269	Abnormality of neuronal migration
ORPHANET:2510	RAB3GAP1	22930	HP:0004322	Short stature
ORPHANET:2510	RAB3GAP1	22930	HP:0002650	Scoliosis
ORPHANET:2510	RAB3GAP1	22930	HP:0000649	Abnormality of visual evoked potentials
ORPHANET:2510	RAB3GAP1	22930	HP:0000463	Anteverted nares
ORPHANET:2510	RAB3GAP1	22930	HP:0100543	Cognitive impairment
ORPHANET:2510	RAB3GAP1	22930	HP:0000518	Cataract
ORPHANET:2510	RAB3GAP1	22930	HP:0000055	Abnormality of female external genitalia
ORPHANET:2510	RAB3GAP1	22930	HP:0000998	Hypertrichosis
ORPHANET:2510	RAB3GAP1	22930	HP:0001250	Seizures
ORPHANET:2510	RAB3GAP1	22930	HP:0008736	Hypoplasia of penis
ORPHANET:2510	RAB3GAP1	22930	HP:0000567	Chorioretinal coloboma
ORPHANET:2510	RAB3GAP1	22930	HP:0000482	Microcornea
ORPHANET:2510	RAB3GAP1	22930	HP:0000028	Cryptorchidism
ORPHANET:2510	RAB3GAP1	22930	HP:0001376	Limitation of joint mobility
ORPHANET:2510	RAB3GAP1	22930	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2510	RAB3GAP1	22930	HP:0000322	Short philtrum
ORPHANET:2510	RAB3GAP1	22930	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:2510	RAB3GAP1	22930	HP:0000174	Abnormality of the palate
ORPHANET:2510	RAB3GAP1	22930	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2510	RAB3GAP1	22930	HP:0000431	Wide nasal bridge
ORPHANET:2510	RAB18	22931	HP:0003196	Short nose
ORPHANET:2510	RAB18	22931	HP:0000252	Microcephaly
ORPHANET:2510	RAB18	22931	HP:0001276	Hypertonia
ORPHANET:2510	RAB18	22931	HP:0009830	Peripheral neuropathy
ORPHANET:2510	RAB18	22931	HP:0000347	Micrognathia
ORPHANET:2510	RAB18	22931	HP:0000505	Visual impairment
ORPHANET:2510	RAB18	22931	HP:0001252	Muscular hypotonia
ORPHANET:2510	RAB18	22931	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2510	RAB18	22931	HP:0000648	Optic atrophy
ORPHANET:2510	RAB18	22931	HP:0002808	Kyphosis
ORPHANET:2510	RAB18	22931	HP:0100542	Abnormal localization of kidney
ORPHANET:2510	RAB18	22931	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2510	RAB18	22931	HP:0002120	Cerebral cortical atrophy
ORPHANET:2510	RAB18	22931	HP:0000400	Macrotia
ORPHANET:2510	RAB18	22931	HP:0001511	Intrauterine growth retardation
ORPHANET:2510	RAB18	22931	HP:0002269	Abnormality of neuronal migration
ORPHANET:2510	RAB18	22931	HP:0004322	Short stature
ORPHANET:2510	RAB18	22931	HP:0002650	Scoliosis
ORPHANET:2510	RAB18	22931	HP:0000649	Abnormality of visual evoked potentials
ORPHANET:2510	RAB18	22931	HP:0000463	Anteverted nares
ORPHANET:2510	RAB18	22931	HP:0100543	Cognitive impairment
ORPHANET:2510	RAB18	22931	HP:0000518	Cataract
ORPHANET:2510	RAB18	22931	HP:0000055	Abnormality of female external genitalia
ORPHANET:2510	RAB18	22931	HP:0000998	Hypertrichosis
ORPHANET:2510	RAB18	22931	HP:0001250	Seizures
ORPHANET:2510	RAB18	22931	HP:0008736	Hypoplasia of penis
ORPHANET:2510	RAB18	22931	HP:0000567	Chorioretinal coloboma
ORPHANET:2510	RAB18	22931	HP:0000482	Microcornea
ORPHANET:2510	RAB18	22931	HP:0000028	Cryptorchidism
ORPHANET:2510	RAB18	22931	HP:0001376	Limitation of joint mobility
ORPHANET:2510	RAB18	22931	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2510	RAB18	22931	HP:0000322	Short philtrum
ORPHANET:2510	RAB18	22931	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:2510	RAB18	22931	HP:0000174	Abnormality of the palate
ORPHANET:2510	RAB18	22931	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2510	RAB18	22931	HP:0000431	Wide nasal bridge
ORPHANET:2510	RAB3GAP2	25782	HP:0003196	Short nose
ORPHANET:2510	RAB3GAP2	25782	HP:0000252	Microcephaly
ORPHANET:2510	RAB3GAP2	25782	HP:0001276	Hypertonia
ORPHANET:2510	RAB3GAP2	25782	HP:0009830	Peripheral neuropathy
ORPHANET:2510	RAB3GAP2	25782	HP:0000347	Micrognathia
ORPHANET:2510	RAB3GAP2	25782	HP:0000505	Visual impairment
ORPHANET:2510	RAB3GAP2	25782	HP:0001252	Muscular hypotonia
ORPHANET:2510	RAB3GAP2	25782	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2510	RAB3GAP2	25782	HP:0000648	Optic atrophy
ORPHANET:2510	RAB3GAP2	25782	HP:0002808	Kyphosis
ORPHANET:2510	RAB3GAP2	25782	HP:0100542	Abnormal localization of kidney
ORPHANET:2510	RAB3GAP2	25782	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2510	RAB3GAP2	25782	HP:0002120	Cerebral cortical atrophy
ORPHANET:2510	RAB3GAP2	25782	HP:0000400	Macrotia
ORPHANET:2510	RAB3GAP2	25782	HP:0001511	Intrauterine growth retardation
ORPHANET:2510	RAB3GAP2	25782	HP:0002269	Abnormality of neuronal migration
ORPHANET:2510	RAB3GAP2	25782	HP:0004322	Short stature
ORPHANET:2510	RAB3GAP2	25782	HP:0002650	Scoliosis
ORPHANET:2510	RAB3GAP2	25782	HP:0000649	Abnormality of visual evoked potentials
ORPHANET:2510	RAB3GAP2	25782	HP:0000463	Anteverted nares
ORPHANET:2510	RAB3GAP2	25782	HP:0100543	Cognitive impairment
ORPHANET:2510	RAB3GAP2	25782	HP:0000518	Cataract
ORPHANET:2510	RAB3GAP2	25782	HP:0000055	Abnormality of female external genitalia
ORPHANET:2510	RAB3GAP2	25782	HP:0000998	Hypertrichosis
ORPHANET:2510	RAB3GAP2	25782	HP:0001250	Seizures
ORPHANET:2510	RAB3GAP2	25782	HP:0008736	Hypoplasia of penis
ORPHANET:2510	RAB3GAP2	25782	HP:0000567	Chorioretinal coloboma
ORPHANET:2510	RAB3GAP2	25782	HP:0000482	Microcornea
ORPHANET:2510	RAB3GAP2	25782	HP:0000028	Cryptorchidism
ORPHANET:2510	RAB3GAP2	25782	HP:0001376	Limitation of joint mobility
ORPHANET:2510	RAB3GAP2	25782	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2510	RAB3GAP2	25782	HP:0000322	Short philtrum
ORPHANET:2510	RAB3GAP2	25782	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:2510	RAB3GAP2	25782	HP:0000174	Abnormality of the palate
ORPHANET:2510	RAB3GAP2	25782	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2510	RAB3GAP2	25782	HP:0000431	Wide nasal bridge
ORPHANET:2510	TBC1D20	128637	HP:0003196	Short nose
ORPHANET:2510	TBC1D20	128637	HP:0000252	Microcephaly
ORPHANET:2510	TBC1D20	128637	HP:0001276	Hypertonia
ORPHANET:2510	TBC1D20	128637	HP:0009830	Peripheral neuropathy
ORPHANET:2510	TBC1D20	128637	HP:0000347	Micrognathia
ORPHANET:2510	TBC1D20	128637	HP:0000505	Visual impairment
ORPHANET:2510	TBC1D20	128637	HP:0001252	Muscular hypotonia
ORPHANET:2510	TBC1D20	128637	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2510	TBC1D20	128637	HP:0000648	Optic atrophy
ORPHANET:2510	TBC1D20	128637	HP:0002808	Kyphosis
ORPHANET:2510	TBC1D20	128637	HP:0100542	Abnormal localization of kidney
ORPHANET:2510	TBC1D20	128637	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2510	TBC1D20	128637	HP:0002120	Cerebral cortical atrophy
ORPHANET:2510	TBC1D20	128637	HP:0000400	Macrotia
ORPHANET:2510	TBC1D20	128637	HP:0001511	Intrauterine growth retardation
ORPHANET:2510	TBC1D20	128637	HP:0002269	Abnormality of neuronal migration
ORPHANET:2510	TBC1D20	128637	HP:0004322	Short stature
ORPHANET:2510	TBC1D20	128637	HP:0002650	Scoliosis
ORPHANET:2510	TBC1D20	128637	HP:0000649	Abnormality of visual evoked potentials
ORPHANET:2510	TBC1D20	128637	HP:0000463	Anteverted nares
ORPHANET:2510	TBC1D20	128637	HP:0100543	Cognitive impairment
ORPHANET:2510	TBC1D20	128637	HP:0000518	Cataract
ORPHANET:2510	TBC1D20	128637	HP:0000055	Abnormality of female external genitalia
ORPHANET:2510	TBC1D20	128637	HP:0000998	Hypertrichosis
ORPHANET:2510	TBC1D20	128637	HP:0001250	Seizures
ORPHANET:2510	TBC1D20	128637	HP:0008736	Hypoplasia of penis
ORPHANET:2510	TBC1D20	128637	HP:0000567	Chorioretinal coloboma
ORPHANET:2510	TBC1D20	128637	HP:0000482	Microcornea
ORPHANET:2510	TBC1D20	128637	HP:0000028	Cryptorchidism
ORPHANET:2510	TBC1D20	128637	HP:0001376	Limitation of joint mobility
ORPHANET:2510	TBC1D20	128637	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2510	TBC1D20	128637	HP:0000322	Short philtrum
ORPHANET:2510	TBC1D20	128637	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:2510	TBC1D20	128637	HP:0000174	Abnormality of the palate
ORPHANET:2510	TBC1D20	128637	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2510	TBC1D20	128637	HP:0000431	Wide nasal bridge
OMIM:613980	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:613980	GATA4	2626	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:613980	GATA6	2627	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:613980	KCNE2	9992	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:613980	KCNQ1	3784	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:613980	KCNE1	3753	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:613980	NKX2-5	1482	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:613980	ABCC9	10060	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:613980	GJA5	2702	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:613980	NPPA	4878	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:613980	KCNJ2	3759	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:613980	NKX2-6	137814	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:613980	GATA5	140628	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:613980	SCN2B	6327	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:613980	SCN3B	55800	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:613980	SCN4B	6330	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613980	SCN5A	6331	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:613980	PITX2	5308	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
OMIM:613980	KCNA5	3741	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613980	NUP155	9631	HP:0000006	Autosomal dominant inheritance
OMIM:613980	NUP155	9631	HP:0004757	Paroxysmal atrial fibrillation
OMIM:225200	FBN1	2200	HP:0000541	Retinal detachment
OMIM:225200	FBN1	2200	HP:0000518	Cataract
OMIM:225200	FBN1	2200	HP:0000007	Autosomal recessive inheritance
OMIM:225200	FBN1	2200	HP:0001083	Ectopia lentis
OMIM:225200	FBN1	2200	HP:0009917	Persistent pupillary membrane
OMIM:225200	FBN1	2200	HP:0011003	Severe Myopia
OMIM:225200	ADAMTSL4	54507	HP:0000541	Retinal detachment
OMIM:225200	ADAMTSL4	54507	HP:0000518	Cataract
OMIM:225200	ADAMTSL4	54507	HP:0000007	Autosomal recessive inheritance
OMIM:225200	ADAMTSL4	54507	HP:0001083	Ectopia lentis
OMIM:225200	ADAMTSL4	54507	HP:0009917	Persistent pupillary membrane
OMIM:225200	ADAMTSL4	54507	HP:0011003	Severe Myopia
OMIM:268025	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:268025	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:268025	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:268025	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:268025	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:268025	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:268025	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:268025	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:268025	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:268025	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:268025	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:268025	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:268025	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:268025	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:268025	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:268025	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:268025	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:268025	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:268025	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:268025	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:268025	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:268025	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:268025	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:268025	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:268025	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:268025	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:268025	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:268025	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:268025	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:268025	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:268025	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:268025	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:268025	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:268025	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:268025	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:268025	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:268025	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:268025	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:268025	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:268025	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:268025	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:268025	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:268025	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:268025	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:268025	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:268025	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:268025	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:268025	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:268025	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:268025	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:268025	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:268025	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:268025	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:268025	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:268025	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:268025	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:268025	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:268025	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:268025	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:268025	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:268025	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:268025	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:268025	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:268025	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:268025	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:268025	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:268025	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:268025	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:268025	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:268025	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:268025	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:268025	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:268025	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:268025	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:268025	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:268025	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:268025	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:268025	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:268025	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:268025	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:268025	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:268025	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:268025	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:268025	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:268025	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:268025	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:268025	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:268025	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:268025	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:268025	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:268025	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:268025	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:268025	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:268025	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:268025	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:268025	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:268025	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:268025	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:268025	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:268025	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:268025	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:268025	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:268025	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:268025	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:268025	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:268025	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:268025	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:268025	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:268025	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:268025	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:268025	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:268025	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:268025	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:268025	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:268025	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:268025	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:268025	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:268025	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:268025	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:268025	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:268025	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:268025	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:268025	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:268025	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:268025	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:268025	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:268025	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:616370	ISCA2	122961	HP:0001344	Absent speech
OMIM:616370	ISCA2	122961	HP:0000648	Optic atrophy
OMIM:616370	ISCA2	122961	HP:0002518	Abnormality of the periventricular white matter
OMIM:616370	ISCA2	122961	HP:0002415	Leukodystrophy
OMIM:616370	ISCA2	122961	HP:0001257	Spasticity
OMIM:255995	STAC3	246329	HP:0011968	Feeding difficulties
OMIM:255995	STAC3	246329	HP:0001265	Hyporeflexia
OMIM:255995	STAC3	246329	HP:0000347	Micrognathia
OMIM:255995	STAC3	246329	HP:0001371	Flexion contracture
OMIM:255995	STAC3	246329	HP:0002714	Downturned corners of mouth
OMIM:255995	STAC3	246329	HP:0000007	Autosomal recessive inheritance
OMIM:255995	STAC3	246329	HP:0000369	Low-set ears
OMIM:255995	STAC3	246329	HP:0000508	Ptosis
OMIM:255995	STAC3	246329	HP:0000506	Telecanthus
OMIM:255995	STAC3	246329	HP:0000494	Downslanted palpebral fissures
OMIM:255995	STAC3	246329	HP:0002119	Ventriculomegaly
OMIM:255995	STAC3	246329	HP:0004322	Short stature
OMIM:255995	STAC3	246329	HP:0001249	Intellectual disability
OMIM:255995	STAC3	246329	HP:0000218	High palate
OMIM:255995	STAC3	246329	HP:0001324	Muscle weakness
OMIM:255995	STAC3	246329	HP:0001883	Talipes
OMIM:255995	STAC3	246329	HP:0000175	Cleft palate
OMIM:255995	STAC3	246329	HP:0002751	Kyphoscoliosis
OMIM:255995	STAC3	246329	HP:0012745	Short palpebral fissure
OMIM:255995	STAC3	246329	HP:0000028	Cryptorchidism
OMIM:255995	STAC3	246329	HP:0003202	Skeletal muscle atrophy
OMIM:255995	STAC3	246329	HP:0000581	Blepharophimosis
OMIM:607313	ROBO3	64221	HP:0000639	Nystagmus
OMIM:607313	ROBO3	64221	HP:0002808	Kyphosis
OMIM:607313	ROBO3	64221	HP:0000407	Sensorineural hearing impairment
OMIM:607313	ROBO3	64221	HP:0000470	Short neck
OMIM:607313	ROBO3	64221	HP:0002944	Thoracolumbar scoliosis
OMIM:607313	ROBO3	64221	HP:0000007	Autosomal recessive inheritance
OMIM:607313	ROBO3	64221	HP:0001250	Seizures
OMIM:607313	ROBO3	64221	HP:0003577	Congenital onset
OMIM:607313	ROBO3	64221	HP:0100543	Cognitive impairment
OMIM:131960	KRT14	3861	HP:0002164	Nail dysplasia
OMIM:131960	KRT14	3861	HP:0008404	Nail dystrophy
OMIM:131960	KRT14	3861	HP:0001053	Hypopigmented skin patches
OMIM:131960	KRT14	3861	HP:0007495	Prematurely aged appearance
OMIM:131960	KRT14	3861	HP:0000982	Palmoplantar keratoderma
OMIM:131960	KRT14	3861	HP:0001231	Abnormality of the fingernails
OMIM:131960	KRT14	3861	HP:0000006	Autosomal dominant inheritance
OMIM:131960	KRT14	3861	HP:0000978	Bruising susceptibility
OMIM:131960	KRT5	3852	HP:0002164	Nail dysplasia
OMIM:131960	KRT5	3852	HP:0008404	Nail dystrophy
OMIM:131960	KRT5	3852	HP:0001053	Hypopigmented skin patches
OMIM:131960	KRT5	3852	HP:0007495	Prematurely aged appearance
OMIM:131960	KRT5	3852	HP:0000982	Palmoplantar keratoderma
OMIM:131960	KRT5	3852	HP:0001231	Abnormality of the fingernails
OMIM:131960	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:131960	KRT5	3852	HP:0000978	Bruising susceptibility
OMIM:208920	APTX	54840	HP:0002650	Scoliosis
OMIM:208920	APTX	54840	HP:0001284	Areflexia
OMIM:208920	APTX	54840	HP:0001324	Muscle weakness
OMIM:208920	APTX	54840	HP:0002070	Limb ataxia
OMIM:208920	APTX	54840	HP:0000007	Autosomal recessive inheritance
OMIM:208920	APTX	54840	HP:0001332	Dystonia
OMIM:208920	APTX	54840	HP:0001337	Tremor
OMIM:208920	APTX	54840	HP:0001265	Hyporeflexia
OMIM:208920	APTX	54840	HP:0000764	Peripheral axonal degeneration
OMIM:208920	APTX	54840	HP:0001260	Dysarthria
OMIM:208920	APTX	54840	HP:0010747	Medial flaring of the eyebrow
OMIM:208920	APTX	54840	HP:0003124	Hypercholesterolemia
OMIM:208920	APTX	54840	HP:0001268	Mental deterioration
OMIM:208920	APTX	54840	HP:0001272	Cerebellar atrophy
OMIM:208920	APTX	54840	HP:0001266	Choreoathetosis
OMIM:208920	APTX	54840	HP:0003581	Adult onset
OMIM:208920	APTX	54840	HP:0000657	Oculomotor apraxia
OMIM:208920	APTX	54840	HP:0002311	Incoordination
OMIM:208920	APTX	54840	HP:0001761	Pes cavus
OMIM:208920	APTX	54840	HP:0000640	Gaze-evoked nystagmus
OMIM:208920	APTX	54840	HP:0003073	Hypoalbuminemia
OMIM:208920	APTX	54840	HP:0002066	Gait ataxia
OMIM:208920	APTX	54840	HP:0002936	Distal sensory impairment
OMIM:208920	APTX	54840	HP:0003621	Juvenile onset
OMIM:208920	APTX	54840	HP:0003693	Distal amyotrophy
OMIM:208920	APTX	54840	HP:0000571	Hypometric saccades
OMIM:208920	APTX	54840	HP:0002078	Truncal ataxia
OMIM:208920	APTX	54840	HP:0001251	Ataxia
OMIM:208920	APTX	54840	HP:0100543	Cognitive impairment
OMIM:614483	COL4A1	1282	HP:0002170	Intracranial hemorrhage
OMIM:614483	COL4A1	1282	HP:0000006	Autosomal dominant inheritance
OMIM:614483	COL4A1	1282	HP:0002119	Ventriculomegaly
OMIM:614483	COL4A1	1282	HP:0003829	Incomplete penetrance
OMIM:614483	COL4A1	1282	HP:0001257	Spasticity
OMIM:614483	COL4A1	1282	HP:0001250	Seizures
OMIM:614483	COL4A1	1282	HP:0001263	Global developmental delay
OMIM:614483	COL4A1	1282	HP:0002132	Porencephaly
OMIM:614483	COL4A1	1282	HP:0003828	Variable expressivity
OMIM:614483	COL4A2	1284	HP:0002170	Intracranial hemorrhage
OMIM:614483	COL4A2	1284	HP:0000006	Autosomal dominant inheritance
OMIM:614483	COL4A2	1284	HP:0002119	Ventriculomegaly
OMIM:614483	COL4A2	1284	HP:0003829	Incomplete penetrance
OMIM:614483	COL4A2	1284	HP:0001257	Spasticity
OMIM:614483	COL4A2	1284	HP:0001250	Seizures
OMIM:614483	COL4A2	1284	HP:0001263	Global developmental delay
OMIM:614483	COL4A2	1284	HP:0002132	Porencephaly
OMIM:614483	COL4A2	1284	HP:0003828	Variable expressivity
OMIM:145980	CASR	846	HP:0000006	Autosomal dominant inheritance
OMIM:145980	CASR	846	HP:0003072	Hypercalcemia
OMIM:145980	CASR	846	HP:0000787	Nephrolithiasis
OMIM:145980	CASR	846	HP:0001733	Pancreatitis
OMIM:145980	CASR	846	HP:0000843	Hyperparathyroidism
OMIM:193520	NF1	4763	HP:0001626	Abnormality of the cardiovascular system
OMIM:193520	NF1	4763	HP:0004322	Short stature
OMIM:193520	NF1	4763	HP:0000006	Autosomal dominant inheritance
OMIM:193520	NF1	4763	HP:0004482	Relative macrocephaly
OMIM:193520	NF1	4763	HP:0001067	Neurofibromas
OMIM:193520	NF1	4763	HP:0007565	Multiple cafe-au-lait spots
OMIM:610125	OTX2	5015	HP:0000028	Cryptorchidism
OMIM:610125	OTX2	5015	HP:0000482	Microcornea
OMIM:610125	OTX2	5015	HP:0001250	Seizures
OMIM:610125	OTX2	5015	HP:0000518	Cataract
OMIM:610125	OTX2	5015	HP:0000589	Coloboma
OMIM:610125	OTX2	5015	HP:0000556	Retinal dystrophy
OMIM:610125	OTX2	5015	HP:0000054	Micropenis
OMIM:610125	OTX2	5015	HP:0001388	Joint laxity
OMIM:610125	OTX2	5015	HP:0004322	Short stature
OMIM:610125	OTX2	5015	HP:0001263	Global developmental delay
OMIM:610125	OTX2	5015	HP:0001252	Muscular hypotonia
OMIM:610125	OTX2	5015	HP:0000175	Cleft palate
OMIM:610125	OTX2	5015	HP:0000568	Microphthalmia
OMIM:610125	OTX2	5015	HP:0000006	Autosomal dominant inheritance
OMIM:616502	AIPL1	23746	HP:0000613	Photophobia
OMIM:616502	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:616502	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:616502	AIPL1	23746	HP:0007401	Macular atrophy
OMIM:616502	PITPNM3	83394	HP:0000613	Photophobia
OMIM:616502	PITPNM3	83394	HP:0007663	Reduced visual acuity
OMIM:616502	PITPNM3	83394	HP:0000662	Nyctalopia
OMIM:616502	PITPNM3	83394	HP:0007401	Macular atrophy
OMIM:616502	OPN1LW	5956	HP:0000613	Photophobia
OMIM:616502	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:616502	OPN1LW	5956	HP:0000662	Nyctalopia
OMIM:616502	OPN1LW	5956	HP:0007401	Macular atrophy
OMIM:616502	UNC119	9094	HP:0000613	Photophobia
OMIM:616502	UNC119	9094	HP:0007663	Reduced visual acuity
OMIM:616502	UNC119	9094	HP:0000662	Nyctalopia
OMIM:616502	UNC119	9094	HP:0007401	Macular atrophy
OMIM:616502	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:616502	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:616502	RPGRIP1	57096	HP:0000662	Nyctalopia
OMIM:616502	RPGRIP1	57096	HP:0007401	Macular atrophy
OMIM:616502	PRPH2	5961	HP:0000613	Photophobia
OMIM:616502	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:616502	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:616502	PRPH2	5961	HP:0007401	Macular atrophy
OMIM:616502	CACNA1F	778	HP:0000613	Photophobia
OMIM:616502	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:616502	CACNA1F	778	HP:0000662	Nyctalopia
OMIM:616502	CACNA1F	778	HP:0007401	Macular atrophy
OMIM:616502	PROM1	8842	HP:0000613	Photophobia
OMIM:616502	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:616502	PROM1	8842	HP:0000662	Nyctalopia
OMIM:616502	PROM1	8842	HP:0007401	Macular atrophy
OMIM:616502	DRAM2	128338	HP:0000613	Photophobia
OMIM:616502	DRAM2	128338	HP:0007663	Reduced visual acuity
OMIM:616502	DRAM2	128338	HP:0000662	Nyctalopia
OMIM:616502	DRAM2	128338	HP:0007401	Macular atrophy
OMIM:616502	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:616502	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:616502	CACNA2D4	93589	HP:0000662	Nyctalopia
OMIM:616502	CACNA2D4	93589	HP:0007401	Macular atrophy
OMIM:616502	RAB28	9364	HP:0000613	Photophobia
OMIM:616502	RAB28	9364	HP:0007663	Reduced visual acuity
OMIM:616502	RAB28	9364	HP:0000662	Nyctalopia
OMIM:616502	RAB28	9364	HP:0007401	Macular atrophy
OMIM:616502	RIMS1	22999	HP:0000613	Photophobia
OMIM:616502	RIMS1	22999	HP:0007663	Reduced visual acuity
OMIM:616502	RIMS1	22999	HP:0000662	Nyctalopia
OMIM:616502	RIMS1	22999	HP:0007401	Macular atrophy
OMIM:616502	RPGR	6103	HP:0000613	Photophobia
OMIM:616502	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:616502	RPGR	6103	HP:0000662	Nyctalopia
OMIM:616502	RPGR	6103	HP:0007401	Macular atrophy
OMIM:616502	ABCA4	24	HP:0000613	Photophobia
OMIM:616502	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:616502	ABCA4	24	HP:0000662	Nyctalopia
OMIM:616502	ABCA4	24	HP:0007401	Macular atrophy
OMIM:616502	SEMA4A	64218	HP:0000613	Photophobia
OMIM:616502	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:616502	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:616502	SEMA4A	64218	HP:0007401	Macular atrophy
OMIM:616502	C8ORF37	157657	HP:0000613	Photophobia
OMIM:616502	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:616502	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:616502	C8ORF37	157657	HP:0007401	Macular atrophy
OMIM:616502	OPN1MW	2652	HP:0000613	Photophobia
OMIM:616502	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:616502	OPN1MW	2652	HP:0000662	Nyctalopia
OMIM:616502	OPN1MW	2652	HP:0007401	Macular atrophy
OMIM:616502	GUCA1A	2978	HP:0000613	Photophobia
OMIM:616502	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:616502	GUCA1A	2978	HP:0000662	Nyctalopia
OMIM:616502	GUCA1A	2978	HP:0007401	Macular atrophy
OMIM:616502	RAX2	84839	HP:0000613	Photophobia
OMIM:616502	RAX2	84839	HP:0007663	Reduced visual acuity
OMIM:616502	RAX2	84839	HP:0000662	Nyctalopia
OMIM:616502	RAX2	84839	HP:0007401	Macular atrophy
OMIM:616502	CNGA3	1261	HP:0000613	Photophobia
OMIM:616502	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:616502	CNGA3	1261	HP:0000662	Nyctalopia
OMIM:616502	CNGA3	1261	HP:0007401	Macular atrophy
OMIM:616502	ADAM9	8754	HP:0000613	Photophobia
OMIM:616502	ADAM9	8754	HP:0007663	Reduced visual acuity
OMIM:616502	ADAM9	8754	HP:0000662	Nyctalopia
OMIM:616502	ADAM9	8754	HP:0007401	Macular atrophy
OMIM:616502	CDHR1	92211	HP:0000613	Photophobia
OMIM:616502	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:616502	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:616502	CDHR1	92211	HP:0007401	Macular atrophy
OMIM:616502	TTLL5	23093	HP:0000613	Photophobia
OMIM:616502	TTLL5	23093	HP:0007663	Reduced visual acuity
OMIM:616502	TTLL5	23093	HP:0000662	Nyctalopia
OMIM:616502	TTLL5	23093	HP:0007401	Macular atrophy
OMIM:616502	GUCY2D	3000	HP:0000613	Photophobia
OMIM:616502	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:616502	GUCY2D	3000	HP:0000662	Nyctalopia
OMIM:616502	GUCY2D	3000	HP:0007401	Macular atrophy
OMIM:616502	POC1B	282809	HP:0000613	Photophobia
OMIM:616502	POC1B	282809	HP:0007663	Reduced visual acuity
OMIM:616502	POC1B	282809	HP:0000662	Nyctalopia
OMIM:616502	POC1B	282809	HP:0007401	Macular atrophy
OMIM:616502	CRX	1406	HP:0000613	Photophobia
OMIM:616502	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:616502	CRX	1406	HP:0000662	Nyctalopia
OMIM:616502	CRX	1406	HP:0007401	Macular atrophy
OMIM:613506	BLNK	29760	HP:0000369	Low-set ears
OMIM:613506	BLNK	29760	HP:0000218	High palate
OMIM:613506	BLNK	29760	HP:0000286	Epicanthus
OMIM:613506	BLNK	29760	HP:0004432	Agammaglobulinemia
OMIM:613506	BLNK	29760	HP:0000316	Hypertelorism
OMIM:613506	BLNK	29760	HP:0000006	Autosomal dominant inheritance
OMIM:613506	TCF3	6929	HP:0000369	Low-set ears
OMIM:613506	TCF3	6929	HP:0000218	High palate
OMIM:613506	TCF3	6929	HP:0000286	Epicanthus
OMIM:613506	TCF3	6929	HP:0004432	Agammaglobulinemia
OMIM:613506	TCF3	6929	HP:0000316	Hypertelorism
OMIM:613506	TCF3	6929	HP:0000006	Autosomal dominant inheritance
OMIM:613506	IGHM	3507	HP:0000369	Low-set ears
OMIM:613506	IGHM	3507	HP:0000218	High palate
OMIM:613506	IGHM	3507	HP:0000286	Epicanthus
OMIM:613506	IGHM	3507	HP:0004432	Agammaglobulinemia
OMIM:613506	IGHM	3507	HP:0000316	Hypertelorism
OMIM:613506	IGHM	3507	HP:0000006	Autosomal dominant inheritance
OMIM:613506	LRRC8A	56262	HP:0000369	Low-set ears
OMIM:613506	LRRC8A	56262	HP:0000218	High palate
OMIM:613506	LRRC8A	56262	HP:0000286	Epicanthus
OMIM:613506	LRRC8A	56262	HP:0004432	Agammaglobulinemia
OMIM:613506	LRRC8A	56262	HP:0000316	Hypertelorism
OMIM:613506	LRRC8A	56262	HP:0000006	Autosomal dominant inheritance
OMIM:613506	IGLL1	3543	HP:0000369	Low-set ears
OMIM:613506	IGLL1	3543	HP:0000218	High palate
OMIM:613506	IGLL1	3543	HP:0000286	Epicanthus
OMIM:613506	IGLL1	3543	HP:0004432	Agammaglobulinemia
OMIM:613506	IGLL1	3543	HP:0000316	Hypertelorism
OMIM:613506	IGLL1	3543	HP:0000006	Autosomal dominant inheritance
OMIM:613506	CD79A	973	HP:0000369	Low-set ears
OMIM:613506	CD79A	973	HP:0000218	High palate
OMIM:613506	CD79A	973	HP:0000286	Epicanthus
OMIM:613506	CD79A	973	HP:0004432	Agammaglobulinemia
OMIM:613506	CD79A	973	HP:0000316	Hypertelorism
OMIM:613506	CD79A	973	HP:0000006	Autosomal dominant inheritance
OMIM:613506	CD79B	974	HP:0000369	Low-set ears
OMIM:613506	CD79B	974	HP:0000218	High palate
OMIM:613506	CD79B	974	HP:0000286	Epicanthus
OMIM:613506	CD79B	974	HP:0004432	Agammaglobulinemia
OMIM:613506	CD79B	974	HP:0000316	Hypertelorism
OMIM:613506	CD79B	974	HP:0000006	Autosomal dominant inheritance
OMIM:613506	PIK3R1	5295	HP:0000369	Low-set ears
OMIM:613506	PIK3R1	5295	HP:0000218	High palate
OMIM:613506	PIK3R1	5295	HP:0000286	Epicanthus
OMIM:613506	PIK3R1	5295	HP:0004432	Agammaglobulinemia
OMIM:613506	PIK3R1	5295	HP:0000316	Hypertelorism
OMIM:613506	PIK3R1	5295	HP:0000006	Autosomal dominant inheritance
OMIM:613581	RLBP1	6017	HP:0000505	Visual impairment
OMIM:613581	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613581	RLBP1	6017	HP:0007663	Reduced visual acuity
OMIM:613581	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613581	RLBP1	6017	HP:0007787	Posterior subcapsular cataract
OMIM:613581	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613581	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613581	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613581	SPATA7	55812	HP:0007663	Reduced visual acuity
OMIM:613581	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613581	SPATA7	55812	HP:0007787	Posterior subcapsular cataract
OMIM:613581	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613581	ARL6	84100	HP:0000505	Visual impairment
OMIM:613581	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613581	ARL6	84100	HP:0007663	Reduced visual acuity
OMIM:613581	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613581	ARL6	84100	HP:0007787	Posterior subcapsular cataract
OMIM:613581	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613581	CERKL	375298	HP:0000505	Visual impairment
OMIM:613581	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613581	CERKL	375298	HP:0007663	Reduced visual acuity
OMIM:613581	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613581	CERKL	375298	HP:0007787	Posterior subcapsular cataract
OMIM:613581	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613581	PRPF31	26121	HP:0000505	Visual impairment
OMIM:613581	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613581	PRPF31	26121	HP:0007663	Reduced visual acuity
OMIM:613581	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613581	PRPF31	26121	HP:0007787	Posterior subcapsular cataract
OMIM:613581	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613581	TTC8	123016	HP:0000505	Visual impairment
OMIM:613581	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613581	TTC8	123016	HP:0007663	Reduced visual acuity
OMIM:613581	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613581	TTC8	123016	HP:0007787	Posterior subcapsular cataract
OMIM:613581	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613581	PROM1	8842	HP:0000505	Visual impairment
OMIM:613581	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613581	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:613581	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613581	PROM1	8842	HP:0007787	Posterior subcapsular cataract
OMIM:613581	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613581	LRAT	9227	HP:0000505	Visual impairment
OMIM:613581	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613581	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:613581	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613581	LRAT	9227	HP:0007787	Posterior subcapsular cataract
OMIM:613581	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613581	IFT140	9742	HP:0000505	Visual impairment
OMIM:613581	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613581	IFT140	9742	HP:0007663	Reduced visual acuity
OMIM:613581	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613581	IFT140	9742	HP:0007787	Posterior subcapsular cataract
OMIM:613581	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613581	BEST1	7439	HP:0000505	Visual impairment
OMIM:613581	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613581	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:613581	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613581	BEST1	7439	HP:0007787	Posterior subcapsular cataract
OMIM:613581	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613581	NEK2	4751	HP:0000505	Visual impairment
OMIM:613581	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613581	NEK2	4751	HP:0007663	Reduced visual acuity
OMIM:613581	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613581	NEK2	4751	HP:0007787	Posterior subcapsular cataract
OMIM:613581	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613581	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:613581	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613581	ARL2BP	23568	HP:0007663	Reduced visual acuity
OMIM:613581	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613581	ARL2BP	23568	HP:0007787	Posterior subcapsular cataract
OMIM:613581	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613581	NR2E3	10002	HP:0000505	Visual impairment
OMIM:613581	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613581	NR2E3	10002	HP:0007663	Reduced visual acuity
OMIM:613581	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613581	NR2E3	10002	HP:0007787	Posterior subcapsular cataract
OMIM:613581	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613581	EYS	346007	HP:0000505	Visual impairment
OMIM:613581	EYS	346007	HP:0000662	Nyctalopia
OMIM:613581	EYS	346007	HP:0007663	Reduced visual acuity
OMIM:613581	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613581	EYS	346007	HP:0007787	Posterior subcapsular cataract
OMIM:613581	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613581	MAK	4117	HP:0000505	Visual impairment
OMIM:613581	MAK	4117	HP:0000662	Nyctalopia
OMIM:613581	MAK	4117	HP:0007663	Reduced visual acuity
OMIM:613581	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613581	MAK	4117	HP:0007787	Posterior subcapsular cataract
OMIM:613581	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613581	SAG	6295	HP:0000505	Visual impairment
OMIM:613581	SAG	6295	HP:0000662	Nyctalopia
OMIM:613581	SAG	6295	HP:0007663	Reduced visual acuity
OMIM:613581	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613581	SAG	6295	HP:0007787	Posterior subcapsular cataract
OMIM:613581	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613581	ABCA4	24	HP:0000505	Visual impairment
OMIM:613581	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613581	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:613581	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613581	ABCA4	24	HP:0007787	Posterior subcapsular cataract
OMIM:613581	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613581	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613581	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613581	PDE6A	5145	HP:0007663	Reduced visual acuity
OMIM:613581	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613581	PDE6A	5145	HP:0007787	Posterior subcapsular cataract
OMIM:613581	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613581	PDE6G	5148	HP:0000505	Visual impairment
OMIM:613581	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613581	PDE6G	5148	HP:0007663	Reduced visual acuity
OMIM:613581	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613581	PDE6G	5148	HP:0007787	Posterior subcapsular cataract
OMIM:613581	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613581	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613581	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613581	IMPDH1	3614	HP:0007663	Reduced visual acuity
OMIM:613581	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613581	IMPDH1	3614	HP:0007787	Posterior subcapsular cataract
OMIM:613581	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613581	OFD1	8481	HP:0000505	Visual impairment
OMIM:613581	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613581	OFD1	8481	HP:0007663	Reduced visual acuity
OMIM:613581	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613581	OFD1	8481	HP:0007787	Posterior subcapsular cataract
OMIM:613581	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613581	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613581	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613581	GUCA1B	2979	HP:0007663	Reduced visual acuity
OMIM:613581	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613581	GUCA1B	2979	HP:0007787	Posterior subcapsular cataract
OMIM:613581	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613581	NRL	4901	HP:0000505	Visual impairment
OMIM:613581	NRL	4901	HP:0000662	Nyctalopia
OMIM:613581	NRL	4901	HP:0007663	Reduced visual acuity
OMIM:613581	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613581	NRL	4901	HP:0007787	Posterior subcapsular cataract
OMIM:613581	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613581	PDE6B	5158	HP:0000505	Visual impairment
OMIM:613581	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613581	PDE6B	5158	HP:0007663	Reduced visual acuity
OMIM:613581	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613581	PDE6B	5158	HP:0007787	Posterior subcapsular cataract
OMIM:613581	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613581	KLHL7	55975	HP:0000505	Visual impairment
OMIM:613581	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613581	KLHL7	55975	HP:0007663	Reduced visual acuity
OMIM:613581	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613581	KLHL7	55975	HP:0007787	Posterior subcapsular cataract
OMIM:613581	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613581	PRPF4	9128	HP:0000505	Visual impairment
OMIM:613581	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613581	PRPF4	9128	HP:0007663	Reduced visual acuity
OMIM:613581	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613581	PRPF4	9128	HP:0007787	Posterior subcapsular cataract
OMIM:613581	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613581	PRPF3	9129	HP:0000505	Visual impairment
OMIM:613581	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613581	PRPF3	9129	HP:0007663	Reduced visual acuity
OMIM:613581	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613581	PRPF3	9129	HP:0007787	Posterior subcapsular cataract
OMIM:613581	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613581	FAM161A	84140	HP:0000505	Visual impairment
OMIM:613581	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613581	FAM161A	84140	HP:0007663	Reduced visual acuity
OMIM:613581	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613581	FAM161A	84140	HP:0007787	Posterior subcapsular cataract
OMIM:613581	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613581	IFT172	26160	HP:0000505	Visual impairment
OMIM:613581	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613581	IFT172	26160	HP:0007663	Reduced visual acuity
OMIM:613581	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613581	IFT172	26160	HP:0007787	Posterior subcapsular cataract
OMIM:613581	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613581	KIZ	55857	HP:0000505	Visual impairment
OMIM:613581	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613581	KIZ	55857	HP:0007663	Reduced visual acuity
OMIM:613581	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613581	KIZ	55857	HP:0007787	Posterior subcapsular cataract
OMIM:613581	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613581	CDHR1	92211	HP:0000505	Visual impairment
OMIM:613581	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613581	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:613581	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613581	CDHR1	92211	HP:0007787	Posterior subcapsular cataract
OMIM:613581	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613581	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613581	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613581	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:613581	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613581	ZNF408	79797	HP:0007787	Posterior subcapsular cataract
OMIM:613581	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613581	RBP3	5949	HP:0000505	Visual impairment
OMIM:613581	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613581	RBP3	5949	HP:0007663	Reduced visual acuity
OMIM:613581	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613581	RBP3	5949	HP:0007787	Posterior subcapsular cataract
OMIM:613581	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613581	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:613581	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613581	HGSNAT	138050	HP:0007663	Reduced visual acuity
OMIM:613581	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613581	HGSNAT	138050	HP:0007787	Posterior subcapsular cataract
OMIM:613581	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613581	FSCN2	25794	HP:0000505	Visual impairment
OMIM:613581	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613581	FSCN2	25794	HP:0007663	Reduced visual acuity
OMIM:613581	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613581	FSCN2	25794	HP:0007787	Posterior subcapsular cataract
OMIM:613581	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613581	PRCD	768206	HP:0000505	Visual impairment
OMIM:613581	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613581	PRCD	768206	HP:0007663	Reduced visual acuity
OMIM:613581	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613581	PRCD	768206	HP:0007787	Posterior subcapsular cataract
OMIM:613581	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613581	BBS2	583	HP:0000505	Visual impairment
OMIM:613581	BBS2	583	HP:0000662	Nyctalopia
OMIM:613581	BBS2	583	HP:0007663	Reduced visual acuity
OMIM:613581	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613581	BBS2	583	HP:0007787	Posterior subcapsular cataract
OMIM:613581	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613581	RDH12	145226	HP:0000505	Visual impairment
OMIM:613581	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613581	RDH12	145226	HP:0007663	Reduced visual acuity
OMIM:613581	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613581	RDH12	145226	HP:0007787	Posterior subcapsular cataract
OMIM:613581	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613581	PRPH2	5961	HP:0000505	Visual impairment
OMIM:613581	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613581	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:613581	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613581	PRPH2	5961	HP:0007787	Posterior subcapsular cataract
OMIM:613581	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613581	DHDDS	79947	HP:0000505	Visual impairment
OMIM:613581	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613581	DHDDS	79947	HP:0007663	Reduced visual acuity
OMIM:613581	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613581	DHDDS	79947	HP:0007787	Posterior subcapsular cataract
OMIM:613581	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613581	ROM1	6094	HP:0000505	Visual impairment
OMIM:613581	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613581	ROM1	6094	HP:0007663	Reduced visual acuity
OMIM:613581	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613581	ROM1	6094	HP:0007787	Posterior subcapsular cataract
OMIM:613581	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613581	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613581	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613581	C2ORF71	388939	HP:0007663	Reduced visual acuity
OMIM:613581	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613581	C2ORF71	388939	HP:0007787	Posterior subcapsular cataract
OMIM:613581	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613581	RP9	6100	HP:0000505	Visual impairment
OMIM:613581	RP9	6100	HP:0000662	Nyctalopia
OMIM:613581	RP9	6100	HP:0007663	Reduced visual acuity
OMIM:613581	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613581	RP9	6100	HP:0007787	Posterior subcapsular cataract
OMIM:613581	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613581	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613581	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613581	PRPF6	24148	HP:0007663	Reduced visual acuity
OMIM:613581	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613581	PRPF6	24148	HP:0007787	Posterior subcapsular cataract
OMIM:613581	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613581	RP1	6101	HP:0000505	Visual impairment
OMIM:613581	RP1	6101	HP:0000662	Nyctalopia
OMIM:613581	RP1	6101	HP:0007663	Reduced visual acuity
OMIM:613581	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613581	RP1	6101	HP:0007787	Posterior subcapsular cataract
OMIM:613581	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613581	RP2	6102	HP:0000505	Visual impairment
OMIM:613581	RP2	6102	HP:0000662	Nyctalopia
OMIM:613581	RP2	6102	HP:0007663	Reduced visual acuity
OMIM:613581	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613581	RP2	6102	HP:0007787	Posterior subcapsular cataract
OMIM:613581	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613581	RPGR	6103	HP:0000505	Visual impairment
OMIM:613581	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613581	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:613581	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613581	RPGR	6103	HP:0007787	Posterior subcapsular cataract
OMIM:613581	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613581	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:613581	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613581	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:613581	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613581	SEMA4A	64218	HP:0007787	Posterior subcapsular cataract
OMIM:613581	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613581	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:613581	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613581	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:613581	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613581	C8ORF37	157657	HP:0007787	Posterior subcapsular cataract
OMIM:613581	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613581	IDH3B	3420	HP:0000505	Visual impairment
OMIM:613581	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613581	IDH3B	3420	HP:0007663	Reduced visual acuity
OMIM:613581	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613581	IDH3B	3420	HP:0007787	Posterior subcapsular cataract
OMIM:613581	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613581	MERTK	10461	HP:0000505	Visual impairment
OMIM:613581	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613581	MERTK	10461	HP:0007663	Reduced visual acuity
OMIM:613581	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613581	MERTK	10461	HP:0007787	Posterior subcapsular cataract
OMIM:613581	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613581	PRPF8	10594	HP:0000505	Visual impairment
OMIM:613581	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613581	PRPF8	10594	HP:0007663	Reduced visual acuity
OMIM:613581	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613581	PRPF8	10594	HP:0007787	Posterior subcapsular cataract
OMIM:613581	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613581	TOPORS	10210	HP:0000505	Visual impairment
OMIM:613581	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613581	TOPORS	10210	HP:0007663	Reduced visual acuity
OMIM:613581	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613581	TOPORS	10210	HP:0007787	Posterior subcapsular cataract
OMIM:613581	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613581	USH2A	7399	HP:0000505	Visual impairment
OMIM:613581	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613581	USH2A	7399	HP:0007663	Reduced visual acuity
OMIM:613581	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613581	USH2A	7399	HP:0007787	Posterior subcapsular cataract
OMIM:613581	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613581	RPE65	6121	HP:0000505	Visual impairment
OMIM:613581	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613581	RPE65	6121	HP:0007663	Reduced visual acuity
OMIM:613581	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613581	RPE65	6121	HP:0007787	Posterior subcapsular cataract
OMIM:613581	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613581	CLRN1	7401	HP:0000505	Visual impairment
OMIM:613581	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613581	CLRN1	7401	HP:0007663	Reduced visual acuity
OMIM:613581	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613581	CLRN1	7401	HP:0007787	Posterior subcapsular cataract
OMIM:613581	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613581	CNGB1	1258	HP:0000505	Visual impairment
OMIM:613581	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613581	CNGB1	1258	HP:0007663	Reduced visual acuity
OMIM:613581	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613581	CNGB1	1258	HP:0007787	Posterior subcapsular cataract
OMIM:613581	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613581	RGR	5995	HP:0000505	Visual impairment
OMIM:613581	RGR	5995	HP:0000662	Nyctalopia
OMIM:613581	RGR	5995	HP:0007663	Reduced visual acuity
OMIM:613581	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613581	RGR	5995	HP:0007787	Posterior subcapsular cataract
OMIM:613581	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613581	CNGA1	1259	HP:0000505	Visual impairment
OMIM:613581	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613581	CNGA1	1259	HP:0007663	Reduced visual acuity
OMIM:613581	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613581	CNGA1	1259	HP:0007787	Posterior subcapsular cataract
OMIM:613581	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613581	TUB	7275	HP:0000505	Visual impairment
OMIM:613581	TUB	7275	HP:0000662	Nyctalopia
OMIM:613581	TUB	7275	HP:0007663	Reduced visual acuity
OMIM:613581	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613581	TUB	7275	HP:0007787	Posterior subcapsular cataract
OMIM:613581	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613581	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:613581	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613581	SNRNP200	23020	HP:0007663	Reduced visual acuity
OMIM:613581	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613581	SNRNP200	23020	HP:0007787	Posterior subcapsular cataract
OMIM:613581	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613581	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:613581	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613581	SLC7A14	57709	HP:0007663	Reduced visual acuity
OMIM:613581	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613581	SLC7A14	57709	HP:0007787	Posterior subcapsular cataract
OMIM:613581	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613581	TULP1	7287	HP:0000505	Visual impairment
OMIM:613581	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613581	TULP1	7287	HP:0007663	Reduced visual acuity
OMIM:613581	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613581	TULP1	7287	HP:0007787	Posterior subcapsular cataract
OMIM:613581	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613581	RHO	6010	HP:0000505	Visual impairment
OMIM:613581	RHO	6010	HP:0000662	Nyctalopia
OMIM:613581	RHO	6010	HP:0007663	Reduced visual acuity
OMIM:613581	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613581	RHO	6010	HP:0007787	Posterior subcapsular cataract
OMIM:613581	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613581	CA4	762	HP:0000505	Visual impairment
OMIM:613581	CA4	762	HP:0000662	Nyctalopia
OMIM:613581	CA4	762	HP:0007663	Reduced visual acuity
OMIM:613581	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613581	CA4	762	HP:0007787	Posterior subcapsular cataract
OMIM:613581	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613581	CRB1	23418	HP:0000505	Visual impairment
OMIM:613581	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613581	CRB1	23418	HP:0007663	Reduced visual acuity
OMIM:613581	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613581	CRB1	23418	HP:0007787	Posterior subcapsular cataract
OMIM:613581	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613581	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613581	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613581	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:613581	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613581	IMPG2	50939	HP:0007787	Posterior subcapsular cataract
OMIM:613581	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613581	ZNF513	130557	HP:0000505	Visual impairment
OMIM:613581	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613581	ZNF513	130557	HP:0007663	Reduced visual acuity
OMIM:613581	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613581	ZNF513	130557	HP:0007787	Posterior subcapsular cataract
OMIM:613581	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613581	CRX	1406	HP:0000505	Visual impairment
OMIM:613581	CRX	1406	HP:0000662	Nyctalopia
OMIM:613581	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:613581	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613581	CRX	1406	HP:0007787	Posterior subcapsular cataract
OMIM:613581	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:152700	TREX1	11277	HP:0000123	Nephritis
OMIM:152700	TREX1	11277	HP:0000006	Autosomal dominant inheritance
OMIM:152700	TREX1	11277	HP:0001873	Thrombocytopenia
OMIM:152700	TREX1	11277	HP:0000709	Psychosis
OMIM:152700	TREX1	11277	HP:0000992	Cutaneous photosensitivity
OMIM:152700	TREX1	11277	HP:0001369	Arthritis
OMIM:152700	TREX1	11277	HP:0003493	Antinuclear antibody positivity
OMIM:152700	TREX1	11277	HP:0001882	Leukopenia
OMIM:152700	TREX1	11277	HP:0001250	Seizures
OMIM:152700	TREX1	11277	HP:0001878	Hemolytic anemia
OMIM:152700	TREX1	11277	HP:0002725	Systemic lupus erythematosus
OMIM:119100	BHLHA9	727857	HP:0010109	Short hallux
OMIM:119100	BHLHA9	727857	HP:0001171	Split hand
OMIM:119100	BHLHA9	727857	HP:0006443	Patellar aplasia
OMIM:119100	BHLHA9	727857	HP:0006495	Aplasia/Hypoplasia of the ulna
OMIM:119100	BHLHA9	727857	HP:0000006	Autosomal dominant inheritance
OMIM:119100	BHLHA9	727857	HP:0000378	Cupped ear
OMIM:614077	BLOC1S3	388552	HP:0001022	Albinism
OMIM:614077	BLOC1S3	388552	HP:0001107	Ocular albinism
OMIM:614077	BLOC1S3	388552	HP:0000007	Autosomal recessive inheritance
OMIM:614077	BLOC1S3	388552	HP:0000505	Visual impairment
OMIM:614077	BLOC1S3	388552	HP:0000978	Bruising susceptibility
OMIM:608874	MSX1	4487	HP:0000006	Autosomal dominant inheritance
OMIM:608874	MSX1	4487	HP:0000175	Cleft palate
OMIM:608874	MSX1	4487	HP:0000204	Cleft upper lip
OMIM:125500	DSPP	1834	HP:0000006	Autosomal dominant inheritance
OMIM:613706	RIT1	6016	HP:0000316	Hypertelorism
OMIM:613706	RIT1	6016	HP:0001631	Atria septal defect
OMIM:613706	RIT1	6016	HP:0000369	Low-set ears
OMIM:613706	RIT1	6016	HP:0001252	Muscular hypotonia
OMIM:613706	RIT1	6016	HP:0008872	Feeding difficulties in infancy
OMIM:613706	RIT1	6016	HP:0000391	Thickened helices
OMIM:613706	RIT1	6016	HP:0001249	Intellectual disability
OMIM:613706	RIT1	6016	HP:0000268	Dolichocephaly
OMIM:613706	RIT1	6016	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	RIT1	6016	HP:0001642	Pulmonic stenosis
OMIM:613706	RIT1	6016	HP:0004322	Short stature
OMIM:613706	RIT1	6016	HP:0000006	Autosomal dominant inheritance
OMIM:613706	RIT1	6016	HP:0011220	Prominent forehead
OMIM:613706	BRAF	673	HP:0000316	Hypertelorism
OMIM:613706	BRAF	673	HP:0001631	Atria septal defect
OMIM:613706	BRAF	673	HP:0000369	Low-set ears
OMIM:613706	BRAF	673	HP:0001252	Muscular hypotonia
OMIM:613706	BRAF	673	HP:0008872	Feeding difficulties in infancy
OMIM:613706	BRAF	673	HP:0000391	Thickened helices
OMIM:613706	BRAF	673	HP:0001249	Intellectual disability
OMIM:613706	BRAF	673	HP:0000268	Dolichocephaly
OMIM:613706	BRAF	673	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:613706	BRAF	673	HP:0004322	Short stature
OMIM:613706	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:613706	BRAF	673	HP:0011220	Prominent forehead
OMIM:613706	KAT6B	23522	HP:0000316	Hypertelorism
OMIM:613706	KAT6B	23522	HP:0001631	Atria septal defect
OMIM:613706	KAT6B	23522	HP:0000369	Low-set ears
OMIM:613706	KAT6B	23522	HP:0001252	Muscular hypotonia
OMIM:613706	KAT6B	23522	HP:0008872	Feeding difficulties in infancy
OMIM:613706	KAT6B	23522	HP:0000391	Thickened helices
OMIM:613706	KAT6B	23522	HP:0001249	Intellectual disability
OMIM:613706	KAT6B	23522	HP:0000268	Dolichocephaly
OMIM:613706	KAT6B	23522	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	KAT6B	23522	HP:0001642	Pulmonic stenosis
OMIM:613706	KAT6B	23522	HP:0004322	Short stature
OMIM:613706	KAT6B	23522	HP:0000006	Autosomal dominant inheritance
OMIM:613706	KAT6B	23522	HP:0011220	Prominent forehead
OMIM:613706	RASA2	5922	HP:0000316	Hypertelorism
OMIM:613706	RASA2	5922	HP:0001631	Atria septal defect
OMIM:613706	RASA2	5922	HP:0000369	Low-set ears
OMIM:613706	RASA2	5922	HP:0001252	Muscular hypotonia
OMIM:613706	RASA2	5922	HP:0008872	Feeding difficulties in infancy
OMIM:613706	RASA2	5922	HP:0000391	Thickened helices
OMIM:613706	RASA2	5922	HP:0001249	Intellectual disability
OMIM:613706	RASA2	5922	HP:0000268	Dolichocephaly
OMIM:613706	RASA2	5922	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	RASA2	5922	HP:0001642	Pulmonic stenosis
OMIM:613706	RASA2	5922	HP:0004322	Short stature
OMIM:613706	RASA2	5922	HP:0000006	Autosomal dominant inheritance
OMIM:613706	RASA2	5922	HP:0011220	Prominent forehead
OMIM:613706	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:613706	PTPN11	5781	HP:0001631	Atria septal defect
OMIM:613706	PTPN11	5781	HP:0000369	Low-set ears
OMIM:613706	PTPN11	5781	HP:0001252	Muscular hypotonia
OMIM:613706	PTPN11	5781	HP:0008872	Feeding difficulties in infancy
OMIM:613706	PTPN11	5781	HP:0000391	Thickened helices
OMIM:613706	PTPN11	5781	HP:0001249	Intellectual disability
OMIM:613706	PTPN11	5781	HP:0000268	Dolichocephaly
OMIM:613706	PTPN11	5781	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	PTPN11	5781	HP:0001642	Pulmonic stenosis
OMIM:613706	PTPN11	5781	HP:0004322	Short stature
OMIM:613706	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:613706	PTPN11	5781	HP:0011220	Prominent forehead
OMIM:613706	KRAS	3845	HP:0000316	Hypertelorism
OMIM:613706	KRAS	3845	HP:0001631	Atria septal defect
OMIM:613706	KRAS	3845	HP:0000369	Low-set ears
OMIM:613706	KRAS	3845	HP:0001252	Muscular hypotonia
OMIM:613706	KRAS	3845	HP:0008872	Feeding difficulties in infancy
OMIM:613706	KRAS	3845	HP:0000391	Thickened helices
OMIM:613706	KRAS	3845	HP:0001249	Intellectual disability
OMIM:613706	KRAS	3845	HP:0000268	Dolichocephaly
OMIM:613706	KRAS	3845	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:613706	KRAS	3845	HP:0004322	Short stature
OMIM:613706	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:613706	KRAS	3845	HP:0011220	Prominent forehead
OMIM:613706	RAF1	5894	HP:0000316	Hypertelorism
OMIM:613706	RAF1	5894	HP:0001631	Atria septal defect
OMIM:613706	RAF1	5894	HP:0000369	Low-set ears
OMIM:613706	RAF1	5894	HP:0001252	Muscular hypotonia
OMIM:613706	RAF1	5894	HP:0008872	Feeding difficulties in infancy
OMIM:613706	RAF1	5894	HP:0000391	Thickened helices
OMIM:613706	RAF1	5894	HP:0001249	Intellectual disability
OMIM:613706	RAF1	5894	HP:0000268	Dolichocephaly
OMIM:613706	RAF1	5894	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	RAF1	5894	HP:0001642	Pulmonic stenosis
OMIM:613706	RAF1	5894	HP:0004322	Short stature
OMIM:613706	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:613706	RAF1	5894	HP:0011220	Prominent forehead
OMIM:613706	LZTR1	8216	HP:0000316	Hypertelorism
OMIM:613706	LZTR1	8216	HP:0001631	Atria septal defect
OMIM:613706	LZTR1	8216	HP:0000369	Low-set ears
OMIM:613706	LZTR1	8216	HP:0001252	Muscular hypotonia
OMIM:613706	LZTR1	8216	HP:0008872	Feeding difficulties in infancy
OMIM:613706	LZTR1	8216	HP:0000391	Thickened helices
OMIM:613706	LZTR1	8216	HP:0001249	Intellectual disability
OMIM:613706	LZTR1	8216	HP:0000268	Dolichocephaly
OMIM:613706	LZTR1	8216	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	LZTR1	8216	HP:0001642	Pulmonic stenosis
OMIM:613706	LZTR1	8216	HP:0004322	Short stature
OMIM:613706	LZTR1	8216	HP:0000006	Autosomal dominant inheritance
OMIM:613706	LZTR1	8216	HP:0011220	Prominent forehead
OMIM:613706	A2ML1	144568	HP:0000316	Hypertelorism
OMIM:613706	A2ML1	144568	HP:0001631	Atria septal defect
OMIM:613706	A2ML1	144568	HP:0000369	Low-set ears
OMIM:613706	A2ML1	144568	HP:0001252	Muscular hypotonia
OMIM:613706	A2ML1	144568	HP:0008872	Feeding difficulties in infancy
OMIM:613706	A2ML1	144568	HP:0000391	Thickened helices
OMIM:613706	A2ML1	144568	HP:0001249	Intellectual disability
OMIM:613706	A2ML1	144568	HP:0000268	Dolichocephaly
OMIM:613706	A2ML1	144568	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	A2ML1	144568	HP:0001642	Pulmonic stenosis
OMIM:613706	A2ML1	144568	HP:0004322	Short stature
OMIM:613706	A2ML1	144568	HP:0000006	Autosomal dominant inheritance
OMIM:613706	A2ML1	144568	HP:0011220	Prominent forehead
OMIM:613706	NRAS	4893	HP:0000316	Hypertelorism
OMIM:613706	NRAS	4893	HP:0001631	Atria septal defect
OMIM:613706	NRAS	4893	HP:0000369	Low-set ears
OMIM:613706	NRAS	4893	HP:0001252	Muscular hypotonia
OMIM:613706	NRAS	4893	HP:0008872	Feeding difficulties in infancy
OMIM:613706	NRAS	4893	HP:0000391	Thickened helices
OMIM:613706	NRAS	4893	HP:0001249	Intellectual disability
OMIM:613706	NRAS	4893	HP:0000268	Dolichocephaly
OMIM:613706	NRAS	4893	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	NRAS	4893	HP:0001642	Pulmonic stenosis
OMIM:613706	NRAS	4893	HP:0004322	Short stature
OMIM:613706	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:613706	NRAS	4893	HP:0011220	Prominent forehead
OMIM:613706	SOS1	6654	HP:0000316	Hypertelorism
OMIM:613706	SOS1	6654	HP:0001631	Atria septal defect
OMIM:613706	SOS1	6654	HP:0000369	Low-set ears
OMIM:613706	SOS1	6654	HP:0001252	Muscular hypotonia
OMIM:613706	SOS1	6654	HP:0008872	Feeding difficulties in infancy
OMIM:613706	SOS1	6654	HP:0000391	Thickened helices
OMIM:613706	SOS1	6654	HP:0001249	Intellectual disability
OMIM:613706	SOS1	6654	HP:0000268	Dolichocephaly
OMIM:613706	SOS1	6654	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	SOS1	6654	HP:0001642	Pulmonic stenosis
OMIM:613706	SOS1	6654	HP:0004322	Short stature
OMIM:613706	SOS1	6654	HP:0000006	Autosomal dominant inheritance
OMIM:613706	SOS1	6654	HP:0011220	Prominent forehead
OMIM:613706	SOS2	6655	HP:0000316	Hypertelorism
OMIM:613706	SOS2	6655	HP:0001631	Atria septal defect
OMIM:613706	SOS2	6655	HP:0000369	Low-set ears
OMIM:613706	SOS2	6655	HP:0001252	Muscular hypotonia
OMIM:613706	SOS2	6655	HP:0008872	Feeding difficulties in infancy
OMIM:613706	SOS2	6655	HP:0000391	Thickened helices
OMIM:613706	SOS2	6655	HP:0001249	Intellectual disability
OMIM:613706	SOS2	6655	HP:0000268	Dolichocephaly
OMIM:613706	SOS2	6655	HP:0000953	Hyperpigmentation of the skin
OMIM:613706	SOS2	6655	HP:0001642	Pulmonic stenosis
OMIM:613706	SOS2	6655	HP:0004322	Short stature
OMIM:613706	SOS2	6655	HP:0000006	Autosomal dominant inheritance
OMIM:613706	SOS2	6655	HP:0011220	Prominent forehead
OMIM:114300	PIEZO2	63895	HP:0001845	Overlapping toe
OMIM:114300	PIEZO2	63895	HP:0006380	Knee flexion contracture
OMIM:114300	PIEZO2	63895	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:114300	PIEZO2	63895	HP:0001374	Congenital hip dislocation
OMIM:114300	PIEZO2	63895	HP:0001762	Talipes equinovarus
OMIM:114300	PIEZO2	63895	HP:0000767	Pectus excavatum
OMIM:114300	PIEZO2	63895	HP:0001547	Abnormality of the rib cage
OMIM:114300	PIEZO2	63895	HP:0000193	Bifid uvula
OMIM:114300	PIEZO2	63895	HP:0000324	Facial asymmetry
OMIM:114300	PIEZO2	63895	HP:0002944	Thoracolumbar scoliosis
OMIM:114300	PIEZO2	63895	HP:0010554	Cutaneous finger syndactyly
OMIM:114300	PIEZO2	63895	HP:0000602	Ophthalmoplegia
OMIM:114300	PIEZO2	63895	HP:0200021	Down-sloping shoulders
OMIM:114300	PIEZO2	63895	HP:0002650	Scoliosis
OMIM:114300	PIEZO2	63895	HP:0000286	Epicanthus
OMIM:114300	PIEZO2	63895	HP:0000347	Micrognathia
OMIM:114300	PIEZO2	63895	HP:0001376	Limitation of joint mobility
OMIM:114300	PIEZO2	63895	HP:0006101	Finger syndactyly
OMIM:114300	PIEZO2	63895	HP:0000175	Cleft palate
OMIM:114300	PIEZO2	63895	HP:0009803	Short phalanx of finger
OMIM:114300	PIEZO2	63895	HP:0000470	Short neck
OMIM:114300	PIEZO2	63895	HP:0000176	Submucous cleft hard palate
OMIM:114300	PIEZO2	63895	HP:0000028	Cryptorchidism
OMIM:114300	PIEZO2	63895	HP:0002938	Lumbar hyperlordosis
OMIM:114300	PIEZO2	63895	HP:0000365	Hearing impairment
OMIM:114300	PIEZO2	63895	HP:0000006	Autosomal dominant inheritance
OMIM:114300	PIEZO2	63895	HP:0002751	Kyphoscoliosis
OMIM:114300	PIEZO2	63895	HP:0004209	Clinodactyly of the 5th finger
OMIM:114300	PIEZO2	63895	HP:0004322	Short stature
OMIM:114300	PIEZO2	63895	HP:0100490	Camptodactyly of finger
OMIM:114300	PIEZO2	63895	HP:0000218	High palate
OMIM:114300	PIEZO2	63895	HP:0002804	Arthrogryposis multiplex congenita
OMIM:114300	PIEZO2	63895	HP:0003202	Skeletal muscle atrophy
OMIM:114300	PIEZO2	63895	HP:0000508	Ptosis
OMIM:114300	PIEZO2	63895	HP:0000954	Single transverse palmar crease
OMIM:114300	PIEZO2	63895	HP:0001883	Talipes
OMIM:616094	POMK	84197	HP:0100543	Cognitive impairment
OMIM:616094	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616094	POMK	84197	HP:0001265	Hyporeflexia
OMIM:616094	POMK	84197	HP:0001319	Neonatal hypotonia
OMIM:616094	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:616094	POMK	84197	HP:0003391	Gowers sign
OMIM:616094	POMK	84197	HP:0001270	Motor delay
OMIM:614023	PSPH	5723	HP:0000252	Microcephaly
OMIM:614023	PSPH	5723	HP:0002059	Cerebral atrophy
OMIM:614023	PSPH	5723	HP:0001276	Hypertonia
OMIM:614023	PSPH	5723	HP:0000007	Autosomal recessive inheritance
OMIM:614023	PSPH	5723	HP:0001511	Intrauterine growth retardation
OMIM:614023	PSPH	5723	HP:0008897	Postnatal growth retardation
OMIM:614023	PSPH	5723	HP:0001263	Global developmental delay
OMIM:614023	PSPH	5723	HP:0001249	Intellectual disability
OMIM:614023	PSPH	5723	HP:0001250	Seizures
OMIM:615716	PIGO	84720	HP:0000175	Cleft palate
OMIM:615716	PIGO	84720	HP:0000219	Thin upper lip vermilion
OMIM:615716	PIGO	84720	HP:0010804	Tented upper lip vermilion
OMIM:615716	PIGO	84720	HP:0000431	Wide nasal bridge
OMIM:615716	PIGO	84720	HP:0000252	Microcephaly
OMIM:615716	PIGO	84720	HP:0000316	Hypertelorism
OMIM:615716	PIGO	84720	HP:0001250	Seizures
OMIM:615716	PIGO	84720	HP:0000582	Upslanted palpebral fissure
OMIM:615716	PIGO	84720	HP:0001252	Muscular hypotonia
OMIM:615716	PIGO	84720	HP:0002540	Inability to walk
OMIM:615716	PIGO	84720	HP:0001249	Intellectual disability
OMIM:615716	PIGO	84720	HP:0000455	Broad nasal tip
OMIM:615716	PIGO	84720	HP:0001263	Global developmental delay
OMIM:615716	PIGO	84720	HP:0001510	Growth delay
OMIM:615716	PIGO	84720	HP:0004305	Involuntary movements
OMIM:615716	PIGV	55650	HP:0000175	Cleft palate
OMIM:615716	PIGV	55650	HP:0000219	Thin upper lip vermilion
OMIM:615716	PIGV	55650	HP:0010804	Tented upper lip vermilion
OMIM:615716	PIGV	55650	HP:0000431	Wide nasal bridge
OMIM:615716	PIGV	55650	HP:0000252	Microcephaly
OMIM:615716	PIGV	55650	HP:0000316	Hypertelorism
OMIM:615716	PIGV	55650	HP:0001250	Seizures
OMIM:615716	PIGV	55650	HP:0000582	Upslanted palpebral fissure
OMIM:615716	PIGV	55650	HP:0001252	Muscular hypotonia
OMIM:615716	PIGV	55650	HP:0002540	Inability to walk
OMIM:615716	PIGV	55650	HP:0001249	Intellectual disability
OMIM:615716	PIGV	55650	HP:0000455	Broad nasal tip
OMIM:615716	PIGV	55650	HP:0001263	Global developmental delay
OMIM:615716	PIGV	55650	HP:0001510	Growth delay
OMIM:615716	PIGV	55650	HP:0004305	Involuntary movements
OMIM:615716	PGAP2	27315	HP:0000175	Cleft palate
OMIM:615716	PGAP2	27315	HP:0000219	Thin upper lip vermilion
OMIM:615716	PGAP2	27315	HP:0010804	Tented upper lip vermilion
OMIM:615716	PGAP2	27315	HP:0000431	Wide nasal bridge
OMIM:615716	PGAP2	27315	HP:0000252	Microcephaly
OMIM:615716	PGAP2	27315	HP:0000316	Hypertelorism
OMIM:615716	PGAP2	27315	HP:0001250	Seizures
OMIM:615716	PGAP2	27315	HP:0000582	Upslanted palpebral fissure
OMIM:615716	PGAP2	27315	HP:0001252	Muscular hypotonia
OMIM:615716	PGAP2	27315	HP:0002540	Inability to walk
OMIM:615716	PGAP2	27315	HP:0001249	Intellectual disability
OMIM:615716	PGAP2	27315	HP:0000455	Broad nasal tip
OMIM:615716	PGAP2	27315	HP:0001263	Global developmental delay
OMIM:615716	PGAP2	27315	HP:0001510	Growth delay
OMIM:615716	PGAP2	27315	HP:0004305	Involuntary movements
OMIM:615716	PIGW	284098	HP:0000175	Cleft palate
OMIM:615716	PIGW	284098	HP:0000219	Thin upper lip vermilion
OMIM:615716	PIGW	284098	HP:0010804	Tented upper lip vermilion
OMIM:615716	PIGW	284098	HP:0000431	Wide nasal bridge
OMIM:615716	PIGW	284098	HP:0000252	Microcephaly
OMIM:615716	PIGW	284098	HP:0000316	Hypertelorism
OMIM:615716	PIGW	284098	HP:0001250	Seizures
OMIM:615716	PIGW	284098	HP:0000582	Upslanted palpebral fissure
OMIM:615716	PIGW	284098	HP:0001252	Muscular hypotonia
OMIM:615716	PIGW	284098	HP:0002540	Inability to walk
OMIM:615716	PIGW	284098	HP:0001249	Intellectual disability
OMIM:615716	PIGW	284098	HP:0000455	Broad nasal tip
OMIM:615716	PIGW	284098	HP:0001263	Global developmental delay
OMIM:615716	PIGW	284098	HP:0001510	Growth delay
OMIM:615716	PIGW	284098	HP:0004305	Involuntary movements
OMIM:615716	PGAP3	93210	HP:0000175	Cleft palate
OMIM:615716	PGAP3	93210	HP:0000219	Thin upper lip vermilion
OMIM:615716	PGAP3	93210	HP:0010804	Tented upper lip vermilion
OMIM:615716	PGAP3	93210	HP:0000431	Wide nasal bridge
OMIM:615716	PGAP3	93210	HP:0000252	Microcephaly
OMIM:615716	PGAP3	93210	HP:0000316	Hypertelorism
OMIM:615716	PGAP3	93210	HP:0001250	Seizures
OMIM:615716	PGAP3	93210	HP:0000582	Upslanted palpebral fissure
OMIM:615716	PGAP3	93210	HP:0001252	Muscular hypotonia
OMIM:615716	PGAP3	93210	HP:0002540	Inability to walk
OMIM:615716	PGAP3	93210	HP:0001249	Intellectual disability
OMIM:615716	PGAP3	93210	HP:0000455	Broad nasal tip
OMIM:615716	PGAP3	93210	HP:0001263	Global developmental delay
OMIM:615716	PGAP3	93210	HP:0001510	Growth delay
OMIM:615716	PGAP3	93210	HP:0004305	Involuntary movements
OMIM:615716	PIGL	9487	HP:0000175	Cleft palate
OMIM:615716	PIGL	9487	HP:0000219	Thin upper lip vermilion
OMIM:615716	PIGL	9487	HP:0010804	Tented upper lip vermilion
OMIM:615716	PIGL	9487	HP:0000431	Wide nasal bridge
OMIM:615716	PIGL	9487	HP:0000252	Microcephaly
OMIM:615716	PIGL	9487	HP:0000316	Hypertelorism
OMIM:615716	PIGL	9487	HP:0001250	Seizures
OMIM:615716	PIGL	9487	HP:0000582	Upslanted palpebral fissure
OMIM:615716	PIGL	9487	HP:0001252	Muscular hypotonia
OMIM:615716	PIGL	9487	HP:0002540	Inability to walk
OMIM:615716	PIGL	9487	HP:0001249	Intellectual disability
OMIM:615716	PIGL	9487	HP:0000455	Broad nasal tip
OMIM:615716	PIGL	9487	HP:0001263	Global developmental delay
OMIM:615716	PIGL	9487	HP:0001510	Growth delay
OMIM:615716	PIGL	9487	HP:0004305	Involuntary movements
OMIM:201910	CYP21A2	1589	HP:0000007	Autosomal recessive inheritance
OMIM:201910	CYP21A2	1589	HP:0000765	Abnormality of the thorax
OMIM:201910	CYP21A2	1589	HP:0001945	Fever
OMIM:201910	CYP21A2	1589	HP:0000047	Hypospadias
OMIM:201910	CYP21A2	1589	HP:0001943	Hypoglycemia
OMIM:201910	CYP21A2	1589	HP:0000822	Hypertension
OMIM:201910	CYP21A2	1589	HP:0001507	Growth abnormality
OMIM:201910	CYP21A2	1589	HP:0008221	Adrenal hyperplasia
OMIM:616219	TUBB2B	347733	HP:0000508	Ptosis
OMIM:616219	PHOX2A	401	HP:0000508	Ptosis
OMIM:616219	KIF21A	55605	HP:0000508	Ptosis
OMIM:616219	COL25A1	84570	HP:0000508	Ptosis
OMIM:616219	TUBB3	10381	HP:0000508	Ptosis
OMIM:614608	ARID1A	8289	HP:0000527	Long eyelashes
OMIM:614608	ARID1A	8289	HP:0011968	Feeding difficulties
OMIM:614608	ARID1A	8289	HP:0000006	Autosomal dominant inheritance
OMIM:614608	ARID1A	8289	HP:0001321	Cerebellar hypoplasia
OMIM:614608	ARID1A	8289	HP:0001249	Intellectual disability
OMIM:614608	ARID1A	8289	HP:0000574	Thick eyebrow
OMIM:614608	ARID1A	8289	HP:0001250	Seizures
OMIM:614608	ARID1A	8289	HP:0000696	Delayed eruption of permanent teeth
OMIM:614608	ARID1A	8289	HP:0001007	Hirsutism
OMIM:614608	ARID1A	8289	HP:0008070	Sparse hair
OMIM:614608	ARID1A	8289	HP:0000252	Microcephaly
OMIM:614608	ARID1B	57492	HP:0000527	Long eyelashes
OMIM:614608	ARID1B	57492	HP:0011968	Feeding difficulties
OMIM:614608	ARID1B	57492	HP:0000006	Autosomal dominant inheritance
OMIM:614608	ARID1B	57492	HP:0001321	Cerebellar hypoplasia
OMIM:614608	ARID1B	57492	HP:0001249	Intellectual disability
OMIM:614608	ARID1B	57492	HP:0000574	Thick eyebrow
OMIM:614608	ARID1B	57492	HP:0001250	Seizures
OMIM:614608	ARID1B	57492	HP:0000696	Delayed eruption of permanent teeth
OMIM:614608	ARID1B	57492	HP:0001007	Hirsutism
OMIM:614608	ARID1B	57492	HP:0008070	Sparse hair
OMIM:614608	ARID1B	57492	HP:0000252	Microcephaly
OMIM:614608	SMARCA4	6597	HP:0000527	Long eyelashes
OMIM:614608	SMARCA4	6597	HP:0011968	Feeding difficulties
OMIM:614608	SMARCA4	6597	HP:0000006	Autosomal dominant inheritance
OMIM:614608	SMARCA4	6597	HP:0001321	Cerebellar hypoplasia
OMIM:614608	SMARCA4	6597	HP:0001249	Intellectual disability
OMIM:614608	SMARCA4	6597	HP:0000574	Thick eyebrow
OMIM:614608	SMARCA4	6597	HP:0001250	Seizures
OMIM:614608	SMARCA4	6597	HP:0000696	Delayed eruption of permanent teeth
OMIM:614608	SMARCA4	6597	HP:0001007	Hirsutism
OMIM:614608	SMARCA4	6597	HP:0008070	Sparse hair
OMIM:614608	SMARCA4	6597	HP:0000252	Microcephaly
OMIM:614608	SMARCB1	6598	HP:0000527	Long eyelashes
OMIM:614608	SMARCB1	6598	HP:0011968	Feeding difficulties
OMIM:614608	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
OMIM:614608	SMARCB1	6598	HP:0001321	Cerebellar hypoplasia
OMIM:614608	SMARCB1	6598	HP:0001249	Intellectual disability
OMIM:614608	SMARCB1	6598	HP:0000574	Thick eyebrow
OMIM:614608	SMARCB1	6598	HP:0001250	Seizures
OMIM:614608	SMARCB1	6598	HP:0000696	Delayed eruption of permanent teeth
OMIM:614608	SMARCB1	6598	HP:0001007	Hirsutism
OMIM:614608	SMARCB1	6598	HP:0008070	Sparse hair
OMIM:614608	SMARCB1	6598	HP:0000252	Microcephaly
OMIM:614608	SOX11	6664	HP:0000527	Long eyelashes
OMIM:614608	SOX11	6664	HP:0011968	Feeding difficulties
OMIM:614608	SOX11	6664	HP:0000006	Autosomal dominant inheritance
OMIM:614608	SOX11	6664	HP:0001321	Cerebellar hypoplasia
OMIM:614608	SOX11	6664	HP:0001249	Intellectual disability
OMIM:614608	SOX11	6664	HP:0000574	Thick eyebrow
OMIM:614608	SOX11	6664	HP:0001250	Seizures
OMIM:614608	SOX11	6664	HP:0000696	Delayed eruption of permanent teeth
OMIM:614608	SOX11	6664	HP:0001007	Hirsutism
OMIM:614608	SOX11	6664	HP:0008070	Sparse hair
OMIM:614608	SOX11	6664	HP:0000252	Microcephaly
OMIM:614608	SMARCE1	6605	HP:0000527	Long eyelashes
OMIM:614608	SMARCE1	6605	HP:0011968	Feeding difficulties
OMIM:614608	SMARCE1	6605	HP:0000006	Autosomal dominant inheritance
OMIM:614608	SMARCE1	6605	HP:0001321	Cerebellar hypoplasia
OMIM:614608	SMARCE1	6605	HP:0001249	Intellectual disability
OMIM:614608	SMARCE1	6605	HP:0000574	Thick eyebrow
OMIM:614608	SMARCE1	6605	HP:0001250	Seizures
OMIM:614608	SMARCE1	6605	HP:0000696	Delayed eruption of permanent teeth
OMIM:614608	SMARCE1	6605	HP:0001007	Hirsutism
OMIM:614608	SMARCE1	6605	HP:0008070	Sparse hair
OMIM:614608	SMARCE1	6605	HP:0000252	Microcephaly
OMIM:141500	SCN1A	6323	HP:0002367	Visual hallucinations
OMIM:141500	SCN1A	6323	HP:0000739	Anxiety
OMIM:141500	SCN1A	6323	HP:0000639	Nystagmus
OMIM:141500	SCN1A	6323	HP:0002357	Dysphasia
OMIM:141500	SCN1A	6323	HP:0000713	Agitation
OMIM:141500	SCN1A	6323	HP:0000709	Psychosis
OMIM:141500	SCN1A	6323	HP:0001259	Coma
OMIM:141500	SCN1A	6323	HP:0001251	Ataxia
OMIM:141500	SCN1A	6323	HP:0001337	Tremor
OMIM:141500	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:141500	SCN1A	6323	HP:0001425	Heterogeneous
OMIM:141500	SCN1A	6323	HP:0001250	Seizures
OMIM:141500	SCN1A	6323	HP:0001272	Cerebellar atrophy
OMIM:141500	SCN1A	6323	HP:0001945	Fever
OMIM:141500	CACNA1A	773	HP:0002367	Visual hallucinations
OMIM:141500	CACNA1A	773	HP:0000739	Anxiety
OMIM:141500	CACNA1A	773	HP:0000639	Nystagmus
OMIM:141500	CACNA1A	773	HP:0002357	Dysphasia
OMIM:141500	CACNA1A	773	HP:0000713	Agitation
OMIM:141500	CACNA1A	773	HP:0000709	Psychosis
OMIM:141500	CACNA1A	773	HP:0001259	Coma
OMIM:141500	CACNA1A	773	HP:0001251	Ataxia
OMIM:141500	CACNA1A	773	HP:0001337	Tremor
OMIM:141500	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:141500	CACNA1A	773	HP:0001425	Heterogeneous
OMIM:141500	CACNA1A	773	HP:0001250	Seizures
OMIM:141500	CACNA1A	773	HP:0001272	Cerebellar atrophy
OMIM:141500	CACNA1A	773	HP:0001945	Fever
OMIM:141500	ATP1A2	477	HP:0002367	Visual hallucinations
OMIM:141500	ATP1A2	477	HP:0000739	Anxiety
OMIM:141500	ATP1A2	477	HP:0000639	Nystagmus
OMIM:141500	ATP1A2	477	HP:0002357	Dysphasia
OMIM:141500	ATP1A2	477	HP:0000713	Agitation
OMIM:141500	ATP1A2	477	HP:0000709	Psychosis
OMIM:141500	ATP1A2	477	HP:0001259	Coma
OMIM:141500	ATP1A2	477	HP:0001251	Ataxia
OMIM:141500	ATP1A2	477	HP:0001337	Tremor
OMIM:141500	ATP1A2	477	HP:0000006	Autosomal dominant inheritance
OMIM:141500	ATP1A2	477	HP:0001425	Heterogeneous
OMIM:141500	ATP1A2	477	HP:0001250	Seizures
OMIM:141500	ATP1A2	477	HP:0001272	Cerebellar atrophy
OMIM:141500	ATP1A2	477	HP:0001945	Fever
OMIM:141500	PRRT2	112476	HP:0002367	Visual hallucinations
OMIM:141500	PRRT2	112476	HP:0000739	Anxiety
OMIM:141500	PRRT2	112476	HP:0000639	Nystagmus
OMIM:141500	PRRT2	112476	HP:0002357	Dysphasia
OMIM:141500	PRRT2	112476	HP:0000713	Agitation
OMIM:141500	PRRT2	112476	HP:0000709	Psychosis
OMIM:141500	PRRT2	112476	HP:0001259	Coma
OMIM:141500	PRRT2	112476	HP:0001251	Ataxia
OMIM:141500	PRRT2	112476	HP:0001337	Tremor
OMIM:141500	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:141500	PRRT2	112476	HP:0001425	Heterogeneous
OMIM:141500	PRRT2	112476	HP:0001250	Seizures
OMIM:141500	PRRT2	112476	HP:0001272	Cerebellar atrophy
OMIM:141500	PRRT2	112476	HP:0001945	Fever
OMIM:610717	PNPLA2	57104	HP:0003701	Proximal muscle weakness
OMIM:610717	PNPLA2	57104	HP:0001397	Hepatic steatosis
OMIM:610717	PNPLA2	57104	HP:0002155	Hypertriglyceridemia
OMIM:610717	PNPLA2	57104	HP:0001284	Areflexia
OMIM:610717	PNPLA2	57104	HP:0003546	Exercise intolerance
OMIM:610717	PNPLA2	57104	HP:0000467	Neck muscle weakness
OMIM:610717	PNPLA2	57104	HP:0003326	Myalgia
OMIM:610717	PNPLA2	57104	HP:0000407	Sensorineural hearing impairment
OMIM:610717	PNPLA2	57104	HP:0002380	Fasciculations
OMIM:610717	PNPLA2	57104	HP:0003198	Myopathy
OMIM:610717	PNPLA2	57104	HP:0003677	Slow progression
OMIM:610717	PNPLA2	57104	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610717	PNPLA2	57104	HP:0003581	Adult onset
OMIM:610717	PNPLA2	57104	HP:0002355	Difficulty walking
OMIM:610717	PNPLA2	57104	HP:0003828	Variable expressivity
OMIM:610717	PNPLA2	57104	HP:0001252	Muscular hypotonia
OMIM:610717	PNPLA2	57104	HP:0001638	Cardiomyopathy
OMIM:610717	PNPLA2	57104	HP:0002240	Hepatomegaly
OMIM:610717	PNPLA2	57104	HP:0003391	Gowers sign
OMIM:610717	PNPLA2	57104	HP:0004322	Short stature
OMIM:610717	PNPLA2	57104	HP:0002910	Elevated hepatic transaminases
OMIM:610717	PNPLA2	57104	HP:0000819	Diabetes mellitus
OMIM:610717	PNPLA2	57104	HP:0000007	Autosomal recessive inheritance
OMIM:130000	COL5A1	1289	HP:0005222	Bowel diverticulosis
OMIM:130000	COL5A1	1289	HP:0001537	Umbilical hernia
OMIM:130000	COL5A1	1289	HP:0000023	Inguinal hernia
OMIM:130000	COL5A1	1289	HP:0001634	Mitral valve prolapse
OMIM:130000	COL5A1	1289	HP:0001763	Pes planus
OMIM:130000	COL5A1	1289	HP:0000015	Bladder diverticulum
OMIM:130000	COL5A1	1289	HP:0001822	Hallux valgus
OMIM:130000	COL5A1	1289	HP:0000163	Abnormality of the oral cavity
OMIM:130000	COL5A1	1289	HP:0001633	Abnormality of the mitral valve
OMIM:130000	COL5A1	1289	HP:0002816	Genu recurvatum
OMIM:130000	COL5A1	1289	HP:0000010	Recurrent urinary tract infections
OMIM:130000	COL5A1	1289	HP:0000545	Myopia
OMIM:130000	COL5A1	1289	HP:0002758	Osteoarthritis
OMIM:130000	COL5A1	1289	HP:0005293	Venous insufficiency
OMIM:130000	COL5A1	1289	HP:0000592	Blue sclerae
OMIM:130000	COL5A1	1289	HP:0001083	Ectopia lentis
OMIM:130000	COL5A1	1289	HP:0000768	Pectus carinatum
OMIM:130000	COL5A1	1289	HP:0000776	Congenital diaphragmatic hernia
OMIM:130000	COL5A1	1289	HP:0001373	Joint dislocation
OMIM:130000	COL5A1	1289	HP:0000822	Hypertension
OMIM:130000	COL5A1	1289	HP:0008069	Neoplasm of the skin
OMIM:130000	COL5A1	1289	HP:0002650	Scoliosis
OMIM:130000	COL5A1	1289	HP:0001382	Joint hypermobility
OMIM:130000	COL5A1	1289	HP:0000767	Pectus excavatum
OMIM:130000	COL5A1	1289	HP:0001724	Aortic dilatation
OMIM:130000	COL5A1	1289	HP:0000963	Thin skin
OMIM:130000	COL5A1	1289	HP:0000006	Autosomal dominant inheritance
OMIM:130000	COL5A1	1289	HP:0000286	Epicanthus
OMIM:130000	COL5A1	1289	HP:0000978	Bruising susceptibility
OMIM:130000	COL5A1	1289	HP:0001030	Fragile skin
OMIM:130000	COL5A1	1289	HP:0000977	Soft skin
OMIM:130000	COL5A1	1289	HP:0000541	Retinal detachment
OMIM:130000	COL5A1	1289	HP:0004322	Short stature
OMIM:130000	COL5A2	1290	HP:0005222	Bowel diverticulosis
OMIM:130000	COL5A2	1290	HP:0001537	Umbilical hernia
OMIM:130000	COL5A2	1290	HP:0000023	Inguinal hernia
OMIM:130000	COL5A2	1290	HP:0001634	Mitral valve prolapse
OMIM:130000	COL5A2	1290	HP:0001763	Pes planus
OMIM:130000	COL5A2	1290	HP:0000015	Bladder diverticulum
OMIM:130000	COL5A2	1290	HP:0001822	Hallux valgus
OMIM:130000	COL5A2	1290	HP:0000163	Abnormality of the oral cavity
OMIM:130000	COL5A2	1290	HP:0001633	Abnormality of the mitral valve
OMIM:130000	COL5A2	1290	HP:0002816	Genu recurvatum
OMIM:130000	COL5A2	1290	HP:0000010	Recurrent urinary tract infections
OMIM:130000	COL5A2	1290	HP:0000545	Myopia
OMIM:130000	COL5A2	1290	HP:0002758	Osteoarthritis
OMIM:130000	COL5A2	1290	HP:0005293	Venous insufficiency
OMIM:130000	COL5A2	1290	HP:0000592	Blue sclerae
OMIM:130000	COL5A2	1290	HP:0001083	Ectopia lentis
OMIM:130000	COL5A2	1290	HP:0000768	Pectus carinatum
OMIM:130000	COL5A2	1290	HP:0000776	Congenital diaphragmatic hernia
OMIM:130000	COL5A2	1290	HP:0001373	Joint dislocation
OMIM:130000	COL5A2	1290	HP:0000822	Hypertension
OMIM:130000	COL5A2	1290	HP:0008069	Neoplasm of the skin
OMIM:130000	COL5A2	1290	HP:0002650	Scoliosis
OMIM:130000	COL5A2	1290	HP:0001382	Joint hypermobility
OMIM:130000	COL5A2	1290	HP:0000767	Pectus excavatum
OMIM:130000	COL5A2	1290	HP:0001724	Aortic dilatation
OMIM:130000	COL5A2	1290	HP:0000963	Thin skin
OMIM:130000	COL5A2	1290	HP:0000006	Autosomal dominant inheritance
OMIM:130000	COL5A2	1290	HP:0000286	Epicanthus
OMIM:130000	COL5A2	1290	HP:0000978	Bruising susceptibility
OMIM:130000	COL5A2	1290	HP:0001030	Fragile skin
OMIM:130000	COL5A2	1290	HP:0000977	Soft skin
OMIM:130000	COL5A2	1290	HP:0000541	Retinal detachment
OMIM:130000	COL5A2	1290	HP:0004322	Short stature
OMIM:130000	COL1A1	1277	HP:0005222	Bowel diverticulosis
OMIM:130000	COL1A1	1277	HP:0001537	Umbilical hernia
OMIM:130000	COL1A1	1277	HP:0000023	Inguinal hernia
OMIM:130000	COL1A1	1277	HP:0001634	Mitral valve prolapse
OMIM:130000	COL1A1	1277	HP:0001763	Pes planus
OMIM:130000	COL1A1	1277	HP:0000015	Bladder diverticulum
OMIM:130000	COL1A1	1277	HP:0001822	Hallux valgus
OMIM:130000	COL1A1	1277	HP:0000163	Abnormality of the oral cavity
OMIM:130000	COL1A1	1277	HP:0001633	Abnormality of the mitral valve
OMIM:130000	COL1A1	1277	HP:0002816	Genu recurvatum
OMIM:130000	COL1A1	1277	HP:0000010	Recurrent urinary tract infections
OMIM:130000	COL1A1	1277	HP:0000545	Myopia
OMIM:130000	COL1A1	1277	HP:0002758	Osteoarthritis
OMIM:130000	COL1A1	1277	HP:0005293	Venous insufficiency
OMIM:130000	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:130000	COL1A1	1277	HP:0001083	Ectopia lentis
OMIM:130000	COL1A1	1277	HP:0000768	Pectus carinatum
OMIM:130000	COL1A1	1277	HP:0000776	Congenital diaphragmatic hernia
OMIM:130000	COL1A1	1277	HP:0001373	Joint dislocation
OMIM:130000	COL1A1	1277	HP:0000822	Hypertension
OMIM:130000	COL1A1	1277	HP:0008069	Neoplasm of the skin
OMIM:130000	COL1A1	1277	HP:0002650	Scoliosis
OMIM:130000	COL1A1	1277	HP:0001382	Joint hypermobility
OMIM:130000	COL1A1	1277	HP:0000767	Pectus excavatum
OMIM:130000	COL1A1	1277	HP:0001724	Aortic dilatation
OMIM:130000	COL1A1	1277	HP:0000963	Thin skin
OMIM:130000	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:130000	COL1A1	1277	HP:0000286	Epicanthus
OMIM:130000	COL1A1	1277	HP:0000978	Bruising susceptibility
OMIM:130000	COL1A1	1277	HP:0001030	Fragile skin
OMIM:130000	COL1A1	1277	HP:0000977	Soft skin
OMIM:130000	COL1A1	1277	HP:0000541	Retinal detachment
OMIM:130000	COL1A1	1277	HP:0004322	Short stature
OMIM:271150	SMN1	6606	HP:0003677	Slow progression
OMIM:271150	SMN1	6606	HP:0003581	Adult onset
OMIM:271150	SMN1	6606	HP:0002398	Degeneration of anterior horn cells
OMIM:271150	SMN1	6606	HP:0000007	Autosomal recessive inheritance
OMIM:271150	SMN1	6606	HP:0003701	Proximal muscle weakness
OMIM:271150	SMN1	6606	HP:0007269	Spinal muscular atrophy
OMIM:271150	SMN1	6606	HP:0001308	Tongue fasciculations
OMIM:271150	SMN1	6606	HP:0003445	EMG: neuropathic changes
OMIM:271150	SMN1	6606	HP:0007126	Proximal amyotrophy
OMIM:271150	SMN2	6607	HP:0003677	Slow progression
OMIM:271150	SMN2	6607	HP:0003581	Adult onset
OMIM:271150	SMN2	6607	HP:0002398	Degeneration of anterior horn cells
OMIM:271150	SMN2	6607	HP:0000007	Autosomal recessive inheritance
OMIM:271150	SMN2	6607	HP:0003701	Proximal muscle weakness
OMIM:271150	SMN2	6607	HP:0007269	Spinal muscular atrophy
OMIM:271150	SMN2	6607	HP:0001308	Tongue fasciculations
OMIM:271150	SMN2	6607	HP:0003445	EMG: neuropathic changes
OMIM:271150	SMN2	6607	HP:0007126	Proximal amyotrophy
OMIM:246200	INSR	3643	HP:0000400	Macrotia
OMIM:246200	INSR	3643	HP:0004325	Decreased body weight
OMIM:246200	INSR	3643	HP:0000364	Hearing abnormality
OMIM:246200	INSR	3643	HP:0008887	Adipose tissue loss
OMIM:246200	INSR	3643	HP:0001999	Abnormal facial shape
OMIM:246200	INSR	3643	HP:0001395	Hepatic fibrosis
OMIM:246200	INSR	3643	HP:0001537	Umbilical hernia
OMIM:246200	INSR	3643	HP:0002164	Nail dysplasia
OMIM:246200	INSR	3643	HP:0004428	Elfin facies
OMIM:246200	INSR	3643	HP:0000520	Proptosis
OMIM:246200	INSR	3643	HP:0100543	Cognitive impairment
OMIM:246200	INSR	3643	HP:0000998	Hypertrichosis
OMIM:246200	INSR	3643	HP:0000007	Autosomal recessive inheritance
OMIM:246200	INSR	3643	HP:0005280	Depressed nasal bridge
OMIM:246200	INSR	3643	HP:0002750	Delayed skeletal maturation
OMIM:246200	INSR	3643	HP:0001392	Abnormality of the liver
OMIM:246200	INSR	3643	HP:0001943	Hypoglycemia
OMIM:246200	INSR	3643	HP:0002719	Recurrent infections
OMIM:246200	INSR	3643	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:246200	INSR	3643	HP:0000962	Hyperkeratosis
OMIM:246200	INSR	3643	HP:0000369	Low-set ears
OMIM:246200	INSR	3643	HP:0000274	Small face
OMIM:246200	INSR	3643	HP:0000179	Thick lower lip vermilion
OMIM:246200	INSR	3643	HP:0003202	Skeletal muscle atrophy
OMIM:246200	INSR	3643	HP:0000174	Abnormality of the palate
OMIM:246200	INSR	3643	HP:0000956	Acanthosis nigricans
OMIM:246200	INSR	3643	HP:0002205	Recurrent respiratory infections
OMIM:246200	INSR	3643	HP:0100578	Lipoatrophy
OMIM:246200	INSR	3643	HP:0001396	Cholestasis
OMIM:246200	INSR	3643	HP:0000040	Long penis
OMIM:246200	INSR	3643	HP:0000429	Abnormality of the nasal alae
OMIM:246200	INSR	3643	HP:0003074	Hyperglycemia
OMIM:246200	INSR	3643	HP:0008897	Postnatal growth retardation
OMIM:246200	INSR	3643	HP:0000316	Hypertelorism
OMIM:246200	INSR	3643	HP:0000252	Microcephaly
OMIM:246200	INSR	3643	HP:0003270	Abdominal distention
OMIM:246200	INSR	3643	HP:0000212	Gingival overgrowth
OMIM:246200	INSR	3643	HP:0004322	Short stature
OMIM:246200	INSR	3643	HP:0004298	Abnormality of the abdominal wall
OMIM:246200	INSR	3643	HP:0000028	Cryptorchidism
OMIM:246200	INSR	3643	HP:0000842	Hyperinsulinemia
OMIM:246200	INSR	3643	HP:0000368	Low-set, posteriorly rotated ears
OMIM:246200	INSR	3643	HP:0000154	Wide mouth
OMIM:246200	INSR	3643	HP:0001034	Hypermelanotic macule
OMIM:246200	INSR	3643	HP:0001833	Long foot
OMIM:246200	INSR	3643	HP:0010458	Female pseudohermaphroditism
OMIM:246200	INSR	3643	HP:0000057	Clitoromegaly
OMIM:246200	INSR	3643	HP:0001511	Intrauterine growth retardation
OMIM:246200	INSR	3643	HP:0005978	Type II diabetes mellitus
OMIM:246200	INSR	3643	HP:0008872	Feeding difficulties in infancy
OMIM:246200	INSR	3643	HP:0000474	Thickened nuchal skin fold
OMIM:246200	INSR	3643	HP:0000138	Ovarian cyst
OMIM:246200	INSR	3643	HP:0000826	Precocious puberty
OMIM:246200	INSR	3643	HP:0001176	Large hands
OMIM:162260	NF2	4771	HP:0007429	Few cafe-au-lait spots
OMIM:162260	NF2	4771	HP:0000006	Autosomal dominant inheritance
OMIM:162260	NF2	4771	HP:0002858	Meningioma
OMIM:162260	SMARCB1	6598	HP:0007429	Few cafe-au-lait spots
OMIM:162260	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
OMIM:162260	SMARCB1	6598	HP:0002858	Meningioma
OMIM:162260	LZTR1	8216	HP:0007429	Few cafe-au-lait spots
OMIM:162260	LZTR1	8216	HP:0000006	Autosomal dominant inheritance
OMIM:162260	LZTR1	8216	HP:0002858	Meningioma
OMIM:162260	COQ6	51004	HP:0007429	Few cafe-au-lait spots
OMIM:162260	COQ6	51004	HP:0000006	Autosomal dominant inheritance
OMIM:162260	COQ6	51004	HP:0002858	Meningioma
OMIM:219000	FRAS1	80144	HP:0000413	Atresia of the external auditory canal
OMIM:219000	FRAS1	80144	HP:0100543	Cognitive impairment
OMIM:219000	FRAS1	80144	HP:0100589	Urogenital fistula
OMIM:219000	FRAS1	80144	HP:0000204	Cleft upper lip
OMIM:219000	FRAS1	80144	HP:0007957	Corneal opacity
OMIM:219000	FRAS1	80144	HP:0002006	Facial cleft
OMIM:219000	FRAS1	80144	HP:0000252	Microcephaly
OMIM:219000	FRAS1	80144	HP:0000028	Cryptorchidism
OMIM:219000	FRAS1	80144	HP:0000377	Abnormality of the pinna
OMIM:219000	FRAS1	80144	HP:0001600	Abnormality of the larynx
OMIM:219000	FRAS1	80144	HP:0008678	Renal hypoplasia/aplasia
OMIM:219000	FRAS1	80144	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:219000	FRAS1	80144	HP:0000316	Hypertelorism
OMIM:219000	FRAS1	80144	HP:0001551	Abnormality of the umbilicus
OMIM:219000	FRAS1	80144	HP:0008609	Morphological abnormality of the middle ear
OMIM:219000	FRAS1	80144	HP:0000777	Abnormality of the thymus
OMIM:219000	FRAS1	80144	HP:0000430	Underdeveloped nasal alae
OMIM:219000	FRAS1	80144	HP:0000148	Vaginal atresia
OMIM:219000	FRAS1	80144	HP:0006714	Aplasia/Hypoplasia of the sternum
OMIM:219000	FRAS1	80144	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:219000	FRAS1	80144	HP:0001249	Intellectual disability
OMIM:219000	FRAS1	80144	HP:0000057	Clitoromegaly
OMIM:219000	FRAS1	80144	HP:0000632	Lacrimation abnormality
OMIM:219000	FRAS1	80144	HP:0000174	Abnormality of the palate
OMIM:219000	FRAS1	80144	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:219000	FRAS1	80144	HP:0004122	Midline defect of the nose
OMIM:219000	FRAS1	80144	HP:0000368	Low-set, posteriorly rotated ears
OMIM:219000	FRAS1	80144	HP:0003422	Vertebral segmentation defect
OMIM:219000	FRAS1	80144	HP:0002536	Abnormal cortical gyration
OMIM:219000	FRAS1	80144	HP:0000618	Blindness
OMIM:219000	FRAS1	80144	HP:0004378	Abnormality of the anus
OMIM:219000	FRAS1	80144	HP:0000054	Micropenis
OMIM:219000	FRAS1	80144	HP:0000089	Renal hypoplasia
OMIM:219000	FRAS1	80144	HP:0002089	Pulmonary hypoplasia
OMIM:219000	FRAS1	80144	HP:0100627	Displacement of the external urethral meatus
OMIM:219000	FRAS1	80144	HP:0006610	Wide intermamillary distance
OMIM:219000	FRAS1	80144	HP:0000175	Cleft palate
OMIM:219000	FRAS1	80144	HP:0002084	Encephalocele
OMIM:219000	FRAS1	80144	HP:0000378	Cupped ear
OMIM:219000	FRAS1	80144	HP:0000405	Conductive hearing impairment
OMIM:219000	FRAS1	80144	HP:0002101	Abnormal lung lobation
OMIM:219000	FRAS1	80144	HP:0000238	Hydrocephalus
OMIM:219000	FRAS1	80144	HP:0000142	Abnormality of the vagina
OMIM:219000	FRAS1	80144	HP:0001539	Omphalocele
OMIM:219000	FRAS1	80144	HP:0010554	Cutaneous finger syndactyly
OMIM:219000	FRAS1	80144	HP:0000813	Bicornuate uterus
OMIM:219000	FRAS1	80144	HP:0005280	Depressed nasal bridge
OMIM:219000	FRAS1	80144	HP:0000003	Multicystic kidney dysplasia
OMIM:219000	FRAS1	80144	HP:0001627	Abnormal heart morphology
OMIM:219000	FRAS1	80144	HP:0000505	Visual impairment
OMIM:219000	FRAS1	80144	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:219000	FRAS1	80144	HP:0010458	Female pseudohermaphroditism
OMIM:219000	FRAS1	80144	HP:0000452	Choanal stenosis
OMIM:219000	FRAS1	80144	HP:0004404	Abnormality of the nipple
OMIM:219000	FRAS1	80144	HP:0008050	Abnormality of the palpebral fissures
OMIM:219000	FRAS1	80144	HP:0000164	Abnormality of the teeth
OMIM:219000	FRAS1	80144	HP:0000183	Difficulty in tongue movements
OMIM:219000	FRAS1	80144	HP:0006101	Finger syndactyly
OMIM:219000	FRAS1	80144	HP:0000369	Low-set ears
OMIM:219000	FRAS1	80144	HP:0002244	Abnormality of the small intestine
OMIM:219000	FRAS1	80144	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:219000	FRAS1	80144	HP:0000046	Scrotal hypoplasia
OMIM:219000	FRAS1	80144	HP:0001537	Umbilical hernia
OMIM:219000	FRAS1	80144	HP:0000445	Wide nose
OMIM:219000	FRAS1	80144	HP:0002777	Tracheal stenosis
OMIM:219000	FRAS1	80144	HP:0000678	Dental crowding
OMIM:219000	FRAS1	80144	HP:0001770	Toe syndactyly
OMIM:219000	FRAS1	80144	HP:0000047	Hypospadias
OMIM:219000	FRAS1	80144	HP:0000062	Ambiguous genitalia
OMIM:219000	FRAS1	80144	HP:0000007	Autosomal recessive inheritance
OMIM:219000	FRAS1	80144	HP:0000528	Anophthalmia
OMIM:219000	FRAS1	80144	HP:0008736	Hypoplasia of penis
OMIM:219000	FRAS1	80144	HP:0000431	Wide nasal bridge
OMIM:219000	FRAS1	80144	HP:0000689	Dental malocclusion
OMIM:219000	GRIP1	23426	HP:0000413	Atresia of the external auditory canal
OMIM:219000	GRIP1	23426	HP:0100543	Cognitive impairment
OMIM:219000	GRIP1	23426	HP:0100589	Urogenital fistula
OMIM:219000	GRIP1	23426	HP:0000204	Cleft upper lip
OMIM:219000	GRIP1	23426	HP:0007957	Corneal opacity
OMIM:219000	GRIP1	23426	HP:0002006	Facial cleft
OMIM:219000	GRIP1	23426	HP:0000252	Microcephaly
OMIM:219000	GRIP1	23426	HP:0000028	Cryptorchidism
OMIM:219000	GRIP1	23426	HP:0000377	Abnormality of the pinna
OMIM:219000	GRIP1	23426	HP:0001600	Abnormality of the larynx
OMIM:219000	GRIP1	23426	HP:0008678	Renal hypoplasia/aplasia
OMIM:219000	GRIP1	23426	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:219000	GRIP1	23426	HP:0000316	Hypertelorism
OMIM:219000	GRIP1	23426	HP:0001551	Abnormality of the umbilicus
OMIM:219000	GRIP1	23426	HP:0008609	Morphological abnormality of the middle ear
OMIM:219000	GRIP1	23426	HP:0000777	Abnormality of the thymus
OMIM:219000	GRIP1	23426	HP:0000430	Underdeveloped nasal alae
OMIM:219000	GRIP1	23426	HP:0000148	Vaginal atresia
OMIM:219000	GRIP1	23426	HP:0006714	Aplasia/Hypoplasia of the sternum
OMIM:219000	GRIP1	23426	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:219000	GRIP1	23426	HP:0001249	Intellectual disability
OMIM:219000	GRIP1	23426	HP:0000057	Clitoromegaly
OMIM:219000	GRIP1	23426	HP:0000632	Lacrimation abnormality
OMIM:219000	GRIP1	23426	HP:0000174	Abnormality of the palate
OMIM:219000	GRIP1	23426	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:219000	GRIP1	23426	HP:0004122	Midline defect of the nose
OMIM:219000	GRIP1	23426	HP:0000368	Low-set, posteriorly rotated ears
OMIM:219000	GRIP1	23426	HP:0003422	Vertebral segmentation defect
OMIM:219000	GRIP1	23426	HP:0002536	Abnormal cortical gyration
OMIM:219000	GRIP1	23426	HP:0000618	Blindness
OMIM:219000	GRIP1	23426	HP:0004378	Abnormality of the anus
OMIM:219000	GRIP1	23426	HP:0000054	Micropenis
OMIM:219000	GRIP1	23426	HP:0000089	Renal hypoplasia
OMIM:219000	GRIP1	23426	HP:0002089	Pulmonary hypoplasia
OMIM:219000	GRIP1	23426	HP:0100627	Displacement of the external urethral meatus
OMIM:219000	GRIP1	23426	HP:0006610	Wide intermamillary distance
OMIM:219000	GRIP1	23426	HP:0000175	Cleft palate
OMIM:219000	GRIP1	23426	HP:0002084	Encephalocele
OMIM:219000	GRIP1	23426	HP:0000378	Cupped ear
OMIM:219000	GRIP1	23426	HP:0000405	Conductive hearing impairment
OMIM:219000	GRIP1	23426	HP:0002101	Abnormal lung lobation
OMIM:219000	GRIP1	23426	HP:0000238	Hydrocephalus
OMIM:219000	GRIP1	23426	HP:0000142	Abnormality of the vagina
OMIM:219000	GRIP1	23426	HP:0001539	Omphalocele
OMIM:219000	GRIP1	23426	HP:0010554	Cutaneous finger syndactyly
OMIM:219000	GRIP1	23426	HP:0000813	Bicornuate uterus
OMIM:219000	GRIP1	23426	HP:0005280	Depressed nasal bridge
OMIM:219000	GRIP1	23426	HP:0000003	Multicystic kidney dysplasia
OMIM:219000	GRIP1	23426	HP:0001627	Abnormal heart morphology
OMIM:219000	GRIP1	23426	HP:0000505	Visual impairment
OMIM:219000	GRIP1	23426	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:219000	GRIP1	23426	HP:0010458	Female pseudohermaphroditism
OMIM:219000	GRIP1	23426	HP:0000452	Choanal stenosis
OMIM:219000	GRIP1	23426	HP:0004404	Abnormality of the nipple
OMIM:219000	GRIP1	23426	HP:0008050	Abnormality of the palpebral fissures
OMIM:219000	GRIP1	23426	HP:0000164	Abnormality of the teeth
OMIM:219000	GRIP1	23426	HP:0000183	Difficulty in tongue movements
OMIM:219000	GRIP1	23426	HP:0006101	Finger syndactyly
OMIM:219000	GRIP1	23426	HP:0000369	Low-set ears
OMIM:219000	GRIP1	23426	HP:0002244	Abnormality of the small intestine
OMIM:219000	GRIP1	23426	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:219000	GRIP1	23426	HP:0000046	Scrotal hypoplasia
OMIM:219000	GRIP1	23426	HP:0001537	Umbilical hernia
OMIM:219000	GRIP1	23426	HP:0000445	Wide nose
OMIM:219000	GRIP1	23426	HP:0002777	Tracheal stenosis
OMIM:219000	GRIP1	23426	HP:0000678	Dental crowding
OMIM:219000	GRIP1	23426	HP:0001770	Toe syndactyly
OMIM:219000	GRIP1	23426	HP:0000047	Hypospadias
OMIM:219000	GRIP1	23426	HP:0000062	Ambiguous genitalia
OMIM:219000	GRIP1	23426	HP:0000007	Autosomal recessive inheritance
OMIM:219000	GRIP1	23426	HP:0000528	Anophthalmia
OMIM:219000	GRIP1	23426	HP:0008736	Hypoplasia of penis
OMIM:219000	GRIP1	23426	HP:0000431	Wide nasal bridge
OMIM:219000	GRIP1	23426	HP:0000689	Dental malocclusion
OMIM:219000	FREM2	341640	HP:0000413	Atresia of the external auditory canal
OMIM:219000	FREM2	341640	HP:0100543	Cognitive impairment
OMIM:219000	FREM2	341640	HP:0100589	Urogenital fistula
OMIM:219000	FREM2	341640	HP:0000204	Cleft upper lip
OMIM:219000	FREM2	341640	HP:0007957	Corneal opacity
OMIM:219000	FREM2	341640	HP:0002006	Facial cleft
OMIM:219000	FREM2	341640	HP:0000252	Microcephaly
OMIM:219000	FREM2	341640	HP:0000028	Cryptorchidism
OMIM:219000	FREM2	341640	HP:0000377	Abnormality of the pinna
OMIM:219000	FREM2	341640	HP:0001600	Abnormality of the larynx
OMIM:219000	FREM2	341640	HP:0008678	Renal hypoplasia/aplasia
OMIM:219000	FREM2	341640	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:219000	FREM2	341640	HP:0000316	Hypertelorism
OMIM:219000	FREM2	341640	HP:0001551	Abnormality of the umbilicus
OMIM:219000	FREM2	341640	HP:0008609	Morphological abnormality of the middle ear
OMIM:219000	FREM2	341640	HP:0000777	Abnormality of the thymus
OMIM:219000	FREM2	341640	HP:0000430	Underdeveloped nasal alae
OMIM:219000	FREM2	341640	HP:0000148	Vaginal atresia
OMIM:219000	FREM2	341640	HP:0006714	Aplasia/Hypoplasia of the sternum
OMIM:219000	FREM2	341640	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:219000	FREM2	341640	HP:0001249	Intellectual disability
OMIM:219000	FREM2	341640	HP:0000057	Clitoromegaly
OMIM:219000	FREM2	341640	HP:0000632	Lacrimation abnormality
OMIM:219000	FREM2	341640	HP:0000174	Abnormality of the palate
OMIM:219000	FREM2	341640	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:219000	FREM2	341640	HP:0004122	Midline defect of the nose
OMIM:219000	FREM2	341640	HP:0000368	Low-set, posteriorly rotated ears
OMIM:219000	FREM2	341640	HP:0003422	Vertebral segmentation defect
OMIM:219000	FREM2	341640	HP:0002536	Abnormal cortical gyration
OMIM:219000	FREM2	341640	HP:0000618	Blindness
OMIM:219000	FREM2	341640	HP:0004378	Abnormality of the anus
OMIM:219000	FREM2	341640	HP:0000054	Micropenis
OMIM:219000	FREM2	341640	HP:0000089	Renal hypoplasia
OMIM:219000	FREM2	341640	HP:0002089	Pulmonary hypoplasia
OMIM:219000	FREM2	341640	HP:0100627	Displacement of the external urethral meatus
OMIM:219000	FREM2	341640	HP:0006610	Wide intermamillary distance
OMIM:219000	FREM2	341640	HP:0000175	Cleft palate
OMIM:219000	FREM2	341640	HP:0002084	Encephalocele
OMIM:219000	FREM2	341640	HP:0000378	Cupped ear
OMIM:219000	FREM2	341640	HP:0000405	Conductive hearing impairment
OMIM:219000	FREM2	341640	HP:0002101	Abnormal lung lobation
OMIM:219000	FREM2	341640	HP:0000238	Hydrocephalus
OMIM:219000	FREM2	341640	HP:0000142	Abnormality of the vagina
OMIM:219000	FREM2	341640	HP:0001539	Omphalocele
OMIM:219000	FREM2	341640	HP:0010554	Cutaneous finger syndactyly
OMIM:219000	FREM2	341640	HP:0000813	Bicornuate uterus
OMIM:219000	FREM2	341640	HP:0005280	Depressed nasal bridge
OMIM:219000	FREM2	341640	HP:0000003	Multicystic kidney dysplasia
OMIM:219000	FREM2	341640	HP:0001627	Abnormal heart morphology
OMIM:219000	FREM2	341640	HP:0000505	Visual impairment
OMIM:219000	FREM2	341640	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:219000	FREM2	341640	HP:0010458	Female pseudohermaphroditism
OMIM:219000	FREM2	341640	HP:0000452	Choanal stenosis
OMIM:219000	FREM2	341640	HP:0004404	Abnormality of the nipple
OMIM:219000	FREM2	341640	HP:0008050	Abnormality of the palpebral fissures
OMIM:219000	FREM2	341640	HP:0000164	Abnormality of the teeth
OMIM:219000	FREM2	341640	HP:0000183	Difficulty in tongue movements
OMIM:219000	FREM2	341640	HP:0006101	Finger syndactyly
OMIM:219000	FREM2	341640	HP:0000369	Low-set ears
OMIM:219000	FREM2	341640	HP:0002244	Abnormality of the small intestine
OMIM:219000	FREM2	341640	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:219000	FREM2	341640	HP:0000046	Scrotal hypoplasia
OMIM:219000	FREM2	341640	HP:0001537	Umbilical hernia
OMIM:219000	FREM2	341640	HP:0000445	Wide nose
OMIM:219000	FREM2	341640	HP:0002777	Tracheal stenosis
OMIM:219000	FREM2	341640	HP:0000678	Dental crowding
OMIM:219000	FREM2	341640	HP:0001770	Toe syndactyly
OMIM:219000	FREM2	341640	HP:0000047	Hypospadias
OMIM:219000	FREM2	341640	HP:0000062	Ambiguous genitalia
OMIM:219000	FREM2	341640	HP:0000007	Autosomal recessive inheritance
OMIM:219000	FREM2	341640	HP:0000528	Anophthalmia
OMIM:219000	FREM2	341640	HP:0008736	Hypoplasia of penis
OMIM:219000	FREM2	341640	HP:0000431	Wide nasal bridge
OMIM:219000	FREM2	341640	HP:0000689	Dental malocclusion
OMIM:602629	THAP1	55145	HP:0000006	Autosomal dominant inheritance
OMIM:602629	THAP1	55145	HP:0001304	Torsion dystonia
OMIM:602629	THAP1	55145	HP:0002356	Writer's cramp
OMIM:602629	THAP1	55145	HP:0003829	Incomplete penetrance
OMIM:602629	THAP1	55145	HP:0000473	Torticollis
OMIM:602629	THAP1	55145	HP:0001336	Myoclonus
OMIM:602629	THAP1	55145	HP:0000234	Abnormality of the head
OMIM:602629	THAP1	55145	HP:0002451	Limb dystonia
OMIM:602629	THAP1	55145	HP:0001260	Dysarthria
OMIM:309630	FGF16	8823	HP:0001419	X-linked recessive inheritance
OMIM:309630	FGF16	8823	HP:0001163	Abnormality of the metacarpal bones
OMIM:604391	MRE11A	4361	HP:0007772	Impaired smooth pursuit
OMIM:604391	MRE11A	4361	HP:0000007	Autosomal recessive inheritance
OMIM:604391	MRE11A	4361	HP:0002075	Dysdiadochokinesis
OMIM:604391	MRE11A	4361	HP:0002072	Chorea
OMIM:604391	MRE11A	4361	HP:0001009	Telangiectasia
OMIM:604391	MRE11A	4361	HP:0001332	Dystonia
OMIM:604391	MRE11A	4361	HP:0001265	Hyporeflexia
OMIM:604391	MRE11A	4361	HP:0003676	Progressive
OMIM:604391	MRE11A	4361	HP:0003693	Distal amyotrophy
OMIM:604391	MRE11A	4361	HP:0001272	Cerebellar atrophy
OMIM:604391	MRE11A	4361	HP:0002061	Lower limb spasticity
OMIM:604391	MRE11A	4361	HP:0000657	Oculomotor apraxia
OMIM:604391	MRE11A	4361	HP:0000571	Hypometric saccades
OMIM:604391	MRE11A	4361	HP:0002066	Gait ataxia
OMIM:604391	MRE11A	4361	HP:0000640	Gaze-evoked nystagmus
OMIM:604391	MRE11A	4361	HP:0001260	Dysarthria
OMIM:604391	MRE11A	4361	HP:0002359	Frequent falls
OMIM:600625	BMP4	652	HP:0002006	Facial cleft
OMIM:600625	BMP4	652	HP:0000202	Oral cleft
OMIM:607628	CACNB4	785	HP:0002123	Generalized myoclonic seizures
OMIM:607628	CACNB4	785	HP:0000006	Autosomal dominant inheritance
OMIM:607628	CACNB4	785	HP:0002121	Absence seizures
OMIM:607628	CACNB4	785	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607628	GABRD	2563	HP:0002123	Generalized myoclonic seizures
OMIM:607628	GABRD	2563	HP:0000006	Autosomal dominant inheritance
OMIM:607628	GABRD	2563	HP:0002121	Absence seizures
OMIM:607628	GABRD	2563	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607628	JRK	8629	HP:0002123	Generalized myoclonic seizures
OMIM:607628	JRK	8629	HP:0000006	Autosomal dominant inheritance
OMIM:607628	JRK	8629	HP:0002121	Absence seizures
OMIM:607628	JRK	8629	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607628	EFHC1	114327	HP:0002123	Generalized myoclonic seizures
OMIM:607628	EFHC1	114327	HP:0000006	Autosomal dominant inheritance
OMIM:607628	EFHC1	114327	HP:0002121	Absence seizures
OMIM:607628	EFHC1	114327	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607628	GABRA1	2554	HP:0002123	Generalized myoclonic seizures
OMIM:607628	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:607628	GABRA1	2554	HP:0002121	Absence seizures
OMIM:607628	GABRA1	2554	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607628	KCNQ3	3786	HP:0002123	Generalized myoclonic seizures
OMIM:607628	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:607628	KCNQ3	3786	HP:0002121	Absence seizures
OMIM:607628	KCNQ3	3786	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607628	CLCN2	1181	HP:0002123	Generalized myoclonic seizures
OMIM:607628	CLCN2	1181	HP:0000006	Autosomal dominant inheritance
OMIM:607628	CLCN2	1181	HP:0002121	Absence seizures
OMIM:607628	CLCN2	1181	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:238710	AASS	10157	HP:0001249	Intellectual disability
OMIM:238710	AASS	10157	HP:0000007	Autosomal recessive inheritance
OMIM:615401	CORO1A	11151	HP:0000007	Autosomal recessive inheritance
OMIM:615401	CORO1A	11151	HP:0002721	Immunodeficiency
OMIM:615401	CORO1A	11151	HP:0000752	Hyperactivity
OMIM:615401	CORO1A	11151	HP:0002205	Recurrent respiratory infections
OMIM:615401	CORO1A	11151	HP:0001263	Global developmental delay
OMIM:615401	CORO1A	11151	HP:0003593	Infantile onset
OMIM:143095	CHST3	9469	HP:0002967	Cubitus valgus
OMIM:143095	CHST3	9469	HP:0001762	Talipes equinovarus
OMIM:143095	CHST3	9469	HP:0000687	Widely spaced teeth
OMIM:143095	CHST3	9469	HP:0001714	Ventricular hypertrophy
OMIM:143095	CHST3	9469	HP:0003042	Elbow dislocation
OMIM:143095	CHST3	9469	HP:0000337	Broad forehead
OMIM:143095	CHST3	9469	HP:0002938	Lumbar hyperlordosis
OMIM:143095	CHST3	9469	HP:0000343	Long philtrum
OMIM:143095	CHST3	9469	HP:0000470	Short neck
OMIM:143095	CHST3	9469	HP:0001156	Brachydactyly syndrome
OMIM:143095	CHST3	9469	HP:0002857	Genu valgum
OMIM:143095	CHST3	9469	HP:0000006	Autosomal dominant inheritance
OMIM:143095	CHST3	9469	HP:0002553	Highly arched eyebrow
OMIM:143095	CHST3	9469	HP:0003301	Irregular vertebral endplates
OMIM:143095	CHST3	9469	HP:0002750	Delayed skeletal maturation
OMIM:143095	CHST3	9469	HP:0000684	Delayed eruption of teeth
OMIM:143095	CHST3	9469	HP:0003071	Flattened epiphysis
OMIM:143095	CHST3	9469	HP:0001629	Ventricular septal defect
OMIM:143095	CHST3	9469	HP:0010049	Short metacarpal
OMIM:143095	CHST3	9469	HP:0000535	Sparse eyebrow
OMIM:143095	CHST3	9469	HP:0002982	Tibial bowing
OMIM:143095	CHST3	9469	HP:0001653	Mitral regurgitation
OMIM:143095	CHST3	9469	HP:0008551	Microtia
OMIM:143095	CHST3	9469	HP:0100864	Short femoral neck
OMIM:143095	CHST3	9469	HP:0001718	Mitral stenosis
OMIM:143095	CHST3	9469	HP:0002515	Waddling gait
OMIM:143095	CHST3	9469	HP:0003417	Coronal cleft vertebrae
OMIM:143095	CHST3	9469	HP:0000218	High palate
OMIM:143095	CHST3	9469	HP:0003022	Hypoplasia of the ulna
OMIM:143095	CHST3	9469	HP:0009179	Deviation of the 5th finger
OMIM:143095	CHST3	9469	HP:0100490	Camptodactyly of finger
OMIM:143095	CHST3	9469	HP:0006610	Wide intermamillary distance
OMIM:143095	CHST3	9469	HP:0000691	Microdontia
OMIM:143095	CHST3	9469	HP:0002751	Kyphoscoliosis
OMIM:143095	CHST3	9469	HP:0001642	Pulmonic stenosis
OMIM:143095	CHST3	9469	HP:0001763	Pes planus
OMIM:143095	CHST3	9469	HP:0009803	Short phalanx of finger
OMIM:143095	CHST3	9469	HP:0000007	Autosomal recessive inheritance
OMIM:143095	CHST3	9469	HP:0008905	Rhizomelia
OMIM:143095	CHST3	9469	HP:0001650	Aortic valve stenosis
OMIM:143095	CHST3	9469	HP:0002829	Arthralgia
OMIM:143095	CHST3	9469	HP:0002194	Delayed gross motor development
OMIM:143095	CHST3	9469	HP:0001659	Aortic regurgitation
OMIM:143095	CHST3	9469	HP:0009882	Short distal phalanx of finger
OMIM:143095	CHST3	9469	HP:0000365	Hearing impairment
OMIM:143095	CHST3	9469	HP:0001552	Barrel-shaped chest
OMIM:143095	CHST3	9469	HP:0005180	Tricuspid regurgitation
OMIM:143095	CHST3	9469	HP:0000316	Hypertelorism
OMIM:166750	FADD	8772	HP:0000276	Long face
OMIM:166750	FADD	8772	HP:0000343	Long philtrum
OMIM:166750	FADD	8772	HP:0000463	Anteverted nares
OMIM:166750	FADD	8772	HP:0000668	Hypodontia
OMIM:166750	FADD	8772	HP:0000679	Taurodontia
OMIM:166750	FADD	8772	HP:0003771	Pulp stones
OMIM:166750	FADD	8772	HP:0000407	Sensorineural hearing impairment
OMIM:166750	FADD	8772	HP:0001100	Heterochromia iridis
OMIM:166750	FADD	8772	HP:0000006	Autosomal dominant inheritance
OMIM:166750	FADD	8772	HP:0000589	Coloboma
OMIM:166750	FADD	8772	HP:0000293	Full cheeks
OMIM:166750	FADD	8772	HP:0000689	Dental malocclusion
OMIM:166750	FADD	8772	HP:0000682	Abnormality of dental enamel
OMIM:166750	FADD	8772	HP:0000212	Gingival overgrowth
OMIM:166750	FADD	8772	HP:0000995	Melanocytic nevus
OMIM:166750	FADD	8772	HP:0000612	Iris coloboma
OMIM:166750	FADD	8772	HP:0009804	Reduced number of teeth
OMIM:166750	FADD	8772	HP:0000482	Microcornea
OMIM:166750	FADD	8772	HP:0000518	Cataract
OMIM:166750	FADD	8772	HP:0000684	Delayed eruption of teeth
OMIM:166750	FADD	8772	HP:0000567	Chorioretinal coloboma
OMIM:166750	FADD	8772	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:166750	FADD	8772	HP:0000347	Micrognathia
OMIM:166750	FADD	8772	HP:0000174	Abnormality of the palate
OMIM:166750	FADD	8772	HP:0000377	Abnormality of the pinna
OMIM:166750	FGF3	2248	HP:0000276	Long face
OMIM:166750	FGF3	2248	HP:0000343	Long philtrum
OMIM:166750	FGF3	2248	HP:0000463	Anteverted nares
OMIM:166750	FGF3	2248	HP:0000668	Hypodontia
OMIM:166750	FGF3	2248	HP:0000679	Taurodontia
OMIM:166750	FGF3	2248	HP:0003771	Pulp stones
OMIM:166750	FGF3	2248	HP:0000407	Sensorineural hearing impairment
OMIM:166750	FGF3	2248	HP:0001100	Heterochromia iridis
OMIM:166750	FGF3	2248	HP:0000006	Autosomal dominant inheritance
OMIM:166750	FGF3	2248	HP:0000589	Coloboma
OMIM:166750	FGF3	2248	HP:0000293	Full cheeks
OMIM:166750	FGF3	2248	HP:0000689	Dental malocclusion
OMIM:166750	FGF3	2248	HP:0000682	Abnormality of dental enamel
OMIM:166750	FGF3	2248	HP:0000212	Gingival overgrowth
OMIM:166750	FGF3	2248	HP:0000995	Melanocytic nevus
OMIM:166750	FGF3	2248	HP:0000612	Iris coloboma
OMIM:166750	FGF3	2248	HP:0009804	Reduced number of teeth
OMIM:166750	FGF3	2248	HP:0000482	Microcornea
OMIM:166750	FGF3	2248	HP:0000518	Cataract
OMIM:166750	FGF3	2248	HP:0000684	Delayed eruption of teeth
OMIM:166750	FGF3	2248	HP:0000567	Chorioretinal coloboma
OMIM:166750	FGF3	2248	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:166750	FGF3	2248	HP:0000347	Micrognathia
OMIM:166750	FGF3	2248	HP:0000174	Abnormality of the palate
OMIM:166750	FGF3	2248	HP:0000377	Abnormality of the pinna
OMIM:611818	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:611818	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:611818	CALM1	801	HP:0004308	Ventricular arrhythmia
OMIM:611818	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:611818	CALM2	805	HP:0001657	Prolonged QT interval
OMIM:611818	CALM2	805	HP:0004308	Ventricular arrhythmia
OMIM:611818	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:611818	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:611818	KCNE2	9992	HP:0004308	Ventricular arrhythmia
OMIM:611818	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:611818	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:611818	KCNQ1	3784	HP:0004308	Ventricular arrhythmia
OMIM:611818	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:611818	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:611818	KCNE1	3753	HP:0004308	Ventricular arrhythmia
OMIM:611818	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:611818	KCNH2	3757	HP:0001657	Prolonged QT interval
OMIM:611818	KCNH2	3757	HP:0004308	Ventricular arrhythmia
OMIM:611818	SNTA1	6640	HP:0000006	Autosomal dominant inheritance
OMIM:611818	SNTA1	6640	HP:0001657	Prolonged QT interval
OMIM:611818	SNTA1	6640	HP:0004308	Ventricular arrhythmia
OMIM:611818	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:611818	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:611818	KCNJ5	3762	HP:0004308	Ventricular arrhythmia
OMIM:611818	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:611818	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:611818	SCN4B	6330	HP:0004308	Ventricular arrhythmia
OMIM:611818	NOS1AP	9722	HP:0000006	Autosomal dominant inheritance
OMIM:611818	NOS1AP	9722	HP:0001657	Prolonged QT interval
OMIM:611818	NOS1AP	9722	HP:0004308	Ventricular arrhythmia
OMIM:611818	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:611818	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:611818	CAV3	859	HP:0004308	Ventricular arrhythmia
OMIM:611818	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:611818	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:611818	SCN5A	6331	HP:0004308	Ventricular arrhythmia
OMIM:611818	AKAP9	10142	HP:0000006	Autosomal dominant inheritance
OMIM:611818	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:611818	AKAP9	10142	HP:0004308	Ventricular arrhythmia
OMIM:611818	ANK2	287	HP:0000006	Autosomal dominant inheritance
OMIM:611818	ANK2	287	HP:0001657	Prolonged QT interval
OMIM:611818	ANK2	287	HP:0004308	Ventricular arrhythmia
OMIM:242900	SMARCAL1	50485	HP:0000995	Melanocytic nevus
OMIM:242900	SMARCAL1	50485	HP:0002515	Waddling gait
OMIM:242900	SMARCAL1	50485	HP:0001873	Thrombocytopenia
OMIM:242900	SMARCAL1	50485	HP:0000957	Cafe-au-lait spot
OMIM:242900	SMARCAL1	50485	HP:0005280	Depressed nasal bridge
OMIM:242900	SMARCAL1	50485	HP:0000093	Proteinuria
OMIM:242900	SMARCAL1	50485	HP:0003182	Shallow acetabular fossae
OMIM:242900	SMARCAL1	50485	HP:0002719	Recurrent infections
OMIM:242900	SMARCAL1	50485	HP:0000470	Short neck
OMIM:242900	SMARCAL1	50485	HP:0001903	Anemia
OMIM:242900	SMARCAL1	50485	HP:0000545	Myopia
OMIM:242900	SMARCAL1	50485	HP:0000100	Nephrotic syndrome
OMIM:242900	SMARCAL1	50485	HP:0001875	Neutropenia
OMIM:242900	SMARCAL1	50485	HP:0000691	Microdontia
OMIM:242900	SMARCAL1	50485	HP:0000083	Renal insufficiency
OMIM:242900	SMARCAL1	50485	HP:0002938	Lumbar hyperlordosis
OMIM:242900	SMARCAL1	50485	HP:0000414	Bulbous nose
OMIM:242900	SMARCAL1	50485	HP:0000938	Osteopenia
OMIM:242900	SMARCAL1	50485	HP:0001511	Intrauterine growth retardation
OMIM:242900	SMARCAL1	50485	HP:0002843	Abnormality of T cells
OMIM:242900	SMARCAL1	50485	HP:0000097	Focal segmental glomerulosclerosis
OMIM:242900	SMARCAL1	50485	HP:0007759	Opacification of the corneal stroma
OMIM:242900	SMARCAL1	50485	HP:0001034	Hypermelanotic macule
OMIM:242900	SMARCAL1	50485	HP:0000007	Autosomal recessive inheritance
OMIM:242900	SMARCAL1	50485	HP:0002213	Fine hair
OMIM:242900	SMARCAL1	50485	HP:0001620	High pitched voice
OMIM:242900	SMARCAL1	50485	HP:0010701	Abnormal immunoglobulin level
OMIM:242900	SMARCAL1	50485	HP:0002634	Arteriosclerosis
OMIM:242900	SMARCAL1	50485	HP:0000926	Platyspondyly
OMIM:242900	SMARCAL1	50485	HP:0000822	Hypertension
OMIM:242900	SMARCAL1	50485	HP:0002208	Coarse hair
OMIM:242900	SMARCAL1	50485	HP:0001270	Motor delay
OMIM:242900	SMARCAL1	50485	HP:0003300	Ovoid vertebral bodies
OMIM:242900	SMARCAL1	50485	HP:0001538	Protuberant abdomen
OMIM:242900	SMARCAL1	50485	HP:0000483	Astigmatism
OMIM:242900	SMARCAL1	50485	HP:0003521	Disproportionate short-trunk short stature
OMIM:242900	SMARCAL1	50485	HP:0005374	Cellular immunodeficiency
OMIM:274800	SLC5A5	6528	HP:0001510	Growth delay
OMIM:274800	SLC5A5	6528	HP:0000007	Autosomal recessive inheritance
OMIM:274800	SLC5A5	6528	HP:0000821	Hypothyroidism
OMIM:274800	SLC5A5	6528	HP:0000853	Goiter
OMIM:274800	SLC5A5	6528	HP:0001249	Intellectual disability
OMIM:274800	TPO	7173	HP:0001510	Growth delay
OMIM:274800	TPO	7173	HP:0000007	Autosomal recessive inheritance
OMIM:274800	TPO	7173	HP:0000821	Hypothyroidism
OMIM:274800	TPO	7173	HP:0000853	Goiter
OMIM:274800	TPO	7173	HP:0001249	Intellectual disability
OMIM:274800	DUOX2	50506	HP:0001510	Growth delay
OMIM:274800	DUOX2	50506	HP:0000007	Autosomal recessive inheritance
OMIM:274800	DUOX2	50506	HP:0000821	Hypothyroidism
OMIM:274800	DUOX2	50506	HP:0000853	Goiter
OMIM:274800	DUOX2	50506	HP:0001249	Intellectual disability
OMIM:274800	TG	7038	HP:0001510	Growth delay
OMIM:274800	TG	7038	HP:0000007	Autosomal recessive inheritance
OMIM:274800	TG	7038	HP:0000821	Hypothyroidism
OMIM:274800	TG	7038	HP:0000853	Goiter
OMIM:274800	TG	7038	HP:0001249	Intellectual disability
OMIM:274800	IYD	389434	HP:0001510	Growth delay
OMIM:274800	IYD	389434	HP:0000007	Autosomal recessive inheritance
OMIM:274800	IYD	389434	HP:0000821	Hypothyroidism
OMIM:274800	IYD	389434	HP:0000853	Goiter
OMIM:274800	IYD	389434	HP:0001249	Intellectual disability
OMIM:274800	DUOXA2	405753	HP:0001510	Growth delay
OMIM:274800	DUOXA2	405753	HP:0000007	Autosomal recessive inheritance
OMIM:274800	DUOXA2	405753	HP:0000821	Hypothyroidism
OMIM:274800	DUOXA2	405753	HP:0000853	Goiter
OMIM:274800	DUOXA2	405753	HP:0001249	Intellectual disability
OMIM:300886	CLIC2	1193	HP:0000400	Macrotia
OMIM:300886	CLIC2	1193	HP:0001344	Absent speech
OMIM:300886	CLIC2	1193	HP:0001263	Global developmental delay
OMIM:300886	CLIC2	1193	HP:0000053	Macroorchidism
OMIM:300886	CLIC2	1193	HP:0001640	Cardiomegaly
OMIM:300886	CLIC2	1193	HP:0002751	Kyphoscoliosis
OMIM:300886	CLIC2	1193	HP:0002187	Intellectual disability, profound
OMIM:300886	CLIC2	1193	HP:0001257	Spasticity
OMIM:300886	CLIC2	1193	HP:0004749	Atrial flutter
OMIM:300886	CLIC2	1193	HP:0001250	Seizures
OMIM:300886	CLIC2	1193	HP:0000238	Hydrocephalus
OMIM:300886	CLIC2	1193	HP:0001635	Congestive heart failure
OMIM:300886	CLIC2	1193	HP:0001419	X-linked recessive inheritance
OMIM:609622	KCNQ1	3784	HP:0001962	Palpitations
OMIM:609622	KCNQ1	3784	HP:0012232	Shortened QT interval
OMIM:609622	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:609622	KCNQ1	3784	HP:0001649	Tachycardia
OMIM:609622	KCNH2	3757	HP:0001962	Palpitations
OMIM:609622	KCNH2	3757	HP:0012232	Shortened QT interval
OMIM:609622	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:609622	KCNH2	3757	HP:0001649	Tachycardia
OMIM:609622	CACNA2D1	781	HP:0001962	Palpitations
OMIM:609622	CACNA2D1	781	HP:0012232	Shortened QT interval
OMIM:609622	CACNA2D1	781	HP:0000006	Autosomal dominant inheritance
OMIM:609622	CACNA2D1	781	HP:0001649	Tachycardia
OMIM:609622	KCNJ2	3759	HP:0001962	Palpitations
OMIM:609622	KCNJ2	3759	HP:0012232	Shortened QT interval
OMIM:609622	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:609622	KCNJ2	3759	HP:0001649	Tachycardia
OMIM:214300	GDF3	9573	HP:0000007	Autosomal recessive inheritance
OMIM:214300	GDF3	9573	HP:0002162	Low posterior hairline
OMIM:214300	GDF3	9573	HP:0000470	Short neck
OMIM:214300	GDF3	9573	HP:0000204	Cleft upper lip
OMIM:214300	GDF3	9573	HP:0001629	Ventricular septal defect
OMIM:214300	GDF3	9573	HP:0002650	Scoliosis
OMIM:214300	GDF3	9573	HP:0000407	Sensorineural hearing impairment
OMIM:214300	GDF3	9573	HP:0002949	Fused cervical vertebrae
OMIM:214300	GDF3	9573	HP:0000405	Conductive hearing impairment
OMIM:214300	GDF3	9573	HP:0000377	Abnormality of the pinna
OMIM:214300	GDF3	9573	HP:0000175	Cleft palate
OMIM:214300	GDF3	9573	HP:0000912	Sprengel anomaly
OMIM:214300	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:214300	GDF6	392255	HP:0002162	Low posterior hairline
OMIM:214300	GDF6	392255	HP:0000470	Short neck
OMIM:214300	GDF6	392255	HP:0000204	Cleft upper lip
OMIM:214300	GDF6	392255	HP:0001629	Ventricular septal defect
OMIM:214300	GDF6	392255	HP:0002650	Scoliosis
OMIM:214300	GDF6	392255	HP:0000407	Sensorineural hearing impairment
OMIM:214300	GDF6	392255	HP:0002949	Fused cervical vertebrae
OMIM:214300	GDF6	392255	HP:0000405	Conductive hearing impairment
OMIM:214300	GDF6	392255	HP:0000377	Abnormality of the pinna
OMIM:214300	GDF6	392255	HP:0000175	Cleft palate
OMIM:214300	GDF6	392255	HP:0000912	Sprengel anomaly
OMIM:214300	MEOX1	4222	HP:0000007	Autosomal recessive inheritance
OMIM:214300	MEOX1	4222	HP:0002162	Low posterior hairline
OMIM:214300	MEOX1	4222	HP:0000470	Short neck
OMIM:214300	MEOX1	4222	HP:0000204	Cleft upper lip
OMIM:214300	MEOX1	4222	HP:0001629	Ventricular septal defect
OMIM:214300	MEOX1	4222	HP:0002650	Scoliosis
OMIM:214300	MEOX1	4222	HP:0000407	Sensorineural hearing impairment
OMIM:214300	MEOX1	4222	HP:0002949	Fused cervical vertebrae
OMIM:214300	MEOX1	4222	HP:0000405	Conductive hearing impairment
OMIM:214300	MEOX1	4222	HP:0000377	Abnormality of the pinna
OMIM:214300	MEOX1	4222	HP:0000175	Cleft palate
OMIM:214300	MEOX1	4222	HP:0000912	Sprengel anomaly
OMIM:158900	FRG1	2483	HP:0011463	Childhood onset
OMIM:158900	FRG1	2483	HP:0001250	Seizures
OMIM:158900	FRG1	2483	HP:0003236	Elevated serum creatine phosphokinase
OMIM:158900	FRG1	2483	HP:0010628	Facial palsy
OMIM:158900	FRG1	2483	HP:0003724	Shoulder girdle muscle atrophy
OMIM:158900	FRG1	2483	HP:0000407	Sensorineural hearing impairment
OMIM:158900	FRG1	2483	HP:0002015	Dysphagia
OMIM:158900	FRG1	2483	HP:0003547	Shoulder girdle muscle weakness
OMIM:158900	FRG1	2483	HP:0003677	Slow progression
OMIM:158900	FRG1	2483	HP:0008981	Calf muscle hypertrophy
OMIM:158900	FRG1	2483	HP:0012473	Tongue atrophy
OMIM:158900	FRG1	2483	HP:0000006	Autosomal dominant inheritance
OMIM:158900	FRG1	2483	HP:0001249	Intellectual disability
OMIM:158900	FRG1	2483	HP:0003691	Scapular winging
OMIM:158900	FRG1	2483	HP:0000544	External ophthalmoplegia
OMIM:158900	SMCHD1	23347	HP:0011463	Childhood onset
OMIM:158900	SMCHD1	23347	HP:0001250	Seizures
OMIM:158900	SMCHD1	23347	HP:0003236	Elevated serum creatine phosphokinase
OMIM:158900	SMCHD1	23347	HP:0010628	Facial palsy
OMIM:158900	SMCHD1	23347	HP:0003724	Shoulder girdle muscle atrophy
OMIM:158900	SMCHD1	23347	HP:0000407	Sensorineural hearing impairment
OMIM:158900	SMCHD1	23347	HP:0002015	Dysphagia
OMIM:158900	SMCHD1	23347	HP:0003547	Shoulder girdle muscle weakness
OMIM:158900	SMCHD1	23347	HP:0003677	Slow progression
OMIM:158900	SMCHD1	23347	HP:0008981	Calf muscle hypertrophy
OMIM:158900	SMCHD1	23347	HP:0012473	Tongue atrophy
OMIM:158900	SMCHD1	23347	HP:0000006	Autosomal dominant inheritance
OMIM:158900	SMCHD1	23347	HP:0001249	Intellectual disability
OMIM:158900	SMCHD1	23347	HP:0003691	Scapular winging
OMIM:158900	SMCHD1	23347	HP:0000544	External ophthalmoplegia
OMIM:158900	DUX4	100288687	HP:0011463	Childhood onset
OMIM:158900	DUX4	100288687	HP:0001250	Seizures
OMIM:158900	DUX4	100288687	HP:0003236	Elevated serum creatine phosphokinase
OMIM:158900	DUX4	100288687	HP:0010628	Facial palsy
OMIM:158900	DUX4	100288687	HP:0003724	Shoulder girdle muscle atrophy
OMIM:158900	DUX4	100288687	HP:0000407	Sensorineural hearing impairment
OMIM:158900	DUX4	100288687	HP:0002015	Dysphagia
OMIM:158900	DUX4	100288687	HP:0003547	Shoulder girdle muscle weakness
OMIM:158900	DUX4	100288687	HP:0003677	Slow progression
OMIM:158900	DUX4	100288687	HP:0008981	Calf muscle hypertrophy
OMIM:158900	DUX4	100288687	HP:0012473	Tongue atrophy
OMIM:158900	DUX4	100288687	HP:0000006	Autosomal dominant inheritance
OMIM:158900	DUX4	100288687	HP:0001249	Intellectual disability
OMIM:158900	DUX4	100288687	HP:0003691	Scapular winging
OMIM:158900	DUX4	100288687	HP:0000544	External ophthalmoplegia
OMIM:228020	FBN1	2200	HP:0000007	Autosomal recessive inheritance
OMIM:228020	FBN1	2200	HP:0000951	Abnormality of the skin
OMIM:228020	FBN1	2200	HP:0005750	Contractures of the joints of the lower limbs
OMIM:228020	FBN1	2200	HP:0002086	Abnormality of the respiratory system
OMIM:228020	FBN1	2200	HP:0000765	Abnormality of the thorax
OMIM:228020	FBN1	2200	HP:0001376	Limitation of joint mobility
OMIM:602473	ETHE1	23474	HP:0001252	Muscular hypotonia
OMIM:602473	ETHE1	23474	HP:0003128	Lactic acidosis
OMIM:602473	ETHE1	23474	HP:0002028	Chronic diarrhea
OMIM:602473	ETHE1	23474	HP:0001249	Intellectual disability
OMIM:602473	ETHE1	23474	HP:0001251	Ataxia
OMIM:602473	ETHE1	23474	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:602473	ETHE1	23474	HP:0001298	Encephalopathy
OMIM:602473	ETHE1	23474	HP:0001508	Failure to thrive
OMIM:602473	ETHE1	23474	HP:0002376	Developmental regression
OMIM:602473	ETHE1	23474	HP:0000967	Petechiae
OMIM:602473	ETHE1	23474	HP:0000007	Autosomal recessive inheritance
OMIM:602473	ETHE1	23474	HP:0001263	Global developmental delay
OMIM:602473	ETHE1	23474	HP:0008046	Abnormality of the retinal vasculature
OMIM:602473	ETHE1	23474	HP:0001250	Seizures
OMIM:605432	HOXA11	3207	HP:0000006	Autosomal dominant inheritance
OMIM:605432	HOXA11	3207	HP:0005528	Bone marrow hypocellularity
OMIM:605432	HOXA11	3207	HP:0001903	Anemia
OMIM:605432	HOXA11	3207	HP:0004209	Clinodactyly of the 5th finger
OMIM:605432	HOXA11	3207	HP:0002974	Radioulnar synostosis
OMIM:605432	HOXA11	3207	HP:0002986	Radial bowing
OMIM:605432	HOXA11	3207	HP:0006101	Finger syndactyly
OMIM:605432	HOXA11	3207	HP:0002827	Hip dislocation
OMIM:605432	HOXA11	3207	HP:0003272	Abnormality of the hip bone
OMIM:605432	HOXA11	3207	HP:0001159	Syndactyly
OMIM:605432	HOXA11	3207	HP:0000407	Sensorineural hearing impairment
OMIM:605432	HOXA11	3207	HP:0001915	Aplastic anemia
OMIM:605432	HOXA11	3207	HP:0001873	Thrombocytopenia
OMIM:605432	HOXA11	3207	HP:0003182	Shallow acetabular fossae
OMIM:605432	HOXA11	3207	HP:0000979	Purpura
OMIM:605432	HOXA11	3207	HP:0000967	Petechiae
OMIM:278000	LIPA	3988	HP:0003124	Hypercholesterolemia
OMIM:278000	LIPA	3988	HP:0002570	Steatorrhea
OMIM:278000	LIPA	3988	HP:0001508	Failure to thrive
OMIM:278000	LIPA	3988	HP:0001824	Weight loss
OMIM:278000	LIPA	3988	HP:0002017	Nausea and vomiting
OMIM:278000	LIPA	3988	HP:0002027	Abdominal pain
OMIM:278000	LIPA	3988	HP:0001522	Death in infancy
OMIM:278000	LIPA	3988	HP:0004370	Abnormality of temperature regulation
OMIM:278000	LIPA	3988	HP:0001744	Splenomegaly
OMIM:278000	LIPA	3988	HP:0001538	Protuberant abdomen
OMIM:278000	LIPA	3988	HP:0001394	Cirrhosis
OMIM:278000	LIPA	3988	HP:0100543	Cognitive impairment
OMIM:278000	LIPA	3988	HP:0002240	Hepatomegaly
OMIM:278000	LIPA	3988	HP:0000962	Hyperkeratosis
OMIM:278000	LIPA	3988	HP:0001395	Hepatic fibrosis
OMIM:278000	LIPA	3988	HP:0004372	Reduced consciousness/confusion
OMIM:278000	LIPA	3988	HP:0001433	Hepatosplenomegaly
OMIM:278000	LIPA	3988	HP:0001399	Hepatic failure
OMIM:278000	LIPA	3988	HP:0000989	Pruritus
OMIM:278000	LIPA	3988	HP:0002024	Malabsorption
OMIM:278000	LIPA	3988	HP:0001903	Anemia
OMIM:278000	LIPA	3988	HP:0002013	Vomiting
OMIM:278000	LIPA	3988	HP:0000834	Abnormality of the adrenal glands
OMIM:278000	LIPA	3988	HP:0002014	Diarrhea
OMIM:278000	LIPA	3988	HP:0002621	Atherosclerosis
OMIM:278000	LIPA	3988	HP:0001541	Ascites
OMIM:278000	LIPA	3988	HP:0000007	Autosomal recessive inheritance
OMIM:220500	TBC1D24	57465	HP:0001305	Dandy-Walker malformation
OMIM:220500	TBC1D24	57465	HP:0000104	Renal agenesis
OMIM:220500	TBC1D24	57465	HP:0000280	Coarse facial features
OMIM:220500	TBC1D24	57465	HP:0000232	Everted lower lip vermilion
OMIM:220500	TBC1D24	57465	HP:0001250	Seizures
OMIM:220500	TBC1D24	57465	HP:0002164	Nail dysplasia
OMIM:220500	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:220500	TBC1D24	57465	HP:0001798	Anonychia
OMIM:220500	TBC1D24	57465	HP:0000648	Optic atrophy
OMIM:220500	TBC1D24	57465	HP:0009882	Short distal phalanx of finger
OMIM:220500	TBC1D24	57465	HP:0000431	Wide nasal bridge
OMIM:220500	TBC1D24	57465	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:220500	TBC1D24	57465	HP:0000343	Long philtrum
OMIM:220500	TBC1D24	57465	HP:0008404	Nail dystrophy
OMIM:220500	TBC1D24	57465	HP:0000463	Anteverted nares
OMIM:220500	TBC1D24	57465	HP:0001249	Intellectual disability
OMIM:220500	TBC1D24	57465	HP:0000448	Prominent nose
OMIM:220500	TBC1D24	57465	HP:0000518	Cataract
OMIM:220500	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:220500	TBC1D24	57465	HP:0000218	High palate
OMIM:220500	TBC1D24	57465	HP:0000369	Low-set ears
OMIM:220500	TBC1D24	57465	HP:0000951	Abnormality of the skin
OMIM:220500	TBC1D24	57465	HP:0002714	Downturned corners of mouth
OMIM:220500	TBC1D24	57465	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:220500	TBC1D24	57465	HP:0000414	Bulbous nose
OMIM:220500	TBC1D24	57465	HP:0011476	Profound sensorineural hearing impairment
OMIM:220500	TBC1D24	57465	HP:0001156	Brachydactyly syndrome
OMIM:220500	TBC1D24	57465	HP:0001199	Triphalangeal thumb
OMIM:220500	TBC1D24	57465	HP:0001252	Muscular hypotonia
OMIM:220500	TBC1D24	57465	HP:0000252	Microcephaly
OMIM:220500	TBC1D24	57465	HP:0011003	Severe Myopia
OMIM:220500	TBC1D24	57465	HP:0000618	Blindness
OMIM:220500	TBC1D24	57465	HP:0003676	Progressive
OMIM:220500	TBC1D24	57465	HP:0001265	Hyporeflexia
OMIM:220500	TBC1D24	57465	HP:0002059	Cerebral atrophy
OMIM:146200	PTH	5741	HP:0000518	Cataract
OMIM:146200	PTH	5741	HP:0001281	Tetany
OMIM:146200	PTH	5741	HP:0002901	Hypocalcemia
OMIM:146200	PTH	5741	HP:0000829	Hypoparathyroidism
OMIM:146200	PTH	5741	HP:0002905	Hyperphosphatemia
OMIM:146200	PTH	5741	HP:0000006	Autosomal dominant inheritance
OMIM:146200	PTH	5741	HP:0001250	Seizures
OMIM:146200	PTH	5741	HP:0002514	Cerebral calcification
OMIM:146200	GCM2	9247	HP:0000518	Cataract
OMIM:146200	GCM2	9247	HP:0001281	Tetany
OMIM:146200	GCM2	9247	HP:0002901	Hypocalcemia
OMIM:146200	GCM2	9247	HP:0000829	Hypoparathyroidism
OMIM:146200	GCM2	9247	HP:0002905	Hyperphosphatemia
OMIM:146200	GCM2	9247	HP:0000006	Autosomal dominant inheritance
OMIM:146200	GCM2	9247	HP:0001250	Seizures
OMIM:146200	GCM2	9247	HP:0002514	Cerebral calcification
OMIM:609054	FANCC	2176	HP:0000568	Microphthalmia
OMIM:609054	FANCC	2176	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	FANCC	2176	HP:0005528	Bone marrow hypocellularity
OMIM:609054	FANCC	2176	HP:0001511	Intrauterine growth retardation
OMIM:609054	FANCC	2176	HP:0009778	Short thumb
OMIM:609054	FANCC	2176	HP:0001263	Global developmental delay
OMIM:609054	FANCC	2176	HP:0000007	Autosomal recessive inheritance
OMIM:609054	FANCC	2176	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	FANCC	2176	HP:0008897	Postnatal growth retardation
OMIM:609054	FANCD2	2177	HP:0000568	Microphthalmia
OMIM:609054	FANCD2	2177	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	FANCD2	2177	HP:0005528	Bone marrow hypocellularity
OMIM:609054	FANCD2	2177	HP:0001511	Intrauterine growth retardation
OMIM:609054	FANCD2	2177	HP:0009778	Short thumb
OMIM:609054	FANCD2	2177	HP:0001263	Global developmental delay
OMIM:609054	FANCD2	2177	HP:0000007	Autosomal recessive inheritance
OMIM:609054	FANCD2	2177	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	FANCD2	2177	HP:0008897	Postnatal growth retardation
OMIM:609054	FANCM	57697	HP:0000568	Microphthalmia
OMIM:609054	FANCM	57697	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	FANCM	57697	HP:0005528	Bone marrow hypocellularity
OMIM:609054	FANCM	57697	HP:0001511	Intrauterine growth retardation
OMIM:609054	FANCM	57697	HP:0009778	Short thumb
OMIM:609054	FANCM	57697	HP:0001263	Global developmental delay
OMIM:609054	FANCM	57697	HP:0000007	Autosomal recessive inheritance
OMIM:609054	FANCM	57697	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	FANCM	57697	HP:0008897	Postnatal growth retardation
OMIM:609054	RAD51C	5889	HP:0000568	Microphthalmia
OMIM:609054	RAD51C	5889	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	RAD51C	5889	HP:0005528	Bone marrow hypocellularity
OMIM:609054	RAD51C	5889	HP:0001511	Intrauterine growth retardation
OMIM:609054	RAD51C	5889	HP:0009778	Short thumb
OMIM:609054	RAD51C	5889	HP:0001263	Global developmental delay
OMIM:609054	RAD51C	5889	HP:0000007	Autosomal recessive inheritance
OMIM:609054	RAD51C	5889	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	RAD51C	5889	HP:0008897	Postnatal growth retardation
OMIM:609054	UBE2T	29089	HP:0000568	Microphthalmia
OMIM:609054	UBE2T	29089	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	UBE2T	29089	HP:0005528	Bone marrow hypocellularity
OMIM:609054	UBE2T	29089	HP:0001511	Intrauterine growth retardation
OMIM:609054	UBE2T	29089	HP:0009778	Short thumb
OMIM:609054	UBE2T	29089	HP:0001263	Global developmental delay
OMIM:609054	UBE2T	29089	HP:0000007	Autosomal recessive inheritance
OMIM:609054	UBE2T	29089	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	UBE2T	29089	HP:0008897	Postnatal growth retardation
OMIM:609054	FANCE	2178	HP:0000568	Microphthalmia
OMIM:609054	FANCE	2178	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	FANCE	2178	HP:0005528	Bone marrow hypocellularity
OMIM:609054	FANCE	2178	HP:0001511	Intrauterine growth retardation
OMIM:609054	FANCE	2178	HP:0009778	Short thumb
OMIM:609054	FANCE	2178	HP:0001263	Global developmental delay
OMIM:609054	FANCE	2178	HP:0000007	Autosomal recessive inheritance
OMIM:609054	FANCE	2178	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	FANCE	2178	HP:0008897	Postnatal growth retardation
OMIM:609054	BRCA2	675	HP:0000568	Microphthalmia
OMIM:609054	BRCA2	675	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	BRCA2	675	HP:0005528	Bone marrow hypocellularity
OMIM:609054	BRCA2	675	HP:0001511	Intrauterine growth retardation
OMIM:609054	BRCA2	675	HP:0009778	Short thumb
OMIM:609054	BRCA2	675	HP:0001263	Global developmental delay
OMIM:609054	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:609054	BRCA2	675	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	BRCA2	675	HP:0008897	Postnatal growth retardation
OMIM:609054	FANCB	2187	HP:0000568	Microphthalmia
OMIM:609054	FANCB	2187	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	FANCB	2187	HP:0005528	Bone marrow hypocellularity
OMIM:609054	FANCB	2187	HP:0001511	Intrauterine growth retardation
OMIM:609054	FANCB	2187	HP:0009778	Short thumb
OMIM:609054	FANCB	2187	HP:0001263	Global developmental delay
OMIM:609054	FANCB	2187	HP:0000007	Autosomal recessive inheritance
OMIM:609054	FANCB	2187	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	FANCB	2187	HP:0008897	Postnatal growth retardation
OMIM:609054	FANCF	2188	HP:0000568	Microphthalmia
OMIM:609054	FANCF	2188	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	FANCF	2188	HP:0005528	Bone marrow hypocellularity
OMIM:609054	FANCF	2188	HP:0001511	Intrauterine growth retardation
OMIM:609054	FANCF	2188	HP:0009778	Short thumb
OMIM:609054	FANCF	2188	HP:0001263	Global developmental delay
OMIM:609054	FANCF	2188	HP:0000007	Autosomal recessive inheritance
OMIM:609054	FANCF	2188	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	FANCF	2188	HP:0008897	Postnatal growth retardation
OMIM:609054	FANCG	2189	HP:0000568	Microphthalmia
OMIM:609054	FANCG	2189	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	FANCG	2189	HP:0005528	Bone marrow hypocellularity
OMIM:609054	FANCG	2189	HP:0001511	Intrauterine growth retardation
OMIM:609054	FANCG	2189	HP:0009778	Short thumb
OMIM:609054	FANCG	2189	HP:0001263	Global developmental delay
OMIM:609054	FANCG	2189	HP:0000007	Autosomal recessive inheritance
OMIM:609054	FANCG	2189	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	FANCG	2189	HP:0008897	Postnatal growth retardation
OMIM:609054	FANCI	55215	HP:0000568	Microphthalmia
OMIM:609054	FANCI	55215	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	FANCI	55215	HP:0005528	Bone marrow hypocellularity
OMIM:609054	FANCI	55215	HP:0001511	Intrauterine growth retardation
OMIM:609054	FANCI	55215	HP:0009778	Short thumb
OMIM:609054	FANCI	55215	HP:0001263	Global developmental delay
OMIM:609054	FANCI	55215	HP:0000007	Autosomal recessive inheritance
OMIM:609054	FANCI	55215	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	FANCI	55215	HP:0008897	Postnatal growth retardation
OMIM:609054	FANCL	55120	HP:0000568	Microphthalmia
OMIM:609054	FANCL	55120	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	FANCL	55120	HP:0005528	Bone marrow hypocellularity
OMIM:609054	FANCL	55120	HP:0001511	Intrauterine growth retardation
OMIM:609054	FANCL	55120	HP:0009778	Short thumb
OMIM:609054	FANCL	55120	HP:0001263	Global developmental delay
OMIM:609054	FANCL	55120	HP:0000007	Autosomal recessive inheritance
OMIM:609054	FANCL	55120	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	FANCL	55120	HP:0008897	Postnatal growth retardation
OMIM:609054	PALB2	79728	HP:0000568	Microphthalmia
OMIM:609054	PALB2	79728	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	PALB2	79728	HP:0005528	Bone marrow hypocellularity
OMIM:609054	PALB2	79728	HP:0001511	Intrauterine growth retardation
OMIM:609054	PALB2	79728	HP:0009778	Short thumb
OMIM:609054	PALB2	79728	HP:0001263	Global developmental delay
OMIM:609054	PALB2	79728	HP:0000007	Autosomal recessive inheritance
OMIM:609054	PALB2	79728	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	PALB2	79728	HP:0008897	Postnatal growth retardation
OMIM:609054	SLX4	84464	HP:0000568	Microphthalmia
OMIM:609054	SLX4	84464	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	SLX4	84464	HP:0005528	Bone marrow hypocellularity
OMIM:609054	SLX4	84464	HP:0001511	Intrauterine growth retardation
OMIM:609054	SLX4	84464	HP:0009778	Short thumb
OMIM:609054	SLX4	84464	HP:0001263	Global developmental delay
OMIM:609054	SLX4	84464	HP:0000007	Autosomal recessive inheritance
OMIM:609054	SLX4	84464	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	SLX4	84464	HP:0008897	Postnatal growth retardation
OMIM:609054	BRIP1	83990	HP:0000568	Microphthalmia
OMIM:609054	BRIP1	83990	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	BRIP1	83990	HP:0005528	Bone marrow hypocellularity
OMIM:609054	BRIP1	83990	HP:0001511	Intrauterine growth retardation
OMIM:609054	BRIP1	83990	HP:0009778	Short thumb
OMIM:609054	BRIP1	83990	HP:0001263	Global developmental delay
OMIM:609054	BRIP1	83990	HP:0000007	Autosomal recessive inheritance
OMIM:609054	BRIP1	83990	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	BRIP1	83990	HP:0008897	Postnatal growth retardation
OMIM:609054	ERCC4	2072	HP:0000568	Microphthalmia
OMIM:609054	ERCC4	2072	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	ERCC4	2072	HP:0005528	Bone marrow hypocellularity
OMIM:609054	ERCC4	2072	HP:0001511	Intrauterine growth retardation
OMIM:609054	ERCC4	2072	HP:0009778	Short thumb
OMIM:609054	ERCC4	2072	HP:0001263	Global developmental delay
OMIM:609054	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:609054	ERCC4	2072	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	ERCC4	2072	HP:0008897	Postnatal growth retardation
OMIM:609054	FANCA	2175	HP:0000568	Microphthalmia
OMIM:609054	FANCA	2175	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609054	FANCA	2175	HP:0005528	Bone marrow hypocellularity
OMIM:609054	FANCA	2175	HP:0001511	Intrauterine growth retardation
OMIM:609054	FANCA	2175	HP:0009778	Short thumb
OMIM:609054	FANCA	2175	HP:0001263	Global developmental delay
OMIM:609054	FANCA	2175	HP:0000007	Autosomal recessive inheritance
OMIM:609054	FANCA	2175	HP:0007565	Multiple cafe-au-lait spots
OMIM:609054	FANCA	2175	HP:0008897	Postnatal growth retardation
OMIM:614322	WWOX	51741	HP:0000546	Retinal degeneration
OMIM:614322	WWOX	51741	HP:0000640	Gaze-evoked nystagmus
OMIM:614322	WWOX	51741	HP:0001263	Global developmental delay
OMIM:614322	WWOX	51741	HP:0000252	Microcephaly
OMIM:614322	WWOX	51741	HP:0001272	Cerebellar atrophy
OMIM:614322	WWOX	51741	HP:0001257	Spasticity
OMIM:614322	WWOX	51741	HP:0002066	Gait ataxia
OMIM:614322	WWOX	51741	HP:0001249	Intellectual disability
OMIM:614322	WWOX	51741	HP:0002070	Limb ataxia
OMIM:614322	WWOX	51741	HP:0001250	Seizures
OMIM:614322	WWOX	51741	HP:0001260	Dysarthria
OMIM:614322	WWOX	51741	HP:0003487	Babinski sign
OMIM:614322	WWOX	51741	HP:0001510	Growth delay
OMIM:614322	WWOX	51741	HP:0000648	Optic atrophy
OMIM:614322	WWOX	51741	HP:0000007	Autosomal recessive inheritance
OMIM:614322	WWOX	51741	HP:0001265	Hyporeflexia
OMIM:613697	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:613697	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:613697	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:613697	TPM1	7168	HP:0001279	Syncope
OMIM:613697	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:613697	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:613697	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:613697	CRYAB	1410	HP:0001279	Syncope
OMIM:613697	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:613697	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613697	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:613697	ACTC1	70	HP:0001279	Syncope
OMIM:613697	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:613697	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:613697	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:613697	RAF1	5894	HP:0001279	Syncope
OMIM:613697	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:613697	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613697	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:613697	GATAD1	57798	HP:0001279	Syncope
OMIM:613697	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:613697	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:613697	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:613697	LAMA4	3910	HP:0001279	Syncope
OMIM:613697	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:613697	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613697	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:613697	TMPO	7112	HP:0001279	Syncope
OMIM:613697	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:613697	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:613697	DES	1674	HP:0001635	Congestive heart failure
OMIM:613697	DES	1674	HP:0001279	Syncope
OMIM:613697	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:613697	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:613697	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:613697	ABCC9	10060	HP:0001279	Syncope
OMIM:613697	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:613697	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:613697	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:613697	MYH6	4624	HP:0001279	Syncope
OMIM:613697	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:613697	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613697	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:613697	MYH7	4625	HP:0001279	Syncope
OMIM:613697	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:613697	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:613697	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:613697	LDB3	11155	HP:0001279	Syncope
OMIM:613697	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:613697	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:613697	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:613697	ACTN2	88	HP:0001279	Syncope
OMIM:613697	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:613697	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:613697	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:613697	TXNRD2	10587	HP:0001279	Syncope
OMIM:613697	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:613697	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:613697	DMD	1756	HP:0001635	Congestive heart failure
OMIM:613697	DMD	1756	HP:0001279	Syncope
OMIM:613697	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:613697	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:613697	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:613697	TNNC1	7134	HP:0001279	Syncope
OMIM:613697	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:613697	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613697	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:613697	PSEN1	5663	HP:0001279	Syncope
OMIM:613697	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:613697	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:613697	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:613697	PSEN2	5664	HP:0001279	Syncope
OMIM:613697	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:613697	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:613697	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:613697	TNNI3	7137	HP:0001279	Syncope
OMIM:613697	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:613697	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:613697	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:613697	FHL2	2274	HP:0001279	Syncope
OMIM:613697	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:613697	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:613697	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:613697	TNNT2	7139	HP:0001279	Syncope
OMIM:613697	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:613697	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:613697	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:613697	DSG2	1829	HP:0001279	Syncope
OMIM:613697	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:613697	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:613697	PLN	5350	HP:0001635	Congestive heart failure
OMIM:613697	PLN	5350	HP:0001279	Syncope
OMIM:613697	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:613697	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:613697	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:613697	PRDM16	63976	HP:0001279	Syncope
OMIM:613697	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:613697	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613697	TTN	7273	HP:0001635	Congestive heart failure
OMIM:613697	TTN	7273	HP:0001279	Syncope
OMIM:613697	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:613697	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:613697	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:613697	NEXN	91624	HP:0001279	Syncope
OMIM:613697	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:613697	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:613697	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:613697	FKTN	2218	HP:0001279	Syncope
OMIM:613697	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:613697	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:613697	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:613697	SGCD	6444	HP:0001279	Syncope
OMIM:613697	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:613697	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:613697	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:613697	TCAP	8557	HP:0001279	Syncope
OMIM:613697	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:613697	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:613697	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:613697	CSRP3	8048	HP:0001279	Syncope
OMIM:613697	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:613697	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:613697	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:613697	RBM20	282996	HP:0001279	Syncope
OMIM:613697	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:613697	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:613697	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:613697	SDHA	6389	HP:0001279	Syncope
OMIM:613697	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:613697	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:613697	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:613697	TAZ	6901	HP:0001279	Syncope
OMIM:613697	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:613697	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:613697	VCL	7414	HP:0001635	Congestive heart failure
OMIM:613697	VCL	7414	HP:0001279	Syncope
OMIM:613697	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:613697	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:613697	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:613697	MYPN	84665	HP:0001279	Syncope
OMIM:613697	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613697	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:613697	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:613697	SCN5A	6331	HP:0001279	Syncope
OMIM:613697	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:613697	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:613697	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:613697	BAG3	9531	HP:0001279	Syncope
OMIM:613697	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:613697	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:613697	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:613697	DOLK	22845	HP:0001279	Syncope
OMIM:613697	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:613697	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:613697	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:613697	MYBPC3	4607	HP:0001279	Syncope
OMIM:616394	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:616394	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:616394	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:616394	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:616394	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:616394	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:616394	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:616394	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:616394	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:616394	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:616394	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:616394	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:616394	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:616394	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	EYS	346007	HP:0000543	Optic disc pallor
OMIM:616394	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	MAK	4117	HP:0000543	Optic disc pallor
OMIM:616394	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	SAG	6295	HP:0000543	Optic disc pallor
OMIM:616394	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:616394	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:616394	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:616394	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:616394	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:616394	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:616394	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	NRL	4901	HP:0000543	Optic disc pallor
OMIM:616394	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:616394	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:616394	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:616394	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:616394	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:616394	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:616394	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:616394	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:616394	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:616394	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:616394	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:616394	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:616394	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:616394	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	BBS2	583	HP:0000543	Optic disc pallor
OMIM:616394	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:616394	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:616394	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:616394	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:616394	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:616394	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	RP9	6100	HP:0000543	Optic disc pallor
OMIM:616394	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:616394	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	RP1	6101	HP:0000543	Optic disc pallor
OMIM:616394	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	RP2	6102	HP:0000543	Optic disc pallor
OMIM:616394	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:616394	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:616394	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:616394	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:616394	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:616394	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:616394	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:616394	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:616394	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:616394	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:616394	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:616394	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	RGR	5995	HP:0000543	Optic disc pallor
OMIM:616394	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:616394	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	TUB	7275	HP:0000543	Optic disc pallor
OMIM:616394	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:616394	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:616394	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:616394	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	RHO	6010	HP:0000543	Optic disc pallor
OMIM:616394	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	CA4	762	HP:0000543	Optic disc pallor
OMIM:616394	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:616394	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:616394	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:616394	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	CRX	1406	HP:0000543	Optic disc pallor
OMIM:600901	FANCC	2176	HP:0000028	Cryptorchidism
OMIM:600901	FANCC	2176	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	FANCC	2176	HP:0004322	Short stature
OMIM:600901	FANCC	2176	HP:0001873	Thrombocytopenia
OMIM:600901	FANCC	2176	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	FANCC	2176	HP:0000978	Bruising susceptibility
OMIM:600901	FANCC	2176	HP:0001875	Neutropenia
OMIM:600901	FANCC	2176	HP:0000081	Duplicated collecting system
OMIM:600901	FANCC	2176	HP:0000957	Cafe-au-lait spot
OMIM:600901	FANCC	2176	HP:0000085	Horseshoe kidney
OMIM:600901	FANCC	2176	HP:0009777	Absent thumb
OMIM:600901	FANCC	2176	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	FANCC	2176	HP:0000568	Microphthalmia
OMIM:600901	FANCC	2176	HP:0009778	Short thumb
OMIM:600901	FANCC	2176	HP:0001249	Intellectual disability
OMIM:600901	FANCC	2176	HP:0001903	Anemia
OMIM:600901	FANCC	2176	HP:0001896	Reticulocytopenia
OMIM:600901	FANCC	2176	HP:0000086	Ectopic kidney
OMIM:600901	FANCC	2176	HP:0001876	Pancytopenia
OMIM:600901	FANCC	2176	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	FANCC	2176	HP:0000104	Renal agenesis
OMIM:600901	FANCC	2176	HP:0000252	Microcephaly
OMIM:600901	FANCC	2176	HP:0000365	Hearing impairment
OMIM:600901	FANCC	2176	HP:0003974	Absent radius
OMIM:600901	FANCC	2176	HP:0001017	Anemic pallor
OMIM:600901	FANCC	2176	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	FANCC	2176	HP:0000486	Strabismus
OMIM:600901	FANCC	2176	HP:0001909	Leukemia
OMIM:600901	FANCC	2176	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	FANCC	2176	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	FANCC	2176	HP:0001518	Small for gestational age
OMIM:600901	FANCD2	2177	HP:0000028	Cryptorchidism
OMIM:600901	FANCD2	2177	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	FANCD2	2177	HP:0004322	Short stature
OMIM:600901	FANCD2	2177	HP:0001873	Thrombocytopenia
OMIM:600901	FANCD2	2177	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	FANCD2	2177	HP:0000978	Bruising susceptibility
OMIM:600901	FANCD2	2177	HP:0001875	Neutropenia
OMIM:600901	FANCD2	2177	HP:0000081	Duplicated collecting system
OMIM:600901	FANCD2	2177	HP:0000957	Cafe-au-lait spot
OMIM:600901	FANCD2	2177	HP:0000085	Horseshoe kidney
OMIM:600901	FANCD2	2177	HP:0009777	Absent thumb
OMIM:600901	FANCD2	2177	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	FANCD2	2177	HP:0000568	Microphthalmia
OMIM:600901	FANCD2	2177	HP:0009778	Short thumb
OMIM:600901	FANCD2	2177	HP:0001249	Intellectual disability
OMIM:600901	FANCD2	2177	HP:0001903	Anemia
OMIM:600901	FANCD2	2177	HP:0001896	Reticulocytopenia
OMIM:600901	FANCD2	2177	HP:0000086	Ectopic kidney
OMIM:600901	FANCD2	2177	HP:0001876	Pancytopenia
OMIM:600901	FANCD2	2177	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	FANCD2	2177	HP:0000104	Renal agenesis
OMIM:600901	FANCD2	2177	HP:0000252	Microcephaly
OMIM:600901	FANCD2	2177	HP:0000365	Hearing impairment
OMIM:600901	FANCD2	2177	HP:0003974	Absent radius
OMIM:600901	FANCD2	2177	HP:0001017	Anemic pallor
OMIM:600901	FANCD2	2177	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	FANCD2	2177	HP:0000486	Strabismus
OMIM:600901	FANCD2	2177	HP:0001909	Leukemia
OMIM:600901	FANCD2	2177	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	FANCD2	2177	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	FANCD2	2177	HP:0001518	Small for gestational age
OMIM:600901	FANCM	57697	HP:0000028	Cryptorchidism
OMIM:600901	FANCM	57697	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	FANCM	57697	HP:0004322	Short stature
OMIM:600901	FANCM	57697	HP:0001873	Thrombocytopenia
OMIM:600901	FANCM	57697	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	FANCM	57697	HP:0000978	Bruising susceptibility
OMIM:600901	FANCM	57697	HP:0001875	Neutropenia
OMIM:600901	FANCM	57697	HP:0000081	Duplicated collecting system
OMIM:600901	FANCM	57697	HP:0000957	Cafe-au-lait spot
OMIM:600901	FANCM	57697	HP:0000085	Horseshoe kidney
OMIM:600901	FANCM	57697	HP:0009777	Absent thumb
OMIM:600901	FANCM	57697	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	FANCM	57697	HP:0000568	Microphthalmia
OMIM:600901	FANCM	57697	HP:0009778	Short thumb
OMIM:600901	FANCM	57697	HP:0001249	Intellectual disability
OMIM:600901	FANCM	57697	HP:0001903	Anemia
OMIM:600901	FANCM	57697	HP:0001896	Reticulocytopenia
OMIM:600901	FANCM	57697	HP:0000086	Ectopic kidney
OMIM:600901	FANCM	57697	HP:0001876	Pancytopenia
OMIM:600901	FANCM	57697	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	FANCM	57697	HP:0000104	Renal agenesis
OMIM:600901	FANCM	57697	HP:0000252	Microcephaly
OMIM:600901	FANCM	57697	HP:0000365	Hearing impairment
OMIM:600901	FANCM	57697	HP:0003974	Absent radius
OMIM:600901	FANCM	57697	HP:0001017	Anemic pallor
OMIM:600901	FANCM	57697	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	FANCM	57697	HP:0000486	Strabismus
OMIM:600901	FANCM	57697	HP:0001909	Leukemia
OMIM:600901	FANCM	57697	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	FANCM	57697	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	FANCM	57697	HP:0001518	Small for gestational age
OMIM:600901	RAD51C	5889	HP:0000028	Cryptorchidism
OMIM:600901	RAD51C	5889	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	RAD51C	5889	HP:0004322	Short stature
OMIM:600901	RAD51C	5889	HP:0001873	Thrombocytopenia
OMIM:600901	RAD51C	5889	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	RAD51C	5889	HP:0000978	Bruising susceptibility
OMIM:600901	RAD51C	5889	HP:0001875	Neutropenia
OMIM:600901	RAD51C	5889	HP:0000081	Duplicated collecting system
OMIM:600901	RAD51C	5889	HP:0000957	Cafe-au-lait spot
OMIM:600901	RAD51C	5889	HP:0000085	Horseshoe kidney
OMIM:600901	RAD51C	5889	HP:0009777	Absent thumb
OMIM:600901	RAD51C	5889	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	RAD51C	5889	HP:0000568	Microphthalmia
OMIM:600901	RAD51C	5889	HP:0009778	Short thumb
OMIM:600901	RAD51C	5889	HP:0001249	Intellectual disability
OMIM:600901	RAD51C	5889	HP:0001903	Anemia
OMIM:600901	RAD51C	5889	HP:0001896	Reticulocytopenia
OMIM:600901	RAD51C	5889	HP:0000086	Ectopic kidney
OMIM:600901	RAD51C	5889	HP:0001876	Pancytopenia
OMIM:600901	RAD51C	5889	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	RAD51C	5889	HP:0000104	Renal agenesis
OMIM:600901	RAD51C	5889	HP:0000252	Microcephaly
OMIM:600901	RAD51C	5889	HP:0000365	Hearing impairment
OMIM:600901	RAD51C	5889	HP:0003974	Absent radius
OMIM:600901	RAD51C	5889	HP:0001017	Anemic pallor
OMIM:600901	RAD51C	5889	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	RAD51C	5889	HP:0000486	Strabismus
OMIM:600901	RAD51C	5889	HP:0001909	Leukemia
OMIM:600901	RAD51C	5889	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	RAD51C	5889	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	RAD51C	5889	HP:0001518	Small for gestational age
OMIM:600901	UBE2T	29089	HP:0000028	Cryptorchidism
OMIM:600901	UBE2T	29089	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	UBE2T	29089	HP:0004322	Short stature
OMIM:600901	UBE2T	29089	HP:0001873	Thrombocytopenia
OMIM:600901	UBE2T	29089	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	UBE2T	29089	HP:0000978	Bruising susceptibility
OMIM:600901	UBE2T	29089	HP:0001875	Neutropenia
OMIM:600901	UBE2T	29089	HP:0000081	Duplicated collecting system
OMIM:600901	UBE2T	29089	HP:0000957	Cafe-au-lait spot
OMIM:600901	UBE2T	29089	HP:0000085	Horseshoe kidney
OMIM:600901	UBE2T	29089	HP:0009777	Absent thumb
OMIM:600901	UBE2T	29089	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	UBE2T	29089	HP:0000568	Microphthalmia
OMIM:600901	UBE2T	29089	HP:0009778	Short thumb
OMIM:600901	UBE2T	29089	HP:0001249	Intellectual disability
OMIM:600901	UBE2T	29089	HP:0001903	Anemia
OMIM:600901	UBE2T	29089	HP:0001896	Reticulocytopenia
OMIM:600901	UBE2T	29089	HP:0000086	Ectopic kidney
OMIM:600901	UBE2T	29089	HP:0001876	Pancytopenia
OMIM:600901	UBE2T	29089	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	UBE2T	29089	HP:0000104	Renal agenesis
OMIM:600901	UBE2T	29089	HP:0000252	Microcephaly
OMIM:600901	UBE2T	29089	HP:0000365	Hearing impairment
OMIM:600901	UBE2T	29089	HP:0003974	Absent radius
OMIM:600901	UBE2T	29089	HP:0001017	Anemic pallor
OMIM:600901	UBE2T	29089	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	UBE2T	29089	HP:0000486	Strabismus
OMIM:600901	UBE2T	29089	HP:0001909	Leukemia
OMIM:600901	UBE2T	29089	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	UBE2T	29089	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	UBE2T	29089	HP:0001518	Small for gestational age
OMIM:600901	FANCE	2178	HP:0000028	Cryptorchidism
OMIM:600901	FANCE	2178	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	FANCE	2178	HP:0004322	Short stature
OMIM:600901	FANCE	2178	HP:0001873	Thrombocytopenia
OMIM:600901	FANCE	2178	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	FANCE	2178	HP:0000978	Bruising susceptibility
OMIM:600901	FANCE	2178	HP:0001875	Neutropenia
OMIM:600901	FANCE	2178	HP:0000081	Duplicated collecting system
OMIM:600901	FANCE	2178	HP:0000957	Cafe-au-lait spot
OMIM:600901	FANCE	2178	HP:0000085	Horseshoe kidney
OMIM:600901	FANCE	2178	HP:0009777	Absent thumb
OMIM:600901	FANCE	2178	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	FANCE	2178	HP:0000568	Microphthalmia
OMIM:600901	FANCE	2178	HP:0009778	Short thumb
OMIM:600901	FANCE	2178	HP:0001249	Intellectual disability
OMIM:600901	FANCE	2178	HP:0001903	Anemia
OMIM:600901	FANCE	2178	HP:0001896	Reticulocytopenia
OMIM:600901	FANCE	2178	HP:0000086	Ectopic kidney
OMIM:600901	FANCE	2178	HP:0001876	Pancytopenia
OMIM:600901	FANCE	2178	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	FANCE	2178	HP:0000104	Renal agenesis
OMIM:600901	FANCE	2178	HP:0000252	Microcephaly
OMIM:600901	FANCE	2178	HP:0000365	Hearing impairment
OMIM:600901	FANCE	2178	HP:0003974	Absent radius
OMIM:600901	FANCE	2178	HP:0001017	Anemic pallor
OMIM:600901	FANCE	2178	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	FANCE	2178	HP:0000486	Strabismus
OMIM:600901	FANCE	2178	HP:0001909	Leukemia
OMIM:600901	FANCE	2178	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	FANCE	2178	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	FANCE	2178	HP:0001518	Small for gestational age
OMIM:600901	BRCA2	675	HP:0000028	Cryptorchidism
OMIM:600901	BRCA2	675	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	BRCA2	675	HP:0004322	Short stature
OMIM:600901	BRCA2	675	HP:0001873	Thrombocytopenia
OMIM:600901	BRCA2	675	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	BRCA2	675	HP:0000978	Bruising susceptibility
OMIM:600901	BRCA2	675	HP:0001875	Neutropenia
OMIM:600901	BRCA2	675	HP:0000081	Duplicated collecting system
OMIM:600901	BRCA2	675	HP:0000957	Cafe-au-lait spot
OMIM:600901	BRCA2	675	HP:0000085	Horseshoe kidney
OMIM:600901	BRCA2	675	HP:0009777	Absent thumb
OMIM:600901	BRCA2	675	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	BRCA2	675	HP:0000568	Microphthalmia
OMIM:600901	BRCA2	675	HP:0009778	Short thumb
OMIM:600901	BRCA2	675	HP:0001249	Intellectual disability
OMIM:600901	BRCA2	675	HP:0001903	Anemia
OMIM:600901	BRCA2	675	HP:0001896	Reticulocytopenia
OMIM:600901	BRCA2	675	HP:0000086	Ectopic kidney
OMIM:600901	BRCA2	675	HP:0001876	Pancytopenia
OMIM:600901	BRCA2	675	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	BRCA2	675	HP:0000104	Renal agenesis
OMIM:600901	BRCA2	675	HP:0000252	Microcephaly
OMIM:600901	BRCA2	675	HP:0000365	Hearing impairment
OMIM:600901	BRCA2	675	HP:0003974	Absent radius
OMIM:600901	BRCA2	675	HP:0001017	Anemic pallor
OMIM:600901	BRCA2	675	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	BRCA2	675	HP:0000486	Strabismus
OMIM:600901	BRCA2	675	HP:0001909	Leukemia
OMIM:600901	BRCA2	675	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	BRCA2	675	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	BRCA2	675	HP:0001518	Small for gestational age
OMIM:600901	FANCB	2187	HP:0000028	Cryptorchidism
OMIM:600901	FANCB	2187	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	FANCB	2187	HP:0004322	Short stature
OMIM:600901	FANCB	2187	HP:0001873	Thrombocytopenia
OMIM:600901	FANCB	2187	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	FANCB	2187	HP:0000978	Bruising susceptibility
OMIM:600901	FANCB	2187	HP:0001875	Neutropenia
OMIM:600901	FANCB	2187	HP:0000081	Duplicated collecting system
OMIM:600901	FANCB	2187	HP:0000957	Cafe-au-lait spot
OMIM:600901	FANCB	2187	HP:0000085	Horseshoe kidney
OMIM:600901	FANCB	2187	HP:0009777	Absent thumb
OMIM:600901	FANCB	2187	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	FANCB	2187	HP:0000568	Microphthalmia
OMIM:600901	FANCB	2187	HP:0009778	Short thumb
OMIM:600901	FANCB	2187	HP:0001249	Intellectual disability
OMIM:600901	FANCB	2187	HP:0001903	Anemia
OMIM:600901	FANCB	2187	HP:0001896	Reticulocytopenia
OMIM:600901	FANCB	2187	HP:0000086	Ectopic kidney
OMIM:600901	FANCB	2187	HP:0001876	Pancytopenia
OMIM:600901	FANCB	2187	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	FANCB	2187	HP:0000104	Renal agenesis
OMIM:600901	FANCB	2187	HP:0000252	Microcephaly
OMIM:600901	FANCB	2187	HP:0000365	Hearing impairment
OMIM:600901	FANCB	2187	HP:0003974	Absent radius
OMIM:600901	FANCB	2187	HP:0001017	Anemic pallor
OMIM:600901	FANCB	2187	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	FANCB	2187	HP:0000486	Strabismus
OMIM:600901	FANCB	2187	HP:0001909	Leukemia
OMIM:600901	FANCB	2187	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	FANCB	2187	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	FANCB	2187	HP:0001518	Small for gestational age
OMIM:600901	FANCF	2188	HP:0000028	Cryptorchidism
OMIM:600901	FANCF	2188	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	FANCF	2188	HP:0004322	Short stature
OMIM:600901	FANCF	2188	HP:0001873	Thrombocytopenia
OMIM:600901	FANCF	2188	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	FANCF	2188	HP:0000978	Bruising susceptibility
OMIM:600901	FANCF	2188	HP:0001875	Neutropenia
OMIM:600901	FANCF	2188	HP:0000081	Duplicated collecting system
OMIM:600901	FANCF	2188	HP:0000957	Cafe-au-lait spot
OMIM:600901	FANCF	2188	HP:0000085	Horseshoe kidney
OMIM:600901	FANCF	2188	HP:0009777	Absent thumb
OMIM:600901	FANCF	2188	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	FANCF	2188	HP:0000568	Microphthalmia
OMIM:600901	FANCF	2188	HP:0009778	Short thumb
OMIM:600901	FANCF	2188	HP:0001249	Intellectual disability
OMIM:600901	FANCF	2188	HP:0001903	Anemia
OMIM:600901	FANCF	2188	HP:0001896	Reticulocytopenia
OMIM:600901	FANCF	2188	HP:0000086	Ectopic kidney
OMIM:600901	FANCF	2188	HP:0001876	Pancytopenia
OMIM:600901	FANCF	2188	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	FANCF	2188	HP:0000104	Renal agenesis
OMIM:600901	FANCF	2188	HP:0000252	Microcephaly
OMIM:600901	FANCF	2188	HP:0000365	Hearing impairment
OMIM:600901	FANCF	2188	HP:0003974	Absent radius
OMIM:600901	FANCF	2188	HP:0001017	Anemic pallor
OMIM:600901	FANCF	2188	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	FANCF	2188	HP:0000486	Strabismus
OMIM:600901	FANCF	2188	HP:0001909	Leukemia
OMIM:600901	FANCF	2188	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	FANCF	2188	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	FANCF	2188	HP:0001518	Small for gestational age
OMIM:600901	FANCG	2189	HP:0000028	Cryptorchidism
OMIM:600901	FANCG	2189	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	FANCG	2189	HP:0004322	Short stature
OMIM:600901	FANCG	2189	HP:0001873	Thrombocytopenia
OMIM:600901	FANCG	2189	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	FANCG	2189	HP:0000978	Bruising susceptibility
OMIM:600901	FANCG	2189	HP:0001875	Neutropenia
OMIM:600901	FANCG	2189	HP:0000081	Duplicated collecting system
OMIM:600901	FANCG	2189	HP:0000957	Cafe-au-lait spot
OMIM:600901	FANCG	2189	HP:0000085	Horseshoe kidney
OMIM:600901	FANCG	2189	HP:0009777	Absent thumb
OMIM:600901	FANCG	2189	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	FANCG	2189	HP:0000568	Microphthalmia
OMIM:600901	FANCG	2189	HP:0009778	Short thumb
OMIM:600901	FANCG	2189	HP:0001249	Intellectual disability
OMIM:600901	FANCG	2189	HP:0001903	Anemia
OMIM:600901	FANCG	2189	HP:0001896	Reticulocytopenia
OMIM:600901	FANCG	2189	HP:0000086	Ectopic kidney
OMIM:600901	FANCG	2189	HP:0001876	Pancytopenia
OMIM:600901	FANCG	2189	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	FANCG	2189	HP:0000104	Renal agenesis
OMIM:600901	FANCG	2189	HP:0000252	Microcephaly
OMIM:600901	FANCG	2189	HP:0000365	Hearing impairment
OMIM:600901	FANCG	2189	HP:0003974	Absent radius
OMIM:600901	FANCG	2189	HP:0001017	Anemic pallor
OMIM:600901	FANCG	2189	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	FANCG	2189	HP:0000486	Strabismus
OMIM:600901	FANCG	2189	HP:0001909	Leukemia
OMIM:600901	FANCG	2189	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	FANCG	2189	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	FANCG	2189	HP:0001518	Small for gestational age
OMIM:600901	FANCI	55215	HP:0000028	Cryptorchidism
OMIM:600901	FANCI	55215	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	FANCI	55215	HP:0004322	Short stature
OMIM:600901	FANCI	55215	HP:0001873	Thrombocytopenia
OMIM:600901	FANCI	55215	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	FANCI	55215	HP:0000978	Bruising susceptibility
OMIM:600901	FANCI	55215	HP:0001875	Neutropenia
OMIM:600901	FANCI	55215	HP:0000081	Duplicated collecting system
OMIM:600901	FANCI	55215	HP:0000957	Cafe-au-lait spot
OMIM:600901	FANCI	55215	HP:0000085	Horseshoe kidney
OMIM:600901	FANCI	55215	HP:0009777	Absent thumb
OMIM:600901	FANCI	55215	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	FANCI	55215	HP:0000568	Microphthalmia
OMIM:600901	FANCI	55215	HP:0009778	Short thumb
OMIM:600901	FANCI	55215	HP:0001249	Intellectual disability
OMIM:600901	FANCI	55215	HP:0001903	Anemia
OMIM:600901	FANCI	55215	HP:0001896	Reticulocytopenia
OMIM:600901	FANCI	55215	HP:0000086	Ectopic kidney
OMIM:600901	FANCI	55215	HP:0001876	Pancytopenia
OMIM:600901	FANCI	55215	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	FANCI	55215	HP:0000104	Renal agenesis
OMIM:600901	FANCI	55215	HP:0000252	Microcephaly
OMIM:600901	FANCI	55215	HP:0000365	Hearing impairment
OMIM:600901	FANCI	55215	HP:0003974	Absent radius
OMIM:600901	FANCI	55215	HP:0001017	Anemic pallor
OMIM:600901	FANCI	55215	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	FANCI	55215	HP:0000486	Strabismus
OMIM:600901	FANCI	55215	HP:0001909	Leukemia
OMIM:600901	FANCI	55215	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	FANCI	55215	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	FANCI	55215	HP:0001518	Small for gestational age
OMIM:600901	FANCL	55120	HP:0000028	Cryptorchidism
OMIM:600901	FANCL	55120	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	FANCL	55120	HP:0004322	Short stature
OMIM:600901	FANCL	55120	HP:0001873	Thrombocytopenia
OMIM:600901	FANCL	55120	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	FANCL	55120	HP:0000978	Bruising susceptibility
OMIM:600901	FANCL	55120	HP:0001875	Neutropenia
OMIM:600901	FANCL	55120	HP:0000081	Duplicated collecting system
OMIM:600901	FANCL	55120	HP:0000957	Cafe-au-lait spot
OMIM:600901	FANCL	55120	HP:0000085	Horseshoe kidney
OMIM:600901	FANCL	55120	HP:0009777	Absent thumb
OMIM:600901	FANCL	55120	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	FANCL	55120	HP:0000568	Microphthalmia
OMIM:600901	FANCL	55120	HP:0009778	Short thumb
OMIM:600901	FANCL	55120	HP:0001249	Intellectual disability
OMIM:600901	FANCL	55120	HP:0001903	Anemia
OMIM:600901	FANCL	55120	HP:0001896	Reticulocytopenia
OMIM:600901	FANCL	55120	HP:0000086	Ectopic kidney
OMIM:600901	FANCL	55120	HP:0001876	Pancytopenia
OMIM:600901	FANCL	55120	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	FANCL	55120	HP:0000104	Renal agenesis
OMIM:600901	FANCL	55120	HP:0000252	Microcephaly
OMIM:600901	FANCL	55120	HP:0000365	Hearing impairment
OMIM:600901	FANCL	55120	HP:0003974	Absent radius
OMIM:600901	FANCL	55120	HP:0001017	Anemic pallor
OMIM:600901	FANCL	55120	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	FANCL	55120	HP:0000486	Strabismus
OMIM:600901	FANCL	55120	HP:0001909	Leukemia
OMIM:600901	FANCL	55120	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	FANCL	55120	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	FANCL	55120	HP:0001518	Small for gestational age
OMIM:600901	PALB2	79728	HP:0000028	Cryptorchidism
OMIM:600901	PALB2	79728	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	PALB2	79728	HP:0004322	Short stature
OMIM:600901	PALB2	79728	HP:0001873	Thrombocytopenia
OMIM:600901	PALB2	79728	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	PALB2	79728	HP:0000978	Bruising susceptibility
OMIM:600901	PALB2	79728	HP:0001875	Neutropenia
OMIM:600901	PALB2	79728	HP:0000081	Duplicated collecting system
OMIM:600901	PALB2	79728	HP:0000957	Cafe-au-lait spot
OMIM:600901	PALB2	79728	HP:0000085	Horseshoe kidney
OMIM:600901	PALB2	79728	HP:0009777	Absent thumb
OMIM:600901	PALB2	79728	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	PALB2	79728	HP:0000568	Microphthalmia
OMIM:600901	PALB2	79728	HP:0009778	Short thumb
OMIM:600901	PALB2	79728	HP:0001249	Intellectual disability
OMIM:600901	PALB2	79728	HP:0001903	Anemia
OMIM:600901	PALB2	79728	HP:0001896	Reticulocytopenia
OMIM:600901	PALB2	79728	HP:0000086	Ectopic kidney
OMIM:600901	PALB2	79728	HP:0001876	Pancytopenia
OMIM:600901	PALB2	79728	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	PALB2	79728	HP:0000104	Renal agenesis
OMIM:600901	PALB2	79728	HP:0000252	Microcephaly
OMIM:600901	PALB2	79728	HP:0000365	Hearing impairment
OMIM:600901	PALB2	79728	HP:0003974	Absent radius
OMIM:600901	PALB2	79728	HP:0001017	Anemic pallor
OMIM:600901	PALB2	79728	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	PALB2	79728	HP:0000486	Strabismus
OMIM:600901	PALB2	79728	HP:0001909	Leukemia
OMIM:600901	PALB2	79728	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	PALB2	79728	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	PALB2	79728	HP:0001518	Small for gestational age
OMIM:600901	SLX4	84464	HP:0000028	Cryptorchidism
OMIM:600901	SLX4	84464	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	SLX4	84464	HP:0004322	Short stature
OMIM:600901	SLX4	84464	HP:0001873	Thrombocytopenia
OMIM:600901	SLX4	84464	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	SLX4	84464	HP:0000978	Bruising susceptibility
OMIM:600901	SLX4	84464	HP:0001875	Neutropenia
OMIM:600901	SLX4	84464	HP:0000081	Duplicated collecting system
OMIM:600901	SLX4	84464	HP:0000957	Cafe-au-lait spot
OMIM:600901	SLX4	84464	HP:0000085	Horseshoe kidney
OMIM:600901	SLX4	84464	HP:0009777	Absent thumb
OMIM:600901	SLX4	84464	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	SLX4	84464	HP:0000568	Microphthalmia
OMIM:600901	SLX4	84464	HP:0009778	Short thumb
OMIM:600901	SLX4	84464	HP:0001249	Intellectual disability
OMIM:600901	SLX4	84464	HP:0001903	Anemia
OMIM:600901	SLX4	84464	HP:0001896	Reticulocytopenia
OMIM:600901	SLX4	84464	HP:0000086	Ectopic kidney
OMIM:600901	SLX4	84464	HP:0001876	Pancytopenia
OMIM:600901	SLX4	84464	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	SLX4	84464	HP:0000104	Renal agenesis
OMIM:600901	SLX4	84464	HP:0000252	Microcephaly
OMIM:600901	SLX4	84464	HP:0000365	Hearing impairment
OMIM:600901	SLX4	84464	HP:0003974	Absent radius
OMIM:600901	SLX4	84464	HP:0001017	Anemic pallor
OMIM:600901	SLX4	84464	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	SLX4	84464	HP:0000486	Strabismus
OMIM:600901	SLX4	84464	HP:0001909	Leukemia
OMIM:600901	SLX4	84464	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	SLX4	84464	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	SLX4	84464	HP:0001518	Small for gestational age
OMIM:600901	BRIP1	83990	HP:0000028	Cryptorchidism
OMIM:600901	BRIP1	83990	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	BRIP1	83990	HP:0004322	Short stature
OMIM:600901	BRIP1	83990	HP:0001873	Thrombocytopenia
OMIM:600901	BRIP1	83990	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	BRIP1	83990	HP:0000978	Bruising susceptibility
OMIM:600901	BRIP1	83990	HP:0001875	Neutropenia
OMIM:600901	BRIP1	83990	HP:0000081	Duplicated collecting system
OMIM:600901	BRIP1	83990	HP:0000957	Cafe-au-lait spot
OMIM:600901	BRIP1	83990	HP:0000085	Horseshoe kidney
OMIM:600901	BRIP1	83990	HP:0009777	Absent thumb
OMIM:600901	BRIP1	83990	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	BRIP1	83990	HP:0000568	Microphthalmia
OMIM:600901	BRIP1	83990	HP:0009778	Short thumb
OMIM:600901	BRIP1	83990	HP:0001249	Intellectual disability
OMIM:600901	BRIP1	83990	HP:0001903	Anemia
OMIM:600901	BRIP1	83990	HP:0001896	Reticulocytopenia
OMIM:600901	BRIP1	83990	HP:0000086	Ectopic kidney
OMIM:600901	BRIP1	83990	HP:0001876	Pancytopenia
OMIM:600901	BRIP1	83990	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	BRIP1	83990	HP:0000104	Renal agenesis
OMIM:600901	BRIP1	83990	HP:0000252	Microcephaly
OMIM:600901	BRIP1	83990	HP:0000365	Hearing impairment
OMIM:600901	BRIP1	83990	HP:0003974	Absent radius
OMIM:600901	BRIP1	83990	HP:0001017	Anemic pallor
OMIM:600901	BRIP1	83990	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	BRIP1	83990	HP:0000486	Strabismus
OMIM:600901	BRIP1	83990	HP:0001909	Leukemia
OMIM:600901	BRIP1	83990	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	BRIP1	83990	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	BRIP1	83990	HP:0001518	Small for gestational age
OMIM:600901	ERCC4	2072	HP:0000028	Cryptorchidism
OMIM:600901	ERCC4	2072	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	ERCC4	2072	HP:0004322	Short stature
OMIM:600901	ERCC4	2072	HP:0001873	Thrombocytopenia
OMIM:600901	ERCC4	2072	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	ERCC4	2072	HP:0000978	Bruising susceptibility
OMIM:600901	ERCC4	2072	HP:0001875	Neutropenia
OMIM:600901	ERCC4	2072	HP:0000081	Duplicated collecting system
OMIM:600901	ERCC4	2072	HP:0000957	Cafe-au-lait spot
OMIM:600901	ERCC4	2072	HP:0000085	Horseshoe kidney
OMIM:600901	ERCC4	2072	HP:0009777	Absent thumb
OMIM:600901	ERCC4	2072	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	ERCC4	2072	HP:0000568	Microphthalmia
OMIM:600901	ERCC4	2072	HP:0009778	Short thumb
OMIM:600901	ERCC4	2072	HP:0001249	Intellectual disability
OMIM:600901	ERCC4	2072	HP:0001903	Anemia
OMIM:600901	ERCC4	2072	HP:0001896	Reticulocytopenia
OMIM:600901	ERCC4	2072	HP:0000086	Ectopic kidney
OMIM:600901	ERCC4	2072	HP:0001876	Pancytopenia
OMIM:600901	ERCC4	2072	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	ERCC4	2072	HP:0000104	Renal agenesis
OMIM:600901	ERCC4	2072	HP:0000252	Microcephaly
OMIM:600901	ERCC4	2072	HP:0000365	Hearing impairment
OMIM:600901	ERCC4	2072	HP:0003974	Absent radius
OMIM:600901	ERCC4	2072	HP:0001017	Anemic pallor
OMIM:600901	ERCC4	2072	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	ERCC4	2072	HP:0000486	Strabismus
OMIM:600901	ERCC4	2072	HP:0001909	Leukemia
OMIM:600901	ERCC4	2072	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	ERCC4	2072	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	ERCC4	2072	HP:0001518	Small for gestational age
OMIM:600901	FANCA	2175	HP:0000028	Cryptorchidism
OMIM:600901	FANCA	2175	HP:0001000	Abnormality of skin pigmentation
OMIM:600901	FANCA	2175	HP:0004322	Short stature
OMIM:600901	FANCA	2175	HP:0001873	Thrombocytopenia
OMIM:600901	FANCA	2175	HP:0009943	Complete duplication of thumb phalanx
OMIM:600901	FANCA	2175	HP:0000978	Bruising susceptibility
OMIM:600901	FANCA	2175	HP:0001875	Neutropenia
OMIM:600901	FANCA	2175	HP:0000081	Duplicated collecting system
OMIM:600901	FANCA	2175	HP:0000957	Cafe-au-lait spot
OMIM:600901	FANCA	2175	HP:0000085	Horseshoe kidney
OMIM:600901	FANCA	2175	HP:0009777	Absent thumb
OMIM:600901	FANCA	2175	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:600901	FANCA	2175	HP:0000568	Microphthalmia
OMIM:600901	FANCA	2175	HP:0009778	Short thumb
OMIM:600901	FANCA	2175	HP:0001249	Intellectual disability
OMIM:600901	FANCA	2175	HP:0001903	Anemia
OMIM:600901	FANCA	2175	HP:0001896	Reticulocytopenia
OMIM:600901	FANCA	2175	HP:0000086	Ectopic kidney
OMIM:600901	FANCA	2175	HP:0001876	Pancytopenia
OMIM:600901	FANCA	2175	HP:0000815	Hypergonadotropic hypogonadism
OMIM:600901	FANCA	2175	HP:0000104	Renal agenesis
OMIM:600901	FANCA	2175	HP:0000252	Microcephaly
OMIM:600901	FANCA	2175	HP:0000365	Hearing impairment
OMIM:600901	FANCA	2175	HP:0003974	Absent radius
OMIM:600901	FANCA	2175	HP:0001017	Anemic pallor
OMIM:600901	FANCA	2175	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:600901	FANCA	2175	HP:0000486	Strabismus
OMIM:600901	FANCA	2175	HP:0001909	Leukemia
OMIM:600901	FANCA	2175	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:600901	FANCA	2175	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:600901	FANCA	2175	HP:0001518	Small for gestational age
OMIM:613829	AIPL1	23746	HP:0000613	Photophobia
OMIM:613829	AIPL1	23746	HP:0000505	Visual impairment
OMIM:613829	AIPL1	23746	HP:0000563	Keratoconus
OMIM:613829	AIPL1	23746	HP:0000518	Cataract
OMIM:613829	AIPL1	23746	HP:0000550	Undetectable electroretinogram
OMIM:613829	AIPL1	23746	HP:0012043	Pendular nystagmus
OMIM:613829	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:613829	NMNAT1	64802	HP:0000613	Photophobia
OMIM:613829	NMNAT1	64802	HP:0000505	Visual impairment
OMIM:613829	NMNAT1	64802	HP:0000563	Keratoconus
OMIM:613829	NMNAT1	64802	HP:0000518	Cataract
OMIM:613829	NMNAT1	64802	HP:0000550	Undetectable electroretinogram
OMIM:613829	NMNAT1	64802	HP:0012043	Pendular nystagmus
OMIM:613829	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:613829	SPATA7	55812	HP:0000613	Photophobia
OMIM:613829	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613829	SPATA7	55812	HP:0000563	Keratoconus
OMIM:613829	SPATA7	55812	HP:0000518	Cataract
OMIM:613829	SPATA7	55812	HP:0000550	Undetectable electroretinogram
OMIM:613829	SPATA7	55812	HP:0012043	Pendular nystagmus
OMIM:613829	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613829	RDH12	145226	HP:0000613	Photophobia
OMIM:613829	RDH12	145226	HP:0000505	Visual impairment
OMIM:613829	RDH12	145226	HP:0000563	Keratoconus
OMIM:613829	RDH12	145226	HP:0000518	Cataract
OMIM:613829	RDH12	145226	HP:0000550	Undetectable electroretinogram
OMIM:613829	RDH12	145226	HP:0012043	Pendular nystagmus
OMIM:613829	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613829	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:613829	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:613829	RPGRIP1	57096	HP:0000563	Keratoconus
OMIM:613829	RPGRIP1	57096	HP:0000518	Cataract
OMIM:613829	RPGRIP1	57096	HP:0000550	Undetectable electroretinogram
OMIM:613829	RPGRIP1	57096	HP:0012043	Pendular nystagmus
OMIM:613829	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:613829	RPE65	6121	HP:0000613	Photophobia
OMIM:613829	RPE65	6121	HP:0000505	Visual impairment
OMIM:613829	RPE65	6121	HP:0000563	Keratoconus
OMIM:613829	RPE65	6121	HP:0000518	Cataract
OMIM:613829	RPE65	6121	HP:0000550	Undetectable electroretinogram
OMIM:613829	RPE65	6121	HP:0012043	Pendular nystagmus
OMIM:613829	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613829	LCA5	167691	HP:0000613	Photophobia
OMIM:613829	LCA5	167691	HP:0000505	Visual impairment
OMIM:613829	LCA5	167691	HP:0000563	Keratoconus
OMIM:613829	LCA5	167691	HP:0000518	Cataract
OMIM:613829	LCA5	167691	HP:0000550	Undetectable electroretinogram
OMIM:613829	LCA5	167691	HP:0012043	Pendular nystagmus
OMIM:613829	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:613829	LRAT	9227	HP:0000613	Photophobia
OMIM:613829	LRAT	9227	HP:0000505	Visual impairment
OMIM:613829	LRAT	9227	HP:0000563	Keratoconus
OMIM:613829	LRAT	9227	HP:0000518	Cataract
OMIM:613829	LRAT	9227	HP:0000550	Undetectable electroretinogram
OMIM:613829	LRAT	9227	HP:0012043	Pendular nystagmus
OMIM:613829	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613829	IFT140	9742	HP:0000613	Photophobia
OMIM:613829	IFT140	9742	HP:0000505	Visual impairment
OMIM:613829	IFT140	9742	HP:0000563	Keratoconus
OMIM:613829	IFT140	9742	HP:0000518	Cataract
OMIM:613829	IFT140	9742	HP:0000550	Undetectable electroretinogram
OMIM:613829	IFT140	9742	HP:0012043	Pendular nystagmus
OMIM:613829	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613829	TULP1	7287	HP:0000613	Photophobia
OMIM:613829	TULP1	7287	HP:0000505	Visual impairment
OMIM:613829	TULP1	7287	HP:0000563	Keratoconus
OMIM:613829	TULP1	7287	HP:0000518	Cataract
OMIM:613829	TULP1	7287	HP:0000550	Undetectable electroretinogram
OMIM:613829	TULP1	7287	HP:0012043	Pendular nystagmus
OMIM:613829	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613829	GUCY2D	3000	HP:0000613	Photophobia
OMIM:613829	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:613829	GUCY2D	3000	HP:0000563	Keratoconus
OMIM:613829	GUCY2D	3000	HP:0000518	Cataract
OMIM:613829	GUCY2D	3000	HP:0000550	Undetectable electroretinogram
OMIM:613829	GUCY2D	3000	HP:0012043	Pendular nystagmus
OMIM:613829	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:613829	CEP290	80184	HP:0000613	Photophobia
OMIM:613829	CEP290	80184	HP:0000505	Visual impairment
OMIM:613829	CEP290	80184	HP:0000563	Keratoconus
OMIM:613829	CEP290	80184	HP:0000518	Cataract
OMIM:613829	CEP290	80184	HP:0000550	Undetectable electroretinogram
OMIM:613829	CEP290	80184	HP:0012043	Pendular nystagmus
OMIM:613829	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:613829	IQCB1	9657	HP:0000613	Photophobia
OMIM:613829	IQCB1	9657	HP:0000505	Visual impairment
OMIM:613829	IQCB1	9657	HP:0000563	Keratoconus
OMIM:613829	IQCB1	9657	HP:0000518	Cataract
OMIM:613829	IQCB1	9657	HP:0000550	Undetectable electroretinogram
OMIM:613829	IQCB1	9657	HP:0012043	Pendular nystagmus
OMIM:613829	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:613829	KCNJ13	3769	HP:0000613	Photophobia
OMIM:613829	KCNJ13	3769	HP:0000505	Visual impairment
OMIM:613829	KCNJ13	3769	HP:0000563	Keratoconus
OMIM:613829	KCNJ13	3769	HP:0000518	Cataract
OMIM:613829	KCNJ13	3769	HP:0000550	Undetectable electroretinogram
OMIM:613829	KCNJ13	3769	HP:0012043	Pendular nystagmus
OMIM:613829	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:613829	CRB1	23418	HP:0000613	Photophobia
OMIM:613829	CRB1	23418	HP:0000505	Visual impairment
OMIM:613829	CRB1	23418	HP:0000563	Keratoconus
OMIM:613829	CRB1	23418	HP:0000518	Cataract
OMIM:613829	CRB1	23418	HP:0000550	Undetectable electroretinogram
OMIM:613829	CRB1	23418	HP:0012043	Pendular nystagmus
OMIM:613829	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613829	GDF6	392255	HP:0000613	Photophobia
OMIM:613829	GDF6	392255	HP:0000505	Visual impairment
OMIM:613829	GDF6	392255	HP:0000563	Keratoconus
OMIM:613829	GDF6	392255	HP:0000518	Cataract
OMIM:613829	GDF6	392255	HP:0000550	Undetectable electroretinogram
OMIM:613829	GDF6	392255	HP:0012043	Pendular nystagmus
OMIM:613829	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:613829	CRX	1406	HP:0000613	Photophobia
OMIM:613829	CRX	1406	HP:0000505	Visual impairment
OMIM:613829	CRX	1406	HP:0000563	Keratoconus
OMIM:613829	CRX	1406	HP:0000518	Cataract
OMIM:613829	CRX	1406	HP:0000550	Undetectable electroretinogram
OMIM:613829	CRX	1406	HP:0012043	Pendular nystagmus
OMIM:613829	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613829	RD3	343035	HP:0000613	Photophobia
OMIM:613829	RD3	343035	HP:0000505	Visual impairment
OMIM:613829	RD3	343035	HP:0000563	Keratoconus
OMIM:613829	RD3	343035	HP:0000518	Cataract
OMIM:613829	RD3	343035	HP:0000550	Undetectable electroretinogram
OMIM:613829	RD3	343035	HP:0012043	Pendular nystagmus
OMIM:613829	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:613829	IMPDH1	3614	HP:0000613	Photophobia
OMIM:613829	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613829	IMPDH1	3614	HP:0000563	Keratoconus
OMIM:613829	IMPDH1	3614	HP:0000518	Cataract
OMIM:613829	IMPDH1	3614	HP:0000550	Undetectable electroretinogram
OMIM:613829	IMPDH1	3614	HP:0012043	Pendular nystagmus
OMIM:613829	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613107	GFI1	2672	HP:0000006	Autosomal dominant inheritance
OMIM:613107	GFI1	2672	HP:0010976	B lymphocytopenia
OMIM:613107	ELANE	1991	HP:0000006	Autosomal dominant inheritance
OMIM:613107	ELANE	1991	HP:0010976	B lymphocytopenia
OMIM:613107	TCIRG1	10312	HP:0000006	Autosomal dominant inheritance
OMIM:613107	TCIRG1	10312	HP:0010976	B lymphocytopenia
OMIM:605019	ANGPTL3	27329	HP:0000006	Autosomal dominant inheritance
OMIM:605019	ANGPTL3	27329	HP:0000007	Autosomal recessive inheritance
OMIM:605019	ANGPTL3	27329	HP:0003563	Hypobetalipoproteinemia
OMIM:613268	COL8A2	1296	HP:0001131	Corneal dystrophy
OMIM:613268	SLC4A11	83959	HP:0001131	Corneal dystrophy
OMIM:613268	ZEB1	6935	HP:0001131	Corneal dystrophy
OMIM:613268	AGBL1	123624	HP:0001131	Corneal dystrophy
OMIM:613268	TCF4	6925	HP:0001131	Corneal dystrophy
OMIM:609200	MYOT	9499	HP:0001638	Cardiomyopathy
OMIM:609200	MYOT	9499	HP:0003326	Myalgia
OMIM:609200	MYOT	9499	HP:0001271	Polyneuropathy
OMIM:609200	MYOT	9499	HP:0003701	Proximal muscle weakness
OMIM:609200	MYOT	9499	HP:0003693	Distal amyotrophy
OMIM:609200	MYOT	9499	HP:0000006	Autosomal dominant inheritance
OMIM:609200	MYOT	9499	HP:0001284	Areflexia
OMIM:609200	MYOT	9499	HP:0001771	Achilles tendon contracture
OMIM:609200	MYOT	9499	HP:0003677	Slow progression
OMIM:609200	MYOT	9499	HP:0003236	Elevated serum creatine phosphokinase
OMIM:609200	MYOT	9499	HP:0003581	Adult onset
OMIM:200110	TWIST2	117581	HP:0000691	Microdontia
OMIM:200110	TWIST2	117581	HP:0000154	Wide mouth
OMIM:200110	TWIST2	117581	HP:0000505	Visual impairment
OMIM:200110	TWIST2	117581	HP:0005105	Abnormal nasal morphology
OMIM:200110	TWIST2	117581	HP:0000233	Thin vermilion border
OMIM:200110	TWIST2	117581	HP:0000062	Ambiguous genitalia
OMIM:200110	TWIST2	117581	HP:0002167	Neurological speech impairment
OMIM:200110	TWIST2	117581	HP:0000958	Dry skin
OMIM:200110	TWIST2	117581	HP:0000545	Myopia
OMIM:200110	TWIST2	117581	HP:0000973	Cutis laxa
OMIM:200110	TWIST2	117581	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:200110	TWIST2	117581	HP:0008736	Hypoplasia of penis
OMIM:200110	TWIST2	117581	HP:0000316	Hypertelorism
OMIM:200110	TWIST2	117581	HP:0000963	Thin skin
OMIM:200110	TWIST2	117581	HP:0000413	Atresia of the external auditory canal
OMIM:200110	TWIST2	117581	HP:0000430	Underdeveloped nasal alae
OMIM:200110	TWIST2	117581	HP:0005280	Depressed nasal bridge
OMIM:200110	TWIST2	117581	HP:0001762	Talipes equinovarus
OMIM:200110	TWIST2	117581	HP:0000463	Anteverted nares
OMIM:200110	TWIST2	117581	HP:0001539	Omphalocele
OMIM:200110	TWIST2	117581	HP:0000007	Autosomal recessive inheritance
OMIM:200110	TWIST2	117581	HP:0000055	Abnormality of female external genitalia
OMIM:200110	TWIST2	117581	HP:0001770	Toe syndactyly
OMIM:200110	TWIST2	117581	HP:0000499	Abnormality of the eyelashes
OMIM:200110	TWIST2	117581	HP:0100490	Camptodactyly of finger
OMIM:200110	TWIST2	117581	HP:0100543	Cognitive impairment
OMIM:200110	TWIST2	117581	HP:0011362	Abnormal hair quantity
OMIM:200110	TWIST2	117581	HP:0001000	Abnormality of skin pigmentation
OMIM:200110	TWIST2	117581	HP:0000365	Hearing impairment
OMIM:200110	TWIST2	117581	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:200110	TWIST2	117581	HP:0001537	Umbilical hernia
OMIM:200110	TWIST2	117581	HP:0002213	Fine hair
OMIM:200110	TWIST2	117581	HP:0000750	Delayed speech and language development
OMIM:200110	TWIST2	117581	HP:0000028	Cryptorchidism
OMIM:200110	TWIST2	117581	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:200110	TWIST2	117581	HP:0007759	Opacification of the corneal stroma
OMIM:613680	THOC6	79228	HP:0003189	Long nose
OMIM:613680	THOC6	79228	HP:0000545	Myopia
OMIM:613680	THOC6	79228	HP:0000670	Carious teeth
OMIM:613680	THOC6	79228	HP:0000581	Blepharophimosis
OMIM:613680	THOC6	79228	HP:0001263	Global developmental delay
OMIM:613680	THOC6	79228	HP:0012745	Short palpebral fissure
OMIM:613680	THOC6	79228	HP:0000689	Dental malocclusion
OMIM:613680	THOC6	79228	HP:0000010	Recurrent urinary tract infections
OMIM:613680	THOC6	79228	HP:0000085	Horseshoe kidney
OMIM:613680	THOC6	79228	HP:0000582	Upslanted palpebral fissure
OMIM:613680	THOC6	79228	HP:0009890	High anterior hairline
OMIM:613680	THOC6	79228	HP:0000007	Autosomal recessive inheritance
OMIM:613680	THOC6	79228	HP:0000490	Deeply set eye
OMIM:613680	THOC6	79228	HP:0001999	Abnormal facial shape
OMIM:613680	THOC6	79228	HP:0001249	Intellectual disability
OMIM:613680	THOC6	79228	HP:0000252	Microcephaly
OMIM:613680	THOC6	79228	HP:0001643	Patent ductus arteriosus
OMIM:614499	METTL23	124512	HP:0001249	Intellectual disability
OMIM:614499	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:614499	CRADD	8738	HP:0001249	Intellectual disability
OMIM:614499	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:614499	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:614499	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:614499	FMN2	56776	HP:0001249	Intellectual disability
OMIM:614499	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:614499	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:614499	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:614499	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:614499	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:614499	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:614499	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:614499	LINS1	55180	HP:0001249	Intellectual disability
OMIM:614499	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614499	NDST1	3340	HP:0001249	Intellectual disability
OMIM:614499	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:614499	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:614499	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:614499	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:614499	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:614499	CRBN	51185	HP:0001249	Intellectual disability
OMIM:614499	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:614499	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:614499	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:614499	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:614499	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:614499	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:614499	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:614499	TECR	9524	HP:0001249	Intellectual disability
OMIM:614499	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:614499	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:614499	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:614499	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:614499	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:614499	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:614499	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:614499	EDC3	80153	HP:0001249	Intellectual disability
OMIM:614499	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:614499	MED13L	23389	HP:0001249	Intellectual disability
OMIM:614499	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:614499	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:614499	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:614499	MED23	9439	HP:0001249	Intellectual disability
OMIM:614499	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:225500	EVC2	132884	HP:0000028	Cryptorchidism
OMIM:225500	EVC2	132884	HP:0000486	Strabismus
OMIM:225500	EVC2	132884	HP:0000691	Microdontia
OMIM:225500	EVC2	132884	HP:0002488	Acute leukemia
OMIM:225500	EVC2	132884	HP:0000774	Narrow chest
OMIM:225500	EVC2	132884	HP:0100543	Cognitive impairment
OMIM:225500	EVC2	132884	HP:0002164	Nail dysplasia
OMIM:225500	EVC2	132884	HP:0001631	Atria septal defect
OMIM:225500	EVC2	132884	HP:0000047	Hypospadias
OMIM:225500	EVC2	132884	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:225500	EVC2	132884	HP:0011362	Abnormal hair quantity
OMIM:225500	EVC2	132884	HP:0000007	Autosomal recessive inheritance
OMIM:225500	EVC2	132884	HP:0002857	Genu valgum
OMIM:225500	EVC2	132884	HP:0000968	Ectodermal dysplasia
OMIM:225500	EVC2	132884	HP:0001762	Talipes equinovarus
OMIM:225500	EVC2	132884	HP:0005561	Abnormality of bone marrow cell morphology
OMIM:225500	EVC2	132884	HP:0003026	Short long bone
OMIM:225500	EVC2	132884	HP:0001511	Intrauterine growth retardation
OMIM:225500	EVC2	132884	HP:0000773	Short ribs
OMIM:225500	EVC2	132884	HP:0000768	Pectus carinatum
OMIM:225500	EVC2	132884	HP:0001696	Situs inversus totalis
OMIM:225500	EVC2	132884	HP:0000008	Abnormality of female internal genitalia
OMIM:225500	EVC2	132884	HP:0000695	Natal tooth
OMIM:225500	EVC2	132884	HP:0001800	Hypoplastic toenails
OMIM:225500	EVC2	132884	HP:0010306	Short thorax
OMIM:225500	EVC2	132884	HP:0002967	Cubitus valgus
OMIM:225500	EVC2	132884	HP:0001654	Abnormality of the heart valves
OMIM:225500	EVC2	132884	HP:0000684	Delayed eruption of teeth
OMIM:225500	EVC2	132884	HP:0001305	Dandy-Walker malformation
OMIM:225500	EVC2	132884	HP:0009882	Short distal phalanx of finger
OMIM:225500	EVC2	132884	HP:0005048	Synostosis of carpal bones
OMIM:225500	EVC2	132884	HP:0008678	Renal hypoplasia/aplasia
OMIM:225500	EVC2	132884	HP:0001249	Intellectual disability
OMIM:225500	EVC2	132884	HP:0001231	Abnormality of the fingernails
OMIM:225500	EVC2	132884	HP:0006477	Abnormality of the alveolar ridges
OMIM:225500	EVC2	132884	HP:0002097	Emphysema
OMIM:225500	EVC2	132884	HP:0000668	Hypodontia
OMIM:225500	EVC2	132884	HP:0000204	Cleft upper lip
OMIM:225500	EVC2	132884	HP:0001674	Complete atrioventricular canal defect
OMIM:225500	EVC2	132884	HP:0001162	Postaxial hand polydactyly
OMIM:225500	EVC2	132884	HP:0002750	Delayed skeletal maturation
OMIM:225500	EVC2	132884	HP:0000233	Thin vermilion border
OMIM:225500	EVC2	132884	HP:0009826	Limb undergrowth
OMIM:225500	EVC2	132884	HP:0001629	Ventricular septal defect
OMIM:225500	EVC	2121	HP:0000028	Cryptorchidism
OMIM:225500	EVC	2121	HP:0000486	Strabismus
OMIM:225500	EVC	2121	HP:0000691	Microdontia
OMIM:225500	EVC	2121	HP:0002488	Acute leukemia
OMIM:225500	EVC	2121	HP:0000774	Narrow chest
OMIM:225500	EVC	2121	HP:0100543	Cognitive impairment
OMIM:225500	EVC	2121	HP:0002164	Nail dysplasia
OMIM:225500	EVC	2121	HP:0001631	Atria septal defect
OMIM:225500	EVC	2121	HP:0000047	Hypospadias
OMIM:225500	EVC	2121	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:225500	EVC	2121	HP:0011362	Abnormal hair quantity
OMIM:225500	EVC	2121	HP:0000007	Autosomal recessive inheritance
OMIM:225500	EVC	2121	HP:0002857	Genu valgum
OMIM:225500	EVC	2121	HP:0000968	Ectodermal dysplasia
OMIM:225500	EVC	2121	HP:0001762	Talipes equinovarus
OMIM:225500	EVC	2121	HP:0005561	Abnormality of bone marrow cell morphology
OMIM:225500	EVC	2121	HP:0003026	Short long bone
OMIM:225500	EVC	2121	HP:0001511	Intrauterine growth retardation
OMIM:225500	EVC	2121	HP:0000773	Short ribs
OMIM:225500	EVC	2121	HP:0000768	Pectus carinatum
OMIM:225500	EVC	2121	HP:0001696	Situs inversus totalis
OMIM:225500	EVC	2121	HP:0000008	Abnormality of female internal genitalia
OMIM:225500	EVC	2121	HP:0000695	Natal tooth
OMIM:225500	EVC	2121	HP:0001800	Hypoplastic toenails
OMIM:225500	EVC	2121	HP:0010306	Short thorax
OMIM:225500	EVC	2121	HP:0002967	Cubitus valgus
OMIM:225500	EVC	2121	HP:0001654	Abnormality of the heart valves
OMIM:225500	EVC	2121	HP:0000684	Delayed eruption of teeth
OMIM:225500	EVC	2121	HP:0001305	Dandy-Walker malformation
OMIM:225500	EVC	2121	HP:0009882	Short distal phalanx of finger
OMIM:225500	EVC	2121	HP:0005048	Synostosis of carpal bones
OMIM:225500	EVC	2121	HP:0008678	Renal hypoplasia/aplasia
OMIM:225500	EVC	2121	HP:0001249	Intellectual disability
OMIM:225500	EVC	2121	HP:0001231	Abnormality of the fingernails
OMIM:225500	EVC	2121	HP:0006477	Abnormality of the alveolar ridges
OMIM:225500	EVC	2121	HP:0002097	Emphysema
OMIM:225500	EVC	2121	HP:0000668	Hypodontia
OMIM:225500	EVC	2121	HP:0000204	Cleft upper lip
OMIM:225500	EVC	2121	HP:0001674	Complete atrioventricular canal defect
OMIM:225500	EVC	2121	HP:0001162	Postaxial hand polydactyly
OMIM:225500	EVC	2121	HP:0002750	Delayed skeletal maturation
OMIM:225500	EVC	2121	HP:0000233	Thin vermilion border
OMIM:225500	EVC	2121	HP:0009826	Limb undergrowth
OMIM:225500	EVC	2121	HP:0001629	Ventricular septal defect
OMIM:203100	TYR	7299	HP:0000639	Nystagmus
OMIM:203100	TYR	7299	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:203100	TYR	7299	HP:0000505	Visual impairment
OMIM:203100	TYR	7299	HP:0000649	Abnormality of visual evoked potentials
OMIM:203100	TYR	7299	HP:0008069	Neoplasm of the skin
OMIM:203100	TYR	7299	HP:0001107	Ocular albinism
OMIM:203100	TYR	7299	HP:0000635	Blue irides
OMIM:203100	TYR	7299	HP:0007513	Generalized hypopigmentation
OMIM:203100	TYR	7299	HP:0007663	Reduced visual acuity
OMIM:203100	TYR	7299	HP:0000962	Hyperkeratosis
OMIM:203100	TYR	7299	HP:0001022	Albinism
OMIM:203100	TYR	7299	HP:0000007	Autosomal recessive inheritance
OMIM:203100	TYR	7299	HP:0004349	Reduced bone mineral density
OMIM:203100	TYR	7299	HP:0000613	Photophobia
OMIM:203100	TYR	7299	HP:0000483	Astigmatism
OMIM:203100	TYR	7299	HP:0001480	Freckling
OMIM:203100	TYR	7299	HP:0000545	Myopia
OMIM:203100	TYR	7299	HP:0000486	Strabismus
OMIM:203100	TYR	7299	HP:0000648	Optic atrophy
OMIM:203100	TYR	7299	HP:0003577	Congenital onset
OMIM:613251	MYH6	4624	HP:0001639	Hypertrophic cardiomyopathy
OMIM:308950	HPRT1	3251	HP:0001257	Spasticity
OMIM:308950	HPRT1	3251	HP:0000742	Self-mutilation
OMIM:308950	HPRT1	3251	HP:0001249	Intellectual disability
OMIM:308950	HPRT1	3251	HP:0002149	Hyperuricemia
OMIM:308950	HPRT1	3251	HP:0001417	X-linked inheritance
OMIM:308950	HPRT1	3251	HP:0001266	Choreoathetosis
OMIM:241530	SLC34A3	142680	HP:0005469	Flat occiput
OMIM:241530	SLC34A3	142680	HP:0001324	Muscle weakness
OMIM:241530	SLC34A3	142680	HP:0001252	Muscular hypotonia
OMIM:241530	SLC34A3	142680	HP:0002148	Hypophosphatemia
OMIM:241530	SLC34A3	142680	HP:0001438	Abnormality of the abdomen
OMIM:241530	SLC34A3	142680	HP:0002757	Recurrent fractures
OMIM:241530	SLC34A3	142680	HP:0002663	Delayed epiphyseal ossification
OMIM:241530	SLC34A3	142680	HP:0002007	Frontal bossing
OMIM:241530	SLC34A3	142680	HP:0002150	Hypercalciuria
OMIM:241530	SLC34A3	142680	HP:0004322	Short stature
OMIM:241530	SLC34A3	142680	HP:0001508	Failure to thrive
OMIM:241530	SLC34A3	142680	HP:0000007	Autosomal recessive inheritance
OMIM:241530	SLC34A3	142680	HP:0002982	Tibial bowing
OMIM:241530	SLC34A3	142680	HP:0003593	Infantile onset
OMIM:241530	SLC34A3	142680	HP:0004724	Calcium nephrolithiasis
OMIM:241530	SLC34A3	142680	HP:0002980	Femoral bowing
OMIM:241530	SLC34A3	142680	HP:0000920	Enlargement of the costochondral junction
OMIM:241530	SLC34A3	142680	HP:0003025	Metaphyseal irregularity
OMIM:241530	SLC34A3	142680	HP:0002355	Difficulty walking
OMIM:241530	SLC34A3	142680	HP:0002653	Bone pain
OMIM:241530	SLC34A3	142680	HP:0004492	Widely patent fontanelles and sutures
OMIM:241530	SLC34A3	142680	HP:0002979	Bowing of the legs
OMIM:604809	MUC5B	727897	HP:0002110	Bronchiectasis
OMIM:604809	MUC5B	727897	HP:0003676	Progressive
OMIM:604809	DPCR1	135656	HP:0002110	Bronchiectasis
OMIM:604809	DPCR1	135656	HP:0003676	Progressive
OMIM:608115	FSHR	2492	HP:0002018	Nausea
OMIM:608115	FSHR	2492	HP:0002027	Abdominal pain
OMIM:608115	FSHR	2492	HP:0000006	Autosomal dominant inheritance
OMIM:608115	FSHR	2492	HP:0000119	Abnormality of the genitourinary system
OMIM:608115	FSHR	2492	HP:0001541	Ascites
OMIM:604377	COA6	388753	HP:0002529	Neuronal loss in central nervous system
OMIM:604377	COA6	388753	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604377	COA6	388753	HP:0001263	Global developmental delay
OMIM:604377	COA6	388753	HP:0003577	Congenital onset
OMIM:604377	COA6	388753	HP:0002490	Increased CSF lactate
OMIM:604377	COA6	388753	HP:0000007	Autosomal recessive inheritance
OMIM:604377	COA6	388753	HP:0002151	Increased serum lactate
OMIM:604377	COA6	388753	HP:0003128	Lactic acidosis
OMIM:604377	COA6	388753	HP:0008872	Feeding difficulties in infancy
OMIM:604377	COA6	388753	HP:0001252	Muscular hypotonia
OMIM:604377	COA6	388753	HP:0007941	Limited extraocular movements
OMIM:604377	COA6	388753	HP:0002880	Respiratory difficulties
OMIM:604377	COA6	388753	HP:0006999	Basal ganglia gliosis
OMIM:604377	COA6	388753	HP:0001522	Death in infancy
OMIM:604377	SCO1	6341	HP:0002529	Neuronal loss in central nervous system
OMIM:604377	SCO1	6341	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604377	SCO1	6341	HP:0001263	Global developmental delay
OMIM:604377	SCO1	6341	HP:0003577	Congenital onset
OMIM:604377	SCO1	6341	HP:0002490	Increased CSF lactate
OMIM:604377	SCO1	6341	HP:0000007	Autosomal recessive inheritance
OMIM:604377	SCO1	6341	HP:0002151	Increased serum lactate
OMIM:604377	SCO1	6341	HP:0003128	Lactic acidosis
OMIM:604377	SCO1	6341	HP:0008872	Feeding difficulties in infancy
OMIM:604377	SCO1	6341	HP:0001252	Muscular hypotonia
OMIM:604377	SCO1	6341	HP:0007941	Limited extraocular movements
OMIM:604377	SCO1	6341	HP:0002880	Respiratory difficulties
OMIM:604377	SCO1	6341	HP:0006999	Basal ganglia gliosis
OMIM:604377	SCO1	6341	HP:0001522	Death in infancy
OMIM:604377	COX15	1355	HP:0002529	Neuronal loss in central nervous system
OMIM:604377	COX15	1355	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604377	COX15	1355	HP:0001263	Global developmental delay
OMIM:604377	COX15	1355	HP:0003577	Congenital onset
OMIM:604377	COX15	1355	HP:0002490	Increased CSF lactate
OMIM:604377	COX15	1355	HP:0000007	Autosomal recessive inheritance
OMIM:604377	COX15	1355	HP:0002151	Increased serum lactate
OMIM:604377	COX15	1355	HP:0003128	Lactic acidosis
OMIM:604377	COX15	1355	HP:0008872	Feeding difficulties in infancy
OMIM:604377	COX15	1355	HP:0001252	Muscular hypotonia
OMIM:604377	COX15	1355	HP:0007941	Limited extraocular movements
OMIM:604377	COX15	1355	HP:0002880	Respiratory difficulties
OMIM:604377	COX15	1355	HP:0006999	Basal ganglia gliosis
OMIM:604377	COX15	1355	HP:0001522	Death in infancy
OMIM:604377	SCO2	9997	HP:0002529	Neuronal loss in central nervous system
OMIM:604377	SCO2	9997	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604377	SCO2	9997	HP:0001263	Global developmental delay
OMIM:604377	SCO2	9997	HP:0003577	Congenital onset
OMIM:604377	SCO2	9997	HP:0002490	Increased CSF lactate
OMIM:604377	SCO2	9997	HP:0000007	Autosomal recessive inheritance
OMIM:604377	SCO2	9997	HP:0002151	Increased serum lactate
OMIM:604377	SCO2	9997	HP:0003128	Lactic acidosis
OMIM:604377	SCO2	9997	HP:0008872	Feeding difficulties in infancy
OMIM:604377	SCO2	9997	HP:0001252	Muscular hypotonia
OMIM:604377	SCO2	9997	HP:0007941	Limited extraocular movements
OMIM:604377	SCO2	9997	HP:0002880	Respiratory difficulties
OMIM:604377	SCO2	9997	HP:0006999	Basal ganglia gliosis
OMIM:604377	SCO2	9997	HP:0001522	Death in infancy
OMIM:604377	COA5	493753	HP:0002529	Neuronal loss in central nervous system
OMIM:604377	COA5	493753	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604377	COA5	493753	HP:0001263	Global developmental delay
OMIM:604377	COA5	493753	HP:0003577	Congenital onset
OMIM:604377	COA5	493753	HP:0002490	Increased CSF lactate
OMIM:604377	COA5	493753	HP:0000007	Autosomal recessive inheritance
OMIM:604377	COA5	493753	HP:0002151	Increased serum lactate
OMIM:604377	COA5	493753	HP:0003128	Lactic acidosis
OMIM:604377	COA5	493753	HP:0008872	Feeding difficulties in infancy
OMIM:604377	COA5	493753	HP:0001252	Muscular hypotonia
OMIM:604377	COA5	493753	HP:0007941	Limited extraocular movements
OMIM:604377	COA5	493753	HP:0002880	Respiratory difficulties
OMIM:604377	COA5	493753	HP:0006999	Basal ganglia gliosis
OMIM:604377	COA5	493753	HP:0001522	Death in infancy
OMIM:608836	CPT2	1376	HP:0001319	Neonatal hypotonia
OMIM:608836	CPT2	1376	HP:0000218	High palate
OMIM:608836	CPT2	1376	HP:0002126	Polymicrogyria
OMIM:608836	CPT2	1376	HP:0002910	Elevated hepatic transaminases
OMIM:608836	CPT2	1376	HP:0001987	Hyperammonemia
OMIM:608836	CPT2	1376	HP:0002240	Hepatomegaly
OMIM:608836	CPT2	1376	HP:0000083	Renal insufficiency
OMIM:608836	CPT2	1376	HP:0001274	Agenesis of corpus callosum
OMIM:608836	CPT2	1376	HP:0002104	Apnea
OMIM:608836	CPT2	1376	HP:0000396	Overfolded helix
OMIM:608836	CPT2	1376	HP:0008872	Feeding difficulties in infancy
OMIM:608836	CPT2	1376	HP:0001562	Oligohydramnios
OMIM:608836	CPT2	1376	HP:0001250	Seizures
OMIM:608836	CPT2	1376	HP:0011675	Arrhythmia
OMIM:608836	CPT2	1376	HP:0002514	Cerebral calcification
OMIM:608836	CPT2	1376	HP:0000003	Multicystic kidney dysplasia
OMIM:608836	CPT2	1376	HP:0001800	Hypoplastic toenails
OMIM:608836	CPT2	1376	HP:0011220	Prominent forehead
OMIM:608836	CPT2	1376	HP:0002098	Respiratory distress
OMIM:608836	CPT2	1376	HP:0000348	High forehead
OMIM:608836	CPT2	1376	HP:0006610	Wide intermamillary distance
OMIM:608836	CPT2	1376	HP:0000126	Hydronephrosis
OMIM:608836	CPT2	1376	HP:0000189	Narrow palate
OMIM:608836	CPT2	1376	HP:0000113	Polycystic kidney dysplasia
OMIM:608836	CPT2	1376	HP:0001640	Cardiomegaly
OMIM:608836	CPT2	1376	HP:0002878	Respiratory failure
OMIM:608836	CPT2	1376	HP:0001182	Tapered finger
OMIM:608836	CPT2	1376	HP:0000369	Low-set ears
OMIM:608836	CPT2	1376	HP:0001644	Dilated cardiomyopathy
OMIM:608836	CPT2	1376	HP:0001760	Abnormality of the foot
OMIM:608836	CPT2	1376	HP:0000340	Sloping forehead
OMIM:608836	CPT2	1376	HP:0010511	Long toe
OMIM:608836	CPT2	1376	HP:0000007	Autosomal recessive inheritance
OMIM:608836	CPT2	1376	HP:0000073	Ureteral duplication
OMIM:608836	CPT2	1376	HP:0001254	Lethargy
OMIM:608836	CPT2	1376	HP:0000518	Cataract
OMIM:608836	CPT2	1376	HP:0006380	Knee flexion contracture
OMIM:608836	CPT2	1376	HP:0001943	Hypoglycemia
OMIM:608836	CPT2	1376	HP:0002119	Ventriculomegaly
OMIM:608836	CPT2	1376	HP:0000252	Microcephaly
OMIM:608836	CPT2	1376	HP:0000414	Bulbous nose
OMIM:608836	CPT2	1376	HP:0002987	Elbow flexion contracture
OMIM:608836	CPT2	1376	HP:0000358	Posteriorly rotated ears
OMIM:613843	AIPL1	23746	HP:0000546	Retinal degeneration
OMIM:613843	AIPL1	23746	HP:0000551	Abnormality of color vision
OMIM:613843	AIPL1	23746	HP:0001133	Constriction of peripheral visual field
OMIM:613843	AIPL1	23746	HP:0000543	Optic disc pallor
OMIM:613843	AIPL1	23746	HP:0000510	Rod-cone dystrophy
OMIM:613843	AIPL1	23746	HP:0007772	Impaired smooth pursuit
OMIM:613843	AIPL1	23746	HP:0000545	Myopia
OMIM:613843	AIPL1	23746	HP:0000505	Visual impairment
OMIM:613843	AIPL1	23746	HP:0000639	Nystagmus
OMIM:613843	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:613843	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:613843	AIPL1	23746	HP:0000540	Hypermetropia
OMIM:613843	AIPL1	23746	HP:0000580	Pigmentary retinopathy
OMIM:613843	NMNAT1	64802	HP:0000546	Retinal degeneration
OMIM:613843	NMNAT1	64802	HP:0000551	Abnormality of color vision
OMIM:613843	NMNAT1	64802	HP:0001133	Constriction of peripheral visual field
OMIM:613843	NMNAT1	64802	HP:0000543	Optic disc pallor
OMIM:613843	NMNAT1	64802	HP:0000510	Rod-cone dystrophy
OMIM:613843	NMNAT1	64802	HP:0007772	Impaired smooth pursuit
OMIM:613843	NMNAT1	64802	HP:0000545	Myopia
OMIM:613843	NMNAT1	64802	HP:0000505	Visual impairment
OMIM:613843	NMNAT1	64802	HP:0000639	Nystagmus
OMIM:613843	NMNAT1	64802	HP:0000662	Nyctalopia
OMIM:613843	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:613843	NMNAT1	64802	HP:0000540	Hypermetropia
OMIM:613843	NMNAT1	64802	HP:0000580	Pigmentary retinopathy
OMIM:613843	SPATA7	55812	HP:0000546	Retinal degeneration
OMIM:613843	SPATA7	55812	HP:0000551	Abnormality of color vision
OMIM:613843	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:613843	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:613843	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613843	SPATA7	55812	HP:0007772	Impaired smooth pursuit
OMIM:613843	SPATA7	55812	HP:0000545	Myopia
OMIM:613843	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613843	SPATA7	55812	HP:0000639	Nystagmus
OMIM:613843	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613843	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613843	SPATA7	55812	HP:0000540	Hypermetropia
OMIM:613843	SPATA7	55812	HP:0000580	Pigmentary retinopathy
OMIM:613843	RDH12	145226	HP:0000546	Retinal degeneration
OMIM:613843	RDH12	145226	HP:0000551	Abnormality of color vision
OMIM:613843	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:613843	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:613843	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613843	RDH12	145226	HP:0007772	Impaired smooth pursuit
OMIM:613843	RDH12	145226	HP:0000545	Myopia
OMIM:613843	RDH12	145226	HP:0000505	Visual impairment
OMIM:613843	RDH12	145226	HP:0000639	Nystagmus
OMIM:613843	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613843	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613843	RDH12	145226	HP:0000540	Hypermetropia
OMIM:613843	RDH12	145226	HP:0000580	Pigmentary retinopathy
OMIM:613843	RPGRIP1	57096	HP:0000546	Retinal degeneration
OMIM:613843	RPGRIP1	57096	HP:0000551	Abnormality of color vision
OMIM:613843	RPGRIP1	57096	HP:0001133	Constriction of peripheral visual field
OMIM:613843	RPGRIP1	57096	HP:0000543	Optic disc pallor
OMIM:613843	RPGRIP1	57096	HP:0000510	Rod-cone dystrophy
OMIM:613843	RPGRIP1	57096	HP:0007772	Impaired smooth pursuit
OMIM:613843	RPGRIP1	57096	HP:0000545	Myopia
OMIM:613843	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:613843	RPGRIP1	57096	HP:0000639	Nystagmus
OMIM:613843	RPGRIP1	57096	HP:0000662	Nyctalopia
OMIM:613843	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:613843	RPGRIP1	57096	HP:0000540	Hypermetropia
OMIM:613843	RPGRIP1	57096	HP:0000580	Pigmentary retinopathy
OMIM:613843	RPE65	6121	HP:0000546	Retinal degeneration
OMIM:613843	RPE65	6121	HP:0000551	Abnormality of color vision
OMIM:613843	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:613843	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:613843	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613843	RPE65	6121	HP:0007772	Impaired smooth pursuit
OMIM:613843	RPE65	6121	HP:0000545	Myopia
OMIM:613843	RPE65	6121	HP:0000505	Visual impairment
OMIM:613843	RPE65	6121	HP:0000639	Nystagmus
OMIM:613843	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613843	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613843	RPE65	6121	HP:0000540	Hypermetropia
OMIM:613843	RPE65	6121	HP:0000580	Pigmentary retinopathy
OMIM:613843	LCA5	167691	HP:0000546	Retinal degeneration
OMIM:613843	LCA5	167691	HP:0000551	Abnormality of color vision
OMIM:613843	LCA5	167691	HP:0001133	Constriction of peripheral visual field
OMIM:613843	LCA5	167691	HP:0000543	Optic disc pallor
OMIM:613843	LCA5	167691	HP:0000510	Rod-cone dystrophy
OMIM:613843	LCA5	167691	HP:0007772	Impaired smooth pursuit
OMIM:613843	LCA5	167691	HP:0000545	Myopia
OMIM:613843	LCA5	167691	HP:0000505	Visual impairment
OMIM:613843	LCA5	167691	HP:0000639	Nystagmus
OMIM:613843	LCA5	167691	HP:0000662	Nyctalopia
OMIM:613843	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:613843	LCA5	167691	HP:0000540	Hypermetropia
OMIM:613843	LCA5	167691	HP:0000580	Pigmentary retinopathy
OMIM:613843	LRAT	9227	HP:0000546	Retinal degeneration
OMIM:613843	LRAT	9227	HP:0000551	Abnormality of color vision
OMIM:613843	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:613843	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:613843	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613843	LRAT	9227	HP:0007772	Impaired smooth pursuit
OMIM:613843	LRAT	9227	HP:0000545	Myopia
OMIM:613843	LRAT	9227	HP:0000505	Visual impairment
OMIM:613843	LRAT	9227	HP:0000639	Nystagmus
OMIM:613843	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613843	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613843	LRAT	9227	HP:0000540	Hypermetropia
OMIM:613843	LRAT	9227	HP:0000580	Pigmentary retinopathy
OMIM:613843	IFT140	9742	HP:0000546	Retinal degeneration
OMIM:613843	IFT140	9742	HP:0000551	Abnormality of color vision
OMIM:613843	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:613843	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:613843	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613843	IFT140	9742	HP:0007772	Impaired smooth pursuit
OMIM:613843	IFT140	9742	HP:0000545	Myopia
OMIM:613843	IFT140	9742	HP:0000505	Visual impairment
OMIM:613843	IFT140	9742	HP:0000639	Nystagmus
OMIM:613843	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613843	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613843	IFT140	9742	HP:0000540	Hypermetropia
OMIM:613843	IFT140	9742	HP:0000580	Pigmentary retinopathy
OMIM:613843	TULP1	7287	HP:0000546	Retinal degeneration
OMIM:613843	TULP1	7287	HP:0000551	Abnormality of color vision
OMIM:613843	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:613843	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:613843	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613843	TULP1	7287	HP:0007772	Impaired smooth pursuit
OMIM:613843	TULP1	7287	HP:0000545	Myopia
OMIM:613843	TULP1	7287	HP:0000505	Visual impairment
OMIM:613843	TULP1	7287	HP:0000639	Nystagmus
OMIM:613843	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613843	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613843	TULP1	7287	HP:0000540	Hypermetropia
OMIM:613843	TULP1	7287	HP:0000580	Pigmentary retinopathy
OMIM:613843	GUCY2D	3000	HP:0000546	Retinal degeneration
OMIM:613843	GUCY2D	3000	HP:0000551	Abnormality of color vision
OMIM:613843	GUCY2D	3000	HP:0001133	Constriction of peripheral visual field
OMIM:613843	GUCY2D	3000	HP:0000543	Optic disc pallor
OMIM:613843	GUCY2D	3000	HP:0000510	Rod-cone dystrophy
OMIM:613843	GUCY2D	3000	HP:0007772	Impaired smooth pursuit
OMIM:613843	GUCY2D	3000	HP:0000545	Myopia
OMIM:613843	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:613843	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:613843	GUCY2D	3000	HP:0000662	Nyctalopia
OMIM:613843	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:613843	GUCY2D	3000	HP:0000540	Hypermetropia
OMIM:613843	GUCY2D	3000	HP:0000580	Pigmentary retinopathy
OMIM:613843	CEP290	80184	HP:0000546	Retinal degeneration
OMIM:613843	CEP290	80184	HP:0000551	Abnormality of color vision
OMIM:613843	CEP290	80184	HP:0001133	Constriction of peripheral visual field
OMIM:613843	CEP290	80184	HP:0000543	Optic disc pallor
OMIM:613843	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:613843	CEP290	80184	HP:0007772	Impaired smooth pursuit
OMIM:613843	CEP290	80184	HP:0000545	Myopia
OMIM:613843	CEP290	80184	HP:0000505	Visual impairment
OMIM:613843	CEP290	80184	HP:0000639	Nystagmus
OMIM:613843	CEP290	80184	HP:0000662	Nyctalopia
OMIM:613843	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:613843	CEP290	80184	HP:0000540	Hypermetropia
OMIM:613843	CEP290	80184	HP:0000580	Pigmentary retinopathy
OMIM:613843	IQCB1	9657	HP:0000546	Retinal degeneration
OMIM:613843	IQCB1	9657	HP:0000551	Abnormality of color vision
OMIM:613843	IQCB1	9657	HP:0001133	Constriction of peripheral visual field
OMIM:613843	IQCB1	9657	HP:0000543	Optic disc pallor
OMIM:613843	IQCB1	9657	HP:0000510	Rod-cone dystrophy
OMIM:613843	IQCB1	9657	HP:0007772	Impaired smooth pursuit
OMIM:613843	IQCB1	9657	HP:0000545	Myopia
OMIM:613843	IQCB1	9657	HP:0000505	Visual impairment
OMIM:613843	IQCB1	9657	HP:0000639	Nystagmus
OMIM:613843	IQCB1	9657	HP:0000662	Nyctalopia
OMIM:613843	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:613843	IQCB1	9657	HP:0000540	Hypermetropia
OMIM:613843	IQCB1	9657	HP:0000580	Pigmentary retinopathy
OMIM:613843	KCNJ13	3769	HP:0000546	Retinal degeneration
OMIM:613843	KCNJ13	3769	HP:0000551	Abnormality of color vision
OMIM:613843	KCNJ13	3769	HP:0001133	Constriction of peripheral visual field
OMIM:613843	KCNJ13	3769	HP:0000543	Optic disc pallor
OMIM:613843	KCNJ13	3769	HP:0000510	Rod-cone dystrophy
OMIM:613843	KCNJ13	3769	HP:0007772	Impaired smooth pursuit
OMIM:613843	KCNJ13	3769	HP:0000545	Myopia
OMIM:613843	KCNJ13	3769	HP:0000505	Visual impairment
OMIM:613843	KCNJ13	3769	HP:0000639	Nystagmus
OMIM:613843	KCNJ13	3769	HP:0000662	Nyctalopia
OMIM:613843	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:613843	KCNJ13	3769	HP:0000540	Hypermetropia
OMIM:613843	KCNJ13	3769	HP:0000580	Pigmentary retinopathy
OMIM:613843	CRB1	23418	HP:0000546	Retinal degeneration
OMIM:613843	CRB1	23418	HP:0000551	Abnormality of color vision
OMIM:613843	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:613843	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:613843	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613843	CRB1	23418	HP:0007772	Impaired smooth pursuit
OMIM:613843	CRB1	23418	HP:0000545	Myopia
OMIM:613843	CRB1	23418	HP:0000505	Visual impairment
OMIM:613843	CRB1	23418	HP:0000639	Nystagmus
OMIM:613843	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613843	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613843	CRB1	23418	HP:0000540	Hypermetropia
OMIM:613843	CRB1	23418	HP:0000580	Pigmentary retinopathy
OMIM:613843	GDF6	392255	HP:0000546	Retinal degeneration
OMIM:613843	GDF6	392255	HP:0000551	Abnormality of color vision
OMIM:613843	GDF6	392255	HP:0001133	Constriction of peripheral visual field
OMIM:613843	GDF6	392255	HP:0000543	Optic disc pallor
OMIM:613843	GDF6	392255	HP:0000510	Rod-cone dystrophy
OMIM:613843	GDF6	392255	HP:0007772	Impaired smooth pursuit
OMIM:613843	GDF6	392255	HP:0000545	Myopia
OMIM:613843	GDF6	392255	HP:0000505	Visual impairment
OMIM:613843	GDF6	392255	HP:0000639	Nystagmus
OMIM:613843	GDF6	392255	HP:0000662	Nyctalopia
OMIM:613843	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:613843	GDF6	392255	HP:0000540	Hypermetropia
OMIM:613843	GDF6	392255	HP:0000580	Pigmentary retinopathy
OMIM:613843	RD3	343035	HP:0000546	Retinal degeneration
OMIM:613843	RD3	343035	HP:0000551	Abnormality of color vision
OMIM:613843	RD3	343035	HP:0001133	Constriction of peripheral visual field
OMIM:613843	RD3	343035	HP:0000543	Optic disc pallor
OMIM:613843	RD3	343035	HP:0000510	Rod-cone dystrophy
OMIM:613843	RD3	343035	HP:0007772	Impaired smooth pursuit
OMIM:613843	RD3	343035	HP:0000545	Myopia
OMIM:613843	RD3	343035	HP:0000505	Visual impairment
OMIM:613843	RD3	343035	HP:0000639	Nystagmus
OMIM:613843	RD3	343035	HP:0000662	Nyctalopia
OMIM:613843	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:613843	RD3	343035	HP:0000540	Hypermetropia
OMIM:613843	RD3	343035	HP:0000580	Pigmentary retinopathy
OMIM:613843	CRX	1406	HP:0000546	Retinal degeneration
OMIM:613843	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:613843	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:613843	CRX	1406	HP:0000543	Optic disc pallor
OMIM:613843	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613843	CRX	1406	HP:0007772	Impaired smooth pursuit
OMIM:613843	CRX	1406	HP:0000545	Myopia
OMIM:613843	CRX	1406	HP:0000505	Visual impairment
OMIM:613843	CRX	1406	HP:0000639	Nystagmus
OMIM:613843	CRX	1406	HP:0000662	Nyctalopia
OMIM:613843	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613843	CRX	1406	HP:0000540	Hypermetropia
OMIM:613843	CRX	1406	HP:0000580	Pigmentary retinopathy
OMIM:613843	IMPDH1	3614	HP:0000546	Retinal degeneration
OMIM:613843	IMPDH1	3614	HP:0000551	Abnormality of color vision
OMIM:613843	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:613843	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:613843	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613843	IMPDH1	3614	HP:0007772	Impaired smooth pursuit
OMIM:613843	IMPDH1	3614	HP:0000545	Myopia
OMIM:613843	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613843	IMPDH1	3614	HP:0000639	Nystagmus
OMIM:613843	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613843	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613843	IMPDH1	3614	HP:0000540	Hypermetropia
OMIM:613843	IMPDH1	3614	HP:0000580	Pigmentary retinopathy
OMIM:607765	HSD3B7	80270	HP:0003256	Abnormality of the coagulation cascade
OMIM:607765	HSD3B7	80270	HP:0001928	Abnormality of coagulation
OMIM:607765	HSD3B7	80270	HP:0001406	Intrahepatic cholestasis
OMIM:607765	HSD3B7	80270	HP:0000989	Pruritus
OMIM:607765	HSD3B7	80270	HP:0001394	Cirrhosis
OMIM:607765	HSD3B7	80270	HP:0002904	Hyperbilirubinemia
OMIM:607765	HSD3B7	80270	HP:0001399	Hepatic failure
OMIM:607765	HSD3B7	80270	HP:0002570	Steatorrhea
OMIM:607765	HSD3B7	80270	HP:0003623	Neonatal onset
OMIM:607765	HSD3B7	80270	HP:0200084	Giant cell hepatitis
OMIM:607765	HSD3B7	80270	HP:0000952	Jaundice
OMIM:607765	HSD3B7	80270	HP:0000007	Autosomal recessive inheritance
OMIM:607765	HSD3B7	80270	HP:0002239	Gastrointestinal hemorrhage
OMIM:607765	HSD3B7	80270	HP:0000662	Nyctalopia
OMIM:607765	HSD3B7	80270	HP:0002910	Elevated hepatic transaminases
OMIM:607765	HSD3B7	80270	HP:0009830	Peripheral neuropathy
OMIM:607765	HSD3B7	80270	HP:0001508	Failure to thrive
OMIM:607765	HSD3B7	80270	HP:0001744	Splenomegaly
OMIM:607765	HSD3B7	80270	HP:0002240	Hepatomegaly
OMIM:607765	HSD3B7	80270	HP:0011985	Acholic stools
OMIM:607765	HSD3B7	80270	HP:0002014	Diarrhea
OMIM:607765	HSD3B7	80270	HP:0004349	Reduced bone mineral density
OMIM:607765	HSD3B7	80270	HP:0003146	Hypocholesterolemia
OMIM:613805	CDT1	81620	HP:0001270	Motor delay
OMIM:613805	CDT1	81620	HP:0006443	Patellar aplasia
OMIM:613805	CDT1	81620	HP:0000007	Autosomal recessive inheritance
OMIM:613805	CDT1	81620	HP:0000327	Hypoplasia of the maxilla
OMIM:613805	CDT1	81620	HP:0001263	Global developmental delay
OMIM:613805	CDT1	81620	HP:0002750	Delayed skeletal maturation
OMIM:613805	CDT1	81620	HP:0008551	Microtia
OMIM:613805	CDT1	81620	HP:0001508	Failure to thrive
OMIM:613805	CDT1	81620	HP:0000347	Micrognathia
OMIM:613805	CDT1	81620	HP:0011968	Feeding difficulties
OMIM:613805	CDT1	81620	HP:0000369	Low-set ears
OMIM:613805	CDT1	81620	HP:0000252	Microcephaly
OMIM:613805	CDT1	81620	HP:0003100	Slender long bone
OMIM:613805	CDT1	81620	HP:0002020	Gastroesophageal reflux
OMIM:613805	CDT1	81620	HP:0000054	Micropenis
OMIM:613805	CDT1	81620	HP:0003042	Elbow dislocation
OMIM:613805	CDT1	81620	HP:0000343	Long philtrum
OMIM:613805	CDT1	81620	HP:0001511	Intrauterine growth retardation
OMIM:613805	CDT1	81620	HP:0000325	Triangular face
OMIM:613805	CDT1	81620	HP:0000028	Cryptorchidism
OMIM:613805	ORC1	4998	HP:0001270	Motor delay
OMIM:613805	ORC1	4998	HP:0006443	Patellar aplasia
OMIM:613805	ORC1	4998	HP:0000007	Autosomal recessive inheritance
OMIM:613805	ORC1	4998	HP:0000327	Hypoplasia of the maxilla
OMIM:613805	ORC1	4998	HP:0001263	Global developmental delay
OMIM:613805	ORC1	4998	HP:0002750	Delayed skeletal maturation
OMIM:613805	ORC1	4998	HP:0008551	Microtia
OMIM:613805	ORC1	4998	HP:0001508	Failure to thrive
OMIM:613805	ORC1	4998	HP:0000347	Micrognathia
OMIM:613805	ORC1	4998	HP:0011968	Feeding difficulties
OMIM:613805	ORC1	4998	HP:0000369	Low-set ears
OMIM:613805	ORC1	4998	HP:0000252	Microcephaly
OMIM:613805	ORC1	4998	HP:0003100	Slender long bone
OMIM:613805	ORC1	4998	HP:0002020	Gastroesophageal reflux
OMIM:613805	ORC1	4998	HP:0000054	Micropenis
OMIM:613805	ORC1	4998	HP:0003042	Elbow dislocation
OMIM:613805	ORC1	4998	HP:0000343	Long philtrum
OMIM:613805	ORC1	4998	HP:0001511	Intrauterine growth retardation
OMIM:613805	ORC1	4998	HP:0000325	Triangular face
OMIM:613805	ORC1	4998	HP:0000028	Cryptorchidism
OMIM:613805	ORC4	5000	HP:0001270	Motor delay
OMIM:613805	ORC4	5000	HP:0006443	Patellar aplasia
OMIM:613805	ORC4	5000	HP:0000007	Autosomal recessive inheritance
OMIM:613805	ORC4	5000	HP:0000327	Hypoplasia of the maxilla
OMIM:613805	ORC4	5000	HP:0001263	Global developmental delay
OMIM:613805	ORC4	5000	HP:0002750	Delayed skeletal maturation
OMIM:613805	ORC4	5000	HP:0008551	Microtia
OMIM:613805	ORC4	5000	HP:0001508	Failure to thrive
OMIM:613805	ORC4	5000	HP:0000347	Micrognathia
OMIM:613805	ORC4	5000	HP:0011968	Feeding difficulties
OMIM:613805	ORC4	5000	HP:0000369	Low-set ears
OMIM:613805	ORC4	5000	HP:0000252	Microcephaly
OMIM:613805	ORC4	5000	HP:0003100	Slender long bone
OMIM:613805	ORC4	5000	HP:0002020	Gastroesophageal reflux
OMIM:613805	ORC4	5000	HP:0000054	Micropenis
OMIM:613805	ORC4	5000	HP:0003042	Elbow dislocation
OMIM:613805	ORC4	5000	HP:0000343	Long philtrum
OMIM:613805	ORC4	5000	HP:0001511	Intrauterine growth retardation
OMIM:613805	ORC4	5000	HP:0000325	Triangular face
OMIM:613805	ORC4	5000	HP:0000028	Cryptorchidism
OMIM:613805	ORC6	23594	HP:0001270	Motor delay
OMIM:613805	ORC6	23594	HP:0006443	Patellar aplasia
OMIM:613805	ORC6	23594	HP:0000007	Autosomal recessive inheritance
OMIM:613805	ORC6	23594	HP:0000327	Hypoplasia of the maxilla
OMIM:613805	ORC6	23594	HP:0001263	Global developmental delay
OMIM:613805	ORC6	23594	HP:0002750	Delayed skeletal maturation
OMIM:613805	ORC6	23594	HP:0008551	Microtia
OMIM:613805	ORC6	23594	HP:0001508	Failure to thrive
OMIM:613805	ORC6	23594	HP:0000347	Micrognathia
OMIM:613805	ORC6	23594	HP:0011968	Feeding difficulties
OMIM:613805	ORC6	23594	HP:0000369	Low-set ears
OMIM:613805	ORC6	23594	HP:0000252	Microcephaly
OMIM:613805	ORC6	23594	HP:0003100	Slender long bone
OMIM:613805	ORC6	23594	HP:0002020	Gastroesophageal reflux
OMIM:613805	ORC6	23594	HP:0000054	Micropenis
OMIM:613805	ORC6	23594	HP:0003042	Elbow dislocation
OMIM:613805	ORC6	23594	HP:0000343	Long philtrum
OMIM:613805	ORC6	23594	HP:0001511	Intrauterine growth retardation
OMIM:613805	ORC6	23594	HP:0000325	Triangular face
OMIM:613805	ORC6	23594	HP:0000028	Cryptorchidism
OMIM:613805	CDC6	990	HP:0001270	Motor delay
OMIM:613805	CDC6	990	HP:0006443	Patellar aplasia
OMIM:613805	CDC6	990	HP:0000007	Autosomal recessive inheritance
OMIM:613805	CDC6	990	HP:0000327	Hypoplasia of the maxilla
OMIM:613805	CDC6	990	HP:0001263	Global developmental delay
OMIM:613805	CDC6	990	HP:0002750	Delayed skeletal maturation
OMIM:613805	CDC6	990	HP:0008551	Microtia
OMIM:613805	CDC6	990	HP:0001508	Failure to thrive
OMIM:613805	CDC6	990	HP:0000347	Micrognathia
OMIM:613805	CDC6	990	HP:0011968	Feeding difficulties
OMIM:613805	CDC6	990	HP:0000369	Low-set ears
OMIM:613805	CDC6	990	HP:0000252	Microcephaly
OMIM:613805	CDC6	990	HP:0003100	Slender long bone
OMIM:613805	CDC6	990	HP:0002020	Gastroesophageal reflux
OMIM:613805	CDC6	990	HP:0000054	Micropenis
OMIM:613805	CDC6	990	HP:0003042	Elbow dislocation
OMIM:613805	CDC6	990	HP:0000343	Long philtrum
OMIM:613805	CDC6	990	HP:0001511	Intrauterine growth retardation
OMIM:613805	CDC6	990	HP:0000325	Triangular face
OMIM:613805	CDC6	990	HP:0000028	Cryptorchidism
OMIM:162100	SEPT9	10801	HP:0001271	Polyneuropathy
OMIM:162100	SEPT9	10801	HP:0000175	Cleft palate
OMIM:162100	SEPT9	10801	HP:0002167	Neurological speech impairment
OMIM:162100	SEPT9	10801	HP:0001324	Muscle weakness
OMIM:162100	SEPT9	10801	HP:0004322	Short stature
OMIM:162100	SEPT9	10801	HP:0000601	Hypotelorism
OMIM:162100	SEPT9	10801	HP:0001063	Acrocyanosis
OMIM:162100	SEPT9	10801	HP:0000912	Sprengel anomaly
OMIM:162100	SEPT9	10801	HP:0000160	Narrow mouth
OMIM:162100	SEPT9	10801	HP:0003401	Paresthesia
OMIM:162100	SEPT9	10801	HP:0000369	Low-set ears
OMIM:162100	SEPT9	10801	HP:0000581	Blepharophimosis
OMIM:162100	SEPT9	10801	HP:0000582	Upslanted palpebral fissure
OMIM:162100	SEPT9	10801	HP:0000202	Oral cleft
OMIM:162100	SEPT9	10801	HP:0000311	Round face
OMIM:162100	SEPT9	10801	HP:0002360	Sleep disturbance
OMIM:162100	SEPT9	10801	HP:0002829	Arthralgia
OMIM:162100	SEPT9	10801	HP:0009830	Peripheral neuropathy
OMIM:162100	SEPT9	10801	HP:0000006	Autosomal dominant inheritance
OMIM:162100	SEPT9	10801	HP:0003457	EMG abnormality
OMIM:162100	SEPT9	10801	HP:0003202	Skeletal muscle atrophy
OMIM:162100	SEPT9	10801	HP:0005280	Depressed nasal bridge
OMIM:162100	SEPT9	10801	HP:0000324	Facial asymmetry
OMIM:162100	SEPT9	10801	HP:0002093	Respiratory insufficiency
OMIM:162100	SEPT9	10801	HP:0000286	Epicanthus
OMIM:162100	SEPT9	10801	HP:0001265	Hyporeflexia
OMIM:162100	SEPT9	10801	HP:0000490	Deeply set eye
OMIM:162100	SEPT9	10801	HP:0000508	Ptosis
OMIM:610455	SAMD9	54809	HP:0000509	Conjunctivitis
OMIM:610455	SAMD9	54809	HP:0000007	Autosomal recessive inheritance
OMIM:610455	SAMD9	54809	HP:0000230	Gingivitis
OMIM:610455	SAMD9	54809	HP:0003761	Calcinosis
OMIM:610455	SAMD9	54809	HP:0000951	Abnormality of the skin
OMIM:614039	TUBB3	10381	HP:0001274	Agenesis of corpus callosum
OMIM:614039	TUBB3	10381	HP:0001257	Spasticity
OMIM:614039	TUBB3	10381	HP:0002342	Intellectual disability, moderate
OMIM:614039	TUBB3	10381	HP:0000639	Nystagmus
OMIM:614039	TUBB3	10381	HP:0003577	Congenital onset
OMIM:614039	TUBB3	10381	HP:0000006	Autosomal dominant inheritance
OMIM:614039	TUBB3	10381	HP:0001250	Seizures
OMIM:614039	TUBB3	10381	HP:0002126	Polymicrogyria
OMIM:614039	TUBB3	10381	HP:0008936	Muscular hypotonia of the trunk
OMIM:614039	TUBB3	10381	HP:0000486	Strabismus
OMIM:614039	TUBB3	10381	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614039	TUBB3	10381	HP:0001263	Global developmental delay
OMIM:614039	TUBB3	10381	HP:0002539	Cortical dysplasia
OMIM:614039	TUBB3	10381	HP:0000252	Microcephaly
OMIM:614039	TUBB3	10381	HP:0002365	Hypoplasia of the brainstem
OMIM:614190	PRKAR1A	5573	HP:0001578	Hypercortisolism
OMIM:614190	PRKAR1A	5573	HP:0008221	Adrenal hyperplasia
OMIM:614190	PRKAR1A	5573	HP:0000006	Autosomal dominant inheritance
OMIM:614190	PDE11A	50940	HP:0001578	Hypercortisolism
OMIM:614190	PDE11A	50940	HP:0008221	Adrenal hyperplasia
OMIM:614190	PDE11A	50940	HP:0000006	Autosomal dominant inheritance
OMIM:614190	PDE8B	8622	HP:0001578	Hypercortisolism
OMIM:614190	PDE8B	8622	HP:0008221	Adrenal hyperplasia
OMIM:614190	PDE8B	8622	HP:0000006	Autosomal dominant inheritance
OMIM:614190	PRKACA	5566	HP:0001578	Hypercortisolism
OMIM:614190	PRKACA	5566	HP:0008221	Adrenal hyperplasia
OMIM:614190	PRKACA	5566	HP:0000006	Autosomal dominant inheritance
OMIM:602197	CDR3	8163	HP:0001317	Abnormality of the cerebellum
OMIM:613673	KLF1	10661	HP:0004322	Short stature
OMIM:613673	KLF1	10661	HP:0000006	Autosomal dominant inheritance
OMIM:613673	KLF1	10661	HP:0002240	Hepatomegaly
OMIM:613673	KLF1	10661	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613673	KLF1	10661	HP:0001744	Splenomegaly
OMIM:613673	KLF1	10661	HP:0001923	Reticulocytosis
OMIM:613673	KLF1	10661	HP:0003577	Congenital onset
OMIM:613673	KLF1	10661	HP:0010972	Anemia of inadequate production
OMIM:613673	KLF1	10661	HP:0002904	Hyperbilirubinemia
OMIM:613673	KLF1	10661	HP:0001789	Hydrops fetalis
OMIM:273300	FGFR3	2261	HP:0000133	Gonadal dysgenesis
OMIM:273300	FGFR3	2261	HP:0003745	Sporadic
OMIM:273300	FGFR3	2261	HP:0000028	Cryptorchidism
OMIM:273300	FGFR3	2261	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:273300	KIT	3815	HP:0000133	Gonadal dysgenesis
OMIM:273300	KIT	3815	HP:0003745	Sporadic
OMIM:273300	KIT	3815	HP:0000028	Cryptorchidism
OMIM:273300	KIT	3815	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:273300	SPRY4	81848	HP:0000133	Gonadal dysgenesis
OMIM:273300	SPRY4	81848	HP:0003745	Sporadic
OMIM:273300	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:273300	SPRY4	81848	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:273300	STK11	6794	HP:0000133	Gonadal dysgenesis
OMIM:273300	STK11	6794	HP:0003745	Sporadic
OMIM:273300	STK11	6794	HP:0000028	Cryptorchidism
OMIM:273300	STK11	6794	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:273300	KITLG	4254	HP:0000133	Gonadal dysgenesis
OMIM:273300	KITLG	4254	HP:0003745	Sporadic
OMIM:273300	KITLG	4254	HP:0000028	Cryptorchidism
OMIM:273300	KITLG	4254	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:113620	TFAP2A	7020	HP:0000396	Overfolded helix
OMIM:113620	TFAP2A	7020	HP:0006610	Wide intermamillary distance
OMIM:113620	TFAP2A	7020	HP:0000369	Low-set ears
OMIM:113620	TFAP2A	7020	HP:0000252	Microcephaly
OMIM:113620	TFAP2A	7020	HP:0000486	Strabismus
OMIM:113620	TFAP2A	7020	HP:0002162	Low posterior hairline
OMIM:113620	TFAP2A	7020	HP:0000545	Myopia
OMIM:113620	TFAP2A	7020	HP:0010566	Hamartoma
OMIM:113620	TFAP2A	7020	HP:0005280	Depressed nasal bridge
OMIM:113620	TFAP2A	7020	HP:0000347	Micrognathia
OMIM:113620	TFAP2A	7020	HP:0002211	White forelock
OMIM:113620	TFAP2A	7020	HP:0000518	Cataract
OMIM:113620	TFAP2A	7020	HP:0001611	Nasal speech
OMIM:113620	TFAP2A	7020	HP:0000368	Low-set, posteriorly rotated ears
OMIM:113620	TFAP2A	7020	HP:0001804	Hypoplastic fingernail
OMIM:113620	TFAP2A	7020	HP:0000405	Conductive hearing impairment
OMIM:113620	TFAP2A	7020	HP:0008551	Microtia
OMIM:113620	TFAP2A	7020	HP:0000508	Ptosis
OMIM:113620	TFAP2A	7020	HP:0001256	Intellectual disability, mild
OMIM:113620	TFAP2A	7020	HP:0000506	Telecanthus
OMIM:113620	TFAP2A	7020	HP:0000639	Nystagmus
OMIM:113620	TFAP2A	7020	HP:0002216	Premature graying of hair
OMIM:113620	TFAP2A	7020	HP:0004467	Preauricular pit
OMIM:113620	TFAP2A	7020	HP:0000003	Multicystic kidney dysplasia
OMIM:113620	TFAP2A	7020	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:113620	TFAP2A	7020	HP:0000612	Iris coloboma
OMIM:113620	TFAP2A	7020	HP:0001057	Aplasia cutis congenita
OMIM:113620	TFAP2A	7020	HP:0000407	Sensorineural hearing impairment
OMIM:113620	TFAP2A	7020	HP:0001608	Abnormality of the voice
OMIM:113620	TFAP2A	7020	HP:0000104	Renal agenesis
OMIM:113620	TFAP2A	7020	HP:0000272	Malar flattening
OMIM:113620	TFAP2A	7020	HP:0004334	Dermal atrophy
OMIM:113620	TFAP2A	7020	HP:0009778	Short thumb
OMIM:113620	TFAP2A	7020	HP:0000006	Autosomal dominant inheritance
OMIM:113620	TFAP2A	7020	HP:0002808	Kyphosis
OMIM:113620	TFAP2A	7020	HP:0001250	Seizures
OMIM:113620	TFAP2A	7020	HP:0000316	Hypertelorism
OMIM:113620	TFAP2A	7020	HP:0000047	Hypospadias
OMIM:113620	TFAP2A	7020	HP:0002987	Elbow flexion contracture
OMIM:113620	TFAP2A	7020	HP:0000480	Retinal coloboma
OMIM:113620	TFAP2A	7020	HP:0000568	Microphthalmia
OMIM:113620	TFAP2A	7020	HP:0000582	Upslanted palpebral fissure
OMIM:113620	TFAP2A	7020	HP:0000987	Atypical scarring of skin
OMIM:113620	TFAP2A	7020	HP:0000174	Abnormality of the palate
OMIM:113620	TFAP2A	7020	HP:0000455	Broad nasal tip
OMIM:113620	TFAP2A	7020	HP:0001177	Preaxial hand polydactyly
OMIM:113620	TFAP2A	7020	HP:0004322	Short stature
OMIM:113620	TFAP2A	7020	HP:0009623	Proximal placement of thumb
OMIM:113620	TFAP2A	7020	HP:0000268	Dolichocephaly
OMIM:113620	TFAP2A	7020	HP:0003307	Hyperlordosis
OMIM:113620	TFAP2A	7020	HP:0000470	Short neck
OMIM:113620	TFAP2A	7020	HP:0001511	Intrauterine growth retardation
OMIM:113620	TFAP2A	7020	HP:0000164	Abnormality of the teeth
OMIM:113620	TFAP2A	7020	HP:0002167	Neurological speech impairment
OMIM:113620	TFAP2A	7020	HP:0000107	Renal cyst
OMIM:113620	TFAP2A	7020	HP:0001231	Abnormality of the fingernails
OMIM:113620	TFAP2A	7020	HP:0000954	Single transverse palmar crease
OMIM:113620	TFAP2A	7020	HP:0004209	Clinodactyly of the 5th finger
OMIM:113620	TFAP2A	7020	HP:0002021	Pyloric stenosis
OMIM:113620	TFAP2A	7020	HP:0100335	Non-midline cleft lip
OMIM:113620	TFAP2A	7020	HP:0002020	Gastroesophageal reflux
OMIM:113620	TFAP2A	7020	HP:0000482	Microcornea
OMIM:113620	TFAP2A	7020	HP:0000232	Everted lower lip vermilion
OMIM:113620	TFAP2A	7020	HP:0002558	Supernumerary nipple
OMIM:113620	TFAP2A	7020	HP:0000175	Cleft palate
OMIM:113620	TFAP2A	7020	HP:0009804	Reduced number of teeth
OMIM:113620	TFAP2A	7020	HP:0008572	External ear malformation
OMIM:113620	TFAP2A	7020	HP:0000691	Microdontia
OMIM:113620	TFAP2A	7020	HP:0000366	Abnormality of the nose
OMIM:113620	TFAP2A	7020	HP:0000567	Chorioretinal coloboma
OMIM:113620	TFAP2A	7020	HP:0000632	Lacrimation abnormality
OMIM:113620	TFAP2A	7020	HP:0002335	Agenesis of cerebellar vermis
OMIM:113620	TFAP2A	7020	HP:0000204	Cleft upper lip
OMIM:113620	TFAP2A	7020	HP:0000528	Anophthalmia
OMIM:113620	TFAP2A	7020	HP:0008678	Renal hypoplasia/aplasia
OMIM:113620	TFAP2A	7020	HP:0000028	Cryptorchidism
OMIM:113620	TFAP2A	7020	HP:0008897	Postnatal growth retardation
OMIM:113620	TFAP2A	7020	HP:0010767	Sacrococcygeal pilonidal abnormality
OMIM:309300	CHRDL1	91851	HP:0000485	Megalocornea
OMIM:309300	CHRDL1	91851	HP:0000483	Astigmatism
OMIM:309300	CHRDL1	91851	HP:0001419	X-linked recessive inheritance
OMIM:309300	CHRDL1	91851	HP:0001132	Lens subluxation
OMIM:309300	CHRDL1	91851	HP:0000541	Retinal detachment
OMIM:309300	CHRDL1	91851	HP:0001084	Corneal arcus
OMIM:309300	CHRDL1	91851	HP:0000518	Cataract
OMIM:248370	LMNA	4000	HP:0000007	Autosomal recessive inheritance
OMIM:248370	LMNA	4000	HP:0003119	Abnormality of lipid metabolism
OMIM:248370	LMNA	4000	HP:0000270	Delayed cranial suture closure
OMIM:248370	LMNA	4000	HP:0000347	Micrognathia
OMIM:248370	LMNA	4000	HP:0007495	Prematurely aged appearance
OMIM:248370	LMNA	4000	HP:0100679	Lack of skin elasticity
OMIM:248370	LMNA	4000	HP:0000174	Abnormality of the palate
OMIM:248370	LMNA	4000	HP:0003077	Hyperlipidemia
OMIM:248370	LMNA	4000	HP:0003761	Calcinosis
OMIM:248370	LMNA	4000	HP:0000218	High palate
OMIM:248370	LMNA	4000	HP:0000520	Proptosis
OMIM:248370	LMNA	4000	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:248370	LMNA	4000	HP:0001371	Flexion contracture
OMIM:248370	LMNA	4000	HP:0000534	Abnormality of the eyebrow
OMIM:248370	LMNA	4000	HP:0002797	Osteolysis
OMIM:248370	LMNA	4000	HP:0001387	Joint stiffness
OMIM:248370	LMNA	4000	HP:0004322	Short stature
OMIM:248370	LMNA	4000	HP:0000685	Hypoplasia of teeth
OMIM:248370	LMNA	4000	HP:0003621	Juvenile onset
OMIM:248370	LMNA	4000	HP:0008897	Postnatal growth retardation
OMIM:248370	LMNA	4000	HP:0002645	Wormian bones
OMIM:248370	LMNA	4000	HP:0001002	Decreased subcutaneous fat
OMIM:248370	LMNA	4000	HP:0001425	Heterogeneous
OMIM:248370	LMNA	4000	HP:0004334	Dermal atrophy
OMIM:248370	LMNA	4000	HP:0000293	Full cheeks
OMIM:248370	LMNA	4000	HP:0000833	Glucose intolerance
OMIM:248370	LMNA	4000	HP:0000365	Hearing impairment
OMIM:248370	LMNA	4000	HP:0003074	Hyperglycemia
OMIM:248370	LMNA	4000	HP:0000164	Abnormality of the teeth
OMIM:248370	LMNA	4000	HP:0000842	Hyperinsulinemia
OMIM:248370	LMNA	4000	HP:0000855	Insulin resistance
OMIM:248370	LMNA	4000	HP:0000894	Short clavicles
OMIM:248370	LMNA	4000	HP:0000518	Cataract
OMIM:248370	LMNA	4000	HP:0001252	Muscular hypotonia
OMIM:248370	LMNA	4000	HP:0009882	Short distal phalanx of finger
OMIM:248370	LMNA	4000	HP:0000889	Abnormality of the clavicle
OMIM:248370	LMNA	4000	HP:0000678	Dental crowding
OMIM:248370	LMNA	4000	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:248370	LMNA	4000	HP:0001000	Abnormality of skin pigmentation
OMIM:248370	LMNA	4000	HP:0002829	Arthralgia
OMIM:248370	LMNA	4000	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:248370	LMNA	4000	HP:0002209	Sparse scalp hair
OMIM:248370	LMNA	4000	HP:0009125	Lipodystrophy
OMIM:248370	LMNA	4000	HP:0001596	Alopecia
OMIM:248370	LMNA	4000	HP:0001376	Limitation of joint mobility
OMIM:302045	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:302045	TPM1	7168	HP:0001417	X-linked inheritance
OMIM:302045	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:302045	CRYAB	1410	HP:0001417	X-linked inheritance
OMIM:302045	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:302045	ACTC1	70	HP:0001417	X-linked inheritance
OMIM:302045	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:302045	RAF1	5894	HP:0001417	X-linked inheritance
OMIM:302045	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:302045	GATAD1	57798	HP:0001417	X-linked inheritance
OMIM:302045	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:302045	LAMA4	3910	HP:0001417	X-linked inheritance
OMIM:302045	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:302045	TMPO	7112	HP:0001417	X-linked inheritance
OMIM:302045	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:302045	DES	1674	HP:0001417	X-linked inheritance
OMIM:302045	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:302045	ABCC9	10060	HP:0001417	X-linked inheritance
OMIM:302045	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:302045	MYH6	4624	HP:0001417	X-linked inheritance
OMIM:302045	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:302045	MYH7	4625	HP:0001417	X-linked inheritance
OMIM:302045	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:302045	LDB3	11155	HP:0001417	X-linked inheritance
OMIM:302045	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:302045	ACTN2	88	HP:0001417	X-linked inheritance
OMIM:302045	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:302045	TXNRD2	10587	HP:0001417	X-linked inheritance
OMIM:302045	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:302045	DMD	1756	HP:0001417	X-linked inheritance
OMIM:302045	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:302045	TNNC1	7134	HP:0001417	X-linked inheritance
OMIM:302045	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:302045	PSEN1	5663	HP:0001417	X-linked inheritance
OMIM:302045	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:302045	PSEN2	5664	HP:0001417	X-linked inheritance
OMIM:302045	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:302045	TNNI3	7137	HP:0001417	X-linked inheritance
OMIM:302045	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:302045	FHL2	2274	HP:0001417	X-linked inheritance
OMIM:302045	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:302045	TNNT2	7139	HP:0001417	X-linked inheritance
OMIM:302045	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:302045	DSG2	1829	HP:0001417	X-linked inheritance
OMIM:302045	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:302045	PLN	5350	HP:0001417	X-linked inheritance
OMIM:302045	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:302045	PRDM16	63976	HP:0001417	X-linked inheritance
OMIM:302045	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:302045	TTN	7273	HP:0001417	X-linked inheritance
OMIM:302045	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:302045	NEXN	91624	HP:0001417	X-linked inheritance
OMIM:302045	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:302045	FKTN	2218	HP:0001417	X-linked inheritance
OMIM:302045	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:302045	SGCD	6444	HP:0001417	X-linked inheritance
OMIM:302045	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:302045	TCAP	8557	HP:0001417	X-linked inheritance
OMIM:302045	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:302045	CSRP3	8048	HP:0001417	X-linked inheritance
OMIM:302045	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:302045	RBM20	282996	HP:0001417	X-linked inheritance
OMIM:302045	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:302045	SDHA	6389	HP:0001417	X-linked inheritance
OMIM:302045	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:302045	TAZ	6901	HP:0001417	X-linked inheritance
OMIM:302045	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:302045	VCL	7414	HP:0001417	X-linked inheritance
OMIM:302045	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:302045	MYPN	84665	HP:0001417	X-linked inheritance
OMIM:302045	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:302045	SCN5A	6331	HP:0001417	X-linked inheritance
OMIM:302045	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:302045	BAG3	9531	HP:0001417	X-linked inheritance
OMIM:302045	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:302045	DOLK	22845	HP:0001417	X-linked inheritance
OMIM:302045	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:302045	MYBPC3	4607	HP:0001417	X-linked inheritance
OMIM:613812	CYP7B1	9420	HP:0001399	Hepatic failure
OMIM:613812	CYP7B1	9420	HP:0002240	Hepatomegaly
OMIM:613812	CYP7B1	9420	HP:0000952	Jaundice
OMIM:613812	CYP7B1	9420	HP:0000989	Pruritus
OMIM:613812	CYP7B1	9420	HP:0001744	Splenomegaly
OMIM:613812	CYP7B1	9420	HP:0001394	Cirrhosis
OMIM:613812	CYP7B1	9420	HP:0003256	Abnormality of the coagulation cascade
OMIM:613812	CYP7B1	9420	HP:0012115	Hepatitis
OMIM:613812	CYP7B1	9420	HP:0002014	Diarrhea
OMIM:613812	CYP7B1	9420	HP:0002570	Steatorrhea
OMIM:613812	CYP7B1	9420	HP:0000007	Autosomal recessive inheritance
OMIM:613812	CYP7B1	9420	HP:0001406	Intrahepatic cholestasis
OMIM:613812	CYP7B1	9420	HP:0002239	Gastrointestinal hemorrhage
OMIM:613812	CYP7B1	9420	HP:0001508	Failure to thrive
OMIM:613812	CYP7B1	9420	HP:0011985	Acholic stools
OMIM:613812	CYP7B1	9420	HP:0002910	Elevated hepatic transaminases
OMIM:613812	CYP7B1	9420	HP:0003623	Neonatal onset
OMIM:613989	ACD	65057	HP:0001644	Dilated cardiomyopathy
OMIM:613989	ACD	65057	HP:0001873	Thrombocytopenia
OMIM:613989	ACD	65057	HP:0003812	Phenotypic variability
OMIM:613989	ACD	65057	HP:0001263	Global developmental delay
OMIM:613989	ACD	65057	HP:0001882	Leukopenia
OMIM:613989	ACD	65057	HP:0005528	Bone marrow hypocellularity
OMIM:613989	ACD	65057	HP:0000252	Microcephaly
OMIM:613989	ACD	65057	HP:0001508	Failure to thrive
OMIM:613989	ACD	65057	HP:0002028	Chronic diarrhea
OMIM:613989	ACD	65057	HP:0002216	Premature graying of hair
OMIM:613989	ACD	65057	HP:0000006	Autosomal dominant inheritance
OMIM:613989	ACD	65057	HP:0000164	Abnormality of the teeth
OMIM:613989	ACD	65057	HP:0000939	Osteoporosis
OMIM:613989	ACD	65057	HP:0002164	Nail dysplasia
OMIM:613989	ACD	65057	HP:0000007	Autosomal recessive inheritance
OMIM:613989	ACD	65057	HP:0004322	Short stature
OMIM:613989	ACD	65057	HP:0002206	Pulmonary fibrosis
OMIM:613989	ACD	65057	HP:0001321	Cerebellar hypoplasia
OMIM:613989	ACD	65057	HP:0001915	Aplastic anemia
OMIM:613989	PARN	5073	HP:0001644	Dilated cardiomyopathy
OMIM:613989	PARN	5073	HP:0001873	Thrombocytopenia
OMIM:613989	PARN	5073	HP:0003812	Phenotypic variability
OMIM:613989	PARN	5073	HP:0001263	Global developmental delay
OMIM:613989	PARN	5073	HP:0001882	Leukopenia
OMIM:613989	PARN	5073	HP:0005528	Bone marrow hypocellularity
OMIM:613989	PARN	5073	HP:0000252	Microcephaly
OMIM:613989	PARN	5073	HP:0001508	Failure to thrive
OMIM:613989	PARN	5073	HP:0002028	Chronic diarrhea
OMIM:613989	PARN	5073	HP:0002216	Premature graying of hair
OMIM:613989	PARN	5073	HP:0000006	Autosomal dominant inheritance
OMIM:613989	PARN	5073	HP:0000164	Abnormality of the teeth
OMIM:613989	PARN	5073	HP:0000939	Osteoporosis
OMIM:613989	PARN	5073	HP:0002164	Nail dysplasia
OMIM:613989	PARN	5073	HP:0000007	Autosomal recessive inheritance
OMIM:613989	PARN	5073	HP:0004322	Short stature
OMIM:613989	PARN	5073	HP:0002206	Pulmonary fibrosis
OMIM:613989	PARN	5073	HP:0001321	Cerebellar hypoplasia
OMIM:613989	PARN	5073	HP:0001915	Aplastic anemia
OMIM:613989	NOP10	55505	HP:0001644	Dilated cardiomyopathy
OMIM:613989	NOP10	55505	HP:0001873	Thrombocytopenia
OMIM:613989	NOP10	55505	HP:0003812	Phenotypic variability
OMIM:613989	NOP10	55505	HP:0001263	Global developmental delay
OMIM:613989	NOP10	55505	HP:0001882	Leukopenia
OMIM:613989	NOP10	55505	HP:0005528	Bone marrow hypocellularity
OMIM:613989	NOP10	55505	HP:0000252	Microcephaly
OMIM:613989	NOP10	55505	HP:0001508	Failure to thrive
OMIM:613989	NOP10	55505	HP:0002028	Chronic diarrhea
OMIM:613989	NOP10	55505	HP:0002216	Premature graying of hair
OMIM:613989	NOP10	55505	HP:0000006	Autosomal dominant inheritance
OMIM:613989	NOP10	55505	HP:0000164	Abnormality of the teeth
OMIM:613989	NOP10	55505	HP:0000939	Osteoporosis
OMIM:613989	NOP10	55505	HP:0002164	Nail dysplasia
OMIM:613989	NOP10	55505	HP:0000007	Autosomal recessive inheritance
OMIM:613989	NOP10	55505	HP:0004322	Short stature
OMIM:613989	NOP10	55505	HP:0002206	Pulmonary fibrosis
OMIM:613989	NOP10	55505	HP:0001321	Cerebellar hypoplasia
OMIM:613989	NOP10	55505	HP:0001915	Aplastic anemia
OMIM:613989	NHP2	55651	HP:0001644	Dilated cardiomyopathy
OMIM:613989	NHP2	55651	HP:0001873	Thrombocytopenia
OMIM:613989	NHP2	55651	HP:0003812	Phenotypic variability
OMIM:613989	NHP2	55651	HP:0001263	Global developmental delay
OMIM:613989	NHP2	55651	HP:0001882	Leukopenia
OMIM:613989	NHP2	55651	HP:0005528	Bone marrow hypocellularity
OMIM:613989	NHP2	55651	HP:0000252	Microcephaly
OMIM:613989	NHP2	55651	HP:0001508	Failure to thrive
OMIM:613989	NHP2	55651	HP:0002028	Chronic diarrhea
OMIM:613989	NHP2	55651	HP:0002216	Premature graying of hair
OMIM:613989	NHP2	55651	HP:0000006	Autosomal dominant inheritance
OMIM:613989	NHP2	55651	HP:0000164	Abnormality of the teeth
OMIM:613989	NHP2	55651	HP:0000939	Osteoporosis
OMIM:613989	NHP2	55651	HP:0002164	Nail dysplasia
OMIM:613989	NHP2	55651	HP:0000007	Autosomal recessive inheritance
OMIM:613989	NHP2	55651	HP:0004322	Short stature
OMIM:613989	NHP2	55651	HP:0002206	Pulmonary fibrosis
OMIM:613989	NHP2	55651	HP:0001321	Cerebellar hypoplasia
OMIM:613989	NHP2	55651	HP:0001915	Aplastic anemia
OMIM:613989	USB1	79650	HP:0001644	Dilated cardiomyopathy
OMIM:613989	USB1	79650	HP:0001873	Thrombocytopenia
OMIM:613989	USB1	79650	HP:0003812	Phenotypic variability
OMIM:613989	USB1	79650	HP:0001263	Global developmental delay
OMIM:613989	USB1	79650	HP:0001882	Leukopenia
OMIM:613989	USB1	79650	HP:0005528	Bone marrow hypocellularity
OMIM:613989	USB1	79650	HP:0000252	Microcephaly
OMIM:613989	USB1	79650	HP:0001508	Failure to thrive
OMIM:613989	USB1	79650	HP:0002028	Chronic diarrhea
OMIM:613989	USB1	79650	HP:0002216	Premature graying of hair
OMIM:613989	USB1	79650	HP:0000006	Autosomal dominant inheritance
OMIM:613989	USB1	79650	HP:0000164	Abnormality of the teeth
OMIM:613989	USB1	79650	HP:0000939	Osteoporosis
OMIM:613989	USB1	79650	HP:0002164	Nail dysplasia
OMIM:613989	USB1	79650	HP:0000007	Autosomal recessive inheritance
OMIM:613989	USB1	79650	HP:0004322	Short stature
OMIM:613989	USB1	79650	HP:0002206	Pulmonary fibrosis
OMIM:613989	USB1	79650	HP:0001321	Cerebellar hypoplasia
OMIM:613989	USB1	79650	HP:0001915	Aplastic anemia
OMIM:613989	TERC	7012	HP:0001644	Dilated cardiomyopathy
OMIM:613989	TERC	7012	HP:0001873	Thrombocytopenia
OMIM:613989	TERC	7012	HP:0003812	Phenotypic variability
OMIM:613989	TERC	7012	HP:0001263	Global developmental delay
OMIM:613989	TERC	7012	HP:0001882	Leukopenia
OMIM:613989	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:613989	TERC	7012	HP:0000252	Microcephaly
OMIM:613989	TERC	7012	HP:0001508	Failure to thrive
OMIM:613989	TERC	7012	HP:0002028	Chronic diarrhea
OMIM:613989	TERC	7012	HP:0002216	Premature graying of hair
OMIM:613989	TERC	7012	HP:0000006	Autosomal dominant inheritance
OMIM:613989	TERC	7012	HP:0000164	Abnormality of the teeth
OMIM:613989	TERC	7012	HP:0000939	Osteoporosis
OMIM:613989	TERC	7012	HP:0002164	Nail dysplasia
OMIM:613989	TERC	7012	HP:0000007	Autosomal recessive inheritance
OMIM:613989	TERC	7012	HP:0004322	Short stature
OMIM:613989	TERC	7012	HP:0002206	Pulmonary fibrosis
OMIM:613989	TERC	7012	HP:0001321	Cerebellar hypoplasia
OMIM:613989	TERC	7012	HP:0001915	Aplastic anemia
OMIM:613989	TINF2	26277	HP:0001644	Dilated cardiomyopathy
OMIM:613989	TINF2	26277	HP:0001873	Thrombocytopenia
OMIM:613989	TINF2	26277	HP:0003812	Phenotypic variability
OMIM:613989	TINF2	26277	HP:0001263	Global developmental delay
OMIM:613989	TINF2	26277	HP:0001882	Leukopenia
OMIM:613989	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:613989	TINF2	26277	HP:0000252	Microcephaly
OMIM:613989	TINF2	26277	HP:0001508	Failure to thrive
OMIM:613989	TINF2	26277	HP:0002028	Chronic diarrhea
OMIM:613989	TINF2	26277	HP:0002216	Premature graying of hair
OMIM:613989	TINF2	26277	HP:0000006	Autosomal dominant inheritance
OMIM:613989	TINF2	26277	HP:0000164	Abnormality of the teeth
OMIM:613989	TINF2	26277	HP:0000939	Osteoporosis
OMIM:613989	TINF2	26277	HP:0002164	Nail dysplasia
OMIM:613989	TINF2	26277	HP:0000007	Autosomal recessive inheritance
OMIM:613989	TINF2	26277	HP:0004322	Short stature
OMIM:613989	TINF2	26277	HP:0002206	Pulmonary fibrosis
OMIM:613989	TINF2	26277	HP:0001321	Cerebellar hypoplasia
OMIM:613989	TINF2	26277	HP:0001915	Aplastic anemia
OMIM:613989	RTEL1	51750	HP:0001644	Dilated cardiomyopathy
OMIM:613989	RTEL1	51750	HP:0001873	Thrombocytopenia
OMIM:613989	RTEL1	51750	HP:0003812	Phenotypic variability
OMIM:613989	RTEL1	51750	HP:0001263	Global developmental delay
OMIM:613989	RTEL1	51750	HP:0001882	Leukopenia
OMIM:613989	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
OMIM:613989	RTEL1	51750	HP:0000252	Microcephaly
OMIM:613989	RTEL1	51750	HP:0001508	Failure to thrive
OMIM:613989	RTEL1	51750	HP:0002028	Chronic diarrhea
OMIM:613989	RTEL1	51750	HP:0002216	Premature graying of hair
OMIM:613989	RTEL1	51750	HP:0000006	Autosomal dominant inheritance
OMIM:613989	RTEL1	51750	HP:0000164	Abnormality of the teeth
OMIM:613989	RTEL1	51750	HP:0000939	Osteoporosis
OMIM:613989	RTEL1	51750	HP:0002164	Nail dysplasia
OMIM:613989	RTEL1	51750	HP:0000007	Autosomal recessive inheritance
OMIM:613989	RTEL1	51750	HP:0004322	Short stature
OMIM:613989	RTEL1	51750	HP:0002206	Pulmonary fibrosis
OMIM:613989	RTEL1	51750	HP:0001321	Cerebellar hypoplasia
OMIM:613989	RTEL1	51750	HP:0001915	Aplastic anemia
OMIM:613989	TERT	7015	HP:0001644	Dilated cardiomyopathy
OMIM:613989	TERT	7015	HP:0001873	Thrombocytopenia
OMIM:613989	TERT	7015	HP:0003812	Phenotypic variability
OMIM:613989	TERT	7015	HP:0001263	Global developmental delay
OMIM:613989	TERT	7015	HP:0001882	Leukopenia
OMIM:613989	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:613989	TERT	7015	HP:0000252	Microcephaly
OMIM:613989	TERT	7015	HP:0001508	Failure to thrive
OMIM:613989	TERT	7015	HP:0002028	Chronic diarrhea
OMIM:613989	TERT	7015	HP:0002216	Premature graying of hair
OMIM:613989	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:613989	TERT	7015	HP:0000164	Abnormality of the teeth
OMIM:613989	TERT	7015	HP:0000939	Osteoporosis
OMIM:613989	TERT	7015	HP:0002164	Nail dysplasia
OMIM:613989	TERT	7015	HP:0000007	Autosomal recessive inheritance
OMIM:613989	TERT	7015	HP:0004322	Short stature
OMIM:613989	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:613989	TERT	7015	HP:0001321	Cerebellar hypoplasia
OMIM:613989	TERT	7015	HP:0001915	Aplastic anemia
OMIM:613989	DKC1	1736	HP:0001644	Dilated cardiomyopathy
OMIM:613989	DKC1	1736	HP:0001873	Thrombocytopenia
OMIM:613989	DKC1	1736	HP:0003812	Phenotypic variability
OMIM:613989	DKC1	1736	HP:0001263	Global developmental delay
OMIM:613989	DKC1	1736	HP:0001882	Leukopenia
OMIM:613989	DKC1	1736	HP:0005528	Bone marrow hypocellularity
OMIM:613989	DKC1	1736	HP:0000252	Microcephaly
OMIM:613989	DKC1	1736	HP:0001508	Failure to thrive
OMIM:613989	DKC1	1736	HP:0002028	Chronic diarrhea
OMIM:613989	DKC1	1736	HP:0002216	Premature graying of hair
OMIM:613989	DKC1	1736	HP:0000006	Autosomal dominant inheritance
OMIM:613989	DKC1	1736	HP:0000164	Abnormality of the teeth
OMIM:613989	DKC1	1736	HP:0000939	Osteoporosis
OMIM:613989	DKC1	1736	HP:0002164	Nail dysplasia
OMIM:613989	DKC1	1736	HP:0000007	Autosomal recessive inheritance
OMIM:613989	DKC1	1736	HP:0004322	Short stature
OMIM:613989	DKC1	1736	HP:0002206	Pulmonary fibrosis
OMIM:613989	DKC1	1736	HP:0001321	Cerebellar hypoplasia
OMIM:613989	DKC1	1736	HP:0001915	Aplastic anemia
OMIM:613989	CTC1	80169	HP:0001644	Dilated cardiomyopathy
OMIM:613989	CTC1	80169	HP:0001873	Thrombocytopenia
OMIM:613989	CTC1	80169	HP:0003812	Phenotypic variability
OMIM:613989	CTC1	80169	HP:0001263	Global developmental delay
OMIM:613989	CTC1	80169	HP:0001882	Leukopenia
OMIM:613989	CTC1	80169	HP:0005528	Bone marrow hypocellularity
OMIM:613989	CTC1	80169	HP:0000252	Microcephaly
OMIM:613989	CTC1	80169	HP:0001508	Failure to thrive
OMIM:613989	CTC1	80169	HP:0002028	Chronic diarrhea
OMIM:613989	CTC1	80169	HP:0002216	Premature graying of hair
OMIM:613989	CTC1	80169	HP:0000006	Autosomal dominant inheritance
OMIM:613989	CTC1	80169	HP:0000164	Abnormality of the teeth
OMIM:613989	CTC1	80169	HP:0000939	Osteoporosis
OMIM:613989	CTC1	80169	HP:0002164	Nail dysplasia
OMIM:613989	CTC1	80169	HP:0000007	Autosomal recessive inheritance
OMIM:613989	CTC1	80169	HP:0004322	Short stature
OMIM:613989	CTC1	80169	HP:0002206	Pulmonary fibrosis
OMIM:613989	CTC1	80169	HP:0001321	Cerebellar hypoplasia
OMIM:613989	CTC1	80169	HP:0001915	Aplastic anemia
OMIM:613989	WRAP53	55135	HP:0001644	Dilated cardiomyopathy
OMIM:613989	WRAP53	55135	HP:0001873	Thrombocytopenia
OMIM:613989	WRAP53	55135	HP:0003812	Phenotypic variability
OMIM:613989	WRAP53	55135	HP:0001263	Global developmental delay
OMIM:613989	WRAP53	55135	HP:0001882	Leukopenia
OMIM:613989	WRAP53	55135	HP:0005528	Bone marrow hypocellularity
OMIM:613989	WRAP53	55135	HP:0000252	Microcephaly
OMIM:613989	WRAP53	55135	HP:0001508	Failure to thrive
OMIM:613989	WRAP53	55135	HP:0002028	Chronic diarrhea
OMIM:613989	WRAP53	55135	HP:0002216	Premature graying of hair
OMIM:613989	WRAP53	55135	HP:0000006	Autosomal dominant inheritance
OMIM:613989	WRAP53	55135	HP:0000164	Abnormality of the teeth
OMIM:613989	WRAP53	55135	HP:0000939	Osteoporosis
OMIM:613989	WRAP53	55135	HP:0002164	Nail dysplasia
OMIM:613989	WRAP53	55135	HP:0000007	Autosomal recessive inheritance
OMIM:613989	WRAP53	55135	HP:0004322	Short stature
OMIM:613989	WRAP53	55135	HP:0002206	Pulmonary fibrosis
OMIM:613989	WRAP53	55135	HP:0001321	Cerebellar hypoplasia
OMIM:613989	WRAP53	55135	HP:0001915	Aplastic anemia
OMIM:148210	GJB2	2706	HP:0001097	Keratoconjunctivitis sicca
OMIM:148210	GJB2	2706	HP:0006380	Knee flexion contracture
OMIM:148210	GJB2	2706	HP:0005406	Recurrent bacterial skin infections
OMIM:148210	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:148210	GJB2	2706	HP:0000613	Photophobia
OMIM:148210	GJB2	2706	HP:0000618	Blindness
OMIM:148210	GJB2	2706	HP:0002164	Nail dysplasia
OMIM:148210	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:148210	GJB2	2706	HP:0000653	Sparse eyelashes
OMIM:148210	GJB2	2706	HP:0008404	Nail dystrophy
OMIM:148210	GJB2	2706	HP:0000535	Sparse eyebrow
OMIM:148210	GJB2	2706	HP:0001761	Pes cavus
OMIM:148210	GJB2	2706	HP:0002860	Squamous cell carcinoma
OMIM:148210	GJB2	2706	HP:0008064	Ichthyosis
OMIM:148210	GJB2	2706	HP:0000962	Hyperkeratosis
OMIM:148210	GJB2	2706	HP:0011492	Abnormality of corneal stroma
OMIM:148210	GJB2	2706	HP:0000966	Hypohidrosis
OMIM:148210	GJB2	2706	HP:0002987	Elbow flexion contracture
OMIM:148210	GJB6	10804	HP:0001097	Keratoconjunctivitis sicca
OMIM:148210	GJB6	10804	HP:0006380	Knee flexion contracture
OMIM:148210	GJB6	10804	HP:0005406	Recurrent bacterial skin infections
OMIM:148210	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:148210	GJB6	10804	HP:0000613	Photophobia
OMIM:148210	GJB6	10804	HP:0000618	Blindness
OMIM:148210	GJB6	10804	HP:0002164	Nail dysplasia
OMIM:148210	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:148210	GJB6	10804	HP:0000653	Sparse eyelashes
OMIM:148210	GJB6	10804	HP:0008404	Nail dystrophy
OMIM:148210	GJB6	10804	HP:0000535	Sparse eyebrow
OMIM:148210	GJB6	10804	HP:0001761	Pes cavus
OMIM:148210	GJB6	10804	HP:0002860	Squamous cell carcinoma
OMIM:148210	GJB6	10804	HP:0008064	Ichthyosis
OMIM:148210	GJB6	10804	HP:0000962	Hyperkeratosis
OMIM:148210	GJB6	10804	HP:0011492	Abnormality of corneal stroma
OMIM:148210	GJB6	10804	HP:0000966	Hypohidrosis
OMIM:148210	GJB6	10804	HP:0002987	Elbow flexion contracture
ORPHANET:79501	AAGAB	79719	HP:0002894	Neoplasm of the pancreas
ORPHANET:79501	AAGAB	79719	HP:0000982	Palmoplantar keratoderma
ORPHANET:79501	AAGAB	79719	HP:0009726	Renal neoplasm
ORPHANET:79501	AAGAB	79719	HP:0001597	Abnormality of the nail
ORPHANET:79501	AAGAB	79719	HP:0002665	Lymphoma
ORPHANET:79501	AAGAB	79719	HP:0100013	Neoplasm of the breast
ORPHANET:79501	AAGAB	79719	HP:0100273	Neoplasm of the colon
ORPHANET:79501	COL14A1	7373	HP:0002894	Neoplasm of the pancreas
ORPHANET:79501	COL14A1	7373	HP:0000982	Palmoplantar keratoderma
ORPHANET:79501	COL14A1	7373	HP:0009726	Renal neoplasm
ORPHANET:79501	COL14A1	7373	HP:0001597	Abnormality of the nail
ORPHANET:79501	COL14A1	7373	HP:0002665	Lymphoma
ORPHANET:79501	COL14A1	7373	HP:0100013	Neoplasm of the breast
ORPHANET:79501	COL14A1	7373	HP:0100273	Neoplasm of the colon
OMIM:615285	VPS45	11311	HP:0001882	Leukopenia
OMIM:615285	VPS45	11311	HP:0001903	Anemia
OMIM:615285	VPS45	11311	HP:0001875	Neutropenia
OMIM:615285	VPS45	11311	HP:0001873	Thrombocytopenia
OMIM:615285	VPS45	11311	HP:0002240	Hepatomegaly
OMIM:615285	VPS45	11311	HP:0001508	Failure to thrive
OMIM:615285	VPS45	11311	HP:0000007	Autosomal recessive inheritance
OMIM:615285	VPS45	11311	HP:0001263	Global developmental delay
OMIM:615285	VPS45	11311	HP:0001744	Splenomegaly
OMIM:615285	VPS45	11311	HP:0010702	Increased antibody level in blood
OMIM:615285	VPS45	11311	HP:0003593	Infantile onset
OMIM:257100	GFI1	2672	HP:0000007	Autosomal recessive inheritance
OMIM:257100	GFI1	2672	HP:0001880	Eosinophilia
OMIM:257100	ELANE	1991	HP:0000007	Autosomal recessive inheritance
OMIM:257100	ELANE	1991	HP:0001880	Eosinophilia
OMIM:257100	TCIRG1	10312	HP:0000007	Autosomal recessive inheritance
OMIM:257100	TCIRG1	10312	HP:0001880	Eosinophilia
OMIM:274270	DPYD	1806	HP:0002445	Tetraplegia
OMIM:274270	DPYD	1806	HP:0001250	Seizures
OMIM:274270	DPYD	1806	HP:0003812	Phenotypic variability
OMIM:274270	DPYD	1806	HP:0000717	Autism
OMIM:274270	DPYD	1806	HP:0000752	Hyperactivity
OMIM:274270	DPYD	1806	HP:0001274	Agenesis of corpus callosum
OMIM:274270	DPYD	1806	HP:0000750	Delayed speech and language development
OMIM:274270	DPYD	1806	HP:0000639	Nystagmus
OMIM:274270	DPYD	1806	HP:0001510	Growth delay
OMIM:274270	DPYD	1806	HP:0002059	Cerebral atrophy
OMIM:274270	DPYD	1806	HP:0001252	Muscular hypotonia
OMIM:274270	DPYD	1806	HP:0000589	Coloboma
OMIM:274270	DPYD	1806	HP:0001276	Hypertonia
OMIM:274270	DPYD	1806	HP:0001254	Lethargy
OMIM:274270	DPYD	1806	HP:0001508	Failure to thrive
OMIM:274270	DPYD	1806	HP:0001249	Intellectual disability
OMIM:274270	DPYD	1806	HP:0001270	Motor delay
OMIM:274270	DPYD	1806	HP:0000007	Autosomal recessive inheritance
OMIM:274270	DPYD	1806	HP:0000568	Microphthalmia
OMIM:274270	DPYD	1806	HP:0000252	Microcephaly
OMIM:274270	DPYD	1806	HP:0000648	Optic atrophy
OMIM:610448	SAMHD1	25939	HP:0003621	Juvenile onset
OMIM:610448	SAMHD1	25939	HP:0001597	Abnormality of the nail
OMIM:610448	SAMHD1	25939	HP:0000006	Autosomal dominant inheritance
OMIM:610448	SAMHD1	25939	HP:0002829	Arthralgia
OMIM:610448	SAMHD1	25939	HP:0200042	Skin ulcer
OMIM:610448	SAMHD1	25939	HP:0003493	Antinuclear antibody positivity
OMIM:610448	TREX1	11277	HP:0003621	Juvenile onset
OMIM:610448	TREX1	11277	HP:0001597	Abnormality of the nail
OMIM:610448	TREX1	11277	HP:0000006	Autosomal dominant inheritance
OMIM:610448	TREX1	11277	HP:0002829	Arthralgia
OMIM:610448	TREX1	11277	HP:0200042	Skin ulcer
OMIM:610448	TREX1	11277	HP:0003493	Antinuclear antibody positivity
OMIM:261750	PHKB	5257	HP:0001252	Muscular hypotonia
OMIM:261750	PHKB	5257	HP:0002240	Hepatomegaly
OMIM:261750	PHKB	5257	HP:0004322	Short stature
OMIM:261750	PHKB	5257	HP:0000007	Autosomal recessive inheritance
OMIM:261750	PHKB	5257	HP:0001324	Muscle weakness
OMIM:261750	PHKB	5257	HP:0002014	Diarrhea
OMIM:300718	FHL1	2273	HP:0000470	Short neck
OMIM:300718	FHL1	2273	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300718	FHL1	2273	HP:0003701	Proximal muscle weakness
OMIM:300718	FHL1	2273	HP:0002808	Kyphosis
OMIM:300718	FHL1	2273	HP:0003307	Hyperlordosis
OMIM:300718	FHL1	2273	HP:0001644	Dilated cardiomyopathy
OMIM:300718	FHL1	2273	HP:0003678	Rapidly progressive
OMIM:300718	FHL1	2273	HP:0001265	Hyporeflexia
OMIM:300718	FHL1	2273	HP:0001371	Flexion contracture
OMIM:300718	FHL1	2273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300718	FHL1	2273	HP:0002359	Frequent falls
OMIM:300718	FHL1	2273	HP:0003306	Spinal rigidity
OMIM:300718	FHL1	2273	HP:0002650	Scoliosis
OMIM:300718	FHL1	2273	HP:0001417	X-linked inheritance
OMIM:500003	NUP62	23636	HP:0001263	Global developmental delay
OMIM:500003	NUP62	23636	HP:0001252	Muscular hypotonia
OMIM:500003	NUP62	23636	HP:0002359	Frequent falls
OMIM:500003	NUP62	23636	HP:0001427	Mitochondrial inheritance
OMIM:500003	NUP62	23636	HP:0002355	Difficulty walking
OMIM:500003	NUP62	23636	HP:0003593	Infantile onset
OMIM:500003	NUP62	23636	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:500003	NUP62	23636	HP:0003487	Babinski sign
OMIM:500003	ADAR	103	HP:0001263	Global developmental delay
OMIM:500003	ADAR	103	HP:0001252	Muscular hypotonia
OMIM:500003	ADAR	103	HP:0002359	Frequent falls
OMIM:500003	ADAR	103	HP:0001427	Mitochondrial inheritance
OMIM:500003	ADAR	103	HP:0002355	Difficulty walking
OMIM:500003	ADAR	103	HP:0003593	Infantile onset
OMIM:500003	ADAR	103	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:500003	ADAR	103	HP:0003487	Babinski sign
OMIM:500003	ATP6	4508	HP:0001263	Global developmental delay
OMIM:500003	ATP6	4508	HP:0001252	Muscular hypotonia
OMIM:500003	ATP6	4508	HP:0002359	Frequent falls
OMIM:500003	ATP6	4508	HP:0001427	Mitochondrial inheritance
OMIM:500003	ATP6	4508	HP:0002355	Difficulty walking
OMIM:500003	ATP6	4508	HP:0003593	Infantile onset
OMIM:500003	ATP6	4508	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:500003	ATP6	4508	HP:0003487	Babinski sign
OMIM:608980	FREM1	158326	HP:0000414	Bulbous nose
OMIM:608980	FREM1	158326	HP:0000077	Abnormality of the kidney
OMIM:608980	FREM1	158326	HP:0000007	Autosomal recessive inheritance
OMIM:608980	FREM1	158326	HP:0000143	Rectovaginal fistula
OMIM:608980	FREM1	158326	HP:0000322	Short philtrum
OMIM:615877	MAB21L2	10586	HP:0000589	Coloboma
OMIM:615877	MAB21L2	10586	HP:0000047	Hypospadias
OMIM:615877	MAB21L2	10586	HP:0002342	Intellectual disability, moderate
OMIM:615877	MAB21L2	10586	HP:0000256	Macrocephaly
OMIM:615877	MAB21L2	10586	HP:0000826	Precocious puberty
OMIM:615877	MAB21L2	10586	HP:0001763	Pes planus
OMIM:615877	MAB21L2	10586	HP:0000482	Microcornea
OMIM:615877	MAB21L2	10586	HP:0000647	Sclerocornea
OMIM:615877	MAB21L2	10586	HP:0008905	Rhizomelia
OMIM:610019	CRYAA	1409	HP:0000518	Cataract
OMIM:610019	CRYAA	1409	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYAB	1410	HP:0000518	Cataract
OMIM:610019	CRYAB	1410	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYBA1	1411	HP:0000518	Cataract
OMIM:610019	CRYBA1	1411	HP:0000007	Autosomal recessive inheritance
OMIM:610019	HSF4	3299	HP:0000518	Cataract
OMIM:610019	HSF4	3299	HP:0000007	Autosomal recessive inheritance
OMIM:610019	BFSP2	8419	HP:0000518	Cataract
OMIM:610019	BFSP2	8419	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYBA2	1412	HP:0000518	Cataract
OMIM:610019	CRYBA2	1412	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYBA4	1413	HP:0000518	Cataract
OMIM:610019	CRYBA4	1413	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYBB1	1414	HP:0000518	Cataract
OMIM:610019	CRYBB1	1414	HP:0000007	Autosomal recessive inheritance
OMIM:610019	AGK	55750	HP:0000518	Cataract
OMIM:610019	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYBB2	1415	HP:0000518	Cataract
OMIM:610019	CRYBB2	1415	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYBB3	1417	HP:0000518	Cataract
OMIM:610019	CRYBB3	1417	HP:0000007	Autosomal recessive inheritance
OMIM:610019	WFS1	7466	HP:0000518	Cataract
OMIM:610019	WFS1	7466	HP:0000007	Autosomal recessive inheritance
OMIM:610019	NHS	4810	HP:0000518	Cataract
OMIM:610019	NHS	4810	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYGB	1419	HP:0000518	Cataract
OMIM:610019	CRYGB	1419	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYGC	1420	HP:0000518	Cataract
OMIM:610019	CRYGC	1420	HP:0000007	Autosomal recessive inheritance
OMIM:610019	GJA3	2700	HP:0000518	Cataract
OMIM:610019	GJA3	2700	HP:0000007	Autosomal recessive inheritance
OMIM:610019	UNC45B	146862	HP:0000518	Cataract
OMIM:610019	UNC45B	146862	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYGD	1421	HP:0000518	Cataract
OMIM:610019	CRYGD	1421	HP:0000007	Autosomal recessive inheritance
OMIM:610019	FYCO1	79443	HP:0000518	Cataract
OMIM:610019	FYCO1	79443	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYGS	1427	HP:0000518	Cataract
OMIM:610019	CRYGS	1427	HP:0000007	Autosomal recessive inheritance
OMIM:610019	BFSP1	631	HP:0000518	Cataract
OMIM:610019	BFSP1	631	HP:0000007	Autosomal recessive inheritance
OMIM:610019	GCNT2	2651	HP:0000518	Cataract
OMIM:610019	GCNT2	2651	HP:0000007	Autosomal recessive inheritance
OMIM:610019	MIP	4284	HP:0000518	Cataract
OMIM:610019	MIP	4284	HP:0000007	Autosomal recessive inheritance
OMIM:300749	CASK	8573	HP:0000252	Microcephaly
OMIM:300749	CASK	8573	HP:0000426	Prominent nasal bridge
OMIM:300749	CASK	8573	HP:0001290	Generalized hypotonia
OMIM:300749	CASK	8573	HP:0000337	Broad forehead
OMIM:300749	CASK	8573	HP:0000518	Cataract
OMIM:300749	CASK	8573	HP:0000966	Hypohidrosis
OMIM:300749	CASK	8573	HP:0000316	Hypertelorism
OMIM:300749	CASK	8573	HP:0000400	Macrotia
OMIM:300749	CASK	8573	HP:0000648	Optic atrophy
OMIM:300749	CASK	8573	HP:0001263	Global developmental delay
OMIM:300749	CASK	8573	HP:0001321	Cerebellar hypoplasia
OMIM:300749	CASK	8573	HP:0001276	Hypertonia
OMIM:300749	CASK	8573	HP:0000343	Long philtrum
OMIM:300749	CASK	8573	HP:0000567	Chorioretinal coloboma
OMIM:300749	CASK	8573	HP:0000300	Oval face
OMIM:300749	CASK	8573	HP:0000486	Strabismus
OMIM:300749	CASK	8573	HP:0001288	Gait disturbance
OMIM:300749	CASK	8573	HP:0000347	Micrognathia
OMIM:300749	CASK	8573	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:300749	CASK	8573	HP:0000407	Sensorineural hearing impairment
OMIM:300749	CASK	8573	HP:0000505	Visual impairment
OMIM:300749	CASK	8573	HP:0002198	Dilated fourth ventricle
OMIM:300749	CASK	8573	HP:0001347	Hyperreflexia
OMIM:300749	CASK	8573	HP:0000545	Myopia
OMIM:300749	CASK	8573	HP:0001257	Spasticity
OMIM:300749	CASK	8573	HP:0004325	Decreased body weight
OMIM:300749	CASK	8573	HP:0002650	Scoliosis
OMIM:300749	CASK	8573	HP:0003196	Short nose
OMIM:300749	CASK	8573	HP:0000455	Broad nasal tip
OMIM:300749	CASK	8573	HP:0002120	Cerebral cortical atrophy
OMIM:300749	CASK	8573	HP:0000543	Optic disc pallor
OMIM:300749	CASK	8573	HP:0008897	Postnatal growth retardation
OMIM:300749	CASK	8573	HP:0001250	Seizures
OMIM:300749	CASK	8573	HP:0000286	Epicanthus
OMIM:300749	CASK	8573	HP:0000639	Nystagmus
OMIM:300749	CASK	8573	HP:0000366	Abnormality of the nose
OMIM:300749	CASK	8573	HP:0000431	Wide nasal bridge
OMIM:300749	CASK	8573	HP:0008936	Muscular hypotonia of the trunk
OMIM:300749	CASK	8573	HP:0002342	Intellectual disability, moderate
OMIM:300749	CASK	8573	HP:0001324	Muscle weakness
OMIM:300749	CASK	8573	HP:0002167	Neurological speech impairment
OMIM:300749	CASK	8573	HP:0100543	Cognitive impairment
OMIM:300749	CASK	8573	HP:0001344	Absent speech
OMIM:300749	CASK	8573	HP:0000218	High palate
OMIM:300749	CASK	8573	HP:0001090	Large eyes
OMIM:300749	CASK	8573	HP:0004322	Short stature
OMIM:300749	CASK	8573	HP:0000609	Optic nerve hypoplasia
OMIM:300749	CASK	8573	HP:0001423	X-linked dominant inheritance
OMIM:225790	FLVCR2	55640	HP:0001561	Polyhydramnios
OMIM:225790	FLVCR2	55640	HP:0001305	Dandy-Walker malformation
OMIM:225790	FLVCR2	55640	HP:0002324	Hydranencephaly
OMIM:225790	FLVCR2	55640	HP:0000347	Micrognathia
OMIM:225790	FLVCR2	55640	HP:0001511	Intrauterine growth retardation
OMIM:225790	FLVCR2	55640	HP:0002365	Hypoplasia of the brainstem
OMIM:225790	FLVCR2	55640	HP:0000238	Hydrocephalus
OMIM:225790	FLVCR2	55640	HP:0001622	Premature birth
OMIM:225790	FLVCR2	55640	HP:0000007	Autosomal recessive inheritance
OMIM:225790	FLVCR2	55640	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225790	FLVCR2	55640	HP:0001274	Agenesis of corpus callosum
OMIM:225790	FLVCR2	55640	HP:0001321	Cerebellar hypoplasia
OMIM:225790	FLVCR2	55640	HP:0001371	Flexion contracture
OMIM:605724	BRCA2	675	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:605724	BRCA2	675	HP:0002023	Anal atresia
OMIM:605724	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:605724	BRCA2	675	HP:0001511	Intrauterine growth retardation
OMIM:605724	BRCA2	675	HP:0000957	Cafe-au-lait spot
OMIM:605724	BRCA2	675	HP:0009778	Short thumb
OMIM:605724	BRCA2	675	HP:0000252	Microcephaly
OMIM:605724	BRCA2	675	HP:0001508	Failure to thrive
OMIM:120790	C4A	720	HP:0000006	Autosomal dominant inheritance
OMIM:120790	C4A	720	HP:0002725	Systemic lupus erythematosus
OMIM:120790	C4B	721	HP:0000006	Autosomal dominant inheritance
OMIM:120790	C4B	721	HP:0002725	Systemic lupus erythematosus
OMIM:120790	SERPING1	710	HP:0000006	Autosomal dominant inheritance
OMIM:120790	SERPING1	710	HP:0002725	Systemic lupus erythematosus
OMIM:120790	C1QA	712	HP:0000006	Autosomal dominant inheritance
OMIM:120790	C1QA	712	HP:0002725	Systemic lupus erythematosus
OMIM:120790	C1QB	713	HP:0000006	Autosomal dominant inheritance
OMIM:120790	C1QB	713	HP:0002725	Systemic lupus erythematosus
OMIM:120790	C1QC	714	HP:0000006	Autosomal dominant inheritance
OMIM:120790	C1QC	714	HP:0002725	Systemic lupus erythematosus
OMIM:120790	C1R	715	HP:0000006	Autosomal dominant inheritance
OMIM:120790	C1R	715	HP:0002725	Systemic lupus erythematosus
OMIM:120790	C1S	716	HP:0000006	Autosomal dominant inheritance
OMIM:120790	C1S	716	HP:0002725	Systemic lupus erythematosus
OMIM:120790	C2	717	HP:0000006	Autosomal dominant inheritance
OMIM:120790	C2	717	HP:0002725	Systemic lupus erythematosus
OMIM:157600	RAD51	5888	HP:0003829	Incomplete penetrance
OMIM:157600	RAD51	5888	HP:0000006	Autosomal dominant inheritance
OMIM:157600	DCC	1630	HP:0003829	Incomplete penetrance
OMIM:157600	DCC	1630	HP:0000006	Autosomal dominant inheritance
OMIM:189990	MYB	4602	HP:0000006	Autosomal dominant inheritance
OMIM:189990	MYB	4602	HP:0006721	Acute lymphoblastic leukemia
OMIM:189990	MYB	4602	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:2697	VPS33B	26276	HP:0000821	Hypothyroidism
ORPHANET:2697	VPS33B	26276	HP:0000787	Nephrolithiasis
ORPHANET:2697	VPS33B	26276	HP:0003355	Aminoaciduria
ORPHANET:2697	VPS33B	26276	HP:0002024	Malabsorption
ORPHANET:2697	VPS33B	26276	HP:0002240	Hepatomegaly
ORPHANET:2697	VPS33B	26276	HP:0001252	Muscular hypotonia
ORPHANET:2697	VPS33B	26276	HP:0001872	Abnormality of thrombocytes
ORPHANET:2697	VPS33B	26276	HP:0000582	Upslanted palpebral fissure
ORPHANET:2697	VPS33B	26276	HP:0001928	Abnormality of coagulation
ORPHANET:2697	VPS33B	26276	HP:0000973	Cutis laxa
ORPHANET:2697	VPS33B	26276	HP:0000091	Abnormality of the renal tubule
ORPHANET:2697	VPS33B	26276	HP:0002808	Kyphosis
ORPHANET:2697	VPS33B	26276	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2697	VPS33B	26276	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:2697	VPS33B	26276	HP:0001671	Abnormality of the cardiac septa
ORPHANET:2697	VPS33B	26276	HP:0000444	Convex nasal ridge
ORPHANET:2697	VPS33B	26276	HP:0100543	Cognitive impairment
ORPHANET:2697	VPS33B	26276	HP:0001394	Cirrhosis
ORPHANET:2697	VPS33B	26276	HP:0003202	Skeletal muscle atrophy
ORPHANET:2697	VPS33B	26276	HP:0001838	Rocker bottom foot
ORPHANET:2697	VPS33B	26276	HP:0001903	Anemia
ORPHANET:2697	VPS33B	26276	HP:0002757	Recurrent fractures
ORPHANET:2697	VPS33B	26276	HP:0000768	Pectus carinatum
ORPHANET:2697	VPS33B	26276	HP:0004370	Abnormality of temperature regulation
ORPHANET:2697	VPS33B	26276	HP:0000174	Abnormality of the palate
ORPHANET:2697	VPS33B	26276	HP:0001376	Limitation of joint mobility
ORPHANET:2697	VPS33B	26276	HP:0005280	Depressed nasal bridge
ORPHANET:2697	VPS33B	26276	HP:0012211	Abnormal renal physiology
ORPHANET:2697	VPS33B	26276	HP:0001883	Talipes
ORPHANET:2697	VPS33B	26276	HP:0008064	Ichthyosis
ORPHANET:2697	VPS33B	26276	HP:0003272	Abnormality of the hip bone
ORPHANET:2697	VPS33B	26276	HP:0001562	Oligohydramnios
ORPHANET:2697	VPS33B	26276	HP:0000407	Sensorineural hearing impairment
ORPHANET:2697	VPS33B	26276	HP:0000873	Diabetes insipidus
ORPHANET:2697	VPS33B	26276	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2697	VIPAS39	63894	HP:0000821	Hypothyroidism
ORPHANET:2697	VIPAS39	63894	HP:0000787	Nephrolithiasis
ORPHANET:2697	VIPAS39	63894	HP:0003355	Aminoaciduria
ORPHANET:2697	VIPAS39	63894	HP:0002024	Malabsorption
ORPHANET:2697	VIPAS39	63894	HP:0002240	Hepatomegaly
ORPHANET:2697	VIPAS39	63894	HP:0001252	Muscular hypotonia
ORPHANET:2697	VIPAS39	63894	HP:0001872	Abnormality of thrombocytes
ORPHANET:2697	VIPAS39	63894	HP:0000582	Upslanted palpebral fissure
ORPHANET:2697	VIPAS39	63894	HP:0001928	Abnormality of coagulation
ORPHANET:2697	VIPAS39	63894	HP:0000973	Cutis laxa
ORPHANET:2697	VIPAS39	63894	HP:0000091	Abnormality of the renal tubule
ORPHANET:2697	VIPAS39	63894	HP:0002808	Kyphosis
ORPHANET:2697	VIPAS39	63894	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2697	VIPAS39	63894	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:2697	VIPAS39	63894	HP:0001671	Abnormality of the cardiac septa
ORPHANET:2697	VIPAS39	63894	HP:0000444	Convex nasal ridge
ORPHANET:2697	VIPAS39	63894	HP:0100543	Cognitive impairment
ORPHANET:2697	VIPAS39	63894	HP:0001394	Cirrhosis
ORPHANET:2697	VIPAS39	63894	HP:0003202	Skeletal muscle atrophy
ORPHANET:2697	VIPAS39	63894	HP:0001838	Rocker bottom foot
ORPHANET:2697	VIPAS39	63894	HP:0001903	Anemia
ORPHANET:2697	VIPAS39	63894	HP:0002757	Recurrent fractures
ORPHANET:2697	VIPAS39	63894	HP:0000768	Pectus carinatum
ORPHANET:2697	VIPAS39	63894	HP:0004370	Abnormality of temperature regulation
ORPHANET:2697	VIPAS39	63894	HP:0000174	Abnormality of the palate
ORPHANET:2697	VIPAS39	63894	HP:0001376	Limitation of joint mobility
ORPHANET:2697	VIPAS39	63894	HP:0005280	Depressed nasal bridge
ORPHANET:2697	VIPAS39	63894	HP:0012211	Abnormal renal physiology
ORPHANET:2697	VIPAS39	63894	HP:0001883	Talipes
ORPHANET:2697	VIPAS39	63894	HP:0008064	Ichthyosis
ORPHANET:2697	VIPAS39	63894	HP:0003272	Abnormality of the hip bone
ORPHANET:2697	VIPAS39	63894	HP:0001562	Oligohydramnios
ORPHANET:2697	VIPAS39	63894	HP:0000407	Sensorineural hearing impairment
ORPHANET:2697	VIPAS39	63894	HP:0000873	Diabetes insipidus
ORPHANET:2697	VIPAS39	63894	HP:0000368	Low-set, posteriorly rotated ears
OMIM:616004	FGA	2243	HP:0001928	Abnormality of coagulation
OMIM:616004	FGA	2243	HP:0002239	Gastrointestinal hemorrhage
OMIM:616004	FGA	2243	HP:0004418	Thrombophlebitis
OMIM:616004	FGA	2243	HP:0000225	Gingival bleeding
OMIM:616004	FGA	2243	HP:0000421	Epistaxis
OMIM:616004	FGB	2244	HP:0001928	Abnormality of coagulation
OMIM:616004	FGB	2244	HP:0002239	Gastrointestinal hemorrhage
OMIM:616004	FGB	2244	HP:0004418	Thrombophlebitis
OMIM:616004	FGB	2244	HP:0000225	Gingival bleeding
OMIM:616004	FGB	2244	HP:0000421	Epistaxis
OMIM:616004	FGG	2266	HP:0001928	Abnormality of coagulation
OMIM:616004	FGG	2266	HP:0002239	Gastrointestinal hemorrhage
OMIM:616004	FGG	2266	HP:0004418	Thrombophlebitis
OMIM:616004	FGG	2266	HP:0000225	Gingival bleeding
OMIM:616004	FGG	2266	HP:0000421	Epistaxis
OMIM:253601	DYSF	8291	HP:0003560	Muscular dystrophy
OMIM:253601	DYSF	8291	HP:0003458	EMG: myopathic abnormalities
OMIM:253601	DYSF	8291	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253601	DYSF	8291	HP:0003677	Slow progression
OMIM:253601	DYSF	8291	HP:0009025	Increased connective tissue
OMIM:253601	DYSF	8291	HP:0000007	Autosomal recessive inheritance
OMIM:253601	DYSF	8291	HP:0003701	Proximal muscle weakness
OMIM:215600	KRT8	3856	HP:0003270	Abdominal distention
OMIM:215600	KRT8	3856	HP:0001945	Fever
OMIM:215600	KRT8	3856	HP:0001254	Lethargy
OMIM:215600	KRT8	3856	HP:0000952	Jaundice
OMIM:215600	KRT18	3875	HP:0003270	Abdominal distention
OMIM:215600	KRT18	3875	HP:0001945	Fever
OMIM:215600	KRT18	3875	HP:0001254	Lethargy
OMIM:215600	KRT18	3875	HP:0000952	Jaundice
OMIM:259440	PPIB	5479	HP:0000592	Blue sclerae
OMIM:259440	PPIB	5479	HP:0000767	Pectus excavatum
OMIM:259440	PPIB	5479	HP:0002808	Kyphosis
OMIM:259440	PPIB	5479	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	PPIB	5479	HP:0000768	Pectus carinatum
OMIM:259440	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:259440	PPIB	5479	HP:0002757	Recurrent fractures
OMIM:259440	PPIB	5479	HP:0002645	Wormian bones
OMIM:259440	PPIB	5479	HP:0002650	Scoliosis
OMIM:259440	SERPINH1	871	HP:0000592	Blue sclerae
OMIM:259440	SERPINH1	871	HP:0000767	Pectus excavatum
OMIM:259440	SERPINH1	871	HP:0002808	Kyphosis
OMIM:259440	SERPINH1	871	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	SERPINH1	871	HP:0000768	Pectus carinatum
OMIM:259440	SERPINH1	871	HP:0000007	Autosomal recessive inheritance
OMIM:259440	SERPINH1	871	HP:0002757	Recurrent fractures
OMIM:259440	SERPINH1	871	HP:0002645	Wormian bones
OMIM:259440	SERPINH1	871	HP:0002650	Scoliosis
OMIM:259440	FKBP10	60681	HP:0000592	Blue sclerae
OMIM:259440	FKBP10	60681	HP:0000767	Pectus excavatum
OMIM:259440	FKBP10	60681	HP:0002808	Kyphosis
OMIM:259440	FKBP10	60681	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	FKBP10	60681	HP:0000768	Pectus carinatum
OMIM:259440	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:259440	FKBP10	60681	HP:0002757	Recurrent fractures
OMIM:259440	FKBP10	60681	HP:0002645	Wormian bones
OMIM:259440	FKBP10	60681	HP:0002650	Scoliosis
OMIM:259440	BMP1	649	HP:0000592	Blue sclerae
OMIM:259440	BMP1	649	HP:0000767	Pectus excavatum
OMIM:259440	BMP1	649	HP:0002808	Kyphosis
OMIM:259440	BMP1	649	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	BMP1	649	HP:0000768	Pectus carinatum
OMIM:259440	BMP1	649	HP:0000007	Autosomal recessive inheritance
OMIM:259440	BMP1	649	HP:0002757	Recurrent fractures
OMIM:259440	BMP1	649	HP:0002645	Wormian bones
OMIM:259440	BMP1	649	HP:0002650	Scoliosis
OMIM:259440	P3H1	64175	HP:0000592	Blue sclerae
OMIM:259440	P3H1	64175	HP:0000767	Pectus excavatum
OMIM:259440	P3H1	64175	HP:0002808	Kyphosis
OMIM:259440	P3H1	64175	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	P3H1	64175	HP:0000768	Pectus carinatum
OMIM:259440	P3H1	64175	HP:0000007	Autosomal recessive inheritance
OMIM:259440	P3H1	64175	HP:0002757	Recurrent fractures
OMIM:259440	P3H1	64175	HP:0002645	Wormian bones
OMIM:259440	P3H1	64175	HP:0002650	Scoliosis
OMIM:259440	TMEM38B	55151	HP:0000592	Blue sclerae
OMIM:259440	TMEM38B	55151	HP:0000767	Pectus excavatum
OMIM:259440	TMEM38B	55151	HP:0002808	Kyphosis
OMIM:259440	TMEM38B	55151	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	TMEM38B	55151	HP:0000768	Pectus carinatum
OMIM:259440	TMEM38B	55151	HP:0000007	Autosomal recessive inheritance
OMIM:259440	TMEM38B	55151	HP:0002757	Recurrent fractures
OMIM:259440	TMEM38B	55151	HP:0002645	Wormian bones
OMIM:259440	TMEM38B	55151	HP:0002650	Scoliosis
OMIM:259440	WNT1	7471	HP:0000592	Blue sclerae
OMIM:259440	WNT1	7471	HP:0000767	Pectus excavatum
OMIM:259440	WNT1	7471	HP:0002808	Kyphosis
OMIM:259440	WNT1	7471	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	WNT1	7471	HP:0000768	Pectus carinatum
OMIM:259440	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:259440	WNT1	7471	HP:0002757	Recurrent fractures
OMIM:259440	WNT1	7471	HP:0002645	Wormian bones
OMIM:259440	WNT1	7471	HP:0002650	Scoliosis
OMIM:259440	CREB3L1	90993	HP:0000592	Blue sclerae
OMIM:259440	CREB3L1	90993	HP:0000767	Pectus excavatum
OMIM:259440	CREB3L1	90993	HP:0002808	Kyphosis
OMIM:259440	CREB3L1	90993	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	CREB3L1	90993	HP:0000768	Pectus carinatum
OMIM:259440	CREB3L1	90993	HP:0000007	Autosomal recessive inheritance
OMIM:259440	CREB3L1	90993	HP:0002757	Recurrent fractures
OMIM:259440	CREB3L1	90993	HP:0002645	Wormian bones
OMIM:259440	CREB3L1	90993	HP:0002650	Scoliosis
OMIM:259440	SPARC	6678	HP:0000592	Blue sclerae
OMIM:259440	SPARC	6678	HP:0000767	Pectus excavatum
OMIM:259440	SPARC	6678	HP:0002808	Kyphosis
OMIM:259440	SPARC	6678	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	SPARC	6678	HP:0000768	Pectus carinatum
OMIM:259440	SPARC	6678	HP:0000007	Autosomal recessive inheritance
OMIM:259440	SPARC	6678	HP:0002757	Recurrent fractures
OMIM:259440	SPARC	6678	HP:0002645	Wormian bones
OMIM:259440	SPARC	6678	HP:0002650	Scoliosis
OMIM:259440	SERPINF1	5176	HP:0000592	Blue sclerae
OMIM:259440	SERPINF1	5176	HP:0000767	Pectus excavatum
OMIM:259440	SERPINF1	5176	HP:0002808	Kyphosis
OMIM:259440	SERPINF1	5176	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	SERPINF1	5176	HP:0000768	Pectus carinatum
OMIM:259440	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:259440	SERPINF1	5176	HP:0002757	Recurrent fractures
OMIM:259440	SERPINF1	5176	HP:0002645	Wormian bones
OMIM:259440	SERPINF1	5176	HP:0002650	Scoliosis
OMIM:259440	CRTAP	10491	HP:0000592	Blue sclerae
OMIM:259440	CRTAP	10491	HP:0000767	Pectus excavatum
OMIM:259440	CRTAP	10491	HP:0002808	Kyphosis
OMIM:259440	CRTAP	10491	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	CRTAP	10491	HP:0000768	Pectus carinatum
OMIM:259440	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:259440	CRTAP	10491	HP:0002757	Recurrent fractures
OMIM:259440	CRTAP	10491	HP:0002645	Wormian bones
OMIM:259440	CRTAP	10491	HP:0002650	Scoliosis
OMIM:259440	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:259440	COL1A1	1277	HP:0000767	Pectus excavatum
OMIM:259440	COL1A1	1277	HP:0002808	Kyphosis
OMIM:259440	COL1A1	1277	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	COL1A1	1277	HP:0000768	Pectus carinatum
OMIM:259440	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:259440	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:259440	COL1A1	1277	HP:0002645	Wormian bones
OMIM:259440	COL1A1	1277	HP:0002650	Scoliosis
OMIM:259440	SP7	121340	HP:0000592	Blue sclerae
OMIM:259440	SP7	121340	HP:0000767	Pectus excavatum
OMIM:259440	SP7	121340	HP:0002808	Kyphosis
OMIM:259440	SP7	121340	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	SP7	121340	HP:0000768	Pectus carinatum
OMIM:259440	SP7	121340	HP:0000007	Autosomal recessive inheritance
OMIM:259440	SP7	121340	HP:0002757	Recurrent fractures
OMIM:259440	SP7	121340	HP:0002645	Wormian bones
OMIM:259440	SP7	121340	HP:0002650	Scoliosis
OMIM:259440	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:259440	COL1A2	1278	HP:0000767	Pectus excavatum
OMIM:259440	COL1A2	1278	HP:0002808	Kyphosis
OMIM:259440	COL1A2	1278	HP:0008873	Disproportionate short-limb short stature
OMIM:259440	COL1A2	1278	HP:0000768	Pectus carinatum
OMIM:259440	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:259440	COL1A2	1278	HP:0002757	Recurrent fractures
OMIM:259440	COL1A2	1278	HP:0002645	Wormian bones
OMIM:259440	COL1A2	1278	HP:0002650	Scoliosis
OMIM:600802	JAK3	3718	HP:0002733	Abnormality of the lymph nodes
OMIM:600802	JAK3	3718	HP:0002965	Cutaneous anergy
OMIM:600802	JAK3	3718	HP:0002788	Recurrent upper respiratory tract infections
OMIM:600802	JAK3	3718	HP:0004430	Severe combined immunodeficiency
OMIM:600802	JAK3	3718	HP:0003139	Panhypogammaglobulinemia
OMIM:600802	JAK3	3718	HP:0001508	Failure to thrive
OMIM:600802	JAK3	3718	HP:0002014	Diarrhea
OMIM:600802	JAK3	3718	HP:0002090	Pneumonia
OMIM:600802	JAK3	3718	HP:0005214	Intestinal obstruction
OMIM:600802	JAK3	3718	HP:0001287	Meningitis
OMIM:600802	JAK3	3718	HP:0000007	Autosomal recessive inheritance
OMIM:604292	TP63	8626	HP:0000126	Hydronephrosis
OMIM:604292	TP63	8626	HP:0001592	Selective tooth agenesis
OMIM:604292	TP63	8626	HP:0001739	Abnormality of the nasopharynx
OMIM:604292	TP63	8626	HP:0002557	Hypoplastic nipples
OMIM:604292	TP63	8626	HP:0000635	Blue irides
OMIM:604292	TP63	8626	HP:0008551	Microtia
OMIM:604292	TP63	8626	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:604292	TP63	8626	HP:0000327	Hypoplasia of the maxilla
OMIM:604292	TP63	8626	HP:0000691	Microdontia
OMIM:604292	TP63	8626	HP:0000272	Malar flattening
OMIM:604292	TP63	8626	HP:0000670	Carious teeth
OMIM:604292	TP63	8626	HP:0000453	Choanal atresia
OMIM:604292	TP63	8626	HP:0001171	Split hand
OMIM:604292	TP63	8626	HP:0000653	Sparse eyelashes
OMIM:604292	TP63	8626	HP:0000535	Sparse eyebrow
OMIM:604292	TP63	8626	HP:0000110	Renal dysplasia
OMIM:604292	TP63	8626	HP:0000498	Blepharitis
OMIM:604292	TP63	8626	HP:0001249	Intellectual disability
OMIM:604292	TP63	8626	HP:0000581	Blepharophimosis
OMIM:604292	TP63	8626	HP:0000962	Hyperkeratosis
OMIM:604292	TP63	8626	HP:0000824	Growth hormone deficiency
OMIM:604292	TP63	8626	HP:0002209	Sparse scalp hair
OMIM:604292	TP63	8626	HP:0007513	Generalized hypopigmentation
OMIM:604292	TP63	8626	HP:0002215	Sparse axillary hair
OMIM:604292	TP63	8626	HP:0000175	Cleft palate
OMIM:604292	TP63	8626	HP:0000028	Cryptorchidism
OMIM:604292	TP63	8626	HP:0000613	Photophobia
OMIM:604292	TP63	8626	HP:0000076	Vesicoureteral reflux
OMIM:604292	TP63	8626	HP:0000365	Hearing impairment
OMIM:604292	TP63	8626	HP:0008404	Nail dystrophy
OMIM:604292	TP63	8626	HP:0000968	Ectodermal dysplasia
OMIM:604292	TP63	8626	HP:0000217	Xerostomia
OMIM:604292	TP63	8626	HP:0000104	Renal agenesis
OMIM:604292	TP63	8626	HP:0000204	Cleft upper lip
OMIM:604292	TP63	8626	HP:0000072	Hydroureter
OMIM:604292	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:604292	TP63	8626	HP:0001770	Toe syndactyly
OMIM:604292	TP63	8626	HP:0000081	Duplicated collecting system
OMIM:604292	TP63	8626	HP:0000054	Micropenis
OMIM:604292	TP63	8626	HP:0000015	Bladder diverticulum
OMIM:250220	GPX4	2879	HP:0005616	Accelerated skeletal maturation
OMIM:250220	GPX4	2879	HP:0003025	Metaphyseal irregularity
OMIM:250220	GPX4	2879	HP:0002132	Porencephaly
OMIM:250220	GPX4	2879	HP:0000887	Cupped ribs
OMIM:250220	GPX4	2879	HP:0002750	Delayed skeletal maturation
OMIM:250220	GPX4	2879	HP:0009803	Short phalanx of finger
OMIM:250220	GPX4	2879	HP:0000912	Sprengel anomaly
OMIM:250220	GPX4	2879	HP:0010049	Short metacarpal
OMIM:250220	GPX4	2879	HP:0005280	Depressed nasal bridge
OMIM:250220	GPX4	2879	HP:0000773	Short ribs
OMIM:250220	GPX4	2879	HP:0002663	Delayed epiphyseal ossification
OMIM:250220	GPX4	2879	HP:0000878	11 pairs of ribs
OMIM:250220	GPX4	2879	HP:0003021	Metaphyseal cupping
OMIM:250220	GPX4	2879	HP:0000358	Posteriorly rotated ears
OMIM:250220	GPX4	2879	HP:0002657	Spondylometaphyseal dysplasia
OMIM:250220	GPX4	2879	HP:0008905	Rhizomelia
OMIM:250220	GPX4	2879	HP:0001252	Muscular hypotonia
OMIM:250220	GPX4	2879	HP:0003375	Narrow greater sacrosciatic notches
OMIM:250220	GPX4	2879	HP:0000926	Platyspondyly
OMIM:250220	GPX4	2879	HP:0001156	Brachydactyly syndrome
OMIM:250220	GPX4	2879	HP:0003026	Short long bone
OMIM:250220	GPX4	2879	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:250220	GPX4	2879	HP:0000774	Narrow chest
OMIM:250220	GPX4	2879	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:250220	GPX4	2879	HP:0000470	Short neck
OMIM:250220	GPX4	2879	HP:0001831	Short toe
OMIM:250220	GPX4	2879	HP:0001631	Atria septal defect
OMIM:250220	GPX4	2879	HP:0000262	Turricephaly
OMIM:250220	GPX4	2879	HP:0001582	Redundant skin
OMIM:250220	GPX4	2879	HP:0001645	Sudden cardiac death
OMIM:250220	GPX4	2879	HP:0009381	Short finger
OMIM:250220	GPX4	2879	HP:0000007	Autosomal recessive inheritance
OMIM:250220	GPX4	2879	HP:0001762	Talipes equinovarus
OMIM:250220	GPX4	2879	HP:0002869	Flared iliac wings
OMIM:610425	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:610425	CRYBA1	1411	HP:0000006	Autosomal dominant inheritance
OMIM:610425	HSF4	3299	HP:0000006	Autosomal dominant inheritance
OMIM:610425	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:610425	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:610425	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:610425	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:610425	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:610425	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:616127	CWF19L1	55280	HP:0001260	Dysarthria
OMIM:616127	CWF19L1	55280	HP:0001252	Muscular hypotonia
OMIM:616127	CWF19L1	55280	HP:0001310	Dysmetria
OMIM:616127	CWF19L1	55280	HP:0001263	Global developmental delay
OMIM:616127	CWF19L1	55280	HP:0002078	Truncal ataxia
OMIM:616127	CWF19L1	55280	HP:0002317	Unsteady gait
OMIM:616127	CWF19L1	55280	HP:0001249	Intellectual disability
OMIM:271550	ACP5	54	HP:0004322	Short stature
OMIM:271550	ACP5	54	HP:0000684	Delayed eruption of teeth
OMIM:271550	ACP5	54	HP:0000926	Platyspondyly
OMIM:271550	ACP5	54	HP:0002751	Kyphoscoliosis
OMIM:271550	ACP5	54	HP:0002983	Micromelia
OMIM:271550	ACP5	54	HP:0002657	Spondylometaphyseal dysplasia
OMIM:271550	ACP5	54	HP:0005930	Abnormality of epiphysis morphology
OMIM:271550	ACP5	54	HP:0002938	Lumbar hyperlordosis
OMIM:271550	ACP5	54	HP:0002514	Cerebral calcification
OMIM:271550	ACP5	54	HP:0001249	Intellectual disability
OMIM:271550	ACP5	54	HP:0000007	Autosomal recessive inheritance
OMIM:271550	ACP5	54	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:83469	WT1	7490	HP:0001903	Anemia
ORPHANET:83469	WT1	7490	HP:0004375	Neoplasm of the nervous system
ORPHANET:83469	WT1	7490	HP:0005214	Intestinal obstruction
ORPHANET:83469	WT1	7490	HP:0001541	Ascites
ORPHANET:83469	WT1	7490	HP:0002240	Hepatomegaly
ORPHANET:83469	WT1	7490	HP:0002017	Nausea and vomiting
ORPHANET:83469	WT1	7490	HP:0002894	Neoplasm of the pancreas
ORPHANET:83469	WT1	7490	HP:0002027	Abdominal pain
ORPHANET:83469	WT1	7490	HP:0007378	Neoplasm of the gastrointestinal tract
ORPHANET:83469	WT1	7490	HP:0100615	Ovarian neoplasm
ORPHANET:83469	WT1	7490	HP:0001824	Weight loss
ORPHANET:83469	WT1	7490	HP:0100526	Neoplasm of the lung
ORPHANET:83469	WT1	7490	HP:0100721	Mediastinal lymphadenopathy
ORPHANET:83469	WT1	7490	HP:0000035	Abnormality of the testis
ORPHANET:83469	WT1	7490	HP:0100242	Sarcoma
ORPHANET:83469	EWSR1	2130	HP:0001903	Anemia
ORPHANET:83469	EWSR1	2130	HP:0004375	Neoplasm of the nervous system
ORPHANET:83469	EWSR1	2130	HP:0005214	Intestinal obstruction
ORPHANET:83469	EWSR1	2130	HP:0001541	Ascites
ORPHANET:83469	EWSR1	2130	HP:0002240	Hepatomegaly
ORPHANET:83469	EWSR1	2130	HP:0002017	Nausea and vomiting
ORPHANET:83469	EWSR1	2130	HP:0002894	Neoplasm of the pancreas
ORPHANET:83469	EWSR1	2130	HP:0002027	Abdominal pain
ORPHANET:83469	EWSR1	2130	HP:0007378	Neoplasm of the gastrointestinal tract
ORPHANET:83469	EWSR1	2130	HP:0100615	Ovarian neoplasm
ORPHANET:83469	EWSR1	2130	HP:0001824	Weight loss
ORPHANET:83469	EWSR1	2130	HP:0100526	Neoplasm of the lung
ORPHANET:83469	EWSR1	2130	HP:0100721	Mediastinal lymphadenopathy
ORPHANET:83469	EWSR1	2130	HP:0000035	Abnormality of the testis
ORPHANET:83469	EWSR1	2130	HP:0100242	Sarcoma
ORPHANET:3366	FGFR1	2260	HP:0000243	Trigonocephaly
ORPHANET:3366	FGFR1	2260	HP:0000601	Hypotelorism
ORPHANET:3366	FGFR1	2260	HP:0000664	Synophrys
ORPHANET:3366	FGFR1	2260	HP:0000336	Prominent supraorbital ridges
ORPHANET:3366	FGFR1	2260	HP:0001539	Omphalocele
ORPHANET:3366	FGFR1	2260	HP:0000431	Wide nasal bridge
ORPHANET:3366	FREM1	158326	HP:0000243	Trigonocephaly
ORPHANET:3366	FREM1	158326	HP:0000601	Hypotelorism
ORPHANET:3366	FREM1	158326	HP:0000664	Synophrys
ORPHANET:3366	FREM1	158326	HP:0000336	Prominent supraorbital ridges
ORPHANET:3366	FREM1	158326	HP:0001539	Omphalocele
ORPHANET:3366	FREM1	158326	HP:0000431	Wide nasal bridge
ORPHANET:93260	FGFR2	2263	HP:0010109	Short hallux
ORPHANET:93260	FGFR2	2263	HP:0002648	Abnormality of calvarial morphology
ORPHANET:93260	FGFR2	2263	HP:0002093	Respiratory insufficiency
ORPHANET:93260	FGFR2	2263	HP:0002566	Intestinal malrotation
ORPHANET:93260	FGFR2	2263	HP:0005280	Depressed nasal bridge
ORPHANET:93260	FGFR2	2263	HP:0002779	Tracheomalacia
ORPHANET:93260	FGFR2	2263	HP:0003196	Short nose
ORPHANET:93260	FGFR2	2263	HP:0009602	Abnormality of thumb phalanx
ORPHANET:93260	FGFR2	2263	HP:0100542	Abnormal localization of kidney
ORPHANET:93260	FGFR2	2263	HP:0000175	Cleft palate
ORPHANET:93260	FGFR2	2263	HP:0000348	High forehead
ORPHANET:93260	FGFR2	2263	HP:0000453	Choanal atresia
ORPHANET:93260	FGFR2	2263	HP:0000272	Malar flattening
ORPHANET:93260	FGFR2	2263	HP:0001376	Limitation of joint mobility
ORPHANET:93260	FGFR2	2263	HP:0000505	Visual impairment
ORPHANET:93260	FGFR2	2263	HP:0001156	Brachydactyly syndrome
ORPHANET:93260	FGFR2	2263	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:93260	FGFR2	2263	HP:0006101	Finger syndactyly
ORPHANET:93260	FGFR2	2263	HP:0000316	Hypertelorism
ORPHANET:93260	FGFR2	2263	HP:0001250	Seizures
ORPHANET:93260	FGFR2	2263	HP:0002308	Arnold-Chiari malformation
ORPHANET:93260	FGFR2	2263	HP:0100543	Cognitive impairment
ORPHANET:93260	FGFR2	2263	HP:0000413	Atresia of the external auditory canal
ORPHANET:93260	FGFR2	2263	HP:0001841	Preaxial foot polydactyly
ORPHANET:93260	FGFR2	2263	HP:0000076	Vesicoureteral reflux
ORPHANET:93260	FGFR2	2263	HP:0000365	Hearing impairment
ORPHANET:93260	FGFR2	2263	HP:0001770	Toe syndactyly
ORPHANET:93260	FGFR2	2263	HP:0100589	Urogenital fistula
ORPHANET:93260	FGFR2	2263	HP:0000520	Proptosis
ORPHANET:93260	FGFR2	2263	HP:0001601	Laryngomalacia
ORPHANET:93260	FGFR2	2263	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:604278	SLC4A4	8671	HP:0000518	Cataract
OMIM:604278	SLC4A4	8671	HP:0001249	Intellectual disability
OMIM:604278	SLC4A4	8671	HP:0000007	Autosomal recessive inheritance
OMIM:604278	SLC4A4	8671	HP:0000501	Glaucoma
OMIM:604278	SLC4A4	8671	HP:0001510	Growth delay
OMIM:184255	COL2A1	1280	HP:0002857	Genu valgum
OMIM:184255	COL2A1	1280	HP:0002812	Coxa vara
OMIM:184255	COL2A1	1280	HP:0004322	Short stature
OMIM:184255	COL2A1	1280	HP:0003311	Hypoplasia of the odontoid process
OMIM:184255	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:184255	COL2A1	1280	HP:0001163	Abnormality of the metacarpal bones
OMIM:184255	COL2A1	1280	HP:0100864	Short femoral neck
OMIM:184255	COL2A1	1280	HP:0001763	Pes planus
OMIM:184255	COL2A1	1280	HP:0003019	Abnormality of the wrist
OMIM:184255	COL2A1	1280	HP:0002983	Micromelia
OMIM:184255	COL2A1	1280	HP:0003272	Abnormality of the hip bone
OMIM:184255	COL2A1	1280	HP:0002757	Recurrent fractures
OMIM:184255	COL2A1	1280	HP:0003307	Hyperlordosis
OMIM:184255	COL2A1	1280	HP:0009882	Short distal phalanx of finger
OMIM:184255	COL2A1	1280	HP:0003025	Metaphyseal irregularity
OMIM:184255	COL2A1	1280	HP:0002657	Spondylometaphyseal dysplasia
OMIM:184255	COL2A1	1280	HP:0002650	Scoliosis
OMIM:184255	COL2A1	1280	HP:0002808	Kyphosis
OMIM:184255	COL2A1	1280	HP:0001636	Tetralogy of Fallot
OMIM:184255	COL2A1	1280	HP:0002515	Waddling gait
OMIM:162300	RET	5979	HP:0002014	Diarrhea
OMIM:162300	RET	5979	HP:0000767	Pectus excavatum
OMIM:162300	RET	5979	HP:0003005	Ganglioneuroma
OMIM:162300	RET	5979	HP:0001388	Joint laxity
OMIM:162300	RET	5979	HP:0003198	Myopathy
OMIM:162300	RET	5979	HP:0001252	Muscular hypotonia
OMIM:162300	RET	5979	HP:0002650	Scoliosis
OMIM:162300	RET	5979	HP:0000951	Abnormality of the skin
OMIM:162300	RET	5979	HP:0002253	Colonic diverticula
OMIM:162300	RET	5979	HP:0002019	Constipation
OMIM:162300	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:162300	RET	5979	HP:0000179	Thick lower lip vermilion
OMIM:162300	RET	5979	HP:0001761	Pes cavus
OMIM:162300	RET	5979	HP:0000218	High palate
OMIM:162300	RET	5979	HP:0000574	Thick eyebrow
OMIM:162300	RET	5979	HP:0002251	Aganglionic megacolon
OMIM:162300	RET	5979	HP:0001263	Global developmental delay
OMIM:162300	RET	5979	HP:0001531	Failure to thrive in infancy
OMIM:162300	RET	5979	HP:0003307	Hyperlordosis
OMIM:162300	RET	5979	HP:0002808	Kyphosis
OMIM:194300	LPAR6	10161	HP:0002224	Woolly hair
OMIM:194300	LPAR6	10161	HP:0002208	Coarse hair
OMIM:194300	LPAR6	10161	HP:0000006	Autosomal dominant inheritance
OMIM:194300	KRT71	112802	HP:0002224	Woolly hair
OMIM:194300	KRT71	112802	HP:0002208	Coarse hair
OMIM:194300	KRT71	112802	HP:0000006	Autosomal dominant inheritance
OMIM:194300	LIPH	200879	HP:0002224	Woolly hair
OMIM:194300	LIPH	200879	HP:0002208	Coarse hair
OMIM:194300	LIPH	200879	HP:0000006	Autosomal dominant inheritance
OMIM:194300	KRT74	121391	HP:0002224	Woolly hair
OMIM:194300	KRT74	121391	HP:0002208	Coarse hair
OMIM:194300	KRT74	121391	HP:0000006	Autosomal dominant inheritance
OMIM:271665	DDR2	4921	HP:0002869	Flared iliac wings
OMIM:271665	DDR2	4921	HP:0005257	Thoracic hypoplasia
OMIM:271665	DDR2	4921	HP:0030043	Hip Subluxation
OMIM:271665	DDR2	4921	HP:0001263	Global developmental delay
OMIM:271665	DDR2	4921	HP:0002007	Frontal bossing
OMIM:271665	DDR2	4921	HP:0000272	Malar flattening
OMIM:271665	DDR2	4921	HP:0000520	Proptosis
OMIM:271665	DDR2	4921	HP:0003311	Hypoplasia of the odontoid process
OMIM:271665	DDR2	4921	HP:0006532	Recurrent pneumonia
OMIM:271665	DDR2	4921	HP:0009803	Short phalanx of finger
OMIM:271665	DDR2	4921	HP:0002983	Micromelia
OMIM:271665	DDR2	4921	HP:0003026	Short long bone
OMIM:271665	DDR2	4921	HP:0000773	Short ribs
OMIM:271665	DDR2	4921	HP:0008873	Disproportionate short-limb short stature
OMIM:271665	DDR2	4921	HP:0006380	Knee flexion contracture
OMIM:271665	DDR2	4921	HP:0001252	Muscular hypotonia
OMIM:271665	DDR2	4921	HP:0001840	Metatarsus adductus
OMIM:271665	DDR2	4921	HP:0040199	Flat midface
OMIM:271665	DDR2	4921	HP:0000007	Autosomal recessive inheritance
OMIM:271665	DDR2	4921	HP:0002650	Scoliosis
OMIM:271665	DDR2	4921	HP:0000347	Micrognathia
OMIM:271665	DDR2	4921	HP:0005280	Depressed nasal bridge
OMIM:271665	DDR2	4921	HP:0000767	Pectus excavatum
OMIM:271665	DDR2	4921	HP:0001591	Bell-shaped thorax
OMIM:271665	DDR2	4921	HP:0002176	Spinal cord compression
OMIM:271665	DDR2	4921	HP:0010049	Short metacarpal
OMIM:271665	DDR2	4921	HP:0000218	High palate
OMIM:271665	DDR2	4921	HP:0002979	Bowing of the legs
OMIM:271665	DDR2	4921	HP:0002987	Elbow flexion contracture
OMIM:271665	DDR2	4921	HP:0003196	Short nose
OMIM:271665	DDR2	4921	HP:0000316	Hypertelorism
OMIM:271665	DDR2	4921	HP:0002091	Restrictive lung disease
OMIM:271665	DDR2	4921	HP:0002787	Tracheal calcification
OMIM:271665	DDR2	4921	HP:0003015	Flared metaphysis
OMIM:271665	DDR2	4921	HP:0006009	Broad phalanx
OMIM:271665	DDR2	4921	HP:0000464	Abnormality of the neck
OMIM:271665	DDR2	4921	HP:0000926	Platyspondyly
OMIM:271665	DDR2	4921	HP:0010655	Epiphyseal stippling
OMIM:271665	DDR2	4921	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:271665	DDR2	4921	HP:0009164	Abnormal calcification of the carpal bones
OMIM:616249	CALM1	801	HP:0001662	Bradycardia
OMIM:616249	CALM1	801	HP:0001695	Cardiac arrest
OMIM:616249	CALM2	805	HP:0001662	Bradycardia
OMIM:616249	CALM2	805	HP:0001695	Cardiac arrest
OMIM:616249	KCNE2	9992	HP:0001662	Bradycardia
OMIM:616249	KCNE2	9992	HP:0001695	Cardiac arrest
OMIM:616249	KCNQ1	3784	HP:0001662	Bradycardia
OMIM:616249	KCNQ1	3784	HP:0001695	Cardiac arrest
OMIM:616249	KCNE1	3753	HP:0001662	Bradycardia
OMIM:616249	KCNE1	3753	HP:0001695	Cardiac arrest
OMIM:616249	KCNH2	3757	HP:0001662	Bradycardia
OMIM:616249	KCNH2	3757	HP:0001695	Cardiac arrest
OMIM:616249	SNTA1	6640	HP:0001662	Bradycardia
OMIM:616249	SNTA1	6640	HP:0001695	Cardiac arrest
OMIM:616249	KCNJ5	3762	HP:0001662	Bradycardia
OMIM:616249	KCNJ5	3762	HP:0001695	Cardiac arrest
OMIM:616249	SCN4B	6330	HP:0001662	Bradycardia
OMIM:616249	SCN4B	6330	HP:0001695	Cardiac arrest
OMIM:616249	NOS1AP	9722	HP:0001662	Bradycardia
OMIM:616249	NOS1AP	9722	HP:0001695	Cardiac arrest
OMIM:616249	SCN5A	6331	HP:0001662	Bradycardia
OMIM:616249	SCN5A	6331	HP:0001695	Cardiac arrest
OMIM:616249	CAV3	859	HP:0001662	Bradycardia
OMIM:616249	CAV3	859	HP:0001695	Cardiac arrest
OMIM:616249	AKAP9	10142	HP:0001662	Bradycardia
OMIM:616249	AKAP9	10142	HP:0001695	Cardiac arrest
OMIM:616249	ANK2	287	HP:0001662	Bradycardia
OMIM:616249	ANK2	287	HP:0001695	Cardiac arrest
OMIM:178300	ZFHX4	79776	HP:0000006	Autosomal dominant inheritance
OMIM:616263	PTRH2	51651	HP:0001249	Intellectual disability
OMIM:616263	PTRH2	51651	HP:0001252	Muscular hypotonia
OMIM:616263	PTRH2	51651	HP:0000316	Hypertelorism
OMIM:616263	PTRH2	51651	HP:0000407	Sensorineural hearing impairment
OMIM:616263	PTRH2	51651	HP:0000252	Microcephaly
OMIM:616263	PTRH2	51651	HP:0000577	Exotropia
OMIM:616263	PTRH2	51651	HP:0001272	Cerebellar atrophy
OMIM:616263	PTRH2	51651	HP:0002827	Hip dislocation
OMIM:616263	PTRH2	51651	HP:0002240	Hepatomegaly
OMIM:616263	PTRH2	51651	HP:0002460	Distal muscle weakness
OMIM:616263	PTRH2	51651	HP:0002570	Steatorrhea
OMIM:616263	PTRH2	51651	HP:0000821	Hypothyroidism
OMIM:616263	PTRH2	51651	HP:0001395	Hepatic fibrosis
OMIM:616263	PTRH2	51651	HP:0009623	Proximal placement of thumb
OMIM:616263	PTRH2	51651	HP:0011800	Hypoplasia of midface
OMIM:616263	PTRH2	51651	HP:0000248	Brachycephaly
OMIM:616263	PTRH2	51651	HP:0001762	Talipes equinovarus
OMIM:616263	PTRH2	51651	HP:0001508	Failure to thrive
OMIM:616263	PTRH2	51651	HP:0000049	Shawl scrotum
OMIM:616263	PTRH2	51651	HP:0000219	Thin upper lip vermilion
OMIM:616263	PTRH2	51651	HP:0001251	Ataxia
OMIM:616263	PTRH2	51651	HP:0001263	Global developmental delay
OMIM:616263	PTRH2	51651	HP:0004322	Short stature
OMIM:214400	GDAP1	54332	HP:0000007	Autosomal recessive inheritance
OMIM:214400	GDAP1	54332	HP:0001265	Hyporeflexia
OMIM:214400	GDAP1	54332	HP:0003693	Distal amyotrophy
OMIM:214400	GDAP1	54332	HP:0001270	Motor delay
OMIM:214400	GDAP1	54332	HP:0002460	Distal muscle weakness
OMIM:214400	GDAP1	54332	HP:0002936	Distal sensory impairment
OMIM:214400	GDAP1	54332	HP:0003431	Decreased motor nerve conduction velocity
OMIM:214400	GDAP1	54332	HP:0001284	Areflexia
OMIM:214400	GDAP1	54332	HP:0003593	Infantile onset
OMIM:214400	GDAP1	54332	HP:0007182	Peripheral hypomyelination
OMIM:214400	GDAP1	54332	HP:0001425	Heterogeneous
OMIM:214400	GDAP1	54332	HP:0001765	Hammertoe
OMIM:214400	GDAP1	54332	HP:0002751	Kyphoscoliosis
OMIM:214400	GDAP1	54332	HP:0000764	Peripheral axonal degeneration
OMIM:214400	GDAP1	54332	HP:0003429	CNS hypomyelination
OMIM:214400	GDAP1	54332	HP:0001178	Ulnar claw
OMIM:214400	GDAP1	54332	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:214400	GDAP1	54332	HP:0003678	Rapidly progressive
OMIM:613943	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:613943	ALOXE3	59344	HP:0000962	Hyperkeratosis
OMIM:613943	ALOXE3	59344	HP:0008064	Ichthyosis
OMIM:613943	ALOX12B	242	HP:0000007	Autosomal recessive inheritance
OMIM:613943	ALOX12B	242	HP:0000962	Hyperkeratosis
OMIM:613943	ALOX12B	242	HP:0008064	Ichthyosis
OMIM:613943	LIPN	643418	HP:0000007	Autosomal recessive inheritance
OMIM:613943	LIPN	643418	HP:0000962	Hyperkeratosis
OMIM:613943	LIPN	643418	HP:0008064	Ichthyosis
OMIM:613943	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:613943	ABCA12	26154	HP:0000962	Hyperkeratosis
OMIM:613943	ABCA12	26154	HP:0008064	Ichthyosis
OMIM:613943	TGM1	7051	HP:0000007	Autosomal recessive inheritance
OMIM:613943	TGM1	7051	HP:0000962	Hyperkeratosis
OMIM:613943	TGM1	7051	HP:0008064	Ichthyosis
OMIM:613943	CYP4F22	126410	HP:0000007	Autosomal recessive inheritance
OMIM:613943	CYP4F22	126410	HP:0000962	Hyperkeratosis
OMIM:613943	CYP4F22	126410	HP:0008064	Ichthyosis
OMIM:613943	NIPAL4	348938	HP:0000007	Autosomal recessive inheritance
OMIM:613943	NIPAL4	348938	HP:0000962	Hyperkeratosis
OMIM:613943	NIPAL4	348938	HP:0008064	Ichthyosis
OMIM:613820	TTC21B	79809	HP:0000007	Autosomal recessive inheritance
OMIM:613820	TTC21B	79809	HP:0003774	Stage 5 chronic kidney disease
OMIM:613820	TTC21B	79809	HP:0000090	Nephronophthisis
OMIM:612359	PTEN	5728	HP:0002895	Papillary thyroid carcinoma
OMIM:612359	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:612359	PTEN	5728	HP:0003002	Breast carcinoma
OMIM:612359	KLLN	100144748	HP:0002895	Papillary thyroid carcinoma
OMIM:612359	KLLN	100144748	HP:0000006	Autosomal dominant inheritance
OMIM:612359	KLLN	100144748	HP:0003002	Breast carcinoma
OMIM:612359	SDHB	6390	HP:0002895	Papillary thyroid carcinoma
OMIM:612359	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:612359	SDHB	6390	HP:0003002	Breast carcinoma
OMIM:612359	SDHC	6391	HP:0002895	Papillary thyroid carcinoma
OMIM:612359	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:612359	SDHC	6391	HP:0003002	Breast carcinoma
OMIM:612359	SDHD	6392	HP:0002895	Papillary thyroid carcinoma
OMIM:612359	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:612359	SDHD	6392	HP:0003002	Breast carcinoma
OMIM:612359	PIK3CA	5290	HP:0002895	Papillary thyroid carcinoma
OMIM:612359	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:612359	PIK3CA	5290	HP:0003002	Breast carcinoma
OMIM:612359	AKT1	207	HP:0002895	Papillary thyroid carcinoma
OMIM:612359	AKT1	207	HP:0000006	Autosomal dominant inheritance
OMIM:612359	AKT1	207	HP:0003002	Breast carcinoma
OMIM:108145	PIEZO2	63895	HP:0000006	Autosomal dominant inheritance
OMIM:108145	PIEZO2	63895	HP:0000540	Hypermetropia
OMIM:108145	PIEZO2	63895	HP:0001547	Abnormality of the rib cage
OMIM:108145	PIEZO2	63895	HP:0002091	Restrictive lung disease
OMIM:108145	PIEZO2	63895	HP:0100490	Camptodactyly of finger
OMIM:108145	PIEZO2	63895	HP:0000483	Astigmatism
OMIM:108145	PIEZO2	63895	HP:0006109	Absent phalangeal crease
OMIM:108145	PIEZO2	63895	HP:0002804	Arthrogryposis multiplex congenita
OMIM:108145	PIEZO2	63895	HP:0000508	Ptosis
OMIM:108145	PIEZO2	63895	HP:0000400	Macrotia
OMIM:108145	PIEZO2	63895	HP:0000512	Abnormal electroretinogram
OMIM:108145	PIEZO2	63895	HP:0000767	Pectus excavatum
OMIM:108145	PIEZO2	63895	HP:0001166	Arachnodactyly
OMIM:108145	PIEZO2	63895	HP:0001376	Limitation of joint mobility
OMIM:108145	PIEZO2	63895	HP:0000581	Blepharophimosis
OMIM:108145	PIEZO2	63895	HP:0000648	Optic atrophy
OMIM:108145	PIEZO2	63895	HP:0004322	Short stature
OMIM:108145	PIEZO2	63895	HP:0000490	Deeply set eye
OMIM:108145	PIEZO2	63895	HP:0000325	Triangular face
OMIM:108145	PIEZO2	63895	HP:0000486	Strabismus
OMIM:108145	PIEZO2	63895	HP:0000597	Ophthalmoparesis
OMIM:108145	PIEZO2	63895	HP:0001776	Bilateral talipes equinovarus
OMIM:108145	PIEZO2	63895	HP:0030084	Clinodactyly
OMIM:108145	PIEZO2	63895	HP:0000505	Visual impairment
OMIM:108145	PIEZO2	63895	HP:0001883	Talipes
OMIM:108145	PIEZO2	63895	HP:0000286	Epicanthus
OMIM:108145	PIEZO2	63895	HP:0002650	Scoliosis
OMIM:108145	PIEZO2	63895	HP:0007703	Abnormality of retinal pigmentation
OMIM:108145	PIEZO2	63895	HP:0000563	Keratoconus
OMIM:108145	PIEZO2	63895	HP:0000602	Ophthalmoplegia
OMIM:108145	PIEZO2	63895	HP:0000218	High palate
OMIM:108145	PIEZO2	63895	HP:0004097	Deviation of finger
OMIM:108145	PIEZO2	63895	HP:0004673	Decreased facial expression
OMIM:108145	PIEZO2	63895	HP:0009921	Duane anomaly
OMIM:108145	PIEZO2	63895	HP:0004299	Hernia of the abdominal wall
OMIM:108145	PIEZO2	63895	HP:0000411	Protruding ear
OMIM:304800	AQP2	359	HP:0000737	Irritability
OMIM:304800	AQP2	359	HP:0008872	Feeding difficulties in infancy
OMIM:304800	AQP2	359	HP:0001419	X-linked recessive inheritance
OMIM:304800	AQP2	359	HP:0001250	Seizures
OMIM:304800	AQP2	359	HP:0002013	Vomiting
OMIM:304800	AQP2	359	HP:0002019	Constipation
OMIM:304800	AQP2	359	HP:0001249	Intellectual disability
OMIM:304800	AQP2	359	HP:0001508	Failure to thrive
OMIM:304800	AQP2	359	HP:0003623	Neonatal onset
OMIM:304800	AQP2	359	HP:0004322	Short stature
OMIM:304800	AQP2	359	HP:0000873	Diabetes insipidus
OMIM:304800	AVPR2	554	HP:0000737	Irritability
OMIM:304800	AVPR2	554	HP:0008872	Feeding difficulties in infancy
OMIM:304800	AVPR2	554	HP:0001419	X-linked recessive inheritance
OMIM:304800	AVPR2	554	HP:0001250	Seizures
OMIM:304800	AVPR2	554	HP:0002013	Vomiting
OMIM:304800	AVPR2	554	HP:0002019	Constipation
OMIM:304800	AVPR2	554	HP:0001249	Intellectual disability
OMIM:304800	AVPR2	554	HP:0001508	Failure to thrive
OMIM:304800	AVPR2	554	HP:0003623	Neonatal onset
OMIM:304800	AVPR2	554	HP:0004322	Short stature
OMIM:304800	AVPR2	554	HP:0000873	Diabetes insipidus
OMIM:613550	TMEM67	91147	HP:0000090	Nephronophthisis
OMIM:613550	TMEM67	91147	HP:0001903	Anemia
OMIM:613550	TMEM67	91147	HP:0001510	Growth delay
OMIM:613550	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:613550	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:613550	TMEM67	91147	HP:0001395	Hepatic fibrosis
OMIM:613550	TMEM67	91147	HP:0000639	Nystagmus
OMIM:613550	TMEM67	91147	HP:0000486	Strabismus
OMIM:613550	TMEM67	91147	HP:0000546	Retinal degeneration
OMIM:613550	TMEM67	91147	HP:0003774	Stage 5 chronic kidney disease
OMIM:300486	OPHN1	4983	HP:0003189	Long nose
OMIM:300486	OPHN1	4983	HP:0001263	Global developmental delay
OMIM:300486	OPHN1	4983	HP:0000717	Autism
OMIM:300486	OPHN1	4983	HP:0000276	Long face
OMIM:300486	OPHN1	4983	HP:0000256	Macrocephaly
OMIM:300486	OPHN1	4983	HP:0000486	Strabismus
OMIM:300486	OPHN1	4983	HP:0000219	Thin upper lip vermilion
OMIM:300486	OPHN1	4983	HP:0002167	Neurological speech impairment
OMIM:300486	OPHN1	4983	HP:0001419	X-linked recessive inheritance
OMIM:300486	OPHN1	4983	HP:0100543	Cognitive impairment
OMIM:300486	OPHN1	4983	HP:0002120	Cerebral cortical atrophy
OMIM:300486	OPHN1	4983	HP:0000303	Mandibular prognathia
OMIM:300486	OPHN1	4983	HP:0000750	Delayed speech and language development
OMIM:300486	OPHN1	4983	HP:0000336	Prominent supraorbital ridges
OMIM:300486	OPHN1	4983	HP:0001250	Seizures
OMIM:300486	OPHN1	4983	HP:0000400	Macrotia
OMIM:300486	OPHN1	4983	HP:0007018	Attention deficit hyperactivity disorder
OMIM:300486	OPHN1	4983	HP:0011220	Prominent forehead
OMIM:300486	OPHN1	4983	HP:0001249	Intellectual disability
OMIM:300486	OPHN1	4983	HP:0002007	Frontal bossing
OMIM:300486	OPHN1	4983	HP:0001257	Spasticity
OMIM:300486	OPHN1	4983	HP:0001321	Cerebellar hypoplasia
OMIM:300486	OPHN1	4983	HP:0002119	Ventriculomegaly
OMIM:300486	OPHN1	4983	HP:0000752	Hyperactivity
OMIM:300486	OPHN1	4983	HP:0000028	Cryptorchidism
OMIM:300486	OPHN1	4983	HP:0001252	Muscular hypotonia
OMIM:300486	OPHN1	4983	HP:0030260	Microphallus
OMIM:300486	OPHN1	4983	HP:0000490	Deeply set eye
OMIM:300486	OPHN1	4983	HP:0002311	Incoordination
OMIM:300486	OPHN1	4983	HP:0000046	Scrotal hypoplasia
OMIM:300486	OPHN1	4983	HP:0003593	Infantile onset
OMIM:300486	OPHN1	4983	HP:0000601	Hypotelorism
OMIM:300486	OPHN1	4983	HP:0000153	Abnormality of the mouth
OMIM:300486	OPHN1	4983	HP:0000054	Micropenis
OMIM:300486	OPHN1	4983	HP:0000639	Nystagmus
OMIM:300486	OPHN1	4983	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:300486	OPHN1	4983	HP:0000322	Short philtrum
OMIM:300486	OPHN1	4983	HP:0002066	Gait ataxia
OMIM:613320	PAM16	51025	HP:0003021	Metaphyseal cupping
OMIM:613320	PAM16	51025	HP:0000369	Low-set ears
OMIM:613320	PAM16	51025	HP:0000470	Short neck
OMIM:613320	PAM16	51025	HP:0002983	Micromelia
OMIM:613320	PAM16	51025	HP:0001518	Small for gestational age
OMIM:613320	PAM16	51025	HP:0008551	Microtia
OMIM:613320	PAM16	51025	HP:0002007	Frontal bossing
OMIM:613320	PAM16	51025	HP:0000773	Short ribs
OMIM:613320	PAM16	51025	HP:0001591	Bell-shaped thorax
OMIM:613320	PAM16	51025	HP:0000007	Autosomal recessive inheritance
OMIM:613320	PAM16	51025	HP:0004565	Severe platyspondyly
OMIM:613320	PAM16	51025	HP:0000239	Large fontanelles
OMIM:613320	PAM16	51025	HP:0011220	Prominent forehead
OMIM:613320	PAM16	51025	HP:0000311	Round face
OMIM:613320	PAM16	51025	HP:0008936	Muscular hypotonia of the trunk
OMIM:613320	PAM16	51025	HP:0003196	Short nose
OMIM:613320	PAM16	51025	HP:0001640	Cardiomegaly
OMIM:613320	PAM16	51025	HP:0002789	Tachypnea
OMIM:613320	PAM16	51025	HP:0000774	Narrow chest
OMIM:613320	PAM16	51025	HP:0001263	Global developmental delay
OMIM:613320	PAM16	51025	HP:0002750	Delayed skeletal maturation
OMIM:613320	PAM16	51025	HP:0003026	Short long bone
OMIM:613320	PAM16	51025	HP:0003177	Squared iliac bones
OMIM:613320	PAM16	51025	HP:0004322	Short stature
OMIM:613320	PAM16	51025	HP:0005280	Depressed nasal bridge
OMIM:613320	PAM16	51025	HP:0003175	Hypoplastic ischia
OMIM:613320	PAM16	51025	HP:0000463	Anteverted nares
OMIM:613320	PAM16	51025	HP:0002645	Wormian bones
OMIM:613313	HFE2	148738	HP:0011031	Abnormality of iron homeostasis
OMIM:613313	HAMP	57817	HP:0011031	Abnormality of iron homeostasis
OMIM:300849	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300849	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300849	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300849	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300849	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300849	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300849	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300849	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300849	SYP	6855	HP:0001249	Intellectual disability
OMIM:300849	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300849	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300849	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300849	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300849	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300849	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300849	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300849	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300849	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300849	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300849	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300849	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300849	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300849	DMD	1756	HP:0001249	Intellectual disability
OMIM:300849	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300849	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300849	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300849	MID2	11043	HP:0001249	Intellectual disability
OMIM:300849	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300849	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300849	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300849	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300849	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300849	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300849	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300849	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300849	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300849	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300849	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300849	MED12	9968	HP:0001249	Intellectual disability
OMIM:300849	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300849	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300849	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300849	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300849	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300849	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300849	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300849	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300849	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300849	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300849	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300849	ARX	170302	HP:0001249	Intellectual disability
OMIM:300849	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300849	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300849	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300849	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300849	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:615631	C15ORF41	84529	HP:0001792	Small nail
OMIM:615631	C15ORF41	84529	HP:0001159	Syndactyly
OMIM:615631	C15ORF41	84529	HP:0002240	Hepatomegaly
OMIM:615631	C15ORF41	84529	HP:0000980	Pallor
OMIM:615631	C15ORF41	84529	HP:0000952	Jaundice
OMIM:615631	C15ORF41	84529	HP:0001923	Reticulocytosis
OMIM:615631	C15ORF41	84529	HP:0000007	Autosomal recessive inheritance
OMIM:615631	C15ORF41	84529	HP:0010972	Anemia of inadequate production
OMIM:615631	C15ORF41	84529	HP:0001744	Splenomegaly
OMIM:615631	C15ORF41	84529	HP:0004322	Short stature
OMIM:615631	CDAN1	146059	HP:0001792	Small nail
OMIM:615631	CDAN1	146059	HP:0001159	Syndactyly
OMIM:615631	CDAN1	146059	HP:0002240	Hepatomegaly
OMIM:615631	CDAN1	146059	HP:0000980	Pallor
OMIM:615631	CDAN1	146059	HP:0000952	Jaundice
OMIM:615631	CDAN1	146059	HP:0001923	Reticulocytosis
OMIM:615631	CDAN1	146059	HP:0000007	Autosomal recessive inheritance
OMIM:615631	CDAN1	146059	HP:0010972	Anemia of inadequate production
OMIM:615631	CDAN1	146059	HP:0001744	Splenomegaly
OMIM:615631	CDAN1	146059	HP:0004322	Short stature
OMIM:309860	MAOB	4129	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:309860	MAOB	4129	HP:0001417	X-linked inheritance
OMIM:616649	SPTA1	6708	HP:0000952	Jaundice
OMIM:616649	SPTA1	6708	HP:0001878	Hemolytic anemia
OMIM:616649	SPTA1	6708	HP:0001923	Reticulocytosis
OMIM:616649	SPTA1	6708	HP:0002904	Hyperbilirubinemia
OMIM:616649	SPTA1	6708	HP:0001744	Splenomegaly
OMIM:616649	SPTB	6710	HP:0000952	Jaundice
OMIM:616649	SPTB	6710	HP:0001878	Hemolytic anemia
OMIM:616649	SPTB	6710	HP:0001923	Reticulocytosis
OMIM:616649	SPTB	6710	HP:0002904	Hyperbilirubinemia
OMIM:616649	SPTB	6710	HP:0001744	Splenomegaly
OMIM:616649	EPB42	2038	HP:0000952	Jaundice
OMIM:616649	EPB42	2038	HP:0001878	Hemolytic anemia
OMIM:616649	EPB42	2038	HP:0001923	Reticulocytosis
OMIM:616649	EPB42	2038	HP:0002904	Hyperbilirubinemia
OMIM:616649	EPB42	2038	HP:0001744	Splenomegaly
OMIM:616649	SLC4A1	6521	HP:0000952	Jaundice
OMIM:616649	SLC4A1	6521	HP:0001878	Hemolytic anemia
OMIM:616649	SLC4A1	6521	HP:0001923	Reticulocytosis
OMIM:616649	SLC4A1	6521	HP:0002904	Hyperbilirubinemia
OMIM:616649	SLC4A1	6521	HP:0001744	Splenomegaly
OMIM:616649	ANK1	286	HP:0000952	Jaundice
OMIM:616649	ANK1	286	HP:0001878	Hemolytic anemia
OMIM:616649	ANK1	286	HP:0001923	Reticulocytosis
OMIM:616649	ANK1	286	HP:0002904	Hyperbilirubinemia
OMIM:616649	ANK1	286	HP:0001744	Splenomegaly
OMIM:616026	HNF1B	6928	HP:0000819	Diabetes mellitus
OMIM:616026	HNF1B	6928	HP:0003355	Aminoaciduria
OMIM:616026	HNF1B	6928	HP:0004322	Short stature
OMIM:616026	HNF1B	6928	HP:0000121	Nephrocalcinosis
OMIM:616026	HNF1B	6928	HP:0001943	Hypoglycemia
OMIM:616026	HNF1B	6928	HP:0002240	Hepatomegaly
OMIM:616026	HNF4A	3172	HP:0000819	Diabetes mellitus
OMIM:616026	HNF4A	3172	HP:0003355	Aminoaciduria
OMIM:616026	HNF4A	3172	HP:0004322	Short stature
OMIM:616026	HNF4A	3172	HP:0000121	Nephrocalcinosis
OMIM:616026	HNF4A	3172	HP:0001943	Hypoglycemia
OMIM:616026	HNF4A	3172	HP:0002240	Hepatomegaly
OMIM:133020	SCN10A	6336	HP:0001962	Palpitations
OMIM:133020	SCN10A	6336	HP:0000006	Autosomal dominant inheritance
OMIM:133020	SCN10A	6336	HP:0000622	Blurred vision
OMIM:133020	SCN10A	6336	HP:0003011	Abnormality of the musculature
OMIM:133020	SCN10A	6336	HP:0000217	Xerostomia
OMIM:133020	SCN10A	6336	HP:0003621	Juvenile onset
OMIM:133020	SCN10A	6336	HP:0000975	Hyperhidrosis
OMIM:133020	SCN10A	6336	HP:0002014	Diarrhea
OMIM:133020	SCN10A	6336	HP:0003326	Myalgia
OMIM:133020	SCN10A	6336	HP:0012531	Pain
OMIM:133020	SCN10A	6336	HP:0002019	Constipation
OMIM:133020	SCN11A	11280	HP:0001962	Palpitations
OMIM:133020	SCN11A	11280	HP:0000006	Autosomal dominant inheritance
OMIM:133020	SCN11A	11280	HP:0000622	Blurred vision
OMIM:133020	SCN11A	11280	HP:0003011	Abnormality of the musculature
OMIM:133020	SCN11A	11280	HP:0000217	Xerostomia
OMIM:133020	SCN11A	11280	HP:0003621	Juvenile onset
OMIM:133020	SCN11A	11280	HP:0000975	Hyperhidrosis
OMIM:133020	SCN11A	11280	HP:0002014	Diarrhea
OMIM:133020	SCN11A	11280	HP:0003326	Myalgia
OMIM:133020	SCN11A	11280	HP:0012531	Pain
OMIM:133020	SCN11A	11280	HP:0002019	Constipation
OMIM:133020	SCN9A	6335	HP:0001962	Palpitations
OMIM:133020	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:133020	SCN9A	6335	HP:0000622	Blurred vision
OMIM:133020	SCN9A	6335	HP:0003011	Abnormality of the musculature
OMIM:133020	SCN9A	6335	HP:0000217	Xerostomia
OMIM:133020	SCN9A	6335	HP:0003621	Juvenile onset
OMIM:133020	SCN9A	6335	HP:0000975	Hyperhidrosis
OMIM:133020	SCN9A	6335	HP:0002014	Diarrhea
OMIM:133020	SCN9A	6335	HP:0003326	Myalgia
OMIM:133020	SCN9A	6335	HP:0012531	Pain
OMIM:133020	SCN9A	6335	HP:0002019	Constipation
OMIM:188030	FCGR2C	9103	HP:0000006	Autosomal dominant inheritance
OMIM:188030	FCGR2C	9103	HP:0001873	Thrombocytopenia
OMIM:188030	FCGR2C	9103	HP:0001892	Abnormal bleeding
OMIM:250850	MAT1A	4143	HP:0001332	Dystonia
OMIM:250850	MAT1A	4143	HP:0007305	CNS demyelination
OMIM:250850	MAT1A	4143	HP:0003235	Hypermethioninemia
OMIM:250850	MAT1A	4143	HP:0000006	Autosomal dominant inheritance
OMIM:250850	MAT1A	4143	HP:0001249	Intellectual disability
OMIM:250850	MAT1A	4143	HP:0001347	Hyperreflexia
OMIM:250850	MAT1A	4143	HP:0011096	Peripheral demyelination
OMIM:250850	MAT1A	4143	HP:0000007	Autosomal recessive inheritance
OMIM:307150	SOX3	6658	HP:0002650	Scoliosis
OMIM:307150	SOX3	6658	HP:0001007	Hirsutism
OMIM:307150	SOX3	6658	HP:0001423	X-linked dominant inheritance
OMIM:615578	SFXN4	119559	HP:0001972	Macrocytic anemia
OMIM:615578	SFXN4	119559	HP:0001310	Dysmetria
OMIM:615578	SFXN4	119559	HP:0000007	Autosomal recessive inheritance
OMIM:615578	SFXN4	119559	HP:0001511	Intrauterine growth retardation
OMIM:615578	SFXN4	119559	HP:0000505	Visual impairment
OMIM:615578	SFXN4	119559	HP:0000750	Delayed speech and language development
OMIM:615578	SFXN4	119559	HP:0002151	Increased serum lactate
OMIM:615578	SFXN4	119559	HP:0003202	Skeletal muscle atrophy
OMIM:615578	SFXN4	119559	HP:0001252	Muscular hypotonia
OMIM:615578	SFXN4	119559	HP:0003828	Variable expressivity
OMIM:615578	SFXN4	119559	HP:0001249	Intellectual disability
OMIM:615578	SFXN4	119559	HP:0003128	Lactic acidosis
OMIM:615578	SFXN4	119559	HP:0001337	Tremor
OMIM:614053	ATP5E	514	HP:0009830	Peripheral neuropathy
OMIM:614053	ATP5E	514	HP:0001249	Intellectual disability
OMIM:614053	ATP5E	514	HP:0000007	Autosomal recessive inheritance
OMIM:614053	ATP5E	514	HP:0003128	Lactic acidosis
OMIM:614053	ATP5E	514	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614053	ATP5A1	498	HP:0009830	Peripheral neuropathy
OMIM:614053	ATP5A1	498	HP:0001249	Intellectual disability
OMIM:614053	ATP5A1	498	HP:0000007	Autosomal recessive inheritance
OMIM:614053	ATP5A1	498	HP:0003128	Lactic acidosis
OMIM:614053	ATP5A1	498	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614053	ATPAF1	64756	HP:0009830	Peripheral neuropathy
OMIM:614053	ATPAF1	64756	HP:0001249	Intellectual disability
OMIM:614053	ATPAF1	64756	HP:0000007	Autosomal recessive inheritance
OMIM:614053	ATPAF1	64756	HP:0003128	Lactic acidosis
OMIM:614053	ATPAF1	64756	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614053	ATPAF2	91647	HP:0009830	Peripheral neuropathy
OMIM:614053	ATPAF2	91647	HP:0001249	Intellectual disability
OMIM:614053	ATPAF2	91647	HP:0000007	Autosomal recessive inheritance
OMIM:614053	ATPAF2	91647	HP:0003128	Lactic acidosis
OMIM:614053	ATPAF2	91647	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300863	HDAC6	10013	HP:0002652	Skeletal dysplasia
OMIM:300863	HDAC6	10013	HP:0000238	Hydrocephalus
OMIM:300863	HDAC6	10013	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:300863	HDAC6	10013	HP:0000368	Low-set, posteriorly rotated ears
OMIM:300863	HDAC6	10013	HP:0000926	Platyspondyly
OMIM:300863	HDAC6	10013	HP:0000878	11 pairs of ribs
OMIM:300863	HDAC6	10013	HP:0002007	Frontal bossing
OMIM:300863	HDAC6	10013	HP:0003196	Short nose
OMIM:300863	HDAC6	10013	HP:0003028	Abnormality of the ankles
OMIM:300863	HDAC6	10013	HP:0001156	Brachydactyly syndrome
OMIM:300863	HDAC6	10013	HP:0000962	Hyperkeratosis
OMIM:300863	HDAC6	10013	HP:0004331	Decreased skull ossification
OMIM:300863	HDAC6	10013	HP:0000322	Short philtrum
OMIM:300863	HDAC6	10013	HP:0001163	Abnormality of the metacarpal bones
OMIM:300863	HDAC6	10013	HP:0000256	Macrocephaly
OMIM:300863	HDAC6	10013	HP:0001511	Intrauterine growth retardation
OMIM:300863	HDAC6	10013	HP:0000457	Depressed nasal ridge
OMIM:300863	HDAC6	10013	HP:0001249	Intellectual disability
OMIM:300863	HDAC6	10013	HP:0004322	Short stature
OMIM:300863	HDAC6	10013	HP:0008905	Rhizomelia
OMIM:300863	HDAC6	10013	HP:0000154	Wide mouth
OMIM:300863	HDAC6	10013	HP:0100543	Cognitive impairment
OMIM:300863	HDAC6	10013	HP:0001831	Short toe
OMIM:300863	HDAC6	10013	HP:0009826	Limb undergrowth
OMIM:300863	HDAC6	10013	HP:0100555	Asymmetric growth
OMIM:300863	HDAC6	10013	HP:0000347	Micrognathia
OMIM:300863	HDAC6	10013	HP:0001423	X-linked dominant inheritance
OMIM:300863	HDAC6	10013	HP:0000568	Microphthalmia
OMIM:300863	HDAC6	10013	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:615500	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:615500	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:615500	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:615500	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:615500	DNAAF2	55172	HP:0000789	Infertility
OMIM:615500	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:615500	CCNO	10309	HP:0000246	Sinusitis
OMIM:615500	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:615500	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:615500	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:615500	CCNO	10309	HP:0000789	Infertility
OMIM:615500	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:615500	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:615500	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:615500	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:615500	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:615500	DNAAF5	54919	HP:0000789	Infertility
OMIM:615500	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:615500	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:615500	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:615500	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:615500	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:615500	DNAAF3	352909	HP:0000789	Infertility
OMIM:615500	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:615500	DNAI1	27019	HP:0000246	Sinusitis
OMIM:615500	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:615500	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:615500	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:615500	DNAI1	27019	HP:0000789	Infertility
OMIM:615500	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:615500	DRC1	92749	HP:0000246	Sinusitis
OMIM:615500	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:615500	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:615500	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:615500	DRC1	92749	HP:0000789	Infertility
OMIM:615500	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:615500	SPAG1	6674	HP:0000246	Sinusitis
OMIM:615500	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:615500	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:615500	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:615500	SPAG1	6674	HP:0000789	Infertility
OMIM:615500	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:615500	RSPH3	83861	HP:0000246	Sinusitis
OMIM:615500	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:615500	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:615500	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:615500	RSPH3	83861	HP:0000789	Infertility
OMIM:615500	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:615500	RPGR	6103	HP:0000246	Sinusitis
OMIM:615500	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:615500	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:615500	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:615500	RPGR	6103	HP:0000789	Infertility
OMIM:615500	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615500	LRRC6	23639	HP:0000246	Sinusitis
OMIM:615500	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:615500	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:615500	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:615500	LRRC6	23639	HP:0000789	Infertility
OMIM:615500	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:615500	DNAL1	83544	HP:0000246	Sinusitis
OMIM:615500	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:615500	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:615500	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:615500	DNAL1	83544	HP:0000789	Infertility
OMIM:615500	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:615500	ARMC4	55130	HP:0000246	Sinusitis
OMIM:615500	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:615500	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:615500	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:615500	ARMC4	55130	HP:0000789	Infertility
OMIM:615500	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:615500	CCDC103	388389	HP:0000246	Sinusitis
OMIM:615500	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:615500	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:615500	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:615500	CCDC103	388389	HP:0000789	Infertility
OMIM:615500	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:615500	OFD1	8481	HP:0000246	Sinusitis
OMIM:615500	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:615500	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:615500	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:615500	OFD1	8481	HP:0000789	Infertility
OMIM:615500	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615500	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:615500	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:615500	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:615500	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:615500	DNAAF1	123872	HP:0000789	Infertility
OMIM:615500	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:615500	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:615500	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:615500	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:615500	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:615500	RSPH4A	345895	HP:0000789	Infertility
OMIM:615500	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:615500	RSPH1	89765	HP:0000246	Sinusitis
OMIM:615500	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:615500	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:615500	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:615500	RSPH1	89765	HP:0000789	Infertility
OMIM:615500	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:615500	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:615500	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:615500	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:615500	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:615500	ZMYND10	51364	HP:0000789	Infertility
OMIM:615500	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:615500	DNAH5	1767	HP:0000246	Sinusitis
OMIM:615500	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:615500	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:615500	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:615500	DNAH5	1767	HP:0000789	Infertility
OMIM:615500	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:615500	CCDC65	85478	HP:0000246	Sinusitis
OMIM:615500	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:615500	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:615500	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:615500	CCDC65	85478	HP:0000789	Infertility
OMIM:615500	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:615500	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:615500	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:615500	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:615500	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:615500	C21ORF59	56683	HP:0000789	Infertility
OMIM:615500	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:615500	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:615500	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:615500	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:615500	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:615500	DYX1C1	161582	HP:0000789	Infertility
OMIM:615500	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:615500	CCDC151	115948	HP:0000246	Sinusitis
OMIM:615500	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:615500	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:615500	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:615500	CCDC151	115948	HP:0000789	Infertility
OMIM:615500	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:615500	RSPH9	221421	HP:0000246	Sinusitis
OMIM:615500	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:615500	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:615500	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:615500	RSPH9	221421	HP:0000789	Infertility
OMIM:615500	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:615500	CCDC39	339829	HP:0000246	Sinusitis
OMIM:615500	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:615500	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:615500	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:615500	CCDC39	339829	HP:0000789	Infertility
OMIM:615500	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:615500	HYDIN	54768	HP:0000246	Sinusitis
OMIM:615500	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:615500	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:615500	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:615500	HYDIN	54768	HP:0000789	Infertility
OMIM:615500	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:615500	CCDC114	93233	HP:0000246	Sinusitis
OMIM:615500	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:615500	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:615500	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:615500	CCDC114	93233	HP:0000789	Infertility
OMIM:615500	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:615500	NME8	51314	HP:0000246	Sinusitis
OMIM:615500	NME8	51314	HP:0002110	Bronchiectasis
OMIM:615500	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:615500	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:615500	NME8	51314	HP:0000789	Infertility
OMIM:615500	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:615500	CCDC40	55036	HP:0000246	Sinusitis
OMIM:615500	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:615500	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:615500	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:615500	CCDC40	55036	HP:0000789	Infertility
OMIM:615500	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:615500	DNAH11	8701	HP:0000246	Sinusitis
OMIM:615500	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:615500	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:615500	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:615500	DNAH11	8701	HP:0000789	Infertility
OMIM:615500	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:615500	DNAI2	64446	HP:0000246	Sinusitis
OMIM:615500	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:615500	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:615500	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:615500	DNAI2	64446	HP:0000789	Infertility
OMIM:615500	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:615500	GAS8	2622	HP:0000246	Sinusitis
OMIM:615500	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:615500	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:615500	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:615500	GAS8	2622	HP:0000789	Infertility
OMIM:615500	GAS8	2622	HP:0000007	Autosomal recessive inheritance
ORPHANET:85408	TYK2	7297	HP:0002960	Autoimmunity
ORPHANET:85408	TYK2	7297	HP:0001369	Arthritis
ORPHANET:85408	TYK2	7297	HP:0002829	Arthralgia
ORPHANET:85408	TYK2	7297	HP:0000164	Abnormality of the teeth
ORPHANET:85408	TYK2	7297	HP:0001376	Limitation of joint mobility
ORPHANET:85408	FAS	355	HP:0002960	Autoimmunity
ORPHANET:85408	FAS	355	HP:0001369	Arthritis
ORPHANET:85408	FAS	355	HP:0002829	Arthralgia
ORPHANET:85408	FAS	355	HP:0000164	Abnormality of the teeth
ORPHANET:85408	FAS	355	HP:0001376	Limitation of joint mobility
ORPHANET:85408	IL2RA	3559	HP:0002960	Autoimmunity
ORPHANET:85408	IL2RA	3559	HP:0001369	Arthritis
ORPHANET:85408	IL2RA	3559	HP:0002829	Arthralgia
ORPHANET:85408	IL2RA	3559	HP:0000164	Abnormality of the teeth
ORPHANET:85408	IL2RA	3559	HP:0001376	Limitation of joint mobility
ORPHANET:85408	CD247	919	HP:0002960	Autoimmunity
ORPHANET:85408	CD247	919	HP:0001369	Arthritis
ORPHANET:85408	CD247	919	HP:0002829	Arthralgia
ORPHANET:85408	CD247	919	HP:0000164	Abnormality of the teeth
ORPHANET:85408	CD247	919	HP:0001376	Limitation of joint mobility
ORPHANET:85408	STAT4	6775	HP:0002960	Autoimmunity
ORPHANET:85408	STAT4	6775	HP:0001369	Arthritis
ORPHANET:85408	STAT4	6775	HP:0002829	Arthralgia
ORPHANET:85408	STAT4	6775	HP:0000164	Abnormality of the teeth
ORPHANET:85408	STAT4	6775	HP:0001376	Limitation of joint mobility
ORPHANET:85408	IL2RB	3560	HP:0002960	Autoimmunity
ORPHANET:85408	IL2RB	3560	HP:0001369	Arthritis
ORPHANET:85408	IL2RB	3560	HP:0002829	Arthralgia
ORPHANET:85408	IL2RB	3560	HP:0000164	Abnormality of the teeth
ORPHANET:85408	IL2RB	3560	HP:0001376	Limitation of joint mobility
ORPHANET:85408	PTPN2	5771	HP:0002960	Autoimmunity
ORPHANET:85408	PTPN2	5771	HP:0001369	Arthritis
ORPHANET:85408	PTPN2	5771	HP:0002829	Arthralgia
ORPHANET:85408	PTPN2	5771	HP:0000164	Abnormality of the teeth
ORPHANET:85408	PTPN2	5771	HP:0001376	Limitation of joint mobility
ORPHANET:85408	ANKRD55	79722	HP:0002960	Autoimmunity
ORPHANET:85408	ANKRD55	79722	HP:0001369	Arthritis
ORPHANET:85408	ANKRD55	79722	HP:0002829	Arthralgia
ORPHANET:85408	ANKRD55	79722	HP:0000164	Abnormality of the teeth
ORPHANET:85408	ANKRD55	79722	HP:0001376	Limitation of joint mobility
ORPHANET:85408	PTPN22	26191	HP:0002960	Autoimmunity
ORPHANET:85408	PTPN22	26191	HP:0001369	Arthritis
ORPHANET:85408	PTPN22	26191	HP:0002829	Arthralgia
ORPHANET:85408	PTPN22	26191	HP:0000164	Abnormality of the teeth
ORPHANET:85408	PTPN22	26191	HP:0001376	Limitation of joint mobility
OMIM:613398	DDX11	1663	HP:0001249	Intellectual disability
OMIM:613398	DDX11	1663	HP:0000007	Autosomal recessive inheritance
OMIM:613398	DDX11	1663	HP:0000365	Hearing impairment
OMIM:613398	DDX11	1663	HP:0000252	Microcephaly
OMIM:613398	DDX11	1663	HP:0000378	Cupped ear
OMIM:613398	DDX11	1663	HP:0001636	Tetralogy of Fallot
OMIM:613398	DDX11	1663	HP:0000588	Optic nerve coloboma
OMIM:613398	DDX11	1663	HP:0001263	Global developmental delay
OMIM:613398	DDX11	1663	HP:0000274	Small face
OMIM:613398	DDX11	1663	HP:0000340	Sloping forehead
OMIM:613398	DDX11	1663	HP:0000218	High palate
OMIM:613398	DDX11	1663	HP:0000154	Wide mouth
OMIM:613398	DDX11	1663	HP:0001252	Muscular hypotonia
OMIM:613398	DDX11	1663	HP:0001511	Intrauterine growth retardation
OMIM:613398	DDX11	1663	HP:0000965	Cutis marmorata
OMIM:613398	DDX11	1663	HP:0000954	Single transverse palmar crease
OMIM:613398	DDX11	1663	HP:0000286	Epicanthus
OMIM:613398	DDX11	1663	HP:0001629	Ventricular septal defect
OMIM:613398	DDX11	1663	HP:0004691	2-3 toe syndactyly
OMIM:136800	COL8A2	1296	HP:0001131	Corneal dystrophy
OMIM:136800	COL8A2	1296	HP:0000006	Autosomal dominant inheritance
OMIM:136800	SLC4A11	83959	HP:0001131	Corneal dystrophy
OMIM:136800	SLC4A11	83959	HP:0000006	Autosomal dominant inheritance
OMIM:136800	ZEB1	6935	HP:0001131	Corneal dystrophy
OMIM:136800	ZEB1	6935	HP:0000006	Autosomal dominant inheritance
OMIM:136800	AGBL1	123624	HP:0001131	Corneal dystrophy
OMIM:136800	AGBL1	123624	HP:0000006	Autosomal dominant inheritance
OMIM:136800	TCF4	6925	HP:0001131	Corneal dystrophy
OMIM:136800	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:602097	PCDH15	65217	HP:0008527	Congenital sensorineural hearing impairment
OMIM:602097	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:602097	PCDH15	65217	HP:0008568	Vestibular areflexia
OMIM:602097	PCDH15	65217	HP:0000510	Rod-cone dystrophy
OMIM:602097	USH1C	10083	HP:0008527	Congenital sensorineural hearing impairment
OMIM:602097	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:602097	USH1C	10083	HP:0008568	Vestibular areflexia
OMIM:602097	USH1C	10083	HP:0000510	Rod-cone dystrophy
OMIM:602097	CIB2	10518	HP:0008527	Congenital sensorineural hearing impairment
OMIM:602097	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:602097	CIB2	10518	HP:0008568	Vestibular areflexia
OMIM:602097	CIB2	10518	HP:0000510	Rod-cone dystrophy
OMIM:602097	MYO7A	4647	HP:0008527	Congenital sensorineural hearing impairment
OMIM:602097	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:602097	MYO7A	4647	HP:0008568	Vestibular areflexia
OMIM:602097	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:602097	CDH23	64072	HP:0008527	Congenital sensorineural hearing impairment
OMIM:602097	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:602097	CDH23	64072	HP:0008568	Vestibular areflexia
OMIM:602097	CDH23	64072	HP:0000510	Rod-cone dystrophy
OMIM:602097	USH1G	124590	HP:0008527	Congenital sensorineural hearing impairment
OMIM:602097	USH1G	124590	HP:0000007	Autosomal recessive inheritance
OMIM:602097	USH1G	124590	HP:0008568	Vestibular areflexia
OMIM:602097	USH1G	124590	HP:0000510	Rod-cone dystrophy
OMIM:616170	MFSD8	256471	HP:0011504	Bull's eye maculopathy
OMIM:616170	MFSD8	256471	HP:0000505	Visual impairment
OMIM:616170	MFSD8	256471	HP:0007663	Reduced visual acuity
OMIM:616170	MFSD8	256471	HP:0000543	Optic disc pallor
OMIM:259710	CLCN7	1186	HP:0002857	Genu valgum
OMIM:259710	CLCN7	1186	HP:0000618	Blindness
OMIM:259710	CLCN7	1186	HP:0001873	Thrombocytopenia
OMIM:259710	CLCN7	1186	HP:0002757	Recurrent fractures
OMIM:259710	CLCN7	1186	HP:0001903	Anemia
OMIM:259710	CLCN7	1186	HP:0006335	Persistence of primary teeth
OMIM:259710	CLCN7	1186	HP:0000007	Autosomal recessive inheritance
OMIM:259710	CLCN7	1186	HP:0001433	Hepatosplenomegaly
OMIM:259710	CLCN7	1186	HP:0001876	Pancytopenia
OMIM:259710	CLCN7	1186	HP:0000670	Carious teeth
OMIM:259710	CLCN7	1186	HP:0004437	Cranial hyperostosis
OMIM:259710	CLCN7	1186	HP:0000303	Mandibular prognathia
OMIM:259710	CLCN7	1186	HP:0000648	Optic atrophy
OMIM:259710	TNFSF11	8600	HP:0002857	Genu valgum
OMIM:259710	TNFSF11	8600	HP:0000618	Blindness
OMIM:259710	TNFSF11	8600	HP:0001873	Thrombocytopenia
OMIM:259710	TNFSF11	8600	HP:0002757	Recurrent fractures
OMIM:259710	TNFSF11	8600	HP:0001903	Anemia
OMIM:259710	TNFSF11	8600	HP:0006335	Persistence of primary teeth
OMIM:259710	TNFSF11	8600	HP:0000007	Autosomal recessive inheritance
OMIM:259710	TNFSF11	8600	HP:0001433	Hepatosplenomegaly
OMIM:259710	TNFSF11	8600	HP:0001876	Pancytopenia
OMIM:259710	TNFSF11	8600	HP:0000670	Carious teeth
OMIM:259710	TNFSF11	8600	HP:0004437	Cranial hyperostosis
OMIM:259710	TNFSF11	8600	HP:0000303	Mandibular prognathia
OMIM:259710	TNFSF11	8600	HP:0000648	Optic atrophy
OMIM:259710	TCIRG1	10312	HP:0002857	Genu valgum
OMIM:259710	TCIRG1	10312	HP:0000618	Blindness
OMIM:259710	TCIRG1	10312	HP:0001873	Thrombocytopenia
OMIM:259710	TCIRG1	10312	HP:0002757	Recurrent fractures
OMIM:259710	TCIRG1	10312	HP:0001903	Anemia
OMIM:259710	TCIRG1	10312	HP:0006335	Persistence of primary teeth
OMIM:259710	TCIRG1	10312	HP:0000007	Autosomal recessive inheritance
OMIM:259710	TCIRG1	10312	HP:0001433	Hepatosplenomegaly
OMIM:259710	TCIRG1	10312	HP:0001876	Pancytopenia
OMIM:259710	TCIRG1	10312	HP:0000670	Carious teeth
OMIM:259710	TCIRG1	10312	HP:0004437	Cranial hyperostosis
OMIM:259710	TCIRG1	10312	HP:0000303	Mandibular prognathia
OMIM:259710	TCIRG1	10312	HP:0000648	Optic atrophy
OMIM:259710	SNX10	29887	HP:0002857	Genu valgum
OMIM:259710	SNX10	29887	HP:0000618	Blindness
OMIM:259710	SNX10	29887	HP:0001873	Thrombocytopenia
OMIM:259710	SNX10	29887	HP:0002757	Recurrent fractures
OMIM:259710	SNX10	29887	HP:0001903	Anemia
OMIM:259710	SNX10	29887	HP:0006335	Persistence of primary teeth
OMIM:259710	SNX10	29887	HP:0000007	Autosomal recessive inheritance
OMIM:259710	SNX10	29887	HP:0001433	Hepatosplenomegaly
OMIM:259710	SNX10	29887	HP:0001876	Pancytopenia
OMIM:259710	SNX10	29887	HP:0000670	Carious teeth
OMIM:259710	SNX10	29887	HP:0004437	Cranial hyperostosis
OMIM:259710	SNX10	29887	HP:0000303	Mandibular prognathia
OMIM:259710	SNX10	29887	HP:0000648	Optic atrophy
OMIM:615516	HERC2	8924	HP:0001252	Muscular hypotonia
OMIM:615516	HERC2	8924	HP:0000742	Self-mutilation
OMIM:615516	HERC2	8924	HP:0000718	Aggressive behavior
OMIM:615516	HERC2	8924	HP:0001852	Sandal gap
OMIM:615516	HERC2	8924	HP:0001263	Global developmental delay
OMIM:615516	HERC2	8924	HP:0002317	Unsteady gait
OMIM:615516	HERC2	8924	HP:0000752	Hyperactivity
OMIM:615516	HERC2	8924	HP:0001249	Intellectual disability
OMIM:615516	HERC2	8924	HP:0000189	Narrow palate
OMIM:615516	HERC2	8924	HP:0000486	Strabismus
OMIM:615516	HERC2	8924	HP:0000635	Blue irides
OMIM:615516	HERC2	8924	HP:0001357	Plagiocephaly
OMIM:615516	HERC2	8924	HP:0003593	Infantile onset
OMIM:615516	HERC2	8924	HP:0000007	Autosomal recessive inheritance
OMIM:615516	HERC2	8924	HP:0001250	Seizures
OMIM:615516	HERC2	8924	HP:0000303	Mandibular prognathia
OMIM:166220	SPARC	6678	HP:0002650	Scoliosis
OMIM:166220	SPARC	6678	HP:0004349	Reduced bone mineral density
OMIM:166220	SPARC	6678	HP:0000006	Autosomal dominant inheritance
OMIM:166220	SPARC	6678	HP:0004322	Short stature
OMIM:166220	SPARC	6678	HP:0002808	Kyphosis
OMIM:166220	SPARC	6678	HP:0000365	Hearing impairment
OMIM:166220	SPARC	6678	HP:0000592	Blue sclerae
OMIM:166220	SPARC	6678	HP:0002757	Recurrent fractures
OMIM:166220	SPARC	6678	HP:0002645	Wormian bones
OMIM:166220	PPIB	5479	HP:0002650	Scoliosis
OMIM:166220	PPIB	5479	HP:0004349	Reduced bone mineral density
OMIM:166220	PPIB	5479	HP:0000006	Autosomal dominant inheritance
OMIM:166220	PPIB	5479	HP:0004322	Short stature
OMIM:166220	PPIB	5479	HP:0002808	Kyphosis
OMIM:166220	PPIB	5479	HP:0000365	Hearing impairment
OMIM:166220	PPIB	5479	HP:0000592	Blue sclerae
OMIM:166220	PPIB	5479	HP:0002757	Recurrent fractures
OMIM:166220	PPIB	5479	HP:0002645	Wormian bones
OMIM:166220	SERPINF1	5176	HP:0002650	Scoliosis
OMIM:166220	SERPINF1	5176	HP:0004349	Reduced bone mineral density
OMIM:166220	SERPINF1	5176	HP:0000006	Autosomal dominant inheritance
OMIM:166220	SERPINF1	5176	HP:0004322	Short stature
OMIM:166220	SERPINF1	5176	HP:0002808	Kyphosis
OMIM:166220	SERPINF1	5176	HP:0000365	Hearing impairment
OMIM:166220	SERPINF1	5176	HP:0000592	Blue sclerae
OMIM:166220	SERPINF1	5176	HP:0002757	Recurrent fractures
OMIM:166220	SERPINF1	5176	HP:0002645	Wormian bones
OMIM:166220	FKBP10	60681	HP:0002650	Scoliosis
OMIM:166220	FKBP10	60681	HP:0004349	Reduced bone mineral density
OMIM:166220	FKBP10	60681	HP:0000006	Autosomal dominant inheritance
OMIM:166220	FKBP10	60681	HP:0004322	Short stature
OMIM:166220	FKBP10	60681	HP:0002808	Kyphosis
OMIM:166220	FKBP10	60681	HP:0000365	Hearing impairment
OMIM:166220	FKBP10	60681	HP:0000592	Blue sclerae
OMIM:166220	FKBP10	60681	HP:0002757	Recurrent fractures
OMIM:166220	FKBP10	60681	HP:0002645	Wormian bones
OMIM:166220	CRTAP	10491	HP:0002650	Scoliosis
OMIM:166220	CRTAP	10491	HP:0004349	Reduced bone mineral density
OMIM:166220	CRTAP	10491	HP:0000006	Autosomal dominant inheritance
OMIM:166220	CRTAP	10491	HP:0004322	Short stature
OMIM:166220	CRTAP	10491	HP:0002808	Kyphosis
OMIM:166220	CRTAP	10491	HP:0000365	Hearing impairment
OMIM:166220	CRTAP	10491	HP:0000592	Blue sclerae
OMIM:166220	CRTAP	10491	HP:0002757	Recurrent fractures
OMIM:166220	CRTAP	10491	HP:0002645	Wormian bones
OMIM:166220	COL1A1	1277	HP:0002650	Scoliosis
OMIM:166220	COL1A1	1277	HP:0004349	Reduced bone mineral density
OMIM:166220	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:166220	COL1A1	1277	HP:0004322	Short stature
OMIM:166220	COL1A1	1277	HP:0002808	Kyphosis
OMIM:166220	COL1A1	1277	HP:0000365	Hearing impairment
OMIM:166220	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:166220	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:166220	COL1A1	1277	HP:0002645	Wormian bones
OMIM:166220	SP7	121340	HP:0002650	Scoliosis
OMIM:166220	SP7	121340	HP:0004349	Reduced bone mineral density
OMIM:166220	SP7	121340	HP:0000006	Autosomal dominant inheritance
OMIM:166220	SP7	121340	HP:0004322	Short stature
OMIM:166220	SP7	121340	HP:0002808	Kyphosis
OMIM:166220	SP7	121340	HP:0000365	Hearing impairment
OMIM:166220	SP7	121340	HP:0000592	Blue sclerae
OMIM:166220	SP7	121340	HP:0002757	Recurrent fractures
OMIM:166220	SP7	121340	HP:0002645	Wormian bones
OMIM:166220	COL1A2	1278	HP:0002650	Scoliosis
OMIM:166220	COL1A2	1278	HP:0004349	Reduced bone mineral density
OMIM:166220	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
OMIM:166220	COL1A2	1278	HP:0004322	Short stature
OMIM:166220	COL1A2	1278	HP:0002808	Kyphosis
OMIM:166220	COL1A2	1278	HP:0000365	Hearing impairment
OMIM:166220	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:166220	COL1A2	1278	HP:0002757	Recurrent fractures
OMIM:166220	COL1A2	1278	HP:0002645	Wormian bones
OMIM:166220	TMEM38B	55151	HP:0002650	Scoliosis
OMIM:166220	TMEM38B	55151	HP:0004349	Reduced bone mineral density
OMIM:166220	TMEM38B	55151	HP:0000006	Autosomal dominant inheritance
OMIM:166220	TMEM38B	55151	HP:0004322	Short stature
OMIM:166220	TMEM38B	55151	HP:0002808	Kyphosis
OMIM:166220	TMEM38B	55151	HP:0000365	Hearing impairment
OMIM:166220	TMEM38B	55151	HP:0000592	Blue sclerae
OMIM:166220	TMEM38B	55151	HP:0002757	Recurrent fractures
OMIM:166220	TMEM38B	55151	HP:0002645	Wormian bones
OMIM:166220	WNT1	7471	HP:0002650	Scoliosis
OMIM:166220	WNT1	7471	HP:0004349	Reduced bone mineral density
OMIM:166220	WNT1	7471	HP:0000006	Autosomal dominant inheritance
OMIM:166220	WNT1	7471	HP:0004322	Short stature
OMIM:166220	WNT1	7471	HP:0002808	Kyphosis
OMIM:166220	WNT1	7471	HP:0000365	Hearing impairment
OMIM:166220	WNT1	7471	HP:0000592	Blue sclerae
OMIM:166220	WNT1	7471	HP:0002757	Recurrent fractures
OMIM:166220	WNT1	7471	HP:0002645	Wormian bones
OMIM:272750	GM2A	2760	HP:0001263	Global developmental delay
OMIM:272750	GM2A	2760	HP:0001250	Seizures
OMIM:272750	GM2A	2760	HP:0003470	Paralysis
OMIM:272750	GM2A	2760	HP:0000618	Blindness
OMIM:272750	GM2A	2760	HP:0002421	Poor head control
OMIM:272750	GM2A	2760	HP:0000741	Apathy
OMIM:272750	GM2A	2760	HP:0001276	Hypertonia
OMIM:272750	GM2A	2760	HP:0000007	Autosomal recessive inheritance
OMIM:272750	GM2A	2760	HP:0000726	Dementia
OMIM:272750	GM2A	2760	HP:0001252	Muscular hypotonia
OMIM:272750	GM2A	2760	HP:0002267	Exaggerated startle response
OMIM:610185	ATP8A2	51761	HP:0002078	Truncal ataxia
OMIM:610185	ATP8A2	51761	HP:0000007	Autosomal recessive inheritance
OMIM:610185	ATP8A2	51761	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610185	ATP8A2	51761	HP:0004279	Short palm
OMIM:610185	ATP8A2	51761	HP:0001337	Tremor
OMIM:610185	ATP8A2	51761	HP:0001265	Hyporeflexia
OMIM:610185	ATP8A2	51761	HP:0001321	Cerebellar hypoplasia
OMIM:610185	ATP8A2	51761	HP:0001773	Short foot
OMIM:610185	ATP8A2	51761	HP:0000750	Delayed speech and language development
OMIM:610185	ATP8A2	51761	HP:0200055	Small hand
OMIM:610185	ATP8A2	51761	HP:0001007	Hirsutism
OMIM:610185	ATP8A2	51761	HP:0001272	Cerebellar atrophy
OMIM:610185	ATP8A2	51761	HP:0003593	Infantile onset
OMIM:610185	ATP8A2	51761	HP:0001263	Global developmental delay
OMIM:610185	ATP8A2	51761	HP:0002075	Dysdiadochokinesis
OMIM:610185	ATP8A2	51761	HP:0002943	Thoracic scoliosis
OMIM:610185	ATP8A2	51761	HP:0004322	Short stature
OMIM:610185	ATP8A2	51761	HP:0006887	Intellectual disability, progressive
OMIM:610185	ATP8A2	51761	HP:0000464	Abnormality of the neck
OMIM:610185	ATP8A2	51761	HP:0000280	Coarse facial features
OMIM:610185	ATP8A2	51761	HP:0010864	Intellectual disability, severe
OMIM:610185	ATP8A2	51761	HP:0001260	Dysarthria
OMIM:610185	ATP8A2	51761	HP:0000486	Strabismus
OMIM:610185	ATP8A2	51761	HP:0001310	Dysmetria
OMIM:610185	WDR81	124997	HP:0002078	Truncal ataxia
OMIM:610185	WDR81	124997	HP:0000007	Autosomal recessive inheritance
OMIM:610185	WDR81	124997	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610185	WDR81	124997	HP:0004279	Short palm
OMIM:610185	WDR81	124997	HP:0001337	Tremor
OMIM:610185	WDR81	124997	HP:0001265	Hyporeflexia
OMIM:610185	WDR81	124997	HP:0001321	Cerebellar hypoplasia
OMIM:610185	WDR81	124997	HP:0001773	Short foot
OMIM:610185	WDR81	124997	HP:0000750	Delayed speech and language development
OMIM:610185	WDR81	124997	HP:0200055	Small hand
OMIM:610185	WDR81	124997	HP:0001007	Hirsutism
OMIM:610185	WDR81	124997	HP:0001272	Cerebellar atrophy
OMIM:610185	WDR81	124997	HP:0003593	Infantile onset
OMIM:610185	WDR81	124997	HP:0001263	Global developmental delay
OMIM:610185	WDR81	124997	HP:0002075	Dysdiadochokinesis
OMIM:610185	WDR81	124997	HP:0002943	Thoracic scoliosis
OMIM:610185	WDR81	124997	HP:0004322	Short stature
OMIM:610185	WDR81	124997	HP:0006887	Intellectual disability, progressive
OMIM:610185	WDR81	124997	HP:0000464	Abnormality of the neck
OMIM:610185	WDR81	124997	HP:0000280	Coarse facial features
OMIM:610185	WDR81	124997	HP:0010864	Intellectual disability, severe
OMIM:610185	WDR81	124997	HP:0001260	Dysarthria
OMIM:610185	WDR81	124997	HP:0000486	Strabismus
OMIM:610185	WDR81	124997	HP:0001310	Dysmetria
OMIM:610185	VLDLR	7436	HP:0002078	Truncal ataxia
OMIM:610185	VLDLR	7436	HP:0000007	Autosomal recessive inheritance
OMIM:610185	VLDLR	7436	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610185	VLDLR	7436	HP:0004279	Short palm
OMIM:610185	VLDLR	7436	HP:0001337	Tremor
OMIM:610185	VLDLR	7436	HP:0001265	Hyporeflexia
OMIM:610185	VLDLR	7436	HP:0001321	Cerebellar hypoplasia
OMIM:610185	VLDLR	7436	HP:0001773	Short foot
OMIM:610185	VLDLR	7436	HP:0000750	Delayed speech and language development
OMIM:610185	VLDLR	7436	HP:0200055	Small hand
OMIM:610185	VLDLR	7436	HP:0001007	Hirsutism
OMIM:610185	VLDLR	7436	HP:0001272	Cerebellar atrophy
OMIM:610185	VLDLR	7436	HP:0003593	Infantile onset
OMIM:610185	VLDLR	7436	HP:0001263	Global developmental delay
OMIM:610185	VLDLR	7436	HP:0002075	Dysdiadochokinesis
OMIM:610185	VLDLR	7436	HP:0002943	Thoracic scoliosis
OMIM:610185	VLDLR	7436	HP:0004322	Short stature
OMIM:610185	VLDLR	7436	HP:0006887	Intellectual disability, progressive
OMIM:610185	VLDLR	7436	HP:0000464	Abnormality of the neck
OMIM:610185	VLDLR	7436	HP:0000280	Coarse facial features
OMIM:610185	VLDLR	7436	HP:0010864	Intellectual disability, severe
OMIM:610185	VLDLR	7436	HP:0001260	Dysarthria
OMIM:610185	VLDLR	7436	HP:0000486	Strabismus
OMIM:610185	VLDLR	7436	HP:0001310	Dysmetria
OMIM:610185	CA8	767	HP:0002078	Truncal ataxia
OMIM:610185	CA8	767	HP:0000007	Autosomal recessive inheritance
OMIM:610185	CA8	767	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610185	CA8	767	HP:0004279	Short palm
OMIM:610185	CA8	767	HP:0001337	Tremor
OMIM:610185	CA8	767	HP:0001265	Hyporeflexia
OMIM:610185	CA8	767	HP:0001321	Cerebellar hypoplasia
OMIM:610185	CA8	767	HP:0001773	Short foot
OMIM:610185	CA8	767	HP:0000750	Delayed speech and language development
OMIM:610185	CA8	767	HP:0200055	Small hand
OMIM:610185	CA8	767	HP:0001007	Hirsutism
OMIM:610185	CA8	767	HP:0001272	Cerebellar atrophy
OMIM:610185	CA8	767	HP:0003593	Infantile onset
OMIM:610185	CA8	767	HP:0001263	Global developmental delay
OMIM:610185	CA8	767	HP:0002075	Dysdiadochokinesis
OMIM:610185	CA8	767	HP:0002943	Thoracic scoliosis
OMIM:610185	CA8	767	HP:0004322	Short stature
OMIM:610185	CA8	767	HP:0006887	Intellectual disability, progressive
OMIM:610185	CA8	767	HP:0000464	Abnormality of the neck
OMIM:610185	CA8	767	HP:0000280	Coarse facial features
OMIM:610185	CA8	767	HP:0010864	Intellectual disability, severe
OMIM:610185	CA8	767	HP:0001260	Dysarthria
OMIM:610185	CA8	767	HP:0000486	Strabismus
OMIM:610185	CA8	767	HP:0001310	Dysmetria
OMIM:208000	ABCC6	368	HP:0001658	Myocardial infarction
OMIM:208000	ABCC6	368	HP:0001635	Congestive heart failure
OMIM:208000	ABCC6	368	HP:0004322	Short stature
OMIM:208000	ABCC6	368	HP:0000822	Hypertension
OMIM:208000	ABCC6	368	HP:0000007	Autosomal recessive inheritance
OMIM:208000	ENPP1	5167	HP:0001658	Myocardial infarction
OMIM:208000	ENPP1	5167	HP:0001635	Congestive heart failure
OMIM:208000	ENPP1	5167	HP:0004322	Short stature
OMIM:208000	ENPP1	5167	HP:0000822	Hypertension
OMIM:208000	ENPP1	5167	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCC	2176	HP:0001903	Anemia
OMIM:614083	FANCC	2176	HP:0000957	Cafe-au-lait spot
OMIM:614083	FANCC	2176	HP:0003220	Abnormality of chromosome stability
OMIM:614083	FANCC	2176	HP:0000568	Microphthalmia
OMIM:614083	FANCC	2176	HP:0005528	Bone marrow hypocellularity
OMIM:614083	FANCC	2176	HP:0009777	Absent thumb
OMIM:614083	FANCC	2176	HP:0001511	Intrauterine growth retardation
OMIM:614083	FANCC	2176	HP:0000175	Cleft palate
OMIM:614083	FANCC	2176	HP:0000316	Hypertelorism
OMIM:614083	FANCC	2176	HP:0000431	Wide nasal bridge
OMIM:614083	FANCC	2176	HP:0002575	Tracheoesophageal fistula
OMIM:614083	FANCC	2176	HP:0005280	Depressed nasal bridge
OMIM:614083	FANCC	2176	HP:0002032	Esophageal atresia
OMIM:614083	FANCC	2176	HP:0002023	Anal atresia
OMIM:614083	FANCC	2176	HP:0001263	Global developmental delay
OMIM:614083	FANCC	2176	HP:0001999	Abnormal facial shape
OMIM:614083	FANCC	2176	HP:0000054	Micropenis
OMIM:614083	FANCC	2176	HP:0000089	Renal hypoplasia
OMIM:614083	FANCC	2176	HP:0008551	Microtia
OMIM:614083	FANCC	2176	HP:0000238	Hydrocephalus
OMIM:614083	FANCC	2176	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCC	2176	HP:0000470	Short neck
OMIM:614083	FANCD2	2177	HP:0001903	Anemia
OMIM:614083	FANCD2	2177	HP:0000957	Cafe-au-lait spot
OMIM:614083	FANCD2	2177	HP:0003220	Abnormality of chromosome stability
OMIM:614083	FANCD2	2177	HP:0000568	Microphthalmia
OMIM:614083	FANCD2	2177	HP:0005528	Bone marrow hypocellularity
OMIM:614083	FANCD2	2177	HP:0009777	Absent thumb
OMIM:614083	FANCD2	2177	HP:0001511	Intrauterine growth retardation
OMIM:614083	FANCD2	2177	HP:0000175	Cleft palate
OMIM:614083	FANCD2	2177	HP:0000316	Hypertelorism
OMIM:614083	FANCD2	2177	HP:0000431	Wide nasal bridge
OMIM:614083	FANCD2	2177	HP:0002575	Tracheoesophageal fistula
OMIM:614083	FANCD2	2177	HP:0005280	Depressed nasal bridge
OMIM:614083	FANCD2	2177	HP:0002032	Esophageal atresia
OMIM:614083	FANCD2	2177	HP:0002023	Anal atresia
OMIM:614083	FANCD2	2177	HP:0001263	Global developmental delay
OMIM:614083	FANCD2	2177	HP:0001999	Abnormal facial shape
OMIM:614083	FANCD2	2177	HP:0000054	Micropenis
OMIM:614083	FANCD2	2177	HP:0000089	Renal hypoplasia
OMIM:614083	FANCD2	2177	HP:0008551	Microtia
OMIM:614083	FANCD2	2177	HP:0000238	Hydrocephalus
OMIM:614083	FANCD2	2177	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCD2	2177	HP:0000470	Short neck
OMIM:614083	FANCM	57697	HP:0001903	Anemia
OMIM:614083	FANCM	57697	HP:0000957	Cafe-au-lait spot
OMIM:614083	FANCM	57697	HP:0003220	Abnormality of chromosome stability
OMIM:614083	FANCM	57697	HP:0000568	Microphthalmia
OMIM:614083	FANCM	57697	HP:0005528	Bone marrow hypocellularity
OMIM:614083	FANCM	57697	HP:0009777	Absent thumb
OMIM:614083	FANCM	57697	HP:0001511	Intrauterine growth retardation
OMIM:614083	FANCM	57697	HP:0000175	Cleft palate
OMIM:614083	FANCM	57697	HP:0000316	Hypertelorism
OMIM:614083	FANCM	57697	HP:0000431	Wide nasal bridge
OMIM:614083	FANCM	57697	HP:0002575	Tracheoesophageal fistula
OMIM:614083	FANCM	57697	HP:0005280	Depressed nasal bridge
OMIM:614083	FANCM	57697	HP:0002032	Esophageal atresia
OMIM:614083	FANCM	57697	HP:0002023	Anal atresia
OMIM:614083	FANCM	57697	HP:0001263	Global developmental delay
OMIM:614083	FANCM	57697	HP:0001999	Abnormal facial shape
OMIM:614083	FANCM	57697	HP:0000054	Micropenis
OMIM:614083	FANCM	57697	HP:0000089	Renal hypoplasia
OMIM:614083	FANCM	57697	HP:0008551	Microtia
OMIM:614083	FANCM	57697	HP:0000238	Hydrocephalus
OMIM:614083	FANCM	57697	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCM	57697	HP:0000470	Short neck
OMIM:614083	RAD51C	5889	HP:0001903	Anemia
OMIM:614083	RAD51C	5889	HP:0000957	Cafe-au-lait spot
OMIM:614083	RAD51C	5889	HP:0003220	Abnormality of chromosome stability
OMIM:614083	RAD51C	5889	HP:0000568	Microphthalmia
OMIM:614083	RAD51C	5889	HP:0005528	Bone marrow hypocellularity
OMIM:614083	RAD51C	5889	HP:0009777	Absent thumb
OMIM:614083	RAD51C	5889	HP:0001511	Intrauterine growth retardation
OMIM:614083	RAD51C	5889	HP:0000175	Cleft palate
OMIM:614083	RAD51C	5889	HP:0000316	Hypertelorism
OMIM:614083	RAD51C	5889	HP:0000431	Wide nasal bridge
OMIM:614083	RAD51C	5889	HP:0002575	Tracheoesophageal fistula
OMIM:614083	RAD51C	5889	HP:0005280	Depressed nasal bridge
OMIM:614083	RAD51C	5889	HP:0002032	Esophageal atresia
OMIM:614083	RAD51C	5889	HP:0002023	Anal atresia
OMIM:614083	RAD51C	5889	HP:0001263	Global developmental delay
OMIM:614083	RAD51C	5889	HP:0001999	Abnormal facial shape
OMIM:614083	RAD51C	5889	HP:0000054	Micropenis
OMIM:614083	RAD51C	5889	HP:0000089	Renal hypoplasia
OMIM:614083	RAD51C	5889	HP:0008551	Microtia
OMIM:614083	RAD51C	5889	HP:0000238	Hydrocephalus
OMIM:614083	RAD51C	5889	HP:0000007	Autosomal recessive inheritance
OMIM:614083	RAD51C	5889	HP:0000470	Short neck
OMIM:614083	UBE2T	29089	HP:0001903	Anemia
OMIM:614083	UBE2T	29089	HP:0000957	Cafe-au-lait spot
OMIM:614083	UBE2T	29089	HP:0003220	Abnormality of chromosome stability
OMIM:614083	UBE2T	29089	HP:0000568	Microphthalmia
OMIM:614083	UBE2T	29089	HP:0005528	Bone marrow hypocellularity
OMIM:614083	UBE2T	29089	HP:0009777	Absent thumb
OMIM:614083	UBE2T	29089	HP:0001511	Intrauterine growth retardation
OMIM:614083	UBE2T	29089	HP:0000175	Cleft palate
OMIM:614083	UBE2T	29089	HP:0000316	Hypertelorism
OMIM:614083	UBE2T	29089	HP:0000431	Wide nasal bridge
OMIM:614083	UBE2T	29089	HP:0002575	Tracheoesophageal fistula
OMIM:614083	UBE2T	29089	HP:0005280	Depressed nasal bridge
OMIM:614083	UBE2T	29089	HP:0002032	Esophageal atresia
OMIM:614083	UBE2T	29089	HP:0002023	Anal atresia
OMIM:614083	UBE2T	29089	HP:0001263	Global developmental delay
OMIM:614083	UBE2T	29089	HP:0001999	Abnormal facial shape
OMIM:614083	UBE2T	29089	HP:0000054	Micropenis
OMIM:614083	UBE2T	29089	HP:0000089	Renal hypoplasia
OMIM:614083	UBE2T	29089	HP:0008551	Microtia
OMIM:614083	UBE2T	29089	HP:0000238	Hydrocephalus
OMIM:614083	UBE2T	29089	HP:0000007	Autosomal recessive inheritance
OMIM:614083	UBE2T	29089	HP:0000470	Short neck
OMIM:614083	FANCE	2178	HP:0001903	Anemia
OMIM:614083	FANCE	2178	HP:0000957	Cafe-au-lait spot
OMIM:614083	FANCE	2178	HP:0003220	Abnormality of chromosome stability
OMIM:614083	FANCE	2178	HP:0000568	Microphthalmia
OMIM:614083	FANCE	2178	HP:0005528	Bone marrow hypocellularity
OMIM:614083	FANCE	2178	HP:0009777	Absent thumb
OMIM:614083	FANCE	2178	HP:0001511	Intrauterine growth retardation
OMIM:614083	FANCE	2178	HP:0000175	Cleft palate
OMIM:614083	FANCE	2178	HP:0000316	Hypertelorism
OMIM:614083	FANCE	2178	HP:0000431	Wide nasal bridge
OMIM:614083	FANCE	2178	HP:0002575	Tracheoesophageal fistula
OMIM:614083	FANCE	2178	HP:0005280	Depressed nasal bridge
OMIM:614083	FANCE	2178	HP:0002032	Esophageal atresia
OMIM:614083	FANCE	2178	HP:0002023	Anal atresia
OMIM:614083	FANCE	2178	HP:0001263	Global developmental delay
OMIM:614083	FANCE	2178	HP:0001999	Abnormal facial shape
OMIM:614083	FANCE	2178	HP:0000054	Micropenis
OMIM:614083	FANCE	2178	HP:0000089	Renal hypoplasia
OMIM:614083	FANCE	2178	HP:0008551	Microtia
OMIM:614083	FANCE	2178	HP:0000238	Hydrocephalus
OMIM:614083	FANCE	2178	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCE	2178	HP:0000470	Short neck
OMIM:614083	BRCA2	675	HP:0001903	Anemia
OMIM:614083	BRCA2	675	HP:0000957	Cafe-au-lait spot
OMIM:614083	BRCA2	675	HP:0003220	Abnormality of chromosome stability
OMIM:614083	BRCA2	675	HP:0000568	Microphthalmia
OMIM:614083	BRCA2	675	HP:0005528	Bone marrow hypocellularity
OMIM:614083	BRCA2	675	HP:0009777	Absent thumb
OMIM:614083	BRCA2	675	HP:0001511	Intrauterine growth retardation
OMIM:614083	BRCA2	675	HP:0000175	Cleft palate
OMIM:614083	BRCA2	675	HP:0000316	Hypertelorism
OMIM:614083	BRCA2	675	HP:0000431	Wide nasal bridge
OMIM:614083	BRCA2	675	HP:0002575	Tracheoesophageal fistula
OMIM:614083	BRCA2	675	HP:0005280	Depressed nasal bridge
OMIM:614083	BRCA2	675	HP:0002032	Esophageal atresia
OMIM:614083	BRCA2	675	HP:0002023	Anal atresia
OMIM:614083	BRCA2	675	HP:0001263	Global developmental delay
OMIM:614083	BRCA2	675	HP:0001999	Abnormal facial shape
OMIM:614083	BRCA2	675	HP:0000054	Micropenis
OMIM:614083	BRCA2	675	HP:0000089	Renal hypoplasia
OMIM:614083	BRCA2	675	HP:0008551	Microtia
OMIM:614083	BRCA2	675	HP:0000238	Hydrocephalus
OMIM:614083	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:614083	BRCA2	675	HP:0000470	Short neck
OMIM:614083	FANCB	2187	HP:0001903	Anemia
OMIM:614083	FANCB	2187	HP:0000957	Cafe-au-lait spot
OMIM:614083	FANCB	2187	HP:0003220	Abnormality of chromosome stability
OMIM:614083	FANCB	2187	HP:0000568	Microphthalmia
OMIM:614083	FANCB	2187	HP:0005528	Bone marrow hypocellularity
OMIM:614083	FANCB	2187	HP:0009777	Absent thumb
OMIM:614083	FANCB	2187	HP:0001511	Intrauterine growth retardation
OMIM:614083	FANCB	2187	HP:0000175	Cleft palate
OMIM:614083	FANCB	2187	HP:0000316	Hypertelorism
OMIM:614083	FANCB	2187	HP:0000431	Wide nasal bridge
OMIM:614083	FANCB	2187	HP:0002575	Tracheoesophageal fistula
OMIM:614083	FANCB	2187	HP:0005280	Depressed nasal bridge
OMIM:614083	FANCB	2187	HP:0002032	Esophageal atresia
OMIM:614083	FANCB	2187	HP:0002023	Anal atresia
OMIM:614083	FANCB	2187	HP:0001263	Global developmental delay
OMIM:614083	FANCB	2187	HP:0001999	Abnormal facial shape
OMIM:614083	FANCB	2187	HP:0000054	Micropenis
OMIM:614083	FANCB	2187	HP:0000089	Renal hypoplasia
OMIM:614083	FANCB	2187	HP:0008551	Microtia
OMIM:614083	FANCB	2187	HP:0000238	Hydrocephalus
OMIM:614083	FANCB	2187	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCB	2187	HP:0000470	Short neck
OMIM:614083	FANCF	2188	HP:0001903	Anemia
OMIM:614083	FANCF	2188	HP:0000957	Cafe-au-lait spot
OMIM:614083	FANCF	2188	HP:0003220	Abnormality of chromosome stability
OMIM:614083	FANCF	2188	HP:0000568	Microphthalmia
OMIM:614083	FANCF	2188	HP:0005528	Bone marrow hypocellularity
OMIM:614083	FANCF	2188	HP:0009777	Absent thumb
OMIM:614083	FANCF	2188	HP:0001511	Intrauterine growth retardation
OMIM:614083	FANCF	2188	HP:0000175	Cleft palate
OMIM:614083	FANCF	2188	HP:0000316	Hypertelorism
OMIM:614083	FANCF	2188	HP:0000431	Wide nasal bridge
OMIM:614083	FANCF	2188	HP:0002575	Tracheoesophageal fistula
OMIM:614083	FANCF	2188	HP:0005280	Depressed nasal bridge
OMIM:614083	FANCF	2188	HP:0002032	Esophageal atresia
OMIM:614083	FANCF	2188	HP:0002023	Anal atresia
OMIM:614083	FANCF	2188	HP:0001263	Global developmental delay
OMIM:614083	FANCF	2188	HP:0001999	Abnormal facial shape
OMIM:614083	FANCF	2188	HP:0000054	Micropenis
OMIM:614083	FANCF	2188	HP:0000089	Renal hypoplasia
OMIM:614083	FANCF	2188	HP:0008551	Microtia
OMIM:614083	FANCF	2188	HP:0000238	Hydrocephalus
OMIM:614083	FANCF	2188	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCF	2188	HP:0000470	Short neck
OMIM:614083	FANCG	2189	HP:0001903	Anemia
OMIM:614083	FANCG	2189	HP:0000957	Cafe-au-lait spot
OMIM:614083	FANCG	2189	HP:0003220	Abnormality of chromosome stability
OMIM:614083	FANCG	2189	HP:0000568	Microphthalmia
OMIM:614083	FANCG	2189	HP:0005528	Bone marrow hypocellularity
OMIM:614083	FANCG	2189	HP:0009777	Absent thumb
OMIM:614083	FANCG	2189	HP:0001511	Intrauterine growth retardation
OMIM:614083	FANCG	2189	HP:0000175	Cleft palate
OMIM:614083	FANCG	2189	HP:0000316	Hypertelorism
OMIM:614083	FANCG	2189	HP:0000431	Wide nasal bridge
OMIM:614083	FANCG	2189	HP:0002575	Tracheoesophageal fistula
OMIM:614083	FANCG	2189	HP:0005280	Depressed nasal bridge
OMIM:614083	FANCG	2189	HP:0002032	Esophageal atresia
OMIM:614083	FANCG	2189	HP:0002023	Anal atresia
OMIM:614083	FANCG	2189	HP:0001263	Global developmental delay
OMIM:614083	FANCG	2189	HP:0001999	Abnormal facial shape
OMIM:614083	FANCG	2189	HP:0000054	Micropenis
OMIM:614083	FANCG	2189	HP:0000089	Renal hypoplasia
OMIM:614083	FANCG	2189	HP:0008551	Microtia
OMIM:614083	FANCG	2189	HP:0000238	Hydrocephalus
OMIM:614083	FANCG	2189	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCG	2189	HP:0000470	Short neck
OMIM:614083	FANCI	55215	HP:0001903	Anemia
OMIM:614083	FANCI	55215	HP:0000957	Cafe-au-lait spot
OMIM:614083	FANCI	55215	HP:0003220	Abnormality of chromosome stability
OMIM:614083	FANCI	55215	HP:0000568	Microphthalmia
OMIM:614083	FANCI	55215	HP:0005528	Bone marrow hypocellularity
OMIM:614083	FANCI	55215	HP:0009777	Absent thumb
OMIM:614083	FANCI	55215	HP:0001511	Intrauterine growth retardation
OMIM:614083	FANCI	55215	HP:0000175	Cleft palate
OMIM:614083	FANCI	55215	HP:0000316	Hypertelorism
OMIM:614083	FANCI	55215	HP:0000431	Wide nasal bridge
OMIM:614083	FANCI	55215	HP:0002575	Tracheoesophageal fistula
OMIM:614083	FANCI	55215	HP:0005280	Depressed nasal bridge
OMIM:614083	FANCI	55215	HP:0002032	Esophageal atresia
OMIM:614083	FANCI	55215	HP:0002023	Anal atresia
OMIM:614083	FANCI	55215	HP:0001263	Global developmental delay
OMIM:614083	FANCI	55215	HP:0001999	Abnormal facial shape
OMIM:614083	FANCI	55215	HP:0000054	Micropenis
OMIM:614083	FANCI	55215	HP:0000089	Renal hypoplasia
OMIM:614083	FANCI	55215	HP:0008551	Microtia
OMIM:614083	FANCI	55215	HP:0000238	Hydrocephalus
OMIM:614083	FANCI	55215	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCI	55215	HP:0000470	Short neck
OMIM:614083	FANCL	55120	HP:0001903	Anemia
OMIM:614083	FANCL	55120	HP:0000957	Cafe-au-lait spot
OMIM:614083	FANCL	55120	HP:0003220	Abnormality of chromosome stability
OMIM:614083	FANCL	55120	HP:0000568	Microphthalmia
OMIM:614083	FANCL	55120	HP:0005528	Bone marrow hypocellularity
OMIM:614083	FANCL	55120	HP:0009777	Absent thumb
OMIM:614083	FANCL	55120	HP:0001511	Intrauterine growth retardation
OMIM:614083	FANCL	55120	HP:0000175	Cleft palate
OMIM:614083	FANCL	55120	HP:0000316	Hypertelorism
OMIM:614083	FANCL	55120	HP:0000431	Wide nasal bridge
OMIM:614083	FANCL	55120	HP:0002575	Tracheoesophageal fistula
OMIM:614083	FANCL	55120	HP:0005280	Depressed nasal bridge
OMIM:614083	FANCL	55120	HP:0002032	Esophageal atresia
OMIM:614083	FANCL	55120	HP:0002023	Anal atresia
OMIM:614083	FANCL	55120	HP:0001263	Global developmental delay
OMIM:614083	FANCL	55120	HP:0001999	Abnormal facial shape
OMIM:614083	FANCL	55120	HP:0000054	Micropenis
OMIM:614083	FANCL	55120	HP:0000089	Renal hypoplasia
OMIM:614083	FANCL	55120	HP:0008551	Microtia
OMIM:614083	FANCL	55120	HP:0000238	Hydrocephalus
OMIM:614083	FANCL	55120	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCL	55120	HP:0000470	Short neck
OMIM:614083	PALB2	79728	HP:0001903	Anemia
OMIM:614083	PALB2	79728	HP:0000957	Cafe-au-lait spot
OMIM:614083	PALB2	79728	HP:0003220	Abnormality of chromosome stability
OMIM:614083	PALB2	79728	HP:0000568	Microphthalmia
OMIM:614083	PALB2	79728	HP:0005528	Bone marrow hypocellularity
OMIM:614083	PALB2	79728	HP:0009777	Absent thumb
OMIM:614083	PALB2	79728	HP:0001511	Intrauterine growth retardation
OMIM:614083	PALB2	79728	HP:0000175	Cleft palate
OMIM:614083	PALB2	79728	HP:0000316	Hypertelorism
OMIM:614083	PALB2	79728	HP:0000431	Wide nasal bridge
OMIM:614083	PALB2	79728	HP:0002575	Tracheoesophageal fistula
OMIM:614083	PALB2	79728	HP:0005280	Depressed nasal bridge
OMIM:614083	PALB2	79728	HP:0002032	Esophageal atresia
OMIM:614083	PALB2	79728	HP:0002023	Anal atresia
OMIM:614083	PALB2	79728	HP:0001263	Global developmental delay
OMIM:614083	PALB2	79728	HP:0001999	Abnormal facial shape
OMIM:614083	PALB2	79728	HP:0000054	Micropenis
OMIM:614083	PALB2	79728	HP:0000089	Renal hypoplasia
OMIM:614083	PALB2	79728	HP:0008551	Microtia
OMIM:614083	PALB2	79728	HP:0000238	Hydrocephalus
OMIM:614083	PALB2	79728	HP:0000007	Autosomal recessive inheritance
OMIM:614083	PALB2	79728	HP:0000470	Short neck
OMIM:614083	SLX4	84464	HP:0001903	Anemia
OMIM:614083	SLX4	84464	HP:0000957	Cafe-au-lait spot
OMIM:614083	SLX4	84464	HP:0003220	Abnormality of chromosome stability
OMIM:614083	SLX4	84464	HP:0000568	Microphthalmia
OMIM:614083	SLX4	84464	HP:0005528	Bone marrow hypocellularity
OMIM:614083	SLX4	84464	HP:0009777	Absent thumb
OMIM:614083	SLX4	84464	HP:0001511	Intrauterine growth retardation
OMIM:614083	SLX4	84464	HP:0000175	Cleft palate
OMIM:614083	SLX4	84464	HP:0000316	Hypertelorism
OMIM:614083	SLX4	84464	HP:0000431	Wide nasal bridge
OMIM:614083	SLX4	84464	HP:0002575	Tracheoesophageal fistula
OMIM:614083	SLX4	84464	HP:0005280	Depressed nasal bridge
OMIM:614083	SLX4	84464	HP:0002032	Esophageal atresia
OMIM:614083	SLX4	84464	HP:0002023	Anal atresia
OMIM:614083	SLX4	84464	HP:0001263	Global developmental delay
OMIM:614083	SLX4	84464	HP:0001999	Abnormal facial shape
OMIM:614083	SLX4	84464	HP:0000054	Micropenis
OMIM:614083	SLX4	84464	HP:0000089	Renal hypoplasia
OMIM:614083	SLX4	84464	HP:0008551	Microtia
OMIM:614083	SLX4	84464	HP:0000238	Hydrocephalus
OMIM:614083	SLX4	84464	HP:0000007	Autosomal recessive inheritance
OMIM:614083	SLX4	84464	HP:0000470	Short neck
OMIM:614083	BRIP1	83990	HP:0001903	Anemia
OMIM:614083	BRIP1	83990	HP:0000957	Cafe-au-lait spot
OMIM:614083	BRIP1	83990	HP:0003220	Abnormality of chromosome stability
OMIM:614083	BRIP1	83990	HP:0000568	Microphthalmia
OMIM:614083	BRIP1	83990	HP:0005528	Bone marrow hypocellularity
OMIM:614083	BRIP1	83990	HP:0009777	Absent thumb
OMIM:614083	BRIP1	83990	HP:0001511	Intrauterine growth retardation
OMIM:614083	BRIP1	83990	HP:0000175	Cleft palate
OMIM:614083	BRIP1	83990	HP:0000316	Hypertelorism
OMIM:614083	BRIP1	83990	HP:0000431	Wide nasal bridge
OMIM:614083	BRIP1	83990	HP:0002575	Tracheoesophageal fistula
OMIM:614083	BRIP1	83990	HP:0005280	Depressed nasal bridge
OMIM:614083	BRIP1	83990	HP:0002032	Esophageal atresia
OMIM:614083	BRIP1	83990	HP:0002023	Anal atresia
OMIM:614083	BRIP1	83990	HP:0001263	Global developmental delay
OMIM:614083	BRIP1	83990	HP:0001999	Abnormal facial shape
OMIM:614083	BRIP1	83990	HP:0000054	Micropenis
OMIM:614083	BRIP1	83990	HP:0000089	Renal hypoplasia
OMIM:614083	BRIP1	83990	HP:0008551	Microtia
OMIM:614083	BRIP1	83990	HP:0000238	Hydrocephalus
OMIM:614083	BRIP1	83990	HP:0000007	Autosomal recessive inheritance
OMIM:614083	BRIP1	83990	HP:0000470	Short neck
OMIM:614083	ERCC4	2072	HP:0001903	Anemia
OMIM:614083	ERCC4	2072	HP:0000957	Cafe-au-lait spot
OMIM:614083	ERCC4	2072	HP:0003220	Abnormality of chromosome stability
OMIM:614083	ERCC4	2072	HP:0000568	Microphthalmia
OMIM:614083	ERCC4	2072	HP:0005528	Bone marrow hypocellularity
OMIM:614083	ERCC4	2072	HP:0009777	Absent thumb
OMIM:614083	ERCC4	2072	HP:0001511	Intrauterine growth retardation
OMIM:614083	ERCC4	2072	HP:0000175	Cleft palate
OMIM:614083	ERCC4	2072	HP:0000316	Hypertelorism
OMIM:614083	ERCC4	2072	HP:0000431	Wide nasal bridge
OMIM:614083	ERCC4	2072	HP:0002575	Tracheoesophageal fistula
OMIM:614083	ERCC4	2072	HP:0005280	Depressed nasal bridge
OMIM:614083	ERCC4	2072	HP:0002032	Esophageal atresia
OMIM:614083	ERCC4	2072	HP:0002023	Anal atresia
OMIM:614083	ERCC4	2072	HP:0001263	Global developmental delay
OMIM:614083	ERCC4	2072	HP:0001999	Abnormal facial shape
OMIM:614083	ERCC4	2072	HP:0000054	Micropenis
OMIM:614083	ERCC4	2072	HP:0000089	Renal hypoplasia
OMIM:614083	ERCC4	2072	HP:0008551	Microtia
OMIM:614083	ERCC4	2072	HP:0000238	Hydrocephalus
OMIM:614083	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:614083	ERCC4	2072	HP:0000470	Short neck
OMIM:614083	FANCA	2175	HP:0001903	Anemia
OMIM:614083	FANCA	2175	HP:0000957	Cafe-au-lait spot
OMIM:614083	FANCA	2175	HP:0003220	Abnormality of chromosome stability
OMIM:614083	FANCA	2175	HP:0000568	Microphthalmia
OMIM:614083	FANCA	2175	HP:0005528	Bone marrow hypocellularity
OMIM:614083	FANCA	2175	HP:0009777	Absent thumb
OMIM:614083	FANCA	2175	HP:0001511	Intrauterine growth retardation
OMIM:614083	FANCA	2175	HP:0000175	Cleft palate
OMIM:614083	FANCA	2175	HP:0000316	Hypertelorism
OMIM:614083	FANCA	2175	HP:0000431	Wide nasal bridge
OMIM:614083	FANCA	2175	HP:0002575	Tracheoesophageal fistula
OMIM:614083	FANCA	2175	HP:0005280	Depressed nasal bridge
OMIM:614083	FANCA	2175	HP:0002032	Esophageal atresia
OMIM:614083	FANCA	2175	HP:0002023	Anal atresia
OMIM:614083	FANCA	2175	HP:0001263	Global developmental delay
OMIM:614083	FANCA	2175	HP:0001999	Abnormal facial shape
OMIM:614083	FANCA	2175	HP:0000054	Micropenis
OMIM:614083	FANCA	2175	HP:0000089	Renal hypoplasia
OMIM:614083	FANCA	2175	HP:0008551	Microtia
OMIM:614083	FANCA	2175	HP:0000238	Hydrocephalus
OMIM:614083	FANCA	2175	HP:0000007	Autosomal recessive inheritance
OMIM:614083	FANCA	2175	HP:0000470	Short neck
OMIM:614621	UVSSA	57654	HP:0000007	Autosomal recessive inheritance
OMIM:614621	UVSSA	57654	HP:0001480	Freckling
OMIM:614621	UVSSA	57654	HP:0000992	Cutaneous photosensitivity
OMIM:614621	UVSSA	57654	HP:0003593	Infantile onset
OMIM:614621	ERCC8	1161	HP:0000007	Autosomal recessive inheritance
OMIM:614621	ERCC8	1161	HP:0001480	Freckling
OMIM:614621	ERCC8	1161	HP:0000992	Cutaneous photosensitivity
OMIM:614621	ERCC8	1161	HP:0003593	Infantile onset
OMIM:614621	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:614621	ERCC6	2074	HP:0001480	Freckling
OMIM:614621	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:614621	ERCC6	2074	HP:0003593	Infantile onset
OMIM:137440	PRNP	5621	HP:0000726	Dementia
OMIM:137440	PRNP	5621	HP:0002070	Limb ataxia
OMIM:137440	PRNP	5621	HP:0001824	Weight loss
OMIM:137440	PRNP	5621	HP:0001300	Parkinsonism
OMIM:137440	PRNP	5621	HP:0003812	Phenotypic variability
OMIM:137440	PRNP	5621	HP:0007340	Lower limb muscle weakness
OMIM:137440	PRNP	5621	HP:0001284	Areflexia
OMIM:137440	PRNP	5621	HP:0007772	Impaired smooth pursuit
OMIM:137440	PRNP	5621	HP:0001272	Cerebellar atrophy
OMIM:137440	PRNP	5621	HP:0001257	Spasticity
OMIM:137440	PRNP	5621	HP:0002066	Gait ataxia
OMIM:137440	PRNP	5621	HP:0002354	Memory impairment
OMIM:137440	PRNP	5621	HP:0002186	Apraxia
OMIM:137440	PRNP	5621	HP:0002067	Bradykinesia
OMIM:137440	PRNP	5621	HP:0002063	Rigidity
OMIM:137440	PRNP	5621	HP:0000716	Depression
OMIM:137440	PRNP	5621	HP:0001347	Hyperreflexia
OMIM:137440	PRNP	5621	HP:0003581	Adult onset
OMIM:137440	PRNP	5621	HP:0000709	Psychosis
OMIM:137440	PRNP	5621	HP:0000712	Emotional lability
OMIM:137440	PRNP	5621	HP:0001337	Tremor
OMIM:137440	PRNP	5621	HP:0000718	Aggressive behavior
OMIM:137440	PRNP	5621	HP:0001260	Dysarthria
OMIM:137440	PRNP	5621	HP:0000006	Autosomal dominant inheritance
OMIM:137440	PRNP	5621	HP:0001336	Myoclonus
OMIM:137440	PRNP	5621	HP:0003678	Rapidly progressive
OMIM:137440	PRNP	5621	HP:0002078	Truncal ataxia
OMIM:168400	TRPV4	59341	HP:0000470	Short neck
OMIM:168400	TRPV4	59341	HP:0000348	High forehead
OMIM:168400	TRPV4	59341	HP:0002808	Kyphosis
OMIM:168400	TRPV4	59341	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:168400	TRPV4	59341	HP:0002857	Genu valgum
OMIM:168400	TRPV4	59341	HP:0002650	Scoliosis
OMIM:168400	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:168400	TRPV4	59341	HP:0001371	Flexion contracture
OMIM:168400	TRPV4	59341	HP:0100569	Abnormal vertebral ossification
OMIM:168400	TRPV4	59341	HP:0000926	Platyspondyly
OMIM:168400	TRPV4	59341	HP:0004349	Reduced bone mineral density
OMIM:168400	TRPV4	59341	HP:0000944	Abnormality of the metaphyses
OMIM:168400	TRPV4	59341	HP:0001288	Gait disturbance
OMIM:168400	TRPV4	59341	HP:0001831	Short toe
OMIM:168400	TRPV4	59341	HP:0005930	Abnormality of epiphysis morphology
OMIM:168400	TRPV4	59341	HP:0002970	Genu varum
OMIM:168400	TRPV4	59341	HP:0002007	Frontal bossing
OMIM:168400	TRPV4	59341	HP:0003510	Severe short stature
OMIM:168400	TRPV4	59341	HP:0001156	Brachydactyly syndrome
OMIM:168400	TRPV4	59341	HP:0001376	Limitation of joint mobility
OMIM:168400	TRPV4	59341	HP:0000772	Abnormality of the ribs
OMIM:168400	TRPV4	59341	HP:0000768	Pectus carinatum
OMIM:609376	CRYAA	1409	HP:0000007	Autosomal recessive inheritance
OMIM:609376	CRYAA	1409	HP:0000518	Cataract
OMIM:609376	CRYBA2	1412	HP:0000007	Autosomal recessive inheritance
OMIM:609376	CRYBA2	1412	HP:0000518	Cataract
OMIM:609376	CRYBB1	1414	HP:0000007	Autosomal recessive inheritance
OMIM:609376	CRYBB1	1414	HP:0000518	Cataract
OMIM:609376	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:609376	AGK	55750	HP:0000518	Cataract
OMIM:609376	CRYBB2	1415	HP:0000007	Autosomal recessive inheritance
OMIM:609376	CRYBB2	1415	HP:0000518	Cataract
OMIM:609376	CRYBB3	1417	HP:0000007	Autosomal recessive inheritance
OMIM:609376	CRYBB3	1417	HP:0000518	Cataract
OMIM:609376	WFS1	7466	HP:0000007	Autosomal recessive inheritance
OMIM:609376	WFS1	7466	HP:0000518	Cataract
OMIM:609376	NHS	4810	HP:0000007	Autosomal recessive inheritance
OMIM:609376	NHS	4810	HP:0000518	Cataract
OMIM:609376	GJA3	2700	HP:0000007	Autosomal recessive inheritance
OMIM:609376	GJA3	2700	HP:0000518	Cataract
OMIM:609376	UNC45B	146862	HP:0000007	Autosomal recessive inheritance
OMIM:609376	UNC45B	146862	HP:0000518	Cataract
OMIM:609376	CRYGD	1421	HP:0000007	Autosomal recessive inheritance
OMIM:609376	CRYGD	1421	HP:0000518	Cataract
OMIM:609376	FYCO1	79443	HP:0000007	Autosomal recessive inheritance
OMIM:609376	FYCO1	79443	HP:0000518	Cataract
OMIM:609376	BFSP1	631	HP:0000007	Autosomal recessive inheritance
OMIM:609376	BFSP1	631	HP:0000518	Cataract
OMIM:609376	GCNT2	2651	HP:0000007	Autosomal recessive inheritance
OMIM:609376	GCNT2	2651	HP:0000518	Cataract
OMIM:609376	MIP	4284	HP:0000007	Autosomal recessive inheritance
OMIM:609376	MIP	4284	HP:0000518	Cataract
OMIM:611762	NLRP12	91662	HP:0000407	Sensorineural hearing impairment
OMIM:611762	NLRP12	91662	HP:0003326	Myalgia
OMIM:611762	NLRP12	91662	HP:0002829	Arthralgia
OMIM:611762	NLRP12	91662	HP:0000006	Autosomal dominant inheritance
OMIM:611762	NLRP12	91662	HP:0001025	Urticaria
OMIM:611762	NLRP12	91662	HP:0002027	Abdominal pain
OMIM:611762	NLRP12	91662	HP:0011107	Recurrent aphthous stomatitis
OMIM:611762	NLRP12	91662	HP:0002315	Headache
OMIM:114000	COL1A1	1277	HP:0000520	Proptosis
OMIM:114000	COL1A1	1277	HP:0002982	Tibial bowing
OMIM:114000	COL1A1	1277	HP:0002093	Respiratory insufficiency
OMIM:114000	COL1A1	1277	HP:0010702	Increased antibody level in blood
OMIM:114000	COL1A1	1277	HP:0004493	Craniofacial hyperostosis
OMIM:114000	COL1A1	1277	HP:0008872	Feeding difficulties in infancy
OMIM:114000	COL1A1	1277	HP:0002650	Scoliosis
OMIM:114000	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:114000	COL1A1	1277	HP:0001945	Fever
OMIM:114000	COL1A1	1277	HP:0100658	Cellulitis
OMIM:114000	COL1A1	1277	HP:0000708	Behavioral abnormality
OMIM:114000	COL1A1	1277	HP:0001974	Leukocytosis
OMIM:114000	COL1A1	1277	HP:0000324	Facial asymmetry
OMIM:173100	GH1	2688	HP:0003510	Severe short stature
OMIM:173100	GH1	2688	HP:0000824	Growth hormone deficiency
OMIM:173100	GH1	2688	HP:0000006	Autosomal dominant inheritance
OMIM:610600	CYP11B2	1585	HP:0001508	Failure to thrive
OMIM:610600	CYP11B2	1585	HP:0002153	Hyperkalemia
OMIM:610600	CYP11B2	1585	HP:0003623	Neonatal onset
OMIM:610600	CYP11B2	1585	HP:0001510	Growth delay
OMIM:610600	CYP11B2	1585	HP:0001944	Dehydration
OMIM:610600	CYP11B2	1585	HP:0000007	Autosomal recessive inheritance
OMIM:606595	HSPB1	3315	HP:0001761	Pes cavus
OMIM:606595	HSPB1	3315	HP:0002460	Distal muscle weakness
OMIM:606595	HSPB1	3315	HP:0003693	Distal amyotrophy
OMIM:606595	HSPB1	3315	HP:0009027	Foot dorsiflexor weakness
OMIM:606595	HSPB1	3315	HP:0001284	Areflexia
OMIM:606595	HSPB1	3315	HP:0002936	Distal sensory impairment
OMIM:606595	HSPB1	3315	HP:0001178	Ulnar claw
OMIM:606595	HSPB1	3315	HP:0000006	Autosomal dominant inheritance
OMIM:606595	HSPB1	3315	HP:0002380	Fasciculations
OMIM:606595	HSPB1	3315	HP:0001265	Hyporeflexia
OMIM:606595	HSPB1	3315	HP:0003431	Decreased motor nerve conduction velocity
OMIM:606595	HSPB1	3315	HP:0003376	Steppage gait
OMIM:606595	HSPB1	3315	HP:0003394	Muscle cramps
OMIM:614076	DTNBP1	84062	HP:0007663	Reduced visual acuity
OMIM:614076	DTNBP1	84062	HP:0000639	Nystagmus
OMIM:614076	DTNBP1	84062	HP:0000007	Autosomal recessive inheritance
OMIM:614076	DTNBP1	84062	HP:0000505	Visual impairment
OMIM:614076	DTNBP1	84062	HP:0000978	Bruising susceptibility
OMIM:614076	DTNBP1	84062	HP:0001022	Albinism
OMIM:614076	DTNBP1	84062	HP:0003540	Impaired platelet aggregation
OMIM:614076	DTNBP1	84062	HP:0000421	Epistaxis
OMIM:614076	DTNBP1	84062	HP:0001107	Ocular albinism
OMIM:615193	TUBB1	81027	HP:0000006	Autosomal dominant inheritance
OMIM:615193	TUBB1	81027	HP:0011877	Increased mean platelet volume
OMIM:615193	TUBB1	81027	HP:0000421	Epistaxis
OMIM:615193	TUBB1	81027	HP:0001873	Thrombocytopenia
OMIM:615193	ACTN1	87	HP:0000006	Autosomal dominant inheritance
OMIM:615193	ACTN1	87	HP:0011877	Increased mean platelet volume
OMIM:615193	ACTN1	87	HP:0000421	Epistaxis
OMIM:615193	ACTN1	87	HP:0001873	Thrombocytopenia
OMIM:615193	ITGA2B	3674	HP:0000006	Autosomal dominant inheritance
OMIM:615193	ITGA2B	3674	HP:0011877	Increased mean platelet volume
OMIM:615193	ITGA2B	3674	HP:0000421	Epistaxis
OMIM:615193	ITGA2B	3674	HP:0001873	Thrombocytopenia
OMIM:615193	ITGB3	3690	HP:0000006	Autosomal dominant inheritance
OMIM:615193	ITGB3	3690	HP:0011877	Increased mean platelet volume
OMIM:615193	ITGB3	3690	HP:0000421	Epistaxis
OMIM:615193	ITGB3	3690	HP:0001873	Thrombocytopenia
OMIM:120430	PAX6	5080	HP:0000588	Optic nerve coloboma
OMIM:120430	PAX6	5080	HP:0000486	Strabismus
OMIM:120430	PAX6	5080	HP:0000541	Retinal detachment
OMIM:120430	PAX6	5080	HP:0000505	Visual impairment
OMIM:120430	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:120430	PAX6	5080	HP:0000639	Nystagmus
OMIM:120430	PAX6	5080	HP:0000648	Optic atrophy
OMIM:120430	PAX6	5080	HP:0007703	Abnormality of retinal pigmentation
OMIM:120430	PAX6	5080	HP:0000518	Cataract
OMIM:602459	DIAPH1	1729	HP:0000365	Hearing impairment
OMIM:602459	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:602459	CEACAM16	388551	HP:0000365	Hearing impairment
OMIM:602459	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:602459	SLC17A8	246213	HP:0000365	Hearing impairment
OMIM:602459	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:602459	TJP2	9414	HP:0000365	Hearing impairment
OMIM:602459	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:602459	ACTG1	71	HP:0000365	Hearing impairment
OMIM:602459	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:602459	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:602459	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:602459	MIR96	407053	HP:0000365	Hearing impairment
OMIM:602459	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:602459	GJB2	2706	HP:0000365	Hearing impairment
OMIM:602459	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:602459	POU4F3	5459	HP:0000365	Hearing impairment
OMIM:602459	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:602459	GJB3	2707	HP:0000365	Hearing impairment
OMIM:602459	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:602459	MYH9	4627	HP:0000365	Hearing impairment
OMIM:602459	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:602459	CRYM	1428	HP:0000365	Hearing impairment
OMIM:602459	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:602459	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:602459	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:602459	EYA4	2070	HP:0000365	Hearing impairment
OMIM:602459	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:602459	DFNA5	1687	HP:0000365	Hearing impairment
OMIM:602459	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:602459	DIAPH3	81624	HP:0000365	Hearing impairment
OMIM:602459	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:602459	TMC1	117531	HP:0000365	Hearing impairment
OMIM:602459	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:602459	COCH	1690	HP:0000365	Hearing impairment
OMIM:602459	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:602459	OSBPL2	9885	HP:0000365	Hearing impairment
OMIM:602459	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:602459	SIX1	6495	HP:0000365	Hearing impairment
OMIM:602459	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:602459	TECTA	7007	HP:0000365	Hearing impairment
OMIM:602459	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:602459	MYO1A	4640	HP:0000365	Hearing impairment
OMIM:602459	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:602459	MYO1C	4641	HP:0000365	Hearing impairment
OMIM:602459	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:602459	MYO6	4646	HP:0000365	Hearing impairment
OMIM:602459	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:602459	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:602459	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:602459	GRHL2	79977	HP:0000365	Hearing impairment
OMIM:602459	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:602459	DIABLO	56616	HP:0000365	Hearing impairment
OMIM:602459	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:602459	MYH14	79784	HP:0000365	Hearing impairment
OMIM:602459	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:602459	P2RX2	22953	HP:0000365	Hearing impairment
OMIM:602459	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:602459	WFS1	7466	HP:0000365	Hearing impairment
OMIM:602459	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:602459	TNC	3371	HP:0000365	Hearing impairment
OMIM:602459	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:602459	KCNQ4	9132	HP:0000365	Hearing impairment
OMIM:602459	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:602459	HOMER2	9455	HP:0000365	Hearing impairment
OMIM:602459	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:602459	GJB6	10804	HP:0000365	Hearing impairment
OMIM:602459	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:602459	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:602459	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:613573	PVRL4	81607	HP:0002209	Sparse scalp hair
OMIM:613573	PVRL4	81607	HP:0003777	Pili torti
OMIM:613573	PVRL4	81607	HP:0000968	Ectodermal dysplasia
OMIM:613573	PVRL4	81607	HP:0000535	Sparse eyebrow
OMIM:613573	PVRL4	81607	HP:0000653	Sparse eyelashes
OMIM:613573	PVRL4	81607	HP:0006297	Hypoplasia of dental enamel
OMIM:613573	PVRL4	81607	HP:0010554	Cutaneous finger syndactyly
OMIM:613573	PVRL4	81607	HP:0001792	Small nail
OMIM:613382	PTHLH	5744	HP:0004322	Short stature
OMIM:613382	PTHLH	5744	HP:0001156	Brachydactyly syndrome
OMIM:613382	PTHLH	5744	HP:0010049	Short metacarpal
OMIM:613382	PTHLH	5744	HP:0000006	Autosomal dominant inheritance
OMIM:613382	PTHLH	5744	HP:0010743	Short metatarsal
OMIM:613382	PTHLH	5744	HP:0000684	Delayed eruption of teeth
OMIM:613382	HOXD13	3239	HP:0004322	Short stature
OMIM:613382	HOXD13	3239	HP:0001156	Brachydactyly syndrome
OMIM:613382	HOXD13	3239	HP:0010049	Short metacarpal
OMIM:613382	HOXD13	3239	HP:0000006	Autosomal dominant inheritance
OMIM:613382	HOXD13	3239	HP:0010743	Short metatarsal
OMIM:613382	HOXD13	3239	HP:0000684	Delayed eruption of teeth
OMIM:602081	FOXP2	93986	HP:0002134	Abnormality of the basal ganglia
OMIM:602081	FOXP2	93986	HP:0000006	Autosomal dominant inheritance
OMIM:602081	FOXP2	93986	HP:0000750	Delayed speech and language development
OMIM:602081	FOXP2	93986	HP:0002546	Incomprehensible speech
OMIM:602081	FOXP2	93986	HP:0000271	Abnormality of the face
OMIM:611726	KCTD7	154881	HP:0000252	Microcephaly
OMIM:611726	KCTD7	154881	HP:0003676	Progressive
OMIM:611726	KCTD7	154881	HP:0001249	Intellectual disability
OMIM:611726	KCTD7	154881	HP:0002078	Truncal ataxia
OMIM:611726	KCTD7	154881	HP:0000007	Autosomal recessive inheritance
OMIM:611726	KCTD7	154881	HP:0000572	Visual loss
OMIM:611726	KCTD7	154881	HP:0001272	Cerebellar atrophy
OMIM:611726	KCTD7	154881	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611726	KCTD7	154881	HP:0001260	Dysarthria
OMIM:611726	KCTD7	154881	HP:0002059	Cerebral atrophy
OMIM:611726	KCTD7	154881	HP:0002123	Generalized myoclonic seizures
OMIM:610655	GDF2	2658	HP:0000006	Autosomal dominant inheritance
OMIM:610655	GDF2	2658	HP:0000961	Cyanosis
OMIM:610655	GDF2	2658	HP:0002094	Dyspnea
OMIM:610655	GDF2	2658	HP:0002076	Migraine
OMIM:610655	ENG	2022	HP:0000006	Autosomal dominant inheritance
OMIM:610655	ENG	2022	HP:0000961	Cyanosis
OMIM:610655	ENG	2022	HP:0002094	Dyspnea
OMIM:610655	ENG	2022	HP:0002076	Migraine
OMIM:610655	SMAD4	4089	HP:0000006	Autosomal dominant inheritance
OMIM:610655	SMAD4	4089	HP:0000961	Cyanosis
OMIM:610655	SMAD4	4089	HP:0002094	Dyspnea
OMIM:610655	SMAD4	4089	HP:0002076	Migraine
OMIM:610655	ACVRL1	94	HP:0000006	Autosomal dominant inheritance
OMIM:610655	ACVRL1	94	HP:0000961	Cyanosis
OMIM:610655	ACVRL1	94	HP:0002094	Dyspnea
OMIM:610655	ACVRL1	94	HP:0002076	Migraine
OMIM:613252	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:613252	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:613252	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613252	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:613252	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613252	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:613252	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613252	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:613252	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:613252	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:613252	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613252	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:613252	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:613252	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:613252	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:613252	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:613252	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613252	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:613252	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:613252	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:613252	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:613252	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:613252	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:613252	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:613252	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613252	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:613252	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:613252	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:613252	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:613252	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:613252	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:613252	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:613252	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:613252	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:613252	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:613252	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:613252	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:613252	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:613252	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:614699	CD19	930	HP:0002028	Chronic diarrhea
OMIM:614699	CD19	930	HP:0002721	Immunodeficiency
OMIM:614699	CD19	930	HP:0002205	Recurrent respiratory infections
OMIM:614699	CD19	930	HP:0000007	Autosomal recessive inheritance
OMIM:614699	TNFRSF13C	115650	HP:0002028	Chronic diarrhea
OMIM:614699	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:614699	TNFRSF13C	115650	HP:0002205	Recurrent respiratory infections
OMIM:614699	TNFRSF13C	115650	HP:0000007	Autosomal recessive inheritance
OMIM:614699	MS4A1	931	HP:0002028	Chronic diarrhea
OMIM:614699	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:614699	MS4A1	931	HP:0002205	Recurrent respiratory infections
OMIM:614699	MS4A1	931	HP:0000007	Autosomal recessive inheritance
OMIM:614699	CR2	1380	HP:0002028	Chronic diarrhea
OMIM:614699	CR2	1380	HP:0002721	Immunodeficiency
OMIM:614699	CR2	1380	HP:0002205	Recurrent respiratory infections
OMIM:614699	CR2	1380	HP:0000007	Autosomal recessive inheritance
OMIM:614699	TNFSF12	8742	HP:0002028	Chronic diarrhea
OMIM:614699	TNFSF12	8742	HP:0002721	Immunodeficiency
OMIM:614699	TNFSF12	8742	HP:0002205	Recurrent respiratory infections
OMIM:614699	TNFSF12	8742	HP:0000007	Autosomal recessive inheritance
OMIM:614699	NFKB1	4790	HP:0002028	Chronic diarrhea
OMIM:614699	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:614699	NFKB1	4790	HP:0002205	Recurrent respiratory infections
OMIM:614699	NFKB1	4790	HP:0000007	Autosomal recessive inheritance
OMIM:614699	TNFRSF13B	23495	HP:0002028	Chronic diarrhea
OMIM:614699	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:614699	TNFRSF13B	23495	HP:0002205	Recurrent respiratory infections
OMIM:614699	TNFRSF13B	23495	HP:0000007	Autosomal recessive inheritance
OMIM:614699	NFKB2	4791	HP:0002028	Chronic diarrhea
OMIM:614699	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:614699	NFKB2	4791	HP:0002205	Recurrent respiratory infections
OMIM:614699	NFKB2	4791	HP:0000007	Autosomal recessive inheritance
OMIM:614699	ICOS	29851	HP:0002028	Chronic diarrhea
OMIM:614699	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:614699	ICOS	29851	HP:0002205	Recurrent respiratory infections
OMIM:614699	ICOS	29851	HP:0000007	Autosomal recessive inheritance
OMIM:614699	LRBA	987	HP:0002028	Chronic diarrhea
OMIM:614699	LRBA	987	HP:0002721	Immunodeficiency
OMIM:614699	LRBA	987	HP:0002205	Recurrent respiratory infections
OMIM:614699	LRBA	987	HP:0000007	Autosomal recessive inheritance
OMIM:614699	PRKCD	5580	HP:0002028	Chronic diarrhea
OMIM:614699	PRKCD	5580	HP:0002721	Immunodeficiency
OMIM:614699	PRKCD	5580	HP:0002205	Recurrent respiratory infections
OMIM:614699	PRKCD	5580	HP:0000007	Autosomal recessive inheritance
OMIM:614699	CD81	975	HP:0002028	Chronic diarrhea
OMIM:614699	CD81	975	HP:0002721	Immunodeficiency
OMIM:614699	CD81	975	HP:0002205	Recurrent respiratory infections
OMIM:614699	CD81	975	HP:0000007	Autosomal recessive inheritance
OMIM:216340	FIG4	9896	HP:0000322	Short philtrum
OMIM:216340	FIG4	9896	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:216340	FIG4	9896	HP:0001638	Cardiomyopathy
OMIM:216340	FIG4	9896	HP:0000463	Anteverted nares
OMIM:216340	FIG4	9896	HP:0000347	Micrognathia
OMIM:216340	FIG4	9896	HP:0000368	Low-set, posteriorly rotated ears
OMIM:216340	FIG4	9896	HP:0000233	Thin vermilion border
OMIM:216340	FIG4	9896	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:216340	FIG4	9896	HP:0000272	Malar flattening
OMIM:216340	FIG4	9896	HP:0000535	Sparse eyebrow
OMIM:216340	FIG4	9896	HP:0004331	Decreased skull ossification
OMIM:216340	FIG4	9896	HP:0000369	Low-set ears
OMIM:216340	FIG4	9896	HP:0001636	Tetralogy of Fallot
OMIM:216340	FIG4	9896	HP:0000518	Cataract
OMIM:216340	FIG4	9896	HP:0002757	Recurrent fractures
OMIM:216340	FIG4	9896	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:216340	FIG4	9896	HP:0000766	Abnormality of the sternum
OMIM:216340	FIG4	9896	HP:0001274	Agenesis of corpus callosum
OMIM:216340	FIG4	9896	HP:0002827	Hip dislocation
OMIM:216340	FIG4	9896	HP:0001639	Hypertrophic cardiomyopathy
OMIM:216340	FIG4	9896	HP:0001770	Toe syndactyly
OMIM:216340	FIG4	9896	HP:0000520	Proptosis
OMIM:216340	FIG4	9896	HP:0001622	Premature birth
OMIM:216340	FIG4	9896	HP:0007759	Opacification of the corneal stroma
OMIM:216340	FIG4	9896	HP:0000252	Microcephaly
OMIM:216340	FIG4	9896	HP:0009738	Abnormality of the antihelix
OMIM:216340	FIG4	9896	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:216340	FIG4	9896	HP:0000028	Cryptorchidism
OMIM:216340	FIG4	9896	HP:0000365	Hearing impairment
OMIM:216340	FIG4	9896	HP:0000239	Large fontanelles
OMIM:216340	FIG4	9896	HP:0100543	Cognitive impairment
OMIM:216340	FIG4	9896	HP:0008362	Aplasia/Hypoplasia of the hallux
OMIM:216340	FIG4	9896	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:216340	FIG4	9896	HP:0001302	Pachygyria
OMIM:216340	FIG4	9896	HP:0000582	Upslanted palpebral fissure
OMIM:216340	FIG4	9896	HP:0000894	Short clavicles
OMIM:216340	FIG4	9896	HP:0001629	Ventricular septal defect
OMIM:216340	FIG4	9896	HP:0002652	Skeletal dysplasia
OMIM:216340	FIG4	9896	HP:0000464	Abnormality of the neck
OMIM:216340	FIG4	9896	HP:0001156	Brachydactyly syndrome
OMIM:216340	FIG4	9896	HP:0000174	Abnormality of the palate
OMIM:216340	FIG4	9896	HP:0011362	Abnormal hair quantity
OMIM:216340	FIG4	9896	HP:0000782	Abnormality of the scapula
OMIM:216340	FIG4	9896	HP:0001789	Hydrops fetalis
OMIM:216340	FIG4	9896	HP:0001798	Anonychia
OMIM:216340	FIG4	9896	HP:0010624	Aplastic/hypoplastic toenail
OMIM:216340	FIG4	9896	HP:0000647	Sclerocornea
OMIM:216340	FIG4	9896	HP:0000499	Abnormality of the eyelashes
OMIM:216340	FIG4	9896	HP:0001511	Intrauterine growth retardation
OMIM:216340	FIG4	9896	HP:0002692	Hypoplastic facial bones
OMIM:216340	FIG4	9896	HP:0000007	Autosomal recessive inheritance
OMIM:216340	FIG4	9896	HP:0000958	Dry skin
OMIM:216340	FIG4	9896	HP:0001276	Hypertonia
OMIM:216340	FIG4	9896	HP:0000889	Abnormality of the clavicle
OMIM:216340	FIG4	9896	HP:0011344	Severe global developmental delay
OMIM:216340	FIG4	9896	HP:0001252	Muscular hypotonia
OMIM:216340	FIG4	9896	HP:0002269	Abnormality of neuronal migration
OMIM:216340	FIG4	9896	HP:0000162	Glossoptosis
OMIM:216340	FIG4	9896	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
OMIM:216340	FIG4	9896	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:216340	FIG4	9896	HP:0001321	Cerebellar hypoplasia
OMIM:216340	FIG4	9896	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:216340	FIG4	9896	HP:0001831	Short toe
OMIM:216340	FIG4	9896	HP:0000954	Single transverse palmar crease
OMIM:216340	FIG4	9896	HP:0000268	Dolichocephaly
OMIM:216340	FIG4	9896	HP:0001182	Tapered finger
OMIM:216340	FIG4	9896	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:216340	FIG4	9896	HP:0000054	Micropenis
OMIM:216340	FIG4	9896	HP:0002119	Ventriculomegaly
OMIM:216340	FIG4	9896	HP:0002209	Sparse scalp hair
OMIM:216340	FIG4	9896	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
OMIM:216340	FIG4	9896	HP:0000973	Cutis laxa
OMIM:216340	FIG4	9896	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:216340	FIG4	9896	HP:0002120	Cerebral cortical atrophy
OMIM:216340	FIG4	9896	HP:0003272	Abnormality of the hip bone
OMIM:216340	FIG4	9896	HP:0004322	Short stature
OMIM:216340	FIG4	9896	HP:0008736	Hypoplasia of penis
OMIM:216340	FIG4	9896	HP:0003043	Abnormality of the shoulder
OMIM:216340	FIG4	9896	HP:0000639	Nystagmus
OMIM:216340	FIG4	9896	HP:0000316	Hypertelorism
OMIM:216340	FIG4	9896	HP:0002021	Pyloric stenosis
OMIM:216340	FIG4	9896	HP:0000581	Blepharophimosis
OMIM:216340	FIG4	9896	HP:0000047	Hypospadias
OMIM:216340	FIG4	9896	HP:0000286	Epicanthus
OMIM:216340	FIG4	9896	HP:0001561	Polyhydramnios
OMIM:216340	FIG4	9896	HP:0009777	Absent thumb
OMIM:216340	FIG4	9896	HP:0009882	Short distal phalanx of finger
OMIM:216340	FIG4	9896	HP:0000653	Sparse eyelashes
OMIM:216340	FIG4	9896	HP:0001360	Holoprosencephaly
OMIM:216340	FIG4	9896	HP:0008386	Aplasia/Hypoplasia of the nails
OMIM:216340	FIG4	9896	HP:0000488	Retinopathy
OMIM:241500	ALPL	249	HP:0001903	Anemia
OMIM:241500	ALPL	249	HP:0001522	Death in infancy
OMIM:241500	ALPL	249	HP:0003021	Metaphyseal cupping
OMIM:241500	ALPL	249	HP:0000007	Autosomal recessive inheritance
OMIM:241500	ALPL	249	HP:0001252	Muscular hypotonia
OMIM:241500	ALPL	249	HP:0008873	Disproportionate short-limb short stature
OMIM:241500	ALPL	249	HP:0000926	Platyspondyly
OMIM:241500	ALPL	249	HP:0002104	Apnea
OMIM:241500	ALPL	249	HP:0002983	Micromelia
OMIM:241500	ALPL	249	HP:0000164	Abnormality of the teeth
OMIM:241500	ALPL	249	HP:0002979	Bowing of the legs
OMIM:241500	ALPL	249	HP:0001508	Failure to thrive
OMIM:241500	ALPL	249	HP:0001561	Polyhydramnios
OMIM:241500	ALPL	249	HP:0003072	Hypercalcemia
OMIM:241500	ALPL	249	HP:0000592	Blue sclerae
OMIM:241500	ALPL	249	HP:0008428	Vertebral clefting
OMIM:241500	ALPL	249	HP:0001608	Abnormality of the voice
OMIM:241500	ALPL	249	HP:0002039	Anorexia
OMIM:241500	ALPL	249	HP:0000773	Short ribs
OMIM:241500	ALPL	249	HP:0004606	Unossified vertebral bodies
OMIM:241500	ALPL	249	HP:0002150	Hypercalciuria
OMIM:241500	ALPL	249	HP:0002170	Intracranial hemorrhage
OMIM:241500	ALPL	249	HP:0001945	Fever
OMIM:241500	ALPL	249	HP:0002205	Recurrent respiratory infections
OMIM:241500	ALPL	249	HP:0000737	Irritability
OMIM:241500	ALPL	249	HP:0001363	Craniosynostosis
OMIM:241500	ALPL	249	HP:0003826	Stillbirth
OMIM:241500	ALPL	249	HP:0002019	Constipation
OMIM:241500	ALPL	249	HP:0002013	Vomiting
OMIM:241500	ALPL	249	HP:0002659	Increased susceptibility to fractures
OMIM:241500	ALPL	249	HP:0006385	Short lower limbs
OMIM:241500	ALPL	249	HP:0001250	Seizures
OMIM:241500	ALPL	249	HP:0000121	Nephrocalcinosis
OMIM:241500	ALPL	249	HP:0004492	Widely patent fontanelles and sutures
OMIM:145650	THRB	7068	HP:0000006	Autosomal dominant inheritance
OMIM:145650	THRB	7068	HP:0000836	Hyperthyroidism
OMIM:613559	C12ORF65	91574	HP:0002490	Increased CSF lactate
OMIM:613559	C12ORF65	91574	HP:0000602	Ophthalmoplegia
OMIM:613559	C12ORF65	91574	HP:0001263	Global developmental delay
OMIM:613559	C12ORF65	91574	HP:0002151	Increased serum lactate
OMIM:613559	C12ORF65	91574	HP:0000007	Autosomal recessive inheritance
OMIM:613559	C12ORF65	91574	HP:0002936	Distal sensory impairment
OMIM:613559	C12ORF65	91574	HP:0003676	Progressive
OMIM:613559	C12ORF65	91574	HP:0002376	Developmental regression
OMIM:613559	C12ORF65	91574	HP:0001284	Areflexia
OMIM:613559	C12ORF65	91574	HP:0001252	Muscular hypotonia
OMIM:613559	C12ORF65	91574	HP:0000639	Nystagmus
OMIM:613559	C12ORF65	91574	HP:0001251	Ataxia
OMIM:613559	C12ORF65	91574	HP:0000508	Ptosis
OMIM:613559	C12ORF65	91574	HP:0001260	Dysarthria
OMIM:613559	C12ORF65	91574	HP:0003202	Skeletal muscle atrophy
OMIM:613559	C12ORF65	91574	HP:0000648	Optic atrophy
OMIM:613559	C12ORF65	91574	HP:0001508	Failure to thrive
OMIM:613559	C12ORF65	91574	HP:0000505	Visual impairment
OMIM:615085	CLCN7	1186	HP:0000007	Autosomal recessive inheritance
OMIM:615085	CLCN7	1186	HP:0000256	Macrocephaly
OMIM:615085	CLCN7	1186	HP:0011968	Feeding difficulties
OMIM:615085	CLCN7	1186	HP:0000648	Optic atrophy
OMIM:615085	CLCN7	1186	HP:0001508	Failure to thrive
OMIM:615085	CLCN7	1186	HP:0010628	Facial palsy
OMIM:615085	CLCN7	1186	HP:0001903	Anemia
OMIM:615085	CLCN7	1186	HP:0002007	Frontal bossing
OMIM:615085	CLCN7	1186	HP:0001744	Splenomegaly
OMIM:615085	CLCN7	1186	HP:0001873	Thrombocytopenia
OMIM:615085	CLCN7	1186	HP:0002240	Hepatomegaly
OMIM:615085	TCIRG1	10312	HP:0000007	Autosomal recessive inheritance
OMIM:615085	TCIRG1	10312	HP:0000256	Macrocephaly
OMIM:615085	TCIRG1	10312	HP:0011968	Feeding difficulties
OMIM:615085	TCIRG1	10312	HP:0000648	Optic atrophy
OMIM:615085	TCIRG1	10312	HP:0001508	Failure to thrive
OMIM:615085	TCIRG1	10312	HP:0010628	Facial palsy
OMIM:615085	TCIRG1	10312	HP:0001903	Anemia
OMIM:615085	TCIRG1	10312	HP:0002007	Frontal bossing
OMIM:615085	TCIRG1	10312	HP:0001744	Splenomegaly
OMIM:615085	TCIRG1	10312	HP:0001873	Thrombocytopenia
OMIM:615085	TCIRG1	10312	HP:0002240	Hepatomegaly
OMIM:615085	TNFSF11	8600	HP:0000007	Autosomal recessive inheritance
OMIM:615085	TNFSF11	8600	HP:0000256	Macrocephaly
OMIM:615085	TNFSF11	8600	HP:0011968	Feeding difficulties
OMIM:615085	TNFSF11	8600	HP:0000648	Optic atrophy
OMIM:615085	TNFSF11	8600	HP:0001508	Failure to thrive
OMIM:615085	TNFSF11	8600	HP:0010628	Facial palsy
OMIM:615085	TNFSF11	8600	HP:0001903	Anemia
OMIM:615085	TNFSF11	8600	HP:0002007	Frontal bossing
OMIM:615085	TNFSF11	8600	HP:0001744	Splenomegaly
OMIM:615085	TNFSF11	8600	HP:0001873	Thrombocytopenia
OMIM:615085	TNFSF11	8600	HP:0002240	Hepatomegaly
OMIM:615085	SNX10	29887	HP:0000007	Autosomal recessive inheritance
OMIM:615085	SNX10	29887	HP:0000256	Macrocephaly
OMIM:615085	SNX10	29887	HP:0011968	Feeding difficulties
OMIM:615085	SNX10	29887	HP:0000648	Optic atrophy
OMIM:615085	SNX10	29887	HP:0001508	Failure to thrive
OMIM:615085	SNX10	29887	HP:0010628	Facial palsy
OMIM:615085	SNX10	29887	HP:0001903	Anemia
OMIM:615085	SNX10	29887	HP:0002007	Frontal bossing
OMIM:615085	SNX10	29887	HP:0001744	Splenomegaly
OMIM:615085	SNX10	29887	HP:0001873	Thrombocytopenia
OMIM:615085	SNX10	29887	HP:0002240	Hepatomegaly
OMIM:194190	LETM1	3954	HP:0000377	Abnormality of the pinna
OMIM:194190	LETM1	3954	HP:0000668	Hypodontia
OMIM:194190	LETM1	3954	HP:0009778	Short thumb
OMIM:194190	LETM1	3954	HP:0001631	Atria septal defect
OMIM:194190	LETM1	3954	HP:0002650	Scoliosis
OMIM:194190	LETM1	3954	HP:0009890	High anterior hairline
OMIM:194190	LETM1	3954	HP:0010109	Short hallux
OMIM:194190	LETM1	3954	HP:0001841	Preaxial foot polydactyly
OMIM:194190	LETM1	3954	HP:0000252	Microcephaly
OMIM:194190	LETM1	3954	HP:0000488	Retinopathy
OMIM:194190	LETM1	3954	HP:0000322	Short philtrum
OMIM:194190	LETM1	3954	HP:0004349	Reduced bone mineral density
OMIM:194190	LETM1	3954	HP:0000175	Cleft palate
OMIM:194190	LETM1	3954	HP:0001250	Seizures
OMIM:194190	LETM1	3954	HP:0000648	Optic atrophy
OMIM:194190	LETM1	3954	HP:0000612	Iris coloboma
OMIM:194190	LETM1	3954	HP:0000238	Hydrocephalus
OMIM:194190	LETM1	3954	HP:0003363	Abdominal situs inversus
OMIM:194190	LETM1	3954	HP:0001629	Ventricular septal defect
OMIM:194190	LETM1	3954	HP:0001654	Abnormality of the heart valves
OMIM:194190	LETM1	3954	HP:0002808	Kyphosis
OMIM:194190	LETM1	3954	HP:0002162	Low posterior hairline
OMIM:194190	LETM1	3954	HP:0000494	Downslanted palpebral fissures
OMIM:194190	LETM1	3954	HP:0000077	Abnormality of the kidney
OMIM:194190	LETM1	3954	HP:0000444	Convex nasal ridge
OMIM:194190	LETM1	3954	HP:0002750	Delayed skeletal maturation
OMIM:194190	LETM1	3954	HP:0001166	Arachnodactyly
OMIM:194190	LETM1	3954	HP:0000316	Hypertelorism
OMIM:194190	LETM1	3954	HP:0001177	Preaxial hand polydactyly
OMIM:194190	LETM1	3954	HP:0000384	Preauricular skin tag
OMIM:194190	LETM1	3954	HP:0000368	Low-set, posteriorly rotated ears
OMIM:194190	LETM1	3954	HP:0000006	Autosomal dominant inheritance
OMIM:194190	LETM1	3954	HP:0001762	Talipes equinovarus
OMIM:194190	LETM1	3954	HP:0000776	Congenital diaphragmatic hernia
OMIM:194190	LETM1	3954	HP:0002007	Frontal bossing
OMIM:194190	LETM1	3954	HP:0002714	Downturned corners of mouth
OMIM:194190	LETM1	3954	HP:0000388	Otitis media
OMIM:194190	LETM1	3954	HP:0000431	Wide nasal bridge
OMIM:194190	LETM1	3954	HP:0002353	EEG abnormality
OMIM:194190	LETM1	3954	HP:0002553	Highly arched eyebrow
OMIM:194190	LETM1	3954	HP:0001558	Decreased fetal movement
OMIM:194190	LETM1	3954	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:194190	LETM1	3954	HP:0001508	Failure to thrive
OMIM:194190	LETM1	3954	HP:0002311	Incoordination
OMIM:194190	LETM1	3954	HP:0002974	Radioulnar synostosis
OMIM:194190	LETM1	3954	HP:0000508	Ptosis
OMIM:194190	LETM1	3954	HP:0002205	Recurrent respiratory infections
OMIM:194190	LETM1	3954	HP:0000639	Nystagmus
OMIM:194190	LETM1	3954	HP:0002827	Hip dislocation
OMIM:194190	LETM1	3954	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:194190	LETM1	3954	HP:0002119	Ventriculomegaly
OMIM:194190	LETM1	3954	HP:0002721	Immunodeficiency
OMIM:194190	LETM1	3954	HP:0005264	Abnormality of the gallbladder
OMIM:194190	LETM1	3954	HP:0003745	Sporadic
OMIM:194190	LETM1	3954	HP:0000402	Stenosis of the external auditory canal
OMIM:194190	LETM1	3954	HP:0000520	Proptosis
OMIM:194190	LETM1	3954	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194190	LETM1	3954	HP:0000268	Dolichocephaly
OMIM:194190	LETM1	3954	HP:0000733	Stereotypic behavior
OMIM:194190	LETM1	3954	HP:0000348	High forehead
OMIM:194190	LETM1	3954	HP:0001511	Intrauterine growth retardation
OMIM:194190	LETM1	3954	HP:0100543	Cognitive impairment
OMIM:194190	LETM1	3954	HP:0004467	Preauricular pit
OMIM:194190	LETM1	3954	HP:0000485	Megalocornea
OMIM:194190	LETM1	3954	HP:0001263	Global developmental delay
OMIM:194190	LETM1	3954	HP:0002948	Vertebral fusion
OMIM:194190	LETM1	3954	HP:0000954	Single transverse palmar crease
OMIM:194190	LETM1	3954	HP:0000405	Conductive hearing impairment
OMIM:194190	LETM1	3954	HP:0000047	Hypospadias
OMIM:194190	LETM1	3954	HP:0000465	Webbed neck
OMIM:194190	LETM1	3954	HP:0001274	Agenesis of corpus callosum
OMIM:194190	LETM1	3954	HP:0100022	Abnormality of movement
OMIM:194190	LETM1	3954	HP:0000347	Micrognathia
OMIM:194190	LETM1	3954	HP:0001028	Hemangioma
OMIM:194190	LETM1	3954	HP:0000826	Precocious puberty
OMIM:194190	LETM1	3954	HP:0000960	Sacral dimple
OMIM:194190	LETM1	3954	HP:0000151	Aplasia of the uterus
OMIM:194190	LETM1	3954	HP:0000647	Sclerocornea
OMIM:194190	LETM1	3954	HP:0001290	Generalized hypotonia
OMIM:194190	LETM1	3954	HP:0000286	Epicanthus
OMIM:194190	LETM1	3954	HP:0010864	Intellectual disability, severe
OMIM:194190	LETM1	3954	HP:0001385	Hip dysplasia
OMIM:194190	LETM1	3954	HP:0004322	Short stature
OMIM:194190	LETM1	3954	HP:0000204	Cleft upper lip
OMIM:194190	LETM1	3954	HP:0001080	Biliary tract abnormality
OMIM:194190	LETM1	3954	HP:0007385	Aplasia cutis congenita of scalp
OMIM:194190	LETM1	3954	HP:0001171	Split hand
OMIM:194190	LETM1	3954	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:194190	LETM1	3954	HP:0000028	Cryptorchidism
OMIM:194190	LETM1	3954	HP:0002020	Gastroesophageal reflux
OMIM:194190	LETM1	3954	HP:0001840	Metatarsus adductus
OMIM:194190	LETM1	3954	HP:0001518	Small for gestational age
OMIM:194190	LETM1	3954	HP:0000486	Strabismus
OMIM:194190	LETM1	3954	HP:0000407	Sensorineural hearing impairment
OMIM:194190	WHSC1	7468	HP:0000377	Abnormality of the pinna
OMIM:194190	WHSC1	7468	HP:0000668	Hypodontia
OMIM:194190	WHSC1	7468	HP:0009778	Short thumb
OMIM:194190	WHSC1	7468	HP:0001631	Atria septal defect
OMIM:194190	WHSC1	7468	HP:0002650	Scoliosis
OMIM:194190	WHSC1	7468	HP:0009890	High anterior hairline
OMIM:194190	WHSC1	7468	HP:0010109	Short hallux
OMIM:194190	WHSC1	7468	HP:0001841	Preaxial foot polydactyly
OMIM:194190	WHSC1	7468	HP:0000252	Microcephaly
OMIM:194190	WHSC1	7468	HP:0000488	Retinopathy
OMIM:194190	WHSC1	7468	HP:0000322	Short philtrum
OMIM:194190	WHSC1	7468	HP:0004349	Reduced bone mineral density
OMIM:194190	WHSC1	7468	HP:0000175	Cleft palate
OMIM:194190	WHSC1	7468	HP:0001250	Seizures
OMIM:194190	WHSC1	7468	HP:0000648	Optic atrophy
OMIM:194190	WHSC1	7468	HP:0000612	Iris coloboma
OMIM:194190	WHSC1	7468	HP:0000238	Hydrocephalus
OMIM:194190	WHSC1	7468	HP:0003363	Abdominal situs inversus
OMIM:194190	WHSC1	7468	HP:0001629	Ventricular septal defect
OMIM:194190	WHSC1	7468	HP:0001654	Abnormality of the heart valves
OMIM:194190	WHSC1	7468	HP:0002808	Kyphosis
OMIM:194190	WHSC1	7468	HP:0002162	Low posterior hairline
OMIM:194190	WHSC1	7468	HP:0000494	Downslanted palpebral fissures
OMIM:194190	WHSC1	7468	HP:0000077	Abnormality of the kidney
OMIM:194190	WHSC1	7468	HP:0000444	Convex nasal ridge
OMIM:194190	WHSC1	7468	HP:0002750	Delayed skeletal maturation
OMIM:194190	WHSC1	7468	HP:0001166	Arachnodactyly
OMIM:194190	WHSC1	7468	HP:0000316	Hypertelorism
OMIM:194190	WHSC1	7468	HP:0001177	Preaxial hand polydactyly
OMIM:194190	WHSC1	7468	HP:0000384	Preauricular skin tag
OMIM:194190	WHSC1	7468	HP:0000368	Low-set, posteriorly rotated ears
OMIM:194190	WHSC1	7468	HP:0000006	Autosomal dominant inheritance
OMIM:194190	WHSC1	7468	HP:0001762	Talipes equinovarus
OMIM:194190	WHSC1	7468	HP:0000776	Congenital diaphragmatic hernia
OMIM:194190	WHSC1	7468	HP:0002007	Frontal bossing
OMIM:194190	WHSC1	7468	HP:0002714	Downturned corners of mouth
OMIM:194190	WHSC1	7468	HP:0000388	Otitis media
OMIM:194190	WHSC1	7468	HP:0000431	Wide nasal bridge
OMIM:194190	WHSC1	7468	HP:0002353	EEG abnormality
OMIM:194190	WHSC1	7468	HP:0002553	Highly arched eyebrow
OMIM:194190	WHSC1	7468	HP:0001558	Decreased fetal movement
OMIM:194190	WHSC1	7468	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:194190	WHSC1	7468	HP:0001508	Failure to thrive
OMIM:194190	WHSC1	7468	HP:0002311	Incoordination
OMIM:194190	WHSC1	7468	HP:0002974	Radioulnar synostosis
OMIM:194190	WHSC1	7468	HP:0000508	Ptosis
OMIM:194190	WHSC1	7468	HP:0002205	Recurrent respiratory infections
OMIM:194190	WHSC1	7468	HP:0000639	Nystagmus
OMIM:194190	WHSC1	7468	HP:0002827	Hip dislocation
OMIM:194190	WHSC1	7468	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:194190	WHSC1	7468	HP:0002119	Ventriculomegaly
OMIM:194190	WHSC1	7468	HP:0002721	Immunodeficiency
OMIM:194190	WHSC1	7468	HP:0005264	Abnormality of the gallbladder
OMIM:194190	WHSC1	7468	HP:0003745	Sporadic
OMIM:194190	WHSC1	7468	HP:0000402	Stenosis of the external auditory canal
OMIM:194190	WHSC1	7468	HP:0000520	Proptosis
OMIM:194190	WHSC1	7468	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194190	WHSC1	7468	HP:0000268	Dolichocephaly
OMIM:194190	WHSC1	7468	HP:0000733	Stereotypic behavior
OMIM:194190	WHSC1	7468	HP:0000348	High forehead
OMIM:194190	WHSC1	7468	HP:0001511	Intrauterine growth retardation
OMIM:194190	WHSC1	7468	HP:0100543	Cognitive impairment
OMIM:194190	WHSC1	7468	HP:0004467	Preauricular pit
OMIM:194190	WHSC1	7468	HP:0000485	Megalocornea
OMIM:194190	WHSC1	7468	HP:0001263	Global developmental delay
OMIM:194190	WHSC1	7468	HP:0002948	Vertebral fusion
OMIM:194190	WHSC1	7468	HP:0000954	Single transverse palmar crease
OMIM:194190	WHSC1	7468	HP:0000405	Conductive hearing impairment
OMIM:194190	WHSC1	7468	HP:0000047	Hypospadias
OMIM:194190	WHSC1	7468	HP:0000465	Webbed neck
OMIM:194190	WHSC1	7468	HP:0001274	Agenesis of corpus callosum
OMIM:194190	WHSC1	7468	HP:0100022	Abnormality of movement
OMIM:194190	WHSC1	7468	HP:0000347	Micrognathia
OMIM:194190	WHSC1	7468	HP:0001028	Hemangioma
OMIM:194190	WHSC1	7468	HP:0000826	Precocious puberty
OMIM:194190	WHSC1	7468	HP:0000960	Sacral dimple
OMIM:194190	WHSC1	7468	HP:0000151	Aplasia of the uterus
OMIM:194190	WHSC1	7468	HP:0000647	Sclerocornea
OMIM:194190	WHSC1	7468	HP:0001290	Generalized hypotonia
OMIM:194190	WHSC1	7468	HP:0000286	Epicanthus
OMIM:194190	WHSC1	7468	HP:0010864	Intellectual disability, severe
OMIM:194190	WHSC1	7468	HP:0001385	Hip dysplasia
OMIM:194190	WHSC1	7468	HP:0004322	Short stature
OMIM:194190	WHSC1	7468	HP:0000204	Cleft upper lip
OMIM:194190	WHSC1	7468	HP:0001080	Biliary tract abnormality
OMIM:194190	WHSC1	7468	HP:0007385	Aplasia cutis congenita of scalp
OMIM:194190	WHSC1	7468	HP:0001171	Split hand
OMIM:194190	WHSC1	7468	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:194190	WHSC1	7468	HP:0000028	Cryptorchidism
OMIM:194190	WHSC1	7468	HP:0002020	Gastroesophageal reflux
OMIM:194190	WHSC1	7468	HP:0001840	Metatarsus adductus
OMIM:194190	WHSC1	7468	HP:0001518	Small for gestational age
OMIM:194190	WHSC1	7468	HP:0000486	Strabismus
OMIM:194190	WHSC1	7468	HP:0000407	Sensorineural hearing impairment
OMIM:194190	NELFA	7469	HP:0000377	Abnormality of the pinna
OMIM:194190	NELFA	7469	HP:0000668	Hypodontia
OMIM:194190	NELFA	7469	HP:0009778	Short thumb
OMIM:194190	NELFA	7469	HP:0001631	Atria septal defect
OMIM:194190	NELFA	7469	HP:0002650	Scoliosis
OMIM:194190	NELFA	7469	HP:0009890	High anterior hairline
OMIM:194190	NELFA	7469	HP:0010109	Short hallux
OMIM:194190	NELFA	7469	HP:0001841	Preaxial foot polydactyly
OMIM:194190	NELFA	7469	HP:0000252	Microcephaly
OMIM:194190	NELFA	7469	HP:0000488	Retinopathy
OMIM:194190	NELFA	7469	HP:0000322	Short philtrum
OMIM:194190	NELFA	7469	HP:0004349	Reduced bone mineral density
OMIM:194190	NELFA	7469	HP:0000175	Cleft palate
OMIM:194190	NELFA	7469	HP:0001250	Seizures
OMIM:194190	NELFA	7469	HP:0000648	Optic atrophy
OMIM:194190	NELFA	7469	HP:0000612	Iris coloboma
OMIM:194190	NELFA	7469	HP:0000238	Hydrocephalus
OMIM:194190	NELFA	7469	HP:0003363	Abdominal situs inversus
OMIM:194190	NELFA	7469	HP:0001629	Ventricular septal defect
OMIM:194190	NELFA	7469	HP:0001654	Abnormality of the heart valves
OMIM:194190	NELFA	7469	HP:0002808	Kyphosis
OMIM:194190	NELFA	7469	HP:0002162	Low posterior hairline
OMIM:194190	NELFA	7469	HP:0000494	Downslanted palpebral fissures
OMIM:194190	NELFA	7469	HP:0000077	Abnormality of the kidney
OMIM:194190	NELFA	7469	HP:0000444	Convex nasal ridge
OMIM:194190	NELFA	7469	HP:0002750	Delayed skeletal maturation
OMIM:194190	NELFA	7469	HP:0001166	Arachnodactyly
OMIM:194190	NELFA	7469	HP:0000316	Hypertelorism
OMIM:194190	NELFA	7469	HP:0001177	Preaxial hand polydactyly
OMIM:194190	NELFA	7469	HP:0000384	Preauricular skin tag
OMIM:194190	NELFA	7469	HP:0000368	Low-set, posteriorly rotated ears
OMIM:194190	NELFA	7469	HP:0000006	Autosomal dominant inheritance
OMIM:194190	NELFA	7469	HP:0001762	Talipes equinovarus
OMIM:194190	NELFA	7469	HP:0000776	Congenital diaphragmatic hernia
OMIM:194190	NELFA	7469	HP:0002007	Frontal bossing
OMIM:194190	NELFA	7469	HP:0002714	Downturned corners of mouth
OMIM:194190	NELFA	7469	HP:0000388	Otitis media
OMIM:194190	NELFA	7469	HP:0000431	Wide nasal bridge
OMIM:194190	NELFA	7469	HP:0002353	EEG abnormality
OMIM:194190	NELFA	7469	HP:0002553	Highly arched eyebrow
OMIM:194190	NELFA	7469	HP:0001558	Decreased fetal movement
OMIM:194190	NELFA	7469	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:194190	NELFA	7469	HP:0001508	Failure to thrive
OMIM:194190	NELFA	7469	HP:0002311	Incoordination
OMIM:194190	NELFA	7469	HP:0002974	Radioulnar synostosis
OMIM:194190	NELFA	7469	HP:0000508	Ptosis
OMIM:194190	NELFA	7469	HP:0002205	Recurrent respiratory infections
OMIM:194190	NELFA	7469	HP:0000639	Nystagmus
OMIM:194190	NELFA	7469	HP:0002827	Hip dislocation
OMIM:194190	NELFA	7469	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:194190	NELFA	7469	HP:0002119	Ventriculomegaly
OMIM:194190	NELFA	7469	HP:0002721	Immunodeficiency
OMIM:194190	NELFA	7469	HP:0005264	Abnormality of the gallbladder
OMIM:194190	NELFA	7469	HP:0003745	Sporadic
OMIM:194190	NELFA	7469	HP:0000402	Stenosis of the external auditory canal
OMIM:194190	NELFA	7469	HP:0000520	Proptosis
OMIM:194190	NELFA	7469	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194190	NELFA	7469	HP:0000268	Dolichocephaly
OMIM:194190	NELFA	7469	HP:0000733	Stereotypic behavior
OMIM:194190	NELFA	7469	HP:0000348	High forehead
OMIM:194190	NELFA	7469	HP:0001511	Intrauterine growth retardation
OMIM:194190	NELFA	7469	HP:0100543	Cognitive impairment
OMIM:194190	NELFA	7469	HP:0004467	Preauricular pit
OMIM:194190	NELFA	7469	HP:0000485	Megalocornea
OMIM:194190	NELFA	7469	HP:0001263	Global developmental delay
OMIM:194190	NELFA	7469	HP:0002948	Vertebral fusion
OMIM:194190	NELFA	7469	HP:0000954	Single transverse palmar crease
OMIM:194190	NELFA	7469	HP:0000405	Conductive hearing impairment
OMIM:194190	NELFA	7469	HP:0000047	Hypospadias
OMIM:194190	NELFA	7469	HP:0000465	Webbed neck
OMIM:194190	NELFA	7469	HP:0001274	Agenesis of corpus callosum
OMIM:194190	NELFA	7469	HP:0100022	Abnormality of movement
OMIM:194190	NELFA	7469	HP:0000347	Micrognathia
OMIM:194190	NELFA	7469	HP:0001028	Hemangioma
OMIM:194190	NELFA	7469	HP:0000826	Precocious puberty
OMIM:194190	NELFA	7469	HP:0000960	Sacral dimple
OMIM:194190	NELFA	7469	HP:0000151	Aplasia of the uterus
OMIM:194190	NELFA	7469	HP:0000647	Sclerocornea
OMIM:194190	NELFA	7469	HP:0001290	Generalized hypotonia
OMIM:194190	NELFA	7469	HP:0000286	Epicanthus
OMIM:194190	NELFA	7469	HP:0010864	Intellectual disability, severe
OMIM:194190	NELFA	7469	HP:0001385	Hip dysplasia
OMIM:194190	NELFA	7469	HP:0004322	Short stature
OMIM:194190	NELFA	7469	HP:0000204	Cleft upper lip
OMIM:194190	NELFA	7469	HP:0001080	Biliary tract abnormality
OMIM:194190	NELFA	7469	HP:0007385	Aplasia cutis congenita of scalp
OMIM:194190	NELFA	7469	HP:0001171	Split hand
OMIM:194190	NELFA	7469	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:194190	NELFA	7469	HP:0000028	Cryptorchidism
OMIM:194190	NELFA	7469	HP:0002020	Gastroesophageal reflux
OMIM:194190	NELFA	7469	HP:0001840	Metatarsus adductus
OMIM:194190	NELFA	7469	HP:0001518	Small for gestational age
OMIM:194190	NELFA	7469	HP:0000486	Strabismus
OMIM:194190	NELFA	7469	HP:0000407	Sensorineural hearing impairment
OMIM:614438	PYCR1	5831	HP:0000316	Hypertelorism
OMIM:614438	PYCR1	5831	HP:0000023	Inguinal hernia
OMIM:614438	PYCR1	5831	HP:0001087	Congenital glaucoma
OMIM:614438	PYCR1	5831	HP:0008070	Sparse hair
OMIM:614438	PYCR1	5831	HP:0000750	Delayed speech and language development
OMIM:614438	PYCR1	5831	HP:0011220	Prominent forehead
OMIM:614438	PYCR1	5831	HP:0000239	Large fontanelles
OMIM:614438	PYCR1	5831	HP:0000592	Blue sclerae
OMIM:614438	PYCR1	5831	HP:0000973	Cutis laxa
OMIM:614438	PYCR1	5831	HP:0001249	Intellectual disability
OMIM:614438	PYCR1	5831	HP:0000581	Blepharophimosis
OMIM:614438	PYCR1	5831	HP:0000963	Thin skin
OMIM:614438	PYCR1	5831	HP:0002987	Elbow flexion contracture
OMIM:614438	PYCR1	5831	HP:0000007	Autosomal recessive inheritance
OMIM:614438	PYCR1	5831	HP:0000028	Cryptorchidism
OMIM:614438	PYCR1	5831	HP:0000358	Posteriorly rotated ears
OMIM:614438	PYCR1	5831	HP:0000233	Thin vermilion border
OMIM:614438	PYCR1	5831	HP:0002213	Fine hair
OMIM:613950	SHANK3	85358	HP:0010982	Polygenic inheritance
OMIM:613950	SHANK3	85358	HP:0100753	Schizophrenia
OMIM:615761	SETD5	55209	HP:0000678	Dental crowding
OMIM:615761	SETD5	55209	HP:0000347	Micrognathia
OMIM:615761	SETD5	55209	HP:0002307	Drooling
OMIM:615761	SETD5	55209	HP:0001263	Global developmental delay
OMIM:615761	SETD5	55209	HP:0000750	Delayed speech and language development
OMIM:615761	SETD5	55209	HP:0001249	Intellectual disability
OMIM:615761	SETD5	55209	HP:0002808	Kyphosis
OMIM:615761	SETD5	55209	HP:0000582	Upslanted palpebral fissure
OMIM:615761	SETD5	55209	HP:0000028	Cryptorchidism
OMIM:615761	SETD5	55209	HP:0000722	Obsessive-compulsive behavior
OMIM:615761	SETD5	55209	HP:0000664	Synophrys
OMIM:615761	SETD5	55209	HP:0000047	Hypospadias
OMIM:615761	SETD5	55209	HP:0000248	Brachycephaly
OMIM:615761	SETD5	55209	HP:0003307	Hyperlordosis
OMIM:615761	SETD5	55209	HP:0000219	Thin upper lip vermilion
OMIM:615761	SETD5	55209	HP:0005280	Depressed nasal bridge
OMIM:615761	SETD5	55209	HP:0002650	Scoliosis
OMIM:142900	TBX5	6910	HP:0000912	Sprengel anomaly
OMIM:142900	TBX5	6910	HP:0001643	Patent ductus arteriosus
OMIM:142900	TBX5	6910	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:142900	TBX5	6910	HP:0011675	Arrhythmia
OMIM:142900	TBX5	6910	HP:0000006	Autosomal dominant inheritance
OMIM:142900	TBX5	6910	HP:0002650	Scoliosis
OMIM:142900	TBX5	6910	HP:0004383	Hypoplastic left heart
OMIM:142900	TBX5	6910	HP:0003043	Abnormality of the shoulder
OMIM:142900	TBX5	6910	HP:0003468	Abnormality of the vertebrae
OMIM:142900	TBX5	6910	HP:0000766	Abnormality of the sternum
OMIM:142900	TBX5	6910	HP:0001629	Ventricular septal defect
OMIM:142900	TBX5	6910	HP:0006101	Finger syndactyly
OMIM:142900	TBX5	6910	HP:0002943	Thoracic scoliosis
OMIM:142900	TBX5	6910	HP:0001679	Abnormality of the aorta
OMIM:142900	TBX5	6910	HP:0000767	Pectus excavatum
OMIM:142900	TBX5	6910	HP:0009777	Absent thumb
OMIM:142900	TBX5	6910	HP:0001631	Atria septal defect
OMIM:142900	TBX5	6910	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:142900	TBX5	6910	HP:0002984	Hypoplasia of the radius
OMIM:142900	TBX5	6910	HP:0001191	Abnormality of the carpal bones
OMIM:142900	TBX5	6910	HP:0000772	Abnormality of the ribs
OMIM:142900	TBX5	6910	HP:0002974	Radioulnar synostosis
OMIM:142900	TBX5	6910	HP:0001199	Triphalangeal thumb
OMIM:142900	TBX5	6910	HP:0001163	Abnormality of the metacarpal bones
OMIM:142900	TBX5	6910	HP:0001674	Complete atrioventricular canal defect
OMIM:142900	TBX5	6910	HP:0003063	Abnormality of the humerus
OMIM:142900	TBX5	6910	HP:0003019	Abnormality of the wrist
OMIM:219090	AIP	9049	HP:0004418	Thrombophlebitis
OMIM:219090	AIP	9049	HP:0009124	Abnormality of adipose tissue
OMIM:219090	AIP	9049	HP:0000969	Edema
OMIM:219090	AIP	9049	HP:0000518	Cataract
OMIM:219090	AIP	9049	HP:0000787	Nephrolithiasis
OMIM:219090	AIP	9049	HP:0003198	Myopathy
OMIM:219090	AIP	9049	HP:0002027	Abdominal pain
OMIM:219090	AIP	9049	HP:0001956	Truncal obesity
OMIM:219090	AIP	9049	HP:0000505	Visual impairment
OMIM:219090	AIP	9049	HP:0001575	Mood changes
OMIM:219090	AIP	9049	HP:0002808	Kyphosis
OMIM:219090	AIP	9049	HP:0200042	Skin ulcer
OMIM:219090	AIP	9049	HP:0002076	Migraine
OMIM:219090	AIP	9049	HP:0000311	Round face
OMIM:219090	AIP	9049	HP:0000822	Hypertension
OMIM:219090	AIP	9049	HP:0001065	Striae distensae
OMIM:219090	AIP	9049	HP:0000144	Decreased fertility
OMIM:219090	AIP	9049	HP:0004295	Abnormality of the gastric mucosa
OMIM:219090	AIP	9049	HP:0000963	Thin skin
OMIM:219090	AIP	9049	HP:0001948	Alkalosis
OMIM:219090	AIP	9049	HP:0001639	Hypertrophic cardiomyopathy
OMIM:219090	AIP	9049	HP:0004349	Reduced bone mineral density
OMIM:219090	AIP	9049	HP:0001007	Hirsutism
OMIM:219090	AIP	9049	HP:0000978	Bruising susceptibility
OMIM:219090	AIP	9049	HP:0000979	Purpura
OMIM:219090	AIP	9049	HP:0100585	Telangiectasia of the skin
OMIM:219090	AIP	9049	HP:0002757	Recurrent fractures
OMIM:219090	AIP	9049	HP:0000869	Secondary amenorrhea
OMIM:219090	AIP	9049	HP:0004372	Reduced consciousness/confusion
OMIM:219090	AIP	9049	HP:0007440	Generalized hyperpigmentation
OMIM:219090	AIP	9049	HP:0003154	Increased circulating ACTH level
OMIM:219090	AIP	9049	HP:0000876	Oligomenorrhea
OMIM:219090	AIP	9049	HP:0000939	Osteoporosis
OMIM:219090	AIP	9049	HP:0003202	Skeletal muscle atrophy
OMIM:219090	AIP	9049	HP:0001061	Acne
OMIM:219090	AIP	9049	HP:0000833	Glucose intolerance
OMIM:219090	AIP	9049	HP:0001818	Paronychia
OMIM:219090	AIP	9049	HP:0001578	Hypercortisolism
OMIM:219090	AIP	9049	HP:0000998	Hypertrichosis
OMIM:219090	AIP	9049	HP:0000819	Diabetes mellitus
OMIM:219090	AIP	9049	HP:0002893	Pituitary adenoma
OMIM:219090	AIP	9049	HP:0100568	Neoplasm of the endocrine system
OMIM:219090	AIP	9049	HP:0002360	Sleep disturbance
OMIM:219090	AIP	9049	HP:0100852	Abnormal fear/anxiety-related behavior
OMIM:219090	USP8	9101	HP:0004418	Thrombophlebitis
OMIM:219090	USP8	9101	HP:0009124	Abnormality of adipose tissue
OMIM:219090	USP8	9101	HP:0000969	Edema
OMIM:219090	USP8	9101	HP:0000518	Cataract
OMIM:219090	USP8	9101	HP:0000787	Nephrolithiasis
OMIM:219090	USP8	9101	HP:0003198	Myopathy
OMIM:219090	USP8	9101	HP:0002027	Abdominal pain
OMIM:219090	USP8	9101	HP:0001956	Truncal obesity
OMIM:219090	USP8	9101	HP:0000505	Visual impairment
OMIM:219090	USP8	9101	HP:0001575	Mood changes
OMIM:219090	USP8	9101	HP:0002808	Kyphosis
OMIM:219090	USP8	9101	HP:0200042	Skin ulcer
OMIM:219090	USP8	9101	HP:0002076	Migraine
OMIM:219090	USP8	9101	HP:0000311	Round face
OMIM:219090	USP8	9101	HP:0000822	Hypertension
OMIM:219090	USP8	9101	HP:0001065	Striae distensae
OMIM:219090	USP8	9101	HP:0000144	Decreased fertility
OMIM:219090	USP8	9101	HP:0004295	Abnormality of the gastric mucosa
OMIM:219090	USP8	9101	HP:0000963	Thin skin
OMIM:219090	USP8	9101	HP:0001948	Alkalosis
OMIM:219090	USP8	9101	HP:0001639	Hypertrophic cardiomyopathy
OMIM:219090	USP8	9101	HP:0004349	Reduced bone mineral density
OMIM:219090	USP8	9101	HP:0001007	Hirsutism
OMIM:219090	USP8	9101	HP:0000978	Bruising susceptibility
OMIM:219090	USP8	9101	HP:0000979	Purpura
OMIM:219090	USP8	9101	HP:0100585	Telangiectasia of the skin
OMIM:219090	USP8	9101	HP:0002757	Recurrent fractures
OMIM:219090	USP8	9101	HP:0000869	Secondary amenorrhea
OMIM:219090	USP8	9101	HP:0004372	Reduced consciousness/confusion
OMIM:219090	USP8	9101	HP:0007440	Generalized hyperpigmentation
OMIM:219090	USP8	9101	HP:0003154	Increased circulating ACTH level
OMIM:219090	USP8	9101	HP:0000876	Oligomenorrhea
OMIM:219090	USP8	9101	HP:0000939	Osteoporosis
OMIM:219090	USP8	9101	HP:0003202	Skeletal muscle atrophy
OMIM:219090	USP8	9101	HP:0001061	Acne
OMIM:219090	USP8	9101	HP:0000833	Glucose intolerance
OMIM:219090	USP8	9101	HP:0001818	Paronychia
OMIM:219090	USP8	9101	HP:0001578	Hypercortisolism
OMIM:219090	USP8	9101	HP:0000998	Hypertrichosis
OMIM:219090	USP8	9101	HP:0000819	Diabetes mellitus
OMIM:219090	USP8	9101	HP:0002893	Pituitary adenoma
OMIM:219090	USP8	9101	HP:0100568	Neoplasm of the endocrine system
OMIM:219090	USP8	9101	HP:0002360	Sleep disturbance
OMIM:219090	USP8	9101	HP:0100852	Abnormal fear/anxiety-related behavior
OMIM:615092	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:615092	TPM1	7168	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615092	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:615092	LMNA	4000	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615092	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:615092	MYH7	4625	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615092	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:615092	TNNT2	7139	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615092	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:615092	LDB3	11155	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615092	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:615092	TAZ	6901	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615092	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:615092	ACTC1	70	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615092	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:615092	PRDM16	63976	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615092	MYH7B	57644	HP:0000006	Autosomal dominant inheritance
OMIM:615092	MYH7B	57644	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615092	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:615092	DTNA	1837	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615092	MIB1	57534	HP:0000006	Autosomal dominant inheritance
OMIM:615092	MIB1	57534	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615092	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:615092	MYBPC3	4607	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:609048	CDKN2A	1029	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:609048	CDKN2A	1029	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:609048	CDKN2A	1029	HP:0012056	Cutaneous melanoma
OMIM:609048	CDKN2A	1029	HP:0000006	Autosomal dominant inheritance
OMIM:609048	CDKN2A	1029	HP:0001054	Numerous nevi
OMIM:609048	CDKN2B	1030	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:609048	CDKN2B	1030	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:609048	CDKN2B	1030	HP:0012056	Cutaneous melanoma
OMIM:609048	CDKN2B	1030	HP:0000006	Autosomal dominant inheritance
OMIM:609048	CDKN2B	1030	HP:0001054	Numerous nevi
OMIM:609048	TERT	7015	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:609048	TERT	7015	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:609048	TERT	7015	HP:0012056	Cutaneous melanoma
OMIM:609048	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:609048	TERT	7015	HP:0001054	Numerous nevi
OMIM:609048	CDKN2D	1032	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:609048	CDKN2D	1032	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:609048	CDKN2D	1032	HP:0012056	Cutaneous melanoma
OMIM:609048	CDKN2D	1032	HP:0000006	Autosomal dominant inheritance
OMIM:609048	CDKN2D	1032	HP:0001054	Numerous nevi
OMIM:609048	POT1	25913	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:609048	POT1	25913	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:609048	POT1	25913	HP:0012056	Cutaneous melanoma
OMIM:609048	POT1	25913	HP:0000006	Autosomal dominant inheritance
OMIM:609048	POT1	25913	HP:0001054	Numerous nevi
OMIM:609048	CDK4	1019	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:609048	CDK4	1019	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:609048	CDK4	1019	HP:0012056	Cutaneous melanoma
OMIM:609048	CDK4	1019	HP:0000006	Autosomal dominant inheritance
OMIM:609048	CDK4	1019	HP:0001054	Numerous nevi
OMIM:609048	MC1R	4157	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:609048	MC1R	4157	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:609048	MC1R	4157	HP:0012056	Cutaneous melanoma
OMIM:609048	MC1R	4157	HP:0000006	Autosomal dominant inheritance
OMIM:609048	MC1R	4157	HP:0001054	Numerous nevi
OMIM:262300	RPGR	6103	HP:0000613	Photophobia
OMIM:262300	RPGR	6103	HP:0000518	Cataract
OMIM:262300	RPGR	6103	HP:0007641	Dyschromatopsia
OMIM:262300	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:262300	RPGR	6103	HP:0001141	Severe visual impairment
OMIM:262300	RPGR	6103	HP:0011003	Severe Myopia
OMIM:262300	CNGB3	54714	HP:0000613	Photophobia
OMIM:262300	CNGB3	54714	HP:0000518	Cataract
OMIM:262300	CNGB3	54714	HP:0007641	Dyschromatopsia
OMIM:262300	CNGB3	54714	HP:0000007	Autosomal recessive inheritance
OMIM:262300	CNGB3	54714	HP:0001141	Severe visual impairment
OMIM:262300	CNGB3	54714	HP:0011003	Severe Myopia
OMIM:262300	PDE6C	5146	HP:0000613	Photophobia
OMIM:262300	PDE6C	5146	HP:0000518	Cataract
OMIM:262300	PDE6C	5146	HP:0007641	Dyschromatopsia
OMIM:262300	PDE6C	5146	HP:0000007	Autosomal recessive inheritance
OMIM:262300	PDE6C	5146	HP:0001141	Severe visual impairment
OMIM:262300	PDE6C	5146	HP:0011003	Severe Myopia
OMIM:262300	GNAT2	2780	HP:0000613	Photophobia
OMIM:262300	GNAT2	2780	HP:0000518	Cataract
OMIM:262300	GNAT2	2780	HP:0007641	Dyschromatopsia
OMIM:262300	GNAT2	2780	HP:0000007	Autosomal recessive inheritance
OMIM:262300	GNAT2	2780	HP:0001141	Severe visual impairment
OMIM:262300	GNAT2	2780	HP:0011003	Severe Myopia
OMIM:262300	CNGA3	1261	HP:0000613	Photophobia
OMIM:262300	CNGA3	1261	HP:0000518	Cataract
OMIM:262300	CNGA3	1261	HP:0007641	Dyschromatopsia
OMIM:262300	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:262300	CNGA3	1261	HP:0001141	Severe visual impairment
OMIM:262300	CNGA3	1261	HP:0011003	Severe Myopia
OMIM:262300	PDE6H	5149	HP:0000613	Photophobia
OMIM:262300	PDE6H	5149	HP:0000518	Cataract
OMIM:262300	PDE6H	5149	HP:0007641	Dyschromatopsia
OMIM:262300	PDE6H	5149	HP:0000007	Autosomal recessive inheritance
OMIM:262300	PDE6H	5149	HP:0001141	Severe visual impairment
OMIM:262300	PDE6H	5149	HP:0011003	Severe Myopia
OMIM:262300	ATF6	22926	HP:0000613	Photophobia
OMIM:262300	ATF6	22926	HP:0000518	Cataract
OMIM:262300	ATF6	22926	HP:0007641	Dyschromatopsia
OMIM:262300	ATF6	22926	HP:0000007	Autosomal recessive inheritance
OMIM:262300	ATF6	22926	HP:0001141	Severe visual impairment
OMIM:262300	ATF6	22926	HP:0011003	Severe Myopia
OMIM:616393	EEF1A2	1917	HP:0000369	Low-set ears
OMIM:616393	EEF1A2	1917	HP:0000286	Epicanthus
OMIM:616393	EEF1A2	1917	HP:0000490	Deeply set eye
OMIM:616393	EEF1A2	1917	HP:0000718	Aggressive behavior
OMIM:616393	EEF1A2	1917	HP:0005280	Depressed nasal bridge
OMIM:616393	EEF1A2	1917	HP:0010804	Tented upper lip vermilion
OMIM:616393	EEF1A2	1917	HP:0000232	Everted lower lip vermilion
OMIM:616393	EEF1A2	1917	HP:0001252	Muscular hypotonia
OMIM:616393	EEF1A2	1917	HP:0002714	Downturned corners of mouth
OMIM:616393	EEF1A2	1917	HP:0000494	Downslanted palpebral fissures
OMIM:616393	EEF1A2	1917	HP:0001263	Global developmental delay
OMIM:616393	EEF1A2	1917	HP:0001249	Intellectual disability
OMIM:616393	EEF1A2	1917	HP:0001250	Seizures
OMIM:615617	CD3D	915	HP:0003593	Infantile onset
OMIM:615617	CD3D	915	HP:0000403	Recurrent otitis media
OMIM:615617	CD3D	915	HP:0002205	Recurrent respiratory infections
OMIM:615617	CD3D	915	HP:0001508	Failure to thrive
OMIM:615617	CD3D	915	HP:0002721	Immunodeficiency
OMIM:615617	CD3D	915	HP:0000007	Autosomal recessive inheritance
OMIM:615617	CD3D	915	HP:0002014	Diarrhea
OMIM:615617	CD3E	916	HP:0003593	Infantile onset
OMIM:615617	CD3E	916	HP:0000403	Recurrent otitis media
OMIM:615617	CD3E	916	HP:0002205	Recurrent respiratory infections
OMIM:615617	CD3E	916	HP:0001508	Failure to thrive
OMIM:615617	CD3E	916	HP:0002721	Immunodeficiency
OMIM:615617	CD3E	916	HP:0000007	Autosomal recessive inheritance
OMIM:615617	CD3E	916	HP:0002014	Diarrhea
OMIM:615617	CD247	919	HP:0003593	Infantile onset
OMIM:615617	CD247	919	HP:0000403	Recurrent otitis media
OMIM:615617	CD247	919	HP:0002205	Recurrent respiratory infections
OMIM:615617	CD247	919	HP:0001508	Failure to thrive
OMIM:615617	CD247	919	HP:0002721	Immunodeficiency
OMIM:615617	CD247	919	HP:0000007	Autosomal recessive inheritance
OMIM:615617	CD247	919	HP:0002014	Diarrhea
OMIM:192350	HOXD13	3239	HP:0000772	Abnormality of the ribs
OMIM:192350	HOXD13	3239	HP:0000048	Bifid scrotum
OMIM:192350	HOXD13	3239	HP:0000175	Cleft palate
OMIM:192350	HOXD13	3239	HP:0003974	Absent radius
OMIM:192350	HOXD13	3239	HP:0002777	Tracheal stenosis
OMIM:192350	HOXD13	3239	HP:0002984	Hypoplasia of the radius
OMIM:192350	HOXD13	3239	HP:0000239	Large fontanelles
OMIM:192350	HOXD13	3239	HP:0001671	Abnormality of the cardiac septa
OMIM:192350	HOXD13	3239	HP:0001511	Intrauterine growth retardation
OMIM:192350	HOXD13	3239	HP:0002032	Esophageal atresia
OMIM:192350	HOXD13	3239	HP:0100335	Non-midline cleft lip
OMIM:192350	HOXD13	3239	HP:0008678	Renal hypoplasia/aplasia
OMIM:192350	HOXD13	3239	HP:0003745	Sporadic
OMIM:192350	HOXD13	3239	HP:0000047	Hypospadias
OMIM:192350	HOXD13	3239	HP:0002085	Occipital encephalocele
OMIM:192350	HOXD13	3239	HP:0000766	Abnormality of the sternum
OMIM:192350	HOXD13	3239	HP:0001508	Failure to thrive
OMIM:192350	HOXD13	3239	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:192350	HOXD13	3239	HP:0003422	Vertebral segmentation defect
OMIM:192350	HOXD13	3239	HP:0008897	Postnatal growth retardation
OMIM:192350	HOXD13	3239	HP:0001601	Laryngomalacia
OMIM:192350	HOXD13	3239	HP:0001199	Triphalangeal thumb
OMIM:192350	HOXD13	3239	HP:0006101	Finger syndactyly
OMIM:192350	HOXD13	3239	HP:0000104	Renal agenesis
OMIM:192350	HOXD13	3239	HP:0000028	Cryptorchidism
OMIM:192350	HOXD13	3239	HP:0001669	Transposition of the great arteries
OMIM:192350	HOXD13	3239	HP:0002650	Scoliosis
OMIM:192350	HOXD13	3239	HP:0100542	Abnormal localization of kidney
OMIM:192350	HOXD13	3239	HP:0000453	Choanal atresia
OMIM:192350	HOXD13	3239	HP:0001561	Polyhydramnios
OMIM:192350	HOXD13	3239	HP:0000076	Vesicoureteral reflux
OMIM:192350	HOXD13	3239	HP:0009778	Short thumb
OMIM:192350	HOXD13	3239	HP:0005108	Abnormality of the intervertebral disk
OMIM:192350	HOXD13	3239	HP:0002084	Encephalocele
OMIM:192350	HOXD13	3239	HP:0001622	Premature birth
OMIM:192350	HOXD13	3239	HP:0005264	Abnormality of the gallbladder
OMIM:192350	HOXD13	3239	HP:0001643	Patent ductus arteriosus
OMIM:192350	HOXD13	3239	HP:0000086	Ectopic kidney
OMIM:192350	HOXD13	3239	HP:0001159	Syndactyly
OMIM:192350	HOXD13	3239	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:192350	HOXD13	3239	HP:0005107	Abnormality of the sacrum
OMIM:192350	HOXD13	3239	HP:0001636	Tetralogy of Fallot
OMIM:192350	HOXD13	3239	HP:0001539	Omphalocele
OMIM:192350	HOXD13	3239	HP:0100589	Urogenital fistula
OMIM:192350	HOXD13	3239	HP:0002414	Spina bifida
OMIM:192350	HOXD13	3239	HP:0000776	Congenital diaphragmatic hernia
OMIM:192350	HOXD13	3239	HP:0001739	Abnormality of the nasopharynx
OMIM:192350	HOXD13	3239	HP:0001177	Preaxial hand polydactyly
OMIM:192350	HOXD13	3239	HP:0001629	Ventricular septal defect
OMIM:192350	HOXD13	3239	HP:0002974	Radioulnar synostosis
OMIM:192350	HOXD13	3239	HP:0002575	Tracheoesophageal fistula
OMIM:192350	HOXD13	3239	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:192350	HOXD13	3239	HP:0001732	Abnormality of the pancreas
OMIM:192350	HOXD13	3239	HP:0008736	Hypoplasia of penis
OMIM:192350	HOXD13	3239	HP:0000003	Multicystic kidney dysplasia
OMIM:192350	HOXD13	3239	HP:0000008	Abnormality of female internal genitalia
OMIM:192350	HOXD13	3239	HP:0000110	Renal dysplasia
OMIM:192350	HOXD13	3239	HP:0000368	Low-set, posteriorly rotated ears
OMIM:192350	HOXD13	3239	HP:0000062	Ambiguous genitalia
OMIM:192350	HOXD13	3239	HP:0002323	Anencephaly
OMIM:192350	HOXD13	3239	HP:0100627	Displacement of the external urethral meatus
OMIM:192350	HOXD13	3239	HP:0002023	Anal atresia
OMIM:192350	HOXD13	3239	HP:0000126	Hydronephrosis
OMIM:265050	MASP1	5648	HP:0000486	Strabismus
OMIM:265050	MASP1	5648	HP:0000028	Cryptorchidism
OMIM:265050	MASP1	5648	HP:0001363	Craniosynostosis
OMIM:265050	MASP1	5648	HP:0001249	Intellectual disability
OMIM:265050	MASP1	5648	HP:0000426	Prominent nasal bridge
OMIM:265050	MASP1	5648	HP:0000581	Blepharophimosis
OMIM:265050	MASP1	5648	HP:0001263	Global developmental delay
OMIM:265050	MASP1	5648	HP:0002974	Radioulnar synostosis
OMIM:265050	MASP1	5648	HP:0002553	Highly arched eyebrow
OMIM:265050	MASP1	5648	HP:0002996	Limited elbow movement
OMIM:265050	MASP1	5648	HP:0000007	Autosomal recessive inheritance
OMIM:265050	MASP1	5648	HP:0000289	Broad philtrum
OMIM:265050	MASP1	5648	HP:0000431	Wide nasal bridge
OMIM:265050	MASP1	5648	HP:0000337	Broad forehead
OMIM:265050	MASP1	5648	HP:0002714	Downturned corners of mouth
OMIM:265050	MASP1	5648	HP:0002827	Hip dislocation
OMIM:265050	MASP1	5648	HP:0000316	Hypertelorism
OMIM:265050	MASP1	5648	HP:0008897	Postnatal growth retardation
OMIM:265050	MASP1	5648	HP:0000365	Hearing impairment
OMIM:265050	MASP1	5648	HP:0000175	Cleft palate
OMIM:265050	MASP1	5648	HP:0000508	Ptosis
OMIM:265050	MASP1	5648	HP:0000494	Downslanted palpebral fissures
OMIM:265050	MASP1	5648	HP:0003468	Abnormality of the vertebrae
OMIM:265050	MASP1	5648	HP:0000473	Torticollis
OMIM:265050	MASP1	5648	HP:0001382	Joint hypermobility
OMIM:265050	MASP1	5648	HP:0010759	Prominence of the premaxilla
OMIM:265050	MASP1	5648	HP:0000204	Cleft upper lip
OMIM:265050	MASP1	5648	HP:0009004	Hypoplasia of the musculature
OMIM:265050	COLEC11	78989	HP:0000486	Strabismus
OMIM:265050	COLEC11	78989	HP:0000028	Cryptorchidism
OMIM:265050	COLEC11	78989	HP:0001363	Craniosynostosis
OMIM:265050	COLEC11	78989	HP:0001249	Intellectual disability
OMIM:265050	COLEC11	78989	HP:0000426	Prominent nasal bridge
OMIM:265050	COLEC11	78989	HP:0000581	Blepharophimosis
OMIM:265050	COLEC11	78989	HP:0001263	Global developmental delay
OMIM:265050	COLEC11	78989	HP:0002974	Radioulnar synostosis
OMIM:265050	COLEC11	78989	HP:0002553	Highly arched eyebrow
OMIM:265050	COLEC11	78989	HP:0002996	Limited elbow movement
OMIM:265050	COLEC11	78989	HP:0000007	Autosomal recessive inheritance
OMIM:265050	COLEC11	78989	HP:0000289	Broad philtrum
OMIM:265050	COLEC11	78989	HP:0000431	Wide nasal bridge
OMIM:265050	COLEC11	78989	HP:0000337	Broad forehead
OMIM:265050	COLEC11	78989	HP:0002714	Downturned corners of mouth
OMIM:265050	COLEC11	78989	HP:0002827	Hip dislocation
OMIM:265050	COLEC11	78989	HP:0000316	Hypertelorism
OMIM:265050	COLEC11	78989	HP:0008897	Postnatal growth retardation
OMIM:265050	COLEC11	78989	HP:0000365	Hearing impairment
OMIM:265050	COLEC11	78989	HP:0000175	Cleft palate
OMIM:265050	COLEC11	78989	HP:0000508	Ptosis
OMIM:265050	COLEC11	78989	HP:0000494	Downslanted palpebral fissures
OMIM:265050	COLEC11	78989	HP:0003468	Abnormality of the vertebrae
OMIM:265050	COLEC11	78989	HP:0000473	Torticollis
OMIM:265050	COLEC11	78989	HP:0001382	Joint hypermobility
OMIM:265050	COLEC11	78989	HP:0010759	Prominence of the premaxilla
OMIM:265050	COLEC11	78989	HP:0000204	Cleft upper lip
OMIM:265050	COLEC11	78989	HP:0009004	Hypoplasia of the musculature
OMIM:611719	MRPS22	56945	HP:0001541	Ascites
OMIM:611719	MRPS22	56945	HP:0001510	Growth delay
OMIM:611719	MRPS22	56945	HP:0002151	Increased serum lactate
OMIM:611719	MRPS22	56945	HP:0000278	Retrognathia
OMIM:611719	MRPS22	56945	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611719	MRPS22	56945	HP:0001522	Death in infancy
OMIM:611719	MRPS22	56945	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611719	MRPS22	56945	HP:0002352	Leukoencephalopathy
OMIM:611719	MRPS22	56945	HP:0000969	Edema
OMIM:611719	MRPS22	56945	HP:0000252	Microcephaly
OMIM:611719	MRPS22	56945	HP:0000358	Posteriorly rotated ears
OMIM:611719	MRPS22	56945	HP:0012448	Delayed myelination
OMIM:611719	MRPS22	56945	HP:0000369	Low-set ears
OMIM:611719	MRPS22	56945	HP:0008936	Muscular hypotonia of the trunk
OMIM:611719	MRPS22	56945	HP:0000091	Abnormality of the renal tubule
OMIM:611719	MRPS22	56945	HP:0001250	Seizures
OMIM:611719	MRPS22	56945	HP:0001942	Metabolic acidosis
OMIM:611719	MRPS22	56945	HP:0002510	Spastic tetraplegia
OMIM:611719	MRPS22	56945	HP:0003577	Congenital onset
OMIM:611719	MRPS22	56945	HP:0000007	Autosomal recessive inheritance
OMIM:611719	MRPS22	56945	HP:0001560	Abnormality of the amniotic fluid
OMIM:615883	STIM1	6786	HP:0002901	Hypocalcemia
OMIM:615883	STIM1	6786	HP:0003306	Spinal rigidity
OMIM:615883	STIM1	6786	HP:0001371	Flexion contracture
OMIM:615883	STIM1	6786	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615883	STIM1	6786	HP:0003324	Generalized muscle weakness
OMIM:615883	STIM1	6786	HP:0009027	Foot dorsiflexor weakness
OMIM:615883	STIM1	6786	HP:0000616	Miosis
OMIM:615883	ORAI1	84876	HP:0002901	Hypocalcemia
OMIM:615883	ORAI1	84876	HP:0003306	Spinal rigidity
OMIM:615883	ORAI1	84876	HP:0001371	Flexion contracture
OMIM:615883	ORAI1	84876	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615883	ORAI1	84876	HP:0003324	Generalized muscle weakness
OMIM:615883	ORAI1	84876	HP:0009027	Foot dorsiflexor weakness
OMIM:615883	ORAI1	84876	HP:0000616	Miosis
OMIM:160120	KCNA1	3736	HP:0000006	Autosomal dominant inheritance
OMIM:160120	KCNA1	3736	HP:0100022	Abnormality of movement
OMIM:160120	KCNA1	3736	HP:0000622	Blurred vision
OMIM:160120	KCNA1	3736	HP:0001347	Hyperreflexia
OMIM:160120	KCNA1	3736	HP:0002315	Headache
OMIM:160120	KCNA1	3736	HP:0002321	Vertigo
OMIM:160120	KCNA1	3736	HP:0002311	Incoordination
OMIM:160120	KCNA1	3736	HP:0001260	Dysarthria
OMIM:160120	KCNA1	3736	HP:0001337	Tremor
OMIM:160120	KCNA1	3736	HP:0003236	Elevated serum creatine phosphokinase
OMIM:160120	KCNA1	3736	HP:0003621	Juvenile onset
OMIM:160120	KCNA1	3736	HP:0001250	Seizures
OMIM:160120	KCNA1	3736	HP:0001276	Hypertonia
OMIM:160120	KCNA1	3736	HP:0002064	Spastic gait
OMIM:160120	KCNA1	3736	HP:0000776	Congenital diaphragmatic hernia
OMIM:160120	KCNA1	3736	HP:0003487	Babinski sign
OMIM:160120	KCNA1	3736	HP:0002167	Neurological speech impairment
OMIM:160120	KCNA1	3736	HP:0003457	EMG abnormality
OMIM:160120	KCNA1	3736	HP:0001155	Abnormality of the hand
OMIM:160120	KCNA1	3736	HP:0002131	Episodic ataxia
OMIM:160120	KCNA1	3736	HP:0003828	Variable expressivity
OMIM:603552	STX11	8676	HP:0001744	Splenomegaly
OMIM:603552	STX11	8676	HP:0002240	Hepatomegaly
OMIM:603552	STX11	8676	HP:0001250	Seizures
OMIM:603552	STX11	8676	HP:0001875	Neutropenia
OMIM:603552	STX11	8676	HP:0000007	Autosomal recessive inheritance
OMIM:603552	STX11	8676	HP:0001263	Global developmental delay
OMIM:603552	STX11	8676	HP:0001252	Muscular hypotonia
OMIM:603552	STX11	8676	HP:0001903	Anemia
OMIM:603552	STX11	8676	HP:0002155	Hypertriglyceridemia
OMIM:603552	STX11	8676	HP:0001873	Thrombocytopenia
OMIM:603552	STX11	8676	HP:0001945	Fever
OMIM:603552	UNC13D	201294	HP:0001744	Splenomegaly
OMIM:603552	UNC13D	201294	HP:0002240	Hepatomegaly
OMIM:603552	UNC13D	201294	HP:0001250	Seizures
OMIM:603552	UNC13D	201294	HP:0001875	Neutropenia
OMIM:603552	UNC13D	201294	HP:0000007	Autosomal recessive inheritance
OMIM:603552	UNC13D	201294	HP:0001263	Global developmental delay
OMIM:603552	UNC13D	201294	HP:0001252	Muscular hypotonia
OMIM:603552	UNC13D	201294	HP:0001903	Anemia
OMIM:603552	UNC13D	201294	HP:0002155	Hypertriglyceridemia
OMIM:603552	UNC13D	201294	HP:0001873	Thrombocytopenia
OMIM:603552	UNC13D	201294	HP:0001945	Fever
OMIM:603552	STXBP2	6813	HP:0001744	Splenomegaly
OMIM:603552	STXBP2	6813	HP:0002240	Hepatomegaly
OMIM:603552	STXBP2	6813	HP:0001250	Seizures
OMIM:603552	STXBP2	6813	HP:0001875	Neutropenia
OMIM:603552	STXBP2	6813	HP:0000007	Autosomal recessive inheritance
OMIM:603552	STXBP2	6813	HP:0001263	Global developmental delay
OMIM:603552	STXBP2	6813	HP:0001252	Muscular hypotonia
OMIM:603552	STXBP2	6813	HP:0001903	Anemia
OMIM:603552	STXBP2	6813	HP:0002155	Hypertriglyceridemia
OMIM:603552	STXBP2	6813	HP:0001873	Thrombocytopenia
OMIM:603552	STXBP2	6813	HP:0001945	Fever
OMIM:603552	PRF1	5551	HP:0001744	Splenomegaly
OMIM:603552	PRF1	5551	HP:0002240	Hepatomegaly
OMIM:603552	PRF1	5551	HP:0001250	Seizures
OMIM:603552	PRF1	5551	HP:0001875	Neutropenia
OMIM:603552	PRF1	5551	HP:0000007	Autosomal recessive inheritance
OMIM:603552	PRF1	5551	HP:0001263	Global developmental delay
OMIM:603552	PRF1	5551	HP:0001252	Muscular hypotonia
OMIM:603552	PRF1	5551	HP:0001903	Anemia
OMIM:603552	PRF1	5551	HP:0002155	Hypertriglyceridemia
OMIM:603552	PRF1	5551	HP:0001873	Thrombocytopenia
OMIM:603552	PRF1	5551	HP:0001945	Fever
OMIM:607450	DSP	1832	HP:0004756	Ventricular tachycardia
OMIM:607450	DSP	1832	HP:0001645	Sudden cardiac death
OMIM:607450	DSP	1832	HP:0001635	Congestive heart failure
OMIM:607450	DSP	1832	HP:0011663	Right ventricular cardiomyopathy
OMIM:607450	DSP	1832	HP:0001425	Heterogeneous
OMIM:607450	DSP	1832	HP:0001663	Ventricular fibrillation
OMIM:607450	DSP	1832	HP:0006682	Ventricular extrasystoles
OMIM:607450	DSP	1832	HP:0000006	Autosomal dominant inheritance
OMIM:611755	AIPL1	23746	HP:0004409	Hyposmia
OMIM:611755	AIPL1	23746	HP:0001250	Seizures
OMIM:611755	AIPL1	23746	HP:0000505	Visual impairment
OMIM:611755	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:611755	NMNAT1	64802	HP:0004409	Hyposmia
OMIM:611755	NMNAT1	64802	HP:0001250	Seizures
OMIM:611755	NMNAT1	64802	HP:0000505	Visual impairment
OMIM:611755	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:611755	SPATA7	55812	HP:0004409	Hyposmia
OMIM:611755	SPATA7	55812	HP:0001250	Seizures
OMIM:611755	SPATA7	55812	HP:0000505	Visual impairment
OMIM:611755	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:611755	RDH12	145226	HP:0004409	Hyposmia
OMIM:611755	RDH12	145226	HP:0001250	Seizures
OMIM:611755	RDH12	145226	HP:0000505	Visual impairment
OMIM:611755	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:611755	RPGRIP1	57096	HP:0004409	Hyposmia
OMIM:611755	RPGRIP1	57096	HP:0001250	Seizures
OMIM:611755	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:611755	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:611755	RPE65	6121	HP:0004409	Hyposmia
OMIM:611755	RPE65	6121	HP:0001250	Seizures
OMIM:611755	RPE65	6121	HP:0000505	Visual impairment
OMIM:611755	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:611755	LCA5	167691	HP:0004409	Hyposmia
OMIM:611755	LCA5	167691	HP:0001250	Seizures
OMIM:611755	LCA5	167691	HP:0000505	Visual impairment
OMIM:611755	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:611755	LRAT	9227	HP:0004409	Hyposmia
OMIM:611755	LRAT	9227	HP:0001250	Seizures
OMIM:611755	LRAT	9227	HP:0000505	Visual impairment
OMIM:611755	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:611755	IFT140	9742	HP:0004409	Hyposmia
OMIM:611755	IFT140	9742	HP:0001250	Seizures
OMIM:611755	IFT140	9742	HP:0000505	Visual impairment
OMIM:611755	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:611755	TULP1	7287	HP:0004409	Hyposmia
OMIM:611755	TULP1	7287	HP:0001250	Seizures
OMIM:611755	TULP1	7287	HP:0000505	Visual impairment
OMIM:611755	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:611755	GUCY2D	3000	HP:0004409	Hyposmia
OMIM:611755	GUCY2D	3000	HP:0001250	Seizures
OMIM:611755	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:611755	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:611755	CEP290	80184	HP:0004409	Hyposmia
OMIM:611755	CEP290	80184	HP:0001250	Seizures
OMIM:611755	CEP290	80184	HP:0000505	Visual impairment
OMIM:611755	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:611755	IQCB1	9657	HP:0004409	Hyposmia
OMIM:611755	IQCB1	9657	HP:0001250	Seizures
OMIM:611755	IQCB1	9657	HP:0000505	Visual impairment
OMIM:611755	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:611755	KCNJ13	3769	HP:0004409	Hyposmia
OMIM:611755	KCNJ13	3769	HP:0001250	Seizures
OMIM:611755	KCNJ13	3769	HP:0000505	Visual impairment
OMIM:611755	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:611755	CRB1	23418	HP:0004409	Hyposmia
OMIM:611755	CRB1	23418	HP:0001250	Seizures
OMIM:611755	CRB1	23418	HP:0000505	Visual impairment
OMIM:611755	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:611755	GDF6	392255	HP:0004409	Hyposmia
OMIM:611755	GDF6	392255	HP:0001250	Seizures
OMIM:611755	GDF6	392255	HP:0000505	Visual impairment
OMIM:611755	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:611755	RD3	343035	HP:0004409	Hyposmia
OMIM:611755	RD3	343035	HP:0001250	Seizures
OMIM:611755	RD3	343035	HP:0000505	Visual impairment
OMIM:611755	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:611755	CRX	1406	HP:0004409	Hyposmia
OMIM:611755	CRX	1406	HP:0001250	Seizures
OMIM:611755	CRX	1406	HP:0000505	Visual impairment
OMIM:611755	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:611755	IMPDH1	3614	HP:0004409	Hyposmia
OMIM:611755	IMPDH1	3614	HP:0001250	Seizures
OMIM:611755	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:611755	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:237310	NAGS	162417	HP:0002098	Respiratory distress
OMIM:237310	NAGS	162417	HP:0001250	Seizures
OMIM:237310	NAGS	162417	HP:0001254	Lethargy
OMIM:237310	NAGS	162417	HP:0000007	Autosomal recessive inheritance
OMIM:237310	NAGS	162417	HP:0100543	Cognitive impairment
OMIM:237310	NAGS	162417	HP:0001987	Hyperammonemia
OMIM:237310	NAGS	162417	HP:0001259	Coma
OMIM:237310	NAGS	162417	HP:0000718	Aggressive behavior
OMIM:237310	NAGS	162417	HP:0001508	Failure to thrive
OMIM:237310	NAGS	162417	HP:0002013	Vomiting
OMIM:602481	SCN1A	6323	HP:0002131	Episodic ataxia
OMIM:602481	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:602481	SCN1A	6323	HP:0003829	Incomplete penetrance
OMIM:602481	SCN1A	6323	HP:0002357	Dysphasia
OMIM:602481	SCN1A	6323	HP:0001250	Seizures
OMIM:602481	SCN1A	6323	HP:0002381	Aphasia
OMIM:602481	SCN1A	6323	HP:0001260	Dysarthria
OMIM:602481	SCN1A	6323	HP:0000622	Blurred vision
OMIM:602481	SCN1A	6323	HP:0002321	Vertigo
OMIM:602481	SCN1A	6323	HP:0001249	Intellectual disability
OMIM:602481	SCN1A	6323	HP:0001259	Coma
OMIM:602481	SCN1A	6323	HP:0001945	Fever
OMIM:602481	SCN1A	6323	HP:0002186	Apraxia
OMIM:602481	CACNA1A	773	HP:0002131	Episodic ataxia
OMIM:602481	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:602481	CACNA1A	773	HP:0003829	Incomplete penetrance
OMIM:602481	CACNA1A	773	HP:0002357	Dysphasia
OMIM:602481	CACNA1A	773	HP:0001250	Seizures
OMIM:602481	CACNA1A	773	HP:0002381	Aphasia
OMIM:602481	CACNA1A	773	HP:0001260	Dysarthria
OMIM:602481	CACNA1A	773	HP:0000622	Blurred vision
OMIM:602481	CACNA1A	773	HP:0002321	Vertigo
OMIM:602481	CACNA1A	773	HP:0001249	Intellectual disability
OMIM:602481	CACNA1A	773	HP:0001259	Coma
OMIM:602481	CACNA1A	773	HP:0001945	Fever
OMIM:602481	CACNA1A	773	HP:0002186	Apraxia
OMIM:602481	ATP1A2	477	HP:0002131	Episodic ataxia
OMIM:602481	ATP1A2	477	HP:0000006	Autosomal dominant inheritance
OMIM:602481	ATP1A2	477	HP:0003829	Incomplete penetrance
OMIM:602481	ATP1A2	477	HP:0002357	Dysphasia
OMIM:602481	ATP1A2	477	HP:0001250	Seizures
OMIM:602481	ATP1A2	477	HP:0002381	Aphasia
OMIM:602481	ATP1A2	477	HP:0001260	Dysarthria
OMIM:602481	ATP1A2	477	HP:0000622	Blurred vision
OMIM:602481	ATP1A2	477	HP:0002321	Vertigo
OMIM:602481	ATP1A2	477	HP:0001249	Intellectual disability
OMIM:602481	ATP1A2	477	HP:0001259	Coma
OMIM:602481	ATP1A2	477	HP:0001945	Fever
OMIM:602481	ATP1A2	477	HP:0002186	Apraxia
OMIM:602481	PRRT2	112476	HP:0002131	Episodic ataxia
OMIM:602481	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:602481	PRRT2	112476	HP:0003829	Incomplete penetrance
OMIM:602481	PRRT2	112476	HP:0002357	Dysphasia
OMIM:602481	PRRT2	112476	HP:0001250	Seizures
OMIM:602481	PRRT2	112476	HP:0002381	Aphasia
OMIM:602481	PRRT2	112476	HP:0001260	Dysarthria
OMIM:602481	PRRT2	112476	HP:0000622	Blurred vision
OMIM:602481	PRRT2	112476	HP:0002321	Vertigo
OMIM:602481	PRRT2	112476	HP:0001249	Intellectual disability
OMIM:602481	PRRT2	112476	HP:0001259	Coma
OMIM:602481	PRRT2	112476	HP:0001945	Fever
OMIM:602481	PRRT2	112476	HP:0002186	Apraxia
OMIM:616271	CLPB	81570	HP:0000518	Cataract
OMIM:616271	CLPB	81570	HP:0002719	Recurrent infections
OMIM:616271	CLPB	81570	HP:0001257	Spasticity
OMIM:616271	CLPB	81570	HP:0011968	Feeding difficulties
OMIM:616271	CLPB	81570	HP:0001263	Global developmental delay
OMIM:616271	CLPB	81570	HP:0001999	Abnormal facial shape
OMIM:616271	CLPB	81570	HP:0007256	Abnormal pyramidal signs
OMIM:616271	CLPB	81570	HP:0001272	Cerebellar atrophy
OMIM:616271	CLPB	81570	HP:0001510	Growth delay
OMIM:616271	CLPB	81570	HP:0001249	Intellectual disability
OMIM:616271	CLPB	81570	HP:0001250	Seizures
OMIM:616271	CLPB	81570	HP:0001252	Muscular hypotonia
OMIM:616271	CLPB	81570	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:616271	CLPB	81570	HP:0002059	Cerebral atrophy
OMIM:616271	CLPB	81570	HP:0001875	Neutropenia
OMIM:616271	CLPB	81570	HP:0002376	Developmental regression
OMIM:616271	CLPB	81570	HP:0000252	Microcephaly
OMIM:236800	KYNU	8942	HP:0000365	Hearing impairment
OMIM:236800	KYNU	8942	HP:0003355	Aminoaciduria
OMIM:236800	KYNU	8942	HP:0001259	Coma
OMIM:236800	KYNU	8942	HP:0001263	Global developmental delay
OMIM:236800	KYNU	8942	HP:0002086	Abnormality of the respiratory system
OMIM:236800	KYNU	8942	HP:0001942	Metabolic acidosis
OMIM:236800	KYNU	8942	HP:0003011	Abnormality of the musculature
OMIM:236800	KYNU	8942	HP:0001276	Hypertonia
OMIM:236800	KYNU	8942	HP:0001249	Intellectual disability
OMIM:236800	KYNU	8942	HP:0000007	Autosomal recessive inheritance
OMIM:236800	KYNU	8942	HP:0001649	Tachycardia
OMIM:614069	ZBTB24	9841	HP:0000311	Round face
OMIM:614069	ZBTB24	9841	HP:0001249	Intellectual disability
OMIM:614069	ZBTB24	9841	HP:0001270	Motor delay
OMIM:614069	ZBTB24	9841	HP:0000463	Anteverted nares
OMIM:614069	ZBTB24	9841	HP:0005280	Depressed nasal bridge
OMIM:614069	ZBTB24	9841	HP:0000278	Retrognathia
OMIM:614069	ZBTB24	9841	HP:0000369	Low-set ears
OMIM:614069	ZBTB24	9841	HP:0003577	Congenital onset
OMIM:614069	ZBTB24	9841	HP:0000007	Autosomal recessive inheritance
OMIM:614069	ZBTB24	9841	HP:0000331	Short chin
OMIM:614069	ZBTB24	9841	HP:0000218	High palate
OMIM:614069	ZBTB24	9841	HP:0001510	Growth delay
OMIM:614069	ZBTB24	9841	HP:0002721	Immunodeficiency
OMIM:614069	ZBTB24	9841	HP:0004313	Decreased antibody level in blood
OMIM:614069	ZBTB24	9841	HP:0000316	Hypertelorism
OMIM:614069	ZBTB24	9841	HP:0002090	Pneumonia
OMIM:614069	ZBTB24	9841	HP:0000286	Epicanthus
OMIM:614069	ZBTB24	9841	HP:0003196	Short nose
OMIM:614069	CDCA7	83879	HP:0000311	Round face
OMIM:614069	CDCA7	83879	HP:0001249	Intellectual disability
OMIM:614069	CDCA7	83879	HP:0001270	Motor delay
OMIM:614069	CDCA7	83879	HP:0000463	Anteverted nares
OMIM:614069	CDCA7	83879	HP:0005280	Depressed nasal bridge
OMIM:614069	CDCA7	83879	HP:0000278	Retrognathia
OMIM:614069	CDCA7	83879	HP:0000369	Low-set ears
OMIM:614069	CDCA7	83879	HP:0003577	Congenital onset
OMIM:614069	CDCA7	83879	HP:0000007	Autosomal recessive inheritance
OMIM:614069	CDCA7	83879	HP:0000331	Short chin
OMIM:614069	CDCA7	83879	HP:0000218	High palate
OMIM:614069	CDCA7	83879	HP:0001510	Growth delay
OMIM:614069	CDCA7	83879	HP:0002721	Immunodeficiency
OMIM:614069	CDCA7	83879	HP:0004313	Decreased antibody level in blood
OMIM:614069	CDCA7	83879	HP:0000316	Hypertelorism
OMIM:614069	CDCA7	83879	HP:0002090	Pneumonia
OMIM:614069	CDCA7	83879	HP:0000286	Epicanthus
OMIM:614069	CDCA7	83879	HP:0003196	Short nose
OMIM:614069	DNMT3B	1789	HP:0000311	Round face
OMIM:614069	DNMT3B	1789	HP:0001249	Intellectual disability
OMIM:614069	DNMT3B	1789	HP:0001270	Motor delay
OMIM:614069	DNMT3B	1789	HP:0000463	Anteverted nares
OMIM:614069	DNMT3B	1789	HP:0005280	Depressed nasal bridge
OMIM:614069	DNMT3B	1789	HP:0000278	Retrognathia
OMIM:614069	DNMT3B	1789	HP:0000369	Low-set ears
OMIM:614069	DNMT3B	1789	HP:0003577	Congenital onset
OMIM:614069	DNMT3B	1789	HP:0000007	Autosomal recessive inheritance
OMIM:614069	DNMT3B	1789	HP:0000331	Short chin
OMIM:614069	DNMT3B	1789	HP:0000218	High palate
OMIM:614069	DNMT3B	1789	HP:0001510	Growth delay
OMIM:614069	DNMT3B	1789	HP:0002721	Immunodeficiency
OMIM:614069	DNMT3B	1789	HP:0004313	Decreased antibody level in blood
OMIM:614069	DNMT3B	1789	HP:0000316	Hypertelorism
OMIM:614069	DNMT3B	1789	HP:0002090	Pneumonia
OMIM:614069	DNMT3B	1789	HP:0000286	Epicanthus
OMIM:614069	DNMT3B	1789	HP:0003196	Short nose
OMIM:614069	HELLS	3070	HP:0000311	Round face
OMIM:614069	HELLS	3070	HP:0001249	Intellectual disability
OMIM:614069	HELLS	3070	HP:0001270	Motor delay
OMIM:614069	HELLS	3070	HP:0000463	Anteverted nares
OMIM:614069	HELLS	3070	HP:0005280	Depressed nasal bridge
OMIM:614069	HELLS	3070	HP:0000278	Retrognathia
OMIM:614069	HELLS	3070	HP:0000369	Low-set ears
OMIM:614069	HELLS	3070	HP:0003577	Congenital onset
OMIM:614069	HELLS	3070	HP:0000007	Autosomal recessive inheritance
OMIM:614069	HELLS	3070	HP:0000331	Short chin
OMIM:614069	HELLS	3070	HP:0000218	High palate
OMIM:614069	HELLS	3070	HP:0001510	Growth delay
OMIM:614069	HELLS	3070	HP:0002721	Immunodeficiency
OMIM:614069	HELLS	3070	HP:0004313	Decreased antibody level in blood
OMIM:614069	HELLS	3070	HP:0000316	Hypertelorism
OMIM:614069	HELLS	3070	HP:0002090	Pneumonia
OMIM:614069	HELLS	3070	HP:0000286	Epicanthus
OMIM:614069	HELLS	3070	HP:0003196	Short nose
OMIM:614582	MRPL3	11222	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614582	MRPL3	11222	HP:0002094	Dyspnea
OMIM:614582	MRPL3	11222	HP:0000007	Autosomal recessive inheritance
OMIM:614582	MRPL3	11222	HP:0002151	Increased serum lactate
OMIM:614582	MRPL3	11222	HP:0001508	Failure to thrive
OMIM:614582	MRPL3	11222	HP:0002240	Hepatomegaly
OMIM:614582	MRPL3	11222	HP:0011968	Feeding difficulties
OMIM:614582	MRPL3	11222	HP:0001263	Global developmental delay
OMIM:614582	MRPL3	11222	HP:0002910	Elevated hepatic transaminases
OMIM:609254	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:609254	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:609254	WDR19	57728	HP:0000510	Rod-cone dystrophy
OMIM:609254	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
OMIM:609254	CEP164	22897	HP:0000090	Nephronophthisis
OMIM:609254	CEP164	22897	HP:0000007	Autosomal recessive inheritance
OMIM:609254	CEP164	22897	HP:0000510	Rod-cone dystrophy
OMIM:609254	CEP164	22897	HP:0003774	Stage 5 chronic kidney disease
OMIM:609254	TRAF3IP1	26146	HP:0000090	Nephronophthisis
OMIM:609254	TRAF3IP1	26146	HP:0000007	Autosomal recessive inheritance
OMIM:609254	TRAF3IP1	26146	HP:0000510	Rod-cone dystrophy
OMIM:609254	TRAF3IP1	26146	HP:0003774	Stage 5 chronic kidney disease
OMIM:609254	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:609254	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:609254	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:609254	NPHP1	4867	HP:0003774	Stage 5 chronic kidney disease
OMIM:609254	NPHP4	261734	HP:0000090	Nephronophthisis
OMIM:609254	NPHP4	261734	HP:0000007	Autosomal recessive inheritance
OMIM:609254	NPHP4	261734	HP:0000510	Rod-cone dystrophy
OMIM:609254	NPHP4	261734	HP:0003774	Stage 5 chronic kidney disease
OMIM:609254	SDCCAG8	10806	HP:0000090	Nephronophthisis
OMIM:609254	SDCCAG8	10806	HP:0000007	Autosomal recessive inheritance
OMIM:609254	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:609254	SDCCAG8	10806	HP:0003774	Stage 5 chronic kidney disease
OMIM:609254	NPHP3	27031	HP:0000090	Nephronophthisis
OMIM:609254	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:609254	NPHP3	27031	HP:0000510	Rod-cone dystrophy
OMIM:609254	NPHP3	27031	HP:0003774	Stage 5 chronic kidney disease
OMIM:609254	IQCB1	9657	HP:0000090	Nephronophthisis
OMIM:609254	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:609254	IQCB1	9657	HP:0000510	Rod-cone dystrophy
OMIM:609254	IQCB1	9657	HP:0003774	Stage 5 chronic kidney disease
OMIM:609254	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:609254	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:609254	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:609254	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
OMIM:609254	INVS	27130	HP:0000090	Nephronophthisis
OMIM:609254	INVS	27130	HP:0000007	Autosomal recessive inheritance
OMIM:609254	INVS	27130	HP:0000510	Rod-cone dystrophy
OMIM:609254	INVS	27130	HP:0003774	Stage 5 chronic kidney disease
OMIM:310700	FRMD7	90167	HP:0012043	Pendular nystagmus
OMIM:310700	FRMD7	90167	HP:0007663	Reduced visual acuity
OMIM:310700	FRMD7	90167	HP:0001425	Heterogeneous
OMIM:310700	FRMD7	90167	HP:0001419	X-linked recessive inheritance
OMIM:310700	FRMD7	90167	HP:0001423	X-linked dominant inheritance
OMIM:310700	FRMD7	90167	HP:0003593	Infantile onset
OMIM:113650	EYA1	2138	HP:0000175	Cleft palate
OMIM:113650	EYA1	2138	HP:0000076	Vesicoureteral reflux
OMIM:113650	EYA1	2138	HP:0001374	Congenital hip dislocation
OMIM:113650	EYA1	2138	HP:0000104	Renal agenesis
OMIM:113650	EYA1	2138	HP:0004712	Renal malrotation
OMIM:113650	EYA1	2138	HP:0000193	Bifid uvula
OMIM:113650	EYA1	2138	HP:0004467	Preauricular pit
OMIM:113650	EYA1	2138	HP:0000110	Renal dysplasia
OMIM:113650	EYA1	2138	HP:0000691	Microdontia
OMIM:113650	EYA1	2138	HP:0010628	Facial palsy
OMIM:113650	EYA1	2138	HP:0003829	Incomplete penetrance
OMIM:113650	EYA1	2138	HP:0000378	Cupped ear
OMIM:113650	EYA1	2138	HP:0000113	Polycystic kidney dysplasia
OMIM:113650	EYA1	2138	HP:0000218	High palate
OMIM:113650	EYA1	2138	HP:0002566	Intestinal malrotation
OMIM:113650	EYA1	2138	HP:0003828	Variable expressivity
OMIM:113650	EYA1	2138	HP:0000275	Narrow face
OMIM:113650	EYA1	2138	HP:0004742	Abnormality of the renal collecting system
OMIM:113650	EYA1	2138	HP:0000276	Long face
OMIM:113650	EYA1	2138	HP:0008551	Microtia
OMIM:113650	EYA1	2138	HP:0000384	Preauricular skin tag
OMIM:113650	EYA1	2138	HP:0002060	Abnormality of the cerebrum
OMIM:113650	EYA1	2138	HP:0001425	Heterogeneous
OMIM:113650	EYA1	2138	HP:0000402	Stenosis of the external auditory canal
OMIM:113650	EYA1	2138	HP:0000006	Autosomal dominant inheritance
OMIM:113650	EYA1	2138	HP:0000376	Incomplete partition of the cochlea type II
OMIM:113650	SIX5	147912	HP:0000175	Cleft palate
OMIM:113650	SIX5	147912	HP:0000076	Vesicoureteral reflux
OMIM:113650	SIX5	147912	HP:0001374	Congenital hip dislocation
OMIM:113650	SIX5	147912	HP:0000104	Renal agenesis
OMIM:113650	SIX5	147912	HP:0004712	Renal malrotation
OMIM:113650	SIX5	147912	HP:0000193	Bifid uvula
OMIM:113650	SIX5	147912	HP:0004467	Preauricular pit
OMIM:113650	SIX5	147912	HP:0000110	Renal dysplasia
OMIM:113650	SIX5	147912	HP:0000691	Microdontia
OMIM:113650	SIX5	147912	HP:0010628	Facial palsy
OMIM:113650	SIX5	147912	HP:0003829	Incomplete penetrance
OMIM:113650	SIX5	147912	HP:0000378	Cupped ear
OMIM:113650	SIX5	147912	HP:0000113	Polycystic kidney dysplasia
OMIM:113650	SIX5	147912	HP:0000218	High palate
OMIM:113650	SIX5	147912	HP:0002566	Intestinal malrotation
OMIM:113650	SIX5	147912	HP:0003828	Variable expressivity
OMIM:113650	SIX5	147912	HP:0000275	Narrow face
OMIM:113650	SIX5	147912	HP:0004742	Abnormality of the renal collecting system
OMIM:113650	SIX5	147912	HP:0000276	Long face
OMIM:113650	SIX5	147912	HP:0008551	Microtia
OMIM:113650	SIX5	147912	HP:0000384	Preauricular skin tag
OMIM:113650	SIX5	147912	HP:0002060	Abnormality of the cerebrum
OMIM:113650	SIX5	147912	HP:0001425	Heterogeneous
OMIM:113650	SIX5	147912	HP:0000402	Stenosis of the external auditory canal
OMIM:113650	SIX5	147912	HP:0000006	Autosomal dominant inheritance
OMIM:113650	SIX5	147912	HP:0000376	Incomplete partition of the cochlea type II
OMIM:113650	SIX1	6495	HP:0000175	Cleft palate
OMIM:113650	SIX1	6495	HP:0000076	Vesicoureteral reflux
OMIM:113650	SIX1	6495	HP:0001374	Congenital hip dislocation
OMIM:113650	SIX1	6495	HP:0000104	Renal agenesis
OMIM:113650	SIX1	6495	HP:0004712	Renal malrotation
OMIM:113650	SIX1	6495	HP:0000193	Bifid uvula
OMIM:113650	SIX1	6495	HP:0004467	Preauricular pit
OMIM:113650	SIX1	6495	HP:0000110	Renal dysplasia
OMIM:113650	SIX1	6495	HP:0000691	Microdontia
OMIM:113650	SIX1	6495	HP:0010628	Facial palsy
OMIM:113650	SIX1	6495	HP:0003829	Incomplete penetrance
OMIM:113650	SIX1	6495	HP:0000378	Cupped ear
OMIM:113650	SIX1	6495	HP:0000113	Polycystic kidney dysplasia
OMIM:113650	SIX1	6495	HP:0000218	High palate
OMIM:113650	SIX1	6495	HP:0002566	Intestinal malrotation
OMIM:113650	SIX1	6495	HP:0003828	Variable expressivity
OMIM:113650	SIX1	6495	HP:0000275	Narrow face
OMIM:113650	SIX1	6495	HP:0004742	Abnormality of the renal collecting system
OMIM:113650	SIX1	6495	HP:0000276	Long face
OMIM:113650	SIX1	6495	HP:0008551	Microtia
OMIM:113650	SIX1	6495	HP:0000384	Preauricular skin tag
OMIM:113650	SIX1	6495	HP:0002060	Abnormality of the cerebrum
OMIM:113650	SIX1	6495	HP:0001425	Heterogeneous
OMIM:113650	SIX1	6495	HP:0000402	Stenosis of the external auditory canal
OMIM:113650	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:113650	SIX1	6495	HP:0000376	Incomplete partition of the cochlea type II
OMIM:614675	SRP72	6731	HP:0002863	Myelodysplasia
OMIM:614675	SRP72	6731	HP:0000006	Autosomal dominant inheritance
OMIM:614675	SRP72	6731	HP:0005528	Bone marrow hypocellularity
OMIM:614675	SRP72	6731	HP:0001915	Aplastic anemia
OMIM:300271	ZNF711	7552	HP:0000733	Stereotypic behavior
OMIM:300271	ZNF711	7552	HP:0000752	Hyperactivity
OMIM:300271	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300271	ZNF711	7552	HP:0001250	Seizures
OMIM:300271	ZNF711	7552	HP:0000256	Macrocephaly
OMIM:300271	ZNF711	7552	HP:0000268	Dolichocephaly
OMIM:300271	ZNF711	7552	HP:0001263	Global developmental delay
OMIM:300271	ZNF711	7552	HP:0000276	Long face
OMIM:300271	ZNF711	7552	HP:0001419	X-linked recessive inheritance
OMIM:300271	IL1RAPL1	11141	HP:0000733	Stereotypic behavior
OMIM:300271	IL1RAPL1	11141	HP:0000752	Hyperactivity
OMIM:300271	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300271	IL1RAPL1	11141	HP:0001250	Seizures
OMIM:300271	IL1RAPL1	11141	HP:0000256	Macrocephaly
OMIM:300271	IL1RAPL1	11141	HP:0000268	Dolichocephaly
OMIM:300271	IL1RAPL1	11141	HP:0001263	Global developmental delay
OMIM:300271	IL1RAPL1	11141	HP:0000276	Long face
OMIM:300271	IL1RAPL1	11141	HP:0001419	X-linked recessive inheritance
OMIM:300271	ACSL4	2182	HP:0000733	Stereotypic behavior
OMIM:300271	ACSL4	2182	HP:0000752	Hyperactivity
OMIM:300271	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300271	ACSL4	2182	HP:0001250	Seizures
OMIM:300271	ACSL4	2182	HP:0000256	Macrocephaly
OMIM:300271	ACSL4	2182	HP:0000268	Dolichocephaly
OMIM:300271	ACSL4	2182	HP:0001263	Global developmental delay
OMIM:300271	ACSL4	2182	HP:0000276	Long face
OMIM:300271	ACSL4	2182	HP:0001419	X-linked recessive inheritance
OMIM:300271	PAK3	5063	HP:0000733	Stereotypic behavior
OMIM:300271	PAK3	5063	HP:0000752	Hyperactivity
OMIM:300271	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300271	PAK3	5063	HP:0001250	Seizures
OMIM:300271	PAK3	5063	HP:0000256	Macrocephaly
OMIM:300271	PAK3	5063	HP:0000268	Dolichocephaly
OMIM:300271	PAK3	5063	HP:0001263	Global developmental delay
OMIM:300271	PAK3	5063	HP:0000276	Long face
OMIM:300271	PAK3	5063	HP:0001419	X-linked recessive inheritance
OMIM:300271	SYP	6855	HP:0000733	Stereotypic behavior
OMIM:300271	SYP	6855	HP:0000752	Hyperactivity
OMIM:300271	SYP	6855	HP:0001249	Intellectual disability
OMIM:300271	SYP	6855	HP:0001250	Seizures
OMIM:300271	SYP	6855	HP:0000256	Macrocephaly
OMIM:300271	SYP	6855	HP:0000268	Dolichocephaly
OMIM:300271	SYP	6855	HP:0001263	Global developmental delay
OMIM:300271	SYP	6855	HP:0000276	Long face
OMIM:300271	SYP	6855	HP:0001419	X-linked recessive inheritance
OMIM:300271	FTSJ1	24140	HP:0000733	Stereotypic behavior
OMIM:300271	FTSJ1	24140	HP:0000752	Hyperactivity
OMIM:300271	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300271	FTSJ1	24140	HP:0001250	Seizures
OMIM:300271	FTSJ1	24140	HP:0000256	Macrocephaly
OMIM:300271	FTSJ1	24140	HP:0000268	Dolichocephaly
OMIM:300271	FTSJ1	24140	HP:0001263	Global developmental delay
OMIM:300271	FTSJ1	24140	HP:0000276	Long face
OMIM:300271	FTSJ1	24140	HP:0001419	X-linked recessive inheritance
OMIM:300271	DLG3	1741	HP:0000733	Stereotypic behavior
OMIM:300271	DLG3	1741	HP:0000752	Hyperactivity
OMIM:300271	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300271	DLG3	1741	HP:0001250	Seizures
OMIM:300271	DLG3	1741	HP:0000256	Macrocephaly
OMIM:300271	DLG3	1741	HP:0000268	Dolichocephaly
OMIM:300271	DLG3	1741	HP:0001263	Global developmental delay
OMIM:300271	DLG3	1741	HP:0000276	Long face
OMIM:300271	DLG3	1741	HP:0001419	X-linked recessive inheritance
OMIM:300271	PTCHD1	139411	HP:0000733	Stereotypic behavior
OMIM:300271	PTCHD1	139411	HP:0000752	Hyperactivity
OMIM:300271	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300271	PTCHD1	139411	HP:0001250	Seizures
OMIM:300271	PTCHD1	139411	HP:0000256	Macrocephaly
OMIM:300271	PTCHD1	139411	HP:0000268	Dolichocephaly
OMIM:300271	PTCHD1	139411	HP:0001263	Global developmental delay
OMIM:300271	PTCHD1	139411	HP:0000276	Long face
OMIM:300271	PTCHD1	139411	HP:0001419	X-linked recessive inheritance
OMIM:300271	UPF3B	65109	HP:0000733	Stereotypic behavior
OMIM:300271	UPF3B	65109	HP:0000752	Hyperactivity
OMIM:300271	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300271	UPF3B	65109	HP:0001250	Seizures
OMIM:300271	UPF3B	65109	HP:0000256	Macrocephaly
OMIM:300271	UPF3B	65109	HP:0000268	Dolichocephaly
OMIM:300271	UPF3B	65109	HP:0001263	Global developmental delay
OMIM:300271	UPF3B	65109	HP:0000276	Long face
OMIM:300271	UPF3B	65109	HP:0001419	X-linked recessive inheritance
OMIM:300271	ZNF81	347344	HP:0000733	Stereotypic behavior
OMIM:300271	ZNF81	347344	HP:0000752	Hyperactivity
OMIM:300271	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300271	ZNF81	347344	HP:0001250	Seizures
OMIM:300271	ZNF81	347344	HP:0000256	Macrocephaly
OMIM:300271	ZNF81	347344	HP:0000268	Dolichocephaly
OMIM:300271	ZNF81	347344	HP:0001263	Global developmental delay
OMIM:300271	ZNF81	347344	HP:0000276	Long face
OMIM:300271	ZNF81	347344	HP:0001419	X-linked recessive inheritance
OMIM:300271	RAB39B	116442	HP:0000733	Stereotypic behavior
OMIM:300271	RAB39B	116442	HP:0000752	Hyperactivity
OMIM:300271	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300271	RAB39B	116442	HP:0001250	Seizures
OMIM:300271	RAB39B	116442	HP:0000256	Macrocephaly
OMIM:300271	RAB39B	116442	HP:0000268	Dolichocephaly
OMIM:300271	RAB39B	116442	HP:0001263	Global developmental delay
OMIM:300271	RAB39B	116442	HP:0000276	Long face
OMIM:300271	RAB39B	116442	HP:0001419	X-linked recessive inheritance
OMIM:300271	DMD	1756	HP:0000733	Stereotypic behavior
OMIM:300271	DMD	1756	HP:0000752	Hyperactivity
OMIM:300271	DMD	1756	HP:0001249	Intellectual disability
OMIM:300271	DMD	1756	HP:0001250	Seizures
OMIM:300271	DMD	1756	HP:0000256	Macrocephaly
OMIM:300271	DMD	1756	HP:0000268	Dolichocephaly
OMIM:300271	DMD	1756	HP:0001263	Global developmental delay
OMIM:300271	DMD	1756	HP:0000276	Long face
OMIM:300271	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:300271	MAGT1	84061	HP:0000733	Stereotypic behavior
OMIM:300271	MAGT1	84061	HP:0000752	Hyperactivity
OMIM:300271	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300271	MAGT1	84061	HP:0001250	Seizures
OMIM:300271	MAGT1	84061	HP:0000256	Macrocephaly
OMIM:300271	MAGT1	84061	HP:0000268	Dolichocephaly
OMIM:300271	MAGT1	84061	HP:0001263	Global developmental delay
OMIM:300271	MAGT1	84061	HP:0000276	Long face
OMIM:300271	MAGT1	84061	HP:0001419	X-linked recessive inheritance
OMIM:300271	MID2	11043	HP:0000733	Stereotypic behavior
OMIM:300271	MID2	11043	HP:0000752	Hyperactivity
OMIM:300271	MID2	11043	HP:0001249	Intellectual disability
OMIM:300271	MID2	11043	HP:0001250	Seizures
OMIM:300271	MID2	11043	HP:0000256	Macrocephaly
OMIM:300271	MID2	11043	HP:0000268	Dolichocephaly
OMIM:300271	MID2	11043	HP:0001263	Global developmental delay
OMIM:300271	MID2	11043	HP:0000276	Long face
OMIM:300271	MID2	11043	HP:0001419	X-linked recessive inheritance
OMIM:300271	GDI1	2664	HP:0000733	Stereotypic behavior
OMIM:300271	GDI1	2664	HP:0000752	Hyperactivity
OMIM:300271	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300271	GDI1	2664	HP:0001250	Seizures
OMIM:300271	GDI1	2664	HP:0000256	Macrocephaly
OMIM:300271	GDI1	2664	HP:0000268	Dolichocephaly
OMIM:300271	GDI1	2664	HP:0001263	Global developmental delay
OMIM:300271	GDI1	2664	HP:0000276	Long face
OMIM:300271	GDI1	2664	HP:0001419	X-linked recessive inheritance
OMIM:300271	ZNF41	7592	HP:0000733	Stereotypic behavior
OMIM:300271	ZNF41	7592	HP:0000752	Hyperactivity
OMIM:300271	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300271	ZNF41	7592	HP:0001250	Seizures
OMIM:300271	ZNF41	7592	HP:0000256	Macrocephaly
OMIM:300271	ZNF41	7592	HP:0000268	Dolichocephaly
OMIM:300271	ZNF41	7592	HP:0001263	Global developmental delay
OMIM:300271	ZNF41	7592	HP:0000276	Long face
OMIM:300271	ZNF41	7592	HP:0001419	X-linked recessive inheritance
OMIM:300271	MECP2	4204	HP:0000733	Stereotypic behavior
OMIM:300271	MECP2	4204	HP:0000752	Hyperactivity
OMIM:300271	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300271	MECP2	4204	HP:0001250	Seizures
OMIM:300271	MECP2	4204	HP:0000256	Macrocephaly
OMIM:300271	MECP2	4204	HP:0000268	Dolichocephaly
OMIM:300271	MECP2	4204	HP:0001263	Global developmental delay
OMIM:300271	MECP2	4204	HP:0000276	Long face
OMIM:300271	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300271	HCFC1	3054	HP:0000733	Stereotypic behavior
OMIM:300271	HCFC1	3054	HP:0000752	Hyperactivity
OMIM:300271	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300271	HCFC1	3054	HP:0001250	Seizures
OMIM:300271	HCFC1	3054	HP:0000256	Macrocephaly
OMIM:300271	HCFC1	3054	HP:0000268	Dolichocephaly
OMIM:300271	HCFC1	3054	HP:0001263	Global developmental delay
OMIM:300271	HCFC1	3054	HP:0000276	Long face
OMIM:300271	HCFC1	3054	HP:0001419	X-linked recessive inheritance
OMIM:300271	USP9X	8239	HP:0000733	Stereotypic behavior
OMIM:300271	USP9X	8239	HP:0000752	Hyperactivity
OMIM:300271	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300271	USP9X	8239	HP:0001250	Seizures
OMIM:300271	USP9X	8239	HP:0000256	Macrocephaly
OMIM:300271	USP9X	8239	HP:0000268	Dolichocephaly
OMIM:300271	USP9X	8239	HP:0001263	Global developmental delay
OMIM:300271	USP9X	8239	HP:0000276	Long face
OMIM:300271	USP9X	8239	HP:0001419	X-linked recessive inheritance
OMIM:300271	MED12	9968	HP:0000733	Stereotypic behavior
OMIM:300271	MED12	9968	HP:0000752	Hyperactivity
OMIM:300271	MED12	9968	HP:0001249	Intellectual disability
OMIM:300271	MED12	9968	HP:0001250	Seizures
OMIM:300271	MED12	9968	HP:0000256	Macrocephaly
OMIM:300271	MED12	9968	HP:0000268	Dolichocephaly
OMIM:300271	MED12	9968	HP:0001263	Global developmental delay
OMIM:300271	MED12	9968	HP:0000276	Long face
OMIM:300271	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:300271	ZNF674	641339	HP:0000733	Stereotypic behavior
OMIM:300271	ZNF674	641339	HP:0000752	Hyperactivity
OMIM:300271	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300271	ZNF674	641339	HP:0001250	Seizures
OMIM:300271	ZNF674	641339	HP:0000256	Macrocephaly
OMIM:300271	ZNF674	641339	HP:0000268	Dolichocephaly
OMIM:300271	ZNF674	641339	HP:0001263	Global developmental delay
OMIM:300271	ZNF674	641339	HP:0000276	Long face
OMIM:300271	ZNF674	641339	HP:0001419	X-linked recessive inheritance
OMIM:300271	ARHGEF6	9459	HP:0000733	Stereotypic behavior
OMIM:300271	ARHGEF6	9459	HP:0000752	Hyperactivity
OMIM:300271	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300271	ARHGEF6	9459	HP:0001250	Seizures
OMIM:300271	ARHGEF6	9459	HP:0000256	Macrocephaly
OMIM:300271	ARHGEF6	9459	HP:0000268	Dolichocephaly
OMIM:300271	ARHGEF6	9459	HP:0001263	Global developmental delay
OMIM:300271	ARHGEF6	9459	HP:0000276	Long face
OMIM:300271	ARHGEF6	9459	HP:0001419	X-linked recessive inheritance
OMIM:300271	RPS6KA3	6197	HP:0000733	Stereotypic behavior
OMIM:300271	RPS6KA3	6197	HP:0000752	Hyperactivity
OMIM:300271	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300271	RPS6KA3	6197	HP:0001250	Seizures
OMIM:300271	RPS6KA3	6197	HP:0000256	Macrocephaly
OMIM:300271	RPS6KA3	6197	HP:0000268	Dolichocephaly
OMIM:300271	RPS6KA3	6197	HP:0001263	Global developmental delay
OMIM:300271	RPS6KA3	6197	HP:0000276	Long face
OMIM:300271	RPS6KA3	6197	HP:0001419	X-linked recessive inheritance
OMIM:300271	IQSEC2	23096	HP:0000733	Stereotypic behavior
OMIM:300271	IQSEC2	23096	HP:0000752	Hyperactivity
OMIM:300271	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300271	IQSEC2	23096	HP:0001250	Seizures
OMIM:300271	IQSEC2	23096	HP:0000256	Macrocephaly
OMIM:300271	IQSEC2	23096	HP:0000268	Dolichocephaly
OMIM:300271	IQSEC2	23096	HP:0001263	Global developmental delay
OMIM:300271	IQSEC2	23096	HP:0000276	Long face
OMIM:300271	IQSEC2	23096	HP:0001419	X-linked recessive inheritance
OMIM:300271	AGTR2	186	HP:0000733	Stereotypic behavior
OMIM:300271	AGTR2	186	HP:0000752	Hyperactivity
OMIM:300271	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300271	AGTR2	186	HP:0001250	Seizures
OMIM:300271	AGTR2	186	HP:0000256	Macrocephaly
OMIM:300271	AGTR2	186	HP:0000268	Dolichocephaly
OMIM:300271	AGTR2	186	HP:0001263	Global developmental delay
OMIM:300271	AGTR2	186	HP:0000276	Long face
OMIM:300271	AGTR2	186	HP:0001419	X-linked recessive inheritance
OMIM:300271	ARX	170302	HP:0000733	Stereotypic behavior
OMIM:300271	ARX	170302	HP:0000752	Hyperactivity
OMIM:300271	ARX	170302	HP:0001249	Intellectual disability
OMIM:300271	ARX	170302	HP:0001250	Seizures
OMIM:300271	ARX	170302	HP:0000256	Macrocephaly
OMIM:300271	ARX	170302	HP:0000268	Dolichocephaly
OMIM:300271	ARX	170302	HP:0001263	Global developmental delay
OMIM:300271	ARX	170302	HP:0000276	Long face
OMIM:300271	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:300271	ALG13	79868	HP:0000733	Stereotypic behavior
OMIM:300271	ALG13	79868	HP:0000752	Hyperactivity
OMIM:300271	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300271	ALG13	79868	HP:0001250	Seizures
OMIM:300271	ALG13	79868	HP:0000256	Macrocephaly
OMIM:300271	ALG13	79868	HP:0000268	Dolichocephaly
OMIM:300271	ALG13	79868	HP:0001263	Global developmental delay
OMIM:300271	ALG13	79868	HP:0000276	Long face
OMIM:300271	ALG13	79868	HP:0001419	X-linked recessive inheritance
OMIM:300271	TSPAN7	7102	HP:0000733	Stereotypic behavior
OMIM:300271	TSPAN7	7102	HP:0000752	Hyperactivity
OMIM:300271	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300271	TSPAN7	7102	HP:0001250	Seizures
OMIM:300271	TSPAN7	7102	HP:0000256	Macrocephaly
OMIM:300271	TSPAN7	7102	HP:0000268	Dolichocephaly
OMIM:300271	TSPAN7	7102	HP:0001263	Global developmental delay
OMIM:300271	TSPAN7	7102	HP:0000276	Long face
OMIM:300271	TSPAN7	7102	HP:0001419	X-linked recessive inheritance
OMIM:616171	ATR	545	HP:0000252	Microcephaly
OMIM:616171	ATR	545	HP:0002059	Cerebral atrophy
OMIM:616171	ATR	545	HP:0007401	Macular atrophy
OMIM:616171	ATR	545	HP:0000488	Retinopathy
OMIM:616171	ATR	545	HP:0001272	Cerebellar atrophy
OMIM:616171	ATR	545	HP:0000347	Micrognathia
OMIM:616171	ATR	545	HP:0004322	Short stature
OMIM:616171	ATR	545	HP:0001263	Global developmental delay
OMIM:616171	ATR	545	HP:0000568	Microphthalmia
OMIM:616171	ATR	545	HP:0000482	Microcornea
OMIM:616171	ATR	545	HP:0000648	Optic atrophy
OMIM:616171	ATR	545	HP:0001511	Intrauterine growth retardation
OMIM:616171	ATR	545	HP:0000543	Optic disc pallor
OMIM:616171	ATR	545	HP:0001250	Seizures
OMIM:616171	ATR	545	HP:0000518	Cataract
OMIM:616171	ATR	545	HP:0000448	Prominent nose
OMIM:616171	ATR	545	HP:0000520	Proptosis
OMIM:616171	ATR	545	HP:0001249	Intellectual disability
OMIM:616171	ATR	545	HP:0000340	Sloping forehead
OMIM:616171	ATR	545	HP:0000505	Visual impairment
OMIM:616171	ATR	545	HP:0009879	Cortical gyral simplification
OMIM:616171	CEP152	22995	HP:0000252	Microcephaly
OMIM:616171	CEP152	22995	HP:0002059	Cerebral atrophy
OMIM:616171	CEP152	22995	HP:0007401	Macular atrophy
OMIM:616171	CEP152	22995	HP:0000488	Retinopathy
OMIM:616171	CEP152	22995	HP:0001272	Cerebellar atrophy
OMIM:616171	CEP152	22995	HP:0000347	Micrognathia
OMIM:616171	CEP152	22995	HP:0004322	Short stature
OMIM:616171	CEP152	22995	HP:0001263	Global developmental delay
OMIM:616171	CEP152	22995	HP:0000568	Microphthalmia
OMIM:616171	CEP152	22995	HP:0000482	Microcornea
OMIM:616171	CEP152	22995	HP:0000648	Optic atrophy
OMIM:616171	CEP152	22995	HP:0001511	Intrauterine growth retardation
OMIM:616171	CEP152	22995	HP:0000543	Optic disc pallor
OMIM:616171	CEP152	22995	HP:0001250	Seizures
OMIM:616171	CEP152	22995	HP:0000518	Cataract
OMIM:616171	CEP152	22995	HP:0000448	Prominent nose
OMIM:616171	CEP152	22995	HP:0000520	Proptosis
OMIM:616171	CEP152	22995	HP:0001249	Intellectual disability
OMIM:616171	CEP152	22995	HP:0000340	Sloping forehead
OMIM:616171	CEP152	22995	HP:0000505	Visual impairment
OMIM:616171	CEP152	22995	HP:0009879	Cortical gyral simplification
OMIM:616171	CENPE	1062	HP:0000252	Microcephaly
OMIM:616171	CENPE	1062	HP:0002059	Cerebral atrophy
OMIM:616171	CENPE	1062	HP:0007401	Macular atrophy
OMIM:616171	CENPE	1062	HP:0000488	Retinopathy
OMIM:616171	CENPE	1062	HP:0001272	Cerebellar atrophy
OMIM:616171	CENPE	1062	HP:0000347	Micrognathia
OMIM:616171	CENPE	1062	HP:0004322	Short stature
OMIM:616171	CENPE	1062	HP:0001263	Global developmental delay
OMIM:616171	CENPE	1062	HP:0000568	Microphthalmia
OMIM:616171	CENPE	1062	HP:0000482	Microcornea
OMIM:616171	CENPE	1062	HP:0000648	Optic atrophy
OMIM:616171	CENPE	1062	HP:0001511	Intrauterine growth retardation
OMIM:616171	CENPE	1062	HP:0000543	Optic disc pallor
OMIM:616171	CENPE	1062	HP:0001250	Seizures
OMIM:616171	CENPE	1062	HP:0000518	Cataract
OMIM:616171	CENPE	1062	HP:0000448	Prominent nose
OMIM:616171	CENPE	1062	HP:0000520	Proptosis
OMIM:616171	CENPE	1062	HP:0001249	Intellectual disability
OMIM:616171	CENPE	1062	HP:0000340	Sloping forehead
OMIM:616171	CENPE	1062	HP:0000505	Visual impairment
OMIM:616171	CENPE	1062	HP:0009879	Cortical gyral simplification
OMIM:616171	CENPJ	55835	HP:0000252	Microcephaly
OMIM:616171	CENPJ	55835	HP:0002059	Cerebral atrophy
OMIM:616171	CENPJ	55835	HP:0007401	Macular atrophy
OMIM:616171	CENPJ	55835	HP:0000488	Retinopathy
OMIM:616171	CENPJ	55835	HP:0001272	Cerebellar atrophy
OMIM:616171	CENPJ	55835	HP:0000347	Micrognathia
OMIM:616171	CENPJ	55835	HP:0004322	Short stature
OMIM:616171	CENPJ	55835	HP:0001263	Global developmental delay
OMIM:616171	CENPJ	55835	HP:0000568	Microphthalmia
OMIM:616171	CENPJ	55835	HP:0000482	Microcornea
OMIM:616171	CENPJ	55835	HP:0000648	Optic atrophy
OMIM:616171	CENPJ	55835	HP:0001511	Intrauterine growth retardation
OMIM:616171	CENPJ	55835	HP:0000543	Optic disc pallor
OMIM:616171	CENPJ	55835	HP:0001250	Seizures
OMIM:616171	CENPJ	55835	HP:0000518	Cataract
OMIM:616171	CENPJ	55835	HP:0000448	Prominent nose
OMIM:616171	CENPJ	55835	HP:0000520	Proptosis
OMIM:616171	CENPJ	55835	HP:0001249	Intellectual disability
OMIM:616171	CENPJ	55835	HP:0000340	Sloping forehead
OMIM:616171	CENPJ	55835	HP:0000505	Visual impairment
OMIM:616171	CENPJ	55835	HP:0009879	Cortical gyral simplification
OMIM:616171	PCNT	5116	HP:0000252	Microcephaly
OMIM:616171	PCNT	5116	HP:0002059	Cerebral atrophy
OMIM:616171	PCNT	5116	HP:0007401	Macular atrophy
OMIM:616171	PCNT	5116	HP:0000488	Retinopathy
OMIM:616171	PCNT	5116	HP:0001272	Cerebellar atrophy
OMIM:616171	PCNT	5116	HP:0000347	Micrognathia
OMIM:616171	PCNT	5116	HP:0004322	Short stature
OMIM:616171	PCNT	5116	HP:0001263	Global developmental delay
OMIM:616171	PCNT	5116	HP:0000568	Microphthalmia
OMIM:616171	PCNT	5116	HP:0000482	Microcornea
OMIM:616171	PCNT	5116	HP:0000648	Optic atrophy
OMIM:616171	PCNT	5116	HP:0001511	Intrauterine growth retardation
OMIM:616171	PCNT	5116	HP:0000543	Optic disc pallor
OMIM:616171	PCNT	5116	HP:0001250	Seizures
OMIM:616171	PCNT	5116	HP:0000518	Cataract
OMIM:616171	PCNT	5116	HP:0000448	Prominent nose
OMIM:616171	PCNT	5116	HP:0000520	Proptosis
OMIM:616171	PCNT	5116	HP:0001249	Intellectual disability
OMIM:616171	PCNT	5116	HP:0000340	Sloping forehead
OMIM:616171	PCNT	5116	HP:0000505	Visual impairment
OMIM:616171	PCNT	5116	HP:0009879	Cortical gyral simplification
OMIM:616171	RBBP8	5932	HP:0000252	Microcephaly
OMIM:616171	RBBP8	5932	HP:0002059	Cerebral atrophy
OMIM:616171	RBBP8	5932	HP:0007401	Macular atrophy
OMIM:616171	RBBP8	5932	HP:0000488	Retinopathy
OMIM:616171	RBBP8	5932	HP:0001272	Cerebellar atrophy
OMIM:616171	RBBP8	5932	HP:0000347	Micrognathia
OMIM:616171	RBBP8	5932	HP:0004322	Short stature
OMIM:616171	RBBP8	5932	HP:0001263	Global developmental delay
OMIM:616171	RBBP8	5932	HP:0000568	Microphthalmia
OMIM:616171	RBBP8	5932	HP:0000482	Microcornea
OMIM:616171	RBBP8	5932	HP:0000648	Optic atrophy
OMIM:616171	RBBP8	5932	HP:0001511	Intrauterine growth retardation
OMIM:616171	RBBP8	5932	HP:0000543	Optic disc pallor
OMIM:616171	RBBP8	5932	HP:0001250	Seizures
OMIM:616171	RBBP8	5932	HP:0000518	Cataract
OMIM:616171	RBBP8	5932	HP:0000448	Prominent nose
OMIM:616171	RBBP8	5932	HP:0000520	Proptosis
OMIM:616171	RBBP8	5932	HP:0001249	Intellectual disability
OMIM:616171	RBBP8	5932	HP:0000340	Sloping forehead
OMIM:616171	RBBP8	5932	HP:0000505	Visual impairment
OMIM:616171	RBBP8	5932	HP:0009879	Cortical gyral simplification
OMIM:616171	PLK4	10733	HP:0000252	Microcephaly
OMIM:616171	PLK4	10733	HP:0002059	Cerebral atrophy
OMIM:616171	PLK4	10733	HP:0007401	Macular atrophy
OMIM:616171	PLK4	10733	HP:0000488	Retinopathy
OMIM:616171	PLK4	10733	HP:0001272	Cerebellar atrophy
OMIM:616171	PLK4	10733	HP:0000347	Micrognathia
OMIM:616171	PLK4	10733	HP:0004322	Short stature
OMIM:616171	PLK4	10733	HP:0001263	Global developmental delay
OMIM:616171	PLK4	10733	HP:0000568	Microphthalmia
OMIM:616171	PLK4	10733	HP:0000482	Microcornea
OMIM:616171	PLK4	10733	HP:0000648	Optic atrophy
OMIM:616171	PLK4	10733	HP:0001511	Intrauterine growth retardation
OMIM:616171	PLK4	10733	HP:0000543	Optic disc pallor
OMIM:616171	PLK4	10733	HP:0001250	Seizures
OMIM:616171	PLK4	10733	HP:0000518	Cataract
OMIM:616171	PLK4	10733	HP:0000448	Prominent nose
OMIM:616171	PLK4	10733	HP:0000520	Proptosis
OMIM:616171	PLK4	10733	HP:0001249	Intellectual disability
OMIM:616171	PLK4	10733	HP:0000340	Sloping forehead
OMIM:616171	PLK4	10733	HP:0000505	Visual impairment
OMIM:616171	PLK4	10733	HP:0009879	Cortical gyral simplification
OMIM:616171	ATRIP	84126	HP:0000252	Microcephaly
OMIM:616171	ATRIP	84126	HP:0002059	Cerebral atrophy
OMIM:616171	ATRIP	84126	HP:0007401	Macular atrophy
OMIM:616171	ATRIP	84126	HP:0000488	Retinopathy
OMIM:616171	ATRIP	84126	HP:0001272	Cerebellar atrophy
OMIM:616171	ATRIP	84126	HP:0000347	Micrognathia
OMIM:616171	ATRIP	84126	HP:0004322	Short stature
OMIM:616171	ATRIP	84126	HP:0001263	Global developmental delay
OMIM:616171	ATRIP	84126	HP:0000568	Microphthalmia
OMIM:616171	ATRIP	84126	HP:0000482	Microcornea
OMIM:616171	ATRIP	84126	HP:0000648	Optic atrophy
OMIM:616171	ATRIP	84126	HP:0001511	Intrauterine growth retardation
OMIM:616171	ATRIP	84126	HP:0000543	Optic disc pallor
OMIM:616171	ATRIP	84126	HP:0001250	Seizures
OMIM:616171	ATRIP	84126	HP:0000518	Cataract
OMIM:616171	ATRIP	84126	HP:0000448	Prominent nose
OMIM:616171	ATRIP	84126	HP:0000520	Proptosis
OMIM:616171	ATRIP	84126	HP:0001249	Intellectual disability
OMIM:616171	ATRIP	84126	HP:0000340	Sloping forehead
OMIM:616171	ATRIP	84126	HP:0000505	Visual impairment
OMIM:616171	ATRIP	84126	HP:0009879	Cortical gyral simplification
OMIM:613451	ALX4	60529	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:613451	ALX4	60529	HP:0001596	Alopecia
OMIM:613451	ALX4	60529	HP:0000653	Sparse eyelashes
OMIM:613451	ALX4	60529	HP:0000252	Microcephaly
OMIM:613451	ALX4	60529	HP:0000966	Hypohidrosis
OMIM:613451	ALX4	60529	HP:0000535	Sparse eyebrow
OMIM:613451	ALX4	60529	HP:0002084	Encephalocele
OMIM:613451	ALX4	60529	HP:0000582	Upslanted palpebral fissure
OMIM:613451	ALX4	60529	HP:0001363	Craniosynostosis
OMIM:613451	ALX4	60529	HP:0002213	Fine hair
OMIM:613451	ALX4	60529	HP:0005280	Depressed nasal bridge
OMIM:613451	ALX4	60529	HP:0000316	Hypertelorism
OMIM:613451	ALX4	60529	HP:0100543	Cognitive impairment
OMIM:613451	ALX4	60529	HP:0001320	Cerebellar vermis hypoplasia
OMIM:613451	ALX4	60529	HP:0002007	Frontal bossing
OMIM:613451	ALX4	60529	HP:0000046	Scrotal hypoplasia
OMIM:613451	ALX4	60529	HP:0001562	Oligohydramnios
OMIM:613451	ALX4	60529	HP:0000486	Strabismus
OMIM:613451	ALX4	60529	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613451	ALX4	60529	HP:0009924	Aplasia/Hypoplasia involving the nose
OMIM:613451	ALX4	60529	HP:0012745	Short palpebral fissure
OMIM:613451	ALX4	60529	HP:0000431	Wide nasal bridge
OMIM:613451	ALX4	60529	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:613451	ALX4	60529	HP:0006482	Abnormality of dental morphology
OMIM:613451	ALX4	60529	HP:0000028	Cryptorchidism
OMIM:613451	ALX4	60529	HP:0000581	Blepharophimosis
OMIM:613451	ALX4	60529	HP:0001511	Intrauterine growth retardation
OMIM:613451	ALX4	60529	HP:0004122	Midline defect of the nose
OMIM:613451	ALX4	60529	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613451	ALX4	60529	HP:0000457	Depressed nasal ridge
OMIM:613451	ALX4	60529	HP:0000288	Abnormality of the philtrum
OMIM:613451	ALX4	60529	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613451	ALX4	60529	HP:0000463	Anteverted nares
OMIM:613451	ALX4	60529	HP:0000639	Nystagmus
OMIM:613451	ALX4	60529	HP:0000506	Telecanthus
OMIM:613451	ALX4	60529	HP:0001249	Intellectual disability
OMIM:613451	ALX4	60529	HP:0002697	Parietal foramina
OMIM:616034	NADK2	133686	HP:0001298	Encephalopathy
OMIM:616034	NADK2	133686	HP:0001257	Spasticity
OMIM:616034	NADK2	133686	HP:0000639	Nystagmus
OMIM:616034	NADK2	133686	HP:0000252	Microcephaly
OMIM:616034	NADK2	133686	HP:0001252	Muscular hypotonia
OMIM:616034	NADK2	133686	HP:0001332	Dystonia
OMIM:616034	NADK2	133686	HP:0002059	Cerebral atrophy
OMIM:616034	NADK2	133686	HP:0002119	Ventriculomegaly
OMIM:616034	NADK2	133686	HP:0001250	Seizures
OMIM:616034	NADK2	133686	HP:0001266	Choreoathetosis
OMIM:616034	NADK2	133686	HP:0001508	Failure to thrive
OMIM:616034	NADK2	133686	HP:0002445	Tetraplegia
OMIM:616034	NADK2	133686	HP:0002415	Leukodystrophy
OMIM:616034	NADK2	133686	HP:0001263	Global developmental delay
OMIM:616034	NADK2	133686	HP:0100704	Cortical visual impairment
OMIM:250950	AUH	549	HP:0002510	Spastic tetraplegia
OMIM:250950	AUH	549	HP:0000007	Autosomal recessive inheritance
OMIM:250950	AUH	549	HP:0002059	Cerebral atrophy
OMIM:250950	AUH	549	HP:0000252	Microcephaly
OMIM:250950	AUH	549	HP:0004374	Hemiplegia/hemiparesis
OMIM:250950	AUH	549	HP:0002373	Febrile seizures
OMIM:250950	AUH	549	HP:0000648	Optic atrophy
OMIM:250950	AUH	549	HP:0100543	Cognitive impairment
OMIM:250950	AUH	549	HP:0001347	Hyperreflexia
OMIM:250950	AUH	549	HP:0001270	Motor delay
OMIM:250950	AUH	549	HP:0001250	Seizures
OMIM:250950	AUH	549	HP:0003593	Infantile onset
OMIM:250950	AUH	549	HP:0002305	Athetosis
OMIM:250950	AUH	549	HP:0001508	Failure to thrive
OMIM:250950	AUH	549	HP:0001332	Dystonia
OMIM:250950	AUH	549	HP:0001943	Hypoglycemia
OMIM:250950	AUH	549	HP:0001251	Ataxia
OMIM:250950	AUH	549	HP:0000750	Delayed speech and language development
OMIM:250950	AUH	549	HP:0002352	Leukoencephalopathy
OMIM:250950	AUH	549	HP:0001260	Dysarthria
OMIM:250950	AUH	549	HP:0001263	Global developmental delay
OMIM:250950	AUH	549	HP:0000736	Short attention span
OMIM:250950	AUH	549	HP:0001942	Metabolic acidosis
OMIM:250950	AUH	549	HP:0003812	Phenotypic variability
OMIM:250950	AUH	549	HP:0000020	Urinary incontinence
OMIM:250950	AUH	549	HP:0002240	Hepatomegaly
ORPHANET:610	COL12A1	1303	HP:0003198	Myopathy
ORPHANET:610	COL12A1	1303	HP:0001376	Limitation of joint mobility
ORPHANET:610	COL12A1	1303	HP:0100490	Camptodactyly of finger
ORPHANET:610	COL12A1	1303	HP:0004325	Decreased body weight
ORPHANET:610	COL12A1	1303	HP:0003457	EMG abnormality
ORPHANET:610	COL6A1	1291	HP:0003198	Myopathy
ORPHANET:610	COL6A1	1291	HP:0001376	Limitation of joint mobility
ORPHANET:610	COL6A1	1291	HP:0100490	Camptodactyly of finger
ORPHANET:610	COL6A1	1291	HP:0004325	Decreased body weight
ORPHANET:610	COL6A1	1291	HP:0003457	EMG abnormality
ORPHANET:610	COL6A2	1292	HP:0003198	Myopathy
ORPHANET:610	COL6A2	1292	HP:0001376	Limitation of joint mobility
ORPHANET:610	COL6A2	1292	HP:0100490	Camptodactyly of finger
ORPHANET:610	COL6A2	1292	HP:0004325	Decreased body weight
ORPHANET:610	COL6A2	1292	HP:0003457	EMG abnormality
ORPHANET:610	COL6A3	1293	HP:0003198	Myopathy
ORPHANET:610	COL6A3	1293	HP:0001376	Limitation of joint mobility
ORPHANET:610	COL6A3	1293	HP:0100490	Camptodactyly of finger
ORPHANET:610	COL6A3	1293	HP:0004325	Decreased body weight
ORPHANET:610	COL6A3	1293	HP:0003457	EMG abnormality
OMIM:231900	GSS	2937	HP:0001878	Hemolytic anemia
OMIM:231900	GSS	2937	HP:0000007	Autosomal recessive inheritance
OMIM:190685	GATA1	2623	HP:0010808	Protruding tongue
OMIM:190685	GATA1	2623	HP:0003745	Sporadic
OMIM:190685	GATA1	2623	HP:0008551	Microtia
OMIM:190685	GATA1	2623	HP:0000286	Epicanthus
OMIM:190685	GATA1	2623	HP:0001252	Muscular hypotonia
OMIM:190685	GATA1	2623	HP:0003182	Shallow acetabular fossae
OMIM:190685	GATA1	2623	HP:0002251	Aganglionic megacolon
OMIM:190685	GATA1	2623	HP:0000954	Single transverse palmar crease
OMIM:190685	GATA1	2623	HP:0001249	Intellectual disability
OMIM:190685	GATA1	2623	HP:0000821	Hypothyroidism
OMIM:190685	GATA1	2623	HP:0004220	Short middle phalanx of the 5th finger
OMIM:190685	GATA1	2623	HP:0005547	Myeloproliferative disorder
OMIM:190685	GATA1	2623	HP:0000272	Malar flattening
OMIM:190685	GATA1	2623	HP:0000248	Brachycephaly
OMIM:190685	GATA1	2623	HP:0100867	Duodenal stenosis
OMIM:190685	GATA1	2623	HP:0000405	Conductive hearing impairment
OMIM:190685	GATA1	2623	HP:0001388	Joint laxity
OMIM:190685	GATA1	2623	HP:0002023	Anal atresia
OMIM:190685	GATA1	2623	HP:0000474	Thickened nuchal skin fold
OMIM:190685	GATA1	2623	HP:0000158	Macroglossia
OMIM:190685	GATA1	2623	HP:0001674	Complete atrioventricular canal defect
OMIM:190685	GATA1	2623	HP:0004279	Short palm
OMIM:190685	GATA1	2623	HP:0004322	Short stature
OMIM:190685	GATA1	2623	HP:0000582	Upslanted palpebral fissure
OMIM:190685	GATA1	2623	HP:0012368	Flat face
OMIM:263400	VHL	7428	HP:0002315	Headache
OMIM:263400	VHL	7428	HP:0001297	Stroke
OMIM:263400	VHL	7428	HP:0000007	Autosomal recessive inheritance
OMIM:263400	VHL	7428	HP:0001028	Hemangioma
OMIM:608751	MYL3	4634	HP:0000006	Autosomal dominant inheritance
OMIM:608751	MYL3	4634	HP:0001723	Restrictive cardiomyopathy
OMIM:608751	MYL3	4634	HP:0000007	Autosomal recessive inheritance
OMIM:608751	MYL3	4634	HP:0001639	Hypertrophic cardiomyopathy
OMIM:608751	MYL3	4634	HP:0006685	Endocardial fibrosis
OMIM:174900	BMPR1A	657	HP:0004394	Multiple gastric polyps
OMIM:174900	BMPR1A	657	HP:0001508	Failure to thrive
OMIM:174900	BMPR1A	657	HP:0001903	Anemia
OMIM:174900	BMPR1A	657	HP:0001217	Clubbing
OMIM:174900	BMPR1A	657	HP:0000006	Autosomal dominant inheritance
OMIM:174900	BMPR1A	657	HP:0002035	Rectal prolapse
OMIM:174900	BMPR1A	657	HP:0002573	Hematochezia
OMIM:174900	BMPR1A	657	HP:0002576	Intussusception
OMIM:174900	BMPR1A	657	HP:0002014	Diarrhea
OMIM:174900	BMPR1A	657	HP:0003073	Hypoalbuminemia
OMIM:174900	BMPR1A	657	HP:0002027	Abdominal pain
OMIM:174900	ENG	2022	HP:0004394	Multiple gastric polyps
OMIM:174900	ENG	2022	HP:0001508	Failure to thrive
OMIM:174900	ENG	2022	HP:0001903	Anemia
OMIM:174900	ENG	2022	HP:0001217	Clubbing
OMIM:174900	ENG	2022	HP:0000006	Autosomal dominant inheritance
OMIM:174900	ENG	2022	HP:0002035	Rectal prolapse
OMIM:174900	ENG	2022	HP:0002573	Hematochezia
OMIM:174900	ENG	2022	HP:0002576	Intussusception
OMIM:174900	ENG	2022	HP:0002014	Diarrhea
OMIM:174900	ENG	2022	HP:0003073	Hypoalbuminemia
OMIM:174900	ENG	2022	HP:0002027	Abdominal pain
OMIM:174900	SMAD4	4089	HP:0004394	Multiple gastric polyps
OMIM:174900	SMAD4	4089	HP:0001508	Failure to thrive
OMIM:174900	SMAD4	4089	HP:0001903	Anemia
OMIM:174900	SMAD4	4089	HP:0001217	Clubbing
OMIM:174900	SMAD4	4089	HP:0000006	Autosomal dominant inheritance
OMIM:174900	SMAD4	4089	HP:0002035	Rectal prolapse
OMIM:174900	SMAD4	4089	HP:0002573	Hematochezia
OMIM:174900	SMAD4	4089	HP:0002576	Intussusception
OMIM:174900	SMAD4	4089	HP:0002014	Diarrhea
OMIM:174900	SMAD4	4089	HP:0003073	Hypoalbuminemia
OMIM:174900	SMAD4	4089	HP:0002027	Abdominal pain
OMIM:604185	HOXB1	3211	HP:0003680	Nonprogressive
OMIM:604185	HOXB1	3211	HP:0010628	Facial palsy
OMIM:604185	HOXB1	3211	HP:0000006	Autosomal dominant inheritance
OMIM:604185	HOXB1	3211	HP:0000365	Hearing impairment
OMIM:613307	MSRB3	253827	HP:0000750	Delayed speech and language development
OMIM:613307	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:613307	BSND	7809	HP:0000750	Delayed speech and language development
OMIM:613307	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:613307	ESPN	83715	HP:0000750	Delayed speech and language development
OMIM:613307	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:613307	DFNB31	25861	HP:0000750	Delayed speech and language development
OMIM:613307	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:613307	OTOA	146183	HP:0000750	Delayed speech and language development
OMIM:613307	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:613307	GJA1	2697	HP:0000750	Delayed speech and language development
OMIM:613307	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:613307	MET	4233	HP:0000750	Delayed speech and language development
OMIM:613307	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:613307	CLDN14	23562	HP:0000750	Delayed speech and language development
OMIM:613307	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:613307	HGF	3082	HP:0000750	Delayed speech and language development
OMIM:613307	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:613307	PNPT1	87178	HP:0000750	Delayed speech and language development
OMIM:613307	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:613307	EPS8	2059	HP:0000750	Delayed speech and language development
OMIM:613307	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:613307	MYO3A	53904	HP:0000750	Delayed speech and language development
OMIM:613307	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:613307	DCDC2	51473	HP:0000750	Delayed speech and language development
OMIM:613307	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:613307	GJB2	2706	HP:0000750	Delayed speech and language development
OMIM:613307	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:613307	GJB3	2707	HP:0000750	Delayed speech and language development
OMIM:613307	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:613307	CABP2	51475	HP:0000750	Delayed speech and language development
OMIM:613307	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:613307	GRXCR2	643226	HP:0000750	Delayed speech and language development
OMIM:613307	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:613307	SERPINB6	5269	HP:0000750	Delayed speech and language development
OMIM:613307	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:613307	COL11A2	1302	HP:0000750	Delayed speech and language development
OMIM:613307	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:613307	CIB2	10518	HP:0000750	Delayed speech and language development
OMIM:613307	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:613307	FAM65B	9750	HP:0000750	Delayed speech and language development
OMIM:613307	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:613307	KARS	3735	HP:0000750	Delayed speech and language development
OMIM:613307	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:613307	LOXHD1	125336	HP:0000750	Delayed speech and language development
OMIM:613307	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:613307	TMC1	117531	HP:0000750	Delayed speech and language development
OMIM:613307	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:613307	CLIC5	53405	HP:0000750	Delayed speech and language development
OMIM:613307	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:613307	OTOF	9381	HP:0000750	Delayed speech and language development
OMIM:613307	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:613307	MYO6	4646	HP:0000750	Delayed speech and language development
OMIM:613307	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:613307	TMIE	259236	HP:0000750	Delayed speech and language development
OMIM:613307	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:613307	MYO7A	4647	HP:0000750	Delayed speech and language development
OMIM:613307	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:613307	LRTOMT	220074	HP:0000750	Delayed speech and language development
OMIM:613307	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:613307	OTOGL	283310	HP:0000750	Delayed speech and language development
OMIM:613307	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:613307	TPRN	286262	HP:0000750	Delayed speech and language development
OMIM:613307	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:613307	SLC26A4	5172	HP:0000750	Delayed speech and language development
OMIM:613307	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:613307	GJB6	10804	HP:0000750	Delayed speech and language development
OMIM:613307	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:613307	DFNB59	494513	HP:0000750	Delayed speech and language development
OMIM:613307	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:613307	ESRRB	2103	HP:0000750	Delayed speech and language development
OMIM:613307	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:613307	TMPRSS3	64699	HP:0000750	Delayed speech and language development
OMIM:613307	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:613307	PTPRQ	374462	HP:0000750	Delayed speech and language development
OMIM:613307	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:613307	SLC26A5	375611	HP:0000750	Delayed speech and language development
OMIM:613307	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:613307	PCDH15	65217	HP:0000750	Delayed speech and language development
OMIM:613307	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:613307	TSPEAR	54084	HP:0000750	Delayed speech and language development
OMIM:613307	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:613307	LHFPL5	222662	HP:0000750	Delayed speech and language development
OMIM:613307	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:613307	TRIOBP	11078	HP:0000750	Delayed speech and language development
OMIM:613307	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:613307	CDH23	64072	HP:0000750	Delayed speech and language development
OMIM:613307	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:613307	RDX	5962	HP:0000750	Delayed speech and language development
OMIM:613307	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:613307	GPSM2	29899	HP:0000750	Delayed speech and language development
OMIM:613307	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:613307	ELMOD3	84173	HP:0000750	Delayed speech and language development
OMIM:613307	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:613307	ILDR1	286676	HP:0000750	Delayed speech and language development
OMIM:613307	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:613307	GRXCR1	389207	HP:0000750	Delayed speech and language development
OMIM:613307	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:613307	MARVELD2	153562	HP:0000750	Delayed speech and language development
OMIM:613307	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:613307	STRC	161497	HP:0000750	Delayed speech and language development
OMIM:613307	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:613307	SLITRK6	84189	HP:0000750	Delayed speech and language development
OMIM:613307	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:613307	TECTA	7007	HP:0000750	Delayed speech and language development
OMIM:613307	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:613307	MYO15A	51168	HP:0000750	Delayed speech and language development
OMIM:613307	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:613307	USH1C	10083	HP:0000750	Delayed speech and language development
OMIM:613307	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:613307	ADCY1	107	HP:0000750	Delayed speech and language development
OMIM:613307	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:613307	SYNE4	163183	HP:0000750	Delayed speech and language development
OMIM:613307	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:613307	GIPC3	126326	HP:0000750	Delayed speech and language development
OMIM:613307	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:613307	TBC1D24	57465	HP:0000750	Delayed speech and language development
OMIM:613307	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:613307	OTOG	340990	HP:0000750	Delayed speech and language development
OMIM:613307	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:609968	INSR	3643	HP:0000006	Autosomal dominant inheritance
OMIM:143470	APOC3	345	HP:0000006	Autosomal dominant inheritance
OMIM:143470	CETP	1071	HP:0000006	Autosomal dominant inheritance
OMIM:611878	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:611878	TPM1	7168	HP:0004756	Ventricular tachycardia
OMIM:611878	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:611878	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:611878	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:611878	CRYAB	1410	HP:0004756	Ventricular tachycardia
OMIM:611878	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:611878	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:611878	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:611878	ACTC1	70	HP:0004756	Ventricular tachycardia
OMIM:611878	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:611878	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:611878	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:611878	RAF1	5894	HP:0004756	Ventricular tachycardia
OMIM:611878	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:611878	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:611878	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:611878	GATAD1	57798	HP:0004756	Ventricular tachycardia
OMIM:611878	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:611878	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:611878	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:611878	LAMA4	3910	HP:0004756	Ventricular tachycardia
OMIM:611878	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:611878	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:611878	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:611878	TMPO	7112	HP:0004756	Ventricular tachycardia
OMIM:611878	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:611878	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:611878	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:611878	DES	1674	HP:0004756	Ventricular tachycardia
OMIM:611878	DES	1674	HP:0001635	Congestive heart failure
OMIM:611878	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:611878	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:611878	ABCC9	10060	HP:0004756	Ventricular tachycardia
OMIM:611878	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:611878	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:611878	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:611878	MYH6	4624	HP:0004756	Ventricular tachycardia
OMIM:611878	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:611878	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:611878	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:611878	MYH7	4625	HP:0004756	Ventricular tachycardia
OMIM:611878	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:611878	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:611878	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:611878	LDB3	11155	HP:0004756	Ventricular tachycardia
OMIM:611878	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:611878	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:611878	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:611878	ACTN2	88	HP:0004756	Ventricular tachycardia
OMIM:611878	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:611878	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:611878	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:611878	TXNRD2	10587	HP:0004756	Ventricular tachycardia
OMIM:611878	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:611878	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:611878	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:611878	DMD	1756	HP:0004756	Ventricular tachycardia
OMIM:611878	DMD	1756	HP:0001635	Congestive heart failure
OMIM:611878	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:611878	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:611878	TNNC1	7134	HP:0004756	Ventricular tachycardia
OMIM:611878	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:611878	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:611878	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:611878	PSEN1	5663	HP:0004756	Ventricular tachycardia
OMIM:611878	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:611878	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:611878	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:611878	LMNA	4000	HP:0004756	Ventricular tachycardia
OMIM:611878	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:611878	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:611878	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:611878	PSEN2	5664	HP:0004756	Ventricular tachycardia
OMIM:611878	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:611878	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:611878	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:611878	TNNI3	7137	HP:0004756	Ventricular tachycardia
OMIM:611878	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:611878	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:611878	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:611878	FHL2	2274	HP:0004756	Ventricular tachycardia
OMIM:611878	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:611878	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:611878	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:611878	TNNT2	7139	HP:0004756	Ventricular tachycardia
OMIM:611878	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:611878	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:611878	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:611878	DSG2	1829	HP:0004756	Ventricular tachycardia
OMIM:611878	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:611878	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:611878	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:611878	PLN	5350	HP:0004756	Ventricular tachycardia
OMIM:611878	PLN	5350	HP:0001635	Congestive heart failure
OMIM:611878	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:611878	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:611878	PRDM16	63976	HP:0004756	Ventricular tachycardia
OMIM:611878	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:611878	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:611878	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:611878	TTN	7273	HP:0004756	Ventricular tachycardia
OMIM:611878	TTN	7273	HP:0001635	Congestive heart failure
OMIM:611878	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:611878	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:611878	NEXN	91624	HP:0004756	Ventricular tachycardia
OMIM:611878	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:611878	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:611878	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:611878	FKTN	2218	HP:0004756	Ventricular tachycardia
OMIM:611878	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:611878	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:611878	MYH7B	57644	HP:0001644	Dilated cardiomyopathy
OMIM:611878	MYH7B	57644	HP:0004756	Ventricular tachycardia
OMIM:611878	MYH7B	57644	HP:0001635	Congestive heart failure
OMIM:611878	MYH7B	57644	HP:0000006	Autosomal dominant inheritance
OMIM:611878	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:611878	SGCD	6444	HP:0004756	Ventricular tachycardia
OMIM:611878	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:611878	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:611878	DTNA	1837	HP:0001644	Dilated cardiomyopathy
OMIM:611878	DTNA	1837	HP:0004756	Ventricular tachycardia
OMIM:611878	DTNA	1837	HP:0001635	Congestive heart failure
OMIM:611878	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:611878	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:611878	TCAP	8557	HP:0004756	Ventricular tachycardia
OMIM:611878	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:611878	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:611878	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:611878	CSRP3	8048	HP:0004756	Ventricular tachycardia
OMIM:611878	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:611878	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:611878	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:611878	RBM20	282996	HP:0004756	Ventricular tachycardia
OMIM:611878	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:611878	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:611878	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:611878	TAZ	6901	HP:0004756	Ventricular tachycardia
OMIM:611878	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:611878	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:611878	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:611878	SDHA	6389	HP:0004756	Ventricular tachycardia
OMIM:611878	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:611878	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:611878	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:611878	VCL	7414	HP:0004756	Ventricular tachycardia
OMIM:611878	VCL	7414	HP:0001635	Congestive heart failure
OMIM:611878	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:611878	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:611878	MYPN	84665	HP:0004756	Ventricular tachycardia
OMIM:611878	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:611878	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:611878	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:611878	SCN5A	6331	HP:0004756	Ventricular tachycardia
OMIM:611878	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:611878	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:611878	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:611878	BAG3	9531	HP:0004756	Ventricular tachycardia
OMIM:611878	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:611878	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:611878	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:611878	DOLK	22845	HP:0004756	Ventricular tachycardia
OMIM:611878	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:611878	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:611878	MIB1	57534	HP:0001644	Dilated cardiomyopathy
OMIM:611878	MIB1	57534	HP:0004756	Ventricular tachycardia
OMIM:611878	MIB1	57534	HP:0001635	Congestive heart failure
OMIM:611878	MIB1	57534	HP:0000006	Autosomal dominant inheritance
OMIM:611878	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:611878	MYBPC3	4607	HP:0004756	Ventricular tachycardia
OMIM:611878	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:611878	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:194090	POU6F2	11281	HP:0000006	Autosomal dominant inheritance
OMIM:194090	POU6F2	11281	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194090	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:194090	WT1	7490	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194090	H19	283120	HP:0000006	Autosomal dominant inheritance
OMIM:194090	H19	283120	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194090	DIS3L2	129563	HP:0000006	Autosomal dominant inheritance
OMIM:194090	DIS3L2	129563	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:615048	CHCHD10	400916	HP:0002355	Difficulty walking
OMIM:615048	CHCHD10	400916	HP:0003677	Slow progression
OMIM:615048	CHCHD10	400916	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615048	CHCHD10	400916	HP:0008981	Calf muscle hypertrophy
OMIM:615048	CHCHD10	400916	HP:0001337	Tremor
OMIM:615048	CHCHD10	400916	HP:0001763	Pes planus
OMIM:615048	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:615048	CHCHD10	400916	HP:0001284	Areflexia
OMIM:615048	CHCHD10	400916	HP:0001761	Pes cavus
OMIM:615048	CHCHD10	400916	HP:0007269	Spinal muscular atrophy
OMIM:615048	CHCHD10	400916	HP:0001265	Hyporeflexia
OMIM:615048	CHCHD10	400916	HP:0001765	Hammertoe
OMIM:615048	CHCHD10	400916	HP:0002380	Fasciculations
OMIM:162200	NF1	4763	HP:0000501	Glaucoma
OMIM:162200	NF1	4763	HP:0004322	Short stature
OMIM:162200	NF1	4763	HP:0100697	Neurofibrosarcoma
OMIM:162200	NF1	4763	HP:0000316	Hypertelorism
OMIM:162200	NF1	4763	HP:0000822	Hypertension
OMIM:162200	NF1	4763	HP:0001328	Specific learning disability
OMIM:162200	NF1	4763	HP:0002414	Spina bifida
OMIM:162200	NF1	4763	HP:0001920	Renal artery stenosis
OMIM:162200	NF1	4763	HP:0002857	Genu valgum
OMIM:162200	NF1	4763	HP:0002521	Hypsarrhythmia
OMIM:162200	NF1	4763	HP:0002859	Rhabdomyosarcoma
OMIM:162200	NF1	4763	HP:0000238	Hydrocephalus
OMIM:162200	NF1	4763	HP:0001250	Seizures
OMIM:162200	NF1	4763	HP:0000957	Cafe-au-lait spot
OMIM:162200	NF1	4763	HP:0001256	Intellectual disability, mild
OMIM:162200	NF1	4763	HP:0001548	Overgrowth
OMIM:162200	NF1	4763	HP:0000006	Autosomal dominant inheritance
OMIM:162200	NF1	4763	HP:0002650	Scoliosis
OMIM:162200	NF1	4763	HP:0002858	Meningioma
OMIM:162200	NF1	4763	HP:0009592	Astrocytoma
OMIM:614408	BIN1	274	HP:0000006	Autosomal dominant inheritance
OMIM:614408	BIN1	274	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614408	BIN1	274	HP:0003394	Muscle cramps
OMIM:614408	BIN1	274	HP:0001324	Muscle weakness
OMIM:614408	MTMR14	64419	HP:0000006	Autosomal dominant inheritance
OMIM:614408	MTMR14	64419	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614408	MTMR14	64419	HP:0003394	Muscle cramps
OMIM:614408	MTMR14	64419	HP:0001324	Muscle weakness
OMIM:614408	RYR1	6261	HP:0000006	Autosomal dominant inheritance
OMIM:614408	RYR1	6261	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614408	RYR1	6261	HP:0003394	Muscle cramps
OMIM:614408	RYR1	6261	HP:0001324	Muscle weakness
OMIM:614408	DNM2	1785	HP:0000006	Autosomal dominant inheritance
OMIM:614408	DNM2	1785	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614408	DNM2	1785	HP:0003394	Muscle cramps
OMIM:614408	DNM2	1785	HP:0001324	Muscle weakness
OMIM:614408	MYF6	4618	HP:0000006	Autosomal dominant inheritance
OMIM:614408	MYF6	4618	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614408	MYF6	4618	HP:0003394	Muscle cramps
OMIM:614408	MYF6	4618	HP:0001324	Muscle weakness
OMIM:601472	GARS	2617	HP:0009129	Upper limb amyotrophy
OMIM:601472	GARS	2617	HP:0002936	Distal sensory impairment
OMIM:601472	GARS	2617	HP:0002650	Scoliosis
OMIM:601472	GARS	2617	HP:0001761	Pes cavus
OMIM:601472	GARS	2617	HP:0003677	Slow progression
OMIM:601472	GARS	2617	HP:0003674	Onset
OMIM:601472	GARS	2617	HP:0003693	Distal amyotrophy
OMIM:601472	GARS	2617	HP:0003393	Thenar muscle atrophy
OMIM:601472	GARS	2617	HP:0001765	Hammertoe
OMIM:601472	GARS	2617	HP:0000006	Autosomal dominant inheritance
OMIM:601472	GARS	2617	HP:0001265	Hyporeflexia
OMIM:173200	CARD14	79092	HP:0001231	Abnormality of the fingernails
OMIM:173200	CARD14	79092	HP:0007400	Irregular hyperpigmentation
OMIM:173200	CARD14	79092	HP:0000006	Autosomal dominant inheritance
OMIM:173200	CARD14	79092	HP:0002664	Neoplasm
OMIM:173200	CARD14	79092	HP:0000964	Eczema
OMIM:173200	CARD14	79092	HP:0008064	Ichthyosis
OMIM:173200	CARD14	79092	HP:0000982	Palmoplantar keratoderma
OMIM:173200	CARD14	79092	HP:0000989	Pruritus
OMIM:173200	CARD14	79092	HP:0000163	Abnormality of the oral cavity
OMIM:609975	HADH	3033	HP:0001249	Intellectual disability
OMIM:609975	HADH	3033	HP:0000007	Autosomal recessive inheritance
OMIM:167200	KRT17	3872	HP:0007502	Follicular hyperkeratosis
OMIM:167200	KRT17	3872	HP:0001425	Heterogeneous
OMIM:167200	KRT17	3872	HP:0000006	Autosomal dominant inheritance
OMIM:167200	KRT16	3868	HP:0007502	Follicular hyperkeratosis
OMIM:167200	KRT16	3868	HP:0001425	Heterogeneous
OMIM:167200	KRT16	3868	HP:0000006	Autosomal dominant inheritance
OMIM:167200	KRT6A	3853	HP:0007502	Follicular hyperkeratosis
OMIM:167200	KRT6A	3853	HP:0001425	Heterogeneous
OMIM:167200	KRT6A	3853	HP:0000006	Autosomal dominant inheritance
OMIM:167200	KRT6B	3854	HP:0007502	Follicular hyperkeratosis
OMIM:167200	KRT6B	3854	HP:0001425	Heterogeneous
OMIM:167200	KRT6B	3854	HP:0000006	Autosomal dominant inheritance
OMIM:615654	DIAPH1	1729	HP:0000360	Tinnitus
OMIM:615654	DIAPH1	1729	HP:0000365	Hearing impairment
OMIM:615654	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:615654	CEACAM16	388551	HP:0000360	Tinnitus
OMIM:615654	CEACAM16	388551	HP:0000365	Hearing impairment
OMIM:615654	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:615654	SLC17A8	246213	HP:0000360	Tinnitus
OMIM:615654	SLC17A8	246213	HP:0000365	Hearing impairment
OMIM:615654	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:615654	TJP2	9414	HP:0000360	Tinnitus
OMIM:615654	TJP2	9414	HP:0000365	Hearing impairment
OMIM:615654	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:615654	ACTG1	71	HP:0000360	Tinnitus
OMIM:615654	ACTG1	71	HP:0000365	Hearing impairment
OMIM:615654	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:615654	CCDC50	152137	HP:0000360	Tinnitus
OMIM:615654	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:615654	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:615654	MIR96	407053	HP:0000360	Tinnitus
OMIM:615654	MIR96	407053	HP:0000365	Hearing impairment
OMIM:615654	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:615654	GJB2	2706	HP:0000360	Tinnitus
OMIM:615654	GJB2	2706	HP:0000365	Hearing impairment
OMIM:615654	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:615654	POU4F3	5459	HP:0000360	Tinnitus
OMIM:615654	POU4F3	5459	HP:0000365	Hearing impairment
OMIM:615654	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:615654	GJB3	2707	HP:0000360	Tinnitus
OMIM:615654	GJB3	2707	HP:0000365	Hearing impairment
OMIM:615654	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:615654	MYH9	4627	HP:0000360	Tinnitus
OMIM:615654	MYH9	4627	HP:0000365	Hearing impairment
OMIM:615654	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:615654	CRYM	1428	HP:0000360	Tinnitus
OMIM:615654	CRYM	1428	HP:0000365	Hearing impairment
OMIM:615654	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:615654	COL11A2	1302	HP:0000360	Tinnitus
OMIM:615654	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:615654	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:615654	EYA4	2070	HP:0000360	Tinnitus
OMIM:615654	EYA4	2070	HP:0000365	Hearing impairment
OMIM:615654	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:615654	DFNA5	1687	HP:0000360	Tinnitus
OMIM:615654	DFNA5	1687	HP:0000365	Hearing impairment
OMIM:615654	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:615654	DIAPH3	81624	HP:0000360	Tinnitus
OMIM:615654	DIAPH3	81624	HP:0000365	Hearing impairment
OMIM:615654	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:615654	TMC1	117531	HP:0000360	Tinnitus
OMIM:615654	TMC1	117531	HP:0000365	Hearing impairment
OMIM:615654	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:615654	COCH	1690	HP:0000360	Tinnitus
OMIM:615654	COCH	1690	HP:0000365	Hearing impairment
OMIM:615654	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:615654	OSBPL2	9885	HP:0000360	Tinnitus
OMIM:615654	OSBPL2	9885	HP:0000365	Hearing impairment
OMIM:615654	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:615654	SIX1	6495	HP:0000360	Tinnitus
OMIM:615654	SIX1	6495	HP:0000365	Hearing impairment
OMIM:615654	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:615654	TECTA	7007	HP:0000360	Tinnitus
OMIM:615654	TECTA	7007	HP:0000365	Hearing impairment
OMIM:615654	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:615654	MYO1A	4640	HP:0000360	Tinnitus
OMIM:615654	MYO1A	4640	HP:0000365	Hearing impairment
OMIM:615654	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:615654	MYO1C	4641	HP:0000360	Tinnitus
OMIM:615654	MYO1C	4641	HP:0000365	Hearing impairment
OMIM:615654	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:615654	MYO6	4646	HP:0000360	Tinnitus
OMIM:615654	MYO6	4646	HP:0000365	Hearing impairment
OMIM:615654	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:615654	MYO7A	4647	HP:0000360	Tinnitus
OMIM:615654	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:615654	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:615654	GRHL2	79977	HP:0000360	Tinnitus
OMIM:615654	GRHL2	79977	HP:0000365	Hearing impairment
OMIM:615654	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:615654	DIABLO	56616	HP:0000360	Tinnitus
OMIM:615654	DIABLO	56616	HP:0000365	Hearing impairment
OMIM:615654	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:615654	MYH14	79784	HP:0000360	Tinnitus
OMIM:615654	MYH14	79784	HP:0000365	Hearing impairment
OMIM:615654	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:615654	P2RX2	22953	HP:0000360	Tinnitus
OMIM:615654	P2RX2	22953	HP:0000365	Hearing impairment
OMIM:615654	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:615654	WFS1	7466	HP:0000360	Tinnitus
OMIM:615654	WFS1	7466	HP:0000365	Hearing impairment
OMIM:615654	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:615654	TNC	3371	HP:0000360	Tinnitus
OMIM:615654	TNC	3371	HP:0000365	Hearing impairment
OMIM:615654	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:615654	KCNQ4	9132	HP:0000360	Tinnitus
OMIM:615654	KCNQ4	9132	HP:0000365	Hearing impairment
OMIM:615654	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:615654	HOMER2	9455	HP:0000360	Tinnitus
OMIM:615654	HOMER2	9455	HP:0000365	Hearing impairment
OMIM:615654	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:615654	GJB6	10804	HP:0000360	Tinnitus
OMIM:615654	GJB6	10804	HP:0000365	Hearing impairment
OMIM:615654	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:615654	TBC1D24	57465	HP:0000360	Tinnitus
OMIM:615654	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:615654	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:616294	P4HB	5034	HP:0000308	Microretrognathia
OMIM:616294	P4HB	5034	HP:0000316	Hypertelorism
OMIM:616294	P4HB	5034	HP:0004322	Short stature
OMIM:616294	P4HB	5034	HP:0000767	Pectus excavatum
OMIM:616294	P4HB	5034	HP:0002007	Frontal bossing
OMIM:616294	P4HB	5034	HP:0000218	High palate
OMIM:616294	P4HB	5034	HP:0000926	Platyspondyly
OMIM:616294	P4HB	5034	HP:0008897	Postnatal growth retardation
OMIM:616294	P4HB	5034	HP:0011800	Hypoplasia of midface
OMIM:616294	P4HB	5034	HP:0001620	High pitched voice
OMIM:616294	P4HB	5034	HP:0004440	Coronal craniosynostosis
OMIM:616294	P4HB	5034	HP:0000238	Hydrocephalus
OMIM:616294	P4HB	5034	HP:0000938	Osteopenia
OMIM:616294	P4HB	5034	HP:0000520	Proptosis
OMIM:616294	P4HB	5034	HP:0000592	Blue sclerae
OMIM:616294	P4HB	5034	HP:0001562	Oligohydramnios
OMIM:616294	P4HB	5034	HP:0004443	Lambdoidal craniosynostosis
OMIM:616294	P4HB	5034	HP:0000256	Macrocephaly
OMIM:616294	P4HB	5034	HP:0000325	Triangular face
OMIM:616294	P4HB	5034	HP:0000494	Downslanted palpebral fissures
OMIM:616294	SEC24D	9871	HP:0000308	Microretrognathia
OMIM:616294	SEC24D	9871	HP:0000316	Hypertelorism
OMIM:616294	SEC24D	9871	HP:0004322	Short stature
OMIM:616294	SEC24D	9871	HP:0000767	Pectus excavatum
OMIM:616294	SEC24D	9871	HP:0002007	Frontal bossing
OMIM:616294	SEC24D	9871	HP:0000218	High palate
OMIM:616294	SEC24D	9871	HP:0000926	Platyspondyly
OMIM:616294	SEC24D	9871	HP:0008897	Postnatal growth retardation
OMIM:616294	SEC24D	9871	HP:0011800	Hypoplasia of midface
OMIM:616294	SEC24D	9871	HP:0001620	High pitched voice
OMIM:616294	SEC24D	9871	HP:0004440	Coronal craniosynostosis
OMIM:616294	SEC24D	9871	HP:0000238	Hydrocephalus
OMIM:616294	SEC24D	9871	HP:0000938	Osteopenia
OMIM:616294	SEC24D	9871	HP:0000520	Proptosis
OMIM:616294	SEC24D	9871	HP:0000592	Blue sclerae
OMIM:616294	SEC24D	9871	HP:0001562	Oligohydramnios
OMIM:616294	SEC24D	9871	HP:0004443	Lambdoidal craniosynostosis
OMIM:616294	SEC24D	9871	HP:0000256	Macrocephaly
OMIM:616294	SEC24D	9871	HP:0000325	Triangular face
OMIM:616294	SEC24D	9871	HP:0000494	Downslanted palpebral fissures
OMIM:600962	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:268400	RECQL4	9401	HP:0000834	Abnormality of the adrenal glands
OMIM:268400	RECQL4	9401	HP:0002997	Abnormality of the ulna
OMIM:268400	RECQL4	9401	HP:0008069	Neoplasm of the skin
OMIM:268400	RECQL4	9401	HP:0000252	Microcephaly
OMIM:268400	RECQL4	9401	HP:0000508	Ptosis
OMIM:268400	RECQL4	9401	HP:0008070	Sparse hair
OMIM:268400	RECQL4	9401	HP:0006349	Agenesis of permanent teeth
OMIM:268400	RECQL4	9401	HP:0001374	Congenital hip dislocation
OMIM:268400	RECQL4	9401	HP:0002021	Pyloric stenosis
OMIM:268400	RECQL4	9401	HP:0000135	Hypogonadism
OMIM:268400	RECQL4	9401	HP:0000303	Mandibular prognathia
OMIM:268400	RECQL4	9401	HP:0000490	Deeply set eye
OMIM:268400	RECQL4	9401	HP:0000958	Dry skin
OMIM:268400	RECQL4	9401	HP:0000286	Epicanthus
OMIM:268400	RECQL4	9401	HP:0006443	Patellar aplasia
OMIM:268400	RECQL4	9401	HP:0000482	Microcornea
OMIM:268400	RECQL4	9401	HP:0005107	Abnormality of the sacrum
OMIM:268400	RECQL4	9401	HP:0100242	Sarcoma
OMIM:268400	RECQL4	9401	HP:0000992	Cutaneous photosensitivity
OMIM:268400	RECQL4	9401	HP:0002007	Frontal bossing
OMIM:268400	RECQL4	9401	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:268400	RECQL4	9401	HP:0000670	Carious teeth
OMIM:268400	RECQL4	9401	HP:0002804	Arthrogryposis multiplex congenita
OMIM:268400	RECQL4	9401	HP:0002216	Premature graying of hair
OMIM:268400	RECQL4	9401	HP:0001053	Hypopigmented skin patches
OMIM:268400	RECQL4	9401	HP:0000501	Glaucoma
OMIM:268400	RECQL4	9401	HP:0000347	Micrognathia
OMIM:268400	RECQL4	9401	HP:0100543	Cognitive impairment
OMIM:268400	RECQL4	9401	HP:0001231	Abnormality of the fingernails
OMIM:268400	RECQL4	9401	HP:0000028	Cryptorchidism
OMIM:268400	RECQL4	9401	HP:0001163	Abnormality of the metacarpal bones
OMIM:268400	RECQL4	9401	HP:0009804	Reduced number of teeth
OMIM:268400	RECQL4	9401	HP:0003272	Abnormality of the hip bone
OMIM:268400	RECQL4	9401	HP:0000684	Delayed eruption of teeth
OMIM:268400	RECQL4	9401	HP:0000322	Short philtrum
OMIM:268400	RECQL4	9401	HP:0000691	Microdontia
OMIM:268400	RECQL4	9401	HP:0008572	External ear malformation
OMIM:268400	RECQL4	9401	HP:0000007	Autosomal recessive inheritance
OMIM:268400	RECQL4	9401	HP:0000962	Hyperkeratosis
OMIM:268400	RECQL4	9401	HP:0001762	Talipes equinovarus
OMIM:268400	RECQL4	9401	HP:0100689	Decreased corneal thickness
OMIM:268400	RECQL4	9401	HP:0000407	Sensorineural hearing impairment
OMIM:268400	RECQL4	9401	HP:0001249	Intellectual disability
OMIM:268400	RECQL4	9401	HP:0002860	Squamous cell carcinoma
OMIM:268400	RECQL4	9401	HP:0004279	Short palm
OMIM:268400	RECQL4	9401	HP:0007400	Irregular hyperpigmentation
OMIM:268400	RECQL4	9401	HP:0000965	Cutis marmorata
OMIM:268400	RECQL4	9401	HP:0001903	Anemia
OMIM:268400	RECQL4	9401	HP:0000316	Hypertelorism
OMIM:268400	RECQL4	9401	HP:0004322	Short stature
OMIM:268400	RECQL4	9401	HP:0003196	Short nose
OMIM:268400	RECQL4	9401	HP:0001009	Telangiectasia
OMIM:268400	RECQL4	9401	HP:0200042	Skin ulcer
OMIM:268400	RECQL4	9401	HP:0001376	Limitation of joint mobility
OMIM:268400	RECQL4	9401	HP:0001382	Joint hypermobility
OMIM:268400	RECQL4	9401	HP:0000518	Cataract
OMIM:268400	RECQL4	9401	HP:0001596	Alopecia
OMIM:268400	RECQL4	9401	HP:0007759	Opacification of the corneal stroma
OMIM:268400	RECQL4	9401	HP:0004334	Dermal atrophy
OMIM:268400	RECQL4	9401	HP:0002751	Kyphoscoliosis
OMIM:268400	RECQL4	9401	HP:0001874	Abnormality of neutrophils
OMIM:268400	RECQL4	9401	HP:0001373	Joint dislocation
OMIM:268400	RECQL4	9401	HP:0001597	Abnormality of the nail
OMIM:268400	RECQL4	9401	HP:0001363	Craniosynostosis
OMIM:268400	RECQL4	9401	HP:0002024	Malabsorption
OMIM:268400	RECQL4	9401	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:268400	RECQL4	9401	HP:0011362	Abnormal hair quantity
OMIM:268400	RECQL4	9401	HP:0002109	Abnormality of the bronchi
OMIM:268400	RECQL4	9401	HP:0006753	Neoplasm of the stomach
OMIM:268400	RECQL4	9401	HP:0010701	Abnormal immunoglobulin level
OMIM:268400	RECQL4	9401	HP:0000486	Strabismus
OMIM:268400	RECQL4	9401	HP:0000939	Osteoporosis
OMIM:268400	RECQL4	9401	HP:0002863	Myelodysplasia
OMIM:268400	RECQL4	9401	HP:0002650	Scoliosis
OMIM:268400	RECQL4	9401	HP:0001773	Short foot
OMIM:268400	RECQL4	9401	HP:0002017	Nausea and vomiting
OMIM:268400	RECQL4	9401	HP:0002669	Osteosarcoma
OMIM:268400	RECQL4	9401	HP:0000112	Nephropathy
OMIM:268400	RECQL4	9401	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:268400	RECQL4	9401	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:268400	RECQL4	9401	HP:0009778	Short thumb
OMIM:268400	RECQL4	9401	HP:0000822	Hypertension
OMIM:268400	RECQL4	9401	HP:0000568	Microphthalmia
OMIM:268400	RECQL4	9401	HP:0200055	Small hand
OMIM:268400	RECQL4	9401	HP:0000202	Oral cleft
OMIM:268400	RECQL4	9401	HP:0004349	Reduced bone mineral density
OMIM:268400	RECQL4	9401	HP:0000078	Abnormality of the genital system
OMIM:146000	FGFR3	2261	HP:0002983	Micromelia
OMIM:146000	FGFR3	2261	HP:0009811	Abnormality of the elbow
OMIM:146000	FGFR3	2261	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:146000	FGFR3	2261	HP:0000272	Malar flattening
OMIM:146000	FGFR3	2261	HP:0003307	Hyperlordosis
OMIM:146000	FGFR3	2261	HP:0001382	Joint hypermobility
OMIM:146000	FGFR3	2261	HP:0000256	Macrocephaly
OMIM:146000	FGFR3	2261	HP:0001831	Short toe
OMIM:146000	FGFR3	2261	HP:0002970	Genu varum
OMIM:146000	FGFR3	2261	HP:0004322	Short stature
OMIM:146000	FGFR3	2261	HP:0002007	Frontal bossing
OMIM:146000	FGFR3	2261	HP:0001156	Brachydactyly syndrome
OMIM:146000	FGFR3	2261	HP:0003015	Flared metaphysis
OMIM:146000	FGFR3	2261	HP:0002652	Skeletal dysplasia
OMIM:146000	FGFR3	2261	HP:0003312	Abnormal form of the vertebral bodies
OMIM:146000	FGFR3	2261	HP:0009815	Aplasia/hypoplasia of the extremities
OMIM:146000	FGFR3	2261	HP:0002938	Lumbar hyperlordosis
OMIM:146000	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:146000	FGFR3	2261	HP:0002823	Abnormality of the femur
OMIM:146000	FGFR3	2261	HP:0002104	Apnea
OMIM:146000	FGFR3	2261	HP:0003026	Short long bone
OMIM:146000	FGFR3	2261	HP:0003416	Spinal canal stenosis
OMIM:146000	FGFR3	2261	HP:0001249	Intellectual disability
OMIM:146000	FGFR3	2261	HP:0100543	Cognitive impairment
OMIM:146000	FGFR3	2261	HP:0002758	Osteoarthritis
OMIM:146000	FGFR3	2261	HP:0002650	Scoliosis
OMIM:615524	RARB	5915	HP:0001629	Ventricular septal defect
OMIM:615524	RARB	5915	HP:0001249	Intellectual disability
OMIM:615524	RARB	5915	HP:0000528	Anophthalmia
OMIM:615524	RARB	5915	HP:0000568	Microphthalmia
OMIM:615524	RARB	5915	HP:0000278	Retrognathia
OMIM:615524	RARB	5915	HP:0000028	Cryptorchidism
OMIM:615524	RARB	5915	HP:0000776	Congenital diaphragmatic hernia
OMIM:615524	RARB	5915	HP:0000813	Bicornuate uterus
OMIM:615524	RARB	5915	HP:0000455	Broad nasal tip
OMIM:615524	RARB	5915	HP:0000006	Autosomal dominant inheritance
OMIM:615524	RARB	5915	HP:0000431	Wide nasal bridge
OMIM:615524	RARB	5915	HP:0000347	Micrognathia
OMIM:615524	RARB	5915	HP:0002089	Pulmonary hypoplasia
OMIM:615524	STRA6	64220	HP:0001629	Ventricular septal defect
OMIM:615524	STRA6	64220	HP:0001249	Intellectual disability
OMIM:615524	STRA6	64220	HP:0000528	Anophthalmia
OMIM:615524	STRA6	64220	HP:0000568	Microphthalmia
OMIM:615524	STRA6	64220	HP:0000278	Retrognathia
OMIM:615524	STRA6	64220	HP:0000028	Cryptorchidism
OMIM:615524	STRA6	64220	HP:0000776	Congenital diaphragmatic hernia
OMIM:615524	STRA6	64220	HP:0000813	Bicornuate uterus
OMIM:615524	STRA6	64220	HP:0000455	Broad nasal tip
OMIM:615524	STRA6	64220	HP:0000006	Autosomal dominant inheritance
OMIM:615524	STRA6	64220	HP:0000431	Wide nasal bridge
OMIM:615524	STRA6	64220	HP:0000347	Micrognathia
OMIM:615524	STRA6	64220	HP:0002089	Pulmonary hypoplasia
OMIM:607080	DHH	50846	HP:0001271	Polyneuropathy
OMIM:607080	DHH	50846	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:607080	DHH	50846	HP:0008668	Gonadal dysgenesis, male
OMIM:607080	DHH	50846	HP:0000133	Gonadal dysgenesis
OMIM:616287	ADCY6	112	HP:0001252	Muscular hypotonia
OMIM:616287	ADCY6	112	HP:0001284	Areflexia
OMIM:616287	ADCY6	112	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616287	CNTNAP1	8506	HP:0001252	Muscular hypotonia
OMIM:616287	CNTNAP1	8506	HP:0001284	Areflexia
OMIM:616287	CNTNAP1	8506	HP:0002804	Arthrogryposis multiplex congenita
OMIM:215700	ASS1	445	HP:0001263	Global developmental delay
OMIM:215700	ASS1	445	HP:0001254	Lethargy
OMIM:215700	ASS1	445	HP:0000737	Irritability
OMIM:215700	ASS1	445	HP:0001950	Respiratory alkalosis
OMIM:215700	ASS1	445	HP:0002038	Protein avoidance
OMIM:215700	ASS1	445	HP:0003812	Phenotypic variability
OMIM:215700	ASS1	445	HP:0003623	Neonatal onset
OMIM:215700	ASS1	445	HP:0003218	Oroticaciduria
OMIM:215700	ASS1	445	HP:0001259	Coma
OMIM:215700	ASS1	445	HP:0001297	Stroke
OMIM:215700	ASS1	445	HP:0003217	Hyperglutaminemia
OMIM:215700	ASS1	445	HP:0002013	Vomiting
OMIM:215700	ASS1	445	HP:0001251	Ataxia
OMIM:215700	ASS1	445	HP:0001508	Failure to thrive
OMIM:215700	ASS1	445	HP:0000007	Autosomal recessive inheritance
OMIM:215700	ASS1	445	HP:0001987	Hyperammonemia
OMIM:215700	ASS1	445	HP:0002181	Cerebral edema
OMIM:215700	ASS1	445	HP:0002240	Hepatomegaly
OMIM:215700	ASS1	445	HP:0001250	Seizures
OMIM:215700	ASS1	445	HP:0005961	Hypoargininemia
OMIM:215700	ASS1	445	HP:0001951	Episodic ammonia intoxication
OMIM:215700	ASS1	445	HP:0001249	Intellectual disability
OMIM:614422	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:614422	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:614422	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:614422	AGK	55750	HP:0000519	Congenital cataract
OMIM:614422	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:614422	CRYBB2	1415	HP:0000519	Congenital cataract
OMIM:614422	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:614422	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:614422	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:614422	MIP	4284	HP:0000519	Congenital cataract
OMIM:614422	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:614422	CRYGD	1421	HP:0000519	Congenital cataract
OMIM:614422	MAF	4094	HP:0000006	Autosomal dominant inheritance
OMIM:614422	MAF	4094	HP:0000519	Congenital cataract
OMIM:609192	TGFB2	7042	HP:0001425	Heterogeneous
OMIM:609192	TGFB2	7042	HP:0012385	Camptodactyly
OMIM:609192	TGFB2	7042	HP:0002650	Scoliosis
OMIM:609192	TGFB2	7042	HP:0001263	Global developmental delay
OMIM:609192	TGFB2	7042	HP:0000006	Autosomal dominant inheritance
OMIM:609192	TGFB2	7042	HP:0009473	Joint contracture of the hand
OMIM:609192	TGFB2	7042	HP:0001166	Arachnodactyly
OMIM:609192	TGFB2	7042	HP:0000520	Proptosis
OMIM:609192	TGFB2	7042	HP:0001643	Patent ductus arteriosus
OMIM:609192	TGFB2	7042	HP:0000272	Malar flattening
OMIM:609192	TGFB2	7042	HP:0002308	Arnold-Chiari malformation
OMIM:609192	TGFB2	7042	HP:0000766	Abnormality of the sternum
OMIM:609192	TGFB2	7042	HP:0000175	Cleft palate
OMIM:609192	TGFB2	7042	HP:0000592	Blue sclerae
OMIM:609192	TGFB2	7042	HP:0000316	Hypertelorism
OMIM:609192	TGFB2	7042	HP:0000238	Hydrocephalus
OMIM:609192	TGFB2	7042	HP:0001634	Mitral valve prolapse
OMIM:609192	TGFB2	7042	HP:0000193	Bifid uvula
OMIM:609192	TGFB2	7042	HP:0000347	Micrognathia
OMIM:609192	TGFB2	7042	HP:0001388	Joint laxity
OMIM:609192	TGFB2	7042	HP:0000278	Retrognathia
OMIM:609192	TGFB2	7042	HP:0001162	Postaxial hand polydactyly
OMIM:609192	TGFB2	7042	HP:0002631	Ascending aortic aneurysm
OMIM:609192	TGFB2	7042	HP:0004955	Generalized arterial tortuosity
OMIM:609192	TGFB2	7042	HP:0001631	Atria septal defect
OMIM:609192	TGFB2	7042	HP:0001363	Craniosynostosis
OMIM:609192	TGFB2	7042	HP:0000977	Soft skin
OMIM:609192	TGFB2	7042	HP:0001249	Intellectual disability
OMIM:609192	TGFB2	7042	HP:0001647	Bicuspid aortic valve
OMIM:609192	TGFB2	7042	HP:0000577	Exotropia
OMIM:609192	TGFB2	7042	HP:0001762	Talipes equinovarus
OMIM:609192	TGFB2	7042	HP:0004937	Pulmonary artery aneurysm
OMIM:609192	MYH11	4629	HP:0001425	Heterogeneous
OMIM:609192	MYH11	4629	HP:0012385	Camptodactyly
OMIM:609192	MYH11	4629	HP:0002650	Scoliosis
OMIM:609192	MYH11	4629	HP:0001263	Global developmental delay
OMIM:609192	MYH11	4629	HP:0000006	Autosomal dominant inheritance
OMIM:609192	MYH11	4629	HP:0009473	Joint contracture of the hand
OMIM:609192	MYH11	4629	HP:0001166	Arachnodactyly
OMIM:609192	MYH11	4629	HP:0000520	Proptosis
OMIM:609192	MYH11	4629	HP:0001643	Patent ductus arteriosus
OMIM:609192	MYH11	4629	HP:0000272	Malar flattening
OMIM:609192	MYH11	4629	HP:0002308	Arnold-Chiari malformation
OMIM:609192	MYH11	4629	HP:0000766	Abnormality of the sternum
OMIM:609192	MYH11	4629	HP:0000175	Cleft palate
OMIM:609192	MYH11	4629	HP:0000592	Blue sclerae
OMIM:609192	MYH11	4629	HP:0000316	Hypertelorism
OMIM:609192	MYH11	4629	HP:0000238	Hydrocephalus
OMIM:609192	MYH11	4629	HP:0001634	Mitral valve prolapse
OMIM:609192	MYH11	4629	HP:0000193	Bifid uvula
OMIM:609192	MYH11	4629	HP:0000347	Micrognathia
OMIM:609192	MYH11	4629	HP:0001388	Joint laxity
OMIM:609192	MYH11	4629	HP:0000278	Retrognathia
OMIM:609192	MYH11	4629	HP:0001162	Postaxial hand polydactyly
OMIM:609192	MYH11	4629	HP:0002631	Ascending aortic aneurysm
OMIM:609192	MYH11	4629	HP:0004955	Generalized arterial tortuosity
OMIM:609192	MYH11	4629	HP:0001631	Atria septal defect
OMIM:609192	MYH11	4629	HP:0001363	Craniosynostosis
OMIM:609192	MYH11	4629	HP:0000977	Soft skin
OMIM:609192	MYH11	4629	HP:0001249	Intellectual disability
OMIM:609192	MYH11	4629	HP:0001647	Bicuspid aortic valve
OMIM:609192	MYH11	4629	HP:0000577	Exotropia
OMIM:609192	MYH11	4629	HP:0001762	Talipes equinovarus
OMIM:609192	MYH11	4629	HP:0004937	Pulmonary artery aneurysm
OMIM:609192	TGFBR1	7046	HP:0001425	Heterogeneous
OMIM:609192	TGFBR1	7046	HP:0012385	Camptodactyly
OMIM:609192	TGFBR1	7046	HP:0002650	Scoliosis
OMIM:609192	TGFBR1	7046	HP:0001263	Global developmental delay
OMIM:609192	TGFBR1	7046	HP:0000006	Autosomal dominant inheritance
OMIM:609192	TGFBR1	7046	HP:0009473	Joint contracture of the hand
OMIM:609192	TGFBR1	7046	HP:0001166	Arachnodactyly
OMIM:609192	TGFBR1	7046	HP:0000520	Proptosis
OMIM:609192	TGFBR1	7046	HP:0001643	Patent ductus arteriosus
OMIM:609192	TGFBR1	7046	HP:0000272	Malar flattening
OMIM:609192	TGFBR1	7046	HP:0002308	Arnold-Chiari malformation
OMIM:609192	TGFBR1	7046	HP:0000766	Abnormality of the sternum
OMIM:609192	TGFBR1	7046	HP:0000175	Cleft palate
OMIM:609192	TGFBR1	7046	HP:0000592	Blue sclerae
OMIM:609192	TGFBR1	7046	HP:0000316	Hypertelorism
OMIM:609192	TGFBR1	7046	HP:0000238	Hydrocephalus
OMIM:609192	TGFBR1	7046	HP:0001634	Mitral valve prolapse
OMIM:609192	TGFBR1	7046	HP:0000193	Bifid uvula
OMIM:609192	TGFBR1	7046	HP:0000347	Micrognathia
OMIM:609192	TGFBR1	7046	HP:0001388	Joint laxity
OMIM:609192	TGFBR1	7046	HP:0000278	Retrognathia
OMIM:609192	TGFBR1	7046	HP:0001162	Postaxial hand polydactyly
OMIM:609192	TGFBR1	7046	HP:0002631	Ascending aortic aneurysm
OMIM:609192	TGFBR1	7046	HP:0004955	Generalized arterial tortuosity
OMIM:609192	TGFBR1	7046	HP:0001631	Atria septal defect
OMIM:609192	TGFBR1	7046	HP:0001363	Craniosynostosis
OMIM:609192	TGFBR1	7046	HP:0000977	Soft skin
OMIM:609192	TGFBR1	7046	HP:0001249	Intellectual disability
OMIM:609192	TGFBR1	7046	HP:0001647	Bicuspid aortic valve
OMIM:609192	TGFBR1	7046	HP:0000577	Exotropia
OMIM:609192	TGFBR1	7046	HP:0001762	Talipes equinovarus
OMIM:609192	TGFBR1	7046	HP:0004937	Pulmonary artery aneurysm
OMIM:609192	TGFBR2	7048	HP:0001425	Heterogeneous
OMIM:609192	TGFBR2	7048	HP:0012385	Camptodactyly
OMIM:609192	TGFBR2	7048	HP:0002650	Scoliosis
OMIM:609192	TGFBR2	7048	HP:0001263	Global developmental delay
OMIM:609192	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:609192	TGFBR2	7048	HP:0009473	Joint contracture of the hand
OMIM:609192	TGFBR2	7048	HP:0001166	Arachnodactyly
OMIM:609192	TGFBR2	7048	HP:0000520	Proptosis
OMIM:609192	TGFBR2	7048	HP:0001643	Patent ductus arteriosus
OMIM:609192	TGFBR2	7048	HP:0000272	Malar flattening
OMIM:609192	TGFBR2	7048	HP:0002308	Arnold-Chiari malformation
OMIM:609192	TGFBR2	7048	HP:0000766	Abnormality of the sternum
OMIM:609192	TGFBR2	7048	HP:0000175	Cleft palate
OMIM:609192	TGFBR2	7048	HP:0000592	Blue sclerae
OMIM:609192	TGFBR2	7048	HP:0000316	Hypertelorism
OMIM:609192	TGFBR2	7048	HP:0000238	Hydrocephalus
OMIM:609192	TGFBR2	7048	HP:0001634	Mitral valve prolapse
OMIM:609192	TGFBR2	7048	HP:0000193	Bifid uvula
OMIM:609192	TGFBR2	7048	HP:0000347	Micrognathia
OMIM:609192	TGFBR2	7048	HP:0001388	Joint laxity
OMIM:609192	TGFBR2	7048	HP:0000278	Retrognathia
OMIM:609192	TGFBR2	7048	HP:0001162	Postaxial hand polydactyly
OMIM:609192	TGFBR2	7048	HP:0002631	Ascending aortic aneurysm
OMIM:609192	TGFBR2	7048	HP:0004955	Generalized arterial tortuosity
OMIM:609192	TGFBR2	7048	HP:0001631	Atria septal defect
OMIM:609192	TGFBR2	7048	HP:0001363	Craniosynostosis
OMIM:609192	TGFBR2	7048	HP:0000977	Soft skin
OMIM:609192	TGFBR2	7048	HP:0001249	Intellectual disability
OMIM:609192	TGFBR2	7048	HP:0001647	Bicuspid aortic valve
OMIM:609192	TGFBR2	7048	HP:0000577	Exotropia
OMIM:609192	TGFBR2	7048	HP:0001762	Talipes equinovarus
OMIM:609192	TGFBR2	7048	HP:0004937	Pulmonary artery aneurysm
OMIM:609192	FBN1	2200	HP:0001425	Heterogeneous
OMIM:609192	FBN1	2200	HP:0012385	Camptodactyly
OMIM:609192	FBN1	2200	HP:0002650	Scoliosis
OMIM:609192	FBN1	2200	HP:0001263	Global developmental delay
OMIM:609192	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:609192	FBN1	2200	HP:0009473	Joint contracture of the hand
OMIM:609192	FBN1	2200	HP:0001166	Arachnodactyly
OMIM:609192	FBN1	2200	HP:0000520	Proptosis
OMIM:609192	FBN1	2200	HP:0001643	Patent ductus arteriosus
OMIM:609192	FBN1	2200	HP:0000272	Malar flattening
OMIM:609192	FBN1	2200	HP:0002308	Arnold-Chiari malformation
OMIM:609192	FBN1	2200	HP:0000766	Abnormality of the sternum
OMIM:609192	FBN1	2200	HP:0000175	Cleft palate
OMIM:609192	FBN1	2200	HP:0000592	Blue sclerae
OMIM:609192	FBN1	2200	HP:0000316	Hypertelorism
OMIM:609192	FBN1	2200	HP:0000238	Hydrocephalus
OMIM:609192	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:609192	FBN1	2200	HP:0000193	Bifid uvula
OMIM:609192	FBN1	2200	HP:0000347	Micrognathia
OMIM:609192	FBN1	2200	HP:0001388	Joint laxity
OMIM:609192	FBN1	2200	HP:0000278	Retrognathia
OMIM:609192	FBN1	2200	HP:0001162	Postaxial hand polydactyly
OMIM:609192	FBN1	2200	HP:0002631	Ascending aortic aneurysm
OMIM:609192	FBN1	2200	HP:0004955	Generalized arterial tortuosity
OMIM:609192	FBN1	2200	HP:0001631	Atria septal defect
OMIM:609192	FBN1	2200	HP:0001363	Craniosynostosis
OMIM:609192	FBN1	2200	HP:0000977	Soft skin
OMIM:609192	FBN1	2200	HP:0001249	Intellectual disability
OMIM:609192	FBN1	2200	HP:0001647	Bicuspid aortic valve
OMIM:609192	FBN1	2200	HP:0000577	Exotropia
OMIM:609192	FBN1	2200	HP:0001762	Talipes equinovarus
OMIM:609192	FBN1	2200	HP:0004937	Pulmonary artery aneurysm
OMIM:609192	SMAD3	4088	HP:0001425	Heterogeneous
OMIM:609192	SMAD3	4088	HP:0012385	Camptodactyly
OMIM:609192	SMAD3	4088	HP:0002650	Scoliosis
OMIM:609192	SMAD3	4088	HP:0001263	Global developmental delay
OMIM:609192	SMAD3	4088	HP:0000006	Autosomal dominant inheritance
OMIM:609192	SMAD3	4088	HP:0009473	Joint contracture of the hand
OMIM:609192	SMAD3	4088	HP:0001166	Arachnodactyly
OMIM:609192	SMAD3	4088	HP:0000520	Proptosis
OMIM:609192	SMAD3	4088	HP:0001643	Patent ductus arteriosus
OMIM:609192	SMAD3	4088	HP:0000272	Malar flattening
OMIM:609192	SMAD3	4088	HP:0002308	Arnold-Chiari malformation
OMIM:609192	SMAD3	4088	HP:0000766	Abnormality of the sternum
OMIM:609192	SMAD3	4088	HP:0000175	Cleft palate
OMIM:609192	SMAD3	4088	HP:0000592	Blue sclerae
OMIM:609192	SMAD3	4088	HP:0000316	Hypertelorism
OMIM:609192	SMAD3	4088	HP:0000238	Hydrocephalus
OMIM:609192	SMAD3	4088	HP:0001634	Mitral valve prolapse
OMIM:609192	SMAD3	4088	HP:0000193	Bifid uvula
OMIM:609192	SMAD3	4088	HP:0000347	Micrognathia
OMIM:609192	SMAD3	4088	HP:0001388	Joint laxity
OMIM:609192	SMAD3	4088	HP:0000278	Retrognathia
OMIM:609192	SMAD3	4088	HP:0001162	Postaxial hand polydactyly
OMIM:609192	SMAD3	4088	HP:0002631	Ascending aortic aneurysm
OMIM:609192	SMAD3	4088	HP:0004955	Generalized arterial tortuosity
OMIM:609192	SMAD3	4088	HP:0001631	Atria septal defect
OMIM:609192	SMAD3	4088	HP:0001363	Craniosynostosis
OMIM:609192	SMAD3	4088	HP:0000977	Soft skin
OMIM:609192	SMAD3	4088	HP:0001249	Intellectual disability
OMIM:609192	SMAD3	4088	HP:0001647	Bicuspid aortic valve
OMIM:609192	SMAD3	4088	HP:0000577	Exotropia
OMIM:609192	SMAD3	4088	HP:0001762	Talipes equinovarus
OMIM:609192	SMAD3	4088	HP:0004937	Pulmonary artery aneurysm
OMIM:609192	PRKG1	5592	HP:0001425	Heterogeneous
OMIM:609192	PRKG1	5592	HP:0012385	Camptodactyly
OMIM:609192	PRKG1	5592	HP:0002650	Scoliosis
OMIM:609192	PRKG1	5592	HP:0001263	Global developmental delay
OMIM:609192	PRKG1	5592	HP:0000006	Autosomal dominant inheritance
OMIM:609192	PRKG1	5592	HP:0009473	Joint contracture of the hand
OMIM:609192	PRKG1	5592	HP:0001166	Arachnodactyly
OMIM:609192	PRKG1	5592	HP:0000520	Proptosis
OMIM:609192	PRKG1	5592	HP:0001643	Patent ductus arteriosus
OMIM:609192	PRKG1	5592	HP:0000272	Malar flattening
OMIM:609192	PRKG1	5592	HP:0002308	Arnold-Chiari malformation
OMIM:609192	PRKG1	5592	HP:0000766	Abnormality of the sternum
OMIM:609192	PRKG1	5592	HP:0000175	Cleft palate
OMIM:609192	PRKG1	5592	HP:0000592	Blue sclerae
OMIM:609192	PRKG1	5592	HP:0000316	Hypertelorism
OMIM:609192	PRKG1	5592	HP:0000238	Hydrocephalus
OMIM:609192	PRKG1	5592	HP:0001634	Mitral valve prolapse
OMIM:609192	PRKG1	5592	HP:0000193	Bifid uvula
OMIM:609192	PRKG1	5592	HP:0000347	Micrognathia
OMIM:609192	PRKG1	5592	HP:0001388	Joint laxity
OMIM:609192	PRKG1	5592	HP:0000278	Retrognathia
OMIM:609192	PRKG1	5592	HP:0001162	Postaxial hand polydactyly
OMIM:609192	PRKG1	5592	HP:0002631	Ascending aortic aneurysm
OMIM:609192	PRKG1	5592	HP:0004955	Generalized arterial tortuosity
OMIM:609192	PRKG1	5592	HP:0001631	Atria septal defect
OMIM:609192	PRKG1	5592	HP:0001363	Craniosynostosis
OMIM:609192	PRKG1	5592	HP:0000977	Soft skin
OMIM:609192	PRKG1	5592	HP:0001249	Intellectual disability
OMIM:609192	PRKG1	5592	HP:0001647	Bicuspid aortic valve
OMIM:609192	PRKG1	5592	HP:0000577	Exotropia
OMIM:609192	PRKG1	5592	HP:0001762	Talipes equinovarus
OMIM:609192	PRKG1	5592	HP:0004937	Pulmonary artery aneurysm
OMIM:609192	ACTA2	59	HP:0001425	Heterogeneous
OMIM:609192	ACTA2	59	HP:0012385	Camptodactyly
OMIM:609192	ACTA2	59	HP:0002650	Scoliosis
OMIM:609192	ACTA2	59	HP:0001263	Global developmental delay
OMIM:609192	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:609192	ACTA2	59	HP:0009473	Joint contracture of the hand
OMIM:609192	ACTA2	59	HP:0001166	Arachnodactyly
OMIM:609192	ACTA2	59	HP:0000520	Proptosis
OMIM:609192	ACTA2	59	HP:0001643	Patent ductus arteriosus
OMIM:609192	ACTA2	59	HP:0000272	Malar flattening
OMIM:609192	ACTA2	59	HP:0002308	Arnold-Chiari malformation
OMIM:609192	ACTA2	59	HP:0000766	Abnormality of the sternum
OMIM:609192	ACTA2	59	HP:0000175	Cleft palate
OMIM:609192	ACTA2	59	HP:0000592	Blue sclerae
OMIM:609192	ACTA2	59	HP:0000316	Hypertelorism
OMIM:609192	ACTA2	59	HP:0000238	Hydrocephalus
OMIM:609192	ACTA2	59	HP:0001634	Mitral valve prolapse
OMIM:609192	ACTA2	59	HP:0000193	Bifid uvula
OMIM:609192	ACTA2	59	HP:0000347	Micrognathia
OMIM:609192	ACTA2	59	HP:0001388	Joint laxity
OMIM:609192	ACTA2	59	HP:0000278	Retrognathia
OMIM:609192	ACTA2	59	HP:0001162	Postaxial hand polydactyly
OMIM:609192	ACTA2	59	HP:0002631	Ascending aortic aneurysm
OMIM:609192	ACTA2	59	HP:0004955	Generalized arterial tortuosity
OMIM:609192	ACTA2	59	HP:0001631	Atria septal defect
OMIM:609192	ACTA2	59	HP:0001363	Craniosynostosis
OMIM:609192	ACTA2	59	HP:0000977	Soft skin
OMIM:609192	ACTA2	59	HP:0001249	Intellectual disability
OMIM:609192	ACTA2	59	HP:0001647	Bicuspid aortic valve
OMIM:609192	ACTA2	59	HP:0000577	Exotropia
OMIM:609192	ACTA2	59	HP:0001762	Talipes equinovarus
OMIM:609192	ACTA2	59	HP:0004937	Pulmonary artery aneurysm
OMIM:609192	MFAP5	8076	HP:0001425	Heterogeneous
OMIM:609192	MFAP5	8076	HP:0012385	Camptodactyly
OMIM:609192	MFAP5	8076	HP:0002650	Scoliosis
OMIM:609192	MFAP5	8076	HP:0001263	Global developmental delay
OMIM:609192	MFAP5	8076	HP:0000006	Autosomal dominant inheritance
OMIM:609192	MFAP5	8076	HP:0009473	Joint contracture of the hand
OMIM:609192	MFAP5	8076	HP:0001166	Arachnodactyly
OMIM:609192	MFAP5	8076	HP:0000520	Proptosis
OMIM:609192	MFAP5	8076	HP:0001643	Patent ductus arteriosus
OMIM:609192	MFAP5	8076	HP:0000272	Malar flattening
OMIM:609192	MFAP5	8076	HP:0002308	Arnold-Chiari malformation
OMIM:609192	MFAP5	8076	HP:0000766	Abnormality of the sternum
OMIM:609192	MFAP5	8076	HP:0000175	Cleft palate
OMIM:609192	MFAP5	8076	HP:0000592	Blue sclerae
OMIM:609192	MFAP5	8076	HP:0000316	Hypertelorism
OMIM:609192	MFAP5	8076	HP:0000238	Hydrocephalus
OMIM:609192	MFAP5	8076	HP:0001634	Mitral valve prolapse
OMIM:609192	MFAP5	8076	HP:0000193	Bifid uvula
OMIM:609192	MFAP5	8076	HP:0000347	Micrognathia
OMIM:609192	MFAP5	8076	HP:0001388	Joint laxity
OMIM:609192	MFAP5	8076	HP:0000278	Retrognathia
OMIM:609192	MFAP5	8076	HP:0001162	Postaxial hand polydactyly
OMIM:609192	MFAP5	8076	HP:0002631	Ascending aortic aneurysm
OMIM:609192	MFAP5	8076	HP:0004955	Generalized arterial tortuosity
OMIM:609192	MFAP5	8076	HP:0001631	Atria septal defect
OMIM:609192	MFAP5	8076	HP:0001363	Craniosynostosis
OMIM:609192	MFAP5	8076	HP:0000977	Soft skin
OMIM:609192	MFAP5	8076	HP:0001249	Intellectual disability
OMIM:609192	MFAP5	8076	HP:0001647	Bicuspid aortic valve
OMIM:609192	MFAP5	8076	HP:0000577	Exotropia
OMIM:609192	MFAP5	8076	HP:0001762	Talipes equinovarus
OMIM:609192	MFAP5	8076	HP:0004937	Pulmonary artery aneurysm
OMIM:609192	MYLK	4638	HP:0001425	Heterogeneous
OMIM:609192	MYLK	4638	HP:0012385	Camptodactyly
OMIM:609192	MYLK	4638	HP:0002650	Scoliosis
OMIM:609192	MYLK	4638	HP:0001263	Global developmental delay
OMIM:609192	MYLK	4638	HP:0000006	Autosomal dominant inheritance
OMIM:609192	MYLK	4638	HP:0009473	Joint contracture of the hand
OMIM:609192	MYLK	4638	HP:0001166	Arachnodactyly
OMIM:609192	MYLK	4638	HP:0000520	Proptosis
OMIM:609192	MYLK	4638	HP:0001643	Patent ductus arteriosus
OMIM:609192	MYLK	4638	HP:0000272	Malar flattening
OMIM:609192	MYLK	4638	HP:0002308	Arnold-Chiari malformation
OMIM:609192	MYLK	4638	HP:0000766	Abnormality of the sternum
OMIM:609192	MYLK	4638	HP:0000175	Cleft palate
OMIM:609192	MYLK	4638	HP:0000592	Blue sclerae
OMIM:609192	MYLK	4638	HP:0000316	Hypertelorism
OMIM:609192	MYLK	4638	HP:0000238	Hydrocephalus
OMIM:609192	MYLK	4638	HP:0001634	Mitral valve prolapse
OMIM:609192	MYLK	4638	HP:0000193	Bifid uvula
OMIM:609192	MYLK	4638	HP:0000347	Micrognathia
OMIM:609192	MYLK	4638	HP:0001388	Joint laxity
OMIM:609192	MYLK	4638	HP:0000278	Retrognathia
OMIM:609192	MYLK	4638	HP:0001162	Postaxial hand polydactyly
OMIM:609192	MYLK	4638	HP:0002631	Ascending aortic aneurysm
OMIM:609192	MYLK	4638	HP:0004955	Generalized arterial tortuosity
OMIM:609192	MYLK	4638	HP:0001631	Atria septal defect
OMIM:609192	MYLK	4638	HP:0001363	Craniosynostosis
OMIM:609192	MYLK	4638	HP:0000977	Soft skin
OMIM:609192	MYLK	4638	HP:0001249	Intellectual disability
OMIM:609192	MYLK	4638	HP:0001647	Bicuspid aortic valve
OMIM:609192	MYLK	4638	HP:0000577	Exotropia
OMIM:609192	MYLK	4638	HP:0001762	Talipes equinovarus
OMIM:609192	MYLK	4638	HP:0004937	Pulmonary artery aneurysm
OMIM:168500	ALX4	60529	HP:0001425	Heterogeneous
OMIM:168500	ALX4	60529	HP:0002697	Parietal foramina
OMIM:168500	ALX4	60529	HP:0002084	Encephalocele
OMIM:168500	ALX4	60529	HP:0000175	Cleft palate
OMIM:168500	ALX4	60529	HP:0000204	Cleft upper lip
OMIM:168500	ALX4	60529	HP:0001250	Seizures
OMIM:168500	ALX4	60529	HP:0002315	Headache
OMIM:168500	ALX4	60529	HP:0007385	Aplasia cutis congenita of scalp
OMIM:168500	ALX4	60529	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:168500	ALX4	60529	HP:0000006	Autosomal dominant inheritance
OMIM:168500	MSX2	4488	HP:0001425	Heterogeneous
OMIM:168500	MSX2	4488	HP:0002697	Parietal foramina
OMIM:168500	MSX2	4488	HP:0002084	Encephalocele
OMIM:168500	MSX2	4488	HP:0000175	Cleft palate
OMIM:168500	MSX2	4488	HP:0000204	Cleft upper lip
OMIM:168500	MSX2	4488	HP:0001250	Seizures
OMIM:168500	MSX2	4488	HP:0002315	Headache
OMIM:168500	MSX2	4488	HP:0007385	Aplasia cutis congenita of scalp
OMIM:168500	MSX2	4488	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:168500	MSX2	4488	HP:0000006	Autosomal dominant inheritance
OMIM:220400	KCNQ1	3784	HP:0001664	Torsade de pointes
OMIM:220400	KCNQ1	3784	HP:0001279	Syncope
OMIM:220400	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:220400	KCNQ1	3784	HP:0000007	Autosomal recessive inheritance
OMIM:220400	KCNQ1	3784	HP:0008527	Congenital sensorineural hearing impairment
OMIM:220400	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:220400	KCNE1	3753	HP:0001664	Torsade de pointes
OMIM:220400	KCNE1	3753	HP:0001279	Syncope
OMIM:220400	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:220400	KCNE1	3753	HP:0000007	Autosomal recessive inheritance
OMIM:220400	KCNE1	3753	HP:0008527	Congenital sensorineural hearing impairment
OMIM:220400	KCNE1	3753	HP:0001645	Sudden cardiac death
OMIM:612926	THBD	7056	HP:0003138	Increased blood urea nitrogen (BUN)
OMIM:612926	THBD	7056	HP:0001919	Acute kidney injury
OMIM:612926	THBD	7056	HP:0005575	Hemolytic-uremic syndrome
OMIM:612926	THBD	7056	HP:0000006	Autosomal dominant inheritance
OMIM:612926	THBD	7056	HP:0000822	Hypertension
OMIM:612926	THBD	7056	HP:0001873	Thrombocytopenia
OMIM:612926	THBD	7056	HP:0000790	Hematuria
OMIM:612926	THBD	7056	HP:0100519	Anuria
OMIM:612926	THBD	7056	HP:0003259	Elevated serum creatinine
OMIM:612926	THBD	7056	HP:0001937	Microangiopathic hemolytic anemia
OMIM:612926	THBD	7056	HP:0000093	Proteinuria
OMIM:204700	SLC24A4	123041	HP:0000007	Autosomal recessive inheritance
OMIM:204700	SLC24A4	123041	HP:0000670	Carious teeth
OMIM:204700	MMP20	9313	HP:0000007	Autosomal recessive inheritance
OMIM:204700	MMP20	9313	HP:0000670	Carious teeth
OMIM:204700	C4ORF26	152816	HP:0000007	Autosomal recessive inheritance
OMIM:204700	C4ORF26	152816	HP:0000670	Carious teeth
OMIM:204700	KLK4	9622	HP:0000007	Autosomal recessive inheritance
OMIM:204700	KLK4	9622	HP:0000670	Carious teeth
OMIM:204700	AMELX	265	HP:0000007	Autosomal recessive inheritance
OMIM:204700	AMELX	265	HP:0000670	Carious teeth
OMIM:204700	WDR72	256764	HP:0000007	Autosomal recessive inheritance
OMIM:204700	WDR72	256764	HP:0000670	Carious teeth
OMIM:616286	ADCY6	112	HP:0000347	Micrognathia
OMIM:616286	ADCY6	112	HP:0001561	Polyhydramnios
OMIM:616286	ADCY6	112	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616286	ADCY6	112	HP:0001284	Areflexia
OMIM:616286	ADCY6	112	HP:0006380	Knee flexion contracture
OMIM:616286	ADCY6	112	HP:0001252	Muscular hypotonia
OMIM:616286	CNTNAP1	8506	HP:0000347	Micrognathia
OMIM:616286	CNTNAP1	8506	HP:0001561	Polyhydramnios
OMIM:616286	CNTNAP1	8506	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616286	CNTNAP1	8506	HP:0001284	Areflexia
OMIM:616286	CNTNAP1	8506	HP:0006380	Knee flexion contracture
OMIM:616286	CNTNAP1	8506	HP:0001252	Muscular hypotonia
OMIM:613912	CFD	1675	HP:0003828	Variable expressivity
OMIM:613912	CFD	1675	HP:0002718	Recurrent bacterial infections
OMIM:613912	CFD	1675	HP:0000007	Autosomal recessive inheritance
OMIM:613912	CFD	1675	HP:0004431	Complement deficiency
OMIM:243910	ZNF423	23090	HP:0002436	Occipital meningocele
OMIM:243910	ZNF423	23090	HP:0001397	Hepatic steatosis
OMIM:243910	ZNF423	23090	HP:0002365	Hypoplasia of the brainstem
OMIM:243910	ZNF423	23090	HP:0000556	Retinal dystrophy
OMIM:243910	ZNF423	23090	HP:0000618	Blindness
OMIM:243910	ZNF423	23090	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:243910	ZNF423	23090	HP:0000007	Autosomal recessive inheritance
OMIM:243910	ZNF423	23090	HP:0000113	Polycystic kidney dysplasia
OMIM:243910	ZNF423	23090	HP:0000567	Chorioretinal coloboma
OMIM:243910	ZNF423	23090	HP:0001263	Global developmental delay
OMIM:243910	ZNF423	23090	HP:0003774	Stage 5 chronic kidney disease
OMIM:243910	ZNF423	23090	HP:0002198	Dilated fourth ventricle
OMIM:243910	ZNF423	23090	HP:0001252	Muscular hypotonia
OMIM:243910	ZNF423	23090	HP:0002094	Dyspnea
OMIM:243910	ZNF423	23090	HP:0000090	Nephronophthisis
OMIM:243910	ZNF423	23090	HP:0001162	Postaxial hand polydactyly
OMIM:243910	ZNF423	23090	HP:0002419	Molar tooth sign on MRI
OMIM:243910	ZNF423	23090	HP:0002789	Tachypnea
OMIM:243910	ZNF423	23090	HP:0000639	Nystagmus
OMIM:243910	ZNF423	23090	HP:0006887	Intellectual disability, progressive
OMIM:243910	ZNF423	23090	HP:0002282	Heterotopia
OMIM:243910	ZNF423	23090	HP:0010864	Intellectual disability, severe
OMIM:243910	ZNF423	23090	HP:0002508	Brainstem dysplasia
OMIM:243910	ZNF423	23090	HP:0000508	Ptosis
OMIM:243910	ZNF423	23090	HP:0000154	Wide mouth
OMIM:243910	ZNF423	23090	HP:0000550	Undetectable electroretinogram
OMIM:243910	ZNF423	23090	HP:0002335	Agenesis of cerebellar vermis
OMIM:243910	ZNF423	23090	HP:0002240	Hepatomegaly
OMIM:243910	ZNF423	23090	HP:0001251	Ataxia
OMIM:243910	ZNF423	23090	HP:0001395	Hepatic fibrosis
OMIM:243910	TMEM138	51524	HP:0002436	Occipital meningocele
OMIM:243910	TMEM138	51524	HP:0001397	Hepatic steatosis
OMIM:243910	TMEM138	51524	HP:0002365	Hypoplasia of the brainstem
OMIM:243910	TMEM138	51524	HP:0000556	Retinal dystrophy
OMIM:243910	TMEM138	51524	HP:0000618	Blindness
OMIM:243910	TMEM138	51524	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:243910	TMEM138	51524	HP:0000007	Autosomal recessive inheritance
OMIM:243910	TMEM138	51524	HP:0000113	Polycystic kidney dysplasia
OMIM:243910	TMEM138	51524	HP:0000567	Chorioretinal coloboma
OMIM:243910	TMEM138	51524	HP:0001263	Global developmental delay
OMIM:243910	TMEM138	51524	HP:0003774	Stage 5 chronic kidney disease
OMIM:243910	TMEM138	51524	HP:0002198	Dilated fourth ventricle
OMIM:243910	TMEM138	51524	HP:0001252	Muscular hypotonia
OMIM:243910	TMEM138	51524	HP:0002094	Dyspnea
OMIM:243910	TMEM138	51524	HP:0000090	Nephronophthisis
OMIM:243910	TMEM138	51524	HP:0001162	Postaxial hand polydactyly
OMIM:243910	TMEM138	51524	HP:0002419	Molar tooth sign on MRI
OMIM:243910	TMEM138	51524	HP:0002789	Tachypnea
OMIM:243910	TMEM138	51524	HP:0000639	Nystagmus
OMIM:243910	TMEM138	51524	HP:0006887	Intellectual disability, progressive
OMIM:243910	TMEM138	51524	HP:0002282	Heterotopia
OMIM:243910	TMEM138	51524	HP:0010864	Intellectual disability, severe
OMIM:243910	TMEM138	51524	HP:0002508	Brainstem dysplasia
OMIM:243910	TMEM138	51524	HP:0000508	Ptosis
OMIM:243910	TMEM138	51524	HP:0000154	Wide mouth
OMIM:243910	TMEM138	51524	HP:0000550	Undetectable electroretinogram
OMIM:243910	TMEM138	51524	HP:0002335	Agenesis of cerebellar vermis
OMIM:243910	TMEM138	51524	HP:0002240	Hepatomegaly
OMIM:243910	TMEM138	51524	HP:0001251	Ataxia
OMIM:243910	TMEM138	51524	HP:0001395	Hepatic fibrosis
OMIM:243910	TMEM237	65062	HP:0002436	Occipital meningocele
OMIM:243910	TMEM237	65062	HP:0001397	Hepatic steatosis
OMIM:243910	TMEM237	65062	HP:0002365	Hypoplasia of the brainstem
OMIM:243910	TMEM237	65062	HP:0000556	Retinal dystrophy
OMIM:243910	TMEM237	65062	HP:0000618	Blindness
OMIM:243910	TMEM237	65062	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:243910	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:243910	TMEM237	65062	HP:0000113	Polycystic kidney dysplasia
OMIM:243910	TMEM237	65062	HP:0000567	Chorioretinal coloboma
OMIM:243910	TMEM237	65062	HP:0001263	Global developmental delay
OMIM:243910	TMEM237	65062	HP:0003774	Stage 5 chronic kidney disease
OMIM:243910	TMEM237	65062	HP:0002198	Dilated fourth ventricle
OMIM:243910	TMEM237	65062	HP:0001252	Muscular hypotonia
OMIM:243910	TMEM237	65062	HP:0002094	Dyspnea
OMIM:243910	TMEM237	65062	HP:0000090	Nephronophthisis
OMIM:243910	TMEM237	65062	HP:0001162	Postaxial hand polydactyly
OMIM:243910	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:243910	TMEM237	65062	HP:0002789	Tachypnea
OMIM:243910	TMEM237	65062	HP:0000639	Nystagmus
OMIM:243910	TMEM237	65062	HP:0006887	Intellectual disability, progressive
OMIM:243910	TMEM237	65062	HP:0002282	Heterotopia
OMIM:243910	TMEM237	65062	HP:0010864	Intellectual disability, severe
OMIM:243910	TMEM237	65062	HP:0002508	Brainstem dysplasia
OMIM:243910	TMEM237	65062	HP:0000508	Ptosis
OMIM:243910	TMEM237	65062	HP:0000154	Wide mouth
OMIM:243910	TMEM237	65062	HP:0000550	Undetectable electroretinogram
OMIM:243910	TMEM237	65062	HP:0002335	Agenesis of cerebellar vermis
OMIM:243910	TMEM237	65062	HP:0002240	Hepatomegaly
OMIM:243910	TMEM237	65062	HP:0001251	Ataxia
OMIM:243910	TMEM237	65062	HP:0001395	Hepatic fibrosis
OMIM:243910	CEP290	80184	HP:0002436	Occipital meningocele
OMIM:243910	CEP290	80184	HP:0001397	Hepatic steatosis
OMIM:243910	CEP290	80184	HP:0002365	Hypoplasia of the brainstem
OMIM:243910	CEP290	80184	HP:0000556	Retinal dystrophy
OMIM:243910	CEP290	80184	HP:0000618	Blindness
OMIM:243910	CEP290	80184	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:243910	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:243910	CEP290	80184	HP:0000113	Polycystic kidney dysplasia
OMIM:243910	CEP290	80184	HP:0000567	Chorioretinal coloboma
OMIM:243910	CEP290	80184	HP:0001263	Global developmental delay
OMIM:243910	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
OMIM:243910	CEP290	80184	HP:0002198	Dilated fourth ventricle
OMIM:243910	CEP290	80184	HP:0001252	Muscular hypotonia
OMIM:243910	CEP290	80184	HP:0002094	Dyspnea
OMIM:243910	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:243910	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:243910	CEP290	80184	HP:0002419	Molar tooth sign on MRI
OMIM:243910	CEP290	80184	HP:0002789	Tachypnea
OMIM:243910	CEP290	80184	HP:0000639	Nystagmus
OMIM:243910	CEP290	80184	HP:0006887	Intellectual disability, progressive
OMIM:243910	CEP290	80184	HP:0002282	Heterotopia
OMIM:243910	CEP290	80184	HP:0010864	Intellectual disability, severe
OMIM:243910	CEP290	80184	HP:0002508	Brainstem dysplasia
OMIM:243910	CEP290	80184	HP:0000508	Ptosis
OMIM:243910	CEP290	80184	HP:0000154	Wide mouth
OMIM:243910	CEP290	80184	HP:0000550	Undetectable electroretinogram
OMIM:243910	CEP290	80184	HP:0002335	Agenesis of cerebellar vermis
OMIM:243910	CEP290	80184	HP:0002240	Hepatomegaly
OMIM:243910	CEP290	80184	HP:0001251	Ataxia
OMIM:243910	CEP290	80184	HP:0001395	Hepatic fibrosis
OMIM:243910	CC2D2A	57545	HP:0002436	Occipital meningocele
OMIM:243910	CC2D2A	57545	HP:0001397	Hepatic steatosis
OMIM:243910	CC2D2A	57545	HP:0002365	Hypoplasia of the brainstem
OMIM:243910	CC2D2A	57545	HP:0000556	Retinal dystrophy
OMIM:243910	CC2D2A	57545	HP:0000618	Blindness
OMIM:243910	CC2D2A	57545	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:243910	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:243910	CC2D2A	57545	HP:0000113	Polycystic kidney dysplasia
OMIM:243910	CC2D2A	57545	HP:0000567	Chorioretinal coloboma
OMIM:243910	CC2D2A	57545	HP:0001263	Global developmental delay
OMIM:243910	CC2D2A	57545	HP:0003774	Stage 5 chronic kidney disease
OMIM:243910	CC2D2A	57545	HP:0002198	Dilated fourth ventricle
OMIM:243910	CC2D2A	57545	HP:0001252	Muscular hypotonia
OMIM:243910	CC2D2A	57545	HP:0002094	Dyspnea
OMIM:243910	CC2D2A	57545	HP:0000090	Nephronophthisis
OMIM:243910	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:243910	CC2D2A	57545	HP:0002419	Molar tooth sign on MRI
OMIM:243910	CC2D2A	57545	HP:0002789	Tachypnea
OMIM:243910	CC2D2A	57545	HP:0000639	Nystagmus
OMIM:243910	CC2D2A	57545	HP:0006887	Intellectual disability, progressive
OMIM:243910	CC2D2A	57545	HP:0002282	Heterotopia
OMIM:243910	CC2D2A	57545	HP:0010864	Intellectual disability, severe
OMIM:243910	CC2D2A	57545	HP:0002508	Brainstem dysplasia
OMIM:243910	CC2D2A	57545	HP:0000508	Ptosis
OMIM:243910	CC2D2A	57545	HP:0000154	Wide mouth
OMIM:243910	CC2D2A	57545	HP:0000550	Undetectable electroretinogram
OMIM:243910	CC2D2A	57545	HP:0002335	Agenesis of cerebellar vermis
OMIM:243910	CC2D2A	57545	HP:0002240	Hepatomegaly
OMIM:243910	CC2D2A	57545	HP:0001251	Ataxia
OMIM:243910	CC2D2A	57545	HP:0001395	Hepatic fibrosis
OMIM:243910	TMEM216	51259	HP:0002436	Occipital meningocele
OMIM:243910	TMEM216	51259	HP:0001397	Hepatic steatosis
OMIM:243910	TMEM216	51259	HP:0002365	Hypoplasia of the brainstem
OMIM:243910	TMEM216	51259	HP:0000556	Retinal dystrophy
OMIM:243910	TMEM216	51259	HP:0000618	Blindness
OMIM:243910	TMEM216	51259	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:243910	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:243910	TMEM216	51259	HP:0000113	Polycystic kidney dysplasia
OMIM:243910	TMEM216	51259	HP:0000567	Chorioretinal coloboma
OMIM:243910	TMEM216	51259	HP:0001263	Global developmental delay
OMIM:243910	TMEM216	51259	HP:0003774	Stage 5 chronic kidney disease
OMIM:243910	TMEM216	51259	HP:0002198	Dilated fourth ventricle
OMIM:243910	TMEM216	51259	HP:0001252	Muscular hypotonia
OMIM:243910	TMEM216	51259	HP:0002094	Dyspnea
OMIM:243910	TMEM216	51259	HP:0000090	Nephronophthisis
OMIM:243910	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:243910	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
OMIM:243910	TMEM216	51259	HP:0002789	Tachypnea
OMIM:243910	TMEM216	51259	HP:0000639	Nystagmus
OMIM:243910	TMEM216	51259	HP:0006887	Intellectual disability, progressive
OMIM:243910	TMEM216	51259	HP:0002282	Heterotopia
OMIM:243910	TMEM216	51259	HP:0010864	Intellectual disability, severe
OMIM:243910	TMEM216	51259	HP:0002508	Brainstem dysplasia
OMIM:243910	TMEM216	51259	HP:0000508	Ptosis
OMIM:243910	TMEM216	51259	HP:0000154	Wide mouth
OMIM:243910	TMEM216	51259	HP:0000550	Undetectable electroretinogram
OMIM:243910	TMEM216	51259	HP:0002335	Agenesis of cerebellar vermis
OMIM:243910	TMEM216	51259	HP:0002240	Hepatomegaly
OMIM:243910	TMEM216	51259	HP:0001251	Ataxia
OMIM:243910	TMEM216	51259	HP:0001395	Hepatic fibrosis
OMIM:243910	TMEM231	79583	HP:0002436	Occipital meningocele
OMIM:243910	TMEM231	79583	HP:0001397	Hepatic steatosis
OMIM:243910	TMEM231	79583	HP:0002365	Hypoplasia of the brainstem
OMIM:243910	TMEM231	79583	HP:0000556	Retinal dystrophy
OMIM:243910	TMEM231	79583	HP:0000618	Blindness
OMIM:243910	TMEM231	79583	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:243910	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:243910	TMEM231	79583	HP:0000113	Polycystic kidney dysplasia
OMIM:243910	TMEM231	79583	HP:0000567	Chorioretinal coloboma
OMIM:243910	TMEM231	79583	HP:0001263	Global developmental delay
OMIM:243910	TMEM231	79583	HP:0003774	Stage 5 chronic kidney disease
OMIM:243910	TMEM231	79583	HP:0002198	Dilated fourth ventricle
OMIM:243910	TMEM231	79583	HP:0001252	Muscular hypotonia
OMIM:243910	TMEM231	79583	HP:0002094	Dyspnea
OMIM:243910	TMEM231	79583	HP:0000090	Nephronophthisis
OMIM:243910	TMEM231	79583	HP:0001162	Postaxial hand polydactyly
OMIM:243910	TMEM231	79583	HP:0002419	Molar tooth sign on MRI
OMIM:243910	TMEM231	79583	HP:0002789	Tachypnea
OMIM:243910	TMEM231	79583	HP:0000639	Nystagmus
OMIM:243910	TMEM231	79583	HP:0006887	Intellectual disability, progressive
OMIM:243910	TMEM231	79583	HP:0002282	Heterotopia
OMIM:243910	TMEM231	79583	HP:0010864	Intellectual disability, severe
OMIM:243910	TMEM231	79583	HP:0002508	Brainstem dysplasia
OMIM:243910	TMEM231	79583	HP:0000508	Ptosis
OMIM:243910	TMEM231	79583	HP:0000154	Wide mouth
OMIM:243910	TMEM231	79583	HP:0000550	Undetectable electroretinogram
OMIM:243910	TMEM231	79583	HP:0002335	Agenesis of cerebellar vermis
OMIM:243910	TMEM231	79583	HP:0002240	Hepatomegaly
OMIM:243910	TMEM231	79583	HP:0001251	Ataxia
OMIM:243910	TMEM231	79583	HP:0001395	Hepatic fibrosis
OMIM:614416	CYP26B1	56603	HP:0001363	Craniosynostosis
OMIM:614416	CYP26B1	56603	HP:0002085	Occipital encephalocele
OMIM:614416	CYP26B1	56603	HP:0001166	Arachnodactyly
OMIM:614416	CYP26B1	56603	HP:0003041	Humeroradial synostosis
OMIM:614416	CYP26B1	56603	HP:0000007	Autosomal recessive inheritance
OMIM:614416	CYP26B1	56603	HP:0000248	Brachycephaly
OMIM:615548	SCN11A	11280	HP:0002014	Diarrhea
OMIM:615548	SCN11A	11280	HP:0001324	Muscle weakness
OMIM:615548	SCN11A	11280	HP:0001270	Motor delay
OMIM:615548	SCN11A	11280	HP:0000006	Autosomal dominant inheritance
OMIM:615548	SCN11A	11280	HP:0007021	Pain insensitivity
OMIM:615548	SCN11A	11280	HP:0000975	Hyperhidrosis
OMIM:615548	SCN11A	11280	HP:0002019	Constipation
OMIM:109800	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:109800	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:109800	RB1	5925	HP:0000006	Autosomal dominant inheritance
OMIM:611263	TTC21B	79809	HP:0001156	Brachydactyly syndrome
OMIM:611263	TTC21B	79809	HP:0000007	Autosomal recessive inheritance
OMIM:611263	TTC21B	79809	HP:0001162	Postaxial hand polydactyly
OMIM:611263	TTC21B	79809	HP:0010049	Short metacarpal
OMIM:611263	TTC21B	79809	HP:0000774	Narrow chest
OMIM:611263	TTC21B	79809	HP:0008905	Rhizomelia
OMIM:611263	TTC21B	79809	HP:0001773	Short foot
OMIM:611263	WDR19	57728	HP:0001156	Brachydactyly syndrome
OMIM:611263	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:611263	WDR19	57728	HP:0001162	Postaxial hand polydactyly
OMIM:611263	WDR19	57728	HP:0010049	Short metacarpal
OMIM:611263	WDR19	57728	HP:0000774	Narrow chest
OMIM:611263	WDR19	57728	HP:0008905	Rhizomelia
OMIM:611263	WDR19	57728	HP:0001773	Short foot
OMIM:611263	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:611263	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:611263	IFT172	26160	HP:0001162	Postaxial hand polydactyly
OMIM:611263	IFT172	26160	HP:0010049	Short metacarpal
OMIM:611263	IFT172	26160	HP:0000774	Narrow chest
OMIM:611263	IFT172	26160	HP:0008905	Rhizomelia
OMIM:611263	IFT172	26160	HP:0001773	Short foot
OMIM:611263	WDR34	89891	HP:0001156	Brachydactyly syndrome
OMIM:611263	WDR34	89891	HP:0000007	Autosomal recessive inheritance
OMIM:611263	WDR34	89891	HP:0001162	Postaxial hand polydactyly
OMIM:611263	WDR34	89891	HP:0010049	Short metacarpal
OMIM:611263	WDR34	89891	HP:0000774	Narrow chest
OMIM:611263	WDR34	89891	HP:0008905	Rhizomelia
OMIM:611263	WDR34	89891	HP:0001773	Short foot
OMIM:611263	IFT80	57560	HP:0001156	Brachydactyly syndrome
OMIM:611263	IFT80	57560	HP:0000007	Autosomal recessive inheritance
OMIM:611263	IFT80	57560	HP:0001162	Postaxial hand polydactyly
OMIM:611263	IFT80	57560	HP:0010049	Short metacarpal
OMIM:611263	IFT80	57560	HP:0000774	Narrow chest
OMIM:611263	IFT80	57560	HP:0008905	Rhizomelia
OMIM:611263	IFT80	57560	HP:0001773	Short foot
OMIM:611263	WDR60	55112	HP:0001156	Brachydactyly syndrome
OMIM:611263	WDR60	55112	HP:0000007	Autosomal recessive inheritance
OMIM:611263	WDR60	55112	HP:0001162	Postaxial hand polydactyly
OMIM:611263	WDR60	55112	HP:0010049	Short metacarpal
OMIM:611263	WDR60	55112	HP:0000774	Narrow chest
OMIM:611263	WDR60	55112	HP:0008905	Rhizomelia
OMIM:611263	WDR60	55112	HP:0001773	Short foot
OMIM:611263	DYNC2H1	79659	HP:0001156	Brachydactyly syndrome
OMIM:611263	DYNC2H1	79659	HP:0000007	Autosomal recessive inheritance
OMIM:611263	DYNC2H1	79659	HP:0001162	Postaxial hand polydactyly
OMIM:611263	DYNC2H1	79659	HP:0010049	Short metacarpal
OMIM:611263	DYNC2H1	79659	HP:0000774	Narrow chest
OMIM:611263	DYNC2H1	79659	HP:0008905	Rhizomelia
OMIM:611263	DYNC2H1	79659	HP:0001773	Short foot
OMIM:611263	CEP120	153241	HP:0001156	Brachydactyly syndrome
OMIM:611263	CEP120	153241	HP:0000007	Autosomal recessive inheritance
OMIM:611263	CEP120	153241	HP:0001162	Postaxial hand polydactyly
OMIM:611263	CEP120	153241	HP:0010049	Short metacarpal
OMIM:611263	CEP120	153241	HP:0000774	Narrow chest
OMIM:611263	CEP120	153241	HP:0008905	Rhizomelia
OMIM:611263	CEP120	153241	HP:0001773	Short foot
OMIM:611263	IFT140	9742	HP:0001156	Brachydactyly syndrome
OMIM:611263	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:611263	IFT140	9742	HP:0001162	Postaxial hand polydactyly
OMIM:611263	IFT140	9742	HP:0010049	Short metacarpal
OMIM:611263	IFT140	9742	HP:0000774	Narrow chest
OMIM:611263	IFT140	9742	HP:0008905	Rhizomelia
OMIM:611263	IFT140	9742	HP:0001773	Short foot
OMIM:615185	GNB4	59345	HP:0001761	Pes cavus
OMIM:615185	GNB4	59345	HP:0003376	Steppage gait
OMIM:615185	GNB4	59345	HP:0003383	Onion bulb formation
OMIM:615185	GNB4	59345	HP:0001265	Hyporeflexia
OMIM:615185	GNB4	59345	HP:0000006	Autosomal dominant inheritance
OMIM:615185	GNB4	59345	HP:0001765	Hammertoe
OMIM:615185	GNB4	59345	HP:0002936	Distal sensory impairment
OMIM:615185	GNB4	59345	HP:0003677	Slow progression
OMIM:615777	XYLT1	64131	HP:0000520	Proptosis
OMIM:615777	XYLT1	64131	HP:0000767	Pectus excavatum
OMIM:615777	XYLT1	64131	HP:0003016	Metaphyseal widening
OMIM:615777	XYLT1	64131	HP:0001252	Muscular hypotonia
OMIM:615777	XYLT1	64131	HP:0000894	Short clavicles
OMIM:615777	XYLT1	64131	HP:0004322	Short stature
OMIM:615777	XYLT1	64131	HP:0000311	Round face
OMIM:615777	XYLT1	64131	HP:0011304	Broad thumb
OMIM:615777	XYLT1	64131	HP:0001956	Truncal obesity
OMIM:615777	XYLT1	64131	HP:0003026	Short long bone
OMIM:615777	XYLT1	64131	HP:0009803	Short phalanx of finger
OMIM:615777	XYLT1	64131	HP:0000774	Narrow chest
OMIM:615777	XYLT1	64131	HP:0001763	Pes planus
OMIM:615777	XYLT1	64131	HP:0004482	Relative macrocephaly
OMIM:615777	XYLT1	64131	HP:0005280	Depressed nasal bridge
OMIM:615777	XYLT1	64131	HP:0004233	Advanced ossification of carpal bones
OMIM:615777	XYLT1	64131	HP:0000343	Long philtrum
OMIM:615777	XYLT1	64131	HP:0012368	Flat face
OMIM:615777	XYLT1	64131	HP:0000954	Single transverse palmar crease
OMIM:615777	XYLT1	64131	HP:0001388	Joint laxity
OMIM:615777	XYLT1	64131	HP:0001249	Intellectual disability
OMIM:615777	XYLT1	64131	HP:0002673	Coxa valga
OMIM:615777	XYLT1	64131	HP:0000592	Blue sclerae
OMIM:615777	XYLT1	64131	HP:0000768	Pectus carinatum
OMIM:615777	XYLT1	64131	HP:0010049	Short metacarpal
OMIM:615777	XYLT1	64131	HP:0000175	Cleft palate
OMIM:615777	CANT1	124583	HP:0000520	Proptosis
OMIM:615777	CANT1	124583	HP:0000767	Pectus excavatum
OMIM:615777	CANT1	124583	HP:0003016	Metaphyseal widening
OMIM:615777	CANT1	124583	HP:0001252	Muscular hypotonia
OMIM:615777	CANT1	124583	HP:0000894	Short clavicles
OMIM:615777	CANT1	124583	HP:0004322	Short stature
OMIM:615777	CANT1	124583	HP:0000311	Round face
OMIM:615777	CANT1	124583	HP:0011304	Broad thumb
OMIM:615777	CANT1	124583	HP:0001956	Truncal obesity
OMIM:615777	CANT1	124583	HP:0003026	Short long bone
OMIM:615777	CANT1	124583	HP:0009803	Short phalanx of finger
OMIM:615777	CANT1	124583	HP:0000774	Narrow chest
OMIM:615777	CANT1	124583	HP:0001763	Pes planus
OMIM:615777	CANT1	124583	HP:0004482	Relative macrocephaly
OMIM:615777	CANT1	124583	HP:0005280	Depressed nasal bridge
OMIM:615777	CANT1	124583	HP:0004233	Advanced ossification of carpal bones
OMIM:615777	CANT1	124583	HP:0000343	Long philtrum
OMIM:615777	CANT1	124583	HP:0012368	Flat face
OMIM:615777	CANT1	124583	HP:0000954	Single transverse palmar crease
OMIM:615777	CANT1	124583	HP:0001388	Joint laxity
OMIM:615777	CANT1	124583	HP:0001249	Intellectual disability
OMIM:615777	CANT1	124583	HP:0002673	Coxa valga
OMIM:615777	CANT1	124583	HP:0000592	Blue sclerae
OMIM:615777	CANT1	124583	HP:0000768	Pectus carinatum
OMIM:615777	CANT1	124583	HP:0010049	Short metacarpal
OMIM:615777	CANT1	124583	HP:0000175	Cleft palate
OMIM:614409	GBA2	57704	HP:0002406	Limb dysmetria
OMIM:614409	GBA2	57704	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:614409	GBA2	57704	HP:0000639	Nystagmus
OMIM:614409	GBA2	57704	HP:0000007	Autosomal recessive inheritance
OMIM:614409	GBA2	57704	HP:0000726	Dementia
OMIM:614409	GBA2	57704	HP:0002650	Scoliosis
OMIM:614409	GBA2	57704	HP:0002064	Spastic gait
OMIM:614409	GBA2	57704	HP:0002059	Cerebral atrophy
OMIM:614409	GBA2	57704	HP:0000789	Infertility
OMIM:614409	GBA2	57704	HP:0000365	Hearing impairment
OMIM:614409	GBA2	57704	HP:0001272	Cerebellar atrophy
OMIM:614409	GBA2	57704	HP:0001260	Dysarthria
OMIM:614409	GBA2	57704	HP:0000518	Cataract
OMIM:614409	GBA2	57704	HP:0003676	Progressive
OMIM:614409	GBA2	57704	HP:0003487	Babinski sign
OMIM:614409	GBA2	57704	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614409	GBA2	57704	HP:0003677	Slow progression
OMIM:614409	GBA2	57704	HP:0001258	Spastic paraplegia
OMIM:614409	GBA2	57704	HP:0011448	Ankle clonus
OMIM:614409	GBA2	57704	HP:0011449	Knee clonus
OMIM:614409	GBA2	57704	HP:0002808	Kyphosis
OMIM:614409	GBA2	57704	HP:0006986	Upper limb spasticity
OMIM:614409	GBA2	57704	HP:0001761	Pes cavus
OMIM:614409	GBA2	57704	HP:0000020	Urinary incontinence
OMIM:614409	GBA2	57704	HP:0007340	Lower limb muscle weakness
ORPHANET:774	GDF2	2658	HP:0200008	Intestinal polyposis
ORPHANET:774	GDF2	2658	HP:0000421	Epistaxis
ORPHANET:774	GDF2	2658	HP:0001080	Biliary tract abnormality
ORPHANET:774	GDF2	2658	HP:0001399	Hepatic failure
ORPHANET:774	GDF2	2658	HP:0002076	Migraine
ORPHANET:774	GDF2	2658	HP:0002204	Pulmonary embolism
ORPHANET:774	GDF2	2658	HP:0002637	Cerebral ischemia
ORPHANET:774	GDF2	2658	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:774	GDF2	2658	HP:0001250	Seizures
ORPHANET:774	GDF2	2658	HP:0001394	Cirrhosis
ORPHANET:774	GDF2	2658	HP:0001635	Congestive heart failure
ORPHANET:774	GDF2	2658	HP:0001928	Abnormality of coagulation
ORPHANET:774	GDF2	2658	HP:0100585	Telangiectasia of the skin
ORPHANET:774	GDF2	2658	HP:0000787	Nephrolithiasis
ORPHANET:774	GDF2	2658	HP:0001409	Portal hypertension
ORPHANET:774	GDF2	2658	HP:0000790	Hematuria
ORPHANET:774	GDF2	2658	HP:0000505	Visual impairment
ORPHANET:774	GDF2	2658	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:774	GDF2	2658	HP:0004418	Thrombophlebitis
ORPHANET:774	ENG	2022	HP:0200008	Intestinal polyposis
ORPHANET:774	ENG	2022	HP:0000421	Epistaxis
ORPHANET:774	ENG	2022	HP:0001080	Biliary tract abnormality
ORPHANET:774	ENG	2022	HP:0001399	Hepatic failure
ORPHANET:774	ENG	2022	HP:0002076	Migraine
ORPHANET:774	ENG	2022	HP:0002204	Pulmonary embolism
ORPHANET:774	ENG	2022	HP:0002637	Cerebral ischemia
ORPHANET:774	ENG	2022	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:774	ENG	2022	HP:0001250	Seizures
ORPHANET:774	ENG	2022	HP:0001394	Cirrhosis
ORPHANET:774	ENG	2022	HP:0001635	Congestive heart failure
ORPHANET:774	ENG	2022	HP:0001928	Abnormality of coagulation
ORPHANET:774	ENG	2022	HP:0100585	Telangiectasia of the skin
ORPHANET:774	ENG	2022	HP:0000787	Nephrolithiasis
ORPHANET:774	ENG	2022	HP:0001409	Portal hypertension
ORPHANET:774	ENG	2022	HP:0000790	Hematuria
ORPHANET:774	ENG	2022	HP:0000505	Visual impairment
ORPHANET:774	ENG	2022	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:774	ENG	2022	HP:0004418	Thrombophlebitis
ORPHANET:774	SMAD4	4089	HP:0200008	Intestinal polyposis
ORPHANET:774	SMAD4	4089	HP:0000421	Epistaxis
ORPHANET:774	SMAD4	4089	HP:0001080	Biliary tract abnormality
ORPHANET:774	SMAD4	4089	HP:0001399	Hepatic failure
ORPHANET:774	SMAD4	4089	HP:0002076	Migraine
ORPHANET:774	SMAD4	4089	HP:0002204	Pulmonary embolism
ORPHANET:774	SMAD4	4089	HP:0002637	Cerebral ischemia
ORPHANET:774	SMAD4	4089	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:774	SMAD4	4089	HP:0001250	Seizures
ORPHANET:774	SMAD4	4089	HP:0001394	Cirrhosis
ORPHANET:774	SMAD4	4089	HP:0001635	Congestive heart failure
ORPHANET:774	SMAD4	4089	HP:0001928	Abnormality of coagulation
ORPHANET:774	SMAD4	4089	HP:0100585	Telangiectasia of the skin
ORPHANET:774	SMAD4	4089	HP:0000787	Nephrolithiasis
ORPHANET:774	SMAD4	4089	HP:0001409	Portal hypertension
ORPHANET:774	SMAD4	4089	HP:0000790	Hematuria
ORPHANET:774	SMAD4	4089	HP:0000505	Visual impairment
ORPHANET:774	SMAD4	4089	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:774	SMAD4	4089	HP:0004418	Thrombophlebitis
ORPHANET:774	ACVRL1	94	HP:0200008	Intestinal polyposis
ORPHANET:774	ACVRL1	94	HP:0000421	Epistaxis
ORPHANET:774	ACVRL1	94	HP:0001080	Biliary tract abnormality
ORPHANET:774	ACVRL1	94	HP:0001399	Hepatic failure
ORPHANET:774	ACVRL1	94	HP:0002076	Migraine
ORPHANET:774	ACVRL1	94	HP:0002204	Pulmonary embolism
ORPHANET:774	ACVRL1	94	HP:0002637	Cerebral ischemia
ORPHANET:774	ACVRL1	94	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:774	ACVRL1	94	HP:0001250	Seizures
ORPHANET:774	ACVRL1	94	HP:0001394	Cirrhosis
ORPHANET:774	ACVRL1	94	HP:0001635	Congestive heart failure
ORPHANET:774	ACVRL1	94	HP:0001928	Abnormality of coagulation
ORPHANET:774	ACVRL1	94	HP:0100585	Telangiectasia of the skin
ORPHANET:774	ACVRL1	94	HP:0000787	Nephrolithiasis
ORPHANET:774	ACVRL1	94	HP:0001409	Portal hypertension
ORPHANET:774	ACVRL1	94	HP:0000790	Hematuria
ORPHANET:774	ACVRL1	94	HP:0000505	Visual impairment
ORPHANET:774	ACVRL1	94	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:774	ACVRL1	94	HP:0004418	Thrombophlebitis
OMIM:145750	APOA5	116519	HP:0001952	Abnormal glucose tolerance
OMIM:145750	APOA5	116519	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:145750	APOA5	116519	HP:0002155	Hypertriglyceridemia
OMIM:145750	APOA5	116519	HP:0000006	Autosomal dominant inheritance
OMIM:145750	LIPI	149998	HP:0001952	Abnormal glucose tolerance
OMIM:145750	LIPI	149998	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:145750	LIPI	149998	HP:0002155	Hypertriglyceridemia
OMIM:145750	LIPI	149998	HP:0000006	Autosomal dominant inheritance
OMIM:615517	FTH1	2495	HP:0000006	Autosomal dominant inheritance
OMIM:310600	NDP	4693	HP:0000738	Hallucinations
OMIM:310600	NDP	4693	HP:0000532	Chorioretinal abnormality
OMIM:310600	NDP	4693	HP:0000400	Macrotia
OMIM:310600	NDP	4693	HP:0100012	Neoplasm of the eye
OMIM:310600	NDP	4693	HP:0004325	Decreased body weight
OMIM:310600	NDP	4693	HP:0004305	Involuntary movements
OMIM:310600	NDP	4693	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:310600	NDP	4693	HP:0005293	Venous insufficiency
OMIM:310600	NDP	4693	HP:0000501	Glaucoma
OMIM:310600	NDP	4693	HP:0001083	Ectopia lentis
OMIM:310600	NDP	4693	HP:0000518	Cataract
OMIM:310600	NDP	4693	HP:0010978	Abnormality of immune system physiology
OMIM:310600	NDP	4693	HP:0000541	Retinal detachment
OMIM:310600	NDP	4693	HP:0001324	Muscle weakness
OMIM:310600	NDP	4693	HP:0007018	Attention deficit hyperactivity disorder
OMIM:310600	NDP	4693	HP:0000618	Blindness
OMIM:310600	NDP	4693	HP:0002353	EEG abnormality
OMIM:310600	NDP	4693	HP:0000648	Optic atrophy
OMIM:310600	NDP	4693	HP:0100543	Cognitive impairment
OMIM:310600	NDP	4693	HP:0001250	Seizures
OMIM:310600	NDP	4693	HP:0001419	X-linked recessive inheritance
OMIM:310600	NDP	4693	HP:0000819	Diabetes mellitus
OMIM:310600	NDP	4693	HP:0006887	Intellectual disability, progressive
OMIM:310600	NDP	4693	HP:0001276	Hypertonia
OMIM:310600	NDP	4693	HP:0002650	Scoliosis
OMIM:310600	NDP	4693	HP:0008046	Abnormality of the retinal vasculature
OMIM:310600	NDP	4693	HP:0000028	Cryptorchidism
OMIM:310600	NDP	4693	HP:0002076	Migraine
OMIM:310600	NDP	4693	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:310600	NDP	4693	HP:0002120	Cerebral cortical atrophy
OMIM:310600	NDP	4693	HP:0000568	Microphthalmia
OMIM:310600	NDP	4693	HP:0000446	Narrow nasal bridge
OMIM:310600	NDP	4693	HP:0001347	Hyperreflexia
OMIM:310600	NDP	4693	HP:0002376	Developmental regression
OMIM:310600	NDP	4693	HP:0100716	Self-injurious behavior
OMIM:310600	NDP	4693	HP:0007759	Opacification of the corneal stroma
OMIM:310600	NDP	4693	HP:0008063	Aplasia/Hypoplasia of the lens
OMIM:310600	NDP	4693	HP:0100742	Vascular neoplasm
OMIM:310600	NDP	4693	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:310600	NDP	4693	HP:0001252	Muscular hypotonia
OMIM:310600	NDP	4693	HP:0000601	Hypotelorism
OMIM:310600	NDP	4693	HP:0000639	Nystagmus
OMIM:310600	NDP	4693	HP:0000709	Psychosis
OMIM:310600	NDP	4693	HP:0000407	Sensorineural hearing impairment
OMIM:310600	NDP	4693	HP:0000615	Abnormality of the pupil
OMIM:310600	NDP	4693	HP:0000647	Sclerocornea
OMIM:310600	NDP	4693	HP:0000718	Aggressive behavior
OMIM:310600	NDP	4693	HP:0004327	Abnormality of the vitreous humor
OMIM:310600	NDP	4693	HP:0000252	Microcephaly
OMIM:310600	NDP	4693	HP:0010662	Abnormality of the diencephalon
OMIM:310600	NDP	4693	HP:0000490	Deeply set eye
OMIM:310600	NDP	4693	HP:0011039	Abnormality of the helix
OMIM:310600	NDP	4693	HP:0000733	Stereotypic behavior
OMIM:310600	NDP	4693	HP:0000233	Thin vermilion border
OMIM:310600	NDP	4693	HP:0000717	Autism
OMIM:310600	NDP	4693	HP:0002360	Sleep disturbance
OMIM:310600	NDP	4693	HP:0000726	Dementia
OMIM:310600	NDP	4693	HP:0007973	Retinal dysplasia
OMIM:300257	LAMP2	3920	HP:0001324	Muscle weakness
OMIM:300257	LAMP2	3920	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300257	LAMP2	3920	HP:0001640	Cardiomegaly
OMIM:300257	LAMP2	3920	HP:0001761	Pes cavus
OMIM:300257	LAMP2	3920	HP:0003546	Exercise intolerance
OMIM:300257	LAMP2	3920	HP:0003812	Phenotypic variability
OMIM:300257	LAMP2	3920	HP:0003701	Proximal muscle weakness
OMIM:300257	LAMP2	3920	HP:0001263	Global developmental delay
OMIM:300257	LAMP2	3920	HP:0003710	Exercise-induced muscle cramps
OMIM:300257	LAMP2	3920	HP:0011675	Arrhythmia
OMIM:300257	LAMP2	3920	HP:0000505	Visual impairment
OMIM:300257	LAMP2	3920	HP:0001644	Dilated cardiomyopathy
OMIM:300257	LAMP2	3920	HP:0001685	Myocardial fibrosis
OMIM:300257	LAMP2	3920	HP:0100543	Cognitive impairment
OMIM:300257	LAMP2	3920	HP:0003458	EMG: myopathic abnormalities
OMIM:300257	LAMP2	3920	HP:0001423	X-linked dominant inheritance
OMIM:300257	LAMP2	3920	HP:0001288	Gait disturbance
OMIM:300257	LAMP2	3920	HP:0001249	Intellectual disability
OMIM:300257	LAMP2	3920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300257	LAMP2	3920	HP:0001645	Sudden cardiac death
OMIM:267200	CA2	760	HP:0000007	Autosomal recessive inheritance
OMIM:267200	CA2	760	HP:0000121	Nephrocalcinosis
OMIM:267200	CA2	760	HP:0000787	Nephrolithiasis
OMIM:611879	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:611879	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:611879	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:611879	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:611879	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:611879	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:611879	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:611879	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:611879	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:611879	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:611879	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:611879	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:611879	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:611879	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:611879	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:611879	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:611879	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:611879	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:611879	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:611879	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:611879	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:611879	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:611879	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:611879	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:611879	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:611879	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:611879	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:611879	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:611879	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:611879	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:611879	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:611879	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:611879	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:611879	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:611879	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:611879	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:611879	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:611879	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:611879	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:611879	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:611879	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:611879	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:611879	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:611879	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:611879	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:611879	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:611879	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:611879	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:611879	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:611879	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:611879	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:611879	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:611879	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:611879	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:611879	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:611879	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:611879	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:611879	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:611879	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:611879	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:611879	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:611879	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:611879	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:611879	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:611879	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:611879	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:611879	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:611879	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:611879	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:611879	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:611879	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:611879	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:611879	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:611879	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:611879	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:611879	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:611879	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:611879	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:614300	ADK	132	HP:0002904	Hyperbilirubinemia
OMIM:614300	ADK	132	HP:0002465	Poor speech
OMIM:614300	ADK	132	HP:0000316	Hypertelorism
OMIM:614300	ADK	132	HP:0000407	Sensorineural hearing impairment
OMIM:614300	ADK	132	HP:0000007	Autosomal recessive inheritance
OMIM:614300	ADK	132	HP:0001786	Narrow foot
OMIM:614300	ADK	132	HP:0003593	Infantile onset
OMIM:614300	ADK	132	HP:0001642	Pulmonic stenosis
OMIM:614300	ADK	132	HP:0000256	Macrocephaly
OMIM:614300	ADK	132	HP:0001250	Seizures
OMIM:614300	ADK	132	HP:0001410	Decreased liver function
OMIM:614300	ADK	132	HP:0003202	Skeletal muscle atrophy
OMIM:614300	ADK	132	HP:0001508	Failure to thrive
OMIM:614300	ADK	132	HP:0002910	Elevated hepatic transaminases
OMIM:614300	ADK	132	HP:0001680	Coarctation of aorta
OMIM:614300	ADK	132	HP:0001252	Muscular hypotonia
OMIM:614300	ADK	132	HP:0001631	Atria septal defect
OMIM:614300	ADK	132	HP:0002059	Cerebral atrophy
OMIM:614300	ADK	132	HP:0003235	Hypermethioninemia
OMIM:614300	ADK	132	HP:0001397	Hepatic steatosis
OMIM:614300	ADK	132	HP:0001396	Cholestasis
OMIM:614300	ADK	132	HP:0002007	Frontal bossing
OMIM:614300	ADK	132	HP:0001263	Global developmental delay
OMIM:614300	ADK	132	HP:0000750	Delayed speech and language development
OMIM:614300	ADK	132	HP:0003676	Progressive
OMIM:260005	OPLAH	26873	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:260005	OPLAH	26873	HP:0003137	Prolinuria
OMIM:260005	OPLAH	26873	HP:0002014	Diarrhea
OMIM:260005	OPLAH	26873	HP:0002027	Abdominal pain
OMIM:260005	OPLAH	26873	HP:0040142	5-oxoprolinase deficiency
OMIM:260005	OPLAH	26873	HP:0002013	Vomiting
OMIM:260005	OPLAH	26873	HP:0000007	Autosomal recessive inheritance
OMIM:260005	OPLAH	26873	HP:0004387	Enterocolitis
OMIM:600886	FTL	2512	HP:0000518	Cataract
OMIM:600886	FTL	2512	HP:0008024	Congenital nuclear cataract
OMIM:600886	FTL	2512	HP:0000006	Autosomal dominant inheritance
OMIM:600886	FTL	2512	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600886	FTL	2512	HP:0010693	Pulverulent Cataract
OMIM:614651	PDSS1	23590	HP:0001256	Intellectual disability, mild
OMIM:614651	PDSS1	23590	HP:0002151	Increased serum lactate
OMIM:614651	PDSS1	23590	HP:0000648	Optic atrophy
OMIM:614651	PDSS1	23590	HP:0001284	Areflexia
OMIM:614651	PDSS1	23590	HP:0001513	Obesity
OMIM:614651	PDSS1	23590	HP:0000007	Autosomal recessive inheritance
OMIM:614651	PDSS1	23590	HP:0000256	Macrocephaly
OMIM:614651	PDSS1	23590	HP:0000965	Cutis marmorata
OMIM:614651	PDSS1	23590	HP:0009830	Peripheral neuropathy
OMIM:614651	PDSS1	23590	HP:0001653	Mitral regurgitation
OMIM:614651	PDSS1	23590	HP:0001659	Aortic regurgitation
OMIM:605818	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:605818	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:605818	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:605818	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:605818	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:605818	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:605818	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:605818	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:605818	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:605818	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:605818	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:605818	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:605818	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:605818	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:605818	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:605818	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:605818	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:605818	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:605818	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:605818	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:605818	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:605818	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:605818	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:605818	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:605818	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:605818	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:605818	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:605818	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:605818	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:605818	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:605818	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:605818	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:605818	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:605818	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:605818	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:605818	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:605818	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:605818	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:605818	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:605818	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:605818	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:605818	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:605818	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:605818	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:605818	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:605818	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:605818	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:605818	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:605818	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:605818	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:605818	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:605818	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:605818	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:605818	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:605818	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:605818	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:605818	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:605818	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:605818	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:605818	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:605818	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:605818	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:605818	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:605818	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:605818	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:605818	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:605818	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:605818	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:605818	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:605818	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:605818	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:605818	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:605818	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:605818	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:605818	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:605818	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:605818	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:605818	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:605818	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:605818	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:605818	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:605818	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:605818	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:605818	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:605818	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:605818	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:605818	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:605818	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:605818	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:605818	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:605818	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:605818	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:605818	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:605818	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:605818	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:605818	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:605818	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:605818	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:605818	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:605818	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:605818	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:605818	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:605818	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:605818	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:605818	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:605818	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:605818	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:605818	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:605818	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:605818	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:605818	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:605818	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:605818	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:605818	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:605818	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:605818	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:605818	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:605818	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:605818	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:605818	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:614415	SAMHD1	25939	HP:0000006	Autosomal dominant inheritance
OMIM:614415	SAMHD1	25939	HP:0000992	Cutaneous photosensitivity
OMIM:614415	TREX1	11277	HP:0000006	Autosomal dominant inheritance
OMIM:614415	TREX1	11277	HP:0000992	Cutaneous photosensitivity
OMIM:274900	SLC5A5	6528	HP:0001249	Intellectual disability
OMIM:274900	SLC5A5	6528	HP:0001510	Growth delay
OMIM:274900	SLC5A5	6528	HP:0000821	Hypothyroidism
OMIM:274900	SLC5A5	6528	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274900	SLC5A5	6528	HP:0000853	Goiter
OMIM:274900	SLC5A5	6528	HP:0000007	Autosomal recessive inheritance
OMIM:274900	TPO	7173	HP:0001249	Intellectual disability
OMIM:274900	TPO	7173	HP:0001510	Growth delay
OMIM:274900	TPO	7173	HP:0000821	Hypothyroidism
OMIM:274900	TPO	7173	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274900	TPO	7173	HP:0000853	Goiter
OMIM:274900	TPO	7173	HP:0000007	Autosomal recessive inheritance
OMIM:274900	DUOX2	50506	HP:0001249	Intellectual disability
OMIM:274900	DUOX2	50506	HP:0001510	Growth delay
OMIM:274900	DUOX2	50506	HP:0000821	Hypothyroidism
OMIM:274900	DUOX2	50506	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274900	DUOX2	50506	HP:0000853	Goiter
OMIM:274900	DUOX2	50506	HP:0000007	Autosomal recessive inheritance
OMIM:274900	TG	7038	HP:0001249	Intellectual disability
OMIM:274900	TG	7038	HP:0001510	Growth delay
OMIM:274900	TG	7038	HP:0000821	Hypothyroidism
OMIM:274900	TG	7038	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274900	TG	7038	HP:0000853	Goiter
OMIM:274900	TG	7038	HP:0000007	Autosomal recessive inheritance
OMIM:274900	DUOXA2	405753	HP:0001249	Intellectual disability
OMIM:274900	DUOXA2	405753	HP:0001510	Growth delay
OMIM:274900	DUOXA2	405753	HP:0000821	Hypothyroidism
OMIM:274900	DUOXA2	405753	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274900	DUOXA2	405753	HP:0000853	Goiter
OMIM:274900	DUOXA2	405753	HP:0000007	Autosomal recessive inheritance
OMIM:274900	IYD	389434	HP:0001249	Intellectual disability
OMIM:274900	IYD	389434	HP:0001510	Growth delay
OMIM:274900	IYD	389434	HP:0000821	Hypothyroidism
OMIM:274900	IYD	389434	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274900	IYD	389434	HP:0000853	Goiter
OMIM:274900	IYD	389434	HP:0000007	Autosomal recessive inheritance
ORPHANET:261190	MEIS2	4212	HP:0001629	Ventricular septal defect
ORPHANET:261190	MEIS2	4212	HP:0000717	Autism
ORPHANET:261190	MEIS2	4212	HP:0004322	Short stature
ORPHANET:261190	MEIS2	4212	HP:0000343	Long philtrum
ORPHANET:261190	MEIS2	4212	HP:0001061	Acne
ORPHANET:261190	MEIS2	4212	HP:0000164	Abnormality of the teeth
ORPHANET:261190	MEIS2	4212	HP:0000341	Narrow forehead
ORPHANET:261190	MEIS2	4212	HP:0000426	Prominent nasal bridge
ORPHANET:261190	MEIS2	4212	HP:0001250	Seizures
ORPHANET:261190	MEIS2	4212	HP:0001601	Laryngomalacia
ORPHANET:261190	MEIS2	4212	HP:0000444	Convex nasal ridge
ORPHANET:261190	MEIS2	4212	HP:0000276	Long face
ORPHANET:261190	MEIS2	4212	HP:0000307	Pointed chin
ORPHANET:261190	MEIS2	4212	HP:0000175	Cleft palate
ORPHANET:261190	MEIS2	4212	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:261190	MEIS2	4212	HP:0001631	Atria septal defect
ORPHANET:261190	MEIS2	4212	HP:0002167	Neurological speech impairment
ORPHANET:261190	MEIS2	4212	HP:0000490	Deeply set eye
ORPHANET:261190	MEIS2	4212	HP:0004299	Hernia of the abdominal wall
ORPHANET:261190	MEIS2	4212	HP:0100543	Cognitive impairment
ORPHANET:261190	MEIS2	4212	HP:0002650	Scoliosis
ORPHANET:261190	MEIS2	4212	HP:0000252	Microcephaly
ORPHANET:261190	MEIS2	4212	HP:0000322	Short philtrum
ORPHANET:261190	MEIS2	4212	HP:0002808	Kyphosis
OMIM:114500	MCC	4163	HP:0006753	Neoplasm of the stomach
OMIM:114500	PTPRJ	5795	HP:0006753	Neoplasm of the stomach
OMIM:114500	APC	324	HP:0006753	Neoplasm of the stomach
OMIM:114500	PDGFRL	5157	HP:0006753	Neoplasm of the stomach
OMIM:114500	BAX	581	HP:0006753	Neoplasm of the stomach
OMIM:114500	FLCN	201163	HP:0006753	Neoplasm of the stomach
OMIM:114500	PIK3CA	5290	HP:0006753	Neoplasm of the stomach
OMIM:114500	AKT1	207	HP:0006753	Neoplasm of the stomach
OMIM:114500	EP300	2033	HP:0006753	Neoplasm of the stomach
OMIM:114500	FGFR3	2261	HP:0006753	Neoplasm of the stomach
OMIM:114500	TP53	7157	HP:0006753	Neoplasm of the stomach
OMIM:114500	PTPN12	5782	HP:0006753	Neoplasm of the stomach
OMIM:114500	MLH3	27030	HP:0006753	Neoplasm of the stomach
OMIM:114500	AXIN2	8313	HP:0006753	Neoplasm of the stomach
OMIM:114500	CTNNB1	1499	HP:0006753	Neoplasm of the stomach
OMIM:114500	DLC1	10395	HP:0006753	Neoplasm of the stomach
OMIM:114500	RAD54B	25788	HP:0006753	Neoplasm of the stomach
OMIM:114500	NRAS	4893	HP:0006753	Neoplasm of the stomach
OMIM:114500	BUB1B	701	HP:0006753	Neoplasm of the stomach
OMIM:114500	DCC	1630	HP:0006753	Neoplasm of the stomach
OMIM:612389	TSEN54	283989	HP:0002179	Opisthotonus
OMIM:612389	TSEN54	283989	HP:0001250	Seizures
OMIM:612389	TSEN54	283989	HP:0002119	Ventriculomegaly
OMIM:612389	TSEN54	283989	HP:0008936	Muscular hypotonia of the trunk
OMIM:612389	TSEN54	283989	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612389	TSEN54	283989	HP:0002072	Chorea
OMIM:612389	TSEN54	283989	HP:0002365	Hypoplasia of the brainstem
OMIM:612389	TSEN54	283989	HP:0000007	Autosomal recessive inheritance
OMIM:612389	TSEN54	283989	HP:0003487	Babinski sign
OMIM:612389	TSEN54	283989	HP:0002059	Cerebral atrophy
OMIM:612389	TSEN54	283989	HP:0002509	Limb hypertonia
OMIM:612389	TSEN54	283989	HP:0000340	Sloping forehead
OMIM:612389	TSEN54	283989	HP:0001321	Cerebellar hypoplasia
OMIM:612389	TSEN54	283989	HP:0001332	Dystonia
OMIM:612389	TSEN54	283989	HP:0002169	Clonus
OMIM:612389	TSEN54	283989	HP:0009879	Cortical gyral simplification
OMIM:612389	TSEN54	283989	HP:0000252	Microcephaly
OMIM:612389	TSEN54	283989	HP:0011968	Feeding difficulties
OMIM:612389	TSEN34	79042	HP:0002179	Opisthotonus
OMIM:612389	TSEN34	79042	HP:0001250	Seizures
OMIM:612389	TSEN34	79042	HP:0002119	Ventriculomegaly
OMIM:612389	TSEN34	79042	HP:0008936	Muscular hypotonia of the trunk
OMIM:612389	TSEN34	79042	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612389	TSEN34	79042	HP:0002072	Chorea
OMIM:612389	TSEN34	79042	HP:0002365	Hypoplasia of the brainstem
OMIM:612389	TSEN34	79042	HP:0000007	Autosomal recessive inheritance
OMIM:612389	TSEN34	79042	HP:0003487	Babinski sign
OMIM:612389	TSEN34	79042	HP:0002059	Cerebral atrophy
OMIM:612389	TSEN34	79042	HP:0002509	Limb hypertonia
OMIM:612389	TSEN34	79042	HP:0000340	Sloping forehead
OMIM:612389	TSEN34	79042	HP:0001321	Cerebellar hypoplasia
OMIM:612389	TSEN34	79042	HP:0001332	Dystonia
OMIM:612389	TSEN34	79042	HP:0002169	Clonus
OMIM:612389	TSEN34	79042	HP:0009879	Cortical gyral simplification
OMIM:612389	TSEN34	79042	HP:0000252	Microcephaly
OMIM:612389	TSEN34	79042	HP:0011968	Feeding difficulties
OMIM:612389	SEPSECS	51091	HP:0002179	Opisthotonus
OMIM:612389	SEPSECS	51091	HP:0001250	Seizures
OMIM:612389	SEPSECS	51091	HP:0002119	Ventriculomegaly
OMIM:612389	SEPSECS	51091	HP:0008936	Muscular hypotonia of the trunk
OMIM:612389	SEPSECS	51091	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612389	SEPSECS	51091	HP:0002072	Chorea
OMIM:612389	SEPSECS	51091	HP:0002365	Hypoplasia of the brainstem
OMIM:612389	SEPSECS	51091	HP:0000007	Autosomal recessive inheritance
OMIM:612389	SEPSECS	51091	HP:0003487	Babinski sign
OMIM:612389	SEPSECS	51091	HP:0002059	Cerebral atrophy
OMIM:612389	SEPSECS	51091	HP:0002509	Limb hypertonia
OMIM:612389	SEPSECS	51091	HP:0000340	Sloping forehead
OMIM:612389	SEPSECS	51091	HP:0001321	Cerebellar hypoplasia
OMIM:612389	SEPSECS	51091	HP:0001332	Dystonia
OMIM:612389	SEPSECS	51091	HP:0002169	Clonus
OMIM:612389	SEPSECS	51091	HP:0009879	Cortical gyral simplification
OMIM:612389	SEPSECS	51091	HP:0000252	Microcephaly
OMIM:612389	SEPSECS	51091	HP:0011968	Feeding difficulties
OMIM:612389	TSEN2	80746	HP:0002179	Opisthotonus
OMIM:612389	TSEN2	80746	HP:0001250	Seizures
OMIM:612389	TSEN2	80746	HP:0002119	Ventriculomegaly
OMIM:612389	TSEN2	80746	HP:0008936	Muscular hypotonia of the trunk
OMIM:612389	TSEN2	80746	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612389	TSEN2	80746	HP:0002072	Chorea
OMIM:612389	TSEN2	80746	HP:0002365	Hypoplasia of the brainstem
OMIM:612389	TSEN2	80746	HP:0000007	Autosomal recessive inheritance
OMIM:612389	TSEN2	80746	HP:0003487	Babinski sign
OMIM:612389	TSEN2	80746	HP:0002059	Cerebral atrophy
OMIM:612389	TSEN2	80746	HP:0002509	Limb hypertonia
OMIM:612389	TSEN2	80746	HP:0000340	Sloping forehead
OMIM:612389	TSEN2	80746	HP:0001321	Cerebellar hypoplasia
OMIM:612389	TSEN2	80746	HP:0001332	Dystonia
OMIM:612389	TSEN2	80746	HP:0002169	Clonus
OMIM:612389	TSEN2	80746	HP:0009879	Cortical gyral simplification
OMIM:612389	TSEN2	80746	HP:0000252	Microcephaly
OMIM:612389	TSEN2	80746	HP:0011968	Feeding difficulties
OMIM:613375	BLK	640	HP:0000006	Autosomal dominant inheritance
OMIM:613375	BLK	640	HP:0001513	Obesity
OMIM:613375	CEL	1056	HP:0000006	Autosomal dominant inheritance
OMIM:613375	CEL	1056	HP:0001513	Obesity
OMIM:613375	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:613375	PDX1	3651	HP:0001513	Obesity
OMIM:613375	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:613375	HNF4A	3172	HP:0001513	Obesity
OMIM:613375	APPL1	26060	HP:0000006	Autosomal dominant inheritance
OMIM:613375	APPL1	26060	HP:0001513	Obesity
OMIM:613375	KLF11	8462	HP:0000006	Autosomal dominant inheritance
OMIM:613375	KLF11	8462	HP:0001513	Obesity
OMIM:613375	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:613375	INS	3630	HP:0001513	Obesity
OMIM:613375	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:613375	HNF1A	6927	HP:0001513	Obesity
OMIM:613375	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:613375	ABCC8	6833	HP:0001513	Obesity
OMIM:613375	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:613375	GCK	2645	HP:0001513	Obesity
OMIM:613375	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:613375	PAX4	5078	HP:0001513	Obesity
OMIM:613375	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:613375	KCNJ11	3767	HP:0001513	Obesity
OMIM:613375	NEUROD1	4760	HP:0000006	Autosomal dominant inheritance
OMIM:613375	NEUROD1	4760	HP:0001513	Obesity
OMIM:204200	CLN3	1201	HP:0000648	Optic atrophy
OMIM:204200	CLN3	1201	HP:0000739	Anxiety
OMIM:204200	CLN3	1201	HP:0001249	Intellectual disability
OMIM:204200	CLN3	1201	HP:0002059	Cerebral atrophy
OMIM:204200	CLN3	1201	HP:0001300	Parkinsonism
OMIM:204200	CLN3	1201	HP:0000529	Progressive visual loss
OMIM:204200	CLN3	1201	HP:0001250	Seizures
OMIM:204200	CLN3	1201	HP:0000608	Macular degeneration
OMIM:204200	CLN3	1201	HP:0001336	Myoclonus
OMIM:204200	CLN3	1201	HP:0001260	Dysarthria
OMIM:204200	CLN3	1201	HP:0001317	Abnormality of the cerebellum
OMIM:204200	CLN3	1201	HP:0000007	Autosomal recessive inheritance
OMIM:204200	CLN3	1201	HP:0002505	Progressive inability to walk
OMIM:204200	CLN3	1201	HP:0000510	Rod-cone dystrophy
OMIM:204200	CLN3	1201	HP:0000726	Dementia
OMIM:204200	CLN3	1201	HP:0000550	Undetectable electroretinogram
OMIM:204200	CLN3	1201	HP:0000709	Psychosis
OMIM:204200	CLN3	1201	HP:0000618	Blindness
OMIM:613345	KCNE3	10008	HP:0003198	Myopathy
OMIM:613345	KCNE3	10008	HP:0000006	Autosomal dominant inheritance
OMIM:613345	KCNE3	10008	HP:0003812	Phenotypic variability
OMIM:613345	SCN4A	6329	HP:0003198	Myopathy
OMIM:613345	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:613345	SCN4A	6329	HP:0003812	Phenotypic variability
OMIM:613345	CACNA1S	779	HP:0003198	Myopathy
OMIM:613345	CACNA1S	779	HP:0000006	Autosomal dominant inheritance
OMIM:613345	CACNA1S	779	HP:0003812	Phenotypic variability
OMIM:616140	RARS	5917	HP:0000252	Microcephaly
OMIM:616140	RARS	5917	HP:0001310	Dysmetria
OMIM:616140	RARS	5917	HP:0001260	Dysarthria
OMIM:616140	RARS	5917	HP:0002415	Leukodystrophy
OMIM:616140	RARS	5917	HP:0001263	Global developmental delay
OMIM:616140	RARS	5917	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:616140	RARS	5917	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616140	RARS	5917	HP:0000639	Nystagmus
OMIM:616140	RARS	5917	HP:0001347	Hyperreflexia
OMIM:614569	IDH1	3417	HP:0004418	Thrombophlebitis
OMIM:614569	IDH1	3417	HP:0100242	Sarcoma
OMIM:614569	IDH1	3417	HP:0100615	Ovarian neoplasm
OMIM:614569	IDH1	3417	HP:0000951	Abnormality of the skin
OMIM:614569	IDH1	3417	HP:0004322	Short stature
OMIM:614569	IDH1	3417	HP:0008872	Feeding difficulties in infancy
OMIM:614569	IDH1	3417	HP:0100777	Exostoses
OMIM:614569	IDH1	3417	HP:0000853	Goiter
OMIM:614569	IDH1	3417	HP:0002797	Osteolysis
OMIM:614569	IDH1	3417	HP:0002653	Bone pain
OMIM:614569	IDH1	3417	HP:0006824	Cranial nerve paralysis
OMIM:614569	IDH1	3417	HP:0002093	Respiratory insufficiency
OMIM:614569	IDH1	3417	HP:0001367	Abnormal joint morphology
OMIM:614569	IDH1	3417	HP:0002757	Recurrent fractures
OMIM:614569	IDH1	3417	HP:0100013	Neoplasm of the breast
OMIM:614569	IDH1	3417	HP:0002650	Scoliosis
OMIM:614569	IDH1	3417	HP:0004375	Neoplasm of the nervous system
OMIM:614569	IDH2	3418	HP:0004418	Thrombophlebitis
OMIM:614569	IDH2	3418	HP:0100242	Sarcoma
OMIM:614569	IDH2	3418	HP:0100615	Ovarian neoplasm
OMIM:614569	IDH2	3418	HP:0000951	Abnormality of the skin
OMIM:614569	IDH2	3418	HP:0004322	Short stature
OMIM:614569	IDH2	3418	HP:0008872	Feeding difficulties in infancy
OMIM:614569	IDH2	3418	HP:0100777	Exostoses
OMIM:614569	IDH2	3418	HP:0000853	Goiter
OMIM:614569	IDH2	3418	HP:0002797	Osteolysis
OMIM:614569	IDH2	3418	HP:0002653	Bone pain
OMIM:614569	IDH2	3418	HP:0006824	Cranial nerve paralysis
OMIM:614569	IDH2	3418	HP:0002093	Respiratory insufficiency
OMIM:614569	IDH2	3418	HP:0001367	Abnormal joint morphology
OMIM:614569	IDH2	3418	HP:0002757	Recurrent fractures
OMIM:614569	IDH2	3418	HP:0100013	Neoplasm of the breast
OMIM:614569	IDH2	3418	HP:0002650	Scoliosis
OMIM:614569	IDH2	3418	HP:0004375	Neoplasm of the nervous system
OMIM:610678	TUFM	7284	HP:0000252	Microcephaly
OMIM:610678	TUFM	7284	HP:0000007	Autosomal recessive inheritance
OMIM:610678	TUFM	7284	HP:0001942	Metabolic acidosis
OMIM:610678	TUFM	7284	HP:0002179	Opisthotonus
OMIM:610678	TUFM	7284	HP:0003128	Lactic acidosis
OMIM:610678	TUFM	7284	HP:0002376	Developmental regression
OMIM:610678	TUFM	7284	HP:0001522	Death in infancy
OMIM:610678	TUFM	7284	HP:0002126	Polymicrogyria
OMIM:610678	TUFM	7284	HP:0000639	Nystagmus
OMIM:610678	TUFM	7284	HP:0002240	Hepatomegaly
OMIM:610678	TUFM	7284	HP:0001987	Hyperammonemia
OMIM:601457	RAG1	5896	HP:0001508	Failure to thrive
OMIM:601457	RAG1	5896	HP:0003139	Panhypogammaglobulinemia
OMIM:601457	RAG1	5896	HP:0010976	B lymphocytopenia
OMIM:601457	RAG1	5896	HP:0004430	Severe combined immunodeficiency
OMIM:601457	RAG1	5896	HP:0002090	Pneumonia
OMIM:601457	RAG1	5896	HP:0000007	Autosomal recessive inheritance
OMIM:601457	RAG1	5896	HP:0001287	Meningitis
OMIM:601457	RAG1	5896	HP:0002014	Diarrhea
OMIM:601457	RAG1	5896	HP:0000509	Conjunctivitis
OMIM:601457	RAG1	5896	HP:0001369	Arthritis
OMIM:601457	RAG1	5896	HP:0000388	Otitis media
OMIM:601457	RAG2	5897	HP:0001508	Failure to thrive
OMIM:601457	RAG2	5897	HP:0003139	Panhypogammaglobulinemia
OMIM:601457	RAG2	5897	HP:0010976	B lymphocytopenia
OMIM:601457	RAG2	5897	HP:0004430	Severe combined immunodeficiency
OMIM:601457	RAG2	5897	HP:0002090	Pneumonia
OMIM:601457	RAG2	5897	HP:0000007	Autosomal recessive inheritance
OMIM:601457	RAG2	5897	HP:0001287	Meningitis
OMIM:601457	RAG2	5897	HP:0002014	Diarrhea
OMIM:601457	RAG2	5897	HP:0000509	Conjunctivitis
OMIM:601457	RAG2	5897	HP:0001369	Arthritis
OMIM:601457	RAG2	5897	HP:0000388	Otitis media
OMIM:244450	UBE3B	89910	HP:0000218	High palate
OMIM:244450	UBE3B	89910	HP:0003300	Ovoid vertebral bodies
OMIM:244450	UBE3B	89910	HP:0000384	Preauricular skin tag
OMIM:244450	UBE3B	89910	HP:0000252	Microcephaly
OMIM:244450	UBE3B	89910	HP:0000581	Blepharophimosis
OMIM:244450	UBE3B	89910	HP:0000275	Narrow face
OMIM:244450	UBE3B	89910	HP:0000276	Long face
OMIM:244450	UBE3B	89910	HP:0002648	Abnormality of calvarial morphology
OMIM:244450	UBE3B	89910	HP:0100543	Cognitive impairment
OMIM:244450	UBE3B	89910	HP:0000545	Myopia
OMIM:244450	UBE3B	89910	HP:0000233	Thin vermilion border
OMIM:244450	UBE3B	89910	HP:0000174	Abnormality of the palate
OMIM:244450	UBE3B	89910	HP:0000639	Nystagmus
OMIM:244450	UBE3B	89910	HP:0001249	Intellectual disability
OMIM:244450	UBE3B	89910	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:244450	UBE3B	89910	HP:0000007	Autosomal recessive inheritance
OMIM:244450	UBE3B	89910	HP:0000506	Telecanthus
OMIM:244450	UBE3B	89910	HP:0001139	Choroideremia
OMIM:244450	UBE3B	89910	HP:0000582	Upslanted palpebral fissure
OMIM:244450	UBE3B	89910	HP:0000154	Wide mouth
OMIM:244450	UBE3B	89910	HP:0000322	Short philtrum
OMIM:244450	UBE3B	89910	HP:0004209	Clinodactyly of the 5th finger
OMIM:244450	UBE3B	89910	HP:0001324	Muscle weakness
OMIM:244450	UBE3B	89910	HP:0000482	Microcornea
OMIM:244450	UBE3B	89910	HP:0000219	Thin upper lip vermilion
OMIM:244450	UBE3B	89910	HP:0002093	Respiratory insufficiency
OMIM:244450	UBE3B	89910	HP:0000535	Sparse eyebrow
OMIM:244450	UBE3B	89910	HP:0001591	Bell-shaped thorax
OMIM:244450	UBE3B	89910	HP:0000286	Epicanthus
OMIM:244450	UBE3B	89910	HP:0000691	Microdontia
OMIM:244450	UBE3B	89910	HP:0000486	Strabismus
OMIM:244450	UBE3B	89910	HP:0010511	Long toe
OMIM:244450	UBE3B	89910	HP:0000248	Brachycephaly
OMIM:244450	UBE3B	89910	HP:0001166	Arachnodactyly
OMIM:244450	UBE3B	89910	HP:0003196	Short nose
OMIM:244450	UBE3B	89910	HP:0000347	Micrognathia
OMIM:244450	UBE3B	89910	HP:0000954	Single transverse palmar crease
OMIM:244450	UBE3B	89910	HP:0000670	Carious teeth
OMIM:244450	UBE3B	89910	HP:0001252	Muscular hypotonia
OMIM:244450	UBE3B	89910	HP:0002019	Constipation
OMIM:244450	UBE3B	89910	HP:0000319	Smooth philtrum
OMIM:244450	UBE3B	89910	HP:0000508	Ptosis
OMIM:244450	UBE3B	89910	HP:0000057	Clitoromegaly
OMIM:244450	UBE3B	89910	HP:0001840	Metatarsus adductus
OMIM:244450	UBE3B	89910	HP:0010458	Female pseudohermaphroditism
OMIM:244450	UBE3B	89910	HP:0000543	Optic disc pallor
OMIM:244450	UBE3B	89910	HP:0000648	Optic atrophy
OMIM:616603	FBLN5	10516	HP:0000519	Congenital cataract
OMIM:616603	FBLN5	10516	HP:0002677	Small foramen magnum
OMIM:616603	FBLN5	10516	HP:0001762	Talipes equinovarus
OMIM:616603	FBLN5	10516	HP:0000938	Osteopenia
OMIM:616603	FBLN5	10516	HP:0000122	Unilateral renal agenesis
OMIM:616603	FBLN5	10516	HP:0000369	Low-set ears
OMIM:616603	FBLN5	10516	HP:0002645	Wormian bones
OMIM:616603	FBLN5	10516	HP:0000252	Microcephaly
OMIM:616603	FBLN5	10516	HP:0000270	Delayed cranial suture closure
OMIM:616603	FBLN5	10516	HP:0001348	Brisk reflexes
OMIM:616603	FBLN5	10516	HP:0001263	Global developmental delay
OMIM:616603	FBLN5	10516	HP:0000325	Triangular face
OMIM:616603	FBLN5	10516	HP:0001252	Muscular hypotonia
OMIM:616603	FBLN5	10516	HP:0100678	Premature skin wrinkling
OMIM:616603	FBLN5	10516	HP:0007957	Corneal opacity
OMIM:616603	FBLN5	10516	HP:0000337	Broad forehead
OMIM:616603	FBLN5	10516	HP:0001181	Adducted thumb
OMIM:616603	FBLN5	10516	HP:0011220	Prominent forehead
OMIM:616603	FBLN5	10516	HP:0000486	Strabismus
OMIM:616603	FBLN5	10516	HP:0000729	Autistic behavior
OMIM:616603	FBLN5	10516	HP:0100790	Hernia
OMIM:616603	FBLN5	10516	HP:0001511	Intrauterine growth retardation
OMIM:616603	FBLN5	10516	HP:0002827	Hip dislocation
OMIM:616603	FBLN5	10516	HP:0001659	Aortic regurgitation
OMIM:616603	FBLN5	10516	HP:0000973	Cutis laxa
OMIM:616603	FBLN5	10516	HP:0000411	Protruding ear
OMIM:616603	FBLN5	10516	HP:0011968	Feeding difficulties
OMIM:616603	ELN	2006	HP:0000519	Congenital cataract
OMIM:616603	ELN	2006	HP:0002677	Small foramen magnum
OMIM:616603	ELN	2006	HP:0001762	Talipes equinovarus
OMIM:616603	ELN	2006	HP:0000938	Osteopenia
OMIM:616603	ELN	2006	HP:0000122	Unilateral renal agenesis
OMIM:616603	ELN	2006	HP:0000369	Low-set ears
OMIM:616603	ELN	2006	HP:0002645	Wormian bones
OMIM:616603	ELN	2006	HP:0000252	Microcephaly
OMIM:616603	ELN	2006	HP:0000270	Delayed cranial suture closure
OMIM:616603	ELN	2006	HP:0001348	Brisk reflexes
OMIM:616603	ELN	2006	HP:0001263	Global developmental delay
OMIM:616603	ELN	2006	HP:0000325	Triangular face
OMIM:616603	ELN	2006	HP:0001252	Muscular hypotonia
OMIM:616603	ELN	2006	HP:0100678	Premature skin wrinkling
OMIM:616603	ELN	2006	HP:0007957	Corneal opacity
OMIM:616603	ELN	2006	HP:0000337	Broad forehead
OMIM:616603	ELN	2006	HP:0001181	Adducted thumb
OMIM:616603	ELN	2006	HP:0011220	Prominent forehead
OMIM:616603	ELN	2006	HP:0000486	Strabismus
OMIM:616603	ELN	2006	HP:0000729	Autistic behavior
OMIM:616603	ELN	2006	HP:0100790	Hernia
OMIM:616603	ELN	2006	HP:0001511	Intrauterine growth retardation
OMIM:616603	ELN	2006	HP:0002827	Hip dislocation
OMIM:616603	ELN	2006	HP:0001659	Aortic regurgitation
OMIM:616603	ELN	2006	HP:0000973	Cutis laxa
OMIM:616603	ELN	2006	HP:0000411	Protruding ear
OMIM:616603	ELN	2006	HP:0011968	Feeding difficulties
OMIM:616603	ALDH18A1	5832	HP:0000519	Congenital cataract
OMIM:616603	ALDH18A1	5832	HP:0002677	Small foramen magnum
OMIM:616603	ALDH18A1	5832	HP:0001762	Talipes equinovarus
OMIM:616603	ALDH18A1	5832	HP:0000938	Osteopenia
OMIM:616603	ALDH18A1	5832	HP:0000122	Unilateral renal agenesis
OMIM:616603	ALDH18A1	5832	HP:0000369	Low-set ears
OMIM:616603	ALDH18A1	5832	HP:0002645	Wormian bones
OMIM:616603	ALDH18A1	5832	HP:0000252	Microcephaly
OMIM:616603	ALDH18A1	5832	HP:0000270	Delayed cranial suture closure
OMIM:616603	ALDH18A1	5832	HP:0001348	Brisk reflexes
OMIM:616603	ALDH18A1	5832	HP:0001263	Global developmental delay
OMIM:616603	ALDH18A1	5832	HP:0000325	Triangular face
OMIM:616603	ALDH18A1	5832	HP:0001252	Muscular hypotonia
OMIM:616603	ALDH18A1	5832	HP:0100678	Premature skin wrinkling
OMIM:616603	ALDH18A1	5832	HP:0007957	Corneal opacity
OMIM:616603	ALDH18A1	5832	HP:0000337	Broad forehead
OMIM:616603	ALDH18A1	5832	HP:0001181	Adducted thumb
OMIM:616603	ALDH18A1	5832	HP:0011220	Prominent forehead
OMIM:616603	ALDH18A1	5832	HP:0000486	Strabismus
OMIM:616603	ALDH18A1	5832	HP:0000729	Autistic behavior
OMIM:616603	ALDH18A1	5832	HP:0100790	Hernia
OMIM:616603	ALDH18A1	5832	HP:0001511	Intrauterine growth retardation
OMIM:616603	ALDH18A1	5832	HP:0002827	Hip dislocation
OMIM:616603	ALDH18A1	5832	HP:0001659	Aortic regurgitation
OMIM:616603	ALDH18A1	5832	HP:0000973	Cutis laxa
OMIM:616603	ALDH18A1	5832	HP:0000411	Protruding ear
OMIM:616603	ALDH18A1	5832	HP:0011968	Feeding difficulties
OMIM:163500	SLC24A1	9187	HP:0000006	Autosomal dominant inheritance
OMIM:163500	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:163500	GRM6	2916	HP:0000006	Autosomal dominant inheritance
OMIM:163500	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:163500	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:163500	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:163500	CACNA1F	778	HP:0000006	Autosomal dominant inheritance
OMIM:163500	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:163500	LRIT3	345193	HP:0000006	Autosomal dominant inheritance
OMIM:163500	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:163500	CABP4	57010	HP:0000006	Autosomal dominant inheritance
OMIM:163500	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:163500	CACNA2D4	93589	HP:0000006	Autosomal dominant inheritance
OMIM:163500	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:163500	TRPM1	4308	HP:0000006	Autosomal dominant inheritance
OMIM:163500	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:163500	GPR179	440435	HP:0000006	Autosomal dominant inheritance
OMIM:163500	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:163500	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:163500	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:163500	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:163500	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:163500	NYX	60506	HP:0000006	Autosomal dominant inheritance
OMIM:163500	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:163500	GNAT1	2779	HP:0000006	Autosomal dominant inheritance
OMIM:163500	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:163500	GRK1	6011	HP:0000006	Autosomal dominant inheritance
OMIM:163500	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:605909	PACRG	135138	HP:0002063	Rigidity
OMIM:605909	PACRG	135138	HP:0000012	Urinary urgency
OMIM:605909	PACRG	135138	HP:0001300	Parkinsonism
OMIM:605909	PACRG	135138	HP:0001347	Hyperreflexia
OMIM:605909	PACRG	135138	HP:0000007	Autosomal recessive inheritance
OMIM:605909	PACRG	135138	HP:0001332	Dystonia
OMIM:605909	PACRG	135138	HP:0003593	Infantile onset
OMIM:605909	PACRG	135138	HP:0002067	Bradykinesia
OMIM:605909	PACRG	135138	HP:0002172	Postural instability
OMIM:605909	PACRG	135138	HP:0000739	Anxiety
OMIM:605909	PACRG	135138	HP:0000726	Dementia
OMIM:605909	PACRG	135138	HP:0000716	Depression
OMIM:605909	PACRG	135138	HP:0003677	Slow progression
OMIM:605909	UCHL1	7345	HP:0002063	Rigidity
OMIM:605909	UCHL1	7345	HP:0000012	Urinary urgency
OMIM:605909	UCHL1	7345	HP:0001300	Parkinsonism
OMIM:605909	UCHL1	7345	HP:0001347	Hyperreflexia
OMIM:605909	UCHL1	7345	HP:0000007	Autosomal recessive inheritance
OMIM:605909	UCHL1	7345	HP:0001332	Dystonia
OMIM:605909	UCHL1	7345	HP:0003593	Infantile onset
OMIM:605909	UCHL1	7345	HP:0002067	Bradykinesia
OMIM:605909	UCHL1	7345	HP:0002172	Postural instability
OMIM:605909	UCHL1	7345	HP:0000739	Anxiety
OMIM:605909	UCHL1	7345	HP:0000726	Dementia
OMIM:605909	UCHL1	7345	HP:0000716	Depression
OMIM:605909	UCHL1	7345	HP:0003677	Slow progression
OMIM:605909	PARK7	11315	HP:0002063	Rigidity
OMIM:605909	PARK7	11315	HP:0000012	Urinary urgency
OMIM:605909	PARK7	11315	HP:0001300	Parkinsonism
OMIM:605909	PARK7	11315	HP:0001347	Hyperreflexia
OMIM:605909	PARK7	11315	HP:0000007	Autosomal recessive inheritance
OMIM:605909	PARK7	11315	HP:0001332	Dystonia
OMIM:605909	PARK7	11315	HP:0003593	Infantile onset
OMIM:605909	PARK7	11315	HP:0002067	Bradykinesia
OMIM:605909	PARK7	11315	HP:0002172	Postural instability
OMIM:605909	PARK7	11315	HP:0000739	Anxiety
OMIM:605909	PARK7	11315	HP:0000726	Dementia
OMIM:605909	PARK7	11315	HP:0000716	Depression
OMIM:605909	PARK7	11315	HP:0003677	Slow progression
OMIM:605909	HTRA2	27429	HP:0002063	Rigidity
OMIM:605909	HTRA2	27429	HP:0000012	Urinary urgency
OMIM:605909	HTRA2	27429	HP:0001300	Parkinsonism
OMIM:605909	HTRA2	27429	HP:0001347	Hyperreflexia
OMIM:605909	HTRA2	27429	HP:0000007	Autosomal recessive inheritance
OMIM:605909	HTRA2	27429	HP:0001332	Dystonia
OMIM:605909	HTRA2	27429	HP:0003593	Infantile onset
OMIM:605909	HTRA2	27429	HP:0002067	Bradykinesia
OMIM:605909	HTRA2	27429	HP:0002172	Postural instability
OMIM:605909	HTRA2	27429	HP:0000739	Anxiety
OMIM:605909	HTRA2	27429	HP:0000726	Dementia
OMIM:605909	HTRA2	27429	HP:0000716	Depression
OMIM:605909	HTRA2	27429	HP:0003677	Slow progression
OMIM:605909	PINK1	65018	HP:0002063	Rigidity
OMIM:605909	PINK1	65018	HP:0000012	Urinary urgency
OMIM:605909	PINK1	65018	HP:0001300	Parkinsonism
OMIM:605909	PINK1	65018	HP:0001347	Hyperreflexia
OMIM:605909	PINK1	65018	HP:0000007	Autosomal recessive inheritance
OMIM:605909	PINK1	65018	HP:0001332	Dystonia
OMIM:605909	PINK1	65018	HP:0003593	Infantile onset
OMIM:605909	PINK1	65018	HP:0002067	Bradykinesia
OMIM:605909	PINK1	65018	HP:0002172	Postural instability
OMIM:605909	PINK1	65018	HP:0000739	Anxiety
OMIM:605909	PINK1	65018	HP:0000726	Dementia
OMIM:605909	PINK1	65018	HP:0000716	Depression
OMIM:605909	PINK1	65018	HP:0003677	Slow progression
OMIM:605909	LRRK2	120892	HP:0002063	Rigidity
OMIM:605909	LRRK2	120892	HP:0000012	Urinary urgency
OMIM:605909	LRRK2	120892	HP:0001300	Parkinsonism
OMIM:605909	LRRK2	120892	HP:0001347	Hyperreflexia
OMIM:605909	LRRK2	120892	HP:0000007	Autosomal recessive inheritance
OMIM:605909	LRRK2	120892	HP:0001332	Dystonia
OMIM:605909	LRRK2	120892	HP:0003593	Infantile onset
OMIM:605909	LRRK2	120892	HP:0002067	Bradykinesia
OMIM:605909	LRRK2	120892	HP:0002172	Postural instability
OMIM:605909	LRRK2	120892	HP:0000739	Anxiety
OMIM:605909	LRRK2	120892	HP:0000726	Dementia
OMIM:605909	LRRK2	120892	HP:0000716	Depression
OMIM:605909	LRRK2	120892	HP:0003677	Slow progression
OMIM:605909	SNCA	6622	HP:0002063	Rigidity
OMIM:605909	SNCA	6622	HP:0000012	Urinary urgency
OMIM:605909	SNCA	6622	HP:0001300	Parkinsonism
OMIM:605909	SNCA	6622	HP:0001347	Hyperreflexia
OMIM:605909	SNCA	6622	HP:0000007	Autosomal recessive inheritance
OMIM:605909	SNCA	6622	HP:0001332	Dystonia
OMIM:605909	SNCA	6622	HP:0003593	Infantile onset
OMIM:605909	SNCA	6622	HP:0002067	Bradykinesia
OMIM:605909	SNCA	6622	HP:0002172	Postural instability
OMIM:605909	SNCA	6622	HP:0000739	Anxiety
OMIM:605909	SNCA	6622	HP:0000726	Dementia
OMIM:605909	SNCA	6622	HP:0000716	Depression
OMIM:605909	SNCA	6622	HP:0003677	Slow progression
OMIM:605909	PARK2	5071	HP:0002063	Rigidity
OMIM:605909	PARK2	5071	HP:0000012	Urinary urgency
OMIM:605909	PARK2	5071	HP:0001300	Parkinsonism
OMIM:605909	PARK2	5071	HP:0001347	Hyperreflexia
OMIM:605909	PARK2	5071	HP:0000007	Autosomal recessive inheritance
OMIM:605909	PARK2	5071	HP:0001332	Dystonia
OMIM:605909	PARK2	5071	HP:0003593	Infantile onset
OMIM:605909	PARK2	5071	HP:0002067	Bradykinesia
OMIM:605909	PARK2	5071	HP:0002172	Postural instability
OMIM:605909	PARK2	5071	HP:0000739	Anxiety
OMIM:605909	PARK2	5071	HP:0000726	Dementia
OMIM:605909	PARK2	5071	HP:0000716	Depression
OMIM:605909	PARK2	5071	HP:0003677	Slow progression
OMIM:530000	RRM2B	50484	HP:0007703	Abnormality of retinal pigmentation
OMIM:530000	RRM2B	50484	HP:0001427	Mitochondrial inheritance
OMIM:530000	RRM2B	50484	HP:0001638	Cardiomyopathy
OMIM:530000	RRM2B	50484	HP:0002311	Incoordination
OMIM:530000	RRM2B	50484	HP:0003202	Skeletal muscle atrophy
OMIM:530000	RRM2B	50484	HP:0001250	Seizures
OMIM:530000	RRM2B	50484	HP:0004322	Short stature
OMIM:530000	RRM2B	50484	HP:0000819	Diabetes mellitus
OMIM:530000	RRM2B	50484	HP:0001324	Muscle weakness
OMIM:530000	RRM2B	50484	HP:0000726	Dementia
OMIM:530000	RRM2B	50484	HP:0002750	Delayed skeletal maturation
OMIM:530000	RRM2B	50484	HP:0001252	Muscular hypotonia
OMIM:530000	RRM2B	50484	HP:0003128	Lactic acidosis
OMIM:530000	RRM2B	50484	HP:0000407	Sensorineural hearing impairment
OMIM:530000	RRM2B	50484	HP:0000508	Ptosis
OMIM:530000	RRM2B	50484	HP:0000252	Microcephaly
OMIM:530000	RRM2B	50484	HP:0001251	Ataxia
OMIM:530000	RRM2B	50484	HP:0002922	Increased CSF protein
OMIM:530000	RRM2B	50484	HP:0008207	Primary adrenal insufficiency
OMIM:530000	RRM2B	50484	HP:0000830	Anterior hypopituitarism
OMIM:530000	RRM2B	50484	HP:0000763	Sensory neuropathy
OMIM:530000	RRM2B	50484	HP:0000597	Ophthalmoparesis
OMIM:530000	RRM2B	50484	HP:0002135	Basal ganglia calcification
OMIM:530000	RRM2B	50484	HP:0004374	Hemiplegia/hemiparesis
OMIM:530000	RRM2B	50484	HP:0000365	Hearing impairment
OMIM:530000	RRM2B	50484	HP:0000580	Pigmentary retinopathy
OMIM:530000	RRM2B	50484	HP:0003457	EMG abnormality
OMIM:530000	RRM2B	50484	HP:0001315	Reduced tendon reflexes
OMIM:530000	RRM2B	50484	HP:0011675	Arrhythmia
OMIM:530000	RRM2B	50484	HP:0000829	Hypoparathyroidism
OMIM:530000	TRNL1	4567	HP:0007703	Abnormality of retinal pigmentation
OMIM:530000	TRNL1	4567	HP:0001427	Mitochondrial inheritance
OMIM:530000	TRNL1	4567	HP:0001638	Cardiomyopathy
OMIM:530000	TRNL1	4567	HP:0002311	Incoordination
OMIM:530000	TRNL1	4567	HP:0003202	Skeletal muscle atrophy
OMIM:530000	TRNL1	4567	HP:0001250	Seizures
OMIM:530000	TRNL1	4567	HP:0004322	Short stature
OMIM:530000	TRNL1	4567	HP:0000819	Diabetes mellitus
OMIM:530000	TRNL1	4567	HP:0001324	Muscle weakness
OMIM:530000	TRNL1	4567	HP:0000726	Dementia
OMIM:530000	TRNL1	4567	HP:0002750	Delayed skeletal maturation
OMIM:530000	TRNL1	4567	HP:0001252	Muscular hypotonia
OMIM:530000	TRNL1	4567	HP:0003128	Lactic acidosis
OMIM:530000	TRNL1	4567	HP:0000407	Sensorineural hearing impairment
OMIM:530000	TRNL1	4567	HP:0000508	Ptosis
OMIM:530000	TRNL1	4567	HP:0000252	Microcephaly
OMIM:530000	TRNL1	4567	HP:0001251	Ataxia
OMIM:530000	TRNL1	4567	HP:0002922	Increased CSF protein
OMIM:530000	TRNL1	4567	HP:0008207	Primary adrenal insufficiency
OMIM:530000	TRNL1	4567	HP:0000830	Anterior hypopituitarism
OMIM:530000	TRNL1	4567	HP:0000763	Sensory neuropathy
OMIM:530000	TRNL1	4567	HP:0000597	Ophthalmoparesis
OMIM:530000	TRNL1	4567	HP:0002135	Basal ganglia calcification
OMIM:530000	TRNL1	4567	HP:0004374	Hemiplegia/hemiparesis
OMIM:530000	TRNL1	4567	HP:0000365	Hearing impairment
OMIM:530000	TRNL1	4567	HP:0000580	Pigmentary retinopathy
OMIM:530000	TRNL1	4567	HP:0003457	EMG abnormality
OMIM:530000	TRNL1	4567	HP:0001315	Reduced tendon reflexes
OMIM:530000	TRNL1	4567	HP:0011675	Arrhythmia
OMIM:530000	TRNL1	4567	HP:0000829	Hypoparathyroidism
OMIM:530000	ATP8	4509	HP:0007703	Abnormality of retinal pigmentation
OMIM:530000	ATP8	4509	HP:0001427	Mitochondrial inheritance
OMIM:530000	ATP8	4509	HP:0001638	Cardiomyopathy
OMIM:530000	ATP8	4509	HP:0002311	Incoordination
OMIM:530000	ATP8	4509	HP:0003202	Skeletal muscle atrophy
OMIM:530000	ATP8	4509	HP:0001250	Seizures
OMIM:530000	ATP8	4509	HP:0004322	Short stature
OMIM:530000	ATP8	4509	HP:0000819	Diabetes mellitus
OMIM:530000	ATP8	4509	HP:0001324	Muscle weakness
OMIM:530000	ATP8	4509	HP:0000726	Dementia
OMIM:530000	ATP8	4509	HP:0002750	Delayed skeletal maturation
OMIM:530000	ATP8	4509	HP:0001252	Muscular hypotonia
OMIM:530000	ATP8	4509	HP:0003128	Lactic acidosis
OMIM:530000	ATP8	4509	HP:0000407	Sensorineural hearing impairment
OMIM:530000	ATP8	4509	HP:0000508	Ptosis
OMIM:530000	ATP8	4509	HP:0000252	Microcephaly
OMIM:530000	ATP8	4509	HP:0001251	Ataxia
OMIM:530000	ATP8	4509	HP:0002922	Increased CSF protein
OMIM:530000	ATP8	4509	HP:0008207	Primary adrenal insufficiency
OMIM:530000	ATP8	4509	HP:0000830	Anterior hypopituitarism
OMIM:530000	ATP8	4509	HP:0000763	Sensory neuropathy
OMIM:530000	ATP8	4509	HP:0000597	Ophthalmoparesis
OMIM:530000	ATP8	4509	HP:0002135	Basal ganglia calcification
OMIM:530000	ATP8	4509	HP:0004374	Hemiplegia/hemiparesis
OMIM:530000	ATP8	4509	HP:0000365	Hearing impairment
OMIM:530000	ATP8	4509	HP:0000580	Pigmentary retinopathy
OMIM:530000	ATP8	4509	HP:0003457	EMG abnormality
OMIM:530000	ATP8	4509	HP:0001315	Reduced tendon reflexes
OMIM:530000	ATP8	4509	HP:0011675	Arrhythmia
OMIM:530000	ATP8	4509	HP:0000829	Hypoparathyroidism
OMIM:115700	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:115700	CRYAA	1409	HP:0000519	Congenital cataract
OMIM:115700	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:115700	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:115700	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:115700	CRYBA4	1413	HP:0000519	Congenital cataract
OMIM:115700	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:115700	CRYBB1	1414	HP:0000519	Congenital cataract
OMIM:115700	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:115700	AGK	55750	HP:0000519	Congenital cataract
OMIM:115700	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:115700	CRYBB2	1415	HP:0000519	Congenital cataract
OMIM:115700	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:115700	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:115700	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:115700	CRYGC	1420	HP:0000519	Congenital cataract
OMIM:115700	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:115700	CRYGD	1421	HP:0000519	Congenital cataract
OMIM:115700	MAF	4094	HP:0000006	Autosomal dominant inheritance
OMIM:115700	MAF	4094	HP:0000519	Congenital cataract
OMIM:115700	GJA8	2703	HP:0000006	Autosomal dominant inheritance
OMIM:115700	GJA8	2703	HP:0000519	Congenital cataract
OMIM:613443	MEF2C	4208	HP:0001250	Seizures
OMIM:613443	MEF2C	4208	HP:0000322	Short philtrum
OMIM:613443	MEF2C	4208	HP:0000717	Autism
OMIM:613443	MEF2C	4208	HP:0000463	Anteverted nares
OMIM:613443	MEF2C	4208	HP:0000486	Strabismus
OMIM:613443	MEF2C	4208	HP:0005280	Depressed nasal bridge
OMIM:613443	MEF2C	4208	HP:0002518	Abnormality of the periventricular white matter
OMIM:613443	MEF2C	4208	HP:0002119	Ventriculomegaly
OMIM:613443	MEF2C	4208	HP:0000490	Deeply set eye
OMIM:613443	MEF2C	4208	HP:0001252	Muscular hypotonia
OMIM:613443	MEF2C	4208	HP:0001270	Motor delay
OMIM:613443	MEF2C	4208	HP:0002167	Neurological speech impairment
OMIM:613443	MEF2C	4208	HP:0000574	Thick eyebrow
OMIM:613443	MEF2C	4208	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:613443	MEF2C	4208	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613443	MEF2C	4208	HP:0010864	Intellectual disability, severe
OMIM:613443	MEF2C	4208	HP:0000331	Short chin
OMIM:613443	MEF2C	4208	HP:0000337	Broad forehead
OMIM:613443	MEF2C	4208	HP:0200134	Epileptic encephalopathy
OMIM:613443	MEF2C	4208	HP:0000648	Optic atrophy
OMIM:613443	MEF2C	4208	HP:0000348	High forehead
OMIM:613443	MEF2C	4208	HP:0000733	Stereotypic behavior
OMIM:613443	MEF2C	4208	HP:0000194	Open mouth
OMIM:613443	MEF2C	4208	HP:0000369	Low-set ears
OMIM:613443	MEF2C	4208	HP:0000582	Upslanted palpebral fissure
OMIM:613443	MEF2C	4208	HP:0003196	Short nose
OMIM:613443	MEF2C	4208	HP:0100543	Cognitive impairment
OMIM:613443	MEF2C	4208	HP:0001770	Toe syndactyly
OMIM:613443	MEF2C	4208	HP:0002714	Downturned corners of mouth
OMIM:613443	MEF2C	4208	HP:0002540	Inability to walk
OMIM:613443	MEF2C	4208	HP:0002120	Cerebral cortical atrophy
OMIM:613443	MEF2C	4208	HP:0000316	Hypertelorism
OMIM:241600	B2M	567	HP:0003073	Hypoalbuminemia
OMIM:241600	B2M	567	HP:0000007	Autosomal recessive inheritance
OMIM:241600	B2M	567	HP:0004315	IgG deficiency
OMIM:241600	B2M	567	HP:0003075	Hypoproteinemia
OMIM:241600	B2M	567	HP:0003022	Hypoplasia of the ulna
OMIM:241600	B2M	567	HP:0002986	Radial bowing
OMIM:604131	HBA2	3040	HP:0001789	Hydrops fetalis
OMIM:604131	HBA2	3040	HP:0002863	Myelodysplasia
OMIM:604131	HBA2	3040	HP:0001744	Splenomegaly
OMIM:604131	HBA2	3040	HP:0010978	Abnormality of immune system physiology
OMIM:604131	HBA2	3040	HP:0100543	Cognitive impairment
OMIM:604131	HBA2	3040	HP:0001080	Biliary tract abnormality
OMIM:604131	HBA2	3040	HP:0001878	Hemolytic anemia
OMIM:604131	HBA1	3039	HP:0001789	Hydrops fetalis
OMIM:604131	HBA1	3039	HP:0002863	Myelodysplasia
OMIM:604131	HBA1	3039	HP:0001744	Splenomegaly
OMIM:604131	HBA1	3039	HP:0010978	Abnormality of immune system physiology
OMIM:604131	HBA1	3039	HP:0100543	Cognitive impairment
OMIM:604131	HBA1	3039	HP:0001080	Biliary tract abnormality
OMIM:604131	HBA1	3039	HP:0001878	Hemolytic anemia
OMIM:604777	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:604777	ALOXE3	59344	HP:0001019	Erythroderma
OMIM:604777	ALOXE3	59344	HP:0000982	Palmoplantar keratoderma
OMIM:604777	ALOX12B	242	HP:0000007	Autosomal recessive inheritance
OMIM:604777	ALOX12B	242	HP:0001019	Erythroderma
OMIM:604777	ALOX12B	242	HP:0000982	Palmoplantar keratoderma
OMIM:604777	LIPN	643418	HP:0000007	Autosomal recessive inheritance
OMIM:604777	LIPN	643418	HP:0001019	Erythroderma
OMIM:604777	LIPN	643418	HP:0000982	Palmoplantar keratoderma
OMIM:604777	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:604777	ABCA12	26154	HP:0001019	Erythroderma
OMIM:604777	ABCA12	26154	HP:0000982	Palmoplantar keratoderma
OMIM:604777	CYP4F22	126410	HP:0000007	Autosomal recessive inheritance
OMIM:604777	CYP4F22	126410	HP:0001019	Erythroderma
OMIM:604777	CYP4F22	126410	HP:0000982	Palmoplantar keratoderma
OMIM:604777	TGM1	7051	HP:0000007	Autosomal recessive inheritance
OMIM:604777	TGM1	7051	HP:0001019	Erythroderma
OMIM:604777	TGM1	7051	HP:0000982	Palmoplantar keratoderma
OMIM:604777	NIPAL4	348938	HP:0000007	Autosomal recessive inheritance
OMIM:604777	NIPAL4	348938	HP:0001019	Erythroderma
OMIM:604777	NIPAL4	348938	HP:0000982	Palmoplantar keratoderma
OMIM:616270	AMBN	258	HP:0006297	Hypoplasia of dental enamel
OMIM:616270	AMBN	258	HP:0000007	Autosomal recessive inheritance
OMIM:616270	ENAM	10117	HP:0006297	Hypoplasia of dental enamel
OMIM:616270	ENAM	10117	HP:0000007	Autosomal recessive inheritance
OMIM:616270	LAMB3	3914	HP:0006297	Hypoplasia of dental enamel
OMIM:616270	LAMB3	3914	HP:0000007	Autosomal recessive inheritance
OMIM:616270	ITGB6	3694	HP:0006297	Hypoplasia of dental enamel
OMIM:616270	ITGB6	3694	HP:0000007	Autosomal recessive inheritance
OMIM:612933	LDHA	3939	HP:0002151	Increased serum lactate
OMIM:612933	LDHA	3939	HP:0000083	Renal insufficiency
OMIM:612933	LDHA	3939	HP:0002913	Myoglobinuria
OMIM:612933	LDHA	3939	HP:0003546	Exercise intolerance
OMIM:612933	LDHA	3939	HP:0003394	Muscle cramps
OMIM:612933	LDHA	3939	HP:0002063	Rigidity
OMIM:612933	LDHA	3939	HP:0000007	Autosomal recessive inheritance
OMIM:612933	LDHA	3939	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612933	LDHA	3939	HP:0003542	Increased serum pyruvate
OMIM:612933	LDHA	3939	HP:0003326	Myalgia
OMIM:612933	LDHA	3939	HP:0003621	Juvenile onset
OMIM:612933	LDHA	3939	HP:0003201	Rhabdomyolysis
OMIM:225400	PLOD1	5351	HP:0001382	Joint hypermobility
OMIM:225400	PLOD1	5351	HP:0000098	Tall stature
OMIM:225400	PLOD1	5351	HP:0000987	Atypical scarring of skin
OMIM:225400	PLOD1	5351	HP:0000286	Epicanthus
OMIM:225400	PLOD1	5351	HP:0000501	Glaucoma
OMIM:225400	PLOD1	5351	HP:0001373	Joint dislocation
OMIM:225400	PLOD1	5351	HP:0000974	Hyperextensible skin
OMIM:225400	PLOD1	5351	HP:0002808	Kyphosis
OMIM:225400	PLOD1	5351	HP:0000592	Blue sclerae
OMIM:225400	PLOD1	5351	HP:0001633	Abnormality of the mitral valve
OMIM:225400	PLOD1	5351	HP:0000488	Retinopathy
OMIM:225400	PLOD1	5351	HP:0000541	Retinal detachment
OMIM:225400	PLOD1	5351	HP:0005280	Depressed nasal bridge
OMIM:225400	PLOD1	5351	HP:0002650	Scoliosis
OMIM:225400	PLOD1	5351	HP:0001288	Gait disturbance
OMIM:225400	PLOD1	5351	HP:0000023	Inguinal hernia
OMIM:225400	PLOD1	5351	HP:0001883	Talipes
OMIM:225400	PLOD1	5351	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225400	PLOD1	5351	HP:0000978	Bruising susceptibility
OMIM:225400	PLOD1	5351	HP:0000015	Bladder diverticulum
OMIM:225400	PLOD1	5351	HP:0000563	Keratoconus
OMIM:225400	PLOD1	5351	HP:0000618	Blindness
OMIM:225400	PLOD1	5351	HP:0001252	Muscular hypotonia
OMIM:225400	PLOD1	5351	HP:0001166	Arachnodactyly
OMIM:225400	PLOD1	5351	HP:0001558	Decreased fetal movement
OMIM:225400	PLOD1	5351	HP:0004299	Hernia of the abdominal wall
OMIM:225400	PLOD1	5351	HP:0001762	Talipes equinovarus
OMIM:225400	PLOD1	5351	HP:0000545	Myopia
OMIM:225400	PLOD1	5351	HP:0000939	Osteoporosis
OMIM:225400	PLOD1	5351	HP:0001933	Subcutaneous hemorrhage
OMIM:225400	PLOD1	5351	HP:0003272	Abnormality of the hip bone
OMIM:225400	PLOD1	5351	HP:0000482	Microcornea
OMIM:225400	PLOD1	5351	HP:0001388	Joint laxity
OMIM:225400	PLOD1	5351	HP:0000977	Soft skin
OMIM:225400	PLOD1	5351	HP:0002239	Gastrointestinal hemorrhage
OMIM:225400	PLOD1	5351	HP:0001763	Pes planus
OMIM:225400	PLOD1	5351	HP:0000007	Autosomal recessive inheritance
OMIM:225400	PLOD1	5351	HP:0001270	Motor delay
OMIM:225400	PLOD1	5351	HP:0000505	Visual impairment
OMIM:225400	PLOD1	5351	HP:0000678	Dental crowding
OMIM:225400	PLOD1	5351	HP:0006532	Recurrent pneumonia
OMIM:225400	PLOD1	5351	HP:0001928	Abnormality of coagulation
OMIM:225400	PLOD1	5351	HP:0002093	Respiratory insufficiency
OMIM:225400	PLOD1	5351	HP:0001131	Corneal dystrophy
OMIM:225400	PLOD1	5351	HP:0000963	Thin skin
OMIM:225400	PLOD1	5351	HP:0001635	Congestive heart failure
OMIM:225400	PLOD1	5351	HP:0100689	Decreased corneal thickness
OMIM:614583	ACTG1	71	HP:0000343	Long philtrum
OMIM:614583	ACTG1	71	HP:0000365	Hearing impairment
OMIM:614583	ACTG1	71	HP:0001274	Agenesis of corpus callosum
OMIM:614583	ACTG1	71	HP:0000470	Short neck
OMIM:614583	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:614583	ACTG1	71	HP:0000219	Thin upper lip vermilion
OMIM:614583	ACTG1	71	HP:0001249	Intellectual disability
OMIM:614583	ACTG1	71	HP:0000465	Webbed neck
OMIM:614583	ACTG1	71	HP:0001250	Seizures
OMIM:614583	ACTG1	71	HP:0002553	Highly arched eyebrow
OMIM:614583	ACTG1	71	HP:0000589	Coloboma
OMIM:614583	ACTG1	71	HP:0000278	Retrognathia
OMIM:614583	ACTG1	71	HP:0004322	Short stature
OMIM:614583	ACTG1	71	HP:0000202	Oral cleft
OMIM:614583	ACTG1	71	HP:0000243	Trigonocephaly
OMIM:614583	ACTG1	71	HP:0000377	Abnormality of the pinna
OMIM:614583	ACTG1	71	HP:0005484	Postnatal microcephaly
OMIM:614583	ACTG1	71	HP:0000154	Wide mouth
OMIM:614583	ACTG1	71	HP:0000568	Microphthalmia
OMIM:614583	ACTG1	71	HP:0000508	Ptosis
OMIM:614583	ACTG1	71	HP:0001339	Lissencephaly
OMIM:614583	ACTG1	71	HP:0000316	Hypertelorism
OMIM:614583	ACTG1	71	HP:0000307	Pointed chin
OMIM:614583	ACTG1	71	HP:0002119	Ventriculomegaly
OMIM:614583	ACTB	60	HP:0000343	Long philtrum
OMIM:614583	ACTB	60	HP:0000365	Hearing impairment
OMIM:614583	ACTB	60	HP:0001274	Agenesis of corpus callosum
OMIM:614583	ACTB	60	HP:0000470	Short neck
OMIM:614583	ACTB	60	HP:0000006	Autosomal dominant inheritance
OMIM:614583	ACTB	60	HP:0000219	Thin upper lip vermilion
OMIM:614583	ACTB	60	HP:0001249	Intellectual disability
OMIM:614583	ACTB	60	HP:0000465	Webbed neck
OMIM:614583	ACTB	60	HP:0001250	Seizures
OMIM:614583	ACTB	60	HP:0002553	Highly arched eyebrow
OMIM:614583	ACTB	60	HP:0000589	Coloboma
OMIM:614583	ACTB	60	HP:0000278	Retrognathia
OMIM:614583	ACTB	60	HP:0004322	Short stature
OMIM:614583	ACTB	60	HP:0000202	Oral cleft
OMIM:614583	ACTB	60	HP:0000243	Trigonocephaly
OMIM:614583	ACTB	60	HP:0000377	Abnormality of the pinna
OMIM:614583	ACTB	60	HP:0005484	Postnatal microcephaly
OMIM:614583	ACTB	60	HP:0000154	Wide mouth
OMIM:614583	ACTB	60	HP:0000568	Microphthalmia
OMIM:614583	ACTB	60	HP:0000508	Ptosis
OMIM:614583	ACTB	60	HP:0001339	Lissencephaly
OMIM:614583	ACTB	60	HP:0000316	Hypertelorism
OMIM:614583	ACTB	60	HP:0000307	Pointed chin
OMIM:614583	ACTB	60	HP:0002119	Ventriculomegaly
OMIM:613215	PAFAH1B1	5048	HP:0000494	Downslanted palpebral fissures
OMIM:613215	PAFAH1B1	5048	HP:0001252	Muscular hypotonia
OMIM:613215	PAFAH1B1	5048	HP:0000348	High forehead
OMIM:613215	PAFAH1B1	5048	HP:0002007	Frontal bossing
OMIM:613215	PAFAH1B1	5048	HP:0003272	Abnormality of the hip bone
OMIM:613215	PAFAH1B1	5048	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613215	PAFAH1B1	5048	HP:0004209	Clinodactyly of the 5th finger
OMIM:613215	PAFAH1B1	5048	HP:0100543	Cognitive impairment
OMIM:613215	PAFAH1B1	5048	HP:0000470	Short neck
OMIM:613215	PAFAH1B1	5048	HP:0000160	Narrow mouth
OMIM:613215	PAFAH1B1	5048	HP:0004299	Hernia of the abdominal wall
OMIM:613215	PAFAH1B1	5048	HP:0000316	Hypertelorism
OMIM:613215	PAFAH1B1	5048	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613215	PAFAH1B1	5048	HP:0000098	Tall stature
OMIM:613215	PAFAH1B1	5048	HP:0008736	Hypoplasia of penis
OMIM:613215	PAFAH1B1	5048	HP:0000174	Abnormality of the palate
OMIM:613215	PAFAH1B1	5048	HP:0003196	Short nose
OMIM:613215	PAFAH1B1	5048	HP:0002119	Ventriculomegaly
OMIM:613215	YWHAE	7531	HP:0000494	Downslanted palpebral fissures
OMIM:613215	YWHAE	7531	HP:0001252	Muscular hypotonia
OMIM:613215	YWHAE	7531	HP:0000348	High forehead
OMIM:613215	YWHAE	7531	HP:0002007	Frontal bossing
OMIM:613215	YWHAE	7531	HP:0003272	Abnormality of the hip bone
OMIM:613215	YWHAE	7531	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613215	YWHAE	7531	HP:0004209	Clinodactyly of the 5th finger
OMIM:613215	YWHAE	7531	HP:0100543	Cognitive impairment
OMIM:613215	YWHAE	7531	HP:0000470	Short neck
OMIM:613215	YWHAE	7531	HP:0000160	Narrow mouth
OMIM:613215	YWHAE	7531	HP:0004299	Hernia of the abdominal wall
OMIM:613215	YWHAE	7531	HP:0000316	Hypertelorism
OMIM:613215	YWHAE	7531	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613215	YWHAE	7531	HP:0000098	Tall stature
OMIM:613215	YWHAE	7531	HP:0008736	Hypoplasia of penis
OMIM:613215	YWHAE	7531	HP:0000174	Abnormality of the palate
OMIM:613215	YWHAE	7531	HP:0003196	Short nose
OMIM:613215	YWHAE	7531	HP:0002119	Ventriculomegaly
OMIM:131900	KRT14	3861	HP:0002093	Respiratory insufficiency
OMIM:131900	KRT14	3861	HP:0000975	Hyperhidrosis
OMIM:131900	KRT14	3861	HP:0000508	Ptosis
OMIM:131900	KRT14	3861	HP:0000597	Ophthalmoparesis
OMIM:131900	KRT14	3861	HP:0000682	Abnormality of dental enamel
OMIM:131900	KRT14	3861	HP:0000982	Palmoplantar keratoderma
OMIM:131900	KRT14	3861	HP:0002793	Abnormal pattern of respiration
OMIM:131900	KRT14	3861	HP:0008404	Nail dystrophy
OMIM:131900	KRT14	3861	HP:0001597	Abnormality of the nail
OMIM:131900	KRT14	3861	HP:0002164	Nail dysplasia
OMIM:131900	KRT14	3861	HP:0000006	Autosomal dominant inheritance
OMIM:131900	KRT14	3861	HP:0001933	Subcutaneous hemorrhage
OMIM:131900	KRT5	3852	HP:0002093	Respiratory insufficiency
OMIM:131900	KRT5	3852	HP:0000975	Hyperhidrosis
OMIM:131900	KRT5	3852	HP:0000508	Ptosis
OMIM:131900	KRT5	3852	HP:0000597	Ophthalmoparesis
OMIM:131900	KRT5	3852	HP:0000682	Abnormality of dental enamel
OMIM:131900	KRT5	3852	HP:0000982	Palmoplantar keratoderma
OMIM:131900	KRT5	3852	HP:0002793	Abnormal pattern of respiration
OMIM:131900	KRT5	3852	HP:0008404	Nail dystrophy
OMIM:131900	KRT5	3852	HP:0001597	Abnormality of the nail
OMIM:131900	KRT5	3852	HP:0002164	Nail dysplasia
OMIM:131900	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:131900	KRT5	3852	HP:0001933	Subcutaneous hemorrhage
OMIM:615630	IFT172	26160	HP:0001629	Ventricular septal defect
OMIM:615630	IFT172	26160	HP:0003026	Short long bone
OMIM:615630	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:615630	IFT172	26160	HP:0002240	Hepatomegaly
OMIM:615630	IFT172	26160	HP:0001591	Bell-shaped thorax
OMIM:615630	IFT172	26160	HP:0012622	Chronic kidney disease
OMIM:615630	IFT172	26160	HP:0000657	Oculomotor apraxia
OMIM:615630	IFT172	26160	HP:0001744	Splenomegaly
OMIM:615630	IFT172	26160	HP:0000546	Retinal degeneration
OMIM:615630	IFT172	26160	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615630	IFT172	26160	HP:0001399	Hepatic failure
OMIM:615630	IFT172	26160	HP:0002857	Genu valgum
OMIM:615630	IFT172	26160	HP:0000090	Nephronophthisis
OMIM:615630	IFT172	26160	HP:0005257	Thoracic hypoplasia
OMIM:615630	IFT172	26160	HP:0000833	Glucose intolerance
OMIM:615630	IFT172	26160	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:615630	IFT172	26160	HP:0000238	Hydrocephalus
OMIM:615630	IFT172	26160	HP:0001513	Obesity
OMIM:615630	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:615630	IFT172	26160	HP:0001249	Intellectual disability
OMIM:615630	IFT172	26160	HP:0000662	Nyctalopia
OMIM:615630	IFT172	26160	HP:0001162	Postaxial hand polydactyly
OMIM:615630	IFT172	26160	HP:0001395	Hepatic fibrosis
OMIM:615630	IFT172	26160	HP:0001396	Cholestasis
OMIM:615630	IFT172	26160	HP:0000773	Short ribs
OMIM:615630	IFT172	26160	HP:0000202	Oral cleft
OMIM:615630	IFT172	26160	HP:0004322	Short stature
OMIM:615630	TTC21B	79809	HP:0001629	Ventricular septal defect
OMIM:615630	TTC21B	79809	HP:0003026	Short long bone
OMIM:615630	TTC21B	79809	HP:0001156	Brachydactyly syndrome
OMIM:615630	TTC21B	79809	HP:0002240	Hepatomegaly
OMIM:615630	TTC21B	79809	HP:0001591	Bell-shaped thorax
OMIM:615630	TTC21B	79809	HP:0012622	Chronic kidney disease
OMIM:615630	TTC21B	79809	HP:0000657	Oculomotor apraxia
OMIM:615630	TTC21B	79809	HP:0001744	Splenomegaly
OMIM:615630	TTC21B	79809	HP:0000546	Retinal degeneration
OMIM:615630	TTC21B	79809	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615630	TTC21B	79809	HP:0001399	Hepatic failure
OMIM:615630	TTC21B	79809	HP:0002857	Genu valgum
OMIM:615630	TTC21B	79809	HP:0000090	Nephronophthisis
OMIM:615630	TTC21B	79809	HP:0005257	Thoracic hypoplasia
OMIM:615630	TTC21B	79809	HP:0000833	Glucose intolerance
OMIM:615630	TTC21B	79809	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:615630	TTC21B	79809	HP:0000238	Hydrocephalus
OMIM:615630	TTC21B	79809	HP:0001513	Obesity
OMIM:615630	TTC21B	79809	HP:0000007	Autosomal recessive inheritance
OMIM:615630	TTC21B	79809	HP:0001249	Intellectual disability
OMIM:615630	TTC21B	79809	HP:0000662	Nyctalopia
OMIM:615630	TTC21B	79809	HP:0001162	Postaxial hand polydactyly
OMIM:615630	TTC21B	79809	HP:0001395	Hepatic fibrosis
OMIM:615630	TTC21B	79809	HP:0001396	Cholestasis
OMIM:615630	TTC21B	79809	HP:0000773	Short ribs
OMIM:615630	TTC21B	79809	HP:0000202	Oral cleft
OMIM:615630	TTC21B	79809	HP:0004322	Short stature
OMIM:615630	WDR19	57728	HP:0001629	Ventricular septal defect
OMIM:615630	WDR19	57728	HP:0003026	Short long bone
OMIM:615630	WDR19	57728	HP:0001156	Brachydactyly syndrome
OMIM:615630	WDR19	57728	HP:0002240	Hepatomegaly
OMIM:615630	WDR19	57728	HP:0001591	Bell-shaped thorax
OMIM:615630	WDR19	57728	HP:0012622	Chronic kidney disease
OMIM:615630	WDR19	57728	HP:0000657	Oculomotor apraxia
OMIM:615630	WDR19	57728	HP:0001744	Splenomegaly
OMIM:615630	WDR19	57728	HP:0000546	Retinal degeneration
OMIM:615630	WDR19	57728	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615630	WDR19	57728	HP:0001399	Hepatic failure
OMIM:615630	WDR19	57728	HP:0002857	Genu valgum
OMIM:615630	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:615630	WDR19	57728	HP:0005257	Thoracic hypoplasia
OMIM:615630	WDR19	57728	HP:0000833	Glucose intolerance
OMIM:615630	WDR19	57728	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:615630	WDR19	57728	HP:0000238	Hydrocephalus
OMIM:615630	WDR19	57728	HP:0001513	Obesity
OMIM:615630	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:615630	WDR19	57728	HP:0001249	Intellectual disability
OMIM:615630	WDR19	57728	HP:0000662	Nyctalopia
OMIM:615630	WDR19	57728	HP:0001162	Postaxial hand polydactyly
OMIM:615630	WDR19	57728	HP:0001395	Hepatic fibrosis
OMIM:615630	WDR19	57728	HP:0001396	Cholestasis
OMIM:615630	WDR19	57728	HP:0000773	Short ribs
OMIM:615630	WDR19	57728	HP:0000202	Oral cleft
OMIM:615630	WDR19	57728	HP:0004322	Short stature
OMIM:615630	WDR34	89891	HP:0001629	Ventricular septal defect
OMIM:615630	WDR34	89891	HP:0003026	Short long bone
OMIM:615630	WDR34	89891	HP:0001156	Brachydactyly syndrome
OMIM:615630	WDR34	89891	HP:0002240	Hepatomegaly
OMIM:615630	WDR34	89891	HP:0001591	Bell-shaped thorax
OMIM:615630	WDR34	89891	HP:0012622	Chronic kidney disease
OMIM:615630	WDR34	89891	HP:0000657	Oculomotor apraxia
OMIM:615630	WDR34	89891	HP:0001744	Splenomegaly
OMIM:615630	WDR34	89891	HP:0000546	Retinal degeneration
OMIM:615630	WDR34	89891	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615630	WDR34	89891	HP:0001399	Hepatic failure
OMIM:615630	WDR34	89891	HP:0002857	Genu valgum
OMIM:615630	WDR34	89891	HP:0000090	Nephronophthisis
OMIM:615630	WDR34	89891	HP:0005257	Thoracic hypoplasia
OMIM:615630	WDR34	89891	HP:0000833	Glucose intolerance
OMIM:615630	WDR34	89891	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:615630	WDR34	89891	HP:0000238	Hydrocephalus
OMIM:615630	WDR34	89891	HP:0001513	Obesity
OMIM:615630	WDR34	89891	HP:0000007	Autosomal recessive inheritance
OMIM:615630	WDR34	89891	HP:0001249	Intellectual disability
OMIM:615630	WDR34	89891	HP:0000662	Nyctalopia
OMIM:615630	WDR34	89891	HP:0001162	Postaxial hand polydactyly
OMIM:615630	WDR34	89891	HP:0001395	Hepatic fibrosis
OMIM:615630	WDR34	89891	HP:0001396	Cholestasis
OMIM:615630	WDR34	89891	HP:0000773	Short ribs
OMIM:615630	WDR34	89891	HP:0000202	Oral cleft
OMIM:615630	WDR34	89891	HP:0004322	Short stature
OMIM:615630	IFT80	57560	HP:0001629	Ventricular septal defect
OMIM:615630	IFT80	57560	HP:0003026	Short long bone
OMIM:615630	IFT80	57560	HP:0001156	Brachydactyly syndrome
OMIM:615630	IFT80	57560	HP:0002240	Hepatomegaly
OMIM:615630	IFT80	57560	HP:0001591	Bell-shaped thorax
OMIM:615630	IFT80	57560	HP:0012622	Chronic kidney disease
OMIM:615630	IFT80	57560	HP:0000657	Oculomotor apraxia
OMIM:615630	IFT80	57560	HP:0001744	Splenomegaly
OMIM:615630	IFT80	57560	HP:0000546	Retinal degeneration
OMIM:615630	IFT80	57560	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615630	IFT80	57560	HP:0001399	Hepatic failure
OMIM:615630	IFT80	57560	HP:0002857	Genu valgum
OMIM:615630	IFT80	57560	HP:0000090	Nephronophthisis
OMIM:615630	IFT80	57560	HP:0005257	Thoracic hypoplasia
OMIM:615630	IFT80	57560	HP:0000833	Glucose intolerance
OMIM:615630	IFT80	57560	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:615630	IFT80	57560	HP:0000238	Hydrocephalus
OMIM:615630	IFT80	57560	HP:0001513	Obesity
OMIM:615630	IFT80	57560	HP:0000007	Autosomal recessive inheritance
OMIM:615630	IFT80	57560	HP:0001249	Intellectual disability
OMIM:615630	IFT80	57560	HP:0000662	Nyctalopia
OMIM:615630	IFT80	57560	HP:0001162	Postaxial hand polydactyly
OMIM:615630	IFT80	57560	HP:0001395	Hepatic fibrosis
OMIM:615630	IFT80	57560	HP:0001396	Cholestasis
OMIM:615630	IFT80	57560	HP:0000773	Short ribs
OMIM:615630	IFT80	57560	HP:0000202	Oral cleft
OMIM:615630	IFT80	57560	HP:0004322	Short stature
OMIM:615630	WDR60	55112	HP:0001629	Ventricular septal defect
OMIM:615630	WDR60	55112	HP:0003026	Short long bone
OMIM:615630	WDR60	55112	HP:0001156	Brachydactyly syndrome
OMIM:615630	WDR60	55112	HP:0002240	Hepatomegaly
OMIM:615630	WDR60	55112	HP:0001591	Bell-shaped thorax
OMIM:615630	WDR60	55112	HP:0012622	Chronic kidney disease
OMIM:615630	WDR60	55112	HP:0000657	Oculomotor apraxia
OMIM:615630	WDR60	55112	HP:0001744	Splenomegaly
OMIM:615630	WDR60	55112	HP:0000546	Retinal degeneration
OMIM:615630	WDR60	55112	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615630	WDR60	55112	HP:0001399	Hepatic failure
OMIM:615630	WDR60	55112	HP:0002857	Genu valgum
OMIM:615630	WDR60	55112	HP:0000090	Nephronophthisis
OMIM:615630	WDR60	55112	HP:0005257	Thoracic hypoplasia
OMIM:615630	WDR60	55112	HP:0000833	Glucose intolerance
OMIM:615630	WDR60	55112	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:615630	WDR60	55112	HP:0000238	Hydrocephalus
OMIM:615630	WDR60	55112	HP:0001513	Obesity
OMIM:615630	WDR60	55112	HP:0000007	Autosomal recessive inheritance
OMIM:615630	WDR60	55112	HP:0001249	Intellectual disability
OMIM:615630	WDR60	55112	HP:0000662	Nyctalopia
OMIM:615630	WDR60	55112	HP:0001162	Postaxial hand polydactyly
OMIM:615630	WDR60	55112	HP:0001395	Hepatic fibrosis
OMIM:615630	WDR60	55112	HP:0001396	Cholestasis
OMIM:615630	WDR60	55112	HP:0000773	Short ribs
OMIM:615630	WDR60	55112	HP:0000202	Oral cleft
OMIM:615630	WDR60	55112	HP:0004322	Short stature
OMIM:615630	DYNC2H1	79659	HP:0001629	Ventricular septal defect
OMIM:615630	DYNC2H1	79659	HP:0003026	Short long bone
OMIM:615630	DYNC2H1	79659	HP:0001156	Brachydactyly syndrome
OMIM:615630	DYNC2H1	79659	HP:0002240	Hepatomegaly
OMIM:615630	DYNC2H1	79659	HP:0001591	Bell-shaped thorax
OMIM:615630	DYNC2H1	79659	HP:0012622	Chronic kidney disease
OMIM:615630	DYNC2H1	79659	HP:0000657	Oculomotor apraxia
OMIM:615630	DYNC2H1	79659	HP:0001744	Splenomegaly
OMIM:615630	DYNC2H1	79659	HP:0000546	Retinal degeneration
OMIM:615630	DYNC2H1	79659	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615630	DYNC2H1	79659	HP:0001399	Hepatic failure
OMIM:615630	DYNC2H1	79659	HP:0002857	Genu valgum
OMIM:615630	DYNC2H1	79659	HP:0000090	Nephronophthisis
OMIM:615630	DYNC2H1	79659	HP:0005257	Thoracic hypoplasia
OMIM:615630	DYNC2H1	79659	HP:0000833	Glucose intolerance
OMIM:615630	DYNC2H1	79659	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:615630	DYNC2H1	79659	HP:0000238	Hydrocephalus
OMIM:615630	DYNC2H1	79659	HP:0001513	Obesity
OMIM:615630	DYNC2H1	79659	HP:0000007	Autosomal recessive inheritance
OMIM:615630	DYNC2H1	79659	HP:0001249	Intellectual disability
OMIM:615630	DYNC2H1	79659	HP:0000662	Nyctalopia
OMIM:615630	DYNC2H1	79659	HP:0001162	Postaxial hand polydactyly
OMIM:615630	DYNC2H1	79659	HP:0001395	Hepatic fibrosis
OMIM:615630	DYNC2H1	79659	HP:0001396	Cholestasis
OMIM:615630	DYNC2H1	79659	HP:0000773	Short ribs
OMIM:615630	DYNC2H1	79659	HP:0000202	Oral cleft
OMIM:615630	DYNC2H1	79659	HP:0004322	Short stature
OMIM:615630	CEP120	153241	HP:0001629	Ventricular septal defect
OMIM:615630	CEP120	153241	HP:0003026	Short long bone
OMIM:615630	CEP120	153241	HP:0001156	Brachydactyly syndrome
OMIM:615630	CEP120	153241	HP:0002240	Hepatomegaly
OMIM:615630	CEP120	153241	HP:0001591	Bell-shaped thorax
OMIM:615630	CEP120	153241	HP:0012622	Chronic kidney disease
OMIM:615630	CEP120	153241	HP:0000657	Oculomotor apraxia
OMIM:615630	CEP120	153241	HP:0001744	Splenomegaly
OMIM:615630	CEP120	153241	HP:0000546	Retinal degeneration
OMIM:615630	CEP120	153241	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615630	CEP120	153241	HP:0001399	Hepatic failure
OMIM:615630	CEP120	153241	HP:0002857	Genu valgum
OMIM:615630	CEP120	153241	HP:0000090	Nephronophthisis
OMIM:615630	CEP120	153241	HP:0005257	Thoracic hypoplasia
OMIM:615630	CEP120	153241	HP:0000833	Glucose intolerance
OMIM:615630	CEP120	153241	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:615630	CEP120	153241	HP:0000238	Hydrocephalus
OMIM:615630	CEP120	153241	HP:0001513	Obesity
OMIM:615630	CEP120	153241	HP:0000007	Autosomal recessive inheritance
OMIM:615630	CEP120	153241	HP:0001249	Intellectual disability
OMIM:615630	CEP120	153241	HP:0000662	Nyctalopia
OMIM:615630	CEP120	153241	HP:0001162	Postaxial hand polydactyly
OMIM:615630	CEP120	153241	HP:0001395	Hepatic fibrosis
OMIM:615630	CEP120	153241	HP:0001396	Cholestasis
OMIM:615630	CEP120	153241	HP:0000773	Short ribs
OMIM:615630	CEP120	153241	HP:0000202	Oral cleft
OMIM:615630	CEP120	153241	HP:0004322	Short stature
OMIM:615630	IFT140	9742	HP:0001629	Ventricular septal defect
OMIM:615630	IFT140	9742	HP:0003026	Short long bone
OMIM:615630	IFT140	9742	HP:0001156	Brachydactyly syndrome
OMIM:615630	IFT140	9742	HP:0002240	Hepatomegaly
OMIM:615630	IFT140	9742	HP:0001591	Bell-shaped thorax
OMIM:615630	IFT140	9742	HP:0012622	Chronic kidney disease
OMIM:615630	IFT140	9742	HP:0000657	Oculomotor apraxia
OMIM:615630	IFT140	9742	HP:0001744	Splenomegaly
OMIM:615630	IFT140	9742	HP:0000546	Retinal degeneration
OMIM:615630	IFT140	9742	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615630	IFT140	9742	HP:0001399	Hepatic failure
OMIM:615630	IFT140	9742	HP:0002857	Genu valgum
OMIM:615630	IFT140	9742	HP:0000090	Nephronophthisis
OMIM:615630	IFT140	9742	HP:0005257	Thoracic hypoplasia
OMIM:615630	IFT140	9742	HP:0000833	Glucose intolerance
OMIM:615630	IFT140	9742	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:615630	IFT140	9742	HP:0000238	Hydrocephalus
OMIM:615630	IFT140	9742	HP:0001513	Obesity
OMIM:615630	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:615630	IFT140	9742	HP:0001249	Intellectual disability
OMIM:615630	IFT140	9742	HP:0000662	Nyctalopia
OMIM:615630	IFT140	9742	HP:0001162	Postaxial hand polydactyly
OMIM:615630	IFT140	9742	HP:0001395	Hepatic fibrosis
OMIM:615630	IFT140	9742	HP:0001396	Cholestasis
OMIM:615630	IFT140	9742	HP:0000773	Short ribs
OMIM:615630	IFT140	9742	HP:0000202	Oral cleft
OMIM:615630	IFT140	9742	HP:0004322	Short stature
OMIM:600110	ELOVL4	6785	HP:0000007	Autosomal recessive inheritance
OMIM:600110	ELOVL4	6785	HP:0007663	Reduced visual acuity
OMIM:600110	ELOVL4	6785	HP:0000006	Autosomal dominant inheritance
OMIM:600110	ELOVL4	6785	HP:0000505	Visual impairment
OMIM:600110	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:600110	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:600110	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:600110	ABCA4	24	HP:0000505	Visual impairment
OMIM:600110	CNGB3	54714	HP:0000007	Autosomal recessive inheritance
OMIM:600110	CNGB3	54714	HP:0007663	Reduced visual acuity
OMIM:600110	CNGB3	54714	HP:0000006	Autosomal dominant inheritance
OMIM:600110	CNGB3	54714	HP:0000505	Visual impairment
OMIM:600110	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:600110	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:600110	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:600110	PROM1	8842	HP:0000505	Visual impairment
OMIM:604715	SLC6A2	6530	HP:0000006	Autosomal dominant inheritance
OMIM:605355	TNNT1	7138	HP:0002194	Delayed gross motor development
OMIM:605355	TNNT1	7138	HP:0003198	Myopathy
OMIM:605355	TNNT1	7138	HP:0002093	Respiratory insufficiency
OMIM:605355	TNNT1	7138	HP:0000007	Autosomal recessive inheritance
OMIM:605355	TNNT1	7138	HP:0000768	Pectus carinatum
OMIM:605355	TNNT1	7138	HP:0002063	Rigidity
OMIM:605355	TNNT1	7138	HP:0007126	Proximal amyotrophy
OMIM:605355	TNNT1	7138	HP:0003593	Infantile onset
OMIM:605355	TNNT1	7138	HP:0001547	Abnormality of the rib cage
OMIM:605355	TNNT1	7138	HP:0001337	Tremor
OMIM:605355	TNNT1	7138	HP:0003273	Hip contracture
OMIM:607688	GBA	2629	HP:0000006	Autosomal dominant inheritance
OMIM:607688	GBA	2629	HP:0002063	Rigidity
OMIM:607688	GBA	2629	HP:0002172	Postural instability
OMIM:607688	GBA	2629	HP:0002067	Bradykinesia
OMIM:607688	DNAJC13	23317	HP:0000006	Autosomal dominant inheritance
OMIM:607688	DNAJC13	23317	HP:0002063	Rigidity
OMIM:607688	DNAJC13	23317	HP:0002172	Postural instability
OMIM:607688	DNAJC13	23317	HP:0002067	Bradykinesia
OMIM:607688	VPS35	55737	HP:0000006	Autosomal dominant inheritance
OMIM:607688	VPS35	55737	HP:0002063	Rigidity
OMIM:607688	VPS35	55737	HP:0002172	Postural instability
OMIM:607688	VPS35	55737	HP:0002067	Bradykinesia
OMIM:607688	GIGYF2	26058	HP:0000006	Autosomal dominant inheritance
OMIM:607688	GIGYF2	26058	HP:0002063	Rigidity
OMIM:607688	GIGYF2	26058	HP:0002172	Postural instability
OMIM:607688	GIGYF2	26058	HP:0002067	Bradykinesia
OMIM:607688	LRRK2	120892	HP:0000006	Autosomal dominant inheritance
OMIM:607688	LRRK2	120892	HP:0002063	Rigidity
OMIM:607688	LRRK2	120892	HP:0002172	Postural instability
OMIM:607688	LRRK2	120892	HP:0002067	Bradykinesia
OMIM:607688	EIF4G1	1981	HP:0000006	Autosomal dominant inheritance
OMIM:607688	EIF4G1	1981	HP:0002063	Rigidity
OMIM:607688	EIF4G1	1981	HP:0002172	Postural instability
OMIM:607688	EIF4G1	1981	HP:0002067	Bradykinesia
OMIM:607688	SNCA	6622	HP:0000006	Autosomal dominant inheritance
OMIM:607688	SNCA	6622	HP:0002063	Rigidity
OMIM:607688	SNCA	6622	HP:0002172	Postural instability
OMIM:607688	SNCA	6622	HP:0002067	Bradykinesia
OMIM:612712	RLBP1	6017	HP:0000556	Retinal dystrophy
OMIM:612712	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:612712	SPATA7	55812	HP:0000556	Retinal dystrophy
OMIM:612712	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:612712	ARL6	84100	HP:0000556	Retinal dystrophy
OMIM:612712	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:612712	CERKL	375298	HP:0000556	Retinal dystrophy
OMIM:612712	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:612712	RPGRIP1	57096	HP:0000556	Retinal dystrophy
OMIM:612712	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:612712	LCA5	167691	HP:0000556	Retinal dystrophy
OMIM:612712	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PRPF31	26121	HP:0000556	Retinal dystrophy
OMIM:612712	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:612712	TTC8	123016	HP:0000556	Retinal dystrophy
OMIM:612712	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PROM1	8842	HP:0000556	Retinal dystrophy
OMIM:612712	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:612712	LRAT	9227	HP:0000556	Retinal dystrophy
OMIM:612712	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:612712	IFT140	9742	HP:0000556	Retinal dystrophy
OMIM:612712	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:612712	BEST1	7439	HP:0000556	Retinal dystrophy
OMIM:612712	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:612712	NEK2	4751	HP:0000556	Retinal dystrophy
OMIM:612712	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:612712	ARL2BP	23568	HP:0000556	Retinal dystrophy
OMIM:612712	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:612712	NR2E3	10002	HP:0000556	Retinal dystrophy
OMIM:612712	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:612712	EYS	346007	HP:0000556	Retinal dystrophy
OMIM:612712	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:612712	MAK	4117	HP:0000556	Retinal dystrophy
OMIM:612712	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:612712	SAG	6295	HP:0000556	Retinal dystrophy
OMIM:612712	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:612712	ABCA4	24	HP:0000556	Retinal dystrophy
OMIM:612712	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PDE6A	5145	HP:0000556	Retinal dystrophy
OMIM:612712	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PDE6G	5148	HP:0000556	Retinal dystrophy
OMIM:612712	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:612712	IMPDH1	3614	HP:0000556	Retinal dystrophy
OMIM:612712	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:612712	OFD1	8481	HP:0000556	Retinal dystrophy
OMIM:612712	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:612712	NMNAT1	64802	HP:0000556	Retinal dystrophy
OMIM:612712	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:612712	GUCA1B	2979	HP:0000556	Retinal dystrophy
OMIM:612712	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:612712	NRL	4901	HP:0000556	Retinal dystrophy
OMIM:612712	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PDE6B	5158	HP:0000556	Retinal dystrophy
OMIM:612712	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:612712	KLHL7	55975	HP:0000556	Retinal dystrophy
OMIM:612712	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PRPF4	9128	HP:0000556	Retinal dystrophy
OMIM:612712	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PRPF3	9129	HP:0000556	Retinal dystrophy
OMIM:612712	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:612712	FAM161A	84140	HP:0000556	Retinal dystrophy
OMIM:612712	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:612712	IFT172	26160	HP:0000556	Retinal dystrophy
OMIM:612712	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:612712	KIZ	55857	HP:0000556	Retinal dystrophy
OMIM:612712	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:612712	CDHR1	92211	HP:0000556	Retinal dystrophy
OMIM:612712	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:612712	ZNF408	79797	HP:0000556	Retinal dystrophy
OMIM:612712	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:612712	GUCY2D	3000	HP:0000556	Retinal dystrophy
OMIM:612712	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:612712	CEP290	80184	HP:0000556	Retinal dystrophy
OMIM:612712	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:612712	IQCB1	9657	HP:0000556	Retinal dystrophy
OMIM:612712	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:612712	KCNJ13	3769	HP:0000556	Retinal dystrophy
OMIM:612712	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:612712	GDF6	392255	HP:0000556	Retinal dystrophy
OMIM:612712	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:612712	RBP3	5949	HP:0000556	Retinal dystrophy
OMIM:612712	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:612712	HGSNAT	138050	HP:0000556	Retinal dystrophy
OMIM:612712	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:612712	AIPL1	23746	HP:0000556	Retinal dystrophy
OMIM:612712	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:612712	FSCN2	25794	HP:0000556	Retinal dystrophy
OMIM:612712	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PRCD	768206	HP:0000556	Retinal dystrophy
OMIM:612712	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:612712	BBS2	583	HP:0000556	Retinal dystrophy
OMIM:612712	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:612712	RDH12	145226	HP:0000556	Retinal dystrophy
OMIM:612712	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PRPH2	5961	HP:0000556	Retinal dystrophy
OMIM:612712	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:612712	DHDDS	79947	HP:0000556	Retinal dystrophy
OMIM:612712	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:612712	ROM1	6094	HP:0000556	Retinal dystrophy
OMIM:612712	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:612712	C2ORF71	388939	HP:0000556	Retinal dystrophy
OMIM:612712	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:612712	RP9	6100	HP:0000556	Retinal dystrophy
OMIM:612712	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PRPF6	24148	HP:0000556	Retinal dystrophy
OMIM:612712	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:612712	RP1	6101	HP:0000556	Retinal dystrophy
OMIM:612712	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:612712	RP2	6102	HP:0000556	Retinal dystrophy
OMIM:612712	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:612712	RPGR	6103	HP:0000556	Retinal dystrophy
OMIM:612712	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:612712	SEMA4A	64218	HP:0000556	Retinal dystrophy
OMIM:612712	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:612712	C8ORF37	157657	HP:0000556	Retinal dystrophy
OMIM:612712	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:612712	IDH3B	3420	HP:0000556	Retinal dystrophy
OMIM:612712	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:612712	MERTK	10461	HP:0000556	Retinal dystrophy
OMIM:612712	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PRPF8	10594	HP:0000556	Retinal dystrophy
OMIM:612712	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:612712	TOPORS	10210	HP:0000556	Retinal dystrophy
OMIM:612712	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:612712	USH2A	7399	HP:0000556	Retinal dystrophy
OMIM:612712	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:612712	RPE65	6121	HP:0000556	Retinal dystrophy
OMIM:612712	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:612712	CLRN1	7401	HP:0000556	Retinal dystrophy
OMIM:612712	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:612712	CNGB1	1258	HP:0000556	Retinal dystrophy
OMIM:612712	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:612712	RGR	5995	HP:0000556	Retinal dystrophy
OMIM:612712	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:612712	CNGA1	1259	HP:0000556	Retinal dystrophy
OMIM:612712	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:612712	TUB	7275	HP:0000556	Retinal dystrophy
OMIM:612712	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:612712	SNRNP200	23020	HP:0000556	Retinal dystrophy
OMIM:612712	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:612712	SLC7A14	57709	HP:0000556	Retinal dystrophy
OMIM:612712	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:612712	TULP1	7287	HP:0000556	Retinal dystrophy
OMIM:612712	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:612712	CRB1	23418	HP:0000556	Retinal dystrophy
OMIM:612712	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:612712	RHO	6010	HP:0000556	Retinal dystrophy
OMIM:612712	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:612712	CA4	762	HP:0000556	Retinal dystrophy
OMIM:612712	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:612712	IMPG2	50939	HP:0000556	Retinal dystrophy
OMIM:612712	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:612712	ZNF513	130557	HP:0000556	Retinal dystrophy
OMIM:612712	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:612712	RD3	343035	HP:0000556	Retinal dystrophy
OMIM:612712	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:612712	CRX	1406	HP:0000556	Retinal dystrophy
OMIM:612712	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:184100	TRAPPC2	6399	HP:0000768	Pectus carinatum
OMIM:184100	TRAPPC2	6399	HP:0003311	Hypoplasia of the odontoid process
OMIM:184100	TRAPPC2	6399	HP:0000470	Short neck
OMIM:184100	TRAPPC2	6399	HP:0000926	Platyspondyly
OMIM:184100	TRAPPC2	6399	HP:0001552	Barrel-shaped chest
OMIM:184100	TRAPPC2	6399	HP:0000006	Autosomal dominant inheritance
OMIM:184100	TRAPPC2	6399	HP:0002938	Lumbar hyperlordosis
OMIM:184100	TRAPPC2	6399	HP:0001369	Arthritis
OMIM:184100	TRAPPC2	6399	HP:0002751	Kyphoscoliosis
OMIM:184100	TRAPPC2	6399	HP:0003301	Irregular vertebral endplates
OMIM:184100	TRAPPC2	6399	HP:0000272	Malar flattening
OMIM:166350	GNAS	2778	HP:0100246	Osteoma
OMIM:166350	GNAS	2778	HP:0002758	Osteoarthritis
OMIM:166350	GNAS	2778	HP:0010766	Ectopic calcification
OMIM:166350	GNAS	2778	HP:0000951	Abnormality of the skin
OMIM:166350	GNAS	2778	HP:0003593	Infantile onset
OMIM:166350	GNAS	2778	HP:0100242	Sarcoma
OMIM:166350	GNAS	2778	HP:0001376	Limitation of joint mobility
OMIM:166350	GNAS	2778	HP:0003676	Progressive
OMIM:166350	GNAS	2778	HP:0001156	Brachydactyly syndrome
OMIM:166350	GNAS	2778	HP:0001034	Hypermelanotic macule
OMIM:166350	GNAS	2778	HP:0000828	Abnormality of the parathyroid gland
OMIM:166350	GNAS	2778	HP:0003011	Abnormality of the musculature
OMIM:166350	GNAS	2778	HP:0001510	Growth delay
OMIM:166350	GNAS	2778	HP:0003621	Juvenile onset
OMIM:166350	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:166350	GNAS	2778	HP:0003828	Variable expressivity
OMIM:166350	GNAS	2778	HP:0002653	Bone pain
OMIM:610048	DCN	1634	HP:0000486	Strabismus
OMIM:610048	DCN	1634	HP:0000501	Glaucoma
OMIM:610048	DCN	1634	HP:0000529	Progressive visual loss
OMIM:610048	DCN	1634	HP:0000006	Autosomal dominant inheritance
OMIM:135100	ACVR1	90	HP:0010034	Short 1st metacarpal
OMIM:135100	ACVR1	90	HP:0000687	Widely spaced teeth
OMIM:135100	ACVR1	90	HP:0001822	Hallux valgus
OMIM:135100	ACVR1	90	HP:0000405	Conductive hearing impairment
OMIM:135100	ACVR1	90	HP:0100543	Cognitive impairment
OMIM:135100	ACVR1	90	HP:0002878	Respiratory failure
OMIM:135100	ACVR1	90	HP:0000407	Sensorineural hearing impairment
OMIM:135100	ACVR1	90	HP:0000501	Glaucoma
OMIM:135100	ACVR1	90	HP:0002093	Respiratory insufficiency
OMIM:135100	ACVR1	90	HP:0003016	Metaphyseal widening
OMIM:135100	ACVR1	90	HP:0001249	Intellectual disability
OMIM:135100	ACVR1	90	HP:0010766	Ectopic calcification
OMIM:135100	ACVR1	90	HP:0010109	Short hallux
OMIM:135100	ACVR1	90	HP:0004209	Clinodactyly of the 5th finger
OMIM:135100	ACVR1	90	HP:0001376	Limitation of joint mobility
OMIM:135100	ACVR1	90	HP:0003306	Spinal rigidity
OMIM:135100	ACVR1	90	HP:0001903	Anemia
OMIM:135100	ACVR1	90	HP:0001596	Alopecia
OMIM:135100	ACVR1	90	HP:0001250	Seizures
OMIM:135100	ACVR1	90	HP:0000006	Autosomal dominant inheritance
OMIM:135100	ACVR1	90	HP:0000951	Abnormality of the skin
OMIM:135100	ACVR1	90	HP:0002650	Scoliosis
OMIM:614507	DDOST	1650	HP:0001410	Decreased liver function
OMIM:614507	DDOST	1650	HP:0003593	Infantile onset
OMIM:614507	DDOST	1650	HP:0000007	Autosomal recessive inheritance
OMIM:614507	DDOST	1650	HP:0001252	Muscular hypotonia
OMIM:614507	DDOST	1650	HP:0002020	Gastroesophageal reflux
OMIM:614507	DDOST	1650	HP:0001263	Global developmental delay
OMIM:614507	DDOST	1650	HP:0002019	Constipation
OMIM:614507	DDOST	1650	HP:0000486	Strabismus
OMIM:614507	DDOST	1650	HP:0001508	Failure to thrive
OMIM:142946	TGIF1	7050	HP:0000601	Hypotelorism
OMIM:142946	TGIF1	7050	HP:0008501	Median cleft lip and palate
OMIM:142946	TGIF1	7050	HP:0000006	Autosomal dominant inheritance
OMIM:142946	TGIF1	7050	HP:0000508	Ptosis
OMIM:142946	TGIF1	7050	HP:0000161	Median cleft lip
OMIM:142946	TGIF1	7050	HP:0005273	Absent nasal septal cartilage
OMIM:142946	TGIF1	7050	HP:0005280	Depressed nasal bridge
OMIM:256520	PSAT1	29968	HP:0000340	Sloping forehead
OMIM:256520	PSAT1	29968	HP:0002089	Pulmonary hypoplasia
OMIM:256520	PSAT1	29968	HP:0009466	Radial deviation of finger
OMIM:256520	PSAT1	29968	HP:0009473	Joint contracture of the hand
OMIM:256520	PSAT1	29968	HP:0001655	Patent foramen ovale
OMIM:256520	PSAT1	29968	HP:0001838	Rocker bottom foot
OMIM:256520	PSAT1	29968	HP:0002414	Spina bifida
OMIM:256520	PSAT1	29968	HP:0000175	Cleft palate
OMIM:256520	PSAT1	29968	HP:0001770	Toe syndactyly
OMIM:256520	PSAT1	29968	HP:0001339	Lissencephaly
OMIM:256520	PSAT1	29968	HP:0012385	Camptodactyly
OMIM:256520	PSAT1	29968	HP:0001321	Cerebellar hypoplasia
OMIM:256520	PSAT1	29968	HP:0003826	Stillbirth
OMIM:256520	PSAT1	29968	HP:0006101	Finger syndactyly
OMIM:256520	PSAT1	29968	HP:0000252	Microcephaly
OMIM:256520	PSAT1	29968	HP:0001274	Agenesis of corpus callosum
OMIM:256520	PSAT1	29968	HP:0001561	Polyhydramnios
OMIM:256520	PSAT1	29968	HP:0000028	Cryptorchidism
OMIM:256520	PSAT1	29968	HP:0000204	Cleft upper lip
OMIM:256520	PSAT1	29968	HP:0000316	Hypertelorism
OMIM:256520	PSAT1	29968	HP:0001629	Ventricular septal defect
OMIM:256520	PSAT1	29968	HP:0001669	Transposition of the great arteries
OMIM:256520	PSAT1	29968	HP:0000179	Thick lower lip vermilion
OMIM:256520	PSAT1	29968	HP:0000470	Short neck
OMIM:256520	PSAT1	29968	HP:0000520	Proptosis
OMIM:256520	PSAT1	29968	HP:0002983	Micromelia
OMIM:256520	PSAT1	29968	HP:0000007	Autosomal recessive inheritance
OMIM:256520	PSAT1	29968	HP:0000518	Cataract
OMIM:256520	PSAT1	29968	HP:0000104	Renal agenesis
OMIM:256520	PSAT1	29968	HP:0000568	Microphthalmia
OMIM:256520	PSAT1	29968	HP:0001558	Decreased fetal movement
OMIM:256520	PSAT1	29968	HP:0030084	Clinodactyly
OMIM:256520	PSAT1	29968	HP:0001305	Dandy-Walker malformation
OMIM:256520	PSAT1	29968	HP:0001511	Intrauterine growth retardation
OMIM:256520	PSAT1	29968	HP:0000400	Macrotia
OMIM:256520	PSAT1	29968	HP:0000347	Micrognathia
OMIM:256520	PSAT1	29968	HP:0002324	Hydranencephaly
OMIM:256520	PSAT1	29968	HP:0001643	Patent ductus arteriosus
OMIM:256520	PHGDH	26227	HP:0000340	Sloping forehead
OMIM:256520	PHGDH	26227	HP:0002089	Pulmonary hypoplasia
OMIM:256520	PHGDH	26227	HP:0009466	Radial deviation of finger
OMIM:256520	PHGDH	26227	HP:0009473	Joint contracture of the hand
OMIM:256520	PHGDH	26227	HP:0001655	Patent foramen ovale
OMIM:256520	PHGDH	26227	HP:0001838	Rocker bottom foot
OMIM:256520	PHGDH	26227	HP:0002414	Spina bifida
OMIM:256520	PHGDH	26227	HP:0000175	Cleft palate
OMIM:256520	PHGDH	26227	HP:0001770	Toe syndactyly
OMIM:256520	PHGDH	26227	HP:0001339	Lissencephaly
OMIM:256520	PHGDH	26227	HP:0012385	Camptodactyly
OMIM:256520	PHGDH	26227	HP:0001321	Cerebellar hypoplasia
OMIM:256520	PHGDH	26227	HP:0003826	Stillbirth
OMIM:256520	PHGDH	26227	HP:0006101	Finger syndactyly
OMIM:256520	PHGDH	26227	HP:0000252	Microcephaly
OMIM:256520	PHGDH	26227	HP:0001274	Agenesis of corpus callosum
OMIM:256520	PHGDH	26227	HP:0001561	Polyhydramnios
OMIM:256520	PHGDH	26227	HP:0000028	Cryptorchidism
OMIM:256520	PHGDH	26227	HP:0000204	Cleft upper lip
OMIM:256520	PHGDH	26227	HP:0000316	Hypertelorism
OMIM:256520	PHGDH	26227	HP:0001629	Ventricular septal defect
OMIM:256520	PHGDH	26227	HP:0001669	Transposition of the great arteries
OMIM:256520	PHGDH	26227	HP:0000179	Thick lower lip vermilion
OMIM:256520	PHGDH	26227	HP:0000470	Short neck
OMIM:256520	PHGDH	26227	HP:0000520	Proptosis
OMIM:256520	PHGDH	26227	HP:0002983	Micromelia
OMIM:256520	PHGDH	26227	HP:0000007	Autosomal recessive inheritance
OMIM:256520	PHGDH	26227	HP:0000518	Cataract
OMIM:256520	PHGDH	26227	HP:0000104	Renal agenesis
OMIM:256520	PHGDH	26227	HP:0000568	Microphthalmia
OMIM:256520	PHGDH	26227	HP:0001558	Decreased fetal movement
OMIM:256520	PHGDH	26227	HP:0030084	Clinodactyly
OMIM:256520	PHGDH	26227	HP:0001305	Dandy-Walker malformation
OMIM:256520	PHGDH	26227	HP:0001511	Intrauterine growth retardation
OMIM:256520	PHGDH	26227	HP:0000400	Macrotia
OMIM:256520	PHGDH	26227	HP:0000347	Micrognathia
OMIM:256520	PHGDH	26227	HP:0002324	Hydranencephaly
OMIM:256520	PHGDH	26227	HP:0001643	Patent ductus arteriosus
OMIM:314400	FLNA	2316	HP:0001634	Mitral valve prolapse
OMIM:314400	FLNA	2316	HP:0001659	Aortic regurgitation
OMIM:314400	FLNA	2316	HP:0001653	Mitral regurgitation
OMIM:314400	FLNA	2316	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:314400	FLNA	2316	HP:0001419	X-linked recessive inheritance
OMIM:314400	FLNA	2316	HP:0005180	Tricuspid regurgitation
OMIM:314400	FLNA	2316	HP:0001635	Congestive heart failure
OMIM:615685	ARL6IP1	23204	HP:0002540	Inability to walk
OMIM:615685	ARL6IP1	23204	HP:0002355	Difficulty walking
OMIM:615685	ARL6IP1	23204	HP:0000763	Sensory neuropathy
OMIM:615685	ARL6IP1	23204	HP:0001258	Spastic paraplegia
OMIM:212350	SLC25A4	291	HP:0000486	Strabismus
OMIM:212350	SLC25A4	291	HP:0000519	Congenital cataract
OMIM:212350	SLC25A4	291	HP:0002093	Respiratory insufficiency
OMIM:212350	SLC25A4	291	HP:0000501	Glaucoma
OMIM:212350	SLC25A4	291	HP:0001252	Muscular hypotonia
OMIM:212350	SLC25A4	291	HP:0000639	Nystagmus
OMIM:212350	SLC25A4	291	HP:0003593	Infantile onset
OMIM:212350	SLC25A4	291	HP:0000007	Autosomal recessive inheritance
OMIM:212350	SLC25A4	291	HP:0003198	Myopathy
OMIM:212350	SLC25A4	291	HP:0001270	Motor delay
OMIM:212350	SLC25A4	291	HP:0003828	Variable expressivity
OMIM:212350	SLC25A4	291	HP:0001510	Growth delay
OMIM:212350	SLC25A4	291	HP:0001324	Muscle weakness
OMIM:212350	SLC25A4	291	HP:0002151	Increased serum lactate
OMIM:212350	SLC25A4	291	HP:0000545	Myopia
OMIM:212350	SLC25A4	291	HP:0001873	Thrombocytopenia
OMIM:212350	SLC25A4	291	HP:0001639	Hypertrophic cardiomyopathy
OMIM:212350	SLC25A4	291	HP:0003546	Exercise intolerance
OMIM:212350	AGK	55750	HP:0000486	Strabismus
OMIM:212350	AGK	55750	HP:0000519	Congenital cataract
OMIM:212350	AGK	55750	HP:0002093	Respiratory insufficiency
OMIM:212350	AGK	55750	HP:0000501	Glaucoma
OMIM:212350	AGK	55750	HP:0001252	Muscular hypotonia
OMIM:212350	AGK	55750	HP:0000639	Nystagmus
OMIM:212350	AGK	55750	HP:0003593	Infantile onset
OMIM:212350	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:212350	AGK	55750	HP:0003198	Myopathy
OMIM:212350	AGK	55750	HP:0001270	Motor delay
OMIM:212350	AGK	55750	HP:0003828	Variable expressivity
OMIM:212350	AGK	55750	HP:0001510	Growth delay
OMIM:212350	AGK	55750	HP:0001324	Muscle weakness
OMIM:212350	AGK	55750	HP:0002151	Increased serum lactate
OMIM:212350	AGK	55750	HP:0000545	Myopia
OMIM:212350	AGK	55750	HP:0001873	Thrombocytopenia
OMIM:212350	AGK	55750	HP:0001639	Hypertrophic cardiomyopathy
OMIM:212350	AGK	55750	HP:0003546	Exercise intolerance
OMIM:616279	CRYAA	1409	HP:0000523	Subcapsular cataract
OMIM:616279	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:616279	CRYBA2	1412	HP:0000523	Subcapsular cataract
OMIM:616279	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:616279	CRYBB1	1414	HP:0000523	Subcapsular cataract
OMIM:616279	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:616279	AGK	55750	HP:0000523	Subcapsular cataract
OMIM:616279	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:616279	CRYBB2	1415	HP:0000523	Subcapsular cataract
OMIM:616279	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:616279	CRYBB3	1417	HP:0000523	Subcapsular cataract
OMIM:616279	CRYBB3	1417	HP:0000006	Autosomal dominant inheritance
OMIM:616279	WFS1	7466	HP:0000523	Subcapsular cataract
OMIM:616279	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:616279	NHS	4810	HP:0000523	Subcapsular cataract
OMIM:616279	NHS	4810	HP:0000006	Autosomal dominant inheritance
OMIM:616279	UNC45B	146862	HP:0000523	Subcapsular cataract
OMIM:616279	UNC45B	146862	HP:0000006	Autosomal dominant inheritance
OMIM:616279	GJA3	2700	HP:0000523	Subcapsular cataract
OMIM:616279	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:616279	CRYGD	1421	HP:0000523	Subcapsular cataract
OMIM:616279	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:616279	FYCO1	79443	HP:0000523	Subcapsular cataract
OMIM:616279	FYCO1	79443	HP:0000006	Autosomal dominant inheritance
OMIM:616279	BFSP1	631	HP:0000523	Subcapsular cataract
OMIM:616279	BFSP1	631	HP:0000006	Autosomal dominant inheritance
OMIM:616279	GCNT2	2651	HP:0000523	Subcapsular cataract
OMIM:616279	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:616279	MIP	4284	HP:0000523	Subcapsular cataract
OMIM:616279	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:535000	COX1	4512	HP:0003829	Incomplete penetrance
OMIM:535000	COX1	4512	HP:0001138	Optic neuropathy
OMIM:535000	COX1	4512	HP:0001425	Heterogeneous
OMIM:535000	COX1	4512	HP:0000572	Visual loss
OMIM:535000	COX1	4512	HP:0000648	Optic atrophy
OMIM:535000	COX1	4512	HP:0003198	Myopathy
OMIM:535000	COX1	4512	HP:0001332	Dystonia
OMIM:535000	COX1	4512	HP:0001251	Ataxia
OMIM:535000	COX1	4512	HP:0001427	Mitochondrial inheritance
OMIM:535000	COX1	4512	HP:0001271	Polyneuropathy
OMIM:535000	COX1	4512	HP:0011675	Arrhythmia
OMIM:535000	COX3	4514	HP:0003829	Incomplete penetrance
OMIM:535000	COX3	4514	HP:0001138	Optic neuropathy
OMIM:535000	COX3	4514	HP:0001425	Heterogeneous
OMIM:535000	COX3	4514	HP:0000572	Visual loss
OMIM:535000	COX3	4514	HP:0000648	Optic atrophy
OMIM:535000	COX3	4514	HP:0003198	Myopathy
OMIM:535000	COX3	4514	HP:0001332	Dystonia
OMIM:535000	COX3	4514	HP:0001251	Ataxia
OMIM:535000	COX3	4514	HP:0001427	Mitochondrial inheritance
OMIM:535000	COX3	4514	HP:0001271	Polyneuropathy
OMIM:535000	COX3	4514	HP:0011675	Arrhythmia
OMIM:535000	CYTB	4519	HP:0003829	Incomplete penetrance
OMIM:535000	CYTB	4519	HP:0001138	Optic neuropathy
OMIM:535000	CYTB	4519	HP:0001425	Heterogeneous
OMIM:535000	CYTB	4519	HP:0000572	Visual loss
OMIM:535000	CYTB	4519	HP:0000648	Optic atrophy
OMIM:535000	CYTB	4519	HP:0003198	Myopathy
OMIM:535000	CYTB	4519	HP:0001332	Dystonia
OMIM:535000	CYTB	4519	HP:0001251	Ataxia
OMIM:535000	CYTB	4519	HP:0001427	Mitochondrial inheritance
OMIM:535000	CYTB	4519	HP:0001271	Polyneuropathy
OMIM:535000	CYTB	4519	HP:0011675	Arrhythmia
OMIM:535000	ND1	4535	HP:0003829	Incomplete penetrance
OMIM:535000	ND1	4535	HP:0001138	Optic neuropathy
OMIM:535000	ND1	4535	HP:0001425	Heterogeneous
OMIM:535000	ND1	4535	HP:0000572	Visual loss
OMIM:535000	ND1	4535	HP:0000648	Optic atrophy
OMIM:535000	ND1	4535	HP:0003198	Myopathy
OMIM:535000	ND1	4535	HP:0001332	Dystonia
OMIM:535000	ND1	4535	HP:0001251	Ataxia
OMIM:535000	ND1	4535	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND1	4535	HP:0001271	Polyneuropathy
OMIM:535000	ND1	4535	HP:0011675	Arrhythmia
OMIM:535000	ND2	4536	HP:0003829	Incomplete penetrance
OMIM:535000	ND2	4536	HP:0001138	Optic neuropathy
OMIM:535000	ND2	4536	HP:0001425	Heterogeneous
OMIM:535000	ND2	4536	HP:0000572	Visual loss
OMIM:535000	ND2	4536	HP:0000648	Optic atrophy
OMIM:535000	ND2	4536	HP:0003198	Myopathy
OMIM:535000	ND2	4536	HP:0001332	Dystonia
OMIM:535000	ND2	4536	HP:0001251	Ataxia
OMIM:535000	ND2	4536	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND2	4536	HP:0001271	Polyneuropathy
OMIM:535000	ND2	4536	HP:0011675	Arrhythmia
OMIM:535000	ND4	4538	HP:0003829	Incomplete penetrance
OMIM:535000	ND4	4538	HP:0001138	Optic neuropathy
OMIM:535000	ND4	4538	HP:0001425	Heterogeneous
OMIM:535000	ND4	4538	HP:0000572	Visual loss
OMIM:535000	ND4	4538	HP:0000648	Optic atrophy
OMIM:535000	ND4	4538	HP:0003198	Myopathy
OMIM:535000	ND4	4538	HP:0001332	Dystonia
OMIM:535000	ND4	4538	HP:0001251	Ataxia
OMIM:535000	ND4	4538	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND4	4538	HP:0001271	Polyneuropathy
OMIM:535000	ND4	4538	HP:0011675	Arrhythmia
OMIM:535000	ND4L	4539	HP:0003829	Incomplete penetrance
OMIM:535000	ND4L	4539	HP:0001138	Optic neuropathy
OMIM:535000	ND4L	4539	HP:0001425	Heterogeneous
OMIM:535000	ND4L	4539	HP:0000572	Visual loss
OMIM:535000	ND4L	4539	HP:0000648	Optic atrophy
OMIM:535000	ND4L	4539	HP:0003198	Myopathy
OMIM:535000	ND4L	4539	HP:0001332	Dystonia
OMIM:535000	ND4L	4539	HP:0001251	Ataxia
OMIM:535000	ND4L	4539	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND4L	4539	HP:0001271	Polyneuropathy
OMIM:535000	ND4L	4539	HP:0011675	Arrhythmia
OMIM:535000	ATP6	4508	HP:0003829	Incomplete penetrance
OMIM:535000	ATP6	4508	HP:0001138	Optic neuropathy
OMIM:535000	ATP6	4508	HP:0001425	Heterogeneous
OMIM:535000	ATP6	4508	HP:0000572	Visual loss
OMIM:535000	ATP6	4508	HP:0000648	Optic atrophy
OMIM:535000	ATP6	4508	HP:0003198	Myopathy
OMIM:535000	ATP6	4508	HP:0001332	Dystonia
OMIM:535000	ATP6	4508	HP:0001251	Ataxia
OMIM:535000	ATP6	4508	HP:0001427	Mitochondrial inheritance
OMIM:535000	ATP6	4508	HP:0001271	Polyneuropathy
OMIM:535000	ATP6	4508	HP:0011675	Arrhythmia
OMIM:535000	ND5	4540	HP:0003829	Incomplete penetrance
OMIM:535000	ND5	4540	HP:0001138	Optic neuropathy
OMIM:535000	ND5	4540	HP:0001425	Heterogeneous
OMIM:535000	ND5	4540	HP:0000572	Visual loss
OMIM:535000	ND5	4540	HP:0000648	Optic atrophy
OMIM:535000	ND5	4540	HP:0003198	Myopathy
OMIM:535000	ND5	4540	HP:0001332	Dystonia
OMIM:535000	ND5	4540	HP:0001251	Ataxia
OMIM:535000	ND5	4540	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND5	4540	HP:0001271	Polyneuropathy
OMIM:535000	ND5	4540	HP:0011675	Arrhythmia
OMIM:535000	ND6	4541	HP:0003829	Incomplete penetrance
OMIM:535000	ND6	4541	HP:0001138	Optic neuropathy
OMIM:535000	ND6	4541	HP:0001425	Heterogeneous
OMIM:535000	ND6	4541	HP:0000572	Visual loss
OMIM:535000	ND6	4541	HP:0000648	Optic atrophy
OMIM:535000	ND6	4541	HP:0003198	Myopathy
OMIM:535000	ND6	4541	HP:0001332	Dystonia
OMIM:535000	ND6	4541	HP:0001251	Ataxia
OMIM:535000	ND6	4541	HP:0001427	Mitochondrial inheritance
OMIM:535000	ND6	4541	HP:0001271	Polyneuropathy
OMIM:535000	ND6	4541	HP:0011675	Arrhythmia
ORPHANET:89842	COL7A1	1294	HP:0002575	Tracheoesophageal fistula
ORPHANET:89842	COL7A1	1294	HP:0000078	Abnormality of the genital system
ORPHANET:89842	COL7A1	1294	HP:0001596	Alopecia
ORPHANET:89842	COL7A1	1294	HP:0008388	Abnormality of the toenails
ORPHANET:89842	COL7A1	1294	HP:0008872	Feeding difficulties in infancy
ORPHANET:89842	COL7A1	1294	HP:0002019	Constipation
ORPHANET:89842	COL7A1	1294	HP:0006101	Finger syndactyly
ORPHANET:89842	COL7A1	1294	HP:0000505	Visual impairment
ORPHANET:89842	COL7A1	1294	HP:0001903	Anemia
ORPHANET:89842	COL7A1	1294	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:89842	COL7A1	1294	HP:0001770	Toe syndactyly
ORPHANET:89842	COL7A1	1294	HP:0000160	Narrow mouth
ORPHANET:89842	COL7A1	1294	HP:0004349	Reduced bone mineral density
ORPHANET:89842	COL7A1	1294	HP:0008050	Abnormality of the palpebral fissures
ORPHANET:89842	COL7A1	1294	HP:0000987	Atypical scarring of skin
ORPHANET:89842	COL7A1	1294	HP:0008069	Neoplasm of the skin
ORPHANET:89842	COL7A1	1294	HP:0010296	Ankyloglossia
ORPHANET:89842	COL7A1	1294	HP:0000670	Carious teeth
ORPHANET:89842	COL7A1	1294	HP:0001231	Abnormality of the fingernails
OMIM:615616	CTNNA3	29119	HP:0004756	Ventricular tachycardia
OMIM:615616	CTNNA3	29119	HP:0000006	Autosomal dominant inheritance
OMIM:615616	CTNNA3	29119	HP:0011710	Bundle branch block
OMIM:615760	QARS	5859	HP:0000369	Low-set ears
OMIM:615760	QARS	5859	HP:0009879	Cortical gyral simplification
OMIM:615760	QARS	5859	HP:0002133	Status epilepticus
OMIM:615760	QARS	5859	HP:0002059	Cerebral atrophy
OMIM:615760	QARS	5859	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615760	QARS	5859	HP:0000340	Sloping forehead
OMIM:615760	QARS	5859	HP:0000358	Posteriorly rotated ears
OMIM:615760	QARS	5859	HP:0000286	Epicanthus
OMIM:615760	QARS	5859	HP:0003429	CNS hypomyelination
OMIM:615760	QARS	5859	HP:0000253	Progressive microcephaly
OMIM:615760	QARS	5859	HP:0001263	Global developmental delay
OMIM:615760	QARS	5859	HP:0001347	Hyperreflexia
OMIM:615760	QARS	5859	HP:0002119	Ventriculomegaly
OMIM:615760	QARS	5859	HP:0001252	Muscular hypotonia
OMIM:615760	QARS	5859	HP:0000601	Hypotelorism
OMIM:615760	QARS	5859	HP:0000341	Narrow forehead
OMIM:615024	ALOXE3	59344	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615024	ALOXE3	59344	HP:0000982	Palmoplantar keratoderma
OMIM:615024	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:615024	ALOX12B	242	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615024	ALOX12B	242	HP:0000982	Palmoplantar keratoderma
OMIM:615024	ALOX12B	242	HP:0000007	Autosomal recessive inheritance
OMIM:615024	CERS3	204219	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615024	CERS3	204219	HP:0000982	Palmoplantar keratoderma
OMIM:615024	CERS3	204219	HP:0000007	Autosomal recessive inheritance
OMIM:615024	ABCA12	26154	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615024	ABCA12	26154	HP:0000982	Palmoplantar keratoderma
OMIM:615024	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:615024	TGM1	7051	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615024	TGM1	7051	HP:0000982	Palmoplantar keratoderma
OMIM:615024	TGM1	7051	HP:0000007	Autosomal recessive inheritance
OMIM:615024	PNPLA1	285848	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615024	PNPLA1	285848	HP:0000982	Palmoplantar keratoderma
OMIM:615024	PNPLA1	285848	HP:0000007	Autosomal recessive inheritance
OMIM:615024	NIPAL4	348938	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615024	NIPAL4	348938	HP:0000982	Palmoplantar keratoderma
OMIM:615024	NIPAL4	348938	HP:0000007	Autosomal recessive inheritance
OMIM:609162	COL2A1	1280	HP:0010049	Short metacarpal
OMIM:609162	COL2A1	1280	HP:0010743	Short metatarsal
OMIM:609162	COL2A1	1280	HP:0002515	Waddling gait
OMIM:609162	COL2A1	1280	HP:0001831	Short toe
OMIM:609162	COL2A1	1280	HP:0003301	Irregular vertebral endplates
OMIM:609162	COL2A1	1280	HP:0002812	Coxa vara
OMIM:609162	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:609162	COL2A1	1280	HP:0002829	Arthralgia
OMIM:609162	COL2A1	1280	HP:0001507	Growth abnormality
OMIM:609162	COL2A1	1280	HP:0002650	Scoliosis
OMIM:609162	COL2A1	1280	HP:0001371	Flexion contracture
OMIM:609162	COL2A1	1280	HP:0100864	Short femoral neck
OMIM:609162	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:108721	FLNB	2317	HP:0003042	Elbow dislocation
OMIM:108721	FLNB	2317	HP:0002007	Frontal bossing
OMIM:108721	FLNB	2317	HP:0000272	Malar flattening
OMIM:108721	FLNB	2317	HP:0002982	Tibial bowing
OMIM:108721	FLNB	2317	HP:0000269	Prominent occiput
OMIM:108721	FLNB	2317	HP:0001762	Talipes equinovarus
OMIM:108721	FLNB	2317	HP:0000327	Hypoplasia of the maxilla
OMIM:108721	FLNB	2317	HP:0002650	Scoliosis
OMIM:108721	FLNB	2317	HP:0000175	Cleft palate
OMIM:108721	FLNB	2317	HP:0011800	Hypoplasia of midface
OMIM:108721	FLNB	2317	HP:0000006	Autosomal dominant inheritance
OMIM:108721	FLNB	2317	HP:0000347	Micrognathia
OMIM:108721	FLNB	2317	HP:0005280	Depressed nasal bridge
OMIM:108721	FLNB	2317	HP:0002986	Radial bowing
OMIM:108721	FLNB	2317	HP:0000470	Short neck
OMIM:108721	FLNB	2317	HP:0001852	Sandal gap
OMIM:108721	FLNB	2317	HP:0008905	Rhizomelia
OMIM:611718	CNNM2	54805	HP:0002342	Intellectual disability, moderate
OMIM:611718	CNNM2	54805	HP:0000007	Autosomal recessive inheritance
OMIM:611718	CNNM2	54805	HP:0001250	Seizures
OMIM:611718	CNNM2	54805	HP:0001263	Global developmental delay
OMIM:611718	EGF	1950	HP:0002342	Intellectual disability, moderate
OMIM:611718	EGF	1950	HP:0000007	Autosomal recessive inheritance
OMIM:611718	EGF	1950	HP:0001250	Seizures
OMIM:611718	EGF	1950	HP:0001263	Global developmental delay
OMIM:609814	CFH	3075	HP:0003621	Juvenile onset
OMIM:609814	CFH	3075	HP:0000007	Autosomal recessive inheritance
OMIM:609814	CFH	3075	HP:0000790	Hematuria
OMIM:609814	CFH	3075	HP:0003812	Phenotypic variability
OMIM:609814	CFH	3075	HP:0002718	Recurrent bacterial infections
OMIM:609814	CFH	3075	HP:0005369	Decreased serum complement factor H
OMIM:609814	CFH	3075	HP:0012622	Chronic kidney disease
OMIM:609814	CFH	3075	HP:0000006	Autosomal dominant inheritance
OMIM:609814	CFHR1	3078	HP:0003621	Juvenile onset
OMIM:609814	CFHR1	3078	HP:0000007	Autosomal recessive inheritance
OMIM:609814	CFHR1	3078	HP:0000790	Hematuria
OMIM:609814	CFHR1	3078	HP:0003812	Phenotypic variability
OMIM:609814	CFHR1	3078	HP:0002718	Recurrent bacterial infections
OMIM:609814	CFHR1	3078	HP:0005369	Decreased serum complement factor H
OMIM:609814	CFHR1	3078	HP:0012622	Chronic kidney disease
OMIM:609814	CFHR1	3078	HP:0000006	Autosomal dominant inheritance
OMIM:614521	MPL	4352	HP:0000006	Autosomal dominant inheritance
OMIM:614521	MPL	4352	HP:0001428	Somatic mutation
OMIM:614521	MPL	4352	HP:0001894	Thrombocytosis
OMIM:614521	SH2B3	10019	HP:0000006	Autosomal dominant inheritance
OMIM:614521	SH2B3	10019	HP:0001428	Somatic mutation
OMIM:614521	SH2B3	10019	HP:0001894	Thrombocytosis
OMIM:614521	JAK2	3717	HP:0000006	Autosomal dominant inheritance
OMIM:614521	JAK2	3717	HP:0001428	Somatic mutation
OMIM:614521	JAK2	3717	HP:0001894	Thrombocytosis
OMIM:614521	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:614521	TP53	7157	HP:0001428	Somatic mutation
OMIM:614521	TP53	7157	HP:0001894	Thrombocytosis
OMIM:614521	TET2	54790	HP:0000006	Autosomal dominant inheritance
OMIM:614521	TET2	54790	HP:0001428	Somatic mutation
OMIM:614521	TET2	54790	HP:0001894	Thrombocytosis
OMIM:614521	THPO	7066	HP:0000006	Autosomal dominant inheritance
OMIM:614521	THPO	7066	HP:0001428	Somatic mutation
OMIM:614521	THPO	7066	HP:0001894	Thrombocytosis
OMIM:614521	CALR	811	HP:0000006	Autosomal dominant inheritance
OMIM:614521	CALR	811	HP:0001428	Somatic mutation
OMIM:614521	CALR	811	HP:0001894	Thrombocytosis
ORPHANET:1334	IL17RC	84818	HP:0002205	Recurrent respiratory infections
ORPHANET:1334	IL17RC	84818	HP:0004306	Abnormality of the endocardium
ORPHANET:1334	IL17RC	84818	HP:0000010	Recurrent urinary tract infections
ORPHANET:1334	IL17RC	84818	HP:0000478	Abnormality of the eye
ORPHANET:1334	IL17RC	84818	HP:0200042	Skin ulcer
ORPHANET:1334	IL17RC	84818	HP:0000682	Abnormality of dental enamel
ORPHANET:1334	IL17RC	84818	HP:0000962	Hyperkeratosis
ORPHANET:1334	IL17RC	84818	HP:0000988	Skin rash
ORPHANET:1334	IL17RC	84818	HP:0001250	Seizures
ORPHANET:1334	IL17RC	84818	HP:0001231	Abnormality of the fingernails
ORPHANET:1334	IL17RC	84818	HP:0004370	Abnormality of temperature regulation
ORPHANET:1334	IL17RC	84818	HP:0000142	Abnormality of the vagina
ORPHANET:1334	IL17RC	84818	HP:0008872	Feeding difficulties in infancy
ORPHANET:1334	IL17RC	84818	HP:0000790	Hematuria
ORPHANET:1334	IL17RC	84818	HP:0000989	Pruritus
ORPHANET:1334	IL17RC	84818	HP:0008388	Abnormality of the toenails
ORPHANET:1334	IL17RC	84818	HP:0001392	Abnormality of the liver
ORPHANET:1334	STAT1	6772	HP:0002205	Recurrent respiratory infections
ORPHANET:1334	STAT1	6772	HP:0004306	Abnormality of the endocardium
ORPHANET:1334	STAT1	6772	HP:0000010	Recurrent urinary tract infections
ORPHANET:1334	STAT1	6772	HP:0000478	Abnormality of the eye
ORPHANET:1334	STAT1	6772	HP:0200042	Skin ulcer
ORPHANET:1334	STAT1	6772	HP:0000682	Abnormality of dental enamel
ORPHANET:1334	STAT1	6772	HP:0000962	Hyperkeratosis
ORPHANET:1334	STAT1	6772	HP:0000988	Skin rash
ORPHANET:1334	STAT1	6772	HP:0001250	Seizures
ORPHANET:1334	STAT1	6772	HP:0001231	Abnormality of the fingernails
ORPHANET:1334	STAT1	6772	HP:0004370	Abnormality of temperature regulation
ORPHANET:1334	STAT1	6772	HP:0000142	Abnormality of the vagina
ORPHANET:1334	STAT1	6772	HP:0008872	Feeding difficulties in infancy
ORPHANET:1334	STAT1	6772	HP:0000790	Hematuria
ORPHANET:1334	STAT1	6772	HP:0000989	Pruritus
ORPHANET:1334	STAT1	6772	HP:0008388	Abnormality of the toenails
ORPHANET:1334	STAT1	6772	HP:0001392	Abnormality of the liver
ORPHANET:1334	CLEC7A	64581	HP:0002205	Recurrent respiratory infections
ORPHANET:1334	CLEC7A	64581	HP:0004306	Abnormality of the endocardium
ORPHANET:1334	CLEC7A	64581	HP:0000010	Recurrent urinary tract infections
ORPHANET:1334	CLEC7A	64581	HP:0000478	Abnormality of the eye
ORPHANET:1334	CLEC7A	64581	HP:0200042	Skin ulcer
ORPHANET:1334	CLEC7A	64581	HP:0000682	Abnormality of dental enamel
ORPHANET:1334	CLEC7A	64581	HP:0000962	Hyperkeratosis
ORPHANET:1334	CLEC7A	64581	HP:0000988	Skin rash
ORPHANET:1334	CLEC7A	64581	HP:0001250	Seizures
ORPHANET:1334	CLEC7A	64581	HP:0001231	Abnormality of the fingernails
ORPHANET:1334	CLEC7A	64581	HP:0004370	Abnormality of temperature regulation
ORPHANET:1334	CLEC7A	64581	HP:0000142	Abnormality of the vagina
ORPHANET:1334	CLEC7A	64581	HP:0008872	Feeding difficulties in infancy
ORPHANET:1334	CLEC7A	64581	HP:0000790	Hematuria
ORPHANET:1334	CLEC7A	64581	HP:0000989	Pruritus
ORPHANET:1334	CLEC7A	64581	HP:0008388	Abnormality of the toenails
ORPHANET:1334	CLEC7A	64581	HP:0001392	Abnormality of the liver
ORPHANET:1334	IL17RA	23765	HP:0002205	Recurrent respiratory infections
ORPHANET:1334	IL17RA	23765	HP:0004306	Abnormality of the endocardium
ORPHANET:1334	IL17RA	23765	HP:0000010	Recurrent urinary tract infections
ORPHANET:1334	IL17RA	23765	HP:0000478	Abnormality of the eye
ORPHANET:1334	IL17RA	23765	HP:0200042	Skin ulcer
ORPHANET:1334	IL17RA	23765	HP:0000682	Abnormality of dental enamel
ORPHANET:1334	IL17RA	23765	HP:0000962	Hyperkeratosis
ORPHANET:1334	IL17RA	23765	HP:0000988	Skin rash
ORPHANET:1334	IL17RA	23765	HP:0001250	Seizures
ORPHANET:1334	IL17RA	23765	HP:0001231	Abnormality of the fingernails
ORPHANET:1334	IL17RA	23765	HP:0004370	Abnormality of temperature regulation
ORPHANET:1334	IL17RA	23765	HP:0000142	Abnormality of the vagina
ORPHANET:1334	IL17RA	23765	HP:0008872	Feeding difficulties in infancy
ORPHANET:1334	IL17RA	23765	HP:0000790	Hematuria
ORPHANET:1334	IL17RA	23765	HP:0000989	Pruritus
ORPHANET:1334	IL17RA	23765	HP:0008388	Abnormality of the toenails
ORPHANET:1334	IL17RA	23765	HP:0001392	Abnormality of the liver
ORPHANET:1334	TRAF3IP2	10758	HP:0002205	Recurrent respiratory infections
ORPHANET:1334	TRAF3IP2	10758	HP:0004306	Abnormality of the endocardium
ORPHANET:1334	TRAF3IP2	10758	HP:0000010	Recurrent urinary tract infections
ORPHANET:1334	TRAF3IP2	10758	HP:0000478	Abnormality of the eye
ORPHANET:1334	TRAF3IP2	10758	HP:0200042	Skin ulcer
ORPHANET:1334	TRAF3IP2	10758	HP:0000682	Abnormality of dental enamel
ORPHANET:1334	TRAF3IP2	10758	HP:0000962	Hyperkeratosis
ORPHANET:1334	TRAF3IP2	10758	HP:0000988	Skin rash
ORPHANET:1334	TRAF3IP2	10758	HP:0001250	Seizures
ORPHANET:1334	TRAF3IP2	10758	HP:0001231	Abnormality of the fingernails
ORPHANET:1334	TRAF3IP2	10758	HP:0004370	Abnormality of temperature regulation
ORPHANET:1334	TRAF3IP2	10758	HP:0000142	Abnormality of the vagina
ORPHANET:1334	TRAF3IP2	10758	HP:0008872	Feeding difficulties in infancy
ORPHANET:1334	TRAF3IP2	10758	HP:0000790	Hematuria
ORPHANET:1334	TRAF3IP2	10758	HP:0000989	Pruritus
ORPHANET:1334	TRAF3IP2	10758	HP:0008388	Abnormality of the toenails
ORPHANET:1334	TRAF3IP2	10758	HP:0001392	Abnormality of the liver
ORPHANET:1334	IL17F	112744	HP:0002205	Recurrent respiratory infections
ORPHANET:1334	IL17F	112744	HP:0004306	Abnormality of the endocardium
ORPHANET:1334	IL17F	112744	HP:0000010	Recurrent urinary tract infections
ORPHANET:1334	IL17F	112744	HP:0000478	Abnormality of the eye
ORPHANET:1334	IL17F	112744	HP:0200042	Skin ulcer
ORPHANET:1334	IL17F	112744	HP:0000682	Abnormality of dental enamel
ORPHANET:1334	IL17F	112744	HP:0000962	Hyperkeratosis
ORPHANET:1334	IL17F	112744	HP:0000988	Skin rash
ORPHANET:1334	IL17F	112744	HP:0001250	Seizures
ORPHANET:1334	IL17F	112744	HP:0001231	Abnormality of the fingernails
ORPHANET:1334	IL17F	112744	HP:0004370	Abnormality of temperature regulation
ORPHANET:1334	IL17F	112744	HP:0000142	Abnormality of the vagina
ORPHANET:1334	IL17F	112744	HP:0008872	Feeding difficulties in infancy
ORPHANET:1334	IL17F	112744	HP:0000790	Hematuria
ORPHANET:1334	IL17F	112744	HP:0000989	Pruritus
ORPHANET:1334	IL17F	112744	HP:0008388	Abnormality of the toenails
ORPHANET:1334	IL17F	112744	HP:0001392	Abnormality of the liver
ORPHANET:1334	CARD9	64170	HP:0002205	Recurrent respiratory infections
ORPHANET:1334	CARD9	64170	HP:0004306	Abnormality of the endocardium
ORPHANET:1334	CARD9	64170	HP:0000010	Recurrent urinary tract infections
ORPHANET:1334	CARD9	64170	HP:0000478	Abnormality of the eye
ORPHANET:1334	CARD9	64170	HP:0200042	Skin ulcer
ORPHANET:1334	CARD9	64170	HP:0000682	Abnormality of dental enamel
ORPHANET:1334	CARD9	64170	HP:0000962	Hyperkeratosis
ORPHANET:1334	CARD9	64170	HP:0000988	Skin rash
ORPHANET:1334	CARD9	64170	HP:0001250	Seizures
ORPHANET:1334	CARD9	64170	HP:0001231	Abnormality of the fingernails
ORPHANET:1334	CARD9	64170	HP:0004370	Abnormality of temperature regulation
ORPHANET:1334	CARD9	64170	HP:0000142	Abnormality of the vagina
ORPHANET:1334	CARD9	64170	HP:0008872	Feeding difficulties in infancy
ORPHANET:1334	CARD9	64170	HP:0000790	Hematuria
ORPHANET:1334	CARD9	64170	HP:0000989	Pruritus
ORPHANET:1334	CARD9	64170	HP:0008388	Abnormality of the toenails
ORPHANET:1334	CARD9	64170	HP:0001392	Abnormality of the liver
OMIM:136900	TIMP3	7078	HP:0000006	Autosomal dominant inheritance
OMIM:180849	CREBBP	1387	HP:0000508	Ptosis
OMIM:180849	CREBBP	1387	HP:0002317	Unsteady gait
OMIM:180849	CREBBP	1387	HP:0000347	Micrognathia
OMIM:180849	CREBBP	1387	HP:0001643	Patent ductus arteriosus
OMIM:180849	CREBBP	1387	HP:0000369	Low-set ears
OMIM:180849	CREBBP	1387	HP:0001250	Seizures
OMIM:180849	CREBBP	1387	HP:0000954	Single transverse palmar crease
OMIM:180849	CREBBP	1387	HP:0000589	Coloboma
OMIM:180849	CREBBP	1387	HP:0000957	Cafe-au-lait spot
OMIM:180849	CREBBP	1387	HP:0009921	Duane anomaly
OMIM:180849	CREBBP	1387	HP:0000501	Glaucoma
OMIM:180849	CREBBP	1387	HP:0000252	Microcephaly
OMIM:180849	CREBBP	1387	HP:0000028	Cryptorchidism
OMIM:180849	CREBBP	1387	HP:0003828	Variable expressivity
OMIM:180849	CREBBP	1387	HP:0000689	Dental malocclusion
OMIM:180849	CREBBP	1387	HP:0010314	Premature thelarche
OMIM:180849	CREBBP	1387	HP:0000742	Self-mutilation
OMIM:180849	CREBBP	1387	HP:0002788	Recurrent upper respiratory tract infections
OMIM:180849	CREBBP	1387	HP:0011675	Arrhythmia
OMIM:180849	CREBBP	1387	HP:0000518	Cataract
OMIM:180849	CREBBP	1387	HP:0001371	Flexion contracture
OMIM:180849	CREBBP	1387	HP:0001159	Syndactyly
OMIM:180849	CREBBP	1387	HP:0003745	Sporadic
OMIM:180849	CREBBP	1387	HP:0000218	High palate
OMIM:180849	CREBBP	1387	HP:0001252	Muscular hypotonia
OMIM:180849	CREBBP	1387	HP:0003083	Dislocated radial head
OMIM:180849	CREBBP	1387	HP:0010055	Broad hallux
OMIM:180849	CREBBP	1387	HP:0001601	Laryngomalacia
OMIM:180849	CREBBP	1387	HP:0004209	Clinodactyly of the 5th finger
OMIM:180849	CREBBP	1387	HP:0001347	Hyperreflexia
OMIM:180849	CREBBP	1387	HP:0000750	Delayed speech and language development
OMIM:180849	CREBBP	1387	HP:0001763	Pes planus
OMIM:180849	CREBBP	1387	HP:0000717	Autism
OMIM:180849	CREBBP	1387	HP:0001956	Truncal obesity
OMIM:180849	CREBBP	1387	HP:0002869	Flared iliac wings
OMIM:180849	CREBBP	1387	HP:0000377	Abnormality of the pinna
OMIM:180849	CREBBP	1387	HP:0000539	Abnormality of refraction
OMIM:180849	CREBBP	1387	HP:0000736	Short attention span
OMIM:180849	CREBBP	1387	HP:0001631	Atria septal defect
OMIM:180849	CREBBP	1387	HP:0001007	Hirsutism
OMIM:180849	CREBBP	1387	HP:0001274	Agenesis of corpus callosum
OMIM:180849	CREBBP	1387	HP:0002353	EEG abnormality
OMIM:180849	CREBBP	1387	HP:0002999	Patellar dislocation
OMIM:180849	CREBBP	1387	HP:0002750	Delayed skeletal maturation
OMIM:180849	CREBBP	1387	HP:0006297	Hypoplasia of dental enamel
OMIM:180849	CREBBP	1387	HP:0000678	Dental crowding
OMIM:180849	CREBBP	1387	HP:0001508	Failure to thrive
OMIM:180849	CREBBP	1387	HP:0010442	Polydactyly
OMIM:180849	CREBBP	1387	HP:0001388	Joint laxity
OMIM:180849	CREBBP	1387	HP:0000481	Abnormality of the cornea
OMIM:180849	CREBBP	1387	HP:0000365	Hearing impairment
OMIM:180849	CREBBP	1387	HP:0000327	Hypoplasia of the maxilla
OMIM:180849	CREBBP	1387	HP:0001629	Ventricular septal defect
OMIM:180849	CREBBP	1387	HP:0000294	Low anterior hairline
OMIM:180849	CREBBP	1387	HP:0002162	Low posterior hairline
OMIM:180849	CREBBP	1387	HP:0000733	Stereotypic behavior
OMIM:180849	CREBBP	1387	HP:0002007	Frontal bossing
OMIM:180849	CREBBP	1387	HP:0000527	Long eyelashes
OMIM:180849	CREBBP	1387	HP:0002650	Scoliosis
OMIM:180849	CREBBP	1387	HP:0000049	Shawl scrotum
OMIM:180849	CREBBP	1387	HP:0000286	Epicanthus
OMIM:180849	CREBBP	1387	HP:0001425	Heterogeneous
OMIM:180849	CREBBP	1387	HP:0000520	Proptosis
OMIM:180849	CREBBP	1387	HP:0004322	Short stature
OMIM:180849	CREBBP	1387	HP:0000270	Delayed cranial suture closure
OMIM:180849	CREBBP	1387	HP:0000047	Hypospadias
OMIM:180849	CREBBP	1387	HP:0002251	Aganglionic megacolon
OMIM:180849	CREBBP	1387	HP:0002700	Large foramen magnum
OMIM:180849	CREBBP	1387	HP:0000490	Deeply set eye
OMIM:180849	CREBBP	1387	HP:0000752	Hyperactivity
OMIM:180849	CREBBP	1387	HP:0000767	Pectus excavatum
OMIM:180849	CREBBP	1387	HP:0008872	Feeding difficulties in infancy
OMIM:180849	CREBBP	1387	HP:0002553	Highly arched eyebrow
OMIM:180849	CREBBP	1387	HP:0001249	Intellectual disability
OMIM:180849	CREBBP	1387	HP:0000431	Wide nasal bridge
OMIM:180849	CREBBP	1387	HP:0000444	Convex nasal ridge
OMIM:180849	CREBBP	1387	HP:0002019	Constipation
OMIM:180849	CREBBP	1387	HP:0002183	Phonophobia
OMIM:180849	CREBBP	1387	HP:0000756	Agoraphobia
OMIM:180849	CREBBP	1387	HP:0006483	Abnormal number of teeth
OMIM:180849	CREBBP	1387	HP:0003319	Abnormality of the cervical spine
OMIM:180849	CREBBP	1387	HP:0000189	Narrow palate
OMIM:180849	CREBBP	1387	HP:0002880	Respiratory difficulties
OMIM:180849	CREBBP	1387	HP:0008897	Postnatal growth retardation
OMIM:180849	CREBBP	1387	HP:0002697	Parietal foramina
OMIM:180849	CREBBP	1387	HP:0000278	Retrognathia
OMIM:180849	CREBBP	1387	HP:0000494	Downslanted palpebral fissures
OMIM:180849	CREBBP	1387	HP:0000574	Thick eyebrow
OMIM:180849	CREBBP	1387	HP:0002370	Poor coordination
OMIM:180849	CREBBP	1387	HP:0000160	Narrow mouth
OMIM:180849	CREBBP	1387	HP:0011304	Broad thumb
OMIM:180849	CREBBP	1387	HP:0000077	Abnormality of the kidney
OMIM:180849	CREBBP	1387	HP:0010066	Duplication of phalanx of hallux
OMIM:180849	CREBBP	1387	HP:0003298	Spina bifida occulta
OMIM:180849	CREBBP	1387	HP:0001561	Polyhydramnios
OMIM:180849	CREBBP	1387	HP:0000006	Autosomal dominant inheritance
OMIM:180849	CREBBP	1387	HP:0000486	Strabismus
OMIM:615031	TECPR2	9895	HP:0001260	Dysarthria
OMIM:615031	TECPR2	9895	HP:0002871	Central apnea
OMIM:615031	TECPR2	9895	HP:0000311	Round face
OMIM:615031	TECPR2	9895	HP:0001284	Areflexia
OMIM:615031	TECPR2	9895	HP:0001258	Spastic paraplegia
OMIM:615031	TECPR2	9895	HP:0002020	Gastroesophageal reflux
OMIM:615031	TECPR2	9895	HP:0000678	Dental crowding
OMIM:615031	TECPR2	9895	HP:0002066	Gait ataxia
OMIM:615031	TECPR2	9895	HP:0001263	Global developmental delay
OMIM:615031	TECPR2	9895	HP:0000248	Brachycephaly
OMIM:615031	TECPR2	9895	HP:0001250	Seizures
OMIM:615031	TECPR2	9895	HP:0000252	Microcephaly
OMIM:615031	TECPR2	9895	HP:0002059	Cerebral atrophy
OMIM:615031	TECPR2	9895	HP:0002064	Spastic gait
OMIM:615031	TECPR2	9895	HP:0001252	Muscular hypotonia
OMIM:615031	TECPR2	9895	HP:0000294	Low anterior hairline
OMIM:615031	TECPR2	9895	HP:0001310	Dysmetria
OMIM:615031	TECPR2	9895	HP:0000470	Short neck
OMIM:615031	TECPR2	9895	HP:0000007	Autosomal recessive inheritance
OMIM:615031	TECPR2	9895	HP:0004322	Short stature
OMIM:615031	TECPR2	9895	HP:0002079	Hypoplasia of the corpus callosum
OMIM:177850	ABCC6	368	HP:0007663	Reduced visual acuity
OMIM:177850	ABCC6	368	HP:0000505	Visual impairment
OMIM:177850	ABCC6	368	HP:0000592	Blue sclerae
OMIM:177850	ABCC6	368	HP:0002239	Gastrointestinal hemorrhage
OMIM:177850	ABCC6	368	HP:0000951	Abnormality of the skin
OMIM:177850	ABCC6	368	HP:0000006	Autosomal dominant inheritance
OMIM:177850	ABCC6	368	HP:0002808	Kyphosis
OMIM:177850	ABCC6	368	HP:0001102	Angioid streaks of the retina
OMIM:177850	ABCC6	368	HP:0000608	Macular degeneration
OMIM:177850	ABCC6	368	HP:0002650	Scoliosis
OMIM:177850	ABCC6	368	HP:0000766	Abnormality of the sternum
OMIM:177850	ABCC6	368	HP:0000545	Myopia
OMIM:177850	ABCC6	368	HP:0000218	High palate
OMIM:177850	ABCC6	368	HP:0001634	Mitral valve prolapse
OMIM:177850	ENPP1	5167	HP:0007663	Reduced visual acuity
OMIM:177850	ENPP1	5167	HP:0000505	Visual impairment
OMIM:177850	ENPP1	5167	HP:0000592	Blue sclerae
OMIM:177850	ENPP1	5167	HP:0002239	Gastrointestinal hemorrhage
OMIM:177850	ENPP1	5167	HP:0000951	Abnormality of the skin
OMIM:177850	ENPP1	5167	HP:0000006	Autosomal dominant inheritance
OMIM:177850	ENPP1	5167	HP:0002808	Kyphosis
OMIM:177850	ENPP1	5167	HP:0001102	Angioid streaks of the retina
OMIM:177850	ENPP1	5167	HP:0000608	Macular degeneration
OMIM:177850	ENPP1	5167	HP:0002650	Scoliosis
OMIM:177850	ENPP1	5167	HP:0000766	Abnormality of the sternum
OMIM:177850	ENPP1	5167	HP:0000545	Myopia
OMIM:177850	ENPP1	5167	HP:0000218	High palate
OMIM:177850	ENPP1	5167	HP:0001634	Mitral valve prolapse
ORPHANET:124	TSR2	90121	HP:0000179	Thick lower lip vermilion
ORPHANET:124	TSR2	90121	HP:0004322	Short stature
ORPHANET:124	TSR2	90121	HP:0002076	Migraine
ORPHANET:124	TSR2	90121	HP:0002488	Acute leukemia
ORPHANET:124	TSR2	90121	HP:0000457	Depressed nasal ridge
ORPHANET:124	TSR2	90121	HP:0000980	Pallor
ORPHANET:124	TSR2	90121	HP:0001155	Abnormality of the hand
ORPHANET:124	TSR2	90121	HP:0003196	Short nose
ORPHANET:124	TSR2	90121	HP:0000078	Abnormality of the genital system
ORPHANET:124	TSR2	90121	HP:0000079	Abnormality of the urinary system
ORPHANET:124	TSR2	90121	HP:0011675	Arrhythmia
ORPHANET:124	TSR2	90121	HP:0000175	Cleft palate
ORPHANET:124	TSR2	90121	HP:0001972	Macrocytic anemia
ORPHANET:124	RPS17	6218	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPS17	6218	HP:0004322	Short stature
ORPHANET:124	RPS17	6218	HP:0002076	Migraine
ORPHANET:124	RPS17	6218	HP:0002488	Acute leukemia
ORPHANET:124	RPS17	6218	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPS17	6218	HP:0000980	Pallor
ORPHANET:124	RPS17	6218	HP:0001155	Abnormality of the hand
ORPHANET:124	RPS17	6218	HP:0003196	Short nose
ORPHANET:124	RPS17	6218	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPS17	6218	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPS17	6218	HP:0011675	Arrhythmia
ORPHANET:124	RPS17	6218	HP:0000175	Cleft palate
ORPHANET:124	RPS17	6218	HP:0001972	Macrocytic anemia
ORPHANET:124	RPL26	6154	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPL26	6154	HP:0004322	Short stature
ORPHANET:124	RPL26	6154	HP:0002076	Migraine
ORPHANET:124	RPL26	6154	HP:0002488	Acute leukemia
ORPHANET:124	RPL26	6154	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPL26	6154	HP:0000980	Pallor
ORPHANET:124	RPL26	6154	HP:0001155	Abnormality of the hand
ORPHANET:124	RPL26	6154	HP:0003196	Short nose
ORPHANET:124	RPL26	6154	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPL26	6154	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPL26	6154	HP:0011675	Arrhythmia
ORPHANET:124	RPL26	6154	HP:0000175	Cleft palate
ORPHANET:124	RPL26	6154	HP:0001972	Macrocytic anemia
ORPHANET:124	RPL5	6125	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPL5	6125	HP:0004322	Short stature
ORPHANET:124	RPL5	6125	HP:0002076	Migraine
ORPHANET:124	RPL5	6125	HP:0002488	Acute leukemia
ORPHANET:124	RPL5	6125	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPL5	6125	HP:0000980	Pallor
ORPHANET:124	RPL5	6125	HP:0001155	Abnormality of the hand
ORPHANET:124	RPL5	6125	HP:0003196	Short nose
ORPHANET:124	RPL5	6125	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPL5	6125	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPL5	6125	HP:0011675	Arrhythmia
ORPHANET:124	RPL5	6125	HP:0000175	Cleft palate
ORPHANET:124	RPL5	6125	HP:0001972	Macrocytic anemia
ORPHANET:124	RPS19	6223	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPS19	6223	HP:0004322	Short stature
ORPHANET:124	RPS19	6223	HP:0002076	Migraine
ORPHANET:124	RPS19	6223	HP:0002488	Acute leukemia
ORPHANET:124	RPS19	6223	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPS19	6223	HP:0000980	Pallor
ORPHANET:124	RPS19	6223	HP:0001155	Abnormality of the hand
ORPHANET:124	RPS19	6223	HP:0003196	Short nose
ORPHANET:124	RPS19	6223	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPS19	6223	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPS19	6223	HP:0011675	Arrhythmia
ORPHANET:124	RPS19	6223	HP:0000175	Cleft palate
ORPHANET:124	RPS19	6223	HP:0001972	Macrocytic anemia
ORPHANET:124	RPS24	6229	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPS24	6229	HP:0004322	Short stature
ORPHANET:124	RPS24	6229	HP:0002076	Migraine
ORPHANET:124	RPS24	6229	HP:0002488	Acute leukemia
ORPHANET:124	RPS24	6229	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPS24	6229	HP:0000980	Pallor
ORPHANET:124	RPS24	6229	HP:0001155	Abnormality of the hand
ORPHANET:124	RPS24	6229	HP:0003196	Short nose
ORPHANET:124	RPS24	6229	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPS24	6229	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPS24	6229	HP:0011675	Arrhythmia
ORPHANET:124	RPS24	6229	HP:0000175	Cleft palate
ORPHANET:124	RPS24	6229	HP:0001972	Macrocytic anemia
ORPHANET:124	RPL35A	6165	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPL35A	6165	HP:0004322	Short stature
ORPHANET:124	RPL35A	6165	HP:0002076	Migraine
ORPHANET:124	RPL35A	6165	HP:0002488	Acute leukemia
ORPHANET:124	RPL35A	6165	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPL35A	6165	HP:0000980	Pallor
ORPHANET:124	RPL35A	6165	HP:0001155	Abnormality of the hand
ORPHANET:124	RPL35A	6165	HP:0003196	Short nose
ORPHANET:124	RPL35A	6165	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPL35A	6165	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPL35A	6165	HP:0011675	Arrhythmia
ORPHANET:124	RPL35A	6165	HP:0000175	Cleft palate
ORPHANET:124	RPL35A	6165	HP:0001972	Macrocytic anemia
ORPHANET:124	RPL11	6135	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPL11	6135	HP:0004322	Short stature
ORPHANET:124	RPL11	6135	HP:0002076	Migraine
ORPHANET:124	RPL11	6135	HP:0002488	Acute leukemia
ORPHANET:124	RPL11	6135	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPL11	6135	HP:0000980	Pallor
ORPHANET:124	RPL11	6135	HP:0001155	Abnormality of the hand
ORPHANET:124	RPL11	6135	HP:0003196	Short nose
ORPHANET:124	RPL11	6135	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPL11	6135	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPL11	6135	HP:0011675	Arrhythmia
ORPHANET:124	RPL11	6135	HP:0000175	Cleft palate
ORPHANET:124	RPL11	6135	HP:0001972	Macrocytic anemia
ORPHANET:124	RPS26	6231	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPS26	6231	HP:0004322	Short stature
ORPHANET:124	RPS26	6231	HP:0002076	Migraine
ORPHANET:124	RPS26	6231	HP:0002488	Acute leukemia
ORPHANET:124	RPS26	6231	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPS26	6231	HP:0000980	Pallor
ORPHANET:124	RPS26	6231	HP:0001155	Abnormality of the hand
ORPHANET:124	RPS26	6231	HP:0003196	Short nose
ORPHANET:124	RPS26	6231	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPS26	6231	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPS26	6231	HP:0011675	Arrhythmia
ORPHANET:124	RPS26	6231	HP:0000175	Cleft palate
ORPHANET:124	RPS26	6231	HP:0001972	Macrocytic anemia
ORPHANET:124	RPS7	6201	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPS7	6201	HP:0004322	Short stature
ORPHANET:124	RPS7	6201	HP:0002076	Migraine
ORPHANET:124	RPS7	6201	HP:0002488	Acute leukemia
ORPHANET:124	RPS7	6201	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPS7	6201	HP:0000980	Pallor
ORPHANET:124	RPS7	6201	HP:0001155	Abnormality of the hand
ORPHANET:124	RPS7	6201	HP:0003196	Short nose
ORPHANET:124	RPS7	6201	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPS7	6201	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPS7	6201	HP:0011675	Arrhythmia
ORPHANET:124	RPS7	6201	HP:0000175	Cleft palate
ORPHANET:124	RPS7	6201	HP:0001972	Macrocytic anemia
ORPHANET:124	RPL15	6138	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPL15	6138	HP:0004322	Short stature
ORPHANET:124	RPL15	6138	HP:0002076	Migraine
ORPHANET:124	RPL15	6138	HP:0002488	Acute leukemia
ORPHANET:124	RPL15	6138	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPL15	6138	HP:0000980	Pallor
ORPHANET:124	RPL15	6138	HP:0001155	Abnormality of the hand
ORPHANET:124	RPL15	6138	HP:0003196	Short nose
ORPHANET:124	RPL15	6138	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPL15	6138	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPL15	6138	HP:0011675	Arrhythmia
ORPHANET:124	RPL15	6138	HP:0000175	Cleft palate
ORPHANET:124	RPL15	6138	HP:0001972	Macrocytic anemia
ORPHANET:124	RPS28	6234	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPS28	6234	HP:0004322	Short stature
ORPHANET:124	RPS28	6234	HP:0002076	Migraine
ORPHANET:124	RPS28	6234	HP:0002488	Acute leukemia
ORPHANET:124	RPS28	6234	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPS28	6234	HP:0000980	Pallor
ORPHANET:124	RPS28	6234	HP:0001155	Abnormality of the hand
ORPHANET:124	RPS28	6234	HP:0003196	Short nose
ORPHANET:124	RPS28	6234	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPS28	6234	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPS28	6234	HP:0011675	Arrhythmia
ORPHANET:124	RPS28	6234	HP:0000175	Cleft palate
ORPHANET:124	RPS28	6234	HP:0001972	Macrocytic anemia
ORPHANET:124	RPS29	6235	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPS29	6235	HP:0004322	Short stature
ORPHANET:124	RPS29	6235	HP:0002076	Migraine
ORPHANET:124	RPS29	6235	HP:0002488	Acute leukemia
ORPHANET:124	RPS29	6235	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPS29	6235	HP:0000980	Pallor
ORPHANET:124	RPS29	6235	HP:0001155	Abnormality of the hand
ORPHANET:124	RPS29	6235	HP:0003196	Short nose
ORPHANET:124	RPS29	6235	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPS29	6235	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPS29	6235	HP:0011675	Arrhythmia
ORPHANET:124	RPS29	6235	HP:0000175	Cleft palate
ORPHANET:124	RPS29	6235	HP:0001972	Macrocytic anemia
ORPHANET:124	RPS10	6204	HP:0000179	Thick lower lip vermilion
ORPHANET:124	RPS10	6204	HP:0004322	Short stature
ORPHANET:124	RPS10	6204	HP:0002076	Migraine
ORPHANET:124	RPS10	6204	HP:0002488	Acute leukemia
ORPHANET:124	RPS10	6204	HP:0000457	Depressed nasal ridge
ORPHANET:124	RPS10	6204	HP:0000980	Pallor
ORPHANET:124	RPS10	6204	HP:0001155	Abnormality of the hand
ORPHANET:124	RPS10	6204	HP:0003196	Short nose
ORPHANET:124	RPS10	6204	HP:0000078	Abnormality of the genital system
ORPHANET:124	RPS10	6204	HP:0000079	Abnormality of the urinary system
ORPHANET:124	RPS10	6204	HP:0011675	Arrhythmia
ORPHANET:124	RPS10	6204	HP:0000175	Cleft palate
ORPHANET:124	RPS10	6204	HP:0001972	Macrocytic anemia
ORPHANET:124	GATA1	2623	HP:0000179	Thick lower lip vermilion
ORPHANET:124	GATA1	2623	HP:0004322	Short stature
ORPHANET:124	GATA1	2623	HP:0002076	Migraine
ORPHANET:124	GATA1	2623	HP:0002488	Acute leukemia
ORPHANET:124	GATA1	2623	HP:0000457	Depressed nasal ridge
ORPHANET:124	GATA1	2623	HP:0000980	Pallor
ORPHANET:124	GATA1	2623	HP:0001155	Abnormality of the hand
ORPHANET:124	GATA1	2623	HP:0003196	Short nose
ORPHANET:124	GATA1	2623	HP:0000078	Abnormality of the genital system
ORPHANET:124	GATA1	2623	HP:0000079	Abnormality of the urinary system
ORPHANET:124	GATA1	2623	HP:0011675	Arrhythmia
ORPHANET:124	GATA1	2623	HP:0000175	Cleft palate
ORPHANET:124	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:252500	GNPTAB	79158	HP:0000882	Hypoplastic scapulae
OMIM:252500	GNPTAB	79158	HP:0001131	Corneal dystrophy
OMIM:252500	GNPTAB	79158	HP:0002240	Hepatomegaly
OMIM:252500	GNPTAB	79158	HP:0000485	Megalocornea
OMIM:252500	GNPTAB	79158	HP:0000158	Macroglossia
OMIM:252500	GNPTAB	79158	HP:0001537	Umbilical hernia
OMIM:252500	GNPTAB	79158	HP:0003819	Death in childhood
OMIM:252500	GNPTAB	79158	HP:0000280	Coarse facial features
OMIM:252500	GNPTAB	79158	HP:0002827	Hip dislocation
OMIM:252500	GNPTAB	79158	HP:0100543	Cognitive impairment
OMIM:252500	GNPTAB	79158	HP:0000343	Long philtrum
OMIM:252500	GNPTAB	79158	HP:0000463	Anteverted nares
OMIM:252500	GNPTAB	79158	HP:0000023	Inguinal hernia
OMIM:252500	GNPTAB	79158	HP:0006610	Wide intermamillary distance
OMIM:252500	GNPTAB	79158	HP:0001508	Failure to thrive
OMIM:252500	GNPTAB	79158	HP:0001744	Splenomegaly
OMIM:252500	GNPTAB	79158	HP:0001654	Abnormality of the heart valves
OMIM:252500	GNPTAB	79158	HP:0001538	Protuberant abdomen
OMIM:252500	GNPTAB	79158	HP:0001319	Neonatal hypotonia
OMIM:252500	GNPTAB	79158	HP:0001640	Cardiomegaly
OMIM:252500	GNPTAB	79158	HP:0007759	Opacification of the corneal stroma
OMIM:252500	GNPTAB	79158	HP:0006532	Recurrent pneumonia
OMIM:252500	GNPTAB	79158	HP:0000341	Narrow forehead
OMIM:252500	GNPTAB	79158	HP:0001547	Abnormality of the rib cage
OMIM:252500	GNPTAB	79158	HP:0000963	Thin skin
OMIM:252500	GNPTAB	79158	HP:0003016	Metaphyseal widening
OMIM:252500	GNPTAB	79158	HP:0000007	Autosomal recessive inheritance
OMIM:252500	GNPTAB	79158	HP:0001171	Split hand
OMIM:252500	GNPTAB	79158	HP:0002756	Pathologic fracture
OMIM:252500	GNPTAB	79158	HP:0011344	Severe global developmental delay
OMIM:252500	GNPTAB	79158	HP:0001609	Hoarse voice
OMIM:252500	GNPTAB	79158	HP:0001635	Congestive heart failure
OMIM:252500	GNPTAB	79158	HP:0002205	Recurrent respiratory infections
OMIM:252500	GNPTAB	79158	HP:0002808	Kyphosis
OMIM:252500	GNPTAB	79158	HP:0030148	Heart murmur
OMIM:252500	GNPTAB	79158	HP:0000998	Hypertrichosis
OMIM:252500	GNPTAB	79158	HP:0001824	Weight loss
OMIM:252500	GNPTAB	79158	HP:0001659	Aortic regurgitation
OMIM:252500	GNPTAB	79158	HP:0003019	Abnormality of the wrist
OMIM:252500	GNPTAB	79158	HP:0003026	Short long bone
OMIM:252500	GNPTAB	79158	HP:0003311	Hypoplasia of the odontoid process
OMIM:252500	GNPTAB	79158	HP:0002837	Recurrent bronchitis
OMIM:252500	GNPTAB	79158	HP:0008155	Mucopolysacchariduria
OMIM:252500	GNPTAB	79158	HP:0005280	Depressed nasal bridge
OMIM:252500	GNPTAB	79158	HP:0000535	Sparse eyebrow
OMIM:252500	GNPTAB	79158	HP:0000938	Osteopenia
OMIM:252500	GNPTAB	79158	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252500	GNPTAB	79158	HP:0003300	Ovoid vertebral bodies
OMIM:252500	GNPTAB	79158	HP:0002869	Flared iliac wings
OMIM:252500	GNPTAB	79158	HP:0004322	Short stature
OMIM:252500	GNPTAB	79158	HP:0000286	Epicanthus
OMIM:252500	GNPTAB	79158	HP:0000348	High forehead
OMIM:252500	GNPTAB	79158	HP:0001762	Talipes equinovarus
OMIM:252500	GNPTAB	79158	HP:0100790	Hernia
OMIM:252500	GNPTAB	79158	HP:0000765	Abnormality of the thorax
OMIM:252500	GNPTAB	79158	HP:0001498	Carpal bone hypoplasia
OMIM:252500	GNPTAB	79158	HP:0002684	Thickened calvaria
OMIM:252500	GNPTAB	79158	HP:0000403	Recurrent otitis media
OMIM:252500	GNPTAB	79158	HP:0002011	Morphological abnormality of the central nervous system
OMIM:252500	GNPTAB	79158	HP:0100679	Lack of skin elasticity
OMIM:616188	RLBP1	6017	HP:0007663	Reduced visual acuity
OMIM:616188	RLBP1	6017	HP:0000483	Astigmatism
OMIM:616188	RLBP1	6017	HP:0000545	Myopia
OMIM:616188	RLBP1	6017	HP:0000505	Visual impairment
OMIM:616188	RLBP1	6017	HP:0000541	Retinal detachment
OMIM:616188	RLBP1	6017	HP:0001513	Obesity
OMIM:616188	SPATA7	55812	HP:0007663	Reduced visual acuity
OMIM:616188	SPATA7	55812	HP:0000483	Astigmatism
OMIM:616188	SPATA7	55812	HP:0000545	Myopia
OMIM:616188	SPATA7	55812	HP:0000505	Visual impairment
OMIM:616188	SPATA7	55812	HP:0000541	Retinal detachment
OMIM:616188	SPATA7	55812	HP:0001513	Obesity
OMIM:616188	ARL6	84100	HP:0007663	Reduced visual acuity
OMIM:616188	ARL6	84100	HP:0000483	Astigmatism
OMIM:616188	ARL6	84100	HP:0000545	Myopia
OMIM:616188	ARL6	84100	HP:0000505	Visual impairment
OMIM:616188	ARL6	84100	HP:0000541	Retinal detachment
OMIM:616188	ARL6	84100	HP:0001513	Obesity
OMIM:616188	CERKL	375298	HP:0007663	Reduced visual acuity
OMIM:616188	CERKL	375298	HP:0000483	Astigmatism
OMIM:616188	CERKL	375298	HP:0000545	Myopia
OMIM:616188	CERKL	375298	HP:0000505	Visual impairment
OMIM:616188	CERKL	375298	HP:0000541	Retinal detachment
OMIM:616188	CERKL	375298	HP:0001513	Obesity
OMIM:616188	PRPF31	26121	HP:0007663	Reduced visual acuity
OMIM:616188	PRPF31	26121	HP:0000483	Astigmatism
OMIM:616188	PRPF31	26121	HP:0000545	Myopia
OMIM:616188	PRPF31	26121	HP:0000505	Visual impairment
OMIM:616188	PRPF31	26121	HP:0000541	Retinal detachment
OMIM:616188	PRPF31	26121	HP:0001513	Obesity
OMIM:616188	TTC8	123016	HP:0007663	Reduced visual acuity
OMIM:616188	TTC8	123016	HP:0000483	Astigmatism
OMIM:616188	TTC8	123016	HP:0000545	Myopia
OMIM:616188	TTC8	123016	HP:0000505	Visual impairment
OMIM:616188	TTC8	123016	HP:0000541	Retinal detachment
OMIM:616188	TTC8	123016	HP:0001513	Obesity
OMIM:616188	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:616188	PROM1	8842	HP:0000483	Astigmatism
OMIM:616188	PROM1	8842	HP:0000545	Myopia
OMIM:616188	PROM1	8842	HP:0000505	Visual impairment
OMIM:616188	PROM1	8842	HP:0000541	Retinal detachment
OMIM:616188	PROM1	8842	HP:0001513	Obesity
OMIM:616188	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:616188	LRAT	9227	HP:0000483	Astigmatism
OMIM:616188	LRAT	9227	HP:0000545	Myopia
OMIM:616188	LRAT	9227	HP:0000505	Visual impairment
OMIM:616188	LRAT	9227	HP:0000541	Retinal detachment
OMIM:616188	LRAT	9227	HP:0001513	Obesity
OMIM:616188	IFT140	9742	HP:0007663	Reduced visual acuity
OMIM:616188	IFT140	9742	HP:0000483	Astigmatism
OMIM:616188	IFT140	9742	HP:0000545	Myopia
OMIM:616188	IFT140	9742	HP:0000505	Visual impairment
OMIM:616188	IFT140	9742	HP:0000541	Retinal detachment
OMIM:616188	IFT140	9742	HP:0001513	Obesity
OMIM:616188	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:616188	BEST1	7439	HP:0000483	Astigmatism
OMIM:616188	BEST1	7439	HP:0000545	Myopia
OMIM:616188	BEST1	7439	HP:0000505	Visual impairment
OMIM:616188	BEST1	7439	HP:0000541	Retinal detachment
OMIM:616188	BEST1	7439	HP:0001513	Obesity
OMIM:616188	NEK2	4751	HP:0007663	Reduced visual acuity
OMIM:616188	NEK2	4751	HP:0000483	Astigmatism
OMIM:616188	NEK2	4751	HP:0000545	Myopia
OMIM:616188	NEK2	4751	HP:0000505	Visual impairment
OMIM:616188	NEK2	4751	HP:0000541	Retinal detachment
OMIM:616188	NEK2	4751	HP:0001513	Obesity
OMIM:616188	ARL2BP	23568	HP:0007663	Reduced visual acuity
OMIM:616188	ARL2BP	23568	HP:0000483	Astigmatism
OMIM:616188	ARL2BP	23568	HP:0000545	Myopia
OMIM:616188	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:616188	ARL2BP	23568	HP:0000541	Retinal detachment
OMIM:616188	ARL2BP	23568	HP:0001513	Obesity
OMIM:616188	NR2E3	10002	HP:0007663	Reduced visual acuity
OMIM:616188	NR2E3	10002	HP:0000483	Astigmatism
OMIM:616188	NR2E3	10002	HP:0000545	Myopia
OMIM:616188	NR2E3	10002	HP:0000505	Visual impairment
OMIM:616188	NR2E3	10002	HP:0000541	Retinal detachment
OMIM:616188	NR2E3	10002	HP:0001513	Obesity
OMIM:616188	EYS	346007	HP:0007663	Reduced visual acuity
OMIM:616188	EYS	346007	HP:0000483	Astigmatism
OMIM:616188	EYS	346007	HP:0000545	Myopia
OMIM:616188	EYS	346007	HP:0000505	Visual impairment
OMIM:616188	EYS	346007	HP:0000541	Retinal detachment
OMIM:616188	EYS	346007	HP:0001513	Obesity
OMIM:616188	MAK	4117	HP:0007663	Reduced visual acuity
OMIM:616188	MAK	4117	HP:0000483	Astigmatism
OMIM:616188	MAK	4117	HP:0000545	Myopia
OMIM:616188	MAK	4117	HP:0000505	Visual impairment
OMIM:616188	MAK	4117	HP:0000541	Retinal detachment
OMIM:616188	MAK	4117	HP:0001513	Obesity
OMIM:616188	SAG	6295	HP:0007663	Reduced visual acuity
OMIM:616188	SAG	6295	HP:0000483	Astigmatism
OMIM:616188	SAG	6295	HP:0000545	Myopia
OMIM:616188	SAG	6295	HP:0000505	Visual impairment
OMIM:616188	SAG	6295	HP:0000541	Retinal detachment
OMIM:616188	SAG	6295	HP:0001513	Obesity
OMIM:616188	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:616188	ABCA4	24	HP:0000483	Astigmatism
OMIM:616188	ABCA4	24	HP:0000545	Myopia
OMIM:616188	ABCA4	24	HP:0000505	Visual impairment
OMIM:616188	ABCA4	24	HP:0000541	Retinal detachment
OMIM:616188	ABCA4	24	HP:0001513	Obesity
OMIM:616188	PDE6A	5145	HP:0007663	Reduced visual acuity
OMIM:616188	PDE6A	5145	HP:0000483	Astigmatism
OMIM:616188	PDE6A	5145	HP:0000545	Myopia
OMIM:616188	PDE6A	5145	HP:0000505	Visual impairment
OMIM:616188	PDE6A	5145	HP:0000541	Retinal detachment
OMIM:616188	PDE6A	5145	HP:0001513	Obesity
OMIM:616188	PDE6G	5148	HP:0007663	Reduced visual acuity
OMIM:616188	PDE6G	5148	HP:0000483	Astigmatism
OMIM:616188	PDE6G	5148	HP:0000545	Myopia
OMIM:616188	PDE6G	5148	HP:0000505	Visual impairment
OMIM:616188	PDE6G	5148	HP:0000541	Retinal detachment
OMIM:616188	PDE6G	5148	HP:0001513	Obesity
OMIM:616188	IMPDH1	3614	HP:0007663	Reduced visual acuity
OMIM:616188	IMPDH1	3614	HP:0000483	Astigmatism
OMIM:616188	IMPDH1	3614	HP:0000545	Myopia
OMIM:616188	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:616188	IMPDH1	3614	HP:0000541	Retinal detachment
OMIM:616188	IMPDH1	3614	HP:0001513	Obesity
OMIM:616188	OFD1	8481	HP:0007663	Reduced visual acuity
OMIM:616188	OFD1	8481	HP:0000483	Astigmatism
OMIM:616188	OFD1	8481	HP:0000545	Myopia
OMIM:616188	OFD1	8481	HP:0000505	Visual impairment
OMIM:616188	OFD1	8481	HP:0000541	Retinal detachment
OMIM:616188	OFD1	8481	HP:0001513	Obesity
OMIM:616188	GUCA1B	2979	HP:0007663	Reduced visual acuity
OMIM:616188	GUCA1B	2979	HP:0000483	Astigmatism
OMIM:616188	GUCA1B	2979	HP:0000545	Myopia
OMIM:616188	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:616188	GUCA1B	2979	HP:0000541	Retinal detachment
OMIM:616188	GUCA1B	2979	HP:0001513	Obesity
OMIM:616188	NRL	4901	HP:0007663	Reduced visual acuity
OMIM:616188	NRL	4901	HP:0000483	Astigmatism
OMIM:616188	NRL	4901	HP:0000545	Myopia
OMIM:616188	NRL	4901	HP:0000505	Visual impairment
OMIM:616188	NRL	4901	HP:0000541	Retinal detachment
OMIM:616188	NRL	4901	HP:0001513	Obesity
OMIM:616188	PDE6B	5158	HP:0007663	Reduced visual acuity
OMIM:616188	PDE6B	5158	HP:0000483	Astigmatism
OMIM:616188	PDE6B	5158	HP:0000545	Myopia
OMIM:616188	PDE6B	5158	HP:0000505	Visual impairment
OMIM:616188	PDE6B	5158	HP:0000541	Retinal detachment
OMIM:616188	PDE6B	5158	HP:0001513	Obesity
OMIM:616188	KLHL7	55975	HP:0007663	Reduced visual acuity
OMIM:616188	KLHL7	55975	HP:0000483	Astigmatism
OMIM:616188	KLHL7	55975	HP:0000545	Myopia
OMIM:616188	KLHL7	55975	HP:0000505	Visual impairment
OMIM:616188	KLHL7	55975	HP:0000541	Retinal detachment
OMIM:616188	KLHL7	55975	HP:0001513	Obesity
OMIM:616188	PRPF4	9128	HP:0007663	Reduced visual acuity
OMIM:616188	PRPF4	9128	HP:0000483	Astigmatism
OMIM:616188	PRPF4	9128	HP:0000545	Myopia
OMIM:616188	PRPF4	9128	HP:0000505	Visual impairment
OMIM:616188	PRPF4	9128	HP:0000541	Retinal detachment
OMIM:616188	PRPF4	9128	HP:0001513	Obesity
OMIM:616188	PRPF3	9129	HP:0007663	Reduced visual acuity
OMIM:616188	PRPF3	9129	HP:0000483	Astigmatism
OMIM:616188	PRPF3	9129	HP:0000545	Myopia
OMIM:616188	PRPF3	9129	HP:0000505	Visual impairment
OMIM:616188	PRPF3	9129	HP:0000541	Retinal detachment
OMIM:616188	PRPF3	9129	HP:0001513	Obesity
OMIM:616188	FAM161A	84140	HP:0007663	Reduced visual acuity
OMIM:616188	FAM161A	84140	HP:0000483	Astigmatism
OMIM:616188	FAM161A	84140	HP:0000545	Myopia
OMIM:616188	FAM161A	84140	HP:0000505	Visual impairment
OMIM:616188	FAM161A	84140	HP:0000541	Retinal detachment
OMIM:616188	FAM161A	84140	HP:0001513	Obesity
OMIM:616188	IFT172	26160	HP:0007663	Reduced visual acuity
OMIM:616188	IFT172	26160	HP:0000483	Astigmatism
OMIM:616188	IFT172	26160	HP:0000545	Myopia
OMIM:616188	IFT172	26160	HP:0000505	Visual impairment
OMIM:616188	IFT172	26160	HP:0000541	Retinal detachment
OMIM:616188	IFT172	26160	HP:0001513	Obesity
OMIM:616188	KIZ	55857	HP:0007663	Reduced visual acuity
OMIM:616188	KIZ	55857	HP:0000483	Astigmatism
OMIM:616188	KIZ	55857	HP:0000545	Myopia
OMIM:616188	KIZ	55857	HP:0000505	Visual impairment
OMIM:616188	KIZ	55857	HP:0000541	Retinal detachment
OMIM:616188	KIZ	55857	HP:0001513	Obesity
OMIM:616188	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:616188	CDHR1	92211	HP:0000483	Astigmatism
OMIM:616188	CDHR1	92211	HP:0000545	Myopia
OMIM:616188	CDHR1	92211	HP:0000505	Visual impairment
OMIM:616188	CDHR1	92211	HP:0000541	Retinal detachment
OMIM:616188	CDHR1	92211	HP:0001513	Obesity
OMIM:616188	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:616188	ZNF408	79797	HP:0000483	Astigmatism
OMIM:616188	ZNF408	79797	HP:0000545	Myopia
OMIM:616188	ZNF408	79797	HP:0000505	Visual impairment
OMIM:616188	ZNF408	79797	HP:0000541	Retinal detachment
OMIM:616188	ZNF408	79797	HP:0001513	Obesity
OMIM:616188	RBP3	5949	HP:0007663	Reduced visual acuity
OMIM:616188	RBP3	5949	HP:0000483	Astigmatism
OMIM:616188	RBP3	5949	HP:0000545	Myopia
OMIM:616188	RBP3	5949	HP:0000505	Visual impairment
OMIM:616188	RBP3	5949	HP:0000541	Retinal detachment
OMIM:616188	RBP3	5949	HP:0001513	Obesity
OMIM:616188	HGSNAT	138050	HP:0007663	Reduced visual acuity
OMIM:616188	HGSNAT	138050	HP:0000483	Astigmatism
OMIM:616188	HGSNAT	138050	HP:0000545	Myopia
OMIM:616188	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:616188	HGSNAT	138050	HP:0000541	Retinal detachment
OMIM:616188	HGSNAT	138050	HP:0001513	Obesity
OMIM:616188	FSCN2	25794	HP:0007663	Reduced visual acuity
OMIM:616188	FSCN2	25794	HP:0000483	Astigmatism
OMIM:616188	FSCN2	25794	HP:0000545	Myopia
OMIM:616188	FSCN2	25794	HP:0000505	Visual impairment
OMIM:616188	FSCN2	25794	HP:0000541	Retinal detachment
OMIM:616188	FSCN2	25794	HP:0001513	Obesity
OMIM:616188	PRCD	768206	HP:0007663	Reduced visual acuity
OMIM:616188	PRCD	768206	HP:0000483	Astigmatism
OMIM:616188	PRCD	768206	HP:0000545	Myopia
OMIM:616188	PRCD	768206	HP:0000505	Visual impairment
OMIM:616188	PRCD	768206	HP:0000541	Retinal detachment
OMIM:616188	PRCD	768206	HP:0001513	Obesity
OMIM:616188	BBS2	583	HP:0007663	Reduced visual acuity
OMIM:616188	BBS2	583	HP:0000483	Astigmatism
OMIM:616188	BBS2	583	HP:0000545	Myopia
OMIM:616188	BBS2	583	HP:0000505	Visual impairment
OMIM:616188	BBS2	583	HP:0000541	Retinal detachment
OMIM:616188	BBS2	583	HP:0001513	Obesity
OMIM:616188	RDH12	145226	HP:0007663	Reduced visual acuity
OMIM:616188	RDH12	145226	HP:0000483	Astigmatism
OMIM:616188	RDH12	145226	HP:0000545	Myopia
OMIM:616188	RDH12	145226	HP:0000505	Visual impairment
OMIM:616188	RDH12	145226	HP:0000541	Retinal detachment
OMIM:616188	RDH12	145226	HP:0001513	Obesity
OMIM:616188	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:616188	PRPH2	5961	HP:0000483	Astigmatism
OMIM:616188	PRPH2	5961	HP:0000545	Myopia
OMIM:616188	PRPH2	5961	HP:0000505	Visual impairment
OMIM:616188	PRPH2	5961	HP:0000541	Retinal detachment
OMIM:616188	PRPH2	5961	HP:0001513	Obesity
OMIM:616188	DHDDS	79947	HP:0007663	Reduced visual acuity
OMIM:616188	DHDDS	79947	HP:0000483	Astigmatism
OMIM:616188	DHDDS	79947	HP:0000545	Myopia
OMIM:616188	DHDDS	79947	HP:0000505	Visual impairment
OMIM:616188	DHDDS	79947	HP:0000541	Retinal detachment
OMIM:616188	DHDDS	79947	HP:0001513	Obesity
OMIM:616188	ROM1	6094	HP:0007663	Reduced visual acuity
OMIM:616188	ROM1	6094	HP:0000483	Astigmatism
OMIM:616188	ROM1	6094	HP:0000545	Myopia
OMIM:616188	ROM1	6094	HP:0000505	Visual impairment
OMIM:616188	ROM1	6094	HP:0000541	Retinal detachment
OMIM:616188	ROM1	6094	HP:0001513	Obesity
OMIM:616188	C2ORF71	388939	HP:0007663	Reduced visual acuity
OMIM:616188	C2ORF71	388939	HP:0000483	Astigmatism
OMIM:616188	C2ORF71	388939	HP:0000545	Myopia
OMIM:616188	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:616188	C2ORF71	388939	HP:0000541	Retinal detachment
OMIM:616188	C2ORF71	388939	HP:0001513	Obesity
OMIM:616188	RP9	6100	HP:0007663	Reduced visual acuity
OMIM:616188	RP9	6100	HP:0000483	Astigmatism
OMIM:616188	RP9	6100	HP:0000545	Myopia
OMIM:616188	RP9	6100	HP:0000505	Visual impairment
OMIM:616188	RP9	6100	HP:0000541	Retinal detachment
OMIM:616188	RP9	6100	HP:0001513	Obesity
OMIM:616188	PRPF6	24148	HP:0007663	Reduced visual acuity
OMIM:616188	PRPF6	24148	HP:0000483	Astigmatism
OMIM:616188	PRPF6	24148	HP:0000545	Myopia
OMIM:616188	PRPF6	24148	HP:0000505	Visual impairment
OMIM:616188	PRPF6	24148	HP:0000541	Retinal detachment
OMIM:616188	PRPF6	24148	HP:0001513	Obesity
OMIM:616188	RP1	6101	HP:0007663	Reduced visual acuity
OMIM:616188	RP1	6101	HP:0000483	Astigmatism
OMIM:616188	RP1	6101	HP:0000545	Myopia
OMIM:616188	RP1	6101	HP:0000505	Visual impairment
OMIM:616188	RP1	6101	HP:0000541	Retinal detachment
OMIM:616188	RP1	6101	HP:0001513	Obesity
OMIM:616188	RP2	6102	HP:0007663	Reduced visual acuity
OMIM:616188	RP2	6102	HP:0000483	Astigmatism
OMIM:616188	RP2	6102	HP:0000545	Myopia
OMIM:616188	RP2	6102	HP:0000505	Visual impairment
OMIM:616188	RP2	6102	HP:0000541	Retinal detachment
OMIM:616188	RP2	6102	HP:0001513	Obesity
OMIM:616188	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:616188	RPGR	6103	HP:0000483	Astigmatism
OMIM:616188	RPGR	6103	HP:0000545	Myopia
OMIM:616188	RPGR	6103	HP:0000505	Visual impairment
OMIM:616188	RPGR	6103	HP:0000541	Retinal detachment
OMIM:616188	RPGR	6103	HP:0001513	Obesity
OMIM:616188	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:616188	SEMA4A	64218	HP:0000483	Astigmatism
OMIM:616188	SEMA4A	64218	HP:0000545	Myopia
OMIM:616188	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:616188	SEMA4A	64218	HP:0000541	Retinal detachment
OMIM:616188	SEMA4A	64218	HP:0001513	Obesity
OMIM:616188	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:616188	C8ORF37	157657	HP:0000483	Astigmatism
OMIM:616188	C8ORF37	157657	HP:0000545	Myopia
OMIM:616188	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:616188	C8ORF37	157657	HP:0000541	Retinal detachment
OMIM:616188	C8ORF37	157657	HP:0001513	Obesity
OMIM:616188	IDH3B	3420	HP:0007663	Reduced visual acuity
OMIM:616188	IDH3B	3420	HP:0000483	Astigmatism
OMIM:616188	IDH3B	3420	HP:0000545	Myopia
OMIM:616188	IDH3B	3420	HP:0000505	Visual impairment
OMIM:616188	IDH3B	3420	HP:0000541	Retinal detachment
OMIM:616188	IDH3B	3420	HP:0001513	Obesity
OMIM:616188	MERTK	10461	HP:0007663	Reduced visual acuity
OMIM:616188	MERTK	10461	HP:0000483	Astigmatism
OMIM:616188	MERTK	10461	HP:0000545	Myopia
OMIM:616188	MERTK	10461	HP:0000505	Visual impairment
OMIM:616188	MERTK	10461	HP:0000541	Retinal detachment
OMIM:616188	MERTK	10461	HP:0001513	Obesity
OMIM:616188	PRPF8	10594	HP:0007663	Reduced visual acuity
OMIM:616188	PRPF8	10594	HP:0000483	Astigmatism
OMIM:616188	PRPF8	10594	HP:0000545	Myopia
OMIM:616188	PRPF8	10594	HP:0000505	Visual impairment
OMIM:616188	PRPF8	10594	HP:0000541	Retinal detachment
OMIM:616188	PRPF8	10594	HP:0001513	Obesity
OMIM:616188	TOPORS	10210	HP:0007663	Reduced visual acuity
OMIM:616188	TOPORS	10210	HP:0000483	Astigmatism
OMIM:616188	TOPORS	10210	HP:0000545	Myopia
OMIM:616188	TOPORS	10210	HP:0000505	Visual impairment
OMIM:616188	TOPORS	10210	HP:0000541	Retinal detachment
OMIM:616188	TOPORS	10210	HP:0001513	Obesity
OMIM:616188	USH2A	7399	HP:0007663	Reduced visual acuity
OMIM:616188	USH2A	7399	HP:0000483	Astigmatism
OMIM:616188	USH2A	7399	HP:0000545	Myopia
OMIM:616188	USH2A	7399	HP:0000505	Visual impairment
OMIM:616188	USH2A	7399	HP:0000541	Retinal detachment
OMIM:616188	USH2A	7399	HP:0001513	Obesity
OMIM:616188	RPE65	6121	HP:0007663	Reduced visual acuity
OMIM:616188	RPE65	6121	HP:0000483	Astigmatism
OMIM:616188	RPE65	6121	HP:0000545	Myopia
OMIM:616188	RPE65	6121	HP:0000505	Visual impairment
OMIM:616188	RPE65	6121	HP:0000541	Retinal detachment
OMIM:616188	RPE65	6121	HP:0001513	Obesity
OMIM:616188	CLRN1	7401	HP:0007663	Reduced visual acuity
OMIM:616188	CLRN1	7401	HP:0000483	Astigmatism
OMIM:616188	CLRN1	7401	HP:0000545	Myopia
OMIM:616188	CLRN1	7401	HP:0000505	Visual impairment
OMIM:616188	CLRN1	7401	HP:0000541	Retinal detachment
OMIM:616188	CLRN1	7401	HP:0001513	Obesity
OMIM:616188	CNGB1	1258	HP:0007663	Reduced visual acuity
OMIM:616188	CNGB1	1258	HP:0000483	Astigmatism
OMIM:616188	CNGB1	1258	HP:0000545	Myopia
OMIM:616188	CNGB1	1258	HP:0000505	Visual impairment
OMIM:616188	CNGB1	1258	HP:0000541	Retinal detachment
OMIM:616188	CNGB1	1258	HP:0001513	Obesity
OMIM:616188	TUB	7275	HP:0007663	Reduced visual acuity
OMIM:616188	TUB	7275	HP:0000483	Astigmatism
OMIM:616188	TUB	7275	HP:0000545	Myopia
OMIM:616188	TUB	7275	HP:0000505	Visual impairment
OMIM:616188	TUB	7275	HP:0000541	Retinal detachment
OMIM:616188	TUB	7275	HP:0001513	Obesity
OMIM:616188	RGR	5995	HP:0007663	Reduced visual acuity
OMIM:616188	RGR	5995	HP:0000483	Astigmatism
OMIM:616188	RGR	5995	HP:0000545	Myopia
OMIM:616188	RGR	5995	HP:0000505	Visual impairment
OMIM:616188	RGR	5995	HP:0000541	Retinal detachment
OMIM:616188	RGR	5995	HP:0001513	Obesity
OMIM:616188	CNGA1	1259	HP:0007663	Reduced visual acuity
OMIM:616188	CNGA1	1259	HP:0000483	Astigmatism
OMIM:616188	CNGA1	1259	HP:0000545	Myopia
OMIM:616188	CNGA1	1259	HP:0000505	Visual impairment
OMIM:616188	CNGA1	1259	HP:0000541	Retinal detachment
OMIM:616188	CNGA1	1259	HP:0001513	Obesity
OMIM:616188	SNRNP200	23020	HP:0007663	Reduced visual acuity
OMIM:616188	SNRNP200	23020	HP:0000483	Astigmatism
OMIM:616188	SNRNP200	23020	HP:0000545	Myopia
OMIM:616188	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:616188	SNRNP200	23020	HP:0000541	Retinal detachment
OMIM:616188	SNRNP200	23020	HP:0001513	Obesity
OMIM:616188	SLC7A14	57709	HP:0007663	Reduced visual acuity
OMIM:616188	SLC7A14	57709	HP:0000483	Astigmatism
OMIM:616188	SLC7A14	57709	HP:0000545	Myopia
OMIM:616188	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:616188	SLC7A14	57709	HP:0000541	Retinal detachment
OMIM:616188	SLC7A14	57709	HP:0001513	Obesity
OMIM:616188	TULP1	7287	HP:0007663	Reduced visual acuity
OMIM:616188	TULP1	7287	HP:0000483	Astigmatism
OMIM:616188	TULP1	7287	HP:0000545	Myopia
OMIM:616188	TULP1	7287	HP:0000505	Visual impairment
OMIM:616188	TULP1	7287	HP:0000541	Retinal detachment
OMIM:616188	TULP1	7287	HP:0001513	Obesity
OMIM:616188	RHO	6010	HP:0007663	Reduced visual acuity
OMIM:616188	RHO	6010	HP:0000483	Astigmatism
OMIM:616188	RHO	6010	HP:0000545	Myopia
OMIM:616188	RHO	6010	HP:0000505	Visual impairment
OMIM:616188	RHO	6010	HP:0000541	Retinal detachment
OMIM:616188	RHO	6010	HP:0001513	Obesity
OMIM:616188	CA4	762	HP:0007663	Reduced visual acuity
OMIM:616188	CA4	762	HP:0000483	Astigmatism
OMIM:616188	CA4	762	HP:0000545	Myopia
OMIM:616188	CA4	762	HP:0000505	Visual impairment
OMIM:616188	CA4	762	HP:0000541	Retinal detachment
OMIM:616188	CA4	762	HP:0001513	Obesity
OMIM:616188	CRB1	23418	HP:0007663	Reduced visual acuity
OMIM:616188	CRB1	23418	HP:0000483	Astigmatism
OMIM:616188	CRB1	23418	HP:0000545	Myopia
OMIM:616188	CRB1	23418	HP:0000505	Visual impairment
OMIM:616188	CRB1	23418	HP:0000541	Retinal detachment
OMIM:616188	CRB1	23418	HP:0001513	Obesity
OMIM:616188	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:616188	IMPG2	50939	HP:0000483	Astigmatism
OMIM:616188	IMPG2	50939	HP:0000545	Myopia
OMIM:616188	IMPG2	50939	HP:0000505	Visual impairment
OMIM:616188	IMPG2	50939	HP:0000541	Retinal detachment
OMIM:616188	IMPG2	50939	HP:0001513	Obesity
OMIM:616188	ZNF513	130557	HP:0007663	Reduced visual acuity
OMIM:616188	ZNF513	130557	HP:0000483	Astigmatism
OMIM:616188	ZNF513	130557	HP:0000545	Myopia
OMIM:616188	ZNF513	130557	HP:0000505	Visual impairment
OMIM:616188	ZNF513	130557	HP:0000541	Retinal detachment
OMIM:616188	ZNF513	130557	HP:0001513	Obesity
OMIM:616188	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:616188	CRX	1406	HP:0000483	Astigmatism
OMIM:616188	CRX	1406	HP:0000545	Myopia
OMIM:616188	CRX	1406	HP:0000505	Visual impairment
OMIM:616188	CRX	1406	HP:0000541	Retinal detachment
OMIM:616188	CRX	1406	HP:0001513	Obesity
OMIM:614514	PROS1	5627	HP:0000618	Blindness
OMIM:614514	PROS1	5627	HP:0000007	Autosomal recessive inheritance
OMIM:614514	PROS1	5627	HP:0002204	Pulmonary embolism
OMIM:614514	PROS1	5627	HP:0004420	Arterial thrombosis
OMIM:609284	TPM2	7169	HP:0000006	Autosomal dominant inheritance
OMIM:609284	TPM2	7169	HP:0000007	Autosomal recessive inheritance
OMIM:609284	TPM2	7169	HP:0003458	EMG: myopathic abnormalities
OMIM:609284	TPM2	7169	HP:0001761	Pes cavus
OMIM:609284	TPM2	7169	HP:0000218	High palate
OMIM:609284	TPM2	7169	HP:0000276	Long face
OMIM:609284	TPM2	7169	HP:0000767	Pectus excavatum
OMIM:609284	TPM2	7169	HP:0003324	Generalized muscle weakness
OMIM:609284	TPM2	7169	HP:0003701	Proximal muscle weakness
OMIM:609284	TPM2	7169	HP:0000275	Narrow face
OMIM:609284	TPM2	7169	HP:0000467	Neck muscle weakness
OMIM:609284	TPM2	7169	HP:0009053	Distal lower limb muscle weakness
OMIM:609284	TPM2	7169	HP:0001270	Motor delay
OMIM:609284	TPM2	7169	HP:0002093	Respiratory insufficiency
OMIM:609284	TPM2	7169	HP:0003724	Shoulder girdle muscle atrophy
OMIM:609284	TPM2	7169	HP:0003621	Juvenile onset
OMIM:609284	TPM2	7169	HP:0002650	Scoliosis
OMIM:609284	TPM2	7169	HP:0001371	Flexion contracture
OMIM:609284	TPM2	7169	HP:0002015	Dysphagia
OMIM:609284	TPM2	7169	HP:0008944	Distal lower limb amyotrophy
OMIM:609284	TPM3	7170	HP:0000006	Autosomal dominant inheritance
OMIM:609284	TPM3	7170	HP:0000007	Autosomal recessive inheritance
OMIM:609284	TPM3	7170	HP:0003458	EMG: myopathic abnormalities
OMIM:609284	TPM3	7170	HP:0001761	Pes cavus
OMIM:609284	TPM3	7170	HP:0000218	High palate
OMIM:609284	TPM3	7170	HP:0000276	Long face
OMIM:609284	TPM3	7170	HP:0000767	Pectus excavatum
OMIM:609284	TPM3	7170	HP:0003324	Generalized muscle weakness
OMIM:609284	TPM3	7170	HP:0003701	Proximal muscle weakness
OMIM:609284	TPM3	7170	HP:0000275	Narrow face
OMIM:609284	TPM3	7170	HP:0000467	Neck muscle weakness
OMIM:609284	TPM3	7170	HP:0009053	Distal lower limb muscle weakness
OMIM:609284	TPM3	7170	HP:0001270	Motor delay
OMIM:609284	TPM3	7170	HP:0002093	Respiratory insufficiency
OMIM:609284	TPM3	7170	HP:0003724	Shoulder girdle muscle atrophy
OMIM:609284	TPM3	7170	HP:0003621	Juvenile onset
OMIM:609284	TPM3	7170	HP:0002650	Scoliosis
OMIM:609284	TPM3	7170	HP:0001371	Flexion contracture
OMIM:609284	TPM3	7170	HP:0002015	Dysphagia
OMIM:609284	TPM3	7170	HP:0008944	Distal lower limb amyotrophy
OMIM:610623	EPHA2	1969	HP:0000006	Autosomal dominant inheritance
OMIM:610623	EPHA2	1969	HP:0000518	Cataract
OMIM:610623	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:610623	CRYAB	1410	HP:0000518	Cataract
OMIM:610623	CHMP4B	128866	HP:0000006	Autosomal dominant inheritance
OMIM:610623	CHMP4B	128866	HP:0000518	Cataract
OMIM:610623	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:610623	CRYBA2	1412	HP:0000518	Cataract
OMIM:610623	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:610623	AGK	55750	HP:0000518	Cataract
OMIM:610623	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:610623	GCNT2	2651	HP:0000518	Cataract
OMIM:610623	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:610623	GJA3	2700	HP:0000518	Cataract
OMIM:610623	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:610623	MIP	4284	HP:0000518	Cataract
OMIM:610623	PITX3	5309	HP:0000006	Autosomal dominant inheritance
OMIM:610623	PITX3	5309	HP:0000518	Cataract
OMIM:616126	ISG15	9636	HP:0011274	Recurrent mycobacterial infections
OMIM:616126	ISG15	9636	HP:0000007	Autosomal recessive inheritance
OMIM:616126	ISG15	9636	HP:0002721	Immunodeficiency
OMIM:611603	TUBA1A	7846	HP:0001250	Seizures
OMIM:611603	TUBA1A	7846	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611603	TUBA1A	7846	HP:0000252	Microcephaly
OMIM:611603	TUBA1A	7846	HP:0001339	Lissencephaly
OMIM:611603	TUBA1A	7846	HP:0001274	Agenesis of corpus callosum
OMIM:611603	TUBA1A	7846	HP:0002365	Hypoplasia of the brainstem
OMIM:611603	TUBA1A	7846	HP:0000006	Autosomal dominant inheritance
OMIM:611603	TUBA1A	7846	HP:0001320	Cerebellar vermis hypoplasia
OMIM:611603	TUBA1A	7846	HP:0002510	Spastic tetraplegia
OMIM:611603	TUBA1A	7846	HP:0001252	Muscular hypotonia
OMIM:611603	TUBA1A	7846	HP:0001302	Pachygyria
OMIM:611603	TUBA1A	7846	HP:0002126	Polymicrogyria
OMIM:611603	TUBA1A	7846	HP:0001270	Motor delay
OMIM:611603	TUBA1A	7846	HP:0001251	Ataxia
OMIM:611603	TUBA1A	7846	HP:0002119	Ventriculomegaly
OMIM:611603	TUBA1A	7846	HP:0002282	Heterotopia
OMIM:611603	TUBA1A	7846	HP:0010864	Intellectual disability, severe
OMIM:614099	WDR19	57728	HP:0001388	Joint laxity
OMIM:614099	WDR19	57728	HP:0000347	Micrognathia
OMIM:614099	WDR19	57728	HP:0000256	Macrocephaly
OMIM:614099	WDR19	57728	HP:0000268	Dolichocephaly
OMIM:614099	WDR19	57728	HP:0000958	Dry skin
OMIM:614099	WDR19	57728	HP:0001799	Short nail
OMIM:614099	WDR19	57728	HP:0000968	Ectodermal dysplasia
OMIM:614099	WDR19	57728	HP:0000973	Cutis laxa
OMIM:614099	WDR19	57728	HP:0002007	Frontal bossing
OMIM:614099	WDR19	57728	HP:0002213	Fine hair
OMIM:614099	WDR19	57728	HP:0000687	Widely spaced teeth
OMIM:614099	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
OMIM:614099	WDR19	57728	HP:0004442	Sagittal craniosynostosis
OMIM:614099	WDR19	57728	HP:0001156	Brachydactyly syndrome
OMIM:614099	WDR19	57728	HP:0001159	Syndactyly
OMIM:614099	WDR19	57728	HP:0000232	Everted lower lip vermilion
OMIM:614099	WDR19	57728	HP:0008070	Sparse hair
OMIM:614099	WDR19	57728	HP:0000506	Telecanthus
OMIM:614099	WDR19	57728	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:614099	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:614099	WDR19	57728	HP:0001394	Cirrhosis
OMIM:614099	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:614099	WDR19	57728	HP:0000685	Hypoplasia of teeth
OMIM:614099	WDR19	57728	HP:0000774	Narrow chest
OMIM:614099	WDR19	57728	HP:0001821	Broad nail
OMIM:614099	WDR19	57728	HP:0004322	Short stature
OMIM:614099	IFT43	112752	HP:0001388	Joint laxity
OMIM:614099	IFT43	112752	HP:0000347	Micrognathia
OMIM:614099	IFT43	112752	HP:0000256	Macrocephaly
OMIM:614099	IFT43	112752	HP:0000268	Dolichocephaly
OMIM:614099	IFT43	112752	HP:0000958	Dry skin
OMIM:614099	IFT43	112752	HP:0001799	Short nail
OMIM:614099	IFT43	112752	HP:0000968	Ectodermal dysplasia
OMIM:614099	IFT43	112752	HP:0000973	Cutis laxa
OMIM:614099	IFT43	112752	HP:0002007	Frontal bossing
OMIM:614099	IFT43	112752	HP:0002213	Fine hair
OMIM:614099	IFT43	112752	HP:0000687	Widely spaced teeth
OMIM:614099	IFT43	112752	HP:0003774	Stage 5 chronic kidney disease
OMIM:614099	IFT43	112752	HP:0004442	Sagittal craniosynostosis
OMIM:614099	IFT43	112752	HP:0001156	Brachydactyly syndrome
OMIM:614099	IFT43	112752	HP:0001159	Syndactyly
OMIM:614099	IFT43	112752	HP:0000232	Everted lower lip vermilion
OMIM:614099	IFT43	112752	HP:0008070	Sparse hair
OMIM:614099	IFT43	112752	HP:0000506	Telecanthus
OMIM:614099	IFT43	112752	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:614099	IFT43	112752	HP:0000007	Autosomal recessive inheritance
OMIM:614099	IFT43	112752	HP:0001394	Cirrhosis
OMIM:614099	IFT43	112752	HP:0000090	Nephronophthisis
OMIM:614099	IFT43	112752	HP:0000685	Hypoplasia of teeth
OMIM:614099	IFT43	112752	HP:0000774	Narrow chest
OMIM:614099	IFT43	112752	HP:0001821	Broad nail
OMIM:614099	IFT43	112752	HP:0004322	Short stature
OMIM:614099	WDR35	57539	HP:0001388	Joint laxity
OMIM:614099	WDR35	57539	HP:0000347	Micrognathia
OMIM:614099	WDR35	57539	HP:0000256	Macrocephaly
OMIM:614099	WDR35	57539	HP:0000268	Dolichocephaly
OMIM:614099	WDR35	57539	HP:0000958	Dry skin
OMIM:614099	WDR35	57539	HP:0001799	Short nail
OMIM:614099	WDR35	57539	HP:0000968	Ectodermal dysplasia
OMIM:614099	WDR35	57539	HP:0000973	Cutis laxa
OMIM:614099	WDR35	57539	HP:0002007	Frontal bossing
OMIM:614099	WDR35	57539	HP:0002213	Fine hair
OMIM:614099	WDR35	57539	HP:0000687	Widely spaced teeth
OMIM:614099	WDR35	57539	HP:0003774	Stage 5 chronic kidney disease
OMIM:614099	WDR35	57539	HP:0004442	Sagittal craniosynostosis
OMIM:614099	WDR35	57539	HP:0001156	Brachydactyly syndrome
OMIM:614099	WDR35	57539	HP:0001159	Syndactyly
OMIM:614099	WDR35	57539	HP:0000232	Everted lower lip vermilion
OMIM:614099	WDR35	57539	HP:0008070	Sparse hair
OMIM:614099	WDR35	57539	HP:0000506	Telecanthus
OMIM:614099	WDR35	57539	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:614099	WDR35	57539	HP:0000007	Autosomal recessive inheritance
OMIM:614099	WDR35	57539	HP:0001394	Cirrhosis
OMIM:614099	WDR35	57539	HP:0000090	Nephronophthisis
OMIM:614099	WDR35	57539	HP:0000685	Hypoplasia of teeth
OMIM:614099	WDR35	57539	HP:0000774	Narrow chest
OMIM:614099	WDR35	57539	HP:0001821	Broad nail
OMIM:614099	WDR35	57539	HP:0004322	Short stature
OMIM:614099	IFT122	55764	HP:0001388	Joint laxity
OMIM:614099	IFT122	55764	HP:0000347	Micrognathia
OMIM:614099	IFT122	55764	HP:0000256	Macrocephaly
OMIM:614099	IFT122	55764	HP:0000268	Dolichocephaly
OMIM:614099	IFT122	55764	HP:0000958	Dry skin
OMIM:614099	IFT122	55764	HP:0001799	Short nail
OMIM:614099	IFT122	55764	HP:0000968	Ectodermal dysplasia
OMIM:614099	IFT122	55764	HP:0000973	Cutis laxa
OMIM:614099	IFT122	55764	HP:0002007	Frontal bossing
OMIM:614099	IFT122	55764	HP:0002213	Fine hair
OMIM:614099	IFT122	55764	HP:0000687	Widely spaced teeth
OMIM:614099	IFT122	55764	HP:0003774	Stage 5 chronic kidney disease
OMIM:614099	IFT122	55764	HP:0004442	Sagittal craniosynostosis
OMIM:614099	IFT122	55764	HP:0001156	Brachydactyly syndrome
OMIM:614099	IFT122	55764	HP:0001159	Syndactyly
OMIM:614099	IFT122	55764	HP:0000232	Everted lower lip vermilion
OMIM:614099	IFT122	55764	HP:0008070	Sparse hair
OMIM:614099	IFT122	55764	HP:0000506	Telecanthus
OMIM:614099	IFT122	55764	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:614099	IFT122	55764	HP:0000007	Autosomal recessive inheritance
OMIM:614099	IFT122	55764	HP:0001394	Cirrhosis
OMIM:614099	IFT122	55764	HP:0000090	Nephronophthisis
OMIM:614099	IFT122	55764	HP:0000685	Hypoplasia of teeth
OMIM:614099	IFT122	55764	HP:0000774	Narrow chest
OMIM:614099	IFT122	55764	HP:0001821	Broad nail
OMIM:614099	IFT122	55764	HP:0004322	Short stature
OMIM:611126	ACAD9	28976	HP:0001399	Hepatic failure
OMIM:611126	ACAD9	28976	HP:0001324	Muscle weakness
OMIM:611126	ACAD9	28976	HP:0000007	Autosomal recessive inheritance
OMIM:611126	ACAD9	28976	HP:0002910	Elevated hepatic transaminases
OMIM:611126	ACAD9	28976	HP:0003128	Lactic acidosis
OMIM:611126	ACAD9	28976	HP:0001252	Muscular hypotonia
OMIM:611126	ACAD9	28976	HP:0001943	Hypoglycemia
OMIM:611126	ACAD9	28976	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611126	ACAD9	28976	HP:0001297	Stroke
OMIM:611126	ACAD9	28976	HP:0002181	Cerebral edema
OMIM:611126	ACAD9	28976	HP:0001873	Thrombocytopenia
OMIM:611126	ACAD9	28976	HP:0003215	Dicarboxylic aciduria
OMIM:611126	ACAD9	28976	HP:0001635	Congestive heart failure
OMIM:611126	ACAD9	28976	HP:0001298	Encephalopathy
OMIM:611126	ACAD9	28976	HP:0003546	Exercise intolerance
OMIM:611126	ACAD9	28976	HP:0001644	Dilated cardiomyopathy
OMIM:300210	ZNF711	7552	HP:0001256	Intellectual disability, mild
OMIM:300210	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300210	IL1RAPL1	11141	HP:0001256	Intellectual disability, mild
OMIM:300210	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300210	ACSL4	2182	HP:0001256	Intellectual disability, mild
OMIM:300210	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300210	PAK3	5063	HP:0001256	Intellectual disability, mild
OMIM:300210	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300210	SYP	6855	HP:0001256	Intellectual disability, mild
OMIM:300210	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300210	FTSJ1	24140	HP:0001256	Intellectual disability, mild
OMIM:300210	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300210	DLG3	1741	HP:0001256	Intellectual disability, mild
OMIM:300210	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300210	PTCHD1	139411	HP:0001256	Intellectual disability, mild
OMIM:300210	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300210	UPF3B	65109	HP:0001256	Intellectual disability, mild
OMIM:300210	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300210	ZNF81	347344	HP:0001256	Intellectual disability, mild
OMIM:300210	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300210	RAB39B	116442	HP:0001256	Intellectual disability, mild
OMIM:300210	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300210	DMD	1756	HP:0001256	Intellectual disability, mild
OMIM:300210	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300210	MAGT1	84061	HP:0001256	Intellectual disability, mild
OMIM:300210	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300210	MID2	11043	HP:0001256	Intellectual disability, mild
OMIM:300210	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300210	GDI1	2664	HP:0001256	Intellectual disability, mild
OMIM:300210	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300210	ZNF41	7592	HP:0001256	Intellectual disability, mild
OMIM:300210	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300210	MECP2	4204	HP:0001256	Intellectual disability, mild
OMIM:300210	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300210	HCFC1	3054	HP:0001256	Intellectual disability, mild
OMIM:300210	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300210	USP9X	8239	HP:0001256	Intellectual disability, mild
OMIM:300210	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300210	MED12	9968	HP:0001256	Intellectual disability, mild
OMIM:300210	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300210	ZNF674	641339	HP:0001256	Intellectual disability, mild
OMIM:300210	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300210	ARHGEF6	9459	HP:0001256	Intellectual disability, mild
OMIM:300210	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300210	RPS6KA3	6197	HP:0001256	Intellectual disability, mild
OMIM:300210	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300210	IQSEC2	23096	HP:0001256	Intellectual disability, mild
OMIM:300210	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300210	AGTR2	186	HP:0001256	Intellectual disability, mild
OMIM:300210	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300210	ARX	170302	HP:0001256	Intellectual disability, mild
OMIM:300210	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300210	ALG13	79868	HP:0001256	Intellectual disability, mild
OMIM:300210	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300210	TSPAN7	7102	HP:0001256	Intellectual disability, mild
OMIM:300210	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:243310	ACTG1	71	HP:0001250	Seizures
OMIM:243310	ACTG1	71	HP:0008897	Postnatal growth retardation
OMIM:243310	ACTG1	71	HP:0001339	Lissencephaly
OMIM:243310	ACTG1	71	HP:0000470	Short neck
OMIM:243310	ACTG1	71	HP:0000243	Trigonocephaly
OMIM:243310	ACTG1	71	HP:0000252	Microcephaly
OMIM:243310	ACTG1	71	HP:0001650	Aortic valve stenosis
OMIM:243310	ACTG1	71	HP:0000508	Ptosis
OMIM:243310	ACTG1	71	HP:0003196	Short nose
OMIM:243310	ACTG1	71	HP:0002553	Highly arched eyebrow
OMIM:243310	ACTG1	71	HP:0000316	Hypertelorism
OMIM:243310	ACTG1	71	HP:0001274	Agenesis of corpus callosum
OMIM:243310	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:243310	ACTG1	71	HP:0000463	Anteverted nares
OMIM:243310	ACTG1	71	HP:0001249	Intellectual disability
OMIM:243310	ACTG1	71	HP:0000028	Cryptorchidism
OMIM:243310	ACTG1	71	HP:0000202	Oral cleft
OMIM:243310	ACTG1	71	HP:0000369	Low-set ears
OMIM:243310	ACTG1	71	HP:0000278	Retrognathia
OMIM:243310	ACTG1	71	HP:0000219	Thin upper lip vermilion
OMIM:243310	ACTG1	71	HP:0001263	Global developmental delay
OMIM:243310	ACTG1	71	HP:0000612	Iris coloboma
OMIM:243310	ACTG1	71	HP:0000007	Autosomal recessive inheritance
OMIM:243310	ACTG1	71	HP:0002162	Low posterior hairline
OMIM:243310	ACTG1	71	HP:0002119	Ventriculomegaly
OMIM:243310	ACTG1	71	HP:0001302	Pachygyria
OMIM:243310	ACTG1	71	HP:0000567	Chorioretinal coloboma
OMIM:243310	ACTG1	71	HP:0000054	Micropenis
OMIM:243310	ACTG1	71	HP:0004322	Short stature
OMIM:243310	ACTG1	71	HP:0000343	Long philtrum
OMIM:243310	ACTG1	71	HP:0000431	Wide nasal bridge
OMIM:243310	ACTG1	71	HP:0000307	Pointed chin
OMIM:243310	ACTG1	71	HP:0000396	Overfolded helix
OMIM:243310	ACTG1	71	HP:0001647	Bicuspid aortic valve
OMIM:243310	ACTG1	71	HP:0000568	Microphthalmia
OMIM:243310	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:243310	ACTG1	71	HP:0010066	Duplication of phalanx of hallux
OMIM:243310	ACTG1	71	HP:0001643	Patent ductus arteriosus
OMIM:243310	ACTG1	71	HP:0001252	Muscular hypotonia
OMIM:243310	ACTG1	71	HP:0000154	Wide mouth
OMIM:243310	ACTG1	71	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:243310	ACTB	60	HP:0001250	Seizures
OMIM:243310	ACTB	60	HP:0008897	Postnatal growth retardation
OMIM:243310	ACTB	60	HP:0001339	Lissencephaly
OMIM:243310	ACTB	60	HP:0000470	Short neck
OMIM:243310	ACTB	60	HP:0000243	Trigonocephaly
OMIM:243310	ACTB	60	HP:0000252	Microcephaly
OMIM:243310	ACTB	60	HP:0001650	Aortic valve stenosis
OMIM:243310	ACTB	60	HP:0000508	Ptosis
OMIM:243310	ACTB	60	HP:0003196	Short nose
OMIM:243310	ACTB	60	HP:0002553	Highly arched eyebrow
OMIM:243310	ACTB	60	HP:0000316	Hypertelorism
OMIM:243310	ACTB	60	HP:0001274	Agenesis of corpus callosum
OMIM:243310	ACTB	60	HP:0000407	Sensorineural hearing impairment
OMIM:243310	ACTB	60	HP:0000463	Anteverted nares
OMIM:243310	ACTB	60	HP:0001249	Intellectual disability
OMIM:243310	ACTB	60	HP:0000028	Cryptorchidism
OMIM:243310	ACTB	60	HP:0000202	Oral cleft
OMIM:243310	ACTB	60	HP:0000369	Low-set ears
OMIM:243310	ACTB	60	HP:0000278	Retrognathia
OMIM:243310	ACTB	60	HP:0000219	Thin upper lip vermilion
OMIM:243310	ACTB	60	HP:0001263	Global developmental delay
OMIM:243310	ACTB	60	HP:0000612	Iris coloboma
OMIM:243310	ACTB	60	HP:0000007	Autosomal recessive inheritance
OMIM:243310	ACTB	60	HP:0002162	Low posterior hairline
OMIM:243310	ACTB	60	HP:0002119	Ventriculomegaly
OMIM:243310	ACTB	60	HP:0001302	Pachygyria
OMIM:243310	ACTB	60	HP:0000567	Chorioretinal coloboma
OMIM:243310	ACTB	60	HP:0000054	Micropenis
OMIM:243310	ACTB	60	HP:0004322	Short stature
OMIM:243310	ACTB	60	HP:0000343	Long philtrum
OMIM:243310	ACTB	60	HP:0000431	Wide nasal bridge
OMIM:243310	ACTB	60	HP:0000307	Pointed chin
OMIM:243310	ACTB	60	HP:0000396	Overfolded helix
OMIM:243310	ACTB	60	HP:0001647	Bicuspid aortic valve
OMIM:243310	ACTB	60	HP:0000568	Microphthalmia
OMIM:243310	ACTB	60	HP:0000006	Autosomal dominant inheritance
OMIM:243310	ACTB	60	HP:0010066	Duplication of phalanx of hallux
OMIM:243310	ACTB	60	HP:0001643	Patent ductus arteriosus
OMIM:243310	ACTB	60	HP:0001252	Muscular hypotonia
OMIM:243310	ACTB	60	HP:0000154	Wide mouth
OMIM:243310	ACTB	60	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:601495	BLNK	29760	HP:0002014	Diarrhea
OMIM:601495	BLNK	29760	HP:0004432	Agammaglobulinemia
OMIM:601495	BLNK	29760	HP:0006532	Recurrent pneumonia
OMIM:601495	BLNK	29760	HP:0002743	Recurrent enteroviral infections
OMIM:601495	BLNK	29760	HP:0000007	Autosomal recessive inheritance
OMIM:601495	BLNK	29760	HP:0002110	Bronchiectasis
OMIM:601495	BLNK	29760	HP:0010976	B lymphocytopenia
OMIM:601495	BLNK	29760	HP:0000403	Recurrent otitis media
OMIM:601495	BLNK	29760	HP:0001875	Neutropenia
OMIM:601495	BLNK	29760	HP:0002718	Recurrent bacterial infections
OMIM:601495	BLNK	29760	HP:0001508	Failure to thrive
OMIM:601495	BLNK	29760	HP:0011108	Recurrent sinusitis
OMIM:601495	BLNK	29760	HP:0003593	Infantile onset
OMIM:601495	BLNK	29760	HP:0100280	Crohn's disease
OMIM:601495	BLNK	29760	HP:0000509	Conjunctivitis
OMIM:601495	TCF3	6929	HP:0002014	Diarrhea
OMIM:601495	TCF3	6929	HP:0004432	Agammaglobulinemia
OMIM:601495	TCF3	6929	HP:0006532	Recurrent pneumonia
OMIM:601495	TCF3	6929	HP:0002743	Recurrent enteroviral infections
OMIM:601495	TCF3	6929	HP:0000007	Autosomal recessive inheritance
OMIM:601495	TCF3	6929	HP:0002110	Bronchiectasis
OMIM:601495	TCF3	6929	HP:0010976	B lymphocytopenia
OMIM:601495	TCF3	6929	HP:0000403	Recurrent otitis media
OMIM:601495	TCF3	6929	HP:0001875	Neutropenia
OMIM:601495	TCF3	6929	HP:0002718	Recurrent bacterial infections
OMIM:601495	TCF3	6929	HP:0001508	Failure to thrive
OMIM:601495	TCF3	6929	HP:0011108	Recurrent sinusitis
OMIM:601495	TCF3	6929	HP:0003593	Infantile onset
OMIM:601495	TCF3	6929	HP:0100280	Crohn's disease
OMIM:601495	TCF3	6929	HP:0000509	Conjunctivitis
OMIM:601495	IGHM	3507	HP:0002014	Diarrhea
OMIM:601495	IGHM	3507	HP:0004432	Agammaglobulinemia
OMIM:601495	IGHM	3507	HP:0006532	Recurrent pneumonia
OMIM:601495	IGHM	3507	HP:0002743	Recurrent enteroviral infections
OMIM:601495	IGHM	3507	HP:0000007	Autosomal recessive inheritance
OMIM:601495	IGHM	3507	HP:0002110	Bronchiectasis
OMIM:601495	IGHM	3507	HP:0010976	B lymphocytopenia
OMIM:601495	IGHM	3507	HP:0000403	Recurrent otitis media
OMIM:601495	IGHM	3507	HP:0001875	Neutropenia
OMIM:601495	IGHM	3507	HP:0002718	Recurrent bacterial infections
OMIM:601495	IGHM	3507	HP:0001508	Failure to thrive
OMIM:601495	IGHM	3507	HP:0011108	Recurrent sinusitis
OMIM:601495	IGHM	3507	HP:0003593	Infantile onset
OMIM:601495	IGHM	3507	HP:0100280	Crohn's disease
OMIM:601495	IGHM	3507	HP:0000509	Conjunctivitis
OMIM:601495	LRRC8A	56262	HP:0002014	Diarrhea
OMIM:601495	LRRC8A	56262	HP:0004432	Agammaglobulinemia
OMIM:601495	LRRC8A	56262	HP:0006532	Recurrent pneumonia
OMIM:601495	LRRC8A	56262	HP:0002743	Recurrent enteroviral infections
OMIM:601495	LRRC8A	56262	HP:0000007	Autosomal recessive inheritance
OMIM:601495	LRRC8A	56262	HP:0002110	Bronchiectasis
OMIM:601495	LRRC8A	56262	HP:0010976	B lymphocytopenia
OMIM:601495	LRRC8A	56262	HP:0000403	Recurrent otitis media
OMIM:601495	LRRC8A	56262	HP:0001875	Neutropenia
OMIM:601495	LRRC8A	56262	HP:0002718	Recurrent bacterial infections
OMIM:601495	LRRC8A	56262	HP:0001508	Failure to thrive
OMIM:601495	LRRC8A	56262	HP:0011108	Recurrent sinusitis
OMIM:601495	LRRC8A	56262	HP:0003593	Infantile onset
OMIM:601495	LRRC8A	56262	HP:0100280	Crohn's disease
OMIM:601495	LRRC8A	56262	HP:0000509	Conjunctivitis
OMIM:601495	IGLL1	3543	HP:0002014	Diarrhea
OMIM:601495	IGLL1	3543	HP:0004432	Agammaglobulinemia
OMIM:601495	IGLL1	3543	HP:0006532	Recurrent pneumonia
OMIM:601495	IGLL1	3543	HP:0002743	Recurrent enteroviral infections
OMIM:601495	IGLL1	3543	HP:0000007	Autosomal recessive inheritance
OMIM:601495	IGLL1	3543	HP:0002110	Bronchiectasis
OMIM:601495	IGLL1	3543	HP:0010976	B lymphocytopenia
OMIM:601495	IGLL1	3543	HP:0000403	Recurrent otitis media
OMIM:601495	IGLL1	3543	HP:0001875	Neutropenia
OMIM:601495	IGLL1	3543	HP:0002718	Recurrent bacterial infections
OMIM:601495	IGLL1	3543	HP:0001508	Failure to thrive
OMIM:601495	IGLL1	3543	HP:0011108	Recurrent sinusitis
OMIM:601495	IGLL1	3543	HP:0003593	Infantile onset
OMIM:601495	IGLL1	3543	HP:0100280	Crohn's disease
OMIM:601495	IGLL1	3543	HP:0000509	Conjunctivitis
OMIM:601495	CD79A	973	HP:0002014	Diarrhea
OMIM:601495	CD79A	973	HP:0004432	Agammaglobulinemia
OMIM:601495	CD79A	973	HP:0006532	Recurrent pneumonia
OMIM:601495	CD79A	973	HP:0002743	Recurrent enteroviral infections
OMIM:601495	CD79A	973	HP:0000007	Autosomal recessive inheritance
OMIM:601495	CD79A	973	HP:0002110	Bronchiectasis
OMIM:601495	CD79A	973	HP:0010976	B lymphocytopenia
OMIM:601495	CD79A	973	HP:0000403	Recurrent otitis media
OMIM:601495	CD79A	973	HP:0001875	Neutropenia
OMIM:601495	CD79A	973	HP:0002718	Recurrent bacterial infections
OMIM:601495	CD79A	973	HP:0001508	Failure to thrive
OMIM:601495	CD79A	973	HP:0011108	Recurrent sinusitis
OMIM:601495	CD79A	973	HP:0003593	Infantile onset
OMIM:601495	CD79A	973	HP:0100280	Crohn's disease
OMIM:601495	CD79A	973	HP:0000509	Conjunctivitis
OMIM:601495	CD79B	974	HP:0002014	Diarrhea
OMIM:601495	CD79B	974	HP:0004432	Agammaglobulinemia
OMIM:601495	CD79B	974	HP:0006532	Recurrent pneumonia
OMIM:601495	CD79B	974	HP:0002743	Recurrent enteroviral infections
OMIM:601495	CD79B	974	HP:0000007	Autosomal recessive inheritance
OMIM:601495	CD79B	974	HP:0002110	Bronchiectasis
OMIM:601495	CD79B	974	HP:0010976	B lymphocytopenia
OMIM:601495	CD79B	974	HP:0000403	Recurrent otitis media
OMIM:601495	CD79B	974	HP:0001875	Neutropenia
OMIM:601495	CD79B	974	HP:0002718	Recurrent bacterial infections
OMIM:601495	CD79B	974	HP:0001508	Failure to thrive
OMIM:601495	CD79B	974	HP:0011108	Recurrent sinusitis
OMIM:601495	CD79B	974	HP:0003593	Infantile onset
OMIM:601495	CD79B	974	HP:0100280	Crohn's disease
OMIM:601495	CD79B	974	HP:0000509	Conjunctivitis
OMIM:601495	PIK3R1	5295	HP:0002014	Diarrhea
OMIM:601495	PIK3R1	5295	HP:0004432	Agammaglobulinemia
OMIM:601495	PIK3R1	5295	HP:0006532	Recurrent pneumonia
OMIM:601495	PIK3R1	5295	HP:0002743	Recurrent enteroviral infections
OMIM:601495	PIK3R1	5295	HP:0000007	Autosomal recessive inheritance
OMIM:601495	PIK3R1	5295	HP:0002110	Bronchiectasis
OMIM:601495	PIK3R1	5295	HP:0010976	B lymphocytopenia
OMIM:601495	PIK3R1	5295	HP:0000403	Recurrent otitis media
OMIM:601495	PIK3R1	5295	HP:0001875	Neutropenia
OMIM:601495	PIK3R1	5295	HP:0002718	Recurrent bacterial infections
OMIM:601495	PIK3R1	5295	HP:0001508	Failure to thrive
OMIM:601495	PIK3R1	5295	HP:0011108	Recurrent sinusitis
OMIM:601495	PIK3R1	5295	HP:0003593	Infantile onset
OMIM:601495	PIK3R1	5295	HP:0100280	Crohn's disease
OMIM:601495	PIK3R1	5295	HP:0000509	Conjunctivitis
OMIM:255320	RYR1	6261	HP:0003560	Muscular dystrophy
OMIM:255320	RYR1	6261	HP:0010628	Facial palsy
OMIM:255320	RYR1	6261	HP:0003324	Generalized muscle weakness
OMIM:255320	RYR1	6261	HP:0001284	Areflexia
OMIM:255320	RYR1	6261	HP:0002089	Pulmonary hypoplasia
OMIM:255320	RYR1	6261	HP:0000007	Autosomal recessive inheritance
OMIM:255320	RYR1	6261	HP:0002093	Respiratory insufficiency
OMIM:255320	RYR1	6261	HP:0001558	Decreased fetal movement
OMIM:255320	RYR1	6261	HP:0001270	Motor delay
OMIM:255320	RYR1	6261	HP:0001789	Hydrops fetalis
OMIM:255320	RYR1	6261	HP:0002205	Recurrent respiratory infections
OMIM:255320	RYR1	6261	HP:0003701	Proximal muscle weakness
OMIM:255320	RYR1	6261	HP:0000544	External ophthalmoplegia
OMIM:255320	RYR1	6261	HP:0008872	Feeding difficulties in infancy
OMIM:255320	RYR1	6261	HP:0009025	Increased connective tissue
OMIM:255320	RYR1	6261	HP:0000218	High palate
OMIM:255320	RYR1	6261	HP:0001561	Polyhydramnios
OMIM:255320	RYR1	6261	HP:0003202	Skeletal muscle atrophy
OMIM:255320	RYR1	6261	HP:0003623	Neonatal onset
OMIM:255320	RYR1	6261	HP:0002650	Scoliosis
OMIM:255320	RYR1	6261	HP:0000508	Ptosis
OMIM:255320	RYR1	6261	HP:0001319	Neonatal hypotonia
OMIM:615501	GPHN	10243	HP:0001276	Hypertonia
OMIM:615501	GPHN	10243	HP:0002421	Poor head control
OMIM:615501	GPHN	10243	HP:0008936	Muscular hypotonia of the trunk
OMIM:615501	GPHN	10243	HP:0002069	Generalized tonic-clonic seizures
OMIM:615501	GPHN	10243	HP:0011968	Feeding difficulties
OMIM:615501	GPHN	10243	HP:0002126	Polymicrogyria
OMIM:615501	GPHN	10243	HP:0001347	Hyperreflexia
OMIM:610532	FAM126A	84668	HP:0000519	Congenital cataract
OMIM:610532	FAM126A	84668	HP:0007210	Lower limb amyotrophy
OMIM:610532	FAM126A	84668	HP:0003593	Infantile onset
OMIM:610532	FAM126A	84668	HP:0002650	Scoliosis
OMIM:610532	FAM126A	84668	HP:0002415	Leukodystrophy
OMIM:610532	FAM126A	84668	HP:0001250	Seizures
OMIM:610532	FAM126A	84668	HP:0003487	Babinski sign
OMIM:610532	FAM126A	84668	HP:0001270	Motor delay
OMIM:610532	FAM126A	84668	HP:0000007	Autosomal recessive inheritance
OMIM:610532	FAM126A	84668	HP:0001260	Dysarthria
OMIM:610532	FAM126A	84668	HP:0001317	Abnormality of the cerebellum
OMIM:610532	FAM126A	84668	HP:0006957	Loss of ability to walk
OMIM:610532	FAM126A	84668	HP:0001271	Polyneuropathy
OMIM:610532	FAM126A	84668	HP:0008936	Muscular hypotonia of the trunk
OMIM:610532	FAM126A	84668	HP:0000518	Cataract
OMIM:610532	FAM126A	84668	HP:0003431	Decreased motor nerve conduction velocity
OMIM:610532	FAM126A	84668	HP:0100543	Cognitive impairment
OMIM:610532	FAM126A	84668	HP:0001249	Intellectual disability
OMIM:610532	FAM126A	84668	HP:0001347	Hyperreflexia
OMIM:610532	FAM126A	84668	HP:0003828	Variable expressivity
OMIM:610532	FAM126A	84668	HP:0007340	Lower limb muscle weakness
OMIM:612940	PYCR1	5831	HP:0000272	Malar flattening
OMIM:612940	PYCR1	5831	HP:0001263	Global developmental delay
OMIM:612940	PYCR1	5831	HP:0001274	Agenesis of corpus callosum
OMIM:612940	PYCR1	5831	HP:0000490	Deeply set eye
OMIM:612940	PYCR1	5831	HP:0000938	Osteopenia
OMIM:612940	PYCR1	5831	HP:0011220	Prominent forehead
OMIM:612940	PYCR1	5831	HP:0002007	Frontal bossing
OMIM:612940	PYCR1	5831	HP:0000337	Broad forehead
OMIM:612940	PYCR1	5831	HP:0011800	Hypoplasia of midface
OMIM:612940	PYCR1	5831	HP:0001582	Redundant skin
OMIM:612940	PYCR1	5831	HP:0000592	Blue sclerae
OMIM:612940	PYCR1	5831	HP:0000238	Hydrocephalus
OMIM:612940	PYCR1	5831	HP:0001511	Intrauterine growth retardation
OMIM:612940	PYCR1	5831	HP:0000007	Autosomal recessive inheritance
OMIM:612940	PYCR1	5831	HP:0000252	Microcephaly
OMIM:612940	PYCR1	5831	HP:0001374	Congenital hip dislocation
OMIM:612940	PYCR1	5831	HP:0000316	Hypertelorism
OMIM:612940	PYCR1	5831	HP:0000494	Downslanted palpebral fissures
OMIM:612940	PYCR1	5831	HP:0006487	Bowing of the long bones
OMIM:612940	PYCR1	5831	HP:0000239	Large fontanelles
OMIM:612940	PYCR1	5831	HP:0000411	Protruding ear
OMIM:612940	PYCR1	5831	HP:0000601	Hypotelorism
OMIM:612940	PYCR1	5831	HP:0000325	Triangular face
OMIM:612940	PYCR1	5831	HP:0001508	Failure to thrive
OMIM:612940	PYCR1	5831	HP:0001382	Joint hypermobility
OMIM:612940	PYCR1	5831	HP:0002020	Gastroesophageal reflux
OMIM:612940	PYCR1	5831	HP:0002650	Scoliosis
OMIM:300833	SRY	6736	HP:0001423	X-linked dominant inheritance
OMIM:300833	SRY	6736	HP:0012245	Sex reversal
OMIM:300833	SOX3	6658	HP:0001423	X-linked dominant inheritance
OMIM:300833	SOX3	6658	HP:0012245	Sex reversal
OMIM:300833	SOX9	6662	HP:0001423	X-linked dominant inheritance
OMIM:300833	SOX9	6662	HP:0012245	Sex reversal
OMIM:609260	MFN2	9927	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:609260	MFN2	9927	HP:0000365	Hearing impairment
OMIM:609260	MFN2	9927	HP:0002936	Distal sensory impairment
OMIM:609260	MFN2	9927	HP:0003677	Slow progression
OMIM:609260	MFN2	9927	HP:0001761	Pes cavus
OMIM:609260	MFN2	9927	HP:0001265	Hyporeflexia
OMIM:609260	MFN2	9927	HP:0001284	Areflexia
OMIM:609260	MFN2	9927	HP:0001257	Spasticity
OMIM:609260	MFN2	9927	HP:0001347	Hyperreflexia
OMIM:609260	MFN2	9927	HP:0003693	Distal amyotrophy
OMIM:609260	MFN2	9927	HP:0000648	Optic atrophy
OMIM:609260	MFN2	9927	HP:0003829	Incomplete penetrance
OMIM:609260	MFN2	9927	HP:0000006	Autosomal dominant inheritance
OMIM:609260	MFN2	9927	HP:0002460	Distal muscle weakness
OMIM:609260	MFN2	9927	HP:0003376	Steppage gait
OMIM:609260	MFN2	9927	HP:0003383	Onion bulb formation
OMIM:609260	MFN2	9927	HP:0002650	Scoliosis
OMIM:609260	MFN2	9927	HP:0009027	Foot dorsiflexor weakness
OMIM:609260	MFN2	9927	HP:0001337	Tremor
OMIM:609260	MFN2	9927	HP:0003487	Babinski sign
OMIM:609260	MFN2	9927	HP:0001268	Mental deterioration
OMIM:609260	MFN2	9927	HP:0003431	Decreased motor nerve conduction velocity
OMIM:609260	MFN2	9927	HP:0000007	Autosomal recessive inheritance
OMIM:609260	MFN2	9927	HP:0012531	Pain
OMIM:609260	MFN2	9927	HP:0003828	Variable expressivity
OMIM:609260	MFN2	9927	HP:0001765	Hammertoe
ORPHANET:2623	ADAMTSL2	9719	HP:0000388	Otitis media
ORPHANET:2623	ADAMTSL2	9719	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:2623	ADAMTSL2	9719	HP:0001608	Abnormality of the voice
ORPHANET:2623	ADAMTSL2	9719	HP:0002777	Tracheal stenosis
ORPHANET:2623	ADAMTSL2	9719	HP:0001156	Brachydactyly syndrome
ORPHANET:2623	ADAMTSL2	9719	HP:0001831	Short toe
ORPHANET:2623	ADAMTSL2	9719	HP:0002750	Delayed skeletal maturation
ORPHANET:2623	ADAMTSL2	9719	HP:0001718	Mitral stenosis
ORPHANET:2623	ADAMTSL2	9719	HP:0000233	Thin vermilion border
ORPHANET:2623	ADAMTSL2	9719	HP:0000581	Blepharophimosis
ORPHANET:2623	ADAMTSL2	9719	HP:0000343	Long philtrum
ORPHANET:2623	ADAMTSL2	9719	HP:0100830	Round ear
ORPHANET:2623	ADAMTSL2	9719	HP:0002823	Abnormality of the femur
ORPHANET:2623	ADAMTSL2	9719	HP:0000293	Full cheeks
ORPHANET:2623	ADAMTSL2	9719	HP:0003196	Short nose
ORPHANET:2623	ADAMTSL2	9719	HP:0001511	Intrauterine growth retardation
ORPHANET:2623	ADAMTSL2	9719	HP:0000926	Platyspondyly
ORPHANET:2623	ADAMTSL2	9719	HP:0100543	Cognitive impairment
ORPHANET:2623	ADAMTSL2	9719	HP:0000365	Hearing impairment
ORPHANET:2623	ADAMTSL2	9719	HP:0002205	Recurrent respiratory infections
ORPHANET:2623	ADAMTSL2	9719	HP:0004322	Short stature
ORPHANET:2623	ADAMTSL2	9719	HP:0000316	Hypertelorism
ORPHANET:2623	ADAMTSL2	9719	HP:0001600	Abnormality of the larynx
ORPHANET:2623	ADAMTSL2	9719	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:2623	ADAMTSL2	9719	HP:0002093	Respiratory insufficiency
ORPHANET:2623	ADAMTSL2	9719	HP:0002240	Hepatomegaly
ORPHANET:2623	ADAMTSL2	9719	HP:0010579	Cone-shaped epiphysis
ORPHANET:2623	ADAMTSL2	9719	HP:0002104	Apnea
ORPHANET:2623	ADAMTSL2	9719	HP:0001646	Abnormality of the aortic valve
ORPHANET:2623	ADAMTSL2	9719	HP:0001072	Thickened skin
ORPHANET:2623	ADAMTSL2	9719	HP:0001376	Limitation of joint mobility
ORPHANET:2623	ADAMTSL2	9719	HP:0002983	Micromelia
ORPHANET:2623	ADAMTSL2	9719	HP:0000311	Round face
ORPHANET:2623	ADAMTSL2	9719	HP:0000463	Anteverted nares
ORPHANET:2623	ADAMTSL2	9719	HP:0001631	Atria septal defect
ORPHANET:2623	FBN1	2200	HP:0000388	Otitis media
ORPHANET:2623	FBN1	2200	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:2623	FBN1	2200	HP:0001608	Abnormality of the voice
ORPHANET:2623	FBN1	2200	HP:0002777	Tracheal stenosis
ORPHANET:2623	FBN1	2200	HP:0001156	Brachydactyly syndrome
ORPHANET:2623	FBN1	2200	HP:0001831	Short toe
ORPHANET:2623	FBN1	2200	HP:0002750	Delayed skeletal maturation
ORPHANET:2623	FBN1	2200	HP:0001718	Mitral stenosis
ORPHANET:2623	FBN1	2200	HP:0000233	Thin vermilion border
ORPHANET:2623	FBN1	2200	HP:0000581	Blepharophimosis
ORPHANET:2623	FBN1	2200	HP:0000343	Long philtrum
ORPHANET:2623	FBN1	2200	HP:0100830	Round ear
ORPHANET:2623	FBN1	2200	HP:0002823	Abnormality of the femur
ORPHANET:2623	FBN1	2200	HP:0000293	Full cheeks
ORPHANET:2623	FBN1	2200	HP:0003196	Short nose
ORPHANET:2623	FBN1	2200	HP:0001511	Intrauterine growth retardation
ORPHANET:2623	FBN1	2200	HP:0000926	Platyspondyly
ORPHANET:2623	FBN1	2200	HP:0100543	Cognitive impairment
ORPHANET:2623	FBN1	2200	HP:0000365	Hearing impairment
ORPHANET:2623	FBN1	2200	HP:0002205	Recurrent respiratory infections
ORPHANET:2623	FBN1	2200	HP:0004322	Short stature
ORPHANET:2623	FBN1	2200	HP:0000316	Hypertelorism
ORPHANET:2623	FBN1	2200	HP:0001600	Abnormality of the larynx
ORPHANET:2623	FBN1	2200	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:2623	FBN1	2200	HP:0002093	Respiratory insufficiency
ORPHANET:2623	FBN1	2200	HP:0002240	Hepatomegaly
ORPHANET:2623	FBN1	2200	HP:0010579	Cone-shaped epiphysis
ORPHANET:2623	FBN1	2200	HP:0002104	Apnea
ORPHANET:2623	FBN1	2200	HP:0001646	Abnormality of the aortic valve
ORPHANET:2623	FBN1	2200	HP:0001072	Thickened skin
ORPHANET:2623	FBN1	2200	HP:0001376	Limitation of joint mobility
ORPHANET:2623	FBN1	2200	HP:0002983	Micromelia
ORPHANET:2623	FBN1	2200	HP:0000311	Round face
ORPHANET:2623	FBN1	2200	HP:0000463	Anteverted nares
ORPHANET:2623	FBN1	2200	HP:0001631	Atria septal defect
OMIM:125400	DSPP	1834	HP:0000006	Autosomal dominant inheritance
OMIM:125400	DSPP	1834	HP:0000691	Microdontia
OMIM:125400	DSPP	1834	HP:0000007	Autosomal recessive inheritance
OMIM:125400	DSPP	1834	HP:0000679	Taurodontia
OMIM:125400	SMOC2	64094	HP:0000006	Autosomal dominant inheritance
OMIM:125400	SMOC2	64094	HP:0000691	Microdontia
OMIM:125400	SMOC2	64094	HP:0000007	Autosomal recessive inheritance
OMIM:125400	SMOC2	64094	HP:0000679	Taurodontia
OMIM:304700	TIMM8A	1678	HP:0001260	Dysarthria
OMIM:304700	TIMM8A	1678	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:304700	TIMM8A	1678	HP:0001268	Mental deterioration
OMIM:304700	TIMM8A	1678	HP:0000545	Myopia
OMIM:304700	TIMM8A	1678	HP:0011463	Childhood onset
OMIM:304700	TIMM8A	1678	HP:0002533	Abnormal posturing
OMIM:304700	TIMM8A	1678	HP:0001332	Dystonia
OMIM:304700	TIMM8A	1678	HP:0000512	Abnormal electroretinogram
OMIM:304700	TIMM8A	1678	HP:0001419	X-linked recessive inheritance
OMIM:304700	TIMM8A	1678	HP:0002015	Dysphagia
OMIM:304700	TIMM8A	1678	HP:0100704	Cortical visual impairment
OMIM:304700	TIMM8A	1678	HP:0001133	Constriction of peripheral visual field
OMIM:304700	TIMM8A	1678	HP:0000408	Progressive sensorineural hearing impairment
OMIM:304700	TIMM8A	1678	HP:0007663	Reduced visual acuity
OMIM:304700	TIMM8A	1678	HP:0001347	Hyperreflexia
OMIM:304700	TIMM8A	1678	HP:0000505	Visual impairment
OMIM:304700	TIMM8A	1678	HP:0001337	Tremor
OMIM:304700	TIMM8A	1678	HP:0001257	Spasticity
OMIM:304700	TIMM8A	1678	HP:0002659	Increased susceptibility to fractures
OMIM:304700	TIMM8A	1678	HP:0000613	Photophobia
OMIM:300802	ZNF711	7552	HP:0001250	Seizures
OMIM:300802	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300802	ZNF711	7552	HP:0001423	X-linked dominant inheritance
OMIM:300802	IL1RAPL1	11141	HP:0001250	Seizures
OMIM:300802	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300802	IL1RAPL1	11141	HP:0001423	X-linked dominant inheritance
OMIM:300802	ACSL4	2182	HP:0001250	Seizures
OMIM:300802	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300802	ACSL4	2182	HP:0001423	X-linked dominant inheritance
OMIM:300802	SYP	6855	HP:0001250	Seizures
OMIM:300802	SYP	6855	HP:0001249	Intellectual disability
OMIM:300802	SYP	6855	HP:0001423	X-linked dominant inheritance
OMIM:300802	PAK3	5063	HP:0001250	Seizures
OMIM:300802	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300802	PAK3	5063	HP:0001423	X-linked dominant inheritance
OMIM:300802	FTSJ1	24140	HP:0001250	Seizures
OMIM:300802	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300802	FTSJ1	24140	HP:0001423	X-linked dominant inheritance
OMIM:300802	DLG3	1741	HP:0001250	Seizures
OMIM:300802	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300802	DLG3	1741	HP:0001423	X-linked dominant inheritance
OMIM:300802	PTCHD1	139411	HP:0001250	Seizures
OMIM:300802	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300802	PTCHD1	139411	HP:0001423	X-linked dominant inheritance
OMIM:300802	UPF3B	65109	HP:0001250	Seizures
OMIM:300802	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300802	UPF3B	65109	HP:0001423	X-linked dominant inheritance
OMIM:300802	ZNF81	347344	HP:0001250	Seizures
OMIM:300802	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300802	ZNF81	347344	HP:0001423	X-linked dominant inheritance
OMIM:300802	RAB39B	116442	HP:0001250	Seizures
OMIM:300802	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300802	RAB39B	116442	HP:0001423	X-linked dominant inheritance
OMIM:300802	DMD	1756	HP:0001250	Seizures
OMIM:300802	DMD	1756	HP:0001249	Intellectual disability
OMIM:300802	DMD	1756	HP:0001423	X-linked dominant inheritance
OMIM:300802	MAGT1	84061	HP:0001250	Seizures
OMIM:300802	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300802	MAGT1	84061	HP:0001423	X-linked dominant inheritance
OMIM:300802	MID2	11043	HP:0001250	Seizures
OMIM:300802	MID2	11043	HP:0001249	Intellectual disability
OMIM:300802	MID2	11043	HP:0001423	X-linked dominant inheritance
OMIM:300802	GDI1	2664	HP:0001250	Seizures
OMIM:300802	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300802	GDI1	2664	HP:0001423	X-linked dominant inheritance
OMIM:300802	ZNF41	7592	HP:0001250	Seizures
OMIM:300802	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300802	ZNF41	7592	HP:0001423	X-linked dominant inheritance
OMIM:300802	MECP2	4204	HP:0001250	Seizures
OMIM:300802	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300802	MECP2	4204	HP:0001423	X-linked dominant inheritance
OMIM:300802	HCFC1	3054	HP:0001250	Seizures
OMIM:300802	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300802	HCFC1	3054	HP:0001423	X-linked dominant inheritance
OMIM:300802	USP9X	8239	HP:0001250	Seizures
OMIM:300802	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300802	USP9X	8239	HP:0001423	X-linked dominant inheritance
OMIM:300802	MED12	9968	HP:0001250	Seizures
OMIM:300802	MED12	9968	HP:0001249	Intellectual disability
OMIM:300802	MED12	9968	HP:0001423	X-linked dominant inheritance
OMIM:300802	ZNF674	641339	HP:0001250	Seizures
OMIM:300802	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300802	ZNF674	641339	HP:0001423	X-linked dominant inheritance
OMIM:300802	ARHGEF6	9459	HP:0001250	Seizures
OMIM:300802	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300802	ARHGEF6	9459	HP:0001423	X-linked dominant inheritance
OMIM:300802	RPS6KA3	6197	HP:0001250	Seizures
OMIM:300802	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300802	RPS6KA3	6197	HP:0001423	X-linked dominant inheritance
OMIM:300802	IQSEC2	23096	HP:0001250	Seizures
OMIM:300802	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300802	IQSEC2	23096	HP:0001423	X-linked dominant inheritance
OMIM:300802	AGTR2	186	HP:0001250	Seizures
OMIM:300802	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300802	AGTR2	186	HP:0001423	X-linked dominant inheritance
OMIM:300802	ARX	170302	HP:0001250	Seizures
OMIM:300802	ARX	170302	HP:0001249	Intellectual disability
OMIM:300802	ARX	170302	HP:0001423	X-linked dominant inheritance
OMIM:300802	ALG13	79868	HP:0001250	Seizures
OMIM:300802	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300802	ALG13	79868	HP:0001423	X-linked dominant inheritance
OMIM:300802	TSPAN7	7102	HP:0001250	Seizures
OMIM:300802	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300802	TSPAN7	7102	HP:0001423	X-linked dominant inheritance
OMIM:614576	COG6	57511	HP:0001250	Seizures
OMIM:614576	COG6	57511	HP:0002037	Inflammation of the large intestine
OMIM:614576	COG6	57511	HP:0002240	Hepatomegaly
OMIM:614576	COG6	57511	HP:0005435	Impaired T cell function
OMIM:614576	COG6	57511	HP:0000252	Microcephaly
OMIM:614576	COG6	57511	HP:0100259	Postaxial polydactyly
OMIM:614576	COG6	57511	HP:0002719	Recurrent infections
OMIM:614576	COG6	57511	HP:0008936	Muscular hypotonia of the trunk
OMIM:614576	COG6	57511	HP:0002910	Elevated hepatic transaminases
OMIM:614576	COG6	57511	HP:0000278	Retrognathia
OMIM:614576	COG6	57511	HP:0003577	Congenital onset
OMIM:614576	COG6	57511	HP:0001508	Failure to thrive
OMIM:614576	COG6	57511	HP:0001522	Death in infancy
OMIM:614576	COG6	57511	HP:0000007	Autosomal recessive inheritance
OMIM:614576	COG6	57511	HP:0001263	Global developmental delay
OMIM:614576	COG6	57511	HP:0004313	Decreased antibody level in blood
OMIM:614576	COG6	57511	HP:0002028	Chronic diarrhea
OMIM:104200	COL4A3	1285	HP:0000093	Proteinuria
OMIM:104200	COL4A3	1285	HP:0000100	Nephrotic syndrome
OMIM:104200	COL4A3	1285	HP:0000545	Myopia
OMIM:104200	COL4A3	1285	HP:0002157	Azotemia
OMIM:104200	COL4A3	1285	HP:0000006	Autosomal dominant inheritance
OMIM:104200	COL4A3	1285	HP:0000790	Hematuria
OMIM:104200	COL4A3	1285	HP:0002148	Hypophosphatemia
OMIM:104200	COL4A3	1285	HP:0003676	Progressive
OMIM:104200	COL4A3	1285	HP:0000407	Sensorineural hearing impairment
OMIM:104200	COL4A3	1285	HP:0000822	Hypertension
OMIM:104200	COL4A3	1285	HP:0003774	Stage 5 chronic kidney disease
OMIM:104200	COL4A3	1285	HP:0000099	Glomerulonephritis
OMIM:104200	COL4A3	1285	HP:0000121	Nephrocalcinosis
OMIM:104200	COL4A4	1286	HP:0000093	Proteinuria
OMIM:104200	COL4A4	1286	HP:0000100	Nephrotic syndrome
OMIM:104200	COL4A4	1286	HP:0000545	Myopia
OMIM:104200	COL4A4	1286	HP:0002157	Azotemia
OMIM:104200	COL4A4	1286	HP:0000006	Autosomal dominant inheritance
OMIM:104200	COL4A4	1286	HP:0000790	Hematuria
OMIM:104200	COL4A4	1286	HP:0002148	Hypophosphatemia
OMIM:104200	COL4A4	1286	HP:0003676	Progressive
OMIM:104200	COL4A4	1286	HP:0000407	Sensorineural hearing impairment
OMIM:104200	COL4A4	1286	HP:0000822	Hypertension
OMIM:104200	COL4A4	1286	HP:0003774	Stage 5 chronic kidney disease
OMIM:104200	COL4A4	1286	HP:0000099	Glomerulonephritis
OMIM:104200	COL4A4	1286	HP:0000121	Nephrocalcinosis
OMIM:180104	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:180104	RLBP1	6017	HP:0007401	Macular atrophy
OMIM:180104	RLBP1	6017	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	RLBP1	6017	HP:0040049	Macular edema
OMIM:180104	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	RLBP1	6017	HP:0000518	Cataract
OMIM:180104	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:180104	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:180104	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:180104	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:180104	SPATA7	55812	HP:0007401	Macular atrophy
OMIM:180104	SPATA7	55812	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	SPATA7	55812	HP:0040049	Macular edema
OMIM:180104	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	SPATA7	55812	HP:0000518	Cataract
OMIM:180104	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:180104	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:180104	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:180104	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:180104	ARL6	84100	HP:0007401	Macular atrophy
OMIM:180104	ARL6	84100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	ARL6	84100	HP:0040049	Macular edema
OMIM:180104	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	ARL6	84100	HP:0000518	Cataract
OMIM:180104	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:180104	ARL6	84100	HP:0000662	Nyctalopia
OMIM:180104	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:180104	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:180104	CERKL	375298	HP:0007401	Macular atrophy
OMIM:180104	CERKL	375298	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	CERKL	375298	HP:0040049	Macular edema
OMIM:180104	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	CERKL	375298	HP:0000518	Cataract
OMIM:180104	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:180104	CERKL	375298	HP:0000662	Nyctalopia
OMIM:180104	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:180104	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:180104	PRPF31	26121	HP:0007401	Macular atrophy
OMIM:180104	PRPF31	26121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	PRPF31	26121	HP:0040049	Macular edema
OMIM:180104	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	PRPF31	26121	HP:0000518	Cataract
OMIM:180104	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:180104	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:180104	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:180104	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:180104	TTC8	123016	HP:0007401	Macular atrophy
OMIM:180104	TTC8	123016	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	TTC8	123016	HP:0040049	Macular edema
OMIM:180104	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	TTC8	123016	HP:0000518	Cataract
OMIM:180104	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:180104	TTC8	123016	HP:0000662	Nyctalopia
OMIM:180104	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:180104	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:180104	PROM1	8842	HP:0007401	Macular atrophy
OMIM:180104	PROM1	8842	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	PROM1	8842	HP:0040049	Macular edema
OMIM:180104	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	PROM1	8842	HP:0000518	Cataract
OMIM:180104	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:180104	PROM1	8842	HP:0000662	Nyctalopia
OMIM:180104	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:180104	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:180104	LRAT	9227	HP:0007401	Macular atrophy
OMIM:180104	LRAT	9227	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	LRAT	9227	HP:0040049	Macular edema
OMIM:180104	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	LRAT	9227	HP:0000518	Cataract
OMIM:180104	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:180104	LRAT	9227	HP:0000662	Nyctalopia
OMIM:180104	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:180104	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:180104	IFT140	9742	HP:0007401	Macular atrophy
OMIM:180104	IFT140	9742	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	IFT140	9742	HP:0040049	Macular edema
OMIM:180104	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	IFT140	9742	HP:0000518	Cataract
OMIM:180104	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:180104	IFT140	9742	HP:0000662	Nyctalopia
OMIM:180104	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:180104	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:180104	BEST1	7439	HP:0007401	Macular atrophy
OMIM:180104	BEST1	7439	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	BEST1	7439	HP:0040049	Macular edema
OMIM:180104	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	BEST1	7439	HP:0000518	Cataract
OMIM:180104	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:180104	BEST1	7439	HP:0000662	Nyctalopia
OMIM:180104	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:180104	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:180104	NEK2	4751	HP:0007401	Macular atrophy
OMIM:180104	NEK2	4751	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	NEK2	4751	HP:0040049	Macular edema
OMIM:180104	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	NEK2	4751	HP:0000518	Cataract
OMIM:180104	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:180104	NEK2	4751	HP:0000662	Nyctalopia
OMIM:180104	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:180104	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:180104	ARL2BP	23568	HP:0007401	Macular atrophy
OMIM:180104	ARL2BP	23568	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	ARL2BP	23568	HP:0040049	Macular edema
OMIM:180104	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	ARL2BP	23568	HP:0000518	Cataract
OMIM:180104	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:180104	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:180104	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:180104	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:180104	NR2E3	10002	HP:0007401	Macular atrophy
OMIM:180104	NR2E3	10002	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	NR2E3	10002	HP:0040049	Macular edema
OMIM:180104	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	NR2E3	10002	HP:0000518	Cataract
OMIM:180104	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:180104	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:180104	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:180104	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:180104	EYS	346007	HP:0007401	Macular atrophy
OMIM:180104	EYS	346007	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	EYS	346007	HP:0040049	Macular edema
OMIM:180104	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	EYS	346007	HP:0000518	Cataract
OMIM:180104	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:180104	EYS	346007	HP:0000662	Nyctalopia
OMIM:180104	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:180104	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:180104	MAK	4117	HP:0007401	Macular atrophy
OMIM:180104	MAK	4117	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	MAK	4117	HP:0040049	Macular edema
OMIM:180104	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	MAK	4117	HP:0000518	Cataract
OMIM:180104	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:180104	MAK	4117	HP:0000662	Nyctalopia
OMIM:180104	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:180104	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:180104	SAG	6295	HP:0007401	Macular atrophy
OMIM:180104	SAG	6295	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	SAG	6295	HP:0040049	Macular edema
OMIM:180104	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	SAG	6295	HP:0000518	Cataract
OMIM:180104	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:180104	SAG	6295	HP:0000662	Nyctalopia
OMIM:180104	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:180104	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:180104	ABCA4	24	HP:0007401	Macular atrophy
OMIM:180104	ABCA4	24	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	ABCA4	24	HP:0040049	Macular edema
OMIM:180104	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	ABCA4	24	HP:0000518	Cataract
OMIM:180104	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:180104	ABCA4	24	HP:0000662	Nyctalopia
OMIM:180104	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:180104	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:180104	PDE6A	5145	HP:0007401	Macular atrophy
OMIM:180104	PDE6A	5145	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	PDE6A	5145	HP:0040049	Macular edema
OMIM:180104	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	PDE6A	5145	HP:0000518	Cataract
OMIM:180104	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:180104	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:180104	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:180104	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:180104	PDE6G	5148	HP:0007401	Macular atrophy
OMIM:180104	PDE6G	5148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	PDE6G	5148	HP:0040049	Macular edema
OMIM:180104	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	PDE6G	5148	HP:0000518	Cataract
OMIM:180104	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:180104	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:180104	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:180104	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:180104	IMPDH1	3614	HP:0007401	Macular atrophy
OMIM:180104	IMPDH1	3614	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	IMPDH1	3614	HP:0040049	Macular edema
OMIM:180104	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	IMPDH1	3614	HP:0000518	Cataract
OMIM:180104	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:180104	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:180104	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:180104	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:180104	OFD1	8481	HP:0007401	Macular atrophy
OMIM:180104	OFD1	8481	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	OFD1	8481	HP:0040049	Macular edema
OMIM:180104	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	OFD1	8481	HP:0000518	Cataract
OMIM:180104	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:180104	OFD1	8481	HP:0000662	Nyctalopia
OMIM:180104	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:180104	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:180104	GUCA1B	2979	HP:0007401	Macular atrophy
OMIM:180104	GUCA1B	2979	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	GUCA1B	2979	HP:0040049	Macular edema
OMIM:180104	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	GUCA1B	2979	HP:0000518	Cataract
OMIM:180104	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:180104	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:180104	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:180104	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:180104	NRL	4901	HP:0007401	Macular atrophy
OMIM:180104	NRL	4901	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	NRL	4901	HP:0040049	Macular edema
OMIM:180104	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	NRL	4901	HP:0000518	Cataract
OMIM:180104	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:180104	NRL	4901	HP:0000662	Nyctalopia
OMIM:180104	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:180104	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:180104	PDE6B	5158	HP:0007401	Macular atrophy
OMIM:180104	PDE6B	5158	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	PDE6B	5158	HP:0040049	Macular edema
OMIM:180104	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	PDE6B	5158	HP:0000518	Cataract
OMIM:180104	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:180104	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:180104	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:180104	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:180104	KLHL7	55975	HP:0007401	Macular atrophy
OMIM:180104	KLHL7	55975	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	KLHL7	55975	HP:0040049	Macular edema
OMIM:180104	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	KLHL7	55975	HP:0000518	Cataract
OMIM:180104	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:180104	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:180104	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:180104	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:180104	PRPF4	9128	HP:0007401	Macular atrophy
OMIM:180104	PRPF4	9128	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	PRPF4	9128	HP:0040049	Macular edema
OMIM:180104	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	PRPF4	9128	HP:0000518	Cataract
OMIM:180104	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:180104	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:180104	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:180104	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:180104	PRPF3	9129	HP:0007401	Macular atrophy
OMIM:180104	PRPF3	9129	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	PRPF3	9129	HP:0040049	Macular edema
OMIM:180104	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	PRPF3	9129	HP:0000518	Cataract
OMIM:180104	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:180104	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:180104	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:180104	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:180104	FAM161A	84140	HP:0007401	Macular atrophy
OMIM:180104	FAM161A	84140	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	FAM161A	84140	HP:0040049	Macular edema
OMIM:180104	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	FAM161A	84140	HP:0000518	Cataract
OMIM:180104	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:180104	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:180104	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:180104	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:180104	IFT172	26160	HP:0007401	Macular atrophy
OMIM:180104	IFT172	26160	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	IFT172	26160	HP:0040049	Macular edema
OMIM:180104	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	IFT172	26160	HP:0000518	Cataract
OMIM:180104	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:180104	IFT172	26160	HP:0000662	Nyctalopia
OMIM:180104	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:180104	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:180104	KIZ	55857	HP:0007401	Macular atrophy
OMIM:180104	KIZ	55857	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	KIZ	55857	HP:0040049	Macular edema
OMIM:180104	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	KIZ	55857	HP:0000518	Cataract
OMIM:180104	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:180104	KIZ	55857	HP:0000662	Nyctalopia
OMIM:180104	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:180104	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:180104	CDHR1	92211	HP:0007401	Macular atrophy
OMIM:180104	CDHR1	92211	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	CDHR1	92211	HP:0040049	Macular edema
OMIM:180104	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	CDHR1	92211	HP:0000518	Cataract
OMIM:180104	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:180104	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:180104	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:180104	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:180104	ZNF408	79797	HP:0007401	Macular atrophy
OMIM:180104	ZNF408	79797	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	ZNF408	79797	HP:0040049	Macular edema
OMIM:180104	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	ZNF408	79797	HP:0000518	Cataract
OMIM:180104	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:180104	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:180104	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:180104	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:180104	RBP3	5949	HP:0007401	Macular atrophy
OMIM:180104	RBP3	5949	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	RBP3	5949	HP:0040049	Macular edema
OMIM:180104	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	RBP3	5949	HP:0000518	Cataract
OMIM:180104	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:180104	RBP3	5949	HP:0000662	Nyctalopia
OMIM:180104	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:180104	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:180104	HGSNAT	138050	HP:0007401	Macular atrophy
OMIM:180104	HGSNAT	138050	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	HGSNAT	138050	HP:0040049	Macular edema
OMIM:180104	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	HGSNAT	138050	HP:0000518	Cataract
OMIM:180104	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:180104	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:180104	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:180104	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:180104	FSCN2	25794	HP:0007401	Macular atrophy
OMIM:180104	FSCN2	25794	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	FSCN2	25794	HP:0040049	Macular edema
OMIM:180104	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	FSCN2	25794	HP:0000518	Cataract
OMIM:180104	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:180104	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:180104	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:180104	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:180104	PRCD	768206	HP:0007401	Macular atrophy
OMIM:180104	PRCD	768206	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	PRCD	768206	HP:0040049	Macular edema
OMIM:180104	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	PRCD	768206	HP:0000518	Cataract
OMIM:180104	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:180104	PRCD	768206	HP:0000662	Nyctalopia
OMIM:180104	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:180104	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:180104	BBS2	583	HP:0007401	Macular atrophy
OMIM:180104	BBS2	583	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	BBS2	583	HP:0040049	Macular edema
OMIM:180104	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	BBS2	583	HP:0000518	Cataract
OMIM:180104	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:180104	BBS2	583	HP:0000662	Nyctalopia
OMIM:180104	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:180104	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:180104	RDH12	145226	HP:0007401	Macular atrophy
OMIM:180104	RDH12	145226	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	RDH12	145226	HP:0040049	Macular edema
OMIM:180104	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	RDH12	145226	HP:0000518	Cataract
OMIM:180104	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:180104	RDH12	145226	HP:0000662	Nyctalopia
OMIM:180104	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:180104	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:180104	PRPH2	5961	HP:0007401	Macular atrophy
OMIM:180104	PRPH2	5961	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	PRPH2	5961	HP:0040049	Macular edema
OMIM:180104	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	PRPH2	5961	HP:0000518	Cataract
OMIM:180104	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:180104	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:180104	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:180104	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:180104	DHDDS	79947	HP:0007401	Macular atrophy
OMIM:180104	DHDDS	79947	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	DHDDS	79947	HP:0040049	Macular edema
OMIM:180104	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	DHDDS	79947	HP:0000518	Cataract
OMIM:180104	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:180104	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:180104	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:180104	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:180104	ROM1	6094	HP:0007401	Macular atrophy
OMIM:180104	ROM1	6094	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	ROM1	6094	HP:0040049	Macular edema
OMIM:180104	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	ROM1	6094	HP:0000518	Cataract
OMIM:180104	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:180104	ROM1	6094	HP:0000662	Nyctalopia
OMIM:180104	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:180104	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:180104	C2ORF71	388939	HP:0007401	Macular atrophy
OMIM:180104	C2ORF71	388939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	C2ORF71	388939	HP:0040049	Macular edema
OMIM:180104	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	C2ORF71	388939	HP:0000518	Cataract
OMIM:180104	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:180104	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:180104	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:180104	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:180104	RP9	6100	HP:0007401	Macular atrophy
OMIM:180104	RP9	6100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	RP9	6100	HP:0040049	Macular edema
OMIM:180104	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	RP9	6100	HP:0000518	Cataract
OMIM:180104	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:180104	RP9	6100	HP:0000662	Nyctalopia
OMIM:180104	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:180104	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:180104	PRPF6	24148	HP:0007401	Macular atrophy
OMIM:180104	PRPF6	24148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	PRPF6	24148	HP:0040049	Macular edema
OMIM:180104	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	PRPF6	24148	HP:0000518	Cataract
OMIM:180104	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:180104	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:180104	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:180104	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:180104	RP1	6101	HP:0007401	Macular atrophy
OMIM:180104	RP1	6101	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	RP1	6101	HP:0040049	Macular edema
OMIM:180104	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	RP1	6101	HP:0000518	Cataract
OMIM:180104	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:180104	RP1	6101	HP:0000662	Nyctalopia
OMIM:180104	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:180104	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:180104	RP2	6102	HP:0007401	Macular atrophy
OMIM:180104	RP2	6102	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	RP2	6102	HP:0040049	Macular edema
OMIM:180104	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	RP2	6102	HP:0000518	Cataract
OMIM:180104	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:180104	RP2	6102	HP:0000662	Nyctalopia
OMIM:180104	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:180104	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:180104	RPGR	6103	HP:0007401	Macular atrophy
OMIM:180104	RPGR	6103	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	RPGR	6103	HP:0040049	Macular edema
OMIM:180104	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	RPGR	6103	HP:0000518	Cataract
OMIM:180104	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:180104	RPGR	6103	HP:0000662	Nyctalopia
OMIM:180104	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:180104	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:180104	SEMA4A	64218	HP:0007401	Macular atrophy
OMIM:180104	SEMA4A	64218	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	SEMA4A	64218	HP:0040049	Macular edema
OMIM:180104	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	SEMA4A	64218	HP:0000518	Cataract
OMIM:180104	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:180104	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:180104	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:180104	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:180104	C8ORF37	157657	HP:0007401	Macular atrophy
OMIM:180104	C8ORF37	157657	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	C8ORF37	157657	HP:0040049	Macular edema
OMIM:180104	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	C8ORF37	157657	HP:0000518	Cataract
OMIM:180104	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:180104	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:180104	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:180104	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:180104	IDH3B	3420	HP:0007401	Macular atrophy
OMIM:180104	IDH3B	3420	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	IDH3B	3420	HP:0040049	Macular edema
OMIM:180104	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	IDH3B	3420	HP:0000518	Cataract
OMIM:180104	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:180104	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:180104	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:180104	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:180104	MERTK	10461	HP:0007401	Macular atrophy
OMIM:180104	MERTK	10461	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	MERTK	10461	HP:0040049	Macular edema
OMIM:180104	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	MERTK	10461	HP:0000518	Cataract
OMIM:180104	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:180104	MERTK	10461	HP:0000662	Nyctalopia
OMIM:180104	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:180104	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:180104	PRPF8	10594	HP:0007401	Macular atrophy
OMIM:180104	PRPF8	10594	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	PRPF8	10594	HP:0040049	Macular edema
OMIM:180104	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	PRPF8	10594	HP:0000518	Cataract
OMIM:180104	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:180104	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:180104	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:180104	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:180104	TOPORS	10210	HP:0007401	Macular atrophy
OMIM:180104	TOPORS	10210	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	TOPORS	10210	HP:0040049	Macular edema
OMIM:180104	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	TOPORS	10210	HP:0000518	Cataract
OMIM:180104	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:180104	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:180104	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:180104	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:180104	USH2A	7399	HP:0007401	Macular atrophy
OMIM:180104	USH2A	7399	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	USH2A	7399	HP:0040049	Macular edema
OMIM:180104	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	USH2A	7399	HP:0000518	Cataract
OMIM:180104	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:180104	USH2A	7399	HP:0000662	Nyctalopia
OMIM:180104	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:180104	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:180104	RPE65	6121	HP:0007401	Macular atrophy
OMIM:180104	RPE65	6121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	RPE65	6121	HP:0040049	Macular edema
OMIM:180104	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	RPE65	6121	HP:0000518	Cataract
OMIM:180104	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:180104	RPE65	6121	HP:0000662	Nyctalopia
OMIM:180104	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:180104	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:180104	CLRN1	7401	HP:0007401	Macular atrophy
OMIM:180104	CLRN1	7401	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	CLRN1	7401	HP:0040049	Macular edema
OMIM:180104	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	CLRN1	7401	HP:0000518	Cataract
OMIM:180104	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:180104	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:180104	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:180104	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:180104	CNGB1	1258	HP:0007401	Macular atrophy
OMIM:180104	CNGB1	1258	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	CNGB1	1258	HP:0040049	Macular edema
OMIM:180104	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	CNGB1	1258	HP:0000518	Cataract
OMIM:180104	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:180104	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:180104	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:180104	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:180104	RGR	5995	HP:0007401	Macular atrophy
OMIM:180104	RGR	5995	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	RGR	5995	HP:0040049	Macular edema
OMIM:180104	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	RGR	5995	HP:0000518	Cataract
OMIM:180104	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:180104	RGR	5995	HP:0000662	Nyctalopia
OMIM:180104	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:180104	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:180104	CNGA1	1259	HP:0007401	Macular atrophy
OMIM:180104	CNGA1	1259	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	CNGA1	1259	HP:0040049	Macular edema
OMIM:180104	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	CNGA1	1259	HP:0000518	Cataract
OMIM:180104	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:180104	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:180104	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:180104	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:180104	TUB	7275	HP:0007401	Macular atrophy
OMIM:180104	TUB	7275	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	TUB	7275	HP:0040049	Macular edema
OMIM:180104	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	TUB	7275	HP:0000518	Cataract
OMIM:180104	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:180104	TUB	7275	HP:0000662	Nyctalopia
OMIM:180104	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:180104	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:180104	SNRNP200	23020	HP:0007401	Macular atrophy
OMIM:180104	SNRNP200	23020	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	SNRNP200	23020	HP:0040049	Macular edema
OMIM:180104	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	SNRNP200	23020	HP:0000518	Cataract
OMIM:180104	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:180104	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:180104	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:180104	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:180104	SLC7A14	57709	HP:0007401	Macular atrophy
OMIM:180104	SLC7A14	57709	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	SLC7A14	57709	HP:0040049	Macular edema
OMIM:180104	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	SLC7A14	57709	HP:0000518	Cataract
OMIM:180104	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:180104	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:180104	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:180104	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:180104	TULP1	7287	HP:0007401	Macular atrophy
OMIM:180104	TULP1	7287	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	TULP1	7287	HP:0040049	Macular edema
OMIM:180104	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	TULP1	7287	HP:0000518	Cataract
OMIM:180104	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:180104	TULP1	7287	HP:0000662	Nyctalopia
OMIM:180104	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:180104	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:180104	RHO	6010	HP:0007401	Macular atrophy
OMIM:180104	RHO	6010	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	RHO	6010	HP:0040049	Macular edema
OMIM:180104	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	RHO	6010	HP:0000518	Cataract
OMIM:180104	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:180104	RHO	6010	HP:0000662	Nyctalopia
OMIM:180104	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:180104	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:180104	CA4	762	HP:0007401	Macular atrophy
OMIM:180104	CA4	762	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	CA4	762	HP:0040049	Macular edema
OMIM:180104	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	CA4	762	HP:0000518	Cataract
OMIM:180104	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:180104	CA4	762	HP:0000662	Nyctalopia
OMIM:180104	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:180104	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:180104	CRB1	23418	HP:0007401	Macular atrophy
OMIM:180104	CRB1	23418	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	CRB1	23418	HP:0040049	Macular edema
OMIM:180104	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	CRB1	23418	HP:0000518	Cataract
OMIM:180104	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:180104	CRB1	23418	HP:0000662	Nyctalopia
OMIM:180104	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:180104	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:180104	IMPG2	50939	HP:0007401	Macular atrophy
OMIM:180104	IMPG2	50939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	IMPG2	50939	HP:0040049	Macular edema
OMIM:180104	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	IMPG2	50939	HP:0000518	Cataract
OMIM:180104	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:180104	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:180104	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:180104	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:180104	ZNF513	130557	HP:0007401	Macular atrophy
OMIM:180104	ZNF513	130557	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	ZNF513	130557	HP:0040049	Macular edema
OMIM:180104	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	ZNF513	130557	HP:0000518	Cataract
OMIM:180104	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:180104	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:180104	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:180104	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:180104	CRX	1406	HP:0007401	Macular atrophy
OMIM:180104	CRX	1406	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180104	CRX	1406	HP:0040049	Macular edema
OMIM:180104	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180104	CRX	1406	HP:0000518	Cataract
OMIM:180104	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:180104	CRX	1406	HP:0000662	Nyctalopia
OMIM:180104	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:602535	NFIX	4784	HP:0002007	Frontal bossing
OMIM:602535	NFIX	4784	HP:0000278	Retrognathia
OMIM:602535	NFIX	4784	HP:0000322	Short philtrum
OMIM:602535	NFIX	4784	HP:0003819	Death in childhood
OMIM:602535	NFIX	4784	HP:0001601	Laryngomalacia
OMIM:602535	NFIX	4784	HP:0004349	Reduced bone mineral density
OMIM:602535	NFIX	4784	HP:0000157	Abnormality of the tongue
OMIM:602535	NFIX	4784	HP:0000592	Blue sclerae
OMIM:602535	NFIX	4784	HP:0005280	Depressed nasal bridge
OMIM:602535	NFIX	4784	HP:0009882	Short distal phalanx of finger
OMIM:602535	NFIX	4784	HP:0000664	Synophrys
OMIM:602535	NFIX	4784	HP:0001508	Failure to thrive
OMIM:602535	NFIX	4784	HP:0000574	Thick eyebrow
OMIM:602535	NFIX	4784	HP:0000212	Gingival overgrowth
OMIM:602535	NFIX	4784	HP:0000098	Tall stature
OMIM:602535	NFIX	4784	HP:0003100	Slender long bone
OMIM:602535	NFIX	4784	HP:0000347	Micrognathia
OMIM:602535	NFIX	4784	HP:0000463	Anteverted nares
OMIM:602535	NFIX	4784	HP:0000162	Glossoptosis
OMIM:602535	NFIX	4784	HP:0011220	Prominent forehead
OMIM:602535	NFIX	4784	HP:0000767	Pectus excavatum
OMIM:602535	NFIX	4784	HP:0005616	Accelerated skeletal maturation
OMIM:602535	NFIX	4784	HP:0000405	Conductive hearing impairment
OMIM:602535	NFIX	4784	HP:0001252	Muscular hypotonia
OMIM:602535	NFIX	4784	HP:0002650	Scoliosis
OMIM:602535	NFIX	4784	HP:0000453	Choanal atresia
OMIM:602535	NFIX	4784	HP:0000974	Hyperextensible skin
OMIM:602535	NFIX	4784	HP:0004325	Decreased body weight
OMIM:602535	NFIX	4784	HP:0002059	Cerebral atrophy
OMIM:602535	NFIX	4784	HP:0000194	Open mouth
OMIM:602535	NFIX	4784	HP:0100543	Cognitive impairment
OMIM:602535	NFIX	4784	HP:0000365	Hearing impairment
OMIM:602535	NFIX	4784	HP:0000452	Choanal stenosis
OMIM:602535	NFIX	4784	HP:0000998	Hypertrichosis
OMIM:602535	NFIX	4784	HP:0003745	Sporadic
OMIM:602535	NFIX	4784	HP:0001382	Joint hypermobility
OMIM:602535	NFIX	4784	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:602535	NFIX	4784	HP:0002119	Ventriculomegaly
OMIM:602535	NFIX	4784	HP:0001643	Patent ductus arteriosus
OMIM:602535	NFIX	4784	HP:0003311	Hypoplasia of the odontoid process
OMIM:602535	NFIX	4784	HP:0000316	Hypertelorism
OMIM:602535	NFIX	4784	HP:0002652	Skeletal dysplasia
OMIM:602535	NFIX	4784	HP:0006487	Bowing of the long bones
OMIM:602535	NFIX	4784	HP:0000648	Optic atrophy
OMIM:602535	NFIX	4784	HP:0000963	Thin skin
OMIM:602535	NFIX	4784	HP:0000006	Autosomal dominant inheritance
OMIM:602535	NFIX	4784	HP:0001363	Craniosynostosis
OMIM:602535	NFIX	4784	HP:0002757	Recurrent fractures
OMIM:602535	NFIX	4784	HP:0001274	Agenesis of corpus callosum
OMIM:602535	NFIX	4784	HP:0000978	Bruising susceptibility
OMIM:602535	NFIX	4784	HP:0001270	Motor delay
OMIM:602535	NFIX	4784	HP:0011800	Hypoplasia of midface
OMIM:602535	NFIX	4784	HP:0002093	Respiratory insufficiency
OMIM:602535	NFIX	4784	HP:0001631	Atria septal defect
OMIM:602535	NFIX	4784	HP:0001539	Omphalocele
OMIM:602535	NFIX	4784	HP:0003196	Short nose
OMIM:602535	NFIX	4784	HP:0000520	Proptosis
OMIM:602535	NFIX	4784	HP:0000879	Short sternum
OMIM:602535	NFIX	4784	HP:0001537	Umbilical hernia
OMIM:602535	NFIX	4784	HP:0000369	Low-set ears
OMIM:602535	NFIX	4784	HP:0001249	Intellectual disability
OMIM:602535	NFIX	4784	HP:0000396	Overfolded helix
OMIM:602535	NFIX	4784	HP:0010759	Prominence of the premaxilla
OMIM:602535	NFIX	4784	HP:0000272	Malar flattening
OMIM:605362	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:605362	EYA4	2070	HP:0001644	Dilated cardiomyopathy
OMIM:605362	EYA4	2070	HP:0001635	Congestive heart failure
OMIM:605362	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:605362	EYA4	2070	HP:0001645	Sudden cardiac death
OMIM:300387	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300387	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300387	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300387	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300387	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300387	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300387	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300387	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300387	SYP	6855	HP:0001249	Intellectual disability
OMIM:300387	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300387	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300387	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300387	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300387	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300387	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300387	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300387	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300387	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300387	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300387	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300387	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300387	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300387	DMD	1756	HP:0001249	Intellectual disability
OMIM:300387	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300387	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300387	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300387	MID2	11043	HP:0001249	Intellectual disability
OMIM:300387	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300387	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300387	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300387	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300387	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300387	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300387	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300387	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300387	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300387	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300387	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300387	MED12	9968	HP:0001249	Intellectual disability
OMIM:300387	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300387	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300387	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300387	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300387	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300387	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300387	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300387	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300387	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300387	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300387	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300387	ARX	170302	HP:0001249	Intellectual disability
OMIM:300387	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300387	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300387	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300387	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300387	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:614430	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:226600	MMP1	4312	HP:0008069	Neoplasm of the skin
OMIM:226600	MMP1	4312	HP:0000505	Visual impairment
OMIM:226600	MMP1	4312	HP:0000083	Renal insufficiency
OMIM:226600	MMP1	4312	HP:0000413	Atresia of the external auditory canal
OMIM:226600	MMP1	4312	HP:0002015	Dysphagia
OMIM:226600	MMP1	4312	HP:0200042	Skin ulcer
OMIM:226600	MMP1	4312	HP:0001903	Anemia
OMIM:226600	MMP1	4312	HP:0002019	Constipation
OMIM:226600	MMP1	4312	HP:0008404	Nail dystrophy
OMIM:226600	MMP1	4312	HP:0008872	Feeding difficulties in infancy
OMIM:226600	MMP1	4312	HP:0000142	Abnormality of the vagina
OMIM:226600	MMP1	4312	HP:0006101	Finger syndactyly
OMIM:226600	MMP1	4312	HP:0000160	Narrow mouth
OMIM:226600	MMP1	4312	HP:0001030	Fragile skin
OMIM:226600	MMP1	4312	HP:0001371	Flexion contracture
OMIM:226600	MMP1	4312	HP:0006297	Hypoplasia of dental enamel
OMIM:226600	MMP1	4312	HP:0000007	Autosomal recessive inheritance
OMIM:226600	MMP1	4312	HP:0001596	Alopecia
OMIM:226600	MMP1	4312	HP:0004395	Malnutrition
OMIM:226600	MMP1	4312	HP:0010296	Ankyloglossia
OMIM:226600	MMP1	4312	HP:0001075	Atrophic scars
OMIM:226600	MMP1	4312	HP:0004349	Reduced bone mineral density
OMIM:226600	MMP1	4312	HP:0001798	Anonychia
OMIM:226600	MMP1	4312	HP:0010624	Aplastic/hypoplastic toenail
OMIM:226600	MMP1	4312	HP:0000518	Cataract
OMIM:226600	MMP1	4312	HP:0001231	Abnormality of the fingernails
OMIM:226600	MMP1	4312	HP:0001770	Toe syndactyly
OMIM:226600	MMP1	4312	HP:0002164	Nail dysplasia
OMIM:226600	MMP1	4312	HP:0000670	Carious teeth
OMIM:226600	MMP1	4312	HP:0002575	Tracheoesophageal fistula
OMIM:226600	MMP1	4312	HP:0000112	Nephropathy
OMIM:226600	MMP1	4312	HP:0001510	Growth delay
OMIM:226600	MMP1	4312	HP:0002860	Squamous cell carcinoma
OMIM:226600	MMP1	4312	HP:0000509	Conjunctivitis
OMIM:226600	MMP1	4312	HP:0001639	Hypertrophic cardiomyopathy
OMIM:226600	MMP1	4312	HP:0000498	Blepharitis
OMIM:226600	MMP1	4312	HP:0003577	Congenital onset
OMIM:226600	MMP1	4312	HP:0001824	Weight loss
OMIM:226600	MMP1	4312	HP:0000989	Pruritus
OMIM:226600	MMP1	4312	HP:0000365	Hearing impairment
OMIM:226600	MMP1	4312	HP:0000080	Abnormality of reproductive system physiology
OMIM:226600	COL7A1	1294	HP:0008069	Neoplasm of the skin
OMIM:226600	COL7A1	1294	HP:0000505	Visual impairment
OMIM:226600	COL7A1	1294	HP:0000083	Renal insufficiency
OMIM:226600	COL7A1	1294	HP:0000413	Atresia of the external auditory canal
OMIM:226600	COL7A1	1294	HP:0002015	Dysphagia
OMIM:226600	COL7A1	1294	HP:0200042	Skin ulcer
OMIM:226600	COL7A1	1294	HP:0001903	Anemia
OMIM:226600	COL7A1	1294	HP:0002019	Constipation
OMIM:226600	COL7A1	1294	HP:0008404	Nail dystrophy
OMIM:226600	COL7A1	1294	HP:0008872	Feeding difficulties in infancy
OMIM:226600	COL7A1	1294	HP:0000142	Abnormality of the vagina
OMIM:226600	COL7A1	1294	HP:0006101	Finger syndactyly
OMIM:226600	COL7A1	1294	HP:0000160	Narrow mouth
OMIM:226600	COL7A1	1294	HP:0001030	Fragile skin
OMIM:226600	COL7A1	1294	HP:0001371	Flexion contracture
OMIM:226600	COL7A1	1294	HP:0006297	Hypoplasia of dental enamel
OMIM:226600	COL7A1	1294	HP:0000007	Autosomal recessive inheritance
OMIM:226600	COL7A1	1294	HP:0001596	Alopecia
OMIM:226600	COL7A1	1294	HP:0004395	Malnutrition
OMIM:226600	COL7A1	1294	HP:0010296	Ankyloglossia
OMIM:226600	COL7A1	1294	HP:0001075	Atrophic scars
OMIM:226600	COL7A1	1294	HP:0004349	Reduced bone mineral density
OMIM:226600	COL7A1	1294	HP:0001798	Anonychia
OMIM:226600	COL7A1	1294	HP:0010624	Aplastic/hypoplastic toenail
OMIM:226600	COL7A1	1294	HP:0000518	Cataract
OMIM:226600	COL7A1	1294	HP:0001231	Abnormality of the fingernails
OMIM:226600	COL7A1	1294	HP:0001770	Toe syndactyly
OMIM:226600	COL7A1	1294	HP:0002164	Nail dysplasia
OMIM:226600	COL7A1	1294	HP:0000670	Carious teeth
OMIM:226600	COL7A1	1294	HP:0002575	Tracheoesophageal fistula
OMIM:226600	COL7A1	1294	HP:0000112	Nephropathy
OMIM:226600	COL7A1	1294	HP:0001510	Growth delay
OMIM:226600	COL7A1	1294	HP:0002860	Squamous cell carcinoma
OMIM:226600	COL7A1	1294	HP:0000509	Conjunctivitis
OMIM:226600	COL7A1	1294	HP:0001639	Hypertrophic cardiomyopathy
OMIM:226600	COL7A1	1294	HP:0000498	Blepharitis
OMIM:226600	COL7A1	1294	HP:0003577	Congenital onset
OMIM:226600	COL7A1	1294	HP:0001824	Weight loss
OMIM:226600	COL7A1	1294	HP:0000989	Pruritus
OMIM:226600	COL7A1	1294	HP:0000365	Hearing impairment
OMIM:226600	COL7A1	1294	HP:0000080	Abnormality of reproductive system physiology
OMIM:609821	P2RY12	64805	HP:0000978	Bruising susceptibility
OMIM:609821	P2RY12	64805	HP:0000421	Epistaxis
OMIM:609821	P2RY12	64805	HP:0000007	Autosomal recessive inheritance
OMIM:609821	P2RX1	5023	HP:0000978	Bruising susceptibility
OMIM:609821	P2RX1	5023	HP:0000421	Epistaxis
OMIM:609821	P2RX1	5023	HP:0000007	Autosomal recessive inheritance
OMIM:267300	ATP6V0A4	50617	HP:0000407	Sensorineural hearing impairment
OMIM:267300	ATP6V0A4	50617	HP:0000787	Nephrolithiasis
OMIM:267300	ATP6V0A4	50617	HP:0000007	Autosomal recessive inheritance
OMIM:267300	ATP6V1B1	525	HP:0000407	Sensorineural hearing impairment
OMIM:267300	ATP6V1B1	525	HP:0000787	Nephrolithiasis
OMIM:267300	ATP6V1B1	525	HP:0000007	Autosomal recessive inheritance
OMIM:605431	MAPK8IP3	23162	HP:0000006	Autosomal dominant inheritance
OMIM:605431	MAPK8IP3	23162	HP:0000505	Visual impairment
ORPHANET:474	TTC21B	79809	HP:0001392	Abnormality of the liver
ORPHANET:474	TTC21B	79809	HP:0004322	Short stature
ORPHANET:474	TTC21B	79809	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:474	TTC21B	79809	HP:0002652	Skeletal dysplasia
ORPHANET:474	TTC21B	79809	HP:0002983	Micromelia
ORPHANET:474	TTC21B	79809	HP:0008872	Feeding difficulties in infancy
ORPHANET:474	TTC21B	79809	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:474	TTC21B	79809	HP:0010579	Cone-shaped epiphysis
ORPHANET:474	TTC21B	79809	HP:0002093	Respiratory insufficiency
ORPHANET:474	TTC21B	79809	HP:0000772	Abnormality of the ribs
ORPHANET:474	TTC21B	79809	HP:0000889	Abnormality of the clavicle
ORPHANET:474	TTC21B	79809	HP:0001156	Brachydactyly syndrome
ORPHANET:474	TTC21B	79809	HP:0000083	Renal insufficiency
ORPHANET:474	TTC21B	79809	HP:0000766	Abnormality of the sternum
ORPHANET:474	TTC21B	79809	HP:0001162	Postaxial hand polydactyly
ORPHANET:474	TTC21B	79809	HP:0000774	Narrow chest
ORPHANET:474	TTC21B	79809	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:474	TTC21B	79809	HP:0010306	Short thorax
ORPHANET:474	TTC21B	79809	HP:0000112	Nephropathy
ORPHANET:474	TTC21B	79809	HP:0001770	Toe syndactyly
ORPHANET:474	TTC21B	79809	HP:0001831	Short toe
ORPHANET:474	TTC21B	79809	HP:0000944	Abnormality of the metaphyses
ORPHANET:474	WDR19	57728	HP:0001392	Abnormality of the liver
ORPHANET:474	WDR19	57728	HP:0004322	Short stature
ORPHANET:474	WDR19	57728	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:474	WDR19	57728	HP:0002652	Skeletal dysplasia
ORPHANET:474	WDR19	57728	HP:0002983	Micromelia
ORPHANET:474	WDR19	57728	HP:0008872	Feeding difficulties in infancy
ORPHANET:474	WDR19	57728	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:474	WDR19	57728	HP:0010579	Cone-shaped epiphysis
ORPHANET:474	WDR19	57728	HP:0002093	Respiratory insufficiency
ORPHANET:474	WDR19	57728	HP:0000772	Abnormality of the ribs
ORPHANET:474	WDR19	57728	HP:0000889	Abnormality of the clavicle
ORPHANET:474	WDR19	57728	HP:0001156	Brachydactyly syndrome
ORPHANET:474	WDR19	57728	HP:0000083	Renal insufficiency
ORPHANET:474	WDR19	57728	HP:0000766	Abnormality of the sternum
ORPHANET:474	WDR19	57728	HP:0001162	Postaxial hand polydactyly
ORPHANET:474	WDR19	57728	HP:0000774	Narrow chest
ORPHANET:474	WDR19	57728	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:474	WDR19	57728	HP:0010306	Short thorax
ORPHANET:474	WDR19	57728	HP:0000112	Nephropathy
ORPHANET:474	WDR19	57728	HP:0001770	Toe syndactyly
ORPHANET:474	WDR19	57728	HP:0001831	Short toe
ORPHANET:474	WDR19	57728	HP:0000944	Abnormality of the metaphyses
ORPHANET:474	IFT172	26160	HP:0001392	Abnormality of the liver
ORPHANET:474	IFT172	26160	HP:0004322	Short stature
ORPHANET:474	IFT172	26160	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:474	IFT172	26160	HP:0002652	Skeletal dysplasia
ORPHANET:474	IFT172	26160	HP:0002983	Micromelia
ORPHANET:474	IFT172	26160	HP:0008872	Feeding difficulties in infancy
ORPHANET:474	IFT172	26160	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:474	IFT172	26160	HP:0010579	Cone-shaped epiphysis
ORPHANET:474	IFT172	26160	HP:0002093	Respiratory insufficiency
ORPHANET:474	IFT172	26160	HP:0000772	Abnormality of the ribs
ORPHANET:474	IFT172	26160	HP:0000889	Abnormality of the clavicle
ORPHANET:474	IFT172	26160	HP:0001156	Brachydactyly syndrome
ORPHANET:474	IFT172	26160	HP:0000083	Renal insufficiency
ORPHANET:474	IFT172	26160	HP:0000766	Abnormality of the sternum
ORPHANET:474	IFT172	26160	HP:0001162	Postaxial hand polydactyly
ORPHANET:474	IFT172	26160	HP:0000774	Narrow chest
ORPHANET:474	IFT172	26160	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:474	IFT172	26160	HP:0010306	Short thorax
ORPHANET:474	IFT172	26160	HP:0000112	Nephropathy
ORPHANET:474	IFT172	26160	HP:0001770	Toe syndactyly
ORPHANET:474	IFT172	26160	HP:0001831	Short toe
ORPHANET:474	IFT172	26160	HP:0000944	Abnormality of the metaphyses
ORPHANET:474	WDR34	89891	HP:0001392	Abnormality of the liver
ORPHANET:474	WDR34	89891	HP:0004322	Short stature
ORPHANET:474	WDR34	89891	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:474	WDR34	89891	HP:0002652	Skeletal dysplasia
ORPHANET:474	WDR34	89891	HP:0002983	Micromelia
ORPHANET:474	WDR34	89891	HP:0008872	Feeding difficulties in infancy
ORPHANET:474	WDR34	89891	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:474	WDR34	89891	HP:0010579	Cone-shaped epiphysis
ORPHANET:474	WDR34	89891	HP:0002093	Respiratory insufficiency
ORPHANET:474	WDR34	89891	HP:0000772	Abnormality of the ribs
ORPHANET:474	WDR34	89891	HP:0000889	Abnormality of the clavicle
ORPHANET:474	WDR34	89891	HP:0001156	Brachydactyly syndrome
ORPHANET:474	WDR34	89891	HP:0000083	Renal insufficiency
ORPHANET:474	WDR34	89891	HP:0000766	Abnormality of the sternum
ORPHANET:474	WDR34	89891	HP:0001162	Postaxial hand polydactyly
ORPHANET:474	WDR34	89891	HP:0000774	Narrow chest
ORPHANET:474	WDR34	89891	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:474	WDR34	89891	HP:0010306	Short thorax
ORPHANET:474	WDR34	89891	HP:0000112	Nephropathy
ORPHANET:474	WDR34	89891	HP:0001770	Toe syndactyly
ORPHANET:474	WDR34	89891	HP:0001831	Short toe
ORPHANET:474	WDR34	89891	HP:0000944	Abnormality of the metaphyses
ORPHANET:474	IFT80	57560	HP:0001392	Abnormality of the liver
ORPHANET:474	IFT80	57560	HP:0004322	Short stature
ORPHANET:474	IFT80	57560	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:474	IFT80	57560	HP:0002652	Skeletal dysplasia
ORPHANET:474	IFT80	57560	HP:0002983	Micromelia
ORPHANET:474	IFT80	57560	HP:0008872	Feeding difficulties in infancy
ORPHANET:474	IFT80	57560	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:474	IFT80	57560	HP:0010579	Cone-shaped epiphysis
ORPHANET:474	IFT80	57560	HP:0002093	Respiratory insufficiency
ORPHANET:474	IFT80	57560	HP:0000772	Abnormality of the ribs
ORPHANET:474	IFT80	57560	HP:0000889	Abnormality of the clavicle
ORPHANET:474	IFT80	57560	HP:0001156	Brachydactyly syndrome
ORPHANET:474	IFT80	57560	HP:0000083	Renal insufficiency
ORPHANET:474	IFT80	57560	HP:0000766	Abnormality of the sternum
ORPHANET:474	IFT80	57560	HP:0001162	Postaxial hand polydactyly
ORPHANET:474	IFT80	57560	HP:0000774	Narrow chest
ORPHANET:474	IFT80	57560	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:474	IFT80	57560	HP:0010306	Short thorax
ORPHANET:474	IFT80	57560	HP:0000112	Nephropathy
ORPHANET:474	IFT80	57560	HP:0001770	Toe syndactyly
ORPHANET:474	IFT80	57560	HP:0001831	Short toe
ORPHANET:474	IFT80	57560	HP:0000944	Abnormality of the metaphyses
ORPHANET:474	WDR60	55112	HP:0001392	Abnormality of the liver
ORPHANET:474	WDR60	55112	HP:0004322	Short stature
ORPHANET:474	WDR60	55112	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:474	WDR60	55112	HP:0002652	Skeletal dysplasia
ORPHANET:474	WDR60	55112	HP:0002983	Micromelia
ORPHANET:474	WDR60	55112	HP:0008872	Feeding difficulties in infancy
ORPHANET:474	WDR60	55112	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:474	WDR60	55112	HP:0010579	Cone-shaped epiphysis
ORPHANET:474	WDR60	55112	HP:0002093	Respiratory insufficiency
ORPHANET:474	WDR60	55112	HP:0000772	Abnormality of the ribs
ORPHANET:474	WDR60	55112	HP:0000889	Abnormality of the clavicle
ORPHANET:474	WDR60	55112	HP:0001156	Brachydactyly syndrome
ORPHANET:474	WDR60	55112	HP:0000083	Renal insufficiency
ORPHANET:474	WDR60	55112	HP:0000766	Abnormality of the sternum
ORPHANET:474	WDR60	55112	HP:0001162	Postaxial hand polydactyly
ORPHANET:474	WDR60	55112	HP:0000774	Narrow chest
ORPHANET:474	WDR60	55112	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:474	WDR60	55112	HP:0010306	Short thorax
ORPHANET:474	WDR60	55112	HP:0000112	Nephropathy
ORPHANET:474	WDR60	55112	HP:0001770	Toe syndactyly
ORPHANET:474	WDR60	55112	HP:0001831	Short toe
ORPHANET:474	WDR60	55112	HP:0000944	Abnormality of the metaphyses
ORPHANET:474	DYNC2H1	79659	HP:0001392	Abnormality of the liver
ORPHANET:474	DYNC2H1	79659	HP:0004322	Short stature
ORPHANET:474	DYNC2H1	79659	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:474	DYNC2H1	79659	HP:0002652	Skeletal dysplasia
ORPHANET:474	DYNC2H1	79659	HP:0002983	Micromelia
ORPHANET:474	DYNC2H1	79659	HP:0008872	Feeding difficulties in infancy
ORPHANET:474	DYNC2H1	79659	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:474	DYNC2H1	79659	HP:0010579	Cone-shaped epiphysis
ORPHANET:474	DYNC2H1	79659	HP:0002093	Respiratory insufficiency
ORPHANET:474	DYNC2H1	79659	HP:0000772	Abnormality of the ribs
ORPHANET:474	DYNC2H1	79659	HP:0000889	Abnormality of the clavicle
ORPHANET:474	DYNC2H1	79659	HP:0001156	Brachydactyly syndrome
ORPHANET:474	DYNC2H1	79659	HP:0000083	Renal insufficiency
ORPHANET:474	DYNC2H1	79659	HP:0000766	Abnormality of the sternum
ORPHANET:474	DYNC2H1	79659	HP:0001162	Postaxial hand polydactyly
ORPHANET:474	DYNC2H1	79659	HP:0000774	Narrow chest
ORPHANET:474	DYNC2H1	79659	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:474	DYNC2H1	79659	HP:0010306	Short thorax
ORPHANET:474	DYNC2H1	79659	HP:0000112	Nephropathy
ORPHANET:474	DYNC2H1	79659	HP:0001770	Toe syndactyly
ORPHANET:474	DYNC2H1	79659	HP:0001831	Short toe
ORPHANET:474	DYNC2H1	79659	HP:0000944	Abnormality of the metaphyses
ORPHANET:474	CEP120	153241	HP:0001392	Abnormality of the liver
ORPHANET:474	CEP120	153241	HP:0004322	Short stature
ORPHANET:474	CEP120	153241	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:474	CEP120	153241	HP:0002652	Skeletal dysplasia
ORPHANET:474	CEP120	153241	HP:0002983	Micromelia
ORPHANET:474	CEP120	153241	HP:0008872	Feeding difficulties in infancy
ORPHANET:474	CEP120	153241	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:474	CEP120	153241	HP:0010579	Cone-shaped epiphysis
ORPHANET:474	CEP120	153241	HP:0002093	Respiratory insufficiency
ORPHANET:474	CEP120	153241	HP:0000772	Abnormality of the ribs
ORPHANET:474	CEP120	153241	HP:0000889	Abnormality of the clavicle
ORPHANET:474	CEP120	153241	HP:0001156	Brachydactyly syndrome
ORPHANET:474	CEP120	153241	HP:0000083	Renal insufficiency
ORPHANET:474	CEP120	153241	HP:0000766	Abnormality of the sternum
ORPHANET:474	CEP120	153241	HP:0001162	Postaxial hand polydactyly
ORPHANET:474	CEP120	153241	HP:0000774	Narrow chest
ORPHANET:474	CEP120	153241	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:474	CEP120	153241	HP:0010306	Short thorax
ORPHANET:474	CEP120	153241	HP:0000112	Nephropathy
ORPHANET:474	CEP120	153241	HP:0001770	Toe syndactyly
ORPHANET:474	CEP120	153241	HP:0001831	Short toe
ORPHANET:474	CEP120	153241	HP:0000944	Abnormality of the metaphyses
ORPHANET:474	IFT140	9742	HP:0001392	Abnormality of the liver
ORPHANET:474	IFT140	9742	HP:0004322	Short stature
ORPHANET:474	IFT140	9742	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:474	IFT140	9742	HP:0002652	Skeletal dysplasia
ORPHANET:474	IFT140	9742	HP:0002983	Micromelia
ORPHANET:474	IFT140	9742	HP:0008872	Feeding difficulties in infancy
ORPHANET:474	IFT140	9742	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:474	IFT140	9742	HP:0010579	Cone-shaped epiphysis
ORPHANET:474	IFT140	9742	HP:0002093	Respiratory insufficiency
ORPHANET:474	IFT140	9742	HP:0000772	Abnormality of the ribs
ORPHANET:474	IFT140	9742	HP:0000889	Abnormality of the clavicle
ORPHANET:474	IFT140	9742	HP:0001156	Brachydactyly syndrome
ORPHANET:474	IFT140	9742	HP:0000083	Renal insufficiency
ORPHANET:474	IFT140	9742	HP:0000766	Abnormality of the sternum
ORPHANET:474	IFT140	9742	HP:0001162	Postaxial hand polydactyly
ORPHANET:474	IFT140	9742	HP:0000774	Narrow chest
ORPHANET:474	IFT140	9742	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:474	IFT140	9742	HP:0010306	Short thorax
ORPHANET:474	IFT140	9742	HP:0000112	Nephropathy
ORPHANET:474	IFT140	9742	HP:0001770	Toe syndactyly
ORPHANET:474	IFT140	9742	HP:0001831	Short toe
ORPHANET:474	IFT140	9742	HP:0000944	Abnormality of the metaphyses
OMIM:302020	S100G	795	HP:0001417	X-linked inheritance
OMIM:606071	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:606071	TRPV4	59341	HP:0000407	Sensorineural hearing impairment
OMIM:606071	TRPV4	59341	HP:0009130	Hand muscle atrophy
OMIM:606071	TRPV4	59341	HP:0004322	Short stature
OMIM:606071	TRPV4	59341	HP:0002936	Distal sensory impairment
OMIM:606071	TRPV4	59341	HP:0001761	Pes cavus
OMIM:606071	TRPV4	59341	HP:0001765	Hammertoe
OMIM:606071	TRPV4	59341	HP:0003674	Onset
OMIM:606071	TRPV4	59341	HP:0200021	Down-sloping shoulders
OMIM:606071	TRPV4	59341	HP:0002878	Respiratory failure
OMIM:606071	TRPV4	59341	HP:0001604	Vocal cord paresis
OMIM:606071	TRPV4	59341	HP:0003829	Incomplete penetrance
OMIM:606071	TRPV4	59341	HP:0001265	Hyporeflexia
OMIM:606071	TRPV4	59341	HP:0000012	Urinary urgency
OMIM:606071	TRPV4	59341	HP:0000020	Urinary incontinence
OMIM:606071	TRPV4	59341	HP:0002460	Distal muscle weakness
OMIM:606071	TRPV4	59341	HP:0002650	Scoliosis
OMIM:606071	TRPV4	59341	HP:0003724	Shoulder girdle muscle atrophy
OMIM:606071	TRPV4	59341	HP:0001284	Areflexia
OMIM:606071	TRPV4	59341	HP:0009027	Foot dorsiflexor weakness
OMIM:189800	STOX1	219736	HP:0000822	Hypertension
OMIM:189800	STOX1	219736	HP:0001511	Intrauterine growth retardation
OMIM:189800	STOX1	219736	HP:0000006	Autosomal dominant inheritance
OMIM:189800	STOX1	219736	HP:0002910	Elevated hepatic transaminases
OMIM:189800	STOX1	219736	HP:0000093	Proteinuria
OMIM:189800	STOX1	219736	HP:0000969	Edema
OMIM:189800	STOX1	219736	HP:0001873	Thrombocytopenia
OMIM:189800	STOX1	219736	HP:0001250	Seizures
OMIM:189800	STOX1	219736	HP:0100602	Preeclampsia
OMIM:189800	CORIN	10699	HP:0000822	Hypertension
OMIM:189800	CORIN	10699	HP:0001511	Intrauterine growth retardation
OMIM:189800	CORIN	10699	HP:0000006	Autosomal dominant inheritance
OMIM:189800	CORIN	10699	HP:0002910	Elevated hepatic transaminases
OMIM:189800	CORIN	10699	HP:0000093	Proteinuria
OMIM:189800	CORIN	10699	HP:0000969	Edema
OMIM:189800	CORIN	10699	HP:0001873	Thrombocytopenia
OMIM:189800	CORIN	10699	HP:0001250	Seizures
OMIM:189800	CORIN	10699	HP:0100602	Preeclampsia
OMIM:216411	ERCC8	1161	HP:0001176	Large hands
OMIM:216411	ERCC8	1161	HP:0002621	Atherosclerosis
OMIM:216411	ERCC8	1161	HP:0004334	Dermal atrophy
OMIM:216411	ERCC8	1161	HP:0011400	Abnormal CNS myelination
OMIM:216411	ERCC8	1161	HP:0000365	Hearing impairment
OMIM:216411	ERCC8	1161	HP:0001833	Long foot
OMIM:216411	ERCC8	1161	HP:0001249	Intellectual disability
OMIM:216411	ERCC8	1161	HP:0000546	Retinal degeneration
OMIM:216411	ERCC8	1161	HP:0000252	Microcephaly
OMIM:216411	ERCC8	1161	HP:0000377	Abnormality of the pinna
OMIM:216411	ERCC8	1161	HP:0001371	Flexion contracture
OMIM:216411	ERCC8	1161	HP:0000822	Hypertension
OMIM:216411	ERCC8	1161	HP:0000992	Cutaneous photosensitivity
OMIM:216411	ERCC8	1161	HP:0007495	Prematurely aged appearance
OMIM:216411	ERCC8	1161	HP:0006958	Abnormal auditory evoked potentials
OMIM:216411	ERCC8	1161	HP:0000726	Dementia
OMIM:216411	ERCC8	1161	HP:0003510	Severe short stature
OMIM:216411	ERCC8	1161	HP:0000007	Autosomal recessive inheritance
OMIM:216411	ERCC8	1161	HP:0000987	Atypical scarring of skin
OMIM:216411	ERCC8	1161	HP:0002514	Cerebral calcification
OMIM:216411	ERCC8	1161	HP:0003130	Abnormal peripheral myelination
OMIM:216411	ERCC8	1161	HP:0000303	Mandibular prognathia
OMIM:216411	ERCC8	1161	HP:0001000	Abnormality of skin pigmentation
OMIM:216411	ERCC8	1161	HP:0001288	Gait disturbance
OMIM:216411	ERCC8	1161	HP:0000093	Proteinuria
OMIM:216411	ERCC8	1161	HP:0000649	Abnormality of visual evoked potentials
OMIM:216411	ERCC8	1161	HP:0000648	Optic atrophy
OMIM:216411	ERCC8	1161	HP:0000096	Glomerulosclerosis
OMIM:216411	ERCC6	2074	HP:0001176	Large hands
OMIM:216411	ERCC6	2074	HP:0002621	Atherosclerosis
OMIM:216411	ERCC6	2074	HP:0004334	Dermal atrophy
OMIM:216411	ERCC6	2074	HP:0011400	Abnormal CNS myelination
OMIM:216411	ERCC6	2074	HP:0000365	Hearing impairment
OMIM:216411	ERCC6	2074	HP:0001833	Long foot
OMIM:216411	ERCC6	2074	HP:0001249	Intellectual disability
OMIM:216411	ERCC6	2074	HP:0000546	Retinal degeneration
OMIM:216411	ERCC6	2074	HP:0000252	Microcephaly
OMIM:216411	ERCC6	2074	HP:0000377	Abnormality of the pinna
OMIM:216411	ERCC6	2074	HP:0001371	Flexion contracture
OMIM:216411	ERCC6	2074	HP:0000822	Hypertension
OMIM:216411	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:216411	ERCC6	2074	HP:0007495	Prematurely aged appearance
OMIM:216411	ERCC6	2074	HP:0006958	Abnormal auditory evoked potentials
OMIM:216411	ERCC6	2074	HP:0000726	Dementia
OMIM:216411	ERCC6	2074	HP:0003510	Severe short stature
OMIM:216411	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:216411	ERCC6	2074	HP:0000987	Atypical scarring of skin
OMIM:216411	ERCC6	2074	HP:0002514	Cerebral calcification
OMIM:216411	ERCC6	2074	HP:0003130	Abnormal peripheral myelination
OMIM:216411	ERCC6	2074	HP:0000303	Mandibular prognathia
OMIM:216411	ERCC6	2074	HP:0001000	Abnormality of skin pigmentation
OMIM:216411	ERCC6	2074	HP:0001288	Gait disturbance
OMIM:216411	ERCC6	2074	HP:0000093	Proteinuria
OMIM:216411	ERCC6	2074	HP:0000649	Abnormality of visual evoked potentials
OMIM:216411	ERCC6	2074	HP:0000648	Optic atrophy
OMIM:216411	ERCC6	2074	HP:0000096	Glomerulosclerosis
OMIM:304100	L1CAM	3897	HP:0001324	Muscle weakness
OMIM:304100	L1CAM	3897	HP:0002251	Aganglionic megacolon
OMIM:304100	L1CAM	3897	HP:0100543	Cognitive impairment
OMIM:304100	L1CAM	3897	HP:0000238	Hydrocephalus
OMIM:304100	L1CAM	3897	HP:0001999	Abnormal facial shape
OMIM:304100	L1CAM	3897	HP:0001321	Cerebellar hypoplasia
OMIM:304100	L1CAM	3897	HP:0001417	X-linked inheritance
OMIM:304100	L1CAM	3897	HP:0001250	Seizures
OMIM:304100	L1CAM	3897	HP:0001276	Hypertonia
OMIM:304100	L1CAM	3897	HP:0001249	Intellectual disability
OMIM:304100	L1CAM	3897	HP:0001338	Partial agenesis of the corpus callosum
OMIM:304100	L1CAM	3897	HP:0001257	Spasticity
OMIM:304100	L1CAM	3897	HP:0000252	Microcephaly
ORPHANET:1377	CRYAA	1409	HP:0000639	Nystagmus
ORPHANET:1377	CRYAA	1409	HP:0007759	Opacification of the corneal stroma
ORPHANET:1377	CRYAA	1409	HP:0000518	Cataract
ORPHANET:1377	CRYAA	1409	HP:0000545	Myopia
ORPHANET:1377	CRYAA	1409	HP:0000482	Microcornea
ORPHANET:1377	CRYAA	1409	HP:0000612	Iris coloboma
ORPHANET:1377	CRYAA	1409	HP:0001131	Corneal dystrophy
ORPHANET:1377	CRYBA4	1413	HP:0000639	Nystagmus
ORPHANET:1377	CRYBA4	1413	HP:0007759	Opacification of the corneal stroma
ORPHANET:1377	CRYBA4	1413	HP:0000518	Cataract
ORPHANET:1377	CRYBA4	1413	HP:0000545	Myopia
ORPHANET:1377	CRYBA4	1413	HP:0000482	Microcornea
ORPHANET:1377	CRYBA4	1413	HP:0000612	Iris coloboma
ORPHANET:1377	CRYBA4	1413	HP:0001131	Corneal dystrophy
ORPHANET:1377	CRYBB1	1414	HP:0000639	Nystagmus
ORPHANET:1377	CRYBB1	1414	HP:0007759	Opacification of the corneal stroma
ORPHANET:1377	CRYBB1	1414	HP:0000518	Cataract
ORPHANET:1377	CRYBB1	1414	HP:0000545	Myopia
ORPHANET:1377	CRYBB1	1414	HP:0000482	Microcornea
ORPHANET:1377	CRYBB1	1414	HP:0000612	Iris coloboma
ORPHANET:1377	CRYBB1	1414	HP:0001131	Corneal dystrophy
ORPHANET:1377	CRYBB2	1415	HP:0000639	Nystagmus
ORPHANET:1377	CRYBB2	1415	HP:0007759	Opacification of the corneal stroma
ORPHANET:1377	CRYBB2	1415	HP:0000518	Cataract
ORPHANET:1377	CRYBB2	1415	HP:0000545	Myopia
ORPHANET:1377	CRYBB2	1415	HP:0000482	Microcornea
ORPHANET:1377	CRYBB2	1415	HP:0000612	Iris coloboma
ORPHANET:1377	CRYBB2	1415	HP:0001131	Corneal dystrophy
ORPHANET:1377	CRYGC	1420	HP:0000639	Nystagmus
ORPHANET:1377	CRYGC	1420	HP:0007759	Opacification of the corneal stroma
ORPHANET:1377	CRYGC	1420	HP:0000518	Cataract
ORPHANET:1377	CRYGC	1420	HP:0000545	Myopia
ORPHANET:1377	CRYGC	1420	HP:0000482	Microcornea
ORPHANET:1377	CRYGC	1420	HP:0000612	Iris coloboma
ORPHANET:1377	CRYGC	1420	HP:0001131	Corneal dystrophy
ORPHANET:1377	CRYGD	1421	HP:0000639	Nystagmus
ORPHANET:1377	CRYGD	1421	HP:0007759	Opacification of the corneal stroma
ORPHANET:1377	CRYGD	1421	HP:0000518	Cataract
ORPHANET:1377	CRYGD	1421	HP:0000545	Myopia
ORPHANET:1377	CRYGD	1421	HP:0000482	Microcornea
ORPHANET:1377	CRYGD	1421	HP:0000612	Iris coloboma
ORPHANET:1377	CRYGD	1421	HP:0001131	Corneal dystrophy
ORPHANET:1377	MAF	4094	HP:0000639	Nystagmus
ORPHANET:1377	MAF	4094	HP:0007759	Opacification of the corneal stroma
ORPHANET:1377	MAF	4094	HP:0000518	Cataract
ORPHANET:1377	MAF	4094	HP:0000545	Myopia
ORPHANET:1377	MAF	4094	HP:0000482	Microcornea
ORPHANET:1377	MAF	4094	HP:0000612	Iris coloboma
ORPHANET:1377	MAF	4094	HP:0001131	Corneal dystrophy
ORPHANET:1377	GJA8	2703	HP:0000639	Nystagmus
ORPHANET:1377	GJA8	2703	HP:0007759	Opacification of the corneal stroma
ORPHANET:1377	GJA8	2703	HP:0000518	Cataract
ORPHANET:1377	GJA8	2703	HP:0000545	Myopia
ORPHANET:1377	GJA8	2703	HP:0000482	Microcornea
ORPHANET:1377	GJA8	2703	HP:0000612	Iris coloboma
ORPHANET:1377	GJA8	2703	HP:0001131	Corneal dystrophy
OMIM:132810	EPHX1	2052	HP:0000006	Autosomal dominant inheritance
OMIM:132810	EPHX1	2052	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:258860	TCTN3	26123	HP:0000316	Hypertelorism
OMIM:258860	TCTN3	26123	HP:0011039	Abnormality of the helix
OMIM:258860	TCTN3	26123	HP:0002970	Genu varum
OMIM:258860	TCTN3	26123	HP:0000496	Abnormality of eye movement
OMIM:258860	TCTN3	26123	HP:0004322	Short stature
OMIM:258860	TCTN3	26123	HP:0000347	Micrognathia
OMIM:258860	TCTN3	26123	HP:0001770	Toe syndactyly
OMIM:258860	TCTN3	26123	HP:0001177	Preaxial hand polydactyly
OMIM:258860	TCTN3	26123	HP:0001829	Foot polydactyly
OMIM:258860	TCTN3	26123	HP:0001601	Laryngomalacia
OMIM:258860	TCTN3	26123	HP:0000007	Autosomal recessive inheritance
OMIM:258860	TCTN3	26123	HP:0005736	Short tibia
OMIM:258860	TCTN3	26123	HP:0002983	Micromelia
OMIM:258860	TCTN3	26123	HP:0009381	Short finger
OMIM:258860	TCTN3	26123	HP:0000252	Microcephaly
OMIM:258860	TCTN3	26123	HP:0000035	Abnormality of the testis
OMIM:258860	TCTN3	26123	HP:0000286	Epicanthus
OMIM:258860	TCTN3	26123	HP:0000161	Median cleft lip
OMIM:258860	TCTN3	26123	HP:0100589	Urogenital fistula
OMIM:258860	TCTN3	26123	HP:0002120	Cerebral cortical atrophy
OMIM:258860	TCTN3	26123	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:258860	TCTN3	26123	HP:0008678	Renal hypoplasia/aplasia
OMIM:258860	TCTN3	26123	HP:0000175	Cleft palate
OMIM:258860	TCTN3	26123	HP:0030084	Clinodactyly
OMIM:258860	TCTN3	26123	HP:0000368	Low-set, posteriorly rotated ears
OMIM:258860	TCTN3	26123	HP:0001156	Brachydactyly syndrome
OMIM:258860	TCTN3	26123	HP:0000405	Conductive hearing impairment
OMIM:258860	TCTN3	26123	HP:0001373	Joint dislocation
OMIM:258860	TCTN3	26123	HP:0000218	High palate
OMIM:258860	TCTN3	26123	HP:0002132	Porencephaly
OMIM:258860	TCTN3	26123	HP:0000767	Pectus excavatum
OMIM:258860	TCTN3	26123	HP:0008207	Primary adrenal insufficiency
OMIM:258860	TCTN3	26123	HP:0000520	Proptosis
OMIM:258860	TCTN3	26123	HP:0001800	Hypoplastic toenails
OMIM:258860	TCTN3	26123	HP:0002205	Recurrent respiratory infections
OMIM:258860	TCTN3	26123	HP:0100490	Camptodactyly of finger
OMIM:258860	TCTN3	26123	HP:0001511	Intrauterine growth retardation
OMIM:258860	TCTN3	26123	HP:0000322	Short philtrum
OMIM:258860	TCTN3	26123	HP:0006101	Finger syndactyly
OMIM:258860	TCTN3	26123	HP:0100543	Cognitive impairment
OMIM:258860	TCTN3	26123	HP:0000453	Choanal atresia
OMIM:258860	TCTN3	26123	HP:0003196	Short nose
OMIM:258860	TCTN3	26123	HP:0000457	Depressed nasal ridge
OMIM:258860	TCTN3	26123	HP:0001162	Postaxial hand polydactyly
OMIM:258860	TCTN3	26123	HP:0001562	Oligohydramnios
ORPHANET:899	B4GAT1	11041	HP:0000377	Abnormality of the pinna
ORPHANET:899	B4GAT1	11041	HP:0000238	Hydrocephalus
ORPHANET:899	B4GAT1	11041	HP:0001315	Reduced tendon reflexes
ORPHANET:899	B4GAT1	11041	HP:0100335	Non-midline cleft lip
ORPHANET:899	B4GAT1	11041	HP:0100543	Cognitive impairment
ORPHANET:899	B4GAT1	11041	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	B4GAT1	11041	HP:0000252	Microcephaly
ORPHANET:899	B4GAT1	11041	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	B4GAT1	11041	HP:0001250	Seizures
ORPHANET:899	B4GAT1	11041	HP:0008736	Hypoplasia of penis
ORPHANET:899	B4GAT1	11041	HP:0000501	Glaucoma
ORPHANET:899	B4GAT1	11041	HP:0000532	Chorioretinal abnormality
ORPHANET:899	B4GAT1	11041	HP:0002084	Encephalocele
ORPHANET:899	B4GAT1	11041	HP:0000648	Optic atrophy
ORPHANET:899	B4GAT1	11041	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	B4GAT1	11041	HP:0001324	Muscle weakness
ORPHANET:899	B4GAT1	11041	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	B4GAT1	11041	HP:0001252	Muscular hypotonia
ORPHANET:899	B4GAT1	11041	HP:0000482	Microcornea
ORPHANET:899	B4GAT1	11041	HP:0000175	Cleft palate
ORPHANET:899	B4GAT1	11041	HP:0000518	Cataract
ORPHANET:899	B4GAT1	11041	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	B4GAT1	11041	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	B4GAT1	11041	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	B4GAT1	11041	HP:0000256	Macrocephaly
ORPHANET:899	B4GAT1	11041	HP:0000612	Iris coloboma
ORPHANET:899	B4GAT1	11041	HP:0000028	Cryptorchidism
ORPHANET:899	B4GAT1	11041	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	B4GAT1	11041	HP:0001883	Talipes
ORPHANET:899	B4GAT1	11041	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	B4GAT1	11041	HP:0001305	Dandy-Walker malformation
ORPHANET:899	B4GAT1	11041	HP:0000541	Retinal detachment
ORPHANET:899	POMT2	29954	HP:0000377	Abnormality of the pinna
ORPHANET:899	POMT2	29954	HP:0000238	Hydrocephalus
ORPHANET:899	POMT2	29954	HP:0001315	Reduced tendon reflexes
ORPHANET:899	POMT2	29954	HP:0100335	Non-midline cleft lip
ORPHANET:899	POMT2	29954	HP:0100543	Cognitive impairment
ORPHANET:899	POMT2	29954	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	POMT2	29954	HP:0000252	Microcephaly
ORPHANET:899	POMT2	29954	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	POMT2	29954	HP:0001250	Seizures
ORPHANET:899	POMT2	29954	HP:0008736	Hypoplasia of penis
ORPHANET:899	POMT2	29954	HP:0000501	Glaucoma
ORPHANET:899	POMT2	29954	HP:0000532	Chorioretinal abnormality
ORPHANET:899	POMT2	29954	HP:0002084	Encephalocele
ORPHANET:899	POMT2	29954	HP:0000648	Optic atrophy
ORPHANET:899	POMT2	29954	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	POMT2	29954	HP:0001324	Muscle weakness
ORPHANET:899	POMT2	29954	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	POMT2	29954	HP:0001252	Muscular hypotonia
ORPHANET:899	POMT2	29954	HP:0000482	Microcornea
ORPHANET:899	POMT2	29954	HP:0000175	Cleft palate
ORPHANET:899	POMT2	29954	HP:0000518	Cataract
ORPHANET:899	POMT2	29954	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	POMT2	29954	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	POMT2	29954	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	POMT2	29954	HP:0000256	Macrocephaly
ORPHANET:899	POMT2	29954	HP:0000612	Iris coloboma
ORPHANET:899	POMT2	29954	HP:0000028	Cryptorchidism
ORPHANET:899	POMT2	29954	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	POMT2	29954	HP:0001883	Talipes
ORPHANET:899	POMT2	29954	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	POMT2	29954	HP:0001305	Dandy-Walker malformation
ORPHANET:899	POMT2	29954	HP:0000541	Retinal detachment
ORPHANET:899	COL4A1	1282	HP:0000377	Abnormality of the pinna
ORPHANET:899	COL4A1	1282	HP:0000238	Hydrocephalus
ORPHANET:899	COL4A1	1282	HP:0001315	Reduced tendon reflexes
ORPHANET:899	COL4A1	1282	HP:0100335	Non-midline cleft lip
ORPHANET:899	COL4A1	1282	HP:0100543	Cognitive impairment
ORPHANET:899	COL4A1	1282	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	COL4A1	1282	HP:0000252	Microcephaly
ORPHANET:899	COL4A1	1282	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	COL4A1	1282	HP:0001250	Seizures
ORPHANET:899	COL4A1	1282	HP:0008736	Hypoplasia of penis
ORPHANET:899	COL4A1	1282	HP:0000501	Glaucoma
ORPHANET:899	COL4A1	1282	HP:0000532	Chorioretinal abnormality
ORPHANET:899	COL4A1	1282	HP:0002084	Encephalocele
ORPHANET:899	COL4A1	1282	HP:0000648	Optic atrophy
ORPHANET:899	COL4A1	1282	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	COL4A1	1282	HP:0001324	Muscle weakness
ORPHANET:899	COL4A1	1282	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	COL4A1	1282	HP:0001252	Muscular hypotonia
ORPHANET:899	COL4A1	1282	HP:0000482	Microcornea
ORPHANET:899	COL4A1	1282	HP:0000175	Cleft palate
ORPHANET:899	COL4A1	1282	HP:0000518	Cataract
ORPHANET:899	COL4A1	1282	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	COL4A1	1282	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	COL4A1	1282	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	COL4A1	1282	HP:0000256	Macrocephaly
ORPHANET:899	COL4A1	1282	HP:0000612	Iris coloboma
ORPHANET:899	COL4A1	1282	HP:0000028	Cryptorchidism
ORPHANET:899	COL4A1	1282	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	COL4A1	1282	HP:0001883	Talipes
ORPHANET:899	COL4A1	1282	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	COL4A1	1282	HP:0001305	Dandy-Walker malformation
ORPHANET:899	COL4A1	1282	HP:0000541	Retinal detachment
ORPHANET:899	POMK	84197	HP:0000377	Abnormality of the pinna
ORPHANET:899	POMK	84197	HP:0000238	Hydrocephalus
ORPHANET:899	POMK	84197	HP:0001315	Reduced tendon reflexes
ORPHANET:899	POMK	84197	HP:0100335	Non-midline cleft lip
ORPHANET:899	POMK	84197	HP:0100543	Cognitive impairment
ORPHANET:899	POMK	84197	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	POMK	84197	HP:0000252	Microcephaly
ORPHANET:899	POMK	84197	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	POMK	84197	HP:0001250	Seizures
ORPHANET:899	POMK	84197	HP:0008736	Hypoplasia of penis
ORPHANET:899	POMK	84197	HP:0000501	Glaucoma
ORPHANET:899	POMK	84197	HP:0000532	Chorioretinal abnormality
ORPHANET:899	POMK	84197	HP:0002084	Encephalocele
ORPHANET:899	POMK	84197	HP:0000648	Optic atrophy
ORPHANET:899	POMK	84197	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	POMK	84197	HP:0001324	Muscle weakness
ORPHANET:899	POMK	84197	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	POMK	84197	HP:0001252	Muscular hypotonia
ORPHANET:899	POMK	84197	HP:0000482	Microcornea
ORPHANET:899	POMK	84197	HP:0000175	Cleft palate
ORPHANET:899	POMK	84197	HP:0000518	Cataract
ORPHANET:899	POMK	84197	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	POMK	84197	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	POMK	84197	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	POMK	84197	HP:0000256	Macrocephaly
ORPHANET:899	POMK	84197	HP:0000612	Iris coloboma
ORPHANET:899	POMK	84197	HP:0000028	Cryptorchidism
ORPHANET:899	POMK	84197	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	POMK	84197	HP:0001883	Talipes
ORPHANET:899	POMK	84197	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	POMK	84197	HP:0001305	Dandy-Walker malformation
ORPHANET:899	POMK	84197	HP:0000541	Retinal detachment
ORPHANET:899	DAG1	1605	HP:0000377	Abnormality of the pinna
ORPHANET:899	DAG1	1605	HP:0000238	Hydrocephalus
ORPHANET:899	DAG1	1605	HP:0001315	Reduced tendon reflexes
ORPHANET:899	DAG1	1605	HP:0100335	Non-midline cleft lip
ORPHANET:899	DAG1	1605	HP:0100543	Cognitive impairment
ORPHANET:899	DAG1	1605	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	DAG1	1605	HP:0000252	Microcephaly
ORPHANET:899	DAG1	1605	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	DAG1	1605	HP:0001250	Seizures
ORPHANET:899	DAG1	1605	HP:0008736	Hypoplasia of penis
ORPHANET:899	DAG1	1605	HP:0000501	Glaucoma
ORPHANET:899	DAG1	1605	HP:0000532	Chorioretinal abnormality
ORPHANET:899	DAG1	1605	HP:0002084	Encephalocele
ORPHANET:899	DAG1	1605	HP:0000648	Optic atrophy
ORPHANET:899	DAG1	1605	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	DAG1	1605	HP:0001324	Muscle weakness
ORPHANET:899	DAG1	1605	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	DAG1	1605	HP:0001252	Muscular hypotonia
ORPHANET:899	DAG1	1605	HP:0000482	Microcornea
ORPHANET:899	DAG1	1605	HP:0000175	Cleft palate
ORPHANET:899	DAG1	1605	HP:0000518	Cataract
ORPHANET:899	DAG1	1605	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	DAG1	1605	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	DAG1	1605	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	DAG1	1605	HP:0000256	Macrocephaly
ORPHANET:899	DAG1	1605	HP:0000612	Iris coloboma
ORPHANET:899	DAG1	1605	HP:0000028	Cryptorchidism
ORPHANET:899	DAG1	1605	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	DAG1	1605	HP:0001883	Talipes
ORPHANET:899	DAG1	1605	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	DAG1	1605	HP:0001305	Dandy-Walker malformation
ORPHANET:899	DAG1	1605	HP:0000541	Retinal detachment
ORPHANET:899	POMGNT1	55624	HP:0000377	Abnormality of the pinna
ORPHANET:899	POMGNT1	55624	HP:0000238	Hydrocephalus
ORPHANET:899	POMGNT1	55624	HP:0001315	Reduced tendon reflexes
ORPHANET:899	POMGNT1	55624	HP:0100335	Non-midline cleft lip
ORPHANET:899	POMGNT1	55624	HP:0100543	Cognitive impairment
ORPHANET:899	POMGNT1	55624	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	POMGNT1	55624	HP:0000252	Microcephaly
ORPHANET:899	POMGNT1	55624	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	POMGNT1	55624	HP:0001250	Seizures
ORPHANET:899	POMGNT1	55624	HP:0008736	Hypoplasia of penis
ORPHANET:899	POMGNT1	55624	HP:0000501	Glaucoma
ORPHANET:899	POMGNT1	55624	HP:0000532	Chorioretinal abnormality
ORPHANET:899	POMGNT1	55624	HP:0002084	Encephalocele
ORPHANET:899	POMGNT1	55624	HP:0000648	Optic atrophy
ORPHANET:899	POMGNT1	55624	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	POMGNT1	55624	HP:0001324	Muscle weakness
ORPHANET:899	POMGNT1	55624	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	POMGNT1	55624	HP:0001252	Muscular hypotonia
ORPHANET:899	POMGNT1	55624	HP:0000482	Microcornea
ORPHANET:899	POMGNT1	55624	HP:0000175	Cleft palate
ORPHANET:899	POMGNT1	55624	HP:0000518	Cataract
ORPHANET:899	POMGNT1	55624	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	POMGNT1	55624	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	POMGNT1	55624	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	POMGNT1	55624	HP:0000256	Macrocephaly
ORPHANET:899	POMGNT1	55624	HP:0000612	Iris coloboma
ORPHANET:899	POMGNT1	55624	HP:0000028	Cryptorchidism
ORPHANET:899	POMGNT1	55624	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	POMGNT1	55624	HP:0001883	Talipes
ORPHANET:899	POMGNT1	55624	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	POMGNT1	55624	HP:0001305	Dandy-Walker malformation
ORPHANET:899	POMGNT1	55624	HP:0000541	Retinal detachment
ORPHANET:899	FKTN	2218	HP:0000377	Abnormality of the pinna
ORPHANET:899	FKTN	2218	HP:0000238	Hydrocephalus
ORPHANET:899	FKTN	2218	HP:0001315	Reduced tendon reflexes
ORPHANET:899	FKTN	2218	HP:0100335	Non-midline cleft lip
ORPHANET:899	FKTN	2218	HP:0100543	Cognitive impairment
ORPHANET:899	FKTN	2218	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	FKTN	2218	HP:0000252	Microcephaly
ORPHANET:899	FKTN	2218	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	FKTN	2218	HP:0001250	Seizures
ORPHANET:899	FKTN	2218	HP:0008736	Hypoplasia of penis
ORPHANET:899	FKTN	2218	HP:0000501	Glaucoma
ORPHANET:899	FKTN	2218	HP:0000532	Chorioretinal abnormality
ORPHANET:899	FKTN	2218	HP:0002084	Encephalocele
ORPHANET:899	FKTN	2218	HP:0000648	Optic atrophy
ORPHANET:899	FKTN	2218	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	FKTN	2218	HP:0001324	Muscle weakness
ORPHANET:899	FKTN	2218	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	FKTN	2218	HP:0001252	Muscular hypotonia
ORPHANET:899	FKTN	2218	HP:0000482	Microcornea
ORPHANET:899	FKTN	2218	HP:0000175	Cleft palate
ORPHANET:899	FKTN	2218	HP:0000518	Cataract
ORPHANET:899	FKTN	2218	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	FKTN	2218	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	FKTN	2218	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	FKTN	2218	HP:0000256	Macrocephaly
ORPHANET:899	FKTN	2218	HP:0000612	Iris coloboma
ORPHANET:899	FKTN	2218	HP:0000028	Cryptorchidism
ORPHANET:899	FKTN	2218	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	FKTN	2218	HP:0001883	Talipes
ORPHANET:899	FKTN	2218	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	FKTN	2218	HP:0001305	Dandy-Walker malformation
ORPHANET:899	FKTN	2218	HP:0000541	Retinal detachment
ORPHANET:899	FKRP	79147	HP:0000377	Abnormality of the pinna
ORPHANET:899	FKRP	79147	HP:0000238	Hydrocephalus
ORPHANET:899	FKRP	79147	HP:0001315	Reduced tendon reflexes
ORPHANET:899	FKRP	79147	HP:0100335	Non-midline cleft lip
ORPHANET:899	FKRP	79147	HP:0100543	Cognitive impairment
ORPHANET:899	FKRP	79147	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	FKRP	79147	HP:0000252	Microcephaly
ORPHANET:899	FKRP	79147	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	FKRP	79147	HP:0001250	Seizures
ORPHANET:899	FKRP	79147	HP:0008736	Hypoplasia of penis
ORPHANET:899	FKRP	79147	HP:0000501	Glaucoma
ORPHANET:899	FKRP	79147	HP:0000532	Chorioretinal abnormality
ORPHANET:899	FKRP	79147	HP:0002084	Encephalocele
ORPHANET:899	FKRP	79147	HP:0000648	Optic atrophy
ORPHANET:899	FKRP	79147	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	FKRP	79147	HP:0001324	Muscle weakness
ORPHANET:899	FKRP	79147	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	FKRP	79147	HP:0001252	Muscular hypotonia
ORPHANET:899	FKRP	79147	HP:0000482	Microcornea
ORPHANET:899	FKRP	79147	HP:0000175	Cleft palate
ORPHANET:899	FKRP	79147	HP:0000518	Cataract
ORPHANET:899	FKRP	79147	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	FKRP	79147	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	FKRP	79147	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	FKRP	79147	HP:0000256	Macrocephaly
ORPHANET:899	FKRP	79147	HP:0000612	Iris coloboma
ORPHANET:899	FKRP	79147	HP:0000028	Cryptorchidism
ORPHANET:899	FKRP	79147	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	FKRP	79147	HP:0001883	Talipes
ORPHANET:899	FKRP	79147	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	FKRP	79147	HP:0001305	Dandy-Walker malformation
ORPHANET:899	FKRP	79147	HP:0000541	Retinal detachment
ORPHANET:899	ISPD	729920	HP:0000377	Abnormality of the pinna
ORPHANET:899	ISPD	729920	HP:0000238	Hydrocephalus
ORPHANET:899	ISPD	729920	HP:0001315	Reduced tendon reflexes
ORPHANET:899	ISPD	729920	HP:0100335	Non-midline cleft lip
ORPHANET:899	ISPD	729920	HP:0100543	Cognitive impairment
ORPHANET:899	ISPD	729920	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	ISPD	729920	HP:0000252	Microcephaly
ORPHANET:899	ISPD	729920	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	ISPD	729920	HP:0001250	Seizures
ORPHANET:899	ISPD	729920	HP:0008736	Hypoplasia of penis
ORPHANET:899	ISPD	729920	HP:0000501	Glaucoma
ORPHANET:899	ISPD	729920	HP:0000532	Chorioretinal abnormality
ORPHANET:899	ISPD	729920	HP:0002084	Encephalocele
ORPHANET:899	ISPD	729920	HP:0000648	Optic atrophy
ORPHANET:899	ISPD	729920	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	ISPD	729920	HP:0001324	Muscle weakness
ORPHANET:899	ISPD	729920	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	ISPD	729920	HP:0001252	Muscular hypotonia
ORPHANET:899	ISPD	729920	HP:0000482	Microcornea
ORPHANET:899	ISPD	729920	HP:0000175	Cleft palate
ORPHANET:899	ISPD	729920	HP:0000518	Cataract
ORPHANET:899	ISPD	729920	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	ISPD	729920	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	ISPD	729920	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	ISPD	729920	HP:0000256	Macrocephaly
ORPHANET:899	ISPD	729920	HP:0000612	Iris coloboma
ORPHANET:899	ISPD	729920	HP:0000028	Cryptorchidism
ORPHANET:899	ISPD	729920	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	ISPD	729920	HP:0001883	Talipes
ORPHANET:899	ISPD	729920	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	ISPD	729920	HP:0001305	Dandy-Walker malformation
ORPHANET:899	ISPD	729920	HP:0000541	Retinal detachment
ORPHANET:899	B3GALNT2	148789	HP:0000377	Abnormality of the pinna
ORPHANET:899	B3GALNT2	148789	HP:0000238	Hydrocephalus
ORPHANET:899	B3GALNT2	148789	HP:0001315	Reduced tendon reflexes
ORPHANET:899	B3GALNT2	148789	HP:0100335	Non-midline cleft lip
ORPHANET:899	B3GALNT2	148789	HP:0100543	Cognitive impairment
ORPHANET:899	B3GALNT2	148789	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	B3GALNT2	148789	HP:0000252	Microcephaly
ORPHANET:899	B3GALNT2	148789	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	B3GALNT2	148789	HP:0001250	Seizures
ORPHANET:899	B3GALNT2	148789	HP:0008736	Hypoplasia of penis
ORPHANET:899	B3GALNT2	148789	HP:0000501	Glaucoma
ORPHANET:899	B3GALNT2	148789	HP:0000532	Chorioretinal abnormality
ORPHANET:899	B3GALNT2	148789	HP:0002084	Encephalocele
ORPHANET:899	B3GALNT2	148789	HP:0000648	Optic atrophy
ORPHANET:899	B3GALNT2	148789	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	B3GALNT2	148789	HP:0001324	Muscle weakness
ORPHANET:899	B3GALNT2	148789	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	B3GALNT2	148789	HP:0001252	Muscular hypotonia
ORPHANET:899	B3GALNT2	148789	HP:0000482	Microcornea
ORPHANET:899	B3GALNT2	148789	HP:0000175	Cleft palate
ORPHANET:899	B3GALNT2	148789	HP:0000518	Cataract
ORPHANET:899	B3GALNT2	148789	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	B3GALNT2	148789	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	B3GALNT2	148789	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	B3GALNT2	148789	HP:0000256	Macrocephaly
ORPHANET:899	B3GALNT2	148789	HP:0000612	Iris coloboma
ORPHANET:899	B3GALNT2	148789	HP:0000028	Cryptorchidism
ORPHANET:899	B3GALNT2	148789	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	B3GALNT2	148789	HP:0001883	Talipes
ORPHANET:899	B3GALNT2	148789	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	B3GALNT2	148789	HP:0001305	Dandy-Walker malformation
ORPHANET:899	B3GALNT2	148789	HP:0000541	Retinal detachment
ORPHANET:899	POMT1	10585	HP:0000377	Abnormality of the pinna
ORPHANET:899	POMT1	10585	HP:0000238	Hydrocephalus
ORPHANET:899	POMT1	10585	HP:0001315	Reduced tendon reflexes
ORPHANET:899	POMT1	10585	HP:0100335	Non-midline cleft lip
ORPHANET:899	POMT1	10585	HP:0100543	Cognitive impairment
ORPHANET:899	POMT1	10585	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	POMT1	10585	HP:0000252	Microcephaly
ORPHANET:899	POMT1	10585	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	POMT1	10585	HP:0001250	Seizures
ORPHANET:899	POMT1	10585	HP:0008736	Hypoplasia of penis
ORPHANET:899	POMT1	10585	HP:0000501	Glaucoma
ORPHANET:899	POMT1	10585	HP:0000532	Chorioretinal abnormality
ORPHANET:899	POMT1	10585	HP:0002084	Encephalocele
ORPHANET:899	POMT1	10585	HP:0000648	Optic atrophy
ORPHANET:899	POMT1	10585	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	POMT1	10585	HP:0001324	Muscle weakness
ORPHANET:899	POMT1	10585	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	POMT1	10585	HP:0001252	Muscular hypotonia
ORPHANET:899	POMT1	10585	HP:0000482	Microcornea
ORPHANET:899	POMT1	10585	HP:0000175	Cleft palate
ORPHANET:899	POMT1	10585	HP:0000518	Cataract
ORPHANET:899	POMT1	10585	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	POMT1	10585	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	POMT1	10585	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	POMT1	10585	HP:0000256	Macrocephaly
ORPHANET:899	POMT1	10585	HP:0000612	Iris coloboma
ORPHANET:899	POMT1	10585	HP:0000028	Cryptorchidism
ORPHANET:899	POMT1	10585	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	POMT1	10585	HP:0001883	Talipes
ORPHANET:899	POMT1	10585	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	POMT1	10585	HP:0001305	Dandy-Walker malformation
ORPHANET:899	POMT1	10585	HP:0000541	Retinal detachment
ORPHANET:899	TMEM5	10329	HP:0000377	Abnormality of the pinna
ORPHANET:899	TMEM5	10329	HP:0000238	Hydrocephalus
ORPHANET:899	TMEM5	10329	HP:0001315	Reduced tendon reflexes
ORPHANET:899	TMEM5	10329	HP:0100335	Non-midline cleft lip
ORPHANET:899	TMEM5	10329	HP:0100543	Cognitive impairment
ORPHANET:899	TMEM5	10329	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	TMEM5	10329	HP:0000252	Microcephaly
ORPHANET:899	TMEM5	10329	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	TMEM5	10329	HP:0001250	Seizures
ORPHANET:899	TMEM5	10329	HP:0008736	Hypoplasia of penis
ORPHANET:899	TMEM5	10329	HP:0000501	Glaucoma
ORPHANET:899	TMEM5	10329	HP:0000532	Chorioretinal abnormality
ORPHANET:899	TMEM5	10329	HP:0002084	Encephalocele
ORPHANET:899	TMEM5	10329	HP:0000648	Optic atrophy
ORPHANET:899	TMEM5	10329	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	TMEM5	10329	HP:0001324	Muscle weakness
ORPHANET:899	TMEM5	10329	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	TMEM5	10329	HP:0001252	Muscular hypotonia
ORPHANET:899	TMEM5	10329	HP:0000482	Microcornea
ORPHANET:899	TMEM5	10329	HP:0000175	Cleft palate
ORPHANET:899	TMEM5	10329	HP:0000518	Cataract
ORPHANET:899	TMEM5	10329	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	TMEM5	10329	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	TMEM5	10329	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	TMEM5	10329	HP:0000256	Macrocephaly
ORPHANET:899	TMEM5	10329	HP:0000612	Iris coloboma
ORPHANET:899	TMEM5	10329	HP:0000028	Cryptorchidism
ORPHANET:899	TMEM5	10329	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	TMEM5	10329	HP:0001883	Talipes
ORPHANET:899	TMEM5	10329	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	TMEM5	10329	HP:0001305	Dandy-Walker malformation
ORPHANET:899	TMEM5	10329	HP:0000541	Retinal detachment
ORPHANET:899	POMGNT2	84892	HP:0000377	Abnormality of the pinna
ORPHANET:899	POMGNT2	84892	HP:0000238	Hydrocephalus
ORPHANET:899	POMGNT2	84892	HP:0001315	Reduced tendon reflexes
ORPHANET:899	POMGNT2	84892	HP:0100335	Non-midline cleft lip
ORPHANET:899	POMGNT2	84892	HP:0100543	Cognitive impairment
ORPHANET:899	POMGNT2	84892	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	POMGNT2	84892	HP:0000252	Microcephaly
ORPHANET:899	POMGNT2	84892	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	POMGNT2	84892	HP:0001250	Seizures
ORPHANET:899	POMGNT2	84892	HP:0008736	Hypoplasia of penis
ORPHANET:899	POMGNT2	84892	HP:0000501	Glaucoma
ORPHANET:899	POMGNT2	84892	HP:0000532	Chorioretinal abnormality
ORPHANET:899	POMGNT2	84892	HP:0002084	Encephalocele
ORPHANET:899	POMGNT2	84892	HP:0000648	Optic atrophy
ORPHANET:899	POMGNT2	84892	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	POMGNT2	84892	HP:0001324	Muscle weakness
ORPHANET:899	POMGNT2	84892	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	POMGNT2	84892	HP:0001252	Muscular hypotonia
ORPHANET:899	POMGNT2	84892	HP:0000482	Microcornea
ORPHANET:899	POMGNT2	84892	HP:0000175	Cleft palate
ORPHANET:899	POMGNT2	84892	HP:0000518	Cataract
ORPHANET:899	POMGNT2	84892	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	POMGNT2	84892	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	POMGNT2	84892	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	POMGNT2	84892	HP:0000256	Macrocephaly
ORPHANET:899	POMGNT2	84892	HP:0000612	Iris coloboma
ORPHANET:899	POMGNT2	84892	HP:0000028	Cryptorchidism
ORPHANET:899	POMGNT2	84892	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	POMGNT2	84892	HP:0001883	Talipes
ORPHANET:899	POMGNT2	84892	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	POMGNT2	84892	HP:0001305	Dandy-Walker malformation
ORPHANET:899	POMGNT2	84892	HP:0000541	Retinal detachment
ORPHANET:899	LARGE	9215	HP:0000377	Abnormality of the pinna
ORPHANET:899	LARGE	9215	HP:0000238	Hydrocephalus
ORPHANET:899	LARGE	9215	HP:0001315	Reduced tendon reflexes
ORPHANET:899	LARGE	9215	HP:0100335	Non-midline cleft lip
ORPHANET:899	LARGE	9215	HP:0100543	Cognitive impairment
ORPHANET:899	LARGE	9215	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:899	LARGE	9215	HP:0000252	Microcephaly
ORPHANET:899	LARGE	9215	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:899	LARGE	9215	HP:0001250	Seizures
ORPHANET:899	LARGE	9215	HP:0008736	Hypoplasia of penis
ORPHANET:899	LARGE	9215	HP:0000501	Glaucoma
ORPHANET:899	LARGE	9215	HP:0000532	Chorioretinal abnormality
ORPHANET:899	LARGE	9215	HP:0002084	Encephalocele
ORPHANET:899	LARGE	9215	HP:0000648	Optic atrophy
ORPHANET:899	LARGE	9215	HP:0003202	Skeletal muscle atrophy
ORPHANET:899	LARGE	9215	HP:0001324	Muscle weakness
ORPHANET:899	LARGE	9215	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:899	LARGE	9215	HP:0001252	Muscular hypotonia
ORPHANET:899	LARGE	9215	HP:0000482	Microcornea
ORPHANET:899	LARGE	9215	HP:0000175	Cleft palate
ORPHANET:899	LARGE	9215	HP:0000518	Cataract
ORPHANET:899	LARGE	9215	HP:0004327	Abnormality of the vitreous humor
ORPHANET:899	LARGE	9215	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:899	LARGE	9215	HP:0002269	Abnormality of neuronal migration
ORPHANET:899	LARGE	9215	HP:0000256	Macrocephaly
ORPHANET:899	LARGE	9215	HP:0000612	Iris coloboma
ORPHANET:899	LARGE	9215	HP:0000028	Cryptorchidism
ORPHANET:899	LARGE	9215	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:899	LARGE	9215	HP:0001883	Talipes
ORPHANET:899	LARGE	9215	HP:0007759	Opacification of the corneal stroma
ORPHANET:899	LARGE	9215	HP:0001305	Dandy-Walker malformation
ORPHANET:899	LARGE	9215	HP:0000541	Retinal detachment
OMIM:610978	NKX2-1	7080	HP:0002205	Recurrent respiratory infections
OMIM:610978	NKX2-1	7080	HP:0001251	Ataxia
OMIM:610978	NKX2-1	7080	HP:0002098	Respiratory distress
OMIM:610978	NKX2-1	7080	HP:0001266	Choreoathetosis
OMIM:610978	NKX2-1	7080	HP:0003577	Congenital onset
OMIM:610978	NKX2-1	7080	HP:0000006	Autosomal dominant inheritance
OMIM:610978	NKX2-1	7080	HP:0002355	Difficulty walking
OMIM:610978	NKX2-1	7080	HP:0001332	Dystonia
OMIM:610978	NKX2-1	7080	HP:0002360	Sleep disturbance
OMIM:610978	NKX2-1	7080	HP:0001252	Muscular hypotonia
OMIM:610978	NKX2-1	7080	HP:0001263	Global developmental delay
OMIM:610978	NKX2-1	7080	HP:0001270	Motor delay
OMIM:610978	NKX2-1	7080	HP:0002099	Asthma
OMIM:610978	NKX2-1	7080	HP:0001260	Dysarthria
OMIM:179618	RCVRN	5957	HP:0000478	Abnormality of the eye
OMIM:179618	RCVRN	5957	HP:0000006	Autosomal dominant inheritance
OMIM:614876	PEX19	5824	HP:0001250	Seizures
OMIM:614876	PEX19	5824	HP:0001522	Death in infancy
OMIM:614876	PEX19	5824	HP:0011344	Severe global developmental delay
OMIM:614876	PEX19	5824	HP:0001629	Ventricular septal defect
OMIM:614876	PEX19	5824	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX19	5824	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX19	5824	HP:0002240	Hepatomegaly
OMIM:614876	PEX16	9409	HP:0001250	Seizures
OMIM:614876	PEX16	9409	HP:0001522	Death in infancy
OMIM:614876	PEX16	9409	HP:0011344	Severe global developmental delay
OMIM:614876	PEX16	9409	HP:0001629	Ventricular septal defect
OMIM:614876	PEX16	9409	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX16	9409	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:614876	PEX2	5828	HP:0001250	Seizures
OMIM:614876	PEX2	5828	HP:0001522	Death in infancy
OMIM:614876	PEX2	5828	HP:0011344	Severe global developmental delay
OMIM:614876	PEX2	5828	HP:0001629	Ventricular septal defect
OMIM:614876	PEX2	5828	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX2	5828	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:614876	PEX1	5189	HP:0001250	Seizures
OMIM:614876	PEX1	5189	HP:0001522	Death in infancy
OMIM:614876	PEX1	5189	HP:0011344	Severe global developmental delay
OMIM:614876	PEX1	5189	HP:0001629	Ventricular septal defect
OMIM:614876	PEX1	5189	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX1	5189	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:614876	PEX5	5830	HP:0001250	Seizures
OMIM:614876	PEX5	5830	HP:0001522	Death in infancy
OMIM:614876	PEX5	5830	HP:0011344	Severe global developmental delay
OMIM:614876	PEX5	5830	HP:0001629	Ventricular septal defect
OMIM:614876	PEX5	5830	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX5	5830	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:614876	PEX6	5190	HP:0001250	Seizures
OMIM:614876	PEX6	5190	HP:0001522	Death in infancy
OMIM:614876	PEX6	5190	HP:0011344	Severe global developmental delay
OMIM:614876	PEX6	5190	HP:0001629	Ventricular septal defect
OMIM:614876	PEX6	5190	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX6	5190	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:614876	PEX10	5192	HP:0001250	Seizures
OMIM:614876	PEX10	5192	HP:0001522	Death in infancy
OMIM:614876	PEX10	5192	HP:0011344	Severe global developmental delay
OMIM:614876	PEX10	5192	HP:0001629	Ventricular septal defect
OMIM:614876	PEX10	5192	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX10	5192	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:614876	PEX12	5193	HP:0001250	Seizures
OMIM:614876	PEX12	5193	HP:0001522	Death in infancy
OMIM:614876	PEX12	5193	HP:0011344	Severe global developmental delay
OMIM:614876	PEX12	5193	HP:0001629	Ventricular septal defect
OMIM:614876	PEX12	5193	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX12	5193	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:614876	PEX13	5194	HP:0001250	Seizures
OMIM:614876	PEX13	5194	HP:0001522	Death in infancy
OMIM:614876	PEX13	5194	HP:0011344	Severe global developmental delay
OMIM:614876	PEX13	5194	HP:0001629	Ventricular septal defect
OMIM:614876	PEX13	5194	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX13	5194	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX13	5194	HP:0002240	Hepatomegaly
OMIM:614876	PEX14	5195	HP:0001250	Seizures
OMIM:614876	PEX14	5195	HP:0001522	Death in infancy
OMIM:614876	PEX14	5195	HP:0011344	Severe global developmental delay
OMIM:614876	PEX14	5195	HP:0001629	Ventricular septal defect
OMIM:614876	PEX14	5195	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX14	5195	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:614876	PEX26	55670	HP:0001250	Seizures
OMIM:614876	PEX26	55670	HP:0001522	Death in infancy
OMIM:614876	PEX26	55670	HP:0011344	Severe global developmental delay
OMIM:614876	PEX26	55670	HP:0001629	Ventricular septal defect
OMIM:614876	PEX26	55670	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX26	55670	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:614876	PEX3	8504	HP:0001250	Seizures
OMIM:614876	PEX3	8504	HP:0001522	Death in infancy
OMIM:614876	PEX3	8504	HP:0011344	Severe global developmental delay
OMIM:614876	PEX3	8504	HP:0001629	Ventricular septal defect
OMIM:614876	PEX3	8504	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX3	8504	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:614876	PEX11B	8799	HP:0001250	Seizures
OMIM:614876	PEX11B	8799	HP:0001522	Death in infancy
OMIM:614876	PEX11B	8799	HP:0011344	Severe global developmental delay
OMIM:614876	PEX11B	8799	HP:0001629	Ventricular septal defect
OMIM:614876	PEX11B	8799	HP:0008872	Feeding difficulties in infancy
OMIM:614876	PEX11B	8799	HP:0010655	Epiphyseal stippling
OMIM:614876	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614876	PEX11B	8799	HP:0002240	Hepatomegaly
OMIM:607903	RPL21	6144	HP:0000535	Sparse eyebrow
OMIM:607903	RPL21	6144	HP:0000989	Pruritus
OMIM:607903	RPL21	6144	HP:0002299	Brittle hair
OMIM:607903	RPL21	6144	HP:0007502	Follicular hyperkeratosis
OMIM:607903	RPL21	6144	HP:0000653	Sparse eyelashes
OMIM:607903	RPL21	6144	HP:0003777	Pili torti
OMIM:607903	RPL21	6144	HP:0000007	Autosomal recessive inheritance
OMIM:607903	LPAR6	10161	HP:0000535	Sparse eyebrow
OMIM:607903	LPAR6	10161	HP:0000989	Pruritus
OMIM:607903	LPAR6	10161	HP:0002299	Brittle hair
OMIM:607903	LPAR6	10161	HP:0007502	Follicular hyperkeratosis
OMIM:607903	LPAR6	10161	HP:0000653	Sparse eyelashes
OMIM:607903	LPAR6	10161	HP:0003777	Pili torti
OMIM:607903	LPAR6	10161	HP:0000007	Autosomal recessive inheritance
OMIM:607903	DSG4	147409	HP:0000535	Sparse eyebrow
OMIM:607903	DSG4	147409	HP:0000989	Pruritus
OMIM:607903	DSG4	147409	HP:0002299	Brittle hair
OMIM:607903	DSG4	147409	HP:0007502	Follicular hyperkeratosis
OMIM:607903	DSG4	147409	HP:0000653	Sparse eyelashes
OMIM:607903	DSG4	147409	HP:0003777	Pili torti
OMIM:607903	DSG4	147409	HP:0000007	Autosomal recessive inheritance
OMIM:607903	APCDD1	147495	HP:0000535	Sparse eyebrow
OMIM:607903	APCDD1	147495	HP:0000989	Pruritus
OMIM:607903	APCDD1	147495	HP:0002299	Brittle hair
OMIM:607903	APCDD1	147495	HP:0007502	Follicular hyperkeratosis
OMIM:607903	APCDD1	147495	HP:0000653	Sparse eyelashes
OMIM:607903	APCDD1	147495	HP:0003777	Pili torti
OMIM:607903	APCDD1	147495	HP:0000007	Autosomal recessive inheritance
OMIM:607903	SNRPE	6635	HP:0000535	Sparse eyebrow
OMIM:607903	SNRPE	6635	HP:0000989	Pruritus
OMIM:607903	SNRPE	6635	HP:0002299	Brittle hair
OMIM:607903	SNRPE	6635	HP:0007502	Follicular hyperkeratosis
OMIM:607903	SNRPE	6635	HP:0000653	Sparse eyelashes
OMIM:607903	SNRPE	6635	HP:0003777	Pili torti
OMIM:607903	SNRPE	6635	HP:0000007	Autosomal recessive inheritance
OMIM:607903	LIPH	200879	HP:0000535	Sparse eyebrow
OMIM:607903	LIPH	200879	HP:0000989	Pruritus
OMIM:607903	LIPH	200879	HP:0002299	Brittle hair
OMIM:607903	LIPH	200879	HP:0007502	Follicular hyperkeratosis
OMIM:607903	LIPH	200879	HP:0000653	Sparse eyelashes
OMIM:607903	LIPH	200879	HP:0003777	Pili torti
OMIM:607903	LIPH	200879	HP:0000007	Autosomal recessive inheritance
OMIM:600204	COL9A1	1297	HP:0000006	Autosomal dominant inheritance
OMIM:600204	COL9A1	1297	HP:0002970	Genu varum
OMIM:600204	COL9A1	1297	HP:0002515	Waddling gait
OMIM:600204	COL9A1	1297	HP:0003071	Flattened epiphysis
OMIM:600204	COL9A1	1297	HP:0004279	Short palm
OMIM:600204	COL9A2	1298	HP:0000006	Autosomal dominant inheritance
OMIM:600204	COL9A2	1298	HP:0002970	Genu varum
OMIM:600204	COL9A2	1298	HP:0002515	Waddling gait
OMIM:600204	COL9A2	1298	HP:0003071	Flattened epiphysis
OMIM:600204	COL9A2	1298	HP:0004279	Short palm
OMIM:600204	COL9A3	1299	HP:0000006	Autosomal dominant inheritance
OMIM:600204	COL9A3	1299	HP:0002970	Genu varum
OMIM:600204	COL9A3	1299	HP:0002515	Waddling gait
OMIM:600204	COL9A3	1299	HP:0003071	Flattened epiphysis
OMIM:600204	COL9A3	1299	HP:0004279	Short palm
OMIM:201450	ACADM	34	HP:0001263	Global developmental delay
OMIM:201450	ACADM	34	HP:0001943	Hypoglycemia
OMIM:201450	ACADM	34	HP:0002181	Cerebral edema
OMIM:201450	ACADM	34	HP:0000007	Autosomal recessive inheritance
OMIM:201450	ACADM	34	HP:0003108	Hyperglycinuria
OMIM:201450	ACADM	34	HP:0001250	Seizures
OMIM:201450	ACADM	34	HP:0001942	Metabolic acidosis
OMIM:201450	ACADM	34	HP:0001259	Coma
OMIM:201450	ACADM	34	HP:0002240	Hepatomegaly
OMIM:201450	ACADM	34	HP:0001252	Muscular hypotonia
OMIM:201450	ACADM	34	HP:0001397	Hepatic steatosis
OMIM:201450	ACADM	34	HP:0002910	Elevated hepatic transaminases
OMIM:201450	ACADM	34	HP:0001254	Lethargy
OMIM:201450	ACADM	34	HP:0002013	Vomiting
ORPHANET:154	TPM1	7168	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	TPM1	7168	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	TPM1	7168	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	TPM1	7168	HP:0003198	Myopathy
ORPHANET:154	TPM1	7168	HP:0100578	Lipoatrophy
ORPHANET:154	TPM1	7168	HP:0003457	EMG abnormality
ORPHANET:154	TPM1	7168	HP:0001874	Abnormality of neutrophils
ORPHANET:154	CRYAB	1410	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	CRYAB	1410	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	CRYAB	1410	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	CRYAB	1410	HP:0003198	Myopathy
ORPHANET:154	CRYAB	1410	HP:0100578	Lipoatrophy
ORPHANET:154	CRYAB	1410	HP:0003457	EMG abnormality
ORPHANET:154	CRYAB	1410	HP:0001874	Abnormality of neutrophils
ORPHANET:154	ACTC1	70	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	ACTC1	70	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	ACTC1	70	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	ACTC1	70	HP:0003198	Myopathy
ORPHANET:154	ACTC1	70	HP:0100578	Lipoatrophy
ORPHANET:154	ACTC1	70	HP:0003457	EMG abnormality
ORPHANET:154	ACTC1	70	HP:0001874	Abnormality of neutrophils
ORPHANET:154	RAF1	5894	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	RAF1	5894	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	RAF1	5894	HP:0003198	Myopathy
ORPHANET:154	RAF1	5894	HP:0100578	Lipoatrophy
ORPHANET:154	RAF1	5894	HP:0003457	EMG abnormality
ORPHANET:154	RAF1	5894	HP:0001874	Abnormality of neutrophils
ORPHANET:154	GATAD1	57798	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	GATAD1	57798	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	GATAD1	57798	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	GATAD1	57798	HP:0003198	Myopathy
ORPHANET:154	GATAD1	57798	HP:0100578	Lipoatrophy
ORPHANET:154	GATAD1	57798	HP:0003457	EMG abnormality
ORPHANET:154	GATAD1	57798	HP:0001874	Abnormality of neutrophils
ORPHANET:154	LAMA4	3910	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	LAMA4	3910	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	LAMA4	3910	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	LAMA4	3910	HP:0003198	Myopathy
ORPHANET:154	LAMA4	3910	HP:0100578	Lipoatrophy
ORPHANET:154	LAMA4	3910	HP:0003457	EMG abnormality
ORPHANET:154	LAMA4	3910	HP:0001874	Abnormality of neutrophils
ORPHANET:154	TMPO	7112	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	TMPO	7112	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	TMPO	7112	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	TMPO	7112	HP:0003198	Myopathy
ORPHANET:154	TMPO	7112	HP:0100578	Lipoatrophy
ORPHANET:154	TMPO	7112	HP:0003457	EMG abnormality
ORPHANET:154	TMPO	7112	HP:0001874	Abnormality of neutrophils
ORPHANET:154	DES	1674	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	DES	1674	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	DES	1674	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	DES	1674	HP:0003198	Myopathy
ORPHANET:154	DES	1674	HP:0100578	Lipoatrophy
ORPHANET:154	DES	1674	HP:0003457	EMG abnormality
ORPHANET:154	DES	1674	HP:0001874	Abnormality of neutrophils
ORPHANET:154	ABCC9	10060	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	ABCC9	10060	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	ABCC9	10060	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	ABCC9	10060	HP:0003198	Myopathy
ORPHANET:154	ABCC9	10060	HP:0100578	Lipoatrophy
ORPHANET:154	ABCC9	10060	HP:0003457	EMG abnormality
ORPHANET:154	ABCC9	10060	HP:0001874	Abnormality of neutrophils
ORPHANET:154	MYH6	4624	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	MYH6	4624	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	MYH6	4624	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	MYH6	4624	HP:0003198	Myopathy
ORPHANET:154	MYH6	4624	HP:0100578	Lipoatrophy
ORPHANET:154	MYH6	4624	HP:0003457	EMG abnormality
ORPHANET:154	MYH6	4624	HP:0001874	Abnormality of neutrophils
ORPHANET:154	MYH7	4625	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	MYH7	4625	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	MYH7	4625	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	MYH7	4625	HP:0003198	Myopathy
ORPHANET:154	MYH7	4625	HP:0100578	Lipoatrophy
ORPHANET:154	MYH7	4625	HP:0003457	EMG abnormality
ORPHANET:154	MYH7	4625	HP:0001874	Abnormality of neutrophils
ORPHANET:154	LDB3	11155	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	LDB3	11155	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	LDB3	11155	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	LDB3	11155	HP:0003198	Myopathy
ORPHANET:154	LDB3	11155	HP:0100578	Lipoatrophy
ORPHANET:154	LDB3	11155	HP:0003457	EMG abnormality
ORPHANET:154	LDB3	11155	HP:0001874	Abnormality of neutrophils
ORPHANET:154	ACTN2	88	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	ACTN2	88	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	ACTN2	88	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	ACTN2	88	HP:0003198	Myopathy
ORPHANET:154	ACTN2	88	HP:0100578	Lipoatrophy
ORPHANET:154	ACTN2	88	HP:0003457	EMG abnormality
ORPHANET:154	ACTN2	88	HP:0001874	Abnormality of neutrophils
ORPHANET:154	TXNRD2	10587	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	TXNRD2	10587	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	TXNRD2	10587	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	TXNRD2	10587	HP:0003198	Myopathy
ORPHANET:154	TXNRD2	10587	HP:0100578	Lipoatrophy
ORPHANET:154	TXNRD2	10587	HP:0003457	EMG abnormality
ORPHANET:154	TXNRD2	10587	HP:0001874	Abnormality of neutrophils
ORPHANET:154	DMD	1756	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	DMD	1756	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	DMD	1756	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	DMD	1756	HP:0003198	Myopathy
ORPHANET:154	DMD	1756	HP:0100578	Lipoatrophy
ORPHANET:154	DMD	1756	HP:0003457	EMG abnormality
ORPHANET:154	DMD	1756	HP:0001874	Abnormality of neutrophils
ORPHANET:154	TNNC1	7134	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	TNNC1	7134	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	TNNC1	7134	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	TNNC1	7134	HP:0003198	Myopathy
ORPHANET:154	TNNC1	7134	HP:0100578	Lipoatrophy
ORPHANET:154	TNNC1	7134	HP:0003457	EMG abnormality
ORPHANET:154	TNNC1	7134	HP:0001874	Abnormality of neutrophils
ORPHANET:154	PSEN1	5663	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	PSEN1	5663	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	PSEN1	5663	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	PSEN1	5663	HP:0003198	Myopathy
ORPHANET:154	PSEN1	5663	HP:0100578	Lipoatrophy
ORPHANET:154	PSEN1	5663	HP:0003457	EMG abnormality
ORPHANET:154	PSEN1	5663	HP:0001874	Abnormality of neutrophils
ORPHANET:154	PSEN2	5664	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	PSEN2	5664	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	PSEN2	5664	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	PSEN2	5664	HP:0003198	Myopathy
ORPHANET:154	PSEN2	5664	HP:0100578	Lipoatrophy
ORPHANET:154	PSEN2	5664	HP:0003457	EMG abnormality
ORPHANET:154	PSEN2	5664	HP:0001874	Abnormality of neutrophils
ORPHANET:154	TNNI3	7137	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	TNNI3	7137	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	TNNI3	7137	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	TNNI3	7137	HP:0003198	Myopathy
ORPHANET:154	TNNI3	7137	HP:0100578	Lipoatrophy
ORPHANET:154	TNNI3	7137	HP:0003457	EMG abnormality
ORPHANET:154	TNNI3	7137	HP:0001874	Abnormality of neutrophils
ORPHANET:154	FHL2	2274	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	FHL2	2274	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	FHL2	2274	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	FHL2	2274	HP:0003198	Myopathy
ORPHANET:154	FHL2	2274	HP:0100578	Lipoatrophy
ORPHANET:154	FHL2	2274	HP:0003457	EMG abnormality
ORPHANET:154	FHL2	2274	HP:0001874	Abnormality of neutrophils
ORPHANET:154	TNNT2	7139	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	TNNT2	7139	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	TNNT2	7139	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	TNNT2	7139	HP:0003198	Myopathy
ORPHANET:154	TNNT2	7139	HP:0100578	Lipoatrophy
ORPHANET:154	TNNT2	7139	HP:0003457	EMG abnormality
ORPHANET:154	TNNT2	7139	HP:0001874	Abnormality of neutrophils
ORPHANET:154	DSG2	1829	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	DSG2	1829	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	DSG2	1829	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	DSG2	1829	HP:0003198	Myopathy
ORPHANET:154	DSG2	1829	HP:0100578	Lipoatrophy
ORPHANET:154	DSG2	1829	HP:0003457	EMG abnormality
ORPHANET:154	DSG2	1829	HP:0001874	Abnormality of neutrophils
ORPHANET:154	PLN	5350	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	PLN	5350	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	PLN	5350	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	PLN	5350	HP:0003198	Myopathy
ORPHANET:154	PLN	5350	HP:0100578	Lipoatrophy
ORPHANET:154	PLN	5350	HP:0003457	EMG abnormality
ORPHANET:154	PLN	5350	HP:0001874	Abnormality of neutrophils
ORPHANET:154	PRDM16	63976	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	PRDM16	63976	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	PRDM16	63976	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	PRDM16	63976	HP:0003198	Myopathy
ORPHANET:154	PRDM16	63976	HP:0100578	Lipoatrophy
ORPHANET:154	PRDM16	63976	HP:0003457	EMG abnormality
ORPHANET:154	PRDM16	63976	HP:0001874	Abnormality of neutrophils
ORPHANET:154	TTN	7273	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	TTN	7273	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	TTN	7273	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	TTN	7273	HP:0003198	Myopathy
ORPHANET:154	TTN	7273	HP:0100578	Lipoatrophy
ORPHANET:154	TTN	7273	HP:0003457	EMG abnormality
ORPHANET:154	TTN	7273	HP:0001874	Abnormality of neutrophils
ORPHANET:154	NEXN	91624	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	NEXN	91624	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	NEXN	91624	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	NEXN	91624	HP:0003198	Myopathy
ORPHANET:154	NEXN	91624	HP:0100578	Lipoatrophy
ORPHANET:154	NEXN	91624	HP:0003457	EMG abnormality
ORPHANET:154	NEXN	91624	HP:0001874	Abnormality of neutrophils
ORPHANET:154	FKTN	2218	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	FKTN	2218	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	FKTN	2218	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	FKTN	2218	HP:0003198	Myopathy
ORPHANET:154	FKTN	2218	HP:0100578	Lipoatrophy
ORPHANET:154	FKTN	2218	HP:0003457	EMG abnormality
ORPHANET:154	FKTN	2218	HP:0001874	Abnormality of neutrophils
ORPHANET:154	SGCD	6444	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	SGCD	6444	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	SGCD	6444	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	SGCD	6444	HP:0003198	Myopathy
ORPHANET:154	SGCD	6444	HP:0100578	Lipoatrophy
ORPHANET:154	SGCD	6444	HP:0003457	EMG abnormality
ORPHANET:154	SGCD	6444	HP:0001874	Abnormality of neutrophils
ORPHANET:154	TCAP	8557	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	TCAP	8557	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	TCAP	8557	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	TCAP	8557	HP:0003198	Myopathy
ORPHANET:154	TCAP	8557	HP:0100578	Lipoatrophy
ORPHANET:154	TCAP	8557	HP:0003457	EMG abnormality
ORPHANET:154	TCAP	8557	HP:0001874	Abnormality of neutrophils
ORPHANET:154	CSRP3	8048	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	CSRP3	8048	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	CSRP3	8048	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	CSRP3	8048	HP:0003198	Myopathy
ORPHANET:154	CSRP3	8048	HP:0100578	Lipoatrophy
ORPHANET:154	CSRP3	8048	HP:0003457	EMG abnormality
ORPHANET:154	CSRP3	8048	HP:0001874	Abnormality of neutrophils
ORPHANET:154	RBM20	282996	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	RBM20	282996	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	RBM20	282996	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	RBM20	282996	HP:0003198	Myopathy
ORPHANET:154	RBM20	282996	HP:0100578	Lipoatrophy
ORPHANET:154	RBM20	282996	HP:0003457	EMG abnormality
ORPHANET:154	RBM20	282996	HP:0001874	Abnormality of neutrophils
ORPHANET:154	SDHA	6389	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	SDHA	6389	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	SDHA	6389	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	SDHA	6389	HP:0003198	Myopathy
ORPHANET:154	SDHA	6389	HP:0100578	Lipoatrophy
ORPHANET:154	SDHA	6389	HP:0003457	EMG abnormality
ORPHANET:154	SDHA	6389	HP:0001874	Abnormality of neutrophils
ORPHANET:154	TAZ	6901	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	TAZ	6901	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	TAZ	6901	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	TAZ	6901	HP:0003198	Myopathy
ORPHANET:154	TAZ	6901	HP:0100578	Lipoatrophy
ORPHANET:154	TAZ	6901	HP:0003457	EMG abnormality
ORPHANET:154	TAZ	6901	HP:0001874	Abnormality of neutrophils
ORPHANET:154	VCL	7414	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	VCL	7414	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	VCL	7414	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	VCL	7414	HP:0003198	Myopathy
ORPHANET:154	VCL	7414	HP:0100578	Lipoatrophy
ORPHANET:154	VCL	7414	HP:0003457	EMG abnormality
ORPHANET:154	VCL	7414	HP:0001874	Abnormality of neutrophils
ORPHANET:154	MYPN	84665	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	MYPN	84665	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	MYPN	84665	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	MYPN	84665	HP:0003198	Myopathy
ORPHANET:154	MYPN	84665	HP:0100578	Lipoatrophy
ORPHANET:154	MYPN	84665	HP:0003457	EMG abnormality
ORPHANET:154	MYPN	84665	HP:0001874	Abnormality of neutrophils
ORPHANET:154	SCN5A	6331	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	SCN5A	6331	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	SCN5A	6331	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	SCN5A	6331	HP:0003198	Myopathy
ORPHANET:154	SCN5A	6331	HP:0100578	Lipoatrophy
ORPHANET:154	SCN5A	6331	HP:0003457	EMG abnormality
ORPHANET:154	SCN5A	6331	HP:0001874	Abnormality of neutrophils
ORPHANET:154	BAG3	9531	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	BAG3	9531	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	BAG3	9531	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	BAG3	9531	HP:0003198	Myopathy
ORPHANET:154	BAG3	9531	HP:0100578	Lipoatrophy
ORPHANET:154	BAG3	9531	HP:0003457	EMG abnormality
ORPHANET:154	BAG3	9531	HP:0001874	Abnormality of neutrophils
ORPHANET:154	DOLK	22845	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	DOLK	22845	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	DOLK	22845	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	DOLK	22845	HP:0003198	Myopathy
ORPHANET:154	DOLK	22845	HP:0100578	Lipoatrophy
ORPHANET:154	DOLK	22845	HP:0003457	EMG abnormality
ORPHANET:154	DOLK	22845	HP:0001874	Abnormality of neutrophils
ORPHANET:154	MYBPC3	4607	HP:0000982	Palmoplantar keratoderma
ORPHANET:154	MYBPC3	4607	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:154	MYBPC3	4607	HP:0000407	Sensorineural hearing impairment
ORPHANET:154	MYBPC3	4607	HP:0003198	Myopathy
ORPHANET:154	MYBPC3	4607	HP:0100578	Lipoatrophy
ORPHANET:154	MYBPC3	4607	HP:0003457	EMG abnormality
ORPHANET:154	MYBPC3	4607	HP:0001874	Abnormality of neutrophils
OMIM:207950	FUZ	80199	HP:0000238	Hydrocephalus
OMIM:207950	FUZ	80199	HP:0002282	Heterotopia
OMIM:207950	FUZ	80199	HP:0001274	Agenesis of corpus callosum
OMIM:207950	FUZ	80199	HP:0002015	Dysphagia
OMIM:207950	FUZ	80199	HP:0001252	Muscular hypotonia
OMIM:207950	FUZ	80199	HP:0002179	Opisthotonus
OMIM:207950	FUZ	80199	HP:0001426	Multifactorial inheritance
OMIM:207950	FUZ	80199	HP:0002308	Arnold-Chiari malformation
OMIM:207950	FUZ	80199	HP:0002483	Bulbar signs
OMIM:207950	FUZ	80199	HP:0000961	Cyanosis
OMIM:207950	FUZ	80199	HP:0001251	Ataxia
OMIM:207950	FUZ	80199	HP:0002414	Spina bifida
OMIM:207950	FUZ	80199	HP:0000639	Nystagmus
OMIM:207950	FUZ	80199	HP:0003690	Limb muscle weakness
OMIM:207950	FUZ	80199	HP:0011968	Feeding difficulties
OMIM:266150	PC	5091	HP:0001252	Muscular hypotonia
OMIM:266150	PC	5091	HP:0002240	Hepatomegaly
OMIM:266150	PC	5091	HP:0002151	Increased serum lactate
OMIM:266150	PC	5091	HP:0003577	Congenital onset
OMIM:266150	PC	5091	HP:0001249	Intellectual disability
OMIM:266150	PC	5091	HP:0001943	Hypoglycemia
OMIM:266150	PC	5091	HP:0000007	Autosomal recessive inheritance
OMIM:266150	PC	5091	HP:0001250	Seizures
OMIM:266150	PC	5091	HP:0003128	Lactic acidosis
OMIM:266150	PC	5091	HP:0001263	Global developmental delay
OMIM:266150	PC	5091	HP:0002169	Clonus
OMIM:266150	PC	5091	HP:0003542	Increased serum pyruvate
OMIM:144650	APOA5	116519	HP:0000006	Autosomal dominant inheritance
OMIM:144650	APOA5	116519	HP:0003233	Hypoalphalipoproteinemia
OMIM:144650	APOA5	116519	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:144650	APOA5	116519	HP:0012238	Hyperchylomicronemia
OMIM:144650	APOA5	116519	HP:0003563	Hypobetalipoproteinemia
OMIM:144650	LPL	4023	HP:0000006	Autosomal dominant inheritance
OMIM:144650	LPL	4023	HP:0003233	Hypoalphalipoproteinemia
OMIM:144650	LPL	4023	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:144650	LPL	4023	HP:0012238	Hyperchylomicronemia
OMIM:144650	LPL	4023	HP:0003563	Hypobetalipoproteinemia
OMIM:144650	CREB3L3	84699	HP:0000006	Autosomal dominant inheritance
OMIM:144650	CREB3L3	84699	HP:0003233	Hypoalphalipoproteinemia
OMIM:144650	CREB3L3	84699	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:144650	CREB3L3	84699	HP:0012238	Hyperchylomicronemia
OMIM:144650	CREB3L3	84699	HP:0003563	Hypobetalipoproteinemia
OMIM:144650	GPIHBP1	338328	HP:0000006	Autosomal dominant inheritance
OMIM:144650	GPIHBP1	338328	HP:0003233	Hypoalphalipoproteinemia
OMIM:144650	GPIHBP1	338328	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:144650	GPIHBP1	338328	HP:0012238	Hyperchylomicronemia
OMIM:144650	GPIHBP1	338328	HP:0003563	Hypobetalipoproteinemia
ORPHANET:144	PMS1	5378	HP:0100615	Ovarian neoplasm
ORPHANET:144	PMS1	5378	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	PMS1	5378	HP:0009726	Renal neoplasm
ORPHANET:144	PMS1	5378	HP:0001824	Weight loss
ORPHANET:144	PMS1	5378	HP:0001903	Anemia
ORPHANET:144	PMS1	5378	HP:0006753	Neoplasm of the stomach
ORPHANET:144	PMS1	5378	HP:0100743	Neoplasm of the rectum
ORPHANET:144	PMS1	5378	HP:0002240	Hepatomegaly
ORPHANET:144	PMS1	5378	HP:0002017	Nausea and vomiting
ORPHANET:144	PMS1	5378	HP:0002024	Malabsorption
ORPHANET:144	PMS1	5378	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	PMS1	5378	HP:0005214	Intestinal obstruction
ORPHANET:144	PMS1	5378	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	PMS1	5378	HP:0001541	Ascites
ORPHANET:144	PMS1	5378	HP:0002019	Constipation
ORPHANET:144	PMS1	5378	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	PMS1	5378	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	PMS1	5378	HP:0100273	Neoplasm of the colon
ORPHANET:144	MLH1	4292	HP:0100615	Ovarian neoplasm
ORPHANET:144	MLH1	4292	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	MLH1	4292	HP:0009726	Renal neoplasm
ORPHANET:144	MLH1	4292	HP:0001824	Weight loss
ORPHANET:144	MLH1	4292	HP:0001903	Anemia
ORPHANET:144	MLH1	4292	HP:0006753	Neoplasm of the stomach
ORPHANET:144	MLH1	4292	HP:0100743	Neoplasm of the rectum
ORPHANET:144	MLH1	4292	HP:0002240	Hepatomegaly
ORPHANET:144	MLH1	4292	HP:0002017	Nausea and vomiting
ORPHANET:144	MLH1	4292	HP:0002024	Malabsorption
ORPHANET:144	MLH1	4292	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	MLH1	4292	HP:0005214	Intestinal obstruction
ORPHANET:144	MLH1	4292	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	MLH1	4292	HP:0001541	Ascites
ORPHANET:144	MLH1	4292	HP:0002019	Constipation
ORPHANET:144	MLH1	4292	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	MLH1	4292	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	MLH1	4292	HP:0100273	Neoplasm of the colon
ORPHANET:144	KRAS	3845	HP:0100615	Ovarian neoplasm
ORPHANET:144	KRAS	3845	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	KRAS	3845	HP:0009726	Renal neoplasm
ORPHANET:144	KRAS	3845	HP:0001824	Weight loss
ORPHANET:144	KRAS	3845	HP:0001903	Anemia
ORPHANET:144	KRAS	3845	HP:0006753	Neoplasm of the stomach
ORPHANET:144	KRAS	3845	HP:0100743	Neoplasm of the rectum
ORPHANET:144	KRAS	3845	HP:0002240	Hepatomegaly
ORPHANET:144	KRAS	3845	HP:0002017	Nausea and vomiting
ORPHANET:144	KRAS	3845	HP:0002024	Malabsorption
ORPHANET:144	KRAS	3845	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	KRAS	3845	HP:0005214	Intestinal obstruction
ORPHANET:144	KRAS	3845	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	KRAS	3845	HP:0001541	Ascites
ORPHANET:144	KRAS	3845	HP:0002019	Constipation
ORPHANET:144	KRAS	3845	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	KRAS	3845	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	KRAS	3845	HP:0100273	Neoplasm of the colon
ORPHANET:144	TGFBR2	7048	HP:0100615	Ovarian neoplasm
ORPHANET:144	TGFBR2	7048	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	TGFBR2	7048	HP:0009726	Renal neoplasm
ORPHANET:144	TGFBR2	7048	HP:0001824	Weight loss
ORPHANET:144	TGFBR2	7048	HP:0001903	Anemia
ORPHANET:144	TGFBR2	7048	HP:0006753	Neoplasm of the stomach
ORPHANET:144	TGFBR2	7048	HP:0100743	Neoplasm of the rectum
ORPHANET:144	TGFBR2	7048	HP:0002240	Hepatomegaly
ORPHANET:144	TGFBR2	7048	HP:0002017	Nausea and vomiting
ORPHANET:144	TGFBR2	7048	HP:0002024	Malabsorption
ORPHANET:144	TGFBR2	7048	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	TGFBR2	7048	HP:0005214	Intestinal obstruction
ORPHANET:144	TGFBR2	7048	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	TGFBR2	7048	HP:0001541	Ascites
ORPHANET:144	TGFBR2	7048	HP:0002019	Constipation
ORPHANET:144	TGFBR2	7048	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	TGFBR2	7048	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	TGFBR2	7048	HP:0100273	Neoplasm of the colon
ORPHANET:144	EPCAM	4072	HP:0100615	Ovarian neoplasm
ORPHANET:144	EPCAM	4072	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	EPCAM	4072	HP:0009726	Renal neoplasm
ORPHANET:144	EPCAM	4072	HP:0001824	Weight loss
ORPHANET:144	EPCAM	4072	HP:0001903	Anemia
ORPHANET:144	EPCAM	4072	HP:0006753	Neoplasm of the stomach
ORPHANET:144	EPCAM	4072	HP:0100743	Neoplasm of the rectum
ORPHANET:144	EPCAM	4072	HP:0002240	Hepatomegaly
ORPHANET:144	EPCAM	4072	HP:0002017	Nausea and vomiting
ORPHANET:144	EPCAM	4072	HP:0002024	Malabsorption
ORPHANET:144	EPCAM	4072	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	EPCAM	4072	HP:0005214	Intestinal obstruction
ORPHANET:144	EPCAM	4072	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	EPCAM	4072	HP:0001541	Ascites
ORPHANET:144	EPCAM	4072	HP:0002019	Constipation
ORPHANET:144	EPCAM	4072	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	EPCAM	4072	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	EPCAM	4072	HP:0100273	Neoplasm of the colon
ORPHANET:144	PIK3CA	5290	HP:0100615	Ovarian neoplasm
ORPHANET:144	PIK3CA	5290	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	PIK3CA	5290	HP:0009726	Renal neoplasm
ORPHANET:144	PIK3CA	5290	HP:0001824	Weight loss
ORPHANET:144	PIK3CA	5290	HP:0001903	Anemia
ORPHANET:144	PIK3CA	5290	HP:0006753	Neoplasm of the stomach
ORPHANET:144	PIK3CA	5290	HP:0100743	Neoplasm of the rectum
ORPHANET:144	PIK3CA	5290	HP:0002240	Hepatomegaly
ORPHANET:144	PIK3CA	5290	HP:0002017	Nausea and vomiting
ORPHANET:144	PIK3CA	5290	HP:0002024	Malabsorption
ORPHANET:144	PIK3CA	5290	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	PIK3CA	5290	HP:0005214	Intestinal obstruction
ORPHANET:144	PIK3CA	5290	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	PIK3CA	5290	HP:0001541	Ascites
ORPHANET:144	PIK3CA	5290	HP:0002019	Constipation
ORPHANET:144	PIK3CA	5290	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	PIK3CA	5290	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	PIK3CA	5290	HP:0100273	Neoplasm of the colon
ORPHANET:144	MSH6	2956	HP:0100615	Ovarian neoplasm
ORPHANET:144	MSH6	2956	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	MSH6	2956	HP:0009726	Renal neoplasm
ORPHANET:144	MSH6	2956	HP:0001824	Weight loss
ORPHANET:144	MSH6	2956	HP:0001903	Anemia
ORPHANET:144	MSH6	2956	HP:0006753	Neoplasm of the stomach
ORPHANET:144	MSH6	2956	HP:0100743	Neoplasm of the rectum
ORPHANET:144	MSH6	2956	HP:0002240	Hepatomegaly
ORPHANET:144	MSH6	2956	HP:0002017	Nausea and vomiting
ORPHANET:144	MSH6	2956	HP:0002024	Malabsorption
ORPHANET:144	MSH6	2956	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	MSH6	2956	HP:0005214	Intestinal obstruction
ORPHANET:144	MSH6	2956	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	MSH6	2956	HP:0001541	Ascites
ORPHANET:144	MSH6	2956	HP:0002019	Constipation
ORPHANET:144	MSH6	2956	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	MSH6	2956	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	MSH6	2956	HP:0100273	Neoplasm of the colon
ORPHANET:144	RPS20	6224	HP:0100615	Ovarian neoplasm
ORPHANET:144	RPS20	6224	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	RPS20	6224	HP:0009726	Renal neoplasm
ORPHANET:144	RPS20	6224	HP:0001824	Weight loss
ORPHANET:144	RPS20	6224	HP:0001903	Anemia
ORPHANET:144	RPS20	6224	HP:0006753	Neoplasm of the stomach
ORPHANET:144	RPS20	6224	HP:0100743	Neoplasm of the rectum
ORPHANET:144	RPS20	6224	HP:0002240	Hepatomegaly
ORPHANET:144	RPS20	6224	HP:0002017	Nausea and vomiting
ORPHANET:144	RPS20	6224	HP:0002024	Malabsorption
ORPHANET:144	RPS20	6224	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	RPS20	6224	HP:0005214	Intestinal obstruction
ORPHANET:144	RPS20	6224	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	RPS20	6224	HP:0001541	Ascites
ORPHANET:144	RPS20	6224	HP:0002019	Constipation
ORPHANET:144	RPS20	6224	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	RPS20	6224	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	RPS20	6224	HP:0100273	Neoplasm of the colon
ORPHANET:144	BMPR1A	657	HP:0100615	Ovarian neoplasm
ORPHANET:144	BMPR1A	657	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	BMPR1A	657	HP:0009726	Renal neoplasm
ORPHANET:144	BMPR1A	657	HP:0001824	Weight loss
ORPHANET:144	BMPR1A	657	HP:0001903	Anemia
ORPHANET:144	BMPR1A	657	HP:0006753	Neoplasm of the stomach
ORPHANET:144	BMPR1A	657	HP:0100743	Neoplasm of the rectum
ORPHANET:144	BMPR1A	657	HP:0002240	Hepatomegaly
ORPHANET:144	BMPR1A	657	HP:0002017	Nausea and vomiting
ORPHANET:144	BMPR1A	657	HP:0002024	Malabsorption
ORPHANET:144	BMPR1A	657	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	BMPR1A	657	HP:0005214	Intestinal obstruction
ORPHANET:144	BMPR1A	657	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	BMPR1A	657	HP:0001541	Ascites
ORPHANET:144	BMPR1A	657	HP:0002019	Constipation
ORPHANET:144	BMPR1A	657	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	BMPR1A	657	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	BMPR1A	657	HP:0100273	Neoplasm of the colon
ORPHANET:144	PMS2	5395	HP:0100615	Ovarian neoplasm
ORPHANET:144	PMS2	5395	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	PMS2	5395	HP:0009726	Renal neoplasm
ORPHANET:144	PMS2	5395	HP:0001824	Weight loss
ORPHANET:144	PMS2	5395	HP:0001903	Anemia
ORPHANET:144	PMS2	5395	HP:0006753	Neoplasm of the stomach
ORPHANET:144	PMS2	5395	HP:0100743	Neoplasm of the rectum
ORPHANET:144	PMS2	5395	HP:0002240	Hepatomegaly
ORPHANET:144	PMS2	5395	HP:0002017	Nausea and vomiting
ORPHANET:144	PMS2	5395	HP:0002024	Malabsorption
ORPHANET:144	PMS2	5395	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	PMS2	5395	HP:0005214	Intestinal obstruction
ORPHANET:144	PMS2	5395	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	PMS2	5395	HP:0001541	Ascites
ORPHANET:144	PMS2	5395	HP:0002019	Constipation
ORPHANET:144	PMS2	5395	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	PMS2	5395	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	PMS2	5395	HP:0100273	Neoplasm of the colon
ORPHANET:144	MSH2	4436	HP:0100615	Ovarian neoplasm
ORPHANET:144	MSH2	4436	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	MSH2	4436	HP:0009726	Renal neoplasm
ORPHANET:144	MSH2	4436	HP:0001824	Weight loss
ORPHANET:144	MSH2	4436	HP:0001903	Anemia
ORPHANET:144	MSH2	4436	HP:0006753	Neoplasm of the stomach
ORPHANET:144	MSH2	4436	HP:0100743	Neoplasm of the rectum
ORPHANET:144	MSH2	4436	HP:0002240	Hepatomegaly
ORPHANET:144	MSH2	4436	HP:0002017	Nausea and vomiting
ORPHANET:144	MSH2	4436	HP:0002024	Malabsorption
ORPHANET:144	MSH2	4436	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	MSH2	4436	HP:0005214	Intestinal obstruction
ORPHANET:144	MSH2	4436	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	MSH2	4436	HP:0001541	Ascites
ORPHANET:144	MSH2	4436	HP:0002019	Constipation
ORPHANET:144	MSH2	4436	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	MSH2	4436	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	MSH2	4436	HP:0100273	Neoplasm of the colon
ORPHANET:144	MLH3	27030	HP:0100615	Ovarian neoplasm
ORPHANET:144	MLH3	27030	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	MLH3	27030	HP:0009726	Renal neoplasm
ORPHANET:144	MLH3	27030	HP:0001824	Weight loss
ORPHANET:144	MLH3	27030	HP:0001903	Anemia
ORPHANET:144	MLH3	27030	HP:0006753	Neoplasm of the stomach
ORPHANET:144	MLH3	27030	HP:0100743	Neoplasm of the rectum
ORPHANET:144	MLH3	27030	HP:0002240	Hepatomegaly
ORPHANET:144	MLH3	27030	HP:0002017	Nausea and vomiting
ORPHANET:144	MLH3	27030	HP:0002024	Malabsorption
ORPHANET:144	MLH3	27030	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	MLH3	27030	HP:0005214	Intestinal obstruction
ORPHANET:144	MLH3	27030	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	MLH3	27030	HP:0001541	Ascites
ORPHANET:144	MLH3	27030	HP:0002019	Constipation
ORPHANET:144	MLH3	27030	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	MLH3	27030	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	MLH3	27030	HP:0100273	Neoplasm of the colon
ORPHANET:144	LRRFIP2	9209	HP:0100615	Ovarian neoplasm
ORPHANET:144	LRRFIP2	9209	HP:0002894	Neoplasm of the pancreas
ORPHANET:144	LRRFIP2	9209	HP:0009726	Renal neoplasm
ORPHANET:144	LRRFIP2	9209	HP:0001824	Weight loss
ORPHANET:144	LRRFIP2	9209	HP:0001903	Anemia
ORPHANET:144	LRRFIP2	9209	HP:0006753	Neoplasm of the stomach
ORPHANET:144	LRRFIP2	9209	HP:0100743	Neoplasm of the rectum
ORPHANET:144	LRRFIP2	9209	HP:0002240	Hepatomegaly
ORPHANET:144	LRRFIP2	9209	HP:0002017	Nausea and vomiting
ORPHANET:144	LRRFIP2	9209	HP:0002024	Malabsorption
ORPHANET:144	LRRFIP2	9209	HP:0100833	Neoplasm of the small intestine
ORPHANET:144	LRRFIP2	9209	HP:0005214	Intestinal obstruction
ORPHANET:144	LRRFIP2	9209	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:144	LRRFIP2	9209	HP:0001541	Ascites
ORPHANET:144	LRRFIP2	9209	HP:0002019	Constipation
ORPHANET:144	LRRFIP2	9209	HP:0000010	Recurrent urinary tract infections
ORPHANET:144	LRRFIP2	9209	HP:0004375	Neoplasm of the nervous system
ORPHANET:144	LRRFIP2	9209	HP:0100273	Neoplasm of the colon
OMIM:300919	ZNF711	7552	HP:0011304	Broad thumb
OMIM:300919	ZNF711	7552	HP:0001263	Global developmental delay
OMIM:300919	ZNF711	7552	HP:0000718	Aggressive behavior
OMIM:300919	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300919	ZNF711	7552	HP:0004322	Short stature
OMIM:300919	ZNF711	7552	HP:0011220	Prominent forehead
OMIM:300919	ZNF711	7552	HP:0001252	Muscular hypotonia
OMIM:300919	IL1RAPL1	11141	HP:0011304	Broad thumb
OMIM:300919	IL1RAPL1	11141	HP:0001263	Global developmental delay
OMIM:300919	IL1RAPL1	11141	HP:0000718	Aggressive behavior
OMIM:300919	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300919	IL1RAPL1	11141	HP:0004322	Short stature
OMIM:300919	IL1RAPL1	11141	HP:0011220	Prominent forehead
OMIM:300919	IL1RAPL1	11141	HP:0001252	Muscular hypotonia
OMIM:300919	ACSL4	2182	HP:0011304	Broad thumb
OMIM:300919	ACSL4	2182	HP:0001263	Global developmental delay
OMIM:300919	ACSL4	2182	HP:0000718	Aggressive behavior
OMIM:300919	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300919	ACSL4	2182	HP:0004322	Short stature
OMIM:300919	ACSL4	2182	HP:0011220	Prominent forehead
OMIM:300919	ACSL4	2182	HP:0001252	Muscular hypotonia
OMIM:300919	PAK3	5063	HP:0011304	Broad thumb
OMIM:300919	PAK3	5063	HP:0001263	Global developmental delay
OMIM:300919	PAK3	5063	HP:0000718	Aggressive behavior
OMIM:300919	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300919	PAK3	5063	HP:0004322	Short stature
OMIM:300919	PAK3	5063	HP:0011220	Prominent forehead
OMIM:300919	PAK3	5063	HP:0001252	Muscular hypotonia
OMIM:300919	SYP	6855	HP:0011304	Broad thumb
OMIM:300919	SYP	6855	HP:0001263	Global developmental delay
OMIM:300919	SYP	6855	HP:0000718	Aggressive behavior
OMIM:300919	SYP	6855	HP:0001249	Intellectual disability
OMIM:300919	SYP	6855	HP:0004322	Short stature
OMIM:300919	SYP	6855	HP:0011220	Prominent forehead
OMIM:300919	SYP	6855	HP:0001252	Muscular hypotonia
OMIM:300919	FTSJ1	24140	HP:0011304	Broad thumb
OMIM:300919	FTSJ1	24140	HP:0001263	Global developmental delay
OMIM:300919	FTSJ1	24140	HP:0000718	Aggressive behavior
OMIM:300919	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300919	FTSJ1	24140	HP:0004322	Short stature
OMIM:300919	FTSJ1	24140	HP:0011220	Prominent forehead
OMIM:300919	FTSJ1	24140	HP:0001252	Muscular hypotonia
OMIM:300919	DLG3	1741	HP:0011304	Broad thumb
OMIM:300919	DLG3	1741	HP:0001263	Global developmental delay
OMIM:300919	DLG3	1741	HP:0000718	Aggressive behavior
OMIM:300919	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300919	DLG3	1741	HP:0004322	Short stature
OMIM:300919	DLG3	1741	HP:0011220	Prominent forehead
OMIM:300919	DLG3	1741	HP:0001252	Muscular hypotonia
OMIM:300919	PTCHD1	139411	HP:0011304	Broad thumb
OMIM:300919	PTCHD1	139411	HP:0001263	Global developmental delay
OMIM:300919	PTCHD1	139411	HP:0000718	Aggressive behavior
OMIM:300919	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300919	PTCHD1	139411	HP:0004322	Short stature
OMIM:300919	PTCHD1	139411	HP:0011220	Prominent forehead
OMIM:300919	PTCHD1	139411	HP:0001252	Muscular hypotonia
OMIM:300919	UPF3B	65109	HP:0011304	Broad thumb
OMIM:300919	UPF3B	65109	HP:0001263	Global developmental delay
OMIM:300919	UPF3B	65109	HP:0000718	Aggressive behavior
OMIM:300919	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300919	UPF3B	65109	HP:0004322	Short stature
OMIM:300919	UPF3B	65109	HP:0011220	Prominent forehead
OMIM:300919	UPF3B	65109	HP:0001252	Muscular hypotonia
OMIM:300919	ZNF81	347344	HP:0011304	Broad thumb
OMIM:300919	ZNF81	347344	HP:0001263	Global developmental delay
OMIM:300919	ZNF81	347344	HP:0000718	Aggressive behavior
OMIM:300919	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300919	ZNF81	347344	HP:0004322	Short stature
OMIM:300919	ZNF81	347344	HP:0011220	Prominent forehead
OMIM:300919	ZNF81	347344	HP:0001252	Muscular hypotonia
OMIM:300919	RAB39B	116442	HP:0011304	Broad thumb
OMIM:300919	RAB39B	116442	HP:0001263	Global developmental delay
OMIM:300919	RAB39B	116442	HP:0000718	Aggressive behavior
OMIM:300919	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300919	RAB39B	116442	HP:0004322	Short stature
OMIM:300919	RAB39B	116442	HP:0011220	Prominent forehead
OMIM:300919	RAB39B	116442	HP:0001252	Muscular hypotonia
OMIM:300919	DMD	1756	HP:0011304	Broad thumb
OMIM:300919	DMD	1756	HP:0001263	Global developmental delay
OMIM:300919	DMD	1756	HP:0000718	Aggressive behavior
OMIM:300919	DMD	1756	HP:0001249	Intellectual disability
OMIM:300919	DMD	1756	HP:0004322	Short stature
OMIM:300919	DMD	1756	HP:0011220	Prominent forehead
OMIM:300919	DMD	1756	HP:0001252	Muscular hypotonia
OMIM:300919	MAGT1	84061	HP:0011304	Broad thumb
OMIM:300919	MAGT1	84061	HP:0001263	Global developmental delay
OMIM:300919	MAGT1	84061	HP:0000718	Aggressive behavior
OMIM:300919	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300919	MAGT1	84061	HP:0004322	Short stature
OMIM:300919	MAGT1	84061	HP:0011220	Prominent forehead
OMIM:300919	MAGT1	84061	HP:0001252	Muscular hypotonia
OMIM:300919	MID2	11043	HP:0011304	Broad thumb
OMIM:300919	MID2	11043	HP:0001263	Global developmental delay
OMIM:300919	MID2	11043	HP:0000718	Aggressive behavior
OMIM:300919	MID2	11043	HP:0001249	Intellectual disability
OMIM:300919	MID2	11043	HP:0004322	Short stature
OMIM:300919	MID2	11043	HP:0011220	Prominent forehead
OMIM:300919	MID2	11043	HP:0001252	Muscular hypotonia
OMIM:300919	GDI1	2664	HP:0011304	Broad thumb
OMIM:300919	GDI1	2664	HP:0001263	Global developmental delay
OMIM:300919	GDI1	2664	HP:0000718	Aggressive behavior
OMIM:300919	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300919	GDI1	2664	HP:0004322	Short stature
OMIM:300919	GDI1	2664	HP:0011220	Prominent forehead
OMIM:300919	GDI1	2664	HP:0001252	Muscular hypotonia
OMIM:300919	ZNF41	7592	HP:0011304	Broad thumb
OMIM:300919	ZNF41	7592	HP:0001263	Global developmental delay
OMIM:300919	ZNF41	7592	HP:0000718	Aggressive behavior
OMIM:300919	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300919	ZNF41	7592	HP:0004322	Short stature
OMIM:300919	ZNF41	7592	HP:0011220	Prominent forehead
OMIM:300919	ZNF41	7592	HP:0001252	Muscular hypotonia
OMIM:300919	MECP2	4204	HP:0011304	Broad thumb
OMIM:300919	MECP2	4204	HP:0001263	Global developmental delay
OMIM:300919	MECP2	4204	HP:0000718	Aggressive behavior
OMIM:300919	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300919	MECP2	4204	HP:0004322	Short stature
OMIM:300919	MECP2	4204	HP:0011220	Prominent forehead
OMIM:300919	MECP2	4204	HP:0001252	Muscular hypotonia
OMIM:300919	HCFC1	3054	HP:0011304	Broad thumb
OMIM:300919	HCFC1	3054	HP:0001263	Global developmental delay
OMIM:300919	HCFC1	3054	HP:0000718	Aggressive behavior
OMIM:300919	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300919	HCFC1	3054	HP:0004322	Short stature
OMIM:300919	HCFC1	3054	HP:0011220	Prominent forehead
OMIM:300919	HCFC1	3054	HP:0001252	Muscular hypotonia
OMIM:300919	USP9X	8239	HP:0011304	Broad thumb
OMIM:300919	USP9X	8239	HP:0001263	Global developmental delay
OMIM:300919	USP9X	8239	HP:0000718	Aggressive behavior
OMIM:300919	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300919	USP9X	8239	HP:0004322	Short stature
OMIM:300919	USP9X	8239	HP:0011220	Prominent forehead
OMIM:300919	USP9X	8239	HP:0001252	Muscular hypotonia
OMIM:300919	MED12	9968	HP:0011304	Broad thumb
OMIM:300919	MED12	9968	HP:0001263	Global developmental delay
OMIM:300919	MED12	9968	HP:0000718	Aggressive behavior
OMIM:300919	MED12	9968	HP:0001249	Intellectual disability
OMIM:300919	MED12	9968	HP:0004322	Short stature
OMIM:300919	MED12	9968	HP:0011220	Prominent forehead
OMIM:300919	MED12	9968	HP:0001252	Muscular hypotonia
OMIM:300919	ZNF674	641339	HP:0011304	Broad thumb
OMIM:300919	ZNF674	641339	HP:0001263	Global developmental delay
OMIM:300919	ZNF674	641339	HP:0000718	Aggressive behavior
OMIM:300919	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300919	ZNF674	641339	HP:0004322	Short stature
OMIM:300919	ZNF674	641339	HP:0011220	Prominent forehead
OMIM:300919	ZNF674	641339	HP:0001252	Muscular hypotonia
OMIM:300919	ARHGEF6	9459	HP:0011304	Broad thumb
OMIM:300919	ARHGEF6	9459	HP:0001263	Global developmental delay
OMIM:300919	ARHGEF6	9459	HP:0000718	Aggressive behavior
OMIM:300919	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300919	ARHGEF6	9459	HP:0004322	Short stature
OMIM:300919	ARHGEF6	9459	HP:0011220	Prominent forehead
OMIM:300919	ARHGEF6	9459	HP:0001252	Muscular hypotonia
OMIM:300919	RPS6KA3	6197	HP:0011304	Broad thumb
OMIM:300919	RPS6KA3	6197	HP:0001263	Global developmental delay
OMIM:300919	RPS6KA3	6197	HP:0000718	Aggressive behavior
OMIM:300919	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300919	RPS6KA3	6197	HP:0004322	Short stature
OMIM:300919	RPS6KA3	6197	HP:0011220	Prominent forehead
OMIM:300919	RPS6KA3	6197	HP:0001252	Muscular hypotonia
OMIM:300919	IQSEC2	23096	HP:0011304	Broad thumb
OMIM:300919	IQSEC2	23096	HP:0001263	Global developmental delay
OMIM:300919	IQSEC2	23096	HP:0000718	Aggressive behavior
OMIM:300919	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300919	IQSEC2	23096	HP:0004322	Short stature
OMIM:300919	IQSEC2	23096	HP:0011220	Prominent forehead
OMIM:300919	IQSEC2	23096	HP:0001252	Muscular hypotonia
OMIM:300919	AGTR2	186	HP:0011304	Broad thumb
OMIM:300919	AGTR2	186	HP:0001263	Global developmental delay
OMIM:300919	AGTR2	186	HP:0000718	Aggressive behavior
OMIM:300919	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300919	AGTR2	186	HP:0004322	Short stature
OMIM:300919	AGTR2	186	HP:0011220	Prominent forehead
OMIM:300919	AGTR2	186	HP:0001252	Muscular hypotonia
OMIM:300919	ARX	170302	HP:0011304	Broad thumb
OMIM:300919	ARX	170302	HP:0001263	Global developmental delay
OMIM:300919	ARX	170302	HP:0000718	Aggressive behavior
OMIM:300919	ARX	170302	HP:0001249	Intellectual disability
OMIM:300919	ARX	170302	HP:0004322	Short stature
OMIM:300919	ARX	170302	HP:0011220	Prominent forehead
OMIM:300919	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:300919	ALG13	79868	HP:0011304	Broad thumb
OMIM:300919	ALG13	79868	HP:0001263	Global developmental delay
OMIM:300919	ALG13	79868	HP:0000718	Aggressive behavior
OMIM:300919	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300919	ALG13	79868	HP:0004322	Short stature
OMIM:300919	ALG13	79868	HP:0011220	Prominent forehead
OMIM:300919	ALG13	79868	HP:0001252	Muscular hypotonia
OMIM:300919	TSPAN7	7102	HP:0011304	Broad thumb
OMIM:300919	TSPAN7	7102	HP:0001263	Global developmental delay
OMIM:300919	TSPAN7	7102	HP:0000718	Aggressive behavior
OMIM:300919	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300919	TSPAN7	7102	HP:0004322	Short stature
OMIM:300919	TSPAN7	7102	HP:0011220	Prominent forehead
OMIM:300919	TSPAN7	7102	HP:0001252	Muscular hypotonia
OMIM:224230	NOP10	55505	HP:0005528	Bone marrow hypocellularity
OMIM:224230	NOP10	55505	HP:0002206	Pulmonary fibrosis
OMIM:224230	NOP10	55505	HP:0000007	Autosomal recessive inheritance
OMIM:224230	NOP10	55505	HP:0000670	Carious teeth
OMIM:224230	NOP10	55505	HP:0000691	Microdontia
OMIM:224230	NOP10	55505	HP:0000939	Osteoporosis
OMIM:224230	NOP10	55505	HP:0001395	Hepatic fibrosis
OMIM:224230	NOP10	55505	HP:0000653	Sparse eyelashes
OMIM:224230	NOP10	55505	HP:0001915	Aplastic anemia
OMIM:224230	NOP10	55505	HP:0001873	Thrombocytopenia
OMIM:224230	NOP10	55505	HP:0009926	Increased lacrimation
OMIM:224230	NOP10	55505	HP:0002209	Sparse scalp hair
OMIM:224230	NOP10	55505	HP:0000252	Microcephaly
OMIM:224230	NOP10	55505	HP:0003812	Phenotypic variability
OMIM:224230	NOP10	55505	HP:0002164	Nail dysplasia
OMIM:224230	NOP10	55505	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	NOP10	55505	HP:0001249	Intellectual disability
OMIM:224230	NOP10	55505	HP:0001792	Small nail
OMIM:224230	PARN	5073	HP:0005528	Bone marrow hypocellularity
OMIM:224230	PARN	5073	HP:0002206	Pulmonary fibrosis
OMIM:224230	PARN	5073	HP:0000007	Autosomal recessive inheritance
OMIM:224230	PARN	5073	HP:0000670	Carious teeth
OMIM:224230	PARN	5073	HP:0000691	Microdontia
OMIM:224230	PARN	5073	HP:0000939	Osteoporosis
OMIM:224230	PARN	5073	HP:0001395	Hepatic fibrosis
OMIM:224230	PARN	5073	HP:0000653	Sparse eyelashes
OMIM:224230	PARN	5073	HP:0001915	Aplastic anemia
OMIM:224230	PARN	5073	HP:0001873	Thrombocytopenia
OMIM:224230	PARN	5073	HP:0009926	Increased lacrimation
OMIM:224230	PARN	5073	HP:0002209	Sparse scalp hair
OMIM:224230	PARN	5073	HP:0000252	Microcephaly
OMIM:224230	PARN	5073	HP:0003812	Phenotypic variability
OMIM:224230	PARN	5073	HP:0002164	Nail dysplasia
OMIM:224230	PARN	5073	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	PARN	5073	HP:0001249	Intellectual disability
OMIM:224230	PARN	5073	HP:0001792	Small nail
OMIM:224230	NHP2	55651	HP:0005528	Bone marrow hypocellularity
OMIM:224230	NHP2	55651	HP:0002206	Pulmonary fibrosis
OMIM:224230	NHP2	55651	HP:0000007	Autosomal recessive inheritance
OMIM:224230	NHP2	55651	HP:0000670	Carious teeth
OMIM:224230	NHP2	55651	HP:0000691	Microdontia
OMIM:224230	NHP2	55651	HP:0000939	Osteoporosis
OMIM:224230	NHP2	55651	HP:0001395	Hepatic fibrosis
OMIM:224230	NHP2	55651	HP:0000653	Sparse eyelashes
OMIM:224230	NHP2	55651	HP:0001915	Aplastic anemia
OMIM:224230	NHP2	55651	HP:0001873	Thrombocytopenia
OMIM:224230	NHP2	55651	HP:0009926	Increased lacrimation
OMIM:224230	NHP2	55651	HP:0002209	Sparse scalp hair
OMIM:224230	NHP2	55651	HP:0000252	Microcephaly
OMIM:224230	NHP2	55651	HP:0003812	Phenotypic variability
OMIM:224230	NHP2	55651	HP:0002164	Nail dysplasia
OMIM:224230	NHP2	55651	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	NHP2	55651	HP:0001249	Intellectual disability
OMIM:224230	NHP2	55651	HP:0001792	Small nail
OMIM:224230	USB1	79650	HP:0005528	Bone marrow hypocellularity
OMIM:224230	USB1	79650	HP:0002206	Pulmonary fibrosis
OMIM:224230	USB1	79650	HP:0000007	Autosomal recessive inheritance
OMIM:224230	USB1	79650	HP:0000670	Carious teeth
OMIM:224230	USB1	79650	HP:0000691	Microdontia
OMIM:224230	USB1	79650	HP:0000939	Osteoporosis
OMIM:224230	USB1	79650	HP:0001395	Hepatic fibrosis
OMIM:224230	USB1	79650	HP:0000653	Sparse eyelashes
OMIM:224230	USB1	79650	HP:0001915	Aplastic anemia
OMIM:224230	USB1	79650	HP:0001873	Thrombocytopenia
OMIM:224230	USB1	79650	HP:0009926	Increased lacrimation
OMIM:224230	USB1	79650	HP:0002209	Sparse scalp hair
OMIM:224230	USB1	79650	HP:0000252	Microcephaly
OMIM:224230	USB1	79650	HP:0003812	Phenotypic variability
OMIM:224230	USB1	79650	HP:0002164	Nail dysplasia
OMIM:224230	USB1	79650	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	USB1	79650	HP:0001249	Intellectual disability
OMIM:224230	USB1	79650	HP:0001792	Small nail
OMIM:224230	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:224230	TERC	7012	HP:0002206	Pulmonary fibrosis
OMIM:224230	TERC	7012	HP:0000007	Autosomal recessive inheritance
OMIM:224230	TERC	7012	HP:0000670	Carious teeth
OMIM:224230	TERC	7012	HP:0000691	Microdontia
OMIM:224230	TERC	7012	HP:0000939	Osteoporosis
OMIM:224230	TERC	7012	HP:0001395	Hepatic fibrosis
OMIM:224230	TERC	7012	HP:0000653	Sparse eyelashes
OMIM:224230	TERC	7012	HP:0001915	Aplastic anemia
OMIM:224230	TERC	7012	HP:0001873	Thrombocytopenia
OMIM:224230	TERC	7012	HP:0009926	Increased lacrimation
OMIM:224230	TERC	7012	HP:0002209	Sparse scalp hair
OMIM:224230	TERC	7012	HP:0000252	Microcephaly
OMIM:224230	TERC	7012	HP:0003812	Phenotypic variability
OMIM:224230	TERC	7012	HP:0002164	Nail dysplasia
OMIM:224230	TERC	7012	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	TERC	7012	HP:0001249	Intellectual disability
OMIM:224230	TERC	7012	HP:0001792	Small nail
OMIM:224230	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:224230	TINF2	26277	HP:0002206	Pulmonary fibrosis
OMIM:224230	TINF2	26277	HP:0000007	Autosomal recessive inheritance
OMIM:224230	TINF2	26277	HP:0000670	Carious teeth
OMIM:224230	TINF2	26277	HP:0000691	Microdontia
OMIM:224230	TINF2	26277	HP:0000939	Osteoporosis
OMIM:224230	TINF2	26277	HP:0001395	Hepatic fibrosis
OMIM:224230	TINF2	26277	HP:0000653	Sparse eyelashes
OMIM:224230	TINF2	26277	HP:0001915	Aplastic anemia
OMIM:224230	TINF2	26277	HP:0001873	Thrombocytopenia
OMIM:224230	TINF2	26277	HP:0009926	Increased lacrimation
OMIM:224230	TINF2	26277	HP:0002209	Sparse scalp hair
OMIM:224230	TINF2	26277	HP:0000252	Microcephaly
OMIM:224230	TINF2	26277	HP:0003812	Phenotypic variability
OMIM:224230	TINF2	26277	HP:0002164	Nail dysplasia
OMIM:224230	TINF2	26277	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	TINF2	26277	HP:0001249	Intellectual disability
OMIM:224230	TINF2	26277	HP:0001792	Small nail
OMIM:224230	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
OMIM:224230	RTEL1	51750	HP:0002206	Pulmonary fibrosis
OMIM:224230	RTEL1	51750	HP:0000007	Autosomal recessive inheritance
OMIM:224230	RTEL1	51750	HP:0000670	Carious teeth
OMIM:224230	RTEL1	51750	HP:0000691	Microdontia
OMIM:224230	RTEL1	51750	HP:0000939	Osteoporosis
OMIM:224230	RTEL1	51750	HP:0001395	Hepatic fibrosis
OMIM:224230	RTEL1	51750	HP:0000653	Sparse eyelashes
OMIM:224230	RTEL1	51750	HP:0001915	Aplastic anemia
OMIM:224230	RTEL1	51750	HP:0001873	Thrombocytopenia
OMIM:224230	RTEL1	51750	HP:0009926	Increased lacrimation
OMIM:224230	RTEL1	51750	HP:0002209	Sparse scalp hair
OMIM:224230	RTEL1	51750	HP:0000252	Microcephaly
OMIM:224230	RTEL1	51750	HP:0003812	Phenotypic variability
OMIM:224230	RTEL1	51750	HP:0002164	Nail dysplasia
OMIM:224230	RTEL1	51750	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	RTEL1	51750	HP:0001249	Intellectual disability
OMIM:224230	RTEL1	51750	HP:0001792	Small nail
OMIM:224230	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:224230	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:224230	TERT	7015	HP:0000007	Autosomal recessive inheritance
OMIM:224230	TERT	7015	HP:0000670	Carious teeth
OMIM:224230	TERT	7015	HP:0000691	Microdontia
OMIM:224230	TERT	7015	HP:0000939	Osteoporosis
OMIM:224230	TERT	7015	HP:0001395	Hepatic fibrosis
OMIM:224230	TERT	7015	HP:0000653	Sparse eyelashes
OMIM:224230	TERT	7015	HP:0001915	Aplastic anemia
OMIM:224230	TERT	7015	HP:0001873	Thrombocytopenia
OMIM:224230	TERT	7015	HP:0009926	Increased lacrimation
OMIM:224230	TERT	7015	HP:0002209	Sparse scalp hair
OMIM:224230	TERT	7015	HP:0000252	Microcephaly
OMIM:224230	TERT	7015	HP:0003812	Phenotypic variability
OMIM:224230	TERT	7015	HP:0002164	Nail dysplasia
OMIM:224230	TERT	7015	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	TERT	7015	HP:0001249	Intellectual disability
OMIM:224230	TERT	7015	HP:0001792	Small nail
OMIM:224230	DKC1	1736	HP:0005528	Bone marrow hypocellularity
OMIM:224230	DKC1	1736	HP:0002206	Pulmonary fibrosis
OMIM:224230	DKC1	1736	HP:0000007	Autosomal recessive inheritance
OMIM:224230	DKC1	1736	HP:0000670	Carious teeth
OMIM:224230	DKC1	1736	HP:0000691	Microdontia
OMIM:224230	DKC1	1736	HP:0000939	Osteoporosis
OMIM:224230	DKC1	1736	HP:0001395	Hepatic fibrosis
OMIM:224230	DKC1	1736	HP:0000653	Sparse eyelashes
OMIM:224230	DKC1	1736	HP:0001915	Aplastic anemia
OMIM:224230	DKC1	1736	HP:0001873	Thrombocytopenia
OMIM:224230	DKC1	1736	HP:0009926	Increased lacrimation
OMIM:224230	DKC1	1736	HP:0002209	Sparse scalp hair
OMIM:224230	DKC1	1736	HP:0000252	Microcephaly
OMIM:224230	DKC1	1736	HP:0003812	Phenotypic variability
OMIM:224230	DKC1	1736	HP:0002164	Nail dysplasia
OMIM:224230	DKC1	1736	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	DKC1	1736	HP:0001249	Intellectual disability
OMIM:224230	DKC1	1736	HP:0001792	Small nail
OMIM:224230	CTC1	80169	HP:0005528	Bone marrow hypocellularity
OMIM:224230	CTC1	80169	HP:0002206	Pulmonary fibrosis
OMIM:224230	CTC1	80169	HP:0000007	Autosomal recessive inheritance
OMIM:224230	CTC1	80169	HP:0000670	Carious teeth
OMIM:224230	CTC1	80169	HP:0000691	Microdontia
OMIM:224230	CTC1	80169	HP:0000939	Osteoporosis
OMIM:224230	CTC1	80169	HP:0001395	Hepatic fibrosis
OMIM:224230	CTC1	80169	HP:0000653	Sparse eyelashes
OMIM:224230	CTC1	80169	HP:0001915	Aplastic anemia
OMIM:224230	CTC1	80169	HP:0001873	Thrombocytopenia
OMIM:224230	CTC1	80169	HP:0009926	Increased lacrimation
OMIM:224230	CTC1	80169	HP:0002209	Sparse scalp hair
OMIM:224230	CTC1	80169	HP:0000252	Microcephaly
OMIM:224230	CTC1	80169	HP:0003812	Phenotypic variability
OMIM:224230	CTC1	80169	HP:0002164	Nail dysplasia
OMIM:224230	CTC1	80169	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	CTC1	80169	HP:0001249	Intellectual disability
OMIM:224230	CTC1	80169	HP:0001792	Small nail
OMIM:224230	WRAP53	55135	HP:0005528	Bone marrow hypocellularity
OMIM:224230	WRAP53	55135	HP:0002206	Pulmonary fibrosis
OMIM:224230	WRAP53	55135	HP:0000007	Autosomal recessive inheritance
OMIM:224230	WRAP53	55135	HP:0000670	Carious teeth
OMIM:224230	WRAP53	55135	HP:0000691	Microdontia
OMIM:224230	WRAP53	55135	HP:0000939	Osteoporosis
OMIM:224230	WRAP53	55135	HP:0001395	Hepatic fibrosis
OMIM:224230	WRAP53	55135	HP:0000653	Sparse eyelashes
OMIM:224230	WRAP53	55135	HP:0001915	Aplastic anemia
OMIM:224230	WRAP53	55135	HP:0001873	Thrombocytopenia
OMIM:224230	WRAP53	55135	HP:0009926	Increased lacrimation
OMIM:224230	WRAP53	55135	HP:0002209	Sparse scalp hair
OMIM:224230	WRAP53	55135	HP:0000252	Microcephaly
OMIM:224230	WRAP53	55135	HP:0003812	Phenotypic variability
OMIM:224230	WRAP53	55135	HP:0002164	Nail dysplasia
OMIM:224230	WRAP53	55135	HP:0000953	Hyperpigmentation of the skin
OMIM:224230	WRAP53	55135	HP:0001249	Intellectual disability
OMIM:224230	WRAP53	55135	HP:0001792	Small nail
OMIM:615386	SPTBN2	6712	HP:0003677	Slow progression
OMIM:615386	SPTBN2	6712	HP:0001257	Spasticity
OMIM:615386	SPTBN2	6712	HP:0001310	Dysmetria
OMIM:615386	SPTBN2	6712	HP:0001347	Hyperreflexia
OMIM:615386	SPTBN2	6712	HP:0003593	Infantile onset
OMIM:615386	SPTBN2	6712	HP:0000571	Hypometric saccades
OMIM:615386	SPTBN2	6712	HP:0000639	Nystagmus
OMIM:615386	SPTBN2	6712	HP:0002066	Gait ataxia
OMIM:615386	SPTBN2	6712	HP:0000750	Delayed speech and language development
OMIM:615386	SPTBN2	6712	HP:0000007	Autosomal recessive inheritance
OMIM:615386	SPTBN2	6712	HP:0002075	Dysdiadochokinesis
OMIM:615386	SPTBN2	6712	HP:0001263	Global developmental delay
OMIM:615386	SPTBN2	6712	HP:0001272	Cerebellar atrophy
OMIM:224100	SEC23B	10483	HP:0001081	Cholelithiasis
OMIM:224100	SEC23B	10483	HP:0001744	Splenomegaly
OMIM:224100	SEC23B	10483	HP:0001923	Reticulocytosis
OMIM:224100	SEC23B	10483	HP:0000952	Jaundice
OMIM:224100	SEC23B	10483	HP:0000007	Autosomal recessive inheritance
OMIM:224100	SEC23B	10483	HP:0010972	Anemia of inadequate production
OMIM:609053	FANCC	2176	HP:0005528	Bone marrow hypocellularity
OMIM:609053	FANCC	2176	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	FANCC	2176	HP:0004322	Short stature
OMIM:609053	FANCC	2176	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	FANCC	2176	HP:0012210	Abnormal renal morphology
OMIM:609053	FANCC	2176	HP:0000007	Autosomal recessive inheritance
OMIM:609053	FANCD2	2177	HP:0005528	Bone marrow hypocellularity
OMIM:609053	FANCD2	2177	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	FANCD2	2177	HP:0004322	Short stature
OMIM:609053	FANCD2	2177	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	FANCD2	2177	HP:0012210	Abnormal renal morphology
OMIM:609053	FANCD2	2177	HP:0000007	Autosomal recessive inheritance
OMIM:609053	FANCM	57697	HP:0005528	Bone marrow hypocellularity
OMIM:609053	FANCM	57697	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	FANCM	57697	HP:0004322	Short stature
OMIM:609053	FANCM	57697	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	FANCM	57697	HP:0012210	Abnormal renal morphology
OMIM:609053	FANCM	57697	HP:0000007	Autosomal recessive inheritance
OMIM:609053	RAD51C	5889	HP:0005528	Bone marrow hypocellularity
OMIM:609053	RAD51C	5889	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	RAD51C	5889	HP:0004322	Short stature
OMIM:609053	RAD51C	5889	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	RAD51C	5889	HP:0012210	Abnormal renal morphology
OMIM:609053	RAD51C	5889	HP:0000007	Autosomal recessive inheritance
OMIM:609053	UBE2T	29089	HP:0005528	Bone marrow hypocellularity
OMIM:609053	UBE2T	29089	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	UBE2T	29089	HP:0004322	Short stature
OMIM:609053	UBE2T	29089	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	UBE2T	29089	HP:0012210	Abnormal renal morphology
OMIM:609053	UBE2T	29089	HP:0000007	Autosomal recessive inheritance
OMIM:609053	FANCE	2178	HP:0005528	Bone marrow hypocellularity
OMIM:609053	FANCE	2178	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	FANCE	2178	HP:0004322	Short stature
OMIM:609053	FANCE	2178	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	FANCE	2178	HP:0012210	Abnormal renal morphology
OMIM:609053	FANCE	2178	HP:0000007	Autosomal recessive inheritance
OMIM:609053	BRCA2	675	HP:0005528	Bone marrow hypocellularity
OMIM:609053	BRCA2	675	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	BRCA2	675	HP:0004322	Short stature
OMIM:609053	BRCA2	675	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	BRCA2	675	HP:0012210	Abnormal renal morphology
OMIM:609053	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:609053	FANCB	2187	HP:0005528	Bone marrow hypocellularity
OMIM:609053	FANCB	2187	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	FANCB	2187	HP:0004322	Short stature
OMIM:609053	FANCB	2187	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	FANCB	2187	HP:0012210	Abnormal renal morphology
OMIM:609053	FANCB	2187	HP:0000007	Autosomal recessive inheritance
OMIM:609053	FANCF	2188	HP:0005528	Bone marrow hypocellularity
OMIM:609053	FANCF	2188	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	FANCF	2188	HP:0004322	Short stature
OMIM:609053	FANCF	2188	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	FANCF	2188	HP:0012210	Abnormal renal morphology
OMIM:609053	FANCF	2188	HP:0000007	Autosomal recessive inheritance
OMIM:609053	FANCG	2189	HP:0005528	Bone marrow hypocellularity
OMIM:609053	FANCG	2189	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	FANCG	2189	HP:0004322	Short stature
OMIM:609053	FANCG	2189	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	FANCG	2189	HP:0012210	Abnormal renal morphology
OMIM:609053	FANCG	2189	HP:0000007	Autosomal recessive inheritance
OMIM:609053	FANCI	55215	HP:0005528	Bone marrow hypocellularity
OMIM:609053	FANCI	55215	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	FANCI	55215	HP:0004322	Short stature
OMIM:609053	FANCI	55215	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	FANCI	55215	HP:0012210	Abnormal renal morphology
OMIM:609053	FANCI	55215	HP:0000007	Autosomal recessive inheritance
OMIM:609053	FANCL	55120	HP:0005528	Bone marrow hypocellularity
OMIM:609053	FANCL	55120	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	FANCL	55120	HP:0004322	Short stature
OMIM:609053	FANCL	55120	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	FANCL	55120	HP:0012210	Abnormal renal morphology
OMIM:609053	FANCL	55120	HP:0000007	Autosomal recessive inheritance
OMIM:609053	PALB2	79728	HP:0005528	Bone marrow hypocellularity
OMIM:609053	PALB2	79728	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	PALB2	79728	HP:0004322	Short stature
OMIM:609053	PALB2	79728	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	PALB2	79728	HP:0012210	Abnormal renal morphology
OMIM:609053	PALB2	79728	HP:0000007	Autosomal recessive inheritance
OMIM:609053	SLX4	84464	HP:0005528	Bone marrow hypocellularity
OMIM:609053	SLX4	84464	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	SLX4	84464	HP:0004322	Short stature
OMIM:609053	SLX4	84464	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	SLX4	84464	HP:0012210	Abnormal renal morphology
OMIM:609053	SLX4	84464	HP:0000007	Autosomal recessive inheritance
OMIM:609053	BRIP1	83990	HP:0005528	Bone marrow hypocellularity
OMIM:609053	BRIP1	83990	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	BRIP1	83990	HP:0004322	Short stature
OMIM:609053	BRIP1	83990	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	BRIP1	83990	HP:0012210	Abnormal renal morphology
OMIM:609053	BRIP1	83990	HP:0000007	Autosomal recessive inheritance
OMIM:609053	ERCC4	2072	HP:0005528	Bone marrow hypocellularity
OMIM:609053	ERCC4	2072	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	ERCC4	2072	HP:0004322	Short stature
OMIM:609053	ERCC4	2072	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	ERCC4	2072	HP:0012210	Abnormal renal morphology
OMIM:609053	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:609053	FANCA	2175	HP:0005528	Bone marrow hypocellularity
OMIM:609053	FANCA	2175	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:609053	FANCA	2175	HP:0004322	Short stature
OMIM:609053	FANCA	2175	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:609053	FANCA	2175	HP:0012210	Abnormal renal morphology
OMIM:609053	FANCA	2175	HP:0000007	Autosomal recessive inheritance
OMIM:251850	MYO5B	4645	HP:0001510	Growth delay
OMIM:251850	MYO5B	4645	HP:0001944	Dehydration
OMIM:251850	MYO5B	4645	HP:0011473	Villous atrophy
OMIM:251850	MYO5B	4645	HP:0004385	Protracted diarrhea
OMIM:251850	MYO5B	4645	HP:0004395	Malnutrition
OMIM:251850	MYO5B	4645	HP:0001522	Death in infancy
OMIM:251850	MYO5B	4645	HP:0000007	Autosomal recessive inheritance
OMIM:251850	MYO5B	4645	HP:0002024	Malabsorption
OMIM:251850	STX3	6809	HP:0001510	Growth delay
OMIM:251850	STX3	6809	HP:0001944	Dehydration
OMIM:251850	STX3	6809	HP:0011473	Villous atrophy
OMIM:251850	STX3	6809	HP:0004385	Protracted diarrhea
OMIM:251850	STX3	6809	HP:0004395	Malnutrition
OMIM:251850	STX3	6809	HP:0001522	Death in infancy
OMIM:251850	STX3	6809	HP:0000007	Autosomal recessive inheritance
OMIM:251850	STX3	6809	HP:0002024	Malabsorption
OMIM:266280	RECQL4	9401	HP:0002014	Diarrhea
OMIM:266280	RECQL4	9401	HP:0000218	High palate
OMIM:266280	RECQL4	9401	HP:0006443	Patellar aplasia
OMIM:266280	RECQL4	9401	HP:0002665	Lymphoma
OMIM:266280	RECQL4	9401	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:266280	RECQL4	9401	HP:0000581	Blepharophimosis
OMIM:266280	RECQL4	9401	HP:0004322	Short stature
OMIM:266280	RECQL4	9401	HP:0000175	Cleft palate
OMIM:266280	RECQL4	9401	HP:0100242	Sarcoma
OMIM:266280	RECQL4	9401	HP:0000007	Autosomal recessive inheritance
OMIM:266280	RECQL4	9401	HP:0000365	Hearing impairment
OMIM:266280	RECQL4	9401	HP:0001511	Intrauterine growth retardation
OMIM:266280	RECQL4	9401	HP:0002024	Malabsorption
OMIM:266280	RECQL4	9401	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:266280	RECQL4	9401	HP:0001373	Joint dislocation
OMIM:266280	RECQL4	9401	HP:0001382	Joint hypermobility
OMIM:266280	RECQL4	9401	HP:0000331	Short chin
OMIM:266280	RECQL4	9401	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:266280	RECQL4	9401	HP:0000276	Long face
OMIM:266280	RECQL4	9401	HP:0000957	Cafe-au-lait spot
OMIM:266280	RECQL4	9401	HP:0009777	Absent thumb
OMIM:266280	RECQL4	9401	HP:0000446	Narrow nasal bridge
OMIM:266280	RECQL4	9401	HP:0003422	Vertebral segmentation defect
OMIM:151430	BCL2	596	HP:0001428	Somatic mutation
OMIM:600334	TTN	7273	HP:0003376	Steppage gait
OMIM:600334	TTN	7273	HP:0003677	Slow progression
OMIM:600334	TTN	7273	HP:0003805	Rimmed vacuoles
OMIM:600334	TTN	7273	HP:0003829	Incomplete penetrance
OMIM:600334	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:600334	TTN	7273	HP:0003458	EMG: myopathic abnormalities
OMIM:600334	TTN	7273	HP:0003560	Muscular dystrophy
OMIM:600334	TTN	7273	HP:0003581	Adult onset
OMIM:610187	GATA6	2627	HP:0000776	Congenital diaphragmatic hernia
OMIM:610187	ZFPM2	23414	HP:0000776	Congenital diaphragmatic hernia
OMIM:300258	RNU4ATAC	100151683	HP:0000219	Thin upper lip vermilion
OMIM:300258	RNU4ATAC	100151683	HP:0001622	Premature birth
OMIM:300258	RNU4ATAC	100151683	HP:0000343	Long philtrum
OMIM:300258	RNU4ATAC	100151683	HP:0001744	Splenomegaly
OMIM:300258	RNU4ATAC	100151683	HP:0002240	Hepatomegaly
OMIM:300258	RNU4ATAC	100151683	HP:0001156	Brachydactyly syndrome
OMIM:300258	RNU4ATAC	100151683	HP:0000556	Retinal dystrophy
OMIM:300258	RNU4ATAC	100151683	HP:0004209	Clinodactyly of the 5th finger
OMIM:300258	RNU4ATAC	100151683	HP:0003301	Irregular vertebral endplates
OMIM:300258	RNU4ATAC	100151683	HP:0010554	Cutaneous finger syndactyly
OMIM:300258	RNU4ATAC	100151683	HP:0003273	Hip contracture
OMIM:300258	RNU4ATAC	100151683	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:300258	RNU4ATAC	100151683	HP:0001263	Global developmental delay
OMIM:300258	RNU4ATAC	100151683	HP:0001419	X-linked recessive inheritance
OMIM:300258	RNU4ATAC	100151683	HP:0006532	Recurrent pneumonia
OMIM:300258	RNU4ATAC	100151683	HP:0001256	Intellectual disability, mild
OMIM:300258	RNU4ATAC	100151683	HP:0011108	Recurrent sinusitis
OMIM:300258	RNU4ATAC	100151683	HP:0000388	Otitis media
OMIM:300258	RNU4ATAC	100151683	HP:0002099	Asthma
OMIM:300258	RNU4ATAC	100151683	HP:0005819	Short middle phalanx of finger
OMIM:300258	RNU4ATAC	100151683	HP:0000527	Long eyelashes
OMIM:300258	RNU4ATAC	100151683	HP:0001880	Eosinophilia
OMIM:300258	RNU4ATAC	100151683	HP:0000494	Downslanted palpebral fissures
OMIM:300258	RNU4ATAC	100151683	HP:0001739	Abnormality of the nasopharynx
OMIM:300258	RNU4ATAC	100151683	HP:0000540	Hypermetropia
OMIM:300258	RNU4ATAC	100151683	HP:0002719	Recurrent infections
OMIM:300258	RNU4ATAC	100151683	HP:0001511	Intrauterine growth retardation
OMIM:300258	RNU4ATAC	100151683	HP:0000954	Single transverse palmar crease
OMIM:300258	RNU4ATAC	100151683	HP:0000964	Eczema
OMIM:300258	RNU4ATAC	100151683	HP:0001626	Abnormality of the cardiovascular system
OMIM:300258	RNU4ATAC	100151683	HP:0000486	Strabismus
OMIM:300258	RNU4ATAC	100151683	HP:0000581	Blepharophimosis
OMIM:300258	RNU4ATAC	100151683	HP:0001252	Muscular hypotonia
OMIM:300258	RNU4ATAC	100151683	HP:0002716	Lymphadenopathy
OMIM:300258	RNU4ATAC	100151683	HP:0000463	Anteverted nares
OMIM:277480	VWF	7450	HP:0001873	Thrombocytopenia
OMIM:277480	VWF	7450	HP:0000978	Bruising susceptibility
OMIM:277480	VWF	7450	HP:0003010	Prolonged bleeding time
OMIM:277480	VWF	7450	HP:0000421	Epistaxis
OMIM:277480	VWF	7450	HP:0000007	Autosomal recessive inheritance
OMIM:277480	VWF	7450	HP:0003540	Impaired platelet aggregation
OMIM:614813	POC1A	25886	HP:0003498	Disproportionate short stature
OMIM:614813	POC1A	25886	HP:0200055	Small hand
OMIM:614813	POC1A	25886	HP:0000307	Pointed chin
OMIM:614813	POC1A	25886	HP:0002376	Developmental regression
OMIM:614813	POC1A	25886	HP:0030084	Clinodactyly
OMIM:614813	POC1A	25886	HP:0008070	Sparse hair
OMIM:614813	POC1A	25886	HP:0000490	Deeply set eye
OMIM:614813	POC1A	25886	HP:0010743	Short metatarsal
OMIM:614813	POC1A	25886	HP:0000448	Prominent nose
OMIM:614813	POC1A	25886	HP:0011220	Prominent forehead
OMIM:614813	POC1A	25886	HP:0001156	Brachydactyly syndrome
OMIM:614813	POC1A	25886	HP:0010579	Cone-shaped epiphysis
OMIM:614813	POC1A	25886	HP:0001518	Small for gestational age
OMIM:614813	POC1A	25886	HP:0001792	Small nail
OMIM:614813	POC1A	25886	HP:0000256	Macrocephaly
OMIM:614813	POC1A	25886	HP:0002515	Waddling gait
OMIM:614813	POC1A	25886	HP:0001620	High pitched voice
OMIM:614813	POC1A	25886	HP:0010049	Short metacarpal
OMIM:614813	POC1A	25886	HP:0000164	Abnormality of the teeth
OMIM:614813	POC1A	25886	HP:0000325	Triangular face
OMIM:614813	POC1A	25886	HP:0000316	Hypertelorism
OMIM:614813	POC1A	25886	HP:0001252	Muscular hypotonia
OMIM:614813	POC1A	25886	HP:0001263	Global developmental delay
OMIM:614813	POC1A	25886	HP:0000007	Autosomal recessive inheritance
OMIM:614813	POC1A	25886	HP:0000252	Microcephaly
OMIM:614813	POC1A	25886	HP:0009882	Short distal phalanx of finger
OMIM:614813	POC1A	25886	HP:0000819	Diabetes mellitus
OMIM:614813	POC1A	25886	HP:0008551	Microtia
OMIM:614813	POC1A	25886	HP:0100864	Short femoral neck
OMIM:614813	POC1A	25886	HP:0000303	Mandibular prognathia
OMIM:614813	POC1A	25886	HP:0000276	Long face
OMIM:604232	RLBP1	6017	HP:0000572	Visual loss
OMIM:604232	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RLBP1	6017	HP:0000639	Nystagmus
OMIM:604232	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:604232	SPATA7	55812	HP:0000572	Visual loss
OMIM:604232	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:604232	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:604232	SPATA7	55812	HP:0000639	Nystagmus
OMIM:604232	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:604232	ARL6	84100	HP:0000572	Visual loss
OMIM:604232	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:604232	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:604232	ARL6	84100	HP:0000639	Nystagmus
OMIM:604232	ARL6	84100	HP:0000662	Nyctalopia
OMIM:604232	CERKL	375298	HP:0000572	Visual loss
OMIM:604232	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:604232	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:604232	CERKL	375298	HP:0000639	Nystagmus
OMIM:604232	CERKL	375298	HP:0000662	Nyctalopia
OMIM:604232	RPGRIP1	57096	HP:0000572	Visual loss
OMIM:604232	RPGRIP1	57096	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RPGRIP1	57096	HP:0000639	Nystagmus
OMIM:604232	RPGRIP1	57096	HP:0000662	Nyctalopia
OMIM:604232	LCA5	167691	HP:0000572	Visual loss
OMIM:604232	LCA5	167691	HP:0001133	Constriction of peripheral visual field
OMIM:604232	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:604232	LCA5	167691	HP:0000639	Nystagmus
OMIM:604232	LCA5	167691	HP:0000662	Nyctalopia
OMIM:604232	PRPF31	26121	HP:0000572	Visual loss
OMIM:604232	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:604232	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:604232	PRPF31	26121	HP:0000639	Nystagmus
OMIM:604232	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:604232	TTC8	123016	HP:0000572	Visual loss
OMIM:604232	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:604232	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:604232	TTC8	123016	HP:0000639	Nystagmus
OMIM:604232	TTC8	123016	HP:0000662	Nyctalopia
OMIM:604232	PROM1	8842	HP:0000572	Visual loss
OMIM:604232	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:604232	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:604232	PROM1	8842	HP:0000639	Nystagmus
OMIM:604232	PROM1	8842	HP:0000662	Nyctalopia
OMIM:604232	LRAT	9227	HP:0000572	Visual loss
OMIM:604232	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:604232	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:604232	LRAT	9227	HP:0000639	Nystagmus
OMIM:604232	LRAT	9227	HP:0000662	Nyctalopia
OMIM:604232	IFT140	9742	HP:0000572	Visual loss
OMIM:604232	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:604232	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:604232	IFT140	9742	HP:0000639	Nystagmus
OMIM:604232	IFT140	9742	HP:0000662	Nyctalopia
OMIM:604232	BEST1	7439	HP:0000572	Visual loss
OMIM:604232	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:604232	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:604232	BEST1	7439	HP:0000639	Nystagmus
OMIM:604232	BEST1	7439	HP:0000662	Nyctalopia
OMIM:604232	NEK2	4751	HP:0000572	Visual loss
OMIM:604232	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:604232	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:604232	NEK2	4751	HP:0000639	Nystagmus
OMIM:604232	NEK2	4751	HP:0000662	Nyctalopia
OMIM:604232	ARL2BP	23568	HP:0000572	Visual loss
OMIM:604232	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:604232	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:604232	ARL2BP	23568	HP:0000639	Nystagmus
OMIM:604232	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:604232	NR2E3	10002	HP:0000572	Visual loss
OMIM:604232	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:604232	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:604232	NR2E3	10002	HP:0000639	Nystagmus
OMIM:604232	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:604232	EYS	346007	HP:0000572	Visual loss
OMIM:604232	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:604232	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:604232	EYS	346007	HP:0000639	Nystagmus
OMIM:604232	EYS	346007	HP:0000662	Nyctalopia
OMIM:604232	MAK	4117	HP:0000572	Visual loss
OMIM:604232	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:604232	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:604232	MAK	4117	HP:0000639	Nystagmus
OMIM:604232	MAK	4117	HP:0000662	Nyctalopia
OMIM:604232	SAG	6295	HP:0000572	Visual loss
OMIM:604232	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:604232	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:604232	SAG	6295	HP:0000639	Nystagmus
OMIM:604232	SAG	6295	HP:0000662	Nyctalopia
OMIM:604232	ABCA4	24	HP:0000572	Visual loss
OMIM:604232	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:604232	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:604232	ABCA4	24	HP:0000639	Nystagmus
OMIM:604232	ABCA4	24	HP:0000662	Nyctalopia
OMIM:604232	PDE6A	5145	HP:0000572	Visual loss
OMIM:604232	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:604232	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:604232	PDE6A	5145	HP:0000639	Nystagmus
OMIM:604232	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:604232	PDE6G	5148	HP:0000572	Visual loss
OMIM:604232	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:604232	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:604232	PDE6G	5148	HP:0000639	Nystagmus
OMIM:604232	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:604232	IMPDH1	3614	HP:0000572	Visual loss
OMIM:604232	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:604232	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:604232	IMPDH1	3614	HP:0000639	Nystagmus
OMIM:604232	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:604232	OFD1	8481	HP:0000572	Visual loss
OMIM:604232	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:604232	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:604232	OFD1	8481	HP:0000639	Nystagmus
OMIM:604232	OFD1	8481	HP:0000662	Nyctalopia
OMIM:604232	NMNAT1	64802	HP:0000572	Visual loss
OMIM:604232	NMNAT1	64802	HP:0001133	Constriction of peripheral visual field
OMIM:604232	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:604232	NMNAT1	64802	HP:0000639	Nystagmus
OMIM:604232	NMNAT1	64802	HP:0000662	Nyctalopia
OMIM:604232	GUCA1B	2979	HP:0000572	Visual loss
OMIM:604232	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:604232	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:604232	GUCA1B	2979	HP:0000639	Nystagmus
OMIM:604232	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:604232	NRL	4901	HP:0000572	Visual loss
OMIM:604232	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:604232	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:604232	NRL	4901	HP:0000639	Nystagmus
OMIM:604232	NRL	4901	HP:0000662	Nyctalopia
OMIM:604232	PDE6B	5158	HP:0000572	Visual loss
OMIM:604232	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:604232	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:604232	PDE6B	5158	HP:0000639	Nystagmus
OMIM:604232	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:604232	KLHL7	55975	HP:0000572	Visual loss
OMIM:604232	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:604232	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:604232	KLHL7	55975	HP:0000639	Nystagmus
OMIM:604232	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:604232	PRPF4	9128	HP:0000572	Visual loss
OMIM:604232	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:604232	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:604232	PRPF4	9128	HP:0000639	Nystagmus
OMIM:604232	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:604232	PRPF3	9129	HP:0000572	Visual loss
OMIM:604232	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:604232	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:604232	PRPF3	9129	HP:0000639	Nystagmus
OMIM:604232	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:604232	FAM161A	84140	HP:0000572	Visual loss
OMIM:604232	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:604232	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:604232	FAM161A	84140	HP:0000639	Nystagmus
OMIM:604232	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:604232	IFT172	26160	HP:0000572	Visual loss
OMIM:604232	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:604232	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:604232	IFT172	26160	HP:0000639	Nystagmus
OMIM:604232	IFT172	26160	HP:0000662	Nyctalopia
OMIM:604232	KIZ	55857	HP:0000572	Visual loss
OMIM:604232	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:604232	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:604232	KIZ	55857	HP:0000639	Nystagmus
OMIM:604232	KIZ	55857	HP:0000662	Nyctalopia
OMIM:604232	CDHR1	92211	HP:0000572	Visual loss
OMIM:604232	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:604232	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:604232	CDHR1	92211	HP:0000639	Nystagmus
OMIM:604232	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:604232	ZNF408	79797	HP:0000572	Visual loss
OMIM:604232	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:604232	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:604232	ZNF408	79797	HP:0000639	Nystagmus
OMIM:604232	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:604232	GUCY2D	3000	HP:0000572	Visual loss
OMIM:604232	GUCY2D	3000	HP:0001133	Constriction of peripheral visual field
OMIM:604232	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:604232	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:604232	GUCY2D	3000	HP:0000662	Nyctalopia
OMIM:604232	CEP290	80184	HP:0000572	Visual loss
OMIM:604232	CEP290	80184	HP:0001133	Constriction of peripheral visual field
OMIM:604232	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:604232	CEP290	80184	HP:0000639	Nystagmus
OMIM:604232	CEP290	80184	HP:0000662	Nyctalopia
OMIM:604232	IQCB1	9657	HP:0000572	Visual loss
OMIM:604232	IQCB1	9657	HP:0001133	Constriction of peripheral visual field
OMIM:604232	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:604232	IQCB1	9657	HP:0000639	Nystagmus
OMIM:604232	IQCB1	9657	HP:0000662	Nyctalopia
OMIM:604232	KCNJ13	3769	HP:0000572	Visual loss
OMIM:604232	KCNJ13	3769	HP:0001133	Constriction of peripheral visual field
OMIM:604232	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:604232	KCNJ13	3769	HP:0000639	Nystagmus
OMIM:604232	KCNJ13	3769	HP:0000662	Nyctalopia
OMIM:604232	GDF6	392255	HP:0000572	Visual loss
OMIM:604232	GDF6	392255	HP:0001133	Constriction of peripheral visual field
OMIM:604232	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:604232	GDF6	392255	HP:0000639	Nystagmus
OMIM:604232	GDF6	392255	HP:0000662	Nyctalopia
OMIM:604232	RBP3	5949	HP:0000572	Visual loss
OMIM:604232	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RBP3	5949	HP:0000639	Nystagmus
OMIM:604232	RBP3	5949	HP:0000662	Nyctalopia
OMIM:604232	HGSNAT	138050	HP:0000572	Visual loss
OMIM:604232	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:604232	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:604232	HGSNAT	138050	HP:0000639	Nystagmus
OMIM:604232	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:604232	AIPL1	23746	HP:0000572	Visual loss
OMIM:604232	AIPL1	23746	HP:0001133	Constriction of peripheral visual field
OMIM:604232	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:604232	AIPL1	23746	HP:0000639	Nystagmus
OMIM:604232	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:604232	FSCN2	25794	HP:0000572	Visual loss
OMIM:604232	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:604232	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:604232	FSCN2	25794	HP:0000639	Nystagmus
OMIM:604232	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:604232	PRCD	768206	HP:0000572	Visual loss
OMIM:604232	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:604232	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:604232	PRCD	768206	HP:0000639	Nystagmus
OMIM:604232	PRCD	768206	HP:0000662	Nyctalopia
OMIM:604232	BBS2	583	HP:0000572	Visual loss
OMIM:604232	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:604232	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:604232	BBS2	583	HP:0000639	Nystagmus
OMIM:604232	BBS2	583	HP:0000662	Nyctalopia
OMIM:604232	RDH12	145226	HP:0000572	Visual loss
OMIM:604232	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RDH12	145226	HP:0000639	Nystagmus
OMIM:604232	RDH12	145226	HP:0000662	Nyctalopia
OMIM:604232	PRPH2	5961	HP:0000572	Visual loss
OMIM:604232	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:604232	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:604232	PRPH2	5961	HP:0000639	Nystagmus
OMIM:604232	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:604232	DHDDS	79947	HP:0000572	Visual loss
OMIM:604232	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:604232	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:604232	DHDDS	79947	HP:0000639	Nystagmus
OMIM:604232	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:604232	ROM1	6094	HP:0000572	Visual loss
OMIM:604232	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:604232	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:604232	ROM1	6094	HP:0000639	Nystagmus
OMIM:604232	ROM1	6094	HP:0000662	Nyctalopia
OMIM:604232	C2ORF71	388939	HP:0000572	Visual loss
OMIM:604232	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:604232	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:604232	C2ORF71	388939	HP:0000639	Nystagmus
OMIM:604232	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:604232	RP9	6100	HP:0000572	Visual loss
OMIM:604232	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RP9	6100	HP:0000639	Nystagmus
OMIM:604232	RP9	6100	HP:0000662	Nyctalopia
OMIM:604232	PRPF6	24148	HP:0000572	Visual loss
OMIM:604232	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:604232	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:604232	PRPF6	24148	HP:0000639	Nystagmus
OMIM:604232	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:604232	RP1	6101	HP:0000572	Visual loss
OMIM:604232	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RP1	6101	HP:0000639	Nystagmus
OMIM:604232	RP1	6101	HP:0000662	Nyctalopia
OMIM:604232	RP2	6102	HP:0000572	Visual loss
OMIM:604232	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RP2	6102	HP:0000639	Nystagmus
OMIM:604232	RP2	6102	HP:0000662	Nyctalopia
OMIM:604232	RPGR	6103	HP:0000572	Visual loss
OMIM:604232	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RPGR	6103	HP:0000639	Nystagmus
OMIM:604232	RPGR	6103	HP:0000662	Nyctalopia
OMIM:604232	SEMA4A	64218	HP:0000572	Visual loss
OMIM:604232	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:604232	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:604232	SEMA4A	64218	HP:0000639	Nystagmus
OMIM:604232	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:604232	C8ORF37	157657	HP:0000572	Visual loss
OMIM:604232	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:604232	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:604232	C8ORF37	157657	HP:0000639	Nystagmus
OMIM:604232	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:604232	IDH3B	3420	HP:0000572	Visual loss
OMIM:604232	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:604232	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:604232	IDH3B	3420	HP:0000639	Nystagmus
OMIM:604232	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:604232	MERTK	10461	HP:0000572	Visual loss
OMIM:604232	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:604232	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:604232	MERTK	10461	HP:0000639	Nystagmus
OMIM:604232	MERTK	10461	HP:0000662	Nyctalopia
OMIM:604232	PRPF8	10594	HP:0000572	Visual loss
OMIM:604232	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:604232	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:604232	PRPF8	10594	HP:0000639	Nystagmus
OMIM:604232	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:604232	TOPORS	10210	HP:0000572	Visual loss
OMIM:604232	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:604232	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:604232	TOPORS	10210	HP:0000639	Nystagmus
OMIM:604232	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:604232	USH2A	7399	HP:0000572	Visual loss
OMIM:604232	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:604232	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:604232	USH2A	7399	HP:0000639	Nystagmus
OMIM:604232	USH2A	7399	HP:0000662	Nyctalopia
OMIM:604232	RPE65	6121	HP:0000572	Visual loss
OMIM:604232	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RPE65	6121	HP:0000639	Nystagmus
OMIM:604232	RPE65	6121	HP:0000662	Nyctalopia
OMIM:604232	CLRN1	7401	HP:0000572	Visual loss
OMIM:604232	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:604232	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:604232	CLRN1	7401	HP:0000639	Nystagmus
OMIM:604232	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:604232	CNGB1	1258	HP:0000572	Visual loss
OMIM:604232	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:604232	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:604232	CNGB1	1258	HP:0000639	Nystagmus
OMIM:604232	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:604232	RGR	5995	HP:0000572	Visual loss
OMIM:604232	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RGR	5995	HP:0000639	Nystagmus
OMIM:604232	RGR	5995	HP:0000662	Nyctalopia
OMIM:604232	CNGA1	1259	HP:0000572	Visual loss
OMIM:604232	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:604232	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:604232	CNGA1	1259	HP:0000639	Nystagmus
OMIM:604232	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:604232	TUB	7275	HP:0000572	Visual loss
OMIM:604232	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:604232	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:604232	TUB	7275	HP:0000639	Nystagmus
OMIM:604232	TUB	7275	HP:0000662	Nyctalopia
OMIM:604232	SNRNP200	23020	HP:0000572	Visual loss
OMIM:604232	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:604232	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:604232	SNRNP200	23020	HP:0000639	Nystagmus
OMIM:604232	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:604232	SLC7A14	57709	HP:0000572	Visual loss
OMIM:604232	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:604232	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:604232	SLC7A14	57709	HP:0000639	Nystagmus
OMIM:604232	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:604232	TULP1	7287	HP:0000572	Visual loss
OMIM:604232	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:604232	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:604232	TULP1	7287	HP:0000639	Nystagmus
OMIM:604232	TULP1	7287	HP:0000662	Nyctalopia
OMIM:604232	CRB1	23418	HP:0000572	Visual loss
OMIM:604232	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:604232	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:604232	CRB1	23418	HP:0000639	Nystagmus
OMIM:604232	CRB1	23418	HP:0000662	Nyctalopia
OMIM:604232	RHO	6010	HP:0000572	Visual loss
OMIM:604232	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RHO	6010	HP:0000639	Nystagmus
OMIM:604232	RHO	6010	HP:0000662	Nyctalopia
OMIM:604232	CA4	762	HP:0000572	Visual loss
OMIM:604232	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:604232	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:604232	CA4	762	HP:0000639	Nystagmus
OMIM:604232	CA4	762	HP:0000662	Nyctalopia
OMIM:604232	IMPG2	50939	HP:0000572	Visual loss
OMIM:604232	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:604232	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:604232	IMPG2	50939	HP:0000639	Nystagmus
OMIM:604232	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:604232	ZNF513	130557	HP:0000572	Visual loss
OMIM:604232	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:604232	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:604232	ZNF513	130557	HP:0000639	Nystagmus
OMIM:604232	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:604232	RD3	343035	HP:0000572	Visual loss
OMIM:604232	RD3	343035	HP:0001133	Constriction of peripheral visual field
OMIM:604232	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:604232	RD3	343035	HP:0000639	Nystagmus
OMIM:604232	RD3	343035	HP:0000662	Nyctalopia
OMIM:604232	CRX	1406	HP:0000572	Visual loss
OMIM:604232	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:604232	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:604232	CRX	1406	HP:0000639	Nystagmus
OMIM:604232	CRX	1406	HP:0000662	Nyctalopia
ORPHANET:478	PROK2	60675	HP:0002652	Skeletal dysplasia
ORPHANET:478	PROK2	60675	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	PROK2	60675	HP:0001324	Muscle weakness
ORPHANET:478	PROK2	60675	HP:0000551	Abnormality of color vision
ORPHANET:478	PROK2	60675	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	PROK2	60675	HP:0001761	Pes cavus
ORPHANET:478	PROK2	60675	HP:0000505	Visual impairment
ORPHANET:478	PROK2	60675	HP:0009804	Reduced number of teeth
ORPHANET:478	PROK2	60675	HP:0002750	Delayed skeletal maturation
ORPHANET:478	PROK2	60675	HP:0000639	Nystagmus
ORPHANET:478	PROK2	60675	HP:0002757	Recurrent fractures
ORPHANET:478	PROK2	60675	HP:0001608	Abnormality of the voice
ORPHANET:478	PROK2	60675	HP:0000028	Cryptorchidism
ORPHANET:478	PROK2	60675	HP:0001838	Rocker bottom foot
ORPHANET:478	PROK2	60675	HP:0008736	Hypoplasia of penis
ORPHANET:478	PROK2	60675	HP:0000175	Cleft palate
ORPHANET:478	PROK2	60675	HP:0001288	Gait disturbance
ORPHANET:478	PROK2	60675	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	PROK2	60675	HP:0000830	Anterior hypopituitarism
ORPHANET:478	PROK2	60675	HP:0001252	Muscular hypotonia
ORPHANET:478	PROK2	60675	HP:0000144	Decreased fertility
ORPHANET:478	PROK2	60675	HP:0001250	Seizures
ORPHANET:478	PROK2	60675	HP:0004349	Reduced bone mineral density
ORPHANET:478	PROK2	60675	HP:0001337	Tremor
ORPHANET:478	PROK2	60675	HP:0002167	Neurological speech impairment
ORPHANET:478	PROK2	60675	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	PROK2	60675	HP:0000786	Primary amenorrhea
ORPHANET:478	PROK2	60675	HP:0001513	Obesity
ORPHANET:478	PROK2	60675	HP:0000508	Ptosis
ORPHANET:478	PROK2	60675	HP:0008064	Ichthyosis
ORPHANET:478	PROK2	60675	HP:0002311	Incoordination
ORPHANET:478	PROKR2	128674	HP:0002652	Skeletal dysplasia
ORPHANET:478	PROKR2	128674	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	PROKR2	128674	HP:0001324	Muscle weakness
ORPHANET:478	PROKR2	128674	HP:0000551	Abnormality of color vision
ORPHANET:478	PROKR2	128674	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	PROKR2	128674	HP:0001761	Pes cavus
ORPHANET:478	PROKR2	128674	HP:0000505	Visual impairment
ORPHANET:478	PROKR2	128674	HP:0009804	Reduced number of teeth
ORPHANET:478	PROKR2	128674	HP:0002750	Delayed skeletal maturation
ORPHANET:478	PROKR2	128674	HP:0000639	Nystagmus
ORPHANET:478	PROKR2	128674	HP:0002757	Recurrent fractures
ORPHANET:478	PROKR2	128674	HP:0001608	Abnormality of the voice
ORPHANET:478	PROKR2	128674	HP:0000028	Cryptorchidism
ORPHANET:478	PROKR2	128674	HP:0001838	Rocker bottom foot
ORPHANET:478	PROKR2	128674	HP:0008736	Hypoplasia of penis
ORPHANET:478	PROKR2	128674	HP:0000175	Cleft palate
ORPHANET:478	PROKR2	128674	HP:0001288	Gait disturbance
ORPHANET:478	PROKR2	128674	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	PROKR2	128674	HP:0000830	Anterior hypopituitarism
ORPHANET:478	PROKR2	128674	HP:0001252	Muscular hypotonia
ORPHANET:478	PROKR2	128674	HP:0000144	Decreased fertility
ORPHANET:478	PROKR2	128674	HP:0001250	Seizures
ORPHANET:478	PROKR2	128674	HP:0004349	Reduced bone mineral density
ORPHANET:478	PROKR2	128674	HP:0001337	Tremor
ORPHANET:478	PROKR2	128674	HP:0002167	Neurological speech impairment
ORPHANET:478	PROKR2	128674	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	PROKR2	128674	HP:0000786	Primary amenorrhea
ORPHANET:478	PROKR2	128674	HP:0001513	Obesity
ORPHANET:478	PROKR2	128674	HP:0000508	Ptosis
ORPHANET:478	PROKR2	128674	HP:0008064	Ichthyosis
ORPHANET:478	PROKR2	128674	HP:0002311	Incoordination
ORPHANET:478	SEMA3A	10371	HP:0002652	Skeletal dysplasia
ORPHANET:478	SEMA3A	10371	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	SEMA3A	10371	HP:0001324	Muscle weakness
ORPHANET:478	SEMA3A	10371	HP:0000551	Abnormality of color vision
ORPHANET:478	SEMA3A	10371	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	SEMA3A	10371	HP:0001761	Pes cavus
ORPHANET:478	SEMA3A	10371	HP:0000505	Visual impairment
ORPHANET:478	SEMA3A	10371	HP:0009804	Reduced number of teeth
ORPHANET:478	SEMA3A	10371	HP:0002750	Delayed skeletal maturation
ORPHANET:478	SEMA3A	10371	HP:0000639	Nystagmus
ORPHANET:478	SEMA3A	10371	HP:0002757	Recurrent fractures
ORPHANET:478	SEMA3A	10371	HP:0001608	Abnormality of the voice
ORPHANET:478	SEMA3A	10371	HP:0000028	Cryptorchidism
ORPHANET:478	SEMA3A	10371	HP:0001838	Rocker bottom foot
ORPHANET:478	SEMA3A	10371	HP:0008736	Hypoplasia of penis
ORPHANET:478	SEMA3A	10371	HP:0000175	Cleft palate
ORPHANET:478	SEMA3A	10371	HP:0001288	Gait disturbance
ORPHANET:478	SEMA3A	10371	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	SEMA3A	10371	HP:0000830	Anterior hypopituitarism
ORPHANET:478	SEMA3A	10371	HP:0001252	Muscular hypotonia
ORPHANET:478	SEMA3A	10371	HP:0000144	Decreased fertility
ORPHANET:478	SEMA3A	10371	HP:0001250	Seizures
ORPHANET:478	SEMA3A	10371	HP:0004349	Reduced bone mineral density
ORPHANET:478	SEMA3A	10371	HP:0001337	Tremor
ORPHANET:478	SEMA3A	10371	HP:0002167	Neurological speech impairment
ORPHANET:478	SEMA3A	10371	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	SEMA3A	10371	HP:0000786	Primary amenorrhea
ORPHANET:478	SEMA3A	10371	HP:0001513	Obesity
ORPHANET:478	SEMA3A	10371	HP:0000508	Ptosis
ORPHANET:478	SEMA3A	10371	HP:0008064	Ichthyosis
ORPHANET:478	SEMA3A	10371	HP:0002311	Incoordination
ORPHANET:478	IL17RD	54756	HP:0002652	Skeletal dysplasia
ORPHANET:478	IL17RD	54756	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	IL17RD	54756	HP:0001324	Muscle weakness
ORPHANET:478	IL17RD	54756	HP:0000551	Abnormality of color vision
ORPHANET:478	IL17RD	54756	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	IL17RD	54756	HP:0001761	Pes cavus
ORPHANET:478	IL17RD	54756	HP:0000505	Visual impairment
ORPHANET:478	IL17RD	54756	HP:0009804	Reduced number of teeth
ORPHANET:478	IL17RD	54756	HP:0002750	Delayed skeletal maturation
ORPHANET:478	IL17RD	54756	HP:0000639	Nystagmus
ORPHANET:478	IL17RD	54756	HP:0002757	Recurrent fractures
ORPHANET:478	IL17RD	54756	HP:0001608	Abnormality of the voice
ORPHANET:478	IL17RD	54756	HP:0000028	Cryptorchidism
ORPHANET:478	IL17RD	54756	HP:0001838	Rocker bottom foot
ORPHANET:478	IL17RD	54756	HP:0008736	Hypoplasia of penis
ORPHANET:478	IL17RD	54756	HP:0000175	Cleft palate
ORPHANET:478	IL17RD	54756	HP:0001288	Gait disturbance
ORPHANET:478	IL17RD	54756	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	IL17RD	54756	HP:0000830	Anterior hypopituitarism
ORPHANET:478	IL17RD	54756	HP:0001252	Muscular hypotonia
ORPHANET:478	IL17RD	54756	HP:0000144	Decreased fertility
ORPHANET:478	IL17RD	54756	HP:0001250	Seizures
ORPHANET:478	IL17RD	54756	HP:0004349	Reduced bone mineral density
ORPHANET:478	IL17RD	54756	HP:0001337	Tremor
ORPHANET:478	IL17RD	54756	HP:0002167	Neurological speech impairment
ORPHANET:478	IL17RD	54756	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	IL17RD	54756	HP:0000786	Primary amenorrhea
ORPHANET:478	IL17RD	54756	HP:0001513	Obesity
ORPHANET:478	IL17RD	54756	HP:0000508	Ptosis
ORPHANET:478	IL17RD	54756	HP:0008064	Ichthyosis
ORPHANET:478	IL17RD	54756	HP:0002311	Incoordination
ORPHANET:478	WDR11	55717	HP:0002652	Skeletal dysplasia
ORPHANET:478	WDR11	55717	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	WDR11	55717	HP:0001324	Muscle weakness
ORPHANET:478	WDR11	55717	HP:0000551	Abnormality of color vision
ORPHANET:478	WDR11	55717	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	WDR11	55717	HP:0001761	Pes cavus
ORPHANET:478	WDR11	55717	HP:0000505	Visual impairment
ORPHANET:478	WDR11	55717	HP:0009804	Reduced number of teeth
ORPHANET:478	WDR11	55717	HP:0002750	Delayed skeletal maturation
ORPHANET:478	WDR11	55717	HP:0000639	Nystagmus
ORPHANET:478	WDR11	55717	HP:0002757	Recurrent fractures
ORPHANET:478	WDR11	55717	HP:0001608	Abnormality of the voice
ORPHANET:478	WDR11	55717	HP:0000028	Cryptorchidism
ORPHANET:478	WDR11	55717	HP:0001838	Rocker bottom foot
ORPHANET:478	WDR11	55717	HP:0008736	Hypoplasia of penis
ORPHANET:478	WDR11	55717	HP:0000175	Cleft palate
ORPHANET:478	WDR11	55717	HP:0001288	Gait disturbance
ORPHANET:478	WDR11	55717	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	WDR11	55717	HP:0000830	Anterior hypopituitarism
ORPHANET:478	WDR11	55717	HP:0001252	Muscular hypotonia
ORPHANET:478	WDR11	55717	HP:0000144	Decreased fertility
ORPHANET:478	WDR11	55717	HP:0001250	Seizures
ORPHANET:478	WDR11	55717	HP:0004349	Reduced bone mineral density
ORPHANET:478	WDR11	55717	HP:0001337	Tremor
ORPHANET:478	WDR11	55717	HP:0002167	Neurological speech impairment
ORPHANET:478	WDR11	55717	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	WDR11	55717	HP:0000786	Primary amenorrhea
ORPHANET:478	WDR11	55717	HP:0001513	Obesity
ORPHANET:478	WDR11	55717	HP:0000508	Ptosis
ORPHANET:478	WDR11	55717	HP:0008064	Ichthyosis
ORPHANET:478	WDR11	55717	HP:0002311	Incoordination
ORPHANET:478	SOX10	6663	HP:0002652	Skeletal dysplasia
ORPHANET:478	SOX10	6663	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	SOX10	6663	HP:0001324	Muscle weakness
ORPHANET:478	SOX10	6663	HP:0000551	Abnormality of color vision
ORPHANET:478	SOX10	6663	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	SOX10	6663	HP:0001761	Pes cavus
ORPHANET:478	SOX10	6663	HP:0000505	Visual impairment
ORPHANET:478	SOX10	6663	HP:0009804	Reduced number of teeth
ORPHANET:478	SOX10	6663	HP:0002750	Delayed skeletal maturation
ORPHANET:478	SOX10	6663	HP:0000639	Nystagmus
ORPHANET:478	SOX10	6663	HP:0002757	Recurrent fractures
ORPHANET:478	SOX10	6663	HP:0001608	Abnormality of the voice
ORPHANET:478	SOX10	6663	HP:0000028	Cryptorchidism
ORPHANET:478	SOX10	6663	HP:0001838	Rocker bottom foot
ORPHANET:478	SOX10	6663	HP:0008736	Hypoplasia of penis
ORPHANET:478	SOX10	6663	HP:0000175	Cleft palate
ORPHANET:478	SOX10	6663	HP:0001288	Gait disturbance
ORPHANET:478	SOX10	6663	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	SOX10	6663	HP:0000830	Anterior hypopituitarism
ORPHANET:478	SOX10	6663	HP:0001252	Muscular hypotonia
ORPHANET:478	SOX10	6663	HP:0000144	Decreased fertility
ORPHANET:478	SOX10	6663	HP:0001250	Seizures
ORPHANET:478	SOX10	6663	HP:0004349	Reduced bone mineral density
ORPHANET:478	SOX10	6663	HP:0001337	Tremor
ORPHANET:478	SOX10	6663	HP:0002167	Neurological speech impairment
ORPHANET:478	SOX10	6663	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	SOX10	6663	HP:0000786	Primary amenorrhea
ORPHANET:478	SOX10	6663	HP:0001513	Obesity
ORPHANET:478	SOX10	6663	HP:0000508	Ptosis
ORPHANET:478	SOX10	6663	HP:0008064	Ichthyosis
ORPHANET:478	SOX10	6663	HP:0002311	Incoordination
ORPHANET:478	FEZF1	389549	HP:0002652	Skeletal dysplasia
ORPHANET:478	FEZF1	389549	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	FEZF1	389549	HP:0001324	Muscle weakness
ORPHANET:478	FEZF1	389549	HP:0000551	Abnormality of color vision
ORPHANET:478	FEZF1	389549	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	FEZF1	389549	HP:0001761	Pes cavus
ORPHANET:478	FEZF1	389549	HP:0000505	Visual impairment
ORPHANET:478	FEZF1	389549	HP:0009804	Reduced number of teeth
ORPHANET:478	FEZF1	389549	HP:0002750	Delayed skeletal maturation
ORPHANET:478	FEZF1	389549	HP:0000639	Nystagmus
ORPHANET:478	FEZF1	389549	HP:0002757	Recurrent fractures
ORPHANET:478	FEZF1	389549	HP:0001608	Abnormality of the voice
ORPHANET:478	FEZF1	389549	HP:0000028	Cryptorchidism
ORPHANET:478	FEZF1	389549	HP:0001838	Rocker bottom foot
ORPHANET:478	FEZF1	389549	HP:0008736	Hypoplasia of penis
ORPHANET:478	FEZF1	389549	HP:0000175	Cleft palate
ORPHANET:478	FEZF1	389549	HP:0001288	Gait disturbance
ORPHANET:478	FEZF1	389549	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	FEZF1	389549	HP:0000830	Anterior hypopituitarism
ORPHANET:478	FEZF1	389549	HP:0001252	Muscular hypotonia
ORPHANET:478	FEZF1	389549	HP:0000144	Decreased fertility
ORPHANET:478	FEZF1	389549	HP:0001250	Seizures
ORPHANET:478	FEZF1	389549	HP:0004349	Reduced bone mineral density
ORPHANET:478	FEZF1	389549	HP:0001337	Tremor
ORPHANET:478	FEZF1	389549	HP:0002167	Neurological speech impairment
ORPHANET:478	FEZF1	389549	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	FEZF1	389549	HP:0000786	Primary amenorrhea
ORPHANET:478	FEZF1	389549	HP:0001513	Obesity
ORPHANET:478	FEZF1	389549	HP:0000508	Ptosis
ORPHANET:478	FEZF1	389549	HP:0008064	Ichthyosis
ORPHANET:478	FEZF1	389549	HP:0002311	Incoordination
ORPHANET:478	FGF8	2253	HP:0002652	Skeletal dysplasia
ORPHANET:478	FGF8	2253	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	FGF8	2253	HP:0001324	Muscle weakness
ORPHANET:478	FGF8	2253	HP:0000551	Abnormality of color vision
ORPHANET:478	FGF8	2253	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	FGF8	2253	HP:0001761	Pes cavus
ORPHANET:478	FGF8	2253	HP:0000505	Visual impairment
ORPHANET:478	FGF8	2253	HP:0009804	Reduced number of teeth
ORPHANET:478	FGF8	2253	HP:0002750	Delayed skeletal maturation
ORPHANET:478	FGF8	2253	HP:0000639	Nystagmus
ORPHANET:478	FGF8	2253	HP:0002757	Recurrent fractures
ORPHANET:478	FGF8	2253	HP:0001608	Abnormality of the voice
ORPHANET:478	FGF8	2253	HP:0000028	Cryptorchidism
ORPHANET:478	FGF8	2253	HP:0001838	Rocker bottom foot
ORPHANET:478	FGF8	2253	HP:0008736	Hypoplasia of penis
ORPHANET:478	FGF8	2253	HP:0000175	Cleft palate
ORPHANET:478	FGF8	2253	HP:0001288	Gait disturbance
ORPHANET:478	FGF8	2253	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	FGF8	2253	HP:0000830	Anterior hypopituitarism
ORPHANET:478	FGF8	2253	HP:0001252	Muscular hypotonia
ORPHANET:478	FGF8	2253	HP:0000144	Decreased fertility
ORPHANET:478	FGF8	2253	HP:0001250	Seizures
ORPHANET:478	FGF8	2253	HP:0004349	Reduced bone mineral density
ORPHANET:478	FGF8	2253	HP:0001337	Tremor
ORPHANET:478	FGF8	2253	HP:0002167	Neurological speech impairment
ORPHANET:478	FGF8	2253	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	FGF8	2253	HP:0000786	Primary amenorrhea
ORPHANET:478	FGF8	2253	HP:0001513	Obesity
ORPHANET:478	FGF8	2253	HP:0000508	Ptosis
ORPHANET:478	FGF8	2253	HP:0008064	Ichthyosis
ORPHANET:478	FGF8	2253	HP:0002311	Incoordination
ORPHANET:478	ANOS1	3730	HP:0002652	Skeletal dysplasia
ORPHANET:478	ANOS1	3730	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	ANOS1	3730	HP:0001324	Muscle weakness
ORPHANET:478	ANOS1	3730	HP:0000551	Abnormality of color vision
ORPHANET:478	ANOS1	3730	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	ANOS1	3730	HP:0001761	Pes cavus
ORPHANET:478	ANOS1	3730	HP:0000505	Visual impairment
ORPHANET:478	ANOS1	3730	HP:0009804	Reduced number of teeth
ORPHANET:478	ANOS1	3730	HP:0002750	Delayed skeletal maturation
ORPHANET:478	ANOS1	3730	HP:0000639	Nystagmus
ORPHANET:478	ANOS1	3730	HP:0002757	Recurrent fractures
ORPHANET:478	ANOS1	3730	HP:0001608	Abnormality of the voice
ORPHANET:478	ANOS1	3730	HP:0000028	Cryptorchidism
ORPHANET:478	ANOS1	3730	HP:0001838	Rocker bottom foot
ORPHANET:478	ANOS1	3730	HP:0008736	Hypoplasia of penis
ORPHANET:478	ANOS1	3730	HP:0000175	Cleft palate
ORPHANET:478	ANOS1	3730	HP:0001288	Gait disturbance
ORPHANET:478	ANOS1	3730	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	ANOS1	3730	HP:0000830	Anterior hypopituitarism
ORPHANET:478	ANOS1	3730	HP:0001252	Muscular hypotonia
ORPHANET:478	ANOS1	3730	HP:0000144	Decreased fertility
ORPHANET:478	ANOS1	3730	HP:0001250	Seizures
ORPHANET:478	ANOS1	3730	HP:0004349	Reduced bone mineral density
ORPHANET:478	ANOS1	3730	HP:0001337	Tremor
ORPHANET:478	ANOS1	3730	HP:0002167	Neurological speech impairment
ORPHANET:478	ANOS1	3730	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	ANOS1	3730	HP:0000786	Primary amenorrhea
ORPHANET:478	ANOS1	3730	HP:0001513	Obesity
ORPHANET:478	ANOS1	3730	HP:0000508	Ptosis
ORPHANET:478	ANOS1	3730	HP:0008064	Ichthyosis
ORPHANET:478	ANOS1	3730	HP:0002311	Incoordination
ORPHANET:478	HS6ST1	9394	HP:0002652	Skeletal dysplasia
ORPHANET:478	HS6ST1	9394	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	HS6ST1	9394	HP:0001324	Muscle weakness
ORPHANET:478	HS6ST1	9394	HP:0000551	Abnormality of color vision
ORPHANET:478	HS6ST1	9394	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	HS6ST1	9394	HP:0001761	Pes cavus
ORPHANET:478	HS6ST1	9394	HP:0000505	Visual impairment
ORPHANET:478	HS6ST1	9394	HP:0009804	Reduced number of teeth
ORPHANET:478	HS6ST1	9394	HP:0002750	Delayed skeletal maturation
ORPHANET:478	HS6ST1	9394	HP:0000639	Nystagmus
ORPHANET:478	HS6ST1	9394	HP:0002757	Recurrent fractures
ORPHANET:478	HS6ST1	9394	HP:0001608	Abnormality of the voice
ORPHANET:478	HS6ST1	9394	HP:0000028	Cryptorchidism
ORPHANET:478	HS6ST1	9394	HP:0001838	Rocker bottom foot
ORPHANET:478	HS6ST1	9394	HP:0008736	Hypoplasia of penis
ORPHANET:478	HS6ST1	9394	HP:0000175	Cleft palate
ORPHANET:478	HS6ST1	9394	HP:0001288	Gait disturbance
ORPHANET:478	HS6ST1	9394	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	HS6ST1	9394	HP:0000830	Anterior hypopituitarism
ORPHANET:478	HS6ST1	9394	HP:0001252	Muscular hypotonia
ORPHANET:478	HS6ST1	9394	HP:0000144	Decreased fertility
ORPHANET:478	HS6ST1	9394	HP:0001250	Seizures
ORPHANET:478	HS6ST1	9394	HP:0004349	Reduced bone mineral density
ORPHANET:478	HS6ST1	9394	HP:0001337	Tremor
ORPHANET:478	HS6ST1	9394	HP:0002167	Neurological speech impairment
ORPHANET:478	HS6ST1	9394	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	HS6ST1	9394	HP:0000786	Primary amenorrhea
ORPHANET:478	HS6ST1	9394	HP:0001513	Obesity
ORPHANET:478	HS6ST1	9394	HP:0000508	Ptosis
ORPHANET:478	HS6ST1	9394	HP:0008064	Ichthyosis
ORPHANET:478	HS6ST1	9394	HP:0002311	Incoordination
ORPHANET:478	CHD7	55636	HP:0002652	Skeletal dysplasia
ORPHANET:478	CHD7	55636	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	CHD7	55636	HP:0001324	Muscle weakness
ORPHANET:478	CHD7	55636	HP:0000551	Abnormality of color vision
ORPHANET:478	CHD7	55636	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	CHD7	55636	HP:0001761	Pes cavus
ORPHANET:478	CHD7	55636	HP:0000505	Visual impairment
ORPHANET:478	CHD7	55636	HP:0009804	Reduced number of teeth
ORPHANET:478	CHD7	55636	HP:0002750	Delayed skeletal maturation
ORPHANET:478	CHD7	55636	HP:0000639	Nystagmus
ORPHANET:478	CHD7	55636	HP:0002757	Recurrent fractures
ORPHANET:478	CHD7	55636	HP:0001608	Abnormality of the voice
ORPHANET:478	CHD7	55636	HP:0000028	Cryptorchidism
ORPHANET:478	CHD7	55636	HP:0001838	Rocker bottom foot
ORPHANET:478	CHD7	55636	HP:0008736	Hypoplasia of penis
ORPHANET:478	CHD7	55636	HP:0000175	Cleft palate
ORPHANET:478	CHD7	55636	HP:0001288	Gait disturbance
ORPHANET:478	CHD7	55636	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	CHD7	55636	HP:0000830	Anterior hypopituitarism
ORPHANET:478	CHD7	55636	HP:0001252	Muscular hypotonia
ORPHANET:478	CHD7	55636	HP:0000144	Decreased fertility
ORPHANET:478	CHD7	55636	HP:0001250	Seizures
ORPHANET:478	CHD7	55636	HP:0004349	Reduced bone mineral density
ORPHANET:478	CHD7	55636	HP:0001337	Tremor
ORPHANET:478	CHD7	55636	HP:0002167	Neurological speech impairment
ORPHANET:478	CHD7	55636	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	CHD7	55636	HP:0000786	Primary amenorrhea
ORPHANET:478	CHD7	55636	HP:0001513	Obesity
ORPHANET:478	CHD7	55636	HP:0000508	Ptosis
ORPHANET:478	CHD7	55636	HP:0008064	Ichthyosis
ORPHANET:478	CHD7	55636	HP:0002311	Incoordination
ORPHANET:478	FGFR1	2260	HP:0002652	Skeletal dysplasia
ORPHANET:478	FGFR1	2260	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	FGFR1	2260	HP:0001324	Muscle weakness
ORPHANET:478	FGFR1	2260	HP:0000551	Abnormality of color vision
ORPHANET:478	FGFR1	2260	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	FGFR1	2260	HP:0001761	Pes cavus
ORPHANET:478	FGFR1	2260	HP:0000505	Visual impairment
ORPHANET:478	FGFR1	2260	HP:0009804	Reduced number of teeth
ORPHANET:478	FGFR1	2260	HP:0002750	Delayed skeletal maturation
ORPHANET:478	FGFR1	2260	HP:0000639	Nystagmus
ORPHANET:478	FGFR1	2260	HP:0002757	Recurrent fractures
ORPHANET:478	FGFR1	2260	HP:0001608	Abnormality of the voice
ORPHANET:478	FGFR1	2260	HP:0000028	Cryptorchidism
ORPHANET:478	FGFR1	2260	HP:0001838	Rocker bottom foot
ORPHANET:478	FGFR1	2260	HP:0008736	Hypoplasia of penis
ORPHANET:478	FGFR1	2260	HP:0000175	Cleft palate
ORPHANET:478	FGFR1	2260	HP:0001288	Gait disturbance
ORPHANET:478	FGFR1	2260	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	FGFR1	2260	HP:0000830	Anterior hypopituitarism
ORPHANET:478	FGFR1	2260	HP:0001252	Muscular hypotonia
ORPHANET:478	FGFR1	2260	HP:0000144	Decreased fertility
ORPHANET:478	FGFR1	2260	HP:0001250	Seizures
ORPHANET:478	FGFR1	2260	HP:0004349	Reduced bone mineral density
ORPHANET:478	FGFR1	2260	HP:0001337	Tremor
ORPHANET:478	FGFR1	2260	HP:0002167	Neurological speech impairment
ORPHANET:478	FGFR1	2260	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	FGFR1	2260	HP:0000786	Primary amenorrhea
ORPHANET:478	FGFR1	2260	HP:0001513	Obesity
ORPHANET:478	FGFR1	2260	HP:0000508	Ptosis
ORPHANET:478	FGFR1	2260	HP:0008064	Ichthyosis
ORPHANET:478	FGFR1	2260	HP:0002311	Incoordination
ORPHANET:478	HESX1	8820	HP:0002652	Skeletal dysplasia
ORPHANET:478	HESX1	8820	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	HESX1	8820	HP:0001324	Muscle weakness
ORPHANET:478	HESX1	8820	HP:0000551	Abnormality of color vision
ORPHANET:478	HESX1	8820	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	HESX1	8820	HP:0001761	Pes cavus
ORPHANET:478	HESX1	8820	HP:0000505	Visual impairment
ORPHANET:478	HESX1	8820	HP:0009804	Reduced number of teeth
ORPHANET:478	HESX1	8820	HP:0002750	Delayed skeletal maturation
ORPHANET:478	HESX1	8820	HP:0000639	Nystagmus
ORPHANET:478	HESX1	8820	HP:0002757	Recurrent fractures
ORPHANET:478	HESX1	8820	HP:0001608	Abnormality of the voice
ORPHANET:478	HESX1	8820	HP:0000028	Cryptorchidism
ORPHANET:478	HESX1	8820	HP:0001838	Rocker bottom foot
ORPHANET:478	HESX1	8820	HP:0008736	Hypoplasia of penis
ORPHANET:478	HESX1	8820	HP:0000175	Cleft palate
ORPHANET:478	HESX1	8820	HP:0001288	Gait disturbance
ORPHANET:478	HESX1	8820	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	HESX1	8820	HP:0000830	Anterior hypopituitarism
ORPHANET:478	HESX1	8820	HP:0001252	Muscular hypotonia
ORPHANET:478	HESX1	8820	HP:0000144	Decreased fertility
ORPHANET:478	HESX1	8820	HP:0001250	Seizures
ORPHANET:478	HESX1	8820	HP:0004349	Reduced bone mineral density
ORPHANET:478	HESX1	8820	HP:0001337	Tremor
ORPHANET:478	HESX1	8820	HP:0002167	Neurological speech impairment
ORPHANET:478	HESX1	8820	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	HESX1	8820	HP:0000786	Primary amenorrhea
ORPHANET:478	HESX1	8820	HP:0001513	Obesity
ORPHANET:478	HESX1	8820	HP:0000508	Ptosis
ORPHANET:478	HESX1	8820	HP:0008064	Ichthyosis
ORPHANET:478	HESX1	8820	HP:0002311	Incoordination
ORPHANET:478	TACR3	6870	HP:0002652	Skeletal dysplasia
ORPHANET:478	TACR3	6870	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	TACR3	6870	HP:0001324	Muscle weakness
ORPHANET:478	TACR3	6870	HP:0000551	Abnormality of color vision
ORPHANET:478	TACR3	6870	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	TACR3	6870	HP:0001761	Pes cavus
ORPHANET:478	TACR3	6870	HP:0000505	Visual impairment
ORPHANET:478	TACR3	6870	HP:0009804	Reduced number of teeth
ORPHANET:478	TACR3	6870	HP:0002750	Delayed skeletal maturation
ORPHANET:478	TACR3	6870	HP:0000639	Nystagmus
ORPHANET:478	TACR3	6870	HP:0002757	Recurrent fractures
ORPHANET:478	TACR3	6870	HP:0001608	Abnormality of the voice
ORPHANET:478	TACR3	6870	HP:0000028	Cryptorchidism
ORPHANET:478	TACR3	6870	HP:0001838	Rocker bottom foot
ORPHANET:478	TACR3	6870	HP:0008736	Hypoplasia of penis
ORPHANET:478	TACR3	6870	HP:0000175	Cleft palate
ORPHANET:478	TACR3	6870	HP:0001288	Gait disturbance
ORPHANET:478	TACR3	6870	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	TACR3	6870	HP:0000830	Anterior hypopituitarism
ORPHANET:478	TACR3	6870	HP:0001252	Muscular hypotonia
ORPHANET:478	TACR3	6870	HP:0000144	Decreased fertility
ORPHANET:478	TACR3	6870	HP:0001250	Seizures
ORPHANET:478	TACR3	6870	HP:0004349	Reduced bone mineral density
ORPHANET:478	TACR3	6870	HP:0001337	Tremor
ORPHANET:478	TACR3	6870	HP:0002167	Neurological speech impairment
ORPHANET:478	TACR3	6870	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	TACR3	6870	HP:0000786	Primary amenorrhea
ORPHANET:478	TACR3	6870	HP:0001513	Obesity
ORPHANET:478	TACR3	6870	HP:0000508	Ptosis
ORPHANET:478	TACR3	6870	HP:0008064	Ichthyosis
ORPHANET:478	TACR3	6870	HP:0002311	Incoordination
ORPHANET:478	FGF17	8822	HP:0002652	Skeletal dysplasia
ORPHANET:478	FGF17	8822	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	FGF17	8822	HP:0001324	Muscle weakness
ORPHANET:478	FGF17	8822	HP:0000551	Abnormality of color vision
ORPHANET:478	FGF17	8822	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	FGF17	8822	HP:0001761	Pes cavus
ORPHANET:478	FGF17	8822	HP:0000505	Visual impairment
ORPHANET:478	FGF17	8822	HP:0009804	Reduced number of teeth
ORPHANET:478	FGF17	8822	HP:0002750	Delayed skeletal maturation
ORPHANET:478	FGF17	8822	HP:0000639	Nystagmus
ORPHANET:478	FGF17	8822	HP:0002757	Recurrent fractures
ORPHANET:478	FGF17	8822	HP:0001608	Abnormality of the voice
ORPHANET:478	FGF17	8822	HP:0000028	Cryptorchidism
ORPHANET:478	FGF17	8822	HP:0001838	Rocker bottom foot
ORPHANET:478	FGF17	8822	HP:0008736	Hypoplasia of penis
ORPHANET:478	FGF17	8822	HP:0000175	Cleft palate
ORPHANET:478	FGF17	8822	HP:0001288	Gait disturbance
ORPHANET:478	FGF17	8822	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	FGF17	8822	HP:0000830	Anterior hypopituitarism
ORPHANET:478	FGF17	8822	HP:0001252	Muscular hypotonia
ORPHANET:478	FGF17	8822	HP:0000144	Decreased fertility
ORPHANET:478	FGF17	8822	HP:0001250	Seizures
ORPHANET:478	FGF17	8822	HP:0004349	Reduced bone mineral density
ORPHANET:478	FGF17	8822	HP:0001337	Tremor
ORPHANET:478	FGF17	8822	HP:0002167	Neurological speech impairment
ORPHANET:478	FGF17	8822	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	FGF17	8822	HP:0000786	Primary amenorrhea
ORPHANET:478	FGF17	8822	HP:0001513	Obesity
ORPHANET:478	FGF17	8822	HP:0000508	Ptosis
ORPHANET:478	FGF17	8822	HP:0008064	Ichthyosis
ORPHANET:478	FGF17	8822	HP:0002311	Incoordination
ORPHANET:478	FLRT3	23767	HP:0002652	Skeletal dysplasia
ORPHANET:478	FLRT3	23767	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	FLRT3	23767	HP:0001324	Muscle weakness
ORPHANET:478	FLRT3	23767	HP:0000551	Abnormality of color vision
ORPHANET:478	FLRT3	23767	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	FLRT3	23767	HP:0001761	Pes cavus
ORPHANET:478	FLRT3	23767	HP:0000505	Visual impairment
ORPHANET:478	FLRT3	23767	HP:0009804	Reduced number of teeth
ORPHANET:478	FLRT3	23767	HP:0002750	Delayed skeletal maturation
ORPHANET:478	FLRT3	23767	HP:0000639	Nystagmus
ORPHANET:478	FLRT3	23767	HP:0002757	Recurrent fractures
ORPHANET:478	FLRT3	23767	HP:0001608	Abnormality of the voice
ORPHANET:478	FLRT3	23767	HP:0000028	Cryptorchidism
ORPHANET:478	FLRT3	23767	HP:0001838	Rocker bottom foot
ORPHANET:478	FLRT3	23767	HP:0008736	Hypoplasia of penis
ORPHANET:478	FLRT3	23767	HP:0000175	Cleft palate
ORPHANET:478	FLRT3	23767	HP:0001288	Gait disturbance
ORPHANET:478	FLRT3	23767	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	FLRT3	23767	HP:0000830	Anterior hypopituitarism
ORPHANET:478	FLRT3	23767	HP:0001252	Muscular hypotonia
ORPHANET:478	FLRT3	23767	HP:0000144	Decreased fertility
ORPHANET:478	FLRT3	23767	HP:0001250	Seizures
ORPHANET:478	FLRT3	23767	HP:0004349	Reduced bone mineral density
ORPHANET:478	FLRT3	23767	HP:0001337	Tremor
ORPHANET:478	FLRT3	23767	HP:0002167	Neurological speech impairment
ORPHANET:478	FLRT3	23767	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	FLRT3	23767	HP:0000786	Primary amenorrhea
ORPHANET:478	FLRT3	23767	HP:0001513	Obesity
ORPHANET:478	FLRT3	23767	HP:0000508	Ptosis
ORPHANET:478	FLRT3	23767	HP:0008064	Ichthyosis
ORPHANET:478	FLRT3	23767	HP:0002311	Incoordination
ORPHANET:478	DUSP6	1848	HP:0002652	Skeletal dysplasia
ORPHANET:478	DUSP6	1848	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	DUSP6	1848	HP:0001324	Muscle weakness
ORPHANET:478	DUSP6	1848	HP:0000551	Abnormality of color vision
ORPHANET:478	DUSP6	1848	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	DUSP6	1848	HP:0001761	Pes cavus
ORPHANET:478	DUSP6	1848	HP:0000505	Visual impairment
ORPHANET:478	DUSP6	1848	HP:0009804	Reduced number of teeth
ORPHANET:478	DUSP6	1848	HP:0002750	Delayed skeletal maturation
ORPHANET:478	DUSP6	1848	HP:0000639	Nystagmus
ORPHANET:478	DUSP6	1848	HP:0002757	Recurrent fractures
ORPHANET:478	DUSP6	1848	HP:0001608	Abnormality of the voice
ORPHANET:478	DUSP6	1848	HP:0000028	Cryptorchidism
ORPHANET:478	DUSP6	1848	HP:0001838	Rocker bottom foot
ORPHANET:478	DUSP6	1848	HP:0008736	Hypoplasia of penis
ORPHANET:478	DUSP6	1848	HP:0000175	Cleft palate
ORPHANET:478	DUSP6	1848	HP:0001288	Gait disturbance
ORPHANET:478	DUSP6	1848	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	DUSP6	1848	HP:0000830	Anterior hypopituitarism
ORPHANET:478	DUSP6	1848	HP:0001252	Muscular hypotonia
ORPHANET:478	DUSP6	1848	HP:0000144	Decreased fertility
ORPHANET:478	DUSP6	1848	HP:0001250	Seizures
ORPHANET:478	DUSP6	1848	HP:0004349	Reduced bone mineral density
ORPHANET:478	DUSP6	1848	HP:0001337	Tremor
ORPHANET:478	DUSP6	1848	HP:0002167	Neurological speech impairment
ORPHANET:478	DUSP6	1848	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	DUSP6	1848	HP:0000786	Primary amenorrhea
ORPHANET:478	DUSP6	1848	HP:0001513	Obesity
ORPHANET:478	DUSP6	1848	HP:0000508	Ptosis
ORPHANET:478	DUSP6	1848	HP:0008064	Ichthyosis
ORPHANET:478	DUSP6	1848	HP:0002311	Incoordination
ORPHANET:478	SPRY4	81848	HP:0002652	Skeletal dysplasia
ORPHANET:478	SPRY4	81848	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	SPRY4	81848	HP:0001324	Muscle weakness
ORPHANET:478	SPRY4	81848	HP:0000551	Abnormality of color vision
ORPHANET:478	SPRY4	81848	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	SPRY4	81848	HP:0001761	Pes cavus
ORPHANET:478	SPRY4	81848	HP:0000505	Visual impairment
ORPHANET:478	SPRY4	81848	HP:0009804	Reduced number of teeth
ORPHANET:478	SPRY4	81848	HP:0002750	Delayed skeletal maturation
ORPHANET:478	SPRY4	81848	HP:0000639	Nystagmus
ORPHANET:478	SPRY4	81848	HP:0002757	Recurrent fractures
ORPHANET:478	SPRY4	81848	HP:0001608	Abnormality of the voice
ORPHANET:478	SPRY4	81848	HP:0000028	Cryptorchidism
ORPHANET:478	SPRY4	81848	HP:0001838	Rocker bottom foot
ORPHANET:478	SPRY4	81848	HP:0008736	Hypoplasia of penis
ORPHANET:478	SPRY4	81848	HP:0000175	Cleft palate
ORPHANET:478	SPRY4	81848	HP:0001288	Gait disturbance
ORPHANET:478	SPRY4	81848	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	SPRY4	81848	HP:0000830	Anterior hypopituitarism
ORPHANET:478	SPRY4	81848	HP:0001252	Muscular hypotonia
ORPHANET:478	SPRY4	81848	HP:0000144	Decreased fertility
ORPHANET:478	SPRY4	81848	HP:0001250	Seizures
ORPHANET:478	SPRY4	81848	HP:0004349	Reduced bone mineral density
ORPHANET:478	SPRY4	81848	HP:0001337	Tremor
ORPHANET:478	SPRY4	81848	HP:0002167	Neurological speech impairment
ORPHANET:478	SPRY4	81848	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	SPRY4	81848	HP:0000786	Primary amenorrhea
ORPHANET:478	SPRY4	81848	HP:0001513	Obesity
ORPHANET:478	SPRY4	81848	HP:0000508	Ptosis
ORPHANET:478	SPRY4	81848	HP:0008064	Ichthyosis
ORPHANET:478	SPRY4	81848	HP:0002311	Incoordination
ORPHANET:478	KISS1R	84634	HP:0002652	Skeletal dysplasia
ORPHANET:478	KISS1R	84634	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	KISS1R	84634	HP:0001324	Muscle weakness
ORPHANET:478	KISS1R	84634	HP:0000551	Abnormality of color vision
ORPHANET:478	KISS1R	84634	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	KISS1R	84634	HP:0001761	Pes cavus
ORPHANET:478	KISS1R	84634	HP:0000505	Visual impairment
ORPHANET:478	KISS1R	84634	HP:0009804	Reduced number of teeth
ORPHANET:478	KISS1R	84634	HP:0002750	Delayed skeletal maturation
ORPHANET:478	KISS1R	84634	HP:0000639	Nystagmus
ORPHANET:478	KISS1R	84634	HP:0002757	Recurrent fractures
ORPHANET:478	KISS1R	84634	HP:0001608	Abnormality of the voice
ORPHANET:478	KISS1R	84634	HP:0000028	Cryptorchidism
ORPHANET:478	KISS1R	84634	HP:0001838	Rocker bottom foot
ORPHANET:478	KISS1R	84634	HP:0008736	Hypoplasia of penis
ORPHANET:478	KISS1R	84634	HP:0000175	Cleft palate
ORPHANET:478	KISS1R	84634	HP:0001288	Gait disturbance
ORPHANET:478	KISS1R	84634	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	KISS1R	84634	HP:0000830	Anterior hypopituitarism
ORPHANET:478	KISS1R	84634	HP:0001252	Muscular hypotonia
ORPHANET:478	KISS1R	84634	HP:0000144	Decreased fertility
ORPHANET:478	KISS1R	84634	HP:0001250	Seizures
ORPHANET:478	KISS1R	84634	HP:0004349	Reduced bone mineral density
ORPHANET:478	KISS1R	84634	HP:0001337	Tremor
ORPHANET:478	KISS1R	84634	HP:0002167	Neurological speech impairment
ORPHANET:478	KISS1R	84634	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	KISS1R	84634	HP:0000786	Primary amenorrhea
ORPHANET:478	KISS1R	84634	HP:0001513	Obesity
ORPHANET:478	KISS1R	84634	HP:0000508	Ptosis
ORPHANET:478	KISS1R	84634	HP:0008064	Ichthyosis
ORPHANET:478	KISS1R	84634	HP:0002311	Incoordination
ORPHANET:478	NSMF	26012	HP:0002652	Skeletal dysplasia
ORPHANET:478	NSMF	26012	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:478	NSMF	26012	HP:0001324	Muscle weakness
ORPHANET:478	NSMF	26012	HP:0000551	Abnormality of color vision
ORPHANET:478	NSMF	26012	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:478	NSMF	26012	HP:0001761	Pes cavus
ORPHANET:478	NSMF	26012	HP:0000505	Visual impairment
ORPHANET:478	NSMF	26012	HP:0009804	Reduced number of teeth
ORPHANET:478	NSMF	26012	HP:0002750	Delayed skeletal maturation
ORPHANET:478	NSMF	26012	HP:0000639	Nystagmus
ORPHANET:478	NSMF	26012	HP:0002757	Recurrent fractures
ORPHANET:478	NSMF	26012	HP:0001608	Abnormality of the voice
ORPHANET:478	NSMF	26012	HP:0000028	Cryptorchidism
ORPHANET:478	NSMF	26012	HP:0001838	Rocker bottom foot
ORPHANET:478	NSMF	26012	HP:0008736	Hypoplasia of penis
ORPHANET:478	NSMF	26012	HP:0000175	Cleft palate
ORPHANET:478	NSMF	26012	HP:0001288	Gait disturbance
ORPHANET:478	NSMF	26012	HP:0004408	Abnormality of the sense of smell
ORPHANET:478	NSMF	26012	HP:0000830	Anterior hypopituitarism
ORPHANET:478	NSMF	26012	HP:0001252	Muscular hypotonia
ORPHANET:478	NSMF	26012	HP:0000144	Decreased fertility
ORPHANET:478	NSMF	26012	HP:0001250	Seizures
ORPHANET:478	NSMF	26012	HP:0004349	Reduced bone mineral density
ORPHANET:478	NSMF	26012	HP:0001337	Tremor
ORPHANET:478	NSMF	26012	HP:0002167	Neurological speech impairment
ORPHANET:478	NSMF	26012	HP:0000407	Sensorineural hearing impairment
ORPHANET:478	NSMF	26012	HP:0000786	Primary amenorrhea
ORPHANET:478	NSMF	26012	HP:0001513	Obesity
ORPHANET:478	NSMF	26012	HP:0000508	Ptosis
ORPHANET:478	NSMF	26012	HP:0008064	Ichthyosis
ORPHANET:478	NSMF	26012	HP:0002311	Incoordination
OMIM:613575	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613575	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613575	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613575	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613575	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613575	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613575	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613575	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613575	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613575	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613575	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613575	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613575	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613575	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613575	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613575	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613575	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613575	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613575	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613575	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613575	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613575	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613575	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613575	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613575	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613575	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613575	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613575	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613575	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613575	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613575	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613575	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613575	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613575	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613575	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613575	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613575	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613575	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613575	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613575	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613575	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613575	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613575	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613575	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613575	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613575	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613575	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613575	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613575	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613575	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613575	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613575	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613575	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613575	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613575	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613575	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613575	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613575	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613575	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613575	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613575	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613575	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613575	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613575	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613575	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613575	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613575	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613575	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613575	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613575	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613575	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613575	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613575	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613575	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613575	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613575	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613575	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613575	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613575	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613575	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613575	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613575	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613575	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613575	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613575	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613575	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613575	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613575	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613575	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613575	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613575	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613575	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613575	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613575	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613575	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613575	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613575	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613575	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613575	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613575	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613575	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613575	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613575	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613575	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613575	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613575	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613575	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613575	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613575	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613575	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613575	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613575	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613575	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613575	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613575	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613575	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613575	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613575	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613575	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613575	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613575	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613575	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613575	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613575	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613575	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613575	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613575	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:266920	IFT172	26160	HP:0010579	Cone-shaped epiphysis
OMIM:266920	IFT172	26160	HP:0000773	Short ribs
OMIM:266920	IFT172	26160	HP:0000112	Nephropathy
OMIM:266920	IFT172	26160	HP:0001363	Craniosynostosis
OMIM:266920	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:266920	IFT172	26160	HP:0100543	Cognitive impairment
OMIM:266920	IFT172	26160	HP:0000639	Nystagmus
OMIM:266920	IFT172	26160	HP:0000572	Visual loss
OMIM:266920	IFT172	26160	HP:0001251	Ataxia
OMIM:266920	IFT172	26160	HP:0001395	Hepatic fibrosis
OMIM:266920	IFT172	26160	HP:0001396	Cholestasis
OMIM:266920	IFT172	26160	HP:0003593	Infantile onset
OMIM:266920	IFT172	26160	HP:0000252	Microcephaly
OMIM:266920	IFT172	26160	HP:0003774	Stage 5 chronic kidney disease
OMIM:266920	IFT172	26160	HP:0000107	Renal cyst
OMIM:266920	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:266920	IFT172	26160	HP:0004322	Short stature
OMIM:266920	IFT172	26160	HP:0009803	Short phalanx of finger
OMIM:266920	IFT172	26160	HP:0100864	Short femoral neck
OMIM:266920	IFT172	26160	HP:0002240	Hepatomegaly
OMIM:266920	IFT172	26160	HP:0001903	Anemia
OMIM:266920	IFT172	26160	HP:0000090	Nephronophthisis
OMIM:266920	IFT172	26160	HP:0000110	Renal dysplasia
OMIM:266920	IFT140	9742	HP:0010579	Cone-shaped epiphysis
OMIM:266920	IFT140	9742	HP:0000773	Short ribs
OMIM:266920	IFT140	9742	HP:0000112	Nephropathy
OMIM:266920	IFT140	9742	HP:0001363	Craniosynostosis
OMIM:266920	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:266920	IFT140	9742	HP:0100543	Cognitive impairment
OMIM:266920	IFT140	9742	HP:0000639	Nystagmus
OMIM:266920	IFT140	9742	HP:0000572	Visual loss
OMIM:266920	IFT140	9742	HP:0001251	Ataxia
OMIM:266920	IFT140	9742	HP:0001395	Hepatic fibrosis
OMIM:266920	IFT140	9742	HP:0001396	Cholestasis
OMIM:266920	IFT140	9742	HP:0003593	Infantile onset
OMIM:266920	IFT140	9742	HP:0000252	Microcephaly
OMIM:266920	IFT140	9742	HP:0003774	Stage 5 chronic kidney disease
OMIM:266920	IFT140	9742	HP:0000107	Renal cyst
OMIM:266920	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:266920	IFT140	9742	HP:0004322	Short stature
OMIM:266920	IFT140	9742	HP:0009803	Short phalanx of finger
OMIM:266920	IFT140	9742	HP:0100864	Short femoral neck
OMIM:266920	IFT140	9742	HP:0002240	Hepatomegaly
OMIM:266920	IFT140	9742	HP:0001903	Anemia
OMIM:266920	IFT140	9742	HP:0000090	Nephronophthisis
OMIM:266920	IFT140	9742	HP:0000110	Renal dysplasia
OMIM:615040	TRPA1	8989	HP:0003593	Infantile onset
OMIM:615040	TRPA1	8989	HP:0012531	Pain
OMIM:615040	TRPA1	8989	HP:0000006	Autosomal dominant inheritance
OMIM:610915	CREB3L1	90993	HP:0010049	Short metacarpal
OMIM:610915	CREB3L1	90993	HP:0000311	Round face
OMIM:610915	CREB3L1	90993	HP:0002982	Tibial bowing
OMIM:610915	CREB3L1	90993	HP:0001263	Global developmental delay
OMIM:610915	CREB3L1	90993	HP:0000023	Inguinal hernia
OMIM:610915	CREB3L1	90993	HP:0002757	Recurrent fractures
OMIM:610915	CREB3L1	90993	HP:0001552	Barrel-shaped chest
OMIM:610915	CREB3L1	90993	HP:0002808	Kyphosis
OMIM:610915	CREB3L1	90993	HP:0000270	Delayed cranial suture closure
OMIM:610915	CREB3L1	90993	HP:0000926	Platyspondyly
OMIM:610915	CREB3L1	90993	HP:0000007	Autosomal recessive inheritance
OMIM:610915	CREB3L1	90993	HP:0004331	Decreased skull ossification
OMIM:610915	CREB3L1	90993	HP:0000938	Osteopenia
OMIM:610915	CREB3L1	90993	HP:0001388	Joint laxity
OMIM:610915	CREB3L1	90993	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	CREB3L1	90993	HP:0002650	Scoliosis
OMIM:610915	CREB3L1	90993	HP:0002980	Femoral bowing
OMIM:610915	CREB3L1	90993	HP:0002986	Radial bowing
OMIM:610915	CREB3L1	90993	HP:0002645	Wormian bones
OMIM:610915	CREB3L1	90993	HP:0003100	Slender long bone
OMIM:610915	CREB3L1	90993	HP:0000520	Proptosis
OMIM:610915	PPIB	5479	HP:0010049	Short metacarpal
OMIM:610915	PPIB	5479	HP:0000311	Round face
OMIM:610915	PPIB	5479	HP:0002982	Tibial bowing
OMIM:610915	PPIB	5479	HP:0001263	Global developmental delay
OMIM:610915	PPIB	5479	HP:0000023	Inguinal hernia
OMIM:610915	PPIB	5479	HP:0002757	Recurrent fractures
OMIM:610915	PPIB	5479	HP:0001552	Barrel-shaped chest
OMIM:610915	PPIB	5479	HP:0002808	Kyphosis
OMIM:610915	PPIB	5479	HP:0000270	Delayed cranial suture closure
OMIM:610915	PPIB	5479	HP:0000926	Platyspondyly
OMIM:610915	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:610915	PPIB	5479	HP:0004331	Decreased skull ossification
OMIM:610915	PPIB	5479	HP:0000938	Osteopenia
OMIM:610915	PPIB	5479	HP:0001388	Joint laxity
OMIM:610915	PPIB	5479	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	PPIB	5479	HP:0002650	Scoliosis
OMIM:610915	PPIB	5479	HP:0002980	Femoral bowing
OMIM:610915	PPIB	5479	HP:0002986	Radial bowing
OMIM:610915	PPIB	5479	HP:0002645	Wormian bones
OMIM:610915	PPIB	5479	HP:0003100	Slender long bone
OMIM:610915	PPIB	5479	HP:0000520	Proptosis
OMIM:610915	SERPINH1	871	HP:0010049	Short metacarpal
OMIM:610915	SERPINH1	871	HP:0000311	Round face
OMIM:610915	SERPINH1	871	HP:0002982	Tibial bowing
OMIM:610915	SERPINH1	871	HP:0001263	Global developmental delay
OMIM:610915	SERPINH1	871	HP:0000023	Inguinal hernia
OMIM:610915	SERPINH1	871	HP:0002757	Recurrent fractures
OMIM:610915	SERPINH1	871	HP:0001552	Barrel-shaped chest
OMIM:610915	SERPINH1	871	HP:0002808	Kyphosis
OMIM:610915	SERPINH1	871	HP:0000270	Delayed cranial suture closure
OMIM:610915	SERPINH1	871	HP:0000926	Platyspondyly
OMIM:610915	SERPINH1	871	HP:0000007	Autosomal recessive inheritance
OMIM:610915	SERPINH1	871	HP:0004331	Decreased skull ossification
OMIM:610915	SERPINH1	871	HP:0000938	Osteopenia
OMIM:610915	SERPINH1	871	HP:0001388	Joint laxity
OMIM:610915	SERPINH1	871	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	SERPINH1	871	HP:0002650	Scoliosis
OMIM:610915	SERPINH1	871	HP:0002980	Femoral bowing
OMIM:610915	SERPINH1	871	HP:0002986	Radial bowing
OMIM:610915	SERPINH1	871	HP:0002645	Wormian bones
OMIM:610915	SERPINH1	871	HP:0003100	Slender long bone
OMIM:610915	SERPINH1	871	HP:0000520	Proptosis
OMIM:610915	SERPINF1	5176	HP:0010049	Short metacarpal
OMIM:610915	SERPINF1	5176	HP:0000311	Round face
OMIM:610915	SERPINF1	5176	HP:0002982	Tibial bowing
OMIM:610915	SERPINF1	5176	HP:0001263	Global developmental delay
OMIM:610915	SERPINF1	5176	HP:0000023	Inguinal hernia
OMIM:610915	SERPINF1	5176	HP:0002757	Recurrent fractures
OMIM:610915	SERPINF1	5176	HP:0001552	Barrel-shaped chest
OMIM:610915	SERPINF1	5176	HP:0002808	Kyphosis
OMIM:610915	SERPINF1	5176	HP:0000270	Delayed cranial suture closure
OMIM:610915	SERPINF1	5176	HP:0000926	Platyspondyly
OMIM:610915	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:610915	SERPINF1	5176	HP:0004331	Decreased skull ossification
OMIM:610915	SERPINF1	5176	HP:0000938	Osteopenia
OMIM:610915	SERPINF1	5176	HP:0001388	Joint laxity
OMIM:610915	SERPINF1	5176	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	SERPINF1	5176	HP:0002650	Scoliosis
OMIM:610915	SERPINF1	5176	HP:0002980	Femoral bowing
OMIM:610915	SERPINF1	5176	HP:0002986	Radial bowing
OMIM:610915	SERPINF1	5176	HP:0002645	Wormian bones
OMIM:610915	SERPINF1	5176	HP:0003100	Slender long bone
OMIM:610915	SERPINF1	5176	HP:0000520	Proptosis
OMIM:610915	FKBP10	60681	HP:0010049	Short metacarpal
OMIM:610915	FKBP10	60681	HP:0000311	Round face
OMIM:610915	FKBP10	60681	HP:0002982	Tibial bowing
OMIM:610915	FKBP10	60681	HP:0001263	Global developmental delay
OMIM:610915	FKBP10	60681	HP:0000023	Inguinal hernia
OMIM:610915	FKBP10	60681	HP:0002757	Recurrent fractures
OMIM:610915	FKBP10	60681	HP:0001552	Barrel-shaped chest
OMIM:610915	FKBP10	60681	HP:0002808	Kyphosis
OMIM:610915	FKBP10	60681	HP:0000270	Delayed cranial suture closure
OMIM:610915	FKBP10	60681	HP:0000926	Platyspondyly
OMIM:610915	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:610915	FKBP10	60681	HP:0004331	Decreased skull ossification
OMIM:610915	FKBP10	60681	HP:0000938	Osteopenia
OMIM:610915	FKBP10	60681	HP:0001388	Joint laxity
OMIM:610915	FKBP10	60681	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	FKBP10	60681	HP:0002650	Scoliosis
OMIM:610915	FKBP10	60681	HP:0002980	Femoral bowing
OMIM:610915	FKBP10	60681	HP:0002986	Radial bowing
OMIM:610915	FKBP10	60681	HP:0002645	Wormian bones
OMIM:610915	FKBP10	60681	HP:0003100	Slender long bone
OMIM:610915	FKBP10	60681	HP:0000520	Proptosis
OMIM:610915	BMP1	649	HP:0010049	Short metacarpal
OMIM:610915	BMP1	649	HP:0000311	Round face
OMIM:610915	BMP1	649	HP:0002982	Tibial bowing
OMIM:610915	BMP1	649	HP:0001263	Global developmental delay
OMIM:610915	BMP1	649	HP:0000023	Inguinal hernia
OMIM:610915	BMP1	649	HP:0002757	Recurrent fractures
OMIM:610915	BMP1	649	HP:0001552	Barrel-shaped chest
OMIM:610915	BMP1	649	HP:0002808	Kyphosis
OMIM:610915	BMP1	649	HP:0000270	Delayed cranial suture closure
OMIM:610915	BMP1	649	HP:0000926	Platyspondyly
OMIM:610915	BMP1	649	HP:0000007	Autosomal recessive inheritance
OMIM:610915	BMP1	649	HP:0004331	Decreased skull ossification
OMIM:610915	BMP1	649	HP:0000938	Osteopenia
OMIM:610915	BMP1	649	HP:0001388	Joint laxity
OMIM:610915	BMP1	649	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	BMP1	649	HP:0002650	Scoliosis
OMIM:610915	BMP1	649	HP:0002980	Femoral bowing
OMIM:610915	BMP1	649	HP:0002986	Radial bowing
OMIM:610915	BMP1	649	HP:0002645	Wormian bones
OMIM:610915	BMP1	649	HP:0003100	Slender long bone
OMIM:610915	BMP1	649	HP:0000520	Proptosis
OMIM:610915	CRTAP	10491	HP:0010049	Short metacarpal
OMIM:610915	CRTAP	10491	HP:0000311	Round face
OMIM:610915	CRTAP	10491	HP:0002982	Tibial bowing
OMIM:610915	CRTAP	10491	HP:0001263	Global developmental delay
OMIM:610915	CRTAP	10491	HP:0000023	Inguinal hernia
OMIM:610915	CRTAP	10491	HP:0002757	Recurrent fractures
OMIM:610915	CRTAP	10491	HP:0001552	Barrel-shaped chest
OMIM:610915	CRTAP	10491	HP:0002808	Kyphosis
OMIM:610915	CRTAP	10491	HP:0000270	Delayed cranial suture closure
OMIM:610915	CRTAP	10491	HP:0000926	Platyspondyly
OMIM:610915	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:610915	CRTAP	10491	HP:0004331	Decreased skull ossification
OMIM:610915	CRTAP	10491	HP:0000938	Osteopenia
OMIM:610915	CRTAP	10491	HP:0001388	Joint laxity
OMIM:610915	CRTAP	10491	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	CRTAP	10491	HP:0002650	Scoliosis
OMIM:610915	CRTAP	10491	HP:0002980	Femoral bowing
OMIM:610915	CRTAP	10491	HP:0002986	Radial bowing
OMIM:610915	CRTAP	10491	HP:0002645	Wormian bones
OMIM:610915	CRTAP	10491	HP:0003100	Slender long bone
OMIM:610915	CRTAP	10491	HP:0000520	Proptosis
OMIM:610915	COL1A1	1277	HP:0010049	Short metacarpal
OMIM:610915	COL1A1	1277	HP:0000311	Round face
OMIM:610915	COL1A1	1277	HP:0002982	Tibial bowing
OMIM:610915	COL1A1	1277	HP:0001263	Global developmental delay
OMIM:610915	COL1A1	1277	HP:0000023	Inguinal hernia
OMIM:610915	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:610915	COL1A1	1277	HP:0001552	Barrel-shaped chest
OMIM:610915	COL1A1	1277	HP:0002808	Kyphosis
OMIM:610915	COL1A1	1277	HP:0000270	Delayed cranial suture closure
OMIM:610915	COL1A1	1277	HP:0000926	Platyspondyly
OMIM:610915	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:610915	COL1A1	1277	HP:0004331	Decreased skull ossification
OMIM:610915	COL1A1	1277	HP:0000938	Osteopenia
OMIM:610915	COL1A1	1277	HP:0001388	Joint laxity
OMIM:610915	COL1A1	1277	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	COL1A1	1277	HP:0002650	Scoliosis
OMIM:610915	COL1A1	1277	HP:0002980	Femoral bowing
OMIM:610915	COL1A1	1277	HP:0002986	Radial bowing
OMIM:610915	COL1A1	1277	HP:0002645	Wormian bones
OMIM:610915	COL1A1	1277	HP:0003100	Slender long bone
OMIM:610915	COL1A1	1277	HP:0000520	Proptosis
OMIM:610915	COL1A2	1278	HP:0010049	Short metacarpal
OMIM:610915	COL1A2	1278	HP:0000311	Round face
OMIM:610915	COL1A2	1278	HP:0002982	Tibial bowing
OMIM:610915	COL1A2	1278	HP:0001263	Global developmental delay
OMIM:610915	COL1A2	1278	HP:0000023	Inguinal hernia
OMIM:610915	COL1A2	1278	HP:0002757	Recurrent fractures
OMIM:610915	COL1A2	1278	HP:0001552	Barrel-shaped chest
OMIM:610915	COL1A2	1278	HP:0002808	Kyphosis
OMIM:610915	COL1A2	1278	HP:0000270	Delayed cranial suture closure
OMIM:610915	COL1A2	1278	HP:0000926	Platyspondyly
OMIM:610915	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:610915	COL1A2	1278	HP:0004331	Decreased skull ossification
OMIM:610915	COL1A2	1278	HP:0000938	Osteopenia
OMIM:610915	COL1A2	1278	HP:0001388	Joint laxity
OMIM:610915	COL1A2	1278	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	COL1A2	1278	HP:0002650	Scoliosis
OMIM:610915	COL1A2	1278	HP:0002980	Femoral bowing
OMIM:610915	COL1A2	1278	HP:0002986	Radial bowing
OMIM:610915	COL1A2	1278	HP:0002645	Wormian bones
OMIM:610915	COL1A2	1278	HP:0003100	Slender long bone
OMIM:610915	COL1A2	1278	HP:0000520	Proptosis
OMIM:610915	P3H1	64175	HP:0010049	Short metacarpal
OMIM:610915	P3H1	64175	HP:0000311	Round face
OMIM:610915	P3H1	64175	HP:0002982	Tibial bowing
OMIM:610915	P3H1	64175	HP:0001263	Global developmental delay
OMIM:610915	P3H1	64175	HP:0000023	Inguinal hernia
OMIM:610915	P3H1	64175	HP:0002757	Recurrent fractures
OMIM:610915	P3H1	64175	HP:0001552	Barrel-shaped chest
OMIM:610915	P3H1	64175	HP:0002808	Kyphosis
OMIM:610915	P3H1	64175	HP:0000270	Delayed cranial suture closure
OMIM:610915	P3H1	64175	HP:0000926	Platyspondyly
OMIM:610915	P3H1	64175	HP:0000007	Autosomal recessive inheritance
OMIM:610915	P3H1	64175	HP:0004331	Decreased skull ossification
OMIM:610915	P3H1	64175	HP:0000938	Osteopenia
OMIM:610915	P3H1	64175	HP:0001388	Joint laxity
OMIM:610915	P3H1	64175	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	P3H1	64175	HP:0002650	Scoliosis
OMIM:610915	P3H1	64175	HP:0002980	Femoral bowing
OMIM:610915	P3H1	64175	HP:0002986	Radial bowing
OMIM:610915	P3H1	64175	HP:0002645	Wormian bones
OMIM:610915	P3H1	64175	HP:0003100	Slender long bone
OMIM:610915	P3H1	64175	HP:0000520	Proptosis
OMIM:610915	WNT1	7471	HP:0010049	Short metacarpal
OMIM:610915	WNT1	7471	HP:0000311	Round face
OMIM:610915	WNT1	7471	HP:0002982	Tibial bowing
OMIM:610915	WNT1	7471	HP:0001263	Global developmental delay
OMIM:610915	WNT1	7471	HP:0000023	Inguinal hernia
OMIM:610915	WNT1	7471	HP:0002757	Recurrent fractures
OMIM:610915	WNT1	7471	HP:0001552	Barrel-shaped chest
OMIM:610915	WNT1	7471	HP:0002808	Kyphosis
OMIM:610915	WNT1	7471	HP:0000270	Delayed cranial suture closure
OMIM:610915	WNT1	7471	HP:0000926	Platyspondyly
OMIM:610915	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:610915	WNT1	7471	HP:0004331	Decreased skull ossification
OMIM:610915	WNT1	7471	HP:0000938	Osteopenia
OMIM:610915	WNT1	7471	HP:0001388	Joint laxity
OMIM:610915	WNT1	7471	HP:0008873	Disproportionate short-limb short stature
OMIM:610915	WNT1	7471	HP:0002650	Scoliosis
OMIM:610915	WNT1	7471	HP:0002980	Femoral bowing
OMIM:610915	WNT1	7471	HP:0002986	Radial bowing
OMIM:610915	WNT1	7471	HP:0002645	Wormian bones
OMIM:610915	WNT1	7471	HP:0003100	Slender long bone
OMIM:610915	WNT1	7471	HP:0000520	Proptosis
OMIM:615715	ERCC6L2	375748	HP:0001882	Leukopenia
OMIM:615715	ERCC6L2	375748	HP:0000007	Autosomal recessive inheritance
OMIM:615715	ERCC6L2	375748	HP:0000252	Microcephaly
OMIM:615715	ERCC6L2	375748	HP:0001873	Thrombocytopenia
OMIM:615715	ERCC6L2	375748	HP:0001903	Anemia
OMIM:615715	ERCC6L2	375748	HP:0005528	Bone marrow hypocellularity
OMIM:615715	ERCC6L2	375748	HP:0001319	Neonatal hypotonia
OMIM:609039	HLA-DRB1	3123	HP:0000006	Autosomal dominant inheritance
OMIM:609039	HLA-DRB1	3123	HP:0002189	Excessive daytime sleepiness
OMIM:609039	HCRT	3060	HP:0000006	Autosomal dominant inheritance
OMIM:609039	HCRT	3060	HP:0002189	Excessive daytime sleepiness
OMIM:609039	MOG	4340	HP:0000006	Autosomal dominant inheritance
OMIM:609039	MOG	4340	HP:0002189	Excessive daytime sleepiness
OMIM:609039	CTSH	1512	HP:0000006	Autosomal dominant inheritance
OMIM:609039	CTSH	1512	HP:0002189	Excessive daytime sleepiness
OMIM:609039	P2RY11	5032	HP:0000006	Autosomal dominant inheritance
OMIM:609039	P2RY11	5032	HP:0002189	Excessive daytime sleepiness
OMIM:609039	ZNF365	22891	HP:0000006	Autosomal dominant inheritance
OMIM:609039	ZNF365	22891	HP:0002189	Excessive daytime sleepiness
OMIM:609039	TNFSF4	7292	HP:0000006	Autosomal dominant inheritance
OMIM:609039	TNFSF4	7292	HP:0002189	Excessive daytime sleepiness
OMIM:609039	HLA-DQB1	3119	HP:0000006	Autosomal dominant inheritance
OMIM:609039	HLA-DQB1	3119	HP:0002189	Excessive daytime sleepiness
OMIM:300455	RPGR	6103	HP:0000388	Otitis media
OMIM:300455	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:300455	RPGR	6103	HP:0011109	Chronic sinusitis
OMIM:300455	RPGR	6103	HP:0005376	Recurrent Haemophilus influenzae infections
OMIM:300455	RPGR	6103	HP:0002837	Recurrent bronchitis
OMIM:300455	RPGR	6103	HP:0100750	Atelectasis
OMIM:300455	RPGR	6103	HP:0005101	High-frequency hearing impairment
OMIM:300455	RPGR	6103	HP:0001419	X-linked recessive inheritance
OMIM:154020	HNF1B	6928	HP:0001250	Seizures
OMIM:154020	HNF1B	6928	HP:0000006	Autosomal dominant inheritance
OMIM:154020	HNF1B	6928	HP:0005567	Renal magnesium wasting
OMIM:154020	FXYD2	486	HP:0001250	Seizures
OMIM:154020	FXYD2	486	HP:0000006	Autosomal dominant inheritance
OMIM:154020	FXYD2	486	HP:0005567	Renal magnesium wasting
OMIM:276710	HPD	3242	HP:0001392	Abnormality of the liver
OMIM:276710	HPD	3242	HP:0003161	4-Hydroxyphenylpyruvic aciduria
OMIM:276710	HPD	3242	HP:0003607	4-Hydroxyphenylacetic aciduria
OMIM:276710	HPD	3242	HP:0001250	Seizures
OMIM:276710	HPD	3242	HP:0000007	Autosomal recessive inheritance
OMIM:276710	HPD	3242	HP:0003231	Hypertyrosinemia
OMIM:276710	HPD	3242	HP:0001256	Intellectual disability, mild
OMIM:231690	SUGCT	79783	HP:0000007	Autosomal recessive inheritance
OMIM:231690	SUGCT	79783	HP:0002013	Vomiting
OMIM:231690	SUGCT	79783	HP:0000822	Hypertension
OMIM:231690	SUGCT	79783	HP:0000836	Hyperthyroidism
OMIM:231690	SUGCT	79783	HP:0002014	Diarrhea
OMIM:231690	SUGCT	79783	HP:0001508	Failure to thrive
OMIM:231690	SUGCT	79783	HP:0000853	Goiter
OMIM:131300	TGFB1	7040	HP:0001063	Acrocyanosis
OMIM:131300	TGFB1	7040	HP:0002808	Kyphosis
OMIM:131300	TGFB1	7040	HP:0000006	Autosomal dominant inheritance
OMIM:131300	TGFB1	7040	HP:0002311	Incoordination
OMIM:131300	TGFB1	7040	HP:0002857	Genu valgum
OMIM:131300	TGFB1	7040	HP:0005528	Bone marrow hypocellularity
OMIM:131300	TGFB1	7040	HP:0000501	Glaucoma
OMIM:131300	TGFB1	7040	HP:0002650	Scoliosis
OMIM:131300	TGFB1	7040	HP:0002997	Abnormality of the ulna
OMIM:131300	TGFB1	7040	HP:0003621	Juvenile onset
OMIM:131300	TGFB1	7040	HP:0001903	Anemia
OMIM:131300	TGFB1	7040	HP:0002240	Hepatomegaly
OMIM:131300	TGFB1	7040	HP:0002652	Skeletal dysplasia
OMIM:131300	TGFB1	7040	HP:0008872	Feeding difficulties in infancy
OMIM:131300	TGFB1	7040	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:131300	TGFB1	7040	HP:0000670	Carious teeth
OMIM:131300	TGFB1	7040	HP:0000079	Abnormality of the urinary system
OMIM:131300	TGFB1	7040	HP:0002315	Headache
OMIM:131300	TGFB1	7040	HP:0001639	Hypertrophic cardiomyopathy
OMIM:131300	TGFB1	7040	HP:0002823	Abnormality of the femur
OMIM:131300	TGFB1	7040	HP:0000365	Hearing impairment
OMIM:131300	TGFB1	7040	HP:0001999	Abnormal facial shape
OMIM:131300	TGFB1	7040	HP:0100774	Hyperostosis
OMIM:131300	TGFB1	7040	HP:0003272	Abnormality of the hip bone
OMIM:131300	TGFB1	7040	HP:0002039	Anorexia
OMIM:131300	TGFB1	7040	HP:0003063	Abnormality of the humerus
OMIM:131300	TGFB1	7040	HP:0000648	Optic atrophy
OMIM:131300	TGFB1	7040	HP:0000684	Delayed eruption of teeth
OMIM:131300	TGFB1	7040	HP:0000303	Mandibular prognathia
OMIM:131300	TGFB1	7040	HP:0003202	Skeletal muscle atrophy
OMIM:131300	TGFB1	7040	HP:0000944	Abnormality of the metaphyses
OMIM:131300	TGFB1	7040	HP:0003307	Hyperlordosis
OMIM:131300	TGFB1	7040	HP:0002515	Waddling gait
OMIM:131300	TGFB1	7040	HP:0000520	Proptosis
OMIM:131300	TGFB1	7040	HP:0001882	Leukopenia
OMIM:131300	TGFB1	7040	HP:0010628	Facial palsy
OMIM:131300	TGFB1	7040	HP:0000078	Abnormality of the genital system
OMIM:131300	TGFB1	7040	HP:0001744	Splenomegaly
OMIM:131300	TGFB1	7040	HP:0002167	Neurological speech impairment
OMIM:131300	TGFB1	7040	HP:0001763	Pes planus
OMIM:131300	TGFB1	7040	HP:0001376	Limitation of joint mobility
OMIM:131300	TGFB1	7040	HP:0002653	Bone pain
OMIM:131300	TGFB1	7040	HP:0001002	Decreased subcutaneous fat
OMIM:131300	TGFB1	7040	HP:0002007	Frontal bossing
OMIM:604348	PER2	8864	HP:0000006	Autosomal dominant inheritance
OMIM:604348	CSNK1D	1453	HP:0000006	Autosomal dominant inheritance
OMIM:300854	ASPSCR1	79058	HP:0001428	Somatic mutation
OMIM:300854	SFPQ	6421	HP:0001428	Somatic mutation
OMIM:300854	TFE3	7030	HP:0001428	Somatic mutation
OMIM:300854	TFEB	7942	HP:0001428	Somatic mutation
OMIM:300854	NONO	4841	HP:0001428	Somatic mutation
OMIM:300854	PRCC	5546	HP:0001428	Somatic mutation
OMIM:300854	CLTC	1213	HP:0001428	Somatic mutation
OMIM:267430	REN	5972	HP:0001561	Polyhydramnios
OMIM:267430	REN	5972	HP:0000007	Autosomal recessive inheritance
OMIM:267430	REN	5972	HP:0004492	Widely patent fontanelles and sutures
OMIM:267430	REN	5972	HP:0001382	Joint hypermobility
OMIM:267430	REN	5972	HP:0001562	Oligohydramnios
OMIM:267430	REN	5972	HP:0100519	Anuria
OMIM:267430	REN	5972	HP:0001622	Premature birth
OMIM:267430	REN	5972	HP:0002009	Potter facies
OMIM:267430	REN	5972	HP:0000091	Abnormality of the renal tubule
OMIM:267430	REN	5972	HP:0000316	Hypertelorism
OMIM:267430	REN	5972	HP:0000954	Single transverse palmar crease
OMIM:267430	REN	5972	HP:0000113	Polycystic kidney dysplasia
OMIM:267430	REN	5972	HP:0000252	Microcephaly
OMIM:267430	REN	5972	HP:0000112	Nephropathy
OMIM:267430	REN	5972	HP:0001636	Tetralogy of Fallot
OMIM:267430	REN	5972	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:267430	REN	5972	HP:0002093	Respiratory insufficiency
OMIM:267430	REN	5972	HP:0002089	Pulmonary hypoplasia
OMIM:267430	ACE	1636	HP:0001561	Polyhydramnios
OMIM:267430	ACE	1636	HP:0000007	Autosomal recessive inheritance
OMIM:267430	ACE	1636	HP:0004492	Widely patent fontanelles and sutures
OMIM:267430	ACE	1636	HP:0001382	Joint hypermobility
OMIM:267430	ACE	1636	HP:0001562	Oligohydramnios
OMIM:267430	ACE	1636	HP:0100519	Anuria
OMIM:267430	ACE	1636	HP:0001622	Premature birth
OMIM:267430	ACE	1636	HP:0002009	Potter facies
OMIM:267430	ACE	1636	HP:0000091	Abnormality of the renal tubule
OMIM:267430	ACE	1636	HP:0000316	Hypertelorism
OMIM:267430	ACE	1636	HP:0000954	Single transverse palmar crease
OMIM:267430	ACE	1636	HP:0000113	Polycystic kidney dysplasia
OMIM:267430	ACE	1636	HP:0000252	Microcephaly
OMIM:267430	ACE	1636	HP:0000112	Nephropathy
OMIM:267430	ACE	1636	HP:0001636	Tetralogy of Fallot
OMIM:267430	ACE	1636	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:267430	ACE	1636	HP:0002093	Respiratory insufficiency
OMIM:267430	ACE	1636	HP:0002089	Pulmonary hypoplasia
OMIM:267430	AGT	183	HP:0001561	Polyhydramnios
OMIM:267430	AGT	183	HP:0000007	Autosomal recessive inheritance
OMIM:267430	AGT	183	HP:0004492	Widely patent fontanelles and sutures
OMIM:267430	AGT	183	HP:0001382	Joint hypermobility
OMIM:267430	AGT	183	HP:0001562	Oligohydramnios
OMIM:267430	AGT	183	HP:0100519	Anuria
OMIM:267430	AGT	183	HP:0001622	Premature birth
OMIM:267430	AGT	183	HP:0002009	Potter facies
OMIM:267430	AGT	183	HP:0000091	Abnormality of the renal tubule
OMIM:267430	AGT	183	HP:0000316	Hypertelorism
OMIM:267430	AGT	183	HP:0000954	Single transverse palmar crease
OMIM:267430	AGT	183	HP:0000113	Polycystic kidney dysplasia
OMIM:267430	AGT	183	HP:0000252	Microcephaly
OMIM:267430	AGT	183	HP:0000112	Nephropathy
OMIM:267430	AGT	183	HP:0001636	Tetralogy of Fallot
OMIM:267430	AGT	183	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:267430	AGT	183	HP:0002093	Respiratory insufficiency
OMIM:267430	AGT	183	HP:0002089	Pulmonary hypoplasia
OMIM:267430	AGTR1	185	HP:0001561	Polyhydramnios
OMIM:267430	AGTR1	185	HP:0000007	Autosomal recessive inheritance
OMIM:267430	AGTR1	185	HP:0004492	Widely patent fontanelles and sutures
OMIM:267430	AGTR1	185	HP:0001382	Joint hypermobility
OMIM:267430	AGTR1	185	HP:0001562	Oligohydramnios
OMIM:267430	AGTR1	185	HP:0100519	Anuria
OMIM:267430	AGTR1	185	HP:0001622	Premature birth
OMIM:267430	AGTR1	185	HP:0002009	Potter facies
OMIM:267430	AGTR1	185	HP:0000091	Abnormality of the renal tubule
OMIM:267430	AGTR1	185	HP:0000316	Hypertelorism
OMIM:267430	AGTR1	185	HP:0000954	Single transverse palmar crease
OMIM:267430	AGTR1	185	HP:0000113	Polycystic kidney dysplasia
OMIM:267430	AGTR1	185	HP:0000252	Microcephaly
OMIM:267430	AGTR1	185	HP:0000112	Nephropathy
OMIM:267430	AGTR1	185	HP:0001636	Tetralogy of Fallot
OMIM:267430	AGTR1	185	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:267430	AGTR1	185	HP:0002093	Respiratory insufficiency
OMIM:267430	AGTR1	185	HP:0002089	Pulmonary hypoplasia
OMIM:182280	RB1	5925	HP:0000006	Autosomal dominant inheritance
OMIM:182280	RB1	5925	HP:0100526	Neoplasm of the lung
OMIM:182280	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:182280	TP53	7157	HP:0100526	Neoplasm of the lung
OMIM:182280	TP73	7161	HP:0000006	Autosomal dominant inheritance
OMIM:182280	TP73	7161	HP:0100526	Neoplasm of the lung
OMIM:614022	GATA4	2626	HP:0005180	Tricuspid regurgitation
OMIM:614022	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:614022	GATA4	2626	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	GATA4	2626	HP:0004749	Atrial flutter
OMIM:614022	GATA4	2626	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	GATA4	2626	HP:0001712	Left ventricular hypertrophy
OMIM:614022	GATA6	2627	HP:0005180	Tricuspid regurgitation
OMIM:614022	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:614022	GATA6	2627	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	GATA6	2627	HP:0004749	Atrial flutter
OMIM:614022	GATA6	2627	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	GATA6	2627	HP:0001712	Left ventricular hypertrophy
OMIM:614022	KCNE2	9992	HP:0005180	Tricuspid regurgitation
OMIM:614022	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:614022	KCNE2	9992	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	KCNE2	9992	HP:0004749	Atrial flutter
OMIM:614022	KCNE2	9992	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	KCNE2	9992	HP:0001712	Left ventricular hypertrophy
OMIM:614022	KCNQ1	3784	HP:0005180	Tricuspid regurgitation
OMIM:614022	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:614022	KCNQ1	3784	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	KCNQ1	3784	HP:0004749	Atrial flutter
OMIM:614022	KCNQ1	3784	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	KCNQ1	3784	HP:0001712	Left ventricular hypertrophy
OMIM:614022	KCNE1	3753	HP:0005180	Tricuspid regurgitation
OMIM:614022	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:614022	KCNE1	3753	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	KCNE1	3753	HP:0004749	Atrial flutter
OMIM:614022	KCNE1	3753	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	KCNE1	3753	HP:0001712	Left ventricular hypertrophy
OMIM:614022	NKX2-5	1482	HP:0005180	Tricuspid regurgitation
OMIM:614022	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:614022	NKX2-5	1482	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	NKX2-5	1482	HP:0004749	Atrial flutter
OMIM:614022	NKX2-5	1482	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	NKX2-5	1482	HP:0001712	Left ventricular hypertrophy
OMIM:614022	ABCC9	10060	HP:0005180	Tricuspid regurgitation
OMIM:614022	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:614022	ABCC9	10060	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	ABCC9	10060	HP:0004749	Atrial flutter
OMIM:614022	ABCC9	10060	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	ABCC9	10060	HP:0001712	Left ventricular hypertrophy
OMIM:614022	GJA5	2702	HP:0005180	Tricuspid regurgitation
OMIM:614022	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:614022	GJA5	2702	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	GJA5	2702	HP:0004749	Atrial flutter
OMIM:614022	GJA5	2702	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	GJA5	2702	HP:0001712	Left ventricular hypertrophy
OMIM:614022	NPPA	4878	HP:0005180	Tricuspid regurgitation
OMIM:614022	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:614022	NPPA	4878	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	NPPA	4878	HP:0004749	Atrial flutter
OMIM:614022	NPPA	4878	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	NPPA	4878	HP:0001712	Left ventricular hypertrophy
OMIM:614022	KCNJ2	3759	HP:0005180	Tricuspid regurgitation
OMIM:614022	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:614022	KCNJ2	3759	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	KCNJ2	3759	HP:0004749	Atrial flutter
OMIM:614022	KCNJ2	3759	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	KCNJ2	3759	HP:0001712	Left ventricular hypertrophy
OMIM:614022	NKX2-6	137814	HP:0005180	Tricuspid regurgitation
OMIM:614022	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:614022	NKX2-6	137814	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	NKX2-6	137814	HP:0004749	Atrial flutter
OMIM:614022	NKX2-6	137814	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	NKX2-6	137814	HP:0001712	Left ventricular hypertrophy
OMIM:614022	GATA5	140628	HP:0005180	Tricuspid regurgitation
OMIM:614022	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:614022	GATA5	140628	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	GATA5	140628	HP:0004749	Atrial flutter
OMIM:614022	GATA5	140628	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	GATA5	140628	HP:0001712	Left ventricular hypertrophy
OMIM:614022	SCN2B	6327	HP:0005180	Tricuspid regurgitation
OMIM:614022	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:614022	SCN2B	6327	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	SCN2B	6327	HP:0004749	Atrial flutter
OMIM:614022	SCN2B	6327	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	SCN2B	6327	HP:0001712	Left ventricular hypertrophy
OMIM:614022	SCN3B	55800	HP:0005180	Tricuspid regurgitation
OMIM:614022	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:614022	SCN3B	55800	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	SCN3B	55800	HP:0004749	Atrial flutter
OMIM:614022	SCN3B	55800	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	SCN3B	55800	HP:0001712	Left ventricular hypertrophy
OMIM:614022	SCN4B	6330	HP:0005180	Tricuspid regurgitation
OMIM:614022	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:614022	SCN4B	6330	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	SCN4B	6330	HP:0004749	Atrial flutter
OMIM:614022	SCN4B	6330	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	SCN4B	6330	HP:0001712	Left ventricular hypertrophy
OMIM:614022	SCN5A	6331	HP:0005180	Tricuspid regurgitation
OMIM:614022	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:614022	SCN5A	6331	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	SCN5A	6331	HP:0004749	Atrial flutter
OMIM:614022	SCN5A	6331	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	SCN5A	6331	HP:0001712	Left ventricular hypertrophy
OMIM:614022	PITX2	5308	HP:0005180	Tricuspid regurgitation
OMIM:614022	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:614022	PITX2	5308	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	PITX2	5308	HP:0004749	Atrial flutter
OMIM:614022	PITX2	5308	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	PITX2	5308	HP:0001712	Left ventricular hypertrophy
OMIM:614022	KCNA5	3741	HP:0005180	Tricuspid regurgitation
OMIM:614022	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
OMIM:614022	KCNA5	3741	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	KCNA5	3741	HP:0004749	Atrial flutter
OMIM:614022	KCNA5	3741	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	KCNA5	3741	HP:0001712	Left ventricular hypertrophy
OMIM:614022	NUP155	9631	HP:0005180	Tricuspid regurgitation
OMIM:614022	NUP155	9631	HP:0000006	Autosomal dominant inheritance
OMIM:614022	NUP155	9631	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614022	NUP155	9631	HP:0004749	Atrial flutter
OMIM:614022	NUP155	9631	HP:0006671	Paroxysmal atrial tachycardia
OMIM:614022	NUP155	9631	HP:0001712	Left ventricular hypertrophy
ORPHANET:312	KRT10	3858	HP:0000995	Melanocytic nevus
ORPHANET:312	KRT10	3858	HP:0200042	Skin ulcer
ORPHANET:312	KRT10	3858	HP:0008064	Ichthyosis
ORPHANET:312	KRT10	3858	HP:0000982	Palmoplantar keratoderma
ORPHANET:312	KRT10	3858	HP:0001824	Weight loss
ORPHANET:312	KRT1	3848	HP:0000995	Melanocytic nevus
ORPHANET:312	KRT1	3848	HP:0200042	Skin ulcer
ORPHANET:312	KRT1	3848	HP:0008064	Ichthyosis
ORPHANET:312	KRT1	3848	HP:0000982	Palmoplantar keratoderma
ORPHANET:312	KRT1	3848	HP:0001824	Weight loss
OMIM:254210	SLC25A1	6576	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254210	SLC25A1	6576	HP:0002804	Arthrogryposis multiplex congenita
OMIM:254210	SLC25A1	6576	HP:0003577	Congenital onset
OMIM:254210	SLC25A1	6576	HP:0002033	Poor suck
OMIM:254210	SLC25A1	6576	HP:0000007	Autosomal recessive inheritance
OMIM:254210	SLC25A1	6576	HP:0002015	Dysphagia
OMIM:254210	SLC25A1	6576	HP:0000597	Ophthalmoparesis
OMIM:254210	SLC25A1	6576	HP:0002098	Respiratory distress
OMIM:254210	SLC25A1	6576	HP:0000508	Ptosis
OMIM:254210	SLC25A1	6576	HP:0000486	Strabismus
OMIM:254210	SLC25A1	6576	HP:0001283	Bulbar palsy
OMIM:254210	SLC25A1	6576	HP:0002715	Abnormality of the immune system
OMIM:254210	SNAP25	6616	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254210	SNAP25	6616	HP:0002804	Arthrogryposis multiplex congenita
OMIM:254210	SNAP25	6616	HP:0003577	Congenital onset
OMIM:254210	SNAP25	6616	HP:0002033	Poor suck
OMIM:254210	SNAP25	6616	HP:0000007	Autosomal recessive inheritance
OMIM:254210	SNAP25	6616	HP:0002015	Dysphagia
OMIM:254210	SNAP25	6616	HP:0000597	Ophthalmoparesis
OMIM:254210	SNAP25	6616	HP:0002098	Respiratory distress
OMIM:254210	SNAP25	6616	HP:0000508	Ptosis
OMIM:254210	SNAP25	6616	HP:0000486	Strabismus
OMIM:254210	SNAP25	6616	HP:0001283	Bulbar palsy
OMIM:254210	SNAP25	6616	HP:0002715	Abnormality of the immune system
OMIM:254210	SYT2	127833	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254210	SYT2	127833	HP:0002804	Arthrogryposis multiplex congenita
OMIM:254210	SYT2	127833	HP:0003577	Congenital onset
OMIM:254210	SYT2	127833	HP:0002033	Poor suck
OMIM:254210	SYT2	127833	HP:0000007	Autosomal recessive inheritance
OMIM:254210	SYT2	127833	HP:0002015	Dysphagia
OMIM:254210	SYT2	127833	HP:0000597	Ophthalmoparesis
OMIM:254210	SYT2	127833	HP:0002098	Respiratory distress
OMIM:254210	SYT2	127833	HP:0000508	Ptosis
OMIM:254210	SYT2	127833	HP:0000486	Strabismus
OMIM:254210	SYT2	127833	HP:0001283	Bulbar palsy
OMIM:254210	SYT2	127833	HP:0002715	Abnormality of the immune system
OMIM:254210	AGRN	375790	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254210	AGRN	375790	HP:0002804	Arthrogryposis multiplex congenita
OMIM:254210	AGRN	375790	HP:0003577	Congenital onset
OMIM:254210	AGRN	375790	HP:0002033	Poor suck
OMIM:254210	AGRN	375790	HP:0000007	Autosomal recessive inheritance
OMIM:254210	AGRN	375790	HP:0002015	Dysphagia
OMIM:254210	AGRN	375790	HP:0000597	Ophthalmoparesis
OMIM:254210	AGRN	375790	HP:0002098	Respiratory distress
OMIM:254210	AGRN	375790	HP:0000508	Ptosis
OMIM:254210	AGRN	375790	HP:0000486	Strabismus
OMIM:254210	AGRN	375790	HP:0001283	Bulbar palsy
OMIM:254210	AGRN	375790	HP:0002715	Abnormality of the immune system
OMIM:254210	CHAT	1103	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254210	CHAT	1103	HP:0002804	Arthrogryposis multiplex congenita
OMIM:254210	CHAT	1103	HP:0003577	Congenital onset
OMIM:254210	CHAT	1103	HP:0002033	Poor suck
OMIM:254210	CHAT	1103	HP:0000007	Autosomal recessive inheritance
OMIM:254210	CHAT	1103	HP:0002015	Dysphagia
OMIM:254210	CHAT	1103	HP:0000597	Ophthalmoparesis
OMIM:254210	CHAT	1103	HP:0002098	Respiratory distress
OMIM:254210	CHAT	1103	HP:0000508	Ptosis
OMIM:254210	CHAT	1103	HP:0000486	Strabismus
OMIM:254210	CHAT	1103	HP:0001283	Bulbar palsy
OMIM:254210	CHAT	1103	HP:0002715	Abnormality of the immune system
OMIM:600348	PAFAH1B1	5048	HP:0000924	Abnormality of the skeletal system
OMIM:600348	PAFAH1B1	5048	HP:0001250	Seizures
OMIM:600348	PAFAH1B1	5048	HP:0002282	Heterotopia
OMIM:600348	DCX	1641	HP:0000924	Abnormality of the skeletal system
OMIM:600348	DCX	1641	HP:0001250	Seizures
OMIM:600348	DCX	1641	HP:0002282	Heterotopia
OMIM:600348	EML1	2009	HP:0000924	Abnormality of the skeletal system
OMIM:600348	EML1	2009	HP:0001250	Seizures
OMIM:600348	EML1	2009	HP:0002282	Heterotopia
OMIM:606159	FTL	2512	HP:0001300	Parkinsonism
OMIM:606159	FTL	2512	HP:0002167	Neurological speech impairment
OMIM:606159	FTL	2512	HP:0002311	Incoordination
OMIM:606159	FTL	2512	HP:0000496	Abnormality of eye movement
OMIM:606159	FTL	2512	HP:0000726	Dementia
OMIM:606159	FTL	2512	HP:0001288	Gait disturbance
OMIM:606159	FTL	2512	HP:0003676	Progressive
OMIM:606159	FTL	2512	HP:0003812	Phenotypic variability
OMIM:606159	FTL	2512	HP:0001251	Ataxia
OMIM:606159	FTL	2512	HP:0002015	Dysphagia
OMIM:606159	FTL	2512	HP:0008872	Feeding difficulties in infancy
OMIM:606159	FTL	2512	HP:0001337	Tremor
OMIM:606159	FTL	2512	HP:0001266	Choreoathetosis
OMIM:606159	FTL	2512	HP:0002067	Bradykinesia
OMIM:606159	FTL	2512	HP:0002376	Developmental regression
OMIM:606159	FTL	2512	HP:0002356	Writer's cramp
OMIM:606159	FTL	2512	HP:0002063	Rigidity
OMIM:606159	FTL	2512	HP:0001257	Spasticity
OMIM:606159	FTL	2512	HP:0001260	Dysarthria
OMIM:606159	FTL	2512	HP:0000006	Autosomal dominant inheritance
OMIM:606159	FTL	2512	HP:0002180	Neurodegeneration
OMIM:606159	FTL	2512	HP:0003487	Babinski sign
OMIM:606159	FTL	2512	HP:0001276	Hypertonia
OMIM:606159	FTL	2512	HP:0000643	Blepharospasm
OMIM:606159	FTL	2512	HP:0002425	Anarthria
OMIM:606159	FTL	2512	HP:0000712	Emotional lability
OMIM:606159	FTL	2512	HP:0004372	Reduced consciousness/confusion
OMIM:606159	FTL	2512	HP:0001347	Hyperreflexia
OMIM:606159	FTL	2512	HP:0002019	Constipation
OMIM:606159	FTL	2512	HP:0002072	Chorea
OMIM:168100	FBXO7	25793	HP:0001260	Dysarthria
OMIM:168100	FBXO7	25793	HP:0001300	Parkinsonism
OMIM:168100	FBXO7	25793	HP:0000298	Mask-like facies
OMIM:168100	FBXO7	25793	HP:0002063	Rigidity
OMIM:168100	FBXO7	25793	HP:0001288	Gait disturbance
OMIM:168100	FBXO7	25793	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:168100	FBXO7	25793	HP:0002067	Bradykinesia
OMIM:168100	FBXO7	25793	HP:0003677	Slow progression
OMIM:168100	FBXO7	25793	HP:0001337	Tremor
OMIM:168100	FBXO7	25793	HP:0000006	Autosomal dominant inheritance
OMIM:168100	SNCA	6622	HP:0001260	Dysarthria
OMIM:168100	SNCA	6622	HP:0001300	Parkinsonism
OMIM:168100	SNCA	6622	HP:0000298	Mask-like facies
OMIM:168100	SNCA	6622	HP:0002063	Rigidity
OMIM:168100	SNCA	6622	HP:0001288	Gait disturbance
OMIM:168100	SNCA	6622	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:168100	SNCA	6622	HP:0002067	Bradykinesia
OMIM:168100	SNCA	6622	HP:0003677	Slow progression
OMIM:168100	SNCA	6622	HP:0001337	Tremor
OMIM:168100	SNCA	6622	HP:0000006	Autosomal dominant inheritance
OMIM:603736	KAT6B	23522	HP:0000383	Abnormality of periauricular region
OMIM:603736	KAT6B	23522	HP:0000954	Single transverse palmar crease
OMIM:603736	KAT6B	23522	HP:0000340	Sloping forehead
OMIM:603736	KAT6B	23522	HP:0100490	Camptodactyly of finger
OMIM:603736	KAT6B	23522	HP:0000269	Prominent occiput
OMIM:603736	KAT6B	23522	HP:0001250	Seizures
OMIM:603736	KAT6B	23522	HP:0000821	Hypothyroidism
OMIM:603736	KAT6B	23522	HP:0004209	Clinodactyly of the 5th finger
OMIM:603736	KAT6B	23522	HP:0001674	Complete atrioventricular canal defect
OMIM:603736	KAT6B	23522	HP:0002205	Recurrent respiratory infections
OMIM:603736	KAT6B	23522	HP:0000175	Cleft palate
OMIM:603736	KAT6B	23522	HP:0001643	Patent ductus arteriosus
OMIM:603736	KAT6B	23522	HP:0005105	Abnormal nasal morphology
OMIM:603736	KAT6B	23522	HP:0000028	Cryptorchidism
OMIM:603736	KAT6B	23522	HP:0001249	Intellectual disability
OMIM:603736	KAT6B	23522	HP:0000581	Blepharophimosis
OMIM:603736	KAT6B	23522	HP:0100543	Cognitive impairment
OMIM:603736	KAT6B	23522	HP:0001629	Ventricular septal defect
OMIM:603736	KAT6B	23522	HP:0001631	Atria septal defect
OMIM:603736	KAT6B	23522	HP:0009738	Abnormality of the antihelix
OMIM:603736	KAT6B	23522	HP:0004322	Short stature
OMIM:603736	KAT6B	23522	HP:0001252	Muscular hypotonia
OMIM:603736	KAT6B	23522	HP:0000347	Micrognathia
OMIM:603736	KAT6B	23522	HP:0000368	Low-set, posteriorly rotated ears
OMIM:603736	KAT6B	23522	HP:0000632	Lacrimation abnormality
OMIM:603736	KAT6B	23522	HP:0000252	Microcephaly
OMIM:603736	KAT6B	23522	HP:0001382	Joint hypermobility
OMIM:603736	KAT6B	23522	HP:0001561	Polyhydramnios
OMIM:603736	KAT6B	23522	HP:0100649	Neoplasm of the oral cavity
OMIM:613120	SCN10A	6336	HP:0004749	Atrial flutter
OMIM:613120	SCN10A	6336	HP:0012251	ST segment elevation
OMIM:613120	GATA4	2626	HP:0004749	Atrial flutter
OMIM:613120	GATA4	2626	HP:0012251	ST segment elevation
OMIM:613120	GATA6	2627	HP:0004749	Atrial flutter
OMIM:613120	GATA6	2627	HP:0012251	ST segment elevation
OMIM:613120	GPD1L	23171	HP:0004749	Atrial flutter
OMIM:613120	GPD1L	23171	HP:0012251	ST segment elevation
OMIM:613120	CACNA1C	775	HP:0004749	Atrial flutter
OMIM:613120	CACNA1C	775	HP:0012251	ST segment elevation
OMIM:613120	KCNE2	9992	HP:0004749	Atrial flutter
OMIM:613120	KCNE2	9992	HP:0012251	ST segment elevation
OMIM:613120	KCNQ1	3784	HP:0004749	Atrial flutter
OMIM:613120	KCNQ1	3784	HP:0012251	ST segment elevation
OMIM:613120	NKX2-5	1482	HP:0004749	Atrial flutter
OMIM:613120	NKX2-5	1482	HP:0012251	ST segment elevation
OMIM:613120	TRPM4	54795	HP:0004749	Atrial flutter
OMIM:613120	TRPM4	54795	HP:0012251	ST segment elevation
OMIM:613120	ABCC9	10060	HP:0004749	Atrial flutter
OMIM:613120	ABCC9	10060	HP:0012251	ST segment elevation
OMIM:613120	CACNA2D1	781	HP:0004749	Atrial flutter
OMIM:613120	CACNA2D1	781	HP:0012251	ST segment elevation
OMIM:613120	GJA5	2702	HP:0004749	Atrial flutter
OMIM:613120	GJA5	2702	HP:0012251	ST segment elevation
OMIM:613120	NPPA	4878	HP:0004749	Atrial flutter
OMIM:613120	NPPA	4878	HP:0012251	ST segment elevation
OMIM:613120	CACNB2	783	HP:0004749	Atrial flutter
OMIM:613120	CACNB2	783	HP:0012251	ST segment elevation
OMIM:613120	NKX2-6	137814	HP:0004749	Atrial flutter
OMIM:613120	NKX2-6	137814	HP:0012251	ST segment elevation
OMIM:613120	GATA5	140628	HP:0004749	Atrial flutter
OMIM:613120	GATA5	140628	HP:0012251	ST segment elevation
OMIM:613120	KCNE3	10008	HP:0004749	Atrial flutter
OMIM:613120	KCNE3	10008	HP:0012251	ST segment elevation
OMIM:613120	KCNA5	3741	HP:0004749	Atrial flutter
OMIM:613120	KCNA5	3741	HP:0012251	ST segment elevation
OMIM:613120	NUP155	9631	HP:0004749	Atrial flutter
OMIM:613120	NUP155	9631	HP:0012251	ST segment elevation
OMIM:613120	HCN4	10021	HP:0004749	Atrial flutter
OMIM:613120	HCN4	10021	HP:0012251	ST segment elevation
OMIM:613120	KCND3	3752	HP:0004749	Atrial flutter
OMIM:613120	KCND3	3752	HP:0012251	ST segment elevation
OMIM:613120	KCNE1	3753	HP:0004749	Atrial flutter
OMIM:613120	KCNE1	3753	HP:0012251	ST segment elevation
OMIM:613120	KCNJ2	3759	HP:0004749	Atrial flutter
OMIM:613120	KCNJ2	3759	HP:0012251	ST segment elevation
OMIM:613120	SCN1B	6324	HP:0004749	Atrial flutter
OMIM:613120	SCN1B	6324	HP:0012251	ST segment elevation
OMIM:613120	KCNJ8	3764	HP:0004749	Atrial flutter
OMIM:613120	KCNJ8	3764	HP:0012251	ST segment elevation
OMIM:613120	SCN2B	6327	HP:0004749	Atrial flutter
OMIM:613120	SCN2B	6327	HP:0012251	ST segment elevation
OMIM:613120	SCN3B	55800	HP:0004749	Atrial flutter
OMIM:613120	SCN3B	55800	HP:0012251	ST segment elevation
OMIM:613120	SCN4B	6330	HP:0004749	Atrial flutter
OMIM:613120	SCN4B	6330	HP:0012251	ST segment elevation
OMIM:613120	SCN5A	6331	HP:0004749	Atrial flutter
OMIM:613120	SCN5A	6331	HP:0012251	ST segment elevation
OMIM:613120	PITX2	5308	HP:0004749	Atrial flutter
OMIM:613120	PITX2	5308	HP:0012251	ST segment elevation
OMIM:613120	SLMAP	7871	HP:0004749	Atrial flutter
OMIM:613120	SLMAP	7871	HP:0012251	ST segment elevation
OMIM:607634	LRP5	4041	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:607634	LRP5	4041	HP:0000925	Abnormality of the vertebral column
OMIM:607634	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:607634	LRP5	4041	HP:0002684	Thickened calvaria
OMIM:607634	LRP5	4041	HP:0002315	Headache
OMIM:607634	LRP5	4041	HP:0000405	Conductive hearing impairment
OMIM:609909	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:609909	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:609909	TPM1	7168	HP:0004308	Ventricular arrhythmia
OMIM:609909	TPM1	7168	HP:0006673	Reduced systolic function
OMIM:609909	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:609909	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:609909	CRYAB	1410	HP:0004308	Ventricular arrhythmia
OMIM:609909	CRYAB	1410	HP:0006673	Reduced systolic function
OMIM:609909	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:609909	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:609909	ACTC1	70	HP:0004308	Ventricular arrhythmia
OMIM:609909	ACTC1	70	HP:0006673	Reduced systolic function
OMIM:609909	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:609909	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:609909	RAF1	5894	HP:0004308	Ventricular arrhythmia
OMIM:609909	RAF1	5894	HP:0006673	Reduced systolic function
OMIM:609909	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:609909	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:609909	GATAD1	57798	HP:0004308	Ventricular arrhythmia
OMIM:609909	GATAD1	57798	HP:0006673	Reduced systolic function
OMIM:609909	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:609909	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:609909	LAMA4	3910	HP:0004308	Ventricular arrhythmia
OMIM:609909	LAMA4	3910	HP:0006673	Reduced systolic function
OMIM:609909	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:609909	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:609909	TMPO	7112	HP:0004308	Ventricular arrhythmia
OMIM:609909	TMPO	7112	HP:0006673	Reduced systolic function
OMIM:609909	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:609909	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:609909	DES	1674	HP:0004308	Ventricular arrhythmia
OMIM:609909	DES	1674	HP:0006673	Reduced systolic function
OMIM:609909	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:609909	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:609909	ABCC9	10060	HP:0004308	Ventricular arrhythmia
OMIM:609909	ABCC9	10060	HP:0006673	Reduced systolic function
OMIM:609909	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:609909	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:609909	MYH6	4624	HP:0004308	Ventricular arrhythmia
OMIM:609909	MYH6	4624	HP:0006673	Reduced systolic function
OMIM:609909	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:609909	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:609909	MYH7	4625	HP:0004308	Ventricular arrhythmia
OMIM:609909	MYH7	4625	HP:0006673	Reduced systolic function
OMIM:609909	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:609909	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:609909	LDB3	11155	HP:0004308	Ventricular arrhythmia
OMIM:609909	LDB3	11155	HP:0006673	Reduced systolic function
OMIM:609909	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:609909	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:609909	ACTN2	88	HP:0004308	Ventricular arrhythmia
OMIM:609909	ACTN2	88	HP:0006673	Reduced systolic function
OMIM:609909	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:609909	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:609909	TXNRD2	10587	HP:0004308	Ventricular arrhythmia
OMIM:609909	TXNRD2	10587	HP:0006673	Reduced systolic function
OMIM:609909	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:609909	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:609909	DMD	1756	HP:0004308	Ventricular arrhythmia
OMIM:609909	DMD	1756	HP:0006673	Reduced systolic function
OMIM:609909	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:609909	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:609909	TNNC1	7134	HP:0004308	Ventricular arrhythmia
OMIM:609909	TNNC1	7134	HP:0006673	Reduced systolic function
OMIM:609909	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:609909	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:609909	PSEN1	5663	HP:0004308	Ventricular arrhythmia
OMIM:609909	PSEN1	5663	HP:0006673	Reduced systolic function
OMIM:609909	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:609909	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:609909	PSEN2	5664	HP:0004308	Ventricular arrhythmia
OMIM:609909	PSEN2	5664	HP:0006673	Reduced systolic function
OMIM:609909	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:609909	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:609909	TNNI3	7137	HP:0004308	Ventricular arrhythmia
OMIM:609909	TNNI3	7137	HP:0006673	Reduced systolic function
OMIM:609909	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:609909	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:609909	FHL2	2274	HP:0004308	Ventricular arrhythmia
OMIM:609909	FHL2	2274	HP:0006673	Reduced systolic function
OMIM:609909	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:609909	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:609909	TNNT2	7139	HP:0004308	Ventricular arrhythmia
OMIM:609909	TNNT2	7139	HP:0006673	Reduced systolic function
OMIM:609909	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:609909	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:609909	DSG2	1829	HP:0004308	Ventricular arrhythmia
OMIM:609909	DSG2	1829	HP:0006673	Reduced systolic function
OMIM:609909	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:609909	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:609909	PLN	5350	HP:0004308	Ventricular arrhythmia
OMIM:609909	PLN	5350	HP:0006673	Reduced systolic function
OMIM:609909	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:609909	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:609909	PRDM16	63976	HP:0004308	Ventricular arrhythmia
OMIM:609909	PRDM16	63976	HP:0006673	Reduced systolic function
OMIM:609909	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:609909	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:609909	TTN	7273	HP:0004308	Ventricular arrhythmia
OMIM:609909	TTN	7273	HP:0006673	Reduced systolic function
OMIM:609909	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:609909	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:609909	NEXN	91624	HP:0004308	Ventricular arrhythmia
OMIM:609909	NEXN	91624	HP:0006673	Reduced systolic function
OMIM:609909	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:609909	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:609909	FKTN	2218	HP:0004308	Ventricular arrhythmia
OMIM:609909	FKTN	2218	HP:0006673	Reduced systolic function
OMIM:609909	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:609909	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:609909	SGCD	6444	HP:0004308	Ventricular arrhythmia
OMIM:609909	SGCD	6444	HP:0006673	Reduced systolic function
OMIM:609909	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:609909	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:609909	TCAP	8557	HP:0004308	Ventricular arrhythmia
OMIM:609909	TCAP	8557	HP:0006673	Reduced systolic function
OMIM:609909	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:609909	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:609909	CSRP3	8048	HP:0004308	Ventricular arrhythmia
OMIM:609909	CSRP3	8048	HP:0006673	Reduced systolic function
OMIM:609909	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:609909	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:609909	RBM20	282996	HP:0004308	Ventricular arrhythmia
OMIM:609909	RBM20	282996	HP:0006673	Reduced systolic function
OMIM:609909	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:609909	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:609909	SDHA	6389	HP:0004308	Ventricular arrhythmia
OMIM:609909	SDHA	6389	HP:0006673	Reduced systolic function
OMIM:609909	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:609909	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:609909	TAZ	6901	HP:0004308	Ventricular arrhythmia
OMIM:609909	TAZ	6901	HP:0006673	Reduced systolic function
OMIM:609909	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:609909	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:609909	VCL	7414	HP:0004308	Ventricular arrhythmia
OMIM:609909	VCL	7414	HP:0006673	Reduced systolic function
OMIM:609909	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:609909	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:609909	MYPN	84665	HP:0004308	Ventricular arrhythmia
OMIM:609909	MYPN	84665	HP:0006673	Reduced systolic function
OMIM:609909	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:609909	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:609909	SCN5A	6331	HP:0004308	Ventricular arrhythmia
OMIM:609909	SCN5A	6331	HP:0006673	Reduced systolic function
OMIM:609909	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:609909	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:609909	BAG3	9531	HP:0004308	Ventricular arrhythmia
OMIM:609909	BAG3	9531	HP:0006673	Reduced systolic function
OMIM:609909	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:609909	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:609909	DOLK	22845	HP:0004308	Ventricular arrhythmia
OMIM:609909	DOLK	22845	HP:0006673	Reduced systolic function
OMIM:609909	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:609909	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:609909	MYBPC3	4607	HP:0004308	Ventricular arrhythmia
OMIM:609909	MYBPC3	4607	HP:0006673	Reduced systolic function
OMIM:203400	CYP11B2	1585	HP:0001508	Failure to thrive
OMIM:203400	CYP11B2	1585	HP:0002153	Hyperkalemia
OMIM:203400	CYP11B2	1585	HP:0001944	Dehydration
OMIM:203400	CYP11B2	1585	HP:0000007	Autosomal recessive inheritance
OMIM:203400	CYP11B2	1585	HP:0003623	Neonatal onset
OMIM:203400	CYP11B2	1585	HP:0008872	Feeding difficulties in infancy
OMIM:203400	CYP11B2	1585	HP:0001510	Growth delay
OMIM:203400	CYP11B2	1585	HP:0002013	Vomiting
OMIM:208200	FKBP10	60681	HP:0001315	Reduced tendon reflexes
OMIM:208200	FKBP10	60681	HP:0002804	Arthrogryposis multiplex congenita
OMIM:208200	FKBP10	60681	HP:0001288	Gait disturbance
OMIM:208200	FKBP10	60681	HP:0003312	Abnormal form of the vertebral bodies
OMIM:208200	FKBP10	60681	HP:0001376	Limitation of joint mobility
OMIM:208200	FKBP10	60681	HP:0000995	Melanocytic nevus
OMIM:208200	FKBP10	60681	HP:0000889	Abnormality of the clavicle
OMIM:208200	FKBP10	60681	HP:0003202	Skeletal muscle atrophy
OMIM:208200	FKBP10	60681	HP:0001883	Talipes
OMIM:208200	FKBP10	60681	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:208200	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:208200	FKBP10	60681	HP:0002650	Scoliosis
OMIM:208200	FKBP10	60681	HP:0006443	Patellar aplasia
OMIM:612956	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:612956	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:612956	DPP6	1804	HP:0001645	Sudden cardiac death
OMIM:612956	DPP6	1804	HP:0001663	Ventricular fibrillation
OMIM:615191	LAMB1	3912	HP:0002281	Gray matter heterotopias
OMIM:615191	LAMB1	3912	HP:0001252	Muscular hypotonia
OMIM:615191	LAMB1	3912	HP:0002365	Hypoplasia of the brainstem
OMIM:615191	LAMB1	3912	HP:0011344	Severe global developmental delay
OMIM:615191	LAMB1	3912	HP:0001321	Cerebellar hypoplasia
OMIM:615191	LAMB1	3912	HP:0002500	Abnormality of the cerebral white matter
OMIM:615191	LAMB1	3912	HP:0002085	Occipital encephalocele
OMIM:615191	LAMB1	3912	HP:0000648	Optic atrophy
OMIM:615191	LAMB1	3912	HP:0000007	Autosomal recessive inheritance
OMIM:615191	LAMB1	3912	HP:0000238	Hydrocephalus
OMIM:615191	LAMB1	3912	HP:0001339	Lissencephaly
OMIM:615191	LAMB1	3912	HP:0001250	Seizures
OMIM:615191	LAMB1	3912	HP:0000256	Macrocephaly
OMIM:616455	KCNH1	3756	HP:0001249	Intellectual disability
OMIM:616455	KCNH1	3756	HP:0000574	Thick eyebrow
OMIM:616455	KCNH1	3756	HP:0000407	Sensorineural hearing impairment
OMIM:616455	KCNH1	3756	HP:0000431	Wide nasal bridge
OMIM:616455	KCNH1	3756	HP:0000470	Short neck
OMIM:616455	KCNH1	3756	HP:0001290	Generalized hypotonia
OMIM:616455	KCNH1	3756	HP:0000158	Macroglossia
OMIM:616455	KCNH1	3756	HP:0000430	Underdeveloped nasal alae
OMIM:616455	KCNH1	3756	HP:0000212	Gingival overgrowth
OMIM:616455	KCNH1	3756	HP:0000664	Synophrys
OMIM:616455	KCNH1	3756	HP:0002808	Kyphosis
OMIM:616455	KCNH1	3756	HP:0004322	Short stature
OMIM:616455	KCNH1	3756	HP:0012471	Thick vermilion border
OMIM:616455	ATP6V1B2	526	HP:0001249	Intellectual disability
OMIM:616455	ATP6V1B2	526	HP:0000574	Thick eyebrow
OMIM:616455	ATP6V1B2	526	HP:0000407	Sensorineural hearing impairment
OMIM:616455	ATP6V1B2	526	HP:0000431	Wide nasal bridge
OMIM:616455	ATP6V1B2	526	HP:0000470	Short neck
OMIM:616455	ATP6V1B2	526	HP:0001290	Generalized hypotonia
OMIM:616455	ATP6V1B2	526	HP:0000158	Macroglossia
OMIM:616455	ATP6V1B2	526	HP:0000430	Underdeveloped nasal alae
OMIM:616455	ATP6V1B2	526	HP:0000212	Gingival overgrowth
OMIM:616455	ATP6V1B2	526	HP:0000664	Synophrys
OMIM:616455	ATP6V1B2	526	HP:0002808	Kyphosis
OMIM:616455	ATP6V1B2	526	HP:0004322	Short stature
OMIM:616455	ATP6V1B2	526	HP:0012471	Thick vermilion border
OMIM:607706	GDAP1	54332	HP:0003693	Distal amyotrophy
OMIM:607706	GDAP1	54332	HP:0001171	Split hand
OMIM:607706	GDAP1	54332	HP:0001284	Areflexia
OMIM:607706	GDAP1	54332	HP:0002460	Distal muscle weakness
OMIM:607706	GDAP1	54332	HP:0001371	Flexion contracture
OMIM:607706	GDAP1	54332	HP:0003383	Onion bulb formation
OMIM:607706	GDAP1	54332	HP:0002936	Distal sensory impairment
OMIM:607706	GDAP1	54332	HP:0003431	Decreased motor nerve conduction velocity
OMIM:607706	GDAP1	54332	HP:0001604	Vocal cord paresis
OMIM:607706	GDAP1	54332	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:607706	GDAP1	54332	HP:0000007	Autosomal recessive inheritance
OMIM:607706	GDAP1	54332	HP:0003623	Neonatal onset
OMIM:607706	GDAP1	54332	HP:0001761	Pes cavus
OMIM:126700	CFI	3426	HP:0000006	Autosomal dominant inheritance
OMIM:126700	CFI	3426	HP:0000529	Progressive visual loss
OMIM:126700	CFH	3075	HP:0000006	Autosomal dominant inheritance
OMIM:126700	CFH	3075	HP:0000529	Progressive visual loss
OMIM:126700	EFEMP1	2202	HP:0000006	Autosomal dominant inheritance
OMIM:126700	EFEMP1	2202	HP:0000529	Progressive visual loss
OMIM:306955	ZIC3	7547	HP:0001643	Patent ductus arteriosus
OMIM:306955	ZIC3	7547	HP:0001651	Dextrocardia
OMIM:306955	ZIC3	7547	HP:0001748	Polysplenia
OMIM:306955	ZIC3	7547	HP:0001417	X-linked inheritance
OMIM:306955	ZIC3	7547	HP:0001629	Ventricular septal defect
OMIM:306955	ZIC3	7547	HP:0001642	Pulmonic stenosis
OMIM:306955	ZIC3	7547	HP:0003363	Abdominal situs inversus
OMIM:312420	RENBP	5973	HP:0000818	Abnormality of the endocrine system
OMIM:312420	RENBP	5973	HP:0001417	X-linked inheritance
OMIM:613758	RLBP1	6017	HP:0000533	Chorioretinal atrophy
OMIM:613758	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613758	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613758	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613758	RLBP1	6017	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	RLBP1	6017	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	RLBP1	6017	HP:0000505	Visual impairment
OMIM:613758	SPATA7	55812	HP:0000533	Chorioretinal atrophy
OMIM:613758	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613758	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613758	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613758	SPATA7	55812	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	SPATA7	55812	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613758	ARL6	84100	HP:0000533	Chorioretinal atrophy
OMIM:613758	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613758	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613758	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613758	ARL6	84100	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	ARL6	84100	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	ARL6	84100	HP:0000505	Visual impairment
OMIM:613758	CERKL	375298	HP:0000533	Chorioretinal atrophy
OMIM:613758	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613758	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613758	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613758	CERKL	375298	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	CERKL	375298	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	CERKL	375298	HP:0000505	Visual impairment
OMIM:613758	PRPF31	26121	HP:0000533	Chorioretinal atrophy
OMIM:613758	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613758	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613758	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613758	PRPF31	26121	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	PRPF31	26121	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	PRPF31	26121	HP:0000505	Visual impairment
OMIM:613758	TTC8	123016	HP:0000533	Chorioretinal atrophy
OMIM:613758	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613758	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613758	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613758	TTC8	123016	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	TTC8	123016	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	TTC8	123016	HP:0000505	Visual impairment
OMIM:613758	PROM1	8842	HP:0000533	Chorioretinal atrophy
OMIM:613758	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613758	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613758	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613758	PROM1	8842	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	PROM1	8842	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	PROM1	8842	HP:0000505	Visual impairment
OMIM:613758	LRAT	9227	HP:0000533	Chorioretinal atrophy
OMIM:613758	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613758	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613758	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613758	LRAT	9227	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	LRAT	9227	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	LRAT	9227	HP:0000505	Visual impairment
OMIM:613758	IFT140	9742	HP:0000533	Chorioretinal atrophy
OMIM:613758	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613758	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613758	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613758	IFT140	9742	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	IFT140	9742	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	IFT140	9742	HP:0000505	Visual impairment
OMIM:613758	BEST1	7439	HP:0000533	Chorioretinal atrophy
OMIM:613758	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613758	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613758	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613758	BEST1	7439	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	BEST1	7439	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	BEST1	7439	HP:0000505	Visual impairment
OMIM:613758	NEK2	4751	HP:0000533	Chorioretinal atrophy
OMIM:613758	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613758	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613758	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613758	NEK2	4751	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	NEK2	4751	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	NEK2	4751	HP:0000505	Visual impairment
OMIM:613758	ARL2BP	23568	HP:0000533	Chorioretinal atrophy
OMIM:613758	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613758	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613758	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613758	ARL2BP	23568	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	ARL2BP	23568	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:613758	NR2E3	10002	HP:0000533	Chorioretinal atrophy
OMIM:613758	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613758	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613758	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613758	NR2E3	10002	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	NR2E3	10002	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	NR2E3	10002	HP:0000505	Visual impairment
OMIM:613758	EYS	346007	HP:0000533	Chorioretinal atrophy
OMIM:613758	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613758	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613758	EYS	346007	HP:0000662	Nyctalopia
OMIM:613758	EYS	346007	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	EYS	346007	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	EYS	346007	HP:0000505	Visual impairment
OMIM:613758	MAK	4117	HP:0000533	Chorioretinal atrophy
OMIM:613758	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613758	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613758	MAK	4117	HP:0000662	Nyctalopia
OMIM:613758	MAK	4117	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	MAK	4117	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	MAK	4117	HP:0000505	Visual impairment
OMIM:613758	SAG	6295	HP:0000533	Chorioretinal atrophy
OMIM:613758	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613758	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613758	SAG	6295	HP:0000662	Nyctalopia
OMIM:613758	SAG	6295	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	SAG	6295	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	SAG	6295	HP:0000505	Visual impairment
OMIM:613758	ABCA4	24	HP:0000533	Chorioretinal atrophy
OMIM:613758	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613758	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613758	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613758	ABCA4	24	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	ABCA4	24	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	ABCA4	24	HP:0000505	Visual impairment
OMIM:613758	PDE6A	5145	HP:0000533	Chorioretinal atrophy
OMIM:613758	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613758	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613758	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613758	PDE6A	5145	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	PDE6A	5145	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613758	PDE6G	5148	HP:0000533	Chorioretinal atrophy
OMIM:613758	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613758	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613758	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613758	PDE6G	5148	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	PDE6G	5148	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	PDE6G	5148	HP:0000505	Visual impairment
OMIM:613758	IMPDH1	3614	HP:0000533	Chorioretinal atrophy
OMIM:613758	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613758	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613758	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613758	IMPDH1	3614	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	IMPDH1	3614	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613758	OFD1	8481	HP:0000533	Chorioretinal atrophy
OMIM:613758	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613758	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613758	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613758	OFD1	8481	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	OFD1	8481	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	OFD1	8481	HP:0000505	Visual impairment
OMIM:613758	GUCA1B	2979	HP:0000533	Chorioretinal atrophy
OMIM:613758	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613758	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613758	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613758	GUCA1B	2979	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	GUCA1B	2979	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613758	NRL	4901	HP:0000533	Chorioretinal atrophy
OMIM:613758	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613758	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613758	NRL	4901	HP:0000662	Nyctalopia
OMIM:613758	NRL	4901	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	NRL	4901	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	NRL	4901	HP:0000505	Visual impairment
OMIM:613758	PDE6B	5158	HP:0000533	Chorioretinal atrophy
OMIM:613758	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613758	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613758	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613758	PDE6B	5158	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	PDE6B	5158	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	PDE6B	5158	HP:0000505	Visual impairment
OMIM:613758	KLHL7	55975	HP:0000533	Chorioretinal atrophy
OMIM:613758	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613758	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613758	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613758	KLHL7	55975	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	KLHL7	55975	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	KLHL7	55975	HP:0000505	Visual impairment
OMIM:613758	PRPF4	9128	HP:0000533	Chorioretinal atrophy
OMIM:613758	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613758	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613758	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613758	PRPF4	9128	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	PRPF4	9128	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	PRPF4	9128	HP:0000505	Visual impairment
OMIM:613758	PRPF3	9129	HP:0000533	Chorioretinal atrophy
OMIM:613758	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613758	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613758	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613758	PRPF3	9129	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	PRPF3	9129	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	PRPF3	9129	HP:0000505	Visual impairment
OMIM:613758	FAM161A	84140	HP:0000533	Chorioretinal atrophy
OMIM:613758	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613758	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613758	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613758	FAM161A	84140	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	FAM161A	84140	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	FAM161A	84140	HP:0000505	Visual impairment
OMIM:613758	IFT172	26160	HP:0000533	Chorioretinal atrophy
OMIM:613758	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613758	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613758	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613758	IFT172	26160	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	IFT172	26160	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	IFT172	26160	HP:0000505	Visual impairment
OMIM:613758	KIZ	55857	HP:0000533	Chorioretinal atrophy
OMIM:613758	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613758	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613758	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613758	KIZ	55857	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	KIZ	55857	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	KIZ	55857	HP:0000505	Visual impairment
OMIM:613758	CDHR1	92211	HP:0000533	Chorioretinal atrophy
OMIM:613758	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613758	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613758	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613758	CDHR1	92211	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	CDHR1	92211	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	CDHR1	92211	HP:0000505	Visual impairment
OMIM:613758	ZNF408	79797	HP:0000533	Chorioretinal atrophy
OMIM:613758	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613758	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613758	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613758	ZNF408	79797	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	ZNF408	79797	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613758	RBP3	5949	HP:0000533	Chorioretinal atrophy
OMIM:613758	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613758	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613758	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613758	RBP3	5949	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	RBP3	5949	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	RBP3	5949	HP:0000505	Visual impairment
OMIM:613758	HGSNAT	138050	HP:0000533	Chorioretinal atrophy
OMIM:613758	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613758	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613758	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613758	HGSNAT	138050	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	HGSNAT	138050	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:613758	FSCN2	25794	HP:0000533	Chorioretinal atrophy
OMIM:613758	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613758	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613758	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613758	FSCN2	25794	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	FSCN2	25794	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	FSCN2	25794	HP:0000505	Visual impairment
OMIM:613758	PRCD	768206	HP:0000533	Chorioretinal atrophy
OMIM:613758	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613758	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613758	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613758	PRCD	768206	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	PRCD	768206	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	PRCD	768206	HP:0000505	Visual impairment
OMIM:613758	BBS2	583	HP:0000533	Chorioretinal atrophy
OMIM:613758	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613758	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613758	BBS2	583	HP:0000662	Nyctalopia
OMIM:613758	BBS2	583	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	BBS2	583	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	BBS2	583	HP:0000505	Visual impairment
OMIM:613758	RDH12	145226	HP:0000533	Chorioretinal atrophy
OMIM:613758	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613758	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613758	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613758	RDH12	145226	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	RDH12	145226	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	RDH12	145226	HP:0000505	Visual impairment
OMIM:613758	PRPH2	5961	HP:0000533	Chorioretinal atrophy
OMIM:613758	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613758	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613758	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613758	PRPH2	5961	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	PRPH2	5961	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	PRPH2	5961	HP:0000505	Visual impairment
OMIM:613758	DHDDS	79947	HP:0000533	Chorioretinal atrophy
OMIM:613758	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613758	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613758	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613758	DHDDS	79947	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	DHDDS	79947	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	DHDDS	79947	HP:0000505	Visual impairment
OMIM:613758	ROM1	6094	HP:0000533	Chorioretinal atrophy
OMIM:613758	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613758	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613758	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613758	ROM1	6094	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	ROM1	6094	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	ROM1	6094	HP:0000505	Visual impairment
OMIM:613758	C2ORF71	388939	HP:0000533	Chorioretinal atrophy
OMIM:613758	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613758	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613758	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613758	C2ORF71	388939	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	C2ORF71	388939	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613758	RP9	6100	HP:0000533	Chorioretinal atrophy
OMIM:613758	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613758	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613758	RP9	6100	HP:0000662	Nyctalopia
OMIM:613758	RP9	6100	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	RP9	6100	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	RP9	6100	HP:0000505	Visual impairment
OMIM:613758	PRPF6	24148	HP:0000533	Chorioretinal atrophy
OMIM:613758	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613758	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613758	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613758	PRPF6	24148	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	PRPF6	24148	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613758	RP1	6101	HP:0000533	Chorioretinal atrophy
OMIM:613758	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613758	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613758	RP1	6101	HP:0000662	Nyctalopia
OMIM:613758	RP1	6101	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	RP1	6101	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	RP1	6101	HP:0000505	Visual impairment
OMIM:613758	RP2	6102	HP:0000533	Chorioretinal atrophy
OMIM:613758	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613758	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613758	RP2	6102	HP:0000662	Nyctalopia
OMIM:613758	RP2	6102	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	RP2	6102	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	RP2	6102	HP:0000505	Visual impairment
OMIM:613758	RPGR	6103	HP:0000533	Chorioretinal atrophy
OMIM:613758	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613758	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613758	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613758	RPGR	6103	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	RPGR	6103	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	RPGR	6103	HP:0000505	Visual impairment
OMIM:613758	SEMA4A	64218	HP:0000533	Chorioretinal atrophy
OMIM:613758	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613758	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613758	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613758	SEMA4A	64218	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	SEMA4A	64218	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:613758	C8ORF37	157657	HP:0000533	Chorioretinal atrophy
OMIM:613758	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613758	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613758	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613758	C8ORF37	157657	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	C8ORF37	157657	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:613758	IDH3B	3420	HP:0000533	Chorioretinal atrophy
OMIM:613758	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613758	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613758	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613758	IDH3B	3420	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	IDH3B	3420	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	IDH3B	3420	HP:0000505	Visual impairment
OMIM:613758	MERTK	10461	HP:0000533	Chorioretinal atrophy
OMIM:613758	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613758	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613758	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613758	MERTK	10461	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	MERTK	10461	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	MERTK	10461	HP:0000505	Visual impairment
OMIM:613758	PRPF8	10594	HP:0000533	Chorioretinal atrophy
OMIM:613758	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613758	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613758	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613758	PRPF8	10594	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	PRPF8	10594	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	PRPF8	10594	HP:0000505	Visual impairment
OMIM:613758	TOPORS	10210	HP:0000533	Chorioretinal atrophy
OMIM:613758	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613758	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613758	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613758	TOPORS	10210	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	TOPORS	10210	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	TOPORS	10210	HP:0000505	Visual impairment
OMIM:613758	USH2A	7399	HP:0000533	Chorioretinal atrophy
OMIM:613758	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613758	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613758	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613758	USH2A	7399	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	USH2A	7399	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	USH2A	7399	HP:0000505	Visual impairment
OMIM:613758	RPE65	6121	HP:0000533	Chorioretinal atrophy
OMIM:613758	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613758	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613758	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613758	RPE65	6121	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	RPE65	6121	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	RPE65	6121	HP:0000505	Visual impairment
OMIM:613758	CLRN1	7401	HP:0000533	Chorioretinal atrophy
OMIM:613758	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613758	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613758	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613758	CLRN1	7401	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	CLRN1	7401	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	CLRN1	7401	HP:0000505	Visual impairment
OMIM:613758	CNGB1	1258	HP:0000533	Chorioretinal atrophy
OMIM:613758	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613758	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613758	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613758	CNGB1	1258	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	CNGB1	1258	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	CNGB1	1258	HP:0000505	Visual impairment
OMIM:613758	RGR	5995	HP:0000533	Chorioretinal atrophy
OMIM:613758	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613758	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613758	RGR	5995	HP:0000662	Nyctalopia
OMIM:613758	RGR	5995	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	RGR	5995	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	RGR	5995	HP:0000505	Visual impairment
OMIM:613758	CNGA1	1259	HP:0000533	Chorioretinal atrophy
OMIM:613758	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613758	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613758	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613758	CNGA1	1259	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	CNGA1	1259	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	CNGA1	1259	HP:0000505	Visual impairment
OMIM:613758	TUB	7275	HP:0000533	Chorioretinal atrophy
OMIM:613758	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613758	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613758	TUB	7275	HP:0000662	Nyctalopia
OMIM:613758	TUB	7275	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	TUB	7275	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	TUB	7275	HP:0000505	Visual impairment
OMIM:613758	SNRNP200	23020	HP:0000533	Chorioretinal atrophy
OMIM:613758	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613758	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613758	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613758	SNRNP200	23020	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	SNRNP200	23020	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:613758	SLC7A14	57709	HP:0000533	Chorioretinal atrophy
OMIM:613758	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613758	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613758	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613758	SLC7A14	57709	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	SLC7A14	57709	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:613758	TULP1	7287	HP:0000533	Chorioretinal atrophy
OMIM:613758	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613758	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613758	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613758	TULP1	7287	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	TULP1	7287	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	TULP1	7287	HP:0000505	Visual impairment
OMIM:613758	RHO	6010	HP:0000533	Chorioretinal atrophy
OMIM:613758	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613758	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613758	RHO	6010	HP:0000662	Nyctalopia
OMIM:613758	RHO	6010	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	RHO	6010	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	RHO	6010	HP:0000505	Visual impairment
OMIM:613758	CA4	762	HP:0000533	Chorioretinal atrophy
OMIM:613758	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613758	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613758	CA4	762	HP:0000662	Nyctalopia
OMIM:613758	CA4	762	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	CA4	762	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	CA4	762	HP:0000505	Visual impairment
OMIM:613758	CRB1	23418	HP:0000533	Chorioretinal atrophy
OMIM:613758	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613758	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613758	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613758	CRB1	23418	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	CRB1	23418	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	CRB1	23418	HP:0000505	Visual impairment
OMIM:613758	IMPG2	50939	HP:0000533	Chorioretinal atrophy
OMIM:613758	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613758	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613758	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613758	IMPG2	50939	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	IMPG2	50939	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613758	ZNF513	130557	HP:0000533	Chorioretinal atrophy
OMIM:613758	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613758	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613758	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613758	ZNF513	130557	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	ZNF513	130557	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	ZNF513	130557	HP:0000505	Visual impairment
OMIM:613758	CRX	1406	HP:0000533	Chorioretinal atrophy
OMIM:613758	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613758	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613758	CRX	1406	HP:0000662	Nyctalopia
OMIM:613758	CRX	1406	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	CRX	1406	HP:0001146	Pigmentary retinal degeneration
OMIM:613758	CRX	1406	HP:0000505	Visual impairment
OMIM:613496	CD19	930	HP:0004313	Decreased antibody level in blood
OMIM:613496	CD19	930	HP:0002205	Recurrent respiratory infections
OMIM:613496	CD19	930	HP:0000007	Autosomal recessive inheritance
OMIM:613496	CD19	930	HP:0002721	Immunodeficiency
OMIM:613496	CD19	930	HP:0000979	Purpura
OMIM:613496	CD19	930	HP:0002718	Recurrent bacterial infections
OMIM:613496	TNFRSF13C	115650	HP:0004313	Decreased antibody level in blood
OMIM:613496	TNFRSF13C	115650	HP:0002205	Recurrent respiratory infections
OMIM:613496	TNFRSF13C	115650	HP:0000007	Autosomal recessive inheritance
OMIM:613496	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:613496	TNFRSF13C	115650	HP:0000979	Purpura
OMIM:613496	TNFRSF13C	115650	HP:0002718	Recurrent bacterial infections
OMIM:613496	MS4A1	931	HP:0004313	Decreased antibody level in blood
OMIM:613496	MS4A1	931	HP:0002205	Recurrent respiratory infections
OMIM:613496	MS4A1	931	HP:0000007	Autosomal recessive inheritance
OMIM:613496	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:613496	MS4A1	931	HP:0000979	Purpura
OMIM:613496	MS4A1	931	HP:0002718	Recurrent bacterial infections
OMIM:613496	CR2	1380	HP:0004313	Decreased antibody level in blood
OMIM:613496	CR2	1380	HP:0002205	Recurrent respiratory infections
OMIM:613496	CR2	1380	HP:0000007	Autosomal recessive inheritance
OMIM:613496	CR2	1380	HP:0002721	Immunodeficiency
OMIM:613496	CR2	1380	HP:0000979	Purpura
OMIM:613496	CR2	1380	HP:0002718	Recurrent bacterial infections
OMIM:613496	TNFSF12	8742	HP:0004313	Decreased antibody level in blood
OMIM:613496	TNFSF12	8742	HP:0002205	Recurrent respiratory infections
OMIM:613496	TNFSF12	8742	HP:0000007	Autosomal recessive inheritance
OMIM:613496	TNFSF12	8742	HP:0002721	Immunodeficiency
OMIM:613496	TNFSF12	8742	HP:0000979	Purpura
OMIM:613496	TNFSF12	8742	HP:0002718	Recurrent bacterial infections
OMIM:613496	NFKB1	4790	HP:0004313	Decreased antibody level in blood
OMIM:613496	NFKB1	4790	HP:0002205	Recurrent respiratory infections
OMIM:613496	NFKB1	4790	HP:0000007	Autosomal recessive inheritance
OMIM:613496	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:613496	NFKB1	4790	HP:0000979	Purpura
OMIM:613496	NFKB1	4790	HP:0002718	Recurrent bacterial infections
OMIM:613496	TNFRSF13B	23495	HP:0004313	Decreased antibody level in blood
OMIM:613496	TNFRSF13B	23495	HP:0002205	Recurrent respiratory infections
OMIM:613496	TNFRSF13B	23495	HP:0000007	Autosomal recessive inheritance
OMIM:613496	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:613496	TNFRSF13B	23495	HP:0000979	Purpura
OMIM:613496	TNFRSF13B	23495	HP:0002718	Recurrent bacterial infections
OMIM:613496	NFKB2	4791	HP:0004313	Decreased antibody level in blood
OMIM:613496	NFKB2	4791	HP:0002205	Recurrent respiratory infections
OMIM:613496	NFKB2	4791	HP:0000007	Autosomal recessive inheritance
OMIM:613496	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:613496	NFKB2	4791	HP:0000979	Purpura
OMIM:613496	NFKB2	4791	HP:0002718	Recurrent bacterial infections
OMIM:613496	ICOS	29851	HP:0004313	Decreased antibody level in blood
OMIM:613496	ICOS	29851	HP:0002205	Recurrent respiratory infections
OMIM:613496	ICOS	29851	HP:0000007	Autosomal recessive inheritance
OMIM:613496	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:613496	ICOS	29851	HP:0000979	Purpura
OMIM:613496	ICOS	29851	HP:0002718	Recurrent bacterial infections
OMIM:613496	LRBA	987	HP:0004313	Decreased antibody level in blood
OMIM:613496	LRBA	987	HP:0002205	Recurrent respiratory infections
OMIM:613496	LRBA	987	HP:0000007	Autosomal recessive inheritance
OMIM:613496	LRBA	987	HP:0002721	Immunodeficiency
OMIM:613496	LRBA	987	HP:0000979	Purpura
OMIM:613496	LRBA	987	HP:0002718	Recurrent bacterial infections
OMIM:613496	PRKCD	5580	HP:0004313	Decreased antibody level in blood
OMIM:613496	PRKCD	5580	HP:0002205	Recurrent respiratory infections
OMIM:613496	PRKCD	5580	HP:0000007	Autosomal recessive inheritance
OMIM:613496	PRKCD	5580	HP:0002721	Immunodeficiency
OMIM:613496	PRKCD	5580	HP:0000979	Purpura
OMIM:613496	PRKCD	5580	HP:0002718	Recurrent bacterial infections
OMIM:613496	CD81	975	HP:0004313	Decreased antibody level in blood
OMIM:613496	CD81	975	HP:0002205	Recurrent respiratory infections
OMIM:613496	CD81	975	HP:0000007	Autosomal recessive inheritance
OMIM:613496	CD81	975	HP:0002721	Immunodeficiency
OMIM:613496	CD81	975	HP:0000979	Purpura
OMIM:613496	CD81	975	HP:0002718	Recurrent bacterial infections
OMIM:615425	DST	667	HP:0008404	Nail dystrophy
OMIM:615425	DST	667	HP:0000007	Autosomal recessive inheritance
OMIM:615425	DST	667	HP:0001075	Atrophic scars
OMIM:230600	GLB1	2720	HP:0001288	Gait disturbance
OMIM:230600	GLB1	2720	HP:0001251	Ataxia
OMIM:230600	GLB1	2720	HP:0001392	Abnormality of the liver
OMIM:230600	GLB1	2720	HP:0001743	Abnormality of the spleen
OMIM:230600	GLB1	2720	HP:0000648	Optic atrophy
OMIM:230600	GLB1	2720	HP:0002123	Generalized myoclonic seizures
OMIM:230600	GLB1	2720	HP:0002059	Cerebral atrophy
OMIM:230600	GLB1	2720	HP:0002119	Ventriculomegaly
OMIM:230600	GLB1	2720	HP:0002510	Spastic tetraplegia
OMIM:230600	GLB1	2720	HP:0000007	Autosomal recessive inheritance
OMIM:230600	GLB1	2720	HP:0000271	Abnormality of the face
OMIM:230600	GLB1	2720	HP:0002673	Coxa valga
OMIM:230600	GLB1	2720	HP:0000926	Platyspondyly
OMIM:608782	PDP1	54704	HP:0000639	Nystagmus
OMIM:608782	PDP1	54704	HP:0002015	Dysphagia
OMIM:608782	PDP1	54704	HP:0002066	Gait ataxia
OMIM:608782	PDP1	54704	HP:0000007	Autosomal recessive inheritance
OMIM:608782	PDP1	54704	HP:0003593	Infantile onset
OMIM:608782	PDP1	54704	HP:0001250	Seizures
OMIM:608782	PDP1	54704	HP:0003128	Lactic acidosis
OMIM:608782	PDP1	54704	HP:0001249	Intellectual disability
OMIM:608782	PDP1	54704	HP:0001263	Global developmental delay
OMIM:608782	PDP1	54704	HP:0001252	Muscular hypotonia
OMIM:157900	PLXND1	23129	HP:0000470	Short neck
OMIM:157900	PLXND1	23129	HP:0000298	Mask-like facies
OMIM:157900	PLXND1	23129	HP:0001159	Syndactyly
OMIM:157900	PLXND1	23129	HP:0002365	Hypoplasia of the brainstem
OMIM:157900	PLXND1	23129	HP:0000597	Ophthalmoparesis
OMIM:157900	PLXND1	23129	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:157900	PLXND1	23129	HP:0000006	Autosomal dominant inheritance
OMIM:157900	PLXND1	23129	HP:0002880	Respiratory difficulties
OMIM:157900	PLXND1	23129	HP:0000750	Delayed speech and language development
OMIM:157900	PLXND1	23129	HP:0002804	Arthrogryposis multiplex congenita
OMIM:157900	PLXND1	23129	HP:0009803	Short phalanx of finger
OMIM:157900	PLXND1	23129	HP:0000505	Visual impairment
OMIM:157900	PLXND1	23129	HP:0000218	High palate
OMIM:157900	PLXND1	23129	HP:0000508	Ptosis
OMIM:157900	PLXND1	23129	HP:0000568	Microphthalmia
OMIM:157900	PLXND1	23129	HP:0001156	Brachydactyly syndrome
OMIM:157900	PLXND1	23129	HP:0000691	Microdontia
OMIM:157900	PLXND1	23129	HP:0002997	Abnormality of the ulna
OMIM:157900	PLXND1	23129	HP:0000347	Micrognathia
OMIM:157900	PLXND1	23129	HP:0004408	Abnormality of the sense of smell
OMIM:157900	PLXND1	23129	HP:0005280	Depressed nasal bridge
OMIM:157900	PLXND1	23129	HP:0008872	Feeding difficulties in infancy
OMIM:157900	PLXND1	23129	HP:0000957	Cafe-au-lait spot
OMIM:157900	PLXND1	23129	HP:0001171	Split hand
OMIM:157900	PLXND1	23129	HP:0006101	Finger syndactyly
OMIM:157900	PLXND1	23129	HP:0001608	Abnormality of the voice
OMIM:157900	PLXND1	23129	HP:0000175	Cleft palate
OMIM:157900	PLXND1	23129	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:157900	PLXND1	23129	HP:0000717	Autism
OMIM:157900	PLXND1	23129	HP:0000316	Hypertelorism
OMIM:157900	PLXND1	23129	HP:0001256	Intellectual disability, mild
OMIM:157900	PLXND1	23129	HP:0030084	Clinodactyly
OMIM:157900	PLXND1	23129	HP:0009804	Reduced number of teeth
OMIM:157900	PLXND1	23129	HP:0008734	Decreased testicular size
OMIM:157900	PLXND1	23129	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:157900	PLXND1	23129	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:157900	PLXND1	23129	HP:0001739	Abnormality of the nasopharynx
OMIM:157900	PLXND1	23129	HP:0001763	Pes planus
OMIM:157900	PLXND1	23129	HP:0012385	Camptodactyly
OMIM:157900	PLXND1	23129	HP:0000377	Abnormality of the pinna
OMIM:157900	PLXND1	23129	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:157900	PLXND1	23129	HP:0009816	Lower limb undergrowth
OMIM:157900	PLXND1	23129	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:157900	PLXND1	23129	HP:0001597	Abnormality of the nail
OMIM:157900	PLXND1	23129	HP:0000577	Exotropia
OMIM:157900	PLXND1	23129	HP:0003202	Skeletal muscle atrophy
OMIM:157900	PLXND1	23129	HP:0001762	Talipes equinovarus
OMIM:157900	PLXND1	23129	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:157900	PLXND1	23129	HP:0002015	Dysphagia
OMIM:157900	PLXND1	23129	HP:0002370	Poor coordination
OMIM:157900	PLXND1	23129	HP:0004209	Clinodactyly of the 5th finger
OMIM:157900	PLXND1	23129	HP:0000565	Esotropia
OMIM:157900	PLXND1	23129	HP:0000498	Blepharitis
OMIM:157900	PLXND1	23129	HP:0000232	Everted lower lip vermilion
OMIM:157900	PLXND1	23129	HP:0001270	Motor delay
OMIM:157900	PLXND1	23129	HP:0000486	Strabismus
OMIM:157900	PLXND1	23129	HP:0003745	Sporadic
OMIM:157900	PLXND1	23129	HP:0009466	Radial deviation of finger
OMIM:157900	PLXND1	23129	HP:0001288	Gait disturbance
OMIM:157900	PLXND1	23129	HP:0007759	Opacification of the corneal stroma
OMIM:157900	PLXND1	23129	HP:0001883	Talipes
OMIM:157900	PLXND1	23129	HP:0000193	Bifid uvula
OMIM:157900	PLXND1	23129	HP:0000054	Micropenis
OMIM:157900	PLXND1	23129	HP:0000286	Epicanthus
OMIM:157900	PLXND1	23129	HP:0000365	Hearing impairment
OMIM:157900	PLXND1	23129	HP:0000194	Open mouth
OMIM:157900	PLXND1	23129	HP:0001252	Muscular hypotonia
OMIM:157900	PLXND1	23129	HP:0001260	Dysarthria
OMIM:157900	PLXND1	23129	HP:0002075	Dysdiadochokinesis
OMIM:157900	PLXND1	23129	HP:0003812	Phenotypic variability
OMIM:157900	REV3L	5980	HP:0000470	Short neck
OMIM:157900	REV3L	5980	HP:0000298	Mask-like facies
OMIM:157900	REV3L	5980	HP:0001159	Syndactyly
OMIM:157900	REV3L	5980	HP:0002365	Hypoplasia of the brainstem
OMIM:157900	REV3L	5980	HP:0000597	Ophthalmoparesis
OMIM:157900	REV3L	5980	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:157900	REV3L	5980	HP:0000006	Autosomal dominant inheritance
OMIM:157900	REV3L	5980	HP:0002880	Respiratory difficulties
OMIM:157900	REV3L	5980	HP:0000750	Delayed speech and language development
OMIM:157900	REV3L	5980	HP:0002804	Arthrogryposis multiplex congenita
OMIM:157900	REV3L	5980	HP:0009803	Short phalanx of finger
OMIM:157900	REV3L	5980	HP:0000505	Visual impairment
OMIM:157900	REV3L	5980	HP:0000218	High palate
OMIM:157900	REV3L	5980	HP:0000508	Ptosis
OMIM:157900	REV3L	5980	HP:0000568	Microphthalmia
OMIM:157900	REV3L	5980	HP:0001156	Brachydactyly syndrome
OMIM:157900	REV3L	5980	HP:0000691	Microdontia
OMIM:157900	REV3L	5980	HP:0002997	Abnormality of the ulna
OMIM:157900	REV3L	5980	HP:0000347	Micrognathia
OMIM:157900	REV3L	5980	HP:0004408	Abnormality of the sense of smell
OMIM:157900	REV3L	5980	HP:0005280	Depressed nasal bridge
OMIM:157900	REV3L	5980	HP:0008872	Feeding difficulties in infancy
OMIM:157900	REV3L	5980	HP:0000957	Cafe-au-lait spot
OMIM:157900	REV3L	5980	HP:0001171	Split hand
OMIM:157900	REV3L	5980	HP:0006101	Finger syndactyly
OMIM:157900	REV3L	5980	HP:0001608	Abnormality of the voice
OMIM:157900	REV3L	5980	HP:0000175	Cleft palate
OMIM:157900	REV3L	5980	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:157900	REV3L	5980	HP:0000717	Autism
OMIM:157900	REV3L	5980	HP:0000316	Hypertelorism
OMIM:157900	REV3L	5980	HP:0001256	Intellectual disability, mild
OMIM:157900	REV3L	5980	HP:0030084	Clinodactyly
OMIM:157900	REV3L	5980	HP:0009804	Reduced number of teeth
OMIM:157900	REV3L	5980	HP:0008734	Decreased testicular size
OMIM:157900	REV3L	5980	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:157900	REV3L	5980	HP:0000932	Abnormality of the posterior cranial fossa
OMIM:157900	REV3L	5980	HP:0001739	Abnormality of the nasopharynx
OMIM:157900	REV3L	5980	HP:0001763	Pes planus
OMIM:157900	REV3L	5980	HP:0012385	Camptodactyly
OMIM:157900	REV3L	5980	HP:0000377	Abnormality of the pinna
OMIM:157900	REV3L	5980	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:157900	REV3L	5980	HP:0009816	Lower limb undergrowth
OMIM:157900	REV3L	5980	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:157900	REV3L	5980	HP:0001597	Abnormality of the nail
OMIM:157900	REV3L	5980	HP:0000577	Exotropia
OMIM:157900	REV3L	5980	HP:0003202	Skeletal muscle atrophy
OMIM:157900	REV3L	5980	HP:0001762	Talipes equinovarus
OMIM:157900	REV3L	5980	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:157900	REV3L	5980	HP:0002015	Dysphagia
OMIM:157900	REV3L	5980	HP:0002370	Poor coordination
OMIM:157900	REV3L	5980	HP:0004209	Clinodactyly of the 5th finger
OMIM:157900	REV3L	5980	HP:0000565	Esotropia
OMIM:157900	REV3L	5980	HP:0000498	Blepharitis
OMIM:157900	REV3L	5980	HP:0000232	Everted lower lip vermilion
OMIM:157900	REV3L	5980	HP:0001270	Motor delay
OMIM:157900	REV3L	5980	HP:0000486	Strabismus
OMIM:157900	REV3L	5980	HP:0003745	Sporadic
OMIM:157900	REV3L	5980	HP:0009466	Radial deviation of finger
OMIM:157900	REV3L	5980	HP:0001288	Gait disturbance
OMIM:157900	REV3L	5980	HP:0007759	Opacification of the corneal stroma
OMIM:157900	REV3L	5980	HP:0001883	Talipes
OMIM:157900	REV3L	5980	HP:0000193	Bifid uvula
OMIM:157900	REV3L	5980	HP:0000054	Micropenis
OMIM:157900	REV3L	5980	HP:0000286	Epicanthus
OMIM:157900	REV3L	5980	HP:0000365	Hearing impairment
OMIM:157900	REV3L	5980	HP:0000194	Open mouth
OMIM:157900	REV3L	5980	HP:0001252	Muscular hypotonia
OMIM:157900	REV3L	5980	HP:0001260	Dysarthria
OMIM:157900	REV3L	5980	HP:0002075	Dysdiadochokinesis
OMIM:157900	REV3L	5980	HP:0003812	Phenotypic variability
OMIM:603147	ALG6	29929	HP:0100543	Cognitive impairment
OMIM:603147	ALG6	29929	HP:0008936	Muscular hypotonia of the trunk
OMIM:603147	ALG6	29929	HP:0001251	Ataxia
OMIM:603147	ALG6	29929	HP:0001263	Global developmental delay
OMIM:603147	ALG6	29929	HP:0001399	Hepatic failure
OMIM:603147	ALG6	29929	HP:0000007	Autosomal recessive inheritance
OMIM:603147	ALG6	29929	HP:0001284	Areflexia
OMIM:603147	ALG6	29929	HP:0001250	Seizures
OMIM:603147	ALG6	29929	HP:0001252	Muscular hypotonia
OMIM:603147	ALG6	29929	HP:0000486	Strabismus
OMIM:147892	DIO1	1733	HP:0000006	Autosomal dominant inheritance
OMIM:147892	DIO1	1733	HP:0000853	Goiter
OMIM:615270	PROK2	60675	HP:0000135	Hypogonadism
OMIM:615270	PROK2	60675	HP:0000939	Osteoporosis
OMIM:615270	PROK2	60675	HP:0000938	Osteopenia
OMIM:615270	PROKR2	128674	HP:0000135	Hypogonadism
OMIM:615270	PROKR2	128674	HP:0000939	Osteoporosis
OMIM:615270	PROKR2	128674	HP:0000938	Osteopenia
OMIM:615270	SEMA3A	10371	HP:0000135	Hypogonadism
OMIM:615270	SEMA3A	10371	HP:0000939	Osteoporosis
OMIM:615270	SEMA3A	10371	HP:0000938	Osteopenia
OMIM:615270	IL17RD	54756	HP:0000135	Hypogonadism
OMIM:615270	IL17RD	54756	HP:0000939	Osteoporosis
OMIM:615270	IL17RD	54756	HP:0000938	Osteopenia
OMIM:615270	WDR11	55717	HP:0000135	Hypogonadism
OMIM:615270	WDR11	55717	HP:0000939	Osteoporosis
OMIM:615270	WDR11	55717	HP:0000938	Osteopenia
OMIM:615270	KISS1	3814	HP:0000135	Hypogonadism
OMIM:615270	KISS1	3814	HP:0000939	Osteoporosis
OMIM:615270	KISS1	3814	HP:0000938	Osteopenia
OMIM:615270	SOX10	6663	HP:0000135	Hypogonadism
OMIM:615270	SOX10	6663	HP:0000939	Osteoporosis
OMIM:615270	SOX10	6663	HP:0000938	Osteopenia
OMIM:615270	FEZF1	389549	HP:0000135	Hypogonadism
OMIM:615270	FEZF1	389549	HP:0000939	Osteoporosis
OMIM:615270	FEZF1	389549	HP:0000938	Osteopenia
OMIM:615270	GNRH1	2796	HP:0000135	Hypogonadism
OMIM:615270	GNRH1	2796	HP:0000939	Osteoporosis
OMIM:615270	GNRH1	2796	HP:0000938	Osteopenia
OMIM:615270	FGF8	2253	HP:0000135	Hypogonadism
OMIM:615270	FGF8	2253	HP:0000939	Osteoporosis
OMIM:615270	FGF8	2253	HP:0000938	Osteopenia
OMIM:615270	GNRHR	2798	HP:0000135	Hypogonadism
OMIM:615270	GNRHR	2798	HP:0000939	Osteoporosis
OMIM:615270	GNRHR	2798	HP:0000938	Osteopenia
OMIM:615270	ANOS1	3730	HP:0000135	Hypogonadism
OMIM:615270	ANOS1	3730	HP:0000939	Osteoporosis
OMIM:615270	ANOS1	3730	HP:0000938	Osteopenia
OMIM:615270	TAC3	6866	HP:0000135	Hypogonadism
OMIM:615270	TAC3	6866	HP:0000939	Osteoporosis
OMIM:615270	TAC3	6866	HP:0000938	Osteopenia
OMIM:615270	HS6ST1	9394	HP:0000135	Hypogonadism
OMIM:615270	HS6ST1	9394	HP:0000939	Osteoporosis
OMIM:615270	HS6ST1	9394	HP:0000938	Osteopenia
OMIM:615270	CHD7	55636	HP:0000135	Hypogonadism
OMIM:615270	CHD7	55636	HP:0000939	Osteoporosis
OMIM:615270	CHD7	55636	HP:0000938	Osteopenia
OMIM:615270	FGFR1	2260	HP:0000135	Hypogonadism
OMIM:615270	FGFR1	2260	HP:0000939	Osteoporosis
OMIM:615270	FGFR1	2260	HP:0000938	Osteopenia
OMIM:615270	HESX1	8820	HP:0000135	Hypogonadism
OMIM:615270	HESX1	8820	HP:0000939	Osteoporosis
OMIM:615270	HESX1	8820	HP:0000938	Osteopenia
OMIM:615270	FGF17	8822	HP:0000135	Hypogonadism
OMIM:615270	FGF17	8822	HP:0000939	Osteoporosis
OMIM:615270	FGF17	8822	HP:0000938	Osteopenia
OMIM:615270	TACR3	6870	HP:0000135	Hypogonadism
OMIM:615270	TACR3	6870	HP:0000939	Osteoporosis
OMIM:615270	TACR3	6870	HP:0000938	Osteopenia
OMIM:615270	FLRT3	23767	HP:0000135	Hypogonadism
OMIM:615270	FLRT3	23767	HP:0000939	Osteoporosis
OMIM:615270	FLRT3	23767	HP:0000938	Osteopenia
OMIM:615270	DUSP6	1848	HP:0000135	Hypogonadism
OMIM:615270	DUSP6	1848	HP:0000939	Osteoporosis
OMIM:615270	DUSP6	1848	HP:0000938	Osteopenia
OMIM:615270	SPRY4	81848	HP:0000135	Hypogonadism
OMIM:615270	SPRY4	81848	HP:0000939	Osteoporosis
OMIM:615270	SPRY4	81848	HP:0000938	Osteopenia
OMIM:615270	KISS1R	84634	HP:0000135	Hypogonadism
OMIM:615270	KISS1R	84634	HP:0000939	Osteoporosis
OMIM:615270	KISS1R	84634	HP:0000938	Osteopenia
OMIM:615270	NSMF	26012	HP:0000135	Hypogonadism
OMIM:615270	NSMF	26012	HP:0000939	Osteoporosis
OMIM:615270	NSMF	26012	HP:0000938	Osteopenia
OMIM:226670	PLEC	5339	HP:0004322	Short stature
OMIM:226670	PLEC	5339	HP:0000682	Abnormality of dental enamel
OMIM:226670	PLEC	5339	HP:0000670	Carious teeth
OMIM:226670	PLEC	5339	HP:0003560	Muscular dystrophy
OMIM:226670	PLEC	5339	HP:0001596	Alopecia
OMIM:226670	PLEC	5339	HP:0009025	Increased connective tissue
OMIM:226670	PLEC	5339	HP:0003198	Myopathy
OMIM:226670	PLEC	5339	HP:0000007	Autosomal recessive inheritance
OMIM:226670	PLEC	5339	HP:0001231	Abnormality of the fingernails
OMIM:226670	PLEC	5339	HP:0002167	Neurological speech impairment
OMIM:226670	PLEC	5339	HP:0000508	Ptosis
OMIM:226670	PLEC	5339	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:226670	PLEC	5339	HP:0002164	Nail dysplasia
OMIM:226670	PLEC	5339	HP:0000491	Keratitis
OMIM:226670	PLEC	5339	HP:0006297	Hypoplasia of dental enamel
OMIM:226670	PLEC	5339	HP:0008404	Nail dystrophy
OMIM:226670	PLEC	5339	HP:0001903	Anemia
OMIM:226670	PLEC	5339	HP:0000597	Ophthalmoparesis
OMIM:609923	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:609923	RLBP1	6017	HP:0000512	Abnormal electroretinogram
OMIM:609923	RLBP1	6017	HP:0001123	Visual field defect
OMIM:609923	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:609923	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	RLBP1	6017	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:609923	SPATA7	55812	HP:0000512	Abnormal electroretinogram
OMIM:609923	SPATA7	55812	HP:0001123	Visual field defect
OMIM:609923	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:609923	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	SPATA7	55812	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:609923	ARL6	84100	HP:0000512	Abnormal electroretinogram
OMIM:609923	ARL6	84100	HP:0001123	Visual field defect
OMIM:609923	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:609923	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	ARL6	84100	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:609923	CERKL	375298	HP:0000512	Abnormal electroretinogram
OMIM:609923	CERKL	375298	HP:0001123	Visual field defect
OMIM:609923	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:609923	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	CERKL	375298	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:609923	PRPF31	26121	HP:0000512	Abnormal electroretinogram
OMIM:609923	PRPF31	26121	HP:0001123	Visual field defect
OMIM:609923	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:609923	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	PRPF31	26121	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:609923	TTC8	123016	HP:0000512	Abnormal electroretinogram
OMIM:609923	TTC8	123016	HP:0001123	Visual field defect
OMIM:609923	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:609923	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	TTC8	123016	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:609923	PROM1	8842	HP:0000512	Abnormal electroretinogram
OMIM:609923	PROM1	8842	HP:0001123	Visual field defect
OMIM:609923	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:609923	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	PROM1	8842	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:609923	LRAT	9227	HP:0000512	Abnormal electroretinogram
OMIM:609923	LRAT	9227	HP:0001123	Visual field defect
OMIM:609923	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:609923	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	LRAT	9227	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:609923	IFT140	9742	HP:0000512	Abnormal electroretinogram
OMIM:609923	IFT140	9742	HP:0001123	Visual field defect
OMIM:609923	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:609923	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	IFT140	9742	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:609923	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:609923	BEST1	7439	HP:0001123	Visual field defect
OMIM:609923	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:609923	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	BEST1	7439	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:609923	NEK2	4751	HP:0000512	Abnormal electroretinogram
OMIM:609923	NEK2	4751	HP:0001123	Visual field defect
OMIM:609923	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:609923	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	NEK2	4751	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:609923	ARL2BP	23568	HP:0000512	Abnormal electroretinogram
OMIM:609923	ARL2BP	23568	HP:0001123	Visual field defect
OMIM:609923	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:609923	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	ARL2BP	23568	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:609923	NR2E3	10002	HP:0000512	Abnormal electroretinogram
OMIM:609923	NR2E3	10002	HP:0001123	Visual field defect
OMIM:609923	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:609923	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	NR2E3	10002	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:609923	EYS	346007	HP:0000512	Abnormal electroretinogram
OMIM:609923	EYS	346007	HP:0001123	Visual field defect
OMIM:609923	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:609923	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	EYS	346007	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:609923	MAK	4117	HP:0000512	Abnormal electroretinogram
OMIM:609923	MAK	4117	HP:0001123	Visual field defect
OMIM:609923	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:609923	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	MAK	4117	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:609923	SAG	6295	HP:0000512	Abnormal electroretinogram
OMIM:609923	SAG	6295	HP:0001123	Visual field defect
OMIM:609923	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:609923	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	SAG	6295	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:609923	ABCA4	24	HP:0000512	Abnormal electroretinogram
OMIM:609923	ABCA4	24	HP:0001123	Visual field defect
OMIM:609923	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:609923	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	ABCA4	24	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:609923	PDE6A	5145	HP:0000512	Abnormal electroretinogram
OMIM:609923	PDE6A	5145	HP:0001123	Visual field defect
OMIM:609923	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:609923	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	PDE6A	5145	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:609923	PDE6G	5148	HP:0000512	Abnormal electroretinogram
OMIM:609923	PDE6G	5148	HP:0001123	Visual field defect
OMIM:609923	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:609923	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	PDE6G	5148	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:609923	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
OMIM:609923	IMPDH1	3614	HP:0001123	Visual field defect
OMIM:609923	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:609923	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	IMPDH1	3614	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:609923	OFD1	8481	HP:0000512	Abnormal electroretinogram
OMIM:609923	OFD1	8481	HP:0001123	Visual field defect
OMIM:609923	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:609923	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	OFD1	8481	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:609923	GUCA1B	2979	HP:0000512	Abnormal electroretinogram
OMIM:609923	GUCA1B	2979	HP:0001123	Visual field defect
OMIM:609923	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:609923	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	GUCA1B	2979	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:609923	NRL	4901	HP:0000512	Abnormal electroretinogram
OMIM:609923	NRL	4901	HP:0001123	Visual field defect
OMIM:609923	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:609923	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	NRL	4901	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:609923	PDE6B	5158	HP:0000512	Abnormal electroretinogram
OMIM:609923	PDE6B	5158	HP:0001123	Visual field defect
OMIM:609923	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:609923	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	PDE6B	5158	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:609923	KLHL7	55975	HP:0000512	Abnormal electroretinogram
OMIM:609923	KLHL7	55975	HP:0001123	Visual field defect
OMIM:609923	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:609923	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	KLHL7	55975	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:609923	PRPF4	9128	HP:0000512	Abnormal electroretinogram
OMIM:609923	PRPF4	9128	HP:0001123	Visual field defect
OMIM:609923	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:609923	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	PRPF4	9128	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:609923	PRPF3	9129	HP:0000512	Abnormal electroretinogram
OMIM:609923	PRPF3	9129	HP:0001123	Visual field defect
OMIM:609923	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:609923	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	PRPF3	9129	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:609923	FAM161A	84140	HP:0000512	Abnormal electroretinogram
OMIM:609923	FAM161A	84140	HP:0001123	Visual field defect
OMIM:609923	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:609923	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	FAM161A	84140	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:609923	IFT172	26160	HP:0000512	Abnormal electroretinogram
OMIM:609923	IFT172	26160	HP:0001123	Visual field defect
OMIM:609923	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:609923	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	IFT172	26160	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:609923	KIZ	55857	HP:0000512	Abnormal electroretinogram
OMIM:609923	KIZ	55857	HP:0001123	Visual field defect
OMIM:609923	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:609923	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	KIZ	55857	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:609923	CDHR1	92211	HP:0000512	Abnormal electroretinogram
OMIM:609923	CDHR1	92211	HP:0001123	Visual field defect
OMIM:609923	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:609923	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	CDHR1	92211	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:609923	ZNF408	79797	HP:0000512	Abnormal electroretinogram
OMIM:609923	ZNF408	79797	HP:0001123	Visual field defect
OMIM:609923	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:609923	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	ZNF408	79797	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:609923	RBP3	5949	HP:0000512	Abnormal electroretinogram
OMIM:609923	RBP3	5949	HP:0001123	Visual field defect
OMIM:609923	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:609923	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	RBP3	5949	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:609923	HGSNAT	138050	HP:0000512	Abnormal electroretinogram
OMIM:609923	HGSNAT	138050	HP:0001123	Visual field defect
OMIM:609923	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:609923	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	HGSNAT	138050	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:609923	FSCN2	25794	HP:0000512	Abnormal electroretinogram
OMIM:609923	FSCN2	25794	HP:0001123	Visual field defect
OMIM:609923	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:609923	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	FSCN2	25794	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:609923	PRCD	768206	HP:0000512	Abnormal electroretinogram
OMIM:609923	PRCD	768206	HP:0001123	Visual field defect
OMIM:609923	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:609923	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	PRCD	768206	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:609923	BBS2	583	HP:0000512	Abnormal electroretinogram
OMIM:609923	BBS2	583	HP:0001123	Visual field defect
OMIM:609923	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:609923	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	BBS2	583	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:609923	RDH12	145226	HP:0000512	Abnormal electroretinogram
OMIM:609923	RDH12	145226	HP:0001123	Visual field defect
OMIM:609923	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:609923	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	RDH12	145226	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:609923	PRPH2	5961	HP:0000512	Abnormal electroretinogram
OMIM:609923	PRPH2	5961	HP:0001123	Visual field defect
OMIM:609923	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:609923	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	PRPH2	5961	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:609923	DHDDS	79947	HP:0000512	Abnormal electroretinogram
OMIM:609923	DHDDS	79947	HP:0001123	Visual field defect
OMIM:609923	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:609923	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	DHDDS	79947	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:609923	ROM1	6094	HP:0000512	Abnormal electroretinogram
OMIM:609923	ROM1	6094	HP:0001123	Visual field defect
OMIM:609923	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:609923	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	ROM1	6094	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:609923	C2ORF71	388939	HP:0000512	Abnormal electroretinogram
OMIM:609923	C2ORF71	388939	HP:0001123	Visual field defect
OMIM:609923	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:609923	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	C2ORF71	388939	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:609923	RP9	6100	HP:0000512	Abnormal electroretinogram
OMIM:609923	RP9	6100	HP:0001123	Visual field defect
OMIM:609923	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:609923	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	RP9	6100	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:609923	PRPF6	24148	HP:0000512	Abnormal electroretinogram
OMIM:609923	PRPF6	24148	HP:0001123	Visual field defect
OMIM:609923	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:609923	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	PRPF6	24148	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:609923	RP1	6101	HP:0000512	Abnormal electroretinogram
OMIM:609923	RP1	6101	HP:0001123	Visual field defect
OMIM:609923	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:609923	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	RP1	6101	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:609923	RP2	6102	HP:0000512	Abnormal electroretinogram
OMIM:609923	RP2	6102	HP:0001123	Visual field defect
OMIM:609923	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:609923	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	RP2	6102	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:609923	RPGR	6103	HP:0000512	Abnormal electroretinogram
OMIM:609923	RPGR	6103	HP:0001123	Visual field defect
OMIM:609923	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:609923	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	RPGR	6103	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:609923	SEMA4A	64218	HP:0000512	Abnormal electroretinogram
OMIM:609923	SEMA4A	64218	HP:0001123	Visual field defect
OMIM:609923	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:609923	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	SEMA4A	64218	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:609923	C8ORF37	157657	HP:0000512	Abnormal electroretinogram
OMIM:609923	C8ORF37	157657	HP:0001123	Visual field defect
OMIM:609923	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:609923	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	C8ORF37	157657	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:609923	IDH3B	3420	HP:0000512	Abnormal electroretinogram
OMIM:609923	IDH3B	3420	HP:0001123	Visual field defect
OMIM:609923	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:609923	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	IDH3B	3420	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:609923	MERTK	10461	HP:0000512	Abnormal electroretinogram
OMIM:609923	MERTK	10461	HP:0001123	Visual field defect
OMIM:609923	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:609923	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	MERTK	10461	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:609923	TOPORS	10210	HP:0000512	Abnormal electroretinogram
OMIM:609923	TOPORS	10210	HP:0001123	Visual field defect
OMIM:609923	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:609923	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	TOPORS	10210	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:609923	PRPF8	10594	HP:0000512	Abnormal electroretinogram
OMIM:609923	PRPF8	10594	HP:0001123	Visual field defect
OMIM:609923	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:609923	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	PRPF8	10594	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:609923	USH2A	7399	HP:0000512	Abnormal electroretinogram
OMIM:609923	USH2A	7399	HP:0001123	Visual field defect
OMIM:609923	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:609923	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	USH2A	7399	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:609923	RPE65	6121	HP:0000512	Abnormal electroretinogram
OMIM:609923	RPE65	6121	HP:0001123	Visual field defect
OMIM:609923	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:609923	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	RPE65	6121	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:609923	CLRN1	7401	HP:0000512	Abnormal electroretinogram
OMIM:609923	CLRN1	7401	HP:0001123	Visual field defect
OMIM:609923	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:609923	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	CLRN1	7401	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:609923	CNGB1	1258	HP:0000512	Abnormal electroretinogram
OMIM:609923	CNGB1	1258	HP:0001123	Visual field defect
OMIM:609923	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:609923	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	CNGB1	1258	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:609923	RGR	5995	HP:0000512	Abnormal electroretinogram
OMIM:609923	RGR	5995	HP:0001123	Visual field defect
OMIM:609923	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:609923	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	RGR	5995	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:609923	CNGA1	1259	HP:0000512	Abnormal electroretinogram
OMIM:609923	CNGA1	1259	HP:0001123	Visual field defect
OMIM:609923	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:609923	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	CNGA1	1259	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:609923	TUB	7275	HP:0000512	Abnormal electroretinogram
OMIM:609923	TUB	7275	HP:0001123	Visual field defect
OMIM:609923	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:609923	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	TUB	7275	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:609923	SNRNP200	23020	HP:0000512	Abnormal electroretinogram
OMIM:609923	SNRNP200	23020	HP:0001123	Visual field defect
OMIM:609923	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:609923	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	SNRNP200	23020	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:609923	SLC7A14	57709	HP:0000512	Abnormal electroretinogram
OMIM:609923	SLC7A14	57709	HP:0001123	Visual field defect
OMIM:609923	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:609923	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	SLC7A14	57709	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:609923	TULP1	7287	HP:0000512	Abnormal electroretinogram
OMIM:609923	TULP1	7287	HP:0001123	Visual field defect
OMIM:609923	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:609923	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	TULP1	7287	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:609923	RHO	6010	HP:0000512	Abnormal electroretinogram
OMIM:609923	RHO	6010	HP:0001123	Visual field defect
OMIM:609923	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:609923	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	RHO	6010	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:609923	CA4	762	HP:0000512	Abnormal electroretinogram
OMIM:609923	CA4	762	HP:0001123	Visual field defect
OMIM:609923	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:609923	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	CA4	762	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:609923	CRB1	23418	HP:0000512	Abnormal electroretinogram
OMIM:609923	CRB1	23418	HP:0001123	Visual field defect
OMIM:609923	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:609923	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	CRB1	23418	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:609923	IMPG2	50939	HP:0000512	Abnormal electroretinogram
OMIM:609923	IMPG2	50939	HP:0001123	Visual field defect
OMIM:609923	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:609923	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	IMPG2	50939	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:609923	ZNF513	130557	HP:0000512	Abnormal electroretinogram
OMIM:609923	ZNF513	130557	HP:0001123	Visual field defect
OMIM:609923	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:609923	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	ZNF513	130557	HP:0007722	Retinal pigment epithelial atrophy
OMIM:609923	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:609923	CRX	1406	HP:0000512	Abnormal electroretinogram
OMIM:609923	CRX	1406	HP:0001123	Visual field defect
OMIM:609923	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:609923	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:609923	CRX	1406	HP:0007722	Retinal pigment epithelial atrophy
OMIM:616079	ITM2B	9445	HP:0000556	Retinal dystrophy
OMIM:616079	ITM2B	9445	HP:0000662	Nyctalopia
OMIM:616079	ITM2B	9445	HP:0000543	Optic disc pallor
OMIM:616079	ITM2B	9445	HP:0000613	Photophobia
OMIM:610370	NEUROG3	50674	HP:0001944	Dehydration
OMIM:610370	NEUROG3	50674	HP:0001508	Failure to thrive
OMIM:610370	NEUROG3	50674	HP:0002014	Diarrhea
OMIM:610370	NEUROG3	50674	HP:0000007	Autosomal recessive inheritance
OMIM:610370	NEUROG3	50674	HP:0002013	Vomiting
OMIM:610370	NEUROG3	50674	HP:0003623	Neonatal onset
OMIM:300803	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300803	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300803	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300803	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300803	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300803	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300803	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300803	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300803	SYP	6855	HP:0001249	Intellectual disability
OMIM:300803	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300803	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300803	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300803	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300803	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300803	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300803	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300803	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300803	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300803	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300803	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300803	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300803	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300803	DMD	1756	HP:0001249	Intellectual disability
OMIM:300803	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300803	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300803	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300803	MID2	11043	HP:0001249	Intellectual disability
OMIM:300803	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300803	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300803	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300803	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300803	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300803	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300803	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300803	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300803	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300803	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300803	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300803	MED12	9968	HP:0001249	Intellectual disability
OMIM:300803	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300803	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300803	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300803	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300803	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300803	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300803	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300803	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300803	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300803	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300803	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300803	ARX	170302	HP:0001249	Intellectual disability
OMIM:300803	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300803	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300803	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300803	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300803	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:600977	AIPL1	23746	HP:0000613	Photophobia
OMIM:600977	AIPL1	23746	HP:0000608	Macular degeneration
OMIM:600977	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:600977	AIPL1	23746	HP:0000006	Autosomal dominant inheritance
OMIM:600977	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	AIPL1	23746	HP:0000551	Abnormality of color vision
OMIM:600977	PITPNM3	83394	HP:0000613	Photophobia
OMIM:600977	PITPNM3	83394	HP:0000608	Macular degeneration
OMIM:600977	PITPNM3	83394	HP:0007663	Reduced visual acuity
OMIM:600977	PITPNM3	83394	HP:0000006	Autosomal dominant inheritance
OMIM:600977	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	PITPNM3	83394	HP:0000551	Abnormality of color vision
OMIM:600977	OPN1LW	5956	HP:0000613	Photophobia
OMIM:600977	OPN1LW	5956	HP:0000608	Macular degeneration
OMIM:600977	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:600977	OPN1LW	5956	HP:0000006	Autosomal dominant inheritance
OMIM:600977	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	OPN1LW	5956	HP:0000551	Abnormality of color vision
OMIM:600977	UNC119	9094	HP:0000613	Photophobia
OMIM:600977	UNC119	9094	HP:0000608	Macular degeneration
OMIM:600977	UNC119	9094	HP:0007663	Reduced visual acuity
OMIM:600977	UNC119	9094	HP:0000006	Autosomal dominant inheritance
OMIM:600977	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	UNC119	9094	HP:0000551	Abnormality of color vision
OMIM:600977	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:600977	RPGRIP1	57096	HP:0000608	Macular degeneration
OMIM:600977	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:600977	RPGRIP1	57096	HP:0000006	Autosomal dominant inheritance
OMIM:600977	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	RPGRIP1	57096	HP:0000551	Abnormality of color vision
OMIM:600977	PRPH2	5961	HP:0000613	Photophobia
OMIM:600977	PRPH2	5961	HP:0000608	Macular degeneration
OMIM:600977	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:600977	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:600977	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	PRPH2	5961	HP:0000551	Abnormality of color vision
OMIM:600977	CACNA1F	778	HP:0000613	Photophobia
OMIM:600977	CACNA1F	778	HP:0000608	Macular degeneration
OMIM:600977	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:600977	CACNA1F	778	HP:0000006	Autosomal dominant inheritance
OMIM:600977	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	CACNA1F	778	HP:0000551	Abnormality of color vision
OMIM:600977	PROM1	8842	HP:0000613	Photophobia
OMIM:600977	PROM1	8842	HP:0000608	Macular degeneration
OMIM:600977	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:600977	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:600977	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	PROM1	8842	HP:0000551	Abnormality of color vision
OMIM:600977	DRAM2	128338	HP:0000613	Photophobia
OMIM:600977	DRAM2	128338	HP:0000608	Macular degeneration
OMIM:600977	DRAM2	128338	HP:0007663	Reduced visual acuity
OMIM:600977	DRAM2	128338	HP:0000006	Autosomal dominant inheritance
OMIM:600977	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	DRAM2	128338	HP:0000551	Abnormality of color vision
OMIM:600977	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:600977	CACNA2D4	93589	HP:0000608	Macular degeneration
OMIM:600977	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:600977	CACNA2D4	93589	HP:0000006	Autosomal dominant inheritance
OMIM:600977	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	CACNA2D4	93589	HP:0000551	Abnormality of color vision
OMIM:600977	RAB28	9364	HP:0000613	Photophobia
OMIM:600977	RAB28	9364	HP:0000608	Macular degeneration
OMIM:600977	RAB28	9364	HP:0007663	Reduced visual acuity
OMIM:600977	RAB28	9364	HP:0000006	Autosomal dominant inheritance
OMIM:600977	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	RAB28	9364	HP:0000551	Abnormality of color vision
OMIM:600977	RIMS1	22999	HP:0000613	Photophobia
OMIM:600977	RIMS1	22999	HP:0000608	Macular degeneration
OMIM:600977	RIMS1	22999	HP:0007663	Reduced visual acuity
OMIM:600977	RIMS1	22999	HP:0000006	Autosomal dominant inheritance
OMIM:600977	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	RIMS1	22999	HP:0000551	Abnormality of color vision
OMIM:600977	RPGR	6103	HP:0000613	Photophobia
OMIM:600977	RPGR	6103	HP:0000608	Macular degeneration
OMIM:600977	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:600977	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:600977	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	RPGR	6103	HP:0000551	Abnormality of color vision
OMIM:600977	ABCA4	24	HP:0000613	Photophobia
OMIM:600977	ABCA4	24	HP:0000608	Macular degeneration
OMIM:600977	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:600977	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:600977	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	ABCA4	24	HP:0000551	Abnormality of color vision
OMIM:600977	SEMA4A	64218	HP:0000613	Photophobia
OMIM:600977	SEMA4A	64218	HP:0000608	Macular degeneration
OMIM:600977	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:600977	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:600977	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	SEMA4A	64218	HP:0000551	Abnormality of color vision
OMIM:600977	C8ORF37	157657	HP:0000613	Photophobia
OMIM:600977	C8ORF37	157657	HP:0000608	Macular degeneration
OMIM:600977	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:600977	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:600977	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	C8ORF37	157657	HP:0000551	Abnormality of color vision
OMIM:600977	OPN1MW	2652	HP:0000613	Photophobia
OMIM:600977	OPN1MW	2652	HP:0000608	Macular degeneration
OMIM:600977	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:600977	OPN1MW	2652	HP:0000006	Autosomal dominant inheritance
OMIM:600977	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	OPN1MW	2652	HP:0000551	Abnormality of color vision
OMIM:600977	GUCA1A	2978	HP:0000613	Photophobia
OMIM:600977	GUCA1A	2978	HP:0000608	Macular degeneration
OMIM:600977	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:600977	GUCA1A	2978	HP:0000006	Autosomal dominant inheritance
OMIM:600977	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	GUCA1A	2978	HP:0000551	Abnormality of color vision
OMIM:600977	RAX2	84839	HP:0000613	Photophobia
OMIM:600977	RAX2	84839	HP:0000608	Macular degeneration
OMIM:600977	RAX2	84839	HP:0007663	Reduced visual acuity
OMIM:600977	RAX2	84839	HP:0000006	Autosomal dominant inheritance
OMIM:600977	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	RAX2	84839	HP:0000551	Abnormality of color vision
OMIM:600977	CNGA3	1261	HP:0000613	Photophobia
OMIM:600977	CNGA3	1261	HP:0000608	Macular degeneration
OMIM:600977	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:600977	CNGA3	1261	HP:0000006	Autosomal dominant inheritance
OMIM:600977	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	CNGA3	1261	HP:0000551	Abnormality of color vision
OMIM:600977	ADAM9	8754	HP:0000613	Photophobia
OMIM:600977	ADAM9	8754	HP:0000608	Macular degeneration
OMIM:600977	ADAM9	8754	HP:0007663	Reduced visual acuity
OMIM:600977	ADAM9	8754	HP:0000006	Autosomal dominant inheritance
OMIM:600977	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	ADAM9	8754	HP:0000551	Abnormality of color vision
OMIM:600977	CDHR1	92211	HP:0000613	Photophobia
OMIM:600977	CDHR1	92211	HP:0000608	Macular degeneration
OMIM:600977	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:600977	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:600977	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	CDHR1	92211	HP:0000551	Abnormality of color vision
OMIM:600977	TTLL5	23093	HP:0000613	Photophobia
OMIM:600977	TTLL5	23093	HP:0000608	Macular degeneration
OMIM:600977	TTLL5	23093	HP:0007663	Reduced visual acuity
OMIM:600977	TTLL5	23093	HP:0000006	Autosomal dominant inheritance
OMIM:600977	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	TTLL5	23093	HP:0000551	Abnormality of color vision
OMIM:600977	GUCY2D	3000	HP:0000613	Photophobia
OMIM:600977	GUCY2D	3000	HP:0000608	Macular degeneration
OMIM:600977	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:600977	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:600977	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	GUCY2D	3000	HP:0000551	Abnormality of color vision
OMIM:600977	POC1B	282809	HP:0000613	Photophobia
OMIM:600977	POC1B	282809	HP:0000608	Macular degeneration
OMIM:600977	POC1B	282809	HP:0007663	Reduced visual acuity
OMIM:600977	POC1B	282809	HP:0000006	Autosomal dominant inheritance
OMIM:600977	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	POC1B	282809	HP:0000551	Abnormality of color vision
OMIM:600977	CRX	1406	HP:0000613	Photophobia
OMIM:600977	CRX	1406	HP:0000608	Macular degeneration
OMIM:600977	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:600977	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:600977	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:600977	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:608629	CEP41	95681	HP:0000431	Wide nasal bridge
OMIM:608629	CEP41	95681	HP:0000508	Ptosis
OMIM:608629	CEP41	95681	HP:0002871	Central apnea
OMIM:608629	CEP41	95681	HP:0000580	Pigmentary retinopathy
OMIM:608629	CEP41	95681	HP:0000007	Autosomal recessive inheritance
OMIM:608629	CEP41	95681	HP:0000556	Retinal dystrophy
OMIM:608629	CEP41	95681	HP:0000505	Visual impairment
OMIM:608629	CEP41	95681	HP:0000657	Oculomotor apraxia
OMIM:608629	CEP41	95681	HP:0001252	Muscular hypotonia
OMIM:608629	CEP41	95681	HP:0003774	Stage 5 chronic kidney disease
OMIM:608629	CEP41	95681	HP:0002419	Molar tooth sign on MRI
OMIM:608629	CEP41	95681	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608629	CEP41	95681	HP:0000463	Anteverted nares
OMIM:608629	CEP41	95681	HP:0001320	Cerebellar vermis hypoplasia
OMIM:608629	CEP41	95681	HP:0001270	Motor delay
OMIM:608629	CEP41	95681	HP:0000369	Low-set ears
OMIM:608629	CEP41	95681	HP:0000090	Nephronophthisis
OMIM:608629	CEP41	95681	HP:0001425	Heterogeneous
OMIM:608629	CEP41	95681	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608629	CEP41	95681	HP:0000194	Open mouth
OMIM:608629	CEP41	95681	HP:0000286	Epicanthus
OMIM:608629	CEP41	95681	HP:0000512	Abnormal electroretinogram
OMIM:608629	CEP41	95681	HP:0001251	Ataxia
OMIM:608629	CEP41	95681	HP:0002876	Episodic tachypnea
OMIM:608629	CEP41	95681	HP:0000639	Nystagmus
OMIM:608629	CEP41	95681	HP:0002553	Highly arched eyebrow
OMIM:608629	CEP41	95681	HP:0002790	Neonatal breathing dysregulation
OMIM:608629	CEP41	95681	HP:0001249	Intellectual disability
OMIM:608629	AHI1	54806	HP:0000431	Wide nasal bridge
OMIM:608629	AHI1	54806	HP:0000508	Ptosis
OMIM:608629	AHI1	54806	HP:0002871	Central apnea
OMIM:608629	AHI1	54806	HP:0000580	Pigmentary retinopathy
OMIM:608629	AHI1	54806	HP:0000007	Autosomal recessive inheritance
OMIM:608629	AHI1	54806	HP:0000556	Retinal dystrophy
OMIM:608629	AHI1	54806	HP:0000505	Visual impairment
OMIM:608629	AHI1	54806	HP:0000657	Oculomotor apraxia
OMIM:608629	AHI1	54806	HP:0001252	Muscular hypotonia
OMIM:608629	AHI1	54806	HP:0003774	Stage 5 chronic kidney disease
OMIM:608629	AHI1	54806	HP:0002419	Molar tooth sign on MRI
OMIM:608629	AHI1	54806	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608629	AHI1	54806	HP:0000463	Anteverted nares
OMIM:608629	AHI1	54806	HP:0001320	Cerebellar vermis hypoplasia
OMIM:608629	AHI1	54806	HP:0001270	Motor delay
OMIM:608629	AHI1	54806	HP:0000369	Low-set ears
OMIM:608629	AHI1	54806	HP:0000090	Nephronophthisis
OMIM:608629	AHI1	54806	HP:0001425	Heterogeneous
OMIM:608629	AHI1	54806	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608629	AHI1	54806	HP:0000194	Open mouth
OMIM:608629	AHI1	54806	HP:0000286	Epicanthus
OMIM:608629	AHI1	54806	HP:0000512	Abnormal electroretinogram
OMIM:608629	AHI1	54806	HP:0001251	Ataxia
OMIM:608629	AHI1	54806	HP:0002876	Episodic tachypnea
OMIM:608629	AHI1	54806	HP:0000639	Nystagmus
OMIM:608629	AHI1	54806	HP:0002553	Highly arched eyebrow
OMIM:608629	AHI1	54806	HP:0002790	Neonatal breathing dysregulation
OMIM:608629	AHI1	54806	HP:0001249	Intellectual disability
OMIM:608629	MKS1	54903	HP:0000431	Wide nasal bridge
OMIM:608629	MKS1	54903	HP:0000508	Ptosis
OMIM:608629	MKS1	54903	HP:0002871	Central apnea
OMIM:608629	MKS1	54903	HP:0000580	Pigmentary retinopathy
OMIM:608629	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:608629	MKS1	54903	HP:0000556	Retinal dystrophy
OMIM:608629	MKS1	54903	HP:0000505	Visual impairment
OMIM:608629	MKS1	54903	HP:0000657	Oculomotor apraxia
OMIM:608629	MKS1	54903	HP:0001252	Muscular hypotonia
OMIM:608629	MKS1	54903	HP:0003774	Stage 5 chronic kidney disease
OMIM:608629	MKS1	54903	HP:0002419	Molar tooth sign on MRI
OMIM:608629	MKS1	54903	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608629	MKS1	54903	HP:0000463	Anteverted nares
OMIM:608629	MKS1	54903	HP:0001320	Cerebellar vermis hypoplasia
OMIM:608629	MKS1	54903	HP:0001270	Motor delay
OMIM:608629	MKS1	54903	HP:0000369	Low-set ears
OMIM:608629	MKS1	54903	HP:0000090	Nephronophthisis
OMIM:608629	MKS1	54903	HP:0001425	Heterogeneous
OMIM:608629	MKS1	54903	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608629	MKS1	54903	HP:0000194	Open mouth
OMIM:608629	MKS1	54903	HP:0000286	Epicanthus
OMIM:608629	MKS1	54903	HP:0000512	Abnormal electroretinogram
OMIM:608629	MKS1	54903	HP:0001251	Ataxia
OMIM:608629	MKS1	54903	HP:0002876	Episodic tachypnea
OMIM:608629	MKS1	54903	HP:0000639	Nystagmus
OMIM:608629	MKS1	54903	HP:0002553	Highly arched eyebrow
OMIM:608629	MKS1	54903	HP:0002790	Neonatal breathing dysregulation
OMIM:608629	MKS1	54903	HP:0001249	Intellectual disability
OMIM:608629	INPP5E	56623	HP:0000431	Wide nasal bridge
OMIM:608629	INPP5E	56623	HP:0000508	Ptosis
OMIM:608629	INPP5E	56623	HP:0002871	Central apnea
OMIM:608629	INPP5E	56623	HP:0000580	Pigmentary retinopathy
OMIM:608629	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:608629	INPP5E	56623	HP:0000556	Retinal dystrophy
OMIM:608629	INPP5E	56623	HP:0000505	Visual impairment
OMIM:608629	INPP5E	56623	HP:0000657	Oculomotor apraxia
OMIM:608629	INPP5E	56623	HP:0001252	Muscular hypotonia
OMIM:608629	INPP5E	56623	HP:0003774	Stage 5 chronic kidney disease
OMIM:608629	INPP5E	56623	HP:0002419	Molar tooth sign on MRI
OMIM:608629	INPP5E	56623	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608629	INPP5E	56623	HP:0000463	Anteverted nares
OMIM:608629	INPP5E	56623	HP:0001320	Cerebellar vermis hypoplasia
OMIM:608629	INPP5E	56623	HP:0001270	Motor delay
OMIM:608629	INPP5E	56623	HP:0000369	Low-set ears
OMIM:608629	INPP5E	56623	HP:0000090	Nephronophthisis
OMIM:608629	INPP5E	56623	HP:0001425	Heterogeneous
OMIM:608629	INPP5E	56623	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608629	INPP5E	56623	HP:0000194	Open mouth
OMIM:608629	INPP5E	56623	HP:0000286	Epicanthus
OMIM:608629	INPP5E	56623	HP:0000512	Abnormal electroretinogram
OMIM:608629	INPP5E	56623	HP:0001251	Ataxia
OMIM:608629	INPP5E	56623	HP:0002876	Episodic tachypnea
OMIM:608629	INPP5E	56623	HP:0000639	Nystagmus
OMIM:608629	INPP5E	56623	HP:0002553	Highly arched eyebrow
OMIM:608629	INPP5E	56623	HP:0002790	Neonatal breathing dysregulation
OMIM:608629	INPP5E	56623	HP:0001249	Intellectual disability
OMIM:615583	PUF60	22827	HP:0009237	Short 5th finger
OMIM:615583	PUF60	22827	HP:0001263	Global developmental delay
OMIM:615583	PUF60	22827	HP:0002650	Scoliosis
OMIM:615583	PUF60	22827	HP:0000107	Renal cyst
OMIM:615583	PUF60	22827	HP:0000470	Short neck
OMIM:615583	PUF60	22827	HP:0001671	Abnormality of the cardiac septa
OMIM:615583	PUF60	22827	HP:0002059	Cerebral atrophy
OMIM:615583	PUF60	22827	HP:0002827	Hip dislocation
OMIM:615583	PUF60	22827	HP:0002937	Hemivertebrae
OMIM:615583	PUF60	22827	HP:0000219	Thin upper lip vermilion
OMIM:615583	PUF60	22827	HP:0003196	Short nose
OMIM:615583	PUF60	22827	HP:0000431	Wide nasal bridge
OMIM:615583	PUF60	22827	HP:0000589	Coloboma
OMIM:615583	PUF60	22827	HP:0000006	Autosomal dominant inheritance
OMIM:615583	PUF60	22827	HP:0003577	Congenital onset
OMIM:615583	PUF60	22827	HP:0003812	Phenotypic variability
OMIM:615583	PUF60	22827	HP:0000089	Renal hypoplasia
OMIM:615583	PUF60	22827	HP:0000343	Long philtrum
OMIM:615583	PUF60	22827	HP:0030084	Clinodactyly
OMIM:615583	PUF60	22827	HP:0002948	Vertebral fusion
OMIM:615583	PUF60	22827	HP:0000104	Renal agenesis
OMIM:615583	PUF60	22827	HP:0004322	Short stature
OMIM:615583	PUF60	22827	HP:0000252	Microcephaly
OMIM:615583	PUF60	22827	HP:0000341	Narrow forehead
OMIM:615583	PUF60	22827	HP:0011968	Feeding difficulties
OMIM:609939	ITGAM	3684	HP:0002725	Systemic lupus erythematosus
OMIM:609939	ITGAM	3684	HP:0010982	Polygenic inheritance
ORPHANET:33226	MYD88	4615	HP:0002354	Memory impairment
ORPHANET:33226	MYD88	4615	HP:0002633	Vasculitis
ORPHANET:33226	MYD88	4615	HP:0002113	Pulmonary infiltrates
ORPHANET:33226	MYD88	4615	HP:0001874	Abnormality of neutrophils
ORPHANET:33226	MYD88	4615	HP:0006824	Cranial nerve paralysis
ORPHANET:33226	MYD88	4615	HP:0004370	Abnormality of temperature regulation
ORPHANET:33226	MYD88	4615	HP:0002024	Malabsorption
ORPHANET:33226	MYD88	4615	HP:0009830	Peripheral neuropathy
ORPHANET:33226	MYD88	4615	HP:0002240	Hepatomegaly
ORPHANET:33226	MYD88	4615	HP:0002093	Respiratory insufficiency
ORPHANET:33226	MYD88	4615	HP:0000365	Hearing impairment
ORPHANET:33226	MYD88	4615	HP:0002039	Anorexia
ORPHANET:33226	MYD88	4615	HP:0002076	Migraine
ORPHANET:33226	MYD88	4615	HP:0001933	Subcutaneous hemorrhage
ORPHANET:33226	MYD88	4615	HP:0002321	Vertigo
ORPHANET:33226	MYD88	4615	HP:0010701	Abnormal immunoglobulin level
ORPHANET:33226	MYD88	4615	HP:0001744	Splenomegaly
ORPHANET:33226	MYD88	4615	HP:0100539	Periorbital edema
ORPHANET:33226	MYD88	4615	HP:0002311	Incoordination
ORPHANET:33226	MYD88	4615	HP:0002716	Lymphadenopathy
ORPHANET:33226	MYD88	4615	HP:0001025	Urticaria
ORPHANET:33226	MYD88	4615	HP:0000965	Cutis marmorata
ORPHANET:33226	MYD88	4615	HP:0000083	Renal insufficiency
ORPHANET:33226	MYD88	4615	HP:0001909	Leukemia
ORPHANET:33226	MYD88	4615	HP:0004372	Reduced consciousness/confusion
ORPHANET:33226	MYD88	4615	HP:0000421	Epistaxis
ORPHANET:33226	MYD88	4615	HP:0000980	Pallor
ORPHANET:33226	MYD88	4615	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:33226	MYD88	4615	HP:0000225	Gingival bleeding
ORPHANET:33226	MYD88	4615	HP:0000520	Proptosis
ORPHANET:33226	MYD88	4615	HP:0001635	Congestive heart failure
ORPHANET:33226	MYD88	4615	HP:0002637	Cerebral ischemia
ORPHANET:33226	MYD88	4615	HP:0008046	Abnormality of the retinal vasculature
OMIM:615284	SBF1	6305	HP:0012444	Brain atrophy
OMIM:615284	SBF1	6305	HP:0000602	Ophthalmoplegia
OMIM:615284	SBF1	6305	HP:0003383	Onion bulb formation
OMIM:615284	SBF1	6305	HP:0000020	Urinary incontinence
OMIM:615284	SBF1	6305	HP:0000486	Strabismus
OMIM:615284	SBF1	6305	HP:0001284	Areflexia
OMIM:615284	SBF1	6305	HP:0001288	Gait disturbance
OMIM:615284	SBF1	6305	HP:0000007	Autosomal recessive inheritance
OMIM:615284	SBF1	6305	HP:0002936	Distal sensory impairment
OMIM:615284	SBF1	6305	HP:0001763	Pes planus
OMIM:615284	SBF1	6305	HP:0001159	Syndactyly
OMIM:615284	SBF1	6305	HP:0000252	Microcephaly
OMIM:615284	SBF1	6305	HP:0002650	Scoliosis
OMIM:615284	SBF1	6305	HP:0003676	Progressive
OMIM:615284	SBF1	6305	HP:0001249	Intellectual disability
OMIM:121800	UBIAD1	29914	HP:0001131	Corneal dystrophy
OMIM:121800	UBIAD1	29914	HP:0000006	Autosomal dominant inheritance
OMIM:611228	FIG4	9896	HP:0000007	Autosomal recessive inheritance
OMIM:611228	FIG4	9896	HP:0006466	Ankle contracture
OMIM:611228	FIG4	9896	HP:0001270	Motor delay
OMIM:611228	FIG4	9896	HP:0007182	Peripheral hypomyelination
OMIM:611228	FIG4	9896	HP:0002359	Frequent falls
OMIM:611228	FIG4	9896	HP:0002460	Distal muscle weakness
OMIM:611228	FIG4	9896	HP:0000762	Decreased nerve conduction velocity
OMIM:611228	FIG4	9896	HP:0002936	Distal sensory impairment
OMIM:611228	FIG4	9896	HP:0001288	Gait disturbance
OMIM:611228	FIG4	9896	HP:0003383	Onion bulb formation
OMIM:611228	FIG4	9896	HP:0001284	Areflexia
OMIM:611228	FIG4	9896	HP:0001265	Hyporeflexia
OMIM:615286	ADAT3	113179	HP:0001249	Intellectual disability
OMIM:615286	ADAT3	113179	HP:0001508	Failure to thrive
OMIM:615286	ADAT3	113179	HP:0003593	Infantile onset
OMIM:615286	ADAT3	113179	HP:0000252	Microcephaly
OMIM:615286	ADAT3	113179	HP:0000565	Esotropia
OMIM:615286	ADAT3	113179	HP:0000007	Autosomal recessive inheritance
OMIM:615286	ADAT3	113179	HP:0001252	Muscular hypotonia
OMIM:117550	SETD2	29072	HP:0001631	Atria septal defect
OMIM:117550	SETD2	29072	HP:0002007	Frontal bossing
OMIM:117550	SETD2	29072	HP:0000307	Pointed chin
OMIM:117550	SETD2	29072	HP:0001629	Ventricular septal defect
OMIM:117550	SETD2	29072	HP:0000268	Dolichocephaly
OMIM:117550	SETD2	29072	HP:0000540	Hypermetropia
OMIM:117550	SETD2	29072	HP:0002353	EEG abnormality
OMIM:117550	SETD2	29072	HP:0000256	Macrocephaly
OMIM:117550	SETD2	29072	HP:0002370	Poor coordination
OMIM:117550	SETD2	29072	HP:0002857	Genu valgum
OMIM:117550	SETD2	29072	HP:0005616	Accelerated skeletal maturation
OMIM:117550	SETD2	29072	HP:0001263	Global developmental delay
OMIM:117550	SETD2	29072	HP:0006288	Advanced eruption of teeth
OMIM:117550	SETD2	29072	HP:0000028	Cryptorchidism
OMIM:117550	SETD2	29072	HP:0001388	Joint laxity
OMIM:117550	SETD2	29072	HP:0000400	Macrotia
OMIM:117550	SETD2	29072	HP:0000708	Behavioral abnormality
OMIM:117550	SETD2	29072	HP:0000316	Hypertelorism
OMIM:117550	SETD2	29072	HP:0001231	Abnormality of the fingernails
OMIM:117550	SETD2	29072	HP:0001250	Seizures
OMIM:117550	SETD2	29072	HP:0001833	Long foot
OMIM:117550	SETD2	29072	HP:0000486	Strabismus
OMIM:117550	SETD2	29072	HP:0002970	Genu varum
OMIM:117550	SETD2	29072	HP:0000098	Tall stature
OMIM:117550	SETD2	29072	HP:0000639	Nystagmus
OMIM:117550	SETD2	29072	HP:0001347	Hyperreflexia
OMIM:117550	SETD2	29072	HP:0000218	High palate
OMIM:117550	SETD2	29072	HP:0000405	Conductive hearing impairment
OMIM:117550	SETD2	29072	HP:0001763	Pes planus
OMIM:117550	SETD2	29072	HP:0000006	Autosomal dominant inheritance
OMIM:117550	SETD2	29072	HP:0000494	Downslanted palpebral fissures
OMIM:117550	SETD2	29072	HP:0002474	Expressive language delay
OMIM:117550	SETD2	29072	HP:0100543	Cognitive impairment
OMIM:117550	SETD2	29072	HP:0000457	Depressed nasal ridge
OMIM:117550	SETD2	29072	HP:0001643	Patent ductus arteriosus
OMIM:117550	SETD2	29072	HP:0000113	Polycystic kidney dysplasia
OMIM:117550	SETD2	29072	HP:0001338	Partial agenesis of the corpus callosum
OMIM:117550	SETD2	29072	HP:0004375	Neoplasm of the nervous system
OMIM:117550	SETD2	29072	HP:0001513	Obesity
OMIM:117550	SETD2	29072	HP:0002650	Scoliosis
OMIM:117550	SETD2	29072	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:117550	SETD2	29072	HP:0001943	Hypoglycemia
OMIM:117550	SETD2	29072	HP:0001176	Large hands
OMIM:117550	SETD2	29072	HP:0001249	Intellectual disability
OMIM:117550	SETD2	29072	HP:0003745	Sporadic
OMIM:117550	SETD2	29072	HP:0000069	Abnormality of the ureter
OMIM:117550	SETD2	29072	HP:0001363	Craniosynostosis
OMIM:117550	SETD2	29072	HP:0100627	Displacement of the external urethral meatus
OMIM:117550	SETD2	29072	HP:0000303	Mandibular prognathia
OMIM:117550	SETD2	29072	HP:0000388	Otitis media
OMIM:117550	SETD2	29072	HP:0009890	High anterior hairline
OMIM:117550	SETD2	29072	HP:0001792	Small nail
OMIM:117550	SETD2	29072	HP:0000348	High forehead
OMIM:117550	SETD2	29072	HP:0000280	Coarse facial features
OMIM:117550	SETD2	29072	HP:0000826	Precocious puberty
OMIM:117550	SETD2	29072	HP:0001319	Neonatal hypotonia
OMIM:117550	SETD2	29072	HP:0000347	Micrognathia
OMIM:117550	SETD2	29072	HP:0001952	Abnormal glucose tolerance
OMIM:117550	SETD2	29072	HP:0003272	Abnormality of the hip bone
OMIM:117550	SETD2	29072	HP:0000189	Narrow palate
OMIM:117550	SETD2	29072	HP:0000463	Anteverted nares
OMIM:117550	NSD1	64324	HP:0001631	Atria septal defect
OMIM:117550	NSD1	64324	HP:0002007	Frontal bossing
OMIM:117550	NSD1	64324	HP:0000307	Pointed chin
OMIM:117550	NSD1	64324	HP:0001629	Ventricular septal defect
OMIM:117550	NSD1	64324	HP:0000268	Dolichocephaly
OMIM:117550	NSD1	64324	HP:0000540	Hypermetropia
OMIM:117550	NSD1	64324	HP:0002353	EEG abnormality
OMIM:117550	NSD1	64324	HP:0000256	Macrocephaly
OMIM:117550	NSD1	64324	HP:0002370	Poor coordination
OMIM:117550	NSD1	64324	HP:0002857	Genu valgum
OMIM:117550	NSD1	64324	HP:0005616	Accelerated skeletal maturation
OMIM:117550	NSD1	64324	HP:0001263	Global developmental delay
OMIM:117550	NSD1	64324	HP:0006288	Advanced eruption of teeth
OMIM:117550	NSD1	64324	HP:0000028	Cryptorchidism
OMIM:117550	NSD1	64324	HP:0001388	Joint laxity
OMIM:117550	NSD1	64324	HP:0000400	Macrotia
OMIM:117550	NSD1	64324	HP:0000708	Behavioral abnormality
OMIM:117550	NSD1	64324	HP:0000316	Hypertelorism
OMIM:117550	NSD1	64324	HP:0001231	Abnormality of the fingernails
OMIM:117550	NSD1	64324	HP:0001250	Seizures
OMIM:117550	NSD1	64324	HP:0001833	Long foot
OMIM:117550	NSD1	64324	HP:0000486	Strabismus
OMIM:117550	NSD1	64324	HP:0002970	Genu varum
OMIM:117550	NSD1	64324	HP:0000098	Tall stature
OMIM:117550	NSD1	64324	HP:0000639	Nystagmus
OMIM:117550	NSD1	64324	HP:0001347	Hyperreflexia
OMIM:117550	NSD1	64324	HP:0000218	High palate
OMIM:117550	NSD1	64324	HP:0000405	Conductive hearing impairment
OMIM:117550	NSD1	64324	HP:0001763	Pes planus
OMIM:117550	NSD1	64324	HP:0000006	Autosomal dominant inheritance
OMIM:117550	NSD1	64324	HP:0000494	Downslanted palpebral fissures
OMIM:117550	NSD1	64324	HP:0002474	Expressive language delay
OMIM:117550	NSD1	64324	HP:0100543	Cognitive impairment
OMIM:117550	NSD1	64324	HP:0000457	Depressed nasal ridge
OMIM:117550	NSD1	64324	HP:0001643	Patent ductus arteriosus
OMIM:117550	NSD1	64324	HP:0000113	Polycystic kidney dysplasia
OMIM:117550	NSD1	64324	HP:0001338	Partial agenesis of the corpus callosum
OMIM:117550	NSD1	64324	HP:0004375	Neoplasm of the nervous system
OMIM:117550	NSD1	64324	HP:0001513	Obesity
OMIM:117550	NSD1	64324	HP:0002650	Scoliosis
OMIM:117550	NSD1	64324	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:117550	NSD1	64324	HP:0001943	Hypoglycemia
OMIM:117550	NSD1	64324	HP:0001176	Large hands
OMIM:117550	NSD1	64324	HP:0001249	Intellectual disability
OMIM:117550	NSD1	64324	HP:0003745	Sporadic
OMIM:117550	NSD1	64324	HP:0000069	Abnormality of the ureter
OMIM:117550	NSD1	64324	HP:0001363	Craniosynostosis
OMIM:117550	NSD1	64324	HP:0100627	Displacement of the external urethral meatus
OMIM:117550	NSD1	64324	HP:0000303	Mandibular prognathia
OMIM:117550	NSD1	64324	HP:0000388	Otitis media
OMIM:117550	NSD1	64324	HP:0009890	High anterior hairline
OMIM:117550	NSD1	64324	HP:0001792	Small nail
OMIM:117550	NSD1	64324	HP:0000348	High forehead
OMIM:117550	NSD1	64324	HP:0000280	Coarse facial features
OMIM:117550	NSD1	64324	HP:0000826	Precocious puberty
OMIM:117550	NSD1	64324	HP:0001319	Neonatal hypotonia
OMIM:117550	NSD1	64324	HP:0000347	Micrognathia
OMIM:117550	NSD1	64324	HP:0001952	Abnormal glucose tolerance
OMIM:117550	NSD1	64324	HP:0003272	Abnormality of the hip bone
OMIM:117550	NSD1	64324	HP:0000189	Narrow palate
OMIM:117550	NSD1	64324	HP:0000463	Anteverted nares
OMIM:117550	APC2	10297	HP:0001631	Atria septal defect
OMIM:117550	APC2	10297	HP:0002007	Frontal bossing
OMIM:117550	APC2	10297	HP:0000307	Pointed chin
OMIM:117550	APC2	10297	HP:0001629	Ventricular septal defect
OMIM:117550	APC2	10297	HP:0000268	Dolichocephaly
OMIM:117550	APC2	10297	HP:0000540	Hypermetropia
OMIM:117550	APC2	10297	HP:0002353	EEG abnormality
OMIM:117550	APC2	10297	HP:0000256	Macrocephaly
OMIM:117550	APC2	10297	HP:0002370	Poor coordination
OMIM:117550	APC2	10297	HP:0002857	Genu valgum
OMIM:117550	APC2	10297	HP:0005616	Accelerated skeletal maturation
OMIM:117550	APC2	10297	HP:0001263	Global developmental delay
OMIM:117550	APC2	10297	HP:0006288	Advanced eruption of teeth
OMIM:117550	APC2	10297	HP:0000028	Cryptorchidism
OMIM:117550	APC2	10297	HP:0001388	Joint laxity
OMIM:117550	APC2	10297	HP:0000400	Macrotia
OMIM:117550	APC2	10297	HP:0000708	Behavioral abnormality
OMIM:117550	APC2	10297	HP:0000316	Hypertelorism
OMIM:117550	APC2	10297	HP:0001231	Abnormality of the fingernails
OMIM:117550	APC2	10297	HP:0001250	Seizures
OMIM:117550	APC2	10297	HP:0001833	Long foot
OMIM:117550	APC2	10297	HP:0000486	Strabismus
OMIM:117550	APC2	10297	HP:0002970	Genu varum
OMIM:117550	APC2	10297	HP:0000098	Tall stature
OMIM:117550	APC2	10297	HP:0000639	Nystagmus
OMIM:117550	APC2	10297	HP:0001347	Hyperreflexia
OMIM:117550	APC2	10297	HP:0000218	High palate
OMIM:117550	APC2	10297	HP:0000405	Conductive hearing impairment
OMIM:117550	APC2	10297	HP:0001763	Pes planus
OMIM:117550	APC2	10297	HP:0000006	Autosomal dominant inheritance
OMIM:117550	APC2	10297	HP:0000494	Downslanted palpebral fissures
OMIM:117550	APC2	10297	HP:0002474	Expressive language delay
OMIM:117550	APC2	10297	HP:0100543	Cognitive impairment
OMIM:117550	APC2	10297	HP:0000457	Depressed nasal ridge
OMIM:117550	APC2	10297	HP:0001643	Patent ductus arteriosus
OMIM:117550	APC2	10297	HP:0000113	Polycystic kidney dysplasia
OMIM:117550	APC2	10297	HP:0001338	Partial agenesis of the corpus callosum
OMIM:117550	APC2	10297	HP:0004375	Neoplasm of the nervous system
OMIM:117550	APC2	10297	HP:0001513	Obesity
OMIM:117550	APC2	10297	HP:0002650	Scoliosis
OMIM:117550	APC2	10297	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:117550	APC2	10297	HP:0001943	Hypoglycemia
OMIM:117550	APC2	10297	HP:0001176	Large hands
OMIM:117550	APC2	10297	HP:0001249	Intellectual disability
OMIM:117550	APC2	10297	HP:0003745	Sporadic
OMIM:117550	APC2	10297	HP:0000069	Abnormality of the ureter
OMIM:117550	APC2	10297	HP:0001363	Craniosynostosis
OMIM:117550	APC2	10297	HP:0100627	Displacement of the external urethral meatus
OMIM:117550	APC2	10297	HP:0000303	Mandibular prognathia
OMIM:117550	APC2	10297	HP:0000388	Otitis media
OMIM:117550	APC2	10297	HP:0009890	High anterior hairline
OMIM:117550	APC2	10297	HP:0001792	Small nail
OMIM:117550	APC2	10297	HP:0000348	High forehead
OMIM:117550	APC2	10297	HP:0000280	Coarse facial features
OMIM:117550	APC2	10297	HP:0000826	Precocious puberty
OMIM:117550	APC2	10297	HP:0001319	Neonatal hypotonia
OMIM:117550	APC2	10297	HP:0000347	Micrognathia
OMIM:117550	APC2	10297	HP:0001952	Abnormal glucose tolerance
OMIM:117550	APC2	10297	HP:0003272	Abnormality of the hip bone
OMIM:117550	APC2	10297	HP:0000189	Narrow palate
OMIM:117550	APC2	10297	HP:0000463	Anteverted nares
OMIM:608768	ATXN8	724066	HP:0001337	Tremor
OMIM:608768	ATXN8	724066	HP:0001260	Dysarthria
OMIM:608768	ATXN8	724066	HP:0000639	Nystagmus
OMIM:608768	ATXN8	724066	HP:0002311	Incoordination
OMIM:608768	ATXN8	724066	HP:0000006	Autosomal dominant inheritance
OMIM:608768	ATXN8	724066	HP:0001257	Spasticity
OMIM:608768	ATXN8	724066	HP:0002015	Dysphagia
OMIM:608768	ATXN8	724066	HP:0001272	Cerebellar atrophy
OMIM:608768	ATXN8	724066	HP:0007772	Impaired smooth pursuit
OMIM:608768	ATXN8	724066	HP:0007256	Abnormal pyramidal signs
OMIM:608768	ATXN8	724066	HP:0000763	Sensory neuropathy
OMIM:608768	ATXN8	724066	HP:0009830	Peripheral neuropathy
OMIM:608768	ATXN8	724066	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608768	ATXN8OS	6315	HP:0001337	Tremor
OMIM:608768	ATXN8OS	6315	HP:0001260	Dysarthria
OMIM:608768	ATXN8OS	6315	HP:0000639	Nystagmus
OMIM:608768	ATXN8OS	6315	HP:0002311	Incoordination
OMIM:608768	ATXN8OS	6315	HP:0000006	Autosomal dominant inheritance
OMIM:608768	ATXN8OS	6315	HP:0001257	Spasticity
OMIM:608768	ATXN8OS	6315	HP:0002015	Dysphagia
OMIM:608768	ATXN8OS	6315	HP:0001272	Cerebellar atrophy
OMIM:608768	ATXN8OS	6315	HP:0007772	Impaired smooth pursuit
OMIM:608768	ATXN8OS	6315	HP:0007256	Abnormal pyramidal signs
OMIM:608768	ATXN8OS	6315	HP:0000763	Sensory neuropathy
OMIM:608768	ATXN8OS	6315	HP:0009830	Peripheral neuropathy
OMIM:608768	ATXN8OS	6315	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:128235	ATP1A3	478	HP:0000716	Depression
OMIM:128235	ATP1A3	478	HP:0011462	Young adult onset
OMIM:128235	ATP1A3	478	HP:0002015	Dysphagia
OMIM:128235	ATP1A3	478	HP:0000006	Autosomal dominant inheritance
OMIM:128235	ATP1A3	478	HP:0000739	Anxiety
OMIM:128235	ATP1A3	478	HP:0000712	Emotional lability
OMIM:128235	ATP1A3	478	HP:0002172	Postural instability
OMIM:128235	ATP1A3	478	HP:0001300	Parkinsonism
OMIM:128235	ATP1A3	478	HP:0003829	Incomplete penetrance
OMIM:128235	ATP1A3	478	HP:0002307	Drooling
OMIM:128235	ATP1A3	478	HP:0000338	Hypomimic face
OMIM:128235	ATP1A3	478	HP:0000473	Torticollis
OMIM:128235	ATP1A3	478	HP:0002317	Unsteady gait
OMIM:128235	ATP1A3	478	HP:0001260	Dysarthria
OMIM:128235	ATP1A3	478	HP:0002067	Bradykinesia
OMIM:174500	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:174500	SHH	6469	HP:0001770	Toe syndactyly
OMIM:174500	SHH	6469	HP:0001162	Postaxial hand polydactyly
OMIM:174500	SHH	6469	HP:0001159	Syndactyly
OMIM:174500	SHH	6469	HP:0001199	Triphalangeal thumb
OMIM:174500	SHH	6469	HP:0001841	Preaxial foot polydactyly
OMIM:174500	SHH	6469	HP:0001163	Abnormality of the metacarpal bones
OMIM:174500	SHH	6469	HP:0001177	Preaxial hand polydactyly
OMIM:174500	SHH	6469	HP:0006101	Finger syndactyly
OMIM:174500	SHH	6469	HP:0010066	Duplication of phalanx of hallux
OMIM:174500	SHH	6469	HP:0009942	Duplication of thumb phalanx
OMIM:174500	LMBR1	64327	HP:0000006	Autosomal dominant inheritance
OMIM:174500	LMBR1	64327	HP:0001770	Toe syndactyly
OMIM:174500	LMBR1	64327	HP:0001162	Postaxial hand polydactyly
OMIM:174500	LMBR1	64327	HP:0001159	Syndactyly
OMIM:174500	LMBR1	64327	HP:0001199	Triphalangeal thumb
OMIM:174500	LMBR1	64327	HP:0001841	Preaxial foot polydactyly
OMIM:174500	LMBR1	64327	HP:0001163	Abnormality of the metacarpal bones
OMIM:174500	LMBR1	64327	HP:0001177	Preaxial hand polydactyly
OMIM:174500	LMBR1	64327	HP:0006101	Finger syndactyly
OMIM:174500	LMBR1	64327	HP:0010066	Duplication of phalanx of hallux
OMIM:174500	LMBR1	64327	HP:0009942	Duplication of thumb phalanx
OMIM:239850	KCNJ8	3764	HP:0010109	Short hallux
OMIM:239850	KCNJ8	3764	HP:0001640	Cardiomegaly
OMIM:239850	KCNJ8	3764	HP:0000179	Thick lower lip vermilion
OMIM:239850	KCNJ8	3764	HP:0002750	Delayed skeletal maturation
OMIM:239850	KCNJ8	3764	HP:0001004	Lymphedema
OMIM:239850	KCNJ8	3764	HP:0005280	Depressed nasal bridge
OMIM:239850	KCNJ8	3764	HP:0000294	Low anterior hairline
OMIM:239850	KCNJ8	3764	HP:0001654	Abnormality of the heart valves
OMIM:239850	KCNJ8	3764	HP:0001841	Preaxial foot polydactyly
OMIM:239850	KCNJ8	3764	HP:0003016	Metaphyseal widening
OMIM:239850	KCNJ8	3764	HP:0000527	Long eyelashes
OMIM:239850	KCNJ8	3764	HP:0000774	Narrow chest
OMIM:239850	KCNJ8	3764	HP:0001647	Bicuspid aortic valve
OMIM:239850	KCNJ8	3764	HP:0001639	Hypertrophic cardiomyopathy
OMIM:239850	KCNJ8	3764	HP:0000212	Gingival overgrowth
OMIM:239850	KCNJ8	3764	HP:0000463	Anteverted nares
OMIM:239850	KCNJ8	3764	HP:0001256	Intellectual disability, mild
OMIM:239850	KCNJ8	3764	HP:0003043	Abnormality of the shoulder
OMIM:239850	KCNJ8	3764	HP:0003272	Abnormality of the hip bone
OMIM:239850	KCNJ8	3764	HP:0000006	Autosomal dominant inheritance
OMIM:239850	KCNJ8	3764	HP:0000154	Wide mouth
OMIM:239850	KCNJ8	3764	HP:0100543	Cognitive impairment
OMIM:239850	KCNJ8	3764	HP:0000343	Long philtrum
OMIM:239850	KCNJ8	3764	HP:0000470	Short neck
OMIM:239850	KCNJ8	3764	HP:0009882	Short distal phalanx of finger
OMIM:239850	KCNJ8	3764	HP:0006101	Finger syndactyly
OMIM:239850	KCNJ8	3764	HP:0000286	Epicanthus
OMIM:239850	KCNJ8	3764	HP:0000926	Platyspondyly
OMIM:239850	KCNJ8	3764	HP:0000772	Abnormality of the ribs
OMIM:239850	KCNJ8	3764	HP:0000939	Osteoporosis
OMIM:239850	KCNJ8	3764	HP:0000998	Hypertrichosis
OMIM:239850	KCNJ8	3764	HP:0005616	Accelerated skeletal maturation
OMIM:239850	KCNJ8	3764	HP:0001643	Patent ductus arteriosus
OMIM:239850	KCNJ8	3764	HP:0010055	Broad hallux
OMIM:239850	KCNJ8	3764	HP:0000256	Macrocephaly
OMIM:239850	KCNJ8	3764	HP:0000944	Abnormality of the metaphyses
OMIM:239850	KCNJ8	3764	HP:0001537	Umbilical hernia
OMIM:239850	KCNJ8	3764	HP:0000336	Prominent supraorbital ridges
OMIM:239850	KCNJ8	3764	HP:0000574	Thick eyebrow
OMIM:239850	KCNJ8	3764	HP:0002652	Skeletal dysplasia
OMIM:239850	KCNJ8	3764	HP:0011220	Prominent forehead
OMIM:239850	KCNJ8	3764	HP:0005445	Widened posterior fossa
OMIM:239850	KCNJ8	3764	HP:0002673	Coxa valga
OMIM:239850	KCNJ8	3764	HP:0004349	Reduced bone mineral density
OMIM:239850	KCNJ8	3764	HP:0002162	Low posterior hairline
OMIM:239850	KCNJ8	3764	HP:0000280	Coarse facial features
OMIM:239850	KCNJ8	3764	HP:0003300	Ovoid vertebral bodies
OMIM:239850	KCNJ8	3764	HP:0000431	Wide nasal bridge
OMIM:239850	KCNJ8	3764	HP:0000215	Thick upper lip vermilion
OMIM:239850	ABCC9	10060	HP:0010109	Short hallux
OMIM:239850	ABCC9	10060	HP:0001640	Cardiomegaly
OMIM:239850	ABCC9	10060	HP:0000179	Thick lower lip vermilion
OMIM:239850	ABCC9	10060	HP:0002750	Delayed skeletal maturation
OMIM:239850	ABCC9	10060	HP:0001004	Lymphedema
OMIM:239850	ABCC9	10060	HP:0005280	Depressed nasal bridge
OMIM:239850	ABCC9	10060	HP:0000294	Low anterior hairline
OMIM:239850	ABCC9	10060	HP:0001654	Abnormality of the heart valves
OMIM:239850	ABCC9	10060	HP:0001841	Preaxial foot polydactyly
OMIM:239850	ABCC9	10060	HP:0003016	Metaphyseal widening
OMIM:239850	ABCC9	10060	HP:0000527	Long eyelashes
OMIM:239850	ABCC9	10060	HP:0000774	Narrow chest
OMIM:239850	ABCC9	10060	HP:0001647	Bicuspid aortic valve
OMIM:239850	ABCC9	10060	HP:0001639	Hypertrophic cardiomyopathy
OMIM:239850	ABCC9	10060	HP:0000212	Gingival overgrowth
OMIM:239850	ABCC9	10060	HP:0000463	Anteverted nares
OMIM:239850	ABCC9	10060	HP:0001256	Intellectual disability, mild
OMIM:239850	ABCC9	10060	HP:0003043	Abnormality of the shoulder
OMIM:239850	ABCC9	10060	HP:0003272	Abnormality of the hip bone
OMIM:239850	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:239850	ABCC9	10060	HP:0000154	Wide mouth
OMIM:239850	ABCC9	10060	HP:0100543	Cognitive impairment
OMIM:239850	ABCC9	10060	HP:0000343	Long philtrum
OMIM:239850	ABCC9	10060	HP:0000470	Short neck
OMIM:239850	ABCC9	10060	HP:0009882	Short distal phalanx of finger
OMIM:239850	ABCC9	10060	HP:0006101	Finger syndactyly
OMIM:239850	ABCC9	10060	HP:0000286	Epicanthus
OMIM:239850	ABCC9	10060	HP:0000926	Platyspondyly
OMIM:239850	ABCC9	10060	HP:0000772	Abnormality of the ribs
OMIM:239850	ABCC9	10060	HP:0000939	Osteoporosis
OMIM:239850	ABCC9	10060	HP:0000998	Hypertrichosis
OMIM:239850	ABCC9	10060	HP:0005616	Accelerated skeletal maturation
OMIM:239850	ABCC9	10060	HP:0001643	Patent ductus arteriosus
OMIM:239850	ABCC9	10060	HP:0010055	Broad hallux
OMIM:239850	ABCC9	10060	HP:0000256	Macrocephaly
OMIM:239850	ABCC9	10060	HP:0000944	Abnormality of the metaphyses
OMIM:239850	ABCC9	10060	HP:0001537	Umbilical hernia
OMIM:239850	ABCC9	10060	HP:0000336	Prominent supraorbital ridges
OMIM:239850	ABCC9	10060	HP:0000574	Thick eyebrow
OMIM:239850	ABCC9	10060	HP:0002652	Skeletal dysplasia
OMIM:239850	ABCC9	10060	HP:0011220	Prominent forehead
OMIM:239850	ABCC9	10060	HP:0005445	Widened posterior fossa
OMIM:239850	ABCC9	10060	HP:0002673	Coxa valga
OMIM:239850	ABCC9	10060	HP:0004349	Reduced bone mineral density
OMIM:239850	ABCC9	10060	HP:0002162	Low posterior hairline
OMIM:239850	ABCC9	10060	HP:0000280	Coarse facial features
OMIM:239850	ABCC9	10060	HP:0003300	Ovoid vertebral bodies
OMIM:239850	ABCC9	10060	HP:0000431	Wide nasal bridge
OMIM:239850	ABCC9	10060	HP:0000215	Thick upper lip vermilion
OMIM:153640	MYH9	4627	HP:0000093	Proteinuria
OMIM:153640	MYH9	4627	HP:0000790	Hematuria
OMIM:153640	MYH9	4627	HP:0001892	Abnormal bleeding
OMIM:153640	MYH9	4627	HP:0003010	Prolonged bleeding time
OMIM:153640	MYH9	4627	HP:0003774	Stage 5 chronic kidney disease
OMIM:153640	MYH9	4627	HP:0001873	Thrombocytopenia
OMIM:153640	MYH9	4627	HP:0000978	Bruising susceptibility
OMIM:153640	MYH9	4627	HP:0000519	Congenital cataract
OMIM:153640	MYH9	4627	HP:0000123	Nephritis
OMIM:153640	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:616341	KCNB1	3745	HP:0001344	Absent speech
OMIM:616341	KCNB1	3745	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	KCNB1	3745	HP:0001298	Encephalopathy
OMIM:616341	KCNB1	3745	HP:0002521	Hypsarrhythmia
OMIM:616341	KCNB1	3745	HP:0002123	Generalized myoclonic seizures
OMIM:616341	KCNB1	3745	HP:0002880	Respiratory difficulties
OMIM:616341	KCNB1	3745	HP:0001263	Global developmental delay
OMIM:616341	KCNB1	3745	HP:0011968	Feeding difficulties
OMIM:616341	PIGQ	9091	HP:0001344	Absent speech
OMIM:616341	PIGQ	9091	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	PIGQ	9091	HP:0001298	Encephalopathy
OMIM:616341	PIGQ	9091	HP:0002521	Hypsarrhythmia
OMIM:616341	PIGQ	9091	HP:0002123	Generalized myoclonic seizures
OMIM:616341	PIGQ	9091	HP:0002880	Respiratory difficulties
OMIM:616341	PIGQ	9091	HP:0001263	Global developmental delay
OMIM:616341	PIGQ	9091	HP:0011968	Feeding difficulties
OMIM:616341	PLCB1	23236	HP:0001344	Absent speech
OMIM:616341	PLCB1	23236	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	PLCB1	23236	HP:0001298	Encephalopathy
OMIM:616341	PLCB1	23236	HP:0002521	Hypsarrhythmia
OMIM:616341	PLCB1	23236	HP:0002123	Generalized myoclonic seizures
OMIM:616341	PLCB1	23236	HP:0002880	Respiratory difficulties
OMIM:616341	PLCB1	23236	HP:0001263	Global developmental delay
OMIM:616341	PLCB1	23236	HP:0011968	Feeding difficulties
OMIM:616341	SLC25A22	79751	HP:0001344	Absent speech
OMIM:616341	SLC25A22	79751	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	SLC25A22	79751	HP:0001298	Encephalopathy
OMIM:616341	SLC25A22	79751	HP:0002521	Hypsarrhythmia
OMIM:616341	SLC25A22	79751	HP:0002123	Generalized myoclonic seizures
OMIM:616341	SLC25A22	79751	HP:0002880	Respiratory difficulties
OMIM:616341	SLC25A22	79751	HP:0001263	Global developmental delay
OMIM:616341	SLC25A22	79751	HP:0011968	Feeding difficulties
OMIM:616341	CDKL5	6792	HP:0001344	Absent speech
OMIM:616341	CDKL5	6792	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	CDKL5	6792	HP:0001298	Encephalopathy
OMIM:616341	CDKL5	6792	HP:0002521	Hypsarrhythmia
OMIM:616341	CDKL5	6792	HP:0002123	Generalized myoclonic seizures
OMIM:616341	CDKL5	6792	HP:0002880	Respiratory difficulties
OMIM:616341	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:616341	CDKL5	6792	HP:0011968	Feeding difficulties
OMIM:616341	KCNQ2	3785	HP:0001344	Absent speech
OMIM:616341	KCNQ2	3785	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	KCNQ2	3785	HP:0001298	Encephalopathy
OMIM:616341	KCNQ2	3785	HP:0002521	Hypsarrhythmia
OMIM:616341	KCNQ2	3785	HP:0002123	Generalized myoclonic seizures
OMIM:616341	KCNQ2	3785	HP:0002880	Respiratory difficulties
OMIM:616341	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:616341	KCNQ2	3785	HP:0011968	Feeding difficulties
OMIM:616341	SLC13A5	284111	HP:0001344	Absent speech
OMIM:616341	SLC13A5	284111	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	SLC13A5	284111	HP:0001298	Encephalopathy
OMIM:616341	SLC13A5	284111	HP:0002521	Hypsarrhythmia
OMIM:616341	SLC13A5	284111	HP:0002123	Generalized myoclonic seizures
OMIM:616341	SLC13A5	284111	HP:0002880	Respiratory difficulties
OMIM:616341	SLC13A5	284111	HP:0001263	Global developmental delay
OMIM:616341	SLC13A5	284111	HP:0011968	Feeding difficulties
OMIM:616341	SIK1	150094	HP:0001344	Absent speech
OMIM:616341	SIK1	150094	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	SIK1	150094	HP:0001298	Encephalopathy
OMIM:616341	SIK1	150094	HP:0002521	Hypsarrhythmia
OMIM:616341	SIK1	150094	HP:0002123	Generalized myoclonic seizures
OMIM:616341	SIK1	150094	HP:0002880	Respiratory difficulties
OMIM:616341	SIK1	150094	HP:0001263	Global developmental delay
OMIM:616341	SIK1	150094	HP:0011968	Feeding difficulties
OMIM:616341	HCN1	348980	HP:0001344	Absent speech
OMIM:616341	HCN1	348980	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	HCN1	348980	HP:0001298	Encephalopathy
OMIM:616341	HCN1	348980	HP:0002521	Hypsarrhythmia
OMIM:616341	HCN1	348980	HP:0002123	Generalized myoclonic seizures
OMIM:616341	HCN1	348980	HP:0002880	Respiratory difficulties
OMIM:616341	HCN1	348980	HP:0001263	Global developmental delay
OMIM:616341	HCN1	348980	HP:0011968	Feeding difficulties
OMIM:616341	PNKP	11284	HP:0001344	Absent speech
OMIM:616341	PNKP	11284	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	PNKP	11284	HP:0001298	Encephalopathy
OMIM:616341	PNKP	11284	HP:0002521	Hypsarrhythmia
OMIM:616341	PNKP	11284	HP:0002123	Generalized myoclonic seizures
OMIM:616341	PNKP	11284	HP:0002880	Respiratory difficulties
OMIM:616341	PNKP	11284	HP:0001263	Global developmental delay
OMIM:616341	PNKP	11284	HP:0011968	Feeding difficulties
OMIM:616341	SPTAN1	6709	HP:0001344	Absent speech
OMIM:616341	SPTAN1	6709	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	SPTAN1	6709	HP:0001298	Encephalopathy
OMIM:616341	SPTAN1	6709	HP:0002521	Hypsarrhythmia
OMIM:616341	SPTAN1	6709	HP:0002123	Generalized myoclonic seizures
OMIM:616341	SPTAN1	6709	HP:0002880	Respiratory difficulties
OMIM:616341	SPTAN1	6709	HP:0001263	Global developmental delay
OMIM:616341	SPTAN1	6709	HP:0011968	Feeding difficulties
OMIM:616341	SCN2A	6326	HP:0001344	Absent speech
OMIM:616341	SCN2A	6326	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	SCN2A	6326	HP:0001298	Encephalopathy
OMIM:616341	SCN2A	6326	HP:0002521	Hypsarrhythmia
OMIM:616341	SCN2A	6326	HP:0002123	Generalized myoclonic seizures
OMIM:616341	SCN2A	6326	HP:0002880	Respiratory difficulties
OMIM:616341	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:616341	SCN2A	6326	HP:0011968	Feeding difficulties
OMIM:616341	GNAO1	2775	HP:0001344	Absent speech
OMIM:616341	GNAO1	2775	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	GNAO1	2775	HP:0001298	Encephalopathy
OMIM:616341	GNAO1	2775	HP:0002521	Hypsarrhythmia
OMIM:616341	GNAO1	2775	HP:0002123	Generalized myoclonic seizures
OMIM:616341	GNAO1	2775	HP:0002880	Respiratory difficulties
OMIM:616341	GNAO1	2775	HP:0001263	Global developmental delay
OMIM:616341	GNAO1	2775	HP:0011968	Feeding difficulties
OMIM:616341	ST3GAL3	6487	HP:0001344	Absent speech
OMIM:616341	ST3GAL3	6487	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	ST3GAL3	6487	HP:0001298	Encephalopathy
OMIM:616341	ST3GAL3	6487	HP:0002521	Hypsarrhythmia
OMIM:616341	ST3GAL3	6487	HP:0002123	Generalized myoclonic seizures
OMIM:616341	ST3GAL3	6487	HP:0002880	Respiratory difficulties
OMIM:616341	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:616341	ST3GAL3	6487	HP:0011968	Feeding difficulties
OMIM:616341	GRIN2B	2904	HP:0001344	Absent speech
OMIM:616341	GRIN2B	2904	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	GRIN2B	2904	HP:0001298	Encephalopathy
OMIM:616341	GRIN2B	2904	HP:0002521	Hypsarrhythmia
OMIM:616341	GRIN2B	2904	HP:0002123	Generalized myoclonic seizures
OMIM:616341	GRIN2B	2904	HP:0002880	Respiratory difficulties
OMIM:616341	GRIN2B	2904	HP:0001263	Global developmental delay
OMIM:616341	GRIN2B	2904	HP:0011968	Feeding difficulties
OMIM:616341	NECAP1	25977	HP:0001344	Absent speech
OMIM:616341	NECAP1	25977	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	NECAP1	25977	HP:0001298	Encephalopathy
OMIM:616341	NECAP1	25977	HP:0002521	Hypsarrhythmia
OMIM:616341	NECAP1	25977	HP:0002123	Generalized myoclonic seizures
OMIM:616341	NECAP1	25977	HP:0002880	Respiratory difficulties
OMIM:616341	NECAP1	25977	HP:0001263	Global developmental delay
OMIM:616341	NECAP1	25977	HP:0011968	Feeding difficulties
OMIM:616341	ARX	170302	HP:0001344	Absent speech
OMIM:616341	ARX	170302	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	ARX	170302	HP:0001298	Encephalopathy
OMIM:616341	ARX	170302	HP:0002521	Hypsarrhythmia
OMIM:616341	ARX	170302	HP:0002123	Generalized myoclonic seizures
OMIM:616341	ARX	170302	HP:0002880	Respiratory difficulties
OMIM:616341	ARX	170302	HP:0001263	Global developmental delay
OMIM:616341	ARX	170302	HP:0011968	Feeding difficulties
OMIM:616341	STXBP1	6812	HP:0001344	Absent speech
OMIM:616341	STXBP1	6812	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	STXBP1	6812	HP:0001298	Encephalopathy
OMIM:616341	STXBP1	6812	HP:0002521	Hypsarrhythmia
OMIM:616341	STXBP1	6812	HP:0002123	Generalized myoclonic seizures
OMIM:616341	STXBP1	6812	HP:0002880	Respiratory difficulties
OMIM:616341	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:616341	STXBP1	6812	HP:0011968	Feeding difficulties
OMIM:616341	WWOX	51741	HP:0001344	Absent speech
OMIM:616341	WWOX	51741	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	WWOX	51741	HP:0001298	Encephalopathy
OMIM:616341	WWOX	51741	HP:0002521	Hypsarrhythmia
OMIM:616341	WWOX	51741	HP:0002123	Generalized myoclonic seizures
OMIM:616341	WWOX	51741	HP:0002880	Respiratory difficulties
OMIM:616341	WWOX	51741	HP:0001263	Global developmental delay
OMIM:616341	WWOX	51741	HP:0011968	Feeding difficulties
OMIM:616341	CASK	8573	HP:0001344	Absent speech
OMIM:616341	CASK	8573	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	CASK	8573	HP:0001298	Encephalopathy
OMIM:616341	CASK	8573	HP:0002521	Hypsarrhythmia
OMIM:616341	CASK	8573	HP:0002123	Generalized myoclonic seizures
OMIM:616341	CASK	8573	HP:0002880	Respiratory difficulties
OMIM:616341	CASK	8573	HP:0001263	Global developmental delay
OMIM:616341	CASK	8573	HP:0011968	Feeding difficulties
OMIM:616341	PIGA	5277	HP:0001344	Absent speech
OMIM:616341	PIGA	5277	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	PIGA	5277	HP:0001298	Encephalopathy
OMIM:616341	PIGA	5277	HP:0002521	Hypsarrhythmia
OMIM:616341	PIGA	5277	HP:0002123	Generalized myoclonic seizures
OMIM:616341	PIGA	5277	HP:0002880	Respiratory difficulties
OMIM:616341	PIGA	5277	HP:0001263	Global developmental delay
OMIM:616341	PIGA	5277	HP:0011968	Feeding difficulties
OMIM:616341	SCN8A	6334	HP:0001344	Absent speech
OMIM:616341	SCN8A	6334	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	SCN8A	6334	HP:0001298	Encephalopathy
OMIM:616341	SCN8A	6334	HP:0002521	Hypsarrhythmia
OMIM:616341	SCN8A	6334	HP:0002123	Generalized myoclonic seizures
OMIM:616341	SCN8A	6334	HP:0002880	Respiratory difficulties
OMIM:616341	SCN8A	6334	HP:0001263	Global developmental delay
OMIM:616341	SCN8A	6334	HP:0011968	Feeding difficulties
OMIM:616341	DNM1	1759	HP:0001344	Absent speech
OMIM:616341	DNM1	1759	HP:0002069	Generalized tonic-clonic seizures
OMIM:616341	DNM1	1759	HP:0001298	Encephalopathy
OMIM:616341	DNM1	1759	HP:0002521	Hypsarrhythmia
OMIM:616341	DNM1	1759	HP:0002123	Generalized myoclonic seizures
OMIM:616341	DNM1	1759	HP:0002880	Respiratory difficulties
OMIM:616341	DNM1	1759	HP:0001263	Global developmental delay
OMIM:616341	DNM1	1759	HP:0011968	Feeding difficulties
OMIM:615555	PRLR	5618	HP:0100829	Galactorrhea
OMIM:615555	PRLR	5618	HP:0000006	Autosomal dominant inheritance
OMIM:615555	PRLR	5618	HP:0000876	Oligomenorrhea
OMIM:615555	PRLR	5618	HP:0000870	Prolactin excess
OMIM:615555	PRLR	5618	HP:0000789	Infertility
OMIM:612313	SATB2	23314	HP:0000369	Low-set ears
OMIM:612313	SATB2	23314	HP:0000426	Prominent nasal bridge
OMIM:612313	SATB2	23314	HP:0001250	Seizures
OMIM:612313	SATB2	23314	HP:0000035	Abnormality of the testis
OMIM:612313	SATB2	23314	HP:0000494	Downslanted palpebral fissures
OMIM:612313	SATB2	23314	HP:0000718	Aggressive behavior
OMIM:612313	SATB2	23314	HP:0008070	Sparse hair
OMIM:612313	SATB2	23314	HP:0000486	Strabismus
OMIM:612313	SATB2	23314	HP:0012385	Camptodactyly
OMIM:612313	SATB2	23314	HP:0000750	Delayed speech and language development
OMIM:612313	SATB2	23314	HP:0000463	Anteverted nares
OMIM:612313	SATB2	23314	HP:0000175	Cleft palate
OMIM:612313	SATB2	23314	HP:0001382	Joint hypermobility
OMIM:612313	SATB2	23314	HP:0000218	High palate
OMIM:612313	SATB2	23314	HP:0000233	Thin vermilion border
OMIM:612313	SATB2	23314	HP:0000963	Thin skin
OMIM:612313	SATB2	23314	HP:0000324	Facial asymmetry
OMIM:612313	SATB2	23314	HP:0004209	Clinodactyly of the 5th finger
OMIM:612313	SATB2	23314	HP:0002360	Sleep disturbance
OMIM:612313	SATB2	23314	HP:0007018	Attention deficit hyperactivity disorder
OMIM:612313	SATB2	23314	HP:0000348	High forehead
OMIM:612313	SATB2	23314	HP:0000444	Convex nasal ridge
OMIM:612313	SATB2	23314	HP:0000347	Micrognathia
OMIM:612313	SATB2	23314	HP:0002167	Neurological speech impairment
OMIM:612313	SATB2	23314	HP:0001762	Talipes equinovarus
OMIM:612313	SATB2	23314	HP:0011800	Hypoplasia of midface
OMIM:612313	SATB2	23314	HP:0100499	Tibial deviation of toes
OMIM:612313	SATB2	23314	HP:0000276	Long face
OMIM:612313	SATB2	23314	HP:0001608	Abnormality of the voice
OMIM:612313	SATB2	23314	HP:0002213	Fine hair
OMIM:612313	SATB2	23314	HP:0000023	Inguinal hernia
OMIM:612313	SATB2	23314	HP:0004322	Short stature
OMIM:612313	SATB2	23314	HP:0000252	Microcephaly
OMIM:612313	SATB2	23314	HP:0009804	Reduced number of teeth
OMIM:612313	SATB2	23314	HP:0000160	Narrow mouth
OMIM:612313	SATB2	23314	HP:0001883	Talipes
OMIM:612313	SATB2	23314	HP:0001841	Preaxial foot polydactyly
OMIM:612313	SATB2	23314	HP:0001166	Arachnodactyly
OMIM:612313	SATB2	23314	HP:0000319	Smooth philtrum
OMIM:612313	SATB2	23314	HP:0002007	Frontal bossing
OMIM:612313	SATB2	23314	HP:0000343	Long philtrum
OMIM:612313	SATB2	23314	HP:0006482	Abnormality of dental morphology
OMIM:612313	SATB2	23314	HP:0000717	Autism
OMIM:612313	SATB2	23314	HP:0009602	Abnormality of thumb phalanx
OMIM:612313	SATB2	23314	HP:0002648	Abnormality of calvarial morphology
OMIM:612313	SATB2	23314	HP:0000414	Bulbous nose
OMIM:612313	SATB2	23314	HP:0000678	Dental crowding
OMIM:612313	SATB2	23314	HP:0011362	Abnormal hair quantity
OMIM:612313	SATB2	23314	HP:0001249	Intellectual disability
OMIM:612313	SATB2	23314	HP:0003189	Long nose
OMIM:612313	SATB2	23314	HP:0000368	Low-set, posteriorly rotated ears
OMIM:612313	SATB2	23314	HP:0002164	Nail dysplasia
OMIM:612313	SATB2	23314	HP:0100543	Cognitive impairment
OMIM:612313	SATB2	23314	HP:0000752	Hyperactivity
OMIM:612313	SATB2	23314	HP:0000272	Malar flattening
OMIM:612313	SATB2	23314	HP:0001252	Muscular hypotonia
OMIM:612313	SATB2	23314	HP:0001263	Global developmental delay
OMIM:309800	BCOR	54880	HP:0000396	Overfolded helix
OMIM:309800	BCOR	54880	HP:0000612	Iris coloboma
OMIM:309800	BCOR	54880	HP:0000767	Pectus excavatum
OMIM:309800	BCOR	54880	HP:0008678	Renal hypoplasia/aplasia
OMIM:309800	BCOR	54880	HP:0000678	Dental crowding
OMIM:309800	BCOR	54880	HP:0000047	Hypospadias
OMIM:309800	BCOR	54880	HP:0000218	High palate
OMIM:309800	BCOR	54880	HP:0000618	Blindness
OMIM:309800	BCOR	54880	HP:0001270	Motor delay
OMIM:309800	BCOR	54880	HP:0000482	Microcornea
OMIM:309800	BCOR	54880	HP:0009473	Joint contracture of the hand
OMIM:309800	BCOR	54880	HP:0000252	Microcephaly
OMIM:309800	BCOR	54880	HP:0000465	Webbed neck
OMIM:309800	BCOR	54880	HP:0001159	Syndactyly
OMIM:309800	BCOR	54880	HP:0000072	Hydroureter
OMIM:309800	BCOR	54880	HP:0000508	Ptosis
OMIM:309800	BCOR	54880	HP:0000528	Anophthalmia
OMIM:309800	BCOR	54880	HP:0002023	Anal atresia
OMIM:309800	BCOR	54880	HP:0002089	Pulmonary hypoplasia
OMIM:309800	BCOR	54880	HP:0001647	Bicuspid aortic valve
OMIM:309800	BCOR	54880	HP:0002021	Pyloric stenosis
OMIM:309800	BCOR	54880	HP:0000202	Oral cleft
OMIM:309800	BCOR	54880	HP:0000568	Microphthalmia
OMIM:309800	BCOR	54880	HP:0000742	Self-mutilation
OMIM:309800	BCOR	54880	HP:0001018	Abnormal palmar dermatoglyphics
OMIM:309800	BCOR	54880	HP:0000894	Short clavicles
OMIM:309800	BCOR	54880	HP:0000089	Renal hypoplasia
OMIM:309800	BCOR	54880	HP:0000369	Low-set ears
OMIM:309800	BCOR	54880	HP:0000365	Hearing impairment
OMIM:309800	BCOR	54880	HP:0002035	Rectal prolapse
OMIM:309800	BCOR	54880	HP:0030084	Clinodactyly
OMIM:309800	BCOR	54880	HP:0000567	Chorioretinal coloboma
OMIM:309800	BCOR	54880	HP:0000377	Abnormality of the pinna
OMIM:309800	BCOR	54880	HP:0002751	Kyphoscoliosis
OMIM:309800	BCOR	54880	HP:0000774	Narrow chest
OMIM:309800	BCOR	54880	HP:0001250	Seizures
OMIM:309800	BCOR	54880	HP:0001252	Muscular hypotonia
OMIM:309800	BCOR	54880	HP:0001249	Intellectual disability
OMIM:309800	BCOR	54880	HP:0012385	Camptodactyly
OMIM:309800	BCOR	54880	HP:0001510	Growth delay
OMIM:309800	BCOR	54880	HP:0000588	Optic nerve coloboma
OMIM:309800	BCOR	54880	HP:0009466	Radial deviation of finger
OMIM:309800	BCOR	54880	HP:0000718	Aggressive behavior
OMIM:309800	BCOR	54880	HP:0000028	Cryptorchidism
OMIM:309800	BCOR	54880	HP:0002251	Aganglionic megacolon
OMIM:309800	BCOR	54880	HP:0002938	Lumbar hyperlordosis
OMIM:309800	BCOR	54880	HP:0000204	Cleft upper lip
OMIM:309800	BCOR	54880	HP:0000403	Recurrent otitis media
OMIM:309800	BCOR	54880	HP:0000729	Autistic behavior
OMIM:309800	BCOR	54880	HP:0200021	Down-sloping shoulders
OMIM:309800	BCOR	54880	HP:0001417	X-linked inheritance
OMIM:309800	NAA10	8260	HP:0000396	Overfolded helix
OMIM:309800	NAA10	8260	HP:0000612	Iris coloboma
OMIM:309800	NAA10	8260	HP:0000767	Pectus excavatum
OMIM:309800	NAA10	8260	HP:0008678	Renal hypoplasia/aplasia
OMIM:309800	NAA10	8260	HP:0000678	Dental crowding
OMIM:309800	NAA10	8260	HP:0000047	Hypospadias
OMIM:309800	NAA10	8260	HP:0000218	High palate
OMIM:309800	NAA10	8260	HP:0000618	Blindness
OMIM:309800	NAA10	8260	HP:0001270	Motor delay
OMIM:309800	NAA10	8260	HP:0000482	Microcornea
OMIM:309800	NAA10	8260	HP:0009473	Joint contracture of the hand
OMIM:309800	NAA10	8260	HP:0000252	Microcephaly
OMIM:309800	NAA10	8260	HP:0000465	Webbed neck
OMIM:309800	NAA10	8260	HP:0001159	Syndactyly
OMIM:309800	NAA10	8260	HP:0000072	Hydroureter
OMIM:309800	NAA10	8260	HP:0000508	Ptosis
OMIM:309800	NAA10	8260	HP:0000528	Anophthalmia
OMIM:309800	NAA10	8260	HP:0002023	Anal atresia
OMIM:309800	NAA10	8260	HP:0002089	Pulmonary hypoplasia
OMIM:309800	NAA10	8260	HP:0001647	Bicuspid aortic valve
OMIM:309800	NAA10	8260	HP:0002021	Pyloric stenosis
OMIM:309800	NAA10	8260	HP:0000202	Oral cleft
OMIM:309800	NAA10	8260	HP:0000568	Microphthalmia
OMIM:309800	NAA10	8260	HP:0000742	Self-mutilation
OMIM:309800	NAA10	8260	HP:0001018	Abnormal palmar dermatoglyphics
OMIM:309800	NAA10	8260	HP:0000894	Short clavicles
OMIM:309800	NAA10	8260	HP:0000089	Renal hypoplasia
OMIM:309800	NAA10	8260	HP:0000369	Low-set ears
OMIM:309800	NAA10	8260	HP:0000365	Hearing impairment
OMIM:309800	NAA10	8260	HP:0002035	Rectal prolapse
OMIM:309800	NAA10	8260	HP:0030084	Clinodactyly
OMIM:309800	NAA10	8260	HP:0000567	Chorioretinal coloboma
OMIM:309800	NAA10	8260	HP:0000377	Abnormality of the pinna
OMIM:309800	NAA10	8260	HP:0002751	Kyphoscoliosis
OMIM:309800	NAA10	8260	HP:0000774	Narrow chest
OMIM:309800	NAA10	8260	HP:0001250	Seizures
OMIM:309800	NAA10	8260	HP:0001252	Muscular hypotonia
OMIM:309800	NAA10	8260	HP:0001249	Intellectual disability
OMIM:309800	NAA10	8260	HP:0012385	Camptodactyly
OMIM:309800	NAA10	8260	HP:0001510	Growth delay
OMIM:309800	NAA10	8260	HP:0000588	Optic nerve coloboma
OMIM:309800	NAA10	8260	HP:0009466	Radial deviation of finger
OMIM:309800	NAA10	8260	HP:0000718	Aggressive behavior
OMIM:309800	NAA10	8260	HP:0000028	Cryptorchidism
OMIM:309800	NAA10	8260	HP:0002251	Aganglionic megacolon
OMIM:309800	NAA10	8260	HP:0002938	Lumbar hyperlordosis
OMIM:309800	NAA10	8260	HP:0000204	Cleft upper lip
OMIM:309800	NAA10	8260	HP:0000403	Recurrent otitis media
OMIM:309800	NAA10	8260	HP:0000729	Autistic behavior
OMIM:309800	NAA10	8260	HP:0200021	Down-sloping shoulders
OMIM:309800	NAA10	8260	HP:0001417	X-linked inheritance
OMIM:613744	AP4S1	11154	HP:0003487	Babinski sign
OMIM:613744	AP4S1	11154	HP:0002120	Cerebral cortical atrophy
OMIM:613744	AP4S1	11154	HP:0000280	Coarse facial features
OMIM:613744	AP4S1	11154	HP:0000322	Short philtrum
OMIM:613744	AP4S1	11154	HP:0001272	Cerebellar atrophy
OMIM:613744	AP4S1	11154	HP:0010864	Intellectual disability, severe
OMIM:613744	AP4S1	11154	HP:0001347	Hyperreflexia
OMIM:613744	AP4S1	11154	HP:0002307	Drooling
OMIM:613744	AP4S1	11154	HP:0000431	Wide nasal bridge
OMIM:613744	AP4S1	11154	HP:0001319	Neonatal hypotonia
OMIM:613744	AP4S1	11154	HP:0003189	Long nose
OMIM:613744	AP4S1	11154	HP:0000307	Pointed chin
OMIM:613744	AP4S1	11154	HP:0003577	Congenital onset
OMIM:613744	AP4S1	11154	HP:0000414	Bulbous nose
OMIM:613744	AP4S1	11154	HP:0000252	Microcephaly
OMIM:613744	AP4S1	11154	HP:0001263	Global developmental delay
OMIM:613744	AP4S1	11154	HP:0000341	Narrow forehead
OMIM:613744	AP4S1	11154	HP:0001371	Flexion contracture
OMIM:613744	AP4S1	11154	HP:0000007	Autosomal recessive inheritance
OMIM:613744	AP4S1	11154	HP:0001258	Spastic paraplegia
OMIM:613744	AP4S1	11154	HP:0000154	Wide mouth
OMIM:613744	AP4S1	11154	HP:0001762	Talipes equinovarus
OMIM:613744	AP4S1	11154	HP:0002119	Ventriculomegaly
OMIM:613744	AP4S1	11154	HP:0000639	Nystagmus
OMIM:613744	AP4S1	11154	HP:0002510	Spastic tetraplegia
OMIM:613744	AP4S1	11154	HP:0000494	Downslanted palpebral fissures
OMIM:613744	AP4S1	11154	HP:0004322	Short stature
OMIM:613744	AP4S1	11154	HP:0000275	Narrow face
OMIM:613744	AP4S1	11154	HP:0001250	Seizures
OMIM:613744	AP4E1	23431	HP:0003487	Babinski sign
OMIM:613744	AP4E1	23431	HP:0002120	Cerebral cortical atrophy
OMIM:613744	AP4E1	23431	HP:0000280	Coarse facial features
OMIM:613744	AP4E1	23431	HP:0000322	Short philtrum
OMIM:613744	AP4E1	23431	HP:0001272	Cerebellar atrophy
OMIM:613744	AP4E1	23431	HP:0010864	Intellectual disability, severe
OMIM:613744	AP4E1	23431	HP:0001347	Hyperreflexia
OMIM:613744	AP4E1	23431	HP:0002307	Drooling
OMIM:613744	AP4E1	23431	HP:0000431	Wide nasal bridge
OMIM:613744	AP4E1	23431	HP:0001319	Neonatal hypotonia
OMIM:613744	AP4E1	23431	HP:0003189	Long nose
OMIM:613744	AP4E1	23431	HP:0000307	Pointed chin
OMIM:613744	AP4E1	23431	HP:0003577	Congenital onset
OMIM:613744	AP4E1	23431	HP:0000414	Bulbous nose
OMIM:613744	AP4E1	23431	HP:0000252	Microcephaly
OMIM:613744	AP4E1	23431	HP:0001263	Global developmental delay
OMIM:613744	AP4E1	23431	HP:0000341	Narrow forehead
OMIM:613744	AP4E1	23431	HP:0001371	Flexion contracture
OMIM:613744	AP4E1	23431	HP:0000007	Autosomal recessive inheritance
OMIM:613744	AP4E1	23431	HP:0001258	Spastic paraplegia
OMIM:613744	AP4E1	23431	HP:0000154	Wide mouth
OMIM:613744	AP4E1	23431	HP:0001762	Talipes equinovarus
OMIM:613744	AP4E1	23431	HP:0002119	Ventriculomegaly
OMIM:613744	AP4E1	23431	HP:0000639	Nystagmus
OMIM:613744	AP4E1	23431	HP:0002510	Spastic tetraplegia
OMIM:613744	AP4E1	23431	HP:0000494	Downslanted palpebral fissures
OMIM:613744	AP4E1	23431	HP:0004322	Short stature
OMIM:613744	AP4E1	23431	HP:0000275	Narrow face
OMIM:613744	AP4E1	23431	HP:0001250	Seizures
OMIM:613744	AP4M1	9179	HP:0003487	Babinski sign
OMIM:613744	AP4M1	9179	HP:0002120	Cerebral cortical atrophy
OMIM:613744	AP4M1	9179	HP:0000280	Coarse facial features
OMIM:613744	AP4M1	9179	HP:0000322	Short philtrum
OMIM:613744	AP4M1	9179	HP:0001272	Cerebellar atrophy
OMIM:613744	AP4M1	9179	HP:0010864	Intellectual disability, severe
OMIM:613744	AP4M1	9179	HP:0001347	Hyperreflexia
OMIM:613744	AP4M1	9179	HP:0002307	Drooling
OMIM:613744	AP4M1	9179	HP:0000431	Wide nasal bridge
OMIM:613744	AP4M1	9179	HP:0001319	Neonatal hypotonia
OMIM:613744	AP4M1	9179	HP:0003189	Long nose
OMIM:613744	AP4M1	9179	HP:0000307	Pointed chin
OMIM:613744	AP4M1	9179	HP:0003577	Congenital onset
OMIM:613744	AP4M1	9179	HP:0000414	Bulbous nose
OMIM:613744	AP4M1	9179	HP:0000252	Microcephaly
OMIM:613744	AP4M1	9179	HP:0001263	Global developmental delay
OMIM:613744	AP4M1	9179	HP:0000341	Narrow forehead
OMIM:613744	AP4M1	9179	HP:0001371	Flexion contracture
OMIM:613744	AP4M1	9179	HP:0000007	Autosomal recessive inheritance
OMIM:613744	AP4M1	9179	HP:0001258	Spastic paraplegia
OMIM:613744	AP4M1	9179	HP:0000154	Wide mouth
OMIM:613744	AP4M1	9179	HP:0001762	Talipes equinovarus
OMIM:613744	AP4M1	9179	HP:0002119	Ventriculomegaly
OMIM:613744	AP4M1	9179	HP:0000639	Nystagmus
OMIM:613744	AP4M1	9179	HP:0002510	Spastic tetraplegia
OMIM:613744	AP4M1	9179	HP:0000494	Downslanted palpebral fissures
OMIM:613744	AP4M1	9179	HP:0004322	Short stature
OMIM:613744	AP4M1	9179	HP:0000275	Narrow face
OMIM:613744	AP4M1	9179	HP:0001250	Seizures
OMIM:613744	AP4B1	10717	HP:0003487	Babinski sign
OMIM:613744	AP4B1	10717	HP:0002120	Cerebral cortical atrophy
OMIM:613744	AP4B1	10717	HP:0000280	Coarse facial features
OMIM:613744	AP4B1	10717	HP:0000322	Short philtrum
OMIM:613744	AP4B1	10717	HP:0001272	Cerebellar atrophy
OMIM:613744	AP4B1	10717	HP:0010864	Intellectual disability, severe
OMIM:613744	AP4B1	10717	HP:0001347	Hyperreflexia
OMIM:613744	AP4B1	10717	HP:0002307	Drooling
OMIM:613744	AP4B1	10717	HP:0000431	Wide nasal bridge
OMIM:613744	AP4B1	10717	HP:0001319	Neonatal hypotonia
OMIM:613744	AP4B1	10717	HP:0003189	Long nose
OMIM:613744	AP4B1	10717	HP:0000307	Pointed chin
OMIM:613744	AP4B1	10717	HP:0003577	Congenital onset
OMIM:613744	AP4B1	10717	HP:0000414	Bulbous nose
OMIM:613744	AP4B1	10717	HP:0000252	Microcephaly
OMIM:613744	AP4B1	10717	HP:0001263	Global developmental delay
OMIM:613744	AP4B1	10717	HP:0000341	Narrow forehead
OMIM:613744	AP4B1	10717	HP:0001371	Flexion contracture
OMIM:613744	AP4B1	10717	HP:0000007	Autosomal recessive inheritance
OMIM:613744	AP4B1	10717	HP:0001258	Spastic paraplegia
OMIM:613744	AP4B1	10717	HP:0000154	Wide mouth
OMIM:613744	AP4B1	10717	HP:0001762	Talipes equinovarus
OMIM:613744	AP4B1	10717	HP:0002119	Ventriculomegaly
OMIM:613744	AP4B1	10717	HP:0000639	Nystagmus
OMIM:613744	AP4B1	10717	HP:0002510	Spastic tetraplegia
OMIM:613744	AP4B1	10717	HP:0000494	Downslanted palpebral fissures
OMIM:613744	AP4B1	10717	HP:0004322	Short stature
OMIM:613744	AP4B1	10717	HP:0000275	Narrow face
OMIM:613744	AP4B1	10717	HP:0001250	Seizures
OMIM:273800	ITGA2B	3674	HP:0000979	Purpura
OMIM:273800	ITGA2B	3674	HP:0000421	Epistaxis
OMIM:273800	ITGA2B	3674	HP:0000007	Autosomal recessive inheritance
OMIM:273800	ITGA2B	3674	HP:0002170	Intracranial hemorrhage
OMIM:273800	ITGA2B	3674	HP:0003010	Prolonged bleeding time
OMIM:273800	ITGA2B	3674	HP:0002239	Gastrointestinal hemorrhage
OMIM:273800	ITGA2B	3674	HP:0003540	Impaired platelet aggregation
OMIM:273800	ITGA2B	3674	HP:0000225	Gingival bleeding
OMIM:273800	ITGA2B	3674	HP:0000978	Bruising susceptibility
OMIM:273800	ITGB3	3690	HP:0000979	Purpura
OMIM:273800	ITGB3	3690	HP:0000421	Epistaxis
OMIM:273800	ITGB3	3690	HP:0000007	Autosomal recessive inheritance
OMIM:273800	ITGB3	3690	HP:0002170	Intracranial hemorrhage
OMIM:273800	ITGB3	3690	HP:0003010	Prolonged bleeding time
OMIM:273800	ITGB3	3690	HP:0002239	Gastrointestinal hemorrhage
OMIM:273800	ITGB3	3690	HP:0003540	Impaired platelet aggregation
OMIM:273800	ITGB3	3690	HP:0000225	Gingival bleeding
OMIM:273800	ITGB3	3690	HP:0000978	Bruising susceptibility
OMIM:610356	KCNV2	169522	HP:0000486	Strabismus
OMIM:610356	KCNV2	169522	HP:0000575	Scotoma
OMIM:610356	KCNV2	169522	HP:0000662	Nyctalopia
OMIM:610356	KCNV2	169522	HP:0000545	Myopia
OMIM:610356	KCNV2	169522	HP:0000483	Astigmatism
OMIM:610356	KCNV2	169522	HP:0000613	Photophobia
OMIM:610356	KCNV2	169522	HP:0000007	Autosomal recessive inheritance
OMIM:616211	KCNB1	3745	HP:0000648	Optic atrophy
OMIM:616211	KCNB1	3745	HP:0000546	Retinal degeneration
OMIM:616211	KCNB1	3745	HP:0001347	Hyperreflexia
OMIM:616211	KCNB1	3745	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	KCNB1	3745	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	KCNB1	3745	HP:0002059	Cerebral atrophy
OMIM:616211	KCNB1	3745	HP:0012448	Delayed myelination
OMIM:616211	KCNB1	3745	HP:0000512	Abnormal electroretinogram
OMIM:616211	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:616211	KCNB1	3745	HP:0000252	Microcephaly
OMIM:616211	KCNB1	3745	HP:0002063	Rigidity
OMIM:616211	KCNB1	3745	HP:0001250	Seizures
OMIM:616211	KCNB1	3745	HP:0001257	Spasticity
OMIM:616211	KCNB1	3745	HP:0001263	Global developmental delay
OMIM:616211	PIGQ	9091	HP:0000648	Optic atrophy
OMIM:616211	PIGQ	9091	HP:0000546	Retinal degeneration
OMIM:616211	PIGQ	9091	HP:0001347	Hyperreflexia
OMIM:616211	PIGQ	9091	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	PIGQ	9091	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	PIGQ	9091	HP:0002059	Cerebral atrophy
OMIM:616211	PIGQ	9091	HP:0012448	Delayed myelination
OMIM:616211	PIGQ	9091	HP:0000512	Abnormal electroretinogram
OMIM:616211	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:616211	PIGQ	9091	HP:0000252	Microcephaly
OMIM:616211	PIGQ	9091	HP:0002063	Rigidity
OMIM:616211	PIGQ	9091	HP:0001250	Seizures
OMIM:616211	PIGQ	9091	HP:0001257	Spasticity
OMIM:616211	PIGQ	9091	HP:0001263	Global developmental delay
OMIM:616211	SLC25A22	79751	HP:0000648	Optic atrophy
OMIM:616211	SLC25A22	79751	HP:0000546	Retinal degeneration
OMIM:616211	SLC25A22	79751	HP:0001347	Hyperreflexia
OMIM:616211	SLC25A22	79751	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	SLC25A22	79751	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	SLC25A22	79751	HP:0002059	Cerebral atrophy
OMIM:616211	SLC25A22	79751	HP:0012448	Delayed myelination
OMIM:616211	SLC25A22	79751	HP:0000512	Abnormal electroretinogram
OMIM:616211	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:616211	SLC25A22	79751	HP:0000252	Microcephaly
OMIM:616211	SLC25A22	79751	HP:0002063	Rigidity
OMIM:616211	SLC25A22	79751	HP:0001250	Seizures
OMIM:616211	SLC25A22	79751	HP:0001257	Spasticity
OMIM:616211	SLC25A22	79751	HP:0001263	Global developmental delay
OMIM:616211	CDKL5	6792	HP:0000648	Optic atrophy
OMIM:616211	CDKL5	6792	HP:0000546	Retinal degeneration
OMIM:616211	CDKL5	6792	HP:0001347	Hyperreflexia
OMIM:616211	CDKL5	6792	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	CDKL5	6792	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	CDKL5	6792	HP:0002059	Cerebral atrophy
OMIM:616211	CDKL5	6792	HP:0012448	Delayed myelination
OMIM:616211	CDKL5	6792	HP:0000512	Abnormal electroretinogram
OMIM:616211	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:616211	CDKL5	6792	HP:0000252	Microcephaly
OMIM:616211	CDKL5	6792	HP:0002063	Rigidity
OMIM:616211	CDKL5	6792	HP:0001250	Seizures
OMIM:616211	CDKL5	6792	HP:0001257	Spasticity
OMIM:616211	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:616211	KCNQ2	3785	HP:0000648	Optic atrophy
OMIM:616211	KCNQ2	3785	HP:0000546	Retinal degeneration
OMIM:616211	KCNQ2	3785	HP:0001347	Hyperreflexia
OMIM:616211	KCNQ2	3785	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	KCNQ2	3785	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	KCNQ2	3785	HP:0002059	Cerebral atrophy
OMIM:616211	KCNQ2	3785	HP:0012448	Delayed myelination
OMIM:616211	KCNQ2	3785	HP:0000512	Abnormal electroretinogram
OMIM:616211	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:616211	KCNQ2	3785	HP:0000252	Microcephaly
OMIM:616211	KCNQ2	3785	HP:0002063	Rigidity
OMIM:616211	KCNQ2	3785	HP:0001250	Seizures
OMIM:616211	KCNQ2	3785	HP:0001257	Spasticity
OMIM:616211	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:616211	SLC13A5	284111	HP:0000648	Optic atrophy
OMIM:616211	SLC13A5	284111	HP:0000546	Retinal degeneration
OMIM:616211	SLC13A5	284111	HP:0001347	Hyperreflexia
OMIM:616211	SLC13A5	284111	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	SLC13A5	284111	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	SLC13A5	284111	HP:0002059	Cerebral atrophy
OMIM:616211	SLC13A5	284111	HP:0012448	Delayed myelination
OMIM:616211	SLC13A5	284111	HP:0000512	Abnormal electroretinogram
OMIM:616211	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:616211	SLC13A5	284111	HP:0000252	Microcephaly
OMIM:616211	SLC13A5	284111	HP:0002063	Rigidity
OMIM:616211	SLC13A5	284111	HP:0001250	Seizures
OMIM:616211	SLC13A5	284111	HP:0001257	Spasticity
OMIM:616211	SLC13A5	284111	HP:0001263	Global developmental delay
OMIM:616211	SIK1	150094	HP:0000648	Optic atrophy
OMIM:616211	SIK1	150094	HP:0000546	Retinal degeneration
OMIM:616211	SIK1	150094	HP:0001347	Hyperreflexia
OMIM:616211	SIK1	150094	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	SIK1	150094	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	SIK1	150094	HP:0002059	Cerebral atrophy
OMIM:616211	SIK1	150094	HP:0012448	Delayed myelination
OMIM:616211	SIK1	150094	HP:0000512	Abnormal electroretinogram
OMIM:616211	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:616211	SIK1	150094	HP:0000252	Microcephaly
OMIM:616211	SIK1	150094	HP:0002063	Rigidity
OMIM:616211	SIK1	150094	HP:0001250	Seizures
OMIM:616211	SIK1	150094	HP:0001257	Spasticity
OMIM:616211	SIK1	150094	HP:0001263	Global developmental delay
OMIM:616211	HCN1	348980	HP:0000648	Optic atrophy
OMIM:616211	HCN1	348980	HP:0000546	Retinal degeneration
OMIM:616211	HCN1	348980	HP:0001347	Hyperreflexia
OMIM:616211	HCN1	348980	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	HCN1	348980	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	HCN1	348980	HP:0002059	Cerebral atrophy
OMIM:616211	HCN1	348980	HP:0012448	Delayed myelination
OMIM:616211	HCN1	348980	HP:0000512	Abnormal electroretinogram
OMIM:616211	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:616211	HCN1	348980	HP:0000252	Microcephaly
OMIM:616211	HCN1	348980	HP:0002063	Rigidity
OMIM:616211	HCN1	348980	HP:0001250	Seizures
OMIM:616211	HCN1	348980	HP:0001257	Spasticity
OMIM:616211	HCN1	348980	HP:0001263	Global developmental delay
OMIM:616211	PNKP	11284	HP:0000648	Optic atrophy
OMIM:616211	PNKP	11284	HP:0000546	Retinal degeneration
OMIM:616211	PNKP	11284	HP:0001347	Hyperreflexia
OMIM:616211	PNKP	11284	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	PNKP	11284	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	PNKP	11284	HP:0002059	Cerebral atrophy
OMIM:616211	PNKP	11284	HP:0012448	Delayed myelination
OMIM:616211	PNKP	11284	HP:0000512	Abnormal electroretinogram
OMIM:616211	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:616211	PNKP	11284	HP:0000252	Microcephaly
OMIM:616211	PNKP	11284	HP:0002063	Rigidity
OMIM:616211	PNKP	11284	HP:0001250	Seizures
OMIM:616211	PNKP	11284	HP:0001257	Spasticity
OMIM:616211	PNKP	11284	HP:0001263	Global developmental delay
OMIM:616211	SCN2A	6326	HP:0000648	Optic atrophy
OMIM:616211	SCN2A	6326	HP:0000546	Retinal degeneration
OMIM:616211	SCN2A	6326	HP:0001347	Hyperreflexia
OMIM:616211	SCN2A	6326	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	SCN2A	6326	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	SCN2A	6326	HP:0002059	Cerebral atrophy
OMIM:616211	SCN2A	6326	HP:0012448	Delayed myelination
OMIM:616211	SCN2A	6326	HP:0000512	Abnormal electroretinogram
OMIM:616211	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:616211	SCN2A	6326	HP:0000252	Microcephaly
OMIM:616211	SCN2A	6326	HP:0002063	Rigidity
OMIM:616211	SCN2A	6326	HP:0001250	Seizures
OMIM:616211	SCN2A	6326	HP:0001257	Spasticity
OMIM:616211	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:616211	GNAO1	2775	HP:0000648	Optic atrophy
OMIM:616211	GNAO1	2775	HP:0000546	Retinal degeneration
OMIM:616211	GNAO1	2775	HP:0001347	Hyperreflexia
OMIM:616211	GNAO1	2775	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	GNAO1	2775	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	GNAO1	2775	HP:0002059	Cerebral atrophy
OMIM:616211	GNAO1	2775	HP:0012448	Delayed myelination
OMIM:616211	GNAO1	2775	HP:0000512	Abnormal electroretinogram
OMIM:616211	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:616211	GNAO1	2775	HP:0000252	Microcephaly
OMIM:616211	GNAO1	2775	HP:0002063	Rigidity
OMIM:616211	GNAO1	2775	HP:0001250	Seizures
OMIM:616211	GNAO1	2775	HP:0001257	Spasticity
OMIM:616211	GNAO1	2775	HP:0001263	Global developmental delay
OMIM:616211	NECAP1	25977	HP:0000648	Optic atrophy
OMIM:616211	NECAP1	25977	HP:0000546	Retinal degeneration
OMIM:616211	NECAP1	25977	HP:0001347	Hyperreflexia
OMIM:616211	NECAP1	25977	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	NECAP1	25977	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	NECAP1	25977	HP:0002059	Cerebral atrophy
OMIM:616211	NECAP1	25977	HP:0012448	Delayed myelination
OMIM:616211	NECAP1	25977	HP:0000512	Abnormal electroretinogram
OMIM:616211	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:616211	NECAP1	25977	HP:0000252	Microcephaly
OMIM:616211	NECAP1	25977	HP:0002063	Rigidity
OMIM:616211	NECAP1	25977	HP:0001250	Seizures
OMIM:616211	NECAP1	25977	HP:0001257	Spasticity
OMIM:616211	NECAP1	25977	HP:0001263	Global developmental delay
OMIM:616211	ARX	170302	HP:0000648	Optic atrophy
OMIM:616211	ARX	170302	HP:0000546	Retinal degeneration
OMIM:616211	ARX	170302	HP:0001347	Hyperreflexia
OMIM:616211	ARX	170302	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	ARX	170302	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	ARX	170302	HP:0002059	Cerebral atrophy
OMIM:616211	ARX	170302	HP:0012448	Delayed myelination
OMIM:616211	ARX	170302	HP:0000512	Abnormal electroretinogram
OMIM:616211	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:616211	ARX	170302	HP:0000252	Microcephaly
OMIM:616211	ARX	170302	HP:0002063	Rigidity
OMIM:616211	ARX	170302	HP:0001250	Seizures
OMIM:616211	ARX	170302	HP:0001257	Spasticity
OMIM:616211	ARX	170302	HP:0001263	Global developmental delay
OMIM:616211	STXBP1	6812	HP:0000648	Optic atrophy
OMIM:616211	STXBP1	6812	HP:0000546	Retinal degeneration
OMIM:616211	STXBP1	6812	HP:0001347	Hyperreflexia
OMIM:616211	STXBP1	6812	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	STXBP1	6812	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	STXBP1	6812	HP:0002059	Cerebral atrophy
OMIM:616211	STXBP1	6812	HP:0012448	Delayed myelination
OMIM:616211	STXBP1	6812	HP:0000512	Abnormal electroretinogram
OMIM:616211	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:616211	STXBP1	6812	HP:0000252	Microcephaly
OMIM:616211	STXBP1	6812	HP:0002063	Rigidity
OMIM:616211	STXBP1	6812	HP:0001250	Seizures
OMIM:616211	STXBP1	6812	HP:0001257	Spasticity
OMIM:616211	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:616211	WWOX	51741	HP:0000648	Optic atrophy
OMIM:616211	WWOX	51741	HP:0000546	Retinal degeneration
OMIM:616211	WWOX	51741	HP:0001347	Hyperreflexia
OMIM:616211	WWOX	51741	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	WWOX	51741	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	WWOX	51741	HP:0002059	Cerebral atrophy
OMIM:616211	WWOX	51741	HP:0012448	Delayed myelination
OMIM:616211	WWOX	51741	HP:0000512	Abnormal electroretinogram
OMIM:616211	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:616211	WWOX	51741	HP:0000252	Microcephaly
OMIM:616211	WWOX	51741	HP:0002063	Rigidity
OMIM:616211	WWOX	51741	HP:0001250	Seizures
OMIM:616211	WWOX	51741	HP:0001257	Spasticity
OMIM:616211	WWOX	51741	HP:0001263	Global developmental delay
OMIM:616211	CASK	8573	HP:0000648	Optic atrophy
OMIM:616211	CASK	8573	HP:0000546	Retinal degeneration
OMIM:616211	CASK	8573	HP:0001347	Hyperreflexia
OMIM:616211	CASK	8573	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	CASK	8573	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	CASK	8573	HP:0002059	Cerebral atrophy
OMIM:616211	CASK	8573	HP:0012448	Delayed myelination
OMIM:616211	CASK	8573	HP:0000512	Abnormal electroretinogram
OMIM:616211	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:616211	CASK	8573	HP:0000252	Microcephaly
OMIM:616211	CASK	8573	HP:0002063	Rigidity
OMIM:616211	CASK	8573	HP:0001250	Seizures
OMIM:616211	CASK	8573	HP:0001257	Spasticity
OMIM:616211	CASK	8573	HP:0001263	Global developmental delay
OMIM:616211	SCN8A	6334	HP:0000648	Optic atrophy
OMIM:616211	SCN8A	6334	HP:0000546	Retinal degeneration
OMIM:616211	SCN8A	6334	HP:0001347	Hyperreflexia
OMIM:616211	SCN8A	6334	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	SCN8A	6334	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	SCN8A	6334	HP:0002059	Cerebral atrophy
OMIM:616211	SCN8A	6334	HP:0012448	Delayed myelination
OMIM:616211	SCN8A	6334	HP:0000512	Abnormal electroretinogram
OMIM:616211	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:616211	SCN8A	6334	HP:0000252	Microcephaly
OMIM:616211	SCN8A	6334	HP:0002063	Rigidity
OMIM:616211	SCN8A	6334	HP:0001250	Seizures
OMIM:616211	SCN8A	6334	HP:0001257	Spasticity
OMIM:616211	SCN8A	6334	HP:0001263	Global developmental delay
OMIM:616211	DNM1	1759	HP:0000648	Optic atrophy
OMIM:616211	DNM1	1759	HP:0000546	Retinal degeneration
OMIM:616211	DNM1	1759	HP:0001347	Hyperreflexia
OMIM:616211	DNM1	1759	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616211	DNM1	1759	HP:0008936	Muscular hypotonia of the trunk
OMIM:616211	DNM1	1759	HP:0002059	Cerebral atrophy
OMIM:616211	DNM1	1759	HP:0012448	Delayed myelination
OMIM:616211	DNM1	1759	HP:0000512	Abnormal electroretinogram
OMIM:616211	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:616211	DNM1	1759	HP:0000252	Microcephaly
OMIM:616211	DNM1	1759	HP:0002063	Rigidity
OMIM:616211	DNM1	1759	HP:0001250	Seizures
OMIM:616211	DNM1	1759	HP:0001257	Spasticity
OMIM:616211	DNM1	1759	HP:0001263	Global developmental delay
OMIM:151400	ARL11	115761	HP:0001428	Somatic mutation
OMIM:151400	ARL11	115761	HP:0005550	Chronic lymphatic leukemia
OMIM:151400	ARL11	115761	HP:0001444	Autosomal dominant somatic cell mutation
OMIM:151400	ARL11	115761	HP:0005374	Cellular immunodeficiency
OMIM:151400	CCND1	595	HP:0001428	Somatic mutation
OMIM:151400	CCND1	595	HP:0005550	Chronic lymphatic leukemia
OMIM:151400	CCND1	595	HP:0001444	Autosomal dominant somatic cell mutation
OMIM:151400	CCND1	595	HP:0005374	Cellular immunodeficiency
OMIM:151400	TP53	7157	HP:0001428	Somatic mutation
OMIM:151400	TP53	7157	HP:0005550	Chronic lymphatic leukemia
OMIM:151400	TP53	7157	HP:0001444	Autosomal dominant somatic cell mutation
OMIM:151400	TP53	7157	HP:0005374	Cellular immunodeficiency
OMIM:151400	ATM	472	HP:0001428	Somatic mutation
OMIM:151400	ATM	472	HP:0005550	Chronic lymphatic leukemia
OMIM:151400	ATM	472	HP:0001444	Autosomal dominant somatic cell mutation
OMIM:151400	ATM	472	HP:0005374	Cellular immunodeficiency
OMIM:151400	POT1	25913	HP:0001428	Somatic mutation
OMIM:151400	POT1	25913	HP:0005550	Chronic lymphatic leukemia
OMIM:151400	POT1	25913	HP:0001444	Autosomal dominant somatic cell mutation
OMIM:151400	POT1	25913	HP:0005374	Cellular immunodeficiency
OMIM:151400	IGHG1	3500	HP:0001428	Somatic mutation
OMIM:151400	IGHG1	3500	HP:0005550	Chronic lymphatic leukemia
OMIM:151400	IGHG1	3500	HP:0001444	Autosomal dominant somatic cell mutation
OMIM:151400	IGHG1	3500	HP:0005374	Cellular immunodeficiency
OMIM:215470	PNPLA6	10908	HP:0001284	Areflexia
OMIM:215470	PNPLA6	10908	HP:0003693	Distal amyotrophy
OMIM:215470	PNPLA6	10908	HP:0001251	Ataxia
OMIM:215470	PNPLA6	10908	HP:0003676	Progressive
OMIM:215470	PNPLA6	10908	HP:0000529	Progressive visual loss
OMIM:215470	PNPLA6	10908	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:215470	PNPLA6	10908	HP:0001257	Spasticity
OMIM:215470	PNPLA6	10908	HP:0000078	Abnormality of the genital system
OMIM:215470	PNPLA6	10908	HP:0002311	Incoordination
OMIM:215470	PNPLA6	10908	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215470	PNPLA6	10908	HP:0001272	Cerebellar atrophy
OMIM:215470	PNPLA6	10908	HP:0007703	Abnormality of retinal pigmentation
OMIM:215470	PNPLA6	10908	HP:0003621	Juvenile onset
OMIM:215470	PNPLA6	10908	HP:0001265	Hyporeflexia
OMIM:215470	PNPLA6	10908	HP:0000613	Photophobia
OMIM:215470	PNPLA6	10908	HP:0000007	Autosomal recessive inheritance
OMIM:215470	PNPLA6	10908	HP:0000556	Retinal dystrophy
OMIM:215470	PNPLA6	10908	HP:0002127	Abnormal upper motor neuron morphology
OMIM:608643	DDC	1644	HP:0008936	Muscular hypotonia of the trunk
OMIM:608643	DDC	1644	HP:0002509	Limb hypertonia
OMIM:608643	DDC	1644	HP:0001347	Hyperreflexia
OMIM:608643	DDC	1644	HP:0008872	Feeding difficulties in infancy
OMIM:608643	DDC	1644	HP:0002014	Diarrhea
OMIM:608643	DDC	1644	HP:0001336	Myoclonus
OMIM:608643	DDC	1644	HP:0003593	Infantile onset
OMIM:608643	DDC	1644	HP:0003487	Babinski sign
OMIM:608643	DDC	1644	HP:0001263	Global developmental delay
OMIM:608643	DDC	1644	HP:0000975	Hyperhidrosis
OMIM:608643	DDC	1644	HP:0000271	Abnormality of the face
OMIM:608643	DDC	1644	HP:0000616	Miosis
OMIM:608643	DDC	1644	HP:0002451	Limb dystonia
OMIM:608643	DDC	1644	HP:0000007	Autosomal recessive inheritance
OMIM:608643	DDC	1644	HP:0001266	Choreoathetosis
OMIM:608643	DDC	1644	HP:0000508	Ptosis
OMIM:608643	DDC	1644	HP:0002019	Constipation
OMIM:608643	DDC	1644	HP:0002020	Gastroesophageal reflux
OMIM:608643	DDC	1644	HP:0002360	Sleep disturbance
OMIM:608643	DDC	1644	HP:0000712	Emotional lability
OMIM:608643	DDC	1644	HP:0000737	Irritability
OMIM:309900	IDS	3423	HP:0000280	Coarse facial features
OMIM:309900	IDS	3423	HP:0001635	Congestive heart failure
OMIM:309900	IDS	3423	HP:0010978	Abnormality of immune system physiology
OMIM:309900	IDS	3423	HP:0000256	Macrocephaly
OMIM:309900	IDS	3423	HP:0000303	Mandibular prognathia
OMIM:309900	IDS	3423	HP:0002240	Hepatomegaly
OMIM:309900	IDS	3423	HP:0003272	Abnormality of the hip bone
OMIM:309900	IDS	3423	HP:0002014	Diarrhea
OMIM:309900	IDS	3423	HP:0001171	Split hand
OMIM:309900	IDS	3423	HP:0001626	Abnormality of the cardiovascular system
OMIM:309900	IDS	3423	HP:0001744	Splenomegaly
OMIM:309900	IDS	3423	HP:0000365	Hearing impairment
OMIM:309900	IDS	3423	HP:0001371	Flexion contracture
OMIM:309900	IDS	3423	HP:0000158	Macroglossia
OMIM:309900	IDS	3423	HP:0000233	Thin vermilion border
OMIM:309900	IDS	3423	HP:0001609	Hoarse voice
OMIM:309900	IDS	3423	HP:0000023	Inguinal hernia
OMIM:309900	IDS	3423	HP:0000470	Short neck
OMIM:309900	IDS	3423	HP:0001537	Umbilical hernia
OMIM:309900	IDS	3423	HP:0000157	Abnormality of the tongue
OMIM:309900	IDS	3423	HP:0000268	Dolichocephaly
OMIM:309900	IDS	3423	HP:0004322	Short stature
OMIM:309900	IDS	3423	HP:0000998	Hypertrichosis
OMIM:309900	IDS	3423	HP:0005280	Depressed nasal bridge
OMIM:309900	IDS	3423	HP:0002180	Neurodegeneration
OMIM:309900	IDS	3423	HP:0007703	Abnormality of retinal pigmentation
OMIM:309900	IDS	3423	HP:0002159	Heparan sulfate excretion in urine
OMIM:309900	IDS	3423	HP:0002187	Intellectual disability, profound
OMIM:309900	IDS	3423	HP:0002808	Kyphosis
OMIM:309900	IDS	3423	HP:0001072	Thickened skin
OMIM:309900	IDS	3423	HP:0001761	Pes cavus
OMIM:309900	IDS	3423	HP:0100543	Cognitive impairment
OMIM:309900	IDS	3423	HP:0000508	Ptosis
OMIM:309900	IDS	3423	HP:0000648	Optic atrophy
OMIM:309900	IDS	3423	HP:0000684	Delayed eruption of teeth
OMIM:309900	IDS	3423	HP:0002777	Tracheal stenosis
OMIM:309900	IDS	3423	HP:0001419	X-linked recessive inheritance
OMIM:309900	IDS	3423	HP:0000403	Recurrent otitis media
OMIM:309900	IDS	3423	HP:0000179	Thick lower lip vermilion
OMIM:309900	IDS	3423	HP:0000457	Depressed nasal ridge
OMIM:309900	IDS	3423	HP:0000943	Dysostosis multiplex
OMIM:309900	IDS	3423	HP:0000238	Hydrocephalus
OMIM:309900	IDS	3423	HP:0000687	Widely spaced teeth
OMIM:309900	IDS	3423	HP:0002024	Malabsorption
OMIM:309900	IDS	3423	HP:0001250	Seizures
OMIM:309900	IDS	3423	HP:0001654	Abnormality of the heart valves
OMIM:309900	IDS	3423	HP:0000767	Pectus excavatum
OMIM:309900	IDS	3423	HP:0000708	Behavioral abnormality
OMIM:309900	IDS	3423	HP:0001601	Laryngomalacia
OMIM:309900	IDS	3423	HP:0001376	Limitation of joint mobility
OMIM:309900	IDS	3423	HP:0003510	Severe short stature
OMIM:309900	IDS	3423	HP:0002099	Asthma
OMIM:309900	IDS	3423	HP:0000164	Abnormality of the teeth
OMIM:309900	IDS	3423	HP:0002786	Tracheobronchomalacia
OMIM:616158	PURA	5813	HP:0003429	CNS hypomyelination
OMIM:616158	PURA	5813	HP:0011220	Prominent forehead
OMIM:616158	PURA	5813	HP:0000639	Nystagmus
OMIM:616158	PURA	5813	HP:0001250	Seizures
OMIM:616158	PURA	5813	HP:0000486	Strabismus
OMIM:616158	PURA	5813	HP:0001336	Myoclonus
OMIM:616158	PURA	5813	HP:0000194	Open mouth
OMIM:616158	PURA	5813	HP:0001252	Muscular hypotonia
OMIM:616158	PURA	5813	HP:0011968	Feeding difficulties
OMIM:616158	PURA	5813	HP:0002093	Respiratory insufficiency
OMIM:616158	PURA	5813	HP:0001344	Absent speech
OMIM:616158	PURA	5813	HP:0000506	Telecanthus
OMIM:616158	PURA	5813	HP:0001263	Global developmental delay
OMIM:616158	PURA	5813	HP:0012448	Delayed myelination
OMIM:616158	PURA	5813	HP:0000218	High palate
OMIM:237900	UGT1A1	54658	HP:0000952	Jaundice
OMIM:237900	UGT1A1	54658	HP:0000007	Autosomal recessive inheritance
OMIM:614254	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:614254	MBD5	55777	HP:0001249	Intellectual disability
OMIM:614254	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:614254	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:614254	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:614254	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:614254	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:614254	KIF1A	547	HP:0001249	Intellectual disability
OMIM:614254	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:614254	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:614254	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:614254	TCF4	6925	HP:0001249	Intellectual disability
OMIM:614254	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:614254	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:614254	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:614254	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:614254	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:614254	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:614254	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:614254	CDH15	1013	HP:0001249	Intellectual disability
OMIM:614254	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:614254	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:614254	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:614254	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:614254	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:614254	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:614254	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:614254	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:614616	GUCY2C	2984	HP:0000006	Autosomal dominant inheritance
OMIM:614616	GUCY2C	2984	HP:0002027	Abdominal pain
OMIM:614616	GUCY2C	2984	HP:0002014	Diarrhea
OMIM:251200	MCPH1	79648	HP:0000252	Microcephaly
OMIM:251200	MCPH1	79648	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	MCPH1	79648	HP:0000007	Autosomal recessive inheritance
OMIM:251200	MCPH1	79648	HP:0001347	Hyperreflexia
OMIM:251200	MCPH1	79648	HP:0002119	Ventriculomegaly
OMIM:251200	MCPH1	79648	HP:0001250	Seizures
OMIM:251200	MCPH1	79648	HP:0000069	Abnormality of the ureter
OMIM:251200	MCPH1	79648	HP:0100543	Cognitive impairment
OMIM:251200	MCPH1	79648	HP:0004322	Short stature
OMIM:251200	MCPH1	79648	HP:0000340	Sloping forehead
OMIM:251200	MCPH1	79648	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	MCPH1	79648	HP:0000494	Downslanted palpebral fissures
OMIM:251200	MCPH1	79648	HP:0000233	Thin vermilion border
OMIM:251200	MCPH1	79648	HP:0001249	Intellectual disability
OMIM:251200	MCPH1	79648	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	ASPM	259266	HP:0000252	Microcephaly
OMIM:251200	ASPM	259266	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	ASPM	259266	HP:0000007	Autosomal recessive inheritance
OMIM:251200	ASPM	259266	HP:0001347	Hyperreflexia
OMIM:251200	ASPM	259266	HP:0002119	Ventriculomegaly
OMIM:251200	ASPM	259266	HP:0001250	Seizures
OMIM:251200	ASPM	259266	HP:0000069	Abnormality of the ureter
OMIM:251200	ASPM	259266	HP:0100543	Cognitive impairment
OMIM:251200	ASPM	259266	HP:0004322	Short stature
OMIM:251200	ASPM	259266	HP:0000340	Sloping forehead
OMIM:251200	ASPM	259266	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	ASPM	259266	HP:0000494	Downslanted palpebral fissures
OMIM:251200	ASPM	259266	HP:0000233	Thin vermilion border
OMIM:251200	ASPM	259266	HP:0001249	Intellectual disability
OMIM:251200	ASPM	259266	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:251200	ANKLE2	23141	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	ANKLE2	23141	HP:0000007	Autosomal recessive inheritance
OMIM:251200	ANKLE2	23141	HP:0001347	Hyperreflexia
OMIM:251200	ANKLE2	23141	HP:0002119	Ventriculomegaly
OMIM:251200	ANKLE2	23141	HP:0001250	Seizures
OMIM:251200	ANKLE2	23141	HP:0000069	Abnormality of the ureter
OMIM:251200	ANKLE2	23141	HP:0100543	Cognitive impairment
OMIM:251200	ANKLE2	23141	HP:0004322	Short stature
OMIM:251200	ANKLE2	23141	HP:0000340	Sloping forehead
OMIM:251200	ANKLE2	23141	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	ANKLE2	23141	HP:0000494	Downslanted palpebral fissures
OMIM:251200	ANKLE2	23141	HP:0000233	Thin vermilion border
OMIM:251200	ANKLE2	23141	HP:0001249	Intellectual disability
OMIM:251200	ANKLE2	23141	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	SASS6	163786	HP:0000252	Microcephaly
OMIM:251200	SASS6	163786	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	SASS6	163786	HP:0000007	Autosomal recessive inheritance
OMIM:251200	SASS6	163786	HP:0001347	Hyperreflexia
OMIM:251200	SASS6	163786	HP:0002119	Ventriculomegaly
OMIM:251200	SASS6	163786	HP:0001250	Seizures
OMIM:251200	SASS6	163786	HP:0000069	Abnormality of the ureter
OMIM:251200	SASS6	163786	HP:0100543	Cognitive impairment
OMIM:251200	SASS6	163786	HP:0004322	Short stature
OMIM:251200	SASS6	163786	HP:0000340	Sloping forehead
OMIM:251200	SASS6	163786	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	SASS6	163786	HP:0000494	Downslanted palpebral fissures
OMIM:251200	SASS6	163786	HP:0000233	Thin vermilion border
OMIM:251200	SASS6	163786	HP:0001249	Intellectual disability
OMIM:251200	SASS6	163786	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:251200	CDK5RAP2	55755	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	CDK5RAP2	55755	HP:0000007	Autosomal recessive inheritance
OMIM:251200	CDK5RAP2	55755	HP:0001347	Hyperreflexia
OMIM:251200	CDK5RAP2	55755	HP:0002119	Ventriculomegaly
OMIM:251200	CDK5RAP2	55755	HP:0001250	Seizures
OMIM:251200	CDK5RAP2	55755	HP:0000069	Abnormality of the ureter
OMIM:251200	CDK5RAP2	55755	HP:0100543	Cognitive impairment
OMIM:251200	CDK5RAP2	55755	HP:0004322	Short stature
OMIM:251200	CDK5RAP2	55755	HP:0000340	Sloping forehead
OMIM:251200	CDK5RAP2	55755	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	CDK5RAP2	55755	HP:0000494	Downslanted palpebral fissures
OMIM:251200	CDK5RAP2	55755	HP:0000233	Thin vermilion border
OMIM:251200	CDK5RAP2	55755	HP:0001249	Intellectual disability
OMIM:251200	CDK5RAP2	55755	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:251200	MFSD2A	84879	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	MFSD2A	84879	HP:0000007	Autosomal recessive inheritance
OMIM:251200	MFSD2A	84879	HP:0001347	Hyperreflexia
OMIM:251200	MFSD2A	84879	HP:0002119	Ventriculomegaly
OMIM:251200	MFSD2A	84879	HP:0001250	Seizures
OMIM:251200	MFSD2A	84879	HP:0000069	Abnormality of the ureter
OMIM:251200	MFSD2A	84879	HP:0100543	Cognitive impairment
OMIM:251200	MFSD2A	84879	HP:0004322	Short stature
OMIM:251200	MFSD2A	84879	HP:0000340	Sloping forehead
OMIM:251200	MFSD2A	84879	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	MFSD2A	84879	HP:0000494	Downslanted palpebral fissures
OMIM:251200	MFSD2A	84879	HP:0000233	Thin vermilion border
OMIM:251200	MFSD2A	84879	HP:0001249	Intellectual disability
OMIM:251200	MFSD2A	84879	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	CEP152	22995	HP:0000252	Microcephaly
OMIM:251200	CEP152	22995	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:251200	CEP152	22995	HP:0001347	Hyperreflexia
OMIM:251200	CEP152	22995	HP:0002119	Ventriculomegaly
OMIM:251200	CEP152	22995	HP:0001250	Seizures
OMIM:251200	CEP152	22995	HP:0000069	Abnormality of the ureter
OMIM:251200	CEP152	22995	HP:0100543	Cognitive impairment
OMIM:251200	CEP152	22995	HP:0004322	Short stature
OMIM:251200	CEP152	22995	HP:0000340	Sloping forehead
OMIM:251200	CEP152	22995	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	CEP152	22995	HP:0000494	Downslanted palpebral fissures
OMIM:251200	CEP152	22995	HP:0000233	Thin vermilion border
OMIM:251200	CEP152	22995	HP:0001249	Intellectual disability
OMIM:251200	CEP152	22995	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	WDR62	284403	HP:0000252	Microcephaly
OMIM:251200	WDR62	284403	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	WDR62	284403	HP:0000007	Autosomal recessive inheritance
OMIM:251200	WDR62	284403	HP:0001347	Hyperreflexia
OMIM:251200	WDR62	284403	HP:0002119	Ventriculomegaly
OMIM:251200	WDR62	284403	HP:0001250	Seizures
OMIM:251200	WDR62	284403	HP:0000069	Abnormality of the ureter
OMIM:251200	WDR62	284403	HP:0100543	Cognitive impairment
OMIM:251200	WDR62	284403	HP:0004322	Short stature
OMIM:251200	WDR62	284403	HP:0000340	Sloping forehead
OMIM:251200	WDR62	284403	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	WDR62	284403	HP:0000494	Downslanted palpebral fissures
OMIM:251200	WDR62	284403	HP:0000233	Thin vermilion border
OMIM:251200	WDR62	284403	HP:0001249	Intellectual disability
OMIM:251200	WDR62	284403	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	PHC1	1911	HP:0000252	Microcephaly
OMIM:251200	PHC1	1911	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	PHC1	1911	HP:0000007	Autosomal recessive inheritance
OMIM:251200	PHC1	1911	HP:0001347	Hyperreflexia
OMIM:251200	PHC1	1911	HP:0002119	Ventriculomegaly
OMIM:251200	PHC1	1911	HP:0001250	Seizures
OMIM:251200	PHC1	1911	HP:0000069	Abnormality of the ureter
OMIM:251200	PHC1	1911	HP:0100543	Cognitive impairment
OMIM:251200	PHC1	1911	HP:0004322	Short stature
OMIM:251200	PHC1	1911	HP:0000340	Sloping forehead
OMIM:251200	PHC1	1911	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	PHC1	1911	HP:0000494	Downslanted palpebral fissures
OMIM:251200	PHC1	1911	HP:0000233	Thin vermilion border
OMIM:251200	PHC1	1911	HP:0001249	Intellectual disability
OMIM:251200	PHC1	1911	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	CASC5	57082	HP:0000252	Microcephaly
OMIM:251200	CASC5	57082	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	CASC5	57082	HP:0000007	Autosomal recessive inheritance
OMIM:251200	CASC5	57082	HP:0001347	Hyperreflexia
OMIM:251200	CASC5	57082	HP:0002119	Ventriculomegaly
OMIM:251200	CASC5	57082	HP:0001250	Seizures
OMIM:251200	CASC5	57082	HP:0000069	Abnormality of the ureter
OMIM:251200	CASC5	57082	HP:0100543	Cognitive impairment
OMIM:251200	CASC5	57082	HP:0004322	Short stature
OMIM:251200	CASC5	57082	HP:0000340	Sloping forehead
OMIM:251200	CASC5	57082	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	CASC5	57082	HP:0000494	Downslanted palpebral fissures
OMIM:251200	CASC5	57082	HP:0000233	Thin vermilion border
OMIM:251200	CASC5	57082	HP:0001249	Intellectual disability
OMIM:251200	CASC5	57082	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	CENPJ	55835	HP:0000252	Microcephaly
OMIM:251200	CENPJ	55835	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:251200	CENPJ	55835	HP:0001347	Hyperreflexia
OMIM:251200	CENPJ	55835	HP:0002119	Ventriculomegaly
OMIM:251200	CENPJ	55835	HP:0001250	Seizures
OMIM:251200	CENPJ	55835	HP:0000069	Abnormality of the ureter
OMIM:251200	CENPJ	55835	HP:0100543	Cognitive impairment
OMIM:251200	CENPJ	55835	HP:0004322	Short stature
OMIM:251200	CENPJ	55835	HP:0000340	Sloping forehead
OMIM:251200	CENPJ	55835	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	CENPJ	55835	HP:0000494	Downslanted palpebral fissures
OMIM:251200	CENPJ	55835	HP:0000233	Thin vermilion border
OMIM:251200	CENPJ	55835	HP:0001249	Intellectual disability
OMIM:251200	CENPJ	55835	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	STIL	6491	HP:0000252	Microcephaly
OMIM:251200	STIL	6491	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	STIL	6491	HP:0000007	Autosomal recessive inheritance
OMIM:251200	STIL	6491	HP:0001347	Hyperreflexia
OMIM:251200	STIL	6491	HP:0002119	Ventriculomegaly
OMIM:251200	STIL	6491	HP:0001250	Seizures
OMIM:251200	STIL	6491	HP:0000069	Abnormality of the ureter
OMIM:251200	STIL	6491	HP:0100543	Cognitive impairment
OMIM:251200	STIL	6491	HP:0004322	Short stature
OMIM:251200	STIL	6491	HP:0000340	Sloping forehead
OMIM:251200	STIL	6491	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	STIL	6491	HP:0000494	Downslanted palpebral fissures
OMIM:251200	STIL	6491	HP:0000233	Thin vermilion border
OMIM:251200	STIL	6491	HP:0001249	Intellectual disability
OMIM:251200	STIL	6491	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	CDK6	1021	HP:0000252	Microcephaly
OMIM:251200	CDK6	1021	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	CDK6	1021	HP:0000007	Autosomal recessive inheritance
OMIM:251200	CDK6	1021	HP:0001347	Hyperreflexia
OMIM:251200	CDK6	1021	HP:0002119	Ventriculomegaly
OMIM:251200	CDK6	1021	HP:0001250	Seizures
OMIM:251200	CDK6	1021	HP:0000069	Abnormality of the ureter
OMIM:251200	CDK6	1021	HP:0100543	Cognitive impairment
OMIM:251200	CDK6	1021	HP:0004322	Short stature
OMIM:251200	CDK6	1021	HP:0000340	Sloping forehead
OMIM:251200	CDK6	1021	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	CDK6	1021	HP:0000494	Downslanted palpebral fissures
OMIM:251200	CDK6	1021	HP:0000233	Thin vermilion border
OMIM:251200	CDK6	1021	HP:0001249	Intellectual disability
OMIM:251200	CDK6	1021	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	CEP135	9662	HP:0000252	Microcephaly
OMIM:251200	CEP135	9662	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	CEP135	9662	HP:0000007	Autosomal recessive inheritance
OMIM:251200	CEP135	9662	HP:0001347	Hyperreflexia
OMIM:251200	CEP135	9662	HP:0002119	Ventriculomegaly
OMIM:251200	CEP135	9662	HP:0001250	Seizures
OMIM:251200	CEP135	9662	HP:0000069	Abnormality of the ureter
OMIM:251200	CEP135	9662	HP:0100543	Cognitive impairment
OMIM:251200	CEP135	9662	HP:0004322	Short stature
OMIM:251200	CEP135	9662	HP:0000340	Sloping forehead
OMIM:251200	CEP135	9662	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	CEP135	9662	HP:0000494	Downslanted palpebral fissures
OMIM:251200	CEP135	9662	HP:0000233	Thin vermilion border
OMIM:251200	CEP135	9662	HP:0001249	Intellectual disability
OMIM:251200	CEP135	9662	HP:0008678	Renal hypoplasia/aplasia
OMIM:251200	CEP63	80254	HP:0000252	Microcephaly
OMIM:251200	CEP63	80254	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:251200	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:251200	CEP63	80254	HP:0001347	Hyperreflexia
OMIM:251200	CEP63	80254	HP:0002119	Ventriculomegaly
OMIM:251200	CEP63	80254	HP:0001250	Seizures
OMIM:251200	CEP63	80254	HP:0000069	Abnormality of the ureter
OMIM:251200	CEP63	80254	HP:0100543	Cognitive impairment
OMIM:251200	CEP63	80254	HP:0004322	Short stature
OMIM:251200	CEP63	80254	HP:0000340	Sloping forehead
OMIM:251200	CEP63	80254	HP:0003103	Abnormal cortical bone morphology
OMIM:251200	CEP63	80254	HP:0000494	Downslanted palpebral fissures
OMIM:251200	CEP63	80254	HP:0000233	Thin vermilion border
OMIM:251200	CEP63	80254	HP:0001249	Intellectual disability
OMIM:251200	CEP63	80254	HP:0008678	Renal hypoplasia/aplasia
OMIM:609283	POLG2	11232	HP:0000407	Sensorineural hearing impairment
OMIM:609283	POLG2	11232	HP:0003581	Adult onset
OMIM:609283	POLG2	11232	HP:0003458	EMG: myopathic abnormalities
OMIM:609283	POLG2	11232	HP:0003324	Generalized muscle weakness
OMIM:609283	POLG2	11232	HP:0010628	Facial palsy
OMIM:609283	POLG2	11232	HP:0003676	Progressive
OMIM:609283	POLG2	11232	HP:0000508	Ptosis
OMIM:609283	POLG2	11232	HP:0000006	Autosomal dominant inheritance
OMIM:609283	POLG2	11232	HP:0003546	Exercise intolerance
OMIM:609283	SLC25A4	291	HP:0000407	Sensorineural hearing impairment
OMIM:609283	SLC25A4	291	HP:0003581	Adult onset
OMIM:609283	SLC25A4	291	HP:0003458	EMG: myopathic abnormalities
OMIM:609283	SLC25A4	291	HP:0003324	Generalized muscle weakness
OMIM:609283	SLC25A4	291	HP:0010628	Facial palsy
OMIM:609283	SLC25A4	291	HP:0003676	Progressive
OMIM:609283	SLC25A4	291	HP:0000508	Ptosis
OMIM:609283	SLC25A4	291	HP:0000006	Autosomal dominant inheritance
OMIM:609283	SLC25A4	291	HP:0003546	Exercise intolerance
OMIM:609283	POLG	5428	HP:0000407	Sensorineural hearing impairment
OMIM:609283	POLG	5428	HP:0003581	Adult onset
OMIM:609283	POLG	5428	HP:0003458	EMG: myopathic abnormalities
OMIM:609283	POLG	5428	HP:0003324	Generalized muscle weakness
OMIM:609283	POLG	5428	HP:0010628	Facial palsy
OMIM:609283	POLG	5428	HP:0003676	Progressive
OMIM:609283	POLG	5428	HP:0000508	Ptosis
OMIM:609283	POLG	5428	HP:0000006	Autosomal dominant inheritance
OMIM:609283	POLG	5428	HP:0003546	Exercise intolerance
OMIM:609283	RRM2B	50484	HP:0000407	Sensorineural hearing impairment
OMIM:609283	RRM2B	50484	HP:0003581	Adult onset
OMIM:609283	RRM2B	50484	HP:0003458	EMG: myopathic abnormalities
OMIM:609283	RRM2B	50484	HP:0003324	Generalized muscle weakness
OMIM:609283	RRM2B	50484	HP:0010628	Facial palsy
OMIM:609283	RRM2B	50484	HP:0003676	Progressive
OMIM:609283	RRM2B	50484	HP:0000508	Ptosis
OMIM:609283	RRM2B	50484	HP:0000006	Autosomal dominant inheritance
OMIM:609283	RRM2B	50484	HP:0003546	Exercise intolerance
OMIM:609283	C10ORF2	56652	HP:0000407	Sensorineural hearing impairment
OMIM:609283	C10ORF2	56652	HP:0003581	Adult onset
OMIM:609283	C10ORF2	56652	HP:0003458	EMG: myopathic abnormalities
OMIM:609283	C10ORF2	56652	HP:0003324	Generalized muscle weakness
OMIM:609283	C10ORF2	56652	HP:0010628	Facial palsy
OMIM:609283	C10ORF2	56652	HP:0003676	Progressive
OMIM:609283	C10ORF2	56652	HP:0000508	Ptosis
OMIM:609283	C10ORF2	56652	HP:0000006	Autosomal dominant inheritance
OMIM:609283	C10ORF2	56652	HP:0003546	Exercise intolerance
OMIM:612529	SLC24A4	123041	HP:0000007	Autosomal recessive inheritance
OMIM:612529	MMP20	9313	HP:0000007	Autosomal recessive inheritance
OMIM:612529	C4ORF26	152816	HP:0000007	Autosomal recessive inheritance
OMIM:612529	KLK4	9622	HP:0000007	Autosomal recessive inheritance
OMIM:612529	AMELX	265	HP:0000007	Autosomal recessive inheritance
OMIM:612529	WDR72	256764	HP:0000007	Autosomal recessive inheritance
OMIM:612740	ALAD	210	HP:0001053	Hypopigmented skin patches
OMIM:612740	ALAD	210	HP:0003401	Paresthesia
OMIM:612740	ALAD	210	HP:0004374	Hemiplegia/hemiparesis
OMIM:612740	ALAD	210	HP:0000998	Hypertrichosis
OMIM:612740	ALAD	210	HP:0001508	Failure to thrive
OMIM:612740	ALAD	210	HP:0000007	Autosomal recessive inheritance
OMIM:612740	ALAD	210	HP:0007400	Irregular hyperpigmentation
OMIM:612740	ALAD	210	HP:0000963	Thin skin
OMIM:612740	ALAD	210	HP:0002013	Vomiting
OMIM:612740	ALAD	210	HP:0000992	Cutaneous photosensitivity
OMIM:612740	ALAD	210	HP:0001878	Hemolytic anemia
OMIM:612740	ALAD	210	HP:0008069	Neoplasm of the skin
OMIM:612740	ALAD	210	HP:0000708	Behavioral abnormality
OMIM:612740	ALAD	210	HP:0001252	Muscular hypotonia
OMIM:612740	ALAD	210	HP:0000988	Skin rash
OMIM:228520	COL11A1	1301	HP:0001773	Short foot
OMIM:228520	COL11A1	1301	HP:0002007	Frontal bossing
OMIM:228520	COL11A1	1301	HP:0012385	Camptodactyly
OMIM:228520	COL11A1	1301	HP:0000463	Anteverted nares
OMIM:228520	COL11A1	1301	HP:0000470	Short neck
OMIM:228520	COL11A1	1301	HP:0008905	Rhizomelia
OMIM:228520	COL11A1	1301	HP:0001538	Protuberant abdomen
OMIM:228520	COL11A1	1301	HP:0001800	Hypoplastic toenails
OMIM:228520	COL11A1	1301	HP:0000520	Proptosis
OMIM:228520	COL11A1	1301	HP:0009473	Joint contracture of the hand
OMIM:228520	COL11A1	1301	HP:0001539	Omphalocele
OMIM:228520	COL11A1	1301	HP:0200055	Small hand
OMIM:228520	COL11A1	1301	HP:0000160	Narrow mouth
OMIM:228520	COL11A1	1301	HP:0000485	Megalocornea
OMIM:228520	COL11A1	1301	HP:0000773	Short ribs
OMIM:228520	COL11A1	1301	HP:0000343	Long philtrum
OMIM:228520	COL11A1	1301	HP:0005257	Thoracic hypoplasia
OMIM:228520	COL11A1	1301	HP:0000272	Malar flattening
OMIM:228520	COL11A1	1301	HP:0000369	Low-set ears
OMIM:228520	COL11A1	1301	HP:0000007	Autosomal recessive inheritance
OMIM:228520	COL11A1	1301	HP:0000377	Abnormality of the pinna
OMIM:228520	COL11A1	1301	HP:0003196	Short nose
OMIM:228520	COL11A1	1301	HP:0001655	Patent foramen ovale
OMIM:228520	COL11A1	1301	HP:0000926	Platyspondyly
OMIM:228520	COL11A1	1301	HP:0001804	Hypoplastic fingernail
OMIM:228520	COL11A1	1301	HP:0001789	Hydrops fetalis
OMIM:228520	COL11A1	1301	HP:0005622	Broad long bones
OMIM:228520	COL11A1	1301	HP:0003175	Hypoplastic ischia
OMIM:228520	COL11A1	1301	HP:0004279	Short palm
OMIM:228520	COL11A1	1301	HP:0003026	Short long bone
OMIM:228520	COL11A1	1301	HP:0003826	Stillbirth
OMIM:228520	COL11A1	1301	HP:0005280	Depressed nasal bridge
OMIM:228520	COL11A1	1301	HP:0003038	Fibular hypoplasia
OMIM:228520	COL11A1	1301	HP:0004209	Clinodactyly of the 5th finger
OMIM:228520	COL11A1	1301	HP:0000175	Cleft palate
OMIM:228520	COL11A1	1301	HP:0003375	Narrow greater sacrosciatic notches
OMIM:228520	COL11A1	1301	HP:0000882	Hypoplastic scapulae
OMIM:228520	COL11A2	1302	HP:0001773	Short foot
OMIM:228520	COL11A2	1302	HP:0002007	Frontal bossing
OMIM:228520	COL11A2	1302	HP:0012385	Camptodactyly
OMIM:228520	COL11A2	1302	HP:0000463	Anteverted nares
OMIM:228520	COL11A2	1302	HP:0000470	Short neck
OMIM:228520	COL11A2	1302	HP:0008905	Rhizomelia
OMIM:228520	COL11A2	1302	HP:0001538	Protuberant abdomen
OMIM:228520	COL11A2	1302	HP:0001800	Hypoplastic toenails
OMIM:228520	COL11A2	1302	HP:0000520	Proptosis
OMIM:228520	COL11A2	1302	HP:0009473	Joint contracture of the hand
OMIM:228520	COL11A2	1302	HP:0001539	Omphalocele
OMIM:228520	COL11A2	1302	HP:0200055	Small hand
OMIM:228520	COL11A2	1302	HP:0000160	Narrow mouth
OMIM:228520	COL11A2	1302	HP:0000485	Megalocornea
OMIM:228520	COL11A2	1302	HP:0000773	Short ribs
OMIM:228520	COL11A2	1302	HP:0000343	Long philtrum
OMIM:228520	COL11A2	1302	HP:0005257	Thoracic hypoplasia
OMIM:228520	COL11A2	1302	HP:0000272	Malar flattening
OMIM:228520	COL11A2	1302	HP:0000369	Low-set ears
OMIM:228520	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:228520	COL11A2	1302	HP:0000377	Abnormality of the pinna
OMIM:228520	COL11A2	1302	HP:0003196	Short nose
OMIM:228520	COL11A2	1302	HP:0001655	Patent foramen ovale
OMIM:228520	COL11A2	1302	HP:0000926	Platyspondyly
OMIM:228520	COL11A2	1302	HP:0001804	Hypoplastic fingernail
OMIM:228520	COL11A2	1302	HP:0001789	Hydrops fetalis
OMIM:228520	COL11A2	1302	HP:0005622	Broad long bones
OMIM:228520	COL11A2	1302	HP:0003175	Hypoplastic ischia
OMIM:228520	COL11A2	1302	HP:0004279	Short palm
OMIM:228520	COL11A2	1302	HP:0003026	Short long bone
OMIM:228520	COL11A2	1302	HP:0003826	Stillbirth
OMIM:228520	COL11A2	1302	HP:0005280	Depressed nasal bridge
OMIM:228520	COL11A2	1302	HP:0003038	Fibular hypoplasia
OMIM:228520	COL11A2	1302	HP:0004209	Clinodactyly of the 5th finger
OMIM:228520	COL11A2	1302	HP:0000175	Cleft palate
OMIM:228520	COL11A2	1302	HP:0003375	Narrow greater sacrosciatic notches
OMIM:228520	COL11A2	1302	HP:0000882	Hypoplastic scapulae
OMIM:256100	NPHP1	4867	HP:0001510	Growth delay
OMIM:256100	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:256100	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:256100	NPHP1	4867	HP:0000822	Hypertension
OMIM:256100	NPHP1	4867	HP:0001903	Anemia
OMIM:256100	NPHP1	4867	HP:0003774	Stage 5 chronic kidney disease
OMIM:615917	VARS2	57176	HP:0001252	Muscular hypotonia
OMIM:615917	VARS2	57176	HP:0001250	Seizures
OMIM:615917	VARS2	57176	HP:0000252	Microcephaly
OMIM:615917	VARS2	57176	HP:0001251	Ataxia
OMIM:615917	VARS2	57176	HP:0000508	Ptosis
OMIM:615917	VARS2	57176	HP:0001999	Abnormal facial shape
OMIM:615917	VARS2	57176	HP:0001263	Global developmental delay
ORPHANET:228415	NSD1	64324	HP:0000252	Microcephaly
ORPHANET:228415	NSD1	64324	HP:0000708	Behavioral abnormality
ORPHANET:228415	NSD1	64324	HP:0100543	Cognitive impairment
ORPHANET:228415	NSD1	64324	HP:0002750	Delayed skeletal maturation
ORPHANET:228415	NSD1	64324	HP:0004322	Short stature
ORPHANET:228415	NSD1	64324	HP:0000545	Myopia
OMIM:610878	SOX17	64321	HP:0000089	Renal hypoplasia
OMIM:610878	SOX17	64321	HP:0000006	Autosomal dominant inheritance
OMIM:610878	SOX17	64321	HP:0000076	Vesicoureteral reflux
OMIM:610878	ROBO2	6092	HP:0000089	Renal hypoplasia
OMIM:610878	ROBO2	6092	HP:0000006	Autosomal dominant inheritance
OMIM:610878	ROBO2	6092	HP:0000076	Vesicoureteral reflux
OMIM:610878	TNXB	7148	HP:0000089	Renal hypoplasia
OMIM:610878	TNXB	7148	HP:0000006	Autosomal dominant inheritance
OMIM:610878	TNXB	7148	HP:0000076	Vesicoureteral reflux
OMIM:102150	ABCC9	10060	HP:0100543	Cognitive impairment
OMIM:102150	ABCC9	10060	HP:0000574	Thick eyebrow
OMIM:102150	ABCC9	10060	HP:0000212	Gingival overgrowth
OMIM:102150	ABCC9	10060	HP:0001382	Joint hypermobility
OMIM:102150	ABCC9	10060	HP:0001072	Thickened skin
OMIM:102150	ABCC9	10060	HP:0000581	Blepharophimosis
OMIM:102150	ABCC9	10060	HP:0001163	Abnormality of the metacarpal bones
OMIM:102150	ABCC9	10060	HP:0001250	Seizures
OMIM:102150	ABCC9	10060	HP:0000347	Micrognathia
OMIM:102150	ABCC9	10060	HP:0000316	Hypertelorism
OMIM:102150	ABCC9	10060	HP:0000153	Abnormality of the mouth
OMIM:102150	ABCC9	10060	HP:0002553	Highly arched eyebrow
OMIM:102150	ABCC9	10060	HP:0000429	Abnormality of the nasal alae
OMIM:102150	ABCC9	10060	HP:0005105	Abnormal nasal morphology
OMIM:102150	ABCC9	10060	HP:0001328	Specific learning disability
OMIM:102150	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:102150	ABCC9	10060	HP:0000280	Coarse facial features
OMIM:102150	ABCC9	10060	HP:0000414	Bulbous nose
OMIM:102150	ABCC9	10060	HP:0001182	Tapered finger
OMIM:102150	ABCC9	10060	HP:0000157	Abnormality of the tongue
OMIM:102150	ABCC9	10060	HP:0000232	Everted lower lip vermilion
OMIM:102150	ABCC9	10060	HP:0001176	Large hands
OMIM:102150	ABCC9	10060	HP:0000179	Thick lower lip vermilion
OMIM:102150	ABCC9	10060	HP:0004493	Craniofacial hyperostosis
OMIM:102150	ABCC9	10060	HP:0000340	Sloping forehead
OMIM:102150	ABCC9	10060	HP:0000664	Synophrys
OMIM:102150	ABCC9	10060	HP:0001256	Intellectual disability, mild
OMIM:212840	RNF216	54476	HP:0000876	Oligomenorrhea
OMIM:212840	RNF216	54476	HP:0000789	Infertility
OMIM:212840	RNF216	54476	HP:0001272	Cerebellar atrophy
OMIM:212840	RNF216	54476	HP:0001260	Dysarthria
OMIM:212840	RNF216	54476	HP:0002059	Cerebral atrophy
OMIM:212840	RNF216	54476	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:212840	RNF216	54476	HP:0000924	Abnormality of the skeletal system
OMIM:212840	RNF216	54476	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:212840	RNF216	54476	HP:0001251	Ataxia
OMIM:212840	RNF216	54476	HP:0000007	Autosomal recessive inheritance
OMIM:212840	RNF216	54476	HP:0000726	Dementia
OMIM:212840	PNPLA6	10908	HP:0000876	Oligomenorrhea
OMIM:212840	PNPLA6	10908	HP:0000789	Infertility
OMIM:212840	PNPLA6	10908	HP:0001272	Cerebellar atrophy
OMIM:212840	PNPLA6	10908	HP:0001260	Dysarthria
OMIM:212840	PNPLA6	10908	HP:0002059	Cerebral atrophy
OMIM:212840	PNPLA6	10908	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:212840	PNPLA6	10908	HP:0000924	Abnormality of the skeletal system
OMIM:212840	PNPLA6	10908	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:212840	PNPLA6	10908	HP:0001251	Ataxia
OMIM:212840	PNPLA6	10908	HP:0000007	Autosomal recessive inheritance
OMIM:212840	PNPLA6	10908	HP:0000726	Dementia
ORPHANET:393	SRY	6736	HP:0000147	Polycystic ovaries
ORPHANET:393	SRY	6736	HP:0000062	Ambiguous genitalia
ORPHANET:393	SRY	6736	HP:0000035	Abnormality of the testis
ORPHANET:393	SOX3	6658	HP:0000147	Polycystic ovaries
ORPHANET:393	SOX3	6658	HP:0000062	Ambiguous genitalia
ORPHANET:393	SOX3	6658	HP:0000035	Abnormality of the testis
ORPHANET:393	SOX9	6662	HP:0000147	Polycystic ovaries
ORPHANET:393	SOX9	6662	HP:0000062	Ambiguous genitalia
ORPHANET:393	SOX9	6662	HP:0000035	Abnormality of the testis
OMIM:613988	NOP10	55505	HP:0008404	Nail dystrophy
OMIM:613988	NOP10	55505	HP:0005528	Bone marrow hypocellularity
OMIM:613988	NOP10	55505	HP:0000007	Autosomal recessive inheritance
OMIM:613988	NOP10	55505	HP:0002164	Nail dysplasia
OMIM:613988	NOP10	55505	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	NOP10	55505	HP:0002860	Squamous cell carcinoma
OMIM:613988	NOP10	55505	HP:0001876	Pancytopenia
OMIM:613988	PARN	5073	HP:0008404	Nail dystrophy
OMIM:613988	PARN	5073	HP:0005528	Bone marrow hypocellularity
OMIM:613988	PARN	5073	HP:0000007	Autosomal recessive inheritance
OMIM:613988	PARN	5073	HP:0002164	Nail dysplasia
OMIM:613988	PARN	5073	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	PARN	5073	HP:0002860	Squamous cell carcinoma
OMIM:613988	PARN	5073	HP:0001876	Pancytopenia
OMIM:613988	NHP2	55651	HP:0008404	Nail dystrophy
OMIM:613988	NHP2	55651	HP:0005528	Bone marrow hypocellularity
OMIM:613988	NHP2	55651	HP:0000007	Autosomal recessive inheritance
OMIM:613988	NHP2	55651	HP:0002164	Nail dysplasia
OMIM:613988	NHP2	55651	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	NHP2	55651	HP:0002860	Squamous cell carcinoma
OMIM:613988	NHP2	55651	HP:0001876	Pancytopenia
OMIM:613988	USB1	79650	HP:0008404	Nail dystrophy
OMIM:613988	USB1	79650	HP:0005528	Bone marrow hypocellularity
OMIM:613988	USB1	79650	HP:0000007	Autosomal recessive inheritance
OMIM:613988	USB1	79650	HP:0002164	Nail dysplasia
OMIM:613988	USB1	79650	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	USB1	79650	HP:0002860	Squamous cell carcinoma
OMIM:613988	USB1	79650	HP:0001876	Pancytopenia
OMIM:613988	TERC	7012	HP:0008404	Nail dystrophy
OMIM:613988	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:613988	TERC	7012	HP:0000007	Autosomal recessive inheritance
OMIM:613988	TERC	7012	HP:0002164	Nail dysplasia
OMIM:613988	TERC	7012	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	TERC	7012	HP:0002860	Squamous cell carcinoma
OMIM:613988	TERC	7012	HP:0001876	Pancytopenia
OMIM:613988	TINF2	26277	HP:0008404	Nail dystrophy
OMIM:613988	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:613988	TINF2	26277	HP:0000007	Autosomal recessive inheritance
OMIM:613988	TINF2	26277	HP:0002164	Nail dysplasia
OMIM:613988	TINF2	26277	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	TINF2	26277	HP:0002860	Squamous cell carcinoma
OMIM:613988	TINF2	26277	HP:0001876	Pancytopenia
OMIM:613988	RTEL1	51750	HP:0008404	Nail dystrophy
OMIM:613988	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
OMIM:613988	RTEL1	51750	HP:0000007	Autosomal recessive inheritance
OMIM:613988	RTEL1	51750	HP:0002164	Nail dysplasia
OMIM:613988	RTEL1	51750	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	RTEL1	51750	HP:0002860	Squamous cell carcinoma
OMIM:613988	RTEL1	51750	HP:0001876	Pancytopenia
OMIM:613988	TERT	7015	HP:0008404	Nail dystrophy
OMIM:613988	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:613988	TERT	7015	HP:0000007	Autosomal recessive inheritance
OMIM:613988	TERT	7015	HP:0002164	Nail dysplasia
OMIM:613988	TERT	7015	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	TERT	7015	HP:0002860	Squamous cell carcinoma
OMIM:613988	TERT	7015	HP:0001876	Pancytopenia
OMIM:613988	DKC1	1736	HP:0008404	Nail dystrophy
OMIM:613988	DKC1	1736	HP:0005528	Bone marrow hypocellularity
OMIM:613988	DKC1	1736	HP:0000007	Autosomal recessive inheritance
OMIM:613988	DKC1	1736	HP:0002164	Nail dysplasia
OMIM:613988	DKC1	1736	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	DKC1	1736	HP:0002860	Squamous cell carcinoma
OMIM:613988	DKC1	1736	HP:0001876	Pancytopenia
OMIM:613988	CTC1	80169	HP:0008404	Nail dystrophy
OMIM:613988	CTC1	80169	HP:0005528	Bone marrow hypocellularity
OMIM:613988	CTC1	80169	HP:0000007	Autosomal recessive inheritance
OMIM:613988	CTC1	80169	HP:0002164	Nail dysplasia
OMIM:613988	CTC1	80169	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	CTC1	80169	HP:0002860	Squamous cell carcinoma
OMIM:613988	CTC1	80169	HP:0001876	Pancytopenia
OMIM:613988	WRAP53	55135	HP:0008404	Nail dystrophy
OMIM:613988	WRAP53	55135	HP:0005528	Bone marrow hypocellularity
OMIM:613988	WRAP53	55135	HP:0000007	Autosomal recessive inheritance
OMIM:613988	WRAP53	55135	HP:0002164	Nail dysplasia
OMIM:613988	WRAP53	55135	HP:0001000	Abnormality of skin pigmentation
OMIM:613988	WRAP53	55135	HP:0002860	Squamous cell carcinoma
OMIM:613988	WRAP53	55135	HP:0001876	Pancytopenia
OMIM:300388	PI4KA	5297	HP:0007270	Atypical absence seizures
OMIM:300388	PI4KA	5297	HP:0002069	Generalized tonic-clonic seizures
OMIM:300388	PI4KA	5297	HP:0007024	Pseudobulbar paralysis
OMIM:300388	PI4KA	5297	HP:0100543	Cognitive impairment
OMIM:300388	PI4KA	5297	HP:0001423	X-linked dominant inheritance
OMIM:300388	PI4KA	5297	HP:0002126	Polymicrogyria
OMIM:300388	PI4KA	5297	HP:0010522	Dyslexia
OMIM:300388	PI4KA	5297	HP:0000750	Delayed speech and language development
OMIM:300388	SRPX2	27286	HP:0007270	Atypical absence seizures
OMIM:300388	SRPX2	27286	HP:0002069	Generalized tonic-clonic seizures
OMIM:300388	SRPX2	27286	HP:0007024	Pseudobulbar paralysis
OMIM:300388	SRPX2	27286	HP:0100543	Cognitive impairment
OMIM:300388	SRPX2	27286	HP:0001423	X-linked dominant inheritance
OMIM:300388	SRPX2	27286	HP:0002126	Polymicrogyria
OMIM:300388	SRPX2	27286	HP:0010522	Dyslexia
OMIM:300388	SRPX2	27286	HP:0000750	Delayed speech and language development
OMIM:300388	ADGRG1	9289	HP:0007270	Atypical absence seizures
OMIM:300388	ADGRG1	9289	HP:0002069	Generalized tonic-clonic seizures
OMIM:300388	ADGRG1	9289	HP:0007024	Pseudobulbar paralysis
OMIM:300388	ADGRG1	9289	HP:0100543	Cognitive impairment
OMIM:300388	ADGRG1	9289	HP:0001423	X-linked dominant inheritance
OMIM:300388	ADGRG1	9289	HP:0002126	Polymicrogyria
OMIM:300388	ADGRG1	9289	HP:0010522	Dyslexia
OMIM:300388	ADGRG1	9289	HP:0000750	Delayed speech and language development
OMIM:108720	FLNB	2317	HP:0000774	Narrow chest
OMIM:108720	FLNB	2317	HP:0000272	Malar flattening
OMIM:108720	FLNB	2317	HP:0002084	Encephalocele
OMIM:108720	FLNB	2317	HP:0006495	Aplasia/Hypoplasia of the ulna
OMIM:108720	FLNB	2317	HP:0000470	Short neck
OMIM:108720	FLNB	2317	HP:0001156	Brachydactyly syndrome
OMIM:108720	FLNB	2317	HP:0001217	Clubbing
OMIM:108720	FLNB	2317	HP:0011800	Hypoplasia of midface
OMIM:108720	FLNB	2317	HP:0003417	Coronal cleft vertebrae
OMIM:108720	FLNB	2317	HP:0003042	Elbow dislocation
OMIM:108720	FLNB	2317	HP:0003196	Short nose
OMIM:108720	FLNB	2317	HP:0010743	Short metatarsal
OMIM:108720	FLNB	2317	HP:0000175	Cleft palate
OMIM:108720	FLNB	2317	HP:0001762	Talipes equinovarus
OMIM:108720	FLNB	2317	HP:0005792	Short humerus
OMIM:108720	FLNB	2317	HP:0001561	Polyhydramnios
OMIM:108720	FLNB	2317	HP:0000878	11 pairs of ribs
OMIM:108720	FLNB	2317	HP:0000347	Micrognathia
OMIM:108720	FLNB	2317	HP:0001622	Premature birth
OMIM:108720	FLNB	2317	HP:0002007	Frontal bossing
OMIM:108720	FLNB	2317	HP:0000028	Cryptorchidism
OMIM:108720	FLNB	2317	HP:0002986	Radial bowing
OMIM:108720	FLNB	2317	HP:0002949	Fused cervical vertebrae
OMIM:108720	FLNB	2317	HP:0003826	Stillbirth
OMIM:108720	FLNB	2317	HP:0008905	Rhizomelia
OMIM:108720	FLNB	2317	HP:0000520	Proptosis
OMIM:108720	FLNB	2317	HP:0002982	Tibial bowing
OMIM:108720	FLNB	2317	HP:0003745	Sporadic
OMIM:108720	FLNB	2317	HP:0010049	Short metacarpal
OMIM:108720	FLNB	2317	HP:0005280	Depressed nasal bridge
OMIM:616355	PPP2R5D	5528	HP:0000238	Hydrocephalus
OMIM:616355	PPP2R5D	5528	HP:0001943	Hypoglycemia
OMIM:616355	PPP2R5D	5528	HP:0000545	Myopia
OMIM:616355	PPP2R5D	5528	HP:0001250	Seizures
OMIM:616355	PPP2R5D	5528	HP:0000341	Narrow forehead
OMIM:616355	PPP2R5D	5528	HP:0002119	Ventriculomegaly
OMIM:616355	PPP2R5D	5528	HP:0001249	Intellectual disability
OMIM:616355	PPP2R5D	5528	HP:0001263	Global developmental delay
OMIM:616355	PPP2R5D	5528	HP:0001290	Generalized hypotonia
OMIM:616355	PPP2R5D	5528	HP:0000490	Deeply set eye
OMIM:616355	PPP2R5D	5528	HP:0002028	Chronic diarrhea
OMIM:616355	PPP2R5D	5528	HP:0000316	Hypertelorism
OMIM:616355	PPP2R5D	5528	HP:0000256	Macrocephaly
OMIM:616355	PPP2R5D	5528	HP:0000494	Downslanted palpebral fissures
OMIM:616355	PPP2R5D	5528	HP:0000194	Open mouth
OMIM:616355	PPP2R5D	5528	HP:0001374	Congenital hip dislocation
OMIM:616355	PPP2R5D	5528	HP:0000486	Strabismus
OMIM:616355	PPP2R5D	5528	HP:0002021	Pyloric stenosis
OMIM:214500	LYST	1130	HP:0001903	Anemia
OMIM:214500	LYST	1130	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:214500	LYST	1130	HP:0001337	Tremor
OMIM:214500	LYST	1130	HP:0001744	Splenomegaly
OMIM:214500	LYST	1130	HP:0002239	Gastrointestinal hemorrhage
OMIM:214500	LYST	1130	HP:0000486	Strabismus
OMIM:214500	LYST	1130	HP:0001873	Thrombocytopenia
OMIM:214500	LYST	1130	HP:0000225	Gingival bleeding
OMIM:214500	LYST	1130	HP:0001265	Hyporeflexia
OMIM:214500	LYST	1130	HP:0001276	Hypertonia
OMIM:214500	LYST	1130	HP:0005592	Giant melanosomes in melanocytes
OMIM:214500	LYST	1130	HP:0000704	Periodontitis
OMIM:214500	LYST	1130	HP:0001874	Abnormality of neutrophils
OMIM:214500	LYST	1130	HP:0000230	Gingivitis
OMIM:214500	LYST	1130	HP:0001288	Gait disturbance
OMIM:214500	LYST	1130	HP:0000007	Autosomal recessive inheritance
OMIM:214500	LYST	1130	HP:0000952	Jaundice
OMIM:214500	LYST	1130	HP:0001010	Hypopigmentation of the skin
OMIM:214500	LYST	1130	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:214500	LYST	1130	HP:0002716	Lymphadenopathy
OMIM:214500	LYST	1130	HP:0007440	Generalized hyperpigmentation
OMIM:214500	LYST	1130	HP:0002180	Neurodegeneration
OMIM:214500	LYST	1130	HP:0004370	Abnormality of temperature regulation
OMIM:214500	LYST	1130	HP:0100543	Cognitive impairment
OMIM:214500	LYST	1130	HP:0001315	Reduced tendon reflexes
OMIM:214500	LYST	1130	HP:0000762	Decreased nerve conduction velocity
OMIM:214500	LYST	1130	HP:0000613	Photophobia
OMIM:214500	LYST	1130	HP:0002240	Hepatomegaly
OMIM:214500	LYST	1130	HP:0007133	Progressive peripheral neuropathy
OMIM:214500	LYST	1130	HP:0001250	Seizures
OMIM:214500	LYST	1130	HP:0002205	Recurrent respiratory infections
OMIM:214500	LYST	1130	HP:0003401	Paresthesia
OMIM:214500	LYST	1130	HP:0007663	Reduced visual acuity
OMIM:214500	LYST	1130	HP:0000421	Epistaxis
OMIM:214500	LYST	1130	HP:0009027	Foot dorsiflexor weakness
OMIM:214500	LYST	1130	HP:0000639	Nystagmus
OMIM:214500	LYST	1130	HP:0000505	Visual impairment
OMIM:214500	LYST	1130	HP:0001249	Intellectual disability
OMIM:214500	LYST	1130	HP:0000978	Bruising susceptibility
OMIM:214500	LYST	1130	HP:0001107	Ocular albinism
OMIM:214500	LYST	1130	HP:0001882	Leukopenia
OMIM:214500	LYST	1130	HP:0005429	Recurrent systemic pyogenic infections
OMIM:214500	LYST	1130	HP:0001104	Macular hypoplasia
OMIM:214500	LYST	1130	HP:0007730	Iris hypopigmentation
OMIM:214500	LYST	1130	HP:0200042	Skin ulcer
OMIM:214500	LYST	1130	HP:0007513	Generalized hypopigmentation
OMIM:214500	LYST	1130	HP:0005599	Hypopigmentation of hair
OMIM:214500	LYST	1130	HP:0002376	Developmental regression
OMIM:214500	LYST	1130	HP:0006824	Cranial nerve paralysis
OMIM:214500	LYST	1130	HP:0100838	Recurrent cutaneous abscess formation
ORPHANET:342	MEFV	4210	HP:0000093	Proteinuria
ORPHANET:342	MEFV	4210	HP:0001733	Pancreatitis
ORPHANET:342	MEFV	4210	HP:0003326	Myalgia
ORPHANET:342	MEFV	4210	HP:0002019	Constipation
ORPHANET:342	MEFV	4210	HP:0002014	Diarrhea
ORPHANET:342	MEFV	4210	HP:0002758	Osteoarthritis
ORPHANET:342	MEFV	4210	HP:0000163	Abnormality of the oral cavity
ORPHANET:342	MEFV	4210	HP:0001541	Ascites
ORPHANET:342	MEFV	4210	HP:0000988	Skin rash
ORPHANET:342	MEFV	4210	HP:0001250	Seizures
ORPHANET:342	MEFV	4210	HP:0000112	Nephropathy
ORPHANET:342	MEFV	4210	HP:0002024	Malabsorption
ORPHANET:342	MEFV	4210	HP:0005214	Intestinal obstruction
ORPHANET:342	MEFV	4210	HP:0000100	Nephrotic syndrome
ORPHANET:342	MEFV	4210	HP:0100749	Chest pain
ORPHANET:342	MEFV	4210	HP:0000121	Nephrocalcinosis
ORPHANET:342	MEFV	4210	HP:0001287	Meningitis
ORPHANET:342	MEFV	4210	HP:0002716	Lymphadenopathy
ORPHANET:342	MEFV	4210	HP:0002829	Arthralgia
ORPHANET:342	MEFV	4210	HP:0011675	Arrhythmia
ORPHANET:342	MEFV	4210	HP:0004370	Abnormality of temperature regulation
ORPHANET:342	MEFV	4210	HP:0002027	Abdominal pain
ORPHANET:342	MEFV	4210	HP:0002633	Vasculitis
ORPHANET:342	MEFV	4210	HP:0001677	Coronary artery disease
ORPHANET:342	MEFV	4210	HP:0002017	Nausea and vomiting
ORPHANET:342	MEFV	4210	HP:0001744	Splenomegaly
OMIM:610092	VSX2	338917	HP:0000568	Microphthalmia
OMIM:610092	VSX2	338917	HP:0000007	Autosomal recessive inheritance
OMIM:610092	VSX2	338917	HP:0000518	Cataract
OMIM:610092	VSX2	338917	HP:0000589	Coloboma
OMIM:610092	TENM3	55714	HP:0000568	Microphthalmia
OMIM:610092	TENM3	55714	HP:0000007	Autosomal recessive inheritance
OMIM:610092	TENM3	55714	HP:0000518	Cataract
OMIM:610092	TENM3	55714	HP:0000589	Coloboma
OMIM:610092	SHH	6469	HP:0000568	Microphthalmia
OMIM:610092	SHH	6469	HP:0000007	Autosomal recessive inheritance
OMIM:610092	SHH	6469	HP:0000518	Cataract
OMIM:610092	SHH	6469	HP:0000589	Coloboma
OMIM:610092	GDF3	9573	HP:0000568	Microphthalmia
OMIM:610092	GDF3	9573	HP:0000007	Autosomal recessive inheritance
OMIM:610092	GDF3	9573	HP:0000518	Cataract
OMIM:610092	GDF3	9573	HP:0000589	Coloboma
OMIM:610092	GDF6	392255	HP:0000568	Microphthalmia
OMIM:610092	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:610092	GDF6	392255	HP:0000518	Cataract
OMIM:610092	GDF6	392255	HP:0000589	Coloboma
OMIM:610092	ABCB6	10058	HP:0000568	Microphthalmia
OMIM:610092	ABCB6	10058	HP:0000007	Autosomal recessive inheritance
OMIM:610092	ABCB6	10058	HP:0000518	Cataract
OMIM:610092	ABCB6	10058	HP:0000589	Coloboma
OMIM:610092	STRA6	64220	HP:0000568	Microphthalmia
OMIM:610092	STRA6	64220	HP:0000007	Autosomal recessive inheritance
OMIM:610092	STRA6	64220	HP:0000518	Cataract
OMIM:610092	STRA6	64220	HP:0000589	Coloboma
OMIM:610092	RBP4	5950	HP:0000568	Microphthalmia
OMIM:610092	RBP4	5950	HP:0000007	Autosomal recessive inheritance
OMIM:610092	RBP4	5950	HP:0000518	Cataract
OMIM:610092	RBP4	5950	HP:0000589	Coloboma
OMIM:609647	MSRB3	253827	HP:0003593	Infantile onset
OMIM:609647	MSRB3	253827	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:609647	BSND	7809	HP:0003593	Infantile onset
OMIM:609647	BSND	7809	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:609647	ESPN	83715	HP:0003593	Infantile onset
OMIM:609647	ESPN	83715	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:609647	DFNB31	25861	HP:0003593	Infantile onset
OMIM:609647	DFNB31	25861	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:609647	OTOA	146183	HP:0003593	Infantile onset
OMIM:609647	OTOA	146183	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:609647	GJA1	2697	HP:0003593	Infantile onset
OMIM:609647	GJA1	2697	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:609647	MET	4233	HP:0003593	Infantile onset
OMIM:609647	MET	4233	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:609647	CLDN14	23562	HP:0003593	Infantile onset
OMIM:609647	CLDN14	23562	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:609647	HGF	3082	HP:0003593	Infantile onset
OMIM:609647	HGF	3082	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:609647	PNPT1	87178	HP:0003593	Infantile onset
OMIM:609647	PNPT1	87178	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:609647	EPS8	2059	HP:0003593	Infantile onset
OMIM:609647	EPS8	2059	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:609647	MYO3A	53904	HP:0003593	Infantile onset
OMIM:609647	MYO3A	53904	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:609647	DCDC2	51473	HP:0003593	Infantile onset
OMIM:609647	DCDC2	51473	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:609647	GJB2	2706	HP:0003593	Infantile onset
OMIM:609647	GJB2	2706	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:609647	GJB3	2707	HP:0003593	Infantile onset
OMIM:609647	GJB3	2707	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:609647	CABP2	51475	HP:0003593	Infantile onset
OMIM:609647	CABP2	51475	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:609647	GRXCR2	643226	HP:0003593	Infantile onset
OMIM:609647	GRXCR2	643226	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:609647	SERPINB6	5269	HP:0003593	Infantile onset
OMIM:609647	SERPINB6	5269	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:609647	COL11A2	1302	HP:0003593	Infantile onset
OMIM:609647	COL11A2	1302	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:609647	CIB2	10518	HP:0003593	Infantile onset
OMIM:609647	CIB2	10518	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:609647	FAM65B	9750	HP:0003593	Infantile onset
OMIM:609647	FAM65B	9750	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:609647	KARS	3735	HP:0003593	Infantile onset
OMIM:609647	KARS	3735	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:609647	LOXHD1	125336	HP:0003593	Infantile onset
OMIM:609647	LOXHD1	125336	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:609647	TMC1	117531	HP:0003593	Infantile onset
OMIM:609647	TMC1	117531	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:609647	CLIC5	53405	HP:0003593	Infantile onset
OMIM:609647	CLIC5	53405	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:609647	OTOF	9381	HP:0003593	Infantile onset
OMIM:609647	OTOF	9381	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:609647	MYO6	4646	HP:0003593	Infantile onset
OMIM:609647	MYO6	4646	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:609647	TMIE	259236	HP:0003593	Infantile onset
OMIM:609647	TMIE	259236	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:609647	MYO7A	4647	HP:0003593	Infantile onset
OMIM:609647	MYO7A	4647	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:609647	LRTOMT	220074	HP:0003593	Infantile onset
OMIM:609647	LRTOMT	220074	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:609647	OTOGL	283310	HP:0003593	Infantile onset
OMIM:609647	OTOGL	283310	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:609647	TPRN	286262	HP:0003593	Infantile onset
OMIM:609647	TPRN	286262	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:609647	SLC26A4	5172	HP:0003593	Infantile onset
OMIM:609647	SLC26A4	5172	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:609647	GJB6	10804	HP:0003593	Infantile onset
OMIM:609647	GJB6	10804	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:609647	DFNB59	494513	HP:0003593	Infantile onset
OMIM:609647	DFNB59	494513	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:609647	ESRRB	2103	HP:0003593	Infantile onset
OMIM:609647	ESRRB	2103	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:609647	TMPRSS3	64699	HP:0003593	Infantile onset
OMIM:609647	TMPRSS3	64699	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:609647	PTPRQ	374462	HP:0003593	Infantile onset
OMIM:609647	PTPRQ	374462	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:609647	SLC26A5	375611	HP:0003593	Infantile onset
OMIM:609647	SLC26A5	375611	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:609647	PCDH15	65217	HP:0003593	Infantile onset
OMIM:609647	PCDH15	65217	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:609647	TSPEAR	54084	HP:0003593	Infantile onset
OMIM:609647	TSPEAR	54084	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:609647	LHFPL5	222662	HP:0003593	Infantile onset
OMIM:609647	LHFPL5	222662	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:609647	TRIOBP	11078	HP:0003593	Infantile onset
OMIM:609647	TRIOBP	11078	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:609647	CDH23	64072	HP:0003593	Infantile onset
OMIM:609647	CDH23	64072	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:609647	RDX	5962	HP:0003593	Infantile onset
OMIM:609647	RDX	5962	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:609647	GPSM2	29899	HP:0003593	Infantile onset
OMIM:609647	GPSM2	29899	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:609647	ELMOD3	84173	HP:0003593	Infantile onset
OMIM:609647	ELMOD3	84173	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:609647	ILDR1	286676	HP:0003593	Infantile onset
OMIM:609647	ILDR1	286676	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:609647	GRXCR1	389207	HP:0003593	Infantile onset
OMIM:609647	GRXCR1	389207	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:609647	MARVELD2	153562	HP:0003593	Infantile onset
OMIM:609647	MARVELD2	153562	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:609647	STRC	161497	HP:0003593	Infantile onset
OMIM:609647	STRC	161497	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:609647	SLITRK6	84189	HP:0003593	Infantile onset
OMIM:609647	SLITRK6	84189	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:609647	TECTA	7007	HP:0003593	Infantile onset
OMIM:609647	TECTA	7007	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:609647	MYO15A	51168	HP:0003593	Infantile onset
OMIM:609647	MYO15A	51168	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:609647	USH1C	10083	HP:0003593	Infantile onset
OMIM:609647	USH1C	10083	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:609647	ADCY1	107	HP:0003593	Infantile onset
OMIM:609647	ADCY1	107	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:609647	SYNE4	163183	HP:0003593	Infantile onset
OMIM:609647	SYNE4	163183	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:609647	GIPC3	126326	HP:0003593	Infantile onset
OMIM:609647	GIPC3	126326	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:609647	TBC1D24	57465	HP:0003593	Infantile onset
OMIM:609647	TBC1D24	57465	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:609647	OTOG	340990	HP:0003593	Infantile onset
OMIM:609647	OTOG	340990	HP:0011476	Profound sensorineural hearing impairment
OMIM:609647	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:603720	MSRB3	253827	HP:0000006	Autosomal dominant inheritance
OMIM:603720	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:603720	BSND	7809	HP:0000006	Autosomal dominant inheritance
OMIM:603720	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:603720	ESPN	83715	HP:0000006	Autosomal dominant inheritance
OMIM:603720	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:603720	DFNB31	25861	HP:0000006	Autosomal dominant inheritance
OMIM:603720	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:603720	OTOA	146183	HP:0000006	Autosomal dominant inheritance
OMIM:603720	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:603720	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:603720	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:603720	MET	4233	HP:0000006	Autosomal dominant inheritance
OMIM:603720	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:603720	CLDN14	23562	HP:0000006	Autosomal dominant inheritance
OMIM:603720	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:603720	HGF	3082	HP:0000006	Autosomal dominant inheritance
OMIM:603720	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:603720	PNPT1	87178	HP:0000006	Autosomal dominant inheritance
OMIM:603720	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:603720	EPS8	2059	HP:0000006	Autosomal dominant inheritance
OMIM:603720	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:603720	MYO3A	53904	HP:0000006	Autosomal dominant inheritance
OMIM:603720	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:603720	DCDC2	51473	HP:0000006	Autosomal dominant inheritance
OMIM:603720	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:603720	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:603720	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:603720	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:603720	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:603720	CABP2	51475	HP:0000006	Autosomal dominant inheritance
OMIM:603720	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:603720	GRXCR2	643226	HP:0000006	Autosomal dominant inheritance
OMIM:603720	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:603720	SERPINB6	5269	HP:0000006	Autosomal dominant inheritance
OMIM:603720	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:603720	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:603720	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:603720	CIB2	10518	HP:0000006	Autosomal dominant inheritance
OMIM:603720	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:603720	FAM65B	9750	HP:0000006	Autosomal dominant inheritance
OMIM:603720	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:603720	KARS	3735	HP:0000006	Autosomal dominant inheritance
OMIM:603720	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:603720	LOXHD1	125336	HP:0000006	Autosomal dominant inheritance
OMIM:603720	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:603720	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:603720	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:603720	CLIC5	53405	HP:0000006	Autosomal dominant inheritance
OMIM:603720	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:603720	OTOF	9381	HP:0000006	Autosomal dominant inheritance
OMIM:603720	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:603720	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:603720	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:603720	TMIE	259236	HP:0000006	Autosomal dominant inheritance
OMIM:603720	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:603720	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:603720	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:603720	LRTOMT	220074	HP:0000006	Autosomal dominant inheritance
OMIM:603720	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:603720	OTOGL	283310	HP:0000006	Autosomal dominant inheritance
OMIM:603720	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:603720	TPRN	286262	HP:0000006	Autosomal dominant inheritance
OMIM:603720	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:603720	SLC26A4	5172	HP:0000006	Autosomal dominant inheritance
OMIM:603720	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:603720	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:603720	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:603720	DFNB59	494513	HP:0000006	Autosomal dominant inheritance
OMIM:603720	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:603720	ESRRB	2103	HP:0000006	Autosomal dominant inheritance
OMIM:603720	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:603720	TMPRSS3	64699	HP:0000006	Autosomal dominant inheritance
OMIM:603720	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:603720	PTPRQ	374462	HP:0000006	Autosomal dominant inheritance
OMIM:603720	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:603720	SLC26A5	375611	HP:0000006	Autosomal dominant inheritance
OMIM:603720	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:603720	PCDH15	65217	HP:0000006	Autosomal dominant inheritance
OMIM:603720	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:603720	TSPEAR	54084	HP:0000006	Autosomal dominant inheritance
OMIM:603720	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:603720	LHFPL5	222662	HP:0000006	Autosomal dominant inheritance
OMIM:603720	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:603720	TRIOBP	11078	HP:0000006	Autosomal dominant inheritance
OMIM:603720	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:603720	CDH23	64072	HP:0000006	Autosomal dominant inheritance
OMIM:603720	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:603720	RDX	5962	HP:0000006	Autosomal dominant inheritance
OMIM:603720	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:603720	GPSM2	29899	HP:0000006	Autosomal dominant inheritance
OMIM:603720	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:603720	ELMOD3	84173	HP:0000006	Autosomal dominant inheritance
OMIM:603720	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:603720	ILDR1	286676	HP:0000006	Autosomal dominant inheritance
OMIM:603720	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:603720	GRXCR1	389207	HP:0000006	Autosomal dominant inheritance
OMIM:603720	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:603720	MARVELD2	153562	HP:0000006	Autosomal dominant inheritance
OMIM:603720	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:603720	STRC	161497	HP:0000006	Autosomal dominant inheritance
OMIM:603720	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:603720	SLITRK6	84189	HP:0000006	Autosomal dominant inheritance
OMIM:603720	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:603720	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:603720	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:603720	MYO15A	51168	HP:0000006	Autosomal dominant inheritance
OMIM:603720	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:603720	USH1C	10083	HP:0000006	Autosomal dominant inheritance
OMIM:603720	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:603720	ADCY1	107	HP:0000006	Autosomal dominant inheritance
OMIM:603720	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:603720	SYNE4	163183	HP:0000006	Autosomal dominant inheritance
OMIM:603720	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:603720	GIPC3	126326	HP:0000006	Autosomal dominant inheritance
OMIM:603720	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:603720	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:603720	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:603720	OTOG	340990	HP:0000006	Autosomal dominant inheritance
OMIM:603720	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:203300	HPS4	89781	HP:0000007	Autosomal recessive inheritance
OMIM:203300	HPS4	89781	HP:0002091	Restrictive lung disease
OMIM:203300	HPS4	89781	HP:0007603	Freckles in sun-exposed areas
OMIM:203300	HPS4	89781	HP:0000083	Renal insufficiency
OMIM:203300	HPS4	89781	HP:0000995	Melanocytic nevus
OMIM:203300	HPS4	89781	HP:0001425	Heterogeneous
OMIM:203300	HPS4	89781	HP:0002037	Inflammation of the large intestine
OMIM:203300	HPS4	89781	HP:0003010	Prolonged bleeding time
OMIM:203300	HPS4	89781	HP:0000978	Bruising susceptibility
OMIM:203300	HPS4	89781	HP:0000225	Gingival bleeding
OMIM:203300	HPS4	89781	HP:0000639	Nystagmus
OMIM:203300	HPS4	89781	HP:0001480	Freckling
OMIM:203300	HPS4	89781	HP:0002206	Pulmonary fibrosis
OMIM:203300	HPS4	89781	HP:0002573	Hematochezia
OMIM:203300	HPS4	89781	HP:0001141	Severe visual impairment
OMIM:203300	HPS4	89781	HP:0001638	Cardiomyopathy
OMIM:203300	HPS4	89781	HP:0001022	Albinism
OMIM:203300	HPS4	89781	HP:0002027	Abdominal pain
OMIM:203300	HPS4	89781	HP:0001595	Abnormality of the hair
OMIM:203300	HPS4	89781	HP:0001107	Ocular albinism
OMIM:203300	HPS4	89781	HP:0000421	Epistaxis
OMIM:203300	HPS1	3257	HP:0000007	Autosomal recessive inheritance
OMIM:203300	HPS1	3257	HP:0002091	Restrictive lung disease
OMIM:203300	HPS1	3257	HP:0007603	Freckles in sun-exposed areas
OMIM:203300	HPS1	3257	HP:0000083	Renal insufficiency
OMIM:203300	HPS1	3257	HP:0000995	Melanocytic nevus
OMIM:203300	HPS1	3257	HP:0001425	Heterogeneous
OMIM:203300	HPS1	3257	HP:0002037	Inflammation of the large intestine
OMIM:203300	HPS1	3257	HP:0003010	Prolonged bleeding time
OMIM:203300	HPS1	3257	HP:0000978	Bruising susceptibility
OMIM:203300	HPS1	3257	HP:0000225	Gingival bleeding
OMIM:203300	HPS1	3257	HP:0000639	Nystagmus
OMIM:203300	HPS1	3257	HP:0001480	Freckling
OMIM:203300	HPS1	3257	HP:0002206	Pulmonary fibrosis
OMIM:203300	HPS1	3257	HP:0002573	Hematochezia
OMIM:203300	HPS1	3257	HP:0001141	Severe visual impairment
OMIM:203300	HPS1	3257	HP:0001638	Cardiomyopathy
OMIM:203300	HPS1	3257	HP:0001022	Albinism
OMIM:203300	HPS1	3257	HP:0002027	Abdominal pain
OMIM:203300	HPS1	3257	HP:0001595	Abnormality of the hair
OMIM:203300	HPS1	3257	HP:0001107	Ocular albinism
OMIM:203300	HPS1	3257	HP:0000421	Epistaxis
OMIM:115660	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:115660	CRYBA2	1412	HP:0000572	Visual loss
OMIM:115660	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:115660	AGK	55750	HP:0000519	Congenital cataract
OMIM:115660	AGK	55750	HP:0000572	Visual loss
OMIM:115660	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:115660	CRYBB2	1415	HP:0000519	Congenital cataract
OMIM:115660	CRYBB2	1415	HP:0000572	Visual loss
OMIM:115660	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:115660	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:115660	GCNT2	2651	HP:0000572	Visual loss
OMIM:115660	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:115660	MIP	4284	HP:0000519	Congenital cataract
OMIM:115660	MIP	4284	HP:0000572	Visual loss
OMIM:115660	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:115660	CRYGD	1421	HP:0000519	Congenital cataract
OMIM:115660	CRYGD	1421	HP:0000572	Visual loss
OMIM:115660	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:115660	MAF	4094	HP:0000519	Congenital cataract
OMIM:115660	MAF	4094	HP:0000572	Visual loss
OMIM:115660	MAF	4094	HP:0000006	Autosomal dominant inheritance
OMIM:613480	VEGFC	7424	HP:0001004	Lymphedema
OMIM:613480	VEGFC	7424	HP:0001581	Recurrent skin infections
OMIM:613480	VEGFC	7424	HP:0000006	Autosomal dominant inheritance
OMIM:613480	VEGFC	7424	HP:0003829	Incomplete penetrance
OMIM:613480	VEGFC	7424	HP:0100658	Cellulitis
OMIM:613480	FLT4	2324	HP:0001004	Lymphedema
OMIM:613480	FLT4	2324	HP:0001581	Recurrent skin infections
OMIM:613480	FLT4	2324	HP:0000006	Autosomal dominant inheritance
OMIM:613480	FLT4	2324	HP:0003829	Incomplete penetrance
OMIM:613480	FLT4	2324	HP:0100658	Cellulitis
OMIM:613480	GJC2	57165	HP:0001004	Lymphedema
OMIM:613480	GJC2	57165	HP:0001581	Recurrent skin infections
OMIM:613480	GJC2	57165	HP:0000006	Autosomal dominant inheritance
OMIM:613480	GJC2	57165	HP:0003829	Incomplete penetrance
OMIM:613480	GJC2	57165	HP:0100658	Cellulitis
OMIM:606693	ATP13A2	23400	HP:0003487	Babinski sign
OMIM:606693	ATP13A2	23400	HP:0000473	Torticollis
OMIM:606693	ATP13A2	23400	HP:0001347	Hyperreflexia
OMIM:606693	ATP13A2	23400	HP:0000007	Autosomal recessive inheritance
OMIM:606693	ATP13A2	23400	HP:0000718	Aggressive behavior
OMIM:606693	ATP13A2	23400	HP:0002172	Postural instability
OMIM:606693	ATP13A2	23400	HP:0004409	Hyposmia
OMIM:606693	ATP13A2	23400	HP:0001257	Spasticity
OMIM:606693	ATP13A2	23400	HP:0000738	Hallucinations
OMIM:606693	ATP13A2	23400	HP:0001300	Parkinsonism
OMIM:606693	ATP13A2	23400	HP:0002936	Distal sensory impairment
OMIM:606693	ATP13A2	23400	HP:0000458	Anosmia
OMIM:606693	ATP13A2	23400	HP:0001250	Seizures
OMIM:606693	ATP13A2	23400	HP:0003678	Rapidly progressive
OMIM:606693	ATP13A2	23400	HP:0002385	Paraparesis
OMIM:606693	ATP13A2	23400	HP:0002063	Rigidity
OMIM:606693	ATP13A2	23400	HP:0000726	Dementia
OMIM:606693	ATP13A2	23400	HP:0000298	Mask-like facies
OMIM:606693	ATP13A2	23400	HP:0002425	Anarthria
OMIM:606693	ATP13A2	23400	HP:0001336	Myoclonus
OMIM:613612	COG5	10466	HP:0001252	Muscular hypotonia
OMIM:613612	COG5	10466	HP:0001249	Intellectual disability
OMIM:613612	COG5	10466	HP:0001272	Cerebellar atrophy
OMIM:613612	COG5	10466	HP:0000007	Autosomal recessive inheritance
OMIM:613612	COG5	10466	HP:0002078	Truncal ataxia
ORPHANET:302	TMC8	147138	HP:0001053	Hypopigmented skin patches
ORPHANET:302	TMC8	147138	HP:0200042	Skin ulcer
ORPHANET:302	TMC8	147138	HP:0200043	Verrucae
ORPHANET:302	TMC8	147138	HP:0000957	Cafe-au-lait spot
ORPHANET:302	TMC8	147138	HP:0001051	Seborrheic dermatitis
ORPHANET:302	TMC8	147138	HP:0100585	Telangiectasia of the skin
ORPHANET:302	TMC6	11322	HP:0001053	Hypopigmented skin patches
ORPHANET:302	TMC6	11322	HP:0200042	Skin ulcer
ORPHANET:302	TMC6	11322	HP:0200043	Verrucae
ORPHANET:302	TMC6	11322	HP:0000957	Cafe-au-lait spot
ORPHANET:302	TMC6	11322	HP:0001051	Seborrheic dermatitis
ORPHANET:302	TMC6	11322	HP:0100585	Telangiectasia of the skin
OMIM:614498	BRAT1	221927	HP:0002063	Rigidity
OMIM:614498	BRAT1	221927	HP:0001276	Hypertonia
OMIM:614498	BRAT1	221927	HP:0001263	Global developmental delay
OMIM:614498	BRAT1	221927	HP:0002529	Neuronal loss in central nervous system
OMIM:614498	BRAT1	221927	HP:0002171	Gliosis
OMIM:614498	BRAT1	221927	HP:0012448	Delayed myelination
OMIM:614498	BRAT1	221927	HP:0002104	Apnea
OMIM:614498	BRAT1	221927	HP:0000007	Autosomal recessive inheritance
OMIM:614498	BRAT1	221927	HP:0001662	Bradycardia
OMIM:614498	BRAT1	221927	HP:0003739	Myoclonic spasms
OMIM:614498	BRAT1	221927	HP:0002123	Generalized myoclonic seizures
OMIM:614498	BRAT1	221927	HP:0000347	Micrognathia
OMIM:614498	BRAT1	221927	HP:0002169	Clonus
OMIM:614498	BRAT1	221927	HP:0001371	Flexion contracture
OMIM:614498	BRAT1	221927	HP:0000648	Optic atrophy
OMIM:614498	BRAT1	221927	HP:0003487	Babinski sign
OMIM:614498	BRAT1	221927	HP:0000252	Microcephaly
OMIM:604218	SERPINI1	5274	HP:0001260	Dysarthria
OMIM:604218	SERPINI1	5274	HP:0002059	Cerebral atrophy
OMIM:604218	SERPINI1	5274	HP:0001336	Myoclonus
OMIM:604218	SERPINI1	5274	HP:0002529	Neuronal loss in central nervous system
OMIM:604218	SERPINI1	5274	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:604218	SERPINI1	5274	HP:0000726	Dementia
OMIM:604218	SERPINI1	5274	HP:0001298	Encephalopathy
OMIM:604218	SERPINI1	5274	HP:0000006	Autosomal dominant inheritance
OMIM:604218	SERPINI1	5274	HP:0002936	Distal sensory impairment
OMIM:604218	SERPINI1	5274	HP:0000639	Nystagmus
OMIM:604218	SERPINI1	5274	HP:0001250	Seizures
OMIM:604218	SERPINI1	5274	HP:0002171	Gliosis
ORPHANET:569	SCN1A	6323	HP:0000639	Nystagmus
ORPHANET:569	SCN1A	6323	HP:0000407	Sensorineural hearing impairment
ORPHANET:569	SCN1A	6323	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:569	SCN1A	6323	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:569	SCN1A	6323	HP:0002311	Incoordination
ORPHANET:569	SCN1A	6323	HP:0002353	EEG abnormality
ORPHANET:569	SCN1A	6323	HP:0002167	Neurological speech impairment
ORPHANET:569	SCN1A	6323	HP:0100022	Abnormality of movement
ORPHANET:569	CACNA1A	773	HP:0000639	Nystagmus
ORPHANET:569	CACNA1A	773	HP:0000407	Sensorineural hearing impairment
ORPHANET:569	CACNA1A	773	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:569	CACNA1A	773	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:569	CACNA1A	773	HP:0002311	Incoordination
ORPHANET:569	CACNA1A	773	HP:0002353	EEG abnormality
ORPHANET:569	CACNA1A	773	HP:0002167	Neurological speech impairment
ORPHANET:569	CACNA1A	773	HP:0100022	Abnormality of movement
ORPHANET:569	ATP1A2	477	HP:0000639	Nystagmus
ORPHANET:569	ATP1A2	477	HP:0000407	Sensorineural hearing impairment
ORPHANET:569	ATP1A2	477	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:569	ATP1A2	477	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:569	ATP1A2	477	HP:0002311	Incoordination
ORPHANET:569	ATP1A2	477	HP:0002353	EEG abnormality
ORPHANET:569	ATP1A2	477	HP:0002167	Neurological speech impairment
ORPHANET:569	ATP1A2	477	HP:0100022	Abnormality of movement
ORPHANET:569	PRRT2	112476	HP:0000639	Nystagmus
ORPHANET:569	PRRT2	112476	HP:0000407	Sensorineural hearing impairment
ORPHANET:569	PRRT2	112476	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:569	PRRT2	112476	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:569	PRRT2	112476	HP:0002311	Incoordination
ORPHANET:569	PRRT2	112476	HP:0002353	EEG abnormality
ORPHANET:569	PRRT2	112476	HP:0002167	Neurological speech impairment
ORPHANET:569	PRRT2	112476	HP:0100022	Abnormality of movement
OMIM:612965	DMRT1	1761	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	DMRT1	1761	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	DMRT1	1761	HP:0000133	Gonadal dysgenesis
OMIM:612965	DMRT1	1761	HP:0012245	Sex reversal
OMIM:612965	WT1	7490	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	WT1	7490	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	WT1	7490	HP:0000133	Gonadal dysgenesis
OMIM:612965	WT1	7490	HP:0012245	Sex reversal
OMIM:612965	GATA4	2626	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	GATA4	2626	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	GATA4	2626	HP:0000133	Gonadal dysgenesis
OMIM:612965	GATA4	2626	HP:0012245	Sex reversal
OMIM:612965	SOX9	6662	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	SOX9	6662	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	SOX9	6662	HP:0000133	Gonadal dysgenesis
OMIM:612965	SOX9	6662	HP:0012245	Sex reversal
OMIM:612965	SRY	6736	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	SRY	6736	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	SRY	6736	HP:0000133	Gonadal dysgenesis
OMIM:612965	SRY	6736	HP:0012245	Sex reversal
OMIM:612965	NR5A1	2516	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	NR5A1	2516	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	NR5A1	2516	HP:0000133	Gonadal dysgenesis
OMIM:612965	NR5A1	2516	HP:0012245	Sex reversal
OMIM:612965	MAP3K1	4214	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	MAP3K1	4214	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	MAP3K1	4214	HP:0000133	Gonadal dysgenesis
OMIM:612965	MAP3K1	4214	HP:0012245	Sex reversal
OMIM:612965	ZFPM2	23414	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	ZFPM2	23414	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	ZFPM2	23414	HP:0000133	Gonadal dysgenesis
OMIM:612965	ZFPM2	23414	HP:0012245	Sex reversal
OMIM:612965	CBX2	84733	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	CBX2	84733	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	CBX2	84733	HP:0000133	Gonadal dysgenesis
OMIM:612965	CBX2	84733	HP:0012245	Sex reversal
OMIM:612965	WWOX	51741	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	WWOX	51741	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	WWOX	51741	HP:0000133	Gonadal dysgenesis
OMIM:612965	WWOX	51741	HP:0012245	Sex reversal
OMIM:612965	VAMP7	6845	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	VAMP7	6845	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	VAMP7	6845	HP:0000133	Gonadal dysgenesis
OMIM:612965	VAMP7	6845	HP:0012245	Sex reversal
OMIM:612965	DHH	50846	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	DHH	50846	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	DHH	50846	HP:0000133	Gonadal dysgenesis
OMIM:612965	DHH	50846	HP:0012245	Sex reversal
OMIM:612965	NR0B1	190	HP:0001470	Sex-limited autosomal dominant
OMIM:612965	NR0B1	190	HP:0005092	Streaky metaphyseal sclerosis
OMIM:612965	NR0B1	190	HP:0000133	Gonadal dysgenesis
OMIM:612965	NR0B1	190	HP:0012245	Sex reversal
OMIM:600332	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:600332	CAV3	859	HP:0003457	EMG abnormality
OMIM:600332	CAV3	859	HP:0003712	Skeletal muscle hypertrophy
OMIM:600332	CAV3	859	HP:0003710	Exercise-induced muscle cramps
OMIM:277580	EDN3	1908	HP:0002271	Autonomic dysregulation
OMIM:277580	EDN3	1908	HP:0000007	Autosomal recessive inheritance
OMIM:277580	EDN3	1908	HP:0002415	Leukodystrophy
OMIM:277580	EDN3	1908	HP:0000639	Nystagmus
OMIM:277580	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:277580	EDN3	1908	HP:0002211	White forelock
OMIM:277580	EDN3	1908	HP:0001263	Global developmental delay
OMIM:277580	EDN3	1908	HP:0001100	Heterochromia iridis
OMIM:277580	EDN3	1908	HP:0001251	Ataxia
OMIM:277580	EDN3	1908	HP:0001271	Polyneuropathy
OMIM:277580	EDN3	1908	HP:0000006	Autosomal dominant inheritance
OMIM:277580	EDN3	1908	HP:0002216	Premature graying of hair
OMIM:277580	EDN3	1908	HP:0002226	White eyebrow
OMIM:277580	EDN3	1908	HP:0000407	Sensorineural hearing impairment
OMIM:277580	EDN3	1908	HP:0001252	Muscular hypotonia
OMIM:277580	EDN3	1908	HP:0002227	White eyelashes
OMIM:277580	EDN3	1908	HP:0001053	Hypopigmented skin patches
OMIM:277580	EDN3	1908	HP:0002313	Spastic paraparesis
OMIM:277580	EDN3	1908	HP:0000635	Blue irides
OMIM:277580	EDN3	1908	HP:0001425	Heterogeneous
OMIM:277580	EDNRB	1910	HP:0002271	Autonomic dysregulation
OMIM:277580	EDNRB	1910	HP:0000007	Autosomal recessive inheritance
OMIM:277580	EDNRB	1910	HP:0002415	Leukodystrophy
OMIM:277580	EDNRB	1910	HP:0000639	Nystagmus
OMIM:277580	EDNRB	1910	HP:0002251	Aganglionic megacolon
OMIM:277580	EDNRB	1910	HP:0002211	White forelock
OMIM:277580	EDNRB	1910	HP:0001263	Global developmental delay
OMIM:277580	EDNRB	1910	HP:0001100	Heterochromia iridis
OMIM:277580	EDNRB	1910	HP:0001251	Ataxia
OMIM:277580	EDNRB	1910	HP:0001271	Polyneuropathy
OMIM:277580	EDNRB	1910	HP:0000006	Autosomal dominant inheritance
OMIM:277580	EDNRB	1910	HP:0002216	Premature graying of hair
OMIM:277580	EDNRB	1910	HP:0002226	White eyebrow
OMIM:277580	EDNRB	1910	HP:0000407	Sensorineural hearing impairment
OMIM:277580	EDNRB	1910	HP:0001252	Muscular hypotonia
OMIM:277580	EDNRB	1910	HP:0002227	White eyelashes
OMIM:277580	EDNRB	1910	HP:0001053	Hypopigmented skin patches
OMIM:277580	EDNRB	1910	HP:0002313	Spastic paraparesis
OMIM:277580	EDNRB	1910	HP:0000635	Blue irides
OMIM:277580	EDNRB	1910	HP:0001425	Heterogeneous
OMIM:277580	SOX10	6663	HP:0002271	Autonomic dysregulation
OMIM:277580	SOX10	6663	HP:0000007	Autosomal recessive inheritance
OMIM:277580	SOX10	6663	HP:0002415	Leukodystrophy
OMIM:277580	SOX10	6663	HP:0000639	Nystagmus
OMIM:277580	SOX10	6663	HP:0002251	Aganglionic megacolon
OMIM:277580	SOX10	6663	HP:0002211	White forelock
OMIM:277580	SOX10	6663	HP:0001263	Global developmental delay
OMIM:277580	SOX10	6663	HP:0001100	Heterochromia iridis
OMIM:277580	SOX10	6663	HP:0001251	Ataxia
OMIM:277580	SOX10	6663	HP:0001271	Polyneuropathy
OMIM:277580	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:277580	SOX10	6663	HP:0002216	Premature graying of hair
OMIM:277580	SOX10	6663	HP:0002226	White eyebrow
OMIM:277580	SOX10	6663	HP:0000407	Sensorineural hearing impairment
OMIM:277580	SOX10	6663	HP:0001252	Muscular hypotonia
OMIM:277580	SOX10	6663	HP:0002227	White eyelashes
OMIM:277580	SOX10	6663	HP:0001053	Hypopigmented skin patches
OMIM:277580	SOX10	6663	HP:0002313	Spastic paraparesis
OMIM:277580	SOX10	6663	HP:0000635	Blue irides
OMIM:277580	SOX10	6663	HP:0001425	Heterogeneous
OMIM:277350	BCO1	53630	HP:0007462	Bitot spots of the conjunctiva
OMIM:277350	BCO1	53630	HP:0007502	Follicular hyperkeratosis
OMIM:277350	BCO1	53630	HP:0000662	Nyctalopia
OMIM:277350	BCO1	53630	HP:0000007	Autosomal recessive inheritance
OMIM:277350	BCO1	53630	HP:0004905	Vitamin A deficiency
OMIM:605041	CYLD	1540	HP:0002664	Neoplasm
OMIM:605041	CYLD	1540	HP:0003581	Adult onset
OMIM:605041	CYLD	1540	HP:0000006	Autosomal dominant inheritance
ORPHANET:808	ATR	545	HP:0004348	Abnormality of bone mineral density
ORPHANET:808	ATR	545	HP:0000494	Downslanted palpebral fissures
ORPHANET:808	ATR	545	HP:0007495	Prematurely aged appearance
ORPHANET:808	ATR	545	HP:0001363	Craniosynostosis
ORPHANET:808	ATR	545	HP:0010579	Cone-shaped epiphysis
ORPHANET:808	ATR	545	HP:0000252	Microcephaly
ORPHANET:808	ATR	545	HP:0000501	Glaucoma
ORPHANET:808	ATR	545	HP:0001382	Joint hypermobility
ORPHANET:808	ATR	545	HP:0001511	Intrauterine growth retardation
ORPHANET:808	ATR	545	HP:0003272	Abnormality of the hip bone
ORPHANET:808	ATR	545	HP:0000444	Convex nasal ridge
ORPHANET:808	ATR	545	HP:0000682	Abnormality of dental enamel
ORPHANET:808	ATR	545	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:808	ATR	545	HP:0000275	Narrow face
ORPHANET:808	ATR	545	HP:0000347	Micrognathia
ORPHANET:808	ATR	545	HP:0011362	Abnormal hair quantity
ORPHANET:808	ATR	545	HP:0001852	Sandal gap
ORPHANET:808	ATR	545	HP:0004322	Short stature
ORPHANET:808	ATR	545	HP:0002650	Scoliosis
ORPHANET:808	ATR	545	HP:0100543	Cognitive impairment
ORPHANET:808	ATR	545	HP:0004325	Decreased body weight
ORPHANET:808	ATR	545	HP:0009804	Reduced number of teeth
ORPHANET:808	ATR	545	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:808	CEP152	22995	HP:0004348	Abnormality of bone mineral density
ORPHANET:808	CEP152	22995	HP:0000494	Downslanted palpebral fissures
ORPHANET:808	CEP152	22995	HP:0007495	Prematurely aged appearance
ORPHANET:808	CEP152	22995	HP:0001363	Craniosynostosis
ORPHANET:808	CEP152	22995	HP:0010579	Cone-shaped epiphysis
ORPHANET:808	CEP152	22995	HP:0000252	Microcephaly
ORPHANET:808	CEP152	22995	HP:0000501	Glaucoma
ORPHANET:808	CEP152	22995	HP:0001382	Joint hypermobility
ORPHANET:808	CEP152	22995	HP:0001511	Intrauterine growth retardation
ORPHANET:808	CEP152	22995	HP:0003272	Abnormality of the hip bone
ORPHANET:808	CEP152	22995	HP:0000444	Convex nasal ridge
ORPHANET:808	CEP152	22995	HP:0000682	Abnormality of dental enamel
ORPHANET:808	CEP152	22995	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:808	CEP152	22995	HP:0000275	Narrow face
ORPHANET:808	CEP152	22995	HP:0000347	Micrognathia
ORPHANET:808	CEP152	22995	HP:0011362	Abnormal hair quantity
ORPHANET:808	CEP152	22995	HP:0001852	Sandal gap
ORPHANET:808	CEP152	22995	HP:0004322	Short stature
ORPHANET:808	CEP152	22995	HP:0002650	Scoliosis
ORPHANET:808	CEP152	22995	HP:0100543	Cognitive impairment
ORPHANET:808	CEP152	22995	HP:0004325	Decreased body weight
ORPHANET:808	CEP152	22995	HP:0009804	Reduced number of teeth
ORPHANET:808	CEP152	22995	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:808	CENPE	1062	HP:0004348	Abnormality of bone mineral density
ORPHANET:808	CENPE	1062	HP:0000494	Downslanted palpebral fissures
ORPHANET:808	CENPE	1062	HP:0007495	Prematurely aged appearance
ORPHANET:808	CENPE	1062	HP:0001363	Craniosynostosis
ORPHANET:808	CENPE	1062	HP:0010579	Cone-shaped epiphysis
ORPHANET:808	CENPE	1062	HP:0000252	Microcephaly
ORPHANET:808	CENPE	1062	HP:0000501	Glaucoma
ORPHANET:808	CENPE	1062	HP:0001382	Joint hypermobility
ORPHANET:808	CENPE	1062	HP:0001511	Intrauterine growth retardation
ORPHANET:808	CENPE	1062	HP:0003272	Abnormality of the hip bone
ORPHANET:808	CENPE	1062	HP:0000444	Convex nasal ridge
ORPHANET:808	CENPE	1062	HP:0000682	Abnormality of dental enamel
ORPHANET:808	CENPE	1062	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:808	CENPE	1062	HP:0000275	Narrow face
ORPHANET:808	CENPE	1062	HP:0000347	Micrognathia
ORPHANET:808	CENPE	1062	HP:0011362	Abnormal hair quantity
ORPHANET:808	CENPE	1062	HP:0001852	Sandal gap
ORPHANET:808	CENPE	1062	HP:0004322	Short stature
ORPHANET:808	CENPE	1062	HP:0002650	Scoliosis
ORPHANET:808	CENPE	1062	HP:0100543	Cognitive impairment
ORPHANET:808	CENPE	1062	HP:0004325	Decreased body weight
ORPHANET:808	CENPE	1062	HP:0009804	Reduced number of teeth
ORPHANET:808	CENPE	1062	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:808	CENPJ	55835	HP:0004348	Abnormality of bone mineral density
ORPHANET:808	CENPJ	55835	HP:0000494	Downslanted palpebral fissures
ORPHANET:808	CENPJ	55835	HP:0007495	Prematurely aged appearance
ORPHANET:808	CENPJ	55835	HP:0001363	Craniosynostosis
ORPHANET:808	CENPJ	55835	HP:0010579	Cone-shaped epiphysis
ORPHANET:808	CENPJ	55835	HP:0000252	Microcephaly
ORPHANET:808	CENPJ	55835	HP:0000501	Glaucoma
ORPHANET:808	CENPJ	55835	HP:0001382	Joint hypermobility
ORPHANET:808	CENPJ	55835	HP:0001511	Intrauterine growth retardation
ORPHANET:808	CENPJ	55835	HP:0003272	Abnormality of the hip bone
ORPHANET:808	CENPJ	55835	HP:0000444	Convex nasal ridge
ORPHANET:808	CENPJ	55835	HP:0000682	Abnormality of dental enamel
ORPHANET:808	CENPJ	55835	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:808	CENPJ	55835	HP:0000275	Narrow face
ORPHANET:808	CENPJ	55835	HP:0000347	Micrognathia
ORPHANET:808	CENPJ	55835	HP:0011362	Abnormal hair quantity
ORPHANET:808	CENPJ	55835	HP:0001852	Sandal gap
ORPHANET:808	CENPJ	55835	HP:0004322	Short stature
ORPHANET:808	CENPJ	55835	HP:0002650	Scoliosis
ORPHANET:808	CENPJ	55835	HP:0100543	Cognitive impairment
ORPHANET:808	CENPJ	55835	HP:0004325	Decreased body weight
ORPHANET:808	CENPJ	55835	HP:0009804	Reduced number of teeth
ORPHANET:808	CENPJ	55835	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:808	PCNT	5116	HP:0004348	Abnormality of bone mineral density
ORPHANET:808	PCNT	5116	HP:0000494	Downslanted palpebral fissures
ORPHANET:808	PCNT	5116	HP:0007495	Prematurely aged appearance
ORPHANET:808	PCNT	5116	HP:0001363	Craniosynostosis
ORPHANET:808	PCNT	5116	HP:0010579	Cone-shaped epiphysis
ORPHANET:808	PCNT	5116	HP:0000252	Microcephaly
ORPHANET:808	PCNT	5116	HP:0000501	Glaucoma
ORPHANET:808	PCNT	5116	HP:0001382	Joint hypermobility
ORPHANET:808	PCNT	5116	HP:0001511	Intrauterine growth retardation
ORPHANET:808	PCNT	5116	HP:0003272	Abnormality of the hip bone
ORPHANET:808	PCNT	5116	HP:0000444	Convex nasal ridge
ORPHANET:808	PCNT	5116	HP:0000682	Abnormality of dental enamel
ORPHANET:808	PCNT	5116	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:808	PCNT	5116	HP:0000275	Narrow face
ORPHANET:808	PCNT	5116	HP:0000347	Micrognathia
ORPHANET:808	PCNT	5116	HP:0011362	Abnormal hair quantity
ORPHANET:808	PCNT	5116	HP:0001852	Sandal gap
ORPHANET:808	PCNT	5116	HP:0004322	Short stature
ORPHANET:808	PCNT	5116	HP:0002650	Scoliosis
ORPHANET:808	PCNT	5116	HP:0100543	Cognitive impairment
ORPHANET:808	PCNT	5116	HP:0004325	Decreased body weight
ORPHANET:808	PCNT	5116	HP:0009804	Reduced number of teeth
ORPHANET:808	PCNT	5116	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:808	RBBP8	5932	HP:0004348	Abnormality of bone mineral density
ORPHANET:808	RBBP8	5932	HP:0000494	Downslanted palpebral fissures
ORPHANET:808	RBBP8	5932	HP:0007495	Prematurely aged appearance
ORPHANET:808	RBBP8	5932	HP:0001363	Craniosynostosis
ORPHANET:808	RBBP8	5932	HP:0010579	Cone-shaped epiphysis
ORPHANET:808	RBBP8	5932	HP:0000252	Microcephaly
ORPHANET:808	RBBP8	5932	HP:0000501	Glaucoma
ORPHANET:808	RBBP8	5932	HP:0001382	Joint hypermobility
ORPHANET:808	RBBP8	5932	HP:0001511	Intrauterine growth retardation
ORPHANET:808	RBBP8	5932	HP:0003272	Abnormality of the hip bone
ORPHANET:808	RBBP8	5932	HP:0000444	Convex nasal ridge
ORPHANET:808	RBBP8	5932	HP:0000682	Abnormality of dental enamel
ORPHANET:808	RBBP8	5932	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:808	RBBP8	5932	HP:0000275	Narrow face
ORPHANET:808	RBBP8	5932	HP:0000347	Micrognathia
ORPHANET:808	RBBP8	5932	HP:0011362	Abnormal hair quantity
ORPHANET:808	RBBP8	5932	HP:0001852	Sandal gap
ORPHANET:808	RBBP8	5932	HP:0004322	Short stature
ORPHANET:808	RBBP8	5932	HP:0002650	Scoliosis
ORPHANET:808	RBBP8	5932	HP:0100543	Cognitive impairment
ORPHANET:808	RBBP8	5932	HP:0004325	Decreased body weight
ORPHANET:808	RBBP8	5932	HP:0009804	Reduced number of teeth
ORPHANET:808	RBBP8	5932	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:808	PLK4	10733	HP:0004348	Abnormality of bone mineral density
ORPHANET:808	PLK4	10733	HP:0000494	Downslanted palpebral fissures
ORPHANET:808	PLK4	10733	HP:0007495	Prematurely aged appearance
ORPHANET:808	PLK4	10733	HP:0001363	Craniosynostosis
ORPHANET:808	PLK4	10733	HP:0010579	Cone-shaped epiphysis
ORPHANET:808	PLK4	10733	HP:0000252	Microcephaly
ORPHANET:808	PLK4	10733	HP:0000501	Glaucoma
ORPHANET:808	PLK4	10733	HP:0001382	Joint hypermobility
ORPHANET:808	PLK4	10733	HP:0001511	Intrauterine growth retardation
ORPHANET:808	PLK4	10733	HP:0003272	Abnormality of the hip bone
ORPHANET:808	PLK4	10733	HP:0000444	Convex nasal ridge
ORPHANET:808	PLK4	10733	HP:0000682	Abnormality of dental enamel
ORPHANET:808	PLK4	10733	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:808	PLK4	10733	HP:0000275	Narrow face
ORPHANET:808	PLK4	10733	HP:0000347	Micrognathia
ORPHANET:808	PLK4	10733	HP:0011362	Abnormal hair quantity
ORPHANET:808	PLK4	10733	HP:0001852	Sandal gap
ORPHANET:808	PLK4	10733	HP:0004322	Short stature
ORPHANET:808	PLK4	10733	HP:0002650	Scoliosis
ORPHANET:808	PLK4	10733	HP:0100543	Cognitive impairment
ORPHANET:808	PLK4	10733	HP:0004325	Decreased body weight
ORPHANET:808	PLK4	10733	HP:0009804	Reduced number of teeth
ORPHANET:808	PLK4	10733	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:808	ATRIP	84126	HP:0004348	Abnormality of bone mineral density
ORPHANET:808	ATRIP	84126	HP:0000494	Downslanted palpebral fissures
ORPHANET:808	ATRIP	84126	HP:0007495	Prematurely aged appearance
ORPHANET:808	ATRIP	84126	HP:0001363	Craniosynostosis
ORPHANET:808	ATRIP	84126	HP:0010579	Cone-shaped epiphysis
ORPHANET:808	ATRIP	84126	HP:0000252	Microcephaly
ORPHANET:808	ATRIP	84126	HP:0000501	Glaucoma
ORPHANET:808	ATRIP	84126	HP:0001382	Joint hypermobility
ORPHANET:808	ATRIP	84126	HP:0001511	Intrauterine growth retardation
ORPHANET:808	ATRIP	84126	HP:0003272	Abnormality of the hip bone
ORPHANET:808	ATRIP	84126	HP:0000444	Convex nasal ridge
ORPHANET:808	ATRIP	84126	HP:0000682	Abnormality of dental enamel
ORPHANET:808	ATRIP	84126	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:808	ATRIP	84126	HP:0000275	Narrow face
ORPHANET:808	ATRIP	84126	HP:0000347	Micrognathia
ORPHANET:808	ATRIP	84126	HP:0011362	Abnormal hair quantity
ORPHANET:808	ATRIP	84126	HP:0001852	Sandal gap
ORPHANET:808	ATRIP	84126	HP:0004322	Short stature
ORPHANET:808	ATRIP	84126	HP:0002650	Scoliosis
ORPHANET:808	ATRIP	84126	HP:0100543	Cognitive impairment
ORPHANET:808	ATRIP	84126	HP:0004325	Decreased body weight
ORPHANET:808	ATRIP	84126	HP:0009804	Reduced number of teeth
ORPHANET:808	ATRIP	84126	HP:0004209	Clinodactyly of the 5th finger
OMIM:234050	ERCC2	2068	HP:0002299	Brittle hair
OMIM:234050	ERCC2	2068	HP:0001629	Ventricular septal defect
OMIM:234050	ERCC2	2068	HP:0000252	Microcephaly
OMIM:234050	ERCC2	2068	HP:0006829	Severe muscular hypotonia
OMIM:234050	ERCC2	2068	HP:0000400	Macrotia
OMIM:234050	ERCC2	2068	HP:0000463	Anteverted nares
OMIM:234050	ERCC2	2068	HP:0000685	Hypoplasia of teeth
OMIM:234050	ERCC2	2068	HP:0000286	Epicanthus
OMIM:234050	ERCC2	2068	HP:0000639	Nystagmus
OMIM:234050	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:234050	ERCC2	2068	HP:0002120	Cerebral cortical atrophy
OMIM:234050	ERCC2	2068	HP:0001510	Growth delay
OMIM:234050	ERCC2	2068	HP:0000144	Decreased fertility
OMIM:234050	ERCC2	2068	HP:0001263	Global developmental delay
OMIM:234050	ERCC2	2068	HP:0000648	Optic atrophy
OMIM:234050	ERCC2	2068	HP:0001792	Small nail
OMIM:234050	ERCC2	2068	HP:0008070	Sparse hair
OMIM:234050	ERCC2	2068	HP:0003196	Short nose
OMIM:234050	ERCC2	2068	HP:0009886	Trichorrhexis nodosa
OMIM:234050	ERCC2	2068	HP:0001338	Partial agenesis of the corpus callosum
OMIM:234050	ERCC2	2068	HP:0001249	Intellectual disability
OMIM:234050	MPLKIP	136647	HP:0002299	Brittle hair
OMIM:234050	MPLKIP	136647	HP:0001629	Ventricular septal defect
OMIM:234050	MPLKIP	136647	HP:0000252	Microcephaly
OMIM:234050	MPLKIP	136647	HP:0006829	Severe muscular hypotonia
OMIM:234050	MPLKIP	136647	HP:0000400	Macrotia
OMIM:234050	MPLKIP	136647	HP:0000463	Anteverted nares
OMIM:234050	MPLKIP	136647	HP:0000685	Hypoplasia of teeth
OMIM:234050	MPLKIP	136647	HP:0000286	Epicanthus
OMIM:234050	MPLKIP	136647	HP:0000639	Nystagmus
OMIM:234050	MPLKIP	136647	HP:0000007	Autosomal recessive inheritance
OMIM:234050	MPLKIP	136647	HP:0002120	Cerebral cortical atrophy
OMIM:234050	MPLKIP	136647	HP:0001510	Growth delay
OMIM:234050	MPLKIP	136647	HP:0000144	Decreased fertility
OMIM:234050	MPLKIP	136647	HP:0001263	Global developmental delay
OMIM:234050	MPLKIP	136647	HP:0000648	Optic atrophy
OMIM:234050	MPLKIP	136647	HP:0001792	Small nail
OMIM:234050	MPLKIP	136647	HP:0008070	Sparse hair
OMIM:234050	MPLKIP	136647	HP:0003196	Short nose
OMIM:234050	MPLKIP	136647	HP:0009886	Trichorrhexis nodosa
OMIM:234050	MPLKIP	136647	HP:0001338	Partial agenesis of the corpus callosum
OMIM:234050	MPLKIP	136647	HP:0001249	Intellectual disability
OMIM:234050	GTF2H5	404672	HP:0002299	Brittle hair
OMIM:234050	GTF2H5	404672	HP:0001629	Ventricular septal defect
OMIM:234050	GTF2H5	404672	HP:0000252	Microcephaly
OMIM:234050	GTF2H5	404672	HP:0006829	Severe muscular hypotonia
OMIM:234050	GTF2H5	404672	HP:0000400	Macrotia
OMIM:234050	GTF2H5	404672	HP:0000463	Anteverted nares
OMIM:234050	GTF2H5	404672	HP:0000685	Hypoplasia of teeth
OMIM:234050	GTF2H5	404672	HP:0000286	Epicanthus
OMIM:234050	GTF2H5	404672	HP:0000639	Nystagmus
OMIM:234050	GTF2H5	404672	HP:0000007	Autosomal recessive inheritance
OMIM:234050	GTF2H5	404672	HP:0002120	Cerebral cortical atrophy
OMIM:234050	GTF2H5	404672	HP:0001510	Growth delay
OMIM:234050	GTF2H5	404672	HP:0000144	Decreased fertility
OMIM:234050	GTF2H5	404672	HP:0001263	Global developmental delay
OMIM:234050	GTF2H5	404672	HP:0000648	Optic atrophy
OMIM:234050	GTF2H5	404672	HP:0001792	Small nail
OMIM:234050	GTF2H5	404672	HP:0008070	Sparse hair
OMIM:234050	GTF2H5	404672	HP:0003196	Short nose
OMIM:234050	GTF2H5	404672	HP:0009886	Trichorrhexis nodosa
OMIM:234050	GTF2H5	404672	HP:0001338	Partial agenesis of the corpus callosum
OMIM:234050	GTF2H5	404672	HP:0001249	Intellectual disability
OMIM:234050	ERCC3	2071	HP:0002299	Brittle hair
OMIM:234050	ERCC3	2071	HP:0001629	Ventricular septal defect
OMIM:234050	ERCC3	2071	HP:0000252	Microcephaly
OMIM:234050	ERCC3	2071	HP:0006829	Severe muscular hypotonia
OMIM:234050	ERCC3	2071	HP:0000400	Macrotia
OMIM:234050	ERCC3	2071	HP:0000463	Anteverted nares
OMIM:234050	ERCC3	2071	HP:0000685	Hypoplasia of teeth
OMIM:234050	ERCC3	2071	HP:0000286	Epicanthus
OMIM:234050	ERCC3	2071	HP:0000639	Nystagmus
OMIM:234050	ERCC3	2071	HP:0000007	Autosomal recessive inheritance
OMIM:234050	ERCC3	2071	HP:0002120	Cerebral cortical atrophy
OMIM:234050	ERCC3	2071	HP:0001510	Growth delay
OMIM:234050	ERCC3	2071	HP:0000144	Decreased fertility
OMIM:234050	ERCC3	2071	HP:0001263	Global developmental delay
OMIM:234050	ERCC3	2071	HP:0000648	Optic atrophy
OMIM:234050	ERCC3	2071	HP:0001792	Small nail
OMIM:234050	ERCC3	2071	HP:0008070	Sparse hair
OMIM:234050	ERCC3	2071	HP:0003196	Short nose
OMIM:234050	ERCC3	2071	HP:0009886	Trichorrhexis nodosa
OMIM:234050	ERCC3	2071	HP:0001338	Partial agenesis of the corpus callosum
OMIM:234050	ERCC3	2071	HP:0001249	Intellectual disability
OMIM:234050	RNF113A	7737	HP:0002299	Brittle hair
OMIM:234050	RNF113A	7737	HP:0001629	Ventricular septal defect
OMIM:234050	RNF113A	7737	HP:0000252	Microcephaly
OMIM:234050	RNF113A	7737	HP:0006829	Severe muscular hypotonia
OMIM:234050	RNF113A	7737	HP:0000400	Macrotia
OMIM:234050	RNF113A	7737	HP:0000463	Anteverted nares
OMIM:234050	RNF113A	7737	HP:0000685	Hypoplasia of teeth
OMIM:234050	RNF113A	7737	HP:0000286	Epicanthus
OMIM:234050	RNF113A	7737	HP:0000639	Nystagmus
OMIM:234050	RNF113A	7737	HP:0000007	Autosomal recessive inheritance
OMIM:234050	RNF113A	7737	HP:0002120	Cerebral cortical atrophy
OMIM:234050	RNF113A	7737	HP:0001510	Growth delay
OMIM:234050	RNF113A	7737	HP:0000144	Decreased fertility
OMIM:234050	RNF113A	7737	HP:0001263	Global developmental delay
OMIM:234050	RNF113A	7737	HP:0000648	Optic atrophy
OMIM:234050	RNF113A	7737	HP:0001792	Small nail
OMIM:234050	RNF113A	7737	HP:0008070	Sparse hair
OMIM:234050	RNF113A	7737	HP:0003196	Short nose
OMIM:234050	RNF113A	7737	HP:0009886	Trichorrhexis nodosa
OMIM:234050	RNF113A	7737	HP:0001338	Partial agenesis of the corpus callosum
OMIM:234050	RNF113A	7737	HP:0001249	Intellectual disability
OMIM:156550	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:156550	COL2A1	1280	HP:0004327	Abnormality of the vitreous humor
OMIM:156550	COL2A1	1280	HP:0000488	Retinopathy
OMIM:156550	COL2A1	1280	HP:0003015	Flared metaphysis
OMIM:156550	COL2A1	1280	HP:0000311	Round face
OMIM:156550	COL2A1	1280	HP:0002663	Delayed epiphyseal ossification
OMIM:156550	COL2A1	1280	HP:0003273	Hip contracture
OMIM:156550	COL2A1	1280	HP:0000518	Cataract
OMIM:156550	COL2A1	1280	HP:0000023	Inguinal hernia
OMIM:156550	COL2A1	1280	HP:0002827	Hip dislocation
OMIM:156550	COL2A1	1280	HP:0002808	Kyphosis
OMIM:156550	COL2A1	1280	HP:0002779	Tracheomalacia
OMIM:156550	COL2A1	1280	HP:0002098	Respiratory distress
OMIM:156550	COL2A1	1280	HP:0000175	Cleft palate
OMIM:156550	COL2A1	1280	HP:0001288	Gait disturbance
OMIM:156550	COL2A1	1280	HP:0005280	Depressed nasal bridge
OMIM:156550	COL2A1	1280	HP:0001083	Ectopia lentis
OMIM:156550	COL2A1	1280	HP:0000272	Malar flattening
OMIM:156550	COL2A1	1280	HP:0000365	Hearing impairment
OMIM:156550	COL2A1	1280	HP:0100625	Enlarged thorax
OMIM:156550	COL2A1	1280	HP:0000545	Myopia
OMIM:156550	COL2A1	1280	HP:0001270	Motor delay
OMIM:156550	COL2A1	1280	HP:0002983	Micromelia
OMIM:156550	COL2A1	1280	HP:0003307	Hyperlordosis
OMIM:156550	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:156550	COL2A1	1280	HP:0001537	Umbilical hernia
OMIM:156550	COL2A1	1280	HP:0000403	Recurrent otitis media
OMIM:156550	COL2A1	1280	HP:0002812	Coxa vara
OMIM:156550	COL2A1	1280	HP:0000347	Micrognathia
OMIM:156550	COL2A1	1280	HP:0002650	Scoliosis
OMIM:156550	COL2A1	1280	HP:0010306	Short thorax
OMIM:156550	COL2A1	1280	HP:0002777	Tracheal stenosis
OMIM:156550	COL2A1	1280	HP:0002823	Abnormality of the femur
OMIM:156550	COL2A1	1280	HP:0000520	Proptosis
OMIM:156550	COL2A1	1280	HP:0000470	Short neck
OMIM:156550	COL2A1	1280	HP:0002093	Respiratory insufficiency
OMIM:156550	COL2A1	1280	HP:0002758	Osteoarthritis
OMIM:156550	COL2A1	1280	HP:0003272	Abnormality of the hip bone
OMIM:156550	COL2A1	1280	HP:0000501	Glaucoma
OMIM:156550	COL2A1	1280	HP:0003417	Coronal cleft vertebrae
OMIM:156550	COL2A1	1280	HP:0000162	Glossoptosis
OMIM:156550	COL2A1	1280	HP:0001376	Limitation of joint mobility
OMIM:156550	COL2A1	1280	HP:0002652	Skeletal dysplasia
OMIM:156550	COL2A1	1280	HP:0000541	Retinal detachment
OMIM:156550	COL2A1	1280	HP:0000508	Ptosis
OMIM:156550	COL2A1	1280	HP:0004322	Short stature
OMIM:156550	COL2A1	1280	HP:0000405	Conductive hearing impairment
OMIM:156550	COL2A1	1280	HP:0040199	Flat midface
OMIM:156550	COL2A1	1280	HP:0003521	Disproportionate short-trunk short stature
OMIM:614321	CAV3	859	HP:0001761	Pes cavus
OMIM:614321	CAV3	859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614321	CAV3	859	HP:0000467	Neck muscle weakness
OMIM:614321	CAV3	859	HP:0008981	Calf muscle hypertrophy
OMIM:614321	CAV3	859	HP:0000006	Autosomal dominant inheritance
ORPHANET:777	ZNF711	7552	HP:0100543	Cognitive impairment
ORPHANET:777	IL1RAPL1	11141	HP:0100543	Cognitive impairment
ORPHANET:777	ACSL4	2182	HP:0100543	Cognitive impairment
ORPHANET:777	PAK3	5063	HP:0100543	Cognitive impairment
ORPHANET:777	SYP	6855	HP:0100543	Cognitive impairment
ORPHANET:777	FTSJ1	24140	HP:0100543	Cognitive impairment
ORPHANET:777	DLG3	1741	HP:0100543	Cognitive impairment
ORPHANET:777	PTCHD1	139411	HP:0100543	Cognitive impairment
ORPHANET:777	UPF3B	65109	HP:0100543	Cognitive impairment
ORPHANET:777	ZNF81	347344	HP:0100543	Cognitive impairment
ORPHANET:777	RAB39B	116442	HP:0100543	Cognitive impairment
ORPHANET:777	DMD	1756	HP:0100543	Cognitive impairment
ORPHANET:777	MAGT1	84061	HP:0100543	Cognitive impairment
ORPHANET:777	MID2	11043	HP:0100543	Cognitive impairment
ORPHANET:777	GDI1	2664	HP:0100543	Cognitive impairment
ORPHANET:777	ZNF41	7592	HP:0100543	Cognitive impairment
ORPHANET:777	MECP2	4204	HP:0100543	Cognitive impairment
ORPHANET:777	HCFC1	3054	HP:0100543	Cognitive impairment
ORPHANET:777	USP9X	8239	HP:0100543	Cognitive impairment
ORPHANET:777	MED12	9968	HP:0100543	Cognitive impairment
ORPHANET:777	ZNF674	641339	HP:0100543	Cognitive impairment
ORPHANET:777	ARHGEF6	9459	HP:0100543	Cognitive impairment
ORPHANET:777	RPS6KA3	6197	HP:0100543	Cognitive impairment
ORPHANET:777	IQSEC2	23096	HP:0100543	Cognitive impairment
ORPHANET:777	AGTR2	186	HP:0100543	Cognitive impairment
ORPHANET:777	ARX	170302	HP:0100543	Cognitive impairment
ORPHANET:777	ALG13	79868	HP:0100543	Cognitive impairment
ORPHANET:777	TSPAN7	7102	HP:0100543	Cognitive impairment
OMIM:145000	CDC73	79577	HP:0000006	Autosomal dominant inheritance
OMIM:145000	CDC73	79577	HP:0003072	Hypercalcemia
OMIM:145000	MEN1	4221	HP:0000006	Autosomal dominant inheritance
OMIM:145000	MEN1	4221	HP:0003072	Hypercalcemia
OMIM:268900	SARDH	1757	HP:0000007	Autosomal recessive inheritance
OMIM:614990	PCDH15	65217	HP:0001751	Vestibular dysfunction
OMIM:614990	PCDH15	65217	HP:0000510	Rod-cone dystrophy
OMIM:614990	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:614990	PCDH15	65217	HP:0001270	Motor delay
OMIM:614990	PCDH15	65217	HP:0003577	Congenital onset
OMIM:614990	USH1C	10083	HP:0001751	Vestibular dysfunction
OMIM:614990	USH1C	10083	HP:0000510	Rod-cone dystrophy
OMIM:614990	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:614990	USH1C	10083	HP:0001270	Motor delay
OMIM:614990	USH1C	10083	HP:0003577	Congenital onset
OMIM:614990	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:614990	CIB2	10518	HP:0000510	Rod-cone dystrophy
OMIM:614990	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614990	CIB2	10518	HP:0001270	Motor delay
OMIM:614990	CIB2	10518	HP:0003577	Congenital onset
OMIM:614990	MYO7A	4647	HP:0001751	Vestibular dysfunction
OMIM:614990	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:614990	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:614990	MYO7A	4647	HP:0001270	Motor delay
OMIM:614990	MYO7A	4647	HP:0003577	Congenital onset
OMIM:614990	CDH23	64072	HP:0001751	Vestibular dysfunction
OMIM:614990	CDH23	64072	HP:0000510	Rod-cone dystrophy
OMIM:614990	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:614990	CDH23	64072	HP:0001270	Motor delay
OMIM:614990	CDH23	64072	HP:0003577	Congenital onset
OMIM:614990	USH1G	124590	HP:0001751	Vestibular dysfunction
OMIM:614990	USH1G	124590	HP:0000510	Rod-cone dystrophy
OMIM:614990	USH1G	124590	HP:0000007	Autosomal recessive inheritance
OMIM:614990	USH1G	124590	HP:0001270	Motor delay
OMIM:614990	USH1G	124590	HP:0003577	Congenital onset
OMIM:500002	TRNE	4556	HP:0003236	Elevated serum creatine phosphokinase
OMIM:500002	TRNE	4556	HP:0003458	EMG: myopathic abnormalities
OMIM:500002	TRNE	4556	HP:0005978	Type II diabetes mellitus
OMIM:500002	TRNE	4556	HP:0001260	Dysarthria
OMIM:500002	TRNE	4556	HP:0001251	Ataxia
OMIM:500002	TRNE	4556	HP:0001270	Motor delay
OMIM:500002	TRNE	4556	HP:0003812	Phenotypic variability
OMIM:500002	TRNE	4556	HP:0001252	Muscular hypotonia
OMIM:500002	TRNE	4556	HP:0001265	Hyporeflexia
OMIM:500002	TRNE	4556	HP:0010628	Facial palsy
OMIM:500002	TRNE	4556	HP:0001427	Mitochondrial inheritance
OMIM:500002	TRNE	4556	HP:0003701	Proximal muscle weakness
OMIM:500002	TRNE	4556	HP:0007126	Proximal amyotrophy
OMIM:115430	TTR	7276	HP:0009830	Peripheral neuropathy
OMIM:115430	TTR	7276	HP:0000006	Autosomal dominant inheritance
OMIM:608030	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:608030	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	TREM2	54209	HP:0001288	Gait disturbance
OMIM:608030	TREM2	54209	HP:0002380	Fasciculations
OMIM:608030	TREM2	54209	HP:0001265	Hyporeflexia
OMIM:608030	TREM2	54209	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	TREM2	54209	HP:0007126	Proximal amyotrophy
OMIM:608030	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:608030	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	VAPB	9217	HP:0001288	Gait disturbance
OMIM:608030	VAPB	9217	HP:0002380	Fasciculations
OMIM:608030	VAPB	9217	HP:0001265	Hyporeflexia
OMIM:608030	VAPB	9217	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	VAPB	9217	HP:0007126	Proximal amyotrophy
OMIM:608030	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:608030	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	PON1	5444	HP:0001288	Gait disturbance
OMIM:608030	PON1	5444	HP:0002380	Fasciculations
OMIM:608030	PON1	5444	HP:0001265	Hyporeflexia
OMIM:608030	PON1	5444	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	PON1	5444	HP:0007126	Proximal amyotrophy
OMIM:608030	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:608030	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	PON2	5445	HP:0001288	Gait disturbance
OMIM:608030	PON2	5445	HP:0002380	Fasciculations
OMIM:608030	PON2	5445	HP:0001265	Hyporeflexia
OMIM:608030	PON2	5445	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	PON2	5445	HP:0007126	Proximal amyotrophy
OMIM:608030	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:608030	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	PON3	5446	HP:0001288	Gait disturbance
OMIM:608030	PON3	5446	HP:0002380	Fasciculations
OMIM:608030	PON3	5446	HP:0001265	Hyporeflexia
OMIM:608030	PON3	5446	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	PON3	5446	HP:0007126	Proximal amyotrophy
OMIM:608030	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:608030	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	NEFH	4744	HP:0001288	Gait disturbance
OMIM:608030	NEFH	4744	HP:0002380	Fasciculations
OMIM:608030	NEFH	4744	HP:0001265	Hyporeflexia
OMIM:608030	NEFH	4744	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	NEFH	4744	HP:0007126	Proximal amyotrophy
OMIM:608030	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:608030	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	DAO	1610	HP:0001288	Gait disturbance
OMIM:608030	DAO	1610	HP:0002380	Fasciculations
OMIM:608030	DAO	1610	HP:0001265	Hyporeflexia
OMIM:608030	DAO	1610	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	DAO	1610	HP:0007126	Proximal amyotrophy
OMIM:608030	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:608030	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	TARDBP	23435	HP:0001288	Gait disturbance
OMIM:608030	TARDBP	23435	HP:0002380	Fasciculations
OMIM:608030	TARDBP	23435	HP:0001265	Hyporeflexia
OMIM:608030	TARDBP	23435	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	TARDBP	23435	HP:0007126	Proximal amyotrophy
OMIM:608030	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:608030	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	PPARGC1A	10891	HP:0001288	Gait disturbance
OMIM:608030	PPARGC1A	10891	HP:0002380	Fasciculations
OMIM:608030	PPARGC1A	10891	HP:0001265	Hyporeflexia
OMIM:608030	PPARGC1A	10891	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	PPARGC1A	10891	HP:0007126	Proximal amyotrophy
OMIM:608030	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:608030	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	CHCHD10	400916	HP:0001288	Gait disturbance
OMIM:608030	CHCHD10	400916	HP:0002380	Fasciculations
OMIM:608030	CHCHD10	400916	HP:0001265	Hyporeflexia
OMIM:608030	CHCHD10	400916	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	CHCHD10	400916	HP:0007126	Proximal amyotrophy
OMIM:608030	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:608030	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	ERBB4	2066	HP:0001288	Gait disturbance
OMIM:608030	ERBB4	2066	HP:0002380	Fasciculations
OMIM:608030	ERBB4	2066	HP:0001265	Hyporeflexia
OMIM:608030	ERBB4	2066	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	ERBB4	2066	HP:0007126	Proximal amyotrophy
OMIM:608030	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:608030	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	OPTN	10133	HP:0001288	Gait disturbance
OMIM:608030	OPTN	10133	HP:0002380	Fasciculations
OMIM:608030	OPTN	10133	HP:0001265	Hyporeflexia
OMIM:608030	OPTN	10133	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	OPTN	10133	HP:0007126	Proximal amyotrophy
OMIM:608030	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:608030	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	FUS	2521	HP:0001288	Gait disturbance
OMIM:608030	FUS	2521	HP:0002380	Fasciculations
OMIM:608030	FUS	2521	HP:0001265	Hyporeflexia
OMIM:608030	FUS	2521	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	FUS	2521	HP:0007126	Proximal amyotrophy
OMIM:608030	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:608030	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	UBQLN2	29978	HP:0001288	Gait disturbance
OMIM:608030	UBQLN2	29978	HP:0002380	Fasciculations
OMIM:608030	UBQLN2	29978	HP:0001265	Hyporeflexia
OMIM:608030	UBQLN2	29978	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	UBQLN2	29978	HP:0007126	Proximal amyotrophy
OMIM:608030	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:608030	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	ANG	283	HP:0001288	Gait disturbance
OMIM:608030	ANG	283	HP:0002380	Fasciculations
OMIM:608030	ANG	283	HP:0001265	Hyporeflexia
OMIM:608030	ANG	283	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	ANG	283	HP:0007126	Proximal amyotrophy
OMIM:608030	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:608030	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	C9ORF72	203228	HP:0001288	Gait disturbance
OMIM:608030	C9ORF72	203228	HP:0002380	Fasciculations
OMIM:608030	C9ORF72	203228	HP:0001265	Hyporeflexia
OMIM:608030	C9ORF72	203228	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	C9ORF72	203228	HP:0007126	Proximal amyotrophy
OMIM:608030	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:608030	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	PFN1	5216	HP:0001288	Gait disturbance
OMIM:608030	PFN1	5216	HP:0002380	Fasciculations
OMIM:608030	PFN1	5216	HP:0001265	Hyporeflexia
OMIM:608030	PFN1	5216	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	PFN1	5216	HP:0007126	Proximal amyotrophy
OMIM:608030	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:608030	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	ATXN2	6311	HP:0001288	Gait disturbance
OMIM:608030	ATXN2	6311	HP:0002380	Fasciculations
OMIM:608030	ATXN2	6311	HP:0001265	Hyporeflexia
OMIM:608030	ATXN2	6311	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	ATXN2	6311	HP:0007126	Proximal amyotrophy
OMIM:608030	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:608030	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	DCTN1	1639	HP:0001288	Gait disturbance
OMIM:608030	DCTN1	1639	HP:0002380	Fasciculations
OMIM:608030	DCTN1	1639	HP:0001265	Hyporeflexia
OMIM:608030	DCTN1	1639	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	DCTN1	1639	HP:0007126	Proximal amyotrophy
OMIM:608030	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:608030	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	FIG4	9896	HP:0001288	Gait disturbance
OMIM:608030	FIG4	9896	HP:0002380	Fasciculations
OMIM:608030	FIG4	9896	HP:0001265	Hyporeflexia
OMIM:608030	FIG4	9896	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	FIG4	9896	HP:0007126	Proximal amyotrophy
OMIM:608030	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:608030	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	HNRNPA1	3178	HP:0001288	Gait disturbance
OMIM:608030	HNRNPA1	3178	HP:0002380	Fasciculations
OMIM:608030	HNRNPA1	3178	HP:0001265	Hyporeflexia
OMIM:608030	HNRNPA1	3178	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	HNRNPA1	3178	HP:0007126	Proximal amyotrophy
OMIM:608030	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:608030	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	SQSTM1	8878	HP:0001288	Gait disturbance
OMIM:608030	SQSTM1	8878	HP:0002380	Fasciculations
OMIM:608030	SQSTM1	8878	HP:0001265	Hyporeflexia
OMIM:608030	SQSTM1	8878	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	SQSTM1	8878	HP:0007126	Proximal amyotrophy
OMIM:608030	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:608030	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	UNC13A	23025	HP:0001288	Gait disturbance
OMIM:608030	UNC13A	23025	HP:0002380	Fasciculations
OMIM:608030	UNC13A	23025	HP:0001265	Hyporeflexia
OMIM:608030	UNC13A	23025	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	UNC13A	23025	HP:0007126	Proximal amyotrophy
OMIM:608030	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:608030	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	TBK1	29110	HP:0001288	Gait disturbance
OMIM:608030	TBK1	29110	HP:0002380	Fasciculations
OMIM:608030	TBK1	29110	HP:0001265	Hyporeflexia
OMIM:608030	TBK1	29110	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	TBK1	29110	HP:0007126	Proximal amyotrophy
OMIM:608030	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:608030	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	MATR3	9782	HP:0001288	Gait disturbance
OMIM:608030	MATR3	9782	HP:0002380	Fasciculations
OMIM:608030	MATR3	9782	HP:0001265	Hyporeflexia
OMIM:608030	MATR3	9782	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	MATR3	9782	HP:0007126	Proximal amyotrophy
OMIM:608030	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:608030	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	VCP	7415	HP:0001288	Gait disturbance
OMIM:608030	VCP	7415	HP:0002380	Fasciculations
OMIM:608030	VCP	7415	HP:0001265	Hyporeflexia
OMIM:608030	VCP	7415	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	VCP	7415	HP:0007126	Proximal amyotrophy
OMIM:608030	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:608030	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	SOD1	6647	HP:0001288	Gait disturbance
OMIM:608030	SOD1	6647	HP:0002380	Fasciculations
OMIM:608030	SOD1	6647	HP:0001265	Hyporeflexia
OMIM:608030	SOD1	6647	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	SOD1	6647	HP:0007126	Proximal amyotrophy
OMIM:608030	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:608030	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	CHMP2B	25978	HP:0001288	Gait disturbance
OMIM:608030	CHMP2B	25978	HP:0002380	Fasciculations
OMIM:608030	CHMP2B	25978	HP:0001265	Hyporeflexia
OMIM:608030	CHMP2B	25978	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	CHMP2B	25978	HP:0007126	Proximal amyotrophy
OMIM:608030	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:608030	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608030	PRPH	5630	HP:0001288	Gait disturbance
OMIM:608030	PRPH	5630	HP:0002380	Fasciculations
OMIM:608030	PRPH	5630	HP:0001265	Hyporeflexia
OMIM:608030	PRPH	5630	HP:0002529	Neuronal loss in central nervous system
OMIM:608030	PRPH	5630	HP:0007126	Proximal amyotrophy
OMIM:115300	BCO1	53630	HP:0000006	Autosomal dominant inheritance
OMIM:115300	BCO1	53630	HP:0000951	Abnormality of the skin
OMIM:115300	BCO1	53630	HP:0004905	Vitamin A deficiency
OMIM:607541	TGFBI	7045	HP:0007663	Reduced visual acuity
OMIM:607541	TGFBI	7045	HP:0001149	Lattice corneal dystrophy
OMIM:607541	TGFBI	7045	HP:0000505	Visual impairment
OMIM:607541	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:168000	SDHA	6389	HP:0003581	Adult onset
OMIM:168000	SDHA	6389	HP:0000405	Conductive hearing impairment
OMIM:168000	SDHA	6389	HP:0000975	Hyperhidrosis
OMIM:168000	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:168000	SDHA	6389	HP:0001962	Palpitations
OMIM:168000	SDHA	6389	HP:0001649	Tachycardia
OMIM:168000	SDHAF2	54949	HP:0003581	Adult onset
OMIM:168000	SDHAF2	54949	HP:0000405	Conductive hearing impairment
OMIM:168000	SDHAF2	54949	HP:0000975	Hyperhidrosis
OMIM:168000	SDHAF2	54949	HP:0000006	Autosomal dominant inheritance
OMIM:168000	SDHAF2	54949	HP:0001962	Palpitations
OMIM:168000	SDHAF2	54949	HP:0001649	Tachycardia
OMIM:168000	MAX	4149	HP:0003581	Adult onset
OMIM:168000	MAX	4149	HP:0000405	Conductive hearing impairment
OMIM:168000	MAX	4149	HP:0000975	Hyperhidrosis
OMIM:168000	MAX	4149	HP:0000006	Autosomal dominant inheritance
OMIM:168000	MAX	4149	HP:0001962	Palpitations
OMIM:168000	MAX	4149	HP:0001649	Tachycardia
OMIM:168000	SDHB	6390	HP:0003581	Adult onset
OMIM:168000	SDHB	6390	HP:0000405	Conductive hearing impairment
OMIM:168000	SDHB	6390	HP:0000975	Hyperhidrosis
OMIM:168000	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:168000	SDHB	6390	HP:0001962	Palpitations
OMIM:168000	SDHB	6390	HP:0001649	Tachycardia
OMIM:168000	TMEM127	55654	HP:0003581	Adult onset
OMIM:168000	TMEM127	55654	HP:0000405	Conductive hearing impairment
OMIM:168000	TMEM127	55654	HP:0000975	Hyperhidrosis
OMIM:168000	TMEM127	55654	HP:0000006	Autosomal dominant inheritance
OMIM:168000	TMEM127	55654	HP:0001962	Palpitations
OMIM:168000	TMEM127	55654	HP:0001649	Tachycardia
OMIM:168000	SDHC	6391	HP:0003581	Adult onset
OMIM:168000	SDHC	6391	HP:0000405	Conductive hearing impairment
OMIM:168000	SDHC	6391	HP:0000975	Hyperhidrosis
OMIM:168000	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:168000	SDHC	6391	HP:0001962	Palpitations
OMIM:168000	SDHC	6391	HP:0001649	Tachycardia
OMIM:168000	SDHD	6392	HP:0003581	Adult onset
OMIM:168000	SDHD	6392	HP:0000405	Conductive hearing impairment
OMIM:168000	SDHD	6392	HP:0000975	Hyperhidrosis
OMIM:168000	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:168000	SDHD	6392	HP:0001962	Palpitations
OMIM:168000	SDHD	6392	HP:0001649	Tachycardia
OMIM:168000	RET	5979	HP:0003581	Adult onset
OMIM:168000	RET	5979	HP:0000405	Conductive hearing impairment
OMIM:168000	RET	5979	HP:0000975	Hyperhidrosis
OMIM:168000	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:168000	RET	5979	HP:0001962	Palpitations
OMIM:168000	RET	5979	HP:0001649	Tachycardia
OMIM:168000	FH	2271	HP:0003581	Adult onset
OMIM:168000	FH	2271	HP:0000405	Conductive hearing impairment
OMIM:168000	FH	2271	HP:0000975	Hyperhidrosis
OMIM:168000	FH	2271	HP:0000006	Autosomal dominant inheritance
OMIM:168000	FH	2271	HP:0001962	Palpitations
OMIM:168000	FH	2271	HP:0001649	Tachycardia
OMIM:312750	FOXG1	2290	HP:0001288	Gait disturbance
OMIM:312750	FOXG1	2290	HP:0001337	Tremor
OMIM:312750	FOXG1	2290	HP:0002066	Gait ataxia
OMIM:312750	FOXG1	2290	HP:0002020	Gastroesophageal reflux
OMIM:312750	FOXG1	2290	HP:0004322	Short stature
OMIM:312750	FOXG1	2290	HP:0000252	Microcephaly
OMIM:312750	FOXG1	2290	HP:0002270	Abnormality of the autonomic nervous system
OMIM:312750	FOXG1	2290	HP:0002808	Kyphosis
OMIM:312750	FOXG1	2290	HP:0002120	Cerebral cortical atrophy
OMIM:312750	FOXG1	2290	HP:0002240	Hepatomegaly
OMIM:312750	FOXG1	2290	HP:0002078	Truncal ataxia
OMIM:312750	FOXG1	2290	HP:0001332	Dystonia
OMIM:312750	FOXG1	2290	HP:0002376	Developmental regression
OMIM:312750	FOXG1	2290	HP:0011675	Arrhythmia
OMIM:312750	FOXG1	2290	HP:0003202	Skeletal muscle atrophy
OMIM:312750	FOXG1	2290	HP:0002650	Scoliosis
OMIM:312750	FOXG1	2290	HP:0002311	Incoordination
OMIM:312750	FOXG1	2290	HP:0001324	Muscle weakness
OMIM:312750	FOXG1	2290	HP:0000164	Abnormality of the teeth
OMIM:312750	FOXG1	2290	HP:0002167	Neurological speech impairment
OMIM:312750	FOXG1	2290	HP:0001773	Short foot
OMIM:312750	FOXG1	2290	HP:0002104	Apnea
OMIM:312750	FOXG1	2290	HP:0000717	Autism
OMIM:312750	FOXG1	2290	HP:0000478	Abnormality of the eye
OMIM:312750	FOXG1	2290	HP:0001423	X-linked dominant inheritance
OMIM:312750	FOXG1	2290	HP:0000733	Stereotypic behavior
OMIM:312750	FOXG1	2290	HP:0001276	Hypertonia
OMIM:312750	FOXG1	2290	HP:0100716	Self-injurious behavior
OMIM:312750	FOXG1	2290	HP:0001250	Seizures
OMIM:312750	FOXG1	2290	HP:0004374	Hemiplegia/hemiparesis
OMIM:312750	FOXG1	2290	HP:0002019	Constipation
OMIM:312750	FOXG1	2290	HP:0005135	EKG: T-wave abnormalities
OMIM:312750	FOXG1	2290	HP:0005484	Postnatal microcephaly
OMIM:312750	FOXG1	2290	HP:0005184	Prolonged QTc interval
OMIM:312750	FOXG1	2290	HP:0002353	EEG abnormality
OMIM:312750	FOXG1	2290	HP:0002093	Respiratory insufficiency
OMIM:312750	FOXG1	2290	HP:0000729	Autistic behavior
OMIM:312750	FOXG1	2290	HP:0001376	Limitation of joint mobility
OMIM:312750	FOXG1	2290	HP:0002187	Intellectual disability, profound
OMIM:312750	FOXG1	2290	HP:0004349	Reduced bone mineral density
OMIM:312750	FOXG1	2290	HP:0001608	Abnormality of the voice
OMIM:312750	FOXG1	2290	HP:0001257	Spasticity
OMIM:312750	FOXG1	2290	HP:0002360	Sleep disturbance
OMIM:312750	NTNG1	22854	HP:0001288	Gait disturbance
OMIM:312750	NTNG1	22854	HP:0001337	Tremor
OMIM:312750	NTNG1	22854	HP:0002066	Gait ataxia
OMIM:312750	NTNG1	22854	HP:0002020	Gastroesophageal reflux
OMIM:312750	NTNG1	22854	HP:0004322	Short stature
OMIM:312750	NTNG1	22854	HP:0000252	Microcephaly
OMIM:312750	NTNG1	22854	HP:0002270	Abnormality of the autonomic nervous system
OMIM:312750	NTNG1	22854	HP:0002808	Kyphosis
OMIM:312750	NTNG1	22854	HP:0002120	Cerebral cortical atrophy
OMIM:312750	NTNG1	22854	HP:0002240	Hepatomegaly
OMIM:312750	NTNG1	22854	HP:0002078	Truncal ataxia
OMIM:312750	NTNG1	22854	HP:0001332	Dystonia
OMIM:312750	NTNG1	22854	HP:0002376	Developmental regression
OMIM:312750	NTNG1	22854	HP:0011675	Arrhythmia
OMIM:312750	NTNG1	22854	HP:0003202	Skeletal muscle atrophy
OMIM:312750	NTNG1	22854	HP:0002650	Scoliosis
OMIM:312750	NTNG1	22854	HP:0002311	Incoordination
OMIM:312750	NTNG1	22854	HP:0001324	Muscle weakness
OMIM:312750	NTNG1	22854	HP:0000164	Abnormality of the teeth
OMIM:312750	NTNG1	22854	HP:0002167	Neurological speech impairment
OMIM:312750	NTNG1	22854	HP:0001773	Short foot
OMIM:312750	NTNG1	22854	HP:0002104	Apnea
OMIM:312750	NTNG1	22854	HP:0000717	Autism
OMIM:312750	NTNG1	22854	HP:0000478	Abnormality of the eye
OMIM:312750	NTNG1	22854	HP:0001423	X-linked dominant inheritance
OMIM:312750	NTNG1	22854	HP:0000733	Stereotypic behavior
OMIM:312750	NTNG1	22854	HP:0001276	Hypertonia
OMIM:312750	NTNG1	22854	HP:0100716	Self-injurious behavior
OMIM:312750	NTNG1	22854	HP:0001250	Seizures
OMIM:312750	NTNG1	22854	HP:0004374	Hemiplegia/hemiparesis
OMIM:312750	NTNG1	22854	HP:0002019	Constipation
OMIM:312750	NTNG1	22854	HP:0005135	EKG: T-wave abnormalities
OMIM:312750	NTNG1	22854	HP:0005484	Postnatal microcephaly
OMIM:312750	NTNG1	22854	HP:0005184	Prolonged QTc interval
OMIM:312750	NTNG1	22854	HP:0002353	EEG abnormality
OMIM:312750	NTNG1	22854	HP:0002093	Respiratory insufficiency
OMIM:312750	NTNG1	22854	HP:0000729	Autistic behavior
OMIM:312750	NTNG1	22854	HP:0001376	Limitation of joint mobility
OMIM:312750	NTNG1	22854	HP:0002187	Intellectual disability, profound
OMIM:312750	NTNG1	22854	HP:0004349	Reduced bone mineral density
OMIM:312750	NTNG1	22854	HP:0001608	Abnormality of the voice
OMIM:312750	NTNG1	22854	HP:0001257	Spasticity
OMIM:312750	NTNG1	22854	HP:0002360	Sleep disturbance
OMIM:312750	CDKL5	6792	HP:0001288	Gait disturbance
OMIM:312750	CDKL5	6792	HP:0001337	Tremor
OMIM:312750	CDKL5	6792	HP:0002066	Gait ataxia
OMIM:312750	CDKL5	6792	HP:0002020	Gastroesophageal reflux
OMIM:312750	CDKL5	6792	HP:0004322	Short stature
OMIM:312750	CDKL5	6792	HP:0000252	Microcephaly
OMIM:312750	CDKL5	6792	HP:0002270	Abnormality of the autonomic nervous system
OMIM:312750	CDKL5	6792	HP:0002808	Kyphosis
OMIM:312750	CDKL5	6792	HP:0002120	Cerebral cortical atrophy
OMIM:312750	CDKL5	6792	HP:0002240	Hepatomegaly
OMIM:312750	CDKL5	6792	HP:0002078	Truncal ataxia
OMIM:312750	CDKL5	6792	HP:0001332	Dystonia
OMIM:312750	CDKL5	6792	HP:0002376	Developmental regression
OMIM:312750	CDKL5	6792	HP:0011675	Arrhythmia
OMIM:312750	CDKL5	6792	HP:0003202	Skeletal muscle atrophy
OMIM:312750	CDKL5	6792	HP:0002650	Scoliosis
OMIM:312750	CDKL5	6792	HP:0002311	Incoordination
OMIM:312750	CDKL5	6792	HP:0001324	Muscle weakness
OMIM:312750	CDKL5	6792	HP:0000164	Abnormality of the teeth
OMIM:312750	CDKL5	6792	HP:0002167	Neurological speech impairment
OMIM:312750	CDKL5	6792	HP:0001773	Short foot
OMIM:312750	CDKL5	6792	HP:0002104	Apnea
OMIM:312750	CDKL5	6792	HP:0000717	Autism
OMIM:312750	CDKL5	6792	HP:0000478	Abnormality of the eye
OMIM:312750	CDKL5	6792	HP:0001423	X-linked dominant inheritance
OMIM:312750	CDKL5	6792	HP:0000733	Stereotypic behavior
OMIM:312750	CDKL5	6792	HP:0001276	Hypertonia
OMIM:312750	CDKL5	6792	HP:0100716	Self-injurious behavior
OMIM:312750	CDKL5	6792	HP:0001250	Seizures
OMIM:312750	CDKL5	6792	HP:0004374	Hemiplegia/hemiparesis
OMIM:312750	CDKL5	6792	HP:0002019	Constipation
OMIM:312750	CDKL5	6792	HP:0005135	EKG: T-wave abnormalities
OMIM:312750	CDKL5	6792	HP:0005484	Postnatal microcephaly
OMIM:312750	CDKL5	6792	HP:0005184	Prolonged QTc interval
OMIM:312750	CDKL5	6792	HP:0002353	EEG abnormality
OMIM:312750	CDKL5	6792	HP:0002093	Respiratory insufficiency
OMIM:312750	CDKL5	6792	HP:0000729	Autistic behavior
OMIM:312750	CDKL5	6792	HP:0001376	Limitation of joint mobility
OMIM:312750	CDKL5	6792	HP:0002187	Intellectual disability, profound
OMIM:312750	CDKL5	6792	HP:0004349	Reduced bone mineral density
OMIM:312750	CDKL5	6792	HP:0001608	Abnormality of the voice
OMIM:312750	CDKL5	6792	HP:0001257	Spasticity
OMIM:312750	CDKL5	6792	HP:0002360	Sleep disturbance
OMIM:312750	MECP2	4204	HP:0001288	Gait disturbance
OMIM:312750	MECP2	4204	HP:0001337	Tremor
OMIM:312750	MECP2	4204	HP:0002066	Gait ataxia
OMIM:312750	MECP2	4204	HP:0002020	Gastroesophageal reflux
OMIM:312750	MECP2	4204	HP:0004322	Short stature
OMIM:312750	MECP2	4204	HP:0000252	Microcephaly
OMIM:312750	MECP2	4204	HP:0002270	Abnormality of the autonomic nervous system
OMIM:312750	MECP2	4204	HP:0002808	Kyphosis
OMIM:312750	MECP2	4204	HP:0002120	Cerebral cortical atrophy
OMIM:312750	MECP2	4204	HP:0002240	Hepatomegaly
OMIM:312750	MECP2	4204	HP:0002078	Truncal ataxia
OMIM:312750	MECP2	4204	HP:0001332	Dystonia
OMIM:312750	MECP2	4204	HP:0002376	Developmental regression
OMIM:312750	MECP2	4204	HP:0011675	Arrhythmia
OMIM:312750	MECP2	4204	HP:0003202	Skeletal muscle atrophy
OMIM:312750	MECP2	4204	HP:0002650	Scoliosis
OMIM:312750	MECP2	4204	HP:0002311	Incoordination
OMIM:312750	MECP2	4204	HP:0001324	Muscle weakness
OMIM:312750	MECP2	4204	HP:0000164	Abnormality of the teeth
OMIM:312750	MECP2	4204	HP:0002167	Neurological speech impairment
OMIM:312750	MECP2	4204	HP:0001773	Short foot
OMIM:312750	MECP2	4204	HP:0002104	Apnea
OMIM:312750	MECP2	4204	HP:0000717	Autism
OMIM:312750	MECP2	4204	HP:0000478	Abnormality of the eye
OMIM:312750	MECP2	4204	HP:0001423	X-linked dominant inheritance
OMIM:312750	MECP2	4204	HP:0000733	Stereotypic behavior
OMIM:312750	MECP2	4204	HP:0001276	Hypertonia
OMIM:312750	MECP2	4204	HP:0100716	Self-injurious behavior
OMIM:312750	MECP2	4204	HP:0001250	Seizures
OMIM:312750	MECP2	4204	HP:0004374	Hemiplegia/hemiparesis
OMIM:312750	MECP2	4204	HP:0002019	Constipation
OMIM:312750	MECP2	4204	HP:0005135	EKG: T-wave abnormalities
OMIM:312750	MECP2	4204	HP:0005484	Postnatal microcephaly
OMIM:312750	MECP2	4204	HP:0005184	Prolonged QTc interval
OMIM:312750	MECP2	4204	HP:0002353	EEG abnormality
OMIM:312750	MECP2	4204	HP:0002093	Respiratory insufficiency
OMIM:312750	MECP2	4204	HP:0000729	Autistic behavior
OMIM:312750	MECP2	4204	HP:0001376	Limitation of joint mobility
OMIM:312750	MECP2	4204	HP:0002187	Intellectual disability, profound
OMIM:312750	MECP2	4204	HP:0004349	Reduced bone mineral density
OMIM:312750	MECP2	4204	HP:0001608	Abnormality of the voice
OMIM:312750	MECP2	4204	HP:0001257	Spasticity
OMIM:312750	MECP2	4204	HP:0002360	Sleep disturbance
OMIM:613811	TSEN54	283989	HP:0000253	Progressive microcephaly
OMIM:613811	TSEN54	283989	HP:0001250	Seizures
OMIM:613811	TSEN54	283989	HP:0002187	Intellectual disability, profound
OMIM:613811	TSEN54	283989	HP:0000737	Irritability
OMIM:613811	TSEN54	283989	HP:0002059	Cerebral atrophy
OMIM:613811	TSEN54	283989	HP:0003593	Infantile onset
OMIM:613811	TSEN54	283989	HP:0002518	Abnormality of the periventricular white matter
OMIM:613811	TSEN54	283989	HP:0002169	Clonus
OMIM:613811	TSEN54	283989	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613811	TSEN54	283989	HP:0001263	Global developmental delay
OMIM:613811	TSEN54	283989	HP:0002360	Sleep disturbance
OMIM:613811	TSEN54	283989	HP:0003121	Limb joint contracture
OMIM:613811	TSEN54	283989	HP:0001272	Cerebellar atrophy
OMIM:613811	TSEN54	283989	HP:0002510	Spastic tetraplegia
OMIM:613811	TSEN54	283989	HP:0012448	Delayed myelination
OMIM:613811	TSEN54	283989	HP:0000007	Autosomal recessive inheritance
OMIM:613811	SEPSECS	51091	HP:0000253	Progressive microcephaly
OMIM:613811	SEPSECS	51091	HP:0001250	Seizures
OMIM:613811	SEPSECS	51091	HP:0002187	Intellectual disability, profound
OMIM:613811	SEPSECS	51091	HP:0000737	Irritability
OMIM:613811	SEPSECS	51091	HP:0002059	Cerebral atrophy
OMIM:613811	SEPSECS	51091	HP:0003593	Infantile onset
OMIM:613811	SEPSECS	51091	HP:0002518	Abnormality of the periventricular white matter
OMIM:613811	SEPSECS	51091	HP:0002169	Clonus
OMIM:613811	SEPSECS	51091	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613811	SEPSECS	51091	HP:0001263	Global developmental delay
OMIM:613811	SEPSECS	51091	HP:0002360	Sleep disturbance
OMIM:613811	SEPSECS	51091	HP:0003121	Limb joint contracture
OMIM:613811	SEPSECS	51091	HP:0001272	Cerebellar atrophy
OMIM:613811	SEPSECS	51091	HP:0002510	Spastic tetraplegia
OMIM:613811	SEPSECS	51091	HP:0012448	Delayed myelination
OMIM:613811	SEPSECS	51091	HP:0000007	Autosomal recessive inheritance
OMIM:613811	TSEN34	79042	HP:0000253	Progressive microcephaly
OMIM:613811	TSEN34	79042	HP:0001250	Seizures
OMIM:613811	TSEN34	79042	HP:0002187	Intellectual disability, profound
OMIM:613811	TSEN34	79042	HP:0000737	Irritability
OMIM:613811	TSEN34	79042	HP:0002059	Cerebral atrophy
OMIM:613811	TSEN34	79042	HP:0003593	Infantile onset
OMIM:613811	TSEN34	79042	HP:0002518	Abnormality of the periventricular white matter
OMIM:613811	TSEN34	79042	HP:0002169	Clonus
OMIM:613811	TSEN34	79042	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613811	TSEN34	79042	HP:0001263	Global developmental delay
OMIM:613811	TSEN34	79042	HP:0002360	Sleep disturbance
OMIM:613811	TSEN34	79042	HP:0003121	Limb joint contracture
OMIM:613811	TSEN34	79042	HP:0001272	Cerebellar atrophy
OMIM:613811	TSEN34	79042	HP:0002510	Spastic tetraplegia
OMIM:613811	TSEN34	79042	HP:0012448	Delayed myelination
OMIM:613811	TSEN34	79042	HP:0000007	Autosomal recessive inheritance
OMIM:613811	TSEN2	80746	HP:0000253	Progressive microcephaly
OMIM:613811	TSEN2	80746	HP:0001250	Seizures
OMIM:613811	TSEN2	80746	HP:0002187	Intellectual disability, profound
OMIM:613811	TSEN2	80746	HP:0000737	Irritability
OMIM:613811	TSEN2	80746	HP:0002059	Cerebral atrophy
OMIM:613811	TSEN2	80746	HP:0003593	Infantile onset
OMIM:613811	TSEN2	80746	HP:0002518	Abnormality of the periventricular white matter
OMIM:613811	TSEN2	80746	HP:0002169	Clonus
OMIM:613811	TSEN2	80746	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613811	TSEN2	80746	HP:0001263	Global developmental delay
OMIM:613811	TSEN2	80746	HP:0002360	Sleep disturbance
OMIM:613811	TSEN2	80746	HP:0003121	Limb joint contracture
OMIM:613811	TSEN2	80746	HP:0001272	Cerebellar atrophy
OMIM:613811	TSEN2	80746	HP:0002510	Spastic tetraplegia
OMIM:613811	TSEN2	80746	HP:0012448	Delayed myelination
OMIM:613811	TSEN2	80746	HP:0000007	Autosomal recessive inheritance
OMIM:311040	ELK1	2002	HP:0001417	X-linked inheritance
OMIM:311040	ELK1	2002	HP:0002664	Neoplasm
OMIM:614307	AMACR	23600	HP:0001337	Tremor
OMIM:614307	AMACR	23600	HP:0000580	Pigmentary retinopathy
OMIM:614307	AMACR	23600	HP:0001251	Ataxia
OMIM:614307	AMACR	23600	HP:0000007	Autosomal recessive inheritance
OMIM:614307	AMACR	23600	HP:0001257	Spasticity
OMIM:614307	AMACR	23600	HP:0003812	Phenotypic variability
OMIM:614307	AMACR	23600	HP:0000505	Visual impairment
OMIM:614307	AMACR	23600	HP:0007141	Sensorimotor neuropathy
OMIM:614307	AMACR	23600	HP:0002133	Status epilepticus
OMIM:614307	AMACR	23600	HP:0002076	Migraine
OMIM:309000	OCRL	4952	HP:0007663	Reduced visual acuity
OMIM:309000	OCRL	4952	HP:0004322	Short stature
OMIM:309000	OCRL	4952	HP:0000682	Abnormality of dental enamel
OMIM:309000	OCRL	4952	HP:0001369	Arthritis
OMIM:309000	OCRL	4952	HP:0008069	Neoplasm of the skin
OMIM:309000	OCRL	4952	HP:0000501	Glaucoma
OMIM:309000	OCRL	4952	HP:0000670	Carious teeth
OMIM:309000	OCRL	4952	HP:0009804	Reduced number of teeth
OMIM:309000	OCRL	4952	HP:0002857	Genu valgum
OMIM:309000	OCRL	4952	HP:0000679	Taurodontia
OMIM:309000	OCRL	4952	HP:0000987	Atypical scarring of skin
OMIM:309000	OCRL	4952	HP:0008063	Aplasia/Hypoplasia of the lens
OMIM:309000	OCRL	4952	HP:0000926	Platyspondyly
OMIM:309000	OCRL	4952	HP:0002650	Scoliosis
OMIM:309000	OCRL	4952	HP:0000093	Proteinuria
OMIM:309000	OCRL	4952	HP:0002119	Ventriculomegaly
OMIM:309000	OCRL	4952	HP:0200042	Skin ulcer
OMIM:309000	OCRL	4952	HP:0002167	Neurological speech impairment
OMIM:309000	OCRL	4952	HP:0000718	Aggressive behavior
OMIM:309000	OCRL	4952	HP:0004349	Reduced bone mineral density
OMIM:309000	OCRL	4952	HP:0001376	Limitation of joint mobility
OMIM:309000	OCRL	4952	HP:0001944	Dehydration
OMIM:309000	OCRL	4952	HP:0002148	Hypophosphatemia
OMIM:309000	OCRL	4952	HP:0007759	Opacification of the corneal stroma
OMIM:309000	OCRL	4952	HP:0000772	Abnormality of the ribs
OMIM:309000	OCRL	4952	HP:0001608	Abnormality of the voice
OMIM:309000	OCRL	4952	HP:0000343	Long philtrum
OMIM:309000	OCRL	4952	HP:0002024	Malabsorption
OMIM:309000	OCRL	4952	HP:0001537	Umbilical hernia
OMIM:309000	OCRL	4952	HP:0000873	Diabetes insipidus
OMIM:309000	OCRL	4952	HP:0001873	Thrombocytopenia
OMIM:309000	OCRL	4952	HP:0002007	Frontal bossing
OMIM:309000	OCRL	4952	HP:0000632	Lacrimation abnormality
OMIM:309000	OCRL	4952	HP:0000194	Open mouth
OMIM:309000	OCRL	4952	HP:0000639	Nystagmus
OMIM:309000	OCRL	4952	HP:0000230	Gingivitis
OMIM:309000	OCRL	4952	HP:0000505	Visual impairment
OMIM:309000	OCRL	4952	HP:0008872	Feeding difficulties in infancy
OMIM:309000	OCRL	4952	HP:0000368	Low-set, posteriorly rotated ears
OMIM:309000	OCRL	4952	HP:0002019	Constipation
OMIM:309000	OCRL	4952	HP:0003119	Abnormality of lipid metabolism
OMIM:309000	OCRL	4952	HP:0002808	Kyphosis
OMIM:309000	OCRL	4952	HP:0000787	Nephrolithiasis
OMIM:309000	OCRL	4952	HP:0001249	Intellectual disability
OMIM:309000	OCRL	4952	HP:0000028	Cryptorchidism
OMIM:309000	OCRL	4952	HP:0000684	Delayed eruption of teeth
OMIM:309000	OCRL	4952	HP:0002093	Respiratory insufficiency
OMIM:309000	OCRL	4952	HP:0011362	Abnormal hair quantity
OMIM:309000	OCRL	4952	HP:0000582	Upslanted palpebral fissure
OMIM:309000	OCRL	4952	HP:0003355	Aminoaciduria
OMIM:309000	OCRL	4952	HP:0000733	Stereotypic behavior
OMIM:309000	OCRL	4952	HP:0000944	Abnormality of the metaphyses
OMIM:309000	OCRL	4952	HP:0005930	Abnormality of epiphysis morphology
OMIM:309000	OCRL	4952	HP:0000843	Hyperparathyroidism
OMIM:309000	OCRL	4952	HP:0000557	Buphthalmos
OMIM:309000	OCRL	4952	HP:0000689	Dental malocclusion
OMIM:309000	OCRL	4952	HP:0000113	Polycystic kidney dysplasia
OMIM:309000	OCRL	4952	HP:0002205	Recurrent respiratory infections
OMIM:309000	OCRL	4952	HP:0010299	Abnormality of dentin
OMIM:309000	OCRL	4952	HP:0002757	Recurrent fractures
OMIM:309000	OCRL	4952	HP:0000083	Renal insufficiency
OMIM:309000	OCRL	4952	HP:0100490	Camptodactyly of finger
OMIM:309000	OCRL	4952	HP:0001252	Muscular hypotonia
OMIM:309000	OCRL	4952	HP:0000486	Strabismus
OMIM:309000	OCRL	4952	HP:0001319	Neonatal hypotonia
OMIM:309000	OCRL	4952	HP:0002213	Fine hair
OMIM:309000	OCRL	4952	HP:0001508	Failure to thrive
OMIM:309000	OCRL	4952	HP:0002353	EEG abnormality
OMIM:309000	OCRL	4952	HP:0000232	Everted lower lip vermilion
OMIM:309000	OCRL	4952	HP:0100589	Urogenital fistula
OMIM:309000	OCRL	4952	HP:0000121	Nephrocalcinosis
OMIM:309000	OCRL	4952	HP:0000303	Mandibular prognathia
OMIM:309000	OCRL	4952	HP:0000722	Obsessive-compulsive behavior
OMIM:309000	OCRL	4952	HP:0100716	Self-injurious behavior
OMIM:309000	OCRL	4952	HP:0000615	Abnormality of the pupil
OMIM:309000	OCRL	4952	HP:0006297	Hypoplasia of dental enamel
OMIM:309000	OCRL	4952	HP:0000377	Abnormality of the pinna
OMIM:309000	OCRL	4952	HP:0100835	Benign neoplasm of the central nervous system
OMIM:309000	OCRL	4952	HP:0000347	Micrognathia
OMIM:309000	OCRL	4952	HP:0000790	Hematuria
OMIM:309000	OCRL	4952	HP:0000388	Otitis media
OMIM:309000	OCRL	4952	HP:0002827	Hip dislocation
OMIM:309000	OCRL	4952	HP:0000532	Chorioretinal abnormality
OMIM:309000	OCRL	4952	HP:0000233	Thin vermilion border
OMIM:309000	OCRL	4952	HP:0000490	Deeply set eye
OMIM:309000	OCRL	4952	HP:0007513	Generalized hypopigmentation
OMIM:309000	OCRL	4952	HP:0001284	Areflexia
OMIM:309000	OCRL	4952	HP:0003272	Abnormality of the hip bone
OMIM:309000	OCRL	4952	HP:0000276	Long face
OMIM:309000	OCRL	4952	HP:0001419	X-linked recessive inheritance
OMIM:309000	OCRL	4952	HP:0001382	Joint hypermobility
OMIM:309000	OCRL	4952	HP:0001250	Seizures
OMIM:309000	OCRL	4952	HP:0100530	Abnormality of calcium-phosphate metabolism
OMIM:309000	OCRL	4952	HP:0001315	Reduced tendon reflexes
OMIM:309000	OCRL	4952	HP:0003124	Hypercholesterolemia
OMIM:309000	OCRL	4952	HP:0000704	Periodontitis
OMIM:309000	OCRL	4952	HP:0000174	Abnormality of the palate
OMIM:309000	OCRL	4952	HP:0000091	Abnormality of the renal tubule
OMIM:309000	OCRL	4952	HP:0000025	Functional abnormality of male internal genitalia
OMIM:309000	OCRL	4952	HP:0000518	Cataract
OMIM:309000	OCRL	4952	HP:0100543	Cognitive impairment
OMIM:309000	OCRL	4952	HP:0001482	Subcutaneous nodule
OMIM:309000	OCRL	4952	HP:0004305	Involuntary movements
OMIM:309000	OCRL	4952	HP:0007018	Attention deficit hyperactivity disorder
OMIM:309000	OCRL	4952	HP:0100750	Atelectasis
OMIM:309000	OCRL	4952	HP:0000519	Congenital cataract
OMIM:309000	OCRL	4952	HP:0002756	Pathologic fracture
OMIM:309000	OCRL	4952	HP:0000293	Full cheeks
OMIM:309000	OCRL	4952	HP:0002999	Patellar dislocation
OMIM:309000	OCRL	4952	HP:0001903	Anemia
OMIM:309000	OCRL	4952	HP:0002150	Hypercalciuria
OMIM:309000	OCRL	4952	HP:0000568	Microphthalmia
ORPHANET:703	HLA-DRB1	3123	HP:0000964	Eczema
ORPHANET:703	HLA-DRB1	3123	HP:0001025	Urticaria
ORPHANET:703	HLA-DRB1	3123	HP:0002960	Autoimmunity
ORPHANET:703	HLA-DRB1	3123	HP:0001034	Hypermelanotic macule
ORPHANET:703	HLA-DRB1	3123	HP:0000163	Abnormality of the oral cavity
ORPHANET:703	HLA-DRB1	3123	HP:0000819	Diabetes mellitus
ORPHANET:703	HLA-DRB1	3123	HP:0001824	Weight loss
ORPHANET:703	HLA-DQB1	3119	HP:0000964	Eczema
ORPHANET:703	HLA-DQB1	3119	HP:0001025	Urticaria
ORPHANET:703	HLA-DQB1	3119	HP:0002960	Autoimmunity
ORPHANET:703	HLA-DQB1	3119	HP:0001034	Hypermelanotic macule
ORPHANET:703	HLA-DQB1	3119	HP:0000163	Abnormality of the oral cavity
ORPHANET:703	HLA-DQB1	3119	HP:0000819	Diabetes mellitus
ORPHANET:703	HLA-DQB1	3119	HP:0001824	Weight loss
OMIM:246700	SAR1B	51128	HP:0001315	Reduced tendon reflexes
OMIM:246700	SAR1B	51128	HP:0002013	Vomiting
OMIM:246700	SAR1B	51128	HP:0001510	Growth delay
OMIM:246700	SAR1B	51128	HP:0003146	Hypocholesterolemia
OMIM:246700	SAR1B	51128	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:246700	SAR1B	51128	HP:0002495	Impaired vibratory sensation
OMIM:246700	SAR1B	51128	HP:0001508	Failure to thrive
OMIM:246700	SAR1B	51128	HP:0002570	Steatorrhea
OMIM:246700	SAR1B	51128	HP:0001249	Intellectual disability
OMIM:246700	SAR1B	51128	HP:0002014	Diarrhea
OMIM:246700	SAR1B	51128	HP:0003563	Hypobetalipoproteinemia
OMIM:246700	SAR1B	51128	HP:0004395	Malnutrition
OMIM:246700	SAR1B	51128	HP:0003073	Hypoalbuminemia
OMIM:246700	SAR1B	51128	HP:0000007	Autosomal recessive inheritance
OMIM:246700	SAR1B	51128	HP:0003593	Infantile onset
OMIM:246700	SAR1B	51128	HP:0000478	Abnormality of the eye
OMIM:603622	DIAPH1	1729	HP:0005101	High-frequency hearing impairment
OMIM:603622	DIAPH1	1729	HP:0003621	Juvenile onset
OMIM:603622	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:603622	CEACAM16	388551	HP:0005101	High-frequency hearing impairment
OMIM:603622	CEACAM16	388551	HP:0003621	Juvenile onset
OMIM:603622	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:603622	SLC17A8	246213	HP:0005101	High-frequency hearing impairment
OMIM:603622	SLC17A8	246213	HP:0003621	Juvenile onset
OMIM:603622	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:603622	TJP2	9414	HP:0005101	High-frequency hearing impairment
OMIM:603622	TJP2	9414	HP:0003621	Juvenile onset
OMIM:603622	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:603622	ACTG1	71	HP:0005101	High-frequency hearing impairment
OMIM:603622	ACTG1	71	HP:0003621	Juvenile onset
OMIM:603622	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:603622	CCDC50	152137	HP:0005101	High-frequency hearing impairment
OMIM:603622	CCDC50	152137	HP:0003621	Juvenile onset
OMIM:603622	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:603622	MIR96	407053	HP:0005101	High-frequency hearing impairment
OMIM:603622	MIR96	407053	HP:0003621	Juvenile onset
OMIM:603622	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:603622	GJB2	2706	HP:0005101	High-frequency hearing impairment
OMIM:603622	GJB2	2706	HP:0003621	Juvenile onset
OMIM:603622	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:603622	MYH9	4627	HP:0005101	High-frequency hearing impairment
OMIM:603622	MYH9	4627	HP:0003621	Juvenile onset
OMIM:603622	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:603622	POU4F3	5459	HP:0005101	High-frequency hearing impairment
OMIM:603622	POU4F3	5459	HP:0003621	Juvenile onset
OMIM:603622	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:603622	GJB3	2707	HP:0005101	High-frequency hearing impairment
OMIM:603622	GJB3	2707	HP:0003621	Juvenile onset
OMIM:603622	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:603622	CRYM	1428	HP:0005101	High-frequency hearing impairment
OMIM:603622	CRYM	1428	HP:0003621	Juvenile onset
OMIM:603622	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:603622	COL11A2	1302	HP:0005101	High-frequency hearing impairment
OMIM:603622	COL11A2	1302	HP:0003621	Juvenile onset
OMIM:603622	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:603622	EYA4	2070	HP:0005101	High-frequency hearing impairment
OMIM:603622	EYA4	2070	HP:0003621	Juvenile onset
OMIM:603622	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:603622	DFNA5	1687	HP:0005101	High-frequency hearing impairment
OMIM:603622	DFNA5	1687	HP:0003621	Juvenile onset
OMIM:603622	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:603622	DIAPH3	81624	HP:0005101	High-frequency hearing impairment
OMIM:603622	DIAPH3	81624	HP:0003621	Juvenile onset
OMIM:603622	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:603622	TMC1	117531	HP:0005101	High-frequency hearing impairment
OMIM:603622	TMC1	117531	HP:0003621	Juvenile onset
OMIM:603622	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:603622	COCH	1690	HP:0005101	High-frequency hearing impairment
OMIM:603622	COCH	1690	HP:0003621	Juvenile onset
OMIM:603622	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:603622	OSBPL2	9885	HP:0005101	High-frequency hearing impairment
OMIM:603622	OSBPL2	9885	HP:0003621	Juvenile onset
OMIM:603622	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:603622	SIX1	6495	HP:0005101	High-frequency hearing impairment
OMIM:603622	SIX1	6495	HP:0003621	Juvenile onset
OMIM:603622	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:603622	TECTA	7007	HP:0005101	High-frequency hearing impairment
OMIM:603622	TECTA	7007	HP:0003621	Juvenile onset
OMIM:603622	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:603622	MYO1A	4640	HP:0005101	High-frequency hearing impairment
OMIM:603622	MYO1A	4640	HP:0003621	Juvenile onset
OMIM:603622	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:603622	MYO1C	4641	HP:0005101	High-frequency hearing impairment
OMIM:603622	MYO1C	4641	HP:0003621	Juvenile onset
OMIM:603622	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:603622	MYO6	4646	HP:0005101	High-frequency hearing impairment
OMIM:603622	MYO6	4646	HP:0003621	Juvenile onset
OMIM:603622	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:603622	MYO7A	4647	HP:0005101	High-frequency hearing impairment
OMIM:603622	MYO7A	4647	HP:0003621	Juvenile onset
OMIM:603622	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:603622	GRHL2	79977	HP:0005101	High-frequency hearing impairment
OMIM:603622	GRHL2	79977	HP:0003621	Juvenile onset
OMIM:603622	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:603622	DIABLO	56616	HP:0005101	High-frequency hearing impairment
OMIM:603622	DIABLO	56616	HP:0003621	Juvenile onset
OMIM:603622	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:603622	MYH14	79784	HP:0005101	High-frequency hearing impairment
OMIM:603622	MYH14	79784	HP:0003621	Juvenile onset
OMIM:603622	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:603622	P2RX2	22953	HP:0005101	High-frequency hearing impairment
OMIM:603622	P2RX2	22953	HP:0003621	Juvenile onset
OMIM:603622	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:603622	WFS1	7466	HP:0005101	High-frequency hearing impairment
OMIM:603622	WFS1	7466	HP:0003621	Juvenile onset
OMIM:603622	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:603622	TNC	3371	HP:0005101	High-frequency hearing impairment
OMIM:603622	TNC	3371	HP:0003621	Juvenile onset
OMIM:603622	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:603622	KCNQ4	9132	HP:0005101	High-frequency hearing impairment
OMIM:603622	KCNQ4	9132	HP:0003621	Juvenile onset
OMIM:603622	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:603622	HOMER2	9455	HP:0005101	High-frequency hearing impairment
OMIM:603622	HOMER2	9455	HP:0003621	Juvenile onset
OMIM:603622	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:603622	GJB6	10804	HP:0005101	High-frequency hearing impairment
OMIM:603622	GJB6	10804	HP:0003621	Juvenile onset
OMIM:603622	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:603622	TBC1D24	57465	HP:0005101	High-frequency hearing impairment
OMIM:603622	TBC1D24	57465	HP:0003621	Juvenile onset
OMIM:603622	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:616258	KIF14	9928	HP:0001274	Agenesis of corpus callosum
OMIM:616258	KIF14	9928	HP:0001838	Rocker bottom foot
OMIM:616258	KIF14	9928	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616258	KIF14	9928	HP:0000252	Microcephaly
OMIM:616258	KIF14	9928	HP:0000104	Renal agenesis
OMIM:616258	KIF14	9928	HP:0006872	Cerebral hypoplasia
OMIM:616258	KIF14	9928	HP:0000340	Sloping forehead
OMIM:616258	KIF14	9928	HP:0001321	Cerebellar hypoplasia
OMIM:616258	KIF14	9928	HP:0000463	Anteverted nares
OMIM:616258	KIF14	9928	HP:0000089	Renal hypoplasia
OMIM:616258	KIF14	9928	HP:0000347	Micrognathia
OMIM:616258	KIF14	9928	HP:0001562	Oligohydramnios
OMIM:616258	KIF14	9928	HP:0000148	Vaginal atresia
OMIM:616258	KIF14	9928	HP:0000193	Bifid uvula
OMIM:616258	KIF14	9928	HP:0000369	Low-set ears
OMIM:616258	KIF14	9928	HP:0001511	Intrauterine growth retardation
OMIM:616258	KIF14	9928	HP:0000431	Wide nasal bridge
OMIM:616111	UQCRQ	27089	HP:0003128	Lactic acidosis
OMIM:616111	UQCRQ	27089	HP:0001263	Global developmental delay
OMIM:616111	UQCRQ	27089	HP:0011968	Feeding difficulties
OMIM:616111	UQCRQ	27089	HP:0001510	Growth delay
OMIM:616111	UQCRQ	27089	HP:0002151	Increased serum lactate
OMIM:616111	UQCRQ	27089	HP:0001252	Muscular hypotonia
OMIM:616111	UQCRQ	27089	HP:0001943	Hypoglycemia
OMIM:616111	CYC1	1537	HP:0003128	Lactic acidosis
OMIM:616111	CYC1	1537	HP:0001263	Global developmental delay
OMIM:616111	CYC1	1537	HP:0011968	Feeding difficulties
OMIM:616111	CYC1	1537	HP:0001510	Growth delay
OMIM:616111	CYC1	1537	HP:0002151	Increased serum lactate
OMIM:616111	CYC1	1537	HP:0001252	Muscular hypotonia
OMIM:616111	CYC1	1537	HP:0001943	Hypoglycemia
OMIM:616111	LYRM7	90624	HP:0003128	Lactic acidosis
OMIM:616111	LYRM7	90624	HP:0001263	Global developmental delay
OMIM:616111	LYRM7	90624	HP:0011968	Feeding difficulties
OMIM:616111	LYRM7	90624	HP:0001510	Growth delay
OMIM:616111	LYRM7	90624	HP:0002151	Increased serum lactate
OMIM:616111	LYRM7	90624	HP:0001252	Muscular hypotonia
OMIM:616111	LYRM7	90624	HP:0001943	Hypoglycemia
OMIM:616111	UQCRB	7381	HP:0003128	Lactic acidosis
OMIM:616111	UQCRB	7381	HP:0001263	Global developmental delay
OMIM:616111	UQCRB	7381	HP:0011968	Feeding difficulties
OMIM:616111	UQCRB	7381	HP:0001510	Growth delay
OMIM:616111	UQCRB	7381	HP:0002151	Increased serum lactate
OMIM:616111	UQCRB	7381	HP:0001252	Muscular hypotonia
OMIM:616111	UQCRB	7381	HP:0001943	Hypoglycemia
OMIM:616111	TTC19	54902	HP:0003128	Lactic acidosis
OMIM:616111	TTC19	54902	HP:0001263	Global developmental delay
OMIM:616111	TTC19	54902	HP:0011968	Feeding difficulties
OMIM:616111	TTC19	54902	HP:0001510	Growth delay
OMIM:616111	TTC19	54902	HP:0002151	Increased serum lactate
OMIM:616111	TTC19	54902	HP:0001252	Muscular hypotonia
OMIM:616111	TTC19	54902	HP:0001943	Hypoglycemia
OMIM:616111	UQCC3	790955	HP:0003128	Lactic acidosis
OMIM:616111	UQCC3	790955	HP:0001263	Global developmental delay
OMIM:616111	UQCC3	790955	HP:0011968	Feeding difficulties
OMIM:616111	UQCC3	790955	HP:0001510	Growth delay
OMIM:616111	UQCC3	790955	HP:0002151	Increased serum lactate
OMIM:616111	UQCC3	790955	HP:0001252	Muscular hypotonia
OMIM:616111	UQCC3	790955	HP:0001943	Hypoglycemia
OMIM:616111	CYTB	4519	HP:0003128	Lactic acidosis
OMIM:616111	CYTB	4519	HP:0001263	Global developmental delay
OMIM:616111	CYTB	4519	HP:0011968	Feeding difficulties
OMIM:616111	CYTB	4519	HP:0001510	Growth delay
OMIM:616111	CYTB	4519	HP:0002151	Increased serum lactate
OMIM:616111	CYTB	4519	HP:0001252	Muscular hypotonia
OMIM:616111	CYTB	4519	HP:0001943	Hypoglycemia
OMIM:616111	BCS1L	617	HP:0003128	Lactic acidosis
OMIM:616111	BCS1L	617	HP:0001263	Global developmental delay
OMIM:616111	BCS1L	617	HP:0011968	Feeding difficulties
OMIM:616111	BCS1L	617	HP:0001510	Growth delay
OMIM:616111	BCS1L	617	HP:0002151	Increased serum lactate
OMIM:616111	BCS1L	617	HP:0001252	Muscular hypotonia
OMIM:616111	BCS1L	617	HP:0001943	Hypoglycemia
OMIM:616111	UQCRC2	7385	HP:0003128	Lactic acidosis
OMIM:616111	UQCRC2	7385	HP:0001263	Global developmental delay
OMIM:616111	UQCRC2	7385	HP:0011968	Feeding difficulties
OMIM:616111	UQCRC2	7385	HP:0001510	Growth delay
OMIM:616111	UQCRC2	7385	HP:0002151	Increased serum lactate
OMIM:616111	UQCRC2	7385	HP:0001252	Muscular hypotonia
OMIM:616111	UQCRC2	7385	HP:0001943	Hypoglycemia
OMIM:616111	UQCC2	84300	HP:0003128	Lactic acidosis
OMIM:616111	UQCC2	84300	HP:0001263	Global developmental delay
OMIM:616111	UQCC2	84300	HP:0011968	Feeding difficulties
OMIM:616111	UQCC2	84300	HP:0001510	Growth delay
OMIM:616111	UQCC2	84300	HP:0002151	Increased serum lactate
OMIM:616111	UQCC2	84300	HP:0001252	Muscular hypotonia
OMIM:616111	UQCC2	84300	HP:0001943	Hypoglycemia
OMIM:603513	KANK1	23189	HP:0001347	Hyperreflexia
OMIM:603513	KANK1	23189	HP:0000007	Autosomal recessive inheritance
OMIM:603513	KANK1	23189	HP:0002510	Spastic tetraplegia
OMIM:603513	KANK1	23189	HP:0000252	Microcephaly
OMIM:603513	KANK1	23189	HP:0001371	Flexion contracture
OMIM:603513	KANK1	23189	HP:0003593	Infantile onset
OMIM:603513	KANK1	23189	HP:0001249	Intellectual disability
OMIM:603513	KANK1	23189	HP:0001263	Global developmental delay
OMIM:603513	KANK1	23189	HP:0001250	Seizures
OMIM:603513	KANK1	23189	HP:0002650	Scoliosis
OMIM:603513	KANK1	23189	HP:0003487	Babinski sign
OMIM:603513	KANK1	23189	HP:0001425	Heterogeneous
OMIM:603513	ADD3	120	HP:0001347	Hyperreflexia
OMIM:603513	ADD3	120	HP:0000007	Autosomal recessive inheritance
OMIM:603513	ADD3	120	HP:0002510	Spastic tetraplegia
OMIM:603513	ADD3	120	HP:0000252	Microcephaly
OMIM:603513	ADD3	120	HP:0001371	Flexion contracture
OMIM:603513	ADD3	120	HP:0003593	Infantile onset
OMIM:603513	ADD3	120	HP:0001249	Intellectual disability
OMIM:603513	ADD3	120	HP:0001263	Global developmental delay
OMIM:603513	ADD3	120	HP:0001250	Seizures
OMIM:603513	ADD3	120	HP:0002650	Scoliosis
OMIM:603513	ADD3	120	HP:0003487	Babinski sign
OMIM:603513	ADD3	120	HP:0001425	Heterogeneous
OMIM:603513	GAD1	2571	HP:0001347	Hyperreflexia
OMIM:603513	GAD1	2571	HP:0000007	Autosomal recessive inheritance
OMIM:603513	GAD1	2571	HP:0002510	Spastic tetraplegia
OMIM:603513	GAD1	2571	HP:0000252	Microcephaly
OMIM:603513	GAD1	2571	HP:0001371	Flexion contracture
OMIM:603513	GAD1	2571	HP:0003593	Infantile onset
OMIM:603513	GAD1	2571	HP:0001249	Intellectual disability
OMIM:603513	GAD1	2571	HP:0001263	Global developmental delay
OMIM:603513	GAD1	2571	HP:0001250	Seizures
OMIM:603513	GAD1	2571	HP:0002650	Scoliosis
OMIM:603513	GAD1	2571	HP:0003487	Babinski sign
OMIM:603513	GAD1	2571	HP:0001425	Heterogeneous
OMIM:616002	PAX2	5076	HP:0000089	Renal hypoplasia
OMIM:616002	PAX2	5076	HP:0000100	Nephrotic syndrome
OMIM:616002	PAX2	5076	HP:0003774	Stage 5 chronic kidney disease
OMIM:616002	PAX2	5076	HP:0000093	Proteinuria
OMIM:616002	PAX2	5076	HP:0000097	Focal segmental glomerulosclerosis
OMIM:215140	LBR	3930	HP:0000476	Cystic hygroma
OMIM:215140	LBR	3930	HP:0002089	Pulmonary hypoplasia
OMIM:215140	LBR	3930	HP:0001640	Cardiomegaly
OMIM:215140	LBR	3930	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:215140	LBR	3930	HP:0000272	Malar flattening
OMIM:215140	LBR	3930	HP:0000316	Hypertelorism
OMIM:215140	LBR	3930	HP:0004331	Decreased skull ossification
OMIM:215140	LBR	3930	HP:0008873	Disproportionate short-limb short stature
OMIM:215140	LBR	3930	HP:0001804	Hypoplastic fingernail
OMIM:215140	LBR	3930	HP:0001433	Hepatosplenomegaly
OMIM:215140	LBR	3930	HP:0001004	Lymphedema
OMIM:215140	LBR	3930	HP:0003826	Stillbirth
OMIM:215140	LBR	3930	HP:0003015	Flared metaphysis
OMIM:215140	LBR	3930	HP:0004599	Absent or minimally ossified vertebral bodies
OMIM:215140	LBR	3930	HP:0001367	Abnormal joint morphology
OMIM:215140	LBR	3930	HP:0001561	Polyhydramnios
OMIM:215140	LBR	3930	HP:0002983	Micromelia
OMIM:215140	LBR	3930	HP:0001802	Absent toenail
OMIM:215140	LBR	3930	HP:0000772	Abnormality of the ribs
OMIM:215140	LBR	3930	HP:0000347	Micrognathia
OMIM:215140	LBR	3930	HP:0005528	Bone marrow hypocellularity
OMIM:215140	LBR	3930	HP:0001877	Abnormality of erythrocytes
OMIM:215140	LBR	3930	HP:0000256	Macrocephaly
OMIM:215140	LBR	3930	HP:0004322	Short stature
OMIM:215140	LBR	3930	HP:0009803	Short phalanx of finger
OMIM:215140	LBR	3930	HP:0002787	Tracheal calcification
OMIM:215140	LBR	3930	HP:0100603	Toxemia of pregnancy
OMIM:215140	LBR	3930	HP:0008905	Rhizomelia
OMIM:215140	LBR	3930	HP:0001852	Sandal gap
OMIM:215140	LBR	3930	HP:0006487	Bowing of the long bones
OMIM:215140	LBR	3930	HP:0000692	Misalignment of teeth
OMIM:215140	LBR	3930	HP:0000773	Short ribs
OMIM:215140	LBR	3930	HP:0003107	Abnormality of cholesterol metabolism
OMIM:215140	LBR	3930	HP:0000348	High forehead
OMIM:215140	LBR	3930	HP:0008420	Punctate vertebral calcifications
OMIM:215140	LBR	3930	HP:0010675	Abnormal foot bone ossification
OMIM:215140	LBR	3930	HP:0000007	Autosomal recessive inheritance
OMIM:215140	LBR	3930	HP:0004348	Abnormality of bone mineral density
OMIM:215140	LBR	3930	HP:0010655	Epiphyseal stippling
OMIM:215140	LBR	3930	HP:0000782	Abnormality of the scapula
OMIM:215140	LBR	3930	HP:0002566	Intestinal malrotation
OMIM:215140	LBR	3930	HP:0001156	Brachydactyly syndrome
OMIM:215140	LBR	3930	HP:0002240	Hepatomegaly
OMIM:215140	LBR	3930	HP:0002101	Abnormal lung lobation
OMIM:215140	LBR	3930	HP:0000774	Narrow chest
OMIM:215140	LBR	3930	HP:0003021	Metaphyseal cupping
OMIM:215140	LBR	3930	HP:0009826	Limb undergrowth
OMIM:215140	LBR	3930	HP:0000878	11 pairs of ribs
OMIM:215140	LBR	3930	HP:0001162	Postaxial hand polydactyly
OMIM:215140	LBR	3930	HP:0000327	Hypoplasia of the maxilla
OMIM:215140	LBR	3930	HP:0005280	Depressed nasal bridge
OMIM:215140	LBR	3930	HP:0009107	Abnormal ossification involving the femoral head and neck
OMIM:215140	LBR	3930	HP:0000369	Low-set ears
OMIM:215140	LBR	3930	HP:0001539	Omphalocele
OMIM:215140	LBR	3930	HP:0001552	Barrel-shaped chest
OMIM:157700	DCHS1	8642	HP:0001065	Striae distensae
OMIM:157700	DCHS1	8642	HP:0000006	Autosomal dominant inheritance
OMIM:157700	DCHS1	8642	HP:0001653	Mitral regurgitation
OMIM:157700	DCHS1	8642	HP:0000767	Pectus excavatum
OMIM:157700	DCHS1	8642	HP:0001634	Mitral valve prolapse
OMIM:157700	DCHS1	8642	HP:0000218	High palate
OMIM:615356	TRAPPC11	60684	HP:0002072	Chorea
OMIM:615356	TRAPPC11	60684	HP:0004322	Short stature
OMIM:615356	TRAPPC11	60684	HP:0003326	Myalgia
OMIM:615356	TRAPPC11	60684	HP:0001251	Ataxia
OMIM:615356	TRAPPC11	60684	HP:0000518	Cataract
OMIM:615356	TRAPPC11	60684	HP:0001337	Tremor
OMIM:615356	TRAPPC11	60684	HP:0002305	Athetosis
OMIM:615356	TRAPPC11	60684	HP:0000545	Myopia
OMIM:615356	TRAPPC11	60684	HP:0001252	Muscular hypotonia
OMIM:615356	TRAPPC11	60684	HP:0001263	Global developmental delay
OMIM:615356	TRAPPC11	60684	HP:0003701	Proximal muscle weakness
OMIM:615356	TRAPPC11	60684	HP:0002650	Scoliosis
OMIM:615356	TRAPPC11	60684	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615356	TRAPPC11	60684	HP:0000252	Microcephaly
OMIM:615356	TRAPPC11	60684	HP:0001385	Hip dysplasia
OMIM:615356	TRAPPC11	60684	HP:0003812	Phenotypic variability
OMIM:615356	TRAPPC11	60684	HP:0000486	Strabismus
OMIM:615356	TRAPPC11	60684	HP:0001332	Dystonia
OMIM:615356	TRAPPC11	60684	HP:0000007	Autosomal recessive inheritance
OMIM:615356	TRAPPC11	60684	HP:0003394	Muscle cramps
OMIM:615356	TRAPPC11	60684	HP:0006785	Limb-girdle muscular dystrophy
OMIM:612098	ACTC1	70	HP:0011675	Arrhythmia
OMIM:612098	ACTC1	70	HP:0001639	Hypertrophic cardiomyopathy
OMIM:612098	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:615878	TJP2	9414	HP:0001399	Hepatic failure
OMIM:615878	TJP2	9414	HP:0001409	Portal hypertension
OMIM:615878	TJP2	9414	HP:0001406	Intrahepatic cholestasis
OMIM:615878	ABCB11	8647	HP:0001399	Hepatic failure
OMIM:615878	ABCB11	8647	HP:0001409	Portal hypertension
OMIM:615878	ABCB11	8647	HP:0001406	Intrahepatic cholestasis
OMIM:614976	MEGF8	1954	HP:0005280	Depressed nasal bridge
OMIM:614976	MEGF8	1954	HP:0000189	Narrow palate
OMIM:614976	MEGF8	1954	HP:0000535	Sparse eyebrow
OMIM:614976	MEGF8	1954	HP:0006610	Wide intermamillary distance
OMIM:614976	MEGF8	1954	HP:0011304	Broad thumb
OMIM:614976	MEGF8	1954	HP:0000369	Low-set ears
OMIM:614976	MEGF8	1954	HP:0100259	Postaxial polydactyly
OMIM:614976	MEGF8	1954	HP:0000263	Oxycephaly
OMIM:614976	MEGF8	1954	HP:0001537	Umbilical hernia
OMIM:614976	MEGF8	1954	HP:0000767	Pectus excavatum
OMIM:614976	MEGF8	1954	HP:0001696	Situs inversus totalis
OMIM:614976	MEGF8	1954	HP:0000465	Webbed neck
OMIM:614976	MEGF8	1954	HP:0000248	Brachycephaly
OMIM:614976	MEGF8	1954	HP:0100258	Preaxial polydactyly
OMIM:614976	MEGF8	1954	HP:0002007	Frontal bossing
OMIM:614976	MEGF8	1954	HP:0000470	Short neck
OMIM:614976	MEGF8	1954	HP:0000049	Shawl scrotum
OMIM:614976	MEGF8	1954	HP:0000582	Upslanted palpebral fissure
OMIM:614976	MEGF8	1954	HP:0000316	Hypertelorism
OMIM:614976	MEGF8	1954	HP:0000973	Cutis laxa
OMIM:614976	MEGF8	1954	HP:0001643	Patent ductus arteriosus
OMIM:614976	MEGF8	1954	HP:0010554	Cutaneous finger syndactyly
OMIM:614976	MEGF8	1954	HP:0012385	Camptodactyly
OMIM:614976	MEGF8	1954	HP:0000028	Cryptorchidism
OMIM:614976	MEGF8	1954	HP:0000768	Pectus carinatum
OMIM:614976	MEGF8	1954	HP:0000218	High palate
OMIM:614976	MEGF8	1954	HP:0001156	Brachydactyly syndrome
OMIM:614976	MEGF8	1954	HP:0001513	Obesity
OMIM:614976	MEGF8	1954	HP:0000463	Anteverted nares
OMIM:614976	MEGF8	1954	HP:0010239	Aplasia of the middle phalanx of the hand
OMIM:614976	MEGF8	1954	HP:0000007	Autosomal recessive inheritance
OMIM:614976	MEGF8	1954	HP:0000431	Wide nasal bridge
OMIM:614976	MEGF8	1954	HP:0011800	Hypoplasia of midface
OMIM:614976	MEGF8	1954	HP:0002553	Highly arched eyebrow
OMIM:614976	MEGF8	1954	HP:0000243	Trigonocephaly
OMIM:614976	MEGF8	1954	HP:0001631	Atria septal defect
OMIM:614976	MEGF8	1954	HP:0002558	Supernumerary nipple
OMIM:614976	MEGF8	1954	HP:0002812	Coxa vara
OMIM:614976	MEGF8	1954	HP:0000054	Micropenis
OMIM:614976	MEGF8	1954	HP:0000411	Protruding ear
OMIM:614976	MEGF8	1954	HP:0000286	Epicanthus
OMIM:614976	MEGF8	1954	HP:0000278	Retrognathia
OMIM:614976	MEGF8	1954	HP:0001669	Transposition of the great arteries
OMIM:614976	MEGF8	1954	HP:0002557	Hypoplastic nipples
OMIM:614976	MEGF8	1954	HP:0001762	Talipes equinovarus
OMIM:614976	RAB23	51715	HP:0005280	Depressed nasal bridge
OMIM:614976	RAB23	51715	HP:0000189	Narrow palate
OMIM:614976	RAB23	51715	HP:0000535	Sparse eyebrow
OMIM:614976	RAB23	51715	HP:0006610	Wide intermamillary distance
OMIM:614976	RAB23	51715	HP:0011304	Broad thumb
OMIM:614976	RAB23	51715	HP:0000369	Low-set ears
OMIM:614976	RAB23	51715	HP:0100259	Postaxial polydactyly
OMIM:614976	RAB23	51715	HP:0000263	Oxycephaly
OMIM:614976	RAB23	51715	HP:0001537	Umbilical hernia
OMIM:614976	RAB23	51715	HP:0000767	Pectus excavatum
OMIM:614976	RAB23	51715	HP:0001696	Situs inversus totalis
OMIM:614976	RAB23	51715	HP:0000465	Webbed neck
OMIM:614976	RAB23	51715	HP:0000248	Brachycephaly
OMIM:614976	RAB23	51715	HP:0100258	Preaxial polydactyly
OMIM:614976	RAB23	51715	HP:0002007	Frontal bossing
OMIM:614976	RAB23	51715	HP:0000470	Short neck
OMIM:614976	RAB23	51715	HP:0000049	Shawl scrotum
OMIM:614976	RAB23	51715	HP:0000582	Upslanted palpebral fissure
OMIM:614976	RAB23	51715	HP:0000316	Hypertelorism
OMIM:614976	RAB23	51715	HP:0000973	Cutis laxa
OMIM:614976	RAB23	51715	HP:0001643	Patent ductus arteriosus
OMIM:614976	RAB23	51715	HP:0010554	Cutaneous finger syndactyly
OMIM:614976	RAB23	51715	HP:0012385	Camptodactyly
OMIM:614976	RAB23	51715	HP:0000028	Cryptorchidism
OMIM:614976	RAB23	51715	HP:0000768	Pectus carinatum
OMIM:614976	RAB23	51715	HP:0000218	High palate
OMIM:614976	RAB23	51715	HP:0001156	Brachydactyly syndrome
OMIM:614976	RAB23	51715	HP:0001513	Obesity
OMIM:614976	RAB23	51715	HP:0000463	Anteverted nares
OMIM:614976	RAB23	51715	HP:0010239	Aplasia of the middle phalanx of the hand
OMIM:614976	RAB23	51715	HP:0000007	Autosomal recessive inheritance
OMIM:614976	RAB23	51715	HP:0000431	Wide nasal bridge
OMIM:614976	RAB23	51715	HP:0011800	Hypoplasia of midface
OMIM:614976	RAB23	51715	HP:0002553	Highly arched eyebrow
OMIM:614976	RAB23	51715	HP:0000243	Trigonocephaly
OMIM:614976	RAB23	51715	HP:0001631	Atria septal defect
OMIM:614976	RAB23	51715	HP:0002558	Supernumerary nipple
OMIM:614976	RAB23	51715	HP:0002812	Coxa vara
OMIM:614976	RAB23	51715	HP:0000054	Micropenis
OMIM:614976	RAB23	51715	HP:0000411	Protruding ear
OMIM:614976	RAB23	51715	HP:0000286	Epicanthus
OMIM:614976	RAB23	51715	HP:0000278	Retrognathia
OMIM:614976	RAB23	51715	HP:0001669	Transposition of the great arteries
OMIM:614976	RAB23	51715	HP:0002557	Hypoplastic nipples
OMIM:614976	RAB23	51715	HP:0001762	Talipes equinovarus
OMIM:613122	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:613122	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:613122	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613122	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:613122	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613122	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:613122	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613122	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:613122	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:613122	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:613122	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613122	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:613122	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:613122	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:613122	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:613122	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:613122	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613122	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:613122	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:613122	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:613122	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:613122	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:613122	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:613122	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:613122	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:613122	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613122	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:613122	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:613122	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:613122	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:613122	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:613122	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:613122	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:613122	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:613122	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:613122	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:613122	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:613122	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:613122	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:608051	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:608051	PROM1	8842	HP:0007722	Retinal pigment epithelial atrophy
OMIM:608051	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:608051	PROM1	8842	HP:0000603	Central scotoma
OMIM:608051	PROM1	8842	HP:0007641	Dyschromatopsia
OMIM:615486	MARS	4141	HP:0001410	Decreased liver function
OMIM:615486	MARS	4141	HP:0002240	Hepatomegaly
OMIM:615486	MARS	4141	HP:0002094	Dyspnea
OMIM:615486	MARS	4141	HP:0001508	Failure to thrive
OMIM:615486	MARS	4141	HP:0002910	Elevated hepatic transaminases
OMIM:615486	MARS	4141	HP:0001217	Clubbing
OMIM:615486	MARS	4141	HP:0001394	Cirrhosis
OMIM:615486	MARS	4141	HP:0001397	Hepatic steatosis
OMIM:612643	DIAPH1	1729	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:612643	CEACAM16	388551	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:612643	SLC17A8	246213	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:612643	TJP2	9414	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:612643	ACTG1	71	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:612643	CCDC50	152137	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:612643	MIR96	407053	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:612643	GJB2	2706	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:612643	POU4F3	5459	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:612643	GJB3	2707	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:612643	MYH9	4627	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:612643	CRYM	1428	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:612643	COL11A2	1302	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:612643	EYA4	2070	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:612643	DFNA5	1687	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:612643	DIAPH3	81624	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:612643	TMC1	117531	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:612643	COCH	1690	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:612643	OSBPL2	9885	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:612643	SIX1	6495	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:612643	TECTA	7007	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:612643	MYO1A	4640	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:612643	MYO1C	4641	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:612643	MYO6	4646	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:612643	MYO7A	4647	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:612643	GRHL2	79977	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:612643	DIABLO	56616	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:612643	MYH14	79784	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:612643	P2RX2	22953	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:612643	WFS1	7466	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:612643	TNC	3371	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:612643	KCNQ4	9132	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:612643	HOMER2	9455	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:612643	GJB6	10804	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:612643	TBC1D24	57465	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:611588	FKTN	2218	HP:0001265	Hyporeflexia
OMIM:611588	FKTN	2218	HP:0001762	Talipes equinovarus
OMIM:611588	FKTN	2218	HP:0001371	Flexion contracture
OMIM:611588	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:611588	FKTN	2218	HP:0003593	Infantile onset
OMIM:611588	FKTN	2218	HP:0003307	Hyperlordosis
OMIM:611588	FKTN	2218	HP:0003676	Progressive
OMIM:611588	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611588	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:611588	FKTN	2218	HP:0000767	Pectus excavatum
OMIM:611588	FKTN	2218	HP:0001270	Motor delay
OMIM:611588	FKTN	2218	HP:0001252	Muscular hypotonia
OMIM:611588	FKTN	2218	HP:0003828	Variable expressivity
OMIM:611588	FKTN	2218	HP:0003712	Skeletal muscle hypertrophy
OMIM:611588	FKTN	2218	HP:0003391	Gowers sign
OMIM:242670	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:242670	DNAAF2	55172	HP:0012263	Immotile cilia
OMIM:242670	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:242670	CCNO	10309	HP:0000246	Sinusitis
OMIM:242670	CCNO	10309	HP:0012263	Immotile cilia
OMIM:242670	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:242670	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:242670	DNAAF5	54919	HP:0012263	Immotile cilia
OMIM:242670	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:242670	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:242670	DNAAF3	352909	HP:0012263	Immotile cilia
OMIM:242670	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:242670	DNAI1	27019	HP:0000246	Sinusitis
OMIM:242670	DNAI1	27019	HP:0012263	Immotile cilia
OMIM:242670	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:242670	DRC1	92749	HP:0000246	Sinusitis
OMIM:242670	DRC1	92749	HP:0012263	Immotile cilia
OMIM:242670	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:242670	SPAG1	6674	HP:0000246	Sinusitis
OMIM:242670	SPAG1	6674	HP:0012263	Immotile cilia
OMIM:242670	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:242670	RSPH3	83861	HP:0000246	Sinusitis
OMIM:242670	RSPH3	83861	HP:0012263	Immotile cilia
OMIM:242670	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:242670	RPGR	6103	HP:0000246	Sinusitis
OMIM:242670	RPGR	6103	HP:0012263	Immotile cilia
OMIM:242670	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:242670	LRRC6	23639	HP:0000246	Sinusitis
OMIM:242670	LRRC6	23639	HP:0012263	Immotile cilia
OMIM:242670	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:242670	DNAL1	83544	HP:0000246	Sinusitis
OMIM:242670	DNAL1	83544	HP:0012263	Immotile cilia
OMIM:242670	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:242670	ARMC4	55130	HP:0000246	Sinusitis
OMIM:242670	ARMC4	55130	HP:0012263	Immotile cilia
OMIM:242670	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:242670	CCDC103	388389	HP:0000246	Sinusitis
OMIM:242670	CCDC103	388389	HP:0012263	Immotile cilia
OMIM:242670	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:242670	OFD1	8481	HP:0000246	Sinusitis
OMIM:242670	OFD1	8481	HP:0012263	Immotile cilia
OMIM:242670	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:242670	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:242670	DNAAF1	123872	HP:0012263	Immotile cilia
OMIM:242670	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:242670	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:242670	RSPH4A	345895	HP:0012263	Immotile cilia
OMIM:242670	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:242670	RSPH1	89765	HP:0000246	Sinusitis
OMIM:242670	RSPH1	89765	HP:0012263	Immotile cilia
OMIM:242670	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:242670	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:242670	ZMYND10	51364	HP:0012263	Immotile cilia
OMIM:242670	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:242670	DNAH5	1767	HP:0000246	Sinusitis
OMIM:242670	DNAH5	1767	HP:0012263	Immotile cilia
OMIM:242670	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:242670	CCDC65	85478	HP:0000246	Sinusitis
OMIM:242670	CCDC65	85478	HP:0012263	Immotile cilia
OMIM:242670	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:242670	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:242670	C21ORF59	56683	HP:0012263	Immotile cilia
OMIM:242670	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:242670	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:242670	DYX1C1	161582	HP:0012263	Immotile cilia
OMIM:242670	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:242670	CCDC151	115948	HP:0000246	Sinusitis
OMIM:242670	CCDC151	115948	HP:0012263	Immotile cilia
OMIM:242670	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:242670	RSPH9	221421	HP:0000246	Sinusitis
OMIM:242670	RSPH9	221421	HP:0012263	Immotile cilia
OMIM:242670	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:242670	CCDC39	339829	HP:0000246	Sinusitis
OMIM:242670	CCDC39	339829	HP:0012263	Immotile cilia
OMIM:242670	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:242670	HYDIN	54768	HP:0000246	Sinusitis
OMIM:242670	HYDIN	54768	HP:0012263	Immotile cilia
OMIM:242670	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:242670	CCDC114	93233	HP:0000246	Sinusitis
OMIM:242670	CCDC114	93233	HP:0012263	Immotile cilia
OMIM:242670	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:242670	NME8	51314	HP:0000246	Sinusitis
OMIM:242670	NME8	51314	HP:0012263	Immotile cilia
OMIM:242670	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:242670	CCDC40	55036	HP:0000246	Sinusitis
OMIM:242670	CCDC40	55036	HP:0012263	Immotile cilia
OMIM:242670	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:242670	DNAH11	8701	HP:0000246	Sinusitis
OMIM:242670	DNAH11	8701	HP:0012263	Immotile cilia
OMIM:242670	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:242670	DNAI2	64446	HP:0000246	Sinusitis
OMIM:242670	DNAI2	64446	HP:0012263	Immotile cilia
OMIM:242670	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:242670	GAS8	2622	HP:0000246	Sinusitis
OMIM:242670	GAS8	2622	HP:0012263	Immotile cilia
OMIM:242670	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:608996	FOXL2	668	HP:0000006	Autosomal dominant inheritance
OMIM:615632	ATL3	25923	HP:0001822	Hallux valgus
OMIM:615632	ATL3	25923	HP:0000006	Autosomal dominant inheritance
OMIM:615632	ATL3	25923	HP:0002754	Osteomyelitis
OMIM:615632	ATL3	25923	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:615632	ATL3	25923	HP:0000962	Hyperkeratosis
OMIM:615632	ATL1	51062	HP:0001822	Hallux valgus
OMIM:615632	ATL1	51062	HP:0000006	Autosomal dominant inheritance
OMIM:615632	ATL1	51062	HP:0002754	Osteomyelitis
OMIM:615632	ATL1	51062	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:615632	ATL1	51062	HP:0000962	Hyperkeratosis
OMIM:615632	SPTLC2	9517	HP:0001822	Hallux valgus
OMIM:615632	SPTLC2	9517	HP:0000006	Autosomal dominant inheritance
OMIM:615632	SPTLC2	9517	HP:0002754	Osteomyelitis
OMIM:615632	SPTLC2	9517	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:615632	SPTLC2	9517	HP:0000962	Hyperkeratosis
OMIM:615632	SPTLC1	10558	HP:0001822	Hallux valgus
OMIM:615632	SPTLC1	10558	HP:0000006	Autosomal dominant inheritance
OMIM:615632	SPTLC1	10558	HP:0002754	Osteomyelitis
OMIM:615632	SPTLC1	10558	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:615632	SPTLC1	10558	HP:0000962	Hyperkeratosis
OMIM:614874	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:614874	DNAAF2	55172	HP:0002093	Respiratory insufficiency
OMIM:614874	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:614874	DNAAF2	55172	HP:0011108	Recurrent sinusitis
OMIM:614874	DNAAF2	55172	HP:0003593	Infantile onset
OMIM:614874	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DNAAF2	55172	HP:0003251	Male infertility
OMIM:614874	DNAAF2	55172	HP:0012262	Abnormal ciliary motility
OMIM:614874	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:614874	CCNO	10309	HP:0002093	Respiratory insufficiency
OMIM:614874	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:614874	CCNO	10309	HP:0011108	Recurrent sinusitis
OMIM:614874	CCNO	10309	HP:0003593	Infantile onset
OMIM:614874	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:614874	CCNO	10309	HP:0003251	Male infertility
OMIM:614874	CCNO	10309	HP:0012262	Abnormal ciliary motility
OMIM:614874	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:614874	DNAAF5	54919	HP:0002093	Respiratory insufficiency
OMIM:614874	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:614874	DNAAF5	54919	HP:0011108	Recurrent sinusitis
OMIM:614874	DNAAF5	54919	HP:0003593	Infantile onset
OMIM:614874	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DNAAF5	54919	HP:0003251	Male infertility
OMIM:614874	DNAAF5	54919	HP:0012262	Abnormal ciliary motility
OMIM:614874	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:614874	DNAAF3	352909	HP:0002093	Respiratory insufficiency
OMIM:614874	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:614874	DNAAF3	352909	HP:0011108	Recurrent sinusitis
OMIM:614874	DNAAF3	352909	HP:0003593	Infantile onset
OMIM:614874	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DNAAF3	352909	HP:0003251	Male infertility
OMIM:614874	DNAAF3	352909	HP:0012262	Abnormal ciliary motility
OMIM:614874	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:614874	DNAI1	27019	HP:0002093	Respiratory insufficiency
OMIM:614874	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:614874	DNAI1	27019	HP:0011108	Recurrent sinusitis
OMIM:614874	DNAI1	27019	HP:0003593	Infantile onset
OMIM:614874	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DNAI1	27019	HP:0003251	Male infertility
OMIM:614874	DNAI1	27019	HP:0012262	Abnormal ciliary motility
OMIM:614874	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:614874	DRC1	92749	HP:0002093	Respiratory insufficiency
OMIM:614874	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:614874	DRC1	92749	HP:0011108	Recurrent sinusitis
OMIM:614874	DRC1	92749	HP:0003593	Infantile onset
OMIM:614874	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DRC1	92749	HP:0003251	Male infertility
OMIM:614874	DRC1	92749	HP:0012262	Abnormal ciliary motility
OMIM:614874	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:614874	SPAG1	6674	HP:0002093	Respiratory insufficiency
OMIM:614874	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:614874	SPAG1	6674	HP:0011108	Recurrent sinusitis
OMIM:614874	SPAG1	6674	HP:0003593	Infantile onset
OMIM:614874	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:614874	SPAG1	6674	HP:0003251	Male infertility
OMIM:614874	SPAG1	6674	HP:0012262	Abnormal ciliary motility
OMIM:614874	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:614874	RSPH3	83861	HP:0002093	Respiratory insufficiency
OMIM:614874	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:614874	RSPH3	83861	HP:0011108	Recurrent sinusitis
OMIM:614874	RSPH3	83861	HP:0003593	Infantile onset
OMIM:614874	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:614874	RSPH3	83861	HP:0003251	Male infertility
OMIM:614874	RSPH3	83861	HP:0012262	Abnormal ciliary motility
OMIM:614874	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:614874	RPGR	6103	HP:0002093	Respiratory insufficiency
OMIM:614874	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:614874	RPGR	6103	HP:0011108	Recurrent sinusitis
OMIM:614874	RPGR	6103	HP:0003593	Infantile onset
OMIM:614874	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:614874	RPGR	6103	HP:0003251	Male infertility
OMIM:614874	RPGR	6103	HP:0012262	Abnormal ciliary motility
OMIM:614874	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:614874	LRRC6	23639	HP:0002093	Respiratory insufficiency
OMIM:614874	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:614874	LRRC6	23639	HP:0011108	Recurrent sinusitis
OMIM:614874	LRRC6	23639	HP:0003593	Infantile onset
OMIM:614874	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:614874	LRRC6	23639	HP:0003251	Male infertility
OMIM:614874	LRRC6	23639	HP:0012262	Abnormal ciliary motility
OMIM:614874	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:614874	DNAL1	83544	HP:0002093	Respiratory insufficiency
OMIM:614874	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:614874	DNAL1	83544	HP:0011108	Recurrent sinusitis
OMIM:614874	DNAL1	83544	HP:0003593	Infantile onset
OMIM:614874	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DNAL1	83544	HP:0003251	Male infertility
OMIM:614874	DNAL1	83544	HP:0012262	Abnormal ciliary motility
OMIM:614874	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:614874	ARMC4	55130	HP:0002093	Respiratory insufficiency
OMIM:614874	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:614874	ARMC4	55130	HP:0011108	Recurrent sinusitis
OMIM:614874	ARMC4	55130	HP:0003593	Infantile onset
OMIM:614874	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:614874	ARMC4	55130	HP:0003251	Male infertility
OMIM:614874	ARMC4	55130	HP:0012262	Abnormal ciliary motility
OMIM:614874	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:614874	CCDC103	388389	HP:0002093	Respiratory insufficiency
OMIM:614874	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:614874	CCDC103	388389	HP:0011108	Recurrent sinusitis
OMIM:614874	CCDC103	388389	HP:0003593	Infantile onset
OMIM:614874	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:614874	CCDC103	388389	HP:0003251	Male infertility
OMIM:614874	CCDC103	388389	HP:0012262	Abnormal ciliary motility
OMIM:614874	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:614874	OFD1	8481	HP:0002093	Respiratory insufficiency
OMIM:614874	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:614874	OFD1	8481	HP:0011108	Recurrent sinusitis
OMIM:614874	OFD1	8481	HP:0003593	Infantile onset
OMIM:614874	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:614874	OFD1	8481	HP:0003251	Male infertility
OMIM:614874	OFD1	8481	HP:0012262	Abnormal ciliary motility
OMIM:614874	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:614874	DNAAF1	123872	HP:0002093	Respiratory insufficiency
OMIM:614874	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:614874	DNAAF1	123872	HP:0011108	Recurrent sinusitis
OMIM:614874	DNAAF1	123872	HP:0003593	Infantile onset
OMIM:614874	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DNAAF1	123872	HP:0003251	Male infertility
OMIM:614874	DNAAF1	123872	HP:0012262	Abnormal ciliary motility
OMIM:614874	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:614874	RSPH4A	345895	HP:0002093	Respiratory insufficiency
OMIM:614874	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:614874	RSPH4A	345895	HP:0011108	Recurrent sinusitis
OMIM:614874	RSPH4A	345895	HP:0003593	Infantile onset
OMIM:614874	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:614874	RSPH4A	345895	HP:0003251	Male infertility
OMIM:614874	RSPH4A	345895	HP:0012262	Abnormal ciliary motility
OMIM:614874	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:614874	RSPH1	89765	HP:0002093	Respiratory insufficiency
OMIM:614874	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:614874	RSPH1	89765	HP:0011108	Recurrent sinusitis
OMIM:614874	RSPH1	89765	HP:0003593	Infantile onset
OMIM:614874	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:614874	RSPH1	89765	HP:0003251	Male infertility
OMIM:614874	RSPH1	89765	HP:0012262	Abnormal ciliary motility
OMIM:614874	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:614874	ZMYND10	51364	HP:0002093	Respiratory insufficiency
OMIM:614874	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:614874	ZMYND10	51364	HP:0011108	Recurrent sinusitis
OMIM:614874	ZMYND10	51364	HP:0003593	Infantile onset
OMIM:614874	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:614874	ZMYND10	51364	HP:0003251	Male infertility
OMIM:614874	ZMYND10	51364	HP:0012262	Abnormal ciliary motility
OMIM:614874	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:614874	DNAH5	1767	HP:0002093	Respiratory insufficiency
OMIM:614874	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:614874	DNAH5	1767	HP:0011108	Recurrent sinusitis
OMIM:614874	DNAH5	1767	HP:0003593	Infantile onset
OMIM:614874	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DNAH5	1767	HP:0003251	Male infertility
OMIM:614874	DNAH5	1767	HP:0012262	Abnormal ciliary motility
OMIM:614874	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:614874	CCDC65	85478	HP:0002093	Respiratory insufficiency
OMIM:614874	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:614874	CCDC65	85478	HP:0011108	Recurrent sinusitis
OMIM:614874	CCDC65	85478	HP:0003593	Infantile onset
OMIM:614874	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:614874	CCDC65	85478	HP:0003251	Male infertility
OMIM:614874	CCDC65	85478	HP:0012262	Abnormal ciliary motility
OMIM:614874	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:614874	C21ORF59	56683	HP:0002093	Respiratory insufficiency
OMIM:614874	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:614874	C21ORF59	56683	HP:0011108	Recurrent sinusitis
OMIM:614874	C21ORF59	56683	HP:0003593	Infantile onset
OMIM:614874	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:614874	C21ORF59	56683	HP:0003251	Male infertility
OMIM:614874	C21ORF59	56683	HP:0012262	Abnormal ciliary motility
OMIM:614874	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:614874	DYX1C1	161582	HP:0002093	Respiratory insufficiency
OMIM:614874	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:614874	DYX1C1	161582	HP:0011108	Recurrent sinusitis
OMIM:614874	DYX1C1	161582	HP:0003593	Infantile onset
OMIM:614874	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DYX1C1	161582	HP:0003251	Male infertility
OMIM:614874	DYX1C1	161582	HP:0012262	Abnormal ciliary motility
OMIM:614874	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:614874	CCDC151	115948	HP:0002093	Respiratory insufficiency
OMIM:614874	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:614874	CCDC151	115948	HP:0011108	Recurrent sinusitis
OMIM:614874	CCDC151	115948	HP:0003593	Infantile onset
OMIM:614874	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:614874	CCDC151	115948	HP:0003251	Male infertility
OMIM:614874	CCDC151	115948	HP:0012262	Abnormal ciliary motility
OMIM:614874	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:614874	RSPH9	221421	HP:0002093	Respiratory insufficiency
OMIM:614874	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:614874	RSPH9	221421	HP:0011108	Recurrent sinusitis
OMIM:614874	RSPH9	221421	HP:0003593	Infantile onset
OMIM:614874	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:614874	RSPH9	221421	HP:0003251	Male infertility
OMIM:614874	RSPH9	221421	HP:0012262	Abnormal ciliary motility
OMIM:614874	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:614874	CCDC39	339829	HP:0002093	Respiratory insufficiency
OMIM:614874	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:614874	CCDC39	339829	HP:0011108	Recurrent sinusitis
OMIM:614874	CCDC39	339829	HP:0003593	Infantile onset
OMIM:614874	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:614874	CCDC39	339829	HP:0003251	Male infertility
OMIM:614874	CCDC39	339829	HP:0012262	Abnormal ciliary motility
OMIM:614874	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:614874	HYDIN	54768	HP:0002093	Respiratory insufficiency
OMIM:614874	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:614874	HYDIN	54768	HP:0011108	Recurrent sinusitis
OMIM:614874	HYDIN	54768	HP:0003593	Infantile onset
OMIM:614874	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:614874	HYDIN	54768	HP:0003251	Male infertility
OMIM:614874	HYDIN	54768	HP:0012262	Abnormal ciliary motility
OMIM:614874	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:614874	CCDC114	93233	HP:0002093	Respiratory insufficiency
OMIM:614874	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:614874	CCDC114	93233	HP:0011108	Recurrent sinusitis
OMIM:614874	CCDC114	93233	HP:0003593	Infantile onset
OMIM:614874	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:614874	CCDC114	93233	HP:0003251	Male infertility
OMIM:614874	CCDC114	93233	HP:0012262	Abnormal ciliary motility
OMIM:614874	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:614874	NME8	51314	HP:0002093	Respiratory insufficiency
OMIM:614874	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:614874	NME8	51314	HP:0011108	Recurrent sinusitis
OMIM:614874	NME8	51314	HP:0003593	Infantile onset
OMIM:614874	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:614874	NME8	51314	HP:0003251	Male infertility
OMIM:614874	NME8	51314	HP:0012262	Abnormal ciliary motility
OMIM:614874	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:614874	CCDC40	55036	HP:0002093	Respiratory insufficiency
OMIM:614874	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:614874	CCDC40	55036	HP:0011108	Recurrent sinusitis
OMIM:614874	CCDC40	55036	HP:0003593	Infantile onset
OMIM:614874	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:614874	CCDC40	55036	HP:0003251	Male infertility
OMIM:614874	CCDC40	55036	HP:0012262	Abnormal ciliary motility
OMIM:614874	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:614874	DNAH11	8701	HP:0002093	Respiratory insufficiency
OMIM:614874	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:614874	DNAH11	8701	HP:0011108	Recurrent sinusitis
OMIM:614874	DNAH11	8701	HP:0003593	Infantile onset
OMIM:614874	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DNAH11	8701	HP:0003251	Male infertility
OMIM:614874	DNAH11	8701	HP:0012262	Abnormal ciliary motility
OMIM:614874	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:614874	DNAI2	64446	HP:0002093	Respiratory insufficiency
OMIM:614874	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:614874	DNAI2	64446	HP:0011108	Recurrent sinusitis
OMIM:614874	DNAI2	64446	HP:0003593	Infantile onset
OMIM:614874	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:614874	DNAI2	64446	HP:0003251	Male infertility
OMIM:614874	DNAI2	64446	HP:0012262	Abnormal ciliary motility
OMIM:614874	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:614874	GAS8	2622	HP:0002093	Respiratory insufficiency
OMIM:614874	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:614874	GAS8	2622	HP:0011108	Recurrent sinusitis
OMIM:614874	GAS8	2622	HP:0003593	Infantile onset
OMIM:614874	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:614874	GAS8	2622	HP:0003251	Male infertility
OMIM:614874	GAS8	2622	HP:0012262	Abnormal ciliary motility
OMIM:614199	LAMB2	3913	HP:0003774	Stage 5 chronic kidney disease
OMIM:614199	LAMB2	3913	HP:0000093	Proteinuria
OMIM:614199	LAMB2	3913	HP:0000486	Strabismus
OMIM:614199	LAMB2	3913	HP:0000100	Nephrotic syndrome
OMIM:614199	LAMB2	3913	HP:0000639	Nystagmus
OMIM:614199	LAMB2	3913	HP:0000545	Myopia
OMIM:614199	LAMB2	3913	HP:0000007	Autosomal recessive inheritance
OMIM:613672	MTPAP	55149	HP:0000639	Nystagmus
OMIM:613672	MTPAP	55149	HP:0000648	Optic atrophy
OMIM:613672	MTPAP	55149	HP:0000007	Autosomal recessive inheritance
OMIM:613672	MTPAP	55149	HP:0000750	Delayed speech and language development
OMIM:613672	MTPAP	55149	HP:0001265	Hyporeflexia
OMIM:613672	MTPAP	55149	HP:0003677	Slow progression
OMIM:613672	MTPAP	55149	HP:0000712	Emotional lability
OMIM:613672	MTPAP	55149	HP:0002313	Spastic paraparesis
OMIM:613672	MTPAP	55149	HP:0001260	Dysarthria
OMIM:613672	MTPAP	55149	HP:0003487	Babinski sign
OMIM:277450	GGCX	2677	HP:0010655	Epiphyseal stippling
OMIM:277450	GGCX	2677	HP:0001892	Abnormal bleeding
OMIM:277450	GGCX	2677	HP:0003196	Short nose
OMIM:277450	GGCX	2677	HP:0009882	Short distal phalanx of finger
OMIM:277450	GGCX	2677	HP:0000421	Epistaxis
OMIM:277450	GGCX	2677	HP:0000007	Autosomal recessive inheritance
OMIM:277450	GGCX	2677	HP:0000978	Bruising susceptibility
OMIM:277450	VKORC1	79001	HP:0010655	Epiphyseal stippling
OMIM:277450	VKORC1	79001	HP:0001892	Abnormal bleeding
OMIM:277450	VKORC1	79001	HP:0003196	Short nose
OMIM:277450	VKORC1	79001	HP:0009882	Short distal phalanx of finger
OMIM:277450	VKORC1	79001	HP:0000421	Epistaxis
OMIM:277450	VKORC1	79001	HP:0000007	Autosomal recessive inheritance
OMIM:277450	VKORC1	79001	HP:0000978	Bruising susceptibility
OMIM:600462	PUS1	80324	HP:0003128	Lactic acidosis
OMIM:600462	PUS1	80324	HP:0003546	Exercise intolerance
OMIM:600462	PUS1	80324	HP:0000218	High palate
OMIM:600462	PUS1	80324	HP:0000980	Pallor
OMIM:600462	PUS1	80324	HP:0002151	Increased serum lactate
OMIM:600462	PUS1	80324	HP:0001249	Intellectual disability
OMIM:600462	PUS1	80324	HP:0000347	Micrognathia
OMIM:600462	PUS1	80324	HP:0000007	Autosomal recessive inheritance
OMIM:600462	PUS1	80324	HP:0001931	Hypochromic anemia
OMIM:600462	PUS1	80324	HP:0000252	Microcephaly
OMIM:600462	YARS2	51067	HP:0003128	Lactic acidosis
OMIM:600462	YARS2	51067	HP:0003546	Exercise intolerance
OMIM:600462	YARS2	51067	HP:0000218	High palate
OMIM:600462	YARS2	51067	HP:0000980	Pallor
OMIM:600462	YARS2	51067	HP:0002151	Increased serum lactate
OMIM:600462	YARS2	51067	HP:0001249	Intellectual disability
OMIM:600462	YARS2	51067	HP:0000347	Micrognathia
OMIM:600462	YARS2	51067	HP:0000007	Autosomal recessive inheritance
OMIM:600462	YARS2	51067	HP:0001931	Hypochromic anemia
OMIM:600462	YARS2	51067	HP:0000252	Microcephaly
OMIM:613108	IL17RC	84818	HP:0000007	Autosomal recessive inheritance
OMIM:613108	STAT1	6772	HP:0000007	Autosomal recessive inheritance
OMIM:613108	CLEC7A	64581	HP:0000007	Autosomal recessive inheritance
OMIM:613108	IL17RA	23765	HP:0000007	Autosomal recessive inheritance
OMIM:613108	TRAF3IP2	10758	HP:0000007	Autosomal recessive inheritance
OMIM:613108	IL17F	112744	HP:0000007	Autosomal recessive inheritance
OMIM:613108	CARD9	64170	HP:0000007	Autosomal recessive inheritance
OMIM:140000	HOXA13	3209	HP:0000008	Abnormality of female internal genitalia
OMIM:140000	HOXA13	3209	HP:0010034	Short 1st metacarpal
OMIM:140000	HOXA13	3209	HP:0010624	Aplastic/hypoplastic toenail
OMIM:140000	HOXA13	3209	HP:0000076	Vesicoureteral reflux
OMIM:140000	HOXA13	3209	HP:0007477	Abnormal dermatoglyphics
OMIM:140000	HOXA13	3209	HP:0000054	Micropenis
OMIM:140000	HOXA13	3209	HP:0000083	Renal insufficiency
OMIM:140000	HOXA13	3209	HP:0004209	Clinodactyly of the 5th finger
OMIM:140000	HOXA13	3209	HP:0000010	Recurrent urinary tract infections
OMIM:140000	HOXA13	3209	HP:0009237	Short 5th finger
OMIM:140000	HOXA13	3209	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:140000	HOXA13	3209	HP:0009882	Short distal phalanx of finger
OMIM:140000	HOXA13	3209	HP:0000486	Strabismus
OMIM:140000	HOXA13	3209	HP:0008368	Tarsal synostosis
OMIM:140000	HOXA13	3209	HP:0005048	Synostosis of carpal bones
OMIM:140000	HOXA13	3209	HP:0001245	Small thenar eminence
OMIM:140000	HOXA13	3209	HP:0100627	Displacement of the external urethral meatus
OMIM:140000	HOXA13	3209	HP:0009623	Proximal placement of thumb
OMIM:140000	HOXA13	3209	HP:0001216	Delayed ossification of carpal bones
OMIM:140000	HOXA13	3209	HP:0010109	Short hallux
OMIM:140000	HOXA13	3209	HP:0000048	Bifid scrotum
OMIM:140000	HOXA13	3209	HP:0001629	Ventricular septal defect
OMIM:140000	HOXA13	3209	HP:0000006	Autosomal dominant inheritance
OMIM:140000	HOXA13	3209	HP:0000047	Hypospadias
OMIM:140000	HOXA13	3209	HP:0001162	Postaxial hand polydactyly
OMIM:140000	HOXA13	3209	HP:0000356	Abnormality of the outer ear
OMIM:140000	HOXA13	3209	HP:0010584	Pseudoepiphyses
OMIM:140000	HOXA13	3209	HP:0000041	Chordee
OMIM:140000	HOXA13	3209	HP:0001163	Abnormality of the metacarpal bones
OMIM:140000	HOXA13	3209	HP:0000960	Sacral dimple
ORPHANET:94063	LEMD3	23592	HP:0001743	Abnormality of the spleen
ORPHANET:94063	LEMD3	23592	HP:0002308	Arnold-Chiari malformation
ORPHANET:94063	LEMD3	23592	HP:0002650	Scoliosis
ORPHANET:94063	LEMD3	23592	HP:0000233	Thin vermilion border
ORPHANET:94063	LEMD3	23592	HP:0004322	Short stature
ORPHANET:94063	LEMD3	23592	HP:0000325	Triangular face
ORPHANET:94063	LEMD3	23592	HP:0000574	Thick eyebrow
ORPHANET:94063	LEMD3	23592	HP:0001337	Tremor
ORPHANET:94063	LEMD3	23592	HP:0002167	Neurological speech impairment
ORPHANET:94063	LEMD3	23592	HP:0100543	Cognitive impairment
ORPHANET:94063	LEMD3	23592	HP:0001000	Abnormality of skin pigmentation
ORPHANET:94063	LEMD3	23592	HP:0001511	Intrauterine growth retardation
ORPHANET:94063	LEMD3	23592	HP:0002007	Frontal bossing
ORPHANET:94063	LEMD3	23592	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:94063	LEMD3	23592	HP:0100542	Abnormal localization of kidney
ORPHANET:94063	LEMD3	23592	HP:0000490	Deeply set eye
ORPHANET:94063	LEMD3	23592	HP:0000347	Micrognathia
ORPHANET:94063	LEMD3	23592	HP:0003202	Skeletal muscle atrophy
ORPHANET:94063	LEMD3	23592	HP:0000664	Synophrys
ORPHANET:94063	LEMD3	23592	HP:0001252	Muscular hypotonia
ORPHANET:94063	LEMD3	23592	HP:0002566	Intestinal malrotation
ORPHANET:94063	LEMD3	23592	HP:0002652	Skeletal dysplasia
ORPHANET:94063	LEMD3	23592	HP:0005288	Abnormality of the nares
ORPHANET:94063	LEMD3	23592	HP:0000819	Diabetes mellitus
ORPHANET:94063	LEMD3	23592	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:94063	LEMD3	23592	HP:0002714	Downturned corners of mouth
ORPHANET:94063	LEMD3	23592	HP:0000426	Prominent nasal bridge
ORPHANET:94063	LEMD3	23592	HP:0009804	Reduced number of teeth
ORPHANET:94063	HMGA2	8091	HP:0001743	Abnormality of the spleen
ORPHANET:94063	HMGA2	8091	HP:0002308	Arnold-Chiari malformation
ORPHANET:94063	HMGA2	8091	HP:0002650	Scoliosis
ORPHANET:94063	HMGA2	8091	HP:0000233	Thin vermilion border
ORPHANET:94063	HMGA2	8091	HP:0004322	Short stature
ORPHANET:94063	HMGA2	8091	HP:0000325	Triangular face
ORPHANET:94063	HMGA2	8091	HP:0000574	Thick eyebrow
ORPHANET:94063	HMGA2	8091	HP:0001337	Tremor
ORPHANET:94063	HMGA2	8091	HP:0002167	Neurological speech impairment
ORPHANET:94063	HMGA2	8091	HP:0100543	Cognitive impairment
ORPHANET:94063	HMGA2	8091	HP:0001000	Abnormality of skin pigmentation
ORPHANET:94063	HMGA2	8091	HP:0001511	Intrauterine growth retardation
ORPHANET:94063	HMGA2	8091	HP:0002007	Frontal bossing
ORPHANET:94063	HMGA2	8091	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:94063	HMGA2	8091	HP:0100542	Abnormal localization of kidney
ORPHANET:94063	HMGA2	8091	HP:0000490	Deeply set eye
ORPHANET:94063	HMGA2	8091	HP:0000347	Micrognathia
ORPHANET:94063	HMGA2	8091	HP:0003202	Skeletal muscle atrophy
ORPHANET:94063	HMGA2	8091	HP:0000664	Synophrys
ORPHANET:94063	HMGA2	8091	HP:0001252	Muscular hypotonia
ORPHANET:94063	HMGA2	8091	HP:0002566	Intestinal malrotation
ORPHANET:94063	HMGA2	8091	HP:0002652	Skeletal dysplasia
ORPHANET:94063	HMGA2	8091	HP:0005288	Abnormality of the nares
ORPHANET:94063	HMGA2	8091	HP:0000819	Diabetes mellitus
ORPHANET:94063	HMGA2	8091	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:94063	HMGA2	8091	HP:0002714	Downturned corners of mouth
ORPHANET:94063	HMGA2	8091	HP:0000426	Prominent nasal bridge
ORPHANET:94063	HMGA2	8091	HP:0009804	Reduced number of teeth
OMIM:153670	GP1BA	2811	HP:0011877	Increased mean platelet volume
OMIM:153670	GP1BA	2811	HP:0000421	Epistaxis
OMIM:153670	GP1BA	2811	HP:0001878	Hemolytic anemia
OMIM:153670	GP1BA	2811	HP:0000006	Autosomal dominant inheritance
OMIM:153670	GP1BA	2811	HP:0000967	Petechiae
OMIM:153670	GP1BA	2811	HP:0001744	Splenomegaly
OMIM:153670	GP1BA	2811	HP:0000225	Gingival bleeding
OMIM:153670	GP1BA	2811	HP:0000978	Bruising susceptibility
OMIM:153670	GP1BB	2812	HP:0011877	Increased mean platelet volume
OMIM:153670	GP1BB	2812	HP:0000421	Epistaxis
OMIM:153670	GP1BB	2812	HP:0001878	Hemolytic anemia
OMIM:153670	GP1BB	2812	HP:0000006	Autosomal dominant inheritance
OMIM:153670	GP1BB	2812	HP:0000967	Petechiae
OMIM:153670	GP1BB	2812	HP:0001744	Splenomegaly
OMIM:153670	GP1BB	2812	HP:0000225	Gingival bleeding
OMIM:153670	GP1BB	2812	HP:0000978	Bruising susceptibility
OMIM:153670	GP9	2815	HP:0011877	Increased mean platelet volume
OMIM:153670	GP9	2815	HP:0000421	Epistaxis
OMIM:153670	GP9	2815	HP:0001878	Hemolytic anemia
OMIM:153670	GP9	2815	HP:0000006	Autosomal dominant inheritance
OMIM:153670	GP9	2815	HP:0000967	Petechiae
OMIM:153670	GP9	2815	HP:0001744	Splenomegaly
OMIM:153670	GP9	2815	HP:0000225	Gingival bleeding
OMIM:153670	GP9	2815	HP:0000978	Bruising susceptibility
OMIM:600794	BSCL2	26580	HP:0000006	Autosomal dominant inheritance
OMIM:600794	BSCL2	26580	HP:0001347	Hyperreflexia
OMIM:600794	BSCL2	26580	HP:0003393	Thenar muscle atrophy
OMIM:600794	BSCL2	26580	HP:0003677	Slow progression
OMIM:600794	BSCL2	26580	HP:0001761	Pes cavus
OMIM:600794	BSCL2	26580	HP:0001765	Hammertoe
OMIM:600794	BSCL2	26580	HP:0003674	Onset
OMIM:600794	BSCL2	26580	HP:0001763	Pes planus
OMIM:600794	BSCL2	26580	HP:0003693	Distal amyotrophy
OMIM:600794	BSCL2	26580	HP:0002460	Distal muscle weakness
OMIM:600794	GARS	2617	HP:0000006	Autosomal dominant inheritance
OMIM:600794	GARS	2617	HP:0001347	Hyperreflexia
OMIM:600794	GARS	2617	HP:0003393	Thenar muscle atrophy
OMIM:600794	GARS	2617	HP:0003677	Slow progression
OMIM:600794	GARS	2617	HP:0001761	Pes cavus
OMIM:600794	GARS	2617	HP:0001765	Hammertoe
OMIM:600794	GARS	2617	HP:0003674	Onset
OMIM:600794	GARS	2617	HP:0001763	Pes planus
OMIM:600794	GARS	2617	HP:0003693	Distal amyotrophy
OMIM:600794	GARS	2617	HP:0002460	Distal muscle weakness
OMIM:600794	REEP1	65055	HP:0000006	Autosomal dominant inheritance
OMIM:600794	REEP1	65055	HP:0001347	Hyperreflexia
OMIM:600794	REEP1	65055	HP:0003393	Thenar muscle atrophy
OMIM:600794	REEP1	65055	HP:0003677	Slow progression
OMIM:600794	REEP1	65055	HP:0001761	Pes cavus
OMIM:600794	REEP1	65055	HP:0001765	Hammertoe
OMIM:600794	REEP1	65055	HP:0003674	Onset
OMIM:600794	REEP1	65055	HP:0001763	Pes planus
OMIM:600794	REEP1	65055	HP:0003693	Distal amyotrophy
OMIM:600794	REEP1	65055	HP:0002460	Distal muscle weakness
OMIM:612244	ABCB1	5243	HP:0002037	Inflammation of the large intestine
OMIM:613206	GJC2	57165	HP:0001258	Spastic paraplegia
OMIM:613206	GJC2	57165	HP:0002936	Distal sensory impairment
OMIM:613206	GJC2	57165	HP:0001347	Hyperreflexia
OMIM:613206	GJC2	57165	HP:0000020	Urinary incontinence
OMIM:613206	GJC2	57165	HP:0002019	Constipation
OMIM:613206	GJC2	57165	HP:0001310	Dysmetria
OMIM:613206	GJC2	57165	HP:0006986	Upper limb spasticity
OMIM:613206	GJC2	57165	HP:0001761	Pes cavus
OMIM:613206	GJC2	57165	HP:0002061	Lower limb spasticity
OMIM:613206	GJC2	57165	HP:0000407	Sensorineural hearing impairment
OMIM:613206	GJC2	57165	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613206	GJC2	57165	HP:0001250	Seizures
OMIM:613206	GJC2	57165	HP:0000007	Autosomal recessive inheritance
OMIM:613206	GJC2	57165	HP:0003487	Babinski sign
OMIM:613206	GJC2	57165	HP:0001260	Dysarthria
OMIM:613206	GJC2	57165	HP:0002650	Scoliosis
OMIM:613206	GJC2	57165	HP:0002064	Spastic gait
OMIM:104100	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:104100	GJA1	2697	HP:0001231	Abnormality of the fingernails
OMIM:104100	GJA1	2697	HP:0000982	Palmoplantar keratoderma
OMIM:104100	GJA1	2697	HP:0001000	Abnormality of skin pigmentation
OMIM:104100	GJA1	2697	HP:0001596	Alopecia
OMIM:104100	GJA1	2697	HP:0003593	Infantile onset
OMIM:104100	GJA1	2697	HP:0002164	Nail dysplasia
OMIM:104100	GJA1	2697	HP:0011362	Abnormal hair quantity
OMIM:208230	WISP3	8838	HP:0002751	Kyphoscoliosis
OMIM:208230	WISP3	8838	HP:0000007	Autosomal recessive inheritance
OMIM:208230	WISP3	8838	HP:0004322	Short stature
OMIM:208230	WISP3	8838	HP:0002515	Waddling gait
OMIM:208230	WISP3	8838	HP:0002758	Osteoarthritis
OMIM:208230	WISP3	8838	HP:0003312	Abnormal form of the vertebral bodies
OMIM:208230	WISP3	8838	HP:0003071	Flattened epiphysis
OMIM:208230	WISP3	8838	HP:0000926	Platyspondyly
OMIM:208230	WISP3	8838	HP:0002808	Kyphosis
OMIM:208230	WISP3	8838	HP:0100490	Camptodactyly of finger
OMIM:208230	WISP3	8838	HP:0001760	Abnormality of the foot
OMIM:208230	WISP3	8838	HP:0001376	Limitation of joint mobility
OMIM:208230	WISP3	8838	HP:0002815	Abnormality of the knees
OMIM:208230	WISP3	8838	HP:0003016	Metaphyseal widening
OMIM:208230	WISP3	8838	HP:0002812	Coxa vara
OMIM:208230	WISP3	8838	HP:0001387	Joint stiffness
OMIM:208230	WISP3	8838	HP:0003272	Abnormality of the hip bone
OMIM:208230	WISP3	8838	HP:0000939	Osteoporosis
OMIM:208230	WISP3	8838	HP:0002355	Difficulty walking
OMIM:208230	WISP3	8838	HP:0002650	Scoliosis
OMIM:208230	WISP3	8838	HP:0002970	Genu varum
OMIM:208230	WISP3	8838	HP:0001324	Muscle weakness
OMIM:601371	CRYAA	1409	HP:0100018	Nuclear cataract
OMIM:601371	CRYBA2	1412	HP:0100018	Nuclear cataract
OMIM:601371	CRYBB1	1414	HP:0100018	Nuclear cataract
OMIM:601371	AGK	55750	HP:0100018	Nuclear cataract
OMIM:601371	CRYBB2	1415	HP:0100018	Nuclear cataract
OMIM:601371	CRYBB3	1417	HP:0100018	Nuclear cataract
OMIM:601371	WFS1	7466	HP:0100018	Nuclear cataract
OMIM:601371	NHS	4810	HP:0100018	Nuclear cataract
OMIM:601371	GJA3	2700	HP:0100018	Nuclear cataract
OMIM:601371	UNC45B	146862	HP:0100018	Nuclear cataract
OMIM:601371	CRYGD	1421	HP:0100018	Nuclear cataract
OMIM:601371	FYCO1	79443	HP:0100018	Nuclear cataract
OMIM:601371	BFSP1	631	HP:0100018	Nuclear cataract
OMIM:601371	GCNT2	2651	HP:0100018	Nuclear cataract
OMIM:601371	MIP	4284	HP:0100018	Nuclear cataract
ORPHANET:2343	ERF	2077	HP:0000348	High forehead
ORPHANET:2343	ERF	2077	HP:0002652	Skeletal dysplasia
ORPHANET:2343	ERF	2077	HP:0000444	Convex nasal ridge
ORPHANET:2343	ERF	2077	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2343	ERF	2077	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2343	ERF	2077	HP:0000272	Malar flattening
ORPHANET:2343	ERF	2077	HP:0006101	Finger syndactyly
ORPHANET:2343	ERF	2077	HP:0000520	Proptosis
ORPHANET:2343	ERF	2077	HP:0001363	Craniosynostosis
ORPHANET:2343	ERF	2077	HP:0001376	Limitation of joint mobility
ORPHANET:2343	ERF	2077	HP:0100543	Cognitive impairment
OMIM:601088	MAF	4094	HP:0000164	Abnormality of the teeth
OMIM:601088	MAF	4094	HP:0000248	Brachycephaly
OMIM:601088	MAF	4094	HP:0012385	Camptodactyly
OMIM:601088	MAF	4094	HP:0001250	Seizures
OMIM:601088	MAF	4094	HP:0000431	Wide nasal bridge
OMIM:601088	MAF	4094	HP:0000343	Long philtrum
OMIM:601088	MAF	4094	HP:0011800	Hypoplasia of midface
OMIM:601088	MAF	4094	HP:0000319	Smooth philtrum
OMIM:601088	MAF	4094	HP:0000272	Malar flattening
OMIM:601088	MAF	4094	HP:0007099	Arnold-Chiari type I malformation
OMIM:601088	MAF	4094	HP:0008404	Nail dystrophy
OMIM:601088	MAF	4094	HP:0005280	Depressed nasal bridge
OMIM:601088	MAF	4094	HP:0001156	Brachydactyly syndrome
OMIM:601088	MAF	4094	HP:0000407	Sensorineural hearing impairment
OMIM:601088	MAF	4094	HP:0000369	Low-set ears
OMIM:601088	MAF	4094	HP:0000508	Ptosis
OMIM:601088	MAF	4094	HP:0000348	High forehead
OMIM:601088	MAF	4094	HP:0002974	Radioulnar synostosis
OMIM:601088	MAF	4094	HP:0000316	Hypertelorism
OMIM:601088	MAF	4094	HP:0000160	Narrow mouth
OMIM:601088	MAF	4094	HP:0000270	Delayed cranial suture closure
OMIM:601088	MAF	4094	HP:0000519	Congenital cataract
OMIM:601088	MAF	4094	HP:0008551	Microtia
OMIM:601088	MAF	4094	HP:0003196	Short nose
OMIM:601088	MAF	4094	HP:0000219	Thin upper lip vermilion
OMIM:601088	MAF	4094	HP:0000582	Upslanted palpebral fissure
OMIM:601088	MAF	4094	HP:0002209	Sparse scalp hair
OMIM:601088	MAF	4094	HP:0012368	Flat face
OMIM:601088	MAF	4094	HP:0000289	Broad philtrum
OMIM:601088	MAF	4094	HP:0002059	Cerebral atrophy
OMIM:601088	MAF	4094	HP:0000303	Mandibular prognathia
OMIM:601088	MAF	4094	HP:0000358	Posteriorly rotated ears
OMIM:601088	MAF	4094	HP:0001182	Tapered finger
OMIM:601088	MAF	4094	HP:0000494	Downslanted palpebral fissures
OMIM:601088	MAF	4094	HP:0004322	Short stature
OMIM:601088	MAF	4094	HP:0001249	Intellectual disability
OMIM:601088	MAF	4094	HP:0011229	Broad eyebrow
OMIM:233670	CYBB	1536	HP:0005512	Impaired neutrophil killing of staphylococci
OMIM:233670	CYBB	1536	HP:0007499	Recurrent staphylococcal infections
OMIM:233670	CYBB	1536	HP:0000007	Autosomal recessive inheritance
OMIM:233670	NCF2	4688	HP:0005512	Impaired neutrophil killing of staphylococci
OMIM:233670	NCF2	4688	HP:0007499	Recurrent staphylococcal infections
OMIM:233670	NCF2	4688	HP:0000007	Autosomal recessive inheritance
OMIM:233670	NCF4	4689	HP:0005512	Impaired neutrophil killing of staphylococci
OMIM:233670	NCF4	4689	HP:0007499	Recurrent staphylococcal infections
OMIM:233670	NCF4	4689	HP:0000007	Autosomal recessive inheritance
OMIM:233670	NCF1	653361	HP:0005512	Impaired neutrophil killing of staphylococci
OMIM:233670	NCF1	653361	HP:0007499	Recurrent staphylococcal infections
OMIM:233670	NCF1	653361	HP:0000007	Autosomal recessive inheritance
OMIM:233670	CYBA	1535	HP:0005512	Impaired neutrophil killing of staphylococci
OMIM:233670	CYBA	1535	HP:0007499	Recurrent staphylococcal infections
OMIM:233670	CYBA	1535	HP:0000007	Autosomal recessive inheritance
OMIM:602588	EYA1	2138	HP:0000369	Low-set ears
OMIM:602588	EYA1	2138	HP:0003828	Variable expressivity
OMIM:602588	EYA1	2138	HP:0004467	Preauricular pit
OMIM:602588	EYA1	2138	HP:0003829	Incomplete penetrance
OMIM:602588	EYA1	2138	HP:0000006	Autosomal dominant inheritance
OMIM:602588	EYA1	2138	HP:0008554	Cochlear malformation
OMIM:602588	EYA1	2138	HP:0000378	Cupped ear
OMIM:602588	EYA1	2138	HP:0008551	Microtia
OMIM:602588	EYA1	2138	HP:0000278	Retrognathia
OMIM:602588	SIX1	6495	HP:0000369	Low-set ears
OMIM:602588	SIX1	6495	HP:0003828	Variable expressivity
OMIM:602588	SIX1	6495	HP:0004467	Preauricular pit
OMIM:602588	SIX1	6495	HP:0003829	Incomplete penetrance
OMIM:602588	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:602588	SIX1	6495	HP:0008554	Cochlear malformation
OMIM:602588	SIX1	6495	HP:0000378	Cupped ear
OMIM:602588	SIX1	6495	HP:0008551	Microtia
OMIM:602588	SIX1	6495	HP:0000278	Retrognathia
OMIM:251880	DGUOK	1716	HP:0001541	Ascites
OMIM:251880	DGUOK	1716	HP:0003128	Lactic acidosis
OMIM:251880	DGUOK	1716	HP:0000639	Nystagmus
OMIM:251880	DGUOK	1716	HP:0001271	Polyneuropathy
OMIM:251880	DGUOK	1716	HP:0001298	Encephalopathy
OMIM:251880	DGUOK	1716	HP:0008872	Feeding difficulties in infancy
OMIM:251880	DGUOK	1716	HP:0000252	Microcephaly
OMIM:251880	DGUOK	1716	HP:0000007	Autosomal recessive inheritance
OMIM:251880	DGUOK	1716	HP:0001873	Thrombocytopenia
OMIM:251880	DGUOK	1716	HP:0002013	Vomiting
OMIM:251880	DGUOK	1716	HP:0001404	Hepatocellular necrosis
OMIM:251880	DGUOK	1716	HP:0001943	Hypoglycemia
OMIM:251880	DGUOK	1716	HP:0001508	Failure to thrive
OMIM:251880	DGUOK	1716	HP:0002904	Hyperbilirubinemia
OMIM:251880	DGUOK	1716	HP:0003073	Hypoalbuminemia
OMIM:251880	DGUOK	1716	HP:0002240	Hepatomegaly
OMIM:251880	DGUOK	1716	HP:0002059	Cerebral atrophy
OMIM:251880	DGUOK	1716	HP:0000549	Abnormal conjugate eye movement
OMIM:251880	DGUOK	1716	HP:0001744	Splenomegaly
OMIM:251880	DGUOK	1716	HP:0001399	Hepatic failure
OMIM:251880	DGUOK	1716	HP:0002910	Elevated hepatic transaminases
OMIM:251880	DGUOK	1716	HP:0001250	Seizures
OMIM:251880	DGUOK	1716	HP:0001510	Growth delay
OMIM:251880	DGUOK	1716	HP:0001409	Portal hypertension
OMIM:251880	DGUOK	1716	HP:0000952	Jaundice
OMIM:251880	DGUOK	1716	HP:0001252	Muscular hypotonia
OMIM:251880	DGUOK	1716	HP:0001347	Hyperreflexia
OMIM:251880	DGUOK	1716	HP:0001397	Hepatic steatosis
OMIM:614482	SLC33A1	9197	HP:0000519	Congenital cataract
OMIM:614482	SLC33A1	9197	HP:0000007	Autosomal recessive inheritance
OMIM:614482	SLC33A1	9197	HP:0002059	Cerebral atrophy
OMIM:614482	SLC33A1	9197	HP:0001250	Seizures
OMIM:614482	SLC33A1	9197	HP:0001263	Global developmental delay
OMIM:614482	SLC33A1	9197	HP:0001252	Muscular hypotonia
OMIM:614482	SLC33A1	9197	HP:0003429	CNS hypomyelination
OMIM:614482	SLC33A1	9197	HP:0003676	Progressive
OMIM:614482	SLC33A1	9197	HP:0003593	Infantile onset
OMIM:614482	SLC33A1	9197	HP:0001272	Cerebellar atrophy
OMIM:614482	SLC33A1	9197	HP:0001344	Absent speech
OMIM:614482	SLC33A1	9197	HP:0000365	Hearing impairment
OMIM:614482	SLC33A1	9197	HP:0000639	Nystagmus
OMIM:159050	DMD	1756	HP:0001324	Muscle weakness
OMIM:159050	DMD	1756	HP:0003560	Muscular dystrophy
OMIM:159050	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:235200	HFE	3077	HP:0001640	Cardiomegaly
OMIM:235200	HFE	3077	HP:0000819	Diabetes mellitus
OMIM:235200	HFE	3077	HP:0001638	Cardiomyopathy
OMIM:235200	HFE	3077	HP:0000141	Amenorrhea
OMIM:235200	HFE	3077	HP:0001596	Alopecia
OMIM:235200	HFE	3077	HP:0001009	Telangiectasia
OMIM:235200	HFE	3077	HP:0002910	Elevated hepatic transaminases
OMIM:235200	HFE	3077	HP:0002240	Hepatomegaly
OMIM:235200	HFE	3077	HP:0001952	Abnormal glucose tolerance
OMIM:235200	HFE	3077	HP:0001394	Cirrhosis
OMIM:235200	HFE	3077	HP:0000027	Azoospermia
OMIM:235200	HFE	3077	HP:0001744	Splenomegaly
OMIM:235200	HFE	3077	HP:0000007	Autosomal recessive inheritance
OMIM:235200	HFE	3077	HP:0000953	Hyperpigmentation of the skin
OMIM:235200	HFE	3077	HP:0001541	Ascites
OMIM:235200	HFE	3077	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:235200	HFE	3077	HP:0000939	Osteoporosis
OMIM:235200	HFE	3077	HP:0011675	Arrhythmia
OMIM:235200	HFE	3077	HP:0001635	Congestive heart failure
OMIM:150250	FLNB	2317	HP:0000175	Cleft palate
OMIM:150250	FLNB	2317	HP:0001798	Anonychia
OMIM:150250	FLNB	2317	HP:0002780	Bronchomalacia
OMIM:150250	FLNB	2317	HP:0001382	Joint hypermobility
OMIM:150250	FLNB	2317	HP:0000767	Pectus excavatum
OMIM:150250	FLNB	2317	HP:0002650	Scoliosis
OMIM:150250	FLNB	2317	HP:0000316	Hypertelorism
OMIM:150250	FLNB	2317	HP:0001601	Laryngomalacia
OMIM:150250	FLNB	2317	HP:0005280	Depressed nasal bridge
OMIM:150250	FLNB	2317	HP:0006101	Finger syndactyly
OMIM:150250	FLNB	2317	HP:0005930	Abnormality of epiphysis morphology
OMIM:150250	FLNB	2317	HP:0000405	Conductive hearing impairment
OMIM:150250	FLNB	2317	HP:0000272	Malar flattening
OMIM:150250	FLNB	2317	HP:0003422	Vertebral segmentation defect
OMIM:150250	FLNB	2317	HP:0001762	Talipes equinovarus
OMIM:150250	FLNB	2317	HP:0002093	Respiratory insufficiency
OMIM:150250	FLNB	2317	HP:0000028	Cryptorchidism
OMIM:150250	FLNB	2317	HP:0010049	Short metacarpal
OMIM:150250	FLNB	2317	HP:0002779	Tracheomalacia
OMIM:150250	FLNB	2317	HP:0003042	Elbow dislocation
OMIM:150250	FLNB	2317	HP:0012368	Flat face
OMIM:150250	FLNB	2317	HP:0003298	Spina bifida occulta
OMIM:150250	FLNB	2317	HP:0002777	Tracheal stenosis
OMIM:150250	FLNB	2317	HP:0001363	Craniosynostosis
OMIM:150250	FLNB	2317	HP:0002827	Hip dislocation
OMIM:150250	FLNB	2317	HP:0001166	Arachnodactyly
OMIM:150250	FLNB	2317	HP:0000768	Pectus carinatum
OMIM:150250	FLNB	2317	HP:0004322	Short stature
OMIM:150250	FLNB	2317	HP:0010743	Short metatarsal
OMIM:150250	FLNB	2317	HP:0001631	Atria septal defect
OMIM:150250	FLNB	2317	HP:0000204	Cleft upper lip
OMIM:150250	FLNB	2317	HP:0000006	Autosomal dominant inheritance
OMIM:150250	FLNB	2317	HP:0001724	Aortic dilatation
OMIM:150250	FLNB	2317	HP:0002007	Frontal bossing
OMIM:150250	FLNB	2317	HP:0000668	Hypodontia
OMIM:150250	FLNB	2317	HP:0009602	Abnormality of thumb phalanx
OMIM:150250	FLNB	2317	HP:0001626	Abnormality of the cardiovascular system
OMIM:150250	FLNB	2317	HP:0100543	Cognitive impairment
OMIM:150250	FLNB	2317	HP:0007957	Corneal opacity
OMIM:150250	FLNB	2317	HP:0001388	Joint laxity
OMIM:150250	FLNB	2317	HP:0001799	Short nail
OMIM:150250	FLNB	2317	HP:0003019	Abnormality of the wrist
OMIM:150250	FLNB	2317	HP:0001511	Intrauterine growth retardation
OMIM:150250	FLNB	2317	HP:0001249	Intellectual disability
OMIM:150250	FLNB	2317	HP:0011220	Prominent forehead
OMIM:150250	FLNB	2317	HP:0001156	Brachydactyly syndrome
OMIM:150250	FLNB	2317	HP:0001629	Ventricular septal defect
OMIM:150250	FLNB	2317	HP:0002176	Spinal cord compression
OMIM:612840	FERMT3	83706	HP:0002718	Recurrent bacterial infections
OMIM:612840	FERMT3	83706	HP:0003593	Infantile onset
OMIM:612840	FERMT3	83706	HP:0000007	Autosomal recessive inheritance
OMIM:612840	FERMT3	83706	HP:0000967	Petechiae
OMIM:612840	FERMT3	83706	HP:0002240	Hepatomegaly
OMIM:612840	FERMT3	83706	HP:0000421	Epistaxis
OMIM:612840	FERMT3	83706	HP:0001744	Splenomegaly
OMIM:612840	FERMT3	83706	HP:0001903	Anemia
OMIM:612840	FERMT3	83706	HP:0001974	Leukocytosis
OMIM:217095	GDF1	2657	HP:0001669	Transposition of the great arteries
OMIM:217095	GDF1	2657	HP:0001660	Truncus arteriosus
OMIM:217095	GDF1	2657	HP:0100259	Postaxial polydactyly
OMIM:217095	GDF1	2657	HP:0010055	Broad hallux
OMIM:217095	GDF1	2657	HP:0001643	Patent ductus arteriosus
OMIM:217095	GDF1	2657	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	GDF1	2657	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	GDF1	2657	HP:0000007	Autosomal recessive inheritance
OMIM:217095	GDF1	2657	HP:0004414	Abnormality of the pulmonary artery
OMIM:217095	GDF1	2657	HP:0000316	Hypertelorism
OMIM:217095	GDF1	2657	HP:0001636	Tetralogy of Fallot
OMIM:217095	GDF1	2657	HP:0001719	Double outlet right ventricle
OMIM:217095	GDF1	2657	HP:0001679	Abnormality of the aorta
OMIM:217095	GDF1	2657	HP:0001680	Coarctation of aorta
OMIM:217095	GATA6	2627	HP:0001669	Transposition of the great arteries
OMIM:217095	GATA6	2627	HP:0001660	Truncus arteriosus
OMIM:217095	GATA6	2627	HP:0100259	Postaxial polydactyly
OMIM:217095	GATA6	2627	HP:0010055	Broad hallux
OMIM:217095	GATA6	2627	HP:0001643	Patent ductus arteriosus
OMIM:217095	GATA6	2627	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	GATA6	2627	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	GATA6	2627	HP:0000007	Autosomal recessive inheritance
OMIM:217095	GATA6	2627	HP:0004414	Abnormality of the pulmonary artery
OMIM:217095	GATA6	2627	HP:0000316	Hypertelorism
OMIM:217095	GATA6	2627	HP:0001636	Tetralogy of Fallot
OMIM:217095	GATA6	2627	HP:0001719	Double outlet right ventricle
OMIM:217095	GATA6	2627	HP:0001679	Abnormality of the aorta
OMIM:217095	GATA6	2627	HP:0001680	Coarctation of aorta
OMIM:217095	TBX1	6899	HP:0001669	Transposition of the great arteries
OMIM:217095	TBX1	6899	HP:0001660	Truncus arteriosus
OMIM:217095	TBX1	6899	HP:0100259	Postaxial polydactyly
OMIM:217095	TBX1	6899	HP:0010055	Broad hallux
OMIM:217095	TBX1	6899	HP:0001643	Patent ductus arteriosus
OMIM:217095	TBX1	6899	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	TBX1	6899	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	TBX1	6899	HP:0000007	Autosomal recessive inheritance
OMIM:217095	TBX1	6899	HP:0004414	Abnormality of the pulmonary artery
OMIM:217095	TBX1	6899	HP:0000316	Hypertelorism
OMIM:217095	TBX1	6899	HP:0001636	Tetralogy of Fallot
OMIM:217095	TBX1	6899	HP:0001719	Double outlet right ventricle
OMIM:217095	TBX1	6899	HP:0001679	Abnormality of the aorta
OMIM:217095	TBX1	6899	HP:0001680	Coarctation of aorta
OMIM:217095	NKX2-6	137814	HP:0001669	Transposition of the great arteries
OMIM:217095	NKX2-6	137814	HP:0001660	Truncus arteriosus
OMIM:217095	NKX2-6	137814	HP:0100259	Postaxial polydactyly
OMIM:217095	NKX2-6	137814	HP:0010055	Broad hallux
OMIM:217095	NKX2-6	137814	HP:0001643	Patent ductus arteriosus
OMIM:217095	NKX2-6	137814	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	NKX2-6	137814	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	NKX2-6	137814	HP:0000007	Autosomal recessive inheritance
OMIM:217095	NKX2-6	137814	HP:0004414	Abnormality of the pulmonary artery
OMIM:217095	NKX2-6	137814	HP:0000316	Hypertelorism
OMIM:217095	NKX2-6	137814	HP:0001636	Tetralogy of Fallot
OMIM:217095	NKX2-6	137814	HP:0001719	Double outlet right ventricle
OMIM:217095	NKX2-6	137814	HP:0001679	Abnormality of the aorta
OMIM:217095	NKX2-6	137814	HP:0001680	Coarctation of aorta
OMIM:217095	PLXND1	23129	HP:0001669	Transposition of the great arteries
OMIM:217095	PLXND1	23129	HP:0001660	Truncus arteriosus
OMIM:217095	PLXND1	23129	HP:0100259	Postaxial polydactyly
OMIM:217095	PLXND1	23129	HP:0010055	Broad hallux
OMIM:217095	PLXND1	23129	HP:0001643	Patent ductus arteriosus
OMIM:217095	PLXND1	23129	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	PLXND1	23129	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	PLXND1	23129	HP:0000007	Autosomal recessive inheritance
OMIM:217095	PLXND1	23129	HP:0004414	Abnormality of the pulmonary artery
OMIM:217095	PLXND1	23129	HP:0000316	Hypertelorism
OMIM:217095	PLXND1	23129	HP:0001636	Tetralogy of Fallot
OMIM:217095	PLXND1	23129	HP:0001719	Double outlet right ventricle
OMIM:217095	PLXND1	23129	HP:0001679	Abnormality of the aorta
OMIM:217095	PLXND1	23129	HP:0001680	Coarctation of aorta
OMIM:217095	NKX2-5	1482	HP:0001669	Transposition of the great arteries
OMIM:217095	NKX2-5	1482	HP:0001660	Truncus arteriosus
OMIM:217095	NKX2-5	1482	HP:0100259	Postaxial polydactyly
OMIM:217095	NKX2-5	1482	HP:0010055	Broad hallux
OMIM:217095	NKX2-5	1482	HP:0001643	Patent ductus arteriosus
OMIM:217095	NKX2-5	1482	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	NKX2-5	1482	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	NKX2-5	1482	HP:0000007	Autosomal recessive inheritance
OMIM:217095	NKX2-5	1482	HP:0004414	Abnormality of the pulmonary artery
OMIM:217095	NKX2-5	1482	HP:0000316	Hypertelorism
OMIM:217095	NKX2-5	1482	HP:0001636	Tetralogy of Fallot
OMIM:217095	NKX2-5	1482	HP:0001719	Double outlet right ventricle
OMIM:217095	NKX2-5	1482	HP:0001679	Abnormality of the aorta
OMIM:217095	NKX2-5	1482	HP:0001680	Coarctation of aorta
OMIM:217095	CFC1	55997	HP:0001669	Transposition of the great arteries
OMIM:217095	CFC1	55997	HP:0001660	Truncus arteriosus
OMIM:217095	CFC1	55997	HP:0100259	Postaxial polydactyly
OMIM:217095	CFC1	55997	HP:0010055	Broad hallux
OMIM:217095	CFC1	55997	HP:0001643	Patent ductus arteriosus
OMIM:217095	CFC1	55997	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	CFC1	55997	HP:0001674	Complete atrioventricular canal defect
OMIM:217095	CFC1	55997	HP:0000007	Autosomal recessive inheritance
OMIM:217095	CFC1	55997	HP:0004414	Abnormality of the pulmonary artery
OMIM:217095	CFC1	55997	HP:0000316	Hypertelorism
OMIM:217095	CFC1	55997	HP:0001636	Tetralogy of Fallot
OMIM:217095	CFC1	55997	HP:0001719	Double outlet right ventricle
OMIM:217095	CFC1	55997	HP:0001679	Abnormality of the aorta
OMIM:217095	CFC1	55997	HP:0001680	Coarctation of aorta
OMIM:616371	FAM13A	10144	HP:0002216	Premature graying of hair
OMIM:616371	FAM13A	10144	HP:0002206	Pulmonary fibrosis
OMIM:616371	TERC	7012	HP:0002216	Premature graying of hair
OMIM:616371	TERC	7012	HP:0002206	Pulmonary fibrosis
OMIM:616371	RTEL1	51750	HP:0002216	Premature graying of hair
OMIM:616371	RTEL1	51750	HP:0002206	Pulmonary fibrosis
OMIM:616371	TERT	7015	HP:0002216	Premature graying of hair
OMIM:616371	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:616371	SFTPC	6440	HP:0002216	Premature graying of hair
OMIM:616371	SFTPC	6440	HP:0002206	Pulmonary fibrosis
OMIM:616371	DSP	1832	HP:0002216	Premature graying of hair
OMIM:616371	DSP	1832	HP:0002206	Pulmonary fibrosis
OMIM:616371	SFTPA1	653509	HP:0002216	Premature graying of hair
OMIM:616371	SFTPA1	653509	HP:0002206	Pulmonary fibrosis
OMIM:616371	PARN	5073	HP:0002216	Premature graying of hair
OMIM:616371	PARN	5073	HP:0002206	Pulmonary fibrosis
OMIM:616371	MUC5B	727897	HP:0002216	Premature graying of hair
OMIM:616371	MUC5B	727897	HP:0002206	Pulmonary fibrosis
OMIM:616371	ATP11A	23250	HP:0002216	Premature graying of hair
OMIM:616371	ATP11A	23250	HP:0002206	Pulmonary fibrosis
OMIM:616371	OBFC1	79991	HP:0002216	Premature graying of hair
OMIM:616371	OBFC1	79991	HP:0002206	Pulmonary fibrosis
OMIM:616371	SFTPA2	729238	HP:0002216	Premature graying of hair
OMIM:616371	SFTPA2	729238	HP:0002206	Pulmonary fibrosis
OMIM:616371	DPP9	91039	HP:0002216	Premature graying of hair
OMIM:616371	DPP9	91039	HP:0002206	Pulmonary fibrosis
OMIM:262400	GH1	2688	HP:0002715	Abnormality of the immune system
OMIM:262400	GH1	2688	HP:0000007	Autosomal recessive inheritance
OMIM:262400	GH1	2688	HP:0001943	Hypoglycemia
OMIM:262400	GH1	2688	HP:0000271	Abnormality of the face
OMIM:262400	GH1	2688	HP:0003510	Severe short stature
OMIM:605027	RAD54L	8438	HP:0002665	Lymphoma
OMIM:605027	CASP10	843	HP:0002665	Lymphoma
OMIM:605027	RAD54B	25788	HP:0002665	Lymphoma
OMIM:605027	PRF1	5551	HP:0002665	Lymphoma
ORPHANET:2024	SOS1	6654	HP:0000212	Gingival overgrowth
OMIM:607864	AXIN1	8312	HP:0003422	Vertebral segmentation defect
OMIM:607864	AXIN1	8312	HP:0008678	Renal hypoplasia/aplasia
OMIM:607864	AXIN1	8312	HP:0000073	Ureteral duplication
OMIM:607864	AXIN1	8312	HP:0100589	Urogenital fistula
OMIM:607864	AXIN1	8312	HP:0001539	Omphalocele
OMIM:607864	AXIN1	8312	HP:0000028	Cryptorchidism
OMIM:607864	AXIN1	8312	HP:0000036	Abnormality of the penis
OMIM:607864	AXIN1	8312	HP:0005107	Abnormality of the sacrum
OMIM:114290	SOX9	6662	HP:0001252	Muscular hypotonia
OMIM:114290	SOX9	6662	HP:0002786	Tracheobronchomalacia
OMIM:114290	SOX9	6662	HP:0002098	Respiratory distress
OMIM:114290	SOX9	6662	HP:0008873	Disproportionate short-limb short stature
OMIM:114290	SOX9	6662	HP:0000006	Autosomal dominant inheritance
OMIM:114290	SOX9	6662	HP:0000878	11 pairs of ribs
OMIM:114290	SOX9	6662	HP:0000316	Hypertelorism
OMIM:114290	SOX9	6662	HP:0000348	High forehead
OMIM:114290	SOX9	6662	HP:0001508	Failure to thrive
OMIM:114290	SOX9	6662	HP:0002827	Hip dislocation
OMIM:114290	SOX9	6662	HP:0001762	Talipes equinovarus
OMIM:114290	SOX9	6662	HP:0000581	Blepharophimosis
OMIM:114290	SOX9	6662	HP:0002104	Apnea
OMIM:114290	SOX9	6662	HP:0000347	Micrognathia
OMIM:114290	SOX9	6662	HP:0002751	Kyphoscoliosis
OMIM:114290	SOX9	6662	HP:0000457	Depressed nasal ridge
OMIM:114290	SOX9	6662	HP:0002980	Femoral bowing
OMIM:114290	SOX9	6662	HP:0000238	Hydrocephalus
OMIM:114290	SOX9	6662	HP:0000175	Cleft palate
OMIM:114290	SOX9	6662	HP:0000369	Low-set ears
OMIM:114290	SOX9	6662	HP:0000365	Hearing impairment
OMIM:114290	SOX9	6662	HP:0003038	Fibular hypoplasia
OMIM:114290	SOX9	6662	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:114290	SOX9	6662	HP:0001561	Polyhydramnios
OMIM:114290	SOX9	6662	HP:0005257	Thoracic hypoplasia
OMIM:114290	SOX9	6662	HP:0000256	Macrocephaly
OMIM:114290	SOX9	6662	HP:0012745	Short palpebral fissure
OMIM:114290	SOX9	6662	HP:0000882	Hypoplastic scapulae
OMIM:114290	SOX9	6662	HP:0005280	Depressed nasal bridge
OMIM:114290	SOX9	6662	HP:0000274	Small face
OMIM:114290	SOX9	6662	HP:0000126	Hydronephrosis
OMIM:114290	SOX9	6662	HP:0012245	Sex reversal
OMIM:262600	GLI2	2736	HP:0000007	Autosomal recessive inheritance
OMIM:262600	GLI2	2736	HP:0004322	Short stature
OMIM:262600	GLI2	2736	HP:0000821	Hypothyroidism
OMIM:262600	GLI2	2736	HP:0000135	Hypogonadism
OMIM:262600	GLI2	2736	HP:0000846	Adrenal insufficiency
OMIM:262600	SOX3	6658	HP:0000007	Autosomal recessive inheritance
OMIM:262600	SOX3	6658	HP:0004322	Short stature
OMIM:262600	SOX3	6658	HP:0000821	Hypothyroidism
OMIM:262600	SOX3	6658	HP:0000135	Hypogonadism
OMIM:262600	SOX3	6658	HP:0000846	Adrenal insufficiency
OMIM:262600	HESX1	8820	HP:0000007	Autosomal recessive inheritance
OMIM:262600	HESX1	8820	HP:0004322	Short stature
OMIM:262600	HESX1	8820	HP:0000821	Hypothyroidism
OMIM:262600	HESX1	8820	HP:0000135	Hypogonadism
OMIM:262600	HESX1	8820	HP:0000846	Adrenal insufficiency
OMIM:262600	OTX2	5015	HP:0000007	Autosomal recessive inheritance
OMIM:262600	OTX2	5015	HP:0004322	Short stature
OMIM:262600	OTX2	5015	HP:0000821	Hypothyroidism
OMIM:262600	OTX2	5015	HP:0000135	Hypogonadism
OMIM:262600	OTX2	5015	HP:0000846	Adrenal insufficiency
OMIM:262600	POU1F1	5449	HP:0000007	Autosomal recessive inheritance
OMIM:262600	POU1F1	5449	HP:0004322	Short stature
OMIM:262600	POU1F1	5449	HP:0000821	Hypothyroidism
OMIM:262600	POU1F1	5449	HP:0000135	Hypogonadism
OMIM:262600	POU1F1	5449	HP:0000846	Adrenal insufficiency
OMIM:262600	PROP1	5626	HP:0000007	Autosomal recessive inheritance
OMIM:262600	PROP1	5626	HP:0004322	Short stature
OMIM:262600	PROP1	5626	HP:0000821	Hypothyroidism
OMIM:262600	PROP1	5626	HP:0000135	Hypogonadism
OMIM:262600	PROP1	5626	HP:0000846	Adrenal insufficiency
OMIM:262600	LHX4	89884	HP:0000007	Autosomal recessive inheritance
OMIM:262600	LHX4	89884	HP:0004322	Short stature
OMIM:262600	LHX4	89884	HP:0000821	Hypothyroidism
OMIM:262600	LHX4	89884	HP:0000135	Hypogonadism
OMIM:262600	LHX4	89884	HP:0000846	Adrenal insufficiency
OMIM:606762	GLUD1	2746	HP:0001249	Intellectual disability
OMIM:606762	GLUD1	2746	HP:0000006	Autosomal dominant inheritance
OMIM:612165	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:612165	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:612165	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:612165	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:612165	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:612165	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:612165	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:612165	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:612165	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:612165	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:612165	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:612165	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:612165	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:612165	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:612165	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:612165	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:612165	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:612165	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:612165	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:612165	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:612165	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:612165	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:612165	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:612165	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:612165	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:612165	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:612165	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:612165	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:612165	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:612165	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:612165	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:612165	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:612165	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:612165	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:612165	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:612165	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:612165	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:612165	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:612165	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:612165	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:612165	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:612165	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:612165	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:612165	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:612165	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:612165	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:612165	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:612165	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:612165	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:612165	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:612165	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:612165	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:612165	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:612165	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:612165	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:612165	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:612165	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:612165	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:612165	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:612165	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:612165	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:612165	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:612165	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:612165	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:612165	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:612165	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:612165	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:612165	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:612165	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:612165	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:612165	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:612165	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:612165	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:612165	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:612165	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:612165	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:612165	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:612165	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:612165	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:612165	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:612165	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:612165	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:612165	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:612165	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:612165	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:612165	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:612165	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:612165	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:612165	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:612165	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:612165	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:612165	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:612165	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:612165	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:612165	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:612165	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:612165	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:612165	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:612165	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:612165	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:612165	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:612165	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:612165	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:612165	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:612165	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:612165	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:612165	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:612165	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:612165	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:612165	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:612165	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:612165	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:612165	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:612165	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:612165	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:612165	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:612165	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:612165	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:612165	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:612165	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:612165	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:612165	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:612165	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:612165	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:612165	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:612165	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:612165	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:612165	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:612165	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:612165	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:612165	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:612165	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:612165	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:612165	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:612165	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:612165	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:612165	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:612165	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:612165	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:126800	CHN1	1123	HP:0000006	Autosomal dominant inheritance
OMIM:126800	CHN1	1123	HP:0000542	Impaired ocular adduction
OMIM:126800	CHN1	1123	HP:0000619	Impaired convergence
OMIM:126800	CHN1	1123	HP:0009921	Duane anomaly
OMIM:126800	CHN1	1123	HP:0000487	Congenital strabismus
OMIM:126800	CHN1	1123	HP:0000634	Impaired ocular abduction
OMIM:126800	CHN1	1123	HP:0000661	Palpebral fissure narrowing on adduction
OMIM:489500	XGR	7501	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:489500	XGR	7501	HP:0002664	Neoplasm
OMIM:615861	EMP2	2013	HP:0001004	Lymphedema
OMIM:615861	EMP2	2013	HP:0000100	Nephrotic syndrome
OMIM:608415	RGS9	8787	HP:0000505	Visual impairment
OMIM:608415	RGS9	8787	HP:0000613	Photophobia
OMIM:608415	RGS9BP	388531	HP:0000505	Visual impairment
OMIM:608415	RGS9BP	388531	HP:0000613	Photophobia
OMIM:607936	CSTA	1475	HP:0008064	Ichthyosis
OMIM:607936	CSTA	1475	HP:0000007	Autosomal recessive inheritance
OMIM:607936	CSTA	1475	HP:0000982	Palmoplantar keratoderma
OMIM:604360	SPG11	80208	HP:0000608	Macular degeneration
OMIM:604360	SPG11	80208	HP:0001249	Intellectual disability
OMIM:604360	SPG11	80208	HP:0001315	Reduced tendon reflexes
OMIM:604360	SPG11	80208	HP:0030051	Tip-toe gait
OMIM:604360	SPG11	80208	HP:0001258	Spastic paraplegia
OMIM:604360	SPG11	80208	HP:0002119	Ventriculomegaly
OMIM:604360	SPG11	80208	HP:0011463	Childhood onset
OMIM:604360	SPG11	80208	HP:0002015	Dysphagia
OMIM:604360	SPG11	80208	HP:0002120	Cerebral cortical atrophy
OMIM:604360	SPG11	80208	HP:0011449	Knee clonus
OMIM:604360	SPG11	80208	HP:0003393	Thenar muscle atrophy
OMIM:604360	SPG11	80208	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:604360	SPG11	80208	HP:0003581	Adult onset
OMIM:604360	SPG11	80208	HP:0001268	Mental deterioration
OMIM:604360	SPG11	80208	HP:0001274	Agenesis of corpus callosum
OMIM:604360	SPG11	80208	HP:0001761	Pes cavus
OMIM:604360	SPG11	80208	HP:0007178	Motor polyneuropathy
OMIM:604360	SPG11	80208	HP:0001250	Seizures
OMIM:604360	SPG11	80208	HP:0007340	Lower limb muscle weakness
OMIM:604360	SPG11	80208	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:604360	SPG11	80208	HP:0000640	Gaze-evoked nystagmus
OMIM:604360	SPG11	80208	HP:0002061	Lower limb spasticity
OMIM:604360	SPG11	80208	HP:0000020	Urinary incontinence
OMIM:604360	SPG11	80208	HP:0000763	Sensory neuropathy
OMIM:604360	SPG11	80208	HP:0000505	Visual impairment
OMIM:604360	SPG11	80208	HP:0001260	Dysarthria
OMIM:604360	SPG11	80208	HP:0001251	Ataxia
OMIM:604360	SPG11	80208	HP:0002311	Incoordination
OMIM:604360	SPG11	80208	HP:0000546	Retinal degeneration
OMIM:604360	SPG11	80208	HP:0002167	Neurological speech impairment
OMIM:604360	SPG11	80208	HP:0001328	Specific learning disability
OMIM:604360	SPG11	80208	HP:0003487	Babinski sign
OMIM:604360	SPG11	80208	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:604360	SPG11	80208	HP:0000007	Autosomal recessive inheritance
OMIM:604360	SPG11	80208	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604360	SPG11	80208	HP:0002518	Abnormality of the periventricular white matter
OMIM:604360	SPG11	80208	HP:0003676	Progressive
OMIM:604360	SPG11	80208	HP:0011448	Ankle clonus
OMIM:604360	SPG11	80208	HP:0000012	Urinary urgency
OMIM:604360	SPG11	80208	HP:0007067	Distal peripheral sensory neuropathy
OMIM:604360	SPG11	80208	HP:0001513	Obesity
OMIM:604360	SPG11	80208	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:604360	SPG11	80208	HP:0001347	Hyperreflexia
OMIM:604360	SPG11	80208	HP:0002064	Spastic gait
OMIM:604360	SPG11	80208	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:604360	SPG11	80208	HP:0001288	Gait disturbance
OMIM:119300	IRF6	3664	HP:0000193	Bifid uvula
OMIM:119300	IRF6	3664	HP:0000668	Hypodontia
OMIM:119300	IRF6	3664	HP:0000006	Autosomal dominant inheritance
OMIM:119300	IRF6	3664	HP:0000204	Cleft upper lip
OMIM:119300	IRF6	3664	HP:0000175	Cleft palate
OMIM:119300	GRHL3	57822	HP:0000193	Bifid uvula
OMIM:119300	GRHL3	57822	HP:0000668	Hypodontia
OMIM:119300	GRHL3	57822	HP:0000006	Autosomal dominant inheritance
OMIM:119300	GRHL3	57822	HP:0000204	Cleft upper lip
OMIM:119300	GRHL3	57822	HP:0000175	Cleft palate
OMIM:615553	SLC35A3	23443	HP:0000007	Autosomal recessive inheritance
OMIM:615553	SLC35A3	23443	HP:0001249	Intellectual disability
OMIM:615553	SLC35A3	23443	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615553	SLC35A3	23443	HP:0000729	Autistic behavior
OMIM:615553	SLC35A3	23443	HP:0001252	Muscular hypotonia
OMIM:615553	SLC35A3	23443	HP:0000252	Microcephaly
OMIM:615553	SLC35A3	23443	HP:0001250	Seizures
OMIM:615553	SLC35A3	23443	HP:0002827	Hip dislocation
OMIM:615553	SLC35A3	23443	HP:0001263	Global developmental delay
OMIM:615553	SLC35A3	23443	HP:0100490	Camptodactyly of finger
OMIM:615553	SLC35A3	23443	HP:0000308	Microretrognathia
OMIM:300555	OCRL	4952	HP:0012622	Chronic kidney disease
OMIM:300555	OCRL	4952	HP:0000121	Nephrocalcinosis
OMIM:300555	OCRL	4952	HP:0001263	Global developmental delay
OMIM:300555	OCRL	4952	HP:0004322	Short stature
OMIM:300555	OCRL	4952	HP:0001537	Umbilical hernia
OMIM:300555	OCRL	4952	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300555	OCRL	4952	HP:0003355	Aminoaciduria
OMIM:300555	OCRL	4952	HP:0001419	X-linked recessive inheritance
OMIM:300555	OCRL	4952	HP:0100543	Cognitive impairment
OMIM:300555	OCRL	4952	HP:0002150	Hypercalciuria
OMIM:300555	OCRL	4952	HP:0011463	Childhood onset
OMIM:604432	TTBK2	146057	HP:0001272	Cerebellar atrophy
OMIM:604432	TTBK2	146057	HP:0003581	Adult onset
OMIM:604432	TTBK2	146057	HP:0001260	Dysarthria
OMIM:604432	TTBK2	146057	HP:0000006	Autosomal dominant inheritance
OMIM:604432	TTBK2	146057	HP:0000639	Nystagmus
OMIM:604432	TTBK2	146057	HP:0001347	Hyperreflexia
OMIM:615523	COL8A2	1296	HP:0000006	Autosomal dominant inheritance
OMIM:615523	COL8A2	1296	HP:0001131	Corneal dystrophy
OMIM:615523	SLC4A11	83959	HP:0000006	Autosomal dominant inheritance
OMIM:615523	SLC4A11	83959	HP:0001131	Corneal dystrophy
OMIM:615523	ZEB1	6935	HP:0000006	Autosomal dominant inheritance
OMIM:615523	ZEB1	6935	HP:0001131	Corneal dystrophy
OMIM:615523	AGBL1	123624	HP:0000006	Autosomal dominant inheritance
OMIM:615523	AGBL1	123624	HP:0001131	Corneal dystrophy
OMIM:615523	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:615523	TCF4	6925	HP:0001131	Corneal dystrophy
OMIM:615156	DNA2	1763	HP:0003394	Muscle cramps
OMIM:615156	DNA2	1763	HP:0003391	Gowers sign
OMIM:615156	DNA2	1763	HP:0001288	Gait disturbance
OMIM:615156	DNA2	1763	HP:0003325	Limb-girdle muscle weakness
OMIM:615156	DNA2	1763	HP:0003326	Myalgia
OMIM:615156	DNA2	1763	HP:0000006	Autosomal dominant inheritance
OMIM:615156	DNA2	1763	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615156	DNA2	1763	HP:0003677	Slow progression
OMIM:615156	DNA2	1763	HP:0000508	Ptosis
OMIM:615156	DNA2	1763	HP:0003546	Exercise intolerance
OMIM:615156	DNA2	1763	HP:0010628	Facial palsy
OMIM:300263	PHF8	23133	HP:0000366	Abnormality of the nose
OMIM:300263	PHF8	23133	HP:0100335	Non-midline cleft lip
OMIM:300263	PHF8	23133	HP:0001177	Preaxial hand polydactyly
OMIM:300263	PHF8	23133	HP:0001176	Large hands
OMIM:300263	PHF8	23133	HP:0100543	Cognitive impairment
OMIM:300263	PHF8	23133	HP:0002162	Low posterior hairline
OMIM:300263	PHF8	23133	HP:0000028	Cryptorchidism
OMIM:300263	PHF8	23133	HP:0000175	Cleft palate
OMIM:300263	PHF8	23133	HP:0000276	Long face
OMIM:300263	PHF8	23133	HP:0001249	Intellectual disability
OMIM:300263	PHF8	23133	HP:0002650	Scoliosis
OMIM:300263	PHF8	23133	HP:0000664	Synophrys
OMIM:170995	ABCD3	5825	HP:0000272	Malar flattening
OMIM:170995	ABCD3	5825	HP:0001252	Muscular hypotonia
OMIM:170995	ABCD3	5825	HP:0000057	Clitoromegaly
OMIM:170995	ABCD3	5825	HP:0001840	Metatarsus adductus
OMIM:170995	ABCD3	5825	HP:0004734	Renal cortical microcysts
OMIM:170995	ABCD3	5825	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:170995	ABCD3	5825	HP:0001284	Areflexia
OMIM:170995	ABCD3	5825	HP:0001249	Intellectual disability
OMIM:170995	ABCD3	5825	HP:0000778	Hypoplasia of the thymus
OMIM:170995	ABCD3	5825	HP:0000311	Round face
OMIM:170995	ABCD3	5825	HP:0001250	Seizures
OMIM:170995	ABCD3	5825	HP:0001433	Hepatosplenomegaly
OMIM:170995	ABCD3	5825	HP:0002033	Poor suck
OMIM:170995	ABCD3	5825	HP:0000952	Jaundice
OMIM:170995	ABCD3	5825	HP:0003819	Death in childhood
OMIM:170995	ABCD3	5825	HP:0000369	Low-set ears
OMIM:170995	ABCD3	5825	HP:0002104	Apnea
OMIM:170995	ABCD3	5825	HP:0009473	Joint contracture of the hand
OMIM:170995	ABCD3	5825	HP:0000316	Hypertelorism
OMIM:170995	ABCD3	5825	HP:0000286	Epicanthus
OMIM:170995	ABCD3	5825	HP:0000518	Cataract
OMIM:170995	ABCD3	5825	HP:0007759	Opacification of the corneal stroma
OMIM:170995	ABCD3	5825	HP:0002240	Hepatomegaly
OMIM:170995	ABCD3	5825	HP:0000268	Dolichocephaly
OMIM:170995	ABCD3	5825	HP:0000028	Cryptorchidism
OMIM:170995	ABCD3	5825	HP:0000348	High forehead
OMIM:170995	ABCD3	5825	HP:0002967	Cubitus valgus
OMIM:170995	ABCD3	5825	HP:0000954	Single transverse palmar crease
OMIM:170995	ABCD3	5825	HP:0001508	Failure to thrive
OMIM:170995	ABCD3	5825	HP:0000175	Cleft palate
OMIM:170995	ABCD3	5825	HP:0001511	Intrauterine growth retardation
OMIM:170995	ABCD3	5825	HP:0000262	Turricephaly
OMIM:170995	ABCD3	5825	HP:0000582	Upslanted palpebral fissure
OMIM:170995	ABCD3	5825	HP:0001762	Talipes equinovarus
OMIM:170995	ABCD3	5825	HP:0011039	Abnormality of the helix
OMIM:170995	ABCD3	5825	HP:0000239	Large fontanelles
OMIM:170995	ABCD3	5825	HP:0000580	Pigmentary retinopathy
OMIM:170995	ABCD3	5825	HP:0000347	Micrognathia
OMIM:614614	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:614614	DIAPH1	1729	HP:0000365	Hearing impairment
OMIM:614614	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:614614	CEACAM16	388551	HP:0000365	Hearing impairment
OMIM:614614	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:614614	SLC17A8	246213	HP:0000365	Hearing impairment
OMIM:614614	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:614614	TJP2	9414	HP:0000365	Hearing impairment
OMIM:614614	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:614614	ACTG1	71	HP:0000365	Hearing impairment
OMIM:614614	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:614614	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:614614	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:614614	MIR96	407053	HP:0000365	Hearing impairment
OMIM:614614	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:614614	GJB2	2706	HP:0000365	Hearing impairment
OMIM:614614	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:614614	POU4F3	5459	HP:0000365	Hearing impairment
OMIM:614614	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:614614	GJB3	2707	HP:0000365	Hearing impairment
OMIM:614614	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:614614	MYH9	4627	HP:0000365	Hearing impairment
OMIM:614614	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:614614	CRYM	1428	HP:0000365	Hearing impairment
OMIM:614614	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:614614	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:614614	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:614614	EYA4	2070	HP:0000365	Hearing impairment
OMIM:614614	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:614614	DFNA5	1687	HP:0000365	Hearing impairment
OMIM:614614	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:614614	DIAPH3	81624	HP:0000365	Hearing impairment
OMIM:614614	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:614614	TMC1	117531	HP:0000365	Hearing impairment
OMIM:614614	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:614614	COCH	1690	HP:0000365	Hearing impairment
OMIM:614614	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:614614	OSBPL2	9885	HP:0000365	Hearing impairment
OMIM:614614	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:614614	SIX1	6495	HP:0000365	Hearing impairment
OMIM:614614	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:614614	TECTA	7007	HP:0000365	Hearing impairment
OMIM:614614	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:614614	MYO1A	4640	HP:0000365	Hearing impairment
OMIM:614614	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:614614	MYO1C	4641	HP:0000365	Hearing impairment
OMIM:614614	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:614614	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614614	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:614614	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:614614	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:614614	GRHL2	79977	HP:0000365	Hearing impairment
OMIM:614614	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:614614	DIABLO	56616	HP:0000365	Hearing impairment
OMIM:614614	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:614614	MYH14	79784	HP:0000365	Hearing impairment
OMIM:614614	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:614614	P2RX2	22953	HP:0000365	Hearing impairment
OMIM:614614	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:614614	WFS1	7466	HP:0000365	Hearing impairment
OMIM:614614	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:614614	TNC	3371	HP:0000365	Hearing impairment
OMIM:614614	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:614614	KCNQ4	9132	HP:0000365	Hearing impairment
OMIM:614614	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:614614	HOMER2	9455	HP:0000365	Hearing impairment
OMIM:614614	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:614614	GJB6	10804	HP:0000365	Hearing impairment
OMIM:614614	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:614614	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:113100	BMPR1B	658	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:113100	BMPR1B	658	HP:0004209	Clinodactyly of the 5th finger
OMIM:113100	BMPR1B	658	HP:0000006	Autosomal dominant inheritance
OMIM:113100	BMPR1B	658	HP:0001762	Talipes equinovarus
OMIM:113100	BMPR1B	658	HP:0010034	Short 1st metacarpal
OMIM:113100	BMPR1B	658	HP:0003067	Madelung deformity
OMIM:113100	BMPR1B	658	HP:0001883	Talipes
OMIM:113100	BMPR1B	658	HP:0005819	Short middle phalanx of finger
OMIM:113100	BMPR1B	658	HP:0001231	Abnormality of the fingernails
OMIM:113100	BMPR1B	658	HP:0001156	Brachydactyly syndrome
OMIM:113100	BMPR1B	658	HP:0001831	Short toe
OMIM:113100	BMPR1B	658	HP:0010442	Polydactyly
OMIM:113100	BMPR1B	658	HP:0009465	Ulnar deviation of finger
OMIM:113100	BMPR1B	658	HP:0010579	Cone-shaped epiphysis
OMIM:113100	BMPR1B	658	HP:0002750	Delayed skeletal maturation
OMIM:113100	BMPR1B	658	HP:0004322	Short stature
OMIM:113100	BMPR1B	658	HP:0001163	Abnormality of the metacarpal bones
OMIM:113100	GDF5	8200	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:113100	GDF5	8200	HP:0004209	Clinodactyly of the 5th finger
OMIM:113100	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:113100	GDF5	8200	HP:0001762	Talipes equinovarus
OMIM:113100	GDF5	8200	HP:0010034	Short 1st metacarpal
OMIM:113100	GDF5	8200	HP:0003067	Madelung deformity
OMIM:113100	GDF5	8200	HP:0001883	Talipes
OMIM:113100	GDF5	8200	HP:0005819	Short middle phalanx of finger
OMIM:113100	GDF5	8200	HP:0001231	Abnormality of the fingernails
OMIM:113100	GDF5	8200	HP:0001156	Brachydactyly syndrome
OMIM:113100	GDF5	8200	HP:0001831	Short toe
OMIM:113100	GDF5	8200	HP:0010442	Polydactyly
OMIM:113100	GDF5	8200	HP:0009465	Ulnar deviation of finger
OMIM:113100	GDF5	8200	HP:0010579	Cone-shaped epiphysis
OMIM:113100	GDF5	8200	HP:0002750	Delayed skeletal maturation
OMIM:113100	GDF5	8200	HP:0004322	Short stature
OMIM:113100	GDF5	8200	HP:0001163	Abnormality of the metacarpal bones
OMIM:614500	RLBP1	6017	HP:0100259	Postaxial polydactyly
OMIM:614500	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:614500	RLBP1	6017	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:614500	RLBP1	6017	HP:0007401	Macular atrophy
OMIM:614500	SPATA7	55812	HP:0100259	Postaxial polydactyly
OMIM:614500	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:614500	SPATA7	55812	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:614500	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:614500	SPATA7	55812	HP:0007401	Macular atrophy
OMIM:614500	ARL6	84100	HP:0100259	Postaxial polydactyly
OMIM:614500	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:614500	ARL6	84100	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:614500	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:614500	ARL6	84100	HP:0007401	Macular atrophy
OMIM:614500	UNC119	9094	HP:0100259	Postaxial polydactyly
OMIM:614500	UNC119	9094	HP:0000510	Rod-cone dystrophy
OMIM:614500	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	UNC119	9094	HP:0000007	Autosomal recessive inheritance
OMIM:614500	UNC119	9094	HP:0000543	Optic disc pallor
OMIM:614500	UNC119	9094	HP:0007401	Macular atrophy
OMIM:614500	CERKL	375298	HP:0100259	Postaxial polydactyly
OMIM:614500	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:614500	CERKL	375298	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:614500	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:614500	CERKL	375298	HP:0007401	Macular atrophy
OMIM:614500	RPGRIP1	57096	HP:0100259	Postaxial polydactyly
OMIM:614500	RPGRIP1	57096	HP:0000510	Rod-cone dystrophy
OMIM:614500	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RPGRIP1	57096	HP:0000543	Optic disc pallor
OMIM:614500	RPGRIP1	57096	HP:0007401	Macular atrophy
OMIM:614500	PRPF31	26121	HP:0100259	Postaxial polydactyly
OMIM:614500	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:614500	PRPF31	26121	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:614500	PRPF31	26121	HP:0007401	Macular atrophy
OMIM:614500	TTC8	123016	HP:0100259	Postaxial polydactyly
OMIM:614500	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:614500	TTC8	123016	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:614500	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:614500	TTC8	123016	HP:0007401	Macular atrophy
OMIM:614500	PROM1	8842	HP:0100259	Postaxial polydactyly
OMIM:614500	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:614500	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:614500	PROM1	8842	HP:0007401	Macular atrophy
OMIM:614500	CACNA1F	778	HP:0100259	Postaxial polydactyly
OMIM:614500	CACNA1F	778	HP:0000510	Rod-cone dystrophy
OMIM:614500	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:614500	CACNA1F	778	HP:0000543	Optic disc pallor
OMIM:614500	CACNA1F	778	HP:0007401	Macular atrophy
OMIM:614500	LRAT	9227	HP:0100259	Postaxial polydactyly
OMIM:614500	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:614500	LRAT	9227	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:614500	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:614500	LRAT	9227	HP:0007401	Macular atrophy
OMIM:614500	IFT140	9742	HP:0100259	Postaxial polydactyly
OMIM:614500	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:614500	IFT140	9742	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:614500	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:614500	IFT140	9742	HP:0007401	Macular atrophy
OMIM:614500	BEST1	7439	HP:0100259	Postaxial polydactyly
OMIM:614500	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:614500	BEST1	7439	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:614500	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:614500	BEST1	7439	HP:0007401	Macular atrophy
OMIM:614500	NEK2	4751	HP:0100259	Postaxial polydactyly
OMIM:614500	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:614500	NEK2	4751	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:614500	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:614500	NEK2	4751	HP:0007401	Macular atrophy
OMIM:614500	ARL2BP	23568	HP:0100259	Postaxial polydactyly
OMIM:614500	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:614500	ARL2BP	23568	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:614500	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:614500	ARL2BP	23568	HP:0007401	Macular atrophy
OMIM:614500	NR2E3	10002	HP:0100259	Postaxial polydactyly
OMIM:614500	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:614500	NR2E3	10002	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:614500	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:614500	NR2E3	10002	HP:0007401	Macular atrophy
OMIM:614500	EYS	346007	HP:0100259	Postaxial polydactyly
OMIM:614500	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:614500	EYS	346007	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:614500	EYS	346007	HP:0000543	Optic disc pallor
OMIM:614500	EYS	346007	HP:0007401	Macular atrophy
OMIM:614500	CACNA2D4	93589	HP:0100259	Postaxial polydactyly
OMIM:614500	CACNA2D4	93589	HP:0000510	Rod-cone dystrophy
OMIM:614500	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:614500	CACNA2D4	93589	HP:0000543	Optic disc pallor
OMIM:614500	CACNA2D4	93589	HP:0007401	Macular atrophy
OMIM:614500	RAB28	9364	HP:0100259	Postaxial polydactyly
OMIM:614500	RAB28	9364	HP:0000510	Rod-cone dystrophy
OMIM:614500	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RAB28	9364	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RAB28	9364	HP:0000543	Optic disc pallor
OMIM:614500	RAB28	9364	HP:0007401	Macular atrophy
OMIM:614500	MAK	4117	HP:0100259	Postaxial polydactyly
OMIM:614500	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:614500	MAK	4117	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:614500	MAK	4117	HP:0000543	Optic disc pallor
OMIM:614500	MAK	4117	HP:0007401	Macular atrophy
OMIM:614500	SAG	6295	HP:0100259	Postaxial polydactyly
OMIM:614500	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:614500	SAG	6295	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:614500	SAG	6295	HP:0000543	Optic disc pallor
OMIM:614500	SAG	6295	HP:0007401	Macular atrophy
OMIM:614500	ABCA4	24	HP:0100259	Postaxial polydactyly
OMIM:614500	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:614500	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:614500	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:614500	ABCA4	24	HP:0007401	Macular atrophy
OMIM:614500	PDE6A	5145	HP:0100259	Postaxial polydactyly
OMIM:614500	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:614500	PDE6A	5145	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:614500	PDE6A	5145	HP:0007401	Macular atrophy
OMIM:614500	PDE6G	5148	HP:0100259	Postaxial polydactyly
OMIM:614500	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:614500	PDE6G	5148	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:614500	PDE6G	5148	HP:0007401	Macular atrophy
OMIM:614500	IMPDH1	3614	HP:0100259	Postaxial polydactyly
OMIM:614500	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:614500	IMPDH1	3614	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:614500	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:614500	IMPDH1	3614	HP:0007401	Macular atrophy
OMIM:614500	OFD1	8481	HP:0100259	Postaxial polydactyly
OMIM:614500	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:614500	OFD1	8481	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:614500	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:614500	OFD1	8481	HP:0007401	Macular atrophy
OMIM:614500	GUCA1A	2978	HP:0100259	Postaxial polydactyly
OMIM:614500	GUCA1A	2978	HP:0000510	Rod-cone dystrophy
OMIM:614500	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	GUCA1A	2978	HP:0000007	Autosomal recessive inheritance
OMIM:614500	GUCA1A	2978	HP:0000543	Optic disc pallor
OMIM:614500	GUCA1A	2978	HP:0007401	Macular atrophy
OMIM:614500	GUCA1B	2979	HP:0100259	Postaxial polydactyly
OMIM:614500	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:614500	GUCA1B	2979	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:614500	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:614500	GUCA1B	2979	HP:0007401	Macular atrophy
OMIM:614500	NRL	4901	HP:0100259	Postaxial polydactyly
OMIM:614500	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:614500	NRL	4901	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:614500	NRL	4901	HP:0000543	Optic disc pallor
OMIM:614500	NRL	4901	HP:0007401	Macular atrophy
OMIM:614500	PDE6B	5158	HP:0100259	Postaxial polydactyly
OMIM:614500	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:614500	PDE6B	5158	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:614500	PDE6B	5158	HP:0007401	Macular atrophy
OMIM:614500	KLHL7	55975	HP:0100259	Postaxial polydactyly
OMIM:614500	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:614500	KLHL7	55975	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:614500	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:614500	KLHL7	55975	HP:0007401	Macular atrophy
OMIM:614500	PRPF4	9128	HP:0100259	Postaxial polydactyly
OMIM:614500	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:614500	PRPF4	9128	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:614500	PRPF4	9128	HP:0007401	Macular atrophy
OMIM:614500	PRPF3	9129	HP:0100259	Postaxial polydactyly
OMIM:614500	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:614500	PRPF3	9129	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:614500	PRPF3	9129	HP:0007401	Macular atrophy
OMIM:614500	FAM161A	84140	HP:0100259	Postaxial polydactyly
OMIM:614500	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:614500	FAM161A	84140	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:614500	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:614500	FAM161A	84140	HP:0007401	Macular atrophy
OMIM:614500	IFT172	26160	HP:0100259	Postaxial polydactyly
OMIM:614500	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:614500	IFT172	26160	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:614500	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:614500	IFT172	26160	HP:0007401	Macular atrophy
OMIM:614500	KIZ	55857	HP:0100259	Postaxial polydactyly
OMIM:614500	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:614500	KIZ	55857	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:614500	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:614500	KIZ	55857	HP:0007401	Macular atrophy
OMIM:614500	CDHR1	92211	HP:0100259	Postaxial polydactyly
OMIM:614500	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:614500	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:614500	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:614500	CDHR1	92211	HP:0007401	Macular atrophy
OMIM:614500	ADAM9	8754	HP:0100259	Postaxial polydactyly
OMIM:614500	ADAM9	8754	HP:0000510	Rod-cone dystrophy
OMIM:614500	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	ADAM9	8754	HP:0000007	Autosomal recessive inheritance
OMIM:614500	ADAM9	8754	HP:0000543	Optic disc pallor
OMIM:614500	ADAM9	8754	HP:0007401	Macular atrophy
OMIM:614500	ZNF408	79797	HP:0100259	Postaxial polydactyly
OMIM:614500	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:614500	ZNF408	79797	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:614500	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:614500	ZNF408	79797	HP:0007401	Macular atrophy
OMIM:614500	TTLL5	23093	HP:0100259	Postaxial polydactyly
OMIM:614500	TTLL5	23093	HP:0000510	Rod-cone dystrophy
OMIM:614500	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	TTLL5	23093	HP:0000007	Autosomal recessive inheritance
OMIM:614500	TTLL5	23093	HP:0000543	Optic disc pallor
OMIM:614500	TTLL5	23093	HP:0007401	Macular atrophy
OMIM:614500	GUCY2D	3000	HP:0100259	Postaxial polydactyly
OMIM:614500	GUCY2D	3000	HP:0000510	Rod-cone dystrophy
OMIM:614500	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:614500	GUCY2D	3000	HP:0000543	Optic disc pallor
OMIM:614500	GUCY2D	3000	HP:0007401	Macular atrophy
OMIM:614500	RBP3	5949	HP:0100259	Postaxial polydactyly
OMIM:614500	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:614500	RBP3	5949	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:614500	RBP3	5949	HP:0007401	Macular atrophy
OMIM:614500	POC1B	282809	HP:0100259	Postaxial polydactyly
OMIM:614500	POC1B	282809	HP:0000510	Rod-cone dystrophy
OMIM:614500	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	POC1B	282809	HP:0000007	Autosomal recessive inheritance
OMIM:614500	POC1B	282809	HP:0000543	Optic disc pallor
OMIM:614500	POC1B	282809	HP:0007401	Macular atrophy
OMIM:614500	HGSNAT	138050	HP:0100259	Postaxial polydactyly
OMIM:614500	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:614500	HGSNAT	138050	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:614500	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:614500	HGSNAT	138050	HP:0007401	Macular atrophy
OMIM:614500	FSCN2	25794	HP:0100259	Postaxial polydactyly
OMIM:614500	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:614500	FSCN2	25794	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:614500	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:614500	FSCN2	25794	HP:0007401	Macular atrophy
OMIM:614500	AIPL1	23746	HP:0100259	Postaxial polydactyly
OMIM:614500	AIPL1	23746	HP:0000510	Rod-cone dystrophy
OMIM:614500	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:614500	AIPL1	23746	HP:0000543	Optic disc pallor
OMIM:614500	AIPL1	23746	HP:0007401	Macular atrophy
OMIM:614500	PITPNM3	83394	HP:0100259	Postaxial polydactyly
OMIM:614500	PITPNM3	83394	HP:0000510	Rod-cone dystrophy
OMIM:614500	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PITPNM3	83394	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PITPNM3	83394	HP:0000543	Optic disc pallor
OMIM:614500	PITPNM3	83394	HP:0007401	Macular atrophy
OMIM:614500	OPN1LW	5956	HP:0100259	Postaxial polydactyly
OMIM:614500	OPN1LW	5956	HP:0000510	Rod-cone dystrophy
OMIM:614500	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	OPN1LW	5956	HP:0000007	Autosomal recessive inheritance
OMIM:614500	OPN1LW	5956	HP:0000543	Optic disc pallor
OMIM:614500	OPN1LW	5956	HP:0007401	Macular atrophy
OMIM:614500	PRCD	768206	HP:0100259	Postaxial polydactyly
OMIM:614500	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:614500	PRCD	768206	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:614500	PRCD	768206	HP:0007401	Macular atrophy
OMIM:614500	BBS2	583	HP:0100259	Postaxial polydactyly
OMIM:614500	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:614500	BBS2	583	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:614500	BBS2	583	HP:0000543	Optic disc pallor
OMIM:614500	BBS2	583	HP:0007401	Macular atrophy
OMIM:614500	RDH12	145226	HP:0100259	Postaxial polydactyly
OMIM:614500	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:614500	RDH12	145226	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:614500	RDH12	145226	HP:0007401	Macular atrophy
OMIM:614500	PRPH2	5961	HP:0100259	Postaxial polydactyly
OMIM:614500	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:614500	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:614500	PRPH2	5961	HP:0007401	Macular atrophy
OMIM:614500	DHDDS	79947	HP:0100259	Postaxial polydactyly
OMIM:614500	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:614500	DHDDS	79947	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:614500	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:614500	DHDDS	79947	HP:0007401	Macular atrophy
OMIM:614500	ROM1	6094	HP:0100259	Postaxial polydactyly
OMIM:614500	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:614500	ROM1	6094	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:614500	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:614500	ROM1	6094	HP:0007401	Macular atrophy
OMIM:614500	C2ORF71	388939	HP:0100259	Postaxial polydactyly
OMIM:614500	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:614500	C2ORF71	388939	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:614500	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:614500	C2ORF71	388939	HP:0007401	Macular atrophy
OMIM:614500	DRAM2	128338	HP:0100259	Postaxial polydactyly
OMIM:614500	DRAM2	128338	HP:0000510	Rod-cone dystrophy
OMIM:614500	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	DRAM2	128338	HP:0000007	Autosomal recessive inheritance
OMIM:614500	DRAM2	128338	HP:0000543	Optic disc pallor
OMIM:614500	DRAM2	128338	HP:0007401	Macular atrophy
OMIM:614500	RP9	6100	HP:0100259	Postaxial polydactyly
OMIM:614500	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:614500	RP9	6100	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RP9	6100	HP:0000543	Optic disc pallor
OMIM:614500	RP9	6100	HP:0007401	Macular atrophy
OMIM:614500	PRPF6	24148	HP:0100259	Postaxial polydactyly
OMIM:614500	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:614500	PRPF6	24148	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:614500	PRPF6	24148	HP:0007401	Macular atrophy
OMIM:614500	RP1	6101	HP:0100259	Postaxial polydactyly
OMIM:614500	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:614500	RP1	6101	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RP1	6101	HP:0000543	Optic disc pallor
OMIM:614500	RP1	6101	HP:0007401	Macular atrophy
OMIM:614500	RP2	6102	HP:0100259	Postaxial polydactyly
OMIM:614500	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:614500	RP2	6102	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RP2	6102	HP:0000543	Optic disc pallor
OMIM:614500	RP2	6102	HP:0007401	Macular atrophy
OMIM:614500	RPGR	6103	HP:0100259	Postaxial polydactyly
OMIM:614500	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:614500	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:614500	RPGR	6103	HP:0007401	Macular atrophy
OMIM:614500	RIMS1	22999	HP:0100259	Postaxial polydactyly
OMIM:614500	RIMS1	22999	HP:0000510	Rod-cone dystrophy
OMIM:614500	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RIMS1	22999	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RIMS1	22999	HP:0000543	Optic disc pallor
OMIM:614500	RIMS1	22999	HP:0007401	Macular atrophy
OMIM:614500	SEMA4A	64218	HP:0100259	Postaxial polydactyly
OMIM:614500	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:614500	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:614500	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:614500	SEMA4A	64218	HP:0007401	Macular atrophy
OMIM:614500	C8ORF37	157657	HP:0100259	Postaxial polydactyly
OMIM:614500	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:614500	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:614500	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:614500	C8ORF37	157657	HP:0007401	Macular atrophy
OMIM:614500	IDH3B	3420	HP:0100259	Postaxial polydactyly
OMIM:614500	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:614500	IDH3B	3420	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:614500	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:614500	IDH3B	3420	HP:0007401	Macular atrophy
OMIM:614500	OPN1MW	2652	HP:0100259	Postaxial polydactyly
OMIM:614500	OPN1MW	2652	HP:0000510	Rod-cone dystrophy
OMIM:614500	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	OPN1MW	2652	HP:0000007	Autosomal recessive inheritance
OMIM:614500	OPN1MW	2652	HP:0000543	Optic disc pallor
OMIM:614500	OPN1MW	2652	HP:0007401	Macular atrophy
OMIM:614500	MERTK	10461	HP:0100259	Postaxial polydactyly
OMIM:614500	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:614500	MERTK	10461	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:614500	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:614500	MERTK	10461	HP:0007401	Macular atrophy
OMIM:614500	PRPF8	10594	HP:0100259	Postaxial polydactyly
OMIM:614500	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:614500	PRPF8	10594	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:614500	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:614500	PRPF8	10594	HP:0007401	Macular atrophy
OMIM:614500	TOPORS	10210	HP:0100259	Postaxial polydactyly
OMIM:614500	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:614500	TOPORS	10210	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:614500	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:614500	TOPORS	10210	HP:0007401	Macular atrophy
OMIM:614500	RAX2	84839	HP:0100259	Postaxial polydactyly
OMIM:614500	RAX2	84839	HP:0000510	Rod-cone dystrophy
OMIM:614500	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RAX2	84839	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RAX2	84839	HP:0000543	Optic disc pallor
OMIM:614500	RAX2	84839	HP:0007401	Macular atrophy
OMIM:614500	USH2A	7399	HP:0100259	Postaxial polydactyly
OMIM:614500	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:614500	USH2A	7399	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:614500	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:614500	USH2A	7399	HP:0007401	Macular atrophy
OMIM:614500	RPE65	6121	HP:0100259	Postaxial polydactyly
OMIM:614500	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:614500	RPE65	6121	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:614500	RPE65	6121	HP:0007401	Macular atrophy
OMIM:614500	CLRN1	7401	HP:0100259	Postaxial polydactyly
OMIM:614500	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:614500	CLRN1	7401	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:614500	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:614500	CLRN1	7401	HP:0007401	Macular atrophy
OMIM:614500	CNGB1	1258	HP:0100259	Postaxial polydactyly
OMIM:614500	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:614500	CNGB1	1258	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:614500	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:614500	CNGB1	1258	HP:0007401	Macular atrophy
OMIM:614500	RGR	5995	HP:0100259	Postaxial polydactyly
OMIM:614500	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:614500	RGR	5995	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RGR	5995	HP:0000543	Optic disc pallor
OMIM:614500	RGR	5995	HP:0007401	Macular atrophy
OMIM:614500	CNGA1	1259	HP:0100259	Postaxial polydactyly
OMIM:614500	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:614500	CNGA1	1259	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:614500	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:614500	CNGA1	1259	HP:0007401	Macular atrophy
OMIM:614500	TUB	7275	HP:0100259	Postaxial polydactyly
OMIM:614500	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:614500	TUB	7275	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:614500	TUB	7275	HP:0000543	Optic disc pallor
OMIM:614500	TUB	7275	HP:0007401	Macular atrophy
OMIM:614500	SNRNP200	23020	HP:0100259	Postaxial polydactyly
OMIM:614500	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:614500	SNRNP200	23020	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:614500	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:614500	SNRNP200	23020	HP:0007401	Macular atrophy
OMIM:614500	SLC7A14	57709	HP:0100259	Postaxial polydactyly
OMIM:614500	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:614500	SLC7A14	57709	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:614500	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:614500	SLC7A14	57709	HP:0007401	Macular atrophy
OMIM:614500	CNGA3	1261	HP:0100259	Postaxial polydactyly
OMIM:614500	CNGA3	1261	HP:0000510	Rod-cone dystrophy
OMIM:614500	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:614500	CNGA3	1261	HP:0000543	Optic disc pallor
OMIM:614500	CNGA3	1261	HP:0007401	Macular atrophy
OMIM:614500	TULP1	7287	HP:0100259	Postaxial polydactyly
OMIM:614500	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:614500	TULP1	7287	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:614500	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:614500	TULP1	7287	HP:0007401	Macular atrophy
OMIM:614500	RHO	6010	HP:0100259	Postaxial polydactyly
OMIM:614500	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:614500	RHO	6010	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:614500	RHO	6010	HP:0000543	Optic disc pallor
OMIM:614500	RHO	6010	HP:0007401	Macular atrophy
OMIM:614500	CA4	762	HP:0100259	Postaxial polydactyly
OMIM:614500	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:614500	CA4	762	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:614500	CA4	762	HP:0000543	Optic disc pallor
OMIM:614500	CA4	762	HP:0007401	Macular atrophy
OMIM:614500	CRB1	23418	HP:0100259	Postaxial polydactyly
OMIM:614500	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:614500	CRB1	23418	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:614500	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:614500	CRB1	23418	HP:0007401	Macular atrophy
OMIM:614500	IMPG2	50939	HP:0100259	Postaxial polydactyly
OMIM:614500	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:614500	IMPG2	50939	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:614500	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:614500	IMPG2	50939	HP:0007401	Macular atrophy
OMIM:614500	ZNF513	130557	HP:0100259	Postaxial polydactyly
OMIM:614500	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:614500	ZNF513	130557	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:614500	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:614500	ZNF513	130557	HP:0007401	Macular atrophy
OMIM:614500	CRX	1406	HP:0100259	Postaxial polydactyly
OMIM:614500	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:614500	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:614500	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:614500	CRX	1406	HP:0000543	Optic disc pallor
OMIM:614500	CRX	1406	HP:0007401	Macular atrophy
OMIM:610618	F12	2161	HP:0000006	Autosomal dominant inheritance
OMIM:610618	F12	2161	HP:0002013	Vomiting
OMIM:610618	F12	2161	HP:0002574	Episodic abdominal pain
OMIM:614945	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:614945	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:614945	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:614945	BSND	7809	HP:0000365	Hearing impairment
OMIM:614945	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:614945	ESPN	83715	HP:0000365	Hearing impairment
OMIM:614945	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:614945	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:614945	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:614945	OTOA	146183	HP:0000365	Hearing impairment
OMIM:614945	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:614945	GJA1	2697	HP:0000365	Hearing impairment
OMIM:614945	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:614945	MET	4233	HP:0000365	Hearing impairment
OMIM:614945	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:614945	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:614945	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:614945	HGF	3082	HP:0000365	Hearing impairment
OMIM:614945	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:614945	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:614945	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:614945	EPS8	2059	HP:0000365	Hearing impairment
OMIM:614945	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:614945	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:614945	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:614945	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:614945	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:614945	GJB2	2706	HP:0000365	Hearing impairment
OMIM:614945	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:614945	GJB3	2707	HP:0000365	Hearing impairment
OMIM:614945	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:614945	CABP2	51475	HP:0000365	Hearing impairment
OMIM:614945	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:614945	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:614945	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:614945	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:614945	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:614945	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:614945	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614945	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614945	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:614945	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:614945	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:614945	KARS	3735	HP:0000365	Hearing impairment
OMIM:614945	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:614945	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:614945	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:614945	TMC1	117531	HP:0000365	Hearing impairment
OMIM:614945	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:614945	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:614945	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:614945	OTOF	9381	HP:0000365	Hearing impairment
OMIM:614945	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614945	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614945	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:614945	TMIE	259236	HP:0000365	Hearing impairment
OMIM:614945	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:614945	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:614945	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:614945	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:614945	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:614945	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:614945	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:614945	TPRN	286262	HP:0000365	Hearing impairment
OMIM:614945	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:614945	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:614945	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:614945	GJB6	10804	HP:0000365	Hearing impairment
OMIM:614945	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:614945	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:614945	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:614945	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:614945	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:614945	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:614945	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:614945	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:614945	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614945	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614945	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:614945	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:614945	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:614945	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:614945	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:614945	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:614945	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:614945	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:614945	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:614945	CDH23	64072	HP:0000365	Hearing impairment
OMIM:614945	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:614945	RDX	5962	HP:0000365	Hearing impairment
OMIM:614945	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:614945	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:614945	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:614945	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:614945	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:614945	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:614945	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:614945	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:614945	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:614945	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:614945	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:614945	STRC	161497	HP:0000365	Hearing impairment
OMIM:614945	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614945	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:614945	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:614945	TECTA	7007	HP:0000365	Hearing impairment
OMIM:614945	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:614945	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:614945	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:614945	USH1C	10083	HP:0000365	Hearing impairment
OMIM:614945	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:614945	ADCY1	107	HP:0000365	Hearing impairment
OMIM:614945	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:614945	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:614945	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:614945	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:614945	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:614945	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:614945	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:614945	OTOG	340990	HP:0000365	Hearing impairment
ORPHANET:3250	GDF5	8200	HP:0006101	Finger syndactyly
ORPHANET:3250	GDF5	8200	HP:0000407	Sensorineural hearing impairment
ORPHANET:3250	GDF5	8200	HP:0003042	Elbow dislocation
ORPHANET:3250	GDF5	8200	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHANET:3250	GDF5	8200	HP:0003041	Humeroradial synostosis
ORPHANET:3250	GDF5	8200	HP:0001156	Brachydactyly syndrome
ORPHANET:3250	GDF5	8200	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:3250	GDF5	8200	HP:0000486	Strabismus
ORPHANET:3250	GDF5	8200	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:3250	GDF5	8200	HP:0005048	Synostosis of carpal bones
ORPHANET:3250	GDF5	8200	HP:0008368	Tarsal synostosis
ORPHANET:3250	GDF5	8200	HP:0100490	Camptodactyly of finger
ORPHANET:3250	NOG	9241	HP:0006101	Finger syndactyly
ORPHANET:3250	NOG	9241	HP:0000407	Sensorineural hearing impairment
ORPHANET:3250	NOG	9241	HP:0003042	Elbow dislocation
ORPHANET:3250	NOG	9241	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHANET:3250	NOG	9241	HP:0003041	Humeroradial synostosis
ORPHANET:3250	NOG	9241	HP:0001156	Brachydactyly syndrome
ORPHANET:3250	NOG	9241	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:3250	NOG	9241	HP:0000486	Strabismus
ORPHANET:3250	NOG	9241	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:3250	NOG	9241	HP:0005048	Synostosis of carpal bones
ORPHANET:3250	NOG	9241	HP:0008368	Tarsal synostosis
ORPHANET:3250	NOG	9241	HP:0100490	Camptodactyly of finger
OMIM:611819	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:611819	GATA4	2626	HP:0005110	Atrial fibrillation
OMIM:611819	GATA4	2626	HP:0001678	Atrioventricular block
OMIM:611819	GATA4	2626	HP:0001645	Sudden cardiac death
OMIM:611819	GATA4	2626	HP:0012266	T-wave alternans
OMIM:611819	GATA4	2626	HP:0001657	Prolonged QT interval
OMIM:611819	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:611819	GATA6	2627	HP:0005110	Atrial fibrillation
OMIM:611819	GATA6	2627	HP:0001678	Atrioventricular block
OMIM:611819	GATA6	2627	HP:0001645	Sudden cardiac death
OMIM:611819	GATA6	2627	HP:0012266	T-wave alternans
OMIM:611819	GATA6	2627	HP:0001657	Prolonged QT interval
OMIM:611819	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:611819	KCNE2	9992	HP:0005110	Atrial fibrillation
OMIM:611819	KCNE2	9992	HP:0001678	Atrioventricular block
OMIM:611819	KCNE2	9992	HP:0001645	Sudden cardiac death
OMIM:611819	KCNE2	9992	HP:0012266	T-wave alternans
OMIM:611819	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:611819	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:611819	KCNQ1	3784	HP:0005110	Atrial fibrillation
OMIM:611819	KCNQ1	3784	HP:0001678	Atrioventricular block
OMIM:611819	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:611819	KCNQ1	3784	HP:0012266	T-wave alternans
OMIM:611819	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:611819	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:611819	NKX2-5	1482	HP:0005110	Atrial fibrillation
OMIM:611819	NKX2-5	1482	HP:0001678	Atrioventricular block
OMIM:611819	NKX2-5	1482	HP:0001645	Sudden cardiac death
OMIM:611819	NKX2-5	1482	HP:0012266	T-wave alternans
OMIM:611819	NKX2-5	1482	HP:0001657	Prolonged QT interval
OMIM:611819	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:611819	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:611819	ABCC9	10060	HP:0001678	Atrioventricular block
OMIM:611819	ABCC9	10060	HP:0001645	Sudden cardiac death
OMIM:611819	ABCC9	10060	HP:0012266	T-wave alternans
OMIM:611819	ABCC9	10060	HP:0001657	Prolonged QT interval
OMIM:611819	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:611819	GJA5	2702	HP:0005110	Atrial fibrillation
OMIM:611819	GJA5	2702	HP:0001678	Atrioventricular block
OMIM:611819	GJA5	2702	HP:0001645	Sudden cardiac death
OMIM:611819	GJA5	2702	HP:0012266	T-wave alternans
OMIM:611819	GJA5	2702	HP:0001657	Prolonged QT interval
OMIM:611819	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:611819	NPPA	4878	HP:0005110	Atrial fibrillation
OMIM:611819	NPPA	4878	HP:0001678	Atrioventricular block
OMIM:611819	NPPA	4878	HP:0001645	Sudden cardiac death
OMIM:611819	NPPA	4878	HP:0012266	T-wave alternans
OMIM:611819	NPPA	4878	HP:0001657	Prolonged QT interval
OMIM:611819	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:611819	NKX2-6	137814	HP:0005110	Atrial fibrillation
OMIM:611819	NKX2-6	137814	HP:0001678	Atrioventricular block
OMIM:611819	NKX2-6	137814	HP:0001645	Sudden cardiac death
OMIM:611819	NKX2-6	137814	HP:0012266	T-wave alternans
OMIM:611819	NKX2-6	137814	HP:0001657	Prolonged QT interval
OMIM:611819	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:611819	GATA5	140628	HP:0005110	Atrial fibrillation
OMIM:611819	GATA5	140628	HP:0001678	Atrioventricular block
OMIM:611819	GATA5	140628	HP:0001645	Sudden cardiac death
OMIM:611819	GATA5	140628	HP:0012266	T-wave alternans
OMIM:611819	GATA5	140628	HP:0001657	Prolonged QT interval
OMIM:611819	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:611819	CAV3	859	HP:0005110	Atrial fibrillation
OMIM:611819	CAV3	859	HP:0001678	Atrioventricular block
OMIM:611819	CAV3	859	HP:0001645	Sudden cardiac death
OMIM:611819	CAV3	859	HP:0012266	T-wave alternans
OMIM:611819	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:611819	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
OMIM:611819	KCNA5	3741	HP:0005110	Atrial fibrillation
OMIM:611819	KCNA5	3741	HP:0001678	Atrioventricular block
OMIM:611819	KCNA5	3741	HP:0001645	Sudden cardiac death
OMIM:611819	KCNA5	3741	HP:0012266	T-wave alternans
OMIM:611819	KCNA5	3741	HP:0001657	Prolonged QT interval
OMIM:611819	AKAP9	10142	HP:0000006	Autosomal dominant inheritance
OMIM:611819	AKAP9	10142	HP:0005110	Atrial fibrillation
OMIM:611819	AKAP9	10142	HP:0001678	Atrioventricular block
OMIM:611819	AKAP9	10142	HP:0001645	Sudden cardiac death
OMIM:611819	AKAP9	10142	HP:0012266	T-wave alternans
OMIM:611819	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:611819	NUP155	9631	HP:0000006	Autosomal dominant inheritance
OMIM:611819	NUP155	9631	HP:0005110	Atrial fibrillation
OMIM:611819	NUP155	9631	HP:0001678	Atrioventricular block
OMIM:611819	NUP155	9631	HP:0001645	Sudden cardiac death
OMIM:611819	NUP155	9631	HP:0012266	T-wave alternans
OMIM:611819	NUP155	9631	HP:0001657	Prolonged QT interval
OMIM:611819	ANK2	287	HP:0000006	Autosomal dominant inheritance
OMIM:611819	ANK2	287	HP:0005110	Atrial fibrillation
OMIM:611819	ANK2	287	HP:0001678	Atrioventricular block
OMIM:611819	ANK2	287	HP:0001645	Sudden cardiac death
OMIM:611819	ANK2	287	HP:0012266	T-wave alternans
OMIM:611819	ANK2	287	HP:0001657	Prolonged QT interval
OMIM:611819	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:611819	CALM1	801	HP:0005110	Atrial fibrillation
OMIM:611819	CALM1	801	HP:0001678	Atrioventricular block
OMIM:611819	CALM1	801	HP:0001645	Sudden cardiac death
OMIM:611819	CALM1	801	HP:0012266	T-wave alternans
OMIM:611819	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:611819	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:611819	CALM2	805	HP:0005110	Atrial fibrillation
OMIM:611819	CALM2	805	HP:0001678	Atrioventricular block
OMIM:611819	CALM2	805	HP:0001645	Sudden cardiac death
OMIM:611819	CALM2	805	HP:0012266	T-wave alternans
OMIM:611819	CALM2	805	HP:0001657	Prolonged QT interval
OMIM:611819	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:611819	KCNE1	3753	HP:0005110	Atrial fibrillation
OMIM:611819	KCNE1	3753	HP:0001678	Atrioventricular block
OMIM:611819	KCNE1	3753	HP:0001645	Sudden cardiac death
OMIM:611819	KCNE1	3753	HP:0012266	T-wave alternans
OMIM:611819	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:611819	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:611819	KCNH2	3757	HP:0005110	Atrial fibrillation
OMIM:611819	KCNH2	3757	HP:0001678	Atrioventricular block
OMIM:611819	KCNH2	3757	HP:0001645	Sudden cardiac death
OMIM:611819	KCNH2	3757	HP:0012266	T-wave alternans
OMIM:611819	KCNH2	3757	HP:0001657	Prolonged QT interval
OMIM:611819	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:611819	KCNJ2	3759	HP:0005110	Atrial fibrillation
OMIM:611819	KCNJ2	3759	HP:0001678	Atrioventricular block
OMIM:611819	KCNJ2	3759	HP:0001645	Sudden cardiac death
OMIM:611819	KCNJ2	3759	HP:0012266	T-wave alternans
OMIM:611819	KCNJ2	3759	HP:0001657	Prolonged QT interval
OMIM:611819	SNTA1	6640	HP:0000006	Autosomal dominant inheritance
OMIM:611819	SNTA1	6640	HP:0005110	Atrial fibrillation
OMIM:611819	SNTA1	6640	HP:0001678	Atrioventricular block
OMIM:611819	SNTA1	6640	HP:0001645	Sudden cardiac death
OMIM:611819	SNTA1	6640	HP:0012266	T-wave alternans
OMIM:611819	SNTA1	6640	HP:0001657	Prolonged QT interval
OMIM:611819	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:611819	KCNJ5	3762	HP:0005110	Atrial fibrillation
OMIM:611819	KCNJ5	3762	HP:0001678	Atrioventricular block
OMIM:611819	KCNJ5	3762	HP:0001645	Sudden cardiac death
OMIM:611819	KCNJ5	3762	HP:0012266	T-wave alternans
OMIM:611819	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:611819	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:611819	SCN2B	6327	HP:0005110	Atrial fibrillation
OMIM:611819	SCN2B	6327	HP:0001678	Atrioventricular block
OMIM:611819	SCN2B	6327	HP:0001645	Sudden cardiac death
OMIM:611819	SCN2B	6327	HP:0012266	T-wave alternans
OMIM:611819	SCN2B	6327	HP:0001657	Prolonged QT interval
OMIM:611819	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:611819	SCN3B	55800	HP:0005110	Atrial fibrillation
OMIM:611819	SCN3B	55800	HP:0001678	Atrioventricular block
OMIM:611819	SCN3B	55800	HP:0001645	Sudden cardiac death
OMIM:611819	SCN3B	55800	HP:0012266	T-wave alternans
OMIM:611819	SCN3B	55800	HP:0001657	Prolonged QT interval
OMIM:611819	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:611819	SCN4B	6330	HP:0005110	Atrial fibrillation
OMIM:611819	SCN4B	6330	HP:0001678	Atrioventricular block
OMIM:611819	SCN4B	6330	HP:0001645	Sudden cardiac death
OMIM:611819	SCN4B	6330	HP:0012266	T-wave alternans
OMIM:611819	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:611819	NOS1AP	9722	HP:0000006	Autosomal dominant inheritance
OMIM:611819	NOS1AP	9722	HP:0005110	Atrial fibrillation
OMIM:611819	NOS1AP	9722	HP:0001678	Atrioventricular block
OMIM:611819	NOS1AP	9722	HP:0001645	Sudden cardiac death
OMIM:611819	NOS1AP	9722	HP:0012266	T-wave alternans
OMIM:611819	NOS1AP	9722	HP:0001657	Prolonged QT interval
OMIM:611819	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:611819	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:611819	SCN5A	6331	HP:0001678	Atrioventricular block
OMIM:611819	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:611819	SCN5A	6331	HP:0012266	T-wave alternans
OMIM:611819	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:611819	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:611819	PITX2	5308	HP:0005110	Atrial fibrillation
OMIM:611819	PITX2	5308	HP:0001678	Atrioventricular block
OMIM:611819	PITX2	5308	HP:0001645	Sudden cardiac death
OMIM:611819	PITX2	5308	HP:0012266	T-wave alternans
OMIM:611819	PITX2	5308	HP:0001657	Prolonged QT interval
OMIM:261515	EHHADH	1962	HP:0008872	Feeding difficulties in infancy
OMIM:261515	EHHADH	1962	HP:0000639	Nystagmus
OMIM:261515	EHHADH	1962	HP:0002007	Frontal bossing
OMIM:261515	EHHADH	1962	HP:0002171	Gliosis
OMIM:261515	EHHADH	1962	HP:0001171	Split hand
OMIM:261515	EHHADH	1962	HP:0002119	Ventriculomegaly
OMIM:261515	EHHADH	1962	HP:0000550	Undetectable electroretinogram
OMIM:261515	EHHADH	1962	HP:0000505	Visual impairment
OMIM:261515	EHHADH	1962	HP:0006872	Cerebral hypoplasia
OMIM:261515	EHHADH	1962	HP:0000316	Hypertelorism
OMIM:261515	EHHADH	1962	HP:0000767	Pectus excavatum
OMIM:261515	EHHADH	1962	HP:0000286	Epicanthus
OMIM:261515	EHHADH	1962	HP:0003593	Infantile onset
OMIM:261515	EHHADH	1962	HP:0005257	Thoracic hypoplasia
OMIM:261515	EHHADH	1962	HP:0001263	Global developmental delay
OMIM:261515	EHHADH	1962	HP:0002750	Delayed skeletal maturation
OMIM:261515	EHHADH	1962	HP:0002539	Cortical dysplasia
OMIM:261515	EHHADH	1962	HP:0005280	Depressed nasal bridge
OMIM:261515	EHHADH	1962	HP:0001508	Failure to thrive
OMIM:261515	EHHADH	1962	HP:0000369	Low-set ears
OMIM:261515	EHHADH	1962	HP:0000278	Retrognathia
OMIM:261515	EHHADH	1962	HP:0000343	Long philtrum
OMIM:261515	EHHADH	1962	HP:0000348	High forehead
OMIM:261515	EHHADH	1962	HP:0001762	Talipes equinovarus
OMIM:261515	EHHADH	1962	HP:0000107	Renal cyst
OMIM:261515	EHHADH	1962	HP:0000582	Upslanted palpebral fissure
OMIM:261515	EHHADH	1962	HP:0000762	Decreased nerve conduction velocity
OMIM:261515	EHHADH	1962	HP:0002240	Hepatomegaly
OMIM:261515	EHHADH	1962	HP:0008207	Primary adrenal insufficiency
OMIM:261515	EHHADH	1962	HP:0001396	Cholestasis
OMIM:261515	EHHADH	1962	HP:0001999	Abnormal facial shape
OMIM:261515	EHHADH	1962	HP:0000486	Strabismus
OMIM:261515	EHHADH	1962	HP:0001319	Neonatal hypotonia
OMIM:261515	EHHADH	1962	HP:0002079	Hypoplasia of the corpus callosum
OMIM:261515	EHHADH	1962	HP:0000347	Micrognathia
OMIM:261515	EHHADH	1962	HP:0002126	Polymicrogyria
OMIM:261515	EHHADH	1962	HP:0000007	Autosomal recessive inheritance
OMIM:261515	EHHADH	1962	HP:0001408	Bile duct proliferation
OMIM:261515	EHHADH	1962	HP:0000239	Large fontanelles
OMIM:261515	EHHADH	1962	HP:0000256	Macrocephaly
OMIM:261515	EHHADH	1962	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:261515	EHHADH	1962	HP:0001250	Seizures
OMIM:261515	EHHADH	1962	HP:0001765	Hammertoe
OMIM:261515	EHHADH	1962	HP:0000218	High palate
OMIM:261515	EHHADH	1962	HP:0000572	Visual loss
OMIM:261515	EHHADH	1962	HP:0000268	Dolichocephaly
OMIM:261515	EHHADH	1962	HP:0001397	Hepatic steatosis
OMIM:261515	EHHADH	1962	HP:0000270	Delayed cranial suture closure
OMIM:261515	EHHADH	1962	HP:0000938	Osteopenia
OMIM:261515	EHHADH	1962	HP:0002910	Elevated hepatic transaminases
OMIM:261515	EHHADH	1962	HP:0001561	Polyhydramnios
OMIM:261515	HSD17B4	3295	HP:0008872	Feeding difficulties in infancy
OMIM:261515	HSD17B4	3295	HP:0000639	Nystagmus
OMIM:261515	HSD17B4	3295	HP:0002007	Frontal bossing
OMIM:261515	HSD17B4	3295	HP:0002171	Gliosis
OMIM:261515	HSD17B4	3295	HP:0001171	Split hand
OMIM:261515	HSD17B4	3295	HP:0002119	Ventriculomegaly
OMIM:261515	HSD17B4	3295	HP:0000550	Undetectable electroretinogram
OMIM:261515	HSD17B4	3295	HP:0000505	Visual impairment
OMIM:261515	HSD17B4	3295	HP:0006872	Cerebral hypoplasia
OMIM:261515	HSD17B4	3295	HP:0000316	Hypertelorism
OMIM:261515	HSD17B4	3295	HP:0000767	Pectus excavatum
OMIM:261515	HSD17B4	3295	HP:0000286	Epicanthus
OMIM:261515	HSD17B4	3295	HP:0003593	Infantile onset
OMIM:261515	HSD17B4	3295	HP:0005257	Thoracic hypoplasia
OMIM:261515	HSD17B4	3295	HP:0001263	Global developmental delay
OMIM:261515	HSD17B4	3295	HP:0002750	Delayed skeletal maturation
OMIM:261515	HSD17B4	3295	HP:0002539	Cortical dysplasia
OMIM:261515	HSD17B4	3295	HP:0005280	Depressed nasal bridge
OMIM:261515	HSD17B4	3295	HP:0001508	Failure to thrive
OMIM:261515	HSD17B4	3295	HP:0000369	Low-set ears
OMIM:261515	HSD17B4	3295	HP:0000278	Retrognathia
OMIM:261515	HSD17B4	3295	HP:0000343	Long philtrum
OMIM:261515	HSD17B4	3295	HP:0000348	High forehead
OMIM:261515	HSD17B4	3295	HP:0001762	Talipes equinovarus
OMIM:261515	HSD17B4	3295	HP:0000107	Renal cyst
OMIM:261515	HSD17B4	3295	HP:0000582	Upslanted palpebral fissure
OMIM:261515	HSD17B4	3295	HP:0000762	Decreased nerve conduction velocity
OMIM:261515	HSD17B4	3295	HP:0002240	Hepatomegaly
OMIM:261515	HSD17B4	3295	HP:0008207	Primary adrenal insufficiency
OMIM:261515	HSD17B4	3295	HP:0001396	Cholestasis
OMIM:261515	HSD17B4	3295	HP:0001999	Abnormal facial shape
OMIM:261515	HSD17B4	3295	HP:0000486	Strabismus
OMIM:261515	HSD17B4	3295	HP:0001319	Neonatal hypotonia
OMIM:261515	HSD17B4	3295	HP:0002079	Hypoplasia of the corpus callosum
OMIM:261515	HSD17B4	3295	HP:0000347	Micrognathia
OMIM:261515	HSD17B4	3295	HP:0002126	Polymicrogyria
OMIM:261515	HSD17B4	3295	HP:0000007	Autosomal recessive inheritance
OMIM:261515	HSD17B4	3295	HP:0001408	Bile duct proliferation
OMIM:261515	HSD17B4	3295	HP:0000239	Large fontanelles
OMIM:261515	HSD17B4	3295	HP:0000256	Macrocephaly
OMIM:261515	HSD17B4	3295	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:261515	HSD17B4	3295	HP:0001250	Seizures
OMIM:261515	HSD17B4	3295	HP:0001765	Hammertoe
OMIM:261515	HSD17B4	3295	HP:0000218	High palate
OMIM:261515	HSD17B4	3295	HP:0000572	Visual loss
OMIM:261515	HSD17B4	3295	HP:0000268	Dolichocephaly
OMIM:261515	HSD17B4	3295	HP:0001397	Hepatic steatosis
OMIM:261515	HSD17B4	3295	HP:0000270	Delayed cranial suture closure
OMIM:261515	HSD17B4	3295	HP:0000938	Osteopenia
OMIM:261515	HSD17B4	3295	HP:0002910	Elevated hepatic transaminases
OMIM:261515	HSD17B4	3295	HP:0001561	Polyhydramnios
OMIM:613097	IRF6	3664	HP:0004322	Short stature
OMIM:613097	IRF6	3664	HP:0000007	Autosomal recessive inheritance
OMIM:613097	IRF6	3664	HP:0001592	Selective tooth agenesis
OMIM:613097	IRF6	3664	HP:0011001	Increased bone mineral density
OMIM:613097	EDARADD	128178	HP:0004322	Short stature
OMIM:613097	EDARADD	128178	HP:0000007	Autosomal recessive inheritance
OMIM:613097	EDARADD	128178	HP:0001592	Selective tooth agenesis
OMIM:613097	EDARADD	128178	HP:0011001	Increased bone mineral density
OMIM:613097	FGFR1	2260	HP:0004322	Short stature
OMIM:613097	FGFR1	2260	HP:0000007	Autosomal recessive inheritance
OMIM:613097	FGFR1	2260	HP:0001592	Selective tooth agenesis
OMIM:613097	FGFR1	2260	HP:0011001	Increased bone mineral density
OMIM:613097	LTBP3	4054	HP:0004322	Short stature
OMIM:613097	LTBP3	4054	HP:0000007	Autosomal recessive inheritance
OMIM:613097	LTBP3	4054	HP:0001592	Selective tooth agenesis
OMIM:613097	LTBP3	4054	HP:0011001	Increased bone mineral density
OMIM:613097	WNT10A	80326	HP:0004322	Short stature
OMIM:613097	WNT10A	80326	HP:0000007	Autosomal recessive inheritance
OMIM:613097	WNT10A	80326	HP:0001592	Selective tooth agenesis
OMIM:613097	WNT10A	80326	HP:0011001	Increased bone mineral density
OMIM:613097	MSX1	4487	HP:0004322	Short stature
OMIM:613097	MSX1	4487	HP:0000007	Autosomal recessive inheritance
OMIM:613097	MSX1	4487	HP:0001592	Selective tooth agenesis
OMIM:613097	MSX1	4487	HP:0011001	Increased bone mineral density
OMIM:613097	EDA	1896	HP:0004322	Short stature
OMIM:613097	EDA	1896	HP:0000007	Autosomal recessive inheritance
OMIM:613097	EDA	1896	HP:0001592	Selective tooth agenesis
OMIM:613097	EDA	1896	HP:0011001	Increased bone mineral density
OMIM:613097	LRP6	4040	HP:0004322	Short stature
OMIM:613097	LRP6	4040	HP:0000007	Autosomal recessive inheritance
OMIM:613097	LRP6	4040	HP:0001592	Selective tooth agenesis
OMIM:613097	LRP6	4040	HP:0011001	Increased bone mineral density
OMIM:613097	AXIN2	8313	HP:0004322	Short stature
OMIM:613097	AXIN2	8313	HP:0000007	Autosomal recessive inheritance
OMIM:613097	AXIN2	8313	HP:0001592	Selective tooth agenesis
OMIM:613097	AXIN2	8313	HP:0011001	Increased bone mineral density
OMIM:613097	PAX9	5083	HP:0004322	Short stature
OMIM:613097	PAX9	5083	HP:0000007	Autosomal recessive inheritance
OMIM:613097	PAX9	5083	HP:0001592	Selective tooth agenesis
OMIM:613097	PAX9	5083	HP:0011001	Increased bone mineral density
OMIM:613097	TGFA	7039	HP:0004322	Short stature
OMIM:613097	TGFA	7039	HP:0000007	Autosomal recessive inheritance
OMIM:613097	TGFA	7039	HP:0001592	Selective tooth agenesis
OMIM:613097	TGFA	7039	HP:0011001	Increased bone mineral density
OMIM:221770	TREM2	54209	HP:0000708	Behavioral abnormality
OMIM:221770	TREM2	54209	HP:0001288	Gait disturbance
OMIM:221770	TREM2	54209	HP:0011096	Peripheral demyelination
OMIM:221770	TREM2	54209	HP:0010524	Agnosia
OMIM:221770	TREM2	54209	HP:0002072	Chorea
OMIM:221770	TREM2	54209	HP:0002352	Leukoencephalopathy
OMIM:221770	TREM2	54209	HP:0000718	Aggressive behavior
OMIM:221770	TREM2	54209	HP:0001336	Myoclonus
OMIM:221770	TREM2	54209	HP:0001250	Seizures
OMIM:221770	TREM2	54209	HP:0003487	Babinski sign
OMIM:221770	TREM2	54209	HP:0002171	Gliosis
OMIM:221770	TREM2	54209	HP:0002012	Abnormality of the abdominal organs
OMIM:221770	TREM2	54209	HP:0002514	Cerebral calcification
OMIM:221770	TREM2	54209	HP:0009124	Abnormality of adipose tissue
OMIM:221770	TREM2	54209	HP:0002135	Basal ganglia calcification
OMIM:221770	TREM2	54209	HP:0000657	Oculomotor apraxia
OMIM:221770	TREM2	54209	HP:0002059	Cerebral atrophy
OMIM:221770	TREM2	54209	HP:0000238	Hydrocephalus
OMIM:221770	TREM2	54209	HP:0002167	Neurological speech impairment
OMIM:221770	TREM2	54209	HP:0001760	Abnormality of the foot
OMIM:221770	TREM2	54209	HP:0002756	Pathologic fracture
OMIM:221770	TREM2	54209	HP:0002127	Abnormal upper motor neuron morphology
OMIM:221770	TREM2	54209	HP:0002488	Acute leukemia
OMIM:221770	TREM2	54209	HP:0004349	Reduced bone mineral density
OMIM:221770	TREM2	54209	HP:0000007	Autosomal recessive inheritance
OMIM:221770	TREM2	54209	HP:0001276	Hypertonia
OMIM:221770	TREM2	54209	HP:0002376	Developmental regression
OMIM:221770	TREM2	54209	HP:0001257	Spasticity
OMIM:221770	TREM2	54209	HP:0002829	Arthralgia
OMIM:221770	TREM2	54209	HP:0002079	Hypoplasia of the corpus callosum
OMIM:221770	TREM2	54209	HP:0002119	Ventriculomegaly
OMIM:221770	TREM2	54209	HP:0002120	Cerebral cortical atrophy
OMIM:221770	TREM2	54209	HP:0002186	Apraxia
OMIM:221770	TREM2	54209	HP:0002354	Memory impairment
OMIM:221770	TREM2	54209	HP:0001155	Abnormality of the hand
OMIM:221770	TREM2	54209	HP:0000020	Urinary incontinence
OMIM:221770	TREM2	54209	HP:0002353	EEG abnormality
OMIM:221770	TREM2	54209	HP:0001376	Limitation of joint mobility
OMIM:221770	TREM2	54209	HP:0002652	Skeletal dysplasia
OMIM:221770	TREM2	54209	HP:0002653	Bone pain
OMIM:221770	TREM2	54209	HP:0005930	Abnormality of epiphysis morphology
OMIM:221770	TYROBP	7305	HP:0000708	Behavioral abnormality
OMIM:221770	TYROBP	7305	HP:0001288	Gait disturbance
OMIM:221770	TYROBP	7305	HP:0011096	Peripheral demyelination
OMIM:221770	TYROBP	7305	HP:0010524	Agnosia
OMIM:221770	TYROBP	7305	HP:0002072	Chorea
OMIM:221770	TYROBP	7305	HP:0002352	Leukoencephalopathy
OMIM:221770	TYROBP	7305	HP:0000718	Aggressive behavior
OMIM:221770	TYROBP	7305	HP:0001336	Myoclonus
OMIM:221770	TYROBP	7305	HP:0001250	Seizures
OMIM:221770	TYROBP	7305	HP:0003487	Babinski sign
OMIM:221770	TYROBP	7305	HP:0002171	Gliosis
OMIM:221770	TYROBP	7305	HP:0002012	Abnormality of the abdominal organs
OMIM:221770	TYROBP	7305	HP:0002514	Cerebral calcification
OMIM:221770	TYROBP	7305	HP:0009124	Abnormality of adipose tissue
OMIM:221770	TYROBP	7305	HP:0002135	Basal ganglia calcification
OMIM:221770	TYROBP	7305	HP:0000657	Oculomotor apraxia
OMIM:221770	TYROBP	7305	HP:0002059	Cerebral atrophy
OMIM:221770	TYROBP	7305	HP:0000238	Hydrocephalus
OMIM:221770	TYROBP	7305	HP:0002167	Neurological speech impairment
OMIM:221770	TYROBP	7305	HP:0001760	Abnormality of the foot
OMIM:221770	TYROBP	7305	HP:0002756	Pathologic fracture
OMIM:221770	TYROBP	7305	HP:0002127	Abnormal upper motor neuron morphology
OMIM:221770	TYROBP	7305	HP:0002488	Acute leukemia
OMIM:221770	TYROBP	7305	HP:0004349	Reduced bone mineral density
OMIM:221770	TYROBP	7305	HP:0000007	Autosomal recessive inheritance
OMIM:221770	TYROBP	7305	HP:0001276	Hypertonia
OMIM:221770	TYROBP	7305	HP:0002376	Developmental regression
OMIM:221770	TYROBP	7305	HP:0001257	Spasticity
OMIM:221770	TYROBP	7305	HP:0002829	Arthralgia
OMIM:221770	TYROBP	7305	HP:0002079	Hypoplasia of the corpus callosum
OMIM:221770	TYROBP	7305	HP:0002119	Ventriculomegaly
OMIM:221770	TYROBP	7305	HP:0002120	Cerebral cortical atrophy
OMIM:221770	TYROBP	7305	HP:0002186	Apraxia
OMIM:221770	TYROBP	7305	HP:0002354	Memory impairment
OMIM:221770	TYROBP	7305	HP:0001155	Abnormality of the hand
OMIM:221770	TYROBP	7305	HP:0000020	Urinary incontinence
OMIM:221770	TYROBP	7305	HP:0002353	EEG abnormality
OMIM:221770	TYROBP	7305	HP:0001376	Limitation of joint mobility
OMIM:221770	TYROBP	7305	HP:0002652	Skeletal dysplasia
OMIM:221770	TYROBP	7305	HP:0002653	Bone pain
OMIM:221770	TYROBP	7305	HP:0005930	Abnormality of epiphysis morphology
OMIM:614224	IGFBP7	3490	HP:0000007	Autosomal recessive inheritance
OMIM:614224	IGFBP7	3490	HP:0001642	Pulmonic stenosis
OMIM:615539	DSE	29940	HP:0001181	Adducted thumb
OMIM:615539	DSE	29940	HP:0001166	Arachnodactyly
OMIM:615539	DSE	29940	HP:0000411	Protruding ear
OMIM:615539	DSE	29940	HP:0000007	Autosomal recessive inheritance
OMIM:615539	DSE	29940	HP:0000506	Telecanthus
OMIM:615539	DSE	29940	HP:0002007	Frontal bossing
OMIM:615539	DSE	29940	HP:0000023	Inguinal hernia
OMIM:615539	DSE	29940	HP:0000218	High palate
OMIM:615539	DSE	29940	HP:0000678	Dental crowding
OMIM:615539	DSE	29940	HP:0001762	Talipes equinovarus
OMIM:615539	DSE	29940	HP:0003324	Generalized muscle weakness
OMIM:615539	DSE	29940	HP:0000248	Brachycephaly
OMIM:615539	DSE	29940	HP:0001655	Patent foramen ovale
OMIM:615539	DSE	29940	HP:0000494	Downslanted palpebral fissures
OMIM:615539	DSE	29940	HP:0000592	Blue sclerae
OMIM:615539	DSE	29940	HP:0002194	Delayed gross motor development
OMIM:615539	CHST14	113189	HP:0001181	Adducted thumb
OMIM:615539	CHST14	113189	HP:0001166	Arachnodactyly
OMIM:615539	CHST14	113189	HP:0000411	Protruding ear
OMIM:615539	CHST14	113189	HP:0000007	Autosomal recessive inheritance
OMIM:615539	CHST14	113189	HP:0000506	Telecanthus
OMIM:615539	CHST14	113189	HP:0002007	Frontal bossing
OMIM:615539	CHST14	113189	HP:0000023	Inguinal hernia
OMIM:615539	CHST14	113189	HP:0000218	High palate
OMIM:615539	CHST14	113189	HP:0000678	Dental crowding
OMIM:615539	CHST14	113189	HP:0001762	Talipes equinovarus
OMIM:615539	CHST14	113189	HP:0003324	Generalized muscle weakness
OMIM:615539	CHST14	113189	HP:0000248	Brachycephaly
OMIM:615539	CHST14	113189	HP:0001655	Patent foramen ovale
OMIM:615539	CHST14	113189	HP:0000494	Downslanted palpebral fissures
OMIM:615539	CHST14	113189	HP:0000592	Blue sclerae
OMIM:615539	CHST14	113189	HP:0002194	Delayed gross motor development
OMIM:151660	LMNA	4000	HP:0100658	Cellulitis
OMIM:151660	LMNA	4000	HP:0001007	Hirsutism
OMIM:151660	LMNA	4000	HP:0003712	Skeletal muscle hypertrophy
OMIM:151660	LMNA	4000	HP:0003233	Hypoalphalipoproteinemia
OMIM:151660	LMNA	4000	HP:0002155	Hypertriglyceridemia
OMIM:151660	LMNA	4000	HP:0003074	Hyperglycemia
OMIM:151660	LMNA	4000	HP:0001744	Splenomegaly
OMIM:151660	LMNA	4000	HP:0006288	Advanced eruption of teeth
OMIM:151660	LMNA	4000	HP:0000998	Hypertrichosis
OMIM:151660	LMNA	4000	HP:0003326	Myalgia
OMIM:151660	LMNA	4000	HP:0008887	Adipose tissue loss
OMIM:151660	LMNA	4000	HP:0005339	Abnormality of complement system
OMIM:151660	LMNA	4000	HP:0002240	Hepatomegaly
OMIM:151660	LMNA	4000	HP:0001597	Abnormality of the nail
OMIM:151660	LMNA	4000	HP:0001397	Hepatic steatosis
OMIM:151660	LMNA	4000	HP:0000311	Round face
OMIM:151660	LMNA	4000	HP:0000869	Secondary amenorrhea
OMIM:151660	LMNA	4000	HP:0000819	Diabetes mellitus
OMIM:151660	LMNA	4000	HP:0100578	Lipoatrophy
OMIM:151660	LMNA	4000	HP:0000956	Acanthosis nigricans
OMIM:151660	LMNA	4000	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:151660	LMNA	4000	HP:0100603	Toxemia of pregnancy
OMIM:151660	LMNA	4000	HP:0000963	Thin skin
OMIM:151660	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:151660	LMNA	4000	HP:0003198	Myopathy
OMIM:151660	LMNA	4000	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:151660	LMNA	4000	HP:0006824	Cranial nerve paralysis
OMIM:151660	LMNA	4000	HP:0000842	Hyperinsulinemia
OMIM:151660	LMNA	4000	HP:0001002	Decreased subcutaneous fat
OMIM:151660	LMNA	4000	HP:0001639	Hypertrophic cardiomyopathy
OMIM:151660	LMNA	4000	HP:0000147	Polycystic ovaries
OMIM:151660	LMNA	4000	HP:0000991	Xanthomatosis
OMIM:151660	LMNA	4000	HP:0001677	Coronary artery disease
OMIM:151660	LMNA	4000	HP:0000855	Insulin resistance
OMIM:151660	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:151660	LMNA	4000	HP:0002621	Atherosclerosis
OMIM:151660	LMNA	4000	HP:0001015	Prominent superficial veins
OMIM:151660	LMNA	4000	HP:0003119	Abnormality of lipid metabolism
OMIM:151660	LMNA	4000	HP:0000822	Hypertension
OMIM:262890	ANO6	196527	HP:0000007	Autosomal recessive inheritance
OMIM:262890	ANO6	196527	HP:0001892	Abnormal bleeding
OMIM:606864	SDHB	6390	HP:0000365	Hearing impairment
OMIM:606864	SDHB	6390	HP:0002027	Abdominal pain
OMIM:606864	SDHB	6390	HP:0008872	Feeding difficulties in infancy
OMIM:606864	SDHB	6390	HP:0000360	Tinnitus
OMIM:606864	SDHB	6390	HP:0006824	Cranial nerve paralysis
OMIM:606864	SDHB	6390	HP:0006753	Neoplasm of the stomach
OMIM:606864	SDHB	6390	HP:0002239	Gastrointestinal hemorrhage
OMIM:606864	SDHB	6390	HP:0005214	Intestinal obstruction
OMIM:606864	SDHB	6390	HP:0100242	Sarcoma
OMIM:606864	SDHC	6391	HP:0000365	Hearing impairment
OMIM:606864	SDHC	6391	HP:0002027	Abdominal pain
OMIM:606864	SDHC	6391	HP:0008872	Feeding difficulties in infancy
OMIM:606864	SDHC	6391	HP:0000360	Tinnitus
OMIM:606864	SDHC	6391	HP:0006824	Cranial nerve paralysis
OMIM:606864	SDHC	6391	HP:0006753	Neoplasm of the stomach
OMIM:606864	SDHC	6391	HP:0002239	Gastrointestinal hemorrhage
OMIM:606864	SDHC	6391	HP:0005214	Intestinal obstruction
OMIM:606864	SDHC	6391	HP:0100242	Sarcoma
OMIM:606864	SDHD	6392	HP:0000365	Hearing impairment
OMIM:606864	SDHD	6392	HP:0002027	Abdominal pain
OMIM:606864	SDHD	6392	HP:0008872	Feeding difficulties in infancy
OMIM:606864	SDHD	6392	HP:0000360	Tinnitus
OMIM:606864	SDHD	6392	HP:0006824	Cranial nerve paralysis
OMIM:606864	SDHD	6392	HP:0006753	Neoplasm of the stomach
OMIM:606864	SDHD	6392	HP:0002239	Gastrointestinal hemorrhage
OMIM:606864	SDHD	6392	HP:0005214	Intestinal obstruction
OMIM:606864	SDHD	6392	HP:0100242	Sarcoma
OMIM:609823	MSRB3	253827	HP:0003593	Infantile onset
OMIM:609823	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:609823	MSRB3	253827	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	BSND	7809	HP:0003593	Infantile onset
OMIM:609823	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:609823	BSND	7809	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	ESPN	83715	HP:0003593	Infantile onset
OMIM:609823	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:609823	ESPN	83715	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	DFNB31	25861	HP:0003593	Infantile onset
OMIM:609823	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:609823	DFNB31	25861	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	OTOA	146183	HP:0003593	Infantile onset
OMIM:609823	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:609823	OTOA	146183	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	GJA1	2697	HP:0003593	Infantile onset
OMIM:609823	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:609823	GJA1	2697	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	MET	4233	HP:0003593	Infantile onset
OMIM:609823	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:609823	MET	4233	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	CLDN14	23562	HP:0003593	Infantile onset
OMIM:609823	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:609823	CLDN14	23562	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	HGF	3082	HP:0003593	Infantile onset
OMIM:609823	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:609823	HGF	3082	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	PNPT1	87178	HP:0003593	Infantile onset
OMIM:609823	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:609823	PNPT1	87178	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	EPS8	2059	HP:0003593	Infantile onset
OMIM:609823	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:609823	EPS8	2059	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	MYO3A	53904	HP:0003593	Infantile onset
OMIM:609823	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:609823	MYO3A	53904	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	DCDC2	51473	HP:0003593	Infantile onset
OMIM:609823	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:609823	DCDC2	51473	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	GJB2	2706	HP:0003593	Infantile onset
OMIM:609823	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:609823	GJB2	2706	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	GJB3	2707	HP:0003593	Infantile onset
OMIM:609823	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:609823	GJB3	2707	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	CABP2	51475	HP:0003593	Infantile onset
OMIM:609823	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:609823	CABP2	51475	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	GRXCR2	643226	HP:0003593	Infantile onset
OMIM:609823	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:609823	GRXCR2	643226	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	SERPINB6	5269	HP:0003593	Infantile onset
OMIM:609823	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:609823	SERPINB6	5269	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	COL11A2	1302	HP:0003593	Infantile onset
OMIM:609823	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:609823	COL11A2	1302	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	CIB2	10518	HP:0003593	Infantile onset
OMIM:609823	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:609823	CIB2	10518	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	FAM65B	9750	HP:0003593	Infantile onset
OMIM:609823	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:609823	FAM65B	9750	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	KARS	3735	HP:0003593	Infantile onset
OMIM:609823	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:609823	KARS	3735	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	LOXHD1	125336	HP:0003593	Infantile onset
OMIM:609823	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:609823	LOXHD1	125336	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	TMC1	117531	HP:0003593	Infantile onset
OMIM:609823	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:609823	TMC1	117531	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	CLIC5	53405	HP:0003593	Infantile onset
OMIM:609823	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:609823	CLIC5	53405	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	OTOF	9381	HP:0003593	Infantile onset
OMIM:609823	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:609823	OTOF	9381	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	MYO6	4646	HP:0003593	Infantile onset
OMIM:609823	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:609823	MYO6	4646	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	TMIE	259236	HP:0003593	Infantile onset
OMIM:609823	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:609823	TMIE	259236	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	MYO7A	4647	HP:0003593	Infantile onset
OMIM:609823	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:609823	MYO7A	4647	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	LRTOMT	220074	HP:0003593	Infantile onset
OMIM:609823	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:609823	LRTOMT	220074	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	OTOGL	283310	HP:0003593	Infantile onset
OMIM:609823	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:609823	OTOGL	283310	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	TPRN	286262	HP:0003593	Infantile onset
OMIM:609823	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:609823	TPRN	286262	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	SLC26A4	5172	HP:0003593	Infantile onset
OMIM:609823	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:609823	SLC26A4	5172	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	GJB6	10804	HP:0003593	Infantile onset
OMIM:609823	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:609823	GJB6	10804	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	DFNB59	494513	HP:0003593	Infantile onset
OMIM:609823	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:609823	DFNB59	494513	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	ESRRB	2103	HP:0003593	Infantile onset
OMIM:609823	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:609823	ESRRB	2103	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	TMPRSS3	64699	HP:0003593	Infantile onset
OMIM:609823	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:609823	TMPRSS3	64699	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	PTPRQ	374462	HP:0003593	Infantile onset
OMIM:609823	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:609823	PTPRQ	374462	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	SLC26A5	375611	HP:0003593	Infantile onset
OMIM:609823	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:609823	SLC26A5	375611	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	PCDH15	65217	HP:0003593	Infantile onset
OMIM:609823	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:609823	PCDH15	65217	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	TSPEAR	54084	HP:0003593	Infantile onset
OMIM:609823	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:609823	TSPEAR	54084	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	LHFPL5	222662	HP:0003593	Infantile onset
OMIM:609823	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:609823	LHFPL5	222662	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	TRIOBP	11078	HP:0003593	Infantile onset
OMIM:609823	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:609823	TRIOBP	11078	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	CDH23	64072	HP:0003593	Infantile onset
OMIM:609823	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:609823	CDH23	64072	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	RDX	5962	HP:0003593	Infantile onset
OMIM:609823	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:609823	RDX	5962	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	GPSM2	29899	HP:0003593	Infantile onset
OMIM:609823	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:609823	GPSM2	29899	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	ELMOD3	84173	HP:0003593	Infantile onset
OMIM:609823	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:609823	ELMOD3	84173	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	ILDR1	286676	HP:0003593	Infantile onset
OMIM:609823	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:609823	ILDR1	286676	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	GRXCR1	389207	HP:0003593	Infantile onset
OMIM:609823	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:609823	GRXCR1	389207	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	MARVELD2	153562	HP:0003593	Infantile onset
OMIM:609823	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:609823	MARVELD2	153562	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	STRC	161497	HP:0003593	Infantile onset
OMIM:609823	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:609823	STRC	161497	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	SLITRK6	84189	HP:0003593	Infantile onset
OMIM:609823	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:609823	SLITRK6	84189	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	TECTA	7007	HP:0003593	Infantile onset
OMIM:609823	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:609823	TECTA	7007	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	MYO15A	51168	HP:0003593	Infantile onset
OMIM:609823	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:609823	MYO15A	51168	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	USH1C	10083	HP:0003593	Infantile onset
OMIM:609823	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:609823	USH1C	10083	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	ADCY1	107	HP:0003593	Infantile onset
OMIM:609823	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:609823	ADCY1	107	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	SYNE4	163183	HP:0003593	Infantile onset
OMIM:609823	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:609823	SYNE4	163183	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	GIPC3	126326	HP:0003593	Infantile onset
OMIM:609823	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:609823	GIPC3	126326	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	TBC1D24	57465	HP:0003593	Infantile onset
OMIM:609823	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:609823	TBC1D24	57465	HP:0008625	Severe sensorineural hearing impairment
OMIM:609823	OTOG	340990	HP:0003593	Infantile onset
OMIM:609823	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:609823	OTOG	340990	HP:0008625	Severe sensorineural hearing impairment
OMIM:234820	NAB2	4665	HP:0000007	Autosomal recessive inheritance
OMIM:234820	NAB2	4665	HP:0001626	Abnormality of the cardiovascular system
OMIM:234820	STAT6	6778	HP:0000007	Autosomal recessive inheritance
OMIM:234820	STAT6	6778	HP:0001626	Abnormality of the cardiovascular system
OMIM:612067	PRKRA	8575	HP:0000007	Autosomal recessive inheritance
OMIM:612067	PRKRA	8575	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:612067	PRKRA	8575	HP:0000750	Delayed speech and language development
OMIM:612067	PRKRA	8575	HP:0100543	Cognitive impairment
OMIM:612067	PRKRA	8575	HP:0001288	Gait disturbance
OMIM:612067	PRKRA	8575	HP:0007256	Abnormal pyramidal signs
OMIM:612067	PRKRA	8575	HP:0001270	Motor delay
OMIM:612067	PRKRA	8575	HP:0004305	Involuntary movements
OMIM:612067	PRKRA	8575	HP:0002015	Dysphagia
OMIM:612067	PRKRA	8575	HP:0002451	Limb dystonia
OMIM:612067	PRKRA	8575	HP:0001347	Hyperreflexia
OMIM:612067	PRKRA	8575	HP:0001300	Parkinsonism
OMIM:612067	PRKRA	8575	HP:0003676	Progressive
OMIM:612067	PRKRA	8575	HP:0002067	Bradykinesia
OMIM:612067	PRKRA	8575	HP:0001260	Dysarthria
OMIM:616411	COL6A3	1293	HP:0002356	Writer's cramp
OMIM:616033	TRMT10A	93587	HP:0001249	Intellectual disability
OMIM:616033	TRMT10A	93587	HP:0001388	Joint laxity
OMIM:616033	TRMT10A	93587	HP:0000470	Short neck
OMIM:616033	TRMT10A	93587	HP:0000786	Primary amenorrhea
OMIM:616033	TRMT10A	93587	HP:0002650	Scoliosis
OMIM:616033	TRMT10A	93587	HP:0004322	Short stature
OMIM:616033	TRMT10A	93587	HP:0000445	Wide nose
OMIM:616033	TRMT10A	93587	HP:0000252	Microcephaly
OMIM:616033	TRMT10A	93587	HP:0000939	Osteoporosis
OMIM:616033	TRMT10A	93587	HP:0001270	Motor delay
OMIM:204300	CLN6	54982	HP:0003581	Adult onset
OMIM:204300	CLN6	54982	HP:0002059	Cerebral atrophy
OMIM:204300	CLN6	54982	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:204300	CLN6	54982	HP:0002352	Leukoencephalopathy
OMIM:204300	CLN6	54982	HP:0000007	Autosomal recessive inheritance
OMIM:204300	CLN6	54982	HP:0001250	Seizures
OMIM:204300	CLN6	54982	HP:0001336	Myoclonus
OMIM:204300	CLN6	54982	HP:0002367	Visual hallucinations
OMIM:204300	CLN6	54982	HP:0000726	Dementia
OMIM:204300	CLN6	54982	HP:0000716	Depression
OMIM:204300	CLN6	54982	HP:0001251	Ataxia
OMIM:616095	SLC16A1	6566	HP:0001993	Ketoacidosis
OMIM:616095	SLC16A1	6566	HP:0011968	Feeding difficulties
OMIM:607681	CACNA1H	8912	HP:0000006	Autosomal dominant inheritance
OMIM:607681	CACNA1H	8912	HP:0002373	Febrile seizures
OMIM:607681	CACNA1H	8912	HP:0002121	Absence seizures
OMIM:607681	CACNA1H	8912	HP:0002392	EEG with polyspike wave complexes
OMIM:607681	CACNA1H	8912	HP:0002069	Generalized tonic-clonic seizures
OMIM:607681	CACNA1H	8912	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:607681	CACNA1H	8912	HP:0011463	Childhood onset
OMIM:607681	SLC2A1	6513	HP:0000006	Autosomal dominant inheritance
OMIM:607681	SLC2A1	6513	HP:0002373	Febrile seizures
OMIM:607681	SLC2A1	6513	HP:0002121	Absence seizures
OMIM:607681	SLC2A1	6513	HP:0002392	EEG with polyspike wave complexes
OMIM:607681	SLC2A1	6513	HP:0002069	Generalized tonic-clonic seizures
OMIM:607681	SLC2A1	6513	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:607681	SLC2A1	6513	HP:0011463	Childhood onset
OMIM:607681	GABRB3	2562	HP:0000006	Autosomal dominant inheritance
OMIM:607681	GABRB3	2562	HP:0002373	Febrile seizures
OMIM:607681	GABRB3	2562	HP:0002121	Absence seizures
OMIM:607681	GABRB3	2562	HP:0002392	EEG with polyspike wave complexes
OMIM:607681	GABRB3	2562	HP:0002069	Generalized tonic-clonic seizures
OMIM:607681	GABRB3	2562	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:607681	GABRB3	2562	HP:0011463	Childhood onset
OMIM:607681	JRK	8629	HP:0000006	Autosomal dominant inheritance
OMIM:607681	JRK	8629	HP:0002373	Febrile seizures
OMIM:607681	JRK	8629	HP:0002121	Absence seizures
OMIM:607681	JRK	8629	HP:0002392	EEG with polyspike wave complexes
OMIM:607681	JRK	8629	HP:0002069	Generalized tonic-clonic seizures
OMIM:607681	JRK	8629	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:607681	JRK	8629	HP:0011463	Childhood onset
OMIM:607681	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:607681	GABRG2	2566	HP:0002373	Febrile seizures
OMIM:607681	GABRG2	2566	HP:0002121	Absence seizures
OMIM:607681	GABRG2	2566	HP:0002392	EEG with polyspike wave complexes
OMIM:607681	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:607681	GABRG2	2566	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:607681	GABRG2	2566	HP:0011463	Childhood onset
OMIM:607681	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:607681	GABRA1	2554	HP:0002373	Febrile seizures
OMIM:607681	GABRA1	2554	HP:0002121	Absence seizures
OMIM:607681	GABRA1	2554	HP:0002392	EEG with polyspike wave complexes
OMIM:607681	GABRA1	2554	HP:0002069	Generalized tonic-clonic seizures
OMIM:607681	GABRA1	2554	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:607681	GABRA1	2554	HP:0011463	Childhood onset
OMIM:601596	SH3TC2	79628	HP:0002460	Distal muscle weakness
OMIM:601596	SH3TC2	79628	HP:0003431	Decreased motor nerve conduction velocity
OMIM:601596	SH3TC2	79628	HP:0001761	Pes cavus
OMIM:601596	SH3TC2	79628	HP:0001308	Tongue fasciculations
OMIM:601596	SH3TC2	79628	HP:0003693	Distal amyotrophy
OMIM:601596	SH3TC2	79628	HP:0003812	Phenotypic variability
OMIM:601596	SH3TC2	79628	HP:0002650	Scoliosis
OMIM:601596	SH3TC2	79628	HP:0000007	Autosomal recessive inheritance
OMIM:601596	SH3TC2	79628	HP:0000365	Hearing impairment
OMIM:601596	SH3TC2	79628	HP:0010628	Facial palsy
OMIM:601596	SH3TC2	79628	HP:0012473	Tongue atrophy
OMIM:601596	SH3TC2	79628	HP:0002936	Distal sensory impairment
OMIM:601596	SH3TC2	79628	HP:0000639	Nystagmus
OMIM:601596	SH3TC2	79628	HP:0000764	Peripheral axonal degeneration
OMIM:601596	SH3TC2	79628	HP:0002355	Difficulty walking
OMIM:601596	SH3TC2	79628	HP:0001270	Motor delay
OMIM:122470	SMC1A	8243	HP:0004209	Clinodactyly of the 5th finger
OMIM:122470	SMC1A	8243	HP:0100716	Self-injurious behavior
OMIM:122470	SMC1A	8243	HP:0000453	Choanal atresia
OMIM:122470	SMC1A	8243	HP:0000588	Optic nerve coloboma
OMIM:122470	SMC1A	8243	HP:0000470	Short neck
OMIM:122470	SMC1A	8243	HP:0002714	Downturned corners of mouth
OMIM:122470	SMC1A	8243	HP:0002750	Delayed skeletal maturation
OMIM:122470	SMC1A	8243	HP:0000093	Proteinuria
OMIM:122470	SMC1A	8243	HP:0000879	Short sternum
OMIM:122470	SMC1A	8243	HP:0004691	2-3 toe syndactyly
OMIM:122470	SMC1A	8243	HP:0000369	Low-set ears
OMIM:122470	SMC1A	8243	HP:0002021	Pyloric stenosis
OMIM:122470	SMC1A	8243	HP:0000684	Delayed eruption of teeth
OMIM:122470	SMC1A	8243	HP:0000776	Congenital diaphragmatic hernia
OMIM:122470	SMC1A	8243	HP:0005280	Depressed nasal bridge
OMIM:122470	SMC1A	8243	HP:0000219	Thin upper lip vermilion
OMIM:122470	SMC1A	8243	HP:0000483	Astigmatism
OMIM:122470	SMC1A	8243	HP:0000954	Single transverse palmar crease
OMIM:122470	SMC1A	8243	HP:0000006	Autosomal dominant inheritance
OMIM:122470	SMC1A	8243	HP:0001873	Thrombocytopenia
OMIM:122470	SMC1A	8243	HP:0000248	Brachycephaly
OMIM:122470	SMC1A	8243	HP:0003812	Phenotypic variability
OMIM:122470	SMC1A	8243	HP:0000648	Optic atrophy
OMIM:122470	SMC1A	8243	HP:0002162	Low posterior hairline
OMIM:122470	SMC1A	8243	HP:0003083	Dislocated radial head
OMIM:122470	SMC1A	8243	HP:0009623	Proximal placement of thumb
OMIM:122470	SMC1A	8243	HP:0000405	Conductive hearing impairment
OMIM:122470	SMC1A	8243	HP:0001249	Intellectual disability
OMIM:122470	SMC1A	8243	HP:0000218	High palate
OMIM:122470	SMC1A	8243	HP:0000527	Long eyelashes
OMIM:122470	SMC1A	8243	HP:0003745	Sporadic
OMIM:122470	SMC1A	8243	HP:0000545	Myopia
OMIM:122470	SMC1A	8243	HP:0001511	Intrauterine growth retardation
OMIM:122470	SMC1A	8243	HP:0000508	Ptosis
OMIM:122470	SMC1A	8243	HP:0000343	Long philtrum
OMIM:122470	SMC1A	8243	HP:0000639	Nystagmus
OMIM:122470	SMC1A	8243	HP:0000089	Renal hypoplasia
OMIM:122470	SMC1A	8243	HP:0000687	Widely spaced teeth
OMIM:122470	SMC1A	8243	HP:0001250	Seizures
OMIM:122470	SMC1A	8243	HP:0000028	Cryptorchidism
OMIM:122470	SMC1A	8243	HP:0002020	Gastroesophageal reflux
OMIM:122470	SMC1A	8243	HP:0000347	Micrognathia
OMIM:122470	SMC1A	8243	HP:0000023	Inguinal hernia
OMIM:122470	SMC1A	8243	HP:0000750	Delayed speech and language development
OMIM:122470	SMC1A	8243	HP:0001629	Ventricular septal defect
OMIM:122470	SMC1A	8243	HP:0000086	Ectopic kidney
OMIM:122470	SMC1A	8243	HP:0001551	Abnormality of the umbilicus
OMIM:122470	SMC1A	8243	HP:0001007	Hirsutism
OMIM:122470	SMC1A	8243	HP:0000204	Cleft upper lip
OMIM:122470	SMC1A	8243	HP:0000047	Hypospadias
OMIM:122470	SMC1A	8243	HP:0000482	Microcornea
OMIM:122470	SMC1A	8243	HP:0002984	Hypoplasia of the radius
OMIM:122470	SMC1A	8243	HP:0000407	Sensorineural hearing impairment
OMIM:122470	SMC1A	8243	HP:0000664	Synophrys
OMIM:122470	SMC1A	8243	HP:0000708	Behavioral abnormality
OMIM:122470	SMC1A	8243	HP:0000076	Vesicoureteral reflux
OMIM:122470	SMC1A	8243	HP:0000520	Proptosis
OMIM:122470	SMC1A	8243	HP:0002090	Pneumonia
OMIM:122470	SMC1A	8243	HP:0000463	Anteverted nares
OMIM:122470	SMC1A	8243	HP:0001276	Hypertonia
OMIM:122470	SMC1A	8243	HP:0002553	Highly arched eyebrow
OMIM:122470	SMC1A	8243	HP:0000486	Strabismus
OMIM:122470	SMC1A	8243	HP:0000965	Cutis marmorata
OMIM:122470	SMC1A	8243	HP:0000107	Renal cyst
OMIM:122470	SMC1A	8243	HP:0004322	Short stature
OMIM:122470	SMC1A	8243	HP:0000050	Hypoplastic male external genitalia
OMIM:122470	SMC1A	8243	HP:0000252	Microcephaly
OMIM:122470	SMC1A	8243	HP:0002987	Elbow flexion contracture
OMIM:122470	SMC1A	8243	HP:0002983	Micromelia
OMIM:122470	SMC1A	8243	HP:0000175	Cleft palate
OMIM:122470	SMC1A	8243	HP:0002557	Hypoplastic nipples
OMIM:122470	SMC3	9126	HP:0004209	Clinodactyly of the 5th finger
OMIM:122470	SMC3	9126	HP:0100716	Self-injurious behavior
OMIM:122470	SMC3	9126	HP:0000453	Choanal atresia
OMIM:122470	SMC3	9126	HP:0000588	Optic nerve coloboma
OMIM:122470	SMC3	9126	HP:0000470	Short neck
OMIM:122470	SMC3	9126	HP:0002714	Downturned corners of mouth
OMIM:122470	SMC3	9126	HP:0002750	Delayed skeletal maturation
OMIM:122470	SMC3	9126	HP:0000093	Proteinuria
OMIM:122470	SMC3	9126	HP:0000879	Short sternum
OMIM:122470	SMC3	9126	HP:0004691	2-3 toe syndactyly
OMIM:122470	SMC3	9126	HP:0000369	Low-set ears
OMIM:122470	SMC3	9126	HP:0002021	Pyloric stenosis
OMIM:122470	SMC3	9126	HP:0000684	Delayed eruption of teeth
OMIM:122470	SMC3	9126	HP:0000776	Congenital diaphragmatic hernia
OMIM:122470	SMC3	9126	HP:0005280	Depressed nasal bridge
OMIM:122470	SMC3	9126	HP:0000219	Thin upper lip vermilion
OMIM:122470	SMC3	9126	HP:0000483	Astigmatism
OMIM:122470	SMC3	9126	HP:0000954	Single transverse palmar crease
OMIM:122470	SMC3	9126	HP:0000006	Autosomal dominant inheritance
OMIM:122470	SMC3	9126	HP:0001873	Thrombocytopenia
OMIM:122470	SMC3	9126	HP:0000248	Brachycephaly
OMIM:122470	SMC3	9126	HP:0003812	Phenotypic variability
OMIM:122470	SMC3	9126	HP:0000648	Optic atrophy
OMIM:122470	SMC3	9126	HP:0002162	Low posterior hairline
OMIM:122470	SMC3	9126	HP:0003083	Dislocated radial head
OMIM:122470	SMC3	9126	HP:0009623	Proximal placement of thumb
OMIM:122470	SMC3	9126	HP:0000405	Conductive hearing impairment
OMIM:122470	SMC3	9126	HP:0001249	Intellectual disability
OMIM:122470	SMC3	9126	HP:0000218	High palate
OMIM:122470	SMC3	9126	HP:0000527	Long eyelashes
OMIM:122470	SMC3	9126	HP:0003745	Sporadic
OMIM:122470	SMC3	9126	HP:0000545	Myopia
OMIM:122470	SMC3	9126	HP:0001511	Intrauterine growth retardation
OMIM:122470	SMC3	9126	HP:0000508	Ptosis
OMIM:122470	SMC3	9126	HP:0000343	Long philtrum
OMIM:122470	SMC3	9126	HP:0000639	Nystagmus
OMIM:122470	SMC3	9126	HP:0000089	Renal hypoplasia
OMIM:122470	SMC3	9126	HP:0000687	Widely spaced teeth
OMIM:122470	SMC3	9126	HP:0001250	Seizures
OMIM:122470	SMC3	9126	HP:0000028	Cryptorchidism
OMIM:122470	SMC3	9126	HP:0002020	Gastroesophageal reflux
OMIM:122470	SMC3	9126	HP:0000347	Micrognathia
OMIM:122470	SMC3	9126	HP:0000023	Inguinal hernia
OMIM:122470	SMC3	9126	HP:0000750	Delayed speech and language development
OMIM:122470	SMC3	9126	HP:0001629	Ventricular septal defect
OMIM:122470	SMC3	9126	HP:0000086	Ectopic kidney
OMIM:122470	SMC3	9126	HP:0001551	Abnormality of the umbilicus
OMIM:122470	SMC3	9126	HP:0001007	Hirsutism
OMIM:122470	SMC3	9126	HP:0000204	Cleft upper lip
OMIM:122470	SMC3	9126	HP:0000047	Hypospadias
OMIM:122470	SMC3	9126	HP:0000482	Microcornea
OMIM:122470	SMC3	9126	HP:0002984	Hypoplasia of the radius
OMIM:122470	SMC3	9126	HP:0000407	Sensorineural hearing impairment
OMIM:122470	SMC3	9126	HP:0000664	Synophrys
OMIM:122470	SMC3	9126	HP:0000708	Behavioral abnormality
OMIM:122470	SMC3	9126	HP:0000076	Vesicoureteral reflux
OMIM:122470	SMC3	9126	HP:0000520	Proptosis
OMIM:122470	SMC3	9126	HP:0002090	Pneumonia
OMIM:122470	SMC3	9126	HP:0000463	Anteverted nares
OMIM:122470	SMC3	9126	HP:0001276	Hypertonia
OMIM:122470	SMC3	9126	HP:0002553	Highly arched eyebrow
OMIM:122470	SMC3	9126	HP:0000486	Strabismus
OMIM:122470	SMC3	9126	HP:0000965	Cutis marmorata
OMIM:122470	SMC3	9126	HP:0000107	Renal cyst
OMIM:122470	SMC3	9126	HP:0004322	Short stature
OMIM:122470	SMC3	9126	HP:0000050	Hypoplastic male external genitalia
OMIM:122470	SMC3	9126	HP:0000252	Microcephaly
OMIM:122470	SMC3	9126	HP:0002987	Elbow flexion contracture
OMIM:122470	SMC3	9126	HP:0002983	Micromelia
OMIM:122470	SMC3	9126	HP:0000175	Cleft palate
OMIM:122470	SMC3	9126	HP:0002557	Hypoplastic nipples
OMIM:122470	NIPBL	25836	HP:0004209	Clinodactyly of the 5th finger
OMIM:122470	NIPBL	25836	HP:0100716	Self-injurious behavior
OMIM:122470	NIPBL	25836	HP:0000453	Choanal atresia
OMIM:122470	NIPBL	25836	HP:0000588	Optic nerve coloboma
OMIM:122470	NIPBL	25836	HP:0000470	Short neck
OMIM:122470	NIPBL	25836	HP:0002714	Downturned corners of mouth
OMIM:122470	NIPBL	25836	HP:0002750	Delayed skeletal maturation
OMIM:122470	NIPBL	25836	HP:0000093	Proteinuria
OMIM:122470	NIPBL	25836	HP:0000879	Short sternum
OMIM:122470	NIPBL	25836	HP:0004691	2-3 toe syndactyly
OMIM:122470	NIPBL	25836	HP:0000369	Low-set ears
OMIM:122470	NIPBL	25836	HP:0002021	Pyloric stenosis
OMIM:122470	NIPBL	25836	HP:0000684	Delayed eruption of teeth
OMIM:122470	NIPBL	25836	HP:0000776	Congenital diaphragmatic hernia
OMIM:122470	NIPBL	25836	HP:0005280	Depressed nasal bridge
OMIM:122470	NIPBL	25836	HP:0000219	Thin upper lip vermilion
OMIM:122470	NIPBL	25836	HP:0000483	Astigmatism
OMIM:122470	NIPBL	25836	HP:0000954	Single transverse palmar crease
OMIM:122470	NIPBL	25836	HP:0000006	Autosomal dominant inheritance
OMIM:122470	NIPBL	25836	HP:0001873	Thrombocytopenia
OMIM:122470	NIPBL	25836	HP:0000248	Brachycephaly
OMIM:122470	NIPBL	25836	HP:0003812	Phenotypic variability
OMIM:122470	NIPBL	25836	HP:0000648	Optic atrophy
OMIM:122470	NIPBL	25836	HP:0002162	Low posterior hairline
OMIM:122470	NIPBL	25836	HP:0003083	Dislocated radial head
OMIM:122470	NIPBL	25836	HP:0009623	Proximal placement of thumb
OMIM:122470	NIPBL	25836	HP:0000405	Conductive hearing impairment
OMIM:122470	NIPBL	25836	HP:0001249	Intellectual disability
OMIM:122470	NIPBL	25836	HP:0000218	High palate
OMIM:122470	NIPBL	25836	HP:0000527	Long eyelashes
OMIM:122470	NIPBL	25836	HP:0003745	Sporadic
OMIM:122470	NIPBL	25836	HP:0000545	Myopia
OMIM:122470	NIPBL	25836	HP:0001511	Intrauterine growth retardation
OMIM:122470	NIPBL	25836	HP:0000508	Ptosis
OMIM:122470	NIPBL	25836	HP:0000343	Long philtrum
OMIM:122470	NIPBL	25836	HP:0000639	Nystagmus
OMIM:122470	NIPBL	25836	HP:0000089	Renal hypoplasia
OMIM:122470	NIPBL	25836	HP:0000687	Widely spaced teeth
OMIM:122470	NIPBL	25836	HP:0001250	Seizures
OMIM:122470	NIPBL	25836	HP:0000028	Cryptorchidism
OMIM:122470	NIPBL	25836	HP:0002020	Gastroesophageal reflux
OMIM:122470	NIPBL	25836	HP:0000347	Micrognathia
OMIM:122470	NIPBL	25836	HP:0000023	Inguinal hernia
OMIM:122470	NIPBL	25836	HP:0000750	Delayed speech and language development
OMIM:122470	NIPBL	25836	HP:0001629	Ventricular septal defect
OMIM:122470	NIPBL	25836	HP:0000086	Ectopic kidney
OMIM:122470	NIPBL	25836	HP:0001551	Abnormality of the umbilicus
OMIM:122470	NIPBL	25836	HP:0001007	Hirsutism
OMIM:122470	NIPBL	25836	HP:0000204	Cleft upper lip
OMIM:122470	NIPBL	25836	HP:0000047	Hypospadias
OMIM:122470	NIPBL	25836	HP:0000482	Microcornea
OMIM:122470	NIPBL	25836	HP:0002984	Hypoplasia of the radius
OMIM:122470	NIPBL	25836	HP:0000407	Sensorineural hearing impairment
OMIM:122470	NIPBL	25836	HP:0000664	Synophrys
OMIM:122470	NIPBL	25836	HP:0000708	Behavioral abnormality
OMIM:122470	NIPBL	25836	HP:0000076	Vesicoureteral reflux
OMIM:122470	NIPBL	25836	HP:0000520	Proptosis
OMIM:122470	NIPBL	25836	HP:0002090	Pneumonia
OMIM:122470	NIPBL	25836	HP:0000463	Anteverted nares
OMIM:122470	NIPBL	25836	HP:0001276	Hypertonia
OMIM:122470	NIPBL	25836	HP:0002553	Highly arched eyebrow
OMIM:122470	NIPBL	25836	HP:0000486	Strabismus
OMIM:122470	NIPBL	25836	HP:0000965	Cutis marmorata
OMIM:122470	NIPBL	25836	HP:0000107	Renal cyst
OMIM:122470	NIPBL	25836	HP:0004322	Short stature
OMIM:122470	NIPBL	25836	HP:0000050	Hypoplastic male external genitalia
OMIM:122470	NIPBL	25836	HP:0000252	Microcephaly
OMIM:122470	NIPBL	25836	HP:0002987	Elbow flexion contracture
OMIM:122470	NIPBL	25836	HP:0002983	Micromelia
OMIM:122470	NIPBL	25836	HP:0000175	Cleft palate
OMIM:122470	NIPBL	25836	HP:0002557	Hypoplastic nipples
OMIM:122470	HDAC8	55869	HP:0004209	Clinodactyly of the 5th finger
OMIM:122470	HDAC8	55869	HP:0100716	Self-injurious behavior
OMIM:122470	HDAC8	55869	HP:0000453	Choanal atresia
OMIM:122470	HDAC8	55869	HP:0000588	Optic nerve coloboma
OMIM:122470	HDAC8	55869	HP:0000470	Short neck
OMIM:122470	HDAC8	55869	HP:0002714	Downturned corners of mouth
OMIM:122470	HDAC8	55869	HP:0002750	Delayed skeletal maturation
OMIM:122470	HDAC8	55869	HP:0000093	Proteinuria
OMIM:122470	HDAC8	55869	HP:0000879	Short sternum
OMIM:122470	HDAC8	55869	HP:0004691	2-3 toe syndactyly
OMIM:122470	HDAC8	55869	HP:0000369	Low-set ears
OMIM:122470	HDAC8	55869	HP:0002021	Pyloric stenosis
OMIM:122470	HDAC8	55869	HP:0000684	Delayed eruption of teeth
OMIM:122470	HDAC8	55869	HP:0000776	Congenital diaphragmatic hernia
OMIM:122470	HDAC8	55869	HP:0005280	Depressed nasal bridge
OMIM:122470	HDAC8	55869	HP:0000219	Thin upper lip vermilion
OMIM:122470	HDAC8	55869	HP:0000483	Astigmatism
OMIM:122470	HDAC8	55869	HP:0000954	Single transverse palmar crease
OMIM:122470	HDAC8	55869	HP:0000006	Autosomal dominant inheritance
OMIM:122470	HDAC8	55869	HP:0001873	Thrombocytopenia
OMIM:122470	HDAC8	55869	HP:0000248	Brachycephaly
OMIM:122470	HDAC8	55869	HP:0003812	Phenotypic variability
OMIM:122470	HDAC8	55869	HP:0000648	Optic atrophy
OMIM:122470	HDAC8	55869	HP:0002162	Low posterior hairline
OMIM:122470	HDAC8	55869	HP:0003083	Dislocated radial head
OMIM:122470	HDAC8	55869	HP:0009623	Proximal placement of thumb
OMIM:122470	HDAC8	55869	HP:0000405	Conductive hearing impairment
OMIM:122470	HDAC8	55869	HP:0001249	Intellectual disability
OMIM:122470	HDAC8	55869	HP:0000218	High palate
OMIM:122470	HDAC8	55869	HP:0000527	Long eyelashes
OMIM:122470	HDAC8	55869	HP:0003745	Sporadic
OMIM:122470	HDAC8	55869	HP:0000545	Myopia
OMIM:122470	HDAC8	55869	HP:0001511	Intrauterine growth retardation
OMIM:122470	HDAC8	55869	HP:0000508	Ptosis
OMIM:122470	HDAC8	55869	HP:0000343	Long philtrum
OMIM:122470	HDAC8	55869	HP:0000639	Nystagmus
OMIM:122470	HDAC8	55869	HP:0000089	Renal hypoplasia
OMIM:122470	HDAC8	55869	HP:0000687	Widely spaced teeth
OMIM:122470	HDAC8	55869	HP:0001250	Seizures
OMIM:122470	HDAC8	55869	HP:0000028	Cryptorchidism
OMIM:122470	HDAC8	55869	HP:0002020	Gastroesophageal reflux
OMIM:122470	HDAC8	55869	HP:0000347	Micrognathia
OMIM:122470	HDAC8	55869	HP:0000023	Inguinal hernia
OMIM:122470	HDAC8	55869	HP:0000750	Delayed speech and language development
OMIM:122470	HDAC8	55869	HP:0001629	Ventricular septal defect
OMIM:122470	HDAC8	55869	HP:0000086	Ectopic kidney
OMIM:122470	HDAC8	55869	HP:0001551	Abnormality of the umbilicus
OMIM:122470	HDAC8	55869	HP:0001007	Hirsutism
OMIM:122470	HDAC8	55869	HP:0000204	Cleft upper lip
OMIM:122470	HDAC8	55869	HP:0000047	Hypospadias
OMIM:122470	HDAC8	55869	HP:0000482	Microcornea
OMIM:122470	HDAC8	55869	HP:0002984	Hypoplasia of the radius
OMIM:122470	HDAC8	55869	HP:0000407	Sensorineural hearing impairment
OMIM:122470	HDAC8	55869	HP:0000664	Synophrys
OMIM:122470	HDAC8	55869	HP:0000708	Behavioral abnormality
OMIM:122470	HDAC8	55869	HP:0000076	Vesicoureteral reflux
OMIM:122470	HDAC8	55869	HP:0000520	Proptosis
OMIM:122470	HDAC8	55869	HP:0002090	Pneumonia
OMIM:122470	HDAC8	55869	HP:0000463	Anteverted nares
OMIM:122470	HDAC8	55869	HP:0001276	Hypertonia
OMIM:122470	HDAC8	55869	HP:0002553	Highly arched eyebrow
OMIM:122470	HDAC8	55869	HP:0000486	Strabismus
OMIM:122470	HDAC8	55869	HP:0000965	Cutis marmorata
OMIM:122470	HDAC8	55869	HP:0000107	Renal cyst
OMIM:122470	HDAC8	55869	HP:0004322	Short stature
OMIM:122470	HDAC8	55869	HP:0000050	Hypoplastic male external genitalia
OMIM:122470	HDAC8	55869	HP:0000252	Microcephaly
OMIM:122470	HDAC8	55869	HP:0002987	Elbow flexion contracture
OMIM:122470	HDAC8	55869	HP:0002983	Micromelia
OMIM:122470	HDAC8	55869	HP:0000175	Cleft palate
OMIM:122470	HDAC8	55869	HP:0002557	Hypoplastic nipples
OMIM:122470	RAD21	5885	HP:0004209	Clinodactyly of the 5th finger
OMIM:122470	RAD21	5885	HP:0100716	Self-injurious behavior
OMIM:122470	RAD21	5885	HP:0000453	Choanal atresia
OMIM:122470	RAD21	5885	HP:0000588	Optic nerve coloboma
OMIM:122470	RAD21	5885	HP:0000470	Short neck
OMIM:122470	RAD21	5885	HP:0002714	Downturned corners of mouth
OMIM:122470	RAD21	5885	HP:0002750	Delayed skeletal maturation
OMIM:122470	RAD21	5885	HP:0000093	Proteinuria
OMIM:122470	RAD21	5885	HP:0000879	Short sternum
OMIM:122470	RAD21	5885	HP:0004691	2-3 toe syndactyly
OMIM:122470	RAD21	5885	HP:0000369	Low-set ears
OMIM:122470	RAD21	5885	HP:0002021	Pyloric stenosis
OMIM:122470	RAD21	5885	HP:0000684	Delayed eruption of teeth
OMIM:122470	RAD21	5885	HP:0000776	Congenital diaphragmatic hernia
OMIM:122470	RAD21	5885	HP:0005280	Depressed nasal bridge
OMIM:122470	RAD21	5885	HP:0000219	Thin upper lip vermilion
OMIM:122470	RAD21	5885	HP:0000483	Astigmatism
OMIM:122470	RAD21	5885	HP:0000954	Single transverse palmar crease
OMIM:122470	RAD21	5885	HP:0000006	Autosomal dominant inheritance
OMIM:122470	RAD21	5885	HP:0001873	Thrombocytopenia
OMIM:122470	RAD21	5885	HP:0000248	Brachycephaly
OMIM:122470	RAD21	5885	HP:0003812	Phenotypic variability
OMIM:122470	RAD21	5885	HP:0000648	Optic atrophy
OMIM:122470	RAD21	5885	HP:0002162	Low posterior hairline
OMIM:122470	RAD21	5885	HP:0003083	Dislocated radial head
OMIM:122470	RAD21	5885	HP:0009623	Proximal placement of thumb
OMIM:122470	RAD21	5885	HP:0000405	Conductive hearing impairment
OMIM:122470	RAD21	5885	HP:0001249	Intellectual disability
OMIM:122470	RAD21	5885	HP:0000218	High palate
OMIM:122470	RAD21	5885	HP:0000527	Long eyelashes
OMIM:122470	RAD21	5885	HP:0003745	Sporadic
OMIM:122470	RAD21	5885	HP:0000545	Myopia
OMIM:122470	RAD21	5885	HP:0001511	Intrauterine growth retardation
OMIM:122470	RAD21	5885	HP:0000508	Ptosis
OMIM:122470	RAD21	5885	HP:0000343	Long philtrum
OMIM:122470	RAD21	5885	HP:0000639	Nystagmus
OMIM:122470	RAD21	5885	HP:0000089	Renal hypoplasia
OMIM:122470	RAD21	5885	HP:0000687	Widely spaced teeth
OMIM:122470	RAD21	5885	HP:0001250	Seizures
OMIM:122470	RAD21	5885	HP:0000028	Cryptorchidism
OMIM:122470	RAD21	5885	HP:0002020	Gastroesophageal reflux
OMIM:122470	RAD21	5885	HP:0000347	Micrognathia
OMIM:122470	RAD21	5885	HP:0000023	Inguinal hernia
OMIM:122470	RAD21	5885	HP:0000750	Delayed speech and language development
OMIM:122470	RAD21	5885	HP:0001629	Ventricular septal defect
OMIM:122470	RAD21	5885	HP:0000086	Ectopic kidney
OMIM:122470	RAD21	5885	HP:0001551	Abnormality of the umbilicus
OMIM:122470	RAD21	5885	HP:0001007	Hirsutism
OMIM:122470	RAD21	5885	HP:0000204	Cleft upper lip
OMIM:122470	RAD21	5885	HP:0000047	Hypospadias
OMIM:122470	RAD21	5885	HP:0000482	Microcornea
OMIM:122470	RAD21	5885	HP:0002984	Hypoplasia of the radius
OMIM:122470	RAD21	5885	HP:0000407	Sensorineural hearing impairment
OMIM:122470	RAD21	5885	HP:0000664	Synophrys
OMIM:122470	RAD21	5885	HP:0000708	Behavioral abnormality
OMIM:122470	RAD21	5885	HP:0000076	Vesicoureteral reflux
OMIM:122470	RAD21	5885	HP:0000520	Proptosis
OMIM:122470	RAD21	5885	HP:0002090	Pneumonia
OMIM:122470	RAD21	5885	HP:0000463	Anteverted nares
OMIM:122470	RAD21	5885	HP:0001276	Hypertonia
OMIM:122470	RAD21	5885	HP:0002553	Highly arched eyebrow
OMIM:122470	RAD21	5885	HP:0000486	Strabismus
OMIM:122470	RAD21	5885	HP:0000965	Cutis marmorata
OMIM:122470	RAD21	5885	HP:0000107	Renal cyst
OMIM:122470	RAD21	5885	HP:0004322	Short stature
OMIM:122470	RAD21	5885	HP:0000050	Hypoplastic male external genitalia
OMIM:122470	RAD21	5885	HP:0000252	Microcephaly
OMIM:122470	RAD21	5885	HP:0002987	Elbow flexion contracture
OMIM:122470	RAD21	5885	HP:0002983	Micromelia
OMIM:122470	RAD21	5885	HP:0000175	Cleft palate
OMIM:122470	RAD21	5885	HP:0002557	Hypoplastic nipples
OMIM:615026	SLC52A1	55065	HP:0001943	Hypoglycemia
OMIM:615026	SLC52A1	55065	HP:0001942	Metabolic acidosis
OMIM:615026	SLC52A1	55065	HP:0002033	Poor suck
OMIM:615026	SLC52A1	55065	HP:0003215	Dicarboxylic aciduria
OMIM:607458	IFRD1	3475	HP:0001310	Dysmetria
OMIM:607458	IFRD1	3475	HP:0003690	Limb muscle weakness
OMIM:607458	IFRD1	3475	HP:0001284	Areflexia
OMIM:607458	IFRD1	3475	HP:0001337	Tremor
OMIM:607458	IFRD1	3475	HP:0001265	Hyporeflexia
OMIM:607458	IFRD1	3475	HP:0000006	Autosomal dominant inheritance
OMIM:607458	IFRD1	3475	HP:0000639	Nystagmus
OMIM:607458	IFRD1	3475	HP:0001761	Pes cavus
OMIM:607458	IFRD1	3475	HP:0001272	Cerebellar atrophy
OMIM:607458	IFRD1	3475	HP:0003202	Skeletal muscle atrophy
OMIM:607458	IFRD1	3475	HP:0003487	Babinski sign
OMIM:607458	IFRD1	3475	HP:0003674	Onset
OMIM:607458	IFRD1	3475	HP:0002075	Dysdiadochokinesis
OMIM:608898	STX11	8676	HP:0001433	Hepatosplenomegaly
OMIM:608898	STX11	8676	HP:0001903	Anemia
OMIM:608898	STX11	8676	HP:0002155	Hypertriglyceridemia
OMIM:608898	STX11	8676	HP:0001945	Fever
OMIM:608898	STX11	8676	HP:0000007	Autosomal recessive inheritance
OMIM:608898	STX11	8676	HP:0001913	Granulocytopenia
OMIM:608898	UNC13D	201294	HP:0001433	Hepatosplenomegaly
OMIM:608898	UNC13D	201294	HP:0001903	Anemia
OMIM:608898	UNC13D	201294	HP:0002155	Hypertriglyceridemia
OMIM:608898	UNC13D	201294	HP:0001945	Fever
OMIM:608898	UNC13D	201294	HP:0000007	Autosomal recessive inheritance
OMIM:608898	UNC13D	201294	HP:0001913	Granulocytopenia
OMIM:608898	STXBP2	6813	HP:0001433	Hepatosplenomegaly
OMIM:608898	STXBP2	6813	HP:0001903	Anemia
OMIM:608898	STXBP2	6813	HP:0002155	Hypertriglyceridemia
OMIM:608898	STXBP2	6813	HP:0001945	Fever
OMIM:608898	STXBP2	6813	HP:0000007	Autosomal recessive inheritance
OMIM:608898	STXBP2	6813	HP:0001913	Granulocytopenia
OMIM:608898	PRF1	5551	HP:0001433	Hepatosplenomegaly
OMIM:608898	PRF1	5551	HP:0001903	Anemia
OMIM:608898	PRF1	5551	HP:0002155	Hypertriglyceridemia
OMIM:608898	PRF1	5551	HP:0001945	Fever
OMIM:608898	PRF1	5551	HP:0000007	Autosomal recessive inheritance
OMIM:608898	PRF1	5551	HP:0001913	Granulocytopenia
OMIM:600156	SEMA3C	10512	HP:0002251	Aganglionic megacolon
OMIM:600156	SEMA3C	10512	HP:0000006	Autosomal dominant inheritance
OMIM:600156	ECE1	1889	HP:0002251	Aganglionic megacolon
OMIM:600156	ECE1	1889	HP:0000006	Autosomal dominant inheritance
OMIM:600156	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:600156	EDN3	1908	HP:0000006	Autosomal dominant inheritance
OMIM:600156	EDNRB	1910	HP:0002251	Aganglionic megacolon
OMIM:600156	EDNRB	1910	HP:0000006	Autosomal dominant inheritance
OMIM:600156	NRTN	4902	HP:0002251	Aganglionic megacolon
OMIM:600156	NRTN	4902	HP:0000006	Autosomal dominant inheritance
OMIM:600156	RET	5979	HP:0002251	Aganglionic megacolon
OMIM:600156	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:600156	GDNF	2668	HP:0002251	Aganglionic megacolon
OMIM:600156	GDNF	2668	HP:0000006	Autosomal dominant inheritance
OMIM:600156	SEMA3D	223117	HP:0002251	Aganglionic megacolon
OMIM:600156	SEMA3D	223117	HP:0000006	Autosomal dominant inheritance
OMIM:616227	GFPT1	2673	HP:0000007	Autosomal recessive inheritance
OMIM:616227	GFPT1	2673	HP:0002359	Frequent falls
OMIM:616227	GFPT1	2673	HP:0002828	Multiple joint contractures
OMIM:616227	GFPT1	2673	HP:0000508	Ptosis
OMIM:616227	ALG14	199857	HP:0000007	Autosomal recessive inheritance
OMIM:616227	ALG14	199857	HP:0002359	Frequent falls
OMIM:616227	ALG14	199857	HP:0002828	Multiple joint contractures
OMIM:616227	ALG14	199857	HP:0000508	Ptosis
OMIM:616227	ALG2	85365	HP:0000007	Autosomal recessive inheritance
OMIM:616227	ALG2	85365	HP:0002359	Frequent falls
OMIM:616227	ALG2	85365	HP:0002828	Multiple joint contractures
OMIM:616227	ALG2	85365	HP:0000508	Ptosis
OMIM:616227	DPAGT1	1798	HP:0000007	Autosomal recessive inheritance
OMIM:616227	DPAGT1	1798	HP:0002359	Frequent falls
OMIM:616227	DPAGT1	1798	HP:0002828	Multiple joint contractures
OMIM:616227	DPAGT1	1798	HP:0000508	Ptosis
OMIM:125800	AQP2	359	HP:0001508	Failure to thrive
OMIM:125800	AQP2	359	HP:0003623	Neonatal onset
OMIM:125800	AQP2	359	HP:0000737	Irritability
OMIM:125800	AQP2	359	HP:0002019	Constipation
OMIM:125800	AQP2	359	HP:0000007	Autosomal recessive inheritance
OMIM:125800	AQP2	359	HP:0001250	Seizures
OMIM:125800	AQP2	359	HP:0008872	Feeding difficulties in infancy
OMIM:125800	AQP2	359	HP:0000006	Autosomal dominant inheritance
OMIM:125800	AQP2	359	HP:0004322	Short stature
OMIM:125800	AQP2	359	HP:0002013	Vomiting
OMIM:125800	AQP2	359	HP:0001249	Intellectual disability
OMIM:125800	AVPR2	554	HP:0001508	Failure to thrive
OMIM:125800	AVPR2	554	HP:0003623	Neonatal onset
OMIM:125800	AVPR2	554	HP:0000737	Irritability
OMIM:125800	AVPR2	554	HP:0002019	Constipation
OMIM:125800	AVPR2	554	HP:0000007	Autosomal recessive inheritance
OMIM:125800	AVPR2	554	HP:0001250	Seizures
OMIM:125800	AVPR2	554	HP:0008872	Feeding difficulties in infancy
OMIM:125800	AVPR2	554	HP:0000006	Autosomal dominant inheritance
OMIM:125800	AVPR2	554	HP:0004322	Short stature
OMIM:125800	AVPR2	554	HP:0002013	Vomiting
OMIM:125800	AVPR2	554	HP:0001249	Intellectual disability
OMIM:615010	SAMHD1	25939	HP:0002371	Loss of speech
OMIM:615010	SAMHD1	25939	HP:0000252	Microcephaly
OMIM:615010	SAMHD1	25939	HP:0001337	Tremor
OMIM:615010	SAMHD1	25939	HP:0001878	Hemolytic anemia
OMIM:615010	SAMHD1	25939	HP:0002063	Rigidity
OMIM:615010	SAMHD1	25939	HP:0002514	Cerebral calcification
OMIM:615010	SAMHD1	25939	HP:0002415	Leukodystrophy
OMIM:615010	SAMHD1	25939	HP:0006957	Loss of ability to walk
OMIM:615010	SAMHD1	25939	HP:0002376	Developmental regression
OMIM:615010	SAMHD1	25939	HP:0000007	Autosomal recessive inheritance
OMIM:615010	SAMHD1	25939	HP:0001263	Global developmental delay
OMIM:615010	SAMHD1	25939	HP:0000639	Nystagmus
OMIM:615010	RNASEH2B	79621	HP:0002371	Loss of speech
OMIM:615010	RNASEH2B	79621	HP:0000252	Microcephaly
OMIM:615010	RNASEH2B	79621	HP:0001337	Tremor
OMIM:615010	RNASEH2B	79621	HP:0001878	Hemolytic anemia
OMIM:615010	RNASEH2B	79621	HP:0002063	Rigidity
OMIM:615010	RNASEH2B	79621	HP:0002514	Cerebral calcification
OMIM:615010	RNASEH2B	79621	HP:0002415	Leukodystrophy
OMIM:615010	RNASEH2B	79621	HP:0006957	Loss of ability to walk
OMIM:615010	RNASEH2B	79621	HP:0002376	Developmental regression
OMIM:615010	RNASEH2B	79621	HP:0000007	Autosomal recessive inheritance
OMIM:615010	RNASEH2B	79621	HP:0001263	Global developmental delay
OMIM:615010	RNASEH2B	79621	HP:0000639	Nystagmus
OMIM:615010	ADAR	103	HP:0002371	Loss of speech
OMIM:615010	ADAR	103	HP:0000252	Microcephaly
OMIM:615010	ADAR	103	HP:0001337	Tremor
OMIM:615010	ADAR	103	HP:0001878	Hemolytic anemia
OMIM:615010	ADAR	103	HP:0002063	Rigidity
OMIM:615010	ADAR	103	HP:0002514	Cerebral calcification
OMIM:615010	ADAR	103	HP:0002415	Leukodystrophy
OMIM:615010	ADAR	103	HP:0006957	Loss of ability to walk
OMIM:615010	ADAR	103	HP:0002376	Developmental regression
OMIM:615010	ADAR	103	HP:0000007	Autosomal recessive inheritance
OMIM:615010	ADAR	103	HP:0001263	Global developmental delay
OMIM:615010	ADAR	103	HP:0000639	Nystagmus
OMIM:615010	RNASEH2A	10535	HP:0002371	Loss of speech
OMIM:615010	RNASEH2A	10535	HP:0000252	Microcephaly
OMIM:615010	RNASEH2A	10535	HP:0001337	Tremor
OMIM:615010	RNASEH2A	10535	HP:0001878	Hemolytic anemia
OMIM:615010	RNASEH2A	10535	HP:0002063	Rigidity
OMIM:615010	RNASEH2A	10535	HP:0002514	Cerebral calcification
OMIM:615010	RNASEH2A	10535	HP:0002415	Leukodystrophy
OMIM:615010	RNASEH2A	10535	HP:0006957	Loss of ability to walk
OMIM:615010	RNASEH2A	10535	HP:0002376	Developmental regression
OMIM:615010	RNASEH2A	10535	HP:0000007	Autosomal recessive inheritance
OMIM:615010	RNASEH2A	10535	HP:0001263	Global developmental delay
OMIM:615010	RNASEH2A	10535	HP:0000639	Nystagmus
OMIM:615010	IFIH1	64135	HP:0002371	Loss of speech
OMIM:615010	IFIH1	64135	HP:0000252	Microcephaly
OMIM:615010	IFIH1	64135	HP:0001337	Tremor
OMIM:615010	IFIH1	64135	HP:0001878	Hemolytic anemia
OMIM:615010	IFIH1	64135	HP:0002063	Rigidity
OMIM:615010	IFIH1	64135	HP:0002514	Cerebral calcification
OMIM:615010	IFIH1	64135	HP:0002415	Leukodystrophy
OMIM:615010	IFIH1	64135	HP:0006957	Loss of ability to walk
OMIM:615010	IFIH1	64135	HP:0002376	Developmental regression
OMIM:615010	IFIH1	64135	HP:0000007	Autosomal recessive inheritance
OMIM:615010	IFIH1	64135	HP:0001263	Global developmental delay
OMIM:615010	IFIH1	64135	HP:0000639	Nystagmus
OMIM:615010	RNASEH2C	84153	HP:0002371	Loss of speech
OMIM:615010	RNASEH2C	84153	HP:0000252	Microcephaly
OMIM:615010	RNASEH2C	84153	HP:0001337	Tremor
OMIM:615010	RNASEH2C	84153	HP:0001878	Hemolytic anemia
OMIM:615010	RNASEH2C	84153	HP:0002063	Rigidity
OMIM:615010	RNASEH2C	84153	HP:0002514	Cerebral calcification
OMIM:615010	RNASEH2C	84153	HP:0002415	Leukodystrophy
OMIM:615010	RNASEH2C	84153	HP:0006957	Loss of ability to walk
OMIM:615010	RNASEH2C	84153	HP:0002376	Developmental regression
OMIM:615010	RNASEH2C	84153	HP:0000007	Autosomal recessive inheritance
OMIM:615010	RNASEH2C	84153	HP:0001263	Global developmental delay
OMIM:615010	RNASEH2C	84153	HP:0000639	Nystagmus
OMIM:615010	TREX1	11277	HP:0002371	Loss of speech
OMIM:615010	TREX1	11277	HP:0000252	Microcephaly
OMIM:615010	TREX1	11277	HP:0001337	Tremor
OMIM:615010	TREX1	11277	HP:0001878	Hemolytic anemia
OMIM:615010	TREX1	11277	HP:0002063	Rigidity
OMIM:615010	TREX1	11277	HP:0002514	Cerebral calcification
OMIM:615010	TREX1	11277	HP:0002415	Leukodystrophy
OMIM:615010	TREX1	11277	HP:0006957	Loss of ability to walk
OMIM:615010	TREX1	11277	HP:0002376	Developmental regression
OMIM:615010	TREX1	11277	HP:0000007	Autosomal recessive inheritance
OMIM:615010	TREX1	11277	HP:0001263	Global developmental delay
OMIM:615010	TREX1	11277	HP:0000639	Nystagmus
OMIM:608673	HSPB8	26353	HP:0002460	Distal muscle weakness
OMIM:608673	HSPB8	26353	HP:0001284	Areflexia
OMIM:608673	HSPB8	26353	HP:0003444	EMG: chronic denervation signs
OMIM:608673	HSPB8	26353	HP:0002650	Scoliosis
OMIM:608673	HSPB8	26353	HP:0003477	Peripheral axonal neuropathy
OMIM:608673	HSPB8	26353	HP:0001265	Hyporeflexia
OMIM:608673	HSPB8	26353	HP:0001761	Pes cavus
OMIM:608673	HSPB8	26353	HP:0003693	Distal amyotrophy
OMIM:608673	HSPB8	26353	HP:0000006	Autosomal dominant inheritance
OMIM:608673	HSPB8	26353	HP:0002936	Distal sensory impairment
OMIM:207750	LMF1	64788	HP:0002155	Hypertriglyceridemia
OMIM:207750	LMF1	64788	HP:0001733	Pancreatitis
OMIM:207750	LMF1	64788	HP:0001013	Eruptive xanthomas
OMIM:207750	LMF1	64788	HP:0000007	Autosomal recessive inheritance
OMIM:207750	LMF1	64788	HP:0002240	Hepatomegaly
OMIM:207750	LMF1	64788	HP:0001744	Splenomegaly
OMIM:207750	LMF1	64788	HP:0000660	Lipemia retinalis
OMIM:207750	APOC2	344	HP:0002155	Hypertriglyceridemia
OMIM:207750	APOC2	344	HP:0001733	Pancreatitis
OMIM:207750	APOC2	344	HP:0001013	Eruptive xanthomas
OMIM:207750	APOC2	344	HP:0000007	Autosomal recessive inheritance
OMIM:207750	APOC2	344	HP:0002240	Hepatomegaly
OMIM:207750	APOC2	344	HP:0001744	Splenomegaly
OMIM:207750	APOC2	344	HP:0000660	Lipemia retinalis
OMIM:207750	GPIHBP1	338328	HP:0002155	Hypertriglyceridemia
OMIM:207750	GPIHBP1	338328	HP:0001733	Pancreatitis
OMIM:207750	GPIHBP1	338328	HP:0001013	Eruptive xanthomas
OMIM:207750	GPIHBP1	338328	HP:0000007	Autosomal recessive inheritance
OMIM:207750	GPIHBP1	338328	HP:0002240	Hepatomegaly
OMIM:207750	GPIHBP1	338328	HP:0001744	Splenomegaly
OMIM:207750	GPIHBP1	338328	HP:0000660	Lipemia retinalis
OMIM:310500	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:310500	SLC24A1	9187	HP:0012047	Hemeralopia
OMIM:310500	SLC24A1	9187	HP:0001419	X-linked recessive inheritance
OMIM:310500	SLC24A1	9187	HP:0011003	Severe Myopia
OMIM:310500	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:310500	GRM6	2916	HP:0012047	Hemeralopia
OMIM:310500	GRM6	2916	HP:0001419	X-linked recessive inheritance
OMIM:310500	GRM6	2916	HP:0011003	Severe Myopia
OMIM:310500	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:310500	PDE6B	5158	HP:0012047	Hemeralopia
OMIM:310500	PDE6B	5158	HP:0001419	X-linked recessive inheritance
OMIM:310500	PDE6B	5158	HP:0011003	Severe Myopia
OMIM:310500	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:310500	CACNA1F	778	HP:0012047	Hemeralopia
OMIM:310500	CACNA1F	778	HP:0001419	X-linked recessive inheritance
OMIM:310500	CACNA1F	778	HP:0011003	Severe Myopia
OMIM:310500	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:310500	LRIT3	345193	HP:0012047	Hemeralopia
OMIM:310500	LRIT3	345193	HP:0001419	X-linked recessive inheritance
OMIM:310500	LRIT3	345193	HP:0011003	Severe Myopia
OMIM:310500	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:310500	CABP4	57010	HP:0012047	Hemeralopia
OMIM:310500	CABP4	57010	HP:0001419	X-linked recessive inheritance
OMIM:310500	CABP4	57010	HP:0011003	Severe Myopia
OMIM:310500	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:310500	CACNA2D4	93589	HP:0012047	Hemeralopia
OMIM:310500	CACNA2D4	93589	HP:0001419	X-linked recessive inheritance
OMIM:310500	CACNA2D4	93589	HP:0011003	Severe Myopia
OMIM:310500	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:310500	TRPM1	4308	HP:0012047	Hemeralopia
OMIM:310500	TRPM1	4308	HP:0001419	X-linked recessive inheritance
OMIM:310500	TRPM1	4308	HP:0011003	Severe Myopia
OMIM:310500	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:310500	GPR179	440435	HP:0012047	Hemeralopia
OMIM:310500	GPR179	440435	HP:0001419	X-linked recessive inheritance
OMIM:310500	GPR179	440435	HP:0011003	Severe Myopia
OMIM:310500	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:310500	SAG	6295	HP:0012047	Hemeralopia
OMIM:310500	SAG	6295	HP:0001419	X-linked recessive inheritance
OMIM:310500	SAG	6295	HP:0011003	Severe Myopia
OMIM:310500	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:310500	NYX	60506	HP:0012047	Hemeralopia
OMIM:310500	NYX	60506	HP:0001419	X-linked recessive inheritance
OMIM:310500	NYX	60506	HP:0011003	Severe Myopia
OMIM:310500	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:310500	RHO	6010	HP:0012047	Hemeralopia
OMIM:310500	RHO	6010	HP:0001419	X-linked recessive inheritance
OMIM:310500	RHO	6010	HP:0011003	Severe Myopia
OMIM:310500	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:310500	GNAT1	2779	HP:0012047	Hemeralopia
OMIM:310500	GNAT1	2779	HP:0001419	X-linked recessive inheritance
OMIM:310500	GNAT1	2779	HP:0011003	Severe Myopia
OMIM:310500	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:310500	GRK1	6011	HP:0012047	Hemeralopia
OMIM:310500	GRK1	6011	HP:0001419	X-linked recessive inheritance
OMIM:310500	GRK1	6011	HP:0011003	Severe Myopia
OMIM:178600	BMPR2	659	HP:0000006	Autosomal dominant inheritance
OMIM:178600	BMPR2	659	HP:0003829	Incomplete penetrance
OMIM:178600	BMPR2	659	HP:0002094	Dyspnea
OMIM:178600	BMPR2	659	HP:0000822	Hypertension
OMIM:178600	BMPR2	659	HP:0001667	Right ventricular hypertrophy
OMIM:178600	BMPR2	659	HP:0001977	Abnormal thrombosis
OMIM:178600	BMPR2	659	HP:0001009	Telangiectasia
OMIM:614468	PLCG2	5336	HP:0002099	Asthma
OMIM:614468	PLCG2	5336	HP:0000006	Autosomal dominant inheritance
OMIM:614468	PLCG2	5336	HP:0002719	Recurrent infections
OMIM:614468	PLCG2	5336	HP:0001045	Vitiligo
OMIM:614468	PLCG2	5336	HP:0001025	Urticaria
OMIM:614437	FBLN5	10516	HP:0002097	Emphysema
OMIM:614437	FBLN5	10516	HP:0000369	Low-set ears
OMIM:614437	FBLN5	10516	HP:0011220	Prominent forehead
OMIM:614437	FBLN5	10516	HP:0000347	Micrognathia
OMIM:614437	FBLN5	10516	HP:0000520	Proptosis
OMIM:614437	FBLN5	10516	HP:0000973	Cutis laxa
OMIM:614437	FBLN5	10516	HP:0010759	Prominence of the premaxilla
OMIM:614437	FBLN5	10516	HP:0005280	Depressed nasal bridge
OMIM:614437	FBLN5	10516	HP:0000414	Bulbous nose
OMIM:614437	FBLN5	10516	HP:0004955	Generalized arterial tortuosity
OMIM:614437	FBLN5	10516	HP:0000444	Convex nasal ridge
OMIM:614437	FBLN5	10516	HP:0000316	Hypertelorism
OMIM:614437	FBLN5	10516	HP:0001166	Arachnodactyly
OMIM:614437	FBLN5	10516	HP:0000767	Pectus excavatum
OMIM:614437	FBLN5	10516	HP:0045025	Small palpebral fissure
OMIM:614437	FBLN5	10516	HP:0000023	Inguinal hernia
OMIM:614437	FBLN5	10516	HP:0001252	Muscular hypotonia
OMIM:614437	FBLN5	10516	HP:0005116	Arterial tortuosity
OMIM:614437	FBLN5	10516	HP:0000007	Autosomal recessive inheritance
OMIM:614437	FBLN5	10516	HP:0004937	Pulmonary artery aneurysm
OMIM:614437	FBLN5	10516	HP:0004942	Aortic aneurysm
OMIM:614437	FBLN5	10516	HP:0001724	Aortic dilatation
OMIM:614437	FBLN5	10516	HP:0001382	Joint hypermobility
OMIM:614437	FBLN5	10516	HP:0001662	Bradycardia
OMIM:614437	FBLN5	10516	HP:0000218	High palate
OMIM:614437	FBLN5	10516	HP:0000252	Microcephaly
OMIM:614437	FBLN5	10516	HP:0000977	Soft skin
OMIM:614437	FBLN5	10516	HP:0001548	Overgrowth
OMIM:614437	FBLN5	10516	HP:0000377	Abnormality of the pinna
OMIM:614437	FBLN5	10516	HP:0000776	Congenital diaphragmatic hernia
OMIM:614437	FBLN5	10516	HP:0001562	Oligohydramnios
OMIM:614437	FBLN5	10516	HP:0010444	Pulmonary insufficiency
OMIM:614437	FBLN5	10516	HP:0000494	Downslanted palpebral fissures
OMIM:614437	FBLN5	10516	HP:0004927	Pulmonary artery dilatation
OMIM:614437	EFEMP2	30008	HP:0002097	Emphysema
OMIM:614437	EFEMP2	30008	HP:0000369	Low-set ears
OMIM:614437	EFEMP2	30008	HP:0011220	Prominent forehead
OMIM:614437	EFEMP2	30008	HP:0000347	Micrognathia
OMIM:614437	EFEMP2	30008	HP:0000520	Proptosis
OMIM:614437	EFEMP2	30008	HP:0000973	Cutis laxa
OMIM:614437	EFEMP2	30008	HP:0010759	Prominence of the premaxilla
OMIM:614437	EFEMP2	30008	HP:0005280	Depressed nasal bridge
OMIM:614437	EFEMP2	30008	HP:0000414	Bulbous nose
OMIM:614437	EFEMP2	30008	HP:0004955	Generalized arterial tortuosity
OMIM:614437	EFEMP2	30008	HP:0000444	Convex nasal ridge
OMIM:614437	EFEMP2	30008	HP:0000316	Hypertelorism
OMIM:614437	EFEMP2	30008	HP:0001166	Arachnodactyly
OMIM:614437	EFEMP2	30008	HP:0000767	Pectus excavatum
OMIM:614437	EFEMP2	30008	HP:0045025	Small palpebral fissure
OMIM:614437	EFEMP2	30008	HP:0000023	Inguinal hernia
OMIM:614437	EFEMP2	30008	HP:0001252	Muscular hypotonia
OMIM:614437	EFEMP2	30008	HP:0005116	Arterial tortuosity
OMIM:614437	EFEMP2	30008	HP:0000007	Autosomal recessive inheritance
OMIM:614437	EFEMP2	30008	HP:0004937	Pulmonary artery aneurysm
OMIM:614437	EFEMP2	30008	HP:0004942	Aortic aneurysm
OMIM:614437	EFEMP2	30008	HP:0001724	Aortic dilatation
OMIM:614437	EFEMP2	30008	HP:0001382	Joint hypermobility
OMIM:614437	EFEMP2	30008	HP:0001662	Bradycardia
OMIM:614437	EFEMP2	30008	HP:0000218	High palate
OMIM:614437	EFEMP2	30008	HP:0000252	Microcephaly
OMIM:614437	EFEMP2	30008	HP:0000977	Soft skin
OMIM:614437	EFEMP2	30008	HP:0001548	Overgrowth
OMIM:614437	EFEMP2	30008	HP:0000377	Abnormality of the pinna
OMIM:614437	EFEMP2	30008	HP:0000776	Congenital diaphragmatic hernia
OMIM:614437	EFEMP2	30008	HP:0001562	Oligohydramnios
OMIM:614437	EFEMP2	30008	HP:0010444	Pulmonary insufficiency
OMIM:614437	EFEMP2	30008	HP:0000494	Downslanted palpebral fissures
OMIM:614437	EFEMP2	30008	HP:0004927	Pulmonary artery dilatation
OMIM:107250	FOXE3	2301	HP:0001115	Posterior polar cataract
OMIM:107250	FOXE3	2301	HP:0007700	Anterior segment dysgenesis
OMIM:107250	FOXE3	2301	HP:0000006	Autosomal dominant inheritance
OMIM:107250	FOXE3	2301	HP:0007759	Opacification of the corneal stroma
OMIM:107250	PITX3	5309	HP:0001115	Posterior polar cataract
OMIM:107250	PITX3	5309	HP:0007700	Anterior segment dysgenesis
OMIM:107250	PITX3	5309	HP:0000006	Autosomal dominant inheritance
OMIM:107250	PITX3	5309	HP:0007759	Opacification of the corneal stroma
OMIM:613642	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:613642	TPM1	7168	HP:0000007	Autosomal recessive inheritance
OMIM:613642	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:613642	CRYAB	1410	HP:0000007	Autosomal recessive inheritance
OMIM:613642	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613642	ACTC1	70	HP:0000007	Autosomal recessive inheritance
OMIM:613642	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:613642	RAF1	5894	HP:0000007	Autosomal recessive inheritance
OMIM:613642	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613642	GATAD1	57798	HP:0000007	Autosomal recessive inheritance
OMIM:613642	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:613642	LAMA4	3910	HP:0000007	Autosomal recessive inheritance
OMIM:613642	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613642	TMPO	7112	HP:0000007	Autosomal recessive inheritance
OMIM:613642	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:613642	DES	1674	HP:0000007	Autosomal recessive inheritance
OMIM:613642	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:613642	ABCC9	10060	HP:0000007	Autosomal recessive inheritance
OMIM:613642	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:613642	MYH6	4624	HP:0000007	Autosomal recessive inheritance
OMIM:613642	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613642	MYH7	4625	HP:0000007	Autosomal recessive inheritance
OMIM:613642	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:613642	LDB3	11155	HP:0000007	Autosomal recessive inheritance
OMIM:613642	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:613642	ACTN2	88	HP:0000007	Autosomal recessive inheritance
OMIM:613642	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:613642	TXNRD2	10587	HP:0000007	Autosomal recessive inheritance
OMIM:613642	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:613642	DMD	1756	HP:0000007	Autosomal recessive inheritance
OMIM:613642	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:613642	TNNC1	7134	HP:0000007	Autosomal recessive inheritance
OMIM:613642	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613642	PSEN1	5663	HP:0000007	Autosomal recessive inheritance
OMIM:613642	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:613642	PSEN2	5664	HP:0000007	Autosomal recessive inheritance
OMIM:613642	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:613642	TNNI3	7137	HP:0000007	Autosomal recessive inheritance
OMIM:613642	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:613642	FHL2	2274	HP:0000007	Autosomal recessive inheritance
OMIM:613642	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:613642	TNNT2	7139	HP:0000007	Autosomal recessive inheritance
OMIM:613642	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:613642	DSG2	1829	HP:0000007	Autosomal recessive inheritance
OMIM:613642	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:613642	PLN	5350	HP:0000007	Autosomal recessive inheritance
OMIM:613642	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:613642	PRDM16	63976	HP:0000007	Autosomal recessive inheritance
OMIM:613642	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613642	TTN	7273	HP:0000007	Autosomal recessive inheritance
OMIM:613642	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:613642	NEXN	91624	HP:0000007	Autosomal recessive inheritance
OMIM:613642	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:613642	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:613642	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:613642	SGCD	6444	HP:0000007	Autosomal recessive inheritance
OMIM:613642	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:613642	TCAP	8557	HP:0000007	Autosomal recessive inheritance
OMIM:613642	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:613642	CSRP3	8048	HP:0000007	Autosomal recessive inheritance
OMIM:613642	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:613642	RBM20	282996	HP:0000007	Autosomal recessive inheritance
OMIM:613642	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:613642	SDHA	6389	HP:0000007	Autosomal recessive inheritance
OMIM:613642	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:613642	TAZ	6901	HP:0000007	Autosomal recessive inheritance
OMIM:613642	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:613642	VCL	7414	HP:0000007	Autosomal recessive inheritance
OMIM:613642	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:613642	MYPN	84665	HP:0000007	Autosomal recessive inheritance
OMIM:613642	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:613642	SCN5A	6331	HP:0000007	Autosomal recessive inheritance
OMIM:613642	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:613642	BAG3	9531	HP:0000007	Autosomal recessive inheritance
OMIM:613642	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:613642	DOLK	22845	HP:0000007	Autosomal recessive inheritance
OMIM:613642	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:613642	MYBPC3	4607	HP:0000007	Autosomal recessive inheritance
OMIM:607636	SOST	50964	HP:0002684	Thickened calvaria
OMIM:607636	SOST	50964	HP:0000006	Autosomal dominant inheritance
OMIM:607636	SOST	50964	HP:0000303	Mandibular prognathia
OMIM:607636	LRP5	4041	HP:0002684	Thickened calvaria
OMIM:607636	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:607636	LRP5	4041	HP:0000303	Mandibular prognathia
OMIM:601071	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:601071	MSRB3	253827	HP:0008529	Absence of acoustic reflex
OMIM:601071	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:601071	MSRB3	253827	HP:0004463	Absent brainstem auditory responses
OMIM:601071	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:601071	BSND	7809	HP:0008529	Absence of acoustic reflex
OMIM:601071	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:601071	BSND	7809	HP:0004463	Absent brainstem auditory responses
OMIM:601071	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:601071	ESPN	83715	HP:0008529	Absence of acoustic reflex
OMIM:601071	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:601071	ESPN	83715	HP:0004463	Absent brainstem auditory responses
OMIM:601071	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:601071	DFNB31	25861	HP:0008529	Absence of acoustic reflex
OMIM:601071	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:601071	DFNB31	25861	HP:0004463	Absent brainstem auditory responses
OMIM:601071	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:601071	OTOA	146183	HP:0008529	Absence of acoustic reflex
OMIM:601071	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:601071	OTOA	146183	HP:0004463	Absent brainstem auditory responses
OMIM:601071	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:601071	GJA1	2697	HP:0008529	Absence of acoustic reflex
OMIM:601071	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:601071	GJA1	2697	HP:0004463	Absent brainstem auditory responses
OMIM:601071	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:601071	MET	4233	HP:0008529	Absence of acoustic reflex
OMIM:601071	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:601071	MET	4233	HP:0004463	Absent brainstem auditory responses
OMIM:601071	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:601071	CLDN14	23562	HP:0008529	Absence of acoustic reflex
OMIM:601071	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:601071	CLDN14	23562	HP:0004463	Absent brainstem auditory responses
OMIM:601071	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:601071	HGF	3082	HP:0008529	Absence of acoustic reflex
OMIM:601071	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:601071	HGF	3082	HP:0004463	Absent brainstem auditory responses
OMIM:601071	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:601071	PNPT1	87178	HP:0008529	Absence of acoustic reflex
OMIM:601071	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:601071	PNPT1	87178	HP:0004463	Absent brainstem auditory responses
OMIM:601071	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:601071	EPS8	2059	HP:0008529	Absence of acoustic reflex
OMIM:601071	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:601071	EPS8	2059	HP:0004463	Absent brainstem auditory responses
OMIM:601071	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:601071	MYO3A	53904	HP:0008529	Absence of acoustic reflex
OMIM:601071	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:601071	MYO3A	53904	HP:0004463	Absent brainstem auditory responses
OMIM:601071	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:601071	DCDC2	51473	HP:0008529	Absence of acoustic reflex
OMIM:601071	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:601071	DCDC2	51473	HP:0004463	Absent brainstem auditory responses
OMIM:601071	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:601071	GJB2	2706	HP:0008529	Absence of acoustic reflex
OMIM:601071	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:601071	GJB2	2706	HP:0004463	Absent brainstem auditory responses
OMIM:601071	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:601071	GJB3	2707	HP:0008529	Absence of acoustic reflex
OMIM:601071	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:601071	GJB3	2707	HP:0004463	Absent brainstem auditory responses
OMIM:601071	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:601071	CABP2	51475	HP:0008529	Absence of acoustic reflex
OMIM:601071	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:601071	CABP2	51475	HP:0004463	Absent brainstem auditory responses
OMIM:601071	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:601071	GRXCR2	643226	HP:0008529	Absence of acoustic reflex
OMIM:601071	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:601071	GRXCR2	643226	HP:0004463	Absent brainstem auditory responses
OMIM:601071	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:601071	SERPINB6	5269	HP:0008529	Absence of acoustic reflex
OMIM:601071	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:601071	SERPINB6	5269	HP:0004463	Absent brainstem auditory responses
OMIM:601071	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:601071	COL11A2	1302	HP:0008529	Absence of acoustic reflex
OMIM:601071	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:601071	COL11A2	1302	HP:0004463	Absent brainstem auditory responses
OMIM:601071	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:601071	CIB2	10518	HP:0008529	Absence of acoustic reflex
OMIM:601071	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:601071	CIB2	10518	HP:0004463	Absent brainstem auditory responses
OMIM:601071	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:601071	FAM65B	9750	HP:0008529	Absence of acoustic reflex
OMIM:601071	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:601071	FAM65B	9750	HP:0004463	Absent brainstem auditory responses
OMIM:601071	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:601071	KARS	3735	HP:0008529	Absence of acoustic reflex
OMIM:601071	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:601071	KARS	3735	HP:0004463	Absent brainstem auditory responses
OMIM:601071	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:601071	LOXHD1	125336	HP:0008529	Absence of acoustic reflex
OMIM:601071	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:601071	LOXHD1	125336	HP:0004463	Absent brainstem auditory responses
OMIM:601071	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:601071	TMC1	117531	HP:0008529	Absence of acoustic reflex
OMIM:601071	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:601071	TMC1	117531	HP:0004463	Absent brainstem auditory responses
OMIM:601071	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:601071	CLIC5	53405	HP:0008529	Absence of acoustic reflex
OMIM:601071	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:601071	CLIC5	53405	HP:0004463	Absent brainstem auditory responses
OMIM:601071	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:601071	OTOF	9381	HP:0008529	Absence of acoustic reflex
OMIM:601071	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:601071	OTOF	9381	HP:0004463	Absent brainstem auditory responses
OMIM:601071	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:601071	MYO6	4646	HP:0008529	Absence of acoustic reflex
OMIM:601071	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:601071	MYO6	4646	HP:0004463	Absent brainstem auditory responses
OMIM:601071	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:601071	TMIE	259236	HP:0008529	Absence of acoustic reflex
OMIM:601071	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:601071	TMIE	259236	HP:0004463	Absent brainstem auditory responses
OMIM:601071	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:601071	MYO7A	4647	HP:0008529	Absence of acoustic reflex
OMIM:601071	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:601071	MYO7A	4647	HP:0004463	Absent brainstem auditory responses
OMIM:601071	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:601071	LRTOMT	220074	HP:0008529	Absence of acoustic reflex
OMIM:601071	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:601071	LRTOMT	220074	HP:0004463	Absent brainstem auditory responses
OMIM:601071	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:601071	OTOGL	283310	HP:0008529	Absence of acoustic reflex
OMIM:601071	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:601071	OTOGL	283310	HP:0004463	Absent brainstem auditory responses
OMIM:601071	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:601071	TPRN	286262	HP:0008529	Absence of acoustic reflex
OMIM:601071	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:601071	TPRN	286262	HP:0004463	Absent brainstem auditory responses
OMIM:601071	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:601071	SLC26A4	5172	HP:0008529	Absence of acoustic reflex
OMIM:601071	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:601071	SLC26A4	5172	HP:0004463	Absent brainstem auditory responses
OMIM:601071	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:601071	GJB6	10804	HP:0008529	Absence of acoustic reflex
OMIM:601071	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:601071	GJB6	10804	HP:0004463	Absent brainstem auditory responses
OMIM:601071	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:601071	DFNB59	494513	HP:0008529	Absence of acoustic reflex
OMIM:601071	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:601071	DFNB59	494513	HP:0004463	Absent brainstem auditory responses
OMIM:601071	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:601071	ESRRB	2103	HP:0008529	Absence of acoustic reflex
OMIM:601071	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:601071	ESRRB	2103	HP:0004463	Absent brainstem auditory responses
OMIM:601071	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:601071	TMPRSS3	64699	HP:0008529	Absence of acoustic reflex
OMIM:601071	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:601071	TMPRSS3	64699	HP:0004463	Absent brainstem auditory responses
OMIM:601071	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:601071	PTPRQ	374462	HP:0008529	Absence of acoustic reflex
OMIM:601071	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:601071	PTPRQ	374462	HP:0004463	Absent brainstem auditory responses
OMIM:601071	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:601071	SLC26A5	375611	HP:0008529	Absence of acoustic reflex
OMIM:601071	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:601071	SLC26A5	375611	HP:0004463	Absent brainstem auditory responses
OMIM:601071	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:601071	PCDH15	65217	HP:0008529	Absence of acoustic reflex
OMIM:601071	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:601071	PCDH15	65217	HP:0004463	Absent brainstem auditory responses
OMIM:601071	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:601071	TSPEAR	54084	HP:0008529	Absence of acoustic reflex
OMIM:601071	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:601071	TSPEAR	54084	HP:0004463	Absent brainstem auditory responses
OMIM:601071	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:601071	LHFPL5	222662	HP:0008529	Absence of acoustic reflex
OMIM:601071	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:601071	LHFPL5	222662	HP:0004463	Absent brainstem auditory responses
OMIM:601071	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:601071	TRIOBP	11078	HP:0008529	Absence of acoustic reflex
OMIM:601071	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:601071	TRIOBP	11078	HP:0004463	Absent brainstem auditory responses
OMIM:601071	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:601071	CDH23	64072	HP:0008529	Absence of acoustic reflex
OMIM:601071	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:601071	CDH23	64072	HP:0004463	Absent brainstem auditory responses
OMIM:601071	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:601071	RDX	5962	HP:0008529	Absence of acoustic reflex
OMIM:601071	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:601071	RDX	5962	HP:0004463	Absent brainstem auditory responses
OMIM:601071	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:601071	GPSM2	29899	HP:0008529	Absence of acoustic reflex
OMIM:601071	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:601071	GPSM2	29899	HP:0004463	Absent brainstem auditory responses
OMIM:601071	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:601071	ELMOD3	84173	HP:0008529	Absence of acoustic reflex
OMIM:601071	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:601071	ELMOD3	84173	HP:0004463	Absent brainstem auditory responses
OMIM:601071	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:601071	ILDR1	286676	HP:0008529	Absence of acoustic reflex
OMIM:601071	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:601071	ILDR1	286676	HP:0004463	Absent brainstem auditory responses
OMIM:601071	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:601071	GRXCR1	389207	HP:0008529	Absence of acoustic reflex
OMIM:601071	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:601071	GRXCR1	389207	HP:0004463	Absent brainstem auditory responses
OMIM:601071	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:601071	MARVELD2	153562	HP:0008529	Absence of acoustic reflex
OMIM:601071	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:601071	MARVELD2	153562	HP:0004463	Absent brainstem auditory responses
OMIM:601071	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:601071	STRC	161497	HP:0008529	Absence of acoustic reflex
OMIM:601071	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:601071	STRC	161497	HP:0004463	Absent brainstem auditory responses
OMIM:601071	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:601071	SLITRK6	84189	HP:0008529	Absence of acoustic reflex
OMIM:601071	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:601071	SLITRK6	84189	HP:0004463	Absent brainstem auditory responses
OMIM:601071	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:601071	TECTA	7007	HP:0008529	Absence of acoustic reflex
OMIM:601071	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:601071	TECTA	7007	HP:0004463	Absent brainstem auditory responses
OMIM:601071	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:601071	MYO15A	51168	HP:0008529	Absence of acoustic reflex
OMIM:601071	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:601071	MYO15A	51168	HP:0004463	Absent brainstem auditory responses
OMIM:601071	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:601071	USH1C	10083	HP:0008529	Absence of acoustic reflex
OMIM:601071	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:601071	USH1C	10083	HP:0004463	Absent brainstem auditory responses
OMIM:601071	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:601071	ADCY1	107	HP:0008529	Absence of acoustic reflex
OMIM:601071	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:601071	ADCY1	107	HP:0004463	Absent brainstem auditory responses
OMIM:601071	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:601071	SYNE4	163183	HP:0008529	Absence of acoustic reflex
OMIM:601071	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:601071	SYNE4	163183	HP:0004463	Absent brainstem auditory responses
OMIM:601071	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:601071	GIPC3	126326	HP:0008529	Absence of acoustic reflex
OMIM:601071	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:601071	GIPC3	126326	HP:0004463	Absent brainstem auditory responses
OMIM:601071	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:601071	TBC1D24	57465	HP:0008529	Absence of acoustic reflex
OMIM:601071	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:601071	TBC1D24	57465	HP:0004463	Absent brainstem auditory responses
OMIM:601071	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:601071	OTOG	340990	HP:0008529	Absence of acoustic reflex
OMIM:601071	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:601071	OTOG	340990	HP:0004463	Absent brainstem auditory responses
ORPHANET:1871	GUCA1A	2978	HP:0000512	Abnormal electroretinogram
ORPHANET:1871	GUCA1A	2978	HP:0000551	Abnormality of color vision
ORPHANET:1871	GUCA1A	2978	HP:0000613	Photophobia
ORPHANET:1871	GUCA1A	2978	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1871	GUCA1A	2978	HP:0000505	Visual impairment
ORPHANET:1871	CNGB3	54714	HP:0000512	Abnormal electroretinogram
ORPHANET:1871	CNGB3	54714	HP:0000551	Abnormality of color vision
ORPHANET:1871	CNGB3	54714	HP:0000613	Photophobia
ORPHANET:1871	CNGB3	54714	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1871	CNGB3	54714	HP:0000505	Visual impairment
ORPHANET:1871	PDE6C	5146	HP:0000512	Abnormal electroretinogram
ORPHANET:1871	PDE6C	5146	HP:0000551	Abnormality of color vision
ORPHANET:1871	PDE6C	5146	HP:0000613	Photophobia
ORPHANET:1871	PDE6C	5146	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1871	PDE6C	5146	HP:0000505	Visual impairment
ORPHANET:1871	GNAT2	2780	HP:0000512	Abnormal electroretinogram
ORPHANET:1871	GNAT2	2780	HP:0000551	Abnormality of color vision
ORPHANET:1871	GNAT2	2780	HP:0000613	Photophobia
ORPHANET:1871	GNAT2	2780	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1871	GNAT2	2780	HP:0000505	Visual impairment
OMIM:251750	LTBP2	4053	HP:0000485	Megalocornea
OMIM:251750	LTBP2	4053	HP:0000007	Autosomal recessive inheritance
OMIM:251750	LTBP2	4053	HP:0000218	High palate
OMIM:251750	LTBP2	4053	HP:0001083	Ectopia lentis
OMIM:251750	LTBP2	4053	HP:0000540	Hypermetropia
OMIM:613153	B4GAT1	11041	HP:0001712	Left ventricular hypertrophy
OMIM:613153	B4GAT1	11041	HP:0000541	Retinal detachment
OMIM:613153	B4GAT1	11041	HP:0001302	Pachygyria
OMIM:613153	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:613153	B4GAT1	11041	HP:0000545	Myopia
OMIM:613153	B4GAT1	11041	HP:0000568	Microphthalmia
OMIM:613153	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	B4GAT1	11041	HP:0003577	Congenital onset
OMIM:613153	B4GAT1	11041	HP:0002187	Intellectual disability, profound
OMIM:613153	B4GAT1	11041	HP:0006829	Severe muscular hypotonia
OMIM:613153	B4GAT1	11041	HP:0012110	Hypoplasia of the pons
OMIM:613153	B4GAT1	11041	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:613153	B4GAT1	11041	HP:0007957	Corneal opacity
OMIM:613153	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:613153	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:613153	B4GAT1	11041	HP:0003819	Death in childhood
OMIM:613153	B4GAT1	11041	HP:0007033	Cerebellar dysplasia
OMIM:613153	B4GAT1	11041	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	B4GAT1	11041	HP:0001305	Dandy-Walker malformation
OMIM:613153	B4GAT1	11041	HP:0001270	Motor delay
OMIM:613153	B4GAT1	11041	HP:0000589	Coloboma
OMIM:613153	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
OMIM:613153	B4GAT1	11041	HP:0002093	Respiratory insufficiency
OMIM:613153	POMT2	29954	HP:0001712	Left ventricular hypertrophy
OMIM:613153	POMT2	29954	HP:0000541	Retinal detachment
OMIM:613153	POMT2	29954	HP:0001302	Pachygyria
OMIM:613153	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:613153	POMT2	29954	HP:0000545	Myopia
OMIM:613153	POMT2	29954	HP:0000568	Microphthalmia
OMIM:613153	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	POMT2	29954	HP:0003577	Congenital onset
OMIM:613153	POMT2	29954	HP:0002187	Intellectual disability, profound
OMIM:613153	POMT2	29954	HP:0006829	Severe muscular hypotonia
OMIM:613153	POMT2	29954	HP:0012110	Hypoplasia of the pons
OMIM:613153	POMT2	29954	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:613153	POMT2	29954	HP:0007957	Corneal opacity
OMIM:613153	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:613153	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:613153	POMT2	29954	HP:0003819	Death in childhood
OMIM:613153	POMT2	29954	HP:0007033	Cerebellar dysplasia
OMIM:613153	POMT2	29954	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	POMT2	29954	HP:0001305	Dandy-Walker malformation
OMIM:613153	POMT2	29954	HP:0001270	Motor delay
OMIM:613153	POMT2	29954	HP:0000589	Coloboma
OMIM:613153	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:613153	POMT2	29954	HP:0002093	Respiratory insufficiency
OMIM:613153	COL4A1	1282	HP:0001712	Left ventricular hypertrophy
OMIM:613153	COL4A1	1282	HP:0000541	Retinal detachment
OMIM:613153	COL4A1	1282	HP:0001302	Pachygyria
OMIM:613153	COL4A1	1282	HP:0000007	Autosomal recessive inheritance
OMIM:613153	COL4A1	1282	HP:0000545	Myopia
OMIM:613153	COL4A1	1282	HP:0000568	Microphthalmia
OMIM:613153	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	COL4A1	1282	HP:0003577	Congenital onset
OMIM:613153	COL4A1	1282	HP:0002187	Intellectual disability, profound
OMIM:613153	COL4A1	1282	HP:0006829	Severe muscular hypotonia
OMIM:613153	COL4A1	1282	HP:0012110	Hypoplasia of the pons
OMIM:613153	COL4A1	1282	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:613153	COL4A1	1282	HP:0007957	Corneal opacity
OMIM:613153	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:613153	COL4A1	1282	HP:0003560	Muscular dystrophy
OMIM:613153	COL4A1	1282	HP:0003819	Death in childhood
OMIM:613153	COL4A1	1282	HP:0007033	Cerebellar dysplasia
OMIM:613153	COL4A1	1282	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	COL4A1	1282	HP:0001305	Dandy-Walker malformation
OMIM:613153	COL4A1	1282	HP:0001270	Motor delay
OMIM:613153	COL4A1	1282	HP:0000589	Coloboma
OMIM:613153	COL4A1	1282	HP:0001321	Cerebellar hypoplasia
OMIM:613153	COL4A1	1282	HP:0002093	Respiratory insufficiency
OMIM:613153	POMK	84197	HP:0001712	Left ventricular hypertrophy
OMIM:613153	POMK	84197	HP:0000541	Retinal detachment
OMIM:613153	POMK	84197	HP:0001302	Pachygyria
OMIM:613153	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:613153	POMK	84197	HP:0000545	Myopia
OMIM:613153	POMK	84197	HP:0000568	Microphthalmia
OMIM:613153	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	POMK	84197	HP:0003577	Congenital onset
OMIM:613153	POMK	84197	HP:0002187	Intellectual disability, profound
OMIM:613153	POMK	84197	HP:0006829	Severe muscular hypotonia
OMIM:613153	POMK	84197	HP:0012110	Hypoplasia of the pons
OMIM:613153	POMK	84197	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:613153	POMK	84197	HP:0007957	Corneal opacity
OMIM:613153	POMK	84197	HP:0000238	Hydrocephalus
OMIM:613153	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:613153	POMK	84197	HP:0003819	Death in childhood
OMIM:613153	POMK	84197	HP:0007033	Cerebellar dysplasia
OMIM:613153	POMK	84197	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	POMK	84197	HP:0001305	Dandy-Walker malformation
OMIM:613153	POMK	84197	HP:0001270	Motor delay
OMIM:613153	POMK	84197	HP:0000589	Coloboma
OMIM:613153	POMK	84197	HP:0001321	Cerebellar hypoplasia
OMIM:613153	POMK	84197	HP:0002093	Respiratory insufficiency
OMIM:613153	GMPPB	29925	HP:0001712	Left ventricular hypertrophy
OMIM:613153	GMPPB	29925	HP:0000541	Retinal detachment
OMIM:613153	GMPPB	29925	HP:0001302	Pachygyria
OMIM:613153	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:613153	GMPPB	29925	HP:0000545	Myopia
OMIM:613153	GMPPB	29925	HP:0000568	Microphthalmia
OMIM:613153	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	GMPPB	29925	HP:0003577	Congenital onset
OMIM:613153	GMPPB	29925	HP:0002187	Intellectual disability, profound
OMIM:613153	GMPPB	29925	HP:0006829	Severe muscular hypotonia
OMIM:613153	GMPPB	29925	HP:0012110	Hypoplasia of the pons
OMIM:613153	GMPPB	29925	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	GMPPB	29925	HP:0007260	Type II lissencephaly
OMIM:613153	GMPPB	29925	HP:0007957	Corneal opacity
OMIM:613153	GMPPB	29925	HP:0000238	Hydrocephalus
OMIM:613153	GMPPB	29925	HP:0003560	Muscular dystrophy
OMIM:613153	GMPPB	29925	HP:0003819	Death in childhood
OMIM:613153	GMPPB	29925	HP:0007033	Cerebellar dysplasia
OMIM:613153	GMPPB	29925	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	GMPPB	29925	HP:0001305	Dandy-Walker malformation
OMIM:613153	GMPPB	29925	HP:0001270	Motor delay
OMIM:613153	GMPPB	29925	HP:0000589	Coloboma
OMIM:613153	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:613153	GMPPB	29925	HP:0002093	Respiratory insufficiency
OMIM:613153	DAG1	1605	HP:0001712	Left ventricular hypertrophy
OMIM:613153	DAG1	1605	HP:0000541	Retinal detachment
OMIM:613153	DAG1	1605	HP:0001302	Pachygyria
OMIM:613153	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:613153	DAG1	1605	HP:0000545	Myopia
OMIM:613153	DAG1	1605	HP:0000568	Microphthalmia
OMIM:613153	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	DAG1	1605	HP:0003577	Congenital onset
OMIM:613153	DAG1	1605	HP:0002187	Intellectual disability, profound
OMIM:613153	DAG1	1605	HP:0006829	Severe muscular hypotonia
OMIM:613153	DAG1	1605	HP:0012110	Hypoplasia of the pons
OMIM:613153	DAG1	1605	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:613153	DAG1	1605	HP:0007957	Corneal opacity
OMIM:613153	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:613153	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:613153	DAG1	1605	HP:0003819	Death in childhood
OMIM:613153	DAG1	1605	HP:0007033	Cerebellar dysplasia
OMIM:613153	DAG1	1605	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	DAG1	1605	HP:0001305	Dandy-Walker malformation
OMIM:613153	DAG1	1605	HP:0001270	Motor delay
OMIM:613153	DAG1	1605	HP:0000589	Coloboma
OMIM:613153	DAG1	1605	HP:0001321	Cerebellar hypoplasia
OMIM:613153	DAG1	1605	HP:0002093	Respiratory insufficiency
OMIM:613153	POMGNT1	55624	HP:0001712	Left ventricular hypertrophy
OMIM:613153	POMGNT1	55624	HP:0000541	Retinal detachment
OMIM:613153	POMGNT1	55624	HP:0001302	Pachygyria
OMIM:613153	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:613153	POMGNT1	55624	HP:0000545	Myopia
OMIM:613153	POMGNT1	55624	HP:0000568	Microphthalmia
OMIM:613153	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	POMGNT1	55624	HP:0003577	Congenital onset
OMIM:613153	POMGNT1	55624	HP:0002187	Intellectual disability, profound
OMIM:613153	POMGNT1	55624	HP:0006829	Severe muscular hypotonia
OMIM:613153	POMGNT1	55624	HP:0012110	Hypoplasia of the pons
OMIM:613153	POMGNT1	55624	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:613153	POMGNT1	55624	HP:0007957	Corneal opacity
OMIM:613153	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:613153	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:613153	POMGNT1	55624	HP:0003819	Death in childhood
OMIM:613153	POMGNT1	55624	HP:0007033	Cerebellar dysplasia
OMIM:613153	POMGNT1	55624	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	POMGNT1	55624	HP:0001305	Dandy-Walker malformation
OMIM:613153	POMGNT1	55624	HP:0001270	Motor delay
OMIM:613153	POMGNT1	55624	HP:0000589	Coloboma
OMIM:613153	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:613153	POMGNT1	55624	HP:0002093	Respiratory insufficiency
OMIM:613153	FKRP	79147	HP:0001712	Left ventricular hypertrophy
OMIM:613153	FKRP	79147	HP:0000541	Retinal detachment
OMIM:613153	FKRP	79147	HP:0001302	Pachygyria
OMIM:613153	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:613153	FKRP	79147	HP:0000545	Myopia
OMIM:613153	FKRP	79147	HP:0000568	Microphthalmia
OMIM:613153	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	FKRP	79147	HP:0003577	Congenital onset
OMIM:613153	FKRP	79147	HP:0002187	Intellectual disability, profound
OMIM:613153	FKRP	79147	HP:0006829	Severe muscular hypotonia
OMIM:613153	FKRP	79147	HP:0012110	Hypoplasia of the pons
OMIM:613153	FKRP	79147	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:613153	FKRP	79147	HP:0007957	Corneal opacity
OMIM:613153	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:613153	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:613153	FKRP	79147	HP:0003819	Death in childhood
OMIM:613153	FKRP	79147	HP:0007033	Cerebellar dysplasia
OMIM:613153	FKRP	79147	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	FKRP	79147	HP:0001305	Dandy-Walker malformation
OMIM:613153	FKRP	79147	HP:0001270	Motor delay
OMIM:613153	FKRP	79147	HP:0000589	Coloboma
OMIM:613153	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:613153	FKRP	79147	HP:0002093	Respiratory insufficiency
OMIM:613153	FKTN	2218	HP:0001712	Left ventricular hypertrophy
OMIM:613153	FKTN	2218	HP:0000541	Retinal detachment
OMIM:613153	FKTN	2218	HP:0001302	Pachygyria
OMIM:613153	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:613153	FKTN	2218	HP:0000545	Myopia
OMIM:613153	FKTN	2218	HP:0000568	Microphthalmia
OMIM:613153	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	FKTN	2218	HP:0003577	Congenital onset
OMIM:613153	FKTN	2218	HP:0002187	Intellectual disability, profound
OMIM:613153	FKTN	2218	HP:0006829	Severe muscular hypotonia
OMIM:613153	FKTN	2218	HP:0012110	Hypoplasia of the pons
OMIM:613153	FKTN	2218	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:613153	FKTN	2218	HP:0007957	Corneal opacity
OMIM:613153	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:613153	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:613153	FKTN	2218	HP:0003819	Death in childhood
OMIM:613153	FKTN	2218	HP:0007033	Cerebellar dysplasia
OMIM:613153	FKTN	2218	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	FKTN	2218	HP:0001305	Dandy-Walker malformation
OMIM:613153	FKTN	2218	HP:0001270	Motor delay
OMIM:613153	FKTN	2218	HP:0000589	Coloboma
OMIM:613153	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:613153	FKTN	2218	HP:0002093	Respiratory insufficiency
OMIM:613153	ISPD	729920	HP:0001712	Left ventricular hypertrophy
OMIM:613153	ISPD	729920	HP:0000541	Retinal detachment
OMIM:613153	ISPD	729920	HP:0001302	Pachygyria
OMIM:613153	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:613153	ISPD	729920	HP:0000545	Myopia
OMIM:613153	ISPD	729920	HP:0000568	Microphthalmia
OMIM:613153	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	ISPD	729920	HP:0003577	Congenital onset
OMIM:613153	ISPD	729920	HP:0002187	Intellectual disability, profound
OMIM:613153	ISPD	729920	HP:0006829	Severe muscular hypotonia
OMIM:613153	ISPD	729920	HP:0012110	Hypoplasia of the pons
OMIM:613153	ISPD	729920	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:613153	ISPD	729920	HP:0007957	Corneal opacity
OMIM:613153	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:613153	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:613153	ISPD	729920	HP:0003819	Death in childhood
OMIM:613153	ISPD	729920	HP:0007033	Cerebellar dysplasia
OMIM:613153	ISPD	729920	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	ISPD	729920	HP:0001305	Dandy-Walker malformation
OMIM:613153	ISPD	729920	HP:0001270	Motor delay
OMIM:613153	ISPD	729920	HP:0000589	Coloboma
OMIM:613153	ISPD	729920	HP:0001321	Cerebellar hypoplasia
OMIM:613153	ISPD	729920	HP:0002093	Respiratory insufficiency
OMIM:613153	B3GALNT2	148789	HP:0001712	Left ventricular hypertrophy
OMIM:613153	B3GALNT2	148789	HP:0000541	Retinal detachment
OMIM:613153	B3GALNT2	148789	HP:0001302	Pachygyria
OMIM:613153	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:613153	B3GALNT2	148789	HP:0000545	Myopia
OMIM:613153	B3GALNT2	148789	HP:0000568	Microphthalmia
OMIM:613153	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	B3GALNT2	148789	HP:0003577	Congenital onset
OMIM:613153	B3GALNT2	148789	HP:0002187	Intellectual disability, profound
OMIM:613153	B3GALNT2	148789	HP:0006829	Severe muscular hypotonia
OMIM:613153	B3GALNT2	148789	HP:0012110	Hypoplasia of the pons
OMIM:613153	B3GALNT2	148789	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:613153	B3GALNT2	148789	HP:0007957	Corneal opacity
OMIM:613153	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:613153	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:613153	B3GALNT2	148789	HP:0003819	Death in childhood
OMIM:613153	B3GALNT2	148789	HP:0007033	Cerebellar dysplasia
OMIM:613153	B3GALNT2	148789	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	B3GALNT2	148789	HP:0001305	Dandy-Walker malformation
OMIM:613153	B3GALNT2	148789	HP:0001270	Motor delay
OMIM:613153	B3GALNT2	148789	HP:0000589	Coloboma
OMIM:613153	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:613153	B3GALNT2	148789	HP:0002093	Respiratory insufficiency
OMIM:613153	POMT1	10585	HP:0001712	Left ventricular hypertrophy
OMIM:613153	POMT1	10585	HP:0000541	Retinal detachment
OMIM:613153	POMT1	10585	HP:0001302	Pachygyria
OMIM:613153	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:613153	POMT1	10585	HP:0000545	Myopia
OMIM:613153	POMT1	10585	HP:0000568	Microphthalmia
OMIM:613153	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	POMT1	10585	HP:0003577	Congenital onset
OMIM:613153	POMT1	10585	HP:0002187	Intellectual disability, profound
OMIM:613153	POMT1	10585	HP:0006829	Severe muscular hypotonia
OMIM:613153	POMT1	10585	HP:0012110	Hypoplasia of the pons
OMIM:613153	POMT1	10585	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:613153	POMT1	10585	HP:0007957	Corneal opacity
OMIM:613153	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:613153	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:613153	POMT1	10585	HP:0003819	Death in childhood
OMIM:613153	POMT1	10585	HP:0007033	Cerebellar dysplasia
OMIM:613153	POMT1	10585	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	POMT1	10585	HP:0001305	Dandy-Walker malformation
OMIM:613153	POMT1	10585	HP:0001270	Motor delay
OMIM:613153	POMT1	10585	HP:0000589	Coloboma
OMIM:613153	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:613153	POMT1	10585	HP:0002093	Respiratory insufficiency
OMIM:613153	TMEM5	10329	HP:0001712	Left ventricular hypertrophy
OMIM:613153	TMEM5	10329	HP:0000541	Retinal detachment
OMIM:613153	TMEM5	10329	HP:0001302	Pachygyria
OMIM:613153	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:613153	TMEM5	10329	HP:0000545	Myopia
OMIM:613153	TMEM5	10329	HP:0000568	Microphthalmia
OMIM:613153	TMEM5	10329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	TMEM5	10329	HP:0003577	Congenital onset
OMIM:613153	TMEM5	10329	HP:0002187	Intellectual disability, profound
OMIM:613153	TMEM5	10329	HP:0006829	Severe muscular hypotonia
OMIM:613153	TMEM5	10329	HP:0012110	Hypoplasia of the pons
OMIM:613153	TMEM5	10329	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:613153	TMEM5	10329	HP:0007957	Corneal opacity
OMIM:613153	TMEM5	10329	HP:0000238	Hydrocephalus
OMIM:613153	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:613153	TMEM5	10329	HP:0003819	Death in childhood
OMIM:613153	TMEM5	10329	HP:0007033	Cerebellar dysplasia
OMIM:613153	TMEM5	10329	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	TMEM5	10329	HP:0001305	Dandy-Walker malformation
OMIM:613153	TMEM5	10329	HP:0001270	Motor delay
OMIM:613153	TMEM5	10329	HP:0000589	Coloboma
OMIM:613153	TMEM5	10329	HP:0001321	Cerebellar hypoplasia
OMIM:613153	TMEM5	10329	HP:0002093	Respiratory insufficiency
OMIM:613153	POMGNT2	84892	HP:0001712	Left ventricular hypertrophy
OMIM:613153	POMGNT2	84892	HP:0000541	Retinal detachment
OMIM:613153	POMGNT2	84892	HP:0001302	Pachygyria
OMIM:613153	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:613153	POMGNT2	84892	HP:0000545	Myopia
OMIM:613153	POMGNT2	84892	HP:0000568	Microphthalmia
OMIM:613153	POMGNT2	84892	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	POMGNT2	84892	HP:0003577	Congenital onset
OMIM:613153	POMGNT2	84892	HP:0002187	Intellectual disability, profound
OMIM:613153	POMGNT2	84892	HP:0006829	Severe muscular hypotonia
OMIM:613153	POMGNT2	84892	HP:0012110	Hypoplasia of the pons
OMIM:613153	POMGNT2	84892	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:613153	POMGNT2	84892	HP:0007957	Corneal opacity
OMIM:613153	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:613153	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:613153	POMGNT2	84892	HP:0003819	Death in childhood
OMIM:613153	POMGNT2	84892	HP:0007033	Cerebellar dysplasia
OMIM:613153	POMGNT2	84892	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	POMGNT2	84892	HP:0001305	Dandy-Walker malformation
OMIM:613153	POMGNT2	84892	HP:0001270	Motor delay
OMIM:613153	POMGNT2	84892	HP:0000589	Coloboma
OMIM:613153	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
OMIM:613153	POMGNT2	84892	HP:0002093	Respiratory insufficiency
OMIM:613153	LARGE	9215	HP:0001712	Left ventricular hypertrophy
OMIM:613153	LARGE	9215	HP:0000541	Retinal detachment
OMIM:613153	LARGE	9215	HP:0001302	Pachygyria
OMIM:613153	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:613153	LARGE	9215	HP:0000545	Myopia
OMIM:613153	LARGE	9215	HP:0000568	Microphthalmia
OMIM:613153	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613153	LARGE	9215	HP:0003577	Congenital onset
OMIM:613153	LARGE	9215	HP:0002187	Intellectual disability, profound
OMIM:613153	LARGE	9215	HP:0006829	Severe muscular hypotonia
OMIM:613153	LARGE	9215	HP:0012110	Hypoplasia of the pons
OMIM:613153	LARGE	9215	HP:0002365	Hypoplasia of the brainstem
OMIM:613153	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:613153	LARGE	9215	HP:0007957	Corneal opacity
OMIM:613153	LARGE	9215	HP:0000238	Hydrocephalus
OMIM:613153	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:613153	LARGE	9215	HP:0003819	Death in childhood
OMIM:613153	LARGE	9215	HP:0007033	Cerebellar dysplasia
OMIM:613153	LARGE	9215	HP:0002500	Abnormality of the cerebral white matter
OMIM:613153	LARGE	9215	HP:0001305	Dandy-Walker malformation
OMIM:613153	LARGE	9215	HP:0001270	Motor delay
OMIM:613153	LARGE	9215	HP:0000589	Coloboma
OMIM:613153	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:613153	LARGE	9215	HP:0002093	Respiratory insufficiency
OMIM:165550	PAX6	5080	HP:0012795	Abnormality of the optic disc
OMIM:165550	PAX6	5080	HP:0007663	Reduced visual acuity
OMIM:165550	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:165550	PAX6	5080	HP:0000609	Optic nerve hypoplasia
OMIM:165550	PAX6	5080	HP:0000505	Visual impairment
OMIM:607734	NEFL	4747	HP:0000006	Autosomal dominant inheritance
OMIM:607734	NEFL	4747	HP:0002460	Distal muscle weakness
OMIM:607734	NEFL	4747	HP:0003693	Distal amyotrophy
OMIM:607734	NEFL	4747	HP:0001284	Areflexia
OMIM:607734	NEFL	4747	HP:0001761	Pes cavus
OMIM:607734	NEFL	4747	HP:0003621	Juvenile onset
OMIM:607734	NEFL	4747	HP:0001265	Hyporeflexia
OMIM:607734	NEFL	4747	HP:0001270	Motor delay
OMIM:607734	NEFL	4747	HP:0002936	Distal sensory impairment
OMIM:607734	NEFL	4747	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:607734	NEFL	4747	HP:0003828	Variable expressivity
OMIM:607734	NEFL	4747	HP:0003383	Onion bulb formation
OMIM:607734	NEFL	4747	HP:0000007	Autosomal recessive inheritance
OMIM:607734	NEFL	4747	HP:0003431	Decreased motor nerve conduction velocity
OMIM:607734	NEFL	4747	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:605285	HK1	3098	HP:0002355	Difficulty walking
OMIM:605285	HK1	3098	HP:0000007	Autosomal recessive inheritance
OMIM:605285	HK1	3098	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605285	HK1	3098	HP:0001265	Hyporeflexia
OMIM:605285	HK1	3098	HP:0003676	Progressive
OMIM:605285	HK1	3098	HP:0001760	Abnormality of the foot
OMIM:605285	HK1	3098	HP:0009830	Peripheral neuropathy
OMIM:605285	HK1	3098	HP:0002460	Distal muscle weakness
OMIM:605285	HK1	3098	HP:0007182	Peripheral hypomyelination
OMIM:605285	HK1	3098	HP:0001155	Abnormality of the hand
OMIM:605285	HK1	3098	HP:0002650	Scoliosis
OMIM:614152	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:614152	DIAPH1	1729	HP:0003676	Progressive
OMIM:614152	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:614152	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:614152	CEACAM16	388551	HP:0003676	Progressive
OMIM:614152	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:614152	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:614152	SLC17A8	246213	HP:0003676	Progressive
OMIM:614152	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:614152	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:614152	TJP2	9414	HP:0003676	Progressive
OMIM:614152	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:614152	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:614152	ACTG1	71	HP:0003676	Progressive
OMIM:614152	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:614152	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:614152	CCDC50	152137	HP:0003676	Progressive
OMIM:614152	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:614152	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:614152	MIR96	407053	HP:0003676	Progressive
OMIM:614152	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:614152	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:614152	GJB2	2706	HP:0003676	Progressive
OMIM:614152	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:614152	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:614152	POU4F3	5459	HP:0003676	Progressive
OMIM:614152	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:614152	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:614152	GJB3	2707	HP:0003676	Progressive
OMIM:614152	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:614152	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:614152	MYH9	4627	HP:0003676	Progressive
OMIM:614152	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:614152	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:614152	CRYM	1428	HP:0003676	Progressive
OMIM:614152	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:614152	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:614152	COL11A2	1302	HP:0003676	Progressive
OMIM:614152	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:614152	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:614152	EYA4	2070	HP:0003676	Progressive
OMIM:614152	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:614152	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:614152	DFNA5	1687	HP:0003676	Progressive
OMIM:614152	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:614152	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:614152	DIAPH3	81624	HP:0003676	Progressive
OMIM:614152	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:614152	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:614152	TMC1	117531	HP:0003676	Progressive
OMIM:614152	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:614152	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:614152	COCH	1690	HP:0003676	Progressive
OMIM:614152	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:614152	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:614152	OSBPL2	9885	HP:0003676	Progressive
OMIM:614152	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:614152	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:614152	SIX1	6495	HP:0003676	Progressive
OMIM:614152	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:614152	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:614152	TECTA	7007	HP:0003676	Progressive
OMIM:614152	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:614152	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:614152	MYO1A	4640	HP:0003676	Progressive
OMIM:614152	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:614152	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:614152	MYO1C	4641	HP:0003676	Progressive
OMIM:614152	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:614152	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:614152	MYO6	4646	HP:0003676	Progressive
OMIM:614152	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:614152	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:614152	MYO7A	4647	HP:0003676	Progressive
OMIM:614152	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:614152	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:614152	DIABLO	56616	HP:0003676	Progressive
OMIM:614152	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:614152	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:614152	GRHL2	79977	HP:0003676	Progressive
OMIM:614152	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:614152	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:614152	MYH14	79784	HP:0003676	Progressive
OMIM:614152	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:614152	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:614152	P2RX2	22953	HP:0003676	Progressive
OMIM:614152	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:614152	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:614152	WFS1	7466	HP:0003676	Progressive
OMIM:614152	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:614152	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:614152	TNC	3371	HP:0003676	Progressive
OMIM:614152	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:614152	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:614152	KCNQ4	9132	HP:0003676	Progressive
OMIM:614152	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:614152	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:614152	HOMER2	9455	HP:0003676	Progressive
OMIM:614152	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:614152	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:614152	GJB6	10804	HP:0003676	Progressive
OMIM:614152	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:614152	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:614152	TBC1D24	57465	HP:0003676	Progressive
OMIM:614152	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:614008	BANF1	8815	HP:0002973	Abnormality of the forearm
OMIM:614008	BANF1	8815	HP:0000520	Proptosis
OMIM:614008	BANF1	8815	HP:0010537	Wide cranial sutures
OMIM:614008	BANF1	8815	HP:0004322	Short stature
OMIM:614008	BANF1	8815	HP:0100578	Lipoatrophy
OMIM:614008	BANF1	8815	HP:0000772	Abnormality of the ribs
OMIM:614008	BANF1	8815	HP:0001508	Failure to thrive
OMIM:614008	BANF1	8815	HP:0002650	Scoliosis
OMIM:614008	BANF1	8815	HP:0000007	Autosomal recessive inheritance
OMIM:614008	BANF1	8815	HP:0000272	Malar flattening
OMIM:614008	BANF1	8815	HP:0000347	Micrognathia
OMIM:614008	BANF1	8815	HP:0011800	Hypoplasia of midface
OMIM:614008	BANF1	8815	HP:0001387	Joint stiffness
OMIM:614008	BANF1	8815	HP:0000535	Sparse eyebrow
OMIM:614008	BANF1	8815	HP:0000939	Osteoporosis
OMIM:614008	BANF1	8815	HP:0002621	Atherosclerosis
OMIM:614008	BANF1	8815	HP:0000444	Convex nasal ridge
OMIM:614008	BANF1	8815	HP:0000653	Sparse eyelashes
OMIM:614008	BANF1	8815	HP:0000678	Dental crowding
OMIM:614008	BANF1	8815	HP:0001371	Flexion contracture
OMIM:600072	PRNP	5621	HP:0001251	Ataxia
OMIM:600072	PRNP	5621	HP:0001336	Myoclonus
OMIM:600072	PRNP	5621	HP:0000726	Dementia
OMIM:600072	PRNP	5621	HP:0001945	Fever
OMIM:600072	PRNP	5621	HP:0000006	Autosomal dominant inheritance
OMIM:600072	PRNP	5621	HP:0001824	Weight loss
OMIM:600072	PRNP	5621	HP:0002104	Apnea
OMIM:600072	PRNP	5621	HP:0001260	Dysarthria
OMIM:600072	PRNP	5621	HP:0003581	Adult onset
OMIM:600072	PRNP	5621	HP:0100785	Insomnia
OMIM:600072	PRNP	5621	HP:0002015	Dysphagia
OMIM:600072	PRNP	5621	HP:0011463	Childhood onset
OMIM:600072	PRNP	5621	HP:0002529	Neuronal loss in central nervous system
OMIM:600072	PRNP	5621	HP:0002019	Constipation
OMIM:600072	PRNP	5621	HP:0000975	Hyperhidrosis
OMIM:608805	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:613874	PLN	5350	HP:0005110	Atrial fibrillation
OMIM:613874	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:613874	PLN	5350	HP:0001638	Cardiomyopathy
OMIM:613874	PLN	5350	HP:0001712	Left ventricular hypertrophy
OMIM:614298	C19ORF12	83636	HP:0001337	Tremor
OMIM:614298	C19ORF12	83636	HP:0001260	Dysarthria
OMIM:614298	C19ORF12	83636	HP:0001251	Ataxia
OMIM:614298	C19ORF12	83636	HP:0000648	Optic atrophy
OMIM:614298	C19ORF12	83636	HP:0001265	Hyporeflexia
OMIM:614298	C19ORF12	83636	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614298	C19ORF12	83636	HP:0001761	Pes cavus
OMIM:614298	C19ORF12	83636	HP:0003691	Scapular winging
OMIM:614298	C19ORF12	83636	HP:0002460	Distal muscle weakness
OMIM:614298	C19ORF12	83636	HP:0001347	Hyperreflexia
OMIM:614298	C19ORF12	83636	HP:0003676	Progressive
OMIM:614298	C19ORF12	83636	HP:0000007	Autosomal recessive inheritance
OMIM:614298	C19ORF12	83636	HP:0000726	Dementia
OMIM:614298	C19ORF12	83636	HP:0001288	Gait disturbance
OMIM:614298	C19ORF12	83636	HP:0000529	Progressive visual loss
OMIM:614298	C19ORF12	83636	HP:0003812	Phenotypic variability
OMIM:614298	C19ORF12	83636	HP:0000712	Emotional lability
OMIM:614298	C19ORF12	83636	HP:0003487	Babinski sign
OMIM:614298	C19ORF12	83636	HP:0001263	Global developmental delay
OMIM:614298	C19ORF12	83636	HP:0001300	Parkinsonism
OMIM:614298	C19ORF12	83636	HP:0002180	Neurodegeneration
OMIM:614298	C19ORF12	83636	HP:0001257	Spasticity
OMIM:614298	C19ORF12	83636	HP:0002366	Abnormal lower motor neuron morphology
OMIM:614298	C19ORF12	83636	HP:0003693	Distal amyotrophy
OMIM:614298	C19ORF12	83636	HP:0000750	Delayed speech and language development
ORPHANET:888	IRF6	3664	HP:0000175	Cleft palate
ORPHANET:888	IRF6	3664	HP:0100335	Non-midline cleft lip
ORPHANET:888	IRF6	3664	HP:0009804	Reduced number of teeth
ORPHANET:888	GRHL3	57822	HP:0000175	Cleft palate
ORPHANET:888	GRHL3	57822	HP:0100335	Non-midline cleft lip
ORPHANET:888	GRHL3	57822	HP:0009804	Reduced number of teeth
OMIM:616325	MUSK	4593	HP:0003391	Gowers sign
OMIM:616325	MUSK	4593	HP:0000467	Neck muscle weakness
OMIM:616325	MUSK	4593	HP:0000508	Ptosis
OMIM:616325	MUSK	4593	HP:0001252	Muscular hypotonia
OMIM:616325	MUSK	4593	HP:0002093	Respiratory insufficiency
OMIM:616325	MUSK	4593	HP:0010628	Facial palsy
OMIM:616325	MUSK	4593	HP:0000602	Ophthalmoplegia
OMIM:616325	CHRNB1	1140	HP:0003391	Gowers sign
OMIM:616325	CHRNB1	1140	HP:0000467	Neck muscle weakness
OMIM:616325	CHRNB1	1140	HP:0000508	Ptosis
OMIM:616325	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:616325	CHRNB1	1140	HP:0002093	Respiratory insufficiency
OMIM:616325	CHRNB1	1140	HP:0010628	Facial palsy
OMIM:616325	CHRNB1	1140	HP:0000602	Ophthalmoplegia
OMIM:616325	DOK7	285489	HP:0003391	Gowers sign
OMIM:616325	DOK7	285489	HP:0000467	Neck muscle weakness
OMIM:616325	DOK7	285489	HP:0000508	Ptosis
OMIM:616325	DOK7	285489	HP:0001252	Muscular hypotonia
OMIM:616325	DOK7	285489	HP:0002093	Respiratory insufficiency
OMIM:616325	DOK7	285489	HP:0010628	Facial palsy
OMIM:616325	DOK7	285489	HP:0000602	Ophthalmoplegia
OMIM:616325	LRP4	4038	HP:0003391	Gowers sign
OMIM:616325	LRP4	4038	HP:0000467	Neck muscle weakness
OMIM:616325	LRP4	4038	HP:0000508	Ptosis
OMIM:616325	LRP4	4038	HP:0001252	Muscular hypotonia
OMIM:616325	LRP4	4038	HP:0002093	Respiratory insufficiency
OMIM:616325	LRP4	4038	HP:0010628	Facial palsy
OMIM:616325	LRP4	4038	HP:0000602	Ophthalmoplegia
OMIM:616325	CHRND	1144	HP:0003391	Gowers sign
OMIM:616325	CHRND	1144	HP:0000467	Neck muscle weakness
OMIM:616325	CHRND	1144	HP:0000508	Ptosis
OMIM:616325	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:616325	CHRND	1144	HP:0002093	Respiratory insufficiency
OMIM:616325	CHRND	1144	HP:0010628	Facial palsy
OMIM:616325	CHRND	1144	HP:0000602	Ophthalmoplegia
OMIM:616325	RAPSN	5913	HP:0003391	Gowers sign
OMIM:616325	RAPSN	5913	HP:0000467	Neck muscle weakness
OMIM:616325	RAPSN	5913	HP:0000508	Ptosis
OMIM:616325	RAPSN	5913	HP:0001252	Muscular hypotonia
OMIM:616325	RAPSN	5913	HP:0002093	Respiratory insufficiency
OMIM:616325	RAPSN	5913	HP:0010628	Facial palsy
OMIM:616325	RAPSN	5913	HP:0000602	Ophthalmoplegia
OMIM:616325	SCN4A	6329	HP:0003391	Gowers sign
OMIM:616325	SCN4A	6329	HP:0000467	Neck muscle weakness
OMIM:616325	SCN4A	6329	HP:0000508	Ptosis
OMIM:616325	SCN4A	6329	HP:0001252	Muscular hypotonia
OMIM:616325	SCN4A	6329	HP:0002093	Respiratory insufficiency
OMIM:616325	SCN4A	6329	HP:0010628	Facial palsy
OMIM:616325	SCN4A	6329	HP:0000602	Ophthalmoplegia
OMIM:616325	CHRNE	1145	HP:0003391	Gowers sign
OMIM:616325	CHRNE	1145	HP:0000467	Neck muscle weakness
OMIM:616325	CHRNE	1145	HP:0000508	Ptosis
OMIM:616325	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:616325	CHRNE	1145	HP:0002093	Respiratory insufficiency
OMIM:616325	CHRNE	1145	HP:0010628	Facial palsy
OMIM:616325	CHRNE	1145	HP:0000602	Ophthalmoplegia
OMIM:616325	AGRN	375790	HP:0003391	Gowers sign
OMIM:616325	AGRN	375790	HP:0000467	Neck muscle weakness
OMIM:616325	AGRN	375790	HP:0000508	Ptosis
OMIM:616325	AGRN	375790	HP:0001252	Muscular hypotonia
OMIM:616325	AGRN	375790	HP:0002093	Respiratory insufficiency
OMIM:616325	AGRN	375790	HP:0010628	Facial palsy
OMIM:616325	AGRN	375790	HP:0000602	Ophthalmoplegia
OMIM:616325	CHRNA1	1134	HP:0003391	Gowers sign
OMIM:616325	CHRNA1	1134	HP:0000467	Neck muscle weakness
OMIM:616325	CHRNA1	1134	HP:0000508	Ptosis
OMIM:616325	CHRNA1	1134	HP:0001252	Muscular hypotonia
OMIM:616325	CHRNA1	1134	HP:0002093	Respiratory insufficiency
OMIM:616325	CHRNA1	1134	HP:0010628	Facial palsy
OMIM:616325	CHRNA1	1134	HP:0000602	Ophthalmoplegia
OMIM:264800	ABCC6	368	HP:0001723	Restrictive cardiomyopathy
OMIM:264800	ABCC6	368	HP:0000153	Abnormality of the mouth
OMIM:264800	ABCC6	368	HP:0000608	Macular degeneration
OMIM:264800	ABCC6	368	HP:0100817	Renovascular hypertension
OMIM:264800	ABCC6	368	HP:0001718	Mitral stenosis
OMIM:264800	ABCC6	368	HP:0000505	Visual impairment
OMIM:264800	ABCC6	368	HP:0001102	Angioid streaks of the retina
OMIM:264800	ABCC6	368	HP:0000083	Renal insufficiency
OMIM:264800	ABCC6	368	HP:0001034	Hypermelanotic macule
OMIM:264800	ABCC6	368	HP:0001297	Stroke
OMIM:264800	ABCC6	368	HP:0001635	Congestive heart failure
OMIM:264800	ABCC6	368	HP:0002239	Gastrointestinal hemorrhage
OMIM:264800	ABCC6	368	HP:0000007	Autosomal recessive inheritance
OMIM:264800	ABCC6	368	HP:0001634	Mitral valve prolapse
OMIM:264800	ABCC6	368	HP:0007663	Reduced visual acuity
OMIM:264800	ENPP1	5167	HP:0001723	Restrictive cardiomyopathy
OMIM:264800	ENPP1	5167	HP:0000153	Abnormality of the mouth
OMIM:264800	ENPP1	5167	HP:0000608	Macular degeneration
OMIM:264800	ENPP1	5167	HP:0100817	Renovascular hypertension
OMIM:264800	ENPP1	5167	HP:0001718	Mitral stenosis
OMIM:264800	ENPP1	5167	HP:0000505	Visual impairment
OMIM:264800	ENPP1	5167	HP:0001102	Angioid streaks of the retina
OMIM:264800	ENPP1	5167	HP:0000083	Renal insufficiency
OMIM:264800	ENPP1	5167	HP:0001034	Hypermelanotic macule
OMIM:264800	ENPP1	5167	HP:0001297	Stroke
OMIM:264800	ENPP1	5167	HP:0001635	Congestive heart failure
OMIM:264800	ENPP1	5167	HP:0002239	Gastrointestinal hemorrhage
OMIM:264800	ENPP1	5167	HP:0000007	Autosomal recessive inheritance
OMIM:264800	ENPP1	5167	HP:0001634	Mitral valve prolapse
OMIM:264800	ENPP1	5167	HP:0007663	Reduced visual acuity
OMIM:253600	CAPN3	825	HP:0002355	Difficulty walking
OMIM:253600	CAPN3	825	HP:0007126	Proximal amyotrophy
OMIM:253600	CAPN3	825	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253600	CAPN3	825	HP:0010628	Facial palsy
OMIM:253600	CAPN3	825	HP:0003560	Muscular dystrophy
OMIM:253600	CAPN3	825	HP:0000007	Autosomal recessive inheritance
OMIM:253600	CAPN3	825	HP:0003691	Scapular winging
OMIM:253600	CAPN3	825	HP:0001371	Flexion contracture
OMIM:253600	CAPN3	825	HP:0001880	Eosinophilia
OMIM:614744	HOXB1	3211	HP:0010628	Facial palsy
OMIM:614744	HOXB1	3211	HP:0000319	Smooth philtrum
OMIM:614744	HOXB1	3211	HP:0000007	Autosomal recessive inheritance
OMIM:614744	HOXB1	3211	HP:0000463	Anteverted nares
OMIM:614744	HOXB1	3211	HP:0000347	Micrognathia
OMIM:614744	HOXB1	3211	HP:0000358	Posteriorly rotated ears
OMIM:614744	HOXB1	3211	HP:0003680	Nonprogressive
OMIM:614744	HOXB1	3211	HP:0000369	Low-set ears
OMIM:614744	HOXB1	3211	HP:0000565	Esotropia
OMIM:614744	HOXB1	3211	HP:0011800	Hypoplasia of midface
OMIM:231530	HADH	3033	HP:0000007	Autosomal recessive inheritance
OMIM:231530	HADH	3033	HP:0002913	Myoglobinuria
OMIM:231530	HADH	3033	HP:0001397	Hepatic steatosis
OMIM:231530	HADH	3033	HP:0008872	Feeding difficulties in infancy
OMIM:231530	HADH	3033	HP:0001644	Dilated cardiomyopathy
OMIM:231530	HADH	3033	HP:0002605	Hepatic necrosis
OMIM:231530	HADH	3033	HP:0003215	Dicarboxylic aciduria
OMIM:231530	HADH	3033	HP:0001639	Hypertrophic cardiomyopathy
OMIM:231530	HADH	3033	HP:0001510	Growth delay
OMIM:231530	HADH	3033	HP:0003812	Phenotypic variability
OMIM:231530	HADH	3033	HP:0001252	Muscular hypotonia
OMIM:311010	ARAF	369	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:311010	ARAF	369	HP:0100242	Sarcoma
OMIM:311010	ARAF	369	HP:0001417	X-linked inheritance
OMIM:615731	KLHL41	10324	HP:0000347	Micrognathia
OMIM:615731	KLHL41	10324	HP:0001324	Muscle weakness
OMIM:615731	KLHL41	10324	HP:0002093	Respiratory insufficiency
OMIM:615731	KLHL41	10324	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615731	KLHL41	10324	HP:0000774	Narrow chest
OMIM:615731	KLHL41	10324	HP:0000175	Cleft palate
OMIM:615731	KLHL41	10324	HP:0000218	High palate
OMIM:615731	KLHL41	10324	HP:0000007	Autosomal recessive inheritance
OMIM:615731	KLHL41	10324	HP:0002650	Scoliosis
OMIM:615731	KLHL41	10324	HP:0003828	Variable expressivity
OMIM:615731	KLHL41	10324	HP:0001270	Motor delay
OMIM:266120	NT5C3A	51251	HP:0001878	Hemolytic anemia
OMIM:266120	NT5C3A	51251	HP:0000007	Autosomal recessive inheritance
OMIM:123150	FGFR1	2260	HP:0001841	Preaxial foot polydactyly
OMIM:123150	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:123150	FGFR1	2260	HP:0002007	Frontal bossing
OMIM:123150	FGFR1	2260	HP:0000444	Convex nasal ridge
OMIM:123150	FGFR1	2260	HP:0002991	Abnormality of the fibula
OMIM:123150	FGFR1	2260	HP:0000272	Malar flattening
OMIM:123150	FGFR1	2260	HP:0000508	Ptosis
OMIM:123150	FGFR1	2260	HP:0000486	Strabismus
OMIM:123150	FGFR1	2260	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:123150	FGFR1	2260	HP:0000174	Abnormality of the palate
OMIM:123150	FGFR1	2260	HP:0009891	Underdeveloped supraorbital ridges
OMIM:123150	FGFR1	2260	HP:0001363	Craniosynostosis
OMIM:123150	FGFR1	2260	HP:0010743	Short metatarsal
OMIM:123150	FGFR1	2260	HP:0004691	2-3 toe syndactyly
OMIM:123150	FGFR1	2260	HP:0000520	Proptosis
OMIM:123150	FGFR1	2260	HP:0006101	Finger syndactyly
OMIM:123150	FGFR1	2260	HP:0010055	Broad hallux
OMIM:123150	FGFR1	2260	HP:0001770	Toe syndactyly
OMIM:123150	FGFR1	2260	HP:0000303	Mandibular prognathia
OMIM:123150	FGFR1	2260	HP:0000316	Hypertelorism
OMIM:123150	FGFR1	2260	HP:0008368	Tarsal synostosis
OMIM:123150	FGFR1	2260	HP:0011800	Hypoplasia of midface
OMIM:123150	FGFR2	2263	HP:0001841	Preaxial foot polydactyly
OMIM:123150	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:123150	FGFR2	2263	HP:0002007	Frontal bossing
OMIM:123150	FGFR2	2263	HP:0000444	Convex nasal ridge
OMIM:123150	FGFR2	2263	HP:0002991	Abnormality of the fibula
OMIM:123150	FGFR2	2263	HP:0000272	Malar flattening
OMIM:123150	FGFR2	2263	HP:0000508	Ptosis
OMIM:123150	FGFR2	2263	HP:0000486	Strabismus
OMIM:123150	FGFR2	2263	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:123150	FGFR2	2263	HP:0000174	Abnormality of the palate
OMIM:123150	FGFR2	2263	HP:0009891	Underdeveloped supraorbital ridges
OMIM:123150	FGFR2	2263	HP:0001363	Craniosynostosis
OMIM:123150	FGFR2	2263	HP:0010743	Short metatarsal
OMIM:123150	FGFR2	2263	HP:0004691	2-3 toe syndactyly
OMIM:123150	FGFR2	2263	HP:0000520	Proptosis
OMIM:123150	FGFR2	2263	HP:0006101	Finger syndactyly
OMIM:123150	FGFR2	2263	HP:0010055	Broad hallux
OMIM:123150	FGFR2	2263	HP:0001770	Toe syndactyly
OMIM:123150	FGFR2	2263	HP:0000303	Mandibular prognathia
OMIM:123150	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:123150	FGFR2	2263	HP:0008368	Tarsal synostosis
OMIM:123150	FGFR2	2263	HP:0011800	Hypoplasia of midface
OMIM:615683	ENTPD1	953	HP:0000519	Congenital cataract
OMIM:615683	ENTPD1	953	HP:0000252	Microcephaly
OMIM:615683	ENTPD1	953	HP:0001288	Gait disturbance
OMIM:615683	ENTPD1	953	HP:0002500	Abnormality of the cerebral white matter
OMIM:615683	ENTPD1	953	HP:0001249	Intellectual disability
OMIM:615683	ENTPD1	953	HP:0001260	Dysarthria
OMIM:615683	ENTPD1	953	HP:0000007	Autosomal recessive inheritance
OMIM:615683	ENTPD1	953	HP:0001762	Talipes equinovarus
OMIM:615683	ENTPD1	953	HP:0001258	Spastic paraplegia
OMIM:615683	ENTPD1	953	HP:0003202	Skeletal muscle atrophy
OMIM:230500	GLB1	2720	HP:0003510	Severe short stature
OMIM:230500	GLB1	2720	HP:0000900	Thickened ribs
OMIM:230500	GLB1	2720	HP:0000457	Depressed nasal ridge
OMIM:230500	GLB1	2720	HP:0000316	Hypertelorism
OMIM:230500	GLB1	2720	HP:0000007	Autosomal recessive inheritance
OMIM:230500	GLB1	2720	HP:0000212	Gingival overgrowth
OMIM:230500	GLB1	2720	HP:0001744	Splenomegaly
OMIM:230500	GLB1	2720	HP:0000079	Abnormality of the urinary system
OMIM:230500	GLB1	2720	HP:0001654	Abnormality of the heart valves
OMIM:230500	GLB1	2720	HP:0001644	Dilated cardiomyopathy
OMIM:230500	GLB1	2720	HP:0002808	Kyphosis
OMIM:230500	GLB1	2720	HP:0000023	Inguinal hernia
OMIM:230500	GLB1	2720	HP:0002007	Frontal bossing
OMIM:230500	GLB1	2720	HP:0002240	Hepatomegaly
OMIM:230500	GLB1	2720	HP:0001249	Intellectual disability
OMIM:230500	GLB1	2720	HP:0001522	Death in infancy
OMIM:230500	GLB1	2720	HP:0001639	Hypertrophic cardiomyopathy
OMIM:230500	GLB1	2720	HP:0000998	Hypertrichosis
OMIM:230500	GLB1	2720	HP:0001635	Congestive heart failure
OMIM:230500	GLB1	2720	HP:0001387	Joint stiffness
OMIM:230500	GLB1	2720	HP:0000470	Short neck
OMIM:230500	GLB1	2720	HP:0002650	Scoliosis
OMIM:230500	GLB1	2720	HP:0000280	Coarse facial features
OMIM:610539	PSAP	5660	HP:0000938	Osteopenia
OMIM:610539	PSAP	5660	HP:0001903	Anemia
OMIM:610539	PSAP	5660	HP:0000007	Autosomal recessive inheritance
OMIM:610539	PSAP	5660	HP:0001433	Hepatosplenomegaly
OMIM:610539	PSAP	5660	HP:0001873	Thrombocytopenia
OMIM:610539	PSAP	5660	HP:0001336	Myoclonus
OMIM:610539	PSAP	5660	HP:0001250	Seizures
OMIM:613958	SPATA16	83893	HP:0000007	Autosomal recessive inheritance
OMIM:613958	SPATA16	83893	HP:0012205	Globozoospermia
OMIM:613958	PICK1	9463	HP:0000007	Autosomal recessive inheritance
OMIM:613958	PICK1	9463	HP:0012205	Globozoospermia
OMIM:613958	NANOS1	340719	HP:0000007	Autosomal recessive inheritance
OMIM:613958	NANOS1	340719	HP:0012205	Globozoospermia
OMIM:613958	DPY19L2	283417	HP:0000007	Autosomal recessive inheritance
OMIM:613958	DPY19L2	283417	HP:0012205	Globozoospermia
OMIM:616193	METTL23	124512	HP:0001252	Muscular hypotonia
OMIM:616193	METTL23	124512	HP:0002465	Poor speech
OMIM:616193	METTL23	124512	HP:0001249	Intellectual disability
OMIM:616193	METTL23	124512	HP:0001263	Global developmental delay
OMIM:616193	METTL23	124512	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	CRADD	8738	HP:0001252	Muscular hypotonia
OMIM:616193	CRADD	8738	HP:0002465	Poor speech
OMIM:616193	CRADD	8738	HP:0001249	Intellectual disability
OMIM:616193	CRADD	8738	HP:0001263	Global developmental delay
OMIM:616193	CRADD	8738	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	FMN2	56776	HP:0001252	Muscular hypotonia
OMIM:616193	FMN2	56776	HP:0002465	Poor speech
OMIM:616193	FMN2	56776	HP:0001249	Intellectual disability
OMIM:616193	FMN2	56776	HP:0001263	Global developmental delay
OMIM:616193	FMN2	56776	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	NSUN2	54888	HP:0001252	Muscular hypotonia
OMIM:616193	NSUN2	54888	HP:0002465	Poor speech
OMIM:616193	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:616193	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:616193	NSUN2	54888	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	CLIP1	6249	HP:0001252	Muscular hypotonia
OMIM:616193	CLIP1	6249	HP:0002465	Poor speech
OMIM:616193	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:616193	CLIP1	6249	HP:0001263	Global developmental delay
OMIM:616193	CLIP1	6249	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	ZC3H14	79882	HP:0001252	Muscular hypotonia
OMIM:616193	ZC3H14	79882	HP:0002465	Poor speech
OMIM:616193	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:616193	ZC3H14	79882	HP:0001263	Global developmental delay
OMIM:616193	ZC3H14	79882	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	PRSS12	8492	HP:0001252	Muscular hypotonia
OMIM:616193	PRSS12	8492	HP:0002465	Poor speech
OMIM:616193	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:616193	PRSS12	8492	HP:0001263	Global developmental delay
OMIM:616193	PRSS12	8492	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	LINS1	55180	HP:0001252	Muscular hypotonia
OMIM:616193	LINS1	55180	HP:0002465	Poor speech
OMIM:616193	LINS1	55180	HP:0001249	Intellectual disability
OMIM:616193	LINS1	55180	HP:0001263	Global developmental delay
OMIM:616193	LINS1	55180	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	NDST1	3340	HP:0001252	Muscular hypotonia
OMIM:616193	NDST1	3340	HP:0002465	Poor speech
OMIM:616193	NDST1	3340	HP:0001249	Intellectual disability
OMIM:616193	NDST1	3340	HP:0001263	Global developmental delay
OMIM:616193	NDST1	3340	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	CC2D1A	54862	HP:0001252	Muscular hypotonia
OMIM:616193	CC2D1A	54862	HP:0002465	Poor speech
OMIM:616193	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:616193	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:616193	CC2D1A	54862	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	FBXO31	79791	HP:0001252	Muscular hypotonia
OMIM:616193	FBXO31	79791	HP:0002465	Poor speech
OMIM:616193	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:616193	FBXO31	79791	HP:0001263	Global developmental delay
OMIM:616193	FBXO31	79791	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	CRBN	51185	HP:0001252	Muscular hypotonia
OMIM:616193	CRBN	51185	HP:0002465	Poor speech
OMIM:616193	CRBN	51185	HP:0001249	Intellectual disability
OMIM:616193	CRBN	51185	HP:0001263	Global developmental delay
OMIM:616193	CRBN	51185	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	TRAPPC9	83696	HP:0001252	Muscular hypotonia
OMIM:616193	TRAPPC9	83696	HP:0002465	Poor speech
OMIM:616193	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:616193	TRAPPC9	83696	HP:0001263	Global developmental delay
OMIM:616193	TRAPPC9	83696	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	GRIK2	2898	HP:0001252	Muscular hypotonia
OMIM:616193	GRIK2	2898	HP:0002465	Poor speech
OMIM:616193	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:616193	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:616193	GRIK2	2898	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	SLC6A17	388662	HP:0001252	Muscular hypotonia
OMIM:616193	SLC6A17	388662	HP:0002465	Poor speech
OMIM:616193	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:616193	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:616193	SLC6A17	388662	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	TECR	9524	HP:0001252	Muscular hypotonia
OMIM:616193	TECR	9524	HP:0002465	Poor speech
OMIM:616193	TECR	9524	HP:0001249	Intellectual disability
OMIM:616193	TECR	9524	HP:0001263	Global developmental delay
OMIM:616193	TECR	9524	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	MAN1B1	11253	HP:0001252	Muscular hypotonia
OMIM:616193	MAN1B1	11253	HP:0002465	Poor speech
OMIM:616193	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:616193	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:616193	MAN1B1	11253	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	TUSC3	7991	HP:0001252	Muscular hypotonia
OMIM:616193	TUSC3	7991	HP:0002465	Poor speech
OMIM:616193	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:616193	TUSC3	7991	HP:0001263	Global developmental delay
OMIM:616193	TUSC3	7991	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	ST3GAL3	6487	HP:0001252	Muscular hypotonia
OMIM:616193	ST3GAL3	6487	HP:0002465	Poor speech
OMIM:616193	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:616193	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:616193	ST3GAL3	6487	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	EDC3	80153	HP:0001252	Muscular hypotonia
OMIM:616193	EDC3	80153	HP:0002465	Poor speech
OMIM:616193	EDC3	80153	HP:0001249	Intellectual disability
OMIM:616193	EDC3	80153	HP:0001263	Global developmental delay
OMIM:616193	EDC3	80153	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	MED13L	23389	HP:0001252	Muscular hypotonia
OMIM:616193	MED13L	23389	HP:0002465	Poor speech
OMIM:616193	MED13L	23389	HP:0001249	Intellectual disability
OMIM:616193	MED13L	23389	HP:0001263	Global developmental delay
OMIM:616193	MED13L	23389	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	KIAA1033	23325	HP:0001252	Muscular hypotonia
OMIM:616193	KIAA1033	23325	HP:0002465	Poor speech
OMIM:616193	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:616193	KIAA1033	23325	HP:0001263	Global developmental delay
OMIM:616193	KIAA1033	23325	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616193	MED23	9439	HP:0001252	Muscular hypotonia
OMIM:616193	MED23	9439	HP:0002465	Poor speech
OMIM:616193	MED23	9439	HP:0001249	Intellectual disability
OMIM:616193	MED23	9439	HP:0001263	Global developmental delay
OMIM:616193	MED23	9439	HP:0002384	Focal seizures with impairment of consciousness or awareness
ORPHANET:33110	BLNK	29760	HP:0001287	Meningitis
ORPHANET:33110	BLNK	29760	HP:0001392	Abnormality of the liver
ORPHANET:33110	BLNK	29760	HP:0000174	Abnormality of the palate
ORPHANET:33110	BLNK	29760	HP:0001944	Dehydration
ORPHANET:33110	BLNK	29760	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:33110	BLNK	29760	HP:0002754	Osteomyelitis
ORPHANET:33110	BLNK	29760	HP:0100806	Sepsis
ORPHANET:33110	BLNK	29760	HP:0000286	Epicanthus
ORPHANET:33110	BLNK	29760	HP:0001874	Abnormality of neutrophils
ORPHANET:33110	BLNK	29760	HP:0000316	Hypertelorism
ORPHANET:33110	BLNK	29760	HP:0100658	Cellulitis
ORPHANET:33110	BLNK	29760	HP:0001369	Arthritis
ORPHANET:33110	BLNK	29760	HP:0008572	External ear malformation
ORPHANET:33110	BLNK	29760	HP:0002024	Malabsorption
ORPHANET:33110	BLNK	29760	HP:0200042	Skin ulcer
ORPHANET:33110	BLNK	29760	HP:0000988	Skin rash
ORPHANET:33110	BLNK	29760	HP:0002109	Abnormality of the bronchi
ORPHANET:33110	BLNK	29760	HP:0004370	Abnormality of temperature regulation
ORPHANET:33110	BLNK	29760	HP:0000246	Sinusitis
ORPHANET:33110	BLNK	29760	HP:0002014	Diarrhea
ORPHANET:33110	BLNK	29760	HP:0002205	Recurrent respiratory infections
ORPHANET:33110	BLNK	29760	HP:0200043	Verrucae
ORPHANET:33110	BLNK	29760	HP:0000388	Otitis media
ORPHANET:33110	BLNK	29760	HP:0004313	Decreased antibody level in blood
ORPHANET:33110	TCF3	6929	HP:0001287	Meningitis
ORPHANET:33110	TCF3	6929	HP:0001392	Abnormality of the liver
ORPHANET:33110	TCF3	6929	HP:0000174	Abnormality of the palate
ORPHANET:33110	TCF3	6929	HP:0001944	Dehydration
ORPHANET:33110	TCF3	6929	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:33110	TCF3	6929	HP:0002754	Osteomyelitis
ORPHANET:33110	TCF3	6929	HP:0100806	Sepsis
ORPHANET:33110	TCF3	6929	HP:0000286	Epicanthus
ORPHANET:33110	TCF3	6929	HP:0001874	Abnormality of neutrophils
ORPHANET:33110	TCF3	6929	HP:0000316	Hypertelorism
ORPHANET:33110	TCF3	6929	HP:0100658	Cellulitis
ORPHANET:33110	TCF3	6929	HP:0001369	Arthritis
ORPHANET:33110	TCF3	6929	HP:0008572	External ear malformation
ORPHANET:33110	TCF3	6929	HP:0002024	Malabsorption
ORPHANET:33110	TCF3	6929	HP:0200042	Skin ulcer
ORPHANET:33110	TCF3	6929	HP:0000988	Skin rash
ORPHANET:33110	TCF3	6929	HP:0002109	Abnormality of the bronchi
ORPHANET:33110	TCF3	6929	HP:0004370	Abnormality of temperature regulation
ORPHANET:33110	TCF3	6929	HP:0000246	Sinusitis
ORPHANET:33110	TCF3	6929	HP:0002014	Diarrhea
ORPHANET:33110	TCF3	6929	HP:0002205	Recurrent respiratory infections
ORPHANET:33110	TCF3	6929	HP:0200043	Verrucae
ORPHANET:33110	TCF3	6929	HP:0000388	Otitis media
ORPHANET:33110	TCF3	6929	HP:0004313	Decreased antibody level in blood
ORPHANET:33110	IGHM	3507	HP:0001287	Meningitis
ORPHANET:33110	IGHM	3507	HP:0001392	Abnormality of the liver
ORPHANET:33110	IGHM	3507	HP:0000174	Abnormality of the palate
ORPHANET:33110	IGHM	3507	HP:0001944	Dehydration
ORPHANET:33110	IGHM	3507	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:33110	IGHM	3507	HP:0002754	Osteomyelitis
ORPHANET:33110	IGHM	3507	HP:0100806	Sepsis
ORPHANET:33110	IGHM	3507	HP:0000286	Epicanthus
ORPHANET:33110	IGHM	3507	HP:0001874	Abnormality of neutrophils
ORPHANET:33110	IGHM	3507	HP:0000316	Hypertelorism
ORPHANET:33110	IGHM	3507	HP:0100658	Cellulitis
ORPHANET:33110	IGHM	3507	HP:0001369	Arthritis
ORPHANET:33110	IGHM	3507	HP:0008572	External ear malformation
ORPHANET:33110	IGHM	3507	HP:0002024	Malabsorption
ORPHANET:33110	IGHM	3507	HP:0200042	Skin ulcer
ORPHANET:33110	IGHM	3507	HP:0000988	Skin rash
ORPHANET:33110	IGHM	3507	HP:0002109	Abnormality of the bronchi
ORPHANET:33110	IGHM	3507	HP:0004370	Abnormality of temperature regulation
ORPHANET:33110	IGHM	3507	HP:0000246	Sinusitis
ORPHANET:33110	IGHM	3507	HP:0002014	Diarrhea
ORPHANET:33110	IGHM	3507	HP:0002205	Recurrent respiratory infections
ORPHANET:33110	IGHM	3507	HP:0200043	Verrucae
ORPHANET:33110	IGHM	3507	HP:0000388	Otitis media
ORPHANET:33110	IGHM	3507	HP:0004313	Decreased antibody level in blood
ORPHANET:33110	LRRC8A	56262	HP:0001287	Meningitis
ORPHANET:33110	LRRC8A	56262	HP:0001392	Abnormality of the liver
ORPHANET:33110	LRRC8A	56262	HP:0000174	Abnormality of the palate
ORPHANET:33110	LRRC8A	56262	HP:0001944	Dehydration
ORPHANET:33110	LRRC8A	56262	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:33110	LRRC8A	56262	HP:0002754	Osteomyelitis
ORPHANET:33110	LRRC8A	56262	HP:0100806	Sepsis
ORPHANET:33110	LRRC8A	56262	HP:0000286	Epicanthus
ORPHANET:33110	LRRC8A	56262	HP:0001874	Abnormality of neutrophils
ORPHANET:33110	LRRC8A	56262	HP:0000316	Hypertelorism
ORPHANET:33110	LRRC8A	56262	HP:0100658	Cellulitis
ORPHANET:33110	LRRC8A	56262	HP:0001369	Arthritis
ORPHANET:33110	LRRC8A	56262	HP:0008572	External ear malformation
ORPHANET:33110	LRRC8A	56262	HP:0002024	Malabsorption
ORPHANET:33110	LRRC8A	56262	HP:0200042	Skin ulcer
ORPHANET:33110	LRRC8A	56262	HP:0000988	Skin rash
ORPHANET:33110	LRRC8A	56262	HP:0002109	Abnormality of the bronchi
ORPHANET:33110	LRRC8A	56262	HP:0004370	Abnormality of temperature regulation
ORPHANET:33110	LRRC8A	56262	HP:0000246	Sinusitis
ORPHANET:33110	LRRC8A	56262	HP:0002014	Diarrhea
ORPHANET:33110	LRRC8A	56262	HP:0002205	Recurrent respiratory infections
ORPHANET:33110	LRRC8A	56262	HP:0200043	Verrucae
ORPHANET:33110	LRRC8A	56262	HP:0000388	Otitis media
ORPHANET:33110	LRRC8A	56262	HP:0004313	Decreased antibody level in blood
ORPHANET:33110	IGLL1	3543	HP:0001287	Meningitis
ORPHANET:33110	IGLL1	3543	HP:0001392	Abnormality of the liver
ORPHANET:33110	IGLL1	3543	HP:0000174	Abnormality of the palate
ORPHANET:33110	IGLL1	3543	HP:0001944	Dehydration
ORPHANET:33110	IGLL1	3543	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:33110	IGLL1	3543	HP:0002754	Osteomyelitis
ORPHANET:33110	IGLL1	3543	HP:0100806	Sepsis
ORPHANET:33110	IGLL1	3543	HP:0000286	Epicanthus
ORPHANET:33110	IGLL1	3543	HP:0001874	Abnormality of neutrophils
ORPHANET:33110	IGLL1	3543	HP:0000316	Hypertelorism
ORPHANET:33110	IGLL1	3543	HP:0100658	Cellulitis
ORPHANET:33110	IGLL1	3543	HP:0001369	Arthritis
ORPHANET:33110	IGLL1	3543	HP:0008572	External ear malformation
ORPHANET:33110	IGLL1	3543	HP:0002024	Malabsorption
ORPHANET:33110	IGLL1	3543	HP:0200042	Skin ulcer
ORPHANET:33110	IGLL1	3543	HP:0000988	Skin rash
ORPHANET:33110	IGLL1	3543	HP:0002109	Abnormality of the bronchi
ORPHANET:33110	IGLL1	3543	HP:0004370	Abnormality of temperature regulation
ORPHANET:33110	IGLL1	3543	HP:0000246	Sinusitis
ORPHANET:33110	IGLL1	3543	HP:0002014	Diarrhea
ORPHANET:33110	IGLL1	3543	HP:0002205	Recurrent respiratory infections
ORPHANET:33110	IGLL1	3543	HP:0200043	Verrucae
ORPHANET:33110	IGLL1	3543	HP:0000388	Otitis media
ORPHANET:33110	IGLL1	3543	HP:0004313	Decreased antibody level in blood
ORPHANET:33110	CD79A	973	HP:0001287	Meningitis
ORPHANET:33110	CD79A	973	HP:0001392	Abnormality of the liver
ORPHANET:33110	CD79A	973	HP:0000174	Abnormality of the palate
ORPHANET:33110	CD79A	973	HP:0001944	Dehydration
ORPHANET:33110	CD79A	973	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:33110	CD79A	973	HP:0002754	Osteomyelitis
ORPHANET:33110	CD79A	973	HP:0100806	Sepsis
ORPHANET:33110	CD79A	973	HP:0000286	Epicanthus
ORPHANET:33110	CD79A	973	HP:0001874	Abnormality of neutrophils
ORPHANET:33110	CD79A	973	HP:0000316	Hypertelorism
ORPHANET:33110	CD79A	973	HP:0100658	Cellulitis
ORPHANET:33110	CD79A	973	HP:0001369	Arthritis
ORPHANET:33110	CD79A	973	HP:0008572	External ear malformation
ORPHANET:33110	CD79A	973	HP:0002024	Malabsorption
ORPHANET:33110	CD79A	973	HP:0200042	Skin ulcer
ORPHANET:33110	CD79A	973	HP:0000988	Skin rash
ORPHANET:33110	CD79A	973	HP:0002109	Abnormality of the bronchi
ORPHANET:33110	CD79A	973	HP:0004370	Abnormality of temperature regulation
ORPHANET:33110	CD79A	973	HP:0000246	Sinusitis
ORPHANET:33110	CD79A	973	HP:0002014	Diarrhea
ORPHANET:33110	CD79A	973	HP:0002205	Recurrent respiratory infections
ORPHANET:33110	CD79A	973	HP:0200043	Verrucae
ORPHANET:33110	CD79A	973	HP:0000388	Otitis media
ORPHANET:33110	CD79A	973	HP:0004313	Decreased antibody level in blood
ORPHANET:33110	CD79B	974	HP:0001287	Meningitis
ORPHANET:33110	CD79B	974	HP:0001392	Abnormality of the liver
ORPHANET:33110	CD79B	974	HP:0000174	Abnormality of the palate
ORPHANET:33110	CD79B	974	HP:0001944	Dehydration
ORPHANET:33110	CD79B	974	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:33110	CD79B	974	HP:0002754	Osteomyelitis
ORPHANET:33110	CD79B	974	HP:0100806	Sepsis
ORPHANET:33110	CD79B	974	HP:0000286	Epicanthus
ORPHANET:33110	CD79B	974	HP:0001874	Abnormality of neutrophils
ORPHANET:33110	CD79B	974	HP:0000316	Hypertelorism
ORPHANET:33110	CD79B	974	HP:0100658	Cellulitis
ORPHANET:33110	CD79B	974	HP:0001369	Arthritis
ORPHANET:33110	CD79B	974	HP:0008572	External ear malformation
ORPHANET:33110	CD79B	974	HP:0002024	Malabsorption
ORPHANET:33110	CD79B	974	HP:0200042	Skin ulcer
ORPHANET:33110	CD79B	974	HP:0000988	Skin rash
ORPHANET:33110	CD79B	974	HP:0002109	Abnormality of the bronchi
ORPHANET:33110	CD79B	974	HP:0004370	Abnormality of temperature regulation
ORPHANET:33110	CD79B	974	HP:0000246	Sinusitis
ORPHANET:33110	CD79B	974	HP:0002014	Diarrhea
ORPHANET:33110	CD79B	974	HP:0002205	Recurrent respiratory infections
ORPHANET:33110	CD79B	974	HP:0200043	Verrucae
ORPHANET:33110	CD79B	974	HP:0000388	Otitis media
ORPHANET:33110	CD79B	974	HP:0004313	Decreased antibody level in blood
ORPHANET:33110	PIK3R1	5295	HP:0001287	Meningitis
ORPHANET:33110	PIK3R1	5295	HP:0001392	Abnormality of the liver
ORPHANET:33110	PIK3R1	5295	HP:0000174	Abnormality of the palate
ORPHANET:33110	PIK3R1	5295	HP:0001944	Dehydration
ORPHANET:33110	PIK3R1	5295	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:33110	PIK3R1	5295	HP:0002754	Osteomyelitis
ORPHANET:33110	PIK3R1	5295	HP:0100806	Sepsis
ORPHANET:33110	PIK3R1	5295	HP:0000286	Epicanthus
ORPHANET:33110	PIK3R1	5295	HP:0001874	Abnormality of neutrophils
ORPHANET:33110	PIK3R1	5295	HP:0000316	Hypertelorism
ORPHANET:33110	PIK3R1	5295	HP:0100658	Cellulitis
ORPHANET:33110	PIK3R1	5295	HP:0001369	Arthritis
ORPHANET:33110	PIK3R1	5295	HP:0008572	External ear malformation
ORPHANET:33110	PIK3R1	5295	HP:0002024	Malabsorption
ORPHANET:33110	PIK3R1	5295	HP:0200042	Skin ulcer
ORPHANET:33110	PIK3R1	5295	HP:0000988	Skin rash
ORPHANET:33110	PIK3R1	5295	HP:0002109	Abnormality of the bronchi
ORPHANET:33110	PIK3R1	5295	HP:0004370	Abnormality of temperature regulation
ORPHANET:33110	PIK3R1	5295	HP:0000246	Sinusitis
ORPHANET:33110	PIK3R1	5295	HP:0002014	Diarrhea
ORPHANET:33110	PIK3R1	5295	HP:0002205	Recurrent respiratory infections
ORPHANET:33110	PIK3R1	5295	HP:0200043	Verrucae
ORPHANET:33110	PIK3R1	5295	HP:0000388	Otitis media
ORPHANET:33110	PIK3R1	5295	HP:0004313	Decreased antibody level in blood
ORPHANET:568	BCOR	54880	HP:0000518	Cataract
ORPHANET:568	BCOR	54880	HP:0000639	Nystagmus
ORPHANET:568	BCOR	54880	HP:0000365	Hearing impairment
ORPHANET:568	BCOR	54880	HP:0006101	Finger syndactyly
ORPHANET:568	BCOR	54880	HP:0002167	Neurological speech impairment
ORPHANET:568	BCOR	54880	HP:0000482	Microcornea
ORPHANET:568	BCOR	54880	HP:0008572	External ear malformation
ORPHANET:568	BCOR	54880	HP:0000069	Abnormality of the ureter
ORPHANET:568	BCOR	54880	HP:0006482	Abnormality of dental morphology
ORPHANET:568	BCOR	54880	HP:0001250	Seizures
ORPHANET:568	BCOR	54880	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:568	BCOR	54880	HP:0008050	Abnormality of the palpebral fissures
ORPHANET:568	BCOR	54880	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:568	BCOR	54880	HP:0100490	Camptodactyly of finger
ORPHANET:568	BCOR	54880	HP:0002808	Kyphosis
ORPHANET:568	BCOR	54880	HP:0004322	Short stature
ORPHANET:568	BCOR	54880	HP:0003307	Hyperlordosis
ORPHANET:568	BCOR	54880	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:568	BCOR	54880	HP:0000684	Delayed eruption of teeth
ORPHANET:568	BCOR	54880	HP:0000889	Abnormality of the clavicle
ORPHANET:568	BCOR	54880	HP:0100716	Self-injurious behavior
ORPHANET:568	BCOR	54880	HP:0000501	Glaucoma
ORPHANET:568	BCOR	54880	HP:0000465	Webbed neck
ORPHANET:568	BCOR	54880	HP:0000252	Microcephaly
ORPHANET:568	BCOR	54880	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:568	BCOR	54880	HP:0000588	Optic nerve coloboma
ORPHANET:568	BCOR	54880	HP:0100543	Cognitive impairment
ORPHANET:568	BCOR	54880	HP:0000028	Cryptorchidism
ORPHANET:568	BCOR	54880	HP:0000202	Oral cleft
ORPHANET:568	BCOR	54880	HP:0000567	Chorioretinal coloboma
ORPHANET:568	BCOR	54880	HP:0001177	Preaxial hand polydactyly
ORPHANET:568	BCOR	54880	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:568	BCOR	54880	HP:0000612	Iris coloboma
ORPHANET:568	BCOR	54880	HP:0003043	Abnormality of the shoulder
ORPHANET:568	BCOR	54880	HP:0100627	Displacement of the external urethral meatus
ORPHANET:568	BCOR	54880	HP:0000384	Preauricular skin tag
ORPHANET:568	BCOR	54880	HP:0002650	Scoliosis
ORPHANET:568	BCOR	54880	HP:0000505	Visual impairment
ORPHANET:568	NAA10	8260	HP:0000518	Cataract
ORPHANET:568	NAA10	8260	HP:0000639	Nystagmus
ORPHANET:568	NAA10	8260	HP:0000365	Hearing impairment
ORPHANET:568	NAA10	8260	HP:0006101	Finger syndactyly
ORPHANET:568	NAA10	8260	HP:0002167	Neurological speech impairment
ORPHANET:568	NAA10	8260	HP:0000482	Microcornea
ORPHANET:568	NAA10	8260	HP:0008572	External ear malformation
ORPHANET:568	NAA10	8260	HP:0000069	Abnormality of the ureter
ORPHANET:568	NAA10	8260	HP:0006482	Abnormality of dental morphology
ORPHANET:568	NAA10	8260	HP:0001250	Seizures
ORPHANET:568	NAA10	8260	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:568	NAA10	8260	HP:0008050	Abnormality of the palpebral fissures
ORPHANET:568	NAA10	8260	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:568	NAA10	8260	HP:0100490	Camptodactyly of finger
ORPHANET:568	NAA10	8260	HP:0002808	Kyphosis
ORPHANET:568	NAA10	8260	HP:0004322	Short stature
ORPHANET:568	NAA10	8260	HP:0003307	Hyperlordosis
ORPHANET:568	NAA10	8260	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:568	NAA10	8260	HP:0000684	Delayed eruption of teeth
ORPHANET:568	NAA10	8260	HP:0000889	Abnormality of the clavicle
ORPHANET:568	NAA10	8260	HP:0100716	Self-injurious behavior
ORPHANET:568	NAA10	8260	HP:0000501	Glaucoma
ORPHANET:568	NAA10	8260	HP:0000465	Webbed neck
ORPHANET:568	NAA10	8260	HP:0000252	Microcephaly
ORPHANET:568	NAA10	8260	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:568	NAA10	8260	HP:0000588	Optic nerve coloboma
ORPHANET:568	NAA10	8260	HP:0100543	Cognitive impairment
ORPHANET:568	NAA10	8260	HP:0000028	Cryptorchidism
ORPHANET:568	NAA10	8260	HP:0000202	Oral cleft
ORPHANET:568	NAA10	8260	HP:0000567	Chorioretinal coloboma
ORPHANET:568	NAA10	8260	HP:0001177	Preaxial hand polydactyly
ORPHANET:568	NAA10	8260	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:568	NAA10	8260	HP:0000612	Iris coloboma
ORPHANET:568	NAA10	8260	HP:0003043	Abnormality of the shoulder
ORPHANET:568	NAA10	8260	HP:0100627	Displacement of the external urethral meatus
ORPHANET:568	NAA10	8260	HP:0000384	Preauricular skin tag
ORPHANET:568	NAA10	8260	HP:0002650	Scoliosis
ORPHANET:568	NAA10	8260	HP:0000505	Visual impairment
OMIM:254110	TRIM32	22954	HP:0003707	Calf muscle pseudohypertrophy
OMIM:254110	TRIM32	22954	HP:0008988	Pelvic girdle muscle atrophy
OMIM:254110	TRIM32	22954	HP:0003547	Shoulder girdle muscle weakness
OMIM:254110	TRIM32	22954	HP:0000298	Mask-like facies
OMIM:254110	TRIM32	22954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:254110	TRIM32	22954	HP:0010628	Facial palsy
OMIM:254110	TRIM32	22954	HP:0003391	Gowers sign
OMIM:254110	TRIM32	22954	HP:0003457	EMG abnormality
OMIM:254110	TRIM32	22954	HP:0003812	Phenotypic variability
OMIM:254110	TRIM32	22954	HP:0001284	Areflexia
OMIM:254110	TRIM32	22954	HP:0003198	Myopathy
OMIM:254110	TRIM32	22954	HP:0002515	Waddling gait
OMIM:254110	TRIM32	22954	HP:0003560	Muscular dystrophy
OMIM:254110	TRIM32	22954	HP:0000007	Autosomal recessive inheritance
OMIM:254110	TRIM32	22954	HP:0003749	Pelvic girdle muscle weakness
OMIM:254110	TRIM32	22954	HP:0001265	Hyporeflexia
OMIM:254110	TRIM32	22954	HP:0000098	Tall stature
OMIM:254110	TRIM32	22954	HP:0001288	Gait disturbance
OMIM:254110	TRIM32	22954	HP:0003458	EMG: myopathic abnormalities
OMIM:254110	TRIM32	22954	HP:0003677	Slow progression
OMIM:254110	TRIM32	22954	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:254110	TRIM32	22954	HP:0003724	Shoulder girdle muscle atrophy
OMIM:173600	FLCN	201163	HP:0000006	Autosomal dominant inheritance
OMIM:173600	FLCN	201163	HP:0003829	Incomplete penetrance
OMIM:611093	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:611093	METTL23	124512	HP:0001249	Intellectual disability
OMIM:611093	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:611093	CRADD	8738	HP:0001249	Intellectual disability
OMIM:611093	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:611093	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:611093	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:611093	FMN2	56776	HP:0001249	Intellectual disability
OMIM:611093	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:611093	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:611093	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:611093	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:611093	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:611093	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:611093	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:611093	LINS1	55180	HP:0001249	Intellectual disability
OMIM:611093	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:611093	NDST1	3340	HP:0001249	Intellectual disability
OMIM:611093	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:611093	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:611093	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:611093	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:611093	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:611093	CRBN	51185	HP:0001249	Intellectual disability
OMIM:611093	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:611093	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:611093	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:611093	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:611093	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:611093	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:611093	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:611093	TECR	9524	HP:0001249	Intellectual disability
OMIM:611093	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:611093	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:611093	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:611093	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:611093	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:611093	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:611093	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:611093	EDC3	80153	HP:0001249	Intellectual disability
OMIM:611093	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:611093	MED13L	23389	HP:0001249	Intellectual disability
OMIM:611093	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:611093	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:611093	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:611093	MED23	9439	HP:0001249	Intellectual disability
ORPHANET:2636	RNU4ATAC	100151683	HP:0000520	Proptosis
ORPHANET:2636	RNU4ATAC	100151683	HP:0002093	Respiratory insufficiency
ORPHANET:2636	RNU4ATAC	100151683	HP:0011362	Abnormal hair quantity
ORPHANET:2636	RNU4ATAC	100151683	HP:0000340	Sloping forehead
ORPHANET:2636	RNU4ATAC	100151683	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:2636	RNU4ATAC	100151683	HP:0002823	Abnormality of the femur
ORPHANET:2636	RNU4ATAC	100151683	HP:0100530	Abnormality of calcium-phosphate metabolism
ORPHANET:2636	RNU4ATAC	100151683	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:2636	RNU4ATAC	100151683	HP:0002750	Delayed skeletal maturation
ORPHANET:2636	RNU4ATAC	100151683	HP:0001276	Hypertonia
ORPHANET:2636	RNU4ATAC	100151683	HP:0000269	Prominent occiput
ORPHANET:2636	RNU4ATAC	100151683	HP:0000889	Abnormality of the clavicle
ORPHANET:2636	RNU4ATAC	100151683	HP:0000954	Single transverse palmar crease
ORPHANET:2636	RNU4ATAC	100151683	HP:0001176	Large hands
ORPHANET:2636	RNU4ATAC	100151683	HP:0002983	Micromelia
ORPHANET:2636	RNU4ATAC	100151683	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:2636	RNU4ATAC	100151683	HP:0000944	Abnormality of the metaphyses
ORPHANET:2636	RNU4ATAC	100151683	HP:0000494	Downslanted palpebral fissures
ORPHANET:2636	RNU4ATAC	100151683	HP:0000474	Thickened nuchal skin fold
ORPHANET:2636	RNU4ATAC	100151683	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2636	RNU4ATAC	100151683	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2636	RNU4ATAC	100151683	HP:0004322	Short stature
ORPHANET:2636	RNU4ATAC	100151683	HP:0005105	Abnormal nasal morphology
ORPHANET:2636	RNU4ATAC	100151683	HP:0100543	Cognitive impairment
ORPHANET:2636	RNU4ATAC	100151683	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:2636	RNU4ATAC	100151683	HP:0100569	Abnormal vertebral ossification
ORPHANET:2636	RNU4ATAC	100151683	HP:0000444	Convex nasal ridge
ORPHANET:2636	RNU4ATAC	100151683	HP:0001622	Premature birth
ORPHANET:2636	RNU4ATAC	100151683	HP:0004349	Reduced bone mineral density
ORPHANET:2636	RNU4ATAC	100151683	HP:0000028	Cryptorchidism
ORPHANET:2636	RNU4ATAC	100151683	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:2636	RNU4ATAC	100151683	HP:0009832	Abnormality of the distal phalanx of finger
ORPHANET:2636	RNU4ATAC	100151683	HP:0000175	Cleft palate
ORPHANET:2636	RNU4ATAC	100151683	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:2636	RNU4ATAC	100151683	HP:0000470	Short neck
ORPHANET:2636	RNU4ATAC	100151683	HP:0000499	Abnormality of the eyelashes
ORPHANET:2636	RNU4ATAC	100151683	HP:0001511	Intrauterine growth retardation
ORPHANET:2636	RNU4ATAC	100151683	HP:0001250	Seizures
ORPHANET:2636	RNU4ATAC	100151683	HP:0000179	Thick lower lip vermilion
ORPHANET:2636	RNU4ATAC	100151683	HP:0000268	Dolichocephaly
ORPHANET:2636	RNU4ATAC	100151683	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:2636	RNU4ATAC	100151683	HP:0001156	Brachydactyly syndrome
ORPHANET:2636	RNU4ATAC	100151683	HP:0000252	Microcephaly
ORPHANET:2636	RNU4ATAC	100151683	HP:0000501	Glaucoma
ORPHANET:2636	RNU4ATAC	100151683	HP:0000347	Micrognathia
OMIM:227810	SLC2A2	6514	HP:0000007	Autosomal recessive inheritance
OMIM:227810	SLC2A2	6514	HP:0002024	Malabsorption
OMIM:227810	SLC2A2	6514	HP:0004915	Impairment of galactose metabolism
OMIM:227810	SLC2A2	6514	HP:0001002	Decreased subcutaneous fat
OMIM:227810	SLC2A2	6514	HP:0002148	Hypophosphatemia
OMIM:227810	SLC2A2	6514	HP:0003270	Abdominal distention
OMIM:227810	SLC2A2	6514	HP:0001263	Global developmental delay
OMIM:227810	SLC2A2	6514	HP:0001508	Failure to thrive
OMIM:613789	C5	727	HP:0004434	C8 deficiency
OMIM:613789	C5	727	HP:0005430	Recurrent Neisserial infections
OMIM:613789	C5	727	HP:0000007	Autosomal recessive inheritance
OMIM:613789	C5	727	HP:0001287	Meningitis
OMIM:613789	C6	729	HP:0004434	C8 deficiency
OMIM:613789	C6	729	HP:0005430	Recurrent Neisserial infections
OMIM:613789	C6	729	HP:0000007	Autosomal recessive inheritance
OMIM:613789	C6	729	HP:0001287	Meningitis
OMIM:613789	C7	730	HP:0004434	C8 deficiency
OMIM:613789	C7	730	HP:0005430	Recurrent Neisserial infections
OMIM:613789	C7	730	HP:0000007	Autosomal recessive inheritance
OMIM:613789	C7	730	HP:0001287	Meningitis
OMIM:613789	C8A	731	HP:0004434	C8 deficiency
OMIM:613789	C8A	731	HP:0005430	Recurrent Neisserial infections
OMIM:613789	C8A	731	HP:0000007	Autosomal recessive inheritance
OMIM:613789	C8A	731	HP:0001287	Meningitis
OMIM:613789	C8B	732	HP:0004434	C8 deficiency
OMIM:613789	C8B	732	HP:0005430	Recurrent Neisserial infections
OMIM:613789	C8B	732	HP:0000007	Autosomal recessive inheritance
OMIM:613789	C8B	732	HP:0001287	Meningitis
OMIM:613789	C8G	733	HP:0004434	C8 deficiency
OMIM:613789	C8G	733	HP:0005430	Recurrent Neisserial infections
OMIM:613789	C8G	733	HP:0000007	Autosomal recessive inheritance
OMIM:613789	C8G	733	HP:0001287	Meningitis
OMIM:613789	C9	735	HP:0004434	C8 deficiency
OMIM:613789	C9	735	HP:0005430	Recurrent Neisserial infections
OMIM:613789	C9	735	HP:0000007	Autosomal recessive inheritance
OMIM:613789	C9	735	HP:0001287	Meningitis
OMIM:616410	TRPC3	7222	HP:0002317	Unsteady gait
OMIM:616410	TRPC3	7222	HP:0001272	Cerebellar atrophy
OMIM:156580	DPP6	1804	HP:0000411	Protruding ear
OMIM:156580	DPP6	1804	HP:0000252	Microcephaly
OMIM:156580	DPP6	1804	HP:0000582	Upslanted palpebral fissure
OMIM:156580	DPP6	1804	HP:0000601	Hypotelorism
OMIM:156580	DPP6	1804	HP:0004322	Short stature
OMIM:156580	DPP6	1804	HP:0000006	Autosomal dominant inheritance
OMIM:156580	DPP6	1804	HP:0000340	Sloping forehead
OMIM:156580	DPP6	1804	HP:0011304	Broad thumb
OMIM:156580	DPP6	1804	HP:0010055	Broad hallux
OMIM:601718	RLBP1	6017	HP:0000512	Abnormal electroretinogram
OMIM:601718	RLBP1	6017	HP:0000505	Visual impairment
OMIM:601718	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:601718	RLBP1	6017	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:601718	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:601718	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:601718	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:601718	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	SPATA7	55812	HP:0000512	Abnormal electroretinogram
OMIM:601718	SPATA7	55812	HP:0000505	Visual impairment
OMIM:601718	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:601718	SPATA7	55812	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:601718	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:601718	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:601718	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:601718	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	ARL6	84100	HP:0000512	Abnormal electroretinogram
OMIM:601718	ARL6	84100	HP:0000505	Visual impairment
OMIM:601718	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:601718	ARL6	84100	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:601718	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:601718	ARL6	84100	HP:0000662	Nyctalopia
OMIM:601718	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:601718	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	CERKL	375298	HP:0000512	Abnormal electroretinogram
OMIM:601718	CERKL	375298	HP:0000505	Visual impairment
OMIM:601718	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:601718	CERKL	375298	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:601718	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:601718	CERKL	375298	HP:0000662	Nyctalopia
OMIM:601718	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:601718	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	PRPF31	26121	HP:0000512	Abnormal electroretinogram
OMIM:601718	PRPF31	26121	HP:0000505	Visual impairment
OMIM:601718	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:601718	PRPF31	26121	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:601718	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:601718	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:601718	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:601718	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	TTC8	123016	HP:0000512	Abnormal electroretinogram
OMIM:601718	TTC8	123016	HP:0000505	Visual impairment
OMIM:601718	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:601718	TTC8	123016	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:601718	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:601718	TTC8	123016	HP:0000662	Nyctalopia
OMIM:601718	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:601718	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	PROM1	8842	HP:0000512	Abnormal electroretinogram
OMIM:601718	PROM1	8842	HP:0000505	Visual impairment
OMIM:601718	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:601718	PROM1	8842	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:601718	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:601718	PROM1	8842	HP:0000662	Nyctalopia
OMIM:601718	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:601718	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	LRAT	9227	HP:0000512	Abnormal electroretinogram
OMIM:601718	LRAT	9227	HP:0000505	Visual impairment
OMIM:601718	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:601718	LRAT	9227	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:601718	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:601718	LRAT	9227	HP:0000662	Nyctalopia
OMIM:601718	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:601718	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	IFT140	9742	HP:0000512	Abnormal electroretinogram
OMIM:601718	IFT140	9742	HP:0000505	Visual impairment
OMIM:601718	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:601718	IFT140	9742	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:601718	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:601718	IFT140	9742	HP:0000662	Nyctalopia
OMIM:601718	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:601718	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:601718	BEST1	7439	HP:0000505	Visual impairment
OMIM:601718	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:601718	BEST1	7439	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:601718	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:601718	BEST1	7439	HP:0000662	Nyctalopia
OMIM:601718	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:601718	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	NEK2	4751	HP:0000512	Abnormal electroretinogram
OMIM:601718	NEK2	4751	HP:0000505	Visual impairment
OMIM:601718	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:601718	NEK2	4751	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:601718	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:601718	NEK2	4751	HP:0000662	Nyctalopia
OMIM:601718	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:601718	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	ARL2BP	23568	HP:0000512	Abnormal electroretinogram
OMIM:601718	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:601718	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:601718	ARL2BP	23568	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:601718	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:601718	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:601718	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:601718	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	NR2E3	10002	HP:0000512	Abnormal electroretinogram
OMIM:601718	NR2E3	10002	HP:0000505	Visual impairment
OMIM:601718	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:601718	NR2E3	10002	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:601718	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:601718	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:601718	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:601718	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	EYS	346007	HP:0000512	Abnormal electroretinogram
OMIM:601718	EYS	346007	HP:0000505	Visual impairment
OMIM:601718	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:601718	EYS	346007	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:601718	EYS	346007	HP:0000543	Optic disc pallor
OMIM:601718	EYS	346007	HP:0000662	Nyctalopia
OMIM:601718	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:601718	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	MAK	4117	HP:0000512	Abnormal electroretinogram
OMIM:601718	MAK	4117	HP:0000505	Visual impairment
OMIM:601718	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:601718	MAK	4117	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:601718	MAK	4117	HP:0000543	Optic disc pallor
OMIM:601718	MAK	4117	HP:0000662	Nyctalopia
OMIM:601718	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:601718	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	SAG	6295	HP:0000512	Abnormal electroretinogram
OMIM:601718	SAG	6295	HP:0000505	Visual impairment
OMIM:601718	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:601718	SAG	6295	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:601718	SAG	6295	HP:0000543	Optic disc pallor
OMIM:601718	SAG	6295	HP:0000662	Nyctalopia
OMIM:601718	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:601718	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	ABCA4	24	HP:0000512	Abnormal electroretinogram
OMIM:601718	ABCA4	24	HP:0000505	Visual impairment
OMIM:601718	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:601718	ABCA4	24	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:601718	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:601718	ABCA4	24	HP:0000662	Nyctalopia
OMIM:601718	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:601718	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	PDE6A	5145	HP:0000512	Abnormal electroretinogram
OMIM:601718	PDE6A	5145	HP:0000505	Visual impairment
OMIM:601718	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:601718	PDE6A	5145	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:601718	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:601718	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:601718	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:601718	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	PDE6G	5148	HP:0000512	Abnormal electroretinogram
OMIM:601718	PDE6G	5148	HP:0000505	Visual impairment
OMIM:601718	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:601718	PDE6G	5148	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:601718	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:601718	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:601718	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:601718	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
OMIM:601718	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:601718	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:601718	IMPDH1	3614	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:601718	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:601718	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:601718	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:601718	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	OFD1	8481	HP:0000512	Abnormal electroretinogram
OMIM:601718	OFD1	8481	HP:0000505	Visual impairment
OMIM:601718	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:601718	OFD1	8481	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:601718	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:601718	OFD1	8481	HP:0000662	Nyctalopia
OMIM:601718	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:601718	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	GUCA1B	2979	HP:0000512	Abnormal electroretinogram
OMIM:601718	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:601718	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:601718	GUCA1B	2979	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:601718	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:601718	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:601718	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:601718	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	NRL	4901	HP:0000512	Abnormal electroretinogram
OMIM:601718	NRL	4901	HP:0000505	Visual impairment
OMIM:601718	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:601718	NRL	4901	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:601718	NRL	4901	HP:0000543	Optic disc pallor
OMIM:601718	NRL	4901	HP:0000662	Nyctalopia
OMIM:601718	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:601718	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	PDE6B	5158	HP:0000512	Abnormal electroretinogram
OMIM:601718	PDE6B	5158	HP:0000505	Visual impairment
OMIM:601718	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:601718	PDE6B	5158	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:601718	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:601718	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:601718	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:601718	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	KLHL7	55975	HP:0000512	Abnormal electroretinogram
OMIM:601718	KLHL7	55975	HP:0000505	Visual impairment
OMIM:601718	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:601718	KLHL7	55975	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:601718	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:601718	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:601718	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:601718	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	PRPF4	9128	HP:0000512	Abnormal electroretinogram
OMIM:601718	PRPF4	9128	HP:0000505	Visual impairment
OMIM:601718	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:601718	PRPF4	9128	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:601718	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:601718	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:601718	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:601718	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	PRPF3	9129	HP:0000512	Abnormal electroretinogram
OMIM:601718	PRPF3	9129	HP:0000505	Visual impairment
OMIM:601718	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:601718	PRPF3	9129	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:601718	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:601718	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:601718	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:601718	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	FAM161A	84140	HP:0000512	Abnormal electroretinogram
OMIM:601718	FAM161A	84140	HP:0000505	Visual impairment
OMIM:601718	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:601718	FAM161A	84140	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:601718	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:601718	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:601718	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:601718	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	IFT172	26160	HP:0000512	Abnormal electroretinogram
OMIM:601718	IFT172	26160	HP:0000505	Visual impairment
OMIM:601718	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:601718	IFT172	26160	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:601718	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:601718	IFT172	26160	HP:0000662	Nyctalopia
OMIM:601718	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:601718	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	KIZ	55857	HP:0000512	Abnormal electroretinogram
OMIM:601718	KIZ	55857	HP:0000505	Visual impairment
OMIM:601718	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:601718	KIZ	55857	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:601718	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:601718	KIZ	55857	HP:0000662	Nyctalopia
OMIM:601718	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:601718	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	CDHR1	92211	HP:0000512	Abnormal electroretinogram
OMIM:601718	CDHR1	92211	HP:0000505	Visual impairment
OMIM:601718	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:601718	CDHR1	92211	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:601718	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:601718	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:601718	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:601718	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	ZNF408	79797	HP:0000512	Abnormal electroretinogram
OMIM:601718	ZNF408	79797	HP:0000505	Visual impairment
OMIM:601718	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:601718	ZNF408	79797	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:601718	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:601718	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:601718	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:601718	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	RBP3	5949	HP:0000512	Abnormal electroretinogram
OMIM:601718	RBP3	5949	HP:0000505	Visual impairment
OMIM:601718	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:601718	RBP3	5949	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:601718	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:601718	RBP3	5949	HP:0000662	Nyctalopia
OMIM:601718	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:601718	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	HGSNAT	138050	HP:0000512	Abnormal electroretinogram
OMIM:601718	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:601718	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:601718	HGSNAT	138050	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:601718	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:601718	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:601718	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:601718	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	FSCN2	25794	HP:0000512	Abnormal electroretinogram
OMIM:601718	FSCN2	25794	HP:0000505	Visual impairment
OMIM:601718	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:601718	FSCN2	25794	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:601718	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:601718	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:601718	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:601718	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	PRCD	768206	HP:0000512	Abnormal electroretinogram
OMIM:601718	PRCD	768206	HP:0000505	Visual impairment
OMIM:601718	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:601718	PRCD	768206	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:601718	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:601718	PRCD	768206	HP:0000662	Nyctalopia
OMIM:601718	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:601718	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	BBS2	583	HP:0000512	Abnormal electroretinogram
OMIM:601718	BBS2	583	HP:0000505	Visual impairment
OMIM:601718	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:601718	BBS2	583	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:601718	BBS2	583	HP:0000543	Optic disc pallor
OMIM:601718	BBS2	583	HP:0000662	Nyctalopia
OMIM:601718	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:601718	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	RDH12	145226	HP:0000512	Abnormal electroretinogram
OMIM:601718	RDH12	145226	HP:0000505	Visual impairment
OMIM:601718	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:601718	RDH12	145226	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:601718	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:601718	RDH12	145226	HP:0000662	Nyctalopia
OMIM:601718	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:601718	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	PRPH2	5961	HP:0000512	Abnormal electroretinogram
OMIM:601718	PRPH2	5961	HP:0000505	Visual impairment
OMIM:601718	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:601718	PRPH2	5961	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:601718	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:601718	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:601718	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:601718	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	DHDDS	79947	HP:0000512	Abnormal electroretinogram
OMIM:601718	DHDDS	79947	HP:0000505	Visual impairment
OMIM:601718	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:601718	DHDDS	79947	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:601718	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:601718	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:601718	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:601718	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	ROM1	6094	HP:0000512	Abnormal electroretinogram
OMIM:601718	ROM1	6094	HP:0000505	Visual impairment
OMIM:601718	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:601718	ROM1	6094	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:601718	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:601718	ROM1	6094	HP:0000662	Nyctalopia
OMIM:601718	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:601718	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	C2ORF71	388939	HP:0000512	Abnormal electroretinogram
OMIM:601718	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:601718	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:601718	C2ORF71	388939	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:601718	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:601718	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:601718	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:601718	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	RP9	6100	HP:0000512	Abnormal electroretinogram
OMIM:601718	RP9	6100	HP:0000505	Visual impairment
OMIM:601718	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:601718	RP9	6100	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:601718	RP9	6100	HP:0000543	Optic disc pallor
OMIM:601718	RP9	6100	HP:0000662	Nyctalopia
OMIM:601718	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:601718	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	PRPF6	24148	HP:0000512	Abnormal electroretinogram
OMIM:601718	PRPF6	24148	HP:0000505	Visual impairment
OMIM:601718	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:601718	PRPF6	24148	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:601718	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:601718	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:601718	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:601718	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	RP1	6101	HP:0000512	Abnormal electroretinogram
OMIM:601718	RP1	6101	HP:0000505	Visual impairment
OMIM:601718	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:601718	RP1	6101	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:601718	RP1	6101	HP:0000543	Optic disc pallor
OMIM:601718	RP1	6101	HP:0000662	Nyctalopia
OMIM:601718	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:601718	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	RP2	6102	HP:0000512	Abnormal electroretinogram
OMIM:601718	RP2	6102	HP:0000505	Visual impairment
OMIM:601718	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:601718	RP2	6102	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:601718	RP2	6102	HP:0000543	Optic disc pallor
OMIM:601718	RP2	6102	HP:0000662	Nyctalopia
OMIM:601718	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:601718	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	RPGR	6103	HP:0000512	Abnormal electroretinogram
OMIM:601718	RPGR	6103	HP:0000505	Visual impairment
OMIM:601718	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:601718	RPGR	6103	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:601718	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:601718	RPGR	6103	HP:0000662	Nyctalopia
OMIM:601718	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:601718	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	SEMA4A	64218	HP:0000512	Abnormal electroretinogram
OMIM:601718	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:601718	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:601718	SEMA4A	64218	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:601718	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:601718	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:601718	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:601718	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	C8ORF37	157657	HP:0000512	Abnormal electroretinogram
OMIM:601718	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:601718	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:601718	C8ORF37	157657	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:601718	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:601718	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:601718	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:601718	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	IDH3B	3420	HP:0000512	Abnormal electroretinogram
OMIM:601718	IDH3B	3420	HP:0000505	Visual impairment
OMIM:601718	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:601718	IDH3B	3420	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:601718	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:601718	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:601718	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:601718	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	MERTK	10461	HP:0000512	Abnormal electroretinogram
OMIM:601718	MERTK	10461	HP:0000505	Visual impairment
OMIM:601718	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:601718	MERTK	10461	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:601718	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:601718	MERTK	10461	HP:0000662	Nyctalopia
OMIM:601718	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:601718	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	PRPF8	10594	HP:0000512	Abnormal electroretinogram
OMIM:601718	PRPF8	10594	HP:0000505	Visual impairment
OMIM:601718	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:601718	PRPF8	10594	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:601718	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:601718	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:601718	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:601718	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	TOPORS	10210	HP:0000512	Abnormal electroretinogram
OMIM:601718	TOPORS	10210	HP:0000505	Visual impairment
OMIM:601718	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:601718	TOPORS	10210	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:601718	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:601718	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:601718	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:601718	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	USH2A	7399	HP:0000512	Abnormal electroretinogram
OMIM:601718	USH2A	7399	HP:0000505	Visual impairment
OMIM:601718	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:601718	USH2A	7399	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:601718	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:601718	USH2A	7399	HP:0000662	Nyctalopia
OMIM:601718	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:601718	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	RPE65	6121	HP:0000512	Abnormal electroretinogram
OMIM:601718	RPE65	6121	HP:0000505	Visual impairment
OMIM:601718	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:601718	RPE65	6121	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:601718	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:601718	RPE65	6121	HP:0000662	Nyctalopia
OMIM:601718	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:601718	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	CLRN1	7401	HP:0000512	Abnormal electroretinogram
OMIM:601718	CLRN1	7401	HP:0000505	Visual impairment
OMIM:601718	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:601718	CLRN1	7401	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:601718	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:601718	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:601718	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:601718	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	CNGB1	1258	HP:0000512	Abnormal electroretinogram
OMIM:601718	CNGB1	1258	HP:0000505	Visual impairment
OMIM:601718	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:601718	CNGB1	1258	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:601718	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:601718	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:601718	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:601718	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	RGR	5995	HP:0000512	Abnormal electroretinogram
OMIM:601718	RGR	5995	HP:0000505	Visual impairment
OMIM:601718	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:601718	RGR	5995	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:601718	RGR	5995	HP:0000543	Optic disc pallor
OMIM:601718	RGR	5995	HP:0000662	Nyctalopia
OMIM:601718	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:601718	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	CNGA1	1259	HP:0000512	Abnormal electroretinogram
OMIM:601718	CNGA1	1259	HP:0000505	Visual impairment
OMIM:601718	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:601718	CNGA1	1259	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:601718	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:601718	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:601718	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:601718	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	TUB	7275	HP:0000512	Abnormal electroretinogram
OMIM:601718	TUB	7275	HP:0000505	Visual impairment
OMIM:601718	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:601718	TUB	7275	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:601718	TUB	7275	HP:0000543	Optic disc pallor
OMIM:601718	TUB	7275	HP:0000662	Nyctalopia
OMIM:601718	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:601718	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	SNRNP200	23020	HP:0000512	Abnormal electroretinogram
OMIM:601718	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:601718	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:601718	SNRNP200	23020	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:601718	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:601718	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:601718	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:601718	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	SLC7A14	57709	HP:0000512	Abnormal electroretinogram
OMIM:601718	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:601718	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:601718	SLC7A14	57709	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:601718	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:601718	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:601718	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:601718	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	TULP1	7287	HP:0000512	Abnormal electroretinogram
OMIM:601718	TULP1	7287	HP:0000505	Visual impairment
OMIM:601718	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:601718	TULP1	7287	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:601718	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:601718	TULP1	7287	HP:0000662	Nyctalopia
OMIM:601718	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:601718	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	RHO	6010	HP:0000512	Abnormal electroretinogram
OMIM:601718	RHO	6010	HP:0000505	Visual impairment
OMIM:601718	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:601718	RHO	6010	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:601718	RHO	6010	HP:0000543	Optic disc pallor
OMIM:601718	RHO	6010	HP:0000662	Nyctalopia
OMIM:601718	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:601718	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	CA4	762	HP:0000512	Abnormal electroretinogram
OMIM:601718	CA4	762	HP:0000505	Visual impairment
OMIM:601718	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:601718	CA4	762	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:601718	CA4	762	HP:0000543	Optic disc pallor
OMIM:601718	CA4	762	HP:0000662	Nyctalopia
OMIM:601718	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:601718	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	CRB1	23418	HP:0000512	Abnormal electroretinogram
OMIM:601718	CRB1	23418	HP:0000505	Visual impairment
OMIM:601718	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:601718	CRB1	23418	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:601718	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:601718	CRB1	23418	HP:0000662	Nyctalopia
OMIM:601718	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:601718	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	IMPG2	50939	HP:0000512	Abnormal electroretinogram
OMIM:601718	IMPG2	50939	HP:0000505	Visual impairment
OMIM:601718	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:601718	IMPG2	50939	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:601718	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:601718	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:601718	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:601718	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	ZNF513	130557	HP:0000512	Abnormal electroretinogram
OMIM:601718	ZNF513	130557	HP:0000505	Visual impairment
OMIM:601718	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:601718	ZNF513	130557	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:601718	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:601718	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:601718	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:601718	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:601718	CRX	1406	HP:0000512	Abnormal electroretinogram
OMIM:601718	CRX	1406	HP:0000505	Visual impairment
OMIM:601718	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:601718	CRX	1406	HP:0007722	Retinal pigment epithelial atrophy
OMIM:601718	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:601718	CRX	1406	HP:0000543	Optic disc pallor
OMIM:601718	CRX	1406	HP:0000662	Nyctalopia
OMIM:601718	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:601718	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:601718	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:615508	DSG1	1828	HP:0000007	Autosomal recessive inheritance
OMIM:615508	DSG1	1828	HP:0001581	Recurrent skin infections
OMIM:615508	DSG1	1828	HP:0001019	Erythroderma
OMIM:615508	DSG1	1828	HP:0001629	Ventricular septal defect
OMIM:615508	DSG1	1828	HP:0001510	Growth delay
OMIM:615508	DSG1	1828	HP:0002205	Recurrent respiratory infections
ORPHANET:475	CEP41	95681	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	CEP41	95681	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	CEP41	95681	HP:0000486	Strabismus
ORPHANET:475	CEP41	95681	HP:0002084	Encephalocele
ORPHANET:475	CEP41	95681	HP:0002553	Highly arched eyebrow
ORPHANET:475	CEP41	95681	HP:0000202	Oral cleft
ORPHANET:475	CEP41	95681	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	CEP41	95681	HP:0001252	Muscular hypotonia
ORPHANET:475	CEP41	95681	HP:0001288	Gait disturbance
ORPHANET:475	CEP41	95681	HP:0000463	Anteverted nares
ORPHANET:475	CEP41	95681	HP:0000426	Prominent nasal bridge
ORPHANET:475	CEP41	95681	HP:0000639	Nystagmus
ORPHANET:475	CEP41	95681	HP:0100543	Cognitive impairment
ORPHANET:475	CEP41	95681	HP:0000276	Long face
ORPHANET:475	CEP41	95681	HP:0002311	Incoordination
ORPHANET:475	CEP41	95681	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	CEP41	95681	HP:0002650	Scoliosis
ORPHANET:475	CEP41	95681	HP:0000508	Ptosis
ORPHANET:475	CEP41	95681	HP:0002251	Aganglionic megacolon
ORPHANET:475	CEP41	95681	HP:0001161	Hand polydactyly
ORPHANET:475	CEP41	95681	HP:0001250	Seizures
ORPHANET:475	CEP41	95681	HP:0000341	Narrow forehead
ORPHANET:475	CEP41	95681	HP:0000612	Iris coloboma
ORPHANET:475	CEP41	95681	HP:0001337	Tremor
ORPHANET:475	CEP41	95681	HP:0002104	Apnea
ORPHANET:475	CEP41	95681	HP:0001829	Foot polydactyly
ORPHANET:475	CEP41	95681	HP:0001696	Situs inversus totalis
ORPHANET:475	CEP41	95681	HP:0000238	Hydrocephalus
ORPHANET:475	CEP41	95681	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	CEP41	95681	HP:0000657	Oculomotor apraxia
ORPHANET:475	C5ORF42	65250	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	C5ORF42	65250	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	C5ORF42	65250	HP:0000486	Strabismus
ORPHANET:475	C5ORF42	65250	HP:0002084	Encephalocele
ORPHANET:475	C5ORF42	65250	HP:0002553	Highly arched eyebrow
ORPHANET:475	C5ORF42	65250	HP:0000202	Oral cleft
ORPHANET:475	C5ORF42	65250	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	C5ORF42	65250	HP:0001252	Muscular hypotonia
ORPHANET:475	C5ORF42	65250	HP:0001288	Gait disturbance
ORPHANET:475	C5ORF42	65250	HP:0000463	Anteverted nares
ORPHANET:475	C5ORF42	65250	HP:0000426	Prominent nasal bridge
ORPHANET:475	C5ORF42	65250	HP:0000639	Nystagmus
ORPHANET:475	C5ORF42	65250	HP:0100543	Cognitive impairment
ORPHANET:475	C5ORF42	65250	HP:0000276	Long face
ORPHANET:475	C5ORF42	65250	HP:0002311	Incoordination
ORPHANET:475	C5ORF42	65250	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	C5ORF42	65250	HP:0002650	Scoliosis
ORPHANET:475	C5ORF42	65250	HP:0000508	Ptosis
ORPHANET:475	C5ORF42	65250	HP:0002251	Aganglionic megacolon
ORPHANET:475	C5ORF42	65250	HP:0001161	Hand polydactyly
ORPHANET:475	C5ORF42	65250	HP:0001250	Seizures
ORPHANET:475	C5ORF42	65250	HP:0000341	Narrow forehead
ORPHANET:475	C5ORF42	65250	HP:0000612	Iris coloboma
ORPHANET:475	C5ORF42	65250	HP:0001337	Tremor
ORPHANET:475	C5ORF42	65250	HP:0002104	Apnea
ORPHANET:475	C5ORF42	65250	HP:0001829	Foot polydactyly
ORPHANET:475	C5ORF42	65250	HP:0001696	Situs inversus totalis
ORPHANET:475	C5ORF42	65250	HP:0000238	Hydrocephalus
ORPHANET:475	C5ORF42	65250	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	C5ORF42	65250	HP:0000657	Oculomotor apraxia
ORPHANET:475	B9D1	27077	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	B9D1	27077	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	B9D1	27077	HP:0000486	Strabismus
ORPHANET:475	B9D1	27077	HP:0002084	Encephalocele
ORPHANET:475	B9D1	27077	HP:0002553	Highly arched eyebrow
ORPHANET:475	B9D1	27077	HP:0000202	Oral cleft
ORPHANET:475	B9D1	27077	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	B9D1	27077	HP:0001252	Muscular hypotonia
ORPHANET:475	B9D1	27077	HP:0001288	Gait disturbance
ORPHANET:475	B9D1	27077	HP:0000463	Anteverted nares
ORPHANET:475	B9D1	27077	HP:0000426	Prominent nasal bridge
ORPHANET:475	B9D1	27077	HP:0000639	Nystagmus
ORPHANET:475	B9D1	27077	HP:0100543	Cognitive impairment
ORPHANET:475	B9D1	27077	HP:0000276	Long face
ORPHANET:475	B9D1	27077	HP:0002311	Incoordination
ORPHANET:475	B9D1	27077	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	B9D1	27077	HP:0002650	Scoliosis
ORPHANET:475	B9D1	27077	HP:0000508	Ptosis
ORPHANET:475	B9D1	27077	HP:0002251	Aganglionic megacolon
ORPHANET:475	B9D1	27077	HP:0001161	Hand polydactyly
ORPHANET:475	B9D1	27077	HP:0001250	Seizures
ORPHANET:475	B9D1	27077	HP:0000341	Narrow forehead
ORPHANET:475	B9D1	27077	HP:0000612	Iris coloboma
ORPHANET:475	B9D1	27077	HP:0001337	Tremor
ORPHANET:475	B9D1	27077	HP:0002104	Apnea
ORPHANET:475	B9D1	27077	HP:0001829	Foot polydactyly
ORPHANET:475	B9D1	27077	HP:0001696	Situs inversus totalis
ORPHANET:475	B9D1	27077	HP:0000238	Hydrocephalus
ORPHANET:475	B9D1	27077	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	B9D1	27077	HP:0000657	Oculomotor apraxia
ORPHANET:475	TMEM237	65062	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	TMEM237	65062	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	TMEM237	65062	HP:0000486	Strabismus
ORPHANET:475	TMEM237	65062	HP:0002084	Encephalocele
ORPHANET:475	TMEM237	65062	HP:0002553	Highly arched eyebrow
ORPHANET:475	TMEM237	65062	HP:0000202	Oral cleft
ORPHANET:475	TMEM237	65062	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	TMEM237	65062	HP:0001252	Muscular hypotonia
ORPHANET:475	TMEM237	65062	HP:0001288	Gait disturbance
ORPHANET:475	TMEM237	65062	HP:0000463	Anteverted nares
ORPHANET:475	TMEM237	65062	HP:0000426	Prominent nasal bridge
ORPHANET:475	TMEM237	65062	HP:0000639	Nystagmus
ORPHANET:475	TMEM237	65062	HP:0100543	Cognitive impairment
ORPHANET:475	TMEM237	65062	HP:0000276	Long face
ORPHANET:475	TMEM237	65062	HP:0002311	Incoordination
ORPHANET:475	TMEM237	65062	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	TMEM237	65062	HP:0002650	Scoliosis
ORPHANET:475	TMEM237	65062	HP:0000508	Ptosis
ORPHANET:475	TMEM237	65062	HP:0002251	Aganglionic megacolon
ORPHANET:475	TMEM237	65062	HP:0001161	Hand polydactyly
ORPHANET:475	TMEM237	65062	HP:0001250	Seizures
ORPHANET:475	TMEM237	65062	HP:0000341	Narrow forehead
ORPHANET:475	TMEM237	65062	HP:0000612	Iris coloboma
ORPHANET:475	TMEM237	65062	HP:0001337	Tremor
ORPHANET:475	TMEM237	65062	HP:0002104	Apnea
ORPHANET:475	TMEM237	65062	HP:0001829	Foot polydactyly
ORPHANET:475	TMEM237	65062	HP:0001696	Situs inversus totalis
ORPHANET:475	TMEM237	65062	HP:0000238	Hydrocephalus
ORPHANET:475	TMEM237	65062	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	TMEM237	65062	HP:0000657	Oculomotor apraxia
ORPHANET:475	CSPP1	79848	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	CSPP1	79848	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	CSPP1	79848	HP:0000486	Strabismus
ORPHANET:475	CSPP1	79848	HP:0002084	Encephalocele
ORPHANET:475	CSPP1	79848	HP:0002553	Highly arched eyebrow
ORPHANET:475	CSPP1	79848	HP:0000202	Oral cleft
ORPHANET:475	CSPP1	79848	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	CSPP1	79848	HP:0001252	Muscular hypotonia
ORPHANET:475	CSPP1	79848	HP:0001288	Gait disturbance
ORPHANET:475	CSPP1	79848	HP:0000463	Anteverted nares
ORPHANET:475	CSPP1	79848	HP:0000426	Prominent nasal bridge
ORPHANET:475	CSPP1	79848	HP:0000639	Nystagmus
ORPHANET:475	CSPP1	79848	HP:0100543	Cognitive impairment
ORPHANET:475	CSPP1	79848	HP:0000276	Long face
ORPHANET:475	CSPP1	79848	HP:0002311	Incoordination
ORPHANET:475	CSPP1	79848	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	CSPP1	79848	HP:0002650	Scoliosis
ORPHANET:475	CSPP1	79848	HP:0000508	Ptosis
ORPHANET:475	CSPP1	79848	HP:0002251	Aganglionic megacolon
ORPHANET:475	CSPP1	79848	HP:0001161	Hand polydactyly
ORPHANET:475	CSPP1	79848	HP:0001250	Seizures
ORPHANET:475	CSPP1	79848	HP:0000341	Narrow forehead
ORPHANET:475	CSPP1	79848	HP:0000612	Iris coloboma
ORPHANET:475	CSPP1	79848	HP:0001337	Tremor
ORPHANET:475	CSPP1	79848	HP:0002104	Apnea
ORPHANET:475	CSPP1	79848	HP:0001829	Foot polydactyly
ORPHANET:475	CSPP1	79848	HP:0001696	Situs inversus totalis
ORPHANET:475	CSPP1	79848	HP:0000238	Hydrocephalus
ORPHANET:475	CSPP1	79848	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	CSPP1	79848	HP:0000657	Oculomotor apraxia
ORPHANET:475	TMEM67	91147	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	TMEM67	91147	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	TMEM67	91147	HP:0000486	Strabismus
ORPHANET:475	TMEM67	91147	HP:0002084	Encephalocele
ORPHANET:475	TMEM67	91147	HP:0002553	Highly arched eyebrow
ORPHANET:475	TMEM67	91147	HP:0000202	Oral cleft
ORPHANET:475	TMEM67	91147	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	TMEM67	91147	HP:0001252	Muscular hypotonia
ORPHANET:475	TMEM67	91147	HP:0001288	Gait disturbance
ORPHANET:475	TMEM67	91147	HP:0000463	Anteverted nares
ORPHANET:475	TMEM67	91147	HP:0000426	Prominent nasal bridge
ORPHANET:475	TMEM67	91147	HP:0000639	Nystagmus
ORPHANET:475	TMEM67	91147	HP:0100543	Cognitive impairment
ORPHANET:475	TMEM67	91147	HP:0000276	Long face
ORPHANET:475	TMEM67	91147	HP:0002311	Incoordination
ORPHANET:475	TMEM67	91147	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	TMEM67	91147	HP:0002650	Scoliosis
ORPHANET:475	TMEM67	91147	HP:0000508	Ptosis
ORPHANET:475	TMEM67	91147	HP:0002251	Aganglionic megacolon
ORPHANET:475	TMEM67	91147	HP:0001161	Hand polydactyly
ORPHANET:475	TMEM67	91147	HP:0001250	Seizures
ORPHANET:475	TMEM67	91147	HP:0000341	Narrow forehead
ORPHANET:475	TMEM67	91147	HP:0000612	Iris coloboma
ORPHANET:475	TMEM67	91147	HP:0001337	Tremor
ORPHANET:475	TMEM67	91147	HP:0002104	Apnea
ORPHANET:475	TMEM67	91147	HP:0001829	Foot polydactyly
ORPHANET:475	TMEM67	91147	HP:0001696	Situs inversus totalis
ORPHANET:475	TMEM67	91147	HP:0000238	Hydrocephalus
ORPHANET:475	TMEM67	91147	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	TMEM67	91147	HP:0000657	Oculomotor apraxia
ORPHANET:475	INPP5E	56623	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	INPP5E	56623	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	INPP5E	56623	HP:0000486	Strabismus
ORPHANET:475	INPP5E	56623	HP:0002084	Encephalocele
ORPHANET:475	INPP5E	56623	HP:0002553	Highly arched eyebrow
ORPHANET:475	INPP5E	56623	HP:0000202	Oral cleft
ORPHANET:475	INPP5E	56623	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	INPP5E	56623	HP:0001252	Muscular hypotonia
ORPHANET:475	INPP5E	56623	HP:0001288	Gait disturbance
ORPHANET:475	INPP5E	56623	HP:0000463	Anteverted nares
ORPHANET:475	INPP5E	56623	HP:0000426	Prominent nasal bridge
ORPHANET:475	INPP5E	56623	HP:0000639	Nystagmus
ORPHANET:475	INPP5E	56623	HP:0100543	Cognitive impairment
ORPHANET:475	INPP5E	56623	HP:0000276	Long face
ORPHANET:475	INPP5E	56623	HP:0002311	Incoordination
ORPHANET:475	INPP5E	56623	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	INPP5E	56623	HP:0002650	Scoliosis
ORPHANET:475	INPP5E	56623	HP:0000508	Ptosis
ORPHANET:475	INPP5E	56623	HP:0002251	Aganglionic megacolon
ORPHANET:475	INPP5E	56623	HP:0001161	Hand polydactyly
ORPHANET:475	INPP5E	56623	HP:0001250	Seizures
ORPHANET:475	INPP5E	56623	HP:0000341	Narrow forehead
ORPHANET:475	INPP5E	56623	HP:0000612	Iris coloboma
ORPHANET:475	INPP5E	56623	HP:0001337	Tremor
ORPHANET:475	INPP5E	56623	HP:0002104	Apnea
ORPHANET:475	INPP5E	56623	HP:0001829	Foot polydactyly
ORPHANET:475	INPP5E	56623	HP:0001696	Situs inversus totalis
ORPHANET:475	INPP5E	56623	HP:0000238	Hydrocephalus
ORPHANET:475	INPP5E	56623	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	INPP5E	56623	HP:0000657	Oculomotor apraxia
ORPHANET:475	TCTN1	79600	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	TCTN1	79600	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	TCTN1	79600	HP:0000486	Strabismus
ORPHANET:475	TCTN1	79600	HP:0002084	Encephalocele
ORPHANET:475	TCTN1	79600	HP:0002553	Highly arched eyebrow
ORPHANET:475	TCTN1	79600	HP:0000202	Oral cleft
ORPHANET:475	TCTN1	79600	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	TCTN1	79600	HP:0001252	Muscular hypotonia
ORPHANET:475	TCTN1	79600	HP:0001288	Gait disturbance
ORPHANET:475	TCTN1	79600	HP:0000463	Anteverted nares
ORPHANET:475	TCTN1	79600	HP:0000426	Prominent nasal bridge
ORPHANET:475	TCTN1	79600	HP:0000639	Nystagmus
ORPHANET:475	TCTN1	79600	HP:0100543	Cognitive impairment
ORPHANET:475	TCTN1	79600	HP:0000276	Long face
ORPHANET:475	TCTN1	79600	HP:0002311	Incoordination
ORPHANET:475	TCTN1	79600	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	TCTN1	79600	HP:0002650	Scoliosis
ORPHANET:475	TCTN1	79600	HP:0000508	Ptosis
ORPHANET:475	TCTN1	79600	HP:0002251	Aganglionic megacolon
ORPHANET:475	TCTN1	79600	HP:0001161	Hand polydactyly
ORPHANET:475	TCTN1	79600	HP:0001250	Seizures
ORPHANET:475	TCTN1	79600	HP:0000341	Narrow forehead
ORPHANET:475	TCTN1	79600	HP:0000612	Iris coloboma
ORPHANET:475	TCTN1	79600	HP:0001337	Tremor
ORPHANET:475	TCTN1	79600	HP:0002104	Apnea
ORPHANET:475	TCTN1	79600	HP:0001829	Foot polydactyly
ORPHANET:475	TCTN1	79600	HP:0001696	Situs inversus totalis
ORPHANET:475	TCTN1	79600	HP:0000238	Hydrocephalus
ORPHANET:475	TCTN1	79600	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	TCTN1	79600	HP:0000657	Oculomotor apraxia
ORPHANET:475	AHI1	54806	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	AHI1	54806	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	AHI1	54806	HP:0000486	Strabismus
ORPHANET:475	AHI1	54806	HP:0002084	Encephalocele
ORPHANET:475	AHI1	54806	HP:0002553	Highly arched eyebrow
ORPHANET:475	AHI1	54806	HP:0000202	Oral cleft
ORPHANET:475	AHI1	54806	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	AHI1	54806	HP:0001252	Muscular hypotonia
ORPHANET:475	AHI1	54806	HP:0001288	Gait disturbance
ORPHANET:475	AHI1	54806	HP:0000463	Anteverted nares
ORPHANET:475	AHI1	54806	HP:0000426	Prominent nasal bridge
ORPHANET:475	AHI1	54806	HP:0000639	Nystagmus
ORPHANET:475	AHI1	54806	HP:0100543	Cognitive impairment
ORPHANET:475	AHI1	54806	HP:0000276	Long face
ORPHANET:475	AHI1	54806	HP:0002311	Incoordination
ORPHANET:475	AHI1	54806	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	AHI1	54806	HP:0002650	Scoliosis
ORPHANET:475	AHI1	54806	HP:0000508	Ptosis
ORPHANET:475	AHI1	54806	HP:0002251	Aganglionic megacolon
ORPHANET:475	AHI1	54806	HP:0001161	Hand polydactyly
ORPHANET:475	AHI1	54806	HP:0001250	Seizures
ORPHANET:475	AHI1	54806	HP:0000341	Narrow forehead
ORPHANET:475	AHI1	54806	HP:0000612	Iris coloboma
ORPHANET:475	AHI1	54806	HP:0001337	Tremor
ORPHANET:475	AHI1	54806	HP:0002104	Apnea
ORPHANET:475	AHI1	54806	HP:0001829	Foot polydactyly
ORPHANET:475	AHI1	54806	HP:0001696	Situs inversus totalis
ORPHANET:475	AHI1	54806	HP:0000238	Hydrocephalus
ORPHANET:475	AHI1	54806	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	AHI1	54806	HP:0000657	Oculomotor apraxia
ORPHANET:475	MKS1	54903	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	MKS1	54903	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	MKS1	54903	HP:0000486	Strabismus
ORPHANET:475	MKS1	54903	HP:0002084	Encephalocele
ORPHANET:475	MKS1	54903	HP:0002553	Highly arched eyebrow
ORPHANET:475	MKS1	54903	HP:0000202	Oral cleft
ORPHANET:475	MKS1	54903	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	MKS1	54903	HP:0001252	Muscular hypotonia
ORPHANET:475	MKS1	54903	HP:0001288	Gait disturbance
ORPHANET:475	MKS1	54903	HP:0000463	Anteverted nares
ORPHANET:475	MKS1	54903	HP:0000426	Prominent nasal bridge
ORPHANET:475	MKS1	54903	HP:0000639	Nystagmus
ORPHANET:475	MKS1	54903	HP:0100543	Cognitive impairment
ORPHANET:475	MKS1	54903	HP:0000276	Long face
ORPHANET:475	MKS1	54903	HP:0002311	Incoordination
ORPHANET:475	MKS1	54903	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	MKS1	54903	HP:0002650	Scoliosis
ORPHANET:475	MKS1	54903	HP:0000508	Ptosis
ORPHANET:475	MKS1	54903	HP:0002251	Aganglionic megacolon
ORPHANET:475	MKS1	54903	HP:0001161	Hand polydactyly
ORPHANET:475	MKS1	54903	HP:0001250	Seizures
ORPHANET:475	MKS1	54903	HP:0000341	Narrow forehead
ORPHANET:475	MKS1	54903	HP:0000612	Iris coloboma
ORPHANET:475	MKS1	54903	HP:0001337	Tremor
ORPHANET:475	MKS1	54903	HP:0002104	Apnea
ORPHANET:475	MKS1	54903	HP:0001829	Foot polydactyly
ORPHANET:475	MKS1	54903	HP:0001696	Situs inversus totalis
ORPHANET:475	MKS1	54903	HP:0000238	Hydrocephalus
ORPHANET:475	MKS1	54903	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	MKS1	54903	HP:0000657	Oculomotor apraxia
ORPHANET:475	TCTN2	79867	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	TCTN2	79867	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	TCTN2	79867	HP:0000486	Strabismus
ORPHANET:475	TCTN2	79867	HP:0002084	Encephalocele
ORPHANET:475	TCTN2	79867	HP:0002553	Highly arched eyebrow
ORPHANET:475	TCTN2	79867	HP:0000202	Oral cleft
ORPHANET:475	TCTN2	79867	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	TCTN2	79867	HP:0001252	Muscular hypotonia
ORPHANET:475	TCTN2	79867	HP:0001288	Gait disturbance
ORPHANET:475	TCTN2	79867	HP:0000463	Anteverted nares
ORPHANET:475	TCTN2	79867	HP:0000426	Prominent nasal bridge
ORPHANET:475	TCTN2	79867	HP:0000639	Nystagmus
ORPHANET:475	TCTN2	79867	HP:0100543	Cognitive impairment
ORPHANET:475	TCTN2	79867	HP:0000276	Long face
ORPHANET:475	TCTN2	79867	HP:0002311	Incoordination
ORPHANET:475	TCTN2	79867	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	TCTN2	79867	HP:0002650	Scoliosis
ORPHANET:475	TCTN2	79867	HP:0000508	Ptosis
ORPHANET:475	TCTN2	79867	HP:0002251	Aganglionic megacolon
ORPHANET:475	TCTN2	79867	HP:0001161	Hand polydactyly
ORPHANET:475	TCTN2	79867	HP:0001250	Seizures
ORPHANET:475	TCTN2	79867	HP:0000341	Narrow forehead
ORPHANET:475	TCTN2	79867	HP:0000612	Iris coloboma
ORPHANET:475	TCTN2	79867	HP:0001337	Tremor
ORPHANET:475	TCTN2	79867	HP:0002104	Apnea
ORPHANET:475	TCTN2	79867	HP:0001829	Foot polydactyly
ORPHANET:475	TCTN2	79867	HP:0001696	Situs inversus totalis
ORPHANET:475	TCTN2	79867	HP:0000238	Hydrocephalus
ORPHANET:475	TCTN2	79867	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	TCTN2	79867	HP:0000657	Oculomotor apraxia
ORPHANET:475	KIAA0586	9786	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	KIAA0586	9786	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	KIAA0586	9786	HP:0000486	Strabismus
ORPHANET:475	KIAA0586	9786	HP:0002084	Encephalocele
ORPHANET:475	KIAA0586	9786	HP:0002553	Highly arched eyebrow
ORPHANET:475	KIAA0586	9786	HP:0000202	Oral cleft
ORPHANET:475	KIAA0586	9786	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	KIAA0586	9786	HP:0001252	Muscular hypotonia
ORPHANET:475	KIAA0586	9786	HP:0001288	Gait disturbance
ORPHANET:475	KIAA0586	9786	HP:0000463	Anteverted nares
ORPHANET:475	KIAA0586	9786	HP:0000426	Prominent nasal bridge
ORPHANET:475	KIAA0586	9786	HP:0000639	Nystagmus
ORPHANET:475	KIAA0586	9786	HP:0100543	Cognitive impairment
ORPHANET:475	KIAA0586	9786	HP:0000276	Long face
ORPHANET:475	KIAA0586	9786	HP:0002311	Incoordination
ORPHANET:475	KIAA0586	9786	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	KIAA0586	9786	HP:0002650	Scoliosis
ORPHANET:475	KIAA0586	9786	HP:0000508	Ptosis
ORPHANET:475	KIAA0586	9786	HP:0002251	Aganglionic megacolon
ORPHANET:475	KIAA0586	9786	HP:0001161	Hand polydactyly
ORPHANET:475	KIAA0586	9786	HP:0001250	Seizures
ORPHANET:475	KIAA0586	9786	HP:0000341	Narrow forehead
ORPHANET:475	KIAA0586	9786	HP:0000612	Iris coloboma
ORPHANET:475	KIAA0586	9786	HP:0001337	Tremor
ORPHANET:475	KIAA0586	9786	HP:0002104	Apnea
ORPHANET:475	KIAA0586	9786	HP:0001829	Foot polydactyly
ORPHANET:475	KIAA0586	9786	HP:0001696	Situs inversus totalis
ORPHANET:475	KIAA0586	9786	HP:0000238	Hydrocephalus
ORPHANET:475	KIAA0586	9786	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	KIAA0586	9786	HP:0000657	Oculomotor apraxia
ORPHANET:475	ARL13B	200894	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:475	ARL13B	200894	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:475	ARL13B	200894	HP:0000486	Strabismus
ORPHANET:475	ARL13B	200894	HP:0002084	Encephalocele
ORPHANET:475	ARL13B	200894	HP:0002553	Highly arched eyebrow
ORPHANET:475	ARL13B	200894	HP:0000202	Oral cleft
ORPHANET:475	ARL13B	200894	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:475	ARL13B	200894	HP:0001252	Muscular hypotonia
ORPHANET:475	ARL13B	200894	HP:0001288	Gait disturbance
ORPHANET:475	ARL13B	200894	HP:0000463	Anteverted nares
ORPHANET:475	ARL13B	200894	HP:0000426	Prominent nasal bridge
ORPHANET:475	ARL13B	200894	HP:0000639	Nystagmus
ORPHANET:475	ARL13B	200894	HP:0100543	Cognitive impairment
ORPHANET:475	ARL13B	200894	HP:0000276	Long face
ORPHANET:475	ARL13B	200894	HP:0002311	Incoordination
ORPHANET:475	ARL13B	200894	HP:0002269	Abnormality of neuronal migration
ORPHANET:475	ARL13B	200894	HP:0002650	Scoliosis
ORPHANET:475	ARL13B	200894	HP:0000508	Ptosis
ORPHANET:475	ARL13B	200894	HP:0002251	Aganglionic megacolon
ORPHANET:475	ARL13B	200894	HP:0001161	Hand polydactyly
ORPHANET:475	ARL13B	200894	HP:0001250	Seizures
ORPHANET:475	ARL13B	200894	HP:0000341	Narrow forehead
ORPHANET:475	ARL13B	200894	HP:0000612	Iris coloboma
ORPHANET:475	ARL13B	200894	HP:0001337	Tremor
ORPHANET:475	ARL13B	200894	HP:0002104	Apnea
ORPHANET:475	ARL13B	200894	HP:0001829	Foot polydactyly
ORPHANET:475	ARL13B	200894	HP:0001696	Situs inversus totalis
ORPHANET:475	ARL13B	200894	HP:0000238	Hydrocephalus
ORPHANET:475	ARL13B	200894	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:475	ARL13B	200894	HP:0000657	Oculomotor apraxia
OMIM:232800	PFKM	5213	HP:0001923	Reticulocytosis
OMIM:232800	PFKM	5213	HP:0003828	Variable expressivity
OMIM:232800	PFKM	5213	HP:0000007	Autosomal recessive inheritance
OMIM:232800	PFKM	5213	HP:0003202	Skeletal muscle atrophy
OMIM:232800	PFKM	5213	HP:0001878	Hemolytic anemia
OMIM:232800	PFKM	5213	HP:0000952	Jaundice
OMIM:232800	PFKM	5213	HP:0003546	Exercise intolerance
OMIM:232800	PFKM	5213	HP:0001324	Muscle weakness
OMIM:232800	PFKM	5213	HP:0003710	Exercise-induced muscle cramps
OMIM:232800	PFKM	5213	HP:0008305	Exercise-induced myoglobinuria
OMIM:232800	PFKM	5213	HP:0001081	Cholelithiasis
OMIM:247100	ECM1	1893	HP:0011362	Abnormal hair quantity
OMIM:247100	ECM1	1893	HP:0011999	Paranoia
OMIM:247100	ECM1	1893	HP:0000718	Aggressive behavior
OMIM:247100	ECM1	1893	HP:0001250	Seizures
OMIM:247100	ECM1	1893	HP:0000179	Thick lower lip vermilion
OMIM:247100	ECM1	1893	HP:0002514	Cerebral calcification
OMIM:247100	ECM1	1893	HP:0200043	Verrucae
OMIM:247100	ECM1	1893	HP:0000007	Autosomal recessive inheritance
OMIM:247100	ECM1	1893	HP:0008872	Feeding difficulties in infancy
OMIM:247100	ECM1	1893	HP:0000987	Atypical scarring of skin
OMIM:247100	ECM1	1893	HP:0001061	Acne
OMIM:247100	ECM1	1893	HP:0001609	Hoarse voice
OMIM:247100	ECM1	1893	HP:0000478	Abnormality of the eye
OMIM:247100	ECM1	1893	HP:0002205	Recurrent respiratory infections
OMIM:247100	ECM1	1893	HP:0001608	Abnormality of the voice
OMIM:247100	ECM1	1893	HP:0000962	Hyperkeratosis
OMIM:247100	ECM1	1893	HP:0000951	Abnormality of the skin
OMIM:247100	ECM1	1893	HP:0000738	Hallucinations
OMIM:247100	ECM1	1893	HP:0002354	Memory impairment
OMIM:247100	ECM1	1893	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:601992	FXN	2395	HP:0001635	Congestive heart failure
OMIM:601992	FXN	2395	HP:0001761	Pes cavus
OMIM:601992	FXN	2395	HP:0001260	Dysarthria
OMIM:601992	FXN	2395	HP:0000639	Nystagmus
OMIM:601992	FXN	2395	HP:0003134	Abnormality of peripheral nerve conduction
OMIM:601992	FXN	2395	HP:0001765	Hammertoe
OMIM:601992	FXN	2395	HP:0003115	Abnormal EKG
OMIM:601992	FXN	2395	HP:0001251	Ataxia
OMIM:601992	FXN	2395	HP:0001315	Reduced tendon reflexes
OMIM:601992	FXN	2395	HP:0002495	Impaired vibratory sensation
OMIM:601992	FXN	2395	HP:0002311	Incoordination
OMIM:601992	FXN	2395	HP:0002650	Scoliosis
OMIM:601992	FXN	2395	HP:0003621	Juvenile onset
OMIM:601992	FXN	2395	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:601992	FXN	2395	HP:0000007	Autosomal recessive inheritance
OMIM:601992	FXN	2395	HP:0003487	Babinski sign
OMIM:247440	VEGFC	7424	HP:0000811	Abnormal external genitalia
OMIM:247440	VEGFC	7424	HP:0000007	Autosomal recessive inheritance
OMIM:247440	FLT4	2324	HP:0000811	Abnormal external genitalia
OMIM:247440	FLT4	2324	HP:0000007	Autosomal recessive inheritance
OMIM:247440	GJC2	57165	HP:0000811	Abnormal external genitalia
OMIM:247440	GJC2	57165	HP:0000007	Autosomal recessive inheritance
OMIM:300510	NR5A1	2516	HP:0000130	Abnormality of the uterus
OMIM:300510	NR5A1	2516	HP:0001007	Hirsutism
OMIM:300510	NR5A1	2516	HP:0000786	Primary amenorrhea
OMIM:300510	NR5A1	2516	HP:0000815	Hypergonadotropic hypogonadism
OMIM:300510	PSMC3IP	29893	HP:0000130	Abnormality of the uterus
OMIM:300510	PSMC3IP	29893	HP:0001007	Hirsutism
OMIM:300510	PSMC3IP	29893	HP:0000786	Primary amenorrhea
OMIM:300510	PSMC3IP	29893	HP:0000815	Hypergonadotropic hypogonadism
OMIM:300510	BMP15	9210	HP:0000130	Abnormality of the uterus
OMIM:300510	BMP15	9210	HP:0001007	Hirsutism
OMIM:300510	BMP15	9210	HP:0000786	Primary amenorrhea
OMIM:300510	BMP15	9210	HP:0000815	Hypergonadotropic hypogonadism
OMIM:300510	FSHR	2492	HP:0000130	Abnormality of the uterus
OMIM:300510	FSHR	2492	HP:0001007	Hirsutism
OMIM:300510	FSHR	2492	HP:0000786	Primary amenorrhea
OMIM:300510	FSHR	2492	HP:0000815	Hypergonadotropic hypogonadism
OMIM:614974	CYP26C1	340665	HP:0000007	Autosomal recessive inheritance
OMIM:131100	CDKN1A	1026	HP:0000006	Autosomal dominant inheritance
OMIM:131100	CDKN1A	1026	HP:0004295	Abnormality of the gastric mucosa
OMIM:131100	CDKN1A	1026	HP:0000845	Growth hormone excess
OMIM:131100	CDKN1A	1026	HP:0001943	Hypoglycemia
OMIM:131100	CDKN1A	1026	HP:0004398	Peptic ulcer
OMIM:131100	CDKN1A	1026	HP:0003072	Hypercalcemia
OMIM:131100	CDKN1A	1026	HP:0000843	Hyperparathyroidism
OMIM:131100	CDKN1A	1026	HP:0000820	Abnormality of the thyroid gland
OMIM:131100	CDKN1A	1026	HP:0000957	Cafe-au-lait spot
OMIM:131100	CDKN1A	1026	HP:0001578	Hypercortisolism
OMIM:131100	CDKN1A	1026	HP:0006767	Pituitary prolactin cell adenoma
OMIM:131100	CDKN1A	1026	HP:0002893	Pituitary adenoma
OMIM:131100	CDKN1A	1026	HP:0002014	Diarrhea
OMIM:131100	CDKN1B	1027	HP:0000006	Autosomal dominant inheritance
OMIM:131100	CDKN1B	1027	HP:0004295	Abnormality of the gastric mucosa
OMIM:131100	CDKN1B	1027	HP:0000845	Growth hormone excess
OMIM:131100	CDKN1B	1027	HP:0001943	Hypoglycemia
OMIM:131100	CDKN1B	1027	HP:0004398	Peptic ulcer
OMIM:131100	CDKN1B	1027	HP:0003072	Hypercalcemia
OMIM:131100	CDKN1B	1027	HP:0000843	Hyperparathyroidism
OMIM:131100	CDKN1B	1027	HP:0000820	Abnormality of the thyroid gland
OMIM:131100	CDKN1B	1027	HP:0000957	Cafe-au-lait spot
OMIM:131100	CDKN1B	1027	HP:0001578	Hypercortisolism
OMIM:131100	CDKN1B	1027	HP:0006767	Pituitary prolactin cell adenoma
OMIM:131100	CDKN1B	1027	HP:0002893	Pituitary adenoma
OMIM:131100	CDKN1B	1027	HP:0002014	Diarrhea
OMIM:131100	CDKN2B	1030	HP:0000006	Autosomal dominant inheritance
OMIM:131100	CDKN2B	1030	HP:0004295	Abnormality of the gastric mucosa
OMIM:131100	CDKN2B	1030	HP:0000845	Growth hormone excess
OMIM:131100	CDKN2B	1030	HP:0001943	Hypoglycemia
OMIM:131100	CDKN2B	1030	HP:0004398	Peptic ulcer
OMIM:131100	CDKN2B	1030	HP:0003072	Hypercalcemia
OMIM:131100	CDKN2B	1030	HP:0000843	Hyperparathyroidism
OMIM:131100	CDKN2B	1030	HP:0000820	Abnormality of the thyroid gland
OMIM:131100	CDKN2B	1030	HP:0000957	Cafe-au-lait spot
OMIM:131100	CDKN2B	1030	HP:0001578	Hypercortisolism
OMIM:131100	CDKN2B	1030	HP:0006767	Pituitary prolactin cell adenoma
OMIM:131100	CDKN2B	1030	HP:0002893	Pituitary adenoma
OMIM:131100	CDKN2B	1030	HP:0002014	Diarrhea
OMIM:131100	CDKN2C	1031	HP:0000006	Autosomal dominant inheritance
OMIM:131100	CDKN2C	1031	HP:0004295	Abnormality of the gastric mucosa
OMIM:131100	CDKN2C	1031	HP:0000845	Growth hormone excess
OMIM:131100	CDKN2C	1031	HP:0001943	Hypoglycemia
OMIM:131100	CDKN2C	1031	HP:0004398	Peptic ulcer
OMIM:131100	CDKN2C	1031	HP:0003072	Hypercalcemia
OMIM:131100	CDKN2C	1031	HP:0000843	Hyperparathyroidism
OMIM:131100	CDKN2C	1031	HP:0000820	Abnormality of the thyroid gland
OMIM:131100	CDKN2C	1031	HP:0000957	Cafe-au-lait spot
OMIM:131100	CDKN2C	1031	HP:0001578	Hypercortisolism
OMIM:131100	CDKN2C	1031	HP:0006767	Pituitary prolactin cell adenoma
OMIM:131100	CDKN2C	1031	HP:0002893	Pituitary adenoma
OMIM:131100	CDKN2C	1031	HP:0002014	Diarrhea
OMIM:131100	MEN1	4221	HP:0000006	Autosomal dominant inheritance
OMIM:131100	MEN1	4221	HP:0004295	Abnormality of the gastric mucosa
OMIM:131100	MEN1	4221	HP:0000845	Growth hormone excess
OMIM:131100	MEN1	4221	HP:0001943	Hypoglycemia
OMIM:131100	MEN1	4221	HP:0004398	Peptic ulcer
OMIM:131100	MEN1	4221	HP:0003072	Hypercalcemia
OMIM:131100	MEN1	4221	HP:0000843	Hyperparathyroidism
OMIM:131100	MEN1	4221	HP:0000820	Abnormality of the thyroid gland
OMIM:131100	MEN1	4221	HP:0000957	Cafe-au-lait spot
OMIM:131100	MEN1	4221	HP:0001578	Hypercortisolism
OMIM:131100	MEN1	4221	HP:0006767	Pituitary prolactin cell adenoma
OMIM:131100	MEN1	4221	HP:0002893	Pituitary adenoma
OMIM:131100	MEN1	4221	HP:0002014	Diarrhea
OMIM:616228	GFPT1	2673	HP:0003691	Scapular winging
OMIM:616228	GFPT1	2673	HP:0001270	Motor delay
OMIM:616228	GFPT1	2673	HP:0001252	Muscular hypotonia
OMIM:616228	GFPT1	2673	HP:0000218	High palate
OMIM:616228	GFPT1	2673	HP:0001371	Flexion contracture
OMIM:616228	GFPT1	2673	HP:0003307	Hyperlordosis
OMIM:616228	GFPT1	2673	HP:0001763	Pes planus
OMIM:616228	GFPT1	2673	HP:0003391	Gowers sign
OMIM:616228	GFPT1	2673	HP:0002650	Scoliosis
OMIM:616228	GFPT1	2673	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:616228	GFPT1	2673	HP:0002515	Waddling gait
OMIM:616228	GFPT1	2673	HP:0003325	Limb-girdle muscle weakness
OMIM:616228	ALG14	199857	HP:0003691	Scapular winging
OMIM:616228	ALG14	199857	HP:0001270	Motor delay
OMIM:616228	ALG14	199857	HP:0001252	Muscular hypotonia
OMIM:616228	ALG14	199857	HP:0000218	High palate
OMIM:616228	ALG14	199857	HP:0001371	Flexion contracture
OMIM:616228	ALG14	199857	HP:0003307	Hyperlordosis
OMIM:616228	ALG14	199857	HP:0001763	Pes planus
OMIM:616228	ALG14	199857	HP:0003391	Gowers sign
OMIM:616228	ALG14	199857	HP:0002650	Scoliosis
OMIM:616228	ALG14	199857	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:616228	ALG14	199857	HP:0002515	Waddling gait
OMIM:616228	ALG14	199857	HP:0003325	Limb-girdle muscle weakness
OMIM:616228	ALG2	85365	HP:0003691	Scapular winging
OMIM:616228	ALG2	85365	HP:0001270	Motor delay
OMIM:616228	ALG2	85365	HP:0001252	Muscular hypotonia
OMIM:616228	ALG2	85365	HP:0000218	High palate
OMIM:616228	ALG2	85365	HP:0001371	Flexion contracture
OMIM:616228	ALG2	85365	HP:0003307	Hyperlordosis
OMIM:616228	ALG2	85365	HP:0001763	Pes planus
OMIM:616228	ALG2	85365	HP:0003391	Gowers sign
OMIM:616228	ALG2	85365	HP:0002650	Scoliosis
OMIM:616228	ALG2	85365	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:616228	ALG2	85365	HP:0002515	Waddling gait
OMIM:616228	ALG2	85365	HP:0003325	Limb-girdle muscle weakness
OMIM:616228	DPAGT1	1798	HP:0003691	Scapular winging
OMIM:616228	DPAGT1	1798	HP:0001270	Motor delay
OMIM:616228	DPAGT1	1798	HP:0001252	Muscular hypotonia
OMIM:616228	DPAGT1	1798	HP:0000218	High palate
OMIM:616228	DPAGT1	1798	HP:0001371	Flexion contracture
OMIM:616228	DPAGT1	1798	HP:0003307	Hyperlordosis
OMIM:616228	DPAGT1	1798	HP:0001763	Pes planus
OMIM:616228	DPAGT1	1798	HP:0003391	Gowers sign
OMIM:616228	DPAGT1	1798	HP:0002650	Scoliosis
OMIM:616228	DPAGT1	1798	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:616228	DPAGT1	1798	HP:0002515	Waddling gait
OMIM:616228	DPAGT1	1798	HP:0003325	Limb-girdle muscle weakness
OMIM:615862	CEP83	51134	HP:0000238	Hydrocephalus
OMIM:615862	CEP83	51134	HP:0001396	Cholestasis
OMIM:615862	CEP83	51134	HP:0001970	Tubulointerstitial nephritis
OMIM:615862	CEP83	51134	HP:0003774	Stage 5 chronic kidney disease
OMIM:615862	CEP83	51134	HP:0000090	Nephronophthisis
OMIM:615862	CEP83	51134	HP:0001249	Intellectual disability
OMIM:615862	CEP83	51134	HP:0000486	Strabismus
OMIM:612526	FOS	2353	HP:0000007	Autosomal recessive inheritance
OMIM:612526	FOS	2353	HP:0004322	Short stature
OMIM:612526	FOS	2353	HP:0000956	Acanthosis nigricans
OMIM:612526	FOS	2353	HP:0001397	Hepatic steatosis
OMIM:612526	FOS	2353	HP:0001433	Hepatosplenomegaly
OMIM:612526	FOS	2353	HP:0001007	Hirsutism
OMIM:612526	FOS	2353	HP:0002155	Hypertriglyceridemia
OMIM:612526	FOS	2353	HP:0003124	Hypercholesterolemia
OMIM:612526	FOS	2353	HP:0000855	Insulin resistance
OMIM:612526	FOS	2353	HP:0000819	Diabetes mellitus
OMIM:612526	FOS	2353	HP:0009125	Lipodystrophy
OMIM:612526	FOS	2353	HP:0002901	Hypocalcemia
OMIM:612526	BSCL2	26580	HP:0000007	Autosomal recessive inheritance
OMIM:612526	BSCL2	26580	HP:0004322	Short stature
OMIM:612526	BSCL2	26580	HP:0000956	Acanthosis nigricans
OMIM:612526	BSCL2	26580	HP:0001397	Hepatic steatosis
OMIM:612526	BSCL2	26580	HP:0001433	Hepatosplenomegaly
OMIM:612526	BSCL2	26580	HP:0001007	Hirsutism
OMIM:612526	BSCL2	26580	HP:0002155	Hypertriglyceridemia
OMIM:612526	BSCL2	26580	HP:0003124	Hypercholesterolemia
OMIM:612526	BSCL2	26580	HP:0000855	Insulin resistance
OMIM:612526	BSCL2	26580	HP:0000819	Diabetes mellitus
OMIM:612526	BSCL2	26580	HP:0009125	Lipodystrophy
OMIM:612526	BSCL2	26580	HP:0002901	Hypocalcemia
OMIM:612526	CAV1	857	HP:0000007	Autosomal recessive inheritance
OMIM:612526	CAV1	857	HP:0004322	Short stature
OMIM:612526	CAV1	857	HP:0000956	Acanthosis nigricans
OMIM:612526	CAV1	857	HP:0001397	Hepatic steatosis
OMIM:612526	CAV1	857	HP:0001433	Hepatosplenomegaly
OMIM:612526	CAV1	857	HP:0001007	Hirsutism
OMIM:612526	CAV1	857	HP:0002155	Hypertriglyceridemia
OMIM:612526	CAV1	857	HP:0003124	Hypercholesterolemia
OMIM:612526	CAV1	857	HP:0000855	Insulin resistance
OMIM:612526	CAV1	857	HP:0000819	Diabetes mellitus
OMIM:612526	CAV1	857	HP:0009125	Lipodystrophy
OMIM:612526	CAV1	857	HP:0002901	Hypocalcemia
OMIM:612526	AGPAT2	10555	HP:0000007	Autosomal recessive inheritance
OMIM:612526	AGPAT2	10555	HP:0004322	Short stature
OMIM:612526	AGPAT2	10555	HP:0000956	Acanthosis nigricans
OMIM:612526	AGPAT2	10555	HP:0001397	Hepatic steatosis
OMIM:612526	AGPAT2	10555	HP:0001433	Hepatosplenomegaly
OMIM:612526	AGPAT2	10555	HP:0001007	Hirsutism
OMIM:612526	AGPAT2	10555	HP:0002155	Hypertriglyceridemia
OMIM:612526	AGPAT2	10555	HP:0003124	Hypercholesterolemia
OMIM:612526	AGPAT2	10555	HP:0000855	Insulin resistance
OMIM:612526	AGPAT2	10555	HP:0000819	Diabetes mellitus
OMIM:612526	AGPAT2	10555	HP:0009125	Lipodystrophy
OMIM:612526	AGPAT2	10555	HP:0002901	Hypocalcemia
OMIM:612526	PPARG	5468	HP:0000007	Autosomal recessive inheritance
OMIM:612526	PPARG	5468	HP:0004322	Short stature
OMIM:612526	PPARG	5468	HP:0000956	Acanthosis nigricans
OMIM:612526	PPARG	5468	HP:0001397	Hepatic steatosis
OMIM:612526	PPARG	5468	HP:0001433	Hepatosplenomegaly
OMIM:612526	PPARG	5468	HP:0001007	Hirsutism
OMIM:612526	PPARG	5468	HP:0002155	Hypertriglyceridemia
OMIM:612526	PPARG	5468	HP:0003124	Hypercholesterolemia
OMIM:612526	PPARG	5468	HP:0000855	Insulin resistance
OMIM:612526	PPARG	5468	HP:0000819	Diabetes mellitus
OMIM:612526	PPARG	5468	HP:0009125	Lipodystrophy
OMIM:612526	PPARG	5468	HP:0002901	Hypocalcemia
OMIM:613152	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:613152	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613152	POMT1	10585	HP:0003593	Infantile onset
OMIM:613152	POMT1	10585	HP:0001252	Muscular hypotonia
OMIM:613152	POMT1	10585	HP:0003741	Congenital muscular dystrophy
OMIM:613152	POMT1	10585	HP:0001270	Motor delay
OMIM:613152	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:613152	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613152	FKTN	2218	HP:0003593	Infantile onset
OMIM:613152	FKTN	2218	HP:0001252	Muscular hypotonia
OMIM:613152	FKTN	2218	HP:0003741	Congenital muscular dystrophy
OMIM:613152	FKTN	2218	HP:0001270	Motor delay
OMIM:613152	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:613152	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613152	FKRP	79147	HP:0003593	Infantile onset
OMIM:613152	FKRP	79147	HP:0001252	Muscular hypotonia
OMIM:613152	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:613152	FKRP	79147	HP:0001270	Motor delay
OMIM:613152	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:613152	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613152	ISPD	729920	HP:0003593	Infantile onset
OMIM:613152	ISPD	729920	HP:0001252	Muscular hypotonia
OMIM:613152	ISPD	729920	HP:0003741	Congenital muscular dystrophy
OMIM:613152	ISPD	729920	HP:0001270	Motor delay
ORPHANET:2907	FERMT1	55612	HP:0000217	Xerostomia
ORPHANET:2907	FERMT1	55612	HP:0000225	Gingival bleeding
ORPHANET:2907	FERMT1	55612	HP:0004322	Short stature
ORPHANET:2907	FERMT1	55612	HP:0000230	Gingivitis
ORPHANET:2907	FERMT1	55612	HP:0007759	Opacification of the corneal stroma
ORPHANET:2907	FERMT1	55612	HP:0100587	Abnormality of the preputium
ORPHANET:2907	FERMT1	55612	HP:0011024	Abnormality of the gastrointestinal tract
ORPHANET:2907	FERMT1	55612	HP:0100585	Telangiectasia of the skin
ORPHANET:2907	FERMT1	55612	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:2907	FERMT1	55612	HP:0000964	Eczema
ORPHANET:2907	FERMT1	55612	HP:0003272	Abnormality of the hip bone
ORPHANET:2907	FERMT1	55612	HP:0001231	Abnormality of the fingernails
ORPHANET:2907	FERMT1	55612	HP:0000689	Dental malocclusion
ORPHANET:2907	FERMT1	55612	HP:0100490	Camptodactyly of finger
ORPHANET:2907	FERMT1	55612	HP:0001053	Hypopigmented skin patches
ORPHANET:2907	FERMT1	55612	HP:0200042	Skin ulcer
ORPHANET:2907	FERMT1	55612	HP:0002648	Abnormality of calvarial morphology
ORPHANET:2907	FERMT1	55612	HP:0000982	Palmoplantar keratoderma
ORPHANET:2907	FERMT1	55612	HP:0008388	Abnormality of the toenails
ORPHANET:2907	FERMT1	55612	HP:0007400	Irregular hyperpigmentation
ORPHANET:2907	FERMT1	55612	HP:0008064	Ichthyosis
ORPHANET:2907	FERMT1	55612	HP:0000963	Thin skin
ORPHANET:2907	FERMT1	55612	HP:0006101	Finger syndactyly
ORPHANET:2907	FERMT1	55612	HP:0000365	Hearing impairment
ORPHANET:2907	FERMT1	55612	HP:0008069	Neoplasm of the skin
ORPHANET:2907	FERMT1	55612	HP:0001382	Joint hypermobility
ORPHANET:2907	FERMT1	55612	HP:0010296	Ankyloglossia
ORPHANET:2907	FERMT1	55612	HP:0000492	Abnormality of the eyelid
ORPHANET:2907	FERMT1	55612	HP:0000772	Abnormality of the ribs
ORPHANET:2907	FERMT1	55612	HP:0000795	Abnormality of the urethra
ORPHANET:2907	FERMT1	55612	HP:0001025	Urticaria
ORPHANET:2907	FERMT1	55612	HP:0000091	Abnormality of the renal tubule
OMIM:231070	PYCR1	5831	HP:0000768	Pectus carinatum
OMIM:231070	PYCR1	5831	HP:0000252	Microcephaly
OMIM:231070	PYCR1	5831	HP:0004322	Short stature
OMIM:231070	PYCR1	5831	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:231070	PYCR1	5831	HP:0000482	Microcornea
OMIM:231070	PYCR1	5831	HP:0000490	Deeply set eye
OMIM:231070	PYCR1	5831	HP:0002650	Scoliosis
OMIM:231070	PYCR1	5831	HP:0003272	Abnormality of the hip bone
OMIM:231070	PYCR1	5831	HP:0001763	Pes planus
OMIM:231070	PYCR1	5831	HP:0004349	Reduced bone mineral density
OMIM:231070	PYCR1	5831	HP:0005930	Abnormality of epiphysis morphology
OMIM:231070	PYCR1	5831	HP:0007495	Prematurely aged appearance
OMIM:231070	PYCR1	5831	HP:0000750	Delayed speech and language development
OMIM:231070	PYCR1	5831	HP:0001382	Joint hypermobility
OMIM:231070	PYCR1	5831	HP:0001252	Muscular hypotonia
OMIM:231070	PYCR1	5831	HP:0000303	Mandibular prognathia
OMIM:231070	PYCR1	5831	HP:0002980	Femoral bowing
OMIM:231070	PYCR1	5831	HP:0100543	Cognitive impairment
OMIM:231070	PYCR1	5831	HP:0000007	Autosomal recessive inheritance
OMIM:231070	PYCR1	5831	HP:0000973	Cutis laxa
OMIM:231070	PYCR1	5831	HP:0002645	Wormian bones
OMIM:231070	PYCR1	5831	HP:0012385	Camptodactyly
OMIM:231070	PYCR1	5831	HP:0000963	Thin skin
OMIM:231070	PYCR1	5831	HP:0001249	Intellectual disability
OMIM:231070	PYCR1	5831	HP:0000704	Periodontitis
OMIM:231070	PYCR1	5831	HP:0000926	Platyspondyly
OMIM:231070	PYCR1	5831	HP:0000939	Osteoporosis
OMIM:231070	PYCR1	5831	HP:0001883	Talipes
OMIM:231070	PYCR1	5831	HP:0002757	Recurrent fractures
OMIM:231070	PYCR1	5831	HP:0000272	Malar flattening
OMIM:231070	PYCR1	5831	HP:0000938	Osteopenia
OMIM:231070	PYCR1	5831	HP:0003510	Severe short stature
OMIM:231070	PYCR1	5831	HP:0000327	Hypoplasia of the maxilla
OMIM:231070	PYCR1	5831	HP:0100790	Hernia
OMIM:231070	PYCR1	5831	HP:0002982	Tibial bowing
OMIM:231070	PYCR1	5831	HP:0000974	Hyperextensible skin
OMIM:231070	GORAB	92344	HP:0000768	Pectus carinatum
OMIM:231070	GORAB	92344	HP:0000252	Microcephaly
OMIM:231070	GORAB	92344	HP:0004322	Short stature
OMIM:231070	GORAB	92344	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:231070	GORAB	92344	HP:0000482	Microcornea
OMIM:231070	GORAB	92344	HP:0000490	Deeply set eye
OMIM:231070	GORAB	92344	HP:0002650	Scoliosis
OMIM:231070	GORAB	92344	HP:0003272	Abnormality of the hip bone
OMIM:231070	GORAB	92344	HP:0001763	Pes planus
OMIM:231070	GORAB	92344	HP:0004349	Reduced bone mineral density
OMIM:231070	GORAB	92344	HP:0005930	Abnormality of epiphysis morphology
OMIM:231070	GORAB	92344	HP:0007495	Prematurely aged appearance
OMIM:231070	GORAB	92344	HP:0000750	Delayed speech and language development
OMIM:231070	GORAB	92344	HP:0001382	Joint hypermobility
OMIM:231070	GORAB	92344	HP:0001252	Muscular hypotonia
OMIM:231070	GORAB	92344	HP:0000303	Mandibular prognathia
OMIM:231070	GORAB	92344	HP:0002980	Femoral bowing
OMIM:231070	GORAB	92344	HP:0100543	Cognitive impairment
OMIM:231070	GORAB	92344	HP:0000007	Autosomal recessive inheritance
OMIM:231070	GORAB	92344	HP:0000973	Cutis laxa
OMIM:231070	GORAB	92344	HP:0002645	Wormian bones
OMIM:231070	GORAB	92344	HP:0012385	Camptodactyly
OMIM:231070	GORAB	92344	HP:0000963	Thin skin
OMIM:231070	GORAB	92344	HP:0001249	Intellectual disability
OMIM:231070	GORAB	92344	HP:0000704	Periodontitis
OMIM:231070	GORAB	92344	HP:0000926	Platyspondyly
OMIM:231070	GORAB	92344	HP:0000939	Osteoporosis
OMIM:231070	GORAB	92344	HP:0001883	Talipes
OMIM:231070	GORAB	92344	HP:0002757	Recurrent fractures
OMIM:231070	GORAB	92344	HP:0000272	Malar flattening
OMIM:231070	GORAB	92344	HP:0000938	Osteopenia
OMIM:231070	GORAB	92344	HP:0003510	Severe short stature
OMIM:231070	GORAB	92344	HP:0000327	Hypoplasia of the maxilla
OMIM:231070	GORAB	92344	HP:0100790	Hernia
OMIM:231070	GORAB	92344	HP:0002982	Tibial bowing
OMIM:231070	GORAB	92344	HP:0000974	Hyperextensible skin
OMIM:614830	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:614830	B4GAT1	11041	HP:0000568	Microphthalmia
OMIM:614830	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
OMIM:614830	B4GAT1	11041	HP:0001263	Global developmental delay
OMIM:614830	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:614830	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:614830	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:614830	B4GAT1	11041	HP:0007973	Retinal dysplasia
OMIM:614830	B4GAT1	11041	HP:0002119	Ventriculomegaly
OMIM:614830	B4GAT1	11041	HP:0001252	Muscular hypotonia
OMIM:614830	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:614830	POMT2	29954	HP:0000568	Microphthalmia
OMIM:614830	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:614830	POMT2	29954	HP:0001263	Global developmental delay
OMIM:614830	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:614830	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:614830	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:614830	POMT2	29954	HP:0007973	Retinal dysplasia
OMIM:614830	POMT2	29954	HP:0002119	Ventriculomegaly
OMIM:614830	POMT2	29954	HP:0001252	Muscular hypotonia
OMIM:614830	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:614830	COL4A1	1282	HP:0000568	Microphthalmia
OMIM:614830	COL4A1	1282	HP:0001321	Cerebellar hypoplasia
OMIM:614830	COL4A1	1282	HP:0001263	Global developmental delay
OMIM:614830	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:614830	COL4A1	1282	HP:0003560	Muscular dystrophy
OMIM:614830	COL4A1	1282	HP:0000007	Autosomal recessive inheritance
OMIM:614830	COL4A1	1282	HP:0007973	Retinal dysplasia
OMIM:614830	COL4A1	1282	HP:0002119	Ventriculomegaly
OMIM:614830	COL4A1	1282	HP:0001252	Muscular hypotonia
OMIM:614830	POMK	84197	HP:0000238	Hydrocephalus
OMIM:614830	POMK	84197	HP:0000568	Microphthalmia
OMIM:614830	POMK	84197	HP:0001321	Cerebellar hypoplasia
OMIM:614830	POMK	84197	HP:0001263	Global developmental delay
OMIM:614830	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:614830	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:614830	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:614830	POMK	84197	HP:0007973	Retinal dysplasia
OMIM:614830	POMK	84197	HP:0002119	Ventriculomegaly
OMIM:614830	POMK	84197	HP:0001252	Muscular hypotonia
OMIM:614830	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:614830	DAG1	1605	HP:0000568	Microphthalmia
OMIM:614830	DAG1	1605	HP:0001321	Cerebellar hypoplasia
OMIM:614830	DAG1	1605	HP:0001263	Global developmental delay
OMIM:614830	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:614830	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:614830	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:614830	DAG1	1605	HP:0007973	Retinal dysplasia
OMIM:614830	DAG1	1605	HP:0002119	Ventriculomegaly
OMIM:614830	DAG1	1605	HP:0001252	Muscular hypotonia
OMIM:614830	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:614830	POMGNT1	55624	HP:0000568	Microphthalmia
OMIM:614830	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:614830	POMGNT1	55624	HP:0001263	Global developmental delay
OMIM:614830	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:614830	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:614830	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:614830	POMGNT1	55624	HP:0007973	Retinal dysplasia
OMIM:614830	POMGNT1	55624	HP:0002119	Ventriculomegaly
OMIM:614830	POMGNT1	55624	HP:0001252	Muscular hypotonia
OMIM:614830	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:614830	FKTN	2218	HP:0000568	Microphthalmia
OMIM:614830	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:614830	FKTN	2218	HP:0001263	Global developmental delay
OMIM:614830	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:614830	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:614830	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:614830	FKTN	2218	HP:0007973	Retinal dysplasia
OMIM:614830	FKTN	2218	HP:0002119	Ventriculomegaly
OMIM:614830	FKTN	2218	HP:0001252	Muscular hypotonia
OMIM:614830	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:614830	FKRP	79147	HP:0000568	Microphthalmia
OMIM:614830	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:614830	FKRP	79147	HP:0001263	Global developmental delay
OMIM:614830	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:614830	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:614830	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:614830	FKRP	79147	HP:0007973	Retinal dysplasia
OMIM:614830	FKRP	79147	HP:0002119	Ventriculomegaly
OMIM:614830	FKRP	79147	HP:0001252	Muscular hypotonia
OMIM:614830	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:614830	ISPD	729920	HP:0000568	Microphthalmia
OMIM:614830	ISPD	729920	HP:0001321	Cerebellar hypoplasia
OMIM:614830	ISPD	729920	HP:0001263	Global developmental delay
OMIM:614830	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:614830	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:614830	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:614830	ISPD	729920	HP:0007973	Retinal dysplasia
OMIM:614830	ISPD	729920	HP:0002119	Ventriculomegaly
OMIM:614830	ISPD	729920	HP:0001252	Muscular hypotonia
OMIM:614830	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:614830	B3GALNT2	148789	HP:0000568	Microphthalmia
OMIM:614830	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:614830	B3GALNT2	148789	HP:0001263	Global developmental delay
OMIM:614830	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:614830	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:614830	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:614830	B3GALNT2	148789	HP:0007973	Retinal dysplasia
OMIM:614830	B3GALNT2	148789	HP:0002119	Ventriculomegaly
OMIM:614830	B3GALNT2	148789	HP:0001252	Muscular hypotonia
OMIM:614830	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:614830	POMT1	10585	HP:0000568	Microphthalmia
OMIM:614830	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:614830	POMT1	10585	HP:0001263	Global developmental delay
OMIM:614830	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:614830	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:614830	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:614830	POMT1	10585	HP:0007973	Retinal dysplasia
OMIM:614830	POMT1	10585	HP:0002119	Ventriculomegaly
OMIM:614830	POMT1	10585	HP:0001252	Muscular hypotonia
OMIM:614830	TMEM5	10329	HP:0000238	Hydrocephalus
OMIM:614830	TMEM5	10329	HP:0000568	Microphthalmia
OMIM:614830	TMEM5	10329	HP:0001321	Cerebellar hypoplasia
OMIM:614830	TMEM5	10329	HP:0001263	Global developmental delay
OMIM:614830	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:614830	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:614830	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:614830	TMEM5	10329	HP:0007973	Retinal dysplasia
OMIM:614830	TMEM5	10329	HP:0002119	Ventriculomegaly
OMIM:614830	TMEM5	10329	HP:0001252	Muscular hypotonia
OMIM:614830	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:614830	POMGNT2	84892	HP:0000568	Microphthalmia
OMIM:614830	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
OMIM:614830	POMGNT2	84892	HP:0001263	Global developmental delay
OMIM:614830	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:614830	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:614830	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:614830	POMGNT2	84892	HP:0007973	Retinal dysplasia
OMIM:614830	POMGNT2	84892	HP:0002119	Ventriculomegaly
OMIM:614830	POMGNT2	84892	HP:0001252	Muscular hypotonia
OMIM:614830	LARGE	9215	HP:0000238	Hydrocephalus
OMIM:614830	LARGE	9215	HP:0000568	Microphthalmia
OMIM:614830	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:614830	LARGE	9215	HP:0001263	Global developmental delay
OMIM:614830	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:614830	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:614830	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:614830	LARGE	9215	HP:0007973	Retinal dysplasia
OMIM:614830	LARGE	9215	HP:0002119	Ventriculomegaly
OMIM:614830	LARGE	9215	HP:0001252	Muscular hypotonia
OMIM:256850	GAN	8139	HP:0002650	Scoliosis
OMIM:256850	GAN	8139	HP:0003376	Steppage gait
OMIM:256850	GAN	8139	HP:0010628	Facial palsy
OMIM:256850	GAN	8139	HP:0001317	Abnormality of the cerebellum
OMIM:256850	GAN	8139	HP:0002936	Distal sensory impairment
OMIM:256850	GAN	8139	HP:0003701	Proximal muscle weakness
OMIM:256850	GAN	8139	HP:0000007	Autosomal recessive inheritance
OMIM:256850	GAN	8139	HP:0003677	Slow progression
OMIM:256850	GAN	8139	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:256850	GAN	8139	HP:0002460	Distal muscle weakness
OMIM:256850	GAN	8139	HP:0001260	Dysarthria
OMIM:256850	GAN	8139	HP:0001763	Pes planus
OMIM:256850	GAN	8139	HP:0002212	Curly hair
OMIM:256850	GAN	8139	HP:0007256	Abnormal pyramidal signs
OMIM:256850	GAN	8139	HP:0001258	Spastic paraplegia
OMIM:256850	GAN	8139	HP:0000639	Nystagmus
OMIM:256850	GAN	8139	HP:0001347	Hyperreflexia
OMIM:256850	GAN	8139	HP:0001762	Talipes equinovarus
OMIM:256850	GAN	8139	HP:0003693	Distal amyotrophy
OMIM:256850	GAN	8139	HP:0003621	Juvenile onset
OMIM:256850	GAN	8139	HP:0001761	Pes cavus
OMIM:256850	GAN	8139	HP:0003812	Phenotypic variability
OMIM:256850	GAN	8139	HP:0001249	Intellectual disability
OMIM:256850	GAN	8139	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:256850	GAN	8139	HP:0001155	Abnormality of the hand
OMIM:612656	SLC1A3	6507	HP:0002131	Episodic ataxia
OMIM:612656	SLC1A3	6507	HP:0001250	Seizures
OMIM:612656	SLC1A3	6507	HP:0002078	Truncal ataxia
OMIM:612656	SLC1A3	6507	HP:0002076	Migraine
OMIM:174800	GNAS	2778	HP:0000957	Cafe-au-lait spot
OMIM:174800	GNAS	2778	HP:0000098	Tall stature
OMIM:174800	GNAS	2778	HP:0002757	Recurrent fractures
OMIM:174800	GNAS	2778	HP:0004493	Craniofacial hyperostosis
OMIM:174800	GNAS	2778	HP:0100013	Neoplasm of the breast
OMIM:174800	GNAS	2778	HP:0000324	Facial asymmetry
OMIM:174800	GNAS	2778	HP:0007440	Generalized hyperpigmentation
OMIM:174800	GNAS	2778	HP:0000053	Macroorchidism
OMIM:174800	GNAS	2778	HP:0010788	Testicular neoplasm
OMIM:174800	GNAS	2778	HP:0002756	Pathologic fracture
OMIM:174800	GNAS	2778	HP:0200008	Intestinal polyposis
OMIM:174800	GNAS	2778	HP:0002910	Elevated hepatic transaminases
OMIM:174800	GNAS	2778	HP:0002148	Hypophosphatemia
OMIM:174800	GNAS	2778	HP:0100242	Sarcoma
OMIM:174800	GNAS	2778	HP:0002653	Bone pain
OMIM:174800	GNAS	2778	HP:0000670	Carious teeth
OMIM:174800	GNAS	2778	HP:0000682	Abnormality of dental enamel
OMIM:174800	GNAS	2778	HP:0000040	Long penis
OMIM:174800	GNAS	2778	HP:0000843	Hyperparathyroidism
OMIM:174800	GNAS	2778	HP:0000364	Hearing abnormality
OMIM:174800	GNAS	2778	HP:0002893	Pituitary adenoma
OMIM:174800	GNAS	2778	HP:0000826	Precocious puberty
OMIM:174800	GNAS	2778	HP:0000648	Optic atrophy
OMIM:174800	GNAS	2778	HP:0000147	Polycystic ovaries
OMIM:174800	GNAS	2778	HP:0001578	Hypercortisolism
OMIM:174800	GNAS	2778	HP:0001928	Abnormality of coagulation
OMIM:174800	GNAS	2778	HP:0010735	Polyostotic fibrous dysplasia
OMIM:174800	GNAS	2778	HP:0000836	Hyperthyroidism
OMIM:174800	GNAS	2778	HP:0005605	Large cafe-au-lait macules with irregular margins
OMIM:174800	GNAS	2778	HP:0000853	Goiter
OMIM:174800	GNAS	2778	HP:0004349	Reduced bone mineral density
OMIM:174800	GNAS	2778	HP:0000256	Macrocephaly
OMIM:174800	GNAS	2778	HP:0000845	Growth hormone excess
OMIM:174800	GNAS	2778	HP:0000618	Blindness
OMIM:174800	GNAS	2778	HP:0000870	Prolactin excess
OMIM:174800	GNAS	2778	HP:0002808	Kyphosis
OMIM:174800	GNAS	2778	HP:0002652	Skeletal dysplasia
OMIM:174800	GNAS	2778	HP:0000365	Hearing impairment
OMIM:174800	GNAS	2778	HP:0000689	Dental malocclusion
OMIM:174800	GNAS	2778	HP:0000174	Abnormality of the palate
OMIM:174800	GNAS	2778	HP:0100031	Neoplasm of the thyroid gland
OMIM:174800	GNAS	2778	HP:0000303	Mandibular prognathia
OMIM:174800	GNAS	2778	HP:0003812	Phenotypic variability
OMIM:174800	GNAS	2778	HP:0001442	Somatic mosaicism
OMIM:158901	SMCHD1	23347	HP:0003691	Scapular winging
OMIM:158901	SMCHD1	23347	HP:0000365	Hearing impairment
OMIM:158901	SMCHD1	23347	HP:0010984	Digenic inheritance
OMIM:158901	SMCHD1	23347	HP:0009027	Foot dorsiflexor weakness
OMIM:158901	SMCHD1	23347	HP:0003749	Pelvic girdle muscle weakness
OMIM:158901	SMCHD1	23347	HP:0010628	Facial palsy
OMIM:158901	FRG1	2483	HP:0003691	Scapular winging
OMIM:158901	FRG1	2483	HP:0000365	Hearing impairment
OMIM:158901	FRG1	2483	HP:0010984	Digenic inheritance
OMIM:158901	FRG1	2483	HP:0009027	Foot dorsiflexor weakness
OMIM:158901	FRG1	2483	HP:0003749	Pelvic girdle muscle weakness
OMIM:158901	FRG1	2483	HP:0010628	Facial palsy
OMIM:158901	DUX4	100288687	HP:0003691	Scapular winging
OMIM:158901	DUX4	100288687	HP:0000365	Hearing impairment
OMIM:158901	DUX4	100288687	HP:0010984	Digenic inheritance
OMIM:158901	DUX4	100288687	HP:0009027	Foot dorsiflexor weakness
OMIM:158901	DUX4	100288687	HP:0003749	Pelvic girdle muscle weakness
OMIM:158901	DUX4	100288687	HP:0010628	Facial palsy
ORPHANET:52416	CCND1	595	HP:0002039	Anorexia
ORPHANET:52416	CCND1	595	HP:0001824	Weight loss
ORPHANET:52416	CCND1	595	HP:0002716	Lymphadenopathy
ORPHANET:52416	CCND1	595	HP:0001744	Splenomegaly
ORPHANET:52416	CCND1	595	HP:0004377	Hematological neoplasm
ORPHANET:52416	ATM	472	HP:0002039	Anorexia
ORPHANET:52416	ATM	472	HP:0001824	Weight loss
ORPHANET:52416	ATM	472	HP:0002716	Lymphadenopathy
ORPHANET:52416	ATM	472	HP:0001744	Splenomegaly
ORPHANET:52416	ATM	472	HP:0004377	Hematological neoplasm
OMIM:300472	IGBP1	3476	HP:0000218	High palate
OMIM:300472	IGBP1	3476	HP:0000470	Short neck
OMIM:300472	IGBP1	3476	HP:0000369	Low-set ears
OMIM:300472	IGBP1	3476	HP:0000453	Choanal atresia
OMIM:300472	IGBP1	3476	HP:0000588	Optic nerve coloboma
OMIM:300472	IGBP1	3476	HP:0001249	Intellectual disability
OMIM:300472	IGBP1	3476	HP:0004322	Short stature
OMIM:300472	IGBP1	3476	HP:0000639	Nystagmus
OMIM:300472	IGBP1	3476	HP:0000767	Pectus excavatum
OMIM:300472	IGBP1	3476	HP:0000348	High forehead
OMIM:300472	IGBP1	3476	HP:0001419	X-linked recessive inheritance
OMIM:300472	IGBP1	3476	HP:0001643	Patent ductus arteriosus
OMIM:300472	IGBP1	3476	HP:0000256	Macrocephaly
OMIM:300472	IGBP1	3476	HP:0000378	Cupped ear
OMIM:300472	IGBP1	3476	HP:0000494	Downslanted palpebral fissures
OMIM:300472	IGBP1	3476	HP:0000407	Sensorineural hearing impairment
OMIM:300472	IGBP1	3476	HP:0000347	Micrognathia
OMIM:300472	IGBP1	3476	HP:0000426	Prominent nasal bridge
OMIM:300472	IGBP1	3476	HP:0001629	Ventricular septal defect
OMIM:300472	IGBP1	3476	HP:0002650	Scoliosis
OMIM:300472	IGBP1	3476	HP:0000175	Cleft palate
OMIM:300472	IGBP1	3476	HP:0000612	Iris coloboma
OMIM:300472	IGBP1	3476	HP:0000505	Visual impairment
OMIM:300472	IGBP1	3476	HP:0000405	Conductive hearing impairment
OMIM:300472	IGBP1	3476	HP:0000278	Retrognathia
OMIM:300472	IGBP1	3476	HP:0001274	Agenesis of corpus callosum
OMIM:300472	IGBP1	3476	HP:0100543	Cognitive impairment
OMIM:300472	IGBP1	3476	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613180	TUBA8	51807	HP:0000609	Optic nerve hypoplasia
OMIM:613180	TUBA8	51807	HP:0001319	Neonatal hypotonia
OMIM:613180	TUBA8	51807	HP:0003577	Congenital onset
OMIM:613180	TUBA8	51807	HP:0001250	Seizures
OMIM:613180	TUBA8	51807	HP:0000007	Autosomal recessive inheritance
OMIM:613180	TUBA8	51807	HP:0002187	Intellectual disability, profound
OMIM:613180	TUBA8	51807	HP:0030048	Colpocephaly
OMIM:613180	TUBA8	51807	HP:0001265	Hyporeflexia
OMIM:613180	TUBA8	51807	HP:0000252	Microcephaly
OMIM:613180	TUBA8	51807	HP:0001263	Global developmental delay
OMIM:613180	TUBA8	51807	HP:0002126	Polymicrogyria
OMIM:613180	TUBA8	51807	HP:0002365	Hypoplasia of the brainstem
OMIM:310300	FHL1	2273	HP:0001692	Primary atrial arrhythmia
OMIM:310300	FHL1	2273	HP:0003621	Juvenile onset
OMIM:310300	FHL1	2273	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
OMIM:310300	FHL1	2273	HP:0001771	Achilles tendon contracture
OMIM:310300	FHL1	2273	HP:0002515	Waddling gait
OMIM:310300	FHL1	2273	HP:0011463	Childhood onset
OMIM:310300	FHL1	2273	HP:0002987	Elbow flexion contracture
OMIM:310300	FHL1	2273	HP:0000767	Pectus excavatum
OMIM:310300	FHL1	2273	HP:0001419	X-linked recessive inheritance
OMIM:310300	FHL1	2273	HP:0003677	Slow progression
OMIM:310300	FHL1	2273	HP:0001678	Atrioventricular block
OMIM:310300	FHL1	2273	HP:0001645	Sudden cardiac death
OMIM:310300	FHL1	2273	HP:0000464	Abnormality of the neck
OMIM:310300	FHL1	2273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:310300	EMD	2010	HP:0001692	Primary atrial arrhythmia
OMIM:310300	EMD	2010	HP:0003621	Juvenile onset
OMIM:310300	EMD	2010	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
OMIM:310300	EMD	2010	HP:0001771	Achilles tendon contracture
OMIM:310300	EMD	2010	HP:0002515	Waddling gait
OMIM:310300	EMD	2010	HP:0011463	Childhood onset
OMIM:310300	EMD	2010	HP:0002987	Elbow flexion contracture
OMIM:310300	EMD	2010	HP:0000767	Pectus excavatum
OMIM:310300	EMD	2010	HP:0001419	X-linked recessive inheritance
OMIM:310300	EMD	2010	HP:0003677	Slow progression
OMIM:310300	EMD	2010	HP:0001678	Atrioventricular block
OMIM:310300	EMD	2010	HP:0001645	Sudden cardiac death
OMIM:310300	EMD	2010	HP:0000464	Abnormality of the neck
OMIM:310300	EMD	2010	HP:0003236	Elevated serum creatine phosphokinase
OMIM:120502	EYA1	2138	HP:0000377	Abnormality of the pinna
OMIM:120502	EYA1	2138	HP:0000365	Hearing impairment
OMIM:120502	EYA1	2138	HP:0000006	Autosomal dominant inheritance
OMIM:120502	EYA1	2138	HP:0004467	Preauricular pit
OMIM:120502	SIX1	6495	HP:0000377	Abnormality of the pinna
OMIM:120502	SIX1	6495	HP:0000365	Hearing impairment
OMIM:120502	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:120502	SIX1	6495	HP:0004467	Preauricular pit
OMIM:167100	HPGD	3248	HP:0000975	Hyperhidrosis
OMIM:167100	HPGD	3248	HP:0000508	Ptosis
OMIM:167100	HPGD	3248	HP:0000006	Autosomal dominant inheritance
OMIM:167100	HPGD	3248	HP:0001072	Thickened skin
OMIM:167100	SLCO2A1	6578	HP:0000975	Hyperhidrosis
OMIM:167100	SLCO2A1	6578	HP:0000508	Ptosis
OMIM:167100	SLCO2A1	6578	HP:0000006	Autosomal dominant inheritance
OMIM:167100	SLCO2A1	6578	HP:0001072	Thickened skin
OMIM:192605	GNAI2	2771	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:192605	GNAI2	2771	HP:0000006	Autosomal dominant inheritance
OMIM:192605	GNAI2	2771	HP:0001645	Sudden cardiac death
OMIM:615225	NLRP1	22861	HP:0000343	Long philtrum
OMIM:615225	NLRP1	22861	HP:0008404	Nail dystrophy
OMIM:615225	NLRP1	22861	HP:0000470	Short neck
OMIM:615225	NLRP1	22861	HP:0000006	Autosomal dominant inheritance
OMIM:615225	NLRP1	22861	HP:0000968	Ectodermal dysplasia
OMIM:615225	NLRP1	22861	HP:0000982	Palmoplantar keratoderma
OMIM:612540	CNTN1	1272	HP:0000300	Oval face
OMIM:612540	CNTN1	1272	HP:0009473	Joint contracture of the hand
OMIM:612540	CNTN1	1272	HP:0001284	Areflexia
OMIM:612540	CNTN1	1272	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612540	CNTN1	1272	HP:0001518	Small for gestational age
OMIM:612540	CNTN1	1272	HP:0000007	Autosomal recessive inheritance
OMIM:612540	CNTN1	1272	HP:0001522	Death in infancy
OMIM:612540	CNTN1	1272	HP:0012385	Camptodactyly
OMIM:612540	CNTN1	1272	HP:0001319	Neonatal hypotonia
OMIM:612540	CNTN1	1272	HP:0001166	Arachnodactyly
OMIM:612540	CNTN1	1272	HP:0000316	Hypertelorism
OMIM:612540	CNTN1	1272	HP:0002033	Poor suck
OMIM:612540	CNTN1	1272	HP:0000218	High palate
OMIM:612540	CNTN1	1272	HP:0000268	Dolichocephaly
OMIM:612540	CNTN1	1272	HP:0001561	Polyhydramnios
OMIM:601680	TNNI2	7136	HP:0000160	Narrow mouth
OMIM:601680	TNNI2	7136	HP:0001838	Rocker bottom foot
OMIM:601680	TNNI2	7136	HP:0000006	Autosomal dominant inheritance
OMIM:601680	TNNI2	7136	HP:0001376	Limitation of joint mobility
OMIM:601680	TNNI2	7136	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:601680	TNNI2	7136	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601680	TNNI2	7136	HP:0000598	Abnormality of the ear
OMIM:601680	TNNI2	7136	HP:0001181	Adducted thumb
OMIM:601680	TNNI2	7136	HP:0000347	Micrognathia
OMIM:601680	TNNI2	7136	HP:0100490	Camptodactyly of finger
OMIM:601680	TNNI2	7136	HP:0009465	Ulnar deviation of finger
OMIM:601680	TNNI2	7136	HP:0000174	Abnormality of the palate
OMIM:601680	TNNI2	7136	HP:0002650	Scoliosis
OMIM:601680	TNNI2	7136	HP:0004322	Short stature
OMIM:601680	TNNI2	7136	HP:0000218	High palate
OMIM:601680	TNNI2	7136	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:601680	TNNI2	7136	HP:0003422	Vertebral segmentation defect
OMIM:601680	TNNI2	7136	HP:0008368	Tarsal synostosis
OMIM:601680	TNNI2	7136	HP:0001840	Metatarsus adductus
OMIM:601680	TNNI2	7136	HP:0000470	Short neck
OMIM:601680	TNNI2	7136	HP:0000954	Single transverse palmar crease
OMIM:601680	TNNI2	7136	HP:0005105	Abnormal nasal morphology
OMIM:601680	TNNI2	7136	HP:0000494	Downslanted palpebral fissures
OMIM:601680	TNNI2	7136	HP:0000303	Mandibular prognathia
OMIM:601680	TNNI2	7136	HP:0000275	Narrow face
OMIM:601680	TNNI2	7136	HP:0006109	Absent phalangeal crease
OMIM:601680	TNNI2	7136	HP:0000325	Triangular face
OMIM:601680	TNNI2	7136	HP:0000465	Webbed neck
OMIM:601680	TNNI2	7136	HP:0001762	Talipes equinovarus
OMIM:601680	TNNI2	7136	HP:0100830	Round ear
OMIM:601680	TNNI2	7136	HP:0003272	Abnormality of the hip bone
OMIM:601680	TNNI2	7136	HP:0000343	Long philtrum
OMIM:601680	TNNI2	7136	HP:0000431	Wide nasal bridge
OMIM:601680	TPM2	7169	HP:0000160	Narrow mouth
OMIM:601680	TPM2	7169	HP:0001838	Rocker bottom foot
OMIM:601680	TPM2	7169	HP:0000006	Autosomal dominant inheritance
OMIM:601680	TPM2	7169	HP:0001376	Limitation of joint mobility
OMIM:601680	TPM2	7169	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:601680	TPM2	7169	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601680	TPM2	7169	HP:0000598	Abnormality of the ear
OMIM:601680	TPM2	7169	HP:0001181	Adducted thumb
OMIM:601680	TPM2	7169	HP:0000347	Micrognathia
OMIM:601680	TPM2	7169	HP:0100490	Camptodactyly of finger
OMIM:601680	TPM2	7169	HP:0009465	Ulnar deviation of finger
OMIM:601680	TPM2	7169	HP:0000174	Abnormality of the palate
OMIM:601680	TPM2	7169	HP:0002650	Scoliosis
OMIM:601680	TPM2	7169	HP:0004322	Short stature
OMIM:601680	TPM2	7169	HP:0000218	High palate
OMIM:601680	TPM2	7169	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:601680	TPM2	7169	HP:0003422	Vertebral segmentation defect
OMIM:601680	TPM2	7169	HP:0008368	Tarsal synostosis
OMIM:601680	TPM2	7169	HP:0001840	Metatarsus adductus
OMIM:601680	TPM2	7169	HP:0000470	Short neck
OMIM:601680	TPM2	7169	HP:0000954	Single transverse palmar crease
OMIM:601680	TPM2	7169	HP:0005105	Abnormal nasal morphology
OMIM:601680	TPM2	7169	HP:0000494	Downslanted palpebral fissures
OMIM:601680	TPM2	7169	HP:0000303	Mandibular prognathia
OMIM:601680	TPM2	7169	HP:0000275	Narrow face
OMIM:601680	TPM2	7169	HP:0006109	Absent phalangeal crease
OMIM:601680	TPM2	7169	HP:0000325	Triangular face
OMIM:601680	TPM2	7169	HP:0000465	Webbed neck
OMIM:601680	TPM2	7169	HP:0001762	Talipes equinovarus
OMIM:601680	TPM2	7169	HP:0100830	Round ear
OMIM:601680	TPM2	7169	HP:0003272	Abnormality of the hip bone
OMIM:601680	TPM2	7169	HP:0000343	Long philtrum
OMIM:601680	TPM2	7169	HP:0000431	Wide nasal bridge
OMIM:601680	TNNT3	7140	HP:0000160	Narrow mouth
OMIM:601680	TNNT3	7140	HP:0001838	Rocker bottom foot
OMIM:601680	TNNT3	7140	HP:0000006	Autosomal dominant inheritance
OMIM:601680	TNNT3	7140	HP:0001376	Limitation of joint mobility
OMIM:601680	TNNT3	7140	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:601680	TNNT3	7140	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601680	TNNT3	7140	HP:0000598	Abnormality of the ear
OMIM:601680	TNNT3	7140	HP:0001181	Adducted thumb
OMIM:601680	TNNT3	7140	HP:0000347	Micrognathia
OMIM:601680	TNNT3	7140	HP:0100490	Camptodactyly of finger
OMIM:601680	TNNT3	7140	HP:0009465	Ulnar deviation of finger
OMIM:601680	TNNT3	7140	HP:0000174	Abnormality of the palate
OMIM:601680	TNNT3	7140	HP:0002650	Scoliosis
OMIM:601680	TNNT3	7140	HP:0004322	Short stature
OMIM:601680	TNNT3	7140	HP:0000218	High palate
OMIM:601680	TNNT3	7140	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:601680	TNNT3	7140	HP:0003422	Vertebral segmentation defect
OMIM:601680	TNNT3	7140	HP:0008368	Tarsal synostosis
OMIM:601680	TNNT3	7140	HP:0001840	Metatarsus adductus
OMIM:601680	TNNT3	7140	HP:0000470	Short neck
OMIM:601680	TNNT3	7140	HP:0000954	Single transverse palmar crease
OMIM:601680	TNNT3	7140	HP:0005105	Abnormal nasal morphology
OMIM:601680	TNNT3	7140	HP:0000494	Downslanted palpebral fissures
OMIM:601680	TNNT3	7140	HP:0000303	Mandibular prognathia
OMIM:601680	TNNT3	7140	HP:0000275	Narrow face
OMIM:601680	TNNT3	7140	HP:0006109	Absent phalangeal crease
OMIM:601680	TNNT3	7140	HP:0000325	Triangular face
OMIM:601680	TNNT3	7140	HP:0000465	Webbed neck
OMIM:601680	TNNT3	7140	HP:0001762	Talipes equinovarus
OMIM:601680	TNNT3	7140	HP:0100830	Round ear
OMIM:601680	TNNT3	7140	HP:0003272	Abnormality of the hip bone
OMIM:601680	TNNT3	7140	HP:0000343	Long philtrum
OMIM:601680	TNNT3	7140	HP:0000431	Wide nasal bridge
OMIM:601680	MYH3	4621	HP:0000160	Narrow mouth
OMIM:601680	MYH3	4621	HP:0001838	Rocker bottom foot
OMIM:601680	MYH3	4621	HP:0000006	Autosomal dominant inheritance
OMIM:601680	MYH3	4621	HP:0001376	Limitation of joint mobility
OMIM:601680	MYH3	4621	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:601680	MYH3	4621	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601680	MYH3	4621	HP:0000598	Abnormality of the ear
OMIM:601680	MYH3	4621	HP:0001181	Adducted thumb
OMIM:601680	MYH3	4621	HP:0000347	Micrognathia
OMIM:601680	MYH3	4621	HP:0100490	Camptodactyly of finger
OMIM:601680	MYH3	4621	HP:0009465	Ulnar deviation of finger
OMIM:601680	MYH3	4621	HP:0000174	Abnormality of the palate
OMIM:601680	MYH3	4621	HP:0002650	Scoliosis
OMIM:601680	MYH3	4621	HP:0004322	Short stature
OMIM:601680	MYH3	4621	HP:0000218	High palate
OMIM:601680	MYH3	4621	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:601680	MYH3	4621	HP:0003422	Vertebral segmentation defect
OMIM:601680	MYH3	4621	HP:0008368	Tarsal synostosis
OMIM:601680	MYH3	4621	HP:0001840	Metatarsus adductus
OMIM:601680	MYH3	4621	HP:0000470	Short neck
OMIM:601680	MYH3	4621	HP:0000954	Single transverse palmar crease
OMIM:601680	MYH3	4621	HP:0005105	Abnormal nasal morphology
OMIM:601680	MYH3	4621	HP:0000494	Downslanted palpebral fissures
OMIM:601680	MYH3	4621	HP:0000303	Mandibular prognathia
OMIM:601680	MYH3	4621	HP:0000275	Narrow face
OMIM:601680	MYH3	4621	HP:0006109	Absent phalangeal crease
OMIM:601680	MYH3	4621	HP:0000325	Triangular face
OMIM:601680	MYH3	4621	HP:0000465	Webbed neck
OMIM:601680	MYH3	4621	HP:0001762	Talipes equinovarus
OMIM:601680	MYH3	4621	HP:0100830	Round ear
OMIM:601680	MYH3	4621	HP:0003272	Abnormality of the hip bone
OMIM:601680	MYH3	4621	HP:0000343	Long philtrum
OMIM:601680	MYH3	4621	HP:0000431	Wide nasal bridge
OMIM:606764	PDGFRA	5156	HP:0000988	Skin rash
OMIM:606764	PDGFRA	5156	HP:0002239	Gastrointestinal hemorrhage
OMIM:606764	PDGFRA	5156	HP:0001903	Anemia
OMIM:606764	PDGFRA	5156	HP:0001392	Abnormality of the liver
OMIM:606764	PDGFRA	5156	HP:0000006	Autosomal dominant inheritance
OMIM:606764	PDGFRA	5156	HP:0000953	Hyperpigmentation of the skin
OMIM:606764	PDGFRA	5156	HP:0001025	Urticaria
OMIM:606764	PDGFRA	5156	HP:0001067	Neurofibromas
OMIM:606764	PDGFRA	5156	HP:0001176	Large hands
OMIM:606764	PDGFRA	5156	HP:0100833	Neoplasm of the small intestine
OMIM:606764	PDGFRA	5156	HP:0002017	Nausea and vomiting
OMIM:606764	PDGFRA	5156	HP:0100723	Gastrointestinal stroma tumor
OMIM:606764	PDGFRA	5156	HP:0100273	Neoplasm of the colon
OMIM:606764	PDGFRA	5156	HP:0002019	Constipation
OMIM:606764	PDGFRA	5156	HP:0005214	Intestinal obstruction
OMIM:606764	PDGFRA	5156	HP:0006753	Neoplasm of the stomach
OMIM:606764	PDGFRA	5156	HP:0100743	Neoplasm of the rectum
OMIM:606764	PDGFRA	5156	HP:0100751	Esophageal neoplasm
OMIM:606764	PDGFRA	5156	HP:0007400	Irregular hyperpigmentation
OMIM:606764	PDGFRA	5156	HP:0003745	Sporadic
OMIM:606764	PDGFRA	5156	HP:0008872	Feeding difficulties in infancy
OMIM:606764	PDGFRA	5156	HP:0100242	Sarcoma
OMIM:606764	PDGFRA	5156	HP:0002015	Dysphagia
OMIM:606764	SDHA	6389	HP:0000988	Skin rash
OMIM:606764	SDHA	6389	HP:0002239	Gastrointestinal hemorrhage
OMIM:606764	SDHA	6389	HP:0001903	Anemia
OMIM:606764	SDHA	6389	HP:0001392	Abnormality of the liver
OMIM:606764	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:606764	SDHA	6389	HP:0000953	Hyperpigmentation of the skin
OMIM:606764	SDHA	6389	HP:0001025	Urticaria
OMIM:606764	SDHA	6389	HP:0001067	Neurofibromas
OMIM:606764	SDHA	6389	HP:0001176	Large hands
OMIM:606764	SDHA	6389	HP:0100833	Neoplasm of the small intestine
OMIM:606764	SDHA	6389	HP:0002017	Nausea and vomiting
OMIM:606764	SDHA	6389	HP:0100723	Gastrointestinal stroma tumor
OMIM:606764	SDHA	6389	HP:0100273	Neoplasm of the colon
OMIM:606764	SDHA	6389	HP:0002019	Constipation
OMIM:606764	SDHA	6389	HP:0005214	Intestinal obstruction
OMIM:606764	SDHA	6389	HP:0006753	Neoplasm of the stomach
OMIM:606764	SDHA	6389	HP:0100743	Neoplasm of the rectum
OMIM:606764	SDHA	6389	HP:0100751	Esophageal neoplasm
OMIM:606764	SDHA	6389	HP:0007400	Irregular hyperpigmentation
OMIM:606764	SDHA	6389	HP:0003745	Sporadic
OMIM:606764	SDHA	6389	HP:0008872	Feeding difficulties in infancy
OMIM:606764	SDHA	6389	HP:0100242	Sarcoma
OMIM:606764	SDHA	6389	HP:0002015	Dysphagia
OMIM:606764	SDHB	6390	HP:0000988	Skin rash
OMIM:606764	SDHB	6390	HP:0002239	Gastrointestinal hemorrhage
OMIM:606764	SDHB	6390	HP:0001903	Anemia
OMIM:606764	SDHB	6390	HP:0001392	Abnormality of the liver
OMIM:606764	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:606764	SDHB	6390	HP:0000953	Hyperpigmentation of the skin
OMIM:606764	SDHB	6390	HP:0001025	Urticaria
OMIM:606764	SDHB	6390	HP:0001067	Neurofibromas
OMIM:606764	SDHB	6390	HP:0001176	Large hands
OMIM:606764	SDHB	6390	HP:0100833	Neoplasm of the small intestine
OMIM:606764	SDHB	6390	HP:0002017	Nausea and vomiting
OMIM:606764	SDHB	6390	HP:0100723	Gastrointestinal stroma tumor
OMIM:606764	SDHB	6390	HP:0100273	Neoplasm of the colon
OMIM:606764	SDHB	6390	HP:0002019	Constipation
OMIM:606764	SDHB	6390	HP:0005214	Intestinal obstruction
OMIM:606764	SDHB	6390	HP:0006753	Neoplasm of the stomach
OMIM:606764	SDHB	6390	HP:0100743	Neoplasm of the rectum
OMIM:606764	SDHB	6390	HP:0100751	Esophageal neoplasm
OMIM:606764	SDHB	6390	HP:0007400	Irregular hyperpigmentation
OMIM:606764	SDHB	6390	HP:0003745	Sporadic
OMIM:606764	SDHB	6390	HP:0008872	Feeding difficulties in infancy
OMIM:606764	SDHB	6390	HP:0100242	Sarcoma
OMIM:606764	SDHB	6390	HP:0002015	Dysphagia
OMIM:606764	SDHC	6391	HP:0000988	Skin rash
OMIM:606764	SDHC	6391	HP:0002239	Gastrointestinal hemorrhage
OMIM:606764	SDHC	6391	HP:0001903	Anemia
OMIM:606764	SDHC	6391	HP:0001392	Abnormality of the liver
OMIM:606764	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:606764	SDHC	6391	HP:0000953	Hyperpigmentation of the skin
OMIM:606764	SDHC	6391	HP:0001025	Urticaria
OMIM:606764	SDHC	6391	HP:0001067	Neurofibromas
OMIM:606764	SDHC	6391	HP:0001176	Large hands
OMIM:606764	SDHC	6391	HP:0100833	Neoplasm of the small intestine
OMIM:606764	SDHC	6391	HP:0002017	Nausea and vomiting
OMIM:606764	SDHC	6391	HP:0100723	Gastrointestinal stroma tumor
OMIM:606764	SDHC	6391	HP:0100273	Neoplasm of the colon
OMIM:606764	SDHC	6391	HP:0002019	Constipation
OMIM:606764	SDHC	6391	HP:0005214	Intestinal obstruction
OMIM:606764	SDHC	6391	HP:0006753	Neoplasm of the stomach
OMIM:606764	SDHC	6391	HP:0100743	Neoplasm of the rectum
OMIM:606764	SDHC	6391	HP:0100751	Esophageal neoplasm
OMIM:606764	SDHC	6391	HP:0007400	Irregular hyperpigmentation
OMIM:606764	SDHC	6391	HP:0003745	Sporadic
OMIM:606764	SDHC	6391	HP:0008872	Feeding difficulties in infancy
OMIM:606764	SDHC	6391	HP:0100242	Sarcoma
OMIM:606764	SDHC	6391	HP:0002015	Dysphagia
OMIM:606764	KIT	3815	HP:0000988	Skin rash
OMIM:606764	KIT	3815	HP:0002239	Gastrointestinal hemorrhage
OMIM:606764	KIT	3815	HP:0001903	Anemia
OMIM:606764	KIT	3815	HP:0001392	Abnormality of the liver
OMIM:606764	KIT	3815	HP:0000006	Autosomal dominant inheritance
OMIM:606764	KIT	3815	HP:0000953	Hyperpigmentation of the skin
OMIM:606764	KIT	3815	HP:0001025	Urticaria
OMIM:606764	KIT	3815	HP:0001067	Neurofibromas
OMIM:606764	KIT	3815	HP:0001176	Large hands
OMIM:606764	KIT	3815	HP:0100833	Neoplasm of the small intestine
OMIM:606764	KIT	3815	HP:0002017	Nausea and vomiting
OMIM:606764	KIT	3815	HP:0100723	Gastrointestinal stroma tumor
OMIM:606764	KIT	3815	HP:0100273	Neoplasm of the colon
OMIM:606764	KIT	3815	HP:0002019	Constipation
OMIM:606764	KIT	3815	HP:0005214	Intestinal obstruction
OMIM:606764	KIT	3815	HP:0006753	Neoplasm of the stomach
OMIM:606764	KIT	3815	HP:0100743	Neoplasm of the rectum
OMIM:606764	KIT	3815	HP:0100751	Esophageal neoplasm
OMIM:606764	KIT	3815	HP:0007400	Irregular hyperpigmentation
OMIM:606764	KIT	3815	HP:0003745	Sporadic
OMIM:606764	KIT	3815	HP:0008872	Feeding difficulties in infancy
OMIM:606764	KIT	3815	HP:0100242	Sarcoma
OMIM:606764	KIT	3815	HP:0002015	Dysphagia
OMIM:311070	PRPS1	5631	HP:0002460	Distal muscle weakness
OMIM:311070	PRPS1	5631	HP:0002650	Scoliosis
OMIM:311070	PRPS1	5631	HP:0004372	Reduced consciousness/confusion
OMIM:311070	PRPS1	5631	HP:0001315	Reduced tendon reflexes
OMIM:311070	PRPS1	5631	HP:0001288	Gait disturbance
OMIM:311070	PRPS1	5631	HP:0000365	Hearing impairment
OMIM:311070	PRPS1	5631	HP:0004374	Hemiplegia/hemiparesis
OMIM:311070	PRPS1	5631	HP:0003383	Onion bulb formation
OMIM:311070	PRPS1	5631	HP:0000648	Optic atrophy
OMIM:311070	PRPS1	5631	HP:0011463	Childhood onset
OMIM:311070	PRPS1	5631	HP:0003693	Distal amyotrophy
OMIM:311070	PRPS1	5631	HP:0000762	Decreased nerve conduction velocity
OMIM:311070	PRPS1	5631	HP:0001337	Tremor
OMIM:311070	PRPS1	5631	HP:0002808	Kyphosis
OMIM:311070	PRPS1	5631	HP:0000407	Sensorineural hearing impairment
OMIM:311070	PRPS1	5631	HP:0001761	Pes cavus
OMIM:311070	PRPS1	5631	HP:0002167	Neurological speech impairment
OMIM:311070	PRPS1	5631	HP:0007328	Impaired pain sensation
OMIM:311070	PRPS1	5631	HP:0000529	Progressive visual loss
OMIM:311070	PRPS1	5631	HP:0002311	Incoordination
OMIM:311070	PRPS1	5631	HP:0002936	Distal sensory impairment
OMIM:311070	PRPS1	5631	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:311070	PRPS1	5631	HP:0001270	Motor delay
OMIM:311070	PRPS1	5631	HP:0001419	X-linked recessive inheritance
OMIM:425000	CSF2RA	1438	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:608837	MYH8	4626	HP:0000006	Autosomal dominant inheritance
OMIM:615978	IFNGR1	3459	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:615978	IFNGR1	3459	HP:0011274	Recurrent mycobacterial infections
OMIM:615978	IFNGR1	3459	HP:0000006	Autosomal dominant inheritance
OMIM:212066	MGAT2	4247	HP:0000232	Everted lower lip vermilion
OMIM:212066	MGAT2	4247	HP:0000252	Microcephaly
OMIM:212066	MGAT2	4247	HP:0000767	Pectus excavatum
OMIM:212066	MGAT2	4247	HP:0000733	Stereotypic behavior
OMIM:212066	MGAT2	4247	HP:0001007	Hirsutism
OMIM:212066	MGAT2	4247	HP:0002317	Unsteady gait
OMIM:212066	MGAT2	4247	HP:0000194	Open mouth
OMIM:212066	MGAT2	4247	HP:0000400	Macrotia
OMIM:212066	MGAT2	4247	HP:0001508	Failure to thrive
OMIM:212066	MGAT2	4247	HP:0001572	Macrodontia
OMIM:212066	MGAT2	4247	HP:0000470	Short neck
OMIM:212066	MGAT2	4247	HP:0000007	Autosomal recessive inheritance
OMIM:212066	MGAT2	4247	HP:0000574	Thick eyebrow
OMIM:212066	MGAT2	4247	HP:0008897	Postnatal growth retardation
OMIM:212066	MGAT2	4247	HP:0000098	Tall stature
OMIM:212066	MGAT2	4247	HP:0010864	Intellectual disability, severe
OMIM:212066	MGAT2	4247	HP:0000358	Posteriorly rotated ears
OMIM:212066	MGAT2	4247	HP:0000718	Aggressive behavior
OMIM:212066	MGAT2	4247	HP:0004841	Reduced factor XII activity
OMIM:212066	MGAT2	4247	HP:0000278	Retrognathia
OMIM:212066	MGAT2	4247	HP:0000426	Prominent nasal bridge
OMIM:212066	MGAT2	4247	HP:0000248	Brachycephaly
OMIM:212066	MGAT2	4247	HP:0000527	Long eyelashes
OMIM:212066	MGAT2	4247	HP:0004322	Short stature
OMIM:212066	MGAT2	4247	HP:0003100	Slender long bone
OMIM:212066	MGAT2	4247	HP:0000154	Wide mouth
OMIM:212066	MGAT2	4247	HP:0000494	Downslanted palpebral fissures
OMIM:212066	MGAT2	4247	HP:0000233	Thin vermilion border
OMIM:212066	MGAT2	4247	HP:0009623	Proximal placement of thumb
OMIM:212066	MGAT2	4247	HP:0001547	Abnormality of the rib cage
OMIM:212066	MGAT2	4247	HP:0000407	Sensorineural hearing impairment
OMIM:212066	MGAT2	4247	HP:0001250	Seizures
OMIM:212066	MGAT2	4247	HP:0001629	Ventricular septal defect
OMIM:212066	MGAT2	4247	HP:0000212	Gingival overgrowth
OMIM:212066	MGAT2	4247	HP:0100543	Cognitive impairment
OMIM:212066	MGAT2	4247	HP:0000938	Osteopenia
OMIM:212066	MGAT2	4247	HP:0000256	Macrocephaly
OMIM:212066	MGAT2	4247	HP:0000742	Self-mutilation
OMIM:212066	MGAT2	4247	HP:0001290	Generalized hypotonia
OMIM:212066	MGAT2	4247	HP:0001763	Pes planus
OMIM:212066	MGAT2	4247	HP:0002673	Coxa valga
OMIM:212066	MGAT2	4247	HP:0010808	Protruding tongue
OMIM:212066	MGAT2	4247	HP:0006887	Intellectual disability, progressive
OMIM:212066	MGAT2	4247	HP:0008070	Sparse hair
OMIM:600649	CPT2	1376	HP:0001254	Lethargy
OMIM:600649	CPT2	1376	HP:0003198	Myopathy
OMIM:600649	CPT2	1376	HP:0002240	Hepatomegaly
OMIM:600649	CPT2	1376	HP:0001250	Seizures
OMIM:600649	CPT2	1376	HP:0001644	Dilated cardiomyopathy
OMIM:600649	CPT2	1376	HP:0003236	Elevated serum creatine phosphokinase
OMIM:600649	CPT2	1376	HP:0003593	Infantile onset
OMIM:600649	CPT2	1376	HP:0011675	Arrhythmia
OMIM:600649	CPT2	1376	HP:0002013	Vomiting
OMIM:600649	CPT2	1376	HP:0001639	Hypertrophic cardiomyopathy
OMIM:600649	CPT2	1376	HP:0000007	Autosomal recessive inheritance
OMIM:600649	CPT2	1376	HP:0001640	Cardiomegaly
OMIM:600649	CPT2	1376	HP:0001943	Hypoglycemia
OMIM:600649	CPT2	1376	HP:0001399	Hepatic failure
OMIM:600649	CPT2	1376	HP:0001987	Hyperammonemia
OMIM:600649	CPT2	1376	HP:0002017	Nausea and vomiting
OMIM:600649	CPT2	1376	HP:0002910	Elevated hepatic transaminases
OMIM:300770	CSF2RA	1438	HP:0001417	X-linked inheritance
OMIM:300770	CSF2RA	1438	HP:0002789	Tachypnea
OMIM:300770	CSF2RA	1438	HP:0002091	Restrictive lung disease
OMIM:300770	CSF2RB	1439	HP:0001417	X-linked inheritance
OMIM:300770	CSF2RB	1439	HP:0002789	Tachypnea
OMIM:300770	CSF2RB	1439	HP:0002091	Restrictive lung disease
OMIM:113750	SLC24A5	283652	HP:0000639	Nystagmus
OMIM:113750	SLC24A5	283652	HP:0001595	Abnormality of the hair
OMIM:113750	SLC24A5	283652	HP:0007663	Reduced visual acuity
OMIM:113750	SLC24A5	283652	HP:0000613	Photophobia
OMIM:113750	SLC24A5	283652	HP:0000006	Autosomal dominant inheritance
OMIM:113750	SLC24A5	283652	HP:0000007	Autosomal recessive inheritance
OMIM:113750	SLC24A5	283652	HP:0000505	Visual impairment
ORPHANET:758	ABCC6	368	HP:0001928	Abnormality of coagulation
ORPHANET:758	ABCC6	368	HP:0000174	Abnormality of the palate
ORPHANET:758	ABCC6	368	HP:0002514	Cerebral calcification
ORPHANET:758	ABCC6	368	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:758	ABCC6	368	HP:0001633	Abnormality of the mitral valve
ORPHANET:758	ABCC6	368	HP:0001645	Sudden cardiac death
ORPHANET:758	ABCC6	368	HP:0000978	Bruising susceptibility
ORPHANET:758	ABCC6	368	HP:0000592	Blue sclerae
ORPHANET:758	ABCC6	368	HP:0001065	Striae distensae
ORPHANET:758	ABCC6	368	HP:0000532	Chorioretinal abnormality
ORPHANET:758	ABCC6	368	HP:0000974	Hyperextensible skin
ORPHANET:758	ABCC6	368	HP:0002617	Aneurysm
ORPHANET:758	ABCC6	368	HP:0000934	Chondrocalcinosis
ORPHANET:758	ABCC6	368	HP:0000121	Nephrocalcinosis
ORPHANET:758	ABCC6	368	HP:0000765	Abnormality of the thorax
ORPHANET:758	ABCC6	368	HP:0001872	Abnormality of thrombocytes
ORPHANET:758	ABCC6	368	HP:0000505	Visual impairment
ORPHANET:758	ABCC6	368	HP:0000988	Skin rash
ORPHANET:758	ABCC6	368	HP:0002170	Intracranial hemorrhage
ORPHANET:758	ABCC6	368	HP:0000821	Hypothyroidism
ORPHANET:758	ABCC6	368	HP:0100585	Telangiectasia of the skin
ORPHANET:758	ABCC6	368	HP:0000822	Hypertension
ORPHANET:758	ABCC6	368	HP:0001677	Coronary artery disease
ORPHANET:758	ABCC6	368	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:758	ABCC6	368	HP:0002650	Scoliosis
ORPHANET:758	ABCC6	368	HP:0004306	Abnormality of the endocardium
ORPHANET:758	ABCC6	368	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:758	ABCC6	368	HP:0000989	Pruritus
ORPHANET:758	ABCC6	368	HP:0001382	Joint hypermobility
ORPHANET:758	ABCC6	368	HP:0000474	Thickened nuchal skin fold
ORPHANET:758	ABCC6	368	HP:0000545	Myopia
ORPHANET:758	ABCC6	368	HP:0000488	Retinopathy
ORPHANET:758	ABCC6	368	HP:0001061	Acne
ORPHANET:758	ENPP1	5167	HP:0001928	Abnormality of coagulation
ORPHANET:758	ENPP1	5167	HP:0000174	Abnormality of the palate
ORPHANET:758	ENPP1	5167	HP:0002514	Cerebral calcification
ORPHANET:758	ENPP1	5167	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:758	ENPP1	5167	HP:0001633	Abnormality of the mitral valve
ORPHANET:758	ENPP1	5167	HP:0001645	Sudden cardiac death
ORPHANET:758	ENPP1	5167	HP:0000978	Bruising susceptibility
ORPHANET:758	ENPP1	5167	HP:0000592	Blue sclerae
ORPHANET:758	ENPP1	5167	HP:0001065	Striae distensae
ORPHANET:758	ENPP1	5167	HP:0000532	Chorioretinal abnormality
ORPHANET:758	ENPP1	5167	HP:0000974	Hyperextensible skin
ORPHANET:758	ENPP1	5167	HP:0002617	Aneurysm
ORPHANET:758	ENPP1	5167	HP:0000934	Chondrocalcinosis
ORPHANET:758	ENPP1	5167	HP:0000121	Nephrocalcinosis
ORPHANET:758	ENPP1	5167	HP:0000765	Abnormality of the thorax
ORPHANET:758	ENPP1	5167	HP:0001872	Abnormality of thrombocytes
ORPHANET:758	ENPP1	5167	HP:0000505	Visual impairment
ORPHANET:758	ENPP1	5167	HP:0000988	Skin rash
ORPHANET:758	ENPP1	5167	HP:0002170	Intracranial hemorrhage
ORPHANET:758	ENPP1	5167	HP:0000821	Hypothyroidism
ORPHANET:758	ENPP1	5167	HP:0100585	Telangiectasia of the skin
ORPHANET:758	ENPP1	5167	HP:0000822	Hypertension
ORPHANET:758	ENPP1	5167	HP:0001677	Coronary artery disease
ORPHANET:758	ENPP1	5167	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:758	ENPP1	5167	HP:0002650	Scoliosis
ORPHANET:758	ENPP1	5167	HP:0004306	Abnormality of the endocardium
ORPHANET:758	ENPP1	5167	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:758	ENPP1	5167	HP:0000989	Pruritus
ORPHANET:758	ENPP1	5167	HP:0001382	Joint hypermobility
ORPHANET:758	ENPP1	5167	HP:0000474	Thickened nuchal skin fold
ORPHANET:758	ENPP1	5167	HP:0000545	Myopia
ORPHANET:758	ENPP1	5167	HP:0000488	Retinopathy
ORPHANET:758	ENPP1	5167	HP:0001061	Acne
OMIM:615355	RIT1	6016	HP:0000508	Ptosis
OMIM:615355	RIT1	6016	HP:0004322	Short stature
OMIM:615355	RIT1	6016	HP:0000316	Hypertelorism
OMIM:615355	RIT1	6016	HP:0000470	Short neck
OMIM:615355	RIT1	6016	HP:0000494	Downslanted palpebral fissures
OMIM:615355	RIT1	6016	HP:0000962	Hyperkeratosis
OMIM:615355	RIT1	6016	HP:0000006	Autosomal dominant inheritance
OMIM:615355	RIT1	6016	HP:0000028	Cryptorchidism
OMIM:615355	RIT1	6016	HP:0001629	Ventricular septal defect
OMIM:615355	RIT1	6016	HP:0001561	Polyhydramnios
OMIM:615355	RIT1	6016	HP:0000286	Epicanthus
OMIM:615355	RIT1	6016	HP:0000465	Webbed neck
OMIM:615355	RIT1	6016	HP:0000369	Low-set ears
OMIM:615355	RIT1	6016	HP:0000974	Hyperextensible skin
OMIM:615355	RIT1	6016	HP:0001249	Intellectual disability
OMIM:615355	RIT1	6016	HP:0001642	Pulmonic stenosis
OMIM:615355	RIT1	6016	HP:0004482	Relative macrocephaly
OMIM:615355	RIT1	6016	HP:0001508	Failure to thrive
OMIM:615355	RIT1	6016	HP:0001631	Atria septal defect
OMIM:615355	RIT1	6016	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	RIT1	6016	HP:0002212	Curly hair
OMIM:615355	BRAF	673	HP:0000508	Ptosis
OMIM:615355	BRAF	673	HP:0004322	Short stature
OMIM:615355	BRAF	673	HP:0000316	Hypertelorism
OMIM:615355	BRAF	673	HP:0000470	Short neck
OMIM:615355	BRAF	673	HP:0000494	Downslanted palpebral fissures
OMIM:615355	BRAF	673	HP:0000962	Hyperkeratosis
OMIM:615355	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:615355	BRAF	673	HP:0000028	Cryptorchidism
OMIM:615355	BRAF	673	HP:0001629	Ventricular septal defect
OMIM:615355	BRAF	673	HP:0001561	Polyhydramnios
OMIM:615355	BRAF	673	HP:0000286	Epicanthus
OMIM:615355	BRAF	673	HP:0000465	Webbed neck
OMIM:615355	BRAF	673	HP:0000369	Low-set ears
OMIM:615355	BRAF	673	HP:0000974	Hyperextensible skin
OMIM:615355	BRAF	673	HP:0001249	Intellectual disability
OMIM:615355	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:615355	BRAF	673	HP:0004482	Relative macrocephaly
OMIM:615355	BRAF	673	HP:0001508	Failure to thrive
OMIM:615355	BRAF	673	HP:0001631	Atria septal defect
OMIM:615355	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	BRAF	673	HP:0002212	Curly hair
OMIM:615355	KAT6B	23522	HP:0000508	Ptosis
OMIM:615355	KAT6B	23522	HP:0004322	Short stature
OMIM:615355	KAT6B	23522	HP:0000316	Hypertelorism
OMIM:615355	KAT6B	23522	HP:0000470	Short neck
OMIM:615355	KAT6B	23522	HP:0000494	Downslanted palpebral fissures
OMIM:615355	KAT6B	23522	HP:0000962	Hyperkeratosis
OMIM:615355	KAT6B	23522	HP:0000006	Autosomal dominant inheritance
OMIM:615355	KAT6B	23522	HP:0000028	Cryptorchidism
OMIM:615355	KAT6B	23522	HP:0001629	Ventricular septal defect
OMIM:615355	KAT6B	23522	HP:0001561	Polyhydramnios
OMIM:615355	KAT6B	23522	HP:0000286	Epicanthus
OMIM:615355	KAT6B	23522	HP:0000465	Webbed neck
OMIM:615355	KAT6B	23522	HP:0000369	Low-set ears
OMIM:615355	KAT6B	23522	HP:0000974	Hyperextensible skin
OMIM:615355	KAT6B	23522	HP:0001249	Intellectual disability
OMIM:615355	KAT6B	23522	HP:0001642	Pulmonic stenosis
OMIM:615355	KAT6B	23522	HP:0004482	Relative macrocephaly
OMIM:615355	KAT6B	23522	HP:0001508	Failure to thrive
OMIM:615355	KAT6B	23522	HP:0001631	Atria septal defect
OMIM:615355	KAT6B	23522	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	KAT6B	23522	HP:0002212	Curly hair
OMIM:615355	RASA2	5922	HP:0000508	Ptosis
OMIM:615355	RASA2	5922	HP:0004322	Short stature
OMIM:615355	RASA2	5922	HP:0000316	Hypertelorism
OMIM:615355	RASA2	5922	HP:0000470	Short neck
OMIM:615355	RASA2	5922	HP:0000494	Downslanted palpebral fissures
OMIM:615355	RASA2	5922	HP:0000962	Hyperkeratosis
OMIM:615355	RASA2	5922	HP:0000006	Autosomal dominant inheritance
OMIM:615355	RASA2	5922	HP:0000028	Cryptorchidism
OMIM:615355	RASA2	5922	HP:0001629	Ventricular septal defect
OMIM:615355	RASA2	5922	HP:0001561	Polyhydramnios
OMIM:615355	RASA2	5922	HP:0000286	Epicanthus
OMIM:615355	RASA2	5922	HP:0000465	Webbed neck
OMIM:615355	RASA2	5922	HP:0000369	Low-set ears
OMIM:615355	RASA2	5922	HP:0000974	Hyperextensible skin
OMIM:615355	RASA2	5922	HP:0001249	Intellectual disability
OMIM:615355	RASA2	5922	HP:0001642	Pulmonic stenosis
OMIM:615355	RASA2	5922	HP:0004482	Relative macrocephaly
OMIM:615355	RASA2	5922	HP:0001508	Failure to thrive
OMIM:615355	RASA2	5922	HP:0001631	Atria septal defect
OMIM:615355	RASA2	5922	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	RASA2	5922	HP:0002212	Curly hair
OMIM:615355	PTPN11	5781	HP:0000508	Ptosis
OMIM:615355	PTPN11	5781	HP:0004322	Short stature
OMIM:615355	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:615355	PTPN11	5781	HP:0000470	Short neck
OMIM:615355	PTPN11	5781	HP:0000494	Downslanted palpebral fissures
OMIM:615355	PTPN11	5781	HP:0000962	Hyperkeratosis
OMIM:615355	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:615355	PTPN11	5781	HP:0000028	Cryptorchidism
OMIM:615355	PTPN11	5781	HP:0001629	Ventricular septal defect
OMIM:615355	PTPN11	5781	HP:0001561	Polyhydramnios
OMIM:615355	PTPN11	5781	HP:0000286	Epicanthus
OMIM:615355	PTPN11	5781	HP:0000465	Webbed neck
OMIM:615355	PTPN11	5781	HP:0000369	Low-set ears
OMIM:615355	PTPN11	5781	HP:0000974	Hyperextensible skin
OMIM:615355	PTPN11	5781	HP:0001249	Intellectual disability
OMIM:615355	PTPN11	5781	HP:0001642	Pulmonic stenosis
OMIM:615355	PTPN11	5781	HP:0004482	Relative macrocephaly
OMIM:615355	PTPN11	5781	HP:0001508	Failure to thrive
OMIM:615355	PTPN11	5781	HP:0001631	Atria septal defect
OMIM:615355	PTPN11	5781	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	PTPN11	5781	HP:0002212	Curly hair
OMIM:615355	KRAS	3845	HP:0000508	Ptosis
OMIM:615355	KRAS	3845	HP:0004322	Short stature
OMIM:615355	KRAS	3845	HP:0000316	Hypertelorism
OMIM:615355	KRAS	3845	HP:0000470	Short neck
OMIM:615355	KRAS	3845	HP:0000494	Downslanted palpebral fissures
OMIM:615355	KRAS	3845	HP:0000962	Hyperkeratosis
OMIM:615355	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:615355	KRAS	3845	HP:0000028	Cryptorchidism
OMIM:615355	KRAS	3845	HP:0001629	Ventricular septal defect
OMIM:615355	KRAS	3845	HP:0001561	Polyhydramnios
OMIM:615355	KRAS	3845	HP:0000286	Epicanthus
OMIM:615355	KRAS	3845	HP:0000465	Webbed neck
OMIM:615355	KRAS	3845	HP:0000369	Low-set ears
OMIM:615355	KRAS	3845	HP:0000974	Hyperextensible skin
OMIM:615355	KRAS	3845	HP:0001249	Intellectual disability
OMIM:615355	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:615355	KRAS	3845	HP:0004482	Relative macrocephaly
OMIM:615355	KRAS	3845	HP:0001508	Failure to thrive
OMIM:615355	KRAS	3845	HP:0001631	Atria septal defect
OMIM:615355	KRAS	3845	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	KRAS	3845	HP:0002212	Curly hair
OMIM:615355	RAF1	5894	HP:0000508	Ptosis
OMIM:615355	RAF1	5894	HP:0004322	Short stature
OMIM:615355	RAF1	5894	HP:0000316	Hypertelorism
OMIM:615355	RAF1	5894	HP:0000470	Short neck
OMIM:615355	RAF1	5894	HP:0000494	Downslanted palpebral fissures
OMIM:615355	RAF1	5894	HP:0000962	Hyperkeratosis
OMIM:615355	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:615355	RAF1	5894	HP:0000028	Cryptorchidism
OMIM:615355	RAF1	5894	HP:0001629	Ventricular septal defect
OMIM:615355	RAF1	5894	HP:0001561	Polyhydramnios
OMIM:615355	RAF1	5894	HP:0000286	Epicanthus
OMIM:615355	RAF1	5894	HP:0000465	Webbed neck
OMIM:615355	RAF1	5894	HP:0000369	Low-set ears
OMIM:615355	RAF1	5894	HP:0000974	Hyperextensible skin
OMIM:615355	RAF1	5894	HP:0001249	Intellectual disability
OMIM:615355	RAF1	5894	HP:0001642	Pulmonic stenosis
OMIM:615355	RAF1	5894	HP:0004482	Relative macrocephaly
OMIM:615355	RAF1	5894	HP:0001508	Failure to thrive
OMIM:615355	RAF1	5894	HP:0001631	Atria septal defect
OMIM:615355	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	RAF1	5894	HP:0002212	Curly hair
OMIM:615355	LZTR1	8216	HP:0000508	Ptosis
OMIM:615355	LZTR1	8216	HP:0004322	Short stature
OMIM:615355	LZTR1	8216	HP:0000316	Hypertelorism
OMIM:615355	LZTR1	8216	HP:0000470	Short neck
OMIM:615355	LZTR1	8216	HP:0000494	Downslanted palpebral fissures
OMIM:615355	LZTR1	8216	HP:0000962	Hyperkeratosis
OMIM:615355	LZTR1	8216	HP:0000006	Autosomal dominant inheritance
OMIM:615355	LZTR1	8216	HP:0000028	Cryptorchidism
OMIM:615355	LZTR1	8216	HP:0001629	Ventricular septal defect
OMIM:615355	LZTR1	8216	HP:0001561	Polyhydramnios
OMIM:615355	LZTR1	8216	HP:0000286	Epicanthus
OMIM:615355	LZTR1	8216	HP:0000465	Webbed neck
OMIM:615355	LZTR1	8216	HP:0000369	Low-set ears
OMIM:615355	LZTR1	8216	HP:0000974	Hyperextensible skin
OMIM:615355	LZTR1	8216	HP:0001249	Intellectual disability
OMIM:615355	LZTR1	8216	HP:0001642	Pulmonic stenosis
OMIM:615355	LZTR1	8216	HP:0004482	Relative macrocephaly
OMIM:615355	LZTR1	8216	HP:0001508	Failure to thrive
OMIM:615355	LZTR1	8216	HP:0001631	Atria septal defect
OMIM:615355	LZTR1	8216	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	LZTR1	8216	HP:0002212	Curly hair
OMIM:615355	A2ML1	144568	HP:0000508	Ptosis
OMIM:615355	A2ML1	144568	HP:0004322	Short stature
OMIM:615355	A2ML1	144568	HP:0000316	Hypertelorism
OMIM:615355	A2ML1	144568	HP:0000470	Short neck
OMIM:615355	A2ML1	144568	HP:0000494	Downslanted palpebral fissures
OMIM:615355	A2ML1	144568	HP:0000962	Hyperkeratosis
OMIM:615355	A2ML1	144568	HP:0000006	Autosomal dominant inheritance
OMIM:615355	A2ML1	144568	HP:0000028	Cryptorchidism
OMIM:615355	A2ML1	144568	HP:0001629	Ventricular septal defect
OMIM:615355	A2ML1	144568	HP:0001561	Polyhydramnios
OMIM:615355	A2ML1	144568	HP:0000286	Epicanthus
OMIM:615355	A2ML1	144568	HP:0000465	Webbed neck
OMIM:615355	A2ML1	144568	HP:0000369	Low-set ears
OMIM:615355	A2ML1	144568	HP:0000974	Hyperextensible skin
OMIM:615355	A2ML1	144568	HP:0001249	Intellectual disability
OMIM:615355	A2ML1	144568	HP:0001642	Pulmonic stenosis
OMIM:615355	A2ML1	144568	HP:0004482	Relative macrocephaly
OMIM:615355	A2ML1	144568	HP:0001508	Failure to thrive
OMIM:615355	A2ML1	144568	HP:0001631	Atria septal defect
OMIM:615355	A2ML1	144568	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	A2ML1	144568	HP:0002212	Curly hair
OMIM:615355	NRAS	4893	HP:0000508	Ptosis
OMIM:615355	NRAS	4893	HP:0004322	Short stature
OMIM:615355	NRAS	4893	HP:0000316	Hypertelorism
OMIM:615355	NRAS	4893	HP:0000470	Short neck
OMIM:615355	NRAS	4893	HP:0000494	Downslanted palpebral fissures
OMIM:615355	NRAS	4893	HP:0000962	Hyperkeratosis
OMIM:615355	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:615355	NRAS	4893	HP:0000028	Cryptorchidism
OMIM:615355	NRAS	4893	HP:0001629	Ventricular septal defect
OMIM:615355	NRAS	4893	HP:0001561	Polyhydramnios
OMIM:615355	NRAS	4893	HP:0000286	Epicanthus
OMIM:615355	NRAS	4893	HP:0000465	Webbed neck
OMIM:615355	NRAS	4893	HP:0000369	Low-set ears
OMIM:615355	NRAS	4893	HP:0000974	Hyperextensible skin
OMIM:615355	NRAS	4893	HP:0001249	Intellectual disability
OMIM:615355	NRAS	4893	HP:0001642	Pulmonic stenosis
OMIM:615355	NRAS	4893	HP:0004482	Relative macrocephaly
OMIM:615355	NRAS	4893	HP:0001508	Failure to thrive
OMIM:615355	NRAS	4893	HP:0001631	Atria septal defect
OMIM:615355	NRAS	4893	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	NRAS	4893	HP:0002212	Curly hair
OMIM:615355	SOS1	6654	HP:0000508	Ptosis
OMIM:615355	SOS1	6654	HP:0004322	Short stature
OMIM:615355	SOS1	6654	HP:0000316	Hypertelorism
OMIM:615355	SOS1	6654	HP:0000470	Short neck
OMIM:615355	SOS1	6654	HP:0000494	Downslanted palpebral fissures
OMIM:615355	SOS1	6654	HP:0000962	Hyperkeratosis
OMIM:615355	SOS1	6654	HP:0000006	Autosomal dominant inheritance
OMIM:615355	SOS1	6654	HP:0000028	Cryptorchidism
OMIM:615355	SOS1	6654	HP:0001629	Ventricular septal defect
OMIM:615355	SOS1	6654	HP:0001561	Polyhydramnios
OMIM:615355	SOS1	6654	HP:0000286	Epicanthus
OMIM:615355	SOS1	6654	HP:0000465	Webbed neck
OMIM:615355	SOS1	6654	HP:0000369	Low-set ears
OMIM:615355	SOS1	6654	HP:0000974	Hyperextensible skin
OMIM:615355	SOS1	6654	HP:0001249	Intellectual disability
OMIM:615355	SOS1	6654	HP:0001642	Pulmonic stenosis
OMIM:615355	SOS1	6654	HP:0004482	Relative macrocephaly
OMIM:615355	SOS1	6654	HP:0001508	Failure to thrive
OMIM:615355	SOS1	6654	HP:0001631	Atria septal defect
OMIM:615355	SOS1	6654	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	SOS1	6654	HP:0002212	Curly hair
OMIM:615355	SOS2	6655	HP:0000508	Ptosis
OMIM:615355	SOS2	6655	HP:0004322	Short stature
OMIM:615355	SOS2	6655	HP:0000316	Hypertelorism
OMIM:615355	SOS2	6655	HP:0000470	Short neck
OMIM:615355	SOS2	6655	HP:0000494	Downslanted palpebral fissures
OMIM:615355	SOS2	6655	HP:0000962	Hyperkeratosis
OMIM:615355	SOS2	6655	HP:0000006	Autosomal dominant inheritance
OMIM:615355	SOS2	6655	HP:0000028	Cryptorchidism
OMIM:615355	SOS2	6655	HP:0001629	Ventricular septal defect
OMIM:615355	SOS2	6655	HP:0001561	Polyhydramnios
OMIM:615355	SOS2	6655	HP:0000286	Epicanthus
OMIM:615355	SOS2	6655	HP:0000465	Webbed neck
OMIM:615355	SOS2	6655	HP:0000369	Low-set ears
OMIM:615355	SOS2	6655	HP:0000974	Hyperextensible skin
OMIM:615355	SOS2	6655	HP:0001249	Intellectual disability
OMIM:615355	SOS2	6655	HP:0001642	Pulmonic stenosis
OMIM:615355	SOS2	6655	HP:0004482	Relative macrocephaly
OMIM:615355	SOS2	6655	HP:0001508	Failure to thrive
OMIM:615355	SOS2	6655	HP:0001631	Atria septal defect
OMIM:615355	SOS2	6655	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615355	SOS2	6655	HP:0002212	Curly hair
OMIM:610156	INPP5E	56623	HP:0002342	Intellectual disability, moderate
OMIM:610156	INPP5E	56623	HP:0000054	Micropenis
OMIM:610156	INPP5E	56623	HP:0000518	Cataract
OMIM:610156	INPP5E	56623	HP:0000556	Retinal dystrophy
OMIM:610156	INPP5E	56623	HP:0000750	Delayed speech and language development
OMIM:610156	INPP5E	56623	HP:0001956	Truncal obesity
OMIM:610156	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:610156	INPP5E	56623	HP:0000505	Visual impairment
OMIM:600155	SEMA3C	10512	HP:0002251	Aganglionic megacolon
OMIM:600155	ECE1	1889	HP:0002251	Aganglionic megacolon
OMIM:600155	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:600155	EDNRB	1910	HP:0002251	Aganglionic megacolon
OMIM:600155	NRTN	4902	HP:0002251	Aganglionic megacolon
OMIM:600155	RET	5979	HP:0002251	Aganglionic megacolon
OMIM:600155	GDNF	2668	HP:0002251	Aganglionic megacolon
OMIM:600155	SEMA3D	223117	HP:0002251	Aganglionic megacolon
OMIM:616540	LMNB2	84823	HP:0002133	Status epilepticus
OMIM:616540	LMNB2	84823	HP:0002650	Scoliosis
OMIM:616540	LMNB2	84823	HP:0002066	Gait ataxia
OMIM:616540	LMNB2	84823	HP:0001336	Myoclonus
ORPHANET:477	GJB2	2706	HP:0000982	Palmoplantar keratoderma
ORPHANET:477	GJB2	2706	HP:0002213	Fine hair
ORPHANET:477	GJB2	2706	HP:0000505	Visual impairment
ORPHANET:477	GJB2	2706	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:477	GJB2	2706	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:477	GJB2	2706	HP:0100543	Cognitive impairment
ORPHANET:477	GJB2	2706	HP:0000613	Photophobia
ORPHANET:477	GJB2	2706	HP:0000670	Carious teeth
ORPHANET:477	GJB2	2706	HP:0007759	Opacification of the corneal stroma
ORPHANET:477	GJB2	2706	HP:0001315	Reduced tendon reflexes
ORPHANET:477	GJB2	2706	HP:0000684	Delayed eruption of teeth
ORPHANET:477	GJB2	2706	HP:0002251	Aganglionic megacolon
ORPHANET:477	GJB2	2706	HP:0008069	Neoplasm of the skin
ORPHANET:477	GJB2	2706	HP:0001800	Hypoplastic toenails
ORPHANET:477	GJB2	2706	HP:0000407	Sensorineural hearing impairment
ORPHANET:477	GJB2	2706	HP:0008064	Ichthyosis
ORPHANET:477	GJB2	2706	HP:0000499	Abnormality of the eyelashes
ORPHANET:477	GJB2	2706	HP:0001231	Abnormality of the fingernails
ORPHANET:477	GJB2	2706	HP:0002750	Delayed skeletal maturation
ORPHANET:477	GJB2	2706	HP:0001034	Hypermelanotic macule
ORPHANET:477	GJB2	2706	HP:0000966	Hypohidrosis
ORPHANET:477	GJB2	2706	HP:0001369	Arthritis
ORPHANET:477	GJB2	2706	HP:0000028	Cryptorchidism
ORPHANET:477	GJB2	2706	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:477	GJB2	2706	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:477	GJB2	2706	HP:0000384	Preauricular skin tag
ORPHANET:477	GJB2	2706	HP:0011362	Abnormal hair quantity
ORPHANET:477	GJB2	2706	HP:0004322	Short stature
ORPHANET:477	GJB2	2706	HP:0001025	Urticaria
ORPHANET:477	GJB2	2706	HP:0002797	Osteolysis
ORPHANET:477	GJB2	2706	HP:0200042	Skin ulcer
ORPHANET:477	GJB6	10804	HP:0000982	Palmoplantar keratoderma
ORPHANET:477	GJB6	10804	HP:0002213	Fine hair
ORPHANET:477	GJB6	10804	HP:0000505	Visual impairment
ORPHANET:477	GJB6	10804	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:477	GJB6	10804	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:477	GJB6	10804	HP:0100543	Cognitive impairment
ORPHANET:477	GJB6	10804	HP:0000613	Photophobia
ORPHANET:477	GJB6	10804	HP:0000670	Carious teeth
ORPHANET:477	GJB6	10804	HP:0007759	Opacification of the corneal stroma
ORPHANET:477	GJB6	10804	HP:0001315	Reduced tendon reflexes
ORPHANET:477	GJB6	10804	HP:0000684	Delayed eruption of teeth
ORPHANET:477	GJB6	10804	HP:0002251	Aganglionic megacolon
ORPHANET:477	GJB6	10804	HP:0008069	Neoplasm of the skin
ORPHANET:477	GJB6	10804	HP:0001800	Hypoplastic toenails
ORPHANET:477	GJB6	10804	HP:0000407	Sensorineural hearing impairment
ORPHANET:477	GJB6	10804	HP:0008064	Ichthyosis
ORPHANET:477	GJB6	10804	HP:0000499	Abnormality of the eyelashes
ORPHANET:477	GJB6	10804	HP:0001231	Abnormality of the fingernails
ORPHANET:477	GJB6	10804	HP:0002750	Delayed skeletal maturation
ORPHANET:477	GJB6	10804	HP:0001034	Hypermelanotic macule
ORPHANET:477	GJB6	10804	HP:0000966	Hypohidrosis
ORPHANET:477	GJB6	10804	HP:0001369	Arthritis
ORPHANET:477	GJB6	10804	HP:0000028	Cryptorchidism
ORPHANET:477	GJB6	10804	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:477	GJB6	10804	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:477	GJB6	10804	HP:0000384	Preauricular skin tag
ORPHANET:477	GJB6	10804	HP:0011362	Abnormal hair quantity
ORPHANET:477	GJB6	10804	HP:0004322	Short stature
ORPHANET:477	GJB6	10804	HP:0001025	Urticaria
ORPHANET:477	GJB6	10804	HP:0002797	Osteolysis
ORPHANET:477	GJB6	10804	HP:0200042	Skin ulcer
OMIM:193000	SOX17	64321	HP:0000076	Vesicoureteral reflux
OMIM:193000	SOX17	64321	HP:0000924	Abnormality of the skeletal system
OMIM:193000	TNXB	7148	HP:0000076	Vesicoureteral reflux
OMIM:193000	TNXB	7148	HP:0000924	Abnormality of the skeletal system
OMIM:193000	ROBO2	6092	HP:0000076	Vesicoureteral reflux
OMIM:193000	ROBO2	6092	HP:0000924	Abnormality of the skeletal system
OMIM:278720	XPC	7508	HP:0001009	Telangiectasia
OMIM:278720	XPC	7508	HP:0001010	Hypopigmentation of the skin
OMIM:278720	XPC	7508	HP:0011463	Childhood onset
OMIM:278720	XPC	7508	HP:0000007	Autosomal recessive inheritance
OMIM:278720	XPC	7508	HP:0004334	Dermal atrophy
OMIM:278720	XPC	7508	HP:0000491	Keratitis
OMIM:278720	XPC	7508	HP:0012056	Cutaneous melanoma
OMIM:278720	XPC	7508	HP:0000509	Conjunctivitis
OMIM:278720	XPC	7508	HP:0000992	Cutaneous photosensitivity
OMIM:278720	XPC	7508	HP:0000613	Photophobia
OMIM:614845	WDR19	57728	HP:0001263	Global developmental delay
OMIM:614845	WDR19	57728	HP:0003812	Phenotypic variability
OMIM:614845	WDR19	57728	HP:0001513	Obesity
OMIM:614845	WDR19	57728	HP:0000618	Blindness
OMIM:614845	WDR19	57728	HP:0001250	Seizures
OMIM:614845	WDR19	57728	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614845	WDR19	57728	HP:0010442	Polydactyly
OMIM:614845	WDR19	57728	HP:0001399	Hepatic failure
OMIM:614845	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:614845	WDR19	57728	HP:0000639	Nystagmus
OMIM:614845	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:614845	WDR19	57728	HP:0000546	Retinal degeneration
OMIM:614845	CEP164	22897	HP:0001263	Global developmental delay
OMIM:614845	CEP164	22897	HP:0003812	Phenotypic variability
OMIM:614845	CEP164	22897	HP:0001513	Obesity
OMIM:614845	CEP164	22897	HP:0000618	Blindness
OMIM:614845	CEP164	22897	HP:0001250	Seizures
OMIM:614845	CEP164	22897	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614845	CEP164	22897	HP:0010442	Polydactyly
OMIM:614845	CEP164	22897	HP:0001399	Hepatic failure
OMIM:614845	CEP164	22897	HP:0000090	Nephronophthisis
OMIM:614845	CEP164	22897	HP:0000639	Nystagmus
OMIM:614845	CEP164	22897	HP:0000007	Autosomal recessive inheritance
OMIM:614845	CEP164	22897	HP:0000546	Retinal degeneration
OMIM:614845	TRAF3IP1	26146	HP:0001263	Global developmental delay
OMIM:614845	TRAF3IP1	26146	HP:0003812	Phenotypic variability
OMIM:614845	TRAF3IP1	26146	HP:0001513	Obesity
OMIM:614845	TRAF3IP1	26146	HP:0000618	Blindness
OMIM:614845	TRAF3IP1	26146	HP:0001250	Seizures
OMIM:614845	TRAF3IP1	26146	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614845	TRAF3IP1	26146	HP:0010442	Polydactyly
OMIM:614845	TRAF3IP1	26146	HP:0001399	Hepatic failure
OMIM:614845	TRAF3IP1	26146	HP:0000090	Nephronophthisis
OMIM:614845	TRAF3IP1	26146	HP:0000639	Nystagmus
OMIM:614845	TRAF3IP1	26146	HP:0000007	Autosomal recessive inheritance
OMIM:614845	TRAF3IP1	26146	HP:0000546	Retinal degeneration
OMIM:614845	NPHP1	4867	HP:0001263	Global developmental delay
OMIM:614845	NPHP1	4867	HP:0003812	Phenotypic variability
OMIM:614845	NPHP1	4867	HP:0001513	Obesity
OMIM:614845	NPHP1	4867	HP:0000618	Blindness
OMIM:614845	NPHP1	4867	HP:0001250	Seizures
OMIM:614845	NPHP1	4867	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614845	NPHP1	4867	HP:0010442	Polydactyly
OMIM:614845	NPHP1	4867	HP:0001399	Hepatic failure
OMIM:614845	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:614845	NPHP1	4867	HP:0000639	Nystagmus
OMIM:614845	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:614845	NPHP1	4867	HP:0000546	Retinal degeneration
OMIM:614845	NPHP4	261734	HP:0001263	Global developmental delay
OMIM:614845	NPHP4	261734	HP:0003812	Phenotypic variability
OMIM:614845	NPHP4	261734	HP:0001513	Obesity
OMIM:614845	NPHP4	261734	HP:0000618	Blindness
OMIM:614845	NPHP4	261734	HP:0001250	Seizures
OMIM:614845	NPHP4	261734	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614845	NPHP4	261734	HP:0010442	Polydactyly
OMIM:614845	NPHP4	261734	HP:0001399	Hepatic failure
OMIM:614845	NPHP4	261734	HP:0000090	Nephronophthisis
OMIM:614845	NPHP4	261734	HP:0000639	Nystagmus
OMIM:614845	NPHP4	261734	HP:0000007	Autosomal recessive inheritance
OMIM:614845	NPHP4	261734	HP:0000546	Retinal degeneration
OMIM:614845	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:614845	SDCCAG8	10806	HP:0003812	Phenotypic variability
OMIM:614845	SDCCAG8	10806	HP:0001513	Obesity
OMIM:614845	SDCCAG8	10806	HP:0000618	Blindness
OMIM:614845	SDCCAG8	10806	HP:0001250	Seizures
OMIM:614845	SDCCAG8	10806	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614845	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:614845	SDCCAG8	10806	HP:0001399	Hepatic failure
OMIM:614845	SDCCAG8	10806	HP:0000090	Nephronophthisis
OMIM:614845	SDCCAG8	10806	HP:0000639	Nystagmus
OMIM:614845	SDCCAG8	10806	HP:0000007	Autosomal recessive inheritance
OMIM:614845	SDCCAG8	10806	HP:0000546	Retinal degeneration
OMIM:614845	NPHP3	27031	HP:0001263	Global developmental delay
OMIM:614845	NPHP3	27031	HP:0003812	Phenotypic variability
OMIM:614845	NPHP3	27031	HP:0001513	Obesity
OMIM:614845	NPHP3	27031	HP:0000618	Blindness
OMIM:614845	NPHP3	27031	HP:0001250	Seizures
OMIM:614845	NPHP3	27031	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614845	NPHP3	27031	HP:0010442	Polydactyly
OMIM:614845	NPHP3	27031	HP:0001399	Hepatic failure
OMIM:614845	NPHP3	27031	HP:0000090	Nephronophthisis
OMIM:614845	NPHP3	27031	HP:0000639	Nystagmus
OMIM:614845	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:614845	NPHP3	27031	HP:0000546	Retinal degeneration
OMIM:614845	CEP290	80184	HP:0001263	Global developmental delay
OMIM:614845	CEP290	80184	HP:0003812	Phenotypic variability
OMIM:614845	CEP290	80184	HP:0001513	Obesity
OMIM:614845	CEP290	80184	HP:0000618	Blindness
OMIM:614845	CEP290	80184	HP:0001250	Seizures
OMIM:614845	CEP290	80184	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614845	CEP290	80184	HP:0010442	Polydactyly
OMIM:614845	CEP290	80184	HP:0001399	Hepatic failure
OMIM:614845	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:614845	CEP290	80184	HP:0000639	Nystagmus
OMIM:614845	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:614845	CEP290	80184	HP:0000546	Retinal degeneration
OMIM:614845	IQCB1	9657	HP:0001263	Global developmental delay
OMIM:614845	IQCB1	9657	HP:0003812	Phenotypic variability
OMIM:614845	IQCB1	9657	HP:0001513	Obesity
OMIM:614845	IQCB1	9657	HP:0000618	Blindness
OMIM:614845	IQCB1	9657	HP:0001250	Seizures
OMIM:614845	IQCB1	9657	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614845	IQCB1	9657	HP:0010442	Polydactyly
OMIM:614845	IQCB1	9657	HP:0001399	Hepatic failure
OMIM:614845	IQCB1	9657	HP:0000090	Nephronophthisis
OMIM:614845	IQCB1	9657	HP:0000639	Nystagmus
OMIM:614845	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:614845	IQCB1	9657	HP:0000546	Retinal degeneration
OMIM:614845	INVS	27130	HP:0001263	Global developmental delay
OMIM:614845	INVS	27130	HP:0003812	Phenotypic variability
OMIM:614845	INVS	27130	HP:0001513	Obesity
OMIM:614845	INVS	27130	HP:0000618	Blindness
OMIM:614845	INVS	27130	HP:0001250	Seizures
OMIM:614845	INVS	27130	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614845	INVS	27130	HP:0010442	Polydactyly
OMIM:614845	INVS	27130	HP:0001399	Hepatic failure
OMIM:614845	INVS	27130	HP:0000090	Nephronophthisis
OMIM:614845	INVS	27130	HP:0000639	Nystagmus
OMIM:614845	INVS	27130	HP:0000007	Autosomal recessive inheritance
OMIM:614845	INVS	27130	HP:0000546	Retinal degeneration
OMIM:606763	DNAAF2	55172	HP:0000789	Infertility
OMIM:606763	DNAAF2	55172	HP:0003577	Congenital onset
OMIM:606763	DNAAF2	55172	HP:0012263	Immotile cilia
OMIM:606763	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
OMIM:606763	DNAAF2	55172	HP:0000365	Hearing impairment
OMIM:606763	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:606763	DNAAF2	55172	HP:0000388	Otitis media
OMIM:606763	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:606763	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:606763	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DNAAF2	55172	HP:0002098	Respiratory distress
OMIM:606763	CCNO	10309	HP:0000789	Infertility
OMIM:606763	CCNO	10309	HP:0003577	Congenital onset
OMIM:606763	CCNO	10309	HP:0012263	Immotile cilia
OMIM:606763	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:606763	CCNO	10309	HP:0000365	Hearing impairment
OMIM:606763	CCNO	10309	HP:0000246	Sinusitis
OMIM:606763	CCNO	10309	HP:0000388	Otitis media
OMIM:606763	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:606763	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:606763	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:606763	CCNO	10309	HP:0002098	Respiratory distress
OMIM:606763	DNAAF5	54919	HP:0000789	Infertility
OMIM:606763	DNAAF5	54919	HP:0003577	Congenital onset
OMIM:606763	DNAAF5	54919	HP:0012263	Immotile cilia
OMIM:606763	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
OMIM:606763	DNAAF5	54919	HP:0000365	Hearing impairment
OMIM:606763	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:606763	DNAAF5	54919	HP:0000388	Otitis media
OMIM:606763	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:606763	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:606763	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DNAAF5	54919	HP:0002098	Respiratory distress
OMIM:606763	DNAAF3	352909	HP:0000789	Infertility
OMIM:606763	DNAAF3	352909	HP:0003577	Congenital onset
OMIM:606763	DNAAF3	352909	HP:0012263	Immotile cilia
OMIM:606763	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:606763	DNAAF3	352909	HP:0000365	Hearing impairment
OMIM:606763	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:606763	DNAAF3	352909	HP:0000388	Otitis media
OMIM:606763	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:606763	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:606763	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DNAAF3	352909	HP:0002098	Respiratory distress
OMIM:606763	DNAI1	27019	HP:0000789	Infertility
OMIM:606763	DNAI1	27019	HP:0003577	Congenital onset
OMIM:606763	DNAI1	27019	HP:0012263	Immotile cilia
OMIM:606763	DNAI1	27019	HP:0002205	Recurrent respiratory infections
OMIM:606763	DNAI1	27019	HP:0000365	Hearing impairment
OMIM:606763	DNAI1	27019	HP:0000246	Sinusitis
OMIM:606763	DNAI1	27019	HP:0000388	Otitis media
OMIM:606763	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:606763	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:606763	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DNAI1	27019	HP:0002098	Respiratory distress
OMIM:606763	DRC1	92749	HP:0000789	Infertility
OMIM:606763	DRC1	92749	HP:0003577	Congenital onset
OMIM:606763	DRC1	92749	HP:0012263	Immotile cilia
OMIM:606763	DRC1	92749	HP:0002205	Recurrent respiratory infections
OMIM:606763	DRC1	92749	HP:0000365	Hearing impairment
OMIM:606763	DRC1	92749	HP:0000246	Sinusitis
OMIM:606763	DRC1	92749	HP:0000388	Otitis media
OMIM:606763	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:606763	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:606763	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DRC1	92749	HP:0002098	Respiratory distress
OMIM:606763	SPAG1	6674	HP:0000789	Infertility
OMIM:606763	SPAG1	6674	HP:0003577	Congenital onset
OMIM:606763	SPAG1	6674	HP:0012263	Immotile cilia
OMIM:606763	SPAG1	6674	HP:0002205	Recurrent respiratory infections
OMIM:606763	SPAG1	6674	HP:0000365	Hearing impairment
OMIM:606763	SPAG1	6674	HP:0000246	Sinusitis
OMIM:606763	SPAG1	6674	HP:0000388	Otitis media
OMIM:606763	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:606763	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:606763	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:606763	SPAG1	6674	HP:0002098	Respiratory distress
OMIM:606763	RSPH3	83861	HP:0000789	Infertility
OMIM:606763	RSPH3	83861	HP:0003577	Congenital onset
OMIM:606763	RSPH3	83861	HP:0012263	Immotile cilia
OMIM:606763	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:606763	RSPH3	83861	HP:0000365	Hearing impairment
OMIM:606763	RSPH3	83861	HP:0000246	Sinusitis
OMIM:606763	RSPH3	83861	HP:0000388	Otitis media
OMIM:606763	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:606763	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:606763	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:606763	RSPH3	83861	HP:0002098	Respiratory distress
OMIM:606763	RPGR	6103	HP:0000789	Infertility
OMIM:606763	RPGR	6103	HP:0003577	Congenital onset
OMIM:606763	RPGR	6103	HP:0012263	Immotile cilia
OMIM:606763	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:606763	RPGR	6103	HP:0000365	Hearing impairment
OMIM:606763	RPGR	6103	HP:0000246	Sinusitis
OMIM:606763	RPGR	6103	HP:0000388	Otitis media
OMIM:606763	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:606763	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:606763	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:606763	RPGR	6103	HP:0002098	Respiratory distress
OMIM:606763	LRRC6	23639	HP:0000789	Infertility
OMIM:606763	LRRC6	23639	HP:0003577	Congenital onset
OMIM:606763	LRRC6	23639	HP:0012263	Immotile cilia
OMIM:606763	LRRC6	23639	HP:0002205	Recurrent respiratory infections
OMIM:606763	LRRC6	23639	HP:0000365	Hearing impairment
OMIM:606763	LRRC6	23639	HP:0000246	Sinusitis
OMIM:606763	LRRC6	23639	HP:0000388	Otitis media
OMIM:606763	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:606763	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:606763	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:606763	LRRC6	23639	HP:0002098	Respiratory distress
OMIM:606763	DNAL1	83544	HP:0000789	Infertility
OMIM:606763	DNAL1	83544	HP:0003577	Congenital onset
OMIM:606763	DNAL1	83544	HP:0012263	Immotile cilia
OMIM:606763	DNAL1	83544	HP:0002205	Recurrent respiratory infections
OMIM:606763	DNAL1	83544	HP:0000365	Hearing impairment
OMIM:606763	DNAL1	83544	HP:0000246	Sinusitis
OMIM:606763	DNAL1	83544	HP:0000388	Otitis media
OMIM:606763	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:606763	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:606763	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DNAL1	83544	HP:0002098	Respiratory distress
OMIM:606763	ARMC4	55130	HP:0000789	Infertility
OMIM:606763	ARMC4	55130	HP:0003577	Congenital onset
OMIM:606763	ARMC4	55130	HP:0012263	Immotile cilia
OMIM:606763	ARMC4	55130	HP:0002205	Recurrent respiratory infections
OMIM:606763	ARMC4	55130	HP:0000365	Hearing impairment
OMIM:606763	ARMC4	55130	HP:0000246	Sinusitis
OMIM:606763	ARMC4	55130	HP:0000388	Otitis media
OMIM:606763	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:606763	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:606763	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:606763	ARMC4	55130	HP:0002098	Respiratory distress
OMIM:606763	CCDC103	388389	HP:0000789	Infertility
OMIM:606763	CCDC103	388389	HP:0003577	Congenital onset
OMIM:606763	CCDC103	388389	HP:0012263	Immotile cilia
OMIM:606763	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:606763	CCDC103	388389	HP:0000365	Hearing impairment
OMIM:606763	CCDC103	388389	HP:0000246	Sinusitis
OMIM:606763	CCDC103	388389	HP:0000388	Otitis media
OMIM:606763	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:606763	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:606763	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:606763	CCDC103	388389	HP:0002098	Respiratory distress
OMIM:606763	OFD1	8481	HP:0000789	Infertility
OMIM:606763	OFD1	8481	HP:0003577	Congenital onset
OMIM:606763	OFD1	8481	HP:0012263	Immotile cilia
OMIM:606763	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:606763	OFD1	8481	HP:0000365	Hearing impairment
OMIM:606763	OFD1	8481	HP:0000246	Sinusitis
OMIM:606763	OFD1	8481	HP:0000388	Otitis media
OMIM:606763	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:606763	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:606763	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:606763	OFD1	8481	HP:0002098	Respiratory distress
OMIM:606763	DNAAF1	123872	HP:0000789	Infertility
OMIM:606763	DNAAF1	123872	HP:0003577	Congenital onset
OMIM:606763	DNAAF1	123872	HP:0012263	Immotile cilia
OMIM:606763	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
OMIM:606763	DNAAF1	123872	HP:0000365	Hearing impairment
OMIM:606763	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:606763	DNAAF1	123872	HP:0000388	Otitis media
OMIM:606763	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:606763	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:606763	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DNAAF1	123872	HP:0002098	Respiratory distress
OMIM:606763	RSPH4A	345895	HP:0000789	Infertility
OMIM:606763	RSPH4A	345895	HP:0003577	Congenital onset
OMIM:606763	RSPH4A	345895	HP:0012263	Immotile cilia
OMIM:606763	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
OMIM:606763	RSPH4A	345895	HP:0000365	Hearing impairment
OMIM:606763	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:606763	RSPH4A	345895	HP:0000388	Otitis media
OMIM:606763	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:606763	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:606763	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:606763	RSPH4A	345895	HP:0002098	Respiratory distress
OMIM:606763	RSPH1	89765	HP:0000789	Infertility
OMIM:606763	RSPH1	89765	HP:0003577	Congenital onset
OMIM:606763	RSPH1	89765	HP:0012263	Immotile cilia
OMIM:606763	RSPH1	89765	HP:0002205	Recurrent respiratory infections
OMIM:606763	RSPH1	89765	HP:0000365	Hearing impairment
OMIM:606763	RSPH1	89765	HP:0000246	Sinusitis
OMIM:606763	RSPH1	89765	HP:0000388	Otitis media
OMIM:606763	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:606763	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:606763	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:606763	RSPH1	89765	HP:0002098	Respiratory distress
OMIM:606763	ZMYND10	51364	HP:0000789	Infertility
OMIM:606763	ZMYND10	51364	HP:0003577	Congenital onset
OMIM:606763	ZMYND10	51364	HP:0012263	Immotile cilia
OMIM:606763	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
OMIM:606763	ZMYND10	51364	HP:0000365	Hearing impairment
OMIM:606763	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:606763	ZMYND10	51364	HP:0000388	Otitis media
OMIM:606763	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:606763	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:606763	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:606763	ZMYND10	51364	HP:0002098	Respiratory distress
OMIM:606763	DNAH5	1767	HP:0000789	Infertility
OMIM:606763	DNAH5	1767	HP:0003577	Congenital onset
OMIM:606763	DNAH5	1767	HP:0012263	Immotile cilia
OMIM:606763	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:606763	DNAH5	1767	HP:0000365	Hearing impairment
OMIM:606763	DNAH5	1767	HP:0000246	Sinusitis
OMIM:606763	DNAH5	1767	HP:0000388	Otitis media
OMIM:606763	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:606763	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:606763	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DNAH5	1767	HP:0002098	Respiratory distress
OMIM:606763	CCDC65	85478	HP:0000789	Infertility
OMIM:606763	CCDC65	85478	HP:0003577	Congenital onset
OMIM:606763	CCDC65	85478	HP:0012263	Immotile cilia
OMIM:606763	CCDC65	85478	HP:0002205	Recurrent respiratory infections
OMIM:606763	CCDC65	85478	HP:0000365	Hearing impairment
OMIM:606763	CCDC65	85478	HP:0000246	Sinusitis
OMIM:606763	CCDC65	85478	HP:0000388	Otitis media
OMIM:606763	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:606763	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:606763	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:606763	CCDC65	85478	HP:0002098	Respiratory distress
OMIM:606763	C21ORF59	56683	HP:0000789	Infertility
OMIM:606763	C21ORF59	56683	HP:0003577	Congenital onset
OMIM:606763	C21ORF59	56683	HP:0012263	Immotile cilia
OMIM:606763	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
OMIM:606763	C21ORF59	56683	HP:0000365	Hearing impairment
OMIM:606763	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:606763	C21ORF59	56683	HP:0000388	Otitis media
OMIM:606763	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:606763	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:606763	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:606763	C21ORF59	56683	HP:0002098	Respiratory distress
OMIM:606763	DYX1C1	161582	HP:0000789	Infertility
OMIM:606763	DYX1C1	161582	HP:0003577	Congenital onset
OMIM:606763	DYX1C1	161582	HP:0012263	Immotile cilia
OMIM:606763	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
OMIM:606763	DYX1C1	161582	HP:0000365	Hearing impairment
OMIM:606763	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:606763	DYX1C1	161582	HP:0000388	Otitis media
OMIM:606763	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:606763	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:606763	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DYX1C1	161582	HP:0002098	Respiratory distress
OMIM:606763	CCDC151	115948	HP:0000789	Infertility
OMIM:606763	CCDC151	115948	HP:0003577	Congenital onset
OMIM:606763	CCDC151	115948	HP:0012263	Immotile cilia
OMIM:606763	CCDC151	115948	HP:0002205	Recurrent respiratory infections
OMIM:606763	CCDC151	115948	HP:0000365	Hearing impairment
OMIM:606763	CCDC151	115948	HP:0000246	Sinusitis
OMIM:606763	CCDC151	115948	HP:0000388	Otitis media
OMIM:606763	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:606763	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:606763	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:606763	CCDC151	115948	HP:0002098	Respiratory distress
OMIM:606763	RSPH9	221421	HP:0000789	Infertility
OMIM:606763	RSPH9	221421	HP:0003577	Congenital onset
OMIM:606763	RSPH9	221421	HP:0012263	Immotile cilia
OMIM:606763	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:606763	RSPH9	221421	HP:0000365	Hearing impairment
OMIM:606763	RSPH9	221421	HP:0000246	Sinusitis
OMIM:606763	RSPH9	221421	HP:0000388	Otitis media
OMIM:606763	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:606763	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:606763	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:606763	RSPH9	221421	HP:0002098	Respiratory distress
OMIM:606763	CCDC39	339829	HP:0000789	Infertility
OMIM:606763	CCDC39	339829	HP:0003577	Congenital onset
OMIM:606763	CCDC39	339829	HP:0012263	Immotile cilia
OMIM:606763	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:606763	CCDC39	339829	HP:0000365	Hearing impairment
OMIM:606763	CCDC39	339829	HP:0000246	Sinusitis
OMIM:606763	CCDC39	339829	HP:0000388	Otitis media
OMIM:606763	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:606763	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:606763	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:606763	CCDC39	339829	HP:0002098	Respiratory distress
OMIM:606763	HYDIN	54768	HP:0000789	Infertility
OMIM:606763	HYDIN	54768	HP:0003577	Congenital onset
OMIM:606763	HYDIN	54768	HP:0012263	Immotile cilia
OMIM:606763	HYDIN	54768	HP:0002205	Recurrent respiratory infections
OMIM:606763	HYDIN	54768	HP:0000365	Hearing impairment
OMIM:606763	HYDIN	54768	HP:0000246	Sinusitis
OMIM:606763	HYDIN	54768	HP:0000388	Otitis media
OMIM:606763	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:606763	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:606763	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:606763	HYDIN	54768	HP:0002098	Respiratory distress
OMIM:606763	CCDC114	93233	HP:0000789	Infertility
OMIM:606763	CCDC114	93233	HP:0003577	Congenital onset
OMIM:606763	CCDC114	93233	HP:0012263	Immotile cilia
OMIM:606763	CCDC114	93233	HP:0002205	Recurrent respiratory infections
OMIM:606763	CCDC114	93233	HP:0000365	Hearing impairment
OMIM:606763	CCDC114	93233	HP:0000246	Sinusitis
OMIM:606763	CCDC114	93233	HP:0000388	Otitis media
OMIM:606763	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:606763	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:606763	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:606763	CCDC114	93233	HP:0002098	Respiratory distress
OMIM:606763	NME8	51314	HP:0000789	Infertility
OMIM:606763	NME8	51314	HP:0003577	Congenital onset
OMIM:606763	NME8	51314	HP:0012263	Immotile cilia
OMIM:606763	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:606763	NME8	51314	HP:0000365	Hearing impairment
OMIM:606763	NME8	51314	HP:0000246	Sinusitis
OMIM:606763	NME8	51314	HP:0000388	Otitis media
OMIM:606763	NME8	51314	HP:0002110	Bronchiectasis
OMIM:606763	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:606763	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:606763	NME8	51314	HP:0002098	Respiratory distress
OMIM:606763	CCDC40	55036	HP:0000789	Infertility
OMIM:606763	CCDC40	55036	HP:0003577	Congenital onset
OMIM:606763	CCDC40	55036	HP:0012263	Immotile cilia
OMIM:606763	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:606763	CCDC40	55036	HP:0000365	Hearing impairment
OMIM:606763	CCDC40	55036	HP:0000246	Sinusitis
OMIM:606763	CCDC40	55036	HP:0000388	Otitis media
OMIM:606763	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:606763	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:606763	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:606763	CCDC40	55036	HP:0002098	Respiratory distress
OMIM:606763	DNAH11	8701	HP:0000789	Infertility
OMIM:606763	DNAH11	8701	HP:0003577	Congenital onset
OMIM:606763	DNAH11	8701	HP:0012263	Immotile cilia
OMIM:606763	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:606763	DNAH11	8701	HP:0000365	Hearing impairment
OMIM:606763	DNAH11	8701	HP:0000246	Sinusitis
OMIM:606763	DNAH11	8701	HP:0000388	Otitis media
OMIM:606763	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:606763	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:606763	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DNAH11	8701	HP:0002098	Respiratory distress
OMIM:606763	DNAI2	64446	HP:0000789	Infertility
OMIM:606763	DNAI2	64446	HP:0003577	Congenital onset
OMIM:606763	DNAI2	64446	HP:0012263	Immotile cilia
OMIM:606763	DNAI2	64446	HP:0002205	Recurrent respiratory infections
OMIM:606763	DNAI2	64446	HP:0000365	Hearing impairment
OMIM:606763	DNAI2	64446	HP:0000246	Sinusitis
OMIM:606763	DNAI2	64446	HP:0000388	Otitis media
OMIM:606763	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:606763	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:606763	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:606763	DNAI2	64446	HP:0002098	Respiratory distress
OMIM:606763	GAS8	2622	HP:0000789	Infertility
OMIM:606763	GAS8	2622	HP:0003577	Congenital onset
OMIM:606763	GAS8	2622	HP:0012263	Immotile cilia
OMIM:606763	GAS8	2622	HP:0002205	Recurrent respiratory infections
OMIM:606763	GAS8	2622	HP:0000365	Hearing impairment
OMIM:606763	GAS8	2622	HP:0000246	Sinusitis
OMIM:606763	GAS8	2622	HP:0000388	Otitis media
OMIM:606763	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:606763	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:606763	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:606763	GAS8	2622	HP:0002098	Respiratory distress
OMIM:608161	IMPG1	3617	HP:0000613	Photophobia
OMIM:608161	IMPG1	3617	HP:0000006	Autosomal dominant inheritance
OMIM:608161	IMPG1	3617	HP:0000505	Visual impairment
OMIM:608161	IMPG1	3617	HP:0007401	Macular atrophy
OMIM:608161	IMPG1	3617	HP:0007663	Reduced visual acuity
OMIM:608161	PRPH2	5961	HP:0000613	Photophobia
OMIM:608161	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:608161	PRPH2	5961	HP:0000505	Visual impairment
OMIM:608161	PRPH2	5961	HP:0007401	Macular atrophy
OMIM:608161	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:608161	IMPG2	50939	HP:0000613	Photophobia
OMIM:608161	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:608161	IMPG2	50939	HP:0000505	Visual impairment
OMIM:608161	IMPG2	50939	HP:0007401	Macular atrophy
OMIM:608161	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:608161	BEST1	7439	HP:0000613	Photophobia
OMIM:608161	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:608161	BEST1	7439	HP:0000505	Visual impairment
OMIM:608161	BEST1	7439	HP:0007401	Macular atrophy
OMIM:608161	BEST1	7439	HP:0007663	Reduced visual acuity
ORPHANET:313	ALOXE3	59344	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:313	ALOXE3	59344	HP:0000232	Everted lower lip vermilion
ORPHANET:313	ALOXE3	59344	HP:0100543	Cognitive impairment
ORPHANET:313	ALOXE3	59344	HP:0011362	Abnormal hair quantity
ORPHANET:313	ALOXE3	59344	HP:0100679	Lack of skin elasticity
ORPHANET:313	ALOXE3	59344	HP:0000492	Abnormality of the eyelid
ORPHANET:313	ALOXE3	59344	HP:0008064	Ichthyosis
ORPHANET:313	ALOXE3	59344	HP:0004322	Short stature
ORPHANET:313	ALOXE3	59344	HP:0000164	Abnormality of the teeth
ORPHANET:313	ALOXE3	59344	HP:0001944	Dehydration
ORPHANET:313	ALOXE3	59344	HP:0001597	Abnormality of the nail
ORPHANET:313	ALOXE3	59344	HP:0000989	Pruritus
ORPHANET:313	ALOXE3	59344	HP:0000388	Otitis media
ORPHANET:313	ALOXE3	59344	HP:0000083	Renal insufficiency
ORPHANET:313	ALOXE3	59344	HP:0000958	Dry skin
ORPHANET:313	ALOXE3	59344	HP:0000962	Hyperkeratosis
ORPHANET:313	ALOXE3	59344	HP:0011039	Abnormality of the helix
ORPHANET:313	ALOXE3	59344	HP:0002205	Recurrent respiratory infections
ORPHANET:313	ALOXE3	59344	HP:0100806	Sepsis
ORPHANET:313	ALOX12B	242	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:313	ALOX12B	242	HP:0000232	Everted lower lip vermilion
ORPHANET:313	ALOX12B	242	HP:0100543	Cognitive impairment
ORPHANET:313	ALOX12B	242	HP:0011362	Abnormal hair quantity
ORPHANET:313	ALOX12B	242	HP:0100679	Lack of skin elasticity
ORPHANET:313	ALOX12B	242	HP:0000492	Abnormality of the eyelid
ORPHANET:313	ALOX12B	242	HP:0008064	Ichthyosis
ORPHANET:313	ALOX12B	242	HP:0004322	Short stature
ORPHANET:313	ALOX12B	242	HP:0000164	Abnormality of the teeth
ORPHANET:313	ALOX12B	242	HP:0001944	Dehydration
ORPHANET:313	ALOX12B	242	HP:0001597	Abnormality of the nail
ORPHANET:313	ALOX12B	242	HP:0000989	Pruritus
ORPHANET:313	ALOX12B	242	HP:0000388	Otitis media
ORPHANET:313	ALOX12B	242	HP:0000083	Renal insufficiency
ORPHANET:313	ALOX12B	242	HP:0000958	Dry skin
ORPHANET:313	ALOX12B	242	HP:0000962	Hyperkeratosis
ORPHANET:313	ALOX12B	242	HP:0011039	Abnormality of the helix
ORPHANET:313	ALOX12B	242	HP:0002205	Recurrent respiratory infections
ORPHANET:313	ALOX12B	242	HP:0100806	Sepsis
ORPHANET:313	LIPN	643418	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:313	LIPN	643418	HP:0000232	Everted lower lip vermilion
ORPHANET:313	LIPN	643418	HP:0100543	Cognitive impairment
ORPHANET:313	LIPN	643418	HP:0011362	Abnormal hair quantity
ORPHANET:313	LIPN	643418	HP:0100679	Lack of skin elasticity
ORPHANET:313	LIPN	643418	HP:0000492	Abnormality of the eyelid
ORPHANET:313	LIPN	643418	HP:0008064	Ichthyosis
ORPHANET:313	LIPN	643418	HP:0004322	Short stature
ORPHANET:313	LIPN	643418	HP:0000164	Abnormality of the teeth
ORPHANET:313	LIPN	643418	HP:0001944	Dehydration
ORPHANET:313	LIPN	643418	HP:0001597	Abnormality of the nail
ORPHANET:313	LIPN	643418	HP:0000989	Pruritus
ORPHANET:313	LIPN	643418	HP:0000388	Otitis media
ORPHANET:313	LIPN	643418	HP:0000083	Renal insufficiency
ORPHANET:313	LIPN	643418	HP:0000958	Dry skin
ORPHANET:313	LIPN	643418	HP:0000962	Hyperkeratosis
ORPHANET:313	LIPN	643418	HP:0011039	Abnormality of the helix
ORPHANET:313	LIPN	643418	HP:0002205	Recurrent respiratory infections
ORPHANET:313	LIPN	643418	HP:0100806	Sepsis
ORPHANET:313	ABCA12	26154	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:313	ABCA12	26154	HP:0000232	Everted lower lip vermilion
ORPHANET:313	ABCA12	26154	HP:0100543	Cognitive impairment
ORPHANET:313	ABCA12	26154	HP:0011362	Abnormal hair quantity
ORPHANET:313	ABCA12	26154	HP:0100679	Lack of skin elasticity
ORPHANET:313	ABCA12	26154	HP:0000492	Abnormality of the eyelid
ORPHANET:313	ABCA12	26154	HP:0008064	Ichthyosis
ORPHANET:313	ABCA12	26154	HP:0004322	Short stature
ORPHANET:313	ABCA12	26154	HP:0000164	Abnormality of the teeth
ORPHANET:313	ABCA12	26154	HP:0001944	Dehydration
ORPHANET:313	ABCA12	26154	HP:0001597	Abnormality of the nail
ORPHANET:313	ABCA12	26154	HP:0000989	Pruritus
ORPHANET:313	ABCA12	26154	HP:0000388	Otitis media
ORPHANET:313	ABCA12	26154	HP:0000083	Renal insufficiency
ORPHANET:313	ABCA12	26154	HP:0000958	Dry skin
ORPHANET:313	ABCA12	26154	HP:0000962	Hyperkeratosis
ORPHANET:313	ABCA12	26154	HP:0011039	Abnormality of the helix
ORPHANET:313	ABCA12	26154	HP:0002205	Recurrent respiratory infections
ORPHANET:313	ABCA12	26154	HP:0100806	Sepsis
ORPHANET:313	TGM1	7051	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:313	TGM1	7051	HP:0000232	Everted lower lip vermilion
ORPHANET:313	TGM1	7051	HP:0100543	Cognitive impairment
ORPHANET:313	TGM1	7051	HP:0011362	Abnormal hair quantity
ORPHANET:313	TGM1	7051	HP:0100679	Lack of skin elasticity
ORPHANET:313	TGM1	7051	HP:0000492	Abnormality of the eyelid
ORPHANET:313	TGM1	7051	HP:0008064	Ichthyosis
ORPHANET:313	TGM1	7051	HP:0004322	Short stature
ORPHANET:313	TGM1	7051	HP:0000164	Abnormality of the teeth
ORPHANET:313	TGM1	7051	HP:0001944	Dehydration
ORPHANET:313	TGM1	7051	HP:0001597	Abnormality of the nail
ORPHANET:313	TGM1	7051	HP:0000989	Pruritus
ORPHANET:313	TGM1	7051	HP:0000388	Otitis media
ORPHANET:313	TGM1	7051	HP:0000083	Renal insufficiency
ORPHANET:313	TGM1	7051	HP:0000958	Dry skin
ORPHANET:313	TGM1	7051	HP:0000962	Hyperkeratosis
ORPHANET:313	TGM1	7051	HP:0011039	Abnormality of the helix
ORPHANET:313	TGM1	7051	HP:0002205	Recurrent respiratory infections
ORPHANET:313	TGM1	7051	HP:0100806	Sepsis
ORPHANET:313	CYP4F22	126410	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:313	CYP4F22	126410	HP:0000232	Everted lower lip vermilion
ORPHANET:313	CYP4F22	126410	HP:0100543	Cognitive impairment
ORPHANET:313	CYP4F22	126410	HP:0011362	Abnormal hair quantity
ORPHANET:313	CYP4F22	126410	HP:0100679	Lack of skin elasticity
ORPHANET:313	CYP4F22	126410	HP:0000492	Abnormality of the eyelid
ORPHANET:313	CYP4F22	126410	HP:0008064	Ichthyosis
ORPHANET:313	CYP4F22	126410	HP:0004322	Short stature
ORPHANET:313	CYP4F22	126410	HP:0000164	Abnormality of the teeth
ORPHANET:313	CYP4F22	126410	HP:0001944	Dehydration
ORPHANET:313	CYP4F22	126410	HP:0001597	Abnormality of the nail
ORPHANET:313	CYP4F22	126410	HP:0000989	Pruritus
ORPHANET:313	CYP4F22	126410	HP:0000388	Otitis media
ORPHANET:313	CYP4F22	126410	HP:0000083	Renal insufficiency
ORPHANET:313	CYP4F22	126410	HP:0000958	Dry skin
ORPHANET:313	CYP4F22	126410	HP:0000962	Hyperkeratosis
ORPHANET:313	CYP4F22	126410	HP:0011039	Abnormality of the helix
ORPHANET:313	CYP4F22	126410	HP:0002205	Recurrent respiratory infections
ORPHANET:313	CYP4F22	126410	HP:0100806	Sepsis
ORPHANET:313	NIPAL4	348938	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:313	NIPAL4	348938	HP:0000232	Everted lower lip vermilion
ORPHANET:313	NIPAL4	348938	HP:0100543	Cognitive impairment
ORPHANET:313	NIPAL4	348938	HP:0011362	Abnormal hair quantity
ORPHANET:313	NIPAL4	348938	HP:0100679	Lack of skin elasticity
ORPHANET:313	NIPAL4	348938	HP:0000492	Abnormality of the eyelid
ORPHANET:313	NIPAL4	348938	HP:0008064	Ichthyosis
ORPHANET:313	NIPAL4	348938	HP:0004322	Short stature
ORPHANET:313	NIPAL4	348938	HP:0000164	Abnormality of the teeth
ORPHANET:313	NIPAL4	348938	HP:0001944	Dehydration
ORPHANET:313	NIPAL4	348938	HP:0001597	Abnormality of the nail
ORPHANET:313	NIPAL4	348938	HP:0000989	Pruritus
ORPHANET:313	NIPAL4	348938	HP:0000388	Otitis media
ORPHANET:313	NIPAL4	348938	HP:0000083	Renal insufficiency
ORPHANET:313	NIPAL4	348938	HP:0000958	Dry skin
ORPHANET:313	NIPAL4	348938	HP:0000962	Hyperkeratosis
ORPHANET:313	NIPAL4	348938	HP:0011039	Abnormality of the helix
ORPHANET:313	NIPAL4	348938	HP:0002205	Recurrent respiratory infections
ORPHANET:313	NIPAL4	348938	HP:0100806	Sepsis
OMIM:103285	TP63	8626	HP:0000478	Abnormality of the eye
OMIM:103285	TP63	8626	HP:0002557	Hypoplastic nipples
OMIM:103285	TP63	8626	HP:0000668	Hypodontia
OMIM:103285	TP63	8626	HP:0001770	Toe syndactyly
OMIM:103285	TP63	8626	HP:0002213	Fine hair
OMIM:103285	TP63	8626	HP:0000995	Melanocytic nevus
OMIM:103285	TP63	8626	HP:0004334	Dermal atrophy
OMIM:103285	TP63	8626	HP:0008388	Abnormality of the toenails
OMIM:103285	TP63	8626	HP:0006482	Abnormality of dental morphology
OMIM:103285	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:103285	TP63	8626	HP:0000691	Microdontia
OMIM:103285	TP63	8626	HP:0200042	Skin ulcer
OMIM:103285	TP63	8626	HP:0001231	Abnormality of the fingernails
OMIM:103285	TP63	8626	HP:0000964	Eczema
OMIM:103285	TP63	8626	HP:0001480	Freckling
OMIM:103285	TP63	8626	HP:0000958	Dry skin
OMIM:103285	TP63	8626	HP:0000963	Thin skin
OMIM:103285	TP63	8626	HP:0002215	Sparse axillary hair
OMIM:103285	TP63	8626	HP:0002209	Sparse scalp hair
OMIM:103285	TP63	8626	HP:0006610	Wide intermamillary distance
OMIM:103285	TP63	8626	HP:0000426	Prominent nasal bridge
OMIM:103285	TP63	8626	HP:0000202	Oral cleft
OMIM:103285	TP63	8626	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:103285	TP63	8626	HP:0006101	Finger syndactyly
OMIM:103285	TP63	8626	HP:0000968	Ectodermal dysplasia
OMIM:103285	TP63	8626	HP:0000992	Cutaneous photosensitivity
OMIM:103285	TP63	8626	HP:0001171	Split hand
OMIM:103285	TP63	8626	HP:0000509	Conjunctivitis
OMIM:613827	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613827	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:613827	RLBP1	6017	HP:0000505	Visual impairment
OMIM:613827	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613827	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:613827	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613827	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613827	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:613827	ARL6	84100	HP:0000505	Visual impairment
OMIM:613827	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613827	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:613827	CERKL	375298	HP:0000505	Visual impairment
OMIM:613827	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613827	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:613827	PRPF31	26121	HP:0000505	Visual impairment
OMIM:613827	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613827	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:613827	TTC8	123016	HP:0000505	Visual impairment
OMIM:613827	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613827	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:613827	PROM1	8842	HP:0000505	Visual impairment
OMIM:613827	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613827	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:613827	LRAT	9227	HP:0000505	Visual impairment
OMIM:613827	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613827	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:613827	IFT140	9742	HP:0000505	Visual impairment
OMIM:613827	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613827	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:613827	BEST1	7439	HP:0000505	Visual impairment
OMIM:613827	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613827	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:613827	NEK2	4751	HP:0000505	Visual impairment
OMIM:613827	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613827	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:613827	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:613827	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613827	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:613827	NR2E3	10002	HP:0000505	Visual impairment
OMIM:613827	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613827	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:613827	EYS	346007	HP:0000505	Visual impairment
OMIM:613827	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613827	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:613827	MAK	4117	HP:0000505	Visual impairment
OMIM:613827	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613827	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:613827	SAG	6295	HP:0000505	Visual impairment
OMIM:613827	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613827	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:613827	ABCA4	24	HP:0000505	Visual impairment
OMIM:613827	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613827	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:613827	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613827	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613827	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:613827	PDE6G	5148	HP:0000505	Visual impairment
OMIM:613827	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613827	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:613827	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613827	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613827	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:613827	OFD1	8481	HP:0000505	Visual impairment
OMIM:613827	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613827	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:613827	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613827	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613827	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:613827	NRL	4901	HP:0000505	Visual impairment
OMIM:613827	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613827	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:613827	PDE6B	5158	HP:0000505	Visual impairment
OMIM:613827	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613827	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:613827	KLHL7	55975	HP:0000505	Visual impairment
OMIM:613827	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613827	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:613827	PRPF4	9128	HP:0000505	Visual impairment
OMIM:613827	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613827	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:613827	PRPF3	9129	HP:0000505	Visual impairment
OMIM:613827	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613827	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:613827	FAM161A	84140	HP:0000505	Visual impairment
OMIM:613827	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613827	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:613827	IFT172	26160	HP:0000505	Visual impairment
OMIM:613827	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613827	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:613827	KIZ	55857	HP:0000505	Visual impairment
OMIM:613827	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613827	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:613827	CDHR1	92211	HP:0000505	Visual impairment
OMIM:613827	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613827	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:613827	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613827	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613827	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:613827	RBP3	5949	HP:0000505	Visual impairment
OMIM:613827	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613827	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:613827	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:613827	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613827	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:613827	FSCN2	25794	HP:0000505	Visual impairment
OMIM:613827	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613827	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:613827	PRCD	768206	HP:0000505	Visual impairment
OMIM:613827	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613827	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:613827	BBS2	583	HP:0000505	Visual impairment
OMIM:613827	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613827	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:613827	RDH12	145226	HP:0000505	Visual impairment
OMIM:613827	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613827	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:613827	PRPH2	5961	HP:0000505	Visual impairment
OMIM:613827	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613827	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:613827	DHDDS	79947	HP:0000505	Visual impairment
OMIM:613827	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613827	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:613827	ROM1	6094	HP:0000505	Visual impairment
OMIM:613827	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613827	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:613827	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613827	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613827	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:613827	RP9	6100	HP:0000505	Visual impairment
OMIM:613827	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613827	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:613827	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613827	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613827	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:613827	RP1	6101	HP:0000505	Visual impairment
OMIM:613827	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613827	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:613827	RP2	6102	HP:0000505	Visual impairment
OMIM:613827	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613827	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:613827	RPGR	6103	HP:0000505	Visual impairment
OMIM:613827	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613827	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:613827	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:613827	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613827	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:613827	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:613827	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613827	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:613827	IDH3B	3420	HP:0000505	Visual impairment
OMIM:613827	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613827	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:613827	MERTK	10461	HP:0000505	Visual impairment
OMIM:613827	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613827	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:613827	PRPF8	10594	HP:0000505	Visual impairment
OMIM:613827	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613827	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:613827	TOPORS	10210	HP:0000505	Visual impairment
OMIM:613827	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613827	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:613827	USH2A	7399	HP:0000505	Visual impairment
OMIM:613827	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613827	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:613827	RPE65	6121	HP:0000505	Visual impairment
OMIM:613827	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613827	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:613827	CLRN1	7401	HP:0000505	Visual impairment
OMIM:613827	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613827	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:613827	CNGB1	1258	HP:0000505	Visual impairment
OMIM:613827	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613827	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:613827	RGR	5995	HP:0000505	Visual impairment
OMIM:613827	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613827	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:613827	CNGA1	1259	HP:0000505	Visual impairment
OMIM:613827	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613827	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:613827	TUB	7275	HP:0000505	Visual impairment
OMIM:613827	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613827	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:613827	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:613827	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613827	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:613827	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:613827	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613827	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:613827	TULP1	7287	HP:0000505	Visual impairment
OMIM:613827	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613827	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:613827	RHO	6010	HP:0000505	Visual impairment
OMIM:613827	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613827	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:613827	CA4	762	HP:0000505	Visual impairment
OMIM:613827	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613827	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:613827	CRB1	23418	HP:0000505	Visual impairment
OMIM:613827	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613827	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:613827	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613827	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613827	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:613827	ZNF513	130557	HP:0000505	Visual impairment
OMIM:613827	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613827	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:613827	CRX	1406	HP:0000505	Visual impairment
OMIM:188580	CACNA1S	779	HP:0000853	Goiter
OMIM:188580	CACNA1S	779	HP:0001324	Muscle weakness
OMIM:188580	CACNA1S	779	HP:0001425	Heterogeneous
OMIM:188580	CACNA1S	779	HP:0000836	Hyperthyroidism
OMIM:188580	CACNA1S	779	HP:0003201	Rhabdomyolysis
OMIM:188580	CACNA1S	779	HP:0001962	Palpitations
OMIM:188580	KCNJ18	100134444	HP:0000853	Goiter
OMIM:188580	KCNJ18	100134444	HP:0001324	Muscle weakness
OMIM:188580	KCNJ18	100134444	HP:0001425	Heterogeneous
OMIM:188580	KCNJ18	100134444	HP:0000836	Hyperthyroidism
OMIM:188580	KCNJ18	100134444	HP:0003201	Rhabdomyolysis
OMIM:188580	KCNJ18	100134444	HP:0001962	Palpitations
OMIM:188580	GABRA3	2556	HP:0000853	Goiter
OMIM:188580	GABRA3	2556	HP:0001324	Muscle weakness
OMIM:188580	GABRA3	2556	HP:0001425	Heterogeneous
OMIM:188580	GABRA3	2556	HP:0000836	Hyperthyroidism
OMIM:188580	GABRA3	2556	HP:0003201	Rhabdomyolysis
OMIM:188580	GABRA3	2556	HP:0001962	Palpitations
OMIM:168300	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:168300	SCN4A	6329	HP:0003712	Skeletal muscle hypertrophy
OMIM:168300	SCN4A	6329	HP:0001319	Neonatal hypotonia
OMIM:168300	SCN4A	6329	HP:0003326	Myalgia
OMIM:168300	SCN4A	6329	HP:0011968	Feeding difficulties
OMIM:168300	SCN4A	6329	HP:0003593	Infantile onset
OMIM:168300	SCN4A	6329	HP:0001324	Muscle weakness
OMIM:168300	SCN4A	6329	HP:0003812	Phenotypic variability
OMIM:212065	PMM2	5373	HP:0001371	Flexion contracture
OMIM:212065	PMM2	5373	HP:0002910	Elevated hepatic transaminases
OMIM:212065	PMM2	5373	HP:0003146	Hypocholesterolemia
OMIM:212065	PMM2	5373	HP:0001263	Global developmental delay
OMIM:212065	PMM2	5373	HP:0002013	Vomiting
OMIM:212065	PMM2	5373	HP:0000510	Rod-cone dystrophy
OMIM:212065	PMM2	5373	HP:0001252	Muscular hypotonia
OMIM:212065	PMM2	5373	HP:0000093	Proteinuria
OMIM:212065	PMM2	5373	HP:0001894	Thrombocytosis
OMIM:212065	PMM2	5373	HP:0011220	Prominent forehead
OMIM:212065	PMM2	5373	HP:0004315	IgG deficiency
OMIM:212065	PMM2	5373	HP:0000639	Nystagmus
OMIM:212065	PMM2	5373	HP:0000107	Renal cyst
OMIM:212065	PMM2	5373	HP:0000565	Esotropia
OMIM:212065	PMM2	5373	HP:0001271	Polyneuropathy
OMIM:212065	PMM2	5373	HP:0001251	Ataxia
OMIM:212065	PMM2	5373	HP:0002014	Diarrhea
OMIM:212065	PMM2	5373	HP:0003073	Hypoalbuminemia
OMIM:212065	PMM2	5373	HP:0001560	Abnormality of the amniotic fluid
OMIM:212065	PMM2	5373	HP:0000821	Hypothyroidism
OMIM:212065	PMM2	5373	HP:0001265	Hyporeflexia
OMIM:212065	PMM2	5373	HP:0000007	Autosomal recessive inheritance
OMIM:212065	PMM2	5373	HP:0000938	Osteopenia
OMIM:212065	PMM2	5373	HP:0001250	Seizures
OMIM:212065	PMM2	5373	HP:0001508	Failure to thrive
OMIM:212065	PMM2	5373	HP:0001638	Cardiomyopathy
OMIM:212065	PMM2	5373	HP:0002808	Kyphosis
OMIM:212065	PMM2	5373	HP:0000100	Nephrotic syndrome
OMIM:212065	PMM2	5373	HP:0000219	Thin upper lip vermilion
OMIM:212065	PMM2	5373	HP:0005280	Depressed nasal bridge
OMIM:212065	PMM2	5373	HP:0001397	Hepatic steatosis
OMIM:212065	PMM2	5373	HP:0000252	Microcephaly
OMIM:212065	PMM2	5373	HP:0001324	Muscle weakness
OMIM:212065	PMM2	5373	HP:0000815	Hypergonadotropic hypogonadism
OMIM:212065	PMM2	5373	HP:0000400	Macrotia
OMIM:212065	PMM2	5373	HP:0008872	Feeding difficulties in infancy
OMIM:212065	PMM2	5373	HP:0002240	Hepatomegaly
OMIM:212065	PMM2	5373	HP:0001395	Hepatic fibrosis
OMIM:614222	RAB3GAP1	22930	HP:0002120	Cerebral cortical atrophy
OMIM:614222	RAB3GAP1	22930	HP:0001371	Flexion contracture
OMIM:614222	RAB3GAP1	22930	HP:0011448	Ankle clonus
OMIM:614222	RAB3GAP1	22930	HP:0003196	Short nose
OMIM:614222	RAB3GAP1	22930	HP:0000581	Blepharophimosis
OMIM:614222	RAB3GAP1	22930	HP:0000248	Brachycephaly
OMIM:614222	RAB3GAP1	22930	HP:0000294	Low anterior hairline
OMIM:614222	RAB3GAP1	22930	HP:0005484	Postnatal microcephaly
OMIM:614222	RAB3GAP1	22930	HP:0008734	Decreased testicular size
OMIM:614222	RAB3GAP1	22930	HP:0008897	Postnatal growth retardation
OMIM:614222	RAB3GAP1	22930	HP:0002510	Spastic tetraplegia
OMIM:614222	RAB3GAP1	22930	HP:0002119	Ventriculomegaly
OMIM:614222	RAB3GAP1	22930	HP:0000046	Scrotal hypoplasia
OMIM:614222	RAB3GAP1	22930	HP:0002751	Kyphoscoliosis
OMIM:614222	RAB3GAP1	22930	HP:0000347	Micrognathia
OMIM:614222	RAB3GAP1	22930	HP:0000568	Microphthalmia
OMIM:614222	RAB3GAP1	22930	HP:0000648	Optic atrophy
OMIM:614222	RAB3GAP1	22930	HP:0002714	Downturned corners of mouth
OMIM:614222	RAB3GAP1	22930	HP:0000007	Autosomal recessive inheritance
OMIM:614222	RAB3GAP1	22930	HP:0008936	Muscular hypotonia of the trunk
OMIM:614222	RAB3GAP1	22930	HP:0000054	Micropenis
OMIM:614222	RAB3GAP1	22930	HP:0002126	Polymicrogyria
OMIM:614222	RAB3GAP1	22930	HP:0004209	Clinodactyly of the 5th finger
OMIM:614222	RAB3GAP1	22930	HP:0000400	Macrotia
OMIM:614222	RAB3GAP1	22930	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614222	RAB3GAP1	22930	HP:0002187	Intellectual disability, profound
OMIM:614222	RAB3GAP1	22930	HP:0000518	Cataract
OMIM:614222	RAB3GAP1	22930	HP:0000252	Microcephaly
OMIM:614222	RAB3GAP1	22930	HP:0000189	Narrow palate
OMIM:614222	RAB3GAP1	22930	HP:0000639	Nystagmus
OMIM:614222	RAB3GAP1	22930	HP:0000482	Microcornea
OMIM:614222	RAB3GAP1	22930	HP:0001250	Seizures
OMIM:614222	RAB18	22931	HP:0002120	Cerebral cortical atrophy
OMIM:614222	RAB18	22931	HP:0001371	Flexion contracture
OMIM:614222	RAB18	22931	HP:0011448	Ankle clonus
OMIM:614222	RAB18	22931	HP:0003196	Short nose
OMIM:614222	RAB18	22931	HP:0000581	Blepharophimosis
OMIM:614222	RAB18	22931	HP:0000248	Brachycephaly
OMIM:614222	RAB18	22931	HP:0000294	Low anterior hairline
OMIM:614222	RAB18	22931	HP:0005484	Postnatal microcephaly
OMIM:614222	RAB18	22931	HP:0008734	Decreased testicular size
OMIM:614222	RAB18	22931	HP:0008897	Postnatal growth retardation
OMIM:614222	RAB18	22931	HP:0002510	Spastic tetraplegia
OMIM:614222	RAB18	22931	HP:0002119	Ventriculomegaly
OMIM:614222	RAB18	22931	HP:0000046	Scrotal hypoplasia
OMIM:614222	RAB18	22931	HP:0002751	Kyphoscoliosis
OMIM:614222	RAB18	22931	HP:0000347	Micrognathia
OMIM:614222	RAB18	22931	HP:0000568	Microphthalmia
OMIM:614222	RAB18	22931	HP:0000648	Optic atrophy
OMIM:614222	RAB18	22931	HP:0002714	Downturned corners of mouth
OMIM:614222	RAB18	22931	HP:0000007	Autosomal recessive inheritance
OMIM:614222	RAB18	22931	HP:0008936	Muscular hypotonia of the trunk
OMIM:614222	RAB18	22931	HP:0000054	Micropenis
OMIM:614222	RAB18	22931	HP:0002126	Polymicrogyria
OMIM:614222	RAB18	22931	HP:0004209	Clinodactyly of the 5th finger
OMIM:614222	RAB18	22931	HP:0000400	Macrotia
OMIM:614222	RAB18	22931	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614222	RAB18	22931	HP:0002187	Intellectual disability, profound
OMIM:614222	RAB18	22931	HP:0000518	Cataract
OMIM:614222	RAB18	22931	HP:0000252	Microcephaly
OMIM:614222	RAB18	22931	HP:0000189	Narrow palate
OMIM:614222	RAB18	22931	HP:0000639	Nystagmus
OMIM:614222	RAB18	22931	HP:0000482	Microcornea
OMIM:614222	RAB18	22931	HP:0001250	Seizures
OMIM:614222	RAB3GAP2	25782	HP:0002120	Cerebral cortical atrophy
OMIM:614222	RAB3GAP2	25782	HP:0001371	Flexion contracture
OMIM:614222	RAB3GAP2	25782	HP:0011448	Ankle clonus
OMIM:614222	RAB3GAP2	25782	HP:0003196	Short nose
OMIM:614222	RAB3GAP2	25782	HP:0000581	Blepharophimosis
OMIM:614222	RAB3GAP2	25782	HP:0000248	Brachycephaly
OMIM:614222	RAB3GAP2	25782	HP:0000294	Low anterior hairline
OMIM:614222	RAB3GAP2	25782	HP:0005484	Postnatal microcephaly
OMIM:614222	RAB3GAP2	25782	HP:0008734	Decreased testicular size
OMIM:614222	RAB3GAP2	25782	HP:0008897	Postnatal growth retardation
OMIM:614222	RAB3GAP2	25782	HP:0002510	Spastic tetraplegia
OMIM:614222	RAB3GAP2	25782	HP:0002119	Ventriculomegaly
OMIM:614222	RAB3GAP2	25782	HP:0000046	Scrotal hypoplasia
OMIM:614222	RAB3GAP2	25782	HP:0002751	Kyphoscoliosis
OMIM:614222	RAB3GAP2	25782	HP:0000347	Micrognathia
OMIM:614222	RAB3GAP2	25782	HP:0000568	Microphthalmia
OMIM:614222	RAB3GAP2	25782	HP:0000648	Optic atrophy
OMIM:614222	RAB3GAP2	25782	HP:0002714	Downturned corners of mouth
OMIM:614222	RAB3GAP2	25782	HP:0000007	Autosomal recessive inheritance
OMIM:614222	RAB3GAP2	25782	HP:0008936	Muscular hypotonia of the trunk
OMIM:614222	RAB3GAP2	25782	HP:0000054	Micropenis
OMIM:614222	RAB3GAP2	25782	HP:0002126	Polymicrogyria
OMIM:614222	RAB3GAP2	25782	HP:0004209	Clinodactyly of the 5th finger
OMIM:614222	RAB3GAP2	25782	HP:0000400	Macrotia
OMIM:614222	RAB3GAP2	25782	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614222	RAB3GAP2	25782	HP:0002187	Intellectual disability, profound
OMIM:614222	RAB3GAP2	25782	HP:0000518	Cataract
OMIM:614222	RAB3GAP2	25782	HP:0000252	Microcephaly
OMIM:614222	RAB3GAP2	25782	HP:0000189	Narrow palate
OMIM:614222	RAB3GAP2	25782	HP:0000639	Nystagmus
OMIM:614222	RAB3GAP2	25782	HP:0000482	Microcornea
OMIM:614222	RAB3GAP2	25782	HP:0001250	Seizures
OMIM:614222	TBC1D20	128637	HP:0002120	Cerebral cortical atrophy
OMIM:614222	TBC1D20	128637	HP:0001371	Flexion contracture
OMIM:614222	TBC1D20	128637	HP:0011448	Ankle clonus
OMIM:614222	TBC1D20	128637	HP:0003196	Short nose
OMIM:614222	TBC1D20	128637	HP:0000581	Blepharophimosis
OMIM:614222	TBC1D20	128637	HP:0000248	Brachycephaly
OMIM:614222	TBC1D20	128637	HP:0000294	Low anterior hairline
OMIM:614222	TBC1D20	128637	HP:0005484	Postnatal microcephaly
OMIM:614222	TBC1D20	128637	HP:0008734	Decreased testicular size
OMIM:614222	TBC1D20	128637	HP:0008897	Postnatal growth retardation
OMIM:614222	TBC1D20	128637	HP:0002510	Spastic tetraplegia
OMIM:614222	TBC1D20	128637	HP:0002119	Ventriculomegaly
OMIM:614222	TBC1D20	128637	HP:0000046	Scrotal hypoplasia
OMIM:614222	TBC1D20	128637	HP:0002751	Kyphoscoliosis
OMIM:614222	TBC1D20	128637	HP:0000347	Micrognathia
OMIM:614222	TBC1D20	128637	HP:0000568	Microphthalmia
OMIM:614222	TBC1D20	128637	HP:0000648	Optic atrophy
OMIM:614222	TBC1D20	128637	HP:0002714	Downturned corners of mouth
OMIM:614222	TBC1D20	128637	HP:0000007	Autosomal recessive inheritance
OMIM:614222	TBC1D20	128637	HP:0008936	Muscular hypotonia of the trunk
OMIM:614222	TBC1D20	128637	HP:0000054	Micropenis
OMIM:614222	TBC1D20	128637	HP:0002126	Polymicrogyria
OMIM:614222	TBC1D20	128637	HP:0004209	Clinodactyly of the 5th finger
OMIM:614222	TBC1D20	128637	HP:0000400	Macrotia
OMIM:614222	TBC1D20	128637	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614222	TBC1D20	128637	HP:0002187	Intellectual disability, profound
OMIM:614222	TBC1D20	128637	HP:0000518	Cataract
OMIM:614222	TBC1D20	128637	HP:0000252	Microcephaly
OMIM:614222	TBC1D20	128637	HP:0000189	Narrow palate
OMIM:614222	TBC1D20	128637	HP:0000639	Nystagmus
OMIM:614222	TBC1D20	128637	HP:0000482	Microcornea
OMIM:614222	TBC1D20	128637	HP:0001250	Seizures
OMIM:603543	TP63	8626	HP:0002164	Nail dysplasia
OMIM:603543	TP63	8626	HP:0001171	Split hand
OMIM:603543	TP63	8626	HP:0001822	Hallux valgus
OMIM:603543	TP63	8626	HP:0009473	Joint contracture of the hand
OMIM:603543	TP63	8626	HP:0012385	Camptodactyly
OMIM:603543	TP63	8626	HP:0000175	Cleft palate
OMIM:603543	TP63	8626	HP:0000966	Hypohidrosis
OMIM:603543	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:603543	TP63	8626	HP:0001159	Syndactyly
OMIM:603543	TP63	8626	HP:0000193	Bifid uvula
OMIM:603543	TP63	8626	HP:0002557	Hypoplastic nipples
OMIM:603543	TP63	8626	HP:0000668	Hypodontia
OMIM:210370	CYP4V2	285440	HP:0000007	Autosomal recessive inheritance
OMIM:210370	CYP4V2	285440	HP:0000546	Retinal degeneration
OMIM:210370	CYP4V2	285440	HP:0000533	Chorioretinal atrophy
OMIM:210370	CYP4V2	285440	HP:0011003	Severe Myopia
OMIM:210370	CYP4V2	285440	HP:0000529	Progressive visual loss
OMIM:210370	CYP4V2	285440	HP:0001133	Constriction of peripheral visual field
OMIM:210370	CYP4V2	285440	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:601110	ALG3	10195	HP:0000486	Strabismus
OMIM:601110	ALG3	10195	HP:0100543	Cognitive impairment
OMIM:601110	ALG3	10195	HP:0000612	Iris coloboma
OMIM:601110	ALG3	10195	HP:0000431	Wide nasal bridge
OMIM:601110	ALG3	10195	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601110	ALG3	10195	HP:0009473	Joint contracture of the hand
OMIM:601110	ALG3	10195	HP:0000252	Microcephaly
OMIM:601110	ALG3	10195	HP:0002013	Vomiting
OMIM:601110	ALG3	10195	HP:0001252	Muscular hypotonia
OMIM:601110	ALG3	10195	HP:0001508	Failure to thrive
OMIM:601110	ALG3	10195	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:601110	ALG3	10195	HP:0100807	Long fingers
OMIM:601110	ALG3	10195	HP:0000193	Bifid uvula
OMIM:601110	ALG3	10195	HP:0000007	Autosomal recessive inheritance
OMIM:601110	ALG3	10195	HP:0001141	Severe visual impairment
OMIM:601110	ALG3	10195	HP:0000286	Epicanthus
OMIM:601110	ALG3	10195	HP:0001272	Cerebellar atrophy
OMIM:601110	ALG3	10195	HP:0011473	Villous atrophy
OMIM:601110	ALG3	10195	HP:0002521	Hypsarrhythmia
OMIM:601110	ALG3	10195	HP:0002164	Nail dysplasia
OMIM:601110	ALG3	10195	HP:0005280	Depressed nasal bridge
OMIM:601110	ALG3	10195	HP:0001347	Hyperreflexia
OMIM:601110	ALG3	10195	HP:0000648	Optic atrophy
OMIM:601110	ALG3	10195	HP:0001250	Seizures
OMIM:601110	ALG3	10195	HP:0001263	Global developmental delay
OMIM:601110	ALG3	10195	HP:0001276	Hypertonia
OMIM:601110	ALG3	10195	HP:0008936	Muscular hypotonia of the trunk
OMIM:601110	ALG3	10195	HP:0000218	High palate
OMIM:601110	ALG3	10195	HP:0001792	Small nail
OMIM:601110	ALG3	10195	HP:0002014	Diarrhea
OMIM:601110	ALG3	10195	HP:0000400	Macrotia
OMIM:601110	ALG3	10195	HP:0001762	Talipes equinovarus
OMIM:601110	ALG3	10195	HP:0001181	Adducted thumb
OMIM:601110	ALG3	10195	HP:0000414	Bulbous nose
OMIM:601110	ALG3	10195	HP:0000478	Abnormality of the eye
OMIM:601110	ALG3	10195	HP:0002059	Cerebral atrophy
OMIM:608808	GDF1	2657	HP:0001669	Transposition of the great arteries
OMIM:608808	MED13L	23389	HP:0001669	Transposition of the great arteries
OMIM:608808	CFC1	55997	HP:0001669	Transposition of the great arteries
OMIM:604379	RPL21	6144	HP:0000653	Sparse eyelashes
OMIM:604379	RPL21	6144	HP:0000535	Sparse eyebrow
OMIM:604379	RPL21	6144	HP:0002224	Woolly hair
OMIM:604379	RPL21	6144	HP:0000007	Autosomal recessive inheritance
OMIM:604379	LPAR6	10161	HP:0000653	Sparse eyelashes
OMIM:604379	LPAR6	10161	HP:0000535	Sparse eyebrow
OMIM:604379	LPAR6	10161	HP:0002224	Woolly hair
OMIM:604379	LPAR6	10161	HP:0000007	Autosomal recessive inheritance
OMIM:604379	DSG4	147409	HP:0000653	Sparse eyelashes
OMIM:604379	DSG4	147409	HP:0000535	Sparse eyebrow
OMIM:604379	DSG4	147409	HP:0002224	Woolly hair
OMIM:604379	DSG4	147409	HP:0000007	Autosomal recessive inheritance
OMIM:604379	KRT71	112802	HP:0000653	Sparse eyelashes
OMIM:604379	KRT71	112802	HP:0000535	Sparse eyebrow
OMIM:604379	KRT71	112802	HP:0002224	Woolly hair
OMIM:604379	KRT71	112802	HP:0000007	Autosomal recessive inheritance
OMIM:604379	APCDD1	147495	HP:0000653	Sparse eyelashes
OMIM:604379	APCDD1	147495	HP:0000535	Sparse eyebrow
OMIM:604379	APCDD1	147495	HP:0002224	Woolly hair
OMIM:604379	APCDD1	147495	HP:0000007	Autosomal recessive inheritance
OMIM:604379	SNRPE	6635	HP:0000653	Sparse eyelashes
OMIM:604379	SNRPE	6635	HP:0000535	Sparse eyebrow
OMIM:604379	SNRPE	6635	HP:0002224	Woolly hair
OMIM:604379	SNRPE	6635	HP:0000007	Autosomal recessive inheritance
OMIM:604379	LIPH	200879	HP:0000653	Sparse eyelashes
OMIM:604379	LIPH	200879	HP:0000535	Sparse eyebrow
OMIM:604379	LIPH	200879	HP:0002224	Woolly hair
OMIM:604379	LIPH	200879	HP:0000007	Autosomal recessive inheritance
OMIM:604379	KRT74	121391	HP:0000653	Sparse eyelashes
OMIM:604379	KRT74	121391	HP:0000535	Sparse eyebrow
OMIM:604379	KRT74	121391	HP:0002224	Woolly hair
OMIM:604379	KRT74	121391	HP:0000007	Autosomal recessive inheritance
OMIM:614844	ZNF423	23090	HP:0000007	Autosomal recessive inheritance
OMIM:614844	ZNF423	23090	HP:0001696	Situs inversus totalis
OMIM:614844	ZNF423	23090	HP:0000113	Polycystic kidney dysplasia
OMIM:614844	ZNF423	23090	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614844	ZNF423	23090	HP:0000090	Nephronophthisis
OMIM:614844	ZNF423	23090	HP:0003812	Phenotypic variability
OMIM:614844	ZNF423	23090	HP:0000546	Retinal degeneration
OMIM:614844	ZNF423	23090	HP:0000006	Autosomal dominant inheritance
OMIM:614844	TMEM138	51524	HP:0000007	Autosomal recessive inheritance
OMIM:614844	TMEM138	51524	HP:0001696	Situs inversus totalis
OMIM:614844	TMEM138	51524	HP:0000113	Polycystic kidney dysplasia
OMIM:614844	TMEM138	51524	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614844	TMEM138	51524	HP:0000090	Nephronophthisis
OMIM:614844	TMEM138	51524	HP:0003812	Phenotypic variability
OMIM:614844	TMEM138	51524	HP:0000546	Retinal degeneration
OMIM:614844	TMEM138	51524	HP:0000006	Autosomal dominant inheritance
OMIM:614844	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:614844	TMEM237	65062	HP:0001696	Situs inversus totalis
OMIM:614844	TMEM237	65062	HP:0000113	Polycystic kidney dysplasia
OMIM:614844	TMEM237	65062	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614844	TMEM237	65062	HP:0000090	Nephronophthisis
OMIM:614844	TMEM237	65062	HP:0003812	Phenotypic variability
OMIM:614844	TMEM237	65062	HP:0000546	Retinal degeneration
OMIM:614844	TMEM237	65062	HP:0000006	Autosomal dominant inheritance
OMIM:614844	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:614844	CEP290	80184	HP:0001696	Situs inversus totalis
OMIM:614844	CEP290	80184	HP:0000113	Polycystic kidney dysplasia
OMIM:614844	CEP290	80184	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614844	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:614844	CEP290	80184	HP:0003812	Phenotypic variability
OMIM:614844	CEP290	80184	HP:0000546	Retinal degeneration
OMIM:614844	CEP290	80184	HP:0000006	Autosomal dominant inheritance
OMIM:614844	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:614844	CC2D2A	57545	HP:0001696	Situs inversus totalis
OMIM:614844	CC2D2A	57545	HP:0000113	Polycystic kidney dysplasia
OMIM:614844	CC2D2A	57545	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614844	CC2D2A	57545	HP:0000090	Nephronophthisis
OMIM:614844	CC2D2A	57545	HP:0003812	Phenotypic variability
OMIM:614844	CC2D2A	57545	HP:0000546	Retinal degeneration
OMIM:614844	CC2D2A	57545	HP:0000006	Autosomal dominant inheritance
OMIM:614844	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:614844	TMEM216	51259	HP:0001696	Situs inversus totalis
OMIM:614844	TMEM216	51259	HP:0000113	Polycystic kidney dysplasia
OMIM:614844	TMEM216	51259	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614844	TMEM216	51259	HP:0000090	Nephronophthisis
OMIM:614844	TMEM216	51259	HP:0003812	Phenotypic variability
OMIM:614844	TMEM216	51259	HP:0000546	Retinal degeneration
OMIM:614844	TMEM216	51259	HP:0000006	Autosomal dominant inheritance
OMIM:614844	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:614844	TMEM231	79583	HP:0001696	Situs inversus totalis
OMIM:614844	TMEM231	79583	HP:0000113	Polycystic kidney dysplasia
OMIM:614844	TMEM231	79583	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614844	TMEM231	79583	HP:0000090	Nephronophthisis
OMIM:614844	TMEM231	79583	HP:0003812	Phenotypic variability
OMIM:614844	TMEM231	79583	HP:0000546	Retinal degeneration
OMIM:614844	TMEM231	79583	HP:0000006	Autosomal dominant inheritance
OMIM:615522	ENPP1	5167	HP:0000962	Hyperkeratosis
OMIM:615522	ENPP1	5167	HP:0000006	Autosomal dominant inheritance
OMIM:302350	NHS	4810	HP:0000541	Retinal detachment
OMIM:302350	NHS	4810	HP:0000275	Narrow face
OMIM:302350	NHS	4810	HP:0000501	Glaucoma
OMIM:302350	NHS	4810	HP:0001500	Broad finger
OMIM:302350	NHS	4810	HP:0000448	Prominent nose
OMIM:302350	NHS	4810	HP:0000482	Microcornea
OMIM:302350	NHS	4810	HP:0000568	Microphthalmia
OMIM:302350	NHS	4810	HP:0100543	Cognitive impairment
OMIM:302350	NHS	4810	HP:0000708	Behavioral abnormality
OMIM:302350	NHS	4810	HP:0000639	Nystagmus
OMIM:302350	NHS	4810	HP:0000717	Autism
OMIM:302350	NHS	4810	HP:0000303	Mandibular prognathia
OMIM:302350	NHS	4810	HP:0000426	Prominent nasal bridge
OMIM:302350	NHS	4810	HP:0001423	X-linked dominant inheritance
OMIM:302350	NHS	4810	HP:0005105	Abnormal nasal morphology
OMIM:302350	NHS	4810	HP:0000400	Macrotia
OMIM:302350	NHS	4810	HP:0000519	Congenital cataract
OMIM:302350	NHS	4810	HP:0000518	Cataract
OMIM:302350	NHS	4810	HP:0002342	Intellectual disability, moderate
OMIM:302350	NHS	4810	HP:0000486	Strabismus
OMIM:302350	NHS	4810	HP:0000505	Visual impairment
OMIM:302350	NHS	4810	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:302350	NHS	4810	HP:0000276	Long face
OMIM:302350	NHS	4810	HP:0001163	Abnormality of the metacarpal bones
OMIM:302350	NHS	4810	HP:0009803	Short phalanx of finger
OMIM:302350	NHS	4810	HP:0000572	Visual loss
OMIM:613151	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:613151	POMT2	29954	HP:0000252	Microcephaly
OMIM:613151	POMT2	29954	HP:0000486	Strabismus
OMIM:613151	POMT2	29954	HP:0003741	Congenital muscular dystrophy
OMIM:613151	POMT2	29954	HP:0000545	Myopia
OMIM:613151	POMT2	29954	HP:0002350	Cerebellar cyst
OMIM:613151	POMT2	29954	HP:0003577	Congenital onset
OMIM:613151	POMT2	29954	HP:0002119	Ventriculomegaly
OMIM:613151	POMT2	29954	HP:0001249	Intellectual disability
OMIM:613151	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613151	POMT2	29954	HP:0012110	Hypoplasia of the pons
OMIM:613151	POMT2	29954	HP:0000648	Optic atrophy
OMIM:613151	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:613151	POMT2	29954	HP:0001270	Motor delay
OMIM:613151	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:613151	GMPPB	29925	HP:0000252	Microcephaly
OMIM:613151	GMPPB	29925	HP:0000486	Strabismus
OMIM:613151	GMPPB	29925	HP:0003741	Congenital muscular dystrophy
OMIM:613151	GMPPB	29925	HP:0000545	Myopia
OMIM:613151	GMPPB	29925	HP:0002350	Cerebellar cyst
OMIM:613151	GMPPB	29925	HP:0003577	Congenital onset
OMIM:613151	GMPPB	29925	HP:0002119	Ventriculomegaly
OMIM:613151	GMPPB	29925	HP:0001249	Intellectual disability
OMIM:613151	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613151	GMPPB	29925	HP:0012110	Hypoplasia of the pons
OMIM:613151	GMPPB	29925	HP:0000648	Optic atrophy
OMIM:613151	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:613151	GMPPB	29925	HP:0001270	Motor delay
OMIM:613151	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:613151	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:613151	POMGNT1	55624	HP:0000486	Strabismus
OMIM:613151	POMGNT1	55624	HP:0003741	Congenital muscular dystrophy
OMIM:613151	POMGNT1	55624	HP:0000545	Myopia
OMIM:613151	POMGNT1	55624	HP:0002350	Cerebellar cyst
OMIM:613151	POMGNT1	55624	HP:0003577	Congenital onset
OMIM:613151	POMGNT1	55624	HP:0002119	Ventriculomegaly
OMIM:613151	POMGNT1	55624	HP:0001249	Intellectual disability
OMIM:613151	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613151	POMGNT1	55624	HP:0012110	Hypoplasia of the pons
OMIM:613151	POMGNT1	55624	HP:0000648	Optic atrophy
OMIM:613151	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:613151	POMGNT1	55624	HP:0001270	Motor delay
OMIM:613151	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:613151	POMT1	10585	HP:0000252	Microcephaly
OMIM:613151	POMT1	10585	HP:0000486	Strabismus
OMIM:613151	POMT1	10585	HP:0003741	Congenital muscular dystrophy
OMIM:613151	POMT1	10585	HP:0000545	Myopia
OMIM:613151	POMT1	10585	HP:0002350	Cerebellar cyst
OMIM:613151	POMT1	10585	HP:0003577	Congenital onset
OMIM:613151	POMT1	10585	HP:0002119	Ventriculomegaly
OMIM:613151	POMT1	10585	HP:0001249	Intellectual disability
OMIM:613151	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613151	POMT1	10585	HP:0012110	Hypoplasia of the pons
OMIM:613151	POMT1	10585	HP:0000648	Optic atrophy
OMIM:613151	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:613151	POMT1	10585	HP:0001270	Motor delay
OMIM:613151	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:613151	FKRP	79147	HP:0000252	Microcephaly
OMIM:613151	FKRP	79147	HP:0000486	Strabismus
OMIM:613151	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:613151	FKRP	79147	HP:0000545	Myopia
OMIM:613151	FKRP	79147	HP:0002350	Cerebellar cyst
OMIM:613151	FKRP	79147	HP:0003577	Congenital onset
OMIM:613151	FKRP	79147	HP:0002119	Ventriculomegaly
OMIM:613151	FKRP	79147	HP:0001249	Intellectual disability
OMIM:613151	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613151	FKRP	79147	HP:0012110	Hypoplasia of the pons
OMIM:613151	FKRP	79147	HP:0000648	Optic atrophy
OMIM:613151	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:613151	FKRP	79147	HP:0001270	Motor delay
OMIM:131440	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:131440	PDGFRB	5159	HP:0005547	Myeloproliferative disorder
OMIM:131440	PDGFRB	5159	HP:0001880	Eosinophilia
OMIM:616032	ANLN	54443	HP:0000093	Proteinuria
OMIM:616032	ANLN	54443	HP:0000097	Focal segmental glomerulosclerosis
OMIM:616032	ANLN	54443	HP:0003774	Stage 5 chronic kidney disease
OMIM:616032	ANLN	54443	HP:0000100	Nephrotic syndrome
OMIM:186770	TLX1	3195	HP:0000006	Autosomal dominant inheritance
OMIM:186770	TLX1	3195	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:309583	SMS	6611	HP:0000193	Bifid uvula
OMIM:309583	SMS	6611	HP:0100807	Long fingers
OMIM:309583	SMS	6611	HP:0000678	Dental crowding
OMIM:309583	SMS	6611	HP:0000175	Cleft palate
OMIM:309583	SMS	6611	HP:0001249	Intellectual disability
OMIM:309583	SMS	6611	HP:0000377	Abnormality of the pinna
OMIM:309583	SMS	6611	HP:0003812	Phenotypic variability
OMIM:309583	SMS	6611	HP:0000939	Osteoporosis
OMIM:309583	SMS	6611	HP:0011003	Severe Myopia
OMIM:309583	SMS	6611	HP:0000768	Pectus carinatum
OMIM:309583	SMS	6611	HP:0002751	Kyphoscoliosis
OMIM:309583	SMS	6611	HP:0001762	Talipes equinovarus
OMIM:309583	SMS	6611	HP:0000316	Hypertelorism
OMIM:309583	SMS	6611	HP:0001419	X-linked recessive inheritance
OMIM:309583	SMS	6611	HP:0006610	Wide intermamillary distance
OMIM:309583	SMS	6611	HP:0001250	Seizures
OMIM:309583	SMS	6611	HP:0000322	Short philtrum
OMIM:309583	SMS	6611	HP:0000028	Cryptorchidism
OMIM:309583	SMS	6611	HP:0004322	Short stature
OMIM:309583	SMS	6611	HP:0000767	Pectus excavatum
OMIM:309583	SMS	6611	HP:0000324	Facial asymmetry
OMIM:309583	SMS	6611	HP:0002757	Recurrent fractures
OMIM:309583	SMS	6611	HP:0000303	Mandibular prognathia
OMIM:309583	SMS	6611	HP:0001260	Dysarthria
OMIM:309583	SMS	6611	HP:0001611	Nasal speech
OMIM:309583	SMS	6611	HP:0000098	Tall stature
OMIM:309583	SMS	6611	HP:0001252	Muscular hypotonia
OMIM:309583	SMS	6611	HP:0000465	Webbed neck
OMIM:309583	SMS	6611	HP:0000179	Thick lower lip vermilion
OMIM:613659	ERBB2	2064	HP:0001428	Somatic mutation
OMIM:613659	MUTYH	4595	HP:0001428	Somatic mutation
OMIM:613659	APC	324	HP:0001428	Somatic mutation
OMIM:613659	KLF6	1316	HP:0001428	Somatic mutation
OMIM:613659	FGFR2	2263	HP:0001428	Somatic mutation
OMIM:613659	PIK3CA	5290	HP:0001428	Somatic mutation
OMIM:613659	CASP10	843	HP:0001428	Somatic mutation
OMIM:613659	IRF1	3659	HP:0001428	Somatic mutation
OMIM:614337	PMS1	5378	HP:0000006	Autosomal dominant inheritance
OMIM:614337	PMS1	5378	HP:0100615	Ovarian neoplasm
OMIM:614337	MLH1	4292	HP:0000006	Autosomal dominant inheritance
OMIM:614337	MLH1	4292	HP:0100615	Ovarian neoplasm
OMIM:614337	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:614337	KRAS	3845	HP:0100615	Ovarian neoplasm
OMIM:614337	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:614337	TGFBR2	7048	HP:0100615	Ovarian neoplasm
OMIM:614337	EPCAM	4072	HP:0000006	Autosomal dominant inheritance
OMIM:614337	EPCAM	4072	HP:0100615	Ovarian neoplasm
OMIM:614337	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:614337	PIK3CA	5290	HP:0100615	Ovarian neoplasm
OMIM:614337	MSH6	2956	HP:0000006	Autosomal dominant inheritance
OMIM:614337	MSH6	2956	HP:0100615	Ovarian neoplasm
OMIM:614337	RPS20	6224	HP:0000006	Autosomal dominant inheritance
OMIM:614337	RPS20	6224	HP:0100615	Ovarian neoplasm
OMIM:614337	BMPR1A	657	HP:0000006	Autosomal dominant inheritance
OMIM:614337	BMPR1A	657	HP:0100615	Ovarian neoplasm
OMIM:614337	PMS2	5395	HP:0000006	Autosomal dominant inheritance
OMIM:614337	PMS2	5395	HP:0100615	Ovarian neoplasm
OMIM:614337	MSH2	4436	HP:0000006	Autosomal dominant inheritance
OMIM:614337	MSH2	4436	HP:0100615	Ovarian neoplasm
OMIM:614337	MLH3	27030	HP:0000006	Autosomal dominant inheritance
OMIM:614337	MLH3	27030	HP:0100615	Ovarian neoplasm
OMIM:614337	LRRFIP2	9209	HP:0000006	Autosomal dominant inheritance
OMIM:614337	LRRFIP2	9209	HP:0100615	Ovarian neoplasm
OMIM:187395	TDGF1	6997	HP:0002079	Hypoplasia of the corpus callosum
OMIM:187395	TDGF1	6997	HP:0001263	Global developmental delay
OMIM:187395	TDGF1	6997	HP:0000252	Microcephaly
ORPHANET:588	POMT2	29954	HP:0001276	Hypertonia
ORPHANET:588	POMT2	29954	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:588	POMT2	29954	HP:0000501	Glaucoma
ORPHANET:588	POMT2	29954	HP:0001608	Abnormality of the voice
ORPHANET:588	POMT2	29954	HP:0001288	Gait disturbance
ORPHANET:588	POMT2	29954	HP:0000648	Optic atrophy
ORPHANET:588	POMT2	29954	HP:0002167	Neurological speech impairment
ORPHANET:588	POMT2	29954	HP:0000238	Hydrocephalus
ORPHANET:588	POMT2	29954	HP:0000518	Cataract
ORPHANET:588	POMT2	29954	HP:0003457	EMG abnormality
ORPHANET:588	POMT2	29954	HP:0000486	Strabismus
ORPHANET:588	POMT2	29954	HP:0000505	Visual impairment
ORPHANET:588	POMT2	29954	HP:0002435	Meningocele
ORPHANET:588	POMT2	29954	HP:0001250	Seizures
ORPHANET:588	POMT2	29954	HP:0003198	Myopathy
ORPHANET:588	POMT2	29954	HP:0001360	Holoprosencephaly
ORPHANET:588	POMT2	29954	HP:0100543	Cognitive impairment
ORPHANET:588	POMT2	29954	HP:0001252	Muscular hypotonia
ORPHANET:588	POMT2	29954	HP:0002353	EEG abnormality
ORPHANET:588	POMT2	29954	HP:0000545	Myopia
ORPHANET:588	POMT2	29954	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:588	GMPPB	29925	HP:0001276	Hypertonia
ORPHANET:588	GMPPB	29925	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:588	GMPPB	29925	HP:0000501	Glaucoma
ORPHANET:588	GMPPB	29925	HP:0001608	Abnormality of the voice
ORPHANET:588	GMPPB	29925	HP:0001288	Gait disturbance
ORPHANET:588	GMPPB	29925	HP:0000648	Optic atrophy
ORPHANET:588	GMPPB	29925	HP:0002167	Neurological speech impairment
ORPHANET:588	GMPPB	29925	HP:0000238	Hydrocephalus
ORPHANET:588	GMPPB	29925	HP:0000518	Cataract
ORPHANET:588	GMPPB	29925	HP:0003457	EMG abnormality
ORPHANET:588	GMPPB	29925	HP:0000486	Strabismus
ORPHANET:588	GMPPB	29925	HP:0000505	Visual impairment
ORPHANET:588	GMPPB	29925	HP:0002435	Meningocele
ORPHANET:588	GMPPB	29925	HP:0001250	Seizures
ORPHANET:588	GMPPB	29925	HP:0003198	Myopathy
ORPHANET:588	GMPPB	29925	HP:0001360	Holoprosencephaly
ORPHANET:588	GMPPB	29925	HP:0100543	Cognitive impairment
ORPHANET:588	GMPPB	29925	HP:0001252	Muscular hypotonia
ORPHANET:588	GMPPB	29925	HP:0002353	EEG abnormality
ORPHANET:588	GMPPB	29925	HP:0000545	Myopia
ORPHANET:588	GMPPB	29925	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:588	B3GALNT2	148789	HP:0001276	Hypertonia
ORPHANET:588	B3GALNT2	148789	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:588	B3GALNT2	148789	HP:0000501	Glaucoma
ORPHANET:588	B3GALNT2	148789	HP:0001608	Abnormality of the voice
ORPHANET:588	B3GALNT2	148789	HP:0001288	Gait disturbance
ORPHANET:588	B3GALNT2	148789	HP:0000648	Optic atrophy
ORPHANET:588	B3GALNT2	148789	HP:0002167	Neurological speech impairment
ORPHANET:588	B3GALNT2	148789	HP:0000238	Hydrocephalus
ORPHANET:588	B3GALNT2	148789	HP:0000518	Cataract
ORPHANET:588	B3GALNT2	148789	HP:0003457	EMG abnormality
ORPHANET:588	B3GALNT2	148789	HP:0000486	Strabismus
ORPHANET:588	B3GALNT2	148789	HP:0000505	Visual impairment
ORPHANET:588	B3GALNT2	148789	HP:0002435	Meningocele
ORPHANET:588	B3GALNT2	148789	HP:0001250	Seizures
ORPHANET:588	B3GALNT2	148789	HP:0003198	Myopathy
ORPHANET:588	B3GALNT2	148789	HP:0001360	Holoprosencephaly
ORPHANET:588	B3GALNT2	148789	HP:0100543	Cognitive impairment
ORPHANET:588	B3GALNT2	148789	HP:0001252	Muscular hypotonia
ORPHANET:588	B3GALNT2	148789	HP:0002353	EEG abnormality
ORPHANET:588	B3GALNT2	148789	HP:0000545	Myopia
ORPHANET:588	B3GALNT2	148789	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:588	POMGNT1	55624	HP:0001276	Hypertonia
ORPHANET:588	POMGNT1	55624	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:588	POMGNT1	55624	HP:0000501	Glaucoma
ORPHANET:588	POMGNT1	55624	HP:0001608	Abnormality of the voice
ORPHANET:588	POMGNT1	55624	HP:0001288	Gait disturbance
ORPHANET:588	POMGNT1	55624	HP:0000648	Optic atrophy
ORPHANET:588	POMGNT1	55624	HP:0002167	Neurological speech impairment
ORPHANET:588	POMGNT1	55624	HP:0000238	Hydrocephalus
ORPHANET:588	POMGNT1	55624	HP:0000518	Cataract
ORPHANET:588	POMGNT1	55624	HP:0003457	EMG abnormality
ORPHANET:588	POMGNT1	55624	HP:0000486	Strabismus
ORPHANET:588	POMGNT1	55624	HP:0000505	Visual impairment
ORPHANET:588	POMGNT1	55624	HP:0002435	Meningocele
ORPHANET:588	POMGNT1	55624	HP:0001250	Seizures
ORPHANET:588	POMGNT1	55624	HP:0003198	Myopathy
ORPHANET:588	POMGNT1	55624	HP:0001360	Holoprosencephaly
ORPHANET:588	POMGNT1	55624	HP:0100543	Cognitive impairment
ORPHANET:588	POMGNT1	55624	HP:0001252	Muscular hypotonia
ORPHANET:588	POMGNT1	55624	HP:0002353	EEG abnormality
ORPHANET:588	POMGNT1	55624	HP:0000545	Myopia
ORPHANET:588	POMGNT1	55624	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:588	POMT1	10585	HP:0001276	Hypertonia
ORPHANET:588	POMT1	10585	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:588	POMT1	10585	HP:0000501	Glaucoma
ORPHANET:588	POMT1	10585	HP:0001608	Abnormality of the voice
ORPHANET:588	POMT1	10585	HP:0001288	Gait disturbance
ORPHANET:588	POMT1	10585	HP:0000648	Optic atrophy
ORPHANET:588	POMT1	10585	HP:0002167	Neurological speech impairment
ORPHANET:588	POMT1	10585	HP:0000238	Hydrocephalus
ORPHANET:588	POMT1	10585	HP:0000518	Cataract
ORPHANET:588	POMT1	10585	HP:0003457	EMG abnormality
ORPHANET:588	POMT1	10585	HP:0000486	Strabismus
ORPHANET:588	POMT1	10585	HP:0000505	Visual impairment
ORPHANET:588	POMT1	10585	HP:0002435	Meningocele
ORPHANET:588	POMT1	10585	HP:0001250	Seizures
ORPHANET:588	POMT1	10585	HP:0003198	Myopathy
ORPHANET:588	POMT1	10585	HP:0001360	Holoprosencephaly
ORPHANET:588	POMT1	10585	HP:0100543	Cognitive impairment
ORPHANET:588	POMT1	10585	HP:0001252	Muscular hypotonia
ORPHANET:588	POMT1	10585	HP:0002353	EEG abnormality
ORPHANET:588	POMT1	10585	HP:0000545	Myopia
ORPHANET:588	POMT1	10585	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:588	FKTN	2218	HP:0001276	Hypertonia
ORPHANET:588	FKTN	2218	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:588	FKTN	2218	HP:0000501	Glaucoma
ORPHANET:588	FKTN	2218	HP:0001608	Abnormality of the voice
ORPHANET:588	FKTN	2218	HP:0001288	Gait disturbance
ORPHANET:588	FKTN	2218	HP:0000648	Optic atrophy
ORPHANET:588	FKTN	2218	HP:0002167	Neurological speech impairment
ORPHANET:588	FKTN	2218	HP:0000238	Hydrocephalus
ORPHANET:588	FKTN	2218	HP:0000518	Cataract
ORPHANET:588	FKTN	2218	HP:0003457	EMG abnormality
ORPHANET:588	FKTN	2218	HP:0000486	Strabismus
ORPHANET:588	FKTN	2218	HP:0000505	Visual impairment
ORPHANET:588	FKTN	2218	HP:0002435	Meningocele
ORPHANET:588	FKTN	2218	HP:0001250	Seizures
ORPHANET:588	FKTN	2218	HP:0003198	Myopathy
ORPHANET:588	FKTN	2218	HP:0001360	Holoprosencephaly
ORPHANET:588	FKTN	2218	HP:0100543	Cognitive impairment
ORPHANET:588	FKTN	2218	HP:0001252	Muscular hypotonia
ORPHANET:588	FKTN	2218	HP:0002353	EEG abnormality
ORPHANET:588	FKTN	2218	HP:0000545	Myopia
ORPHANET:588	FKTN	2218	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:588	FKRP	79147	HP:0001276	Hypertonia
ORPHANET:588	FKRP	79147	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:588	FKRP	79147	HP:0000501	Glaucoma
ORPHANET:588	FKRP	79147	HP:0001608	Abnormality of the voice
ORPHANET:588	FKRP	79147	HP:0001288	Gait disturbance
ORPHANET:588	FKRP	79147	HP:0000648	Optic atrophy
ORPHANET:588	FKRP	79147	HP:0002167	Neurological speech impairment
ORPHANET:588	FKRP	79147	HP:0000238	Hydrocephalus
ORPHANET:588	FKRP	79147	HP:0000518	Cataract
ORPHANET:588	FKRP	79147	HP:0003457	EMG abnormality
ORPHANET:588	FKRP	79147	HP:0000486	Strabismus
ORPHANET:588	FKRP	79147	HP:0000505	Visual impairment
ORPHANET:588	FKRP	79147	HP:0002435	Meningocele
ORPHANET:588	FKRP	79147	HP:0001250	Seizures
ORPHANET:588	FKRP	79147	HP:0003198	Myopathy
ORPHANET:588	FKRP	79147	HP:0001360	Holoprosencephaly
ORPHANET:588	FKRP	79147	HP:0100543	Cognitive impairment
ORPHANET:588	FKRP	79147	HP:0001252	Muscular hypotonia
ORPHANET:588	FKRP	79147	HP:0002353	EEG abnormality
ORPHANET:588	FKRP	79147	HP:0000545	Myopia
ORPHANET:588	FKRP	79147	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:588	LARGE	9215	HP:0001276	Hypertonia
ORPHANET:588	LARGE	9215	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:588	LARGE	9215	HP:0000501	Glaucoma
ORPHANET:588	LARGE	9215	HP:0001608	Abnormality of the voice
ORPHANET:588	LARGE	9215	HP:0001288	Gait disturbance
ORPHANET:588	LARGE	9215	HP:0000648	Optic atrophy
ORPHANET:588	LARGE	9215	HP:0002167	Neurological speech impairment
ORPHANET:588	LARGE	9215	HP:0000238	Hydrocephalus
ORPHANET:588	LARGE	9215	HP:0000518	Cataract
ORPHANET:588	LARGE	9215	HP:0003457	EMG abnormality
ORPHANET:588	LARGE	9215	HP:0000486	Strabismus
ORPHANET:588	LARGE	9215	HP:0000505	Visual impairment
ORPHANET:588	LARGE	9215	HP:0002435	Meningocele
ORPHANET:588	LARGE	9215	HP:0001250	Seizures
ORPHANET:588	LARGE	9215	HP:0003198	Myopathy
ORPHANET:588	LARGE	9215	HP:0001360	Holoprosencephaly
ORPHANET:588	LARGE	9215	HP:0100543	Cognitive impairment
ORPHANET:588	LARGE	9215	HP:0001252	Muscular hypotonia
ORPHANET:588	LARGE	9215	HP:0002353	EEG abnormality
ORPHANET:588	LARGE	9215	HP:0000545	Myopia
ORPHANET:588	LARGE	9215	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:251260	NBN	4683	HP:0000347	Micrognathia
OMIM:251260	NBN	4683	HP:0002205	Recurrent respiratory infections
OMIM:251260	NBN	4683	HP:0002023	Anal atresia
OMIM:251260	NBN	4683	HP:0002885	Medulloblastoma
OMIM:251260	NBN	4683	HP:0004322	Short stature
OMIM:251260	NBN	4683	HP:0000752	Hyperactivity
OMIM:251260	NBN	4683	HP:0011362	Abnormal hair quantity
OMIM:251260	NBN	4683	HP:0000204	Cleft upper lip
OMIM:251260	NBN	4683	HP:0009733	Glioma
OMIM:251260	NBN	4683	HP:0000007	Autosomal recessive inheritance
OMIM:251260	NBN	4683	HP:0000340	Sloping forehead
OMIM:251260	NBN	4683	HP:0005403	T lymphocytopenia
OMIM:251260	NBN	4683	HP:0000444	Convex nasal ridge
OMIM:251260	NBN	4683	HP:0000388	Otitis media
OMIM:251260	NBN	4683	HP:0000364	Hearing abnormality
OMIM:251260	NBN	4683	HP:0000175	Cleft palate
OMIM:251260	NBN	4683	HP:0002665	Lymphoma
OMIM:251260	NBN	4683	HP:0000252	Microcephaly
OMIM:251260	NBN	4683	HP:0000246	Sinusitis
OMIM:251260	NBN	4683	HP:0000400	Macrotia
OMIM:251260	NBN	4683	HP:0000294	Low anterior hairline
OMIM:251260	NBN	4683	HP:0003220	Abnormality of chromosome stability
OMIM:251260	NBN	4683	HP:0002025	Anal stenosis
OMIM:251260	NBN	4683	HP:0005105	Abnormal nasal morphology
OMIM:251260	NBN	4683	HP:0010515	Aplasia/Hypoplasia of the thymus
OMIM:251260	NBN	4683	HP:0002093	Respiratory insufficiency
OMIM:251260	NBN	4683	HP:0000010	Recurrent urinary tract infections
OMIM:251260	NBN	4683	HP:0001324	Muscle weakness
OMIM:251260	NBN	4683	HP:0100335	Non-midline cleft lip
OMIM:251260	NBN	4683	HP:0001249	Intellectual disability
OMIM:251260	NBN	4683	HP:0001511	Intrauterine growth retardation
OMIM:251260	NBN	4683	HP:0000582	Upslanted palpebral fissure
OMIM:251260	NBN	4683	HP:0100543	Cognitive impairment
OMIM:251260	NBN	4683	HP:0002024	Malabsorption
OMIM:251260	NBN	4683	HP:0002110	Bronchiectasis
OMIM:251260	NBN	4683	HP:0004325	Decreased body weight
OMIM:251260	NBN	4683	HP:0010935	Abnormality of the upper urinary tract
OMIM:251260	NBN	4683	HP:0001878	Hemolytic anemia
OMIM:251260	NBN	4683	HP:0005280	Depressed nasal bridge
OMIM:251260	NBN	4683	HP:0001873	Thrombocytopenia
OMIM:251260	NBN	4683	HP:0007018	Attention deficit hyperactivity disorder
OMIM:251260	NBN	4683	HP:0002180	Neurodegeneration
OMIM:251260	NBN	4683	HP:0000470	Short neck
OMIM:251260	NBN	4683	HP:0001480	Freckling
OMIM:251260	NBN	4683	HP:0010976	B lymphocytopenia
OMIM:251260	NBN	4683	HP:0000126	Hydronephrosis
OMIM:251260	NBN	4683	HP:0010701	Abnormal immunoglobulin level
OMIM:251260	NBN	4683	HP:0002859	Rhabdomyosarcoma
OMIM:251260	NBN	4683	HP:0002269	Abnormality of neuronal migration
OMIM:251260	NBN	4683	HP:0000453	Choanal atresia
OMIM:251260	NBN	4683	HP:0000957	Cafe-au-lait spot
OMIM:251260	NBN	4683	HP:0100589	Urogenital fistula
OMIM:251260	NBN	4683	HP:0003202	Skeletal muscle atrophy
OMIM:251260	NBN	4683	HP:0006532	Recurrent pneumonia
OMIM:251260	NBN	4683	HP:0000992	Cutaneous photosensitivity
OMIM:251260	NBN	4683	HP:0002488	Acute leukemia
OMIM:251260	NBN	4683	HP:0002837	Recurrent bronchitis
OMIM:251260	NBN	4683	HP:0003189	Long nose
OMIM:251260	NBN	4683	HP:0010620	Malar prominence
OMIM:251260	NBN	4683	HP:0002014	Diarrhea
OMIM:612541	G6PC3	92579	HP:0001875	Neutropenia
OMIM:612541	G6PC3	92579	HP:0000778	Hypoplasia of the thymus
OMIM:612541	G6PC3	92579	HP:0001873	Thrombocytopenia
OMIM:612541	G6PC3	92579	HP:0011304	Broad thumb
OMIM:612541	G6PC3	92579	HP:0000252	Microcephaly
OMIM:612541	G6PC3	92579	HP:0001642	Pulmonic stenosis
OMIM:612541	G6PC3	92579	HP:0001508	Failure to thrive
OMIM:612541	G6PC3	92579	HP:0000028	Cryptorchidism
OMIM:612541	G6PC3	92579	HP:0001643	Patent ductus arteriosus
OMIM:612541	G6PC3	92579	HP:0001653	Mitral regurgitation
OMIM:612541	G6PC3	92579	HP:0002205	Recurrent respiratory infections
OMIM:612541	G6PC3	92579	HP:0001631	Atria septal defect
OMIM:612541	G6PC3	92579	HP:0000007	Autosomal recessive inheritance
OMIM:612541	G6PC3	92579	HP:0002240	Hepatomegaly
OMIM:612541	G6PC3	92579	HP:0000218	High palate
OMIM:612541	G6PC3	92579	HP:0000768	Pectus carinatum
OMIM:612541	G6PC3	92579	HP:0000175	Cleft palate
OMIM:612541	G6PC3	92579	HP:0002718	Recurrent bacterial infections
OMIM:612541	G6PC3	92579	HP:0001510	Growth delay
OMIM:612541	G6PC3	92579	HP:0000126	Hydronephrosis
OMIM:612541	G6PC3	92579	HP:0001744	Splenomegaly
OMIM:612541	G6PC3	92579	HP:0003812	Phenotypic variability
OMIM:612541	G6PC3	92579	HP:0001263	Global developmental delay
OMIM:612541	G6PC3	92579	HP:0000365	Hearing impairment
OMIM:612541	G6PC3	92579	HP:0100806	Sepsis
OMIM:612541	G6PC3	92579	HP:0001903	Anemia
OMIM:612541	G6PC3	92579	HP:0030084	Clinodactyly
OMIM:612541	G6PC3	92579	HP:0000431	Wide nasal bridge
OMIM:612541	G6PC3	92579	HP:0000954	Single transverse palmar crease
OMIM:612541	G6PC3	92579	HP:0002093	Respiratory insufficiency
OMIM:616357	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:616357	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:616357	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:616357	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:616357	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:616357	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:616357	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:616357	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:616357	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:616357	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:616357	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:616357	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:616357	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:616357	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:616357	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:616357	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:616357	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:616357	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:616357	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:616357	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:616357	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:616357	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:616357	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:616357	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:616357	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:616357	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:616357	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:616357	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:616357	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:616357	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:616357	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:616357	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:616357	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:616357	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:616357	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:616357	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:616357	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:616357	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:616357	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:616357	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:616357	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:616357	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:616357	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:616357	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:616357	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:616357	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:616357	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:616357	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:616357	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:616357	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:616357	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:616357	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:616357	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:616357	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:616357	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:616357	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:616357	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:616357	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:616357	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:616357	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:616357	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:616357	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:616357	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:616357	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:616357	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:616357	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:616357	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:616357	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:616357	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:616357	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:251100	MMAA	166785	HP:0012120	Methylmalonic aciduria
OMIM:251100	MMAA	166785	HP:0001944	Dehydration
OMIM:251100	MMAA	166785	HP:0001903	Anemia
OMIM:251100	MMAA	166785	HP:0002098	Respiratory distress
OMIM:251100	MMAA	166785	HP:0002919	Ketonuria
OMIM:251100	MMAA	166785	HP:0002013	Vomiting
OMIM:251100	MMAA	166785	HP:0002240	Hepatomegaly
OMIM:251100	MMAA	166785	HP:0001508	Failure to thrive
OMIM:251100	MMAA	166785	HP:0002154	Hyperglycinemia
OMIM:251100	MMAA	166785	HP:0001987	Hyperammonemia
OMIM:251100	MMAA	166785	HP:0001876	Pancytopenia
OMIM:251100	MMAA	166785	HP:0000007	Autosomal recessive inheritance
OMIM:251100	MMAA	166785	HP:0001263	Global developmental delay
OMIM:251100	MMAA	166785	HP:0001875	Neutropenia
OMIM:251100	MMAA	166785	HP:0001873	Thrombocytopenia
OMIM:251100	MMAA	166785	HP:0001250	Seizures
OMIM:251100	MMAA	166785	HP:0001254	Lethargy
OMIM:251100	MMAA	166785	HP:0001946	Ketosis
OMIM:251100	MMAA	166785	HP:0001252	Muscular hypotonia
OMIM:251100	MMAA	166785	HP:0001942	Metabolic acidosis
OMIM:251100	MMAA	166785	HP:0002912	Methylmalonic acidemia
OMIM:251100	MMAA	166785	HP:0008872	Feeding difficulties in infancy
OMIM:251100	MMAA	166785	HP:0001259	Coma
OMIM:251100	MMAA	166785	HP:0003593	Infantile onset
OMIM:251100	MMAA	166785	HP:0001337	Tremor
OMIM:616425	DMRT1	1761	HP:0100621	Dysgerminoma
OMIM:616425	DMRT1	1761	HP:0000062	Ambiguous genitalia
OMIM:616425	DMRT1	1761	HP:0008734	Decreased testicular size
OMIM:616425	DMRT1	1761	HP:0000054	Micropenis
OMIM:616425	DMRT1	1761	HP:0000150	Gonadoblastoma
OMIM:616425	WT1	7490	HP:0100621	Dysgerminoma
OMIM:616425	WT1	7490	HP:0000062	Ambiguous genitalia
OMIM:616425	WT1	7490	HP:0008734	Decreased testicular size
OMIM:616425	WT1	7490	HP:0000054	Micropenis
OMIM:616425	WT1	7490	HP:0000150	Gonadoblastoma
OMIM:616425	GATA4	2626	HP:0100621	Dysgerminoma
OMIM:616425	GATA4	2626	HP:0000062	Ambiguous genitalia
OMIM:616425	GATA4	2626	HP:0008734	Decreased testicular size
OMIM:616425	GATA4	2626	HP:0000054	Micropenis
OMIM:616425	GATA4	2626	HP:0000150	Gonadoblastoma
OMIM:616425	SOX9	6662	HP:0100621	Dysgerminoma
OMIM:616425	SOX9	6662	HP:0000062	Ambiguous genitalia
OMIM:616425	SOX9	6662	HP:0008734	Decreased testicular size
OMIM:616425	SOX9	6662	HP:0000054	Micropenis
OMIM:616425	SOX9	6662	HP:0000150	Gonadoblastoma
OMIM:616425	SRY	6736	HP:0100621	Dysgerminoma
OMIM:616425	SRY	6736	HP:0000062	Ambiguous genitalia
OMIM:616425	SRY	6736	HP:0008734	Decreased testicular size
OMIM:616425	SRY	6736	HP:0000054	Micropenis
OMIM:616425	SRY	6736	HP:0000150	Gonadoblastoma
OMIM:616425	NR5A1	2516	HP:0100621	Dysgerminoma
OMIM:616425	NR5A1	2516	HP:0000062	Ambiguous genitalia
OMIM:616425	NR5A1	2516	HP:0008734	Decreased testicular size
OMIM:616425	NR5A1	2516	HP:0000054	Micropenis
OMIM:616425	NR5A1	2516	HP:0000150	Gonadoblastoma
OMIM:616425	MAP3K1	4214	HP:0100621	Dysgerminoma
OMIM:616425	MAP3K1	4214	HP:0000062	Ambiguous genitalia
OMIM:616425	MAP3K1	4214	HP:0008734	Decreased testicular size
OMIM:616425	MAP3K1	4214	HP:0000054	Micropenis
OMIM:616425	MAP3K1	4214	HP:0000150	Gonadoblastoma
OMIM:616425	ZFPM2	23414	HP:0100621	Dysgerminoma
OMIM:616425	ZFPM2	23414	HP:0000062	Ambiguous genitalia
OMIM:616425	ZFPM2	23414	HP:0008734	Decreased testicular size
OMIM:616425	ZFPM2	23414	HP:0000054	Micropenis
OMIM:616425	ZFPM2	23414	HP:0000150	Gonadoblastoma
OMIM:616425	CBX2	84733	HP:0100621	Dysgerminoma
OMIM:616425	CBX2	84733	HP:0000062	Ambiguous genitalia
OMIM:616425	CBX2	84733	HP:0008734	Decreased testicular size
OMIM:616425	CBX2	84733	HP:0000054	Micropenis
OMIM:616425	CBX2	84733	HP:0000150	Gonadoblastoma
OMIM:616425	WWOX	51741	HP:0100621	Dysgerminoma
OMIM:616425	WWOX	51741	HP:0000062	Ambiguous genitalia
OMIM:616425	WWOX	51741	HP:0008734	Decreased testicular size
OMIM:616425	WWOX	51741	HP:0000054	Micropenis
OMIM:616425	WWOX	51741	HP:0000150	Gonadoblastoma
OMIM:616425	VAMP7	6845	HP:0100621	Dysgerminoma
OMIM:616425	VAMP7	6845	HP:0000062	Ambiguous genitalia
OMIM:616425	VAMP7	6845	HP:0008734	Decreased testicular size
OMIM:616425	VAMP7	6845	HP:0000054	Micropenis
OMIM:616425	VAMP7	6845	HP:0000150	Gonadoblastoma
OMIM:616425	DHH	50846	HP:0100621	Dysgerminoma
OMIM:616425	DHH	50846	HP:0000062	Ambiguous genitalia
OMIM:616425	DHH	50846	HP:0008734	Decreased testicular size
OMIM:616425	DHH	50846	HP:0000054	Micropenis
OMIM:616425	DHH	50846	HP:0000150	Gonadoblastoma
OMIM:616425	NR0B1	190	HP:0100621	Dysgerminoma
OMIM:616425	NR0B1	190	HP:0000062	Ambiguous genitalia
OMIM:616425	NR0B1	190	HP:0008734	Decreased testicular size
OMIM:616425	NR0B1	190	HP:0000054	Micropenis
OMIM:616425	NR0B1	190	HP:0000150	Gonadoblastoma
OMIM:616487	PLEC	5339	HP:0008404	Nail dystrophy
OMIM:201750	POR	5447	HP:0001562	Oligohydramnios
OMIM:201750	POR	5447	HP:0000007	Autosomal recessive inheritance
OMIM:201750	POR	5447	HP:0000085	Horseshoe kidney
OMIM:201750	POR	5447	HP:0000452	Choanal stenosis
OMIM:201750	POR	5447	HP:0002974	Radioulnar synostosis
OMIM:201750	POR	5447	HP:0001838	Rocker bottom foot
OMIM:201750	POR	5447	HP:0000147	Polycystic ovaries
OMIM:201750	POR	5447	HP:0000453	Choanal atresia
OMIM:201750	POR	5447	HP:0002937	Hemivertebrae
OMIM:201750	POR	5447	HP:0005280	Depressed nasal bridge
OMIM:201750	POR	5447	HP:0000028	Cryptorchidism
OMIM:201750	POR	5447	HP:0012385	Camptodactyly
OMIM:201750	POR	5447	HP:0001363	Craniosynostosis
OMIM:201750	POR	5447	HP:0000272	Malar flattening
OMIM:201750	POR	5447	HP:0009702	Carpal synostosis
OMIM:201750	POR	5447	HP:0011800	Hypoplasia of midface
OMIM:201750	POR	5447	HP:0000405	Conductive hearing impairment
OMIM:201750	POR	5447	HP:0001518	Small for gestational age
OMIM:201750	POR	5447	HP:0000048	Bifid scrotum
OMIM:201750	POR	5447	HP:0001194	Abnormalities of placenta or umbilical cord
OMIM:201750	POR	5447	HP:0000252	Microcephaly
OMIM:201750	POR	5447	HP:0001166	Arachnodactyly
OMIM:201750	POR	5447	HP:0001601	Laryngomalacia
OMIM:201750	POR	5447	HP:0009473	Joint contracture of the hand
OMIM:201750	POR	5447	HP:0000041	Chordee
OMIM:201750	POR	5447	HP:0002308	Arnold-Chiari malformation
OMIM:201750	POR	5447	HP:0002007	Frontal bossing
OMIM:201750	POR	5447	HP:0002650	Scoliosis
OMIM:201750	POR	5447	HP:0003041	Humeroradial synostosis
OMIM:201750	POR	5447	HP:0002780	Bronchomalacia
OMIM:201750	POR	5447	HP:0000046	Scrotal hypoplasia
OMIM:201750	POR	5447	HP:0001438	Abnormality of the abdomen
OMIM:201750	POR	5447	HP:0000057	Clitoromegaly
OMIM:201750	POR	5447	HP:0000377	Abnormality of the pinna
OMIM:201750	POR	5447	HP:0000248	Brachycephaly
OMIM:201750	POR	5447	HP:0000316	Hypertelorism
OMIM:201750	POR	5447	HP:0000818	Abnormality of the endocrine system
OMIM:201750	POR	5447	HP:0002980	Femoral bowing
OMIM:201750	POR	5447	HP:0000062	Ambiguous genitalia
OMIM:201750	POR	5447	HP:0000054	Micropenis
OMIM:201750	POR	5447	HP:0000520	Proptosis
OMIM:201750	POR	5447	HP:0000047	Hypospadias
OMIM:201750	POR	5447	HP:0008368	Tarsal synostosis
OMIM:201750	POR	5447	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:256030	NEB	4703	HP:0000007	Autosomal recessive inheritance
OMIM:256030	NEB	4703	HP:0002515	Waddling gait
OMIM:256030	NEB	4703	HP:0003324	Generalized muscle weakness
OMIM:256030	NEB	4703	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:256030	NEB	4703	HP:0000369	Low-set ears
OMIM:256030	NEB	4703	HP:0001561	Polyhydramnios
OMIM:256030	NEB	4703	HP:0001283	Bulbar palsy
OMIM:256030	NEB	4703	HP:0003445	EMG: neuropathic changes
OMIM:256030	NEB	4703	HP:0011968	Feeding difficulties
OMIM:256030	NEB	4703	HP:0003458	EMG: myopathic abnormalities
OMIM:256030	NEB	4703	HP:0003593	Infantile onset
OMIM:256030	NEB	4703	HP:0002015	Dysphagia
OMIM:256030	NEB	4703	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:256030	NEB	4703	HP:0002359	Frequent falls
OMIM:256030	NEB	4703	HP:0002650	Scoliosis
OMIM:256030	NEB	4703	HP:0001284	Areflexia
OMIM:256030	NEB	4703	HP:0000175	Cleft palate
OMIM:256030	NEB	4703	HP:0003810	Late-onset distal muscle weakness
OMIM:256030	NEB	4703	HP:0001558	Decreased fetal movement
OMIM:256030	NEB	4703	HP:0002804	Arthrogryposis multiplex congenita
OMIM:256030	NEB	4703	HP:0002803	Congenital contracture
OMIM:256030	NEB	4703	HP:0002104	Apnea
OMIM:256030	NEB	4703	HP:0001547	Abnormality of the rib cage
OMIM:256030	NEB	4703	HP:0000478	Abnormality of the eye
OMIM:256030	NEB	4703	HP:0003701	Proximal muscle weakness
OMIM:256030	NEB	4703	HP:0003690	Limb muscle weakness
OMIM:256030	NEB	4703	HP:0003307	Hyperlordosis
OMIM:256030	NEB	4703	HP:0010628	Facial palsy
OMIM:256030	NEB	4703	HP:0001265	Hyporeflexia
OMIM:256030	NEB	4703	HP:0001319	Neonatal hypotonia
OMIM:256030	NEB	4703	HP:0001270	Motor delay
OMIM:256030	NEB	4703	HP:0003306	Spinal rigidity
OMIM:256030	NEB	4703	HP:0000218	High palate
OMIM:607115	NLRP3	114548	HP:0004370	Abnormality of temperature regulation
OMIM:607115	NLRP3	114548	HP:0004349	Reduced bone mineral density
OMIM:607115	NLRP3	114548	HP:0001271	Polyneuropathy
OMIM:607115	NLRP3	114548	HP:0002716	Lymphadenopathy
OMIM:607115	NLRP3	114548	HP:0100533	Inflammatory abnormality of the eye
OMIM:607115	NLRP3	114548	HP:0003326	Myalgia
OMIM:607115	NLRP3	114548	HP:0001156	Brachydactyly syndrome
OMIM:607115	NLRP3	114548	HP:0000505	Visual impairment
OMIM:607115	NLRP3	114548	HP:0001933	Subcutaneous hemorrhage
OMIM:607115	NLRP3	114548	HP:0002829	Arthralgia
OMIM:607115	NLRP3	114548	HP:0002240	Hepatomegaly
OMIM:607115	NLRP3	114548	HP:0001376	Limitation of joint mobility
OMIM:607115	NLRP3	114548	HP:0001744	Splenomegaly
OMIM:607115	NLRP3	114548	HP:0001903	Anemia
OMIM:607115	NLRP3	114548	HP:0001874	Abnormality of neutrophils
OMIM:607115	NLRP3	114548	HP:0002017	Nausea and vomiting
OMIM:607115	NLRP3	114548	HP:0000256	Macrocephaly
OMIM:607115	NLRP3	114548	HP:0000520	Proptosis
OMIM:607115	NLRP3	114548	HP:0000648	Optic atrophy
OMIM:607115	NLRP3	114548	HP:0001369	Arthritis
OMIM:607115	NLRP3	114548	HP:0001872	Abnormality of thrombocytes
OMIM:607115	NLRP3	114548	HP:0001974	Leukocytosis
OMIM:607115	NLRP3	114548	HP:0000969	Edema
OMIM:607115	NLRP3	114548	HP:0000163	Abnormality of the oral cavity
OMIM:607115	NLRP3	114548	HP:0100543	Cognitive impairment
OMIM:607115	NLRP3	114548	HP:0001025	Urticaria
OMIM:607115	NLRP3	114548	HP:0001287	Meningitis
OMIM:607115	NLRP3	114548	HP:0002007	Frontal bossing
OMIM:607115	NLRP3	114548	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:607115	NLRP3	114548	HP:0000407	Sensorineural hearing impairment
OMIM:607115	NLRP3	114548	HP:0002076	Migraine
OMIM:607115	NLRP3	114548	HP:0001622	Premature birth
OMIM:607115	NLRP3	114548	HP:0002652	Skeletal dysplasia
OMIM:615485	ASXL3	80816	HP:0011968	Feeding difficulties
OMIM:615485	ASXL3	80816	HP:0000463	Anteverted nares
OMIM:615485	ASXL3	80816	HP:0011344	Severe global developmental delay
OMIM:615485	ASXL3	80816	HP:0002553	Highly arched eyebrow
OMIM:104000	HR	55806	HP:0001426	Multifactorial inheritance
OMIM:104000	HR	55806	HP:0002960	Autoimmunity
OMIM:614338	PNLIP	5406	HP:0000007	Autosomal recessive inheritance
OMIM:614338	PNLIP	5406	HP:0002570	Steatorrhea
OMIM:300884	ALG13	79868	HP:0000252	Microcephaly
OMIM:300884	ALG13	79868	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:300884	ALG13	79868	HP:0001263	Global developmental delay
OMIM:300884	ALG13	79868	HP:0001250	Seizures
OMIM:300884	ALG13	79868	HP:0007256	Abnormal pyramidal signs
OMIM:300884	ALG13	79868	HP:0000238	Hydrocephalus
OMIM:300884	ALG13	79868	HP:0002240	Hepatomegaly
OMIM:300884	ALG13	79868	HP:0000648	Optic atrophy
OMIM:300884	ALG13	79868	HP:0001371	Flexion contracture
OMIM:300884	ALG13	79868	HP:0001252	Muscular hypotonia
OMIM:300884	ALG13	79868	HP:0002719	Recurrent infections
OMIM:300884	ALG13	79868	HP:0003593	Infantile onset
OMIM:300884	ALG13	79868	HP:0001419	X-linked recessive inheritance
OMIM:300884	ALG13	79868	HP:0001999	Abnormal facial shape
OMIM:194200	PRKAG2	51422	HP:0001645	Sudden cardiac death
OMIM:194200	PRKAG2	51422	HP:0006677	Prolonged QRS complex
OMIM:194200	PRKAG2	51422	HP:0001297	Stroke
OMIM:194200	PRKAG2	51422	HP:0001962	Palpitations
OMIM:194200	PRKAG2	51422	HP:0001638	Cardiomyopathy
OMIM:194200	PRKAG2	51422	HP:0004763	Paroxysmal supraventricular tachycardia
OMIM:194200	PRKAG2	51422	HP:0004757	Paroxysmal atrial fibrillation
OMIM:214800	CHD7	55636	HP:0001539	Omphalocele
OMIM:214800	CHD7	55636	HP:0001511	Intrauterine growth retardation
OMIM:214800	CHD7	55636	HP:0002032	Esophageal atresia
OMIM:214800	CHD7	55636	HP:0002575	Tracheoesophageal fistula
OMIM:214800	CHD7	55636	HP:0000316	Hypertelorism
OMIM:214800	CHD7	55636	HP:0002015	Dysphagia
OMIM:214800	CHD7	55636	HP:0001161	Hand polydactyly
OMIM:214800	CHD7	55636	HP:0000008	Abnormality of female internal genitalia
OMIM:214800	CHD7	55636	HP:0002992	Abnormality of the tibia
OMIM:214800	CHD7	55636	HP:0100736	Abnormality of the soft palate
OMIM:214800	CHD7	55636	HP:0000286	Epicanthus
OMIM:214800	CHD7	55636	HP:0000772	Abnormality of the ribs
OMIM:214800	CHD7	55636	HP:0001679	Abnormality of the aorta
OMIM:214800	CHD7	55636	HP:0002650	Scoliosis
OMIM:214800	CHD7	55636	HP:0000384	Preauricular skin tag
OMIM:214800	CHD7	55636	HP:0000365	Hearing impairment
OMIM:214800	CHD7	55636	HP:0000488	Retinopathy
OMIM:214800	CHD7	55636	HP:0001156	Brachydactyly syndrome
OMIM:214800	CHD7	55636	HP:0001171	Split hand
OMIM:214800	CHD7	55636	HP:0000324	Facial asymmetry
OMIM:214800	CHD7	55636	HP:0002937	Hemivertebrae
OMIM:214800	CHD7	55636	HP:0004408	Abnormality of the sense of smell
OMIM:214800	CHD7	55636	HP:0004209	Clinodactyly of the 5th finger
OMIM:214800	CHD7	55636	HP:0001636	Tetralogy of Fallot
OMIM:214800	CHD7	55636	HP:0000824	Growth hormone deficiency
OMIM:214800	CHD7	55636	HP:0007018	Attention deficit hyperactivity disorder
OMIM:214800	CHD7	55636	HP:0200021	Down-sloping shoulders
OMIM:214800	CHD7	55636	HP:0000860	Parathyroid hypoplasia
OMIM:214800	CHD7	55636	HP:0000054	Micropenis
OMIM:214800	CHD7	55636	HP:0009778	Short thumb
OMIM:214800	CHD7	55636	HP:0000480	Retinal coloboma
OMIM:214800	CHD7	55636	HP:0008872	Feeding difficulties in infancy
OMIM:214800	CHD7	55636	HP:0003974	Absent radius
OMIM:214800	CHD7	55636	HP:0001382	Joint hypermobility
OMIM:214800	CHD7	55636	HP:0001643	Patent ductus arteriosus
OMIM:214800	CHD7	55636	HP:0010628	Facial palsy
OMIM:214800	CHD7	55636	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:214800	CHD7	55636	HP:0000202	Oral cleft
OMIM:214800	CHD7	55636	HP:0001537	Umbilical hernia
OMIM:214800	CHD7	55636	HP:0000568	Microphthalmia
OMIM:214800	CHD7	55636	HP:0000505	Visual impairment
OMIM:214800	CHD7	55636	HP:0000055	Abnormality of female external genitalia
OMIM:214800	CHD7	55636	HP:0000625	Cleft eyelid
OMIM:214800	CHD7	55636	HP:0000275	Narrow face
OMIM:214800	CHD7	55636	HP:0000089	Renal hypoplasia
OMIM:214800	CHD7	55636	HP:0000246	Sinusitis
OMIM:214800	CHD7	55636	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214800	CHD7	55636	HP:0000717	Autism
OMIM:214800	CHD7	55636	HP:0005374	Cellular immunodeficiency
OMIM:214800	CHD7	55636	HP:0001252	Muscular hypotonia
OMIM:214800	CHD7	55636	HP:0003745	Sporadic
OMIM:214800	CHD7	55636	HP:0000508	Ptosis
OMIM:214800	CHD7	55636	HP:0001601	Laryngomalacia
OMIM:214800	CHD7	55636	HP:0000252	Microcephaly
OMIM:214800	CHD7	55636	HP:0000076	Vesicoureteral reflux
OMIM:214800	CHD7	55636	HP:0000272	Malar flattening
OMIM:214800	CHD7	55636	HP:0001629	Ventricular septal defect
OMIM:214800	CHD7	55636	HP:0002901	Hypocalcemia
OMIM:214800	CHD7	55636	HP:0000689	Dental malocclusion
OMIM:214800	CHD7	55636	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:214800	CHD7	55636	HP:0010515	Aplasia/Hypoplasia of the thymus
OMIM:214800	CHD7	55636	HP:0001719	Double outlet right ventricle
OMIM:214800	CHD7	55636	HP:0001883	Talipes
OMIM:214800	CHD7	55636	HP:0000648	Optic atrophy
OMIM:214800	CHD7	55636	HP:0000104	Renal agenesis
OMIM:214800	CHD7	55636	HP:0000528	Anophthalmia
OMIM:214800	CHD7	55636	HP:0000612	Iris coloboma
OMIM:214800	CHD7	55636	HP:0000396	Overfolded helix
OMIM:214800	CHD7	55636	HP:0000588	Optic nerve coloboma
OMIM:214800	CHD7	55636	HP:0000830	Anterior hypopituitarism
OMIM:214800	CHD7	55636	HP:0000501	Glaucoma
OMIM:214800	CHD7	55636	HP:0000465	Webbed neck
OMIM:214800	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:214800	CHD7	55636	HP:0000378	Cupped ear
OMIM:214800	CHD7	55636	HP:0000400	Macrotia
OMIM:214800	CHD7	55636	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:214800	CHD7	55636	HP:0001249	Intellectual disability
OMIM:214800	CHD7	55636	HP:0002025	Anal stenosis
OMIM:214800	CHD7	55636	HP:0008897	Postnatal growth retardation
OMIM:214800	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:214800	CHD7	55636	HP:0000486	Strabismus
OMIM:214800	CHD7	55636	HP:0002167	Neurological speech impairment
OMIM:214800	CHD7	55636	HP:0004404	Abnormality of the nipple
OMIM:214800	CHD7	55636	HP:0000639	Nystagmus
OMIM:214800	CHD7	55636	HP:0000834	Abnormality of the adrenal glands
OMIM:214800	CHD7	55636	HP:0001018	Abnormal palmar dermatoglyphics
OMIM:214800	CHD7	55636	HP:0100499	Tibial deviation of toes
OMIM:214800	CHD7	55636	HP:0000722	Obsessive-compulsive behavior
OMIM:214800	CHD7	55636	HP:0000347	Micrognathia
OMIM:214800	CHD7	55636	HP:0008736	Hypoplasia of penis
OMIM:214800	CHD7	55636	HP:0100716	Self-injurious behavior
OMIM:214800	CHD7	55636	HP:0003422	Vertebral segmentation defect
OMIM:214800	CHD7	55636	HP:0008572	External ear malformation
OMIM:214800	CHD7	55636	HP:0009738	Abnormality of the antihelix
OMIM:214800	CHD7	55636	HP:0008050	Abnormality of the palpebral fissures
OMIM:214800	CHD7	55636	HP:0000682	Abnormality of dental enamel
OMIM:214800	CHD7	55636	HP:0001305	Dandy-Walker malformation
OMIM:214800	CHD7	55636	HP:0002553	Highly arched eyebrow
OMIM:214800	CHD7	55636	HP:0001199	Triphalangeal thumb
OMIM:214800	CHD7	55636	HP:0001642	Pulmonic stenosis
OMIM:214800	CHD7	55636	HP:0011968	Feeding difficulties
OMIM:214800	CHD7	55636	HP:0002823	Abnormality of the femur
OMIM:214800	CHD7	55636	HP:0001360	Holoprosencephaly
OMIM:214800	CHD7	55636	HP:0000494	Downslanted palpebral fissures
OMIM:214800	CHD7	55636	HP:0002093	Respiratory insufficiency
OMIM:214800	CHD7	55636	HP:0000359	Abnormality of the inner ear
OMIM:214800	CHD7	55636	HP:0000541	Retinal detachment
OMIM:214800	CHD7	55636	HP:0004322	Short stature
OMIM:214800	CHD7	55636	HP:0011001	Increased bone mineral density
OMIM:214800	CHD7	55636	HP:0000368	Low-set, posteriorly rotated ears
OMIM:214800	CHD7	55636	HP:0000453	Choanal atresia
OMIM:214800	CHD7	55636	HP:0000388	Otitis media
OMIM:214800	CHD7	55636	HP:0000684	Delayed eruption of teeth
OMIM:214800	CHD7	55636	HP:0000821	Hypothyroidism
OMIM:214800	CHD7	55636	HP:0000085	Horseshoe kidney
OMIM:214800	CHD7	55636	HP:0000632	Lacrimation abnormality
OMIM:214800	CHD7	55636	HP:0000126	Hydronephrosis
OMIM:214800	CHD7	55636	HP:0003272	Abnormality of the hip bone
OMIM:214800	CHD7	55636	HP:0001231	Abnormality of the fingernails
OMIM:214800	CHD7	55636	HP:0001561	Polyhydramnios
OMIM:214800	CHD7	55636	HP:0008551	Microtia
OMIM:214800	CHD7	55636	HP:0010761	Broad columella
OMIM:214800	CHD7	55636	HP:0003043	Abnormality of the shoulder
OMIM:214800	CHD7	55636	HP:0000175	Cleft palate
OMIM:214800	CHD7	55636	HP:0002023	Anal atresia
OMIM:214800	CHD7	55636	HP:0002311	Incoordination
OMIM:214800	CHD7	55636	HP:0000567	Chorioretinal coloboma
OMIM:214800	CHD7	55636	HP:0001177	Preaxial hand polydactyly
OMIM:214800	CHD7	55636	HP:0000048	Bifid scrotum
OMIM:214800	CHD7	55636	HP:0001631	Atria septal defect
OMIM:214800	CHD7	55636	HP:0003022	Hypoplasia of the ulna
OMIM:214800	CHD7	55636	HP:0100543	Cognitive impairment
OMIM:214800	CHD7	55636	HP:0000160	Narrow mouth
OMIM:214800	CHD7	55636	HP:0000458	Anosmia
OMIM:214800	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:214800	CHD7	55636	HP:0100542	Abnormal localization of kidney
OMIM:214800	CHD7	55636	HP:0003812	Phenotypic variability
OMIM:214800	CHD7	55636	HP:0009804	Reduced number of teeth
OMIM:214800	CHD7	55636	HP:0000204	Cleft upper lip
OMIM:214800	CHD7	55636	HP:0002247	Duodenal atresia
OMIM:214800	SEMA3E	9723	HP:0001539	Omphalocele
OMIM:214800	SEMA3E	9723	HP:0001511	Intrauterine growth retardation
OMIM:214800	SEMA3E	9723	HP:0002032	Esophageal atresia
OMIM:214800	SEMA3E	9723	HP:0002575	Tracheoesophageal fistula
OMIM:214800	SEMA3E	9723	HP:0000316	Hypertelorism
OMIM:214800	SEMA3E	9723	HP:0002015	Dysphagia
OMIM:214800	SEMA3E	9723	HP:0001161	Hand polydactyly
OMIM:214800	SEMA3E	9723	HP:0000008	Abnormality of female internal genitalia
OMIM:214800	SEMA3E	9723	HP:0002992	Abnormality of the tibia
OMIM:214800	SEMA3E	9723	HP:0100736	Abnormality of the soft palate
OMIM:214800	SEMA3E	9723	HP:0000286	Epicanthus
OMIM:214800	SEMA3E	9723	HP:0000772	Abnormality of the ribs
OMIM:214800	SEMA3E	9723	HP:0001679	Abnormality of the aorta
OMIM:214800	SEMA3E	9723	HP:0002650	Scoliosis
OMIM:214800	SEMA3E	9723	HP:0000384	Preauricular skin tag
OMIM:214800	SEMA3E	9723	HP:0000365	Hearing impairment
OMIM:214800	SEMA3E	9723	HP:0000488	Retinopathy
OMIM:214800	SEMA3E	9723	HP:0001156	Brachydactyly syndrome
OMIM:214800	SEMA3E	9723	HP:0001171	Split hand
OMIM:214800	SEMA3E	9723	HP:0000324	Facial asymmetry
OMIM:214800	SEMA3E	9723	HP:0002937	Hemivertebrae
OMIM:214800	SEMA3E	9723	HP:0004408	Abnormality of the sense of smell
OMIM:214800	SEMA3E	9723	HP:0004209	Clinodactyly of the 5th finger
OMIM:214800	SEMA3E	9723	HP:0001636	Tetralogy of Fallot
OMIM:214800	SEMA3E	9723	HP:0000824	Growth hormone deficiency
OMIM:214800	SEMA3E	9723	HP:0007018	Attention deficit hyperactivity disorder
OMIM:214800	SEMA3E	9723	HP:0200021	Down-sloping shoulders
OMIM:214800	SEMA3E	9723	HP:0000860	Parathyroid hypoplasia
OMIM:214800	SEMA3E	9723	HP:0000054	Micropenis
OMIM:214800	SEMA3E	9723	HP:0009778	Short thumb
OMIM:214800	SEMA3E	9723	HP:0000480	Retinal coloboma
OMIM:214800	SEMA3E	9723	HP:0008872	Feeding difficulties in infancy
OMIM:214800	SEMA3E	9723	HP:0003974	Absent radius
OMIM:214800	SEMA3E	9723	HP:0001382	Joint hypermobility
OMIM:214800	SEMA3E	9723	HP:0001643	Patent ductus arteriosus
OMIM:214800	SEMA3E	9723	HP:0010628	Facial palsy
OMIM:214800	SEMA3E	9723	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:214800	SEMA3E	9723	HP:0000202	Oral cleft
OMIM:214800	SEMA3E	9723	HP:0001537	Umbilical hernia
OMIM:214800	SEMA3E	9723	HP:0000568	Microphthalmia
OMIM:214800	SEMA3E	9723	HP:0000505	Visual impairment
OMIM:214800	SEMA3E	9723	HP:0000055	Abnormality of female external genitalia
OMIM:214800	SEMA3E	9723	HP:0000625	Cleft eyelid
OMIM:214800	SEMA3E	9723	HP:0000275	Narrow face
OMIM:214800	SEMA3E	9723	HP:0000089	Renal hypoplasia
OMIM:214800	SEMA3E	9723	HP:0000246	Sinusitis
OMIM:214800	SEMA3E	9723	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:214800	SEMA3E	9723	HP:0000717	Autism
OMIM:214800	SEMA3E	9723	HP:0005374	Cellular immunodeficiency
OMIM:214800	SEMA3E	9723	HP:0001252	Muscular hypotonia
OMIM:214800	SEMA3E	9723	HP:0003745	Sporadic
OMIM:214800	SEMA3E	9723	HP:0000508	Ptosis
OMIM:214800	SEMA3E	9723	HP:0001601	Laryngomalacia
OMIM:214800	SEMA3E	9723	HP:0000252	Microcephaly
OMIM:214800	SEMA3E	9723	HP:0000076	Vesicoureteral reflux
OMIM:214800	SEMA3E	9723	HP:0000272	Malar flattening
OMIM:214800	SEMA3E	9723	HP:0001629	Ventricular septal defect
OMIM:214800	SEMA3E	9723	HP:0002901	Hypocalcemia
OMIM:214800	SEMA3E	9723	HP:0000689	Dental malocclusion
OMIM:214800	SEMA3E	9723	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:214800	SEMA3E	9723	HP:0010515	Aplasia/Hypoplasia of the thymus
OMIM:214800	SEMA3E	9723	HP:0001719	Double outlet right ventricle
OMIM:214800	SEMA3E	9723	HP:0001883	Talipes
OMIM:214800	SEMA3E	9723	HP:0000648	Optic atrophy
OMIM:214800	SEMA3E	9723	HP:0000104	Renal agenesis
OMIM:214800	SEMA3E	9723	HP:0000528	Anophthalmia
OMIM:214800	SEMA3E	9723	HP:0000612	Iris coloboma
OMIM:214800	SEMA3E	9723	HP:0000396	Overfolded helix
OMIM:214800	SEMA3E	9723	HP:0000588	Optic nerve coloboma
OMIM:214800	SEMA3E	9723	HP:0000830	Anterior hypopituitarism
OMIM:214800	SEMA3E	9723	HP:0000501	Glaucoma
OMIM:214800	SEMA3E	9723	HP:0000465	Webbed neck
OMIM:214800	SEMA3E	9723	HP:0000028	Cryptorchidism
OMIM:214800	SEMA3E	9723	HP:0000378	Cupped ear
OMIM:214800	SEMA3E	9723	HP:0000400	Macrotia
OMIM:214800	SEMA3E	9723	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:214800	SEMA3E	9723	HP:0001249	Intellectual disability
OMIM:214800	SEMA3E	9723	HP:0002025	Anal stenosis
OMIM:214800	SEMA3E	9723	HP:0008897	Postnatal growth retardation
OMIM:214800	SEMA3E	9723	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:214800	SEMA3E	9723	HP:0000486	Strabismus
OMIM:214800	SEMA3E	9723	HP:0002167	Neurological speech impairment
OMIM:214800	SEMA3E	9723	HP:0004404	Abnormality of the nipple
OMIM:214800	SEMA3E	9723	HP:0000639	Nystagmus
OMIM:214800	SEMA3E	9723	HP:0000834	Abnormality of the adrenal glands
OMIM:214800	SEMA3E	9723	HP:0001018	Abnormal palmar dermatoglyphics
OMIM:214800	SEMA3E	9723	HP:0100499	Tibial deviation of toes
OMIM:214800	SEMA3E	9723	HP:0000722	Obsessive-compulsive behavior
OMIM:214800	SEMA3E	9723	HP:0000347	Micrognathia
OMIM:214800	SEMA3E	9723	HP:0008736	Hypoplasia of penis
OMIM:214800	SEMA3E	9723	HP:0100716	Self-injurious behavior
OMIM:214800	SEMA3E	9723	HP:0003422	Vertebral segmentation defect
OMIM:214800	SEMA3E	9723	HP:0008572	External ear malformation
OMIM:214800	SEMA3E	9723	HP:0009738	Abnormality of the antihelix
OMIM:214800	SEMA3E	9723	HP:0008050	Abnormality of the palpebral fissures
OMIM:214800	SEMA3E	9723	HP:0000682	Abnormality of dental enamel
OMIM:214800	SEMA3E	9723	HP:0001305	Dandy-Walker malformation
OMIM:214800	SEMA3E	9723	HP:0002553	Highly arched eyebrow
OMIM:214800	SEMA3E	9723	HP:0001199	Triphalangeal thumb
OMIM:214800	SEMA3E	9723	HP:0001642	Pulmonic stenosis
OMIM:214800	SEMA3E	9723	HP:0011968	Feeding difficulties
OMIM:214800	SEMA3E	9723	HP:0002823	Abnormality of the femur
OMIM:214800	SEMA3E	9723	HP:0001360	Holoprosencephaly
OMIM:214800	SEMA3E	9723	HP:0000494	Downslanted palpebral fissures
OMIM:214800	SEMA3E	9723	HP:0002093	Respiratory insufficiency
OMIM:214800	SEMA3E	9723	HP:0000359	Abnormality of the inner ear
OMIM:214800	SEMA3E	9723	HP:0000541	Retinal detachment
OMIM:214800	SEMA3E	9723	HP:0004322	Short stature
OMIM:214800	SEMA3E	9723	HP:0011001	Increased bone mineral density
OMIM:214800	SEMA3E	9723	HP:0000368	Low-set, posteriorly rotated ears
OMIM:214800	SEMA3E	9723	HP:0000453	Choanal atresia
OMIM:214800	SEMA3E	9723	HP:0000388	Otitis media
OMIM:214800	SEMA3E	9723	HP:0000684	Delayed eruption of teeth
OMIM:214800	SEMA3E	9723	HP:0000821	Hypothyroidism
OMIM:214800	SEMA3E	9723	HP:0000085	Horseshoe kidney
OMIM:214800	SEMA3E	9723	HP:0000632	Lacrimation abnormality
OMIM:214800	SEMA3E	9723	HP:0000126	Hydronephrosis
OMIM:214800	SEMA3E	9723	HP:0003272	Abnormality of the hip bone
OMIM:214800	SEMA3E	9723	HP:0001231	Abnormality of the fingernails
OMIM:214800	SEMA3E	9723	HP:0001561	Polyhydramnios
OMIM:214800	SEMA3E	9723	HP:0008551	Microtia
OMIM:214800	SEMA3E	9723	HP:0010761	Broad columella
OMIM:214800	SEMA3E	9723	HP:0003043	Abnormality of the shoulder
OMIM:214800	SEMA3E	9723	HP:0000175	Cleft palate
OMIM:214800	SEMA3E	9723	HP:0002023	Anal atresia
OMIM:214800	SEMA3E	9723	HP:0002311	Incoordination
OMIM:214800	SEMA3E	9723	HP:0000567	Chorioretinal coloboma
OMIM:214800	SEMA3E	9723	HP:0001177	Preaxial hand polydactyly
OMIM:214800	SEMA3E	9723	HP:0000048	Bifid scrotum
OMIM:214800	SEMA3E	9723	HP:0001631	Atria septal defect
OMIM:214800	SEMA3E	9723	HP:0003022	Hypoplasia of the ulna
OMIM:214800	SEMA3E	9723	HP:0100543	Cognitive impairment
OMIM:214800	SEMA3E	9723	HP:0000160	Narrow mouth
OMIM:214800	SEMA3E	9723	HP:0000458	Anosmia
OMIM:214800	SEMA3E	9723	HP:0000006	Autosomal dominant inheritance
OMIM:214800	SEMA3E	9723	HP:0100542	Abnormal localization of kidney
OMIM:214800	SEMA3E	9723	HP:0003812	Phenotypic variability
OMIM:214800	SEMA3E	9723	HP:0009804	Reduced number of teeth
OMIM:214800	SEMA3E	9723	HP:0000204	Cleft upper lip
OMIM:214800	SEMA3E	9723	HP:0002247	Duodenal atresia
ORPHANET:85198	COL2A1	1280	HP:0002650	Scoliosis
ORPHANET:85198	COL2A1	1280	HP:0003422	Vertebral segmentation defect
ORPHANET:85198	COL2A1	1280	HP:0002758	Osteoarthritis
ORPHANET:85198	COL2A1	1280	HP:0100777	Exostoses
ORPHANET:85198	COL2A1	1280	HP:0000951	Abnormality of the skin
ORPHANET:85198	COL2A1	1280	HP:0000926	Platyspondyly
ORPHANET:85198	COL2A1	1280	HP:0002652	Skeletal dysplasia
ORPHANET:85198	COL2A1	1280	HP:0002997	Abnormality of the ulna
ORPHANET:85198	COL2A1	1280	HP:0002857	Genu valgum
ORPHANET:85198	COL2A1	1280	HP:0002750	Delayed skeletal maturation
ORPHANET:85198	COL2A1	1280	HP:0100543	Cognitive impairment
ORPHANET:85198	COL2A1	1280	HP:0002514	Cerebral calcification
ORPHANET:85198	COL2A1	1280	HP:0004322	Short stature
ORPHANET:85198	COL2A1	1280	HP:0002991	Abnormality of the fibula
OMIM:273900	MASTL	84930	HP:0000007	Autosomal recessive inheritance
OMIM:273900	MASTL	84930	HP:0001892	Abnormal bleeding
OMIM:273900	MASTL	84930	HP:0000924	Abnormality of the skeletal system
OMIM:273900	MASTL	84930	HP:0001873	Thrombocytopenia
OMIM:273900	ANKRD26	22852	HP:0000007	Autosomal recessive inheritance
OMIM:273900	ANKRD26	22852	HP:0001892	Abnormal bleeding
OMIM:273900	ANKRD26	22852	HP:0000924	Abnormality of the skeletal system
OMIM:273900	ANKRD26	22852	HP:0001873	Thrombocytopenia
OMIM:273900	CYCS	54205	HP:0000007	Autosomal recessive inheritance
OMIM:273900	CYCS	54205	HP:0001892	Abnormal bleeding
OMIM:273900	CYCS	54205	HP:0000924	Abnormality of the skeletal system
OMIM:273900	CYCS	54205	HP:0001873	Thrombocytopenia
OMIM:232240	SLC37A4	2542	HP:0001946	Ketosis
OMIM:232240	SLC37A4	2542	HP:0000790	Hematuria
OMIM:232240	SLC37A4	2542	HP:0000822	Hypertension
OMIM:232240	SLC37A4	2542	HP:0001943	Hypoglycemia
OMIM:232240	SLC37A4	2542	HP:0000093	Proteinuria
OMIM:232240	SLC37A4	2542	HP:0000097	Focal segmental glomerulosclerosis
OMIM:232240	SLC37A4	2542	HP:0001942	Metabolic acidosis
OMIM:232240	SLC37A4	2542	HP:0003077	Hyperlipidemia
OMIM:232240	SLC37A4	2542	HP:0000007	Autosomal recessive inheritance
OMIM:232240	SLC37A4	2542	HP:0000083	Renal insufficiency
OMIM:232240	SLC37A4	2542	HP:0000991	Xanthomatosis
OMIM:232240	SLC37A4	2542	HP:0002240	Hepatomegaly
OMIM:232240	SLC37A4	2542	HP:0003128	Lactic acidosis
OMIM:130720	NOTCH3	4854	HP:0000319	Smooth philtrum
OMIM:130720	NOTCH3	4854	HP:0000767	Pectus excavatum
OMIM:130720	NOTCH3	4854	HP:0001537	Umbilical hernia
OMIM:130720	NOTCH3	4854	HP:0002650	Scoliosis
OMIM:130720	NOTCH3	4854	HP:0000951	Abnormality of the skin
OMIM:130720	NOTCH3	4854	HP:0000316	Hypertelorism
OMIM:130720	NOTCH3	4854	HP:0001252	Muscular hypotonia
OMIM:130720	NOTCH3	4854	HP:0000413	Atresia of the external auditory canal
OMIM:130720	NOTCH3	4854	HP:0002808	Kyphosis
OMIM:130720	NOTCH3	4854	HP:0000470	Short neck
OMIM:130720	NOTCH3	4854	HP:0000347	Micrognathia
OMIM:130720	NOTCH3	4854	HP:0004322	Short stature
OMIM:130720	NOTCH3	4854	HP:0000369	Low-set ears
OMIM:130720	NOTCH3	4854	HP:0002645	Wormian bones
OMIM:130720	NOTCH3	4854	HP:0000405	Conductive hearing impairment
OMIM:130720	NOTCH3	4854	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:130720	NOTCH3	4854	HP:0000612	Iris coloboma
OMIM:130720	NOTCH3	4854	HP:0001547	Abnormality of the rib cage
OMIM:130720	NOTCH3	4854	HP:0001629	Ventricular septal defect
OMIM:130720	NOTCH3	4854	HP:0002162	Low posterior hairline
OMIM:130720	NOTCH3	4854	HP:0000520	Proptosis
OMIM:130720	NOTCH3	4854	HP:0000678	Dental crowding
OMIM:130720	NOTCH3	4854	HP:0000164	Abnormality of the teeth
OMIM:130720	NOTCH3	4854	HP:0000286	Epicanthus
OMIM:130720	NOTCH3	4854	HP:0002435	Meningocele
OMIM:130720	NOTCH3	4854	HP:0000494	Downslanted palpebral fissures
OMIM:130720	NOTCH3	4854	HP:0000358	Posteriorly rotated ears
OMIM:130720	NOTCH3	4854	HP:0100543	Cognitive impairment
OMIM:130720	NOTCH3	4854	HP:0000175	Cleft palate
OMIM:130720	NOTCH3	4854	HP:0000407	Sensorineural hearing impairment
OMIM:130720	NOTCH3	4854	HP:0003312	Abnormal form of the vertebral bodies
OMIM:130720	NOTCH3	4854	HP:0000508	Ptosis
OMIM:130720	NOTCH3	4854	HP:0004452	Abnormality of the middle ear ossicles
OMIM:130720	NOTCH3	4854	HP:0000343	Long philtrum
OMIM:130720	NOTCH3	4854	HP:0001643	Patent ductus arteriosus
OMIM:130720	NOTCH3	4854	HP:0000368	Low-set, posteriorly rotated ears
OMIM:130720	NOTCH3	4854	HP:0000275	Narrow face
OMIM:130720	NOTCH3	4854	HP:0001382	Joint hypermobility
OMIM:130720	NOTCH3	4854	HP:0002308	Arnold-Chiari malformation
OMIM:130720	NOTCH3	4854	HP:0000218	High palate
OMIM:130720	NOTCH3	4854	HP:0000023	Inguinal hernia
OMIM:130720	NOTCH3	4854	HP:0000028	Cryptorchidism
OMIM:130720	NOTCH3	4854	HP:0000272	Malar flattening
OMIM:130720	NOTCH3	4854	HP:0007099	Arnold-Chiari type I malformation
OMIM:130720	NOTCH3	4854	HP:0000006	Autosomal dominant inheritance
OMIM:130720	NOTCH3	4854	HP:0000268	Dolichocephaly
OMIM:130720	NOTCH3	4854	HP:0003307	Hyperlordosis
OMIM:130720	NOTCH3	4854	HP:0004493	Craniofacial hyperostosis
OMIM:130720	NOTCH3	4854	HP:0002948	Vertebral fusion
OMIM:130720	NOTCH3	4854	HP:0003194	Short nasal bridge
OMIM:248510	MANBA	4126	HP:0000365	Hearing impairment
OMIM:248510	MANBA	4126	HP:0001249	Intellectual disability
OMIM:248510	MANBA	4126	HP:0002167	Neurological speech impairment
OMIM:248510	MANBA	4126	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:248510	MANBA	4126	HP:0000752	Hyperactivity
OMIM:248510	MANBA	4126	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:248510	MANBA	4126	HP:0001999	Abnormal facial shape
OMIM:248510	MANBA	4126	HP:0000007	Autosomal recessive inheritance
OMIM:248510	MANBA	4126	HP:0001250	Seizures
OMIM:248510	MANBA	4126	HP:0000718	Aggressive behavior
OMIM:248510	MANBA	4126	HP:0001252	Muscular hypotonia
OMIM:248510	MANBA	4126	HP:0100543	Cognitive impairment
OMIM:248510	MANBA	4126	HP:0002205	Recurrent respiratory infections
OMIM:607143	ALG12	79087	HP:0100543	Cognitive impairment
OMIM:607143	ALG12	79087	HP:0000078	Abnormality of the genital system
OMIM:607143	ALG12	79087	HP:0001252	Muscular hypotonia
OMIM:607143	ALG12	79087	HP:0010978	Abnormality of immune system physiology
OMIM:615325	DES	1674	HP:0003560	Muscular dystrophy
OMIM:615325	DES	1674	HP:0000007	Autosomal recessive inheritance
OMIM:615325	DES	1674	HP:0003691	Scapular winging
OMIM:615325	DES	1674	HP:0003676	Progressive
OMIM:615325	DES	1674	HP:0002987	Elbow flexion contracture
OMIM:615325	DES	1674	HP:0010628	Facial palsy
OMIM:190330	FGF5	2250	HP:0000518	Cataract
OMIM:190330	FGF5	2250	HP:0000527	Long eyelashes
OMIM:190330	FGF5	2250	HP:0000006	Autosomal dominant inheritance
OMIM:614815	OFD1	8481	HP:0000496	Abnormality of eye movement
OMIM:614815	OFD1	8481	HP:0001629	Ventricular septal defect
OMIM:614815	OFD1	8481	HP:0000085	Horseshoe kidney
OMIM:614815	OFD1	8481	HP:0010442	Polydactyly
OMIM:614815	OFD1	8481	HP:0002419	Molar tooth sign on MRI
OMIM:614815	OFD1	8481	HP:0001249	Intellectual disability
OMIM:614815	OFD1	8481	HP:0001511	Intrauterine growth retardation
OMIM:614815	OFD1	8481	HP:0012385	Camptodactyly
OMIM:614815	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:614815	OFD1	8481	HP:0003812	Phenotypic variability
OMIM:614815	OFD1	8481	HP:0002751	Kyphoscoliosis
OMIM:614815	OFD1	8481	HP:0001388	Joint laxity
OMIM:614815	C5ORF42	65250	HP:0000496	Abnormality of eye movement
OMIM:614815	C5ORF42	65250	HP:0001629	Ventricular septal defect
OMIM:614815	C5ORF42	65250	HP:0000085	Horseshoe kidney
OMIM:614815	C5ORF42	65250	HP:0010442	Polydactyly
OMIM:614815	C5ORF42	65250	HP:0002419	Molar tooth sign on MRI
OMIM:614815	C5ORF42	65250	HP:0001249	Intellectual disability
OMIM:614815	C5ORF42	65250	HP:0001511	Intrauterine growth retardation
OMIM:614815	C5ORF42	65250	HP:0012385	Camptodactyly
OMIM:614815	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:614815	C5ORF42	65250	HP:0003812	Phenotypic variability
OMIM:614815	C5ORF42	65250	HP:0002751	Kyphoscoliosis
OMIM:614815	C5ORF42	65250	HP:0001388	Joint laxity
OMIM:614815	TCTN3	26123	HP:0000496	Abnormality of eye movement
OMIM:614815	TCTN3	26123	HP:0001629	Ventricular septal defect
OMIM:614815	TCTN3	26123	HP:0000085	Horseshoe kidney
OMIM:614815	TCTN3	26123	HP:0010442	Polydactyly
OMIM:614815	TCTN3	26123	HP:0002419	Molar tooth sign on MRI
OMIM:614815	TCTN3	26123	HP:0001249	Intellectual disability
OMIM:614815	TCTN3	26123	HP:0001511	Intrauterine growth retardation
OMIM:614815	TCTN3	26123	HP:0012385	Camptodactyly
OMIM:614815	TCTN3	26123	HP:0000007	Autosomal recessive inheritance
OMIM:614815	TCTN3	26123	HP:0003812	Phenotypic variability
OMIM:614815	TCTN3	26123	HP:0002751	Kyphoscoliosis
OMIM:614815	TCTN3	26123	HP:0001388	Joint laxity
OMIM:614815	TMEM216	51259	HP:0000496	Abnormality of eye movement
OMIM:614815	TMEM216	51259	HP:0001629	Ventricular septal defect
OMIM:614815	TMEM216	51259	HP:0000085	Horseshoe kidney
OMIM:614815	TMEM216	51259	HP:0010442	Polydactyly
OMIM:614815	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
OMIM:614815	TMEM216	51259	HP:0001249	Intellectual disability
OMIM:614815	TMEM216	51259	HP:0001511	Intrauterine growth retardation
OMIM:614815	TMEM216	51259	HP:0012385	Camptodactyly
OMIM:614815	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:614815	TMEM216	51259	HP:0003812	Phenotypic variability
OMIM:614815	TMEM216	51259	HP:0002751	Kyphoscoliosis
OMIM:614815	TMEM216	51259	HP:0001388	Joint laxity
OMIM:614815	KIF7	374654	HP:0000496	Abnormality of eye movement
OMIM:614815	KIF7	374654	HP:0001629	Ventricular septal defect
OMIM:614815	KIF7	374654	HP:0000085	Horseshoe kidney
OMIM:614815	KIF7	374654	HP:0010442	Polydactyly
OMIM:614815	KIF7	374654	HP:0002419	Molar tooth sign on MRI
OMIM:614815	KIF7	374654	HP:0001249	Intellectual disability
OMIM:614815	KIF7	374654	HP:0001511	Intrauterine growth retardation
OMIM:614815	KIF7	374654	HP:0012385	Camptodactyly
OMIM:614815	KIF7	374654	HP:0000007	Autosomal recessive inheritance
OMIM:614815	KIF7	374654	HP:0003812	Phenotypic variability
OMIM:614815	KIF7	374654	HP:0002751	Kyphoscoliosis
OMIM:614815	KIF7	374654	HP:0001388	Joint laxity
OMIM:614815	PDE6D	5147	HP:0000496	Abnormality of eye movement
OMIM:614815	PDE6D	5147	HP:0001629	Ventricular septal defect
OMIM:614815	PDE6D	5147	HP:0000085	Horseshoe kidney
OMIM:614815	PDE6D	5147	HP:0010442	Polydactyly
OMIM:614815	PDE6D	5147	HP:0002419	Molar tooth sign on MRI
OMIM:614815	PDE6D	5147	HP:0001249	Intellectual disability
OMIM:614815	PDE6D	5147	HP:0001511	Intrauterine growth retardation
OMIM:614815	PDE6D	5147	HP:0012385	Camptodactyly
OMIM:614815	PDE6D	5147	HP:0000007	Autosomal recessive inheritance
OMIM:614815	PDE6D	5147	HP:0003812	Phenotypic variability
OMIM:614815	PDE6D	5147	HP:0002751	Kyphoscoliosis
OMIM:614815	PDE6D	5147	HP:0001388	Joint laxity
OMIM:312863	IL2RG	3561	HP:0005407	Decreased number of CD4+ T cells
OMIM:312863	IL2RG	3561	HP:0000246	Sinusitis
OMIM:312863	IL2RG	3561	HP:0005415	Decreased number of CD8+ T cells
OMIM:312863	IL2RG	3561	HP:0000388	Otitis media
OMIM:312863	IL2RG	3561	HP:0005387	Combined immunodeficiency
OMIM:312863	IL2RG	3561	HP:0002090	Pneumonia
OMIM:312863	IL2RG	3561	HP:0002837	Recurrent bronchitis
OMIM:312863	IL2RG	3561	HP:0001419	X-linked recessive inheritance
OMIM:312863	IL2RG	3561	HP:0004315	IgG deficiency
OMIM:219730	CRB2	286204	HP:0000083	Renal insufficiency
OMIM:219730	CRB2	286204	HP:0000007	Autosomal recessive inheritance
OMIM:219730	CRB2	286204	HP:0001250	Seizures
OMIM:219730	CRB2	286204	HP:0001629	Ventricular septal defect
OMIM:219730	CRB2	286204	HP:0002119	Ventriculomegaly
OMIM:219730	CRB2	286204	HP:0001561	Polyhydramnios
OMIM:219730	CRB2	286204	HP:0000238	Hydrocephalus
OMIM:219730	CRB2	286204	HP:0001622	Premature birth
OMIM:615483	PDGFB	5155	HP:0001260	Dysarthria
OMIM:615483	PDGFB	5155	HP:0000741	Apathy
OMIM:615483	PDGFB	5155	HP:0001300	Parkinsonism
OMIM:615483	PDGFB	5155	HP:0002076	Migraine
OMIM:615483	PDGFB	5155	HP:0100034	Motor tics
OMIM:615483	PDGFB	5155	HP:0002072	Chorea
OMIM:615483	PDGFB	5155	HP:0000739	Anxiety
OMIM:615483	PDGFB	5155	HP:0000006	Autosomal dominant inheritance
OMIM:615483	PDGFB	5155	HP:0003676	Progressive
OMIM:615483	PDGFB	5155	HP:0000726	Dementia
OMIM:615483	PDGFB	5155	HP:0000709	Psychosis
OMIM:615483	PDGFB	5155	HP:0002135	Basal ganglia calcification
OMIM:615483	PDGFB	5155	HP:0002321	Vertigo
OMIM:615483	PDGFB	5155	HP:0100660	Dyskinesia
OMIM:615483	PDGFB	5155	HP:0002305	Athetosis
OMIM:615483	PDGFRB	5159	HP:0001260	Dysarthria
OMIM:615483	PDGFRB	5159	HP:0000741	Apathy
OMIM:615483	PDGFRB	5159	HP:0001300	Parkinsonism
OMIM:615483	PDGFRB	5159	HP:0002076	Migraine
OMIM:615483	PDGFRB	5159	HP:0100034	Motor tics
OMIM:615483	PDGFRB	5159	HP:0002072	Chorea
OMIM:615483	PDGFRB	5159	HP:0000739	Anxiety
OMIM:615483	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:615483	PDGFRB	5159	HP:0003676	Progressive
OMIM:615483	PDGFRB	5159	HP:0000726	Dementia
OMIM:615483	PDGFRB	5159	HP:0000709	Psychosis
OMIM:615483	PDGFRB	5159	HP:0002135	Basal ganglia calcification
OMIM:615483	PDGFRB	5159	HP:0002321	Vertigo
OMIM:615483	PDGFRB	5159	HP:0100660	Dyskinesia
OMIM:615483	PDGFRB	5159	HP:0002305	Athetosis
OMIM:615483	XPR1	9213	HP:0001260	Dysarthria
OMIM:615483	XPR1	9213	HP:0000741	Apathy
OMIM:615483	XPR1	9213	HP:0001300	Parkinsonism
OMIM:615483	XPR1	9213	HP:0002076	Migraine
OMIM:615483	XPR1	9213	HP:0100034	Motor tics
OMIM:615483	XPR1	9213	HP:0002072	Chorea
OMIM:615483	XPR1	9213	HP:0000739	Anxiety
OMIM:615483	XPR1	9213	HP:0000006	Autosomal dominant inheritance
OMIM:615483	XPR1	9213	HP:0003676	Progressive
OMIM:615483	XPR1	9213	HP:0000726	Dementia
OMIM:615483	XPR1	9213	HP:0000709	Psychosis
OMIM:615483	XPR1	9213	HP:0002135	Basal ganglia calcification
OMIM:615483	XPR1	9213	HP:0002321	Vertigo
OMIM:615483	XPR1	9213	HP:0100660	Dyskinesia
OMIM:615483	XPR1	9213	HP:0002305	Athetosis
OMIM:615483	SLC20A2	6575	HP:0001260	Dysarthria
OMIM:615483	SLC20A2	6575	HP:0000741	Apathy
OMIM:615483	SLC20A2	6575	HP:0001300	Parkinsonism
OMIM:615483	SLC20A2	6575	HP:0002076	Migraine
OMIM:615483	SLC20A2	6575	HP:0100034	Motor tics
OMIM:615483	SLC20A2	6575	HP:0002072	Chorea
OMIM:615483	SLC20A2	6575	HP:0000739	Anxiety
OMIM:615483	SLC20A2	6575	HP:0000006	Autosomal dominant inheritance
OMIM:615483	SLC20A2	6575	HP:0003676	Progressive
OMIM:615483	SLC20A2	6575	HP:0000726	Dementia
OMIM:615483	SLC20A2	6575	HP:0000709	Psychosis
OMIM:615483	SLC20A2	6575	HP:0002135	Basal ganglia calcification
OMIM:615483	SLC20A2	6575	HP:0002321	Vertigo
OMIM:615483	SLC20A2	6575	HP:0100660	Dyskinesia
OMIM:615483	SLC20A2	6575	HP:0002305	Athetosis
OMIM:146400	DSPP	1834	HP:0000006	Autosomal dominant inheritance
OMIM:614700	CD19	930	HP:0001510	Growth delay
OMIM:614700	CD19	930	HP:0000007	Autosomal recessive inheritance
OMIM:614700	CD19	930	HP:0001873	Thrombocytopenia
OMIM:614700	CD19	930	HP:0001876	Pancytopenia
OMIM:614700	CD19	930	HP:0002110	Bronchiectasis
OMIM:614700	CD19	930	HP:0002721	Immunodeficiency
OMIM:614700	CD19	930	HP:0000821	Hypothyroidism
OMIM:614700	CD19	930	HP:0001875	Neutropenia
OMIM:614700	CD19	930	HP:0002099	Asthma
OMIM:614700	CD19	930	HP:0000509	Conjunctivitis
OMIM:614700	CD19	930	HP:0003676	Progressive
OMIM:614700	CD19	930	HP:0002716	Lymphadenopathy
OMIM:614700	CD19	930	HP:0001508	Failure to thrive
OMIM:614700	CD19	930	HP:0011108	Recurrent sinusitis
OMIM:614700	CD19	930	HP:0002090	Pneumonia
OMIM:614700	CD19	930	HP:0001369	Arthritis
OMIM:614700	CD19	930	HP:0000403	Recurrent otitis media
OMIM:614700	CD19	930	HP:0002583	Colitis
OMIM:614700	CD19	930	HP:0002028	Chronic diarrhea
OMIM:614700	TNFRSF13C	115650	HP:0001510	Growth delay
OMIM:614700	TNFRSF13C	115650	HP:0000007	Autosomal recessive inheritance
OMIM:614700	TNFRSF13C	115650	HP:0001873	Thrombocytopenia
OMIM:614700	TNFRSF13C	115650	HP:0001876	Pancytopenia
OMIM:614700	TNFRSF13C	115650	HP:0002110	Bronchiectasis
OMIM:614700	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:614700	TNFRSF13C	115650	HP:0000821	Hypothyroidism
OMIM:614700	TNFRSF13C	115650	HP:0001875	Neutropenia
OMIM:614700	TNFRSF13C	115650	HP:0002099	Asthma
OMIM:614700	TNFRSF13C	115650	HP:0000509	Conjunctivitis
OMIM:614700	TNFRSF13C	115650	HP:0003676	Progressive
OMIM:614700	TNFRSF13C	115650	HP:0002716	Lymphadenopathy
OMIM:614700	TNFRSF13C	115650	HP:0001508	Failure to thrive
OMIM:614700	TNFRSF13C	115650	HP:0011108	Recurrent sinusitis
OMIM:614700	TNFRSF13C	115650	HP:0002090	Pneumonia
OMIM:614700	TNFRSF13C	115650	HP:0001369	Arthritis
OMIM:614700	TNFRSF13C	115650	HP:0000403	Recurrent otitis media
OMIM:614700	TNFRSF13C	115650	HP:0002583	Colitis
OMIM:614700	TNFRSF13C	115650	HP:0002028	Chronic diarrhea
OMIM:614700	MS4A1	931	HP:0001510	Growth delay
OMIM:614700	MS4A1	931	HP:0000007	Autosomal recessive inheritance
OMIM:614700	MS4A1	931	HP:0001873	Thrombocytopenia
OMIM:614700	MS4A1	931	HP:0001876	Pancytopenia
OMIM:614700	MS4A1	931	HP:0002110	Bronchiectasis
OMIM:614700	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:614700	MS4A1	931	HP:0000821	Hypothyroidism
OMIM:614700	MS4A1	931	HP:0001875	Neutropenia
OMIM:614700	MS4A1	931	HP:0002099	Asthma
OMIM:614700	MS4A1	931	HP:0000509	Conjunctivitis
OMIM:614700	MS4A1	931	HP:0003676	Progressive
OMIM:614700	MS4A1	931	HP:0002716	Lymphadenopathy
OMIM:614700	MS4A1	931	HP:0001508	Failure to thrive
OMIM:614700	MS4A1	931	HP:0011108	Recurrent sinusitis
OMIM:614700	MS4A1	931	HP:0002090	Pneumonia
OMIM:614700	MS4A1	931	HP:0001369	Arthritis
OMIM:614700	MS4A1	931	HP:0000403	Recurrent otitis media
OMIM:614700	MS4A1	931	HP:0002583	Colitis
OMIM:614700	MS4A1	931	HP:0002028	Chronic diarrhea
OMIM:614700	CR2	1380	HP:0001510	Growth delay
OMIM:614700	CR2	1380	HP:0000007	Autosomal recessive inheritance
OMIM:614700	CR2	1380	HP:0001873	Thrombocytopenia
OMIM:614700	CR2	1380	HP:0001876	Pancytopenia
OMIM:614700	CR2	1380	HP:0002110	Bronchiectasis
OMIM:614700	CR2	1380	HP:0002721	Immunodeficiency
OMIM:614700	CR2	1380	HP:0000821	Hypothyroidism
OMIM:614700	CR2	1380	HP:0001875	Neutropenia
OMIM:614700	CR2	1380	HP:0002099	Asthma
OMIM:614700	CR2	1380	HP:0000509	Conjunctivitis
OMIM:614700	CR2	1380	HP:0003676	Progressive
OMIM:614700	CR2	1380	HP:0002716	Lymphadenopathy
OMIM:614700	CR2	1380	HP:0001508	Failure to thrive
OMIM:614700	CR2	1380	HP:0011108	Recurrent sinusitis
OMIM:614700	CR2	1380	HP:0002090	Pneumonia
OMIM:614700	CR2	1380	HP:0001369	Arthritis
OMIM:614700	CR2	1380	HP:0000403	Recurrent otitis media
OMIM:614700	CR2	1380	HP:0002583	Colitis
OMIM:614700	CR2	1380	HP:0002028	Chronic diarrhea
OMIM:614700	TNFSF12	8742	HP:0001510	Growth delay
OMIM:614700	TNFSF12	8742	HP:0000007	Autosomal recessive inheritance
OMIM:614700	TNFSF12	8742	HP:0001873	Thrombocytopenia
OMIM:614700	TNFSF12	8742	HP:0001876	Pancytopenia
OMIM:614700	TNFSF12	8742	HP:0002110	Bronchiectasis
OMIM:614700	TNFSF12	8742	HP:0002721	Immunodeficiency
OMIM:614700	TNFSF12	8742	HP:0000821	Hypothyroidism
OMIM:614700	TNFSF12	8742	HP:0001875	Neutropenia
OMIM:614700	TNFSF12	8742	HP:0002099	Asthma
OMIM:614700	TNFSF12	8742	HP:0000509	Conjunctivitis
OMIM:614700	TNFSF12	8742	HP:0003676	Progressive
OMIM:614700	TNFSF12	8742	HP:0002716	Lymphadenopathy
OMIM:614700	TNFSF12	8742	HP:0001508	Failure to thrive
OMIM:614700	TNFSF12	8742	HP:0011108	Recurrent sinusitis
OMIM:614700	TNFSF12	8742	HP:0002090	Pneumonia
OMIM:614700	TNFSF12	8742	HP:0001369	Arthritis
OMIM:614700	TNFSF12	8742	HP:0000403	Recurrent otitis media
OMIM:614700	TNFSF12	8742	HP:0002583	Colitis
OMIM:614700	TNFSF12	8742	HP:0002028	Chronic diarrhea
OMIM:614700	NFKB1	4790	HP:0001510	Growth delay
OMIM:614700	NFKB1	4790	HP:0000007	Autosomal recessive inheritance
OMIM:614700	NFKB1	4790	HP:0001873	Thrombocytopenia
OMIM:614700	NFKB1	4790	HP:0001876	Pancytopenia
OMIM:614700	NFKB1	4790	HP:0002110	Bronchiectasis
OMIM:614700	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:614700	NFKB1	4790	HP:0000821	Hypothyroidism
OMIM:614700	NFKB1	4790	HP:0001875	Neutropenia
OMIM:614700	NFKB1	4790	HP:0002099	Asthma
OMIM:614700	NFKB1	4790	HP:0000509	Conjunctivitis
OMIM:614700	NFKB1	4790	HP:0003676	Progressive
OMIM:614700	NFKB1	4790	HP:0002716	Lymphadenopathy
OMIM:614700	NFKB1	4790	HP:0001508	Failure to thrive
OMIM:614700	NFKB1	4790	HP:0011108	Recurrent sinusitis
OMIM:614700	NFKB1	4790	HP:0002090	Pneumonia
OMIM:614700	NFKB1	4790	HP:0001369	Arthritis
OMIM:614700	NFKB1	4790	HP:0000403	Recurrent otitis media
OMIM:614700	NFKB1	4790	HP:0002583	Colitis
OMIM:614700	NFKB1	4790	HP:0002028	Chronic diarrhea
OMIM:614700	TNFRSF13B	23495	HP:0001510	Growth delay
OMIM:614700	TNFRSF13B	23495	HP:0000007	Autosomal recessive inheritance
OMIM:614700	TNFRSF13B	23495	HP:0001873	Thrombocytopenia
OMIM:614700	TNFRSF13B	23495	HP:0001876	Pancytopenia
OMIM:614700	TNFRSF13B	23495	HP:0002110	Bronchiectasis
OMIM:614700	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:614700	TNFRSF13B	23495	HP:0000821	Hypothyroidism
OMIM:614700	TNFRSF13B	23495	HP:0001875	Neutropenia
OMIM:614700	TNFRSF13B	23495	HP:0002099	Asthma
OMIM:614700	TNFRSF13B	23495	HP:0000509	Conjunctivitis
OMIM:614700	TNFRSF13B	23495	HP:0003676	Progressive
OMIM:614700	TNFRSF13B	23495	HP:0002716	Lymphadenopathy
OMIM:614700	TNFRSF13B	23495	HP:0001508	Failure to thrive
OMIM:614700	TNFRSF13B	23495	HP:0011108	Recurrent sinusitis
OMIM:614700	TNFRSF13B	23495	HP:0002090	Pneumonia
OMIM:614700	TNFRSF13B	23495	HP:0001369	Arthritis
OMIM:614700	TNFRSF13B	23495	HP:0000403	Recurrent otitis media
OMIM:614700	TNFRSF13B	23495	HP:0002583	Colitis
OMIM:614700	TNFRSF13B	23495	HP:0002028	Chronic diarrhea
OMIM:614700	NFKB2	4791	HP:0001510	Growth delay
OMIM:614700	NFKB2	4791	HP:0000007	Autosomal recessive inheritance
OMIM:614700	NFKB2	4791	HP:0001873	Thrombocytopenia
OMIM:614700	NFKB2	4791	HP:0001876	Pancytopenia
OMIM:614700	NFKB2	4791	HP:0002110	Bronchiectasis
OMIM:614700	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:614700	NFKB2	4791	HP:0000821	Hypothyroidism
OMIM:614700	NFKB2	4791	HP:0001875	Neutropenia
OMIM:614700	NFKB2	4791	HP:0002099	Asthma
OMIM:614700	NFKB2	4791	HP:0000509	Conjunctivitis
OMIM:614700	NFKB2	4791	HP:0003676	Progressive
OMIM:614700	NFKB2	4791	HP:0002716	Lymphadenopathy
OMIM:614700	NFKB2	4791	HP:0001508	Failure to thrive
OMIM:614700	NFKB2	4791	HP:0011108	Recurrent sinusitis
OMIM:614700	NFKB2	4791	HP:0002090	Pneumonia
OMIM:614700	NFKB2	4791	HP:0001369	Arthritis
OMIM:614700	NFKB2	4791	HP:0000403	Recurrent otitis media
OMIM:614700	NFKB2	4791	HP:0002583	Colitis
OMIM:614700	NFKB2	4791	HP:0002028	Chronic diarrhea
OMIM:614700	LRBA	987	HP:0001510	Growth delay
OMIM:614700	LRBA	987	HP:0000007	Autosomal recessive inheritance
OMIM:614700	LRBA	987	HP:0001873	Thrombocytopenia
OMIM:614700	LRBA	987	HP:0001876	Pancytopenia
OMIM:614700	LRBA	987	HP:0002110	Bronchiectasis
OMIM:614700	LRBA	987	HP:0002721	Immunodeficiency
OMIM:614700	LRBA	987	HP:0000821	Hypothyroidism
OMIM:614700	LRBA	987	HP:0001875	Neutropenia
OMIM:614700	LRBA	987	HP:0002099	Asthma
OMIM:614700	LRBA	987	HP:0000509	Conjunctivitis
OMIM:614700	LRBA	987	HP:0003676	Progressive
OMIM:614700	LRBA	987	HP:0002716	Lymphadenopathy
OMIM:614700	LRBA	987	HP:0001508	Failure to thrive
OMIM:614700	LRBA	987	HP:0011108	Recurrent sinusitis
OMIM:614700	LRBA	987	HP:0002090	Pneumonia
OMIM:614700	LRBA	987	HP:0001369	Arthritis
OMIM:614700	LRBA	987	HP:0000403	Recurrent otitis media
OMIM:614700	LRBA	987	HP:0002583	Colitis
OMIM:614700	LRBA	987	HP:0002028	Chronic diarrhea
OMIM:614700	ICOS	29851	HP:0001510	Growth delay
OMIM:614700	ICOS	29851	HP:0000007	Autosomal recessive inheritance
OMIM:614700	ICOS	29851	HP:0001873	Thrombocytopenia
OMIM:614700	ICOS	29851	HP:0001876	Pancytopenia
OMIM:614700	ICOS	29851	HP:0002110	Bronchiectasis
OMIM:614700	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:614700	ICOS	29851	HP:0000821	Hypothyroidism
OMIM:614700	ICOS	29851	HP:0001875	Neutropenia
OMIM:614700	ICOS	29851	HP:0002099	Asthma
OMIM:614700	ICOS	29851	HP:0000509	Conjunctivitis
OMIM:614700	ICOS	29851	HP:0003676	Progressive
OMIM:614700	ICOS	29851	HP:0002716	Lymphadenopathy
OMIM:614700	ICOS	29851	HP:0001508	Failure to thrive
OMIM:614700	ICOS	29851	HP:0011108	Recurrent sinusitis
OMIM:614700	ICOS	29851	HP:0002090	Pneumonia
OMIM:614700	ICOS	29851	HP:0001369	Arthritis
OMIM:614700	ICOS	29851	HP:0000403	Recurrent otitis media
OMIM:614700	ICOS	29851	HP:0002583	Colitis
OMIM:614700	ICOS	29851	HP:0002028	Chronic diarrhea
OMIM:614700	PRKCD	5580	HP:0001510	Growth delay
OMIM:614700	PRKCD	5580	HP:0000007	Autosomal recessive inheritance
OMIM:614700	PRKCD	5580	HP:0001873	Thrombocytopenia
OMIM:614700	PRKCD	5580	HP:0001876	Pancytopenia
OMIM:614700	PRKCD	5580	HP:0002110	Bronchiectasis
OMIM:614700	PRKCD	5580	HP:0002721	Immunodeficiency
OMIM:614700	PRKCD	5580	HP:0000821	Hypothyroidism
OMIM:614700	PRKCD	5580	HP:0001875	Neutropenia
OMIM:614700	PRKCD	5580	HP:0002099	Asthma
OMIM:614700	PRKCD	5580	HP:0000509	Conjunctivitis
OMIM:614700	PRKCD	5580	HP:0003676	Progressive
OMIM:614700	PRKCD	5580	HP:0002716	Lymphadenopathy
OMIM:614700	PRKCD	5580	HP:0001508	Failure to thrive
OMIM:614700	PRKCD	5580	HP:0011108	Recurrent sinusitis
OMIM:614700	PRKCD	5580	HP:0002090	Pneumonia
OMIM:614700	PRKCD	5580	HP:0001369	Arthritis
OMIM:614700	PRKCD	5580	HP:0000403	Recurrent otitis media
OMIM:614700	PRKCD	5580	HP:0002583	Colitis
OMIM:614700	PRKCD	5580	HP:0002028	Chronic diarrhea
OMIM:614700	CD81	975	HP:0001510	Growth delay
OMIM:614700	CD81	975	HP:0000007	Autosomal recessive inheritance
OMIM:614700	CD81	975	HP:0001873	Thrombocytopenia
OMIM:614700	CD81	975	HP:0001876	Pancytopenia
OMIM:614700	CD81	975	HP:0002110	Bronchiectasis
OMIM:614700	CD81	975	HP:0002721	Immunodeficiency
OMIM:614700	CD81	975	HP:0000821	Hypothyroidism
OMIM:614700	CD81	975	HP:0001875	Neutropenia
OMIM:614700	CD81	975	HP:0002099	Asthma
OMIM:614700	CD81	975	HP:0000509	Conjunctivitis
OMIM:614700	CD81	975	HP:0003676	Progressive
OMIM:614700	CD81	975	HP:0002716	Lymphadenopathy
OMIM:614700	CD81	975	HP:0001508	Failure to thrive
OMIM:614700	CD81	975	HP:0011108	Recurrent sinusitis
OMIM:614700	CD81	975	HP:0002090	Pneumonia
OMIM:614700	CD81	975	HP:0001369	Arthritis
OMIM:614700	CD81	975	HP:0000403	Recurrent otitis media
OMIM:614700	CD81	975	HP:0002583	Colitis
OMIM:614700	CD81	975	HP:0002028	Chronic diarrhea
OMIM:304030	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:304030	GUCA1A	2978	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304030	GUCA1A	2978	HP:0000541	Retinal detachment
OMIM:304030	GUCA1A	2978	HP:0003581	Adult onset
OMIM:304030	GUCA1A	2978	HP:0000572	Visual loss
OMIM:304030	CNGB3	54714	HP:0000548	Cone/cone-rod dystrophy
OMIM:304030	CNGB3	54714	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304030	CNGB3	54714	HP:0000541	Retinal detachment
OMIM:304030	CNGB3	54714	HP:0003581	Adult onset
OMIM:304030	CNGB3	54714	HP:0000572	Visual loss
OMIM:304030	PDE6C	5146	HP:0000548	Cone/cone-rod dystrophy
OMIM:304030	PDE6C	5146	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304030	PDE6C	5146	HP:0000541	Retinal detachment
OMIM:304030	PDE6C	5146	HP:0003581	Adult onset
OMIM:304030	PDE6C	5146	HP:0000572	Visual loss
OMIM:304030	GNAT2	2780	HP:0000548	Cone/cone-rod dystrophy
OMIM:304030	GNAT2	2780	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304030	GNAT2	2780	HP:0000541	Retinal detachment
OMIM:304030	GNAT2	2780	HP:0003581	Adult onset
OMIM:304030	GNAT2	2780	HP:0000572	Visual loss
OMIM:601072	MSRB3	253827	HP:0011463	Childhood onset
OMIM:601072	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:601072	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:601072	BSND	7809	HP:0011463	Childhood onset
OMIM:601072	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:601072	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:601072	ESPN	83715	HP:0011463	Childhood onset
OMIM:601072	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:601072	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:601072	DFNB31	25861	HP:0011463	Childhood onset
OMIM:601072	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:601072	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:601072	OTOA	146183	HP:0011463	Childhood onset
OMIM:601072	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:601072	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:601072	GJA1	2697	HP:0011463	Childhood onset
OMIM:601072	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:601072	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:601072	MET	4233	HP:0011463	Childhood onset
OMIM:601072	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:601072	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:601072	CLDN14	23562	HP:0011463	Childhood onset
OMIM:601072	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:601072	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:601072	HGF	3082	HP:0011463	Childhood onset
OMIM:601072	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:601072	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:601072	PNPT1	87178	HP:0011463	Childhood onset
OMIM:601072	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:601072	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:601072	EPS8	2059	HP:0011463	Childhood onset
OMIM:601072	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:601072	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:601072	MYO3A	53904	HP:0011463	Childhood onset
OMIM:601072	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:601072	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:601072	DCDC2	51473	HP:0011463	Childhood onset
OMIM:601072	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:601072	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:601072	GJB2	2706	HP:0011463	Childhood onset
OMIM:601072	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:601072	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:601072	GJB3	2707	HP:0011463	Childhood onset
OMIM:601072	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:601072	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:601072	CABP2	51475	HP:0011463	Childhood onset
OMIM:601072	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:601072	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:601072	GRXCR2	643226	HP:0011463	Childhood onset
OMIM:601072	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:601072	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:601072	SERPINB6	5269	HP:0011463	Childhood onset
OMIM:601072	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:601072	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:601072	COL11A2	1302	HP:0011463	Childhood onset
OMIM:601072	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:601072	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:601072	CIB2	10518	HP:0011463	Childhood onset
OMIM:601072	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:601072	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:601072	FAM65B	9750	HP:0011463	Childhood onset
OMIM:601072	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:601072	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:601072	KARS	3735	HP:0011463	Childhood onset
OMIM:601072	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:601072	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:601072	LOXHD1	125336	HP:0011463	Childhood onset
OMIM:601072	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:601072	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:601072	TMC1	117531	HP:0011463	Childhood onset
OMIM:601072	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:601072	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:601072	CLIC5	53405	HP:0011463	Childhood onset
OMIM:601072	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:601072	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:601072	OTOF	9381	HP:0011463	Childhood onset
OMIM:601072	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:601072	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:601072	MYO6	4646	HP:0011463	Childhood onset
OMIM:601072	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:601072	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:601072	TMIE	259236	HP:0011463	Childhood onset
OMIM:601072	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:601072	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:601072	MYO7A	4647	HP:0011463	Childhood onset
OMIM:601072	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:601072	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:601072	LRTOMT	220074	HP:0011463	Childhood onset
OMIM:601072	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:601072	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:601072	OTOGL	283310	HP:0011463	Childhood onset
OMIM:601072	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:601072	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:601072	TPRN	286262	HP:0011463	Childhood onset
OMIM:601072	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:601072	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:601072	SLC26A4	5172	HP:0011463	Childhood onset
OMIM:601072	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:601072	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:601072	GJB6	10804	HP:0011463	Childhood onset
OMIM:601072	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:601072	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:601072	DFNB59	494513	HP:0011463	Childhood onset
OMIM:601072	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:601072	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:601072	ESRRB	2103	HP:0011463	Childhood onset
OMIM:601072	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:601072	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:601072	TMPRSS3	64699	HP:0011463	Childhood onset
OMIM:601072	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:601072	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:601072	PTPRQ	374462	HP:0011463	Childhood onset
OMIM:601072	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:601072	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:601072	SLC26A5	375611	HP:0011463	Childhood onset
OMIM:601072	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:601072	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:601072	PCDH15	65217	HP:0011463	Childhood onset
OMIM:601072	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:601072	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:601072	TSPEAR	54084	HP:0011463	Childhood onset
OMIM:601072	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:601072	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:601072	LHFPL5	222662	HP:0011463	Childhood onset
OMIM:601072	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:601072	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:601072	TRIOBP	11078	HP:0011463	Childhood onset
OMIM:601072	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:601072	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:601072	CDH23	64072	HP:0011463	Childhood onset
OMIM:601072	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:601072	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:601072	RDX	5962	HP:0011463	Childhood onset
OMIM:601072	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:601072	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:601072	GPSM2	29899	HP:0011463	Childhood onset
OMIM:601072	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:601072	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:601072	ELMOD3	84173	HP:0011463	Childhood onset
OMIM:601072	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:601072	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:601072	ILDR1	286676	HP:0011463	Childhood onset
OMIM:601072	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:601072	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:601072	GRXCR1	389207	HP:0011463	Childhood onset
OMIM:601072	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:601072	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:601072	MARVELD2	153562	HP:0011463	Childhood onset
OMIM:601072	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:601072	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:601072	STRC	161497	HP:0011463	Childhood onset
OMIM:601072	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:601072	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:601072	SLITRK6	84189	HP:0011463	Childhood onset
OMIM:601072	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:601072	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:601072	TECTA	7007	HP:0011463	Childhood onset
OMIM:601072	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:601072	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:601072	MYO15A	51168	HP:0011463	Childhood onset
OMIM:601072	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:601072	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:601072	USH1C	10083	HP:0011463	Childhood onset
OMIM:601072	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:601072	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:601072	ADCY1	107	HP:0011463	Childhood onset
OMIM:601072	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:601072	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:601072	SYNE4	163183	HP:0011463	Childhood onset
OMIM:601072	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:601072	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:601072	GIPC3	126326	HP:0011463	Childhood onset
OMIM:601072	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:601072	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:601072	TBC1D24	57465	HP:0011463	Childhood onset
OMIM:601072	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:601072	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:601072	OTOG	340990	HP:0011463	Childhood onset
OMIM:601072	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:601072	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:612004	MASTL	84930	HP:0001873	Thrombocytopenia
OMIM:612004	MASTL	84930	HP:0000006	Autosomal dominant inheritance
OMIM:612004	ANKRD26	22852	HP:0001873	Thrombocytopenia
OMIM:612004	ANKRD26	22852	HP:0000006	Autosomal dominant inheritance
OMIM:612004	CYCS	54205	HP:0001873	Thrombocytopenia
OMIM:612004	CYCS	54205	HP:0000006	Autosomal dominant inheritance
OMIM:614055	ACAT2	39	HP:0001252	Muscular hypotonia
OMIM:614055	ACAT2	39	HP:0003542	Increased serum pyruvate
OMIM:614055	ACAT2	39	HP:0002072	Chorea
OMIM:614055	ACAT2	39	HP:0002151	Increased serum lactate
OMIM:614055	ACAT2	39	HP:0001263	Global developmental delay
ORPHANET:2254	TSEN54	283989	HP:0001276	Hypertonia
ORPHANET:2254	TSEN54	283989	HP:0000252	Microcephaly
ORPHANET:2254	TSEN54	283989	HP:0002120	Cerebral cortical atrophy
ORPHANET:2254	TSEN54	283989	HP:0001376	Limitation of joint mobility
ORPHANET:2254	TSEN54	283989	HP:0004097	Deviation of finger
ORPHANET:2254	TSEN54	283989	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2254	TSEN54	283989	HP:0001250	Seizures
ORPHANET:2254	EXOSC3	51010	HP:0001276	Hypertonia
ORPHANET:2254	EXOSC3	51010	HP:0000252	Microcephaly
ORPHANET:2254	EXOSC3	51010	HP:0002120	Cerebral cortical atrophy
ORPHANET:2254	EXOSC3	51010	HP:0001376	Limitation of joint mobility
ORPHANET:2254	EXOSC3	51010	HP:0004097	Deviation of finger
ORPHANET:2254	EXOSC3	51010	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2254	EXOSC3	51010	HP:0001250	Seizures
ORPHANET:2254	VRK1	7443	HP:0001276	Hypertonia
ORPHANET:2254	VRK1	7443	HP:0000252	Microcephaly
ORPHANET:2254	VRK1	7443	HP:0002120	Cerebral cortical atrophy
ORPHANET:2254	VRK1	7443	HP:0001376	Limitation of joint mobility
ORPHANET:2254	VRK1	7443	HP:0004097	Deviation of finger
ORPHANET:2254	VRK1	7443	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2254	VRK1	7443	HP:0001250	Seizures
ORPHANET:2254	EXOSC8	11340	HP:0001276	Hypertonia
ORPHANET:2254	EXOSC8	11340	HP:0000252	Microcephaly
ORPHANET:2254	EXOSC8	11340	HP:0002120	Cerebral cortical atrophy
ORPHANET:2254	EXOSC8	11340	HP:0001376	Limitation of joint mobility
ORPHANET:2254	EXOSC8	11340	HP:0004097	Deviation of finger
ORPHANET:2254	EXOSC8	11340	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2254	EXOSC8	11340	HP:0001250	Seizures
ORPHANET:2254	RARS2	57038	HP:0001276	Hypertonia
ORPHANET:2254	RARS2	57038	HP:0000252	Microcephaly
ORPHANET:2254	RARS2	57038	HP:0002120	Cerebral cortical atrophy
ORPHANET:2254	RARS2	57038	HP:0001376	Limitation of joint mobility
ORPHANET:2254	RARS2	57038	HP:0004097	Deviation of finger
ORPHANET:2254	RARS2	57038	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2254	RARS2	57038	HP:0001250	Seizures
OMIM:615948	C2CD3	26005	HP:0000506	Telecanthus
OMIM:615948	C2CD3	26005	HP:0002419	Molar tooth sign on MRI
OMIM:615948	C2CD3	26005	HP:0000582	Upslanted palpebral fissure
OMIM:615948	C2CD3	26005	HP:0001344	Absent speech
OMIM:615948	C2CD3	26005	HP:0000243	Trigonocephaly
OMIM:615948	C2CD3	26005	HP:0001999	Abnormal facial shape
OMIM:615948	C2CD3	26005	HP:0000175	Cleft palate
OMIM:615948	C2CD3	26005	HP:0001249	Intellectual disability
OMIM:615948	C2CD3	26005	HP:0000054	Micropenis
OMIM:615948	C2CD3	26005	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615948	C2CD3	26005	HP:0000252	Microcephaly
OMIM:615948	C2CD3	26005	HP:0100259	Postaxial polydactyly
OMIM:604393	RLBP1	6017	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RLBP1	6017	HP:0012043	Pendular nystagmus
OMIM:604393	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:604393	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:604393	RLBP1	6017	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RLBP1	6017	HP:0007401	Macular atrophy
OMIM:604393	RLBP1	6017	HP:0000563	Keratoconus
OMIM:604393	RLBP1	6017	HP:0007663	Reduced visual acuity
OMIM:604393	SPATA7	55812	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	SPATA7	55812	HP:0012043	Pendular nystagmus
OMIM:604393	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:604393	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:604393	SPATA7	55812	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:604393	SPATA7	55812	HP:0007401	Macular atrophy
OMIM:604393	SPATA7	55812	HP:0000563	Keratoconus
OMIM:604393	SPATA7	55812	HP:0007663	Reduced visual acuity
OMIM:604393	ARL6	84100	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	ARL6	84100	HP:0012043	Pendular nystagmus
OMIM:604393	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:604393	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	ARL6	84100	HP:0000662	Nyctalopia
OMIM:604393	ARL6	84100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:604393	ARL6	84100	HP:0007401	Macular atrophy
OMIM:604393	ARL6	84100	HP:0000563	Keratoconus
OMIM:604393	ARL6	84100	HP:0007663	Reduced visual acuity
OMIM:604393	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	UNC119	9094	HP:0012043	Pendular nystagmus
OMIM:604393	UNC119	9094	HP:0000543	Optic disc pallor
OMIM:604393	UNC119	9094	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	UNC119	9094	HP:0000662	Nyctalopia
OMIM:604393	UNC119	9094	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	UNC119	9094	HP:0000007	Autosomal recessive inheritance
OMIM:604393	UNC119	9094	HP:0007401	Macular atrophy
OMIM:604393	UNC119	9094	HP:0000563	Keratoconus
OMIM:604393	UNC119	9094	HP:0007663	Reduced visual acuity
OMIM:604393	CERKL	375298	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CERKL	375298	HP:0012043	Pendular nystagmus
OMIM:604393	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:604393	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CERKL	375298	HP:0000662	Nyctalopia
OMIM:604393	CERKL	375298	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CERKL	375298	HP:0007401	Macular atrophy
OMIM:604393	CERKL	375298	HP:0000563	Keratoconus
OMIM:604393	CERKL	375298	HP:0007663	Reduced visual acuity
OMIM:604393	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RPGRIP1	57096	HP:0012043	Pendular nystagmus
OMIM:604393	RPGRIP1	57096	HP:0000543	Optic disc pallor
OMIM:604393	RPGRIP1	57096	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RPGRIP1	57096	HP:0000662	Nyctalopia
OMIM:604393	RPGRIP1	57096	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RPGRIP1	57096	HP:0007401	Macular atrophy
OMIM:604393	RPGRIP1	57096	HP:0000563	Keratoconus
OMIM:604393	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:604393	LCA5	167691	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	LCA5	167691	HP:0012043	Pendular nystagmus
OMIM:604393	LCA5	167691	HP:0000543	Optic disc pallor
OMIM:604393	LCA5	167691	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	LCA5	167691	HP:0000662	Nyctalopia
OMIM:604393	LCA5	167691	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:604393	LCA5	167691	HP:0007401	Macular atrophy
OMIM:604393	LCA5	167691	HP:0000563	Keratoconus
OMIM:604393	LCA5	167691	HP:0007663	Reduced visual acuity
OMIM:604393	PRPF31	26121	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PRPF31	26121	HP:0012043	Pendular nystagmus
OMIM:604393	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:604393	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:604393	PRPF31	26121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PRPF31	26121	HP:0007401	Macular atrophy
OMIM:604393	PRPF31	26121	HP:0000563	Keratoconus
OMIM:604393	PRPF31	26121	HP:0007663	Reduced visual acuity
OMIM:604393	TTC8	123016	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	TTC8	123016	HP:0012043	Pendular nystagmus
OMIM:604393	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:604393	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	TTC8	123016	HP:0000662	Nyctalopia
OMIM:604393	TTC8	123016	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:604393	TTC8	123016	HP:0007401	Macular atrophy
OMIM:604393	TTC8	123016	HP:0000563	Keratoconus
OMIM:604393	TTC8	123016	HP:0007663	Reduced visual acuity
OMIM:604393	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PROM1	8842	HP:0012043	Pendular nystagmus
OMIM:604393	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:604393	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PROM1	8842	HP:0000662	Nyctalopia
OMIM:604393	PROM1	8842	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PROM1	8842	HP:0007401	Macular atrophy
OMIM:604393	PROM1	8842	HP:0000563	Keratoconus
OMIM:604393	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:604393	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CACNA1F	778	HP:0012043	Pendular nystagmus
OMIM:604393	CACNA1F	778	HP:0000543	Optic disc pallor
OMIM:604393	CACNA1F	778	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CACNA1F	778	HP:0000662	Nyctalopia
OMIM:604393	CACNA1F	778	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CACNA1F	778	HP:0007401	Macular atrophy
OMIM:604393	CACNA1F	778	HP:0000563	Keratoconus
OMIM:604393	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:604393	LRAT	9227	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	LRAT	9227	HP:0012043	Pendular nystagmus
OMIM:604393	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:604393	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	LRAT	9227	HP:0000662	Nyctalopia
OMIM:604393	LRAT	9227	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:604393	LRAT	9227	HP:0007401	Macular atrophy
OMIM:604393	LRAT	9227	HP:0000563	Keratoconus
OMIM:604393	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:604393	IFT140	9742	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	IFT140	9742	HP:0012043	Pendular nystagmus
OMIM:604393	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:604393	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	IFT140	9742	HP:0000662	Nyctalopia
OMIM:604393	IFT140	9742	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:604393	IFT140	9742	HP:0007401	Macular atrophy
OMIM:604393	IFT140	9742	HP:0000563	Keratoconus
OMIM:604393	IFT140	9742	HP:0007663	Reduced visual acuity
OMIM:604393	BEST1	7439	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	BEST1	7439	HP:0012043	Pendular nystagmus
OMIM:604393	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:604393	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	BEST1	7439	HP:0000662	Nyctalopia
OMIM:604393	BEST1	7439	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:604393	BEST1	7439	HP:0007401	Macular atrophy
OMIM:604393	BEST1	7439	HP:0000563	Keratoconus
OMIM:604393	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:604393	NEK2	4751	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	NEK2	4751	HP:0012043	Pendular nystagmus
OMIM:604393	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:604393	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	NEK2	4751	HP:0000662	Nyctalopia
OMIM:604393	NEK2	4751	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:604393	NEK2	4751	HP:0007401	Macular atrophy
OMIM:604393	NEK2	4751	HP:0000563	Keratoconus
OMIM:604393	NEK2	4751	HP:0007663	Reduced visual acuity
OMIM:604393	ARL2BP	23568	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	ARL2BP	23568	HP:0012043	Pendular nystagmus
OMIM:604393	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:604393	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:604393	ARL2BP	23568	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:604393	ARL2BP	23568	HP:0007401	Macular atrophy
OMIM:604393	ARL2BP	23568	HP:0000563	Keratoconus
OMIM:604393	ARL2BP	23568	HP:0007663	Reduced visual acuity
OMIM:604393	NR2E3	10002	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	NR2E3	10002	HP:0012043	Pendular nystagmus
OMIM:604393	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:604393	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:604393	NR2E3	10002	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:604393	NR2E3	10002	HP:0007401	Macular atrophy
OMIM:604393	NR2E3	10002	HP:0000563	Keratoconus
OMIM:604393	NR2E3	10002	HP:0007663	Reduced visual acuity
OMIM:604393	EYS	346007	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	EYS	346007	HP:0012043	Pendular nystagmus
OMIM:604393	EYS	346007	HP:0000543	Optic disc pallor
OMIM:604393	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	EYS	346007	HP:0000662	Nyctalopia
OMIM:604393	EYS	346007	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:604393	EYS	346007	HP:0007401	Macular atrophy
OMIM:604393	EYS	346007	HP:0000563	Keratoconus
OMIM:604393	EYS	346007	HP:0007663	Reduced visual acuity
OMIM:604393	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CACNA2D4	93589	HP:0012043	Pendular nystagmus
OMIM:604393	CACNA2D4	93589	HP:0000543	Optic disc pallor
OMIM:604393	CACNA2D4	93589	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CACNA2D4	93589	HP:0000662	Nyctalopia
OMIM:604393	CACNA2D4	93589	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CACNA2D4	93589	HP:0007401	Macular atrophy
OMIM:604393	CACNA2D4	93589	HP:0000563	Keratoconus
OMIM:604393	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:604393	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RAB28	9364	HP:0012043	Pendular nystagmus
OMIM:604393	RAB28	9364	HP:0000543	Optic disc pallor
OMIM:604393	RAB28	9364	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RAB28	9364	HP:0000662	Nyctalopia
OMIM:604393	RAB28	9364	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RAB28	9364	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RAB28	9364	HP:0007401	Macular atrophy
OMIM:604393	RAB28	9364	HP:0000563	Keratoconus
OMIM:604393	RAB28	9364	HP:0007663	Reduced visual acuity
OMIM:604393	MAK	4117	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	MAK	4117	HP:0012043	Pendular nystagmus
OMIM:604393	MAK	4117	HP:0000543	Optic disc pallor
OMIM:604393	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	MAK	4117	HP:0000662	Nyctalopia
OMIM:604393	MAK	4117	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:604393	MAK	4117	HP:0007401	Macular atrophy
OMIM:604393	MAK	4117	HP:0000563	Keratoconus
OMIM:604393	MAK	4117	HP:0007663	Reduced visual acuity
OMIM:604393	SAG	6295	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	SAG	6295	HP:0012043	Pendular nystagmus
OMIM:604393	SAG	6295	HP:0000543	Optic disc pallor
OMIM:604393	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	SAG	6295	HP:0000662	Nyctalopia
OMIM:604393	SAG	6295	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:604393	SAG	6295	HP:0007401	Macular atrophy
OMIM:604393	SAG	6295	HP:0000563	Keratoconus
OMIM:604393	SAG	6295	HP:0007663	Reduced visual acuity
OMIM:604393	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	ABCA4	24	HP:0012043	Pendular nystagmus
OMIM:604393	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:604393	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	ABCA4	24	HP:0000662	Nyctalopia
OMIM:604393	ABCA4	24	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:604393	ABCA4	24	HP:0007401	Macular atrophy
OMIM:604393	ABCA4	24	HP:0000563	Keratoconus
OMIM:604393	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:604393	PDE6A	5145	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PDE6A	5145	HP:0012043	Pendular nystagmus
OMIM:604393	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:604393	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:604393	PDE6A	5145	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PDE6A	5145	HP:0007401	Macular atrophy
OMIM:604393	PDE6A	5145	HP:0000563	Keratoconus
OMIM:604393	PDE6A	5145	HP:0007663	Reduced visual acuity
OMIM:604393	PDE6G	5148	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PDE6G	5148	HP:0012043	Pendular nystagmus
OMIM:604393	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:604393	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:604393	PDE6G	5148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PDE6G	5148	HP:0007401	Macular atrophy
OMIM:604393	PDE6G	5148	HP:0000563	Keratoconus
OMIM:604393	PDE6G	5148	HP:0007663	Reduced visual acuity
OMIM:604393	IMPDH1	3614	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	IMPDH1	3614	HP:0012043	Pendular nystagmus
OMIM:604393	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:604393	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:604393	IMPDH1	3614	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:604393	IMPDH1	3614	HP:0007401	Macular atrophy
OMIM:604393	IMPDH1	3614	HP:0000563	Keratoconus
OMIM:604393	IMPDH1	3614	HP:0007663	Reduced visual acuity
OMIM:604393	OFD1	8481	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	OFD1	8481	HP:0012043	Pendular nystagmus
OMIM:604393	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:604393	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	OFD1	8481	HP:0000662	Nyctalopia
OMIM:604393	OFD1	8481	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:604393	OFD1	8481	HP:0007401	Macular atrophy
OMIM:604393	OFD1	8481	HP:0000563	Keratoconus
OMIM:604393	OFD1	8481	HP:0007663	Reduced visual acuity
OMIM:604393	NMNAT1	64802	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	NMNAT1	64802	HP:0012043	Pendular nystagmus
OMIM:604393	NMNAT1	64802	HP:0000543	Optic disc pallor
OMIM:604393	NMNAT1	64802	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	NMNAT1	64802	HP:0000662	Nyctalopia
OMIM:604393	NMNAT1	64802	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:604393	NMNAT1	64802	HP:0007401	Macular atrophy
OMIM:604393	NMNAT1	64802	HP:0000563	Keratoconus
OMIM:604393	NMNAT1	64802	HP:0007663	Reduced visual acuity
OMIM:604393	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	GUCA1A	2978	HP:0012043	Pendular nystagmus
OMIM:604393	GUCA1A	2978	HP:0000543	Optic disc pallor
OMIM:604393	GUCA1A	2978	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	GUCA1A	2978	HP:0000662	Nyctalopia
OMIM:604393	GUCA1A	2978	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	GUCA1A	2978	HP:0000007	Autosomal recessive inheritance
OMIM:604393	GUCA1A	2978	HP:0007401	Macular atrophy
OMIM:604393	GUCA1A	2978	HP:0000563	Keratoconus
OMIM:604393	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:604393	GUCA1B	2979	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	GUCA1B	2979	HP:0012043	Pendular nystagmus
OMIM:604393	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:604393	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:604393	GUCA1B	2979	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:604393	GUCA1B	2979	HP:0007401	Macular atrophy
OMIM:604393	GUCA1B	2979	HP:0000563	Keratoconus
OMIM:604393	GUCA1B	2979	HP:0007663	Reduced visual acuity
OMIM:604393	NRL	4901	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	NRL	4901	HP:0012043	Pendular nystagmus
OMIM:604393	NRL	4901	HP:0000543	Optic disc pallor
OMIM:604393	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	NRL	4901	HP:0000662	Nyctalopia
OMIM:604393	NRL	4901	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:604393	NRL	4901	HP:0007401	Macular atrophy
OMIM:604393	NRL	4901	HP:0000563	Keratoconus
OMIM:604393	NRL	4901	HP:0007663	Reduced visual acuity
OMIM:604393	PDE6B	5158	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PDE6B	5158	HP:0012043	Pendular nystagmus
OMIM:604393	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:604393	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:604393	PDE6B	5158	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PDE6B	5158	HP:0007401	Macular atrophy
OMIM:604393	PDE6B	5158	HP:0000563	Keratoconus
OMIM:604393	PDE6B	5158	HP:0007663	Reduced visual acuity
OMIM:604393	KLHL7	55975	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	KLHL7	55975	HP:0012043	Pendular nystagmus
OMIM:604393	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:604393	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:604393	KLHL7	55975	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:604393	KLHL7	55975	HP:0007401	Macular atrophy
OMIM:604393	KLHL7	55975	HP:0000563	Keratoconus
OMIM:604393	KLHL7	55975	HP:0007663	Reduced visual acuity
OMIM:604393	PRPF4	9128	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PRPF4	9128	HP:0012043	Pendular nystagmus
OMIM:604393	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:604393	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:604393	PRPF4	9128	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PRPF4	9128	HP:0007401	Macular atrophy
OMIM:604393	PRPF4	9128	HP:0000563	Keratoconus
OMIM:604393	PRPF4	9128	HP:0007663	Reduced visual acuity
OMIM:604393	PRPF3	9129	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PRPF3	9129	HP:0012043	Pendular nystagmus
OMIM:604393	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:604393	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:604393	PRPF3	9129	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PRPF3	9129	HP:0007401	Macular atrophy
OMIM:604393	PRPF3	9129	HP:0000563	Keratoconus
OMIM:604393	PRPF3	9129	HP:0007663	Reduced visual acuity
OMIM:604393	FAM161A	84140	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	FAM161A	84140	HP:0012043	Pendular nystagmus
OMIM:604393	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:604393	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:604393	FAM161A	84140	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:604393	FAM161A	84140	HP:0007401	Macular atrophy
OMIM:604393	FAM161A	84140	HP:0000563	Keratoconus
OMIM:604393	FAM161A	84140	HP:0007663	Reduced visual acuity
OMIM:604393	IFT172	26160	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	IFT172	26160	HP:0012043	Pendular nystagmus
OMIM:604393	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:604393	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	IFT172	26160	HP:0000662	Nyctalopia
OMIM:604393	IFT172	26160	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:604393	IFT172	26160	HP:0007401	Macular atrophy
OMIM:604393	IFT172	26160	HP:0000563	Keratoconus
OMIM:604393	IFT172	26160	HP:0007663	Reduced visual acuity
OMIM:604393	KIZ	55857	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	KIZ	55857	HP:0012043	Pendular nystagmus
OMIM:604393	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:604393	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	KIZ	55857	HP:0000662	Nyctalopia
OMIM:604393	KIZ	55857	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:604393	KIZ	55857	HP:0007401	Macular atrophy
OMIM:604393	KIZ	55857	HP:0000563	Keratoconus
OMIM:604393	KIZ	55857	HP:0007663	Reduced visual acuity
OMIM:604393	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CDHR1	92211	HP:0012043	Pendular nystagmus
OMIM:604393	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:604393	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:604393	CDHR1	92211	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CDHR1	92211	HP:0007401	Macular atrophy
OMIM:604393	CDHR1	92211	HP:0000563	Keratoconus
OMIM:604393	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:604393	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	ADAM9	8754	HP:0012043	Pendular nystagmus
OMIM:604393	ADAM9	8754	HP:0000543	Optic disc pallor
OMIM:604393	ADAM9	8754	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	ADAM9	8754	HP:0000662	Nyctalopia
OMIM:604393	ADAM9	8754	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	ADAM9	8754	HP:0000007	Autosomal recessive inheritance
OMIM:604393	ADAM9	8754	HP:0007401	Macular atrophy
OMIM:604393	ADAM9	8754	HP:0000563	Keratoconus
OMIM:604393	ADAM9	8754	HP:0007663	Reduced visual acuity
OMIM:604393	ZNF408	79797	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	ZNF408	79797	HP:0012043	Pendular nystagmus
OMIM:604393	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:604393	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:604393	ZNF408	79797	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:604393	ZNF408	79797	HP:0007401	Macular atrophy
OMIM:604393	ZNF408	79797	HP:0000563	Keratoconus
OMIM:604393	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:604393	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	TTLL5	23093	HP:0012043	Pendular nystagmus
OMIM:604393	TTLL5	23093	HP:0000543	Optic disc pallor
OMIM:604393	TTLL5	23093	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	TTLL5	23093	HP:0000662	Nyctalopia
OMIM:604393	TTLL5	23093	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	TTLL5	23093	HP:0000007	Autosomal recessive inheritance
OMIM:604393	TTLL5	23093	HP:0007401	Macular atrophy
OMIM:604393	TTLL5	23093	HP:0000563	Keratoconus
OMIM:604393	TTLL5	23093	HP:0007663	Reduced visual acuity
OMIM:604393	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	GUCY2D	3000	HP:0012043	Pendular nystagmus
OMIM:604393	GUCY2D	3000	HP:0000543	Optic disc pallor
OMIM:604393	GUCY2D	3000	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	GUCY2D	3000	HP:0000662	Nyctalopia
OMIM:604393	GUCY2D	3000	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:604393	GUCY2D	3000	HP:0007401	Macular atrophy
OMIM:604393	GUCY2D	3000	HP:0000563	Keratoconus
OMIM:604393	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:604393	CEP290	80184	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CEP290	80184	HP:0012043	Pendular nystagmus
OMIM:604393	CEP290	80184	HP:0000543	Optic disc pallor
OMIM:604393	CEP290	80184	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CEP290	80184	HP:0000662	Nyctalopia
OMIM:604393	CEP290	80184	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CEP290	80184	HP:0007401	Macular atrophy
OMIM:604393	CEP290	80184	HP:0000563	Keratoconus
OMIM:604393	CEP290	80184	HP:0007663	Reduced visual acuity
OMIM:604393	IQCB1	9657	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	IQCB1	9657	HP:0012043	Pendular nystagmus
OMIM:604393	IQCB1	9657	HP:0000543	Optic disc pallor
OMIM:604393	IQCB1	9657	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	IQCB1	9657	HP:0000662	Nyctalopia
OMIM:604393	IQCB1	9657	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:604393	IQCB1	9657	HP:0007401	Macular atrophy
OMIM:604393	IQCB1	9657	HP:0000563	Keratoconus
OMIM:604393	IQCB1	9657	HP:0007663	Reduced visual acuity
OMIM:604393	KCNJ13	3769	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	KCNJ13	3769	HP:0012043	Pendular nystagmus
OMIM:604393	KCNJ13	3769	HP:0000543	Optic disc pallor
OMIM:604393	KCNJ13	3769	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	KCNJ13	3769	HP:0000662	Nyctalopia
OMIM:604393	KCNJ13	3769	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:604393	KCNJ13	3769	HP:0007401	Macular atrophy
OMIM:604393	KCNJ13	3769	HP:0000563	Keratoconus
OMIM:604393	KCNJ13	3769	HP:0007663	Reduced visual acuity
OMIM:604393	GDF6	392255	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	GDF6	392255	HP:0012043	Pendular nystagmus
OMIM:604393	GDF6	392255	HP:0000543	Optic disc pallor
OMIM:604393	GDF6	392255	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	GDF6	392255	HP:0000662	Nyctalopia
OMIM:604393	GDF6	392255	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:604393	GDF6	392255	HP:0007401	Macular atrophy
OMIM:604393	GDF6	392255	HP:0000563	Keratoconus
OMIM:604393	GDF6	392255	HP:0007663	Reduced visual acuity
OMIM:604393	RBP3	5949	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RBP3	5949	HP:0012043	Pendular nystagmus
OMIM:604393	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:604393	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RBP3	5949	HP:0000662	Nyctalopia
OMIM:604393	RBP3	5949	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RBP3	5949	HP:0007401	Macular atrophy
OMIM:604393	RBP3	5949	HP:0000563	Keratoconus
OMIM:604393	RBP3	5949	HP:0007663	Reduced visual acuity
OMIM:604393	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	POC1B	282809	HP:0012043	Pendular nystagmus
OMIM:604393	POC1B	282809	HP:0000543	Optic disc pallor
OMIM:604393	POC1B	282809	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	POC1B	282809	HP:0000662	Nyctalopia
OMIM:604393	POC1B	282809	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	POC1B	282809	HP:0000007	Autosomal recessive inheritance
OMIM:604393	POC1B	282809	HP:0007401	Macular atrophy
OMIM:604393	POC1B	282809	HP:0000563	Keratoconus
OMIM:604393	POC1B	282809	HP:0007663	Reduced visual acuity
OMIM:604393	HGSNAT	138050	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	HGSNAT	138050	HP:0012043	Pendular nystagmus
OMIM:604393	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:604393	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:604393	HGSNAT	138050	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:604393	HGSNAT	138050	HP:0007401	Macular atrophy
OMIM:604393	HGSNAT	138050	HP:0000563	Keratoconus
OMIM:604393	HGSNAT	138050	HP:0007663	Reduced visual acuity
OMIM:604393	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	AIPL1	23746	HP:0012043	Pendular nystagmus
OMIM:604393	AIPL1	23746	HP:0000543	Optic disc pallor
OMIM:604393	AIPL1	23746	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:604393	AIPL1	23746	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:604393	AIPL1	23746	HP:0007401	Macular atrophy
OMIM:604393	AIPL1	23746	HP:0000563	Keratoconus
OMIM:604393	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:604393	FSCN2	25794	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	FSCN2	25794	HP:0012043	Pendular nystagmus
OMIM:604393	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:604393	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:604393	FSCN2	25794	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:604393	FSCN2	25794	HP:0007401	Macular atrophy
OMIM:604393	FSCN2	25794	HP:0000563	Keratoconus
OMIM:604393	FSCN2	25794	HP:0007663	Reduced visual acuity
OMIM:604393	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PITPNM3	83394	HP:0012043	Pendular nystagmus
OMIM:604393	PITPNM3	83394	HP:0000543	Optic disc pallor
OMIM:604393	PITPNM3	83394	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PITPNM3	83394	HP:0000662	Nyctalopia
OMIM:604393	PITPNM3	83394	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PITPNM3	83394	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PITPNM3	83394	HP:0007401	Macular atrophy
OMIM:604393	PITPNM3	83394	HP:0000563	Keratoconus
OMIM:604393	PITPNM3	83394	HP:0007663	Reduced visual acuity
OMIM:604393	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	OPN1LW	5956	HP:0012043	Pendular nystagmus
OMIM:604393	OPN1LW	5956	HP:0000543	Optic disc pallor
OMIM:604393	OPN1LW	5956	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	OPN1LW	5956	HP:0000662	Nyctalopia
OMIM:604393	OPN1LW	5956	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	OPN1LW	5956	HP:0000007	Autosomal recessive inheritance
OMIM:604393	OPN1LW	5956	HP:0007401	Macular atrophy
OMIM:604393	OPN1LW	5956	HP:0000563	Keratoconus
OMIM:604393	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:604393	PRCD	768206	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PRCD	768206	HP:0012043	Pendular nystagmus
OMIM:604393	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:604393	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PRCD	768206	HP:0000662	Nyctalopia
OMIM:604393	PRCD	768206	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PRCD	768206	HP:0007401	Macular atrophy
OMIM:604393	PRCD	768206	HP:0000563	Keratoconus
OMIM:604393	PRCD	768206	HP:0007663	Reduced visual acuity
OMIM:604393	BBS2	583	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	BBS2	583	HP:0012043	Pendular nystagmus
OMIM:604393	BBS2	583	HP:0000543	Optic disc pallor
OMIM:604393	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	BBS2	583	HP:0000662	Nyctalopia
OMIM:604393	BBS2	583	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:604393	BBS2	583	HP:0007401	Macular atrophy
OMIM:604393	BBS2	583	HP:0000563	Keratoconus
OMIM:604393	BBS2	583	HP:0007663	Reduced visual acuity
OMIM:604393	RDH12	145226	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RDH12	145226	HP:0012043	Pendular nystagmus
OMIM:604393	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:604393	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RDH12	145226	HP:0000662	Nyctalopia
OMIM:604393	RDH12	145226	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RDH12	145226	HP:0007401	Macular atrophy
OMIM:604393	RDH12	145226	HP:0000563	Keratoconus
OMIM:604393	RDH12	145226	HP:0007663	Reduced visual acuity
OMIM:604393	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PRPH2	5961	HP:0012043	Pendular nystagmus
OMIM:604393	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:604393	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:604393	PRPH2	5961	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PRPH2	5961	HP:0007401	Macular atrophy
OMIM:604393	PRPH2	5961	HP:0000563	Keratoconus
OMIM:604393	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:604393	DHDDS	79947	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	DHDDS	79947	HP:0012043	Pendular nystagmus
OMIM:604393	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:604393	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:604393	DHDDS	79947	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:604393	DHDDS	79947	HP:0007401	Macular atrophy
OMIM:604393	DHDDS	79947	HP:0000563	Keratoconus
OMIM:604393	DHDDS	79947	HP:0007663	Reduced visual acuity
OMIM:604393	ROM1	6094	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	ROM1	6094	HP:0012043	Pendular nystagmus
OMIM:604393	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:604393	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	ROM1	6094	HP:0000662	Nyctalopia
OMIM:604393	ROM1	6094	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:604393	ROM1	6094	HP:0007401	Macular atrophy
OMIM:604393	ROM1	6094	HP:0000563	Keratoconus
OMIM:604393	ROM1	6094	HP:0007663	Reduced visual acuity
OMIM:604393	C2ORF71	388939	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	C2ORF71	388939	HP:0012043	Pendular nystagmus
OMIM:604393	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:604393	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:604393	C2ORF71	388939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:604393	C2ORF71	388939	HP:0007401	Macular atrophy
OMIM:604393	C2ORF71	388939	HP:0000563	Keratoconus
OMIM:604393	C2ORF71	388939	HP:0007663	Reduced visual acuity
OMIM:604393	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	DRAM2	128338	HP:0012043	Pendular nystagmus
OMIM:604393	DRAM2	128338	HP:0000543	Optic disc pallor
OMIM:604393	DRAM2	128338	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	DRAM2	128338	HP:0000662	Nyctalopia
OMIM:604393	DRAM2	128338	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	DRAM2	128338	HP:0000007	Autosomal recessive inheritance
OMIM:604393	DRAM2	128338	HP:0007401	Macular atrophy
OMIM:604393	DRAM2	128338	HP:0000563	Keratoconus
OMIM:604393	DRAM2	128338	HP:0007663	Reduced visual acuity
OMIM:604393	RP9	6100	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RP9	6100	HP:0012043	Pendular nystagmus
OMIM:604393	RP9	6100	HP:0000543	Optic disc pallor
OMIM:604393	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RP9	6100	HP:0000662	Nyctalopia
OMIM:604393	RP9	6100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RP9	6100	HP:0007401	Macular atrophy
OMIM:604393	RP9	6100	HP:0000563	Keratoconus
OMIM:604393	RP9	6100	HP:0007663	Reduced visual acuity
OMIM:604393	PRPF6	24148	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PRPF6	24148	HP:0012043	Pendular nystagmus
OMIM:604393	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:604393	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:604393	PRPF6	24148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PRPF6	24148	HP:0007401	Macular atrophy
OMIM:604393	PRPF6	24148	HP:0000563	Keratoconus
OMIM:604393	PRPF6	24148	HP:0007663	Reduced visual acuity
OMIM:604393	RP1	6101	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RP1	6101	HP:0012043	Pendular nystagmus
OMIM:604393	RP1	6101	HP:0000543	Optic disc pallor
OMIM:604393	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RP1	6101	HP:0000662	Nyctalopia
OMIM:604393	RP1	6101	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RP1	6101	HP:0007401	Macular atrophy
OMIM:604393	RP1	6101	HP:0000563	Keratoconus
OMIM:604393	RP1	6101	HP:0007663	Reduced visual acuity
OMIM:604393	RP2	6102	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RP2	6102	HP:0012043	Pendular nystagmus
OMIM:604393	RP2	6102	HP:0000543	Optic disc pallor
OMIM:604393	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RP2	6102	HP:0000662	Nyctalopia
OMIM:604393	RP2	6102	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RP2	6102	HP:0007401	Macular atrophy
OMIM:604393	RP2	6102	HP:0000563	Keratoconus
OMIM:604393	RP2	6102	HP:0007663	Reduced visual acuity
OMIM:604393	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RPGR	6103	HP:0012043	Pendular nystagmus
OMIM:604393	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:604393	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RPGR	6103	HP:0000662	Nyctalopia
OMIM:604393	RPGR	6103	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RPGR	6103	HP:0007401	Macular atrophy
OMIM:604393	RPGR	6103	HP:0000563	Keratoconus
OMIM:604393	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:604393	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RIMS1	22999	HP:0012043	Pendular nystagmus
OMIM:604393	RIMS1	22999	HP:0000543	Optic disc pallor
OMIM:604393	RIMS1	22999	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RIMS1	22999	HP:0000662	Nyctalopia
OMIM:604393	RIMS1	22999	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RIMS1	22999	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RIMS1	22999	HP:0007401	Macular atrophy
OMIM:604393	RIMS1	22999	HP:0000563	Keratoconus
OMIM:604393	RIMS1	22999	HP:0007663	Reduced visual acuity
OMIM:604393	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	SEMA4A	64218	HP:0012043	Pendular nystagmus
OMIM:604393	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:604393	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:604393	SEMA4A	64218	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:604393	SEMA4A	64218	HP:0007401	Macular atrophy
OMIM:604393	SEMA4A	64218	HP:0000563	Keratoconus
OMIM:604393	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:604393	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	C8ORF37	157657	HP:0012043	Pendular nystagmus
OMIM:604393	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:604393	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:604393	C8ORF37	157657	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:604393	C8ORF37	157657	HP:0007401	Macular atrophy
OMIM:604393	C8ORF37	157657	HP:0000563	Keratoconus
OMIM:604393	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:604393	IDH3B	3420	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	IDH3B	3420	HP:0012043	Pendular nystagmus
OMIM:604393	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:604393	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:604393	IDH3B	3420	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:604393	IDH3B	3420	HP:0007401	Macular atrophy
OMIM:604393	IDH3B	3420	HP:0000563	Keratoconus
OMIM:604393	IDH3B	3420	HP:0007663	Reduced visual acuity
OMIM:604393	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	OPN1MW	2652	HP:0012043	Pendular nystagmus
OMIM:604393	OPN1MW	2652	HP:0000543	Optic disc pallor
OMIM:604393	OPN1MW	2652	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	OPN1MW	2652	HP:0000662	Nyctalopia
OMIM:604393	OPN1MW	2652	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	OPN1MW	2652	HP:0000007	Autosomal recessive inheritance
OMIM:604393	OPN1MW	2652	HP:0007401	Macular atrophy
OMIM:604393	OPN1MW	2652	HP:0000563	Keratoconus
OMIM:604393	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:604393	MERTK	10461	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	MERTK	10461	HP:0012043	Pendular nystagmus
OMIM:604393	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:604393	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	MERTK	10461	HP:0000662	Nyctalopia
OMIM:604393	MERTK	10461	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:604393	MERTK	10461	HP:0007401	Macular atrophy
OMIM:604393	MERTK	10461	HP:0000563	Keratoconus
OMIM:604393	MERTK	10461	HP:0007663	Reduced visual acuity
OMIM:604393	PRPF8	10594	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	PRPF8	10594	HP:0012043	Pendular nystagmus
OMIM:604393	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:604393	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:604393	PRPF8	10594	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:604393	PRPF8	10594	HP:0007401	Macular atrophy
OMIM:604393	PRPF8	10594	HP:0000563	Keratoconus
OMIM:604393	PRPF8	10594	HP:0007663	Reduced visual acuity
OMIM:604393	TOPORS	10210	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	TOPORS	10210	HP:0012043	Pendular nystagmus
OMIM:604393	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:604393	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:604393	TOPORS	10210	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:604393	TOPORS	10210	HP:0007401	Macular atrophy
OMIM:604393	TOPORS	10210	HP:0000563	Keratoconus
OMIM:604393	TOPORS	10210	HP:0007663	Reduced visual acuity
OMIM:604393	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RAX2	84839	HP:0012043	Pendular nystagmus
OMIM:604393	RAX2	84839	HP:0000543	Optic disc pallor
OMIM:604393	RAX2	84839	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RAX2	84839	HP:0000662	Nyctalopia
OMIM:604393	RAX2	84839	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RAX2	84839	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RAX2	84839	HP:0007401	Macular atrophy
OMIM:604393	RAX2	84839	HP:0000563	Keratoconus
OMIM:604393	RAX2	84839	HP:0007663	Reduced visual acuity
OMIM:604393	USH2A	7399	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	USH2A	7399	HP:0012043	Pendular nystagmus
OMIM:604393	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:604393	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	USH2A	7399	HP:0000662	Nyctalopia
OMIM:604393	USH2A	7399	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:604393	USH2A	7399	HP:0007401	Macular atrophy
OMIM:604393	USH2A	7399	HP:0000563	Keratoconus
OMIM:604393	USH2A	7399	HP:0007663	Reduced visual acuity
OMIM:604393	RPE65	6121	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RPE65	6121	HP:0012043	Pendular nystagmus
OMIM:604393	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:604393	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RPE65	6121	HP:0000662	Nyctalopia
OMIM:604393	RPE65	6121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RPE65	6121	HP:0007401	Macular atrophy
OMIM:604393	RPE65	6121	HP:0000563	Keratoconus
OMIM:604393	RPE65	6121	HP:0007663	Reduced visual acuity
OMIM:604393	CLRN1	7401	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CLRN1	7401	HP:0012043	Pendular nystagmus
OMIM:604393	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:604393	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:604393	CLRN1	7401	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CLRN1	7401	HP:0007401	Macular atrophy
OMIM:604393	CLRN1	7401	HP:0000563	Keratoconus
OMIM:604393	CLRN1	7401	HP:0007663	Reduced visual acuity
OMIM:604393	CNGB1	1258	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CNGB1	1258	HP:0012043	Pendular nystagmus
OMIM:604393	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:604393	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:604393	CNGB1	1258	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CNGB1	1258	HP:0007401	Macular atrophy
OMIM:604393	CNGB1	1258	HP:0000563	Keratoconus
OMIM:604393	CNGB1	1258	HP:0007663	Reduced visual acuity
OMIM:604393	RGR	5995	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RGR	5995	HP:0012043	Pendular nystagmus
OMIM:604393	RGR	5995	HP:0000543	Optic disc pallor
OMIM:604393	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RGR	5995	HP:0000662	Nyctalopia
OMIM:604393	RGR	5995	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RGR	5995	HP:0007401	Macular atrophy
OMIM:604393	RGR	5995	HP:0000563	Keratoconus
OMIM:604393	RGR	5995	HP:0007663	Reduced visual acuity
OMIM:604393	CNGA1	1259	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CNGA1	1259	HP:0012043	Pendular nystagmus
OMIM:604393	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:604393	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:604393	CNGA1	1259	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CNGA1	1259	HP:0007401	Macular atrophy
OMIM:604393	CNGA1	1259	HP:0000563	Keratoconus
OMIM:604393	CNGA1	1259	HP:0007663	Reduced visual acuity
OMIM:604393	TUB	7275	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	TUB	7275	HP:0012043	Pendular nystagmus
OMIM:604393	TUB	7275	HP:0000543	Optic disc pallor
OMIM:604393	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	TUB	7275	HP:0000662	Nyctalopia
OMIM:604393	TUB	7275	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:604393	TUB	7275	HP:0007401	Macular atrophy
OMIM:604393	TUB	7275	HP:0000563	Keratoconus
OMIM:604393	TUB	7275	HP:0007663	Reduced visual acuity
OMIM:604393	SNRNP200	23020	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	SNRNP200	23020	HP:0012043	Pendular nystagmus
OMIM:604393	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:604393	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:604393	SNRNP200	23020	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:604393	SNRNP200	23020	HP:0007401	Macular atrophy
OMIM:604393	SNRNP200	23020	HP:0000563	Keratoconus
OMIM:604393	SNRNP200	23020	HP:0007663	Reduced visual acuity
OMIM:604393	SLC7A14	57709	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	SLC7A14	57709	HP:0012043	Pendular nystagmus
OMIM:604393	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:604393	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:604393	SLC7A14	57709	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:604393	SLC7A14	57709	HP:0007401	Macular atrophy
OMIM:604393	SLC7A14	57709	HP:0000563	Keratoconus
OMIM:604393	SLC7A14	57709	HP:0007663	Reduced visual acuity
OMIM:604393	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CNGA3	1261	HP:0012043	Pendular nystagmus
OMIM:604393	CNGA3	1261	HP:0000543	Optic disc pallor
OMIM:604393	CNGA3	1261	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CNGA3	1261	HP:0000662	Nyctalopia
OMIM:604393	CNGA3	1261	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CNGA3	1261	HP:0007401	Macular atrophy
OMIM:604393	CNGA3	1261	HP:0000563	Keratoconus
OMIM:604393	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:604393	TULP1	7287	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	TULP1	7287	HP:0012043	Pendular nystagmus
OMIM:604393	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:604393	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	TULP1	7287	HP:0000662	Nyctalopia
OMIM:604393	TULP1	7287	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:604393	TULP1	7287	HP:0007401	Macular atrophy
OMIM:604393	TULP1	7287	HP:0000563	Keratoconus
OMIM:604393	TULP1	7287	HP:0007663	Reduced visual acuity
OMIM:604393	CRB1	23418	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CRB1	23418	HP:0012043	Pendular nystagmus
OMIM:604393	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:604393	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CRB1	23418	HP:0000662	Nyctalopia
OMIM:604393	CRB1	23418	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CRB1	23418	HP:0007401	Macular atrophy
OMIM:604393	CRB1	23418	HP:0000563	Keratoconus
OMIM:604393	CRB1	23418	HP:0007663	Reduced visual acuity
OMIM:604393	RHO	6010	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RHO	6010	HP:0012043	Pendular nystagmus
OMIM:604393	RHO	6010	HP:0000543	Optic disc pallor
OMIM:604393	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RHO	6010	HP:0000662	Nyctalopia
OMIM:604393	RHO	6010	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RHO	6010	HP:0007401	Macular atrophy
OMIM:604393	RHO	6010	HP:0000563	Keratoconus
OMIM:604393	RHO	6010	HP:0007663	Reduced visual acuity
OMIM:604393	CA4	762	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CA4	762	HP:0012043	Pendular nystagmus
OMIM:604393	CA4	762	HP:0000543	Optic disc pallor
OMIM:604393	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CA4	762	HP:0000662	Nyctalopia
OMIM:604393	CA4	762	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CA4	762	HP:0007401	Macular atrophy
OMIM:604393	CA4	762	HP:0000563	Keratoconus
OMIM:604393	CA4	762	HP:0007663	Reduced visual acuity
OMIM:604393	IMPG2	50939	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	IMPG2	50939	HP:0012043	Pendular nystagmus
OMIM:604393	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:604393	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:604393	IMPG2	50939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:604393	IMPG2	50939	HP:0007401	Macular atrophy
OMIM:604393	IMPG2	50939	HP:0000563	Keratoconus
OMIM:604393	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:604393	ZNF513	130557	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	ZNF513	130557	HP:0012043	Pendular nystagmus
OMIM:604393	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:604393	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:604393	ZNF513	130557	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:604393	ZNF513	130557	HP:0007401	Macular atrophy
OMIM:604393	ZNF513	130557	HP:0000563	Keratoconus
OMIM:604393	ZNF513	130557	HP:0007663	Reduced visual acuity
OMIM:604393	RD3	343035	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	RD3	343035	HP:0012043	Pendular nystagmus
OMIM:604393	RD3	343035	HP:0000543	Optic disc pallor
OMIM:604393	RD3	343035	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	RD3	343035	HP:0000662	Nyctalopia
OMIM:604393	RD3	343035	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:604393	RD3	343035	HP:0007401	Macular atrophy
OMIM:604393	RD3	343035	HP:0000563	Keratoconus
OMIM:604393	RD3	343035	HP:0007663	Reduced visual acuity
OMIM:604393	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:604393	CRX	1406	HP:0012043	Pendular nystagmus
OMIM:604393	CRX	1406	HP:0000543	Optic disc pallor
OMIM:604393	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:604393	CRX	1406	HP:0000662	Nyctalopia
OMIM:604393	CRX	1406	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:604393	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:604393	CRX	1406	HP:0007401	Macular atrophy
OMIM:604393	CRX	1406	HP:0000563	Keratoconus
OMIM:604393	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:169500	LMNB1	4001	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:169500	LMNB1	4001	HP:0000079	Abnormality of the urinary system
OMIM:169500	LMNB1	4001	HP:0002415	Leukodystrophy
OMIM:169500	LMNB1	4001	HP:0008872	Feeding difficulties in infancy
OMIM:169500	LMNB1	4001	HP:0003581	Adult onset
OMIM:169500	LMNB1	4001	HP:0000365	Hearing impairment
OMIM:169500	LMNB1	4001	HP:0002120	Cerebral cortical atrophy
OMIM:169500	LMNB1	4001	HP:0002171	Gliosis
OMIM:169500	LMNB1	4001	HP:0001288	Gait disturbance
OMIM:169500	LMNB1	4001	HP:0002311	Incoordination
OMIM:169500	LMNB1	4001	HP:0003676	Progressive
OMIM:169500	LMNB1	4001	HP:0002167	Neurological speech impairment
OMIM:169500	LMNB1	4001	HP:0002916	Abnormality of chromosome segregation
OMIM:169500	LMNB1	4001	HP:0003487	Babinski sign
OMIM:169500	LMNB1	4001	HP:0001251	Ataxia
OMIM:169500	LMNB1	4001	HP:0001276	Hypertonia
OMIM:169500	LMNB1	4001	HP:0000006	Autosomal dominant inheritance
OMIM:169500	LMNB1	4001	HP:0000966	Hypohidrosis
OMIM:169500	LMNB1	4001	HP:0000505	Visual impairment
OMIM:169500	LMNB1	4001	HP:0001337	Tremor
OMIM:169500	LMNB1	4001	HP:0000639	Nystagmus
OMIM:169500	LMNB1	4001	HP:0001347	Hyperreflexia
OMIM:169500	LMNB1	4001	HP:0007024	Pseudobulbar paralysis
OMIM:169500	LMNB1	4001	HP:0100543	Cognitive impairment
OMIM:169500	LMNB1	4001	HP:0002344	Progressive neurologic deterioration
OMIM:169500	LMNB1	4001	HP:0002019	Constipation
OMIM:169500	LMNB1	4001	HP:0001257	Spasticity
OMIM:136000	SMARCAD1	56916	HP:0000006	Autosomal dominant inheritance
OMIM:136000	SMARCAD1	56916	HP:0001217	Clubbing
OMIM:300640	IKBKG	8517	HP:0000958	Dry skin
OMIM:300640	IKBKG	8517	HP:0000668	Hypodontia
OMIM:300640	IKBKG	8517	HP:0002007	Frontal bossing
OMIM:300640	IKBKG	8517	HP:0005366	Recurrent streptococcus pneumoniae infections
OMIM:304900	AVP	551	HP:0001417	X-linked inheritance
OMIM:304900	AVP	551	HP:0001948	Alkalosis
OMIM:304900	AVP	551	HP:0000126	Hydronephrosis
OMIM:226400	TMC8	147138	HP:0200043	Verrucae
OMIM:226400	TMC8	147138	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:226400	TMC6	11322	HP:0200043	Verrucae
OMIM:226400	TMC6	11322	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:220290	MSRB3	253827	HP:0001751	Vestibular dysfunction
OMIM:220290	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:220290	MSRB3	253827	HP:0010984	Digenic inheritance
OMIM:220290	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:220290	BSND	7809	HP:0001751	Vestibular dysfunction
OMIM:220290	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:220290	BSND	7809	HP:0010984	Digenic inheritance
OMIM:220290	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:220290	ESPN	83715	HP:0001751	Vestibular dysfunction
OMIM:220290	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:220290	ESPN	83715	HP:0010984	Digenic inheritance
OMIM:220290	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:220290	DFNB31	25861	HP:0001751	Vestibular dysfunction
OMIM:220290	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:220290	DFNB31	25861	HP:0010984	Digenic inheritance
OMIM:220290	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:220290	OTOA	146183	HP:0001751	Vestibular dysfunction
OMIM:220290	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:220290	OTOA	146183	HP:0010984	Digenic inheritance
OMIM:220290	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:220290	GJA1	2697	HP:0001751	Vestibular dysfunction
OMIM:220290	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:220290	GJA1	2697	HP:0010984	Digenic inheritance
OMIM:220290	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:220290	MET	4233	HP:0001751	Vestibular dysfunction
OMIM:220290	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:220290	MET	4233	HP:0010984	Digenic inheritance
OMIM:220290	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:220290	CLDN14	23562	HP:0001751	Vestibular dysfunction
OMIM:220290	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:220290	CLDN14	23562	HP:0010984	Digenic inheritance
OMIM:220290	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:220290	HGF	3082	HP:0001751	Vestibular dysfunction
OMIM:220290	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:220290	HGF	3082	HP:0010984	Digenic inheritance
OMIM:220290	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:220290	PNPT1	87178	HP:0001751	Vestibular dysfunction
OMIM:220290	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:220290	PNPT1	87178	HP:0010984	Digenic inheritance
OMIM:220290	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:220290	EPS8	2059	HP:0001751	Vestibular dysfunction
OMIM:220290	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:220290	EPS8	2059	HP:0010984	Digenic inheritance
OMIM:220290	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:220290	MYO3A	53904	HP:0001751	Vestibular dysfunction
OMIM:220290	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:220290	MYO3A	53904	HP:0010984	Digenic inheritance
OMIM:220290	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:220290	DCDC2	51473	HP:0001751	Vestibular dysfunction
OMIM:220290	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:220290	DCDC2	51473	HP:0010984	Digenic inheritance
OMIM:220290	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:220290	GJB2	2706	HP:0001751	Vestibular dysfunction
OMIM:220290	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:220290	GJB2	2706	HP:0010984	Digenic inheritance
OMIM:220290	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:220290	GJB3	2707	HP:0001751	Vestibular dysfunction
OMIM:220290	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:220290	GJB3	2707	HP:0010984	Digenic inheritance
OMIM:220290	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:220290	CABP2	51475	HP:0001751	Vestibular dysfunction
OMIM:220290	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:220290	CABP2	51475	HP:0010984	Digenic inheritance
OMIM:220290	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:220290	GRXCR2	643226	HP:0001751	Vestibular dysfunction
OMIM:220290	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:220290	GRXCR2	643226	HP:0010984	Digenic inheritance
OMIM:220290	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:220290	SERPINB6	5269	HP:0001751	Vestibular dysfunction
OMIM:220290	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:220290	SERPINB6	5269	HP:0010984	Digenic inheritance
OMIM:220290	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:220290	COL11A2	1302	HP:0001751	Vestibular dysfunction
OMIM:220290	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:220290	COL11A2	1302	HP:0010984	Digenic inheritance
OMIM:220290	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:220290	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:220290	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:220290	CIB2	10518	HP:0010984	Digenic inheritance
OMIM:220290	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:220290	FAM65B	9750	HP:0001751	Vestibular dysfunction
OMIM:220290	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:220290	FAM65B	9750	HP:0010984	Digenic inheritance
OMIM:220290	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:220290	KARS	3735	HP:0001751	Vestibular dysfunction
OMIM:220290	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:220290	KARS	3735	HP:0010984	Digenic inheritance
OMIM:220290	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:220290	LOXHD1	125336	HP:0001751	Vestibular dysfunction
OMIM:220290	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:220290	LOXHD1	125336	HP:0010984	Digenic inheritance
OMIM:220290	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:220290	TMC1	117531	HP:0001751	Vestibular dysfunction
OMIM:220290	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:220290	TMC1	117531	HP:0010984	Digenic inheritance
OMIM:220290	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:220290	CLIC5	53405	HP:0001751	Vestibular dysfunction
OMIM:220290	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:220290	CLIC5	53405	HP:0010984	Digenic inheritance
OMIM:220290	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:220290	OTOF	9381	HP:0001751	Vestibular dysfunction
OMIM:220290	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:220290	OTOF	9381	HP:0010984	Digenic inheritance
OMIM:220290	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:220290	MYO6	4646	HP:0001751	Vestibular dysfunction
OMIM:220290	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:220290	MYO6	4646	HP:0010984	Digenic inheritance
OMIM:220290	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:220290	TMIE	259236	HP:0001751	Vestibular dysfunction
OMIM:220290	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:220290	TMIE	259236	HP:0010984	Digenic inheritance
OMIM:220290	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:220290	MYO7A	4647	HP:0001751	Vestibular dysfunction
OMIM:220290	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:220290	MYO7A	4647	HP:0010984	Digenic inheritance
OMIM:220290	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:220290	LRTOMT	220074	HP:0001751	Vestibular dysfunction
OMIM:220290	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:220290	LRTOMT	220074	HP:0010984	Digenic inheritance
OMIM:220290	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:220290	OTOGL	283310	HP:0001751	Vestibular dysfunction
OMIM:220290	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:220290	OTOGL	283310	HP:0010984	Digenic inheritance
OMIM:220290	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:220290	TPRN	286262	HP:0001751	Vestibular dysfunction
OMIM:220290	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:220290	TPRN	286262	HP:0010984	Digenic inheritance
OMIM:220290	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:220290	GJB6	10804	HP:0001751	Vestibular dysfunction
OMIM:220290	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:220290	GJB6	10804	HP:0010984	Digenic inheritance
OMIM:220290	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:220290	SLC26A4	5172	HP:0001751	Vestibular dysfunction
OMIM:220290	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:220290	SLC26A4	5172	HP:0010984	Digenic inheritance
OMIM:220290	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:220290	DFNB59	494513	HP:0001751	Vestibular dysfunction
OMIM:220290	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:220290	DFNB59	494513	HP:0010984	Digenic inheritance
OMIM:220290	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:220290	ESRRB	2103	HP:0001751	Vestibular dysfunction
OMIM:220290	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:220290	ESRRB	2103	HP:0010984	Digenic inheritance
OMIM:220290	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:220290	TMPRSS3	64699	HP:0001751	Vestibular dysfunction
OMIM:220290	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:220290	TMPRSS3	64699	HP:0010984	Digenic inheritance
OMIM:220290	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:220290	PTPRQ	374462	HP:0001751	Vestibular dysfunction
OMIM:220290	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:220290	PTPRQ	374462	HP:0010984	Digenic inheritance
OMIM:220290	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:220290	SLC26A5	375611	HP:0001751	Vestibular dysfunction
OMIM:220290	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:220290	SLC26A5	375611	HP:0010984	Digenic inheritance
OMIM:220290	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:220290	PCDH15	65217	HP:0001751	Vestibular dysfunction
OMIM:220290	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:220290	PCDH15	65217	HP:0010984	Digenic inheritance
OMIM:220290	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:220290	TSPEAR	54084	HP:0001751	Vestibular dysfunction
OMIM:220290	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:220290	TSPEAR	54084	HP:0010984	Digenic inheritance
OMIM:220290	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:220290	LHFPL5	222662	HP:0001751	Vestibular dysfunction
OMIM:220290	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:220290	LHFPL5	222662	HP:0010984	Digenic inheritance
OMIM:220290	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:220290	TRIOBP	11078	HP:0001751	Vestibular dysfunction
OMIM:220290	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:220290	TRIOBP	11078	HP:0010984	Digenic inheritance
OMIM:220290	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:220290	CDH23	64072	HP:0001751	Vestibular dysfunction
OMIM:220290	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:220290	CDH23	64072	HP:0010984	Digenic inheritance
OMIM:220290	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:220290	RDX	5962	HP:0001751	Vestibular dysfunction
OMIM:220290	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:220290	RDX	5962	HP:0010984	Digenic inheritance
OMIM:220290	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:220290	GPSM2	29899	HP:0001751	Vestibular dysfunction
OMIM:220290	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:220290	GPSM2	29899	HP:0010984	Digenic inheritance
OMIM:220290	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:220290	ELMOD3	84173	HP:0001751	Vestibular dysfunction
OMIM:220290	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:220290	ELMOD3	84173	HP:0010984	Digenic inheritance
OMIM:220290	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:220290	ILDR1	286676	HP:0001751	Vestibular dysfunction
OMIM:220290	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:220290	ILDR1	286676	HP:0010984	Digenic inheritance
OMIM:220290	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:220290	GRXCR1	389207	HP:0001751	Vestibular dysfunction
OMIM:220290	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:220290	GRXCR1	389207	HP:0010984	Digenic inheritance
OMIM:220290	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:220290	MARVELD2	153562	HP:0001751	Vestibular dysfunction
OMIM:220290	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:220290	MARVELD2	153562	HP:0010984	Digenic inheritance
OMIM:220290	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:220290	STRC	161497	HP:0001751	Vestibular dysfunction
OMIM:220290	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:220290	STRC	161497	HP:0010984	Digenic inheritance
OMIM:220290	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:220290	SLITRK6	84189	HP:0001751	Vestibular dysfunction
OMIM:220290	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:220290	SLITRK6	84189	HP:0010984	Digenic inheritance
OMIM:220290	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:220290	TECTA	7007	HP:0001751	Vestibular dysfunction
OMIM:220290	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:220290	TECTA	7007	HP:0010984	Digenic inheritance
OMIM:220290	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:220290	MYO15A	51168	HP:0001751	Vestibular dysfunction
OMIM:220290	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:220290	MYO15A	51168	HP:0010984	Digenic inheritance
OMIM:220290	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:220290	USH1C	10083	HP:0001751	Vestibular dysfunction
OMIM:220290	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:220290	USH1C	10083	HP:0010984	Digenic inheritance
OMIM:220290	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:220290	ADCY1	107	HP:0001751	Vestibular dysfunction
OMIM:220290	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:220290	ADCY1	107	HP:0010984	Digenic inheritance
OMIM:220290	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:220290	SYNE4	163183	HP:0001751	Vestibular dysfunction
OMIM:220290	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:220290	SYNE4	163183	HP:0010984	Digenic inheritance
OMIM:220290	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:220290	GIPC3	126326	HP:0001751	Vestibular dysfunction
OMIM:220290	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:220290	GIPC3	126326	HP:0010984	Digenic inheritance
OMIM:220290	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:220290	TBC1D24	57465	HP:0001751	Vestibular dysfunction
OMIM:220290	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:220290	TBC1D24	57465	HP:0010984	Digenic inheritance
OMIM:220290	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:220290	OTOG	340990	HP:0001751	Vestibular dysfunction
OMIM:220290	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:220290	OTOG	340990	HP:0010984	Digenic inheritance
OMIM:220290	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:612095	RLBP1	6017	HP:0000608	Macular degeneration
OMIM:612095	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:612095	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:612095	RLBP1	6017	HP:0000550	Undetectable electroretinogram
OMIM:612095	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:612095	SPATA7	55812	HP:0000608	Macular degeneration
OMIM:612095	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:612095	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:612095	SPATA7	55812	HP:0000550	Undetectable electroretinogram
OMIM:612095	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:612095	ARL6	84100	HP:0000608	Macular degeneration
OMIM:612095	ARL6	84100	HP:0000662	Nyctalopia
OMIM:612095	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:612095	ARL6	84100	HP:0000550	Undetectable electroretinogram
OMIM:612095	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:612095	CERKL	375298	HP:0000608	Macular degeneration
OMIM:612095	CERKL	375298	HP:0000662	Nyctalopia
OMIM:612095	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:612095	CERKL	375298	HP:0000550	Undetectable electroretinogram
OMIM:612095	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:612095	PRPF31	26121	HP:0000608	Macular degeneration
OMIM:612095	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:612095	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:612095	PRPF31	26121	HP:0000550	Undetectable electroretinogram
OMIM:612095	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:612095	TTC8	123016	HP:0000608	Macular degeneration
OMIM:612095	TTC8	123016	HP:0000662	Nyctalopia
OMIM:612095	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:612095	TTC8	123016	HP:0000550	Undetectable electroretinogram
OMIM:612095	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:612095	PROM1	8842	HP:0000608	Macular degeneration
OMIM:612095	PROM1	8842	HP:0000662	Nyctalopia
OMIM:612095	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:612095	PROM1	8842	HP:0000550	Undetectable electroretinogram
OMIM:612095	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:612095	LRAT	9227	HP:0000608	Macular degeneration
OMIM:612095	LRAT	9227	HP:0000662	Nyctalopia
OMIM:612095	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:612095	LRAT	9227	HP:0000550	Undetectable electroretinogram
OMIM:612095	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:612095	IFT140	9742	HP:0000608	Macular degeneration
OMIM:612095	IFT140	9742	HP:0000662	Nyctalopia
OMIM:612095	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:612095	IFT140	9742	HP:0000550	Undetectable electroretinogram
OMIM:612095	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:612095	BEST1	7439	HP:0000608	Macular degeneration
OMIM:612095	BEST1	7439	HP:0000662	Nyctalopia
OMIM:612095	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:612095	BEST1	7439	HP:0000550	Undetectable electroretinogram
OMIM:612095	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:612095	NEK2	4751	HP:0000608	Macular degeneration
OMIM:612095	NEK2	4751	HP:0000662	Nyctalopia
OMIM:612095	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:612095	NEK2	4751	HP:0000550	Undetectable electroretinogram
OMIM:612095	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:612095	ARL2BP	23568	HP:0000608	Macular degeneration
OMIM:612095	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:612095	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:612095	ARL2BP	23568	HP:0000550	Undetectable electroretinogram
OMIM:612095	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:612095	NR2E3	10002	HP:0000608	Macular degeneration
OMIM:612095	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:612095	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:612095	NR2E3	10002	HP:0000550	Undetectable electroretinogram
OMIM:612095	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:612095	EYS	346007	HP:0000608	Macular degeneration
OMIM:612095	EYS	346007	HP:0000662	Nyctalopia
OMIM:612095	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:612095	EYS	346007	HP:0000550	Undetectable electroretinogram
OMIM:612095	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:612095	MAK	4117	HP:0000608	Macular degeneration
OMIM:612095	MAK	4117	HP:0000662	Nyctalopia
OMIM:612095	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:612095	MAK	4117	HP:0000550	Undetectable electroretinogram
OMIM:612095	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:612095	SAG	6295	HP:0000608	Macular degeneration
OMIM:612095	SAG	6295	HP:0000662	Nyctalopia
OMIM:612095	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:612095	SAG	6295	HP:0000550	Undetectable electroretinogram
OMIM:612095	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:612095	ABCA4	24	HP:0000608	Macular degeneration
OMIM:612095	ABCA4	24	HP:0000662	Nyctalopia
OMIM:612095	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:612095	ABCA4	24	HP:0000550	Undetectable electroretinogram
OMIM:612095	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:612095	PDE6A	5145	HP:0000608	Macular degeneration
OMIM:612095	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:612095	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:612095	PDE6A	5145	HP:0000550	Undetectable electroretinogram
OMIM:612095	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:612095	PDE6G	5148	HP:0000608	Macular degeneration
OMIM:612095	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:612095	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:612095	PDE6G	5148	HP:0000550	Undetectable electroretinogram
OMIM:612095	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:612095	IMPDH1	3614	HP:0000608	Macular degeneration
OMIM:612095	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:612095	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:612095	IMPDH1	3614	HP:0000550	Undetectable electroretinogram
OMIM:612095	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:612095	OFD1	8481	HP:0000608	Macular degeneration
OMIM:612095	OFD1	8481	HP:0000662	Nyctalopia
OMIM:612095	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:612095	OFD1	8481	HP:0000550	Undetectable electroretinogram
OMIM:612095	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:612095	GUCA1B	2979	HP:0000608	Macular degeneration
OMIM:612095	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:612095	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:612095	GUCA1B	2979	HP:0000550	Undetectable electroretinogram
OMIM:612095	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:612095	NRL	4901	HP:0000608	Macular degeneration
OMIM:612095	NRL	4901	HP:0000662	Nyctalopia
OMIM:612095	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:612095	NRL	4901	HP:0000550	Undetectable electroretinogram
OMIM:612095	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:612095	PDE6B	5158	HP:0000608	Macular degeneration
OMIM:612095	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:612095	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:612095	PDE6B	5158	HP:0000550	Undetectable electroretinogram
OMIM:612095	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:612095	KLHL7	55975	HP:0000608	Macular degeneration
OMIM:612095	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:612095	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:612095	KLHL7	55975	HP:0000550	Undetectable electroretinogram
OMIM:612095	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:612095	PRPF4	9128	HP:0000608	Macular degeneration
OMIM:612095	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:612095	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:612095	PRPF4	9128	HP:0000550	Undetectable electroretinogram
OMIM:612095	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:612095	PRPF3	9129	HP:0000608	Macular degeneration
OMIM:612095	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:612095	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:612095	PRPF3	9129	HP:0000550	Undetectable electroretinogram
OMIM:612095	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:612095	FAM161A	84140	HP:0000608	Macular degeneration
OMIM:612095	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:612095	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:612095	FAM161A	84140	HP:0000550	Undetectable electroretinogram
OMIM:612095	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:612095	IFT172	26160	HP:0000608	Macular degeneration
OMIM:612095	IFT172	26160	HP:0000662	Nyctalopia
OMIM:612095	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:612095	IFT172	26160	HP:0000550	Undetectable electroretinogram
OMIM:612095	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:612095	KIZ	55857	HP:0000608	Macular degeneration
OMIM:612095	KIZ	55857	HP:0000662	Nyctalopia
OMIM:612095	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:612095	KIZ	55857	HP:0000550	Undetectable electroretinogram
OMIM:612095	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:612095	CDHR1	92211	HP:0000608	Macular degeneration
OMIM:612095	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:612095	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:612095	CDHR1	92211	HP:0000550	Undetectable electroretinogram
OMIM:612095	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:612095	ZNF408	79797	HP:0000608	Macular degeneration
OMIM:612095	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:612095	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:612095	ZNF408	79797	HP:0000550	Undetectable electroretinogram
OMIM:612095	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:612095	RBP3	5949	HP:0000608	Macular degeneration
OMIM:612095	RBP3	5949	HP:0000662	Nyctalopia
OMIM:612095	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:612095	RBP3	5949	HP:0000550	Undetectable electroretinogram
OMIM:612095	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:612095	HGSNAT	138050	HP:0000608	Macular degeneration
OMIM:612095	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:612095	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:612095	HGSNAT	138050	HP:0000550	Undetectable electroretinogram
OMIM:612095	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:612095	FSCN2	25794	HP:0000608	Macular degeneration
OMIM:612095	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:612095	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:612095	FSCN2	25794	HP:0000550	Undetectable electroretinogram
OMIM:612095	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:612095	PRCD	768206	HP:0000608	Macular degeneration
OMIM:612095	PRCD	768206	HP:0000662	Nyctalopia
OMIM:612095	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:612095	PRCD	768206	HP:0000550	Undetectable electroretinogram
OMIM:612095	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:612095	BBS2	583	HP:0000608	Macular degeneration
OMIM:612095	BBS2	583	HP:0000662	Nyctalopia
OMIM:612095	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:612095	BBS2	583	HP:0000550	Undetectable electroretinogram
OMIM:612095	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:612095	RDH12	145226	HP:0000608	Macular degeneration
OMIM:612095	RDH12	145226	HP:0000662	Nyctalopia
OMIM:612095	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:612095	RDH12	145226	HP:0000550	Undetectable electroretinogram
OMIM:612095	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:612095	PRPH2	5961	HP:0000608	Macular degeneration
OMIM:612095	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:612095	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:612095	PRPH2	5961	HP:0000550	Undetectable electroretinogram
OMIM:612095	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:612095	DHDDS	79947	HP:0000608	Macular degeneration
OMIM:612095	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:612095	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:612095	DHDDS	79947	HP:0000550	Undetectable electroretinogram
OMIM:612095	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:612095	ROM1	6094	HP:0000608	Macular degeneration
OMIM:612095	ROM1	6094	HP:0000662	Nyctalopia
OMIM:612095	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:612095	ROM1	6094	HP:0000550	Undetectable electroretinogram
OMIM:612095	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:612095	C2ORF71	388939	HP:0000608	Macular degeneration
OMIM:612095	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:612095	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:612095	C2ORF71	388939	HP:0000550	Undetectable electroretinogram
OMIM:612095	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:612095	RP9	6100	HP:0000608	Macular degeneration
OMIM:612095	RP9	6100	HP:0000662	Nyctalopia
OMIM:612095	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:612095	RP9	6100	HP:0000550	Undetectable electroretinogram
OMIM:612095	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:612095	PRPF6	24148	HP:0000608	Macular degeneration
OMIM:612095	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:612095	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:612095	PRPF6	24148	HP:0000550	Undetectable electroretinogram
OMIM:612095	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:612095	RP1	6101	HP:0000608	Macular degeneration
OMIM:612095	RP1	6101	HP:0000662	Nyctalopia
OMIM:612095	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:612095	RP1	6101	HP:0000550	Undetectable electroretinogram
OMIM:612095	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:612095	RP2	6102	HP:0000608	Macular degeneration
OMIM:612095	RP2	6102	HP:0000662	Nyctalopia
OMIM:612095	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:612095	RP2	6102	HP:0000550	Undetectable electroretinogram
OMIM:612095	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:612095	RPGR	6103	HP:0000608	Macular degeneration
OMIM:612095	RPGR	6103	HP:0000662	Nyctalopia
OMIM:612095	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:612095	RPGR	6103	HP:0000550	Undetectable electroretinogram
OMIM:612095	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:612095	SEMA4A	64218	HP:0000608	Macular degeneration
OMIM:612095	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:612095	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:612095	SEMA4A	64218	HP:0000550	Undetectable electroretinogram
OMIM:612095	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:612095	C8ORF37	157657	HP:0000608	Macular degeneration
OMIM:612095	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:612095	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:612095	C8ORF37	157657	HP:0000550	Undetectable electroretinogram
OMIM:612095	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:612095	IDH3B	3420	HP:0000608	Macular degeneration
OMIM:612095	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:612095	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:612095	IDH3B	3420	HP:0000550	Undetectable electroretinogram
OMIM:612095	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:612095	MERTK	10461	HP:0000608	Macular degeneration
OMIM:612095	MERTK	10461	HP:0000662	Nyctalopia
OMIM:612095	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:612095	MERTK	10461	HP:0000550	Undetectable electroretinogram
OMIM:612095	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:612095	PRPF8	10594	HP:0000608	Macular degeneration
OMIM:612095	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:612095	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:612095	PRPF8	10594	HP:0000550	Undetectable electroretinogram
OMIM:612095	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:612095	TOPORS	10210	HP:0000608	Macular degeneration
OMIM:612095	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:612095	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:612095	TOPORS	10210	HP:0000550	Undetectable electroretinogram
OMIM:612095	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:612095	USH2A	7399	HP:0000608	Macular degeneration
OMIM:612095	USH2A	7399	HP:0000662	Nyctalopia
OMIM:612095	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:612095	USH2A	7399	HP:0000550	Undetectable electroretinogram
OMIM:612095	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:612095	RPE65	6121	HP:0000608	Macular degeneration
OMIM:612095	RPE65	6121	HP:0000662	Nyctalopia
OMIM:612095	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:612095	RPE65	6121	HP:0000550	Undetectable electroretinogram
OMIM:612095	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:612095	CLRN1	7401	HP:0000608	Macular degeneration
OMIM:612095	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:612095	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:612095	CLRN1	7401	HP:0000550	Undetectable electroretinogram
OMIM:612095	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:612095	CNGB1	1258	HP:0000608	Macular degeneration
OMIM:612095	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:612095	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:612095	CNGB1	1258	HP:0000550	Undetectable electroretinogram
OMIM:612095	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:612095	RGR	5995	HP:0000608	Macular degeneration
OMIM:612095	RGR	5995	HP:0000662	Nyctalopia
OMIM:612095	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:612095	RGR	5995	HP:0000550	Undetectable electroretinogram
OMIM:612095	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:612095	CNGA1	1259	HP:0000608	Macular degeneration
OMIM:612095	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:612095	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:612095	CNGA1	1259	HP:0000550	Undetectable electroretinogram
OMIM:612095	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:612095	TUB	7275	HP:0000608	Macular degeneration
OMIM:612095	TUB	7275	HP:0000662	Nyctalopia
OMIM:612095	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:612095	TUB	7275	HP:0000550	Undetectable electroretinogram
OMIM:612095	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:612095	SNRNP200	23020	HP:0000608	Macular degeneration
OMIM:612095	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:612095	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:612095	SNRNP200	23020	HP:0000550	Undetectable electroretinogram
OMIM:612095	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:612095	SLC7A14	57709	HP:0000608	Macular degeneration
OMIM:612095	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:612095	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:612095	SLC7A14	57709	HP:0000550	Undetectable electroretinogram
OMIM:612095	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:612095	TULP1	7287	HP:0000608	Macular degeneration
OMIM:612095	TULP1	7287	HP:0000662	Nyctalopia
OMIM:612095	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:612095	TULP1	7287	HP:0000550	Undetectable electroretinogram
OMIM:612095	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:612095	RHO	6010	HP:0000608	Macular degeneration
OMIM:612095	RHO	6010	HP:0000662	Nyctalopia
OMIM:612095	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:612095	RHO	6010	HP:0000550	Undetectable electroretinogram
OMIM:612095	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:612095	CA4	762	HP:0000608	Macular degeneration
OMIM:612095	CA4	762	HP:0000662	Nyctalopia
OMIM:612095	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:612095	CA4	762	HP:0000550	Undetectable electroretinogram
OMIM:612095	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:612095	CRB1	23418	HP:0000608	Macular degeneration
OMIM:612095	CRB1	23418	HP:0000662	Nyctalopia
OMIM:612095	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:612095	CRB1	23418	HP:0000550	Undetectable electroretinogram
OMIM:612095	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:612095	IMPG2	50939	HP:0000608	Macular degeneration
OMIM:612095	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:612095	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:612095	IMPG2	50939	HP:0000550	Undetectable electroretinogram
OMIM:612095	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:612095	ZNF513	130557	HP:0000608	Macular degeneration
OMIM:612095	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:612095	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:612095	ZNF513	130557	HP:0000550	Undetectable electroretinogram
OMIM:612095	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:612095	CRX	1406	HP:0000608	Macular degeneration
OMIM:612095	CRX	1406	HP:0000662	Nyctalopia
OMIM:612095	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:612095	CRX	1406	HP:0000550	Undetectable electroretinogram
OMIM:612095	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:614860	CACNA1B	774	HP:0001288	Gait disturbance
OMIM:614860	CACNA1B	774	HP:0011675	Arrhythmia
OMIM:614860	CACNA1B	774	HP:0002451	Limb dystonia
OMIM:614860	CACNA1B	774	HP:0000006	Autosomal dominant inheritance
OMIM:614860	CACNA1B	774	HP:0001336	Myoclonus
OMIM:614860	CACNA1B	774	HP:0002356	Writer's cramp
OMIM:614860	CACNA1B	774	HP:0002120	Cerebral cortical atrophy
OMIM:614860	CACNA1B	774	HP:0001272	Cerebellar atrophy
OMIM:614860	CACNA1B	774	HP:0003581	Adult onset
OMIM:614860	CACNA1B	774	HP:0000473	Torticollis
OMIM:614860	CACNA1B	774	HP:0001618	Dysphonia
OMIM:613957	ZMYND15	84225	HP:0000007	Autosomal recessive inheritance
OMIM:613957	ZMYND15	84225	HP:0000027	Azoospermia
OMIM:613957	NR5A1	2516	HP:0000007	Autosomal recessive inheritance
OMIM:613957	NR5A1	2516	HP:0000027	Azoospermia
OMIM:613957	CFTR	1080	HP:0000007	Autosomal recessive inheritance
OMIM:613957	CFTR	1080	HP:0000027	Azoospermia
OMIM:613957	NANOS1	340719	HP:0000007	Autosomal recessive inheritance
OMIM:613957	NANOS1	340719	HP:0000027	Azoospermia
OMIM:613957	SOHLH1	402381	HP:0000007	Autosomal recessive inheritance
OMIM:613957	SOHLH1	402381	HP:0000027	Azoospermia
OMIM:613957	TAF4B	6875	HP:0000007	Autosomal recessive inheritance
OMIM:613957	TAF4B	6875	HP:0000027	Azoospermia
OMIM:613957	TEX11	56159	HP:0000007	Autosomal recessive inheritance
OMIM:613957	TEX11	56159	HP:0000027	Azoospermia
OMIM:607014	IDUA	3425	HP:0000007	Autosomal recessive inheritance
OMIM:607014	IDUA	3425	HP:0000238	Hydrocephalus
OMIM:607014	IDUA	3425	HP:0002344	Progressive neurologic deterioration
OMIM:607014	IDUA	3425	HP:0011400	Abnormal CNS myelination
OMIM:607014	IDUA	3425	HP:0000246	Sinusitis
OMIM:607014	IDUA	3425	HP:0001433	Hepatosplenomegaly
OMIM:607014	IDUA	3425	HP:0002360	Sleep disturbance
OMIM:607014	IDUA	3425	HP:0000470	Short neck
OMIM:607014	IDUA	3425	HP:0000772	Abnormality of the ribs
OMIM:607014	IDUA	3425	HP:0001653	Mitral regurgitation
OMIM:607014	IDUA	3425	HP:0000365	Hearing impairment
OMIM:607014	IDUA	3425	HP:0000179	Thick lower lip vermilion
OMIM:607014	IDUA	3425	HP:0002240	Hepatomegaly
OMIM:607014	IDUA	3425	HP:0003416	Spinal canal stenosis
OMIM:607014	IDUA	3425	HP:0001387	Joint stiffness
OMIM:607014	IDUA	3425	HP:0002673	Coxa valga
OMIM:607014	IDUA	3425	HP:0000293	Full cheeks
OMIM:607014	IDUA	3425	HP:0007256	Abnormal pyramidal signs
OMIM:607014	IDUA	3425	HP:0003311	Hypoplasia of the odontoid process
OMIM:607014	IDUA	3425	HP:0008155	Mucopolysacchariduria
OMIM:607014	IDUA	3425	HP:0000501	Glaucoma
OMIM:607014	IDUA	3425	HP:0001677	Coronary artery disease
OMIM:607014	IDUA	3425	HP:0004374	Hemiplegia/hemiparesis
OMIM:607014	IDUA	3425	HP:0005280	Depressed nasal bridge
OMIM:607014	IDUA	3425	HP:0001371	Flexion contracture
OMIM:607014	IDUA	3425	HP:0001744	Splenomegaly
OMIM:607014	IDUA	3425	HP:0001659	Aortic regurgitation
OMIM:607014	IDUA	3425	HP:0000943	Dysostosis multiplex
OMIM:607014	IDUA	3425	HP:0000455	Broad nasal tip
OMIM:607014	IDUA	3425	HP:0001263	Global developmental delay
OMIM:607014	IDUA	3425	HP:0002808	Kyphosis
OMIM:607014	IDUA	3425	HP:0000463	Anteverted nares
OMIM:607014	IDUA	3425	HP:0001252	Muscular hypotonia
OMIM:607014	IDUA	3425	HP:0001706	Endocardial fibroelastosis
OMIM:607014	IDUA	3425	HP:0001249	Intellectual disability
OMIM:607014	IDUA	3425	HP:0000998	Hypertrichosis
OMIM:607014	IDUA	3425	HP:0002205	Recurrent respiratory infections
OMIM:607014	IDUA	3425	HP:0012471	Thick vermilion border
OMIM:607014	IDUA	3425	HP:0000232	Everted lower lip vermilion
OMIM:607014	IDUA	3425	HP:0100790	Hernia
OMIM:607014	IDUA	3425	HP:0000894	Short clavicles
OMIM:607014	IDUA	3425	HP:0000157	Abnormality of the tongue
OMIM:607014	IDUA	3425	HP:0007759	Opacification of the corneal stroma
OMIM:607014	IDUA	3425	HP:0000023	Inguinal hernia
OMIM:607014	IDUA	3425	HP:0000212	Gingival overgrowth
OMIM:607014	IDUA	3425	HP:0000256	Macrocephaly
OMIM:607014	IDUA	3425	HP:0000280	Coarse facial features
OMIM:607014	IDUA	3425	HP:0004322	Short stature
OMIM:607014	IDUA	3425	HP:0000691	Microdontia
OMIM:607014	IDUA	3425	HP:0000546	Retinal degeneration
OMIM:607014	IDUA	3425	HP:0000431	Wide nasal bridge
OMIM:607014	IDUA	3425	HP:0000488	Retinopathy
OMIM:607014	IDUA	3425	HP:0001167	Abnormality of finger
OMIM:607014	IDUA	3425	HP:0002024	Malabsorption
OMIM:607014	IDUA	3425	HP:0002650	Scoliosis
OMIM:607014	IDUA	3425	HP:0001000	Abnormality of skin pigmentation
OMIM:607014	IDUA	3425	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607014	IDUA	3425	HP:0002180	Neurodegeneration
OMIM:607014	IDUA	3425	HP:0001537	Umbilical hernia
OMIM:607014	IDUA	3425	HP:0002007	Frontal bossing
OMIM:607014	IDUA	3425	HP:0001007	Hirsutism
OMIM:607014	IDUA	3425	HP:0100729	Large face
OMIM:607014	IDUA	3425	HP:0002652	Skeletal dysplasia
OMIM:607014	IDUA	3425	HP:0002869	Flared iliac wings
OMIM:607014	IDUA	3425	HP:0005930	Abnormality of epiphysis morphology
OMIM:607014	IDUA	3425	HP:0000574	Thick eyebrow
OMIM:607014	IDUA	3425	HP:0000822	Hypertension
OMIM:607014	IDUA	3425	HP:0000762	Decreased nerve conduction velocity
OMIM:607014	IDUA	3425	HP:0100543	Cognitive impairment
OMIM:607014	IDUA	3425	HP:0000268	Dolichocephaly
OMIM:607014	IDUA	3425	HP:0009811	Abnormality of the elbow
OMIM:607014	IDUA	3425	HP:0001638	Cardiomyopathy
OMIM:613674	SOX17	64321	HP:0000006	Autosomal dominant inheritance
OMIM:613674	SOX17	64321	HP:0000126	Hydronephrosis
OMIM:613674	SOX17	64321	HP:0001561	Polyhydramnios
OMIM:613674	SOX17	64321	HP:0000072	Hydroureter
OMIM:613674	SOX17	64321	HP:0000076	Vesicoureteral reflux
OMIM:613674	TNXB	7148	HP:0000006	Autosomal dominant inheritance
OMIM:613674	TNXB	7148	HP:0000126	Hydronephrosis
OMIM:613674	TNXB	7148	HP:0001561	Polyhydramnios
OMIM:613674	TNXB	7148	HP:0000072	Hydroureter
OMIM:613674	TNXB	7148	HP:0000076	Vesicoureteral reflux
OMIM:613674	ROBO2	6092	HP:0000006	Autosomal dominant inheritance
OMIM:613674	ROBO2	6092	HP:0000126	Hydronephrosis
OMIM:613674	ROBO2	6092	HP:0001561	Polyhydramnios
OMIM:613674	ROBO2	6092	HP:0000072	Hydroureter
OMIM:613674	ROBO2	6092	HP:0000076	Vesicoureteral reflux
OMIM:268800	HEXB	3074	HP:0002311	Incoordination
OMIM:268800	HEXB	3074	HP:0000280	Coarse facial features
OMIM:268800	HEXB	3074	HP:0000293	Full cheeks
OMIM:268800	HEXB	3074	HP:0000158	Macroglossia
OMIM:268800	HEXB	3074	HP:0001744	Splenomegaly
OMIM:268800	HEXB	3074	HP:0100543	Cognitive impairment
OMIM:268800	HEXB	3074	HP:0001347	Hyperreflexia
OMIM:268800	HEXB	3074	HP:0000020	Urinary incontinence
OMIM:268800	HEXB	3074	HP:0002652	Skeletal dysplasia
OMIM:268800	HEXB	3074	HP:0000505	Visual impairment
OMIM:268800	HEXB	3074	HP:0000618	Blindness
OMIM:268800	HEXB	3074	HP:0003202	Skeletal muscle atrophy
OMIM:268800	HEXB	3074	HP:0000966	Hypohidrosis
OMIM:268800	HEXB	3074	HP:0001103	Abnormality of the macula
OMIM:268800	HEXB	3074	HP:0000365	Hearing impairment
OMIM:268800	HEXB	3074	HP:0001433	Hepatosplenomegaly
OMIM:268800	HEXB	3074	HP:0002380	Fasciculations
OMIM:268800	HEXB	3074	HP:0000975	Hyperhidrosis
OMIM:268800	HEXB	3074	HP:0002028	Chronic diarrhea
OMIM:268800	HEXB	3074	HP:0001250	Seizures
OMIM:268800	HEXB	3074	HP:0002240	Hepatomegaly
OMIM:268800	HEXB	3074	HP:0002574	Episodic abdominal pain
OMIM:268800	HEXB	3074	HP:0000256	Macrocephaly
OMIM:268800	HEXB	3074	HP:0001251	Ataxia
OMIM:268800	HEXB	3074	HP:0001635	Congestive heart failure
OMIM:268800	HEXB	3074	HP:0001324	Muscle weakness
OMIM:268800	HEXB	3074	HP:0001640	Cardiomegaly
OMIM:268800	HEXB	3074	HP:0002808	Kyphosis
OMIM:268800	HEXB	3074	HP:0001260	Dysarthria
OMIM:268800	HEXB	3074	HP:0002205	Recurrent respiratory infections
OMIM:268800	HEXB	3074	HP:0100022	Abnormality of movement
OMIM:268800	HEXB	3074	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:212080	CYTB	4519	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:212080	CYTB	4519	HP:0001522	Death in infancy
OMIM:212080	CYTB	4519	HP:0001638	Cardiomyopathy
OMIM:212080	CYTB	4519	HP:0001635	Congestive heart failure
OMIM:212080	CYTB	4519	HP:0000007	Autosomal recessive inheritance
OMIM:212080	CYTB	4519	HP:0000252	Microcephaly
OMIM:610140	LMNA	4000	HP:0003198	Myopathy
OMIM:610140	LMNA	4000	HP:0030084	Clinodactyly
OMIM:610140	LMNA	4000	HP:0001156	Brachydactyly syndrome
OMIM:610140	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:610140	LMNA	4000	HP:0001159	Syndactyly
OMIM:610140	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:610140	LMNA	4000	HP:0010239	Aplasia of the middle phalanx of the hand
OMIM:615224	PER2	8864	HP:0000006	Autosomal dominant inheritance
OMIM:615224	CSNK1D	1453	HP:0000006	Autosomal dominant inheritance
OMIM:609218	SLC38A8	146167	HP:0007663	Reduced visual acuity
OMIM:609218	SLC38A8	146167	HP:0000639	Nystagmus
OMIM:609218	SLC38A8	146167	HP:0000007	Autosomal recessive inheritance
OMIM:609218	SLC38A8	146167	HP:0000505	Visual impairment
OMIM:609218	SLC38A8	146167	HP:0000568	Microphthalmia
OMIM:609218	SLC38A8	146167	HP:0000627	Posterior embryotoxon
ORPHANET:321	EXT1	2131	HP:0002757	Recurrent fractures
ORPHANET:321	EXT1	2131	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:321	EXT1	2131	HP:0001324	Muscle weakness
ORPHANET:321	EXT1	2131	HP:0002992	Abnormality of the tibia
ORPHANET:321	EXT1	2131	HP:0000463	Anteverted nares
ORPHANET:321	EXT1	2131	HP:0002997	Abnormality of the ulna
ORPHANET:321	EXT1	2131	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:321	EXT1	2131	HP:0000164	Abnormality of the teeth
ORPHANET:321	EXT1	2131	HP:0002617	Aneurysm
ORPHANET:321	EXT1	2131	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:321	EXT1	2131	HP:0003063	Abnormality of the humerus
ORPHANET:321	EXT1	2131	HP:0006824	Cranial nerve paralysis
ORPHANET:321	EXT1	2131	HP:0100777	Exostoses
ORPHANET:321	EXT1	2131	HP:0100240	Synostosis of joints
ORPHANET:321	EXT1	2131	HP:0002823	Abnormality of the femur
ORPHANET:321	EXT1	2131	HP:0002983	Micromelia
ORPHANET:321	EXT1	2131	HP:0004322	Short stature
ORPHANET:321	EXT1	2131	HP:0002857	Genu valgum
ORPHANET:321	EXT1	2131	HP:0000934	Chondrocalcinosis
ORPHANET:321	EXT1	2131	HP:0003067	Madelung deformity
ORPHANET:321	EXT1	2131	HP:0002758	Osteoarthritis
ORPHANET:321	EXT1	2131	HP:0002653	Bone pain
ORPHANET:321	EXT1	2131	HP:0000944	Abnormality of the metaphyses
ORPHANET:321	EXT1	2131	HP:0003042	Elbow dislocation
ORPHANET:321	EXT1	2131	HP:0002650	Scoliosis
ORPHANET:321	EXT1	2131	HP:0002797	Osteolysis
ORPHANET:321	EXT1	2131	HP:0007256	Abnormal pyramidal signs
ORPHANET:321	EXT2	2132	HP:0002757	Recurrent fractures
ORPHANET:321	EXT2	2132	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:321	EXT2	2132	HP:0001324	Muscle weakness
ORPHANET:321	EXT2	2132	HP:0002992	Abnormality of the tibia
ORPHANET:321	EXT2	2132	HP:0000463	Anteverted nares
ORPHANET:321	EXT2	2132	HP:0002997	Abnormality of the ulna
ORPHANET:321	EXT2	2132	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:321	EXT2	2132	HP:0000164	Abnormality of the teeth
ORPHANET:321	EXT2	2132	HP:0002617	Aneurysm
ORPHANET:321	EXT2	2132	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:321	EXT2	2132	HP:0003063	Abnormality of the humerus
ORPHANET:321	EXT2	2132	HP:0006824	Cranial nerve paralysis
ORPHANET:321	EXT2	2132	HP:0100777	Exostoses
ORPHANET:321	EXT2	2132	HP:0100240	Synostosis of joints
ORPHANET:321	EXT2	2132	HP:0002823	Abnormality of the femur
ORPHANET:321	EXT2	2132	HP:0002983	Micromelia
ORPHANET:321	EXT2	2132	HP:0004322	Short stature
ORPHANET:321	EXT2	2132	HP:0002857	Genu valgum
ORPHANET:321	EXT2	2132	HP:0000934	Chondrocalcinosis
ORPHANET:321	EXT2	2132	HP:0003067	Madelung deformity
ORPHANET:321	EXT2	2132	HP:0002758	Osteoarthritis
ORPHANET:321	EXT2	2132	HP:0002653	Bone pain
ORPHANET:321	EXT2	2132	HP:0000944	Abnormality of the metaphyses
ORPHANET:321	EXT2	2132	HP:0003042	Elbow dislocation
ORPHANET:321	EXT2	2132	HP:0002650	Scoliosis
ORPHANET:321	EXT2	2132	HP:0002797	Osteolysis
ORPHANET:321	EXT2	2132	HP:0007256	Abnormal pyramidal signs
OMIM:615991	MKKS	8195	HP:0001513	Obesity
OMIM:615991	MKKS	8195	HP:0001249	Intellectual disability
OMIM:615991	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615991	MKKS	8195	HP:0001263	Global developmental delay
OMIM:615991	NPHP1	4867	HP:0001513	Obesity
OMIM:615991	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:615991	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615991	NPHP1	4867	HP:0001263	Global developmental delay
OMIM:615991	BBIP1	92482	HP:0001513	Obesity
OMIM:615991	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:615991	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615991	BBIP1	92482	HP:0001263	Global developmental delay
OMIM:615991	ARL6	84100	HP:0001513	Obesity
OMIM:615991	ARL6	84100	HP:0001249	Intellectual disability
OMIM:615991	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615991	ARL6	84100	HP:0001263	Global developmental delay
OMIM:615991	BBS1	582	HP:0001513	Obesity
OMIM:615991	BBS1	582	HP:0001249	Intellectual disability
OMIM:615991	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615991	BBS1	582	HP:0001263	Global developmental delay
OMIM:615991	BBS2	583	HP:0001513	Obesity
OMIM:615991	BBS2	583	HP:0001249	Intellectual disability
OMIM:615991	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615991	BBS2	583	HP:0001263	Global developmental delay
OMIM:615991	BBS4	585	HP:0001513	Obesity
OMIM:615991	BBS4	585	HP:0001249	Intellectual disability
OMIM:615991	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615991	BBS4	585	HP:0001263	Global developmental delay
OMIM:615991	BBS9	27241	HP:0001513	Obesity
OMIM:615991	BBS9	27241	HP:0001249	Intellectual disability
OMIM:615991	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615991	BBS9	27241	HP:0001263	Global developmental delay
OMIM:615991	TTC8	123016	HP:0001513	Obesity
OMIM:615991	TTC8	123016	HP:0001249	Intellectual disability
OMIM:615991	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615991	TTC8	123016	HP:0001263	Global developmental delay
OMIM:615991	BBS12	166379	HP:0001513	Obesity
OMIM:615991	BBS12	166379	HP:0001249	Intellectual disability
OMIM:615991	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615991	BBS12	166379	HP:0001263	Global developmental delay
OMIM:615991	TRIM32	22954	HP:0001513	Obesity
OMIM:615991	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:615991	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615991	TRIM32	22954	HP:0001263	Global developmental delay
OMIM:615991	BBS7	55212	HP:0001513	Obesity
OMIM:615991	BBS7	55212	HP:0001249	Intellectual disability
OMIM:615991	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615991	BBS7	55212	HP:0001263	Global developmental delay
OMIM:615991	IFT27	11020	HP:0001513	Obesity
OMIM:615991	IFT27	11020	HP:0001249	Intellectual disability
OMIM:615991	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615991	IFT27	11020	HP:0001263	Global developmental delay
OMIM:615991	IFT172	26160	HP:0001513	Obesity
OMIM:615991	IFT172	26160	HP:0001249	Intellectual disability
OMIM:615991	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615991	IFT172	26160	HP:0001263	Global developmental delay
OMIM:615991	WDPCP	51057	HP:0001513	Obesity
OMIM:615991	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:615991	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615991	WDPCP	51057	HP:0001263	Global developmental delay
OMIM:615991	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615991	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:615991	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615991	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:615991	MKS1	54903	HP:0001513	Obesity
OMIM:615991	MKS1	54903	HP:0001249	Intellectual disability
OMIM:615991	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615991	MKS1	54903	HP:0001263	Global developmental delay
OMIM:615991	CEP290	80184	HP:0001513	Obesity
OMIM:615991	CEP290	80184	HP:0001249	Intellectual disability
OMIM:615991	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615991	CEP290	80184	HP:0001263	Global developmental delay
OMIM:615991	BBS5	129880	HP:0001513	Obesity
OMIM:615991	BBS5	129880	HP:0001249	Intellectual disability
OMIM:615991	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615991	BBS5	129880	HP:0001263	Global developmental delay
OMIM:615991	LZTFL1	54585	HP:0001513	Obesity
OMIM:615991	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:615991	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615991	LZTFL1	54585	HP:0001263	Global developmental delay
OMIM:615991	BBS10	79738	HP:0001513	Obesity
OMIM:615991	BBS10	79738	HP:0001249	Intellectual disability
OMIM:615991	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615991	BBS10	79738	HP:0001263	Global developmental delay
OMIM:614714	FDPS	2224	HP:0000006	Autosomal dominant inheritance
OMIM:614714	MVD	4597	HP:0000006	Autosomal dominant inheritance
OMIM:614714	MVK	4598	HP:0000006	Autosomal dominant inheritance
OMIM:614714	SLC17A9	63910	HP:0000006	Autosomal dominant inheritance
OMIM:300755	BTK	695	HP:0000388	Otitis media
OMIM:300755	BTK	695	HP:0002014	Diarrhea
OMIM:300755	BTK	695	HP:0000365	Hearing impairment
OMIM:300755	BTK	695	HP:0000509	Conjunctivitis
OMIM:300755	BTK	695	HP:0002383	Encephalitis
OMIM:300755	BTK	695	HP:0001419	X-linked recessive inheritance
OMIM:300755	BTK	695	HP:0000246	Sinusitis
OMIM:300755	BTK	695	HP:0002664	Neoplasm
OMIM:300755	BTK	695	HP:0004432	Agammaglobulinemia
OMIM:300755	BTK	695	HP:0001287	Meningitis
OMIM:300755	BTK	695	HP:0002090	Pneumonia
OMIM:300755	BTK	695	HP:0000750	Delayed speech and language development
OMIM:300755	BTK	695	HP:0000010	Recurrent urinary tract infections
OMIM:614299	BOLA3	388962	HP:0002013	Vomiting
OMIM:614299	BOLA3	388962	HP:0001263	Global developmental delay
OMIM:614299	BOLA3	388962	HP:0001324	Muscle weakness
OMIM:614299	BOLA3	388962	HP:0003128	Lactic acidosis
OMIM:614299	BOLA3	388962	HP:0002878	Respiratory failure
OMIM:614299	BOLA3	388962	HP:0200134	Epileptic encephalopathy
OMIM:614299	BOLA3	388962	HP:0001644	Dilated cardiomyopathy
OMIM:614299	BOLA3	388962	HP:0002240	Hepatomegaly
OMIM:614299	BOLA3	388962	HP:0001250	Seizures
OMIM:614299	BOLA3	388962	HP:0001254	Lethargy
OMIM:614299	BOLA3	388962	HP:0001522	Death in infancy
OMIM:614299	BOLA3	388962	HP:0000007	Autosomal recessive inheritance
OMIM:600792	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:600792	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:600792	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:600792	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:600792	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:600792	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:600792	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:600792	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:600792	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:600792	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:600792	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:600792	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:600792	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:600792	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:600792	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:600792	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:600792	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:600792	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:600792	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:600792	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:600792	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:600792	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:600792	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:600792	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:600792	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:600792	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:600792	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:600792	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:600792	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:600792	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:600792	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:600792	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:600792	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:600792	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:600792	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:600792	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:600792	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:600792	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:600792	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:600792	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:600792	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:600792	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:600792	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:600792	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:600792	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:600792	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:600792	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:600792	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:600792	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:600792	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:600792	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:600792	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:600792	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:600792	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:600792	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:600792	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:600792	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:600792	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:600792	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:600792	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:600792	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:600792	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:600792	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:600792	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:600792	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:600792	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:600792	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:600792	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:600792	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:600792	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:600792	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:600792	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:600792	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:600792	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:600792	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:600792	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:600792	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:600792	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:600792	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:600792	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:600792	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:600792	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:600792	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:600792	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:600792	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:600792	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:600792	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:600792	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:600792	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:600792	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:600792	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:600792	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:600792	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:600792	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:600792	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:600792	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:600792	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:600792	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:600792	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:600792	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:600792	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:600792	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:600792	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:600792	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:600792	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:600792	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:600792	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:600792	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:600792	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:600792	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:600792	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:600792	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:600792	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:600792	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:600792	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:600792	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:600792	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:600792	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:600792	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:600792	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:278850	SRY	6736	HP:0010459	True hermaphroditism
OMIM:278850	SRY	6736	HP:0000027	Azoospermia
OMIM:278850	SRY	6736	HP:0000051	Perineal hypospadias
OMIM:278850	SRY	6736	HP:0000046	Scrotal hypoplasia
OMIM:278850	SRY	6736	HP:0000006	Autosomal dominant inheritance
OMIM:278850	SRY	6736	HP:0000048	Bifid scrotum
OMIM:278850	SRY	6736	HP:0012861	Ovotestis
OMIM:278850	SRY	6736	HP:0008726	Hypoplasia of the vagina
OMIM:278850	SRY	6736	HP:0000054	Micropenis
OMIM:278850	SRY	6736	HP:0040171	Decreased serum testosterone level
OMIM:278850	SRY	6736	HP:0000013	Hypoplasia of the uterus
OMIM:278850	SOX3	6658	HP:0010459	True hermaphroditism
OMIM:278850	SOX3	6658	HP:0000027	Azoospermia
OMIM:278850	SOX3	6658	HP:0000051	Perineal hypospadias
OMIM:278850	SOX3	6658	HP:0000046	Scrotal hypoplasia
OMIM:278850	SOX3	6658	HP:0000006	Autosomal dominant inheritance
OMIM:278850	SOX3	6658	HP:0000048	Bifid scrotum
OMIM:278850	SOX3	6658	HP:0012861	Ovotestis
OMIM:278850	SOX3	6658	HP:0008726	Hypoplasia of the vagina
OMIM:278850	SOX3	6658	HP:0000054	Micropenis
OMIM:278850	SOX3	6658	HP:0040171	Decreased serum testosterone level
OMIM:278850	SOX3	6658	HP:0000013	Hypoplasia of the uterus
OMIM:278850	SOX9	6662	HP:0010459	True hermaphroditism
OMIM:278850	SOX9	6662	HP:0000027	Azoospermia
OMIM:278850	SOX9	6662	HP:0000051	Perineal hypospadias
OMIM:278850	SOX9	6662	HP:0000046	Scrotal hypoplasia
OMIM:278850	SOX9	6662	HP:0000006	Autosomal dominant inheritance
OMIM:278850	SOX9	6662	HP:0000048	Bifid scrotum
OMIM:278850	SOX9	6662	HP:0012861	Ovotestis
OMIM:278850	SOX9	6662	HP:0008726	Hypoplasia of the vagina
OMIM:278850	SOX9	6662	HP:0000054	Micropenis
OMIM:278850	SOX9	6662	HP:0040171	Decreased serum testosterone level
OMIM:278850	SOX9	6662	HP:0000013	Hypoplasia of the uterus
OMIM:604302	IL6	3569	HP:0000988	Skin rash
OMIM:604302	IL6	3569	HP:0002240	Hepatomegaly
OMIM:604302	IL6	3569	HP:0001744	Splenomegaly
OMIM:604302	IL6	3569	HP:0001369	Arthritis
OMIM:604302	IL6	3569	HP:0002960	Autoimmunity
OMIM:604302	IL6	3569	HP:0100721	Mediastinal lymphadenopathy
OMIM:604302	IL6	3569	HP:0002027	Abdominal pain
OMIM:604302	IL6	3569	HP:0002829	Arthralgia
OMIM:604302	IL6	3569	HP:0004370	Abnormality of temperature regulation
OMIM:604302	MIF	4282	HP:0000988	Skin rash
OMIM:604302	MIF	4282	HP:0002240	Hepatomegaly
OMIM:604302	MIF	4282	HP:0001744	Splenomegaly
OMIM:604302	MIF	4282	HP:0001369	Arthritis
OMIM:604302	MIF	4282	HP:0002960	Autoimmunity
OMIM:604302	MIF	4282	HP:0100721	Mediastinal lymphadenopathy
OMIM:604302	MIF	4282	HP:0002027	Abdominal pain
OMIM:604302	MIF	4282	HP:0002829	Arthralgia
OMIM:604302	MIF	4282	HP:0004370	Abnormality of temperature regulation
OMIM:204690	FAM20A	54757	HP:0000112	Nephropathy
OMIM:204690	FAM20A	54757	HP:0000805	Enuresis
OMIM:204690	FAM20A	54757	HP:0000121	Nephrocalcinosis
OMIM:204690	FAM20A	54757	HP:0001548	Overgrowth
OMIM:204690	FAM20A	54757	HP:0000212	Gingival overgrowth
OMIM:204690	FAM20A	54757	HP:0000684	Delayed eruption of teeth
OMIM:204690	FAM20A	54757	HP:0000696	Delayed eruption of permanent teeth
OMIM:204690	FAM20A	54757	HP:0000682	Abnormality of dental enamel
OMIM:204690	FAM20A	54757	HP:0000007	Autosomal recessive inheritance
OMIM:204690	FAM20A	54757	HP:0000083	Renal insufficiency
OMIM:204690	FAM20A	54757	HP:0100530	Abnormality of calcium-phosphate metabolism
OMIM:160565	STIM1	6786	HP:0003701	Proximal muscle weakness
OMIM:160565	STIM1	6786	HP:0003677	Slow progression
OMIM:160565	STIM1	6786	HP:0002359	Frequent falls
OMIM:160565	STIM1	6786	HP:0007126	Proximal amyotrophy
OMIM:160565	STIM1	6786	HP:0000006	Autosomal dominant inheritance
OMIM:160565	STIM1	6786	HP:0000662	Nyctalopia
OMIM:160565	STIM1	6786	HP:0002093	Respiratory insufficiency
OMIM:160565	STIM1	6786	HP:0000615	Abnormality of the pupil
OMIM:160565	STIM1	6786	HP:0003581	Adult onset
OMIM:160565	STIM1	6786	HP:0000544	External ophthalmoplegia
OMIM:160565	STIM1	6786	HP:0003198	Myopathy
OMIM:160565	STIM1	6786	HP:0001371	Flexion contracture
OMIM:160565	STIM1	6786	HP:0003236	Elevated serum creatine phosphokinase
OMIM:160565	STIM1	6786	HP:0003394	Muscle cramps
OMIM:160565	ORAI1	84876	HP:0003701	Proximal muscle weakness
OMIM:160565	ORAI1	84876	HP:0003677	Slow progression
OMIM:160565	ORAI1	84876	HP:0002359	Frequent falls
OMIM:160565	ORAI1	84876	HP:0007126	Proximal amyotrophy
OMIM:160565	ORAI1	84876	HP:0000006	Autosomal dominant inheritance
OMIM:160565	ORAI1	84876	HP:0000662	Nyctalopia
OMIM:160565	ORAI1	84876	HP:0002093	Respiratory insufficiency
OMIM:160565	ORAI1	84876	HP:0000615	Abnormality of the pupil
OMIM:160565	ORAI1	84876	HP:0003581	Adult onset
OMIM:160565	ORAI1	84876	HP:0000544	External ophthalmoplegia
OMIM:160565	ORAI1	84876	HP:0003198	Myopathy
OMIM:160565	ORAI1	84876	HP:0001371	Flexion contracture
OMIM:160565	ORAI1	84876	HP:0003236	Elevated serum creatine phosphokinase
OMIM:160565	ORAI1	84876	HP:0003394	Muscle cramps
OMIM:236792	L2HGDH	79944	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:236792	L2HGDH	79944	HP:0002376	Developmental regression
OMIM:236792	L2HGDH	79944	HP:0010864	Intellectual disability, severe
OMIM:236792	L2HGDH	79944	HP:0000007	Autosomal recessive inheritance
OMIM:236792	L2HGDH	79944	HP:0000256	Macrocephaly
OMIM:236792	L2HGDH	79944	HP:0001250	Seizures
OMIM:236792	L2HGDH	79944	HP:0100543	Cognitive impairment
OMIM:236792	L2HGDH	79944	HP:0004375	Neoplasm of the nervous system
OMIM:236792	L2HGDH	79944	HP:0001276	Hypertonia
OMIM:236792	L2HGDH	79944	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:236792	L2HGDH	79944	HP:0002171	Gliosis
OMIM:236792	L2HGDH	79944	HP:0007256	Abnormal pyramidal signs
OMIM:236792	L2HGDH	79944	HP:0006887	Intellectual disability, progressive
OMIM:236792	L2HGDH	79944	HP:0000639	Nystagmus
OMIM:236792	L2HGDH	79944	HP:0000648	Optic atrophy
OMIM:236792	L2HGDH	79944	HP:0002357	Dysphasia
OMIM:236792	L2HGDH	79944	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:236792	L2HGDH	79944	HP:0000365	Hearing impairment
OMIM:236792	L2HGDH	79944	HP:0001252	Muscular hypotonia
OMIM:236792	L2HGDH	79944	HP:0002383	Encephalitis
OMIM:236792	L2HGDH	79944	HP:0000486	Strabismus
OMIM:236792	L2HGDH	79944	HP:0001285	Spastic tetraparesis
OMIM:236792	L2HGDH	79944	HP:0002167	Neurological speech impairment
OMIM:236792	L2HGDH	79944	HP:0001272	Cerebellar atrophy
OMIM:236792	L2HGDH	79944	HP:0002352	Leukoencephalopathy
OMIM:236792	L2HGDH	79944	HP:0003593	Infantile onset
OMIM:236792	L2HGDH	79944	HP:0000708	Behavioral abnormality
OMIM:314200	SERPINA7	6906	HP:0001419	X-linked recessive inheritance
OMIM:314200	SERPINA7	6906	HP:0001263	Global developmental delay
OMIM:251950	PNPLA8	50640	HP:0003128	Lactic acidosis
OMIM:251950	PNPLA8	50640	HP:0000407	Sensorineural hearing impairment
OMIM:251950	PNPLA8	50640	HP:0008897	Postnatal growth retardation
OMIM:251950	PNPLA8	50640	HP:0002151	Increased serum lactate
OMIM:251950	PNPLA8	50640	HP:0003542	Increased serum pyruvate
OMIM:251950	PNPLA8	50640	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:251950	PNPLA8	50640	HP:0003457	EMG abnormality
OMIM:251950	PNPLA8	50640	HP:0004322	Short stature
OMIM:251950	PNPLA8	50640	HP:0003391	Gowers sign
OMIM:251950	PNPLA8	50640	HP:0001260	Dysarthria
OMIM:251950	PNPLA8	50640	HP:0001252	Muscular hypotonia
OMIM:251950	PNPLA8	50640	HP:0001332	Dystonia
OMIM:251950	PNPLA8	50640	HP:0001310	Dysmetria
OMIM:251950	PNPLA8	50640	HP:0000007	Autosomal recessive inheritance
OMIM:251950	PNPLA8	50640	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:251950	PNPLA8	50640	HP:0003198	Myopathy
OMIM:251950	PNPLA8	50640	HP:0001250	Seizures
OMIM:251950	PNPLA8	50640	HP:0001257	Spasticity
OMIM:251950	PNPLA8	50640	HP:0003202	Skeletal muscle atrophy
ORPHANET:444	EPS8L3	79574	HP:0002208	Coarse hair
ORPHANET:444	EPS8L3	79574	HP:0001596	Alopecia
ORPHANET:444	EPS8L3	79574	HP:0000478	Abnormality of the eye
ORPHANET:444	EPS8L3	79574	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:444	HR	55806	HP:0002208	Coarse hair
ORPHANET:444	HR	55806	HP:0001596	Alopecia
ORPHANET:444	HR	55806	HP:0000478	Abnormality of the eye
ORPHANET:444	HR	55806	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:204500	TPP1	1200	HP:0000750	Delayed speech and language development
OMIM:204500	TPP1	1200	HP:0000007	Autosomal recessive inheritance
OMIM:204500	TPP1	1200	HP:0002059	Cerebral atrophy
OMIM:204500	TPP1	1200	HP:0000550	Undetectable electroretinogram
OMIM:204500	TPP1	1200	HP:0001336	Myoclonus
OMIM:204500	TPP1	1200	HP:0001311	Abnormal nervous system electrophysiology
OMIM:204500	TPP1	1200	HP:0000529	Progressive visual loss
OMIM:204500	TPP1	1200	HP:0000546	Retinal degeneration
OMIM:204500	TPP1	1200	HP:0001250	Seizures
OMIM:204500	TPP1	1200	HP:0001251	Ataxia
OMIM:204500	TPP1	1200	HP:0002376	Developmental regression
OMIM:314390	ZIC3	7547	HP:0000126	Hydronephrosis
OMIM:314390	ZIC3	7547	HP:0003468	Abnormality of the vertebrae
OMIM:314390	ZIC3	7547	HP:0003974	Absent radius
OMIM:314390	ZIC3	7547	HP:0002575	Tracheoesophageal fistula
OMIM:314390	ZIC3	7547	HP:0009623	Proximal placement of thumb
OMIM:314390	ZIC3	7547	HP:0005792	Short humerus
OMIM:314390	ZIC3	7547	HP:0001161	Hand polydactyly
OMIM:314390	ZIC3	7547	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:314390	ZIC3	7547	HP:0000238	Hydrocephalus
OMIM:314390	ZIC3	7547	HP:0002023	Anal atresia
OMIM:314390	FANCB	2187	HP:0000126	Hydronephrosis
OMIM:314390	FANCB	2187	HP:0003468	Abnormality of the vertebrae
OMIM:314390	FANCB	2187	HP:0003974	Absent radius
OMIM:314390	FANCB	2187	HP:0002575	Tracheoesophageal fistula
OMIM:314390	FANCB	2187	HP:0009623	Proximal placement of thumb
OMIM:314390	FANCB	2187	HP:0005792	Short humerus
OMIM:314390	FANCB	2187	HP:0001161	Hand polydactyly
OMIM:314390	FANCB	2187	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:314390	FANCB	2187	HP:0000238	Hydrocephalus
OMIM:314390	FANCB	2187	HP:0002023	Anal atresia
OMIM:176410	LHCGR	3973	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176410	LHCGR	3973	HP:0008734	Decreased testicular size
OMIM:176410	LHCGR	3973	HP:0005616	Accelerated skeletal maturation
OMIM:176410	LHCGR	3973	HP:0000025	Functional abnormality of male internal genitalia
OMIM:176410	LHCGR	3973	HP:0000098	Tall stature
OMIM:176410	LHCGR	3973	HP:0000053	Macroorchidism
OMIM:176410	LHCGR	3973	HP:0001061	Acne
OMIM:176410	LHCGR	3973	HP:0000144	Decreased fertility
OMIM:176410	LHCGR	3973	HP:0001470	Sex-limited autosomal dominant
OMIM:176410	LHCGR	3973	HP:0000040	Long penis
OMIM:612444	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:612444	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:612444	DNAAF2	55172	HP:0011108	Recurrent sinusitis
OMIM:612444	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:612444	DNAAF2	55172	HP:0003251	Male infertility
OMIM:612444	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:612444	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:612444	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:612444	CCNO	10309	HP:0011108	Recurrent sinusitis
OMIM:612444	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:612444	CCNO	10309	HP:0003251	Male infertility
OMIM:612444	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:612444	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:612444	DNAAF5	54919	HP:0011108	Recurrent sinusitis
OMIM:612444	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:612444	DNAAF5	54919	HP:0003251	Male infertility
OMIM:612444	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:612444	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:612444	DNAAF3	352909	HP:0011108	Recurrent sinusitis
OMIM:612444	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:612444	DNAAF3	352909	HP:0003251	Male infertility
OMIM:612444	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:612444	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:612444	DNAI1	27019	HP:0011108	Recurrent sinusitis
OMIM:612444	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:612444	DNAI1	27019	HP:0003251	Male infertility
OMIM:612444	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:612444	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:612444	DRC1	92749	HP:0011108	Recurrent sinusitis
OMIM:612444	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:612444	DRC1	92749	HP:0003251	Male infertility
OMIM:612444	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:612444	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:612444	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:612444	SPAG1	6674	HP:0011108	Recurrent sinusitis
OMIM:612444	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:612444	SPAG1	6674	HP:0003251	Male infertility
OMIM:612444	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:612444	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:612444	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:612444	RSPH3	83861	HP:0011108	Recurrent sinusitis
OMIM:612444	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:612444	RSPH3	83861	HP:0003251	Male infertility
OMIM:612444	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:612444	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:612444	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:612444	RPGR	6103	HP:0011108	Recurrent sinusitis
OMIM:612444	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:612444	RPGR	6103	HP:0003251	Male infertility
OMIM:612444	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:612444	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:612444	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:612444	LRRC6	23639	HP:0011108	Recurrent sinusitis
OMIM:612444	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:612444	LRRC6	23639	HP:0003251	Male infertility
OMIM:612444	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:612444	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:612444	DNAL1	83544	HP:0011108	Recurrent sinusitis
OMIM:612444	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:612444	DNAL1	83544	HP:0003251	Male infertility
OMIM:612444	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:612444	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:612444	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:612444	ARMC4	55130	HP:0011108	Recurrent sinusitis
OMIM:612444	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:612444	ARMC4	55130	HP:0003251	Male infertility
OMIM:612444	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:612444	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:612444	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:612444	CCDC103	388389	HP:0011108	Recurrent sinusitis
OMIM:612444	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:612444	CCDC103	388389	HP:0003251	Male infertility
OMIM:612444	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:612444	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:612444	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:612444	OFD1	8481	HP:0011108	Recurrent sinusitis
OMIM:612444	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:612444	OFD1	8481	HP:0003251	Male infertility
OMIM:612444	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:612444	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:612444	DNAAF1	123872	HP:0011108	Recurrent sinusitis
OMIM:612444	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:612444	DNAAF1	123872	HP:0003251	Male infertility
OMIM:612444	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:612444	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:612444	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:612444	RSPH4A	345895	HP:0011108	Recurrent sinusitis
OMIM:612444	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:612444	RSPH4A	345895	HP:0003251	Male infertility
OMIM:612444	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:612444	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:612444	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:612444	RSPH1	89765	HP:0011108	Recurrent sinusitis
OMIM:612444	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:612444	RSPH1	89765	HP:0003251	Male infertility
OMIM:612444	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:612444	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:612444	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:612444	ZMYND10	51364	HP:0011108	Recurrent sinusitis
OMIM:612444	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:612444	ZMYND10	51364	HP:0003251	Male infertility
OMIM:612444	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:612444	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:612444	DNAH5	1767	HP:0011108	Recurrent sinusitis
OMIM:612444	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:612444	DNAH5	1767	HP:0003251	Male infertility
OMIM:612444	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:612444	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:612444	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:612444	CCDC65	85478	HP:0011108	Recurrent sinusitis
OMIM:612444	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:612444	CCDC65	85478	HP:0003251	Male infertility
OMIM:612444	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:612444	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:612444	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:612444	C21ORF59	56683	HP:0011108	Recurrent sinusitis
OMIM:612444	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:612444	C21ORF59	56683	HP:0003251	Male infertility
OMIM:612444	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:612444	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:612444	DYX1C1	161582	HP:0011108	Recurrent sinusitis
OMIM:612444	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:612444	DYX1C1	161582	HP:0003251	Male infertility
OMIM:612444	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:612444	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:612444	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:612444	CCDC151	115948	HP:0011108	Recurrent sinusitis
OMIM:612444	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:612444	CCDC151	115948	HP:0003251	Male infertility
OMIM:612444	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:612444	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:612444	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:612444	RSPH9	221421	HP:0011108	Recurrent sinusitis
OMIM:612444	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:612444	RSPH9	221421	HP:0003251	Male infertility
OMIM:612444	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:612444	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:612444	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:612444	CCDC39	339829	HP:0011108	Recurrent sinusitis
OMIM:612444	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:612444	CCDC39	339829	HP:0003251	Male infertility
OMIM:612444	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:612444	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:612444	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:612444	HYDIN	54768	HP:0011108	Recurrent sinusitis
OMIM:612444	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:612444	HYDIN	54768	HP:0003251	Male infertility
OMIM:612444	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:612444	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:612444	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:612444	CCDC114	93233	HP:0011108	Recurrent sinusitis
OMIM:612444	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:612444	CCDC114	93233	HP:0003251	Male infertility
OMIM:612444	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:612444	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:612444	NME8	51314	HP:0002110	Bronchiectasis
OMIM:612444	NME8	51314	HP:0011108	Recurrent sinusitis
OMIM:612444	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:612444	NME8	51314	HP:0003251	Male infertility
OMIM:612444	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:612444	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:612444	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:612444	CCDC40	55036	HP:0011108	Recurrent sinusitis
OMIM:612444	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:612444	CCDC40	55036	HP:0003251	Male infertility
OMIM:612444	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:612444	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:612444	DNAH11	8701	HP:0011108	Recurrent sinusitis
OMIM:612444	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:612444	DNAH11	8701	HP:0003251	Male infertility
OMIM:612444	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:612444	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:612444	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:612444	DNAI2	64446	HP:0011108	Recurrent sinusitis
OMIM:612444	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:612444	DNAI2	64446	HP:0003251	Male infertility
OMIM:612444	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:612444	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:612444	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:612444	GAS8	2622	HP:0011108	Recurrent sinusitis
OMIM:612444	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:612444	GAS8	2622	HP:0003251	Male infertility
OMIM:257200	SMPD1	6609	HP:0001508	Failure to thrive
OMIM:257200	SMPD1	6609	HP:0001257	Spasticity
OMIM:257200	SMPD1	6609	HP:0002716	Lymphadenopathy
OMIM:257200	SMPD1	6609	HP:0001538	Protuberant abdomen
OMIM:257200	SMPD1	6609	HP:0001265	Hyporeflexia
OMIM:257200	SMPD1	6609	HP:0002063	Rigidity
OMIM:257200	SMPD1	6609	HP:0003593	Infantile onset
OMIM:257200	SMPD1	6609	HP:0001324	Muscle weakness
OMIM:257200	SMPD1	6609	HP:0001249	Intellectual disability
OMIM:257200	SMPD1	6609	HP:0001263	Global developmental delay
OMIM:257200	SMPD1	6609	HP:0004322	Short stature
OMIM:257200	SMPD1	6609	HP:0002240	Hepatomegaly
OMIM:257200	SMPD1	6609	HP:0000007	Autosomal recessive inheritance
OMIM:257200	SMPD1	6609	HP:0000991	Xanthomatosis
OMIM:257200	SMPD1	6609	HP:0002205	Recurrent respiratory infections
OMIM:257200	SMPD1	6609	HP:0002019	Constipation
OMIM:257200	SMPD1	6609	HP:0001744	Splenomegaly
OMIM:257200	SMPD1	6609	HP:0002013	Vomiting
OMIM:257200	SMPD1	6609	HP:0001252	Muscular hypotonia
OMIM:257200	SMPD1	6609	HP:0008872	Feeding difficulties in infancy
OMIM:257200	SMPD1	6609	HP:0006579	Prolonged neonatal jaundice
OMIM:257200	SMPD1	6609	HP:0000939	Osteoporosis
OMIM:257200	SMPD1	6609	HP:0002305	Athetosis
OMIM:616342	CDK5	1020	HP:0001274	Agenesis of corpus callosum
OMIM:616342	CDK5	1020	HP:0000293	Full cheeks
OMIM:616342	CDK5	1020	HP:0001284	Areflexia
OMIM:616342	CDK5	1020	HP:0000252	Microcephaly
OMIM:616342	CDK5	1020	HP:0000347	Micrognathia
OMIM:616342	CDK5	1020	HP:0000470	Short neck
OMIM:616342	CDK5	1020	HP:0001321	Cerebellar hypoplasia
OMIM:616342	CDK5	1020	HP:0001004	Lymphedema
OMIM:616342	CDK5	1020	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616342	CDK5	1020	HP:0001263	Global developmental delay
OMIM:616342	CDK5	1020	HP:0001007	Hirsutism
OMIM:616342	CDK5	1020	HP:0001339	Lissencephaly
OMIM:309585	HDAC8	55869	HP:0000664	Synophrys
OMIM:309585	HDAC8	55869	HP:0100603	Toxemia of pregnancy
OMIM:309585	HDAC8	55869	HP:0002167	Neurological speech impairment
OMIM:309585	HDAC8	55869	HP:0004279	Short palm
OMIM:309585	HDAC8	55869	HP:0001419	X-linked recessive inheritance
OMIM:309585	HDAC8	55869	HP:0000054	Micropenis
OMIM:309585	HDAC8	55869	HP:0001956	Truncal obesity
OMIM:309585	HDAC8	55869	HP:0100543	Cognitive impairment
OMIM:309585	HDAC8	55869	HP:0008736	Hypoplasia of penis
OMIM:309585	HDAC8	55869	HP:0001252	Muscular hypotonia
OMIM:309585	HDAC8	55869	HP:0001423	X-linked dominant inheritance
OMIM:309585	HDAC8	55869	HP:0200055	Small hand
OMIM:309585	HDAC8	55869	HP:0100830	Round ear
OMIM:309585	HDAC8	55869	HP:0001004	Lymphedema
OMIM:309585	HDAC8	55869	HP:0001249	Intellectual disability
OMIM:309585	HDAC8	55869	HP:0000252	Microcephaly
OMIM:309585	HDAC8	55869	HP:0000336	Prominent supraorbital ridges
OMIM:309585	HDAC8	55869	HP:0000280	Coarse facial features
OMIM:309585	HDAC8	55869	HP:0001065	Striae distensae
OMIM:309585	HDAC8	55869	HP:0001288	Gait disturbance
OMIM:309585	HDAC8	55869	HP:0001369	Arthritis
OMIM:309585	HDAC8	55869	HP:0001182	Tapered finger
OMIM:309585	HDAC8	55869	HP:0000307	Pointed chin
OMIM:309585	HDAC8	55869	HP:0000232	Everted lower lip vermilion
OMIM:309585	HDAC8	55869	HP:0001537	Umbilical hernia
OMIM:309585	HDAC8	55869	HP:0000692	Misalignment of teeth
OMIM:309585	HDAC8	55869	HP:0002648	Abnormality of calvarial morphology
OMIM:309585	HDAC8	55869	HP:0000135	Hypogonadism
OMIM:309585	HDAC8	55869	HP:0000455	Broad nasal tip
OMIM:309585	HDAC8	55869	HP:0000028	Cryptorchidism
OMIM:309585	HDAC8	55869	HP:0000384	Preauricular skin tag
OMIM:309585	HDAC8	55869	HP:0000303	Mandibular prognathia
OMIM:309585	HDAC8	55869	HP:0001608	Abnormality of the voice
OMIM:309585	HDAC8	55869	HP:0000278	Retrognathia
OMIM:309585	HDAC8	55869	HP:0002311	Incoordination
OMIM:309585	HDAC8	55869	HP:0009804	Reduced number of teeth
OMIM:309585	HDAC8	55869	HP:0001513	Obesity
OMIM:309585	HDAC8	55869	HP:0001250	Seizures
OMIM:309585	HDAC8	55869	HP:0000160	Narrow mouth
OMIM:309585	HDAC8	55869	HP:0002808	Kyphosis
OMIM:309585	HDAC8	55869	HP:0000490	Deeply set eye
OMIM:309585	HDAC8	55869	HP:0000712	Emotional lability
OMIM:309585	HDAC8	55869	HP:0000750	Delayed speech and language development
OMIM:309585	HDAC8	55869	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:309585	HDAC8	55869	HP:0004322	Short stature
OMIM:309585	HDAC8	55869	HP:0002650	Scoliosis
OMIM:309585	HDAC8	55869	HP:0009748	Large earlobe
OMIM:309585	HDAC8	55869	HP:0000248	Brachycephaly
OMIM:309585	HDAC8	55869	HP:0000574	Thick eyebrow
OMIM:309585	HDAC8	55869	HP:0000400	Macrotia
OMIM:309585	HDAC8	55869	HP:0001773	Short foot
OMIM:309585	HDAC8	55869	HP:0008734	Decreased testicular size
OMIM:551500	ATP6	4508	HP:0003701	Proximal muscle weakness
OMIM:551500	ATP6	4508	HP:0001427	Mitochondrial inheritance
OMIM:551500	ATP6	4508	HP:0000726	Dementia
OMIM:551500	ATP6	4508	HP:0000510	Rod-cone dystrophy
OMIM:551500	ATP6	4508	HP:0003198	Myopathy
OMIM:551500	ATP6	4508	HP:0001251	Ataxia
OMIM:551500	ATP6	4508	HP:0000639	Nystagmus
OMIM:551500	ATP6	4508	HP:0000763	Sensory neuropathy
OMIM:551500	ATP6	4508	HP:0001250	Seizures
OMIM:551500	ATP6	4508	HP:0001263	Global developmental delay
OMIM:551500	ATP6	4508	HP:0000618	Blindness
OMIM:225753	TSEN54	283989	HP:0001561	Polyhydramnios
OMIM:225753	TSEN54	283989	HP:0001250	Seizures
OMIM:225753	TSEN54	283989	HP:0002171	Gliosis
OMIM:225753	TSEN54	283989	HP:0001522	Death in infancy
OMIM:225753	TSEN54	283989	HP:0001257	Spasticity
OMIM:225753	TSEN54	283989	HP:0001336	Myoclonus
OMIM:225753	TSEN54	283989	HP:0012110	Hypoplasia of the pons
OMIM:225753	TSEN54	283989	HP:0011344	Severe global developmental delay
OMIM:225753	TSEN54	283989	HP:0002803	Congenital contracture
OMIM:225753	TSEN54	283989	HP:0002365	Hypoplasia of the brainstem
OMIM:225753	TSEN54	283989	HP:0003577	Congenital onset
OMIM:225753	TSEN54	283989	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225753	TSEN54	283989	HP:0000007	Autosomal recessive inheritance
OMIM:225753	TSEN54	283989	HP:0000252	Microcephaly
OMIM:225753	TSEN54	283989	HP:0001321	Cerebellar hypoplasia
OMIM:225753	TSEN54	283989	HP:0007105	Infantile encephalopathy
OMIM:124500	GJB2	2706	HP:0000175	Cleft palate
OMIM:124500	GJB2	2706	HP:0001596	Alopecia
OMIM:124500	GJB2	2706	HP:0008064	Ichthyosis
OMIM:124500	GJB2	2706	HP:0007460	Autoamputation of digits
OMIM:124500	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:124500	GJB2	2706	HP:0002797	Osteolysis
OMIM:124500	GJB2	2706	HP:0100716	Self-injurious behavior
OMIM:124500	GJB2	2706	HP:0000078	Abnormality of the genital system
OMIM:124500	GJB2	2706	HP:0008388	Abnormality of the toenails
OMIM:124500	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:124500	GJB2	2706	HP:0100543	Cognitive impairment
OMIM:175900	FDPS	2224	HP:0008404	Nail dystrophy
OMIM:175900	FDPS	2224	HP:0000006	Autosomal dominant inheritance
OMIM:175900	MVD	4597	HP:0008404	Nail dystrophy
OMIM:175900	MVD	4597	HP:0000006	Autosomal dominant inheritance
OMIM:175900	MVK	4598	HP:0008404	Nail dystrophy
OMIM:175900	MVK	4598	HP:0000006	Autosomal dominant inheritance
OMIM:175900	SLC17A9	63910	HP:0008404	Nail dystrophy
OMIM:175900	SLC17A9	63910	HP:0000006	Autosomal dominant inheritance
OMIM:175900	PMVK	10654	HP:0008404	Nail dystrophy
OMIM:175900	PMVK	10654	HP:0000006	Autosomal dominant inheritance
OMIM:613675	NF1	4763	HP:0000957	Cafe-au-lait spot
OMIM:613675	NF1	4763	HP:0000365	Hearing impairment
OMIM:613675	NF1	4763	HP:0100697	Neurofibrosarcoma
OMIM:613675	NF1	4763	HP:0001382	Joint hypermobility
OMIM:613675	NF1	4763	HP:0001252	Muscular hypotonia
OMIM:613675	NF1	4763	HP:0000324	Facial asymmetry
OMIM:613675	NF1	4763	HP:0002650	Scoliosis
OMIM:613675	NF1	4763	HP:0001761	Pes cavus
OMIM:613675	NF1	4763	HP:0000256	Macrocephaly
OMIM:613675	NF1	4763	HP:0000316	Hypertelorism
OMIM:613675	NF1	4763	HP:0001250	Seizures
OMIM:613675	NF1	4763	HP:0100543	Cognitive impairment
OMIM:613675	NF1	4763	HP:0001249	Intellectual disability
OMIM:613675	NF1	4763	HP:0000369	Low-set ears
OMIM:613675	NF1	4763	HP:0001833	Long foot
OMIM:613675	NF1	4763	HP:0001328	Specific learning disability
OMIM:613675	NF1	4763	HP:0000053	Macroorchidism
OMIM:613675	NF1	4763	HP:0007018	Attention deficit hyperactivity disorder
OMIM:613675	NF1	4763	HP:0000276	Long face
OMIM:613675	NF1	4763	HP:0000252	Microcephaly
OMIM:613675	NF1	4763	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:613675	NF1	4763	HP:0000429	Abnormality of the nasal alae
OMIM:613675	NF1	4763	HP:0000499	Abnormality of the eyelashes
OMIM:613675	NF1	4763	HP:0001548	Overgrowth
OMIM:613675	NF1	4763	HP:0000006	Autosomal dominant inheritance
OMIM:613675	NF1	4763	HP:0002167	Neurological speech impairment
OMIM:613675	NF1	4763	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613675	NF1	4763	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:613675	NF1	4763	HP:0001596	Alopecia
OMIM:613675	NF1	4763	HP:0000233	Thin vermilion border
OMIM:613675	NF1	4763	HP:0004122	Midline defect of the nose
OMIM:613675	NF1	4763	HP:0000098	Tall stature
OMIM:613675	NF1	4763	HP:0000767	Pectus excavatum
OMIM:613675	NF1	4763	HP:0001263	Global developmental delay
OMIM:613675	NF1	4763	HP:0000682	Abnormality of dental enamel
OMIM:613675	NF1	4763	HP:0000486	Strabismus
OMIM:613675	NF1	4763	HP:0003745	Sporadic
OMIM:613675	NF1	4763	HP:0002916	Abnormality of chromosome segregation
OMIM:613675	NF1	4763	HP:0004322	Short stature
OMIM:613675	NF1	4763	HP:0001176	Large hands
OMIM:613675	NF1	4763	HP:0000750	Delayed speech and language development
OMIM:613675	NF1	4763	HP:0000280	Coarse facial features
OMIM:163200	HRAS	3265	HP:0003745	Sporadic
OMIM:163200	HRAS	3265	HP:0001305	Dandy-Walker malformation
OMIM:163200	HRAS	3265	HP:0011362	Abnormal hair quantity
OMIM:163200	HRAS	3265	HP:0002353	EEG abnormality
OMIM:163200	HRAS	3265	HP:0001249	Intellectual disability
OMIM:163200	HRAS	3265	HP:0001167	Abnormality of finger
OMIM:163200	HRAS	3265	HP:0002816	Genu recurvatum
OMIM:163200	HRAS	3265	HP:0007957	Corneal opacity
OMIM:163200	HRAS	3265	HP:0001250	Seizures
OMIM:163200	HRAS	3265	HP:0001357	Plagiocephaly
OMIM:163200	HRAS	3265	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:163200	HRAS	3265	HP:0001252	Muscular hypotonia
OMIM:163200	HRAS	3265	HP:0003422	Vertebral segmentation defect
OMIM:163200	HRAS	3265	HP:0000612	Iris coloboma
OMIM:163200	HRAS	3265	HP:0000506	Telecanthus
OMIM:163200	HRAS	3265	HP:0001442	Somatic mosaicism
OMIM:163200	HRAS	3265	HP:0002514	Cerebral calcification
OMIM:163200	HRAS	3265	HP:0001780	Abnormality of toe
OMIM:163200	HRAS	3265	HP:0100555	Asymmetric growth
OMIM:163200	HRAS	3265	HP:0001010	Hypopigmentation of the skin
OMIM:163200	HRAS	3265	HP:0002007	Frontal bossing
OMIM:163200	HRAS	3265	HP:0100543	Cognitive impairment
OMIM:163200	HRAS	3265	HP:0000269	Prominent occiput
OMIM:163200	HRAS	3265	HP:0000826	Precocious puberty
OMIM:163200	HRAS	3265	HP:0000602	Ophthalmoplegia
OMIM:163200	HRAS	3265	HP:0001028	Hemangioma
OMIM:163200	HRAS	3265	HP:0001548	Overgrowth
OMIM:163200	HRAS	3265	HP:0001596	Alopecia
OMIM:163200	HRAS	3265	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:163200	HRAS	3265	HP:0000085	Horseshoe kidney
OMIM:163200	HRAS	3265	HP:0001315	Reduced tendon reflexes
OMIM:163200	HRAS	3265	HP:0002132	Porencephaly
OMIM:163200	HRAS	3265	HP:0000589	Coloboma
OMIM:163200	HRAS	3265	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:163200	HRAS	3265	HP:0006482	Abnormality of dental morphology
OMIM:163200	HRAS	3265	HP:0002751	Kyphoscoliosis
OMIM:163200	HRAS	3265	HP:0002757	Recurrent fractures
OMIM:163200	HRAS	3265	HP:0008064	Ichthyosis
OMIM:163200	HRAS	3265	HP:0000324	Facial asymmetry
OMIM:163200	HRAS	3265	HP:0000995	Melanocytic nevus
OMIM:163200	HRAS	3265	HP:0004322	Short stature
OMIM:163200	HRAS	3265	HP:0000938	Osteopenia
OMIM:163200	HRAS	3265	HP:0001347	Hyperreflexia
OMIM:163200	HRAS	3265	HP:0001680	Coarctation of aorta
OMIM:163200	HRAS	3265	HP:0007400	Irregular hyperpigmentation
OMIM:163200	HRAS	3265	HP:0000341	Narrow forehead
OMIM:163200	KRAS	3845	HP:0003745	Sporadic
OMIM:163200	KRAS	3845	HP:0001305	Dandy-Walker malformation
OMIM:163200	KRAS	3845	HP:0011362	Abnormal hair quantity
OMIM:163200	KRAS	3845	HP:0002353	EEG abnormality
OMIM:163200	KRAS	3845	HP:0001249	Intellectual disability
OMIM:163200	KRAS	3845	HP:0001167	Abnormality of finger
OMIM:163200	KRAS	3845	HP:0002816	Genu recurvatum
OMIM:163200	KRAS	3845	HP:0007957	Corneal opacity
OMIM:163200	KRAS	3845	HP:0001250	Seizures
OMIM:163200	KRAS	3845	HP:0001357	Plagiocephaly
OMIM:163200	KRAS	3845	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:163200	KRAS	3845	HP:0001252	Muscular hypotonia
OMIM:163200	KRAS	3845	HP:0003422	Vertebral segmentation defect
OMIM:163200	KRAS	3845	HP:0000612	Iris coloboma
OMIM:163200	KRAS	3845	HP:0000506	Telecanthus
OMIM:163200	KRAS	3845	HP:0001442	Somatic mosaicism
OMIM:163200	KRAS	3845	HP:0002514	Cerebral calcification
OMIM:163200	KRAS	3845	HP:0001780	Abnormality of toe
OMIM:163200	KRAS	3845	HP:0100555	Asymmetric growth
OMIM:163200	KRAS	3845	HP:0001010	Hypopigmentation of the skin
OMIM:163200	KRAS	3845	HP:0002007	Frontal bossing
OMIM:163200	KRAS	3845	HP:0100543	Cognitive impairment
OMIM:163200	KRAS	3845	HP:0000269	Prominent occiput
OMIM:163200	KRAS	3845	HP:0000826	Precocious puberty
OMIM:163200	KRAS	3845	HP:0000602	Ophthalmoplegia
OMIM:163200	KRAS	3845	HP:0001028	Hemangioma
OMIM:163200	KRAS	3845	HP:0001548	Overgrowth
OMIM:163200	KRAS	3845	HP:0001596	Alopecia
OMIM:163200	KRAS	3845	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:163200	KRAS	3845	HP:0000085	Horseshoe kidney
OMIM:163200	KRAS	3845	HP:0001315	Reduced tendon reflexes
OMIM:163200	KRAS	3845	HP:0002132	Porencephaly
OMIM:163200	KRAS	3845	HP:0000589	Coloboma
OMIM:163200	KRAS	3845	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:163200	KRAS	3845	HP:0006482	Abnormality of dental morphology
OMIM:163200	KRAS	3845	HP:0002751	Kyphoscoliosis
OMIM:163200	KRAS	3845	HP:0002757	Recurrent fractures
OMIM:163200	KRAS	3845	HP:0008064	Ichthyosis
OMIM:163200	KRAS	3845	HP:0000324	Facial asymmetry
OMIM:163200	KRAS	3845	HP:0000995	Melanocytic nevus
OMIM:163200	KRAS	3845	HP:0004322	Short stature
OMIM:163200	KRAS	3845	HP:0000938	Osteopenia
OMIM:163200	KRAS	3845	HP:0001347	Hyperreflexia
OMIM:163200	KRAS	3845	HP:0001680	Coarctation of aorta
OMIM:163200	KRAS	3845	HP:0007400	Irregular hyperpigmentation
OMIM:163200	KRAS	3845	HP:0000341	Narrow forehead
OMIM:163200	NRAS	4893	HP:0003745	Sporadic
OMIM:163200	NRAS	4893	HP:0001305	Dandy-Walker malformation
OMIM:163200	NRAS	4893	HP:0011362	Abnormal hair quantity
OMIM:163200	NRAS	4893	HP:0002353	EEG abnormality
OMIM:163200	NRAS	4893	HP:0001249	Intellectual disability
OMIM:163200	NRAS	4893	HP:0001167	Abnormality of finger
OMIM:163200	NRAS	4893	HP:0002816	Genu recurvatum
OMIM:163200	NRAS	4893	HP:0007957	Corneal opacity
OMIM:163200	NRAS	4893	HP:0001250	Seizures
OMIM:163200	NRAS	4893	HP:0001357	Plagiocephaly
OMIM:163200	NRAS	4893	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:163200	NRAS	4893	HP:0001252	Muscular hypotonia
OMIM:163200	NRAS	4893	HP:0003422	Vertebral segmentation defect
OMIM:163200	NRAS	4893	HP:0000612	Iris coloboma
OMIM:163200	NRAS	4893	HP:0000506	Telecanthus
OMIM:163200	NRAS	4893	HP:0001442	Somatic mosaicism
OMIM:163200	NRAS	4893	HP:0002514	Cerebral calcification
OMIM:163200	NRAS	4893	HP:0001780	Abnormality of toe
OMIM:163200	NRAS	4893	HP:0100555	Asymmetric growth
OMIM:163200	NRAS	4893	HP:0001010	Hypopigmentation of the skin
OMIM:163200	NRAS	4893	HP:0002007	Frontal bossing
OMIM:163200	NRAS	4893	HP:0100543	Cognitive impairment
OMIM:163200	NRAS	4893	HP:0000269	Prominent occiput
OMIM:163200	NRAS	4893	HP:0000826	Precocious puberty
OMIM:163200	NRAS	4893	HP:0000602	Ophthalmoplegia
OMIM:163200	NRAS	4893	HP:0001028	Hemangioma
OMIM:163200	NRAS	4893	HP:0001548	Overgrowth
OMIM:163200	NRAS	4893	HP:0001596	Alopecia
OMIM:163200	NRAS	4893	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:163200	NRAS	4893	HP:0000085	Horseshoe kidney
OMIM:163200	NRAS	4893	HP:0001315	Reduced tendon reflexes
OMIM:163200	NRAS	4893	HP:0002132	Porencephaly
OMIM:163200	NRAS	4893	HP:0000589	Coloboma
OMIM:163200	NRAS	4893	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:163200	NRAS	4893	HP:0006482	Abnormality of dental morphology
OMIM:163200	NRAS	4893	HP:0002751	Kyphoscoliosis
OMIM:163200	NRAS	4893	HP:0002757	Recurrent fractures
OMIM:163200	NRAS	4893	HP:0008064	Ichthyosis
OMIM:163200	NRAS	4893	HP:0000324	Facial asymmetry
OMIM:163200	NRAS	4893	HP:0000995	Melanocytic nevus
OMIM:163200	NRAS	4893	HP:0004322	Short stature
OMIM:163200	NRAS	4893	HP:0000938	Osteopenia
OMIM:163200	NRAS	4893	HP:0001347	Hyperreflexia
OMIM:163200	NRAS	4893	HP:0001680	Coarctation of aorta
OMIM:163200	NRAS	4893	HP:0007400	Irregular hyperpigmentation
OMIM:163200	NRAS	4893	HP:0000341	Narrow forehead
OMIM:177200	SCNN1B	6338	HP:0002019	Constipation
OMIM:177200	SCNN1B	6338	HP:0011675	Arrhythmia
OMIM:177200	SCNN1B	6338	HP:0000822	Hypertension
OMIM:177200	SCNN1B	6338	HP:0000083	Renal insufficiency
OMIM:177200	SCNN1B	6338	HP:0002637	Cerebral ischemia
OMIM:177200	SCNN1B	6338	HP:0000112	Nephropathy
OMIM:177200	SCNN1B	6338	HP:0000006	Autosomal dominant inheritance
OMIM:177200	SCNN1B	6338	HP:0001324	Muscle weakness
OMIM:177200	SCNN1G	6340	HP:0002019	Constipation
OMIM:177200	SCNN1G	6340	HP:0011675	Arrhythmia
OMIM:177200	SCNN1G	6340	HP:0000822	Hypertension
OMIM:177200	SCNN1G	6340	HP:0000083	Renal insufficiency
OMIM:177200	SCNN1G	6340	HP:0002637	Cerebral ischemia
OMIM:177200	SCNN1G	6340	HP:0000112	Nephropathy
OMIM:177200	SCNN1G	6340	HP:0000006	Autosomal dominant inheritance
OMIM:177200	SCNN1G	6340	HP:0001324	Muscle weakness
OMIM:602668	CNBP	7555	HP:0000135	Hypogonadism
OMIM:602668	CNBP	7555	HP:0003701	Proximal muscle weakness
OMIM:602668	CNBP	7555	HP:0003326	Myalgia
OMIM:602668	CNBP	7555	HP:0000518	Cataract
OMIM:602668	CNBP	7555	HP:0004315	IgG deficiency
OMIM:602668	CNBP	7555	HP:0001649	Tachycardia
OMIM:602668	CNBP	7555	HP:0001962	Palpitations
OMIM:602668	CNBP	7555	HP:0003236	Elevated serum creatine phosphokinase
OMIM:602668	CNBP	7555	HP:0000006	Autosomal dominant inheritance
OMIM:602668	CNBP	7555	HP:0000819	Diabetes mellitus
OMIM:605055	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:605055	PSEN2	5664	HP:0001250	Seizures
OMIM:605055	SORL1	6653	HP:0000006	Autosomal dominant inheritance
OMIM:605055	SORL1	6653	HP:0001250	Seizures
OMIM:605055	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:605055	PSEN1	5663	HP:0001250	Seizures
OMIM:605055	APP	351	HP:0000006	Autosomal dominant inheritance
OMIM:605055	APP	351	HP:0001250	Seizures
OMIM:600791	MSRB3	253827	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	MSRB3	253827	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:600791	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:600791	BSND	7809	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	BSND	7809	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:600791	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:600791	ESPN	83715	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	ESPN	83715	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:600791	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:600791	DFNB31	25861	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	DFNB31	25861	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:600791	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:600791	OTOA	146183	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	OTOA	146183	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:600791	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:600791	GJA1	2697	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	GJA1	2697	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:600791	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:600791	MET	4233	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	MET	4233	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:600791	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:600791	CLDN14	23562	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	CLDN14	23562	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:600791	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:600791	HGF	3082	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	HGF	3082	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:600791	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:600791	PNPT1	87178	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	PNPT1	87178	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:600791	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:600791	EPS8	2059	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	EPS8	2059	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:600791	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:600791	MYO3A	53904	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	MYO3A	53904	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:600791	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:600791	DCDC2	51473	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	DCDC2	51473	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:600791	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:600791	GJB2	2706	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	GJB2	2706	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:600791	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:600791	GJB3	2707	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	GJB3	2707	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:600791	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:600791	CABP2	51475	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	CABP2	51475	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:600791	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:600791	GRXCR2	643226	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	GRXCR2	643226	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:600791	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:600791	SERPINB6	5269	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	SERPINB6	5269	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:600791	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:600791	COL11A2	1302	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	COL11A2	1302	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:600791	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:600791	CIB2	10518	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	CIB2	10518	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:600791	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:600791	FAM65B	9750	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	FAM65B	9750	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:600791	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:600791	KARS	3735	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	KARS	3735	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:600791	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:600791	LOXHD1	125336	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	LOXHD1	125336	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:600791	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:600791	TMC1	117531	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	TMC1	117531	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:600791	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:600791	CLIC5	53405	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	CLIC5	53405	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:600791	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:600791	OTOF	9381	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	OTOF	9381	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:600791	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:600791	MYO6	4646	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	MYO6	4646	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:600791	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:600791	TMIE	259236	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	TMIE	259236	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:600791	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:600791	MYO7A	4647	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	MYO7A	4647	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:600791	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:600791	LRTOMT	220074	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	LRTOMT	220074	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:600791	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:600791	OTOGL	283310	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	OTOGL	283310	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:600791	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:600791	TPRN	286262	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	TPRN	286262	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:600791	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:600791	SLC26A4	5172	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	SLC26A4	5172	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:600791	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:600791	GJB6	10804	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	GJB6	10804	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:600791	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:600791	KCNJ10	3766	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	KCNJ10	3766	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	KCNJ10	3766	HP:0000407	Sensorineural hearing impairment
OMIM:600791	KCNJ10	3766	HP:0000007	Autosomal recessive inheritance
OMIM:600791	DFNB59	494513	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	DFNB59	494513	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:600791	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:600791	ESRRB	2103	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	ESRRB	2103	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:600791	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:600791	TMPRSS3	64699	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	TMPRSS3	64699	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:600791	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:600791	PTPRQ	374462	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	PTPRQ	374462	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:600791	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:600791	SLC26A5	375611	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	SLC26A5	375611	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:600791	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:600791	PCDH15	65217	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	PCDH15	65217	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:600791	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:600791	TSPEAR	54084	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	TSPEAR	54084	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:600791	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:600791	LHFPL5	222662	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	LHFPL5	222662	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:600791	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:600791	TRIOBP	11078	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	TRIOBP	11078	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:600791	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:600791	CDH23	64072	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	CDH23	64072	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:600791	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:600791	RDX	5962	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	RDX	5962	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:600791	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:600791	GPSM2	29899	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	GPSM2	29899	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:600791	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:600791	ELMOD3	84173	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	ELMOD3	84173	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:600791	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:600791	ILDR1	286676	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	ILDR1	286676	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:600791	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:600791	GRXCR1	389207	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	GRXCR1	389207	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:600791	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:600791	MARVELD2	153562	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	MARVELD2	153562	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:600791	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:600791	STRC	161497	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	STRC	161497	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:600791	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:600791	SLITRK6	84189	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	SLITRK6	84189	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:600791	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:600791	TECTA	7007	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	TECTA	7007	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:600791	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:600791	MYO15A	51168	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	MYO15A	51168	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:600791	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:600791	USH1C	10083	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	USH1C	10083	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:600791	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:600791	ADCY1	107	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	ADCY1	107	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:600791	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:600791	SYNE4	163183	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	SYNE4	163183	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:600791	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:600791	GIPC3	126326	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	GIPC3	126326	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:600791	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:600791	TBC1D24	57465	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	TBC1D24	57465	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:600791	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:600791	FOXI1	2299	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	FOXI1	2299	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	FOXI1	2299	HP:0000407	Sensorineural hearing impairment
OMIM:600791	FOXI1	2299	HP:0000007	Autosomal recessive inheritance
OMIM:600791	OTOG	340990	HP:0000376	Incomplete partition of the cochlea type II
OMIM:600791	OTOG	340990	HP:0011387	Enlarged vestibular aqueduct
OMIM:600791	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:600791	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:608443	METTL23	124512	HP:0003621	Juvenile onset
OMIM:608443	METTL23	124512	HP:0000736	Short attention span
OMIM:608443	METTL23	124512	HP:0000752	Hyperactivity
OMIM:608443	METTL23	124512	HP:0006887	Intellectual disability, progressive
OMIM:608443	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:608443	METTL23	124512	HP:0001263	Global developmental delay
OMIM:608443	METTL23	124512	HP:0010864	Intellectual disability, severe
OMIM:608443	METTL23	124512	HP:0002546	Incomprehensible speech
OMIM:608443	METTL23	124512	HP:0000338	Hypomimic face
OMIM:608443	CRADD	8738	HP:0003621	Juvenile onset
OMIM:608443	CRADD	8738	HP:0000736	Short attention span
OMIM:608443	CRADD	8738	HP:0000752	Hyperactivity
OMIM:608443	CRADD	8738	HP:0006887	Intellectual disability, progressive
OMIM:608443	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:608443	CRADD	8738	HP:0001263	Global developmental delay
OMIM:608443	CRADD	8738	HP:0010864	Intellectual disability, severe
OMIM:608443	CRADD	8738	HP:0002546	Incomprehensible speech
OMIM:608443	CRADD	8738	HP:0000338	Hypomimic face
OMIM:608443	NSUN2	54888	HP:0003621	Juvenile onset
OMIM:608443	NSUN2	54888	HP:0000736	Short attention span
OMIM:608443	NSUN2	54888	HP:0000752	Hyperactivity
OMIM:608443	NSUN2	54888	HP:0006887	Intellectual disability, progressive
OMIM:608443	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:608443	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:608443	NSUN2	54888	HP:0010864	Intellectual disability, severe
OMIM:608443	NSUN2	54888	HP:0002546	Incomprehensible speech
OMIM:608443	NSUN2	54888	HP:0000338	Hypomimic face
OMIM:608443	FMN2	56776	HP:0003621	Juvenile onset
OMIM:608443	FMN2	56776	HP:0000736	Short attention span
OMIM:608443	FMN2	56776	HP:0000752	Hyperactivity
OMIM:608443	FMN2	56776	HP:0006887	Intellectual disability, progressive
OMIM:608443	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:608443	FMN2	56776	HP:0001263	Global developmental delay
OMIM:608443	FMN2	56776	HP:0010864	Intellectual disability, severe
OMIM:608443	FMN2	56776	HP:0002546	Incomprehensible speech
OMIM:608443	FMN2	56776	HP:0000338	Hypomimic face
OMIM:608443	CLIP1	6249	HP:0003621	Juvenile onset
OMIM:608443	CLIP1	6249	HP:0000736	Short attention span
OMIM:608443	CLIP1	6249	HP:0000752	Hyperactivity
OMIM:608443	CLIP1	6249	HP:0006887	Intellectual disability, progressive
OMIM:608443	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:608443	CLIP1	6249	HP:0001263	Global developmental delay
OMIM:608443	CLIP1	6249	HP:0010864	Intellectual disability, severe
OMIM:608443	CLIP1	6249	HP:0002546	Incomprehensible speech
OMIM:608443	CLIP1	6249	HP:0000338	Hypomimic face
OMIM:608443	ZC3H14	79882	HP:0003621	Juvenile onset
OMIM:608443	ZC3H14	79882	HP:0000736	Short attention span
OMIM:608443	ZC3H14	79882	HP:0000752	Hyperactivity
OMIM:608443	ZC3H14	79882	HP:0006887	Intellectual disability, progressive
OMIM:608443	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:608443	ZC3H14	79882	HP:0001263	Global developmental delay
OMIM:608443	ZC3H14	79882	HP:0010864	Intellectual disability, severe
OMIM:608443	ZC3H14	79882	HP:0002546	Incomprehensible speech
OMIM:608443	ZC3H14	79882	HP:0000338	Hypomimic face
OMIM:608443	PRSS12	8492	HP:0003621	Juvenile onset
OMIM:608443	PRSS12	8492	HP:0000736	Short attention span
OMIM:608443	PRSS12	8492	HP:0000752	Hyperactivity
OMIM:608443	PRSS12	8492	HP:0006887	Intellectual disability, progressive
OMIM:608443	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:608443	PRSS12	8492	HP:0001263	Global developmental delay
OMIM:608443	PRSS12	8492	HP:0010864	Intellectual disability, severe
OMIM:608443	PRSS12	8492	HP:0002546	Incomprehensible speech
OMIM:608443	PRSS12	8492	HP:0000338	Hypomimic face
OMIM:608443	LINS1	55180	HP:0003621	Juvenile onset
OMIM:608443	LINS1	55180	HP:0000736	Short attention span
OMIM:608443	LINS1	55180	HP:0000752	Hyperactivity
OMIM:608443	LINS1	55180	HP:0006887	Intellectual disability, progressive
OMIM:608443	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:608443	LINS1	55180	HP:0001263	Global developmental delay
OMIM:608443	LINS1	55180	HP:0010864	Intellectual disability, severe
OMIM:608443	LINS1	55180	HP:0002546	Incomprehensible speech
OMIM:608443	LINS1	55180	HP:0000338	Hypomimic face
OMIM:608443	NDST1	3340	HP:0003621	Juvenile onset
OMIM:608443	NDST1	3340	HP:0000736	Short attention span
OMIM:608443	NDST1	3340	HP:0000752	Hyperactivity
OMIM:608443	NDST1	3340	HP:0006887	Intellectual disability, progressive
OMIM:608443	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:608443	NDST1	3340	HP:0001263	Global developmental delay
OMIM:608443	NDST1	3340	HP:0010864	Intellectual disability, severe
OMIM:608443	NDST1	3340	HP:0002546	Incomprehensible speech
OMIM:608443	NDST1	3340	HP:0000338	Hypomimic face
OMIM:608443	CC2D1A	54862	HP:0003621	Juvenile onset
OMIM:608443	CC2D1A	54862	HP:0000736	Short attention span
OMIM:608443	CC2D1A	54862	HP:0000752	Hyperactivity
OMIM:608443	CC2D1A	54862	HP:0006887	Intellectual disability, progressive
OMIM:608443	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:608443	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:608443	CC2D1A	54862	HP:0010864	Intellectual disability, severe
OMIM:608443	CC2D1A	54862	HP:0002546	Incomprehensible speech
OMIM:608443	CC2D1A	54862	HP:0000338	Hypomimic face
OMIM:608443	FBXO31	79791	HP:0003621	Juvenile onset
OMIM:608443	FBXO31	79791	HP:0000736	Short attention span
OMIM:608443	FBXO31	79791	HP:0000752	Hyperactivity
OMIM:608443	FBXO31	79791	HP:0006887	Intellectual disability, progressive
OMIM:608443	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:608443	FBXO31	79791	HP:0001263	Global developmental delay
OMIM:608443	FBXO31	79791	HP:0010864	Intellectual disability, severe
OMIM:608443	FBXO31	79791	HP:0002546	Incomprehensible speech
OMIM:608443	FBXO31	79791	HP:0000338	Hypomimic face
OMIM:608443	CRBN	51185	HP:0003621	Juvenile onset
OMIM:608443	CRBN	51185	HP:0000736	Short attention span
OMIM:608443	CRBN	51185	HP:0000752	Hyperactivity
OMIM:608443	CRBN	51185	HP:0006887	Intellectual disability, progressive
OMIM:608443	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:608443	CRBN	51185	HP:0001263	Global developmental delay
OMIM:608443	CRBN	51185	HP:0010864	Intellectual disability, severe
OMIM:608443	CRBN	51185	HP:0002546	Incomprehensible speech
OMIM:608443	CRBN	51185	HP:0000338	Hypomimic face
OMIM:608443	TRAPPC9	83696	HP:0003621	Juvenile onset
OMIM:608443	TRAPPC9	83696	HP:0000736	Short attention span
OMIM:608443	TRAPPC9	83696	HP:0000752	Hyperactivity
OMIM:608443	TRAPPC9	83696	HP:0006887	Intellectual disability, progressive
OMIM:608443	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:608443	TRAPPC9	83696	HP:0001263	Global developmental delay
OMIM:608443	TRAPPC9	83696	HP:0010864	Intellectual disability, severe
OMIM:608443	TRAPPC9	83696	HP:0002546	Incomprehensible speech
OMIM:608443	TRAPPC9	83696	HP:0000338	Hypomimic face
OMIM:608443	GRIK2	2898	HP:0003621	Juvenile onset
OMIM:608443	GRIK2	2898	HP:0000736	Short attention span
OMIM:608443	GRIK2	2898	HP:0000752	Hyperactivity
OMIM:608443	GRIK2	2898	HP:0006887	Intellectual disability, progressive
OMIM:608443	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:608443	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:608443	GRIK2	2898	HP:0010864	Intellectual disability, severe
OMIM:608443	GRIK2	2898	HP:0002546	Incomprehensible speech
OMIM:608443	GRIK2	2898	HP:0000338	Hypomimic face
OMIM:608443	SLC6A17	388662	HP:0003621	Juvenile onset
OMIM:608443	SLC6A17	388662	HP:0000736	Short attention span
OMIM:608443	SLC6A17	388662	HP:0000752	Hyperactivity
OMIM:608443	SLC6A17	388662	HP:0006887	Intellectual disability, progressive
OMIM:608443	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:608443	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:608443	SLC6A17	388662	HP:0010864	Intellectual disability, severe
OMIM:608443	SLC6A17	388662	HP:0002546	Incomprehensible speech
OMIM:608443	SLC6A17	388662	HP:0000338	Hypomimic face
OMIM:608443	TECR	9524	HP:0003621	Juvenile onset
OMIM:608443	TECR	9524	HP:0000736	Short attention span
OMIM:608443	TECR	9524	HP:0000752	Hyperactivity
OMIM:608443	TECR	9524	HP:0006887	Intellectual disability, progressive
OMIM:608443	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:608443	TECR	9524	HP:0001263	Global developmental delay
OMIM:608443	TECR	9524	HP:0010864	Intellectual disability, severe
OMIM:608443	TECR	9524	HP:0002546	Incomprehensible speech
OMIM:608443	TECR	9524	HP:0000338	Hypomimic face
OMIM:608443	MAN1B1	11253	HP:0003621	Juvenile onset
OMIM:608443	MAN1B1	11253	HP:0000736	Short attention span
OMIM:608443	MAN1B1	11253	HP:0000752	Hyperactivity
OMIM:608443	MAN1B1	11253	HP:0006887	Intellectual disability, progressive
OMIM:608443	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:608443	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:608443	MAN1B1	11253	HP:0010864	Intellectual disability, severe
OMIM:608443	MAN1B1	11253	HP:0002546	Incomprehensible speech
OMIM:608443	MAN1B1	11253	HP:0000338	Hypomimic face
OMIM:608443	TUSC3	7991	HP:0003621	Juvenile onset
OMIM:608443	TUSC3	7991	HP:0000736	Short attention span
OMIM:608443	TUSC3	7991	HP:0000752	Hyperactivity
OMIM:608443	TUSC3	7991	HP:0006887	Intellectual disability, progressive
OMIM:608443	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:608443	TUSC3	7991	HP:0001263	Global developmental delay
OMIM:608443	TUSC3	7991	HP:0010864	Intellectual disability, severe
OMIM:608443	TUSC3	7991	HP:0002546	Incomprehensible speech
OMIM:608443	TUSC3	7991	HP:0000338	Hypomimic face
OMIM:608443	ST3GAL3	6487	HP:0003621	Juvenile onset
OMIM:608443	ST3GAL3	6487	HP:0000736	Short attention span
OMIM:608443	ST3GAL3	6487	HP:0000752	Hyperactivity
OMIM:608443	ST3GAL3	6487	HP:0006887	Intellectual disability, progressive
OMIM:608443	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:608443	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:608443	ST3GAL3	6487	HP:0010864	Intellectual disability, severe
OMIM:608443	ST3GAL3	6487	HP:0002546	Incomprehensible speech
OMIM:608443	ST3GAL3	6487	HP:0000338	Hypomimic face
OMIM:608443	EDC3	80153	HP:0003621	Juvenile onset
OMIM:608443	EDC3	80153	HP:0000736	Short attention span
OMIM:608443	EDC3	80153	HP:0000752	Hyperactivity
OMIM:608443	EDC3	80153	HP:0006887	Intellectual disability, progressive
OMIM:608443	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:608443	EDC3	80153	HP:0001263	Global developmental delay
OMIM:608443	EDC3	80153	HP:0010864	Intellectual disability, severe
OMIM:608443	EDC3	80153	HP:0002546	Incomprehensible speech
OMIM:608443	EDC3	80153	HP:0000338	Hypomimic face
OMIM:608443	MED13L	23389	HP:0003621	Juvenile onset
OMIM:608443	MED13L	23389	HP:0000736	Short attention span
OMIM:608443	MED13L	23389	HP:0000752	Hyperactivity
OMIM:608443	MED13L	23389	HP:0006887	Intellectual disability, progressive
OMIM:608443	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:608443	MED13L	23389	HP:0001263	Global developmental delay
OMIM:608443	MED13L	23389	HP:0010864	Intellectual disability, severe
OMIM:608443	MED13L	23389	HP:0002546	Incomprehensible speech
OMIM:608443	MED13L	23389	HP:0000338	Hypomimic face
OMIM:608443	KIAA1033	23325	HP:0003621	Juvenile onset
OMIM:608443	KIAA1033	23325	HP:0000736	Short attention span
OMIM:608443	KIAA1033	23325	HP:0000752	Hyperactivity
OMIM:608443	KIAA1033	23325	HP:0006887	Intellectual disability, progressive
OMIM:608443	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:608443	KIAA1033	23325	HP:0001263	Global developmental delay
OMIM:608443	KIAA1033	23325	HP:0010864	Intellectual disability, severe
OMIM:608443	KIAA1033	23325	HP:0002546	Incomprehensible speech
OMIM:608443	KIAA1033	23325	HP:0000338	Hypomimic face
OMIM:608443	MED23	9439	HP:0003621	Juvenile onset
OMIM:608443	MED23	9439	HP:0000736	Short attention span
OMIM:608443	MED23	9439	HP:0000752	Hyperactivity
OMIM:608443	MED23	9439	HP:0006887	Intellectual disability, progressive
OMIM:608443	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:608443	MED23	9439	HP:0001263	Global developmental delay
OMIM:608443	MED23	9439	HP:0010864	Intellectual disability, severe
OMIM:608443	MED23	9439	HP:0002546	Incomprehensible speech
OMIM:608443	MED23	9439	HP:0000338	Hypomimic face
OMIM:613150	B4GAT1	11041	HP:0000204	Cleft upper lip
OMIM:613150	B4GAT1	11041	HP:0000568	Microphthalmia
OMIM:613150	B4GAT1	11041	HP:0002350	Cerebellar cyst
OMIM:613150	B4GAT1	11041	HP:0007033	Cerebellar dysplasia
OMIM:613150	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:613150	B4GAT1	11041	HP:0001250	Seizures
OMIM:613150	B4GAT1	11041	HP:0009917	Persistent pupillary membrane
OMIM:613150	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:613150	B4GAT1	11041	HP:0000518	Cataract
OMIM:613150	B4GAT1	11041	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	B4GAT1	11041	HP:0000252	Microcephaly
OMIM:613150	B4GAT1	11041	HP:0001425	Heterogeneous
OMIM:613150	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:613150	B4GAT1	11041	HP:0000540	Hypermetropia
OMIM:613150	B4GAT1	11041	HP:0000158	Macroglossia
OMIM:613150	B4GAT1	11041	HP:0002126	Polymicrogyria
OMIM:613150	B4GAT1	11041	HP:0001302	Pachygyria
OMIM:613150	B4GAT1	11041	HP:0010864	Intellectual disability, severe
OMIM:613150	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:613150	B4GAT1	11041	HP:0002803	Congenital contracture
OMIM:613150	B4GAT1	11041	HP:0000175	Cleft palate
OMIM:613150	B4GAT1	11041	HP:0000545	Myopia
OMIM:613150	B4GAT1	11041	HP:0003306	Spinal rigidity
OMIM:613150	B4GAT1	11041	HP:0000557	Buphthalmos
OMIM:613150	B4GAT1	11041	HP:0003812	Phenotypic variability
OMIM:613150	B4GAT1	11041	HP:0002187	Intellectual disability, profound
OMIM:613150	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	B4GAT1	11041	HP:0002119	Ventriculomegaly
OMIM:613150	B4GAT1	11041	HP:0002084	Encephalocele
OMIM:613150	B4GAT1	11041	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	B4GAT1	11041	HP:0000659	Peters anomaly
OMIM:613150	B4GAT1	11041	HP:0002650	Scoliosis
OMIM:613150	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
OMIM:613150	B4GAT1	11041	HP:0006829	Severe muscular hypotonia
OMIM:613150	POMT2	29954	HP:0000204	Cleft upper lip
OMIM:613150	POMT2	29954	HP:0000568	Microphthalmia
OMIM:613150	POMT2	29954	HP:0002350	Cerebellar cyst
OMIM:613150	POMT2	29954	HP:0007033	Cerebellar dysplasia
OMIM:613150	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:613150	POMT2	29954	HP:0001250	Seizures
OMIM:613150	POMT2	29954	HP:0009917	Persistent pupillary membrane
OMIM:613150	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:613150	POMT2	29954	HP:0000518	Cataract
OMIM:613150	POMT2	29954	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	POMT2	29954	HP:0000252	Microcephaly
OMIM:613150	POMT2	29954	HP:0001425	Heterogeneous
OMIM:613150	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:613150	POMT2	29954	HP:0000540	Hypermetropia
OMIM:613150	POMT2	29954	HP:0000158	Macroglossia
OMIM:613150	POMT2	29954	HP:0002126	Polymicrogyria
OMIM:613150	POMT2	29954	HP:0001302	Pachygyria
OMIM:613150	POMT2	29954	HP:0010864	Intellectual disability, severe
OMIM:613150	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:613150	POMT2	29954	HP:0002803	Congenital contracture
OMIM:613150	POMT2	29954	HP:0000175	Cleft palate
OMIM:613150	POMT2	29954	HP:0000545	Myopia
OMIM:613150	POMT2	29954	HP:0003306	Spinal rigidity
OMIM:613150	POMT2	29954	HP:0000557	Buphthalmos
OMIM:613150	POMT2	29954	HP:0003812	Phenotypic variability
OMIM:613150	POMT2	29954	HP:0002187	Intellectual disability, profound
OMIM:613150	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	POMT2	29954	HP:0002119	Ventriculomegaly
OMIM:613150	POMT2	29954	HP:0002084	Encephalocele
OMIM:613150	POMT2	29954	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	POMT2	29954	HP:0000659	Peters anomaly
OMIM:613150	POMT2	29954	HP:0002650	Scoliosis
OMIM:613150	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:613150	POMT2	29954	HP:0006829	Severe muscular hypotonia
OMIM:613150	COL4A1	1282	HP:0000204	Cleft upper lip
OMIM:613150	COL4A1	1282	HP:0000568	Microphthalmia
OMIM:613150	COL4A1	1282	HP:0002350	Cerebellar cyst
OMIM:613150	COL4A1	1282	HP:0007033	Cerebellar dysplasia
OMIM:613150	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:613150	COL4A1	1282	HP:0001250	Seizures
OMIM:613150	COL4A1	1282	HP:0009917	Persistent pupillary membrane
OMIM:613150	COL4A1	1282	HP:0000007	Autosomal recessive inheritance
OMIM:613150	COL4A1	1282	HP:0000518	Cataract
OMIM:613150	COL4A1	1282	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	COL4A1	1282	HP:0000252	Microcephaly
OMIM:613150	COL4A1	1282	HP:0001425	Heterogeneous
OMIM:613150	COL4A1	1282	HP:0003560	Muscular dystrophy
OMIM:613150	COL4A1	1282	HP:0000540	Hypermetropia
OMIM:613150	COL4A1	1282	HP:0000158	Macroglossia
OMIM:613150	COL4A1	1282	HP:0002126	Polymicrogyria
OMIM:613150	COL4A1	1282	HP:0001302	Pachygyria
OMIM:613150	COL4A1	1282	HP:0010864	Intellectual disability, severe
OMIM:613150	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:613150	COL4A1	1282	HP:0002803	Congenital contracture
OMIM:613150	COL4A1	1282	HP:0000175	Cleft palate
OMIM:613150	COL4A1	1282	HP:0000545	Myopia
OMIM:613150	COL4A1	1282	HP:0003306	Spinal rigidity
OMIM:613150	COL4A1	1282	HP:0000557	Buphthalmos
OMIM:613150	COL4A1	1282	HP:0003812	Phenotypic variability
OMIM:613150	COL4A1	1282	HP:0002187	Intellectual disability, profound
OMIM:613150	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	COL4A1	1282	HP:0002119	Ventriculomegaly
OMIM:613150	COL4A1	1282	HP:0002084	Encephalocele
OMIM:613150	COL4A1	1282	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	COL4A1	1282	HP:0000659	Peters anomaly
OMIM:613150	COL4A1	1282	HP:0002650	Scoliosis
OMIM:613150	COL4A1	1282	HP:0001321	Cerebellar hypoplasia
OMIM:613150	COL4A1	1282	HP:0006829	Severe muscular hypotonia
OMIM:613150	POMK	84197	HP:0000204	Cleft upper lip
OMIM:613150	POMK	84197	HP:0000568	Microphthalmia
OMIM:613150	POMK	84197	HP:0002350	Cerebellar cyst
OMIM:613150	POMK	84197	HP:0007033	Cerebellar dysplasia
OMIM:613150	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:613150	POMK	84197	HP:0001250	Seizures
OMIM:613150	POMK	84197	HP:0009917	Persistent pupillary membrane
OMIM:613150	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:613150	POMK	84197	HP:0000518	Cataract
OMIM:613150	POMK	84197	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	POMK	84197	HP:0000252	Microcephaly
OMIM:613150	POMK	84197	HP:0001425	Heterogeneous
OMIM:613150	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:613150	POMK	84197	HP:0000540	Hypermetropia
OMIM:613150	POMK	84197	HP:0000158	Macroglossia
OMIM:613150	POMK	84197	HP:0002126	Polymicrogyria
OMIM:613150	POMK	84197	HP:0001302	Pachygyria
OMIM:613150	POMK	84197	HP:0010864	Intellectual disability, severe
OMIM:613150	POMK	84197	HP:0000238	Hydrocephalus
OMIM:613150	POMK	84197	HP:0002803	Congenital contracture
OMIM:613150	POMK	84197	HP:0000175	Cleft palate
OMIM:613150	POMK	84197	HP:0000545	Myopia
OMIM:613150	POMK	84197	HP:0003306	Spinal rigidity
OMIM:613150	POMK	84197	HP:0000557	Buphthalmos
OMIM:613150	POMK	84197	HP:0003812	Phenotypic variability
OMIM:613150	POMK	84197	HP:0002187	Intellectual disability, profound
OMIM:613150	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	POMK	84197	HP:0002119	Ventriculomegaly
OMIM:613150	POMK	84197	HP:0002084	Encephalocele
OMIM:613150	POMK	84197	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	POMK	84197	HP:0000659	Peters anomaly
OMIM:613150	POMK	84197	HP:0002650	Scoliosis
OMIM:613150	POMK	84197	HP:0001321	Cerebellar hypoplasia
OMIM:613150	POMK	84197	HP:0006829	Severe muscular hypotonia
OMIM:613150	GMPPB	29925	HP:0000204	Cleft upper lip
OMIM:613150	GMPPB	29925	HP:0000568	Microphthalmia
OMIM:613150	GMPPB	29925	HP:0002350	Cerebellar cyst
OMIM:613150	GMPPB	29925	HP:0007033	Cerebellar dysplasia
OMIM:613150	GMPPB	29925	HP:0007260	Type II lissencephaly
OMIM:613150	GMPPB	29925	HP:0001250	Seizures
OMIM:613150	GMPPB	29925	HP:0009917	Persistent pupillary membrane
OMIM:613150	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:613150	GMPPB	29925	HP:0000518	Cataract
OMIM:613150	GMPPB	29925	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	GMPPB	29925	HP:0000252	Microcephaly
OMIM:613150	GMPPB	29925	HP:0001425	Heterogeneous
OMIM:613150	GMPPB	29925	HP:0003560	Muscular dystrophy
OMIM:613150	GMPPB	29925	HP:0000540	Hypermetropia
OMIM:613150	GMPPB	29925	HP:0000158	Macroglossia
OMIM:613150	GMPPB	29925	HP:0002126	Polymicrogyria
OMIM:613150	GMPPB	29925	HP:0001302	Pachygyria
OMIM:613150	GMPPB	29925	HP:0010864	Intellectual disability, severe
OMIM:613150	GMPPB	29925	HP:0000238	Hydrocephalus
OMIM:613150	GMPPB	29925	HP:0002803	Congenital contracture
OMIM:613150	GMPPB	29925	HP:0000175	Cleft palate
OMIM:613150	GMPPB	29925	HP:0000545	Myopia
OMIM:613150	GMPPB	29925	HP:0003306	Spinal rigidity
OMIM:613150	GMPPB	29925	HP:0000557	Buphthalmos
OMIM:613150	GMPPB	29925	HP:0003812	Phenotypic variability
OMIM:613150	GMPPB	29925	HP:0002187	Intellectual disability, profound
OMIM:613150	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	GMPPB	29925	HP:0002119	Ventriculomegaly
OMIM:613150	GMPPB	29925	HP:0002084	Encephalocele
OMIM:613150	GMPPB	29925	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	GMPPB	29925	HP:0000659	Peters anomaly
OMIM:613150	GMPPB	29925	HP:0002650	Scoliosis
OMIM:613150	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:613150	GMPPB	29925	HP:0006829	Severe muscular hypotonia
OMIM:613150	DAG1	1605	HP:0000204	Cleft upper lip
OMIM:613150	DAG1	1605	HP:0000568	Microphthalmia
OMIM:613150	DAG1	1605	HP:0002350	Cerebellar cyst
OMIM:613150	DAG1	1605	HP:0007033	Cerebellar dysplasia
OMIM:613150	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:613150	DAG1	1605	HP:0001250	Seizures
OMIM:613150	DAG1	1605	HP:0009917	Persistent pupillary membrane
OMIM:613150	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:613150	DAG1	1605	HP:0000518	Cataract
OMIM:613150	DAG1	1605	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	DAG1	1605	HP:0000252	Microcephaly
OMIM:613150	DAG1	1605	HP:0001425	Heterogeneous
OMIM:613150	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:613150	DAG1	1605	HP:0000540	Hypermetropia
OMIM:613150	DAG1	1605	HP:0000158	Macroglossia
OMIM:613150	DAG1	1605	HP:0002126	Polymicrogyria
OMIM:613150	DAG1	1605	HP:0001302	Pachygyria
OMIM:613150	DAG1	1605	HP:0010864	Intellectual disability, severe
OMIM:613150	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:613150	DAG1	1605	HP:0002803	Congenital contracture
OMIM:613150	DAG1	1605	HP:0000175	Cleft palate
OMIM:613150	DAG1	1605	HP:0000545	Myopia
OMIM:613150	DAG1	1605	HP:0003306	Spinal rigidity
OMIM:613150	DAG1	1605	HP:0000557	Buphthalmos
OMIM:613150	DAG1	1605	HP:0003812	Phenotypic variability
OMIM:613150	DAG1	1605	HP:0002187	Intellectual disability, profound
OMIM:613150	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	DAG1	1605	HP:0002119	Ventriculomegaly
OMIM:613150	DAG1	1605	HP:0002084	Encephalocele
OMIM:613150	DAG1	1605	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	DAG1	1605	HP:0000659	Peters anomaly
OMIM:613150	DAG1	1605	HP:0002650	Scoliosis
OMIM:613150	DAG1	1605	HP:0001321	Cerebellar hypoplasia
OMIM:613150	DAG1	1605	HP:0006829	Severe muscular hypotonia
OMIM:613150	POMGNT1	55624	HP:0000204	Cleft upper lip
OMIM:613150	POMGNT1	55624	HP:0000568	Microphthalmia
OMIM:613150	POMGNT1	55624	HP:0002350	Cerebellar cyst
OMIM:613150	POMGNT1	55624	HP:0007033	Cerebellar dysplasia
OMIM:613150	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:613150	POMGNT1	55624	HP:0001250	Seizures
OMIM:613150	POMGNT1	55624	HP:0009917	Persistent pupillary membrane
OMIM:613150	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:613150	POMGNT1	55624	HP:0000518	Cataract
OMIM:613150	POMGNT1	55624	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:613150	POMGNT1	55624	HP:0001425	Heterogeneous
OMIM:613150	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:613150	POMGNT1	55624	HP:0000540	Hypermetropia
OMIM:613150	POMGNT1	55624	HP:0000158	Macroglossia
OMIM:613150	POMGNT1	55624	HP:0002126	Polymicrogyria
OMIM:613150	POMGNT1	55624	HP:0001302	Pachygyria
OMIM:613150	POMGNT1	55624	HP:0010864	Intellectual disability, severe
OMIM:613150	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:613150	POMGNT1	55624	HP:0002803	Congenital contracture
OMIM:613150	POMGNT1	55624	HP:0000175	Cleft palate
OMIM:613150	POMGNT1	55624	HP:0000545	Myopia
OMIM:613150	POMGNT1	55624	HP:0003306	Spinal rigidity
OMIM:613150	POMGNT1	55624	HP:0000557	Buphthalmos
OMIM:613150	POMGNT1	55624	HP:0003812	Phenotypic variability
OMIM:613150	POMGNT1	55624	HP:0002187	Intellectual disability, profound
OMIM:613150	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	POMGNT1	55624	HP:0002119	Ventriculomegaly
OMIM:613150	POMGNT1	55624	HP:0002084	Encephalocele
OMIM:613150	POMGNT1	55624	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	POMGNT1	55624	HP:0000659	Peters anomaly
OMIM:613150	POMGNT1	55624	HP:0002650	Scoliosis
OMIM:613150	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:613150	POMGNT1	55624	HP:0006829	Severe muscular hypotonia
OMIM:613150	FKTN	2218	HP:0000204	Cleft upper lip
OMIM:613150	FKTN	2218	HP:0000568	Microphthalmia
OMIM:613150	FKTN	2218	HP:0002350	Cerebellar cyst
OMIM:613150	FKTN	2218	HP:0007033	Cerebellar dysplasia
OMIM:613150	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:613150	FKTN	2218	HP:0001250	Seizures
OMIM:613150	FKTN	2218	HP:0009917	Persistent pupillary membrane
OMIM:613150	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:613150	FKTN	2218	HP:0000518	Cataract
OMIM:613150	FKTN	2218	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	FKTN	2218	HP:0000252	Microcephaly
OMIM:613150	FKTN	2218	HP:0001425	Heterogeneous
OMIM:613150	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:613150	FKTN	2218	HP:0000540	Hypermetropia
OMIM:613150	FKTN	2218	HP:0000158	Macroglossia
OMIM:613150	FKTN	2218	HP:0002126	Polymicrogyria
OMIM:613150	FKTN	2218	HP:0001302	Pachygyria
OMIM:613150	FKTN	2218	HP:0010864	Intellectual disability, severe
OMIM:613150	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:613150	FKTN	2218	HP:0002803	Congenital contracture
OMIM:613150	FKTN	2218	HP:0000175	Cleft palate
OMIM:613150	FKTN	2218	HP:0000545	Myopia
OMIM:613150	FKTN	2218	HP:0003306	Spinal rigidity
OMIM:613150	FKTN	2218	HP:0000557	Buphthalmos
OMIM:613150	FKTN	2218	HP:0003812	Phenotypic variability
OMIM:613150	FKTN	2218	HP:0002187	Intellectual disability, profound
OMIM:613150	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	FKTN	2218	HP:0002119	Ventriculomegaly
OMIM:613150	FKTN	2218	HP:0002084	Encephalocele
OMIM:613150	FKTN	2218	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	FKTN	2218	HP:0000659	Peters anomaly
OMIM:613150	FKTN	2218	HP:0002650	Scoliosis
OMIM:613150	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:613150	FKTN	2218	HP:0006829	Severe muscular hypotonia
OMIM:613150	FKRP	79147	HP:0000204	Cleft upper lip
OMIM:613150	FKRP	79147	HP:0000568	Microphthalmia
OMIM:613150	FKRP	79147	HP:0002350	Cerebellar cyst
OMIM:613150	FKRP	79147	HP:0007033	Cerebellar dysplasia
OMIM:613150	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:613150	FKRP	79147	HP:0001250	Seizures
OMIM:613150	FKRP	79147	HP:0009917	Persistent pupillary membrane
OMIM:613150	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:613150	FKRP	79147	HP:0000518	Cataract
OMIM:613150	FKRP	79147	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	FKRP	79147	HP:0000252	Microcephaly
OMIM:613150	FKRP	79147	HP:0001425	Heterogeneous
OMIM:613150	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:613150	FKRP	79147	HP:0000540	Hypermetropia
OMIM:613150	FKRP	79147	HP:0000158	Macroglossia
OMIM:613150	FKRP	79147	HP:0002126	Polymicrogyria
OMIM:613150	FKRP	79147	HP:0001302	Pachygyria
OMIM:613150	FKRP	79147	HP:0010864	Intellectual disability, severe
OMIM:613150	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:613150	FKRP	79147	HP:0002803	Congenital contracture
OMIM:613150	FKRP	79147	HP:0000175	Cleft palate
OMIM:613150	FKRP	79147	HP:0000545	Myopia
OMIM:613150	FKRP	79147	HP:0003306	Spinal rigidity
OMIM:613150	FKRP	79147	HP:0000557	Buphthalmos
OMIM:613150	FKRP	79147	HP:0003812	Phenotypic variability
OMIM:613150	FKRP	79147	HP:0002187	Intellectual disability, profound
OMIM:613150	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	FKRP	79147	HP:0002119	Ventriculomegaly
OMIM:613150	FKRP	79147	HP:0002084	Encephalocele
OMIM:613150	FKRP	79147	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	FKRP	79147	HP:0000659	Peters anomaly
OMIM:613150	FKRP	79147	HP:0002650	Scoliosis
OMIM:613150	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:613150	FKRP	79147	HP:0006829	Severe muscular hypotonia
OMIM:613150	ISPD	729920	HP:0000204	Cleft upper lip
OMIM:613150	ISPD	729920	HP:0000568	Microphthalmia
OMIM:613150	ISPD	729920	HP:0002350	Cerebellar cyst
OMIM:613150	ISPD	729920	HP:0007033	Cerebellar dysplasia
OMIM:613150	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:613150	ISPD	729920	HP:0001250	Seizures
OMIM:613150	ISPD	729920	HP:0009917	Persistent pupillary membrane
OMIM:613150	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:613150	ISPD	729920	HP:0000518	Cataract
OMIM:613150	ISPD	729920	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	ISPD	729920	HP:0000252	Microcephaly
OMIM:613150	ISPD	729920	HP:0001425	Heterogeneous
OMIM:613150	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:613150	ISPD	729920	HP:0000540	Hypermetropia
OMIM:613150	ISPD	729920	HP:0000158	Macroglossia
OMIM:613150	ISPD	729920	HP:0002126	Polymicrogyria
OMIM:613150	ISPD	729920	HP:0001302	Pachygyria
OMIM:613150	ISPD	729920	HP:0010864	Intellectual disability, severe
OMIM:613150	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:613150	ISPD	729920	HP:0002803	Congenital contracture
OMIM:613150	ISPD	729920	HP:0000175	Cleft palate
OMIM:613150	ISPD	729920	HP:0000545	Myopia
OMIM:613150	ISPD	729920	HP:0003306	Spinal rigidity
OMIM:613150	ISPD	729920	HP:0000557	Buphthalmos
OMIM:613150	ISPD	729920	HP:0003812	Phenotypic variability
OMIM:613150	ISPD	729920	HP:0002187	Intellectual disability, profound
OMIM:613150	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	ISPD	729920	HP:0002119	Ventriculomegaly
OMIM:613150	ISPD	729920	HP:0002084	Encephalocele
OMIM:613150	ISPD	729920	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	ISPD	729920	HP:0000659	Peters anomaly
OMIM:613150	ISPD	729920	HP:0002650	Scoliosis
OMIM:613150	ISPD	729920	HP:0001321	Cerebellar hypoplasia
OMIM:613150	ISPD	729920	HP:0006829	Severe muscular hypotonia
OMIM:613150	B3GALNT2	148789	HP:0000204	Cleft upper lip
OMIM:613150	B3GALNT2	148789	HP:0000568	Microphthalmia
OMIM:613150	B3GALNT2	148789	HP:0002350	Cerebellar cyst
OMIM:613150	B3GALNT2	148789	HP:0007033	Cerebellar dysplasia
OMIM:613150	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:613150	B3GALNT2	148789	HP:0001250	Seizures
OMIM:613150	B3GALNT2	148789	HP:0009917	Persistent pupillary membrane
OMIM:613150	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:613150	B3GALNT2	148789	HP:0000518	Cataract
OMIM:613150	B3GALNT2	148789	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	B3GALNT2	148789	HP:0000252	Microcephaly
OMIM:613150	B3GALNT2	148789	HP:0001425	Heterogeneous
OMIM:613150	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:613150	B3GALNT2	148789	HP:0000540	Hypermetropia
OMIM:613150	B3GALNT2	148789	HP:0000158	Macroglossia
OMIM:613150	B3GALNT2	148789	HP:0002126	Polymicrogyria
OMIM:613150	B3GALNT2	148789	HP:0001302	Pachygyria
OMIM:613150	B3GALNT2	148789	HP:0010864	Intellectual disability, severe
OMIM:613150	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:613150	B3GALNT2	148789	HP:0002803	Congenital contracture
OMIM:613150	B3GALNT2	148789	HP:0000175	Cleft palate
OMIM:613150	B3GALNT2	148789	HP:0000545	Myopia
OMIM:613150	B3GALNT2	148789	HP:0003306	Spinal rigidity
OMIM:613150	B3GALNT2	148789	HP:0000557	Buphthalmos
OMIM:613150	B3GALNT2	148789	HP:0003812	Phenotypic variability
OMIM:613150	B3GALNT2	148789	HP:0002187	Intellectual disability, profound
OMIM:613150	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	B3GALNT2	148789	HP:0002119	Ventriculomegaly
OMIM:613150	B3GALNT2	148789	HP:0002084	Encephalocele
OMIM:613150	B3GALNT2	148789	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	B3GALNT2	148789	HP:0000659	Peters anomaly
OMIM:613150	B3GALNT2	148789	HP:0002650	Scoliosis
OMIM:613150	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:613150	B3GALNT2	148789	HP:0006829	Severe muscular hypotonia
OMIM:613150	POMT1	10585	HP:0000204	Cleft upper lip
OMIM:613150	POMT1	10585	HP:0000568	Microphthalmia
OMIM:613150	POMT1	10585	HP:0002350	Cerebellar cyst
OMIM:613150	POMT1	10585	HP:0007033	Cerebellar dysplasia
OMIM:613150	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:613150	POMT1	10585	HP:0001250	Seizures
OMIM:613150	POMT1	10585	HP:0009917	Persistent pupillary membrane
OMIM:613150	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:613150	POMT1	10585	HP:0000518	Cataract
OMIM:613150	POMT1	10585	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	POMT1	10585	HP:0000252	Microcephaly
OMIM:613150	POMT1	10585	HP:0001425	Heterogeneous
OMIM:613150	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:613150	POMT1	10585	HP:0000540	Hypermetropia
OMIM:613150	POMT1	10585	HP:0000158	Macroglossia
OMIM:613150	POMT1	10585	HP:0002126	Polymicrogyria
OMIM:613150	POMT1	10585	HP:0001302	Pachygyria
OMIM:613150	POMT1	10585	HP:0010864	Intellectual disability, severe
OMIM:613150	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:613150	POMT1	10585	HP:0002803	Congenital contracture
OMIM:613150	POMT1	10585	HP:0000175	Cleft palate
OMIM:613150	POMT1	10585	HP:0000545	Myopia
OMIM:613150	POMT1	10585	HP:0003306	Spinal rigidity
OMIM:613150	POMT1	10585	HP:0000557	Buphthalmos
OMIM:613150	POMT1	10585	HP:0003812	Phenotypic variability
OMIM:613150	POMT1	10585	HP:0002187	Intellectual disability, profound
OMIM:613150	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	POMT1	10585	HP:0002119	Ventriculomegaly
OMIM:613150	POMT1	10585	HP:0002084	Encephalocele
OMIM:613150	POMT1	10585	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	POMT1	10585	HP:0000659	Peters anomaly
OMIM:613150	POMT1	10585	HP:0002650	Scoliosis
OMIM:613150	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:613150	POMT1	10585	HP:0006829	Severe muscular hypotonia
OMIM:613150	TMEM5	10329	HP:0000204	Cleft upper lip
OMIM:613150	TMEM5	10329	HP:0000568	Microphthalmia
OMIM:613150	TMEM5	10329	HP:0002350	Cerebellar cyst
OMIM:613150	TMEM5	10329	HP:0007033	Cerebellar dysplasia
OMIM:613150	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:613150	TMEM5	10329	HP:0001250	Seizures
OMIM:613150	TMEM5	10329	HP:0009917	Persistent pupillary membrane
OMIM:613150	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:613150	TMEM5	10329	HP:0000518	Cataract
OMIM:613150	TMEM5	10329	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	TMEM5	10329	HP:0000252	Microcephaly
OMIM:613150	TMEM5	10329	HP:0001425	Heterogeneous
OMIM:613150	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:613150	TMEM5	10329	HP:0000540	Hypermetropia
OMIM:613150	TMEM5	10329	HP:0000158	Macroglossia
OMIM:613150	TMEM5	10329	HP:0002126	Polymicrogyria
OMIM:613150	TMEM5	10329	HP:0001302	Pachygyria
OMIM:613150	TMEM5	10329	HP:0010864	Intellectual disability, severe
OMIM:613150	TMEM5	10329	HP:0000238	Hydrocephalus
OMIM:613150	TMEM5	10329	HP:0002803	Congenital contracture
OMIM:613150	TMEM5	10329	HP:0000175	Cleft palate
OMIM:613150	TMEM5	10329	HP:0000545	Myopia
OMIM:613150	TMEM5	10329	HP:0003306	Spinal rigidity
OMIM:613150	TMEM5	10329	HP:0000557	Buphthalmos
OMIM:613150	TMEM5	10329	HP:0003812	Phenotypic variability
OMIM:613150	TMEM5	10329	HP:0002187	Intellectual disability, profound
OMIM:613150	TMEM5	10329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	TMEM5	10329	HP:0002119	Ventriculomegaly
OMIM:613150	TMEM5	10329	HP:0002084	Encephalocele
OMIM:613150	TMEM5	10329	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	TMEM5	10329	HP:0000659	Peters anomaly
OMIM:613150	TMEM5	10329	HP:0002650	Scoliosis
OMIM:613150	TMEM5	10329	HP:0001321	Cerebellar hypoplasia
OMIM:613150	TMEM5	10329	HP:0006829	Severe muscular hypotonia
OMIM:613150	POMGNT2	84892	HP:0000204	Cleft upper lip
OMIM:613150	POMGNT2	84892	HP:0000568	Microphthalmia
OMIM:613150	POMGNT2	84892	HP:0002350	Cerebellar cyst
OMIM:613150	POMGNT2	84892	HP:0007033	Cerebellar dysplasia
OMIM:613150	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:613150	POMGNT2	84892	HP:0001250	Seizures
OMIM:613150	POMGNT2	84892	HP:0009917	Persistent pupillary membrane
OMIM:613150	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:613150	POMGNT2	84892	HP:0000518	Cataract
OMIM:613150	POMGNT2	84892	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	POMGNT2	84892	HP:0000252	Microcephaly
OMIM:613150	POMGNT2	84892	HP:0001425	Heterogeneous
OMIM:613150	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:613150	POMGNT2	84892	HP:0000540	Hypermetropia
OMIM:613150	POMGNT2	84892	HP:0000158	Macroglossia
OMIM:613150	POMGNT2	84892	HP:0002126	Polymicrogyria
OMIM:613150	POMGNT2	84892	HP:0001302	Pachygyria
OMIM:613150	POMGNT2	84892	HP:0010864	Intellectual disability, severe
OMIM:613150	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:613150	POMGNT2	84892	HP:0002803	Congenital contracture
OMIM:613150	POMGNT2	84892	HP:0000175	Cleft palate
OMIM:613150	POMGNT2	84892	HP:0000545	Myopia
OMIM:613150	POMGNT2	84892	HP:0003306	Spinal rigidity
OMIM:613150	POMGNT2	84892	HP:0000557	Buphthalmos
OMIM:613150	POMGNT2	84892	HP:0003812	Phenotypic variability
OMIM:613150	POMGNT2	84892	HP:0002187	Intellectual disability, profound
OMIM:613150	POMGNT2	84892	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	POMGNT2	84892	HP:0002119	Ventriculomegaly
OMIM:613150	POMGNT2	84892	HP:0002084	Encephalocele
OMIM:613150	POMGNT2	84892	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	POMGNT2	84892	HP:0000659	Peters anomaly
OMIM:613150	POMGNT2	84892	HP:0002650	Scoliosis
OMIM:613150	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
OMIM:613150	POMGNT2	84892	HP:0006829	Severe muscular hypotonia
OMIM:613150	LARGE	9215	HP:0000204	Cleft upper lip
OMIM:613150	LARGE	9215	HP:0000568	Microphthalmia
OMIM:613150	LARGE	9215	HP:0002350	Cerebellar cyst
OMIM:613150	LARGE	9215	HP:0007033	Cerebellar dysplasia
OMIM:613150	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:613150	LARGE	9215	HP:0001250	Seizures
OMIM:613150	LARGE	9215	HP:0009917	Persistent pupillary membrane
OMIM:613150	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:613150	LARGE	9215	HP:0000518	Cataract
OMIM:613150	LARGE	9215	HP:0002365	Hypoplasia of the brainstem
OMIM:613150	LARGE	9215	HP:0000252	Microcephaly
OMIM:613150	LARGE	9215	HP:0001425	Heterogeneous
OMIM:613150	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:613150	LARGE	9215	HP:0000540	Hypermetropia
OMIM:613150	LARGE	9215	HP:0000158	Macroglossia
OMIM:613150	LARGE	9215	HP:0002126	Polymicrogyria
OMIM:613150	LARGE	9215	HP:0001302	Pachygyria
OMIM:613150	LARGE	9215	HP:0010864	Intellectual disability, severe
OMIM:613150	LARGE	9215	HP:0000238	Hydrocephalus
OMIM:613150	LARGE	9215	HP:0002803	Congenital contracture
OMIM:613150	LARGE	9215	HP:0000175	Cleft palate
OMIM:613150	LARGE	9215	HP:0000545	Myopia
OMIM:613150	LARGE	9215	HP:0003306	Spinal rigidity
OMIM:613150	LARGE	9215	HP:0000557	Buphthalmos
OMIM:613150	LARGE	9215	HP:0003812	Phenotypic variability
OMIM:613150	LARGE	9215	HP:0002187	Intellectual disability, profound
OMIM:613150	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613150	LARGE	9215	HP:0002119	Ventriculomegaly
OMIM:613150	LARGE	9215	HP:0002084	Encephalocele
OMIM:613150	LARGE	9215	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613150	LARGE	9215	HP:0000659	Peters anomaly
OMIM:613150	LARGE	9215	HP:0002650	Scoliosis
OMIM:613150	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:613150	LARGE	9215	HP:0006829	Severe muscular hypotonia
OMIM:604317	ASPM	259266	HP:0000007	Autosomal recessive inheritance
OMIM:604317	ASPM	259266	HP:0000752	Hyperactivity
OMIM:604317	ASPM	259266	HP:0010636	Schizencephaly
OMIM:604317	ASPM	259266	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	ASPM	259266	HP:0000750	Delayed speech and language development
OMIM:604317	ASPM	259266	HP:0001249	Intellectual disability
OMIM:604317	ASPM	259266	HP:0001302	Pachygyria
OMIM:604317	ASPM	259266	HP:0000340	Sloping forehead
OMIM:604317	ASPM	259266	HP:0001250	Seizures
OMIM:604317	ASPM	259266	HP:0009879	Cortical gyral simplification
OMIM:604317	ASPM	259266	HP:0001285	Spastic tetraparesis
OMIM:604317	ASPM	259266	HP:0001339	Lissencephaly
OMIM:604317	ASPM	259266	HP:0003577	Congenital onset
OMIM:604317	ASPM	259266	HP:0002126	Polymicrogyria
OMIM:604317	ASPM	259266	HP:0001347	Hyperreflexia
OMIM:604317	ASPM	259266	HP:0000252	Microcephaly
OMIM:604317	ASPM	259266	HP:0000718	Aggressive behavior
OMIM:604317	ASPM	259266	HP:0001558	Decreased fetal movement
OMIM:604317	ASPM	259266	HP:0002282	Heterotopia
OMIM:604317	ASPM	259266	HP:0001263	Global developmental delay
OMIM:604317	MCPH1	79648	HP:0000007	Autosomal recessive inheritance
OMIM:604317	MCPH1	79648	HP:0000752	Hyperactivity
OMIM:604317	MCPH1	79648	HP:0010636	Schizencephaly
OMIM:604317	MCPH1	79648	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	MCPH1	79648	HP:0000750	Delayed speech and language development
OMIM:604317	MCPH1	79648	HP:0001249	Intellectual disability
OMIM:604317	MCPH1	79648	HP:0001302	Pachygyria
OMIM:604317	MCPH1	79648	HP:0000340	Sloping forehead
OMIM:604317	MCPH1	79648	HP:0001250	Seizures
OMIM:604317	MCPH1	79648	HP:0009879	Cortical gyral simplification
OMIM:604317	MCPH1	79648	HP:0001285	Spastic tetraparesis
OMIM:604317	MCPH1	79648	HP:0001339	Lissencephaly
OMIM:604317	MCPH1	79648	HP:0003577	Congenital onset
OMIM:604317	MCPH1	79648	HP:0002126	Polymicrogyria
OMIM:604317	MCPH1	79648	HP:0001347	Hyperreflexia
OMIM:604317	MCPH1	79648	HP:0000252	Microcephaly
OMIM:604317	MCPH1	79648	HP:0000718	Aggressive behavior
OMIM:604317	MCPH1	79648	HP:0001558	Decreased fetal movement
OMIM:604317	MCPH1	79648	HP:0002282	Heterotopia
OMIM:604317	MCPH1	79648	HP:0001263	Global developmental delay
OMIM:604317	ANKLE2	23141	HP:0000007	Autosomal recessive inheritance
OMIM:604317	ANKLE2	23141	HP:0000752	Hyperactivity
OMIM:604317	ANKLE2	23141	HP:0010636	Schizencephaly
OMIM:604317	ANKLE2	23141	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	ANKLE2	23141	HP:0000750	Delayed speech and language development
OMIM:604317	ANKLE2	23141	HP:0001249	Intellectual disability
OMIM:604317	ANKLE2	23141	HP:0001302	Pachygyria
OMIM:604317	ANKLE2	23141	HP:0000340	Sloping forehead
OMIM:604317	ANKLE2	23141	HP:0001250	Seizures
OMIM:604317	ANKLE2	23141	HP:0009879	Cortical gyral simplification
OMIM:604317	ANKLE2	23141	HP:0001285	Spastic tetraparesis
OMIM:604317	ANKLE2	23141	HP:0001339	Lissencephaly
OMIM:604317	ANKLE2	23141	HP:0003577	Congenital onset
OMIM:604317	ANKLE2	23141	HP:0002126	Polymicrogyria
OMIM:604317	ANKLE2	23141	HP:0001347	Hyperreflexia
OMIM:604317	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:604317	ANKLE2	23141	HP:0000718	Aggressive behavior
OMIM:604317	ANKLE2	23141	HP:0001558	Decreased fetal movement
OMIM:604317	ANKLE2	23141	HP:0002282	Heterotopia
OMIM:604317	ANKLE2	23141	HP:0001263	Global developmental delay
OMIM:604317	SASS6	163786	HP:0000007	Autosomal recessive inheritance
OMIM:604317	SASS6	163786	HP:0000752	Hyperactivity
OMIM:604317	SASS6	163786	HP:0010636	Schizencephaly
OMIM:604317	SASS6	163786	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	SASS6	163786	HP:0000750	Delayed speech and language development
OMIM:604317	SASS6	163786	HP:0001249	Intellectual disability
OMIM:604317	SASS6	163786	HP:0001302	Pachygyria
OMIM:604317	SASS6	163786	HP:0000340	Sloping forehead
OMIM:604317	SASS6	163786	HP:0001250	Seizures
OMIM:604317	SASS6	163786	HP:0009879	Cortical gyral simplification
OMIM:604317	SASS6	163786	HP:0001285	Spastic tetraparesis
OMIM:604317	SASS6	163786	HP:0001339	Lissencephaly
OMIM:604317	SASS6	163786	HP:0003577	Congenital onset
OMIM:604317	SASS6	163786	HP:0002126	Polymicrogyria
OMIM:604317	SASS6	163786	HP:0001347	Hyperreflexia
OMIM:604317	SASS6	163786	HP:0000252	Microcephaly
OMIM:604317	SASS6	163786	HP:0000718	Aggressive behavior
OMIM:604317	SASS6	163786	HP:0001558	Decreased fetal movement
OMIM:604317	SASS6	163786	HP:0002282	Heterotopia
OMIM:604317	SASS6	163786	HP:0001263	Global developmental delay
OMIM:604317	CDK5RAP2	55755	HP:0000007	Autosomal recessive inheritance
OMIM:604317	CDK5RAP2	55755	HP:0000752	Hyperactivity
OMIM:604317	CDK5RAP2	55755	HP:0010636	Schizencephaly
OMIM:604317	CDK5RAP2	55755	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	CDK5RAP2	55755	HP:0000750	Delayed speech and language development
OMIM:604317	CDK5RAP2	55755	HP:0001249	Intellectual disability
OMIM:604317	CDK5RAP2	55755	HP:0001302	Pachygyria
OMIM:604317	CDK5RAP2	55755	HP:0000340	Sloping forehead
OMIM:604317	CDK5RAP2	55755	HP:0001250	Seizures
OMIM:604317	CDK5RAP2	55755	HP:0009879	Cortical gyral simplification
OMIM:604317	CDK5RAP2	55755	HP:0001285	Spastic tetraparesis
OMIM:604317	CDK5RAP2	55755	HP:0001339	Lissencephaly
OMIM:604317	CDK5RAP2	55755	HP:0003577	Congenital onset
OMIM:604317	CDK5RAP2	55755	HP:0002126	Polymicrogyria
OMIM:604317	CDK5RAP2	55755	HP:0001347	Hyperreflexia
OMIM:604317	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:604317	CDK5RAP2	55755	HP:0000718	Aggressive behavior
OMIM:604317	CDK5RAP2	55755	HP:0001558	Decreased fetal movement
OMIM:604317	CDK5RAP2	55755	HP:0002282	Heterotopia
OMIM:604317	CDK5RAP2	55755	HP:0001263	Global developmental delay
OMIM:604317	MFSD2A	84879	HP:0000007	Autosomal recessive inheritance
OMIM:604317	MFSD2A	84879	HP:0000752	Hyperactivity
OMIM:604317	MFSD2A	84879	HP:0010636	Schizencephaly
OMIM:604317	MFSD2A	84879	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	MFSD2A	84879	HP:0000750	Delayed speech and language development
OMIM:604317	MFSD2A	84879	HP:0001249	Intellectual disability
OMIM:604317	MFSD2A	84879	HP:0001302	Pachygyria
OMIM:604317	MFSD2A	84879	HP:0000340	Sloping forehead
OMIM:604317	MFSD2A	84879	HP:0001250	Seizures
OMIM:604317	MFSD2A	84879	HP:0009879	Cortical gyral simplification
OMIM:604317	MFSD2A	84879	HP:0001285	Spastic tetraparesis
OMIM:604317	MFSD2A	84879	HP:0001339	Lissencephaly
OMIM:604317	MFSD2A	84879	HP:0003577	Congenital onset
OMIM:604317	MFSD2A	84879	HP:0002126	Polymicrogyria
OMIM:604317	MFSD2A	84879	HP:0001347	Hyperreflexia
OMIM:604317	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:604317	MFSD2A	84879	HP:0000718	Aggressive behavior
OMIM:604317	MFSD2A	84879	HP:0001558	Decreased fetal movement
OMIM:604317	MFSD2A	84879	HP:0002282	Heterotopia
OMIM:604317	MFSD2A	84879	HP:0001263	Global developmental delay
OMIM:604317	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:604317	CEP152	22995	HP:0000752	Hyperactivity
OMIM:604317	CEP152	22995	HP:0010636	Schizencephaly
OMIM:604317	CEP152	22995	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	CEP152	22995	HP:0000750	Delayed speech and language development
OMIM:604317	CEP152	22995	HP:0001249	Intellectual disability
OMIM:604317	CEP152	22995	HP:0001302	Pachygyria
OMIM:604317	CEP152	22995	HP:0000340	Sloping forehead
OMIM:604317	CEP152	22995	HP:0001250	Seizures
OMIM:604317	CEP152	22995	HP:0009879	Cortical gyral simplification
OMIM:604317	CEP152	22995	HP:0001285	Spastic tetraparesis
OMIM:604317	CEP152	22995	HP:0001339	Lissencephaly
OMIM:604317	CEP152	22995	HP:0003577	Congenital onset
OMIM:604317	CEP152	22995	HP:0002126	Polymicrogyria
OMIM:604317	CEP152	22995	HP:0001347	Hyperreflexia
OMIM:604317	CEP152	22995	HP:0000252	Microcephaly
OMIM:604317	CEP152	22995	HP:0000718	Aggressive behavior
OMIM:604317	CEP152	22995	HP:0001558	Decreased fetal movement
OMIM:604317	CEP152	22995	HP:0002282	Heterotopia
OMIM:604317	CEP152	22995	HP:0001263	Global developmental delay
OMIM:604317	WDR62	284403	HP:0000007	Autosomal recessive inheritance
OMIM:604317	WDR62	284403	HP:0000752	Hyperactivity
OMIM:604317	WDR62	284403	HP:0010636	Schizencephaly
OMIM:604317	WDR62	284403	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	WDR62	284403	HP:0000750	Delayed speech and language development
OMIM:604317	WDR62	284403	HP:0001249	Intellectual disability
OMIM:604317	WDR62	284403	HP:0001302	Pachygyria
OMIM:604317	WDR62	284403	HP:0000340	Sloping forehead
OMIM:604317	WDR62	284403	HP:0001250	Seizures
OMIM:604317	WDR62	284403	HP:0009879	Cortical gyral simplification
OMIM:604317	WDR62	284403	HP:0001285	Spastic tetraparesis
OMIM:604317	WDR62	284403	HP:0001339	Lissencephaly
OMIM:604317	WDR62	284403	HP:0003577	Congenital onset
OMIM:604317	WDR62	284403	HP:0002126	Polymicrogyria
OMIM:604317	WDR62	284403	HP:0001347	Hyperreflexia
OMIM:604317	WDR62	284403	HP:0000252	Microcephaly
OMIM:604317	WDR62	284403	HP:0000718	Aggressive behavior
OMIM:604317	WDR62	284403	HP:0001558	Decreased fetal movement
OMIM:604317	WDR62	284403	HP:0002282	Heterotopia
OMIM:604317	WDR62	284403	HP:0001263	Global developmental delay
OMIM:604317	PHC1	1911	HP:0000007	Autosomal recessive inheritance
OMIM:604317	PHC1	1911	HP:0000752	Hyperactivity
OMIM:604317	PHC1	1911	HP:0010636	Schizencephaly
OMIM:604317	PHC1	1911	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	PHC1	1911	HP:0000750	Delayed speech and language development
OMIM:604317	PHC1	1911	HP:0001249	Intellectual disability
OMIM:604317	PHC1	1911	HP:0001302	Pachygyria
OMIM:604317	PHC1	1911	HP:0000340	Sloping forehead
OMIM:604317	PHC1	1911	HP:0001250	Seizures
OMIM:604317	PHC1	1911	HP:0009879	Cortical gyral simplification
OMIM:604317	PHC1	1911	HP:0001285	Spastic tetraparesis
OMIM:604317	PHC1	1911	HP:0001339	Lissencephaly
OMIM:604317	PHC1	1911	HP:0003577	Congenital onset
OMIM:604317	PHC1	1911	HP:0002126	Polymicrogyria
OMIM:604317	PHC1	1911	HP:0001347	Hyperreflexia
OMIM:604317	PHC1	1911	HP:0000252	Microcephaly
OMIM:604317	PHC1	1911	HP:0000718	Aggressive behavior
OMIM:604317	PHC1	1911	HP:0001558	Decreased fetal movement
OMIM:604317	PHC1	1911	HP:0002282	Heterotopia
OMIM:604317	PHC1	1911	HP:0001263	Global developmental delay
OMIM:604317	CASC5	57082	HP:0000007	Autosomal recessive inheritance
OMIM:604317	CASC5	57082	HP:0000752	Hyperactivity
OMIM:604317	CASC5	57082	HP:0010636	Schizencephaly
OMIM:604317	CASC5	57082	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	CASC5	57082	HP:0000750	Delayed speech and language development
OMIM:604317	CASC5	57082	HP:0001249	Intellectual disability
OMIM:604317	CASC5	57082	HP:0001302	Pachygyria
OMIM:604317	CASC5	57082	HP:0000340	Sloping forehead
OMIM:604317	CASC5	57082	HP:0001250	Seizures
OMIM:604317	CASC5	57082	HP:0009879	Cortical gyral simplification
OMIM:604317	CASC5	57082	HP:0001285	Spastic tetraparesis
OMIM:604317	CASC5	57082	HP:0001339	Lissencephaly
OMIM:604317	CASC5	57082	HP:0003577	Congenital onset
OMIM:604317	CASC5	57082	HP:0002126	Polymicrogyria
OMIM:604317	CASC5	57082	HP:0001347	Hyperreflexia
OMIM:604317	CASC5	57082	HP:0000252	Microcephaly
OMIM:604317	CASC5	57082	HP:0000718	Aggressive behavior
OMIM:604317	CASC5	57082	HP:0001558	Decreased fetal movement
OMIM:604317	CASC5	57082	HP:0002282	Heterotopia
OMIM:604317	CASC5	57082	HP:0001263	Global developmental delay
OMIM:604317	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:604317	CENPJ	55835	HP:0000752	Hyperactivity
OMIM:604317	CENPJ	55835	HP:0010636	Schizencephaly
OMIM:604317	CENPJ	55835	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	CENPJ	55835	HP:0000750	Delayed speech and language development
OMIM:604317	CENPJ	55835	HP:0001249	Intellectual disability
OMIM:604317	CENPJ	55835	HP:0001302	Pachygyria
OMIM:604317	CENPJ	55835	HP:0000340	Sloping forehead
OMIM:604317	CENPJ	55835	HP:0001250	Seizures
OMIM:604317	CENPJ	55835	HP:0009879	Cortical gyral simplification
OMIM:604317	CENPJ	55835	HP:0001285	Spastic tetraparesis
OMIM:604317	CENPJ	55835	HP:0001339	Lissencephaly
OMIM:604317	CENPJ	55835	HP:0003577	Congenital onset
OMIM:604317	CENPJ	55835	HP:0002126	Polymicrogyria
OMIM:604317	CENPJ	55835	HP:0001347	Hyperreflexia
OMIM:604317	CENPJ	55835	HP:0000252	Microcephaly
OMIM:604317	CENPJ	55835	HP:0000718	Aggressive behavior
OMIM:604317	CENPJ	55835	HP:0001558	Decreased fetal movement
OMIM:604317	CENPJ	55835	HP:0002282	Heterotopia
OMIM:604317	CENPJ	55835	HP:0001263	Global developmental delay
OMIM:604317	STIL	6491	HP:0000007	Autosomal recessive inheritance
OMIM:604317	STIL	6491	HP:0000752	Hyperactivity
OMIM:604317	STIL	6491	HP:0010636	Schizencephaly
OMIM:604317	STIL	6491	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	STIL	6491	HP:0000750	Delayed speech and language development
OMIM:604317	STIL	6491	HP:0001249	Intellectual disability
OMIM:604317	STIL	6491	HP:0001302	Pachygyria
OMIM:604317	STIL	6491	HP:0000340	Sloping forehead
OMIM:604317	STIL	6491	HP:0001250	Seizures
OMIM:604317	STIL	6491	HP:0009879	Cortical gyral simplification
OMIM:604317	STIL	6491	HP:0001285	Spastic tetraparesis
OMIM:604317	STIL	6491	HP:0001339	Lissencephaly
OMIM:604317	STIL	6491	HP:0003577	Congenital onset
OMIM:604317	STIL	6491	HP:0002126	Polymicrogyria
OMIM:604317	STIL	6491	HP:0001347	Hyperreflexia
OMIM:604317	STIL	6491	HP:0000252	Microcephaly
OMIM:604317	STIL	6491	HP:0000718	Aggressive behavior
OMIM:604317	STIL	6491	HP:0001558	Decreased fetal movement
OMIM:604317	STIL	6491	HP:0002282	Heterotopia
OMIM:604317	STIL	6491	HP:0001263	Global developmental delay
OMIM:604317	CDK6	1021	HP:0000007	Autosomal recessive inheritance
OMIM:604317	CDK6	1021	HP:0000752	Hyperactivity
OMIM:604317	CDK6	1021	HP:0010636	Schizencephaly
OMIM:604317	CDK6	1021	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	CDK6	1021	HP:0000750	Delayed speech and language development
OMIM:604317	CDK6	1021	HP:0001249	Intellectual disability
OMIM:604317	CDK6	1021	HP:0001302	Pachygyria
OMIM:604317	CDK6	1021	HP:0000340	Sloping forehead
OMIM:604317	CDK6	1021	HP:0001250	Seizures
OMIM:604317	CDK6	1021	HP:0009879	Cortical gyral simplification
OMIM:604317	CDK6	1021	HP:0001285	Spastic tetraparesis
OMIM:604317	CDK6	1021	HP:0001339	Lissencephaly
OMIM:604317	CDK6	1021	HP:0003577	Congenital onset
OMIM:604317	CDK6	1021	HP:0002126	Polymicrogyria
OMIM:604317	CDK6	1021	HP:0001347	Hyperreflexia
OMIM:604317	CDK6	1021	HP:0000252	Microcephaly
OMIM:604317	CDK6	1021	HP:0000718	Aggressive behavior
OMIM:604317	CDK6	1021	HP:0001558	Decreased fetal movement
OMIM:604317	CDK6	1021	HP:0002282	Heterotopia
OMIM:604317	CDK6	1021	HP:0001263	Global developmental delay
OMIM:604317	CEP135	9662	HP:0000007	Autosomal recessive inheritance
OMIM:604317	CEP135	9662	HP:0000752	Hyperactivity
OMIM:604317	CEP135	9662	HP:0010636	Schizencephaly
OMIM:604317	CEP135	9662	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	CEP135	9662	HP:0000750	Delayed speech and language development
OMIM:604317	CEP135	9662	HP:0001249	Intellectual disability
OMIM:604317	CEP135	9662	HP:0001302	Pachygyria
OMIM:604317	CEP135	9662	HP:0000340	Sloping forehead
OMIM:604317	CEP135	9662	HP:0001250	Seizures
OMIM:604317	CEP135	9662	HP:0009879	Cortical gyral simplification
OMIM:604317	CEP135	9662	HP:0001285	Spastic tetraparesis
OMIM:604317	CEP135	9662	HP:0001339	Lissencephaly
OMIM:604317	CEP135	9662	HP:0003577	Congenital onset
OMIM:604317	CEP135	9662	HP:0002126	Polymicrogyria
OMIM:604317	CEP135	9662	HP:0001347	Hyperreflexia
OMIM:604317	CEP135	9662	HP:0000252	Microcephaly
OMIM:604317	CEP135	9662	HP:0000718	Aggressive behavior
OMIM:604317	CEP135	9662	HP:0001558	Decreased fetal movement
OMIM:604317	CEP135	9662	HP:0002282	Heterotopia
OMIM:604317	CEP135	9662	HP:0001263	Global developmental delay
OMIM:604317	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:604317	CEP63	80254	HP:0000752	Hyperactivity
OMIM:604317	CEP63	80254	HP:0010636	Schizencephaly
OMIM:604317	CEP63	80254	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604317	CEP63	80254	HP:0000750	Delayed speech and language development
OMIM:604317	CEP63	80254	HP:0001249	Intellectual disability
OMIM:604317	CEP63	80254	HP:0001302	Pachygyria
OMIM:604317	CEP63	80254	HP:0000340	Sloping forehead
OMIM:604317	CEP63	80254	HP:0001250	Seizures
OMIM:604317	CEP63	80254	HP:0009879	Cortical gyral simplification
OMIM:604317	CEP63	80254	HP:0001285	Spastic tetraparesis
OMIM:604317	CEP63	80254	HP:0001339	Lissencephaly
OMIM:604317	CEP63	80254	HP:0003577	Congenital onset
OMIM:604317	CEP63	80254	HP:0002126	Polymicrogyria
OMIM:604317	CEP63	80254	HP:0001347	Hyperreflexia
OMIM:604317	CEP63	80254	HP:0000252	Microcephaly
OMIM:604317	CEP63	80254	HP:0000718	Aggressive behavior
OMIM:604317	CEP63	80254	HP:0001558	Decreased fetal movement
OMIM:604317	CEP63	80254	HP:0002282	Heterotopia
OMIM:604317	CEP63	80254	HP:0001263	Global developmental delay
OMIM:301050	COL4A5	1287	HP:0000519	Congenital cataract
OMIM:301050	COL4A5	1287	HP:0008064	Ichthyosis
OMIM:301050	COL4A5	1287	HP:0000407	Sensorineural hearing impairment
OMIM:301050	COL4A5	1287	HP:0000123	Nephritis
OMIM:301050	COL4A5	1287	HP:0000100	Nephrotic syndrome
OMIM:301050	COL4A5	1287	HP:0000545	Myopia
OMIM:301050	COL4A5	1287	HP:0003676	Progressive
OMIM:301050	COL4A5	1287	HP:0000829	Hypoparathyroidism
OMIM:301050	COL4A5	1287	HP:0001873	Thrombocytopenia
OMIM:301050	COL4A5	1287	HP:0003774	Stage 5 chronic kidney disease
OMIM:301050	COL4A5	1287	HP:0000822	Hypertension
OMIM:301050	COL4A5	1287	HP:0001423	X-linked dominant inheritance
OMIM:301050	COL4A5	1287	HP:0000093	Proteinuria
OMIM:301050	COL4A5	1287	HP:0001425	Heterogeneous
OMIM:615157	UQCRQ	27089	HP:0002067	Bradykinesia
OMIM:615157	UQCRQ	27089	HP:0001263	Global developmental delay
OMIM:615157	UQCRQ	27089	HP:0000007	Autosomal recessive inheritance
OMIM:615157	UQCRQ	27089	HP:0001618	Dysphonia
OMIM:615157	UQCRQ	27089	HP:0002311	Incoordination
OMIM:615157	UQCRQ	27089	HP:0000718	Aggressive behavior
OMIM:615157	UQCRQ	27089	HP:0002180	Neurodegeneration
OMIM:615157	UQCRQ	27089	HP:0000739	Anxiety
OMIM:615157	UQCRQ	27089	HP:0002313	Spastic paraparesis
OMIM:615157	UQCRQ	27089	HP:0003812	Phenotypic variability
OMIM:615157	UQCRQ	27089	HP:0003487	Babinski sign
OMIM:615157	UQCRQ	27089	HP:0002059	Cerebral atrophy
OMIM:615157	UQCRQ	27089	HP:0003202	Skeletal muscle atrophy
OMIM:615157	UQCRQ	27089	HP:0000365	Hearing impairment
OMIM:615157	UQCRQ	27089	HP:0000709	Psychosis
OMIM:615157	UQCRQ	27089	HP:0002186	Apraxia
OMIM:615157	UQCRQ	27089	HP:0100543	Cognitive impairment
OMIM:615157	UQCRQ	27089	HP:0000722	Obsessive-compulsive behavior
OMIM:615157	UQCRQ	27089	HP:0001332	Dystonia
OMIM:615157	UQCRQ	27089	HP:0001347	Hyperreflexia
OMIM:615157	UQCRQ	27089	HP:0000738	Hallucinations
OMIM:615157	UQCRQ	27089	HP:0001324	Muscle weakness
OMIM:615157	UQCRQ	27089	HP:0001272	Cerebellar atrophy
OMIM:615157	UQCRQ	27089	HP:0001337	Tremor
OMIM:615157	UQCRQ	27089	HP:0000639	Nystagmus
OMIM:615157	UQCRQ	27089	HP:0001260	Dysarthria
OMIM:615157	UQCRQ	27089	HP:0002075	Dysdiadochokinesis
OMIM:615157	UQCRQ	27089	HP:0001310	Dysmetria
OMIM:615157	CYC1	1537	HP:0002067	Bradykinesia
OMIM:615157	CYC1	1537	HP:0001263	Global developmental delay
OMIM:615157	CYC1	1537	HP:0000007	Autosomal recessive inheritance
OMIM:615157	CYC1	1537	HP:0001618	Dysphonia
OMIM:615157	CYC1	1537	HP:0002311	Incoordination
OMIM:615157	CYC1	1537	HP:0000718	Aggressive behavior
OMIM:615157	CYC1	1537	HP:0002180	Neurodegeneration
OMIM:615157	CYC1	1537	HP:0000739	Anxiety
OMIM:615157	CYC1	1537	HP:0002313	Spastic paraparesis
OMIM:615157	CYC1	1537	HP:0003812	Phenotypic variability
OMIM:615157	CYC1	1537	HP:0003487	Babinski sign
OMIM:615157	CYC1	1537	HP:0002059	Cerebral atrophy
OMIM:615157	CYC1	1537	HP:0003202	Skeletal muscle atrophy
OMIM:615157	CYC1	1537	HP:0000365	Hearing impairment
OMIM:615157	CYC1	1537	HP:0000709	Psychosis
OMIM:615157	CYC1	1537	HP:0002186	Apraxia
OMIM:615157	CYC1	1537	HP:0100543	Cognitive impairment
OMIM:615157	CYC1	1537	HP:0000722	Obsessive-compulsive behavior
OMIM:615157	CYC1	1537	HP:0001332	Dystonia
OMIM:615157	CYC1	1537	HP:0001347	Hyperreflexia
OMIM:615157	CYC1	1537	HP:0000738	Hallucinations
OMIM:615157	CYC1	1537	HP:0001324	Muscle weakness
OMIM:615157	CYC1	1537	HP:0001272	Cerebellar atrophy
OMIM:615157	CYC1	1537	HP:0001337	Tremor
OMIM:615157	CYC1	1537	HP:0000639	Nystagmus
OMIM:615157	CYC1	1537	HP:0001260	Dysarthria
OMIM:615157	CYC1	1537	HP:0002075	Dysdiadochokinesis
OMIM:615157	CYC1	1537	HP:0001310	Dysmetria
OMIM:615157	LYRM7	90624	HP:0002067	Bradykinesia
OMIM:615157	LYRM7	90624	HP:0001263	Global developmental delay
OMIM:615157	LYRM7	90624	HP:0000007	Autosomal recessive inheritance
OMIM:615157	LYRM7	90624	HP:0001618	Dysphonia
OMIM:615157	LYRM7	90624	HP:0002311	Incoordination
OMIM:615157	LYRM7	90624	HP:0000718	Aggressive behavior
OMIM:615157	LYRM7	90624	HP:0002180	Neurodegeneration
OMIM:615157	LYRM7	90624	HP:0000739	Anxiety
OMIM:615157	LYRM7	90624	HP:0002313	Spastic paraparesis
OMIM:615157	LYRM7	90624	HP:0003812	Phenotypic variability
OMIM:615157	LYRM7	90624	HP:0003487	Babinski sign
OMIM:615157	LYRM7	90624	HP:0002059	Cerebral atrophy
OMIM:615157	LYRM7	90624	HP:0003202	Skeletal muscle atrophy
OMIM:615157	LYRM7	90624	HP:0000365	Hearing impairment
OMIM:615157	LYRM7	90624	HP:0000709	Psychosis
OMIM:615157	LYRM7	90624	HP:0002186	Apraxia
OMIM:615157	LYRM7	90624	HP:0100543	Cognitive impairment
OMIM:615157	LYRM7	90624	HP:0000722	Obsessive-compulsive behavior
OMIM:615157	LYRM7	90624	HP:0001332	Dystonia
OMIM:615157	LYRM7	90624	HP:0001347	Hyperreflexia
OMIM:615157	LYRM7	90624	HP:0000738	Hallucinations
OMIM:615157	LYRM7	90624	HP:0001324	Muscle weakness
OMIM:615157	LYRM7	90624	HP:0001272	Cerebellar atrophy
OMIM:615157	LYRM7	90624	HP:0001337	Tremor
OMIM:615157	LYRM7	90624	HP:0000639	Nystagmus
OMIM:615157	LYRM7	90624	HP:0001260	Dysarthria
OMIM:615157	LYRM7	90624	HP:0002075	Dysdiadochokinesis
OMIM:615157	LYRM7	90624	HP:0001310	Dysmetria
OMIM:615157	UQCRB	7381	HP:0002067	Bradykinesia
OMIM:615157	UQCRB	7381	HP:0001263	Global developmental delay
OMIM:615157	UQCRB	7381	HP:0000007	Autosomal recessive inheritance
OMIM:615157	UQCRB	7381	HP:0001618	Dysphonia
OMIM:615157	UQCRB	7381	HP:0002311	Incoordination
OMIM:615157	UQCRB	7381	HP:0000718	Aggressive behavior
OMIM:615157	UQCRB	7381	HP:0002180	Neurodegeneration
OMIM:615157	UQCRB	7381	HP:0000739	Anxiety
OMIM:615157	UQCRB	7381	HP:0002313	Spastic paraparesis
OMIM:615157	UQCRB	7381	HP:0003812	Phenotypic variability
OMIM:615157	UQCRB	7381	HP:0003487	Babinski sign
OMIM:615157	UQCRB	7381	HP:0002059	Cerebral atrophy
OMIM:615157	UQCRB	7381	HP:0003202	Skeletal muscle atrophy
OMIM:615157	UQCRB	7381	HP:0000365	Hearing impairment
OMIM:615157	UQCRB	7381	HP:0000709	Psychosis
OMIM:615157	UQCRB	7381	HP:0002186	Apraxia
OMIM:615157	UQCRB	7381	HP:0100543	Cognitive impairment
OMIM:615157	UQCRB	7381	HP:0000722	Obsessive-compulsive behavior
OMIM:615157	UQCRB	7381	HP:0001332	Dystonia
OMIM:615157	UQCRB	7381	HP:0001347	Hyperreflexia
OMIM:615157	UQCRB	7381	HP:0000738	Hallucinations
OMIM:615157	UQCRB	7381	HP:0001324	Muscle weakness
OMIM:615157	UQCRB	7381	HP:0001272	Cerebellar atrophy
OMIM:615157	UQCRB	7381	HP:0001337	Tremor
OMIM:615157	UQCRB	7381	HP:0000639	Nystagmus
OMIM:615157	UQCRB	7381	HP:0001260	Dysarthria
OMIM:615157	UQCRB	7381	HP:0002075	Dysdiadochokinesis
OMIM:615157	UQCRB	7381	HP:0001310	Dysmetria
OMIM:615157	TTC19	54902	HP:0002067	Bradykinesia
OMIM:615157	TTC19	54902	HP:0001263	Global developmental delay
OMIM:615157	TTC19	54902	HP:0000007	Autosomal recessive inheritance
OMIM:615157	TTC19	54902	HP:0001618	Dysphonia
OMIM:615157	TTC19	54902	HP:0002311	Incoordination
OMIM:615157	TTC19	54902	HP:0000718	Aggressive behavior
OMIM:615157	TTC19	54902	HP:0002180	Neurodegeneration
OMIM:615157	TTC19	54902	HP:0000739	Anxiety
OMIM:615157	TTC19	54902	HP:0002313	Spastic paraparesis
OMIM:615157	TTC19	54902	HP:0003812	Phenotypic variability
OMIM:615157	TTC19	54902	HP:0003487	Babinski sign
OMIM:615157	TTC19	54902	HP:0002059	Cerebral atrophy
OMIM:615157	TTC19	54902	HP:0003202	Skeletal muscle atrophy
OMIM:615157	TTC19	54902	HP:0000365	Hearing impairment
OMIM:615157	TTC19	54902	HP:0000709	Psychosis
OMIM:615157	TTC19	54902	HP:0002186	Apraxia
OMIM:615157	TTC19	54902	HP:0100543	Cognitive impairment
OMIM:615157	TTC19	54902	HP:0000722	Obsessive-compulsive behavior
OMIM:615157	TTC19	54902	HP:0001332	Dystonia
OMIM:615157	TTC19	54902	HP:0001347	Hyperreflexia
OMIM:615157	TTC19	54902	HP:0000738	Hallucinations
OMIM:615157	TTC19	54902	HP:0001324	Muscle weakness
OMIM:615157	TTC19	54902	HP:0001272	Cerebellar atrophy
OMIM:615157	TTC19	54902	HP:0001337	Tremor
OMIM:615157	TTC19	54902	HP:0000639	Nystagmus
OMIM:615157	TTC19	54902	HP:0001260	Dysarthria
OMIM:615157	TTC19	54902	HP:0002075	Dysdiadochokinesis
OMIM:615157	TTC19	54902	HP:0001310	Dysmetria
OMIM:615157	CYTB	4519	HP:0002067	Bradykinesia
OMIM:615157	CYTB	4519	HP:0001263	Global developmental delay
OMIM:615157	CYTB	4519	HP:0000007	Autosomal recessive inheritance
OMIM:615157	CYTB	4519	HP:0001618	Dysphonia
OMIM:615157	CYTB	4519	HP:0002311	Incoordination
OMIM:615157	CYTB	4519	HP:0000718	Aggressive behavior
OMIM:615157	CYTB	4519	HP:0002180	Neurodegeneration
OMIM:615157	CYTB	4519	HP:0000739	Anxiety
OMIM:615157	CYTB	4519	HP:0002313	Spastic paraparesis
OMIM:615157	CYTB	4519	HP:0003812	Phenotypic variability
OMIM:615157	CYTB	4519	HP:0003487	Babinski sign
OMIM:615157	CYTB	4519	HP:0002059	Cerebral atrophy
OMIM:615157	CYTB	4519	HP:0003202	Skeletal muscle atrophy
OMIM:615157	CYTB	4519	HP:0000365	Hearing impairment
OMIM:615157	CYTB	4519	HP:0000709	Psychosis
OMIM:615157	CYTB	4519	HP:0002186	Apraxia
OMIM:615157	CYTB	4519	HP:0100543	Cognitive impairment
OMIM:615157	CYTB	4519	HP:0000722	Obsessive-compulsive behavior
OMIM:615157	CYTB	4519	HP:0001332	Dystonia
OMIM:615157	CYTB	4519	HP:0001347	Hyperreflexia
OMIM:615157	CYTB	4519	HP:0000738	Hallucinations
OMIM:615157	CYTB	4519	HP:0001324	Muscle weakness
OMIM:615157	CYTB	4519	HP:0001272	Cerebellar atrophy
OMIM:615157	CYTB	4519	HP:0001337	Tremor
OMIM:615157	CYTB	4519	HP:0000639	Nystagmus
OMIM:615157	CYTB	4519	HP:0001260	Dysarthria
OMIM:615157	CYTB	4519	HP:0002075	Dysdiadochokinesis
OMIM:615157	CYTB	4519	HP:0001310	Dysmetria
OMIM:615157	UQCC3	790955	HP:0002067	Bradykinesia
OMIM:615157	UQCC3	790955	HP:0001263	Global developmental delay
OMIM:615157	UQCC3	790955	HP:0000007	Autosomal recessive inheritance
OMIM:615157	UQCC3	790955	HP:0001618	Dysphonia
OMIM:615157	UQCC3	790955	HP:0002311	Incoordination
OMIM:615157	UQCC3	790955	HP:0000718	Aggressive behavior
OMIM:615157	UQCC3	790955	HP:0002180	Neurodegeneration
OMIM:615157	UQCC3	790955	HP:0000739	Anxiety
OMIM:615157	UQCC3	790955	HP:0002313	Spastic paraparesis
OMIM:615157	UQCC3	790955	HP:0003812	Phenotypic variability
OMIM:615157	UQCC3	790955	HP:0003487	Babinski sign
OMIM:615157	UQCC3	790955	HP:0002059	Cerebral atrophy
OMIM:615157	UQCC3	790955	HP:0003202	Skeletal muscle atrophy
OMIM:615157	UQCC3	790955	HP:0000365	Hearing impairment
OMIM:615157	UQCC3	790955	HP:0000709	Psychosis
OMIM:615157	UQCC3	790955	HP:0002186	Apraxia
OMIM:615157	UQCC3	790955	HP:0100543	Cognitive impairment
OMIM:615157	UQCC3	790955	HP:0000722	Obsessive-compulsive behavior
OMIM:615157	UQCC3	790955	HP:0001332	Dystonia
OMIM:615157	UQCC3	790955	HP:0001347	Hyperreflexia
OMIM:615157	UQCC3	790955	HP:0000738	Hallucinations
OMIM:615157	UQCC3	790955	HP:0001324	Muscle weakness
OMIM:615157	UQCC3	790955	HP:0001272	Cerebellar atrophy
OMIM:615157	UQCC3	790955	HP:0001337	Tremor
OMIM:615157	UQCC3	790955	HP:0000639	Nystagmus
OMIM:615157	UQCC3	790955	HP:0001260	Dysarthria
OMIM:615157	UQCC3	790955	HP:0002075	Dysdiadochokinesis
OMIM:615157	UQCC3	790955	HP:0001310	Dysmetria
OMIM:615157	BCS1L	617	HP:0002067	Bradykinesia
OMIM:615157	BCS1L	617	HP:0001263	Global developmental delay
OMIM:615157	BCS1L	617	HP:0000007	Autosomal recessive inheritance
OMIM:615157	BCS1L	617	HP:0001618	Dysphonia
OMIM:615157	BCS1L	617	HP:0002311	Incoordination
OMIM:615157	BCS1L	617	HP:0000718	Aggressive behavior
OMIM:615157	BCS1L	617	HP:0002180	Neurodegeneration
OMIM:615157	BCS1L	617	HP:0000739	Anxiety
OMIM:615157	BCS1L	617	HP:0002313	Spastic paraparesis
OMIM:615157	BCS1L	617	HP:0003812	Phenotypic variability
OMIM:615157	BCS1L	617	HP:0003487	Babinski sign
OMIM:615157	BCS1L	617	HP:0002059	Cerebral atrophy
OMIM:615157	BCS1L	617	HP:0003202	Skeletal muscle atrophy
OMIM:615157	BCS1L	617	HP:0000365	Hearing impairment
OMIM:615157	BCS1L	617	HP:0000709	Psychosis
OMIM:615157	BCS1L	617	HP:0002186	Apraxia
OMIM:615157	BCS1L	617	HP:0100543	Cognitive impairment
OMIM:615157	BCS1L	617	HP:0000722	Obsessive-compulsive behavior
OMIM:615157	BCS1L	617	HP:0001332	Dystonia
OMIM:615157	BCS1L	617	HP:0001347	Hyperreflexia
OMIM:615157	BCS1L	617	HP:0000738	Hallucinations
OMIM:615157	BCS1L	617	HP:0001324	Muscle weakness
OMIM:615157	BCS1L	617	HP:0001272	Cerebellar atrophy
OMIM:615157	BCS1L	617	HP:0001337	Tremor
OMIM:615157	BCS1L	617	HP:0000639	Nystagmus
OMIM:615157	BCS1L	617	HP:0001260	Dysarthria
OMIM:615157	BCS1L	617	HP:0002075	Dysdiadochokinesis
OMIM:615157	BCS1L	617	HP:0001310	Dysmetria
OMIM:615157	UQCRC2	7385	HP:0002067	Bradykinesia
OMIM:615157	UQCRC2	7385	HP:0001263	Global developmental delay
OMIM:615157	UQCRC2	7385	HP:0000007	Autosomal recessive inheritance
OMIM:615157	UQCRC2	7385	HP:0001618	Dysphonia
OMIM:615157	UQCRC2	7385	HP:0002311	Incoordination
OMIM:615157	UQCRC2	7385	HP:0000718	Aggressive behavior
OMIM:615157	UQCRC2	7385	HP:0002180	Neurodegeneration
OMIM:615157	UQCRC2	7385	HP:0000739	Anxiety
OMIM:615157	UQCRC2	7385	HP:0002313	Spastic paraparesis
OMIM:615157	UQCRC2	7385	HP:0003812	Phenotypic variability
OMIM:615157	UQCRC2	7385	HP:0003487	Babinski sign
OMIM:615157	UQCRC2	7385	HP:0002059	Cerebral atrophy
OMIM:615157	UQCRC2	7385	HP:0003202	Skeletal muscle atrophy
OMIM:615157	UQCRC2	7385	HP:0000365	Hearing impairment
OMIM:615157	UQCRC2	7385	HP:0000709	Psychosis
OMIM:615157	UQCRC2	7385	HP:0002186	Apraxia
OMIM:615157	UQCRC2	7385	HP:0100543	Cognitive impairment
OMIM:615157	UQCRC2	7385	HP:0000722	Obsessive-compulsive behavior
OMIM:615157	UQCRC2	7385	HP:0001332	Dystonia
OMIM:615157	UQCRC2	7385	HP:0001347	Hyperreflexia
OMIM:615157	UQCRC2	7385	HP:0000738	Hallucinations
OMIM:615157	UQCRC2	7385	HP:0001324	Muscle weakness
OMIM:615157	UQCRC2	7385	HP:0001272	Cerebellar atrophy
OMIM:615157	UQCRC2	7385	HP:0001337	Tremor
OMIM:615157	UQCRC2	7385	HP:0000639	Nystagmus
OMIM:615157	UQCRC2	7385	HP:0001260	Dysarthria
OMIM:615157	UQCRC2	7385	HP:0002075	Dysdiadochokinesis
OMIM:615157	UQCRC2	7385	HP:0001310	Dysmetria
OMIM:615157	UQCC2	84300	HP:0002067	Bradykinesia
OMIM:615157	UQCC2	84300	HP:0001263	Global developmental delay
OMIM:615157	UQCC2	84300	HP:0000007	Autosomal recessive inheritance
OMIM:615157	UQCC2	84300	HP:0001618	Dysphonia
OMIM:615157	UQCC2	84300	HP:0002311	Incoordination
OMIM:615157	UQCC2	84300	HP:0000718	Aggressive behavior
OMIM:615157	UQCC2	84300	HP:0002180	Neurodegeneration
OMIM:615157	UQCC2	84300	HP:0000739	Anxiety
OMIM:615157	UQCC2	84300	HP:0002313	Spastic paraparesis
OMIM:615157	UQCC2	84300	HP:0003812	Phenotypic variability
OMIM:615157	UQCC2	84300	HP:0003487	Babinski sign
OMIM:615157	UQCC2	84300	HP:0002059	Cerebral atrophy
OMIM:615157	UQCC2	84300	HP:0003202	Skeletal muscle atrophy
OMIM:615157	UQCC2	84300	HP:0000365	Hearing impairment
OMIM:615157	UQCC2	84300	HP:0000709	Psychosis
OMIM:615157	UQCC2	84300	HP:0002186	Apraxia
OMIM:615157	UQCC2	84300	HP:0100543	Cognitive impairment
OMIM:615157	UQCC2	84300	HP:0000722	Obsessive-compulsive behavior
OMIM:615157	UQCC2	84300	HP:0001332	Dystonia
OMIM:615157	UQCC2	84300	HP:0001347	Hyperreflexia
OMIM:615157	UQCC2	84300	HP:0000738	Hallucinations
OMIM:615157	UQCC2	84300	HP:0001324	Muscle weakness
OMIM:615157	UQCC2	84300	HP:0001272	Cerebellar atrophy
OMIM:615157	UQCC2	84300	HP:0001337	Tremor
OMIM:615157	UQCC2	84300	HP:0000639	Nystagmus
OMIM:615157	UQCC2	84300	HP:0001260	Dysarthria
OMIM:615157	UQCC2	84300	HP:0002075	Dysdiadochokinesis
OMIM:615157	UQCC2	84300	HP:0001310	Dysmetria
OMIM:184900	FBN1	2200	HP:0004322	Short stature
OMIM:184900	FBN1	2200	HP:0001371	Flexion contracture
OMIM:184900	FBN1	2200	HP:0001324	Muscle weakness
OMIM:184900	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:184900	FBN1	2200	HP:0001376	Limitation of joint mobility
OMIM:184900	FBN1	2200	HP:0009830	Peripheral neuropathy
OMIM:184900	FBN1	2200	HP:0009125	Lipodystrophy
ORPHANET:168829	BRCA1	672	HP:0002017	Nausea and vomiting
ORPHANET:168829	BRCA1	672	HP:0002027	Abdominal pain
ORPHANET:168829	BRCA1	672	HP:0001824	Weight loss
ORPHANET:168829	BRCA1	672	HP:0002019	Constipation
ORPHANET:168829	BRCA1	672	HP:0004298	Abnormality of the abdominal wall
ORPHANET:168829	BRCA1	672	HP:0100615	Ovarian neoplasm
OMIM:615552	SCN11A	11280	HP:0000006	Autosomal dominant inheritance
OMIM:614497	VSX2	338917	HP:0000006	Autosomal dominant inheritance
OMIM:614497	VSX2	338917	HP:0000568	Microphthalmia
OMIM:614497	TENM3	55714	HP:0000006	Autosomal dominant inheritance
OMIM:614497	TENM3	55714	HP:0000568	Microphthalmia
OMIM:614497	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:614497	SHH	6469	HP:0000568	Microphthalmia
OMIM:614497	GDF3	9573	HP:0000006	Autosomal dominant inheritance
OMIM:614497	GDF3	9573	HP:0000568	Microphthalmia
OMIM:614497	ABCB6	10058	HP:0000006	Autosomal dominant inheritance
OMIM:614497	ABCB6	10058	HP:0000568	Microphthalmia
OMIM:614497	GDF6	392255	HP:0000006	Autosomal dominant inheritance
OMIM:614497	GDF6	392255	HP:0000568	Microphthalmia
OMIM:614497	STRA6	64220	HP:0000006	Autosomal dominant inheritance
OMIM:614497	STRA6	64220	HP:0000568	Microphthalmia
OMIM:614497	RBP4	5950	HP:0000006	Autosomal dominant inheritance
OMIM:614497	RBP4	5950	HP:0000568	Microphthalmia
OMIM:303700	GUCA1A	2978	HP:0007703	Abnormality of retinal pigmentation
OMIM:303700	GUCA1A	2978	HP:0000613	Photophobia
OMIM:303700	GUCA1A	2978	HP:0001131	Corneal dystrophy
OMIM:303700	GUCA1A	2978	HP:0000551	Abnormality of color vision
OMIM:303700	GUCA1A	2978	HP:0000512	Abnormal electroretinogram
OMIM:303700	GUCA1A	2978	HP:0000639	Nystagmus
OMIM:303700	GUCA1A	2978	HP:0000545	Myopia
OMIM:303700	GUCA1A	2978	HP:0008002	Abnormality of macular pigmentation
OMIM:303700	GUCA1A	2978	HP:0000505	Visual impairment
OMIM:303700	GUCA1A	2978	HP:0001419	X-linked recessive inheritance
OMIM:303700	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:303700	OPN1LW	5956	HP:0007703	Abnormality of retinal pigmentation
OMIM:303700	OPN1LW	5956	HP:0000613	Photophobia
OMIM:303700	OPN1LW	5956	HP:0001131	Corneal dystrophy
OMIM:303700	OPN1LW	5956	HP:0000551	Abnormality of color vision
OMIM:303700	OPN1LW	5956	HP:0000512	Abnormal electroretinogram
OMIM:303700	OPN1LW	5956	HP:0000639	Nystagmus
OMIM:303700	OPN1LW	5956	HP:0000545	Myopia
OMIM:303700	OPN1LW	5956	HP:0008002	Abnormality of macular pigmentation
OMIM:303700	OPN1LW	5956	HP:0000505	Visual impairment
OMIM:303700	OPN1LW	5956	HP:0001419	X-linked recessive inheritance
OMIM:303700	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:303700	CNGB3	54714	HP:0007703	Abnormality of retinal pigmentation
OMIM:303700	CNGB3	54714	HP:0000613	Photophobia
OMIM:303700	CNGB3	54714	HP:0001131	Corneal dystrophy
OMIM:303700	CNGB3	54714	HP:0000551	Abnormality of color vision
OMIM:303700	CNGB3	54714	HP:0000512	Abnormal electroretinogram
OMIM:303700	CNGB3	54714	HP:0000639	Nystagmus
OMIM:303700	CNGB3	54714	HP:0000545	Myopia
OMIM:303700	CNGB3	54714	HP:0008002	Abnormality of macular pigmentation
OMIM:303700	CNGB3	54714	HP:0000505	Visual impairment
OMIM:303700	CNGB3	54714	HP:0001419	X-linked recessive inheritance
OMIM:303700	CNGB3	54714	HP:0007663	Reduced visual acuity
OMIM:303700	PDE6C	5146	HP:0007703	Abnormality of retinal pigmentation
OMIM:303700	PDE6C	5146	HP:0000613	Photophobia
OMIM:303700	PDE6C	5146	HP:0001131	Corneal dystrophy
OMIM:303700	PDE6C	5146	HP:0000551	Abnormality of color vision
OMIM:303700	PDE6C	5146	HP:0000512	Abnormal electroretinogram
OMIM:303700	PDE6C	5146	HP:0000639	Nystagmus
OMIM:303700	PDE6C	5146	HP:0000545	Myopia
OMIM:303700	PDE6C	5146	HP:0008002	Abnormality of macular pigmentation
OMIM:303700	PDE6C	5146	HP:0000505	Visual impairment
OMIM:303700	PDE6C	5146	HP:0001419	X-linked recessive inheritance
OMIM:303700	PDE6C	5146	HP:0007663	Reduced visual acuity
OMIM:303700	OPN1MW	2652	HP:0007703	Abnormality of retinal pigmentation
OMIM:303700	OPN1MW	2652	HP:0000613	Photophobia
OMIM:303700	OPN1MW	2652	HP:0001131	Corneal dystrophy
OMIM:303700	OPN1MW	2652	HP:0000551	Abnormality of color vision
OMIM:303700	OPN1MW	2652	HP:0000512	Abnormal electroretinogram
OMIM:303700	OPN1MW	2652	HP:0000639	Nystagmus
OMIM:303700	OPN1MW	2652	HP:0000545	Myopia
OMIM:303700	OPN1MW	2652	HP:0008002	Abnormality of macular pigmentation
OMIM:303700	OPN1MW	2652	HP:0000505	Visual impairment
OMIM:303700	OPN1MW	2652	HP:0001419	X-linked recessive inheritance
OMIM:303700	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:303700	GNAT2	2780	HP:0007703	Abnormality of retinal pigmentation
OMIM:303700	GNAT2	2780	HP:0000613	Photophobia
OMIM:303700	GNAT2	2780	HP:0001131	Corneal dystrophy
OMIM:303700	GNAT2	2780	HP:0000551	Abnormality of color vision
OMIM:303700	GNAT2	2780	HP:0000512	Abnormal electroretinogram
OMIM:303700	GNAT2	2780	HP:0000639	Nystagmus
OMIM:303700	GNAT2	2780	HP:0000545	Myopia
OMIM:303700	GNAT2	2780	HP:0008002	Abnormality of macular pigmentation
OMIM:303700	GNAT2	2780	HP:0000505	Visual impairment
OMIM:303700	GNAT2	2780	HP:0001419	X-linked recessive inheritance
OMIM:303700	GNAT2	2780	HP:0007663	Reduced visual acuity
OMIM:310400	MTM1	4534	HP:0003202	Skeletal muscle atrophy
OMIM:310400	MTM1	4534	HP:0000275	Narrow face
OMIM:310400	MTM1	4534	HP:0001250	Seizures
OMIM:310400	MTM1	4534	HP:0001371	Flexion contracture
OMIM:310400	MTM1	4534	HP:0000298	Mask-like facies
OMIM:310400	MTM1	4534	HP:0000508	Ptosis
OMIM:310400	MTM1	4534	HP:0001558	Decreased fetal movement
OMIM:310400	MTM1	4534	HP:0006829	Severe muscular hypotonia
OMIM:310400	MTM1	4534	HP:0000218	High palate
OMIM:310400	MTM1	4534	HP:0002650	Scoliosis
OMIM:310400	MTM1	4534	HP:0000544	External ophthalmoplegia
OMIM:310400	MTM1	4534	HP:0011308	Slender toe
OMIM:310400	MTM1	4534	HP:0003457	EMG abnormality
OMIM:310400	MTM1	4534	HP:0003324	Generalized muscle weakness
OMIM:310400	MTM1	4534	HP:0000238	Hydrocephalus
OMIM:310400	MTM1	4534	HP:0001284	Areflexia
OMIM:310400	MTM1	4534	HP:0000597	Ophthalmoparesis
OMIM:310400	MTM1	4534	HP:0001561	Polyhydramnios
OMIM:310400	MTM1	4534	HP:0000028	Cryptorchidism
OMIM:310400	MTM1	4534	HP:0001288	Gait disturbance
OMIM:310400	MTM1	4534	HP:0001252	Muscular hypotonia
OMIM:310400	MTM1	4534	HP:0011675	Arrhythmia
OMIM:310400	MTM1	4534	HP:0000256	Macrocephaly
OMIM:310400	MTM1	4534	HP:0001166	Arachnodactyly
OMIM:310400	MTM1	4534	HP:0000467	Neck muscle weakness
OMIM:310400	MTM1	4534	HP:0001410	Decreased liver function
OMIM:310400	MTM1	4534	HP:0001419	X-linked recessive inheritance
OMIM:310400	MTM1	4534	HP:0001315	Reduced tendon reflexes
OMIM:310400	MTM1	4534	HP:0002021	Pyloric stenosis
OMIM:310400	MTM1	4534	HP:0002093	Respiratory insufficiency
OMIM:310400	MTM1	4534	HP:0010628	Facial palsy
OMIM:310400	MTM1	4534	HP:0000276	Long face
OMIM:310400	MAMLD1	10046	HP:0003202	Skeletal muscle atrophy
OMIM:310400	MAMLD1	10046	HP:0000275	Narrow face
OMIM:310400	MAMLD1	10046	HP:0001250	Seizures
OMIM:310400	MAMLD1	10046	HP:0001371	Flexion contracture
OMIM:310400	MAMLD1	10046	HP:0000298	Mask-like facies
OMIM:310400	MAMLD1	10046	HP:0000508	Ptosis
OMIM:310400	MAMLD1	10046	HP:0001558	Decreased fetal movement
OMIM:310400	MAMLD1	10046	HP:0006829	Severe muscular hypotonia
OMIM:310400	MAMLD1	10046	HP:0000218	High palate
OMIM:310400	MAMLD1	10046	HP:0002650	Scoliosis
OMIM:310400	MAMLD1	10046	HP:0000544	External ophthalmoplegia
OMIM:310400	MAMLD1	10046	HP:0011308	Slender toe
OMIM:310400	MAMLD1	10046	HP:0003457	EMG abnormality
OMIM:310400	MAMLD1	10046	HP:0003324	Generalized muscle weakness
OMIM:310400	MAMLD1	10046	HP:0000238	Hydrocephalus
OMIM:310400	MAMLD1	10046	HP:0001284	Areflexia
OMIM:310400	MAMLD1	10046	HP:0000597	Ophthalmoparesis
OMIM:310400	MAMLD1	10046	HP:0001561	Polyhydramnios
OMIM:310400	MAMLD1	10046	HP:0000028	Cryptorchidism
OMIM:310400	MAMLD1	10046	HP:0001288	Gait disturbance
OMIM:310400	MAMLD1	10046	HP:0001252	Muscular hypotonia
OMIM:310400	MAMLD1	10046	HP:0011675	Arrhythmia
OMIM:310400	MAMLD1	10046	HP:0000256	Macrocephaly
OMIM:310400	MAMLD1	10046	HP:0001166	Arachnodactyly
OMIM:310400	MAMLD1	10046	HP:0000467	Neck muscle weakness
OMIM:310400	MAMLD1	10046	HP:0001410	Decreased liver function
OMIM:310400	MAMLD1	10046	HP:0001419	X-linked recessive inheritance
OMIM:310400	MAMLD1	10046	HP:0001315	Reduced tendon reflexes
OMIM:310400	MAMLD1	10046	HP:0002021	Pyloric stenosis
OMIM:310400	MAMLD1	10046	HP:0002093	Respiratory insufficiency
OMIM:310400	MAMLD1	10046	HP:0010628	Facial palsy
OMIM:310400	MAMLD1	10046	HP:0000276	Long face
OMIM:613280	SLC30A10	55532	HP:0001337	Tremor
OMIM:613280	SLC30A10	55532	HP:0001300	Parkinsonism
OMIM:613280	SLC30A10	55532	HP:0002063	Rigidity
OMIM:613280	SLC30A10	55532	HP:0003828	Variable expressivity
OMIM:613280	SLC30A10	55532	HP:0002067	Bradykinesia
OMIM:613280	SLC30A10	55532	HP:0007141	Sensorimotor neuropathy
OMIM:613280	SLC30A10	55532	HP:0001260	Dysarthria
OMIM:613280	SLC30A10	55532	HP:0001901	Polycythemia
OMIM:613280	SLC30A10	55532	HP:0001410	Decreased liver function
OMIM:613280	SLC30A10	55532	HP:0001394	Cirrhosis
OMIM:613280	SLC30A10	55532	HP:0002313	Spastic paraparesis
OMIM:613280	SLC30A10	55532	HP:0001332	Dystonia
OMIM:613280	SLC30A10	55532	HP:0000007	Autosomal recessive inheritance
OMIM:613280	SLC30A10	55532	HP:0002240	Hepatomegaly
OMIM:613280	SLC30A10	55532	HP:0002910	Elevated hepatic transaminases
OMIM:613280	SLC30A10	55532	HP:0002172	Postural instability
OMIM:304340	AP1S2	8905	HP:0000280	Coarse facial features
OMIM:304340	AP1S2	8905	HP:0001252	Muscular hypotonia
OMIM:304340	AP1S2	8905	HP:0000407	Sensorineural hearing impairment
OMIM:304340	AP1S2	8905	HP:0002650	Scoliosis
OMIM:304340	AP1S2	8905	HP:0000486	Strabismus
OMIM:304340	AP1S2	8905	HP:0001347	Hyperreflexia
OMIM:304340	AP1S2	8905	HP:0000238	Hydrocephalus
OMIM:304340	AP1S2	8905	HP:0001371	Flexion contracture
OMIM:304340	AP1S2	8905	HP:0001249	Intellectual disability
OMIM:304340	AP1S2	8905	HP:0002134	Abnormality of the basal ganglia
OMIM:304340	AP1S2	8905	HP:0001305	Dandy-Walker malformation
OMIM:304340	AP1S2	8905	HP:0000028	Cryptorchidism
OMIM:304340	AP1S2	8905	HP:0100716	Self-injurious behavior
OMIM:304340	AP1S2	8905	HP:0001257	Spasticity
OMIM:304340	AP1S2	8905	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:304340	AP1S2	8905	HP:0001263	Global developmental delay
OMIM:304340	AP1S2	8905	HP:0011001	Increased bone mineral density
OMIM:304340	AP1S2	8905	HP:0002120	Cerebral cortical atrophy
OMIM:304340	AP1S2	8905	HP:0001266	Choreoathetosis
OMIM:304340	AP1S2	8905	HP:0000256	Macrocephaly
OMIM:304340	AP1S2	8905	HP:0000276	Long face
OMIM:304340	AP1S2	8905	HP:0012471	Thick vermilion border
OMIM:304340	AP1S2	8905	HP:0000648	Optic atrophy
OMIM:304340	AP1S2	8905	HP:0001250	Seizures
OMIM:304340	AP1S2	8905	HP:0002514	Cerebral calcification
OMIM:304340	AP1S2	8905	HP:0000303	Mandibular prognathia
OMIM:304340	AP1S2	8905	HP:0011220	Prominent forehead
OMIM:304340	AP1S2	8905	HP:0000322	Short philtrum
OMIM:304340	AP1S2	8905	HP:0002066	Gait ataxia
OMIM:304340	AP1S2	8905	HP:0005101	High-frequency hearing impairment
OMIM:304340	AP1S2	8905	HP:0001382	Joint hypermobility
OMIM:304340	AP1S2	8905	HP:0000708	Behavioral abnormality
OMIM:304340	AP1S2	8905	HP:0002119	Ventriculomegaly
OMIM:304340	AP1S2	8905	HP:0001288	Gait disturbance
OMIM:304340	AP1S2	8905	HP:0004299	Hernia of the abdominal wall
OMIM:304340	AP1S2	8905	HP:0000154	Wide mouth
OMIM:304340	AP1S2	8905	HP:0000364	Hearing abnormality
OMIM:304340	AP1S2	8905	HP:0001417	X-linked inheritance
OMIM:304340	AP1S2	8905	HP:0000490	Deeply set eye
OMIM:304340	AP1S2	8905	HP:0004325	Decreased body weight
OMIM:304340	AP1S2	8905	HP:0000174	Abnormality of the palate
OMIM:304340	AP1S2	8905	HP:0004374	Hemiplegia/hemiparesis
OMIM:304340	AP1S2	8905	HP:0000448	Prominent nose
OMIM:304340	AP1S2	8905	HP:0002167	Neurological speech impairment
OMIM:304340	AP1S2	8905	HP:0100543	Cognitive impairment
OMIM:167000	CDH1	999	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:167000	CDH1	999	HP:0000006	Autosomal dominant inheritance
OMIM:167000	CDH1	999	HP:0100621	Dysgerminoma
OMIM:167000	CDH1	999	HP:0003002	Breast carcinoma
OMIM:167000	PIK3CA	5290	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:167000	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:167000	PIK3CA	5290	HP:0100621	Dysgerminoma
OMIM:167000	PIK3CA	5290	HP:0003002	Breast carcinoma
OMIM:167000	CTNNB1	1499	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:167000	CTNNB1	1499	HP:0000006	Autosomal dominant inheritance
OMIM:167000	CTNNB1	1499	HP:0100621	Dysgerminoma
OMIM:167000	CTNNB1	1499	HP:0003002	Breast carcinoma
OMIM:167000	PARK2	5071	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:167000	PARK2	5071	HP:0000006	Autosomal dominant inheritance
OMIM:167000	PARK2	5071	HP:0100621	Dysgerminoma
OMIM:167000	PARK2	5071	HP:0003002	Breast carcinoma
OMIM:167000	AKT1	207	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:167000	AKT1	207	HP:0000006	Autosomal dominant inheritance
OMIM:167000	AKT1	207	HP:0100621	Dysgerminoma
OMIM:167000	AKT1	207	HP:0003002	Breast carcinoma
OMIM:610599	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:610599	RLBP1	6017	HP:0000608	Macular degeneration
OMIM:610599	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:610599	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:610599	RLBP1	6017	HP:0000550	Undetectable electroretinogram
OMIM:610599	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:610599	SPATA7	55812	HP:0000608	Macular degeneration
OMIM:610599	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:610599	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:610599	SPATA7	55812	HP:0000550	Undetectable electroretinogram
OMIM:610599	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:610599	ARL6	84100	HP:0000608	Macular degeneration
OMIM:610599	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:610599	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:610599	ARL6	84100	HP:0000550	Undetectable electroretinogram
OMIM:610599	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:610599	CERKL	375298	HP:0000608	Macular degeneration
OMIM:610599	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:610599	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:610599	CERKL	375298	HP:0000550	Undetectable electroretinogram
OMIM:610599	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PRPF31	26121	HP:0000608	Macular degeneration
OMIM:610599	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:610599	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:610599	PRPF31	26121	HP:0000550	Undetectable electroretinogram
OMIM:610599	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:610599	TTC8	123016	HP:0000608	Macular degeneration
OMIM:610599	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:610599	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:610599	TTC8	123016	HP:0000550	Undetectable electroretinogram
OMIM:610599	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PROM1	8842	HP:0000608	Macular degeneration
OMIM:610599	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:610599	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:610599	PROM1	8842	HP:0000550	Undetectable electroretinogram
OMIM:610599	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:610599	LRAT	9227	HP:0000608	Macular degeneration
OMIM:610599	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:610599	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:610599	LRAT	9227	HP:0000550	Undetectable electroretinogram
OMIM:610599	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:610599	IFT140	9742	HP:0000608	Macular degeneration
OMIM:610599	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:610599	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:610599	IFT140	9742	HP:0000550	Undetectable electroretinogram
OMIM:610599	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:610599	BEST1	7439	HP:0000608	Macular degeneration
OMIM:610599	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:610599	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:610599	BEST1	7439	HP:0000550	Undetectable electroretinogram
OMIM:610599	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:610599	NEK2	4751	HP:0000608	Macular degeneration
OMIM:610599	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:610599	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:610599	NEK2	4751	HP:0000550	Undetectable electroretinogram
OMIM:610599	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:610599	ARL2BP	23568	HP:0000608	Macular degeneration
OMIM:610599	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:610599	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:610599	ARL2BP	23568	HP:0000550	Undetectable electroretinogram
OMIM:610599	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:610599	NR2E3	10002	HP:0000608	Macular degeneration
OMIM:610599	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:610599	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:610599	NR2E3	10002	HP:0000550	Undetectable electroretinogram
OMIM:610599	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:610599	EYS	346007	HP:0000608	Macular degeneration
OMIM:610599	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:610599	EYS	346007	HP:0000543	Optic disc pallor
OMIM:610599	EYS	346007	HP:0000550	Undetectable electroretinogram
OMIM:610599	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:610599	MAK	4117	HP:0000608	Macular degeneration
OMIM:610599	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:610599	MAK	4117	HP:0000543	Optic disc pallor
OMIM:610599	MAK	4117	HP:0000550	Undetectable electroretinogram
OMIM:610599	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:610599	SAG	6295	HP:0000608	Macular degeneration
OMIM:610599	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:610599	SAG	6295	HP:0000543	Optic disc pallor
OMIM:610599	SAG	6295	HP:0000550	Undetectable electroretinogram
OMIM:610599	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:610599	ABCA4	24	HP:0000608	Macular degeneration
OMIM:610599	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:610599	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:610599	ABCA4	24	HP:0000550	Undetectable electroretinogram
OMIM:610599	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PDE6A	5145	HP:0000608	Macular degeneration
OMIM:610599	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:610599	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:610599	PDE6A	5145	HP:0000550	Undetectable electroretinogram
OMIM:610599	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PDE6G	5148	HP:0000608	Macular degeneration
OMIM:610599	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:610599	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:610599	PDE6G	5148	HP:0000550	Undetectable electroretinogram
OMIM:610599	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:610599	IMPDH1	3614	HP:0000608	Macular degeneration
OMIM:610599	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:610599	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:610599	IMPDH1	3614	HP:0000550	Undetectable electroretinogram
OMIM:610599	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:610599	OFD1	8481	HP:0000608	Macular degeneration
OMIM:610599	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:610599	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:610599	OFD1	8481	HP:0000550	Undetectable electroretinogram
OMIM:610599	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:610599	GUCA1B	2979	HP:0000608	Macular degeneration
OMIM:610599	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:610599	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:610599	GUCA1B	2979	HP:0000550	Undetectable electroretinogram
OMIM:610599	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:610599	NRL	4901	HP:0000608	Macular degeneration
OMIM:610599	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:610599	NRL	4901	HP:0000543	Optic disc pallor
OMIM:610599	NRL	4901	HP:0000550	Undetectable electroretinogram
OMIM:610599	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PDE6B	5158	HP:0000608	Macular degeneration
OMIM:610599	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:610599	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:610599	PDE6B	5158	HP:0000550	Undetectable electroretinogram
OMIM:610599	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:610599	KLHL7	55975	HP:0000608	Macular degeneration
OMIM:610599	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:610599	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:610599	KLHL7	55975	HP:0000550	Undetectable electroretinogram
OMIM:610599	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PRPF4	9128	HP:0000608	Macular degeneration
OMIM:610599	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:610599	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:610599	PRPF4	9128	HP:0000550	Undetectable electroretinogram
OMIM:610599	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PRPF3	9129	HP:0000608	Macular degeneration
OMIM:610599	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:610599	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:610599	PRPF3	9129	HP:0000550	Undetectable electroretinogram
OMIM:610599	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:610599	FAM161A	84140	HP:0000608	Macular degeneration
OMIM:610599	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:610599	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:610599	FAM161A	84140	HP:0000550	Undetectable electroretinogram
OMIM:610599	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:610599	IFT172	26160	HP:0000608	Macular degeneration
OMIM:610599	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:610599	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:610599	IFT172	26160	HP:0000550	Undetectable electroretinogram
OMIM:610599	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:610599	KIZ	55857	HP:0000608	Macular degeneration
OMIM:610599	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:610599	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:610599	KIZ	55857	HP:0000550	Undetectable electroretinogram
OMIM:610599	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:610599	CDHR1	92211	HP:0000608	Macular degeneration
OMIM:610599	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:610599	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:610599	CDHR1	92211	HP:0000550	Undetectable electroretinogram
OMIM:610599	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:610599	ZNF408	79797	HP:0000608	Macular degeneration
OMIM:610599	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:610599	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:610599	ZNF408	79797	HP:0000550	Undetectable electroretinogram
OMIM:610599	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:610599	RBP3	5949	HP:0000608	Macular degeneration
OMIM:610599	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:610599	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:610599	RBP3	5949	HP:0000550	Undetectable electroretinogram
OMIM:610599	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:610599	HGSNAT	138050	HP:0000608	Macular degeneration
OMIM:610599	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:610599	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:610599	HGSNAT	138050	HP:0000550	Undetectable electroretinogram
OMIM:610599	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:610599	FSCN2	25794	HP:0000608	Macular degeneration
OMIM:610599	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:610599	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:610599	FSCN2	25794	HP:0000550	Undetectable electroretinogram
OMIM:610599	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PRCD	768206	HP:0000608	Macular degeneration
OMIM:610599	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:610599	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:610599	PRCD	768206	HP:0000550	Undetectable electroretinogram
OMIM:610599	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:610599	BBS2	583	HP:0000608	Macular degeneration
OMIM:610599	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:610599	BBS2	583	HP:0000543	Optic disc pallor
OMIM:610599	BBS2	583	HP:0000550	Undetectable electroretinogram
OMIM:610599	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:610599	RDH12	145226	HP:0000608	Macular degeneration
OMIM:610599	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:610599	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:610599	RDH12	145226	HP:0000550	Undetectable electroretinogram
OMIM:610599	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PRPH2	5961	HP:0000608	Macular degeneration
OMIM:610599	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:610599	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:610599	PRPH2	5961	HP:0000550	Undetectable electroretinogram
OMIM:610599	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:610599	DHDDS	79947	HP:0000608	Macular degeneration
OMIM:610599	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:610599	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:610599	DHDDS	79947	HP:0000550	Undetectable electroretinogram
OMIM:610599	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:610599	ROM1	6094	HP:0000608	Macular degeneration
OMIM:610599	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:610599	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:610599	ROM1	6094	HP:0000550	Undetectable electroretinogram
OMIM:610599	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:610599	C2ORF71	388939	HP:0000608	Macular degeneration
OMIM:610599	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:610599	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:610599	C2ORF71	388939	HP:0000550	Undetectable electroretinogram
OMIM:610599	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:610599	RP9	6100	HP:0000608	Macular degeneration
OMIM:610599	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:610599	RP9	6100	HP:0000543	Optic disc pallor
OMIM:610599	RP9	6100	HP:0000550	Undetectable electroretinogram
OMIM:610599	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PRPF6	24148	HP:0000608	Macular degeneration
OMIM:610599	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:610599	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:610599	PRPF6	24148	HP:0000550	Undetectable electroretinogram
OMIM:610599	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:610599	RP1	6101	HP:0000608	Macular degeneration
OMIM:610599	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:610599	RP1	6101	HP:0000543	Optic disc pallor
OMIM:610599	RP1	6101	HP:0000550	Undetectable electroretinogram
OMIM:610599	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:610599	RP2	6102	HP:0000608	Macular degeneration
OMIM:610599	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:610599	RP2	6102	HP:0000543	Optic disc pallor
OMIM:610599	RP2	6102	HP:0000550	Undetectable electroretinogram
OMIM:610599	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:610599	RPGR	6103	HP:0000608	Macular degeneration
OMIM:610599	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:610599	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:610599	RPGR	6103	HP:0000550	Undetectable electroretinogram
OMIM:610599	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:610599	SEMA4A	64218	HP:0000608	Macular degeneration
OMIM:610599	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:610599	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:610599	SEMA4A	64218	HP:0000550	Undetectable electroretinogram
OMIM:610599	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:610599	C8ORF37	157657	HP:0000608	Macular degeneration
OMIM:610599	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:610599	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:610599	C8ORF37	157657	HP:0000550	Undetectable electroretinogram
OMIM:610599	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:610599	IDH3B	3420	HP:0000608	Macular degeneration
OMIM:610599	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:610599	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:610599	IDH3B	3420	HP:0000550	Undetectable electroretinogram
OMIM:610599	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:610599	MERTK	10461	HP:0000608	Macular degeneration
OMIM:610599	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:610599	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:610599	MERTK	10461	HP:0000550	Undetectable electroretinogram
OMIM:610599	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:610599	PRPF8	10594	HP:0000608	Macular degeneration
OMIM:610599	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:610599	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:610599	PRPF8	10594	HP:0000550	Undetectable electroretinogram
OMIM:610599	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:610599	TOPORS	10210	HP:0000608	Macular degeneration
OMIM:610599	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:610599	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:610599	TOPORS	10210	HP:0000550	Undetectable electroretinogram
OMIM:610599	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:610599	USH2A	7399	HP:0000608	Macular degeneration
OMIM:610599	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:610599	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:610599	USH2A	7399	HP:0000550	Undetectable electroretinogram
OMIM:610599	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:610599	RPE65	6121	HP:0000608	Macular degeneration
OMIM:610599	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:610599	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:610599	RPE65	6121	HP:0000550	Undetectable electroretinogram
OMIM:610599	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:610599	CLRN1	7401	HP:0000608	Macular degeneration
OMIM:610599	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:610599	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:610599	CLRN1	7401	HP:0000550	Undetectable electroretinogram
OMIM:610599	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:610599	CNGB1	1258	HP:0000608	Macular degeneration
OMIM:610599	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:610599	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:610599	CNGB1	1258	HP:0000550	Undetectable electroretinogram
OMIM:610599	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:610599	RGR	5995	HP:0000608	Macular degeneration
OMIM:610599	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:610599	RGR	5995	HP:0000543	Optic disc pallor
OMIM:610599	RGR	5995	HP:0000550	Undetectable electroretinogram
OMIM:610599	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:610599	CNGA1	1259	HP:0000608	Macular degeneration
OMIM:610599	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:610599	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:610599	CNGA1	1259	HP:0000550	Undetectable electroretinogram
OMIM:610599	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:610599	TUB	7275	HP:0000608	Macular degeneration
OMIM:610599	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:610599	TUB	7275	HP:0000543	Optic disc pallor
OMIM:610599	TUB	7275	HP:0000550	Undetectable electroretinogram
OMIM:610599	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:610599	SNRNP200	23020	HP:0000608	Macular degeneration
OMIM:610599	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:610599	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:610599	SNRNP200	23020	HP:0000550	Undetectable electroretinogram
OMIM:610599	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:610599	SLC7A14	57709	HP:0000608	Macular degeneration
OMIM:610599	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:610599	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:610599	SLC7A14	57709	HP:0000550	Undetectable electroretinogram
OMIM:610599	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:610599	TULP1	7287	HP:0000608	Macular degeneration
OMIM:610599	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:610599	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:610599	TULP1	7287	HP:0000550	Undetectable electroretinogram
OMIM:610599	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:610599	RHO	6010	HP:0000608	Macular degeneration
OMIM:610599	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:610599	RHO	6010	HP:0000543	Optic disc pallor
OMIM:610599	RHO	6010	HP:0000550	Undetectable electroretinogram
OMIM:610599	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:610599	CA4	762	HP:0000608	Macular degeneration
OMIM:610599	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:610599	CA4	762	HP:0000543	Optic disc pallor
OMIM:610599	CA4	762	HP:0000550	Undetectable electroretinogram
OMIM:610599	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:610599	CRB1	23418	HP:0000608	Macular degeneration
OMIM:610599	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:610599	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:610599	CRB1	23418	HP:0000550	Undetectable electroretinogram
OMIM:610599	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:610599	IMPG2	50939	HP:0000608	Macular degeneration
OMIM:610599	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:610599	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:610599	IMPG2	50939	HP:0000550	Undetectable electroretinogram
OMIM:610599	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:610599	ZNF513	130557	HP:0000608	Macular degeneration
OMIM:610599	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:610599	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:610599	ZNF513	130557	HP:0000550	Undetectable electroretinogram
OMIM:610599	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:610599	CRX	1406	HP:0000608	Macular degeneration
OMIM:610599	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610599	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:610599	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:610599	CRX	1406	HP:0000543	Optic disc pallor
OMIM:610599	CRX	1406	HP:0000550	Undetectable electroretinogram
OMIM:612528	TSR2	90121	HP:0000316	Hypertelorism
OMIM:612528	TSR2	90121	HP:0001629	Ventricular septal defect
OMIM:612528	TSR2	90121	HP:0001972	Macrocytic anemia
OMIM:612528	TSR2	90121	HP:0001263	Global developmental delay
OMIM:612528	TSR2	90121	HP:0000369	Low-set ears
OMIM:612528	TSR2	90121	HP:0001882	Leukopenia
OMIM:612528	TSR2	90121	HP:0000047	Hypospadias
OMIM:612528	RPS17	6218	HP:0000316	Hypertelorism
OMIM:612528	RPS17	6218	HP:0001629	Ventricular septal defect
OMIM:612528	RPS17	6218	HP:0001972	Macrocytic anemia
OMIM:612528	RPS17	6218	HP:0001263	Global developmental delay
OMIM:612528	RPS17	6218	HP:0000369	Low-set ears
OMIM:612528	RPS17	6218	HP:0001882	Leukopenia
OMIM:612528	RPS17	6218	HP:0000047	Hypospadias
OMIM:612528	RPL26	6154	HP:0000316	Hypertelorism
OMIM:612528	RPL26	6154	HP:0001629	Ventricular septal defect
OMIM:612528	RPL26	6154	HP:0001972	Macrocytic anemia
OMIM:612528	RPL26	6154	HP:0001263	Global developmental delay
OMIM:612528	RPL26	6154	HP:0000369	Low-set ears
OMIM:612528	RPL26	6154	HP:0001882	Leukopenia
OMIM:612528	RPL26	6154	HP:0000047	Hypospadias
OMIM:612528	RPL5	6125	HP:0000316	Hypertelorism
OMIM:612528	RPL5	6125	HP:0001629	Ventricular septal defect
OMIM:612528	RPL5	6125	HP:0001972	Macrocytic anemia
OMIM:612528	RPL5	6125	HP:0001263	Global developmental delay
OMIM:612528	RPL5	6125	HP:0000369	Low-set ears
OMIM:612528	RPL5	6125	HP:0001882	Leukopenia
OMIM:612528	RPL5	6125	HP:0000047	Hypospadias
OMIM:612528	RPS19	6223	HP:0000316	Hypertelorism
OMIM:612528	RPS19	6223	HP:0001629	Ventricular septal defect
OMIM:612528	RPS19	6223	HP:0001972	Macrocytic anemia
OMIM:612528	RPS19	6223	HP:0001263	Global developmental delay
OMIM:612528	RPS19	6223	HP:0000369	Low-set ears
OMIM:612528	RPS19	6223	HP:0001882	Leukopenia
OMIM:612528	RPS19	6223	HP:0000047	Hypospadias
OMIM:612528	RPL35A	6165	HP:0000316	Hypertelorism
OMIM:612528	RPL35A	6165	HP:0001629	Ventricular septal defect
OMIM:612528	RPL35A	6165	HP:0001972	Macrocytic anemia
OMIM:612528	RPL35A	6165	HP:0001263	Global developmental delay
OMIM:612528	RPL35A	6165	HP:0000369	Low-set ears
OMIM:612528	RPL35A	6165	HP:0001882	Leukopenia
OMIM:612528	RPL35A	6165	HP:0000047	Hypospadias
OMIM:612528	RPS24	6229	HP:0000316	Hypertelorism
OMIM:612528	RPS24	6229	HP:0001629	Ventricular septal defect
OMIM:612528	RPS24	6229	HP:0001972	Macrocytic anemia
OMIM:612528	RPS24	6229	HP:0001263	Global developmental delay
OMIM:612528	RPS24	6229	HP:0000369	Low-set ears
OMIM:612528	RPS24	6229	HP:0001882	Leukopenia
OMIM:612528	RPS24	6229	HP:0000047	Hypospadias
OMIM:612528	RPL11	6135	HP:0000316	Hypertelorism
OMIM:612528	RPL11	6135	HP:0001629	Ventricular septal defect
OMIM:612528	RPL11	6135	HP:0001972	Macrocytic anemia
OMIM:612528	RPL11	6135	HP:0001263	Global developmental delay
OMIM:612528	RPL11	6135	HP:0000369	Low-set ears
OMIM:612528	RPL11	6135	HP:0001882	Leukopenia
OMIM:612528	RPL11	6135	HP:0000047	Hypospadias
OMIM:612528	RPS26	6231	HP:0000316	Hypertelorism
OMIM:612528	RPS26	6231	HP:0001629	Ventricular septal defect
OMIM:612528	RPS26	6231	HP:0001972	Macrocytic anemia
OMIM:612528	RPS26	6231	HP:0001263	Global developmental delay
OMIM:612528	RPS26	6231	HP:0000369	Low-set ears
OMIM:612528	RPS26	6231	HP:0001882	Leukopenia
OMIM:612528	RPS26	6231	HP:0000047	Hypospadias
OMIM:612528	RPS7	6201	HP:0000316	Hypertelorism
OMIM:612528	RPS7	6201	HP:0001629	Ventricular septal defect
OMIM:612528	RPS7	6201	HP:0001972	Macrocytic anemia
OMIM:612528	RPS7	6201	HP:0001263	Global developmental delay
OMIM:612528	RPS7	6201	HP:0000369	Low-set ears
OMIM:612528	RPS7	6201	HP:0001882	Leukopenia
OMIM:612528	RPS7	6201	HP:0000047	Hypospadias
OMIM:612528	RPL15	6138	HP:0000316	Hypertelorism
OMIM:612528	RPL15	6138	HP:0001629	Ventricular septal defect
OMIM:612528	RPL15	6138	HP:0001972	Macrocytic anemia
OMIM:612528	RPL15	6138	HP:0001263	Global developmental delay
OMIM:612528	RPL15	6138	HP:0000369	Low-set ears
OMIM:612528	RPL15	6138	HP:0001882	Leukopenia
OMIM:612528	RPL15	6138	HP:0000047	Hypospadias
OMIM:612528	RPS28	6234	HP:0000316	Hypertelorism
OMIM:612528	RPS28	6234	HP:0001629	Ventricular septal defect
OMIM:612528	RPS28	6234	HP:0001972	Macrocytic anemia
OMIM:612528	RPS28	6234	HP:0001263	Global developmental delay
OMIM:612528	RPS28	6234	HP:0000369	Low-set ears
OMIM:612528	RPS28	6234	HP:0001882	Leukopenia
OMIM:612528	RPS28	6234	HP:0000047	Hypospadias
OMIM:612528	RPS29	6235	HP:0000316	Hypertelorism
OMIM:612528	RPS29	6235	HP:0001629	Ventricular septal defect
OMIM:612528	RPS29	6235	HP:0001972	Macrocytic anemia
OMIM:612528	RPS29	6235	HP:0001263	Global developmental delay
OMIM:612528	RPS29	6235	HP:0000369	Low-set ears
OMIM:612528	RPS29	6235	HP:0001882	Leukopenia
OMIM:612528	RPS29	6235	HP:0000047	Hypospadias
OMIM:612528	RPS10	6204	HP:0000316	Hypertelorism
OMIM:612528	RPS10	6204	HP:0001629	Ventricular septal defect
OMIM:612528	RPS10	6204	HP:0001972	Macrocytic anemia
OMIM:612528	RPS10	6204	HP:0001263	Global developmental delay
OMIM:612528	RPS10	6204	HP:0000369	Low-set ears
OMIM:612528	RPS10	6204	HP:0001882	Leukopenia
OMIM:612528	RPS10	6204	HP:0000047	Hypospadias
OMIM:612528	GATA1	2623	HP:0000316	Hypertelorism
OMIM:612528	GATA1	2623	HP:0001629	Ventricular septal defect
OMIM:612528	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:612528	GATA1	2623	HP:0001263	Global developmental delay
OMIM:612528	GATA1	2623	HP:0000369	Low-set ears
OMIM:612528	GATA1	2623	HP:0001882	Leukopenia
OMIM:612528	GATA1	2623	HP:0000047	Hypospadias
OMIM:253400	SMN1	6606	HP:0003394	Muscle cramps
OMIM:253400	SMN1	6606	HP:0002398	Degeneration of anterior horn cells
OMIM:253400	SMN1	6606	HP:0003676	Progressive
OMIM:253400	SMN1	6606	HP:0000007	Autosomal recessive inheritance
OMIM:253400	SMN1	6606	HP:0007269	Spinal muscular atrophy
OMIM:253400	SMN1	6606	HP:0001308	Tongue fasciculations
OMIM:253400	SMN1	6606	HP:0003457	EMG abnormality
OMIM:253400	SMN1	6606	HP:0001265	Hyporeflexia
OMIM:253400	SMN1	6606	HP:0001324	Muscle weakness
OMIM:253400	SMN2	6607	HP:0003394	Muscle cramps
OMIM:253400	SMN2	6607	HP:0002398	Degeneration of anterior horn cells
OMIM:253400	SMN2	6607	HP:0003676	Progressive
OMIM:253400	SMN2	6607	HP:0000007	Autosomal recessive inheritance
OMIM:253400	SMN2	6607	HP:0007269	Spinal muscular atrophy
OMIM:253400	SMN2	6607	HP:0001308	Tongue fasciculations
OMIM:253400	SMN2	6607	HP:0003457	EMG abnormality
OMIM:253400	SMN2	6607	HP:0001265	Hyporeflexia
OMIM:253400	SMN2	6607	HP:0001324	Muscle weakness
OMIM:253400	NAIP	4671	HP:0003394	Muscle cramps
OMIM:253400	NAIP	4671	HP:0002398	Degeneration of anterior horn cells
OMIM:253400	NAIP	4671	HP:0003676	Progressive
OMIM:253400	NAIP	4671	HP:0000007	Autosomal recessive inheritance
OMIM:253400	NAIP	4671	HP:0007269	Spinal muscular atrophy
OMIM:253400	NAIP	4671	HP:0001308	Tongue fasciculations
OMIM:253400	NAIP	4671	HP:0003457	EMG abnormality
OMIM:253400	NAIP	4671	HP:0001265	Hyporeflexia
OMIM:253400	NAIP	4671	HP:0001324	Muscle weakness
OMIM:613038	GLI2	2736	HP:0000463	Anteverted nares
OMIM:613038	GLI2	2736	HP:0003196	Short nose
OMIM:613038	GLI2	2736	HP:0005280	Depressed nasal bridge
OMIM:613038	GLI2	2736	HP:0002007	Frontal bossing
OMIM:613038	GLI2	2736	HP:0004322	Short stature
OMIM:613038	GLI2	2736	HP:0000821	Hypothyroidism
OMIM:613038	GLI2	2736	HP:0000490	Deeply set eye
OMIM:613038	GLI2	2736	HP:0006579	Prolonged neonatal jaundice
OMIM:613038	GLI2	2736	HP:0000272	Malar flattening
OMIM:613038	GLI2	2736	HP:0000007	Autosomal recessive inheritance
OMIM:613038	GLI2	2736	HP:0001249	Intellectual disability
OMIM:613038	GLI2	2736	HP:0011220	Prominent forehead
OMIM:613038	GLI2	2736	HP:0000270	Delayed cranial suture closure
OMIM:613038	GLI2	2736	HP:0001252	Muscular hypotonia
OMIM:613038	GLI2	2736	HP:0000006	Autosomal dominant inheritance
OMIM:613038	GLI2	2736	HP:0000158	Macroglossia
OMIM:613038	GLI2	2736	HP:0011800	Hypoplasia of midface
OMIM:613038	HESX1	8820	HP:0000463	Anteverted nares
OMIM:613038	HESX1	8820	HP:0003196	Short nose
OMIM:613038	HESX1	8820	HP:0005280	Depressed nasal bridge
OMIM:613038	HESX1	8820	HP:0002007	Frontal bossing
OMIM:613038	HESX1	8820	HP:0004322	Short stature
OMIM:613038	HESX1	8820	HP:0000821	Hypothyroidism
OMIM:613038	HESX1	8820	HP:0000490	Deeply set eye
OMIM:613038	HESX1	8820	HP:0006579	Prolonged neonatal jaundice
OMIM:613038	HESX1	8820	HP:0000272	Malar flattening
OMIM:613038	HESX1	8820	HP:0000007	Autosomal recessive inheritance
OMIM:613038	HESX1	8820	HP:0001249	Intellectual disability
OMIM:613038	HESX1	8820	HP:0011220	Prominent forehead
OMIM:613038	HESX1	8820	HP:0000270	Delayed cranial suture closure
OMIM:613038	HESX1	8820	HP:0001252	Muscular hypotonia
OMIM:613038	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:613038	HESX1	8820	HP:0000158	Macroglossia
OMIM:613038	HESX1	8820	HP:0011800	Hypoplasia of midface
OMIM:613038	OTX2	5015	HP:0000463	Anteverted nares
OMIM:613038	OTX2	5015	HP:0003196	Short nose
OMIM:613038	OTX2	5015	HP:0005280	Depressed nasal bridge
OMIM:613038	OTX2	5015	HP:0002007	Frontal bossing
OMIM:613038	OTX2	5015	HP:0004322	Short stature
OMIM:613038	OTX2	5015	HP:0000821	Hypothyroidism
OMIM:613038	OTX2	5015	HP:0000490	Deeply set eye
OMIM:613038	OTX2	5015	HP:0006579	Prolonged neonatal jaundice
OMIM:613038	OTX2	5015	HP:0000272	Malar flattening
OMIM:613038	OTX2	5015	HP:0000007	Autosomal recessive inheritance
OMIM:613038	OTX2	5015	HP:0001249	Intellectual disability
OMIM:613038	OTX2	5015	HP:0011220	Prominent forehead
OMIM:613038	OTX2	5015	HP:0000270	Delayed cranial suture closure
OMIM:613038	OTX2	5015	HP:0001252	Muscular hypotonia
OMIM:613038	OTX2	5015	HP:0000006	Autosomal dominant inheritance
OMIM:613038	OTX2	5015	HP:0000158	Macroglossia
OMIM:613038	OTX2	5015	HP:0011800	Hypoplasia of midface
OMIM:613038	POU1F1	5449	HP:0000463	Anteverted nares
OMIM:613038	POU1F1	5449	HP:0003196	Short nose
OMIM:613038	POU1F1	5449	HP:0005280	Depressed nasal bridge
OMIM:613038	POU1F1	5449	HP:0002007	Frontal bossing
OMIM:613038	POU1F1	5449	HP:0004322	Short stature
OMIM:613038	POU1F1	5449	HP:0000821	Hypothyroidism
OMIM:613038	POU1F1	5449	HP:0000490	Deeply set eye
OMIM:613038	POU1F1	5449	HP:0006579	Prolonged neonatal jaundice
OMIM:613038	POU1F1	5449	HP:0000272	Malar flattening
OMIM:613038	POU1F1	5449	HP:0000007	Autosomal recessive inheritance
OMIM:613038	POU1F1	5449	HP:0001249	Intellectual disability
OMIM:613038	POU1F1	5449	HP:0011220	Prominent forehead
OMIM:613038	POU1F1	5449	HP:0000270	Delayed cranial suture closure
OMIM:613038	POU1F1	5449	HP:0001252	Muscular hypotonia
OMIM:613038	POU1F1	5449	HP:0000006	Autosomal dominant inheritance
OMIM:613038	POU1F1	5449	HP:0000158	Macroglossia
OMIM:613038	POU1F1	5449	HP:0011800	Hypoplasia of midface
OMIM:613038	PROP1	5626	HP:0000463	Anteverted nares
OMIM:613038	PROP1	5626	HP:0003196	Short nose
OMIM:613038	PROP1	5626	HP:0005280	Depressed nasal bridge
OMIM:613038	PROP1	5626	HP:0002007	Frontal bossing
OMIM:613038	PROP1	5626	HP:0004322	Short stature
OMIM:613038	PROP1	5626	HP:0000821	Hypothyroidism
OMIM:613038	PROP1	5626	HP:0000490	Deeply set eye
OMIM:613038	PROP1	5626	HP:0006579	Prolonged neonatal jaundice
OMIM:613038	PROP1	5626	HP:0000272	Malar flattening
OMIM:613038	PROP1	5626	HP:0000007	Autosomal recessive inheritance
OMIM:613038	PROP1	5626	HP:0001249	Intellectual disability
OMIM:613038	PROP1	5626	HP:0011220	Prominent forehead
OMIM:613038	PROP1	5626	HP:0000270	Delayed cranial suture closure
OMIM:613038	PROP1	5626	HP:0001252	Muscular hypotonia
OMIM:613038	PROP1	5626	HP:0000006	Autosomal dominant inheritance
OMIM:613038	PROP1	5626	HP:0000158	Macroglossia
OMIM:613038	PROP1	5626	HP:0011800	Hypoplasia of midface
OMIM:613038	LHX4	89884	HP:0000463	Anteverted nares
OMIM:613038	LHX4	89884	HP:0003196	Short nose
OMIM:613038	LHX4	89884	HP:0005280	Depressed nasal bridge
OMIM:613038	LHX4	89884	HP:0002007	Frontal bossing
OMIM:613038	LHX4	89884	HP:0004322	Short stature
OMIM:613038	LHX4	89884	HP:0000821	Hypothyroidism
OMIM:613038	LHX4	89884	HP:0000490	Deeply set eye
OMIM:613038	LHX4	89884	HP:0006579	Prolonged neonatal jaundice
OMIM:613038	LHX4	89884	HP:0000272	Malar flattening
OMIM:613038	LHX4	89884	HP:0000007	Autosomal recessive inheritance
OMIM:613038	LHX4	89884	HP:0001249	Intellectual disability
OMIM:613038	LHX4	89884	HP:0011220	Prominent forehead
OMIM:613038	LHX4	89884	HP:0000270	Delayed cranial suture closure
OMIM:613038	LHX4	89884	HP:0001252	Muscular hypotonia
OMIM:613038	LHX4	89884	HP:0000006	Autosomal dominant inheritance
OMIM:613038	LHX4	89884	HP:0000158	Macroglossia
OMIM:613038	LHX4	89884	HP:0011800	Hypoplasia of midface
OMIM:615962	NR3C1	2908	HP:0001943	Hypoglycemia
OMIM:615962	NR3C1	2908	HP:0000789	Infertility
OMIM:615962	NR3C1	2908	HP:0000739	Anxiety
OMIM:615962	NR3C1	2908	HP:0000858	Menstrual irregularities
OMIM:615962	NR3C1	2908	HP:0000822	Hypertension
OMIM:611804	EPB41	2035	HP:0000006	Autosomal dominant inheritance
OMIM:611804	EPB41	2035	HP:0001878	Hemolytic anemia
OMIM:611804	GYPC	2995	HP:0000006	Autosomal dominant inheritance
OMIM:611804	GYPC	2995	HP:0001878	Hemolytic anemia
OMIM:611804	SPTA1	6708	HP:0000006	Autosomal dominant inheritance
OMIM:611804	SPTA1	6708	HP:0001878	Hemolytic anemia
OMIM:611804	SPTB	6710	HP:0000006	Autosomal dominant inheritance
OMIM:611804	SPTB	6710	HP:0001878	Hemolytic anemia
OMIM:614185	ADAMTSL2	9719	HP:0000006	Autosomal dominant inheritance
OMIM:614185	ADAMTSL2	9719	HP:0001773	Short foot
OMIM:614185	ADAMTSL2	9719	HP:0000219	Thin upper lip vermilion
OMIM:614185	ADAMTSL2	9719	HP:0003196	Short nose
OMIM:614185	ADAMTSL2	9719	HP:0001634	Mitral valve prolapse
OMIM:614185	ADAMTSL2	9719	HP:0002750	Delayed skeletal maturation
OMIM:614185	ADAMTSL2	9719	HP:0002240	Hepatomegaly
OMIM:614185	ADAMTSL2	9719	HP:0000316	Hypertelorism
OMIM:614185	ADAMTSL2	9719	HP:0004322	Short stature
OMIM:614185	ADAMTSL2	9719	HP:0001387	Joint stiffness
OMIM:614185	ADAMTSL2	9719	HP:0004279	Short palm
OMIM:614185	ADAMTSL2	9719	HP:0000293	Full cheeks
OMIM:614185	ADAMTSL2	9719	HP:0000319	Smooth philtrum
OMIM:614185	ADAMTSL2	9719	HP:0010579	Cone-shaped epiphysis
OMIM:614185	ADAMTSL2	9719	HP:0001653	Mitral regurgitation
OMIM:614185	ADAMTSL2	9719	HP:0001650	Aortic valve stenosis
OMIM:614185	ADAMTSL2	9719	HP:0002093	Respiratory insufficiency
OMIM:614185	ADAMTSL2	9719	HP:0000343	Long philtrum
OMIM:614185	ADAMTSL2	9719	HP:0001718	Mitral stenosis
OMIM:614185	ADAMTSL2	9719	HP:0003300	Ovoid vertebral bodies
OMIM:614185	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:614185	FBN1	2200	HP:0001773	Short foot
OMIM:614185	FBN1	2200	HP:0000219	Thin upper lip vermilion
OMIM:614185	FBN1	2200	HP:0003196	Short nose
OMIM:614185	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:614185	FBN1	2200	HP:0002750	Delayed skeletal maturation
OMIM:614185	FBN1	2200	HP:0002240	Hepatomegaly
OMIM:614185	FBN1	2200	HP:0000316	Hypertelorism
OMIM:614185	FBN1	2200	HP:0004322	Short stature
OMIM:614185	FBN1	2200	HP:0001387	Joint stiffness
OMIM:614185	FBN1	2200	HP:0004279	Short palm
OMIM:614185	FBN1	2200	HP:0000293	Full cheeks
OMIM:614185	FBN1	2200	HP:0000319	Smooth philtrum
OMIM:614185	FBN1	2200	HP:0010579	Cone-shaped epiphysis
OMIM:614185	FBN1	2200	HP:0001653	Mitral regurgitation
OMIM:614185	FBN1	2200	HP:0001650	Aortic valve stenosis
OMIM:614185	FBN1	2200	HP:0002093	Respiratory insufficiency
OMIM:614185	FBN1	2200	HP:0000343	Long philtrum
OMIM:614185	FBN1	2200	HP:0001718	Mitral stenosis
OMIM:614185	FBN1	2200	HP:0003300	Ovoid vertebral bodies
OMIM:609069	PTF1A	256297	HP:0000444	Convex nasal ridge
OMIM:609069	PTF1A	256297	HP:0001508	Failure to thrive
OMIM:609069	PTF1A	256297	HP:0000331	Short chin
OMIM:609069	PTF1A	256297	HP:0000768	Pectus carinatum
OMIM:609069	PTF1A	256297	HP:0000325	Triangular face
OMIM:609069	PTF1A	256297	HP:0000369	Low-set ears
OMIM:609069	PTF1A	256297	HP:0001250	Seizures
OMIM:609069	PTF1A	256297	HP:0001002	Decreased subcutaneous fat
OMIM:609069	PTF1A	256297	HP:0000347	Micrognathia
OMIM:609069	PTF1A	256297	HP:0000368	Low-set, posteriorly rotated ears
OMIM:609069	PTF1A	256297	HP:0000609	Optic nerve hypoplasia
OMIM:609069	PTF1A	256297	HP:0000252	Microcephaly
OMIM:609069	PTF1A	256297	HP:0001732	Abnormality of the pancreas
OMIM:609069	PTF1A	256297	HP:0000648	Optic atrophy
OMIM:609069	PTF1A	256297	HP:0000377	Abnormality of the pinna
OMIM:609069	PTF1A	256297	HP:0005978	Type II diabetes mellitus
OMIM:609069	PTF1A	256297	HP:0001387	Joint stiffness
OMIM:613987	NOP10	55505	HP:0000007	Autosomal recessive inheritance
OMIM:613987	NOP10	55505	HP:0001876	Pancytopenia
OMIM:613987	NOP10	55505	HP:0001249	Intellectual disability
OMIM:613987	NOP10	55505	HP:0001394	Cirrhosis
OMIM:613987	NOP10	55505	HP:0001873	Thrombocytopenia
OMIM:613987	NOP10	55505	HP:0008404	Nail dystrophy
OMIM:613987	NOP10	55505	HP:0002164	Nail dysplasia
OMIM:613987	NOP10	55505	HP:0002514	Cerebral calcification
OMIM:613987	NOP10	55505	HP:0001510	Growth delay
OMIM:613987	NOP10	55505	HP:0005528	Bone marrow hypocellularity
OMIM:613987	PARN	5073	HP:0000007	Autosomal recessive inheritance
OMIM:613987	PARN	5073	HP:0001876	Pancytopenia
OMIM:613987	PARN	5073	HP:0001249	Intellectual disability
OMIM:613987	PARN	5073	HP:0001394	Cirrhosis
OMIM:613987	PARN	5073	HP:0001873	Thrombocytopenia
OMIM:613987	PARN	5073	HP:0008404	Nail dystrophy
OMIM:613987	PARN	5073	HP:0002164	Nail dysplasia
OMIM:613987	PARN	5073	HP:0002514	Cerebral calcification
OMIM:613987	PARN	5073	HP:0001510	Growth delay
OMIM:613987	PARN	5073	HP:0005528	Bone marrow hypocellularity
OMIM:613987	NHP2	55651	HP:0000007	Autosomal recessive inheritance
OMIM:613987	NHP2	55651	HP:0001876	Pancytopenia
OMIM:613987	NHP2	55651	HP:0001249	Intellectual disability
OMIM:613987	NHP2	55651	HP:0001394	Cirrhosis
OMIM:613987	NHP2	55651	HP:0001873	Thrombocytopenia
OMIM:613987	NHP2	55651	HP:0008404	Nail dystrophy
OMIM:613987	NHP2	55651	HP:0002164	Nail dysplasia
OMIM:613987	NHP2	55651	HP:0002514	Cerebral calcification
OMIM:613987	NHP2	55651	HP:0001510	Growth delay
OMIM:613987	NHP2	55651	HP:0005528	Bone marrow hypocellularity
OMIM:613987	USB1	79650	HP:0000007	Autosomal recessive inheritance
OMIM:613987	USB1	79650	HP:0001876	Pancytopenia
OMIM:613987	USB1	79650	HP:0001249	Intellectual disability
OMIM:613987	USB1	79650	HP:0001394	Cirrhosis
OMIM:613987	USB1	79650	HP:0001873	Thrombocytopenia
OMIM:613987	USB1	79650	HP:0008404	Nail dystrophy
OMIM:613987	USB1	79650	HP:0002164	Nail dysplasia
OMIM:613987	USB1	79650	HP:0002514	Cerebral calcification
OMIM:613987	USB1	79650	HP:0001510	Growth delay
OMIM:613987	USB1	79650	HP:0005528	Bone marrow hypocellularity
OMIM:613987	TERC	7012	HP:0000007	Autosomal recessive inheritance
OMIM:613987	TERC	7012	HP:0001876	Pancytopenia
OMIM:613987	TERC	7012	HP:0001249	Intellectual disability
OMIM:613987	TERC	7012	HP:0001394	Cirrhosis
OMIM:613987	TERC	7012	HP:0001873	Thrombocytopenia
OMIM:613987	TERC	7012	HP:0008404	Nail dystrophy
OMIM:613987	TERC	7012	HP:0002164	Nail dysplasia
OMIM:613987	TERC	7012	HP:0002514	Cerebral calcification
OMIM:613987	TERC	7012	HP:0001510	Growth delay
OMIM:613987	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:613987	TINF2	26277	HP:0000007	Autosomal recessive inheritance
OMIM:613987	TINF2	26277	HP:0001876	Pancytopenia
OMIM:613987	TINF2	26277	HP:0001249	Intellectual disability
OMIM:613987	TINF2	26277	HP:0001394	Cirrhosis
OMIM:613987	TINF2	26277	HP:0001873	Thrombocytopenia
OMIM:613987	TINF2	26277	HP:0008404	Nail dystrophy
OMIM:613987	TINF2	26277	HP:0002164	Nail dysplasia
OMIM:613987	TINF2	26277	HP:0002514	Cerebral calcification
OMIM:613987	TINF2	26277	HP:0001510	Growth delay
OMIM:613987	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:613987	RTEL1	51750	HP:0000007	Autosomal recessive inheritance
OMIM:613987	RTEL1	51750	HP:0001876	Pancytopenia
OMIM:613987	RTEL1	51750	HP:0001249	Intellectual disability
OMIM:613987	RTEL1	51750	HP:0001394	Cirrhosis
OMIM:613987	RTEL1	51750	HP:0001873	Thrombocytopenia
OMIM:613987	RTEL1	51750	HP:0008404	Nail dystrophy
OMIM:613987	RTEL1	51750	HP:0002164	Nail dysplasia
OMIM:613987	RTEL1	51750	HP:0002514	Cerebral calcification
OMIM:613987	RTEL1	51750	HP:0001510	Growth delay
OMIM:613987	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
OMIM:613987	TERT	7015	HP:0000007	Autosomal recessive inheritance
OMIM:613987	TERT	7015	HP:0001876	Pancytopenia
OMIM:613987	TERT	7015	HP:0001249	Intellectual disability
OMIM:613987	TERT	7015	HP:0001394	Cirrhosis
OMIM:613987	TERT	7015	HP:0001873	Thrombocytopenia
OMIM:613987	TERT	7015	HP:0008404	Nail dystrophy
OMIM:613987	TERT	7015	HP:0002164	Nail dysplasia
OMIM:613987	TERT	7015	HP:0002514	Cerebral calcification
OMIM:613987	TERT	7015	HP:0001510	Growth delay
OMIM:613987	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:613987	DKC1	1736	HP:0000007	Autosomal recessive inheritance
OMIM:613987	DKC1	1736	HP:0001876	Pancytopenia
OMIM:613987	DKC1	1736	HP:0001249	Intellectual disability
OMIM:613987	DKC1	1736	HP:0001394	Cirrhosis
OMIM:613987	DKC1	1736	HP:0001873	Thrombocytopenia
OMIM:613987	DKC1	1736	HP:0008404	Nail dystrophy
OMIM:613987	DKC1	1736	HP:0002164	Nail dysplasia
OMIM:613987	DKC1	1736	HP:0002514	Cerebral calcification
OMIM:613987	DKC1	1736	HP:0001510	Growth delay
OMIM:613987	DKC1	1736	HP:0005528	Bone marrow hypocellularity
OMIM:613987	CTC1	80169	HP:0000007	Autosomal recessive inheritance
OMIM:613987	CTC1	80169	HP:0001876	Pancytopenia
OMIM:613987	CTC1	80169	HP:0001249	Intellectual disability
OMIM:613987	CTC1	80169	HP:0001394	Cirrhosis
OMIM:613987	CTC1	80169	HP:0001873	Thrombocytopenia
OMIM:613987	CTC1	80169	HP:0008404	Nail dystrophy
OMIM:613987	CTC1	80169	HP:0002164	Nail dysplasia
OMIM:613987	CTC1	80169	HP:0002514	Cerebral calcification
OMIM:613987	CTC1	80169	HP:0001510	Growth delay
OMIM:613987	CTC1	80169	HP:0005528	Bone marrow hypocellularity
OMIM:613987	WRAP53	55135	HP:0000007	Autosomal recessive inheritance
OMIM:613987	WRAP53	55135	HP:0001876	Pancytopenia
OMIM:613987	WRAP53	55135	HP:0001249	Intellectual disability
OMIM:613987	WRAP53	55135	HP:0001394	Cirrhosis
OMIM:613987	WRAP53	55135	HP:0001873	Thrombocytopenia
OMIM:613987	WRAP53	55135	HP:0008404	Nail dystrophy
OMIM:613987	WRAP53	55135	HP:0002164	Nail dysplasia
OMIM:613987	WRAP53	55135	HP:0002514	Cerebral calcification
OMIM:613987	WRAP53	55135	HP:0001510	Growth delay
OMIM:613987	WRAP53	55135	HP:0005528	Bone marrow hypocellularity
ORPHANET:869	AAAS	8086	HP:0000612	Iris coloboma
ORPHANET:869	AAAS	8086	HP:0000648	Optic atrophy
ORPHANET:869	AAAS	8086	HP:0000407	Sensorineural hearing impairment
ORPHANET:869	AAAS	8086	HP:0000982	Palmoplantar keratoderma
ORPHANET:869	AAAS	8086	HP:0002311	Incoordination
ORPHANET:869	AAAS	8086	HP:0004322	Short stature
ORPHANET:869	AAAS	8086	HP:0002093	Respiratory insufficiency
ORPHANET:869	AAAS	8086	HP:0007440	Generalized hyperpigmentation
ORPHANET:869	AAAS	8086	HP:0001250	Seizures
ORPHANET:869	AAAS	8086	HP:0008207	Primary adrenal insufficiency
ORPHANET:869	AAAS	8086	HP:0000252	Microcephaly
ORPHANET:869	AAAS	8086	HP:0000505	Visual impairment
ORPHANET:869	AAAS	8086	HP:0002376	Developmental regression
ORPHANET:869	AAAS	8086	HP:0000830	Anterior hypopituitarism
ORPHANET:869	AAAS	8086	HP:0001252	Muscular hypotonia
ORPHANET:869	AAAS	8086	HP:0001347	Hyperreflexia
ORPHANET:869	GMPPA	29926	HP:0000612	Iris coloboma
ORPHANET:869	GMPPA	29926	HP:0000648	Optic atrophy
ORPHANET:869	GMPPA	29926	HP:0000407	Sensorineural hearing impairment
ORPHANET:869	GMPPA	29926	HP:0000982	Palmoplantar keratoderma
ORPHANET:869	GMPPA	29926	HP:0002311	Incoordination
ORPHANET:869	GMPPA	29926	HP:0004322	Short stature
ORPHANET:869	GMPPA	29926	HP:0002093	Respiratory insufficiency
ORPHANET:869	GMPPA	29926	HP:0007440	Generalized hyperpigmentation
ORPHANET:869	GMPPA	29926	HP:0001250	Seizures
ORPHANET:869	GMPPA	29926	HP:0008207	Primary adrenal insufficiency
ORPHANET:869	GMPPA	29926	HP:0000252	Microcephaly
ORPHANET:869	GMPPA	29926	HP:0000505	Visual impairment
ORPHANET:869	GMPPA	29926	HP:0002376	Developmental regression
ORPHANET:869	GMPPA	29926	HP:0000830	Anterior hypopituitarism
ORPHANET:869	GMPPA	29926	HP:0001252	Muscular hypotonia
ORPHANET:869	GMPPA	29926	HP:0001347	Hyperreflexia
OMIM:614381	POLR3B	55703	HP:0000007	Autosomal recessive inheritance
OMIM:614381	POLR3B	55703	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614381	POLR3B	55703	HP:0001260	Dysarthria
OMIM:614381	POLR3B	55703	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614381	POLR3B	55703	HP:0001256	Intellectual disability, mild
OMIM:614381	POLR3B	55703	HP:0001347	Hyperreflexia
OMIM:614381	POLR3B	55703	HP:0002415	Leukodystrophy
OMIM:614381	POLR3B	55703	HP:0002075	Dysdiadochokinesis
OMIM:614381	POLR3B	55703	HP:0001257	Spasticity
OMIM:614381	POLR3B	55703	HP:0000545	Myopia
OMIM:614381	POLR3B	55703	HP:0000668	Hypodontia
OMIM:614381	POLR3B	55703	HP:0001272	Cerebellar atrophy
OMIM:614381	POLR3B	55703	HP:0001310	Dysmetria
OMIM:614381	POLR3B	55703	HP:0006808	Cerebral hypomyelination
OMIM:614381	POLR3B	55703	HP:0000684	Delayed eruption of teeth
OMIM:614381	POLR3B	55703	HP:0002015	Dysphagia
OMIM:614381	POLR3B	55703	HP:0001151	Impaired horizontal smooth pursuit
OMIM:614381	POLR3A	11128	HP:0000007	Autosomal recessive inheritance
OMIM:614381	POLR3A	11128	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614381	POLR3A	11128	HP:0001260	Dysarthria
OMIM:614381	POLR3A	11128	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614381	POLR3A	11128	HP:0001256	Intellectual disability, mild
OMIM:614381	POLR3A	11128	HP:0001347	Hyperreflexia
OMIM:614381	POLR3A	11128	HP:0002415	Leukodystrophy
OMIM:614381	POLR3A	11128	HP:0002075	Dysdiadochokinesis
OMIM:614381	POLR3A	11128	HP:0001257	Spasticity
OMIM:614381	POLR3A	11128	HP:0000545	Myopia
OMIM:614381	POLR3A	11128	HP:0000668	Hypodontia
OMIM:614381	POLR3A	11128	HP:0001272	Cerebellar atrophy
OMIM:614381	POLR3A	11128	HP:0001310	Dysmetria
OMIM:614381	POLR3A	11128	HP:0006808	Cerebral hypomyelination
OMIM:614381	POLR3A	11128	HP:0000684	Delayed eruption of teeth
OMIM:614381	POLR3A	11128	HP:0002015	Dysphagia
OMIM:614381	POLR3A	11128	HP:0001151	Impaired horizontal smooth pursuit
OMIM:614381	POLR1C	9533	HP:0000007	Autosomal recessive inheritance
OMIM:614381	POLR1C	9533	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614381	POLR1C	9533	HP:0001260	Dysarthria
OMIM:614381	POLR1C	9533	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614381	POLR1C	9533	HP:0001256	Intellectual disability, mild
OMIM:614381	POLR1C	9533	HP:0001347	Hyperreflexia
OMIM:614381	POLR1C	9533	HP:0002415	Leukodystrophy
OMIM:614381	POLR1C	9533	HP:0002075	Dysdiadochokinesis
OMIM:614381	POLR1C	9533	HP:0001257	Spasticity
OMIM:614381	POLR1C	9533	HP:0000545	Myopia
OMIM:614381	POLR1C	9533	HP:0000668	Hypodontia
OMIM:614381	POLR1C	9533	HP:0001272	Cerebellar atrophy
OMIM:614381	POLR1C	9533	HP:0001310	Dysmetria
OMIM:614381	POLR1C	9533	HP:0006808	Cerebral hypomyelination
OMIM:614381	POLR1C	9533	HP:0000684	Delayed eruption of teeth
OMIM:614381	POLR1C	9533	HP:0002015	Dysphagia
OMIM:614381	POLR1C	9533	HP:0001151	Impaired horizontal smooth pursuit
OMIM:214700	SLC26A3	1811	HP:0001622	Premature birth
OMIM:214700	SLC26A3	1811	HP:0001561	Polyhydramnios
OMIM:214700	SLC26A3	1811	HP:0001510	Growth delay
OMIM:214700	SLC26A3	1811	HP:0001944	Dehydration
OMIM:214700	SLC26A3	1811	HP:0001508	Failure to thrive
OMIM:214700	SLC26A3	1811	HP:0001626	Abnormality of the cardiovascular system
OMIM:214700	SLC26A3	1811	HP:0003270	Abdominal distention
OMIM:214700	SLC26A3	1811	HP:0002014	Diarrhea
OMIM:214700	SLC26A3	1811	HP:0000007	Autosomal recessive inheritance
OMIM:604233	STX1B	112755	HP:0000006	Autosomal dominant inheritance
OMIM:604233	STX1B	112755	HP:0002121	Absence seizures
OMIM:604233	STX1B	112755	HP:0002069	Generalized tonic-clonic seizures
OMIM:604233	STX1B	112755	HP:0010819	Atonic seizures
OMIM:604233	STX1B	112755	HP:0002373	Febrile seizures
OMIM:604233	STX1B	112755	HP:0003829	Incomplete penetrance
OMIM:604233	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:604233	SCN1A	6323	HP:0002121	Absence seizures
OMIM:604233	SCN1A	6323	HP:0002069	Generalized tonic-clonic seizures
OMIM:604233	SCN1A	6323	HP:0010819	Atonic seizures
OMIM:604233	SCN1A	6323	HP:0002373	Febrile seizures
OMIM:604233	SCN1A	6323	HP:0003829	Incomplete penetrance
OMIM:604233	GABRD	2563	HP:0000006	Autosomal dominant inheritance
OMIM:604233	GABRD	2563	HP:0002121	Absence seizures
OMIM:604233	GABRD	2563	HP:0002069	Generalized tonic-clonic seizures
OMIM:604233	GABRD	2563	HP:0010819	Atonic seizures
OMIM:604233	GABRD	2563	HP:0002373	Febrile seizures
OMIM:604233	GABRD	2563	HP:0003829	Incomplete penetrance
OMIM:604233	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:604233	SCN1B	6324	HP:0002121	Absence seizures
OMIM:604233	SCN1B	6324	HP:0002069	Generalized tonic-clonic seizures
OMIM:604233	SCN1B	6324	HP:0010819	Atonic seizures
OMIM:604233	SCN1B	6324	HP:0002373	Febrile seizures
OMIM:604233	SCN1B	6324	HP:0003829	Incomplete penetrance
OMIM:604233	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:604233	SCN2A	6326	HP:0002121	Absence seizures
OMIM:604233	SCN2A	6326	HP:0002069	Generalized tonic-clonic seizures
OMIM:604233	SCN2A	6326	HP:0010819	Atonic seizures
OMIM:604233	SCN2A	6326	HP:0002373	Febrile seizures
OMIM:604233	SCN2A	6326	HP:0003829	Incomplete penetrance
OMIM:604233	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:604233	GABRG2	2566	HP:0002121	Absence seizures
OMIM:604233	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:604233	GABRG2	2566	HP:0010819	Atonic seizures
OMIM:604233	GABRG2	2566	HP:0002373	Febrile seizures
OMIM:604233	GABRG2	2566	HP:0003829	Incomplete penetrance
OMIM:604233	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:604233	SCN9A	6335	HP:0002121	Absence seizures
OMIM:604233	SCN9A	6335	HP:0002069	Generalized tonic-clonic seizures
OMIM:604233	SCN9A	6335	HP:0010819	Atonic seizures
OMIM:604233	SCN9A	6335	HP:0002373	Febrile seizures
OMIM:604233	SCN9A	6335	HP:0003829	Incomplete penetrance
OMIM:210900	BLM	641	HP:0001159	Syndactyly
OMIM:210900	BLM	641	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:210900	BLM	641	HP:0000252	Microcephaly
OMIM:210900	BLM	641	HP:0100543	Cognitive impairment
OMIM:210900	BLM	641	HP:0001909	Leukemia
OMIM:210900	BLM	641	HP:0001161	Hand polydactyly
OMIM:210900	BLM	641	HP:0007378	Neoplasm of the gastrointestinal tract
OMIM:210900	BLM	641	HP:0000268	Dolichocephaly
OMIM:210900	BLM	641	HP:0000411	Protruding ear
OMIM:210900	BLM	641	HP:0008897	Postnatal growth retardation
OMIM:210900	BLM	641	HP:0000448	Prominent nose
OMIM:210900	BLM	641	HP:0000275	Narrow face
OMIM:210900	BLM	641	HP:0002860	Squamous cell carcinoma
OMIM:210900	BLM	641	HP:0000960	Sacral dimple
OMIM:210900	BLM	641	HP:0007400	Irregular hyperpigmentation
OMIM:210900	BLM	641	HP:0000992	Cutaneous photosensitivity
OMIM:210900	BLM	641	HP:0002014	Diarrhea
OMIM:210900	BLM	641	HP:0000957	Cafe-au-lait spot
OMIM:210900	BLM	641	HP:0001328	Specific learning disability
OMIM:210900	BLM	641	HP:0000028	Cryptorchidism
OMIM:210900	BLM	641	HP:0001053	Hypopigmented skin patches
OMIM:210900	BLM	641	HP:0002665	Lymphoma
OMIM:210900	BLM	641	HP:0000007	Autosomal recessive inheritance
OMIM:210900	BLM	641	HP:0000246	Sinusitis
OMIM:210900	BLM	641	HP:0000027	Azoospermia
OMIM:210900	BLM	641	HP:0005978	Type II diabetes mellitus
OMIM:210900	BLM	641	HP:0008064	Ichthyosis
OMIM:210900	BLM	641	HP:0003220	Abnormality of chromosome stability
OMIM:210900	BLM	641	HP:0001511	Intrauterine growth retardation
OMIM:210900	BLM	641	HP:0001620	High pitched voice
OMIM:210900	BLM	641	HP:0001256	Intellectual disability, mild
OMIM:210900	BLM	641	HP:0000975	Hyperhidrosis
OMIM:210900	BLM	641	HP:0002750	Delayed skeletal maturation
OMIM:210900	BLM	641	HP:0004322	Short stature
OMIM:210900	BLM	641	HP:0000998	Hypertrichosis
OMIM:210900	BLM	641	HP:0000144	Decreased fertility
OMIM:210900	BLM	641	HP:0002110	Bronchiectasis
OMIM:210900	BLM	641	HP:0009804	Reduced number of teeth
OMIM:210900	BLM	641	HP:0004315	IgG deficiency
OMIM:210900	BLM	641	HP:0100585	Telangiectasia of the skin
OMIM:210900	BLM	641	HP:0000272	Malar flattening
OMIM:210900	BLM	641	HP:0006101	Finger syndactyly
OMIM:210900	BLM	641	HP:0008069	Neoplasm of the skin
OMIM:210900	BLM	641	HP:0000347	Micrognathia
OMIM:210900	BLM	641	HP:0002205	Recurrent respiratory infections
OMIM:210900	BLM	641	HP:0000377	Abnormality of the pinna
OMIM:210900	BLM	641	HP:0002488	Acute leukemia
OMIM:210900	BLM	641	HP:0003196	Short nose
OMIM:210900	BLM	641	HP:0004209	Clinodactyly of the 5th finger
OMIM:130060	COL1A1	1277	HP:0000272	Malar flattening
OMIM:130060	COL1A1	1277	HP:0000316	Hypertelorism
OMIM:130060	COL1A1	1277	HP:0002194	Delayed gross motor development
OMIM:130060	COL1A1	1277	HP:0001382	Joint hypermobility
OMIM:130060	COL1A1	1277	HP:0004322	Short stature
OMIM:130060	COL1A1	1277	HP:0002659	Increased susceptibility to fractures
OMIM:130060	COL1A1	1277	HP:0000987	Atypical scarring of skin
OMIM:130060	COL1A1	1277	HP:0001376	Limitation of joint mobility
OMIM:130060	COL1A1	1277	HP:0002808	Kyphosis
OMIM:130060	COL1A1	1277	HP:0004349	Reduced bone mineral density
OMIM:130060	COL1A1	1277	HP:0000286	Epicanthus
OMIM:130060	COL1A1	1277	HP:0000978	Bruising susceptibility
OMIM:130060	COL1A1	1277	HP:0005280	Depressed nasal bridge
OMIM:130060	COL1A1	1277	HP:0000938	Osteopenia
OMIM:130060	COL1A1	1277	HP:0000974	Hyperextensible skin
OMIM:130060	COL1A1	1277	HP:0011800	Hypoplasia of midface
OMIM:130060	COL1A1	1277	HP:0001388	Joint laxity
OMIM:130060	COL1A1	1277	HP:0003272	Abnormality of the hip bone
OMIM:130060	COL1A1	1277	HP:0004299	Hernia of the abdominal wall
OMIM:130060	COL1A1	1277	HP:0002167	Neurological speech impairment
OMIM:130060	COL1A1	1277	HP:0001373	Joint dislocation
OMIM:130060	COL1A1	1277	HP:0000347	Micrognathia
OMIM:130060	COL1A1	1277	HP:0001075	Atrophic scars
OMIM:130060	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:130060	COL1A1	1277	HP:0001252	Muscular hypotonia
OMIM:130060	COL1A1	1277	HP:0002650	Scoliosis
OMIM:130060	COL1A1	1277	HP:0001324	Muscle weakness
OMIM:130060	COL1A1	1277	HP:0000977	Soft skin
OMIM:130060	COL1A1	1277	HP:0000963	Thin skin
OMIM:130060	COL1A2	1278	HP:0000272	Malar flattening
OMIM:130060	COL1A2	1278	HP:0000316	Hypertelorism
OMIM:130060	COL1A2	1278	HP:0002194	Delayed gross motor development
OMIM:130060	COL1A2	1278	HP:0001382	Joint hypermobility
OMIM:130060	COL1A2	1278	HP:0004322	Short stature
OMIM:130060	COL1A2	1278	HP:0002659	Increased susceptibility to fractures
OMIM:130060	COL1A2	1278	HP:0000987	Atypical scarring of skin
OMIM:130060	COL1A2	1278	HP:0001376	Limitation of joint mobility
OMIM:130060	COL1A2	1278	HP:0002808	Kyphosis
OMIM:130060	COL1A2	1278	HP:0004349	Reduced bone mineral density
OMIM:130060	COL1A2	1278	HP:0000286	Epicanthus
OMIM:130060	COL1A2	1278	HP:0000978	Bruising susceptibility
OMIM:130060	COL1A2	1278	HP:0005280	Depressed nasal bridge
OMIM:130060	COL1A2	1278	HP:0000938	Osteopenia
OMIM:130060	COL1A2	1278	HP:0000974	Hyperextensible skin
OMIM:130060	COL1A2	1278	HP:0011800	Hypoplasia of midface
OMIM:130060	COL1A2	1278	HP:0001388	Joint laxity
OMIM:130060	COL1A2	1278	HP:0003272	Abnormality of the hip bone
OMIM:130060	COL1A2	1278	HP:0004299	Hernia of the abdominal wall
OMIM:130060	COL1A2	1278	HP:0002167	Neurological speech impairment
OMIM:130060	COL1A2	1278	HP:0001373	Joint dislocation
OMIM:130060	COL1A2	1278	HP:0000347	Micrognathia
OMIM:130060	COL1A2	1278	HP:0001075	Atrophic scars
OMIM:130060	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
OMIM:130060	COL1A2	1278	HP:0001252	Muscular hypotonia
OMIM:130060	COL1A2	1278	HP:0002650	Scoliosis
OMIM:130060	COL1A2	1278	HP:0001324	Muscle weakness
OMIM:130060	COL1A2	1278	HP:0000977	Soft skin
OMIM:130060	COL1A2	1278	HP:0000963	Thin skin
OMIM:186740	CD3G	917	HP:0000007	Autosomal recessive inheritance
OMIM:186740	CD3G	917	HP:0002721	Immunodeficiency
OMIM:145981	GNA11	2767	HP:0000787	Nephrolithiasis
OMIM:145981	GNA11	2767	HP:0001733	Pancreatitis
OMIM:145981	GNA11	2767	HP:0003072	Hypercalcemia
OMIM:145981	GNA11	2767	HP:0000934	Chondrocalcinosis
OMIM:145981	GNA11	2767	HP:0004398	Peptic ulcer
ORPHANET:221016	RECQL4	9401	HP:0000962	Hyperkeratosis
ORPHANET:221016	RECQL4	9401	HP:0000366	Abnormality of the nose
ORPHANET:221016	RECQL4	9401	HP:0002007	Frontal bossing
ORPHANET:221016	RECQL4	9401	HP:0007495	Prematurely aged appearance
ORPHANET:221016	RECQL4	9401	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHANET:221016	RECQL4	9401	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:221016	RECQL4	9401	HP:0100242	Sarcoma
ORPHANET:221016	RECQL4	9401	HP:0001597	Abnormality of the nail
ORPHANET:221016	RECQL4	9401	HP:0000078	Abnormality of the genital system
ORPHANET:221016	RECQL4	9401	HP:0000518	Cataract
ORPHANET:221016	RECQL4	9401	HP:0002863	Myelodysplasia
ORPHANET:221016	RECQL4	9401	HP:0008069	Neoplasm of the skin
ORPHANET:221016	RECQL4	9401	HP:0000534	Abnormality of the eyebrow
ORPHANET:221016	RECQL4	9401	HP:0002017	Nausea and vomiting
ORPHANET:221016	RECQL4	9401	HP:0004349	Reduced bone mineral density
ORPHANET:221016	RECQL4	9401	HP:0000164	Abnormality of the teeth
ORPHANET:221016	RECQL4	9401	HP:0002024	Malabsorption
ORPHANET:221016	RECQL4	9401	HP:0001874	Abnormality of neutrophils
ORPHANET:221016	RECQL4	9401	HP:0001903	Anemia
ORPHANET:221016	RECQL4	9401	HP:0011362	Abnormal hair quantity
OMIM:300033	FOXO4	4303	HP:0001909	Leukemia
OMIM:300033	FOXO4	4303	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:300033	FOXO4	4303	HP:0001417	X-linked inheritance
ORPHANET:65	AIPL1	23746	HP:0000365	Hearing impairment
ORPHANET:65	AIPL1	23746	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	AIPL1	23746	HP:0001250	Seizures
ORPHANET:65	AIPL1	23746	HP:0001252	Muscular hypotonia
ORPHANET:65	AIPL1	23746	HP:0100543	Cognitive impairment
ORPHANET:65	AIPL1	23746	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	AIPL1	23746	HP:0000505	Visual impairment
ORPHANET:65	AIPL1	23746	HP:0000512	Abnormal electroretinogram
ORPHANET:65	AIPL1	23746	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	AIPL1	23746	HP:0000518	Cataract
ORPHANET:65	AIPL1	23746	HP:0002084	Encephalocele
ORPHANET:65	AIPL1	23746	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	AIPL1	23746	HP:0000639	Nystagmus
ORPHANET:65	AIPL1	23746	HP:0000648	Optic atrophy
ORPHANET:65	AIPL1	23746	HP:0100689	Decreased corneal thickness
ORPHANET:65	NMNAT1	64802	HP:0000365	Hearing impairment
ORPHANET:65	NMNAT1	64802	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	NMNAT1	64802	HP:0001250	Seizures
ORPHANET:65	NMNAT1	64802	HP:0001252	Muscular hypotonia
ORPHANET:65	NMNAT1	64802	HP:0100543	Cognitive impairment
ORPHANET:65	NMNAT1	64802	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	NMNAT1	64802	HP:0000505	Visual impairment
ORPHANET:65	NMNAT1	64802	HP:0000512	Abnormal electroretinogram
ORPHANET:65	NMNAT1	64802	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	NMNAT1	64802	HP:0000518	Cataract
ORPHANET:65	NMNAT1	64802	HP:0002084	Encephalocele
ORPHANET:65	NMNAT1	64802	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	NMNAT1	64802	HP:0000639	Nystagmus
ORPHANET:65	NMNAT1	64802	HP:0000648	Optic atrophy
ORPHANET:65	NMNAT1	64802	HP:0100689	Decreased corneal thickness
ORPHANET:65	SPATA7	55812	HP:0000365	Hearing impairment
ORPHANET:65	SPATA7	55812	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	SPATA7	55812	HP:0001250	Seizures
ORPHANET:65	SPATA7	55812	HP:0001252	Muscular hypotonia
ORPHANET:65	SPATA7	55812	HP:0100543	Cognitive impairment
ORPHANET:65	SPATA7	55812	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	SPATA7	55812	HP:0000505	Visual impairment
ORPHANET:65	SPATA7	55812	HP:0000512	Abnormal electroretinogram
ORPHANET:65	SPATA7	55812	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	SPATA7	55812	HP:0000518	Cataract
ORPHANET:65	SPATA7	55812	HP:0002084	Encephalocele
ORPHANET:65	SPATA7	55812	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	SPATA7	55812	HP:0000639	Nystagmus
ORPHANET:65	SPATA7	55812	HP:0000648	Optic atrophy
ORPHANET:65	SPATA7	55812	HP:0100689	Decreased corneal thickness
ORPHANET:65	RDH12	145226	HP:0000365	Hearing impairment
ORPHANET:65	RDH12	145226	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	RDH12	145226	HP:0001250	Seizures
ORPHANET:65	RDH12	145226	HP:0001252	Muscular hypotonia
ORPHANET:65	RDH12	145226	HP:0100543	Cognitive impairment
ORPHANET:65	RDH12	145226	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	RDH12	145226	HP:0000505	Visual impairment
ORPHANET:65	RDH12	145226	HP:0000512	Abnormal electroretinogram
ORPHANET:65	RDH12	145226	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	RDH12	145226	HP:0000518	Cataract
ORPHANET:65	RDH12	145226	HP:0002084	Encephalocele
ORPHANET:65	RDH12	145226	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	RDH12	145226	HP:0000639	Nystagmus
ORPHANET:65	RDH12	145226	HP:0000648	Optic atrophy
ORPHANET:65	RDH12	145226	HP:0100689	Decreased corneal thickness
ORPHANET:65	RPGRIP1	57096	HP:0000365	Hearing impairment
ORPHANET:65	RPGRIP1	57096	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	RPGRIP1	57096	HP:0001250	Seizures
ORPHANET:65	RPGRIP1	57096	HP:0001252	Muscular hypotonia
ORPHANET:65	RPGRIP1	57096	HP:0100543	Cognitive impairment
ORPHANET:65	RPGRIP1	57096	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	RPGRIP1	57096	HP:0000505	Visual impairment
ORPHANET:65	RPGRIP1	57096	HP:0000512	Abnormal electroretinogram
ORPHANET:65	RPGRIP1	57096	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	RPGRIP1	57096	HP:0000518	Cataract
ORPHANET:65	RPGRIP1	57096	HP:0002084	Encephalocele
ORPHANET:65	RPGRIP1	57096	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	RPGRIP1	57096	HP:0000639	Nystagmus
ORPHANET:65	RPGRIP1	57096	HP:0000648	Optic atrophy
ORPHANET:65	RPGRIP1	57096	HP:0100689	Decreased corneal thickness
ORPHANET:65	RPE65	6121	HP:0000365	Hearing impairment
ORPHANET:65	RPE65	6121	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	RPE65	6121	HP:0001250	Seizures
ORPHANET:65	RPE65	6121	HP:0001252	Muscular hypotonia
ORPHANET:65	RPE65	6121	HP:0100543	Cognitive impairment
ORPHANET:65	RPE65	6121	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	RPE65	6121	HP:0000505	Visual impairment
ORPHANET:65	RPE65	6121	HP:0000512	Abnormal electroretinogram
ORPHANET:65	RPE65	6121	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	RPE65	6121	HP:0000518	Cataract
ORPHANET:65	RPE65	6121	HP:0002084	Encephalocele
ORPHANET:65	RPE65	6121	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	RPE65	6121	HP:0000639	Nystagmus
ORPHANET:65	RPE65	6121	HP:0000648	Optic atrophy
ORPHANET:65	RPE65	6121	HP:0100689	Decreased corneal thickness
ORPHANET:65	LCA5	167691	HP:0000365	Hearing impairment
ORPHANET:65	LCA5	167691	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	LCA5	167691	HP:0001250	Seizures
ORPHANET:65	LCA5	167691	HP:0001252	Muscular hypotonia
ORPHANET:65	LCA5	167691	HP:0100543	Cognitive impairment
ORPHANET:65	LCA5	167691	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	LCA5	167691	HP:0000505	Visual impairment
ORPHANET:65	LCA5	167691	HP:0000512	Abnormal electroretinogram
ORPHANET:65	LCA5	167691	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	LCA5	167691	HP:0000518	Cataract
ORPHANET:65	LCA5	167691	HP:0002084	Encephalocele
ORPHANET:65	LCA5	167691	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	LCA5	167691	HP:0000639	Nystagmus
ORPHANET:65	LCA5	167691	HP:0000648	Optic atrophy
ORPHANET:65	LCA5	167691	HP:0100689	Decreased corneal thickness
ORPHANET:65	LRAT	9227	HP:0000365	Hearing impairment
ORPHANET:65	LRAT	9227	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	LRAT	9227	HP:0001250	Seizures
ORPHANET:65	LRAT	9227	HP:0001252	Muscular hypotonia
ORPHANET:65	LRAT	9227	HP:0100543	Cognitive impairment
ORPHANET:65	LRAT	9227	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	LRAT	9227	HP:0000505	Visual impairment
ORPHANET:65	LRAT	9227	HP:0000512	Abnormal electroretinogram
ORPHANET:65	LRAT	9227	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	LRAT	9227	HP:0000518	Cataract
ORPHANET:65	LRAT	9227	HP:0002084	Encephalocele
ORPHANET:65	LRAT	9227	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	LRAT	9227	HP:0000639	Nystagmus
ORPHANET:65	LRAT	9227	HP:0000648	Optic atrophy
ORPHANET:65	LRAT	9227	HP:0100689	Decreased corneal thickness
ORPHANET:65	IFT140	9742	HP:0000365	Hearing impairment
ORPHANET:65	IFT140	9742	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	IFT140	9742	HP:0001250	Seizures
ORPHANET:65	IFT140	9742	HP:0001252	Muscular hypotonia
ORPHANET:65	IFT140	9742	HP:0100543	Cognitive impairment
ORPHANET:65	IFT140	9742	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	IFT140	9742	HP:0000505	Visual impairment
ORPHANET:65	IFT140	9742	HP:0000512	Abnormal electroretinogram
ORPHANET:65	IFT140	9742	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	IFT140	9742	HP:0000518	Cataract
ORPHANET:65	IFT140	9742	HP:0002084	Encephalocele
ORPHANET:65	IFT140	9742	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	IFT140	9742	HP:0000639	Nystagmus
ORPHANET:65	IFT140	9742	HP:0000648	Optic atrophy
ORPHANET:65	IFT140	9742	HP:0100689	Decreased corneal thickness
ORPHANET:65	TULP1	7287	HP:0000365	Hearing impairment
ORPHANET:65	TULP1	7287	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	TULP1	7287	HP:0001250	Seizures
ORPHANET:65	TULP1	7287	HP:0001252	Muscular hypotonia
ORPHANET:65	TULP1	7287	HP:0100543	Cognitive impairment
ORPHANET:65	TULP1	7287	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	TULP1	7287	HP:0000505	Visual impairment
ORPHANET:65	TULP1	7287	HP:0000512	Abnormal electroretinogram
ORPHANET:65	TULP1	7287	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	TULP1	7287	HP:0000518	Cataract
ORPHANET:65	TULP1	7287	HP:0002084	Encephalocele
ORPHANET:65	TULP1	7287	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	TULP1	7287	HP:0000639	Nystagmus
ORPHANET:65	TULP1	7287	HP:0000648	Optic atrophy
ORPHANET:65	TULP1	7287	HP:0100689	Decreased corneal thickness
ORPHANET:65	GUCY2D	3000	HP:0000365	Hearing impairment
ORPHANET:65	GUCY2D	3000	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	GUCY2D	3000	HP:0001250	Seizures
ORPHANET:65	GUCY2D	3000	HP:0001252	Muscular hypotonia
ORPHANET:65	GUCY2D	3000	HP:0100543	Cognitive impairment
ORPHANET:65	GUCY2D	3000	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	GUCY2D	3000	HP:0000505	Visual impairment
ORPHANET:65	GUCY2D	3000	HP:0000512	Abnormal electroretinogram
ORPHANET:65	GUCY2D	3000	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	GUCY2D	3000	HP:0000518	Cataract
ORPHANET:65	GUCY2D	3000	HP:0002084	Encephalocele
ORPHANET:65	GUCY2D	3000	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	GUCY2D	3000	HP:0000639	Nystagmus
ORPHANET:65	GUCY2D	3000	HP:0000648	Optic atrophy
ORPHANET:65	GUCY2D	3000	HP:0100689	Decreased corneal thickness
ORPHANET:65	CEP290	80184	HP:0000365	Hearing impairment
ORPHANET:65	CEP290	80184	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	CEP290	80184	HP:0001250	Seizures
ORPHANET:65	CEP290	80184	HP:0001252	Muscular hypotonia
ORPHANET:65	CEP290	80184	HP:0100543	Cognitive impairment
ORPHANET:65	CEP290	80184	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	CEP290	80184	HP:0000505	Visual impairment
ORPHANET:65	CEP290	80184	HP:0000512	Abnormal electroretinogram
ORPHANET:65	CEP290	80184	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	CEP290	80184	HP:0000518	Cataract
ORPHANET:65	CEP290	80184	HP:0002084	Encephalocele
ORPHANET:65	CEP290	80184	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	CEP290	80184	HP:0000639	Nystagmus
ORPHANET:65	CEP290	80184	HP:0000648	Optic atrophy
ORPHANET:65	CEP290	80184	HP:0100689	Decreased corneal thickness
ORPHANET:65	IQCB1	9657	HP:0000365	Hearing impairment
ORPHANET:65	IQCB1	9657	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	IQCB1	9657	HP:0001250	Seizures
ORPHANET:65	IQCB1	9657	HP:0001252	Muscular hypotonia
ORPHANET:65	IQCB1	9657	HP:0100543	Cognitive impairment
ORPHANET:65	IQCB1	9657	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	IQCB1	9657	HP:0000505	Visual impairment
ORPHANET:65	IQCB1	9657	HP:0000512	Abnormal electroretinogram
ORPHANET:65	IQCB1	9657	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	IQCB1	9657	HP:0000518	Cataract
ORPHANET:65	IQCB1	9657	HP:0002084	Encephalocele
ORPHANET:65	IQCB1	9657	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	IQCB1	9657	HP:0000639	Nystagmus
ORPHANET:65	IQCB1	9657	HP:0000648	Optic atrophy
ORPHANET:65	IQCB1	9657	HP:0100689	Decreased corneal thickness
ORPHANET:65	KCNJ13	3769	HP:0000365	Hearing impairment
ORPHANET:65	KCNJ13	3769	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	KCNJ13	3769	HP:0001250	Seizures
ORPHANET:65	KCNJ13	3769	HP:0001252	Muscular hypotonia
ORPHANET:65	KCNJ13	3769	HP:0100543	Cognitive impairment
ORPHANET:65	KCNJ13	3769	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	KCNJ13	3769	HP:0000505	Visual impairment
ORPHANET:65	KCNJ13	3769	HP:0000512	Abnormal electroretinogram
ORPHANET:65	KCNJ13	3769	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	KCNJ13	3769	HP:0000518	Cataract
ORPHANET:65	KCNJ13	3769	HP:0002084	Encephalocele
ORPHANET:65	KCNJ13	3769	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	KCNJ13	3769	HP:0000639	Nystagmus
ORPHANET:65	KCNJ13	3769	HP:0000648	Optic atrophy
ORPHANET:65	KCNJ13	3769	HP:0100689	Decreased corneal thickness
ORPHANET:65	CRB1	23418	HP:0000365	Hearing impairment
ORPHANET:65	CRB1	23418	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	CRB1	23418	HP:0001250	Seizures
ORPHANET:65	CRB1	23418	HP:0001252	Muscular hypotonia
ORPHANET:65	CRB1	23418	HP:0100543	Cognitive impairment
ORPHANET:65	CRB1	23418	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	CRB1	23418	HP:0000505	Visual impairment
ORPHANET:65	CRB1	23418	HP:0000512	Abnormal electroretinogram
ORPHANET:65	CRB1	23418	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	CRB1	23418	HP:0000518	Cataract
ORPHANET:65	CRB1	23418	HP:0002084	Encephalocele
ORPHANET:65	CRB1	23418	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	CRB1	23418	HP:0000639	Nystagmus
ORPHANET:65	CRB1	23418	HP:0000648	Optic atrophy
ORPHANET:65	CRB1	23418	HP:0100689	Decreased corneal thickness
ORPHANET:65	GDF6	392255	HP:0000365	Hearing impairment
ORPHANET:65	GDF6	392255	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	GDF6	392255	HP:0001250	Seizures
ORPHANET:65	GDF6	392255	HP:0001252	Muscular hypotonia
ORPHANET:65	GDF6	392255	HP:0100543	Cognitive impairment
ORPHANET:65	GDF6	392255	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	GDF6	392255	HP:0000505	Visual impairment
ORPHANET:65	GDF6	392255	HP:0000512	Abnormal electroretinogram
ORPHANET:65	GDF6	392255	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	GDF6	392255	HP:0000518	Cataract
ORPHANET:65	GDF6	392255	HP:0002084	Encephalocele
ORPHANET:65	GDF6	392255	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	GDF6	392255	HP:0000639	Nystagmus
ORPHANET:65	GDF6	392255	HP:0000648	Optic atrophy
ORPHANET:65	GDF6	392255	HP:0100689	Decreased corneal thickness
ORPHANET:65	RD3	343035	HP:0000365	Hearing impairment
ORPHANET:65	RD3	343035	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	RD3	343035	HP:0001250	Seizures
ORPHANET:65	RD3	343035	HP:0001252	Muscular hypotonia
ORPHANET:65	RD3	343035	HP:0100543	Cognitive impairment
ORPHANET:65	RD3	343035	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	RD3	343035	HP:0000505	Visual impairment
ORPHANET:65	RD3	343035	HP:0000512	Abnormal electroretinogram
ORPHANET:65	RD3	343035	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	RD3	343035	HP:0000518	Cataract
ORPHANET:65	RD3	343035	HP:0002084	Encephalocele
ORPHANET:65	RD3	343035	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	RD3	343035	HP:0000639	Nystagmus
ORPHANET:65	RD3	343035	HP:0000648	Optic atrophy
ORPHANET:65	RD3	343035	HP:0100689	Decreased corneal thickness
ORPHANET:65	CRX	1406	HP:0000365	Hearing impairment
ORPHANET:65	CRX	1406	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	CRX	1406	HP:0001250	Seizures
ORPHANET:65	CRX	1406	HP:0001252	Muscular hypotonia
ORPHANET:65	CRX	1406	HP:0100543	Cognitive impairment
ORPHANET:65	CRX	1406	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	CRX	1406	HP:0000505	Visual impairment
ORPHANET:65	CRX	1406	HP:0000512	Abnormal electroretinogram
ORPHANET:65	CRX	1406	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	CRX	1406	HP:0000518	Cataract
ORPHANET:65	CRX	1406	HP:0002084	Encephalocele
ORPHANET:65	CRX	1406	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	CRX	1406	HP:0000639	Nystagmus
ORPHANET:65	CRX	1406	HP:0000648	Optic atrophy
ORPHANET:65	CRX	1406	HP:0100689	Decreased corneal thickness
ORPHANET:65	IMPDH1	3614	HP:0000365	Hearing impairment
ORPHANET:65	IMPDH1	3614	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:65	IMPDH1	3614	HP:0001250	Seizures
ORPHANET:65	IMPDH1	3614	HP:0001252	Muscular hypotonia
ORPHANET:65	IMPDH1	3614	HP:0100543	Cognitive impairment
ORPHANET:65	IMPDH1	3614	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:65	IMPDH1	3614	HP:0000505	Visual impairment
ORPHANET:65	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
ORPHANET:65	IMPDH1	3614	HP:0002269	Abnormality of neuronal migration
ORPHANET:65	IMPDH1	3614	HP:0000518	Cataract
ORPHANET:65	IMPDH1	3614	HP:0002084	Encephalocele
ORPHANET:65	IMPDH1	3614	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:65	IMPDH1	3614	HP:0000639	Nystagmus
ORPHANET:65	IMPDH1	3614	HP:0000648	Optic atrophy
ORPHANET:65	IMPDH1	3614	HP:0100689	Decreased corneal thickness
OMIM:268700	AASS	10157	HP:0002353	EEG abnormality
OMIM:268700	AASS	10157	HP:0001249	Intellectual disability
OMIM:268700	AASS	10157	HP:0000007	Autosomal recessive inheritance
OMIM:268700	AASS	10157	HP:0004322	Short stature
OMIM:615287	B4GAT1	11041	HP:0001305	Dandy-Walker malformation
OMIM:615287	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:615287	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:615287	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:615287	B4GAT1	11041	HP:0007973	Retinal dysplasia
OMIM:615287	B4GAT1	11041	HP:0001250	Seizures
OMIM:615287	B4GAT1	11041	HP:0000107	Renal cyst
OMIM:615287	B4GAT1	11041	HP:0002539	Cortical dysplasia
OMIM:615287	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:615287	B4GAT1	11041	HP:0008734	Decreased testicular size
OMIM:615287	B4GAT1	11041	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	B4GAT1	11041	HP:0003577	Congenital onset
OMIM:615287	B4GAT1	11041	HP:0001274	Agenesis of corpus callosum
OMIM:615287	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
OMIM:615287	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	B4GAT1	11041	HP:0006829	Severe muscular hypotonia
OMIM:615287	B4GAT1	11041	HP:0000110	Renal dysplasia
OMIM:615287	B4GAT1	11041	HP:0001263	Global developmental delay
OMIM:615287	POMT2	29954	HP:0001305	Dandy-Walker malformation
OMIM:615287	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:615287	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:615287	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:615287	POMT2	29954	HP:0007973	Retinal dysplasia
OMIM:615287	POMT2	29954	HP:0001250	Seizures
OMIM:615287	POMT2	29954	HP:0000107	Renal cyst
OMIM:615287	POMT2	29954	HP:0002539	Cortical dysplasia
OMIM:615287	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:615287	POMT2	29954	HP:0008734	Decreased testicular size
OMIM:615287	POMT2	29954	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	POMT2	29954	HP:0003577	Congenital onset
OMIM:615287	POMT2	29954	HP:0001274	Agenesis of corpus callosum
OMIM:615287	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:615287	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	POMT2	29954	HP:0006829	Severe muscular hypotonia
OMIM:615287	POMT2	29954	HP:0000110	Renal dysplasia
OMIM:615287	POMT2	29954	HP:0001263	Global developmental delay
OMIM:615287	COL4A1	1282	HP:0001305	Dandy-Walker malformation
OMIM:615287	COL4A1	1282	HP:0000007	Autosomal recessive inheritance
OMIM:615287	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:615287	COL4A1	1282	HP:0003560	Muscular dystrophy
OMIM:615287	COL4A1	1282	HP:0007973	Retinal dysplasia
OMIM:615287	COL4A1	1282	HP:0001250	Seizures
OMIM:615287	COL4A1	1282	HP:0000107	Renal cyst
OMIM:615287	COL4A1	1282	HP:0002539	Cortical dysplasia
OMIM:615287	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:615287	COL4A1	1282	HP:0008734	Decreased testicular size
OMIM:615287	COL4A1	1282	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	COL4A1	1282	HP:0003577	Congenital onset
OMIM:615287	COL4A1	1282	HP:0001274	Agenesis of corpus callosum
OMIM:615287	COL4A1	1282	HP:0001321	Cerebellar hypoplasia
OMIM:615287	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	COL4A1	1282	HP:0006829	Severe muscular hypotonia
OMIM:615287	COL4A1	1282	HP:0000110	Renal dysplasia
OMIM:615287	COL4A1	1282	HP:0001263	Global developmental delay
OMIM:615287	POMK	84197	HP:0001305	Dandy-Walker malformation
OMIM:615287	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:615287	POMK	84197	HP:0000238	Hydrocephalus
OMIM:615287	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:615287	POMK	84197	HP:0007973	Retinal dysplasia
OMIM:615287	POMK	84197	HP:0001250	Seizures
OMIM:615287	POMK	84197	HP:0000107	Renal cyst
OMIM:615287	POMK	84197	HP:0002539	Cortical dysplasia
OMIM:615287	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:615287	POMK	84197	HP:0008734	Decreased testicular size
OMIM:615287	POMK	84197	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	POMK	84197	HP:0003577	Congenital onset
OMIM:615287	POMK	84197	HP:0001274	Agenesis of corpus callosum
OMIM:615287	POMK	84197	HP:0001321	Cerebellar hypoplasia
OMIM:615287	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	POMK	84197	HP:0006829	Severe muscular hypotonia
OMIM:615287	POMK	84197	HP:0000110	Renal dysplasia
OMIM:615287	POMK	84197	HP:0001263	Global developmental delay
OMIM:615287	DAG1	1605	HP:0001305	Dandy-Walker malformation
OMIM:615287	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:615287	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:615287	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:615287	DAG1	1605	HP:0007973	Retinal dysplasia
OMIM:615287	DAG1	1605	HP:0001250	Seizures
OMIM:615287	DAG1	1605	HP:0000107	Renal cyst
OMIM:615287	DAG1	1605	HP:0002539	Cortical dysplasia
OMIM:615287	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:615287	DAG1	1605	HP:0008734	Decreased testicular size
OMIM:615287	DAG1	1605	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	DAG1	1605	HP:0003577	Congenital onset
OMIM:615287	DAG1	1605	HP:0001274	Agenesis of corpus callosum
OMIM:615287	DAG1	1605	HP:0001321	Cerebellar hypoplasia
OMIM:615287	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	DAG1	1605	HP:0006829	Severe muscular hypotonia
OMIM:615287	DAG1	1605	HP:0000110	Renal dysplasia
OMIM:615287	DAG1	1605	HP:0001263	Global developmental delay
OMIM:615287	POMGNT1	55624	HP:0001305	Dandy-Walker malformation
OMIM:615287	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:615287	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:615287	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:615287	POMGNT1	55624	HP:0007973	Retinal dysplasia
OMIM:615287	POMGNT1	55624	HP:0001250	Seizures
OMIM:615287	POMGNT1	55624	HP:0000107	Renal cyst
OMIM:615287	POMGNT1	55624	HP:0002539	Cortical dysplasia
OMIM:615287	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:615287	POMGNT1	55624	HP:0008734	Decreased testicular size
OMIM:615287	POMGNT1	55624	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	POMGNT1	55624	HP:0003577	Congenital onset
OMIM:615287	POMGNT1	55624	HP:0001274	Agenesis of corpus callosum
OMIM:615287	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:615287	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	POMGNT1	55624	HP:0006829	Severe muscular hypotonia
OMIM:615287	POMGNT1	55624	HP:0000110	Renal dysplasia
OMIM:615287	POMGNT1	55624	HP:0001263	Global developmental delay
OMIM:615287	FKTN	2218	HP:0001305	Dandy-Walker malformation
OMIM:615287	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:615287	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:615287	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:615287	FKTN	2218	HP:0007973	Retinal dysplasia
OMIM:615287	FKTN	2218	HP:0001250	Seizures
OMIM:615287	FKTN	2218	HP:0000107	Renal cyst
OMIM:615287	FKTN	2218	HP:0002539	Cortical dysplasia
OMIM:615287	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:615287	FKTN	2218	HP:0008734	Decreased testicular size
OMIM:615287	FKTN	2218	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	FKTN	2218	HP:0003577	Congenital onset
OMIM:615287	FKTN	2218	HP:0001274	Agenesis of corpus callosum
OMIM:615287	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:615287	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	FKTN	2218	HP:0006829	Severe muscular hypotonia
OMIM:615287	FKTN	2218	HP:0000110	Renal dysplasia
OMIM:615287	FKTN	2218	HP:0001263	Global developmental delay
OMIM:615287	FKRP	79147	HP:0001305	Dandy-Walker malformation
OMIM:615287	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:615287	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:615287	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:615287	FKRP	79147	HP:0007973	Retinal dysplasia
OMIM:615287	FKRP	79147	HP:0001250	Seizures
OMIM:615287	FKRP	79147	HP:0000107	Renal cyst
OMIM:615287	FKRP	79147	HP:0002539	Cortical dysplasia
OMIM:615287	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:615287	FKRP	79147	HP:0008734	Decreased testicular size
OMIM:615287	FKRP	79147	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	FKRP	79147	HP:0003577	Congenital onset
OMIM:615287	FKRP	79147	HP:0001274	Agenesis of corpus callosum
OMIM:615287	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:615287	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	FKRP	79147	HP:0006829	Severe muscular hypotonia
OMIM:615287	FKRP	79147	HP:0000110	Renal dysplasia
OMIM:615287	FKRP	79147	HP:0001263	Global developmental delay
OMIM:615287	ISPD	729920	HP:0001305	Dandy-Walker malformation
OMIM:615287	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:615287	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:615287	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:615287	ISPD	729920	HP:0007973	Retinal dysplasia
OMIM:615287	ISPD	729920	HP:0001250	Seizures
OMIM:615287	ISPD	729920	HP:0000107	Renal cyst
OMIM:615287	ISPD	729920	HP:0002539	Cortical dysplasia
OMIM:615287	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:615287	ISPD	729920	HP:0008734	Decreased testicular size
OMIM:615287	ISPD	729920	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	ISPD	729920	HP:0003577	Congenital onset
OMIM:615287	ISPD	729920	HP:0001274	Agenesis of corpus callosum
OMIM:615287	ISPD	729920	HP:0001321	Cerebellar hypoplasia
OMIM:615287	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	ISPD	729920	HP:0006829	Severe muscular hypotonia
OMIM:615287	ISPD	729920	HP:0000110	Renal dysplasia
OMIM:615287	ISPD	729920	HP:0001263	Global developmental delay
OMIM:615287	B3GALNT2	148789	HP:0001305	Dandy-Walker malformation
OMIM:615287	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:615287	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:615287	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:615287	B3GALNT2	148789	HP:0007973	Retinal dysplasia
OMIM:615287	B3GALNT2	148789	HP:0001250	Seizures
OMIM:615287	B3GALNT2	148789	HP:0000107	Renal cyst
OMIM:615287	B3GALNT2	148789	HP:0002539	Cortical dysplasia
OMIM:615287	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:615287	B3GALNT2	148789	HP:0008734	Decreased testicular size
OMIM:615287	B3GALNT2	148789	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	B3GALNT2	148789	HP:0003577	Congenital onset
OMIM:615287	B3GALNT2	148789	HP:0001274	Agenesis of corpus callosum
OMIM:615287	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:615287	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	B3GALNT2	148789	HP:0006829	Severe muscular hypotonia
OMIM:615287	B3GALNT2	148789	HP:0000110	Renal dysplasia
OMIM:615287	B3GALNT2	148789	HP:0001263	Global developmental delay
OMIM:615287	POMT1	10585	HP:0001305	Dandy-Walker malformation
OMIM:615287	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:615287	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:615287	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:615287	POMT1	10585	HP:0007973	Retinal dysplasia
OMIM:615287	POMT1	10585	HP:0001250	Seizures
OMIM:615287	POMT1	10585	HP:0000107	Renal cyst
OMIM:615287	POMT1	10585	HP:0002539	Cortical dysplasia
OMIM:615287	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:615287	POMT1	10585	HP:0008734	Decreased testicular size
OMIM:615287	POMT1	10585	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	POMT1	10585	HP:0003577	Congenital onset
OMIM:615287	POMT1	10585	HP:0001274	Agenesis of corpus callosum
OMIM:615287	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:615287	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	POMT1	10585	HP:0006829	Severe muscular hypotonia
OMIM:615287	POMT1	10585	HP:0000110	Renal dysplasia
OMIM:615287	POMT1	10585	HP:0001263	Global developmental delay
OMIM:615287	TMEM5	10329	HP:0001305	Dandy-Walker malformation
OMIM:615287	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:615287	TMEM5	10329	HP:0000238	Hydrocephalus
OMIM:615287	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:615287	TMEM5	10329	HP:0007973	Retinal dysplasia
OMIM:615287	TMEM5	10329	HP:0001250	Seizures
OMIM:615287	TMEM5	10329	HP:0000107	Renal cyst
OMIM:615287	TMEM5	10329	HP:0002539	Cortical dysplasia
OMIM:615287	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:615287	TMEM5	10329	HP:0008734	Decreased testicular size
OMIM:615287	TMEM5	10329	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	TMEM5	10329	HP:0003577	Congenital onset
OMIM:615287	TMEM5	10329	HP:0001274	Agenesis of corpus callosum
OMIM:615287	TMEM5	10329	HP:0001321	Cerebellar hypoplasia
OMIM:615287	TMEM5	10329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	TMEM5	10329	HP:0006829	Severe muscular hypotonia
OMIM:615287	TMEM5	10329	HP:0000110	Renal dysplasia
OMIM:615287	TMEM5	10329	HP:0001263	Global developmental delay
OMIM:615287	POMGNT2	84892	HP:0001305	Dandy-Walker malformation
OMIM:615287	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:615287	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:615287	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:615287	POMGNT2	84892	HP:0007973	Retinal dysplasia
OMIM:615287	POMGNT2	84892	HP:0001250	Seizures
OMIM:615287	POMGNT2	84892	HP:0000107	Renal cyst
OMIM:615287	POMGNT2	84892	HP:0002539	Cortical dysplasia
OMIM:615287	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:615287	POMGNT2	84892	HP:0008734	Decreased testicular size
OMIM:615287	POMGNT2	84892	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	POMGNT2	84892	HP:0003577	Congenital onset
OMIM:615287	POMGNT2	84892	HP:0001274	Agenesis of corpus callosum
OMIM:615287	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
OMIM:615287	POMGNT2	84892	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	POMGNT2	84892	HP:0006829	Severe muscular hypotonia
OMIM:615287	POMGNT2	84892	HP:0000110	Renal dysplasia
OMIM:615287	POMGNT2	84892	HP:0001263	Global developmental delay
OMIM:615287	LARGE	9215	HP:0001305	Dandy-Walker malformation
OMIM:615287	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:615287	LARGE	9215	HP:0000238	Hydrocephalus
OMIM:615287	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:615287	LARGE	9215	HP:0007973	Retinal dysplasia
OMIM:615287	LARGE	9215	HP:0001250	Seizures
OMIM:615287	LARGE	9215	HP:0000107	Renal cyst
OMIM:615287	LARGE	9215	HP:0002539	Cortical dysplasia
OMIM:615287	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:615287	LARGE	9215	HP:0008734	Decreased testicular size
OMIM:615287	LARGE	9215	HP:0002365	Hypoplasia of the brainstem
OMIM:615287	LARGE	9215	HP:0003577	Congenital onset
OMIM:615287	LARGE	9215	HP:0001274	Agenesis of corpus callosum
OMIM:615287	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:615287	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615287	LARGE	9215	HP:0006829	Severe muscular hypotonia
OMIM:615287	LARGE	9215	HP:0000110	Renal dysplasia
OMIM:615287	LARGE	9215	HP:0001263	Global developmental delay
ORPHANET:2345	GDF3	9573	HP:0000465	Webbed neck
ORPHANET:2345	GDF3	9573	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:2345	GDF3	9573	HP:0100589	Urogenital fistula
ORPHANET:2345	GDF3	9573	HP:0002162	Low posterior hairline
ORPHANET:2345	GDF3	9573	HP:0000912	Sprengel anomaly
ORPHANET:2345	GDF3	9573	HP:0002414	Spina bifida
ORPHANET:2345	GDF3	9573	HP:0000772	Abnormality of the ribs
ORPHANET:2345	GDF3	9573	HP:0001291	Abnormality of the cranial nerves
ORPHANET:2345	GDF3	9573	HP:0100543	Cognitive impairment
ORPHANET:2345	GDF3	9573	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:2345	GDF3	9573	HP:0005107	Abnormality of the sacrum
ORPHANET:2345	GDF3	9573	HP:0000175	Cleft palate
ORPHANET:2345	GDF3	9573	HP:0000470	Short neck
ORPHANET:2345	GDF3	9573	HP:0000324	Facial asymmetry
ORPHANET:2345	GDF3	9573	HP:0003043	Abnormality of the shoulder
ORPHANET:2345	GDF3	9573	HP:0003422	Vertebral segmentation defect
ORPHANET:2345	GDF3	9573	HP:0000365	Hearing impairment
ORPHANET:2345	GDF3	9573	HP:0002650	Scoliosis
ORPHANET:2345	GDF3	9573	HP:0001629	Ventricular septal defect
ORPHANET:2345	GDF6	392255	HP:0000465	Webbed neck
ORPHANET:2345	GDF6	392255	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:2345	GDF6	392255	HP:0100589	Urogenital fistula
ORPHANET:2345	GDF6	392255	HP:0002162	Low posterior hairline
ORPHANET:2345	GDF6	392255	HP:0000912	Sprengel anomaly
ORPHANET:2345	GDF6	392255	HP:0002414	Spina bifida
ORPHANET:2345	GDF6	392255	HP:0000772	Abnormality of the ribs
ORPHANET:2345	GDF6	392255	HP:0001291	Abnormality of the cranial nerves
ORPHANET:2345	GDF6	392255	HP:0100543	Cognitive impairment
ORPHANET:2345	GDF6	392255	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:2345	GDF6	392255	HP:0005107	Abnormality of the sacrum
ORPHANET:2345	GDF6	392255	HP:0000175	Cleft palate
ORPHANET:2345	GDF6	392255	HP:0000470	Short neck
ORPHANET:2345	GDF6	392255	HP:0000324	Facial asymmetry
ORPHANET:2345	GDF6	392255	HP:0003043	Abnormality of the shoulder
ORPHANET:2345	GDF6	392255	HP:0003422	Vertebral segmentation defect
ORPHANET:2345	GDF6	392255	HP:0000365	Hearing impairment
ORPHANET:2345	GDF6	392255	HP:0002650	Scoliosis
ORPHANET:2345	GDF6	392255	HP:0001629	Ventricular septal defect
ORPHANET:2345	MEOX1	4222	HP:0000465	Webbed neck
ORPHANET:2345	MEOX1	4222	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:2345	MEOX1	4222	HP:0100589	Urogenital fistula
ORPHANET:2345	MEOX1	4222	HP:0002162	Low posterior hairline
ORPHANET:2345	MEOX1	4222	HP:0000912	Sprengel anomaly
ORPHANET:2345	MEOX1	4222	HP:0002414	Spina bifida
ORPHANET:2345	MEOX1	4222	HP:0000772	Abnormality of the ribs
ORPHANET:2345	MEOX1	4222	HP:0001291	Abnormality of the cranial nerves
ORPHANET:2345	MEOX1	4222	HP:0100543	Cognitive impairment
ORPHANET:2345	MEOX1	4222	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:2345	MEOX1	4222	HP:0005107	Abnormality of the sacrum
ORPHANET:2345	MEOX1	4222	HP:0000175	Cleft palate
ORPHANET:2345	MEOX1	4222	HP:0000470	Short neck
ORPHANET:2345	MEOX1	4222	HP:0000324	Facial asymmetry
ORPHANET:2345	MEOX1	4222	HP:0003043	Abnormality of the shoulder
ORPHANET:2345	MEOX1	4222	HP:0003422	Vertebral segmentation defect
ORPHANET:2345	MEOX1	4222	HP:0000365	Hearing impairment
ORPHANET:2345	MEOX1	4222	HP:0002650	Scoliosis
ORPHANET:2345	MEOX1	4222	HP:0001629	Ventricular septal defect
OMIM:188550	FOXE1	2304	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	FOXE1	2304	HP:0000006	Autosomal dominant inheritance
OMIM:188550	HRAS	3265	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	HRAS	3265	HP:0000006	Autosomal dominant inheritance
OMIM:188550	KRAS	3845	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:188550	TPR	7175	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	TPR	7175	HP:0000006	Autosomal dominant inheritance
OMIM:188550	NDUFA13	51079	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	NDUFA13	51079	HP:0000006	Autosomal dominant inheritance
OMIM:188550	TRIM33	51592	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	TRIM33	51592	HP:0000006	Autosomal dominant inheritance
OMIM:188550	ETV6	2120	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	ETV6	2120	HP:0000006	Autosomal dominant inheritance
OMIM:188550	HABP2	3026	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	HABP2	3026	HP:0000006	Autosomal dominant inheritance
OMIM:188550	RET	5979	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:188550	PPARG	5468	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	PPARG	5468	HP:0000006	Autosomal dominant inheritance
OMIM:188550	NRAS	4893	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:188550	CCDC6	8030	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	CCDC6	8030	HP:0000006	Autosomal dominant inheritance
OMIM:188550	GOLGA5	9950	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	GOLGA5	9950	HP:0000006	Autosomal dominant inheritance
OMIM:188550	NCOA4	8031	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	NCOA4	8031	HP:0000006	Autosomal dominant inheritance
OMIM:188550	BRAF	673	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:188550	TRIM27	5987	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	TRIM27	5987	HP:0000006	Autosomal dominant inheritance
OMIM:188550	TRIM24	8805	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	TRIM24	8805	HP:0000006	Autosomal dominant inheritance
OMIM:188550	DIRC3	729582	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	DIRC3	729582	HP:0000006	Autosomal dominant inheritance
OMIM:188550	TFG	10342	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	TFG	10342	HP:0000006	Autosomal dominant inheritance
OMIM:188550	NKX2-1	7080	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	NKX2-1	7080	HP:0000006	Autosomal dominant inheritance
OMIM:188550	PAX8	7849	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	PAX8	7849	HP:0000006	Autosomal dominant inheritance
OMIM:188550	EIF1AX	1964	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	EIF1AX	1964	HP:0000006	Autosomal dominant inheritance
OMIM:188550	ERC1	23085	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	ERC1	23085	HP:0000006	Autosomal dominant inheritance
OMIM:188550	ALK	238	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	ALK	238	HP:0000006	Autosomal dominant inheritance
OMIM:188550	NTRK1	4914	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	NTRK1	4914	HP:0000006	Autosomal dominant inheritance
OMIM:188550	PCM1	5108	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	PCM1	5108	HP:0000006	Autosomal dominant inheritance
OMIM:188550	NTRK3	4916	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	NTRK3	4916	HP:0000006	Autosomal dominant inheritance
OMIM:615947	LMF1	64788	HP:0001508	Failure to thrive
OMIM:615947	LMF1	64788	HP:0002583	Colitis
OMIM:615947	LMF1	64788	HP:0000660	Lipemia retinalis
OMIM:615947	LMF1	64788	HP:0010980	Hyperlipoproteinemia
OMIM:615947	GPIHBP1	338328	HP:0001508	Failure to thrive
OMIM:615947	GPIHBP1	338328	HP:0002583	Colitis
OMIM:615947	GPIHBP1	338328	HP:0000660	Lipemia retinalis
OMIM:615947	GPIHBP1	338328	HP:0010980	Hyperlipoproteinemia
OMIM:605594	DSPP	1834	HP:0000006	Autosomal dominant inheritance
OMIM:605594	DSPP	1834	HP:0000360	Tinnitus
OMIM:605594	DSPP	1834	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:605594	DSPP	1834	HP:0005101	High-frequency hearing impairment
OMIM:608807	TTN	7273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608807	TTN	7273	HP:0003560	Muscular dystrophy
OMIM:608807	TTN	7273	HP:0003701	Proximal muscle weakness
OMIM:608807	TTN	7273	HP:0002460	Distal muscle weakness
OMIM:608807	TTN	7273	HP:0011463	Childhood onset
OMIM:608807	TTN	7273	HP:0000007	Autosomal recessive inheritance
OMIM:608807	TTN	7273	HP:0003458	EMG: myopathic abnormalities
OMIM:606012	DIAPH1	1729	HP:0001730	Progressive hearing impairment
OMIM:606012	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:606012	CEACAM16	388551	HP:0001730	Progressive hearing impairment
OMIM:606012	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:606012	SLC17A8	246213	HP:0001730	Progressive hearing impairment
OMIM:606012	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:606012	TJP2	9414	HP:0001730	Progressive hearing impairment
OMIM:606012	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:606012	ACTG1	71	HP:0001730	Progressive hearing impairment
OMIM:606012	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:606012	CCDC50	152137	HP:0001730	Progressive hearing impairment
OMIM:606012	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:606012	MIR96	407053	HP:0001730	Progressive hearing impairment
OMIM:606012	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:606012	GJB2	2706	HP:0001730	Progressive hearing impairment
OMIM:606012	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:606012	POU4F3	5459	HP:0001730	Progressive hearing impairment
OMIM:606012	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:606012	GJB3	2707	HP:0001730	Progressive hearing impairment
OMIM:606012	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:606012	MYH9	4627	HP:0001730	Progressive hearing impairment
OMIM:606012	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:606012	CRYM	1428	HP:0001730	Progressive hearing impairment
OMIM:606012	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:606012	COL11A2	1302	HP:0001730	Progressive hearing impairment
OMIM:606012	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:606012	EYA4	2070	HP:0001730	Progressive hearing impairment
OMIM:606012	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:606012	DFNA5	1687	HP:0001730	Progressive hearing impairment
OMIM:606012	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:606012	DIAPH3	81624	HP:0001730	Progressive hearing impairment
OMIM:606012	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:606012	TMC1	117531	HP:0001730	Progressive hearing impairment
OMIM:606012	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:606012	COCH	1690	HP:0001730	Progressive hearing impairment
OMIM:606012	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:606012	OSBPL2	9885	HP:0001730	Progressive hearing impairment
OMIM:606012	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:606012	SIX1	6495	HP:0001730	Progressive hearing impairment
OMIM:606012	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:606012	TECTA	7007	HP:0001730	Progressive hearing impairment
OMIM:606012	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:606012	MYO1A	4640	HP:0001730	Progressive hearing impairment
OMIM:606012	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:606012	MYO1C	4641	HP:0001730	Progressive hearing impairment
OMIM:606012	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:606012	MYO6	4646	HP:0001730	Progressive hearing impairment
OMIM:606012	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:606012	MYO7A	4647	HP:0001730	Progressive hearing impairment
OMIM:606012	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:606012	GRHL2	79977	HP:0001730	Progressive hearing impairment
OMIM:606012	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:606012	DIABLO	56616	HP:0001730	Progressive hearing impairment
OMIM:606012	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:606012	MYH14	79784	HP:0001730	Progressive hearing impairment
OMIM:606012	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:606012	P2RX2	22953	HP:0001730	Progressive hearing impairment
OMIM:606012	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:606012	WFS1	7466	HP:0001730	Progressive hearing impairment
OMIM:606012	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:606012	TNC	3371	HP:0001730	Progressive hearing impairment
OMIM:606012	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:606012	KCNQ4	9132	HP:0001730	Progressive hearing impairment
OMIM:606012	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:606012	HOMER2	9455	HP:0001730	Progressive hearing impairment
OMIM:606012	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:606012	GJB6	10804	HP:0001730	Progressive hearing impairment
OMIM:606012	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:606012	TBC1D24	57465	HP:0001730	Progressive hearing impairment
OMIM:606012	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:606719	CDKN2A	1029	HP:0000006	Autosomal dominant inheritance
OMIM:606719	CDKN2A	1029	HP:0002861	Melanoma
OMIM:606719	CDKN2A	1029	HP:0002860	Squamous cell carcinoma
OMIM:606719	CDKN2A	1029	HP:0100242	Sarcoma
OMIM:610832	FANCC	2176	HP:0002885	Medulloblastoma
OMIM:610832	FANCC	2176	HP:0001915	Aplastic anemia
OMIM:610832	FANCC	2176	HP:0000316	Hypertelorism
OMIM:610832	FANCC	2176	HP:0000286	Epicanthus
OMIM:610832	FANCC	2176	HP:0003006	Neuroblastoma
OMIM:610832	FANCC	2176	HP:0000007	Autosomal recessive inheritance
OMIM:610832	FANCC	2176	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	FANCC	2176	HP:0008897	Postnatal growth retardation
OMIM:610832	FANCC	2176	HP:0000470	Short neck
OMIM:610832	FANCC	2176	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	FANCC	2176	HP:0000957	Cafe-au-lait spot
OMIM:610832	FANCC	2176	HP:0001629	Ventricular septal defect
OMIM:610832	FANCC	2176	HP:0000252	Microcephaly
OMIM:610832	FANCC	2176	HP:0009778	Short thumb
OMIM:610832	FANCD2	2177	HP:0002885	Medulloblastoma
OMIM:610832	FANCD2	2177	HP:0001915	Aplastic anemia
OMIM:610832	FANCD2	2177	HP:0000316	Hypertelorism
OMIM:610832	FANCD2	2177	HP:0000286	Epicanthus
OMIM:610832	FANCD2	2177	HP:0003006	Neuroblastoma
OMIM:610832	FANCD2	2177	HP:0000007	Autosomal recessive inheritance
OMIM:610832	FANCD2	2177	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	FANCD2	2177	HP:0008897	Postnatal growth retardation
OMIM:610832	FANCD2	2177	HP:0000470	Short neck
OMIM:610832	FANCD2	2177	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	FANCD2	2177	HP:0000957	Cafe-au-lait spot
OMIM:610832	FANCD2	2177	HP:0001629	Ventricular septal defect
OMIM:610832	FANCD2	2177	HP:0000252	Microcephaly
OMIM:610832	FANCD2	2177	HP:0009778	Short thumb
OMIM:610832	FANCM	57697	HP:0002885	Medulloblastoma
OMIM:610832	FANCM	57697	HP:0001915	Aplastic anemia
OMIM:610832	FANCM	57697	HP:0000316	Hypertelorism
OMIM:610832	FANCM	57697	HP:0000286	Epicanthus
OMIM:610832	FANCM	57697	HP:0003006	Neuroblastoma
OMIM:610832	FANCM	57697	HP:0000007	Autosomal recessive inheritance
OMIM:610832	FANCM	57697	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	FANCM	57697	HP:0008897	Postnatal growth retardation
OMIM:610832	FANCM	57697	HP:0000470	Short neck
OMIM:610832	FANCM	57697	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	FANCM	57697	HP:0000957	Cafe-au-lait spot
OMIM:610832	FANCM	57697	HP:0001629	Ventricular septal defect
OMIM:610832	FANCM	57697	HP:0000252	Microcephaly
OMIM:610832	FANCM	57697	HP:0009778	Short thumb
OMIM:610832	RAD51C	5889	HP:0002885	Medulloblastoma
OMIM:610832	RAD51C	5889	HP:0001915	Aplastic anemia
OMIM:610832	RAD51C	5889	HP:0000316	Hypertelorism
OMIM:610832	RAD51C	5889	HP:0000286	Epicanthus
OMIM:610832	RAD51C	5889	HP:0003006	Neuroblastoma
OMIM:610832	RAD51C	5889	HP:0000007	Autosomal recessive inheritance
OMIM:610832	RAD51C	5889	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	RAD51C	5889	HP:0008897	Postnatal growth retardation
OMIM:610832	RAD51C	5889	HP:0000470	Short neck
OMIM:610832	RAD51C	5889	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	RAD51C	5889	HP:0000957	Cafe-au-lait spot
OMIM:610832	RAD51C	5889	HP:0001629	Ventricular septal defect
OMIM:610832	RAD51C	5889	HP:0000252	Microcephaly
OMIM:610832	RAD51C	5889	HP:0009778	Short thumb
OMIM:610832	UBE2T	29089	HP:0002885	Medulloblastoma
OMIM:610832	UBE2T	29089	HP:0001915	Aplastic anemia
OMIM:610832	UBE2T	29089	HP:0000316	Hypertelorism
OMIM:610832	UBE2T	29089	HP:0000286	Epicanthus
OMIM:610832	UBE2T	29089	HP:0003006	Neuroblastoma
OMIM:610832	UBE2T	29089	HP:0000007	Autosomal recessive inheritance
OMIM:610832	UBE2T	29089	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	UBE2T	29089	HP:0008897	Postnatal growth retardation
OMIM:610832	UBE2T	29089	HP:0000470	Short neck
OMIM:610832	UBE2T	29089	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	UBE2T	29089	HP:0000957	Cafe-au-lait spot
OMIM:610832	UBE2T	29089	HP:0001629	Ventricular septal defect
OMIM:610832	UBE2T	29089	HP:0000252	Microcephaly
OMIM:610832	UBE2T	29089	HP:0009778	Short thumb
OMIM:610832	FANCE	2178	HP:0002885	Medulloblastoma
OMIM:610832	FANCE	2178	HP:0001915	Aplastic anemia
OMIM:610832	FANCE	2178	HP:0000316	Hypertelorism
OMIM:610832	FANCE	2178	HP:0000286	Epicanthus
OMIM:610832	FANCE	2178	HP:0003006	Neuroblastoma
OMIM:610832	FANCE	2178	HP:0000007	Autosomal recessive inheritance
OMIM:610832	FANCE	2178	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	FANCE	2178	HP:0008897	Postnatal growth retardation
OMIM:610832	FANCE	2178	HP:0000470	Short neck
OMIM:610832	FANCE	2178	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	FANCE	2178	HP:0000957	Cafe-au-lait spot
OMIM:610832	FANCE	2178	HP:0001629	Ventricular septal defect
OMIM:610832	FANCE	2178	HP:0000252	Microcephaly
OMIM:610832	FANCE	2178	HP:0009778	Short thumb
OMIM:610832	BRCA2	675	HP:0002885	Medulloblastoma
OMIM:610832	BRCA2	675	HP:0001915	Aplastic anemia
OMIM:610832	BRCA2	675	HP:0000316	Hypertelorism
OMIM:610832	BRCA2	675	HP:0000286	Epicanthus
OMIM:610832	BRCA2	675	HP:0003006	Neuroblastoma
OMIM:610832	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:610832	BRCA2	675	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	BRCA2	675	HP:0008897	Postnatal growth retardation
OMIM:610832	BRCA2	675	HP:0000470	Short neck
OMIM:610832	BRCA2	675	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	BRCA2	675	HP:0000957	Cafe-au-lait spot
OMIM:610832	BRCA2	675	HP:0001629	Ventricular septal defect
OMIM:610832	BRCA2	675	HP:0000252	Microcephaly
OMIM:610832	BRCA2	675	HP:0009778	Short thumb
OMIM:610832	FANCB	2187	HP:0002885	Medulloblastoma
OMIM:610832	FANCB	2187	HP:0001915	Aplastic anemia
OMIM:610832	FANCB	2187	HP:0000316	Hypertelorism
OMIM:610832	FANCB	2187	HP:0000286	Epicanthus
OMIM:610832	FANCB	2187	HP:0003006	Neuroblastoma
OMIM:610832	FANCB	2187	HP:0000007	Autosomal recessive inheritance
OMIM:610832	FANCB	2187	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	FANCB	2187	HP:0008897	Postnatal growth retardation
OMIM:610832	FANCB	2187	HP:0000470	Short neck
OMIM:610832	FANCB	2187	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	FANCB	2187	HP:0000957	Cafe-au-lait spot
OMIM:610832	FANCB	2187	HP:0001629	Ventricular septal defect
OMIM:610832	FANCB	2187	HP:0000252	Microcephaly
OMIM:610832	FANCB	2187	HP:0009778	Short thumb
OMIM:610832	FANCF	2188	HP:0002885	Medulloblastoma
OMIM:610832	FANCF	2188	HP:0001915	Aplastic anemia
OMIM:610832	FANCF	2188	HP:0000316	Hypertelorism
OMIM:610832	FANCF	2188	HP:0000286	Epicanthus
OMIM:610832	FANCF	2188	HP:0003006	Neuroblastoma
OMIM:610832	FANCF	2188	HP:0000007	Autosomal recessive inheritance
OMIM:610832	FANCF	2188	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	FANCF	2188	HP:0008897	Postnatal growth retardation
OMIM:610832	FANCF	2188	HP:0000470	Short neck
OMIM:610832	FANCF	2188	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	FANCF	2188	HP:0000957	Cafe-au-lait spot
OMIM:610832	FANCF	2188	HP:0001629	Ventricular septal defect
OMIM:610832	FANCF	2188	HP:0000252	Microcephaly
OMIM:610832	FANCF	2188	HP:0009778	Short thumb
OMIM:610832	FANCG	2189	HP:0002885	Medulloblastoma
OMIM:610832	FANCG	2189	HP:0001915	Aplastic anemia
OMIM:610832	FANCG	2189	HP:0000316	Hypertelorism
OMIM:610832	FANCG	2189	HP:0000286	Epicanthus
OMIM:610832	FANCG	2189	HP:0003006	Neuroblastoma
OMIM:610832	FANCG	2189	HP:0000007	Autosomal recessive inheritance
OMIM:610832	FANCG	2189	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	FANCG	2189	HP:0008897	Postnatal growth retardation
OMIM:610832	FANCG	2189	HP:0000470	Short neck
OMIM:610832	FANCG	2189	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	FANCG	2189	HP:0000957	Cafe-au-lait spot
OMIM:610832	FANCG	2189	HP:0001629	Ventricular septal defect
OMIM:610832	FANCG	2189	HP:0000252	Microcephaly
OMIM:610832	FANCG	2189	HP:0009778	Short thumb
OMIM:610832	FANCI	55215	HP:0002885	Medulloblastoma
OMIM:610832	FANCI	55215	HP:0001915	Aplastic anemia
OMIM:610832	FANCI	55215	HP:0000316	Hypertelorism
OMIM:610832	FANCI	55215	HP:0000286	Epicanthus
OMIM:610832	FANCI	55215	HP:0003006	Neuroblastoma
OMIM:610832	FANCI	55215	HP:0000007	Autosomal recessive inheritance
OMIM:610832	FANCI	55215	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	FANCI	55215	HP:0008897	Postnatal growth retardation
OMIM:610832	FANCI	55215	HP:0000470	Short neck
OMIM:610832	FANCI	55215	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	FANCI	55215	HP:0000957	Cafe-au-lait spot
OMIM:610832	FANCI	55215	HP:0001629	Ventricular septal defect
OMIM:610832	FANCI	55215	HP:0000252	Microcephaly
OMIM:610832	FANCI	55215	HP:0009778	Short thumb
OMIM:610832	FANCL	55120	HP:0002885	Medulloblastoma
OMIM:610832	FANCL	55120	HP:0001915	Aplastic anemia
OMIM:610832	FANCL	55120	HP:0000316	Hypertelorism
OMIM:610832	FANCL	55120	HP:0000286	Epicanthus
OMIM:610832	FANCL	55120	HP:0003006	Neuroblastoma
OMIM:610832	FANCL	55120	HP:0000007	Autosomal recessive inheritance
OMIM:610832	FANCL	55120	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	FANCL	55120	HP:0008897	Postnatal growth retardation
OMIM:610832	FANCL	55120	HP:0000470	Short neck
OMIM:610832	FANCL	55120	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	FANCL	55120	HP:0000957	Cafe-au-lait spot
OMIM:610832	FANCL	55120	HP:0001629	Ventricular septal defect
OMIM:610832	FANCL	55120	HP:0000252	Microcephaly
OMIM:610832	FANCL	55120	HP:0009778	Short thumb
OMIM:610832	PALB2	79728	HP:0002885	Medulloblastoma
OMIM:610832	PALB2	79728	HP:0001915	Aplastic anemia
OMIM:610832	PALB2	79728	HP:0000316	Hypertelorism
OMIM:610832	PALB2	79728	HP:0000286	Epicanthus
OMIM:610832	PALB2	79728	HP:0003006	Neuroblastoma
OMIM:610832	PALB2	79728	HP:0000007	Autosomal recessive inheritance
OMIM:610832	PALB2	79728	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	PALB2	79728	HP:0008897	Postnatal growth retardation
OMIM:610832	PALB2	79728	HP:0000470	Short neck
OMIM:610832	PALB2	79728	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	PALB2	79728	HP:0000957	Cafe-au-lait spot
OMIM:610832	PALB2	79728	HP:0001629	Ventricular septal defect
OMIM:610832	PALB2	79728	HP:0000252	Microcephaly
OMIM:610832	PALB2	79728	HP:0009778	Short thumb
OMIM:610832	SLX4	84464	HP:0002885	Medulloblastoma
OMIM:610832	SLX4	84464	HP:0001915	Aplastic anemia
OMIM:610832	SLX4	84464	HP:0000316	Hypertelorism
OMIM:610832	SLX4	84464	HP:0000286	Epicanthus
OMIM:610832	SLX4	84464	HP:0003006	Neuroblastoma
OMIM:610832	SLX4	84464	HP:0000007	Autosomal recessive inheritance
OMIM:610832	SLX4	84464	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	SLX4	84464	HP:0008897	Postnatal growth retardation
OMIM:610832	SLX4	84464	HP:0000470	Short neck
OMIM:610832	SLX4	84464	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	SLX4	84464	HP:0000957	Cafe-au-lait spot
OMIM:610832	SLX4	84464	HP:0001629	Ventricular septal defect
OMIM:610832	SLX4	84464	HP:0000252	Microcephaly
OMIM:610832	SLX4	84464	HP:0009778	Short thumb
OMIM:610832	BRIP1	83990	HP:0002885	Medulloblastoma
OMIM:610832	BRIP1	83990	HP:0001915	Aplastic anemia
OMIM:610832	BRIP1	83990	HP:0000316	Hypertelorism
OMIM:610832	BRIP1	83990	HP:0000286	Epicanthus
OMIM:610832	BRIP1	83990	HP:0003006	Neuroblastoma
OMIM:610832	BRIP1	83990	HP:0000007	Autosomal recessive inheritance
OMIM:610832	BRIP1	83990	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	BRIP1	83990	HP:0008897	Postnatal growth retardation
OMIM:610832	BRIP1	83990	HP:0000470	Short neck
OMIM:610832	BRIP1	83990	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	BRIP1	83990	HP:0000957	Cafe-au-lait spot
OMIM:610832	BRIP1	83990	HP:0001629	Ventricular septal defect
OMIM:610832	BRIP1	83990	HP:0000252	Microcephaly
OMIM:610832	BRIP1	83990	HP:0009778	Short thumb
OMIM:610832	ERCC4	2072	HP:0002885	Medulloblastoma
OMIM:610832	ERCC4	2072	HP:0001915	Aplastic anemia
OMIM:610832	ERCC4	2072	HP:0000316	Hypertelorism
OMIM:610832	ERCC4	2072	HP:0000286	Epicanthus
OMIM:610832	ERCC4	2072	HP:0003006	Neuroblastoma
OMIM:610832	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:610832	ERCC4	2072	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	ERCC4	2072	HP:0008897	Postnatal growth retardation
OMIM:610832	ERCC4	2072	HP:0000470	Short neck
OMIM:610832	ERCC4	2072	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	ERCC4	2072	HP:0000957	Cafe-au-lait spot
OMIM:610832	ERCC4	2072	HP:0001629	Ventricular septal defect
OMIM:610832	ERCC4	2072	HP:0000252	Microcephaly
OMIM:610832	ERCC4	2072	HP:0009778	Short thumb
OMIM:610832	FANCA	2175	HP:0002885	Medulloblastoma
OMIM:610832	FANCA	2175	HP:0001915	Aplastic anemia
OMIM:610832	FANCA	2175	HP:0000316	Hypertelorism
OMIM:610832	FANCA	2175	HP:0000286	Epicanthus
OMIM:610832	FANCA	2175	HP:0003006	Neuroblastoma
OMIM:610832	FANCA	2175	HP:0000007	Autosomal recessive inheritance
OMIM:610832	FANCA	2175	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:610832	FANCA	2175	HP:0008897	Postnatal growth retardation
OMIM:610832	FANCA	2175	HP:0000470	Short neck
OMIM:610832	FANCA	2175	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:610832	FANCA	2175	HP:0000957	Cafe-au-lait spot
OMIM:610832	FANCA	2175	HP:0001629	Ventricular septal defect
OMIM:610832	FANCA	2175	HP:0000252	Microcephaly
OMIM:610832	FANCA	2175	HP:0009778	Short thumb
OMIM:615916	TPM1	7168	HP:0004308	Ventricular arrhythmia
OMIM:615916	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:615916	CRYAB	1410	HP:0004308	Ventricular arrhythmia
OMIM:615916	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:615916	RAF1	5894	HP:0004308	Ventricular arrhythmia
OMIM:615916	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:615916	ACTC1	70	HP:0004308	Ventricular arrhythmia
OMIM:615916	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:615916	GATAD1	57798	HP:0004308	Ventricular arrhythmia
OMIM:615916	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:615916	LAMA4	3910	HP:0004308	Ventricular arrhythmia
OMIM:615916	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:615916	TMPO	7112	HP:0004308	Ventricular arrhythmia
OMIM:615916	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:615916	DES	1674	HP:0004308	Ventricular arrhythmia
OMIM:615916	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:615916	ABCC9	10060	HP:0004308	Ventricular arrhythmia
OMIM:615916	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:615916	MYH6	4624	HP:0004308	Ventricular arrhythmia
OMIM:615916	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:615916	MYH7	4625	HP:0004308	Ventricular arrhythmia
OMIM:615916	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:615916	LDB3	11155	HP:0004308	Ventricular arrhythmia
OMIM:615916	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:615916	ACTN2	88	HP:0004308	Ventricular arrhythmia
OMIM:615916	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:615916	TXNRD2	10587	HP:0004308	Ventricular arrhythmia
OMIM:615916	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:615916	DMD	1756	HP:0004308	Ventricular arrhythmia
OMIM:615916	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:615916	TNNC1	7134	HP:0004308	Ventricular arrhythmia
OMIM:615916	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:615916	PSEN1	5663	HP:0004308	Ventricular arrhythmia
OMIM:615916	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:615916	PSEN2	5664	HP:0004308	Ventricular arrhythmia
OMIM:615916	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:615916	TNNI3	7137	HP:0004308	Ventricular arrhythmia
OMIM:615916	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:615916	FHL2	2274	HP:0004308	Ventricular arrhythmia
OMIM:615916	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:615916	TNNT2	7139	HP:0004308	Ventricular arrhythmia
OMIM:615916	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:615916	DSG2	1829	HP:0004308	Ventricular arrhythmia
OMIM:615916	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:615916	PLN	5350	HP:0004308	Ventricular arrhythmia
OMIM:615916	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:615916	PRDM16	63976	HP:0004308	Ventricular arrhythmia
OMIM:615916	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:615916	TTN	7273	HP:0004308	Ventricular arrhythmia
OMIM:615916	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:615916	NEXN	91624	HP:0004308	Ventricular arrhythmia
OMIM:615916	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:615916	FKTN	2218	HP:0004308	Ventricular arrhythmia
OMIM:615916	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:615916	SGCD	6444	HP:0004308	Ventricular arrhythmia
OMIM:615916	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:615916	TCAP	8557	HP:0004308	Ventricular arrhythmia
OMIM:615916	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:615916	CSRP3	8048	HP:0004308	Ventricular arrhythmia
OMIM:615916	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:615916	RBM20	282996	HP:0004308	Ventricular arrhythmia
OMIM:615916	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:615916	SDHA	6389	HP:0004308	Ventricular arrhythmia
OMIM:615916	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:615916	TAZ	6901	HP:0004308	Ventricular arrhythmia
OMIM:615916	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:615916	VCL	7414	HP:0004308	Ventricular arrhythmia
OMIM:615916	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:615916	MYPN	84665	HP:0004308	Ventricular arrhythmia
OMIM:615916	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:615916	SCN5A	6331	HP:0004308	Ventricular arrhythmia
OMIM:615916	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:615916	BAG3	9531	HP:0004308	Ventricular arrhythmia
OMIM:615916	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:615916	DOLK	22845	HP:0004308	Ventricular arrhythmia
OMIM:615916	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:615916	MYBPC3	4607	HP:0004308	Ventricular arrhythmia
OMIM:615916	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:612164	KCNB1	3745	HP:0001258	Spastic paraplegia
OMIM:612164	KCNB1	3745	HP:0002376	Developmental regression
OMIM:612164	KCNB1	3745	HP:0002521	Hypsarrhythmia
OMIM:612164	KCNB1	3745	HP:0011344	Severe global developmental delay
OMIM:612164	KCNB1	3745	HP:0001337	Tremor
OMIM:612164	KCNB1	3745	HP:0002510	Spastic tetraplegia
OMIM:612164	KCNB1	3745	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	KCNB1	3745	HP:0007105	Infantile encephalopathy
OMIM:612164	KCNB1	3745	HP:0011097	Epileptic spasms
OMIM:612164	KCNB1	3745	HP:0002059	Cerebral atrophy
OMIM:612164	KCNB1	3745	HP:0002123	Generalized myoclonic seizures
OMIM:612164	KCNB1	3745	HP:0002133	Status epilepticus
OMIM:612164	KCNB1	3745	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	KCNB1	3745	HP:0000006	Autosomal dominant inheritance
OMIM:612164	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:612164	KCNB1	3745	HP:0010864	Intellectual disability, severe
OMIM:612164	KCNB1	3745	HP:0010851	EEG with burst suppression
OMIM:612164	KCNB1	3745	HP:0010818	Generalized tonic seizures
OMIM:612164	KCNB1	3745	HP:0003623	Neonatal onset
OMIM:612164	KCNB1	3745	HP:0001344	Absent speech
OMIM:612164	KCNB1	3745	HP:0006808	Cerebral hypomyelination
OMIM:612164	KCNB1	3745	HP:0001252	Muscular hypotonia
OMIM:612164	KCNB1	3745	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	PIGQ	9091	HP:0001258	Spastic paraplegia
OMIM:612164	PIGQ	9091	HP:0002376	Developmental regression
OMIM:612164	PIGQ	9091	HP:0002521	Hypsarrhythmia
OMIM:612164	PIGQ	9091	HP:0011344	Severe global developmental delay
OMIM:612164	PIGQ	9091	HP:0001337	Tremor
OMIM:612164	PIGQ	9091	HP:0002510	Spastic tetraplegia
OMIM:612164	PIGQ	9091	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	PIGQ	9091	HP:0007105	Infantile encephalopathy
OMIM:612164	PIGQ	9091	HP:0011097	Epileptic spasms
OMIM:612164	PIGQ	9091	HP:0002059	Cerebral atrophy
OMIM:612164	PIGQ	9091	HP:0002123	Generalized myoclonic seizures
OMIM:612164	PIGQ	9091	HP:0002133	Status epilepticus
OMIM:612164	PIGQ	9091	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	PIGQ	9091	HP:0000006	Autosomal dominant inheritance
OMIM:612164	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:612164	PIGQ	9091	HP:0010864	Intellectual disability, severe
OMIM:612164	PIGQ	9091	HP:0010851	EEG with burst suppression
OMIM:612164	PIGQ	9091	HP:0010818	Generalized tonic seizures
OMIM:612164	PIGQ	9091	HP:0003623	Neonatal onset
OMIM:612164	PIGQ	9091	HP:0001344	Absent speech
OMIM:612164	PIGQ	9091	HP:0006808	Cerebral hypomyelination
OMIM:612164	PIGQ	9091	HP:0001252	Muscular hypotonia
OMIM:612164	PIGQ	9091	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	SLC25A22	79751	HP:0001258	Spastic paraplegia
OMIM:612164	SLC25A22	79751	HP:0002376	Developmental regression
OMIM:612164	SLC25A22	79751	HP:0002521	Hypsarrhythmia
OMIM:612164	SLC25A22	79751	HP:0011344	Severe global developmental delay
OMIM:612164	SLC25A22	79751	HP:0001337	Tremor
OMIM:612164	SLC25A22	79751	HP:0002510	Spastic tetraplegia
OMIM:612164	SLC25A22	79751	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	SLC25A22	79751	HP:0007105	Infantile encephalopathy
OMIM:612164	SLC25A22	79751	HP:0011097	Epileptic spasms
OMIM:612164	SLC25A22	79751	HP:0002059	Cerebral atrophy
OMIM:612164	SLC25A22	79751	HP:0002123	Generalized myoclonic seizures
OMIM:612164	SLC25A22	79751	HP:0002133	Status epilepticus
OMIM:612164	SLC25A22	79751	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	SLC25A22	79751	HP:0000006	Autosomal dominant inheritance
OMIM:612164	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:612164	SLC25A22	79751	HP:0010864	Intellectual disability, severe
OMIM:612164	SLC25A22	79751	HP:0010851	EEG with burst suppression
OMIM:612164	SLC25A22	79751	HP:0010818	Generalized tonic seizures
OMIM:612164	SLC25A22	79751	HP:0003623	Neonatal onset
OMIM:612164	SLC25A22	79751	HP:0001344	Absent speech
OMIM:612164	SLC25A22	79751	HP:0006808	Cerebral hypomyelination
OMIM:612164	SLC25A22	79751	HP:0001252	Muscular hypotonia
OMIM:612164	SLC25A22	79751	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	GABRG2	2566	HP:0001258	Spastic paraplegia
OMIM:612164	GABRG2	2566	HP:0002376	Developmental regression
OMIM:612164	GABRG2	2566	HP:0002521	Hypsarrhythmia
OMIM:612164	GABRG2	2566	HP:0011344	Severe global developmental delay
OMIM:612164	GABRG2	2566	HP:0001337	Tremor
OMIM:612164	GABRG2	2566	HP:0002510	Spastic tetraplegia
OMIM:612164	GABRG2	2566	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	GABRG2	2566	HP:0007105	Infantile encephalopathy
OMIM:612164	GABRG2	2566	HP:0011097	Epileptic spasms
OMIM:612164	GABRG2	2566	HP:0002059	Cerebral atrophy
OMIM:612164	GABRG2	2566	HP:0002123	Generalized myoclonic seizures
OMIM:612164	GABRG2	2566	HP:0002133	Status epilepticus
OMIM:612164	GABRG2	2566	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:612164	GABRG2	2566	HP:0200134	Epileptic encephalopathy
OMIM:612164	GABRG2	2566	HP:0010864	Intellectual disability, severe
OMIM:612164	GABRG2	2566	HP:0010851	EEG with burst suppression
OMIM:612164	GABRG2	2566	HP:0010818	Generalized tonic seizures
OMIM:612164	GABRG2	2566	HP:0003623	Neonatal onset
OMIM:612164	GABRG2	2566	HP:0001344	Absent speech
OMIM:612164	GABRG2	2566	HP:0006808	Cerebral hypomyelination
OMIM:612164	GABRG2	2566	HP:0001252	Muscular hypotonia
OMIM:612164	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	CDKL5	6792	HP:0001258	Spastic paraplegia
OMIM:612164	CDKL5	6792	HP:0002376	Developmental regression
OMIM:612164	CDKL5	6792	HP:0002521	Hypsarrhythmia
OMIM:612164	CDKL5	6792	HP:0011344	Severe global developmental delay
OMIM:612164	CDKL5	6792	HP:0001337	Tremor
OMIM:612164	CDKL5	6792	HP:0002510	Spastic tetraplegia
OMIM:612164	CDKL5	6792	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	CDKL5	6792	HP:0007105	Infantile encephalopathy
OMIM:612164	CDKL5	6792	HP:0011097	Epileptic spasms
OMIM:612164	CDKL5	6792	HP:0002059	Cerebral atrophy
OMIM:612164	CDKL5	6792	HP:0002123	Generalized myoclonic seizures
OMIM:612164	CDKL5	6792	HP:0002133	Status epilepticus
OMIM:612164	CDKL5	6792	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	CDKL5	6792	HP:0000006	Autosomal dominant inheritance
OMIM:612164	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:612164	CDKL5	6792	HP:0010864	Intellectual disability, severe
OMIM:612164	CDKL5	6792	HP:0010851	EEG with burst suppression
OMIM:612164	CDKL5	6792	HP:0010818	Generalized tonic seizures
OMIM:612164	CDKL5	6792	HP:0003623	Neonatal onset
OMIM:612164	CDKL5	6792	HP:0001344	Absent speech
OMIM:612164	CDKL5	6792	HP:0006808	Cerebral hypomyelination
OMIM:612164	CDKL5	6792	HP:0001252	Muscular hypotonia
OMIM:612164	CDKL5	6792	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	KCNQ2	3785	HP:0001258	Spastic paraplegia
OMIM:612164	KCNQ2	3785	HP:0002376	Developmental regression
OMIM:612164	KCNQ2	3785	HP:0002521	Hypsarrhythmia
OMIM:612164	KCNQ2	3785	HP:0011344	Severe global developmental delay
OMIM:612164	KCNQ2	3785	HP:0001337	Tremor
OMIM:612164	KCNQ2	3785	HP:0002510	Spastic tetraplegia
OMIM:612164	KCNQ2	3785	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	KCNQ2	3785	HP:0007105	Infantile encephalopathy
OMIM:612164	KCNQ2	3785	HP:0011097	Epileptic spasms
OMIM:612164	KCNQ2	3785	HP:0002059	Cerebral atrophy
OMIM:612164	KCNQ2	3785	HP:0002123	Generalized myoclonic seizures
OMIM:612164	KCNQ2	3785	HP:0002133	Status epilepticus
OMIM:612164	KCNQ2	3785	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:612164	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:612164	KCNQ2	3785	HP:0010864	Intellectual disability, severe
OMIM:612164	KCNQ2	3785	HP:0010851	EEG with burst suppression
OMIM:612164	KCNQ2	3785	HP:0010818	Generalized tonic seizures
OMIM:612164	KCNQ2	3785	HP:0003623	Neonatal onset
OMIM:612164	KCNQ2	3785	HP:0001344	Absent speech
OMIM:612164	KCNQ2	3785	HP:0006808	Cerebral hypomyelination
OMIM:612164	KCNQ2	3785	HP:0001252	Muscular hypotonia
OMIM:612164	KCNQ2	3785	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	SLC13A5	284111	HP:0001258	Spastic paraplegia
OMIM:612164	SLC13A5	284111	HP:0002376	Developmental regression
OMIM:612164	SLC13A5	284111	HP:0002521	Hypsarrhythmia
OMIM:612164	SLC13A5	284111	HP:0011344	Severe global developmental delay
OMIM:612164	SLC13A5	284111	HP:0001337	Tremor
OMIM:612164	SLC13A5	284111	HP:0002510	Spastic tetraplegia
OMIM:612164	SLC13A5	284111	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	SLC13A5	284111	HP:0007105	Infantile encephalopathy
OMIM:612164	SLC13A5	284111	HP:0011097	Epileptic spasms
OMIM:612164	SLC13A5	284111	HP:0002059	Cerebral atrophy
OMIM:612164	SLC13A5	284111	HP:0002123	Generalized myoclonic seizures
OMIM:612164	SLC13A5	284111	HP:0002133	Status epilepticus
OMIM:612164	SLC13A5	284111	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	SLC13A5	284111	HP:0000006	Autosomal dominant inheritance
OMIM:612164	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:612164	SLC13A5	284111	HP:0010864	Intellectual disability, severe
OMIM:612164	SLC13A5	284111	HP:0010851	EEG with burst suppression
OMIM:612164	SLC13A5	284111	HP:0010818	Generalized tonic seizures
OMIM:612164	SLC13A5	284111	HP:0003623	Neonatal onset
OMIM:612164	SLC13A5	284111	HP:0001344	Absent speech
OMIM:612164	SLC13A5	284111	HP:0006808	Cerebral hypomyelination
OMIM:612164	SLC13A5	284111	HP:0001252	Muscular hypotonia
OMIM:612164	SLC13A5	284111	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	SIK1	150094	HP:0001258	Spastic paraplegia
OMIM:612164	SIK1	150094	HP:0002376	Developmental regression
OMIM:612164	SIK1	150094	HP:0002521	Hypsarrhythmia
OMIM:612164	SIK1	150094	HP:0011344	Severe global developmental delay
OMIM:612164	SIK1	150094	HP:0001337	Tremor
OMIM:612164	SIK1	150094	HP:0002510	Spastic tetraplegia
OMIM:612164	SIK1	150094	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	SIK1	150094	HP:0007105	Infantile encephalopathy
OMIM:612164	SIK1	150094	HP:0011097	Epileptic spasms
OMIM:612164	SIK1	150094	HP:0002059	Cerebral atrophy
OMIM:612164	SIK1	150094	HP:0002123	Generalized myoclonic seizures
OMIM:612164	SIK1	150094	HP:0002133	Status epilepticus
OMIM:612164	SIK1	150094	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	SIK1	150094	HP:0000006	Autosomal dominant inheritance
OMIM:612164	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:612164	SIK1	150094	HP:0010864	Intellectual disability, severe
OMIM:612164	SIK1	150094	HP:0010851	EEG with burst suppression
OMIM:612164	SIK1	150094	HP:0010818	Generalized tonic seizures
OMIM:612164	SIK1	150094	HP:0003623	Neonatal onset
OMIM:612164	SIK1	150094	HP:0001344	Absent speech
OMIM:612164	SIK1	150094	HP:0006808	Cerebral hypomyelination
OMIM:612164	SIK1	150094	HP:0001252	Muscular hypotonia
OMIM:612164	SIK1	150094	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	HCN1	348980	HP:0001258	Spastic paraplegia
OMIM:612164	HCN1	348980	HP:0002376	Developmental regression
OMIM:612164	HCN1	348980	HP:0002521	Hypsarrhythmia
OMIM:612164	HCN1	348980	HP:0011344	Severe global developmental delay
OMIM:612164	HCN1	348980	HP:0001337	Tremor
OMIM:612164	HCN1	348980	HP:0002510	Spastic tetraplegia
OMIM:612164	HCN1	348980	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	HCN1	348980	HP:0007105	Infantile encephalopathy
OMIM:612164	HCN1	348980	HP:0011097	Epileptic spasms
OMIM:612164	HCN1	348980	HP:0002059	Cerebral atrophy
OMIM:612164	HCN1	348980	HP:0002123	Generalized myoclonic seizures
OMIM:612164	HCN1	348980	HP:0002133	Status epilepticus
OMIM:612164	HCN1	348980	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	HCN1	348980	HP:0000006	Autosomal dominant inheritance
OMIM:612164	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:612164	HCN1	348980	HP:0010864	Intellectual disability, severe
OMIM:612164	HCN1	348980	HP:0010851	EEG with burst suppression
OMIM:612164	HCN1	348980	HP:0010818	Generalized tonic seizures
OMIM:612164	HCN1	348980	HP:0003623	Neonatal onset
OMIM:612164	HCN1	348980	HP:0001344	Absent speech
OMIM:612164	HCN1	348980	HP:0006808	Cerebral hypomyelination
OMIM:612164	HCN1	348980	HP:0001252	Muscular hypotonia
OMIM:612164	HCN1	348980	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	SCN1A	6323	HP:0001258	Spastic paraplegia
OMIM:612164	SCN1A	6323	HP:0002376	Developmental regression
OMIM:612164	SCN1A	6323	HP:0002521	Hypsarrhythmia
OMIM:612164	SCN1A	6323	HP:0011344	Severe global developmental delay
OMIM:612164	SCN1A	6323	HP:0001337	Tremor
OMIM:612164	SCN1A	6323	HP:0002510	Spastic tetraplegia
OMIM:612164	SCN1A	6323	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	SCN1A	6323	HP:0007105	Infantile encephalopathy
OMIM:612164	SCN1A	6323	HP:0011097	Epileptic spasms
OMIM:612164	SCN1A	6323	HP:0002059	Cerebral atrophy
OMIM:612164	SCN1A	6323	HP:0002123	Generalized myoclonic seizures
OMIM:612164	SCN1A	6323	HP:0002133	Status epilepticus
OMIM:612164	SCN1A	6323	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:612164	SCN1A	6323	HP:0200134	Epileptic encephalopathy
OMIM:612164	SCN1A	6323	HP:0010864	Intellectual disability, severe
OMIM:612164	SCN1A	6323	HP:0010851	EEG with burst suppression
OMIM:612164	SCN1A	6323	HP:0010818	Generalized tonic seizures
OMIM:612164	SCN1A	6323	HP:0003623	Neonatal onset
OMIM:612164	SCN1A	6323	HP:0001344	Absent speech
OMIM:612164	SCN1A	6323	HP:0006808	Cerebral hypomyelination
OMIM:612164	SCN1A	6323	HP:0001252	Muscular hypotonia
OMIM:612164	SCN1A	6323	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	PNKP	11284	HP:0001258	Spastic paraplegia
OMIM:612164	PNKP	11284	HP:0002376	Developmental regression
OMIM:612164	PNKP	11284	HP:0002521	Hypsarrhythmia
OMIM:612164	PNKP	11284	HP:0011344	Severe global developmental delay
OMIM:612164	PNKP	11284	HP:0001337	Tremor
OMIM:612164	PNKP	11284	HP:0002510	Spastic tetraplegia
OMIM:612164	PNKP	11284	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	PNKP	11284	HP:0007105	Infantile encephalopathy
OMIM:612164	PNKP	11284	HP:0011097	Epileptic spasms
OMIM:612164	PNKP	11284	HP:0002059	Cerebral atrophy
OMIM:612164	PNKP	11284	HP:0002123	Generalized myoclonic seizures
OMIM:612164	PNKP	11284	HP:0002133	Status epilepticus
OMIM:612164	PNKP	11284	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	PNKP	11284	HP:0000006	Autosomal dominant inheritance
OMIM:612164	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:612164	PNKP	11284	HP:0010864	Intellectual disability, severe
OMIM:612164	PNKP	11284	HP:0010851	EEG with burst suppression
OMIM:612164	PNKP	11284	HP:0010818	Generalized tonic seizures
OMIM:612164	PNKP	11284	HP:0003623	Neonatal onset
OMIM:612164	PNKP	11284	HP:0001344	Absent speech
OMIM:612164	PNKP	11284	HP:0006808	Cerebral hypomyelination
OMIM:612164	PNKP	11284	HP:0001252	Muscular hypotonia
OMIM:612164	PNKP	11284	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	SCN1B	6324	HP:0001258	Spastic paraplegia
OMIM:612164	SCN1B	6324	HP:0002376	Developmental regression
OMIM:612164	SCN1B	6324	HP:0002521	Hypsarrhythmia
OMIM:612164	SCN1B	6324	HP:0011344	Severe global developmental delay
OMIM:612164	SCN1B	6324	HP:0001337	Tremor
OMIM:612164	SCN1B	6324	HP:0002510	Spastic tetraplegia
OMIM:612164	SCN1B	6324	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	SCN1B	6324	HP:0007105	Infantile encephalopathy
OMIM:612164	SCN1B	6324	HP:0011097	Epileptic spasms
OMIM:612164	SCN1B	6324	HP:0002059	Cerebral atrophy
OMIM:612164	SCN1B	6324	HP:0002123	Generalized myoclonic seizures
OMIM:612164	SCN1B	6324	HP:0002133	Status epilepticus
OMIM:612164	SCN1B	6324	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:612164	SCN1B	6324	HP:0200134	Epileptic encephalopathy
OMIM:612164	SCN1B	6324	HP:0010864	Intellectual disability, severe
OMIM:612164	SCN1B	6324	HP:0010851	EEG with burst suppression
OMIM:612164	SCN1B	6324	HP:0010818	Generalized tonic seizures
OMIM:612164	SCN1B	6324	HP:0003623	Neonatal onset
OMIM:612164	SCN1B	6324	HP:0001344	Absent speech
OMIM:612164	SCN1B	6324	HP:0006808	Cerebral hypomyelination
OMIM:612164	SCN1B	6324	HP:0001252	Muscular hypotonia
OMIM:612164	SCN1B	6324	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	SCN2A	6326	HP:0001258	Spastic paraplegia
OMIM:612164	SCN2A	6326	HP:0002376	Developmental regression
OMIM:612164	SCN2A	6326	HP:0002521	Hypsarrhythmia
OMIM:612164	SCN2A	6326	HP:0011344	Severe global developmental delay
OMIM:612164	SCN2A	6326	HP:0001337	Tremor
OMIM:612164	SCN2A	6326	HP:0002510	Spastic tetraplegia
OMIM:612164	SCN2A	6326	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	SCN2A	6326	HP:0007105	Infantile encephalopathy
OMIM:612164	SCN2A	6326	HP:0011097	Epileptic spasms
OMIM:612164	SCN2A	6326	HP:0002059	Cerebral atrophy
OMIM:612164	SCN2A	6326	HP:0002123	Generalized myoclonic seizures
OMIM:612164	SCN2A	6326	HP:0002133	Status epilepticus
OMIM:612164	SCN2A	6326	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:612164	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:612164	SCN2A	6326	HP:0010864	Intellectual disability, severe
OMIM:612164	SCN2A	6326	HP:0010851	EEG with burst suppression
OMIM:612164	SCN2A	6326	HP:0010818	Generalized tonic seizures
OMIM:612164	SCN2A	6326	HP:0003623	Neonatal onset
OMIM:612164	SCN2A	6326	HP:0001344	Absent speech
OMIM:612164	SCN2A	6326	HP:0006808	Cerebral hypomyelination
OMIM:612164	SCN2A	6326	HP:0001252	Muscular hypotonia
OMIM:612164	SCN2A	6326	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	PCDH19	57526	HP:0001258	Spastic paraplegia
OMIM:612164	PCDH19	57526	HP:0002376	Developmental regression
OMIM:612164	PCDH19	57526	HP:0002521	Hypsarrhythmia
OMIM:612164	PCDH19	57526	HP:0011344	Severe global developmental delay
OMIM:612164	PCDH19	57526	HP:0001337	Tremor
OMIM:612164	PCDH19	57526	HP:0002510	Spastic tetraplegia
OMIM:612164	PCDH19	57526	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	PCDH19	57526	HP:0007105	Infantile encephalopathy
OMIM:612164	PCDH19	57526	HP:0011097	Epileptic spasms
OMIM:612164	PCDH19	57526	HP:0002059	Cerebral atrophy
OMIM:612164	PCDH19	57526	HP:0002123	Generalized myoclonic seizures
OMIM:612164	PCDH19	57526	HP:0002133	Status epilepticus
OMIM:612164	PCDH19	57526	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	PCDH19	57526	HP:0000006	Autosomal dominant inheritance
OMIM:612164	PCDH19	57526	HP:0200134	Epileptic encephalopathy
OMIM:612164	PCDH19	57526	HP:0010864	Intellectual disability, severe
OMIM:612164	PCDH19	57526	HP:0010851	EEG with burst suppression
OMIM:612164	PCDH19	57526	HP:0010818	Generalized tonic seizures
OMIM:612164	PCDH19	57526	HP:0003623	Neonatal onset
OMIM:612164	PCDH19	57526	HP:0001344	Absent speech
OMIM:612164	PCDH19	57526	HP:0006808	Cerebral hypomyelination
OMIM:612164	PCDH19	57526	HP:0001252	Muscular hypotonia
OMIM:612164	PCDH19	57526	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	GNAO1	2775	HP:0001258	Spastic paraplegia
OMIM:612164	GNAO1	2775	HP:0002376	Developmental regression
OMIM:612164	GNAO1	2775	HP:0002521	Hypsarrhythmia
OMIM:612164	GNAO1	2775	HP:0011344	Severe global developmental delay
OMIM:612164	GNAO1	2775	HP:0001337	Tremor
OMIM:612164	GNAO1	2775	HP:0002510	Spastic tetraplegia
OMIM:612164	GNAO1	2775	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	GNAO1	2775	HP:0007105	Infantile encephalopathy
OMIM:612164	GNAO1	2775	HP:0011097	Epileptic spasms
OMIM:612164	GNAO1	2775	HP:0002059	Cerebral atrophy
OMIM:612164	GNAO1	2775	HP:0002123	Generalized myoclonic seizures
OMIM:612164	GNAO1	2775	HP:0002133	Status epilepticus
OMIM:612164	GNAO1	2775	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	GNAO1	2775	HP:0000006	Autosomal dominant inheritance
OMIM:612164	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:612164	GNAO1	2775	HP:0010864	Intellectual disability, severe
OMIM:612164	GNAO1	2775	HP:0010851	EEG with burst suppression
OMIM:612164	GNAO1	2775	HP:0010818	Generalized tonic seizures
OMIM:612164	GNAO1	2775	HP:0003623	Neonatal onset
OMIM:612164	GNAO1	2775	HP:0001344	Absent speech
OMIM:612164	GNAO1	2775	HP:0006808	Cerebral hypomyelination
OMIM:612164	GNAO1	2775	HP:0001252	Muscular hypotonia
OMIM:612164	GNAO1	2775	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	NECAP1	25977	HP:0001258	Spastic paraplegia
OMIM:612164	NECAP1	25977	HP:0002376	Developmental regression
OMIM:612164	NECAP1	25977	HP:0002521	Hypsarrhythmia
OMIM:612164	NECAP1	25977	HP:0011344	Severe global developmental delay
OMIM:612164	NECAP1	25977	HP:0001337	Tremor
OMIM:612164	NECAP1	25977	HP:0002510	Spastic tetraplegia
OMIM:612164	NECAP1	25977	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	NECAP1	25977	HP:0007105	Infantile encephalopathy
OMIM:612164	NECAP1	25977	HP:0011097	Epileptic spasms
OMIM:612164	NECAP1	25977	HP:0002059	Cerebral atrophy
OMIM:612164	NECAP1	25977	HP:0002123	Generalized myoclonic seizures
OMIM:612164	NECAP1	25977	HP:0002133	Status epilepticus
OMIM:612164	NECAP1	25977	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	NECAP1	25977	HP:0000006	Autosomal dominant inheritance
OMIM:612164	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:612164	NECAP1	25977	HP:0010864	Intellectual disability, severe
OMIM:612164	NECAP1	25977	HP:0010851	EEG with burst suppression
OMIM:612164	NECAP1	25977	HP:0010818	Generalized tonic seizures
OMIM:612164	NECAP1	25977	HP:0003623	Neonatal onset
OMIM:612164	NECAP1	25977	HP:0001344	Absent speech
OMIM:612164	NECAP1	25977	HP:0006808	Cerebral hypomyelination
OMIM:612164	NECAP1	25977	HP:0001252	Muscular hypotonia
OMIM:612164	NECAP1	25977	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	GABRA1	2554	HP:0001258	Spastic paraplegia
OMIM:612164	GABRA1	2554	HP:0002376	Developmental regression
OMIM:612164	GABRA1	2554	HP:0002521	Hypsarrhythmia
OMIM:612164	GABRA1	2554	HP:0011344	Severe global developmental delay
OMIM:612164	GABRA1	2554	HP:0001337	Tremor
OMIM:612164	GABRA1	2554	HP:0002510	Spastic tetraplegia
OMIM:612164	GABRA1	2554	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	GABRA1	2554	HP:0007105	Infantile encephalopathy
OMIM:612164	GABRA1	2554	HP:0011097	Epileptic spasms
OMIM:612164	GABRA1	2554	HP:0002059	Cerebral atrophy
OMIM:612164	GABRA1	2554	HP:0002123	Generalized myoclonic seizures
OMIM:612164	GABRA1	2554	HP:0002133	Status epilepticus
OMIM:612164	GABRA1	2554	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:612164	GABRA1	2554	HP:0200134	Epileptic encephalopathy
OMIM:612164	GABRA1	2554	HP:0010864	Intellectual disability, severe
OMIM:612164	GABRA1	2554	HP:0010851	EEG with burst suppression
OMIM:612164	GABRA1	2554	HP:0010818	Generalized tonic seizures
OMIM:612164	GABRA1	2554	HP:0003623	Neonatal onset
OMIM:612164	GABRA1	2554	HP:0001344	Absent speech
OMIM:612164	GABRA1	2554	HP:0006808	Cerebral hypomyelination
OMIM:612164	GABRA1	2554	HP:0001252	Muscular hypotonia
OMIM:612164	GABRA1	2554	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	STXBP1	6812	HP:0001258	Spastic paraplegia
OMIM:612164	STXBP1	6812	HP:0002376	Developmental regression
OMIM:612164	STXBP1	6812	HP:0002521	Hypsarrhythmia
OMIM:612164	STXBP1	6812	HP:0011344	Severe global developmental delay
OMIM:612164	STXBP1	6812	HP:0001337	Tremor
OMIM:612164	STXBP1	6812	HP:0002510	Spastic tetraplegia
OMIM:612164	STXBP1	6812	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	STXBP1	6812	HP:0007105	Infantile encephalopathy
OMIM:612164	STXBP1	6812	HP:0011097	Epileptic spasms
OMIM:612164	STXBP1	6812	HP:0002059	Cerebral atrophy
OMIM:612164	STXBP1	6812	HP:0002123	Generalized myoclonic seizures
OMIM:612164	STXBP1	6812	HP:0002133	Status epilepticus
OMIM:612164	STXBP1	6812	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	STXBP1	6812	HP:0000006	Autosomal dominant inheritance
OMIM:612164	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:612164	STXBP1	6812	HP:0010864	Intellectual disability, severe
OMIM:612164	STXBP1	6812	HP:0010851	EEG with burst suppression
OMIM:612164	STXBP1	6812	HP:0010818	Generalized tonic seizures
OMIM:612164	STXBP1	6812	HP:0003623	Neonatal onset
OMIM:612164	STXBP1	6812	HP:0001344	Absent speech
OMIM:612164	STXBP1	6812	HP:0006808	Cerebral hypomyelination
OMIM:612164	STXBP1	6812	HP:0001252	Muscular hypotonia
OMIM:612164	STXBP1	6812	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	ARX	170302	HP:0001258	Spastic paraplegia
OMIM:612164	ARX	170302	HP:0002376	Developmental regression
OMIM:612164	ARX	170302	HP:0002521	Hypsarrhythmia
OMIM:612164	ARX	170302	HP:0011344	Severe global developmental delay
OMIM:612164	ARX	170302	HP:0001337	Tremor
OMIM:612164	ARX	170302	HP:0002510	Spastic tetraplegia
OMIM:612164	ARX	170302	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	ARX	170302	HP:0007105	Infantile encephalopathy
OMIM:612164	ARX	170302	HP:0011097	Epileptic spasms
OMIM:612164	ARX	170302	HP:0002059	Cerebral atrophy
OMIM:612164	ARX	170302	HP:0002123	Generalized myoclonic seizures
OMIM:612164	ARX	170302	HP:0002133	Status epilepticus
OMIM:612164	ARX	170302	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	ARX	170302	HP:0000006	Autosomal dominant inheritance
OMIM:612164	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:612164	ARX	170302	HP:0010864	Intellectual disability, severe
OMIM:612164	ARX	170302	HP:0010851	EEG with burst suppression
OMIM:612164	ARX	170302	HP:0010818	Generalized tonic seizures
OMIM:612164	ARX	170302	HP:0003623	Neonatal onset
OMIM:612164	ARX	170302	HP:0001344	Absent speech
OMIM:612164	ARX	170302	HP:0006808	Cerebral hypomyelination
OMIM:612164	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:612164	ARX	170302	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	WWOX	51741	HP:0001258	Spastic paraplegia
OMIM:612164	WWOX	51741	HP:0002376	Developmental regression
OMIM:612164	WWOX	51741	HP:0002521	Hypsarrhythmia
OMIM:612164	WWOX	51741	HP:0011344	Severe global developmental delay
OMIM:612164	WWOX	51741	HP:0001337	Tremor
OMIM:612164	WWOX	51741	HP:0002510	Spastic tetraplegia
OMIM:612164	WWOX	51741	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	WWOX	51741	HP:0007105	Infantile encephalopathy
OMIM:612164	WWOX	51741	HP:0011097	Epileptic spasms
OMIM:612164	WWOX	51741	HP:0002059	Cerebral atrophy
OMIM:612164	WWOX	51741	HP:0002123	Generalized myoclonic seizures
OMIM:612164	WWOX	51741	HP:0002133	Status epilepticus
OMIM:612164	WWOX	51741	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	WWOX	51741	HP:0000006	Autosomal dominant inheritance
OMIM:612164	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:612164	WWOX	51741	HP:0010864	Intellectual disability, severe
OMIM:612164	WWOX	51741	HP:0010851	EEG with burst suppression
OMIM:612164	WWOX	51741	HP:0010818	Generalized tonic seizures
OMIM:612164	WWOX	51741	HP:0003623	Neonatal onset
OMIM:612164	WWOX	51741	HP:0001344	Absent speech
OMIM:612164	WWOX	51741	HP:0006808	Cerebral hypomyelination
OMIM:612164	WWOX	51741	HP:0001252	Muscular hypotonia
OMIM:612164	WWOX	51741	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	CASK	8573	HP:0001258	Spastic paraplegia
OMIM:612164	CASK	8573	HP:0002376	Developmental regression
OMIM:612164	CASK	8573	HP:0002521	Hypsarrhythmia
OMIM:612164	CASK	8573	HP:0011344	Severe global developmental delay
OMIM:612164	CASK	8573	HP:0001337	Tremor
OMIM:612164	CASK	8573	HP:0002510	Spastic tetraplegia
OMIM:612164	CASK	8573	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	CASK	8573	HP:0007105	Infantile encephalopathy
OMIM:612164	CASK	8573	HP:0011097	Epileptic spasms
OMIM:612164	CASK	8573	HP:0002059	Cerebral atrophy
OMIM:612164	CASK	8573	HP:0002123	Generalized myoclonic seizures
OMIM:612164	CASK	8573	HP:0002133	Status epilepticus
OMIM:612164	CASK	8573	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	CASK	8573	HP:0000006	Autosomal dominant inheritance
OMIM:612164	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:612164	CASK	8573	HP:0010864	Intellectual disability, severe
OMIM:612164	CASK	8573	HP:0010851	EEG with burst suppression
OMIM:612164	CASK	8573	HP:0010818	Generalized tonic seizures
OMIM:612164	CASK	8573	HP:0003623	Neonatal onset
OMIM:612164	CASK	8573	HP:0001344	Absent speech
OMIM:612164	CASK	8573	HP:0006808	Cerebral hypomyelination
OMIM:612164	CASK	8573	HP:0001252	Muscular hypotonia
OMIM:612164	CASK	8573	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	SCN8A	6334	HP:0001258	Spastic paraplegia
OMIM:612164	SCN8A	6334	HP:0002376	Developmental regression
OMIM:612164	SCN8A	6334	HP:0002521	Hypsarrhythmia
OMIM:612164	SCN8A	6334	HP:0011344	Severe global developmental delay
OMIM:612164	SCN8A	6334	HP:0001337	Tremor
OMIM:612164	SCN8A	6334	HP:0002510	Spastic tetraplegia
OMIM:612164	SCN8A	6334	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	SCN8A	6334	HP:0007105	Infantile encephalopathy
OMIM:612164	SCN8A	6334	HP:0011097	Epileptic spasms
OMIM:612164	SCN8A	6334	HP:0002059	Cerebral atrophy
OMIM:612164	SCN8A	6334	HP:0002123	Generalized myoclonic seizures
OMIM:612164	SCN8A	6334	HP:0002133	Status epilepticus
OMIM:612164	SCN8A	6334	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	SCN8A	6334	HP:0000006	Autosomal dominant inheritance
OMIM:612164	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:612164	SCN8A	6334	HP:0010864	Intellectual disability, severe
OMIM:612164	SCN8A	6334	HP:0010851	EEG with burst suppression
OMIM:612164	SCN8A	6334	HP:0010818	Generalized tonic seizures
OMIM:612164	SCN8A	6334	HP:0003623	Neonatal onset
OMIM:612164	SCN8A	6334	HP:0001344	Absent speech
OMIM:612164	SCN8A	6334	HP:0006808	Cerebral hypomyelination
OMIM:612164	SCN8A	6334	HP:0001252	Muscular hypotonia
OMIM:612164	SCN8A	6334	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	DNM1	1759	HP:0001258	Spastic paraplegia
OMIM:612164	DNM1	1759	HP:0002376	Developmental regression
OMIM:612164	DNM1	1759	HP:0002521	Hypsarrhythmia
OMIM:612164	DNM1	1759	HP:0011344	Severe global developmental delay
OMIM:612164	DNM1	1759	HP:0001337	Tremor
OMIM:612164	DNM1	1759	HP:0002510	Spastic tetraplegia
OMIM:612164	DNM1	1759	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	DNM1	1759	HP:0007105	Infantile encephalopathy
OMIM:612164	DNM1	1759	HP:0011097	Epileptic spasms
OMIM:612164	DNM1	1759	HP:0002059	Cerebral atrophy
OMIM:612164	DNM1	1759	HP:0002123	Generalized myoclonic seizures
OMIM:612164	DNM1	1759	HP:0002133	Status epilepticus
OMIM:612164	DNM1	1759	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	DNM1	1759	HP:0000006	Autosomal dominant inheritance
OMIM:612164	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:612164	DNM1	1759	HP:0010864	Intellectual disability, severe
OMIM:612164	DNM1	1759	HP:0010851	EEG with burst suppression
OMIM:612164	DNM1	1759	HP:0010818	Generalized tonic seizures
OMIM:612164	DNM1	1759	HP:0003623	Neonatal onset
OMIM:612164	DNM1	1759	HP:0001344	Absent speech
OMIM:612164	DNM1	1759	HP:0006808	Cerebral hypomyelination
OMIM:612164	DNM1	1759	HP:0001252	Muscular hypotonia
OMIM:612164	DNM1	1759	HP:0002069	Generalized tonic-clonic seizures
OMIM:612164	SCN9A	6335	HP:0001258	Spastic paraplegia
OMIM:612164	SCN9A	6335	HP:0002376	Developmental regression
OMIM:612164	SCN9A	6335	HP:0002521	Hypsarrhythmia
OMIM:612164	SCN9A	6335	HP:0011344	Severe global developmental delay
OMIM:612164	SCN9A	6335	HP:0001337	Tremor
OMIM:612164	SCN9A	6335	HP:0002510	Spastic tetraplegia
OMIM:612164	SCN9A	6335	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612164	SCN9A	6335	HP:0007105	Infantile encephalopathy
OMIM:612164	SCN9A	6335	HP:0011097	Epileptic spasms
OMIM:612164	SCN9A	6335	HP:0002059	Cerebral atrophy
OMIM:612164	SCN9A	6335	HP:0002123	Generalized myoclonic seizures
OMIM:612164	SCN9A	6335	HP:0002133	Status epilepticus
OMIM:612164	SCN9A	6335	HP:0001151	Impaired horizontal smooth pursuit
OMIM:612164	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:612164	SCN9A	6335	HP:0200134	Epileptic encephalopathy
OMIM:612164	SCN9A	6335	HP:0010864	Intellectual disability, severe
OMIM:612164	SCN9A	6335	HP:0010851	EEG with burst suppression
OMIM:612164	SCN9A	6335	HP:0010818	Generalized tonic seizures
OMIM:612164	SCN9A	6335	HP:0003623	Neonatal onset
OMIM:612164	SCN9A	6335	HP:0001344	Absent speech
OMIM:612164	SCN9A	6335	HP:0006808	Cerebral hypomyelination
OMIM:612164	SCN9A	6335	HP:0001252	Muscular hypotonia
OMIM:612164	SCN9A	6335	HP:0002069	Generalized tonic-clonic seizures
OMIM:209500	HR	55806	HP:0000007	Autosomal recessive inheritance
OMIM:615226	ZNF141	7700	HP:0000007	Autosomal recessive inheritance
OMIM:615226	ZNF141	7700	HP:0001162	Postaxial hand polydactyly
ORPHANET:261295	BMP2	650	HP:0000431	Wide nasal bridge
ORPHANET:261295	BMP2	650	HP:0000256	Macrocephaly
ORPHANET:261295	BMP2	650	HP:0000286	Epicanthus
ORPHANET:261295	BMP2	650	HP:0000293	Full cheeks
ORPHANET:261295	BMP2	650	HP:0001631	Atria septal defect
ORPHANET:261295	BMP2	650	HP:0001841	Preaxial foot polydactyly
ORPHANET:261295	BMP2	650	HP:0000391	Thickened helices
ORPHANET:261295	BMP2	650	HP:0009602	Abnormality of thumb phalanx
ORPHANET:261295	BMP2	650	HP:0000768	Pectus carinatum
ORPHANET:261295	BMP2	650	HP:0001252	Muscular hypotonia
ORPHANET:261295	BMP2	650	HP:0002119	Ventriculomegaly
ORPHANET:261295	BMP2	650	HP:0000343	Long philtrum
ORPHANET:261295	BMP2	650	HP:0100543	Cognitive impairment
ORPHANET:261295	BMP2	650	HP:0001250	Seizures
ORPHANET:261295	BMP2	650	HP:0000494	Downslanted palpebral fissures
ORPHANET:261295	BMP2	650	HP:0004322	Short stature
ORPHANET:261295	BMP2	650	HP:0011675	Arrhythmia
ORPHANET:261295	BMP2	650	HP:0000160	Narrow mouth
ORPHANET:261295	BMP2	650	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:261295	BMP2	650	HP:0000316	Hypertelorism
OMIM:246900	DLD	1738	HP:0001942	Metabolic acidosis
OMIM:246900	DLD	1738	HP:0003355	Aminoaciduria
OMIM:246900	DLD	1738	HP:0001399	Hepatic failure
OMIM:246900	DLD	1738	HP:0001298	Encephalopathy
OMIM:246900	DLD	1738	HP:0002240	Hepatomegaly
OMIM:246900	DLD	1738	HP:0003828	Variable expressivity
OMIM:246900	DLD	1738	HP:0001943	Hypoglycemia
OMIM:246900	DLD	1738	HP:0000252	Microcephaly
OMIM:246900	DLD	1738	HP:0001254	Lethargy
OMIM:246900	DLD	1738	HP:0001250	Seizures
OMIM:246900	DLD	1738	HP:0001252	Muscular hypotonia
OMIM:246900	DLD	1738	HP:0011968	Feeding difficulties
OMIM:246900	DLD	1738	HP:0001251	Ataxia
OMIM:246900	DLD	1738	HP:0001332	Dystonia
OMIM:246900	DLD	1738	HP:0001410	Decreased liver function
OMIM:246900	DLD	1738	HP:0002910	Elevated hepatic transaminases
OMIM:246900	DLD	1738	HP:0000007	Autosomal recessive inheritance
OMIM:246900	DLD	1738	HP:0003128	Lactic acidosis
OMIM:246900	DLD	1738	HP:0001263	Global developmental delay
OMIM:246900	DLD	1738	HP:0100543	Cognitive impairment
OMIM:246900	DLD	1738	HP:0001288	Gait disturbance
OMIM:246900	DLD	1738	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300558	ZNF711	7552	HP:0002307	Drooling
OMIM:300558	ZNF711	7552	HP:0000218	High palate
OMIM:300558	ZNF711	7552	HP:0012368	Flat face
OMIM:300558	ZNF711	7552	HP:0002194	Delayed gross motor development
OMIM:300558	ZNF711	7552	HP:0000252	Microcephaly
OMIM:300558	ZNF711	7552	HP:0000718	Aggressive behavior
OMIM:300558	ZNF711	7552	HP:0000736	Short attention span
OMIM:300558	ZNF711	7552	HP:0000219	Thin upper lip vermilion
OMIM:300558	ZNF711	7552	HP:0000194	Open mouth
OMIM:300558	ZNF711	7552	HP:0001419	X-linked recessive inheritance
OMIM:300558	ZNF711	7552	HP:0003828	Variable expressivity
OMIM:300558	ZNF711	7552	HP:0000750	Delayed speech and language development
OMIM:300558	ZNF711	7552	HP:0001250	Seizures
OMIM:300558	ZNF711	7552	HP:0000709	Psychosis
OMIM:300558	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300558	ZNF711	7552	HP:0003196	Short nose
OMIM:300558	ZNF711	7552	HP:0000739	Anxiety
OMIM:300558	ZNF711	7552	HP:0000463	Anteverted nares
OMIM:300558	ZNF711	7552	HP:0000713	Agitation
OMIM:300558	ZNF711	7552	HP:0000752	Hyperactivity
OMIM:300558	ZNF711	7552	HP:0000400	Macrotia
OMIM:300558	IL1RAPL1	11141	HP:0002307	Drooling
OMIM:300558	IL1RAPL1	11141	HP:0000218	High palate
OMIM:300558	IL1RAPL1	11141	HP:0012368	Flat face
OMIM:300558	IL1RAPL1	11141	HP:0002194	Delayed gross motor development
OMIM:300558	IL1RAPL1	11141	HP:0000252	Microcephaly
OMIM:300558	IL1RAPL1	11141	HP:0000718	Aggressive behavior
OMIM:300558	IL1RAPL1	11141	HP:0000736	Short attention span
OMIM:300558	IL1RAPL1	11141	HP:0000219	Thin upper lip vermilion
OMIM:300558	IL1RAPL1	11141	HP:0000194	Open mouth
OMIM:300558	IL1RAPL1	11141	HP:0001419	X-linked recessive inheritance
OMIM:300558	IL1RAPL1	11141	HP:0003828	Variable expressivity
OMIM:300558	IL1RAPL1	11141	HP:0000750	Delayed speech and language development
OMIM:300558	IL1RAPL1	11141	HP:0001250	Seizures
OMIM:300558	IL1RAPL1	11141	HP:0000709	Psychosis
OMIM:300558	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300558	IL1RAPL1	11141	HP:0003196	Short nose
OMIM:300558	IL1RAPL1	11141	HP:0000739	Anxiety
OMIM:300558	IL1RAPL1	11141	HP:0000463	Anteverted nares
OMIM:300558	IL1RAPL1	11141	HP:0000713	Agitation
OMIM:300558	IL1RAPL1	11141	HP:0000752	Hyperactivity
OMIM:300558	IL1RAPL1	11141	HP:0000400	Macrotia
OMIM:300558	ACSL4	2182	HP:0002307	Drooling
OMIM:300558	ACSL4	2182	HP:0000218	High palate
OMIM:300558	ACSL4	2182	HP:0012368	Flat face
OMIM:300558	ACSL4	2182	HP:0002194	Delayed gross motor development
OMIM:300558	ACSL4	2182	HP:0000252	Microcephaly
OMIM:300558	ACSL4	2182	HP:0000718	Aggressive behavior
OMIM:300558	ACSL4	2182	HP:0000736	Short attention span
OMIM:300558	ACSL4	2182	HP:0000219	Thin upper lip vermilion
OMIM:300558	ACSL4	2182	HP:0000194	Open mouth
OMIM:300558	ACSL4	2182	HP:0001419	X-linked recessive inheritance
OMIM:300558	ACSL4	2182	HP:0003828	Variable expressivity
OMIM:300558	ACSL4	2182	HP:0000750	Delayed speech and language development
OMIM:300558	ACSL4	2182	HP:0001250	Seizures
OMIM:300558	ACSL4	2182	HP:0000709	Psychosis
OMIM:300558	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300558	ACSL4	2182	HP:0003196	Short nose
OMIM:300558	ACSL4	2182	HP:0000739	Anxiety
OMIM:300558	ACSL4	2182	HP:0000463	Anteverted nares
OMIM:300558	ACSL4	2182	HP:0000713	Agitation
OMIM:300558	ACSL4	2182	HP:0000752	Hyperactivity
OMIM:300558	ACSL4	2182	HP:0000400	Macrotia
OMIM:300558	PAK3	5063	HP:0002307	Drooling
OMIM:300558	PAK3	5063	HP:0000218	High palate
OMIM:300558	PAK3	5063	HP:0012368	Flat face
OMIM:300558	PAK3	5063	HP:0002194	Delayed gross motor development
OMIM:300558	PAK3	5063	HP:0000252	Microcephaly
OMIM:300558	PAK3	5063	HP:0000718	Aggressive behavior
OMIM:300558	PAK3	5063	HP:0000736	Short attention span
OMIM:300558	PAK3	5063	HP:0000219	Thin upper lip vermilion
OMIM:300558	PAK3	5063	HP:0000194	Open mouth
OMIM:300558	PAK3	5063	HP:0001419	X-linked recessive inheritance
OMIM:300558	PAK3	5063	HP:0003828	Variable expressivity
OMIM:300558	PAK3	5063	HP:0000750	Delayed speech and language development
OMIM:300558	PAK3	5063	HP:0001250	Seizures
OMIM:300558	PAK3	5063	HP:0000709	Psychosis
OMIM:300558	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300558	PAK3	5063	HP:0003196	Short nose
OMIM:300558	PAK3	5063	HP:0000739	Anxiety
OMIM:300558	PAK3	5063	HP:0000463	Anteverted nares
OMIM:300558	PAK3	5063	HP:0000713	Agitation
OMIM:300558	PAK3	5063	HP:0000752	Hyperactivity
OMIM:300558	PAK3	5063	HP:0000400	Macrotia
OMIM:300558	SYP	6855	HP:0002307	Drooling
OMIM:300558	SYP	6855	HP:0000218	High palate
OMIM:300558	SYP	6855	HP:0012368	Flat face
OMIM:300558	SYP	6855	HP:0002194	Delayed gross motor development
OMIM:300558	SYP	6855	HP:0000252	Microcephaly
OMIM:300558	SYP	6855	HP:0000718	Aggressive behavior
OMIM:300558	SYP	6855	HP:0000736	Short attention span
OMIM:300558	SYP	6855	HP:0000219	Thin upper lip vermilion
OMIM:300558	SYP	6855	HP:0000194	Open mouth
OMIM:300558	SYP	6855	HP:0001419	X-linked recessive inheritance
OMIM:300558	SYP	6855	HP:0003828	Variable expressivity
OMIM:300558	SYP	6855	HP:0000750	Delayed speech and language development
OMIM:300558	SYP	6855	HP:0001250	Seizures
OMIM:300558	SYP	6855	HP:0000709	Psychosis
OMIM:300558	SYP	6855	HP:0001249	Intellectual disability
OMIM:300558	SYP	6855	HP:0003196	Short nose
OMIM:300558	SYP	6855	HP:0000739	Anxiety
OMIM:300558	SYP	6855	HP:0000463	Anteverted nares
OMIM:300558	SYP	6855	HP:0000713	Agitation
OMIM:300558	SYP	6855	HP:0000752	Hyperactivity
OMIM:300558	SYP	6855	HP:0000400	Macrotia
OMIM:300558	FTSJ1	24140	HP:0002307	Drooling
OMIM:300558	FTSJ1	24140	HP:0000218	High palate
OMIM:300558	FTSJ1	24140	HP:0012368	Flat face
OMIM:300558	FTSJ1	24140	HP:0002194	Delayed gross motor development
OMIM:300558	FTSJ1	24140	HP:0000252	Microcephaly
OMIM:300558	FTSJ1	24140	HP:0000718	Aggressive behavior
OMIM:300558	FTSJ1	24140	HP:0000736	Short attention span
OMIM:300558	FTSJ1	24140	HP:0000219	Thin upper lip vermilion
OMIM:300558	FTSJ1	24140	HP:0000194	Open mouth
OMIM:300558	FTSJ1	24140	HP:0001419	X-linked recessive inheritance
OMIM:300558	FTSJ1	24140	HP:0003828	Variable expressivity
OMIM:300558	FTSJ1	24140	HP:0000750	Delayed speech and language development
OMIM:300558	FTSJ1	24140	HP:0001250	Seizures
OMIM:300558	FTSJ1	24140	HP:0000709	Psychosis
OMIM:300558	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300558	FTSJ1	24140	HP:0003196	Short nose
OMIM:300558	FTSJ1	24140	HP:0000739	Anxiety
OMIM:300558	FTSJ1	24140	HP:0000463	Anteverted nares
OMIM:300558	FTSJ1	24140	HP:0000713	Agitation
OMIM:300558	FTSJ1	24140	HP:0000752	Hyperactivity
OMIM:300558	FTSJ1	24140	HP:0000400	Macrotia
OMIM:300558	DLG3	1741	HP:0002307	Drooling
OMIM:300558	DLG3	1741	HP:0000218	High palate
OMIM:300558	DLG3	1741	HP:0012368	Flat face
OMIM:300558	DLG3	1741	HP:0002194	Delayed gross motor development
OMIM:300558	DLG3	1741	HP:0000252	Microcephaly
OMIM:300558	DLG3	1741	HP:0000718	Aggressive behavior
OMIM:300558	DLG3	1741	HP:0000736	Short attention span
OMIM:300558	DLG3	1741	HP:0000219	Thin upper lip vermilion
OMIM:300558	DLG3	1741	HP:0000194	Open mouth
OMIM:300558	DLG3	1741	HP:0001419	X-linked recessive inheritance
OMIM:300558	DLG3	1741	HP:0003828	Variable expressivity
OMIM:300558	DLG3	1741	HP:0000750	Delayed speech and language development
OMIM:300558	DLG3	1741	HP:0001250	Seizures
OMIM:300558	DLG3	1741	HP:0000709	Psychosis
OMIM:300558	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300558	DLG3	1741	HP:0003196	Short nose
OMIM:300558	DLG3	1741	HP:0000739	Anxiety
OMIM:300558	DLG3	1741	HP:0000463	Anteverted nares
OMIM:300558	DLG3	1741	HP:0000713	Agitation
OMIM:300558	DLG3	1741	HP:0000752	Hyperactivity
OMIM:300558	DLG3	1741	HP:0000400	Macrotia
OMIM:300558	PTCHD1	139411	HP:0002307	Drooling
OMIM:300558	PTCHD1	139411	HP:0000218	High palate
OMIM:300558	PTCHD1	139411	HP:0012368	Flat face
OMIM:300558	PTCHD1	139411	HP:0002194	Delayed gross motor development
OMIM:300558	PTCHD1	139411	HP:0000252	Microcephaly
OMIM:300558	PTCHD1	139411	HP:0000718	Aggressive behavior
OMIM:300558	PTCHD1	139411	HP:0000736	Short attention span
OMIM:300558	PTCHD1	139411	HP:0000219	Thin upper lip vermilion
OMIM:300558	PTCHD1	139411	HP:0000194	Open mouth
OMIM:300558	PTCHD1	139411	HP:0001419	X-linked recessive inheritance
OMIM:300558	PTCHD1	139411	HP:0003828	Variable expressivity
OMIM:300558	PTCHD1	139411	HP:0000750	Delayed speech and language development
OMIM:300558	PTCHD1	139411	HP:0001250	Seizures
OMIM:300558	PTCHD1	139411	HP:0000709	Psychosis
OMIM:300558	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300558	PTCHD1	139411	HP:0003196	Short nose
OMIM:300558	PTCHD1	139411	HP:0000739	Anxiety
OMIM:300558	PTCHD1	139411	HP:0000463	Anteverted nares
OMIM:300558	PTCHD1	139411	HP:0000713	Agitation
OMIM:300558	PTCHD1	139411	HP:0000752	Hyperactivity
OMIM:300558	PTCHD1	139411	HP:0000400	Macrotia
OMIM:300558	UPF3B	65109	HP:0002307	Drooling
OMIM:300558	UPF3B	65109	HP:0000218	High palate
OMIM:300558	UPF3B	65109	HP:0012368	Flat face
OMIM:300558	UPF3B	65109	HP:0002194	Delayed gross motor development
OMIM:300558	UPF3B	65109	HP:0000252	Microcephaly
OMIM:300558	UPF3B	65109	HP:0000718	Aggressive behavior
OMIM:300558	UPF3B	65109	HP:0000736	Short attention span
OMIM:300558	UPF3B	65109	HP:0000219	Thin upper lip vermilion
OMIM:300558	UPF3B	65109	HP:0000194	Open mouth
OMIM:300558	UPF3B	65109	HP:0001419	X-linked recessive inheritance
OMIM:300558	UPF3B	65109	HP:0003828	Variable expressivity
OMIM:300558	UPF3B	65109	HP:0000750	Delayed speech and language development
OMIM:300558	UPF3B	65109	HP:0001250	Seizures
OMIM:300558	UPF3B	65109	HP:0000709	Psychosis
OMIM:300558	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300558	UPF3B	65109	HP:0003196	Short nose
OMIM:300558	UPF3B	65109	HP:0000739	Anxiety
OMIM:300558	UPF3B	65109	HP:0000463	Anteverted nares
OMIM:300558	UPF3B	65109	HP:0000713	Agitation
OMIM:300558	UPF3B	65109	HP:0000752	Hyperactivity
OMIM:300558	UPF3B	65109	HP:0000400	Macrotia
OMIM:300558	ZNF81	347344	HP:0002307	Drooling
OMIM:300558	ZNF81	347344	HP:0000218	High palate
OMIM:300558	ZNF81	347344	HP:0012368	Flat face
OMIM:300558	ZNF81	347344	HP:0002194	Delayed gross motor development
OMIM:300558	ZNF81	347344	HP:0000252	Microcephaly
OMIM:300558	ZNF81	347344	HP:0000718	Aggressive behavior
OMIM:300558	ZNF81	347344	HP:0000736	Short attention span
OMIM:300558	ZNF81	347344	HP:0000219	Thin upper lip vermilion
OMIM:300558	ZNF81	347344	HP:0000194	Open mouth
OMIM:300558	ZNF81	347344	HP:0001419	X-linked recessive inheritance
OMIM:300558	ZNF81	347344	HP:0003828	Variable expressivity
OMIM:300558	ZNF81	347344	HP:0000750	Delayed speech and language development
OMIM:300558	ZNF81	347344	HP:0001250	Seizures
OMIM:300558	ZNF81	347344	HP:0000709	Psychosis
OMIM:300558	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300558	ZNF81	347344	HP:0003196	Short nose
OMIM:300558	ZNF81	347344	HP:0000739	Anxiety
OMIM:300558	ZNF81	347344	HP:0000463	Anteverted nares
OMIM:300558	ZNF81	347344	HP:0000713	Agitation
OMIM:300558	ZNF81	347344	HP:0000752	Hyperactivity
OMIM:300558	ZNF81	347344	HP:0000400	Macrotia
OMIM:300558	RAB39B	116442	HP:0002307	Drooling
OMIM:300558	RAB39B	116442	HP:0000218	High palate
OMIM:300558	RAB39B	116442	HP:0012368	Flat face
OMIM:300558	RAB39B	116442	HP:0002194	Delayed gross motor development
OMIM:300558	RAB39B	116442	HP:0000252	Microcephaly
OMIM:300558	RAB39B	116442	HP:0000718	Aggressive behavior
OMIM:300558	RAB39B	116442	HP:0000736	Short attention span
OMIM:300558	RAB39B	116442	HP:0000219	Thin upper lip vermilion
OMIM:300558	RAB39B	116442	HP:0000194	Open mouth
OMIM:300558	RAB39B	116442	HP:0001419	X-linked recessive inheritance
OMIM:300558	RAB39B	116442	HP:0003828	Variable expressivity
OMIM:300558	RAB39B	116442	HP:0000750	Delayed speech and language development
OMIM:300558	RAB39B	116442	HP:0001250	Seizures
OMIM:300558	RAB39B	116442	HP:0000709	Psychosis
OMIM:300558	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300558	RAB39B	116442	HP:0003196	Short nose
OMIM:300558	RAB39B	116442	HP:0000739	Anxiety
OMIM:300558	RAB39B	116442	HP:0000463	Anteverted nares
OMIM:300558	RAB39B	116442	HP:0000713	Agitation
OMIM:300558	RAB39B	116442	HP:0000752	Hyperactivity
OMIM:300558	RAB39B	116442	HP:0000400	Macrotia
OMIM:300558	DMD	1756	HP:0002307	Drooling
OMIM:300558	DMD	1756	HP:0000218	High palate
OMIM:300558	DMD	1756	HP:0012368	Flat face
OMIM:300558	DMD	1756	HP:0002194	Delayed gross motor development
OMIM:300558	DMD	1756	HP:0000252	Microcephaly
OMIM:300558	DMD	1756	HP:0000718	Aggressive behavior
OMIM:300558	DMD	1756	HP:0000736	Short attention span
OMIM:300558	DMD	1756	HP:0000219	Thin upper lip vermilion
OMIM:300558	DMD	1756	HP:0000194	Open mouth
OMIM:300558	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:300558	DMD	1756	HP:0003828	Variable expressivity
OMIM:300558	DMD	1756	HP:0000750	Delayed speech and language development
OMIM:300558	DMD	1756	HP:0001250	Seizures
OMIM:300558	DMD	1756	HP:0000709	Psychosis
OMIM:300558	DMD	1756	HP:0001249	Intellectual disability
OMIM:300558	DMD	1756	HP:0003196	Short nose
OMIM:300558	DMD	1756	HP:0000739	Anxiety
OMIM:300558	DMD	1756	HP:0000463	Anteverted nares
OMIM:300558	DMD	1756	HP:0000713	Agitation
OMIM:300558	DMD	1756	HP:0000752	Hyperactivity
OMIM:300558	DMD	1756	HP:0000400	Macrotia
OMIM:300558	MAGT1	84061	HP:0002307	Drooling
OMIM:300558	MAGT1	84061	HP:0000218	High palate
OMIM:300558	MAGT1	84061	HP:0012368	Flat face
OMIM:300558	MAGT1	84061	HP:0002194	Delayed gross motor development
OMIM:300558	MAGT1	84061	HP:0000252	Microcephaly
OMIM:300558	MAGT1	84061	HP:0000718	Aggressive behavior
OMIM:300558	MAGT1	84061	HP:0000736	Short attention span
OMIM:300558	MAGT1	84061	HP:0000219	Thin upper lip vermilion
OMIM:300558	MAGT1	84061	HP:0000194	Open mouth
OMIM:300558	MAGT1	84061	HP:0001419	X-linked recessive inheritance
OMIM:300558	MAGT1	84061	HP:0003828	Variable expressivity
OMIM:300558	MAGT1	84061	HP:0000750	Delayed speech and language development
OMIM:300558	MAGT1	84061	HP:0001250	Seizures
OMIM:300558	MAGT1	84061	HP:0000709	Psychosis
OMIM:300558	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300558	MAGT1	84061	HP:0003196	Short nose
OMIM:300558	MAGT1	84061	HP:0000739	Anxiety
OMIM:300558	MAGT1	84061	HP:0000463	Anteverted nares
OMIM:300558	MAGT1	84061	HP:0000713	Agitation
OMIM:300558	MAGT1	84061	HP:0000752	Hyperactivity
OMIM:300558	MAGT1	84061	HP:0000400	Macrotia
OMIM:300558	MID2	11043	HP:0002307	Drooling
OMIM:300558	MID2	11043	HP:0000218	High palate
OMIM:300558	MID2	11043	HP:0012368	Flat face
OMIM:300558	MID2	11043	HP:0002194	Delayed gross motor development
OMIM:300558	MID2	11043	HP:0000252	Microcephaly
OMIM:300558	MID2	11043	HP:0000718	Aggressive behavior
OMIM:300558	MID2	11043	HP:0000736	Short attention span
OMIM:300558	MID2	11043	HP:0000219	Thin upper lip vermilion
OMIM:300558	MID2	11043	HP:0000194	Open mouth
OMIM:300558	MID2	11043	HP:0001419	X-linked recessive inheritance
OMIM:300558	MID2	11043	HP:0003828	Variable expressivity
OMIM:300558	MID2	11043	HP:0000750	Delayed speech and language development
OMIM:300558	MID2	11043	HP:0001250	Seizures
OMIM:300558	MID2	11043	HP:0000709	Psychosis
OMIM:300558	MID2	11043	HP:0001249	Intellectual disability
OMIM:300558	MID2	11043	HP:0003196	Short nose
OMIM:300558	MID2	11043	HP:0000739	Anxiety
OMIM:300558	MID2	11043	HP:0000463	Anteverted nares
OMIM:300558	MID2	11043	HP:0000713	Agitation
OMIM:300558	MID2	11043	HP:0000752	Hyperactivity
OMIM:300558	MID2	11043	HP:0000400	Macrotia
OMIM:300558	GDI1	2664	HP:0002307	Drooling
OMIM:300558	GDI1	2664	HP:0000218	High palate
OMIM:300558	GDI1	2664	HP:0012368	Flat face
OMIM:300558	GDI1	2664	HP:0002194	Delayed gross motor development
OMIM:300558	GDI1	2664	HP:0000252	Microcephaly
OMIM:300558	GDI1	2664	HP:0000718	Aggressive behavior
OMIM:300558	GDI1	2664	HP:0000736	Short attention span
OMIM:300558	GDI1	2664	HP:0000219	Thin upper lip vermilion
OMIM:300558	GDI1	2664	HP:0000194	Open mouth
OMIM:300558	GDI1	2664	HP:0001419	X-linked recessive inheritance
OMIM:300558	GDI1	2664	HP:0003828	Variable expressivity
OMIM:300558	GDI1	2664	HP:0000750	Delayed speech and language development
OMIM:300558	GDI1	2664	HP:0001250	Seizures
OMIM:300558	GDI1	2664	HP:0000709	Psychosis
OMIM:300558	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300558	GDI1	2664	HP:0003196	Short nose
OMIM:300558	GDI1	2664	HP:0000739	Anxiety
OMIM:300558	GDI1	2664	HP:0000463	Anteverted nares
OMIM:300558	GDI1	2664	HP:0000713	Agitation
OMIM:300558	GDI1	2664	HP:0000752	Hyperactivity
OMIM:300558	GDI1	2664	HP:0000400	Macrotia
OMIM:300558	ZNF41	7592	HP:0002307	Drooling
OMIM:300558	ZNF41	7592	HP:0000218	High palate
OMIM:300558	ZNF41	7592	HP:0012368	Flat face
OMIM:300558	ZNF41	7592	HP:0002194	Delayed gross motor development
OMIM:300558	ZNF41	7592	HP:0000252	Microcephaly
OMIM:300558	ZNF41	7592	HP:0000718	Aggressive behavior
OMIM:300558	ZNF41	7592	HP:0000736	Short attention span
OMIM:300558	ZNF41	7592	HP:0000219	Thin upper lip vermilion
OMIM:300558	ZNF41	7592	HP:0000194	Open mouth
OMIM:300558	ZNF41	7592	HP:0001419	X-linked recessive inheritance
OMIM:300558	ZNF41	7592	HP:0003828	Variable expressivity
OMIM:300558	ZNF41	7592	HP:0000750	Delayed speech and language development
OMIM:300558	ZNF41	7592	HP:0001250	Seizures
OMIM:300558	ZNF41	7592	HP:0000709	Psychosis
OMIM:300558	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300558	ZNF41	7592	HP:0003196	Short nose
OMIM:300558	ZNF41	7592	HP:0000739	Anxiety
OMIM:300558	ZNF41	7592	HP:0000463	Anteverted nares
OMIM:300558	ZNF41	7592	HP:0000713	Agitation
OMIM:300558	ZNF41	7592	HP:0000752	Hyperactivity
OMIM:300558	ZNF41	7592	HP:0000400	Macrotia
OMIM:300558	MECP2	4204	HP:0002307	Drooling
OMIM:300558	MECP2	4204	HP:0000218	High palate
OMIM:300558	MECP2	4204	HP:0012368	Flat face
OMIM:300558	MECP2	4204	HP:0002194	Delayed gross motor development
OMIM:300558	MECP2	4204	HP:0000252	Microcephaly
OMIM:300558	MECP2	4204	HP:0000718	Aggressive behavior
OMIM:300558	MECP2	4204	HP:0000736	Short attention span
OMIM:300558	MECP2	4204	HP:0000219	Thin upper lip vermilion
OMIM:300558	MECP2	4204	HP:0000194	Open mouth
OMIM:300558	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300558	MECP2	4204	HP:0003828	Variable expressivity
OMIM:300558	MECP2	4204	HP:0000750	Delayed speech and language development
OMIM:300558	MECP2	4204	HP:0001250	Seizures
OMIM:300558	MECP2	4204	HP:0000709	Psychosis
OMIM:300558	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300558	MECP2	4204	HP:0003196	Short nose
OMIM:300558	MECP2	4204	HP:0000739	Anxiety
OMIM:300558	MECP2	4204	HP:0000463	Anteverted nares
OMIM:300558	MECP2	4204	HP:0000713	Agitation
OMIM:300558	MECP2	4204	HP:0000752	Hyperactivity
OMIM:300558	MECP2	4204	HP:0000400	Macrotia
OMIM:300558	HCFC1	3054	HP:0002307	Drooling
OMIM:300558	HCFC1	3054	HP:0000218	High palate
OMIM:300558	HCFC1	3054	HP:0012368	Flat face
OMIM:300558	HCFC1	3054	HP:0002194	Delayed gross motor development
OMIM:300558	HCFC1	3054	HP:0000252	Microcephaly
OMIM:300558	HCFC1	3054	HP:0000718	Aggressive behavior
OMIM:300558	HCFC1	3054	HP:0000736	Short attention span
OMIM:300558	HCFC1	3054	HP:0000219	Thin upper lip vermilion
OMIM:300558	HCFC1	3054	HP:0000194	Open mouth
OMIM:300558	HCFC1	3054	HP:0001419	X-linked recessive inheritance
OMIM:300558	HCFC1	3054	HP:0003828	Variable expressivity
OMIM:300558	HCFC1	3054	HP:0000750	Delayed speech and language development
OMIM:300558	HCFC1	3054	HP:0001250	Seizures
OMIM:300558	HCFC1	3054	HP:0000709	Psychosis
OMIM:300558	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300558	HCFC1	3054	HP:0003196	Short nose
OMIM:300558	HCFC1	3054	HP:0000739	Anxiety
OMIM:300558	HCFC1	3054	HP:0000463	Anteverted nares
OMIM:300558	HCFC1	3054	HP:0000713	Agitation
OMIM:300558	HCFC1	3054	HP:0000752	Hyperactivity
OMIM:300558	HCFC1	3054	HP:0000400	Macrotia
OMIM:300558	USP9X	8239	HP:0002307	Drooling
OMIM:300558	USP9X	8239	HP:0000218	High palate
OMIM:300558	USP9X	8239	HP:0012368	Flat face
OMIM:300558	USP9X	8239	HP:0002194	Delayed gross motor development
OMIM:300558	USP9X	8239	HP:0000252	Microcephaly
OMIM:300558	USP9X	8239	HP:0000718	Aggressive behavior
OMIM:300558	USP9X	8239	HP:0000736	Short attention span
OMIM:300558	USP9X	8239	HP:0000219	Thin upper lip vermilion
OMIM:300558	USP9X	8239	HP:0000194	Open mouth
OMIM:300558	USP9X	8239	HP:0001419	X-linked recessive inheritance
OMIM:300558	USP9X	8239	HP:0003828	Variable expressivity
OMIM:300558	USP9X	8239	HP:0000750	Delayed speech and language development
OMIM:300558	USP9X	8239	HP:0001250	Seizures
OMIM:300558	USP9X	8239	HP:0000709	Psychosis
OMIM:300558	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300558	USP9X	8239	HP:0003196	Short nose
OMIM:300558	USP9X	8239	HP:0000739	Anxiety
OMIM:300558	USP9X	8239	HP:0000463	Anteverted nares
OMIM:300558	USP9X	8239	HP:0000713	Agitation
OMIM:300558	USP9X	8239	HP:0000752	Hyperactivity
OMIM:300558	USP9X	8239	HP:0000400	Macrotia
OMIM:300558	MED12	9968	HP:0002307	Drooling
OMIM:300558	MED12	9968	HP:0000218	High palate
OMIM:300558	MED12	9968	HP:0012368	Flat face
OMIM:300558	MED12	9968	HP:0002194	Delayed gross motor development
OMIM:300558	MED12	9968	HP:0000252	Microcephaly
OMIM:300558	MED12	9968	HP:0000718	Aggressive behavior
OMIM:300558	MED12	9968	HP:0000736	Short attention span
OMIM:300558	MED12	9968	HP:0000219	Thin upper lip vermilion
OMIM:300558	MED12	9968	HP:0000194	Open mouth
OMIM:300558	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:300558	MED12	9968	HP:0003828	Variable expressivity
OMIM:300558	MED12	9968	HP:0000750	Delayed speech and language development
OMIM:300558	MED12	9968	HP:0001250	Seizures
OMIM:300558	MED12	9968	HP:0000709	Psychosis
OMIM:300558	MED12	9968	HP:0001249	Intellectual disability
OMIM:300558	MED12	9968	HP:0003196	Short nose
OMIM:300558	MED12	9968	HP:0000739	Anxiety
OMIM:300558	MED12	9968	HP:0000463	Anteverted nares
OMIM:300558	MED12	9968	HP:0000713	Agitation
OMIM:300558	MED12	9968	HP:0000752	Hyperactivity
OMIM:300558	MED12	9968	HP:0000400	Macrotia
OMIM:300558	ZNF674	641339	HP:0002307	Drooling
OMIM:300558	ZNF674	641339	HP:0000218	High palate
OMIM:300558	ZNF674	641339	HP:0012368	Flat face
OMIM:300558	ZNF674	641339	HP:0002194	Delayed gross motor development
OMIM:300558	ZNF674	641339	HP:0000252	Microcephaly
OMIM:300558	ZNF674	641339	HP:0000718	Aggressive behavior
OMIM:300558	ZNF674	641339	HP:0000736	Short attention span
OMIM:300558	ZNF674	641339	HP:0000219	Thin upper lip vermilion
OMIM:300558	ZNF674	641339	HP:0000194	Open mouth
OMIM:300558	ZNF674	641339	HP:0001419	X-linked recessive inheritance
OMIM:300558	ZNF674	641339	HP:0003828	Variable expressivity
OMIM:300558	ZNF674	641339	HP:0000750	Delayed speech and language development
OMIM:300558	ZNF674	641339	HP:0001250	Seizures
OMIM:300558	ZNF674	641339	HP:0000709	Psychosis
OMIM:300558	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300558	ZNF674	641339	HP:0003196	Short nose
OMIM:300558	ZNF674	641339	HP:0000739	Anxiety
OMIM:300558	ZNF674	641339	HP:0000463	Anteverted nares
OMIM:300558	ZNF674	641339	HP:0000713	Agitation
OMIM:300558	ZNF674	641339	HP:0000752	Hyperactivity
OMIM:300558	ZNF674	641339	HP:0000400	Macrotia
OMIM:300558	ARHGEF6	9459	HP:0002307	Drooling
OMIM:300558	ARHGEF6	9459	HP:0000218	High palate
OMIM:300558	ARHGEF6	9459	HP:0012368	Flat face
OMIM:300558	ARHGEF6	9459	HP:0002194	Delayed gross motor development
OMIM:300558	ARHGEF6	9459	HP:0000252	Microcephaly
OMIM:300558	ARHGEF6	9459	HP:0000718	Aggressive behavior
OMIM:300558	ARHGEF6	9459	HP:0000736	Short attention span
OMIM:300558	ARHGEF6	9459	HP:0000219	Thin upper lip vermilion
OMIM:300558	ARHGEF6	9459	HP:0000194	Open mouth
OMIM:300558	ARHGEF6	9459	HP:0001419	X-linked recessive inheritance
OMIM:300558	ARHGEF6	9459	HP:0003828	Variable expressivity
OMIM:300558	ARHGEF6	9459	HP:0000750	Delayed speech and language development
OMIM:300558	ARHGEF6	9459	HP:0001250	Seizures
OMIM:300558	ARHGEF6	9459	HP:0000709	Psychosis
OMIM:300558	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300558	ARHGEF6	9459	HP:0003196	Short nose
OMIM:300558	ARHGEF6	9459	HP:0000739	Anxiety
OMIM:300558	ARHGEF6	9459	HP:0000463	Anteverted nares
OMIM:300558	ARHGEF6	9459	HP:0000713	Agitation
OMIM:300558	ARHGEF6	9459	HP:0000752	Hyperactivity
OMIM:300558	ARHGEF6	9459	HP:0000400	Macrotia
OMIM:300558	RPS6KA3	6197	HP:0002307	Drooling
OMIM:300558	RPS6KA3	6197	HP:0000218	High palate
OMIM:300558	RPS6KA3	6197	HP:0012368	Flat face
OMIM:300558	RPS6KA3	6197	HP:0002194	Delayed gross motor development
OMIM:300558	RPS6KA3	6197	HP:0000252	Microcephaly
OMIM:300558	RPS6KA3	6197	HP:0000718	Aggressive behavior
OMIM:300558	RPS6KA3	6197	HP:0000736	Short attention span
OMIM:300558	RPS6KA3	6197	HP:0000219	Thin upper lip vermilion
OMIM:300558	RPS6KA3	6197	HP:0000194	Open mouth
OMIM:300558	RPS6KA3	6197	HP:0001419	X-linked recessive inheritance
OMIM:300558	RPS6KA3	6197	HP:0003828	Variable expressivity
OMIM:300558	RPS6KA3	6197	HP:0000750	Delayed speech and language development
OMIM:300558	RPS6KA3	6197	HP:0001250	Seizures
OMIM:300558	RPS6KA3	6197	HP:0000709	Psychosis
OMIM:300558	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300558	RPS6KA3	6197	HP:0003196	Short nose
OMIM:300558	RPS6KA3	6197	HP:0000739	Anxiety
OMIM:300558	RPS6KA3	6197	HP:0000463	Anteverted nares
OMIM:300558	RPS6KA3	6197	HP:0000713	Agitation
OMIM:300558	RPS6KA3	6197	HP:0000752	Hyperactivity
OMIM:300558	RPS6KA3	6197	HP:0000400	Macrotia
OMIM:300558	IQSEC2	23096	HP:0002307	Drooling
OMIM:300558	IQSEC2	23096	HP:0000218	High palate
OMIM:300558	IQSEC2	23096	HP:0012368	Flat face
OMIM:300558	IQSEC2	23096	HP:0002194	Delayed gross motor development
OMIM:300558	IQSEC2	23096	HP:0000252	Microcephaly
OMIM:300558	IQSEC2	23096	HP:0000718	Aggressive behavior
OMIM:300558	IQSEC2	23096	HP:0000736	Short attention span
OMIM:300558	IQSEC2	23096	HP:0000219	Thin upper lip vermilion
OMIM:300558	IQSEC2	23096	HP:0000194	Open mouth
OMIM:300558	IQSEC2	23096	HP:0001419	X-linked recessive inheritance
OMIM:300558	IQSEC2	23096	HP:0003828	Variable expressivity
OMIM:300558	IQSEC2	23096	HP:0000750	Delayed speech and language development
OMIM:300558	IQSEC2	23096	HP:0001250	Seizures
OMIM:300558	IQSEC2	23096	HP:0000709	Psychosis
OMIM:300558	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300558	IQSEC2	23096	HP:0003196	Short nose
OMIM:300558	IQSEC2	23096	HP:0000739	Anxiety
OMIM:300558	IQSEC2	23096	HP:0000463	Anteverted nares
OMIM:300558	IQSEC2	23096	HP:0000713	Agitation
OMIM:300558	IQSEC2	23096	HP:0000752	Hyperactivity
OMIM:300558	IQSEC2	23096	HP:0000400	Macrotia
OMIM:300558	AGTR2	186	HP:0002307	Drooling
OMIM:300558	AGTR2	186	HP:0000218	High palate
OMIM:300558	AGTR2	186	HP:0012368	Flat face
OMIM:300558	AGTR2	186	HP:0002194	Delayed gross motor development
OMIM:300558	AGTR2	186	HP:0000252	Microcephaly
OMIM:300558	AGTR2	186	HP:0000718	Aggressive behavior
OMIM:300558	AGTR2	186	HP:0000736	Short attention span
OMIM:300558	AGTR2	186	HP:0000219	Thin upper lip vermilion
OMIM:300558	AGTR2	186	HP:0000194	Open mouth
OMIM:300558	AGTR2	186	HP:0001419	X-linked recessive inheritance
OMIM:300558	AGTR2	186	HP:0003828	Variable expressivity
OMIM:300558	AGTR2	186	HP:0000750	Delayed speech and language development
OMIM:300558	AGTR2	186	HP:0001250	Seizures
OMIM:300558	AGTR2	186	HP:0000709	Psychosis
OMIM:300558	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300558	AGTR2	186	HP:0003196	Short nose
OMIM:300558	AGTR2	186	HP:0000739	Anxiety
OMIM:300558	AGTR2	186	HP:0000463	Anteverted nares
OMIM:300558	AGTR2	186	HP:0000713	Agitation
OMIM:300558	AGTR2	186	HP:0000752	Hyperactivity
OMIM:300558	AGTR2	186	HP:0000400	Macrotia
OMIM:300558	ARX	170302	HP:0002307	Drooling
OMIM:300558	ARX	170302	HP:0000218	High palate
OMIM:300558	ARX	170302	HP:0012368	Flat face
OMIM:300558	ARX	170302	HP:0002194	Delayed gross motor development
OMIM:300558	ARX	170302	HP:0000252	Microcephaly
OMIM:300558	ARX	170302	HP:0000718	Aggressive behavior
OMIM:300558	ARX	170302	HP:0000736	Short attention span
OMIM:300558	ARX	170302	HP:0000219	Thin upper lip vermilion
OMIM:300558	ARX	170302	HP:0000194	Open mouth
OMIM:300558	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:300558	ARX	170302	HP:0003828	Variable expressivity
OMIM:300558	ARX	170302	HP:0000750	Delayed speech and language development
OMIM:300558	ARX	170302	HP:0001250	Seizures
OMIM:300558	ARX	170302	HP:0000709	Psychosis
OMIM:300558	ARX	170302	HP:0001249	Intellectual disability
OMIM:300558	ARX	170302	HP:0003196	Short nose
OMIM:300558	ARX	170302	HP:0000739	Anxiety
OMIM:300558	ARX	170302	HP:0000463	Anteverted nares
OMIM:300558	ARX	170302	HP:0000713	Agitation
OMIM:300558	ARX	170302	HP:0000752	Hyperactivity
OMIM:300558	ARX	170302	HP:0000400	Macrotia
OMIM:300558	ALG13	79868	HP:0002307	Drooling
OMIM:300558	ALG13	79868	HP:0000218	High palate
OMIM:300558	ALG13	79868	HP:0012368	Flat face
OMIM:300558	ALG13	79868	HP:0002194	Delayed gross motor development
OMIM:300558	ALG13	79868	HP:0000252	Microcephaly
OMIM:300558	ALG13	79868	HP:0000718	Aggressive behavior
OMIM:300558	ALG13	79868	HP:0000736	Short attention span
OMIM:300558	ALG13	79868	HP:0000219	Thin upper lip vermilion
OMIM:300558	ALG13	79868	HP:0000194	Open mouth
OMIM:300558	ALG13	79868	HP:0001419	X-linked recessive inheritance
OMIM:300558	ALG13	79868	HP:0003828	Variable expressivity
OMIM:300558	ALG13	79868	HP:0000750	Delayed speech and language development
OMIM:300558	ALG13	79868	HP:0001250	Seizures
OMIM:300558	ALG13	79868	HP:0000709	Psychosis
OMIM:300558	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300558	ALG13	79868	HP:0003196	Short nose
OMIM:300558	ALG13	79868	HP:0000739	Anxiety
OMIM:300558	ALG13	79868	HP:0000463	Anteverted nares
OMIM:300558	ALG13	79868	HP:0000713	Agitation
OMIM:300558	ALG13	79868	HP:0000752	Hyperactivity
OMIM:300558	ALG13	79868	HP:0000400	Macrotia
OMIM:300558	TSPAN7	7102	HP:0002307	Drooling
OMIM:300558	TSPAN7	7102	HP:0000218	High palate
OMIM:300558	TSPAN7	7102	HP:0012368	Flat face
OMIM:300558	TSPAN7	7102	HP:0002194	Delayed gross motor development
OMIM:300558	TSPAN7	7102	HP:0000252	Microcephaly
OMIM:300558	TSPAN7	7102	HP:0000718	Aggressive behavior
OMIM:300558	TSPAN7	7102	HP:0000736	Short attention span
OMIM:300558	TSPAN7	7102	HP:0000219	Thin upper lip vermilion
OMIM:300558	TSPAN7	7102	HP:0000194	Open mouth
OMIM:300558	TSPAN7	7102	HP:0001419	X-linked recessive inheritance
OMIM:300558	TSPAN7	7102	HP:0003828	Variable expressivity
OMIM:300558	TSPAN7	7102	HP:0000750	Delayed speech and language development
OMIM:300558	TSPAN7	7102	HP:0001250	Seizures
OMIM:300558	TSPAN7	7102	HP:0000709	Psychosis
OMIM:300558	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300558	TSPAN7	7102	HP:0003196	Short nose
OMIM:300558	TSPAN7	7102	HP:0000739	Anxiety
OMIM:300558	TSPAN7	7102	HP:0000463	Anteverted nares
OMIM:300558	TSPAN7	7102	HP:0000713	Agitation
OMIM:300558	TSPAN7	7102	HP:0000752	Hyperactivity
OMIM:300558	TSPAN7	7102	HP:0000400	Macrotia
OMIM:602114	MST1	4485	HP:0000112	Nephropathy
OMIM:602114	MST1	4485	HP:0000007	Autosomal recessive inheritance
OMIM:602114	MST1	4485	HP:0012622	Chronic kidney disease
OMIM:602114	MST1	4485	HP:0001969	Tubulointerstitial abnormality
OMIM:602114	MST1	4485	HP:0002910	Elevated hepatic transaminases
OMIM:602114	GPR35	2859	HP:0000112	Nephropathy
OMIM:602114	GPR35	2859	HP:0000007	Autosomal recessive inheritance
OMIM:602114	GPR35	2859	HP:0012622	Chronic kidney disease
OMIM:602114	GPR35	2859	HP:0001969	Tubulointerstitial abnormality
OMIM:602114	GPR35	2859	HP:0002910	Elevated hepatic transaminases
OMIM:602114	TCF4	6925	HP:0000112	Nephropathy
OMIM:602114	TCF4	6925	HP:0000007	Autosomal recessive inheritance
OMIM:602114	TCF4	6925	HP:0012622	Chronic kidney disease
OMIM:602114	TCF4	6925	HP:0001969	Tubulointerstitial abnormality
OMIM:602114	TCF4	6925	HP:0002910	Elevated hepatic transaminases
OMIM:616212	KATNB1	10300	HP:0009879	Cortical gyral simplification
OMIM:616212	KATNB1	10300	HP:0000340	Sloping forehead
OMIM:616212	KATNB1	10300	HP:0001270	Motor delay
OMIM:616212	KATNB1	10300	HP:0001263	Global developmental delay
OMIM:616212	KATNB1	10300	HP:0100543	Cognitive impairment
OMIM:616212	KATNB1	10300	HP:0001257	Spasticity
OMIM:616212	KATNB1	10300	HP:0002126	Polymicrogyria
OMIM:616212	KATNB1	10300	HP:0001347	Hyperreflexia
OMIM:616212	KATNB1	10300	HP:0002119	Ventriculomegaly
OMIM:616212	KATNB1	10300	HP:0001302	Pachygyria
OMIM:616212	KATNB1	10300	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616212	KATNB1	10300	HP:0001338	Partial agenesis of the corpus callosum
OMIM:616212	KATNB1	10300	HP:0001339	Lissencephaly
OMIM:616212	KATNB1	10300	HP:0002509	Limb hypertonia
OMIM:616212	KATNB1	10300	HP:0001250	Seizures
OMIM:616212	KATNB1	10300	HP:0000252	Microcephaly
OMIM:612527	TSR2	90121	HP:0000006	Autosomal dominant inheritance
OMIM:612527	TSR2	90121	HP:0001972	Macrocytic anemia
OMIM:612527	TSR2	90121	HP:0001896	Reticulocytopenia
OMIM:612527	RPS17	6218	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPS17	6218	HP:0001972	Macrocytic anemia
OMIM:612527	RPS17	6218	HP:0001896	Reticulocytopenia
OMIM:612527	RPL26	6154	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPL26	6154	HP:0001972	Macrocytic anemia
OMIM:612527	RPL26	6154	HP:0001896	Reticulocytopenia
OMIM:612527	RPL5	6125	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPL5	6125	HP:0001972	Macrocytic anemia
OMIM:612527	RPL5	6125	HP:0001896	Reticulocytopenia
OMIM:612527	RPS19	6223	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPS19	6223	HP:0001972	Macrocytic anemia
OMIM:612527	RPS19	6223	HP:0001896	Reticulocytopenia
OMIM:612527	RPS24	6229	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPS24	6229	HP:0001972	Macrocytic anemia
OMIM:612527	RPS24	6229	HP:0001896	Reticulocytopenia
OMIM:612527	RPL35A	6165	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPL35A	6165	HP:0001972	Macrocytic anemia
OMIM:612527	RPL35A	6165	HP:0001896	Reticulocytopenia
OMIM:612527	RPL11	6135	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPL11	6135	HP:0001972	Macrocytic anemia
OMIM:612527	RPL11	6135	HP:0001896	Reticulocytopenia
OMIM:612527	RPS26	6231	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPS26	6231	HP:0001972	Macrocytic anemia
OMIM:612527	RPS26	6231	HP:0001896	Reticulocytopenia
OMIM:612527	RPS7	6201	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPS7	6201	HP:0001972	Macrocytic anemia
OMIM:612527	RPS7	6201	HP:0001896	Reticulocytopenia
OMIM:612527	RPL15	6138	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPL15	6138	HP:0001972	Macrocytic anemia
OMIM:612527	RPL15	6138	HP:0001896	Reticulocytopenia
OMIM:612527	RPS28	6234	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPS28	6234	HP:0001972	Macrocytic anemia
OMIM:612527	RPS28	6234	HP:0001896	Reticulocytopenia
OMIM:612527	RPS29	6235	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPS29	6235	HP:0001972	Macrocytic anemia
OMIM:612527	RPS29	6235	HP:0001896	Reticulocytopenia
OMIM:612527	RPS10	6204	HP:0000006	Autosomal dominant inheritance
OMIM:612527	RPS10	6204	HP:0001972	Macrocytic anemia
OMIM:612527	RPS10	6204	HP:0001896	Reticulocytopenia
OMIM:612527	GATA1	2623	HP:0000006	Autosomal dominant inheritance
OMIM:612527	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:612527	GATA1	2623	HP:0001896	Reticulocytopenia
OMIM:616570	ERCC1	2067	HP:0000252	Microcephaly
OMIM:616570	ERCC1	2067	HP:0001838	Rocker bottom foot
OMIM:616570	ERCC1	2067	HP:0000175	Cleft palate
OMIM:616570	ERCC1	2067	HP:0001511	Intrauterine growth retardation
OMIM:616570	ERCC1	2067	HP:0000347	Micrognathia
OMIM:616570	ERCC1	2067	HP:0000969	Edema
OMIM:616570	ERCC1	2067	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616570	ERCC1	2067	HP:0000992	Cutaneous photosensitivity
OMIM:616570	ERCC1	2067	HP:0001558	Decreased fetal movement
OMIM:616570	ERCC1	2067	HP:0001263	Global developmental delay
OMIM:616570	ERCC1	2067	HP:0001762	Talipes equinovarus
OMIM:616570	ERCC1	2067	HP:0000369	Low-set ears
OMIM:616570	ERCC1	2067	HP:0000568	Microphthalmia
OMIM:616570	ERCC2	2068	HP:0000252	Microcephaly
OMIM:616570	ERCC2	2068	HP:0001838	Rocker bottom foot
OMIM:616570	ERCC2	2068	HP:0000175	Cleft palate
OMIM:616570	ERCC2	2068	HP:0001511	Intrauterine growth retardation
OMIM:616570	ERCC2	2068	HP:0000347	Micrognathia
OMIM:616570	ERCC2	2068	HP:0000969	Edema
OMIM:616570	ERCC2	2068	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616570	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
OMIM:616570	ERCC2	2068	HP:0001558	Decreased fetal movement
OMIM:616570	ERCC2	2068	HP:0001263	Global developmental delay
OMIM:616570	ERCC2	2068	HP:0001762	Talipes equinovarus
OMIM:616570	ERCC2	2068	HP:0000369	Low-set ears
OMIM:616570	ERCC2	2068	HP:0000568	Microphthalmia
OMIM:616570	ERCC5	2073	HP:0000252	Microcephaly
OMIM:616570	ERCC5	2073	HP:0001838	Rocker bottom foot
OMIM:616570	ERCC5	2073	HP:0000175	Cleft palate
OMIM:616570	ERCC5	2073	HP:0001511	Intrauterine growth retardation
OMIM:616570	ERCC5	2073	HP:0000347	Micrognathia
OMIM:616570	ERCC5	2073	HP:0000969	Edema
OMIM:616570	ERCC5	2073	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616570	ERCC5	2073	HP:0000992	Cutaneous photosensitivity
OMIM:616570	ERCC5	2073	HP:0001558	Decreased fetal movement
OMIM:616570	ERCC5	2073	HP:0001263	Global developmental delay
OMIM:616570	ERCC5	2073	HP:0001762	Talipes equinovarus
OMIM:616570	ERCC5	2073	HP:0000369	Low-set ears
OMIM:616570	ERCC5	2073	HP:0000568	Microphthalmia
OMIM:616570	ERCC6	2074	HP:0000252	Microcephaly
OMIM:616570	ERCC6	2074	HP:0001838	Rocker bottom foot
OMIM:616570	ERCC6	2074	HP:0000175	Cleft palate
OMIM:616570	ERCC6	2074	HP:0001511	Intrauterine growth retardation
OMIM:616570	ERCC6	2074	HP:0000347	Micrognathia
OMIM:616570	ERCC6	2074	HP:0000969	Edema
OMIM:616570	ERCC6	2074	HP:0002804	Arthrogryposis multiplex congenita
OMIM:616570	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:616570	ERCC6	2074	HP:0001558	Decreased fetal movement
OMIM:616570	ERCC6	2074	HP:0001263	Global developmental delay
OMIM:616570	ERCC6	2074	HP:0001762	Talipes equinovarus
OMIM:616570	ERCC6	2074	HP:0000369	Low-set ears
OMIM:616570	ERCC6	2074	HP:0000568	Microphthalmia
OMIM:302380	IMPAD1	54928	HP:0001388	Joint laxity
OMIM:302380	IMPAD1	54928	HP:0000023	Inguinal hernia
OMIM:302380	IMPAD1	54928	HP:0000175	Cleft palate
OMIM:302380	IMPAD1	54928	HP:0000768	Pectus carinatum
OMIM:302380	IMPAD1	54928	HP:0000204	Cleft upper lip
OMIM:302380	IMPAD1	54928	HP:0001419	X-linked recessive inheritance
OMIM:302380	IMPAD1	54928	HP:0004209	Clinodactyly of the 5th finger
OMIM:302380	IMPAD1	54928	HP:0000767	Pectus excavatum
OMIM:302380	IMPAD1	54928	HP:0000028	Cryptorchidism
OMIM:302380	IMPAD1	54928	HP:0001263	Global developmental delay
OMIM:302380	IMPAD1	54928	HP:0002722	Recurrent abscess formation
OMIM:302380	IMPAD1	54928	HP:0000772	Abnormality of the ribs
OMIM:302380	IMPAD1	54928	HP:0000369	Low-set ears
OMIM:302380	IMPAD1	54928	HP:0001680	Coarctation of aorta
OMIM:302380	IMPAD1	54928	HP:0001250	Seizures
OMIM:302380	IMPAD1	54928	HP:0000377	Abnormality of the pinna
OMIM:302380	IMPAD1	54928	HP:0001373	Joint dislocation
OMIM:302380	IMPAD1	54928	HP:0000218	High palate
OMIM:302380	IMPAD1	54928	HP:0009473	Joint contracture of the hand
OMIM:302380	IMPAD1	54928	HP:0003745	Sporadic
OMIM:302380	IMPAD1	54928	HP:0001651	Dextrocardia
OMIM:302380	IMPAD1	54928	HP:0001511	Intrauterine growth retardation
OMIM:302380	IMPAD1	54928	HP:0002623	Overriding aorta
OMIM:302380	IMPAD1	54928	HP:0012385	Camptodactyly
OMIM:302380	IMPAD1	54928	HP:0010628	Facial palsy
OMIM:302380	IMPAD1	54928	HP:0001629	Ventricular septal defect
OMIM:302380	IMPAD1	54928	HP:0000162	Glossoptosis
OMIM:302380	IMPAD1	54928	HP:0008897	Postnatal growth retardation
OMIM:302380	IMPAD1	54928	HP:0000262	Turricephaly
OMIM:302380	IMPAD1	54928	HP:0000470	Short neck
OMIM:302380	IMPAD1	54928	HP:0000347	Micrognathia
OMIM:302380	IMPAD1	54928	HP:0001537	Umbilical hernia
OMIM:302380	IMPAD1	54928	HP:0001762	Talipes equinovarus
OMIM:302380	IMPAD1	54928	HP:0000476	Cystic hygroma
OMIM:302380	TGDS	23483	HP:0001388	Joint laxity
OMIM:302380	TGDS	23483	HP:0000023	Inguinal hernia
OMIM:302380	TGDS	23483	HP:0000175	Cleft palate
OMIM:302380	TGDS	23483	HP:0000768	Pectus carinatum
OMIM:302380	TGDS	23483	HP:0000204	Cleft upper lip
OMIM:302380	TGDS	23483	HP:0001419	X-linked recessive inheritance
OMIM:302380	TGDS	23483	HP:0004209	Clinodactyly of the 5th finger
OMIM:302380	TGDS	23483	HP:0000767	Pectus excavatum
OMIM:302380	TGDS	23483	HP:0000028	Cryptorchidism
OMIM:302380	TGDS	23483	HP:0001263	Global developmental delay
OMIM:302380	TGDS	23483	HP:0002722	Recurrent abscess formation
OMIM:302380	TGDS	23483	HP:0000772	Abnormality of the ribs
OMIM:302380	TGDS	23483	HP:0000369	Low-set ears
OMIM:302380	TGDS	23483	HP:0001680	Coarctation of aorta
OMIM:302380	TGDS	23483	HP:0001250	Seizures
OMIM:302380	TGDS	23483	HP:0000377	Abnormality of the pinna
OMIM:302380	TGDS	23483	HP:0001373	Joint dislocation
OMIM:302380	TGDS	23483	HP:0000218	High palate
OMIM:302380	TGDS	23483	HP:0009473	Joint contracture of the hand
OMIM:302380	TGDS	23483	HP:0003745	Sporadic
OMIM:302380	TGDS	23483	HP:0001651	Dextrocardia
OMIM:302380	TGDS	23483	HP:0001511	Intrauterine growth retardation
OMIM:302380	TGDS	23483	HP:0002623	Overriding aorta
OMIM:302380	TGDS	23483	HP:0012385	Camptodactyly
OMIM:302380	TGDS	23483	HP:0010628	Facial palsy
OMIM:302380	TGDS	23483	HP:0001629	Ventricular septal defect
OMIM:302380	TGDS	23483	HP:0000162	Glossoptosis
OMIM:302380	TGDS	23483	HP:0008897	Postnatal growth retardation
OMIM:302380	TGDS	23483	HP:0000262	Turricephaly
OMIM:302380	TGDS	23483	HP:0000470	Short neck
OMIM:302380	TGDS	23483	HP:0000347	Micrognathia
OMIM:302380	TGDS	23483	HP:0001537	Umbilical hernia
OMIM:302380	TGDS	23483	HP:0001762	Talipes equinovarus
OMIM:302380	TGDS	23483	HP:0000476	Cystic hygroma
ORPHANET:2616	CCDC8	83987	HP:0000325	Triangular face
ORPHANET:2616	CCDC8	83987	HP:0003100	Slender long bone
ORPHANET:2616	CCDC8	83987	HP:0100659	Abnormality of the cerebral vasculature
ORPHANET:2616	CCDC8	83987	HP:0001511	Intrauterine growth retardation
ORPHANET:2616	CCDC8	83987	HP:0002750	Delayed skeletal maturation
ORPHANET:2616	CCDC8	83987	HP:0002997	Abnormality of the ulna
ORPHANET:2616	CCDC8	83987	HP:0002007	Frontal bossing
ORPHANET:2616	CCDC8	83987	HP:0002650	Scoliosis
ORPHANET:2616	CCDC8	83987	HP:0009811	Abnormality of the elbow
ORPHANET:2616	CCDC8	83987	HP:0002808	Kyphosis
ORPHANET:2616	CCDC8	83987	HP:0000343	Long philtrum
ORPHANET:2616	CCDC8	83987	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:2616	CCDC8	83987	HP:0000377	Abnormality of the pinna
ORPHANET:2616	CCDC8	83987	HP:0000307	Pointed chin
ORPHANET:2616	CCDC8	83987	HP:0000470	Short neck
ORPHANET:2616	CCDC8	83987	HP:0004322	Short stature
ORPHANET:2616	CCDC8	83987	HP:0000337	Broad forehead
ORPHANET:2616	CCDC8	83987	HP:0001838	Rocker bottom foot
ORPHANET:2616	CCDC8	83987	HP:0002983	Micromelia
ORPHANET:2616	CCDC8	83987	HP:0000574	Thick eyebrow
ORPHANET:2616	CCDC8	83987	HP:0000772	Abnormality of the ribs
ORPHANET:2616	CCDC8	83987	HP:0100625	Enlarged thorax
ORPHANET:2616	CCDC8	83987	HP:0000944	Abnormality of the metaphyses
ORPHANET:2616	CCDC8	83987	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2616	CCDC8	83987	HP:0000268	Dolichocephaly
ORPHANET:2616	CCDC8	83987	HP:0003272	Abnormality of the hip bone
ORPHANET:2616	CCDC8	83987	HP:0000682	Abnormality of dental enamel
ORPHANET:2616	CCDC8	83987	HP:0003307	Hyperlordosis
ORPHANET:2616	CCDC8	83987	HP:0000272	Malar flattening
ORPHANET:2616	CCDC8	83987	HP:0000463	Anteverted nares
ORPHANET:2616	CCDC8	83987	HP:0000144	Decreased fertility
ORPHANET:2616	CCDC8	83987	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2616	CCDC8	83987	HP:0000912	Sprengel anomaly
ORPHANET:2616	CCDC8	83987	HP:0000684	Delayed eruption of teeth
ORPHANET:2616	CCDC8	83987	HP:0010306	Short thorax
ORPHANET:2616	CCDC8	83987	HP:0001382	Joint hypermobility
ORPHANET:2616	CCDC8	83987	HP:0000232	Everted lower lip vermilion
ORPHANET:2616	OBSL1	23363	HP:0000325	Triangular face
ORPHANET:2616	OBSL1	23363	HP:0003100	Slender long bone
ORPHANET:2616	OBSL1	23363	HP:0100659	Abnormality of the cerebral vasculature
ORPHANET:2616	OBSL1	23363	HP:0001511	Intrauterine growth retardation
ORPHANET:2616	OBSL1	23363	HP:0002750	Delayed skeletal maturation
ORPHANET:2616	OBSL1	23363	HP:0002997	Abnormality of the ulna
ORPHANET:2616	OBSL1	23363	HP:0002007	Frontal bossing
ORPHANET:2616	OBSL1	23363	HP:0002650	Scoliosis
ORPHANET:2616	OBSL1	23363	HP:0009811	Abnormality of the elbow
ORPHANET:2616	OBSL1	23363	HP:0002808	Kyphosis
ORPHANET:2616	OBSL1	23363	HP:0000343	Long philtrum
ORPHANET:2616	OBSL1	23363	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:2616	OBSL1	23363	HP:0000377	Abnormality of the pinna
ORPHANET:2616	OBSL1	23363	HP:0000307	Pointed chin
ORPHANET:2616	OBSL1	23363	HP:0000470	Short neck
ORPHANET:2616	OBSL1	23363	HP:0004322	Short stature
ORPHANET:2616	OBSL1	23363	HP:0000337	Broad forehead
ORPHANET:2616	OBSL1	23363	HP:0001838	Rocker bottom foot
ORPHANET:2616	OBSL1	23363	HP:0002983	Micromelia
ORPHANET:2616	OBSL1	23363	HP:0000574	Thick eyebrow
ORPHANET:2616	OBSL1	23363	HP:0000772	Abnormality of the ribs
ORPHANET:2616	OBSL1	23363	HP:0100625	Enlarged thorax
ORPHANET:2616	OBSL1	23363	HP:0000944	Abnormality of the metaphyses
ORPHANET:2616	OBSL1	23363	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2616	OBSL1	23363	HP:0000268	Dolichocephaly
ORPHANET:2616	OBSL1	23363	HP:0003272	Abnormality of the hip bone
ORPHANET:2616	OBSL1	23363	HP:0000682	Abnormality of dental enamel
ORPHANET:2616	OBSL1	23363	HP:0003307	Hyperlordosis
ORPHANET:2616	OBSL1	23363	HP:0000272	Malar flattening
ORPHANET:2616	OBSL1	23363	HP:0000463	Anteverted nares
ORPHANET:2616	OBSL1	23363	HP:0000144	Decreased fertility
ORPHANET:2616	OBSL1	23363	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2616	OBSL1	23363	HP:0000912	Sprengel anomaly
ORPHANET:2616	OBSL1	23363	HP:0000684	Delayed eruption of teeth
ORPHANET:2616	OBSL1	23363	HP:0010306	Short thorax
ORPHANET:2616	OBSL1	23363	HP:0001382	Joint hypermobility
ORPHANET:2616	OBSL1	23363	HP:0000232	Everted lower lip vermilion
ORPHANET:2616	CUL7	9820	HP:0000325	Triangular face
ORPHANET:2616	CUL7	9820	HP:0003100	Slender long bone
ORPHANET:2616	CUL7	9820	HP:0100659	Abnormality of the cerebral vasculature
ORPHANET:2616	CUL7	9820	HP:0001511	Intrauterine growth retardation
ORPHANET:2616	CUL7	9820	HP:0002750	Delayed skeletal maturation
ORPHANET:2616	CUL7	9820	HP:0002997	Abnormality of the ulna
ORPHANET:2616	CUL7	9820	HP:0002007	Frontal bossing
ORPHANET:2616	CUL7	9820	HP:0002650	Scoliosis
ORPHANET:2616	CUL7	9820	HP:0009811	Abnormality of the elbow
ORPHANET:2616	CUL7	9820	HP:0002808	Kyphosis
ORPHANET:2616	CUL7	9820	HP:0000343	Long philtrum
ORPHANET:2616	CUL7	9820	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:2616	CUL7	9820	HP:0000377	Abnormality of the pinna
ORPHANET:2616	CUL7	9820	HP:0000307	Pointed chin
ORPHANET:2616	CUL7	9820	HP:0000470	Short neck
ORPHANET:2616	CUL7	9820	HP:0004322	Short stature
ORPHANET:2616	CUL7	9820	HP:0000337	Broad forehead
ORPHANET:2616	CUL7	9820	HP:0001838	Rocker bottom foot
ORPHANET:2616	CUL7	9820	HP:0002983	Micromelia
ORPHANET:2616	CUL7	9820	HP:0000574	Thick eyebrow
ORPHANET:2616	CUL7	9820	HP:0000772	Abnormality of the ribs
ORPHANET:2616	CUL7	9820	HP:0100625	Enlarged thorax
ORPHANET:2616	CUL7	9820	HP:0000944	Abnormality of the metaphyses
ORPHANET:2616	CUL7	9820	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2616	CUL7	9820	HP:0000268	Dolichocephaly
ORPHANET:2616	CUL7	9820	HP:0003272	Abnormality of the hip bone
ORPHANET:2616	CUL7	9820	HP:0000682	Abnormality of dental enamel
ORPHANET:2616	CUL7	9820	HP:0003307	Hyperlordosis
ORPHANET:2616	CUL7	9820	HP:0000272	Malar flattening
ORPHANET:2616	CUL7	9820	HP:0000463	Anteverted nares
ORPHANET:2616	CUL7	9820	HP:0000144	Decreased fertility
ORPHANET:2616	CUL7	9820	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2616	CUL7	9820	HP:0000912	Sprengel anomaly
ORPHANET:2616	CUL7	9820	HP:0000684	Delayed eruption of teeth
ORPHANET:2616	CUL7	9820	HP:0010306	Short thorax
ORPHANET:2616	CUL7	9820	HP:0001382	Joint hypermobility
ORPHANET:2616	CUL7	9820	HP:0000232	Everted lower lip vermilion
OMIM:614399	MEGF10	84466	HP:0002091	Restrictive lung disease
OMIM:614399	MEGF10	84466	HP:0001250	Seizures
OMIM:614399	MEGF10	84466	HP:0001319	Neonatal hypotonia
OMIM:614399	MEGF10	84466	HP:0001270	Motor delay
OMIM:614399	MEGF10	84466	HP:0001762	Talipes equinovarus
OMIM:614399	MEGF10	84466	HP:0000218	High palate
OMIM:614399	MEGF10	84466	HP:0003828	Variable expressivity
OMIM:614399	MEGF10	84466	HP:0002650	Scoliosis
OMIM:614399	MEGF10	84466	HP:0003577	Congenital onset
OMIM:614399	MEGF10	84466	HP:0001284	Areflexia
OMIM:614399	MEGF10	84466	HP:0000767	Pectus excavatum
OMIM:614399	MEGF10	84466	HP:0002878	Respiratory failure
OMIM:614399	MEGF10	84466	HP:0001265	Hyporeflexia
OMIM:614399	MEGF10	84466	HP:0001558	Decreased fetal movement
OMIM:614399	MEGF10	84466	HP:0002421	Poor head control
OMIM:614399	MEGF10	84466	HP:0010628	Facial palsy
OMIM:614399	MEGF10	84466	HP:0002015	Dysphagia
OMIM:614399	MEGF10	84466	HP:0000007	Autosomal recessive inheritance
OMIM:614399	MEGF10	84466	HP:0001508	Failure to thrive
OMIM:614399	MEGF10	84466	HP:0001611	Nasal speech
OMIM:614399	MEGF10	84466	HP:0000175	Cleft palate
OMIM:614399	MEGF10	84466	HP:0100490	Camptodactyly of finger
OMIM:614399	IGHMBP2	3508	HP:0002091	Restrictive lung disease
OMIM:614399	IGHMBP2	3508	HP:0001250	Seizures
OMIM:614399	IGHMBP2	3508	HP:0001319	Neonatal hypotonia
OMIM:614399	IGHMBP2	3508	HP:0001270	Motor delay
OMIM:614399	IGHMBP2	3508	HP:0001762	Talipes equinovarus
OMIM:614399	IGHMBP2	3508	HP:0000218	High palate
OMIM:614399	IGHMBP2	3508	HP:0003828	Variable expressivity
OMIM:614399	IGHMBP2	3508	HP:0002650	Scoliosis
OMIM:614399	IGHMBP2	3508	HP:0003577	Congenital onset
OMIM:614399	IGHMBP2	3508	HP:0001284	Areflexia
OMIM:614399	IGHMBP2	3508	HP:0000767	Pectus excavatum
OMIM:614399	IGHMBP2	3508	HP:0002878	Respiratory failure
OMIM:614399	IGHMBP2	3508	HP:0001265	Hyporeflexia
OMIM:614399	IGHMBP2	3508	HP:0001558	Decreased fetal movement
OMIM:614399	IGHMBP2	3508	HP:0002421	Poor head control
OMIM:614399	IGHMBP2	3508	HP:0010628	Facial palsy
OMIM:614399	IGHMBP2	3508	HP:0002015	Dysphagia
OMIM:614399	IGHMBP2	3508	HP:0000007	Autosomal recessive inheritance
OMIM:614399	IGHMBP2	3508	HP:0001508	Failure to thrive
OMIM:614399	IGHMBP2	3508	HP:0001611	Nasal speech
OMIM:614399	IGHMBP2	3508	HP:0000175	Cleft palate
OMIM:614399	IGHMBP2	3508	HP:0100490	Camptodactyly of finger
OMIM:178500	FAM13A	10144	HP:0010702	Increased antibody level in blood
OMIM:178500	FAM13A	10144	HP:0002090	Pneumonia
OMIM:178500	FAM13A	10144	HP:0001394	Cirrhosis
OMIM:178500	FAM13A	10144	HP:0002206	Pulmonary fibrosis
OMIM:178500	FAM13A	10144	HP:0000006	Autosomal dominant inheritance
OMIM:178500	TERC	7012	HP:0010702	Increased antibody level in blood
OMIM:178500	TERC	7012	HP:0002090	Pneumonia
OMIM:178500	TERC	7012	HP:0001394	Cirrhosis
OMIM:178500	TERC	7012	HP:0002206	Pulmonary fibrosis
OMIM:178500	TERC	7012	HP:0000006	Autosomal dominant inheritance
OMIM:178500	RTEL1	51750	HP:0010702	Increased antibody level in blood
OMIM:178500	RTEL1	51750	HP:0002090	Pneumonia
OMIM:178500	RTEL1	51750	HP:0001394	Cirrhosis
OMIM:178500	RTEL1	51750	HP:0002206	Pulmonary fibrosis
OMIM:178500	RTEL1	51750	HP:0000006	Autosomal dominant inheritance
OMIM:178500	TERT	7015	HP:0010702	Increased antibody level in blood
OMIM:178500	TERT	7015	HP:0002090	Pneumonia
OMIM:178500	TERT	7015	HP:0001394	Cirrhosis
OMIM:178500	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:178500	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:178500	SFTPC	6440	HP:0010702	Increased antibody level in blood
OMIM:178500	SFTPC	6440	HP:0002090	Pneumonia
OMIM:178500	SFTPC	6440	HP:0001394	Cirrhosis
OMIM:178500	SFTPC	6440	HP:0002206	Pulmonary fibrosis
OMIM:178500	SFTPC	6440	HP:0000006	Autosomal dominant inheritance
OMIM:178500	DSP	1832	HP:0010702	Increased antibody level in blood
OMIM:178500	DSP	1832	HP:0002090	Pneumonia
OMIM:178500	DSP	1832	HP:0001394	Cirrhosis
OMIM:178500	DSP	1832	HP:0002206	Pulmonary fibrosis
OMIM:178500	DSP	1832	HP:0000006	Autosomal dominant inheritance
OMIM:178500	SFTPA1	653509	HP:0010702	Increased antibody level in blood
OMIM:178500	SFTPA1	653509	HP:0002090	Pneumonia
OMIM:178500	SFTPA1	653509	HP:0001394	Cirrhosis
OMIM:178500	SFTPA1	653509	HP:0002206	Pulmonary fibrosis
OMIM:178500	SFTPA1	653509	HP:0000006	Autosomal dominant inheritance
OMIM:178500	PARN	5073	HP:0010702	Increased antibody level in blood
OMIM:178500	PARN	5073	HP:0002090	Pneumonia
OMIM:178500	PARN	5073	HP:0001394	Cirrhosis
OMIM:178500	PARN	5073	HP:0002206	Pulmonary fibrosis
OMIM:178500	PARN	5073	HP:0000006	Autosomal dominant inheritance
OMIM:178500	MUC5B	727897	HP:0010702	Increased antibody level in blood
OMIM:178500	MUC5B	727897	HP:0002090	Pneumonia
OMIM:178500	MUC5B	727897	HP:0001394	Cirrhosis
OMIM:178500	MUC5B	727897	HP:0002206	Pulmonary fibrosis
OMIM:178500	MUC5B	727897	HP:0000006	Autosomal dominant inheritance
OMIM:178500	ATP11A	23250	HP:0010702	Increased antibody level in blood
OMIM:178500	ATP11A	23250	HP:0002090	Pneumonia
OMIM:178500	ATP11A	23250	HP:0001394	Cirrhosis
OMIM:178500	ATP11A	23250	HP:0002206	Pulmonary fibrosis
OMIM:178500	ATP11A	23250	HP:0000006	Autosomal dominant inheritance
OMIM:178500	OBFC1	79991	HP:0010702	Increased antibody level in blood
OMIM:178500	OBFC1	79991	HP:0002090	Pneumonia
OMIM:178500	OBFC1	79991	HP:0001394	Cirrhosis
OMIM:178500	OBFC1	79991	HP:0002206	Pulmonary fibrosis
OMIM:178500	OBFC1	79991	HP:0000006	Autosomal dominant inheritance
OMIM:178500	SFTPA2	729238	HP:0010702	Increased antibody level in blood
OMIM:178500	SFTPA2	729238	HP:0002090	Pneumonia
OMIM:178500	SFTPA2	729238	HP:0001394	Cirrhosis
OMIM:178500	SFTPA2	729238	HP:0002206	Pulmonary fibrosis
OMIM:178500	SFTPA2	729238	HP:0000006	Autosomal dominant inheritance
OMIM:178500	DPP9	91039	HP:0010702	Increased antibody level in blood
OMIM:178500	DPP9	91039	HP:0002090	Pneumonia
OMIM:178500	DPP9	91039	HP:0001394	Cirrhosis
OMIM:178500	DPP9	91039	HP:0002206	Pulmonary fibrosis
OMIM:178500	DPP9	91039	HP:0000006	Autosomal dominant inheritance
OMIM:230400	GALT	2592	HP:0001608	Abnormality of the voice
OMIM:230400	GALT	2592	HP:0100543	Cognitive impairment
OMIM:230400	GALT	2592	HP:0001508	Failure to thrive
OMIM:230400	GALT	2592	HP:0002167	Neurological speech impairment
OMIM:230400	GALT	2592	HP:0000518	Cataract
OMIM:230400	GALT	2592	HP:0002013	Vomiting
OMIM:230400	GALT	2592	HP:0001249	Intellectual disability
OMIM:230400	GALT	2592	HP:0004372	Reduced consciousness/confusion
OMIM:230400	GALT	2592	HP:0001394	Cirrhosis
OMIM:230400	GALT	2592	HP:0002240	Hepatomegaly
OMIM:230400	GALT	2592	HP:0000815	Hypergonadotropic hypogonadism
OMIM:230400	GALT	2592	HP:0001878	Hemolytic anemia
OMIM:230400	GALT	2592	HP:0100806	Sepsis
OMIM:230400	GALT	2592	HP:0002014	Diarrhea
OMIM:230400	GALT	2592	HP:0001410	Decreased liver function
OMIM:230400	GALT	2592	HP:0000007	Autosomal recessive inheritance
OMIM:230400	GALT	2592	HP:0001942	Metabolic acidosis
OMIM:230400	GALT	2592	HP:0003355	Aminoaciduria
OMIM:230400	GALT	2592	HP:0000144	Decreased fertility
OMIM:230400	GALT	2592	HP:0001824	Weight loss
OMIM:230400	GALT	2592	HP:0001943	Hypoglycemia
OMIM:230400	GALT	2592	HP:0001337	Tremor
OMIM:230400	GALT	2592	HP:0004349	Reduced bone mineral density
OMIM:230400	GALT	2592	HP:0012023	Galactosuria
OMIM:230400	GALT	2592	HP:0002311	Incoordination
OMIM:230400	GALT	2592	HP:0008872	Feeding difficulties in infancy
OMIM:601287	SGCD	6444	HP:0003560	Muscular dystrophy
OMIM:601287	SGCD	6444	HP:0003701	Proximal muscle weakness
OMIM:601287	SGCD	6444	HP:0000007	Autosomal recessive inheritance
OMIM:601287	SGCD	6444	HP:0007126	Proximal amyotrophy
OMIM:601287	SGCD	6444	HP:0002355	Difficulty walking
OMIM:601287	SGCD	6444	HP:0003691	Scapular winging
OMIM:278750	POLH	5429	HP:0000992	Cutaneous photosensitivity
OMIM:278750	POLH	5429	HP:0000958	Dry skin
OMIM:278750	POLH	5429	HP:0012056	Cutaneous melanoma
OMIM:278750	POLH	5429	HP:0200043	Verrucae
OMIM:278750	POLH	5429	HP:0002860	Squamous cell carcinoma
OMIM:278750	POLH	5429	HP:0001480	Freckling
OMIM:278750	POLH	5429	HP:0100585	Telangiectasia of the skin
OMIM:278750	POLH	5429	HP:0000007	Autosomal recessive inheritance
OMIM:278750	POLH	5429	HP:0004334	Dermal atrophy
OMIM:278750	POLH	5429	HP:0000613	Photophobia
OMIM:278750	POLH	5429	HP:0000491	Keratitis
OMIM:278750	POLH	5429	HP:0000509	Conjunctivitis
OMIM:300624	FMR1	2332	HP:0001250	Seizures
OMIM:300624	FMR1	2332	HP:0000275	Narrow face
OMIM:300624	FMR1	2332	HP:0002650	Scoliosis
OMIM:300624	FMR1	2332	HP:0001423	X-linked dominant inheritance
OMIM:300624	FMR1	2332	HP:0001634	Mitral valve prolapse
OMIM:300624	FMR1	2332	HP:0001763	Pes planus
OMIM:300624	FMR1	2332	HP:0000246	Sinusitis
OMIM:300624	FMR1	2332	HP:0003829	Incomplete penetrance
OMIM:300624	FMR1	2332	HP:0000256	Macrocephaly
OMIM:300624	FMR1	2332	HP:0000767	Pectus excavatum
OMIM:300624	FMR1	2332	HP:0100716	Self-injurious behavior
OMIM:300624	FMR1	2332	HP:0000717	Autism
OMIM:300624	FMR1	2332	HP:0002007	Frontal bossing
OMIM:300624	FMR1	2332	HP:0000280	Coarse facial features
OMIM:300624	FMR1	2332	HP:0100543	Cognitive impairment
OMIM:300624	FMR1	2332	HP:0001633	Abnormality of the mitral valve
OMIM:300624	FMR1	2332	HP:0000400	Macrotia
OMIM:300624	FMR1	2332	HP:0000276	Long face
OMIM:300624	FMR1	2332	HP:0001252	Muscular hypotonia
OMIM:300624	FMR1	2332	HP:0000486	Strabismus
OMIM:300624	FMR1	2332	HP:0005111	Dilatation of the ascending aorta
OMIM:300624	FMR1	2332	HP:0002167	Neurological speech impairment
OMIM:300624	FMR1	2332	HP:0002342	Intellectual disability, moderate
OMIM:300624	FMR1	2332	HP:0000377	Abnormality of the pinna
OMIM:300624	FMR1	2332	HP:0007165	Periventricular gray matter heterotopia
OMIM:300624	FMR1	2332	HP:0000303	Mandibular prognathia
OMIM:300624	FMR1	2332	HP:0000388	Otitis media
OMIM:300624	FMR1	2332	HP:0002120	Cerebral cortical atrophy
OMIM:300624	FMR1	2332	HP:0007018	Attention deficit hyperactivity disorder
OMIM:300624	FMR1	2332	HP:0001388	Joint laxity
OMIM:300624	FMR1	2332	HP:0001382	Joint hypermobility
OMIM:300624	FMR1	2332	HP:0000752	Hyperactivity
OMIM:300624	FMR1	2332	HP:0000053	Macroorchidism
OMIM:182250	DDX58	23586	HP:0004325	Decreased body weight
OMIM:182250	DDX58	23586	HP:0002515	Waddling gait
OMIM:182250	DDX58	23586	HP:0003182	Shallow acetabular fossae
OMIM:182250	DDX58	23586	HP:0002673	Coxa valga
OMIM:182250	DDX58	23586	HP:0001252	Muscular hypotonia
OMIM:182250	DDX58	23586	HP:0001324	Muscle weakness
OMIM:182250	DDX58	23586	HP:0004322	Short stature
OMIM:182250	DDX58	23586	HP:0000545	Myopia
OMIM:182250	DDX58	23586	HP:0001682	Subaortic stenosis
OMIM:182250	DDX58	23586	HP:0002827	Hip dislocation
OMIM:182250	DDX58	23586	HP:0002857	Genu valgum
OMIM:182250	DDX58	23586	HP:0000670	Carious teeth
OMIM:182250	DDX58	23586	HP:0001640	Cardiomegaly
OMIM:182250	DDX58	23586	HP:0000006	Autosomal dominant inheritance
OMIM:182250	DDX58	23586	HP:0009890	High anterior hairline
OMIM:182250	DDX58	23586	HP:0030043	Hip Subluxation
OMIM:182250	DDX58	23586	HP:0001806	Onycholysis
OMIM:182250	DDX58	23586	HP:0001761	Pes cavus
OMIM:182250	DDX58	23586	HP:0001650	Aortic valve stenosis
OMIM:182250	DDX58	23586	HP:0000939	Osteoporosis
OMIM:182250	DDX58	23586	HP:0001635	Congestive heart failure
OMIM:182250	DDX58	23586	HP:0000327	Hypoplasia of the maxilla
OMIM:182250	DDX58	23586	HP:0000992	Cutaneous photosensitivity
OMIM:182250	DDX58	23586	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:182250	DDX58	23586	HP:0002205	Recurrent respiratory infections
OMIM:182250	DDX58	23586	HP:0001762	Talipes equinovarus
OMIM:182250	DDX58	23586	HP:0000501	Glaucoma
OMIM:182250	DDX58	23586	HP:0000319	Smooth philtrum
OMIM:182250	DDX58	23586	HP:0000337	Broad forehead
OMIM:182250	IFIH1	64135	HP:0004325	Decreased body weight
OMIM:182250	IFIH1	64135	HP:0002515	Waddling gait
OMIM:182250	IFIH1	64135	HP:0003182	Shallow acetabular fossae
OMIM:182250	IFIH1	64135	HP:0002673	Coxa valga
OMIM:182250	IFIH1	64135	HP:0001252	Muscular hypotonia
OMIM:182250	IFIH1	64135	HP:0001324	Muscle weakness
OMIM:182250	IFIH1	64135	HP:0004322	Short stature
OMIM:182250	IFIH1	64135	HP:0000545	Myopia
OMIM:182250	IFIH1	64135	HP:0001682	Subaortic stenosis
OMIM:182250	IFIH1	64135	HP:0002827	Hip dislocation
OMIM:182250	IFIH1	64135	HP:0002857	Genu valgum
OMIM:182250	IFIH1	64135	HP:0000670	Carious teeth
OMIM:182250	IFIH1	64135	HP:0001640	Cardiomegaly
OMIM:182250	IFIH1	64135	HP:0000006	Autosomal dominant inheritance
OMIM:182250	IFIH1	64135	HP:0009890	High anterior hairline
OMIM:182250	IFIH1	64135	HP:0030043	Hip Subluxation
OMIM:182250	IFIH1	64135	HP:0001806	Onycholysis
OMIM:182250	IFIH1	64135	HP:0001761	Pes cavus
OMIM:182250	IFIH1	64135	HP:0001650	Aortic valve stenosis
OMIM:182250	IFIH1	64135	HP:0000939	Osteoporosis
OMIM:182250	IFIH1	64135	HP:0001635	Congestive heart failure
OMIM:182250	IFIH1	64135	HP:0000327	Hypoplasia of the maxilla
OMIM:182250	IFIH1	64135	HP:0000992	Cutaneous photosensitivity
OMIM:182250	IFIH1	64135	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:182250	IFIH1	64135	HP:0002205	Recurrent respiratory infections
OMIM:182250	IFIH1	64135	HP:0001762	Talipes equinovarus
OMIM:182250	IFIH1	64135	HP:0000501	Glaucoma
OMIM:182250	IFIH1	64135	HP:0000319	Smooth philtrum
OMIM:182250	IFIH1	64135	HP:0000337	Broad forehead
OMIM:614814	NOTCH1	4851	HP:0000006	Autosomal dominant inheritance
OMIM:614814	NOTCH1	4851	HP:0010760	Absent toe
OMIM:614814	NOTCH1	4851	HP:0012745	Short palpebral fissure
OMIM:614814	NOTCH1	4851	HP:0009882	Short distal phalanx of finger
OMIM:614814	NOTCH1	4851	HP:0000252	Microcephaly
OMIM:614814	NOTCH1	4851	HP:0004691	2-3 toe syndactyly
OMIM:614814	NOTCH1	4851	HP:0001263	Global developmental delay
OMIM:614814	NOTCH1	4851	HP:0010743	Short metatarsal
OMIM:614814	NOTCH1	4851	HP:0000581	Blepharophimosis
OMIM:614814	DOCK6	57572	HP:0000006	Autosomal dominant inheritance
OMIM:614814	DOCK6	57572	HP:0010760	Absent toe
OMIM:614814	DOCK6	57572	HP:0012745	Short palpebral fissure
OMIM:614814	DOCK6	57572	HP:0009882	Short distal phalanx of finger
OMIM:614814	DOCK6	57572	HP:0000252	Microcephaly
OMIM:614814	DOCK6	57572	HP:0004691	2-3 toe syndactyly
OMIM:614814	DOCK6	57572	HP:0001263	Global developmental delay
OMIM:614814	DOCK6	57572	HP:0010743	Short metatarsal
OMIM:614814	DOCK6	57572	HP:0000581	Blepharophimosis
OMIM:614814	EOGT	285203	HP:0000006	Autosomal dominant inheritance
OMIM:614814	EOGT	285203	HP:0010760	Absent toe
OMIM:614814	EOGT	285203	HP:0012745	Short palpebral fissure
OMIM:614814	EOGT	285203	HP:0009882	Short distal phalanx of finger
OMIM:614814	EOGT	285203	HP:0000252	Microcephaly
OMIM:614814	EOGT	285203	HP:0004691	2-3 toe syndactyly
OMIM:614814	EOGT	285203	HP:0001263	Global developmental delay
OMIM:614814	EOGT	285203	HP:0010743	Short metatarsal
OMIM:614814	EOGT	285203	HP:0000581	Blepharophimosis
OMIM:614814	DLL4	54567	HP:0000006	Autosomal dominant inheritance
OMIM:614814	DLL4	54567	HP:0010760	Absent toe
OMIM:614814	DLL4	54567	HP:0012745	Short palpebral fissure
OMIM:614814	DLL4	54567	HP:0009882	Short distal phalanx of finger
OMIM:614814	DLL4	54567	HP:0000252	Microcephaly
OMIM:614814	DLL4	54567	HP:0004691	2-3 toe syndactyly
OMIM:614814	DLL4	54567	HP:0001263	Global developmental delay
OMIM:614814	DLL4	54567	HP:0010743	Short metatarsal
OMIM:614814	DLL4	54567	HP:0000581	Blepharophimosis
OMIM:614814	ARHGAP31	57514	HP:0000006	Autosomal dominant inheritance
OMIM:614814	ARHGAP31	57514	HP:0010760	Absent toe
OMIM:614814	ARHGAP31	57514	HP:0012745	Short palpebral fissure
OMIM:614814	ARHGAP31	57514	HP:0009882	Short distal phalanx of finger
OMIM:614814	ARHGAP31	57514	HP:0000252	Microcephaly
OMIM:614814	ARHGAP31	57514	HP:0004691	2-3 toe syndactyly
OMIM:614814	ARHGAP31	57514	HP:0001263	Global developmental delay
OMIM:614814	ARHGAP31	57514	HP:0010743	Short metatarsal
OMIM:614814	ARHGAP31	57514	HP:0000581	Blepharophimosis
OMIM:614814	RBPJ	3516	HP:0000006	Autosomal dominant inheritance
OMIM:614814	RBPJ	3516	HP:0010760	Absent toe
OMIM:614814	RBPJ	3516	HP:0012745	Short palpebral fissure
OMIM:614814	RBPJ	3516	HP:0009882	Short distal phalanx of finger
OMIM:614814	RBPJ	3516	HP:0000252	Microcephaly
OMIM:614814	RBPJ	3516	HP:0004691	2-3 toe syndactyly
OMIM:614814	RBPJ	3516	HP:0001263	Global developmental delay
OMIM:614814	RBPJ	3516	HP:0010743	Short metatarsal
OMIM:614814	RBPJ	3516	HP:0000581	Blepharophimosis
OMIM:130900	SLC24A4	123041	HP:0000689	Dental malocclusion
OMIM:130900	SLC24A4	123041	HP:0000006	Autosomal dominant inheritance
OMIM:130900	FAM83H	286077	HP:0000689	Dental malocclusion
OMIM:130900	FAM83H	286077	HP:0000006	Autosomal dominant inheritance
OMIM:130900	ITGB6	3694	HP:0000689	Dental malocclusion
OMIM:130900	ITGB6	3694	HP:0000006	Autosomal dominant inheritance
OMIM:613266	EDN3	1908	HP:0001425	Heterogeneous
OMIM:613266	EDN3	1908	HP:0000028	Cryptorchidism
OMIM:613266	EDN3	1908	HP:0000407	Sensorineural hearing impairment
OMIM:613266	EDN3	1908	HP:0002216	Premature graying of hair
OMIM:613266	EDN3	1908	HP:0001100	Heterochromia iridis
OMIM:613266	EDN3	1908	HP:0001053	Hypopigmented skin patches
OMIM:613266	EDN3	1908	HP:0000006	Autosomal dominant inheritance
OMIM:613266	EDN3	1908	HP:0002211	White forelock
OMIM:613266	EDN3	1908	HP:0002226	White eyebrow
OMIM:613266	EDN3	1908	HP:0000458	Anosmia
OMIM:613266	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:613266	EDN3	1908	HP:0000635	Blue irides
OMIM:613266	EDN3	1908	HP:0000135	Hypogonadism
OMIM:613266	EDN3	1908	HP:0002227	White eyelashes
OMIM:613266	EDNRB	1910	HP:0001425	Heterogeneous
OMIM:613266	EDNRB	1910	HP:0000028	Cryptorchidism
OMIM:613266	EDNRB	1910	HP:0000407	Sensorineural hearing impairment
OMIM:613266	EDNRB	1910	HP:0002216	Premature graying of hair
OMIM:613266	EDNRB	1910	HP:0001100	Heterochromia iridis
OMIM:613266	EDNRB	1910	HP:0001053	Hypopigmented skin patches
OMIM:613266	EDNRB	1910	HP:0000006	Autosomal dominant inheritance
OMIM:613266	EDNRB	1910	HP:0002211	White forelock
OMIM:613266	EDNRB	1910	HP:0002226	White eyebrow
OMIM:613266	EDNRB	1910	HP:0000458	Anosmia
OMIM:613266	EDNRB	1910	HP:0002251	Aganglionic megacolon
OMIM:613266	EDNRB	1910	HP:0000635	Blue irides
OMIM:613266	EDNRB	1910	HP:0000135	Hypogonadism
OMIM:613266	EDNRB	1910	HP:0002227	White eyelashes
OMIM:613266	SOX10	6663	HP:0001425	Heterogeneous
OMIM:613266	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:613266	SOX10	6663	HP:0000407	Sensorineural hearing impairment
OMIM:613266	SOX10	6663	HP:0002216	Premature graying of hair
OMIM:613266	SOX10	6663	HP:0001100	Heterochromia iridis
OMIM:613266	SOX10	6663	HP:0001053	Hypopigmented skin patches
OMIM:613266	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:613266	SOX10	6663	HP:0002211	White forelock
OMIM:613266	SOX10	6663	HP:0002226	White eyebrow
OMIM:613266	SOX10	6663	HP:0000458	Anosmia
OMIM:613266	SOX10	6663	HP:0002251	Aganglionic megacolon
OMIM:613266	SOX10	6663	HP:0000635	Blue irides
OMIM:613266	SOX10	6663	HP:0000135	Hypogonadism
OMIM:613266	SOX10	6663	HP:0002227	White eyelashes
OMIM:235400	CFH	3075	HP:0000822	Hypertension
OMIM:235400	CFH	3075	HP:0001923	Reticulocytosis
OMIM:235400	CFH	3075	HP:0005416	Decreased serum complement factor B
OMIM:235400	CFH	3075	HP:0000007	Autosomal recessive inheritance
OMIM:235400	CFH	3075	HP:0003138	Increased blood urea nitrogen (BUN)
OMIM:235400	CFH	3075	HP:0005369	Decreased serum complement factor H
OMIM:235400	CFH	3075	HP:0001873	Thrombocytopenia
OMIM:235400	CFH	3075	HP:0005575	Hemolytic-uremic syndrome
OMIM:235400	CFH	3075	HP:0001945	Fever
OMIM:235400	CFH	3075	HP:0001919	Acute kidney injury
OMIM:235400	CFH	3075	HP:0003077	Hyperlipidemia
OMIM:235400	CFH	3075	HP:0000006	Autosomal dominant inheritance
OMIM:235400	CFH	3075	HP:0100519	Anuria
OMIM:235400	CFH	3075	HP:0000979	Purpura
OMIM:235400	CFH	3075	HP:0100543	Cognitive impairment
OMIM:235400	CFH	3075	HP:0003259	Elevated serum creatinine
OMIM:235400	CFH	3075	HP:0005356	Decreased serum complement factor I
OMIM:235400	CFH	3075	HP:0002014	Diarrhea
OMIM:235400	CFH	3075	HP:0005421	Decreased serum complement C3
OMIM:235400	CFH	3075	HP:0001937	Microangiopathic hemolytic anemia
OMIM:235400	CFH	3075	HP:0001250	Seizures
OMIM:235400	CFH	3075	HP:0002357	Dysphasia
OMIM:235400	CFH	3075	HP:0001259	Coma
OMIM:235400	CFHR1	3078	HP:0000822	Hypertension
OMIM:235400	CFHR1	3078	HP:0001923	Reticulocytosis
OMIM:235400	CFHR1	3078	HP:0005416	Decreased serum complement factor B
OMIM:235400	CFHR1	3078	HP:0000007	Autosomal recessive inheritance
OMIM:235400	CFHR1	3078	HP:0003138	Increased blood urea nitrogen (BUN)
OMIM:235400	CFHR1	3078	HP:0005369	Decreased serum complement factor H
OMIM:235400	CFHR1	3078	HP:0001873	Thrombocytopenia
OMIM:235400	CFHR1	3078	HP:0005575	Hemolytic-uremic syndrome
OMIM:235400	CFHR1	3078	HP:0001945	Fever
OMIM:235400	CFHR1	3078	HP:0001919	Acute kidney injury
OMIM:235400	CFHR1	3078	HP:0003077	Hyperlipidemia
OMIM:235400	CFHR1	3078	HP:0000006	Autosomal dominant inheritance
OMIM:235400	CFHR1	3078	HP:0100519	Anuria
OMIM:235400	CFHR1	3078	HP:0000979	Purpura
OMIM:235400	CFHR1	3078	HP:0100543	Cognitive impairment
OMIM:235400	CFHR1	3078	HP:0003259	Elevated serum creatinine
OMIM:235400	CFHR1	3078	HP:0005356	Decreased serum complement factor I
OMIM:235400	CFHR1	3078	HP:0002014	Diarrhea
OMIM:235400	CFHR1	3078	HP:0005421	Decreased serum complement C3
OMIM:235400	CFHR1	3078	HP:0001937	Microangiopathic hemolytic anemia
OMIM:235400	CFHR1	3078	HP:0001250	Seizures
OMIM:235400	CFHR1	3078	HP:0002357	Dysphasia
OMIM:235400	CFHR1	3078	HP:0001259	Coma
OMIM:235400	CFHR5	81494	HP:0000822	Hypertension
OMIM:235400	CFHR5	81494	HP:0001923	Reticulocytosis
OMIM:235400	CFHR5	81494	HP:0005416	Decreased serum complement factor B
OMIM:235400	CFHR5	81494	HP:0000007	Autosomal recessive inheritance
OMIM:235400	CFHR5	81494	HP:0003138	Increased blood urea nitrogen (BUN)
OMIM:235400	CFHR5	81494	HP:0005369	Decreased serum complement factor H
OMIM:235400	CFHR5	81494	HP:0001873	Thrombocytopenia
OMIM:235400	CFHR5	81494	HP:0005575	Hemolytic-uremic syndrome
OMIM:235400	CFHR5	81494	HP:0001945	Fever
OMIM:235400	CFHR5	81494	HP:0001919	Acute kidney injury
OMIM:235400	CFHR5	81494	HP:0003077	Hyperlipidemia
OMIM:235400	CFHR5	81494	HP:0000006	Autosomal dominant inheritance
OMIM:235400	CFHR5	81494	HP:0100519	Anuria
OMIM:235400	CFHR5	81494	HP:0000979	Purpura
OMIM:235400	CFHR5	81494	HP:0100543	Cognitive impairment
OMIM:235400	CFHR5	81494	HP:0003259	Elevated serum creatinine
OMIM:235400	CFHR5	81494	HP:0005356	Decreased serum complement factor I
OMIM:235400	CFHR5	81494	HP:0002014	Diarrhea
OMIM:235400	CFHR5	81494	HP:0005421	Decreased serum complement C3
OMIM:235400	CFHR5	81494	HP:0001937	Microangiopathic hemolytic anemia
OMIM:235400	CFHR5	81494	HP:0001250	Seizures
OMIM:235400	CFHR5	81494	HP:0002357	Dysphasia
OMIM:235400	CFHR5	81494	HP:0001259	Coma
OMIM:235400	CFHR3	10878	HP:0000822	Hypertension
OMIM:235400	CFHR3	10878	HP:0001923	Reticulocytosis
OMIM:235400	CFHR3	10878	HP:0005416	Decreased serum complement factor B
OMIM:235400	CFHR3	10878	HP:0000007	Autosomal recessive inheritance
OMIM:235400	CFHR3	10878	HP:0003138	Increased blood urea nitrogen (BUN)
OMIM:235400	CFHR3	10878	HP:0005369	Decreased serum complement factor H
OMIM:235400	CFHR3	10878	HP:0001873	Thrombocytopenia
OMIM:235400	CFHR3	10878	HP:0005575	Hemolytic-uremic syndrome
OMIM:235400	CFHR3	10878	HP:0001945	Fever
OMIM:235400	CFHR3	10878	HP:0001919	Acute kidney injury
OMIM:235400	CFHR3	10878	HP:0003077	Hyperlipidemia
OMIM:235400	CFHR3	10878	HP:0000006	Autosomal dominant inheritance
OMIM:235400	CFHR3	10878	HP:0100519	Anuria
OMIM:235400	CFHR3	10878	HP:0000979	Purpura
OMIM:235400	CFHR3	10878	HP:0100543	Cognitive impairment
OMIM:235400	CFHR3	10878	HP:0003259	Elevated serum creatinine
OMIM:235400	CFHR3	10878	HP:0005356	Decreased serum complement factor I
OMIM:235400	CFHR3	10878	HP:0002014	Diarrhea
OMIM:235400	CFHR3	10878	HP:0005421	Decreased serum complement C3
OMIM:235400	CFHR3	10878	HP:0001937	Microangiopathic hemolytic anemia
OMIM:235400	CFHR3	10878	HP:0001250	Seizures
OMIM:235400	CFHR3	10878	HP:0002357	Dysphasia
OMIM:235400	CFHR3	10878	HP:0001259	Coma
ORPHANET:90354	ZNF469	84627	HP:0000405	Conductive hearing impairment
ORPHANET:90354	ZNF469	84627	HP:0000501	Glaucoma
ORPHANET:90354	ZNF469	84627	HP:0000407	Sensorineural hearing impairment
ORPHANET:90354	ZNF469	84627	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:90354	ZNF469	84627	HP:0100790	Hernia
ORPHANET:90354	ZNF469	84627	HP:0001288	Gait disturbance
ORPHANET:90354	ZNF469	84627	HP:0000592	Blue sclerae
ORPHANET:90354	ZNF469	84627	HP:0003272	Abnormality of the hip bone
ORPHANET:90354	ZNF469	84627	HP:0001633	Abnormality of the mitral valve
ORPHANET:90354	ZNF469	84627	HP:0004349	Reduced bone mineral density
ORPHANET:90354	ZNF469	84627	HP:0000175	Cleft palate
ORPHANET:90354	ZNF469	84627	HP:0000978	Bruising susceptibility
ORPHANET:90354	ZNF469	84627	HP:0001382	Joint hypermobility
ORPHANET:90354	ZNF469	84627	HP:0001131	Corneal dystrophy
ORPHANET:90354	ZNF469	84627	HP:0000505	Visual impairment
ORPHANET:90354	ZNF469	84627	HP:0100689	Decreased corneal thickness
ORPHANET:90354	ZNF469	84627	HP:0000987	Atypical scarring of skin
ORPHANET:90354	ZNF469	84627	HP:0002650	Scoliosis
ORPHANET:90354	ZNF469	84627	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:90354	ZNF469	84627	HP:0000545	Myopia
ORPHANET:90354	ZNF469	84627	HP:0002757	Recurrent fractures
ORPHANET:90354	ZNF469	84627	HP:0000164	Abnormality of the teeth
ORPHANET:90354	ZNF469	84627	HP:0000541	Retinal detachment
ORPHANET:90354	ZNF469	84627	HP:0003326	Myalgia
ORPHANET:90354	PRDM5	11107	HP:0000405	Conductive hearing impairment
ORPHANET:90354	PRDM5	11107	HP:0000501	Glaucoma
ORPHANET:90354	PRDM5	11107	HP:0000407	Sensorineural hearing impairment
ORPHANET:90354	PRDM5	11107	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:90354	PRDM5	11107	HP:0100790	Hernia
ORPHANET:90354	PRDM5	11107	HP:0001288	Gait disturbance
ORPHANET:90354	PRDM5	11107	HP:0000592	Blue sclerae
ORPHANET:90354	PRDM5	11107	HP:0003272	Abnormality of the hip bone
ORPHANET:90354	PRDM5	11107	HP:0001633	Abnormality of the mitral valve
ORPHANET:90354	PRDM5	11107	HP:0004349	Reduced bone mineral density
ORPHANET:90354	PRDM5	11107	HP:0000175	Cleft palate
ORPHANET:90354	PRDM5	11107	HP:0000978	Bruising susceptibility
ORPHANET:90354	PRDM5	11107	HP:0001382	Joint hypermobility
ORPHANET:90354	PRDM5	11107	HP:0001131	Corneal dystrophy
ORPHANET:90354	PRDM5	11107	HP:0000505	Visual impairment
ORPHANET:90354	PRDM5	11107	HP:0100689	Decreased corneal thickness
ORPHANET:90354	PRDM5	11107	HP:0000987	Atypical scarring of skin
ORPHANET:90354	PRDM5	11107	HP:0002650	Scoliosis
ORPHANET:90354	PRDM5	11107	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:90354	PRDM5	11107	HP:0000545	Myopia
ORPHANET:90354	PRDM5	11107	HP:0002757	Recurrent fractures
ORPHANET:90354	PRDM5	11107	HP:0000164	Abnormality of the teeth
ORPHANET:90354	PRDM5	11107	HP:0000541	Retinal detachment
ORPHANET:90354	PRDM5	11107	HP:0003326	Myalgia
OMIM:113000	ROR2	4920	HP:0001163	Abnormality of the metacarpal bones
OMIM:113000	ROR2	4920	HP:0002944	Thoracolumbar scoliosis
OMIM:113000	ROR2	4920	HP:0001798	Anonychia
OMIM:113000	ROR2	4920	HP:0009473	Joint contracture of the hand
OMIM:113000	ROR2	4920	HP:0001831	Short toe
OMIM:113000	ROR2	4920	HP:0009602	Abnormality of thumb phalanx
OMIM:113000	ROR2	4920	HP:0005048	Synostosis of carpal bones
OMIM:113000	ROR2	4920	HP:0002937	Hemivertebrae
OMIM:113000	ROR2	4920	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:113000	ROR2	4920	HP:0001629	Ventricular septal defect
OMIM:113000	ROR2	4920	HP:0010554	Cutaneous finger syndactyly
OMIM:113000	ROR2	4920	HP:0001159	Syndactyly
OMIM:113000	ROR2	4920	HP:0005819	Short middle phalanx of finger
OMIM:113000	ROR2	4920	HP:0012385	Camptodactyly
OMIM:113000	ROR2	4920	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
OMIM:113000	ROR2	4920	HP:0000054	Micropenis
OMIM:113000	ROR2	4920	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
OMIM:113000	ROR2	4920	HP:0000270	Delayed cranial suture closure
OMIM:113000	ROR2	4920	HP:0000696	Delayed eruption of permanent teeth
OMIM:113000	ROR2	4920	HP:0011304	Broad thumb
OMIM:113000	ROR2	4920	HP:0000006	Autosomal dominant inheritance
OMIM:113000	ROR2	4920	HP:0002948	Vertebral fusion
OMIM:113000	ROR2	4920	HP:0009882	Short distal phalanx of finger
OMIM:113000	ROR2	4920	HP:0001841	Preaxial foot polydactyly
OMIM:113000	ROR2	4920	HP:0003026	Short long bone
OMIM:113000	ROR2	4920	HP:0001760	Abnormality of the foot
OMIM:200700	BMPR1B	658	HP:0011927	Short digit
OMIM:200700	BMPR1B	658	HP:0001156	Brachydactyly syndrome
OMIM:200700	BMPR1B	658	HP:0001831	Short toe
OMIM:200700	BMPR1B	658	HP:0002991	Abnormality of the fibula
OMIM:200700	BMPR1B	658	HP:0004322	Short stature
OMIM:200700	BMPR1B	658	HP:0001163	Abnormality of the metacarpal bones
OMIM:200700	BMPR1B	658	HP:0002992	Abnormality of the tibia
OMIM:200700	BMPR1B	658	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:200700	BMPR1B	658	HP:0005736	Short tibia
OMIM:200700	BMPR1B	658	HP:0001773	Short foot
OMIM:200700	BMPR1B	658	HP:0005048	Synostosis of carpal bones
OMIM:200700	BMPR1B	658	HP:0003022	Hypoplasia of the ulna
OMIM:200700	BMPR1B	658	HP:0008873	Disproportionate short-limb short stature
OMIM:200700	BMPR1B	658	HP:0002984	Hypoplasia of the radius
OMIM:200700	BMPR1B	658	HP:0003038	Fibular hypoplasia
OMIM:200700	BMPR1B	658	HP:0001522	Death in infancy
OMIM:200700	BMPR1B	658	HP:0001162	Postaxial hand polydactyly
OMIM:200700	BMPR1B	658	HP:0002652	Skeletal dysplasia
OMIM:200700	BMPR1B	658	HP:0003826	Stillbirth
OMIM:200700	BMPR1B	658	HP:0008368	Tarsal synostosis
OMIM:200700	BMPR1B	658	HP:0002983	Micromelia
OMIM:200700	BMPR1B	658	HP:0005792	Short humerus
OMIM:200700	BMPR1B	658	HP:0000007	Autosomal recessive inheritance
OMIM:200700	BMPR1B	658	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:200700	BMPR1B	658	HP:0001376	Limitation of joint mobility
OMIM:200700	BMPR1B	658	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:200700	BMPR1B	658	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:200700	BMPR1B	658	HP:0001371	Flexion contracture
OMIM:200700	BMPR1B	658	HP:0009803	Short phalanx of finger
OMIM:200700	BMPR1B	658	HP:0006487	Bowing of the long bones
OMIM:200700	GDF5	8200	HP:0011927	Short digit
OMIM:200700	GDF5	8200	HP:0001156	Brachydactyly syndrome
OMIM:200700	GDF5	8200	HP:0001831	Short toe
OMIM:200700	GDF5	8200	HP:0002991	Abnormality of the fibula
OMIM:200700	GDF5	8200	HP:0004322	Short stature
OMIM:200700	GDF5	8200	HP:0001163	Abnormality of the metacarpal bones
OMIM:200700	GDF5	8200	HP:0002992	Abnormality of the tibia
OMIM:200700	GDF5	8200	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:200700	GDF5	8200	HP:0005736	Short tibia
OMIM:200700	GDF5	8200	HP:0001773	Short foot
OMIM:200700	GDF5	8200	HP:0005048	Synostosis of carpal bones
OMIM:200700	GDF5	8200	HP:0003022	Hypoplasia of the ulna
OMIM:200700	GDF5	8200	HP:0008873	Disproportionate short-limb short stature
OMIM:200700	GDF5	8200	HP:0002984	Hypoplasia of the radius
OMIM:200700	GDF5	8200	HP:0003038	Fibular hypoplasia
OMIM:200700	GDF5	8200	HP:0001522	Death in infancy
OMIM:200700	GDF5	8200	HP:0001162	Postaxial hand polydactyly
OMIM:200700	GDF5	8200	HP:0002652	Skeletal dysplasia
OMIM:200700	GDF5	8200	HP:0003826	Stillbirth
OMIM:200700	GDF5	8200	HP:0008368	Tarsal synostosis
OMIM:200700	GDF5	8200	HP:0002983	Micromelia
OMIM:200700	GDF5	8200	HP:0005792	Short humerus
OMIM:200700	GDF5	8200	HP:0000007	Autosomal recessive inheritance
OMIM:200700	GDF5	8200	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:200700	GDF5	8200	HP:0001376	Limitation of joint mobility
OMIM:200700	GDF5	8200	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:200700	GDF5	8200	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:200700	GDF5	8200	HP:0001371	Flexion contracture
OMIM:200700	GDF5	8200	HP:0009803	Short phalanx of finger
OMIM:200700	GDF5	8200	HP:0006487	Bowing of the long bones
OMIM:250620	HIBCH	26275	HP:0000486	Strabismus
OMIM:250620	HIBCH	26275	HP:0001999	Abnormal facial shape
OMIM:250620	HIBCH	26275	HP:0001263	Global developmental delay
OMIM:250620	HIBCH	26275	HP:0001336	Myoclonus
OMIM:250620	HIBCH	26275	HP:0001274	Agenesis of corpus callosum
OMIM:250620	HIBCH	26275	HP:0001636	Tetralogy of Fallot
OMIM:250620	HIBCH	26275	HP:0002376	Developmental regression
OMIM:250620	HIBCH	26275	HP:0011968	Feeding difficulties
OMIM:250620	HIBCH	26275	HP:0001332	Dystonia
OMIM:250620	HIBCH	26275	HP:0000286	Epicanthus
OMIM:250620	HIBCH	26275	HP:0001252	Muscular hypotonia
OMIM:250620	HIBCH	26275	HP:0003355	Aminoaciduria
OMIM:250620	HIBCH	26275	HP:0000007	Autosomal recessive inheritance
OMIM:250620	HIBCH	26275	HP:0000639	Nystagmus
OMIM:250620	HIBCH	26275	HP:0003468	Abnormality of the vertebrae
OMIM:250620	HIBCH	26275	HP:0001250	Seizures
OMIM:250620	HIBCH	26275	HP:0001310	Dysmetria
OMIM:614929	KRT85	3891	HP:0002299	Brittle hair
OMIM:614929	KRT85	3891	HP:0000007	Autosomal recessive inheritance
OMIM:614929	KRT85	3891	HP:0001806	Onycholysis
OMIM:614929	KRT85	3891	HP:0000653	Sparse eyelashes
OMIM:614929	KRT85	3891	HP:0000535	Sparse eyebrow
OMIM:614929	HOXC13	3229	HP:0002299	Brittle hair
OMIM:614929	HOXC13	3229	HP:0000007	Autosomal recessive inheritance
OMIM:614929	HOXC13	3229	HP:0001806	Onycholysis
OMIM:614929	HOXC13	3229	HP:0000653	Sparse eyelashes
OMIM:614929	HOXC13	3229	HP:0000535	Sparse eyebrow
OMIM:614929	KRT74	121391	HP:0002299	Brittle hair
OMIM:614929	KRT74	121391	HP:0000007	Autosomal recessive inheritance
OMIM:614929	KRT74	121391	HP:0001806	Onycholysis
OMIM:614929	KRT74	121391	HP:0000653	Sparse eyelashes
OMIM:614929	KRT74	121391	HP:0000535	Sparse eyebrow
OMIM:148800	ERF	2077	HP:0000520	Proptosis
OMIM:148800	ERF	2077	HP:0000238	Hydrocephalus
OMIM:148800	ERF	2077	HP:0003745	Sporadic
OMIM:148800	ERF	2077	HP:0001363	Craniosynostosis
OMIM:148800	ERF	2077	HP:0000006	Autosomal dominant inheritance
OMIM:260540	MAPT	4137	HP:0001300	Parkinsonism
OMIM:260540	MAPT	4137	HP:0001337	Tremor
OMIM:260540	MAPT	4137	HP:0002751	Kyphoscoliosis
OMIM:260540	MAPT	4137	HP:0000597	Ophthalmoparesis
OMIM:260540	MAPT	4137	HP:0002063	Rigidity
OMIM:260540	MAPT	4137	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:260540	MAPT	4137	HP:0000726	Dementia
OMIM:260540	MAPT	4137	HP:0003581	Adult onset
OMIM:260540	MAPT	4137	HP:0007256	Abnormal pyramidal signs
OMIM:615599	TAF2	6873	HP:0000252	Microcephaly
OMIM:615599	TAF2	6873	HP:0001263	Global developmental delay
OMIM:615599	TAF2	6873	HP:0001347	Hyperreflexia
OMIM:615599	TAF2	6873	HP:0002465	Poor speech
OMIM:615599	TAF2	6873	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615599	TAF2	6873	HP:0001257	Spasticity
OMIM:615599	TAF2	6873	HP:0001760	Abnormality of the foot
OMIM:615599	TAF2	6873	HP:0000007	Autosomal recessive inheritance
OMIM:615599	TAF2	6873	HP:0001249	Intellectual disability
OMIM:615599	TAF2	6873	HP:0003487	Babinski sign
OMIM:615599	TAF2	6873	HP:0012448	Delayed myelination
OMIM:615599	TAF2	6873	HP:0001647	Bicuspid aortic valve
OMIM:615599	TAF2	6873	HP:0000639	Nystagmus
OMIM:604416	PSTPIP1	9051	HP:0000006	Autosomal dominant inheritance
OMIM:604416	PSTPIP1	9051	HP:0001061	Acne
OMIM:604416	PSTPIP1	9051	HP:0001369	Arthritis
OMIM:604416	PSTPIP1	9051	HP:0002829	Arthralgia
OMIM:604416	PSTPIP1	9051	HP:0000093	Proteinuria
OMIM:604416	PSTPIP1	9051	HP:0010701	Abnormal immunoglobulin level
OMIM:604416	PSTPIP1	9051	HP:0005528	Bone marrow hypocellularity
OMIM:604416	PSTPIP1	9051	HP:0002579	Gastrointestinal dysmotility
OMIM:604416	PSTPIP1	9051	HP:0002716	Lymphadenopathy
OMIM:604416	PSTPIP1	9051	HP:0004370	Abnormality of temperature regulation
OMIM:604416	PSTPIP1	9051	HP:0001376	Limitation of joint mobility
OMIM:604416	PSTPIP1	9051	HP:0100838	Recurrent cutaneous abscess formation
OMIM:604416	PSTPIP1	9051	HP:0200042	Skin ulcer
ORPHANET:2053	MYH3	4621	HP:0000164	Abnormality of the teeth
ORPHANET:2053	MYH3	4621	HP:0004322	Short stature
ORPHANET:2053	MYH3	4621	HP:0000490	Deeply set eye
ORPHANET:2053	MYH3	4621	HP:0000160	Narrow mouth
ORPHANET:2053	MYH3	4621	HP:0000430	Underdeveloped nasal alae
ORPHANET:2053	MYH3	4621	HP:0002167	Neurological speech impairment
ORPHANET:2053	MYH3	4621	HP:0000508	Ptosis
ORPHANET:2053	MYH3	4621	HP:0001557	Prenatal movement abnormality
ORPHANET:2053	MYH3	4621	HP:0100490	Camptodactyly of finger
ORPHANET:2053	MYH3	4621	HP:0000343	Long philtrum
ORPHANET:2053	MYH3	4621	HP:0001883	Talipes
ORPHANET:2053	MYH3	4621	HP:0002650	Scoliosis
ORPHANET:2053	MYH3	4621	HP:0001561	Polyhydramnios
ORPHANET:2053	MYH3	4621	HP:0000365	Hearing impairment
ORPHANET:2053	MYH3	4621	HP:0000316	Hypertelorism
ORPHANET:2053	MYH3	4621	HP:0000431	Wide nasal bridge
ORPHANET:2053	MYH3	4621	HP:0001376	Limitation of joint mobility
ORPHANET:2053	MYH3	4621	HP:0000028	Cryptorchidism
ORPHANET:2053	MYH3	4621	HP:0005288	Abnormality of the nares
ORPHANET:2053	MYH3	4621	HP:0001562	Oligohydramnios
ORPHANET:2053	MYH3	4621	HP:0000486	Strabismus
ORPHANET:2053	MYH3	4621	HP:0100790	Hernia
ORPHANET:2053	MYH3	4621	HP:0009465	Ulnar deviation of finger
ORPHANET:2053	MYH3	4621	HP:0000494	Downslanted palpebral fissures
ORPHANET:194	SHH	6469	HP:0000612	Iris coloboma
ORPHANET:194	PAX6	5080	HP:0000612	Iris coloboma
ORPHANET:194	SALL2	6297	HP:0000612	Iris coloboma
ORPHANET:194	ABCB6	10058	HP:0000612	Iris coloboma
OMIM:217050	C6	729	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217050	C6	729	HP:0000007	Autosomal recessive inheritance
OMIM:245480	CEBPE	1053	HP:0000007	Autosomal recessive inheritance
OMIM:245480	CEBPE	1053	HP:0002719	Recurrent infections
OMIM:121900	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:121900	TGFBI	7045	HP:0000518	Cataract
OMIM:121900	TGFBI	7045	HP:0000486	Strabismus
OMIM:251290	OCLN	100506658	HP:0002120	Cerebral cortical atrophy
OMIM:251290	OCLN	100506658	HP:0003812	Phenotypic variability
OMIM:251290	OCLN	100506658	HP:0001250	Seizures
OMIM:251290	OCLN	100506658	HP:0001257	Spasticity
OMIM:251290	OCLN	100506658	HP:0001410	Decreased liver function
OMIM:251290	OCLN	100506658	HP:0000252	Microcephaly
OMIM:251290	OCLN	100506658	HP:0002910	Elevated hepatic transaminases
OMIM:251290	OCLN	100506658	HP:0001744	Splenomegaly
OMIM:251290	OCLN	100506658	HP:0000967	Petechiae
OMIM:251290	OCLN	100506658	HP:0001263	Global developmental delay
OMIM:251290	OCLN	100506658	HP:0001302	Pachygyria
OMIM:251290	OCLN	100506658	HP:0008936	Muscular hypotonia of the trunk
OMIM:251290	OCLN	100506658	HP:0000007	Autosomal recessive inheritance
OMIM:251290	OCLN	100506658	HP:0000518	Cataract
OMIM:251290	OCLN	100506658	HP:0001347	Hyperreflexia
OMIM:251290	OCLN	100506658	HP:0000369	Low-set ears
OMIM:251290	OCLN	100506658	HP:0002514	Cerebral calcification
OMIM:251290	OCLN	100506658	HP:0000952	Jaundice
OMIM:251290	OCLN	100506658	HP:0002922	Increased CSF protein
OMIM:251290	OCLN	100506658	HP:0100022	Abnormality of movement
OMIM:251290	OCLN	100506658	HP:0000343	Long philtrum
OMIM:251290	OCLN	100506658	HP:0000639	Nystagmus
OMIM:251290	OCLN	100506658	HP:0007759	Opacification of the corneal stroma
OMIM:251290	OCLN	100506658	HP:0001339	Lissencephaly
OMIM:251290	OCLN	100506658	HP:0001873	Thrombocytopenia
OMIM:251290	OCLN	100506658	HP:0000308	Microretrognathia
OMIM:251290	OCLN	100506658	HP:0002126	Polymicrogyria
OMIM:251290	OCLN	100506658	HP:0000218	High palate
OMIM:251290	OCLN	100506658	HP:0002119	Ventriculomegaly
OMIM:251290	OCLN	100506658	HP:0002187	Intellectual disability, profound
OMIM:251290	OCLN	100506658	HP:0000083	Renal insufficiency
OMIM:251290	OCLN	100506658	HP:0001508	Failure to thrive
OMIM:251290	OCLN	100506658	HP:0000463	Anteverted nares
OMIM:251290	OCLN	100506658	HP:0002240	Hepatomegaly
OMIM:251290	OCLN	100506658	HP:0000340	Sloping forehead
OMIM:251290	OCLN	100506658	HP:0001321	Cerebellar hypoplasia
OMIM:251290	OCLN	100506658	HP:0001276	Hypertonia
OMIM:614284	COL9A1	1297	HP:0000007	Autosomal recessive inheritance
OMIM:614284	COL9A1	1297	HP:0000655	Vitreoretinal degeneration
OMIM:614284	COL9A1	1297	HP:0000541	Retinal detachment
OMIM:614284	COL9A1	1297	HP:0011003	Severe Myopia
OMIM:614284	COL9A2	1298	HP:0000007	Autosomal recessive inheritance
OMIM:614284	COL9A2	1298	HP:0000655	Vitreoretinal degeneration
OMIM:614284	COL9A2	1298	HP:0000541	Retinal detachment
OMIM:614284	COL9A2	1298	HP:0011003	Severe Myopia
OMIM:614284	COL9A3	1299	HP:0000007	Autosomal recessive inheritance
OMIM:614284	COL9A3	1299	HP:0000655	Vitreoretinal degeneration
OMIM:614284	COL9A3	1299	HP:0000541	Retinal detachment
OMIM:614284	COL9A3	1299	HP:0011003	Severe Myopia
OMIM:614284	COL11A1	1301	HP:0000007	Autosomal recessive inheritance
OMIM:614284	COL11A1	1301	HP:0000655	Vitreoretinal degeneration
OMIM:614284	COL11A1	1301	HP:0000541	Retinal detachment
OMIM:614284	COL11A1	1301	HP:0011003	Severe Myopia
OMIM:162000	UMOD	7369	HP:0000112	Nephropathy
OMIM:162000	UMOD	7369	HP:0000083	Renal insufficiency
OMIM:162000	UMOD	7369	HP:0003676	Progressive
OMIM:162000	UMOD	7369	HP:0000006	Autosomal dominant inheritance
OMIM:162000	UMOD	7369	HP:0003621	Juvenile onset
OMIM:613021	SCNN1A	6337	HP:0000006	Autosomal dominant inheritance
OMIM:613021	SCNN1A	6337	HP:0002110	Bronchiectasis
OMIM:613021	SCNN1B	6338	HP:0000006	Autosomal dominant inheritance
OMIM:613021	SCNN1B	6338	HP:0002110	Bronchiectasis
OMIM:613021	SCNN1G	6340	HP:0000006	Autosomal dominant inheritance
OMIM:613021	SCNN1G	6340	HP:0002110	Bronchiectasis
OMIM:613021	CFTR	1080	HP:0000006	Autosomal dominant inheritance
OMIM:613021	CFTR	1080	HP:0002110	Bronchiectasis
OMIM:203200	OCA2	4948	HP:0008069	Neoplasm of the skin
OMIM:203200	OCA2	4948	HP:0007663	Reduced visual acuity
OMIM:203200	OCA2	4948	HP:0001107	Ocular albinism
OMIM:203200	OCA2	4948	HP:0001480	Freckling
OMIM:203200	OCA2	4948	HP:0000613	Photophobia
OMIM:203200	OCA2	4948	HP:0007894	Hypopigmentation of the fundus
OMIM:203200	OCA2	4948	HP:0002861	Melanoma
OMIM:203200	OCA2	4948	HP:0000505	Visual impairment
OMIM:203200	OCA2	4948	HP:0000639	Nystagmus
OMIM:203200	OCA2	4948	HP:0000635	Blue irides
OMIM:203200	OCA2	4948	HP:0000486	Strabismus
OMIM:203200	OCA2	4948	HP:0000648	Optic atrophy
OMIM:203200	OCA2	4948	HP:0001022	Albinism
OMIM:203200	OCA2	4948	HP:0000007	Autosomal recessive inheritance
OMIM:203200	OCA2	4948	HP:0007603	Freckles in sun-exposed areas
OMIM:203200	MC1R	4157	HP:0008069	Neoplasm of the skin
OMIM:203200	MC1R	4157	HP:0007663	Reduced visual acuity
OMIM:203200	MC1R	4157	HP:0001107	Ocular albinism
OMIM:203200	MC1R	4157	HP:0001480	Freckling
OMIM:203200	MC1R	4157	HP:0000613	Photophobia
OMIM:203200	MC1R	4157	HP:0007894	Hypopigmentation of the fundus
OMIM:203200	MC1R	4157	HP:0002861	Melanoma
OMIM:203200	MC1R	4157	HP:0000505	Visual impairment
OMIM:203200	MC1R	4157	HP:0000639	Nystagmus
OMIM:203200	MC1R	4157	HP:0000635	Blue irides
OMIM:203200	MC1R	4157	HP:0000486	Strabismus
OMIM:203200	MC1R	4157	HP:0000648	Optic atrophy
OMIM:203200	MC1R	4157	HP:0001022	Albinism
OMIM:203200	MC1R	4157	HP:0000007	Autosomal recessive inheritance
OMIM:203200	MC1R	4157	HP:0007603	Freckles in sun-exposed areas
OMIM:607015	IDUA	3425	HP:0004322	Short stature
OMIM:607015	IDUA	3425	HP:0100790	Hernia
OMIM:607015	IDUA	3425	HP:0000943	Dysostosis multiplex
OMIM:607015	IDUA	3425	HP:0002240	Hepatomegaly
OMIM:607015	IDUA	3425	HP:0007957	Corneal opacity
OMIM:607015	IDUA	3425	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607015	IDUA	3425	HP:0000762	Decreased nerve conduction velocity
OMIM:607015	IDUA	3425	HP:0000280	Coarse facial features
OMIM:607015	IDUA	3425	HP:0000007	Autosomal recessive inheritance
OMIM:607015	IDUA	3425	HP:0003416	Spinal canal stenosis
OMIM:607015	IDUA	3425	HP:0002205	Recurrent respiratory infections
OMIM:607015	IDUA	3425	HP:0002650	Scoliosis
OMIM:607015	IDUA	3425	HP:0001007	Hirsutism
OMIM:607015	IDUA	3425	HP:0001653	Mitral regurgitation
OMIM:607015	IDUA	3425	HP:0012471	Thick vermilion border
OMIM:607015	IDUA	3425	HP:0001387	Joint stiffness
OMIM:607015	IDUA	3425	HP:0007759	Opacification of the corneal stroma
OMIM:607015	IDUA	3425	HP:0001537	Umbilical hernia
OMIM:607015	IDUA	3425	HP:0002808	Kyphosis
OMIM:607015	IDUA	3425	HP:0005280	Depressed nasal bridge
OMIM:607015	IDUA	3425	HP:0001744	Splenomegaly
OMIM:607015	IDUA	3425	HP:0001376	Limitation of joint mobility
OMIM:607015	IDUA	3425	HP:0003312	Abnormal form of the vertebral bodies
OMIM:607015	IDUA	3425	HP:0001659	Aortic regurgitation
OMIM:607015	IDUA	3425	HP:0000347	Micrognathia
OMIM:607015	IDUA	3425	HP:0007256	Abnormal pyramidal signs
OMIM:607015	IDUA	3425	HP:0000407	Sensorineural hearing impairment
OMIM:607015	IDUA	3425	HP:0002652	Skeletal dysplasia
OMIM:607015	IDUA	3425	HP:0000998	Hypertrichosis
OMIM:607015	IDUA	3425	HP:0002777	Tracheal stenosis
OMIM:607015	IDUA	3425	HP:0001654	Abnormality of the heart valves
OMIM:607015	IDUA	3425	HP:0000246	Sinusitis
OMIM:146300	ALPL	249	HP:0000670	Carious teeth
OMIM:146300	ALPL	249	HP:0002756	Pathologic fracture
OMIM:146300	ALPL	249	HP:0000007	Autosomal recessive inheritance
OMIM:146300	ALPL	249	HP:0000006	Autosomal dominant inheritance
OMIM:146300	ALPL	249	HP:0002757	Recurrent fractures
OMIM:146300	ALPL	249	HP:0001760	Abnormality of the foot
OMIM:146300	ALPL	249	HP:0000934	Chondrocalcinosis
OMIM:614959	SCN1A	6323	HP:0002120	Cerebral cortical atrophy
OMIM:614959	SCN1A	6323	HP:0002529	Neuronal loss in central nervous system
OMIM:614959	SCN1A	6323	HP:0001257	Spasticity
OMIM:614959	SCN1A	6323	HP:0002445	Tetraplegia
OMIM:614959	SCN1A	6323	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614959	SCN1A	6323	HP:0002376	Developmental regression
OMIM:614959	SCN1A	6323	HP:0002171	Gliosis
OMIM:614959	SCN1A	6323	HP:0200134	Epileptic encephalopathy
OMIM:614959	SCN1A	6323	HP:0001252	Muscular hypotonia
OMIM:614959	SCN1A	6323	HP:0002133	Status epilepticus
OMIM:614959	SCN1A	6323	HP:0002169	Clonus
OMIM:614959	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:614959	SCN1A	6323	HP:0000252	Microcephaly
OMIM:614959	SCN1A	6323	HP:0003676	Progressive
OMIM:614959	PLCB1	23236	HP:0002120	Cerebral cortical atrophy
OMIM:614959	PLCB1	23236	HP:0002529	Neuronal loss in central nervous system
OMIM:614959	PLCB1	23236	HP:0001257	Spasticity
OMIM:614959	PLCB1	23236	HP:0002445	Tetraplegia
OMIM:614959	PLCB1	23236	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614959	PLCB1	23236	HP:0002376	Developmental regression
OMIM:614959	PLCB1	23236	HP:0002171	Gliosis
OMIM:614959	PLCB1	23236	HP:0200134	Epileptic encephalopathy
OMIM:614959	PLCB1	23236	HP:0001252	Muscular hypotonia
OMIM:614959	PLCB1	23236	HP:0002133	Status epilepticus
OMIM:614959	PLCB1	23236	HP:0002169	Clonus
OMIM:614959	PLCB1	23236	HP:0000006	Autosomal dominant inheritance
OMIM:614959	PLCB1	23236	HP:0000252	Microcephaly
OMIM:614959	PLCB1	23236	HP:0003676	Progressive
OMIM:614959	SLC25A22	79751	HP:0002120	Cerebral cortical atrophy
OMIM:614959	SLC25A22	79751	HP:0002529	Neuronal loss in central nervous system
OMIM:614959	SLC25A22	79751	HP:0001257	Spasticity
OMIM:614959	SLC25A22	79751	HP:0002445	Tetraplegia
OMIM:614959	SLC25A22	79751	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614959	SLC25A22	79751	HP:0002376	Developmental regression
OMIM:614959	SLC25A22	79751	HP:0002171	Gliosis
OMIM:614959	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:614959	SLC25A22	79751	HP:0001252	Muscular hypotonia
OMIM:614959	SLC25A22	79751	HP:0002133	Status epilepticus
OMIM:614959	SLC25A22	79751	HP:0002169	Clonus
OMIM:614959	SLC25A22	79751	HP:0000006	Autosomal dominant inheritance
OMIM:614959	SLC25A22	79751	HP:0000252	Microcephaly
OMIM:614959	SLC25A22	79751	HP:0003676	Progressive
OMIM:614959	TBC1D24	57465	HP:0002120	Cerebral cortical atrophy
OMIM:614959	TBC1D24	57465	HP:0002529	Neuronal loss in central nervous system
OMIM:614959	TBC1D24	57465	HP:0001257	Spasticity
OMIM:614959	TBC1D24	57465	HP:0002445	Tetraplegia
OMIM:614959	TBC1D24	57465	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614959	TBC1D24	57465	HP:0002376	Developmental regression
OMIM:614959	TBC1D24	57465	HP:0002171	Gliosis
OMIM:614959	TBC1D24	57465	HP:0200134	Epileptic encephalopathy
OMIM:614959	TBC1D24	57465	HP:0001252	Muscular hypotonia
OMIM:614959	TBC1D24	57465	HP:0002133	Status epilepticus
OMIM:614959	TBC1D24	57465	HP:0002169	Clonus
OMIM:614959	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:614959	TBC1D24	57465	HP:0000252	Microcephaly
OMIM:614959	TBC1D24	57465	HP:0003676	Progressive
OMIM:614959	SLC12A5	57468	HP:0002120	Cerebral cortical atrophy
OMIM:614959	SLC12A5	57468	HP:0002529	Neuronal loss in central nervous system
OMIM:614959	SLC12A5	57468	HP:0001257	Spasticity
OMIM:614959	SLC12A5	57468	HP:0002445	Tetraplegia
OMIM:614959	SLC12A5	57468	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614959	SLC12A5	57468	HP:0002376	Developmental regression
OMIM:614959	SLC12A5	57468	HP:0002171	Gliosis
OMIM:614959	SLC12A5	57468	HP:0200134	Epileptic encephalopathy
OMIM:614959	SLC12A5	57468	HP:0001252	Muscular hypotonia
OMIM:614959	SLC12A5	57468	HP:0002133	Status epilepticus
OMIM:614959	SLC12A5	57468	HP:0002169	Clonus
OMIM:614959	SLC12A5	57468	HP:0000006	Autosomal dominant inheritance
OMIM:614959	SLC12A5	57468	HP:0000252	Microcephaly
OMIM:614959	SLC12A5	57468	HP:0003676	Progressive
OMIM:614959	KCNT1	57582	HP:0002120	Cerebral cortical atrophy
OMIM:614959	KCNT1	57582	HP:0002529	Neuronal loss in central nervous system
OMIM:614959	KCNT1	57582	HP:0001257	Spasticity
OMIM:614959	KCNT1	57582	HP:0002445	Tetraplegia
OMIM:614959	KCNT1	57582	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614959	KCNT1	57582	HP:0002376	Developmental regression
OMIM:614959	KCNT1	57582	HP:0002171	Gliosis
OMIM:614959	KCNT1	57582	HP:0200134	Epileptic encephalopathy
OMIM:614959	KCNT1	57582	HP:0001252	Muscular hypotonia
OMIM:614959	KCNT1	57582	HP:0002133	Status epilepticus
OMIM:614959	KCNT1	57582	HP:0002169	Clonus
OMIM:614959	KCNT1	57582	HP:0000006	Autosomal dominant inheritance
OMIM:614959	KCNT1	57582	HP:0000252	Microcephaly
OMIM:614959	KCNT1	57582	HP:0003676	Progressive
OMIM:219700	TGFB1	7040	HP:0002035	Rectal prolapse
OMIM:219700	TGFB1	7040	HP:0002150	Hypercalciuria
OMIM:219700	TGFB1	7040	HP:0002099	Asthma
OMIM:219700	TGFB1	7040	HP:0002206	Pulmonary fibrosis
OMIM:219700	TGFB1	7040	HP:0002205	Recurrent respiratory infections
OMIM:219700	TGFB1	7040	HP:0001732	Abnormality of the pancreas
OMIM:219700	TGFB1	7040	HP:0001944	Dehydration
OMIM:219700	TGFB1	7040	HP:0004313	Decreased antibody level in blood
OMIM:219700	TGFB1	7040	HP:0006532	Recurrent pneumonia
OMIM:219700	TGFB1	7040	HP:0002240	Hepatomegaly
OMIM:219700	TGFB1	7040	HP:0001508	Failure to thrive
OMIM:219700	TGFB1	7040	HP:0000007	Autosomal recessive inheritance
OMIM:219700	TGFB1	7040	HP:0002110	Bronchiectasis
OMIM:219700	TGFB1	7040	HP:0003251	Male infertility
OMIM:219700	TGFB1	7040	HP:0002024	Malabsorption
OMIM:219700	TGFB1	7040	HP:0002613	Biliary cirrhosis
OMIM:219700	STX1A	6804	HP:0002035	Rectal prolapse
OMIM:219700	STX1A	6804	HP:0002150	Hypercalciuria
OMIM:219700	STX1A	6804	HP:0002099	Asthma
OMIM:219700	STX1A	6804	HP:0002206	Pulmonary fibrosis
OMIM:219700	STX1A	6804	HP:0002205	Recurrent respiratory infections
OMIM:219700	STX1A	6804	HP:0001732	Abnormality of the pancreas
OMIM:219700	STX1A	6804	HP:0001944	Dehydration
OMIM:219700	STX1A	6804	HP:0004313	Decreased antibody level in blood
OMIM:219700	STX1A	6804	HP:0006532	Recurrent pneumonia
OMIM:219700	STX1A	6804	HP:0002240	Hepatomegaly
OMIM:219700	STX1A	6804	HP:0001508	Failure to thrive
OMIM:219700	STX1A	6804	HP:0000007	Autosomal recessive inheritance
OMIM:219700	STX1A	6804	HP:0002110	Bronchiectasis
OMIM:219700	STX1A	6804	HP:0003251	Male infertility
OMIM:219700	STX1A	6804	HP:0002024	Malabsorption
OMIM:219700	STX1A	6804	HP:0002613	Biliary cirrhosis
OMIM:219700	CFTR	1080	HP:0002035	Rectal prolapse
OMIM:219700	CFTR	1080	HP:0002150	Hypercalciuria
OMIM:219700	CFTR	1080	HP:0002099	Asthma
OMIM:219700	CFTR	1080	HP:0002206	Pulmonary fibrosis
OMIM:219700	CFTR	1080	HP:0002205	Recurrent respiratory infections
OMIM:219700	CFTR	1080	HP:0001732	Abnormality of the pancreas
OMIM:219700	CFTR	1080	HP:0001944	Dehydration
OMIM:219700	CFTR	1080	HP:0004313	Decreased antibody level in blood
OMIM:219700	CFTR	1080	HP:0006532	Recurrent pneumonia
OMIM:219700	CFTR	1080	HP:0002240	Hepatomegaly
OMIM:219700	CFTR	1080	HP:0001508	Failure to thrive
OMIM:219700	CFTR	1080	HP:0000007	Autosomal recessive inheritance
OMIM:219700	CFTR	1080	HP:0002110	Bronchiectasis
OMIM:219700	CFTR	1080	HP:0003251	Male infertility
OMIM:219700	CFTR	1080	HP:0002024	Malabsorption
OMIM:219700	CFTR	1080	HP:0002613	Biliary cirrhosis
OMIM:219700	DCTN4	51164	HP:0002035	Rectal prolapse
OMIM:219700	DCTN4	51164	HP:0002150	Hypercalciuria
OMIM:219700	DCTN4	51164	HP:0002099	Asthma
OMIM:219700	DCTN4	51164	HP:0002206	Pulmonary fibrosis
OMIM:219700	DCTN4	51164	HP:0002205	Recurrent respiratory infections
OMIM:219700	DCTN4	51164	HP:0001732	Abnormality of the pancreas
OMIM:219700	DCTN4	51164	HP:0001944	Dehydration
OMIM:219700	DCTN4	51164	HP:0004313	Decreased antibody level in blood
OMIM:219700	DCTN4	51164	HP:0006532	Recurrent pneumonia
OMIM:219700	DCTN4	51164	HP:0002240	Hepatomegaly
OMIM:219700	DCTN4	51164	HP:0001508	Failure to thrive
OMIM:219700	DCTN4	51164	HP:0000007	Autosomal recessive inheritance
OMIM:219700	DCTN4	51164	HP:0002110	Bronchiectasis
OMIM:219700	DCTN4	51164	HP:0003251	Male infertility
OMIM:219700	DCTN4	51164	HP:0002024	Malabsorption
OMIM:219700	DCTN4	51164	HP:0002613	Biliary cirrhosis
OMIM:305670	GRPR	2925	HP:0001417	X-linked inheritance
OMIM:600630	UVSSA	57654	HP:0000992	Cutaneous photosensitivity
OMIM:600630	UVSSA	57654	HP:0003593	Infantile onset
OMIM:600630	UVSSA	57654	HP:0001009	Telangiectasia
OMIM:600630	UVSSA	57654	HP:0001425	Heterogeneous
OMIM:600630	UVSSA	57654	HP:0002664	Neoplasm
OMIM:600630	UVSSA	57654	HP:0001480	Freckling
OMIM:600630	UVSSA	57654	HP:0000958	Dry skin
OMIM:600630	UVSSA	57654	HP:0000007	Autosomal recessive inheritance
OMIM:600630	ERCC8	1161	HP:0000992	Cutaneous photosensitivity
OMIM:600630	ERCC8	1161	HP:0003593	Infantile onset
OMIM:600630	ERCC8	1161	HP:0001009	Telangiectasia
OMIM:600630	ERCC8	1161	HP:0001425	Heterogeneous
OMIM:600630	ERCC8	1161	HP:0002664	Neoplasm
OMIM:600630	ERCC8	1161	HP:0001480	Freckling
OMIM:600630	ERCC8	1161	HP:0000958	Dry skin
OMIM:600630	ERCC8	1161	HP:0000007	Autosomal recessive inheritance
OMIM:600630	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:600630	ERCC6	2074	HP:0003593	Infantile onset
OMIM:600630	ERCC6	2074	HP:0001009	Telangiectasia
OMIM:600630	ERCC6	2074	HP:0001425	Heterogeneous
OMIM:600630	ERCC6	2074	HP:0002664	Neoplasm
OMIM:600630	ERCC6	2074	HP:0001480	Freckling
OMIM:600630	ERCC6	2074	HP:0000958	Dry skin
OMIM:600630	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:607736	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:607736	MPZ	4359	HP:0001284	Areflexia
OMIM:607736	MPZ	4359	HP:0000478	Abnormality of the eye
OMIM:607736	MPZ	4359	HP:0002086	Abnormality of the respiratory system
OMIM:607736	MPZ	4359	HP:0009027	Foot dorsiflexor weakness
OMIM:607736	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:607736	MPZ	4359	HP:0001761	Pes cavus
OMIM:607736	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:607736	MPZ	4359	HP:0011096	Peripheral demyelination
OMIM:607736	MPZ	4359	HP:0000408	Progressive sensorineural hearing impairment
OMIM:607736	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:607736	MPZ	4359	HP:0000407	Sensorineural hearing impairment
OMIM:607736	MPZ	4359	HP:0003376	Steppage gait
OMIM:607736	MPZ	4359	HP:0002015	Dysphagia
OMIM:607736	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:616471	COL12A1	1303	HP:0003198	Myopathy
OMIM:616471	COL12A1	1303	HP:0001270	Motor delay
OMIM:616471	COL12A1	1303	HP:0001252	Muscular hypotonia
OMIM:616471	COL12A1	1303	HP:0001371	Flexion contracture
OMIM:616471	COL12A1	1303	HP:0001324	Muscle weakness
OMIM:616471	COL12A1	1303	HP:0002808	Kyphosis
OMIM:616471	COL6A1	1291	HP:0003198	Myopathy
OMIM:616471	COL6A1	1291	HP:0001270	Motor delay
OMIM:616471	COL6A1	1291	HP:0001252	Muscular hypotonia
OMIM:616471	COL6A1	1291	HP:0001371	Flexion contracture
OMIM:616471	COL6A1	1291	HP:0001324	Muscle weakness
OMIM:616471	COL6A1	1291	HP:0002808	Kyphosis
OMIM:616471	COL6A2	1292	HP:0003198	Myopathy
OMIM:616471	COL6A2	1292	HP:0001270	Motor delay
OMIM:616471	COL6A2	1292	HP:0001252	Muscular hypotonia
OMIM:616471	COL6A2	1292	HP:0001371	Flexion contracture
OMIM:616471	COL6A2	1292	HP:0001324	Muscle weakness
OMIM:616471	COL6A2	1292	HP:0002808	Kyphosis
OMIM:616471	COL6A3	1293	HP:0003198	Myopathy
OMIM:616471	COL6A3	1293	HP:0001270	Motor delay
OMIM:616471	COL6A3	1293	HP:0001252	Muscular hypotonia
OMIM:616471	COL6A3	1293	HP:0001371	Flexion contracture
OMIM:616471	COL6A3	1293	HP:0001324	Muscle weakness
OMIM:616471	COL6A3	1293	HP:0002808	Kyphosis
OMIM:151600	PLCD1	5333	HP:0005978	Type II diabetes mellitus
OMIM:151600	PLCD1	5333	HP:0000787	Nephrolithiasis
OMIM:151600	PLCD1	5333	HP:0000006	Autosomal dominant inheritance
OMIM:151600	PLCD1	5333	HP:0001231	Abnormality of the fingernails
OMIM:151600	PLCD1	5333	HP:0008388	Abnormality of the toenails
OMIM:151600	PLCD1	5333	HP:0000613	Photophobia
OMIM:151600	PLCD1	5333	HP:0000498	Blepharitis
OMIM:151600	PLCD1	5333	HP:0000007	Autosomal recessive inheritance
OMIM:254450	MPL	4352	HP:0005547	Myeloproliferative disorder
OMIM:254450	MPL	4352	HP:0000006	Autosomal dominant inheritance
OMIM:254450	MPL	4352	HP:0011974	Myelofibrosis
OMIM:254450	SH2B3	10019	HP:0005547	Myeloproliferative disorder
OMIM:254450	SH2B3	10019	HP:0000006	Autosomal dominant inheritance
OMIM:254450	SH2B3	10019	HP:0011974	Myelofibrosis
OMIM:254450	JAK2	3717	HP:0005547	Myeloproliferative disorder
OMIM:254450	JAK2	3717	HP:0000006	Autosomal dominant inheritance
OMIM:254450	JAK2	3717	HP:0011974	Myelofibrosis
OMIM:254450	TET2	54790	HP:0005547	Myeloproliferative disorder
OMIM:254450	TET2	54790	HP:0000006	Autosomal dominant inheritance
OMIM:254450	TET2	54790	HP:0011974	Myelofibrosis
OMIM:254450	CALR	811	HP:0005547	Myeloproliferative disorder
OMIM:254450	CALR	811	HP:0000006	Autosomal dominant inheritance
OMIM:254450	CALR	811	HP:0011974	Myelofibrosis
OMIM:610256	FOXE3	2301	HP:0000007	Autosomal recessive inheritance
OMIM:610256	FOXE3	2301	HP:0000568	Microphthalmia
OMIM:610256	FOXE3	2301	HP:0000647	Sclerocornea
OMIM:615817	METTL23	124512	HP:0001257	Spasticity
OMIM:615817	METTL23	124512	HP:0004322	Short stature
OMIM:615817	METTL23	124512	HP:0001249	Intellectual disability
OMIM:615817	METTL23	124512	HP:0001263	Global developmental delay
OMIM:615817	CRADD	8738	HP:0001257	Spasticity
OMIM:615817	CRADD	8738	HP:0004322	Short stature
OMIM:615817	CRADD	8738	HP:0001249	Intellectual disability
OMIM:615817	CRADD	8738	HP:0001263	Global developmental delay
OMIM:615817	NSUN2	54888	HP:0001257	Spasticity
OMIM:615817	NSUN2	54888	HP:0004322	Short stature
OMIM:615817	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:615817	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:615817	FMN2	56776	HP:0001257	Spasticity
OMIM:615817	FMN2	56776	HP:0004322	Short stature
OMIM:615817	FMN2	56776	HP:0001249	Intellectual disability
OMIM:615817	FMN2	56776	HP:0001263	Global developmental delay
OMIM:615817	CLIP1	6249	HP:0001257	Spasticity
OMIM:615817	CLIP1	6249	HP:0004322	Short stature
OMIM:615817	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:615817	CLIP1	6249	HP:0001263	Global developmental delay
OMIM:615817	ZC3H14	79882	HP:0001257	Spasticity
OMIM:615817	ZC3H14	79882	HP:0004322	Short stature
OMIM:615817	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:615817	ZC3H14	79882	HP:0001263	Global developmental delay
OMIM:615817	PRSS12	8492	HP:0001257	Spasticity
OMIM:615817	PRSS12	8492	HP:0004322	Short stature
OMIM:615817	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:615817	PRSS12	8492	HP:0001263	Global developmental delay
OMIM:615817	LINS1	55180	HP:0001257	Spasticity
OMIM:615817	LINS1	55180	HP:0004322	Short stature
OMIM:615817	LINS1	55180	HP:0001249	Intellectual disability
OMIM:615817	LINS1	55180	HP:0001263	Global developmental delay
OMIM:615817	NDST1	3340	HP:0001257	Spasticity
OMIM:615817	NDST1	3340	HP:0004322	Short stature
OMIM:615817	NDST1	3340	HP:0001249	Intellectual disability
OMIM:615817	NDST1	3340	HP:0001263	Global developmental delay
OMIM:615817	CC2D1A	54862	HP:0001257	Spasticity
OMIM:615817	CC2D1A	54862	HP:0004322	Short stature
OMIM:615817	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:615817	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:615817	FBXO31	79791	HP:0001257	Spasticity
OMIM:615817	FBXO31	79791	HP:0004322	Short stature
OMIM:615817	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:615817	FBXO31	79791	HP:0001263	Global developmental delay
OMIM:615817	CRBN	51185	HP:0001257	Spasticity
OMIM:615817	CRBN	51185	HP:0004322	Short stature
OMIM:615817	CRBN	51185	HP:0001249	Intellectual disability
OMIM:615817	CRBN	51185	HP:0001263	Global developmental delay
OMIM:615817	TRAPPC9	83696	HP:0001257	Spasticity
OMIM:615817	TRAPPC9	83696	HP:0004322	Short stature
OMIM:615817	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:615817	TRAPPC9	83696	HP:0001263	Global developmental delay
OMIM:615817	GRIK2	2898	HP:0001257	Spasticity
OMIM:615817	GRIK2	2898	HP:0004322	Short stature
OMIM:615817	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:615817	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:615817	SLC6A17	388662	HP:0001257	Spasticity
OMIM:615817	SLC6A17	388662	HP:0004322	Short stature
OMIM:615817	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:615817	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:615817	TECR	9524	HP:0001257	Spasticity
OMIM:615817	TECR	9524	HP:0004322	Short stature
OMIM:615817	TECR	9524	HP:0001249	Intellectual disability
OMIM:615817	TECR	9524	HP:0001263	Global developmental delay
OMIM:615817	MAN1B1	11253	HP:0001257	Spasticity
OMIM:615817	MAN1B1	11253	HP:0004322	Short stature
OMIM:615817	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:615817	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:615817	TUSC3	7991	HP:0001257	Spasticity
OMIM:615817	TUSC3	7991	HP:0004322	Short stature
OMIM:615817	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:615817	TUSC3	7991	HP:0001263	Global developmental delay
OMIM:615817	ST3GAL3	6487	HP:0001257	Spasticity
OMIM:615817	ST3GAL3	6487	HP:0004322	Short stature
OMIM:615817	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:615817	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:615817	EDC3	80153	HP:0001257	Spasticity
OMIM:615817	EDC3	80153	HP:0004322	Short stature
OMIM:615817	EDC3	80153	HP:0001249	Intellectual disability
OMIM:615817	EDC3	80153	HP:0001263	Global developmental delay
OMIM:615817	KIAA1033	23325	HP:0001257	Spasticity
OMIM:615817	KIAA1033	23325	HP:0004322	Short stature
OMIM:615817	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:615817	KIAA1033	23325	HP:0001263	Global developmental delay
OMIM:615817	MED13L	23389	HP:0001257	Spasticity
OMIM:615817	MED13L	23389	HP:0004322	Short stature
OMIM:615817	MED13L	23389	HP:0001249	Intellectual disability
OMIM:615817	MED13L	23389	HP:0001263	Global developmental delay
OMIM:615817	MED23	9439	HP:0001257	Spasticity
OMIM:615817	MED23	9439	HP:0004322	Short stature
OMIM:615817	MED23	9439	HP:0001249	Intellectual disability
OMIM:615817	MED23	9439	HP:0001263	Global developmental delay
ORPHANET:44	PEX19	5824	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX19	5824	HP:0001250	Seizures
ORPHANET:44	PEX19	5824	HP:0000505	Visual impairment
ORPHANET:44	PEX19	5824	HP:0000256	Macrocephaly
ORPHANET:44	PEX19	5824	HP:0000268	Dolichocephaly
ORPHANET:44	PEX19	5824	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX19	5824	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX19	5824	HP:0000639	Nystagmus
ORPHANET:44	PEX19	5824	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX19	5824	HP:0002376	Developmental regression
ORPHANET:44	PEX19	5824	HP:0000508	Ptosis
ORPHANET:44	PEX19	5824	HP:0000348	High forehead
ORPHANET:44	PEX19	5824	HP:0000518	Cataract
ORPHANET:44	PEX19	5824	HP:0004322	Short stature
ORPHANET:44	PEX19	5824	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX19	5824	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX19	5824	HP:0001347	Hyperreflexia
ORPHANET:44	PEX19	5824	HP:0000486	Strabismus
ORPHANET:44	PEX19	5824	HP:0000648	Optic atrophy
ORPHANET:44	PEX19	5824	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX19	5824	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX19	5824	HP:0100022	Abnormality of movement
ORPHANET:44	PEX19	5824	HP:0002353	EEG abnormality
ORPHANET:44	PEX19	5824	HP:0100543	Cognitive impairment
ORPHANET:44	PEX19	5824	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX19	5824	HP:0000463	Anteverted nares
ORPHANET:44	PEX19	5824	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX19	5824	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX16	9409	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX16	9409	HP:0001250	Seizures
ORPHANET:44	PEX16	9409	HP:0000505	Visual impairment
ORPHANET:44	PEX16	9409	HP:0000256	Macrocephaly
ORPHANET:44	PEX16	9409	HP:0000268	Dolichocephaly
ORPHANET:44	PEX16	9409	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX16	9409	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX16	9409	HP:0000639	Nystagmus
ORPHANET:44	PEX16	9409	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX16	9409	HP:0002376	Developmental regression
ORPHANET:44	PEX16	9409	HP:0000508	Ptosis
ORPHANET:44	PEX16	9409	HP:0000348	High forehead
ORPHANET:44	PEX16	9409	HP:0000518	Cataract
ORPHANET:44	PEX16	9409	HP:0004322	Short stature
ORPHANET:44	PEX16	9409	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX16	9409	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX16	9409	HP:0001347	Hyperreflexia
ORPHANET:44	PEX16	9409	HP:0000486	Strabismus
ORPHANET:44	PEX16	9409	HP:0000648	Optic atrophy
ORPHANET:44	PEX16	9409	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX16	9409	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX16	9409	HP:0100022	Abnormality of movement
ORPHANET:44	PEX16	9409	HP:0002353	EEG abnormality
ORPHANET:44	PEX16	9409	HP:0100543	Cognitive impairment
ORPHANET:44	PEX16	9409	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX16	9409	HP:0000463	Anteverted nares
ORPHANET:44	PEX16	9409	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX16	9409	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX2	5828	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX2	5828	HP:0001250	Seizures
ORPHANET:44	PEX2	5828	HP:0000505	Visual impairment
ORPHANET:44	PEX2	5828	HP:0000256	Macrocephaly
ORPHANET:44	PEX2	5828	HP:0000268	Dolichocephaly
ORPHANET:44	PEX2	5828	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX2	5828	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX2	5828	HP:0000639	Nystagmus
ORPHANET:44	PEX2	5828	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX2	5828	HP:0002376	Developmental regression
ORPHANET:44	PEX2	5828	HP:0000508	Ptosis
ORPHANET:44	PEX2	5828	HP:0000348	High forehead
ORPHANET:44	PEX2	5828	HP:0000518	Cataract
ORPHANET:44	PEX2	5828	HP:0004322	Short stature
ORPHANET:44	PEX2	5828	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX2	5828	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX2	5828	HP:0001347	Hyperreflexia
ORPHANET:44	PEX2	5828	HP:0000486	Strabismus
ORPHANET:44	PEX2	5828	HP:0000648	Optic atrophy
ORPHANET:44	PEX2	5828	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX2	5828	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX2	5828	HP:0100022	Abnormality of movement
ORPHANET:44	PEX2	5828	HP:0002353	EEG abnormality
ORPHANET:44	PEX2	5828	HP:0100543	Cognitive impairment
ORPHANET:44	PEX2	5828	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX2	5828	HP:0000463	Anteverted nares
ORPHANET:44	PEX2	5828	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX2	5828	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX1	5189	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX1	5189	HP:0001250	Seizures
ORPHANET:44	PEX1	5189	HP:0000505	Visual impairment
ORPHANET:44	PEX1	5189	HP:0000256	Macrocephaly
ORPHANET:44	PEX1	5189	HP:0000268	Dolichocephaly
ORPHANET:44	PEX1	5189	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX1	5189	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX1	5189	HP:0000639	Nystagmus
ORPHANET:44	PEX1	5189	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX1	5189	HP:0002376	Developmental regression
ORPHANET:44	PEX1	5189	HP:0000508	Ptosis
ORPHANET:44	PEX1	5189	HP:0000348	High forehead
ORPHANET:44	PEX1	5189	HP:0000518	Cataract
ORPHANET:44	PEX1	5189	HP:0004322	Short stature
ORPHANET:44	PEX1	5189	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX1	5189	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX1	5189	HP:0001347	Hyperreflexia
ORPHANET:44	PEX1	5189	HP:0000486	Strabismus
ORPHANET:44	PEX1	5189	HP:0000648	Optic atrophy
ORPHANET:44	PEX1	5189	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX1	5189	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX1	5189	HP:0100022	Abnormality of movement
ORPHANET:44	PEX1	5189	HP:0002353	EEG abnormality
ORPHANET:44	PEX1	5189	HP:0100543	Cognitive impairment
ORPHANET:44	PEX1	5189	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX1	5189	HP:0000463	Anteverted nares
ORPHANET:44	PEX1	5189	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX1	5189	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX5	5830	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX5	5830	HP:0001250	Seizures
ORPHANET:44	PEX5	5830	HP:0000505	Visual impairment
ORPHANET:44	PEX5	5830	HP:0000256	Macrocephaly
ORPHANET:44	PEX5	5830	HP:0000268	Dolichocephaly
ORPHANET:44	PEX5	5830	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX5	5830	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX5	5830	HP:0000639	Nystagmus
ORPHANET:44	PEX5	5830	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX5	5830	HP:0002376	Developmental regression
ORPHANET:44	PEX5	5830	HP:0000508	Ptosis
ORPHANET:44	PEX5	5830	HP:0000348	High forehead
ORPHANET:44	PEX5	5830	HP:0000518	Cataract
ORPHANET:44	PEX5	5830	HP:0004322	Short stature
ORPHANET:44	PEX5	5830	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX5	5830	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX5	5830	HP:0001347	Hyperreflexia
ORPHANET:44	PEX5	5830	HP:0000486	Strabismus
ORPHANET:44	PEX5	5830	HP:0000648	Optic atrophy
ORPHANET:44	PEX5	5830	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX5	5830	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX5	5830	HP:0100022	Abnormality of movement
ORPHANET:44	PEX5	5830	HP:0002353	EEG abnormality
ORPHANET:44	PEX5	5830	HP:0100543	Cognitive impairment
ORPHANET:44	PEX5	5830	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX5	5830	HP:0000463	Anteverted nares
ORPHANET:44	PEX5	5830	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX5	5830	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX6	5190	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX6	5190	HP:0001250	Seizures
ORPHANET:44	PEX6	5190	HP:0000505	Visual impairment
ORPHANET:44	PEX6	5190	HP:0000256	Macrocephaly
ORPHANET:44	PEX6	5190	HP:0000268	Dolichocephaly
ORPHANET:44	PEX6	5190	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX6	5190	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX6	5190	HP:0000639	Nystagmus
ORPHANET:44	PEX6	5190	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX6	5190	HP:0002376	Developmental regression
ORPHANET:44	PEX6	5190	HP:0000508	Ptosis
ORPHANET:44	PEX6	5190	HP:0000348	High forehead
ORPHANET:44	PEX6	5190	HP:0000518	Cataract
ORPHANET:44	PEX6	5190	HP:0004322	Short stature
ORPHANET:44	PEX6	5190	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX6	5190	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX6	5190	HP:0001347	Hyperreflexia
ORPHANET:44	PEX6	5190	HP:0000486	Strabismus
ORPHANET:44	PEX6	5190	HP:0000648	Optic atrophy
ORPHANET:44	PEX6	5190	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX6	5190	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX6	5190	HP:0100022	Abnormality of movement
ORPHANET:44	PEX6	5190	HP:0002353	EEG abnormality
ORPHANET:44	PEX6	5190	HP:0100543	Cognitive impairment
ORPHANET:44	PEX6	5190	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX6	5190	HP:0000463	Anteverted nares
ORPHANET:44	PEX6	5190	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX6	5190	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX10	5192	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX10	5192	HP:0001250	Seizures
ORPHANET:44	PEX10	5192	HP:0000505	Visual impairment
ORPHANET:44	PEX10	5192	HP:0000256	Macrocephaly
ORPHANET:44	PEX10	5192	HP:0000268	Dolichocephaly
ORPHANET:44	PEX10	5192	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX10	5192	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX10	5192	HP:0000639	Nystagmus
ORPHANET:44	PEX10	5192	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX10	5192	HP:0002376	Developmental regression
ORPHANET:44	PEX10	5192	HP:0000508	Ptosis
ORPHANET:44	PEX10	5192	HP:0000348	High forehead
ORPHANET:44	PEX10	5192	HP:0000518	Cataract
ORPHANET:44	PEX10	5192	HP:0004322	Short stature
ORPHANET:44	PEX10	5192	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX10	5192	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX10	5192	HP:0001347	Hyperreflexia
ORPHANET:44	PEX10	5192	HP:0000486	Strabismus
ORPHANET:44	PEX10	5192	HP:0000648	Optic atrophy
ORPHANET:44	PEX10	5192	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX10	5192	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX10	5192	HP:0100022	Abnormality of movement
ORPHANET:44	PEX10	5192	HP:0002353	EEG abnormality
ORPHANET:44	PEX10	5192	HP:0100543	Cognitive impairment
ORPHANET:44	PEX10	5192	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX10	5192	HP:0000463	Anteverted nares
ORPHANET:44	PEX10	5192	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX10	5192	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX12	5193	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX12	5193	HP:0001250	Seizures
ORPHANET:44	PEX12	5193	HP:0000505	Visual impairment
ORPHANET:44	PEX12	5193	HP:0000256	Macrocephaly
ORPHANET:44	PEX12	5193	HP:0000268	Dolichocephaly
ORPHANET:44	PEX12	5193	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX12	5193	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX12	5193	HP:0000639	Nystagmus
ORPHANET:44	PEX12	5193	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX12	5193	HP:0002376	Developmental regression
ORPHANET:44	PEX12	5193	HP:0000508	Ptosis
ORPHANET:44	PEX12	5193	HP:0000348	High forehead
ORPHANET:44	PEX12	5193	HP:0000518	Cataract
ORPHANET:44	PEX12	5193	HP:0004322	Short stature
ORPHANET:44	PEX12	5193	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX12	5193	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX12	5193	HP:0001347	Hyperreflexia
ORPHANET:44	PEX12	5193	HP:0000486	Strabismus
ORPHANET:44	PEX12	5193	HP:0000648	Optic atrophy
ORPHANET:44	PEX12	5193	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX12	5193	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX12	5193	HP:0100022	Abnormality of movement
ORPHANET:44	PEX12	5193	HP:0002353	EEG abnormality
ORPHANET:44	PEX12	5193	HP:0100543	Cognitive impairment
ORPHANET:44	PEX12	5193	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX12	5193	HP:0000463	Anteverted nares
ORPHANET:44	PEX12	5193	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX12	5193	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX13	5194	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX13	5194	HP:0001250	Seizures
ORPHANET:44	PEX13	5194	HP:0000505	Visual impairment
ORPHANET:44	PEX13	5194	HP:0000256	Macrocephaly
ORPHANET:44	PEX13	5194	HP:0000268	Dolichocephaly
ORPHANET:44	PEX13	5194	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX13	5194	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX13	5194	HP:0000639	Nystagmus
ORPHANET:44	PEX13	5194	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX13	5194	HP:0002376	Developmental regression
ORPHANET:44	PEX13	5194	HP:0000508	Ptosis
ORPHANET:44	PEX13	5194	HP:0000348	High forehead
ORPHANET:44	PEX13	5194	HP:0000518	Cataract
ORPHANET:44	PEX13	5194	HP:0004322	Short stature
ORPHANET:44	PEX13	5194	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX13	5194	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX13	5194	HP:0001347	Hyperreflexia
ORPHANET:44	PEX13	5194	HP:0000486	Strabismus
ORPHANET:44	PEX13	5194	HP:0000648	Optic atrophy
ORPHANET:44	PEX13	5194	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX13	5194	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX13	5194	HP:0100022	Abnormality of movement
ORPHANET:44	PEX13	5194	HP:0002353	EEG abnormality
ORPHANET:44	PEX13	5194	HP:0100543	Cognitive impairment
ORPHANET:44	PEX13	5194	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX13	5194	HP:0000463	Anteverted nares
ORPHANET:44	PEX13	5194	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX13	5194	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX14	5195	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX14	5195	HP:0001250	Seizures
ORPHANET:44	PEX14	5195	HP:0000505	Visual impairment
ORPHANET:44	PEX14	5195	HP:0000256	Macrocephaly
ORPHANET:44	PEX14	5195	HP:0000268	Dolichocephaly
ORPHANET:44	PEX14	5195	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX14	5195	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX14	5195	HP:0000639	Nystagmus
ORPHANET:44	PEX14	5195	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX14	5195	HP:0002376	Developmental regression
ORPHANET:44	PEX14	5195	HP:0000508	Ptosis
ORPHANET:44	PEX14	5195	HP:0000348	High forehead
ORPHANET:44	PEX14	5195	HP:0000518	Cataract
ORPHANET:44	PEX14	5195	HP:0004322	Short stature
ORPHANET:44	PEX14	5195	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX14	5195	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX14	5195	HP:0001347	Hyperreflexia
ORPHANET:44	PEX14	5195	HP:0000486	Strabismus
ORPHANET:44	PEX14	5195	HP:0000648	Optic atrophy
ORPHANET:44	PEX14	5195	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX14	5195	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX14	5195	HP:0100022	Abnormality of movement
ORPHANET:44	PEX14	5195	HP:0002353	EEG abnormality
ORPHANET:44	PEX14	5195	HP:0100543	Cognitive impairment
ORPHANET:44	PEX14	5195	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX14	5195	HP:0000463	Anteverted nares
ORPHANET:44	PEX14	5195	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX14	5195	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX26	55670	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX26	55670	HP:0001250	Seizures
ORPHANET:44	PEX26	55670	HP:0000505	Visual impairment
ORPHANET:44	PEX26	55670	HP:0000256	Macrocephaly
ORPHANET:44	PEX26	55670	HP:0000268	Dolichocephaly
ORPHANET:44	PEX26	55670	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX26	55670	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX26	55670	HP:0000639	Nystagmus
ORPHANET:44	PEX26	55670	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX26	55670	HP:0002376	Developmental regression
ORPHANET:44	PEX26	55670	HP:0000508	Ptosis
ORPHANET:44	PEX26	55670	HP:0000348	High forehead
ORPHANET:44	PEX26	55670	HP:0000518	Cataract
ORPHANET:44	PEX26	55670	HP:0004322	Short stature
ORPHANET:44	PEX26	55670	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX26	55670	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX26	55670	HP:0001347	Hyperreflexia
ORPHANET:44	PEX26	55670	HP:0000486	Strabismus
ORPHANET:44	PEX26	55670	HP:0000648	Optic atrophy
ORPHANET:44	PEX26	55670	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX26	55670	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX26	55670	HP:0100022	Abnormality of movement
ORPHANET:44	PEX26	55670	HP:0002353	EEG abnormality
ORPHANET:44	PEX26	55670	HP:0100543	Cognitive impairment
ORPHANET:44	PEX26	55670	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX26	55670	HP:0000463	Anteverted nares
ORPHANET:44	PEX26	55670	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX26	55670	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX3	8504	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX3	8504	HP:0001250	Seizures
ORPHANET:44	PEX3	8504	HP:0000505	Visual impairment
ORPHANET:44	PEX3	8504	HP:0000256	Macrocephaly
ORPHANET:44	PEX3	8504	HP:0000268	Dolichocephaly
ORPHANET:44	PEX3	8504	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX3	8504	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX3	8504	HP:0000639	Nystagmus
ORPHANET:44	PEX3	8504	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX3	8504	HP:0002376	Developmental regression
ORPHANET:44	PEX3	8504	HP:0000508	Ptosis
ORPHANET:44	PEX3	8504	HP:0000348	High forehead
ORPHANET:44	PEX3	8504	HP:0000518	Cataract
ORPHANET:44	PEX3	8504	HP:0004322	Short stature
ORPHANET:44	PEX3	8504	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX3	8504	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX3	8504	HP:0001347	Hyperreflexia
ORPHANET:44	PEX3	8504	HP:0000486	Strabismus
ORPHANET:44	PEX3	8504	HP:0000648	Optic atrophy
ORPHANET:44	PEX3	8504	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX3	8504	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX3	8504	HP:0100022	Abnormality of movement
ORPHANET:44	PEX3	8504	HP:0002353	EEG abnormality
ORPHANET:44	PEX3	8504	HP:0100543	Cognitive impairment
ORPHANET:44	PEX3	8504	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX3	8504	HP:0000463	Anteverted nares
ORPHANET:44	PEX3	8504	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX3	8504	HP:0001392	Abnormality of the liver
ORPHANET:44	PEX11B	8799	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:44	PEX11B	8799	HP:0001250	Seizures
ORPHANET:44	PEX11B	8799	HP:0000505	Visual impairment
ORPHANET:44	PEX11B	8799	HP:0000256	Macrocephaly
ORPHANET:44	PEX11B	8799	HP:0000268	Dolichocephaly
ORPHANET:44	PEX11B	8799	HP:0001252	Muscular hypotonia
ORPHANET:44	PEX11B	8799	HP:0008207	Primary adrenal insufficiency
ORPHANET:44	PEX11B	8799	HP:0000639	Nystagmus
ORPHANET:44	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
ORPHANET:44	PEX11B	8799	HP:0002376	Developmental regression
ORPHANET:44	PEX11B	8799	HP:0000508	Ptosis
ORPHANET:44	PEX11B	8799	HP:0000348	High forehead
ORPHANET:44	PEX11B	8799	HP:0000518	Cataract
ORPHANET:44	PEX11B	8799	HP:0004322	Short stature
ORPHANET:44	PEX11B	8799	HP:0002269	Abnormality of neuronal migration
ORPHANET:44	PEX11B	8799	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:44	PEX11B	8799	HP:0001347	Hyperreflexia
ORPHANET:44	PEX11B	8799	HP:0000486	Strabismus
ORPHANET:44	PEX11B	8799	HP:0000648	Optic atrophy
ORPHANET:44	PEX11B	8799	HP:0000954	Single transverse palmar crease
ORPHANET:44	PEX11B	8799	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:44	PEX11B	8799	HP:0100022	Abnormality of movement
ORPHANET:44	PEX11B	8799	HP:0002353	EEG abnormality
ORPHANET:44	PEX11B	8799	HP:0100543	Cognitive impairment
ORPHANET:44	PEX11B	8799	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:44	PEX11B	8799	HP:0000463	Anteverted nares
ORPHANET:44	PEX11B	8799	HP:0000174	Abnormality of the palate
ORPHANET:44	PEX11B	8799	HP:0001392	Abnormality of the liver
OMIM:169400	LBR	3930	HP:0000403	Recurrent otitis media
OMIM:169400	LBR	3930	HP:0000486	Strabismus
OMIM:169400	LBR	3930	HP:0002007	Frontal bossing
OMIM:169400	LBR	3930	HP:0000212	Gingival overgrowth
OMIM:169400	LBR	3930	HP:0000164	Abnormality of the teeth
OMIM:169400	LBR	3930	HP:0001629	Ventricular septal defect
OMIM:169400	LBR	3930	HP:0001761	Pes cavus
OMIM:169400	LBR	3930	HP:0002808	Kyphosis
OMIM:169400	LBR	3930	HP:0002069	Generalized tonic-clonic seizures
OMIM:169400	LBR	3930	HP:0009027	Foot dorsiflexor weakness
OMIM:169400	LBR	3930	HP:0009099	Median cleft palate
OMIM:169400	LBR	3930	HP:0002916	Abnormality of chromosome segregation
OMIM:169400	LBR	3930	HP:0000316	Hypertelorism
OMIM:169400	LBR	3930	HP:0001508	Failure to thrive
OMIM:169400	LBR	3930	HP:0001249	Intellectual disability
OMIM:169400	LBR	3930	HP:0005280	Depressed nasal bridge
OMIM:169400	LBR	3930	HP:0001875	Neutropenia
OMIM:169400	LBR	3930	HP:0009824	Upper limb undergrowth
OMIM:169400	LBR	3930	HP:0001873	Thrombocytopenia
OMIM:169400	LBR	3930	HP:0000964	Eczema
OMIM:169400	LBR	3930	HP:0001537	Umbilical hernia
OMIM:169400	LBR	3930	HP:0000006	Autosomal dominant inheritance
OMIM:169400	LBR	3930	HP:0000256	Macrocephaly
OMIM:144750	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:144750	LRP5	4041	HP:0000772	Abnormality of the ribs
OMIM:144750	LRP5	4041	HP:0000407	Sensorineural hearing impairment
OMIM:144750	LRP5	4041	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:144750	LRP5	4041	HP:0000639	Nystagmus
OMIM:144750	LRP5	4041	HP:0004493	Craniofacial hyperostosis
OMIM:144750	LRP5	4041	HP:0001507	Growth abnormality
OMIM:144750	LRP5	4041	HP:0100789	Torus palatinus
OMIM:144750	LRP5	4041	HP:0003312	Abnormal form of the vertebral bodies
OMIM:144750	LRP5	4041	HP:0003103	Abnormal cortical bone morphology
OMIM:144750	LRP5	4041	HP:0010628	Facial palsy
OMIM:144750	LRP5	4041	HP:0000303	Mandibular prognathia
OMIM:144750	LRP5	4041	HP:0000689	Dental malocclusion
OMIM:104310	PSEN2	5664	HP:0003584	Late onset
OMIM:104310	PSEN2	5664	HP:0000726	Dementia
OMIM:104310	PSEN2	5664	HP:0001300	Parkinsonism
OMIM:104310	APOE	348	HP:0003584	Late onset
OMIM:104310	APOE	348	HP:0000726	Dementia
OMIM:104310	APOE	348	HP:0001300	Parkinsonism
OMIM:104310	SORL1	6653	HP:0003584	Late onset
OMIM:104310	SORL1	6653	HP:0000726	Dementia
OMIM:104310	SORL1	6653	HP:0001300	Parkinsonism
OMIM:104310	PSEN1	5663	HP:0003584	Late onset
OMIM:104310	PSEN1	5663	HP:0000726	Dementia
OMIM:104310	PSEN1	5663	HP:0001300	Parkinsonism
OMIM:104310	APP	351	HP:0003584	Late onset
OMIM:104310	APP	351	HP:0000726	Dementia
OMIM:104310	APP	351	HP:0001300	Parkinsonism
OMIM:263700	UROS	7390	HP:0001878	Hemolytic anemia
OMIM:263700	UROS	7390	HP:0002757	Recurrent fractures
OMIM:263700	UROS	7390	HP:0002797	Osteolysis
OMIM:263700	UROS	7390	HP:0001010	Hypopigmentation of the skin
OMIM:263700	UROS	7390	HP:0004349	Reduced bone mineral density
OMIM:263700	UROS	7390	HP:0000992	Cutaneous photosensitivity
OMIM:263700	UROS	7390	HP:0000953	Hyperpigmentation of the skin
OMIM:263700	UROS	7390	HP:0003110	Abnormality of urine homeostasis
OMIM:263700	UROS	7390	HP:0004322	Short stature
OMIM:263700	UROS	7390	HP:0009473	Joint contracture of the hand
OMIM:263700	UROS	7390	HP:0000509	Conjunctivitis
OMIM:263700	UROS	7390	HP:0001744	Splenomegaly
OMIM:263700	UROS	7390	HP:0000938	Osteopenia
OMIM:263700	UROS	7390	HP:0001873	Thrombocytopenia
OMIM:263700	UROS	7390	HP:0002756	Pathologic fracture
OMIM:263700	UROS	7390	HP:0003577	Congenital onset
OMIM:263700	UROS	7390	HP:0100716	Self-injurious behavior
OMIM:263700	UROS	7390	HP:0001081	Cholelithiasis
OMIM:263700	UROS	7390	HP:0010978	Abnormality of immune system physiology
OMIM:263700	UROS	7390	HP:0000998	Hypertrichosis
OMIM:263700	UROS	7390	HP:0000987	Atypical scarring of skin
OMIM:263700	UROS	7390	HP:0001072	Thickened skin
OMIM:263700	UROS	7390	HP:0000153	Abnormality of the mouth
OMIM:263700	UROS	7390	HP:0001596	Alopecia
OMIM:263700	UROS	7390	HP:0000007	Autosomal recessive inheritance
OMIM:263700	GATA1	2623	HP:0001878	Hemolytic anemia
OMIM:263700	GATA1	2623	HP:0002757	Recurrent fractures
OMIM:263700	GATA1	2623	HP:0002797	Osteolysis
OMIM:263700	GATA1	2623	HP:0001010	Hypopigmentation of the skin
OMIM:263700	GATA1	2623	HP:0004349	Reduced bone mineral density
OMIM:263700	GATA1	2623	HP:0000992	Cutaneous photosensitivity
OMIM:263700	GATA1	2623	HP:0000953	Hyperpigmentation of the skin
OMIM:263700	GATA1	2623	HP:0003110	Abnormality of urine homeostasis
OMIM:263700	GATA1	2623	HP:0004322	Short stature
OMIM:263700	GATA1	2623	HP:0009473	Joint contracture of the hand
OMIM:263700	GATA1	2623	HP:0000509	Conjunctivitis
OMIM:263700	GATA1	2623	HP:0001744	Splenomegaly
OMIM:263700	GATA1	2623	HP:0000938	Osteopenia
OMIM:263700	GATA1	2623	HP:0001873	Thrombocytopenia
OMIM:263700	GATA1	2623	HP:0002756	Pathologic fracture
OMIM:263700	GATA1	2623	HP:0003577	Congenital onset
OMIM:263700	GATA1	2623	HP:0100716	Self-injurious behavior
OMIM:263700	GATA1	2623	HP:0001081	Cholelithiasis
OMIM:263700	GATA1	2623	HP:0010978	Abnormality of immune system physiology
OMIM:263700	GATA1	2623	HP:0000998	Hypertrichosis
OMIM:263700	GATA1	2623	HP:0000987	Atypical scarring of skin
OMIM:263700	GATA1	2623	HP:0001072	Thickened skin
OMIM:263700	GATA1	2623	HP:0000153	Abnormality of the mouth
OMIM:263700	GATA1	2623	HP:0001596	Alopecia
OMIM:263700	GATA1	2623	HP:0000007	Autosomal recessive inheritance
OMIM:601042	SLC2A1	6513	HP:0001266	Choreoathetosis
OMIM:601042	SLC2A1	6513	HP:0001260	Dysarthria
OMIM:601042	SLC2A1	6513	HP:0002076	Migraine
OMIM:601042	SLC2A1	6513	HP:0000006	Autosomal dominant inheritance
OMIM:601042	SLC2A1	6513	HP:0100543	Cognitive impairment
OMIM:601042	SLC2A1	6513	HP:0003401	Paresthesia
OMIM:601042	SLC2A1	6513	HP:0007256	Abnormal pyramidal signs
OMIM:601042	SLC2A1	6513	HP:0001347	Hyperreflexia
OMIM:601042	SLC2A1	6513	HP:0001258	Spastic paraplegia
OMIM:601042	SLC2A1	6513	HP:0100660	Dyskinesia
OMIM:601042	SLC2A1	6513	HP:0002131	Episodic ataxia
OMIM:601042	SLC2A1	6513	HP:0001332	Dystonia
OMIM:601042	SLC2A1	6513	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:601042	SLC2A1	6513	HP:0002315	Headache
OMIM:607259	SPG7	6687	HP:0001258	Spastic paraplegia
OMIM:607259	SPG7	6687	HP:0001347	Hyperreflexia
OMIM:607259	SPG7	6687	HP:0002061	Lower limb spasticity
OMIM:607259	SPG7	6687	HP:0000006	Autosomal dominant inheritance
OMIM:607259	SPG7	6687	HP:0000020	Urinary incontinence
OMIM:607259	SPG7	6687	HP:0000007	Autosomal recessive inheritance
OMIM:607259	SPG7	6687	HP:0000648	Optic atrophy
OMIM:607259	SPG7	6687	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:607259	SPG7	6687	HP:0002120	Cerebral cortical atrophy
OMIM:607259	SPG7	6687	HP:0003487	Babinski sign
OMIM:607259	SPG7	6687	HP:0000639	Nystagmus
OMIM:607259	SPG7	6687	HP:0003581	Adult onset
OMIM:607259	SPG7	6687	HP:0002015	Dysphagia
OMIM:607259	SPG7	6687	HP:0001260	Dysarthria
OMIM:607259	SPG7	6687	HP:0001272	Cerebellar atrophy
OMIM:607259	SPG7	6687	HP:0002066	Gait ataxia
OMIM:607259	SPG7	6687	HP:0007340	Lower limb muscle weakness
OMIM:607259	SPG7	6687	HP:0000012	Urinary urgency
OMIM:607259	SPG7	6687	HP:0002354	Memory impairment
OMIM:607259	SPG7	6687	HP:0001761	Pes cavus
OMIM:607259	SPG7	6687	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:607259	SPG7	6687	HP:0002064	Spastic gait
OMIM:607259	SPG7	6687	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:607259	SPG7	6687	HP:0002650	Scoliosis
OMIM:135750	LMBR1	64327	HP:0001252	Muscular hypotonia
OMIM:135750	LMBR1	64327	HP:0003974	Absent radius
OMIM:135750	LMBR1	64327	HP:0002714	Downturned corners of mouth
OMIM:135750	LMBR1	64327	HP:0003019	Abnormality of the wrist
OMIM:135750	LMBR1	64327	HP:0006101	Finger syndactyly
OMIM:135750	LMBR1	64327	HP:0002992	Abnormality of the tibia
OMIM:135750	LMBR1	64327	HP:0001841	Preaxial foot polydactyly
OMIM:135750	LMBR1	64327	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:135750	LMBR1	64327	HP:0000271	Abnormality of the face
OMIM:135750	LMBR1	64327	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:135750	LMBR1	64327	HP:0001376	Limitation of joint mobility
OMIM:135750	LMBR1	64327	HP:0001161	Hand polydactyly
OMIM:135750	LMBR1	64327	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:135750	LMBR1	64327	HP:0001770	Toe syndactyly
OMIM:135750	LMBR1	64327	HP:0001883	Talipes
OMIM:135750	LMBR1	64327	HP:0001773	Short foot
OMIM:135750	LMBR1	64327	HP:0000430	Underdeveloped nasal alae
OMIM:135750	LMBR1	64327	HP:0000006	Autosomal dominant inheritance
OMIM:135750	LMBR1	64327	HP:0100543	Cognitive impairment
OMIM:135750	LMBR1	64327	HP:0008368	Tarsal synostosis
OMIM:135750	LMBR1	64327	HP:0001163	Abnormality of the metacarpal bones
OMIM:135750	LMBR1	64327	HP:0001159	Syndactyly
OMIM:135750	LMBR1	64327	HP:0001199	Triphalangeal thumb
OMIM:135750	LMBR1	64327	HP:0000028	Cryptorchidism
OMIM:135750	LMBR1	64327	HP:0001177	Preaxial hand polydactyly
OMIM:135750	LMBR1	64327	HP:0006443	Patellar aplasia
OMIM:135750	LMBR1	64327	HP:0000316	Hypertelorism
OMIM:135750	LMBR1	64327	HP:0000238	Hydrocephalus
OMIM:174700	GLI3	2737	HP:0000006	Autosomal dominant inheritance
OMIM:174700	GLI3	2737	HP:0100258	Preaxial polydactyly
OMIM:174700	GLI3	2737	HP:0000363	Abnormality of earlobe
OMIM:107480	SALL1	6299	HP:0002020	Gastroesophageal reflux
OMIM:107480	SALL1	6299	HP:0000581	Blepharophimosis
OMIM:107480	SALL1	6299	HP:0004322	Short stature
OMIM:107480	SALL1	6299	HP:0000365	Hearing impairment
OMIM:107480	SALL1	6299	HP:0000821	Hypothyroidism
OMIM:107480	SALL1	6299	HP:0001537	Umbilical hernia
OMIM:107480	SALL1	6299	HP:0000384	Preauricular skin tag
OMIM:107480	SALL1	6299	HP:0000076	Vesicoureteral reflux
OMIM:107480	SALL1	6299	HP:0002607	Bowel incontinence
OMIM:107480	SALL1	6299	HP:0000089	Renal hypoplasia
OMIM:107480	SALL1	6299	HP:0000028	Cryptorchidism
OMIM:107480	SALL1	6299	HP:0004467	Preauricular pit
OMIM:107480	SALL1	6299	HP:0000048	Bifid scrotum
OMIM:107480	SALL1	6299	HP:0002247	Duodenal atresia
OMIM:107480	SALL1	6299	HP:0009465	Ulnar deviation of finger
OMIM:107480	SALL1	6299	HP:0000324	Facial asymmetry
OMIM:107480	SALL1	6299	HP:0002023	Anal atresia
OMIM:107480	SALL1	6299	HP:0000154	Wide mouth
OMIM:107480	SALL1	6299	HP:0000143	Rectovaginal fistula
OMIM:107480	SALL1	6299	HP:0000006	Autosomal dominant inheritance
OMIM:107480	SALL1	6299	HP:0004209	Clinodactyly of the 5th finger
OMIM:107480	SALL1	6299	HP:0001636	Tetralogy of Fallot
OMIM:107480	SALL1	6299	HP:0100627	Displacement of the external urethral meatus
OMIM:107480	SALL1	6299	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:107480	SALL1	6299	HP:0002019	Constipation
OMIM:107480	SALL1	6299	HP:0000772	Abnormality of the ribs
OMIM:107480	SALL1	6299	HP:0001770	Toe syndactyly
OMIM:107480	SALL1	6299	HP:0000252	Microcephaly
OMIM:107480	SALL1	6299	HP:0008572	External ear malformation
OMIM:107480	SALL1	6299	HP:0000567	Chorioretinal coloboma
OMIM:107480	SALL1	6299	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:107480	SALL1	6299	HP:0002308	Arnold-Chiari malformation
OMIM:107480	SALL1	6299	HP:0008551	Microtia
OMIM:107480	SALL1	6299	HP:0000083	Renal insufficiency
OMIM:107480	SALL1	6299	HP:0000505	Visual impairment
OMIM:107480	SALL1	6299	HP:0100589	Urogenital fistula
OMIM:107480	SALL1	6299	HP:0000518	Cataract
OMIM:107480	SALL1	6299	HP:0000407	Sensorineural hearing impairment
OMIM:107480	SALL1	6299	HP:0001199	Triphalangeal thumb
OMIM:107480	SALL1	6299	HP:0002025	Anal stenosis
OMIM:107480	SALL1	6299	HP:0000003	Multicystic kidney dysplasia
OMIM:107480	SALL1	6299	HP:0001177	Preaxial hand polydactyly
OMIM:107480	SALL1	6299	HP:0001641	Abnormality of the pulmonary valve
OMIM:107480	SALL1	6299	HP:0001643	Patent ductus arteriosus
OMIM:107480	SALL1	6299	HP:0001629	Ventricular septal defect
OMIM:107480	SALL1	6299	HP:0000486	Strabismus
OMIM:107480	SALL1	6299	HP:0100543	Cognitive impairment
OMIM:107480	SALL1	6299	HP:0009921	Duane anomaly
OMIM:107480	SALL1	6299	HP:0001249	Intellectual disability
OMIM:107480	SALL1	6299	HP:0000110	Renal dysplasia
OMIM:107480	SALL1	6299	HP:0001440	Metatarsal synostosis
OMIM:107480	SALL1	6299	HP:0000612	Iris coloboma
OMIM:107480	SALL1	6299	HP:0000400	Macrotia
OMIM:107480	SALL1	6299	HP:0011304	Broad thumb
OMIM:107480	SALL1	6299	HP:0004691	2-3 toe syndactyly
OMIM:107480	SALL1	6299	HP:0006824	Cranial nerve paralysis
OMIM:107480	SALL1	6299	HP:0000142	Abnormality of the vagina
OMIM:107480	SALL1	6299	HP:0001841	Preaxial foot polydactyly
OMIM:107480	SALL1	6299	HP:0001763	Pes planus
OMIM:107480	SALL1	6299	HP:0008736	Hypoplasia of penis
OMIM:107480	SALL1	6299	HP:0000047	Hypospadias
OMIM:107480	SALL1	6299	HP:0100542	Abnormal localization of kidney
OMIM:107480	SALL1	6299	HP:0010743	Short metatarsal
OMIM:107480	SALL1	6299	HP:0001631	Atria septal defect
OMIM:601665	MC4R	4160	HP:0001513	Obesity
OMIM:601665	MC4R	4160	HP:0010982	Polygenic inheritance
OMIM:601665	PPARG	5468	HP:0001513	Obesity
OMIM:601665	PPARG	5468	HP:0010982	Polygenic inheritance
OMIM:601665	SIM1	6492	HP:0001513	Obesity
OMIM:601665	SIM1	6492	HP:0010982	Polygenic inheritance
OMIM:601665	NR0B2	8431	HP:0001513	Obesity
OMIM:601665	NR0B2	8431	HP:0010982	Polygenic inheritance
OMIM:125700	AVP	551	HP:0000343	Long philtrum
OMIM:125700	AVP	551	HP:0000445	Wide nose
OMIM:125700	AVP	551	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:125700	AVP	551	HP:0003196	Short nose
OMIM:125700	AVP	551	HP:0000006	Autosomal dominant inheritance
OMIM:125700	AVP	551	HP:0002171	Gliosis
OMIM:125700	AVP	551	HP:0000316	Hypertelorism
OMIM:125700	AVP	551	HP:0000938	Osteopenia
ORPHANET:3220	PEX1	5189	HP:0000786	Primary amenorrhea
ORPHANET:3220	PEX1	5189	HP:0000956	Acanthosis nigricans
ORPHANET:3220	PEX1	5189	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:3220	PEX1	5189	HP:0000682	Abnormality of dental enamel
ORPHANET:3220	PEX1	5189	HP:0000311	Round face
ORPHANET:3220	PEX1	5189	HP:0001231	Abnormality of the fingernails
ORPHANET:3220	PEX1	5189	HP:0008388	Abnormality of the toenails
ORPHANET:3220	PEX1	5189	HP:0011675	Arrhythmia
ORPHANET:3220	PEX1	5189	HP:0008064	Ichthyosis
ORPHANET:3220	PEX1	5189	HP:0003777	Pili torti
ORPHANET:3220	PEX1	5189	HP:0009830	Peripheral neuropathy
ORPHANET:3220	PEX1	5189	HP:0000407	Sensorineural hearing impairment
ORPHANET:3220	PEX1	5189	HP:0004322	Short stature
ORPHANET:3220	PEX1	5189	HP:0001324	Muscle weakness
ORPHANET:3220	PEX1	5189	HP:0000478	Abnormality of the eye
ORPHANET:3220	PEX1	5189	HP:0001176	Large hands
ORPHANET:3220	PEX1	5189	HP:0100490	Camptodactyly of finger
ORPHANET:3220	PEX1	5189	HP:0009890	High anterior hairline
ORPHANET:3220	PEX1	5189	HP:0000819	Diabetes mellitus
ORPHANET:3220	PEX1	5189	HP:0002514	Cerebral calcification
ORPHANET:3220	PEX1	5189	HP:0001315	Reduced tendon reflexes
ORPHANET:3220	PEX1	5189	HP:0000679	Taurodontia
ORPHANET:3220	PEX1	5189	HP:0011362	Abnormal hair quantity
ORPHANET:3220	PEX1	5189	HP:0100543	Cognitive impairment
ORPHANET:3220	PEX1	5189	HP:0002750	Delayed skeletal maturation
ORPHANET:3220	PEX6	5190	HP:0000786	Primary amenorrhea
ORPHANET:3220	PEX6	5190	HP:0000956	Acanthosis nigricans
ORPHANET:3220	PEX6	5190	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:3220	PEX6	5190	HP:0000682	Abnormality of dental enamel
ORPHANET:3220	PEX6	5190	HP:0000311	Round face
ORPHANET:3220	PEX6	5190	HP:0001231	Abnormality of the fingernails
ORPHANET:3220	PEX6	5190	HP:0008388	Abnormality of the toenails
ORPHANET:3220	PEX6	5190	HP:0011675	Arrhythmia
ORPHANET:3220	PEX6	5190	HP:0008064	Ichthyosis
ORPHANET:3220	PEX6	5190	HP:0003777	Pili torti
ORPHANET:3220	PEX6	5190	HP:0009830	Peripheral neuropathy
ORPHANET:3220	PEX6	5190	HP:0000407	Sensorineural hearing impairment
ORPHANET:3220	PEX6	5190	HP:0004322	Short stature
ORPHANET:3220	PEX6	5190	HP:0001324	Muscle weakness
ORPHANET:3220	PEX6	5190	HP:0000478	Abnormality of the eye
ORPHANET:3220	PEX6	5190	HP:0001176	Large hands
ORPHANET:3220	PEX6	5190	HP:0100490	Camptodactyly of finger
ORPHANET:3220	PEX6	5190	HP:0009890	High anterior hairline
ORPHANET:3220	PEX6	5190	HP:0000819	Diabetes mellitus
ORPHANET:3220	PEX6	5190	HP:0002514	Cerebral calcification
ORPHANET:3220	PEX6	5190	HP:0001315	Reduced tendon reflexes
ORPHANET:3220	PEX6	5190	HP:0000679	Taurodontia
ORPHANET:3220	PEX6	5190	HP:0011362	Abnormal hair quantity
ORPHANET:3220	PEX6	5190	HP:0100543	Cognitive impairment
ORPHANET:3220	PEX6	5190	HP:0002750	Delayed skeletal maturation
OMIM:616311	DPP6	1804	HP:0000252	Microcephaly
OMIM:616311	DPP6	1804	HP:0007018	Attention deficit hyperactivity disorder
OMIM:616311	DPP6	1804	HP:0004322	Short stature
OMIM:616311	DPP6	1804	HP:0002750	Delayed skeletal maturation
OMIM:616311	DPP6	1804	HP:0000646	Amblyopia
OMIM:616311	DPP6	1804	HP:0001249	Intellectual disability
OMIM:616311	DPP6	1804	HP:0000006	Autosomal dominant inheritance
OMIM:616311	DPP6	1804	HP:0004325	Decreased body weight
OMIM:616311	DPP6	1804	HP:0200065	Chorioretinal degeneration
OMIM:616311	DPP6	1804	HP:0002650	Scoliosis
OMIM:256000	SLC19A3	80704	HP:0003128	Lactic acidosis
OMIM:256000	SLC19A3	80704	HP:0002093	Respiratory insufficiency
OMIM:256000	SLC19A3	80704	HP:0000597	Ophthalmoparesis
OMIM:256000	SLC19A3	80704	HP:0001427	Mitochondrial inheritance
OMIM:256000	SLC19A3	80704	HP:0001425	Heterogeneous
OMIM:256000	SLC19A3	80704	HP:0000712	Emotional lability
OMIM:256000	SLC19A3	80704	HP:0003676	Progressive
OMIM:256000	SLC19A3	80704	HP:0001249	Intellectual disability
OMIM:256000	SLC19A3	80704	HP:0001332	Dystonia
OMIM:256000	SLC19A3	80704	HP:0002311	Incoordination
OMIM:256000	SLC19A3	80704	HP:0100543	Cognitive impairment
OMIM:256000	SLC19A3	80704	HP:0001250	Seizures
OMIM:256000	SLC19A3	80704	HP:0000580	Pigmentary retinopathy
OMIM:256000	SLC19A3	80704	HP:0000639	Nystagmus
OMIM:256000	SLC19A3	80704	HP:0000508	Ptosis
OMIM:256000	SLC19A3	80704	HP:0001508	Failure to thrive
OMIM:256000	SLC19A3	80704	HP:0003593	Infantile onset
OMIM:256000	SLC19A3	80704	HP:0002171	Gliosis
OMIM:256000	SLC19A3	80704	HP:0002793	Abnormal pattern of respiration
OMIM:256000	SLC19A3	80704	HP:0000407	Sensorineural hearing impairment
OMIM:256000	SLC19A3	80704	HP:0000486	Strabismus
OMIM:256000	SLC19A3	80704	HP:0002490	Increased CSF lactate
OMIM:256000	SLC19A3	80704	HP:0001347	Hyperreflexia
OMIM:256000	SLC19A3	80704	HP:0007305	CNS demyelination
OMIM:256000	SLC19A3	80704	HP:0000998	Hypertrichosis
OMIM:256000	SLC19A3	80704	HP:0100022	Abnormality of movement
OMIM:256000	SLC19A3	80704	HP:0001252	Muscular hypotonia
OMIM:256000	SLC19A3	80704	HP:0001260	Dysarthria
OMIM:256000	SLC19A3	80704	HP:0001404	Hepatocellular necrosis
OMIM:256000	SLC19A3	80704	HP:0000602	Ophthalmoplegia
OMIM:256000	SLC19A3	80704	HP:0003812	Phenotypic variability
OMIM:256000	SLC19A3	80704	HP:0000007	Autosomal recessive inheritance
OMIM:256000	SLC19A3	80704	HP:0001251	Ataxia
OMIM:256000	SLC19A3	80704	HP:0000648	Optic atrophy
OMIM:256000	SLC19A3	80704	HP:0001257	Spasticity
OMIM:256000	SLC19A3	80704	HP:0001263	Global developmental delay
OMIM:256000	SLC19A3	80704	HP:0002151	Increased serum lactate
OMIM:256000	SLC19A3	80704	HP:0002878	Respiratory failure
OMIM:256000	TACO1	51204	HP:0003128	Lactic acidosis
OMIM:256000	TACO1	51204	HP:0002093	Respiratory insufficiency
OMIM:256000	TACO1	51204	HP:0000597	Ophthalmoparesis
OMIM:256000	TACO1	51204	HP:0001427	Mitochondrial inheritance
OMIM:256000	TACO1	51204	HP:0001425	Heterogeneous
OMIM:256000	TACO1	51204	HP:0000712	Emotional lability
OMIM:256000	TACO1	51204	HP:0003676	Progressive
OMIM:256000	TACO1	51204	HP:0001249	Intellectual disability
OMIM:256000	TACO1	51204	HP:0001332	Dystonia
OMIM:256000	TACO1	51204	HP:0002311	Incoordination
OMIM:256000	TACO1	51204	HP:0100543	Cognitive impairment
OMIM:256000	TACO1	51204	HP:0001250	Seizures
OMIM:256000	TACO1	51204	HP:0000580	Pigmentary retinopathy
OMIM:256000	TACO1	51204	HP:0000639	Nystagmus
OMIM:256000	TACO1	51204	HP:0000508	Ptosis
OMIM:256000	TACO1	51204	HP:0001508	Failure to thrive
OMIM:256000	TACO1	51204	HP:0003593	Infantile onset
OMIM:256000	TACO1	51204	HP:0002171	Gliosis
OMIM:256000	TACO1	51204	HP:0002793	Abnormal pattern of respiration
OMIM:256000	TACO1	51204	HP:0000407	Sensorineural hearing impairment
OMIM:256000	TACO1	51204	HP:0000486	Strabismus
OMIM:256000	TACO1	51204	HP:0002490	Increased CSF lactate
OMIM:256000	TACO1	51204	HP:0001347	Hyperreflexia
OMIM:256000	TACO1	51204	HP:0007305	CNS demyelination
OMIM:256000	TACO1	51204	HP:0000998	Hypertrichosis
OMIM:256000	TACO1	51204	HP:0100022	Abnormality of movement
OMIM:256000	TACO1	51204	HP:0001252	Muscular hypotonia
OMIM:256000	TACO1	51204	HP:0001260	Dysarthria
OMIM:256000	TACO1	51204	HP:0001404	Hepatocellular necrosis
OMIM:256000	TACO1	51204	HP:0000602	Ophthalmoplegia
OMIM:256000	TACO1	51204	HP:0003812	Phenotypic variability
OMIM:256000	TACO1	51204	HP:0000007	Autosomal recessive inheritance
OMIM:256000	TACO1	51204	HP:0001251	Ataxia
OMIM:256000	TACO1	51204	HP:0000648	Optic atrophy
OMIM:256000	TACO1	51204	HP:0001257	Spasticity
OMIM:256000	TACO1	51204	HP:0001263	Global developmental delay
OMIM:256000	TACO1	51204	HP:0002151	Increased serum lactate
OMIM:256000	TACO1	51204	HP:0002878	Respiratory failure
OMIM:256000	COX10	1352	HP:0003128	Lactic acidosis
OMIM:256000	COX10	1352	HP:0002093	Respiratory insufficiency
OMIM:256000	COX10	1352	HP:0000597	Ophthalmoparesis
OMIM:256000	COX10	1352	HP:0001427	Mitochondrial inheritance
OMIM:256000	COX10	1352	HP:0001425	Heterogeneous
OMIM:256000	COX10	1352	HP:0000712	Emotional lability
OMIM:256000	COX10	1352	HP:0003676	Progressive
OMIM:256000	COX10	1352	HP:0001249	Intellectual disability
OMIM:256000	COX10	1352	HP:0001332	Dystonia
OMIM:256000	COX10	1352	HP:0002311	Incoordination
OMIM:256000	COX10	1352	HP:0100543	Cognitive impairment
OMIM:256000	COX10	1352	HP:0001250	Seizures
OMIM:256000	COX10	1352	HP:0000580	Pigmentary retinopathy
OMIM:256000	COX10	1352	HP:0000639	Nystagmus
OMIM:256000	COX10	1352	HP:0000508	Ptosis
OMIM:256000	COX10	1352	HP:0001508	Failure to thrive
OMIM:256000	COX10	1352	HP:0003593	Infantile onset
OMIM:256000	COX10	1352	HP:0002171	Gliosis
OMIM:256000	COX10	1352	HP:0002793	Abnormal pattern of respiration
OMIM:256000	COX10	1352	HP:0000407	Sensorineural hearing impairment
OMIM:256000	COX10	1352	HP:0000486	Strabismus
OMIM:256000	COX10	1352	HP:0002490	Increased CSF lactate
OMIM:256000	COX10	1352	HP:0001347	Hyperreflexia
OMIM:256000	COX10	1352	HP:0007305	CNS demyelination
OMIM:256000	COX10	1352	HP:0000998	Hypertrichosis
OMIM:256000	COX10	1352	HP:0100022	Abnormality of movement
OMIM:256000	COX10	1352	HP:0001252	Muscular hypotonia
OMIM:256000	COX10	1352	HP:0001260	Dysarthria
OMIM:256000	COX10	1352	HP:0001404	Hepatocellular necrosis
OMIM:256000	COX10	1352	HP:0000602	Ophthalmoplegia
OMIM:256000	COX10	1352	HP:0003812	Phenotypic variability
OMIM:256000	COX10	1352	HP:0000007	Autosomal recessive inheritance
OMIM:256000	COX10	1352	HP:0001251	Ataxia
OMIM:256000	COX10	1352	HP:0000648	Optic atrophy
OMIM:256000	COX10	1352	HP:0001257	Spasticity
OMIM:256000	COX10	1352	HP:0001263	Global developmental delay
OMIM:256000	COX10	1352	HP:0002151	Increased serum lactate
OMIM:256000	COX10	1352	HP:0002878	Respiratory failure
OMIM:256000	COX15	1355	HP:0003128	Lactic acidosis
OMIM:256000	COX15	1355	HP:0002093	Respiratory insufficiency
OMIM:256000	COX15	1355	HP:0000597	Ophthalmoparesis
OMIM:256000	COX15	1355	HP:0001427	Mitochondrial inheritance
OMIM:256000	COX15	1355	HP:0001425	Heterogeneous
OMIM:256000	COX15	1355	HP:0000712	Emotional lability
OMIM:256000	COX15	1355	HP:0003676	Progressive
OMIM:256000	COX15	1355	HP:0001249	Intellectual disability
OMIM:256000	COX15	1355	HP:0001332	Dystonia
OMIM:256000	COX15	1355	HP:0002311	Incoordination
OMIM:256000	COX15	1355	HP:0100543	Cognitive impairment
OMIM:256000	COX15	1355	HP:0001250	Seizures
OMIM:256000	COX15	1355	HP:0000580	Pigmentary retinopathy
OMIM:256000	COX15	1355	HP:0000639	Nystagmus
OMIM:256000	COX15	1355	HP:0000508	Ptosis
OMIM:256000	COX15	1355	HP:0001508	Failure to thrive
OMIM:256000	COX15	1355	HP:0003593	Infantile onset
OMIM:256000	COX15	1355	HP:0002171	Gliosis
OMIM:256000	COX15	1355	HP:0002793	Abnormal pattern of respiration
OMIM:256000	COX15	1355	HP:0000407	Sensorineural hearing impairment
OMIM:256000	COX15	1355	HP:0000486	Strabismus
OMIM:256000	COX15	1355	HP:0002490	Increased CSF lactate
OMIM:256000	COX15	1355	HP:0001347	Hyperreflexia
OMIM:256000	COX15	1355	HP:0007305	CNS demyelination
OMIM:256000	COX15	1355	HP:0000998	Hypertrichosis
OMIM:256000	COX15	1355	HP:0100022	Abnormality of movement
OMIM:256000	COX15	1355	HP:0001252	Muscular hypotonia
OMIM:256000	COX15	1355	HP:0001260	Dysarthria
OMIM:256000	COX15	1355	HP:0001404	Hepatocellular necrosis
OMIM:256000	COX15	1355	HP:0000602	Ophthalmoplegia
OMIM:256000	COX15	1355	HP:0003812	Phenotypic variability
OMIM:256000	COX15	1355	HP:0000007	Autosomal recessive inheritance
OMIM:256000	COX15	1355	HP:0001251	Ataxia
OMIM:256000	COX15	1355	HP:0000648	Optic atrophy
OMIM:256000	COX15	1355	HP:0001257	Spasticity
OMIM:256000	COX15	1355	HP:0001263	Global developmental delay
OMIM:256000	COX15	1355	HP:0002151	Increased serum lactate
OMIM:256000	COX15	1355	HP:0002878	Respiratory failure
OMIM:256000	SCO2	9997	HP:0003128	Lactic acidosis
OMIM:256000	SCO2	9997	HP:0002093	Respiratory insufficiency
OMIM:256000	SCO2	9997	HP:0000597	Ophthalmoparesis
OMIM:256000	SCO2	9997	HP:0001427	Mitochondrial inheritance
OMIM:256000	SCO2	9997	HP:0001425	Heterogeneous
OMIM:256000	SCO2	9997	HP:0000712	Emotional lability
OMIM:256000	SCO2	9997	HP:0003676	Progressive
OMIM:256000	SCO2	9997	HP:0001249	Intellectual disability
OMIM:256000	SCO2	9997	HP:0001332	Dystonia
OMIM:256000	SCO2	9997	HP:0002311	Incoordination
OMIM:256000	SCO2	9997	HP:0100543	Cognitive impairment
OMIM:256000	SCO2	9997	HP:0001250	Seizures
OMIM:256000	SCO2	9997	HP:0000580	Pigmentary retinopathy
OMIM:256000	SCO2	9997	HP:0000639	Nystagmus
OMIM:256000	SCO2	9997	HP:0000508	Ptosis
OMIM:256000	SCO2	9997	HP:0001508	Failure to thrive
OMIM:256000	SCO2	9997	HP:0003593	Infantile onset
OMIM:256000	SCO2	9997	HP:0002171	Gliosis
OMIM:256000	SCO2	9997	HP:0002793	Abnormal pattern of respiration
OMIM:256000	SCO2	9997	HP:0000407	Sensorineural hearing impairment
OMIM:256000	SCO2	9997	HP:0000486	Strabismus
OMIM:256000	SCO2	9997	HP:0002490	Increased CSF lactate
OMIM:256000	SCO2	9997	HP:0001347	Hyperreflexia
OMIM:256000	SCO2	9997	HP:0007305	CNS demyelination
OMIM:256000	SCO2	9997	HP:0000998	Hypertrichosis
OMIM:256000	SCO2	9997	HP:0100022	Abnormality of movement
OMIM:256000	SCO2	9997	HP:0001252	Muscular hypotonia
OMIM:256000	SCO2	9997	HP:0001260	Dysarthria
OMIM:256000	SCO2	9997	HP:0001404	Hepatocellular necrosis
OMIM:256000	SCO2	9997	HP:0000602	Ophthalmoplegia
OMIM:256000	SCO2	9997	HP:0003812	Phenotypic variability
OMIM:256000	SCO2	9997	HP:0000007	Autosomal recessive inheritance
OMIM:256000	SCO2	9997	HP:0001251	Ataxia
OMIM:256000	SCO2	9997	HP:0000648	Optic atrophy
OMIM:256000	SCO2	9997	HP:0001257	Spasticity
OMIM:256000	SCO2	9997	HP:0001263	Global developmental delay
OMIM:256000	SCO2	9997	HP:0002151	Increased serum lactate
OMIM:256000	SCO2	9997	HP:0002878	Respiratory failure
OMIM:256000	NDUFAF6	137682	HP:0003128	Lactic acidosis
OMIM:256000	NDUFAF6	137682	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFAF6	137682	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFAF6	137682	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFAF6	137682	HP:0001425	Heterogeneous
OMIM:256000	NDUFAF6	137682	HP:0000712	Emotional lability
OMIM:256000	NDUFAF6	137682	HP:0003676	Progressive
OMIM:256000	NDUFAF6	137682	HP:0001249	Intellectual disability
OMIM:256000	NDUFAF6	137682	HP:0001332	Dystonia
OMIM:256000	NDUFAF6	137682	HP:0002311	Incoordination
OMIM:256000	NDUFAF6	137682	HP:0100543	Cognitive impairment
OMIM:256000	NDUFAF6	137682	HP:0001250	Seizures
OMIM:256000	NDUFAF6	137682	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFAF6	137682	HP:0000639	Nystagmus
OMIM:256000	NDUFAF6	137682	HP:0000508	Ptosis
OMIM:256000	NDUFAF6	137682	HP:0001508	Failure to thrive
OMIM:256000	NDUFAF6	137682	HP:0003593	Infantile onset
OMIM:256000	NDUFAF6	137682	HP:0002171	Gliosis
OMIM:256000	NDUFAF6	137682	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFAF6	137682	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFAF6	137682	HP:0000486	Strabismus
OMIM:256000	NDUFAF6	137682	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFAF6	137682	HP:0001347	Hyperreflexia
OMIM:256000	NDUFAF6	137682	HP:0007305	CNS demyelination
OMIM:256000	NDUFAF6	137682	HP:0000998	Hypertrichosis
OMIM:256000	NDUFAF6	137682	HP:0100022	Abnormality of movement
OMIM:256000	NDUFAF6	137682	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFAF6	137682	HP:0001260	Dysarthria
OMIM:256000	NDUFAF6	137682	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFAF6	137682	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFAF6	137682	HP:0003812	Phenotypic variability
OMIM:256000	NDUFAF6	137682	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFAF6	137682	HP:0001251	Ataxia
OMIM:256000	NDUFAF6	137682	HP:0000648	Optic atrophy
OMIM:256000	NDUFAF6	137682	HP:0001257	Spasticity
OMIM:256000	NDUFAF6	137682	HP:0001263	Global developmental delay
OMIM:256000	NDUFAF6	137682	HP:0002151	Increased serum lactate
OMIM:256000	NDUFAF6	137682	HP:0002878	Respiratory failure
OMIM:256000	LIPT1	51601	HP:0003128	Lactic acidosis
OMIM:256000	LIPT1	51601	HP:0002093	Respiratory insufficiency
OMIM:256000	LIPT1	51601	HP:0000597	Ophthalmoparesis
OMIM:256000	LIPT1	51601	HP:0001427	Mitochondrial inheritance
OMIM:256000	LIPT1	51601	HP:0001425	Heterogeneous
OMIM:256000	LIPT1	51601	HP:0000712	Emotional lability
OMIM:256000	LIPT1	51601	HP:0003676	Progressive
OMIM:256000	LIPT1	51601	HP:0001249	Intellectual disability
OMIM:256000	LIPT1	51601	HP:0001332	Dystonia
OMIM:256000	LIPT1	51601	HP:0002311	Incoordination
OMIM:256000	LIPT1	51601	HP:0100543	Cognitive impairment
OMIM:256000	LIPT1	51601	HP:0001250	Seizures
OMIM:256000	LIPT1	51601	HP:0000580	Pigmentary retinopathy
OMIM:256000	LIPT1	51601	HP:0000639	Nystagmus
OMIM:256000	LIPT1	51601	HP:0000508	Ptosis
OMIM:256000	LIPT1	51601	HP:0001508	Failure to thrive
OMIM:256000	LIPT1	51601	HP:0003593	Infantile onset
OMIM:256000	LIPT1	51601	HP:0002171	Gliosis
OMIM:256000	LIPT1	51601	HP:0002793	Abnormal pattern of respiration
OMIM:256000	LIPT1	51601	HP:0000407	Sensorineural hearing impairment
OMIM:256000	LIPT1	51601	HP:0000486	Strabismus
OMIM:256000	LIPT1	51601	HP:0002490	Increased CSF lactate
OMIM:256000	LIPT1	51601	HP:0001347	Hyperreflexia
OMIM:256000	LIPT1	51601	HP:0007305	CNS demyelination
OMIM:256000	LIPT1	51601	HP:0000998	Hypertrichosis
OMIM:256000	LIPT1	51601	HP:0100022	Abnormality of movement
OMIM:256000	LIPT1	51601	HP:0001252	Muscular hypotonia
OMIM:256000	LIPT1	51601	HP:0001260	Dysarthria
OMIM:256000	LIPT1	51601	HP:0001404	Hepatocellular necrosis
OMIM:256000	LIPT1	51601	HP:0000602	Ophthalmoplegia
OMIM:256000	LIPT1	51601	HP:0003812	Phenotypic variability
OMIM:256000	LIPT1	51601	HP:0000007	Autosomal recessive inheritance
OMIM:256000	LIPT1	51601	HP:0001251	Ataxia
OMIM:256000	LIPT1	51601	HP:0000648	Optic atrophy
OMIM:256000	LIPT1	51601	HP:0001257	Spasticity
OMIM:256000	LIPT1	51601	HP:0001263	Global developmental delay
OMIM:256000	LIPT1	51601	HP:0002151	Increased serum lactate
OMIM:256000	LIPT1	51601	HP:0002878	Respiratory failure
OMIM:256000	FOXRED1	55572	HP:0003128	Lactic acidosis
OMIM:256000	FOXRED1	55572	HP:0002093	Respiratory insufficiency
OMIM:256000	FOXRED1	55572	HP:0000597	Ophthalmoparesis
OMIM:256000	FOXRED1	55572	HP:0001427	Mitochondrial inheritance
OMIM:256000	FOXRED1	55572	HP:0001425	Heterogeneous
OMIM:256000	FOXRED1	55572	HP:0000712	Emotional lability
OMIM:256000	FOXRED1	55572	HP:0003676	Progressive
OMIM:256000	FOXRED1	55572	HP:0001249	Intellectual disability
OMIM:256000	FOXRED1	55572	HP:0001332	Dystonia
OMIM:256000	FOXRED1	55572	HP:0002311	Incoordination
OMIM:256000	FOXRED1	55572	HP:0100543	Cognitive impairment
OMIM:256000	FOXRED1	55572	HP:0001250	Seizures
OMIM:256000	FOXRED1	55572	HP:0000580	Pigmentary retinopathy
OMIM:256000	FOXRED1	55572	HP:0000639	Nystagmus
OMIM:256000	FOXRED1	55572	HP:0000508	Ptosis
OMIM:256000	FOXRED1	55572	HP:0001508	Failure to thrive
OMIM:256000	FOXRED1	55572	HP:0003593	Infantile onset
OMIM:256000	FOXRED1	55572	HP:0002171	Gliosis
OMIM:256000	FOXRED1	55572	HP:0002793	Abnormal pattern of respiration
OMIM:256000	FOXRED1	55572	HP:0000407	Sensorineural hearing impairment
OMIM:256000	FOXRED1	55572	HP:0000486	Strabismus
OMIM:256000	FOXRED1	55572	HP:0002490	Increased CSF lactate
OMIM:256000	FOXRED1	55572	HP:0001347	Hyperreflexia
OMIM:256000	FOXRED1	55572	HP:0007305	CNS demyelination
OMIM:256000	FOXRED1	55572	HP:0000998	Hypertrichosis
OMIM:256000	FOXRED1	55572	HP:0100022	Abnormality of movement
OMIM:256000	FOXRED1	55572	HP:0001252	Muscular hypotonia
OMIM:256000	FOXRED1	55572	HP:0001260	Dysarthria
OMIM:256000	FOXRED1	55572	HP:0001404	Hepatocellular necrosis
OMIM:256000	FOXRED1	55572	HP:0000602	Ophthalmoplegia
OMIM:256000	FOXRED1	55572	HP:0003812	Phenotypic variability
OMIM:256000	FOXRED1	55572	HP:0000007	Autosomal recessive inheritance
OMIM:256000	FOXRED1	55572	HP:0001251	Ataxia
OMIM:256000	FOXRED1	55572	HP:0000648	Optic atrophy
OMIM:256000	FOXRED1	55572	HP:0001257	Spasticity
OMIM:256000	FOXRED1	55572	HP:0001263	Global developmental delay
OMIM:256000	FOXRED1	55572	HP:0002151	Increased serum lactate
OMIM:256000	FOXRED1	55572	HP:0002878	Respiratory failure
OMIM:256000	NDUFS7	374291	HP:0003128	Lactic acidosis
OMIM:256000	NDUFS7	374291	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFS7	374291	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFS7	374291	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFS7	374291	HP:0001425	Heterogeneous
OMIM:256000	NDUFS7	374291	HP:0000712	Emotional lability
OMIM:256000	NDUFS7	374291	HP:0003676	Progressive
OMIM:256000	NDUFS7	374291	HP:0001249	Intellectual disability
OMIM:256000	NDUFS7	374291	HP:0001332	Dystonia
OMIM:256000	NDUFS7	374291	HP:0002311	Incoordination
OMIM:256000	NDUFS7	374291	HP:0100543	Cognitive impairment
OMIM:256000	NDUFS7	374291	HP:0001250	Seizures
OMIM:256000	NDUFS7	374291	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFS7	374291	HP:0000639	Nystagmus
OMIM:256000	NDUFS7	374291	HP:0000508	Ptosis
OMIM:256000	NDUFS7	374291	HP:0001508	Failure to thrive
OMIM:256000	NDUFS7	374291	HP:0003593	Infantile onset
OMIM:256000	NDUFS7	374291	HP:0002171	Gliosis
OMIM:256000	NDUFS7	374291	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFS7	374291	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFS7	374291	HP:0000486	Strabismus
OMIM:256000	NDUFS7	374291	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFS7	374291	HP:0001347	Hyperreflexia
OMIM:256000	NDUFS7	374291	HP:0007305	CNS demyelination
OMIM:256000	NDUFS7	374291	HP:0000998	Hypertrichosis
OMIM:256000	NDUFS7	374291	HP:0100022	Abnormality of movement
OMIM:256000	NDUFS7	374291	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFS7	374291	HP:0001260	Dysarthria
OMIM:256000	NDUFS7	374291	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFS7	374291	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFS7	374291	HP:0003812	Phenotypic variability
OMIM:256000	NDUFS7	374291	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFS7	374291	HP:0001251	Ataxia
OMIM:256000	NDUFS7	374291	HP:0000648	Optic atrophy
OMIM:256000	NDUFS7	374291	HP:0001257	Spasticity
OMIM:256000	NDUFS7	374291	HP:0001263	Global developmental delay
OMIM:256000	NDUFS7	374291	HP:0002151	Increased serum lactate
OMIM:256000	NDUFS7	374291	HP:0002878	Respiratory failure
OMIM:256000	TRNK	4566	HP:0003128	Lactic acidosis
OMIM:256000	TRNK	4566	HP:0002093	Respiratory insufficiency
OMIM:256000	TRNK	4566	HP:0000597	Ophthalmoparesis
OMIM:256000	TRNK	4566	HP:0001427	Mitochondrial inheritance
OMIM:256000	TRNK	4566	HP:0001425	Heterogeneous
OMIM:256000	TRNK	4566	HP:0000712	Emotional lability
OMIM:256000	TRNK	4566	HP:0003676	Progressive
OMIM:256000	TRNK	4566	HP:0001249	Intellectual disability
OMIM:256000	TRNK	4566	HP:0001332	Dystonia
OMIM:256000	TRNK	4566	HP:0002311	Incoordination
OMIM:256000	TRNK	4566	HP:0100543	Cognitive impairment
OMIM:256000	TRNK	4566	HP:0001250	Seizures
OMIM:256000	TRNK	4566	HP:0000580	Pigmentary retinopathy
OMIM:256000	TRNK	4566	HP:0000639	Nystagmus
OMIM:256000	TRNK	4566	HP:0000508	Ptosis
OMIM:256000	TRNK	4566	HP:0001508	Failure to thrive
OMIM:256000	TRNK	4566	HP:0003593	Infantile onset
OMIM:256000	TRNK	4566	HP:0002171	Gliosis
OMIM:256000	TRNK	4566	HP:0002793	Abnormal pattern of respiration
OMIM:256000	TRNK	4566	HP:0000407	Sensorineural hearing impairment
OMIM:256000	TRNK	4566	HP:0000486	Strabismus
OMIM:256000	TRNK	4566	HP:0002490	Increased CSF lactate
OMIM:256000	TRNK	4566	HP:0001347	Hyperreflexia
OMIM:256000	TRNK	4566	HP:0007305	CNS demyelination
OMIM:256000	TRNK	4566	HP:0000998	Hypertrichosis
OMIM:256000	TRNK	4566	HP:0100022	Abnormality of movement
OMIM:256000	TRNK	4566	HP:0001252	Muscular hypotonia
OMIM:256000	TRNK	4566	HP:0001260	Dysarthria
OMIM:256000	TRNK	4566	HP:0001404	Hepatocellular necrosis
OMIM:256000	TRNK	4566	HP:0000602	Ophthalmoplegia
OMIM:256000	TRNK	4566	HP:0003812	Phenotypic variability
OMIM:256000	TRNK	4566	HP:0000007	Autosomal recessive inheritance
OMIM:256000	TRNK	4566	HP:0001251	Ataxia
OMIM:256000	TRNK	4566	HP:0000648	Optic atrophy
OMIM:256000	TRNK	4566	HP:0001257	Spasticity
OMIM:256000	TRNK	4566	HP:0001263	Global developmental delay
OMIM:256000	TRNK	4566	HP:0002151	Increased serum lactate
OMIM:256000	TRNK	4566	HP:0002878	Respiratory failure
OMIM:256000	NDUFA2	4695	HP:0003128	Lactic acidosis
OMIM:256000	NDUFA2	4695	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFA2	4695	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFA2	4695	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFA2	4695	HP:0001425	Heterogeneous
OMIM:256000	NDUFA2	4695	HP:0000712	Emotional lability
OMIM:256000	NDUFA2	4695	HP:0003676	Progressive
OMIM:256000	NDUFA2	4695	HP:0001249	Intellectual disability
OMIM:256000	NDUFA2	4695	HP:0001332	Dystonia
OMIM:256000	NDUFA2	4695	HP:0002311	Incoordination
OMIM:256000	NDUFA2	4695	HP:0100543	Cognitive impairment
OMIM:256000	NDUFA2	4695	HP:0001250	Seizures
OMIM:256000	NDUFA2	4695	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFA2	4695	HP:0000639	Nystagmus
OMIM:256000	NDUFA2	4695	HP:0000508	Ptosis
OMIM:256000	NDUFA2	4695	HP:0001508	Failure to thrive
OMIM:256000	NDUFA2	4695	HP:0003593	Infantile onset
OMIM:256000	NDUFA2	4695	HP:0002171	Gliosis
OMIM:256000	NDUFA2	4695	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFA2	4695	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFA2	4695	HP:0000486	Strabismus
OMIM:256000	NDUFA2	4695	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFA2	4695	HP:0001347	Hyperreflexia
OMIM:256000	NDUFA2	4695	HP:0007305	CNS demyelination
OMIM:256000	NDUFA2	4695	HP:0000998	Hypertrichosis
OMIM:256000	NDUFA2	4695	HP:0100022	Abnormality of movement
OMIM:256000	NDUFA2	4695	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFA2	4695	HP:0001260	Dysarthria
OMIM:256000	NDUFA2	4695	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFA2	4695	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFA2	4695	HP:0003812	Phenotypic variability
OMIM:256000	NDUFA2	4695	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFA2	4695	HP:0001251	Ataxia
OMIM:256000	NDUFA2	4695	HP:0000648	Optic atrophy
OMIM:256000	NDUFA2	4695	HP:0001257	Spasticity
OMIM:256000	NDUFA2	4695	HP:0001263	Global developmental delay
OMIM:256000	NDUFA2	4695	HP:0002151	Increased serum lactate
OMIM:256000	NDUFA2	4695	HP:0002878	Respiratory failure
OMIM:256000	TRNL1	4567	HP:0003128	Lactic acidosis
OMIM:256000	TRNL1	4567	HP:0002093	Respiratory insufficiency
OMIM:256000	TRNL1	4567	HP:0000597	Ophthalmoparesis
OMIM:256000	TRNL1	4567	HP:0001427	Mitochondrial inheritance
OMIM:256000	TRNL1	4567	HP:0001425	Heterogeneous
OMIM:256000	TRNL1	4567	HP:0000712	Emotional lability
OMIM:256000	TRNL1	4567	HP:0003676	Progressive
OMIM:256000	TRNL1	4567	HP:0001249	Intellectual disability
OMIM:256000	TRNL1	4567	HP:0001332	Dystonia
OMIM:256000	TRNL1	4567	HP:0002311	Incoordination
OMIM:256000	TRNL1	4567	HP:0100543	Cognitive impairment
OMIM:256000	TRNL1	4567	HP:0001250	Seizures
OMIM:256000	TRNL1	4567	HP:0000580	Pigmentary retinopathy
OMIM:256000	TRNL1	4567	HP:0000639	Nystagmus
OMIM:256000	TRNL1	4567	HP:0000508	Ptosis
OMIM:256000	TRNL1	4567	HP:0001508	Failure to thrive
OMIM:256000	TRNL1	4567	HP:0003593	Infantile onset
OMIM:256000	TRNL1	4567	HP:0002171	Gliosis
OMIM:256000	TRNL1	4567	HP:0002793	Abnormal pattern of respiration
OMIM:256000	TRNL1	4567	HP:0000407	Sensorineural hearing impairment
OMIM:256000	TRNL1	4567	HP:0000486	Strabismus
OMIM:256000	TRNL1	4567	HP:0002490	Increased CSF lactate
OMIM:256000	TRNL1	4567	HP:0001347	Hyperreflexia
OMIM:256000	TRNL1	4567	HP:0007305	CNS demyelination
OMIM:256000	TRNL1	4567	HP:0000998	Hypertrichosis
OMIM:256000	TRNL1	4567	HP:0100022	Abnormality of movement
OMIM:256000	TRNL1	4567	HP:0001252	Muscular hypotonia
OMIM:256000	TRNL1	4567	HP:0001260	Dysarthria
OMIM:256000	TRNL1	4567	HP:0001404	Hepatocellular necrosis
OMIM:256000	TRNL1	4567	HP:0000602	Ophthalmoplegia
OMIM:256000	TRNL1	4567	HP:0003812	Phenotypic variability
OMIM:256000	TRNL1	4567	HP:0000007	Autosomal recessive inheritance
OMIM:256000	TRNL1	4567	HP:0001251	Ataxia
OMIM:256000	TRNL1	4567	HP:0000648	Optic atrophy
OMIM:256000	TRNL1	4567	HP:0001257	Spasticity
OMIM:256000	TRNL1	4567	HP:0001263	Global developmental delay
OMIM:256000	TRNL1	4567	HP:0002151	Increased serum lactate
OMIM:256000	TRNL1	4567	HP:0002878	Respiratory failure
OMIM:256000	NDUFA4	4697	HP:0003128	Lactic acidosis
OMIM:256000	NDUFA4	4697	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFA4	4697	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFA4	4697	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFA4	4697	HP:0001425	Heterogeneous
OMIM:256000	NDUFA4	4697	HP:0000712	Emotional lability
OMIM:256000	NDUFA4	4697	HP:0003676	Progressive
OMIM:256000	NDUFA4	4697	HP:0001249	Intellectual disability
OMIM:256000	NDUFA4	4697	HP:0001332	Dystonia
OMIM:256000	NDUFA4	4697	HP:0002311	Incoordination
OMIM:256000	NDUFA4	4697	HP:0100543	Cognitive impairment
OMIM:256000	NDUFA4	4697	HP:0001250	Seizures
OMIM:256000	NDUFA4	4697	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFA4	4697	HP:0000639	Nystagmus
OMIM:256000	NDUFA4	4697	HP:0000508	Ptosis
OMIM:256000	NDUFA4	4697	HP:0001508	Failure to thrive
OMIM:256000	NDUFA4	4697	HP:0003593	Infantile onset
OMIM:256000	NDUFA4	4697	HP:0002171	Gliosis
OMIM:256000	NDUFA4	4697	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFA4	4697	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFA4	4697	HP:0000486	Strabismus
OMIM:256000	NDUFA4	4697	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFA4	4697	HP:0001347	Hyperreflexia
OMIM:256000	NDUFA4	4697	HP:0007305	CNS demyelination
OMIM:256000	NDUFA4	4697	HP:0000998	Hypertrichosis
OMIM:256000	NDUFA4	4697	HP:0100022	Abnormality of movement
OMIM:256000	NDUFA4	4697	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFA4	4697	HP:0001260	Dysarthria
OMIM:256000	NDUFA4	4697	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFA4	4697	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFA4	4697	HP:0003812	Phenotypic variability
OMIM:256000	NDUFA4	4697	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFA4	4697	HP:0001251	Ataxia
OMIM:256000	NDUFA4	4697	HP:0000648	Optic atrophy
OMIM:256000	NDUFA4	4697	HP:0001257	Spasticity
OMIM:256000	NDUFA4	4697	HP:0001263	Global developmental delay
OMIM:256000	NDUFA4	4697	HP:0002151	Increased serum lactate
OMIM:256000	NDUFA4	4697	HP:0002878	Respiratory failure
OMIM:256000	ATP6	4508	HP:0003128	Lactic acidosis
OMIM:256000	ATP6	4508	HP:0002093	Respiratory insufficiency
OMIM:256000	ATP6	4508	HP:0000597	Ophthalmoparesis
OMIM:256000	ATP6	4508	HP:0001427	Mitochondrial inheritance
OMIM:256000	ATP6	4508	HP:0001425	Heterogeneous
OMIM:256000	ATP6	4508	HP:0000712	Emotional lability
OMIM:256000	ATP6	4508	HP:0003676	Progressive
OMIM:256000	ATP6	4508	HP:0001249	Intellectual disability
OMIM:256000	ATP6	4508	HP:0001332	Dystonia
OMIM:256000	ATP6	4508	HP:0002311	Incoordination
OMIM:256000	ATP6	4508	HP:0100543	Cognitive impairment
OMIM:256000	ATP6	4508	HP:0001250	Seizures
OMIM:256000	ATP6	4508	HP:0000580	Pigmentary retinopathy
OMIM:256000	ATP6	4508	HP:0000639	Nystagmus
OMIM:256000	ATP6	4508	HP:0000508	Ptosis
OMIM:256000	ATP6	4508	HP:0001508	Failure to thrive
OMIM:256000	ATP6	4508	HP:0003593	Infantile onset
OMIM:256000	ATP6	4508	HP:0002171	Gliosis
OMIM:256000	ATP6	4508	HP:0002793	Abnormal pattern of respiration
OMIM:256000	ATP6	4508	HP:0000407	Sensorineural hearing impairment
OMIM:256000	ATP6	4508	HP:0000486	Strabismus
OMIM:256000	ATP6	4508	HP:0002490	Increased CSF lactate
OMIM:256000	ATP6	4508	HP:0001347	Hyperreflexia
OMIM:256000	ATP6	4508	HP:0007305	CNS demyelination
OMIM:256000	ATP6	4508	HP:0000998	Hypertrichosis
OMIM:256000	ATP6	4508	HP:0100022	Abnormality of movement
OMIM:256000	ATP6	4508	HP:0001252	Muscular hypotonia
OMIM:256000	ATP6	4508	HP:0001260	Dysarthria
OMIM:256000	ATP6	4508	HP:0001404	Hepatocellular necrosis
OMIM:256000	ATP6	4508	HP:0000602	Ophthalmoplegia
OMIM:256000	ATP6	4508	HP:0003812	Phenotypic variability
OMIM:256000	ATP6	4508	HP:0000007	Autosomal recessive inheritance
OMIM:256000	ATP6	4508	HP:0001251	Ataxia
OMIM:256000	ATP6	4508	HP:0000648	Optic atrophy
OMIM:256000	ATP6	4508	HP:0001257	Spasticity
OMIM:256000	ATP6	4508	HP:0001263	Global developmental delay
OMIM:256000	ATP6	4508	HP:0002151	Increased serum lactate
OMIM:256000	ATP6	4508	HP:0002878	Respiratory failure
OMIM:256000	NDUFAF5	79133	HP:0003128	Lactic acidosis
OMIM:256000	NDUFAF5	79133	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFAF5	79133	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFAF5	79133	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFAF5	79133	HP:0001425	Heterogeneous
OMIM:256000	NDUFAF5	79133	HP:0000712	Emotional lability
OMIM:256000	NDUFAF5	79133	HP:0003676	Progressive
OMIM:256000	NDUFAF5	79133	HP:0001249	Intellectual disability
OMIM:256000	NDUFAF5	79133	HP:0001332	Dystonia
OMIM:256000	NDUFAF5	79133	HP:0002311	Incoordination
OMIM:256000	NDUFAF5	79133	HP:0100543	Cognitive impairment
OMIM:256000	NDUFAF5	79133	HP:0001250	Seizures
OMIM:256000	NDUFAF5	79133	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFAF5	79133	HP:0000639	Nystagmus
OMIM:256000	NDUFAF5	79133	HP:0000508	Ptosis
OMIM:256000	NDUFAF5	79133	HP:0001508	Failure to thrive
OMIM:256000	NDUFAF5	79133	HP:0003593	Infantile onset
OMIM:256000	NDUFAF5	79133	HP:0002171	Gliosis
OMIM:256000	NDUFAF5	79133	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFAF5	79133	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFAF5	79133	HP:0000486	Strabismus
OMIM:256000	NDUFAF5	79133	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFAF5	79133	HP:0001347	Hyperreflexia
OMIM:256000	NDUFAF5	79133	HP:0007305	CNS demyelination
OMIM:256000	NDUFAF5	79133	HP:0000998	Hypertrichosis
OMIM:256000	NDUFAF5	79133	HP:0100022	Abnormality of movement
OMIM:256000	NDUFAF5	79133	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFAF5	79133	HP:0001260	Dysarthria
OMIM:256000	NDUFAF5	79133	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFAF5	79133	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFAF5	79133	HP:0003812	Phenotypic variability
OMIM:256000	NDUFAF5	79133	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFAF5	79133	HP:0001251	Ataxia
OMIM:256000	NDUFAF5	79133	HP:0000648	Optic atrophy
OMIM:256000	NDUFAF5	79133	HP:0001257	Spasticity
OMIM:256000	NDUFAF5	79133	HP:0001263	Global developmental delay
OMIM:256000	NDUFAF5	79133	HP:0002151	Increased serum lactate
OMIM:256000	NDUFAF5	79133	HP:0002878	Respiratory failure
OMIM:256000	NDUFA12	55967	HP:0003128	Lactic acidosis
OMIM:256000	NDUFA12	55967	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFA12	55967	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFA12	55967	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFA12	55967	HP:0001425	Heterogeneous
OMIM:256000	NDUFA12	55967	HP:0000712	Emotional lability
OMIM:256000	NDUFA12	55967	HP:0003676	Progressive
OMIM:256000	NDUFA12	55967	HP:0001249	Intellectual disability
OMIM:256000	NDUFA12	55967	HP:0001332	Dystonia
OMIM:256000	NDUFA12	55967	HP:0002311	Incoordination
OMIM:256000	NDUFA12	55967	HP:0100543	Cognitive impairment
OMIM:256000	NDUFA12	55967	HP:0001250	Seizures
OMIM:256000	NDUFA12	55967	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFA12	55967	HP:0000639	Nystagmus
OMIM:256000	NDUFA12	55967	HP:0000508	Ptosis
OMIM:256000	NDUFA12	55967	HP:0001508	Failure to thrive
OMIM:256000	NDUFA12	55967	HP:0003593	Infantile onset
OMIM:256000	NDUFA12	55967	HP:0002171	Gliosis
OMIM:256000	NDUFA12	55967	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFA12	55967	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFA12	55967	HP:0000486	Strabismus
OMIM:256000	NDUFA12	55967	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFA12	55967	HP:0001347	Hyperreflexia
OMIM:256000	NDUFA12	55967	HP:0007305	CNS demyelination
OMIM:256000	NDUFA12	55967	HP:0000998	Hypertrichosis
OMIM:256000	NDUFA12	55967	HP:0100022	Abnormality of movement
OMIM:256000	NDUFA12	55967	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFA12	55967	HP:0001260	Dysarthria
OMIM:256000	NDUFA12	55967	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFA12	55967	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFA12	55967	HP:0003812	Phenotypic variability
OMIM:256000	NDUFA12	55967	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFA12	55967	HP:0001251	Ataxia
OMIM:256000	NDUFA12	55967	HP:0000648	Optic atrophy
OMIM:256000	NDUFA12	55967	HP:0001257	Spasticity
OMIM:256000	NDUFA12	55967	HP:0001263	Global developmental delay
OMIM:256000	NDUFA12	55967	HP:0002151	Increased serum lactate
OMIM:256000	NDUFA12	55967	HP:0002878	Respiratory failure
OMIM:256000	NDUFA9	4704	HP:0003128	Lactic acidosis
OMIM:256000	NDUFA9	4704	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFA9	4704	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFA9	4704	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFA9	4704	HP:0001425	Heterogeneous
OMIM:256000	NDUFA9	4704	HP:0000712	Emotional lability
OMIM:256000	NDUFA9	4704	HP:0003676	Progressive
OMIM:256000	NDUFA9	4704	HP:0001249	Intellectual disability
OMIM:256000	NDUFA9	4704	HP:0001332	Dystonia
OMIM:256000	NDUFA9	4704	HP:0002311	Incoordination
OMIM:256000	NDUFA9	4704	HP:0100543	Cognitive impairment
OMIM:256000	NDUFA9	4704	HP:0001250	Seizures
OMIM:256000	NDUFA9	4704	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFA9	4704	HP:0000639	Nystagmus
OMIM:256000	NDUFA9	4704	HP:0000508	Ptosis
OMIM:256000	NDUFA9	4704	HP:0001508	Failure to thrive
OMIM:256000	NDUFA9	4704	HP:0003593	Infantile onset
OMIM:256000	NDUFA9	4704	HP:0002171	Gliosis
OMIM:256000	NDUFA9	4704	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFA9	4704	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFA9	4704	HP:0000486	Strabismus
OMIM:256000	NDUFA9	4704	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFA9	4704	HP:0001347	Hyperreflexia
OMIM:256000	NDUFA9	4704	HP:0007305	CNS demyelination
OMIM:256000	NDUFA9	4704	HP:0000998	Hypertrichosis
OMIM:256000	NDUFA9	4704	HP:0100022	Abnormality of movement
OMIM:256000	NDUFA9	4704	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFA9	4704	HP:0001260	Dysarthria
OMIM:256000	NDUFA9	4704	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFA9	4704	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFA9	4704	HP:0003812	Phenotypic variability
OMIM:256000	NDUFA9	4704	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFA9	4704	HP:0001251	Ataxia
OMIM:256000	NDUFA9	4704	HP:0000648	Optic atrophy
OMIM:256000	NDUFA9	4704	HP:0001257	Spasticity
OMIM:256000	NDUFA9	4704	HP:0001263	Global developmental delay
OMIM:256000	NDUFA9	4704	HP:0002151	Increased serum lactate
OMIM:256000	NDUFA9	4704	HP:0002878	Respiratory failure
OMIM:256000	NDUFA10	4705	HP:0003128	Lactic acidosis
OMIM:256000	NDUFA10	4705	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFA10	4705	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFA10	4705	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFA10	4705	HP:0001425	Heterogeneous
OMIM:256000	NDUFA10	4705	HP:0000712	Emotional lability
OMIM:256000	NDUFA10	4705	HP:0003676	Progressive
OMIM:256000	NDUFA10	4705	HP:0001249	Intellectual disability
OMIM:256000	NDUFA10	4705	HP:0001332	Dystonia
OMIM:256000	NDUFA10	4705	HP:0002311	Incoordination
OMIM:256000	NDUFA10	4705	HP:0100543	Cognitive impairment
OMIM:256000	NDUFA10	4705	HP:0001250	Seizures
OMIM:256000	NDUFA10	4705	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFA10	4705	HP:0000639	Nystagmus
OMIM:256000	NDUFA10	4705	HP:0000508	Ptosis
OMIM:256000	NDUFA10	4705	HP:0001508	Failure to thrive
OMIM:256000	NDUFA10	4705	HP:0003593	Infantile onset
OMIM:256000	NDUFA10	4705	HP:0002171	Gliosis
OMIM:256000	NDUFA10	4705	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFA10	4705	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFA10	4705	HP:0000486	Strabismus
OMIM:256000	NDUFA10	4705	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFA10	4705	HP:0001347	Hyperreflexia
OMIM:256000	NDUFA10	4705	HP:0007305	CNS demyelination
OMIM:256000	NDUFA10	4705	HP:0000998	Hypertrichosis
OMIM:256000	NDUFA10	4705	HP:0100022	Abnormality of movement
OMIM:256000	NDUFA10	4705	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFA10	4705	HP:0001260	Dysarthria
OMIM:256000	NDUFA10	4705	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFA10	4705	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFA10	4705	HP:0003812	Phenotypic variability
OMIM:256000	NDUFA10	4705	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFA10	4705	HP:0001251	Ataxia
OMIM:256000	NDUFA10	4705	HP:0000648	Optic atrophy
OMIM:256000	NDUFA10	4705	HP:0001257	Spasticity
OMIM:256000	NDUFA10	4705	HP:0001263	Global developmental delay
OMIM:256000	NDUFA10	4705	HP:0002151	Increased serum lactate
OMIM:256000	NDUFA10	4705	HP:0002878	Respiratory failure
OMIM:256000	TRNV	4577	HP:0003128	Lactic acidosis
OMIM:256000	TRNV	4577	HP:0002093	Respiratory insufficiency
OMIM:256000	TRNV	4577	HP:0000597	Ophthalmoparesis
OMIM:256000	TRNV	4577	HP:0001427	Mitochondrial inheritance
OMIM:256000	TRNV	4577	HP:0001425	Heterogeneous
OMIM:256000	TRNV	4577	HP:0000712	Emotional lability
OMIM:256000	TRNV	4577	HP:0003676	Progressive
OMIM:256000	TRNV	4577	HP:0001249	Intellectual disability
OMIM:256000	TRNV	4577	HP:0001332	Dystonia
OMIM:256000	TRNV	4577	HP:0002311	Incoordination
OMIM:256000	TRNV	4577	HP:0100543	Cognitive impairment
OMIM:256000	TRNV	4577	HP:0001250	Seizures
OMIM:256000	TRNV	4577	HP:0000580	Pigmentary retinopathy
OMIM:256000	TRNV	4577	HP:0000639	Nystagmus
OMIM:256000	TRNV	4577	HP:0000508	Ptosis
OMIM:256000	TRNV	4577	HP:0001508	Failure to thrive
OMIM:256000	TRNV	4577	HP:0003593	Infantile onset
OMIM:256000	TRNV	4577	HP:0002171	Gliosis
OMIM:256000	TRNV	4577	HP:0002793	Abnormal pattern of respiration
OMIM:256000	TRNV	4577	HP:0000407	Sensorineural hearing impairment
OMIM:256000	TRNV	4577	HP:0000486	Strabismus
OMIM:256000	TRNV	4577	HP:0002490	Increased CSF lactate
OMIM:256000	TRNV	4577	HP:0001347	Hyperreflexia
OMIM:256000	TRNV	4577	HP:0007305	CNS demyelination
OMIM:256000	TRNV	4577	HP:0000998	Hypertrichosis
OMIM:256000	TRNV	4577	HP:0100022	Abnormality of movement
OMIM:256000	TRNV	4577	HP:0001252	Muscular hypotonia
OMIM:256000	TRNV	4577	HP:0001260	Dysarthria
OMIM:256000	TRNV	4577	HP:0001404	Hepatocellular necrosis
OMIM:256000	TRNV	4577	HP:0000602	Ophthalmoplegia
OMIM:256000	TRNV	4577	HP:0003812	Phenotypic variability
OMIM:256000	TRNV	4577	HP:0000007	Autosomal recessive inheritance
OMIM:256000	TRNV	4577	HP:0001251	Ataxia
OMIM:256000	TRNV	4577	HP:0000648	Optic atrophy
OMIM:256000	TRNV	4577	HP:0001257	Spasticity
OMIM:256000	TRNV	4577	HP:0001263	Global developmental delay
OMIM:256000	TRNV	4577	HP:0002151	Increased serum lactate
OMIM:256000	TRNV	4577	HP:0002878	Respiratory failure
OMIM:256000	TRNW	4578	HP:0003128	Lactic acidosis
OMIM:256000	TRNW	4578	HP:0002093	Respiratory insufficiency
OMIM:256000	TRNW	4578	HP:0000597	Ophthalmoparesis
OMIM:256000	TRNW	4578	HP:0001427	Mitochondrial inheritance
OMIM:256000	TRNW	4578	HP:0001425	Heterogeneous
OMIM:256000	TRNW	4578	HP:0000712	Emotional lability
OMIM:256000	TRNW	4578	HP:0003676	Progressive
OMIM:256000	TRNW	4578	HP:0001249	Intellectual disability
OMIM:256000	TRNW	4578	HP:0001332	Dystonia
OMIM:256000	TRNW	4578	HP:0002311	Incoordination
OMIM:256000	TRNW	4578	HP:0100543	Cognitive impairment
OMIM:256000	TRNW	4578	HP:0001250	Seizures
OMIM:256000	TRNW	4578	HP:0000580	Pigmentary retinopathy
OMIM:256000	TRNW	4578	HP:0000639	Nystagmus
OMIM:256000	TRNW	4578	HP:0000508	Ptosis
OMIM:256000	TRNW	4578	HP:0001508	Failure to thrive
OMIM:256000	TRNW	4578	HP:0003593	Infantile onset
OMIM:256000	TRNW	4578	HP:0002171	Gliosis
OMIM:256000	TRNW	4578	HP:0002793	Abnormal pattern of respiration
OMIM:256000	TRNW	4578	HP:0000407	Sensorineural hearing impairment
OMIM:256000	TRNW	4578	HP:0000486	Strabismus
OMIM:256000	TRNW	4578	HP:0002490	Increased CSF lactate
OMIM:256000	TRNW	4578	HP:0001347	Hyperreflexia
OMIM:256000	TRNW	4578	HP:0007305	CNS demyelination
OMIM:256000	TRNW	4578	HP:0000998	Hypertrichosis
OMIM:256000	TRNW	4578	HP:0100022	Abnormality of movement
OMIM:256000	TRNW	4578	HP:0001252	Muscular hypotonia
OMIM:256000	TRNW	4578	HP:0001260	Dysarthria
OMIM:256000	TRNW	4578	HP:0001404	Hepatocellular necrosis
OMIM:256000	TRNW	4578	HP:0000602	Ophthalmoplegia
OMIM:256000	TRNW	4578	HP:0003812	Phenotypic variability
OMIM:256000	TRNW	4578	HP:0000007	Autosomal recessive inheritance
OMIM:256000	TRNW	4578	HP:0001251	Ataxia
OMIM:256000	TRNW	4578	HP:0000648	Optic atrophy
OMIM:256000	TRNW	4578	HP:0001257	Spasticity
OMIM:256000	TRNW	4578	HP:0001263	Global developmental delay
OMIM:256000	TRNW	4578	HP:0002151	Increased serum lactate
OMIM:256000	TRNW	4578	HP:0002878	Respiratory failure
OMIM:256000	ECHS1	1892	HP:0003128	Lactic acidosis
OMIM:256000	ECHS1	1892	HP:0002093	Respiratory insufficiency
OMIM:256000	ECHS1	1892	HP:0000597	Ophthalmoparesis
OMIM:256000	ECHS1	1892	HP:0001427	Mitochondrial inheritance
OMIM:256000	ECHS1	1892	HP:0001425	Heterogeneous
OMIM:256000	ECHS1	1892	HP:0000712	Emotional lability
OMIM:256000	ECHS1	1892	HP:0003676	Progressive
OMIM:256000	ECHS1	1892	HP:0001249	Intellectual disability
OMIM:256000	ECHS1	1892	HP:0001332	Dystonia
OMIM:256000	ECHS1	1892	HP:0002311	Incoordination
OMIM:256000	ECHS1	1892	HP:0100543	Cognitive impairment
OMIM:256000	ECHS1	1892	HP:0001250	Seizures
OMIM:256000	ECHS1	1892	HP:0000580	Pigmentary retinopathy
OMIM:256000	ECHS1	1892	HP:0000639	Nystagmus
OMIM:256000	ECHS1	1892	HP:0000508	Ptosis
OMIM:256000	ECHS1	1892	HP:0001508	Failure to thrive
OMIM:256000	ECHS1	1892	HP:0003593	Infantile onset
OMIM:256000	ECHS1	1892	HP:0002171	Gliosis
OMIM:256000	ECHS1	1892	HP:0002793	Abnormal pattern of respiration
OMIM:256000	ECHS1	1892	HP:0000407	Sensorineural hearing impairment
OMIM:256000	ECHS1	1892	HP:0000486	Strabismus
OMIM:256000	ECHS1	1892	HP:0002490	Increased CSF lactate
OMIM:256000	ECHS1	1892	HP:0001347	Hyperreflexia
OMIM:256000	ECHS1	1892	HP:0007305	CNS demyelination
OMIM:256000	ECHS1	1892	HP:0000998	Hypertrichosis
OMIM:256000	ECHS1	1892	HP:0100022	Abnormality of movement
OMIM:256000	ECHS1	1892	HP:0001252	Muscular hypotonia
OMIM:256000	ECHS1	1892	HP:0001260	Dysarthria
OMIM:256000	ECHS1	1892	HP:0001404	Hepatocellular necrosis
OMIM:256000	ECHS1	1892	HP:0000602	Ophthalmoplegia
OMIM:256000	ECHS1	1892	HP:0003812	Phenotypic variability
OMIM:256000	ECHS1	1892	HP:0000007	Autosomal recessive inheritance
OMIM:256000	ECHS1	1892	HP:0001251	Ataxia
OMIM:256000	ECHS1	1892	HP:0000648	Optic atrophy
OMIM:256000	ECHS1	1892	HP:0001257	Spasticity
OMIM:256000	ECHS1	1892	HP:0001263	Global developmental delay
OMIM:256000	ECHS1	1892	HP:0002151	Increased serum lactate
OMIM:256000	ECHS1	1892	HP:0002878	Respiratory failure
OMIM:256000	NDUFAF2	91942	HP:0003128	Lactic acidosis
OMIM:256000	NDUFAF2	91942	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFAF2	91942	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFAF2	91942	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFAF2	91942	HP:0001425	Heterogeneous
OMIM:256000	NDUFAF2	91942	HP:0000712	Emotional lability
OMIM:256000	NDUFAF2	91942	HP:0003676	Progressive
OMIM:256000	NDUFAF2	91942	HP:0001249	Intellectual disability
OMIM:256000	NDUFAF2	91942	HP:0001332	Dystonia
OMIM:256000	NDUFAF2	91942	HP:0002311	Incoordination
OMIM:256000	NDUFAF2	91942	HP:0100543	Cognitive impairment
OMIM:256000	NDUFAF2	91942	HP:0001250	Seizures
OMIM:256000	NDUFAF2	91942	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFAF2	91942	HP:0000639	Nystagmus
OMIM:256000	NDUFAF2	91942	HP:0000508	Ptosis
OMIM:256000	NDUFAF2	91942	HP:0001508	Failure to thrive
OMIM:256000	NDUFAF2	91942	HP:0003593	Infantile onset
OMIM:256000	NDUFAF2	91942	HP:0002171	Gliosis
OMIM:256000	NDUFAF2	91942	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFAF2	91942	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFAF2	91942	HP:0000486	Strabismus
OMIM:256000	NDUFAF2	91942	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFAF2	91942	HP:0001347	Hyperreflexia
OMIM:256000	NDUFAF2	91942	HP:0007305	CNS demyelination
OMIM:256000	NDUFAF2	91942	HP:0000998	Hypertrichosis
OMIM:256000	NDUFAF2	91942	HP:0100022	Abnormality of movement
OMIM:256000	NDUFAF2	91942	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFAF2	91942	HP:0001260	Dysarthria
OMIM:256000	NDUFAF2	91942	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFAF2	91942	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFAF2	91942	HP:0003812	Phenotypic variability
OMIM:256000	NDUFAF2	91942	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFAF2	91942	HP:0001251	Ataxia
OMIM:256000	NDUFAF2	91942	HP:0000648	Optic atrophy
OMIM:256000	NDUFAF2	91942	HP:0001257	Spasticity
OMIM:256000	NDUFAF2	91942	HP:0001263	Global developmental delay
OMIM:256000	NDUFAF2	91942	HP:0002151	Increased serum lactate
OMIM:256000	NDUFAF2	91942	HP:0002878	Respiratory failure
OMIM:256000	PDHA1	5160	HP:0003128	Lactic acidosis
OMIM:256000	PDHA1	5160	HP:0002093	Respiratory insufficiency
OMIM:256000	PDHA1	5160	HP:0000597	Ophthalmoparesis
OMIM:256000	PDHA1	5160	HP:0001427	Mitochondrial inheritance
OMIM:256000	PDHA1	5160	HP:0001425	Heterogeneous
OMIM:256000	PDHA1	5160	HP:0000712	Emotional lability
OMIM:256000	PDHA1	5160	HP:0003676	Progressive
OMIM:256000	PDHA1	5160	HP:0001249	Intellectual disability
OMIM:256000	PDHA1	5160	HP:0001332	Dystonia
OMIM:256000	PDHA1	5160	HP:0002311	Incoordination
OMIM:256000	PDHA1	5160	HP:0100543	Cognitive impairment
OMIM:256000	PDHA1	5160	HP:0001250	Seizures
OMIM:256000	PDHA1	5160	HP:0000580	Pigmentary retinopathy
OMIM:256000	PDHA1	5160	HP:0000639	Nystagmus
OMIM:256000	PDHA1	5160	HP:0000508	Ptosis
OMIM:256000	PDHA1	5160	HP:0001508	Failure to thrive
OMIM:256000	PDHA1	5160	HP:0003593	Infantile onset
OMIM:256000	PDHA1	5160	HP:0002171	Gliosis
OMIM:256000	PDHA1	5160	HP:0002793	Abnormal pattern of respiration
OMIM:256000	PDHA1	5160	HP:0000407	Sensorineural hearing impairment
OMIM:256000	PDHA1	5160	HP:0000486	Strabismus
OMIM:256000	PDHA1	5160	HP:0002490	Increased CSF lactate
OMIM:256000	PDHA1	5160	HP:0001347	Hyperreflexia
OMIM:256000	PDHA1	5160	HP:0007305	CNS demyelination
OMIM:256000	PDHA1	5160	HP:0000998	Hypertrichosis
OMIM:256000	PDHA1	5160	HP:0100022	Abnormality of movement
OMIM:256000	PDHA1	5160	HP:0001252	Muscular hypotonia
OMIM:256000	PDHA1	5160	HP:0001260	Dysarthria
OMIM:256000	PDHA1	5160	HP:0001404	Hepatocellular necrosis
OMIM:256000	PDHA1	5160	HP:0000602	Ophthalmoplegia
OMIM:256000	PDHA1	5160	HP:0003812	Phenotypic variability
OMIM:256000	PDHA1	5160	HP:0000007	Autosomal recessive inheritance
OMIM:256000	PDHA1	5160	HP:0001251	Ataxia
OMIM:256000	PDHA1	5160	HP:0000648	Optic atrophy
OMIM:256000	PDHA1	5160	HP:0001257	Spasticity
OMIM:256000	PDHA1	5160	HP:0001263	Global developmental delay
OMIM:256000	PDHA1	5160	HP:0002151	Increased serum lactate
OMIM:256000	PDHA1	5160	HP:0002878	Respiratory failure
OMIM:256000	BCS1L	617	HP:0003128	Lactic acidosis
OMIM:256000	BCS1L	617	HP:0002093	Respiratory insufficiency
OMIM:256000	BCS1L	617	HP:0000597	Ophthalmoparesis
OMIM:256000	BCS1L	617	HP:0001427	Mitochondrial inheritance
OMIM:256000	BCS1L	617	HP:0001425	Heterogeneous
OMIM:256000	BCS1L	617	HP:0000712	Emotional lability
OMIM:256000	BCS1L	617	HP:0003676	Progressive
OMIM:256000	BCS1L	617	HP:0001249	Intellectual disability
OMIM:256000	BCS1L	617	HP:0001332	Dystonia
OMIM:256000	BCS1L	617	HP:0002311	Incoordination
OMIM:256000	BCS1L	617	HP:0100543	Cognitive impairment
OMIM:256000	BCS1L	617	HP:0001250	Seizures
OMIM:256000	BCS1L	617	HP:0000580	Pigmentary retinopathy
OMIM:256000	BCS1L	617	HP:0000639	Nystagmus
OMIM:256000	BCS1L	617	HP:0000508	Ptosis
OMIM:256000	BCS1L	617	HP:0001508	Failure to thrive
OMIM:256000	BCS1L	617	HP:0003593	Infantile onset
OMIM:256000	BCS1L	617	HP:0002171	Gliosis
OMIM:256000	BCS1L	617	HP:0002793	Abnormal pattern of respiration
OMIM:256000	BCS1L	617	HP:0000407	Sensorineural hearing impairment
OMIM:256000	BCS1L	617	HP:0000486	Strabismus
OMIM:256000	BCS1L	617	HP:0002490	Increased CSF lactate
OMIM:256000	BCS1L	617	HP:0001347	Hyperreflexia
OMIM:256000	BCS1L	617	HP:0007305	CNS demyelination
OMIM:256000	BCS1L	617	HP:0000998	Hypertrichosis
OMIM:256000	BCS1L	617	HP:0100022	Abnormality of movement
OMIM:256000	BCS1L	617	HP:0001252	Muscular hypotonia
OMIM:256000	BCS1L	617	HP:0001260	Dysarthria
OMIM:256000	BCS1L	617	HP:0001404	Hepatocellular necrosis
OMIM:256000	BCS1L	617	HP:0000602	Ophthalmoplegia
OMIM:256000	BCS1L	617	HP:0003812	Phenotypic variability
OMIM:256000	BCS1L	617	HP:0000007	Autosomal recessive inheritance
OMIM:256000	BCS1L	617	HP:0001251	Ataxia
OMIM:256000	BCS1L	617	HP:0000648	Optic atrophy
OMIM:256000	BCS1L	617	HP:0001257	Spasticity
OMIM:256000	BCS1L	617	HP:0001263	Global developmental delay
OMIM:256000	BCS1L	617	HP:0002151	Increased serum lactate
OMIM:256000	BCS1L	617	HP:0002878	Respiratory failure
OMIM:256000	PET100	100131801	HP:0003128	Lactic acidosis
OMIM:256000	PET100	100131801	HP:0002093	Respiratory insufficiency
OMIM:256000	PET100	100131801	HP:0000597	Ophthalmoparesis
OMIM:256000	PET100	100131801	HP:0001427	Mitochondrial inheritance
OMIM:256000	PET100	100131801	HP:0001425	Heterogeneous
OMIM:256000	PET100	100131801	HP:0000712	Emotional lability
OMIM:256000	PET100	100131801	HP:0003676	Progressive
OMIM:256000	PET100	100131801	HP:0001249	Intellectual disability
OMIM:256000	PET100	100131801	HP:0001332	Dystonia
OMIM:256000	PET100	100131801	HP:0002311	Incoordination
OMIM:256000	PET100	100131801	HP:0100543	Cognitive impairment
OMIM:256000	PET100	100131801	HP:0001250	Seizures
OMIM:256000	PET100	100131801	HP:0000580	Pigmentary retinopathy
OMIM:256000	PET100	100131801	HP:0000639	Nystagmus
OMIM:256000	PET100	100131801	HP:0000508	Ptosis
OMIM:256000	PET100	100131801	HP:0001508	Failure to thrive
OMIM:256000	PET100	100131801	HP:0003593	Infantile onset
OMIM:256000	PET100	100131801	HP:0002171	Gliosis
OMIM:256000	PET100	100131801	HP:0002793	Abnormal pattern of respiration
OMIM:256000	PET100	100131801	HP:0000407	Sensorineural hearing impairment
OMIM:256000	PET100	100131801	HP:0000486	Strabismus
OMIM:256000	PET100	100131801	HP:0002490	Increased CSF lactate
OMIM:256000	PET100	100131801	HP:0001347	Hyperreflexia
OMIM:256000	PET100	100131801	HP:0007305	CNS demyelination
OMIM:256000	PET100	100131801	HP:0000998	Hypertrichosis
OMIM:256000	PET100	100131801	HP:0100022	Abnormality of movement
OMIM:256000	PET100	100131801	HP:0001252	Muscular hypotonia
OMIM:256000	PET100	100131801	HP:0001260	Dysarthria
OMIM:256000	PET100	100131801	HP:0001404	Hepatocellular necrosis
OMIM:256000	PET100	100131801	HP:0000602	Ophthalmoplegia
OMIM:256000	PET100	100131801	HP:0003812	Phenotypic variability
OMIM:256000	PET100	100131801	HP:0000007	Autosomal recessive inheritance
OMIM:256000	PET100	100131801	HP:0001251	Ataxia
OMIM:256000	PET100	100131801	HP:0000648	Optic atrophy
OMIM:256000	PET100	100131801	HP:0001257	Spasticity
OMIM:256000	PET100	100131801	HP:0001263	Global developmental delay
OMIM:256000	PET100	100131801	HP:0002151	Increased serum lactate
OMIM:256000	PET100	100131801	HP:0002878	Respiratory failure
OMIM:256000	NDUFS1	4719	HP:0003128	Lactic acidosis
OMIM:256000	NDUFS1	4719	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFS1	4719	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFS1	4719	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFS1	4719	HP:0001425	Heterogeneous
OMIM:256000	NDUFS1	4719	HP:0000712	Emotional lability
OMIM:256000	NDUFS1	4719	HP:0003676	Progressive
OMIM:256000	NDUFS1	4719	HP:0001249	Intellectual disability
OMIM:256000	NDUFS1	4719	HP:0001332	Dystonia
OMIM:256000	NDUFS1	4719	HP:0002311	Incoordination
OMIM:256000	NDUFS1	4719	HP:0100543	Cognitive impairment
OMIM:256000	NDUFS1	4719	HP:0001250	Seizures
OMIM:256000	NDUFS1	4719	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFS1	4719	HP:0000639	Nystagmus
OMIM:256000	NDUFS1	4719	HP:0000508	Ptosis
OMIM:256000	NDUFS1	4719	HP:0001508	Failure to thrive
OMIM:256000	NDUFS1	4719	HP:0003593	Infantile onset
OMIM:256000	NDUFS1	4719	HP:0002171	Gliosis
OMIM:256000	NDUFS1	4719	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFS1	4719	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFS1	4719	HP:0000486	Strabismus
OMIM:256000	NDUFS1	4719	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFS1	4719	HP:0001347	Hyperreflexia
OMIM:256000	NDUFS1	4719	HP:0007305	CNS demyelination
OMIM:256000	NDUFS1	4719	HP:0000998	Hypertrichosis
OMIM:256000	NDUFS1	4719	HP:0100022	Abnormality of movement
OMIM:256000	NDUFS1	4719	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFS1	4719	HP:0001260	Dysarthria
OMIM:256000	NDUFS1	4719	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFS1	4719	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFS1	4719	HP:0003812	Phenotypic variability
OMIM:256000	NDUFS1	4719	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFS1	4719	HP:0001251	Ataxia
OMIM:256000	NDUFS1	4719	HP:0000648	Optic atrophy
OMIM:256000	NDUFS1	4719	HP:0001257	Spasticity
OMIM:256000	NDUFS1	4719	HP:0001263	Global developmental delay
OMIM:256000	NDUFS1	4719	HP:0002151	Increased serum lactate
OMIM:256000	NDUFS1	4719	HP:0002878	Respiratory failure
OMIM:256000	NDUFS2	4720	HP:0003128	Lactic acidosis
OMIM:256000	NDUFS2	4720	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFS2	4720	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFS2	4720	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFS2	4720	HP:0001425	Heterogeneous
OMIM:256000	NDUFS2	4720	HP:0000712	Emotional lability
OMIM:256000	NDUFS2	4720	HP:0003676	Progressive
OMIM:256000	NDUFS2	4720	HP:0001249	Intellectual disability
OMIM:256000	NDUFS2	4720	HP:0001332	Dystonia
OMIM:256000	NDUFS2	4720	HP:0002311	Incoordination
OMIM:256000	NDUFS2	4720	HP:0100543	Cognitive impairment
OMIM:256000	NDUFS2	4720	HP:0001250	Seizures
OMIM:256000	NDUFS2	4720	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFS2	4720	HP:0000639	Nystagmus
OMIM:256000	NDUFS2	4720	HP:0000508	Ptosis
OMIM:256000	NDUFS2	4720	HP:0001508	Failure to thrive
OMIM:256000	NDUFS2	4720	HP:0003593	Infantile onset
OMIM:256000	NDUFS2	4720	HP:0002171	Gliosis
OMIM:256000	NDUFS2	4720	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFS2	4720	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFS2	4720	HP:0000486	Strabismus
OMIM:256000	NDUFS2	4720	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFS2	4720	HP:0001347	Hyperreflexia
OMIM:256000	NDUFS2	4720	HP:0007305	CNS demyelination
OMIM:256000	NDUFS2	4720	HP:0000998	Hypertrichosis
OMIM:256000	NDUFS2	4720	HP:0100022	Abnormality of movement
OMIM:256000	NDUFS2	4720	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFS2	4720	HP:0001260	Dysarthria
OMIM:256000	NDUFS2	4720	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFS2	4720	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFS2	4720	HP:0003812	Phenotypic variability
OMIM:256000	NDUFS2	4720	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFS2	4720	HP:0001251	Ataxia
OMIM:256000	NDUFS2	4720	HP:0000648	Optic atrophy
OMIM:256000	NDUFS2	4720	HP:0001257	Spasticity
OMIM:256000	NDUFS2	4720	HP:0001263	Global developmental delay
OMIM:256000	NDUFS2	4720	HP:0002151	Increased serum lactate
OMIM:256000	NDUFS2	4720	HP:0002878	Respiratory failure
OMIM:256000	SURF1	6834	HP:0003128	Lactic acidosis
OMIM:256000	SURF1	6834	HP:0002093	Respiratory insufficiency
OMIM:256000	SURF1	6834	HP:0000597	Ophthalmoparesis
OMIM:256000	SURF1	6834	HP:0001427	Mitochondrial inheritance
OMIM:256000	SURF1	6834	HP:0001425	Heterogeneous
OMIM:256000	SURF1	6834	HP:0000712	Emotional lability
OMIM:256000	SURF1	6834	HP:0003676	Progressive
OMIM:256000	SURF1	6834	HP:0001249	Intellectual disability
OMIM:256000	SURF1	6834	HP:0001332	Dystonia
OMIM:256000	SURF1	6834	HP:0002311	Incoordination
OMIM:256000	SURF1	6834	HP:0100543	Cognitive impairment
OMIM:256000	SURF1	6834	HP:0001250	Seizures
OMIM:256000	SURF1	6834	HP:0000580	Pigmentary retinopathy
OMIM:256000	SURF1	6834	HP:0000639	Nystagmus
OMIM:256000	SURF1	6834	HP:0000508	Ptosis
OMIM:256000	SURF1	6834	HP:0001508	Failure to thrive
OMIM:256000	SURF1	6834	HP:0003593	Infantile onset
OMIM:256000	SURF1	6834	HP:0002171	Gliosis
OMIM:256000	SURF1	6834	HP:0002793	Abnormal pattern of respiration
OMIM:256000	SURF1	6834	HP:0000407	Sensorineural hearing impairment
OMIM:256000	SURF1	6834	HP:0000486	Strabismus
OMIM:256000	SURF1	6834	HP:0002490	Increased CSF lactate
OMIM:256000	SURF1	6834	HP:0001347	Hyperreflexia
OMIM:256000	SURF1	6834	HP:0007305	CNS demyelination
OMIM:256000	SURF1	6834	HP:0000998	Hypertrichosis
OMIM:256000	SURF1	6834	HP:0100022	Abnormality of movement
OMIM:256000	SURF1	6834	HP:0001252	Muscular hypotonia
OMIM:256000	SURF1	6834	HP:0001260	Dysarthria
OMIM:256000	SURF1	6834	HP:0001404	Hepatocellular necrosis
OMIM:256000	SURF1	6834	HP:0000602	Ophthalmoplegia
OMIM:256000	SURF1	6834	HP:0003812	Phenotypic variability
OMIM:256000	SURF1	6834	HP:0000007	Autosomal recessive inheritance
OMIM:256000	SURF1	6834	HP:0001251	Ataxia
OMIM:256000	SURF1	6834	HP:0000648	Optic atrophy
OMIM:256000	SURF1	6834	HP:0001257	Spasticity
OMIM:256000	SURF1	6834	HP:0001263	Global developmental delay
OMIM:256000	SURF1	6834	HP:0002151	Increased serum lactate
OMIM:256000	SURF1	6834	HP:0002878	Respiratory failure
OMIM:256000	NDUFS3	4722	HP:0003128	Lactic acidosis
OMIM:256000	NDUFS3	4722	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFS3	4722	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFS3	4722	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFS3	4722	HP:0001425	Heterogeneous
OMIM:256000	NDUFS3	4722	HP:0000712	Emotional lability
OMIM:256000	NDUFS3	4722	HP:0003676	Progressive
OMIM:256000	NDUFS3	4722	HP:0001249	Intellectual disability
OMIM:256000	NDUFS3	4722	HP:0001332	Dystonia
OMIM:256000	NDUFS3	4722	HP:0002311	Incoordination
OMIM:256000	NDUFS3	4722	HP:0100543	Cognitive impairment
OMIM:256000	NDUFS3	4722	HP:0001250	Seizures
OMIM:256000	NDUFS3	4722	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFS3	4722	HP:0000639	Nystagmus
OMIM:256000	NDUFS3	4722	HP:0000508	Ptosis
OMIM:256000	NDUFS3	4722	HP:0001508	Failure to thrive
OMIM:256000	NDUFS3	4722	HP:0003593	Infantile onset
OMIM:256000	NDUFS3	4722	HP:0002171	Gliosis
OMIM:256000	NDUFS3	4722	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFS3	4722	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFS3	4722	HP:0000486	Strabismus
OMIM:256000	NDUFS3	4722	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFS3	4722	HP:0001347	Hyperreflexia
OMIM:256000	NDUFS3	4722	HP:0007305	CNS demyelination
OMIM:256000	NDUFS3	4722	HP:0000998	Hypertrichosis
OMIM:256000	NDUFS3	4722	HP:0100022	Abnormality of movement
OMIM:256000	NDUFS3	4722	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFS3	4722	HP:0001260	Dysarthria
OMIM:256000	NDUFS3	4722	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFS3	4722	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFS3	4722	HP:0003812	Phenotypic variability
OMIM:256000	NDUFS3	4722	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFS3	4722	HP:0001251	Ataxia
OMIM:256000	NDUFS3	4722	HP:0000648	Optic atrophy
OMIM:256000	NDUFS3	4722	HP:0001257	Spasticity
OMIM:256000	NDUFS3	4722	HP:0001263	Global developmental delay
OMIM:256000	NDUFS3	4722	HP:0002151	Increased serum lactate
OMIM:256000	NDUFS3	4722	HP:0002878	Respiratory failure
OMIM:256000	NDUFV1	4723	HP:0003128	Lactic acidosis
OMIM:256000	NDUFV1	4723	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFV1	4723	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFV1	4723	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFV1	4723	HP:0001425	Heterogeneous
OMIM:256000	NDUFV1	4723	HP:0000712	Emotional lability
OMIM:256000	NDUFV1	4723	HP:0003676	Progressive
OMIM:256000	NDUFV1	4723	HP:0001249	Intellectual disability
OMIM:256000	NDUFV1	4723	HP:0001332	Dystonia
OMIM:256000	NDUFV1	4723	HP:0002311	Incoordination
OMIM:256000	NDUFV1	4723	HP:0100543	Cognitive impairment
OMIM:256000	NDUFV1	4723	HP:0001250	Seizures
OMIM:256000	NDUFV1	4723	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFV1	4723	HP:0000639	Nystagmus
OMIM:256000	NDUFV1	4723	HP:0000508	Ptosis
OMIM:256000	NDUFV1	4723	HP:0001508	Failure to thrive
OMIM:256000	NDUFV1	4723	HP:0003593	Infantile onset
OMIM:256000	NDUFV1	4723	HP:0002171	Gliosis
OMIM:256000	NDUFV1	4723	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFV1	4723	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFV1	4723	HP:0000486	Strabismus
OMIM:256000	NDUFV1	4723	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFV1	4723	HP:0001347	Hyperreflexia
OMIM:256000	NDUFV1	4723	HP:0007305	CNS demyelination
OMIM:256000	NDUFV1	4723	HP:0000998	Hypertrichosis
OMIM:256000	NDUFV1	4723	HP:0100022	Abnormality of movement
OMIM:256000	NDUFV1	4723	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFV1	4723	HP:0001260	Dysarthria
OMIM:256000	NDUFV1	4723	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFV1	4723	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFV1	4723	HP:0003812	Phenotypic variability
OMIM:256000	NDUFV1	4723	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFV1	4723	HP:0001251	Ataxia
OMIM:256000	NDUFV1	4723	HP:0000648	Optic atrophy
OMIM:256000	NDUFV1	4723	HP:0001257	Spasticity
OMIM:256000	NDUFV1	4723	HP:0001263	Global developmental delay
OMIM:256000	NDUFV1	4723	HP:0002151	Increased serum lactate
OMIM:256000	NDUFV1	4723	HP:0002878	Respiratory failure
OMIM:256000	NDUFS4	4724	HP:0003128	Lactic acidosis
OMIM:256000	NDUFS4	4724	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFS4	4724	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFS4	4724	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFS4	4724	HP:0001425	Heterogeneous
OMIM:256000	NDUFS4	4724	HP:0000712	Emotional lability
OMIM:256000	NDUFS4	4724	HP:0003676	Progressive
OMIM:256000	NDUFS4	4724	HP:0001249	Intellectual disability
OMIM:256000	NDUFS4	4724	HP:0001332	Dystonia
OMIM:256000	NDUFS4	4724	HP:0002311	Incoordination
OMIM:256000	NDUFS4	4724	HP:0100543	Cognitive impairment
OMIM:256000	NDUFS4	4724	HP:0001250	Seizures
OMIM:256000	NDUFS4	4724	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFS4	4724	HP:0000639	Nystagmus
OMIM:256000	NDUFS4	4724	HP:0000508	Ptosis
OMIM:256000	NDUFS4	4724	HP:0001508	Failure to thrive
OMIM:256000	NDUFS4	4724	HP:0003593	Infantile onset
OMIM:256000	NDUFS4	4724	HP:0002171	Gliosis
OMIM:256000	NDUFS4	4724	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFS4	4724	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFS4	4724	HP:0000486	Strabismus
OMIM:256000	NDUFS4	4724	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFS4	4724	HP:0001347	Hyperreflexia
OMIM:256000	NDUFS4	4724	HP:0007305	CNS demyelination
OMIM:256000	NDUFS4	4724	HP:0000998	Hypertrichosis
OMIM:256000	NDUFS4	4724	HP:0100022	Abnormality of movement
OMIM:256000	NDUFS4	4724	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFS4	4724	HP:0001260	Dysarthria
OMIM:256000	NDUFS4	4724	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFS4	4724	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFS4	4724	HP:0003812	Phenotypic variability
OMIM:256000	NDUFS4	4724	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFS4	4724	HP:0001251	Ataxia
OMIM:256000	NDUFS4	4724	HP:0000648	Optic atrophy
OMIM:256000	NDUFS4	4724	HP:0001257	Spasticity
OMIM:256000	NDUFS4	4724	HP:0001263	Global developmental delay
OMIM:256000	NDUFS4	4724	HP:0002151	Increased serum lactate
OMIM:256000	NDUFS4	4724	HP:0002878	Respiratory failure
OMIM:256000	SDHA	6389	HP:0003128	Lactic acidosis
OMIM:256000	SDHA	6389	HP:0002093	Respiratory insufficiency
OMIM:256000	SDHA	6389	HP:0000597	Ophthalmoparesis
OMIM:256000	SDHA	6389	HP:0001427	Mitochondrial inheritance
OMIM:256000	SDHA	6389	HP:0001425	Heterogeneous
OMIM:256000	SDHA	6389	HP:0000712	Emotional lability
OMIM:256000	SDHA	6389	HP:0003676	Progressive
OMIM:256000	SDHA	6389	HP:0001249	Intellectual disability
OMIM:256000	SDHA	6389	HP:0001332	Dystonia
OMIM:256000	SDHA	6389	HP:0002311	Incoordination
OMIM:256000	SDHA	6389	HP:0100543	Cognitive impairment
OMIM:256000	SDHA	6389	HP:0001250	Seizures
OMIM:256000	SDHA	6389	HP:0000580	Pigmentary retinopathy
OMIM:256000	SDHA	6389	HP:0000639	Nystagmus
OMIM:256000	SDHA	6389	HP:0000508	Ptosis
OMIM:256000	SDHA	6389	HP:0001508	Failure to thrive
OMIM:256000	SDHA	6389	HP:0003593	Infantile onset
OMIM:256000	SDHA	6389	HP:0002171	Gliosis
OMIM:256000	SDHA	6389	HP:0002793	Abnormal pattern of respiration
OMIM:256000	SDHA	6389	HP:0000407	Sensorineural hearing impairment
OMIM:256000	SDHA	6389	HP:0000486	Strabismus
OMIM:256000	SDHA	6389	HP:0002490	Increased CSF lactate
OMIM:256000	SDHA	6389	HP:0001347	Hyperreflexia
OMIM:256000	SDHA	6389	HP:0007305	CNS demyelination
OMIM:256000	SDHA	6389	HP:0000998	Hypertrichosis
OMIM:256000	SDHA	6389	HP:0100022	Abnormality of movement
OMIM:256000	SDHA	6389	HP:0001252	Muscular hypotonia
OMIM:256000	SDHA	6389	HP:0001260	Dysarthria
OMIM:256000	SDHA	6389	HP:0001404	Hepatocellular necrosis
OMIM:256000	SDHA	6389	HP:0000602	Ophthalmoplegia
OMIM:256000	SDHA	6389	HP:0003812	Phenotypic variability
OMIM:256000	SDHA	6389	HP:0000007	Autosomal recessive inheritance
OMIM:256000	SDHA	6389	HP:0001251	Ataxia
OMIM:256000	SDHA	6389	HP:0000648	Optic atrophy
OMIM:256000	SDHA	6389	HP:0001257	Spasticity
OMIM:256000	SDHA	6389	HP:0001263	Global developmental delay
OMIM:256000	SDHA	6389	HP:0002151	Increased serum lactate
OMIM:256000	SDHA	6389	HP:0002878	Respiratory failure
OMIM:256000	ND1	4535	HP:0003128	Lactic acidosis
OMIM:256000	ND1	4535	HP:0002093	Respiratory insufficiency
OMIM:256000	ND1	4535	HP:0000597	Ophthalmoparesis
OMIM:256000	ND1	4535	HP:0001427	Mitochondrial inheritance
OMIM:256000	ND1	4535	HP:0001425	Heterogeneous
OMIM:256000	ND1	4535	HP:0000712	Emotional lability
OMIM:256000	ND1	4535	HP:0003676	Progressive
OMIM:256000	ND1	4535	HP:0001249	Intellectual disability
OMIM:256000	ND1	4535	HP:0001332	Dystonia
OMIM:256000	ND1	4535	HP:0002311	Incoordination
OMIM:256000	ND1	4535	HP:0100543	Cognitive impairment
OMIM:256000	ND1	4535	HP:0001250	Seizures
OMIM:256000	ND1	4535	HP:0000580	Pigmentary retinopathy
OMIM:256000	ND1	4535	HP:0000639	Nystagmus
OMIM:256000	ND1	4535	HP:0000508	Ptosis
OMIM:256000	ND1	4535	HP:0001508	Failure to thrive
OMIM:256000	ND1	4535	HP:0003593	Infantile onset
OMIM:256000	ND1	4535	HP:0002171	Gliosis
OMIM:256000	ND1	4535	HP:0002793	Abnormal pattern of respiration
OMIM:256000	ND1	4535	HP:0000407	Sensorineural hearing impairment
OMIM:256000	ND1	4535	HP:0000486	Strabismus
OMIM:256000	ND1	4535	HP:0002490	Increased CSF lactate
OMIM:256000	ND1	4535	HP:0001347	Hyperreflexia
OMIM:256000	ND1	4535	HP:0007305	CNS demyelination
OMIM:256000	ND1	4535	HP:0000998	Hypertrichosis
OMIM:256000	ND1	4535	HP:0100022	Abnormality of movement
OMIM:256000	ND1	4535	HP:0001252	Muscular hypotonia
OMIM:256000	ND1	4535	HP:0001260	Dysarthria
OMIM:256000	ND1	4535	HP:0001404	Hepatocellular necrosis
OMIM:256000	ND1	4535	HP:0000602	Ophthalmoplegia
OMIM:256000	ND1	4535	HP:0003812	Phenotypic variability
OMIM:256000	ND1	4535	HP:0000007	Autosomal recessive inheritance
OMIM:256000	ND1	4535	HP:0001251	Ataxia
OMIM:256000	ND1	4535	HP:0000648	Optic atrophy
OMIM:256000	ND1	4535	HP:0001257	Spasticity
OMIM:256000	ND1	4535	HP:0001263	Global developmental delay
OMIM:256000	ND1	4535	HP:0002151	Increased serum lactate
OMIM:256000	ND1	4535	HP:0002878	Respiratory failure
OMIM:256000	NDUFS8	4728	HP:0003128	Lactic acidosis
OMIM:256000	NDUFS8	4728	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFS8	4728	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFS8	4728	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFS8	4728	HP:0001425	Heterogeneous
OMIM:256000	NDUFS8	4728	HP:0000712	Emotional lability
OMIM:256000	NDUFS8	4728	HP:0003676	Progressive
OMIM:256000	NDUFS8	4728	HP:0001249	Intellectual disability
OMIM:256000	NDUFS8	4728	HP:0001332	Dystonia
OMIM:256000	NDUFS8	4728	HP:0002311	Incoordination
OMIM:256000	NDUFS8	4728	HP:0100543	Cognitive impairment
OMIM:256000	NDUFS8	4728	HP:0001250	Seizures
OMIM:256000	NDUFS8	4728	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFS8	4728	HP:0000639	Nystagmus
OMIM:256000	NDUFS8	4728	HP:0000508	Ptosis
OMIM:256000	NDUFS8	4728	HP:0001508	Failure to thrive
OMIM:256000	NDUFS8	4728	HP:0003593	Infantile onset
OMIM:256000	NDUFS8	4728	HP:0002171	Gliosis
OMIM:256000	NDUFS8	4728	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFS8	4728	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFS8	4728	HP:0000486	Strabismus
OMIM:256000	NDUFS8	4728	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFS8	4728	HP:0001347	Hyperreflexia
OMIM:256000	NDUFS8	4728	HP:0007305	CNS demyelination
OMIM:256000	NDUFS8	4728	HP:0000998	Hypertrichosis
OMIM:256000	NDUFS8	4728	HP:0100022	Abnormality of movement
OMIM:256000	NDUFS8	4728	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFS8	4728	HP:0001260	Dysarthria
OMIM:256000	NDUFS8	4728	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFS8	4728	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFS8	4728	HP:0003812	Phenotypic variability
OMIM:256000	NDUFS8	4728	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFS8	4728	HP:0001251	Ataxia
OMIM:256000	NDUFS8	4728	HP:0000648	Optic atrophy
OMIM:256000	NDUFS8	4728	HP:0001257	Spasticity
OMIM:256000	NDUFS8	4728	HP:0001263	Global developmental delay
OMIM:256000	NDUFS8	4728	HP:0002151	Increased serum lactate
OMIM:256000	NDUFS8	4728	HP:0002878	Respiratory failure
OMIM:256000	ND2	4536	HP:0003128	Lactic acidosis
OMIM:256000	ND2	4536	HP:0002093	Respiratory insufficiency
OMIM:256000	ND2	4536	HP:0000597	Ophthalmoparesis
OMIM:256000	ND2	4536	HP:0001427	Mitochondrial inheritance
OMIM:256000	ND2	4536	HP:0001425	Heterogeneous
OMIM:256000	ND2	4536	HP:0000712	Emotional lability
OMIM:256000	ND2	4536	HP:0003676	Progressive
OMIM:256000	ND2	4536	HP:0001249	Intellectual disability
OMIM:256000	ND2	4536	HP:0001332	Dystonia
OMIM:256000	ND2	4536	HP:0002311	Incoordination
OMIM:256000	ND2	4536	HP:0100543	Cognitive impairment
OMIM:256000	ND2	4536	HP:0001250	Seizures
OMIM:256000	ND2	4536	HP:0000580	Pigmentary retinopathy
OMIM:256000	ND2	4536	HP:0000639	Nystagmus
OMIM:256000	ND2	4536	HP:0000508	Ptosis
OMIM:256000	ND2	4536	HP:0001508	Failure to thrive
OMIM:256000	ND2	4536	HP:0003593	Infantile onset
OMIM:256000	ND2	4536	HP:0002171	Gliosis
OMIM:256000	ND2	4536	HP:0002793	Abnormal pattern of respiration
OMIM:256000	ND2	4536	HP:0000407	Sensorineural hearing impairment
OMIM:256000	ND2	4536	HP:0000486	Strabismus
OMIM:256000	ND2	4536	HP:0002490	Increased CSF lactate
OMIM:256000	ND2	4536	HP:0001347	Hyperreflexia
OMIM:256000	ND2	4536	HP:0007305	CNS demyelination
OMIM:256000	ND2	4536	HP:0000998	Hypertrichosis
OMIM:256000	ND2	4536	HP:0100022	Abnormality of movement
OMIM:256000	ND2	4536	HP:0001252	Muscular hypotonia
OMIM:256000	ND2	4536	HP:0001260	Dysarthria
OMIM:256000	ND2	4536	HP:0001404	Hepatocellular necrosis
OMIM:256000	ND2	4536	HP:0000602	Ophthalmoplegia
OMIM:256000	ND2	4536	HP:0003812	Phenotypic variability
OMIM:256000	ND2	4536	HP:0000007	Autosomal recessive inheritance
OMIM:256000	ND2	4536	HP:0001251	Ataxia
OMIM:256000	ND2	4536	HP:0000648	Optic atrophy
OMIM:256000	ND2	4536	HP:0001257	Spasticity
OMIM:256000	ND2	4536	HP:0001263	Global developmental delay
OMIM:256000	ND2	4536	HP:0002151	Increased serum lactate
OMIM:256000	ND2	4536	HP:0002878	Respiratory failure
OMIM:256000	ND3	4537	HP:0003128	Lactic acidosis
OMIM:256000	ND3	4537	HP:0002093	Respiratory insufficiency
OMIM:256000	ND3	4537	HP:0000597	Ophthalmoparesis
OMIM:256000	ND3	4537	HP:0001427	Mitochondrial inheritance
OMIM:256000	ND3	4537	HP:0001425	Heterogeneous
OMIM:256000	ND3	4537	HP:0000712	Emotional lability
OMIM:256000	ND3	4537	HP:0003676	Progressive
OMIM:256000	ND3	4537	HP:0001249	Intellectual disability
OMIM:256000	ND3	4537	HP:0001332	Dystonia
OMIM:256000	ND3	4537	HP:0002311	Incoordination
OMIM:256000	ND3	4537	HP:0100543	Cognitive impairment
OMIM:256000	ND3	4537	HP:0001250	Seizures
OMIM:256000	ND3	4537	HP:0000580	Pigmentary retinopathy
OMIM:256000	ND3	4537	HP:0000639	Nystagmus
OMIM:256000	ND3	4537	HP:0000508	Ptosis
OMIM:256000	ND3	4537	HP:0001508	Failure to thrive
OMIM:256000	ND3	4537	HP:0003593	Infantile onset
OMIM:256000	ND3	4537	HP:0002171	Gliosis
OMIM:256000	ND3	4537	HP:0002793	Abnormal pattern of respiration
OMIM:256000	ND3	4537	HP:0000407	Sensorineural hearing impairment
OMIM:256000	ND3	4537	HP:0000486	Strabismus
OMIM:256000	ND3	4537	HP:0002490	Increased CSF lactate
OMIM:256000	ND3	4537	HP:0001347	Hyperreflexia
OMIM:256000	ND3	4537	HP:0007305	CNS demyelination
OMIM:256000	ND3	4537	HP:0000998	Hypertrichosis
OMIM:256000	ND3	4537	HP:0100022	Abnormality of movement
OMIM:256000	ND3	4537	HP:0001252	Muscular hypotonia
OMIM:256000	ND3	4537	HP:0001260	Dysarthria
OMIM:256000	ND3	4537	HP:0001404	Hepatocellular necrosis
OMIM:256000	ND3	4537	HP:0000602	Ophthalmoplegia
OMIM:256000	ND3	4537	HP:0003812	Phenotypic variability
OMIM:256000	ND3	4537	HP:0000007	Autosomal recessive inheritance
OMIM:256000	ND3	4537	HP:0001251	Ataxia
OMIM:256000	ND3	4537	HP:0000648	Optic atrophy
OMIM:256000	ND3	4537	HP:0001257	Spasticity
OMIM:256000	ND3	4537	HP:0001263	Global developmental delay
OMIM:256000	ND3	4537	HP:0002151	Increased serum lactate
OMIM:256000	ND3	4537	HP:0002878	Respiratory failure
OMIM:256000	NDUFV2	4729	HP:0003128	Lactic acidosis
OMIM:256000	NDUFV2	4729	HP:0002093	Respiratory insufficiency
OMIM:256000	NDUFV2	4729	HP:0000597	Ophthalmoparesis
OMIM:256000	NDUFV2	4729	HP:0001427	Mitochondrial inheritance
OMIM:256000	NDUFV2	4729	HP:0001425	Heterogeneous
OMIM:256000	NDUFV2	4729	HP:0000712	Emotional lability
OMIM:256000	NDUFV2	4729	HP:0003676	Progressive
OMIM:256000	NDUFV2	4729	HP:0001249	Intellectual disability
OMIM:256000	NDUFV2	4729	HP:0001332	Dystonia
OMIM:256000	NDUFV2	4729	HP:0002311	Incoordination
OMIM:256000	NDUFV2	4729	HP:0100543	Cognitive impairment
OMIM:256000	NDUFV2	4729	HP:0001250	Seizures
OMIM:256000	NDUFV2	4729	HP:0000580	Pigmentary retinopathy
OMIM:256000	NDUFV2	4729	HP:0000639	Nystagmus
OMIM:256000	NDUFV2	4729	HP:0000508	Ptosis
OMIM:256000	NDUFV2	4729	HP:0001508	Failure to thrive
OMIM:256000	NDUFV2	4729	HP:0003593	Infantile onset
OMIM:256000	NDUFV2	4729	HP:0002171	Gliosis
OMIM:256000	NDUFV2	4729	HP:0002793	Abnormal pattern of respiration
OMIM:256000	NDUFV2	4729	HP:0000407	Sensorineural hearing impairment
OMIM:256000	NDUFV2	4729	HP:0000486	Strabismus
OMIM:256000	NDUFV2	4729	HP:0002490	Increased CSF lactate
OMIM:256000	NDUFV2	4729	HP:0001347	Hyperreflexia
OMIM:256000	NDUFV2	4729	HP:0007305	CNS demyelination
OMIM:256000	NDUFV2	4729	HP:0000998	Hypertrichosis
OMIM:256000	NDUFV2	4729	HP:0100022	Abnormality of movement
OMIM:256000	NDUFV2	4729	HP:0001252	Muscular hypotonia
OMIM:256000	NDUFV2	4729	HP:0001260	Dysarthria
OMIM:256000	NDUFV2	4729	HP:0001404	Hepatocellular necrosis
OMIM:256000	NDUFV2	4729	HP:0000602	Ophthalmoplegia
OMIM:256000	NDUFV2	4729	HP:0003812	Phenotypic variability
OMIM:256000	NDUFV2	4729	HP:0000007	Autosomal recessive inheritance
OMIM:256000	NDUFV2	4729	HP:0001251	Ataxia
OMIM:256000	NDUFV2	4729	HP:0000648	Optic atrophy
OMIM:256000	NDUFV2	4729	HP:0001257	Spasticity
OMIM:256000	NDUFV2	4729	HP:0001263	Global developmental delay
OMIM:256000	NDUFV2	4729	HP:0002151	Increased serum lactate
OMIM:256000	NDUFV2	4729	HP:0002878	Respiratory failure
OMIM:256000	ND4	4538	HP:0003128	Lactic acidosis
OMIM:256000	ND4	4538	HP:0002093	Respiratory insufficiency
OMIM:256000	ND4	4538	HP:0000597	Ophthalmoparesis
OMIM:256000	ND4	4538	HP:0001427	Mitochondrial inheritance
OMIM:256000	ND4	4538	HP:0001425	Heterogeneous
OMIM:256000	ND4	4538	HP:0000712	Emotional lability
OMIM:256000	ND4	4538	HP:0003676	Progressive
OMIM:256000	ND4	4538	HP:0001249	Intellectual disability
OMIM:256000	ND4	4538	HP:0001332	Dystonia
OMIM:256000	ND4	4538	HP:0002311	Incoordination
OMIM:256000	ND4	4538	HP:0100543	Cognitive impairment
OMIM:256000	ND4	4538	HP:0001250	Seizures
OMIM:256000	ND4	4538	HP:0000580	Pigmentary retinopathy
OMIM:256000	ND4	4538	HP:0000639	Nystagmus
OMIM:256000	ND4	4538	HP:0000508	Ptosis
OMIM:256000	ND4	4538	HP:0001508	Failure to thrive
OMIM:256000	ND4	4538	HP:0003593	Infantile onset
OMIM:256000	ND4	4538	HP:0002171	Gliosis
OMIM:256000	ND4	4538	HP:0002793	Abnormal pattern of respiration
OMIM:256000	ND4	4538	HP:0000407	Sensorineural hearing impairment
OMIM:256000	ND4	4538	HP:0000486	Strabismus
OMIM:256000	ND4	4538	HP:0002490	Increased CSF lactate
OMIM:256000	ND4	4538	HP:0001347	Hyperreflexia
OMIM:256000	ND4	4538	HP:0007305	CNS demyelination
OMIM:256000	ND4	4538	HP:0000998	Hypertrichosis
OMIM:256000	ND4	4538	HP:0100022	Abnormality of movement
OMIM:256000	ND4	4538	HP:0001252	Muscular hypotonia
OMIM:256000	ND4	4538	HP:0001260	Dysarthria
OMIM:256000	ND4	4538	HP:0001404	Hepatocellular necrosis
OMIM:256000	ND4	4538	HP:0000602	Ophthalmoplegia
OMIM:256000	ND4	4538	HP:0003812	Phenotypic variability
OMIM:256000	ND4	4538	HP:0000007	Autosomal recessive inheritance
OMIM:256000	ND4	4538	HP:0001251	Ataxia
OMIM:256000	ND4	4538	HP:0000648	Optic atrophy
OMIM:256000	ND4	4538	HP:0001257	Spasticity
OMIM:256000	ND4	4538	HP:0001263	Global developmental delay
OMIM:256000	ND4	4538	HP:0002151	Increased serum lactate
OMIM:256000	ND4	4538	HP:0002878	Respiratory failure
OMIM:256000	ND5	4540	HP:0003128	Lactic acidosis
OMIM:256000	ND5	4540	HP:0002093	Respiratory insufficiency
OMIM:256000	ND5	4540	HP:0000597	Ophthalmoparesis
OMIM:256000	ND5	4540	HP:0001427	Mitochondrial inheritance
OMIM:256000	ND5	4540	HP:0001425	Heterogeneous
OMIM:256000	ND5	4540	HP:0000712	Emotional lability
OMIM:256000	ND5	4540	HP:0003676	Progressive
OMIM:256000	ND5	4540	HP:0001249	Intellectual disability
OMIM:256000	ND5	4540	HP:0001332	Dystonia
OMIM:256000	ND5	4540	HP:0002311	Incoordination
OMIM:256000	ND5	4540	HP:0100543	Cognitive impairment
OMIM:256000	ND5	4540	HP:0001250	Seizures
OMIM:256000	ND5	4540	HP:0000580	Pigmentary retinopathy
OMIM:256000	ND5	4540	HP:0000639	Nystagmus
OMIM:256000	ND5	4540	HP:0000508	Ptosis
OMIM:256000	ND5	4540	HP:0001508	Failure to thrive
OMIM:256000	ND5	4540	HP:0003593	Infantile onset
OMIM:256000	ND5	4540	HP:0002171	Gliosis
OMIM:256000	ND5	4540	HP:0002793	Abnormal pattern of respiration
OMIM:256000	ND5	4540	HP:0000407	Sensorineural hearing impairment
OMIM:256000	ND5	4540	HP:0000486	Strabismus
OMIM:256000	ND5	4540	HP:0002490	Increased CSF lactate
OMIM:256000	ND5	4540	HP:0001347	Hyperreflexia
OMIM:256000	ND5	4540	HP:0007305	CNS demyelination
OMIM:256000	ND5	4540	HP:0000998	Hypertrichosis
OMIM:256000	ND5	4540	HP:0100022	Abnormality of movement
OMIM:256000	ND5	4540	HP:0001252	Muscular hypotonia
OMIM:256000	ND5	4540	HP:0001260	Dysarthria
OMIM:256000	ND5	4540	HP:0001404	Hepatocellular necrosis
OMIM:256000	ND5	4540	HP:0000602	Ophthalmoplegia
OMIM:256000	ND5	4540	HP:0003812	Phenotypic variability
OMIM:256000	ND5	4540	HP:0000007	Autosomal recessive inheritance
OMIM:256000	ND5	4540	HP:0001251	Ataxia
OMIM:256000	ND5	4540	HP:0000648	Optic atrophy
OMIM:256000	ND5	4540	HP:0001257	Spasticity
OMIM:256000	ND5	4540	HP:0001263	Global developmental delay
OMIM:256000	ND5	4540	HP:0002151	Increased serum lactate
OMIM:256000	ND5	4540	HP:0002878	Respiratory failure
OMIM:256000	ND6	4541	HP:0003128	Lactic acidosis
OMIM:256000	ND6	4541	HP:0002093	Respiratory insufficiency
OMIM:256000	ND6	4541	HP:0000597	Ophthalmoparesis
OMIM:256000	ND6	4541	HP:0001427	Mitochondrial inheritance
OMIM:256000	ND6	4541	HP:0001425	Heterogeneous
OMIM:256000	ND6	4541	HP:0000712	Emotional lability
OMIM:256000	ND6	4541	HP:0003676	Progressive
OMIM:256000	ND6	4541	HP:0001249	Intellectual disability
OMIM:256000	ND6	4541	HP:0001332	Dystonia
OMIM:256000	ND6	4541	HP:0002311	Incoordination
OMIM:256000	ND6	4541	HP:0100543	Cognitive impairment
OMIM:256000	ND6	4541	HP:0001250	Seizures
OMIM:256000	ND6	4541	HP:0000580	Pigmentary retinopathy
OMIM:256000	ND6	4541	HP:0000639	Nystagmus
OMIM:256000	ND6	4541	HP:0000508	Ptosis
OMIM:256000	ND6	4541	HP:0001508	Failure to thrive
OMIM:256000	ND6	4541	HP:0003593	Infantile onset
OMIM:256000	ND6	4541	HP:0002171	Gliosis
OMIM:256000	ND6	4541	HP:0002793	Abnormal pattern of respiration
OMIM:256000	ND6	4541	HP:0000407	Sensorineural hearing impairment
OMIM:256000	ND6	4541	HP:0000486	Strabismus
OMIM:256000	ND6	4541	HP:0002490	Increased CSF lactate
OMIM:256000	ND6	4541	HP:0001347	Hyperreflexia
OMIM:256000	ND6	4541	HP:0007305	CNS demyelination
OMIM:256000	ND6	4541	HP:0000998	Hypertrichosis
OMIM:256000	ND6	4541	HP:0100022	Abnormality of movement
OMIM:256000	ND6	4541	HP:0001252	Muscular hypotonia
OMIM:256000	ND6	4541	HP:0001260	Dysarthria
OMIM:256000	ND6	4541	HP:0001404	Hepatocellular necrosis
OMIM:256000	ND6	4541	HP:0000602	Ophthalmoplegia
OMIM:256000	ND6	4541	HP:0003812	Phenotypic variability
OMIM:256000	ND6	4541	HP:0000007	Autosomal recessive inheritance
OMIM:256000	ND6	4541	HP:0001251	Ataxia
OMIM:256000	ND6	4541	HP:0000648	Optic atrophy
OMIM:256000	ND6	4541	HP:0001257	Spasticity
OMIM:256000	ND6	4541	HP:0001263	Global developmental delay
OMIM:256000	ND6	4541	HP:0002151	Increased serum lactate
OMIM:256000	ND6	4541	HP:0002878	Respiratory failure
OMIM:256000	MTFMT	123263	HP:0003128	Lactic acidosis
OMIM:256000	MTFMT	123263	HP:0002093	Respiratory insufficiency
OMIM:256000	MTFMT	123263	HP:0000597	Ophthalmoparesis
OMIM:256000	MTFMT	123263	HP:0001427	Mitochondrial inheritance
OMIM:256000	MTFMT	123263	HP:0001425	Heterogeneous
OMIM:256000	MTFMT	123263	HP:0000712	Emotional lability
OMIM:256000	MTFMT	123263	HP:0003676	Progressive
OMIM:256000	MTFMT	123263	HP:0001249	Intellectual disability
OMIM:256000	MTFMT	123263	HP:0001332	Dystonia
OMIM:256000	MTFMT	123263	HP:0002311	Incoordination
OMIM:256000	MTFMT	123263	HP:0100543	Cognitive impairment
OMIM:256000	MTFMT	123263	HP:0001250	Seizures
OMIM:256000	MTFMT	123263	HP:0000580	Pigmentary retinopathy
OMIM:256000	MTFMT	123263	HP:0000639	Nystagmus
OMIM:256000	MTFMT	123263	HP:0000508	Ptosis
OMIM:256000	MTFMT	123263	HP:0001508	Failure to thrive
OMIM:256000	MTFMT	123263	HP:0003593	Infantile onset
OMIM:256000	MTFMT	123263	HP:0002171	Gliosis
OMIM:256000	MTFMT	123263	HP:0002793	Abnormal pattern of respiration
OMIM:256000	MTFMT	123263	HP:0000407	Sensorineural hearing impairment
OMIM:256000	MTFMT	123263	HP:0000486	Strabismus
OMIM:256000	MTFMT	123263	HP:0002490	Increased CSF lactate
OMIM:256000	MTFMT	123263	HP:0001347	Hyperreflexia
OMIM:256000	MTFMT	123263	HP:0007305	CNS demyelination
OMIM:256000	MTFMT	123263	HP:0000998	Hypertrichosis
OMIM:256000	MTFMT	123263	HP:0100022	Abnormality of movement
OMIM:256000	MTFMT	123263	HP:0001252	Muscular hypotonia
OMIM:256000	MTFMT	123263	HP:0001260	Dysarthria
OMIM:256000	MTFMT	123263	HP:0001404	Hepatocellular necrosis
OMIM:256000	MTFMT	123263	HP:0000602	Ophthalmoplegia
OMIM:256000	MTFMT	123263	HP:0003812	Phenotypic variability
OMIM:256000	MTFMT	123263	HP:0000007	Autosomal recessive inheritance
OMIM:256000	MTFMT	123263	HP:0001251	Ataxia
OMIM:256000	MTFMT	123263	HP:0000648	Optic atrophy
OMIM:256000	MTFMT	123263	HP:0001257	Spasticity
OMIM:256000	MTFMT	123263	HP:0001263	Global developmental delay
OMIM:256000	MTFMT	123263	HP:0002151	Increased serum lactate
OMIM:256000	MTFMT	123263	HP:0002878	Respiratory failure
OMIM:224750	WNT10A	80326	HP:0001596	Alopecia
OMIM:224750	WNT10A	80326	HP:0000982	Palmoplantar keratoderma
OMIM:224750	WNT10A	80326	HP:0001792	Small nail
OMIM:224750	WNT10A	80326	HP:0000478	Abnormality of the eye
OMIM:224750	WNT10A	80326	HP:0002860	Squamous cell carcinoma
OMIM:224750	WNT10A	80326	HP:0008069	Neoplasm of the skin
OMIM:224750	WNT10A	80326	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:224750	WNT10A	80326	HP:0000007	Autosomal recessive inheritance
OMIM:224750	WNT10A	80326	HP:0001816	Thin nail
OMIM:224750	WNT10A	80326	HP:0000668	Hypodontia
OMIM:224750	WNT10A	80326	HP:0100615	Ovarian neoplasm
OMIM:224750	WNT10A	80326	HP:0001806	Onycholysis
OMIM:224750	WNT10A	80326	HP:0000968	Ectodermal dysplasia
OMIM:224750	WNT10A	80326	HP:0009804	Reduced number of teeth
OMIM:608390	SCN4A	6329	HP:0000343	Long philtrum
OMIM:608390	SCN4A	6329	HP:0003198	Myopathy
OMIM:608390	SCN4A	6329	HP:0008872	Feeding difficulties in infancy
OMIM:608390	SCN4A	6329	HP:0003307	Hyperlordosis
OMIM:608390	SCN4A	6329	HP:0000597	Ophthalmoparesis
OMIM:608390	SCN4A	6329	HP:0002099	Asthma
OMIM:608390	SCN4A	6329	HP:0100749	Chest pain
OMIM:608390	SCN4A	6329	HP:0003457	EMG abnormality
OMIM:608390	SCN4A	6329	HP:0000470	Short neck
OMIM:608390	SCN4A	6329	HP:0002093	Respiratory insufficiency
OMIM:608390	SCN4A	6329	HP:0001324	Muscle weakness
OMIM:608390	SCN4A	6329	HP:0003712	Skeletal muscle hypertrophy
OMIM:608390	SCN4A	6329	HP:0000347	Micrognathia
OMIM:608390	SCN4A	6329	HP:0001288	Gait disturbance
OMIM:608390	SCN4A	6329	HP:0003401	Paresthesia
OMIM:608390	SCN4A	6329	HP:0001371	Flexion contracture
OMIM:608390	SCN4A	6329	HP:0002153	Hyperkalemia
OMIM:608390	SCN4A	6329	HP:0100543	Cognitive impairment
OMIM:608390	SCN4A	6329	HP:0003326	Myalgia
OMIM:608390	SCN4A	6329	HP:0001608	Abnormality of the voice
OMIM:608390	SCN4A	6329	HP:0003202	Skeletal muscle atrophy
OMIM:608390	SCN4A	6329	HP:0001376	Limitation of joint mobility
OMIM:608390	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:608390	SCN4A	6329	HP:0000821	Hypothyroidism
OMIM:608390	SCN4A	6329	HP:0000366	Abnormality of the nose
OMIM:608390	SCN4A	6329	HP:0000286	Epicanthus
OMIM:608390	SCN4A	6329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608390	SCN4A	6329	HP:0001276	Hypertonia
OMIM:608390	SCN4A	6329	HP:0004322	Short stature
OMIM:616457	CAD	790	HP:0001250	Seizures
OMIM:616457	CAD	790	HP:0001252	Muscular hypotonia
OMIM:616457	CAD	790	HP:0001987	Hyperammonemia
OMIM:616457	CAD	790	HP:0001263	Global developmental delay
OMIM:146590	KRT1	3848	HP:0008064	Ichthyosis
OMIM:146590	KRT1	3848	HP:0000962	Hyperkeratosis
OMIM:146590	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:146590	KRT1	3848	HP:0001231	Abnormality of the fingernails
OMIM:146590	KRT1	3848	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:146590	KRT1	3848	HP:0200042	Skin ulcer
OMIM:146590	KRT1	3848	HP:0001371	Flexion contracture
OMIM:210210	MCCC2	64087	HP:0003108	Hyperglycinuria
OMIM:210210	MCCC2	64087	HP:0003202	Skeletal muscle atrophy
OMIM:210210	MCCC2	64087	HP:0003353	Propionyl-CoA carboxylase deficiency
OMIM:210210	MCCC2	64087	HP:0001993	Ketoacidosis
OMIM:210210	MCCC2	64087	HP:0001252	Muscular hypotonia
OMIM:210210	MCCC2	64087	HP:0000007	Autosomal recessive inheritance
OMIM:210210	MCCC2	64087	HP:0001051	Seborrheic dermatitis
OMIM:210210	MCCC2	64087	HP:0001596	Alopecia
OMIM:210210	MCCC2	64087	HP:0001992	Organic aciduria
OMIM:210210	MCCC1	56922	HP:0003108	Hyperglycinuria
OMIM:210210	MCCC1	56922	HP:0003202	Skeletal muscle atrophy
OMIM:210210	MCCC1	56922	HP:0003353	Propionyl-CoA carboxylase deficiency
OMIM:210210	MCCC1	56922	HP:0001993	Ketoacidosis
OMIM:210210	MCCC1	56922	HP:0001252	Muscular hypotonia
OMIM:210210	MCCC1	56922	HP:0000007	Autosomal recessive inheritance
OMIM:210210	MCCC1	56922	HP:0001051	Seborrheic dermatitis
OMIM:210210	MCCC1	56922	HP:0001596	Alopecia
OMIM:210210	MCCC1	56922	HP:0001992	Organic aciduria
OMIM:614025	LIPC	3990	HP:0000007	Autosomal recessive inheritance
OMIM:614025	LIPC	3990	HP:0001013	Eruptive xanthomas
OMIM:614617	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:614617	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:614617	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:614617	BSND	7809	HP:0000365	Hearing impairment
OMIM:614617	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:614617	ESPN	83715	HP:0000365	Hearing impairment
OMIM:614617	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:614617	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:614617	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:614617	OTOA	146183	HP:0000365	Hearing impairment
OMIM:614617	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:614617	GJA1	2697	HP:0000365	Hearing impairment
OMIM:614617	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:614617	MET	4233	HP:0000365	Hearing impairment
OMIM:614617	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:614617	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:614617	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:614617	HGF	3082	HP:0000365	Hearing impairment
OMIM:614617	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:614617	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:614617	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:614617	EPS8	2059	HP:0000365	Hearing impairment
OMIM:614617	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:614617	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:614617	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:614617	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:614617	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:614617	GJB2	2706	HP:0000365	Hearing impairment
OMIM:614617	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:614617	GJB3	2707	HP:0000365	Hearing impairment
OMIM:614617	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:614617	CABP2	51475	HP:0000365	Hearing impairment
OMIM:614617	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:614617	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:614617	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:614617	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:614617	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:614617	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:614617	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614617	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614617	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:614617	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:614617	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:614617	KARS	3735	HP:0000365	Hearing impairment
OMIM:614617	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:614617	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:614617	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:614617	TMC1	117531	HP:0000365	Hearing impairment
OMIM:614617	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:614617	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:614617	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:614617	OTOF	9381	HP:0000365	Hearing impairment
OMIM:614617	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614617	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614617	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:614617	TMIE	259236	HP:0000365	Hearing impairment
OMIM:614617	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:614617	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:614617	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:614617	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:614617	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:614617	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:614617	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:614617	TPRN	286262	HP:0000365	Hearing impairment
OMIM:614617	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:614617	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:614617	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:614617	GJB6	10804	HP:0000365	Hearing impairment
OMIM:614617	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:614617	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:614617	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:614617	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:614617	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:614617	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:614617	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:614617	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:614617	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614617	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614617	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:614617	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:614617	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:614617	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:614617	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:614617	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:614617	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:614617	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:614617	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:614617	CDH23	64072	HP:0000365	Hearing impairment
OMIM:614617	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:614617	RDX	5962	HP:0000365	Hearing impairment
OMIM:614617	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:614617	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:614617	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:614617	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:614617	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:614617	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:614617	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:614617	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:614617	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:614617	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:614617	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:614617	STRC	161497	HP:0000365	Hearing impairment
OMIM:614617	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614617	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:614617	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:614617	TECTA	7007	HP:0000365	Hearing impairment
OMIM:614617	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:614617	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:614617	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:614617	USH1C	10083	HP:0000365	Hearing impairment
OMIM:614617	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:614617	ADCY1	107	HP:0000365	Hearing impairment
OMIM:614617	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:614617	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:614617	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:614617	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:614617	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:614617	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:614617	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:614617	OTOG	340990	HP:0000365	Hearing impairment
OMIM:300018	DMRT1	1761	HP:0012245	Sex reversal
OMIM:300018	DMRT1	1761	HP:0001417	X-linked inheritance
OMIM:300018	WT1	7490	HP:0012245	Sex reversal
OMIM:300018	WT1	7490	HP:0001417	X-linked inheritance
OMIM:300018	GATA4	2626	HP:0012245	Sex reversal
OMIM:300018	GATA4	2626	HP:0001417	X-linked inheritance
OMIM:300018	SOX9	6662	HP:0012245	Sex reversal
OMIM:300018	SOX9	6662	HP:0001417	X-linked inheritance
OMIM:300018	SRY	6736	HP:0012245	Sex reversal
OMIM:300018	SRY	6736	HP:0001417	X-linked inheritance
OMIM:300018	NR5A1	2516	HP:0012245	Sex reversal
OMIM:300018	NR5A1	2516	HP:0001417	X-linked inheritance
OMIM:300018	MAP3K1	4214	HP:0012245	Sex reversal
OMIM:300018	MAP3K1	4214	HP:0001417	X-linked inheritance
OMIM:300018	ZFPM2	23414	HP:0012245	Sex reversal
OMIM:300018	ZFPM2	23414	HP:0001417	X-linked inheritance
OMIM:300018	CBX2	84733	HP:0012245	Sex reversal
OMIM:300018	CBX2	84733	HP:0001417	X-linked inheritance
OMIM:300018	WWOX	51741	HP:0012245	Sex reversal
OMIM:300018	WWOX	51741	HP:0001417	X-linked inheritance
OMIM:300018	VAMP7	6845	HP:0012245	Sex reversal
OMIM:300018	VAMP7	6845	HP:0001417	X-linked inheritance
OMIM:300018	NR0B1	190	HP:0012245	Sex reversal
OMIM:300018	NR0B1	190	HP:0001417	X-linked inheritance
OMIM:300018	DHH	50846	HP:0012245	Sex reversal
OMIM:300018	DHH	50846	HP:0001417	X-linked inheritance
OMIM:612626	MCTP2	55784	HP:0003577	Congenital onset
OMIM:612626	MCTP2	55784	HP:0001518	Small for gestational age
OMIM:612626	MCTP2	55784	HP:0003745	Sporadic
OMIM:612626	MCTP2	55784	HP:0004322	Short stature
OMIM:612626	MCTP2	55784	HP:0000347	Micrognathia
OMIM:612626	MCTP2	55784	HP:0000486	Strabismus
OMIM:612626	MCTP2	55784	HP:0001263	Global developmental delay
OMIM:612626	MCTP2	55784	HP:0000369	Low-set ears
OMIM:612626	MCTP2	55784	HP:0001508	Failure to thrive
OMIM:612626	MCTP2	55784	HP:0001671	Abnormality of the cardiac septa
OMIM:612626	MCTP2	55784	HP:0001511	Intrauterine growth retardation
OMIM:612626	MCTP2	55784	HP:0005819	Short middle phalanx of finger
OMIM:612626	MCTP2	55784	HP:0000252	Microcephaly
OMIM:612626	MCTP2	55784	HP:0001156	Brachydactyly syndrome
OMIM:612626	MCTP2	55784	HP:0000581	Blepharophimosis
OMIM:612626	MCTP2	55784	HP:0000431	Wide nasal bridge
OMIM:612626	MCTP2	55784	HP:0001249	Intellectual disability
OMIM:612626	MCTP2	55784	HP:0000047	Hypospadias
OMIM:612626	MCTP2	55784	HP:0000325	Triangular face
OMIM:612626	MCTP2	55784	HP:0001762	Talipes equinovarus
OMIM:612626	MCTP2	55784	HP:0000028	Cryptorchidism
OMIM:612626	MCTP2	55784	HP:0000054	Micropenis
OMIM:612626	MCTP2	55784	HP:0003812	Phenotypic variability
OMIM:601536	HOXA1	3198	HP:0000407	Sensorineural hearing impairment
OMIM:601536	HOXA1	3198	HP:0002363	Abnormality of brainstem morphology
OMIM:601536	HOXA1	3198	HP:0002194	Delayed gross motor development
OMIM:601536	HOXA1	3198	HP:0009145	Abnormality of cerebral artery
OMIM:601536	HOXA1	3198	HP:0000496	Abnormality of eye movement
OMIM:615453	CYC1	1537	HP:0002151	Increased serum lactate
OMIM:615453	CYC1	1537	HP:0003128	Lactic acidosis
OMIM:615453	CYC1	1537	HP:0001993	Ketoacidosis
OMIM:615453	CYC1	1537	HP:0002910	Elevated hepatic transaminases
OMIM:615453	CYC1	1537	HP:0001987	Hyperammonemia
OMIM:615453	CYC1	1537	HP:0000007	Autosomal recessive inheritance
OMIM:615453	UQCRQ	27089	HP:0002151	Increased serum lactate
OMIM:615453	UQCRQ	27089	HP:0003128	Lactic acidosis
OMIM:615453	UQCRQ	27089	HP:0001993	Ketoacidosis
OMIM:615453	UQCRQ	27089	HP:0002910	Elevated hepatic transaminases
OMIM:615453	UQCRQ	27089	HP:0001987	Hyperammonemia
OMIM:615453	UQCRQ	27089	HP:0000007	Autosomal recessive inheritance
OMIM:615453	LYRM7	90624	HP:0002151	Increased serum lactate
OMIM:615453	LYRM7	90624	HP:0003128	Lactic acidosis
OMIM:615453	LYRM7	90624	HP:0001993	Ketoacidosis
OMIM:615453	LYRM7	90624	HP:0002910	Elevated hepatic transaminases
OMIM:615453	LYRM7	90624	HP:0001987	Hyperammonemia
OMIM:615453	LYRM7	90624	HP:0000007	Autosomal recessive inheritance
OMIM:615453	UQCRB	7381	HP:0002151	Increased serum lactate
OMIM:615453	UQCRB	7381	HP:0003128	Lactic acidosis
OMIM:615453	UQCRB	7381	HP:0001993	Ketoacidosis
OMIM:615453	UQCRB	7381	HP:0002910	Elevated hepatic transaminases
OMIM:615453	UQCRB	7381	HP:0001987	Hyperammonemia
OMIM:615453	UQCRB	7381	HP:0000007	Autosomal recessive inheritance
OMIM:615453	TTC19	54902	HP:0002151	Increased serum lactate
OMIM:615453	TTC19	54902	HP:0003128	Lactic acidosis
OMIM:615453	TTC19	54902	HP:0001993	Ketoacidosis
OMIM:615453	TTC19	54902	HP:0002910	Elevated hepatic transaminases
OMIM:615453	TTC19	54902	HP:0001987	Hyperammonemia
OMIM:615453	TTC19	54902	HP:0000007	Autosomal recessive inheritance
OMIM:615453	CYTB	4519	HP:0002151	Increased serum lactate
OMIM:615453	CYTB	4519	HP:0003128	Lactic acidosis
OMIM:615453	CYTB	4519	HP:0001993	Ketoacidosis
OMIM:615453	CYTB	4519	HP:0002910	Elevated hepatic transaminases
OMIM:615453	CYTB	4519	HP:0001987	Hyperammonemia
OMIM:615453	CYTB	4519	HP:0000007	Autosomal recessive inheritance
OMIM:615453	UQCC3	790955	HP:0002151	Increased serum lactate
OMIM:615453	UQCC3	790955	HP:0003128	Lactic acidosis
OMIM:615453	UQCC3	790955	HP:0001993	Ketoacidosis
OMIM:615453	UQCC3	790955	HP:0002910	Elevated hepatic transaminases
OMIM:615453	UQCC3	790955	HP:0001987	Hyperammonemia
OMIM:615453	UQCC3	790955	HP:0000007	Autosomal recessive inheritance
OMIM:615453	BCS1L	617	HP:0002151	Increased serum lactate
OMIM:615453	BCS1L	617	HP:0003128	Lactic acidosis
OMIM:615453	BCS1L	617	HP:0001993	Ketoacidosis
OMIM:615453	BCS1L	617	HP:0002910	Elevated hepatic transaminases
OMIM:615453	BCS1L	617	HP:0001987	Hyperammonemia
OMIM:615453	BCS1L	617	HP:0000007	Autosomal recessive inheritance
OMIM:615453	UQCRC2	7385	HP:0002151	Increased serum lactate
OMIM:615453	UQCRC2	7385	HP:0003128	Lactic acidosis
OMIM:615453	UQCRC2	7385	HP:0001993	Ketoacidosis
OMIM:615453	UQCRC2	7385	HP:0002910	Elevated hepatic transaminases
OMIM:615453	UQCRC2	7385	HP:0001987	Hyperammonemia
OMIM:615453	UQCRC2	7385	HP:0000007	Autosomal recessive inheritance
OMIM:615453	UQCC2	84300	HP:0002151	Increased serum lactate
OMIM:615453	UQCC2	84300	HP:0003128	Lactic acidosis
OMIM:615453	UQCC2	84300	HP:0001993	Ketoacidosis
OMIM:615453	UQCC2	84300	HP:0002910	Elevated hepatic transaminases
OMIM:615453	UQCC2	84300	HP:0001987	Hyperammonemia
OMIM:615453	UQCC2	84300	HP:0000007	Autosomal recessive inheritance
OMIM:164280	MYCN	4613	HP:0000006	Autosomal dominant inheritance
OMIM:164280	MYCN	4613	HP:0000369	Low-set ears
OMIM:164280	MYCN	4613	HP:0000431	Wide nasal bridge
OMIM:164280	MYCN	4613	HP:0000365	Hearing impairment
OMIM:164280	MYCN	4613	HP:0000582	Upslanted palpebral fissure
OMIM:164280	MYCN	4613	HP:0012745	Short palpebral fissure
OMIM:164280	MYCN	4613	HP:0000581	Blepharophimosis
OMIM:164280	MYCN	4613	HP:0000252	Microcephaly
OMIM:164280	MYCN	4613	HP:0000286	Epicanthus
OMIM:164280	MYCN	4613	HP:0001558	Decreased fetal movement
OMIM:164280	MYCN	4613	HP:0012471	Thick vermilion border
OMIM:164280	MYCN	4613	HP:0000324	Facial asymmetry
OMIM:164280	MYCN	4613	HP:0000358	Posteriorly rotated ears
OMIM:164280	MYCN	4613	HP:0002575	Tracheoesophageal fistula
OMIM:164280	MYCN	4613	HP:0000232	Everted lower lip vermilion
OMIM:164280	MYCN	4613	HP:0001249	Intellectual disability
OMIM:164280	MYCN	4613	HP:0002032	Esophageal atresia
OMIM:164280	MYCN	4613	HP:0004691	2-3 toe syndactyly
OMIM:164280	MYCN	4613	HP:0002247	Duodenal atresia
OMIM:164280	MYCN	4613	HP:0004692	4-5 toe syndactyly
OMIM:164280	MYCN	4613	HP:0000218	High palate
OMIM:164280	MYCN	4613	HP:0001561	Polyhydramnios
OMIM:164280	MYCN	4613	HP:0001605	Vocal cord paralysis
OMIM:164280	MYCN	4613	HP:0000237	Small anterior fontanelle
OMIM:164280	MYCN	4613	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
OMIM:164280	MYCN	4613	HP:0001643	Patent ductus arteriosus
OMIM:164280	MYCN	4613	HP:0000269	Prominent occiput
OMIM:164280	MYCN	4613	HP:0000463	Anteverted nares
OMIM:164280	MYCN	4613	HP:0001748	Polysplenia
OMIM:164280	MYCN	4613	HP:0000347	Micrognathia
OMIM:164280	MYCN	4613	HP:0001328	Specific learning disability
OMIM:164280	MYCN	4613	HP:0001831	Short toe
OMIM:164280	MYCN	4613	HP:0000325	Triangular face
OMIM:300049	ARFGEF2	10564	HP:0001643	Patent ductus arteriosus
OMIM:300049	ARFGEF2	10564	HP:0001647	Bicuspid aortic valve
OMIM:300049	ARFGEF2	10564	HP:0002269	Abnormality of neuronal migration
OMIM:300049	ARFGEF2	10564	HP:0002282	Heterotopia
OMIM:300049	ARFGEF2	10564	HP:0001256	Intellectual disability, mild
OMIM:300049	ARFGEF2	10564	HP:0001297	Stroke
OMIM:300049	ARFGEF2	10564	HP:0003256	Abnormality of the coagulation cascade
OMIM:300049	ARFGEF2	10564	HP:0001423	X-linked dominant inheritance
OMIM:300049	ARFGEF2	10564	HP:0001250	Seizures
OMIM:300049	ERMARD	55780	HP:0001643	Patent ductus arteriosus
OMIM:300049	ERMARD	55780	HP:0001647	Bicuspid aortic valve
OMIM:300049	ERMARD	55780	HP:0002269	Abnormality of neuronal migration
OMIM:300049	ERMARD	55780	HP:0002282	Heterotopia
OMIM:300049	ERMARD	55780	HP:0001256	Intellectual disability, mild
OMIM:300049	ERMARD	55780	HP:0001297	Stroke
OMIM:300049	ERMARD	55780	HP:0003256	Abnormality of the coagulation cascade
OMIM:300049	ERMARD	55780	HP:0001423	X-linked dominant inheritance
OMIM:300049	ERMARD	55780	HP:0001250	Seizures
OMIM:300049	FLNA	2316	HP:0001643	Patent ductus arteriosus
OMIM:300049	FLNA	2316	HP:0001647	Bicuspid aortic valve
OMIM:300049	FLNA	2316	HP:0002269	Abnormality of neuronal migration
OMIM:300049	FLNA	2316	HP:0002282	Heterotopia
OMIM:300049	FLNA	2316	HP:0001256	Intellectual disability, mild
OMIM:300049	FLNA	2316	HP:0001297	Stroke
OMIM:300049	FLNA	2316	HP:0003256	Abnormality of the coagulation cascade
OMIM:300049	FLNA	2316	HP:0001423	X-linked dominant inheritance
OMIM:300049	FLNA	2316	HP:0001250	Seizures
OMIM:220100	SLC7A9	11136	HP:0000083	Renal insufficiency
OMIM:220100	SLC7A9	11136	HP:0000790	Hematuria
OMIM:220100	SLC7A9	11136	HP:0000010	Recurrent urinary tract infections
OMIM:220100	SLC7A9	11136	HP:0000787	Nephrolithiasis
OMIM:220100	SLC7A9	11136	HP:0000707	Abnormality of the nervous system
OMIM:220100	SLC7A9	11136	HP:0002149	Hyperuricemia
OMIM:220100	SLC7A9	11136	HP:0000006	Autosomal dominant inheritance
OMIM:220100	SLC7A9	11136	HP:0000007	Autosomal recessive inheritance
OMIM:220100	SLC7A9	11136	HP:0003828	Variable expressivity
OMIM:220100	SLC3A1	6519	HP:0000083	Renal insufficiency
OMIM:220100	SLC3A1	6519	HP:0000790	Hematuria
OMIM:220100	SLC3A1	6519	HP:0000010	Recurrent urinary tract infections
OMIM:220100	SLC3A1	6519	HP:0000787	Nephrolithiasis
OMIM:220100	SLC3A1	6519	HP:0000707	Abnormality of the nervous system
OMIM:220100	SLC3A1	6519	HP:0002149	Hyperuricemia
OMIM:220100	SLC3A1	6519	HP:0000006	Autosomal dominant inheritance
OMIM:220100	SLC3A1	6519	HP:0000007	Autosomal recessive inheritance
OMIM:220100	SLC3A1	6519	HP:0003828	Variable expressivity
OMIM:267500	AK2	204	HP:0002014	Diarrhea
OMIM:267500	AK2	204	HP:0004313	Decreased antibody level in blood
OMIM:267500	AK2	204	HP:0001882	Leukopenia
OMIM:267500	AK2	204	HP:0004430	Severe combined immunodeficiency
OMIM:267500	AK2	204	HP:0001874	Abnormality of neutrophils
OMIM:267500	AK2	204	HP:0001944	Dehydration
OMIM:267500	AK2	204	HP:0000388	Otitis media
OMIM:267500	AK2	204	HP:0005374	Cellular immunodeficiency
OMIM:267500	AK2	204	HP:0001903	Anemia
OMIM:267500	AK2	204	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:267500	AK2	204	HP:0010515	Aplasia/Hypoplasia of the thymus
OMIM:267500	AK2	204	HP:0000007	Autosomal recessive inheritance
OMIM:267500	AK2	204	HP:0000365	Hearing impairment
OMIM:267500	AK2	204	HP:0001824	Weight loss
OMIM:267500	AK2	204	HP:0000988	Skin rash
OMIM:267500	AK2	204	HP:0000777	Abnormality of the thymus
OMIM:267500	AK2	204	HP:0002205	Recurrent respiratory infections
OMIM:267500	AK2	204	HP:0200042	Skin ulcer
OMIM:267500	AK2	204	HP:0004370	Abnormality of temperature regulation
OMIM:267500	AK2	204	HP:0002024	Malabsorption
OMIM:267500	AK2	204	HP:0100806	Sepsis
OMIM:615422	VCP	7415	HP:0000708	Behavioral abnormality
OMIM:615422	VCP	7415	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615422	VCP	7415	HP:0000924	Abnormality of the skeletal system
OMIM:615422	VCP	7415	HP:0003198	Myopathy
OMIM:615422	VCP	7415	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:615422	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:615422	VCP	7415	HP:0003560	Muscular dystrophy
OMIM:615422	HNRNPA1	3178	HP:0000708	Behavioral abnormality
OMIM:615422	HNRNPA1	3178	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615422	HNRNPA1	3178	HP:0000924	Abnormality of the skeletal system
OMIM:615422	HNRNPA1	3178	HP:0003198	Myopathy
OMIM:615422	HNRNPA1	3178	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:615422	HNRNPA1	3178	HP:0003202	Skeletal muscle atrophy
OMIM:615422	HNRNPA1	3178	HP:0003560	Muscular dystrophy
OMIM:615422	HNRNPA2B1	3181	HP:0000708	Behavioral abnormality
OMIM:615422	HNRNPA2B1	3181	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615422	HNRNPA2B1	3181	HP:0000924	Abnormality of the skeletal system
OMIM:615422	HNRNPA2B1	3181	HP:0003198	Myopathy
OMIM:615422	HNRNPA2B1	3181	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:615422	HNRNPA2B1	3181	HP:0003202	Skeletal muscle atrophy
OMIM:615422	HNRNPA2B1	3181	HP:0003560	Muscular dystrophy
OMIM:236600	CCDC88C	440193	HP:0000238	Hydrocephalus
OMIM:236600	CCDC88C	440193	HP:0000007	Autosomal recessive inheritance
OMIM:236600	CCDC88C	440193	HP:0001249	Intellectual disability
OMIM:236600	CCDC88C	440193	HP:0002119	Ventriculomegaly
OMIM:236600	CCDC88C	440193	HP:0001250	Seizures
OMIM:236600	CCDC88C	440193	HP:0003577	Congenital onset
OMIM:251000	MUT	4594	HP:0001252	Muscular hypotonia
OMIM:251000	MUT	4594	HP:0001987	Hyperammonemia
OMIM:251000	MUT	4594	HP:0000091	Abnormality of the renal tubule
OMIM:251000	MUT	4594	HP:0001882	Leukopenia
OMIM:251000	MUT	4594	HP:0002912	Methylmalonic acidemia
OMIM:251000	MUT	4594	HP:0001903	Anemia
OMIM:251000	MUT	4594	HP:0012120	Methylmalonic aciduria
OMIM:251000	MUT	4594	HP:0002017	Nausea and vomiting
OMIM:251000	MUT	4594	HP:0001873	Thrombocytopenia
OMIM:251000	MUT	4594	HP:0001733	Pancreatitis
OMIM:251000	MUT	4594	HP:0001250	Seizures
OMIM:251000	MUT	4594	HP:0001744	Splenomegaly
OMIM:251000	MUT	4594	HP:0002167	Neurological speech impairment
OMIM:251000	MUT	4594	HP:0002240	Hepatomegaly
OMIM:251000	MUT	4594	HP:0001263	Global developmental delay
OMIM:251000	MUT	4594	HP:0001944	Dehydration
OMIM:251000	MUT	4594	HP:0002027	Abdominal pain
OMIM:251000	MUT	4594	HP:0002039	Anorexia
OMIM:251000	MUT	4594	HP:0002453	Abnormality of the globus pallidus
OMIM:251000	MUT	4594	HP:0000083	Renal insufficiency
OMIM:251000	MUT	4594	HP:0001639	Hypertrophic cardiomyopathy
OMIM:251000	MUT	4594	HP:0002093	Respiratory insufficiency
OMIM:251000	MUT	4594	HP:0002154	Hyperglycinemia
OMIM:251000	MUT	4594	HP:0011695	Cerebellar hemorrhage
OMIM:251000	MUT	4594	HP:0008872	Feeding difficulties in infancy
OMIM:251000	MUT	4594	HP:0002170	Intracranial hemorrhage
OMIM:251000	MUT	4594	HP:0004374	Hemiplegia/hemiparesis
OMIM:251000	MUT	4594	HP:0000007	Autosomal recessive inheritance
OMIM:251000	MUT	4594	HP:0002311	Incoordination
OMIM:251000	MUT	4594	HP:0001638	Cardiomyopathy
OMIM:251000	MUT	4594	HP:0001508	Failure to thrive
OMIM:251000	MUT	4594	HP:0004372	Reduced consciousness/confusion
OMIM:251000	MUT	4594	HP:0001259	Coma
OMIM:251000	MUT	4594	HP:0001970	Tubulointerstitial nephritis
OMIM:251000	MUT	4594	HP:0005979	Metabolic ketoacidosis
OMIM:251000	MUT	4594	HP:0003774	Stage 5 chronic kidney disease
OMIM:251000	MUT	4594	HP:0002013	Vomiting
OMIM:251000	MUT	4594	HP:0002072	Chorea
OMIM:251000	MUT	4594	HP:0000648	Optic atrophy
OMIM:251000	MUT	4594	HP:0001254	Lethargy
OMIM:251000	MUT	4594	HP:0100806	Sepsis
OMIM:251000	MUT	4594	HP:0002188	Delayed CNS myelination
OMIM:251000	MUT	4594	HP:0001874	Abnormality of neutrophils
OMIM:251000	MUT	4594	HP:0100543	Cognitive impairment
OMIM:117650	SNRPB	6628	HP:0000405	Conductive hearing impairment
OMIM:117650	SNRPB	6628	HP:0000358	Posteriorly rotated ears
OMIM:117650	SNRPB	6628	HP:0000413	Atresia of the external auditory canal
OMIM:117650	SNRPB	6628	HP:0001511	Intrauterine growth retardation
OMIM:117650	SNRPB	6628	HP:0001629	Ventricular septal defect
OMIM:117650	SNRPB	6628	HP:0008897	Postnatal growth retardation
OMIM:117650	SNRPB	6628	HP:0001561	Polyhydramnios
OMIM:117650	SNRPB	6628	HP:0000006	Autosomal dominant inheritance
OMIM:117650	SNRPB	6628	HP:0000003	Multicystic kidney dysplasia
OMIM:117650	SNRPB	6628	HP:0000369	Low-set ears
OMIM:117650	SNRPB	6628	HP:0001611	Nasal speech
OMIM:117650	SNRPB	6628	HP:0000465	Webbed neck
OMIM:117650	SNRPB	6628	HP:0000878	11 pairs of ribs
OMIM:117650	SNRPB	6628	HP:0002132	Porencephaly
OMIM:117650	SNRPB	6628	HP:0005792	Short humerus
OMIM:117650	SNRPB	6628	HP:0005257	Thoracic hypoplasia
OMIM:117650	SNRPB	6628	HP:0000218	High palate
OMIM:117650	SNRPB	6628	HP:0100543	Cognitive impairment
OMIM:117650	SNRPB	6628	HP:0004322	Short stature
OMIM:117650	SNRPB	6628	HP:0000343	Long philtrum
OMIM:117650	SNRPB	6628	HP:0000347	Micrognathia
OMIM:117650	SNRPB	6628	HP:0001591	Bell-shaped thorax
OMIM:117650	SNRPB	6628	HP:0002808	Kyphosis
OMIM:117650	SNRPB	6628	HP:0000086	Ectopic kidney
OMIM:117650	SNRPB	6628	HP:0004209	Clinodactyly of the 5th finger
OMIM:117650	SNRPB	6628	HP:0000252	Microcephaly
OMIM:117650	SNRPB	6628	HP:0002514	Cerebral calcification
OMIM:117650	SNRPB	6628	HP:0002650	Scoliosis
OMIM:117650	SNRPB	6628	HP:0000164	Abnormality of the teeth
OMIM:117650	SNRPB	6628	HP:0002779	Tracheomalacia
OMIM:117650	SNRPB	6628	HP:0000162	Glossoptosis
OMIM:117650	SNRPB	6628	HP:0002324	Hydranencephaly
OMIM:117650	SNRPB	6628	HP:0002987	Elbow flexion contracture
OMIM:117650	SNRPB	6628	HP:0000007	Autosomal recessive inheritance
OMIM:117650	SNRPB	6628	HP:0001374	Congenital hip dislocation
OMIM:117650	SNRPB	6628	HP:0000272	Malar flattening
OMIM:117650	SNRPB	6628	HP:0000286	Epicanthus
OMIM:117650	SNRPB	6628	HP:0001249	Intellectual disability
OMIM:604219	CRYAA	1409	HP:0000639	Nystagmus
OMIM:604219	CRYAA	1409	HP:0007834	Progressive cataract
OMIM:604219	CRYAA	1409	HP:0000568	Microphthalmia
OMIM:604219	CRYAA	1409	HP:0000646	Amblyopia
OMIM:604219	CRYAA	1409	HP:0000501	Glaucoma
OMIM:604219	CRYAA	1409	HP:0000612	Iris coloboma
OMIM:604219	CRYAA	1409	HP:0000482	Microcornea
OMIM:604219	CRYAA	1409	HP:0000505	Visual impairment
OMIM:604219	CRYAA	1409	HP:0000518	Cataract
OMIM:604219	CRYAA	1409	HP:0000486	Strabismus
OMIM:604219	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:604219	CRYBA2	1412	HP:0000639	Nystagmus
OMIM:604219	CRYBA2	1412	HP:0007834	Progressive cataract
OMIM:604219	CRYBA2	1412	HP:0000568	Microphthalmia
OMIM:604219	CRYBA2	1412	HP:0000646	Amblyopia
OMIM:604219	CRYBA2	1412	HP:0000501	Glaucoma
OMIM:604219	CRYBA2	1412	HP:0000612	Iris coloboma
OMIM:604219	CRYBA2	1412	HP:0000482	Microcornea
OMIM:604219	CRYBA2	1412	HP:0000505	Visual impairment
OMIM:604219	CRYBA2	1412	HP:0000518	Cataract
OMIM:604219	CRYBA2	1412	HP:0000486	Strabismus
OMIM:604219	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:604219	CRYBA4	1413	HP:0000639	Nystagmus
OMIM:604219	CRYBA4	1413	HP:0007834	Progressive cataract
OMIM:604219	CRYBA4	1413	HP:0000568	Microphthalmia
OMIM:604219	CRYBA4	1413	HP:0000646	Amblyopia
OMIM:604219	CRYBA4	1413	HP:0000501	Glaucoma
OMIM:604219	CRYBA4	1413	HP:0000612	Iris coloboma
OMIM:604219	CRYBA4	1413	HP:0000482	Microcornea
OMIM:604219	CRYBA4	1413	HP:0000505	Visual impairment
OMIM:604219	CRYBA4	1413	HP:0000518	Cataract
OMIM:604219	CRYBA4	1413	HP:0000486	Strabismus
OMIM:604219	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:604219	CRYBB1	1414	HP:0000639	Nystagmus
OMIM:604219	CRYBB1	1414	HP:0007834	Progressive cataract
OMIM:604219	CRYBB1	1414	HP:0000568	Microphthalmia
OMIM:604219	CRYBB1	1414	HP:0000646	Amblyopia
OMIM:604219	CRYBB1	1414	HP:0000501	Glaucoma
OMIM:604219	CRYBB1	1414	HP:0000612	Iris coloboma
OMIM:604219	CRYBB1	1414	HP:0000482	Microcornea
OMIM:604219	CRYBB1	1414	HP:0000505	Visual impairment
OMIM:604219	CRYBB1	1414	HP:0000518	Cataract
OMIM:604219	CRYBB1	1414	HP:0000486	Strabismus
OMIM:604219	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:604219	AGK	55750	HP:0000639	Nystagmus
OMIM:604219	AGK	55750	HP:0007834	Progressive cataract
OMIM:604219	AGK	55750	HP:0000568	Microphthalmia
OMIM:604219	AGK	55750	HP:0000646	Amblyopia
OMIM:604219	AGK	55750	HP:0000501	Glaucoma
OMIM:604219	AGK	55750	HP:0000612	Iris coloboma
OMIM:604219	AGK	55750	HP:0000482	Microcornea
OMIM:604219	AGK	55750	HP:0000505	Visual impairment
OMIM:604219	AGK	55750	HP:0000518	Cataract
OMIM:604219	AGK	55750	HP:0000486	Strabismus
OMIM:604219	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:604219	CRYBB2	1415	HP:0000639	Nystagmus
OMIM:604219	CRYBB2	1415	HP:0007834	Progressive cataract
OMIM:604219	CRYBB2	1415	HP:0000568	Microphthalmia
OMIM:604219	CRYBB2	1415	HP:0000646	Amblyopia
OMIM:604219	CRYBB2	1415	HP:0000501	Glaucoma
OMIM:604219	CRYBB2	1415	HP:0000612	Iris coloboma
OMIM:604219	CRYBB2	1415	HP:0000482	Microcornea
OMIM:604219	CRYBB2	1415	HP:0000505	Visual impairment
OMIM:604219	CRYBB2	1415	HP:0000518	Cataract
OMIM:604219	CRYBB2	1415	HP:0000486	Strabismus
OMIM:604219	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:604219	GCNT2	2651	HP:0000639	Nystagmus
OMIM:604219	GCNT2	2651	HP:0007834	Progressive cataract
OMIM:604219	GCNT2	2651	HP:0000568	Microphthalmia
OMIM:604219	GCNT2	2651	HP:0000646	Amblyopia
OMIM:604219	GCNT2	2651	HP:0000501	Glaucoma
OMIM:604219	GCNT2	2651	HP:0000612	Iris coloboma
OMIM:604219	GCNT2	2651	HP:0000482	Microcornea
OMIM:604219	GCNT2	2651	HP:0000505	Visual impairment
OMIM:604219	GCNT2	2651	HP:0000518	Cataract
OMIM:604219	GCNT2	2651	HP:0000486	Strabismus
OMIM:604219	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:604219	CRYGC	1420	HP:0000639	Nystagmus
OMIM:604219	CRYGC	1420	HP:0007834	Progressive cataract
OMIM:604219	CRYGC	1420	HP:0000568	Microphthalmia
OMIM:604219	CRYGC	1420	HP:0000646	Amblyopia
OMIM:604219	CRYGC	1420	HP:0000501	Glaucoma
OMIM:604219	CRYGC	1420	HP:0000612	Iris coloboma
OMIM:604219	CRYGC	1420	HP:0000482	Microcornea
OMIM:604219	CRYGC	1420	HP:0000505	Visual impairment
OMIM:604219	CRYGC	1420	HP:0000518	Cataract
OMIM:604219	CRYGC	1420	HP:0000486	Strabismus
OMIM:604219	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:604219	CRYGD	1421	HP:0000639	Nystagmus
OMIM:604219	CRYGD	1421	HP:0007834	Progressive cataract
OMIM:604219	CRYGD	1421	HP:0000568	Microphthalmia
OMIM:604219	CRYGD	1421	HP:0000646	Amblyopia
OMIM:604219	CRYGD	1421	HP:0000501	Glaucoma
OMIM:604219	CRYGD	1421	HP:0000612	Iris coloboma
OMIM:604219	CRYGD	1421	HP:0000482	Microcornea
OMIM:604219	CRYGD	1421	HP:0000505	Visual impairment
OMIM:604219	CRYGD	1421	HP:0000518	Cataract
OMIM:604219	CRYGD	1421	HP:0000486	Strabismus
OMIM:604219	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:604219	MAF	4094	HP:0000639	Nystagmus
OMIM:604219	MAF	4094	HP:0007834	Progressive cataract
OMIM:604219	MAF	4094	HP:0000568	Microphthalmia
OMIM:604219	MAF	4094	HP:0000646	Amblyopia
OMIM:604219	MAF	4094	HP:0000501	Glaucoma
OMIM:604219	MAF	4094	HP:0000612	Iris coloboma
OMIM:604219	MAF	4094	HP:0000482	Microcornea
OMIM:604219	MAF	4094	HP:0000505	Visual impairment
OMIM:604219	MAF	4094	HP:0000518	Cataract
OMIM:604219	MAF	4094	HP:0000486	Strabismus
OMIM:604219	MAF	4094	HP:0000006	Autosomal dominant inheritance
OMIM:604219	GJA8	2703	HP:0000639	Nystagmus
OMIM:604219	GJA8	2703	HP:0007834	Progressive cataract
OMIM:604219	GJA8	2703	HP:0000568	Microphthalmia
OMIM:604219	GJA8	2703	HP:0000646	Amblyopia
OMIM:604219	GJA8	2703	HP:0000501	Glaucoma
OMIM:604219	GJA8	2703	HP:0000612	Iris coloboma
OMIM:604219	GJA8	2703	HP:0000482	Microcornea
OMIM:604219	GJA8	2703	HP:0000505	Visual impairment
OMIM:604219	GJA8	2703	HP:0000518	Cataract
OMIM:604219	GJA8	2703	HP:0000486	Strabismus
OMIM:604219	GJA8	2703	HP:0000006	Autosomal dominant inheritance
OMIM:610127	CTSD	1509	HP:0001105	Retinal atrophy
OMIM:610127	CTSD	1509	HP:0002133	Status epilepticus
OMIM:610127	CTSD	1509	HP:0000340	Sloping forehead
OMIM:610127	CTSD	1509	HP:0010864	Intellectual disability, severe
OMIM:610127	CTSD	1509	HP:0001250	Seizures
OMIM:610127	CTSD	1509	HP:0003577	Congenital onset
OMIM:610127	CTSD	1509	HP:0000369	Low-set ears
OMIM:610127	CTSD	1509	HP:0000572	Visual loss
OMIM:610127	CTSD	1509	HP:0002529	Neuronal loss in central nervous system
OMIM:610127	CTSD	1509	HP:0002878	Respiratory failure
OMIM:610127	CTSD	1509	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:610127	CTSD	1509	HP:0000007	Autosomal recessive inheritance
OMIM:610127	CTSD	1509	HP:0006887	Intellectual disability, progressive
OMIM:610127	CTSD	1509	HP:0000252	Microcephaly
OMIM:610127	CTSD	1509	HP:0002093	Respiratory insufficiency
OMIM:610127	CTSD	1509	HP:0000431	Wide nasal bridge
OMIM:610127	CTSD	1509	HP:0001251	Ataxia
OMIM:610127	CTSD	1509	HP:0002104	Apnea
OMIM:610127	CTSD	1509	HP:0002059	Cerebral atrophy
OMIM:610127	CTSD	1509	HP:0001272	Cerebellar atrophy
OMIM:610127	CTSD	1509	HP:0002063	Rigidity
OMIM:610127	CTSD	1509	HP:0001257	Spasticity
OMIM:610127	CTSD	1509	HP:0000510	Rod-cone dystrophy
OMIM:607341	TSC1	7248	HP:0002539	Cortical dysplasia
OMIM:607341	TSC1	7248	HP:0003581	Adult onset
OMIM:607341	TSC1	7248	HP:0003745	Sporadic
OMIM:607341	TSC1	7248	HP:0100543	Cognitive impairment
OMIM:607341	TSC1	7248	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607341	TSC1	7248	HP:0003593	Infantile onset
OMIM:607341	MTOR	2475	HP:0002539	Cortical dysplasia
OMIM:607341	MTOR	2475	HP:0003581	Adult onset
OMIM:607341	MTOR	2475	HP:0003745	Sporadic
OMIM:607341	MTOR	2475	HP:0100543	Cognitive impairment
OMIM:607341	MTOR	2475	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607341	MTOR	2475	HP:0003593	Infantile onset
OMIM:615127	CNTN2	6900	HP:0001250	Seizures
OMIM:615127	CNTN2	6900	HP:0000006	Autosomal dominant inheritance
OMIM:615127	CNTN2	6900	HP:0003680	Nonprogressive
OMIM:615127	ADRA2B	151	HP:0001250	Seizures
OMIM:615127	ADRA2B	151	HP:0000006	Autosomal dominant inheritance
OMIM:615127	ADRA2B	151	HP:0003680	Nonprogressive
OMIM:605549	AIPL1	23746	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:605549	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	AIPL1	23746	HP:0000587	Abnormality of the optic nerve
OMIM:605549	AIPL1	23746	HP:0000613	Photophobia
OMIM:605549	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:605549	AIPL1	23746	HP:0009926	Increased lacrimation
OMIM:605549	AIPL1	23746	HP:0007994	Peripheral visual field loss
OMIM:605549	AIPL1	23746	HP:0000608	Macular degeneration
OMIM:605549	AIPL1	23746	HP:0008043	Retinal arteriolar constriction
OMIM:605549	PITPNM3	83394	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	PITPNM3	83394	HP:0000007	Autosomal recessive inheritance
OMIM:605549	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	PITPNM3	83394	HP:0000587	Abnormality of the optic nerve
OMIM:605549	PITPNM3	83394	HP:0000613	Photophobia
OMIM:605549	PITPNM3	83394	HP:0000662	Nyctalopia
OMIM:605549	PITPNM3	83394	HP:0009926	Increased lacrimation
OMIM:605549	PITPNM3	83394	HP:0007994	Peripheral visual field loss
OMIM:605549	PITPNM3	83394	HP:0000608	Macular degeneration
OMIM:605549	PITPNM3	83394	HP:0008043	Retinal arteriolar constriction
OMIM:605549	OPN1LW	5956	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	OPN1LW	5956	HP:0000007	Autosomal recessive inheritance
OMIM:605549	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	OPN1LW	5956	HP:0000587	Abnormality of the optic nerve
OMIM:605549	OPN1LW	5956	HP:0000613	Photophobia
OMIM:605549	OPN1LW	5956	HP:0000662	Nyctalopia
OMIM:605549	OPN1LW	5956	HP:0009926	Increased lacrimation
OMIM:605549	OPN1LW	5956	HP:0007994	Peripheral visual field loss
OMIM:605549	OPN1LW	5956	HP:0000608	Macular degeneration
OMIM:605549	OPN1LW	5956	HP:0008043	Retinal arteriolar constriction
OMIM:605549	UNC119	9094	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	UNC119	9094	HP:0000007	Autosomal recessive inheritance
OMIM:605549	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	UNC119	9094	HP:0000587	Abnormality of the optic nerve
OMIM:605549	UNC119	9094	HP:0000613	Photophobia
OMIM:605549	UNC119	9094	HP:0000662	Nyctalopia
OMIM:605549	UNC119	9094	HP:0009926	Increased lacrimation
OMIM:605549	UNC119	9094	HP:0007994	Peripheral visual field loss
OMIM:605549	UNC119	9094	HP:0000608	Macular degeneration
OMIM:605549	UNC119	9094	HP:0008043	Retinal arteriolar constriction
OMIM:605549	RPGRIP1	57096	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:605549	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	RPGRIP1	57096	HP:0000587	Abnormality of the optic nerve
OMIM:605549	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:605549	RPGRIP1	57096	HP:0000662	Nyctalopia
OMIM:605549	RPGRIP1	57096	HP:0009926	Increased lacrimation
OMIM:605549	RPGRIP1	57096	HP:0007994	Peripheral visual field loss
OMIM:605549	RPGRIP1	57096	HP:0000608	Macular degeneration
OMIM:605549	RPGRIP1	57096	HP:0008043	Retinal arteriolar constriction
OMIM:605549	PRPH2	5961	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:605549	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	PRPH2	5961	HP:0000587	Abnormality of the optic nerve
OMIM:605549	PRPH2	5961	HP:0000613	Photophobia
OMIM:605549	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:605549	PRPH2	5961	HP:0009926	Increased lacrimation
OMIM:605549	PRPH2	5961	HP:0007994	Peripheral visual field loss
OMIM:605549	PRPH2	5961	HP:0000608	Macular degeneration
OMIM:605549	PRPH2	5961	HP:0008043	Retinal arteriolar constriction
OMIM:605549	CACNA1F	778	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:605549	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	CACNA1F	778	HP:0000587	Abnormality of the optic nerve
OMIM:605549	CACNA1F	778	HP:0000613	Photophobia
OMIM:605549	CACNA1F	778	HP:0000662	Nyctalopia
OMIM:605549	CACNA1F	778	HP:0009926	Increased lacrimation
OMIM:605549	CACNA1F	778	HP:0007994	Peripheral visual field loss
OMIM:605549	CACNA1F	778	HP:0000608	Macular degeneration
OMIM:605549	CACNA1F	778	HP:0008043	Retinal arteriolar constriction
OMIM:605549	PROM1	8842	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:605549	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	PROM1	8842	HP:0000587	Abnormality of the optic nerve
OMIM:605549	PROM1	8842	HP:0000613	Photophobia
OMIM:605549	PROM1	8842	HP:0000662	Nyctalopia
OMIM:605549	PROM1	8842	HP:0009926	Increased lacrimation
OMIM:605549	PROM1	8842	HP:0007994	Peripheral visual field loss
OMIM:605549	PROM1	8842	HP:0000608	Macular degeneration
OMIM:605549	PROM1	8842	HP:0008043	Retinal arteriolar constriction
OMIM:605549	DRAM2	128338	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	DRAM2	128338	HP:0000007	Autosomal recessive inheritance
OMIM:605549	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	DRAM2	128338	HP:0000587	Abnormality of the optic nerve
OMIM:605549	DRAM2	128338	HP:0000613	Photophobia
OMIM:605549	DRAM2	128338	HP:0000662	Nyctalopia
OMIM:605549	DRAM2	128338	HP:0009926	Increased lacrimation
OMIM:605549	DRAM2	128338	HP:0007994	Peripheral visual field loss
OMIM:605549	DRAM2	128338	HP:0000608	Macular degeneration
OMIM:605549	DRAM2	128338	HP:0008043	Retinal arteriolar constriction
OMIM:605549	CACNA2D4	93589	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:605549	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	CACNA2D4	93589	HP:0000587	Abnormality of the optic nerve
OMIM:605549	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:605549	CACNA2D4	93589	HP:0000662	Nyctalopia
OMIM:605549	CACNA2D4	93589	HP:0009926	Increased lacrimation
OMIM:605549	CACNA2D4	93589	HP:0007994	Peripheral visual field loss
OMIM:605549	CACNA2D4	93589	HP:0000608	Macular degeneration
OMIM:605549	CACNA2D4	93589	HP:0008043	Retinal arteriolar constriction
OMIM:605549	RAB28	9364	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	RAB28	9364	HP:0000007	Autosomal recessive inheritance
OMIM:605549	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	RAB28	9364	HP:0000587	Abnormality of the optic nerve
OMIM:605549	RAB28	9364	HP:0000613	Photophobia
OMIM:605549	RAB28	9364	HP:0000662	Nyctalopia
OMIM:605549	RAB28	9364	HP:0009926	Increased lacrimation
OMIM:605549	RAB28	9364	HP:0007994	Peripheral visual field loss
OMIM:605549	RAB28	9364	HP:0000608	Macular degeneration
OMIM:605549	RAB28	9364	HP:0008043	Retinal arteriolar constriction
OMIM:605549	RIMS1	22999	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	RIMS1	22999	HP:0000007	Autosomal recessive inheritance
OMIM:605549	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	RIMS1	22999	HP:0000587	Abnormality of the optic nerve
OMIM:605549	RIMS1	22999	HP:0000613	Photophobia
OMIM:605549	RIMS1	22999	HP:0000662	Nyctalopia
OMIM:605549	RIMS1	22999	HP:0009926	Increased lacrimation
OMIM:605549	RIMS1	22999	HP:0007994	Peripheral visual field loss
OMIM:605549	RIMS1	22999	HP:0000608	Macular degeneration
OMIM:605549	RIMS1	22999	HP:0008043	Retinal arteriolar constriction
OMIM:605549	RPGR	6103	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:605549	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	RPGR	6103	HP:0000587	Abnormality of the optic nerve
OMIM:605549	RPGR	6103	HP:0000613	Photophobia
OMIM:605549	RPGR	6103	HP:0000662	Nyctalopia
OMIM:605549	RPGR	6103	HP:0009926	Increased lacrimation
OMIM:605549	RPGR	6103	HP:0007994	Peripheral visual field loss
OMIM:605549	RPGR	6103	HP:0000608	Macular degeneration
OMIM:605549	RPGR	6103	HP:0008043	Retinal arteriolar constriction
OMIM:605549	ABCA4	24	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:605549	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	ABCA4	24	HP:0000587	Abnormality of the optic nerve
OMIM:605549	ABCA4	24	HP:0000613	Photophobia
OMIM:605549	ABCA4	24	HP:0000662	Nyctalopia
OMIM:605549	ABCA4	24	HP:0009926	Increased lacrimation
OMIM:605549	ABCA4	24	HP:0007994	Peripheral visual field loss
OMIM:605549	ABCA4	24	HP:0000608	Macular degeneration
OMIM:605549	ABCA4	24	HP:0008043	Retinal arteriolar constriction
OMIM:605549	SEMA4A	64218	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:605549	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	SEMA4A	64218	HP:0000587	Abnormality of the optic nerve
OMIM:605549	SEMA4A	64218	HP:0000613	Photophobia
OMIM:605549	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:605549	SEMA4A	64218	HP:0009926	Increased lacrimation
OMIM:605549	SEMA4A	64218	HP:0007994	Peripheral visual field loss
OMIM:605549	SEMA4A	64218	HP:0000608	Macular degeneration
OMIM:605549	SEMA4A	64218	HP:0008043	Retinal arteriolar constriction
OMIM:605549	C8ORF37	157657	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:605549	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	C8ORF37	157657	HP:0000587	Abnormality of the optic nerve
OMIM:605549	C8ORF37	157657	HP:0000613	Photophobia
OMIM:605549	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:605549	C8ORF37	157657	HP:0009926	Increased lacrimation
OMIM:605549	C8ORF37	157657	HP:0007994	Peripheral visual field loss
OMIM:605549	C8ORF37	157657	HP:0000608	Macular degeneration
OMIM:605549	C8ORF37	157657	HP:0008043	Retinal arteriolar constriction
OMIM:605549	OPN1MW	2652	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	OPN1MW	2652	HP:0000007	Autosomal recessive inheritance
OMIM:605549	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	OPN1MW	2652	HP:0000587	Abnormality of the optic nerve
OMIM:605549	OPN1MW	2652	HP:0000613	Photophobia
OMIM:605549	OPN1MW	2652	HP:0000662	Nyctalopia
OMIM:605549	OPN1MW	2652	HP:0009926	Increased lacrimation
OMIM:605549	OPN1MW	2652	HP:0007994	Peripheral visual field loss
OMIM:605549	OPN1MW	2652	HP:0000608	Macular degeneration
OMIM:605549	OPN1MW	2652	HP:0008043	Retinal arteriolar constriction
OMIM:605549	GUCA1A	2978	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	GUCA1A	2978	HP:0000007	Autosomal recessive inheritance
OMIM:605549	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	GUCA1A	2978	HP:0000587	Abnormality of the optic nerve
OMIM:605549	GUCA1A	2978	HP:0000613	Photophobia
OMIM:605549	GUCA1A	2978	HP:0000662	Nyctalopia
OMIM:605549	GUCA1A	2978	HP:0009926	Increased lacrimation
OMIM:605549	GUCA1A	2978	HP:0007994	Peripheral visual field loss
OMIM:605549	GUCA1A	2978	HP:0000608	Macular degeneration
OMIM:605549	GUCA1A	2978	HP:0008043	Retinal arteriolar constriction
OMIM:605549	RAX2	84839	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	RAX2	84839	HP:0000007	Autosomal recessive inheritance
OMIM:605549	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	RAX2	84839	HP:0000587	Abnormality of the optic nerve
OMIM:605549	RAX2	84839	HP:0000613	Photophobia
OMIM:605549	RAX2	84839	HP:0000662	Nyctalopia
OMIM:605549	RAX2	84839	HP:0009926	Increased lacrimation
OMIM:605549	RAX2	84839	HP:0007994	Peripheral visual field loss
OMIM:605549	RAX2	84839	HP:0000608	Macular degeneration
OMIM:605549	RAX2	84839	HP:0008043	Retinal arteriolar constriction
OMIM:605549	CNGA3	1261	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:605549	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	CNGA3	1261	HP:0000587	Abnormality of the optic nerve
OMIM:605549	CNGA3	1261	HP:0000613	Photophobia
OMIM:605549	CNGA3	1261	HP:0000662	Nyctalopia
OMIM:605549	CNGA3	1261	HP:0009926	Increased lacrimation
OMIM:605549	CNGA3	1261	HP:0007994	Peripheral visual field loss
OMIM:605549	CNGA3	1261	HP:0000608	Macular degeneration
OMIM:605549	CNGA3	1261	HP:0008043	Retinal arteriolar constriction
OMIM:605549	ADAM9	8754	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	ADAM9	8754	HP:0000007	Autosomal recessive inheritance
OMIM:605549	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	ADAM9	8754	HP:0000587	Abnormality of the optic nerve
OMIM:605549	ADAM9	8754	HP:0000613	Photophobia
OMIM:605549	ADAM9	8754	HP:0000662	Nyctalopia
OMIM:605549	ADAM9	8754	HP:0009926	Increased lacrimation
OMIM:605549	ADAM9	8754	HP:0007994	Peripheral visual field loss
OMIM:605549	ADAM9	8754	HP:0000608	Macular degeneration
OMIM:605549	ADAM9	8754	HP:0008043	Retinal arteriolar constriction
OMIM:605549	CDHR1	92211	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:605549	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	CDHR1	92211	HP:0000587	Abnormality of the optic nerve
OMIM:605549	CDHR1	92211	HP:0000613	Photophobia
OMIM:605549	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:605549	CDHR1	92211	HP:0009926	Increased lacrimation
OMIM:605549	CDHR1	92211	HP:0007994	Peripheral visual field loss
OMIM:605549	CDHR1	92211	HP:0000608	Macular degeneration
OMIM:605549	CDHR1	92211	HP:0008043	Retinal arteriolar constriction
OMIM:605549	TTLL5	23093	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	TTLL5	23093	HP:0000007	Autosomal recessive inheritance
OMIM:605549	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	TTLL5	23093	HP:0000587	Abnormality of the optic nerve
OMIM:605549	TTLL5	23093	HP:0000613	Photophobia
OMIM:605549	TTLL5	23093	HP:0000662	Nyctalopia
OMIM:605549	TTLL5	23093	HP:0009926	Increased lacrimation
OMIM:605549	TTLL5	23093	HP:0007994	Peripheral visual field loss
OMIM:605549	TTLL5	23093	HP:0000608	Macular degeneration
OMIM:605549	TTLL5	23093	HP:0008043	Retinal arteriolar constriction
OMIM:605549	GUCY2D	3000	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:605549	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	GUCY2D	3000	HP:0000587	Abnormality of the optic nerve
OMIM:605549	GUCY2D	3000	HP:0000613	Photophobia
OMIM:605549	GUCY2D	3000	HP:0000662	Nyctalopia
OMIM:605549	GUCY2D	3000	HP:0009926	Increased lacrimation
OMIM:605549	GUCY2D	3000	HP:0007994	Peripheral visual field loss
OMIM:605549	GUCY2D	3000	HP:0000608	Macular degeneration
OMIM:605549	GUCY2D	3000	HP:0008043	Retinal arteriolar constriction
OMIM:605549	POC1B	282809	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	POC1B	282809	HP:0000007	Autosomal recessive inheritance
OMIM:605549	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	POC1B	282809	HP:0000587	Abnormality of the optic nerve
OMIM:605549	POC1B	282809	HP:0000613	Photophobia
OMIM:605549	POC1B	282809	HP:0000662	Nyctalopia
OMIM:605549	POC1B	282809	HP:0009926	Increased lacrimation
OMIM:605549	POC1B	282809	HP:0007994	Peripheral visual field loss
OMIM:605549	POC1B	282809	HP:0000608	Macular degeneration
OMIM:605549	POC1B	282809	HP:0008043	Retinal arteriolar constriction
OMIM:605549	CRX	1406	HP:0007703	Abnormality of retinal pigmentation
OMIM:605549	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:605549	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:605549	CRX	1406	HP:0000587	Abnormality of the optic nerve
OMIM:605549	CRX	1406	HP:0000613	Photophobia
OMIM:605549	CRX	1406	HP:0000662	Nyctalopia
OMIM:605549	CRX	1406	HP:0009926	Increased lacrimation
OMIM:605549	CRX	1406	HP:0007994	Peripheral visual field loss
OMIM:605549	CRX	1406	HP:0000608	Macular degeneration
OMIM:605549	CRX	1406	HP:0008043	Retinal arteriolar constriction
OMIM:600501	EDNRB	1910	HP:0006958	Abnormal auditory evoked potentials
OMIM:600501	EDNRB	1910	HP:0001022	Albinism
OMIM:600501	EDNRB	1910	HP:0002251	Aganglionic megacolon
OMIM:600501	EDNRB	1910	HP:0000007	Autosomal recessive inheritance
OMIM:600501	EDNRB	1910	HP:0000365	Hearing impairment
OMIM:600501	EDNRB	1910	HP:0007894	Hypopigmentation of the fundus
OMIM:212050	IL17RC	84818	HP:0001597	Abnormality of the nail
OMIM:212050	IL17RC	84818	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:212050	IL17RC	84818	HP:0001287	Meningitis
OMIM:212050	IL17RC	84818	HP:0002721	Immunodeficiency
OMIM:212050	IL17RC	84818	HP:0000007	Autosomal recessive inheritance
OMIM:212050	IL17RC	84818	HP:0009098	Chronic oral candidiasis
OMIM:212050	STAT1	6772	HP:0001597	Abnormality of the nail
OMIM:212050	STAT1	6772	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:212050	STAT1	6772	HP:0001287	Meningitis
OMIM:212050	STAT1	6772	HP:0002721	Immunodeficiency
OMIM:212050	STAT1	6772	HP:0000007	Autosomal recessive inheritance
OMIM:212050	STAT1	6772	HP:0009098	Chronic oral candidiasis
OMIM:212050	CLEC7A	64581	HP:0001597	Abnormality of the nail
OMIM:212050	CLEC7A	64581	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:212050	CLEC7A	64581	HP:0001287	Meningitis
OMIM:212050	CLEC7A	64581	HP:0002721	Immunodeficiency
OMIM:212050	CLEC7A	64581	HP:0000007	Autosomal recessive inheritance
OMIM:212050	CLEC7A	64581	HP:0009098	Chronic oral candidiasis
OMIM:212050	IL17RA	23765	HP:0001597	Abnormality of the nail
OMIM:212050	IL17RA	23765	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:212050	IL17RA	23765	HP:0001287	Meningitis
OMIM:212050	IL17RA	23765	HP:0002721	Immunodeficiency
OMIM:212050	IL17RA	23765	HP:0000007	Autosomal recessive inheritance
OMIM:212050	IL17RA	23765	HP:0009098	Chronic oral candidiasis
OMIM:212050	TRAF3IP2	10758	HP:0001597	Abnormality of the nail
OMIM:212050	TRAF3IP2	10758	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:212050	TRAF3IP2	10758	HP:0001287	Meningitis
OMIM:212050	TRAF3IP2	10758	HP:0002721	Immunodeficiency
OMIM:212050	TRAF3IP2	10758	HP:0000007	Autosomal recessive inheritance
OMIM:212050	TRAF3IP2	10758	HP:0009098	Chronic oral candidiasis
OMIM:212050	IL17F	112744	HP:0001597	Abnormality of the nail
OMIM:212050	IL17F	112744	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:212050	IL17F	112744	HP:0001287	Meningitis
OMIM:212050	IL17F	112744	HP:0002721	Immunodeficiency
OMIM:212050	IL17F	112744	HP:0000007	Autosomal recessive inheritance
OMIM:212050	IL17F	112744	HP:0009098	Chronic oral candidiasis
OMIM:212050	CARD9	64170	HP:0001597	Abnormality of the nail
OMIM:212050	CARD9	64170	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:212050	CARD9	64170	HP:0001287	Meningitis
OMIM:212050	CARD9	64170	HP:0002721	Immunodeficiency
OMIM:212050	CARD9	64170	HP:0000007	Autosomal recessive inheritance
OMIM:212050	CARD9	64170	HP:0009098	Chronic oral candidiasis
OMIM:616078	ZMYND11	10771	HP:0000189	Narrow palate
OMIM:616078	ZMYND11	10771	HP:0001344	Absent speech
OMIM:616078	ZMYND11	10771	HP:0007018	Attention deficit hyperactivity disorder
OMIM:616078	ZMYND11	10771	HP:0001249	Intellectual disability
OMIM:616078	ZMYND11	10771	HP:0000307	Pointed chin
OMIM:616078	ZMYND11	10771	HP:0000664	Synophrys
OMIM:616078	ZMYND11	10771	HP:0000219	Thin upper lip vermilion
OMIM:616078	ZMYND11	10771	HP:0000494	Downslanted palpebral fissures
OMIM:616078	ZMYND11	10771	HP:0000508	Ptosis
OMIM:616078	ZMYND11	10771	HP:0001250	Seizures
OMIM:616078	ZMYND11	10771	HP:0000218	High palate
OMIM:616078	ZMYND11	10771	HP:0000276	Long face
OMIM:616078	ZMYND11	10771	HP:0000316	Hypertelorism
OMIM:616078	ZMYND11	10771	HP:0000678	Dental crowding
OMIM:616078	ZMYND11	10771	HP:0001270	Motor delay
OMIM:616078	ZMYND11	10771	HP:0000248	Brachycephaly
OMIM:616078	ZMYND11	10771	HP:0000369	Low-set ears
OMIM:616078	SETBP1	26040	HP:0000189	Narrow palate
OMIM:616078	SETBP1	26040	HP:0001344	Absent speech
OMIM:616078	SETBP1	26040	HP:0007018	Attention deficit hyperactivity disorder
OMIM:616078	SETBP1	26040	HP:0001249	Intellectual disability
OMIM:616078	SETBP1	26040	HP:0000307	Pointed chin
OMIM:616078	SETBP1	26040	HP:0000664	Synophrys
OMIM:616078	SETBP1	26040	HP:0000219	Thin upper lip vermilion
OMIM:616078	SETBP1	26040	HP:0000494	Downslanted palpebral fissures
OMIM:616078	SETBP1	26040	HP:0000508	Ptosis
OMIM:616078	SETBP1	26040	HP:0001250	Seizures
OMIM:616078	SETBP1	26040	HP:0000218	High palate
OMIM:616078	SETBP1	26040	HP:0000276	Long face
OMIM:616078	SETBP1	26040	HP:0000316	Hypertelorism
OMIM:616078	SETBP1	26040	HP:0000678	Dental crowding
OMIM:616078	SETBP1	26040	HP:0001270	Motor delay
OMIM:616078	SETBP1	26040	HP:0000248	Brachycephaly
OMIM:616078	SETBP1	26040	HP:0000369	Low-set ears
OMIM:545000	TRNH	4564	HP:0001250	Seizures
OMIM:545000	TRNH	4564	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNH	4564	HP:0003198	Myopathy
OMIM:545000	TRNH	4564	HP:0004322	Short stature
OMIM:545000	TRNH	4564	HP:0000648	Optic atrophy
OMIM:545000	TRNH	4564	HP:0003457	EMG abnormality
OMIM:545000	TRNH	4564	HP:0002311	Incoordination
OMIM:545000	TRNH	4564	HP:0001251	Ataxia
OMIM:545000	TRNH	4564	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNH	4564	HP:0001324	Muscle weakness
OMIM:545000	TRNH	4564	HP:0002151	Increased serum lactate
OMIM:545000	TRNH	4564	HP:0001257	Spasticity
OMIM:545000	TRNH	4564	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNH	4564	HP:0100022	Abnormality of movement
OMIM:545000	TRNH	4564	HP:0001336	Myoclonus
OMIM:545000	TRNH	4564	HP:0100543	Cognitive impairment
OMIM:545000	TRNH	4564	HP:0000407	Sensorineural hearing impairment
OMIM:545000	RNR1	4549	HP:0001250	Seizures
OMIM:545000	RNR1	4549	HP:0002123	Generalized myoclonic seizures
OMIM:545000	RNR1	4549	HP:0003198	Myopathy
OMIM:545000	RNR1	4549	HP:0004322	Short stature
OMIM:545000	RNR1	4549	HP:0000648	Optic atrophy
OMIM:545000	RNR1	4549	HP:0003457	EMG abnormality
OMIM:545000	RNR1	4549	HP:0002311	Incoordination
OMIM:545000	RNR1	4549	HP:0001251	Ataxia
OMIM:545000	RNR1	4549	HP:0003542	Increased serum pyruvate
OMIM:545000	RNR1	4549	HP:0001324	Muscle weakness
OMIM:545000	RNR1	4549	HP:0002151	Increased serum lactate
OMIM:545000	RNR1	4549	HP:0001257	Spasticity
OMIM:545000	RNR1	4549	HP:0001427	Mitochondrial inheritance
OMIM:545000	RNR1	4549	HP:0100022	Abnormality of movement
OMIM:545000	RNR1	4549	HP:0001336	Myoclonus
OMIM:545000	RNR1	4549	HP:0100543	Cognitive impairment
OMIM:545000	RNR1	4549	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNK	4566	HP:0001250	Seizures
OMIM:545000	TRNK	4566	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNK	4566	HP:0003198	Myopathy
OMIM:545000	TRNK	4566	HP:0004322	Short stature
OMIM:545000	TRNK	4566	HP:0000648	Optic atrophy
OMIM:545000	TRNK	4566	HP:0003457	EMG abnormality
OMIM:545000	TRNK	4566	HP:0002311	Incoordination
OMIM:545000	TRNK	4566	HP:0001251	Ataxia
OMIM:545000	TRNK	4566	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNK	4566	HP:0001324	Muscle weakness
OMIM:545000	TRNK	4566	HP:0002151	Increased serum lactate
OMIM:545000	TRNK	4566	HP:0001257	Spasticity
OMIM:545000	TRNK	4566	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNK	4566	HP:0100022	Abnormality of movement
OMIM:545000	TRNK	4566	HP:0001336	Myoclonus
OMIM:545000	TRNK	4566	HP:0100543	Cognitive impairment
OMIM:545000	TRNK	4566	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNL1	4567	HP:0001250	Seizures
OMIM:545000	TRNL1	4567	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNL1	4567	HP:0003198	Myopathy
OMIM:545000	TRNL1	4567	HP:0004322	Short stature
OMIM:545000	TRNL1	4567	HP:0000648	Optic atrophy
OMIM:545000	TRNL1	4567	HP:0003457	EMG abnormality
OMIM:545000	TRNL1	4567	HP:0002311	Incoordination
OMIM:545000	TRNL1	4567	HP:0001251	Ataxia
OMIM:545000	TRNL1	4567	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNL1	4567	HP:0001324	Muscle weakness
OMIM:545000	TRNL1	4567	HP:0002151	Increased serum lactate
OMIM:545000	TRNL1	4567	HP:0001257	Spasticity
OMIM:545000	TRNL1	4567	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNL1	4567	HP:0100022	Abnormality of movement
OMIM:545000	TRNL1	4567	HP:0001336	Myoclonus
OMIM:545000	TRNL1	4567	HP:0100543	Cognitive impairment
OMIM:545000	TRNL1	4567	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNP	4571	HP:0001250	Seizures
OMIM:545000	TRNP	4571	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNP	4571	HP:0003198	Myopathy
OMIM:545000	TRNP	4571	HP:0004322	Short stature
OMIM:545000	TRNP	4571	HP:0000648	Optic atrophy
OMIM:545000	TRNP	4571	HP:0003457	EMG abnormality
OMIM:545000	TRNP	4571	HP:0002311	Incoordination
OMIM:545000	TRNP	4571	HP:0001251	Ataxia
OMIM:545000	TRNP	4571	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNP	4571	HP:0001324	Muscle weakness
OMIM:545000	TRNP	4571	HP:0002151	Increased serum lactate
OMIM:545000	TRNP	4571	HP:0001257	Spasticity
OMIM:545000	TRNP	4571	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNP	4571	HP:0100022	Abnormality of movement
OMIM:545000	TRNP	4571	HP:0001336	Myoclonus
OMIM:545000	TRNP	4571	HP:0100543	Cognitive impairment
OMIM:545000	TRNP	4571	HP:0000407	Sensorineural hearing impairment
OMIM:545000	ND5	4540	HP:0001250	Seizures
OMIM:545000	ND5	4540	HP:0002123	Generalized myoclonic seizures
OMIM:545000	ND5	4540	HP:0003198	Myopathy
OMIM:545000	ND5	4540	HP:0004322	Short stature
OMIM:545000	ND5	4540	HP:0000648	Optic atrophy
OMIM:545000	ND5	4540	HP:0003457	EMG abnormality
OMIM:545000	ND5	4540	HP:0002311	Incoordination
OMIM:545000	ND5	4540	HP:0001251	Ataxia
OMIM:545000	ND5	4540	HP:0003542	Increased serum pyruvate
OMIM:545000	ND5	4540	HP:0001324	Muscle weakness
OMIM:545000	ND5	4540	HP:0002151	Increased serum lactate
OMIM:545000	ND5	4540	HP:0001257	Spasticity
OMIM:545000	ND5	4540	HP:0001427	Mitochondrial inheritance
OMIM:545000	ND5	4540	HP:0100022	Abnormality of movement
OMIM:545000	ND5	4540	HP:0001336	Myoclonus
OMIM:545000	ND5	4540	HP:0100543	Cognitive impairment
OMIM:545000	ND5	4540	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNQ	4572	HP:0001250	Seizures
OMIM:545000	TRNQ	4572	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNQ	4572	HP:0003198	Myopathy
OMIM:545000	TRNQ	4572	HP:0004322	Short stature
OMIM:545000	TRNQ	4572	HP:0000648	Optic atrophy
OMIM:545000	TRNQ	4572	HP:0003457	EMG abnormality
OMIM:545000	TRNQ	4572	HP:0002311	Incoordination
OMIM:545000	TRNQ	4572	HP:0001251	Ataxia
OMIM:545000	TRNQ	4572	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNQ	4572	HP:0001324	Muscle weakness
OMIM:545000	TRNQ	4572	HP:0002151	Increased serum lactate
OMIM:545000	TRNQ	4572	HP:0001257	Spasticity
OMIM:545000	TRNQ	4572	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNQ	4572	HP:0100022	Abnormality of movement
OMIM:545000	TRNQ	4572	HP:0001336	Myoclonus
OMIM:545000	TRNQ	4572	HP:0100543	Cognitive impairment
OMIM:545000	TRNQ	4572	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNS1	4574	HP:0001250	Seizures
OMIM:545000	TRNS1	4574	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNS1	4574	HP:0003198	Myopathy
OMIM:545000	TRNS1	4574	HP:0004322	Short stature
OMIM:545000	TRNS1	4574	HP:0000648	Optic atrophy
OMIM:545000	TRNS1	4574	HP:0003457	EMG abnormality
OMIM:545000	TRNS1	4574	HP:0002311	Incoordination
OMIM:545000	TRNS1	4574	HP:0001251	Ataxia
OMIM:545000	TRNS1	4574	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNS1	4574	HP:0001324	Muscle weakness
OMIM:545000	TRNS1	4574	HP:0002151	Increased serum lactate
OMIM:545000	TRNS1	4574	HP:0001257	Spasticity
OMIM:545000	TRNS1	4574	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNS1	4574	HP:0100022	Abnormality of movement
OMIM:545000	TRNS1	4574	HP:0001336	Myoclonus
OMIM:545000	TRNS1	4574	HP:0100543	Cognitive impairment
OMIM:545000	TRNS1	4574	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNF	4558	HP:0001250	Seizures
OMIM:545000	TRNF	4558	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNF	4558	HP:0003198	Myopathy
OMIM:545000	TRNF	4558	HP:0004322	Short stature
OMIM:545000	TRNF	4558	HP:0000648	Optic atrophy
OMIM:545000	TRNF	4558	HP:0003457	EMG abnormality
OMIM:545000	TRNF	4558	HP:0002311	Incoordination
OMIM:545000	TRNF	4558	HP:0001251	Ataxia
OMIM:545000	TRNF	4558	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNF	4558	HP:0001324	Muscle weakness
OMIM:545000	TRNF	4558	HP:0002151	Increased serum lactate
OMIM:545000	TRNF	4558	HP:0001257	Spasticity
OMIM:545000	TRNF	4558	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNF	4558	HP:0100022	Abnormality of movement
OMIM:545000	TRNF	4558	HP:0001336	Myoclonus
OMIM:545000	TRNF	4558	HP:0100543	Cognitive impairment
OMIM:545000	TRNF	4558	HP:0000407	Sensorineural hearing impairment
OMIM:545000	TRNS2	4575	HP:0001250	Seizures
OMIM:545000	TRNS2	4575	HP:0002123	Generalized myoclonic seizures
OMIM:545000	TRNS2	4575	HP:0003198	Myopathy
OMIM:545000	TRNS2	4575	HP:0004322	Short stature
OMIM:545000	TRNS2	4575	HP:0000648	Optic atrophy
OMIM:545000	TRNS2	4575	HP:0003457	EMG abnormality
OMIM:545000	TRNS2	4575	HP:0002311	Incoordination
OMIM:545000	TRNS2	4575	HP:0001251	Ataxia
OMIM:545000	TRNS2	4575	HP:0003542	Increased serum pyruvate
OMIM:545000	TRNS2	4575	HP:0001324	Muscle weakness
OMIM:545000	TRNS2	4575	HP:0002151	Increased serum lactate
OMIM:545000	TRNS2	4575	HP:0001257	Spasticity
OMIM:545000	TRNS2	4575	HP:0001427	Mitochondrial inheritance
OMIM:545000	TRNS2	4575	HP:0100022	Abnormality of movement
OMIM:545000	TRNS2	4575	HP:0001336	Myoclonus
OMIM:545000	TRNS2	4575	HP:0100543	Cognitive impairment
OMIM:545000	TRNS2	4575	HP:0000407	Sensorineural hearing impairment
OMIM:613759	FADD	8772	HP:0001250	Seizures
OMIM:613759	FADD	8772	HP:0002059	Cerebral atrophy
OMIM:613759	FADD	8772	HP:0002719	Recurrent infections
OMIM:613759	FADD	8772	HP:0004935	Pulmonary artery atresia
OMIM:613759	FADD	8772	HP:0001410	Decreased liver function
OMIM:613759	FADD	8772	HP:0000007	Autosomal recessive inheritance
OMIM:613759	FADD	8772	HP:0001629	Ventricular septal defect
OMIM:613759	FADD	8772	HP:0001298	Encephalopathy
OMIM:616586	ALDH18A1	5832	HP:0003487	Babinski sign
OMIM:616586	ALDH18A1	5832	HP:0007024	Pseudobulbar paralysis
OMIM:616586	ALDH18A1	5832	HP:0001347	Hyperreflexia
OMIM:616586	ALDH18A1	5832	HP:0004322	Short stature
OMIM:616586	ALDH18A1	5832	HP:0000518	Cataract
OMIM:616586	ALDH18A1	5832	HP:0001337	Tremor
OMIM:616586	ALDH18A1	5832	HP:0001263	Global developmental delay
OMIM:616586	ALDH18A1	5832	HP:0001288	Gait disturbance
OMIM:616586	ALDH18A1	5832	HP:0002445	Tetraplegia
OMIM:616586	ALDH18A1	5832	HP:0003202	Skeletal muscle atrophy
OMIM:616586	ALDH18A1	5832	HP:0001999	Abnormal facial shape
OMIM:616586	ALDH18A1	5832	HP:0000252	Microcephaly
OMIM:616586	ALDH18A1	5832	HP:0001249	Intellectual disability
OMIM:616586	ALDH18A1	5832	HP:0001257	Spasticity
OMIM:616586	ALDH18A1	5832	HP:0009027	Foot dorsiflexor weakness
OMIM:614207	PIGO	84720	HP:0001256	Intellectual disability, mild
OMIM:614207	PIGO	84720	HP:0000007	Autosomal recessive inheritance
OMIM:614207	PIGO	84720	HP:0000252	Microcephaly
OMIM:614207	PIGO	84720	HP:0002905	Hyperphosphatemia
OMIM:614207	PIGO	84720	HP:0001263	Global developmental delay
OMIM:614207	PIGO	84720	HP:0003577	Congenital onset
OMIM:614207	PIGO	84720	HP:0001252	Muscular hypotonia
OMIM:614207	PIGO	84720	HP:0002059	Cerebral atrophy
OMIM:614207	PIGO	84720	HP:0010864	Intellectual disability, severe
OMIM:614207	PIGO	84720	HP:0001250	Seizures
OMIM:614207	PIGV	55650	HP:0001256	Intellectual disability, mild
OMIM:614207	PIGV	55650	HP:0000007	Autosomal recessive inheritance
OMIM:614207	PIGV	55650	HP:0000252	Microcephaly
OMIM:614207	PIGV	55650	HP:0002905	Hyperphosphatemia
OMIM:614207	PIGV	55650	HP:0001263	Global developmental delay
OMIM:614207	PIGV	55650	HP:0003577	Congenital onset
OMIM:614207	PIGV	55650	HP:0001252	Muscular hypotonia
OMIM:614207	PIGV	55650	HP:0002059	Cerebral atrophy
OMIM:614207	PIGV	55650	HP:0010864	Intellectual disability, severe
OMIM:614207	PIGV	55650	HP:0001250	Seizures
OMIM:614207	PGAP2	27315	HP:0001256	Intellectual disability, mild
OMIM:614207	PGAP2	27315	HP:0000007	Autosomal recessive inheritance
OMIM:614207	PGAP2	27315	HP:0000252	Microcephaly
OMIM:614207	PGAP2	27315	HP:0002905	Hyperphosphatemia
OMIM:614207	PGAP2	27315	HP:0001263	Global developmental delay
OMIM:614207	PGAP2	27315	HP:0003577	Congenital onset
OMIM:614207	PGAP2	27315	HP:0001252	Muscular hypotonia
OMIM:614207	PGAP2	27315	HP:0002059	Cerebral atrophy
OMIM:614207	PGAP2	27315	HP:0010864	Intellectual disability, severe
OMIM:614207	PGAP2	27315	HP:0001250	Seizures
OMIM:614207	PIGW	284098	HP:0001256	Intellectual disability, mild
OMIM:614207	PIGW	284098	HP:0000007	Autosomal recessive inheritance
OMIM:614207	PIGW	284098	HP:0000252	Microcephaly
OMIM:614207	PIGW	284098	HP:0002905	Hyperphosphatemia
OMIM:614207	PIGW	284098	HP:0001263	Global developmental delay
OMIM:614207	PIGW	284098	HP:0003577	Congenital onset
OMIM:614207	PIGW	284098	HP:0001252	Muscular hypotonia
OMIM:614207	PIGW	284098	HP:0002059	Cerebral atrophy
OMIM:614207	PIGW	284098	HP:0010864	Intellectual disability, severe
OMIM:614207	PIGW	284098	HP:0001250	Seizures
OMIM:614207	PGAP3	93210	HP:0001256	Intellectual disability, mild
OMIM:614207	PGAP3	93210	HP:0000007	Autosomal recessive inheritance
OMIM:614207	PGAP3	93210	HP:0000252	Microcephaly
OMIM:614207	PGAP3	93210	HP:0002905	Hyperphosphatemia
OMIM:614207	PGAP3	93210	HP:0001263	Global developmental delay
OMIM:614207	PGAP3	93210	HP:0003577	Congenital onset
OMIM:614207	PGAP3	93210	HP:0001252	Muscular hypotonia
OMIM:614207	PGAP3	93210	HP:0002059	Cerebral atrophy
OMIM:614207	PGAP3	93210	HP:0010864	Intellectual disability, severe
OMIM:614207	PGAP3	93210	HP:0001250	Seizures
OMIM:614207	PIGL	9487	HP:0001256	Intellectual disability, mild
OMIM:614207	PIGL	9487	HP:0000007	Autosomal recessive inheritance
OMIM:614207	PIGL	9487	HP:0000252	Microcephaly
OMIM:614207	PIGL	9487	HP:0002905	Hyperphosphatemia
OMIM:614207	PIGL	9487	HP:0001263	Global developmental delay
OMIM:614207	PIGL	9487	HP:0003577	Congenital onset
OMIM:614207	PIGL	9487	HP:0001252	Muscular hypotonia
OMIM:614207	PIGL	9487	HP:0002059	Cerebral atrophy
OMIM:614207	PIGL	9487	HP:0010864	Intellectual disability, severe
OMIM:614207	PIGL	9487	HP:0001250	Seizures
OMIM:613728	ANO10	55129	HP:0002070	Limb ataxia
OMIM:613728	ANO10	55129	HP:0002078	Truncal ataxia
OMIM:613728	ANO10	55129	HP:0001272	Cerebellar atrophy
OMIM:613728	ANO10	55129	HP:0000007	Autosomal recessive inheritance
OMIM:613728	ANO10	55129	HP:0001260	Dysarthria
OMIM:613728	ANO10	55129	HP:0002380	Fasciculations
OMIM:613728	ANO10	55129	HP:0000639	Nystagmus
OMIM:613728	ANO10	55129	HP:0001310	Dysmetria
OMIM:613728	ANO10	55129	HP:0002066	Gait ataxia
OMIM:613728	ANO10	55129	HP:0001249	Intellectual disability
OMIM:613728	ANO10	55129	HP:0001761	Pes cavus
OMIM:613728	ANO10	55129	HP:0001347	Hyperreflexia
OMIM:540000	COX1	4512	HP:0000822	Hypertension
OMIM:540000	COX1	4512	HP:0003198	Myopathy
OMIM:540000	COX1	4512	HP:0000819	Diabetes mellitus
OMIM:540000	COX1	4512	HP:0002076	Migraine
OMIM:540000	COX1	4512	HP:0002104	Apnea
OMIM:540000	COX1	4512	HP:0002354	Memory impairment
OMIM:540000	COX1	4512	HP:0001724	Aortic dilatation
OMIM:540000	COX1	4512	HP:0003128	Lactic acidosis
OMIM:540000	COX1	4512	HP:0004370	Abnormality of temperature regulation
OMIM:540000	COX1	4512	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	COX1	4512	HP:0008064	Ichthyosis
OMIM:540000	COX1	4512	HP:0002311	Incoordination
OMIM:540000	COX1	4512	HP:0002150	Hypercalciuria
OMIM:540000	COX1	4512	HP:0001324	Muscle weakness
OMIM:540000	COX1	4512	HP:0002027	Abdominal pain
OMIM:540000	COX1	4512	HP:0004325	Decreased body weight
OMIM:540000	COX1	4512	HP:0000853	Goiter
OMIM:540000	COX1	4512	HP:0001103	Abnormality of the macula
OMIM:540000	COX1	4512	HP:0002167	Neurological speech impairment
OMIM:540000	COX1	4512	HP:0003202	Skeletal muscle atrophy
OMIM:540000	COX1	4512	HP:0008872	Feeding difficulties in infancy
OMIM:540000	COX1	4512	HP:0000078	Abnormality of the genital system
OMIM:540000	COX1	4512	HP:0001337	Tremor
OMIM:540000	COX1	4512	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	COX1	4512	HP:0002019	Constipation
OMIM:540000	COX1	4512	HP:0000648	Optic atrophy
OMIM:540000	COX1	4512	HP:0008207	Primary adrenal insufficiency
OMIM:540000	COX1	4512	HP:0000519	Congenital cataract
OMIM:540000	COX1	4512	HP:0001635	Congestive heart failure
OMIM:540000	COX1	4512	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	COX1	4512	HP:0001315	Reduced tendon reflexes
OMIM:540000	COX1	4512	HP:0002637	Cerebral ischemia
OMIM:540000	COX1	4512	HP:0002119	Ventriculomegaly
OMIM:540000	COX1	4512	HP:0100704	Cortical visual impairment
OMIM:540000	COX1	4512	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	COX1	4512	HP:0000829	Hypoparathyroidism
OMIM:540000	COX1	4512	HP:0003401	Paresthesia
OMIM:540000	COX1	4512	HP:0003457	EMG abnormality
OMIM:540000	COX1	4512	HP:0000662	Nyctalopia
OMIM:540000	COX1	4512	HP:0001392	Abnormality of the liver
OMIM:540000	COX1	4512	HP:0000093	Proteinuria
OMIM:540000	COX1	4512	HP:0002514	Cerebral calcification
OMIM:540000	COX1	4512	HP:0000726	Dementia
OMIM:540000	COX1	4512	HP:0001712	Left ventricular hypertrophy
OMIM:540000	COX1	4512	HP:0002204	Pulmonary embolism
OMIM:540000	COX1	4512	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	COX1	4512	HP:0000508	Ptosis
OMIM:540000	COX1	4512	HP:0000738	Hallucinations
OMIM:540000	COX1	4512	HP:0002039	Anorexia
OMIM:540000	COX1	4512	HP:0002353	EEG abnormality
OMIM:540000	COX1	4512	HP:0000821	Hypothyroidism
OMIM:540000	COX1	4512	HP:0001298	Encephalopathy
OMIM:540000	COX1	4512	HP:0000836	Hyperthyroidism
OMIM:540000	COX1	4512	HP:0100576	Amaurosis fugax
OMIM:540000	COX1	4512	HP:0000830	Anterior hypopituitarism
OMIM:540000	COX1	4512	HP:0004322	Short stature
OMIM:540000	COX1	4512	HP:0005214	Intestinal obstruction
OMIM:540000	COX1	4512	HP:0000377	Abnormality of the pinna
OMIM:540000	COX1	4512	HP:0000083	Renal insufficiency
OMIM:540000	COX1	4512	HP:0004372	Reduced consciousness/confusion
OMIM:540000	COX1	4512	HP:0001123	Visual field defect
OMIM:540000	COX1	4512	HP:0002269	Abnormality of neuronal migration
OMIM:540000	COX1	4512	HP:0001507	Growth abnormality
OMIM:540000	COX1	4512	HP:0100646	Thyroiditis
OMIM:540000	COX1	4512	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	COX1	4512	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	COX1	4512	HP:0000316	Hypertelorism
OMIM:540000	COX1	4512	HP:0001427	Mitochondrial inheritance
OMIM:540000	COX1	4512	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	COX1	4512	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	COX1	4512	HP:0000670	Carious teeth
OMIM:540000	COX1	4512	HP:0002024	Malabsorption
OMIM:540000	COX1	4512	HP:0000100	Nephrotic syndrome
OMIM:540000	COX1	4512	HP:0000505	Visual impairment
OMIM:540000	COX1	4512	HP:0001252	Muscular hypotonia
OMIM:540000	COX1	4512	HP:0002376	Developmental regression
OMIM:540000	COX1	4512	HP:0001645	Sudden cardiac death
OMIM:540000	COX1	4512	HP:0005978	Type II diabetes mellitus
OMIM:540000	COX1	4512	HP:0000717	Autism
OMIM:540000	COX1	4512	HP:0000597	Ophthalmoparesis
OMIM:540000	COX1	4512	HP:0000091	Abnormality of the renal tubule
OMIM:540000	COX1	4512	HP:0000212	Gingival overgrowth
OMIM:540000	COX1	4512	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	COX1	4512	HP:0002093	Respiratory insufficiency
OMIM:540000	COX1	4512	HP:0000518	Cataract
OMIM:540000	COX1	4512	HP:0000298	Mask-like facies
OMIM:540000	COX1	4512	HP:0002120	Cerebral cortical atrophy
OMIM:540000	COX1	4512	HP:0000252	Microcephaly
OMIM:540000	COX1	4512	HP:0000602	Ophthalmoplegia
OMIM:540000	COX1	4512	HP:0001733	Pancreatitis
OMIM:540000	COX1	4512	HP:0001053	Hypopigmented skin patches
OMIM:540000	COX1	4512	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	COX1	4512	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	COX1	4512	HP:0002750	Delayed skeletal maturation
OMIM:540000	COX1	4512	HP:0000407	Sensorineural hearing impairment
OMIM:540000	COX1	4512	HP:0002017	Nausea and vomiting
OMIM:540000	COX1	4512	HP:0000998	Hypertrichosis
OMIM:540000	COX1	4512	HP:0003326	Myalgia
OMIM:540000	COX1	4512	HP:0004305	Involuntary movements
OMIM:540000	COX2	4513	HP:0000822	Hypertension
OMIM:540000	COX2	4513	HP:0003198	Myopathy
OMIM:540000	COX2	4513	HP:0000819	Diabetes mellitus
OMIM:540000	COX2	4513	HP:0002076	Migraine
OMIM:540000	COX2	4513	HP:0002104	Apnea
OMIM:540000	COX2	4513	HP:0002354	Memory impairment
OMIM:540000	COX2	4513	HP:0001724	Aortic dilatation
OMIM:540000	COX2	4513	HP:0003128	Lactic acidosis
OMIM:540000	COX2	4513	HP:0004370	Abnormality of temperature regulation
OMIM:540000	COX2	4513	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	COX2	4513	HP:0008064	Ichthyosis
OMIM:540000	COX2	4513	HP:0002311	Incoordination
OMIM:540000	COX2	4513	HP:0002150	Hypercalciuria
OMIM:540000	COX2	4513	HP:0001324	Muscle weakness
OMIM:540000	COX2	4513	HP:0002027	Abdominal pain
OMIM:540000	COX2	4513	HP:0004325	Decreased body weight
OMIM:540000	COX2	4513	HP:0000853	Goiter
OMIM:540000	COX2	4513	HP:0001103	Abnormality of the macula
OMIM:540000	COX2	4513	HP:0002167	Neurological speech impairment
OMIM:540000	COX2	4513	HP:0003202	Skeletal muscle atrophy
OMIM:540000	COX2	4513	HP:0008872	Feeding difficulties in infancy
OMIM:540000	COX2	4513	HP:0000078	Abnormality of the genital system
OMIM:540000	COX2	4513	HP:0001337	Tremor
OMIM:540000	COX2	4513	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	COX2	4513	HP:0002019	Constipation
OMIM:540000	COX2	4513	HP:0000648	Optic atrophy
OMIM:540000	COX2	4513	HP:0008207	Primary adrenal insufficiency
OMIM:540000	COX2	4513	HP:0000519	Congenital cataract
OMIM:540000	COX2	4513	HP:0001635	Congestive heart failure
OMIM:540000	COX2	4513	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	COX2	4513	HP:0001315	Reduced tendon reflexes
OMIM:540000	COX2	4513	HP:0002637	Cerebral ischemia
OMIM:540000	COX2	4513	HP:0002119	Ventriculomegaly
OMIM:540000	COX2	4513	HP:0100704	Cortical visual impairment
OMIM:540000	COX2	4513	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	COX2	4513	HP:0000829	Hypoparathyroidism
OMIM:540000	COX2	4513	HP:0003401	Paresthesia
OMIM:540000	COX2	4513	HP:0003457	EMG abnormality
OMIM:540000	COX2	4513	HP:0000662	Nyctalopia
OMIM:540000	COX2	4513	HP:0001392	Abnormality of the liver
OMIM:540000	COX2	4513	HP:0000093	Proteinuria
OMIM:540000	COX2	4513	HP:0002514	Cerebral calcification
OMIM:540000	COX2	4513	HP:0000726	Dementia
OMIM:540000	COX2	4513	HP:0001712	Left ventricular hypertrophy
OMIM:540000	COX2	4513	HP:0002204	Pulmonary embolism
OMIM:540000	COX2	4513	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	COX2	4513	HP:0000508	Ptosis
OMIM:540000	COX2	4513	HP:0000738	Hallucinations
OMIM:540000	COX2	4513	HP:0002039	Anorexia
OMIM:540000	COX2	4513	HP:0002353	EEG abnormality
OMIM:540000	COX2	4513	HP:0000821	Hypothyroidism
OMIM:540000	COX2	4513	HP:0001298	Encephalopathy
OMIM:540000	COX2	4513	HP:0000836	Hyperthyroidism
OMIM:540000	COX2	4513	HP:0100576	Amaurosis fugax
OMIM:540000	COX2	4513	HP:0000830	Anterior hypopituitarism
OMIM:540000	COX2	4513	HP:0004322	Short stature
OMIM:540000	COX2	4513	HP:0005214	Intestinal obstruction
OMIM:540000	COX2	4513	HP:0000377	Abnormality of the pinna
OMIM:540000	COX2	4513	HP:0000083	Renal insufficiency
OMIM:540000	COX2	4513	HP:0004372	Reduced consciousness/confusion
OMIM:540000	COX2	4513	HP:0001123	Visual field defect
OMIM:540000	COX2	4513	HP:0002269	Abnormality of neuronal migration
OMIM:540000	COX2	4513	HP:0001507	Growth abnormality
OMIM:540000	COX2	4513	HP:0100646	Thyroiditis
OMIM:540000	COX2	4513	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	COX2	4513	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	COX2	4513	HP:0000316	Hypertelorism
OMIM:540000	COX2	4513	HP:0001427	Mitochondrial inheritance
OMIM:540000	COX2	4513	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	COX2	4513	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	COX2	4513	HP:0000670	Carious teeth
OMIM:540000	COX2	4513	HP:0002024	Malabsorption
OMIM:540000	COX2	4513	HP:0000100	Nephrotic syndrome
OMIM:540000	COX2	4513	HP:0000505	Visual impairment
OMIM:540000	COX2	4513	HP:0001252	Muscular hypotonia
OMIM:540000	COX2	4513	HP:0002376	Developmental regression
OMIM:540000	COX2	4513	HP:0001645	Sudden cardiac death
OMIM:540000	COX2	4513	HP:0005978	Type II diabetes mellitus
OMIM:540000	COX2	4513	HP:0000717	Autism
OMIM:540000	COX2	4513	HP:0000597	Ophthalmoparesis
OMIM:540000	COX2	4513	HP:0000091	Abnormality of the renal tubule
OMIM:540000	COX2	4513	HP:0000212	Gingival overgrowth
OMIM:540000	COX2	4513	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	COX2	4513	HP:0002093	Respiratory insufficiency
OMIM:540000	COX2	4513	HP:0000518	Cataract
OMIM:540000	COX2	4513	HP:0000298	Mask-like facies
OMIM:540000	COX2	4513	HP:0002120	Cerebral cortical atrophy
OMIM:540000	COX2	4513	HP:0000252	Microcephaly
OMIM:540000	COX2	4513	HP:0000602	Ophthalmoplegia
OMIM:540000	COX2	4513	HP:0001733	Pancreatitis
OMIM:540000	COX2	4513	HP:0001053	Hypopigmented skin patches
OMIM:540000	COX2	4513	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	COX2	4513	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	COX2	4513	HP:0002750	Delayed skeletal maturation
OMIM:540000	COX2	4513	HP:0000407	Sensorineural hearing impairment
OMIM:540000	COX2	4513	HP:0002017	Nausea and vomiting
OMIM:540000	COX2	4513	HP:0000998	Hypertrichosis
OMIM:540000	COX2	4513	HP:0003326	Myalgia
OMIM:540000	COX2	4513	HP:0004305	Involuntary movements
OMIM:540000	COX3	4514	HP:0000822	Hypertension
OMIM:540000	COX3	4514	HP:0003198	Myopathy
OMIM:540000	COX3	4514	HP:0000819	Diabetes mellitus
OMIM:540000	COX3	4514	HP:0002076	Migraine
OMIM:540000	COX3	4514	HP:0002104	Apnea
OMIM:540000	COX3	4514	HP:0002354	Memory impairment
OMIM:540000	COX3	4514	HP:0001724	Aortic dilatation
OMIM:540000	COX3	4514	HP:0003128	Lactic acidosis
OMIM:540000	COX3	4514	HP:0004370	Abnormality of temperature regulation
OMIM:540000	COX3	4514	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	COX3	4514	HP:0008064	Ichthyosis
OMIM:540000	COX3	4514	HP:0002311	Incoordination
OMIM:540000	COX3	4514	HP:0002150	Hypercalciuria
OMIM:540000	COX3	4514	HP:0001324	Muscle weakness
OMIM:540000	COX3	4514	HP:0002027	Abdominal pain
OMIM:540000	COX3	4514	HP:0004325	Decreased body weight
OMIM:540000	COX3	4514	HP:0000853	Goiter
OMIM:540000	COX3	4514	HP:0001103	Abnormality of the macula
OMIM:540000	COX3	4514	HP:0002167	Neurological speech impairment
OMIM:540000	COX3	4514	HP:0003202	Skeletal muscle atrophy
OMIM:540000	COX3	4514	HP:0008872	Feeding difficulties in infancy
OMIM:540000	COX3	4514	HP:0000078	Abnormality of the genital system
OMIM:540000	COX3	4514	HP:0001337	Tremor
OMIM:540000	COX3	4514	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	COX3	4514	HP:0002019	Constipation
OMIM:540000	COX3	4514	HP:0000648	Optic atrophy
OMIM:540000	COX3	4514	HP:0008207	Primary adrenal insufficiency
OMIM:540000	COX3	4514	HP:0000519	Congenital cataract
OMIM:540000	COX3	4514	HP:0001635	Congestive heart failure
OMIM:540000	COX3	4514	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	COX3	4514	HP:0001315	Reduced tendon reflexes
OMIM:540000	COX3	4514	HP:0002637	Cerebral ischemia
OMIM:540000	COX3	4514	HP:0002119	Ventriculomegaly
OMIM:540000	COX3	4514	HP:0100704	Cortical visual impairment
OMIM:540000	COX3	4514	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	COX3	4514	HP:0000829	Hypoparathyroidism
OMIM:540000	COX3	4514	HP:0003401	Paresthesia
OMIM:540000	COX3	4514	HP:0003457	EMG abnormality
OMIM:540000	COX3	4514	HP:0000662	Nyctalopia
OMIM:540000	COX3	4514	HP:0001392	Abnormality of the liver
OMIM:540000	COX3	4514	HP:0000093	Proteinuria
OMIM:540000	COX3	4514	HP:0002514	Cerebral calcification
OMIM:540000	COX3	4514	HP:0000726	Dementia
OMIM:540000	COX3	4514	HP:0001712	Left ventricular hypertrophy
OMIM:540000	COX3	4514	HP:0002204	Pulmonary embolism
OMIM:540000	COX3	4514	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	COX3	4514	HP:0000508	Ptosis
OMIM:540000	COX3	4514	HP:0000738	Hallucinations
OMIM:540000	COX3	4514	HP:0002039	Anorexia
OMIM:540000	COX3	4514	HP:0002353	EEG abnormality
OMIM:540000	COX3	4514	HP:0000821	Hypothyroidism
OMIM:540000	COX3	4514	HP:0001298	Encephalopathy
OMIM:540000	COX3	4514	HP:0000836	Hyperthyroidism
OMIM:540000	COX3	4514	HP:0100576	Amaurosis fugax
OMIM:540000	COX3	4514	HP:0000830	Anterior hypopituitarism
OMIM:540000	COX3	4514	HP:0004322	Short stature
OMIM:540000	COX3	4514	HP:0005214	Intestinal obstruction
OMIM:540000	COX3	4514	HP:0000377	Abnormality of the pinna
OMIM:540000	COX3	4514	HP:0000083	Renal insufficiency
OMIM:540000	COX3	4514	HP:0004372	Reduced consciousness/confusion
OMIM:540000	COX3	4514	HP:0001123	Visual field defect
OMIM:540000	COX3	4514	HP:0002269	Abnormality of neuronal migration
OMIM:540000	COX3	4514	HP:0001507	Growth abnormality
OMIM:540000	COX3	4514	HP:0100646	Thyroiditis
OMIM:540000	COX3	4514	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	COX3	4514	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	COX3	4514	HP:0000316	Hypertelorism
OMIM:540000	COX3	4514	HP:0001427	Mitochondrial inheritance
OMIM:540000	COX3	4514	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	COX3	4514	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	COX3	4514	HP:0000670	Carious teeth
OMIM:540000	COX3	4514	HP:0002024	Malabsorption
OMIM:540000	COX3	4514	HP:0000100	Nephrotic syndrome
OMIM:540000	COX3	4514	HP:0000505	Visual impairment
OMIM:540000	COX3	4514	HP:0001252	Muscular hypotonia
OMIM:540000	COX3	4514	HP:0002376	Developmental regression
OMIM:540000	COX3	4514	HP:0001645	Sudden cardiac death
OMIM:540000	COX3	4514	HP:0005978	Type II diabetes mellitus
OMIM:540000	COX3	4514	HP:0000717	Autism
OMIM:540000	COX3	4514	HP:0000597	Ophthalmoparesis
OMIM:540000	COX3	4514	HP:0000091	Abnormality of the renal tubule
OMIM:540000	COX3	4514	HP:0000212	Gingival overgrowth
OMIM:540000	COX3	4514	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	COX3	4514	HP:0002093	Respiratory insufficiency
OMIM:540000	COX3	4514	HP:0000518	Cataract
OMIM:540000	COX3	4514	HP:0000298	Mask-like facies
OMIM:540000	COX3	4514	HP:0002120	Cerebral cortical atrophy
OMIM:540000	COX3	4514	HP:0000252	Microcephaly
OMIM:540000	COX3	4514	HP:0000602	Ophthalmoplegia
OMIM:540000	COX3	4514	HP:0001733	Pancreatitis
OMIM:540000	COX3	4514	HP:0001053	Hypopigmented skin patches
OMIM:540000	COX3	4514	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	COX3	4514	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	COX3	4514	HP:0002750	Delayed skeletal maturation
OMIM:540000	COX3	4514	HP:0000407	Sensorineural hearing impairment
OMIM:540000	COX3	4514	HP:0002017	Nausea and vomiting
OMIM:540000	COX3	4514	HP:0000998	Hypertrichosis
OMIM:540000	COX3	4514	HP:0003326	Myalgia
OMIM:540000	COX3	4514	HP:0004305	Involuntary movements
OMIM:540000	TRNW	4578	HP:0000822	Hypertension
OMIM:540000	TRNW	4578	HP:0003198	Myopathy
OMIM:540000	TRNW	4578	HP:0000819	Diabetes mellitus
OMIM:540000	TRNW	4578	HP:0002076	Migraine
OMIM:540000	TRNW	4578	HP:0002104	Apnea
OMIM:540000	TRNW	4578	HP:0002354	Memory impairment
OMIM:540000	TRNW	4578	HP:0001724	Aortic dilatation
OMIM:540000	TRNW	4578	HP:0003128	Lactic acidosis
OMIM:540000	TRNW	4578	HP:0004370	Abnormality of temperature regulation
OMIM:540000	TRNW	4578	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNW	4578	HP:0008064	Ichthyosis
OMIM:540000	TRNW	4578	HP:0002311	Incoordination
OMIM:540000	TRNW	4578	HP:0002150	Hypercalciuria
OMIM:540000	TRNW	4578	HP:0001324	Muscle weakness
OMIM:540000	TRNW	4578	HP:0002027	Abdominal pain
OMIM:540000	TRNW	4578	HP:0004325	Decreased body weight
OMIM:540000	TRNW	4578	HP:0000853	Goiter
OMIM:540000	TRNW	4578	HP:0001103	Abnormality of the macula
OMIM:540000	TRNW	4578	HP:0002167	Neurological speech impairment
OMIM:540000	TRNW	4578	HP:0003202	Skeletal muscle atrophy
OMIM:540000	TRNW	4578	HP:0008872	Feeding difficulties in infancy
OMIM:540000	TRNW	4578	HP:0000078	Abnormality of the genital system
OMIM:540000	TRNW	4578	HP:0001337	Tremor
OMIM:540000	TRNW	4578	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	TRNW	4578	HP:0002019	Constipation
OMIM:540000	TRNW	4578	HP:0000648	Optic atrophy
OMIM:540000	TRNW	4578	HP:0008207	Primary adrenal insufficiency
OMIM:540000	TRNW	4578	HP:0000519	Congenital cataract
OMIM:540000	TRNW	4578	HP:0001635	Congestive heart failure
OMIM:540000	TRNW	4578	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	TRNW	4578	HP:0001315	Reduced tendon reflexes
OMIM:540000	TRNW	4578	HP:0002637	Cerebral ischemia
OMIM:540000	TRNW	4578	HP:0002119	Ventriculomegaly
OMIM:540000	TRNW	4578	HP:0100704	Cortical visual impairment
OMIM:540000	TRNW	4578	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	TRNW	4578	HP:0000829	Hypoparathyroidism
OMIM:540000	TRNW	4578	HP:0003401	Paresthesia
OMIM:540000	TRNW	4578	HP:0003457	EMG abnormality
OMIM:540000	TRNW	4578	HP:0000662	Nyctalopia
OMIM:540000	TRNW	4578	HP:0001392	Abnormality of the liver
OMIM:540000	TRNW	4578	HP:0000093	Proteinuria
OMIM:540000	TRNW	4578	HP:0002514	Cerebral calcification
OMIM:540000	TRNW	4578	HP:0000726	Dementia
OMIM:540000	TRNW	4578	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNW	4578	HP:0002204	Pulmonary embolism
OMIM:540000	TRNW	4578	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	TRNW	4578	HP:0000508	Ptosis
OMIM:540000	TRNW	4578	HP:0000738	Hallucinations
OMIM:540000	TRNW	4578	HP:0002039	Anorexia
OMIM:540000	TRNW	4578	HP:0002353	EEG abnormality
OMIM:540000	TRNW	4578	HP:0000821	Hypothyroidism
OMIM:540000	TRNW	4578	HP:0001298	Encephalopathy
OMIM:540000	TRNW	4578	HP:0000836	Hyperthyroidism
OMIM:540000	TRNW	4578	HP:0100576	Amaurosis fugax
OMIM:540000	TRNW	4578	HP:0000830	Anterior hypopituitarism
OMIM:540000	TRNW	4578	HP:0004322	Short stature
OMIM:540000	TRNW	4578	HP:0005214	Intestinal obstruction
OMIM:540000	TRNW	4578	HP:0000377	Abnormality of the pinna
OMIM:540000	TRNW	4578	HP:0000083	Renal insufficiency
OMIM:540000	TRNW	4578	HP:0004372	Reduced consciousness/confusion
OMIM:540000	TRNW	4578	HP:0001123	Visual field defect
OMIM:540000	TRNW	4578	HP:0002269	Abnormality of neuronal migration
OMIM:540000	TRNW	4578	HP:0001507	Growth abnormality
OMIM:540000	TRNW	4578	HP:0100646	Thyroiditis
OMIM:540000	TRNW	4578	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	TRNW	4578	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	TRNW	4578	HP:0000316	Hypertelorism
OMIM:540000	TRNW	4578	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNW	4578	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	TRNW	4578	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	TRNW	4578	HP:0000670	Carious teeth
OMIM:540000	TRNW	4578	HP:0002024	Malabsorption
OMIM:540000	TRNW	4578	HP:0000100	Nephrotic syndrome
OMIM:540000	TRNW	4578	HP:0000505	Visual impairment
OMIM:540000	TRNW	4578	HP:0001252	Muscular hypotonia
OMIM:540000	TRNW	4578	HP:0002376	Developmental regression
OMIM:540000	TRNW	4578	HP:0001645	Sudden cardiac death
OMIM:540000	TRNW	4578	HP:0005978	Type II diabetes mellitus
OMIM:540000	TRNW	4578	HP:0000717	Autism
OMIM:540000	TRNW	4578	HP:0000597	Ophthalmoparesis
OMIM:540000	TRNW	4578	HP:0000091	Abnormality of the renal tubule
OMIM:540000	TRNW	4578	HP:0000212	Gingival overgrowth
OMIM:540000	TRNW	4578	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNW	4578	HP:0002093	Respiratory insufficiency
OMIM:540000	TRNW	4578	HP:0000518	Cataract
OMIM:540000	TRNW	4578	HP:0000298	Mask-like facies
OMIM:540000	TRNW	4578	HP:0002120	Cerebral cortical atrophy
OMIM:540000	TRNW	4578	HP:0000252	Microcephaly
OMIM:540000	TRNW	4578	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNW	4578	HP:0001733	Pancreatitis
OMIM:540000	TRNW	4578	HP:0001053	Hypopigmented skin patches
OMIM:540000	TRNW	4578	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	TRNW	4578	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNW	4578	HP:0002750	Delayed skeletal maturation
OMIM:540000	TRNW	4578	HP:0000407	Sensorineural hearing impairment
OMIM:540000	TRNW	4578	HP:0002017	Nausea and vomiting
OMIM:540000	TRNW	4578	HP:0000998	Hypertrichosis
OMIM:540000	TRNW	4578	HP:0003326	Myalgia
OMIM:540000	TRNW	4578	HP:0004305	Involuntary movements
OMIM:540000	TRNF	4558	HP:0000822	Hypertension
OMIM:540000	TRNF	4558	HP:0003198	Myopathy
OMIM:540000	TRNF	4558	HP:0000819	Diabetes mellitus
OMIM:540000	TRNF	4558	HP:0002076	Migraine
OMIM:540000	TRNF	4558	HP:0002104	Apnea
OMIM:540000	TRNF	4558	HP:0002354	Memory impairment
OMIM:540000	TRNF	4558	HP:0001724	Aortic dilatation
OMIM:540000	TRNF	4558	HP:0003128	Lactic acidosis
OMIM:540000	TRNF	4558	HP:0004370	Abnormality of temperature regulation
OMIM:540000	TRNF	4558	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNF	4558	HP:0008064	Ichthyosis
OMIM:540000	TRNF	4558	HP:0002311	Incoordination
OMIM:540000	TRNF	4558	HP:0002150	Hypercalciuria
OMIM:540000	TRNF	4558	HP:0001324	Muscle weakness
OMIM:540000	TRNF	4558	HP:0002027	Abdominal pain
OMIM:540000	TRNF	4558	HP:0004325	Decreased body weight
OMIM:540000	TRNF	4558	HP:0000853	Goiter
OMIM:540000	TRNF	4558	HP:0001103	Abnormality of the macula
OMIM:540000	TRNF	4558	HP:0002167	Neurological speech impairment
OMIM:540000	TRNF	4558	HP:0003202	Skeletal muscle atrophy
OMIM:540000	TRNF	4558	HP:0008872	Feeding difficulties in infancy
OMIM:540000	TRNF	4558	HP:0000078	Abnormality of the genital system
OMIM:540000	TRNF	4558	HP:0001337	Tremor
OMIM:540000	TRNF	4558	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	TRNF	4558	HP:0002019	Constipation
OMIM:540000	TRNF	4558	HP:0000648	Optic atrophy
OMIM:540000	TRNF	4558	HP:0008207	Primary adrenal insufficiency
OMIM:540000	TRNF	4558	HP:0000519	Congenital cataract
OMIM:540000	TRNF	4558	HP:0001635	Congestive heart failure
OMIM:540000	TRNF	4558	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	TRNF	4558	HP:0001315	Reduced tendon reflexes
OMIM:540000	TRNF	4558	HP:0002637	Cerebral ischemia
OMIM:540000	TRNF	4558	HP:0002119	Ventriculomegaly
OMIM:540000	TRNF	4558	HP:0100704	Cortical visual impairment
OMIM:540000	TRNF	4558	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	TRNF	4558	HP:0000829	Hypoparathyroidism
OMIM:540000	TRNF	4558	HP:0003401	Paresthesia
OMIM:540000	TRNF	4558	HP:0003457	EMG abnormality
OMIM:540000	TRNF	4558	HP:0000662	Nyctalopia
OMIM:540000	TRNF	4558	HP:0001392	Abnormality of the liver
OMIM:540000	TRNF	4558	HP:0000093	Proteinuria
OMIM:540000	TRNF	4558	HP:0002514	Cerebral calcification
OMIM:540000	TRNF	4558	HP:0000726	Dementia
OMIM:540000	TRNF	4558	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNF	4558	HP:0002204	Pulmonary embolism
OMIM:540000	TRNF	4558	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	TRNF	4558	HP:0000508	Ptosis
OMIM:540000	TRNF	4558	HP:0000738	Hallucinations
OMIM:540000	TRNF	4558	HP:0002039	Anorexia
OMIM:540000	TRNF	4558	HP:0002353	EEG abnormality
OMIM:540000	TRNF	4558	HP:0000821	Hypothyroidism
OMIM:540000	TRNF	4558	HP:0001298	Encephalopathy
OMIM:540000	TRNF	4558	HP:0000836	Hyperthyroidism
OMIM:540000	TRNF	4558	HP:0100576	Amaurosis fugax
OMIM:540000	TRNF	4558	HP:0000830	Anterior hypopituitarism
OMIM:540000	TRNF	4558	HP:0004322	Short stature
OMIM:540000	TRNF	4558	HP:0005214	Intestinal obstruction
OMIM:540000	TRNF	4558	HP:0000377	Abnormality of the pinna
OMIM:540000	TRNF	4558	HP:0000083	Renal insufficiency
OMIM:540000	TRNF	4558	HP:0004372	Reduced consciousness/confusion
OMIM:540000	TRNF	4558	HP:0001123	Visual field defect
OMIM:540000	TRNF	4558	HP:0002269	Abnormality of neuronal migration
OMIM:540000	TRNF	4558	HP:0001507	Growth abnormality
OMIM:540000	TRNF	4558	HP:0100646	Thyroiditis
OMIM:540000	TRNF	4558	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	TRNF	4558	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	TRNF	4558	HP:0000316	Hypertelorism
OMIM:540000	TRNF	4558	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNF	4558	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	TRNF	4558	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	TRNF	4558	HP:0000670	Carious teeth
OMIM:540000	TRNF	4558	HP:0002024	Malabsorption
OMIM:540000	TRNF	4558	HP:0000100	Nephrotic syndrome
OMIM:540000	TRNF	4558	HP:0000505	Visual impairment
OMIM:540000	TRNF	4558	HP:0001252	Muscular hypotonia
OMIM:540000	TRNF	4558	HP:0002376	Developmental regression
OMIM:540000	TRNF	4558	HP:0001645	Sudden cardiac death
OMIM:540000	TRNF	4558	HP:0005978	Type II diabetes mellitus
OMIM:540000	TRNF	4558	HP:0000717	Autism
OMIM:540000	TRNF	4558	HP:0000597	Ophthalmoparesis
OMIM:540000	TRNF	4558	HP:0000091	Abnormality of the renal tubule
OMIM:540000	TRNF	4558	HP:0000212	Gingival overgrowth
OMIM:540000	TRNF	4558	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNF	4558	HP:0002093	Respiratory insufficiency
OMIM:540000	TRNF	4558	HP:0000518	Cataract
OMIM:540000	TRNF	4558	HP:0000298	Mask-like facies
OMIM:540000	TRNF	4558	HP:0002120	Cerebral cortical atrophy
OMIM:540000	TRNF	4558	HP:0000252	Microcephaly
OMIM:540000	TRNF	4558	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNF	4558	HP:0001733	Pancreatitis
OMIM:540000	TRNF	4558	HP:0001053	Hypopigmented skin patches
OMIM:540000	TRNF	4558	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	TRNF	4558	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNF	4558	HP:0002750	Delayed skeletal maturation
OMIM:540000	TRNF	4558	HP:0000407	Sensorineural hearing impairment
OMIM:540000	TRNF	4558	HP:0002017	Nausea and vomiting
OMIM:540000	TRNF	4558	HP:0000998	Hypertrichosis
OMIM:540000	TRNF	4558	HP:0003326	Myalgia
OMIM:540000	TRNF	4558	HP:0004305	Involuntary movements
OMIM:540000	TRNH	4564	HP:0000822	Hypertension
OMIM:540000	TRNH	4564	HP:0003198	Myopathy
OMIM:540000	TRNH	4564	HP:0000819	Diabetes mellitus
OMIM:540000	TRNH	4564	HP:0002076	Migraine
OMIM:540000	TRNH	4564	HP:0002104	Apnea
OMIM:540000	TRNH	4564	HP:0002354	Memory impairment
OMIM:540000	TRNH	4564	HP:0001724	Aortic dilatation
OMIM:540000	TRNH	4564	HP:0003128	Lactic acidosis
OMIM:540000	TRNH	4564	HP:0004370	Abnormality of temperature regulation
OMIM:540000	TRNH	4564	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNH	4564	HP:0008064	Ichthyosis
OMIM:540000	TRNH	4564	HP:0002311	Incoordination
OMIM:540000	TRNH	4564	HP:0002150	Hypercalciuria
OMIM:540000	TRNH	4564	HP:0001324	Muscle weakness
OMIM:540000	TRNH	4564	HP:0002027	Abdominal pain
OMIM:540000	TRNH	4564	HP:0004325	Decreased body weight
OMIM:540000	TRNH	4564	HP:0000853	Goiter
OMIM:540000	TRNH	4564	HP:0001103	Abnormality of the macula
OMIM:540000	TRNH	4564	HP:0002167	Neurological speech impairment
OMIM:540000	TRNH	4564	HP:0003202	Skeletal muscle atrophy
OMIM:540000	TRNH	4564	HP:0008872	Feeding difficulties in infancy
OMIM:540000	TRNH	4564	HP:0000078	Abnormality of the genital system
OMIM:540000	TRNH	4564	HP:0001337	Tremor
OMIM:540000	TRNH	4564	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	TRNH	4564	HP:0002019	Constipation
OMIM:540000	TRNH	4564	HP:0000648	Optic atrophy
OMIM:540000	TRNH	4564	HP:0008207	Primary adrenal insufficiency
OMIM:540000	TRNH	4564	HP:0000519	Congenital cataract
OMIM:540000	TRNH	4564	HP:0001635	Congestive heart failure
OMIM:540000	TRNH	4564	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	TRNH	4564	HP:0001315	Reduced tendon reflexes
OMIM:540000	TRNH	4564	HP:0002637	Cerebral ischemia
OMIM:540000	TRNH	4564	HP:0002119	Ventriculomegaly
OMIM:540000	TRNH	4564	HP:0100704	Cortical visual impairment
OMIM:540000	TRNH	4564	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	TRNH	4564	HP:0000829	Hypoparathyroidism
OMIM:540000	TRNH	4564	HP:0003401	Paresthesia
OMIM:540000	TRNH	4564	HP:0003457	EMG abnormality
OMIM:540000	TRNH	4564	HP:0000662	Nyctalopia
OMIM:540000	TRNH	4564	HP:0001392	Abnormality of the liver
OMIM:540000	TRNH	4564	HP:0000093	Proteinuria
OMIM:540000	TRNH	4564	HP:0002514	Cerebral calcification
OMIM:540000	TRNH	4564	HP:0000726	Dementia
OMIM:540000	TRNH	4564	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNH	4564	HP:0002204	Pulmonary embolism
OMIM:540000	TRNH	4564	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	TRNH	4564	HP:0000508	Ptosis
OMIM:540000	TRNH	4564	HP:0000738	Hallucinations
OMIM:540000	TRNH	4564	HP:0002039	Anorexia
OMIM:540000	TRNH	4564	HP:0002353	EEG abnormality
OMIM:540000	TRNH	4564	HP:0000821	Hypothyroidism
OMIM:540000	TRNH	4564	HP:0001298	Encephalopathy
OMIM:540000	TRNH	4564	HP:0000836	Hyperthyroidism
OMIM:540000	TRNH	4564	HP:0100576	Amaurosis fugax
OMIM:540000	TRNH	4564	HP:0000830	Anterior hypopituitarism
OMIM:540000	TRNH	4564	HP:0004322	Short stature
OMIM:540000	TRNH	4564	HP:0005214	Intestinal obstruction
OMIM:540000	TRNH	4564	HP:0000377	Abnormality of the pinna
OMIM:540000	TRNH	4564	HP:0000083	Renal insufficiency
OMIM:540000	TRNH	4564	HP:0004372	Reduced consciousness/confusion
OMIM:540000	TRNH	4564	HP:0001123	Visual field defect
OMIM:540000	TRNH	4564	HP:0002269	Abnormality of neuronal migration
OMIM:540000	TRNH	4564	HP:0001507	Growth abnormality
OMIM:540000	TRNH	4564	HP:0100646	Thyroiditis
OMIM:540000	TRNH	4564	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	TRNH	4564	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	TRNH	4564	HP:0000316	Hypertelorism
OMIM:540000	TRNH	4564	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNH	4564	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	TRNH	4564	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	TRNH	4564	HP:0000670	Carious teeth
OMIM:540000	TRNH	4564	HP:0002024	Malabsorption
OMIM:540000	TRNH	4564	HP:0000100	Nephrotic syndrome
OMIM:540000	TRNH	4564	HP:0000505	Visual impairment
OMIM:540000	TRNH	4564	HP:0001252	Muscular hypotonia
OMIM:540000	TRNH	4564	HP:0002376	Developmental regression
OMIM:540000	TRNH	4564	HP:0001645	Sudden cardiac death
OMIM:540000	TRNH	4564	HP:0005978	Type II diabetes mellitus
OMIM:540000	TRNH	4564	HP:0000717	Autism
OMIM:540000	TRNH	4564	HP:0000597	Ophthalmoparesis
OMIM:540000	TRNH	4564	HP:0000091	Abnormality of the renal tubule
OMIM:540000	TRNH	4564	HP:0000212	Gingival overgrowth
OMIM:540000	TRNH	4564	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNH	4564	HP:0002093	Respiratory insufficiency
OMIM:540000	TRNH	4564	HP:0000518	Cataract
OMIM:540000	TRNH	4564	HP:0000298	Mask-like facies
OMIM:540000	TRNH	4564	HP:0002120	Cerebral cortical atrophy
OMIM:540000	TRNH	4564	HP:0000252	Microcephaly
OMIM:540000	TRNH	4564	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNH	4564	HP:0001733	Pancreatitis
OMIM:540000	TRNH	4564	HP:0001053	Hypopigmented skin patches
OMIM:540000	TRNH	4564	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	TRNH	4564	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNH	4564	HP:0002750	Delayed skeletal maturation
OMIM:540000	TRNH	4564	HP:0000407	Sensorineural hearing impairment
OMIM:540000	TRNH	4564	HP:0002017	Nausea and vomiting
OMIM:540000	TRNH	4564	HP:0000998	Hypertrichosis
OMIM:540000	TRNH	4564	HP:0003326	Myalgia
OMIM:540000	TRNH	4564	HP:0004305	Involuntary movements
OMIM:540000	ND1	4535	HP:0000822	Hypertension
OMIM:540000	ND1	4535	HP:0003198	Myopathy
OMIM:540000	ND1	4535	HP:0000819	Diabetes mellitus
OMIM:540000	ND1	4535	HP:0002076	Migraine
OMIM:540000	ND1	4535	HP:0002104	Apnea
OMIM:540000	ND1	4535	HP:0002354	Memory impairment
OMIM:540000	ND1	4535	HP:0001724	Aortic dilatation
OMIM:540000	ND1	4535	HP:0003128	Lactic acidosis
OMIM:540000	ND1	4535	HP:0004370	Abnormality of temperature regulation
OMIM:540000	ND1	4535	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	ND1	4535	HP:0008064	Ichthyosis
OMIM:540000	ND1	4535	HP:0002311	Incoordination
OMIM:540000	ND1	4535	HP:0002150	Hypercalciuria
OMIM:540000	ND1	4535	HP:0001324	Muscle weakness
OMIM:540000	ND1	4535	HP:0002027	Abdominal pain
OMIM:540000	ND1	4535	HP:0004325	Decreased body weight
OMIM:540000	ND1	4535	HP:0000853	Goiter
OMIM:540000	ND1	4535	HP:0001103	Abnormality of the macula
OMIM:540000	ND1	4535	HP:0002167	Neurological speech impairment
OMIM:540000	ND1	4535	HP:0003202	Skeletal muscle atrophy
OMIM:540000	ND1	4535	HP:0008872	Feeding difficulties in infancy
OMIM:540000	ND1	4535	HP:0000078	Abnormality of the genital system
OMIM:540000	ND1	4535	HP:0001337	Tremor
OMIM:540000	ND1	4535	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	ND1	4535	HP:0002019	Constipation
OMIM:540000	ND1	4535	HP:0000648	Optic atrophy
OMIM:540000	ND1	4535	HP:0008207	Primary adrenal insufficiency
OMIM:540000	ND1	4535	HP:0000519	Congenital cataract
OMIM:540000	ND1	4535	HP:0001635	Congestive heart failure
OMIM:540000	ND1	4535	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	ND1	4535	HP:0001315	Reduced tendon reflexes
OMIM:540000	ND1	4535	HP:0002637	Cerebral ischemia
OMIM:540000	ND1	4535	HP:0002119	Ventriculomegaly
OMIM:540000	ND1	4535	HP:0100704	Cortical visual impairment
OMIM:540000	ND1	4535	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	ND1	4535	HP:0000829	Hypoparathyroidism
OMIM:540000	ND1	4535	HP:0003401	Paresthesia
OMIM:540000	ND1	4535	HP:0003457	EMG abnormality
OMIM:540000	ND1	4535	HP:0000662	Nyctalopia
OMIM:540000	ND1	4535	HP:0001392	Abnormality of the liver
OMIM:540000	ND1	4535	HP:0000093	Proteinuria
OMIM:540000	ND1	4535	HP:0002514	Cerebral calcification
OMIM:540000	ND1	4535	HP:0000726	Dementia
OMIM:540000	ND1	4535	HP:0001712	Left ventricular hypertrophy
OMIM:540000	ND1	4535	HP:0002204	Pulmonary embolism
OMIM:540000	ND1	4535	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	ND1	4535	HP:0000508	Ptosis
OMIM:540000	ND1	4535	HP:0000738	Hallucinations
OMIM:540000	ND1	4535	HP:0002039	Anorexia
OMIM:540000	ND1	4535	HP:0002353	EEG abnormality
OMIM:540000	ND1	4535	HP:0000821	Hypothyroidism
OMIM:540000	ND1	4535	HP:0001298	Encephalopathy
OMIM:540000	ND1	4535	HP:0000836	Hyperthyroidism
OMIM:540000	ND1	4535	HP:0100576	Amaurosis fugax
OMIM:540000	ND1	4535	HP:0000830	Anterior hypopituitarism
OMIM:540000	ND1	4535	HP:0004322	Short stature
OMIM:540000	ND1	4535	HP:0005214	Intestinal obstruction
OMIM:540000	ND1	4535	HP:0000377	Abnormality of the pinna
OMIM:540000	ND1	4535	HP:0000083	Renal insufficiency
OMIM:540000	ND1	4535	HP:0004372	Reduced consciousness/confusion
OMIM:540000	ND1	4535	HP:0001123	Visual field defect
OMIM:540000	ND1	4535	HP:0002269	Abnormality of neuronal migration
OMIM:540000	ND1	4535	HP:0001507	Growth abnormality
OMIM:540000	ND1	4535	HP:0100646	Thyroiditis
OMIM:540000	ND1	4535	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	ND1	4535	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	ND1	4535	HP:0000316	Hypertelorism
OMIM:540000	ND1	4535	HP:0001427	Mitochondrial inheritance
OMIM:540000	ND1	4535	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	ND1	4535	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	ND1	4535	HP:0000670	Carious teeth
OMIM:540000	ND1	4535	HP:0002024	Malabsorption
OMIM:540000	ND1	4535	HP:0000100	Nephrotic syndrome
OMIM:540000	ND1	4535	HP:0000505	Visual impairment
OMIM:540000	ND1	4535	HP:0001252	Muscular hypotonia
OMIM:540000	ND1	4535	HP:0002376	Developmental regression
OMIM:540000	ND1	4535	HP:0001645	Sudden cardiac death
OMIM:540000	ND1	4535	HP:0005978	Type II diabetes mellitus
OMIM:540000	ND1	4535	HP:0000717	Autism
OMIM:540000	ND1	4535	HP:0000597	Ophthalmoparesis
OMIM:540000	ND1	4535	HP:0000091	Abnormality of the renal tubule
OMIM:540000	ND1	4535	HP:0000212	Gingival overgrowth
OMIM:540000	ND1	4535	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	ND1	4535	HP:0002093	Respiratory insufficiency
OMIM:540000	ND1	4535	HP:0000518	Cataract
OMIM:540000	ND1	4535	HP:0000298	Mask-like facies
OMIM:540000	ND1	4535	HP:0002120	Cerebral cortical atrophy
OMIM:540000	ND1	4535	HP:0000252	Microcephaly
OMIM:540000	ND1	4535	HP:0000602	Ophthalmoplegia
OMIM:540000	ND1	4535	HP:0001733	Pancreatitis
OMIM:540000	ND1	4535	HP:0001053	Hypopigmented skin patches
OMIM:540000	ND1	4535	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	ND1	4535	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	ND1	4535	HP:0002750	Delayed skeletal maturation
OMIM:540000	ND1	4535	HP:0000407	Sensorineural hearing impairment
OMIM:540000	ND1	4535	HP:0002017	Nausea and vomiting
OMIM:540000	ND1	4535	HP:0000998	Hypertrichosis
OMIM:540000	ND1	4535	HP:0003326	Myalgia
OMIM:540000	ND1	4535	HP:0004305	Involuntary movements
OMIM:540000	TRNL1	4567	HP:0000822	Hypertension
OMIM:540000	TRNL1	4567	HP:0003198	Myopathy
OMIM:540000	TRNL1	4567	HP:0000819	Diabetes mellitus
OMIM:540000	TRNL1	4567	HP:0002076	Migraine
OMIM:540000	TRNL1	4567	HP:0002104	Apnea
OMIM:540000	TRNL1	4567	HP:0002354	Memory impairment
OMIM:540000	TRNL1	4567	HP:0001724	Aortic dilatation
OMIM:540000	TRNL1	4567	HP:0003128	Lactic acidosis
OMIM:540000	TRNL1	4567	HP:0004370	Abnormality of temperature regulation
OMIM:540000	TRNL1	4567	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNL1	4567	HP:0008064	Ichthyosis
OMIM:540000	TRNL1	4567	HP:0002311	Incoordination
OMIM:540000	TRNL1	4567	HP:0002150	Hypercalciuria
OMIM:540000	TRNL1	4567	HP:0001324	Muscle weakness
OMIM:540000	TRNL1	4567	HP:0002027	Abdominal pain
OMIM:540000	TRNL1	4567	HP:0004325	Decreased body weight
OMIM:540000	TRNL1	4567	HP:0000853	Goiter
OMIM:540000	TRNL1	4567	HP:0001103	Abnormality of the macula
OMIM:540000	TRNL1	4567	HP:0002167	Neurological speech impairment
OMIM:540000	TRNL1	4567	HP:0003202	Skeletal muscle atrophy
OMIM:540000	TRNL1	4567	HP:0008872	Feeding difficulties in infancy
OMIM:540000	TRNL1	4567	HP:0000078	Abnormality of the genital system
OMIM:540000	TRNL1	4567	HP:0001337	Tremor
OMIM:540000	TRNL1	4567	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	TRNL1	4567	HP:0002019	Constipation
OMIM:540000	TRNL1	4567	HP:0000648	Optic atrophy
OMIM:540000	TRNL1	4567	HP:0008207	Primary adrenal insufficiency
OMIM:540000	TRNL1	4567	HP:0000519	Congenital cataract
OMIM:540000	TRNL1	4567	HP:0001635	Congestive heart failure
OMIM:540000	TRNL1	4567	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	TRNL1	4567	HP:0001315	Reduced tendon reflexes
OMIM:540000	TRNL1	4567	HP:0002637	Cerebral ischemia
OMIM:540000	TRNL1	4567	HP:0002119	Ventriculomegaly
OMIM:540000	TRNL1	4567	HP:0100704	Cortical visual impairment
OMIM:540000	TRNL1	4567	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	TRNL1	4567	HP:0000829	Hypoparathyroidism
OMIM:540000	TRNL1	4567	HP:0003401	Paresthesia
OMIM:540000	TRNL1	4567	HP:0003457	EMG abnormality
OMIM:540000	TRNL1	4567	HP:0000662	Nyctalopia
OMIM:540000	TRNL1	4567	HP:0001392	Abnormality of the liver
OMIM:540000	TRNL1	4567	HP:0000093	Proteinuria
OMIM:540000	TRNL1	4567	HP:0002514	Cerebral calcification
OMIM:540000	TRNL1	4567	HP:0000726	Dementia
OMIM:540000	TRNL1	4567	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNL1	4567	HP:0002204	Pulmonary embolism
OMIM:540000	TRNL1	4567	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	TRNL1	4567	HP:0000508	Ptosis
OMIM:540000	TRNL1	4567	HP:0000738	Hallucinations
OMIM:540000	TRNL1	4567	HP:0002039	Anorexia
OMIM:540000	TRNL1	4567	HP:0002353	EEG abnormality
OMIM:540000	TRNL1	4567	HP:0000821	Hypothyroidism
OMIM:540000	TRNL1	4567	HP:0001298	Encephalopathy
OMIM:540000	TRNL1	4567	HP:0000836	Hyperthyroidism
OMIM:540000	TRNL1	4567	HP:0100576	Amaurosis fugax
OMIM:540000	TRNL1	4567	HP:0000830	Anterior hypopituitarism
OMIM:540000	TRNL1	4567	HP:0004322	Short stature
OMIM:540000	TRNL1	4567	HP:0005214	Intestinal obstruction
OMIM:540000	TRNL1	4567	HP:0000377	Abnormality of the pinna
OMIM:540000	TRNL1	4567	HP:0000083	Renal insufficiency
OMIM:540000	TRNL1	4567	HP:0004372	Reduced consciousness/confusion
OMIM:540000	TRNL1	4567	HP:0001123	Visual field defect
OMIM:540000	TRNL1	4567	HP:0002269	Abnormality of neuronal migration
OMIM:540000	TRNL1	4567	HP:0001507	Growth abnormality
OMIM:540000	TRNL1	4567	HP:0100646	Thyroiditis
OMIM:540000	TRNL1	4567	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	TRNL1	4567	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	TRNL1	4567	HP:0000316	Hypertelorism
OMIM:540000	TRNL1	4567	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNL1	4567	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	TRNL1	4567	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	TRNL1	4567	HP:0000670	Carious teeth
OMIM:540000	TRNL1	4567	HP:0002024	Malabsorption
OMIM:540000	TRNL1	4567	HP:0000100	Nephrotic syndrome
OMIM:540000	TRNL1	4567	HP:0000505	Visual impairment
OMIM:540000	TRNL1	4567	HP:0001252	Muscular hypotonia
OMIM:540000	TRNL1	4567	HP:0002376	Developmental regression
OMIM:540000	TRNL1	4567	HP:0001645	Sudden cardiac death
OMIM:540000	TRNL1	4567	HP:0005978	Type II diabetes mellitus
OMIM:540000	TRNL1	4567	HP:0000717	Autism
OMIM:540000	TRNL1	4567	HP:0000597	Ophthalmoparesis
OMIM:540000	TRNL1	4567	HP:0000091	Abnormality of the renal tubule
OMIM:540000	TRNL1	4567	HP:0000212	Gingival overgrowth
OMIM:540000	TRNL1	4567	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNL1	4567	HP:0002093	Respiratory insufficiency
OMIM:540000	TRNL1	4567	HP:0000518	Cataract
OMIM:540000	TRNL1	4567	HP:0000298	Mask-like facies
OMIM:540000	TRNL1	4567	HP:0002120	Cerebral cortical atrophy
OMIM:540000	TRNL1	4567	HP:0000252	Microcephaly
OMIM:540000	TRNL1	4567	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNL1	4567	HP:0001733	Pancreatitis
OMIM:540000	TRNL1	4567	HP:0001053	Hypopigmented skin patches
OMIM:540000	TRNL1	4567	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	TRNL1	4567	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNL1	4567	HP:0002750	Delayed skeletal maturation
OMIM:540000	TRNL1	4567	HP:0000407	Sensorineural hearing impairment
OMIM:540000	TRNL1	4567	HP:0002017	Nausea and vomiting
OMIM:540000	TRNL1	4567	HP:0000998	Hypertrichosis
OMIM:540000	TRNL1	4567	HP:0003326	Myalgia
OMIM:540000	TRNL1	4567	HP:0004305	Involuntary movements
OMIM:540000	ND4	4538	HP:0000822	Hypertension
OMIM:540000	ND4	4538	HP:0003198	Myopathy
OMIM:540000	ND4	4538	HP:0000819	Diabetes mellitus
OMIM:540000	ND4	4538	HP:0002076	Migraine
OMIM:540000	ND4	4538	HP:0002104	Apnea
OMIM:540000	ND4	4538	HP:0002354	Memory impairment
OMIM:540000	ND4	4538	HP:0001724	Aortic dilatation
OMIM:540000	ND4	4538	HP:0003128	Lactic acidosis
OMIM:540000	ND4	4538	HP:0004370	Abnormality of temperature regulation
OMIM:540000	ND4	4538	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	ND4	4538	HP:0008064	Ichthyosis
OMIM:540000	ND4	4538	HP:0002311	Incoordination
OMIM:540000	ND4	4538	HP:0002150	Hypercalciuria
OMIM:540000	ND4	4538	HP:0001324	Muscle weakness
OMIM:540000	ND4	4538	HP:0002027	Abdominal pain
OMIM:540000	ND4	4538	HP:0004325	Decreased body weight
OMIM:540000	ND4	4538	HP:0000853	Goiter
OMIM:540000	ND4	4538	HP:0001103	Abnormality of the macula
OMIM:540000	ND4	4538	HP:0002167	Neurological speech impairment
OMIM:540000	ND4	4538	HP:0003202	Skeletal muscle atrophy
OMIM:540000	ND4	4538	HP:0008872	Feeding difficulties in infancy
OMIM:540000	ND4	4538	HP:0000078	Abnormality of the genital system
OMIM:540000	ND4	4538	HP:0001337	Tremor
OMIM:540000	ND4	4538	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	ND4	4538	HP:0002019	Constipation
OMIM:540000	ND4	4538	HP:0000648	Optic atrophy
OMIM:540000	ND4	4538	HP:0008207	Primary adrenal insufficiency
OMIM:540000	ND4	4538	HP:0000519	Congenital cataract
OMIM:540000	ND4	4538	HP:0001635	Congestive heart failure
OMIM:540000	ND4	4538	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	ND4	4538	HP:0001315	Reduced tendon reflexes
OMIM:540000	ND4	4538	HP:0002637	Cerebral ischemia
OMIM:540000	ND4	4538	HP:0002119	Ventriculomegaly
OMIM:540000	ND4	4538	HP:0100704	Cortical visual impairment
OMIM:540000	ND4	4538	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	ND4	4538	HP:0000829	Hypoparathyroidism
OMIM:540000	ND4	4538	HP:0003401	Paresthesia
OMIM:540000	ND4	4538	HP:0003457	EMG abnormality
OMIM:540000	ND4	4538	HP:0000662	Nyctalopia
OMIM:540000	ND4	4538	HP:0001392	Abnormality of the liver
OMIM:540000	ND4	4538	HP:0000093	Proteinuria
OMIM:540000	ND4	4538	HP:0002514	Cerebral calcification
OMIM:540000	ND4	4538	HP:0000726	Dementia
OMIM:540000	ND4	4538	HP:0001712	Left ventricular hypertrophy
OMIM:540000	ND4	4538	HP:0002204	Pulmonary embolism
OMIM:540000	ND4	4538	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	ND4	4538	HP:0000508	Ptosis
OMIM:540000	ND4	4538	HP:0000738	Hallucinations
OMIM:540000	ND4	4538	HP:0002039	Anorexia
OMIM:540000	ND4	4538	HP:0002353	EEG abnormality
OMIM:540000	ND4	4538	HP:0000821	Hypothyroidism
OMIM:540000	ND4	4538	HP:0001298	Encephalopathy
OMIM:540000	ND4	4538	HP:0000836	Hyperthyroidism
OMIM:540000	ND4	4538	HP:0100576	Amaurosis fugax
OMIM:540000	ND4	4538	HP:0000830	Anterior hypopituitarism
OMIM:540000	ND4	4538	HP:0004322	Short stature
OMIM:540000	ND4	4538	HP:0005214	Intestinal obstruction
OMIM:540000	ND4	4538	HP:0000377	Abnormality of the pinna
OMIM:540000	ND4	4538	HP:0000083	Renal insufficiency
OMIM:540000	ND4	4538	HP:0004372	Reduced consciousness/confusion
OMIM:540000	ND4	4538	HP:0001123	Visual field defect
OMIM:540000	ND4	4538	HP:0002269	Abnormality of neuronal migration
OMIM:540000	ND4	4538	HP:0001507	Growth abnormality
OMIM:540000	ND4	4538	HP:0100646	Thyroiditis
OMIM:540000	ND4	4538	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	ND4	4538	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	ND4	4538	HP:0000316	Hypertelorism
OMIM:540000	ND4	4538	HP:0001427	Mitochondrial inheritance
OMIM:540000	ND4	4538	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	ND4	4538	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	ND4	4538	HP:0000670	Carious teeth
OMIM:540000	ND4	4538	HP:0002024	Malabsorption
OMIM:540000	ND4	4538	HP:0000100	Nephrotic syndrome
OMIM:540000	ND4	4538	HP:0000505	Visual impairment
OMIM:540000	ND4	4538	HP:0001252	Muscular hypotonia
OMIM:540000	ND4	4538	HP:0002376	Developmental regression
OMIM:540000	ND4	4538	HP:0001645	Sudden cardiac death
OMIM:540000	ND4	4538	HP:0005978	Type II diabetes mellitus
OMIM:540000	ND4	4538	HP:0000717	Autism
OMIM:540000	ND4	4538	HP:0000597	Ophthalmoparesis
OMIM:540000	ND4	4538	HP:0000091	Abnormality of the renal tubule
OMIM:540000	ND4	4538	HP:0000212	Gingival overgrowth
OMIM:540000	ND4	4538	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	ND4	4538	HP:0002093	Respiratory insufficiency
OMIM:540000	ND4	4538	HP:0000518	Cataract
OMIM:540000	ND4	4538	HP:0000298	Mask-like facies
OMIM:540000	ND4	4538	HP:0002120	Cerebral cortical atrophy
OMIM:540000	ND4	4538	HP:0000252	Microcephaly
OMIM:540000	ND4	4538	HP:0000602	Ophthalmoplegia
OMIM:540000	ND4	4538	HP:0001733	Pancreatitis
OMIM:540000	ND4	4538	HP:0001053	Hypopigmented skin patches
OMIM:540000	ND4	4538	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	ND4	4538	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	ND4	4538	HP:0002750	Delayed skeletal maturation
OMIM:540000	ND4	4538	HP:0000407	Sensorineural hearing impairment
OMIM:540000	ND4	4538	HP:0002017	Nausea and vomiting
OMIM:540000	ND4	4538	HP:0000998	Hypertrichosis
OMIM:540000	ND4	4538	HP:0003326	Myalgia
OMIM:540000	ND4	4538	HP:0004305	Involuntary movements
OMIM:540000	ND5	4540	HP:0000822	Hypertension
OMIM:540000	ND5	4540	HP:0003198	Myopathy
OMIM:540000	ND5	4540	HP:0000819	Diabetes mellitus
OMIM:540000	ND5	4540	HP:0002076	Migraine
OMIM:540000	ND5	4540	HP:0002104	Apnea
OMIM:540000	ND5	4540	HP:0002354	Memory impairment
OMIM:540000	ND5	4540	HP:0001724	Aortic dilatation
OMIM:540000	ND5	4540	HP:0003128	Lactic acidosis
OMIM:540000	ND5	4540	HP:0004370	Abnormality of temperature regulation
OMIM:540000	ND5	4540	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	ND5	4540	HP:0008064	Ichthyosis
OMIM:540000	ND5	4540	HP:0002311	Incoordination
OMIM:540000	ND5	4540	HP:0002150	Hypercalciuria
OMIM:540000	ND5	4540	HP:0001324	Muscle weakness
OMIM:540000	ND5	4540	HP:0002027	Abdominal pain
OMIM:540000	ND5	4540	HP:0004325	Decreased body weight
OMIM:540000	ND5	4540	HP:0000853	Goiter
OMIM:540000	ND5	4540	HP:0001103	Abnormality of the macula
OMIM:540000	ND5	4540	HP:0002167	Neurological speech impairment
OMIM:540000	ND5	4540	HP:0003202	Skeletal muscle atrophy
OMIM:540000	ND5	4540	HP:0008872	Feeding difficulties in infancy
OMIM:540000	ND5	4540	HP:0000078	Abnormality of the genital system
OMIM:540000	ND5	4540	HP:0001337	Tremor
OMIM:540000	ND5	4540	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	ND5	4540	HP:0002019	Constipation
OMIM:540000	ND5	4540	HP:0000648	Optic atrophy
OMIM:540000	ND5	4540	HP:0008207	Primary adrenal insufficiency
OMIM:540000	ND5	4540	HP:0000519	Congenital cataract
OMIM:540000	ND5	4540	HP:0001635	Congestive heart failure
OMIM:540000	ND5	4540	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	ND5	4540	HP:0001315	Reduced tendon reflexes
OMIM:540000	ND5	4540	HP:0002637	Cerebral ischemia
OMIM:540000	ND5	4540	HP:0002119	Ventriculomegaly
OMIM:540000	ND5	4540	HP:0100704	Cortical visual impairment
OMIM:540000	ND5	4540	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	ND5	4540	HP:0000829	Hypoparathyroidism
OMIM:540000	ND5	4540	HP:0003401	Paresthesia
OMIM:540000	ND5	4540	HP:0003457	EMG abnormality
OMIM:540000	ND5	4540	HP:0000662	Nyctalopia
OMIM:540000	ND5	4540	HP:0001392	Abnormality of the liver
OMIM:540000	ND5	4540	HP:0000093	Proteinuria
OMIM:540000	ND5	4540	HP:0002514	Cerebral calcification
OMIM:540000	ND5	4540	HP:0000726	Dementia
OMIM:540000	ND5	4540	HP:0001712	Left ventricular hypertrophy
OMIM:540000	ND5	4540	HP:0002204	Pulmonary embolism
OMIM:540000	ND5	4540	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	ND5	4540	HP:0000508	Ptosis
OMIM:540000	ND5	4540	HP:0000738	Hallucinations
OMIM:540000	ND5	4540	HP:0002039	Anorexia
OMIM:540000	ND5	4540	HP:0002353	EEG abnormality
OMIM:540000	ND5	4540	HP:0000821	Hypothyroidism
OMIM:540000	ND5	4540	HP:0001298	Encephalopathy
OMIM:540000	ND5	4540	HP:0000836	Hyperthyroidism
OMIM:540000	ND5	4540	HP:0100576	Amaurosis fugax
OMIM:540000	ND5	4540	HP:0000830	Anterior hypopituitarism
OMIM:540000	ND5	4540	HP:0004322	Short stature
OMIM:540000	ND5	4540	HP:0005214	Intestinal obstruction
OMIM:540000	ND5	4540	HP:0000377	Abnormality of the pinna
OMIM:540000	ND5	4540	HP:0000083	Renal insufficiency
OMIM:540000	ND5	4540	HP:0004372	Reduced consciousness/confusion
OMIM:540000	ND5	4540	HP:0001123	Visual field defect
OMIM:540000	ND5	4540	HP:0002269	Abnormality of neuronal migration
OMIM:540000	ND5	4540	HP:0001507	Growth abnormality
OMIM:540000	ND5	4540	HP:0100646	Thyroiditis
OMIM:540000	ND5	4540	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	ND5	4540	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	ND5	4540	HP:0000316	Hypertelorism
OMIM:540000	ND5	4540	HP:0001427	Mitochondrial inheritance
OMIM:540000	ND5	4540	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	ND5	4540	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	ND5	4540	HP:0000670	Carious teeth
OMIM:540000	ND5	4540	HP:0002024	Malabsorption
OMIM:540000	ND5	4540	HP:0000100	Nephrotic syndrome
OMIM:540000	ND5	4540	HP:0000505	Visual impairment
OMIM:540000	ND5	4540	HP:0001252	Muscular hypotonia
OMIM:540000	ND5	4540	HP:0002376	Developmental regression
OMIM:540000	ND5	4540	HP:0001645	Sudden cardiac death
OMIM:540000	ND5	4540	HP:0005978	Type II diabetes mellitus
OMIM:540000	ND5	4540	HP:0000717	Autism
OMIM:540000	ND5	4540	HP:0000597	Ophthalmoparesis
OMIM:540000	ND5	4540	HP:0000091	Abnormality of the renal tubule
OMIM:540000	ND5	4540	HP:0000212	Gingival overgrowth
OMIM:540000	ND5	4540	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	ND5	4540	HP:0002093	Respiratory insufficiency
OMIM:540000	ND5	4540	HP:0000518	Cataract
OMIM:540000	ND5	4540	HP:0000298	Mask-like facies
OMIM:540000	ND5	4540	HP:0002120	Cerebral cortical atrophy
OMIM:540000	ND5	4540	HP:0000252	Microcephaly
OMIM:540000	ND5	4540	HP:0000602	Ophthalmoplegia
OMIM:540000	ND5	4540	HP:0001733	Pancreatitis
OMIM:540000	ND5	4540	HP:0001053	Hypopigmented skin patches
OMIM:540000	ND5	4540	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	ND5	4540	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	ND5	4540	HP:0002750	Delayed skeletal maturation
OMIM:540000	ND5	4540	HP:0000407	Sensorineural hearing impairment
OMIM:540000	ND5	4540	HP:0002017	Nausea and vomiting
OMIM:540000	ND5	4540	HP:0000998	Hypertrichosis
OMIM:540000	ND5	4540	HP:0003326	Myalgia
OMIM:540000	ND5	4540	HP:0004305	Involuntary movements
OMIM:540000	TRNQ	4572	HP:0000822	Hypertension
OMIM:540000	TRNQ	4572	HP:0003198	Myopathy
OMIM:540000	TRNQ	4572	HP:0000819	Diabetes mellitus
OMIM:540000	TRNQ	4572	HP:0002076	Migraine
OMIM:540000	TRNQ	4572	HP:0002104	Apnea
OMIM:540000	TRNQ	4572	HP:0002354	Memory impairment
OMIM:540000	TRNQ	4572	HP:0001724	Aortic dilatation
OMIM:540000	TRNQ	4572	HP:0003128	Lactic acidosis
OMIM:540000	TRNQ	4572	HP:0004370	Abnormality of temperature regulation
OMIM:540000	TRNQ	4572	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNQ	4572	HP:0008064	Ichthyosis
OMIM:540000	TRNQ	4572	HP:0002311	Incoordination
OMIM:540000	TRNQ	4572	HP:0002150	Hypercalciuria
OMIM:540000	TRNQ	4572	HP:0001324	Muscle weakness
OMIM:540000	TRNQ	4572	HP:0002027	Abdominal pain
OMIM:540000	TRNQ	4572	HP:0004325	Decreased body weight
OMIM:540000	TRNQ	4572	HP:0000853	Goiter
OMIM:540000	TRNQ	4572	HP:0001103	Abnormality of the macula
OMIM:540000	TRNQ	4572	HP:0002167	Neurological speech impairment
OMIM:540000	TRNQ	4572	HP:0003202	Skeletal muscle atrophy
OMIM:540000	TRNQ	4572	HP:0008872	Feeding difficulties in infancy
OMIM:540000	TRNQ	4572	HP:0000078	Abnormality of the genital system
OMIM:540000	TRNQ	4572	HP:0001337	Tremor
OMIM:540000	TRNQ	4572	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	TRNQ	4572	HP:0002019	Constipation
OMIM:540000	TRNQ	4572	HP:0000648	Optic atrophy
OMIM:540000	TRNQ	4572	HP:0008207	Primary adrenal insufficiency
OMIM:540000	TRNQ	4572	HP:0000519	Congenital cataract
OMIM:540000	TRNQ	4572	HP:0001635	Congestive heart failure
OMIM:540000	TRNQ	4572	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	TRNQ	4572	HP:0001315	Reduced tendon reflexes
OMIM:540000	TRNQ	4572	HP:0002637	Cerebral ischemia
OMIM:540000	TRNQ	4572	HP:0002119	Ventriculomegaly
OMIM:540000	TRNQ	4572	HP:0100704	Cortical visual impairment
OMIM:540000	TRNQ	4572	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	TRNQ	4572	HP:0000829	Hypoparathyroidism
OMIM:540000	TRNQ	4572	HP:0003401	Paresthesia
OMIM:540000	TRNQ	4572	HP:0003457	EMG abnormality
OMIM:540000	TRNQ	4572	HP:0000662	Nyctalopia
OMIM:540000	TRNQ	4572	HP:0001392	Abnormality of the liver
OMIM:540000	TRNQ	4572	HP:0000093	Proteinuria
OMIM:540000	TRNQ	4572	HP:0002514	Cerebral calcification
OMIM:540000	TRNQ	4572	HP:0000726	Dementia
OMIM:540000	TRNQ	4572	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNQ	4572	HP:0002204	Pulmonary embolism
OMIM:540000	TRNQ	4572	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	TRNQ	4572	HP:0000508	Ptosis
OMIM:540000	TRNQ	4572	HP:0000738	Hallucinations
OMIM:540000	TRNQ	4572	HP:0002039	Anorexia
OMIM:540000	TRNQ	4572	HP:0002353	EEG abnormality
OMIM:540000	TRNQ	4572	HP:0000821	Hypothyroidism
OMIM:540000	TRNQ	4572	HP:0001298	Encephalopathy
OMIM:540000	TRNQ	4572	HP:0000836	Hyperthyroidism
OMIM:540000	TRNQ	4572	HP:0100576	Amaurosis fugax
OMIM:540000	TRNQ	4572	HP:0000830	Anterior hypopituitarism
OMIM:540000	TRNQ	4572	HP:0004322	Short stature
OMIM:540000	TRNQ	4572	HP:0005214	Intestinal obstruction
OMIM:540000	TRNQ	4572	HP:0000377	Abnormality of the pinna
OMIM:540000	TRNQ	4572	HP:0000083	Renal insufficiency
OMIM:540000	TRNQ	4572	HP:0004372	Reduced consciousness/confusion
OMIM:540000	TRNQ	4572	HP:0001123	Visual field defect
OMIM:540000	TRNQ	4572	HP:0002269	Abnormality of neuronal migration
OMIM:540000	TRNQ	4572	HP:0001507	Growth abnormality
OMIM:540000	TRNQ	4572	HP:0100646	Thyroiditis
OMIM:540000	TRNQ	4572	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	TRNQ	4572	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	TRNQ	4572	HP:0000316	Hypertelorism
OMIM:540000	TRNQ	4572	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNQ	4572	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	TRNQ	4572	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	TRNQ	4572	HP:0000670	Carious teeth
OMIM:540000	TRNQ	4572	HP:0002024	Malabsorption
OMIM:540000	TRNQ	4572	HP:0000100	Nephrotic syndrome
OMIM:540000	TRNQ	4572	HP:0000505	Visual impairment
OMIM:540000	TRNQ	4572	HP:0001252	Muscular hypotonia
OMIM:540000	TRNQ	4572	HP:0002376	Developmental regression
OMIM:540000	TRNQ	4572	HP:0001645	Sudden cardiac death
OMIM:540000	TRNQ	4572	HP:0005978	Type II diabetes mellitus
OMIM:540000	TRNQ	4572	HP:0000717	Autism
OMIM:540000	TRNQ	4572	HP:0000597	Ophthalmoparesis
OMIM:540000	TRNQ	4572	HP:0000091	Abnormality of the renal tubule
OMIM:540000	TRNQ	4572	HP:0000212	Gingival overgrowth
OMIM:540000	TRNQ	4572	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNQ	4572	HP:0002093	Respiratory insufficiency
OMIM:540000	TRNQ	4572	HP:0000518	Cataract
OMIM:540000	TRNQ	4572	HP:0000298	Mask-like facies
OMIM:540000	TRNQ	4572	HP:0002120	Cerebral cortical atrophy
OMIM:540000	TRNQ	4572	HP:0000252	Microcephaly
OMIM:540000	TRNQ	4572	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNQ	4572	HP:0001733	Pancreatitis
OMIM:540000	TRNQ	4572	HP:0001053	Hypopigmented skin patches
OMIM:540000	TRNQ	4572	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	TRNQ	4572	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNQ	4572	HP:0002750	Delayed skeletal maturation
OMIM:540000	TRNQ	4572	HP:0000407	Sensorineural hearing impairment
OMIM:540000	TRNQ	4572	HP:0002017	Nausea and vomiting
OMIM:540000	TRNQ	4572	HP:0000998	Hypertrichosis
OMIM:540000	TRNQ	4572	HP:0003326	Myalgia
OMIM:540000	TRNQ	4572	HP:0004305	Involuntary movements
OMIM:540000	ND6	4541	HP:0000822	Hypertension
OMIM:540000	ND6	4541	HP:0003198	Myopathy
OMIM:540000	ND6	4541	HP:0000819	Diabetes mellitus
OMIM:540000	ND6	4541	HP:0002076	Migraine
OMIM:540000	ND6	4541	HP:0002104	Apnea
OMIM:540000	ND6	4541	HP:0002354	Memory impairment
OMIM:540000	ND6	4541	HP:0001724	Aortic dilatation
OMIM:540000	ND6	4541	HP:0003128	Lactic acidosis
OMIM:540000	ND6	4541	HP:0004370	Abnormality of temperature regulation
OMIM:540000	ND6	4541	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	ND6	4541	HP:0008064	Ichthyosis
OMIM:540000	ND6	4541	HP:0002311	Incoordination
OMIM:540000	ND6	4541	HP:0002150	Hypercalciuria
OMIM:540000	ND6	4541	HP:0001324	Muscle weakness
OMIM:540000	ND6	4541	HP:0002027	Abdominal pain
OMIM:540000	ND6	4541	HP:0004325	Decreased body weight
OMIM:540000	ND6	4541	HP:0000853	Goiter
OMIM:540000	ND6	4541	HP:0001103	Abnormality of the macula
OMIM:540000	ND6	4541	HP:0002167	Neurological speech impairment
OMIM:540000	ND6	4541	HP:0003202	Skeletal muscle atrophy
OMIM:540000	ND6	4541	HP:0008872	Feeding difficulties in infancy
OMIM:540000	ND6	4541	HP:0000078	Abnormality of the genital system
OMIM:540000	ND6	4541	HP:0001337	Tremor
OMIM:540000	ND6	4541	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	ND6	4541	HP:0002019	Constipation
OMIM:540000	ND6	4541	HP:0000648	Optic atrophy
OMIM:540000	ND6	4541	HP:0008207	Primary adrenal insufficiency
OMIM:540000	ND6	4541	HP:0000519	Congenital cataract
OMIM:540000	ND6	4541	HP:0001635	Congestive heart failure
OMIM:540000	ND6	4541	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	ND6	4541	HP:0001315	Reduced tendon reflexes
OMIM:540000	ND6	4541	HP:0002637	Cerebral ischemia
OMIM:540000	ND6	4541	HP:0002119	Ventriculomegaly
OMIM:540000	ND6	4541	HP:0100704	Cortical visual impairment
OMIM:540000	ND6	4541	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	ND6	4541	HP:0000829	Hypoparathyroidism
OMIM:540000	ND6	4541	HP:0003401	Paresthesia
OMIM:540000	ND6	4541	HP:0003457	EMG abnormality
OMIM:540000	ND6	4541	HP:0000662	Nyctalopia
OMIM:540000	ND6	4541	HP:0001392	Abnormality of the liver
OMIM:540000	ND6	4541	HP:0000093	Proteinuria
OMIM:540000	ND6	4541	HP:0002514	Cerebral calcification
OMIM:540000	ND6	4541	HP:0000726	Dementia
OMIM:540000	ND6	4541	HP:0001712	Left ventricular hypertrophy
OMIM:540000	ND6	4541	HP:0002204	Pulmonary embolism
OMIM:540000	ND6	4541	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	ND6	4541	HP:0000508	Ptosis
OMIM:540000	ND6	4541	HP:0000738	Hallucinations
OMIM:540000	ND6	4541	HP:0002039	Anorexia
OMIM:540000	ND6	4541	HP:0002353	EEG abnormality
OMIM:540000	ND6	4541	HP:0000821	Hypothyroidism
OMIM:540000	ND6	4541	HP:0001298	Encephalopathy
OMIM:540000	ND6	4541	HP:0000836	Hyperthyroidism
OMIM:540000	ND6	4541	HP:0100576	Amaurosis fugax
OMIM:540000	ND6	4541	HP:0000830	Anterior hypopituitarism
OMIM:540000	ND6	4541	HP:0004322	Short stature
OMIM:540000	ND6	4541	HP:0005214	Intestinal obstruction
OMIM:540000	ND6	4541	HP:0000377	Abnormality of the pinna
OMIM:540000	ND6	4541	HP:0000083	Renal insufficiency
OMIM:540000	ND6	4541	HP:0004372	Reduced consciousness/confusion
OMIM:540000	ND6	4541	HP:0001123	Visual field defect
OMIM:540000	ND6	4541	HP:0002269	Abnormality of neuronal migration
OMIM:540000	ND6	4541	HP:0001507	Growth abnormality
OMIM:540000	ND6	4541	HP:0100646	Thyroiditis
OMIM:540000	ND6	4541	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	ND6	4541	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	ND6	4541	HP:0000316	Hypertelorism
OMIM:540000	ND6	4541	HP:0001427	Mitochondrial inheritance
OMIM:540000	ND6	4541	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	ND6	4541	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	ND6	4541	HP:0000670	Carious teeth
OMIM:540000	ND6	4541	HP:0002024	Malabsorption
OMIM:540000	ND6	4541	HP:0000100	Nephrotic syndrome
OMIM:540000	ND6	4541	HP:0000505	Visual impairment
OMIM:540000	ND6	4541	HP:0001252	Muscular hypotonia
OMIM:540000	ND6	4541	HP:0002376	Developmental regression
OMIM:540000	ND6	4541	HP:0001645	Sudden cardiac death
OMIM:540000	ND6	4541	HP:0005978	Type II diabetes mellitus
OMIM:540000	ND6	4541	HP:0000717	Autism
OMIM:540000	ND6	4541	HP:0000597	Ophthalmoparesis
OMIM:540000	ND6	4541	HP:0000091	Abnormality of the renal tubule
OMIM:540000	ND6	4541	HP:0000212	Gingival overgrowth
OMIM:540000	ND6	4541	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	ND6	4541	HP:0002093	Respiratory insufficiency
OMIM:540000	ND6	4541	HP:0000518	Cataract
OMIM:540000	ND6	4541	HP:0000298	Mask-like facies
OMIM:540000	ND6	4541	HP:0002120	Cerebral cortical atrophy
OMIM:540000	ND6	4541	HP:0000252	Microcephaly
OMIM:540000	ND6	4541	HP:0000602	Ophthalmoplegia
OMIM:540000	ND6	4541	HP:0001733	Pancreatitis
OMIM:540000	ND6	4541	HP:0001053	Hypopigmented skin patches
OMIM:540000	ND6	4541	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	ND6	4541	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	ND6	4541	HP:0002750	Delayed skeletal maturation
OMIM:540000	ND6	4541	HP:0000407	Sensorineural hearing impairment
OMIM:540000	ND6	4541	HP:0002017	Nausea and vomiting
OMIM:540000	ND6	4541	HP:0000998	Hypertrichosis
OMIM:540000	ND6	4541	HP:0003326	Myalgia
OMIM:540000	ND6	4541	HP:0004305	Involuntary movements
OMIM:540000	TRNS1	4574	HP:0000822	Hypertension
OMIM:540000	TRNS1	4574	HP:0003198	Myopathy
OMIM:540000	TRNS1	4574	HP:0000819	Diabetes mellitus
OMIM:540000	TRNS1	4574	HP:0002076	Migraine
OMIM:540000	TRNS1	4574	HP:0002104	Apnea
OMIM:540000	TRNS1	4574	HP:0002354	Memory impairment
OMIM:540000	TRNS1	4574	HP:0001724	Aortic dilatation
OMIM:540000	TRNS1	4574	HP:0003128	Lactic acidosis
OMIM:540000	TRNS1	4574	HP:0004370	Abnormality of temperature regulation
OMIM:540000	TRNS1	4574	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNS1	4574	HP:0008064	Ichthyosis
OMIM:540000	TRNS1	4574	HP:0002311	Incoordination
OMIM:540000	TRNS1	4574	HP:0002150	Hypercalciuria
OMIM:540000	TRNS1	4574	HP:0001324	Muscle weakness
OMIM:540000	TRNS1	4574	HP:0002027	Abdominal pain
OMIM:540000	TRNS1	4574	HP:0004325	Decreased body weight
OMIM:540000	TRNS1	4574	HP:0000853	Goiter
OMIM:540000	TRNS1	4574	HP:0001103	Abnormality of the macula
OMIM:540000	TRNS1	4574	HP:0002167	Neurological speech impairment
OMIM:540000	TRNS1	4574	HP:0003202	Skeletal muscle atrophy
OMIM:540000	TRNS1	4574	HP:0008872	Feeding difficulties in infancy
OMIM:540000	TRNS1	4574	HP:0000078	Abnormality of the genital system
OMIM:540000	TRNS1	4574	HP:0001337	Tremor
OMIM:540000	TRNS1	4574	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	TRNS1	4574	HP:0002019	Constipation
OMIM:540000	TRNS1	4574	HP:0000648	Optic atrophy
OMIM:540000	TRNS1	4574	HP:0008207	Primary adrenal insufficiency
OMIM:540000	TRNS1	4574	HP:0000519	Congenital cataract
OMIM:540000	TRNS1	4574	HP:0001635	Congestive heart failure
OMIM:540000	TRNS1	4574	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	TRNS1	4574	HP:0001315	Reduced tendon reflexes
OMIM:540000	TRNS1	4574	HP:0002637	Cerebral ischemia
OMIM:540000	TRNS1	4574	HP:0002119	Ventriculomegaly
OMIM:540000	TRNS1	4574	HP:0100704	Cortical visual impairment
OMIM:540000	TRNS1	4574	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	TRNS1	4574	HP:0000829	Hypoparathyroidism
OMIM:540000	TRNS1	4574	HP:0003401	Paresthesia
OMIM:540000	TRNS1	4574	HP:0003457	EMG abnormality
OMIM:540000	TRNS1	4574	HP:0000662	Nyctalopia
OMIM:540000	TRNS1	4574	HP:0001392	Abnormality of the liver
OMIM:540000	TRNS1	4574	HP:0000093	Proteinuria
OMIM:540000	TRNS1	4574	HP:0002514	Cerebral calcification
OMIM:540000	TRNS1	4574	HP:0000726	Dementia
OMIM:540000	TRNS1	4574	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNS1	4574	HP:0002204	Pulmonary embolism
OMIM:540000	TRNS1	4574	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	TRNS1	4574	HP:0000508	Ptosis
OMIM:540000	TRNS1	4574	HP:0000738	Hallucinations
OMIM:540000	TRNS1	4574	HP:0002039	Anorexia
OMIM:540000	TRNS1	4574	HP:0002353	EEG abnormality
OMIM:540000	TRNS1	4574	HP:0000821	Hypothyroidism
OMIM:540000	TRNS1	4574	HP:0001298	Encephalopathy
OMIM:540000	TRNS1	4574	HP:0000836	Hyperthyroidism
OMIM:540000	TRNS1	4574	HP:0100576	Amaurosis fugax
OMIM:540000	TRNS1	4574	HP:0000830	Anterior hypopituitarism
OMIM:540000	TRNS1	4574	HP:0004322	Short stature
OMIM:540000	TRNS1	4574	HP:0005214	Intestinal obstruction
OMIM:540000	TRNS1	4574	HP:0000377	Abnormality of the pinna
OMIM:540000	TRNS1	4574	HP:0000083	Renal insufficiency
OMIM:540000	TRNS1	4574	HP:0004372	Reduced consciousness/confusion
OMIM:540000	TRNS1	4574	HP:0001123	Visual field defect
OMIM:540000	TRNS1	4574	HP:0002269	Abnormality of neuronal migration
OMIM:540000	TRNS1	4574	HP:0001507	Growth abnormality
OMIM:540000	TRNS1	4574	HP:0100646	Thyroiditis
OMIM:540000	TRNS1	4574	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	TRNS1	4574	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	TRNS1	4574	HP:0000316	Hypertelorism
OMIM:540000	TRNS1	4574	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNS1	4574	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	TRNS1	4574	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	TRNS1	4574	HP:0000670	Carious teeth
OMIM:540000	TRNS1	4574	HP:0002024	Malabsorption
OMIM:540000	TRNS1	4574	HP:0000100	Nephrotic syndrome
OMIM:540000	TRNS1	4574	HP:0000505	Visual impairment
OMIM:540000	TRNS1	4574	HP:0001252	Muscular hypotonia
OMIM:540000	TRNS1	4574	HP:0002376	Developmental regression
OMIM:540000	TRNS1	4574	HP:0001645	Sudden cardiac death
OMIM:540000	TRNS1	4574	HP:0005978	Type II diabetes mellitus
OMIM:540000	TRNS1	4574	HP:0000717	Autism
OMIM:540000	TRNS1	4574	HP:0000597	Ophthalmoparesis
OMIM:540000	TRNS1	4574	HP:0000091	Abnormality of the renal tubule
OMIM:540000	TRNS1	4574	HP:0000212	Gingival overgrowth
OMIM:540000	TRNS1	4574	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNS1	4574	HP:0002093	Respiratory insufficiency
OMIM:540000	TRNS1	4574	HP:0000518	Cataract
OMIM:540000	TRNS1	4574	HP:0000298	Mask-like facies
OMIM:540000	TRNS1	4574	HP:0002120	Cerebral cortical atrophy
OMIM:540000	TRNS1	4574	HP:0000252	Microcephaly
OMIM:540000	TRNS1	4574	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNS1	4574	HP:0001733	Pancreatitis
OMIM:540000	TRNS1	4574	HP:0001053	Hypopigmented skin patches
OMIM:540000	TRNS1	4574	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	TRNS1	4574	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNS1	4574	HP:0002750	Delayed skeletal maturation
OMIM:540000	TRNS1	4574	HP:0000407	Sensorineural hearing impairment
OMIM:540000	TRNS1	4574	HP:0002017	Nausea and vomiting
OMIM:540000	TRNS1	4574	HP:0000998	Hypertrichosis
OMIM:540000	TRNS1	4574	HP:0003326	Myalgia
OMIM:540000	TRNS1	4574	HP:0004305	Involuntary movements
OMIM:540000	TRNS2	4575	HP:0000822	Hypertension
OMIM:540000	TRNS2	4575	HP:0003198	Myopathy
OMIM:540000	TRNS2	4575	HP:0000819	Diabetes mellitus
OMIM:540000	TRNS2	4575	HP:0002076	Migraine
OMIM:540000	TRNS2	4575	HP:0002104	Apnea
OMIM:540000	TRNS2	4575	HP:0002354	Memory impairment
OMIM:540000	TRNS2	4575	HP:0001724	Aortic dilatation
OMIM:540000	TRNS2	4575	HP:0003128	Lactic acidosis
OMIM:540000	TRNS2	4575	HP:0004370	Abnormality of temperature regulation
OMIM:540000	TRNS2	4575	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:540000	TRNS2	4575	HP:0008064	Ichthyosis
OMIM:540000	TRNS2	4575	HP:0002311	Incoordination
OMIM:540000	TRNS2	4575	HP:0002150	Hypercalciuria
OMIM:540000	TRNS2	4575	HP:0001324	Muscle weakness
OMIM:540000	TRNS2	4575	HP:0002027	Abdominal pain
OMIM:540000	TRNS2	4575	HP:0004325	Decreased body weight
OMIM:540000	TRNS2	4575	HP:0000853	Goiter
OMIM:540000	TRNS2	4575	HP:0001103	Abnormality of the macula
OMIM:540000	TRNS2	4575	HP:0002167	Neurological speech impairment
OMIM:540000	TRNS2	4575	HP:0003202	Skeletal muscle atrophy
OMIM:540000	TRNS2	4575	HP:0008872	Feeding difficulties in infancy
OMIM:540000	TRNS2	4575	HP:0000078	Abnormality of the genital system
OMIM:540000	TRNS2	4575	HP:0001337	Tremor
OMIM:540000	TRNS2	4575	HP:0001639	Hypertrophic cardiomyopathy
OMIM:540000	TRNS2	4575	HP:0002019	Constipation
OMIM:540000	TRNS2	4575	HP:0000648	Optic atrophy
OMIM:540000	TRNS2	4575	HP:0008207	Primary adrenal insufficiency
OMIM:540000	TRNS2	4575	HP:0000519	Congenital cataract
OMIM:540000	TRNS2	4575	HP:0001635	Congestive heart failure
OMIM:540000	TRNS2	4575	HP:0002804	Arthrogryposis multiplex congenita
OMIM:540000	TRNS2	4575	HP:0001315	Reduced tendon reflexes
OMIM:540000	TRNS2	4575	HP:0002637	Cerebral ischemia
OMIM:540000	TRNS2	4575	HP:0002119	Ventriculomegaly
OMIM:540000	TRNS2	4575	HP:0100704	Cortical visual impairment
OMIM:540000	TRNS2	4575	HP:0000649	Abnormality of visual evoked potentials
OMIM:540000	TRNS2	4575	HP:0000829	Hypoparathyroidism
OMIM:540000	TRNS2	4575	HP:0003401	Paresthesia
OMIM:540000	TRNS2	4575	HP:0003457	EMG abnormality
OMIM:540000	TRNS2	4575	HP:0000662	Nyctalopia
OMIM:540000	TRNS2	4575	HP:0001392	Abnormality of the liver
OMIM:540000	TRNS2	4575	HP:0000093	Proteinuria
OMIM:540000	TRNS2	4575	HP:0002514	Cerebral calcification
OMIM:540000	TRNS2	4575	HP:0000726	Dementia
OMIM:540000	TRNS2	4575	HP:0001712	Left ventricular hypertrophy
OMIM:540000	TRNS2	4575	HP:0002204	Pulmonary embolism
OMIM:540000	TRNS2	4575	HP:0007703	Abnormality of retinal pigmentation
OMIM:540000	TRNS2	4575	HP:0000508	Ptosis
OMIM:540000	TRNS2	4575	HP:0000738	Hallucinations
OMIM:540000	TRNS2	4575	HP:0002039	Anorexia
OMIM:540000	TRNS2	4575	HP:0002353	EEG abnormality
OMIM:540000	TRNS2	4575	HP:0000821	Hypothyroidism
OMIM:540000	TRNS2	4575	HP:0001298	Encephalopathy
OMIM:540000	TRNS2	4575	HP:0000836	Hyperthyroidism
OMIM:540000	TRNS2	4575	HP:0100576	Amaurosis fugax
OMIM:540000	TRNS2	4575	HP:0000830	Anterior hypopituitarism
OMIM:540000	TRNS2	4575	HP:0004322	Short stature
OMIM:540000	TRNS2	4575	HP:0005214	Intestinal obstruction
OMIM:540000	TRNS2	4575	HP:0000377	Abnormality of the pinna
OMIM:540000	TRNS2	4575	HP:0000083	Renal insufficiency
OMIM:540000	TRNS2	4575	HP:0004372	Reduced consciousness/confusion
OMIM:540000	TRNS2	4575	HP:0001123	Visual field defect
OMIM:540000	TRNS2	4575	HP:0002269	Abnormality of neuronal migration
OMIM:540000	TRNS2	4575	HP:0001507	Growth abnormality
OMIM:540000	TRNS2	4575	HP:0100646	Thyroiditis
OMIM:540000	TRNS2	4575	HP:0007018	Attention deficit hyperactivity disorder
OMIM:540000	TRNS2	4575	HP:0000762	Decreased nerve conduction velocity
OMIM:540000	TRNS2	4575	HP:0000316	Hypertelorism
OMIM:540000	TRNS2	4575	HP:0001427	Mitochondrial inheritance
OMIM:540000	TRNS2	4575	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:540000	TRNS2	4575	HP:0004374	Hemiplegia/hemiparesis
OMIM:540000	TRNS2	4575	HP:0000670	Carious teeth
OMIM:540000	TRNS2	4575	HP:0002024	Malabsorption
OMIM:540000	TRNS2	4575	HP:0000100	Nephrotic syndrome
OMIM:540000	TRNS2	4575	HP:0000505	Visual impairment
OMIM:540000	TRNS2	4575	HP:0001252	Muscular hypotonia
OMIM:540000	TRNS2	4575	HP:0002376	Developmental regression
OMIM:540000	TRNS2	4575	HP:0001645	Sudden cardiac death
OMIM:540000	TRNS2	4575	HP:0005978	Type II diabetes mellitus
OMIM:540000	TRNS2	4575	HP:0000717	Autism
OMIM:540000	TRNS2	4575	HP:0000597	Ophthalmoparesis
OMIM:540000	TRNS2	4575	HP:0000091	Abnormality of the renal tubule
OMIM:540000	TRNS2	4575	HP:0000212	Gingival overgrowth
OMIM:540000	TRNS2	4575	HP:0000408	Progressive sensorineural hearing impairment
OMIM:540000	TRNS2	4575	HP:0002093	Respiratory insufficiency
OMIM:540000	TRNS2	4575	HP:0000518	Cataract
OMIM:540000	TRNS2	4575	HP:0000298	Mask-like facies
OMIM:540000	TRNS2	4575	HP:0002120	Cerebral cortical atrophy
OMIM:540000	TRNS2	4575	HP:0000252	Microcephaly
OMIM:540000	TRNS2	4575	HP:0000602	Ophthalmoplegia
OMIM:540000	TRNS2	4575	HP:0001733	Pancreatitis
OMIM:540000	TRNS2	4575	HP:0001053	Hypopigmented skin patches
OMIM:540000	TRNS2	4575	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:540000	TRNS2	4575	HP:0002069	Generalized tonic-clonic seizures
OMIM:540000	TRNS2	4575	HP:0002750	Delayed skeletal maturation
OMIM:540000	TRNS2	4575	HP:0000407	Sensorineural hearing impairment
OMIM:540000	TRNS2	4575	HP:0002017	Nausea and vomiting
OMIM:540000	TRNS2	4575	HP:0000998	Hypertrichosis
OMIM:540000	TRNS2	4575	HP:0003326	Myalgia
OMIM:540000	TRNS2	4575	HP:0004305	Involuntary movements
OMIM:228550	NOTCH3	4854	HP:0003549	Abnormality of connective tissue
OMIM:228550	NOTCH3	4854	HP:0000006	Autosomal dominant inheritance
OMIM:228550	NOTCH3	4854	HP:0010614	Fibroma
OMIM:228550	PDGFRB	5159	HP:0003549	Abnormality of connective tissue
OMIM:228550	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:228550	PDGFRB	5159	HP:0010614	Fibroma
OMIM:613105	GUCY2D	3000	HP:0000613	Photophobia
OMIM:613105	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:613105	GUCY2D	3000	HP:0000533	Chorioretinal atrophy
OMIM:613105	PRPH2	5961	HP:0000613	Photophobia
OMIM:613105	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:613105	PRPH2	5961	HP:0000533	Chorioretinal atrophy
OMIM:262500	GHR	2690	HP:0007495	Prematurely aged appearance
OMIM:262500	GHR	2690	HP:0000457	Depressed nasal ridge
OMIM:262500	GHR	2690	HP:0001831	Short toe
OMIM:262500	GHR	2690	HP:0009811	Abnormality of the elbow
OMIM:262500	GHR	2690	HP:0000592	Blue sclerae
OMIM:262500	GHR	2690	HP:0009804	Reduced number of teeth
OMIM:262500	GHR	2690	HP:0009924	Aplasia/Hypoplasia involving the nose
OMIM:262500	GHR	2690	HP:0000691	Microdontia
OMIM:262500	GHR	2690	HP:0003026	Short long bone
OMIM:262500	GHR	2690	HP:0001156	Brachydactyly syndrome
OMIM:262500	GHR	2690	HP:0001956	Truncal obesity
OMIM:262500	GHR	2690	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:262500	GHR	2690	HP:0002750	Delayed skeletal maturation
OMIM:262500	GHR	2690	HP:0003510	Severe short stature
OMIM:262500	GHR	2690	HP:0002758	Osteoarthritis
OMIM:262500	GHR	2690	HP:0009891	Underdeveloped supraorbital ridges
OMIM:262500	GHR	2690	HP:0001943	Hypoglycemia
OMIM:262500	GHR	2690	HP:0000007	Autosomal recessive inheritance
OMIM:262500	GHR	2690	HP:0001367	Abnormal joint morphology
OMIM:262500	GHR	2690	HP:0100543	Cognitive impairment
OMIM:262500	GHR	2690	HP:0000998	Hypertrichosis
OMIM:262500	GHR	2690	HP:0001608	Abnormality of the voice
OMIM:262500	GHR	2690	HP:0003202	Skeletal muscle atrophy
OMIM:262500	GHR	2690	HP:0000347	Micrognathia
OMIM:262500	GHR	2690	HP:0001999	Abnormal facial shape
OMIM:262500	GHR	2690	HP:0000684	Delayed eruption of teeth
OMIM:262500	GHR	2690	HP:0008736	Hypoplasia of penis
OMIM:262500	GHR	2690	HP:0003119	Abnormality of lipid metabolism
OMIM:262500	GHR	2690	HP:0000966	Hypohidrosis
OMIM:262500	GHR	2690	HP:0001620	High pitched voice
OMIM:262500	GHR	2690	HP:0000274	Small face
OMIM:262500	GHR	2690	HP:0000348	High forehead
OMIM:610992	PSAT1	29968	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610992	PSAT1	29968	HP:0008872	Feeding difficulties in infancy
OMIM:610992	PSAT1	29968	HP:0001250	Seizures
OMIM:610992	PSAT1	29968	HP:0001276	Hypertonia
OMIM:610992	PSAT1	29968	HP:0003593	Infantile onset
OMIM:610992	PSAT1	29968	HP:0000007	Autosomal recessive inheritance
OMIM:610992	PSAT1	29968	HP:0001263	Global developmental delay
OMIM:610992	PSAT1	29968	HP:0005484	Postnatal microcephaly
OMIM:612657	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:612657	AIPL1	23746	HP:0000006	Autosomal dominant inheritance
OMIM:612657	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	PITPNM3	83394	HP:0007663	Reduced visual acuity
OMIM:612657	PITPNM3	83394	HP:0000006	Autosomal dominant inheritance
OMIM:612657	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:612657	OPN1LW	5956	HP:0000006	Autosomal dominant inheritance
OMIM:612657	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	UNC119	9094	HP:0007663	Reduced visual acuity
OMIM:612657	UNC119	9094	HP:0000006	Autosomal dominant inheritance
OMIM:612657	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:612657	RPGRIP1	57096	HP:0000006	Autosomal dominant inheritance
OMIM:612657	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:612657	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:612657	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:612657	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:612657	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:612657	CACNA1F	778	HP:0000006	Autosomal dominant inheritance
OMIM:612657	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	DRAM2	128338	HP:0007663	Reduced visual acuity
OMIM:612657	DRAM2	128338	HP:0000006	Autosomal dominant inheritance
OMIM:612657	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:612657	CACNA2D4	93589	HP:0000006	Autosomal dominant inheritance
OMIM:612657	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	RAB28	9364	HP:0007663	Reduced visual acuity
OMIM:612657	RAB28	9364	HP:0000006	Autosomal dominant inheritance
OMIM:612657	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	RIMS1	22999	HP:0007663	Reduced visual acuity
OMIM:612657	RIMS1	22999	HP:0000006	Autosomal dominant inheritance
OMIM:612657	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:612657	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:612657	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:612657	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:612657	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:612657	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:612657	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:612657	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:612657	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:612657	OPN1MW	2652	HP:0000006	Autosomal dominant inheritance
OMIM:612657	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:612657	GUCA1A	2978	HP:0000006	Autosomal dominant inheritance
OMIM:612657	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	RAX2	84839	HP:0007663	Reduced visual acuity
OMIM:612657	RAX2	84839	HP:0000006	Autosomal dominant inheritance
OMIM:612657	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:612657	CNGA3	1261	HP:0000006	Autosomal dominant inheritance
OMIM:612657	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	ADAM9	8754	HP:0007663	Reduced visual acuity
OMIM:612657	ADAM9	8754	HP:0000006	Autosomal dominant inheritance
OMIM:612657	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:612657	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:612657	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	TTLL5	23093	HP:0007663	Reduced visual acuity
OMIM:612657	TTLL5	23093	HP:0000006	Autosomal dominant inheritance
OMIM:612657	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:612657	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:612657	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	POC1B	282809	HP:0007663	Reduced visual acuity
OMIM:612657	POC1B	282809	HP:0000006	Autosomal dominant inheritance
OMIM:612657	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:612657	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:612657	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:614890	IL12B	3593	HP:0002721	Immunodeficiency
OMIM:607487	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:607487	TCAP	8557	HP:0001712	Left ventricular hypertrophy
OMIM:607487	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:609924	ACY1	95	HP:0003812	Phenotypic variability
OMIM:609924	ACY1	95	HP:0002059	Cerebral atrophy
OMIM:609924	ACY1	95	HP:0002188	Delayed CNS myelination
OMIM:609924	ACY1	95	HP:0000316	Hypertelorism
OMIM:609924	ACY1	95	HP:0006846	Acute encephalopathy
OMIM:609924	ACY1	95	HP:0000007	Autosomal recessive inheritance
OMIM:609924	ACY1	95	HP:0001263	Global developmental delay
OMIM:609924	ACY1	95	HP:0000752	Hyperactivity
OMIM:609924	ACY1	95	HP:0001272	Cerebellar atrophy
OMIM:609924	ACY1	95	HP:0000431	Wide nasal bridge
OMIM:609924	ACY1	95	HP:0001252	Muscular hypotonia
OMIM:609924	ACY1	95	HP:0001250	Seizures
OMIM:609924	ACY1	95	HP:0001324	Muscle weakness
OMIM:609924	ACY1	95	HP:0000407	Sensorineural hearing impairment
OMIM:225100	FBN1	2200	HP:0000007	Autosomal recessive inheritance
OMIM:225100	FBN1	2200	HP:0001083	Ectopia lentis
OMIM:225100	ADAMTSL4	54507	HP:0000007	Autosomal recessive inheritance
OMIM:225100	ADAMTSL4	54507	HP:0001083	Ectopia lentis
OMIM:203450	GFAP	2670	HP:0002093	Respiratory insufficiency
OMIM:203450	GFAP	2670	HP:0003307	Hyperlordosis
OMIM:203450	GFAP	2670	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:203450	GFAP	2670	HP:0002200	Pseudobulbar signs
OMIM:203450	GFAP	2670	HP:0002353	EEG abnormality
OMIM:203450	GFAP	2670	HP:0002808	Kyphosis
OMIM:203450	GFAP	2670	HP:0002167	Neurological speech impairment
OMIM:203450	GFAP	2670	HP:0000238	Hydrocephalus
OMIM:203450	GFAP	2670	HP:0002311	Incoordination
OMIM:203450	GFAP	2670	HP:0000822	Hypertension
OMIM:203450	GFAP	2670	HP:0002072	Chorea
OMIM:203450	GFAP	2670	HP:0000819	Diabetes mellitus
OMIM:203450	GFAP	2670	HP:0001250	Seizures
OMIM:203450	GFAP	2670	HP:0008872	Feeding difficulties in infancy
OMIM:203450	GFAP	2670	HP:0001252	Muscular hypotonia
OMIM:203450	GFAP	2670	HP:0000174	Abnormality of the palate
OMIM:203450	GFAP	2670	HP:0002607	Bowel incontinence
OMIM:203450	GFAP	2670	HP:0100716	Self-injurious behavior
OMIM:203450	GFAP	2670	HP:0001337	Tremor
OMIM:203450	GFAP	2670	HP:0002922	Increased CSF protein
OMIM:203450	GFAP	2670	HP:0010628	Facial palsy
OMIM:203450	GFAP	2670	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:203450	GFAP	2670	HP:0002017	Nausea and vomiting
OMIM:203450	GFAP	2670	HP:0004481	Progressive macrocephaly
OMIM:203450	GFAP	2670	HP:0004349	Reduced bone mineral density
OMIM:203450	GFAP	2670	HP:0001251	Ataxia
OMIM:203450	GFAP	2670	HP:0002104	Apnea
OMIM:203450	GFAP	2670	HP:0001276	Hypertonia
OMIM:203450	GFAP	2670	HP:0002650	Scoliosis
OMIM:203450	GFAP	2670	HP:0002514	Cerebral calcification
OMIM:203450	GFAP	2670	HP:0000508	Ptosis
OMIM:203450	GFAP	2670	HP:0100729	Large face
OMIM:203450	GFAP	2670	HP:0000006	Autosomal dominant inheritance
OMIM:203450	GFAP	2670	HP:0000639	Nystagmus
OMIM:203450	GFAP	2670	HP:0001347	Hyperreflexia
OMIM:203450	GFAP	2670	HP:0002007	Frontal bossing
OMIM:203450	GFAP	2670	HP:0003593	Infantile onset
OMIM:203450	GFAP	2670	HP:0007256	Abnormal pyramidal signs
OMIM:203450	GFAP	2670	HP:0002270	Abnormality of the autonomic nervous system
OMIM:203450	GFAP	2670	HP:0000995	Melanocytic nevus
OMIM:203450	GFAP	2670	HP:0000821	Hypothyroidism
OMIM:203450	GFAP	2670	HP:0000975	Hyperhidrosis
OMIM:203450	GFAP	2670	HP:0001257	Spasticity
OMIM:203450	GFAP	2670	HP:0000470	Short neck
OMIM:203450	GFAP	2670	HP:0100543	Cognitive impairment
OMIM:203450	GFAP	2670	HP:0002360	Sleep disturbance
OMIM:203450	GFAP	2670	HP:0000826	Precocious puberty
OMIM:203450	GFAP	2670	HP:0002483	Bulbar signs
OMIM:203450	GFAP	2670	HP:0012211	Abnormal renal physiology
OMIM:203450	GFAP	2670	HP:0002376	Developmental regression
OMIM:203450	GFAP	2670	HP:0004374	Hemiplegia/hemiparesis
OMIM:203450	GFAP	2670	HP:0001288	Gait disturbance
OMIM:203450	GFAP	2670	HP:0002019	Constipation
OMIM:203450	GFAP	2670	HP:0001645	Sudden cardiac death
OMIM:203450	GFAP	2670	HP:0002383	Encephalitis
OMIM:610204	TSEN54	283989	HP:0001250	Seizures
OMIM:610204	TSEN54	283989	HP:0000252	Microcephaly
OMIM:610204	TSEN54	283989	HP:0000007	Autosomal recessive inheritance
OMIM:608354	RASA1	5921	HP:0100026	Arteriovenous malformation
OMIM:608354	RASA1	5921	HP:0000006	Autosomal dominant inheritance
ORPHANET:84	FANCC	2176	HP:0000083	Renal insufficiency
ORPHANET:84	FANCC	2176	HP:0000957	Cafe-au-lait spot
ORPHANET:84	FANCC	2176	HP:0001199	Triphalangeal thumb
ORPHANET:84	FANCC	2176	HP:0001562	Oligohydramnios
ORPHANET:84	FANCC	2176	HP:0000508	Ptosis
ORPHANET:84	FANCC	2176	HP:0000175	Cleft palate
ORPHANET:84	FANCC	2176	HP:0002863	Myelodysplasia
ORPHANET:84	FANCC	2176	HP:0001763	Pes planus
ORPHANET:84	FANCC	2176	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	FANCC	2176	HP:0001903	Anemia
ORPHANET:84	FANCC	2176	HP:0100026	Arteriovenous malformation
ORPHANET:84	FANCC	2176	HP:0000238	Hydrocephalus
ORPHANET:84	FANCC	2176	HP:0001392	Abnormality of the liver
ORPHANET:84	FANCC	2176	HP:0000520	Proptosis
ORPHANET:84	FANCC	2176	HP:0000486	Strabismus
ORPHANET:84	FANCC	2176	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	FANCC	2176	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	FANCC	2176	HP:0100589	Urogenital fistula
ORPHANET:84	FANCC	2176	HP:0000268	Dolichocephaly
ORPHANET:84	FANCC	2176	HP:0000639	Nystagmus
ORPHANET:84	FANCC	2176	HP:0100760	Clubbing of toes
ORPHANET:84	FANCC	2176	HP:0100542	Abnormal localization of kidney
ORPHANET:84	FANCC	2176	HP:0000286	Epicanthus
ORPHANET:84	FANCC	2176	HP:0002119	Ventriculomegaly
ORPHANET:84	FANCC	2176	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	FANCC	2176	HP:0001770	Toe syndactyly
ORPHANET:84	FANCC	2176	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	FANCC	2176	HP:0004322	Short stature
ORPHANET:84	FANCC	2176	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	FANCC	2176	HP:0004349	Reduced bone mineral density
ORPHANET:84	FANCC	2176	HP:0001053	Hypopigmented skin patches
ORPHANET:84	FANCC	2176	HP:0001511	Intrauterine growth retardation
ORPHANET:84	FANCC	2176	HP:0002650	Scoliosis
ORPHANET:84	FANCC	2176	HP:0002414	Spina bifida
ORPHANET:84	FANCC	2176	HP:0001679	Abnormality of the aorta
ORPHANET:84	FANCC	2176	HP:0001873	Thrombocytopenia
ORPHANET:84	FANCC	2176	HP:0001537	Umbilical hernia
ORPHANET:84	FANCC	2176	HP:0002251	Aganglionic megacolon
ORPHANET:84	FANCC	2176	HP:0003272	Abnormality of the hip bone
ORPHANET:84	FANCC	2176	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	FANCC	2176	HP:0000316	Hypertelorism
ORPHANET:84	FANCC	2176	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	FANCC	2176	HP:0002823	Abnormality of the femur
ORPHANET:84	FANCC	2176	HP:0000347	Micrognathia
ORPHANET:84	FANCC	2176	HP:0000324	Facial asymmetry
ORPHANET:84	FANCC	2176	HP:0000518	Cataract
ORPHANET:84	FANCC	2176	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	FANCC	2176	HP:0001643	Patent ductus arteriosus
ORPHANET:84	FANCC	2176	HP:0000505	Visual impairment
ORPHANET:84	FANCC	2176	HP:0006824	Cranial nerve paralysis
ORPHANET:84	FANCC	2176	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	FANCC	2176	HP:0000028	Cryptorchidism
ORPHANET:84	FANCC	2176	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	FANCC	2176	HP:0002997	Abnormality of the ulna
ORPHANET:84	FANCC	2176	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	FANCC	2176	HP:0100867	Duodenal stenosis
ORPHANET:84	FANCC	2176	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	FANCC	2176	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	FANCC	2176	HP:0000483	Astigmatism
ORPHANET:84	FANCC	2176	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	FANCC	2176	HP:0000340	Sloping forehead
ORPHANET:84	FANCC	2176	HP:0000365	Hearing impairment
ORPHANET:84	FANCC	2176	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	FANCC	2176	HP:0001636	Tetralogy of Fallot
ORPHANET:84	FANCC	2176	HP:0001347	Hyperreflexia
ORPHANET:84	FANCC	2176	HP:0000581	Blepharophimosis
ORPHANET:84	FANCC	2176	HP:0006101	Finger syndactyly
ORPHANET:84	FANCC	2176	HP:0001824	Weight loss
ORPHANET:84	FANCC	2176	HP:0000252	Microcephaly
ORPHANET:84	FANCC	2176	HP:0000453	Choanal atresia
ORPHANET:84	FANCC	2176	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	FANCC	2176	HP:0100543	Cognitive impairment
ORPHANET:84	FANCC	2176	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	FANCC	2176	HP:0001882	Leukopenia
ORPHANET:84	FANCC	2176	HP:0008572	External ear malformation
ORPHANET:84	FANCC	2176	HP:0002245	Meckel diverticulum
ORPHANET:84	FANCC	2176	HP:0100587	Abnormality of the preputium
ORPHANET:84	FANCC	2176	HP:0001631	Atria septal defect
ORPHANET:84	FANCC	2176	HP:0002007	Frontal bossing
ORPHANET:84	FANCD2	2177	HP:0000083	Renal insufficiency
ORPHANET:84	FANCD2	2177	HP:0000957	Cafe-au-lait spot
ORPHANET:84	FANCD2	2177	HP:0001199	Triphalangeal thumb
ORPHANET:84	FANCD2	2177	HP:0001562	Oligohydramnios
ORPHANET:84	FANCD2	2177	HP:0000508	Ptosis
ORPHANET:84	FANCD2	2177	HP:0000175	Cleft palate
ORPHANET:84	FANCD2	2177	HP:0002863	Myelodysplasia
ORPHANET:84	FANCD2	2177	HP:0001763	Pes planus
ORPHANET:84	FANCD2	2177	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	FANCD2	2177	HP:0001903	Anemia
ORPHANET:84	FANCD2	2177	HP:0100026	Arteriovenous malformation
ORPHANET:84	FANCD2	2177	HP:0000238	Hydrocephalus
ORPHANET:84	FANCD2	2177	HP:0001392	Abnormality of the liver
ORPHANET:84	FANCD2	2177	HP:0000520	Proptosis
ORPHANET:84	FANCD2	2177	HP:0000486	Strabismus
ORPHANET:84	FANCD2	2177	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	FANCD2	2177	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	FANCD2	2177	HP:0100589	Urogenital fistula
ORPHANET:84	FANCD2	2177	HP:0000268	Dolichocephaly
ORPHANET:84	FANCD2	2177	HP:0000639	Nystagmus
ORPHANET:84	FANCD2	2177	HP:0100760	Clubbing of toes
ORPHANET:84	FANCD2	2177	HP:0100542	Abnormal localization of kidney
ORPHANET:84	FANCD2	2177	HP:0000286	Epicanthus
ORPHANET:84	FANCD2	2177	HP:0002119	Ventriculomegaly
ORPHANET:84	FANCD2	2177	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	FANCD2	2177	HP:0001770	Toe syndactyly
ORPHANET:84	FANCD2	2177	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	FANCD2	2177	HP:0004322	Short stature
ORPHANET:84	FANCD2	2177	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	FANCD2	2177	HP:0004349	Reduced bone mineral density
ORPHANET:84	FANCD2	2177	HP:0001053	Hypopigmented skin patches
ORPHANET:84	FANCD2	2177	HP:0001511	Intrauterine growth retardation
ORPHANET:84	FANCD2	2177	HP:0002650	Scoliosis
ORPHANET:84	FANCD2	2177	HP:0002414	Spina bifida
ORPHANET:84	FANCD2	2177	HP:0001679	Abnormality of the aorta
ORPHANET:84	FANCD2	2177	HP:0001873	Thrombocytopenia
ORPHANET:84	FANCD2	2177	HP:0001537	Umbilical hernia
ORPHANET:84	FANCD2	2177	HP:0002251	Aganglionic megacolon
ORPHANET:84	FANCD2	2177	HP:0003272	Abnormality of the hip bone
ORPHANET:84	FANCD2	2177	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	FANCD2	2177	HP:0000316	Hypertelorism
ORPHANET:84	FANCD2	2177	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	FANCD2	2177	HP:0002823	Abnormality of the femur
ORPHANET:84	FANCD2	2177	HP:0000347	Micrognathia
ORPHANET:84	FANCD2	2177	HP:0000324	Facial asymmetry
ORPHANET:84	FANCD2	2177	HP:0000518	Cataract
ORPHANET:84	FANCD2	2177	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	FANCD2	2177	HP:0001643	Patent ductus arteriosus
ORPHANET:84	FANCD2	2177	HP:0000505	Visual impairment
ORPHANET:84	FANCD2	2177	HP:0006824	Cranial nerve paralysis
ORPHANET:84	FANCD2	2177	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	FANCD2	2177	HP:0000028	Cryptorchidism
ORPHANET:84	FANCD2	2177	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	FANCD2	2177	HP:0002997	Abnormality of the ulna
ORPHANET:84	FANCD2	2177	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	FANCD2	2177	HP:0100867	Duodenal stenosis
ORPHANET:84	FANCD2	2177	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	FANCD2	2177	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	FANCD2	2177	HP:0000483	Astigmatism
ORPHANET:84	FANCD2	2177	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	FANCD2	2177	HP:0000340	Sloping forehead
ORPHANET:84	FANCD2	2177	HP:0000365	Hearing impairment
ORPHANET:84	FANCD2	2177	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	FANCD2	2177	HP:0001636	Tetralogy of Fallot
ORPHANET:84	FANCD2	2177	HP:0001347	Hyperreflexia
ORPHANET:84	FANCD2	2177	HP:0000581	Blepharophimosis
ORPHANET:84	FANCD2	2177	HP:0006101	Finger syndactyly
ORPHANET:84	FANCD2	2177	HP:0001824	Weight loss
ORPHANET:84	FANCD2	2177	HP:0000252	Microcephaly
ORPHANET:84	FANCD2	2177	HP:0000453	Choanal atresia
ORPHANET:84	FANCD2	2177	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	FANCD2	2177	HP:0100543	Cognitive impairment
ORPHANET:84	FANCD2	2177	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	FANCD2	2177	HP:0001882	Leukopenia
ORPHANET:84	FANCD2	2177	HP:0008572	External ear malformation
ORPHANET:84	FANCD2	2177	HP:0002245	Meckel diverticulum
ORPHANET:84	FANCD2	2177	HP:0100587	Abnormality of the preputium
ORPHANET:84	FANCD2	2177	HP:0001631	Atria septal defect
ORPHANET:84	FANCD2	2177	HP:0002007	Frontal bossing
ORPHANET:84	FANCM	57697	HP:0000083	Renal insufficiency
ORPHANET:84	FANCM	57697	HP:0000957	Cafe-au-lait spot
ORPHANET:84	FANCM	57697	HP:0001199	Triphalangeal thumb
ORPHANET:84	FANCM	57697	HP:0001562	Oligohydramnios
ORPHANET:84	FANCM	57697	HP:0000508	Ptosis
ORPHANET:84	FANCM	57697	HP:0000175	Cleft palate
ORPHANET:84	FANCM	57697	HP:0002863	Myelodysplasia
ORPHANET:84	FANCM	57697	HP:0001763	Pes planus
ORPHANET:84	FANCM	57697	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	FANCM	57697	HP:0001903	Anemia
ORPHANET:84	FANCM	57697	HP:0100026	Arteriovenous malformation
ORPHANET:84	FANCM	57697	HP:0000238	Hydrocephalus
ORPHANET:84	FANCM	57697	HP:0001392	Abnormality of the liver
ORPHANET:84	FANCM	57697	HP:0000520	Proptosis
ORPHANET:84	FANCM	57697	HP:0000486	Strabismus
ORPHANET:84	FANCM	57697	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	FANCM	57697	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	FANCM	57697	HP:0100589	Urogenital fistula
ORPHANET:84	FANCM	57697	HP:0000268	Dolichocephaly
ORPHANET:84	FANCM	57697	HP:0000639	Nystagmus
ORPHANET:84	FANCM	57697	HP:0100760	Clubbing of toes
ORPHANET:84	FANCM	57697	HP:0100542	Abnormal localization of kidney
ORPHANET:84	FANCM	57697	HP:0000286	Epicanthus
ORPHANET:84	FANCM	57697	HP:0002119	Ventriculomegaly
ORPHANET:84	FANCM	57697	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	FANCM	57697	HP:0001770	Toe syndactyly
ORPHANET:84	FANCM	57697	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	FANCM	57697	HP:0004322	Short stature
ORPHANET:84	FANCM	57697	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	FANCM	57697	HP:0004349	Reduced bone mineral density
ORPHANET:84	FANCM	57697	HP:0001053	Hypopigmented skin patches
ORPHANET:84	FANCM	57697	HP:0001511	Intrauterine growth retardation
ORPHANET:84	FANCM	57697	HP:0002650	Scoliosis
ORPHANET:84	FANCM	57697	HP:0002414	Spina bifida
ORPHANET:84	FANCM	57697	HP:0001679	Abnormality of the aorta
ORPHANET:84	FANCM	57697	HP:0001873	Thrombocytopenia
ORPHANET:84	FANCM	57697	HP:0001537	Umbilical hernia
ORPHANET:84	FANCM	57697	HP:0002251	Aganglionic megacolon
ORPHANET:84	FANCM	57697	HP:0003272	Abnormality of the hip bone
ORPHANET:84	FANCM	57697	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	FANCM	57697	HP:0000316	Hypertelorism
ORPHANET:84	FANCM	57697	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	FANCM	57697	HP:0002823	Abnormality of the femur
ORPHANET:84	FANCM	57697	HP:0000347	Micrognathia
ORPHANET:84	FANCM	57697	HP:0000324	Facial asymmetry
ORPHANET:84	FANCM	57697	HP:0000518	Cataract
ORPHANET:84	FANCM	57697	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	FANCM	57697	HP:0001643	Patent ductus arteriosus
ORPHANET:84	FANCM	57697	HP:0000505	Visual impairment
ORPHANET:84	FANCM	57697	HP:0006824	Cranial nerve paralysis
ORPHANET:84	FANCM	57697	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	FANCM	57697	HP:0000028	Cryptorchidism
ORPHANET:84	FANCM	57697	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	FANCM	57697	HP:0002997	Abnormality of the ulna
ORPHANET:84	FANCM	57697	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	FANCM	57697	HP:0100867	Duodenal stenosis
ORPHANET:84	FANCM	57697	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	FANCM	57697	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	FANCM	57697	HP:0000483	Astigmatism
ORPHANET:84	FANCM	57697	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	FANCM	57697	HP:0000340	Sloping forehead
ORPHANET:84	FANCM	57697	HP:0000365	Hearing impairment
ORPHANET:84	FANCM	57697	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	FANCM	57697	HP:0001636	Tetralogy of Fallot
ORPHANET:84	FANCM	57697	HP:0001347	Hyperreflexia
ORPHANET:84	FANCM	57697	HP:0000581	Blepharophimosis
ORPHANET:84	FANCM	57697	HP:0006101	Finger syndactyly
ORPHANET:84	FANCM	57697	HP:0001824	Weight loss
ORPHANET:84	FANCM	57697	HP:0000252	Microcephaly
ORPHANET:84	FANCM	57697	HP:0000453	Choanal atresia
ORPHANET:84	FANCM	57697	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	FANCM	57697	HP:0100543	Cognitive impairment
ORPHANET:84	FANCM	57697	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	FANCM	57697	HP:0001882	Leukopenia
ORPHANET:84	FANCM	57697	HP:0008572	External ear malformation
ORPHANET:84	FANCM	57697	HP:0002245	Meckel diverticulum
ORPHANET:84	FANCM	57697	HP:0100587	Abnormality of the preputium
ORPHANET:84	FANCM	57697	HP:0001631	Atria septal defect
ORPHANET:84	FANCM	57697	HP:0002007	Frontal bossing
ORPHANET:84	RAD51C	5889	HP:0000083	Renal insufficiency
ORPHANET:84	RAD51C	5889	HP:0000957	Cafe-au-lait spot
ORPHANET:84	RAD51C	5889	HP:0001199	Triphalangeal thumb
ORPHANET:84	RAD51C	5889	HP:0001562	Oligohydramnios
ORPHANET:84	RAD51C	5889	HP:0000508	Ptosis
ORPHANET:84	RAD51C	5889	HP:0000175	Cleft palate
ORPHANET:84	RAD51C	5889	HP:0002863	Myelodysplasia
ORPHANET:84	RAD51C	5889	HP:0001763	Pes planus
ORPHANET:84	RAD51C	5889	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	RAD51C	5889	HP:0001903	Anemia
ORPHANET:84	RAD51C	5889	HP:0100026	Arteriovenous malformation
ORPHANET:84	RAD51C	5889	HP:0000238	Hydrocephalus
ORPHANET:84	RAD51C	5889	HP:0001392	Abnormality of the liver
ORPHANET:84	RAD51C	5889	HP:0000520	Proptosis
ORPHANET:84	RAD51C	5889	HP:0000486	Strabismus
ORPHANET:84	RAD51C	5889	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	RAD51C	5889	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	RAD51C	5889	HP:0100589	Urogenital fistula
ORPHANET:84	RAD51C	5889	HP:0000268	Dolichocephaly
ORPHANET:84	RAD51C	5889	HP:0000639	Nystagmus
ORPHANET:84	RAD51C	5889	HP:0100760	Clubbing of toes
ORPHANET:84	RAD51C	5889	HP:0100542	Abnormal localization of kidney
ORPHANET:84	RAD51C	5889	HP:0000286	Epicanthus
ORPHANET:84	RAD51C	5889	HP:0002119	Ventriculomegaly
ORPHANET:84	RAD51C	5889	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	RAD51C	5889	HP:0001770	Toe syndactyly
ORPHANET:84	RAD51C	5889	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	RAD51C	5889	HP:0004322	Short stature
ORPHANET:84	RAD51C	5889	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	RAD51C	5889	HP:0004349	Reduced bone mineral density
ORPHANET:84	RAD51C	5889	HP:0001053	Hypopigmented skin patches
ORPHANET:84	RAD51C	5889	HP:0001511	Intrauterine growth retardation
ORPHANET:84	RAD51C	5889	HP:0002650	Scoliosis
ORPHANET:84	RAD51C	5889	HP:0002414	Spina bifida
ORPHANET:84	RAD51C	5889	HP:0001679	Abnormality of the aorta
ORPHANET:84	RAD51C	5889	HP:0001873	Thrombocytopenia
ORPHANET:84	RAD51C	5889	HP:0001537	Umbilical hernia
ORPHANET:84	RAD51C	5889	HP:0002251	Aganglionic megacolon
ORPHANET:84	RAD51C	5889	HP:0003272	Abnormality of the hip bone
ORPHANET:84	RAD51C	5889	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	RAD51C	5889	HP:0000316	Hypertelorism
ORPHANET:84	RAD51C	5889	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	RAD51C	5889	HP:0002823	Abnormality of the femur
ORPHANET:84	RAD51C	5889	HP:0000347	Micrognathia
ORPHANET:84	RAD51C	5889	HP:0000324	Facial asymmetry
ORPHANET:84	RAD51C	5889	HP:0000518	Cataract
ORPHANET:84	RAD51C	5889	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	RAD51C	5889	HP:0001643	Patent ductus arteriosus
ORPHANET:84	RAD51C	5889	HP:0000505	Visual impairment
ORPHANET:84	RAD51C	5889	HP:0006824	Cranial nerve paralysis
ORPHANET:84	RAD51C	5889	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	RAD51C	5889	HP:0000028	Cryptorchidism
ORPHANET:84	RAD51C	5889	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	RAD51C	5889	HP:0002997	Abnormality of the ulna
ORPHANET:84	RAD51C	5889	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	RAD51C	5889	HP:0100867	Duodenal stenosis
ORPHANET:84	RAD51C	5889	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	RAD51C	5889	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	RAD51C	5889	HP:0000483	Astigmatism
ORPHANET:84	RAD51C	5889	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	RAD51C	5889	HP:0000340	Sloping forehead
ORPHANET:84	RAD51C	5889	HP:0000365	Hearing impairment
ORPHANET:84	RAD51C	5889	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	RAD51C	5889	HP:0001636	Tetralogy of Fallot
ORPHANET:84	RAD51C	5889	HP:0001347	Hyperreflexia
ORPHANET:84	RAD51C	5889	HP:0000581	Blepharophimosis
ORPHANET:84	RAD51C	5889	HP:0006101	Finger syndactyly
ORPHANET:84	RAD51C	5889	HP:0001824	Weight loss
ORPHANET:84	RAD51C	5889	HP:0000252	Microcephaly
ORPHANET:84	RAD51C	5889	HP:0000453	Choanal atresia
ORPHANET:84	RAD51C	5889	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	RAD51C	5889	HP:0100543	Cognitive impairment
ORPHANET:84	RAD51C	5889	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	RAD51C	5889	HP:0001882	Leukopenia
ORPHANET:84	RAD51C	5889	HP:0008572	External ear malformation
ORPHANET:84	RAD51C	5889	HP:0002245	Meckel diverticulum
ORPHANET:84	RAD51C	5889	HP:0100587	Abnormality of the preputium
ORPHANET:84	RAD51C	5889	HP:0001631	Atria septal defect
ORPHANET:84	RAD51C	5889	HP:0002007	Frontal bossing
ORPHANET:84	UBE2T	29089	HP:0000083	Renal insufficiency
ORPHANET:84	UBE2T	29089	HP:0000957	Cafe-au-lait spot
ORPHANET:84	UBE2T	29089	HP:0001199	Triphalangeal thumb
ORPHANET:84	UBE2T	29089	HP:0001562	Oligohydramnios
ORPHANET:84	UBE2T	29089	HP:0000508	Ptosis
ORPHANET:84	UBE2T	29089	HP:0000175	Cleft palate
ORPHANET:84	UBE2T	29089	HP:0002863	Myelodysplasia
ORPHANET:84	UBE2T	29089	HP:0001763	Pes planus
ORPHANET:84	UBE2T	29089	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	UBE2T	29089	HP:0001903	Anemia
ORPHANET:84	UBE2T	29089	HP:0100026	Arteriovenous malformation
ORPHANET:84	UBE2T	29089	HP:0000238	Hydrocephalus
ORPHANET:84	UBE2T	29089	HP:0001392	Abnormality of the liver
ORPHANET:84	UBE2T	29089	HP:0000520	Proptosis
ORPHANET:84	UBE2T	29089	HP:0000486	Strabismus
ORPHANET:84	UBE2T	29089	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	UBE2T	29089	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	UBE2T	29089	HP:0100589	Urogenital fistula
ORPHANET:84	UBE2T	29089	HP:0000268	Dolichocephaly
ORPHANET:84	UBE2T	29089	HP:0000639	Nystagmus
ORPHANET:84	UBE2T	29089	HP:0100760	Clubbing of toes
ORPHANET:84	UBE2T	29089	HP:0100542	Abnormal localization of kidney
ORPHANET:84	UBE2T	29089	HP:0000286	Epicanthus
ORPHANET:84	UBE2T	29089	HP:0002119	Ventriculomegaly
ORPHANET:84	UBE2T	29089	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	UBE2T	29089	HP:0001770	Toe syndactyly
ORPHANET:84	UBE2T	29089	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	UBE2T	29089	HP:0004322	Short stature
ORPHANET:84	UBE2T	29089	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	UBE2T	29089	HP:0004349	Reduced bone mineral density
ORPHANET:84	UBE2T	29089	HP:0001053	Hypopigmented skin patches
ORPHANET:84	UBE2T	29089	HP:0001511	Intrauterine growth retardation
ORPHANET:84	UBE2T	29089	HP:0002650	Scoliosis
ORPHANET:84	UBE2T	29089	HP:0002414	Spina bifida
ORPHANET:84	UBE2T	29089	HP:0001679	Abnormality of the aorta
ORPHANET:84	UBE2T	29089	HP:0001873	Thrombocytopenia
ORPHANET:84	UBE2T	29089	HP:0001537	Umbilical hernia
ORPHANET:84	UBE2T	29089	HP:0002251	Aganglionic megacolon
ORPHANET:84	UBE2T	29089	HP:0003272	Abnormality of the hip bone
ORPHANET:84	UBE2T	29089	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	UBE2T	29089	HP:0000316	Hypertelorism
ORPHANET:84	UBE2T	29089	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	UBE2T	29089	HP:0002823	Abnormality of the femur
ORPHANET:84	UBE2T	29089	HP:0000347	Micrognathia
ORPHANET:84	UBE2T	29089	HP:0000324	Facial asymmetry
ORPHANET:84	UBE2T	29089	HP:0000518	Cataract
ORPHANET:84	UBE2T	29089	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	UBE2T	29089	HP:0001643	Patent ductus arteriosus
ORPHANET:84	UBE2T	29089	HP:0000505	Visual impairment
ORPHANET:84	UBE2T	29089	HP:0006824	Cranial nerve paralysis
ORPHANET:84	UBE2T	29089	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	UBE2T	29089	HP:0000028	Cryptorchidism
ORPHANET:84	UBE2T	29089	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	UBE2T	29089	HP:0002997	Abnormality of the ulna
ORPHANET:84	UBE2T	29089	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	UBE2T	29089	HP:0100867	Duodenal stenosis
ORPHANET:84	UBE2T	29089	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	UBE2T	29089	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	UBE2T	29089	HP:0000483	Astigmatism
ORPHANET:84	UBE2T	29089	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	UBE2T	29089	HP:0000340	Sloping forehead
ORPHANET:84	UBE2T	29089	HP:0000365	Hearing impairment
ORPHANET:84	UBE2T	29089	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	UBE2T	29089	HP:0001636	Tetralogy of Fallot
ORPHANET:84	UBE2T	29089	HP:0001347	Hyperreflexia
ORPHANET:84	UBE2T	29089	HP:0000581	Blepharophimosis
ORPHANET:84	UBE2T	29089	HP:0006101	Finger syndactyly
ORPHANET:84	UBE2T	29089	HP:0001824	Weight loss
ORPHANET:84	UBE2T	29089	HP:0000252	Microcephaly
ORPHANET:84	UBE2T	29089	HP:0000453	Choanal atresia
ORPHANET:84	UBE2T	29089	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	UBE2T	29089	HP:0100543	Cognitive impairment
ORPHANET:84	UBE2T	29089	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	UBE2T	29089	HP:0001882	Leukopenia
ORPHANET:84	UBE2T	29089	HP:0008572	External ear malformation
ORPHANET:84	UBE2T	29089	HP:0002245	Meckel diverticulum
ORPHANET:84	UBE2T	29089	HP:0100587	Abnormality of the preputium
ORPHANET:84	UBE2T	29089	HP:0001631	Atria septal defect
ORPHANET:84	UBE2T	29089	HP:0002007	Frontal bossing
ORPHANET:84	FANCE	2178	HP:0000083	Renal insufficiency
ORPHANET:84	FANCE	2178	HP:0000957	Cafe-au-lait spot
ORPHANET:84	FANCE	2178	HP:0001199	Triphalangeal thumb
ORPHANET:84	FANCE	2178	HP:0001562	Oligohydramnios
ORPHANET:84	FANCE	2178	HP:0000508	Ptosis
ORPHANET:84	FANCE	2178	HP:0000175	Cleft palate
ORPHANET:84	FANCE	2178	HP:0002863	Myelodysplasia
ORPHANET:84	FANCE	2178	HP:0001763	Pes planus
ORPHANET:84	FANCE	2178	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	FANCE	2178	HP:0001903	Anemia
ORPHANET:84	FANCE	2178	HP:0100026	Arteriovenous malformation
ORPHANET:84	FANCE	2178	HP:0000238	Hydrocephalus
ORPHANET:84	FANCE	2178	HP:0001392	Abnormality of the liver
ORPHANET:84	FANCE	2178	HP:0000520	Proptosis
ORPHANET:84	FANCE	2178	HP:0000486	Strabismus
ORPHANET:84	FANCE	2178	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	FANCE	2178	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	FANCE	2178	HP:0100589	Urogenital fistula
ORPHANET:84	FANCE	2178	HP:0000268	Dolichocephaly
ORPHANET:84	FANCE	2178	HP:0000639	Nystagmus
ORPHANET:84	FANCE	2178	HP:0100760	Clubbing of toes
ORPHANET:84	FANCE	2178	HP:0100542	Abnormal localization of kidney
ORPHANET:84	FANCE	2178	HP:0000286	Epicanthus
ORPHANET:84	FANCE	2178	HP:0002119	Ventriculomegaly
ORPHANET:84	FANCE	2178	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	FANCE	2178	HP:0001770	Toe syndactyly
ORPHANET:84	FANCE	2178	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	FANCE	2178	HP:0004322	Short stature
ORPHANET:84	FANCE	2178	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	FANCE	2178	HP:0004349	Reduced bone mineral density
ORPHANET:84	FANCE	2178	HP:0001053	Hypopigmented skin patches
ORPHANET:84	FANCE	2178	HP:0001511	Intrauterine growth retardation
ORPHANET:84	FANCE	2178	HP:0002650	Scoliosis
ORPHANET:84	FANCE	2178	HP:0002414	Spina bifida
ORPHANET:84	FANCE	2178	HP:0001679	Abnormality of the aorta
ORPHANET:84	FANCE	2178	HP:0001873	Thrombocytopenia
ORPHANET:84	FANCE	2178	HP:0001537	Umbilical hernia
ORPHANET:84	FANCE	2178	HP:0002251	Aganglionic megacolon
ORPHANET:84	FANCE	2178	HP:0003272	Abnormality of the hip bone
ORPHANET:84	FANCE	2178	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	FANCE	2178	HP:0000316	Hypertelorism
ORPHANET:84	FANCE	2178	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	FANCE	2178	HP:0002823	Abnormality of the femur
ORPHANET:84	FANCE	2178	HP:0000347	Micrognathia
ORPHANET:84	FANCE	2178	HP:0000324	Facial asymmetry
ORPHANET:84	FANCE	2178	HP:0000518	Cataract
ORPHANET:84	FANCE	2178	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	FANCE	2178	HP:0001643	Patent ductus arteriosus
ORPHANET:84	FANCE	2178	HP:0000505	Visual impairment
ORPHANET:84	FANCE	2178	HP:0006824	Cranial nerve paralysis
ORPHANET:84	FANCE	2178	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	FANCE	2178	HP:0000028	Cryptorchidism
ORPHANET:84	FANCE	2178	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	FANCE	2178	HP:0002997	Abnormality of the ulna
ORPHANET:84	FANCE	2178	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	FANCE	2178	HP:0100867	Duodenal stenosis
ORPHANET:84	FANCE	2178	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	FANCE	2178	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	FANCE	2178	HP:0000483	Astigmatism
ORPHANET:84	FANCE	2178	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	FANCE	2178	HP:0000340	Sloping forehead
ORPHANET:84	FANCE	2178	HP:0000365	Hearing impairment
ORPHANET:84	FANCE	2178	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	FANCE	2178	HP:0001636	Tetralogy of Fallot
ORPHANET:84	FANCE	2178	HP:0001347	Hyperreflexia
ORPHANET:84	FANCE	2178	HP:0000581	Blepharophimosis
ORPHANET:84	FANCE	2178	HP:0006101	Finger syndactyly
ORPHANET:84	FANCE	2178	HP:0001824	Weight loss
ORPHANET:84	FANCE	2178	HP:0000252	Microcephaly
ORPHANET:84	FANCE	2178	HP:0000453	Choanal atresia
ORPHANET:84	FANCE	2178	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	FANCE	2178	HP:0100543	Cognitive impairment
ORPHANET:84	FANCE	2178	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	FANCE	2178	HP:0001882	Leukopenia
ORPHANET:84	FANCE	2178	HP:0008572	External ear malformation
ORPHANET:84	FANCE	2178	HP:0002245	Meckel diverticulum
ORPHANET:84	FANCE	2178	HP:0100587	Abnormality of the preputium
ORPHANET:84	FANCE	2178	HP:0001631	Atria septal defect
ORPHANET:84	FANCE	2178	HP:0002007	Frontal bossing
ORPHANET:84	BRCA2	675	HP:0000083	Renal insufficiency
ORPHANET:84	BRCA2	675	HP:0000957	Cafe-au-lait spot
ORPHANET:84	BRCA2	675	HP:0001199	Triphalangeal thumb
ORPHANET:84	BRCA2	675	HP:0001562	Oligohydramnios
ORPHANET:84	BRCA2	675	HP:0000508	Ptosis
ORPHANET:84	BRCA2	675	HP:0000175	Cleft palate
ORPHANET:84	BRCA2	675	HP:0002863	Myelodysplasia
ORPHANET:84	BRCA2	675	HP:0001763	Pes planus
ORPHANET:84	BRCA2	675	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	BRCA2	675	HP:0001903	Anemia
ORPHANET:84	BRCA2	675	HP:0100026	Arteriovenous malformation
ORPHANET:84	BRCA2	675	HP:0000238	Hydrocephalus
ORPHANET:84	BRCA2	675	HP:0001392	Abnormality of the liver
ORPHANET:84	BRCA2	675	HP:0000520	Proptosis
ORPHANET:84	BRCA2	675	HP:0000486	Strabismus
ORPHANET:84	BRCA2	675	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	BRCA2	675	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	BRCA2	675	HP:0100589	Urogenital fistula
ORPHANET:84	BRCA2	675	HP:0000268	Dolichocephaly
ORPHANET:84	BRCA2	675	HP:0000639	Nystagmus
ORPHANET:84	BRCA2	675	HP:0100760	Clubbing of toes
ORPHANET:84	BRCA2	675	HP:0100542	Abnormal localization of kidney
ORPHANET:84	BRCA2	675	HP:0000286	Epicanthus
ORPHANET:84	BRCA2	675	HP:0002119	Ventriculomegaly
ORPHANET:84	BRCA2	675	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	BRCA2	675	HP:0001770	Toe syndactyly
ORPHANET:84	BRCA2	675	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	BRCA2	675	HP:0004322	Short stature
ORPHANET:84	BRCA2	675	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	BRCA2	675	HP:0004349	Reduced bone mineral density
ORPHANET:84	BRCA2	675	HP:0001053	Hypopigmented skin patches
ORPHANET:84	BRCA2	675	HP:0001511	Intrauterine growth retardation
ORPHANET:84	BRCA2	675	HP:0002650	Scoliosis
ORPHANET:84	BRCA2	675	HP:0002414	Spina bifida
ORPHANET:84	BRCA2	675	HP:0001679	Abnormality of the aorta
ORPHANET:84	BRCA2	675	HP:0001873	Thrombocytopenia
ORPHANET:84	BRCA2	675	HP:0001537	Umbilical hernia
ORPHANET:84	BRCA2	675	HP:0002251	Aganglionic megacolon
ORPHANET:84	BRCA2	675	HP:0003272	Abnormality of the hip bone
ORPHANET:84	BRCA2	675	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	BRCA2	675	HP:0000316	Hypertelorism
ORPHANET:84	BRCA2	675	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	BRCA2	675	HP:0002823	Abnormality of the femur
ORPHANET:84	BRCA2	675	HP:0000347	Micrognathia
ORPHANET:84	BRCA2	675	HP:0000324	Facial asymmetry
ORPHANET:84	BRCA2	675	HP:0000518	Cataract
ORPHANET:84	BRCA2	675	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	BRCA2	675	HP:0001643	Patent ductus arteriosus
ORPHANET:84	BRCA2	675	HP:0000505	Visual impairment
ORPHANET:84	BRCA2	675	HP:0006824	Cranial nerve paralysis
ORPHANET:84	BRCA2	675	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	BRCA2	675	HP:0000028	Cryptorchidism
ORPHANET:84	BRCA2	675	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	BRCA2	675	HP:0002997	Abnormality of the ulna
ORPHANET:84	BRCA2	675	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	BRCA2	675	HP:0100867	Duodenal stenosis
ORPHANET:84	BRCA2	675	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	BRCA2	675	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	BRCA2	675	HP:0000483	Astigmatism
ORPHANET:84	BRCA2	675	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	BRCA2	675	HP:0000340	Sloping forehead
ORPHANET:84	BRCA2	675	HP:0000365	Hearing impairment
ORPHANET:84	BRCA2	675	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	BRCA2	675	HP:0001636	Tetralogy of Fallot
ORPHANET:84	BRCA2	675	HP:0001347	Hyperreflexia
ORPHANET:84	BRCA2	675	HP:0000581	Blepharophimosis
ORPHANET:84	BRCA2	675	HP:0006101	Finger syndactyly
ORPHANET:84	BRCA2	675	HP:0001824	Weight loss
ORPHANET:84	BRCA2	675	HP:0000252	Microcephaly
ORPHANET:84	BRCA2	675	HP:0000453	Choanal atresia
ORPHANET:84	BRCA2	675	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	BRCA2	675	HP:0100543	Cognitive impairment
ORPHANET:84	BRCA2	675	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	BRCA2	675	HP:0001882	Leukopenia
ORPHANET:84	BRCA2	675	HP:0008572	External ear malformation
ORPHANET:84	BRCA2	675	HP:0002245	Meckel diverticulum
ORPHANET:84	BRCA2	675	HP:0100587	Abnormality of the preputium
ORPHANET:84	BRCA2	675	HP:0001631	Atria septal defect
ORPHANET:84	BRCA2	675	HP:0002007	Frontal bossing
ORPHANET:84	FANCB	2187	HP:0000083	Renal insufficiency
ORPHANET:84	FANCB	2187	HP:0000957	Cafe-au-lait spot
ORPHANET:84	FANCB	2187	HP:0001199	Triphalangeal thumb
ORPHANET:84	FANCB	2187	HP:0001562	Oligohydramnios
ORPHANET:84	FANCB	2187	HP:0000508	Ptosis
ORPHANET:84	FANCB	2187	HP:0000175	Cleft palate
ORPHANET:84	FANCB	2187	HP:0002863	Myelodysplasia
ORPHANET:84	FANCB	2187	HP:0001763	Pes planus
ORPHANET:84	FANCB	2187	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	FANCB	2187	HP:0001903	Anemia
ORPHANET:84	FANCB	2187	HP:0100026	Arteriovenous malformation
ORPHANET:84	FANCB	2187	HP:0000238	Hydrocephalus
ORPHANET:84	FANCB	2187	HP:0001392	Abnormality of the liver
ORPHANET:84	FANCB	2187	HP:0000520	Proptosis
ORPHANET:84	FANCB	2187	HP:0000486	Strabismus
ORPHANET:84	FANCB	2187	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	FANCB	2187	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	FANCB	2187	HP:0100589	Urogenital fistula
ORPHANET:84	FANCB	2187	HP:0000268	Dolichocephaly
ORPHANET:84	FANCB	2187	HP:0000639	Nystagmus
ORPHANET:84	FANCB	2187	HP:0100760	Clubbing of toes
ORPHANET:84	FANCB	2187	HP:0100542	Abnormal localization of kidney
ORPHANET:84	FANCB	2187	HP:0000286	Epicanthus
ORPHANET:84	FANCB	2187	HP:0002119	Ventriculomegaly
ORPHANET:84	FANCB	2187	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	FANCB	2187	HP:0001770	Toe syndactyly
ORPHANET:84	FANCB	2187	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	FANCB	2187	HP:0004322	Short stature
ORPHANET:84	FANCB	2187	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	FANCB	2187	HP:0004349	Reduced bone mineral density
ORPHANET:84	FANCB	2187	HP:0001053	Hypopigmented skin patches
ORPHANET:84	FANCB	2187	HP:0001511	Intrauterine growth retardation
ORPHANET:84	FANCB	2187	HP:0002650	Scoliosis
ORPHANET:84	FANCB	2187	HP:0002414	Spina bifida
ORPHANET:84	FANCB	2187	HP:0001679	Abnormality of the aorta
ORPHANET:84	FANCB	2187	HP:0001873	Thrombocytopenia
ORPHANET:84	FANCB	2187	HP:0001537	Umbilical hernia
ORPHANET:84	FANCB	2187	HP:0002251	Aganglionic megacolon
ORPHANET:84	FANCB	2187	HP:0003272	Abnormality of the hip bone
ORPHANET:84	FANCB	2187	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	FANCB	2187	HP:0000316	Hypertelorism
ORPHANET:84	FANCB	2187	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	FANCB	2187	HP:0002823	Abnormality of the femur
ORPHANET:84	FANCB	2187	HP:0000347	Micrognathia
ORPHANET:84	FANCB	2187	HP:0000324	Facial asymmetry
ORPHANET:84	FANCB	2187	HP:0000518	Cataract
ORPHANET:84	FANCB	2187	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	FANCB	2187	HP:0001643	Patent ductus arteriosus
ORPHANET:84	FANCB	2187	HP:0000505	Visual impairment
ORPHANET:84	FANCB	2187	HP:0006824	Cranial nerve paralysis
ORPHANET:84	FANCB	2187	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	FANCB	2187	HP:0000028	Cryptorchidism
ORPHANET:84	FANCB	2187	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	FANCB	2187	HP:0002997	Abnormality of the ulna
ORPHANET:84	FANCB	2187	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	FANCB	2187	HP:0100867	Duodenal stenosis
ORPHANET:84	FANCB	2187	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	FANCB	2187	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	FANCB	2187	HP:0000483	Astigmatism
ORPHANET:84	FANCB	2187	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	FANCB	2187	HP:0000340	Sloping forehead
ORPHANET:84	FANCB	2187	HP:0000365	Hearing impairment
ORPHANET:84	FANCB	2187	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	FANCB	2187	HP:0001636	Tetralogy of Fallot
ORPHANET:84	FANCB	2187	HP:0001347	Hyperreflexia
ORPHANET:84	FANCB	2187	HP:0000581	Blepharophimosis
ORPHANET:84	FANCB	2187	HP:0006101	Finger syndactyly
ORPHANET:84	FANCB	2187	HP:0001824	Weight loss
ORPHANET:84	FANCB	2187	HP:0000252	Microcephaly
ORPHANET:84	FANCB	2187	HP:0000453	Choanal atresia
ORPHANET:84	FANCB	2187	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	FANCB	2187	HP:0100543	Cognitive impairment
ORPHANET:84	FANCB	2187	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	FANCB	2187	HP:0001882	Leukopenia
ORPHANET:84	FANCB	2187	HP:0008572	External ear malformation
ORPHANET:84	FANCB	2187	HP:0002245	Meckel diverticulum
ORPHANET:84	FANCB	2187	HP:0100587	Abnormality of the preputium
ORPHANET:84	FANCB	2187	HP:0001631	Atria septal defect
ORPHANET:84	FANCB	2187	HP:0002007	Frontal bossing
ORPHANET:84	FANCF	2188	HP:0000083	Renal insufficiency
ORPHANET:84	FANCF	2188	HP:0000957	Cafe-au-lait spot
ORPHANET:84	FANCF	2188	HP:0001199	Triphalangeal thumb
ORPHANET:84	FANCF	2188	HP:0001562	Oligohydramnios
ORPHANET:84	FANCF	2188	HP:0000508	Ptosis
ORPHANET:84	FANCF	2188	HP:0000175	Cleft palate
ORPHANET:84	FANCF	2188	HP:0002863	Myelodysplasia
ORPHANET:84	FANCF	2188	HP:0001763	Pes planus
ORPHANET:84	FANCF	2188	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	FANCF	2188	HP:0001903	Anemia
ORPHANET:84	FANCF	2188	HP:0100026	Arteriovenous malformation
ORPHANET:84	FANCF	2188	HP:0000238	Hydrocephalus
ORPHANET:84	FANCF	2188	HP:0001392	Abnormality of the liver
ORPHANET:84	FANCF	2188	HP:0000520	Proptosis
ORPHANET:84	FANCF	2188	HP:0000486	Strabismus
ORPHANET:84	FANCF	2188	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	FANCF	2188	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	FANCF	2188	HP:0100589	Urogenital fistula
ORPHANET:84	FANCF	2188	HP:0000268	Dolichocephaly
ORPHANET:84	FANCF	2188	HP:0000639	Nystagmus
ORPHANET:84	FANCF	2188	HP:0100760	Clubbing of toes
ORPHANET:84	FANCF	2188	HP:0100542	Abnormal localization of kidney
ORPHANET:84	FANCF	2188	HP:0000286	Epicanthus
ORPHANET:84	FANCF	2188	HP:0002119	Ventriculomegaly
ORPHANET:84	FANCF	2188	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	FANCF	2188	HP:0001770	Toe syndactyly
ORPHANET:84	FANCF	2188	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	FANCF	2188	HP:0004322	Short stature
ORPHANET:84	FANCF	2188	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	FANCF	2188	HP:0004349	Reduced bone mineral density
ORPHANET:84	FANCF	2188	HP:0001053	Hypopigmented skin patches
ORPHANET:84	FANCF	2188	HP:0001511	Intrauterine growth retardation
ORPHANET:84	FANCF	2188	HP:0002650	Scoliosis
ORPHANET:84	FANCF	2188	HP:0002414	Spina bifida
ORPHANET:84	FANCF	2188	HP:0001679	Abnormality of the aorta
ORPHANET:84	FANCF	2188	HP:0001873	Thrombocytopenia
ORPHANET:84	FANCF	2188	HP:0001537	Umbilical hernia
ORPHANET:84	FANCF	2188	HP:0002251	Aganglionic megacolon
ORPHANET:84	FANCF	2188	HP:0003272	Abnormality of the hip bone
ORPHANET:84	FANCF	2188	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	FANCF	2188	HP:0000316	Hypertelorism
ORPHANET:84	FANCF	2188	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	FANCF	2188	HP:0002823	Abnormality of the femur
ORPHANET:84	FANCF	2188	HP:0000347	Micrognathia
ORPHANET:84	FANCF	2188	HP:0000324	Facial asymmetry
ORPHANET:84	FANCF	2188	HP:0000518	Cataract
ORPHANET:84	FANCF	2188	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	FANCF	2188	HP:0001643	Patent ductus arteriosus
ORPHANET:84	FANCF	2188	HP:0000505	Visual impairment
ORPHANET:84	FANCF	2188	HP:0006824	Cranial nerve paralysis
ORPHANET:84	FANCF	2188	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	FANCF	2188	HP:0000028	Cryptorchidism
ORPHANET:84	FANCF	2188	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	FANCF	2188	HP:0002997	Abnormality of the ulna
ORPHANET:84	FANCF	2188	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	FANCF	2188	HP:0100867	Duodenal stenosis
ORPHANET:84	FANCF	2188	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	FANCF	2188	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	FANCF	2188	HP:0000483	Astigmatism
ORPHANET:84	FANCF	2188	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	FANCF	2188	HP:0000340	Sloping forehead
ORPHANET:84	FANCF	2188	HP:0000365	Hearing impairment
ORPHANET:84	FANCF	2188	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	FANCF	2188	HP:0001636	Tetralogy of Fallot
ORPHANET:84	FANCF	2188	HP:0001347	Hyperreflexia
ORPHANET:84	FANCF	2188	HP:0000581	Blepharophimosis
ORPHANET:84	FANCF	2188	HP:0006101	Finger syndactyly
ORPHANET:84	FANCF	2188	HP:0001824	Weight loss
ORPHANET:84	FANCF	2188	HP:0000252	Microcephaly
ORPHANET:84	FANCF	2188	HP:0000453	Choanal atresia
ORPHANET:84	FANCF	2188	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	FANCF	2188	HP:0100543	Cognitive impairment
ORPHANET:84	FANCF	2188	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	FANCF	2188	HP:0001882	Leukopenia
ORPHANET:84	FANCF	2188	HP:0008572	External ear malformation
ORPHANET:84	FANCF	2188	HP:0002245	Meckel diverticulum
ORPHANET:84	FANCF	2188	HP:0100587	Abnormality of the preputium
ORPHANET:84	FANCF	2188	HP:0001631	Atria septal defect
ORPHANET:84	FANCF	2188	HP:0002007	Frontal bossing
ORPHANET:84	FANCG	2189	HP:0000083	Renal insufficiency
ORPHANET:84	FANCG	2189	HP:0000957	Cafe-au-lait spot
ORPHANET:84	FANCG	2189	HP:0001199	Triphalangeal thumb
ORPHANET:84	FANCG	2189	HP:0001562	Oligohydramnios
ORPHANET:84	FANCG	2189	HP:0000508	Ptosis
ORPHANET:84	FANCG	2189	HP:0000175	Cleft palate
ORPHANET:84	FANCG	2189	HP:0002863	Myelodysplasia
ORPHANET:84	FANCG	2189	HP:0001763	Pes planus
ORPHANET:84	FANCG	2189	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	FANCG	2189	HP:0001903	Anemia
ORPHANET:84	FANCG	2189	HP:0100026	Arteriovenous malformation
ORPHANET:84	FANCG	2189	HP:0000238	Hydrocephalus
ORPHANET:84	FANCG	2189	HP:0001392	Abnormality of the liver
ORPHANET:84	FANCG	2189	HP:0000520	Proptosis
ORPHANET:84	FANCG	2189	HP:0000486	Strabismus
ORPHANET:84	FANCG	2189	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	FANCG	2189	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	FANCG	2189	HP:0100589	Urogenital fistula
ORPHANET:84	FANCG	2189	HP:0000268	Dolichocephaly
ORPHANET:84	FANCG	2189	HP:0000639	Nystagmus
ORPHANET:84	FANCG	2189	HP:0100760	Clubbing of toes
ORPHANET:84	FANCG	2189	HP:0100542	Abnormal localization of kidney
ORPHANET:84	FANCG	2189	HP:0000286	Epicanthus
ORPHANET:84	FANCG	2189	HP:0002119	Ventriculomegaly
ORPHANET:84	FANCG	2189	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	FANCG	2189	HP:0001770	Toe syndactyly
ORPHANET:84	FANCG	2189	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	FANCG	2189	HP:0004322	Short stature
ORPHANET:84	FANCG	2189	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	FANCG	2189	HP:0004349	Reduced bone mineral density
ORPHANET:84	FANCG	2189	HP:0001053	Hypopigmented skin patches
ORPHANET:84	FANCG	2189	HP:0001511	Intrauterine growth retardation
ORPHANET:84	FANCG	2189	HP:0002650	Scoliosis
ORPHANET:84	FANCG	2189	HP:0002414	Spina bifida
ORPHANET:84	FANCG	2189	HP:0001679	Abnormality of the aorta
ORPHANET:84	FANCG	2189	HP:0001873	Thrombocytopenia
ORPHANET:84	FANCG	2189	HP:0001537	Umbilical hernia
ORPHANET:84	FANCG	2189	HP:0002251	Aganglionic megacolon
ORPHANET:84	FANCG	2189	HP:0003272	Abnormality of the hip bone
ORPHANET:84	FANCG	2189	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	FANCG	2189	HP:0000316	Hypertelorism
ORPHANET:84	FANCG	2189	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	FANCG	2189	HP:0002823	Abnormality of the femur
ORPHANET:84	FANCG	2189	HP:0000347	Micrognathia
ORPHANET:84	FANCG	2189	HP:0000324	Facial asymmetry
ORPHANET:84	FANCG	2189	HP:0000518	Cataract
ORPHANET:84	FANCG	2189	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	FANCG	2189	HP:0001643	Patent ductus arteriosus
ORPHANET:84	FANCG	2189	HP:0000505	Visual impairment
ORPHANET:84	FANCG	2189	HP:0006824	Cranial nerve paralysis
ORPHANET:84	FANCG	2189	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	FANCG	2189	HP:0000028	Cryptorchidism
ORPHANET:84	FANCG	2189	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	FANCG	2189	HP:0002997	Abnormality of the ulna
ORPHANET:84	FANCG	2189	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	FANCG	2189	HP:0100867	Duodenal stenosis
ORPHANET:84	FANCG	2189	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	FANCG	2189	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	FANCG	2189	HP:0000483	Astigmatism
ORPHANET:84	FANCG	2189	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	FANCG	2189	HP:0000340	Sloping forehead
ORPHANET:84	FANCG	2189	HP:0000365	Hearing impairment
ORPHANET:84	FANCG	2189	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	FANCG	2189	HP:0001636	Tetralogy of Fallot
ORPHANET:84	FANCG	2189	HP:0001347	Hyperreflexia
ORPHANET:84	FANCG	2189	HP:0000581	Blepharophimosis
ORPHANET:84	FANCG	2189	HP:0006101	Finger syndactyly
ORPHANET:84	FANCG	2189	HP:0001824	Weight loss
ORPHANET:84	FANCG	2189	HP:0000252	Microcephaly
ORPHANET:84	FANCG	2189	HP:0000453	Choanal atresia
ORPHANET:84	FANCG	2189	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	FANCG	2189	HP:0100543	Cognitive impairment
ORPHANET:84	FANCG	2189	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	FANCG	2189	HP:0001882	Leukopenia
ORPHANET:84	FANCG	2189	HP:0008572	External ear malformation
ORPHANET:84	FANCG	2189	HP:0002245	Meckel diverticulum
ORPHANET:84	FANCG	2189	HP:0100587	Abnormality of the preputium
ORPHANET:84	FANCG	2189	HP:0001631	Atria septal defect
ORPHANET:84	FANCG	2189	HP:0002007	Frontal bossing
ORPHANET:84	FANCI	55215	HP:0000083	Renal insufficiency
ORPHANET:84	FANCI	55215	HP:0000957	Cafe-au-lait spot
ORPHANET:84	FANCI	55215	HP:0001199	Triphalangeal thumb
ORPHANET:84	FANCI	55215	HP:0001562	Oligohydramnios
ORPHANET:84	FANCI	55215	HP:0000508	Ptosis
ORPHANET:84	FANCI	55215	HP:0000175	Cleft palate
ORPHANET:84	FANCI	55215	HP:0002863	Myelodysplasia
ORPHANET:84	FANCI	55215	HP:0001763	Pes planus
ORPHANET:84	FANCI	55215	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	FANCI	55215	HP:0001903	Anemia
ORPHANET:84	FANCI	55215	HP:0100026	Arteriovenous malformation
ORPHANET:84	FANCI	55215	HP:0000238	Hydrocephalus
ORPHANET:84	FANCI	55215	HP:0001392	Abnormality of the liver
ORPHANET:84	FANCI	55215	HP:0000520	Proptosis
ORPHANET:84	FANCI	55215	HP:0000486	Strabismus
ORPHANET:84	FANCI	55215	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	FANCI	55215	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	FANCI	55215	HP:0100589	Urogenital fistula
ORPHANET:84	FANCI	55215	HP:0000268	Dolichocephaly
ORPHANET:84	FANCI	55215	HP:0000639	Nystagmus
ORPHANET:84	FANCI	55215	HP:0100760	Clubbing of toes
ORPHANET:84	FANCI	55215	HP:0100542	Abnormal localization of kidney
ORPHANET:84	FANCI	55215	HP:0000286	Epicanthus
ORPHANET:84	FANCI	55215	HP:0002119	Ventriculomegaly
ORPHANET:84	FANCI	55215	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	FANCI	55215	HP:0001770	Toe syndactyly
ORPHANET:84	FANCI	55215	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	FANCI	55215	HP:0004322	Short stature
ORPHANET:84	FANCI	55215	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	FANCI	55215	HP:0004349	Reduced bone mineral density
ORPHANET:84	FANCI	55215	HP:0001053	Hypopigmented skin patches
ORPHANET:84	FANCI	55215	HP:0001511	Intrauterine growth retardation
ORPHANET:84	FANCI	55215	HP:0002650	Scoliosis
ORPHANET:84	FANCI	55215	HP:0002414	Spina bifida
ORPHANET:84	FANCI	55215	HP:0001679	Abnormality of the aorta
ORPHANET:84	FANCI	55215	HP:0001873	Thrombocytopenia
ORPHANET:84	FANCI	55215	HP:0001537	Umbilical hernia
ORPHANET:84	FANCI	55215	HP:0002251	Aganglionic megacolon
ORPHANET:84	FANCI	55215	HP:0003272	Abnormality of the hip bone
ORPHANET:84	FANCI	55215	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	FANCI	55215	HP:0000316	Hypertelorism
ORPHANET:84	FANCI	55215	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	FANCI	55215	HP:0002823	Abnormality of the femur
ORPHANET:84	FANCI	55215	HP:0000347	Micrognathia
ORPHANET:84	FANCI	55215	HP:0000324	Facial asymmetry
ORPHANET:84	FANCI	55215	HP:0000518	Cataract
ORPHANET:84	FANCI	55215	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	FANCI	55215	HP:0001643	Patent ductus arteriosus
ORPHANET:84	FANCI	55215	HP:0000505	Visual impairment
ORPHANET:84	FANCI	55215	HP:0006824	Cranial nerve paralysis
ORPHANET:84	FANCI	55215	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	FANCI	55215	HP:0000028	Cryptorchidism
ORPHANET:84	FANCI	55215	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	FANCI	55215	HP:0002997	Abnormality of the ulna
ORPHANET:84	FANCI	55215	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	FANCI	55215	HP:0100867	Duodenal stenosis
ORPHANET:84	FANCI	55215	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	FANCI	55215	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	FANCI	55215	HP:0000483	Astigmatism
ORPHANET:84	FANCI	55215	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	FANCI	55215	HP:0000340	Sloping forehead
ORPHANET:84	FANCI	55215	HP:0000365	Hearing impairment
ORPHANET:84	FANCI	55215	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	FANCI	55215	HP:0001636	Tetralogy of Fallot
ORPHANET:84	FANCI	55215	HP:0001347	Hyperreflexia
ORPHANET:84	FANCI	55215	HP:0000581	Blepharophimosis
ORPHANET:84	FANCI	55215	HP:0006101	Finger syndactyly
ORPHANET:84	FANCI	55215	HP:0001824	Weight loss
ORPHANET:84	FANCI	55215	HP:0000252	Microcephaly
ORPHANET:84	FANCI	55215	HP:0000453	Choanal atresia
ORPHANET:84	FANCI	55215	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	FANCI	55215	HP:0100543	Cognitive impairment
ORPHANET:84	FANCI	55215	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	FANCI	55215	HP:0001882	Leukopenia
ORPHANET:84	FANCI	55215	HP:0008572	External ear malformation
ORPHANET:84	FANCI	55215	HP:0002245	Meckel diverticulum
ORPHANET:84	FANCI	55215	HP:0100587	Abnormality of the preputium
ORPHANET:84	FANCI	55215	HP:0001631	Atria septal defect
ORPHANET:84	FANCI	55215	HP:0002007	Frontal bossing
ORPHANET:84	FANCL	55120	HP:0000083	Renal insufficiency
ORPHANET:84	FANCL	55120	HP:0000957	Cafe-au-lait spot
ORPHANET:84	FANCL	55120	HP:0001199	Triphalangeal thumb
ORPHANET:84	FANCL	55120	HP:0001562	Oligohydramnios
ORPHANET:84	FANCL	55120	HP:0000508	Ptosis
ORPHANET:84	FANCL	55120	HP:0000175	Cleft palate
ORPHANET:84	FANCL	55120	HP:0002863	Myelodysplasia
ORPHANET:84	FANCL	55120	HP:0001763	Pes planus
ORPHANET:84	FANCL	55120	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	FANCL	55120	HP:0001903	Anemia
ORPHANET:84	FANCL	55120	HP:0100026	Arteriovenous malformation
ORPHANET:84	FANCL	55120	HP:0000238	Hydrocephalus
ORPHANET:84	FANCL	55120	HP:0001392	Abnormality of the liver
ORPHANET:84	FANCL	55120	HP:0000520	Proptosis
ORPHANET:84	FANCL	55120	HP:0000486	Strabismus
ORPHANET:84	FANCL	55120	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	FANCL	55120	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	FANCL	55120	HP:0100589	Urogenital fistula
ORPHANET:84	FANCL	55120	HP:0000268	Dolichocephaly
ORPHANET:84	FANCL	55120	HP:0000639	Nystagmus
ORPHANET:84	FANCL	55120	HP:0100760	Clubbing of toes
ORPHANET:84	FANCL	55120	HP:0100542	Abnormal localization of kidney
ORPHANET:84	FANCL	55120	HP:0000286	Epicanthus
ORPHANET:84	FANCL	55120	HP:0002119	Ventriculomegaly
ORPHANET:84	FANCL	55120	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	FANCL	55120	HP:0001770	Toe syndactyly
ORPHANET:84	FANCL	55120	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	FANCL	55120	HP:0004322	Short stature
ORPHANET:84	FANCL	55120	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	FANCL	55120	HP:0004349	Reduced bone mineral density
ORPHANET:84	FANCL	55120	HP:0001053	Hypopigmented skin patches
ORPHANET:84	FANCL	55120	HP:0001511	Intrauterine growth retardation
ORPHANET:84	FANCL	55120	HP:0002650	Scoliosis
ORPHANET:84	FANCL	55120	HP:0002414	Spina bifida
ORPHANET:84	FANCL	55120	HP:0001679	Abnormality of the aorta
ORPHANET:84	FANCL	55120	HP:0001873	Thrombocytopenia
ORPHANET:84	FANCL	55120	HP:0001537	Umbilical hernia
ORPHANET:84	FANCL	55120	HP:0002251	Aganglionic megacolon
ORPHANET:84	FANCL	55120	HP:0003272	Abnormality of the hip bone
ORPHANET:84	FANCL	55120	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	FANCL	55120	HP:0000316	Hypertelorism
ORPHANET:84	FANCL	55120	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	FANCL	55120	HP:0002823	Abnormality of the femur
ORPHANET:84	FANCL	55120	HP:0000347	Micrognathia
ORPHANET:84	FANCL	55120	HP:0000324	Facial asymmetry
ORPHANET:84	FANCL	55120	HP:0000518	Cataract
ORPHANET:84	FANCL	55120	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	FANCL	55120	HP:0001643	Patent ductus arteriosus
ORPHANET:84	FANCL	55120	HP:0000505	Visual impairment
ORPHANET:84	FANCL	55120	HP:0006824	Cranial nerve paralysis
ORPHANET:84	FANCL	55120	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	FANCL	55120	HP:0000028	Cryptorchidism
ORPHANET:84	FANCL	55120	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	FANCL	55120	HP:0002997	Abnormality of the ulna
ORPHANET:84	FANCL	55120	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	FANCL	55120	HP:0100867	Duodenal stenosis
ORPHANET:84	FANCL	55120	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	FANCL	55120	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	FANCL	55120	HP:0000483	Astigmatism
ORPHANET:84	FANCL	55120	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	FANCL	55120	HP:0000340	Sloping forehead
ORPHANET:84	FANCL	55120	HP:0000365	Hearing impairment
ORPHANET:84	FANCL	55120	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	FANCL	55120	HP:0001636	Tetralogy of Fallot
ORPHANET:84	FANCL	55120	HP:0001347	Hyperreflexia
ORPHANET:84	FANCL	55120	HP:0000581	Blepharophimosis
ORPHANET:84	FANCL	55120	HP:0006101	Finger syndactyly
ORPHANET:84	FANCL	55120	HP:0001824	Weight loss
ORPHANET:84	FANCL	55120	HP:0000252	Microcephaly
ORPHANET:84	FANCL	55120	HP:0000453	Choanal atresia
ORPHANET:84	FANCL	55120	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	FANCL	55120	HP:0100543	Cognitive impairment
ORPHANET:84	FANCL	55120	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	FANCL	55120	HP:0001882	Leukopenia
ORPHANET:84	FANCL	55120	HP:0008572	External ear malformation
ORPHANET:84	FANCL	55120	HP:0002245	Meckel diverticulum
ORPHANET:84	FANCL	55120	HP:0100587	Abnormality of the preputium
ORPHANET:84	FANCL	55120	HP:0001631	Atria septal defect
ORPHANET:84	FANCL	55120	HP:0002007	Frontal bossing
ORPHANET:84	PALB2	79728	HP:0000083	Renal insufficiency
ORPHANET:84	PALB2	79728	HP:0000957	Cafe-au-lait spot
ORPHANET:84	PALB2	79728	HP:0001199	Triphalangeal thumb
ORPHANET:84	PALB2	79728	HP:0001562	Oligohydramnios
ORPHANET:84	PALB2	79728	HP:0000508	Ptosis
ORPHANET:84	PALB2	79728	HP:0000175	Cleft palate
ORPHANET:84	PALB2	79728	HP:0002863	Myelodysplasia
ORPHANET:84	PALB2	79728	HP:0001763	Pes planus
ORPHANET:84	PALB2	79728	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	PALB2	79728	HP:0001903	Anemia
ORPHANET:84	PALB2	79728	HP:0100026	Arteriovenous malformation
ORPHANET:84	PALB2	79728	HP:0000238	Hydrocephalus
ORPHANET:84	PALB2	79728	HP:0001392	Abnormality of the liver
ORPHANET:84	PALB2	79728	HP:0000520	Proptosis
ORPHANET:84	PALB2	79728	HP:0000486	Strabismus
ORPHANET:84	PALB2	79728	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	PALB2	79728	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	PALB2	79728	HP:0100589	Urogenital fistula
ORPHANET:84	PALB2	79728	HP:0000268	Dolichocephaly
ORPHANET:84	PALB2	79728	HP:0000639	Nystagmus
ORPHANET:84	PALB2	79728	HP:0100760	Clubbing of toes
ORPHANET:84	PALB2	79728	HP:0100542	Abnormal localization of kidney
ORPHANET:84	PALB2	79728	HP:0000286	Epicanthus
ORPHANET:84	PALB2	79728	HP:0002119	Ventriculomegaly
ORPHANET:84	PALB2	79728	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	PALB2	79728	HP:0001770	Toe syndactyly
ORPHANET:84	PALB2	79728	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	PALB2	79728	HP:0004322	Short stature
ORPHANET:84	PALB2	79728	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	PALB2	79728	HP:0004349	Reduced bone mineral density
ORPHANET:84	PALB2	79728	HP:0001053	Hypopigmented skin patches
ORPHANET:84	PALB2	79728	HP:0001511	Intrauterine growth retardation
ORPHANET:84	PALB2	79728	HP:0002650	Scoliosis
ORPHANET:84	PALB2	79728	HP:0002414	Spina bifida
ORPHANET:84	PALB2	79728	HP:0001679	Abnormality of the aorta
ORPHANET:84	PALB2	79728	HP:0001873	Thrombocytopenia
ORPHANET:84	PALB2	79728	HP:0001537	Umbilical hernia
ORPHANET:84	PALB2	79728	HP:0002251	Aganglionic megacolon
ORPHANET:84	PALB2	79728	HP:0003272	Abnormality of the hip bone
ORPHANET:84	PALB2	79728	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	PALB2	79728	HP:0000316	Hypertelorism
ORPHANET:84	PALB2	79728	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	PALB2	79728	HP:0002823	Abnormality of the femur
ORPHANET:84	PALB2	79728	HP:0000347	Micrognathia
ORPHANET:84	PALB2	79728	HP:0000324	Facial asymmetry
ORPHANET:84	PALB2	79728	HP:0000518	Cataract
ORPHANET:84	PALB2	79728	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	PALB2	79728	HP:0001643	Patent ductus arteriosus
ORPHANET:84	PALB2	79728	HP:0000505	Visual impairment
ORPHANET:84	PALB2	79728	HP:0006824	Cranial nerve paralysis
ORPHANET:84	PALB2	79728	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	PALB2	79728	HP:0000028	Cryptorchidism
ORPHANET:84	PALB2	79728	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	PALB2	79728	HP:0002997	Abnormality of the ulna
ORPHANET:84	PALB2	79728	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	PALB2	79728	HP:0100867	Duodenal stenosis
ORPHANET:84	PALB2	79728	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	PALB2	79728	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	PALB2	79728	HP:0000483	Astigmatism
ORPHANET:84	PALB2	79728	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	PALB2	79728	HP:0000340	Sloping forehead
ORPHANET:84	PALB2	79728	HP:0000365	Hearing impairment
ORPHANET:84	PALB2	79728	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	PALB2	79728	HP:0001636	Tetralogy of Fallot
ORPHANET:84	PALB2	79728	HP:0001347	Hyperreflexia
ORPHANET:84	PALB2	79728	HP:0000581	Blepharophimosis
ORPHANET:84	PALB2	79728	HP:0006101	Finger syndactyly
ORPHANET:84	PALB2	79728	HP:0001824	Weight loss
ORPHANET:84	PALB2	79728	HP:0000252	Microcephaly
ORPHANET:84	PALB2	79728	HP:0000453	Choanal atresia
ORPHANET:84	PALB2	79728	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	PALB2	79728	HP:0100543	Cognitive impairment
ORPHANET:84	PALB2	79728	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	PALB2	79728	HP:0001882	Leukopenia
ORPHANET:84	PALB2	79728	HP:0008572	External ear malformation
ORPHANET:84	PALB2	79728	HP:0002245	Meckel diverticulum
ORPHANET:84	PALB2	79728	HP:0100587	Abnormality of the preputium
ORPHANET:84	PALB2	79728	HP:0001631	Atria septal defect
ORPHANET:84	PALB2	79728	HP:0002007	Frontal bossing
ORPHANET:84	SLX4	84464	HP:0000083	Renal insufficiency
ORPHANET:84	SLX4	84464	HP:0000957	Cafe-au-lait spot
ORPHANET:84	SLX4	84464	HP:0001199	Triphalangeal thumb
ORPHANET:84	SLX4	84464	HP:0001562	Oligohydramnios
ORPHANET:84	SLX4	84464	HP:0000508	Ptosis
ORPHANET:84	SLX4	84464	HP:0000175	Cleft palate
ORPHANET:84	SLX4	84464	HP:0002863	Myelodysplasia
ORPHANET:84	SLX4	84464	HP:0001763	Pes planus
ORPHANET:84	SLX4	84464	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	SLX4	84464	HP:0001903	Anemia
ORPHANET:84	SLX4	84464	HP:0100026	Arteriovenous malformation
ORPHANET:84	SLX4	84464	HP:0000238	Hydrocephalus
ORPHANET:84	SLX4	84464	HP:0001392	Abnormality of the liver
ORPHANET:84	SLX4	84464	HP:0000520	Proptosis
ORPHANET:84	SLX4	84464	HP:0000486	Strabismus
ORPHANET:84	SLX4	84464	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	SLX4	84464	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	SLX4	84464	HP:0100589	Urogenital fistula
ORPHANET:84	SLX4	84464	HP:0000268	Dolichocephaly
ORPHANET:84	SLX4	84464	HP:0000639	Nystagmus
ORPHANET:84	SLX4	84464	HP:0100760	Clubbing of toes
ORPHANET:84	SLX4	84464	HP:0100542	Abnormal localization of kidney
ORPHANET:84	SLX4	84464	HP:0000286	Epicanthus
ORPHANET:84	SLX4	84464	HP:0002119	Ventriculomegaly
ORPHANET:84	SLX4	84464	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	SLX4	84464	HP:0001770	Toe syndactyly
ORPHANET:84	SLX4	84464	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	SLX4	84464	HP:0004322	Short stature
ORPHANET:84	SLX4	84464	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	SLX4	84464	HP:0004349	Reduced bone mineral density
ORPHANET:84	SLX4	84464	HP:0001053	Hypopigmented skin patches
ORPHANET:84	SLX4	84464	HP:0001511	Intrauterine growth retardation
ORPHANET:84	SLX4	84464	HP:0002650	Scoliosis
ORPHANET:84	SLX4	84464	HP:0002414	Spina bifida
ORPHANET:84	SLX4	84464	HP:0001679	Abnormality of the aorta
ORPHANET:84	SLX4	84464	HP:0001873	Thrombocytopenia
ORPHANET:84	SLX4	84464	HP:0001537	Umbilical hernia
ORPHANET:84	SLX4	84464	HP:0002251	Aganglionic megacolon
ORPHANET:84	SLX4	84464	HP:0003272	Abnormality of the hip bone
ORPHANET:84	SLX4	84464	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	SLX4	84464	HP:0000316	Hypertelorism
ORPHANET:84	SLX4	84464	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	SLX4	84464	HP:0002823	Abnormality of the femur
ORPHANET:84	SLX4	84464	HP:0000347	Micrognathia
ORPHANET:84	SLX4	84464	HP:0000324	Facial asymmetry
ORPHANET:84	SLX4	84464	HP:0000518	Cataract
ORPHANET:84	SLX4	84464	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	SLX4	84464	HP:0001643	Patent ductus arteriosus
ORPHANET:84	SLX4	84464	HP:0000505	Visual impairment
ORPHANET:84	SLX4	84464	HP:0006824	Cranial nerve paralysis
ORPHANET:84	SLX4	84464	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	SLX4	84464	HP:0000028	Cryptorchidism
ORPHANET:84	SLX4	84464	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	SLX4	84464	HP:0002997	Abnormality of the ulna
ORPHANET:84	SLX4	84464	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	SLX4	84464	HP:0100867	Duodenal stenosis
ORPHANET:84	SLX4	84464	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	SLX4	84464	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	SLX4	84464	HP:0000483	Astigmatism
ORPHANET:84	SLX4	84464	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	SLX4	84464	HP:0000340	Sloping forehead
ORPHANET:84	SLX4	84464	HP:0000365	Hearing impairment
ORPHANET:84	SLX4	84464	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	SLX4	84464	HP:0001636	Tetralogy of Fallot
ORPHANET:84	SLX4	84464	HP:0001347	Hyperreflexia
ORPHANET:84	SLX4	84464	HP:0000581	Blepharophimosis
ORPHANET:84	SLX4	84464	HP:0006101	Finger syndactyly
ORPHANET:84	SLX4	84464	HP:0001824	Weight loss
ORPHANET:84	SLX4	84464	HP:0000252	Microcephaly
ORPHANET:84	SLX4	84464	HP:0000453	Choanal atresia
ORPHANET:84	SLX4	84464	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	SLX4	84464	HP:0100543	Cognitive impairment
ORPHANET:84	SLX4	84464	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	SLX4	84464	HP:0001882	Leukopenia
ORPHANET:84	SLX4	84464	HP:0008572	External ear malformation
ORPHANET:84	SLX4	84464	HP:0002245	Meckel diverticulum
ORPHANET:84	SLX4	84464	HP:0100587	Abnormality of the preputium
ORPHANET:84	SLX4	84464	HP:0001631	Atria septal defect
ORPHANET:84	SLX4	84464	HP:0002007	Frontal bossing
ORPHANET:84	BRIP1	83990	HP:0000083	Renal insufficiency
ORPHANET:84	BRIP1	83990	HP:0000957	Cafe-au-lait spot
ORPHANET:84	BRIP1	83990	HP:0001199	Triphalangeal thumb
ORPHANET:84	BRIP1	83990	HP:0001562	Oligohydramnios
ORPHANET:84	BRIP1	83990	HP:0000508	Ptosis
ORPHANET:84	BRIP1	83990	HP:0000175	Cleft palate
ORPHANET:84	BRIP1	83990	HP:0002863	Myelodysplasia
ORPHANET:84	BRIP1	83990	HP:0001763	Pes planus
ORPHANET:84	BRIP1	83990	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	BRIP1	83990	HP:0001903	Anemia
ORPHANET:84	BRIP1	83990	HP:0100026	Arteriovenous malformation
ORPHANET:84	BRIP1	83990	HP:0000238	Hydrocephalus
ORPHANET:84	BRIP1	83990	HP:0001392	Abnormality of the liver
ORPHANET:84	BRIP1	83990	HP:0000520	Proptosis
ORPHANET:84	BRIP1	83990	HP:0000486	Strabismus
ORPHANET:84	BRIP1	83990	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	BRIP1	83990	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	BRIP1	83990	HP:0100589	Urogenital fistula
ORPHANET:84	BRIP1	83990	HP:0000268	Dolichocephaly
ORPHANET:84	BRIP1	83990	HP:0000639	Nystagmus
ORPHANET:84	BRIP1	83990	HP:0100760	Clubbing of toes
ORPHANET:84	BRIP1	83990	HP:0100542	Abnormal localization of kidney
ORPHANET:84	BRIP1	83990	HP:0000286	Epicanthus
ORPHANET:84	BRIP1	83990	HP:0002119	Ventriculomegaly
ORPHANET:84	BRIP1	83990	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	BRIP1	83990	HP:0001770	Toe syndactyly
ORPHANET:84	BRIP1	83990	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	BRIP1	83990	HP:0004322	Short stature
ORPHANET:84	BRIP1	83990	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	BRIP1	83990	HP:0004349	Reduced bone mineral density
ORPHANET:84	BRIP1	83990	HP:0001053	Hypopigmented skin patches
ORPHANET:84	BRIP1	83990	HP:0001511	Intrauterine growth retardation
ORPHANET:84	BRIP1	83990	HP:0002650	Scoliosis
ORPHANET:84	BRIP1	83990	HP:0002414	Spina bifida
ORPHANET:84	BRIP1	83990	HP:0001679	Abnormality of the aorta
ORPHANET:84	BRIP1	83990	HP:0001873	Thrombocytopenia
ORPHANET:84	BRIP1	83990	HP:0001537	Umbilical hernia
ORPHANET:84	BRIP1	83990	HP:0002251	Aganglionic megacolon
ORPHANET:84	BRIP1	83990	HP:0003272	Abnormality of the hip bone
ORPHANET:84	BRIP1	83990	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	BRIP1	83990	HP:0000316	Hypertelorism
ORPHANET:84	BRIP1	83990	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	BRIP1	83990	HP:0002823	Abnormality of the femur
ORPHANET:84	BRIP1	83990	HP:0000347	Micrognathia
ORPHANET:84	BRIP1	83990	HP:0000324	Facial asymmetry
ORPHANET:84	BRIP1	83990	HP:0000518	Cataract
ORPHANET:84	BRIP1	83990	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	BRIP1	83990	HP:0001643	Patent ductus arteriosus
ORPHANET:84	BRIP1	83990	HP:0000505	Visual impairment
ORPHANET:84	BRIP1	83990	HP:0006824	Cranial nerve paralysis
ORPHANET:84	BRIP1	83990	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	BRIP1	83990	HP:0000028	Cryptorchidism
ORPHANET:84	BRIP1	83990	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	BRIP1	83990	HP:0002997	Abnormality of the ulna
ORPHANET:84	BRIP1	83990	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	BRIP1	83990	HP:0100867	Duodenal stenosis
ORPHANET:84	BRIP1	83990	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	BRIP1	83990	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	BRIP1	83990	HP:0000483	Astigmatism
ORPHANET:84	BRIP1	83990	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	BRIP1	83990	HP:0000340	Sloping forehead
ORPHANET:84	BRIP1	83990	HP:0000365	Hearing impairment
ORPHANET:84	BRIP1	83990	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	BRIP1	83990	HP:0001636	Tetralogy of Fallot
ORPHANET:84	BRIP1	83990	HP:0001347	Hyperreflexia
ORPHANET:84	BRIP1	83990	HP:0000581	Blepharophimosis
ORPHANET:84	BRIP1	83990	HP:0006101	Finger syndactyly
ORPHANET:84	BRIP1	83990	HP:0001824	Weight loss
ORPHANET:84	BRIP1	83990	HP:0000252	Microcephaly
ORPHANET:84	BRIP1	83990	HP:0000453	Choanal atresia
ORPHANET:84	BRIP1	83990	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	BRIP1	83990	HP:0100543	Cognitive impairment
ORPHANET:84	BRIP1	83990	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	BRIP1	83990	HP:0001882	Leukopenia
ORPHANET:84	BRIP1	83990	HP:0008572	External ear malformation
ORPHANET:84	BRIP1	83990	HP:0002245	Meckel diverticulum
ORPHANET:84	BRIP1	83990	HP:0100587	Abnormality of the preputium
ORPHANET:84	BRIP1	83990	HP:0001631	Atria septal defect
ORPHANET:84	BRIP1	83990	HP:0002007	Frontal bossing
ORPHANET:84	ERCC4	2072	HP:0000083	Renal insufficiency
ORPHANET:84	ERCC4	2072	HP:0000957	Cafe-au-lait spot
ORPHANET:84	ERCC4	2072	HP:0001199	Triphalangeal thumb
ORPHANET:84	ERCC4	2072	HP:0001562	Oligohydramnios
ORPHANET:84	ERCC4	2072	HP:0000508	Ptosis
ORPHANET:84	ERCC4	2072	HP:0000175	Cleft palate
ORPHANET:84	ERCC4	2072	HP:0002863	Myelodysplasia
ORPHANET:84	ERCC4	2072	HP:0001763	Pes planus
ORPHANET:84	ERCC4	2072	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	ERCC4	2072	HP:0001903	Anemia
ORPHANET:84	ERCC4	2072	HP:0100026	Arteriovenous malformation
ORPHANET:84	ERCC4	2072	HP:0000238	Hydrocephalus
ORPHANET:84	ERCC4	2072	HP:0001392	Abnormality of the liver
ORPHANET:84	ERCC4	2072	HP:0000520	Proptosis
ORPHANET:84	ERCC4	2072	HP:0000486	Strabismus
ORPHANET:84	ERCC4	2072	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	ERCC4	2072	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	ERCC4	2072	HP:0100589	Urogenital fistula
ORPHANET:84	ERCC4	2072	HP:0000268	Dolichocephaly
ORPHANET:84	ERCC4	2072	HP:0000639	Nystagmus
ORPHANET:84	ERCC4	2072	HP:0100760	Clubbing of toes
ORPHANET:84	ERCC4	2072	HP:0100542	Abnormal localization of kidney
ORPHANET:84	ERCC4	2072	HP:0000286	Epicanthus
ORPHANET:84	ERCC4	2072	HP:0002119	Ventriculomegaly
ORPHANET:84	ERCC4	2072	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	ERCC4	2072	HP:0001770	Toe syndactyly
ORPHANET:84	ERCC4	2072	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	ERCC4	2072	HP:0004322	Short stature
ORPHANET:84	ERCC4	2072	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	ERCC4	2072	HP:0004349	Reduced bone mineral density
ORPHANET:84	ERCC4	2072	HP:0001053	Hypopigmented skin patches
ORPHANET:84	ERCC4	2072	HP:0001511	Intrauterine growth retardation
ORPHANET:84	ERCC4	2072	HP:0002650	Scoliosis
ORPHANET:84	ERCC4	2072	HP:0002414	Spina bifida
ORPHANET:84	ERCC4	2072	HP:0001679	Abnormality of the aorta
ORPHANET:84	ERCC4	2072	HP:0001873	Thrombocytopenia
ORPHANET:84	ERCC4	2072	HP:0001537	Umbilical hernia
ORPHANET:84	ERCC4	2072	HP:0002251	Aganglionic megacolon
ORPHANET:84	ERCC4	2072	HP:0003272	Abnormality of the hip bone
ORPHANET:84	ERCC4	2072	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	ERCC4	2072	HP:0000316	Hypertelorism
ORPHANET:84	ERCC4	2072	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	ERCC4	2072	HP:0002823	Abnormality of the femur
ORPHANET:84	ERCC4	2072	HP:0000347	Micrognathia
ORPHANET:84	ERCC4	2072	HP:0000324	Facial asymmetry
ORPHANET:84	ERCC4	2072	HP:0000518	Cataract
ORPHANET:84	ERCC4	2072	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	ERCC4	2072	HP:0001643	Patent ductus arteriosus
ORPHANET:84	ERCC4	2072	HP:0000505	Visual impairment
ORPHANET:84	ERCC4	2072	HP:0006824	Cranial nerve paralysis
ORPHANET:84	ERCC4	2072	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	ERCC4	2072	HP:0000028	Cryptorchidism
ORPHANET:84	ERCC4	2072	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	ERCC4	2072	HP:0002997	Abnormality of the ulna
ORPHANET:84	ERCC4	2072	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	ERCC4	2072	HP:0100867	Duodenal stenosis
ORPHANET:84	ERCC4	2072	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	ERCC4	2072	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	ERCC4	2072	HP:0000483	Astigmatism
ORPHANET:84	ERCC4	2072	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	ERCC4	2072	HP:0000340	Sloping forehead
ORPHANET:84	ERCC4	2072	HP:0000365	Hearing impairment
ORPHANET:84	ERCC4	2072	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	ERCC4	2072	HP:0001636	Tetralogy of Fallot
ORPHANET:84	ERCC4	2072	HP:0001347	Hyperreflexia
ORPHANET:84	ERCC4	2072	HP:0000581	Blepharophimosis
ORPHANET:84	ERCC4	2072	HP:0006101	Finger syndactyly
ORPHANET:84	ERCC4	2072	HP:0001824	Weight loss
ORPHANET:84	ERCC4	2072	HP:0000252	Microcephaly
ORPHANET:84	ERCC4	2072	HP:0000453	Choanal atresia
ORPHANET:84	ERCC4	2072	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	ERCC4	2072	HP:0100543	Cognitive impairment
ORPHANET:84	ERCC4	2072	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	ERCC4	2072	HP:0001882	Leukopenia
ORPHANET:84	ERCC4	2072	HP:0008572	External ear malformation
ORPHANET:84	ERCC4	2072	HP:0002245	Meckel diverticulum
ORPHANET:84	ERCC4	2072	HP:0100587	Abnormality of the preputium
ORPHANET:84	ERCC4	2072	HP:0001631	Atria septal defect
ORPHANET:84	ERCC4	2072	HP:0002007	Frontal bossing
ORPHANET:84	FANCA	2175	HP:0000083	Renal insufficiency
ORPHANET:84	FANCA	2175	HP:0000957	Cafe-au-lait spot
ORPHANET:84	FANCA	2175	HP:0001199	Triphalangeal thumb
ORPHANET:84	FANCA	2175	HP:0001562	Oligohydramnios
ORPHANET:84	FANCA	2175	HP:0000508	Ptosis
ORPHANET:84	FANCA	2175	HP:0000175	Cleft palate
ORPHANET:84	FANCA	2175	HP:0002863	Myelodysplasia
ORPHANET:84	FANCA	2175	HP:0001763	Pes planus
ORPHANET:84	FANCA	2175	HP:0000010	Recurrent urinary tract infections
ORPHANET:84	FANCA	2175	HP:0001903	Anemia
ORPHANET:84	FANCA	2175	HP:0100026	Arteriovenous malformation
ORPHANET:84	FANCA	2175	HP:0000238	Hydrocephalus
ORPHANET:84	FANCA	2175	HP:0001392	Abnormality of the liver
ORPHANET:84	FANCA	2175	HP:0000520	Proptosis
ORPHANET:84	FANCA	2175	HP:0000486	Strabismus
ORPHANET:84	FANCA	2175	HP:0100627	Displacement of the external urethral meatus
ORPHANET:84	FANCA	2175	HP:0000582	Upslanted palpebral fissure
ORPHANET:84	FANCA	2175	HP:0100589	Urogenital fistula
ORPHANET:84	FANCA	2175	HP:0000268	Dolichocephaly
ORPHANET:84	FANCA	2175	HP:0000639	Nystagmus
ORPHANET:84	FANCA	2175	HP:0100760	Clubbing of toes
ORPHANET:84	FANCA	2175	HP:0100542	Abnormal localization of kidney
ORPHANET:84	FANCA	2175	HP:0000286	Epicanthus
ORPHANET:84	FANCA	2175	HP:0002119	Ventriculomegaly
ORPHANET:84	FANCA	2175	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:84	FANCA	2175	HP:0001770	Toe syndactyly
ORPHANET:84	FANCA	2175	HP:0001646	Abnormality of the aortic valve
ORPHANET:84	FANCA	2175	HP:0004322	Short stature
ORPHANET:84	FANCA	2175	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:84	FANCA	2175	HP:0004349	Reduced bone mineral density
ORPHANET:84	FANCA	2175	HP:0001053	Hypopigmented skin patches
ORPHANET:84	FANCA	2175	HP:0001511	Intrauterine growth retardation
ORPHANET:84	FANCA	2175	HP:0002650	Scoliosis
ORPHANET:84	FANCA	2175	HP:0002414	Spina bifida
ORPHANET:84	FANCA	2175	HP:0001679	Abnormality of the aorta
ORPHANET:84	FANCA	2175	HP:0001873	Thrombocytopenia
ORPHANET:84	FANCA	2175	HP:0001537	Umbilical hernia
ORPHANET:84	FANCA	2175	HP:0002251	Aganglionic megacolon
ORPHANET:84	FANCA	2175	HP:0003272	Abnormality of the hip bone
ORPHANET:84	FANCA	2175	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHANET:84	FANCA	2175	HP:0000316	Hypertelorism
ORPHANET:84	FANCA	2175	HP:0003220	Abnormality of chromosome stability
ORPHANET:84	FANCA	2175	HP:0002823	Abnormality of the femur
ORPHANET:84	FANCA	2175	HP:0000347	Micrognathia
ORPHANET:84	FANCA	2175	HP:0000324	Facial asymmetry
ORPHANET:84	FANCA	2175	HP:0000518	Cataract
ORPHANET:84	FANCA	2175	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:84	FANCA	2175	HP:0001643	Patent ductus arteriosus
ORPHANET:84	FANCA	2175	HP:0000505	Visual impairment
ORPHANET:84	FANCA	2175	HP:0006824	Cranial nerve paralysis
ORPHANET:84	FANCA	2175	HP:0005344	Abnormality of the carotid arteries
ORPHANET:84	FANCA	2175	HP:0000028	Cryptorchidism
ORPHANET:84	FANCA	2175	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:84	FANCA	2175	HP:0002997	Abnormality of the ulna
ORPHANET:84	FANCA	2175	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:84	FANCA	2175	HP:0100867	Duodenal stenosis
ORPHANET:84	FANCA	2175	HP:0000008	Abnormality of female internal genitalia
ORPHANET:84	FANCA	2175	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:84	FANCA	2175	HP:0000483	Astigmatism
ORPHANET:84	FANCA	2175	HP:0002575	Tracheoesophageal fistula
ORPHANET:84	FANCA	2175	HP:0000340	Sloping forehead
ORPHANET:84	FANCA	2175	HP:0000365	Hearing impairment
ORPHANET:84	FANCA	2175	HP:0005528	Bone marrow hypocellularity
ORPHANET:84	FANCA	2175	HP:0001636	Tetralogy of Fallot
ORPHANET:84	FANCA	2175	HP:0001347	Hyperreflexia
ORPHANET:84	FANCA	2175	HP:0000581	Blepharophimosis
ORPHANET:84	FANCA	2175	HP:0006101	Finger syndactyly
ORPHANET:84	FANCA	2175	HP:0001824	Weight loss
ORPHANET:84	FANCA	2175	HP:0000252	Microcephaly
ORPHANET:84	FANCA	2175	HP:0000453	Choanal atresia
ORPHANET:84	FANCA	2175	HP:0007400	Irregular hyperpigmentation
ORPHANET:84	FANCA	2175	HP:0100543	Cognitive impairment
ORPHANET:84	FANCA	2175	HP:0000025	Functional abnormality of male internal genitalia
ORPHANET:84	FANCA	2175	HP:0001882	Leukopenia
ORPHANET:84	FANCA	2175	HP:0008572	External ear malformation
ORPHANET:84	FANCA	2175	HP:0002245	Meckel diverticulum
ORPHANET:84	FANCA	2175	HP:0100587	Abnormality of the preputium
ORPHANET:84	FANCA	2175	HP:0001631	Atria septal defect
ORPHANET:84	FANCA	2175	HP:0002007	Frontal bossing
ORPHANET:974	NOTCH1	4851	HP:0001798	Anonychia
ORPHANET:974	NOTCH1	4851	HP:0001541	Ascites
ORPHANET:974	NOTCH1	4851	HP:0001596	Alopecia
ORPHANET:974	NOTCH1	4851	HP:0001156	Brachydactyly syndrome
ORPHANET:974	NOTCH1	4851	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:974	NOTCH1	4851	HP:0002353	EEG abnormality
ORPHANET:974	NOTCH1	4851	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:974	NOTCH1	4851	HP:0000965	Cutis marmorata
ORPHANET:974	NOTCH1	4851	HP:0002084	Encephalocele
ORPHANET:974	NOTCH1	4851	HP:0001409	Portal hypertension
ORPHANET:974	NOTCH1	4851	HP:0000486	Strabismus
ORPHANET:974	NOTCH1	4851	HP:0100543	Cognitive impairment
ORPHANET:974	NOTCH1	4851	HP:0001622	Premature birth
ORPHANET:974	NOTCH1	4851	HP:0001883	Talipes
ORPHANET:974	NOTCH1	4851	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:974	NOTCH1	4851	HP:0001882	Leukopenia
ORPHANET:974	NOTCH1	4851	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:974	NOTCH1	4851	HP:0001250	Seizures
ORPHANET:974	NOTCH1	4851	HP:0001394	Cirrhosis
ORPHANET:974	NOTCH1	4851	HP:0006101	Finger syndactyly
ORPHANET:974	NOTCH1	4851	HP:0009882	Short distal phalanx of finger
ORPHANET:974	NOTCH1	4851	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:974	NOTCH1	4851	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:974	NOTCH1	4851	HP:0001171	Split hand
ORPHANET:974	NOTCH1	4851	HP:0001636	Tetralogy of Fallot
ORPHANET:974	NOTCH1	4851	HP:0004936	Venous thrombosis
ORPHANET:974	NOTCH1	4851	HP:0002132	Porencephaly
ORPHANET:974	NOTCH1	4851	HP:0000518	Cataract
ORPHANET:974	NOTCH1	4851	HP:0001276	Hypertonia
ORPHANET:974	NOTCH1	4851	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:974	NOTCH1	4851	HP:0000238	Hydrocephalus
ORPHANET:974	NOTCH1	4851	HP:0001873	Thrombocytopenia
ORPHANET:974	DOCK6	57572	HP:0001798	Anonychia
ORPHANET:974	DOCK6	57572	HP:0001541	Ascites
ORPHANET:974	DOCK6	57572	HP:0001596	Alopecia
ORPHANET:974	DOCK6	57572	HP:0001156	Brachydactyly syndrome
ORPHANET:974	DOCK6	57572	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:974	DOCK6	57572	HP:0002353	EEG abnormality
ORPHANET:974	DOCK6	57572	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:974	DOCK6	57572	HP:0000965	Cutis marmorata
ORPHANET:974	DOCK6	57572	HP:0002084	Encephalocele
ORPHANET:974	DOCK6	57572	HP:0001409	Portal hypertension
ORPHANET:974	DOCK6	57572	HP:0000486	Strabismus
ORPHANET:974	DOCK6	57572	HP:0100543	Cognitive impairment
ORPHANET:974	DOCK6	57572	HP:0001622	Premature birth
ORPHANET:974	DOCK6	57572	HP:0001883	Talipes
ORPHANET:974	DOCK6	57572	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:974	DOCK6	57572	HP:0001882	Leukopenia
ORPHANET:974	DOCK6	57572	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:974	DOCK6	57572	HP:0001250	Seizures
ORPHANET:974	DOCK6	57572	HP:0001394	Cirrhosis
ORPHANET:974	DOCK6	57572	HP:0006101	Finger syndactyly
ORPHANET:974	DOCK6	57572	HP:0009882	Short distal phalanx of finger
ORPHANET:974	DOCK6	57572	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:974	DOCK6	57572	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:974	DOCK6	57572	HP:0001171	Split hand
ORPHANET:974	DOCK6	57572	HP:0001636	Tetralogy of Fallot
ORPHANET:974	DOCK6	57572	HP:0004936	Venous thrombosis
ORPHANET:974	DOCK6	57572	HP:0002132	Porencephaly
ORPHANET:974	DOCK6	57572	HP:0000518	Cataract
ORPHANET:974	DOCK6	57572	HP:0001276	Hypertonia
ORPHANET:974	DOCK6	57572	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:974	DOCK6	57572	HP:0000238	Hydrocephalus
ORPHANET:974	DOCK6	57572	HP:0001873	Thrombocytopenia
ORPHANET:974	EOGT	285203	HP:0001798	Anonychia
ORPHANET:974	EOGT	285203	HP:0001541	Ascites
ORPHANET:974	EOGT	285203	HP:0001596	Alopecia
ORPHANET:974	EOGT	285203	HP:0001156	Brachydactyly syndrome
ORPHANET:974	EOGT	285203	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:974	EOGT	285203	HP:0002353	EEG abnormality
ORPHANET:974	EOGT	285203	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:974	EOGT	285203	HP:0000965	Cutis marmorata
ORPHANET:974	EOGT	285203	HP:0002084	Encephalocele
ORPHANET:974	EOGT	285203	HP:0001409	Portal hypertension
ORPHANET:974	EOGT	285203	HP:0000486	Strabismus
ORPHANET:974	EOGT	285203	HP:0100543	Cognitive impairment
ORPHANET:974	EOGT	285203	HP:0001622	Premature birth
ORPHANET:974	EOGT	285203	HP:0001883	Talipes
ORPHANET:974	EOGT	285203	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:974	EOGT	285203	HP:0001882	Leukopenia
ORPHANET:974	EOGT	285203	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:974	EOGT	285203	HP:0001250	Seizures
ORPHANET:974	EOGT	285203	HP:0001394	Cirrhosis
ORPHANET:974	EOGT	285203	HP:0006101	Finger syndactyly
ORPHANET:974	EOGT	285203	HP:0009882	Short distal phalanx of finger
ORPHANET:974	EOGT	285203	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:974	EOGT	285203	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:974	EOGT	285203	HP:0001171	Split hand
ORPHANET:974	EOGT	285203	HP:0001636	Tetralogy of Fallot
ORPHANET:974	EOGT	285203	HP:0004936	Venous thrombosis
ORPHANET:974	EOGT	285203	HP:0002132	Porencephaly
ORPHANET:974	EOGT	285203	HP:0000518	Cataract
ORPHANET:974	EOGT	285203	HP:0001276	Hypertonia
ORPHANET:974	EOGT	285203	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:974	EOGT	285203	HP:0000238	Hydrocephalus
ORPHANET:974	EOGT	285203	HP:0001873	Thrombocytopenia
ORPHANET:974	DLL4	54567	HP:0001798	Anonychia
ORPHANET:974	DLL4	54567	HP:0001541	Ascites
ORPHANET:974	DLL4	54567	HP:0001596	Alopecia
ORPHANET:974	DLL4	54567	HP:0001156	Brachydactyly syndrome
ORPHANET:974	DLL4	54567	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:974	DLL4	54567	HP:0002353	EEG abnormality
ORPHANET:974	DLL4	54567	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:974	DLL4	54567	HP:0000965	Cutis marmorata
ORPHANET:974	DLL4	54567	HP:0002084	Encephalocele
ORPHANET:974	DLL4	54567	HP:0001409	Portal hypertension
ORPHANET:974	DLL4	54567	HP:0000486	Strabismus
ORPHANET:974	DLL4	54567	HP:0100543	Cognitive impairment
ORPHANET:974	DLL4	54567	HP:0001622	Premature birth
ORPHANET:974	DLL4	54567	HP:0001883	Talipes
ORPHANET:974	DLL4	54567	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:974	DLL4	54567	HP:0001882	Leukopenia
ORPHANET:974	DLL4	54567	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:974	DLL4	54567	HP:0001250	Seizures
ORPHANET:974	DLL4	54567	HP:0001394	Cirrhosis
ORPHANET:974	DLL4	54567	HP:0006101	Finger syndactyly
ORPHANET:974	DLL4	54567	HP:0009882	Short distal phalanx of finger
ORPHANET:974	DLL4	54567	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:974	DLL4	54567	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:974	DLL4	54567	HP:0001171	Split hand
ORPHANET:974	DLL4	54567	HP:0001636	Tetralogy of Fallot
ORPHANET:974	DLL4	54567	HP:0004936	Venous thrombosis
ORPHANET:974	DLL4	54567	HP:0002132	Porencephaly
ORPHANET:974	DLL4	54567	HP:0000518	Cataract
ORPHANET:974	DLL4	54567	HP:0001276	Hypertonia
ORPHANET:974	DLL4	54567	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:974	DLL4	54567	HP:0000238	Hydrocephalus
ORPHANET:974	DLL4	54567	HP:0001873	Thrombocytopenia
ORPHANET:974	ARHGAP31	57514	HP:0001798	Anonychia
ORPHANET:974	ARHGAP31	57514	HP:0001541	Ascites
ORPHANET:974	ARHGAP31	57514	HP:0001596	Alopecia
ORPHANET:974	ARHGAP31	57514	HP:0001156	Brachydactyly syndrome
ORPHANET:974	ARHGAP31	57514	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:974	ARHGAP31	57514	HP:0002353	EEG abnormality
ORPHANET:974	ARHGAP31	57514	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:974	ARHGAP31	57514	HP:0000965	Cutis marmorata
ORPHANET:974	ARHGAP31	57514	HP:0002084	Encephalocele
ORPHANET:974	ARHGAP31	57514	HP:0001409	Portal hypertension
ORPHANET:974	ARHGAP31	57514	HP:0000486	Strabismus
ORPHANET:974	ARHGAP31	57514	HP:0100543	Cognitive impairment
ORPHANET:974	ARHGAP31	57514	HP:0001622	Premature birth
ORPHANET:974	ARHGAP31	57514	HP:0001883	Talipes
ORPHANET:974	ARHGAP31	57514	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:974	ARHGAP31	57514	HP:0001882	Leukopenia
ORPHANET:974	ARHGAP31	57514	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:974	ARHGAP31	57514	HP:0001250	Seizures
ORPHANET:974	ARHGAP31	57514	HP:0001394	Cirrhosis
ORPHANET:974	ARHGAP31	57514	HP:0006101	Finger syndactyly
ORPHANET:974	ARHGAP31	57514	HP:0009882	Short distal phalanx of finger
ORPHANET:974	ARHGAP31	57514	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:974	ARHGAP31	57514	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:974	ARHGAP31	57514	HP:0001171	Split hand
ORPHANET:974	ARHGAP31	57514	HP:0001636	Tetralogy of Fallot
ORPHANET:974	ARHGAP31	57514	HP:0004936	Venous thrombosis
ORPHANET:974	ARHGAP31	57514	HP:0002132	Porencephaly
ORPHANET:974	ARHGAP31	57514	HP:0000518	Cataract
ORPHANET:974	ARHGAP31	57514	HP:0001276	Hypertonia
ORPHANET:974	ARHGAP31	57514	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:974	ARHGAP31	57514	HP:0000238	Hydrocephalus
ORPHANET:974	ARHGAP31	57514	HP:0001873	Thrombocytopenia
ORPHANET:974	RBPJ	3516	HP:0001798	Anonychia
ORPHANET:974	RBPJ	3516	HP:0001541	Ascites
ORPHANET:974	RBPJ	3516	HP:0001596	Alopecia
ORPHANET:974	RBPJ	3516	HP:0001156	Brachydactyly syndrome
ORPHANET:974	RBPJ	3516	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:974	RBPJ	3516	HP:0002353	EEG abnormality
ORPHANET:974	RBPJ	3516	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:974	RBPJ	3516	HP:0000965	Cutis marmorata
ORPHANET:974	RBPJ	3516	HP:0002084	Encephalocele
ORPHANET:974	RBPJ	3516	HP:0001409	Portal hypertension
ORPHANET:974	RBPJ	3516	HP:0000486	Strabismus
ORPHANET:974	RBPJ	3516	HP:0100543	Cognitive impairment
ORPHANET:974	RBPJ	3516	HP:0001622	Premature birth
ORPHANET:974	RBPJ	3516	HP:0001883	Talipes
ORPHANET:974	RBPJ	3516	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:974	RBPJ	3516	HP:0001882	Leukopenia
ORPHANET:974	RBPJ	3516	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:974	RBPJ	3516	HP:0001250	Seizures
ORPHANET:974	RBPJ	3516	HP:0001394	Cirrhosis
ORPHANET:974	RBPJ	3516	HP:0006101	Finger syndactyly
ORPHANET:974	RBPJ	3516	HP:0009882	Short distal phalanx of finger
ORPHANET:974	RBPJ	3516	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:974	RBPJ	3516	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:974	RBPJ	3516	HP:0001171	Split hand
ORPHANET:974	RBPJ	3516	HP:0001636	Tetralogy of Fallot
ORPHANET:974	RBPJ	3516	HP:0004936	Venous thrombosis
ORPHANET:974	RBPJ	3516	HP:0002132	Porencephaly
ORPHANET:974	RBPJ	3516	HP:0000518	Cataract
ORPHANET:974	RBPJ	3516	HP:0001276	Hypertonia
ORPHANET:974	RBPJ	3516	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:974	RBPJ	3516	HP:0000238	Hydrocephalus
ORPHANET:974	RBPJ	3516	HP:0001873	Thrombocytopenia
OMIM:614501	SNIP1	79753	HP:0000486	Strabismus
OMIM:614501	SNIP1	79753	HP:0001250	Seizures
OMIM:614501	SNIP1	79753	HP:0000414	Bulbous nose
OMIM:614501	SNIP1	79753	HP:0001647	Bicuspid aortic valve
OMIM:614501	SNIP1	79753	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614501	SNIP1	79753	HP:0000154	Wide mouth
OMIM:614501	SNIP1	79753	HP:0001252	Muscular hypotonia
OMIM:614501	SNIP1	79753	HP:0000158	Macroglossia
OMIM:614501	SNIP1	79753	HP:0002353	EEG abnormality
OMIM:614501	SNIP1	79753	HP:0011304	Broad thumb
OMIM:614501	SNIP1	79753	HP:0011968	Feeding difficulties
OMIM:614501	SNIP1	79753	HP:0001182	Tapered finger
OMIM:614501	SNIP1	79753	HP:0001999	Abnormal facial shape
OMIM:614501	SNIP1	79753	HP:0001650	Aortic valve stenosis
OMIM:614501	SNIP1	79753	HP:0001265	Hyporeflexia
OMIM:614501	SNIP1	79753	HP:0003429	CNS hypomyelination
OMIM:614501	SNIP1	79753	HP:0004279	Short palm
OMIM:614501	SNIP1	79753	HP:0001263	Global developmental delay
OMIM:614501	SNIP1	79753	HP:0000007	Autosomal recessive inheritance
OMIM:614501	SNIP1	79753	HP:0002119	Ventriculomegaly
OMIM:307030	GK	2710	HP:0000939	Osteoporosis
OMIM:307030	GK	2710	HP:0001999	Abnormal facial shape
OMIM:307030	GK	2710	HP:0003307	Hyperlordosis
OMIM:307030	GK	2710	HP:0004349	Reduced bone mineral density
OMIM:307030	GK	2710	HP:0000316	Hypertelorism
OMIM:307030	GK	2710	HP:0001250	Seizures
OMIM:307030	GK	2710	HP:0000486	Strabismus
OMIM:307030	GK	2710	HP:0000846	Adrenal insufficiency
OMIM:307030	GK	2710	HP:0001315	Reduced tendon reflexes
OMIM:307030	GK	2710	HP:0003198	Myopathy
OMIM:307030	GK	2710	HP:0002714	Downturned corners of mouth
OMIM:307030	GK	2710	HP:0004322	Short stature
OMIM:307030	GK	2710	HP:0002155	Hypertriglyceridemia
OMIM:307030	GK	2710	HP:0001249	Intellectual disability
OMIM:307030	GK	2710	HP:0003457	EMG abnormality
OMIM:307030	GK	2710	HP:0001518	Small for gestational age
OMIM:307030	GK	2710	HP:0001942	Metabolic acidosis
OMIM:307030	GK	2710	HP:0001259	Coma
OMIM:307030	GK	2710	HP:0001263	Global developmental delay
OMIM:307030	GK	2710	HP:0001419	X-linked recessive inheritance
OMIM:307030	GK	2710	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:307030	GK	2710	HP:0002167	Neurological speech impairment
OMIM:307030	GK	2710	HP:0002007	Frontal bossing
OMIM:307030	GK	2710	HP:0001423	X-linked dominant inheritance
OMIM:307030	GK	2710	HP:0002650	Scoliosis
OMIM:307030	GK	2710	HP:0008207	Primary adrenal insufficiency
OMIM:307030	GK	2710	HP:0001252	Muscular hypotonia
OMIM:307030	GK	2710	HP:0000028	Cryptorchidism
OMIM:307030	GK	2710	HP:0001993	Ketoacidosis
OMIM:307030	GK	2710	HP:0003560	Muscular dystrophy
OMIM:307030	GK	2710	HP:0001254	Lethargy
OMIM:307030	GK	2710	HP:0002353	EEG abnormality
OMIM:307030	GK	2710	HP:0100543	Cognitive impairment
OMIM:307030	GK	2710	HP:0001943	Hypoglycemia
OMIM:307030	GK	2710	HP:0002756	Pathologic fracture
OMIM:307030	GK	2710	HP:0000369	Low-set ears
OMIM:602390	HFE2	148738	HP:0000953	Hyperpigmentation of the skin
OMIM:602390	HFE2	148738	HP:0001394	Cirrhosis
OMIM:602390	HFE2	148738	HP:0011462	Young adult onset
OMIM:602390	HFE2	148738	HP:0000007	Autosomal recessive inheritance
OMIM:602390	HFE2	148738	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:602390	HFE2	148738	HP:0001638	Cardiomyopathy
OMIM:602390	HFE2	148738	HP:0002240	Hepatomegaly
OMIM:602390	HAMP	57817	HP:0000953	Hyperpigmentation of the skin
OMIM:602390	HAMP	57817	HP:0001394	Cirrhosis
OMIM:602390	HAMP	57817	HP:0011462	Young adult onset
OMIM:602390	HAMP	57817	HP:0000007	Autosomal recessive inheritance
OMIM:602390	HAMP	57817	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:602390	HAMP	57817	HP:0001638	Cardiomyopathy
OMIM:602390	HAMP	57817	HP:0002240	Hepatomegaly
OMIM:270550	SACS	26278	HP:0001249	Intellectual disability
OMIM:270550	SACS	26278	HP:0001260	Dysarthria
OMIM:270550	SACS	26278	HP:0002936	Distal sensory impairment
OMIM:270550	SACS	26278	HP:0001310	Dysmetria
OMIM:270550	SACS	26278	HP:0002460	Distal muscle weakness
OMIM:270550	SACS	26278	HP:0000007	Autosomal recessive inheritance
OMIM:270550	SACS	26278	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:270550	SACS	26278	HP:0002527	Falls
OMIM:270550	SACS	26278	HP:0000639	Nystagmus
OMIM:270550	SACS	26278	HP:0007772	Impaired smooth pursuit
OMIM:270550	SACS	26278	HP:0003487	Babinski sign
OMIM:270550	SACS	26278	HP:0000762	Decreased nerve conduction velocity
OMIM:270550	SACS	26278	HP:0001765	Hammertoe
OMIM:270550	SACS	26278	HP:0003693	Distal amyotrophy
OMIM:270550	SACS	26278	HP:0001761	Pes cavus
OMIM:270550	SACS	26278	HP:0000012	Urinary urgency
OMIM:270550	SACS	26278	HP:0001257	Spasticity
OMIM:270550	SACS	26278	HP:0001347	Hyperreflexia
OMIM:270550	SACS	26278	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:270550	SACS	26278	HP:0003593	Infantile onset
OMIM:607039	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:607039	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:607039	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:607039	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:607039	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:607039	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:607039	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:607039	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:607039	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:607039	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:607039	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:607039	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:607039	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:607039	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:607039	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:607039	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:607039	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:607039	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:607039	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:607039	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:607039	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:607039	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:607039	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:607039	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:607039	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:607039	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:607039	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:607039	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:607039	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:607039	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:607039	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:607039	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:607039	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:607039	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:607039	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:607039	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:607039	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:607039	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:607039	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:607039	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:607039	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:607039	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:607039	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:607039	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:607039	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:607039	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:607039	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:607039	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:607039	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:607039	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:607039	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:607039	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:607039	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:607039	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:607039	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:607039	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:607039	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:607039	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:607039	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:607039	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:607039	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:607039	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:607039	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:607039	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:607039	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:607039	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:607039	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:607039	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:607039	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:607039	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:607039	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:607039	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:607039	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:607039	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:607039	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:607039	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:607039	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:607039	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:607039	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:607039	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:607039	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:607039	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:607039	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:607039	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:607039	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:607039	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:607039	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:607039	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:607039	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:607039	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:607039	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:607039	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:607039	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:607039	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:607039	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:607039	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:607039	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:607039	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:607039	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:607039	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:607039	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:607039	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:607039	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:607039	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:607039	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:607039	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:607039	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:607039	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:607039	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:607039	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:607039	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:607039	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:607039	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:607039	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:607039	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:607039	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:607039	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:607039	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:607039	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:607039	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:138040	NR3C1	2908	HP:0000006	Autosomal dominant inheritance
OMIM:138040	NR3C1	2908	HP:0000822	Hypertension
OMIM:609270	TPP1	1200	HP:0003677	Slow progression
OMIM:609270	TPP1	1200	HP:0001347	Hyperreflexia
OMIM:609270	TPP1	1200	HP:0001260	Dysarthria
OMIM:609270	TPP1	1200	HP:0000639	Nystagmus
OMIM:609270	TPP1	1200	HP:0001272	Cerebellar atrophy
OMIM:609270	TPP1	1200	HP:0001251	Ataxia
OMIM:609270	TPP1	1200	HP:0003621	Juvenile onset
OMIM:609270	TPP1	1200	HP:0002070	Limb ataxia
OMIM:609270	TPP1	1200	HP:0000007	Autosomal recessive inheritance
OMIM:609270	TPP1	1200	HP:0003487	Babinski sign
OMIM:609270	TPP1	1200	HP:0002495	Impaired vibratory sensation
OMIM:609270	TPP1	1200	HP:0002066	Gait ataxia
OMIM:614928	KRT85	3891	HP:0000007	Autosomal recessive inheritance
OMIM:614928	HOXC13	3229	HP:0000007	Autosomal recessive inheritance
OMIM:614928	KRT74	121391	HP:0000007	Autosomal recessive inheritance
OMIM:601068	CNTN2	6900	HP:0002123	Generalized myoclonic seizures
OMIM:601068	CNTN2	6900	HP:0000006	Autosomal dominant inheritance
OMIM:601068	CNTN2	6900	HP:0001337	Tremor
OMIM:601068	CNTN2	6900	HP:0002069	Generalized tonic-clonic seizures
OMIM:601068	CNTN2	6900	HP:0003680	Nonprogressive
OMIM:601068	CNTN2	6900	HP:0001249	Intellectual disability
OMIM:601068	CNTN2	6900	HP:0003581	Adult onset
OMIM:601068	ADRA2B	151	HP:0002123	Generalized myoclonic seizures
OMIM:601068	ADRA2B	151	HP:0000006	Autosomal dominant inheritance
OMIM:601068	ADRA2B	151	HP:0001337	Tremor
OMIM:601068	ADRA2B	151	HP:0002069	Generalized tonic-clonic seizures
OMIM:601068	ADRA2B	151	HP:0003680	Nonprogressive
OMIM:601068	ADRA2B	151	HP:0001249	Intellectual disability
OMIM:601068	ADRA2B	151	HP:0003581	Adult onset
ORPHANET:2908	FERMT1	55612	HP:0000704	Periodontitis
ORPHANET:2908	FERMT1	55612	HP:0006101	Finger syndactyly
ORPHANET:2908	FERMT1	55612	HP:0001000	Abnormality of skin pigmentation
ORPHANET:2908	FERMT1	55612	HP:0000230	Gingivitis
ORPHANET:2908	FERMT1	55612	HP:0002037	Inflammation of the large intestine
ORPHANET:2908	FERMT1	55612	HP:0100587	Abnormality of the preputium
ORPHANET:2908	FERMT1	55612	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:2908	FERMT1	55612	HP:0000670	Carious teeth
ORPHANET:2908	FERMT1	55612	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:2908	FERMT1	55612	HP:0008069	Neoplasm of the skin
ORPHANET:2908	FERMT1	55612	HP:0000982	Palmoplantar keratoderma
ORPHANET:2908	FERMT1	55612	HP:0001903	Anemia
ORPHANET:2908	FERMT1	55612	HP:0000958	Dry skin
ORPHANET:2908	FERMT1	55612	HP:0008872	Feeding difficulties in infancy
ORPHANET:2908	FERMT1	55612	HP:0008388	Abnormality of the toenails
ORPHANET:2908	FERMT1	55612	HP:0200042	Skin ulcer
ORPHANET:2908	FERMT1	55612	HP:0007759	Opacification of the corneal stroma
ORPHANET:2908	FERMT1	55612	HP:0004295	Abnormality of the gastric mucosa
ORPHANET:2908	FERMT1	55612	HP:0000992	Cutaneous photosensitivity
ORPHANET:2908	FERMT1	55612	HP:0002648	Abnormality of calvarial morphology
ORPHANET:2908	FERMT1	55612	HP:0100490	Camptodactyly of finger
ORPHANET:2908	FERMT1	55612	HP:0000492	Abnormality of the eyelid
ORPHANET:2908	FERMT1	55612	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:2908	FERMT1	55612	HP:0000987	Atypical scarring of skin
ORPHANET:2908	FERMT1	55612	HP:0002575	Tracheoesophageal fistula
ORPHANET:2908	FERMT1	55612	HP:0000772	Abnormality of the ribs
ORPHANET:2908	FERMT1	55612	HP:0000795	Abnormality of the urethra
ORPHANET:2908	FERMT1	55612	HP:0000682	Abnormality of dental enamel
ORPHANET:2908	FERMT1	55612	HP:0010786	Urinary tract neoplasm
ORPHANET:2908	FERMT1	55612	HP:0001600	Abnormality of the larynx
OMIM:270420	SPINT2	10653	HP:0000369	Low-set ears
OMIM:270420	SPINT2	10653	HP:0000316	Hypertelorism
OMIM:270420	SPINT2	10653	HP:0000073	Ureteral duplication
OMIM:270420	SPINT2	10653	HP:0000007	Autosomal recessive inheritance
OMIM:270420	SPINT2	10653	HP:0002566	Intestinal malrotation
OMIM:270420	SPINT2	10653	HP:0000256	Macrocephaly
OMIM:270420	SPINT2	10653	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:270420	SPINT2	10653	HP:0002023	Anal atresia
OMIM:270420	SPINT2	10653	HP:0000143	Rectovaginal fistula
OMIM:270420	SPINT2	10653	HP:0000453	Choanal atresia
OMIM:270420	SPINT2	10653	HP:0000588	Optic nerve coloboma
OMIM:270420	SPINT2	10653	HP:0003270	Abdominal distention
OMIM:270420	SPINT2	10653	HP:0001561	Polyhydramnios
OMIM:604326	PPP2R2B	5521	HP:0001300	Parkinsonism
OMIM:604326	PPP2R2B	5521	HP:0001272	Cerebellar atrophy
OMIM:604326	PPP2R2B	5521	HP:0007141	Sensorimotor neuropathy
OMIM:604326	PPP2R2B	5521	HP:0000716	Depression
OMIM:604326	PPP2R2B	5521	HP:0001347	Hyperreflexia
OMIM:604326	PPP2R2B	5521	HP:0000006	Autosomal dominant inheritance
OMIM:604326	PPP2R2B	5521	HP:0002075	Dysdiadochokinesis
OMIM:604326	PPP2R2B	5521	HP:0000496	Abnormality of eye movement
OMIM:604326	PPP2R2B	5521	HP:0000726	Dementia
OMIM:604326	PPP2R2B	5521	HP:0000739	Anxiety
OMIM:604326	PPP2R2B	5521	HP:0002120	Cerebral cortical atrophy
OMIM:604326	PPP2R2B	5521	HP:0000746	Delusions
OMIM:604326	PPP2R2B	5521	HP:0001260	Dysarthria
OMIM:604326	PPP2R2B	5521	HP:0001310	Dysmetria
OMIM:608224	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:608224	DIAPH1	1729	HP:0000360	Tinnitus
OMIM:608224	DIAPH1	1729	HP:0000365	Hearing impairment
OMIM:608224	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:608224	CEACAM16	388551	HP:0000360	Tinnitus
OMIM:608224	CEACAM16	388551	HP:0000365	Hearing impairment
OMIM:608224	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:608224	SLC17A8	246213	HP:0000360	Tinnitus
OMIM:608224	SLC17A8	246213	HP:0000365	Hearing impairment
OMIM:608224	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:608224	TJP2	9414	HP:0000360	Tinnitus
OMIM:608224	TJP2	9414	HP:0000365	Hearing impairment
OMIM:608224	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:608224	ACTG1	71	HP:0000360	Tinnitus
OMIM:608224	ACTG1	71	HP:0000365	Hearing impairment
OMIM:608224	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:608224	CCDC50	152137	HP:0000360	Tinnitus
OMIM:608224	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:608224	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:608224	MIR96	407053	HP:0000360	Tinnitus
OMIM:608224	MIR96	407053	HP:0000365	Hearing impairment
OMIM:608224	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:608224	GJB2	2706	HP:0000360	Tinnitus
OMIM:608224	GJB2	2706	HP:0000365	Hearing impairment
OMIM:608224	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:608224	POU4F3	5459	HP:0000360	Tinnitus
OMIM:608224	POU4F3	5459	HP:0000365	Hearing impairment
OMIM:608224	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:608224	GJB3	2707	HP:0000360	Tinnitus
OMIM:608224	GJB3	2707	HP:0000365	Hearing impairment
OMIM:608224	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:608224	MYH9	4627	HP:0000360	Tinnitus
OMIM:608224	MYH9	4627	HP:0000365	Hearing impairment
OMIM:608224	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:608224	CRYM	1428	HP:0000360	Tinnitus
OMIM:608224	CRYM	1428	HP:0000365	Hearing impairment
OMIM:608224	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:608224	COL11A2	1302	HP:0000360	Tinnitus
OMIM:608224	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:608224	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:608224	EYA4	2070	HP:0000360	Tinnitus
OMIM:608224	EYA4	2070	HP:0000365	Hearing impairment
OMIM:608224	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:608224	DFNA5	1687	HP:0000360	Tinnitus
OMIM:608224	DFNA5	1687	HP:0000365	Hearing impairment
OMIM:608224	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:608224	DIAPH3	81624	HP:0000360	Tinnitus
OMIM:608224	DIAPH3	81624	HP:0000365	Hearing impairment
OMIM:608224	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:608224	TMC1	117531	HP:0000360	Tinnitus
OMIM:608224	TMC1	117531	HP:0000365	Hearing impairment
OMIM:608224	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:608224	COCH	1690	HP:0000360	Tinnitus
OMIM:608224	COCH	1690	HP:0000365	Hearing impairment
OMIM:608224	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:608224	OSBPL2	9885	HP:0000360	Tinnitus
OMIM:608224	OSBPL2	9885	HP:0000365	Hearing impairment
OMIM:608224	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:608224	SIX1	6495	HP:0000360	Tinnitus
OMIM:608224	SIX1	6495	HP:0000365	Hearing impairment
OMIM:608224	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:608224	TECTA	7007	HP:0000360	Tinnitus
OMIM:608224	TECTA	7007	HP:0000365	Hearing impairment
OMIM:608224	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:608224	MYO1A	4640	HP:0000360	Tinnitus
OMIM:608224	MYO1A	4640	HP:0000365	Hearing impairment
OMIM:608224	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:608224	MYO1C	4641	HP:0000360	Tinnitus
OMIM:608224	MYO1C	4641	HP:0000365	Hearing impairment
OMIM:608224	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:608224	MYO6	4646	HP:0000360	Tinnitus
OMIM:608224	MYO6	4646	HP:0000365	Hearing impairment
OMIM:608224	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:608224	MYO7A	4647	HP:0000360	Tinnitus
OMIM:608224	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:608224	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:608224	GRHL2	79977	HP:0000360	Tinnitus
OMIM:608224	GRHL2	79977	HP:0000365	Hearing impairment
OMIM:608224	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:608224	DIABLO	56616	HP:0000360	Tinnitus
OMIM:608224	DIABLO	56616	HP:0000365	Hearing impairment
OMIM:608224	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:608224	P2RX2	22953	HP:0000360	Tinnitus
OMIM:608224	P2RX2	22953	HP:0000365	Hearing impairment
OMIM:608224	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:608224	MYH14	79784	HP:0000360	Tinnitus
OMIM:608224	MYH14	79784	HP:0000365	Hearing impairment
OMIM:608224	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:608224	WFS1	7466	HP:0000360	Tinnitus
OMIM:608224	WFS1	7466	HP:0000365	Hearing impairment
OMIM:608224	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:608224	TNC	3371	HP:0000360	Tinnitus
OMIM:608224	TNC	3371	HP:0000365	Hearing impairment
OMIM:608224	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:608224	KCNQ4	9132	HP:0000360	Tinnitus
OMIM:608224	KCNQ4	9132	HP:0000365	Hearing impairment
OMIM:608224	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:608224	HOMER2	9455	HP:0000360	Tinnitus
OMIM:608224	HOMER2	9455	HP:0000365	Hearing impairment
OMIM:608224	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:608224	GJB6	10804	HP:0000360	Tinnitus
OMIM:608224	GJB6	10804	HP:0000365	Hearing impairment
OMIM:608224	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:608224	TBC1D24	57465	HP:0000360	Tinnitus
OMIM:608224	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:185300	GNAQ	2776	HP:0000505	Visual impairment
OMIM:185300	GNAQ	2776	HP:0000612	Iris coloboma
OMIM:185300	GNAQ	2776	HP:0002167	Neurological speech impairment
OMIM:185300	GNAQ	2776	HP:0000501	Glaucoma
OMIM:185300	GNAQ	2776	HP:0000212	Gingival overgrowth
OMIM:185300	GNAQ	2776	HP:0003745	Sporadic
OMIM:185300	GNAQ	2776	HP:0000541	Retinal detachment
OMIM:185300	GNAQ	2776	HP:0002120	Cerebral cortical atrophy
OMIM:185300	GNAQ	2776	HP:0002308	Arnold-Chiari malformation
OMIM:185300	GNAQ	2776	HP:0000648	Optic atrophy
OMIM:185300	GNAQ	2776	HP:0100543	Cognitive impairment
OMIM:185300	GNAQ	2776	HP:0000717	Autism
OMIM:185300	GNAQ	2776	HP:0007018	Attention deficit hyperactivity disorder
OMIM:185300	GNAQ	2776	HP:0000364	Hearing abnormality
OMIM:185300	GNAQ	2776	HP:0000256	Macrocephaly
OMIM:185300	GNAQ	2776	HP:0008872	Feeding difficulties in infancy
OMIM:185300	GNAQ	2776	HP:0008046	Abnormality of the retinal vasculature
OMIM:185300	GNAQ	2776	HP:0000238	Hydrocephalus
OMIM:185300	GNAQ	2776	HP:0001100	Heterochromia iridis
OMIM:185300	GNAQ	2776	HP:0001347	Hyperreflexia
OMIM:185300	GNAQ	2776	HP:0002637	Cerebral ischemia
OMIM:185300	GNAQ	2776	HP:0000557	Buphthalmos
OMIM:185300	GNAQ	2776	HP:0001131	Corneal dystrophy
OMIM:185300	GNAQ	2776	HP:0001249	Intellectual disability
OMIM:185300	GNAQ	2776	HP:0001139	Choroideremia
OMIM:185300	GNAQ	2776	HP:0001250	Seizures
OMIM:185300	GNAQ	2776	HP:0002514	Cerebral calcification
OMIM:610768	DOLK	22845	HP:0000535	Sparse eyebrow
OMIM:610768	DOLK	22845	HP:0002910	Elevated hepatic transaminases
OMIM:610768	DOLK	22845	HP:0001508	Failure to thrive
OMIM:610768	DOLK	22845	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:610768	DOLK	22845	HP:0002120	Cerebral cortical atrophy
OMIM:610768	DOLK	22845	HP:0008064	Ichthyosis
OMIM:610768	DOLK	22845	HP:0001928	Abnormality of coagulation
OMIM:610768	DOLK	22845	HP:0000653	Sparse eyelashes
OMIM:610768	DOLK	22845	HP:0001522	Death in infancy
OMIM:610768	DOLK	22845	HP:0002521	Hypsarrhythmia
OMIM:610768	DOLK	22845	HP:0001250	Seizures
OMIM:610768	DOLK	22845	HP:0100578	Lipoatrophy
OMIM:610768	DOLK	22845	HP:0000958	Dry skin
OMIM:610768	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:610768	DOLK	22845	HP:0001252	Muscular hypotonia
OMIM:610768	DOLK	22845	HP:0001744	Splenomegaly
OMIM:610768	DOLK	22845	HP:0000007	Autosomal recessive inheritance
OMIM:610768	DOLK	22845	HP:0005484	Postnatal microcephaly
OMIM:610768	DOLK	22845	HP:0003326	Myalgia
OMIM:610768	DOLK	22845	HP:0002240	Hepatomegaly
OMIM:610768	DOLK	22845	HP:0100543	Cognitive impairment
OMIM:615974	MSRB3	253827	HP:0012715	Profound hearing impairment
OMIM:615974	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:615974	BSND	7809	HP:0012715	Profound hearing impairment
OMIM:615974	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:615974	ESPN	83715	HP:0012715	Profound hearing impairment
OMIM:615974	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:615974	DFNB31	25861	HP:0012715	Profound hearing impairment
OMIM:615974	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:615974	OTOA	146183	HP:0012715	Profound hearing impairment
OMIM:615974	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:615974	GJA1	2697	HP:0012715	Profound hearing impairment
OMIM:615974	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:615974	MET	4233	HP:0012715	Profound hearing impairment
OMIM:615974	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:615974	CLDN14	23562	HP:0012715	Profound hearing impairment
OMIM:615974	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:615974	HGF	3082	HP:0012715	Profound hearing impairment
OMIM:615974	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:615974	EPS8	2059	HP:0012715	Profound hearing impairment
OMIM:615974	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:615974	PNPT1	87178	HP:0012715	Profound hearing impairment
OMIM:615974	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:615974	MYO3A	53904	HP:0012715	Profound hearing impairment
OMIM:615974	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:615974	DCDC2	51473	HP:0012715	Profound hearing impairment
OMIM:615974	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:615974	GJB2	2706	HP:0012715	Profound hearing impairment
OMIM:615974	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:615974	GJB3	2707	HP:0012715	Profound hearing impairment
OMIM:615974	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:615974	CABP2	51475	HP:0012715	Profound hearing impairment
OMIM:615974	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:615974	GRXCR2	643226	HP:0012715	Profound hearing impairment
OMIM:615974	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:615974	SERPINB6	5269	HP:0012715	Profound hearing impairment
OMIM:615974	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:615974	COL11A2	1302	HP:0012715	Profound hearing impairment
OMIM:615974	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:615974	CIB2	10518	HP:0012715	Profound hearing impairment
OMIM:615974	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:615974	FAM65B	9750	HP:0012715	Profound hearing impairment
OMIM:615974	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:615974	KARS	3735	HP:0012715	Profound hearing impairment
OMIM:615974	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:615974	LOXHD1	125336	HP:0012715	Profound hearing impairment
OMIM:615974	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:615974	TMC1	117531	HP:0012715	Profound hearing impairment
OMIM:615974	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:615974	CLIC5	53405	HP:0012715	Profound hearing impairment
OMIM:615974	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:615974	OTOF	9381	HP:0012715	Profound hearing impairment
OMIM:615974	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:615974	MYO6	4646	HP:0012715	Profound hearing impairment
OMIM:615974	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:615974	TMIE	259236	HP:0012715	Profound hearing impairment
OMIM:615974	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:615974	MYO7A	4647	HP:0012715	Profound hearing impairment
OMIM:615974	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:615974	LRTOMT	220074	HP:0012715	Profound hearing impairment
OMIM:615974	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:615974	OTOGL	283310	HP:0012715	Profound hearing impairment
OMIM:615974	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:615974	TPRN	286262	HP:0012715	Profound hearing impairment
OMIM:615974	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:615974	SLC26A4	5172	HP:0012715	Profound hearing impairment
OMIM:615974	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:615974	GJB6	10804	HP:0012715	Profound hearing impairment
OMIM:615974	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:615974	DFNB59	494513	HP:0012715	Profound hearing impairment
OMIM:615974	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:615974	ESRRB	2103	HP:0012715	Profound hearing impairment
OMIM:615974	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:615974	TMPRSS3	64699	HP:0012715	Profound hearing impairment
OMIM:615974	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:615974	PTPRQ	374462	HP:0012715	Profound hearing impairment
OMIM:615974	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:615974	SLC26A5	375611	HP:0012715	Profound hearing impairment
OMIM:615974	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:615974	PCDH15	65217	HP:0012715	Profound hearing impairment
OMIM:615974	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:615974	TSPEAR	54084	HP:0012715	Profound hearing impairment
OMIM:615974	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:615974	LHFPL5	222662	HP:0012715	Profound hearing impairment
OMIM:615974	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:615974	TRIOBP	11078	HP:0012715	Profound hearing impairment
OMIM:615974	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:615974	CDH23	64072	HP:0012715	Profound hearing impairment
OMIM:615974	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:615974	RDX	5962	HP:0012715	Profound hearing impairment
OMIM:615974	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:615974	GPSM2	29899	HP:0012715	Profound hearing impairment
OMIM:615974	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:615974	ELMOD3	84173	HP:0012715	Profound hearing impairment
OMIM:615974	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:615974	ILDR1	286676	HP:0012715	Profound hearing impairment
OMIM:615974	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:615974	GRXCR1	389207	HP:0012715	Profound hearing impairment
OMIM:615974	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:615974	MARVELD2	153562	HP:0012715	Profound hearing impairment
OMIM:615974	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:615974	STRC	161497	HP:0012715	Profound hearing impairment
OMIM:615974	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:615974	SLITRK6	84189	HP:0012715	Profound hearing impairment
OMIM:615974	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:615974	TECTA	7007	HP:0012715	Profound hearing impairment
OMIM:615974	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:615974	MYO15A	51168	HP:0012715	Profound hearing impairment
OMIM:615974	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:615974	USH1C	10083	HP:0012715	Profound hearing impairment
OMIM:615974	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:615974	ADCY1	107	HP:0012715	Profound hearing impairment
OMIM:615974	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:615974	SYNE4	163183	HP:0012715	Profound hearing impairment
OMIM:615974	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:615974	GIPC3	126326	HP:0012715	Profound hearing impairment
OMIM:615974	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:615974	TBC1D24	57465	HP:0012715	Profound hearing impairment
OMIM:615974	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:615974	OTOG	340990	HP:0012715	Profound hearing impairment
OMIM:615974	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:241850	FOXE1	2304	HP:0001561	Polyhydramnios
OMIM:241850	FOXE1	2304	HP:0100543	Cognitive impairment
OMIM:241850	FOXE1	2304	HP:0000007	Autosomal recessive inheritance
OMIM:241850	FOXE1	2304	HP:0003777	Pili torti
OMIM:241850	FOXE1	2304	HP:0000202	Oral cleft
OMIM:241850	FOXE1	2304	HP:0000821	Hypothyroidism
OMIM:241850	FOXE1	2304	HP:0000347	Micrognathia
OMIM:241850	FOXE1	2304	HP:0011362	Abnormal hair quantity
OMIM:241850	FOXE1	2304	HP:0000453	Choanal atresia
OMIM:241850	FOXE1	2304	HP:0000175	Cleft palate
OMIM:258100	SAG	6295	HP:0012047	Hemeralopia
OMIM:258100	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:258100	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:258100	GRK1	6011	HP:0012047	Hemeralopia
OMIM:258100	GRK1	6011	HP:0000007	Autosomal recessive inheritance
OMIM:258100	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:611953	CST3	1471	HP:0010982	Polygenic inheritance
OMIM:615802	PGAP1	80055	HP:0001250	Seizures
OMIM:615802	PGAP1	80055	HP:0001319	Neonatal hypotonia
OMIM:615802	PGAP1	80055	HP:0000400	Macrotia
OMIM:615802	PGAP1	80055	HP:0001249	Intellectual disability
OMIM:615802	PGAP1	80055	HP:0001263	Global developmental delay
OMIM:615802	PGAP1	80055	HP:0002059	Cerebral atrophy
OMIM:277300	MESP2	145873	HP:0000470	Short neck
OMIM:277300	MESP2	145873	HP:0000007	Autosomal recessive inheritance
OMIM:277300	MESP2	145873	HP:0002205	Recurrent respiratory infections
OMIM:277300	MESP2	145873	HP:0002937	Hemivertebrae
OMIM:277300	MESP2	145873	HP:0003310	Abnormality of the odontoid process
OMIM:277300	MESP2	145873	HP:0003510	Severe short stature
OMIM:277300	MESP2	145873	HP:0003521	Disproportionate short-trunk short stature
OMIM:277300	MESP2	145873	HP:0001522	Death in infancy
OMIM:277300	LFNG	3955	HP:0000470	Short neck
OMIM:277300	LFNG	3955	HP:0000007	Autosomal recessive inheritance
OMIM:277300	LFNG	3955	HP:0002205	Recurrent respiratory infections
OMIM:277300	LFNG	3955	HP:0002937	Hemivertebrae
OMIM:277300	LFNG	3955	HP:0003310	Abnormality of the odontoid process
OMIM:277300	LFNG	3955	HP:0003510	Severe short stature
OMIM:277300	LFNG	3955	HP:0003521	Disproportionate short-trunk short stature
OMIM:277300	LFNG	3955	HP:0001522	Death in infancy
OMIM:277300	HES7	84667	HP:0000470	Short neck
OMIM:277300	HES7	84667	HP:0000007	Autosomal recessive inheritance
OMIM:277300	HES7	84667	HP:0002205	Recurrent respiratory infections
OMIM:277300	HES7	84667	HP:0002937	Hemivertebrae
OMIM:277300	HES7	84667	HP:0003310	Abnormality of the odontoid process
OMIM:277300	HES7	84667	HP:0003510	Severe short stature
OMIM:277300	HES7	84667	HP:0003521	Disproportionate short-trunk short stature
OMIM:277300	HES7	84667	HP:0001522	Death in infancy
OMIM:277300	DLL3	10683	HP:0000470	Short neck
OMIM:277300	DLL3	10683	HP:0000007	Autosomal recessive inheritance
OMIM:277300	DLL3	10683	HP:0002205	Recurrent respiratory infections
OMIM:277300	DLL3	10683	HP:0002937	Hemivertebrae
OMIM:277300	DLL3	10683	HP:0003310	Abnormality of the odontoid process
OMIM:277300	DLL3	10683	HP:0003510	Severe short stature
OMIM:277300	DLL3	10683	HP:0003521	Disproportionate short-trunk short stature
OMIM:277300	DLL3	10683	HP:0001522	Death in infancy
OMIM:277300	RIPPLY2	134701	HP:0000470	Short neck
OMIM:277300	RIPPLY2	134701	HP:0000007	Autosomal recessive inheritance
OMIM:277300	RIPPLY2	134701	HP:0002205	Recurrent respiratory infections
OMIM:277300	RIPPLY2	134701	HP:0002937	Hemivertebrae
OMIM:277300	RIPPLY2	134701	HP:0003310	Abnormality of the odontoid process
OMIM:277300	RIPPLY2	134701	HP:0003510	Severe short stature
OMIM:277300	RIPPLY2	134701	HP:0003521	Disproportionate short-trunk short stature
OMIM:277300	RIPPLY2	134701	HP:0001522	Death in infancy
OMIM:601214	JUP	3728	HP:0000007	Autosomal recessive inheritance
OMIM:601214	JUP	3728	HP:0002224	Woolly hair
OMIM:601214	JUP	3728	HP:0001644	Dilated cardiomyopathy
OMIM:601214	JUP	3728	HP:0002212	Curly hair
OMIM:601214	JUP	3728	HP:0000956	Acanthosis nigricans
OMIM:601214	JUP	3728	HP:0002321	Vertigo
OMIM:601214	JUP	3728	HP:0001640	Cardiomegaly
OMIM:601214	JUP	3728	HP:0000975	Hyperhidrosis
OMIM:601214	JUP	3728	HP:0001645	Sudden cardiac death
OMIM:601214	JUP	3728	HP:0001699	Sudden death
OMIM:601214	JUP	3728	HP:0001806	Onycholysis
OMIM:601214	JUP	3728	HP:0008404	Nail dystrophy
OMIM:601214	JUP	3728	HP:0000204	Cleft upper lip
OMIM:601214	JUP	3728	HP:0001635	Congestive heart failure
OMIM:601214	JUP	3728	HP:0001030	Fragile skin
OMIM:601214	JUP	3728	HP:0011362	Abnormal hair quantity
OMIM:601214	JUP	3728	HP:0001639	Hypertrophic cardiomyopathy
OMIM:601214	JUP	3728	HP:0000535	Sparse eyebrow
OMIM:601214	JUP	3728	HP:0000982	Palmoplantar keratoderma
OMIM:300853	MAGT1	84061	HP:0004429	Recurrent viral infections
OMIM:300853	MAGT1	84061	HP:0002665	Lymphoma
OMIM:300853	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300853	MAGT1	84061	HP:0002721	Immunodeficiency
OMIM:300853	MAGT1	84061	HP:0005407	Decreased number of CD4+ T cells
OMIM:601198	CASR	846	HP:0002135	Basal ganglia calcification
OMIM:601198	CASR	846	HP:0001250	Seizures
OMIM:601198	CASR	846	HP:0002150	Hypercalciuria
OMIM:601198	CASR	846	HP:0003401	Paresthesia
OMIM:601198	CASR	846	HP:0003394	Muscle cramps
OMIM:601198	CASR	846	HP:0000006	Autosomal dominant inheritance
OMIM:601198	CASR	846	HP:0000787	Nephrolithiasis
OMIM:601198	CASR	846	HP:0012211	Abnormal renal physiology
OMIM:601198	CASR	846	HP:0000121	Nephrocalcinosis
OMIM:601198	CASR	846	HP:0004322	Short stature
OMIM:601198	CASR	846	HP:0002901	Hypocalcemia
OMIM:601198	CASR	846	HP:0001281	Tetany
OMIM:601198	GNA11	2767	HP:0002135	Basal ganglia calcification
OMIM:601198	GNA11	2767	HP:0001250	Seizures
OMIM:601198	GNA11	2767	HP:0002150	Hypercalciuria
OMIM:601198	GNA11	2767	HP:0003401	Paresthesia
OMIM:601198	GNA11	2767	HP:0003394	Muscle cramps
OMIM:601198	GNA11	2767	HP:0000006	Autosomal dominant inheritance
OMIM:601198	GNA11	2767	HP:0000787	Nephrolithiasis
OMIM:601198	GNA11	2767	HP:0012211	Abnormal renal physiology
OMIM:601198	GNA11	2767	HP:0000121	Nephrocalcinosis
OMIM:601198	GNA11	2767	HP:0004322	Short stature
OMIM:601198	GNA11	2767	HP:0002901	Hypocalcemia
OMIM:601198	GNA11	2767	HP:0001281	Tetany
OMIM:600001	GATA6	2627	HP:0003074	Hyperglycemia
OMIM:600001	GATA6	2627	HP:0000819	Diabetes mellitus
OMIM:600001	GATA6	2627	HP:0001250	Seizures
OMIM:600001	GATA6	2627	HP:0005912	Biliary atresia
OMIM:600001	GATA6	2627	HP:0001511	Intrauterine growth retardation
OMIM:600001	GATA6	2627	HP:0000023	Inguinal hernia
OMIM:600001	GATA6	2627	HP:0011611	Interrupted aortic arch
OMIM:600001	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:600001	GATA6	2627	HP:0001636	Tetralogy of Fallot
OMIM:600001	GATA6	2627	HP:0001508	Failure to thrive
OMIM:600001	GATA6	2627	HP:0001643	Patent ductus arteriosus
OMIM:600001	GATA6	2627	HP:0011682	Perimembranous ventricular septal defect
OMIM:600001	GATA6	2627	HP:0000073	Ureteral duplication
OMIM:600001	GATA6	2627	HP:0000252	Microcephaly
OMIM:600001	GATA6	2627	HP:0001642	Pulmonic stenosis
OMIM:600001	GATA6	2627	HP:0002566	Intestinal malrotation
OMIM:600001	GATA6	2627	HP:0001537	Umbilical hernia
OMIM:600001	GATA6	2627	HP:0001655	Patent foramen ovale
OMIM:600001	GATA6	2627	HP:0000776	Congenital diaphragmatic hernia
OMIM:600001	GATA6	2627	HP:0001263	Global developmental delay
OMIM:600001	GATA6	2627	HP:0001669	Transposition of the great arteries
OMIM:600001	GATA6	2627	HP:0001660	Truncus arteriosus
ORPHANET:2301	CLMP	79827	HP:0100578	Lipoatrophy
ORPHANET:2301	CLMP	79827	HP:0004322	Short stature
ORPHANET:2301	CLMP	79827	HP:0002566	Intestinal malrotation
ORPHANET:2301	CLMP	79827	HP:0011362	Abnormal hair quantity
ORPHANET:2301	CLMP	79827	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2301	CLMP	79827	HP:0100543	Cognitive impairment
ORPHANET:2301	FLNA	2316	HP:0100578	Lipoatrophy
ORPHANET:2301	FLNA	2316	HP:0004322	Short stature
ORPHANET:2301	FLNA	2316	HP:0002566	Intestinal malrotation
ORPHANET:2301	FLNA	2316	HP:0011362	Abnormal hair quantity
ORPHANET:2301	FLNA	2316	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2301	FLNA	2316	HP:0100543	Cognitive impairment
OMIM:604187	KIF5A	3798	HP:0001258	Spastic paraplegia
OMIM:604187	KIF5A	3798	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:604187	KIF5A	3798	HP:0002936	Distal sensory impairment
OMIM:604187	KIF5A	3798	HP:0002064	Spastic gait
OMIM:604187	KIF5A	3798	HP:0011449	Knee clonus
OMIM:604187	KIF5A	3798	HP:0001251	Ataxia
OMIM:604187	KIF5A	3798	HP:0001300	Parkinsonism
OMIM:604187	KIF5A	3798	HP:0003676	Progressive
OMIM:604187	KIF5A	3798	HP:0000012	Urinary urgency
OMIM:604187	KIF5A	3798	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:604187	KIF5A	3798	HP:0000020	Urinary incontinence
OMIM:604187	KIF5A	3798	HP:0000006	Autosomal dominant inheritance
OMIM:604187	KIF5A	3798	HP:0001347	Hyperreflexia
OMIM:604187	KIF5A	3798	HP:0001761	Pes cavus
OMIM:604187	KIF5A	3798	HP:0002650	Scoliosis
OMIM:604187	KIF5A	3798	HP:0003812	Phenotypic variability
OMIM:604187	KIF5A	3798	HP:0003487	Babinski sign
OMIM:604187	KIF5A	3798	HP:0011448	Ankle clonus
OMIM:604187	KIF5A	3798	HP:0007340	Lower limb muscle weakness
OMIM:615981	MKKS	8195	HP:0000546	Retinal degeneration
OMIM:615981	MKKS	8195	HP:0001249	Intellectual disability
OMIM:615981	MKKS	8195	HP:0001644	Dilated cardiomyopathy
OMIM:615981	MKKS	8195	HP:0001162	Postaxial hand polydactyly
OMIM:615981	MKKS	8195	HP:0001631	Atria septal defect
OMIM:615981	MKKS	8195	HP:0001263	Global developmental delay
OMIM:615981	MKKS	8195	HP:0001647	Bicuspid aortic valve
OMIM:615981	MKKS	8195	HP:0003241	External genital hypoplasia
OMIM:615981	MKKS	8195	HP:0001513	Obesity
OMIM:615981	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615981	MKKS	8195	HP:0000135	Hypogonadism
OMIM:615981	NPHP1	4867	HP:0000546	Retinal degeneration
OMIM:615981	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:615981	NPHP1	4867	HP:0001644	Dilated cardiomyopathy
OMIM:615981	NPHP1	4867	HP:0001162	Postaxial hand polydactyly
OMIM:615981	NPHP1	4867	HP:0001631	Atria septal defect
OMIM:615981	NPHP1	4867	HP:0001263	Global developmental delay
OMIM:615981	NPHP1	4867	HP:0001647	Bicuspid aortic valve
OMIM:615981	NPHP1	4867	HP:0003241	External genital hypoplasia
OMIM:615981	NPHP1	4867	HP:0001513	Obesity
OMIM:615981	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615981	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:615981	BBIP1	92482	HP:0000546	Retinal degeneration
OMIM:615981	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:615981	BBIP1	92482	HP:0001644	Dilated cardiomyopathy
OMIM:615981	BBIP1	92482	HP:0001162	Postaxial hand polydactyly
OMIM:615981	BBIP1	92482	HP:0001631	Atria septal defect
OMIM:615981	BBIP1	92482	HP:0001263	Global developmental delay
OMIM:615981	BBIP1	92482	HP:0001647	Bicuspid aortic valve
OMIM:615981	BBIP1	92482	HP:0003241	External genital hypoplasia
OMIM:615981	BBIP1	92482	HP:0001513	Obesity
OMIM:615981	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615981	BBIP1	92482	HP:0000135	Hypogonadism
OMIM:615981	ARL6	84100	HP:0000546	Retinal degeneration
OMIM:615981	ARL6	84100	HP:0001249	Intellectual disability
OMIM:615981	ARL6	84100	HP:0001644	Dilated cardiomyopathy
OMIM:615981	ARL6	84100	HP:0001162	Postaxial hand polydactyly
OMIM:615981	ARL6	84100	HP:0001631	Atria septal defect
OMIM:615981	ARL6	84100	HP:0001263	Global developmental delay
OMIM:615981	ARL6	84100	HP:0001647	Bicuspid aortic valve
OMIM:615981	ARL6	84100	HP:0003241	External genital hypoplasia
OMIM:615981	ARL6	84100	HP:0001513	Obesity
OMIM:615981	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615981	ARL6	84100	HP:0000135	Hypogonadism
OMIM:615981	BBS1	582	HP:0000546	Retinal degeneration
OMIM:615981	BBS1	582	HP:0001249	Intellectual disability
OMIM:615981	BBS1	582	HP:0001644	Dilated cardiomyopathy
OMIM:615981	BBS1	582	HP:0001162	Postaxial hand polydactyly
OMIM:615981	BBS1	582	HP:0001631	Atria septal defect
OMIM:615981	BBS1	582	HP:0001263	Global developmental delay
OMIM:615981	BBS1	582	HP:0001647	Bicuspid aortic valve
OMIM:615981	BBS1	582	HP:0003241	External genital hypoplasia
OMIM:615981	BBS1	582	HP:0001513	Obesity
OMIM:615981	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615981	BBS1	582	HP:0000135	Hypogonadism
OMIM:615981	BBS2	583	HP:0000546	Retinal degeneration
OMIM:615981	BBS2	583	HP:0001249	Intellectual disability
OMIM:615981	BBS2	583	HP:0001644	Dilated cardiomyopathy
OMIM:615981	BBS2	583	HP:0001162	Postaxial hand polydactyly
OMIM:615981	BBS2	583	HP:0001631	Atria septal defect
OMIM:615981	BBS2	583	HP:0001263	Global developmental delay
OMIM:615981	BBS2	583	HP:0001647	Bicuspid aortic valve
OMIM:615981	BBS2	583	HP:0003241	External genital hypoplasia
OMIM:615981	BBS2	583	HP:0001513	Obesity
OMIM:615981	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615981	BBS2	583	HP:0000135	Hypogonadism
OMIM:615981	BBS4	585	HP:0000546	Retinal degeneration
OMIM:615981	BBS4	585	HP:0001249	Intellectual disability
OMIM:615981	BBS4	585	HP:0001644	Dilated cardiomyopathy
OMIM:615981	BBS4	585	HP:0001162	Postaxial hand polydactyly
OMIM:615981	BBS4	585	HP:0001631	Atria septal defect
OMIM:615981	BBS4	585	HP:0001263	Global developmental delay
OMIM:615981	BBS4	585	HP:0001647	Bicuspid aortic valve
OMIM:615981	BBS4	585	HP:0003241	External genital hypoplasia
OMIM:615981	BBS4	585	HP:0001513	Obesity
OMIM:615981	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615981	BBS4	585	HP:0000135	Hypogonadism
OMIM:615981	BBS9	27241	HP:0000546	Retinal degeneration
OMIM:615981	BBS9	27241	HP:0001249	Intellectual disability
OMIM:615981	BBS9	27241	HP:0001644	Dilated cardiomyopathy
OMIM:615981	BBS9	27241	HP:0001162	Postaxial hand polydactyly
OMIM:615981	BBS9	27241	HP:0001631	Atria septal defect
OMIM:615981	BBS9	27241	HP:0001263	Global developmental delay
OMIM:615981	BBS9	27241	HP:0001647	Bicuspid aortic valve
OMIM:615981	BBS9	27241	HP:0003241	External genital hypoplasia
OMIM:615981	BBS9	27241	HP:0001513	Obesity
OMIM:615981	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615981	BBS9	27241	HP:0000135	Hypogonadism
OMIM:615981	TTC8	123016	HP:0000546	Retinal degeneration
OMIM:615981	TTC8	123016	HP:0001249	Intellectual disability
OMIM:615981	TTC8	123016	HP:0001644	Dilated cardiomyopathy
OMIM:615981	TTC8	123016	HP:0001162	Postaxial hand polydactyly
OMIM:615981	TTC8	123016	HP:0001631	Atria septal defect
OMIM:615981	TTC8	123016	HP:0001263	Global developmental delay
OMIM:615981	TTC8	123016	HP:0001647	Bicuspid aortic valve
OMIM:615981	TTC8	123016	HP:0003241	External genital hypoplasia
OMIM:615981	TTC8	123016	HP:0001513	Obesity
OMIM:615981	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615981	TTC8	123016	HP:0000135	Hypogonadism
OMIM:615981	BBS12	166379	HP:0000546	Retinal degeneration
OMIM:615981	BBS12	166379	HP:0001249	Intellectual disability
OMIM:615981	BBS12	166379	HP:0001644	Dilated cardiomyopathy
OMIM:615981	BBS12	166379	HP:0001162	Postaxial hand polydactyly
OMIM:615981	BBS12	166379	HP:0001631	Atria septal defect
OMIM:615981	BBS12	166379	HP:0001263	Global developmental delay
OMIM:615981	BBS12	166379	HP:0001647	Bicuspid aortic valve
OMIM:615981	BBS12	166379	HP:0003241	External genital hypoplasia
OMIM:615981	BBS12	166379	HP:0001513	Obesity
OMIM:615981	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615981	BBS12	166379	HP:0000135	Hypogonadism
OMIM:615981	TRIM32	22954	HP:0000546	Retinal degeneration
OMIM:615981	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:615981	TRIM32	22954	HP:0001644	Dilated cardiomyopathy
OMIM:615981	TRIM32	22954	HP:0001162	Postaxial hand polydactyly
OMIM:615981	TRIM32	22954	HP:0001631	Atria septal defect
OMIM:615981	TRIM32	22954	HP:0001263	Global developmental delay
OMIM:615981	TRIM32	22954	HP:0001647	Bicuspid aortic valve
OMIM:615981	TRIM32	22954	HP:0003241	External genital hypoplasia
OMIM:615981	TRIM32	22954	HP:0001513	Obesity
OMIM:615981	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615981	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:615981	BBS7	55212	HP:0000546	Retinal degeneration
OMIM:615981	BBS7	55212	HP:0001249	Intellectual disability
OMIM:615981	BBS7	55212	HP:0001644	Dilated cardiomyopathy
OMIM:615981	BBS7	55212	HP:0001162	Postaxial hand polydactyly
OMIM:615981	BBS7	55212	HP:0001631	Atria septal defect
OMIM:615981	BBS7	55212	HP:0001263	Global developmental delay
OMIM:615981	BBS7	55212	HP:0001647	Bicuspid aortic valve
OMIM:615981	BBS7	55212	HP:0003241	External genital hypoplasia
OMIM:615981	BBS7	55212	HP:0001513	Obesity
OMIM:615981	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615981	BBS7	55212	HP:0000135	Hypogonadism
OMIM:615981	IFT27	11020	HP:0000546	Retinal degeneration
OMIM:615981	IFT27	11020	HP:0001249	Intellectual disability
OMIM:615981	IFT27	11020	HP:0001644	Dilated cardiomyopathy
OMIM:615981	IFT27	11020	HP:0001162	Postaxial hand polydactyly
OMIM:615981	IFT27	11020	HP:0001631	Atria septal defect
OMIM:615981	IFT27	11020	HP:0001263	Global developmental delay
OMIM:615981	IFT27	11020	HP:0001647	Bicuspid aortic valve
OMIM:615981	IFT27	11020	HP:0003241	External genital hypoplasia
OMIM:615981	IFT27	11020	HP:0001513	Obesity
OMIM:615981	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615981	IFT27	11020	HP:0000135	Hypogonadism
OMIM:615981	IFT172	26160	HP:0000546	Retinal degeneration
OMIM:615981	IFT172	26160	HP:0001249	Intellectual disability
OMIM:615981	IFT172	26160	HP:0001644	Dilated cardiomyopathy
OMIM:615981	IFT172	26160	HP:0001162	Postaxial hand polydactyly
OMIM:615981	IFT172	26160	HP:0001631	Atria septal defect
OMIM:615981	IFT172	26160	HP:0001263	Global developmental delay
OMIM:615981	IFT172	26160	HP:0001647	Bicuspid aortic valve
OMIM:615981	IFT172	26160	HP:0003241	External genital hypoplasia
OMIM:615981	IFT172	26160	HP:0001513	Obesity
OMIM:615981	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615981	IFT172	26160	HP:0000135	Hypogonadism
OMIM:615981	WDPCP	51057	HP:0000546	Retinal degeneration
OMIM:615981	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:615981	WDPCP	51057	HP:0001644	Dilated cardiomyopathy
OMIM:615981	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
OMIM:615981	WDPCP	51057	HP:0001631	Atria septal defect
OMIM:615981	WDPCP	51057	HP:0001263	Global developmental delay
OMIM:615981	WDPCP	51057	HP:0001647	Bicuspid aortic valve
OMIM:615981	WDPCP	51057	HP:0003241	External genital hypoplasia
OMIM:615981	WDPCP	51057	HP:0001513	Obesity
OMIM:615981	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615981	WDPCP	51057	HP:0000135	Hypogonadism
OMIM:615981	SDCCAG8	10806	HP:0000546	Retinal degeneration
OMIM:615981	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:615981	SDCCAG8	10806	HP:0001644	Dilated cardiomyopathy
OMIM:615981	SDCCAG8	10806	HP:0001162	Postaxial hand polydactyly
OMIM:615981	SDCCAG8	10806	HP:0001631	Atria septal defect
OMIM:615981	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:615981	SDCCAG8	10806	HP:0001647	Bicuspid aortic valve
OMIM:615981	SDCCAG8	10806	HP:0003241	External genital hypoplasia
OMIM:615981	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615981	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615981	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:615981	MKS1	54903	HP:0000546	Retinal degeneration
OMIM:615981	MKS1	54903	HP:0001249	Intellectual disability
OMIM:615981	MKS1	54903	HP:0001644	Dilated cardiomyopathy
OMIM:615981	MKS1	54903	HP:0001162	Postaxial hand polydactyly
OMIM:615981	MKS1	54903	HP:0001631	Atria septal defect
OMIM:615981	MKS1	54903	HP:0001263	Global developmental delay
OMIM:615981	MKS1	54903	HP:0001647	Bicuspid aortic valve
OMIM:615981	MKS1	54903	HP:0003241	External genital hypoplasia
OMIM:615981	MKS1	54903	HP:0001513	Obesity
OMIM:615981	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615981	MKS1	54903	HP:0000135	Hypogonadism
OMIM:615981	BBS5	129880	HP:0000546	Retinal degeneration
OMIM:615981	BBS5	129880	HP:0001249	Intellectual disability
OMIM:615981	BBS5	129880	HP:0001644	Dilated cardiomyopathy
OMIM:615981	BBS5	129880	HP:0001162	Postaxial hand polydactyly
OMIM:615981	BBS5	129880	HP:0001631	Atria septal defect
OMIM:615981	BBS5	129880	HP:0001263	Global developmental delay
OMIM:615981	BBS5	129880	HP:0001647	Bicuspid aortic valve
OMIM:615981	BBS5	129880	HP:0003241	External genital hypoplasia
OMIM:615981	BBS5	129880	HP:0001513	Obesity
OMIM:615981	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615981	BBS5	129880	HP:0000135	Hypogonadism
OMIM:615981	CEP290	80184	HP:0000546	Retinal degeneration
OMIM:615981	CEP290	80184	HP:0001249	Intellectual disability
OMIM:615981	CEP290	80184	HP:0001644	Dilated cardiomyopathy
OMIM:615981	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:615981	CEP290	80184	HP:0001631	Atria septal defect
OMIM:615981	CEP290	80184	HP:0001263	Global developmental delay
OMIM:615981	CEP290	80184	HP:0001647	Bicuspid aortic valve
OMIM:615981	CEP290	80184	HP:0003241	External genital hypoplasia
OMIM:615981	CEP290	80184	HP:0001513	Obesity
OMIM:615981	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615981	CEP290	80184	HP:0000135	Hypogonadism
OMIM:615981	LZTFL1	54585	HP:0000546	Retinal degeneration
OMIM:615981	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:615981	LZTFL1	54585	HP:0001644	Dilated cardiomyopathy
OMIM:615981	LZTFL1	54585	HP:0001162	Postaxial hand polydactyly
OMIM:615981	LZTFL1	54585	HP:0001631	Atria septal defect
OMIM:615981	LZTFL1	54585	HP:0001263	Global developmental delay
OMIM:615981	LZTFL1	54585	HP:0001647	Bicuspid aortic valve
OMIM:615981	LZTFL1	54585	HP:0003241	External genital hypoplasia
OMIM:615981	LZTFL1	54585	HP:0001513	Obesity
OMIM:615981	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615981	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:615981	BBS10	79738	HP:0000546	Retinal degeneration
OMIM:615981	BBS10	79738	HP:0001249	Intellectual disability
OMIM:615981	BBS10	79738	HP:0001644	Dilated cardiomyopathy
OMIM:615981	BBS10	79738	HP:0001162	Postaxial hand polydactyly
OMIM:615981	BBS10	79738	HP:0001631	Atria septal defect
OMIM:615981	BBS10	79738	HP:0001263	Global developmental delay
OMIM:615981	BBS10	79738	HP:0001647	Bicuspid aortic valve
OMIM:615981	BBS10	79738	HP:0003241	External genital hypoplasia
OMIM:615981	BBS10	79738	HP:0001513	Obesity
OMIM:615981	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615981	BBS10	79738	HP:0000135	Hypogonadism
OMIM:610733	RIT1	6016	HP:0000508	Ptosis
OMIM:610733	RIT1	6016	HP:0001629	Ventricular septal defect
OMIM:610733	RIT1	6016	HP:0000689	Dental malocclusion
OMIM:610733	RIT1	6016	HP:0000006	Autosomal dominant inheritance
OMIM:610733	RIT1	6016	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	RIT1	6016	HP:0000316	Hypertelorism
OMIM:610733	RIT1	6016	HP:0002650	Scoliosis
OMIM:610733	RIT1	6016	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	RIT1	6016	HP:0000286	Epicanthus
OMIM:610733	RIT1	6016	HP:0000179	Thick lower lip vermilion
OMIM:610733	RIT1	6016	HP:0009890	High anterior hairline
OMIM:610733	RIT1	6016	HP:0000465	Webbed neck
OMIM:610733	RIT1	6016	HP:0000494	Downslanted palpebral fissures
OMIM:610733	RIT1	6016	HP:0000635	Blue irides
OMIM:610733	RIT1	6016	HP:0000028	Cryptorchidism
OMIM:610733	RIT1	6016	HP:0005280	Depressed nasal bridge
OMIM:610733	RIT1	6016	HP:0006610	Wide intermamillary distance
OMIM:610733	RIT1	6016	HP:0000470	Short neck
OMIM:610733	RIT1	6016	HP:0000535	Sparse eyebrow
OMIM:610733	RIT1	6016	HP:0000256	Macrocephaly
OMIM:610733	RIT1	6016	HP:0003010	Prolonged bleeding time
OMIM:610733	RIT1	6016	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	RIT1	6016	HP:0001642	Pulmonic stenosis
OMIM:610733	RIT1	6016	HP:0004322	Short stature
OMIM:610733	RIT1	6016	HP:0002967	Cubitus valgus
OMIM:610733	RIT1	6016	HP:0002212	Curly hair
OMIM:610733	BRAF	673	HP:0000508	Ptosis
OMIM:610733	BRAF	673	HP:0001629	Ventricular septal defect
OMIM:610733	BRAF	673	HP:0000689	Dental malocclusion
OMIM:610733	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:610733	BRAF	673	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	BRAF	673	HP:0000316	Hypertelorism
OMIM:610733	BRAF	673	HP:0002650	Scoliosis
OMIM:610733	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	BRAF	673	HP:0000286	Epicanthus
OMIM:610733	BRAF	673	HP:0000179	Thick lower lip vermilion
OMIM:610733	BRAF	673	HP:0009890	High anterior hairline
OMIM:610733	BRAF	673	HP:0000465	Webbed neck
OMIM:610733	BRAF	673	HP:0000494	Downslanted palpebral fissures
OMIM:610733	BRAF	673	HP:0000635	Blue irides
OMIM:610733	BRAF	673	HP:0000028	Cryptorchidism
OMIM:610733	BRAF	673	HP:0005280	Depressed nasal bridge
OMIM:610733	BRAF	673	HP:0006610	Wide intermamillary distance
OMIM:610733	BRAF	673	HP:0000470	Short neck
OMIM:610733	BRAF	673	HP:0000535	Sparse eyebrow
OMIM:610733	BRAF	673	HP:0000256	Macrocephaly
OMIM:610733	BRAF	673	HP:0003010	Prolonged bleeding time
OMIM:610733	BRAF	673	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:610733	BRAF	673	HP:0004322	Short stature
OMIM:610733	BRAF	673	HP:0002967	Cubitus valgus
OMIM:610733	BRAF	673	HP:0002212	Curly hair
OMIM:610733	KAT6B	23522	HP:0000508	Ptosis
OMIM:610733	KAT6B	23522	HP:0001629	Ventricular septal defect
OMIM:610733	KAT6B	23522	HP:0000689	Dental malocclusion
OMIM:610733	KAT6B	23522	HP:0000006	Autosomal dominant inheritance
OMIM:610733	KAT6B	23522	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	KAT6B	23522	HP:0000316	Hypertelorism
OMIM:610733	KAT6B	23522	HP:0002650	Scoliosis
OMIM:610733	KAT6B	23522	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	KAT6B	23522	HP:0000286	Epicanthus
OMIM:610733	KAT6B	23522	HP:0000179	Thick lower lip vermilion
OMIM:610733	KAT6B	23522	HP:0009890	High anterior hairline
OMIM:610733	KAT6B	23522	HP:0000465	Webbed neck
OMIM:610733	KAT6B	23522	HP:0000494	Downslanted palpebral fissures
OMIM:610733	KAT6B	23522	HP:0000635	Blue irides
OMIM:610733	KAT6B	23522	HP:0000028	Cryptorchidism
OMIM:610733	KAT6B	23522	HP:0005280	Depressed nasal bridge
OMIM:610733	KAT6B	23522	HP:0006610	Wide intermamillary distance
OMIM:610733	KAT6B	23522	HP:0000470	Short neck
OMIM:610733	KAT6B	23522	HP:0000535	Sparse eyebrow
OMIM:610733	KAT6B	23522	HP:0000256	Macrocephaly
OMIM:610733	KAT6B	23522	HP:0003010	Prolonged bleeding time
OMIM:610733	KAT6B	23522	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	KAT6B	23522	HP:0001642	Pulmonic stenosis
OMIM:610733	KAT6B	23522	HP:0004322	Short stature
OMIM:610733	KAT6B	23522	HP:0002967	Cubitus valgus
OMIM:610733	KAT6B	23522	HP:0002212	Curly hair
OMIM:610733	RASA2	5922	HP:0000508	Ptosis
OMIM:610733	RASA2	5922	HP:0001629	Ventricular septal defect
OMIM:610733	RASA2	5922	HP:0000689	Dental malocclusion
OMIM:610733	RASA2	5922	HP:0000006	Autosomal dominant inheritance
OMIM:610733	RASA2	5922	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	RASA2	5922	HP:0000316	Hypertelorism
OMIM:610733	RASA2	5922	HP:0002650	Scoliosis
OMIM:610733	RASA2	5922	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	RASA2	5922	HP:0000286	Epicanthus
OMIM:610733	RASA2	5922	HP:0000179	Thick lower lip vermilion
OMIM:610733	RASA2	5922	HP:0009890	High anterior hairline
OMIM:610733	RASA2	5922	HP:0000465	Webbed neck
OMIM:610733	RASA2	5922	HP:0000494	Downslanted palpebral fissures
OMIM:610733	RASA2	5922	HP:0000635	Blue irides
OMIM:610733	RASA2	5922	HP:0000028	Cryptorchidism
OMIM:610733	RASA2	5922	HP:0005280	Depressed nasal bridge
OMIM:610733	RASA2	5922	HP:0006610	Wide intermamillary distance
OMIM:610733	RASA2	5922	HP:0000470	Short neck
OMIM:610733	RASA2	5922	HP:0000535	Sparse eyebrow
OMIM:610733	RASA2	5922	HP:0000256	Macrocephaly
OMIM:610733	RASA2	5922	HP:0003010	Prolonged bleeding time
OMIM:610733	RASA2	5922	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	RASA2	5922	HP:0001642	Pulmonic stenosis
OMIM:610733	RASA2	5922	HP:0004322	Short stature
OMIM:610733	RASA2	5922	HP:0002967	Cubitus valgus
OMIM:610733	RASA2	5922	HP:0002212	Curly hair
OMIM:610733	PTPN11	5781	HP:0000508	Ptosis
OMIM:610733	PTPN11	5781	HP:0001629	Ventricular septal defect
OMIM:610733	PTPN11	5781	HP:0000689	Dental malocclusion
OMIM:610733	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:610733	PTPN11	5781	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:610733	PTPN11	5781	HP:0002650	Scoliosis
OMIM:610733	PTPN11	5781	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	PTPN11	5781	HP:0000286	Epicanthus
OMIM:610733	PTPN11	5781	HP:0000179	Thick lower lip vermilion
OMIM:610733	PTPN11	5781	HP:0009890	High anterior hairline
OMIM:610733	PTPN11	5781	HP:0000465	Webbed neck
OMIM:610733	PTPN11	5781	HP:0000494	Downslanted palpebral fissures
OMIM:610733	PTPN11	5781	HP:0000635	Blue irides
OMIM:610733	PTPN11	5781	HP:0000028	Cryptorchidism
OMIM:610733	PTPN11	5781	HP:0005280	Depressed nasal bridge
OMIM:610733	PTPN11	5781	HP:0006610	Wide intermamillary distance
OMIM:610733	PTPN11	5781	HP:0000470	Short neck
OMIM:610733	PTPN11	5781	HP:0000535	Sparse eyebrow
OMIM:610733	PTPN11	5781	HP:0000256	Macrocephaly
OMIM:610733	PTPN11	5781	HP:0003010	Prolonged bleeding time
OMIM:610733	PTPN11	5781	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	PTPN11	5781	HP:0001642	Pulmonic stenosis
OMIM:610733	PTPN11	5781	HP:0004322	Short stature
OMIM:610733	PTPN11	5781	HP:0002967	Cubitus valgus
OMIM:610733	PTPN11	5781	HP:0002212	Curly hair
OMIM:610733	KRAS	3845	HP:0000508	Ptosis
OMIM:610733	KRAS	3845	HP:0001629	Ventricular septal defect
OMIM:610733	KRAS	3845	HP:0000689	Dental malocclusion
OMIM:610733	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:610733	KRAS	3845	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	KRAS	3845	HP:0000316	Hypertelorism
OMIM:610733	KRAS	3845	HP:0002650	Scoliosis
OMIM:610733	KRAS	3845	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	KRAS	3845	HP:0000286	Epicanthus
OMIM:610733	KRAS	3845	HP:0000179	Thick lower lip vermilion
OMIM:610733	KRAS	3845	HP:0009890	High anterior hairline
OMIM:610733	KRAS	3845	HP:0000465	Webbed neck
OMIM:610733	KRAS	3845	HP:0000494	Downslanted palpebral fissures
OMIM:610733	KRAS	3845	HP:0000635	Blue irides
OMIM:610733	KRAS	3845	HP:0000028	Cryptorchidism
OMIM:610733	KRAS	3845	HP:0005280	Depressed nasal bridge
OMIM:610733	KRAS	3845	HP:0006610	Wide intermamillary distance
OMIM:610733	KRAS	3845	HP:0000470	Short neck
OMIM:610733	KRAS	3845	HP:0000535	Sparse eyebrow
OMIM:610733	KRAS	3845	HP:0000256	Macrocephaly
OMIM:610733	KRAS	3845	HP:0003010	Prolonged bleeding time
OMIM:610733	KRAS	3845	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:610733	KRAS	3845	HP:0004322	Short stature
OMIM:610733	KRAS	3845	HP:0002967	Cubitus valgus
OMIM:610733	KRAS	3845	HP:0002212	Curly hair
OMIM:610733	RAF1	5894	HP:0000508	Ptosis
OMIM:610733	RAF1	5894	HP:0001629	Ventricular septal defect
OMIM:610733	RAF1	5894	HP:0000689	Dental malocclusion
OMIM:610733	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:610733	RAF1	5894	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	RAF1	5894	HP:0000316	Hypertelorism
OMIM:610733	RAF1	5894	HP:0002650	Scoliosis
OMIM:610733	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	RAF1	5894	HP:0000286	Epicanthus
OMIM:610733	RAF1	5894	HP:0000179	Thick lower lip vermilion
OMIM:610733	RAF1	5894	HP:0009890	High anterior hairline
OMIM:610733	RAF1	5894	HP:0000465	Webbed neck
OMIM:610733	RAF1	5894	HP:0000494	Downslanted palpebral fissures
OMIM:610733	RAF1	5894	HP:0000635	Blue irides
OMIM:610733	RAF1	5894	HP:0000028	Cryptorchidism
OMIM:610733	RAF1	5894	HP:0005280	Depressed nasal bridge
OMIM:610733	RAF1	5894	HP:0006610	Wide intermamillary distance
OMIM:610733	RAF1	5894	HP:0000470	Short neck
OMIM:610733	RAF1	5894	HP:0000535	Sparse eyebrow
OMIM:610733	RAF1	5894	HP:0000256	Macrocephaly
OMIM:610733	RAF1	5894	HP:0003010	Prolonged bleeding time
OMIM:610733	RAF1	5894	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	RAF1	5894	HP:0001642	Pulmonic stenosis
OMIM:610733	RAF1	5894	HP:0004322	Short stature
OMIM:610733	RAF1	5894	HP:0002967	Cubitus valgus
OMIM:610733	RAF1	5894	HP:0002212	Curly hair
OMIM:610733	LZTR1	8216	HP:0000508	Ptosis
OMIM:610733	LZTR1	8216	HP:0001629	Ventricular septal defect
OMIM:610733	LZTR1	8216	HP:0000689	Dental malocclusion
OMIM:610733	LZTR1	8216	HP:0000006	Autosomal dominant inheritance
OMIM:610733	LZTR1	8216	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	LZTR1	8216	HP:0000316	Hypertelorism
OMIM:610733	LZTR1	8216	HP:0002650	Scoliosis
OMIM:610733	LZTR1	8216	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	LZTR1	8216	HP:0000286	Epicanthus
OMIM:610733	LZTR1	8216	HP:0000179	Thick lower lip vermilion
OMIM:610733	LZTR1	8216	HP:0009890	High anterior hairline
OMIM:610733	LZTR1	8216	HP:0000465	Webbed neck
OMIM:610733	LZTR1	8216	HP:0000494	Downslanted palpebral fissures
OMIM:610733	LZTR1	8216	HP:0000635	Blue irides
OMIM:610733	LZTR1	8216	HP:0000028	Cryptorchidism
OMIM:610733	LZTR1	8216	HP:0005280	Depressed nasal bridge
OMIM:610733	LZTR1	8216	HP:0006610	Wide intermamillary distance
OMIM:610733	LZTR1	8216	HP:0000470	Short neck
OMIM:610733	LZTR1	8216	HP:0000535	Sparse eyebrow
OMIM:610733	LZTR1	8216	HP:0000256	Macrocephaly
OMIM:610733	LZTR1	8216	HP:0003010	Prolonged bleeding time
OMIM:610733	LZTR1	8216	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	LZTR1	8216	HP:0001642	Pulmonic stenosis
OMIM:610733	LZTR1	8216	HP:0004322	Short stature
OMIM:610733	LZTR1	8216	HP:0002967	Cubitus valgus
OMIM:610733	LZTR1	8216	HP:0002212	Curly hair
OMIM:610733	A2ML1	144568	HP:0000508	Ptosis
OMIM:610733	A2ML1	144568	HP:0001629	Ventricular septal defect
OMIM:610733	A2ML1	144568	HP:0000689	Dental malocclusion
OMIM:610733	A2ML1	144568	HP:0000006	Autosomal dominant inheritance
OMIM:610733	A2ML1	144568	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	A2ML1	144568	HP:0000316	Hypertelorism
OMIM:610733	A2ML1	144568	HP:0002650	Scoliosis
OMIM:610733	A2ML1	144568	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	A2ML1	144568	HP:0000286	Epicanthus
OMIM:610733	A2ML1	144568	HP:0000179	Thick lower lip vermilion
OMIM:610733	A2ML1	144568	HP:0009890	High anterior hairline
OMIM:610733	A2ML1	144568	HP:0000465	Webbed neck
OMIM:610733	A2ML1	144568	HP:0000494	Downslanted palpebral fissures
OMIM:610733	A2ML1	144568	HP:0000635	Blue irides
OMIM:610733	A2ML1	144568	HP:0000028	Cryptorchidism
OMIM:610733	A2ML1	144568	HP:0005280	Depressed nasal bridge
OMIM:610733	A2ML1	144568	HP:0006610	Wide intermamillary distance
OMIM:610733	A2ML1	144568	HP:0000470	Short neck
OMIM:610733	A2ML1	144568	HP:0000535	Sparse eyebrow
OMIM:610733	A2ML1	144568	HP:0000256	Macrocephaly
OMIM:610733	A2ML1	144568	HP:0003010	Prolonged bleeding time
OMIM:610733	A2ML1	144568	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	A2ML1	144568	HP:0001642	Pulmonic stenosis
OMIM:610733	A2ML1	144568	HP:0004322	Short stature
OMIM:610733	A2ML1	144568	HP:0002967	Cubitus valgus
OMIM:610733	A2ML1	144568	HP:0002212	Curly hair
OMIM:610733	NRAS	4893	HP:0000508	Ptosis
OMIM:610733	NRAS	4893	HP:0001629	Ventricular septal defect
OMIM:610733	NRAS	4893	HP:0000689	Dental malocclusion
OMIM:610733	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:610733	NRAS	4893	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	NRAS	4893	HP:0000316	Hypertelorism
OMIM:610733	NRAS	4893	HP:0002650	Scoliosis
OMIM:610733	NRAS	4893	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	NRAS	4893	HP:0000286	Epicanthus
OMIM:610733	NRAS	4893	HP:0000179	Thick lower lip vermilion
OMIM:610733	NRAS	4893	HP:0009890	High anterior hairline
OMIM:610733	NRAS	4893	HP:0000465	Webbed neck
OMIM:610733	NRAS	4893	HP:0000494	Downslanted palpebral fissures
OMIM:610733	NRAS	4893	HP:0000635	Blue irides
OMIM:610733	NRAS	4893	HP:0000028	Cryptorchidism
OMIM:610733	NRAS	4893	HP:0005280	Depressed nasal bridge
OMIM:610733	NRAS	4893	HP:0006610	Wide intermamillary distance
OMIM:610733	NRAS	4893	HP:0000470	Short neck
OMIM:610733	NRAS	4893	HP:0000535	Sparse eyebrow
OMIM:610733	NRAS	4893	HP:0000256	Macrocephaly
OMIM:610733	NRAS	4893	HP:0003010	Prolonged bleeding time
OMIM:610733	NRAS	4893	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	NRAS	4893	HP:0001642	Pulmonic stenosis
OMIM:610733	NRAS	4893	HP:0004322	Short stature
OMIM:610733	NRAS	4893	HP:0002967	Cubitus valgus
OMIM:610733	NRAS	4893	HP:0002212	Curly hair
OMIM:610733	SOS1	6654	HP:0000508	Ptosis
OMIM:610733	SOS1	6654	HP:0001629	Ventricular septal defect
OMIM:610733	SOS1	6654	HP:0000689	Dental malocclusion
OMIM:610733	SOS1	6654	HP:0000006	Autosomal dominant inheritance
OMIM:610733	SOS1	6654	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	SOS1	6654	HP:0000316	Hypertelorism
OMIM:610733	SOS1	6654	HP:0002650	Scoliosis
OMIM:610733	SOS1	6654	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	SOS1	6654	HP:0000286	Epicanthus
OMIM:610733	SOS1	6654	HP:0000179	Thick lower lip vermilion
OMIM:610733	SOS1	6654	HP:0009890	High anterior hairline
OMIM:610733	SOS1	6654	HP:0000465	Webbed neck
OMIM:610733	SOS1	6654	HP:0000494	Downslanted palpebral fissures
OMIM:610733	SOS1	6654	HP:0000635	Blue irides
OMIM:610733	SOS1	6654	HP:0000028	Cryptorchidism
OMIM:610733	SOS1	6654	HP:0005280	Depressed nasal bridge
OMIM:610733	SOS1	6654	HP:0006610	Wide intermamillary distance
OMIM:610733	SOS1	6654	HP:0000470	Short neck
OMIM:610733	SOS1	6654	HP:0000535	Sparse eyebrow
OMIM:610733	SOS1	6654	HP:0000256	Macrocephaly
OMIM:610733	SOS1	6654	HP:0003010	Prolonged bleeding time
OMIM:610733	SOS1	6654	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	SOS1	6654	HP:0001642	Pulmonic stenosis
OMIM:610733	SOS1	6654	HP:0004322	Short stature
OMIM:610733	SOS1	6654	HP:0002967	Cubitus valgus
OMIM:610733	SOS1	6654	HP:0002212	Curly hair
OMIM:610733	SOS2	6655	HP:0000508	Ptosis
OMIM:610733	SOS2	6655	HP:0001629	Ventricular septal defect
OMIM:610733	SOS2	6655	HP:0000689	Dental malocclusion
OMIM:610733	SOS2	6655	HP:0000006	Autosomal dominant inheritance
OMIM:610733	SOS2	6655	HP:0000915	Pectus excavatum of inferior sternum
OMIM:610733	SOS2	6655	HP:0000316	Hypertelorism
OMIM:610733	SOS2	6655	HP:0002650	Scoliosis
OMIM:610733	SOS2	6655	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610733	SOS2	6655	HP:0000286	Epicanthus
OMIM:610733	SOS2	6655	HP:0000179	Thick lower lip vermilion
OMIM:610733	SOS2	6655	HP:0009890	High anterior hairline
OMIM:610733	SOS2	6655	HP:0000465	Webbed neck
OMIM:610733	SOS2	6655	HP:0000494	Downslanted palpebral fissures
OMIM:610733	SOS2	6655	HP:0000635	Blue irides
OMIM:610733	SOS2	6655	HP:0000028	Cryptorchidism
OMIM:610733	SOS2	6655	HP:0005280	Depressed nasal bridge
OMIM:610733	SOS2	6655	HP:0006610	Wide intermamillary distance
OMIM:610733	SOS2	6655	HP:0000470	Short neck
OMIM:610733	SOS2	6655	HP:0000535	Sparse eyebrow
OMIM:610733	SOS2	6655	HP:0000256	Macrocephaly
OMIM:610733	SOS2	6655	HP:0003010	Prolonged bleeding time
OMIM:610733	SOS2	6655	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610733	SOS2	6655	HP:0001642	Pulmonic stenosis
OMIM:610733	SOS2	6655	HP:0004322	Short stature
OMIM:610733	SOS2	6655	HP:0002967	Cubitus valgus
OMIM:610733	SOS2	6655	HP:0002212	Curly hair
OMIM:616435	FANCC	2176	HP:0001903	Anemia
OMIM:616435	FANCC	2176	HP:0001876	Pancytopenia
OMIM:616435	FANCC	2176	HP:0001873	Thrombocytopenia
OMIM:616435	FANCC	2176	HP:0005528	Bone marrow hypocellularity
OMIM:616435	FANCC	2176	HP:0004322	Short stature
OMIM:616435	FANCC	2176	HP:0009942	Duplication of thumb phalanx
OMIM:616435	FANCC	2176	HP:0009778	Short thumb
OMIM:616435	UBE2T	29089	HP:0001903	Anemia
OMIM:616435	UBE2T	29089	HP:0001876	Pancytopenia
OMIM:616435	UBE2T	29089	HP:0001873	Thrombocytopenia
OMIM:616435	UBE2T	29089	HP:0005528	Bone marrow hypocellularity
OMIM:616435	UBE2T	29089	HP:0004322	Short stature
OMIM:616435	UBE2T	29089	HP:0009942	Duplication of thumb phalanx
OMIM:616435	UBE2T	29089	HP:0009778	Short thumb
OMIM:616435	FANCD2	2177	HP:0001903	Anemia
OMIM:616435	FANCD2	2177	HP:0001876	Pancytopenia
OMIM:616435	FANCD2	2177	HP:0001873	Thrombocytopenia
OMIM:616435	FANCD2	2177	HP:0005528	Bone marrow hypocellularity
OMIM:616435	FANCD2	2177	HP:0004322	Short stature
OMIM:616435	FANCD2	2177	HP:0009942	Duplication of thumb phalanx
OMIM:616435	FANCD2	2177	HP:0009778	Short thumb
OMIM:616435	FANCM	57697	HP:0001903	Anemia
OMIM:616435	FANCM	57697	HP:0001876	Pancytopenia
OMIM:616435	FANCM	57697	HP:0001873	Thrombocytopenia
OMIM:616435	FANCM	57697	HP:0005528	Bone marrow hypocellularity
OMIM:616435	FANCM	57697	HP:0004322	Short stature
OMIM:616435	FANCM	57697	HP:0009942	Duplication of thumb phalanx
OMIM:616435	FANCM	57697	HP:0009778	Short thumb
OMIM:616435	RAD51C	5889	HP:0001903	Anemia
OMIM:616435	RAD51C	5889	HP:0001876	Pancytopenia
OMIM:616435	RAD51C	5889	HP:0001873	Thrombocytopenia
OMIM:616435	RAD51C	5889	HP:0005528	Bone marrow hypocellularity
OMIM:616435	RAD51C	5889	HP:0004322	Short stature
OMIM:616435	RAD51C	5889	HP:0009942	Duplication of thumb phalanx
OMIM:616435	RAD51C	5889	HP:0009778	Short thumb
OMIM:616435	FANCE	2178	HP:0001903	Anemia
OMIM:616435	FANCE	2178	HP:0001876	Pancytopenia
OMIM:616435	FANCE	2178	HP:0001873	Thrombocytopenia
OMIM:616435	FANCE	2178	HP:0005528	Bone marrow hypocellularity
OMIM:616435	FANCE	2178	HP:0004322	Short stature
OMIM:616435	FANCE	2178	HP:0009942	Duplication of thumb phalanx
OMIM:616435	FANCE	2178	HP:0009778	Short thumb
OMIM:616435	BRCA2	675	HP:0001903	Anemia
OMIM:616435	BRCA2	675	HP:0001876	Pancytopenia
OMIM:616435	BRCA2	675	HP:0001873	Thrombocytopenia
OMIM:616435	BRCA2	675	HP:0005528	Bone marrow hypocellularity
OMIM:616435	BRCA2	675	HP:0004322	Short stature
OMIM:616435	BRCA2	675	HP:0009942	Duplication of thumb phalanx
OMIM:616435	BRCA2	675	HP:0009778	Short thumb
OMIM:616435	FANCB	2187	HP:0001903	Anemia
OMIM:616435	FANCB	2187	HP:0001876	Pancytopenia
OMIM:616435	FANCB	2187	HP:0001873	Thrombocytopenia
OMIM:616435	FANCB	2187	HP:0005528	Bone marrow hypocellularity
OMIM:616435	FANCB	2187	HP:0004322	Short stature
OMIM:616435	FANCB	2187	HP:0009942	Duplication of thumb phalanx
OMIM:616435	FANCB	2187	HP:0009778	Short thumb
OMIM:616435	FANCF	2188	HP:0001903	Anemia
OMIM:616435	FANCF	2188	HP:0001876	Pancytopenia
OMIM:616435	FANCF	2188	HP:0001873	Thrombocytopenia
OMIM:616435	FANCF	2188	HP:0005528	Bone marrow hypocellularity
OMIM:616435	FANCF	2188	HP:0004322	Short stature
OMIM:616435	FANCF	2188	HP:0009942	Duplication of thumb phalanx
OMIM:616435	FANCF	2188	HP:0009778	Short thumb
OMIM:616435	FANCG	2189	HP:0001903	Anemia
OMIM:616435	FANCG	2189	HP:0001876	Pancytopenia
OMIM:616435	FANCG	2189	HP:0001873	Thrombocytopenia
OMIM:616435	FANCG	2189	HP:0005528	Bone marrow hypocellularity
OMIM:616435	FANCG	2189	HP:0004322	Short stature
OMIM:616435	FANCG	2189	HP:0009942	Duplication of thumb phalanx
OMIM:616435	FANCG	2189	HP:0009778	Short thumb
OMIM:616435	FANCI	55215	HP:0001903	Anemia
OMIM:616435	FANCI	55215	HP:0001876	Pancytopenia
OMIM:616435	FANCI	55215	HP:0001873	Thrombocytopenia
OMIM:616435	FANCI	55215	HP:0005528	Bone marrow hypocellularity
OMIM:616435	FANCI	55215	HP:0004322	Short stature
OMIM:616435	FANCI	55215	HP:0009942	Duplication of thumb phalanx
OMIM:616435	FANCI	55215	HP:0009778	Short thumb
OMIM:616435	FANCL	55120	HP:0001903	Anemia
OMIM:616435	FANCL	55120	HP:0001876	Pancytopenia
OMIM:616435	FANCL	55120	HP:0001873	Thrombocytopenia
OMIM:616435	FANCL	55120	HP:0005528	Bone marrow hypocellularity
OMIM:616435	FANCL	55120	HP:0004322	Short stature
OMIM:616435	FANCL	55120	HP:0009942	Duplication of thumb phalanx
OMIM:616435	FANCL	55120	HP:0009778	Short thumb
OMIM:616435	PALB2	79728	HP:0001903	Anemia
OMIM:616435	PALB2	79728	HP:0001876	Pancytopenia
OMIM:616435	PALB2	79728	HP:0001873	Thrombocytopenia
OMIM:616435	PALB2	79728	HP:0005528	Bone marrow hypocellularity
OMIM:616435	PALB2	79728	HP:0004322	Short stature
OMIM:616435	PALB2	79728	HP:0009942	Duplication of thumb phalanx
OMIM:616435	PALB2	79728	HP:0009778	Short thumb
OMIM:616435	SLX4	84464	HP:0001903	Anemia
OMIM:616435	SLX4	84464	HP:0001876	Pancytopenia
OMIM:616435	SLX4	84464	HP:0001873	Thrombocytopenia
OMIM:616435	SLX4	84464	HP:0005528	Bone marrow hypocellularity
OMIM:616435	SLX4	84464	HP:0004322	Short stature
OMIM:616435	SLX4	84464	HP:0009942	Duplication of thumb phalanx
OMIM:616435	SLX4	84464	HP:0009778	Short thumb
OMIM:616435	BRIP1	83990	HP:0001903	Anemia
OMIM:616435	BRIP1	83990	HP:0001876	Pancytopenia
OMIM:616435	BRIP1	83990	HP:0001873	Thrombocytopenia
OMIM:616435	BRIP1	83990	HP:0005528	Bone marrow hypocellularity
OMIM:616435	BRIP1	83990	HP:0004322	Short stature
OMIM:616435	BRIP1	83990	HP:0009942	Duplication of thumb phalanx
OMIM:616435	BRIP1	83990	HP:0009778	Short thumb
OMIM:616435	ERCC4	2072	HP:0001903	Anemia
OMIM:616435	ERCC4	2072	HP:0001876	Pancytopenia
OMIM:616435	ERCC4	2072	HP:0001873	Thrombocytopenia
OMIM:616435	ERCC4	2072	HP:0005528	Bone marrow hypocellularity
OMIM:616435	ERCC4	2072	HP:0004322	Short stature
OMIM:616435	ERCC4	2072	HP:0009942	Duplication of thumb phalanx
OMIM:616435	ERCC4	2072	HP:0009778	Short thumb
OMIM:616435	FANCA	2175	HP:0001903	Anemia
OMIM:616435	FANCA	2175	HP:0001876	Pancytopenia
OMIM:616435	FANCA	2175	HP:0001873	Thrombocytopenia
OMIM:616435	FANCA	2175	HP:0005528	Bone marrow hypocellularity
OMIM:616435	FANCA	2175	HP:0004322	Short stature
OMIM:616435	FANCA	2175	HP:0009942	Duplication of thumb phalanx
OMIM:616435	FANCA	2175	HP:0009778	Short thumb
OMIM:209950	IFNGR1	3459	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:209950	IFNGR1	3459	HP:0000007	Autosomal recessive inheritance
OMIM:209950	IFNGR1	3459	HP:0001438	Abnormality of the abdomen
OMIM:611816	KCNH1	3756	HP:0011304	Broad thumb
OMIM:611816	KCNH1	3756	HP:0001181	Adducted thumb
OMIM:611816	KCNH1	3756	HP:0000154	Wide mouth
OMIM:611816	KCNH1	3756	HP:0010055	Broad hallux
OMIM:611816	KCNH1	3756	HP:0000343	Long philtrum
OMIM:611816	KCNH1	3756	HP:0000445	Wide nose
OMIM:611816	KCNH1	3756	HP:0002714	Downturned corners of mouth
OMIM:611816	KCNH1	3756	HP:0005280	Depressed nasal bridge
OMIM:611816	KCNH1	3756	HP:0001263	Global developmental delay
OMIM:611816	KCNH1	3756	HP:0009882	Short distal phalanx of finger
OMIM:611816	KCNH1	3756	HP:0001250	Seizures
OMIM:611816	KCNH1	3756	HP:0010864	Intellectual disability, severe
OMIM:611816	KCNH1	3756	HP:0000286	Epicanthus
OMIM:611816	KCNH1	3756	HP:0001252	Muscular hypotonia
OMIM:611816	KCNH1	3756	HP:0000007	Autosomal recessive inheritance
OMIM:611816	KCNH1	3756	HP:0000316	Hypertelorism
OMIM:611816	KCNH1	3756	HP:0006887	Intellectual disability, progressive
OMIM:118200	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:118200	MPZ	4359	HP:0003431	Decreased motor nerve conduction velocity
OMIM:118200	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:118200	MPZ	4359	HP:0003621	Juvenile onset
OMIM:118200	MPZ	4359	HP:0001425	Heterogeneous
OMIM:118200	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:118200	MPZ	4359	HP:0011096	Peripheral demyelination
OMIM:118200	MPZ	4359	HP:0001178	Ulnar claw
OMIM:118200	MPZ	4359	HP:0003828	Variable expressivity
OMIM:118200	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:118200	MPZ	4359	HP:0003677	Slow progression
OMIM:118200	MPZ	4359	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:118200	MPZ	4359	HP:0001284	Areflexia
OMIM:118200	MPZ	4359	HP:0001765	Hammertoe
OMIM:118200	MPZ	4359	HP:0003376	Steppage gait
OMIM:118200	MPZ	4359	HP:0009027	Foot dorsiflexor weakness
OMIM:118200	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:118200	MPZ	4359	HP:0001761	Pes cavus
OMIM:118200	MPZ	4359	HP:0003383	Onion bulb formation
OMIM:118200	MPZ	4359	HP:0002751	Kyphoscoliosis
OMIM:146520	CDSN	1041	HP:0000006	Autosomal dominant inheritance
OMIM:146520	KRT74	121391	HP:0000006	Autosomal dominant inheritance
OMIM:609140	COL8A2	1296	HP:0000006	Autosomal dominant inheritance
OMIM:609140	COL8A2	1296	HP:0007957	Corneal opacity
OMIM:609140	COL8A2	1296	HP:0001131	Corneal dystrophy
OMIM:609140	ZEB1	6935	HP:0000006	Autosomal dominant inheritance
OMIM:609140	ZEB1	6935	HP:0007957	Corneal opacity
OMIM:609140	ZEB1	6935	HP:0001131	Corneal dystrophy
OMIM:609140	VSX1	30813	HP:0000006	Autosomal dominant inheritance
OMIM:609140	VSX1	30813	HP:0007957	Corneal opacity
OMIM:609140	VSX1	30813	HP:0001131	Corneal dystrophy
OMIM:300143	ZNF711	7552	HP:0000582	Upslanted palpebral fissure
OMIM:300143	ZNF711	7552	HP:0001250	Seizures
OMIM:300143	ZNF711	7552	HP:0000678	Dental crowding
OMIM:300143	ZNF711	7552	HP:0000664	Synophrys
OMIM:300143	ZNF711	7552	HP:0000194	Open mouth
OMIM:300143	ZNF711	7552	HP:0010804	Tented upper lip vermilion
OMIM:300143	ZNF711	7552	HP:0001382	Joint hypermobility
OMIM:300143	ZNF711	7552	HP:0003196	Short nose
OMIM:300143	ZNF711	7552	HP:0000316	Hypertelorism
OMIM:300143	ZNF711	7552	HP:0000752	Hyperactivity
OMIM:300143	ZNF711	7552	HP:0001419	X-linked recessive inheritance
OMIM:300143	ZNF711	7552	HP:0002342	Intellectual disability, moderate
OMIM:300143	ZNF711	7552	HP:0000303	Mandibular prognathia
OMIM:300143	ZNF711	7552	HP:0009909	Uplifted earlobe
OMIM:300143	ZNF711	7552	HP:0000717	Autism
OMIM:300143	IL1RAPL1	11141	HP:0000582	Upslanted palpebral fissure
OMIM:300143	IL1RAPL1	11141	HP:0001250	Seizures
OMIM:300143	IL1RAPL1	11141	HP:0000678	Dental crowding
OMIM:300143	IL1RAPL1	11141	HP:0000664	Synophrys
OMIM:300143	IL1RAPL1	11141	HP:0000194	Open mouth
OMIM:300143	IL1RAPL1	11141	HP:0010804	Tented upper lip vermilion
OMIM:300143	IL1RAPL1	11141	HP:0001382	Joint hypermobility
OMIM:300143	IL1RAPL1	11141	HP:0003196	Short nose
OMIM:300143	IL1RAPL1	11141	HP:0000316	Hypertelorism
OMIM:300143	IL1RAPL1	11141	HP:0000752	Hyperactivity
OMIM:300143	IL1RAPL1	11141	HP:0001419	X-linked recessive inheritance
OMIM:300143	IL1RAPL1	11141	HP:0002342	Intellectual disability, moderate
OMIM:300143	IL1RAPL1	11141	HP:0000303	Mandibular prognathia
OMIM:300143	IL1RAPL1	11141	HP:0009909	Uplifted earlobe
OMIM:300143	IL1RAPL1	11141	HP:0000717	Autism
OMIM:300143	ACSL4	2182	HP:0000582	Upslanted palpebral fissure
OMIM:300143	ACSL4	2182	HP:0001250	Seizures
OMIM:300143	ACSL4	2182	HP:0000678	Dental crowding
OMIM:300143	ACSL4	2182	HP:0000664	Synophrys
OMIM:300143	ACSL4	2182	HP:0000194	Open mouth
OMIM:300143	ACSL4	2182	HP:0010804	Tented upper lip vermilion
OMIM:300143	ACSL4	2182	HP:0001382	Joint hypermobility
OMIM:300143	ACSL4	2182	HP:0003196	Short nose
OMIM:300143	ACSL4	2182	HP:0000316	Hypertelorism
OMIM:300143	ACSL4	2182	HP:0000752	Hyperactivity
OMIM:300143	ACSL4	2182	HP:0001419	X-linked recessive inheritance
OMIM:300143	ACSL4	2182	HP:0002342	Intellectual disability, moderate
OMIM:300143	ACSL4	2182	HP:0000303	Mandibular prognathia
OMIM:300143	ACSL4	2182	HP:0009909	Uplifted earlobe
OMIM:300143	ACSL4	2182	HP:0000717	Autism
OMIM:300143	PAK3	5063	HP:0000582	Upslanted palpebral fissure
OMIM:300143	PAK3	5063	HP:0001250	Seizures
OMIM:300143	PAK3	5063	HP:0000678	Dental crowding
OMIM:300143	PAK3	5063	HP:0000664	Synophrys
OMIM:300143	PAK3	5063	HP:0000194	Open mouth
OMIM:300143	PAK3	5063	HP:0010804	Tented upper lip vermilion
OMIM:300143	PAK3	5063	HP:0001382	Joint hypermobility
OMIM:300143	PAK3	5063	HP:0003196	Short nose
OMIM:300143	PAK3	5063	HP:0000316	Hypertelorism
OMIM:300143	PAK3	5063	HP:0000752	Hyperactivity
OMIM:300143	PAK3	5063	HP:0001419	X-linked recessive inheritance
OMIM:300143	PAK3	5063	HP:0002342	Intellectual disability, moderate
OMIM:300143	PAK3	5063	HP:0000303	Mandibular prognathia
OMIM:300143	PAK3	5063	HP:0009909	Uplifted earlobe
OMIM:300143	PAK3	5063	HP:0000717	Autism
OMIM:300143	SYP	6855	HP:0000582	Upslanted palpebral fissure
OMIM:300143	SYP	6855	HP:0001250	Seizures
OMIM:300143	SYP	6855	HP:0000678	Dental crowding
OMIM:300143	SYP	6855	HP:0000664	Synophrys
OMIM:300143	SYP	6855	HP:0000194	Open mouth
OMIM:300143	SYP	6855	HP:0010804	Tented upper lip vermilion
OMIM:300143	SYP	6855	HP:0001382	Joint hypermobility
OMIM:300143	SYP	6855	HP:0003196	Short nose
OMIM:300143	SYP	6855	HP:0000316	Hypertelorism
OMIM:300143	SYP	6855	HP:0000752	Hyperactivity
OMIM:300143	SYP	6855	HP:0001419	X-linked recessive inheritance
OMIM:300143	SYP	6855	HP:0002342	Intellectual disability, moderate
OMIM:300143	SYP	6855	HP:0000303	Mandibular prognathia
OMIM:300143	SYP	6855	HP:0009909	Uplifted earlobe
OMIM:300143	SYP	6855	HP:0000717	Autism
OMIM:300143	FTSJ1	24140	HP:0000582	Upslanted palpebral fissure
OMIM:300143	FTSJ1	24140	HP:0001250	Seizures
OMIM:300143	FTSJ1	24140	HP:0000678	Dental crowding
OMIM:300143	FTSJ1	24140	HP:0000664	Synophrys
OMIM:300143	FTSJ1	24140	HP:0000194	Open mouth
OMIM:300143	FTSJ1	24140	HP:0010804	Tented upper lip vermilion
OMIM:300143	FTSJ1	24140	HP:0001382	Joint hypermobility
OMIM:300143	FTSJ1	24140	HP:0003196	Short nose
OMIM:300143	FTSJ1	24140	HP:0000316	Hypertelorism
OMIM:300143	FTSJ1	24140	HP:0000752	Hyperactivity
OMIM:300143	FTSJ1	24140	HP:0001419	X-linked recessive inheritance
OMIM:300143	FTSJ1	24140	HP:0002342	Intellectual disability, moderate
OMIM:300143	FTSJ1	24140	HP:0000303	Mandibular prognathia
OMIM:300143	FTSJ1	24140	HP:0009909	Uplifted earlobe
OMIM:300143	FTSJ1	24140	HP:0000717	Autism
OMIM:300143	DLG3	1741	HP:0000582	Upslanted palpebral fissure
OMIM:300143	DLG3	1741	HP:0001250	Seizures
OMIM:300143	DLG3	1741	HP:0000678	Dental crowding
OMIM:300143	DLG3	1741	HP:0000664	Synophrys
OMIM:300143	DLG3	1741	HP:0000194	Open mouth
OMIM:300143	DLG3	1741	HP:0010804	Tented upper lip vermilion
OMIM:300143	DLG3	1741	HP:0001382	Joint hypermobility
OMIM:300143	DLG3	1741	HP:0003196	Short nose
OMIM:300143	DLG3	1741	HP:0000316	Hypertelorism
OMIM:300143	DLG3	1741	HP:0000752	Hyperactivity
OMIM:300143	DLG3	1741	HP:0001419	X-linked recessive inheritance
OMIM:300143	DLG3	1741	HP:0002342	Intellectual disability, moderate
OMIM:300143	DLG3	1741	HP:0000303	Mandibular prognathia
OMIM:300143	DLG3	1741	HP:0009909	Uplifted earlobe
OMIM:300143	DLG3	1741	HP:0000717	Autism
OMIM:300143	PTCHD1	139411	HP:0000582	Upslanted palpebral fissure
OMIM:300143	PTCHD1	139411	HP:0001250	Seizures
OMIM:300143	PTCHD1	139411	HP:0000678	Dental crowding
OMIM:300143	PTCHD1	139411	HP:0000664	Synophrys
OMIM:300143	PTCHD1	139411	HP:0000194	Open mouth
OMIM:300143	PTCHD1	139411	HP:0010804	Tented upper lip vermilion
OMIM:300143	PTCHD1	139411	HP:0001382	Joint hypermobility
OMIM:300143	PTCHD1	139411	HP:0003196	Short nose
OMIM:300143	PTCHD1	139411	HP:0000316	Hypertelorism
OMIM:300143	PTCHD1	139411	HP:0000752	Hyperactivity
OMIM:300143	PTCHD1	139411	HP:0001419	X-linked recessive inheritance
OMIM:300143	PTCHD1	139411	HP:0002342	Intellectual disability, moderate
OMIM:300143	PTCHD1	139411	HP:0000303	Mandibular prognathia
OMIM:300143	PTCHD1	139411	HP:0009909	Uplifted earlobe
OMIM:300143	PTCHD1	139411	HP:0000717	Autism
OMIM:300143	UPF3B	65109	HP:0000582	Upslanted palpebral fissure
OMIM:300143	UPF3B	65109	HP:0001250	Seizures
OMIM:300143	UPF3B	65109	HP:0000678	Dental crowding
OMIM:300143	UPF3B	65109	HP:0000664	Synophrys
OMIM:300143	UPF3B	65109	HP:0000194	Open mouth
OMIM:300143	UPF3B	65109	HP:0010804	Tented upper lip vermilion
OMIM:300143	UPF3B	65109	HP:0001382	Joint hypermobility
OMIM:300143	UPF3B	65109	HP:0003196	Short nose
OMIM:300143	UPF3B	65109	HP:0000316	Hypertelorism
OMIM:300143	UPF3B	65109	HP:0000752	Hyperactivity
OMIM:300143	UPF3B	65109	HP:0001419	X-linked recessive inheritance
OMIM:300143	UPF3B	65109	HP:0002342	Intellectual disability, moderate
OMIM:300143	UPF3B	65109	HP:0000303	Mandibular prognathia
OMIM:300143	UPF3B	65109	HP:0009909	Uplifted earlobe
OMIM:300143	UPF3B	65109	HP:0000717	Autism
OMIM:300143	ZNF81	347344	HP:0000582	Upslanted palpebral fissure
OMIM:300143	ZNF81	347344	HP:0001250	Seizures
OMIM:300143	ZNF81	347344	HP:0000678	Dental crowding
OMIM:300143	ZNF81	347344	HP:0000664	Synophrys
OMIM:300143	ZNF81	347344	HP:0000194	Open mouth
OMIM:300143	ZNF81	347344	HP:0010804	Tented upper lip vermilion
OMIM:300143	ZNF81	347344	HP:0001382	Joint hypermobility
OMIM:300143	ZNF81	347344	HP:0003196	Short nose
OMIM:300143	ZNF81	347344	HP:0000316	Hypertelorism
OMIM:300143	ZNF81	347344	HP:0000752	Hyperactivity
OMIM:300143	ZNF81	347344	HP:0001419	X-linked recessive inheritance
OMIM:300143	ZNF81	347344	HP:0002342	Intellectual disability, moderate
OMIM:300143	ZNF81	347344	HP:0000303	Mandibular prognathia
OMIM:300143	ZNF81	347344	HP:0009909	Uplifted earlobe
OMIM:300143	ZNF81	347344	HP:0000717	Autism
OMIM:300143	RAB39B	116442	HP:0000582	Upslanted palpebral fissure
OMIM:300143	RAB39B	116442	HP:0001250	Seizures
OMIM:300143	RAB39B	116442	HP:0000678	Dental crowding
OMIM:300143	RAB39B	116442	HP:0000664	Synophrys
OMIM:300143	RAB39B	116442	HP:0000194	Open mouth
OMIM:300143	RAB39B	116442	HP:0010804	Tented upper lip vermilion
OMIM:300143	RAB39B	116442	HP:0001382	Joint hypermobility
OMIM:300143	RAB39B	116442	HP:0003196	Short nose
OMIM:300143	RAB39B	116442	HP:0000316	Hypertelorism
OMIM:300143	RAB39B	116442	HP:0000752	Hyperactivity
OMIM:300143	RAB39B	116442	HP:0001419	X-linked recessive inheritance
OMIM:300143	RAB39B	116442	HP:0002342	Intellectual disability, moderate
OMIM:300143	RAB39B	116442	HP:0000303	Mandibular prognathia
OMIM:300143	RAB39B	116442	HP:0009909	Uplifted earlobe
OMIM:300143	RAB39B	116442	HP:0000717	Autism
OMIM:300143	DMD	1756	HP:0000582	Upslanted palpebral fissure
OMIM:300143	DMD	1756	HP:0001250	Seizures
OMIM:300143	DMD	1756	HP:0000678	Dental crowding
OMIM:300143	DMD	1756	HP:0000664	Synophrys
OMIM:300143	DMD	1756	HP:0000194	Open mouth
OMIM:300143	DMD	1756	HP:0010804	Tented upper lip vermilion
OMIM:300143	DMD	1756	HP:0001382	Joint hypermobility
OMIM:300143	DMD	1756	HP:0003196	Short nose
OMIM:300143	DMD	1756	HP:0000316	Hypertelorism
OMIM:300143	DMD	1756	HP:0000752	Hyperactivity
OMIM:300143	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:300143	DMD	1756	HP:0002342	Intellectual disability, moderate
OMIM:300143	DMD	1756	HP:0000303	Mandibular prognathia
OMIM:300143	DMD	1756	HP:0009909	Uplifted earlobe
OMIM:300143	DMD	1756	HP:0000717	Autism
OMIM:300143	MAGT1	84061	HP:0000582	Upslanted palpebral fissure
OMIM:300143	MAGT1	84061	HP:0001250	Seizures
OMIM:300143	MAGT1	84061	HP:0000678	Dental crowding
OMIM:300143	MAGT1	84061	HP:0000664	Synophrys
OMIM:300143	MAGT1	84061	HP:0000194	Open mouth
OMIM:300143	MAGT1	84061	HP:0010804	Tented upper lip vermilion
OMIM:300143	MAGT1	84061	HP:0001382	Joint hypermobility
OMIM:300143	MAGT1	84061	HP:0003196	Short nose
OMIM:300143	MAGT1	84061	HP:0000316	Hypertelorism
OMIM:300143	MAGT1	84061	HP:0000752	Hyperactivity
OMIM:300143	MAGT1	84061	HP:0001419	X-linked recessive inheritance
OMIM:300143	MAGT1	84061	HP:0002342	Intellectual disability, moderate
OMIM:300143	MAGT1	84061	HP:0000303	Mandibular prognathia
OMIM:300143	MAGT1	84061	HP:0009909	Uplifted earlobe
OMIM:300143	MAGT1	84061	HP:0000717	Autism
OMIM:300143	MID2	11043	HP:0000582	Upslanted palpebral fissure
OMIM:300143	MID2	11043	HP:0001250	Seizures
OMIM:300143	MID2	11043	HP:0000678	Dental crowding
OMIM:300143	MID2	11043	HP:0000664	Synophrys
OMIM:300143	MID2	11043	HP:0000194	Open mouth
OMIM:300143	MID2	11043	HP:0010804	Tented upper lip vermilion
OMIM:300143	MID2	11043	HP:0001382	Joint hypermobility
OMIM:300143	MID2	11043	HP:0003196	Short nose
OMIM:300143	MID2	11043	HP:0000316	Hypertelorism
OMIM:300143	MID2	11043	HP:0000752	Hyperactivity
OMIM:300143	MID2	11043	HP:0001419	X-linked recessive inheritance
OMIM:300143	MID2	11043	HP:0002342	Intellectual disability, moderate
OMIM:300143	MID2	11043	HP:0000303	Mandibular prognathia
OMIM:300143	MID2	11043	HP:0009909	Uplifted earlobe
OMIM:300143	MID2	11043	HP:0000717	Autism
OMIM:300143	GDI1	2664	HP:0000582	Upslanted palpebral fissure
OMIM:300143	GDI1	2664	HP:0001250	Seizures
OMIM:300143	GDI1	2664	HP:0000678	Dental crowding
OMIM:300143	GDI1	2664	HP:0000664	Synophrys
OMIM:300143	GDI1	2664	HP:0000194	Open mouth
OMIM:300143	GDI1	2664	HP:0010804	Tented upper lip vermilion
OMIM:300143	GDI1	2664	HP:0001382	Joint hypermobility
OMIM:300143	GDI1	2664	HP:0003196	Short nose
OMIM:300143	GDI1	2664	HP:0000316	Hypertelorism
OMIM:300143	GDI1	2664	HP:0000752	Hyperactivity
OMIM:300143	GDI1	2664	HP:0001419	X-linked recessive inheritance
OMIM:300143	GDI1	2664	HP:0002342	Intellectual disability, moderate
OMIM:300143	GDI1	2664	HP:0000303	Mandibular prognathia
OMIM:300143	GDI1	2664	HP:0009909	Uplifted earlobe
OMIM:300143	GDI1	2664	HP:0000717	Autism
OMIM:300143	ZNF41	7592	HP:0000582	Upslanted palpebral fissure
OMIM:300143	ZNF41	7592	HP:0001250	Seizures
OMIM:300143	ZNF41	7592	HP:0000678	Dental crowding
OMIM:300143	ZNF41	7592	HP:0000664	Synophrys
OMIM:300143	ZNF41	7592	HP:0000194	Open mouth
OMIM:300143	ZNF41	7592	HP:0010804	Tented upper lip vermilion
OMIM:300143	ZNF41	7592	HP:0001382	Joint hypermobility
OMIM:300143	ZNF41	7592	HP:0003196	Short nose
OMIM:300143	ZNF41	7592	HP:0000316	Hypertelorism
OMIM:300143	ZNF41	7592	HP:0000752	Hyperactivity
OMIM:300143	ZNF41	7592	HP:0001419	X-linked recessive inheritance
OMIM:300143	ZNF41	7592	HP:0002342	Intellectual disability, moderate
OMIM:300143	ZNF41	7592	HP:0000303	Mandibular prognathia
OMIM:300143	ZNF41	7592	HP:0009909	Uplifted earlobe
OMIM:300143	ZNF41	7592	HP:0000717	Autism
OMIM:300143	MECP2	4204	HP:0000582	Upslanted palpebral fissure
OMIM:300143	MECP2	4204	HP:0001250	Seizures
OMIM:300143	MECP2	4204	HP:0000678	Dental crowding
OMIM:300143	MECP2	4204	HP:0000664	Synophrys
OMIM:300143	MECP2	4204	HP:0000194	Open mouth
OMIM:300143	MECP2	4204	HP:0010804	Tented upper lip vermilion
OMIM:300143	MECP2	4204	HP:0001382	Joint hypermobility
OMIM:300143	MECP2	4204	HP:0003196	Short nose
OMIM:300143	MECP2	4204	HP:0000316	Hypertelorism
OMIM:300143	MECP2	4204	HP:0000752	Hyperactivity
OMIM:300143	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300143	MECP2	4204	HP:0002342	Intellectual disability, moderate
OMIM:300143	MECP2	4204	HP:0000303	Mandibular prognathia
OMIM:300143	MECP2	4204	HP:0009909	Uplifted earlobe
OMIM:300143	MECP2	4204	HP:0000717	Autism
OMIM:300143	HCFC1	3054	HP:0000582	Upslanted palpebral fissure
OMIM:300143	HCFC1	3054	HP:0001250	Seizures
OMIM:300143	HCFC1	3054	HP:0000678	Dental crowding
OMIM:300143	HCFC1	3054	HP:0000664	Synophrys
OMIM:300143	HCFC1	3054	HP:0000194	Open mouth
OMIM:300143	HCFC1	3054	HP:0010804	Tented upper lip vermilion
OMIM:300143	HCFC1	3054	HP:0001382	Joint hypermobility
OMIM:300143	HCFC1	3054	HP:0003196	Short nose
OMIM:300143	HCFC1	3054	HP:0000316	Hypertelorism
OMIM:300143	HCFC1	3054	HP:0000752	Hyperactivity
OMIM:300143	HCFC1	3054	HP:0001419	X-linked recessive inheritance
OMIM:300143	HCFC1	3054	HP:0002342	Intellectual disability, moderate
OMIM:300143	HCFC1	3054	HP:0000303	Mandibular prognathia
OMIM:300143	HCFC1	3054	HP:0009909	Uplifted earlobe
OMIM:300143	HCFC1	3054	HP:0000717	Autism
OMIM:300143	USP9X	8239	HP:0000582	Upslanted palpebral fissure
OMIM:300143	USP9X	8239	HP:0001250	Seizures
OMIM:300143	USP9X	8239	HP:0000678	Dental crowding
OMIM:300143	USP9X	8239	HP:0000664	Synophrys
OMIM:300143	USP9X	8239	HP:0000194	Open mouth
OMIM:300143	USP9X	8239	HP:0010804	Tented upper lip vermilion
OMIM:300143	USP9X	8239	HP:0001382	Joint hypermobility
OMIM:300143	USP9X	8239	HP:0003196	Short nose
OMIM:300143	USP9X	8239	HP:0000316	Hypertelorism
OMIM:300143	USP9X	8239	HP:0000752	Hyperactivity
OMIM:300143	USP9X	8239	HP:0001419	X-linked recessive inheritance
OMIM:300143	USP9X	8239	HP:0002342	Intellectual disability, moderate
OMIM:300143	USP9X	8239	HP:0000303	Mandibular prognathia
OMIM:300143	USP9X	8239	HP:0009909	Uplifted earlobe
OMIM:300143	USP9X	8239	HP:0000717	Autism
OMIM:300143	MED12	9968	HP:0000582	Upslanted palpebral fissure
OMIM:300143	MED12	9968	HP:0001250	Seizures
OMIM:300143	MED12	9968	HP:0000678	Dental crowding
OMIM:300143	MED12	9968	HP:0000664	Synophrys
OMIM:300143	MED12	9968	HP:0000194	Open mouth
OMIM:300143	MED12	9968	HP:0010804	Tented upper lip vermilion
OMIM:300143	MED12	9968	HP:0001382	Joint hypermobility
OMIM:300143	MED12	9968	HP:0003196	Short nose
OMIM:300143	MED12	9968	HP:0000316	Hypertelorism
OMIM:300143	MED12	9968	HP:0000752	Hyperactivity
OMIM:300143	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:300143	MED12	9968	HP:0002342	Intellectual disability, moderate
OMIM:300143	MED12	9968	HP:0000303	Mandibular prognathia
OMIM:300143	MED12	9968	HP:0009909	Uplifted earlobe
OMIM:300143	MED12	9968	HP:0000717	Autism
OMIM:300143	ZNF674	641339	HP:0000582	Upslanted palpebral fissure
OMIM:300143	ZNF674	641339	HP:0001250	Seizures
OMIM:300143	ZNF674	641339	HP:0000678	Dental crowding
OMIM:300143	ZNF674	641339	HP:0000664	Synophrys
OMIM:300143	ZNF674	641339	HP:0000194	Open mouth
OMIM:300143	ZNF674	641339	HP:0010804	Tented upper lip vermilion
OMIM:300143	ZNF674	641339	HP:0001382	Joint hypermobility
OMIM:300143	ZNF674	641339	HP:0003196	Short nose
OMIM:300143	ZNF674	641339	HP:0000316	Hypertelorism
OMIM:300143	ZNF674	641339	HP:0000752	Hyperactivity
OMIM:300143	ZNF674	641339	HP:0001419	X-linked recessive inheritance
OMIM:300143	ZNF674	641339	HP:0002342	Intellectual disability, moderate
OMIM:300143	ZNF674	641339	HP:0000303	Mandibular prognathia
OMIM:300143	ZNF674	641339	HP:0009909	Uplifted earlobe
OMIM:300143	ZNF674	641339	HP:0000717	Autism
OMIM:300143	ARHGEF6	9459	HP:0000582	Upslanted palpebral fissure
OMIM:300143	ARHGEF6	9459	HP:0001250	Seizures
OMIM:300143	ARHGEF6	9459	HP:0000678	Dental crowding
OMIM:300143	ARHGEF6	9459	HP:0000664	Synophrys
OMIM:300143	ARHGEF6	9459	HP:0000194	Open mouth
OMIM:300143	ARHGEF6	9459	HP:0010804	Tented upper lip vermilion
OMIM:300143	ARHGEF6	9459	HP:0001382	Joint hypermobility
OMIM:300143	ARHGEF6	9459	HP:0003196	Short nose
OMIM:300143	ARHGEF6	9459	HP:0000316	Hypertelorism
OMIM:300143	ARHGEF6	9459	HP:0000752	Hyperactivity
OMIM:300143	ARHGEF6	9459	HP:0001419	X-linked recessive inheritance
OMIM:300143	ARHGEF6	9459	HP:0002342	Intellectual disability, moderate
OMIM:300143	ARHGEF6	9459	HP:0000303	Mandibular prognathia
OMIM:300143	ARHGEF6	9459	HP:0009909	Uplifted earlobe
OMIM:300143	ARHGEF6	9459	HP:0000717	Autism
OMIM:300143	RPS6KA3	6197	HP:0000582	Upslanted palpebral fissure
OMIM:300143	RPS6KA3	6197	HP:0001250	Seizures
OMIM:300143	RPS6KA3	6197	HP:0000678	Dental crowding
OMIM:300143	RPS6KA3	6197	HP:0000664	Synophrys
OMIM:300143	RPS6KA3	6197	HP:0000194	Open mouth
OMIM:300143	RPS6KA3	6197	HP:0010804	Tented upper lip vermilion
OMIM:300143	RPS6KA3	6197	HP:0001382	Joint hypermobility
OMIM:300143	RPS6KA3	6197	HP:0003196	Short nose
OMIM:300143	RPS6KA3	6197	HP:0000316	Hypertelorism
OMIM:300143	RPS6KA3	6197	HP:0000752	Hyperactivity
OMIM:300143	RPS6KA3	6197	HP:0001419	X-linked recessive inheritance
OMIM:300143	RPS6KA3	6197	HP:0002342	Intellectual disability, moderate
OMIM:300143	RPS6KA3	6197	HP:0000303	Mandibular prognathia
OMIM:300143	RPS6KA3	6197	HP:0009909	Uplifted earlobe
OMIM:300143	RPS6KA3	6197	HP:0000717	Autism
OMIM:300143	IQSEC2	23096	HP:0000582	Upslanted palpebral fissure
OMIM:300143	IQSEC2	23096	HP:0001250	Seizures
OMIM:300143	IQSEC2	23096	HP:0000678	Dental crowding
OMIM:300143	IQSEC2	23096	HP:0000664	Synophrys
OMIM:300143	IQSEC2	23096	HP:0000194	Open mouth
OMIM:300143	IQSEC2	23096	HP:0010804	Tented upper lip vermilion
OMIM:300143	IQSEC2	23096	HP:0001382	Joint hypermobility
OMIM:300143	IQSEC2	23096	HP:0003196	Short nose
OMIM:300143	IQSEC2	23096	HP:0000316	Hypertelorism
OMIM:300143	IQSEC2	23096	HP:0000752	Hyperactivity
OMIM:300143	IQSEC2	23096	HP:0001419	X-linked recessive inheritance
OMIM:300143	IQSEC2	23096	HP:0002342	Intellectual disability, moderate
OMIM:300143	IQSEC2	23096	HP:0000303	Mandibular prognathia
OMIM:300143	IQSEC2	23096	HP:0009909	Uplifted earlobe
OMIM:300143	IQSEC2	23096	HP:0000717	Autism
OMIM:300143	AGTR2	186	HP:0000582	Upslanted palpebral fissure
OMIM:300143	AGTR2	186	HP:0001250	Seizures
OMIM:300143	AGTR2	186	HP:0000678	Dental crowding
OMIM:300143	AGTR2	186	HP:0000664	Synophrys
OMIM:300143	AGTR2	186	HP:0000194	Open mouth
OMIM:300143	AGTR2	186	HP:0010804	Tented upper lip vermilion
OMIM:300143	AGTR2	186	HP:0001382	Joint hypermobility
OMIM:300143	AGTR2	186	HP:0003196	Short nose
OMIM:300143	AGTR2	186	HP:0000316	Hypertelorism
OMIM:300143	AGTR2	186	HP:0000752	Hyperactivity
OMIM:300143	AGTR2	186	HP:0001419	X-linked recessive inheritance
OMIM:300143	AGTR2	186	HP:0002342	Intellectual disability, moderate
OMIM:300143	AGTR2	186	HP:0000303	Mandibular prognathia
OMIM:300143	AGTR2	186	HP:0009909	Uplifted earlobe
OMIM:300143	AGTR2	186	HP:0000717	Autism
OMIM:300143	ARX	170302	HP:0000582	Upslanted palpebral fissure
OMIM:300143	ARX	170302	HP:0001250	Seizures
OMIM:300143	ARX	170302	HP:0000678	Dental crowding
OMIM:300143	ARX	170302	HP:0000664	Synophrys
OMIM:300143	ARX	170302	HP:0000194	Open mouth
OMIM:300143	ARX	170302	HP:0010804	Tented upper lip vermilion
OMIM:300143	ARX	170302	HP:0001382	Joint hypermobility
OMIM:300143	ARX	170302	HP:0003196	Short nose
OMIM:300143	ARX	170302	HP:0000316	Hypertelorism
OMIM:300143	ARX	170302	HP:0000752	Hyperactivity
OMIM:300143	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:300143	ARX	170302	HP:0002342	Intellectual disability, moderate
OMIM:300143	ARX	170302	HP:0000303	Mandibular prognathia
OMIM:300143	ARX	170302	HP:0009909	Uplifted earlobe
OMIM:300143	ARX	170302	HP:0000717	Autism
OMIM:300143	ALG13	79868	HP:0000582	Upslanted palpebral fissure
OMIM:300143	ALG13	79868	HP:0001250	Seizures
OMIM:300143	ALG13	79868	HP:0000678	Dental crowding
OMIM:300143	ALG13	79868	HP:0000664	Synophrys
OMIM:300143	ALG13	79868	HP:0000194	Open mouth
OMIM:300143	ALG13	79868	HP:0010804	Tented upper lip vermilion
OMIM:300143	ALG13	79868	HP:0001382	Joint hypermobility
OMIM:300143	ALG13	79868	HP:0003196	Short nose
OMIM:300143	ALG13	79868	HP:0000316	Hypertelorism
OMIM:300143	ALG13	79868	HP:0000752	Hyperactivity
OMIM:300143	ALG13	79868	HP:0001419	X-linked recessive inheritance
OMIM:300143	ALG13	79868	HP:0002342	Intellectual disability, moderate
OMIM:300143	ALG13	79868	HP:0000303	Mandibular prognathia
OMIM:300143	ALG13	79868	HP:0009909	Uplifted earlobe
OMIM:300143	ALG13	79868	HP:0000717	Autism
OMIM:300143	TSPAN7	7102	HP:0000582	Upslanted palpebral fissure
OMIM:300143	TSPAN7	7102	HP:0001250	Seizures
OMIM:300143	TSPAN7	7102	HP:0000678	Dental crowding
OMIM:300143	TSPAN7	7102	HP:0000664	Synophrys
OMIM:300143	TSPAN7	7102	HP:0000194	Open mouth
OMIM:300143	TSPAN7	7102	HP:0010804	Tented upper lip vermilion
OMIM:300143	TSPAN7	7102	HP:0001382	Joint hypermobility
OMIM:300143	TSPAN7	7102	HP:0003196	Short nose
OMIM:300143	TSPAN7	7102	HP:0000316	Hypertelorism
OMIM:300143	TSPAN7	7102	HP:0000752	Hyperactivity
OMIM:300143	TSPAN7	7102	HP:0001419	X-linked recessive inheritance
OMIM:300143	TSPAN7	7102	HP:0002342	Intellectual disability, moderate
OMIM:300143	TSPAN7	7102	HP:0000303	Mandibular prognathia
OMIM:300143	TSPAN7	7102	HP:0009909	Uplifted earlobe
OMIM:300143	TSPAN7	7102	HP:0000717	Autism
OMIM:173850	PVR	5817	HP:0000006	Autosomal dominant inheritance
OMIM:173850	PVR	5817	HP:0002715	Abnormality of the immune system
OMIM:616354	SNX14	57231	HP:0000280	Coarse facial features
OMIM:616354	SNX14	57231	HP:0012471	Thick vermilion border
OMIM:616354	SNX14	57231	HP:0001250	Seizures
OMIM:616354	SNX14	57231	HP:0000407	Sensorineural hearing impairment
OMIM:616354	SNX14	57231	HP:0030084	Clinodactyly
OMIM:616354	SNX14	57231	HP:0000289	Broad philtrum
OMIM:616354	SNX14	57231	HP:0002120	Cerebral cortical atrophy
OMIM:616354	SNX14	57231	HP:0003487	Babinski sign
OMIM:616354	SNX14	57231	HP:0000998	Hypertrichosis
OMIM:616354	SNX14	57231	HP:0000158	Macroglossia
OMIM:616354	SNX14	57231	HP:0001156	Brachydactyly syndrome
OMIM:616354	SNX14	57231	HP:0001265	Hyporeflexia
OMIM:616354	SNX14	57231	HP:0000729	Autistic behavior
OMIM:616354	SNX14	57231	HP:0001263	Global developmental delay
OMIM:616354	SNX14	57231	HP:0002540	Inability to walk
OMIM:616354	SNX14	57231	HP:0002650	Scoliosis
OMIM:616354	SNX14	57231	HP:0001252	Muscular hypotonia
OMIM:616354	SNX14	57231	HP:0000639	Nystagmus
OMIM:616354	SNX14	57231	HP:0000684	Delayed eruption of teeth
OMIM:616354	SNX14	57231	HP:0012810	Wide nasal base
OMIM:616354	SNX14	57231	HP:0001762	Talipes equinovarus
OMIM:616354	SNX14	57231	HP:0002186	Apraxia
OMIM:616354	SNX14	57231	HP:0000218	High palate
OMIM:616354	SNX14	57231	HP:0012385	Camptodactyly
OMIM:616354	SNX14	57231	HP:0001272	Cerebellar atrophy
OMIM:616354	SNX14	57231	HP:0001321	Cerebellar hypoplasia
OMIM:616354	SNX14	57231	HP:0000678	Dental crowding
OMIM:616354	SNX14	57231	HP:0000286	Epicanthus
OMIM:616354	SNX14	57231	HP:0000343	Long philtrum
OMIM:616354	SNX14	57231	HP:0001257	Spasticity
OMIM:616354	SNX14	57231	HP:0012745	Short palpebral fissure
OMIM:616354	SNX14	57231	HP:0001251	Ataxia
OMIM:616354	SNX14	57231	HP:0004482	Relative macrocephaly
OMIM:616354	SNX14	57231	HP:0011220	Prominent forehead
OMIM:600131	CACNA1H	8912	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:600131	CACNA1H	8912	HP:0002373	Febrile seizures
OMIM:600131	CACNA1H	8912	HP:0002069	Generalized tonic-clonic seizures
OMIM:600131	CACNA1H	8912	HP:0011463	Childhood onset
OMIM:600131	CACNA1H	8912	HP:0000006	Autosomal dominant inheritance
OMIM:600131	CACNA1H	8912	HP:0002392	EEG with polyspike wave complexes
OMIM:600131	CACNA1H	8912	HP:0002121	Absence seizures
OMIM:600131	SLC2A1	6513	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:600131	SLC2A1	6513	HP:0002373	Febrile seizures
OMIM:600131	SLC2A1	6513	HP:0002069	Generalized tonic-clonic seizures
OMIM:600131	SLC2A1	6513	HP:0011463	Childhood onset
OMIM:600131	SLC2A1	6513	HP:0000006	Autosomal dominant inheritance
OMIM:600131	SLC2A1	6513	HP:0002392	EEG with polyspike wave complexes
OMIM:600131	SLC2A1	6513	HP:0002121	Absence seizures
OMIM:600131	GABRB3	2562	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:600131	GABRB3	2562	HP:0002373	Febrile seizures
OMIM:600131	GABRB3	2562	HP:0002069	Generalized tonic-clonic seizures
OMIM:600131	GABRB3	2562	HP:0011463	Childhood onset
OMIM:600131	GABRB3	2562	HP:0000006	Autosomal dominant inheritance
OMIM:600131	GABRB3	2562	HP:0002392	EEG with polyspike wave complexes
OMIM:600131	GABRB3	2562	HP:0002121	Absence seizures
OMIM:600131	JRK	8629	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:600131	JRK	8629	HP:0002373	Febrile seizures
OMIM:600131	JRK	8629	HP:0002069	Generalized tonic-clonic seizures
OMIM:600131	JRK	8629	HP:0011463	Childhood onset
OMIM:600131	JRK	8629	HP:0000006	Autosomal dominant inheritance
OMIM:600131	JRK	8629	HP:0002392	EEG with polyspike wave complexes
OMIM:600131	JRK	8629	HP:0002121	Absence seizures
OMIM:600131	GABRG2	2566	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:600131	GABRG2	2566	HP:0002373	Febrile seizures
OMIM:600131	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:600131	GABRG2	2566	HP:0011463	Childhood onset
OMIM:600131	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:600131	GABRG2	2566	HP:0002392	EEG with polyspike wave complexes
OMIM:600131	GABRG2	2566	HP:0002121	Absence seizures
OMIM:600131	GABRA1	2554	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:600131	GABRA1	2554	HP:0002373	Febrile seizures
OMIM:600131	GABRA1	2554	HP:0002069	Generalized tonic-clonic seizures
OMIM:600131	GABRA1	2554	HP:0011463	Childhood onset
OMIM:600131	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:600131	GABRA1	2554	HP:0002392	EEG with polyspike wave complexes
OMIM:600131	GABRA1	2554	HP:0002121	Absence seizures
OMIM:614102	IGKC	3514	HP:0010701	Abnormal immunoglobulin level
OMIM:614102	IGKC	3514	HP:0002719	Recurrent infections
OMIM:614102	IGKC	3514	HP:0002014	Diarrhea
OMIM:614102	IGKC	3514	HP:0000007	Autosomal recessive inheritance
OMIM:614102	IGHG2	3501	HP:0010701	Abnormal immunoglobulin level
OMIM:614102	IGHG2	3501	HP:0002719	Recurrent infections
OMIM:614102	IGHG2	3501	HP:0002014	Diarrhea
OMIM:614102	IGHG2	3501	HP:0000007	Autosomal recessive inheritance
OMIM:305660	GABRA3	2556	HP:0001417	X-linked inheritance
OMIM:188055	F5	2153	HP:0000006	Autosomal dominant inheritance
OMIM:188055	F5	2153	HP:0003581	Adult onset
OMIM:188055	F5	2153	HP:0100602	Preeclampsia
OMIM:613641	KARS	3735	HP:0001265	Hyporeflexia
OMIM:613641	KARS	3735	HP:0001284	Areflexia
OMIM:613641	KARS	3735	HP:0003376	Steppage gait
OMIM:613641	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:613641	KARS	3735	HP:0009027	Foot dorsiflexor weakness
OMIM:613641	KARS	3735	HP:0002936	Distal sensory impairment
OMIM:613641	KARS	3735	HP:0001761	Pes cavus
OMIM:613641	KARS	3735	HP:0001263	Global developmental delay
OMIM:606854	ADGRG1	9289	HP:0003487	Babinski sign
OMIM:606854	ADGRG1	9289	HP:0001249	Intellectual disability
OMIM:606854	ADGRG1	9289	HP:0000577	Exotropia
OMIM:606854	ADGRG1	9289	HP:0001347	Hyperreflexia
OMIM:606854	ADGRG1	9289	HP:0002365	Hypoplasia of the brainstem
OMIM:606854	ADGRG1	9289	HP:0002078	Truncal ataxia
OMIM:606854	ADGRG1	9289	HP:0000565	Esotropia
OMIM:606854	ADGRG1	9289	HP:0001263	Global developmental delay
OMIM:606854	ADGRG1	9289	HP:0001250	Seizures
OMIM:606854	ADGRG1	9289	HP:0007095	Frontoparietal polymicrogyria
OMIM:606854	ADGRG1	9289	HP:0000639	Nystagmus
OMIM:606854	ADGRG1	9289	HP:0000007	Autosomal recessive inheritance
OMIM:606854	ADGRG1	9289	HP:0001276	Hypertonia
OMIM:606854	ADGRG1	9289	HP:0011448	Ankle clonus
OMIM:606854	ADGRG1	9289	HP:0001321	Cerebellar hypoplasia
OMIM:612943	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:612943	RLBP1	6017	HP:0000980	Pallor
OMIM:612943	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:612943	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:612943	SPATA7	55812	HP:0000980	Pallor
OMIM:612943	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:612943	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:612943	ARL6	84100	HP:0000980	Pallor
OMIM:612943	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:612943	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:612943	CERKL	375298	HP:0000980	Pallor
OMIM:612943	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:612943	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:612943	PRPF31	26121	HP:0000980	Pallor
OMIM:612943	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:612943	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:612943	TTC8	123016	HP:0000980	Pallor
OMIM:612943	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:612943	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:612943	PROM1	8842	HP:0000980	Pallor
OMIM:612943	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:612943	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:612943	LRAT	9227	HP:0000980	Pallor
OMIM:612943	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:612943	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:612943	IFT140	9742	HP:0000980	Pallor
OMIM:612943	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:612943	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:612943	BEST1	7439	HP:0000980	Pallor
OMIM:612943	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:612943	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:612943	NEK2	4751	HP:0000980	Pallor
OMIM:612943	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:612943	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:612943	ARL2BP	23568	HP:0000980	Pallor
OMIM:612943	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:612943	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:612943	NR2E3	10002	HP:0000980	Pallor
OMIM:612943	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:612943	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:612943	EYS	346007	HP:0000980	Pallor
OMIM:612943	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:612943	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:612943	MAK	4117	HP:0000980	Pallor
OMIM:612943	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:612943	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:612943	SAG	6295	HP:0000980	Pallor
OMIM:612943	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:612943	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:612943	ABCA4	24	HP:0000980	Pallor
OMIM:612943	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:612943	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:612943	PDE6A	5145	HP:0000980	Pallor
OMIM:612943	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:612943	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:612943	PDE6G	5148	HP:0000980	Pallor
OMIM:612943	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:612943	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:612943	IMPDH1	3614	HP:0000980	Pallor
OMIM:612943	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:612943	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:612943	OFD1	8481	HP:0000980	Pallor
OMIM:612943	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:612943	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:612943	GUCA1B	2979	HP:0000980	Pallor
OMIM:612943	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:612943	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:612943	NRL	4901	HP:0000980	Pallor
OMIM:612943	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:612943	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:612943	PDE6B	5158	HP:0000980	Pallor
OMIM:612943	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:612943	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:612943	KLHL7	55975	HP:0000980	Pallor
OMIM:612943	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:612943	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:612943	PRPF4	9128	HP:0000980	Pallor
OMIM:612943	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:612943	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:612943	PRPF3	9129	HP:0000980	Pallor
OMIM:612943	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:612943	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:612943	FAM161A	84140	HP:0000980	Pallor
OMIM:612943	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:612943	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:612943	IFT172	26160	HP:0000980	Pallor
OMIM:612943	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:612943	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:612943	KIZ	55857	HP:0000980	Pallor
OMIM:612943	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:612943	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:612943	CDHR1	92211	HP:0000980	Pallor
OMIM:612943	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:612943	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:612943	ZNF408	79797	HP:0000980	Pallor
OMIM:612943	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:612943	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:612943	RBP3	5949	HP:0000980	Pallor
OMIM:612943	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:612943	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:612943	HGSNAT	138050	HP:0000980	Pallor
OMIM:612943	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:612943	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:612943	FSCN2	25794	HP:0000980	Pallor
OMIM:612943	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:612943	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:612943	PRCD	768206	HP:0000980	Pallor
OMIM:612943	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:612943	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:612943	BBS2	583	HP:0000980	Pallor
OMIM:612943	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:612943	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:612943	RDH12	145226	HP:0000980	Pallor
OMIM:612943	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:612943	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:612943	PRPH2	5961	HP:0000980	Pallor
OMIM:612943	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:612943	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:612943	DHDDS	79947	HP:0000980	Pallor
OMIM:612943	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:612943	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:612943	ROM1	6094	HP:0000980	Pallor
OMIM:612943	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:612943	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:612943	C2ORF71	388939	HP:0000980	Pallor
OMIM:612943	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:612943	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:612943	RP9	6100	HP:0000980	Pallor
OMIM:612943	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:612943	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:612943	PRPF6	24148	HP:0000980	Pallor
OMIM:612943	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:612943	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:612943	RP1	6101	HP:0000980	Pallor
OMIM:612943	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:612943	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:612943	RP2	6102	HP:0000980	Pallor
OMIM:612943	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:612943	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:612943	RPGR	6103	HP:0000980	Pallor
OMIM:612943	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:612943	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:612943	SEMA4A	64218	HP:0000980	Pallor
OMIM:612943	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:612943	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:612943	C8ORF37	157657	HP:0000980	Pallor
OMIM:612943	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:612943	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:612943	IDH3B	3420	HP:0000980	Pallor
OMIM:612943	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:612943	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:612943	MERTK	10461	HP:0000980	Pallor
OMIM:612943	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:612943	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:612943	PRPF8	10594	HP:0000980	Pallor
OMIM:612943	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:612943	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:612943	TOPORS	10210	HP:0000980	Pallor
OMIM:612943	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:612943	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:612943	USH2A	7399	HP:0000980	Pallor
OMIM:612943	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:612943	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:612943	RPE65	6121	HP:0000980	Pallor
OMIM:612943	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:612943	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:612943	CLRN1	7401	HP:0000980	Pallor
OMIM:612943	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:612943	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:612943	CNGB1	1258	HP:0000980	Pallor
OMIM:612943	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:612943	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:612943	RGR	5995	HP:0000980	Pallor
OMIM:612943	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:612943	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:612943	CNGA1	1259	HP:0000980	Pallor
OMIM:612943	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:612943	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:612943	TUB	7275	HP:0000980	Pallor
OMIM:612943	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:612943	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:612943	SNRNP200	23020	HP:0000980	Pallor
OMIM:612943	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:612943	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:612943	SLC7A14	57709	HP:0000980	Pallor
OMIM:612943	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:612943	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:612943	TULP1	7287	HP:0000980	Pallor
OMIM:612943	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:612943	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:612943	RHO	6010	HP:0000980	Pallor
OMIM:612943	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:612943	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:612943	CA4	762	HP:0000980	Pallor
OMIM:612943	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:612943	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:612943	CRB1	23418	HP:0000980	Pallor
OMIM:612943	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:612943	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:612943	IMPG2	50939	HP:0000980	Pallor
OMIM:612943	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:612943	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:612943	ZNF513	130557	HP:0000980	Pallor
OMIM:612943	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:612943	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:612943	CRX	1406	HP:0000980	Pallor
OMIM:612943	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:300716	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300716	ZNF711	7552	HP:0000750	Delayed speech and language development
OMIM:300716	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300716	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300716	IL1RAPL1	11141	HP:0000750	Delayed speech and language development
OMIM:300716	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300716	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300716	ACSL4	2182	HP:0000750	Delayed speech and language development
OMIM:300716	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300716	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300716	PAK3	5063	HP:0000750	Delayed speech and language development
OMIM:300716	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300716	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300716	SYP	6855	HP:0000750	Delayed speech and language development
OMIM:300716	SYP	6855	HP:0001249	Intellectual disability
OMIM:300716	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300716	FTSJ1	24140	HP:0000750	Delayed speech and language development
OMIM:300716	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300716	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300716	DLG3	1741	HP:0000750	Delayed speech and language development
OMIM:300716	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300716	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300716	PTCHD1	139411	HP:0000750	Delayed speech and language development
OMIM:300716	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300716	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300716	UPF3B	65109	HP:0000750	Delayed speech and language development
OMIM:300716	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300716	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300716	ZNF81	347344	HP:0000750	Delayed speech and language development
OMIM:300716	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300716	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300716	RAB39B	116442	HP:0000750	Delayed speech and language development
OMIM:300716	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300716	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300716	DMD	1756	HP:0000750	Delayed speech and language development
OMIM:300716	DMD	1756	HP:0001249	Intellectual disability
OMIM:300716	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300716	MAGT1	84061	HP:0000750	Delayed speech and language development
OMIM:300716	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300716	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300716	MID2	11043	HP:0000750	Delayed speech and language development
OMIM:300716	MID2	11043	HP:0001249	Intellectual disability
OMIM:300716	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300716	GDI1	2664	HP:0000750	Delayed speech and language development
OMIM:300716	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300716	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300716	ZNF41	7592	HP:0000750	Delayed speech and language development
OMIM:300716	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300716	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300716	MECP2	4204	HP:0000750	Delayed speech and language development
OMIM:300716	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300716	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300716	HCFC1	3054	HP:0000750	Delayed speech and language development
OMIM:300716	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300716	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300716	USP9X	8239	HP:0000750	Delayed speech and language development
OMIM:300716	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300716	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300716	MED12	9968	HP:0000750	Delayed speech and language development
OMIM:300716	MED12	9968	HP:0001249	Intellectual disability
OMIM:300716	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300716	ZNF674	641339	HP:0000750	Delayed speech and language development
OMIM:300716	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300716	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300716	ARHGEF6	9459	HP:0000750	Delayed speech and language development
OMIM:300716	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300716	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300716	RPS6KA3	6197	HP:0000750	Delayed speech and language development
OMIM:300716	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300716	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300716	IQSEC2	23096	HP:0000750	Delayed speech and language development
OMIM:300716	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300716	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300716	AGTR2	186	HP:0000750	Delayed speech and language development
OMIM:300716	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300716	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300716	ARX	170302	HP:0000750	Delayed speech and language development
OMIM:300716	ARX	170302	HP:0001249	Intellectual disability
OMIM:300716	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300716	ALG13	79868	HP:0000750	Delayed speech and language development
OMIM:300716	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300716	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:300716	TSPAN7	7102	HP:0000750	Delayed speech and language development
OMIM:300716	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:616166	TGFB2	7042	HP:0000768	Pectus carinatum
OMIM:616166	TGFB2	7042	HP:0005110	Atrial fibrillation
OMIM:616166	TGFB2	7042	HP:0001166	Arachnodactyly
OMIM:616166	TGFB2	7042	HP:0001634	Mitral valve prolapse
OMIM:616166	TGFB2	7042	HP:0000218	High palate
OMIM:616166	TGFB2	7042	HP:0000767	Pectus excavatum
OMIM:616166	TGFB2	7042	HP:0012727	Thoracic aortic aneurysm
OMIM:616166	MYH11	4629	HP:0000768	Pectus carinatum
OMIM:616166	MYH11	4629	HP:0005110	Atrial fibrillation
OMIM:616166	MYH11	4629	HP:0001166	Arachnodactyly
OMIM:616166	MYH11	4629	HP:0001634	Mitral valve prolapse
OMIM:616166	MYH11	4629	HP:0000218	High palate
OMIM:616166	MYH11	4629	HP:0000767	Pectus excavatum
OMIM:616166	MYH11	4629	HP:0012727	Thoracic aortic aneurysm
OMIM:616166	TGFBR1	7046	HP:0000768	Pectus carinatum
OMIM:616166	TGFBR1	7046	HP:0005110	Atrial fibrillation
OMIM:616166	TGFBR1	7046	HP:0001166	Arachnodactyly
OMIM:616166	TGFBR1	7046	HP:0001634	Mitral valve prolapse
OMIM:616166	TGFBR1	7046	HP:0000218	High palate
OMIM:616166	TGFBR1	7046	HP:0000767	Pectus excavatum
OMIM:616166	TGFBR1	7046	HP:0012727	Thoracic aortic aneurysm
OMIM:616166	TGFBR2	7048	HP:0000768	Pectus carinatum
OMIM:616166	TGFBR2	7048	HP:0005110	Atrial fibrillation
OMIM:616166	TGFBR2	7048	HP:0001166	Arachnodactyly
OMIM:616166	TGFBR2	7048	HP:0001634	Mitral valve prolapse
OMIM:616166	TGFBR2	7048	HP:0000218	High palate
OMIM:616166	TGFBR2	7048	HP:0000767	Pectus excavatum
OMIM:616166	TGFBR2	7048	HP:0012727	Thoracic aortic aneurysm
OMIM:616166	FBN1	2200	HP:0000768	Pectus carinatum
OMIM:616166	FBN1	2200	HP:0005110	Atrial fibrillation
OMIM:616166	FBN1	2200	HP:0001166	Arachnodactyly
OMIM:616166	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:616166	FBN1	2200	HP:0000218	High palate
OMIM:616166	FBN1	2200	HP:0000767	Pectus excavatum
OMIM:616166	FBN1	2200	HP:0012727	Thoracic aortic aneurysm
OMIM:616166	SMAD3	4088	HP:0000768	Pectus carinatum
OMIM:616166	SMAD3	4088	HP:0005110	Atrial fibrillation
OMIM:616166	SMAD3	4088	HP:0001166	Arachnodactyly
OMIM:616166	SMAD3	4088	HP:0001634	Mitral valve prolapse
OMIM:616166	SMAD3	4088	HP:0000218	High palate
OMIM:616166	SMAD3	4088	HP:0000767	Pectus excavatum
OMIM:616166	SMAD3	4088	HP:0012727	Thoracic aortic aneurysm
OMIM:616166	PRKG1	5592	HP:0000768	Pectus carinatum
OMIM:616166	PRKG1	5592	HP:0005110	Atrial fibrillation
OMIM:616166	PRKG1	5592	HP:0001166	Arachnodactyly
OMIM:616166	PRKG1	5592	HP:0001634	Mitral valve prolapse
OMIM:616166	PRKG1	5592	HP:0000218	High palate
OMIM:616166	PRKG1	5592	HP:0000767	Pectus excavatum
OMIM:616166	PRKG1	5592	HP:0012727	Thoracic aortic aneurysm
OMIM:616166	ACTA2	59	HP:0000768	Pectus carinatum
OMIM:616166	ACTA2	59	HP:0005110	Atrial fibrillation
OMIM:616166	ACTA2	59	HP:0001166	Arachnodactyly
OMIM:616166	ACTA2	59	HP:0001634	Mitral valve prolapse
OMIM:616166	ACTA2	59	HP:0000218	High palate
OMIM:616166	ACTA2	59	HP:0000767	Pectus excavatum
OMIM:616166	ACTA2	59	HP:0012727	Thoracic aortic aneurysm
OMIM:616166	MFAP5	8076	HP:0000768	Pectus carinatum
OMIM:616166	MFAP5	8076	HP:0005110	Atrial fibrillation
OMIM:616166	MFAP5	8076	HP:0001166	Arachnodactyly
OMIM:616166	MFAP5	8076	HP:0001634	Mitral valve prolapse
OMIM:616166	MFAP5	8076	HP:0000218	High palate
OMIM:616166	MFAP5	8076	HP:0000767	Pectus excavatum
OMIM:616166	MFAP5	8076	HP:0012727	Thoracic aortic aneurysm
OMIM:616166	MYLK	4638	HP:0000768	Pectus carinatum
OMIM:616166	MYLK	4638	HP:0005110	Atrial fibrillation
OMIM:616166	MYLK	4638	HP:0001166	Arachnodactyly
OMIM:616166	MYLK	4638	HP:0001634	Mitral valve prolapse
OMIM:616166	MYLK	4638	HP:0000218	High palate
OMIM:616166	MYLK	4638	HP:0000767	Pectus excavatum
OMIM:616166	MYLK	4638	HP:0012727	Thoracic aortic aneurysm
OMIM:108120	TNNI2	7136	HP:0002650	Scoliosis
OMIM:108120	TNNI2	7136	HP:0001762	Talipes equinovarus
OMIM:108120	TNNI2	7136	HP:0000028	Cryptorchidism
OMIM:108120	TNNI2	7136	HP:0001374	Congenital hip dislocation
OMIM:108120	TNNI2	7136	HP:0000954	Single transverse palmar crease
OMIM:108120	TNNI2	7136	HP:0006380	Knee flexion contracture
OMIM:108120	TNNI2	7136	HP:0003273	Hip contracture
OMIM:108120	TNNI2	7136	HP:0009473	Joint contracture of the hand
OMIM:108120	TNNI2	7136	HP:0000006	Autosomal dominant inheritance
OMIM:108120	TNNI2	7136	HP:0002804	Arthrogryposis multiplex congenita
OMIM:108120	TNNI2	7136	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:108120	TNNI2	7136	HP:0001838	Rocker bottom foot
OMIM:108120	TNNI2	7136	HP:0001032	Absent distal interphalangeal creases
OMIM:108120	TNNI2	7136	HP:0002987	Elbow flexion contracture
OMIM:108120	TNNI2	7136	HP:0001181	Adducted thumb
OMIM:108120	TPM2	7169	HP:0002650	Scoliosis
OMIM:108120	TPM2	7169	HP:0001762	Talipes equinovarus
OMIM:108120	TPM2	7169	HP:0000028	Cryptorchidism
OMIM:108120	TPM2	7169	HP:0001374	Congenital hip dislocation
OMIM:108120	TPM2	7169	HP:0000954	Single transverse palmar crease
OMIM:108120	TPM2	7169	HP:0006380	Knee flexion contracture
OMIM:108120	TPM2	7169	HP:0003273	Hip contracture
OMIM:108120	TPM2	7169	HP:0009473	Joint contracture of the hand
OMIM:108120	TPM2	7169	HP:0000006	Autosomal dominant inheritance
OMIM:108120	TPM2	7169	HP:0002804	Arthrogryposis multiplex congenita
OMIM:108120	TPM2	7169	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:108120	TPM2	7169	HP:0001838	Rocker bottom foot
OMIM:108120	TPM2	7169	HP:0001032	Absent distal interphalangeal creases
OMIM:108120	TPM2	7169	HP:0002987	Elbow flexion contracture
OMIM:108120	TPM2	7169	HP:0001181	Adducted thumb
OMIM:108120	TNNT3	7140	HP:0002650	Scoliosis
OMIM:108120	TNNT3	7140	HP:0001762	Talipes equinovarus
OMIM:108120	TNNT3	7140	HP:0000028	Cryptorchidism
OMIM:108120	TNNT3	7140	HP:0001374	Congenital hip dislocation
OMIM:108120	TNNT3	7140	HP:0000954	Single transverse palmar crease
OMIM:108120	TNNT3	7140	HP:0006380	Knee flexion contracture
OMIM:108120	TNNT3	7140	HP:0003273	Hip contracture
OMIM:108120	TNNT3	7140	HP:0009473	Joint contracture of the hand
OMIM:108120	TNNT3	7140	HP:0000006	Autosomal dominant inheritance
OMIM:108120	TNNT3	7140	HP:0002804	Arthrogryposis multiplex congenita
OMIM:108120	TNNT3	7140	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:108120	TNNT3	7140	HP:0001838	Rocker bottom foot
OMIM:108120	TNNT3	7140	HP:0001032	Absent distal interphalangeal creases
OMIM:108120	TNNT3	7140	HP:0002987	Elbow flexion contracture
OMIM:108120	TNNT3	7140	HP:0001181	Adducted thumb
OMIM:108120	MYBPC1	4604	HP:0002650	Scoliosis
OMIM:108120	MYBPC1	4604	HP:0001762	Talipes equinovarus
OMIM:108120	MYBPC1	4604	HP:0000028	Cryptorchidism
OMIM:108120	MYBPC1	4604	HP:0001374	Congenital hip dislocation
OMIM:108120	MYBPC1	4604	HP:0000954	Single transverse palmar crease
OMIM:108120	MYBPC1	4604	HP:0006380	Knee flexion contracture
OMIM:108120	MYBPC1	4604	HP:0003273	Hip contracture
OMIM:108120	MYBPC1	4604	HP:0009473	Joint contracture of the hand
OMIM:108120	MYBPC1	4604	HP:0000006	Autosomal dominant inheritance
OMIM:108120	MYBPC1	4604	HP:0002804	Arthrogryposis multiplex congenita
OMIM:108120	MYBPC1	4604	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:108120	MYBPC1	4604	HP:0001838	Rocker bottom foot
OMIM:108120	MYBPC1	4604	HP:0001032	Absent distal interphalangeal creases
OMIM:108120	MYBPC1	4604	HP:0002987	Elbow flexion contracture
OMIM:108120	MYBPC1	4604	HP:0001181	Adducted thumb
OMIM:108120	MYH3	4621	HP:0002650	Scoliosis
OMIM:108120	MYH3	4621	HP:0001762	Talipes equinovarus
OMIM:108120	MYH3	4621	HP:0000028	Cryptorchidism
OMIM:108120	MYH3	4621	HP:0001374	Congenital hip dislocation
OMIM:108120	MYH3	4621	HP:0000954	Single transverse palmar crease
OMIM:108120	MYH3	4621	HP:0006380	Knee flexion contracture
OMIM:108120	MYH3	4621	HP:0003273	Hip contracture
OMIM:108120	MYH3	4621	HP:0009473	Joint contracture of the hand
OMIM:108120	MYH3	4621	HP:0000006	Autosomal dominant inheritance
OMIM:108120	MYH3	4621	HP:0002804	Arthrogryposis multiplex congenita
OMIM:108120	MYH3	4621	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:108120	MYH3	4621	HP:0001838	Rocker bottom foot
OMIM:108120	MYH3	4621	HP:0001032	Absent distal interphalangeal creases
OMIM:108120	MYH3	4621	HP:0002987	Elbow flexion contracture
OMIM:108120	MYH3	4621	HP:0001181	Adducted thumb
OMIM:613177	LTBP4	8425	HP:0002020	Gastroesophageal reflux
OMIM:613177	LTBP4	8425	HP:0000023	Inguinal hernia
OMIM:613177	LTBP4	8425	HP:0001852	Sandal gap
OMIM:613177	LTBP4	8425	HP:0002035	Rectal prolapse
OMIM:613177	LTBP4	8425	HP:0040199	Flat midface
OMIM:613177	LTBP4	8425	HP:0002021	Pyloric stenosis
OMIM:613177	LTBP4	8425	HP:0002780	Bronchomalacia
OMIM:613177	LTBP4	8425	HP:0000272	Malar flattening
OMIM:613177	LTBP4	8425	HP:0000015	Bladder diverticulum
OMIM:613177	LTBP4	8425	HP:0002779	Tracheomalacia
OMIM:613177	LTBP4	8425	HP:0000278	Retrognathia
OMIM:613177	LTBP4	8425	HP:0000316	Hypertelorism
OMIM:613177	LTBP4	8425	HP:0001388	Joint laxity
OMIM:613177	LTBP4	8425	HP:0000973	Cutis laxa
OMIM:613177	LTBP4	8425	HP:0002089	Pulmonary hypoplasia
OMIM:613177	LTBP4	8425	HP:0000343	Long philtrum
OMIM:613177	LTBP4	8425	HP:0000007	Autosomal recessive inheritance
OMIM:613177	LTBP4	8425	HP:0000126	Hydronephrosis
OMIM:613177	LTBP4	8425	HP:0000340	Sloping forehead
OMIM:613177	LTBP4	8425	HP:0004415	Pulmonary artery stenosis
OMIM:613177	LTBP4	8425	HP:0001655	Patent foramen ovale
OMIM:613177	LTBP4	8425	HP:0000431	Wide nasal bridge
OMIM:613177	LTBP4	8425	HP:0001601	Laryngomalacia
OMIM:613177	LTBP4	8425	HP:0002097	Emphysema
OMIM:613177	LTBP4	8425	HP:0000347	Micrognathia
OMIM:613177	LTBP4	8425	HP:0001537	Umbilical hernia
OMIM:230650	GLB1	2720	HP:0004322	Short stature
OMIM:230650	GLB1	2720	HP:0001332	Dystonia
OMIM:230650	GLB1	2720	HP:0001256	Intellectual disability, mild
OMIM:230650	GLB1	2720	HP:0000007	Autosomal recessive inheritance
OMIM:230650	GLB1	2720	HP:0002869	Flared iliac wings
OMIM:230650	GLB1	2720	HP:0003202	Skeletal muscle atrophy
OMIM:230650	GLB1	2720	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:230650	GLB1	2720	HP:0007759	Opacification of the corneal stroma
OMIM:230650	GLB1	2720	HP:0000926	Platyspondyly
OMIM:230650	GLB1	2720	HP:0002808	Kyphosis
OMIM:230650	GLB1	2720	HP:0002650	Scoliosis
OMIM:230650	GLB1	2720	HP:0000271	Abnormality of the face
OMIM:110100	FOXL2	668	HP:0005280	Depressed nasal bridge
OMIM:110100	FOXL2	668	HP:0000286	Epicanthus
OMIM:110100	FOXL2	668	HP:0000639	Nystagmus
OMIM:110100	FOXL2	668	HP:0000581	Blepharophimosis
OMIM:110100	FOXL2	668	HP:0000218	High palate
OMIM:110100	FOXL2	668	HP:0000486	Strabismus
OMIM:110100	FOXL2	668	HP:0000632	Lacrimation abnormality
OMIM:110100	FOXL2	668	HP:0000508	Ptosis
OMIM:110100	FOXL2	668	HP:0000545	Myopia
OMIM:110100	FOXL2	668	HP:0000141	Amenorrhea
OMIM:110100	FOXL2	668	HP:0000482	Microcornea
OMIM:110100	FOXL2	668	HP:0000664	Synophrys
OMIM:110100	FOXL2	668	HP:0000540	Hypermetropia
OMIM:110100	FOXL2	668	HP:0000006	Autosomal dominant inheritance
OMIM:110100	FOXL2	668	HP:0000769	Abnormality of the breast
OMIM:110100	FOXL2	668	HP:0000378	Cupped ear
OMIM:110100	FOXL2	668	HP:0000568	Microphthalmia
OMIM:110100	FOXL2	668	HP:0001595	Abnormality of the hair
OMIM:110100	FOXL2	668	HP:0000506	Telecanthus
OMIM:110100	FOXL2	668	HP:0000144	Decreased fertility
OMIM:110100	FOXL2	668	HP:0000431	Wide nasal bridge
OMIM:616491	NAGLU	4669	HP:0001265	Hyporeflexia
OMIM:616491	NAGLU	4669	HP:0002936	Distal sensory impairment
OMIM:615721	FGF20	26281	HP:0001582	Redundant skin
OMIM:615721	FGF20	26281	HP:0000007	Autosomal recessive inheritance
OMIM:615721	FGF20	26281	HP:0002089	Pulmonary hypoplasia
OMIM:615721	FGF20	26281	HP:0002009	Potter facies
OMIM:603278	ACTN4	81	HP:0000097	Focal segmental glomerulosclerosis
OMIM:603278	ACTN4	81	HP:0003073	Hypoalbuminemia
OMIM:603278	ACTN4	81	HP:0000969	Edema
OMIM:603278	ACTN4	81	HP:0000093	Proteinuria
OMIM:603278	ACTN4	81	HP:0003077	Hyperlipidemia
OMIM:614935	DNAAF2	55172	HP:0012263	Immotile cilia
OMIM:614935	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:614935	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:614935	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:614935	DNAAF2	55172	HP:0011108	Recurrent sinusitis
OMIM:614935	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:614935	CCNO	10309	HP:0012263	Immotile cilia
OMIM:614935	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:614935	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:614935	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:614935	CCNO	10309	HP:0011108	Recurrent sinusitis
OMIM:614935	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:614935	DNAAF5	54919	HP:0012263	Immotile cilia
OMIM:614935	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:614935	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:614935	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:614935	DNAAF5	54919	HP:0011108	Recurrent sinusitis
OMIM:614935	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:614935	DNAAF3	352909	HP:0012263	Immotile cilia
OMIM:614935	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:614935	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:614935	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:614935	DNAAF3	352909	HP:0011108	Recurrent sinusitis
OMIM:614935	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:614935	DNAI1	27019	HP:0012263	Immotile cilia
OMIM:614935	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:614935	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:614935	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:614935	DNAI1	27019	HP:0011108	Recurrent sinusitis
OMIM:614935	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:614935	DRC1	92749	HP:0012263	Immotile cilia
OMIM:614935	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:614935	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:614935	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:614935	DRC1	92749	HP:0011108	Recurrent sinusitis
OMIM:614935	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:614935	SPAG1	6674	HP:0012263	Immotile cilia
OMIM:614935	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:614935	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:614935	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:614935	SPAG1	6674	HP:0011108	Recurrent sinusitis
OMIM:614935	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:614935	RSPH3	83861	HP:0012263	Immotile cilia
OMIM:614935	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:614935	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:614935	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:614935	RSPH3	83861	HP:0011108	Recurrent sinusitis
OMIM:614935	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:614935	LRRC6	23639	HP:0012263	Immotile cilia
OMIM:614935	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:614935	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:614935	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:614935	LRRC6	23639	HP:0011108	Recurrent sinusitis
OMIM:614935	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:614935	RPGR	6103	HP:0012263	Immotile cilia
OMIM:614935	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:614935	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:614935	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:614935	RPGR	6103	HP:0011108	Recurrent sinusitis
OMIM:614935	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:614935	DNAL1	83544	HP:0012263	Immotile cilia
OMIM:614935	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:614935	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:614935	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:614935	DNAL1	83544	HP:0011108	Recurrent sinusitis
OMIM:614935	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:614935	ARMC4	55130	HP:0012263	Immotile cilia
OMIM:614935	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:614935	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:614935	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:614935	ARMC4	55130	HP:0011108	Recurrent sinusitis
OMIM:614935	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:614935	CCDC103	388389	HP:0012263	Immotile cilia
OMIM:614935	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:614935	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:614935	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:614935	CCDC103	388389	HP:0011108	Recurrent sinusitis
OMIM:614935	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:614935	OFD1	8481	HP:0012263	Immotile cilia
OMIM:614935	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:614935	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:614935	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:614935	OFD1	8481	HP:0011108	Recurrent sinusitis
OMIM:614935	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:614935	DNAAF1	123872	HP:0012263	Immotile cilia
OMIM:614935	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:614935	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:614935	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:614935	DNAAF1	123872	HP:0011108	Recurrent sinusitis
OMIM:614935	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:614935	RSPH4A	345895	HP:0012263	Immotile cilia
OMIM:614935	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:614935	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:614935	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:614935	RSPH4A	345895	HP:0011108	Recurrent sinusitis
OMIM:614935	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:614935	RSPH1	89765	HP:0012263	Immotile cilia
OMIM:614935	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:614935	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:614935	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:614935	RSPH1	89765	HP:0011108	Recurrent sinusitis
OMIM:614935	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:614935	ZMYND10	51364	HP:0012263	Immotile cilia
OMIM:614935	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:614935	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:614935	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:614935	ZMYND10	51364	HP:0011108	Recurrent sinusitis
OMIM:614935	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:614935	DNAH5	1767	HP:0012263	Immotile cilia
OMIM:614935	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:614935	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:614935	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:614935	DNAH5	1767	HP:0011108	Recurrent sinusitis
OMIM:614935	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:614935	CCDC65	85478	HP:0012263	Immotile cilia
OMIM:614935	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:614935	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:614935	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:614935	CCDC65	85478	HP:0011108	Recurrent sinusitis
OMIM:614935	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:614935	C21ORF59	56683	HP:0012263	Immotile cilia
OMIM:614935	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:614935	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:614935	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:614935	C21ORF59	56683	HP:0011108	Recurrent sinusitis
OMIM:614935	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:614935	DYX1C1	161582	HP:0012263	Immotile cilia
OMIM:614935	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:614935	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:614935	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:614935	DYX1C1	161582	HP:0011108	Recurrent sinusitis
OMIM:614935	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:614935	CCDC151	115948	HP:0012263	Immotile cilia
OMIM:614935	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:614935	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:614935	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:614935	CCDC151	115948	HP:0011108	Recurrent sinusitis
OMIM:614935	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:614935	RSPH9	221421	HP:0012263	Immotile cilia
OMIM:614935	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:614935	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:614935	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:614935	RSPH9	221421	HP:0011108	Recurrent sinusitis
OMIM:614935	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:614935	CCDC39	339829	HP:0012263	Immotile cilia
OMIM:614935	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:614935	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:614935	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:614935	CCDC39	339829	HP:0011108	Recurrent sinusitis
OMIM:614935	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:614935	HYDIN	54768	HP:0012263	Immotile cilia
OMIM:614935	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:614935	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:614935	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:614935	HYDIN	54768	HP:0011108	Recurrent sinusitis
OMIM:614935	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:614935	CCDC114	93233	HP:0012263	Immotile cilia
OMIM:614935	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:614935	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:614935	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:614935	CCDC114	93233	HP:0011108	Recurrent sinusitis
OMIM:614935	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:614935	NME8	51314	HP:0012263	Immotile cilia
OMIM:614935	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:614935	NME8	51314	HP:0002110	Bronchiectasis
OMIM:614935	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:614935	NME8	51314	HP:0011108	Recurrent sinusitis
OMIM:614935	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:614935	CCDC40	55036	HP:0012263	Immotile cilia
OMIM:614935	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:614935	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:614935	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:614935	CCDC40	55036	HP:0011108	Recurrent sinusitis
OMIM:614935	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:614935	DNAH11	8701	HP:0012263	Immotile cilia
OMIM:614935	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:614935	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:614935	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:614935	DNAH11	8701	HP:0011108	Recurrent sinusitis
OMIM:614935	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:614935	DNAI2	64446	HP:0012263	Immotile cilia
OMIM:614935	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:614935	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:614935	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:614935	DNAI2	64446	HP:0011108	Recurrent sinusitis
OMIM:614935	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:614935	GAS8	2622	HP:0012263	Immotile cilia
OMIM:614935	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:614935	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:614935	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:614935	GAS8	2622	HP:0011108	Recurrent sinusitis
OMIM:614935	GAS8	2622	HP:0000007	Autosomal recessive inheritance
ORPHANET:1466	ERCC1	2067	HP:0000518	Cataract
ORPHANET:1466	ERCC1	2067	HP:0100490	Camptodactyly of finger
ORPHANET:1466	ERCC1	2067	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1466	ERCC1	2067	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:1466	ERCC1	2067	HP:0000505	Visual impairment
ORPHANET:1466	ERCC1	2067	HP:0000347	Micrognathia
ORPHANET:1466	ERCC1	2067	HP:0002514	Cerebral calcification
ORPHANET:1466	ERCC1	2067	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1466	ERCC1	2067	HP:0000431	Wide nasal bridge
ORPHANET:1466	ERCC1	2067	HP:0000078	Abnormality of the genital system
ORPHANET:1466	ERCC1	2067	HP:0000365	Hearing impairment
ORPHANET:1466	ERCC1	2067	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:1466	ERCC1	2067	HP:0000470	Short neck
ORPHANET:1466	ERCC1	2067	HP:0001250	Seizures
ORPHANET:1466	ERCC1	2067	HP:0001252	Muscular hypotonia
ORPHANET:1466	ERCC1	2067	HP:0100543	Cognitive impairment
ORPHANET:1466	ERCC1	2067	HP:0001511	Intrauterine growth retardation
ORPHANET:1466	ERCC1	2067	HP:0000648	Optic atrophy
ORPHANET:1466	ERCC1	2067	HP:0001315	Reduced tendon reflexes
ORPHANET:1466	ERCC1	2067	HP:0000232	Everted lower lip vermilion
ORPHANET:1466	ERCC1	2067	HP:0001376	Limitation of joint mobility
ORPHANET:1466	ERCC1	2067	HP:0000233	Thin vermilion border
ORPHANET:1466	ERCC1	2067	HP:0001883	Talipes
ORPHANET:1466	ERCC1	2067	HP:0009830	Peripheral neuropathy
ORPHANET:1466	ERCC1	2067	HP:0005105	Abnormal nasal morphology
ORPHANET:1466	ERCC1	2067	HP:0010978	Abnormality of immune system physiology
ORPHANET:1466	ERCC1	2067	HP:0002120	Cerebral cortical atrophy
ORPHANET:1466	ERCC1	2067	HP:0004322	Short stature
ORPHANET:1466	ERCC1	2067	HP:0000252	Microcephaly
ORPHANET:1466	ERCC1	2067	HP:0000992	Cutaneous photosensitivity
ORPHANET:1466	ERCC1	2067	HP:0001276	Hypertonia
ORPHANET:1466	ERCC2	2068	HP:0000518	Cataract
ORPHANET:1466	ERCC2	2068	HP:0100490	Camptodactyly of finger
ORPHANET:1466	ERCC2	2068	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1466	ERCC2	2068	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:1466	ERCC2	2068	HP:0000505	Visual impairment
ORPHANET:1466	ERCC2	2068	HP:0000347	Micrognathia
ORPHANET:1466	ERCC2	2068	HP:0002514	Cerebral calcification
ORPHANET:1466	ERCC2	2068	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1466	ERCC2	2068	HP:0000431	Wide nasal bridge
ORPHANET:1466	ERCC2	2068	HP:0000078	Abnormality of the genital system
ORPHANET:1466	ERCC2	2068	HP:0000365	Hearing impairment
ORPHANET:1466	ERCC2	2068	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:1466	ERCC2	2068	HP:0000470	Short neck
ORPHANET:1466	ERCC2	2068	HP:0001250	Seizures
ORPHANET:1466	ERCC2	2068	HP:0001252	Muscular hypotonia
ORPHANET:1466	ERCC2	2068	HP:0100543	Cognitive impairment
ORPHANET:1466	ERCC2	2068	HP:0001511	Intrauterine growth retardation
ORPHANET:1466	ERCC2	2068	HP:0000648	Optic atrophy
ORPHANET:1466	ERCC2	2068	HP:0001315	Reduced tendon reflexes
ORPHANET:1466	ERCC2	2068	HP:0000232	Everted lower lip vermilion
ORPHANET:1466	ERCC2	2068	HP:0001376	Limitation of joint mobility
ORPHANET:1466	ERCC2	2068	HP:0000233	Thin vermilion border
ORPHANET:1466	ERCC2	2068	HP:0001883	Talipes
ORPHANET:1466	ERCC2	2068	HP:0009830	Peripheral neuropathy
ORPHANET:1466	ERCC2	2068	HP:0005105	Abnormal nasal morphology
ORPHANET:1466	ERCC2	2068	HP:0010978	Abnormality of immune system physiology
ORPHANET:1466	ERCC2	2068	HP:0002120	Cerebral cortical atrophy
ORPHANET:1466	ERCC2	2068	HP:0004322	Short stature
ORPHANET:1466	ERCC2	2068	HP:0000252	Microcephaly
ORPHANET:1466	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
ORPHANET:1466	ERCC2	2068	HP:0001276	Hypertonia
ORPHANET:1466	ERCC5	2073	HP:0000518	Cataract
ORPHANET:1466	ERCC5	2073	HP:0100490	Camptodactyly of finger
ORPHANET:1466	ERCC5	2073	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1466	ERCC5	2073	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:1466	ERCC5	2073	HP:0000505	Visual impairment
ORPHANET:1466	ERCC5	2073	HP:0000347	Micrognathia
ORPHANET:1466	ERCC5	2073	HP:0002514	Cerebral calcification
ORPHANET:1466	ERCC5	2073	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1466	ERCC5	2073	HP:0000431	Wide nasal bridge
ORPHANET:1466	ERCC5	2073	HP:0000078	Abnormality of the genital system
ORPHANET:1466	ERCC5	2073	HP:0000365	Hearing impairment
ORPHANET:1466	ERCC5	2073	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:1466	ERCC5	2073	HP:0000470	Short neck
ORPHANET:1466	ERCC5	2073	HP:0001250	Seizures
ORPHANET:1466	ERCC5	2073	HP:0001252	Muscular hypotonia
ORPHANET:1466	ERCC5	2073	HP:0100543	Cognitive impairment
ORPHANET:1466	ERCC5	2073	HP:0001511	Intrauterine growth retardation
ORPHANET:1466	ERCC5	2073	HP:0000648	Optic atrophy
ORPHANET:1466	ERCC5	2073	HP:0001315	Reduced tendon reflexes
ORPHANET:1466	ERCC5	2073	HP:0000232	Everted lower lip vermilion
ORPHANET:1466	ERCC5	2073	HP:0001376	Limitation of joint mobility
ORPHANET:1466	ERCC5	2073	HP:0000233	Thin vermilion border
ORPHANET:1466	ERCC5	2073	HP:0001883	Talipes
ORPHANET:1466	ERCC5	2073	HP:0009830	Peripheral neuropathy
ORPHANET:1466	ERCC5	2073	HP:0005105	Abnormal nasal morphology
ORPHANET:1466	ERCC5	2073	HP:0010978	Abnormality of immune system physiology
ORPHANET:1466	ERCC5	2073	HP:0002120	Cerebral cortical atrophy
ORPHANET:1466	ERCC5	2073	HP:0004322	Short stature
ORPHANET:1466	ERCC5	2073	HP:0000252	Microcephaly
ORPHANET:1466	ERCC5	2073	HP:0000992	Cutaneous photosensitivity
ORPHANET:1466	ERCC5	2073	HP:0001276	Hypertonia
ORPHANET:1466	ERCC6	2074	HP:0000518	Cataract
ORPHANET:1466	ERCC6	2074	HP:0100490	Camptodactyly of finger
ORPHANET:1466	ERCC6	2074	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1466	ERCC6	2074	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:1466	ERCC6	2074	HP:0000505	Visual impairment
ORPHANET:1466	ERCC6	2074	HP:0000347	Micrognathia
ORPHANET:1466	ERCC6	2074	HP:0002514	Cerebral calcification
ORPHANET:1466	ERCC6	2074	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1466	ERCC6	2074	HP:0000431	Wide nasal bridge
ORPHANET:1466	ERCC6	2074	HP:0000078	Abnormality of the genital system
ORPHANET:1466	ERCC6	2074	HP:0000365	Hearing impairment
ORPHANET:1466	ERCC6	2074	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:1466	ERCC6	2074	HP:0000470	Short neck
ORPHANET:1466	ERCC6	2074	HP:0001250	Seizures
ORPHANET:1466	ERCC6	2074	HP:0001252	Muscular hypotonia
ORPHANET:1466	ERCC6	2074	HP:0100543	Cognitive impairment
ORPHANET:1466	ERCC6	2074	HP:0001511	Intrauterine growth retardation
ORPHANET:1466	ERCC6	2074	HP:0000648	Optic atrophy
ORPHANET:1466	ERCC6	2074	HP:0001315	Reduced tendon reflexes
ORPHANET:1466	ERCC6	2074	HP:0000232	Everted lower lip vermilion
ORPHANET:1466	ERCC6	2074	HP:0001376	Limitation of joint mobility
ORPHANET:1466	ERCC6	2074	HP:0000233	Thin vermilion border
ORPHANET:1466	ERCC6	2074	HP:0001883	Talipes
ORPHANET:1466	ERCC6	2074	HP:0009830	Peripheral neuropathy
ORPHANET:1466	ERCC6	2074	HP:0005105	Abnormal nasal morphology
ORPHANET:1466	ERCC6	2074	HP:0010978	Abnormality of immune system physiology
ORPHANET:1466	ERCC6	2074	HP:0002120	Cerebral cortical atrophy
ORPHANET:1466	ERCC6	2074	HP:0004322	Short stature
ORPHANET:1466	ERCC6	2074	HP:0000252	Microcephaly
ORPHANET:1466	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
ORPHANET:1466	ERCC6	2074	HP:0001276	Hypertonia
OMIM:242840	EPG5	57724	HP:0001252	Muscular hypotonia
OMIM:242840	EPG5	57724	HP:0100543	Cognitive impairment
OMIM:242840	EPG5	57724	HP:0004429	Recurrent viral infections
OMIM:242840	EPG5	57724	HP:0001635	Congestive heart failure
OMIM:242840	EPG5	57724	HP:0000369	Low-set ears
OMIM:242840	EPG5	57724	HP:0000316	Hypertelorism
OMIM:242840	EPG5	57724	HP:0005374	Cellular immunodeficiency
OMIM:242840	EPG5	57724	HP:0002718	Recurrent bacterial infections
OMIM:242840	EPG5	57724	HP:0000519	Congenital cataract
OMIM:242840	EPG5	57724	HP:0001941	Acidosis
OMIM:242840	EPG5	57724	HP:0005407	Decreased number of CD4+ T cells
OMIM:242840	EPG5	57724	HP:0000347	Micrognathia
OMIM:242840	EPG5	57724	HP:0002841	Recurrent fungal infections
OMIM:242840	EPG5	57724	HP:0000777	Abnormality of the thymus
OMIM:242840	EPG5	57724	HP:0002205	Recurrent respiratory infections
OMIM:242840	EPG5	57724	HP:0000518	Cataract
OMIM:242840	EPG5	57724	HP:0002965	Cutaneous anergy
OMIM:242840	EPG5	57724	HP:0003198	Myopathy
OMIM:242840	EPG5	57724	HP:0001270	Motor delay
OMIM:242840	EPG5	57724	HP:0002360	Sleep disturbance
OMIM:242840	EPG5	57724	HP:0000648	Optic atrophy
OMIM:242840	EPG5	57724	HP:0001250	Seizures
OMIM:242840	EPG5	57724	HP:0004315	IgG deficiency
OMIM:242840	EPG5	57724	HP:0000252	Microcephaly
OMIM:242840	EPG5	57724	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:242840	EPG5	57724	HP:0001644	Dilated cardiomyopathy
OMIM:242840	EPG5	57724	HP:0000204	Cleft upper lip
OMIM:242840	EPG5	57724	HP:0003577	Congenital onset
OMIM:242840	EPG5	57724	HP:0000091	Abnormality of the renal tubule
OMIM:242840	EPG5	57724	HP:0005599	Hypopigmentation of hair
OMIM:242840	EPG5	57724	HP:0000175	Cleft palate
OMIM:242840	EPG5	57724	HP:0001376	Limitation of joint mobility
OMIM:242840	EPG5	57724	HP:0004322	Short stature
OMIM:242840	EPG5	57724	HP:0001107	Ocular albinism
OMIM:242840	EPG5	57724	HP:0001263	Global developmental delay
OMIM:242840	EPG5	57724	HP:0001639	Hypertrophic cardiomyopathy
OMIM:242840	EPG5	57724	HP:0000174	Abnormality of the palate
OMIM:242840	EPG5	57724	HP:0007513	Generalized hypopigmentation
OMIM:242840	EPG5	57724	HP:0000639	Nystagmus
OMIM:242840	EPG5	57724	HP:0001320	Cerebellar vermis hypoplasia
OMIM:242840	EPG5	57724	HP:0000407	Sensorineural hearing impairment
OMIM:242840	EPG5	57724	HP:0001022	Albinism
OMIM:242840	EPG5	57724	HP:0001510	Growth delay
OMIM:242840	EPG5	57724	HP:0001508	Failure to thrive
OMIM:242840	EPG5	57724	HP:0002269	Abnormality of neuronal migration
OMIM:242840	EPG5	57724	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:242840	EPG5	57724	HP:0002353	EEG abnormality
OMIM:242840	EPG5	57724	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:242840	EPG5	57724	HP:0007894	Hypopigmentation of the fundus
OMIM:242840	EPG5	57724	HP:0002120	Cerebral cortical atrophy
OMIM:242840	EPG5	57724	HP:0010636	Schizencephaly
OMIM:242840	EPG5	57724	HP:0001103	Abnormality of the macula
OMIM:242840	EPG5	57724	HP:0007703	Abnormality of retinal pigmentation
OMIM:242840	EPG5	57724	HP:0001274	Agenesis of corpus callosum
OMIM:242840	EPG5	57724	HP:0001712	Left ventricular hypertrophy
OMIM:242840	EPG5	57724	HP:0002533	Abnormal posturing
OMIM:242840	EPG5	57724	HP:0000007	Autosomal recessive inheritance
OMIM:242840	EPG5	57724	HP:0000601	Hypotelorism
OMIM:112310	FLNB	2317	HP:0004348	Abnormality of bone mineral density
OMIM:112310	FLNB	2317	HP:0002823	Abnormality of the femur
OMIM:112310	FLNB	2317	HP:0005104	Hypoplastic nasal septum
OMIM:112310	FLNB	2317	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:112310	FLNB	2317	HP:0000431	Wide nasal bridge
OMIM:112310	FLNB	2317	HP:0000028	Cryptorchidism
OMIM:112310	FLNB	2317	HP:0001163	Abnormality of the metacarpal bones
OMIM:112310	FLNB	2317	HP:0009826	Limb undergrowth
OMIM:112310	FLNB	2317	HP:0008824	Hypoplastic iliac body
OMIM:112310	FLNB	2317	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:112310	FLNB	2317	HP:0000774	Narrow chest
OMIM:112310	FLNB	2317	HP:0001789	Hydrops fetalis
OMIM:112310	FLNB	2317	HP:0002997	Abnormality of the ulna
OMIM:112310	FLNB	2317	HP:0003063	Abnormality of the humerus
OMIM:112310	FLNB	2317	HP:0000006	Autosomal dominant inheritance
OMIM:112310	FLNB	2317	HP:0100569	Abnormal vertebral ossification
OMIM:112310	FLNB	2317	HP:0001539	Omphalocele
OMIM:112310	FLNB	2317	HP:0003510	Severe short stature
OMIM:112310	FLNB	2317	HP:0001561	Polyhydramnios
OMIM:112310	FLNB	2317	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:112310	FLNB	2317	HP:0003974	Absent radius
OMIM:112310	FLNB	2317	HP:0000430	Underdeveloped nasal alae
OMIM:112310	FLNB	2317	HP:0002992	Abnormality of the tibia
OMIM:112310	FLNB	2317	HP:0006101	Finger syndactyly
OMIM:615438	LARS	51520	HP:0000407	Sensorineural hearing impairment
OMIM:615438	LARS	51520	HP:0001508	Failure to thrive
OMIM:615438	LARS	51520	HP:0003128	Lactic acidosis
OMIM:615438	LARS	51520	HP:0002240	Hepatomegaly
OMIM:615438	LARS	51520	HP:0010511	Long toe
OMIM:615438	LARS	51520	HP:0001263	Global developmental delay
OMIM:615438	LARS	51520	HP:0001252	Muscular hypotonia
OMIM:615438	LARS	51520	HP:0001397	Hepatic steatosis
OMIM:615438	LARS	51520	HP:0000252	Microcephaly
OMIM:615438	LARS	51520	HP:0003256	Abnormality of the coagulation cascade
OMIM:615438	LARS	51520	HP:0002910	Elevated hepatic transaminases
OMIM:615438	LARS	51520	HP:0001250	Seizures
OMIM:615438	LARS	51520	HP:0001903	Anemia
OMIM:615438	LARS	51520	HP:0000007	Autosomal recessive inheritance
OMIM:615438	LARS	51520	HP:0100807	Long fingers
OMIM:615438	LARS	51520	HP:0002194	Delayed gross motor development
OMIM:615438	LARS	51520	HP:0000293	Full cheeks
OMIM:615438	LARS	51520	HP:0001972	Macrocytic anemia
OMIM:615438	LARS	51520	HP:0002007	Frontal bossing
OMIM:300577	ZDHHC15	158866	HP:0001773	Short foot
OMIM:300577	ZDHHC15	158866	HP:0003196	Short nose
OMIM:300577	ZDHHC15	158866	HP:0200055	Small hand
OMIM:300577	ZDHHC15	158866	HP:0002162	Low posterior hairline
OMIM:300577	ZDHHC15	158866	HP:0001263	Global developmental delay
OMIM:300577	ZDHHC15	158866	HP:0001250	Seizures
OMIM:300577	ZDHHC15	158866	HP:0001344	Absent speech
OMIM:300577	ZDHHC15	158866	HP:0001999	Abnormal facial shape
OMIM:300577	ZDHHC15	158866	HP:0001256	Intellectual disability, mild
OMIM:300577	ZDHHC15	158866	HP:0001572	Macrodontia
OMIM:300577	ZDHHC15	158866	HP:0000218	High palate
OMIM:300577	ZDHHC15	158866	HP:0001417	X-linked inheritance
OMIM:300577	ZDHHC15	158866	HP:0000286	Epicanthus
OMIM:300577	ZDHHC15	158866	HP:0006829	Severe muscular hypotonia
OMIM:300577	ZDHHC15	158866	HP:0009237	Short 5th finger
OMIM:300577	ZDHHC15	158866	HP:0002967	Cubitus valgus
OMIM:300577	ZDHHC15	158866	HP:0001513	Obesity
OMIM:107000	RSPO4	343637	HP:0009884	Tapered distal phalanges of finger
OMIM:107000	RSPO4	343637	HP:0000006	Autosomal dominant inheritance
OMIM:107000	RSPO4	343637	HP:0002164	Nail dysplasia
OMIM:107000	RSPO4	343637	HP:0001798	Anonychia
OMIM:107000	RSPO4	343637	HP:0001374	Congenital hip dislocation
OMIM:107000	RSPO4	343637	HP:0008404	Nail dystrophy
OMIM:219900	CTNS	1497	HP:0000488	Retinopathy
OMIM:219900	CTNS	1497	HP:0000007	Autosomal recessive inheritance
OMIM:219900	CTNS	1497	HP:0000093	Proteinuria
OMIM:219900	CTNS	1497	HP:0003621	Juvenile onset
OMIM:219900	CTNS	1497	HP:0001507	Growth abnormality
OMIM:219900	CTNS	1497	HP:0003774	Stage 5 chronic kidney disease
OMIM:166230	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:166230	COL1A1	1277	HP:0001367	Abnormal joint morphology
OMIM:166230	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:166230	COL1A1	1277	HP:0002645	Wormian bones
OMIM:166230	COL1A1	1277	HP:0000164	Abnormality of the teeth
OMIM:166230	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
OMIM:166230	COL1A2	1278	HP:0001367	Abnormal joint morphology
OMIM:166230	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:166230	COL1A2	1278	HP:0002645	Wormian bones
OMIM:166230	COL1A2	1278	HP:0000164	Abnormality of the teeth
OMIM:616231	CASQ1	844	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616231	CASQ1	844	HP:0003394	Muscle cramps
OMIM:616231	CASQ1	844	HP:0003326	Myalgia
OMIM:616231	CASQ1	844	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616231	CASQ1	844	HP:0001324	Muscle weakness
OMIM:608361	ACAN	176	HP:0010306	Short thorax
OMIM:608361	ACAN	176	HP:0005930	Abnormality of epiphysis morphology
OMIM:608361	ACAN	176	HP:0000006	Autosomal dominant inheritance
OMIM:608361	ACAN	176	HP:0002857	Genu valgum
OMIM:608361	ACAN	176	HP:0002652	Skeletal dysplasia
OMIM:608361	ACAN	176	HP:0000926	Platyspondyly
OMIM:608361	ACAN	176	HP:0002758	Osteoarthritis
OMIM:608361	ACAN	176	HP:0004322	Short stature
OMIM:608361	ACAN	176	HP:0002983	Micromelia
OMIM:608361	ACAN	176	HP:0003508	Proportionate short stature
OMIM:608361	ACAN	176	HP:0002750	Delayed skeletal maturation
OMIM:608361	ACAN	176	HP:0003312	Abnormal form of the vertebral bodies
OMIM:608361	ACAN	176	HP:0002970	Genu varum
OMIM:170650	CTSC	1075	HP:0001425	Heterogeneous
OMIM:170650	CTSC	1075	HP:0000007	Autosomal recessive inheritance
OMIM:170650	CTSC	1075	HP:0000951	Abnormality of the skin
OMIM:607060	GBA	2629	HP:0002067	Bradykinesia
OMIM:607060	GBA	2629	HP:0002172	Postural instability
OMIM:607060	GBA	2629	HP:0003829	Incomplete penetrance
OMIM:607060	GBA	2629	HP:0004409	Hyposmia
OMIM:607060	GBA	2629	HP:0000006	Autosomal dominant inheritance
OMIM:607060	GBA	2629	HP:0000726	Dementia
OMIM:607060	GBA	2629	HP:0003677	Slow progression
OMIM:607060	GBA	2629	HP:0002063	Rigidity
OMIM:607060	DNAJC13	23317	HP:0002067	Bradykinesia
OMIM:607060	DNAJC13	23317	HP:0002172	Postural instability
OMIM:607060	DNAJC13	23317	HP:0003829	Incomplete penetrance
OMIM:607060	DNAJC13	23317	HP:0004409	Hyposmia
OMIM:607060	DNAJC13	23317	HP:0000006	Autosomal dominant inheritance
OMIM:607060	DNAJC13	23317	HP:0000726	Dementia
OMIM:607060	DNAJC13	23317	HP:0003677	Slow progression
OMIM:607060	DNAJC13	23317	HP:0002063	Rigidity
OMIM:607060	VPS35	55737	HP:0002067	Bradykinesia
OMIM:607060	VPS35	55737	HP:0002172	Postural instability
OMIM:607060	VPS35	55737	HP:0003829	Incomplete penetrance
OMIM:607060	VPS35	55737	HP:0004409	Hyposmia
OMIM:607060	VPS35	55737	HP:0000006	Autosomal dominant inheritance
OMIM:607060	VPS35	55737	HP:0000726	Dementia
OMIM:607060	VPS35	55737	HP:0003677	Slow progression
OMIM:607060	VPS35	55737	HP:0002063	Rigidity
OMIM:607060	GIGYF2	26058	HP:0002067	Bradykinesia
OMIM:607060	GIGYF2	26058	HP:0002172	Postural instability
OMIM:607060	GIGYF2	26058	HP:0003829	Incomplete penetrance
OMIM:607060	GIGYF2	26058	HP:0004409	Hyposmia
OMIM:607060	GIGYF2	26058	HP:0000006	Autosomal dominant inheritance
OMIM:607060	GIGYF2	26058	HP:0000726	Dementia
OMIM:607060	GIGYF2	26058	HP:0003677	Slow progression
OMIM:607060	GIGYF2	26058	HP:0002063	Rigidity
OMIM:607060	LRRK2	120892	HP:0002067	Bradykinesia
OMIM:607060	LRRK2	120892	HP:0002172	Postural instability
OMIM:607060	LRRK2	120892	HP:0003829	Incomplete penetrance
OMIM:607060	LRRK2	120892	HP:0004409	Hyposmia
OMIM:607060	LRRK2	120892	HP:0000006	Autosomal dominant inheritance
OMIM:607060	LRRK2	120892	HP:0000726	Dementia
OMIM:607060	LRRK2	120892	HP:0003677	Slow progression
OMIM:607060	LRRK2	120892	HP:0002063	Rigidity
OMIM:607060	EIF4G1	1981	HP:0002067	Bradykinesia
OMIM:607060	EIF4G1	1981	HP:0002172	Postural instability
OMIM:607060	EIF4G1	1981	HP:0003829	Incomplete penetrance
OMIM:607060	EIF4G1	1981	HP:0004409	Hyposmia
OMIM:607060	EIF4G1	1981	HP:0000006	Autosomal dominant inheritance
OMIM:607060	EIF4G1	1981	HP:0000726	Dementia
OMIM:607060	EIF4G1	1981	HP:0003677	Slow progression
OMIM:607060	EIF4G1	1981	HP:0002063	Rigidity
OMIM:607060	SNCA	6622	HP:0002067	Bradykinesia
OMIM:607060	SNCA	6622	HP:0002172	Postural instability
OMIM:607060	SNCA	6622	HP:0003829	Incomplete penetrance
OMIM:607060	SNCA	6622	HP:0004409	Hyposmia
OMIM:607060	SNCA	6622	HP:0000006	Autosomal dominant inheritance
OMIM:607060	SNCA	6622	HP:0000726	Dementia
OMIM:607060	SNCA	6622	HP:0003677	Slow progression
OMIM:607060	SNCA	6622	HP:0002063	Rigidity
OMIM:257980	WNT10A	80326	HP:0008069	Neoplasm of the skin
OMIM:257980	WNT10A	80326	HP:0011362	Abnormal hair quantity
OMIM:257980	WNT10A	80326	HP:0000613	Photophobia
OMIM:257980	WNT10A	80326	HP:0001798	Anonychia
OMIM:257980	WNT10A	80326	HP:0000689	Dental malocclusion
OMIM:257980	WNT10A	80326	HP:0000975	Hyperhidrosis
OMIM:257980	WNT10A	80326	HP:0001231	Abnormality of the fingernails
OMIM:257980	WNT10A	80326	HP:0010719	Abnormality of hair texture
OMIM:257980	WNT10A	80326	HP:0009804	Reduced number of teeth
OMIM:257980	WNT10A	80326	HP:0008388	Abnormality of the toenails
OMIM:257980	WNT10A	80326	HP:0008070	Sparse hair
OMIM:257980	WNT10A	80326	HP:0000982	Palmoplantar keratoderma
OMIM:257980	WNT10A	80326	HP:0000668	Hypodontia
OMIM:257980	WNT10A	80326	HP:0000007	Autosomal recessive inheritance
OMIM:257980	WNT10A	80326	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:257980	WNT10A	80326	HP:0000966	Hypohidrosis
OMIM:257980	WNT10A	80326	HP:0006349	Agenesis of permanent teeth
OMIM:257980	WNT10A	80326	HP:0000988	Skin rash
OMIM:257980	WNT10A	80326	HP:0000535	Sparse eyebrow
OMIM:257980	WNT10A	80326	HP:0002209	Sparse scalp hair
OMIM:257980	WNT10A	80326	HP:0100585	Telangiectasia of the skin
OMIM:257980	WNT10A	80326	HP:0000992	Cutaneous photosensitivity
OMIM:257980	WNT10A	80326	HP:0002164	Nail dysplasia
OMIM:257980	WNT10A	80326	HP:0000498	Blepharitis
OMIM:257980	WNT10A	80326	HP:0006482	Abnormality of dental morphology
OMIM:257980	WNT10A	80326	HP:0006481	Abnormality of primary teeth
OMIM:257980	WNT10A	80326	HP:0001025	Urticaria
OMIM:257980	WNT10A	80326	HP:0000958	Dry skin
OMIM:257980	WNT10A	80326	HP:0000956	Acanthosis nigricans
OMIM:116600	CRYAA	1409	HP:0010700	Total cataract
OMIM:116600	CRYAA	1409	HP:0001115	Posterior polar cataract
OMIM:116600	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:116600	CRYAA	1409	HP:0001139	Choroideremia
OMIM:116600	CRYAA	1409	HP:0000545	Myopia
OMIM:116600	CRYAA	1409	HP:0000519	Congenital cataract
OMIM:116600	CRYAB	1410	HP:0010700	Total cataract
OMIM:116600	CRYAB	1410	HP:0001115	Posterior polar cataract
OMIM:116600	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:116600	CRYAB	1410	HP:0001139	Choroideremia
OMIM:116600	CRYAB	1410	HP:0000545	Myopia
OMIM:116600	CRYAB	1410	HP:0000519	Congenital cataract
OMIM:116600	CHMP4B	128866	HP:0010700	Total cataract
OMIM:116600	CHMP4B	128866	HP:0001115	Posterior polar cataract
OMIM:116600	CHMP4B	128866	HP:0000006	Autosomal dominant inheritance
OMIM:116600	CHMP4B	128866	HP:0001139	Choroideremia
OMIM:116600	CHMP4B	128866	HP:0000545	Myopia
OMIM:116600	CHMP4B	128866	HP:0000519	Congenital cataract
OMIM:116600	CRYBA2	1412	HP:0010700	Total cataract
OMIM:116600	CRYBA2	1412	HP:0001115	Posterior polar cataract
OMIM:116600	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:116600	CRYBA2	1412	HP:0001139	Choroideremia
OMIM:116600	CRYBA2	1412	HP:0000545	Myopia
OMIM:116600	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:116600	AGK	55750	HP:0010700	Total cataract
OMIM:116600	AGK	55750	HP:0001115	Posterior polar cataract
OMIM:116600	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:116600	AGK	55750	HP:0001139	Choroideremia
OMIM:116600	AGK	55750	HP:0000545	Myopia
OMIM:116600	AGK	55750	HP:0000519	Congenital cataract
OMIM:116600	CRYBB2	1415	HP:0010700	Total cataract
OMIM:116600	CRYBB2	1415	HP:0001115	Posterior polar cataract
OMIM:116600	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:116600	CRYBB2	1415	HP:0001139	Choroideremia
OMIM:116600	CRYBB2	1415	HP:0000545	Myopia
OMIM:116600	CRYBB2	1415	HP:0000519	Congenital cataract
OMIM:116600	NHS	4810	HP:0010700	Total cataract
OMIM:116600	NHS	4810	HP:0001115	Posterior polar cataract
OMIM:116600	NHS	4810	HP:0000006	Autosomal dominant inheritance
OMIM:116600	NHS	4810	HP:0001139	Choroideremia
OMIM:116600	NHS	4810	HP:0000545	Myopia
OMIM:116600	NHS	4810	HP:0000519	Congenital cataract
OMIM:116600	CRYGB	1419	HP:0010700	Total cataract
OMIM:116600	CRYGB	1419	HP:0001115	Posterior polar cataract
OMIM:116600	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:116600	CRYGB	1419	HP:0001139	Choroideremia
OMIM:116600	CRYGB	1419	HP:0000545	Myopia
OMIM:116600	CRYGB	1419	HP:0000519	Congenital cataract
OMIM:116600	GJA3	2700	HP:0010700	Total cataract
OMIM:116600	GJA3	2700	HP:0001115	Posterior polar cataract
OMIM:116600	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:116600	GJA3	2700	HP:0001139	Choroideremia
OMIM:116600	GJA3	2700	HP:0000545	Myopia
OMIM:116600	GJA3	2700	HP:0000519	Congenital cataract
OMIM:116600	LSS	4047	HP:0010700	Total cataract
OMIM:116600	LSS	4047	HP:0001115	Posterior polar cataract
OMIM:116600	LSS	4047	HP:0000006	Autosomal dominant inheritance
OMIM:116600	LSS	4047	HP:0001139	Choroideremia
OMIM:116600	LSS	4047	HP:0000545	Myopia
OMIM:116600	LSS	4047	HP:0000519	Congenital cataract
OMIM:116600	EPHA2	1969	HP:0010700	Total cataract
OMIM:116600	EPHA2	1969	HP:0001115	Posterior polar cataract
OMIM:116600	EPHA2	1969	HP:0000006	Autosomal dominant inheritance
OMIM:116600	EPHA2	1969	HP:0001139	Choroideremia
OMIM:116600	EPHA2	1969	HP:0000545	Myopia
OMIM:116600	EPHA2	1969	HP:0000519	Congenital cataract
OMIM:116600	GCNT2	2651	HP:0010700	Total cataract
OMIM:116600	GCNT2	2651	HP:0001115	Posterior polar cataract
OMIM:116600	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:116600	GCNT2	2651	HP:0001139	Choroideremia
OMIM:116600	GCNT2	2651	HP:0000545	Myopia
OMIM:116600	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:116600	MIP	4284	HP:0010700	Total cataract
OMIM:116600	MIP	4284	HP:0001115	Posterior polar cataract
OMIM:116600	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:116600	MIP	4284	HP:0001139	Choroideremia
OMIM:116600	MIP	4284	HP:0000545	Myopia
OMIM:116600	MIP	4284	HP:0000519	Congenital cataract
OMIM:116600	PITX3	5309	HP:0010700	Total cataract
OMIM:116600	PITX3	5309	HP:0001115	Posterior polar cataract
OMIM:116600	PITX3	5309	HP:0000006	Autosomal dominant inheritance
OMIM:116600	PITX3	5309	HP:0001139	Choroideremia
OMIM:116600	PITX3	5309	HP:0000545	Myopia
OMIM:116600	PITX3	5309	HP:0000519	Congenital cataract
OMIM:613453	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:613453	MSRB3	253827	HP:0001730	Progressive hearing impairment
OMIM:613453	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:613453	BSND	7809	HP:0001730	Progressive hearing impairment
OMIM:613453	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:613453	ESPN	83715	HP:0001730	Progressive hearing impairment
OMIM:613453	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:613453	DFNB31	25861	HP:0001730	Progressive hearing impairment
OMIM:613453	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:613453	OTOA	146183	HP:0001730	Progressive hearing impairment
OMIM:613453	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:613453	GJA1	2697	HP:0001730	Progressive hearing impairment
OMIM:613453	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:613453	MET	4233	HP:0001730	Progressive hearing impairment
OMIM:613453	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:613453	CLDN14	23562	HP:0001730	Progressive hearing impairment
OMIM:613453	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:613453	HGF	3082	HP:0001730	Progressive hearing impairment
OMIM:613453	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:613453	PNPT1	87178	HP:0001730	Progressive hearing impairment
OMIM:613453	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:613453	EPS8	2059	HP:0001730	Progressive hearing impairment
OMIM:613453	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:613453	MYO3A	53904	HP:0001730	Progressive hearing impairment
OMIM:613453	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:613453	DCDC2	51473	HP:0001730	Progressive hearing impairment
OMIM:613453	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:613453	GJB2	2706	HP:0001730	Progressive hearing impairment
OMIM:613453	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:613453	GJB3	2707	HP:0001730	Progressive hearing impairment
OMIM:613453	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:613453	CABP2	51475	HP:0001730	Progressive hearing impairment
OMIM:613453	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:613453	GRXCR2	643226	HP:0001730	Progressive hearing impairment
OMIM:613453	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:613453	SERPINB6	5269	HP:0001730	Progressive hearing impairment
OMIM:613453	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:613453	COL11A2	1302	HP:0001730	Progressive hearing impairment
OMIM:613453	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613453	CIB2	10518	HP:0001730	Progressive hearing impairment
OMIM:613453	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:613453	FAM65B	9750	HP:0001730	Progressive hearing impairment
OMIM:613453	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:613453	KARS	3735	HP:0001730	Progressive hearing impairment
OMIM:613453	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:613453	LOXHD1	125336	HP:0001730	Progressive hearing impairment
OMIM:613453	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:613453	TMC1	117531	HP:0001730	Progressive hearing impairment
OMIM:613453	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:613453	CLIC5	53405	HP:0001730	Progressive hearing impairment
OMIM:613453	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:613453	OTOF	9381	HP:0001730	Progressive hearing impairment
OMIM:613453	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:613453	MYO6	4646	HP:0001730	Progressive hearing impairment
OMIM:613453	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:613453	TMIE	259236	HP:0001730	Progressive hearing impairment
OMIM:613453	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:613453	MYO7A	4647	HP:0001730	Progressive hearing impairment
OMIM:613453	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:613453	LRTOMT	220074	HP:0001730	Progressive hearing impairment
OMIM:613453	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:613453	OTOGL	283310	HP:0001730	Progressive hearing impairment
OMIM:613453	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:613453	TPRN	286262	HP:0001730	Progressive hearing impairment
OMIM:613453	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:613453	SLC26A4	5172	HP:0001730	Progressive hearing impairment
OMIM:613453	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:613453	GJB6	10804	HP:0001730	Progressive hearing impairment
OMIM:613453	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:613453	DFNB59	494513	HP:0001730	Progressive hearing impairment
OMIM:613453	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:613453	ESRRB	2103	HP:0001730	Progressive hearing impairment
OMIM:613453	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:613453	TMPRSS3	64699	HP:0001730	Progressive hearing impairment
OMIM:613453	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:613453	PTPRQ	374462	HP:0001730	Progressive hearing impairment
OMIM:613453	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613453	SLC26A5	375611	HP:0001730	Progressive hearing impairment
OMIM:613453	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:613453	PCDH15	65217	HP:0001730	Progressive hearing impairment
OMIM:613453	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:613453	TSPEAR	54084	HP:0001730	Progressive hearing impairment
OMIM:613453	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:613453	LHFPL5	222662	HP:0001730	Progressive hearing impairment
OMIM:613453	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:613453	TRIOBP	11078	HP:0001730	Progressive hearing impairment
OMIM:613453	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:613453	CDH23	64072	HP:0001730	Progressive hearing impairment
OMIM:613453	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:613453	RDX	5962	HP:0001730	Progressive hearing impairment
OMIM:613453	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:613453	GPSM2	29899	HP:0001730	Progressive hearing impairment
OMIM:613453	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:613453	ELMOD3	84173	HP:0001730	Progressive hearing impairment
OMIM:613453	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:613453	ILDR1	286676	HP:0001730	Progressive hearing impairment
OMIM:613453	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:613453	GRXCR1	389207	HP:0001730	Progressive hearing impairment
OMIM:613453	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:613453	MARVELD2	153562	HP:0001730	Progressive hearing impairment
OMIM:613453	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:613453	STRC	161497	HP:0001730	Progressive hearing impairment
OMIM:613453	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:613453	SLITRK6	84189	HP:0001730	Progressive hearing impairment
OMIM:613453	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:613453	TECTA	7007	HP:0001730	Progressive hearing impairment
OMIM:613453	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:613453	MYO15A	51168	HP:0001730	Progressive hearing impairment
OMIM:613453	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:613453	USH1C	10083	HP:0001730	Progressive hearing impairment
OMIM:613453	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:613453	ADCY1	107	HP:0001730	Progressive hearing impairment
OMIM:613453	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:613453	SYNE4	163183	HP:0001730	Progressive hearing impairment
OMIM:613453	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:613453	GIPC3	126326	HP:0001730	Progressive hearing impairment
OMIM:613453	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:613453	TBC1D24	57465	HP:0001730	Progressive hearing impairment
OMIM:613453	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:613453	OTOG	340990	HP:0001730	Progressive hearing impairment
OMIM:614021	CALM1	801	HP:0004756	Ventricular tachycardia
OMIM:614021	CALM1	801	HP:0000007	Autosomal recessive inheritance
OMIM:614021	CALM1	801	HP:0001699	Sudden death
OMIM:614021	CALM1	801	HP:0001279	Syncope
OMIM:614021	CALM2	805	HP:0004756	Ventricular tachycardia
OMIM:614021	CALM2	805	HP:0000007	Autosomal recessive inheritance
OMIM:614021	CALM2	805	HP:0001699	Sudden death
OMIM:614021	CALM2	805	HP:0001279	Syncope
OMIM:614021	RYR2	6262	HP:0004756	Ventricular tachycardia
OMIM:614021	RYR2	6262	HP:0000007	Autosomal recessive inheritance
OMIM:614021	RYR2	6262	HP:0001699	Sudden death
OMIM:614021	RYR2	6262	HP:0001279	Syncope
OMIM:614021	CALM3	808	HP:0004756	Ventricular tachycardia
OMIM:614021	CALM3	808	HP:0000007	Autosomal recessive inheritance
OMIM:614021	CALM3	808	HP:0001699	Sudden death
OMIM:614021	CALM3	808	HP:0001279	Syncope
OMIM:614021	TRDN	10345	HP:0004756	Ventricular tachycardia
OMIM:614021	TRDN	10345	HP:0000007	Autosomal recessive inheritance
OMIM:614021	TRDN	10345	HP:0001699	Sudden death
OMIM:614021	TRDN	10345	HP:0001279	Syncope
OMIM:614021	CASQ2	845	HP:0004756	Ventricular tachycardia
OMIM:614021	CASQ2	845	HP:0000007	Autosomal recessive inheritance
OMIM:614021	CASQ2	845	HP:0001699	Sudden death
OMIM:614021	CASQ2	845	HP:0001279	Syncope
OMIM:516006	ND6	4541	HP:0001427	Mitochondrial inheritance
OMIM:516006	ND6	4541	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:516006	ND6	4541	HP:0002315	Headache
OMIM:516006	ND6	4541	HP:0003674	Onset
OMIM:516006	ND6	4541	HP:0000543	Optic disc pallor
OMIM:516006	ND6	4541	HP:0001332	Dystonia
OMIM:239510	ALDH4A1	8659	HP:0001250	Seizures
OMIM:239510	ALDH4A1	8659	HP:0003108	Hyperglycinuria
OMIM:239510	ALDH4A1	8659	HP:0000007	Autosomal recessive inheritance
OMIM:239510	ALDH4A1	8659	HP:0003137	Prolinuria
OMIM:239510	ALDH4A1	8659	HP:0001249	Intellectual disability
ORPHANET:75496	B4GALT7	11285	HP:0001000	Abnormality of skin pigmentation
ORPHANET:75496	B4GALT7	11285	HP:0000230	Gingivitis
ORPHANET:75496	B4GALT7	11285	HP:0001252	Muscular hypotonia
ORPHANET:75496	B4GALT7	11285	HP:0007495	Prematurely aged appearance
ORPHANET:75496	B4GALT7	11285	HP:0000963	Thin skin
ORPHANET:75496	B4GALT7	11285	HP:0009124	Abnormality of adipose tissue
ORPHANET:75496	B4GALT7	11285	HP:0000987	Atypical scarring of skin
ORPHANET:75496	B4GALT7	11285	HP:0001382	Joint hypermobility
ORPHANET:75496	B4GALT7	11285	HP:0000506	Telecanthus
ORPHANET:75496	B4GALT7	11285	HP:0001999	Abnormal facial shape
ORPHANET:75496	B4GALT7	11285	HP:0001371	Flexion contracture
ORPHANET:75496	B4GALT7	11285	HP:0001646	Abnormality of the aortic valve
ORPHANET:75496	B4GALT7	11285	HP:0100813	Testicular torsion
ORPHANET:75496	B4GALT7	11285	HP:0002652	Skeletal dysplasia
ORPHANET:75496	B4GALT7	11285	HP:0001596	Alopecia
ORPHANET:75496	B4GALT7	11285	HP:0004349	Reduced bone mineral density
ORPHANET:75496	B4GALT7	11285	HP:0000286	Epicanthus
ORPHANET:75496	B4GALT7	11285	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:75496	B4GALT7	11285	HP:0004322	Short stature
ORPHANET:75496	B4GALT7	11285	HP:0000028	Cryptorchidism
ORPHANET:75496	B4GALT7	11285	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:75496	B3GALT6	126792	HP:0001000	Abnormality of skin pigmentation
ORPHANET:75496	B3GALT6	126792	HP:0000230	Gingivitis
ORPHANET:75496	B3GALT6	126792	HP:0001252	Muscular hypotonia
ORPHANET:75496	B3GALT6	126792	HP:0007495	Prematurely aged appearance
ORPHANET:75496	B3GALT6	126792	HP:0000963	Thin skin
ORPHANET:75496	B3GALT6	126792	HP:0009124	Abnormality of adipose tissue
ORPHANET:75496	B3GALT6	126792	HP:0000987	Atypical scarring of skin
ORPHANET:75496	B3GALT6	126792	HP:0001382	Joint hypermobility
ORPHANET:75496	B3GALT6	126792	HP:0000506	Telecanthus
ORPHANET:75496	B3GALT6	126792	HP:0001999	Abnormal facial shape
ORPHANET:75496	B3GALT6	126792	HP:0001371	Flexion contracture
ORPHANET:75496	B3GALT6	126792	HP:0001646	Abnormality of the aortic valve
ORPHANET:75496	B3GALT6	126792	HP:0100813	Testicular torsion
ORPHANET:75496	B3GALT6	126792	HP:0002652	Skeletal dysplasia
ORPHANET:75496	B3GALT6	126792	HP:0001596	Alopecia
ORPHANET:75496	B3GALT6	126792	HP:0004349	Reduced bone mineral density
ORPHANET:75496	B3GALT6	126792	HP:0000286	Epicanthus
ORPHANET:75496	B3GALT6	126792	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:75496	B3GALT6	126792	HP:0004322	Short stature
ORPHANET:75496	B3GALT6	126792	HP:0000028	Cryptorchidism
ORPHANET:75496	B3GALT6	126792	HP:0001641	Abnormality of the pulmonary valve
OMIM:614877	PEX19	5824	HP:0001410	Decreased liver function
OMIM:614877	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX19	5824	HP:0000556	Retinal dystrophy
OMIM:614877	PEX19	5824	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX19	5824	HP:0001263	Global developmental delay
OMIM:614877	PEX19	5824	HP:0000648	Optic atrophy
OMIM:614877	PEX19	5824	HP:0000505	Visual impairment
OMIM:614877	PEX19	5824	HP:0000518	Cataract
OMIM:614877	PEX19	5824	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX19	5824	HP:0001251	Ataxia
OMIM:614877	PEX16	9409	HP:0001410	Decreased liver function
OMIM:614877	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX16	9409	HP:0000556	Retinal dystrophy
OMIM:614877	PEX16	9409	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX16	9409	HP:0001263	Global developmental delay
OMIM:614877	PEX16	9409	HP:0000648	Optic atrophy
OMIM:614877	PEX16	9409	HP:0000505	Visual impairment
OMIM:614877	PEX16	9409	HP:0000518	Cataract
OMIM:614877	PEX16	9409	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX16	9409	HP:0001251	Ataxia
OMIM:614877	PEX2	5828	HP:0001410	Decreased liver function
OMIM:614877	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX2	5828	HP:0000556	Retinal dystrophy
OMIM:614877	PEX2	5828	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX2	5828	HP:0001263	Global developmental delay
OMIM:614877	PEX2	5828	HP:0000648	Optic atrophy
OMIM:614877	PEX2	5828	HP:0000505	Visual impairment
OMIM:614877	PEX2	5828	HP:0000518	Cataract
OMIM:614877	PEX2	5828	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX2	5828	HP:0001251	Ataxia
OMIM:614877	PEX1	5189	HP:0001410	Decreased liver function
OMIM:614877	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX1	5189	HP:0000556	Retinal dystrophy
OMIM:614877	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX1	5189	HP:0001263	Global developmental delay
OMIM:614877	PEX1	5189	HP:0000648	Optic atrophy
OMIM:614877	PEX1	5189	HP:0000505	Visual impairment
OMIM:614877	PEX1	5189	HP:0000518	Cataract
OMIM:614877	PEX1	5189	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX1	5189	HP:0001251	Ataxia
OMIM:614877	PEX5	5830	HP:0001410	Decreased liver function
OMIM:614877	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX5	5830	HP:0000556	Retinal dystrophy
OMIM:614877	PEX5	5830	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX5	5830	HP:0001263	Global developmental delay
OMIM:614877	PEX5	5830	HP:0000648	Optic atrophy
OMIM:614877	PEX5	5830	HP:0000505	Visual impairment
OMIM:614877	PEX5	5830	HP:0000518	Cataract
OMIM:614877	PEX5	5830	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX5	5830	HP:0001251	Ataxia
OMIM:614877	PEX6	5190	HP:0001410	Decreased liver function
OMIM:614877	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX6	5190	HP:0000556	Retinal dystrophy
OMIM:614877	PEX6	5190	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX6	5190	HP:0001263	Global developmental delay
OMIM:614877	PEX6	5190	HP:0000648	Optic atrophy
OMIM:614877	PEX6	5190	HP:0000505	Visual impairment
OMIM:614877	PEX6	5190	HP:0000518	Cataract
OMIM:614877	PEX6	5190	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX6	5190	HP:0001251	Ataxia
OMIM:614877	PEX10	5192	HP:0001410	Decreased liver function
OMIM:614877	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX10	5192	HP:0000556	Retinal dystrophy
OMIM:614877	PEX10	5192	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX10	5192	HP:0001263	Global developmental delay
OMIM:614877	PEX10	5192	HP:0000648	Optic atrophy
OMIM:614877	PEX10	5192	HP:0000505	Visual impairment
OMIM:614877	PEX10	5192	HP:0000518	Cataract
OMIM:614877	PEX10	5192	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX10	5192	HP:0001251	Ataxia
OMIM:614877	PEX12	5193	HP:0001410	Decreased liver function
OMIM:614877	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX12	5193	HP:0000556	Retinal dystrophy
OMIM:614877	PEX12	5193	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX12	5193	HP:0001263	Global developmental delay
OMIM:614877	PEX12	5193	HP:0000648	Optic atrophy
OMIM:614877	PEX12	5193	HP:0000505	Visual impairment
OMIM:614877	PEX12	5193	HP:0000518	Cataract
OMIM:614877	PEX12	5193	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX12	5193	HP:0001251	Ataxia
OMIM:614877	PEX13	5194	HP:0001410	Decreased liver function
OMIM:614877	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX13	5194	HP:0000556	Retinal dystrophy
OMIM:614877	PEX13	5194	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX13	5194	HP:0001263	Global developmental delay
OMIM:614877	PEX13	5194	HP:0000648	Optic atrophy
OMIM:614877	PEX13	5194	HP:0000505	Visual impairment
OMIM:614877	PEX13	5194	HP:0000518	Cataract
OMIM:614877	PEX13	5194	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX13	5194	HP:0001251	Ataxia
OMIM:614877	PEX14	5195	HP:0001410	Decreased liver function
OMIM:614877	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX14	5195	HP:0000556	Retinal dystrophy
OMIM:614877	PEX14	5195	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX14	5195	HP:0001263	Global developmental delay
OMIM:614877	PEX14	5195	HP:0000648	Optic atrophy
OMIM:614877	PEX14	5195	HP:0000505	Visual impairment
OMIM:614877	PEX14	5195	HP:0000518	Cataract
OMIM:614877	PEX14	5195	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX14	5195	HP:0001251	Ataxia
OMIM:614877	PEX26	55670	HP:0001410	Decreased liver function
OMIM:614877	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX26	55670	HP:0000556	Retinal dystrophy
OMIM:614877	PEX26	55670	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX26	55670	HP:0001263	Global developmental delay
OMIM:614877	PEX26	55670	HP:0000648	Optic atrophy
OMIM:614877	PEX26	55670	HP:0000505	Visual impairment
OMIM:614877	PEX26	55670	HP:0000518	Cataract
OMIM:614877	PEX26	55670	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX26	55670	HP:0001251	Ataxia
OMIM:614877	PEX3	8504	HP:0001410	Decreased liver function
OMIM:614877	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX3	8504	HP:0000556	Retinal dystrophy
OMIM:614877	PEX3	8504	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX3	8504	HP:0001263	Global developmental delay
OMIM:614877	PEX3	8504	HP:0000648	Optic atrophy
OMIM:614877	PEX3	8504	HP:0000505	Visual impairment
OMIM:614877	PEX3	8504	HP:0000518	Cataract
OMIM:614877	PEX3	8504	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX3	8504	HP:0001251	Ataxia
OMIM:614877	PEX11B	8799	HP:0001410	Decreased liver function
OMIM:614877	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614877	PEX11B	8799	HP:0000556	Retinal dystrophy
OMIM:614877	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
OMIM:614877	PEX11B	8799	HP:0001263	Global developmental delay
OMIM:614877	PEX11B	8799	HP:0000648	Optic atrophy
OMIM:614877	PEX11B	8799	HP:0000505	Visual impairment
OMIM:614877	PEX11B	8799	HP:0000518	Cataract
OMIM:614877	PEX11B	8799	HP:0001319	Neonatal hypotonia
OMIM:614877	PEX11B	8799	HP:0001251	Ataxia
OMIM:613676	ATR	545	HP:0000430	Underdeveloped nasal alae
OMIM:613676	ATR	545	HP:0000007	Autosomal recessive inheritance
OMIM:613676	ATR	545	HP:0001511	Intrauterine growth retardation
OMIM:613676	ATR	545	HP:0004325	Decreased body weight
OMIM:613676	ATR	545	HP:0000348	High forehead
OMIM:613676	ATR	545	HP:0100543	Cognitive impairment
OMIM:613676	ATR	545	HP:0004322	Short stature
OMIM:613676	ATR	545	HP:0000369	Low-set ears
OMIM:613676	ATR	545	HP:0000278	Retrognathia
OMIM:613676	ATR	545	HP:0010455	Steep acetabular roof
OMIM:613676	ATR	545	HP:0000252	Microcephaly
OMIM:613676	CEP152	22995	HP:0000430	Underdeveloped nasal alae
OMIM:613676	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:613676	CEP152	22995	HP:0001511	Intrauterine growth retardation
OMIM:613676	CEP152	22995	HP:0004325	Decreased body weight
OMIM:613676	CEP152	22995	HP:0000348	High forehead
OMIM:613676	CEP152	22995	HP:0100543	Cognitive impairment
OMIM:613676	CEP152	22995	HP:0004322	Short stature
OMIM:613676	CEP152	22995	HP:0000369	Low-set ears
OMIM:613676	CEP152	22995	HP:0000278	Retrognathia
OMIM:613676	CEP152	22995	HP:0010455	Steep acetabular roof
OMIM:613676	CEP152	22995	HP:0000252	Microcephaly
OMIM:613676	CENPE	1062	HP:0000430	Underdeveloped nasal alae
OMIM:613676	CENPE	1062	HP:0000007	Autosomal recessive inheritance
OMIM:613676	CENPE	1062	HP:0001511	Intrauterine growth retardation
OMIM:613676	CENPE	1062	HP:0004325	Decreased body weight
OMIM:613676	CENPE	1062	HP:0000348	High forehead
OMIM:613676	CENPE	1062	HP:0100543	Cognitive impairment
OMIM:613676	CENPE	1062	HP:0004322	Short stature
OMIM:613676	CENPE	1062	HP:0000369	Low-set ears
OMIM:613676	CENPE	1062	HP:0000278	Retrognathia
OMIM:613676	CENPE	1062	HP:0010455	Steep acetabular roof
OMIM:613676	CENPE	1062	HP:0000252	Microcephaly
OMIM:613676	CENPJ	55835	HP:0000430	Underdeveloped nasal alae
OMIM:613676	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:613676	CENPJ	55835	HP:0001511	Intrauterine growth retardation
OMIM:613676	CENPJ	55835	HP:0004325	Decreased body weight
OMIM:613676	CENPJ	55835	HP:0000348	High forehead
OMIM:613676	CENPJ	55835	HP:0100543	Cognitive impairment
OMIM:613676	CENPJ	55835	HP:0004322	Short stature
OMIM:613676	CENPJ	55835	HP:0000369	Low-set ears
OMIM:613676	CENPJ	55835	HP:0000278	Retrognathia
OMIM:613676	CENPJ	55835	HP:0010455	Steep acetabular roof
OMIM:613676	CENPJ	55835	HP:0000252	Microcephaly
OMIM:613676	PCNT	5116	HP:0000430	Underdeveloped nasal alae
OMIM:613676	PCNT	5116	HP:0000007	Autosomal recessive inheritance
OMIM:613676	PCNT	5116	HP:0001511	Intrauterine growth retardation
OMIM:613676	PCNT	5116	HP:0004325	Decreased body weight
OMIM:613676	PCNT	5116	HP:0000348	High forehead
OMIM:613676	PCNT	5116	HP:0100543	Cognitive impairment
OMIM:613676	PCNT	5116	HP:0004322	Short stature
OMIM:613676	PCNT	5116	HP:0000369	Low-set ears
OMIM:613676	PCNT	5116	HP:0000278	Retrognathia
OMIM:613676	PCNT	5116	HP:0010455	Steep acetabular roof
OMIM:613676	PCNT	5116	HP:0000252	Microcephaly
OMIM:613676	RBBP8	5932	HP:0000430	Underdeveloped nasal alae
OMIM:613676	RBBP8	5932	HP:0000007	Autosomal recessive inheritance
OMIM:613676	RBBP8	5932	HP:0001511	Intrauterine growth retardation
OMIM:613676	RBBP8	5932	HP:0004325	Decreased body weight
OMIM:613676	RBBP8	5932	HP:0000348	High forehead
OMIM:613676	RBBP8	5932	HP:0100543	Cognitive impairment
OMIM:613676	RBBP8	5932	HP:0004322	Short stature
OMIM:613676	RBBP8	5932	HP:0000369	Low-set ears
OMIM:613676	RBBP8	5932	HP:0000278	Retrognathia
OMIM:613676	RBBP8	5932	HP:0010455	Steep acetabular roof
OMIM:613676	RBBP8	5932	HP:0000252	Microcephaly
OMIM:613676	PLK4	10733	HP:0000430	Underdeveloped nasal alae
OMIM:613676	PLK4	10733	HP:0000007	Autosomal recessive inheritance
OMIM:613676	PLK4	10733	HP:0001511	Intrauterine growth retardation
OMIM:613676	PLK4	10733	HP:0004325	Decreased body weight
OMIM:613676	PLK4	10733	HP:0000348	High forehead
OMIM:613676	PLK4	10733	HP:0100543	Cognitive impairment
OMIM:613676	PLK4	10733	HP:0004322	Short stature
OMIM:613676	PLK4	10733	HP:0000369	Low-set ears
OMIM:613676	PLK4	10733	HP:0000278	Retrognathia
OMIM:613676	PLK4	10733	HP:0010455	Steep acetabular roof
OMIM:613676	PLK4	10733	HP:0000252	Microcephaly
OMIM:613676	ATRIP	84126	HP:0000430	Underdeveloped nasal alae
OMIM:613676	ATRIP	84126	HP:0000007	Autosomal recessive inheritance
OMIM:613676	ATRIP	84126	HP:0001511	Intrauterine growth retardation
OMIM:613676	ATRIP	84126	HP:0004325	Decreased body weight
OMIM:613676	ATRIP	84126	HP:0000348	High forehead
OMIM:613676	ATRIP	84126	HP:0100543	Cognitive impairment
OMIM:613676	ATRIP	84126	HP:0004322	Short stature
OMIM:613676	ATRIP	84126	HP:0000369	Low-set ears
OMIM:613676	ATRIP	84126	HP:0000278	Retrognathia
OMIM:613676	ATRIP	84126	HP:0010455	Steep acetabular roof
OMIM:613676	ATRIP	84126	HP:0000252	Microcephaly
OMIM:213300	CEP41	95681	HP:0000007	Autosomal recessive inheritance
OMIM:213300	CEP41	95681	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	CEP41	95681	HP:0010808	Protruding tongue
OMIM:213300	CEP41	95681	HP:0000369	Low-set ears
OMIM:213300	CEP41	95681	HP:0007973	Retinal dysplasia
OMIM:213300	CEP41	95681	HP:0001252	Muscular hypotonia
OMIM:213300	CEP41	95681	HP:0001760	Abnormality of the foot
OMIM:213300	CEP41	95681	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	CEP41	95681	HP:0007772	Impaired smooth pursuit
OMIM:213300	CEP41	95681	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	CEP41	95681	HP:0001425	Heterogeneous
OMIM:213300	CEP41	95681	HP:0011220	Prominent forehead
OMIM:213300	CEP41	95681	HP:0000158	Macroglossia
OMIM:213300	CEP41	95681	HP:0000657	Oculomotor apraxia
OMIM:213300	CEP41	95681	HP:0002419	Molar tooth sign on MRI
OMIM:213300	CEP41	95681	HP:0002871	Central apnea
OMIM:213300	CEP41	95681	HP:0000508	Ptosis
OMIM:213300	CEP41	95681	HP:0003812	Phenotypic variability
OMIM:213300	CEP41	95681	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	CEP41	95681	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	CEP41	95681	HP:0002553	Highly arched eyebrow
OMIM:213300	CEP41	95681	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	CEP41	95681	HP:0002876	Episodic tachypnea
OMIM:213300	CEP41	95681	HP:0000286	Epicanthus
OMIM:213300	CEP41	95681	HP:0000107	Renal cyst
OMIM:213300	CEP41	95681	HP:0000463	Anteverted nares
OMIM:213300	CEP41	95681	HP:0000588	Optic nerve coloboma
OMIM:213300	CEP41	95681	HP:0010828	Hemifacial spasm
OMIM:213300	CEP41	95681	HP:0200096	Triangular-shaped open mouth
OMIM:213300	CEP41	95681	HP:0001251	Ataxia
OMIM:213300	CEP41	95681	HP:0001395	Hepatic fibrosis
OMIM:213300	CEP41	95681	HP:0002508	Brainstem dysplasia
OMIM:213300	CEP41	95681	HP:0000567	Chorioretinal coloboma
OMIM:213300	CEP41	95681	HP:0000556	Retinal dystrophy
OMIM:213300	CEP41	95681	HP:0001249	Intellectual disability
OMIM:213300	CEP41	95681	HP:0000256	Macrocephaly
OMIM:213300	CEP41	95681	HP:0000752	Hyperactivity
OMIM:213300	CEP41	95681	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	CEP41	95681	HP:0000718	Aggressive behavior
OMIM:213300	CEP41	95681	HP:0000742	Self-mutilation
OMIM:213300	CEP41	95681	HP:0001263	Global developmental delay
OMIM:213300	CEP41	95681	HP:0001162	Postaxial hand polydactyly
OMIM:213300	CEP41	95681	HP:0007271	Occipital myelomeningocele
OMIM:213300	CEP41	95681	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:213300	C5ORF42	65250	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	C5ORF42	65250	HP:0010808	Protruding tongue
OMIM:213300	C5ORF42	65250	HP:0000369	Low-set ears
OMIM:213300	C5ORF42	65250	HP:0007973	Retinal dysplasia
OMIM:213300	C5ORF42	65250	HP:0001252	Muscular hypotonia
OMIM:213300	C5ORF42	65250	HP:0001760	Abnormality of the foot
OMIM:213300	C5ORF42	65250	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	C5ORF42	65250	HP:0007772	Impaired smooth pursuit
OMIM:213300	C5ORF42	65250	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	C5ORF42	65250	HP:0001425	Heterogeneous
OMIM:213300	C5ORF42	65250	HP:0011220	Prominent forehead
OMIM:213300	C5ORF42	65250	HP:0000158	Macroglossia
OMIM:213300	C5ORF42	65250	HP:0000657	Oculomotor apraxia
OMIM:213300	C5ORF42	65250	HP:0002419	Molar tooth sign on MRI
OMIM:213300	C5ORF42	65250	HP:0002871	Central apnea
OMIM:213300	C5ORF42	65250	HP:0000508	Ptosis
OMIM:213300	C5ORF42	65250	HP:0003812	Phenotypic variability
OMIM:213300	C5ORF42	65250	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	C5ORF42	65250	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	C5ORF42	65250	HP:0002553	Highly arched eyebrow
OMIM:213300	C5ORF42	65250	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	C5ORF42	65250	HP:0002876	Episodic tachypnea
OMIM:213300	C5ORF42	65250	HP:0000286	Epicanthus
OMIM:213300	C5ORF42	65250	HP:0000107	Renal cyst
OMIM:213300	C5ORF42	65250	HP:0000463	Anteverted nares
OMIM:213300	C5ORF42	65250	HP:0000588	Optic nerve coloboma
OMIM:213300	C5ORF42	65250	HP:0010828	Hemifacial spasm
OMIM:213300	C5ORF42	65250	HP:0200096	Triangular-shaped open mouth
OMIM:213300	C5ORF42	65250	HP:0001251	Ataxia
OMIM:213300	C5ORF42	65250	HP:0001395	Hepatic fibrosis
OMIM:213300	C5ORF42	65250	HP:0002508	Brainstem dysplasia
OMIM:213300	C5ORF42	65250	HP:0000567	Chorioretinal coloboma
OMIM:213300	C5ORF42	65250	HP:0000556	Retinal dystrophy
OMIM:213300	C5ORF42	65250	HP:0001249	Intellectual disability
OMIM:213300	C5ORF42	65250	HP:0000256	Macrocephaly
OMIM:213300	C5ORF42	65250	HP:0000752	Hyperactivity
OMIM:213300	C5ORF42	65250	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	C5ORF42	65250	HP:0000718	Aggressive behavior
OMIM:213300	C5ORF42	65250	HP:0000742	Self-mutilation
OMIM:213300	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:213300	C5ORF42	65250	HP:0001162	Postaxial hand polydactyly
OMIM:213300	C5ORF42	65250	HP:0007271	Occipital myelomeningocele
OMIM:213300	C5ORF42	65250	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:213300	B9D1	27077	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	B9D1	27077	HP:0010808	Protruding tongue
OMIM:213300	B9D1	27077	HP:0000369	Low-set ears
OMIM:213300	B9D1	27077	HP:0007973	Retinal dysplasia
OMIM:213300	B9D1	27077	HP:0001252	Muscular hypotonia
OMIM:213300	B9D1	27077	HP:0001760	Abnormality of the foot
OMIM:213300	B9D1	27077	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	B9D1	27077	HP:0007772	Impaired smooth pursuit
OMIM:213300	B9D1	27077	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	B9D1	27077	HP:0001425	Heterogeneous
OMIM:213300	B9D1	27077	HP:0011220	Prominent forehead
OMIM:213300	B9D1	27077	HP:0000158	Macroglossia
OMIM:213300	B9D1	27077	HP:0000657	Oculomotor apraxia
OMIM:213300	B9D1	27077	HP:0002419	Molar tooth sign on MRI
OMIM:213300	B9D1	27077	HP:0002871	Central apnea
OMIM:213300	B9D1	27077	HP:0000508	Ptosis
OMIM:213300	B9D1	27077	HP:0003812	Phenotypic variability
OMIM:213300	B9D1	27077	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	B9D1	27077	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	B9D1	27077	HP:0002553	Highly arched eyebrow
OMIM:213300	B9D1	27077	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	B9D1	27077	HP:0002876	Episodic tachypnea
OMIM:213300	B9D1	27077	HP:0000286	Epicanthus
OMIM:213300	B9D1	27077	HP:0000107	Renal cyst
OMIM:213300	B9D1	27077	HP:0000463	Anteverted nares
OMIM:213300	B9D1	27077	HP:0000588	Optic nerve coloboma
OMIM:213300	B9D1	27077	HP:0010828	Hemifacial spasm
OMIM:213300	B9D1	27077	HP:0200096	Triangular-shaped open mouth
OMIM:213300	B9D1	27077	HP:0001251	Ataxia
OMIM:213300	B9D1	27077	HP:0001395	Hepatic fibrosis
OMIM:213300	B9D1	27077	HP:0002508	Brainstem dysplasia
OMIM:213300	B9D1	27077	HP:0000567	Chorioretinal coloboma
OMIM:213300	B9D1	27077	HP:0000556	Retinal dystrophy
OMIM:213300	B9D1	27077	HP:0001249	Intellectual disability
OMIM:213300	B9D1	27077	HP:0000256	Macrocephaly
OMIM:213300	B9D1	27077	HP:0000752	Hyperactivity
OMIM:213300	B9D1	27077	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	B9D1	27077	HP:0000718	Aggressive behavior
OMIM:213300	B9D1	27077	HP:0000742	Self-mutilation
OMIM:213300	B9D1	27077	HP:0001263	Global developmental delay
OMIM:213300	B9D1	27077	HP:0001162	Postaxial hand polydactyly
OMIM:213300	B9D1	27077	HP:0007271	Occipital myelomeningocele
OMIM:213300	B9D1	27077	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:213300	TMEM237	65062	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	TMEM237	65062	HP:0010808	Protruding tongue
OMIM:213300	TMEM237	65062	HP:0000369	Low-set ears
OMIM:213300	TMEM237	65062	HP:0007973	Retinal dysplasia
OMIM:213300	TMEM237	65062	HP:0001252	Muscular hypotonia
OMIM:213300	TMEM237	65062	HP:0001760	Abnormality of the foot
OMIM:213300	TMEM237	65062	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	TMEM237	65062	HP:0007772	Impaired smooth pursuit
OMIM:213300	TMEM237	65062	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	TMEM237	65062	HP:0001425	Heterogeneous
OMIM:213300	TMEM237	65062	HP:0011220	Prominent forehead
OMIM:213300	TMEM237	65062	HP:0000158	Macroglossia
OMIM:213300	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:213300	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:213300	TMEM237	65062	HP:0002871	Central apnea
OMIM:213300	TMEM237	65062	HP:0000508	Ptosis
OMIM:213300	TMEM237	65062	HP:0003812	Phenotypic variability
OMIM:213300	TMEM237	65062	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	TMEM237	65062	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	TMEM237	65062	HP:0002553	Highly arched eyebrow
OMIM:213300	TMEM237	65062	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	TMEM237	65062	HP:0002876	Episodic tachypnea
OMIM:213300	TMEM237	65062	HP:0000286	Epicanthus
OMIM:213300	TMEM237	65062	HP:0000107	Renal cyst
OMIM:213300	TMEM237	65062	HP:0000463	Anteverted nares
OMIM:213300	TMEM237	65062	HP:0000588	Optic nerve coloboma
OMIM:213300	TMEM237	65062	HP:0010828	Hemifacial spasm
OMIM:213300	TMEM237	65062	HP:0200096	Triangular-shaped open mouth
OMIM:213300	TMEM237	65062	HP:0001251	Ataxia
OMIM:213300	TMEM237	65062	HP:0001395	Hepatic fibrosis
OMIM:213300	TMEM237	65062	HP:0002508	Brainstem dysplasia
OMIM:213300	TMEM237	65062	HP:0000567	Chorioretinal coloboma
OMIM:213300	TMEM237	65062	HP:0000556	Retinal dystrophy
OMIM:213300	TMEM237	65062	HP:0001249	Intellectual disability
OMIM:213300	TMEM237	65062	HP:0000256	Macrocephaly
OMIM:213300	TMEM237	65062	HP:0000752	Hyperactivity
OMIM:213300	TMEM237	65062	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	TMEM237	65062	HP:0000718	Aggressive behavior
OMIM:213300	TMEM237	65062	HP:0000742	Self-mutilation
OMIM:213300	TMEM237	65062	HP:0001263	Global developmental delay
OMIM:213300	TMEM237	65062	HP:0001162	Postaxial hand polydactyly
OMIM:213300	TMEM237	65062	HP:0007271	Occipital myelomeningocele
OMIM:213300	TMEM237	65062	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:213300	CSPP1	79848	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	CSPP1	79848	HP:0010808	Protruding tongue
OMIM:213300	CSPP1	79848	HP:0000369	Low-set ears
OMIM:213300	CSPP1	79848	HP:0007973	Retinal dysplasia
OMIM:213300	CSPP1	79848	HP:0001252	Muscular hypotonia
OMIM:213300	CSPP1	79848	HP:0001760	Abnormality of the foot
OMIM:213300	CSPP1	79848	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	CSPP1	79848	HP:0007772	Impaired smooth pursuit
OMIM:213300	CSPP1	79848	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	CSPP1	79848	HP:0001425	Heterogeneous
OMIM:213300	CSPP1	79848	HP:0011220	Prominent forehead
OMIM:213300	CSPP1	79848	HP:0000158	Macroglossia
OMIM:213300	CSPP1	79848	HP:0000657	Oculomotor apraxia
OMIM:213300	CSPP1	79848	HP:0002419	Molar tooth sign on MRI
OMIM:213300	CSPP1	79848	HP:0002871	Central apnea
OMIM:213300	CSPP1	79848	HP:0000508	Ptosis
OMIM:213300	CSPP1	79848	HP:0003812	Phenotypic variability
OMIM:213300	CSPP1	79848	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	CSPP1	79848	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	CSPP1	79848	HP:0002553	Highly arched eyebrow
OMIM:213300	CSPP1	79848	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	CSPP1	79848	HP:0002876	Episodic tachypnea
OMIM:213300	CSPP1	79848	HP:0000286	Epicanthus
OMIM:213300	CSPP1	79848	HP:0000107	Renal cyst
OMIM:213300	CSPP1	79848	HP:0000463	Anteverted nares
OMIM:213300	CSPP1	79848	HP:0000588	Optic nerve coloboma
OMIM:213300	CSPP1	79848	HP:0010828	Hemifacial spasm
OMIM:213300	CSPP1	79848	HP:0200096	Triangular-shaped open mouth
OMIM:213300	CSPP1	79848	HP:0001251	Ataxia
OMIM:213300	CSPP1	79848	HP:0001395	Hepatic fibrosis
OMIM:213300	CSPP1	79848	HP:0002508	Brainstem dysplasia
OMIM:213300	CSPP1	79848	HP:0000567	Chorioretinal coloboma
OMIM:213300	CSPP1	79848	HP:0000556	Retinal dystrophy
OMIM:213300	CSPP1	79848	HP:0001249	Intellectual disability
OMIM:213300	CSPP1	79848	HP:0000256	Macrocephaly
OMIM:213300	CSPP1	79848	HP:0000752	Hyperactivity
OMIM:213300	CSPP1	79848	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	CSPP1	79848	HP:0000718	Aggressive behavior
OMIM:213300	CSPP1	79848	HP:0000742	Self-mutilation
OMIM:213300	CSPP1	79848	HP:0001263	Global developmental delay
OMIM:213300	CSPP1	79848	HP:0001162	Postaxial hand polydactyly
OMIM:213300	CSPP1	79848	HP:0007271	Occipital myelomeningocele
OMIM:213300	CSPP1	79848	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:213300	TMEM67	91147	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	TMEM67	91147	HP:0010808	Protruding tongue
OMIM:213300	TMEM67	91147	HP:0000369	Low-set ears
OMIM:213300	TMEM67	91147	HP:0007973	Retinal dysplasia
OMIM:213300	TMEM67	91147	HP:0001252	Muscular hypotonia
OMIM:213300	TMEM67	91147	HP:0001760	Abnormality of the foot
OMIM:213300	TMEM67	91147	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	TMEM67	91147	HP:0007772	Impaired smooth pursuit
OMIM:213300	TMEM67	91147	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	TMEM67	91147	HP:0001425	Heterogeneous
OMIM:213300	TMEM67	91147	HP:0011220	Prominent forehead
OMIM:213300	TMEM67	91147	HP:0000158	Macroglossia
OMIM:213300	TMEM67	91147	HP:0000657	Oculomotor apraxia
OMIM:213300	TMEM67	91147	HP:0002419	Molar tooth sign on MRI
OMIM:213300	TMEM67	91147	HP:0002871	Central apnea
OMIM:213300	TMEM67	91147	HP:0000508	Ptosis
OMIM:213300	TMEM67	91147	HP:0003812	Phenotypic variability
OMIM:213300	TMEM67	91147	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	TMEM67	91147	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	TMEM67	91147	HP:0002553	Highly arched eyebrow
OMIM:213300	TMEM67	91147	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	TMEM67	91147	HP:0002876	Episodic tachypnea
OMIM:213300	TMEM67	91147	HP:0000286	Epicanthus
OMIM:213300	TMEM67	91147	HP:0000107	Renal cyst
OMIM:213300	TMEM67	91147	HP:0000463	Anteverted nares
OMIM:213300	TMEM67	91147	HP:0000588	Optic nerve coloboma
OMIM:213300	TMEM67	91147	HP:0010828	Hemifacial spasm
OMIM:213300	TMEM67	91147	HP:0200096	Triangular-shaped open mouth
OMIM:213300	TMEM67	91147	HP:0001251	Ataxia
OMIM:213300	TMEM67	91147	HP:0001395	Hepatic fibrosis
OMIM:213300	TMEM67	91147	HP:0002508	Brainstem dysplasia
OMIM:213300	TMEM67	91147	HP:0000567	Chorioretinal coloboma
OMIM:213300	TMEM67	91147	HP:0000556	Retinal dystrophy
OMIM:213300	TMEM67	91147	HP:0001249	Intellectual disability
OMIM:213300	TMEM67	91147	HP:0000256	Macrocephaly
OMIM:213300	TMEM67	91147	HP:0000752	Hyperactivity
OMIM:213300	TMEM67	91147	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	TMEM67	91147	HP:0000718	Aggressive behavior
OMIM:213300	TMEM67	91147	HP:0000742	Self-mutilation
OMIM:213300	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:213300	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
OMIM:213300	TMEM67	91147	HP:0007271	Occipital myelomeningocele
OMIM:213300	TMEM67	91147	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:213300	INPP5E	56623	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	INPP5E	56623	HP:0010808	Protruding tongue
OMIM:213300	INPP5E	56623	HP:0000369	Low-set ears
OMIM:213300	INPP5E	56623	HP:0007973	Retinal dysplasia
OMIM:213300	INPP5E	56623	HP:0001252	Muscular hypotonia
OMIM:213300	INPP5E	56623	HP:0001760	Abnormality of the foot
OMIM:213300	INPP5E	56623	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	INPP5E	56623	HP:0007772	Impaired smooth pursuit
OMIM:213300	INPP5E	56623	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	INPP5E	56623	HP:0001425	Heterogeneous
OMIM:213300	INPP5E	56623	HP:0011220	Prominent forehead
OMIM:213300	INPP5E	56623	HP:0000158	Macroglossia
OMIM:213300	INPP5E	56623	HP:0000657	Oculomotor apraxia
OMIM:213300	INPP5E	56623	HP:0002419	Molar tooth sign on MRI
OMIM:213300	INPP5E	56623	HP:0002871	Central apnea
OMIM:213300	INPP5E	56623	HP:0000508	Ptosis
OMIM:213300	INPP5E	56623	HP:0003812	Phenotypic variability
OMIM:213300	INPP5E	56623	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	INPP5E	56623	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	INPP5E	56623	HP:0002553	Highly arched eyebrow
OMIM:213300	INPP5E	56623	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	INPP5E	56623	HP:0002876	Episodic tachypnea
OMIM:213300	INPP5E	56623	HP:0000286	Epicanthus
OMIM:213300	INPP5E	56623	HP:0000107	Renal cyst
OMIM:213300	INPP5E	56623	HP:0000463	Anteverted nares
OMIM:213300	INPP5E	56623	HP:0000588	Optic nerve coloboma
OMIM:213300	INPP5E	56623	HP:0010828	Hemifacial spasm
OMIM:213300	INPP5E	56623	HP:0200096	Triangular-shaped open mouth
OMIM:213300	INPP5E	56623	HP:0001251	Ataxia
OMIM:213300	INPP5E	56623	HP:0001395	Hepatic fibrosis
OMIM:213300	INPP5E	56623	HP:0002508	Brainstem dysplasia
OMIM:213300	INPP5E	56623	HP:0000567	Chorioretinal coloboma
OMIM:213300	INPP5E	56623	HP:0000556	Retinal dystrophy
OMIM:213300	INPP5E	56623	HP:0001249	Intellectual disability
OMIM:213300	INPP5E	56623	HP:0000256	Macrocephaly
OMIM:213300	INPP5E	56623	HP:0000752	Hyperactivity
OMIM:213300	INPP5E	56623	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	INPP5E	56623	HP:0000718	Aggressive behavior
OMIM:213300	INPP5E	56623	HP:0000742	Self-mutilation
OMIM:213300	INPP5E	56623	HP:0001263	Global developmental delay
OMIM:213300	INPP5E	56623	HP:0001162	Postaxial hand polydactyly
OMIM:213300	INPP5E	56623	HP:0007271	Occipital myelomeningocele
OMIM:213300	INPP5E	56623	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:213300	TCTN1	79600	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	TCTN1	79600	HP:0010808	Protruding tongue
OMIM:213300	TCTN1	79600	HP:0000369	Low-set ears
OMIM:213300	TCTN1	79600	HP:0007973	Retinal dysplasia
OMIM:213300	TCTN1	79600	HP:0001252	Muscular hypotonia
OMIM:213300	TCTN1	79600	HP:0001760	Abnormality of the foot
OMIM:213300	TCTN1	79600	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	TCTN1	79600	HP:0007772	Impaired smooth pursuit
OMIM:213300	TCTN1	79600	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	TCTN1	79600	HP:0001425	Heterogeneous
OMIM:213300	TCTN1	79600	HP:0011220	Prominent forehead
OMIM:213300	TCTN1	79600	HP:0000158	Macroglossia
OMIM:213300	TCTN1	79600	HP:0000657	Oculomotor apraxia
OMIM:213300	TCTN1	79600	HP:0002419	Molar tooth sign on MRI
OMIM:213300	TCTN1	79600	HP:0002871	Central apnea
OMIM:213300	TCTN1	79600	HP:0000508	Ptosis
OMIM:213300	TCTN1	79600	HP:0003812	Phenotypic variability
OMIM:213300	TCTN1	79600	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	TCTN1	79600	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	TCTN1	79600	HP:0002553	Highly arched eyebrow
OMIM:213300	TCTN1	79600	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	TCTN1	79600	HP:0002876	Episodic tachypnea
OMIM:213300	TCTN1	79600	HP:0000286	Epicanthus
OMIM:213300	TCTN1	79600	HP:0000107	Renal cyst
OMIM:213300	TCTN1	79600	HP:0000463	Anteverted nares
OMIM:213300	TCTN1	79600	HP:0000588	Optic nerve coloboma
OMIM:213300	TCTN1	79600	HP:0010828	Hemifacial spasm
OMIM:213300	TCTN1	79600	HP:0200096	Triangular-shaped open mouth
OMIM:213300	TCTN1	79600	HP:0001251	Ataxia
OMIM:213300	TCTN1	79600	HP:0001395	Hepatic fibrosis
OMIM:213300	TCTN1	79600	HP:0002508	Brainstem dysplasia
OMIM:213300	TCTN1	79600	HP:0000567	Chorioretinal coloboma
OMIM:213300	TCTN1	79600	HP:0000556	Retinal dystrophy
OMIM:213300	TCTN1	79600	HP:0001249	Intellectual disability
OMIM:213300	TCTN1	79600	HP:0000256	Macrocephaly
OMIM:213300	TCTN1	79600	HP:0000752	Hyperactivity
OMIM:213300	TCTN1	79600	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	TCTN1	79600	HP:0000718	Aggressive behavior
OMIM:213300	TCTN1	79600	HP:0000742	Self-mutilation
OMIM:213300	TCTN1	79600	HP:0001263	Global developmental delay
OMIM:213300	TCTN1	79600	HP:0001162	Postaxial hand polydactyly
OMIM:213300	TCTN1	79600	HP:0007271	Occipital myelomeningocele
OMIM:213300	TCTN1	79600	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	AHI1	54806	HP:0000007	Autosomal recessive inheritance
OMIM:213300	AHI1	54806	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	AHI1	54806	HP:0010808	Protruding tongue
OMIM:213300	AHI1	54806	HP:0000369	Low-set ears
OMIM:213300	AHI1	54806	HP:0007973	Retinal dysplasia
OMIM:213300	AHI1	54806	HP:0001252	Muscular hypotonia
OMIM:213300	AHI1	54806	HP:0001760	Abnormality of the foot
OMIM:213300	AHI1	54806	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	AHI1	54806	HP:0007772	Impaired smooth pursuit
OMIM:213300	AHI1	54806	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	AHI1	54806	HP:0001425	Heterogeneous
OMIM:213300	AHI1	54806	HP:0011220	Prominent forehead
OMIM:213300	AHI1	54806	HP:0000158	Macroglossia
OMIM:213300	AHI1	54806	HP:0000657	Oculomotor apraxia
OMIM:213300	AHI1	54806	HP:0002419	Molar tooth sign on MRI
OMIM:213300	AHI1	54806	HP:0002871	Central apnea
OMIM:213300	AHI1	54806	HP:0000508	Ptosis
OMIM:213300	AHI1	54806	HP:0003812	Phenotypic variability
OMIM:213300	AHI1	54806	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	AHI1	54806	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	AHI1	54806	HP:0002553	Highly arched eyebrow
OMIM:213300	AHI1	54806	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	AHI1	54806	HP:0002876	Episodic tachypnea
OMIM:213300	AHI1	54806	HP:0000286	Epicanthus
OMIM:213300	AHI1	54806	HP:0000107	Renal cyst
OMIM:213300	AHI1	54806	HP:0000463	Anteverted nares
OMIM:213300	AHI1	54806	HP:0000588	Optic nerve coloboma
OMIM:213300	AHI1	54806	HP:0010828	Hemifacial spasm
OMIM:213300	AHI1	54806	HP:0200096	Triangular-shaped open mouth
OMIM:213300	AHI1	54806	HP:0001251	Ataxia
OMIM:213300	AHI1	54806	HP:0001395	Hepatic fibrosis
OMIM:213300	AHI1	54806	HP:0002508	Brainstem dysplasia
OMIM:213300	AHI1	54806	HP:0000567	Chorioretinal coloboma
OMIM:213300	AHI1	54806	HP:0000556	Retinal dystrophy
OMIM:213300	AHI1	54806	HP:0001249	Intellectual disability
OMIM:213300	AHI1	54806	HP:0000256	Macrocephaly
OMIM:213300	AHI1	54806	HP:0000752	Hyperactivity
OMIM:213300	AHI1	54806	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	AHI1	54806	HP:0000718	Aggressive behavior
OMIM:213300	AHI1	54806	HP:0000742	Self-mutilation
OMIM:213300	AHI1	54806	HP:0001263	Global developmental delay
OMIM:213300	AHI1	54806	HP:0001162	Postaxial hand polydactyly
OMIM:213300	AHI1	54806	HP:0007271	Occipital myelomeningocele
OMIM:213300	AHI1	54806	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:213300	MKS1	54903	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	MKS1	54903	HP:0010808	Protruding tongue
OMIM:213300	MKS1	54903	HP:0000369	Low-set ears
OMIM:213300	MKS1	54903	HP:0007973	Retinal dysplasia
OMIM:213300	MKS1	54903	HP:0001252	Muscular hypotonia
OMIM:213300	MKS1	54903	HP:0001760	Abnormality of the foot
OMIM:213300	MKS1	54903	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	MKS1	54903	HP:0007772	Impaired smooth pursuit
OMIM:213300	MKS1	54903	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	MKS1	54903	HP:0001425	Heterogeneous
OMIM:213300	MKS1	54903	HP:0011220	Prominent forehead
OMIM:213300	MKS1	54903	HP:0000158	Macroglossia
OMIM:213300	MKS1	54903	HP:0000657	Oculomotor apraxia
OMIM:213300	MKS1	54903	HP:0002419	Molar tooth sign on MRI
OMIM:213300	MKS1	54903	HP:0002871	Central apnea
OMIM:213300	MKS1	54903	HP:0000508	Ptosis
OMIM:213300	MKS1	54903	HP:0003812	Phenotypic variability
OMIM:213300	MKS1	54903	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	MKS1	54903	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	MKS1	54903	HP:0002553	Highly arched eyebrow
OMIM:213300	MKS1	54903	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	MKS1	54903	HP:0002876	Episodic tachypnea
OMIM:213300	MKS1	54903	HP:0000286	Epicanthus
OMIM:213300	MKS1	54903	HP:0000107	Renal cyst
OMIM:213300	MKS1	54903	HP:0000463	Anteverted nares
OMIM:213300	MKS1	54903	HP:0000588	Optic nerve coloboma
OMIM:213300	MKS1	54903	HP:0010828	Hemifacial spasm
OMIM:213300	MKS1	54903	HP:0200096	Triangular-shaped open mouth
OMIM:213300	MKS1	54903	HP:0001251	Ataxia
OMIM:213300	MKS1	54903	HP:0001395	Hepatic fibrosis
OMIM:213300	MKS1	54903	HP:0002508	Brainstem dysplasia
OMIM:213300	MKS1	54903	HP:0000567	Chorioretinal coloboma
OMIM:213300	MKS1	54903	HP:0000556	Retinal dystrophy
OMIM:213300	MKS1	54903	HP:0001249	Intellectual disability
OMIM:213300	MKS1	54903	HP:0000256	Macrocephaly
OMIM:213300	MKS1	54903	HP:0000752	Hyperactivity
OMIM:213300	MKS1	54903	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	MKS1	54903	HP:0000718	Aggressive behavior
OMIM:213300	MKS1	54903	HP:0000742	Self-mutilation
OMIM:213300	MKS1	54903	HP:0001263	Global developmental delay
OMIM:213300	MKS1	54903	HP:0001162	Postaxial hand polydactyly
OMIM:213300	MKS1	54903	HP:0007271	Occipital myelomeningocele
OMIM:213300	MKS1	54903	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:213300	TCTN2	79867	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	TCTN2	79867	HP:0010808	Protruding tongue
OMIM:213300	TCTN2	79867	HP:0000369	Low-set ears
OMIM:213300	TCTN2	79867	HP:0007973	Retinal dysplasia
OMIM:213300	TCTN2	79867	HP:0001252	Muscular hypotonia
OMIM:213300	TCTN2	79867	HP:0001760	Abnormality of the foot
OMIM:213300	TCTN2	79867	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	TCTN2	79867	HP:0007772	Impaired smooth pursuit
OMIM:213300	TCTN2	79867	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	TCTN2	79867	HP:0001425	Heterogeneous
OMIM:213300	TCTN2	79867	HP:0011220	Prominent forehead
OMIM:213300	TCTN2	79867	HP:0000158	Macroglossia
OMIM:213300	TCTN2	79867	HP:0000657	Oculomotor apraxia
OMIM:213300	TCTN2	79867	HP:0002419	Molar tooth sign on MRI
OMIM:213300	TCTN2	79867	HP:0002871	Central apnea
OMIM:213300	TCTN2	79867	HP:0000508	Ptosis
OMIM:213300	TCTN2	79867	HP:0003812	Phenotypic variability
OMIM:213300	TCTN2	79867	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	TCTN2	79867	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	TCTN2	79867	HP:0002553	Highly arched eyebrow
OMIM:213300	TCTN2	79867	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	TCTN2	79867	HP:0002876	Episodic tachypnea
OMIM:213300	TCTN2	79867	HP:0000286	Epicanthus
OMIM:213300	TCTN2	79867	HP:0000107	Renal cyst
OMIM:213300	TCTN2	79867	HP:0000463	Anteverted nares
OMIM:213300	TCTN2	79867	HP:0000588	Optic nerve coloboma
OMIM:213300	TCTN2	79867	HP:0010828	Hemifacial spasm
OMIM:213300	TCTN2	79867	HP:0200096	Triangular-shaped open mouth
OMIM:213300	TCTN2	79867	HP:0001251	Ataxia
OMIM:213300	TCTN2	79867	HP:0001395	Hepatic fibrosis
OMIM:213300	TCTN2	79867	HP:0002508	Brainstem dysplasia
OMIM:213300	TCTN2	79867	HP:0000567	Chorioretinal coloboma
OMIM:213300	TCTN2	79867	HP:0000556	Retinal dystrophy
OMIM:213300	TCTN2	79867	HP:0001249	Intellectual disability
OMIM:213300	TCTN2	79867	HP:0000256	Macrocephaly
OMIM:213300	TCTN2	79867	HP:0000752	Hyperactivity
OMIM:213300	TCTN2	79867	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	TCTN2	79867	HP:0000718	Aggressive behavior
OMIM:213300	TCTN2	79867	HP:0000742	Self-mutilation
OMIM:213300	TCTN2	79867	HP:0001263	Global developmental delay
OMIM:213300	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
OMIM:213300	TCTN2	79867	HP:0007271	Occipital myelomeningocele
OMIM:213300	TCTN2	79867	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	KIAA0586	9786	HP:0000007	Autosomal recessive inheritance
OMIM:213300	KIAA0586	9786	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	KIAA0586	9786	HP:0010808	Protruding tongue
OMIM:213300	KIAA0586	9786	HP:0000369	Low-set ears
OMIM:213300	KIAA0586	9786	HP:0007973	Retinal dysplasia
OMIM:213300	KIAA0586	9786	HP:0001252	Muscular hypotonia
OMIM:213300	KIAA0586	9786	HP:0001760	Abnormality of the foot
OMIM:213300	KIAA0586	9786	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	KIAA0586	9786	HP:0007772	Impaired smooth pursuit
OMIM:213300	KIAA0586	9786	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	KIAA0586	9786	HP:0001425	Heterogeneous
OMIM:213300	KIAA0586	9786	HP:0011220	Prominent forehead
OMIM:213300	KIAA0586	9786	HP:0000158	Macroglossia
OMIM:213300	KIAA0586	9786	HP:0000657	Oculomotor apraxia
OMIM:213300	KIAA0586	9786	HP:0002419	Molar tooth sign on MRI
OMIM:213300	KIAA0586	9786	HP:0002871	Central apnea
OMIM:213300	KIAA0586	9786	HP:0000508	Ptosis
OMIM:213300	KIAA0586	9786	HP:0003812	Phenotypic variability
OMIM:213300	KIAA0586	9786	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	KIAA0586	9786	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	KIAA0586	9786	HP:0002553	Highly arched eyebrow
OMIM:213300	KIAA0586	9786	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	KIAA0586	9786	HP:0002876	Episodic tachypnea
OMIM:213300	KIAA0586	9786	HP:0000286	Epicanthus
OMIM:213300	KIAA0586	9786	HP:0000107	Renal cyst
OMIM:213300	KIAA0586	9786	HP:0000463	Anteverted nares
OMIM:213300	KIAA0586	9786	HP:0000588	Optic nerve coloboma
OMIM:213300	KIAA0586	9786	HP:0010828	Hemifacial spasm
OMIM:213300	KIAA0586	9786	HP:0200096	Triangular-shaped open mouth
OMIM:213300	KIAA0586	9786	HP:0001251	Ataxia
OMIM:213300	KIAA0586	9786	HP:0001395	Hepatic fibrosis
OMIM:213300	KIAA0586	9786	HP:0002508	Brainstem dysplasia
OMIM:213300	KIAA0586	9786	HP:0000567	Chorioretinal coloboma
OMIM:213300	KIAA0586	9786	HP:0000556	Retinal dystrophy
OMIM:213300	KIAA0586	9786	HP:0001249	Intellectual disability
OMIM:213300	KIAA0586	9786	HP:0000256	Macrocephaly
OMIM:213300	KIAA0586	9786	HP:0000752	Hyperactivity
OMIM:213300	KIAA0586	9786	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	KIAA0586	9786	HP:0000718	Aggressive behavior
OMIM:213300	KIAA0586	9786	HP:0000742	Self-mutilation
OMIM:213300	KIAA0586	9786	HP:0001263	Global developmental delay
OMIM:213300	KIAA0586	9786	HP:0001162	Postaxial hand polydactyly
OMIM:213300	KIAA0586	9786	HP:0007271	Occipital myelomeningocele
OMIM:213300	KIAA0586	9786	HP:0000570	Abnormality of saccadic eye movements
OMIM:213300	ARL13B	200894	HP:0000007	Autosomal recessive inheritance
OMIM:213300	ARL13B	200894	HP:0001320	Cerebellar vermis hypoplasia
OMIM:213300	ARL13B	200894	HP:0010808	Protruding tongue
OMIM:213300	ARL13B	200894	HP:0000369	Low-set ears
OMIM:213300	ARL13B	200894	HP:0007973	Retinal dysplasia
OMIM:213300	ARL13B	200894	HP:0001252	Muscular hypotonia
OMIM:213300	ARL13B	200894	HP:0001760	Abnormality of the foot
OMIM:213300	ARL13B	200894	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:213300	ARL13B	200894	HP:0007772	Impaired smooth pursuit
OMIM:213300	ARL13B	200894	HP:0011933	Elongated superior cerebellar peduncle
OMIM:213300	ARL13B	200894	HP:0001425	Heterogeneous
OMIM:213300	ARL13B	200894	HP:0011220	Prominent forehead
OMIM:213300	ARL13B	200894	HP:0000158	Macroglossia
OMIM:213300	ARL13B	200894	HP:0000657	Oculomotor apraxia
OMIM:213300	ARL13B	200894	HP:0002419	Molar tooth sign on MRI
OMIM:213300	ARL13B	200894	HP:0002871	Central apnea
OMIM:213300	ARL13B	200894	HP:0000508	Ptosis
OMIM:213300	ARL13B	200894	HP:0003812	Phenotypic variability
OMIM:213300	ARL13B	200894	HP:0002335	Agenesis of cerebellar vermis
OMIM:213300	ARL13B	200894	HP:0100951	Enlarged fossa interpeduncularis
OMIM:213300	ARL13B	200894	HP:0002553	Highly arched eyebrow
OMIM:213300	ARL13B	200894	HP:0002790	Neonatal breathing dysregulation
OMIM:213300	ARL13B	200894	HP:0002876	Episodic tachypnea
OMIM:213300	ARL13B	200894	HP:0000286	Epicanthus
OMIM:213300	ARL13B	200894	HP:0000107	Renal cyst
OMIM:213300	ARL13B	200894	HP:0000463	Anteverted nares
OMIM:213300	ARL13B	200894	HP:0000588	Optic nerve coloboma
OMIM:213300	ARL13B	200894	HP:0010828	Hemifacial spasm
OMIM:213300	ARL13B	200894	HP:0200096	Triangular-shaped open mouth
OMIM:213300	ARL13B	200894	HP:0001251	Ataxia
OMIM:213300	ARL13B	200894	HP:0001395	Hepatic fibrosis
OMIM:213300	ARL13B	200894	HP:0002508	Brainstem dysplasia
OMIM:213300	ARL13B	200894	HP:0000567	Chorioretinal coloboma
OMIM:213300	ARL13B	200894	HP:0000556	Retinal dystrophy
OMIM:213300	ARL13B	200894	HP:0001249	Intellectual disability
OMIM:213300	ARL13B	200894	HP:0000256	Macrocephaly
OMIM:213300	ARL13B	200894	HP:0000752	Hyperactivity
OMIM:213300	ARL13B	200894	HP:0002365	Hypoplasia of the brainstem
OMIM:213300	ARL13B	200894	HP:0000718	Aggressive behavior
OMIM:213300	ARL13B	200894	HP:0000742	Self-mutilation
OMIM:213300	ARL13B	200894	HP:0001263	Global developmental delay
OMIM:213300	ARL13B	200894	HP:0001162	Postaxial hand polydactyly
OMIM:213300	ARL13B	200894	HP:0007271	Occipital myelomeningocele
OMIM:213300	ARL13B	200894	HP:0000570	Abnormality of saccadic eye movements
OMIM:176920	PTEN	5728	HP:0001004	Lymphedema
OMIM:176920	PTEN	5728	HP:0010788	Testicular neoplasm
OMIM:176920	PTEN	5728	HP:0000962	Hyperkeratosis
OMIM:176920	PTEN	5728	HP:0000368	Low-set, posteriorly rotated ears
OMIM:176920	PTEN	5728	HP:0001100	Heterochromia iridis
OMIM:176920	PTEN	5728	HP:0010497	Sirenomelia
OMIM:176920	PTEN	5728	HP:0000256	Macrocephaly
OMIM:176920	PTEN	5728	HP:0002751	Kyphoscoliosis
OMIM:176920	PTEN	5728	HP:0003745	Sporadic
OMIM:176920	PTEN	5728	HP:0003416	Spinal canal stenosis
OMIM:176920	PTEN	5728	HP:0005280	Depressed nasal bridge
OMIM:176920	PTEN	5728	HP:0000464	Abnormality of the neck
OMIM:176920	PTEN	5728	HP:0003019	Abnormality of the wrist
OMIM:176920	PTEN	5728	HP:0003272	Abnormality of the hip bone
OMIM:176920	PTEN	5728	HP:0006101	Finger syndactyly
OMIM:176920	PTEN	5728	HP:0001883	Talipes
OMIM:176920	PTEN	5728	HP:0003764	Nevus
OMIM:176920	PTEN	5728	HP:0001744	Splenomegaly
OMIM:176920	PTEN	5728	HP:0002808	Kyphosis
OMIM:176920	PTEN	5728	HP:0000107	Renal cyst
OMIM:176920	PTEN	5728	HP:0000508	Ptosis
OMIM:176920	PTEN	5728	HP:0000494	Downslanted palpebral fissures
OMIM:176920	PTEN	5728	HP:0003312	Abnormal form of the vertebral bodies
OMIM:176920	PTEN	5728	HP:0000545	Myopia
OMIM:176920	PTEN	5728	HP:0002204	Pulmonary embolism
OMIM:176920	PTEN	5728	HP:0000147	Polycystic ovaries
OMIM:176920	PTEN	5728	HP:0000541	Retinal detachment
OMIM:176920	PTEN	5728	HP:0009804	Reduced number of teeth
OMIM:176920	PTEN	5728	HP:0000557	Buphthalmos
OMIM:176920	PTEN	5728	HP:0002176	Spinal cord compression
OMIM:176920	PTEN	5728	HP:0100777	Exostoses
OMIM:176920	PTEN	5728	HP:0000040	Long penis
OMIM:176920	PTEN	5728	HP:0002342	Intellectual disability, moderate
OMIM:176920	PTEN	5728	HP:0001028	Hemangioma
OMIM:176920	PTEN	5728	HP:0004325	Decreased body weight
OMIM:176920	PTEN	5728	HP:0001363	Craniosynostosis
OMIM:176920	PTEN	5728	HP:0000998	Hypertrichosis
OMIM:176920	PTEN	5728	HP:0100543	Cognitive impairment
OMIM:176920	PTEN	5728	HP:0100615	Ovarian neoplasm
OMIM:176920	PTEN	5728	HP:0000268	Dolichocephaly
OMIM:176920	PTEN	5728	HP:0000567	Chorioretinal coloboma
OMIM:176920	PTEN	5728	HP:0000053	Macroorchidism
OMIM:176920	PTEN	5728	HP:0007440	Generalized hyperpigmentation
OMIM:176920	PTEN	5728	HP:0002652	Skeletal dysplasia
OMIM:176920	PTEN	5728	HP:0000276	Long face
OMIM:176920	PTEN	5728	HP:0007400	Irregular hyperpigmentation
OMIM:176920	PTEN	5728	HP:0002650	Scoliosis
OMIM:176920	PTEN	5728	HP:0003202	Skeletal muscle atrophy
OMIM:176920	PTEN	5728	HP:0001376	Limitation of joint mobility
OMIM:176920	PTEN	5728	HP:0001555	Asymmetry of the thorax
OMIM:176920	PTEN	5728	HP:0000194	Open mouth
OMIM:176920	PTEN	5728	HP:0000520	Proptosis
OMIM:176920	PTEN	5728	HP:0000098	Tall stature
OMIM:176920	PTEN	5728	HP:0000670	Carious teeth
OMIM:176920	PTEN	5728	HP:0001597	Abnormality of the nail
OMIM:176920	PTEN	5728	HP:0000316	Hypertelorism
OMIM:176920	PTEN	5728	HP:0004209	Clinodactyly of the 5th finger
OMIM:176920	PTEN	5728	HP:0001822	Hallux valgus
OMIM:176920	PTEN	5728	HP:0003198	Myopathy
OMIM:176920	PTEN	5728	HP:0000413	Atresia of the external auditory canal
OMIM:176920	PTEN	5728	HP:0007703	Abnormality of retinal pigmentation
OMIM:176920	PTEN	5728	HP:0000486	Strabismus
OMIM:176920	PTEN	5728	HP:0001250	Seizures
OMIM:176920	PTEN	5728	HP:0010978	Abnormality of immune system physiology
OMIM:176920	PTEN	5728	HP:0000518	Cataract
OMIM:176920	PTEN	5728	HP:0002858	Meningioma
OMIM:176920	PTEN	5728	HP:0004420	Arterial thrombosis
OMIM:176920	PTEN	5728	HP:0000995	Melanocytic nevus
OMIM:176920	PTEN	5728	HP:0100026	Arteriovenous malformation
OMIM:176920	PTEN	5728	HP:0000957	Cafe-au-lait spot
OMIM:176920	PTEN	5728	HP:0000463	Anteverted nares
OMIM:176920	PTEN	5728	HP:0001645	Sudden cardiac death
OMIM:176920	PTEN	5728	HP:0000682	Abnormality of dental enamel
OMIM:176920	PTEN	5728	HP:0100526	Neoplasm of the lung
OMIM:176920	AKT1	207	HP:0001004	Lymphedema
OMIM:176920	AKT1	207	HP:0010788	Testicular neoplasm
OMIM:176920	AKT1	207	HP:0000962	Hyperkeratosis
OMIM:176920	AKT1	207	HP:0000368	Low-set, posteriorly rotated ears
OMIM:176920	AKT1	207	HP:0001100	Heterochromia iridis
OMIM:176920	AKT1	207	HP:0010497	Sirenomelia
OMIM:176920	AKT1	207	HP:0000256	Macrocephaly
OMIM:176920	AKT1	207	HP:0002751	Kyphoscoliosis
OMIM:176920	AKT1	207	HP:0003745	Sporadic
OMIM:176920	AKT1	207	HP:0003416	Spinal canal stenosis
OMIM:176920	AKT1	207	HP:0005280	Depressed nasal bridge
OMIM:176920	AKT1	207	HP:0000464	Abnormality of the neck
OMIM:176920	AKT1	207	HP:0003019	Abnormality of the wrist
OMIM:176920	AKT1	207	HP:0003272	Abnormality of the hip bone
OMIM:176920	AKT1	207	HP:0006101	Finger syndactyly
OMIM:176920	AKT1	207	HP:0001883	Talipes
OMIM:176920	AKT1	207	HP:0003764	Nevus
OMIM:176920	AKT1	207	HP:0001744	Splenomegaly
OMIM:176920	AKT1	207	HP:0002808	Kyphosis
OMIM:176920	AKT1	207	HP:0000107	Renal cyst
OMIM:176920	AKT1	207	HP:0000508	Ptosis
OMIM:176920	AKT1	207	HP:0000494	Downslanted palpebral fissures
OMIM:176920	AKT1	207	HP:0003312	Abnormal form of the vertebral bodies
OMIM:176920	AKT1	207	HP:0000545	Myopia
OMIM:176920	AKT1	207	HP:0002204	Pulmonary embolism
OMIM:176920	AKT1	207	HP:0000147	Polycystic ovaries
OMIM:176920	AKT1	207	HP:0000541	Retinal detachment
OMIM:176920	AKT1	207	HP:0009804	Reduced number of teeth
OMIM:176920	AKT1	207	HP:0000557	Buphthalmos
OMIM:176920	AKT1	207	HP:0002176	Spinal cord compression
OMIM:176920	AKT1	207	HP:0100777	Exostoses
OMIM:176920	AKT1	207	HP:0000040	Long penis
OMIM:176920	AKT1	207	HP:0002342	Intellectual disability, moderate
OMIM:176920	AKT1	207	HP:0001028	Hemangioma
OMIM:176920	AKT1	207	HP:0004325	Decreased body weight
OMIM:176920	AKT1	207	HP:0001363	Craniosynostosis
OMIM:176920	AKT1	207	HP:0000998	Hypertrichosis
OMIM:176920	AKT1	207	HP:0100543	Cognitive impairment
OMIM:176920	AKT1	207	HP:0100615	Ovarian neoplasm
OMIM:176920	AKT1	207	HP:0000268	Dolichocephaly
OMIM:176920	AKT1	207	HP:0000567	Chorioretinal coloboma
OMIM:176920	AKT1	207	HP:0000053	Macroorchidism
OMIM:176920	AKT1	207	HP:0007440	Generalized hyperpigmentation
OMIM:176920	AKT1	207	HP:0002652	Skeletal dysplasia
OMIM:176920	AKT1	207	HP:0000276	Long face
OMIM:176920	AKT1	207	HP:0007400	Irregular hyperpigmentation
OMIM:176920	AKT1	207	HP:0002650	Scoliosis
OMIM:176920	AKT1	207	HP:0003202	Skeletal muscle atrophy
OMIM:176920	AKT1	207	HP:0001376	Limitation of joint mobility
OMIM:176920	AKT1	207	HP:0001555	Asymmetry of the thorax
OMIM:176920	AKT1	207	HP:0000194	Open mouth
OMIM:176920	AKT1	207	HP:0000520	Proptosis
OMIM:176920	AKT1	207	HP:0000098	Tall stature
OMIM:176920	AKT1	207	HP:0000670	Carious teeth
OMIM:176920	AKT1	207	HP:0001597	Abnormality of the nail
OMIM:176920	AKT1	207	HP:0000316	Hypertelorism
OMIM:176920	AKT1	207	HP:0004209	Clinodactyly of the 5th finger
OMIM:176920	AKT1	207	HP:0001822	Hallux valgus
OMIM:176920	AKT1	207	HP:0003198	Myopathy
OMIM:176920	AKT1	207	HP:0000413	Atresia of the external auditory canal
OMIM:176920	AKT1	207	HP:0007703	Abnormality of retinal pigmentation
OMIM:176920	AKT1	207	HP:0000486	Strabismus
OMIM:176920	AKT1	207	HP:0001250	Seizures
OMIM:176920	AKT1	207	HP:0010978	Abnormality of immune system physiology
OMIM:176920	AKT1	207	HP:0000518	Cataract
OMIM:176920	AKT1	207	HP:0002858	Meningioma
OMIM:176920	AKT1	207	HP:0004420	Arterial thrombosis
OMIM:176920	AKT1	207	HP:0000995	Melanocytic nevus
OMIM:176920	AKT1	207	HP:0100026	Arteriovenous malformation
OMIM:176920	AKT1	207	HP:0000957	Cafe-au-lait spot
OMIM:176920	AKT1	207	HP:0000463	Anteverted nares
OMIM:176920	AKT1	207	HP:0001645	Sudden cardiac death
OMIM:176920	AKT1	207	HP:0000682	Abnormality of dental enamel
OMIM:176920	AKT1	207	HP:0100526	Neoplasm of the lung
OMIM:300489	ATP7A	538	HP:0002460	Distal muscle weakness
OMIM:300489	ATP7A	538	HP:0002317	Unsteady gait
OMIM:300489	ATP7A	538	HP:0002936	Distal sensory impairment
OMIM:300489	ATP7A	538	HP:0000759	Abnormal peripheral nervous system morphology
OMIM:300489	ATP7A	538	HP:0003621	Juvenile onset
OMIM:300489	ATP7A	538	HP:0001265	Hyporeflexia
OMIM:300489	ATP7A	538	HP:0003693	Distal amyotrophy
OMIM:300489	ATP7A	538	HP:0001419	X-linked recessive inheritance
OMIM:300489	ATP7A	538	HP:0001761	Pes cavus
OMIM:300489	ATP7A	538	HP:0003677	Slow progression
OMIM:300489	ATP7A	538	HP:0003445	EMG: neuropathic changes
OMIM:300489	ATP7A	538	HP:0007269	Spinal muscular atrophy
OMIM:606070	TREM2	54209	HP:0002015	Dysphagia
OMIM:606070	TREM2	54209	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	TREM2	54209	HP:0001347	Hyperreflexia
OMIM:606070	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	TREM2	54209	HP:0001609	Hoarse voice
OMIM:606070	TREM2	54209	HP:0001283	Bulbar palsy
OMIM:606070	TREM2	54209	HP:0002460	Distal muscle weakness
OMIM:606070	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:606070	TREM2	54209	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	TREM2	54209	HP:0002936	Distal sensory impairment
OMIM:606070	TREM2	54209	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	TREM2	54209	HP:0002483	Bulbar signs
OMIM:606070	TREM2	54209	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	TREM2	54209	HP:0001260	Dysarthria
OMIM:606070	TREM2	54209	HP:0000726	Dementia
OMIM:606070	TREM2	54209	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	TREM2	54209	HP:0003805	Rimmed vacuoles
OMIM:606070	TREM2	54209	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	TREM2	54209	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	TREM2	54209	HP:0003828	Variable expressivity
OMIM:606070	TREM2	54209	HP:0003581	Adult onset
OMIM:606070	VAPB	9217	HP:0002015	Dysphagia
OMIM:606070	VAPB	9217	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	VAPB	9217	HP:0001347	Hyperreflexia
OMIM:606070	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	VAPB	9217	HP:0001609	Hoarse voice
OMIM:606070	VAPB	9217	HP:0001283	Bulbar palsy
OMIM:606070	VAPB	9217	HP:0002460	Distal muscle weakness
OMIM:606070	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:606070	VAPB	9217	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	VAPB	9217	HP:0002936	Distal sensory impairment
OMIM:606070	VAPB	9217	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	VAPB	9217	HP:0002483	Bulbar signs
OMIM:606070	VAPB	9217	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	VAPB	9217	HP:0001260	Dysarthria
OMIM:606070	VAPB	9217	HP:0000726	Dementia
OMIM:606070	VAPB	9217	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	VAPB	9217	HP:0003805	Rimmed vacuoles
OMIM:606070	VAPB	9217	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	VAPB	9217	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	VAPB	9217	HP:0003828	Variable expressivity
OMIM:606070	VAPB	9217	HP:0003581	Adult onset
OMIM:606070	PON1	5444	HP:0002015	Dysphagia
OMIM:606070	PON1	5444	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	PON1	5444	HP:0001347	Hyperreflexia
OMIM:606070	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	PON1	5444	HP:0001609	Hoarse voice
OMIM:606070	PON1	5444	HP:0001283	Bulbar palsy
OMIM:606070	PON1	5444	HP:0002460	Distal muscle weakness
OMIM:606070	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:606070	PON1	5444	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	PON1	5444	HP:0002936	Distal sensory impairment
OMIM:606070	PON1	5444	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	PON1	5444	HP:0002483	Bulbar signs
OMIM:606070	PON1	5444	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	PON1	5444	HP:0001260	Dysarthria
OMIM:606070	PON1	5444	HP:0000726	Dementia
OMIM:606070	PON1	5444	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	PON1	5444	HP:0003805	Rimmed vacuoles
OMIM:606070	PON1	5444	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	PON1	5444	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	PON1	5444	HP:0003828	Variable expressivity
OMIM:606070	PON1	5444	HP:0003581	Adult onset
OMIM:606070	PON2	5445	HP:0002015	Dysphagia
OMIM:606070	PON2	5445	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	PON2	5445	HP:0001347	Hyperreflexia
OMIM:606070	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	PON2	5445	HP:0001609	Hoarse voice
OMIM:606070	PON2	5445	HP:0001283	Bulbar palsy
OMIM:606070	PON2	5445	HP:0002460	Distal muscle weakness
OMIM:606070	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:606070	PON2	5445	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	PON2	5445	HP:0002936	Distal sensory impairment
OMIM:606070	PON2	5445	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	PON2	5445	HP:0002483	Bulbar signs
OMIM:606070	PON2	5445	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	PON2	5445	HP:0001260	Dysarthria
OMIM:606070	PON2	5445	HP:0000726	Dementia
OMIM:606070	PON2	5445	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	PON2	5445	HP:0003805	Rimmed vacuoles
OMIM:606070	PON2	5445	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	PON2	5445	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	PON2	5445	HP:0003828	Variable expressivity
OMIM:606070	PON2	5445	HP:0003581	Adult onset
OMIM:606070	PON3	5446	HP:0002015	Dysphagia
OMIM:606070	PON3	5446	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	PON3	5446	HP:0001347	Hyperreflexia
OMIM:606070	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	PON3	5446	HP:0001609	Hoarse voice
OMIM:606070	PON3	5446	HP:0001283	Bulbar palsy
OMIM:606070	PON3	5446	HP:0002460	Distal muscle weakness
OMIM:606070	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:606070	PON3	5446	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	PON3	5446	HP:0002936	Distal sensory impairment
OMIM:606070	PON3	5446	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	PON3	5446	HP:0002483	Bulbar signs
OMIM:606070	PON3	5446	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	PON3	5446	HP:0001260	Dysarthria
OMIM:606070	PON3	5446	HP:0000726	Dementia
OMIM:606070	PON3	5446	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	PON3	5446	HP:0003805	Rimmed vacuoles
OMIM:606070	PON3	5446	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	PON3	5446	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	PON3	5446	HP:0003828	Variable expressivity
OMIM:606070	PON3	5446	HP:0003581	Adult onset
OMIM:606070	NEFH	4744	HP:0002015	Dysphagia
OMIM:606070	NEFH	4744	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	NEFH	4744	HP:0001347	Hyperreflexia
OMIM:606070	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	NEFH	4744	HP:0001609	Hoarse voice
OMIM:606070	NEFH	4744	HP:0001283	Bulbar palsy
OMIM:606070	NEFH	4744	HP:0002460	Distal muscle weakness
OMIM:606070	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:606070	NEFH	4744	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	NEFH	4744	HP:0002936	Distal sensory impairment
OMIM:606070	NEFH	4744	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	NEFH	4744	HP:0002483	Bulbar signs
OMIM:606070	NEFH	4744	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	NEFH	4744	HP:0001260	Dysarthria
OMIM:606070	NEFH	4744	HP:0000726	Dementia
OMIM:606070	NEFH	4744	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	NEFH	4744	HP:0003805	Rimmed vacuoles
OMIM:606070	NEFH	4744	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	NEFH	4744	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	NEFH	4744	HP:0003828	Variable expressivity
OMIM:606070	NEFH	4744	HP:0003581	Adult onset
OMIM:606070	DAO	1610	HP:0002015	Dysphagia
OMIM:606070	DAO	1610	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	DAO	1610	HP:0001347	Hyperreflexia
OMIM:606070	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	DAO	1610	HP:0001609	Hoarse voice
OMIM:606070	DAO	1610	HP:0001283	Bulbar palsy
OMIM:606070	DAO	1610	HP:0002460	Distal muscle weakness
OMIM:606070	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:606070	DAO	1610	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	DAO	1610	HP:0002936	Distal sensory impairment
OMIM:606070	DAO	1610	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	DAO	1610	HP:0002483	Bulbar signs
OMIM:606070	DAO	1610	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	DAO	1610	HP:0001260	Dysarthria
OMIM:606070	DAO	1610	HP:0000726	Dementia
OMIM:606070	DAO	1610	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	DAO	1610	HP:0003805	Rimmed vacuoles
OMIM:606070	DAO	1610	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	DAO	1610	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	DAO	1610	HP:0003828	Variable expressivity
OMIM:606070	DAO	1610	HP:0003581	Adult onset
OMIM:606070	TARDBP	23435	HP:0002015	Dysphagia
OMIM:606070	TARDBP	23435	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	TARDBP	23435	HP:0001347	Hyperreflexia
OMIM:606070	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	TARDBP	23435	HP:0001609	Hoarse voice
OMIM:606070	TARDBP	23435	HP:0001283	Bulbar palsy
OMIM:606070	TARDBP	23435	HP:0002460	Distal muscle weakness
OMIM:606070	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:606070	TARDBP	23435	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	TARDBP	23435	HP:0002936	Distal sensory impairment
OMIM:606070	TARDBP	23435	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	TARDBP	23435	HP:0002483	Bulbar signs
OMIM:606070	TARDBP	23435	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	TARDBP	23435	HP:0001260	Dysarthria
OMIM:606070	TARDBP	23435	HP:0000726	Dementia
OMIM:606070	TARDBP	23435	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	TARDBP	23435	HP:0003805	Rimmed vacuoles
OMIM:606070	TARDBP	23435	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	TARDBP	23435	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	TARDBP	23435	HP:0003828	Variable expressivity
OMIM:606070	TARDBP	23435	HP:0003581	Adult onset
OMIM:606070	PPARGC1A	10891	HP:0002015	Dysphagia
OMIM:606070	PPARGC1A	10891	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	PPARGC1A	10891	HP:0001347	Hyperreflexia
OMIM:606070	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	PPARGC1A	10891	HP:0001609	Hoarse voice
OMIM:606070	PPARGC1A	10891	HP:0001283	Bulbar palsy
OMIM:606070	PPARGC1A	10891	HP:0002460	Distal muscle weakness
OMIM:606070	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:606070	PPARGC1A	10891	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	PPARGC1A	10891	HP:0002936	Distal sensory impairment
OMIM:606070	PPARGC1A	10891	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	PPARGC1A	10891	HP:0002483	Bulbar signs
OMIM:606070	PPARGC1A	10891	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	PPARGC1A	10891	HP:0001260	Dysarthria
OMIM:606070	PPARGC1A	10891	HP:0000726	Dementia
OMIM:606070	PPARGC1A	10891	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	PPARGC1A	10891	HP:0003805	Rimmed vacuoles
OMIM:606070	PPARGC1A	10891	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	PPARGC1A	10891	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	PPARGC1A	10891	HP:0003828	Variable expressivity
OMIM:606070	PPARGC1A	10891	HP:0003581	Adult onset
OMIM:606070	ERBB4	2066	HP:0002015	Dysphagia
OMIM:606070	ERBB4	2066	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	ERBB4	2066	HP:0001347	Hyperreflexia
OMIM:606070	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	ERBB4	2066	HP:0001609	Hoarse voice
OMIM:606070	ERBB4	2066	HP:0001283	Bulbar palsy
OMIM:606070	ERBB4	2066	HP:0002460	Distal muscle weakness
OMIM:606070	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:606070	ERBB4	2066	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	ERBB4	2066	HP:0002936	Distal sensory impairment
OMIM:606070	ERBB4	2066	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	ERBB4	2066	HP:0002483	Bulbar signs
OMIM:606070	ERBB4	2066	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	ERBB4	2066	HP:0001260	Dysarthria
OMIM:606070	ERBB4	2066	HP:0000726	Dementia
OMIM:606070	ERBB4	2066	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	ERBB4	2066	HP:0003805	Rimmed vacuoles
OMIM:606070	ERBB4	2066	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	ERBB4	2066	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	ERBB4	2066	HP:0003828	Variable expressivity
OMIM:606070	ERBB4	2066	HP:0003581	Adult onset
OMIM:606070	CHCHD10	400916	HP:0002015	Dysphagia
OMIM:606070	CHCHD10	400916	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	CHCHD10	400916	HP:0001347	Hyperreflexia
OMIM:606070	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	CHCHD10	400916	HP:0001609	Hoarse voice
OMIM:606070	CHCHD10	400916	HP:0001283	Bulbar palsy
OMIM:606070	CHCHD10	400916	HP:0002460	Distal muscle weakness
OMIM:606070	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:606070	CHCHD10	400916	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	CHCHD10	400916	HP:0002936	Distal sensory impairment
OMIM:606070	CHCHD10	400916	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	CHCHD10	400916	HP:0002483	Bulbar signs
OMIM:606070	CHCHD10	400916	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:606070	CHCHD10	400916	HP:0000726	Dementia
OMIM:606070	CHCHD10	400916	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	CHCHD10	400916	HP:0003805	Rimmed vacuoles
OMIM:606070	CHCHD10	400916	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	CHCHD10	400916	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	CHCHD10	400916	HP:0003828	Variable expressivity
OMIM:606070	CHCHD10	400916	HP:0003581	Adult onset
OMIM:606070	OPTN	10133	HP:0002015	Dysphagia
OMIM:606070	OPTN	10133	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	OPTN	10133	HP:0001347	Hyperreflexia
OMIM:606070	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	OPTN	10133	HP:0001609	Hoarse voice
OMIM:606070	OPTN	10133	HP:0001283	Bulbar palsy
OMIM:606070	OPTN	10133	HP:0002460	Distal muscle weakness
OMIM:606070	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:606070	OPTN	10133	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	OPTN	10133	HP:0002936	Distal sensory impairment
OMIM:606070	OPTN	10133	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	OPTN	10133	HP:0002483	Bulbar signs
OMIM:606070	OPTN	10133	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	OPTN	10133	HP:0001260	Dysarthria
OMIM:606070	OPTN	10133	HP:0000726	Dementia
OMIM:606070	OPTN	10133	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	OPTN	10133	HP:0003805	Rimmed vacuoles
OMIM:606070	OPTN	10133	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	OPTN	10133	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	OPTN	10133	HP:0003828	Variable expressivity
OMIM:606070	OPTN	10133	HP:0003581	Adult onset
OMIM:606070	FUS	2521	HP:0002015	Dysphagia
OMIM:606070	FUS	2521	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	FUS	2521	HP:0001347	Hyperreflexia
OMIM:606070	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	FUS	2521	HP:0001609	Hoarse voice
OMIM:606070	FUS	2521	HP:0001283	Bulbar palsy
OMIM:606070	FUS	2521	HP:0002460	Distal muscle weakness
OMIM:606070	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:606070	FUS	2521	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	FUS	2521	HP:0002936	Distal sensory impairment
OMIM:606070	FUS	2521	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	FUS	2521	HP:0002483	Bulbar signs
OMIM:606070	FUS	2521	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	FUS	2521	HP:0001260	Dysarthria
OMIM:606070	FUS	2521	HP:0000726	Dementia
OMIM:606070	FUS	2521	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	FUS	2521	HP:0003805	Rimmed vacuoles
OMIM:606070	FUS	2521	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	FUS	2521	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	FUS	2521	HP:0003828	Variable expressivity
OMIM:606070	FUS	2521	HP:0003581	Adult onset
OMIM:606070	UBQLN2	29978	HP:0002015	Dysphagia
OMIM:606070	UBQLN2	29978	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	UBQLN2	29978	HP:0001347	Hyperreflexia
OMIM:606070	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	UBQLN2	29978	HP:0001609	Hoarse voice
OMIM:606070	UBQLN2	29978	HP:0001283	Bulbar palsy
OMIM:606070	UBQLN2	29978	HP:0002460	Distal muscle weakness
OMIM:606070	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:606070	UBQLN2	29978	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	UBQLN2	29978	HP:0002936	Distal sensory impairment
OMIM:606070	UBQLN2	29978	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	UBQLN2	29978	HP:0002483	Bulbar signs
OMIM:606070	UBQLN2	29978	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	UBQLN2	29978	HP:0001260	Dysarthria
OMIM:606070	UBQLN2	29978	HP:0000726	Dementia
OMIM:606070	UBQLN2	29978	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	UBQLN2	29978	HP:0003805	Rimmed vacuoles
OMIM:606070	UBQLN2	29978	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	UBQLN2	29978	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	UBQLN2	29978	HP:0003828	Variable expressivity
OMIM:606070	UBQLN2	29978	HP:0003581	Adult onset
OMIM:606070	ANG	283	HP:0002015	Dysphagia
OMIM:606070	ANG	283	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	ANG	283	HP:0001347	Hyperreflexia
OMIM:606070	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	ANG	283	HP:0001609	Hoarse voice
OMIM:606070	ANG	283	HP:0001283	Bulbar palsy
OMIM:606070	ANG	283	HP:0002460	Distal muscle weakness
OMIM:606070	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:606070	ANG	283	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	ANG	283	HP:0002936	Distal sensory impairment
OMIM:606070	ANG	283	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	ANG	283	HP:0002483	Bulbar signs
OMIM:606070	ANG	283	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	ANG	283	HP:0001260	Dysarthria
OMIM:606070	ANG	283	HP:0000726	Dementia
OMIM:606070	ANG	283	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	ANG	283	HP:0003805	Rimmed vacuoles
OMIM:606070	ANG	283	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	ANG	283	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	ANG	283	HP:0003828	Variable expressivity
OMIM:606070	ANG	283	HP:0003581	Adult onset
OMIM:606070	C9ORF72	203228	HP:0002015	Dysphagia
OMIM:606070	C9ORF72	203228	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	C9ORF72	203228	HP:0001347	Hyperreflexia
OMIM:606070	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	C9ORF72	203228	HP:0001609	Hoarse voice
OMIM:606070	C9ORF72	203228	HP:0001283	Bulbar palsy
OMIM:606070	C9ORF72	203228	HP:0002460	Distal muscle weakness
OMIM:606070	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:606070	C9ORF72	203228	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	C9ORF72	203228	HP:0002936	Distal sensory impairment
OMIM:606070	C9ORF72	203228	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	C9ORF72	203228	HP:0002483	Bulbar signs
OMIM:606070	C9ORF72	203228	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:606070	C9ORF72	203228	HP:0000726	Dementia
OMIM:606070	C9ORF72	203228	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	C9ORF72	203228	HP:0003805	Rimmed vacuoles
OMIM:606070	C9ORF72	203228	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	C9ORF72	203228	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	C9ORF72	203228	HP:0003828	Variable expressivity
OMIM:606070	C9ORF72	203228	HP:0003581	Adult onset
OMIM:606070	PFN1	5216	HP:0002015	Dysphagia
OMIM:606070	PFN1	5216	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	PFN1	5216	HP:0001347	Hyperreflexia
OMIM:606070	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	PFN1	5216	HP:0001609	Hoarse voice
OMIM:606070	PFN1	5216	HP:0001283	Bulbar palsy
OMIM:606070	PFN1	5216	HP:0002460	Distal muscle weakness
OMIM:606070	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:606070	PFN1	5216	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	PFN1	5216	HP:0002936	Distal sensory impairment
OMIM:606070	PFN1	5216	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	PFN1	5216	HP:0002483	Bulbar signs
OMIM:606070	PFN1	5216	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	PFN1	5216	HP:0001260	Dysarthria
OMIM:606070	PFN1	5216	HP:0000726	Dementia
OMIM:606070	PFN1	5216	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	PFN1	5216	HP:0003805	Rimmed vacuoles
OMIM:606070	PFN1	5216	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	PFN1	5216	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	PFN1	5216	HP:0003828	Variable expressivity
OMIM:606070	PFN1	5216	HP:0003581	Adult onset
OMIM:606070	ATXN2	6311	HP:0002015	Dysphagia
OMIM:606070	ATXN2	6311	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	ATXN2	6311	HP:0001347	Hyperreflexia
OMIM:606070	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	ATXN2	6311	HP:0001609	Hoarse voice
OMIM:606070	ATXN2	6311	HP:0001283	Bulbar palsy
OMIM:606070	ATXN2	6311	HP:0002460	Distal muscle weakness
OMIM:606070	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:606070	ATXN2	6311	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	ATXN2	6311	HP:0002936	Distal sensory impairment
OMIM:606070	ATXN2	6311	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	ATXN2	6311	HP:0002483	Bulbar signs
OMIM:606070	ATXN2	6311	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	ATXN2	6311	HP:0001260	Dysarthria
OMIM:606070	ATXN2	6311	HP:0000726	Dementia
OMIM:606070	ATXN2	6311	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	ATXN2	6311	HP:0003805	Rimmed vacuoles
OMIM:606070	ATXN2	6311	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	ATXN2	6311	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	ATXN2	6311	HP:0003828	Variable expressivity
OMIM:606070	ATXN2	6311	HP:0003581	Adult onset
OMIM:606070	DCTN1	1639	HP:0002015	Dysphagia
OMIM:606070	DCTN1	1639	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	DCTN1	1639	HP:0001347	Hyperreflexia
OMIM:606070	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	DCTN1	1639	HP:0001609	Hoarse voice
OMIM:606070	DCTN1	1639	HP:0001283	Bulbar palsy
OMIM:606070	DCTN1	1639	HP:0002460	Distal muscle weakness
OMIM:606070	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:606070	DCTN1	1639	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	DCTN1	1639	HP:0002936	Distal sensory impairment
OMIM:606070	DCTN1	1639	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	DCTN1	1639	HP:0002483	Bulbar signs
OMIM:606070	DCTN1	1639	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	DCTN1	1639	HP:0001260	Dysarthria
OMIM:606070	DCTN1	1639	HP:0000726	Dementia
OMIM:606070	DCTN1	1639	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	DCTN1	1639	HP:0003805	Rimmed vacuoles
OMIM:606070	DCTN1	1639	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	DCTN1	1639	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	DCTN1	1639	HP:0003828	Variable expressivity
OMIM:606070	DCTN1	1639	HP:0003581	Adult onset
OMIM:606070	FIG4	9896	HP:0002015	Dysphagia
OMIM:606070	FIG4	9896	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	FIG4	9896	HP:0001347	Hyperreflexia
OMIM:606070	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	FIG4	9896	HP:0001609	Hoarse voice
OMIM:606070	FIG4	9896	HP:0001283	Bulbar palsy
OMIM:606070	FIG4	9896	HP:0002460	Distal muscle weakness
OMIM:606070	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:606070	FIG4	9896	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	FIG4	9896	HP:0002936	Distal sensory impairment
OMIM:606070	FIG4	9896	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	FIG4	9896	HP:0002483	Bulbar signs
OMIM:606070	FIG4	9896	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	FIG4	9896	HP:0001260	Dysarthria
OMIM:606070	FIG4	9896	HP:0000726	Dementia
OMIM:606070	FIG4	9896	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	FIG4	9896	HP:0003805	Rimmed vacuoles
OMIM:606070	FIG4	9896	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	FIG4	9896	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	FIG4	9896	HP:0003828	Variable expressivity
OMIM:606070	FIG4	9896	HP:0003581	Adult onset
OMIM:606070	HNRNPA1	3178	HP:0002015	Dysphagia
OMIM:606070	HNRNPA1	3178	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	HNRNPA1	3178	HP:0001347	Hyperreflexia
OMIM:606070	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	HNRNPA1	3178	HP:0001609	Hoarse voice
OMIM:606070	HNRNPA1	3178	HP:0001283	Bulbar palsy
OMIM:606070	HNRNPA1	3178	HP:0002460	Distal muscle weakness
OMIM:606070	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:606070	HNRNPA1	3178	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	HNRNPA1	3178	HP:0002936	Distal sensory impairment
OMIM:606070	HNRNPA1	3178	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	HNRNPA1	3178	HP:0002483	Bulbar signs
OMIM:606070	HNRNPA1	3178	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	HNRNPA1	3178	HP:0001260	Dysarthria
OMIM:606070	HNRNPA1	3178	HP:0000726	Dementia
OMIM:606070	HNRNPA1	3178	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	HNRNPA1	3178	HP:0003805	Rimmed vacuoles
OMIM:606070	HNRNPA1	3178	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	HNRNPA1	3178	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	HNRNPA1	3178	HP:0003828	Variable expressivity
OMIM:606070	HNRNPA1	3178	HP:0003581	Adult onset
OMIM:606070	SQSTM1	8878	HP:0002015	Dysphagia
OMIM:606070	SQSTM1	8878	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	SQSTM1	8878	HP:0001347	Hyperreflexia
OMIM:606070	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	SQSTM1	8878	HP:0001609	Hoarse voice
OMIM:606070	SQSTM1	8878	HP:0001283	Bulbar palsy
OMIM:606070	SQSTM1	8878	HP:0002460	Distal muscle weakness
OMIM:606070	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:606070	SQSTM1	8878	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	SQSTM1	8878	HP:0002936	Distal sensory impairment
OMIM:606070	SQSTM1	8878	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	SQSTM1	8878	HP:0002483	Bulbar signs
OMIM:606070	SQSTM1	8878	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:606070	SQSTM1	8878	HP:0000726	Dementia
OMIM:606070	SQSTM1	8878	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	SQSTM1	8878	HP:0003805	Rimmed vacuoles
OMIM:606070	SQSTM1	8878	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	SQSTM1	8878	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	SQSTM1	8878	HP:0003828	Variable expressivity
OMIM:606070	SQSTM1	8878	HP:0003581	Adult onset
OMIM:606070	UNC13A	23025	HP:0002015	Dysphagia
OMIM:606070	UNC13A	23025	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	UNC13A	23025	HP:0001347	Hyperreflexia
OMIM:606070	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	UNC13A	23025	HP:0001609	Hoarse voice
OMIM:606070	UNC13A	23025	HP:0001283	Bulbar palsy
OMIM:606070	UNC13A	23025	HP:0002460	Distal muscle weakness
OMIM:606070	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:606070	UNC13A	23025	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	UNC13A	23025	HP:0002936	Distal sensory impairment
OMIM:606070	UNC13A	23025	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	UNC13A	23025	HP:0002483	Bulbar signs
OMIM:606070	UNC13A	23025	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	UNC13A	23025	HP:0001260	Dysarthria
OMIM:606070	UNC13A	23025	HP:0000726	Dementia
OMIM:606070	UNC13A	23025	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	UNC13A	23025	HP:0003805	Rimmed vacuoles
OMIM:606070	UNC13A	23025	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	UNC13A	23025	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	UNC13A	23025	HP:0003828	Variable expressivity
OMIM:606070	UNC13A	23025	HP:0003581	Adult onset
OMIM:606070	MATR3	9782	HP:0002015	Dysphagia
OMIM:606070	MATR3	9782	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	MATR3	9782	HP:0001347	Hyperreflexia
OMIM:606070	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	MATR3	9782	HP:0001609	Hoarse voice
OMIM:606070	MATR3	9782	HP:0001283	Bulbar palsy
OMIM:606070	MATR3	9782	HP:0002460	Distal muscle weakness
OMIM:606070	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:606070	MATR3	9782	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	MATR3	9782	HP:0002936	Distal sensory impairment
OMIM:606070	MATR3	9782	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	MATR3	9782	HP:0002483	Bulbar signs
OMIM:606070	MATR3	9782	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	MATR3	9782	HP:0001260	Dysarthria
OMIM:606070	MATR3	9782	HP:0000726	Dementia
OMIM:606070	MATR3	9782	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	MATR3	9782	HP:0003805	Rimmed vacuoles
OMIM:606070	MATR3	9782	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	MATR3	9782	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	MATR3	9782	HP:0003828	Variable expressivity
OMIM:606070	MATR3	9782	HP:0003581	Adult onset
OMIM:606070	TBK1	29110	HP:0002015	Dysphagia
OMIM:606070	TBK1	29110	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	TBK1	29110	HP:0001347	Hyperreflexia
OMIM:606070	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	TBK1	29110	HP:0001609	Hoarse voice
OMIM:606070	TBK1	29110	HP:0001283	Bulbar palsy
OMIM:606070	TBK1	29110	HP:0002460	Distal muscle weakness
OMIM:606070	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:606070	TBK1	29110	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	TBK1	29110	HP:0002936	Distal sensory impairment
OMIM:606070	TBK1	29110	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	TBK1	29110	HP:0002483	Bulbar signs
OMIM:606070	TBK1	29110	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	TBK1	29110	HP:0001260	Dysarthria
OMIM:606070	TBK1	29110	HP:0000726	Dementia
OMIM:606070	TBK1	29110	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	TBK1	29110	HP:0003805	Rimmed vacuoles
OMIM:606070	TBK1	29110	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	TBK1	29110	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	TBK1	29110	HP:0003828	Variable expressivity
OMIM:606070	TBK1	29110	HP:0003581	Adult onset
OMIM:606070	SOD1	6647	HP:0002015	Dysphagia
OMIM:606070	SOD1	6647	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	SOD1	6647	HP:0001347	Hyperreflexia
OMIM:606070	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	SOD1	6647	HP:0001609	Hoarse voice
OMIM:606070	SOD1	6647	HP:0001283	Bulbar palsy
OMIM:606070	SOD1	6647	HP:0002460	Distal muscle weakness
OMIM:606070	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:606070	SOD1	6647	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	SOD1	6647	HP:0002936	Distal sensory impairment
OMIM:606070	SOD1	6647	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	SOD1	6647	HP:0002483	Bulbar signs
OMIM:606070	SOD1	6647	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	SOD1	6647	HP:0001260	Dysarthria
OMIM:606070	SOD1	6647	HP:0000726	Dementia
OMIM:606070	SOD1	6647	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	SOD1	6647	HP:0003805	Rimmed vacuoles
OMIM:606070	SOD1	6647	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	SOD1	6647	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	SOD1	6647	HP:0003828	Variable expressivity
OMIM:606070	SOD1	6647	HP:0003581	Adult onset
OMIM:606070	VCP	7415	HP:0002015	Dysphagia
OMIM:606070	VCP	7415	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	VCP	7415	HP:0001347	Hyperreflexia
OMIM:606070	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	VCP	7415	HP:0001609	Hoarse voice
OMIM:606070	VCP	7415	HP:0001283	Bulbar palsy
OMIM:606070	VCP	7415	HP:0002460	Distal muscle weakness
OMIM:606070	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:606070	VCP	7415	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	VCP	7415	HP:0002936	Distal sensory impairment
OMIM:606070	VCP	7415	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	VCP	7415	HP:0002483	Bulbar signs
OMIM:606070	VCP	7415	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	VCP	7415	HP:0001260	Dysarthria
OMIM:606070	VCP	7415	HP:0000726	Dementia
OMIM:606070	VCP	7415	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	VCP	7415	HP:0003805	Rimmed vacuoles
OMIM:606070	VCP	7415	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	VCP	7415	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	VCP	7415	HP:0003828	Variable expressivity
OMIM:606070	VCP	7415	HP:0003581	Adult onset
OMIM:606070	CHMP2B	25978	HP:0002015	Dysphagia
OMIM:606070	CHMP2B	25978	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	CHMP2B	25978	HP:0001347	Hyperreflexia
OMIM:606070	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	CHMP2B	25978	HP:0001609	Hoarse voice
OMIM:606070	CHMP2B	25978	HP:0001283	Bulbar palsy
OMIM:606070	CHMP2B	25978	HP:0002460	Distal muscle weakness
OMIM:606070	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:606070	CHMP2B	25978	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	CHMP2B	25978	HP:0002936	Distal sensory impairment
OMIM:606070	CHMP2B	25978	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	CHMP2B	25978	HP:0002483	Bulbar signs
OMIM:606070	CHMP2B	25978	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	CHMP2B	25978	HP:0001260	Dysarthria
OMIM:606070	CHMP2B	25978	HP:0000726	Dementia
OMIM:606070	CHMP2B	25978	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	CHMP2B	25978	HP:0003805	Rimmed vacuoles
OMIM:606070	CHMP2B	25978	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	CHMP2B	25978	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	CHMP2B	25978	HP:0003828	Variable expressivity
OMIM:606070	CHMP2B	25978	HP:0003581	Adult onset
OMIM:606070	PRPH	5630	HP:0002015	Dysphagia
OMIM:606070	PRPH	5630	HP:0000762	Decreased nerve conduction velocity
OMIM:606070	PRPH	5630	HP:0001347	Hyperreflexia
OMIM:606070	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:606070	PRPH	5630	HP:0001609	Hoarse voice
OMIM:606070	PRPH	5630	HP:0001283	Bulbar palsy
OMIM:606070	PRPH	5630	HP:0002460	Distal muscle weakness
OMIM:606070	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:606070	PRPH	5630	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:606070	PRPH	5630	HP:0002936	Distal sensory impairment
OMIM:606070	PRPH	5630	HP:0001739	Abnormality of the nasopharynx
OMIM:606070	PRPH	5630	HP:0002483	Bulbar signs
OMIM:606070	PRPH	5630	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606070	PRPH	5630	HP:0001260	Dysarthria
OMIM:606070	PRPH	5630	HP:0000726	Dementia
OMIM:606070	PRPH	5630	HP:0003547	Shoulder girdle muscle weakness
OMIM:606070	PRPH	5630	HP:0003805	Rimmed vacuoles
OMIM:606070	PRPH	5630	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606070	PRPH	5630	HP:0002366	Abnormal lower motor neuron morphology
OMIM:606070	PRPH	5630	HP:0003828	Variable expressivity
OMIM:606070	PRPH	5630	HP:0003581	Adult onset
OMIM:153400	FOXC2	2303	HP:0000613	Photophobia
OMIM:153400	FOXC2	2303	HP:0000093	Proteinuria
OMIM:153400	FOXC2	2303	HP:0000509	Conjunctivitis
OMIM:153400	FOXC2	2303	HP:0001643	Patent ductus arteriosus
OMIM:153400	FOXC2	2303	HP:0001324	Muscle weakness
OMIM:153400	FOXC2	2303	HP:0200042	Skin ulcer
OMIM:153400	FOXC2	2303	HP:0000465	Webbed neck
OMIM:153400	FOXC2	2303	HP:0001636	Tetralogy of Fallot
OMIM:153400	FOXC2	2303	HP:0011675	Arrhythmia
OMIM:153400	FOXC2	2303	HP:0000075	Renal duplication
OMIM:153400	FOXC2	2303	HP:0000175	Cleft palate
OMIM:153400	FOXC2	2303	HP:0001004	Lymphedema
OMIM:153400	FOXC2	2303	HP:0000010	Recurrent urinary tract infections
OMIM:153400	FOXC2	2303	HP:0000508	Ptosis
OMIM:153400	FOXC2	2303	HP:0000518	Cataract
OMIM:153400	FOXC2	2303	HP:0000819	Diabetes mellitus
OMIM:153400	FOXC2	2303	HP:0001629	Ventricular septal defect
OMIM:153400	FOXC2	2303	HP:0100835	Benign neoplasm of the central nervous system
OMIM:153400	FOXC2	2303	HP:0003011	Abnormality of the musculature
OMIM:153400	FOXC2	2303	HP:0000204	Cleft upper lip
OMIM:153400	FOXC2	2303	HP:0004930	Abnormality of the pulmonary vasculature
OMIM:153400	FOXC2	2303	HP:0100242	Sarcoma
OMIM:153400	FOXC2	2303	HP:0000006	Autosomal dominant inheritance
OMIM:609307	FGF14	2259	HP:0001761	Pes cavus
OMIM:609307	FGF14	2259	HP:0002066	Gait ataxia
OMIM:609307	FGF14	2259	HP:0001256	Intellectual disability, mild
OMIM:609307	FGF14	2259	HP:0002354	Memory impairment
OMIM:609307	FGF14	2259	HP:0002495	Impaired vibratory sensation
OMIM:609307	FGF14	2259	HP:0007772	Impaired smooth pursuit
OMIM:609307	FGF14	2259	HP:0000486	Strabismus
OMIM:609307	FGF14	2259	HP:0002078	Truncal ataxia
OMIM:609307	FGF14	2259	HP:0002070	Limb ataxia
OMIM:609307	FGF14	2259	HP:0003677	Slow progression
OMIM:609307	FGF14	2259	HP:0001272	Cerebellar atrophy
OMIM:609307	FGF14	2259	HP:0000006	Autosomal dominant inheritance
OMIM:609307	FGF14	2259	HP:0001260	Dysarthria
OMIM:609307	FGF14	2259	HP:0000640	Gaze-evoked nystagmus
OMIM:609307	FGF14	2259	HP:0000716	Depression
OMIM:611489	SERPINA6	866	HP:0000006	Autosomal dominant inheritance
OMIM:611489	SERPINA6	866	HP:0003812	Phenotypic variability
OMIM:611489	SERPINA6	866	HP:0000007	Autosomal recessive inheritance
OMIM:611489	SERPINA6	866	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:611489	SERPINA6	866	HP:0000822	Hypertension
OMIM:121300	CPOX	1371	HP:0002027	Abdominal pain
OMIM:121300	CPOX	1371	HP:0000822	Hypertension
OMIM:121300	CPOX	1371	HP:0002829	Arthralgia
OMIM:121300	CPOX	1371	HP:0000952	Jaundice
OMIM:121300	CPOX	1371	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:121300	CPOX	1371	HP:0000006	Autosomal dominant inheritance
OMIM:121300	CPOX	1371	HP:0003326	Myalgia
OMIM:121300	CPOX	1371	HP:0003829	Incomplete penetrance
OMIM:121300	CPOX	1371	HP:0002014	Diarrhea
OMIM:121300	CPOX	1371	HP:0002017	Nausea and vomiting
OMIM:121300	CPOX	1371	HP:0000992	Cutaneous photosensitivity
OMIM:121300	CPOX	1371	HP:0001649	Tachycardia
OMIM:121300	CPOX	1371	HP:0007440	Generalized hyperpigmentation
OMIM:121300	CPOX	1371	HP:0000739	Anxiety
OMIM:121300	CPOX	1371	HP:0002240	Hepatomegaly
OMIM:121300	CPOX	1371	HP:0000738	Hallucinations
OMIM:121300	CPOX	1371	HP:0004372	Reduced consciousness/confusion
OMIM:121300	CPOX	1371	HP:0009830	Peripheral neuropathy
OMIM:121300	CPOX	1371	HP:0011999	Paranoia
OMIM:121300	CPOX	1371	HP:0001744	Splenomegaly
OMIM:121300	CPOX	1371	HP:0002019	Constipation
OMIM:121300	CPOX	1371	HP:0000716	Depression
OMIM:121300	CPOX	1371	HP:0000963	Thin skin
OMIM:121300	CPOX	1371	HP:0002013	Vomiting
OMIM:121300	CPOX	1371	HP:0100785	Insomnia
OMIM:186550	PITX1	5307	HP:0002997	Abnormality of the ulna
OMIM:186550	PITX1	5307	HP:0001156	Brachydactyly syndrome
OMIM:186550	PITX1	5307	HP:0001231	Abnormality of the fingernails
OMIM:186550	PITX1	5307	HP:0000006	Autosomal dominant inheritance
OMIM:186550	PITX1	5307	HP:0002987	Elbow flexion contracture
OMIM:186550	PITX1	5307	HP:0000256	Macrocephaly
OMIM:186550	PITX1	5307	HP:0003042	Elbow dislocation
OMIM:186550	PITX1	5307	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:186550	PITX1	5307	HP:0005048	Synostosis of carpal bones
OMIM:186550	PITX1	5307	HP:0001376	Limitation of joint mobility
OMIM:186550	PITX1	5307	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:186550	PITX1	5307	HP:0003063	Abnormality of the humerus
OMIM:186550	PITX1	5307	HP:0004209	Clinodactyly of the 5th finger
OMIM:186550	PITX1	5307	HP:0003016	Metaphyseal widening
OMIM:105500	PARK7	11315	HP:0001324	Muscle weakness
OMIM:105500	PARK7	11315	HP:0000726	Dementia
OMIM:105500	PARK7	11315	HP:0003394	Muscle cramps
OMIM:105500	PARK7	11315	HP:0001300	Parkinsonism
OMIM:105500	PARK7	11315	HP:0002366	Abnormal lower motor neuron morphology
OMIM:105500	PARK7	11315	HP:0001283	Bulbar palsy
OMIM:105500	PARK7	11315	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105500	TRPM7	54822	HP:0001324	Muscle weakness
OMIM:105500	TRPM7	54822	HP:0000726	Dementia
OMIM:105500	TRPM7	54822	HP:0003394	Muscle cramps
OMIM:105500	TRPM7	54822	HP:0001300	Parkinsonism
OMIM:105500	TRPM7	54822	HP:0002366	Abnormal lower motor neuron morphology
OMIM:105500	TRPM7	54822	HP:0001283	Bulbar palsy
OMIM:105500	TRPM7	54822	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614186	AIPL1	23746	HP:0000486	Strabismus
OMIM:614186	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:614186	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:614186	AIPL1	23746	HP:0000505	Visual impairment
OMIM:614186	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:614186	AIPL1	23746	HP:0000639	Nystagmus
OMIM:614186	AIPL1	23746	HP:0000518	Cataract
OMIM:614186	NMNAT1	64802	HP:0000486	Strabismus
OMIM:614186	NMNAT1	64802	HP:0007663	Reduced visual acuity
OMIM:614186	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:614186	NMNAT1	64802	HP:0000505	Visual impairment
OMIM:614186	NMNAT1	64802	HP:0000662	Nyctalopia
OMIM:614186	NMNAT1	64802	HP:0000639	Nystagmus
OMIM:614186	NMNAT1	64802	HP:0000518	Cataract
OMIM:614186	SPATA7	55812	HP:0000486	Strabismus
OMIM:614186	SPATA7	55812	HP:0007663	Reduced visual acuity
OMIM:614186	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:614186	SPATA7	55812	HP:0000505	Visual impairment
OMIM:614186	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:614186	SPATA7	55812	HP:0000639	Nystagmus
OMIM:614186	SPATA7	55812	HP:0000518	Cataract
OMIM:614186	RDH12	145226	HP:0000486	Strabismus
OMIM:614186	RDH12	145226	HP:0007663	Reduced visual acuity
OMIM:614186	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:614186	RDH12	145226	HP:0000505	Visual impairment
OMIM:614186	RDH12	145226	HP:0000662	Nyctalopia
OMIM:614186	RDH12	145226	HP:0000639	Nystagmus
OMIM:614186	RDH12	145226	HP:0000518	Cataract
OMIM:614186	RPGRIP1	57096	HP:0000486	Strabismus
OMIM:614186	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:614186	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:614186	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:614186	RPGRIP1	57096	HP:0000662	Nyctalopia
OMIM:614186	RPGRIP1	57096	HP:0000639	Nystagmus
OMIM:614186	RPGRIP1	57096	HP:0000518	Cataract
OMIM:614186	RPE65	6121	HP:0000486	Strabismus
OMIM:614186	RPE65	6121	HP:0007663	Reduced visual acuity
OMIM:614186	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:614186	RPE65	6121	HP:0000505	Visual impairment
OMIM:614186	RPE65	6121	HP:0000662	Nyctalopia
OMIM:614186	RPE65	6121	HP:0000639	Nystagmus
OMIM:614186	RPE65	6121	HP:0000518	Cataract
OMIM:614186	LCA5	167691	HP:0000486	Strabismus
OMIM:614186	LCA5	167691	HP:0007663	Reduced visual acuity
OMIM:614186	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:614186	LCA5	167691	HP:0000505	Visual impairment
OMIM:614186	LCA5	167691	HP:0000662	Nyctalopia
OMIM:614186	LCA5	167691	HP:0000639	Nystagmus
OMIM:614186	LCA5	167691	HP:0000518	Cataract
OMIM:614186	LRAT	9227	HP:0000486	Strabismus
OMIM:614186	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:614186	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:614186	LRAT	9227	HP:0000505	Visual impairment
OMIM:614186	LRAT	9227	HP:0000662	Nyctalopia
OMIM:614186	LRAT	9227	HP:0000639	Nystagmus
OMIM:614186	LRAT	9227	HP:0000518	Cataract
OMIM:614186	IFT140	9742	HP:0000486	Strabismus
OMIM:614186	IFT140	9742	HP:0007663	Reduced visual acuity
OMIM:614186	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:614186	IFT140	9742	HP:0000505	Visual impairment
OMIM:614186	IFT140	9742	HP:0000662	Nyctalopia
OMIM:614186	IFT140	9742	HP:0000639	Nystagmus
OMIM:614186	IFT140	9742	HP:0000518	Cataract
OMIM:614186	TULP1	7287	HP:0000486	Strabismus
OMIM:614186	TULP1	7287	HP:0007663	Reduced visual acuity
OMIM:614186	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:614186	TULP1	7287	HP:0000505	Visual impairment
OMIM:614186	TULP1	7287	HP:0000662	Nyctalopia
OMIM:614186	TULP1	7287	HP:0000639	Nystagmus
OMIM:614186	TULP1	7287	HP:0000518	Cataract
OMIM:614186	GUCY2D	3000	HP:0000486	Strabismus
OMIM:614186	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:614186	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:614186	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:614186	GUCY2D	3000	HP:0000662	Nyctalopia
OMIM:614186	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:614186	GUCY2D	3000	HP:0000518	Cataract
OMIM:614186	KCNJ13	3769	HP:0000486	Strabismus
OMIM:614186	KCNJ13	3769	HP:0007663	Reduced visual acuity
OMIM:614186	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:614186	KCNJ13	3769	HP:0000505	Visual impairment
OMIM:614186	KCNJ13	3769	HP:0000662	Nyctalopia
OMIM:614186	KCNJ13	3769	HP:0000639	Nystagmus
OMIM:614186	KCNJ13	3769	HP:0000518	Cataract
OMIM:614186	CEP290	80184	HP:0000486	Strabismus
OMIM:614186	CEP290	80184	HP:0007663	Reduced visual acuity
OMIM:614186	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:614186	CEP290	80184	HP:0000505	Visual impairment
OMIM:614186	CEP290	80184	HP:0000662	Nyctalopia
OMIM:614186	CEP290	80184	HP:0000639	Nystagmus
OMIM:614186	CEP290	80184	HP:0000518	Cataract
OMIM:614186	IQCB1	9657	HP:0000486	Strabismus
OMIM:614186	IQCB1	9657	HP:0007663	Reduced visual acuity
OMIM:614186	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:614186	IQCB1	9657	HP:0000505	Visual impairment
OMIM:614186	IQCB1	9657	HP:0000662	Nyctalopia
OMIM:614186	IQCB1	9657	HP:0000639	Nystagmus
OMIM:614186	IQCB1	9657	HP:0000518	Cataract
OMIM:614186	CRB1	23418	HP:0000486	Strabismus
OMIM:614186	CRB1	23418	HP:0007663	Reduced visual acuity
OMIM:614186	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:614186	CRB1	23418	HP:0000505	Visual impairment
OMIM:614186	CRB1	23418	HP:0000662	Nyctalopia
OMIM:614186	CRB1	23418	HP:0000639	Nystagmus
OMIM:614186	CRB1	23418	HP:0000518	Cataract
OMIM:614186	GDF6	392255	HP:0000486	Strabismus
OMIM:614186	GDF6	392255	HP:0007663	Reduced visual acuity
OMIM:614186	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:614186	GDF6	392255	HP:0000505	Visual impairment
OMIM:614186	GDF6	392255	HP:0000662	Nyctalopia
OMIM:614186	GDF6	392255	HP:0000639	Nystagmus
OMIM:614186	GDF6	392255	HP:0000518	Cataract
OMIM:614186	RD3	343035	HP:0000486	Strabismus
OMIM:614186	RD3	343035	HP:0007663	Reduced visual acuity
OMIM:614186	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:614186	RD3	343035	HP:0000505	Visual impairment
OMIM:614186	RD3	343035	HP:0000662	Nyctalopia
OMIM:614186	RD3	343035	HP:0000639	Nystagmus
OMIM:614186	RD3	343035	HP:0000518	Cataract
OMIM:614186	CRX	1406	HP:0000486	Strabismus
OMIM:614186	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:614186	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:614186	CRX	1406	HP:0000505	Visual impairment
OMIM:614186	CRX	1406	HP:0000662	Nyctalopia
OMIM:614186	CRX	1406	HP:0000639	Nystagmus
OMIM:614186	CRX	1406	HP:0000518	Cataract
OMIM:614186	IMPDH1	3614	HP:0000486	Strabismus
OMIM:614186	IMPDH1	3614	HP:0007663	Reduced visual acuity
OMIM:614186	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:614186	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:614186	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:614186	IMPDH1	3614	HP:0000639	Nystagmus
OMIM:614186	IMPDH1	3614	HP:0000518	Cataract
OMIM:117210	BEAN1	146227	HP:0003584	Late onset
OMIM:117210	BEAN1	146227	HP:0002066	Gait ataxia
OMIM:117210	BEAN1	146227	HP:0001272	Cerebellar atrophy
OMIM:117210	BEAN1	146227	HP:0000006	Autosomal dominant inheritance
OMIM:117210	BEAN1	146227	HP:0001251	Ataxia
OMIM:117210	BEAN1	146227	HP:0002070	Limb ataxia
OMIM:117210	BEAN1	146227	HP:0000407	Sensorineural hearing impairment
OMIM:117210	BEAN1	146227	HP:0001260	Dysarthria
OMIM:602471	GSC	145258	HP:0003577	Congenital onset
OMIM:602471	GSC	145258	HP:0011968	Feeding difficulties
OMIM:602471	GSC	145258	HP:0000007	Autosomal recessive inheritance
OMIM:602471	GSC	145258	HP:0000272	Malar flattening
OMIM:602471	GSC	145258	HP:0000218	High palate
OMIM:602471	GSC	145258	HP:0000882	Hypoplastic scapulae
OMIM:602471	GSC	145258	HP:0001371	Flexion contracture
OMIM:602471	GSC	145258	HP:0000413	Atresia of the external auditory canal
OMIM:602471	GSC	145258	HP:0002827	Hip dislocation
OMIM:602471	GSC	145258	HP:0000028	Cryptorchidism
OMIM:602471	GSC	145258	HP:0001762	Talipes equinovarus
OMIM:602471	GSC	145258	HP:0000601	Hypotelorism
OMIM:602471	GSC	145258	HP:0008905	Rhizomelia
OMIM:602471	GSC	145258	HP:0000347	Micrognathia
OMIM:602471	GSC	145258	HP:0005792	Short humerus
OMIM:602471	GSC	145258	HP:0000494	Downslanted palpebral fissures
OMIM:602471	GSC	145258	HP:0003083	Dislocated radial head
OMIM:602471	GSC	145258	HP:0000490	Deeply set eye
OMIM:602471	GSC	145258	HP:0000160	Narrow mouth
OMIM:602471	GSC	145258	HP:0000405	Conductive hearing impairment
OMIM:602471	GSC	145258	HP:0004467	Preauricular pit
OMIM:600224	SPTBN2	6712	HP:0001347	Hyperreflexia
OMIM:600224	SPTBN2	6712	HP:0007772	Impaired smooth pursuit
OMIM:600224	SPTBN2	6712	HP:0003593	Infantile onset
OMIM:600224	SPTBN2	6712	HP:0001263	Global developmental delay
OMIM:600224	SPTBN2	6712	HP:0002066	Gait ataxia
OMIM:600224	SPTBN2	6712	HP:0001252	Muscular hypotonia
OMIM:600224	SPTBN2	6712	HP:0001310	Dysmetria
OMIM:600224	SPTBN2	6712	HP:0002075	Dysdiadochokinesis
OMIM:600224	SPTBN2	6712	HP:0002070	Limb ataxia
OMIM:600224	SPTBN2	6712	HP:0002495	Impaired vibratory sensation
OMIM:600224	SPTBN2	6712	HP:0000640	Gaze-evoked nystagmus
OMIM:600224	SPTBN2	6712	HP:0000006	Autosomal dominant inheritance
OMIM:600224	SPTBN2	6712	HP:0001260	Dysarthria
OMIM:600224	SPTBN2	6712	HP:0002311	Incoordination
OMIM:600224	SPTBN2	6712	HP:0001272	Cerebellar atrophy
OMIM:600224	SPTBN2	6712	HP:0003677	Slow progression
OMIM:601954	TCAP	8557	HP:0003236	Elevated serum creatine phosphokinase
OMIM:601954	TCAP	8557	HP:0008944	Distal lower limb amyotrophy
OMIM:601954	TCAP	8557	HP:0003560	Muscular dystrophy
OMIM:601954	TCAP	8557	HP:0009053	Distal lower limb muscle weakness
OMIM:601954	TCAP	8557	HP:0002355	Difficulty walking
OMIM:601954	TCAP	8557	HP:0009027	Foot dorsiflexor weakness
OMIM:601954	TCAP	8557	HP:0009025	Increased connective tissue
OMIM:601954	TCAP	8557	HP:0008981	Calf muscle hypertrophy
OMIM:601954	TCAP	8557	HP:0000007	Autosomal recessive inheritance
OMIM:601954	TCAP	8557	HP:0003805	Rimmed vacuoles
OMIM:300062	ZNF711	7552	HP:0002342	Intellectual disability, moderate
OMIM:300062	ZNF711	7552	HP:0002465	Poor speech
OMIM:300062	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300062	ZNF711	7552	HP:0000053	Macroorchidism
OMIM:300062	ZNF711	7552	HP:0001250	Seizures
OMIM:300062	ZNF711	7552	HP:0001999	Abnormal facial shape
OMIM:300062	IL1RAPL1	11141	HP:0002342	Intellectual disability, moderate
OMIM:300062	IL1RAPL1	11141	HP:0002465	Poor speech
OMIM:300062	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300062	IL1RAPL1	11141	HP:0000053	Macroorchidism
OMIM:300062	IL1RAPL1	11141	HP:0001250	Seizures
OMIM:300062	IL1RAPL1	11141	HP:0001999	Abnormal facial shape
OMIM:300062	ACSL4	2182	HP:0002342	Intellectual disability, moderate
OMIM:300062	ACSL4	2182	HP:0002465	Poor speech
OMIM:300062	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300062	ACSL4	2182	HP:0000053	Macroorchidism
OMIM:300062	ACSL4	2182	HP:0001250	Seizures
OMIM:300062	ACSL4	2182	HP:0001999	Abnormal facial shape
OMIM:300062	PAK3	5063	HP:0002342	Intellectual disability, moderate
OMIM:300062	PAK3	5063	HP:0002465	Poor speech
OMIM:300062	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300062	PAK3	5063	HP:0000053	Macroorchidism
OMIM:300062	PAK3	5063	HP:0001250	Seizures
OMIM:300062	PAK3	5063	HP:0001999	Abnormal facial shape
OMIM:300062	SYP	6855	HP:0002342	Intellectual disability, moderate
OMIM:300062	SYP	6855	HP:0002465	Poor speech
OMIM:300062	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300062	SYP	6855	HP:0000053	Macroorchidism
OMIM:300062	SYP	6855	HP:0001250	Seizures
OMIM:300062	SYP	6855	HP:0001999	Abnormal facial shape
OMIM:300062	FTSJ1	24140	HP:0002342	Intellectual disability, moderate
OMIM:300062	FTSJ1	24140	HP:0002465	Poor speech
OMIM:300062	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300062	FTSJ1	24140	HP:0000053	Macroorchidism
OMIM:300062	FTSJ1	24140	HP:0001250	Seizures
OMIM:300062	FTSJ1	24140	HP:0001999	Abnormal facial shape
OMIM:300062	DLG3	1741	HP:0002342	Intellectual disability, moderate
OMIM:300062	DLG3	1741	HP:0002465	Poor speech
OMIM:300062	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300062	DLG3	1741	HP:0000053	Macroorchidism
OMIM:300062	DLG3	1741	HP:0001250	Seizures
OMIM:300062	DLG3	1741	HP:0001999	Abnormal facial shape
OMIM:300062	PTCHD1	139411	HP:0002342	Intellectual disability, moderate
OMIM:300062	PTCHD1	139411	HP:0002465	Poor speech
OMIM:300062	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300062	PTCHD1	139411	HP:0000053	Macroorchidism
OMIM:300062	PTCHD1	139411	HP:0001250	Seizures
OMIM:300062	PTCHD1	139411	HP:0001999	Abnormal facial shape
OMIM:300062	UPF3B	65109	HP:0002342	Intellectual disability, moderate
OMIM:300062	UPF3B	65109	HP:0002465	Poor speech
OMIM:300062	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300062	UPF3B	65109	HP:0000053	Macroorchidism
OMIM:300062	UPF3B	65109	HP:0001250	Seizures
OMIM:300062	UPF3B	65109	HP:0001999	Abnormal facial shape
OMIM:300062	ZNF81	347344	HP:0002342	Intellectual disability, moderate
OMIM:300062	ZNF81	347344	HP:0002465	Poor speech
OMIM:300062	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300062	ZNF81	347344	HP:0000053	Macroorchidism
OMIM:300062	ZNF81	347344	HP:0001250	Seizures
OMIM:300062	ZNF81	347344	HP:0001999	Abnormal facial shape
OMIM:300062	RAB39B	116442	HP:0002342	Intellectual disability, moderate
OMIM:300062	RAB39B	116442	HP:0002465	Poor speech
OMIM:300062	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300062	RAB39B	116442	HP:0000053	Macroorchidism
OMIM:300062	RAB39B	116442	HP:0001250	Seizures
OMIM:300062	RAB39B	116442	HP:0001999	Abnormal facial shape
OMIM:300062	DMD	1756	HP:0002342	Intellectual disability, moderate
OMIM:300062	DMD	1756	HP:0002465	Poor speech
OMIM:300062	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300062	DMD	1756	HP:0000053	Macroorchidism
OMIM:300062	DMD	1756	HP:0001250	Seizures
OMIM:300062	DMD	1756	HP:0001999	Abnormal facial shape
OMIM:300062	MAGT1	84061	HP:0002342	Intellectual disability, moderate
OMIM:300062	MAGT1	84061	HP:0002465	Poor speech
OMIM:300062	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300062	MAGT1	84061	HP:0000053	Macroorchidism
OMIM:300062	MAGT1	84061	HP:0001250	Seizures
OMIM:300062	MAGT1	84061	HP:0001999	Abnormal facial shape
OMIM:300062	MID2	11043	HP:0002342	Intellectual disability, moderate
OMIM:300062	MID2	11043	HP:0002465	Poor speech
OMIM:300062	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300062	MID2	11043	HP:0000053	Macroorchidism
OMIM:300062	MID2	11043	HP:0001250	Seizures
OMIM:300062	MID2	11043	HP:0001999	Abnormal facial shape
OMIM:300062	GDI1	2664	HP:0002342	Intellectual disability, moderate
OMIM:300062	GDI1	2664	HP:0002465	Poor speech
OMIM:300062	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300062	GDI1	2664	HP:0000053	Macroorchidism
OMIM:300062	GDI1	2664	HP:0001250	Seizures
OMIM:300062	GDI1	2664	HP:0001999	Abnormal facial shape
OMIM:300062	ZNF41	7592	HP:0002342	Intellectual disability, moderate
OMIM:300062	ZNF41	7592	HP:0002465	Poor speech
OMIM:300062	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300062	ZNF41	7592	HP:0000053	Macroorchidism
OMIM:300062	ZNF41	7592	HP:0001250	Seizures
OMIM:300062	ZNF41	7592	HP:0001999	Abnormal facial shape
OMIM:300062	MECP2	4204	HP:0002342	Intellectual disability, moderate
OMIM:300062	MECP2	4204	HP:0002465	Poor speech
OMIM:300062	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300062	MECP2	4204	HP:0000053	Macroorchidism
OMIM:300062	MECP2	4204	HP:0001250	Seizures
OMIM:300062	MECP2	4204	HP:0001999	Abnormal facial shape
OMIM:300062	HCFC1	3054	HP:0002342	Intellectual disability, moderate
OMIM:300062	HCFC1	3054	HP:0002465	Poor speech
OMIM:300062	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300062	HCFC1	3054	HP:0000053	Macroorchidism
OMIM:300062	HCFC1	3054	HP:0001250	Seizures
OMIM:300062	HCFC1	3054	HP:0001999	Abnormal facial shape
OMIM:300062	USP9X	8239	HP:0002342	Intellectual disability, moderate
OMIM:300062	USP9X	8239	HP:0002465	Poor speech
OMIM:300062	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300062	USP9X	8239	HP:0000053	Macroorchidism
OMIM:300062	USP9X	8239	HP:0001250	Seizures
OMIM:300062	USP9X	8239	HP:0001999	Abnormal facial shape
OMIM:300062	MED12	9968	HP:0002342	Intellectual disability, moderate
OMIM:300062	MED12	9968	HP:0002465	Poor speech
OMIM:300062	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300062	MED12	9968	HP:0000053	Macroorchidism
OMIM:300062	MED12	9968	HP:0001250	Seizures
OMIM:300062	MED12	9968	HP:0001999	Abnormal facial shape
OMIM:300062	ZNF674	641339	HP:0002342	Intellectual disability, moderate
OMIM:300062	ZNF674	641339	HP:0002465	Poor speech
OMIM:300062	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300062	ZNF674	641339	HP:0000053	Macroorchidism
OMIM:300062	ZNF674	641339	HP:0001250	Seizures
OMIM:300062	ZNF674	641339	HP:0001999	Abnormal facial shape
OMIM:300062	ARHGEF6	9459	HP:0002342	Intellectual disability, moderate
OMIM:300062	ARHGEF6	9459	HP:0002465	Poor speech
OMIM:300062	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300062	ARHGEF6	9459	HP:0000053	Macroorchidism
OMIM:300062	ARHGEF6	9459	HP:0001250	Seizures
OMIM:300062	ARHGEF6	9459	HP:0001999	Abnormal facial shape
OMIM:300062	RPS6KA3	6197	HP:0002342	Intellectual disability, moderate
OMIM:300062	RPS6KA3	6197	HP:0002465	Poor speech
OMIM:300062	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300062	RPS6KA3	6197	HP:0000053	Macroorchidism
OMIM:300062	RPS6KA3	6197	HP:0001250	Seizures
OMIM:300062	RPS6KA3	6197	HP:0001999	Abnormal facial shape
OMIM:300062	IQSEC2	23096	HP:0002342	Intellectual disability, moderate
OMIM:300062	IQSEC2	23096	HP:0002465	Poor speech
OMIM:300062	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300062	IQSEC2	23096	HP:0000053	Macroorchidism
OMIM:300062	IQSEC2	23096	HP:0001250	Seizures
OMIM:300062	IQSEC2	23096	HP:0001999	Abnormal facial shape
OMIM:300062	AGTR2	186	HP:0002342	Intellectual disability, moderate
OMIM:300062	AGTR2	186	HP:0002465	Poor speech
OMIM:300062	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300062	AGTR2	186	HP:0000053	Macroorchidism
OMIM:300062	AGTR2	186	HP:0001250	Seizures
OMIM:300062	AGTR2	186	HP:0001999	Abnormal facial shape
OMIM:300062	ARX	170302	HP:0002342	Intellectual disability, moderate
OMIM:300062	ARX	170302	HP:0002465	Poor speech
OMIM:300062	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300062	ARX	170302	HP:0000053	Macroorchidism
OMIM:300062	ARX	170302	HP:0001250	Seizures
OMIM:300062	ARX	170302	HP:0001999	Abnormal facial shape
OMIM:300062	ALG13	79868	HP:0002342	Intellectual disability, moderate
OMIM:300062	ALG13	79868	HP:0002465	Poor speech
OMIM:300062	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300062	ALG13	79868	HP:0000053	Macroorchidism
OMIM:300062	ALG13	79868	HP:0001250	Seizures
OMIM:300062	ALG13	79868	HP:0001999	Abnormal facial shape
OMIM:300062	TSPAN7	7102	HP:0002342	Intellectual disability, moderate
OMIM:300062	TSPAN7	7102	HP:0002465	Poor speech
OMIM:300062	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:300062	TSPAN7	7102	HP:0000053	Macroorchidism
OMIM:300062	TSPAN7	7102	HP:0001250	Seizures
OMIM:300062	TSPAN7	7102	HP:0001999	Abnormal facial shape
OMIM:202200	STAR	6770	HP:0003154	Increased circulating ACTH level
OMIM:202200	STAR	6770	HP:0000098	Tall stature
OMIM:202200	STAR	6770	HP:0008163	Decreased circulating cortisol level
OMIM:202200	STAR	6770	HP:0001508	Failure to thrive
OMIM:202200	STAR	6770	HP:0000953	Hyperpigmentation of the skin
OMIM:202200	STAR	6770	HP:0001250	Seizures
OMIM:202200	STAR	6770	HP:0005616	Accelerated skeletal maturation
OMIM:202200	STAR	6770	HP:0001259	Coma
OMIM:202200	STAR	6770	HP:0001988	Recurrent hypoglycemia
OMIM:202200	STAR	6770	HP:0002719	Recurrent infections
OMIM:202200	STAR	6770	HP:0000007	Autosomal recessive inheritance
OMIM:202200	MRAP	56246	HP:0003154	Increased circulating ACTH level
OMIM:202200	MRAP	56246	HP:0000098	Tall stature
OMIM:202200	MRAP	56246	HP:0008163	Decreased circulating cortisol level
OMIM:202200	MRAP	56246	HP:0001508	Failure to thrive
OMIM:202200	MRAP	56246	HP:0000953	Hyperpigmentation of the skin
OMIM:202200	MRAP	56246	HP:0001250	Seizures
OMIM:202200	MRAP	56246	HP:0005616	Accelerated skeletal maturation
OMIM:202200	MRAP	56246	HP:0001259	Coma
OMIM:202200	MRAP	56246	HP:0001988	Recurrent hypoglycemia
OMIM:202200	MRAP	56246	HP:0002719	Recurrent infections
OMIM:202200	MRAP	56246	HP:0000007	Autosomal recessive inheritance
OMIM:202200	NNT	23530	HP:0003154	Increased circulating ACTH level
OMIM:202200	NNT	23530	HP:0000098	Tall stature
OMIM:202200	NNT	23530	HP:0008163	Decreased circulating cortisol level
OMIM:202200	NNT	23530	HP:0001508	Failure to thrive
OMIM:202200	NNT	23530	HP:0000953	Hyperpigmentation of the skin
OMIM:202200	NNT	23530	HP:0001250	Seizures
OMIM:202200	NNT	23530	HP:0005616	Accelerated skeletal maturation
OMIM:202200	NNT	23530	HP:0001259	Coma
OMIM:202200	NNT	23530	HP:0001988	Recurrent hypoglycemia
OMIM:202200	NNT	23530	HP:0002719	Recurrent infections
OMIM:202200	NNT	23530	HP:0000007	Autosomal recessive inheritance
OMIM:202200	TXNRD2	10587	HP:0003154	Increased circulating ACTH level
OMIM:202200	TXNRD2	10587	HP:0000098	Tall stature
OMIM:202200	TXNRD2	10587	HP:0008163	Decreased circulating cortisol level
OMIM:202200	TXNRD2	10587	HP:0001508	Failure to thrive
OMIM:202200	TXNRD2	10587	HP:0000953	Hyperpigmentation of the skin
OMIM:202200	TXNRD2	10587	HP:0001250	Seizures
OMIM:202200	TXNRD2	10587	HP:0005616	Accelerated skeletal maturation
OMIM:202200	TXNRD2	10587	HP:0001259	Coma
OMIM:202200	TXNRD2	10587	HP:0001988	Recurrent hypoglycemia
OMIM:202200	TXNRD2	10587	HP:0002719	Recurrent infections
OMIM:202200	TXNRD2	10587	HP:0000007	Autosomal recessive inheritance
OMIM:202200	MC2R	4158	HP:0003154	Increased circulating ACTH level
OMIM:202200	MC2R	4158	HP:0000098	Tall stature
OMIM:202200	MC2R	4158	HP:0008163	Decreased circulating cortisol level
OMIM:202200	MC2R	4158	HP:0001508	Failure to thrive
OMIM:202200	MC2R	4158	HP:0000953	Hyperpigmentation of the skin
OMIM:202200	MC2R	4158	HP:0001250	Seizures
OMIM:202200	MC2R	4158	HP:0005616	Accelerated skeletal maturation
OMIM:202200	MC2R	4158	HP:0001259	Coma
OMIM:202200	MC2R	4158	HP:0001988	Recurrent hypoglycemia
OMIM:202200	MC2R	4158	HP:0002719	Recurrent infections
OMIM:202200	MC2R	4158	HP:0000007	Autosomal recessive inheritance
OMIM:300635	SH2D1A	4068	HP:0001945	Fever
OMIM:300635	SH2D1A	4068	HP:0001744	Splenomegaly
OMIM:300635	SH2D1A	4068	HP:0001417	X-linked inheritance
OMIM:300635	SH2D1A	4068	HP:0004313	Decreased antibody level in blood
OMIM:300635	SH2D1A	4068	HP:0012115	Hepatitis
OMIM:300635	SH2D1A	4068	HP:0002155	Hypertriglyceridemia
OMIM:300635	XIAP	331	HP:0001945	Fever
OMIM:300635	XIAP	331	HP:0001744	Splenomegaly
OMIM:300635	XIAP	331	HP:0001417	X-linked inheritance
OMIM:300635	XIAP	331	HP:0004313	Decreased antibody level in blood
OMIM:300635	XIAP	331	HP:0012115	Hepatitis
OMIM:300635	XIAP	331	HP:0002155	Hypertriglyceridemia
OMIM:266100	ALDH7A1	501	HP:0100543	Cognitive impairment
OMIM:266100	ALDH7A1	501	HP:0002120	Cerebral cortical atrophy
OMIM:266100	ALDH7A1	501	HP:0002123	Generalized myoclonic seizures
OMIM:266100	ALDH7A1	501	HP:0002119	Ventriculomegaly
OMIM:266100	ALDH7A1	501	HP:0002240	Hepatomegaly
OMIM:266100	ALDH7A1	501	HP:0002069	Generalized tonic-clonic seizures
OMIM:266100	ALDH7A1	501	HP:0000486	Strabismus
OMIM:266100	ALDH7A1	501	HP:0000750	Delayed speech and language development
OMIM:266100	ALDH7A1	501	HP:0001250	Seizures
OMIM:266100	ALDH7A1	501	HP:0100022	Abnormality of movement
OMIM:266100	ALDH7A1	501	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:266100	ALDH7A1	501	HP:0000007	Autosomal recessive inheritance
OMIM:266100	ALDH7A1	501	HP:0002098	Respiratory distress
OMIM:266100	ALDH7A1	501	HP:0001252	Muscular hypotonia
OMIM:266100	ALDH7A1	501	HP:0002167	Neurological speech impairment
OMIM:266100	ALDH7A1	501	HP:0001249	Intellectual disability
OMIM:266100	ALDH7A1	501	HP:0001557	Prenatal movement abnormality
OMIM:266100	ALDH7A1	501	HP:0002133	Status epilepticus
OMIM:266100	ALDH7A1	501	HP:0002353	EEG abnormality
OMIM:300491	SYN1	6853	HP:0000718	Aggressive behavior
OMIM:300491	SYN1	6853	HP:0001423	X-linked dominant inheritance
OMIM:300491	SYN1	6853	HP:0007359	Focal seizures
OMIM:300491	SYN1	6853	HP:0000729	Autistic behavior
OMIM:300491	SYN1	6853	HP:0001328	Specific learning disability
OMIM:300491	SYN1	6853	HP:0001419	X-linked recessive inheritance
OMIM:300491	SYN1	6853	HP:0000256	Macrocephaly
OMIM:300491	SYN1	6853	HP:0100543	Cognitive impairment
OMIM:601678	SLC12A1	6557	HP:0003324	Generalized muscle weakness
OMIM:601678	SLC12A1	6557	HP:0002013	Vomiting
OMIM:601678	SLC12A1	6557	HP:0000934	Chondrocalcinosis
OMIM:601678	SLC12A1	6557	HP:0001249	Intellectual disability
OMIM:601678	SLC12A1	6557	HP:0001250	Seizures
OMIM:601678	SLC12A1	6557	HP:0002150	Hypercalciuria
OMIM:601678	SLC12A1	6557	HP:0001508	Failure to thrive
OMIM:601678	SLC12A1	6557	HP:0003394	Muscle cramps
OMIM:601678	SLC12A1	6557	HP:0001622	Premature birth
OMIM:601678	SLC12A1	6557	HP:0003401	Paresthesia
OMIM:601678	SLC12A1	6557	HP:0001945	Fever
OMIM:601678	SLC12A1	6557	HP:0001281	Tetany
OMIM:601678	SLC12A1	6557	HP:0001944	Dehydration
OMIM:601678	SLC12A1	6557	HP:0001518	Small for gestational age
OMIM:601678	SLC12A1	6557	HP:0002019	Constipation
OMIM:601678	SLC12A1	6557	HP:0001263	Global developmental delay
OMIM:601678	SLC12A1	6557	HP:0001561	Polyhydramnios
OMIM:601678	SLC12A1	6557	HP:0000121	Nephrocalcinosis
OMIM:601678	SLC12A1	6557	HP:0000938	Osteopenia
OMIM:601678	SLC12A1	6557	HP:0000007	Autosomal recessive inheritance
OMIM:601678	SLC12A1	6557	HP:0002014	Diarrhea
OMIM:601678	SLC12A1	6557	HP:0004322	Short stature
OMIM:601678	KCNJ1	3758	HP:0003324	Generalized muscle weakness
OMIM:601678	KCNJ1	3758	HP:0002013	Vomiting
OMIM:601678	KCNJ1	3758	HP:0000934	Chondrocalcinosis
OMIM:601678	KCNJ1	3758	HP:0001249	Intellectual disability
OMIM:601678	KCNJ1	3758	HP:0001250	Seizures
OMIM:601678	KCNJ1	3758	HP:0002150	Hypercalciuria
OMIM:601678	KCNJ1	3758	HP:0001508	Failure to thrive
OMIM:601678	KCNJ1	3758	HP:0003394	Muscle cramps
OMIM:601678	KCNJ1	3758	HP:0001622	Premature birth
OMIM:601678	KCNJ1	3758	HP:0003401	Paresthesia
OMIM:601678	KCNJ1	3758	HP:0001945	Fever
OMIM:601678	KCNJ1	3758	HP:0001281	Tetany
OMIM:601678	KCNJ1	3758	HP:0001944	Dehydration
OMIM:601678	KCNJ1	3758	HP:0001518	Small for gestational age
OMIM:601678	KCNJ1	3758	HP:0002019	Constipation
OMIM:601678	KCNJ1	3758	HP:0001263	Global developmental delay
OMIM:601678	KCNJ1	3758	HP:0001561	Polyhydramnios
OMIM:601678	KCNJ1	3758	HP:0000121	Nephrocalcinosis
OMIM:601678	KCNJ1	3758	HP:0000938	Osteopenia
OMIM:601678	KCNJ1	3758	HP:0000007	Autosomal recessive inheritance
OMIM:601678	KCNJ1	3758	HP:0002014	Diarrhea
OMIM:601678	KCNJ1	3758	HP:0004322	Short stature
OMIM:613808	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:613808	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:613808	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:613808	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:613808	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
OMIM:613808	DNAAF2	55172	HP:0000789	Infertility
OMIM:613808	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:613808	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:613808	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:613808	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:613808	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:613808	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:613808	CCNO	10309	HP:0000789	Infertility
OMIM:613808	CCNO	10309	HP:0000246	Sinusitis
OMIM:613808	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:613808	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:613808	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:613808	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:613808	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
OMIM:613808	DNAAF5	54919	HP:0000789	Infertility
OMIM:613808	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:613808	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:613808	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:613808	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:613808	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:613808	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:613808	DNAAF3	352909	HP:0000789	Infertility
OMIM:613808	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:613808	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:613808	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:613808	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:613808	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:613808	DNAI1	27019	HP:0002205	Recurrent respiratory infections
OMIM:613808	DNAI1	27019	HP:0000789	Infertility
OMIM:613808	DNAI1	27019	HP:0000246	Sinusitis
OMIM:613808	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:613808	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:613808	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:613808	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:613808	DRC1	92749	HP:0002205	Recurrent respiratory infections
OMIM:613808	DRC1	92749	HP:0000789	Infertility
OMIM:613808	DRC1	92749	HP:0000246	Sinusitis
OMIM:613808	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:613808	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:613808	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:613808	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:613808	SPAG1	6674	HP:0002205	Recurrent respiratory infections
OMIM:613808	SPAG1	6674	HP:0000789	Infertility
OMIM:613808	SPAG1	6674	HP:0000246	Sinusitis
OMIM:613808	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:613808	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:613808	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:613808	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:613808	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:613808	RSPH3	83861	HP:0000789	Infertility
OMIM:613808	RSPH3	83861	HP:0000246	Sinusitis
OMIM:613808	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:613808	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613808	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:613808	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:613808	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:613808	RPGR	6103	HP:0000789	Infertility
OMIM:613808	RPGR	6103	HP:0000246	Sinusitis
OMIM:613808	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:613808	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:613808	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:613808	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:613808	LRRC6	23639	HP:0002205	Recurrent respiratory infections
OMIM:613808	LRRC6	23639	HP:0000789	Infertility
OMIM:613808	LRRC6	23639	HP:0000246	Sinusitis
OMIM:613808	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:613808	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:613808	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:613808	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:613808	DNAL1	83544	HP:0002205	Recurrent respiratory infections
OMIM:613808	DNAL1	83544	HP:0000789	Infertility
OMIM:613808	DNAL1	83544	HP:0000246	Sinusitis
OMIM:613808	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:613808	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:613808	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:613808	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:613808	ARMC4	55130	HP:0002205	Recurrent respiratory infections
OMIM:613808	ARMC4	55130	HP:0000789	Infertility
OMIM:613808	ARMC4	55130	HP:0000246	Sinusitis
OMIM:613808	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:613808	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:613808	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:613808	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:613808	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:613808	CCDC103	388389	HP:0000789	Infertility
OMIM:613808	CCDC103	388389	HP:0000246	Sinusitis
OMIM:613808	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:613808	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613808	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:613808	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:613808	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:613808	OFD1	8481	HP:0000789	Infertility
OMIM:613808	OFD1	8481	HP:0000246	Sinusitis
OMIM:613808	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:613808	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:613808	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:613808	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:613808	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
OMIM:613808	DNAAF1	123872	HP:0000789	Infertility
OMIM:613808	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:613808	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:613808	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:613808	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:613808	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:613808	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
OMIM:613808	RSPH4A	345895	HP:0000789	Infertility
OMIM:613808	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:613808	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:613808	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:613808	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:613808	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:613808	RSPH1	89765	HP:0002205	Recurrent respiratory infections
OMIM:613808	RSPH1	89765	HP:0000789	Infertility
OMIM:613808	RSPH1	89765	HP:0000246	Sinusitis
OMIM:613808	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:613808	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:613808	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:613808	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:613808	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
OMIM:613808	ZMYND10	51364	HP:0000789	Infertility
OMIM:613808	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:613808	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:613808	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:613808	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:613808	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:613808	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:613808	DNAH5	1767	HP:0000789	Infertility
OMIM:613808	DNAH5	1767	HP:0000246	Sinusitis
OMIM:613808	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:613808	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:613808	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:613808	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:613808	CCDC65	85478	HP:0002205	Recurrent respiratory infections
OMIM:613808	CCDC65	85478	HP:0000789	Infertility
OMIM:613808	CCDC65	85478	HP:0000246	Sinusitis
OMIM:613808	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:613808	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:613808	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:613808	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:613808	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
OMIM:613808	C21ORF59	56683	HP:0000789	Infertility
OMIM:613808	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:613808	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:613808	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:613808	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:613808	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:613808	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
OMIM:613808	DYX1C1	161582	HP:0000789	Infertility
OMIM:613808	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:613808	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:613808	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:613808	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:613808	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:613808	CCDC151	115948	HP:0002205	Recurrent respiratory infections
OMIM:613808	CCDC151	115948	HP:0000789	Infertility
OMIM:613808	CCDC151	115948	HP:0000246	Sinusitis
OMIM:613808	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:613808	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:613808	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:613808	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:613808	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:613808	RSPH9	221421	HP:0000789	Infertility
OMIM:613808	RSPH9	221421	HP:0000246	Sinusitis
OMIM:613808	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:613808	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:613808	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:613808	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:613808	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:613808	CCDC39	339829	HP:0000789	Infertility
OMIM:613808	CCDC39	339829	HP:0000246	Sinusitis
OMIM:613808	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:613808	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:613808	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:613808	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:613808	HYDIN	54768	HP:0002205	Recurrent respiratory infections
OMIM:613808	HYDIN	54768	HP:0000789	Infertility
OMIM:613808	HYDIN	54768	HP:0000246	Sinusitis
OMIM:613808	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:613808	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:613808	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:613808	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:613808	CCDC114	93233	HP:0002205	Recurrent respiratory infections
OMIM:613808	CCDC114	93233	HP:0000789	Infertility
OMIM:613808	CCDC114	93233	HP:0000246	Sinusitis
OMIM:613808	NME8	51314	HP:0002110	Bronchiectasis
OMIM:613808	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:613808	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:613808	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:613808	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:613808	NME8	51314	HP:0000789	Infertility
OMIM:613808	NME8	51314	HP:0000246	Sinusitis
OMIM:613808	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:613808	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:613808	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:613808	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:613808	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:613808	CCDC40	55036	HP:0000789	Infertility
OMIM:613808	CCDC40	55036	HP:0000246	Sinusitis
OMIM:613808	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:613808	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:613808	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:613808	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:613808	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:613808	DNAH11	8701	HP:0000789	Infertility
OMIM:613808	DNAH11	8701	HP:0000246	Sinusitis
OMIM:613808	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:613808	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:613808	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:613808	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:613808	DNAI2	64446	HP:0002205	Recurrent respiratory infections
OMIM:613808	DNAI2	64446	HP:0000789	Infertility
OMIM:613808	DNAI2	64446	HP:0000246	Sinusitis
OMIM:613808	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:613808	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:613808	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:613808	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:613808	GAS8	2622	HP:0002205	Recurrent respiratory infections
OMIM:613808	GAS8	2622	HP:0000789	Infertility
OMIM:613808	GAS8	2622	HP:0000246	Sinusitis
OMIM:182230	GLI2	2736	HP:0000639	Nystagmus
OMIM:182230	GLI2	2736	HP:0000824	Growth hormone deficiency
OMIM:182230	GLI2	2736	HP:0004408	Abnormality of the sense of smell
OMIM:182230	GLI2	2736	HP:0000407	Sensorineural hearing impairment
OMIM:182230	GLI2	2736	HP:0010442	Polydactyly
OMIM:182230	GLI2	2736	HP:0000175	Cleft palate
OMIM:182230	GLI2	2736	HP:0000609	Optic nerve hypoplasia
OMIM:182230	GLI2	2736	HP:0000648	Optic atrophy
OMIM:182230	GLI2	2736	HP:0000505	Visual impairment
OMIM:182230	GLI2	2736	HP:0000873	Diabetes insipidus
OMIM:182230	GLI2	2736	HP:0000958	Dry skin
OMIM:182230	GLI2	2736	HP:0004322	Short stature
OMIM:182230	GLI2	2736	HP:0009800	Maternal diabetes
OMIM:182230	GLI2	2736	HP:0000486	Strabismus
OMIM:182230	GLI2	2736	HP:0002360	Sleep disturbance
OMIM:182230	GLI2	2736	HP:0001274	Agenesis of corpus callosum
OMIM:182230	GLI2	2736	HP:0000717	Autism
OMIM:182230	GLI2	2736	HP:0001263	Global developmental delay
OMIM:182230	GLI2	2736	HP:0100543	Cognitive impairment
OMIM:182230	GLI2	2736	HP:0000028	Cryptorchidism
OMIM:182230	GLI2	2736	HP:0009381	Short finger
OMIM:182230	GLI2	2736	HP:0012211	Abnormal renal physiology
OMIM:182230	GLI2	2736	HP:0000007	Autosomal recessive inheritance
OMIM:182230	GLI2	2736	HP:0002019	Constipation
OMIM:182230	GLI2	2736	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:182230	GLI2	2736	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182230	GLI2	2736	HP:0003812	Phenotypic variability
OMIM:182230	GLI2	2736	HP:0007766	Optic disc hypoplasia
OMIM:182230	GLI2	2736	HP:0000830	Anterior hypopituitarism
OMIM:182230	GLI2	2736	HP:0001513	Obesity
OMIM:182230	GLI2	2736	HP:0004374	Hemiplegia/hemiparesis
OMIM:182230	GLI2	2736	HP:0001250	Seizures
OMIM:182230	GLI2	2736	HP:0000966	Hypohidrosis
OMIM:182230	GLI2	2736	HP:0002575	Tracheoesophageal fistula
OMIM:182230	GLI2	2736	HP:0008736	Hypoplasia of penis
OMIM:182230	GLI2	2736	HP:0000006	Autosomal dominant inheritance
OMIM:182230	SOX2	6657	HP:0000639	Nystagmus
OMIM:182230	SOX2	6657	HP:0000824	Growth hormone deficiency
OMIM:182230	SOX2	6657	HP:0004408	Abnormality of the sense of smell
OMIM:182230	SOX2	6657	HP:0000407	Sensorineural hearing impairment
OMIM:182230	SOX2	6657	HP:0010442	Polydactyly
OMIM:182230	SOX2	6657	HP:0000175	Cleft palate
OMIM:182230	SOX2	6657	HP:0000609	Optic nerve hypoplasia
OMIM:182230	SOX2	6657	HP:0000648	Optic atrophy
OMIM:182230	SOX2	6657	HP:0000505	Visual impairment
OMIM:182230	SOX2	6657	HP:0000873	Diabetes insipidus
OMIM:182230	SOX2	6657	HP:0000958	Dry skin
OMIM:182230	SOX2	6657	HP:0004322	Short stature
OMIM:182230	SOX2	6657	HP:0009800	Maternal diabetes
OMIM:182230	SOX2	6657	HP:0000486	Strabismus
OMIM:182230	SOX2	6657	HP:0002360	Sleep disturbance
OMIM:182230	SOX2	6657	HP:0001274	Agenesis of corpus callosum
OMIM:182230	SOX2	6657	HP:0000717	Autism
OMIM:182230	SOX2	6657	HP:0001263	Global developmental delay
OMIM:182230	SOX2	6657	HP:0100543	Cognitive impairment
OMIM:182230	SOX2	6657	HP:0000028	Cryptorchidism
OMIM:182230	SOX2	6657	HP:0009381	Short finger
OMIM:182230	SOX2	6657	HP:0012211	Abnormal renal physiology
OMIM:182230	SOX2	6657	HP:0000007	Autosomal recessive inheritance
OMIM:182230	SOX2	6657	HP:0002019	Constipation
OMIM:182230	SOX2	6657	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:182230	SOX2	6657	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182230	SOX2	6657	HP:0003812	Phenotypic variability
OMIM:182230	SOX2	6657	HP:0007766	Optic disc hypoplasia
OMIM:182230	SOX2	6657	HP:0000830	Anterior hypopituitarism
OMIM:182230	SOX2	6657	HP:0001513	Obesity
OMIM:182230	SOX2	6657	HP:0004374	Hemiplegia/hemiparesis
OMIM:182230	SOX2	6657	HP:0001250	Seizures
OMIM:182230	SOX2	6657	HP:0000966	Hypohidrosis
OMIM:182230	SOX2	6657	HP:0002575	Tracheoesophageal fistula
OMIM:182230	SOX2	6657	HP:0008736	Hypoplasia of penis
OMIM:182230	SOX2	6657	HP:0000006	Autosomal dominant inheritance
OMIM:182230	SOX3	6658	HP:0000639	Nystagmus
OMIM:182230	SOX3	6658	HP:0000824	Growth hormone deficiency
OMIM:182230	SOX3	6658	HP:0004408	Abnormality of the sense of smell
OMIM:182230	SOX3	6658	HP:0000407	Sensorineural hearing impairment
OMIM:182230	SOX3	6658	HP:0010442	Polydactyly
OMIM:182230	SOX3	6658	HP:0000175	Cleft palate
OMIM:182230	SOX3	6658	HP:0000609	Optic nerve hypoplasia
OMIM:182230	SOX3	6658	HP:0000648	Optic atrophy
OMIM:182230	SOX3	6658	HP:0000505	Visual impairment
OMIM:182230	SOX3	6658	HP:0000873	Diabetes insipidus
OMIM:182230	SOX3	6658	HP:0000958	Dry skin
OMIM:182230	SOX3	6658	HP:0004322	Short stature
OMIM:182230	SOX3	6658	HP:0009800	Maternal diabetes
OMIM:182230	SOX3	6658	HP:0000486	Strabismus
OMIM:182230	SOX3	6658	HP:0002360	Sleep disturbance
OMIM:182230	SOX3	6658	HP:0001274	Agenesis of corpus callosum
OMIM:182230	SOX3	6658	HP:0000717	Autism
OMIM:182230	SOX3	6658	HP:0001263	Global developmental delay
OMIM:182230	SOX3	6658	HP:0100543	Cognitive impairment
OMIM:182230	SOX3	6658	HP:0000028	Cryptorchidism
OMIM:182230	SOX3	6658	HP:0009381	Short finger
OMIM:182230	SOX3	6658	HP:0012211	Abnormal renal physiology
OMIM:182230	SOX3	6658	HP:0000007	Autosomal recessive inheritance
OMIM:182230	SOX3	6658	HP:0002019	Constipation
OMIM:182230	SOX3	6658	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:182230	SOX3	6658	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182230	SOX3	6658	HP:0003812	Phenotypic variability
OMIM:182230	SOX3	6658	HP:0007766	Optic disc hypoplasia
OMIM:182230	SOX3	6658	HP:0000830	Anterior hypopituitarism
OMIM:182230	SOX3	6658	HP:0001513	Obesity
OMIM:182230	SOX3	6658	HP:0004374	Hemiplegia/hemiparesis
OMIM:182230	SOX3	6658	HP:0001250	Seizures
OMIM:182230	SOX3	6658	HP:0000966	Hypohidrosis
OMIM:182230	SOX3	6658	HP:0002575	Tracheoesophageal fistula
OMIM:182230	SOX3	6658	HP:0008736	Hypoplasia of penis
OMIM:182230	SOX3	6658	HP:0000006	Autosomal dominant inheritance
OMIM:182230	PROKR2	128674	HP:0000639	Nystagmus
OMIM:182230	PROKR2	128674	HP:0000824	Growth hormone deficiency
OMIM:182230	PROKR2	128674	HP:0004408	Abnormality of the sense of smell
OMIM:182230	PROKR2	128674	HP:0000407	Sensorineural hearing impairment
OMIM:182230	PROKR2	128674	HP:0010442	Polydactyly
OMIM:182230	PROKR2	128674	HP:0000175	Cleft palate
OMIM:182230	PROKR2	128674	HP:0000609	Optic nerve hypoplasia
OMIM:182230	PROKR2	128674	HP:0000648	Optic atrophy
OMIM:182230	PROKR2	128674	HP:0000505	Visual impairment
OMIM:182230	PROKR2	128674	HP:0000873	Diabetes insipidus
OMIM:182230	PROKR2	128674	HP:0000958	Dry skin
OMIM:182230	PROKR2	128674	HP:0004322	Short stature
OMIM:182230	PROKR2	128674	HP:0009800	Maternal diabetes
OMIM:182230	PROKR2	128674	HP:0000486	Strabismus
OMIM:182230	PROKR2	128674	HP:0002360	Sleep disturbance
OMIM:182230	PROKR2	128674	HP:0001274	Agenesis of corpus callosum
OMIM:182230	PROKR2	128674	HP:0000717	Autism
OMIM:182230	PROKR2	128674	HP:0001263	Global developmental delay
OMIM:182230	PROKR2	128674	HP:0100543	Cognitive impairment
OMIM:182230	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:182230	PROKR2	128674	HP:0009381	Short finger
OMIM:182230	PROKR2	128674	HP:0012211	Abnormal renal physiology
OMIM:182230	PROKR2	128674	HP:0000007	Autosomal recessive inheritance
OMIM:182230	PROKR2	128674	HP:0002019	Constipation
OMIM:182230	PROKR2	128674	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:182230	PROKR2	128674	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182230	PROKR2	128674	HP:0003812	Phenotypic variability
OMIM:182230	PROKR2	128674	HP:0007766	Optic disc hypoplasia
OMIM:182230	PROKR2	128674	HP:0000830	Anterior hypopituitarism
OMIM:182230	PROKR2	128674	HP:0001513	Obesity
OMIM:182230	PROKR2	128674	HP:0004374	Hemiplegia/hemiparesis
OMIM:182230	PROKR2	128674	HP:0001250	Seizures
OMIM:182230	PROKR2	128674	HP:0000966	Hypohidrosis
OMIM:182230	PROKR2	128674	HP:0002575	Tracheoesophageal fistula
OMIM:182230	PROKR2	128674	HP:0008736	Hypoplasia of penis
OMIM:182230	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:182230	HESX1	8820	HP:0000639	Nystagmus
OMIM:182230	HESX1	8820	HP:0000824	Growth hormone deficiency
OMIM:182230	HESX1	8820	HP:0004408	Abnormality of the sense of smell
OMIM:182230	HESX1	8820	HP:0000407	Sensorineural hearing impairment
OMIM:182230	HESX1	8820	HP:0010442	Polydactyly
OMIM:182230	HESX1	8820	HP:0000175	Cleft palate
OMIM:182230	HESX1	8820	HP:0000609	Optic nerve hypoplasia
OMIM:182230	HESX1	8820	HP:0000648	Optic atrophy
OMIM:182230	HESX1	8820	HP:0000505	Visual impairment
OMIM:182230	HESX1	8820	HP:0000873	Diabetes insipidus
OMIM:182230	HESX1	8820	HP:0000958	Dry skin
OMIM:182230	HESX1	8820	HP:0004322	Short stature
OMIM:182230	HESX1	8820	HP:0009800	Maternal diabetes
OMIM:182230	HESX1	8820	HP:0000486	Strabismus
OMIM:182230	HESX1	8820	HP:0002360	Sleep disturbance
OMIM:182230	HESX1	8820	HP:0001274	Agenesis of corpus callosum
OMIM:182230	HESX1	8820	HP:0000717	Autism
OMIM:182230	HESX1	8820	HP:0001263	Global developmental delay
OMIM:182230	HESX1	8820	HP:0100543	Cognitive impairment
OMIM:182230	HESX1	8820	HP:0000028	Cryptorchidism
OMIM:182230	HESX1	8820	HP:0009381	Short finger
OMIM:182230	HESX1	8820	HP:0012211	Abnormal renal physiology
OMIM:182230	HESX1	8820	HP:0000007	Autosomal recessive inheritance
OMIM:182230	HESX1	8820	HP:0002019	Constipation
OMIM:182230	HESX1	8820	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:182230	HESX1	8820	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182230	HESX1	8820	HP:0003812	Phenotypic variability
OMIM:182230	HESX1	8820	HP:0007766	Optic disc hypoplasia
OMIM:182230	HESX1	8820	HP:0000830	Anterior hypopituitarism
OMIM:182230	HESX1	8820	HP:0001513	Obesity
OMIM:182230	HESX1	8820	HP:0004374	Hemiplegia/hemiparesis
OMIM:182230	HESX1	8820	HP:0001250	Seizures
OMIM:182230	HESX1	8820	HP:0000966	Hypohidrosis
OMIM:182230	HESX1	8820	HP:0002575	Tracheoesophageal fistula
OMIM:182230	HESX1	8820	HP:0008736	Hypoplasia of penis
OMIM:182230	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:182230	FGFR1	2260	HP:0000639	Nystagmus
OMIM:182230	FGFR1	2260	HP:0000824	Growth hormone deficiency
OMIM:182230	FGFR1	2260	HP:0004408	Abnormality of the sense of smell
OMIM:182230	FGFR1	2260	HP:0000407	Sensorineural hearing impairment
OMIM:182230	FGFR1	2260	HP:0010442	Polydactyly
OMIM:182230	FGFR1	2260	HP:0000175	Cleft palate
OMIM:182230	FGFR1	2260	HP:0000609	Optic nerve hypoplasia
OMIM:182230	FGFR1	2260	HP:0000648	Optic atrophy
OMIM:182230	FGFR1	2260	HP:0000505	Visual impairment
OMIM:182230	FGFR1	2260	HP:0000873	Diabetes insipidus
OMIM:182230	FGFR1	2260	HP:0000958	Dry skin
OMIM:182230	FGFR1	2260	HP:0004322	Short stature
OMIM:182230	FGFR1	2260	HP:0009800	Maternal diabetes
OMIM:182230	FGFR1	2260	HP:0000486	Strabismus
OMIM:182230	FGFR1	2260	HP:0002360	Sleep disturbance
OMIM:182230	FGFR1	2260	HP:0001274	Agenesis of corpus callosum
OMIM:182230	FGFR1	2260	HP:0000717	Autism
OMIM:182230	FGFR1	2260	HP:0001263	Global developmental delay
OMIM:182230	FGFR1	2260	HP:0100543	Cognitive impairment
OMIM:182230	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:182230	FGFR1	2260	HP:0009381	Short finger
OMIM:182230	FGFR1	2260	HP:0012211	Abnormal renal physiology
OMIM:182230	FGFR1	2260	HP:0000007	Autosomal recessive inheritance
OMIM:182230	FGFR1	2260	HP:0002019	Constipation
OMIM:182230	FGFR1	2260	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:182230	FGFR1	2260	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182230	FGFR1	2260	HP:0003812	Phenotypic variability
OMIM:182230	FGFR1	2260	HP:0007766	Optic disc hypoplasia
OMIM:182230	FGFR1	2260	HP:0000830	Anterior hypopituitarism
OMIM:182230	FGFR1	2260	HP:0001513	Obesity
OMIM:182230	FGFR1	2260	HP:0004374	Hemiplegia/hemiparesis
OMIM:182230	FGFR1	2260	HP:0001250	Seizures
OMIM:182230	FGFR1	2260	HP:0000966	Hypohidrosis
OMIM:182230	FGFR1	2260	HP:0002575	Tracheoesophageal fistula
OMIM:182230	FGFR1	2260	HP:0008736	Hypoplasia of penis
OMIM:182230	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:182230	OTX2	5015	HP:0000639	Nystagmus
OMIM:182230	OTX2	5015	HP:0000824	Growth hormone deficiency
OMIM:182230	OTX2	5015	HP:0004408	Abnormality of the sense of smell
OMIM:182230	OTX2	5015	HP:0000407	Sensorineural hearing impairment
OMIM:182230	OTX2	5015	HP:0010442	Polydactyly
OMIM:182230	OTX2	5015	HP:0000175	Cleft palate
OMIM:182230	OTX2	5015	HP:0000609	Optic nerve hypoplasia
OMIM:182230	OTX2	5015	HP:0000648	Optic atrophy
OMIM:182230	OTX2	5015	HP:0000505	Visual impairment
OMIM:182230	OTX2	5015	HP:0000873	Diabetes insipidus
OMIM:182230	OTX2	5015	HP:0000958	Dry skin
OMIM:182230	OTX2	5015	HP:0004322	Short stature
OMIM:182230	OTX2	5015	HP:0009800	Maternal diabetes
OMIM:182230	OTX2	5015	HP:0000486	Strabismus
OMIM:182230	OTX2	5015	HP:0002360	Sleep disturbance
OMIM:182230	OTX2	5015	HP:0001274	Agenesis of corpus callosum
OMIM:182230	OTX2	5015	HP:0000717	Autism
OMIM:182230	OTX2	5015	HP:0001263	Global developmental delay
OMIM:182230	OTX2	5015	HP:0100543	Cognitive impairment
OMIM:182230	OTX2	5015	HP:0000028	Cryptorchidism
OMIM:182230	OTX2	5015	HP:0009381	Short finger
OMIM:182230	OTX2	5015	HP:0012211	Abnormal renal physiology
OMIM:182230	OTX2	5015	HP:0000007	Autosomal recessive inheritance
OMIM:182230	OTX2	5015	HP:0002019	Constipation
OMIM:182230	OTX2	5015	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:182230	OTX2	5015	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182230	OTX2	5015	HP:0003812	Phenotypic variability
OMIM:182230	OTX2	5015	HP:0007766	Optic disc hypoplasia
OMIM:182230	OTX2	5015	HP:0000830	Anterior hypopituitarism
OMIM:182230	OTX2	5015	HP:0001513	Obesity
OMIM:182230	OTX2	5015	HP:0004374	Hemiplegia/hemiparesis
OMIM:182230	OTX2	5015	HP:0001250	Seizures
OMIM:182230	OTX2	5015	HP:0000966	Hypohidrosis
OMIM:182230	OTX2	5015	HP:0002575	Tracheoesophageal fistula
OMIM:182230	OTX2	5015	HP:0008736	Hypoplasia of penis
OMIM:182230	OTX2	5015	HP:0000006	Autosomal dominant inheritance
OMIM:182230	POU1F1	5449	HP:0000639	Nystagmus
OMIM:182230	POU1F1	5449	HP:0000824	Growth hormone deficiency
OMIM:182230	POU1F1	5449	HP:0004408	Abnormality of the sense of smell
OMIM:182230	POU1F1	5449	HP:0000407	Sensorineural hearing impairment
OMIM:182230	POU1F1	5449	HP:0010442	Polydactyly
OMIM:182230	POU1F1	5449	HP:0000175	Cleft palate
OMIM:182230	POU1F1	5449	HP:0000609	Optic nerve hypoplasia
OMIM:182230	POU1F1	5449	HP:0000648	Optic atrophy
OMIM:182230	POU1F1	5449	HP:0000505	Visual impairment
OMIM:182230	POU1F1	5449	HP:0000873	Diabetes insipidus
OMIM:182230	POU1F1	5449	HP:0000958	Dry skin
OMIM:182230	POU1F1	5449	HP:0004322	Short stature
OMIM:182230	POU1F1	5449	HP:0009800	Maternal diabetes
OMIM:182230	POU1F1	5449	HP:0000486	Strabismus
OMIM:182230	POU1F1	5449	HP:0002360	Sleep disturbance
OMIM:182230	POU1F1	5449	HP:0001274	Agenesis of corpus callosum
OMIM:182230	POU1F1	5449	HP:0000717	Autism
OMIM:182230	POU1F1	5449	HP:0001263	Global developmental delay
OMIM:182230	POU1F1	5449	HP:0100543	Cognitive impairment
OMIM:182230	POU1F1	5449	HP:0000028	Cryptorchidism
OMIM:182230	POU1F1	5449	HP:0009381	Short finger
OMIM:182230	POU1F1	5449	HP:0012211	Abnormal renal physiology
OMIM:182230	POU1F1	5449	HP:0000007	Autosomal recessive inheritance
OMIM:182230	POU1F1	5449	HP:0002019	Constipation
OMIM:182230	POU1F1	5449	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:182230	POU1F1	5449	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182230	POU1F1	5449	HP:0003812	Phenotypic variability
OMIM:182230	POU1F1	5449	HP:0007766	Optic disc hypoplasia
OMIM:182230	POU1F1	5449	HP:0000830	Anterior hypopituitarism
OMIM:182230	POU1F1	5449	HP:0001513	Obesity
OMIM:182230	POU1F1	5449	HP:0004374	Hemiplegia/hemiparesis
OMIM:182230	POU1F1	5449	HP:0001250	Seizures
OMIM:182230	POU1F1	5449	HP:0000966	Hypohidrosis
OMIM:182230	POU1F1	5449	HP:0002575	Tracheoesophageal fistula
OMIM:182230	POU1F1	5449	HP:0008736	Hypoplasia of penis
OMIM:182230	POU1F1	5449	HP:0000006	Autosomal dominant inheritance
OMIM:182230	PROP1	5626	HP:0000639	Nystagmus
OMIM:182230	PROP1	5626	HP:0000824	Growth hormone deficiency
OMIM:182230	PROP1	5626	HP:0004408	Abnormality of the sense of smell
OMIM:182230	PROP1	5626	HP:0000407	Sensorineural hearing impairment
OMIM:182230	PROP1	5626	HP:0010442	Polydactyly
OMIM:182230	PROP1	5626	HP:0000175	Cleft palate
OMIM:182230	PROP1	5626	HP:0000609	Optic nerve hypoplasia
OMIM:182230	PROP1	5626	HP:0000648	Optic atrophy
OMIM:182230	PROP1	5626	HP:0000505	Visual impairment
OMIM:182230	PROP1	5626	HP:0000873	Diabetes insipidus
OMIM:182230	PROP1	5626	HP:0000958	Dry skin
OMIM:182230	PROP1	5626	HP:0004322	Short stature
OMIM:182230	PROP1	5626	HP:0009800	Maternal diabetes
OMIM:182230	PROP1	5626	HP:0000486	Strabismus
OMIM:182230	PROP1	5626	HP:0002360	Sleep disturbance
OMIM:182230	PROP1	5626	HP:0001274	Agenesis of corpus callosum
OMIM:182230	PROP1	5626	HP:0000717	Autism
OMIM:182230	PROP1	5626	HP:0001263	Global developmental delay
OMIM:182230	PROP1	5626	HP:0100543	Cognitive impairment
OMIM:182230	PROP1	5626	HP:0000028	Cryptorchidism
OMIM:182230	PROP1	5626	HP:0009381	Short finger
OMIM:182230	PROP1	5626	HP:0012211	Abnormal renal physiology
OMIM:182230	PROP1	5626	HP:0000007	Autosomal recessive inheritance
OMIM:182230	PROP1	5626	HP:0002019	Constipation
OMIM:182230	PROP1	5626	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:182230	PROP1	5626	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182230	PROP1	5626	HP:0003812	Phenotypic variability
OMIM:182230	PROP1	5626	HP:0007766	Optic disc hypoplasia
OMIM:182230	PROP1	5626	HP:0000830	Anterior hypopituitarism
OMIM:182230	PROP1	5626	HP:0001513	Obesity
OMIM:182230	PROP1	5626	HP:0004374	Hemiplegia/hemiparesis
OMIM:182230	PROP1	5626	HP:0001250	Seizures
OMIM:182230	PROP1	5626	HP:0000966	Hypohidrosis
OMIM:182230	PROP1	5626	HP:0002575	Tracheoesophageal fistula
OMIM:182230	PROP1	5626	HP:0008736	Hypoplasia of penis
OMIM:182230	PROP1	5626	HP:0000006	Autosomal dominant inheritance
OMIM:182230	LHX4	89884	HP:0000639	Nystagmus
OMIM:182230	LHX4	89884	HP:0000824	Growth hormone deficiency
OMIM:182230	LHX4	89884	HP:0004408	Abnormality of the sense of smell
OMIM:182230	LHX4	89884	HP:0000407	Sensorineural hearing impairment
OMIM:182230	LHX4	89884	HP:0010442	Polydactyly
OMIM:182230	LHX4	89884	HP:0000175	Cleft palate
OMIM:182230	LHX4	89884	HP:0000609	Optic nerve hypoplasia
OMIM:182230	LHX4	89884	HP:0000648	Optic atrophy
OMIM:182230	LHX4	89884	HP:0000505	Visual impairment
OMIM:182230	LHX4	89884	HP:0000873	Diabetes insipidus
OMIM:182230	LHX4	89884	HP:0000958	Dry skin
OMIM:182230	LHX4	89884	HP:0004322	Short stature
OMIM:182230	LHX4	89884	HP:0009800	Maternal diabetes
OMIM:182230	LHX4	89884	HP:0000486	Strabismus
OMIM:182230	LHX4	89884	HP:0002360	Sleep disturbance
OMIM:182230	LHX4	89884	HP:0001274	Agenesis of corpus callosum
OMIM:182230	LHX4	89884	HP:0000717	Autism
OMIM:182230	LHX4	89884	HP:0001263	Global developmental delay
OMIM:182230	LHX4	89884	HP:0100543	Cognitive impairment
OMIM:182230	LHX4	89884	HP:0000028	Cryptorchidism
OMIM:182230	LHX4	89884	HP:0009381	Short finger
OMIM:182230	LHX4	89884	HP:0012211	Abnormal renal physiology
OMIM:182230	LHX4	89884	HP:0000007	Autosomal recessive inheritance
OMIM:182230	LHX4	89884	HP:0002019	Constipation
OMIM:182230	LHX4	89884	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:182230	LHX4	89884	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182230	LHX4	89884	HP:0003812	Phenotypic variability
OMIM:182230	LHX4	89884	HP:0007766	Optic disc hypoplasia
OMIM:182230	LHX4	89884	HP:0000830	Anterior hypopituitarism
OMIM:182230	LHX4	89884	HP:0001513	Obesity
OMIM:182230	LHX4	89884	HP:0004374	Hemiplegia/hemiparesis
OMIM:182230	LHX4	89884	HP:0001250	Seizures
OMIM:182230	LHX4	89884	HP:0000966	Hypohidrosis
OMIM:182230	LHX4	89884	HP:0002575	Tracheoesophageal fistula
OMIM:182230	LHX4	89884	HP:0008736	Hypoplasia of penis
OMIM:182230	LHX4	89884	HP:0000006	Autosomal dominant inheritance
OMIM:610188	ZNF423	23090	HP:0000480	Retinal coloboma
OMIM:610188	ZNF423	23090	HP:0007875	Congenital blindness
OMIM:610188	ZNF423	23090	HP:0002871	Central apnea
OMIM:610188	ZNF423	23090	HP:0000803	Renal cortical cysts
OMIM:610188	ZNF423	23090	HP:0001251	Ataxia
OMIM:610188	ZNF423	23090	HP:0003774	Stage 5 chronic kidney disease
OMIM:610188	ZNF423	23090	HP:0000639	Nystagmus
OMIM:610188	ZNF423	23090	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610188	ZNF423	23090	HP:0002419	Molar tooth sign on MRI
OMIM:610188	ZNF423	23090	HP:0001249	Intellectual disability
OMIM:610188	ZNF423	23090	HP:0001252	Muscular hypotonia
OMIM:610188	ZNF423	23090	HP:0002335	Agenesis of cerebellar vermis
OMIM:610188	ZNF423	23090	HP:0000657	Oculomotor apraxia
OMIM:610188	ZNF423	23090	HP:0002876	Episodic tachypnea
OMIM:610188	ZNF423	23090	HP:0002790	Neonatal breathing dysregulation
OMIM:610188	ZNF423	23090	HP:0000090	Nephronophthisis
OMIM:610188	ZNF423	23090	HP:0000007	Autosomal recessive inheritance
OMIM:610188	ZNF423	23090	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:610188	TMEM138	51524	HP:0000480	Retinal coloboma
OMIM:610188	TMEM138	51524	HP:0007875	Congenital blindness
OMIM:610188	TMEM138	51524	HP:0002871	Central apnea
OMIM:610188	TMEM138	51524	HP:0000803	Renal cortical cysts
OMIM:610188	TMEM138	51524	HP:0001251	Ataxia
OMIM:610188	TMEM138	51524	HP:0003774	Stage 5 chronic kidney disease
OMIM:610188	TMEM138	51524	HP:0000639	Nystagmus
OMIM:610188	TMEM138	51524	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610188	TMEM138	51524	HP:0002419	Molar tooth sign on MRI
OMIM:610188	TMEM138	51524	HP:0001249	Intellectual disability
OMIM:610188	TMEM138	51524	HP:0001252	Muscular hypotonia
OMIM:610188	TMEM138	51524	HP:0002335	Agenesis of cerebellar vermis
OMIM:610188	TMEM138	51524	HP:0000657	Oculomotor apraxia
OMIM:610188	TMEM138	51524	HP:0002876	Episodic tachypnea
OMIM:610188	TMEM138	51524	HP:0002790	Neonatal breathing dysregulation
OMIM:610188	TMEM138	51524	HP:0000090	Nephronophthisis
OMIM:610188	TMEM138	51524	HP:0000007	Autosomal recessive inheritance
OMIM:610188	TMEM138	51524	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:610188	TMEM237	65062	HP:0000480	Retinal coloboma
OMIM:610188	TMEM237	65062	HP:0007875	Congenital blindness
OMIM:610188	TMEM237	65062	HP:0002871	Central apnea
OMIM:610188	TMEM237	65062	HP:0000803	Renal cortical cysts
OMIM:610188	TMEM237	65062	HP:0001251	Ataxia
OMIM:610188	TMEM237	65062	HP:0003774	Stage 5 chronic kidney disease
OMIM:610188	TMEM237	65062	HP:0000639	Nystagmus
OMIM:610188	TMEM237	65062	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610188	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:610188	TMEM237	65062	HP:0001249	Intellectual disability
OMIM:610188	TMEM237	65062	HP:0001252	Muscular hypotonia
OMIM:610188	TMEM237	65062	HP:0002335	Agenesis of cerebellar vermis
OMIM:610188	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:610188	TMEM237	65062	HP:0002876	Episodic tachypnea
OMIM:610188	TMEM237	65062	HP:0002790	Neonatal breathing dysregulation
OMIM:610188	TMEM237	65062	HP:0000090	Nephronophthisis
OMIM:610188	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:610188	TMEM237	65062	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:610188	CEP290	80184	HP:0000480	Retinal coloboma
OMIM:610188	CEP290	80184	HP:0007875	Congenital blindness
OMIM:610188	CEP290	80184	HP:0002871	Central apnea
OMIM:610188	CEP290	80184	HP:0000803	Renal cortical cysts
OMIM:610188	CEP290	80184	HP:0001251	Ataxia
OMIM:610188	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
OMIM:610188	CEP290	80184	HP:0000639	Nystagmus
OMIM:610188	CEP290	80184	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610188	CEP290	80184	HP:0002419	Molar tooth sign on MRI
OMIM:610188	CEP290	80184	HP:0001249	Intellectual disability
OMIM:610188	CEP290	80184	HP:0001252	Muscular hypotonia
OMIM:610188	CEP290	80184	HP:0002335	Agenesis of cerebellar vermis
OMIM:610188	CEP290	80184	HP:0000657	Oculomotor apraxia
OMIM:610188	CEP290	80184	HP:0002876	Episodic tachypnea
OMIM:610188	CEP290	80184	HP:0002790	Neonatal breathing dysregulation
OMIM:610188	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:610188	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:610188	CEP290	80184	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:610188	CC2D2A	57545	HP:0000480	Retinal coloboma
OMIM:610188	CC2D2A	57545	HP:0007875	Congenital blindness
OMIM:610188	CC2D2A	57545	HP:0002871	Central apnea
OMIM:610188	CC2D2A	57545	HP:0000803	Renal cortical cysts
OMIM:610188	CC2D2A	57545	HP:0001251	Ataxia
OMIM:610188	CC2D2A	57545	HP:0003774	Stage 5 chronic kidney disease
OMIM:610188	CC2D2A	57545	HP:0000639	Nystagmus
OMIM:610188	CC2D2A	57545	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610188	CC2D2A	57545	HP:0002419	Molar tooth sign on MRI
OMIM:610188	CC2D2A	57545	HP:0001249	Intellectual disability
OMIM:610188	CC2D2A	57545	HP:0001252	Muscular hypotonia
OMIM:610188	CC2D2A	57545	HP:0002335	Agenesis of cerebellar vermis
OMIM:610188	CC2D2A	57545	HP:0000657	Oculomotor apraxia
OMIM:610188	CC2D2A	57545	HP:0002876	Episodic tachypnea
OMIM:610188	CC2D2A	57545	HP:0002790	Neonatal breathing dysregulation
OMIM:610188	CC2D2A	57545	HP:0000090	Nephronophthisis
OMIM:610188	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:610188	CC2D2A	57545	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:610188	TMEM216	51259	HP:0000480	Retinal coloboma
OMIM:610188	TMEM216	51259	HP:0007875	Congenital blindness
OMIM:610188	TMEM216	51259	HP:0002871	Central apnea
OMIM:610188	TMEM216	51259	HP:0000803	Renal cortical cysts
OMIM:610188	TMEM216	51259	HP:0001251	Ataxia
OMIM:610188	TMEM216	51259	HP:0003774	Stage 5 chronic kidney disease
OMIM:610188	TMEM216	51259	HP:0000639	Nystagmus
OMIM:610188	TMEM216	51259	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610188	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
OMIM:610188	TMEM216	51259	HP:0001249	Intellectual disability
OMIM:610188	TMEM216	51259	HP:0001252	Muscular hypotonia
OMIM:610188	TMEM216	51259	HP:0002335	Agenesis of cerebellar vermis
OMIM:610188	TMEM216	51259	HP:0000657	Oculomotor apraxia
OMIM:610188	TMEM216	51259	HP:0002876	Episodic tachypnea
OMIM:610188	TMEM216	51259	HP:0002790	Neonatal breathing dysregulation
OMIM:610188	TMEM216	51259	HP:0000090	Nephronophthisis
OMIM:610188	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:610188	TMEM216	51259	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:610188	TMEM231	79583	HP:0000480	Retinal coloboma
OMIM:610188	TMEM231	79583	HP:0007875	Congenital blindness
OMIM:610188	TMEM231	79583	HP:0002871	Central apnea
OMIM:610188	TMEM231	79583	HP:0000803	Renal cortical cysts
OMIM:610188	TMEM231	79583	HP:0001251	Ataxia
OMIM:610188	TMEM231	79583	HP:0003774	Stage 5 chronic kidney disease
OMIM:610188	TMEM231	79583	HP:0000639	Nystagmus
OMIM:610188	TMEM231	79583	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610188	TMEM231	79583	HP:0002419	Molar tooth sign on MRI
OMIM:610188	TMEM231	79583	HP:0001249	Intellectual disability
OMIM:610188	TMEM231	79583	HP:0001252	Muscular hypotonia
OMIM:610188	TMEM231	79583	HP:0002335	Agenesis of cerebellar vermis
OMIM:610188	TMEM231	79583	HP:0000657	Oculomotor apraxia
OMIM:610188	TMEM231	79583	HP:0002876	Episodic tachypnea
OMIM:610188	TMEM231	79583	HP:0002790	Neonatal breathing dysregulation
OMIM:610188	TMEM231	79583	HP:0000090	Nephronophthisis
OMIM:610188	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:610188	TMEM231	79583	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:615763	TUBB2A	7280	HP:0002119	Ventriculomegaly
OMIM:615763	TUBB2A	7280	HP:0001252	Muscular hypotonia
OMIM:615763	TUBB2A	7280	HP:0002539	Cortical dysplasia
OMIM:615763	TUBB2A	7280	HP:0002521	Hypsarrhythmia
OMIM:615763	TUBB2A	7280	HP:0001250	Seizures
OMIM:615763	TUBB2A	7280	HP:0001263	Global developmental delay
OMIM:615763	TUBB2A	7280	HP:0002365	Hypoplasia of the brainstem
OMIM:615763	TUBB2A	7280	HP:0009879	Cortical gyral simplification
OMIM:615763	TUBB2A	7280	HP:0002079	Hypoplasia of the corpus callosum
ORPHANET:2311	MESP2	145873	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2311	MESP2	145873	HP:0003298	Spina bifida occulta
ORPHANET:2311	MESP2	145873	HP:0000256	Macrocephaly
ORPHANET:2311	MESP2	145873	HP:0005280	Depressed nasal bridge
ORPHANET:2311	MESP2	145873	HP:0000269	Prominent occiput
ORPHANET:2311	MESP2	145873	HP:0000069	Abnormality of the ureter
ORPHANET:2311	MESP2	145873	HP:0000772	Abnormality of the ribs
ORPHANET:2311	MESP2	145873	HP:0010978	Abnormality of immune system physiology
ORPHANET:2311	MESP2	145873	HP:0000337	Broad forehead
ORPHANET:2311	MESP2	145873	HP:0003422	Vertebral segmentation defect
ORPHANET:2311	MESP2	145873	HP:0100589	Urogenital fistula
ORPHANET:2311	MESP2	145873	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2311	MESP2	145873	HP:0000252	Microcephaly
ORPHANET:2311	MESP2	145873	HP:0000470	Short neck
ORPHANET:2311	MESP2	145873	HP:0002093	Respiratory insufficiency
ORPHANET:2311	MESP2	145873	HP:0100543	Cognitive impairment
ORPHANET:2311	MESP2	145873	HP:0000463	Anteverted nares
ORPHANET:2311	MESP2	145873	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:2311	MESP2	145873	HP:0000175	Cleft palate
ORPHANET:2311	MESP2	145873	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2311	MESP2	145873	HP:0002650	Scoliosis
ORPHANET:2311	MESP2	145873	HP:0006101	Finger syndactyly
ORPHANET:2311	MESP2	145873	HP:0002435	Meningocele
ORPHANET:2311	MESP2	145873	HP:0000028	Cryptorchidism
ORPHANET:2311	MESP2	145873	HP:0004322	Short stature
ORPHANET:2311	MESP2	145873	HP:0001537	Umbilical hernia
ORPHANET:2311	MESP2	145873	HP:0100490	Camptodactyly of finger
ORPHANET:2311	MESP2	145873	HP:0000008	Abnormality of female internal genitalia
ORPHANET:2311	MESP2	145873	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2311	MESP2	145873	HP:0000343	Long philtrum
ORPHANET:2311	MESP2	145873	HP:0001511	Intrauterine growth retardation
ORPHANET:2311	MESP2	145873	HP:0002808	Kyphosis
ORPHANET:2311	MESP2	145873	HP:0010306	Short thorax
ORPHANET:2311	LFNG	3955	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2311	LFNG	3955	HP:0003298	Spina bifida occulta
ORPHANET:2311	LFNG	3955	HP:0000256	Macrocephaly
ORPHANET:2311	LFNG	3955	HP:0005280	Depressed nasal bridge
ORPHANET:2311	LFNG	3955	HP:0000269	Prominent occiput
ORPHANET:2311	LFNG	3955	HP:0000069	Abnormality of the ureter
ORPHANET:2311	LFNG	3955	HP:0000772	Abnormality of the ribs
ORPHANET:2311	LFNG	3955	HP:0010978	Abnormality of immune system physiology
ORPHANET:2311	LFNG	3955	HP:0000337	Broad forehead
ORPHANET:2311	LFNG	3955	HP:0003422	Vertebral segmentation defect
ORPHANET:2311	LFNG	3955	HP:0100589	Urogenital fistula
ORPHANET:2311	LFNG	3955	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2311	LFNG	3955	HP:0000252	Microcephaly
ORPHANET:2311	LFNG	3955	HP:0000470	Short neck
ORPHANET:2311	LFNG	3955	HP:0002093	Respiratory insufficiency
ORPHANET:2311	LFNG	3955	HP:0100543	Cognitive impairment
ORPHANET:2311	LFNG	3955	HP:0000463	Anteverted nares
ORPHANET:2311	LFNG	3955	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:2311	LFNG	3955	HP:0000175	Cleft palate
ORPHANET:2311	LFNG	3955	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2311	LFNG	3955	HP:0002650	Scoliosis
ORPHANET:2311	LFNG	3955	HP:0006101	Finger syndactyly
ORPHANET:2311	LFNG	3955	HP:0002435	Meningocele
ORPHANET:2311	LFNG	3955	HP:0000028	Cryptorchidism
ORPHANET:2311	LFNG	3955	HP:0004322	Short stature
ORPHANET:2311	LFNG	3955	HP:0001537	Umbilical hernia
ORPHANET:2311	LFNG	3955	HP:0100490	Camptodactyly of finger
ORPHANET:2311	LFNG	3955	HP:0000008	Abnormality of female internal genitalia
ORPHANET:2311	LFNG	3955	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2311	LFNG	3955	HP:0000343	Long philtrum
ORPHANET:2311	LFNG	3955	HP:0001511	Intrauterine growth retardation
ORPHANET:2311	LFNG	3955	HP:0002808	Kyphosis
ORPHANET:2311	LFNG	3955	HP:0010306	Short thorax
ORPHANET:2311	HES7	84667	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2311	HES7	84667	HP:0003298	Spina bifida occulta
ORPHANET:2311	HES7	84667	HP:0000256	Macrocephaly
ORPHANET:2311	HES7	84667	HP:0005280	Depressed nasal bridge
ORPHANET:2311	HES7	84667	HP:0000269	Prominent occiput
ORPHANET:2311	HES7	84667	HP:0000069	Abnormality of the ureter
ORPHANET:2311	HES7	84667	HP:0000772	Abnormality of the ribs
ORPHANET:2311	HES7	84667	HP:0010978	Abnormality of immune system physiology
ORPHANET:2311	HES7	84667	HP:0000337	Broad forehead
ORPHANET:2311	HES7	84667	HP:0003422	Vertebral segmentation defect
ORPHANET:2311	HES7	84667	HP:0100589	Urogenital fistula
ORPHANET:2311	HES7	84667	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2311	HES7	84667	HP:0000252	Microcephaly
ORPHANET:2311	HES7	84667	HP:0000470	Short neck
ORPHANET:2311	HES7	84667	HP:0002093	Respiratory insufficiency
ORPHANET:2311	HES7	84667	HP:0100543	Cognitive impairment
ORPHANET:2311	HES7	84667	HP:0000463	Anteverted nares
ORPHANET:2311	HES7	84667	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:2311	HES7	84667	HP:0000175	Cleft palate
ORPHANET:2311	HES7	84667	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2311	HES7	84667	HP:0002650	Scoliosis
ORPHANET:2311	HES7	84667	HP:0006101	Finger syndactyly
ORPHANET:2311	HES7	84667	HP:0002435	Meningocele
ORPHANET:2311	HES7	84667	HP:0000028	Cryptorchidism
ORPHANET:2311	HES7	84667	HP:0004322	Short stature
ORPHANET:2311	HES7	84667	HP:0001537	Umbilical hernia
ORPHANET:2311	HES7	84667	HP:0100490	Camptodactyly of finger
ORPHANET:2311	HES7	84667	HP:0000008	Abnormality of female internal genitalia
ORPHANET:2311	HES7	84667	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2311	HES7	84667	HP:0000343	Long philtrum
ORPHANET:2311	HES7	84667	HP:0001511	Intrauterine growth retardation
ORPHANET:2311	HES7	84667	HP:0002808	Kyphosis
ORPHANET:2311	HES7	84667	HP:0010306	Short thorax
ORPHANET:2311	DLL3	10683	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2311	DLL3	10683	HP:0003298	Spina bifida occulta
ORPHANET:2311	DLL3	10683	HP:0000256	Macrocephaly
ORPHANET:2311	DLL3	10683	HP:0005280	Depressed nasal bridge
ORPHANET:2311	DLL3	10683	HP:0000269	Prominent occiput
ORPHANET:2311	DLL3	10683	HP:0000069	Abnormality of the ureter
ORPHANET:2311	DLL3	10683	HP:0000772	Abnormality of the ribs
ORPHANET:2311	DLL3	10683	HP:0010978	Abnormality of immune system physiology
ORPHANET:2311	DLL3	10683	HP:0000337	Broad forehead
ORPHANET:2311	DLL3	10683	HP:0003422	Vertebral segmentation defect
ORPHANET:2311	DLL3	10683	HP:0100589	Urogenital fistula
ORPHANET:2311	DLL3	10683	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2311	DLL3	10683	HP:0000252	Microcephaly
ORPHANET:2311	DLL3	10683	HP:0000470	Short neck
ORPHANET:2311	DLL3	10683	HP:0002093	Respiratory insufficiency
ORPHANET:2311	DLL3	10683	HP:0100543	Cognitive impairment
ORPHANET:2311	DLL3	10683	HP:0000463	Anteverted nares
ORPHANET:2311	DLL3	10683	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:2311	DLL3	10683	HP:0000175	Cleft palate
ORPHANET:2311	DLL3	10683	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2311	DLL3	10683	HP:0002650	Scoliosis
ORPHANET:2311	DLL3	10683	HP:0006101	Finger syndactyly
ORPHANET:2311	DLL3	10683	HP:0002435	Meningocele
ORPHANET:2311	DLL3	10683	HP:0000028	Cryptorchidism
ORPHANET:2311	DLL3	10683	HP:0004322	Short stature
ORPHANET:2311	DLL3	10683	HP:0001537	Umbilical hernia
ORPHANET:2311	DLL3	10683	HP:0100490	Camptodactyly of finger
ORPHANET:2311	DLL3	10683	HP:0000008	Abnormality of female internal genitalia
ORPHANET:2311	DLL3	10683	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2311	DLL3	10683	HP:0000343	Long philtrum
ORPHANET:2311	DLL3	10683	HP:0001511	Intrauterine growth retardation
ORPHANET:2311	DLL3	10683	HP:0002808	Kyphosis
ORPHANET:2311	DLL3	10683	HP:0010306	Short thorax
ORPHANET:2311	RIPPLY2	134701	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2311	RIPPLY2	134701	HP:0003298	Spina bifida occulta
ORPHANET:2311	RIPPLY2	134701	HP:0000256	Macrocephaly
ORPHANET:2311	RIPPLY2	134701	HP:0005280	Depressed nasal bridge
ORPHANET:2311	RIPPLY2	134701	HP:0000269	Prominent occiput
ORPHANET:2311	RIPPLY2	134701	HP:0000069	Abnormality of the ureter
ORPHANET:2311	RIPPLY2	134701	HP:0000772	Abnormality of the ribs
ORPHANET:2311	RIPPLY2	134701	HP:0010978	Abnormality of immune system physiology
ORPHANET:2311	RIPPLY2	134701	HP:0000337	Broad forehead
ORPHANET:2311	RIPPLY2	134701	HP:0003422	Vertebral segmentation defect
ORPHANET:2311	RIPPLY2	134701	HP:0100589	Urogenital fistula
ORPHANET:2311	RIPPLY2	134701	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2311	RIPPLY2	134701	HP:0000252	Microcephaly
ORPHANET:2311	RIPPLY2	134701	HP:0000470	Short neck
ORPHANET:2311	RIPPLY2	134701	HP:0002093	Respiratory insufficiency
ORPHANET:2311	RIPPLY2	134701	HP:0100543	Cognitive impairment
ORPHANET:2311	RIPPLY2	134701	HP:0000463	Anteverted nares
ORPHANET:2311	RIPPLY2	134701	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:2311	RIPPLY2	134701	HP:0000175	Cleft palate
ORPHANET:2311	RIPPLY2	134701	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2311	RIPPLY2	134701	HP:0002650	Scoliosis
ORPHANET:2311	RIPPLY2	134701	HP:0006101	Finger syndactyly
ORPHANET:2311	RIPPLY2	134701	HP:0002435	Meningocele
ORPHANET:2311	RIPPLY2	134701	HP:0000028	Cryptorchidism
ORPHANET:2311	RIPPLY2	134701	HP:0004322	Short stature
ORPHANET:2311	RIPPLY2	134701	HP:0001537	Umbilical hernia
ORPHANET:2311	RIPPLY2	134701	HP:0100490	Camptodactyly of finger
ORPHANET:2311	RIPPLY2	134701	HP:0000008	Abnormality of female internal genitalia
ORPHANET:2311	RIPPLY2	134701	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2311	RIPPLY2	134701	HP:0000343	Long philtrum
ORPHANET:2311	RIPPLY2	134701	HP:0001511	Intrauterine growth retardation
ORPHANET:2311	RIPPLY2	134701	HP:0002808	Kyphosis
ORPHANET:2311	RIPPLY2	134701	HP:0010306	Short thorax
OMIM:300623	FMR1	2332	HP:0000822	Hypertension
OMIM:300623	FMR1	2332	HP:0003401	Paresthesia
OMIM:300623	FMR1	2332	HP:0000726	Dementia
OMIM:300623	FMR1	2332	HP:0002067	Bradykinesia
OMIM:300623	FMR1	2332	HP:0001423	X-linked dominant inheritance
OMIM:300623	FMR1	2332	HP:0001276	Hypertonia
OMIM:300623	FMR1	2332	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:300623	FMR1	2332	HP:0002376	Developmental regression
OMIM:300623	FMR1	2332	HP:0001324	Muscle weakness
OMIM:300623	FMR1	2332	HP:0003326	Myalgia
OMIM:300623	FMR1	2332	HP:0002066	Gait ataxia
OMIM:300623	FMR1	2332	HP:0001272	Cerebellar atrophy
OMIM:300623	FMR1	2332	HP:0002311	Incoordination
OMIM:300623	FMR1	2332	HP:0003581	Adult onset
OMIM:300623	FMR1	2332	HP:0002354	Memory impairment
OMIM:300623	FMR1	2332	HP:0000298	Mask-like facies
OMIM:300623	FMR1	2332	HP:0000821	Hypothyroidism
OMIM:300623	FMR1	2332	HP:0001300	Parkinsonism
OMIM:300623	FMR1	2332	HP:0002270	Abnormality of the autonomic nervous system
OMIM:300623	FMR1	2332	HP:0008770	Obsessive-compulsive trait
OMIM:300623	FMR1	2332	HP:0001260	Dysarthria
OMIM:300623	FMR1	2332	HP:0002607	Bowel incontinence
OMIM:300623	FMR1	2332	HP:0000639	Nystagmus
OMIM:300623	FMR1	2332	HP:0012211	Abnormal renal physiology
OMIM:300623	FMR1	2332	HP:0000716	Depression
OMIM:300623	FMR1	2332	HP:0002075	Dysdiadochokinesis
OMIM:300623	FMR1	2332	HP:0001310	Dysmetria
OMIM:300623	FMR1	2332	HP:0008872	Feeding difficulties in infancy
OMIM:300623	FMR1	2332	HP:0001265	Hyporeflexia
OMIM:300623	FMR1	2332	HP:0000365	Hearing impairment
OMIM:300623	FMR1	2332	HP:0000020	Urinary incontinence
OMIM:300623	FMR1	2332	HP:0002120	Cerebral cortical atrophy
OMIM:300623	FMR1	2332	HP:0000739	Anxiety
OMIM:610253	EHMT1	79813	HP:0000365	Hearing impairment
OMIM:610253	EHMT1	79813	HP:0001513	Obesity
OMIM:610253	EHMT1	79813	HP:0002205	Recurrent respiratory infections
OMIM:610253	EHMT1	79813	HP:0002167	Neurological speech impairment
OMIM:610253	EHMT1	79813	HP:0002360	Sleep disturbance
OMIM:610253	EHMT1	79813	HP:0000717	Autism
OMIM:610253	EHMT1	79813	HP:0002093	Respiratory insufficiency
OMIM:610253	EHMT1	79813	HP:0000107	Renal cyst
OMIM:610253	EHMT1	79813	HP:0000316	Hypertelorism
OMIM:610253	EHMT1	79813	HP:0000733	Stereotypic behavior
OMIM:610253	EHMT1	79813	HP:0010806	U-Shaped upper lip vermilion
OMIM:610253	EHMT1	79813	HP:0100543	Cognitive impairment
OMIM:610253	EHMT1	79813	HP:0000695	Natal tooth
OMIM:610253	EHMT1	79813	HP:0100790	Hernia
OMIM:610253	EHMT1	79813	HP:0000232	Everted lower lip vermilion
OMIM:610253	EHMT1	79813	HP:0001156	Brachydactyly syndrome
OMIM:610253	EHMT1	79813	HP:0000076	Vesicoureteral reflux
OMIM:610253	EHMT1	79813	HP:0003745	Sporadic
OMIM:610253	EHMT1	79813	HP:0004322	Short stature
OMIM:610253	EHMT1	79813	HP:0000252	Microcephaly
OMIM:610253	EHMT1	79813	HP:0000272	Malar flattening
OMIM:610253	EHMT1	79813	HP:0002786	Tracheobronchomalacia
OMIM:610253	EHMT1	79813	HP:0000248	Brachycephaly
OMIM:610253	EHMT1	79813	HP:0100716	Self-injurious behavior
OMIM:610253	EHMT1	79813	HP:0000337	Broad forehead
OMIM:610253	EHMT1	79813	HP:0002119	Ventriculomegaly
OMIM:610253	EHMT1	79813	HP:0002120	Cerebral cortical atrophy
OMIM:610253	EHMT1	79813	HP:0001629	Ventricular septal defect
OMIM:610253	EHMT1	79813	HP:0001762	Talipes equinovarus
OMIM:610253	EHMT1	79813	HP:0002650	Scoliosis
OMIM:610253	EHMT1	79813	HP:0003196	Short nose
OMIM:610253	EHMT1	79813	HP:0010808	Protruding tongue
OMIM:610253	EHMT1	79813	HP:0000280	Coarse facial features
OMIM:610253	EHMT1	79813	HP:0000463	Anteverted nares
OMIM:610253	EHMT1	79813	HP:0000582	Upslanted palpebral fissure
OMIM:610253	EHMT1	79813	HP:0002607	Bowel incontinence
OMIM:610253	EHMT1	79813	HP:0011675	Arrhythmia
OMIM:610253	EHMT1	79813	HP:0011800	Hypoplasia of midface
OMIM:610253	EHMT1	79813	HP:0001250	Seizures
OMIM:610253	EHMT1	79813	HP:0001646	Abnormality of the aortic valve
OMIM:610253	EHMT1	79813	HP:0002021	Pyloric stenosis
OMIM:610253	EHMT1	79813	HP:0002558	Supernumerary nipple
OMIM:610253	EHMT1	79813	HP:0000684	Delayed eruption of teeth
OMIM:610253	EHMT1	79813	HP:0000722	Obsessive-compulsive behavior
OMIM:610253	EHMT1	79813	HP:0002376	Developmental regression
OMIM:610253	EHMT1	79813	HP:0000054	Micropenis
OMIM:610253	EHMT1	79813	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:610253	EHMT1	79813	HP:0000047	Hypospadias
OMIM:610253	EHMT1	79813	HP:0002553	Highly arched eyebrow
OMIM:610253	EHMT1	79813	HP:0006335	Persistence of primary teeth
OMIM:610253	EHMT1	79813	HP:0000718	Aggressive behavior
OMIM:610253	EHMT1	79813	HP:0001376	Limitation of joint mobility
OMIM:610253	EHMT1	79813	HP:0002020	Gastroesophageal reflux
OMIM:610253	EHMT1	79813	HP:0010864	Intellectual disability, severe
OMIM:610253	EHMT1	79813	HP:0000664	Synophrys
OMIM:610253	EHMT1	79813	HP:0002714	Downturned corners of mouth
OMIM:610253	EHMT1	79813	HP:0000391	Thickened helices
OMIM:610253	EHMT1	79813	HP:0012368	Flat face
OMIM:610253	EHMT1	79813	HP:0010804	Tented upper lip vermilion
OMIM:610253	EHMT1	79813	HP:0000388	Otitis media
OMIM:610253	EHMT1	79813	HP:0004414	Abnormality of the pulmonary artery
OMIM:610253	EHMT1	79813	HP:0000006	Autosomal dominant inheritance
OMIM:610253	EHMT1	79813	HP:0000083	Renal insufficiency
OMIM:610253	EHMT1	79813	HP:0001636	Tetralogy of Fallot
OMIM:610253	EHMT1	79813	HP:0001249	Intellectual disability
OMIM:610253	EHMT1	79813	HP:0002019	Constipation
OMIM:610253	EHMT1	79813	HP:0000741	Apathy
OMIM:610253	EHMT1	79813	HP:0001679	Abnormality of the aorta
OMIM:610253	EHMT1	79813	HP:0000324	Facial asymmetry
OMIM:610253	EHMT1	79813	HP:0000750	Delayed speech and language development
OMIM:610253	EHMT1	79813	HP:0000158	Macroglossia
OMIM:610253	EHMT1	79813	HP:0000303	Mandibular prognathia
OMIM:610253	EHMT1	79813	HP:0000028	Cryptorchidism
OMIM:610253	EHMT1	79813	HP:0001252	Muscular hypotonia
OMIM:610253	EHMT1	79813	HP:0000954	Single transverse palmar crease
OMIM:615222	DYM	54808	HP:0000470	Short neck
OMIM:615222	DYM	54808	HP:0000768	Pectus carinatum
OMIM:615222	DYM	54808	HP:0010743	Short metatarsal
OMIM:615222	DYM	54808	HP:0003521	Disproportionate short-trunk short stature
OMIM:615222	DYM	54808	HP:0001552	Barrel-shaped chest
OMIM:615222	DYM	54808	HP:0001763	Pes planus
OMIM:615222	DYM	54808	HP:0009803	Short phalanx of finger
OMIM:615222	DYM	54808	HP:0000007	Autosomal recessive inheritance
OMIM:615222	DYM	54808	HP:0006009	Broad phalanx
OMIM:615222	DYM	54808	HP:0010049	Short metacarpal
OMIM:615222	DYM	54808	HP:0002857	Genu valgum
OMIM:615222	DYM	54808	HP:0004325	Decreased body weight
OMIM:615222	DYM	54808	HP:0000926	Platyspondyly
OMIM:615222	DYM	54808	HP:0003311	Hypoplasia of the odontoid process
OMIM:615222	RAB33B	83452	HP:0000470	Short neck
OMIM:615222	RAB33B	83452	HP:0000768	Pectus carinatum
OMIM:615222	RAB33B	83452	HP:0010743	Short metatarsal
OMIM:615222	RAB33B	83452	HP:0003521	Disproportionate short-trunk short stature
OMIM:615222	RAB33B	83452	HP:0001552	Barrel-shaped chest
OMIM:615222	RAB33B	83452	HP:0001763	Pes planus
OMIM:615222	RAB33B	83452	HP:0009803	Short phalanx of finger
OMIM:615222	RAB33B	83452	HP:0000007	Autosomal recessive inheritance
OMIM:615222	RAB33B	83452	HP:0006009	Broad phalanx
OMIM:615222	RAB33B	83452	HP:0010049	Short metacarpal
OMIM:615222	RAB33B	83452	HP:0002857	Genu valgum
OMIM:615222	RAB33B	83452	HP:0004325	Decreased body weight
OMIM:615222	RAB33B	83452	HP:0000926	Platyspondyly
OMIM:615222	RAB33B	83452	HP:0003311	Hypoplasia of the odontoid process
OMIM:614167	ZNF644	84146	HP:0000006	Autosomal dominant inheritance
OMIM:614167	ZNF644	84146	HP:0011003	Severe Myopia
OMIM:266265	SLC35C1	55343	HP:0010864	Intellectual disability, severe
OMIM:266265	SLC35C1	55343	HP:0000704	Periodontitis
OMIM:266265	SLC35C1	55343	HP:0001574	Abnormality of the integument
OMIM:266265	SLC35C1	55343	HP:0006887	Intellectual disability, progressive
OMIM:266265	SLC35C1	55343	HP:0002120	Cerebral cortical atrophy
OMIM:266265	SLC35C1	55343	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:266265	SLC35C1	55343	HP:0001250	Seizures
OMIM:266265	SLC35C1	55343	HP:0004322	Short stature
OMIM:266265	SLC35C1	55343	HP:0000007	Autosomal recessive inheritance
OMIM:266265	SLC35C1	55343	HP:0002090	Pneumonia
OMIM:266265	SLC35C1	55343	HP:0001252	Muscular hypotonia
OMIM:266265	SLC35C1	55343	HP:0000388	Otitis media
OMIM:266265	SLC35C1	55343	HP:0000252	Microcephaly
OMIM:605588	LMNA	4000	HP:0001761	Pes cavus
OMIM:605588	LMNA	4000	HP:0002936	Distal sensory impairment
OMIM:605588	LMNA	4000	HP:0009027	Foot dorsiflexor weakness
OMIM:605588	LMNA	4000	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605588	LMNA	4000	HP:0002460	Distal muscle weakness
OMIM:605588	LMNA	4000	HP:0003376	Steppage gait
OMIM:605588	LMNA	4000	HP:0001265	Hyporeflexia
OMIM:605588	LMNA	4000	HP:0002751	Kyphoscoliosis
OMIM:605588	LMNA	4000	HP:0003693	Distal amyotrophy
OMIM:605588	LMNA	4000	HP:0001284	Areflexia
OMIM:605588	LMNA	4000	HP:0003383	Onion bulb formation
OMIM:605588	LMNA	4000	HP:0000007	Autosomal recessive inheritance
OMIM:605588	LMNA	4000	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:605588	LMNA	4000	HP:0003674	Onset
ORPHANET:721	NBEAL2	23218	HP:0000978	Bruising susceptibility
ORPHANET:721	NBEAL2	23218	HP:0001744	Splenomegaly
ORPHANET:721	NBEAL2	23218	HP:0001928	Abnormality of coagulation
ORPHANET:721	NBEAL2	23218	HP:0000421	Epistaxis
ORPHANET:721	NBEAL2	23218	HP:0001873	Thrombocytopenia
ORPHANET:721	NBEAL2	23218	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:721	NBEAL2	23218	HP:0002863	Myelodysplasia
ORPHANET:721	GFI1B	8328	HP:0000978	Bruising susceptibility
ORPHANET:721	GFI1B	8328	HP:0001744	Splenomegaly
ORPHANET:721	GFI1B	8328	HP:0001928	Abnormality of coagulation
ORPHANET:721	GFI1B	8328	HP:0000421	Epistaxis
ORPHANET:721	GFI1B	8328	HP:0001873	Thrombocytopenia
ORPHANET:721	GFI1B	8328	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:721	GFI1B	8328	HP:0002863	Myelodysplasia
OMIM:159900	DRD2	1813	HP:0001337	Tremor
OMIM:159900	DRD2	1813	HP:0003621	Juvenile onset
OMIM:159900	DRD2	1813	HP:0000722	Obsessive-compulsive behavior
OMIM:159900	DRD2	1813	HP:0000716	Depression
OMIM:159900	DRD2	1813	HP:0000006	Autosomal dominant inheritance
OMIM:159900	DRD2	1813	HP:0001336	Myoclonus
OMIM:159900	DRD2	1813	HP:0001252	Muscular hypotonia
OMIM:159900	DRD2	1813	HP:0002356	Writer's cramp
OMIM:159900	DRD2	1813	HP:0000756	Agoraphobia
OMIM:159900	DRD2	1813	HP:0003829	Incomplete penetrance
OMIM:159900	DRD2	1813	HP:0000473	Torticollis
OMIM:159900	DRD2	1813	HP:0000739	Anxiety
OMIM:159900	TOR1A	1861	HP:0001337	Tremor
OMIM:159900	TOR1A	1861	HP:0003621	Juvenile onset
OMIM:159900	TOR1A	1861	HP:0000722	Obsessive-compulsive behavior
OMIM:159900	TOR1A	1861	HP:0000716	Depression
OMIM:159900	TOR1A	1861	HP:0000006	Autosomal dominant inheritance
OMIM:159900	TOR1A	1861	HP:0001336	Myoclonus
OMIM:159900	TOR1A	1861	HP:0001252	Muscular hypotonia
OMIM:159900	TOR1A	1861	HP:0002356	Writer's cramp
OMIM:159900	TOR1A	1861	HP:0000756	Agoraphobia
OMIM:159900	TOR1A	1861	HP:0003829	Incomplete penetrance
OMIM:159900	TOR1A	1861	HP:0000473	Torticollis
OMIM:159900	TOR1A	1861	HP:0000739	Anxiety
OMIM:159900	SGCE	8910	HP:0001337	Tremor
OMIM:159900	SGCE	8910	HP:0003621	Juvenile onset
OMIM:159900	SGCE	8910	HP:0000722	Obsessive-compulsive behavior
OMIM:159900	SGCE	8910	HP:0000716	Depression
OMIM:159900	SGCE	8910	HP:0000006	Autosomal dominant inheritance
OMIM:159900	SGCE	8910	HP:0001336	Myoclonus
OMIM:159900	SGCE	8910	HP:0001252	Muscular hypotonia
OMIM:159900	SGCE	8910	HP:0002356	Writer's cramp
OMIM:159900	SGCE	8910	HP:0000756	Agoraphobia
OMIM:159900	SGCE	8910	HP:0003829	Incomplete penetrance
OMIM:159900	SGCE	8910	HP:0000473	Torticollis
OMIM:159900	SGCE	8910	HP:0000739	Anxiety
OMIM:236670	B4GAT1	11041	HP:0001105	Retinal atrophy
OMIM:236670	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
OMIM:236670	B4GAT1	11041	HP:0000541	Retinal detachment
OMIM:236670	B4GAT1	11041	HP:0001425	Heterogeneous
OMIM:236670	B4GAT1	11041	HP:0007957	Corneal opacity
OMIM:236670	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:236670	B4GAT1	11041	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	B4GAT1	11041	HP:0000175	Cleft palate
OMIM:236670	B4GAT1	11041	HP:0007291	Posterior fossa cyst
OMIM:236670	B4GAT1	11041	HP:0002803	Congenital contracture
OMIM:236670	B4GAT1	11041	HP:0002187	Intellectual disability, profound
OMIM:236670	B4GAT1	11041	HP:0006829	Severe muscular hypotonia
OMIM:236670	B4GAT1	11041	HP:0000204	Cleft upper lip
OMIM:236670	B4GAT1	11041	HP:0000609	Optic nerve hypoplasia
OMIM:236670	B4GAT1	11041	HP:0000618	Blindness
OMIM:236670	B4GAT1	11041	HP:0001250	Seizures
OMIM:236670	B4GAT1	11041	HP:0000518	Cataract
OMIM:236670	B4GAT1	11041	HP:0000568	Microphthalmia
OMIM:236670	B4GAT1	11041	HP:0000659	Peters anomaly
OMIM:236670	B4GAT1	11041	HP:0000413	Atresia of the external auditory canal
OMIM:236670	B4GAT1	11041	HP:0001263	Global developmental delay
OMIM:236670	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:236670	B4GAT1	11041	HP:0000485	Megalocornea
OMIM:236670	B4GAT1	11041	HP:0001305	Dandy-Walker malformation
OMIM:236670	B4GAT1	11041	HP:0001302	Pachygyria
OMIM:236670	B4GAT1	11041	HP:0007033	Cerebellar dysplasia
OMIM:236670	B4GAT1	11041	HP:0010864	Intellectual disability, severe
OMIM:236670	B4GAT1	11041	HP:0002085	Occipital encephalocele
OMIM:236670	B4GAT1	11041	HP:0002189	Excessive daytime sleepiness
OMIM:236670	B4GAT1	11041	HP:0000557	Buphthalmos
OMIM:236670	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	B4GAT1	11041	HP:0003741	Congenital muscular dystrophy
OMIM:236670	B4GAT1	11041	HP:0000545	Myopia
OMIM:236670	B4GAT1	11041	HP:0007973	Retinal dysplasia
OMIM:236670	B4GAT1	11041	HP:0006888	Meningoencephalocele
OMIM:236670	B4GAT1	11041	HP:0000252	Microcephaly
OMIM:236670	B4GAT1	11041	HP:0002023	Anal atresia
OMIM:236670	B4GAT1	11041	HP:0006891	Thick cerebral cortex
OMIM:236670	B4GAT1	11041	HP:0001274	Agenesis of corpus callosum
OMIM:236670	B4GAT1	11041	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	B4GAT1	11041	HP:0000110	Renal dysplasia
OMIM:236670	B4GAT1	11041	HP:0000589	Coloboma
OMIM:236670	B4GAT1	11041	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	B4GAT1	11041	HP:0008551	Microtia
OMIM:236670	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:236670	B4GAT1	11041	HP:0002126	Polymicrogyria
OMIM:236670	POMT2	29954	HP:0001105	Retinal atrophy
OMIM:236670	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:236670	POMT2	29954	HP:0000541	Retinal detachment
OMIM:236670	POMT2	29954	HP:0001425	Heterogeneous
OMIM:236670	POMT2	29954	HP:0007957	Corneal opacity
OMIM:236670	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:236670	POMT2	29954	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	POMT2	29954	HP:0000175	Cleft palate
OMIM:236670	POMT2	29954	HP:0007291	Posterior fossa cyst
OMIM:236670	POMT2	29954	HP:0002803	Congenital contracture
OMIM:236670	POMT2	29954	HP:0002187	Intellectual disability, profound
OMIM:236670	POMT2	29954	HP:0006829	Severe muscular hypotonia
OMIM:236670	POMT2	29954	HP:0000204	Cleft upper lip
OMIM:236670	POMT2	29954	HP:0000609	Optic nerve hypoplasia
OMIM:236670	POMT2	29954	HP:0000618	Blindness
OMIM:236670	POMT2	29954	HP:0001250	Seizures
OMIM:236670	POMT2	29954	HP:0000518	Cataract
OMIM:236670	POMT2	29954	HP:0000568	Microphthalmia
OMIM:236670	POMT2	29954	HP:0000659	Peters anomaly
OMIM:236670	POMT2	29954	HP:0000413	Atresia of the external auditory canal
OMIM:236670	POMT2	29954	HP:0001263	Global developmental delay
OMIM:236670	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:236670	POMT2	29954	HP:0000485	Megalocornea
OMIM:236670	POMT2	29954	HP:0001305	Dandy-Walker malformation
OMIM:236670	POMT2	29954	HP:0001302	Pachygyria
OMIM:236670	POMT2	29954	HP:0007033	Cerebellar dysplasia
OMIM:236670	POMT2	29954	HP:0010864	Intellectual disability, severe
OMIM:236670	POMT2	29954	HP:0002085	Occipital encephalocele
OMIM:236670	POMT2	29954	HP:0002189	Excessive daytime sleepiness
OMIM:236670	POMT2	29954	HP:0000557	Buphthalmos
OMIM:236670	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	POMT2	29954	HP:0003741	Congenital muscular dystrophy
OMIM:236670	POMT2	29954	HP:0000545	Myopia
OMIM:236670	POMT2	29954	HP:0007973	Retinal dysplasia
OMIM:236670	POMT2	29954	HP:0006888	Meningoencephalocele
OMIM:236670	POMT2	29954	HP:0000252	Microcephaly
OMIM:236670	POMT2	29954	HP:0002023	Anal atresia
OMIM:236670	POMT2	29954	HP:0006891	Thick cerebral cortex
OMIM:236670	POMT2	29954	HP:0001274	Agenesis of corpus callosum
OMIM:236670	POMT2	29954	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	POMT2	29954	HP:0000110	Renal dysplasia
OMIM:236670	POMT2	29954	HP:0000589	Coloboma
OMIM:236670	POMT2	29954	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	POMT2	29954	HP:0008551	Microtia
OMIM:236670	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:236670	POMT2	29954	HP:0002126	Polymicrogyria
OMIM:236670	COL4A1	1282	HP:0001105	Retinal atrophy
OMIM:236670	COL4A1	1282	HP:0001321	Cerebellar hypoplasia
OMIM:236670	COL4A1	1282	HP:0000541	Retinal detachment
OMIM:236670	COL4A1	1282	HP:0001425	Heterogeneous
OMIM:236670	COL4A1	1282	HP:0007957	Corneal opacity
OMIM:236670	COL4A1	1282	HP:0000007	Autosomal recessive inheritance
OMIM:236670	COL4A1	1282	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	COL4A1	1282	HP:0000175	Cleft palate
OMIM:236670	COL4A1	1282	HP:0007291	Posterior fossa cyst
OMIM:236670	COL4A1	1282	HP:0002803	Congenital contracture
OMIM:236670	COL4A1	1282	HP:0002187	Intellectual disability, profound
OMIM:236670	COL4A1	1282	HP:0006829	Severe muscular hypotonia
OMIM:236670	COL4A1	1282	HP:0000204	Cleft upper lip
OMIM:236670	COL4A1	1282	HP:0000609	Optic nerve hypoplasia
OMIM:236670	COL4A1	1282	HP:0000618	Blindness
OMIM:236670	COL4A1	1282	HP:0001250	Seizures
OMIM:236670	COL4A1	1282	HP:0000518	Cataract
OMIM:236670	COL4A1	1282	HP:0000568	Microphthalmia
OMIM:236670	COL4A1	1282	HP:0000659	Peters anomaly
OMIM:236670	COL4A1	1282	HP:0000413	Atresia of the external auditory canal
OMIM:236670	COL4A1	1282	HP:0001263	Global developmental delay
OMIM:236670	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:236670	COL4A1	1282	HP:0000485	Megalocornea
OMIM:236670	COL4A1	1282	HP:0001305	Dandy-Walker malformation
OMIM:236670	COL4A1	1282	HP:0001302	Pachygyria
OMIM:236670	COL4A1	1282	HP:0007033	Cerebellar dysplasia
OMIM:236670	COL4A1	1282	HP:0010864	Intellectual disability, severe
OMIM:236670	COL4A1	1282	HP:0002085	Occipital encephalocele
OMIM:236670	COL4A1	1282	HP:0002189	Excessive daytime sleepiness
OMIM:236670	COL4A1	1282	HP:0000557	Buphthalmos
OMIM:236670	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	COL4A1	1282	HP:0003741	Congenital muscular dystrophy
OMIM:236670	COL4A1	1282	HP:0000545	Myopia
OMIM:236670	COL4A1	1282	HP:0007973	Retinal dysplasia
OMIM:236670	COL4A1	1282	HP:0006888	Meningoencephalocele
OMIM:236670	COL4A1	1282	HP:0000252	Microcephaly
OMIM:236670	COL4A1	1282	HP:0002023	Anal atresia
OMIM:236670	COL4A1	1282	HP:0006891	Thick cerebral cortex
OMIM:236670	COL4A1	1282	HP:0001274	Agenesis of corpus callosum
OMIM:236670	COL4A1	1282	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	COL4A1	1282	HP:0000110	Renal dysplasia
OMIM:236670	COL4A1	1282	HP:0000589	Coloboma
OMIM:236670	COL4A1	1282	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	COL4A1	1282	HP:0008551	Microtia
OMIM:236670	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:236670	COL4A1	1282	HP:0002126	Polymicrogyria
OMIM:236670	POMK	84197	HP:0001105	Retinal atrophy
OMIM:236670	POMK	84197	HP:0001321	Cerebellar hypoplasia
OMIM:236670	POMK	84197	HP:0000541	Retinal detachment
OMIM:236670	POMK	84197	HP:0001425	Heterogeneous
OMIM:236670	POMK	84197	HP:0007957	Corneal opacity
OMIM:236670	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:236670	POMK	84197	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	POMK	84197	HP:0000175	Cleft palate
OMIM:236670	POMK	84197	HP:0007291	Posterior fossa cyst
OMIM:236670	POMK	84197	HP:0002803	Congenital contracture
OMIM:236670	POMK	84197	HP:0002187	Intellectual disability, profound
OMIM:236670	POMK	84197	HP:0006829	Severe muscular hypotonia
OMIM:236670	POMK	84197	HP:0000204	Cleft upper lip
OMIM:236670	POMK	84197	HP:0000609	Optic nerve hypoplasia
OMIM:236670	POMK	84197	HP:0000618	Blindness
OMIM:236670	POMK	84197	HP:0001250	Seizures
OMIM:236670	POMK	84197	HP:0000518	Cataract
OMIM:236670	POMK	84197	HP:0000568	Microphthalmia
OMIM:236670	POMK	84197	HP:0000659	Peters anomaly
OMIM:236670	POMK	84197	HP:0000413	Atresia of the external auditory canal
OMIM:236670	POMK	84197	HP:0001263	Global developmental delay
OMIM:236670	POMK	84197	HP:0000238	Hydrocephalus
OMIM:236670	POMK	84197	HP:0000485	Megalocornea
OMIM:236670	POMK	84197	HP:0001305	Dandy-Walker malformation
OMIM:236670	POMK	84197	HP:0001302	Pachygyria
OMIM:236670	POMK	84197	HP:0007033	Cerebellar dysplasia
OMIM:236670	POMK	84197	HP:0010864	Intellectual disability, severe
OMIM:236670	POMK	84197	HP:0002085	Occipital encephalocele
OMIM:236670	POMK	84197	HP:0002189	Excessive daytime sleepiness
OMIM:236670	POMK	84197	HP:0000557	Buphthalmos
OMIM:236670	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	POMK	84197	HP:0003741	Congenital muscular dystrophy
OMIM:236670	POMK	84197	HP:0000545	Myopia
OMIM:236670	POMK	84197	HP:0007973	Retinal dysplasia
OMIM:236670	POMK	84197	HP:0006888	Meningoencephalocele
OMIM:236670	POMK	84197	HP:0000252	Microcephaly
OMIM:236670	POMK	84197	HP:0002023	Anal atresia
OMIM:236670	POMK	84197	HP:0006891	Thick cerebral cortex
OMIM:236670	POMK	84197	HP:0001274	Agenesis of corpus callosum
OMIM:236670	POMK	84197	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	POMK	84197	HP:0000110	Renal dysplasia
OMIM:236670	POMK	84197	HP:0000589	Coloboma
OMIM:236670	POMK	84197	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	POMK	84197	HP:0008551	Microtia
OMIM:236670	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:236670	POMK	84197	HP:0002126	Polymicrogyria
OMIM:236670	GMPPB	29925	HP:0001105	Retinal atrophy
OMIM:236670	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:236670	GMPPB	29925	HP:0000541	Retinal detachment
OMIM:236670	GMPPB	29925	HP:0001425	Heterogeneous
OMIM:236670	GMPPB	29925	HP:0007957	Corneal opacity
OMIM:236670	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:236670	GMPPB	29925	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	GMPPB	29925	HP:0000175	Cleft palate
OMIM:236670	GMPPB	29925	HP:0007291	Posterior fossa cyst
OMIM:236670	GMPPB	29925	HP:0002803	Congenital contracture
OMIM:236670	GMPPB	29925	HP:0002187	Intellectual disability, profound
OMIM:236670	GMPPB	29925	HP:0006829	Severe muscular hypotonia
OMIM:236670	GMPPB	29925	HP:0000204	Cleft upper lip
OMIM:236670	GMPPB	29925	HP:0000609	Optic nerve hypoplasia
OMIM:236670	GMPPB	29925	HP:0000618	Blindness
OMIM:236670	GMPPB	29925	HP:0001250	Seizures
OMIM:236670	GMPPB	29925	HP:0000518	Cataract
OMIM:236670	GMPPB	29925	HP:0000568	Microphthalmia
OMIM:236670	GMPPB	29925	HP:0000659	Peters anomaly
OMIM:236670	GMPPB	29925	HP:0000413	Atresia of the external auditory canal
OMIM:236670	GMPPB	29925	HP:0001263	Global developmental delay
OMIM:236670	GMPPB	29925	HP:0000238	Hydrocephalus
OMIM:236670	GMPPB	29925	HP:0000485	Megalocornea
OMIM:236670	GMPPB	29925	HP:0001305	Dandy-Walker malformation
OMIM:236670	GMPPB	29925	HP:0001302	Pachygyria
OMIM:236670	GMPPB	29925	HP:0007033	Cerebellar dysplasia
OMIM:236670	GMPPB	29925	HP:0010864	Intellectual disability, severe
OMIM:236670	GMPPB	29925	HP:0002085	Occipital encephalocele
OMIM:236670	GMPPB	29925	HP:0002189	Excessive daytime sleepiness
OMIM:236670	GMPPB	29925	HP:0000557	Buphthalmos
OMIM:236670	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	GMPPB	29925	HP:0003741	Congenital muscular dystrophy
OMIM:236670	GMPPB	29925	HP:0000545	Myopia
OMIM:236670	GMPPB	29925	HP:0007973	Retinal dysplasia
OMIM:236670	GMPPB	29925	HP:0006888	Meningoencephalocele
OMIM:236670	GMPPB	29925	HP:0000252	Microcephaly
OMIM:236670	GMPPB	29925	HP:0002023	Anal atresia
OMIM:236670	GMPPB	29925	HP:0006891	Thick cerebral cortex
OMIM:236670	GMPPB	29925	HP:0001274	Agenesis of corpus callosum
OMIM:236670	GMPPB	29925	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	GMPPB	29925	HP:0000110	Renal dysplasia
OMIM:236670	GMPPB	29925	HP:0000589	Coloboma
OMIM:236670	GMPPB	29925	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	GMPPB	29925	HP:0008551	Microtia
OMIM:236670	GMPPB	29925	HP:0007260	Type II lissencephaly
OMIM:236670	GMPPB	29925	HP:0002126	Polymicrogyria
OMIM:236670	DAG1	1605	HP:0001105	Retinal atrophy
OMIM:236670	DAG1	1605	HP:0001321	Cerebellar hypoplasia
OMIM:236670	DAG1	1605	HP:0000541	Retinal detachment
OMIM:236670	DAG1	1605	HP:0001425	Heterogeneous
OMIM:236670	DAG1	1605	HP:0007957	Corneal opacity
OMIM:236670	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:236670	DAG1	1605	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	DAG1	1605	HP:0000175	Cleft palate
OMIM:236670	DAG1	1605	HP:0007291	Posterior fossa cyst
OMIM:236670	DAG1	1605	HP:0002803	Congenital contracture
OMIM:236670	DAG1	1605	HP:0002187	Intellectual disability, profound
OMIM:236670	DAG1	1605	HP:0006829	Severe muscular hypotonia
OMIM:236670	DAG1	1605	HP:0000204	Cleft upper lip
OMIM:236670	DAG1	1605	HP:0000609	Optic nerve hypoplasia
OMIM:236670	DAG1	1605	HP:0000618	Blindness
OMIM:236670	DAG1	1605	HP:0001250	Seizures
OMIM:236670	DAG1	1605	HP:0000518	Cataract
OMIM:236670	DAG1	1605	HP:0000568	Microphthalmia
OMIM:236670	DAG1	1605	HP:0000659	Peters anomaly
OMIM:236670	DAG1	1605	HP:0000413	Atresia of the external auditory canal
OMIM:236670	DAG1	1605	HP:0001263	Global developmental delay
OMIM:236670	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:236670	DAG1	1605	HP:0000485	Megalocornea
OMIM:236670	DAG1	1605	HP:0001305	Dandy-Walker malformation
OMIM:236670	DAG1	1605	HP:0001302	Pachygyria
OMIM:236670	DAG1	1605	HP:0007033	Cerebellar dysplasia
OMIM:236670	DAG1	1605	HP:0010864	Intellectual disability, severe
OMIM:236670	DAG1	1605	HP:0002085	Occipital encephalocele
OMIM:236670	DAG1	1605	HP:0002189	Excessive daytime sleepiness
OMIM:236670	DAG1	1605	HP:0000557	Buphthalmos
OMIM:236670	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	DAG1	1605	HP:0003741	Congenital muscular dystrophy
OMIM:236670	DAG1	1605	HP:0000545	Myopia
OMIM:236670	DAG1	1605	HP:0007973	Retinal dysplasia
OMIM:236670	DAG1	1605	HP:0006888	Meningoencephalocele
OMIM:236670	DAG1	1605	HP:0000252	Microcephaly
OMIM:236670	DAG1	1605	HP:0002023	Anal atresia
OMIM:236670	DAG1	1605	HP:0006891	Thick cerebral cortex
OMIM:236670	DAG1	1605	HP:0001274	Agenesis of corpus callosum
OMIM:236670	DAG1	1605	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	DAG1	1605	HP:0000110	Renal dysplasia
OMIM:236670	DAG1	1605	HP:0000589	Coloboma
OMIM:236670	DAG1	1605	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	DAG1	1605	HP:0008551	Microtia
OMIM:236670	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:236670	DAG1	1605	HP:0002126	Polymicrogyria
OMIM:236670	POMGNT1	55624	HP:0001105	Retinal atrophy
OMIM:236670	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:236670	POMGNT1	55624	HP:0000541	Retinal detachment
OMIM:236670	POMGNT1	55624	HP:0001425	Heterogeneous
OMIM:236670	POMGNT1	55624	HP:0007957	Corneal opacity
OMIM:236670	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:236670	POMGNT1	55624	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	POMGNT1	55624	HP:0000175	Cleft palate
OMIM:236670	POMGNT1	55624	HP:0007291	Posterior fossa cyst
OMIM:236670	POMGNT1	55624	HP:0002803	Congenital contracture
OMIM:236670	POMGNT1	55624	HP:0002187	Intellectual disability, profound
OMIM:236670	POMGNT1	55624	HP:0006829	Severe muscular hypotonia
OMIM:236670	POMGNT1	55624	HP:0000204	Cleft upper lip
OMIM:236670	POMGNT1	55624	HP:0000609	Optic nerve hypoplasia
OMIM:236670	POMGNT1	55624	HP:0000618	Blindness
OMIM:236670	POMGNT1	55624	HP:0001250	Seizures
OMIM:236670	POMGNT1	55624	HP:0000518	Cataract
OMIM:236670	POMGNT1	55624	HP:0000568	Microphthalmia
OMIM:236670	POMGNT1	55624	HP:0000659	Peters anomaly
OMIM:236670	POMGNT1	55624	HP:0000413	Atresia of the external auditory canal
OMIM:236670	POMGNT1	55624	HP:0001263	Global developmental delay
OMIM:236670	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:236670	POMGNT1	55624	HP:0000485	Megalocornea
OMIM:236670	POMGNT1	55624	HP:0001305	Dandy-Walker malformation
OMIM:236670	POMGNT1	55624	HP:0001302	Pachygyria
OMIM:236670	POMGNT1	55624	HP:0007033	Cerebellar dysplasia
OMIM:236670	POMGNT1	55624	HP:0010864	Intellectual disability, severe
OMIM:236670	POMGNT1	55624	HP:0002085	Occipital encephalocele
OMIM:236670	POMGNT1	55624	HP:0002189	Excessive daytime sleepiness
OMIM:236670	POMGNT1	55624	HP:0000557	Buphthalmos
OMIM:236670	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	POMGNT1	55624	HP:0003741	Congenital muscular dystrophy
OMIM:236670	POMGNT1	55624	HP:0000545	Myopia
OMIM:236670	POMGNT1	55624	HP:0007973	Retinal dysplasia
OMIM:236670	POMGNT1	55624	HP:0006888	Meningoencephalocele
OMIM:236670	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:236670	POMGNT1	55624	HP:0002023	Anal atresia
OMIM:236670	POMGNT1	55624	HP:0006891	Thick cerebral cortex
OMIM:236670	POMGNT1	55624	HP:0001274	Agenesis of corpus callosum
OMIM:236670	POMGNT1	55624	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	POMGNT1	55624	HP:0000110	Renal dysplasia
OMIM:236670	POMGNT1	55624	HP:0000589	Coloboma
OMIM:236670	POMGNT1	55624	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	POMGNT1	55624	HP:0008551	Microtia
OMIM:236670	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:236670	POMGNT1	55624	HP:0002126	Polymicrogyria
OMIM:236670	FKTN	2218	HP:0001105	Retinal atrophy
OMIM:236670	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:236670	FKTN	2218	HP:0000541	Retinal detachment
OMIM:236670	FKTN	2218	HP:0001425	Heterogeneous
OMIM:236670	FKTN	2218	HP:0007957	Corneal opacity
OMIM:236670	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:236670	FKTN	2218	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	FKTN	2218	HP:0000175	Cleft palate
OMIM:236670	FKTN	2218	HP:0007291	Posterior fossa cyst
OMIM:236670	FKTN	2218	HP:0002803	Congenital contracture
OMIM:236670	FKTN	2218	HP:0002187	Intellectual disability, profound
OMIM:236670	FKTN	2218	HP:0006829	Severe muscular hypotonia
OMIM:236670	FKTN	2218	HP:0000204	Cleft upper lip
OMIM:236670	FKTN	2218	HP:0000609	Optic nerve hypoplasia
OMIM:236670	FKTN	2218	HP:0000618	Blindness
OMIM:236670	FKTN	2218	HP:0001250	Seizures
OMIM:236670	FKTN	2218	HP:0000518	Cataract
OMIM:236670	FKTN	2218	HP:0000568	Microphthalmia
OMIM:236670	FKTN	2218	HP:0000659	Peters anomaly
OMIM:236670	FKTN	2218	HP:0000413	Atresia of the external auditory canal
OMIM:236670	FKTN	2218	HP:0001263	Global developmental delay
OMIM:236670	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:236670	FKTN	2218	HP:0000485	Megalocornea
OMIM:236670	FKTN	2218	HP:0001305	Dandy-Walker malformation
OMIM:236670	FKTN	2218	HP:0001302	Pachygyria
OMIM:236670	FKTN	2218	HP:0007033	Cerebellar dysplasia
OMIM:236670	FKTN	2218	HP:0010864	Intellectual disability, severe
OMIM:236670	FKTN	2218	HP:0002085	Occipital encephalocele
OMIM:236670	FKTN	2218	HP:0002189	Excessive daytime sleepiness
OMIM:236670	FKTN	2218	HP:0000557	Buphthalmos
OMIM:236670	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	FKTN	2218	HP:0003741	Congenital muscular dystrophy
OMIM:236670	FKTN	2218	HP:0000545	Myopia
OMIM:236670	FKTN	2218	HP:0007973	Retinal dysplasia
OMIM:236670	FKTN	2218	HP:0006888	Meningoencephalocele
OMIM:236670	FKTN	2218	HP:0000252	Microcephaly
OMIM:236670	FKTN	2218	HP:0002023	Anal atresia
OMIM:236670	FKTN	2218	HP:0006891	Thick cerebral cortex
OMIM:236670	FKTN	2218	HP:0001274	Agenesis of corpus callosum
OMIM:236670	FKTN	2218	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	FKTN	2218	HP:0000110	Renal dysplasia
OMIM:236670	FKTN	2218	HP:0000589	Coloboma
OMIM:236670	FKTN	2218	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	FKTN	2218	HP:0008551	Microtia
OMIM:236670	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:236670	FKTN	2218	HP:0002126	Polymicrogyria
OMIM:236670	FKRP	79147	HP:0001105	Retinal atrophy
OMIM:236670	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:236670	FKRP	79147	HP:0000541	Retinal detachment
OMIM:236670	FKRP	79147	HP:0001425	Heterogeneous
OMIM:236670	FKRP	79147	HP:0007957	Corneal opacity
OMIM:236670	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:236670	FKRP	79147	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	FKRP	79147	HP:0000175	Cleft palate
OMIM:236670	FKRP	79147	HP:0007291	Posterior fossa cyst
OMIM:236670	FKRP	79147	HP:0002803	Congenital contracture
OMIM:236670	FKRP	79147	HP:0002187	Intellectual disability, profound
OMIM:236670	FKRP	79147	HP:0006829	Severe muscular hypotonia
OMIM:236670	FKRP	79147	HP:0000204	Cleft upper lip
OMIM:236670	FKRP	79147	HP:0000609	Optic nerve hypoplasia
OMIM:236670	FKRP	79147	HP:0000618	Blindness
OMIM:236670	FKRP	79147	HP:0001250	Seizures
OMIM:236670	FKRP	79147	HP:0000518	Cataract
OMIM:236670	FKRP	79147	HP:0000568	Microphthalmia
OMIM:236670	FKRP	79147	HP:0000659	Peters anomaly
OMIM:236670	FKRP	79147	HP:0000413	Atresia of the external auditory canal
OMIM:236670	FKRP	79147	HP:0001263	Global developmental delay
OMIM:236670	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:236670	FKRP	79147	HP:0000485	Megalocornea
OMIM:236670	FKRP	79147	HP:0001305	Dandy-Walker malformation
OMIM:236670	FKRP	79147	HP:0001302	Pachygyria
OMIM:236670	FKRP	79147	HP:0007033	Cerebellar dysplasia
OMIM:236670	FKRP	79147	HP:0010864	Intellectual disability, severe
OMIM:236670	FKRP	79147	HP:0002085	Occipital encephalocele
OMIM:236670	FKRP	79147	HP:0002189	Excessive daytime sleepiness
OMIM:236670	FKRP	79147	HP:0000557	Buphthalmos
OMIM:236670	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:236670	FKRP	79147	HP:0000545	Myopia
OMIM:236670	FKRP	79147	HP:0007973	Retinal dysplasia
OMIM:236670	FKRP	79147	HP:0006888	Meningoencephalocele
OMIM:236670	FKRP	79147	HP:0000252	Microcephaly
OMIM:236670	FKRP	79147	HP:0002023	Anal atresia
OMIM:236670	FKRP	79147	HP:0006891	Thick cerebral cortex
OMIM:236670	FKRP	79147	HP:0001274	Agenesis of corpus callosum
OMIM:236670	FKRP	79147	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	FKRP	79147	HP:0000110	Renal dysplasia
OMIM:236670	FKRP	79147	HP:0000589	Coloboma
OMIM:236670	FKRP	79147	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	FKRP	79147	HP:0008551	Microtia
OMIM:236670	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:236670	FKRP	79147	HP:0002126	Polymicrogyria
OMIM:236670	ISPD	729920	HP:0001105	Retinal atrophy
OMIM:236670	ISPD	729920	HP:0001321	Cerebellar hypoplasia
OMIM:236670	ISPD	729920	HP:0000541	Retinal detachment
OMIM:236670	ISPD	729920	HP:0001425	Heterogeneous
OMIM:236670	ISPD	729920	HP:0007957	Corneal opacity
OMIM:236670	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:236670	ISPD	729920	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	ISPD	729920	HP:0000175	Cleft palate
OMIM:236670	ISPD	729920	HP:0007291	Posterior fossa cyst
OMIM:236670	ISPD	729920	HP:0002803	Congenital contracture
OMIM:236670	ISPD	729920	HP:0002187	Intellectual disability, profound
OMIM:236670	ISPD	729920	HP:0006829	Severe muscular hypotonia
OMIM:236670	ISPD	729920	HP:0000204	Cleft upper lip
OMIM:236670	ISPD	729920	HP:0000609	Optic nerve hypoplasia
OMIM:236670	ISPD	729920	HP:0000618	Blindness
OMIM:236670	ISPD	729920	HP:0001250	Seizures
OMIM:236670	ISPD	729920	HP:0000518	Cataract
OMIM:236670	ISPD	729920	HP:0000568	Microphthalmia
OMIM:236670	ISPD	729920	HP:0000659	Peters anomaly
OMIM:236670	ISPD	729920	HP:0000413	Atresia of the external auditory canal
OMIM:236670	ISPD	729920	HP:0001263	Global developmental delay
OMIM:236670	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:236670	ISPD	729920	HP:0000485	Megalocornea
OMIM:236670	ISPD	729920	HP:0001305	Dandy-Walker malformation
OMIM:236670	ISPD	729920	HP:0001302	Pachygyria
OMIM:236670	ISPD	729920	HP:0007033	Cerebellar dysplasia
OMIM:236670	ISPD	729920	HP:0010864	Intellectual disability, severe
OMIM:236670	ISPD	729920	HP:0002085	Occipital encephalocele
OMIM:236670	ISPD	729920	HP:0002189	Excessive daytime sleepiness
OMIM:236670	ISPD	729920	HP:0000557	Buphthalmos
OMIM:236670	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	ISPD	729920	HP:0003741	Congenital muscular dystrophy
OMIM:236670	ISPD	729920	HP:0000545	Myopia
OMIM:236670	ISPD	729920	HP:0007973	Retinal dysplasia
OMIM:236670	ISPD	729920	HP:0006888	Meningoencephalocele
OMIM:236670	ISPD	729920	HP:0000252	Microcephaly
OMIM:236670	ISPD	729920	HP:0002023	Anal atresia
OMIM:236670	ISPD	729920	HP:0006891	Thick cerebral cortex
OMIM:236670	ISPD	729920	HP:0001274	Agenesis of corpus callosum
OMIM:236670	ISPD	729920	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	ISPD	729920	HP:0000110	Renal dysplasia
OMIM:236670	ISPD	729920	HP:0000589	Coloboma
OMIM:236670	ISPD	729920	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	ISPD	729920	HP:0008551	Microtia
OMIM:236670	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:236670	ISPD	729920	HP:0002126	Polymicrogyria
OMIM:236670	B3GALNT2	148789	HP:0001105	Retinal atrophy
OMIM:236670	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:236670	B3GALNT2	148789	HP:0000541	Retinal detachment
OMIM:236670	B3GALNT2	148789	HP:0001425	Heterogeneous
OMIM:236670	B3GALNT2	148789	HP:0007957	Corneal opacity
OMIM:236670	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:236670	B3GALNT2	148789	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	B3GALNT2	148789	HP:0000175	Cleft palate
OMIM:236670	B3GALNT2	148789	HP:0007291	Posterior fossa cyst
OMIM:236670	B3GALNT2	148789	HP:0002803	Congenital contracture
OMIM:236670	B3GALNT2	148789	HP:0002187	Intellectual disability, profound
OMIM:236670	B3GALNT2	148789	HP:0006829	Severe muscular hypotonia
OMIM:236670	B3GALNT2	148789	HP:0000204	Cleft upper lip
OMIM:236670	B3GALNT2	148789	HP:0000609	Optic nerve hypoplasia
OMIM:236670	B3GALNT2	148789	HP:0000618	Blindness
OMIM:236670	B3GALNT2	148789	HP:0001250	Seizures
OMIM:236670	B3GALNT2	148789	HP:0000518	Cataract
OMIM:236670	B3GALNT2	148789	HP:0000568	Microphthalmia
OMIM:236670	B3GALNT2	148789	HP:0000659	Peters anomaly
OMIM:236670	B3GALNT2	148789	HP:0000413	Atresia of the external auditory canal
OMIM:236670	B3GALNT2	148789	HP:0001263	Global developmental delay
OMIM:236670	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:236670	B3GALNT2	148789	HP:0000485	Megalocornea
OMIM:236670	B3GALNT2	148789	HP:0001305	Dandy-Walker malformation
OMIM:236670	B3GALNT2	148789	HP:0001302	Pachygyria
OMIM:236670	B3GALNT2	148789	HP:0007033	Cerebellar dysplasia
OMIM:236670	B3GALNT2	148789	HP:0010864	Intellectual disability, severe
OMIM:236670	B3GALNT2	148789	HP:0002085	Occipital encephalocele
OMIM:236670	B3GALNT2	148789	HP:0002189	Excessive daytime sleepiness
OMIM:236670	B3GALNT2	148789	HP:0000557	Buphthalmos
OMIM:236670	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	B3GALNT2	148789	HP:0003741	Congenital muscular dystrophy
OMIM:236670	B3GALNT2	148789	HP:0000545	Myopia
OMIM:236670	B3GALNT2	148789	HP:0007973	Retinal dysplasia
OMIM:236670	B3GALNT2	148789	HP:0006888	Meningoencephalocele
OMIM:236670	B3GALNT2	148789	HP:0000252	Microcephaly
OMIM:236670	B3GALNT2	148789	HP:0002023	Anal atresia
OMIM:236670	B3GALNT2	148789	HP:0006891	Thick cerebral cortex
OMIM:236670	B3GALNT2	148789	HP:0001274	Agenesis of corpus callosum
OMIM:236670	B3GALNT2	148789	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	B3GALNT2	148789	HP:0000110	Renal dysplasia
OMIM:236670	B3GALNT2	148789	HP:0000589	Coloboma
OMIM:236670	B3GALNT2	148789	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	B3GALNT2	148789	HP:0008551	Microtia
OMIM:236670	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:236670	B3GALNT2	148789	HP:0002126	Polymicrogyria
OMIM:236670	POMT1	10585	HP:0001105	Retinal atrophy
OMIM:236670	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:236670	POMT1	10585	HP:0000541	Retinal detachment
OMIM:236670	POMT1	10585	HP:0001425	Heterogeneous
OMIM:236670	POMT1	10585	HP:0007957	Corneal opacity
OMIM:236670	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:236670	POMT1	10585	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	POMT1	10585	HP:0000175	Cleft palate
OMIM:236670	POMT1	10585	HP:0007291	Posterior fossa cyst
OMIM:236670	POMT1	10585	HP:0002803	Congenital contracture
OMIM:236670	POMT1	10585	HP:0002187	Intellectual disability, profound
OMIM:236670	POMT1	10585	HP:0006829	Severe muscular hypotonia
OMIM:236670	POMT1	10585	HP:0000204	Cleft upper lip
OMIM:236670	POMT1	10585	HP:0000609	Optic nerve hypoplasia
OMIM:236670	POMT1	10585	HP:0000618	Blindness
OMIM:236670	POMT1	10585	HP:0001250	Seizures
OMIM:236670	POMT1	10585	HP:0000518	Cataract
OMIM:236670	POMT1	10585	HP:0000568	Microphthalmia
OMIM:236670	POMT1	10585	HP:0000659	Peters anomaly
OMIM:236670	POMT1	10585	HP:0000413	Atresia of the external auditory canal
OMIM:236670	POMT1	10585	HP:0001263	Global developmental delay
OMIM:236670	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:236670	POMT1	10585	HP:0000485	Megalocornea
OMIM:236670	POMT1	10585	HP:0001305	Dandy-Walker malformation
OMIM:236670	POMT1	10585	HP:0001302	Pachygyria
OMIM:236670	POMT1	10585	HP:0007033	Cerebellar dysplasia
OMIM:236670	POMT1	10585	HP:0010864	Intellectual disability, severe
OMIM:236670	POMT1	10585	HP:0002085	Occipital encephalocele
OMIM:236670	POMT1	10585	HP:0002189	Excessive daytime sleepiness
OMIM:236670	POMT1	10585	HP:0000557	Buphthalmos
OMIM:236670	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	POMT1	10585	HP:0003741	Congenital muscular dystrophy
OMIM:236670	POMT1	10585	HP:0000545	Myopia
OMIM:236670	POMT1	10585	HP:0007973	Retinal dysplasia
OMIM:236670	POMT1	10585	HP:0006888	Meningoencephalocele
OMIM:236670	POMT1	10585	HP:0000252	Microcephaly
OMIM:236670	POMT1	10585	HP:0002023	Anal atresia
OMIM:236670	POMT1	10585	HP:0006891	Thick cerebral cortex
OMIM:236670	POMT1	10585	HP:0001274	Agenesis of corpus callosum
OMIM:236670	POMT1	10585	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	POMT1	10585	HP:0000110	Renal dysplasia
OMIM:236670	POMT1	10585	HP:0000589	Coloboma
OMIM:236670	POMT1	10585	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	POMT1	10585	HP:0008551	Microtia
OMIM:236670	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:236670	POMT1	10585	HP:0002126	Polymicrogyria
OMIM:236670	TMEM5	10329	HP:0001105	Retinal atrophy
OMIM:236670	TMEM5	10329	HP:0001321	Cerebellar hypoplasia
OMIM:236670	TMEM5	10329	HP:0000541	Retinal detachment
OMIM:236670	TMEM5	10329	HP:0001425	Heterogeneous
OMIM:236670	TMEM5	10329	HP:0007957	Corneal opacity
OMIM:236670	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:236670	TMEM5	10329	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	TMEM5	10329	HP:0000175	Cleft palate
OMIM:236670	TMEM5	10329	HP:0007291	Posterior fossa cyst
OMIM:236670	TMEM5	10329	HP:0002803	Congenital contracture
OMIM:236670	TMEM5	10329	HP:0002187	Intellectual disability, profound
OMIM:236670	TMEM5	10329	HP:0006829	Severe muscular hypotonia
OMIM:236670	TMEM5	10329	HP:0000204	Cleft upper lip
OMIM:236670	TMEM5	10329	HP:0000609	Optic nerve hypoplasia
OMIM:236670	TMEM5	10329	HP:0000618	Blindness
OMIM:236670	TMEM5	10329	HP:0001250	Seizures
OMIM:236670	TMEM5	10329	HP:0000518	Cataract
OMIM:236670	TMEM5	10329	HP:0000568	Microphthalmia
OMIM:236670	TMEM5	10329	HP:0000659	Peters anomaly
OMIM:236670	TMEM5	10329	HP:0000413	Atresia of the external auditory canal
OMIM:236670	TMEM5	10329	HP:0001263	Global developmental delay
OMIM:236670	TMEM5	10329	HP:0000238	Hydrocephalus
OMIM:236670	TMEM5	10329	HP:0000485	Megalocornea
OMIM:236670	TMEM5	10329	HP:0001305	Dandy-Walker malformation
OMIM:236670	TMEM5	10329	HP:0001302	Pachygyria
OMIM:236670	TMEM5	10329	HP:0007033	Cerebellar dysplasia
OMIM:236670	TMEM5	10329	HP:0010864	Intellectual disability, severe
OMIM:236670	TMEM5	10329	HP:0002085	Occipital encephalocele
OMIM:236670	TMEM5	10329	HP:0002189	Excessive daytime sleepiness
OMIM:236670	TMEM5	10329	HP:0000557	Buphthalmos
OMIM:236670	TMEM5	10329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	TMEM5	10329	HP:0003741	Congenital muscular dystrophy
OMIM:236670	TMEM5	10329	HP:0000545	Myopia
OMIM:236670	TMEM5	10329	HP:0007973	Retinal dysplasia
OMIM:236670	TMEM5	10329	HP:0006888	Meningoencephalocele
OMIM:236670	TMEM5	10329	HP:0000252	Microcephaly
OMIM:236670	TMEM5	10329	HP:0002023	Anal atresia
OMIM:236670	TMEM5	10329	HP:0006891	Thick cerebral cortex
OMIM:236670	TMEM5	10329	HP:0001274	Agenesis of corpus callosum
OMIM:236670	TMEM5	10329	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	TMEM5	10329	HP:0000110	Renal dysplasia
OMIM:236670	TMEM5	10329	HP:0000589	Coloboma
OMIM:236670	TMEM5	10329	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	TMEM5	10329	HP:0008551	Microtia
OMIM:236670	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:236670	TMEM5	10329	HP:0002126	Polymicrogyria
OMIM:236670	POMGNT2	84892	HP:0001105	Retinal atrophy
OMIM:236670	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
OMIM:236670	POMGNT2	84892	HP:0000541	Retinal detachment
OMIM:236670	POMGNT2	84892	HP:0001425	Heterogeneous
OMIM:236670	POMGNT2	84892	HP:0007957	Corneal opacity
OMIM:236670	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:236670	POMGNT2	84892	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	POMGNT2	84892	HP:0000175	Cleft palate
OMIM:236670	POMGNT2	84892	HP:0007291	Posterior fossa cyst
OMIM:236670	POMGNT2	84892	HP:0002803	Congenital contracture
OMIM:236670	POMGNT2	84892	HP:0002187	Intellectual disability, profound
OMIM:236670	POMGNT2	84892	HP:0006829	Severe muscular hypotonia
OMIM:236670	POMGNT2	84892	HP:0000204	Cleft upper lip
OMIM:236670	POMGNT2	84892	HP:0000609	Optic nerve hypoplasia
OMIM:236670	POMGNT2	84892	HP:0000618	Blindness
OMIM:236670	POMGNT2	84892	HP:0001250	Seizures
OMIM:236670	POMGNT2	84892	HP:0000518	Cataract
OMIM:236670	POMGNT2	84892	HP:0000568	Microphthalmia
OMIM:236670	POMGNT2	84892	HP:0000659	Peters anomaly
OMIM:236670	POMGNT2	84892	HP:0000413	Atresia of the external auditory canal
OMIM:236670	POMGNT2	84892	HP:0001263	Global developmental delay
OMIM:236670	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:236670	POMGNT2	84892	HP:0000485	Megalocornea
OMIM:236670	POMGNT2	84892	HP:0001305	Dandy-Walker malformation
OMIM:236670	POMGNT2	84892	HP:0001302	Pachygyria
OMIM:236670	POMGNT2	84892	HP:0007033	Cerebellar dysplasia
OMIM:236670	POMGNT2	84892	HP:0010864	Intellectual disability, severe
OMIM:236670	POMGNT2	84892	HP:0002085	Occipital encephalocele
OMIM:236670	POMGNT2	84892	HP:0002189	Excessive daytime sleepiness
OMIM:236670	POMGNT2	84892	HP:0000557	Buphthalmos
OMIM:236670	POMGNT2	84892	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	POMGNT2	84892	HP:0003741	Congenital muscular dystrophy
OMIM:236670	POMGNT2	84892	HP:0000545	Myopia
OMIM:236670	POMGNT2	84892	HP:0007973	Retinal dysplasia
OMIM:236670	POMGNT2	84892	HP:0006888	Meningoencephalocele
OMIM:236670	POMGNT2	84892	HP:0000252	Microcephaly
OMIM:236670	POMGNT2	84892	HP:0002023	Anal atresia
OMIM:236670	POMGNT2	84892	HP:0006891	Thick cerebral cortex
OMIM:236670	POMGNT2	84892	HP:0001274	Agenesis of corpus callosum
OMIM:236670	POMGNT2	84892	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	POMGNT2	84892	HP:0000110	Renal dysplasia
OMIM:236670	POMGNT2	84892	HP:0000589	Coloboma
OMIM:236670	POMGNT2	84892	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	POMGNT2	84892	HP:0008551	Microtia
OMIM:236670	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:236670	POMGNT2	84892	HP:0002126	Polymicrogyria
OMIM:236670	LARGE	9215	HP:0001105	Retinal atrophy
OMIM:236670	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:236670	LARGE	9215	HP:0000541	Retinal detachment
OMIM:236670	LARGE	9215	HP:0001425	Heterogeneous
OMIM:236670	LARGE	9215	HP:0007957	Corneal opacity
OMIM:236670	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:236670	LARGE	9215	HP:0002365	Hypoplasia of the brainstem
OMIM:236670	LARGE	9215	HP:0000175	Cleft palate
OMIM:236670	LARGE	9215	HP:0007291	Posterior fossa cyst
OMIM:236670	LARGE	9215	HP:0002803	Congenital contracture
OMIM:236670	LARGE	9215	HP:0002187	Intellectual disability, profound
OMIM:236670	LARGE	9215	HP:0006829	Severe muscular hypotonia
OMIM:236670	LARGE	9215	HP:0000204	Cleft upper lip
OMIM:236670	LARGE	9215	HP:0000609	Optic nerve hypoplasia
OMIM:236670	LARGE	9215	HP:0000618	Blindness
OMIM:236670	LARGE	9215	HP:0001250	Seizures
OMIM:236670	LARGE	9215	HP:0000518	Cataract
OMIM:236670	LARGE	9215	HP:0000568	Microphthalmia
OMIM:236670	LARGE	9215	HP:0000659	Peters anomaly
OMIM:236670	LARGE	9215	HP:0000413	Atresia of the external auditory canal
OMIM:236670	LARGE	9215	HP:0001263	Global developmental delay
OMIM:236670	LARGE	9215	HP:0000238	Hydrocephalus
OMIM:236670	LARGE	9215	HP:0000485	Megalocornea
OMIM:236670	LARGE	9215	HP:0001305	Dandy-Walker malformation
OMIM:236670	LARGE	9215	HP:0001302	Pachygyria
OMIM:236670	LARGE	9215	HP:0007033	Cerebellar dysplasia
OMIM:236670	LARGE	9215	HP:0010864	Intellectual disability, severe
OMIM:236670	LARGE	9215	HP:0002085	Occipital encephalocele
OMIM:236670	LARGE	9215	HP:0002189	Excessive daytime sleepiness
OMIM:236670	LARGE	9215	HP:0000557	Buphthalmos
OMIM:236670	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:236670	LARGE	9215	HP:0003741	Congenital muscular dystrophy
OMIM:236670	LARGE	9215	HP:0000545	Myopia
OMIM:236670	LARGE	9215	HP:0007973	Retinal dysplasia
OMIM:236670	LARGE	9215	HP:0006888	Meningoencephalocele
OMIM:236670	LARGE	9215	HP:0000252	Microcephaly
OMIM:236670	LARGE	9215	HP:0002023	Anal atresia
OMIM:236670	LARGE	9215	HP:0006891	Thick cerebral cortex
OMIM:236670	LARGE	9215	HP:0001274	Agenesis of corpus callosum
OMIM:236670	LARGE	9215	HP:0002079	Hypoplasia of the corpus callosum
OMIM:236670	LARGE	9215	HP:0000110	Renal dysplasia
OMIM:236670	LARGE	9215	HP:0000589	Coloboma
OMIM:236670	LARGE	9215	HP:0000050	Hypoplastic male external genitalia
OMIM:236670	LARGE	9215	HP:0008551	Microtia
OMIM:236670	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:236670	LARGE	9215	HP:0002126	Polymicrogyria
OMIM:612936	AP4S1	11154	HP:0001272	Cerebellar atrophy
OMIM:612936	AP4S1	11154	HP:0000303	Mandibular prognathia
OMIM:612936	AP4S1	11154	HP:0000486	Strabismus
OMIM:612936	AP4S1	11154	HP:0002119	Ventriculomegaly
OMIM:612936	AP4S1	11154	HP:0010864	Intellectual disability, severe
OMIM:612936	AP4S1	11154	HP:0000218	High palate
OMIM:612936	AP4S1	11154	HP:0001258	Spastic paraplegia
OMIM:612936	AP4S1	11154	HP:0003487	Babinski sign
OMIM:612936	AP4S1	11154	HP:0001762	Talipes equinovarus
OMIM:612936	AP4S1	11154	HP:0002200	Pseudobulbar signs
OMIM:612936	AP4S1	11154	HP:0002510	Spastic tetraplegia
OMIM:612936	AP4S1	11154	HP:0003577	Congenital onset
OMIM:612936	AP4S1	11154	HP:0001319	Neonatal hypotonia
OMIM:612936	AP4S1	11154	HP:0001347	Hyperreflexia
OMIM:612936	AP4S1	11154	HP:0000154	Wide mouth
OMIM:612936	AP4S1	11154	HP:0002307	Drooling
OMIM:612936	AP4S1	11154	HP:0000322	Short philtrum
OMIM:612936	AP4S1	11154	HP:0006887	Intellectual disability, progressive
OMIM:612936	AP4S1	11154	HP:0001181	Adducted thumb
OMIM:612936	AP4S1	11154	HP:0002171	Gliosis
OMIM:612936	AP4S1	11154	HP:0000007	Autosomal recessive inheritance
OMIM:612936	AP4S1	11154	HP:0000252	Microcephaly
OMIM:612936	AP4S1	11154	HP:0001263	Global developmental delay
OMIM:612936	AP4S1	11154	HP:0000280	Coarse facial features
OMIM:612936	AP4S1	11154	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612936	AP4S1	11154	HP:0012811	Wide nasal ridge
OMIM:612936	AP4S1	11154	HP:0000414	Bulbous nose
OMIM:612936	AP4S1	11154	HP:0000341	Narrow forehead
OMIM:612936	AP4S1	11154	HP:0001250	Seizures
OMIM:612936	AP4E1	23431	HP:0001272	Cerebellar atrophy
OMIM:612936	AP4E1	23431	HP:0000303	Mandibular prognathia
OMIM:612936	AP4E1	23431	HP:0000486	Strabismus
OMIM:612936	AP4E1	23431	HP:0002119	Ventriculomegaly
OMIM:612936	AP4E1	23431	HP:0010864	Intellectual disability, severe
OMIM:612936	AP4E1	23431	HP:0000218	High palate
OMIM:612936	AP4E1	23431	HP:0001258	Spastic paraplegia
OMIM:612936	AP4E1	23431	HP:0003487	Babinski sign
OMIM:612936	AP4E1	23431	HP:0001762	Talipes equinovarus
OMIM:612936	AP4E1	23431	HP:0002200	Pseudobulbar signs
OMIM:612936	AP4E1	23431	HP:0002510	Spastic tetraplegia
OMIM:612936	AP4E1	23431	HP:0003577	Congenital onset
OMIM:612936	AP4E1	23431	HP:0001319	Neonatal hypotonia
OMIM:612936	AP4E1	23431	HP:0001347	Hyperreflexia
OMIM:612936	AP4E1	23431	HP:0000154	Wide mouth
OMIM:612936	AP4E1	23431	HP:0002307	Drooling
OMIM:612936	AP4E1	23431	HP:0000322	Short philtrum
OMIM:612936	AP4E1	23431	HP:0006887	Intellectual disability, progressive
OMIM:612936	AP4E1	23431	HP:0001181	Adducted thumb
OMIM:612936	AP4E1	23431	HP:0002171	Gliosis
OMIM:612936	AP4E1	23431	HP:0000007	Autosomal recessive inheritance
OMIM:612936	AP4E1	23431	HP:0000252	Microcephaly
OMIM:612936	AP4E1	23431	HP:0001263	Global developmental delay
OMIM:612936	AP4E1	23431	HP:0000280	Coarse facial features
OMIM:612936	AP4E1	23431	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612936	AP4E1	23431	HP:0012811	Wide nasal ridge
OMIM:612936	AP4E1	23431	HP:0000414	Bulbous nose
OMIM:612936	AP4E1	23431	HP:0000341	Narrow forehead
OMIM:612936	AP4E1	23431	HP:0001250	Seizures
OMIM:612936	AP4M1	9179	HP:0001272	Cerebellar atrophy
OMIM:612936	AP4M1	9179	HP:0000303	Mandibular prognathia
OMIM:612936	AP4M1	9179	HP:0000486	Strabismus
OMIM:612936	AP4M1	9179	HP:0002119	Ventriculomegaly
OMIM:612936	AP4M1	9179	HP:0010864	Intellectual disability, severe
OMIM:612936	AP4M1	9179	HP:0000218	High palate
OMIM:612936	AP4M1	9179	HP:0001258	Spastic paraplegia
OMIM:612936	AP4M1	9179	HP:0003487	Babinski sign
OMIM:612936	AP4M1	9179	HP:0001762	Talipes equinovarus
OMIM:612936	AP4M1	9179	HP:0002200	Pseudobulbar signs
OMIM:612936	AP4M1	9179	HP:0002510	Spastic tetraplegia
OMIM:612936	AP4M1	9179	HP:0003577	Congenital onset
OMIM:612936	AP4M1	9179	HP:0001319	Neonatal hypotonia
OMIM:612936	AP4M1	9179	HP:0001347	Hyperreflexia
OMIM:612936	AP4M1	9179	HP:0000154	Wide mouth
OMIM:612936	AP4M1	9179	HP:0002307	Drooling
OMIM:612936	AP4M1	9179	HP:0000322	Short philtrum
OMIM:612936	AP4M1	9179	HP:0006887	Intellectual disability, progressive
OMIM:612936	AP4M1	9179	HP:0001181	Adducted thumb
OMIM:612936	AP4M1	9179	HP:0002171	Gliosis
OMIM:612936	AP4M1	9179	HP:0000007	Autosomal recessive inheritance
OMIM:612936	AP4M1	9179	HP:0000252	Microcephaly
OMIM:612936	AP4M1	9179	HP:0001263	Global developmental delay
OMIM:612936	AP4M1	9179	HP:0000280	Coarse facial features
OMIM:612936	AP4M1	9179	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612936	AP4M1	9179	HP:0012811	Wide nasal ridge
OMIM:612936	AP4M1	9179	HP:0000414	Bulbous nose
OMIM:612936	AP4M1	9179	HP:0000341	Narrow forehead
OMIM:612936	AP4M1	9179	HP:0001250	Seizures
OMIM:612936	AP4B1	10717	HP:0001272	Cerebellar atrophy
OMIM:612936	AP4B1	10717	HP:0000303	Mandibular prognathia
OMIM:612936	AP4B1	10717	HP:0000486	Strabismus
OMIM:612936	AP4B1	10717	HP:0002119	Ventriculomegaly
OMIM:612936	AP4B1	10717	HP:0010864	Intellectual disability, severe
OMIM:612936	AP4B1	10717	HP:0000218	High palate
OMIM:612936	AP4B1	10717	HP:0001258	Spastic paraplegia
OMIM:612936	AP4B1	10717	HP:0003487	Babinski sign
OMIM:612936	AP4B1	10717	HP:0001762	Talipes equinovarus
OMIM:612936	AP4B1	10717	HP:0002200	Pseudobulbar signs
OMIM:612936	AP4B1	10717	HP:0002510	Spastic tetraplegia
OMIM:612936	AP4B1	10717	HP:0003577	Congenital onset
OMIM:612936	AP4B1	10717	HP:0001319	Neonatal hypotonia
OMIM:612936	AP4B1	10717	HP:0001347	Hyperreflexia
OMIM:612936	AP4B1	10717	HP:0000154	Wide mouth
OMIM:612936	AP4B1	10717	HP:0002307	Drooling
OMIM:612936	AP4B1	10717	HP:0000322	Short philtrum
OMIM:612936	AP4B1	10717	HP:0006887	Intellectual disability, progressive
OMIM:612936	AP4B1	10717	HP:0001181	Adducted thumb
OMIM:612936	AP4B1	10717	HP:0002171	Gliosis
OMIM:612936	AP4B1	10717	HP:0000007	Autosomal recessive inheritance
OMIM:612936	AP4B1	10717	HP:0000252	Microcephaly
OMIM:612936	AP4B1	10717	HP:0001263	Global developmental delay
OMIM:612936	AP4B1	10717	HP:0000280	Coarse facial features
OMIM:612936	AP4B1	10717	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612936	AP4B1	10717	HP:0012811	Wide nasal ridge
OMIM:612936	AP4B1	10717	HP:0000414	Bulbous nose
OMIM:612936	AP4B1	10717	HP:0000341	Narrow forehead
OMIM:612936	AP4B1	10717	HP:0001250	Seizures
OMIM:614450	THRA	7067	HP:0001903	Anemia
OMIM:614450	THRA	7067	HP:0004482	Relative macrocephaly
OMIM:614450	THRA	7067	HP:0002750	Delayed skeletal maturation
OMIM:614450	THRA	7067	HP:0000684	Delayed eruption of teeth
OMIM:614450	THRA	7067	HP:0001510	Growth delay
OMIM:614450	THRA	7067	HP:0000006	Autosomal dominant inheritance
OMIM:614450	THRA	7067	HP:0000958	Dry skin
OMIM:614450	THRA	7067	HP:0001539	Omphalocele
OMIM:614450	THRA	7067	HP:0000158	Macroglossia
OMIM:614450	THRA	7067	HP:0001374	Congenital hip dislocation
OMIM:614450	THRA	7067	HP:0002019	Constipation
OMIM:614450	THRA	7067	HP:0000316	Hypertelorism
OMIM:614450	THRB	7068	HP:0001903	Anemia
OMIM:614450	THRB	7068	HP:0004482	Relative macrocephaly
OMIM:614450	THRB	7068	HP:0002750	Delayed skeletal maturation
OMIM:614450	THRB	7068	HP:0000684	Delayed eruption of teeth
OMIM:614450	THRB	7068	HP:0001510	Growth delay
OMIM:614450	THRB	7068	HP:0000006	Autosomal dominant inheritance
OMIM:614450	THRB	7068	HP:0000958	Dry skin
OMIM:614450	THRB	7068	HP:0001539	Omphalocele
OMIM:614450	THRB	7068	HP:0000158	Macroglossia
OMIM:614450	THRB	7068	HP:0001374	Congenital hip dislocation
OMIM:614450	THRB	7068	HP:0002019	Constipation
OMIM:614450	THRB	7068	HP:0000316	Hypertelorism
OMIM:604537	AIPL1	23746	HP:0000639	Nystagmus
OMIM:604537	AIPL1	23746	HP:0000540	Hypermetropia
OMIM:604537	AIPL1	23746	HP:0000550	Undetectable electroretinogram
OMIM:604537	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:604537	AIPL1	23746	HP:0000505	Visual impairment
OMIM:604537	NMNAT1	64802	HP:0000639	Nystagmus
OMIM:604537	NMNAT1	64802	HP:0000540	Hypermetropia
OMIM:604537	NMNAT1	64802	HP:0000550	Undetectable electroretinogram
OMIM:604537	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:604537	NMNAT1	64802	HP:0000505	Visual impairment
OMIM:604537	SPATA7	55812	HP:0000639	Nystagmus
OMIM:604537	SPATA7	55812	HP:0000540	Hypermetropia
OMIM:604537	SPATA7	55812	HP:0000550	Undetectable electroretinogram
OMIM:604537	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:604537	SPATA7	55812	HP:0000505	Visual impairment
OMIM:604537	RDH12	145226	HP:0000639	Nystagmus
OMIM:604537	RDH12	145226	HP:0000540	Hypermetropia
OMIM:604537	RDH12	145226	HP:0000550	Undetectable electroretinogram
OMIM:604537	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:604537	RDH12	145226	HP:0000505	Visual impairment
OMIM:604537	RPGRIP1	57096	HP:0000639	Nystagmus
OMIM:604537	RPGRIP1	57096	HP:0000540	Hypermetropia
OMIM:604537	RPGRIP1	57096	HP:0000550	Undetectable electroretinogram
OMIM:604537	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:604537	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:604537	LCA5	167691	HP:0000639	Nystagmus
OMIM:604537	LCA5	167691	HP:0000540	Hypermetropia
OMIM:604537	LCA5	167691	HP:0000550	Undetectable electroretinogram
OMIM:604537	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:604537	LCA5	167691	HP:0000505	Visual impairment
OMIM:604537	RPE65	6121	HP:0000639	Nystagmus
OMIM:604537	RPE65	6121	HP:0000540	Hypermetropia
OMIM:604537	RPE65	6121	HP:0000550	Undetectable electroretinogram
OMIM:604537	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:604537	RPE65	6121	HP:0000505	Visual impairment
OMIM:604537	LRAT	9227	HP:0000639	Nystagmus
OMIM:604537	LRAT	9227	HP:0000540	Hypermetropia
OMIM:604537	LRAT	9227	HP:0000550	Undetectable electroretinogram
OMIM:604537	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:604537	LRAT	9227	HP:0000505	Visual impairment
OMIM:604537	IFT140	9742	HP:0000639	Nystagmus
OMIM:604537	IFT140	9742	HP:0000540	Hypermetropia
OMIM:604537	IFT140	9742	HP:0000550	Undetectable electroretinogram
OMIM:604537	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:604537	IFT140	9742	HP:0000505	Visual impairment
OMIM:604537	TULP1	7287	HP:0000639	Nystagmus
OMIM:604537	TULP1	7287	HP:0000540	Hypermetropia
OMIM:604537	TULP1	7287	HP:0000550	Undetectable electroretinogram
OMIM:604537	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:604537	TULP1	7287	HP:0000505	Visual impairment
OMIM:604537	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:604537	GUCY2D	3000	HP:0000540	Hypermetropia
OMIM:604537	GUCY2D	3000	HP:0000550	Undetectable electroretinogram
OMIM:604537	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:604537	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:604537	CEP290	80184	HP:0000639	Nystagmus
OMIM:604537	CEP290	80184	HP:0000540	Hypermetropia
OMIM:604537	CEP290	80184	HP:0000550	Undetectable electroretinogram
OMIM:604537	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:604537	CEP290	80184	HP:0000505	Visual impairment
OMIM:604537	IQCB1	9657	HP:0000639	Nystagmus
OMIM:604537	IQCB1	9657	HP:0000540	Hypermetropia
OMIM:604537	IQCB1	9657	HP:0000550	Undetectable electroretinogram
OMIM:604537	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:604537	IQCB1	9657	HP:0000505	Visual impairment
OMIM:604537	KCNJ13	3769	HP:0000639	Nystagmus
OMIM:604537	KCNJ13	3769	HP:0000540	Hypermetropia
OMIM:604537	KCNJ13	3769	HP:0000550	Undetectable electroretinogram
OMIM:604537	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:604537	KCNJ13	3769	HP:0000505	Visual impairment
OMIM:604537	CRB1	23418	HP:0000639	Nystagmus
OMIM:604537	CRB1	23418	HP:0000540	Hypermetropia
OMIM:604537	CRB1	23418	HP:0000550	Undetectable electroretinogram
OMIM:604537	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:604537	CRB1	23418	HP:0000505	Visual impairment
OMIM:604537	GDF6	392255	HP:0000639	Nystagmus
OMIM:604537	GDF6	392255	HP:0000540	Hypermetropia
OMIM:604537	GDF6	392255	HP:0000550	Undetectable electroretinogram
OMIM:604537	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:604537	GDF6	392255	HP:0000505	Visual impairment
OMIM:604537	RD3	343035	HP:0000639	Nystagmus
OMIM:604537	RD3	343035	HP:0000540	Hypermetropia
OMIM:604537	RD3	343035	HP:0000550	Undetectable electroretinogram
OMIM:604537	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:604537	RD3	343035	HP:0000505	Visual impairment
OMIM:604537	CRX	1406	HP:0000639	Nystagmus
OMIM:604537	CRX	1406	HP:0000540	Hypermetropia
OMIM:604537	CRX	1406	HP:0000550	Undetectable electroretinogram
OMIM:604537	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:604537	CRX	1406	HP:0000505	Visual impairment
OMIM:604537	IMPDH1	3614	HP:0000639	Nystagmus
OMIM:604537	IMPDH1	3614	HP:0000540	Hypermetropia
OMIM:604537	IMPDH1	3614	HP:0000550	Undetectable electroretinogram
OMIM:604537	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:604537	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:607364	CLCNKB	1188	HP:0008046	Abnormality of the retinal vasculature
OMIM:607364	CLCNKB	1188	HP:0000610	Abnormality of the choroid
OMIM:607364	CLCNKB	1188	HP:0000591	Abnormality of the sclera
OMIM:607364	CLCNKB	1188	HP:0001944	Dehydration
OMIM:607364	CLCNKB	1188	HP:0003324	Generalized muscle weakness
OMIM:607364	CLCNKB	1188	HP:0000007	Autosomal recessive inheritance
OMIM:108600	VAMP1	6843	HP:0002354	Memory impairment
OMIM:108600	VAMP1	6843	HP:0001347	Hyperreflexia
OMIM:108600	VAMP1	6843	HP:0000006	Autosomal dominant inheritance
OMIM:108600	VAMP1	6843	HP:0001258	Spastic paraplegia
OMIM:108600	VAMP1	6843	HP:0001260	Dysarthria
OMIM:108600	VAMP1	6843	HP:0001288	Gait disturbance
OMIM:108600	VAMP1	6843	HP:0000508	Ptosis
OMIM:108600	VAMP1	6843	HP:0001332	Dystonia
OMIM:108600	VAMP1	6843	HP:0001761	Pes cavus
OMIM:108600	VAMP1	6843	HP:0002015	Dysphagia
OMIM:175700	GLI3	2737	HP:0001363	Craniosynostosis
OMIM:175700	GLI3	2737	HP:0011304	Broad thumb
OMIM:175700	GLI3	2737	HP:0006101	Finger syndactyly
OMIM:175700	GLI3	2737	HP:0000348	High forehead
OMIM:175700	GLI3	2737	HP:0005616	Accelerated skeletal maturation
OMIM:175700	GLI3	2737	HP:0000494	Downslanted palpebral fissures
OMIM:175700	GLI3	2737	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:175700	GLI3	2737	HP:0001162	Postaxial hand polydactyly
OMIM:175700	GLI3	2737	HP:0003828	Variable expressivity
OMIM:175700	GLI3	2737	HP:0009473	Joint contracture of the hand
OMIM:175700	GLI3	2737	HP:0001841	Preaxial foot polydactyly
OMIM:175700	GLI3	2737	HP:0003074	Hyperglycemia
OMIM:175700	GLI3	2737	HP:0000238	Hydrocephalus
OMIM:175700	GLI3	2737	HP:0000006	Autosomal dominant inheritance
OMIM:175700	GLI3	2737	HP:0001274	Agenesis of corpus callosum
OMIM:175700	GLI3	2737	HP:0000506	Telecanthus
OMIM:175700	GLI3	2737	HP:0000776	Congenital diaphragmatic hernia
OMIM:175700	GLI3	2737	HP:0010055	Broad hallux
OMIM:175700	GLI3	2737	HP:0004303	Abnormality of muscle fibers
OMIM:175700	GLI3	2737	HP:0000023	Inguinal hernia
OMIM:175700	GLI3	2737	HP:0001537	Umbilical hernia
OMIM:175700	GLI3	2737	HP:0002007	Frontal bossing
OMIM:175700	GLI3	2737	HP:0001770	Toe syndactyly
OMIM:175700	GLI3	2737	HP:0000256	Macrocephaly
OMIM:175700	GLI3	2737	HP:0000270	Delayed cranial suture closure
OMIM:175700	GLI3	2737	HP:0001007	Hirsutism
OMIM:175700	GLI3	2737	HP:0000028	Cryptorchidism
OMIM:175700	GLI3	2737	HP:0000268	Dolichocephaly
OMIM:175700	GLI3	2737	HP:0001627	Abnormal heart morphology
OMIM:175700	GLI3	2737	HP:0000243	Trigonocephaly
OMIM:175700	GLI3	2737	HP:0001250	Seizures
OMIM:175700	GLI3	2737	HP:0100543	Cognitive impairment
OMIM:175700	GLI3	2737	HP:0001177	Preaxial hand polydactyly
OMIM:175700	GLI3	2737	HP:0000316	Hypertelorism
OMIM:175700	GLI3	2737	HP:0000047	Hypospadias
OMIM:175700	GLI3	2737	HP:0001256	Intellectual disability, mild
OMIM:175700	GLI3	2737	HP:0000431	Wide nasal bridge
OMIM:175700	GLI3	2737	HP:0000366	Abnormality of the nose
OMIM:606367	IL2RA	3559	HP:0001433	Hepatosplenomegaly
OMIM:606367	IL2RA	3559	HP:0005403	T lymphocytopenia
OMIM:606367	IL2RA	3559	HP:0000819	Diabetes mellitus
OMIM:606367	IL2RA	3559	HP:0002205	Recurrent respiratory infections
OMIM:606367	IL2RA	3559	HP:0001596	Alopecia
OMIM:606367	IL2RA	3559	HP:0002718	Recurrent bacterial infections
OMIM:606367	IL2RA	3559	HP:0004429	Recurrent viral infections
OMIM:606367	IL2RA	3559	HP:0002240	Hepatomegaly
OMIM:606367	IL2RA	3559	HP:0002716	Lymphadenopathy
OMIM:606367	IL2RA	3559	HP:0002028	Chronic diarrhea
OMIM:606367	IL2RA	3559	HP:0001744	Splenomegaly
OMIM:606367	IL2RA	3559	HP:0000007	Autosomal recessive inheritance
OMIM:606367	IL2RA	3559	HP:0000821	Hypothyroidism
OMIM:606367	IL2RA	3559	HP:0002721	Immunodeficiency
OMIM:606367	IL2RA	3559	HP:0000964	Eczema
OMIM:606367	IL2RA	3559	HP:0011473	Villous atrophy
OMIM:606367	IL2RA	3559	HP:0002841	Recurrent fungal infections
OMIM:300911	ATP6AP2	10159	HP:0003487	Babinski sign
OMIM:300911	ATP6AP2	10159	HP:0003677	Slow progression
OMIM:300911	ATP6AP2	10159	HP:0002067	Bradykinesia
OMIM:300911	ATP6AP2	10159	HP:0001347	Hyperreflexia
OMIM:300911	ATP6AP2	10159	HP:0001300	Parkinsonism
OMIM:300911	ATP6AP2	10159	HP:0000007	Autosomal recessive inheritance
OMIM:300911	ATP6AP2	10159	HP:0001257	Spasticity
OMIM:231095	TBXAS1	6916	HP:0000944	Abnormality of the metaphyses
OMIM:231095	TBXAS1	6916	HP:0011001	Increased bone mineral density
OMIM:231095	TBXAS1	6916	HP:0002167	Neurological speech impairment
OMIM:231095	TBXAS1	6916	HP:0005528	Bone marrow hypocellularity
OMIM:231095	TBXAS1	6916	HP:0002992	Abnormality of the tibia
OMIM:231095	TBXAS1	6916	HP:0000007	Autosomal recessive inheritance
OMIM:231095	TBXAS1	6916	HP:0004493	Craniofacial hyperostosis
OMIM:231095	TBXAS1	6916	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:231095	TBXAS1	6916	HP:0003103	Abnormal cortical bone morphology
OMIM:231095	TBXAS1	6916	HP:0011974	Myelofibrosis
OMIM:231095	TBXAS1	6916	HP:0003812	Phenotypic variability
OMIM:231095	TBXAS1	6916	HP:0002823	Abnormality of the femur
OMIM:231095	TBXAS1	6916	HP:0006487	Bowing of the long bones
OMIM:231095	TBXAS1	6916	HP:0001744	Splenomegaly
OMIM:231095	TBXAS1	6916	HP:0001873	Thrombocytopenia
OMIM:231095	TBXAS1	6916	HP:0001882	Leukopenia
OMIM:231095	TBXAS1	6916	HP:0010978	Abnormality of immune system physiology
OMIM:231095	TBXAS1	6916	HP:0003312	Abnormal form of the vertebral bodies
OMIM:613657	IDH2	3418	HP:0001250	Seizures
OMIM:613657	IDH2	3418	HP:0001252	Muscular hypotonia
OMIM:613657	IDH2	3418	HP:0000006	Autosomal dominant inheritance
OMIM:613657	IDH2	3418	HP:0001263	Global developmental delay
OMIM:613657	IDH2	3418	HP:0001638	Cardiomyopathy
OMIM:613657	D2HGDH	728294	HP:0001250	Seizures
OMIM:613657	D2HGDH	728294	HP:0001252	Muscular hypotonia
OMIM:613657	D2HGDH	728294	HP:0000006	Autosomal dominant inheritance
OMIM:613657	D2HGDH	728294	HP:0001263	Global developmental delay
OMIM:613657	D2HGDH	728294	HP:0001638	Cardiomyopathy
OMIM:601003	ATP2A1	487	HP:0000007	Autosomal recessive inheritance
OMIM:601003	ATP2A1	487	HP:0003394	Muscle cramps
OMIM:115195	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:115195	TNNT2	7139	HP:0001639	Hypertrophic cardiomyopathy
OMIM:612651	ICK	22858	HP:0001159	Syndactyly
OMIM:612651	ICK	22858	HP:0000046	Scrotal hypoplasia
OMIM:612651	ICK	22858	HP:0000007	Autosomal recessive inheritance
OMIM:612651	ICK	22858	HP:0000047	Hypospadias
OMIM:612651	ICK	22858	HP:0030260	Microphallus
OMIM:612651	ICK	22858	HP:0000272	Malar flattening
OMIM:612651	ICK	22858	HP:0000238	Hydrocephalus
OMIM:612651	ICK	22858	HP:0006610	Wide intermamillary distance
OMIM:612651	ICK	22858	HP:0000835	Adrenal hypoplasia
OMIM:612651	ICK	22858	HP:0000347	Micrognathia
OMIM:612651	ICK	22858	HP:0000369	Low-set ears
OMIM:612651	ICK	22858	HP:0002983	Micromelia
OMIM:612651	ICK	22858	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:612651	ICK	22858	HP:0002119	Ventriculomegaly
OMIM:612651	ICK	22858	HP:0000054	Micropenis
OMIM:612651	ICK	22858	HP:0000062	Ambiguous genitalia
OMIM:612651	ICK	22858	HP:0000914	Shield chest
OMIM:612651	ICK	22858	HP:0001156	Brachydactyly syndrome
OMIM:612651	ICK	22858	HP:0000028	Cryptorchidism
OMIM:612651	ICK	22858	HP:0001360	Holoprosencephaly
OMIM:612651	ICK	22858	HP:0001552	Barrel-shaped chest
OMIM:612651	ICK	22858	HP:0001852	Sandal gap
OMIM:612651	ICK	22858	HP:0100259	Postaxial polydactyly
OMIM:612651	ICK	22858	HP:0011800	Hypoplasia of midface
OMIM:612651	ICK	22858	HP:0000204	Cleft upper lip
OMIM:612651	ICK	22858	HP:0000377	Abnormality of the pinna
OMIM:612651	ICK	22858	HP:0000431	Wide nasal bridge
OMIM:612651	ICK	22858	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:612651	ICK	22858	HP:0000175	Cleft palate
OMIM:113300	PTHLH	5744	HP:0001156	Brachydactyly syndrome
OMIM:113300	PTHLH	5744	HP:0000006	Autosomal dominant inheritance
OMIM:113300	PTHLH	5744	HP:0010049	Short metacarpal
OMIM:113300	PTHLH	5744	HP:0000894	Short clavicles
OMIM:113300	PTHLH	5744	HP:0010743	Short metatarsal
OMIM:113300	PTHLH	5744	HP:0000311	Round face
OMIM:113300	HOXD13	3239	HP:0001156	Brachydactyly syndrome
OMIM:113300	HOXD13	3239	HP:0000006	Autosomal dominant inheritance
OMIM:113300	HOXD13	3239	HP:0010049	Short metacarpal
OMIM:113300	HOXD13	3239	HP:0000894	Short clavicles
OMIM:113300	HOXD13	3239	HP:0010743	Short metatarsal
OMIM:113300	HOXD13	3239	HP:0000311	Round face
OMIM:154780	COL11A1	1301	HP:0005280	Depressed nasal bridge
OMIM:154780	COL11A1	1301	HP:0009924	Aplasia/Hypoplasia involving the nose
OMIM:154780	COL11A1	1301	HP:0002829	Arthralgia
OMIM:154780	COL11A1	1301	HP:0000639	Nystagmus
OMIM:154780	COL11A1	1301	HP:0000347	Micrognathia
OMIM:154780	COL11A1	1301	HP:0000215	Thick upper lip vermilion
OMIM:154780	COL11A1	1301	HP:0000520	Proptosis
OMIM:154780	COL11A1	1301	HP:0000655	Vitreoretinal degeneration
OMIM:154780	COL11A1	1301	HP:0000369	Low-set ears
OMIM:154780	COL11A1	1301	HP:0003196	Short nose
OMIM:154780	COL11A1	1301	HP:0002857	Genu valgum
OMIM:154780	COL11A1	1301	HP:0000463	Anteverted nares
OMIM:154780	COL11A1	1301	HP:0000407	Sensorineural hearing impairment
OMIM:154780	COL11A1	1301	HP:0000505	Visual impairment
OMIM:154780	COL11A1	1301	HP:0000286	Epicanthus
OMIM:154780	COL11A1	1301	HP:0004322	Short stature
OMIM:154780	COL11A1	1301	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:154780	COL11A1	1301	HP:0000343	Long philtrum
OMIM:154780	COL11A1	1301	HP:0002986	Radial bowing
OMIM:154780	COL11A1	1301	HP:0011362	Abnormal hair quantity
OMIM:154780	COL11A1	1301	HP:0000272	Malar flattening
OMIM:154780	COL11A1	1301	HP:0000545	Myopia
OMIM:154780	COL11A1	1301	HP:0004493	Craniofacial hyperostosis
OMIM:154780	COL11A1	1301	HP:0000541	Retinal detachment
OMIM:154780	COL11A1	1301	HP:0002007	Frontal bossing
OMIM:154780	COL11A1	1301	HP:0000565	Esotropia
OMIM:154780	COL11A1	1301	HP:0002684	Thickened calvaria
OMIM:154780	COL11A1	1301	HP:0004327	Abnormality of the vitreous humor
OMIM:154780	COL11A1	1301	HP:0000201	Pierre-Robin sequence
OMIM:154780	COL11A1	1301	HP:0000501	Glaucoma
OMIM:154780	COL11A1	1301	HP:0000175	Cleft palate
OMIM:154780	COL11A1	1301	HP:0002673	Coxa valga
OMIM:154780	COL11A1	1301	HP:0040199	Flat midface
OMIM:154780	COL11A1	1301	HP:0000966	Hypohidrosis
OMIM:154780	COL11A1	1301	HP:0002758	Osteoarthritis
OMIM:154780	COL11A1	1301	HP:0000179	Thick lower lip vermilion
OMIM:154780	COL11A1	1301	HP:0000519	Congenital cataract
OMIM:154780	COL11A1	1301	HP:0000316	Hypertelorism
OMIM:154780	COL11A1	1301	HP:0000946	Hypoplastic ilia
OMIM:154780	COL11A1	1301	HP:0000926	Platyspondyly
OMIM:154780	COL11A1	1301	HP:0000006	Autosomal dominant inheritance
OMIM:154780	COL11A1	1301	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:516001	ND2	4536	HP:0001427	Mitochondrial inheritance
OMIM:516001	ND2	4536	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:516001	ND2	4536	HP:0000543	Optic disc pallor
OMIM:516001	ND2	4536	HP:0003674	Onset
OMIM:516001	ND2	4536	HP:0002315	Headache
OMIM:613161	UPB1	51733	HP:0000007	Autosomal recessive inheritance
OMIM:613161	UPB1	51733	HP:0001249	Intellectual disability
OMIM:613161	UPB1	51733	HP:0000252	Microcephaly
OMIM:613161	UPB1	51733	HP:0001319	Neonatal hypotonia
OMIM:613161	UPB1	51733	HP:0001332	Dystonia
OMIM:613161	UPB1	51733	HP:0002023	Anal atresia
OMIM:613161	UPB1	51733	HP:0002521	Hypsarrhythmia
OMIM:613161	UPB1	51733	HP:0002167	Neurological speech impairment
OMIM:613161	UPB1	51733	HP:0002188	Delayed CNS myelination
OMIM:613161	UPB1	51733	HP:0002133	Status epilepticus
OMIM:613161	UPB1	51733	HP:0003593	Infantile onset
OMIM:613161	UPB1	51733	HP:0000048	Bifid scrotum
OMIM:613161	UPB1	51733	HP:0002650	Scoliosis
OMIM:308700	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	PROK2	60675	HP:0001251	Ataxia
OMIM:308700	PROK2	60675	HP:0001417	X-linked inheritance
OMIM:308700	PROK2	60675	HP:0000054	Micropenis
OMIM:308700	PROK2	60675	HP:0000122	Unilateral renal agenesis
OMIM:308700	PROK2	60675	HP:0000458	Anosmia
OMIM:308700	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:308700	PROK2	60675	HP:0000218	High palate
OMIM:308700	PROK2	60675	HP:0001761	Pes cavus
OMIM:308700	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	PROKR2	128674	HP:0001251	Ataxia
OMIM:308700	PROKR2	128674	HP:0001417	X-linked inheritance
OMIM:308700	PROKR2	128674	HP:0000054	Micropenis
OMIM:308700	PROKR2	128674	HP:0000122	Unilateral renal agenesis
OMIM:308700	PROKR2	128674	HP:0000458	Anosmia
OMIM:308700	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:308700	PROKR2	128674	HP:0000218	High palate
OMIM:308700	PROKR2	128674	HP:0001761	Pes cavus
OMIM:308700	SEMA3A	10371	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	SEMA3A	10371	HP:0001251	Ataxia
OMIM:308700	SEMA3A	10371	HP:0001417	X-linked inheritance
OMIM:308700	SEMA3A	10371	HP:0000054	Micropenis
OMIM:308700	SEMA3A	10371	HP:0000122	Unilateral renal agenesis
OMIM:308700	SEMA3A	10371	HP:0000458	Anosmia
OMIM:308700	SEMA3A	10371	HP:0000028	Cryptorchidism
OMIM:308700	SEMA3A	10371	HP:0000218	High palate
OMIM:308700	SEMA3A	10371	HP:0001761	Pes cavus
OMIM:308700	IL17RD	54756	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	IL17RD	54756	HP:0001251	Ataxia
OMIM:308700	IL17RD	54756	HP:0001417	X-linked inheritance
OMIM:308700	IL17RD	54756	HP:0000054	Micropenis
OMIM:308700	IL17RD	54756	HP:0000122	Unilateral renal agenesis
OMIM:308700	IL17RD	54756	HP:0000458	Anosmia
OMIM:308700	IL17RD	54756	HP:0000028	Cryptorchidism
OMIM:308700	IL17RD	54756	HP:0000218	High palate
OMIM:308700	IL17RD	54756	HP:0001761	Pes cavus
OMIM:308700	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	WDR11	55717	HP:0001251	Ataxia
OMIM:308700	WDR11	55717	HP:0001417	X-linked inheritance
OMIM:308700	WDR11	55717	HP:0000054	Micropenis
OMIM:308700	WDR11	55717	HP:0000122	Unilateral renal agenesis
OMIM:308700	WDR11	55717	HP:0000458	Anosmia
OMIM:308700	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:308700	WDR11	55717	HP:0000218	High palate
OMIM:308700	WDR11	55717	HP:0001761	Pes cavus
OMIM:308700	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	KISS1	3814	HP:0001251	Ataxia
OMIM:308700	KISS1	3814	HP:0001417	X-linked inheritance
OMIM:308700	KISS1	3814	HP:0000054	Micropenis
OMIM:308700	KISS1	3814	HP:0000122	Unilateral renal agenesis
OMIM:308700	KISS1	3814	HP:0000458	Anosmia
OMIM:308700	KISS1	3814	HP:0000028	Cryptorchidism
OMIM:308700	KISS1	3814	HP:0000218	High palate
OMIM:308700	KISS1	3814	HP:0001761	Pes cavus
OMIM:308700	SOX10	6663	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	SOX10	6663	HP:0001251	Ataxia
OMIM:308700	SOX10	6663	HP:0001417	X-linked inheritance
OMIM:308700	SOX10	6663	HP:0000054	Micropenis
OMIM:308700	SOX10	6663	HP:0000122	Unilateral renal agenesis
OMIM:308700	SOX10	6663	HP:0000458	Anosmia
OMIM:308700	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:308700	SOX10	6663	HP:0000218	High palate
OMIM:308700	SOX10	6663	HP:0001761	Pes cavus
OMIM:308700	FEZF1	389549	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	FEZF1	389549	HP:0001251	Ataxia
OMIM:308700	FEZF1	389549	HP:0001417	X-linked inheritance
OMIM:308700	FEZF1	389549	HP:0000054	Micropenis
OMIM:308700	FEZF1	389549	HP:0000122	Unilateral renal agenesis
OMIM:308700	FEZF1	389549	HP:0000458	Anosmia
OMIM:308700	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:308700	FEZF1	389549	HP:0000218	High palate
OMIM:308700	FEZF1	389549	HP:0001761	Pes cavus
OMIM:308700	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	GNRH1	2796	HP:0001251	Ataxia
OMIM:308700	GNRH1	2796	HP:0001417	X-linked inheritance
OMIM:308700	GNRH1	2796	HP:0000054	Micropenis
OMIM:308700	GNRH1	2796	HP:0000122	Unilateral renal agenesis
OMIM:308700	GNRH1	2796	HP:0000458	Anosmia
OMIM:308700	GNRH1	2796	HP:0000028	Cryptorchidism
OMIM:308700	GNRH1	2796	HP:0000218	High palate
OMIM:308700	GNRH1	2796	HP:0001761	Pes cavus
OMIM:308700	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	FGF8	2253	HP:0001251	Ataxia
OMIM:308700	FGF8	2253	HP:0001417	X-linked inheritance
OMIM:308700	FGF8	2253	HP:0000054	Micropenis
OMIM:308700	FGF8	2253	HP:0000122	Unilateral renal agenesis
OMIM:308700	FGF8	2253	HP:0000458	Anosmia
OMIM:308700	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:308700	FGF8	2253	HP:0000218	High palate
OMIM:308700	FGF8	2253	HP:0001761	Pes cavus
OMIM:308700	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	GNRHR	2798	HP:0001251	Ataxia
OMIM:308700	GNRHR	2798	HP:0001417	X-linked inheritance
OMIM:308700	GNRHR	2798	HP:0000054	Micropenis
OMIM:308700	GNRHR	2798	HP:0000122	Unilateral renal agenesis
OMIM:308700	GNRHR	2798	HP:0000458	Anosmia
OMIM:308700	GNRHR	2798	HP:0000028	Cryptorchidism
OMIM:308700	GNRHR	2798	HP:0000218	High palate
OMIM:308700	GNRHR	2798	HP:0001761	Pes cavus
OMIM:308700	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	ANOS1	3730	HP:0001251	Ataxia
OMIM:308700	ANOS1	3730	HP:0001417	X-linked inheritance
OMIM:308700	ANOS1	3730	HP:0000054	Micropenis
OMIM:308700	ANOS1	3730	HP:0000122	Unilateral renal agenesis
OMIM:308700	ANOS1	3730	HP:0000458	Anosmia
OMIM:308700	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:308700	ANOS1	3730	HP:0000218	High palate
OMIM:308700	ANOS1	3730	HP:0001761	Pes cavus
OMIM:308700	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	TAC3	6866	HP:0001251	Ataxia
OMIM:308700	TAC3	6866	HP:0001417	X-linked inheritance
OMIM:308700	TAC3	6866	HP:0000054	Micropenis
OMIM:308700	TAC3	6866	HP:0000122	Unilateral renal agenesis
OMIM:308700	TAC3	6866	HP:0000458	Anosmia
OMIM:308700	TAC3	6866	HP:0000028	Cryptorchidism
OMIM:308700	TAC3	6866	HP:0000218	High palate
OMIM:308700	TAC3	6866	HP:0001761	Pes cavus
OMIM:308700	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	HS6ST1	9394	HP:0001251	Ataxia
OMIM:308700	HS6ST1	9394	HP:0001417	X-linked inheritance
OMIM:308700	HS6ST1	9394	HP:0000054	Micropenis
OMIM:308700	HS6ST1	9394	HP:0000122	Unilateral renal agenesis
OMIM:308700	HS6ST1	9394	HP:0000458	Anosmia
OMIM:308700	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:308700	HS6ST1	9394	HP:0000218	High palate
OMIM:308700	HS6ST1	9394	HP:0001761	Pes cavus
OMIM:308700	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	CHD7	55636	HP:0001251	Ataxia
OMIM:308700	CHD7	55636	HP:0001417	X-linked inheritance
OMIM:308700	CHD7	55636	HP:0000054	Micropenis
OMIM:308700	CHD7	55636	HP:0000122	Unilateral renal agenesis
OMIM:308700	CHD7	55636	HP:0000458	Anosmia
OMIM:308700	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:308700	CHD7	55636	HP:0000218	High palate
OMIM:308700	CHD7	55636	HP:0001761	Pes cavus
OMIM:308700	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	FGFR1	2260	HP:0001251	Ataxia
OMIM:308700	FGFR1	2260	HP:0001417	X-linked inheritance
OMIM:308700	FGFR1	2260	HP:0000054	Micropenis
OMIM:308700	FGFR1	2260	HP:0000122	Unilateral renal agenesis
OMIM:308700	FGFR1	2260	HP:0000458	Anosmia
OMIM:308700	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:308700	FGFR1	2260	HP:0000218	High palate
OMIM:308700	FGFR1	2260	HP:0001761	Pes cavus
OMIM:308700	HESX1	8820	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	HESX1	8820	HP:0001251	Ataxia
OMIM:308700	HESX1	8820	HP:0001417	X-linked inheritance
OMIM:308700	HESX1	8820	HP:0000054	Micropenis
OMIM:308700	HESX1	8820	HP:0000122	Unilateral renal agenesis
OMIM:308700	HESX1	8820	HP:0000458	Anosmia
OMIM:308700	HESX1	8820	HP:0000028	Cryptorchidism
OMIM:308700	HESX1	8820	HP:0000218	High palate
OMIM:308700	HESX1	8820	HP:0001761	Pes cavus
OMIM:308700	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	TACR3	6870	HP:0001251	Ataxia
OMIM:308700	TACR3	6870	HP:0001417	X-linked inheritance
OMIM:308700	TACR3	6870	HP:0000054	Micropenis
OMIM:308700	TACR3	6870	HP:0000122	Unilateral renal agenesis
OMIM:308700	TACR3	6870	HP:0000458	Anosmia
OMIM:308700	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:308700	TACR3	6870	HP:0000218	High palate
OMIM:308700	TACR3	6870	HP:0001761	Pes cavus
OMIM:308700	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	FGF17	8822	HP:0001251	Ataxia
OMIM:308700	FGF17	8822	HP:0001417	X-linked inheritance
OMIM:308700	FGF17	8822	HP:0000054	Micropenis
OMIM:308700	FGF17	8822	HP:0000122	Unilateral renal agenesis
OMIM:308700	FGF17	8822	HP:0000458	Anosmia
OMIM:308700	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:308700	FGF17	8822	HP:0000218	High palate
OMIM:308700	FGF17	8822	HP:0001761	Pes cavus
OMIM:308700	FLRT3	23767	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	FLRT3	23767	HP:0001251	Ataxia
OMIM:308700	FLRT3	23767	HP:0001417	X-linked inheritance
OMIM:308700	FLRT3	23767	HP:0000054	Micropenis
OMIM:308700	FLRT3	23767	HP:0000122	Unilateral renal agenesis
OMIM:308700	FLRT3	23767	HP:0000458	Anosmia
OMIM:308700	FLRT3	23767	HP:0000028	Cryptorchidism
OMIM:308700	FLRT3	23767	HP:0000218	High palate
OMIM:308700	FLRT3	23767	HP:0001761	Pes cavus
OMIM:308700	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	DUSP6	1848	HP:0001251	Ataxia
OMIM:308700	DUSP6	1848	HP:0001417	X-linked inheritance
OMIM:308700	DUSP6	1848	HP:0000054	Micropenis
OMIM:308700	DUSP6	1848	HP:0000122	Unilateral renal agenesis
OMIM:308700	DUSP6	1848	HP:0000458	Anosmia
OMIM:308700	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:308700	DUSP6	1848	HP:0000218	High palate
OMIM:308700	DUSP6	1848	HP:0001761	Pes cavus
OMIM:308700	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	SPRY4	81848	HP:0001251	Ataxia
OMIM:308700	SPRY4	81848	HP:0001417	X-linked inheritance
OMIM:308700	SPRY4	81848	HP:0000054	Micropenis
OMIM:308700	SPRY4	81848	HP:0000122	Unilateral renal agenesis
OMIM:308700	SPRY4	81848	HP:0000458	Anosmia
OMIM:308700	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:308700	SPRY4	81848	HP:0000218	High palate
OMIM:308700	SPRY4	81848	HP:0001761	Pes cavus
OMIM:308700	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	KISS1R	84634	HP:0001251	Ataxia
OMIM:308700	KISS1R	84634	HP:0001417	X-linked inheritance
OMIM:308700	KISS1R	84634	HP:0000054	Micropenis
OMIM:308700	KISS1R	84634	HP:0000122	Unilateral renal agenesis
OMIM:308700	KISS1R	84634	HP:0000458	Anosmia
OMIM:308700	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:308700	KISS1R	84634	HP:0000218	High palate
OMIM:308700	KISS1R	84634	HP:0001761	Pes cavus
OMIM:308700	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:308700	NSMF	26012	HP:0001251	Ataxia
OMIM:308700	NSMF	26012	HP:0001417	X-linked inheritance
OMIM:308700	NSMF	26012	HP:0000054	Micropenis
OMIM:308700	NSMF	26012	HP:0000122	Unilateral renal agenesis
OMIM:308700	NSMF	26012	HP:0000458	Anosmia
OMIM:308700	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:308700	NSMF	26012	HP:0000218	High palate
OMIM:308700	NSMF	26012	HP:0001761	Pes cavus
OMIM:603909	FAS	355	HP:0000100	Nephrotic syndrome
OMIM:603909	FAS	355	HP:0002633	Vasculitis
OMIM:603909	FAS	355	HP:0002240	Hepatomegaly
OMIM:603909	FAS	355	HP:0001025	Urticaria
OMIM:603909	FAS	355	HP:0003493	Antinuclear antibody positivity
OMIM:603909	FAS	355	HP:0000123	Nephritis
OMIM:603909	FAS	355	HP:0001880	Eosinophilia
OMIM:603909	FAS	355	HP:0001744	Splenomegaly
OMIM:603909	FAS	355	HP:0003621	Juvenile onset
OMIM:603909	FAS	355	HP:0000006	Autosomal dominant inheritance
OMIM:603909	FASLG	356	HP:0000100	Nephrotic syndrome
OMIM:603909	FASLG	356	HP:0002633	Vasculitis
OMIM:603909	FASLG	356	HP:0002240	Hepatomegaly
OMIM:603909	FASLG	356	HP:0001025	Urticaria
OMIM:603909	FASLG	356	HP:0003493	Antinuclear antibody positivity
OMIM:603909	FASLG	356	HP:0000123	Nephritis
OMIM:603909	FASLG	356	HP:0001880	Eosinophilia
OMIM:603909	FASLG	356	HP:0001744	Splenomegaly
OMIM:603909	FASLG	356	HP:0003621	Juvenile onset
OMIM:603909	FASLG	356	HP:0000006	Autosomal dominant inheritance
OMIM:603909	CASP10	843	HP:0000100	Nephrotic syndrome
OMIM:603909	CASP10	843	HP:0002633	Vasculitis
OMIM:603909	CASP10	843	HP:0002240	Hepatomegaly
OMIM:603909	CASP10	843	HP:0001025	Urticaria
OMIM:603909	CASP10	843	HP:0003493	Antinuclear antibody positivity
OMIM:603909	CASP10	843	HP:0000123	Nephritis
OMIM:603909	CASP10	843	HP:0001880	Eosinophilia
OMIM:603909	CASP10	843	HP:0001744	Splenomegaly
OMIM:603909	CASP10	843	HP:0003621	Juvenile onset
OMIM:603909	CASP10	843	HP:0000006	Autosomal dominant inheritance
OMIM:603909	PRKCD	5580	HP:0000100	Nephrotic syndrome
OMIM:603909	PRKCD	5580	HP:0002633	Vasculitis
OMIM:603909	PRKCD	5580	HP:0002240	Hepatomegaly
OMIM:603909	PRKCD	5580	HP:0001025	Urticaria
OMIM:603909	PRKCD	5580	HP:0003493	Antinuclear antibody positivity
OMIM:603909	PRKCD	5580	HP:0000123	Nephritis
OMIM:603909	PRKCD	5580	HP:0001880	Eosinophilia
OMIM:603909	PRKCD	5580	HP:0001744	Splenomegaly
OMIM:603909	PRKCD	5580	HP:0003621	Juvenile onset
OMIM:603909	PRKCD	5580	HP:0000006	Autosomal dominant inheritance
OMIM:612138	PLEC	5339	HP:0001376	Limitation of joint mobility
OMIM:612138	PLEC	5339	HP:0002577	Abnormality of the stomach
OMIM:612138	PLEC	5339	HP:0000490	Deeply set eye
OMIM:612138	PLEC	5339	HP:0000366	Abnormality of the nose
OMIM:612138	PLEC	5339	HP:0001371	Flexion contracture
OMIM:612138	PLEC	5339	HP:0001030	Fragile skin
OMIM:612138	PLEC	5339	HP:0001944	Dehydration
OMIM:612138	PLEC	5339	HP:0008551	Microtia
OMIM:612138	PLEC	5339	HP:0001561	Polyhydramnios
OMIM:612138	PLEC	5339	HP:0001622	Premature birth
OMIM:612138	PLEC	5339	HP:0000007	Autosomal recessive inheritance
OMIM:612138	PLEC	5339	HP:0008872	Feeding difficulties in infancy
OMIM:612138	PLEC	5339	HP:0003577	Congenital onset
OMIM:612138	PLEC	5339	HP:0100806	Sepsis
OMIM:612138	PLEC	5339	HP:0000163	Abnormality of the oral cavity
OMIM:612138	PLEC	5339	HP:0000430	Underdeveloped nasal alae
OMIM:612138	PLEC	5339	HP:0001903	Anemia
OMIM:612138	ITGB4	3691	HP:0001376	Limitation of joint mobility
OMIM:612138	ITGB4	3691	HP:0002577	Abnormality of the stomach
OMIM:612138	ITGB4	3691	HP:0000490	Deeply set eye
OMIM:612138	ITGB4	3691	HP:0000366	Abnormality of the nose
OMIM:612138	ITGB4	3691	HP:0001371	Flexion contracture
OMIM:612138	ITGB4	3691	HP:0001030	Fragile skin
OMIM:612138	ITGB4	3691	HP:0001944	Dehydration
OMIM:612138	ITGB4	3691	HP:0008551	Microtia
OMIM:612138	ITGB4	3691	HP:0001561	Polyhydramnios
OMIM:612138	ITGB4	3691	HP:0001622	Premature birth
OMIM:612138	ITGB4	3691	HP:0000007	Autosomal recessive inheritance
OMIM:612138	ITGB4	3691	HP:0008872	Feeding difficulties in infancy
OMIM:612138	ITGB4	3691	HP:0003577	Congenital onset
OMIM:612138	ITGB4	3691	HP:0100806	Sepsis
OMIM:612138	ITGB4	3691	HP:0000163	Abnormality of the oral cavity
OMIM:612138	ITGB4	3691	HP:0000430	Underdeveloped nasal alae
OMIM:612138	ITGB4	3691	HP:0001903	Anemia
OMIM:309850	MAOA	4128	HP:0001417	X-linked inheritance
OMIM:309850	MAOA	4128	HP:0001256	Intellectual disability, mild
OMIM:309850	MAOA	4128	HP:0000718	Aggressive behavior
OMIM:211800	NT5E	4907	HP:0000925	Abnormality of the vertebral column
OMIM:211800	NT5E	4907	HP:0000007	Autosomal recessive inheritance
OMIM:211800	NT5E	4907	HP:0003207	Arterial calcification
OMIM:211800	NT5E	4907	HP:0001367	Abnormal joint morphology
ORPHANET:3322	ACD	65057	HP:0001276	Hypertonia
ORPHANET:3322	ACD	65057	HP:0011362	Abnormal hair quantity
ORPHANET:3322	ACD	65057	HP:0002120	Cerebral cortical atrophy
ORPHANET:3322	ACD	65057	HP:0005599	Hypopigmentation of hair
ORPHANET:3322	ACD	65057	HP:0010978	Abnormality of immune system physiology
ORPHANET:3322	ACD	65057	HP:0000252	Microcephaly
ORPHANET:3322	ACD	65057	HP:0004322	Short stature
ORPHANET:3322	ACD	65057	HP:0002514	Cerebral calcification
ORPHANET:3322	ACD	65057	HP:0007440	Generalized hyperpigmentation
ORPHANET:3322	ACD	65057	HP:0001928	Abnormality of coagulation
ORPHANET:3322	ACD	65057	HP:0001933	Subcutaneous hemorrhage
ORPHANET:3322	ACD	65057	HP:0001903	Anemia
ORPHANET:3322	ACD	65057	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:3322	ACD	65057	HP:0002119	Ventriculomegaly
ORPHANET:3322	ACD	65057	HP:0100543	Cognitive impairment
ORPHANET:3322	ACD	65057	HP:0001881	Abnormality of leukocytes
ORPHANET:3322	ACD	65057	HP:0001315	Reduced tendon reflexes
ORPHANET:3322	ACD	65057	HP:0005528	Bone marrow hypocellularity
ORPHANET:3322	ACD	65057	HP:0001597	Abnormality of the nail
ORPHANET:3322	ACD	65057	HP:0002664	Neoplasm
ORPHANET:3322	ACD	65057	HP:0002311	Incoordination
ORPHANET:3322	ACD	65057	HP:0001873	Thrombocytopenia
ORPHANET:3322	ACD	65057	HP:0000163	Abnormality of the oral cavity
ORPHANET:3322	ACD	65057	HP:0001511	Intrauterine growth retardation
ORPHANET:3322	PARN	5073	HP:0001276	Hypertonia
ORPHANET:3322	PARN	5073	HP:0011362	Abnormal hair quantity
ORPHANET:3322	PARN	5073	HP:0002120	Cerebral cortical atrophy
ORPHANET:3322	PARN	5073	HP:0005599	Hypopigmentation of hair
ORPHANET:3322	PARN	5073	HP:0010978	Abnormality of immune system physiology
ORPHANET:3322	PARN	5073	HP:0000252	Microcephaly
ORPHANET:3322	PARN	5073	HP:0004322	Short stature
ORPHANET:3322	PARN	5073	HP:0002514	Cerebral calcification
ORPHANET:3322	PARN	5073	HP:0007440	Generalized hyperpigmentation
ORPHANET:3322	PARN	5073	HP:0001928	Abnormality of coagulation
ORPHANET:3322	PARN	5073	HP:0001933	Subcutaneous hemorrhage
ORPHANET:3322	PARN	5073	HP:0001903	Anemia
ORPHANET:3322	PARN	5073	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:3322	PARN	5073	HP:0002119	Ventriculomegaly
ORPHANET:3322	PARN	5073	HP:0100543	Cognitive impairment
ORPHANET:3322	PARN	5073	HP:0001881	Abnormality of leukocytes
ORPHANET:3322	PARN	5073	HP:0001315	Reduced tendon reflexes
ORPHANET:3322	PARN	5073	HP:0005528	Bone marrow hypocellularity
ORPHANET:3322	PARN	5073	HP:0001597	Abnormality of the nail
ORPHANET:3322	PARN	5073	HP:0002664	Neoplasm
ORPHANET:3322	PARN	5073	HP:0002311	Incoordination
ORPHANET:3322	PARN	5073	HP:0001873	Thrombocytopenia
ORPHANET:3322	PARN	5073	HP:0000163	Abnormality of the oral cavity
ORPHANET:3322	PARN	5073	HP:0001511	Intrauterine growth retardation
ORPHANET:3322	TINF2	26277	HP:0001276	Hypertonia
ORPHANET:3322	TINF2	26277	HP:0011362	Abnormal hair quantity
ORPHANET:3322	TINF2	26277	HP:0002120	Cerebral cortical atrophy
ORPHANET:3322	TINF2	26277	HP:0005599	Hypopigmentation of hair
ORPHANET:3322	TINF2	26277	HP:0010978	Abnormality of immune system physiology
ORPHANET:3322	TINF2	26277	HP:0000252	Microcephaly
ORPHANET:3322	TINF2	26277	HP:0004322	Short stature
ORPHANET:3322	TINF2	26277	HP:0002514	Cerebral calcification
ORPHANET:3322	TINF2	26277	HP:0007440	Generalized hyperpigmentation
ORPHANET:3322	TINF2	26277	HP:0001928	Abnormality of coagulation
ORPHANET:3322	TINF2	26277	HP:0001933	Subcutaneous hemorrhage
ORPHANET:3322	TINF2	26277	HP:0001903	Anemia
ORPHANET:3322	TINF2	26277	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:3322	TINF2	26277	HP:0002119	Ventriculomegaly
ORPHANET:3322	TINF2	26277	HP:0100543	Cognitive impairment
ORPHANET:3322	TINF2	26277	HP:0001881	Abnormality of leukocytes
ORPHANET:3322	TINF2	26277	HP:0001315	Reduced tendon reflexes
ORPHANET:3322	TINF2	26277	HP:0005528	Bone marrow hypocellularity
ORPHANET:3322	TINF2	26277	HP:0001597	Abnormality of the nail
ORPHANET:3322	TINF2	26277	HP:0002664	Neoplasm
ORPHANET:3322	TINF2	26277	HP:0002311	Incoordination
ORPHANET:3322	TINF2	26277	HP:0001873	Thrombocytopenia
ORPHANET:3322	TINF2	26277	HP:0000163	Abnormality of the oral cavity
ORPHANET:3322	TINF2	26277	HP:0001511	Intrauterine growth retardation
ORPHANET:3322	RTEL1	51750	HP:0001276	Hypertonia
ORPHANET:3322	RTEL1	51750	HP:0011362	Abnormal hair quantity
ORPHANET:3322	RTEL1	51750	HP:0002120	Cerebral cortical atrophy
ORPHANET:3322	RTEL1	51750	HP:0005599	Hypopigmentation of hair
ORPHANET:3322	RTEL1	51750	HP:0010978	Abnormality of immune system physiology
ORPHANET:3322	RTEL1	51750	HP:0000252	Microcephaly
ORPHANET:3322	RTEL1	51750	HP:0004322	Short stature
ORPHANET:3322	RTEL1	51750	HP:0002514	Cerebral calcification
ORPHANET:3322	RTEL1	51750	HP:0007440	Generalized hyperpigmentation
ORPHANET:3322	RTEL1	51750	HP:0001928	Abnormality of coagulation
ORPHANET:3322	RTEL1	51750	HP:0001933	Subcutaneous hemorrhage
ORPHANET:3322	RTEL1	51750	HP:0001903	Anemia
ORPHANET:3322	RTEL1	51750	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:3322	RTEL1	51750	HP:0002119	Ventriculomegaly
ORPHANET:3322	RTEL1	51750	HP:0100543	Cognitive impairment
ORPHANET:3322	RTEL1	51750	HP:0001881	Abnormality of leukocytes
ORPHANET:3322	RTEL1	51750	HP:0001315	Reduced tendon reflexes
ORPHANET:3322	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
ORPHANET:3322	RTEL1	51750	HP:0001597	Abnormality of the nail
ORPHANET:3322	RTEL1	51750	HP:0002664	Neoplasm
ORPHANET:3322	RTEL1	51750	HP:0002311	Incoordination
ORPHANET:3322	RTEL1	51750	HP:0001873	Thrombocytopenia
ORPHANET:3322	RTEL1	51750	HP:0000163	Abnormality of the oral cavity
ORPHANET:3322	RTEL1	51750	HP:0001511	Intrauterine growth retardation
ORPHANET:3322	TERT	7015	HP:0001276	Hypertonia
ORPHANET:3322	TERT	7015	HP:0011362	Abnormal hair quantity
ORPHANET:3322	TERT	7015	HP:0002120	Cerebral cortical atrophy
ORPHANET:3322	TERT	7015	HP:0005599	Hypopigmentation of hair
ORPHANET:3322	TERT	7015	HP:0010978	Abnormality of immune system physiology
ORPHANET:3322	TERT	7015	HP:0000252	Microcephaly
ORPHANET:3322	TERT	7015	HP:0004322	Short stature
ORPHANET:3322	TERT	7015	HP:0002514	Cerebral calcification
ORPHANET:3322	TERT	7015	HP:0007440	Generalized hyperpigmentation
ORPHANET:3322	TERT	7015	HP:0001928	Abnormality of coagulation
ORPHANET:3322	TERT	7015	HP:0001933	Subcutaneous hemorrhage
ORPHANET:3322	TERT	7015	HP:0001903	Anemia
ORPHANET:3322	TERT	7015	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:3322	TERT	7015	HP:0002119	Ventriculomegaly
ORPHANET:3322	TERT	7015	HP:0100543	Cognitive impairment
ORPHANET:3322	TERT	7015	HP:0001881	Abnormality of leukocytes
ORPHANET:3322	TERT	7015	HP:0001315	Reduced tendon reflexes
ORPHANET:3322	TERT	7015	HP:0005528	Bone marrow hypocellularity
ORPHANET:3322	TERT	7015	HP:0001597	Abnormality of the nail
ORPHANET:3322	TERT	7015	HP:0002664	Neoplasm
ORPHANET:3322	TERT	7015	HP:0002311	Incoordination
ORPHANET:3322	TERT	7015	HP:0001873	Thrombocytopenia
ORPHANET:3322	TERT	7015	HP:0000163	Abnormality of the oral cavity
ORPHANET:3322	TERT	7015	HP:0001511	Intrauterine growth retardation
ORPHANET:3322	DKC1	1736	HP:0001276	Hypertonia
ORPHANET:3322	DKC1	1736	HP:0011362	Abnormal hair quantity
ORPHANET:3322	DKC1	1736	HP:0002120	Cerebral cortical atrophy
ORPHANET:3322	DKC1	1736	HP:0005599	Hypopigmentation of hair
ORPHANET:3322	DKC1	1736	HP:0010978	Abnormality of immune system physiology
ORPHANET:3322	DKC1	1736	HP:0000252	Microcephaly
ORPHANET:3322	DKC1	1736	HP:0004322	Short stature
ORPHANET:3322	DKC1	1736	HP:0002514	Cerebral calcification
ORPHANET:3322	DKC1	1736	HP:0007440	Generalized hyperpigmentation
ORPHANET:3322	DKC1	1736	HP:0001928	Abnormality of coagulation
ORPHANET:3322	DKC1	1736	HP:0001933	Subcutaneous hemorrhage
ORPHANET:3322	DKC1	1736	HP:0001903	Anemia
ORPHANET:3322	DKC1	1736	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:3322	DKC1	1736	HP:0002119	Ventriculomegaly
ORPHANET:3322	DKC1	1736	HP:0100543	Cognitive impairment
ORPHANET:3322	DKC1	1736	HP:0001881	Abnormality of leukocytes
ORPHANET:3322	DKC1	1736	HP:0001315	Reduced tendon reflexes
ORPHANET:3322	DKC1	1736	HP:0005528	Bone marrow hypocellularity
ORPHANET:3322	DKC1	1736	HP:0001597	Abnormality of the nail
ORPHANET:3322	DKC1	1736	HP:0002664	Neoplasm
ORPHANET:3322	DKC1	1736	HP:0002311	Incoordination
ORPHANET:3322	DKC1	1736	HP:0001873	Thrombocytopenia
ORPHANET:3322	DKC1	1736	HP:0000163	Abnormality of the oral cavity
ORPHANET:3322	DKC1	1736	HP:0001511	Intrauterine growth retardation
OMIM:615387	TRAC	28755	HP:0003593	Infantile onset
OMIM:615387	TRAC	28755	HP:0002960	Autoimmunity
OMIM:615387	TRAC	28755	HP:0002716	Lymphadenopathy
OMIM:615387	TRAC	28755	HP:0002719	Recurrent infections
OMIM:615387	TRAC	28755	HP:0001508	Failure to thrive
OMIM:615387	TRAC	28755	HP:0000007	Autosomal recessive inheritance
OMIM:607095	RMRP	6023	HP:0000007	Autosomal recessive inheritance
OMIM:607095	RMRP	6023	HP:0000316	Hypertelorism
OMIM:607095	RMRP	6023	HP:0000668	Hypodontia
OMIM:607095	RMRP	6023	HP:0000926	Platyspondyly
OMIM:607095	RMRP	6023	HP:0003015	Flared metaphysis
OMIM:607095	RMRP	6023	HP:0000946	Hypoplastic ilia
OMIM:607095	RMRP	6023	HP:0001216	Delayed ossification of carpal bones
OMIM:607095	RMRP	6023	HP:0001156	Brachydactyly syndrome
OMIM:607095	RMRP	6023	HP:0001831	Short toe
OMIM:607095	RMRP	6023	HP:0008905	Rhizomelia
OMIM:607095	RMRP	6023	HP:0000470	Short neck
OMIM:607095	RMRP	6023	HP:0001249	Intellectual disability
OMIM:607095	RMRP	6023	HP:0009381	Short finger
OMIM:607095	POP1	10940	HP:0000007	Autosomal recessive inheritance
OMIM:607095	POP1	10940	HP:0000316	Hypertelorism
OMIM:607095	POP1	10940	HP:0000668	Hypodontia
OMIM:607095	POP1	10940	HP:0000926	Platyspondyly
OMIM:607095	POP1	10940	HP:0003015	Flared metaphysis
OMIM:607095	POP1	10940	HP:0000946	Hypoplastic ilia
OMIM:607095	POP1	10940	HP:0001216	Delayed ossification of carpal bones
OMIM:607095	POP1	10940	HP:0001156	Brachydactyly syndrome
OMIM:607095	POP1	10940	HP:0001831	Short toe
OMIM:607095	POP1	10940	HP:0008905	Rhizomelia
OMIM:607095	POP1	10940	HP:0000470	Short neck
OMIM:607095	POP1	10940	HP:0001249	Intellectual disability
OMIM:607095	POP1	10940	HP:0009381	Short finger
OMIM:613722	PLCB1	23236	HP:0001347	Hyperreflexia
OMIM:613722	PLCB1	23236	HP:0007359	Focal seizures
OMIM:613722	PLCB1	23236	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	PLCB1	23236	HP:0200134	Epileptic encephalopathy
OMIM:613722	PLCB1	23236	HP:0000007	Autosomal recessive inheritance
OMIM:613722	PLCB1	23236	HP:0002521	Hypsarrhythmia
OMIM:613722	PLCB1	23236	HP:0001257	Spasticity
OMIM:613722	PLCB1	23236	HP:0002197	Generalized seizures
OMIM:613722	SLC25A22	79751	HP:0001347	Hyperreflexia
OMIM:613722	SLC25A22	79751	HP:0007359	Focal seizures
OMIM:613722	SLC25A22	79751	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:613722	SLC25A22	79751	HP:0000007	Autosomal recessive inheritance
OMIM:613722	SLC25A22	79751	HP:0002521	Hypsarrhythmia
OMIM:613722	SLC25A22	79751	HP:0001257	Spasticity
OMIM:613722	SLC25A22	79751	HP:0002197	Generalized seizures
OMIM:613722	CDKL5	6792	HP:0001347	Hyperreflexia
OMIM:613722	CDKL5	6792	HP:0007359	Focal seizures
OMIM:613722	CDKL5	6792	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:613722	CDKL5	6792	HP:0000007	Autosomal recessive inheritance
OMIM:613722	CDKL5	6792	HP:0002521	Hypsarrhythmia
OMIM:613722	CDKL5	6792	HP:0001257	Spasticity
OMIM:613722	CDKL5	6792	HP:0002197	Generalized seizures
OMIM:613722	SIK1	150094	HP:0001347	Hyperreflexia
OMIM:613722	SIK1	150094	HP:0007359	Focal seizures
OMIM:613722	SIK1	150094	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:613722	SIK1	150094	HP:0000007	Autosomal recessive inheritance
OMIM:613722	SIK1	150094	HP:0002521	Hypsarrhythmia
OMIM:613722	SIK1	150094	HP:0001257	Spasticity
OMIM:613722	SIK1	150094	HP:0002197	Generalized seizures
OMIM:613722	KCNT1	57582	HP:0001347	Hyperreflexia
OMIM:613722	KCNT1	57582	HP:0007359	Focal seizures
OMIM:613722	KCNT1	57582	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	KCNT1	57582	HP:0200134	Epileptic encephalopathy
OMIM:613722	KCNT1	57582	HP:0000007	Autosomal recessive inheritance
OMIM:613722	KCNT1	57582	HP:0002521	Hypsarrhythmia
OMIM:613722	KCNT1	57582	HP:0001257	Spasticity
OMIM:613722	KCNT1	57582	HP:0002197	Generalized seizures
OMIM:613722	SCN1A	6323	HP:0001347	Hyperreflexia
OMIM:613722	SCN1A	6323	HP:0007359	Focal seizures
OMIM:613722	SCN1A	6323	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	SCN1A	6323	HP:0200134	Epileptic encephalopathy
OMIM:613722	SCN1A	6323	HP:0000007	Autosomal recessive inheritance
OMIM:613722	SCN1A	6323	HP:0002521	Hypsarrhythmia
OMIM:613722	SCN1A	6323	HP:0001257	Spasticity
OMIM:613722	SCN1A	6323	HP:0002197	Generalized seizures
OMIM:613722	SPTAN1	6709	HP:0001347	Hyperreflexia
OMIM:613722	SPTAN1	6709	HP:0007359	Focal seizures
OMIM:613722	SPTAN1	6709	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	SPTAN1	6709	HP:0200134	Epileptic encephalopathy
OMIM:613722	SPTAN1	6709	HP:0000007	Autosomal recessive inheritance
OMIM:613722	SPTAN1	6709	HP:0002521	Hypsarrhythmia
OMIM:613722	SPTAN1	6709	HP:0001257	Spasticity
OMIM:613722	SPTAN1	6709	HP:0002197	Generalized seizures
OMIM:613722	SCN2A	6326	HP:0001347	Hyperreflexia
OMIM:613722	SCN2A	6326	HP:0007359	Focal seizures
OMIM:613722	SCN2A	6326	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:613722	SCN2A	6326	HP:0000007	Autosomal recessive inheritance
OMIM:613722	SCN2A	6326	HP:0002521	Hypsarrhythmia
OMIM:613722	SCN2A	6326	HP:0001257	Spasticity
OMIM:613722	SCN2A	6326	HP:0002197	Generalized seizures
OMIM:613722	ST3GAL3	6487	HP:0001347	Hyperreflexia
OMIM:613722	ST3GAL3	6487	HP:0007359	Focal seizures
OMIM:613722	ST3GAL3	6487	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	ST3GAL3	6487	HP:0200134	Epileptic encephalopathy
OMIM:613722	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:613722	ST3GAL3	6487	HP:0002521	Hypsarrhythmia
OMIM:613722	ST3GAL3	6487	HP:0001257	Spasticity
OMIM:613722	ST3GAL3	6487	HP:0002197	Generalized seizures
OMIM:613722	GRIN2B	2904	HP:0001347	Hyperreflexia
OMIM:613722	GRIN2B	2904	HP:0007359	Focal seizures
OMIM:613722	GRIN2B	2904	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	GRIN2B	2904	HP:0200134	Epileptic encephalopathy
OMIM:613722	GRIN2B	2904	HP:0000007	Autosomal recessive inheritance
OMIM:613722	GRIN2B	2904	HP:0002521	Hypsarrhythmia
OMIM:613722	GRIN2B	2904	HP:0001257	Spasticity
OMIM:613722	GRIN2B	2904	HP:0002197	Generalized seizures
OMIM:613722	TBC1D24	57465	HP:0001347	Hyperreflexia
OMIM:613722	TBC1D24	57465	HP:0007359	Focal seizures
OMIM:613722	TBC1D24	57465	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	TBC1D24	57465	HP:0200134	Epileptic encephalopathy
OMIM:613722	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:613722	TBC1D24	57465	HP:0002521	Hypsarrhythmia
OMIM:613722	TBC1D24	57465	HP:0001257	Spasticity
OMIM:613722	TBC1D24	57465	HP:0002197	Generalized seizures
OMIM:613722	SLC12A5	57468	HP:0001347	Hyperreflexia
OMIM:613722	SLC12A5	57468	HP:0007359	Focal seizures
OMIM:613722	SLC12A5	57468	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	SLC12A5	57468	HP:0200134	Epileptic encephalopathy
OMIM:613722	SLC12A5	57468	HP:0000007	Autosomal recessive inheritance
OMIM:613722	SLC12A5	57468	HP:0002521	Hypsarrhythmia
OMIM:613722	SLC12A5	57468	HP:0001257	Spasticity
OMIM:613722	SLC12A5	57468	HP:0002197	Generalized seizures
OMIM:613722	ARX	170302	HP:0001347	Hyperreflexia
OMIM:613722	ARX	170302	HP:0007359	Focal seizures
OMIM:613722	ARX	170302	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:613722	ARX	170302	HP:0000007	Autosomal recessive inheritance
OMIM:613722	ARX	170302	HP:0002521	Hypsarrhythmia
OMIM:613722	ARX	170302	HP:0001257	Spasticity
OMIM:613722	ARX	170302	HP:0002197	Generalized seizures
OMIM:613722	PIGA	5277	HP:0001347	Hyperreflexia
OMIM:613722	PIGA	5277	HP:0007359	Focal seizures
OMIM:613722	PIGA	5277	HP:0008936	Muscular hypotonia of the trunk
OMIM:613722	PIGA	5277	HP:0200134	Epileptic encephalopathy
OMIM:613722	PIGA	5277	HP:0000007	Autosomal recessive inheritance
OMIM:613722	PIGA	5277	HP:0002521	Hypsarrhythmia
OMIM:613722	PIGA	5277	HP:0001257	Spasticity
OMIM:613722	PIGA	5277	HP:0002197	Generalized seizures
OMIM:180860	H19	283120	HP:0002007	Frontal bossing
OMIM:180860	H19	283120	HP:0000270	Delayed cranial suture closure
OMIM:180860	H19	283120	HP:0003745	Sporadic
OMIM:180860	H19	283120	HP:0001626	Abnormality of the cardiovascular system
OMIM:180860	H19	283120	HP:0001159	Syndactyly
OMIM:180860	H19	283120	HP:0000069	Abnormality of the ureter
OMIM:180860	H19	283120	HP:0000592	Blue sclerae
OMIM:180860	H19	283120	HP:0000957	Cafe-au-lait spot
OMIM:180860	H19	283120	HP:0000347	Micrognathia
OMIM:180860	H19	283120	HP:0001263	Global developmental delay
OMIM:180860	H19	283120	HP:0000824	Growth hormone deficiency
OMIM:180860	H19	283120	HP:0004227	Short distal phalanx of the 5th finger
OMIM:180860	H19	283120	HP:0001518	Small for gestational age
OMIM:180860	H19	283120	HP:0004220	Short middle phalanx of the 5th finger
OMIM:180860	H19	283120	HP:0001511	Intrauterine growth retardation
OMIM:180860	H19	283120	HP:0004209	Clinodactyly of the 5th finger
OMIM:180860	H19	283120	HP:0001760	Abnormality of the foot
OMIM:180860	H19	283120	HP:0000047	Hypospadias
OMIM:180860	H19	283120	HP:0002750	Delayed skeletal maturation
OMIM:180860	H19	283120	HP:0000325	Triangular face
OMIM:180860	H19	283120	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:180860	H19	283120	HP:0002714	Downturned corners of mouth
OMIM:614455	INF2	64423	HP:0003376	Steppage gait
OMIM:614455	INF2	64423	HP:0001265	Hyporeflexia
OMIM:614455	INF2	64423	HP:0001761	Pes cavus
OMIM:614455	INF2	64423	HP:0002460	Distal muscle weakness
OMIM:614455	INF2	64423	HP:0003774	Stage 5 chronic kidney disease
OMIM:614455	INF2	64423	HP:0000097	Focal segmental glomerulosclerosis
OMIM:614455	INF2	64423	HP:0001171	Split hand
OMIM:614455	INF2	64423	HP:0001765	Hammertoe
OMIM:614455	INF2	64423	HP:0009027	Foot dorsiflexor weakness
OMIM:614455	INF2	64423	HP:0001284	Areflexia
OMIM:614455	INF2	64423	HP:0008944	Distal lower limb amyotrophy
OMIM:614455	INF2	64423	HP:0003676	Progressive
OMIM:614455	INF2	64423	HP:0000006	Autosomal dominant inheritance
OMIM:614455	INF2	64423	HP:0000093	Proteinuria
OMIM:614455	INF2	64423	HP:0003383	Onion bulb formation
OMIM:614455	INF2	64423	HP:0007149	Distal upper limb amyotrophy
OMIM:614455	INF2	64423	HP:0002936	Distal sensory impairment
OMIM:260920	MVK	4598	HP:0002027	Abdominal pain
OMIM:260920	MVK	4598	HP:0002716	Lymphadenopathy
OMIM:260920	MVK	4598	HP:0010701	Abnormal immunoglobulin level
OMIM:260920	MVK	4598	HP:0002014	Diarrhea
OMIM:260920	MVK	4598	HP:0001034	Hypermelanotic macule
OMIM:260920	MVK	4598	HP:0001250	Seizures
OMIM:260920	MVK	4598	HP:0005214	Intestinal obstruction
OMIM:260920	MVK	4598	HP:0001933	Subcutaneous hemorrhage
OMIM:260920	MVK	4598	HP:0000988	Skin rash
OMIM:260920	MVK	4598	HP:0000510	Rod-cone dystrophy
OMIM:260920	MVK	4598	HP:0002013	Vomiting
OMIM:260920	MVK	4598	HP:0000163	Abnormality of the oral cavity
OMIM:260920	MVK	4598	HP:0002321	Vertigo
OMIM:260920	MVK	4598	HP:0000662	Nyctalopia
OMIM:260920	MVK	4598	HP:0001974	Leukocytosis
OMIM:260920	MVK	4598	HP:0002633	Vasculitis
OMIM:260920	MVK	4598	HP:0001744	Splenomegaly
OMIM:260920	MVK	4598	HP:0002076	Migraine
OMIM:260920	MVK	4598	HP:0000543	Optic disc pallor
OMIM:260920	MVK	4598	HP:0001369	Arthritis
OMIM:260920	MVK	4598	HP:0001376	Limitation of joint mobility
OMIM:260920	MVK	4598	HP:0000007	Autosomal recessive inheritance
OMIM:260920	MVK	4598	HP:0002240	Hepatomegaly
OMIM:260920	MVK	4598	HP:0002315	Headache
OMIM:260920	MVK	4598	HP:0002829	Arthralgia
OMIM:260920	MVK	4598	HP:0003326	Myalgia
OMIM:260920	MVK	4598	HP:0002311	Incoordination
OMIM:260920	MVK	4598	HP:0004370	Abnormality of temperature regulation
OMIM:260920	MVK	4598	HP:0100543	Cognitive impairment
OMIM:260920	MVK	4598	HP:0001063	Acrocyanosis
OMIM:260920	MVK	4598	HP:0002239	Gastrointestinal hemorrhage
OMIM:260920	MVK	4598	HP:0001025	Urticaria
ORPHANET:782	FOXC1	2296	HP:0100627	Displacement of the external urethral meatus
ORPHANET:782	FOXC1	2296	HP:0000627	Posterior embryotoxon
ORPHANET:782	FOXC1	2296	HP:0009804	Reduced number of teeth
ORPHANET:782	FOXC1	2296	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:782	FOXC1	2296	HP:0005280	Depressed nasal bridge
ORPHANET:782	FOXC1	2296	HP:0000365	Hearing impairment
ORPHANET:782	FOXC1	2296	HP:0000593	Abnormality of the anterior chamber
ORPHANET:782	FOXC1	2296	HP:0000973	Cutis laxa
ORPHANET:782	FOXC1	2296	HP:0100589	Urogenital fistula
ORPHANET:782	FOXC1	2296	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:782	FOXC1	2296	HP:0000232	Everted lower lip vermilion
ORPHANET:782	FOXC1	2296	HP:0000272	Malar flattening
ORPHANET:782	FOXC1	2296	HP:0000506	Telecanthus
ORPHANET:782	FOXC1	2296	HP:0002007	Frontal bossing
ORPHANET:782	FOXC1	2296	HP:0000316	Hypertelorism
ORPHANET:782	FOXC1	2296	HP:0000691	Microdontia
ORPHANET:782	FOXC1	2296	HP:0000501	Glaucoma
ORPHANET:782	PITX2	5308	HP:0100627	Displacement of the external urethral meatus
ORPHANET:782	PITX2	5308	HP:0000627	Posterior embryotoxon
ORPHANET:782	PITX2	5308	HP:0009804	Reduced number of teeth
ORPHANET:782	PITX2	5308	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:782	PITX2	5308	HP:0005280	Depressed nasal bridge
ORPHANET:782	PITX2	5308	HP:0000365	Hearing impairment
ORPHANET:782	PITX2	5308	HP:0000593	Abnormality of the anterior chamber
ORPHANET:782	PITX2	5308	HP:0000973	Cutis laxa
ORPHANET:782	PITX2	5308	HP:0100589	Urogenital fistula
ORPHANET:782	PITX2	5308	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:782	PITX2	5308	HP:0000232	Everted lower lip vermilion
ORPHANET:782	PITX2	5308	HP:0000272	Malar flattening
ORPHANET:782	PITX2	5308	HP:0000506	Telecanthus
ORPHANET:782	PITX2	5308	HP:0002007	Frontal bossing
ORPHANET:782	PITX2	5308	HP:0000316	Hypertelorism
ORPHANET:782	PITX2	5308	HP:0000691	Microdontia
ORPHANET:782	PITX2	5308	HP:0000501	Glaucoma
OMIM:602522	BSND	7809	HP:0001265	Hyporeflexia
OMIM:602522	BSND	7809	HP:0001561	Polyhydramnios
OMIM:602522	BSND	7809	HP:0003577	Congenital onset
OMIM:602522	BSND	7809	HP:0000969	Edema
OMIM:602522	BSND	7809	HP:0001270	Motor delay
OMIM:602522	BSND	7809	HP:0001425	Heterogeneous
OMIM:602522	BSND	7809	HP:0001249	Intellectual disability
OMIM:602522	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:602522	BSND	7809	HP:0001789	Hydrops fetalis
OMIM:602522	BSND	7809	HP:0001508	Failure to thrive
OMIM:602522	BSND	7809	HP:0001622	Premature birth
OMIM:602522	BSND	7809	HP:0000083	Renal insufficiency
OMIM:602522	BSND	7809	HP:0001252	Muscular hypotonia
OMIM:602522	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:602522	CLCNKA	1187	HP:0001265	Hyporeflexia
OMIM:602522	CLCNKA	1187	HP:0001561	Polyhydramnios
OMIM:602522	CLCNKA	1187	HP:0003577	Congenital onset
OMIM:602522	CLCNKA	1187	HP:0000969	Edema
OMIM:602522	CLCNKA	1187	HP:0001270	Motor delay
OMIM:602522	CLCNKA	1187	HP:0001425	Heterogeneous
OMIM:602522	CLCNKA	1187	HP:0001249	Intellectual disability
OMIM:602522	CLCNKA	1187	HP:0000007	Autosomal recessive inheritance
OMIM:602522	CLCNKA	1187	HP:0001789	Hydrops fetalis
OMIM:602522	CLCNKA	1187	HP:0001508	Failure to thrive
OMIM:602522	CLCNKA	1187	HP:0001622	Premature birth
OMIM:602522	CLCNKA	1187	HP:0000083	Renal insufficiency
OMIM:602522	CLCNKA	1187	HP:0001252	Muscular hypotonia
OMIM:602522	CLCNKA	1187	HP:0000407	Sensorineural hearing impairment
OMIM:602522	CLCNKB	1188	HP:0001265	Hyporeflexia
OMIM:602522	CLCNKB	1188	HP:0001561	Polyhydramnios
OMIM:602522	CLCNKB	1188	HP:0003577	Congenital onset
OMIM:602522	CLCNKB	1188	HP:0000969	Edema
OMIM:602522	CLCNKB	1188	HP:0001270	Motor delay
OMIM:602522	CLCNKB	1188	HP:0001425	Heterogeneous
OMIM:602522	CLCNKB	1188	HP:0001249	Intellectual disability
OMIM:602522	CLCNKB	1188	HP:0000007	Autosomal recessive inheritance
OMIM:602522	CLCNKB	1188	HP:0001789	Hydrops fetalis
OMIM:602522	CLCNKB	1188	HP:0001508	Failure to thrive
OMIM:602522	CLCNKB	1188	HP:0001622	Premature birth
OMIM:602522	CLCNKB	1188	HP:0000083	Renal insufficiency
OMIM:602522	CLCNKB	1188	HP:0001252	Muscular hypotonia
OMIM:602522	CLCNKB	1188	HP:0000407	Sensorineural hearing impairment
OMIM:148700	DSG1	1828	HP:0000982	Palmoplantar keratoderma
OMIM:148700	DSG1	1828	HP:0000006	Autosomal dominant inheritance
OMIM:148700	DSG1	1828	HP:0000975	Hyperhidrosis
OMIM:148700	DSP	1832	HP:0000982	Palmoplantar keratoderma
OMIM:148700	DSP	1832	HP:0000006	Autosomal dominant inheritance
OMIM:148700	DSP	1832	HP:0000975	Hyperhidrosis
OMIM:148700	KRT1	3848	HP:0000982	Palmoplantar keratoderma
OMIM:148700	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:148700	KRT1	3848	HP:0000975	Hyperhidrosis
OMIM:200600	TRIP11	9321	HP:0001831	Short toe
OMIM:200600	TRIP11	9321	HP:0003521	Disproportionate short-trunk short stature
OMIM:200600	TRIP11	9321	HP:0000256	Macrocephaly
OMIM:200600	TRIP11	9321	HP:0010675	Abnormal foot bone ossification
OMIM:200600	TRIP11	9321	HP:0001561	Polyhydramnios
OMIM:200600	TRIP11	9321	HP:0010660	Abnormal hand bone ossification
OMIM:200600	TRIP11	9321	HP:0004331	Decreased skull ossification
OMIM:200600	TRIP11	9321	HP:0000470	Short neck
OMIM:200600	TRIP11	9321	HP:0002984	Hypoplasia of the radius
OMIM:200600	TRIP11	9321	HP:0004348	Abnormality of bone mineral density
OMIM:200600	TRIP11	9321	HP:0000272	Malar flattening
OMIM:200600	TRIP11	9321	HP:0004606	Unossified vertebral bodies
OMIM:200600	TRIP11	9321	HP:0000463	Anteverted nares
OMIM:200600	TRIP11	9321	HP:0001789	Hydrops fetalis
OMIM:200600	TRIP11	9321	HP:0000882	Hypoplastic scapulae
OMIM:200600	TRIP11	9321	HP:0003196	Short nose
OMIM:200600	TRIP11	9321	HP:0002652	Skeletal dysplasia
OMIM:200600	TRIP11	9321	HP:0000476	Cystic hygroma
OMIM:200600	TRIP11	9321	HP:0002983	Micromelia
OMIM:200600	TRIP11	9321	HP:0000916	Broad clavicles
OMIM:200600	TRIP11	9321	HP:0002757	Recurrent fractures
OMIM:200600	TRIP11	9321	HP:0000007	Autosomal recessive inheritance
OMIM:200600	TRIP11	9321	HP:0000343	Long philtrum
OMIM:200600	TRIP11	9321	HP:0001156	Brachydactyly syndrome
OMIM:200600	TRIP11	9321	HP:0001537	Umbilical hernia
OMIM:200600	TRIP11	9321	HP:0001538	Protuberant abdomen
OMIM:200600	TRIP11	9321	HP:0000474	Thickened nuchal skin fold
OMIM:200600	TRIP11	9321	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:200600	TRIP11	9321	HP:0000774	Narrow chest
OMIM:200600	TRIP11	9321	HP:0003826	Stillbirth
OMIM:200600	TRIP11	9321	HP:0002007	Frontal bossing
OMIM:200600	TRIP11	9321	HP:0005280	Depressed nasal bridge
OMIM:200600	TRIP11	9321	HP:0010306	Short thorax
OMIM:200600	TRIP11	9321	HP:0000347	Micrognathia
OMIM:200600	TRIP11	9321	HP:0001552	Barrel-shaped chest
OMIM:200600	TRIP11	9321	HP:0000894	Short clavicles
OMIM:200600	TRIP11	9321	HP:0000923	Beaded ribs
OMIM:200600	TRIP11	9321	HP:0006489	Abnormality of the femoral metaphysis
OMIM:200600	TRIP11	9321	HP:0000773	Short ribs
OMIM:200600	TRIP11	9321	HP:0003175	Hypoplastic ischia
OMIM:608890	SOX10	6663	HP:0000007	Autosomal recessive inheritance
OMIM:608890	SOX10	6663	HP:0001425	Heterogeneous
OMIM:608890	SOX10	6663	HP:0008527	Congenital sensorineural hearing impairment
OMIM:608890	SOX10	6663	HP:0000506	Telecanthus
OMIM:608890	SOX10	6663	HP:0001100	Heterochromia iridis
OMIM:608890	MITF	4286	HP:0000007	Autosomal recessive inheritance
OMIM:608890	MITF	4286	HP:0001425	Heterogeneous
OMIM:608890	MITF	4286	HP:0008527	Congenital sensorineural hearing impairment
OMIM:608890	MITF	4286	HP:0000506	Telecanthus
OMIM:608890	MITF	4286	HP:0001100	Heterochromia iridis
OMIM:608890	SNAI2	6591	HP:0000007	Autosomal recessive inheritance
OMIM:608890	SNAI2	6591	HP:0001425	Heterogeneous
OMIM:608890	SNAI2	6591	HP:0008527	Congenital sensorineural hearing impairment
OMIM:608890	SNAI2	6591	HP:0000506	Telecanthus
OMIM:608890	SNAI2	6591	HP:0001100	Heterochromia iridis
OMIM:616029	GRHL2	79977	HP:0000962	Hyperkeratosis
OMIM:616029	GRHL2	79977	HP:0000668	Hypodontia
OMIM:616029	GRHL2	79977	HP:0001798	Anonychia
OMIM:616029	GRHL2	79977	HP:0002099	Asthma
OMIM:616029	GRHL2	79977	HP:0006297	Hypoplasia of dental enamel
OMIM:616029	GRHL2	79977	HP:0002015	Dysphagia
OMIM:616029	GRHL2	79977	HP:0008404	Nail dystrophy
OMIM:616029	GRHL2	79977	HP:0004322	Short stature
OMIM:116700	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:116700	CRYBA2	1412	HP:0010700	Total cataract
OMIM:116700	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:116700	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:116700	AGK	55750	HP:0010700	Total cataract
OMIM:116700	AGK	55750	HP:0000519	Congenital cataract
OMIM:116700	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:116700	GCNT2	2651	HP:0010700	Total cataract
OMIM:116700	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:611067	PLEKHG5	57449	HP:0009473	Joint contracture of the hand
OMIM:611067	PLEKHG5	57449	HP:0000007	Autosomal recessive inheritance
OMIM:611067	PLEKHG5	57449	HP:0001284	Areflexia
OMIM:611067	PLEKHG5	57449	HP:0002460	Distal muscle weakness
OMIM:611067	PLEKHG5	57449	HP:0002515	Waddling gait
OMIM:611067	PLEKHG5	57449	HP:0011463	Childhood onset
OMIM:611067	PLEKHG5	57449	HP:0003678	Rapidly progressive
OMIM:611067	PLEKHG5	57449	HP:0003693	Distal amyotrophy
OMIM:611067	PLEKHG5	57449	HP:0002650	Scoliosis
OMIM:611067	PLEKHG5	57449	HP:0003445	EMG: neuropathic changes
OMIM:611067	PLEKHG5	57449	HP:0007269	Spinal muscular atrophy
OMIM:611067	PLEKHG5	57449	HP:0001762	Talipes equinovarus
OMIM:611067	PLEKHG5	57449	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:611067	PLEKHG5	57449	HP:0002355	Difficulty walking
OMIM:611067	PLEKHG5	57449	HP:0003307	Hyperlordosis
OMIM:611067	PLEKHG5	57449	HP:0003701	Proximal muscle weakness
OMIM:611067	PLEKHG5	57449	HP:0002366	Abnormal lower motor neuron morphology
OMIM:264600	SRD5A2	6716	HP:0000062	Ambiguous genitalia
OMIM:264600	SRD5A2	6716	HP:0001595	Abnormality of the hair
OMIM:264600	SRD5A2	6716	HP:0008736	Hypoplasia of penis
OMIM:264600	SRD5A2	6716	HP:0000048	Bifid scrotum
OMIM:264600	SRD5A2	6716	HP:0000818	Abnormality of the endocrine system
OMIM:264600	SRD5A2	6716	HP:0100779	Urogenital sinus anomaly
OMIM:264600	SRD5A2	6716	HP:0000028	Cryptorchidism
OMIM:264600	SRD5A2	6716	HP:0100627	Displacement of the external urethral meatus
OMIM:264600	SRD5A2	6716	HP:0000037	Male pseudohermaphroditism
OMIM:264600	SRD5A2	6716	HP:0000007	Autosomal recessive inheritance
OMIM:264600	SRD5A2	6716	HP:0000054	Micropenis
OMIM:264600	SRD5A2	6716	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:264600	SRD5A2	6716	HP:0001608	Abnormality of the voice
OMIM:264600	SRD5A2	6716	HP:0000051	Perineal hypospadias
OMIM:264600	SRD5A2	6716	HP:0000144	Decreased fertility
OMIM:264600	SRD5A2	6716	HP:0000046	Scrotal hypoplasia
OMIM:264600	SRD5A2	6716	HP:0003812	Phenotypic variability
OMIM:256730	PPT1	5538	HP:0001263	Global developmental delay
OMIM:256730	PPT1	5538	HP:0001336	Myoclonus
OMIM:256730	PPT1	5538	HP:0000608	Macular degeneration
OMIM:256730	PPT1	5538	HP:0001257	Spasticity
OMIM:256730	PPT1	5538	HP:0000007	Autosomal recessive inheritance
OMIM:256730	PPT1	5538	HP:0000529	Progressive visual loss
OMIM:256730	PPT1	5538	HP:0002059	Cerebral atrophy
OMIM:256730	PPT1	5538	HP:0002371	Loss of speech
OMIM:256730	PPT1	5538	HP:0000253	Progressive microcephaly
OMIM:256730	PPT1	5538	HP:0001250	Seizures
OMIM:256730	PPT1	5538	HP:0000648	Optic atrophy
OMIM:256730	PPT1	5538	HP:0001251	Ataxia
OMIM:256730	PPT1	5538	HP:0000716	Depression
OMIM:256730	PPT1	5538	HP:0000546	Retinal degeneration
OMIM:256730	PPT1	5538	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:256730	PPT1	5538	HP:0001371	Flexion contracture
OMIM:256730	PPT1	5538	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:256730	PPT1	5538	HP:0001252	Muscular hypotonia
OMIM:256730	PPT1	5538	HP:0000618	Blindness
OMIM:256730	PPT1	5538	HP:0002353	EEG abnormality
OMIM:256730	PPT1	5538	HP:0000738	Hallucinations
OMIM:256730	PPT1	5538	HP:0002360	Sleep disturbance
OMIM:256730	PPT1	5538	HP:0001249	Intellectual disability
OMIM:256730	PPT1	5538	HP:0003674	Onset
OMIM:256730	PPT1	5538	HP:0005484	Postnatal microcephaly
OMIM:256730	PPT1	5538	HP:0000737	Irritability
OMIM:256730	PPT1	5538	HP:0000550	Undetectable electroretinogram
OMIM:194070	POU6F2	11281	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194070	POU6F2	11281	HP:0001428	Somatic mutation
OMIM:194070	POU6F2	11281	HP:0001425	Heterogeneous
OMIM:194070	POU6F2	11281	HP:0000006	Autosomal dominant inheritance
OMIM:194070	WT1	7490	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194070	WT1	7490	HP:0001428	Somatic mutation
OMIM:194070	WT1	7490	HP:0001425	Heterogeneous
OMIM:194070	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:194070	BRCA2	675	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194070	BRCA2	675	HP:0001428	Somatic mutation
OMIM:194070	BRCA2	675	HP:0001425	Heterogeneous
OMIM:194070	BRCA2	675	HP:0000006	Autosomal dominant inheritance
OMIM:194070	H19	283120	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194070	H19	283120	HP:0001428	Somatic mutation
OMIM:194070	H19	283120	HP:0001425	Heterogeneous
OMIM:194070	H19	283120	HP:0000006	Autosomal dominant inheritance
OMIM:194070	DIS3L2	129563	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194070	DIS3L2	129563	HP:0001428	Somatic mutation
OMIM:194070	DIS3L2	129563	HP:0001425	Heterogeneous
OMIM:194070	DIS3L2	129563	HP:0000006	Autosomal dominant inheritance
OMIM:194070	GPC3	2719	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194070	GPC3	2719	HP:0001428	Somatic mutation
OMIM:194070	GPC3	2719	HP:0001425	Heterogeneous
OMIM:194070	GPC3	2719	HP:0000006	Autosomal dominant inheritance
OMIM:613933	ACACA	31	HP:0001510	Growth delay
OMIM:613933	ACACA	31	HP:0003198	Myopathy
OMIM:613933	ACACA	31	HP:0000007	Autosomal recessive inheritance
OMIM:613933	ACACA	31	HP:0001252	Muscular hypotonia
OMIM:130070	B4GALT7	11285	HP:0000894	Short clavicles
OMIM:130070	B4GALT7	11285	HP:0001075	Atrophic scars
OMIM:130070	B4GALT7	11285	HP:0011308	Slender toe
OMIM:130070	B4GALT7	11285	HP:0010511	Long toe
OMIM:130070	B4GALT7	11285	HP:0000938	Osteopenia
OMIM:130070	B4GALT7	11285	HP:0000256	Macrocephaly
OMIM:130070	B4GALT7	11285	HP:0000274	Small face
OMIM:130070	B4GALT7	11285	HP:0000520	Proptosis
OMIM:130070	B4GALT7	11285	HP:0002209	Sparse scalp hair
OMIM:130070	B4GALT7	11285	HP:0001508	Failure to thrive
OMIM:130070	B4GALT7	11285	HP:0004322	Short stature
OMIM:130070	B4GALT7	11285	HP:0001166	Arachnodactyly
OMIM:130070	B4GALT7	11285	HP:0002974	Radioulnar synostosis
OMIM:130070	B4GALT7	11285	HP:0000193	Bifid uvula
OMIM:130070	B4GALT7	11285	HP:0000160	Narrow mouth
OMIM:130070	B4GALT7	11285	HP:0001388	Joint laxity
OMIM:130070	B4GALT7	11285	HP:0007469	Palmoplantar cutis gyrata
OMIM:130070	B4GALT7	11285	HP:0000007	Autosomal recessive inheritance
OMIM:130070	B4GALT7	11285	HP:0000774	Narrow chest
OMIM:130070	B4GALT7	11285	HP:0000954	Single transverse palmar crease
OMIM:130070	B4GALT7	11285	HP:0000387	Absent earlobe
OMIM:130070	B4GALT7	11285	HP:0000431	Wide nasal bridge
OMIM:130070	B4GALT7	11285	HP:0001252	Muscular hypotonia
OMIM:130070	B4GALT7	11285	HP:0002673	Coxa valga
OMIM:130070	B4GALT7	11285	HP:0001263	Global developmental delay
OMIM:130070	B4GALT7	11285	HP:0001763	Pes planus
OMIM:130070	B3GALT6	126792	HP:0000894	Short clavicles
OMIM:130070	B3GALT6	126792	HP:0001075	Atrophic scars
OMIM:130070	B3GALT6	126792	HP:0011308	Slender toe
OMIM:130070	B3GALT6	126792	HP:0010511	Long toe
OMIM:130070	B3GALT6	126792	HP:0000938	Osteopenia
OMIM:130070	B3GALT6	126792	HP:0000256	Macrocephaly
OMIM:130070	B3GALT6	126792	HP:0000274	Small face
OMIM:130070	B3GALT6	126792	HP:0000520	Proptosis
OMIM:130070	B3GALT6	126792	HP:0002209	Sparse scalp hair
OMIM:130070	B3GALT6	126792	HP:0001508	Failure to thrive
OMIM:130070	B3GALT6	126792	HP:0004322	Short stature
OMIM:130070	B3GALT6	126792	HP:0001166	Arachnodactyly
OMIM:130070	B3GALT6	126792	HP:0002974	Radioulnar synostosis
OMIM:130070	B3GALT6	126792	HP:0000193	Bifid uvula
OMIM:130070	B3GALT6	126792	HP:0000160	Narrow mouth
OMIM:130070	B3GALT6	126792	HP:0001388	Joint laxity
OMIM:130070	B3GALT6	126792	HP:0007469	Palmoplantar cutis gyrata
OMIM:130070	B3GALT6	126792	HP:0000007	Autosomal recessive inheritance
OMIM:130070	B3GALT6	126792	HP:0000774	Narrow chest
OMIM:130070	B3GALT6	126792	HP:0000954	Single transverse palmar crease
OMIM:130070	B3GALT6	126792	HP:0000387	Absent earlobe
OMIM:130070	B3GALT6	126792	HP:0000431	Wide nasal bridge
OMIM:130070	B3GALT6	126792	HP:0001252	Muscular hypotonia
OMIM:130070	B3GALT6	126792	HP:0002673	Coxa valga
OMIM:130070	B3GALT6	126792	HP:0001263	Global developmental delay
OMIM:130070	B3GALT6	126792	HP:0001763	Pes planus
ORPHANET:137608	PTEN	5728	HP:0100013	Neoplasm of the breast
ORPHANET:137608	PTEN	5728	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:137608	PTEN	5728	HP:0002757	Recurrent fractures
ORPHANET:137608	PTEN	5728	HP:0004349	Reduced bone mineral density
ORPHANET:137608	PTEN	5728	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:137608	PTEN	5728	HP:0100615	Ovarian neoplasm
ORPHANET:137608	PTEN	5728	HP:0100026	Arteriovenous malformation
ORPHANET:137608	PTEN	5728	HP:0001883	Talipes
ORPHANET:137608	PTEN	5728	HP:0001635	Congestive heart failure
ORPHANET:137608	PTEN	5728	HP:0000256	Macrocephaly
ORPHANET:137608	PTEN	5728	HP:0005293	Venous insufficiency
OMIM:616247	CALM1	801	HP:0001695	Cardiac arrest
OMIM:616247	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:616247	CALM2	805	HP:0001695	Cardiac arrest
OMIM:616247	CALM2	805	HP:0001657	Prolonged QT interval
OMIM:616247	KCNE2	9992	HP:0001695	Cardiac arrest
OMIM:616247	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:616247	KCNQ1	3784	HP:0001695	Cardiac arrest
OMIM:616247	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:616247	KCNE1	3753	HP:0001695	Cardiac arrest
OMIM:616247	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:616247	KCNH2	3757	HP:0001695	Cardiac arrest
OMIM:616247	KCNH2	3757	HP:0001657	Prolonged QT interval
OMIM:616247	SNTA1	6640	HP:0001695	Cardiac arrest
OMIM:616247	SNTA1	6640	HP:0001657	Prolonged QT interval
OMIM:616247	KCNJ5	3762	HP:0001695	Cardiac arrest
OMIM:616247	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:616247	SCN4B	6330	HP:0001695	Cardiac arrest
OMIM:616247	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:616247	NOS1AP	9722	HP:0001695	Cardiac arrest
OMIM:616247	NOS1AP	9722	HP:0001657	Prolonged QT interval
OMIM:616247	SCN5A	6331	HP:0001695	Cardiac arrest
OMIM:616247	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:616247	CAV3	859	HP:0001695	Cardiac arrest
OMIM:616247	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:616247	AKAP9	10142	HP:0001695	Cardiac arrest
OMIM:616247	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:616247	ANK2	287	HP:0001695	Cardiac arrest
OMIM:616247	ANK2	287	HP:0001657	Prolonged QT interval
OMIM:608013	GBA	2629	HP:0000463	Anteverted nares
OMIM:608013	GBA	2629	HP:0000741	Apathy
OMIM:608013	GBA	2629	HP:0002240	Hepatomegaly
OMIM:608013	GBA	2629	HP:0000194	Open mouth
OMIM:608013	GBA	2629	HP:0000368	Low-set, posteriorly rotated ears
OMIM:608013	GBA	2629	HP:0001873	Thrombocytopenia
OMIM:608013	GBA	2629	HP:0002098	Respiratory distress
OMIM:608013	GBA	2629	HP:0001250	Seizures
OMIM:608013	GBA	2629	HP:0000160	Narrow mouth
OMIM:608013	GBA	2629	HP:0000369	Low-set ears
OMIM:608013	GBA	2629	HP:0002104	Apnea
OMIM:608013	GBA	2629	HP:0000967	Petechiae
OMIM:608013	GBA	2629	HP:0001903	Anemia
OMIM:608013	GBA	2629	HP:0001744	Splenomegaly
OMIM:608013	GBA	2629	HP:0001511	Intrauterine growth retardation
OMIM:608013	GBA	2629	HP:0005280	Depressed nasal bridge
OMIM:608013	GBA	2629	HP:0001541	Ascites
OMIM:608013	GBA	2629	HP:0002015	Dysphagia
OMIM:608013	GBA	2629	HP:0000316	Hypertelorism
OMIM:608013	GBA	2629	HP:0000979	Purpura
OMIM:608013	GBA	2629	HP:0001558	Decreased fetal movement
OMIM:608013	GBA	2629	HP:0002170	Intracranial hemorrhage
OMIM:608013	GBA	2629	HP:0001252	Muscular hypotonia
OMIM:608013	GBA	2629	HP:0002119	Ventriculomegaly
OMIM:608013	GBA	2629	HP:0001640	Cardiomegaly
OMIM:608013	GBA	2629	HP:0001561	Polyhydramnios
OMIM:608013	GBA	2629	HP:0002344	Progressive neurologic deterioration
OMIM:608013	GBA	2629	HP:0000232	Everted lower lip vermilion
OMIM:608013	GBA	2629	HP:0001276	Hypertonia
OMIM:608013	GBA	2629	HP:0000007	Autosomal recessive inheritance
OMIM:608013	GBA	2629	HP:0000278	Retrognathia
OMIM:608013	GBA	2629	HP:0008551	Microtia
OMIM:608013	GBA	2629	HP:0002179	Opisthotonus
OMIM:608013	GBA	2629	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608013	GBA	2629	HP:0000962	Hyperkeratosis
OMIM:608013	GBA	2629	HP:0003196	Short nose
OMIM:608013	GBA	2629	HP:0000492	Abnormality of the eyelid
OMIM:608013	GBA	2629	HP:0000325	Triangular face
OMIM:608013	GBA	2629	HP:0001399	Hepatic failure
OMIM:608013	GBA	2629	HP:0005257	Thoracic hypoplasia
OMIM:608013	GBA	2629	HP:0000486	Strabismus
OMIM:608013	GBA	2629	HP:0000174	Abnormality of the palate
OMIM:608013	GBA	2629	HP:0001789	Hydrops fetalis
OMIM:608013	GBA	2629	HP:0000347	Micrognathia
OMIM:608013	GBA	2629	HP:0000252	Microcephaly
OMIM:608013	GBA	2629	HP:0001622	Premature birth
OMIM:224500	HPCA	3208	HP:0000643	Blepharospasm
OMIM:224500	HPCA	3208	HP:0003621	Juvenile onset
OMIM:224500	HPCA	3208	HP:0001260	Dysarthria
OMIM:224500	HPCA	3208	HP:0002015	Dysphagia
OMIM:224500	HPCA	3208	HP:0000007	Autosomal recessive inheritance
OMIM:224500	HPCA	3208	HP:0000473	Torticollis
OMIM:224500	HPCA	3208	HP:0001337	Tremor
OMIM:224500	HPCA	3208	HP:0001304	Torsion dystonia
OMIM:313400	TRAPPC2	6399	HP:0001419	X-linked recessive inheritance
OMIM:313400	TRAPPC2	6399	HP:0000926	Platyspondyly
OMIM:313400	TRAPPC2	6399	HP:0002829	Arthralgia
OMIM:313400	TRAPPC2	6399	HP:0003521	Disproportionate short-trunk short stature
OMIM:313400	TRAPPC2	6399	HP:0002812	Coxa vara
OMIM:313400	TRAPPC2	6399	HP:0002938	Lumbar hyperlordosis
OMIM:313400	TRAPPC2	6399	HP:0001552	Barrel-shaped chest
OMIM:313400	TRAPPC2	6399	HP:0007759	Opacification of the corneal stroma
OMIM:313400	TRAPPC2	6399	HP:0000470	Short neck
OMIM:313400	TRAPPC2	6399	HP:0002808	Kyphosis
OMIM:313400	TRAPPC2	6399	HP:0001376	Limitation of joint mobility
OMIM:313400	TRAPPC2	6399	HP:0002650	Scoliosis
OMIM:313400	TRAPPC2	6399	HP:0000914	Shield chest
OMIM:313400	TRAPPC2	6399	HP:0100864	Short femoral neck
OMIM:607721	SHOC2	8036	HP:0000174	Abnormality of the palate
OMIM:607721	SHOC2	8036	HP:0011220	Prominent forehead
OMIM:607721	SHOC2	8036	HP:0000400	Macrotia
OMIM:607721	SHOC2	8036	HP:0002162	Low posterior hairline
OMIM:607721	SHOC2	8036	HP:0001631	Atria septal defect
OMIM:607721	SHOC2	8036	HP:0003196	Short nose
OMIM:607721	SHOC2	8036	HP:0005108	Abnormality of the intervertebral disk
OMIM:607721	SHOC2	8036	HP:0000028	Cryptorchidism
OMIM:607721	SHOC2	8036	HP:0000465	Webbed neck
OMIM:607721	SHOC2	8036	HP:0000767	Pectus excavatum
OMIM:607721	SHOC2	8036	HP:0000238	Hydrocephalus
OMIM:607721	SHOC2	8036	HP:0000670	Carious teeth
OMIM:607721	SHOC2	8036	HP:0000006	Autosomal dominant inheritance
OMIM:607721	SHOC2	8036	HP:0000463	Anteverted nares
OMIM:607721	SHOC2	8036	HP:0002209	Sparse scalp hair
OMIM:607721	SHOC2	8036	HP:0000752	Hyperactivity
OMIM:607721	SHOC2	8036	HP:0004322	Short stature
OMIM:607721	SHOC2	8036	HP:0008064	Ichthyosis
OMIM:607721	SHOC2	8036	HP:0100543	Cognitive impairment
OMIM:607721	SHOC2	8036	HP:0001629	Ventricular septal defect
OMIM:607721	SHOC2	8036	HP:0001642	Pulmonic stenosis
OMIM:607721	SHOC2	8036	HP:0002750	Delayed skeletal maturation
OMIM:607721	SHOC2	8036	HP:0001611	Nasal speech
OMIM:607721	SHOC2	8036	HP:0000368	Low-set, posteriorly rotated ears
OMIM:607721	SHOC2	8036	HP:0000486	Strabismus
OMIM:607721	SHOC2	8036	HP:0000286	Epicanthus
OMIM:607721	SHOC2	8036	HP:0000233	Thin vermilion border
OMIM:607721	SHOC2	8036	HP:0001800	Hypoplastic toenails
OMIM:607721	SHOC2	8036	HP:0000365	Hearing impairment
OMIM:607721	SHOC2	8036	HP:0001156	Brachydactyly syndrome
OMIM:607721	SHOC2	8036	HP:0004414	Abnormality of the pulmonary artery
OMIM:607721	SHOC2	8036	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607721	SHOC2	8036	HP:0000358	Posteriorly rotated ears
OMIM:607721	SHOC2	8036	HP:0009811	Abnormality of the elbow
OMIM:607721	SHOC2	8036	HP:0000369	Low-set ears
OMIM:607721	SHOC2	8036	HP:0000316	Hypertelorism
OMIM:607721	SHOC2	8036	HP:0000470	Short neck
OMIM:607721	SHOC2	8036	HP:0000964	Eczema
OMIM:607721	SHOC2	8036	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:607721	SHOC2	8036	HP:0000179	Thick lower lip vermilion
OMIM:607721	SHOC2	8036	HP:0001231	Abnormality of the fingernails
OMIM:607721	SHOC2	8036	HP:0000256	Macrocephaly
OMIM:607721	SHOC2	8036	HP:0001249	Intellectual disability
OMIM:607721	SHOC2	8036	HP:0011362	Abnormal hair quantity
OMIM:245200	GALC	2581	HP:0000007	Autosomal recessive inheritance
OMIM:245200	GALC	2581	HP:0007928	Abnormal flash visual evoked potentials
OMIM:245200	GALC	2581	HP:0002180	Neurodegeneration
OMIM:245200	GALC	2581	HP:0011096	Peripheral demyelination
OMIM:245200	GALC	2581	HP:0002353	EEG abnormality
OMIM:245200	GALC	2581	HP:0001276	Hypertonia
OMIM:245200	GALC	2581	HP:0007305	CNS demyelination
OMIM:245200	GALC	2581	HP:0000648	Optic atrophy
OMIM:245200	GALC	2581	HP:0002376	Developmental regression
OMIM:245200	GALC	2581	HP:0000639	Nystagmus
OMIM:245200	GALC	2581	HP:0001250	Seizures
OMIM:245200	GALC	2581	HP:0000762	Decreased nerve conduction velocity
OMIM:245200	GALC	2581	HP:0001508	Failure to thrive
OMIM:245200	GALC	2581	HP:0000365	Hearing impairment
OMIM:245200	GALC	2581	HP:0006801	Hyperactive deep tendon reflexes
OMIM:245200	GALC	2581	HP:0002922	Increased CSF protein
OMIM:245200	GALC	2581	HP:0007141	Sensorimotor neuropathy
OMIM:245200	GALC	2581	HP:0000238	Hydrocephalus
OMIM:245200	GALC	2581	HP:0002013	Vomiting
OMIM:245200	GALC	2581	HP:0000618	Blindness
OMIM:245200	GALC	2581	HP:0001252	Muscular hypotonia
OMIM:600143	CLN8	2055	HP:0000007	Autosomal recessive inheritance
OMIM:600143	CLN8	2055	HP:0001250	Seizures
OMIM:600143	CLN8	2055	HP:0001336	Myoclonus
OMIM:600143	CLN8	2055	HP:0002353	EEG abnormality
OMIM:600143	CLN8	2055	HP:0001251	Ataxia
OMIM:600143	CLN8	2055	HP:0000750	Delayed speech and language development
OMIM:600143	CLN8	2055	HP:0002059	Cerebral atrophy
OMIM:600143	CLN8	2055	HP:0000529	Progressive visual loss
OMIM:600143	CLN8	2055	HP:0001272	Cerebellar atrophy
OMIM:600143	CLN8	2055	HP:0002376	Developmental regression
OMIM:610227	ZNF750	79755	HP:0001051	Seborrheic dermatitis
OMIM:610227	ZNF750	79755	HP:0000962	Hyperkeratosis
OMIM:610227	ZNF750	79755	HP:0000006	Autosomal dominant inheritance
OMIM:603689	TTN	7273	HP:0009027	Foot dorsiflexor weakness
OMIM:603689	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:614524	COL11A1	1301	HP:0000946	Hypoplastic ilia
OMIM:614524	COL11A1	1301	HP:0000006	Autosomal dominant inheritance
OMIM:614524	COL11A1	1301	HP:0003196	Short nose
OMIM:614524	COL11A1	1301	HP:0000463	Anteverted nares
OMIM:614524	COL11A1	1301	HP:0001538	Protuberant abdomen
OMIM:614524	COL11A1	1301	HP:0003173	Hypoplastic pubic bone
OMIM:614524	COL11A1	1301	HP:0001591	Bell-shaped thorax
OMIM:614524	COL11A1	1301	HP:0000007	Autosomal recessive inheritance
OMIM:614524	COL11A1	1301	HP:0000347	Micrognathia
OMIM:614524	COL11A1	1301	HP:0000773	Short ribs
OMIM:614524	COL11A1	1301	HP:0000926	Platyspondyly
OMIM:614524	COL11A1	1301	HP:0003016	Metaphyseal widening
OMIM:614524	COL11A1	1301	HP:0005257	Thoracic hypoplasia
OMIM:614524	COL11A1	1301	HP:0011800	Hypoplasia of midface
OMIM:614524	COL11A1	1301	HP:0000272	Malar flattening
OMIM:614524	COL11A1	1301	HP:0003175	Hypoplastic ischia
OMIM:614524	COL11A2	1302	HP:0000946	Hypoplastic ilia
OMIM:614524	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:614524	COL11A2	1302	HP:0003196	Short nose
OMIM:614524	COL11A2	1302	HP:0000463	Anteverted nares
OMIM:614524	COL11A2	1302	HP:0001538	Protuberant abdomen
OMIM:614524	COL11A2	1302	HP:0003173	Hypoplastic pubic bone
OMIM:614524	COL11A2	1302	HP:0001591	Bell-shaped thorax
OMIM:614524	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:614524	COL11A2	1302	HP:0000347	Micrognathia
OMIM:614524	COL11A2	1302	HP:0000773	Short ribs
OMIM:614524	COL11A2	1302	HP:0000926	Platyspondyly
OMIM:614524	COL11A2	1302	HP:0003016	Metaphyseal widening
OMIM:614524	COL11A2	1302	HP:0005257	Thoracic hypoplasia
OMIM:614524	COL11A2	1302	HP:0011800	Hypoplasia of midface
OMIM:614524	COL11A2	1302	HP:0000272	Malar flattening
OMIM:614524	COL11A2	1302	HP:0003175	Hypoplastic ischia
OMIM:104510	DLX3	1747	HP:0000006	Autosomal dominant inheritance
OMIM:104510	DLX3	1747	HP:0000679	Taurodontia
OMIM:600969	COL9A1	1297	HP:0000006	Autosomal dominant inheritance
OMIM:600969	COL9A1	1297	HP:0002663	Delayed epiphyseal ossification
OMIM:600969	COL9A1	1297	HP:0003701	Proximal muscle weakness
OMIM:600969	COL9A1	1297	HP:0001384	Abnormality of the hip joint
OMIM:600969	COL9A1	1297	HP:0002758	Osteoarthritis
OMIM:600969	COL9A1	1297	HP:0003236	Elevated serum creatine phosphokinase
OMIM:600969	COL9A1	1297	HP:0010049	Short metacarpal
OMIM:600969	COL9A2	1298	HP:0000006	Autosomal dominant inheritance
OMIM:600969	COL9A2	1298	HP:0002663	Delayed epiphyseal ossification
OMIM:600969	COL9A2	1298	HP:0003701	Proximal muscle weakness
OMIM:600969	COL9A2	1298	HP:0001384	Abnormality of the hip joint
OMIM:600969	COL9A2	1298	HP:0002758	Osteoarthritis
OMIM:600969	COL9A2	1298	HP:0003236	Elevated serum creatine phosphokinase
OMIM:600969	COL9A2	1298	HP:0010049	Short metacarpal
OMIM:600969	COL9A3	1299	HP:0000006	Autosomal dominant inheritance
OMIM:600969	COL9A3	1299	HP:0002663	Delayed epiphyseal ossification
OMIM:600969	COL9A3	1299	HP:0003701	Proximal muscle weakness
OMIM:600969	COL9A3	1299	HP:0001384	Abnormality of the hip joint
OMIM:600969	COL9A3	1299	HP:0002758	Osteoarthritis
OMIM:600969	COL9A3	1299	HP:0003236	Elevated serum creatine phosphokinase
OMIM:600969	COL9A3	1299	HP:0010049	Short metacarpal
OMIM:602111	MMP13	4322	HP:0003071	Flattened epiphysis
OMIM:602111	MMP13	4322	HP:0002970	Genu varum
OMIM:602111	MMP13	4322	HP:0003021	Metaphyseal cupping
OMIM:602111	MMP13	4322	HP:0008905	Rhizomelia
OMIM:602111	MMP13	4322	HP:0002982	Tibial bowing
OMIM:602111	MMP13	4322	HP:0002869	Flared iliac wings
OMIM:602111	MMP13	4322	HP:0000926	Platyspondyly
OMIM:602111	MMP13	4322	HP:0002812	Coxa vara
OMIM:602111	MMP13	4322	HP:0000006	Autosomal dominant inheritance
OMIM:602111	MMP13	4322	HP:0003015	Flared metaphysis
OMIM:602111	MMP13	4322	HP:0002515	Waddling gait
OMIM:602111	MMP13	4322	HP:0002750	Delayed skeletal maturation
OMIM:602111	MMP13	4322	HP:0002986	Radial bowing
OMIM:602111	MMP13	4322	HP:0002980	Femoral bowing
OMIM:602111	MMP13	4322	HP:0002758	Osteoarthritis
OMIM:602111	MMP13	4322	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:602111	MMP9	4318	HP:0003071	Flattened epiphysis
OMIM:602111	MMP9	4318	HP:0002970	Genu varum
OMIM:602111	MMP9	4318	HP:0003021	Metaphyseal cupping
OMIM:602111	MMP9	4318	HP:0008905	Rhizomelia
OMIM:602111	MMP9	4318	HP:0002982	Tibial bowing
OMIM:602111	MMP9	4318	HP:0002869	Flared iliac wings
OMIM:602111	MMP9	4318	HP:0000926	Platyspondyly
OMIM:602111	MMP9	4318	HP:0002812	Coxa vara
OMIM:602111	MMP9	4318	HP:0000006	Autosomal dominant inheritance
OMIM:602111	MMP9	4318	HP:0003015	Flared metaphysis
OMIM:602111	MMP9	4318	HP:0002515	Waddling gait
OMIM:602111	MMP9	4318	HP:0002750	Delayed skeletal maturation
OMIM:602111	MMP9	4318	HP:0002986	Radial bowing
OMIM:602111	MMP9	4318	HP:0002980	Femoral bowing
OMIM:602111	MMP9	4318	HP:0002758	Osteoarthritis
OMIM:602111	MMP9	4318	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:609286	POLG2	11232	HP:0000518	Cataract
OMIM:609286	POLG2	11232	HP:0003546	Exercise intolerance
OMIM:609286	POLG2	11232	HP:0000716	Depression
OMIM:609286	POLG2	11232	HP:0000820	Abnormality of the thyroid gland
OMIM:609286	POLG2	11232	HP:0000819	Diabetes mellitus
OMIM:609286	POLG2	11232	HP:0003690	Limb muscle weakness
OMIM:609286	POLG2	11232	HP:0003701	Proximal muscle weakness
OMIM:609286	POLG2	11232	HP:0002151	Increased serum lactate
OMIM:609286	POLG2	11232	HP:0000508	Ptosis
OMIM:609286	POLG2	11232	HP:0002059	Cerebral atrophy
OMIM:609286	POLG2	11232	HP:0001260	Dysarthria
OMIM:609286	POLG2	11232	HP:0000726	Dementia
OMIM:609286	POLG2	11232	HP:0001662	Bradycardia
OMIM:609286	POLG2	11232	HP:0001638	Cardiomyopathy
OMIM:609286	POLG2	11232	HP:0001618	Dysphonia
OMIM:609286	POLG2	11232	HP:0001288	Gait disturbance
OMIM:609286	POLG2	11232	HP:0001263	Global developmental delay
OMIM:609286	POLG2	11232	HP:0000135	Hypogonadism
OMIM:609286	POLG2	11232	HP:0001284	Areflexia
OMIM:609286	POLG2	11232	HP:0000006	Autosomal dominant inheritance
OMIM:609286	POLG2	11232	HP:0001300	Parkinsonism
OMIM:609286	POLG2	11232	HP:0001250	Seizures
OMIM:609286	POLG2	11232	HP:0003676	Progressive
OMIM:609286	POLG2	11232	HP:0003458	EMG: myopathic abnormalities
OMIM:609286	POLG2	11232	HP:0001730	Progressive hearing impairment
OMIM:609286	POLG2	11232	HP:0002015	Dysphagia
OMIM:609286	POLG2	11232	HP:0001265	Hyporeflexia
OMIM:609286	POLG2	11232	HP:0003326	Myalgia
OMIM:609286	POLG2	11232	HP:0003581	Adult onset
OMIM:609286	SLC25A4	291	HP:0000518	Cataract
OMIM:609286	SLC25A4	291	HP:0003546	Exercise intolerance
OMIM:609286	SLC25A4	291	HP:0000716	Depression
OMIM:609286	SLC25A4	291	HP:0000820	Abnormality of the thyroid gland
OMIM:609286	SLC25A4	291	HP:0000819	Diabetes mellitus
OMIM:609286	SLC25A4	291	HP:0003690	Limb muscle weakness
OMIM:609286	SLC25A4	291	HP:0003701	Proximal muscle weakness
OMIM:609286	SLC25A4	291	HP:0002151	Increased serum lactate
OMIM:609286	SLC25A4	291	HP:0000508	Ptosis
OMIM:609286	SLC25A4	291	HP:0002059	Cerebral atrophy
OMIM:609286	SLC25A4	291	HP:0001260	Dysarthria
OMIM:609286	SLC25A4	291	HP:0000726	Dementia
OMIM:609286	SLC25A4	291	HP:0001662	Bradycardia
OMIM:609286	SLC25A4	291	HP:0001638	Cardiomyopathy
OMIM:609286	SLC25A4	291	HP:0001618	Dysphonia
OMIM:609286	SLC25A4	291	HP:0001288	Gait disturbance
OMIM:609286	SLC25A4	291	HP:0001263	Global developmental delay
OMIM:609286	SLC25A4	291	HP:0000135	Hypogonadism
OMIM:609286	SLC25A4	291	HP:0001284	Areflexia
OMIM:609286	SLC25A4	291	HP:0000006	Autosomal dominant inheritance
OMIM:609286	SLC25A4	291	HP:0001300	Parkinsonism
OMIM:609286	SLC25A4	291	HP:0001250	Seizures
OMIM:609286	SLC25A4	291	HP:0003676	Progressive
OMIM:609286	SLC25A4	291	HP:0003458	EMG: myopathic abnormalities
OMIM:609286	SLC25A4	291	HP:0001730	Progressive hearing impairment
OMIM:609286	SLC25A4	291	HP:0002015	Dysphagia
OMIM:609286	SLC25A4	291	HP:0001265	Hyporeflexia
OMIM:609286	SLC25A4	291	HP:0003326	Myalgia
OMIM:609286	SLC25A4	291	HP:0003581	Adult onset
OMIM:609286	POLG	5428	HP:0000518	Cataract
OMIM:609286	POLG	5428	HP:0003546	Exercise intolerance
OMIM:609286	POLG	5428	HP:0000716	Depression
OMIM:609286	POLG	5428	HP:0000820	Abnormality of the thyroid gland
OMIM:609286	POLG	5428	HP:0000819	Diabetes mellitus
OMIM:609286	POLG	5428	HP:0003690	Limb muscle weakness
OMIM:609286	POLG	5428	HP:0003701	Proximal muscle weakness
OMIM:609286	POLG	5428	HP:0002151	Increased serum lactate
OMIM:609286	POLG	5428	HP:0000508	Ptosis
OMIM:609286	POLG	5428	HP:0002059	Cerebral atrophy
OMIM:609286	POLG	5428	HP:0001260	Dysarthria
OMIM:609286	POLG	5428	HP:0000726	Dementia
OMIM:609286	POLG	5428	HP:0001662	Bradycardia
OMIM:609286	POLG	5428	HP:0001638	Cardiomyopathy
OMIM:609286	POLG	5428	HP:0001618	Dysphonia
OMIM:609286	POLG	5428	HP:0001288	Gait disturbance
OMIM:609286	POLG	5428	HP:0001263	Global developmental delay
OMIM:609286	POLG	5428	HP:0000135	Hypogonadism
OMIM:609286	POLG	5428	HP:0001284	Areflexia
OMIM:609286	POLG	5428	HP:0000006	Autosomal dominant inheritance
OMIM:609286	POLG	5428	HP:0001300	Parkinsonism
OMIM:609286	POLG	5428	HP:0001250	Seizures
OMIM:609286	POLG	5428	HP:0003676	Progressive
OMIM:609286	POLG	5428	HP:0003458	EMG: myopathic abnormalities
OMIM:609286	POLG	5428	HP:0001730	Progressive hearing impairment
OMIM:609286	POLG	5428	HP:0002015	Dysphagia
OMIM:609286	POLG	5428	HP:0001265	Hyporeflexia
OMIM:609286	POLG	5428	HP:0003326	Myalgia
OMIM:609286	POLG	5428	HP:0003581	Adult onset
OMIM:609286	RRM2B	50484	HP:0000518	Cataract
OMIM:609286	RRM2B	50484	HP:0003546	Exercise intolerance
OMIM:609286	RRM2B	50484	HP:0000716	Depression
OMIM:609286	RRM2B	50484	HP:0000820	Abnormality of the thyroid gland
OMIM:609286	RRM2B	50484	HP:0000819	Diabetes mellitus
OMIM:609286	RRM2B	50484	HP:0003690	Limb muscle weakness
OMIM:609286	RRM2B	50484	HP:0003701	Proximal muscle weakness
OMIM:609286	RRM2B	50484	HP:0002151	Increased serum lactate
OMIM:609286	RRM2B	50484	HP:0000508	Ptosis
OMIM:609286	RRM2B	50484	HP:0002059	Cerebral atrophy
OMIM:609286	RRM2B	50484	HP:0001260	Dysarthria
OMIM:609286	RRM2B	50484	HP:0000726	Dementia
OMIM:609286	RRM2B	50484	HP:0001662	Bradycardia
OMIM:609286	RRM2B	50484	HP:0001638	Cardiomyopathy
OMIM:609286	RRM2B	50484	HP:0001618	Dysphonia
OMIM:609286	RRM2B	50484	HP:0001288	Gait disturbance
OMIM:609286	RRM2B	50484	HP:0001263	Global developmental delay
OMIM:609286	RRM2B	50484	HP:0000135	Hypogonadism
OMIM:609286	RRM2B	50484	HP:0001284	Areflexia
OMIM:609286	RRM2B	50484	HP:0000006	Autosomal dominant inheritance
OMIM:609286	RRM2B	50484	HP:0001300	Parkinsonism
OMIM:609286	RRM2B	50484	HP:0001250	Seizures
OMIM:609286	RRM2B	50484	HP:0003676	Progressive
OMIM:609286	RRM2B	50484	HP:0003458	EMG: myopathic abnormalities
OMIM:609286	RRM2B	50484	HP:0001730	Progressive hearing impairment
OMIM:609286	RRM2B	50484	HP:0002015	Dysphagia
OMIM:609286	RRM2B	50484	HP:0001265	Hyporeflexia
OMIM:609286	RRM2B	50484	HP:0003326	Myalgia
OMIM:609286	RRM2B	50484	HP:0003581	Adult onset
OMIM:609286	C10ORF2	56652	HP:0000518	Cataract
OMIM:609286	C10ORF2	56652	HP:0003546	Exercise intolerance
OMIM:609286	C10ORF2	56652	HP:0000716	Depression
OMIM:609286	C10ORF2	56652	HP:0000820	Abnormality of the thyroid gland
OMIM:609286	C10ORF2	56652	HP:0000819	Diabetes mellitus
OMIM:609286	C10ORF2	56652	HP:0003690	Limb muscle weakness
OMIM:609286	C10ORF2	56652	HP:0003701	Proximal muscle weakness
OMIM:609286	C10ORF2	56652	HP:0002151	Increased serum lactate
OMIM:609286	C10ORF2	56652	HP:0000508	Ptosis
OMIM:609286	C10ORF2	56652	HP:0002059	Cerebral atrophy
OMIM:609286	C10ORF2	56652	HP:0001260	Dysarthria
OMIM:609286	C10ORF2	56652	HP:0000726	Dementia
OMIM:609286	C10ORF2	56652	HP:0001662	Bradycardia
OMIM:609286	C10ORF2	56652	HP:0001638	Cardiomyopathy
OMIM:609286	C10ORF2	56652	HP:0001618	Dysphonia
OMIM:609286	C10ORF2	56652	HP:0001288	Gait disturbance
OMIM:609286	C10ORF2	56652	HP:0001263	Global developmental delay
OMIM:609286	C10ORF2	56652	HP:0000135	Hypogonadism
OMIM:609286	C10ORF2	56652	HP:0001284	Areflexia
OMIM:609286	C10ORF2	56652	HP:0000006	Autosomal dominant inheritance
OMIM:609286	C10ORF2	56652	HP:0001300	Parkinsonism
OMIM:609286	C10ORF2	56652	HP:0001250	Seizures
OMIM:609286	C10ORF2	56652	HP:0003676	Progressive
OMIM:609286	C10ORF2	56652	HP:0003458	EMG: myopathic abnormalities
OMIM:609286	C10ORF2	56652	HP:0001730	Progressive hearing impairment
OMIM:609286	C10ORF2	56652	HP:0002015	Dysphagia
OMIM:609286	C10ORF2	56652	HP:0001265	Hyporeflexia
OMIM:609286	C10ORF2	56652	HP:0003326	Myalgia
OMIM:609286	C10ORF2	56652	HP:0003581	Adult onset
OMIM:614800	NBAS	51594	HP:0000520	Proptosis
OMIM:614800	NBAS	51594	HP:0000316	Hypertelorism
OMIM:614800	NBAS	51594	HP:0000470	Short neck
OMIM:614800	NBAS	51594	HP:0008897	Postnatal growth retardation
OMIM:614800	NBAS	51594	HP:0002213	Fine hair
OMIM:614800	NBAS	51594	HP:0000540	Hypermetropia
OMIM:614800	NBAS	51594	HP:0001156	Brachydactyly syndrome
OMIM:614800	NBAS	51594	HP:0007663	Reduced visual acuity
OMIM:614800	NBAS	51594	HP:0000324	Facial asymmetry
OMIM:614800	NBAS	51594	HP:0001159	Syndactyly
OMIM:614800	NBAS	51594	HP:0000276	Long face
OMIM:614800	NBAS	51594	HP:0000286	Epicanthus
OMIM:614800	NBAS	51594	HP:0000341	Narrow forehead
OMIM:614800	NBAS	51594	HP:0000545	Myopia
OMIM:614800	NBAS	51594	HP:0000486	Strabismus
OMIM:614800	NBAS	51594	HP:0000248	Brachycephaly
OMIM:614800	NBAS	51594	HP:0000973	Cutis laxa
OMIM:614800	NBAS	51594	HP:0001252	Muscular hypotonia
OMIM:614800	NBAS	51594	HP:0004322	Short stature
OMIM:614800	NBAS	51594	HP:0000343	Long philtrum
OMIM:614800	NBAS	51594	HP:0000007	Autosomal recessive inheritance
OMIM:614800	NBAS	51594	HP:0001852	Sandal gap
OMIM:614800	NBAS	51594	HP:0000954	Single transverse palmar crease
OMIM:614800	NBAS	51594	HP:0002750	Delayed skeletal maturation
OMIM:614800	NBAS	51594	HP:0000233	Thin vermilion border
OMIM:614800	NBAS	51594	HP:0000574	Thick eyebrow
OMIM:614800	NBAS	51594	HP:0000648	Optic atrophy
OMIM:614800	NBAS	51594	HP:0002983	Micromelia
OMIM:612955	CALM1	801	HP:0001279	Syncope
OMIM:612955	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:612955	CALM1	801	HP:0001663	Ventricular fibrillation
OMIM:612955	CALM1	801	HP:0005184	Prolonged QTc interval
OMIM:612955	CALM1	801	HP:0001664	Torsade de pointes
OMIM:612955	CALM2	805	HP:0001279	Syncope
OMIM:612955	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:612955	CALM2	805	HP:0001663	Ventricular fibrillation
OMIM:612955	CALM2	805	HP:0005184	Prolonged QTc interval
OMIM:612955	CALM2	805	HP:0001664	Torsade de pointes
OMIM:612955	KCNE2	9992	HP:0001279	Syncope
OMIM:612955	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:612955	KCNE2	9992	HP:0001663	Ventricular fibrillation
OMIM:612955	KCNE2	9992	HP:0005184	Prolonged QTc interval
OMIM:612955	KCNE2	9992	HP:0001664	Torsade de pointes
OMIM:612955	KCNQ1	3784	HP:0001279	Syncope
OMIM:612955	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:612955	KCNQ1	3784	HP:0001663	Ventricular fibrillation
OMIM:612955	KCNQ1	3784	HP:0005184	Prolonged QTc interval
OMIM:612955	KCNQ1	3784	HP:0001664	Torsade de pointes
OMIM:612955	KCNE1	3753	HP:0001279	Syncope
OMIM:612955	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:612955	KCNE1	3753	HP:0001663	Ventricular fibrillation
OMIM:612955	KCNE1	3753	HP:0005184	Prolonged QTc interval
OMIM:612955	KCNE1	3753	HP:0001664	Torsade de pointes
OMIM:612955	KCNH2	3757	HP:0001279	Syncope
OMIM:612955	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:612955	KCNH2	3757	HP:0001663	Ventricular fibrillation
OMIM:612955	KCNH2	3757	HP:0005184	Prolonged QTc interval
OMIM:612955	KCNH2	3757	HP:0001664	Torsade de pointes
OMIM:612955	SNTA1	6640	HP:0001279	Syncope
OMIM:612955	SNTA1	6640	HP:0000006	Autosomal dominant inheritance
OMIM:612955	SNTA1	6640	HP:0001663	Ventricular fibrillation
OMIM:612955	SNTA1	6640	HP:0005184	Prolonged QTc interval
OMIM:612955	SNTA1	6640	HP:0001664	Torsade de pointes
OMIM:612955	KCNJ5	3762	HP:0001279	Syncope
OMIM:612955	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:612955	KCNJ5	3762	HP:0001663	Ventricular fibrillation
OMIM:612955	KCNJ5	3762	HP:0005184	Prolonged QTc interval
OMIM:612955	KCNJ5	3762	HP:0001664	Torsade de pointes
OMIM:612955	SCN4B	6330	HP:0001279	Syncope
OMIM:612955	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:612955	SCN4B	6330	HP:0001663	Ventricular fibrillation
OMIM:612955	SCN4B	6330	HP:0005184	Prolonged QTc interval
OMIM:612955	SCN4B	6330	HP:0001664	Torsade de pointes
OMIM:612955	NOS1AP	9722	HP:0001279	Syncope
OMIM:612955	NOS1AP	9722	HP:0000006	Autosomal dominant inheritance
OMIM:612955	NOS1AP	9722	HP:0001663	Ventricular fibrillation
OMIM:612955	NOS1AP	9722	HP:0005184	Prolonged QTc interval
OMIM:612955	NOS1AP	9722	HP:0001664	Torsade de pointes
OMIM:612955	SCN5A	6331	HP:0001279	Syncope
OMIM:612955	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:612955	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:612955	SCN5A	6331	HP:0005184	Prolonged QTc interval
OMIM:612955	SCN5A	6331	HP:0001664	Torsade de pointes
OMIM:612955	CAV3	859	HP:0001279	Syncope
OMIM:612955	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:612955	CAV3	859	HP:0001663	Ventricular fibrillation
OMIM:612955	CAV3	859	HP:0005184	Prolonged QTc interval
OMIM:612955	CAV3	859	HP:0001664	Torsade de pointes
OMIM:612955	AKAP9	10142	HP:0001279	Syncope
OMIM:612955	AKAP9	10142	HP:0000006	Autosomal dominant inheritance
OMIM:612955	AKAP9	10142	HP:0001663	Ventricular fibrillation
OMIM:612955	AKAP9	10142	HP:0005184	Prolonged QTc interval
OMIM:612955	AKAP9	10142	HP:0001664	Torsade de pointes
OMIM:612955	ANK2	287	HP:0001279	Syncope
OMIM:612955	ANK2	287	HP:0000006	Autosomal dominant inheritance
OMIM:612955	ANK2	287	HP:0001663	Ventricular fibrillation
OMIM:612955	ANK2	287	HP:0005184	Prolonged QTc interval
OMIM:612955	ANK2	287	HP:0001664	Torsade de pointes
OMIM:311250	OTC	5009	HP:0001419	X-linked recessive inheritance
OMIM:311250	OTC	5009	HP:0001950	Respiratory alkalosis
OMIM:311250	OTC	5009	HP:0003355	Aminoaciduria
OMIM:311250	OTC	5009	HP:0001250	Seizures
OMIM:311250	OTC	5009	HP:0001259	Coma
OMIM:311250	OTC	5009	HP:0001951	Episodic ammonia intoxication
OMIM:311250	OTC	5009	HP:0001254	Lethargy
OMIM:311250	OTC	5009	HP:0002021	Pyloric stenosis
OMIM:311250	OTC	5009	HP:0000737	Irritability
OMIM:311250	OTC	5009	HP:0002038	Protein avoidance
OMIM:311250	OTC	5009	HP:0001249	Intellectual disability
OMIM:311250	OTC	5009	HP:0002181	Cerebral edema
OMIM:311250	OTC	5009	HP:0001508	Failure to thrive
OMIM:311250	OTC	5009	HP:0001987	Hyperammonemia
OMIM:311250	OTC	5009	HP:0002131	Episodic ataxia
OMIM:311250	OTC	5009	HP:0001744	Splenomegaly
OMIM:311250	OTC	5009	HP:0001263	Global developmental delay
OMIM:311250	OTC	5009	HP:0003217	Hyperglutaminemia
OMIM:311250	OTC	5009	HP:0001943	Hypoglycemia
OMIM:311250	OTC	5009	HP:0002013	Vomiting
OMIM:311250	OTC	5009	HP:0001297	Stroke
OMIM:311250	OTC	5009	HP:0001399	Hepatic failure
OMIM:614255	MBD5	55777	HP:0001371	Flexion contracture
OMIM:614255	MBD5	55777	HP:0002059	Cerebral atrophy
OMIM:614255	MBD5	55777	HP:0001762	Talipes equinovarus
OMIM:614255	MBD5	55777	HP:0001249	Intellectual disability
OMIM:614255	MBD5	55777	HP:0003487	Babinski sign
OMIM:614255	MBD5	55777	HP:0000639	Nystagmus
OMIM:614255	MBD5	55777	HP:0100704	Cortical visual impairment
OMIM:614255	MBD5	55777	HP:0000648	Optic atrophy
OMIM:614255	MBD5	55777	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	MBD5	55777	HP:0001272	Cerebellar atrophy
OMIM:614255	MBD5	55777	HP:0000252	Microcephaly
OMIM:614255	MBD5	55777	HP:0001347	Hyperreflexia
OMIM:614255	MBD5	55777	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	MBD5	55777	HP:0001257	Spasticity
OMIM:614255	MBD5	55777	HP:0001263	Global developmental delay
OMIM:614255	MBD5	55777	HP:0002540	Inability to walk
OMIM:614255	MBD5	55777	HP:0001250	Seizures
OMIM:614255	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:614255	CACNG2	10369	HP:0001371	Flexion contracture
OMIM:614255	CACNG2	10369	HP:0002059	Cerebral atrophy
OMIM:614255	CACNG2	10369	HP:0001762	Talipes equinovarus
OMIM:614255	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:614255	CACNG2	10369	HP:0003487	Babinski sign
OMIM:614255	CACNG2	10369	HP:0000639	Nystagmus
OMIM:614255	CACNG2	10369	HP:0100704	Cortical visual impairment
OMIM:614255	CACNG2	10369	HP:0000648	Optic atrophy
OMIM:614255	CACNG2	10369	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	CACNG2	10369	HP:0001272	Cerebellar atrophy
OMIM:614255	CACNG2	10369	HP:0000252	Microcephaly
OMIM:614255	CACNG2	10369	HP:0001347	Hyperreflexia
OMIM:614255	CACNG2	10369	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	CACNG2	10369	HP:0001257	Spasticity
OMIM:614255	CACNG2	10369	HP:0001263	Global developmental delay
OMIM:614255	CACNG2	10369	HP:0002540	Inability to walk
OMIM:614255	CACNG2	10369	HP:0001250	Seizures
OMIM:614255	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:614255	KIF1A	547	HP:0001371	Flexion contracture
OMIM:614255	KIF1A	547	HP:0002059	Cerebral atrophy
OMIM:614255	KIF1A	547	HP:0001762	Talipes equinovarus
OMIM:614255	KIF1A	547	HP:0001249	Intellectual disability
OMIM:614255	KIF1A	547	HP:0003487	Babinski sign
OMIM:614255	KIF1A	547	HP:0000639	Nystagmus
OMIM:614255	KIF1A	547	HP:0100704	Cortical visual impairment
OMIM:614255	KIF1A	547	HP:0000648	Optic atrophy
OMIM:614255	KIF1A	547	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	KIF1A	547	HP:0001272	Cerebellar atrophy
OMIM:614255	KIF1A	547	HP:0000252	Microcephaly
OMIM:614255	KIF1A	547	HP:0001347	Hyperreflexia
OMIM:614255	KIF1A	547	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	KIF1A	547	HP:0001257	Spasticity
OMIM:614255	KIF1A	547	HP:0001263	Global developmental delay
OMIM:614255	KIF1A	547	HP:0002540	Inability to walk
OMIM:614255	KIF1A	547	HP:0001250	Seizures
OMIM:614255	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:614255	DYRK1A	1859	HP:0001371	Flexion contracture
OMIM:614255	DYRK1A	1859	HP:0002059	Cerebral atrophy
OMIM:614255	DYRK1A	1859	HP:0001762	Talipes equinovarus
OMIM:614255	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:614255	DYRK1A	1859	HP:0003487	Babinski sign
OMIM:614255	DYRK1A	1859	HP:0000639	Nystagmus
OMIM:614255	DYRK1A	1859	HP:0100704	Cortical visual impairment
OMIM:614255	DYRK1A	1859	HP:0000648	Optic atrophy
OMIM:614255	DYRK1A	1859	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	DYRK1A	1859	HP:0001272	Cerebellar atrophy
OMIM:614255	DYRK1A	1859	HP:0000252	Microcephaly
OMIM:614255	DYRK1A	1859	HP:0001347	Hyperreflexia
OMIM:614255	DYRK1A	1859	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	DYRK1A	1859	HP:0001257	Spasticity
OMIM:614255	DYRK1A	1859	HP:0001263	Global developmental delay
OMIM:614255	DYRK1A	1859	HP:0002540	Inability to walk
OMIM:614255	DYRK1A	1859	HP:0001250	Seizures
OMIM:614255	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:614255	DOCK8	81704	HP:0001371	Flexion contracture
OMIM:614255	DOCK8	81704	HP:0002059	Cerebral atrophy
OMIM:614255	DOCK8	81704	HP:0001762	Talipes equinovarus
OMIM:614255	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:614255	DOCK8	81704	HP:0003487	Babinski sign
OMIM:614255	DOCK8	81704	HP:0000639	Nystagmus
OMIM:614255	DOCK8	81704	HP:0100704	Cortical visual impairment
OMIM:614255	DOCK8	81704	HP:0000648	Optic atrophy
OMIM:614255	DOCK8	81704	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	DOCK8	81704	HP:0001272	Cerebellar atrophy
OMIM:614255	DOCK8	81704	HP:0000252	Microcephaly
OMIM:614255	DOCK8	81704	HP:0001347	Hyperreflexia
OMIM:614255	DOCK8	81704	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	DOCK8	81704	HP:0001257	Spasticity
OMIM:614255	DOCK8	81704	HP:0001263	Global developmental delay
OMIM:614255	DOCK8	81704	HP:0002540	Inability to walk
OMIM:614255	DOCK8	81704	HP:0001250	Seizures
OMIM:614255	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:614255	TCF4	6925	HP:0001371	Flexion contracture
OMIM:614255	TCF4	6925	HP:0002059	Cerebral atrophy
OMIM:614255	TCF4	6925	HP:0001762	Talipes equinovarus
OMIM:614255	TCF4	6925	HP:0001249	Intellectual disability
OMIM:614255	TCF4	6925	HP:0003487	Babinski sign
OMIM:614255	TCF4	6925	HP:0000639	Nystagmus
OMIM:614255	TCF4	6925	HP:0100704	Cortical visual impairment
OMIM:614255	TCF4	6925	HP:0000648	Optic atrophy
OMIM:614255	TCF4	6925	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	TCF4	6925	HP:0001272	Cerebellar atrophy
OMIM:614255	TCF4	6925	HP:0000252	Microcephaly
OMIM:614255	TCF4	6925	HP:0001347	Hyperreflexia
OMIM:614255	TCF4	6925	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	TCF4	6925	HP:0001257	Spasticity
OMIM:614255	TCF4	6925	HP:0001263	Global developmental delay
OMIM:614255	TCF4	6925	HP:0002540	Inability to walk
OMIM:614255	TCF4	6925	HP:0001250	Seizures
OMIM:614255	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:614255	KIRREL3	84623	HP:0001371	Flexion contracture
OMIM:614255	KIRREL3	84623	HP:0002059	Cerebral atrophy
OMIM:614255	KIRREL3	84623	HP:0001762	Talipes equinovarus
OMIM:614255	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:614255	KIRREL3	84623	HP:0003487	Babinski sign
OMIM:614255	KIRREL3	84623	HP:0000639	Nystagmus
OMIM:614255	KIRREL3	84623	HP:0100704	Cortical visual impairment
OMIM:614255	KIRREL3	84623	HP:0000648	Optic atrophy
OMIM:614255	KIRREL3	84623	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	KIRREL3	84623	HP:0001272	Cerebellar atrophy
OMIM:614255	KIRREL3	84623	HP:0000252	Microcephaly
OMIM:614255	KIRREL3	84623	HP:0001347	Hyperreflexia
OMIM:614255	KIRREL3	84623	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	KIRREL3	84623	HP:0001257	Spasticity
OMIM:614255	KIRREL3	84623	HP:0001263	Global developmental delay
OMIM:614255	KIRREL3	84623	HP:0002540	Inability to walk
OMIM:614255	KIRREL3	84623	HP:0001250	Seizures
OMIM:614255	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:614255	DYNC1H1	1778	HP:0001371	Flexion contracture
OMIM:614255	DYNC1H1	1778	HP:0002059	Cerebral atrophy
OMIM:614255	DYNC1H1	1778	HP:0001762	Talipes equinovarus
OMIM:614255	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:614255	DYNC1H1	1778	HP:0003487	Babinski sign
OMIM:614255	DYNC1H1	1778	HP:0000639	Nystagmus
OMIM:614255	DYNC1H1	1778	HP:0100704	Cortical visual impairment
OMIM:614255	DYNC1H1	1778	HP:0000648	Optic atrophy
OMIM:614255	DYNC1H1	1778	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	DYNC1H1	1778	HP:0001272	Cerebellar atrophy
OMIM:614255	DYNC1H1	1778	HP:0000252	Microcephaly
OMIM:614255	DYNC1H1	1778	HP:0001347	Hyperreflexia
OMIM:614255	DYNC1H1	1778	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	DYNC1H1	1778	HP:0001257	Spasticity
OMIM:614255	DYNC1H1	1778	HP:0001263	Global developmental delay
OMIM:614255	DYNC1H1	1778	HP:0002540	Inability to walk
OMIM:614255	DYNC1H1	1778	HP:0001250	Seizures
OMIM:614255	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:614255	EPB41L1	2036	HP:0001371	Flexion contracture
OMIM:614255	EPB41L1	2036	HP:0002059	Cerebral atrophy
OMIM:614255	EPB41L1	2036	HP:0001762	Talipes equinovarus
OMIM:614255	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:614255	EPB41L1	2036	HP:0003487	Babinski sign
OMIM:614255	EPB41L1	2036	HP:0000639	Nystagmus
OMIM:614255	EPB41L1	2036	HP:0100704	Cortical visual impairment
OMIM:614255	EPB41L1	2036	HP:0000648	Optic atrophy
OMIM:614255	EPB41L1	2036	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	EPB41L1	2036	HP:0001272	Cerebellar atrophy
OMIM:614255	EPB41L1	2036	HP:0000252	Microcephaly
OMIM:614255	EPB41L1	2036	HP:0001347	Hyperreflexia
OMIM:614255	EPB41L1	2036	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	EPB41L1	2036	HP:0001257	Spasticity
OMIM:614255	EPB41L1	2036	HP:0001263	Global developmental delay
OMIM:614255	EPB41L1	2036	HP:0002540	Inability to walk
OMIM:614255	EPB41L1	2036	HP:0001250	Seizures
OMIM:614255	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:614255	CDH15	1013	HP:0001371	Flexion contracture
OMIM:614255	CDH15	1013	HP:0002059	Cerebral atrophy
OMIM:614255	CDH15	1013	HP:0001762	Talipes equinovarus
OMIM:614255	CDH15	1013	HP:0001249	Intellectual disability
OMIM:614255	CDH15	1013	HP:0003487	Babinski sign
OMIM:614255	CDH15	1013	HP:0000639	Nystagmus
OMIM:614255	CDH15	1013	HP:0100704	Cortical visual impairment
OMIM:614255	CDH15	1013	HP:0000648	Optic atrophy
OMIM:614255	CDH15	1013	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	CDH15	1013	HP:0001272	Cerebellar atrophy
OMIM:614255	CDH15	1013	HP:0000252	Microcephaly
OMIM:614255	CDH15	1013	HP:0001347	Hyperreflexia
OMIM:614255	CDH15	1013	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	CDH15	1013	HP:0001257	Spasticity
OMIM:614255	CDH15	1013	HP:0001263	Global developmental delay
OMIM:614255	CDH15	1013	HP:0002540	Inability to walk
OMIM:614255	CDH15	1013	HP:0001250	Seizures
OMIM:614255	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:614255	GRIN1	2902	HP:0001371	Flexion contracture
OMIM:614255	GRIN1	2902	HP:0002059	Cerebral atrophy
OMIM:614255	GRIN1	2902	HP:0001762	Talipes equinovarus
OMIM:614255	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:614255	GRIN1	2902	HP:0003487	Babinski sign
OMIM:614255	GRIN1	2902	HP:0000639	Nystagmus
OMIM:614255	GRIN1	2902	HP:0100704	Cortical visual impairment
OMIM:614255	GRIN1	2902	HP:0000648	Optic atrophy
OMIM:614255	GRIN1	2902	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	GRIN1	2902	HP:0001272	Cerebellar atrophy
OMIM:614255	GRIN1	2902	HP:0000252	Microcephaly
OMIM:614255	GRIN1	2902	HP:0001347	Hyperreflexia
OMIM:614255	GRIN1	2902	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	GRIN1	2902	HP:0001257	Spasticity
OMIM:614255	GRIN1	2902	HP:0001263	Global developmental delay
OMIM:614255	GRIN1	2902	HP:0002540	Inability to walk
OMIM:614255	GRIN1	2902	HP:0001250	Seizures
OMIM:614255	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:614255	GRIN2B	2904	HP:0001371	Flexion contracture
OMIM:614255	GRIN2B	2904	HP:0002059	Cerebral atrophy
OMIM:614255	GRIN2B	2904	HP:0001762	Talipes equinovarus
OMIM:614255	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:614255	GRIN2B	2904	HP:0003487	Babinski sign
OMIM:614255	GRIN2B	2904	HP:0000639	Nystagmus
OMIM:614255	GRIN2B	2904	HP:0100704	Cortical visual impairment
OMIM:614255	GRIN2B	2904	HP:0000648	Optic atrophy
OMIM:614255	GRIN2B	2904	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	GRIN2B	2904	HP:0001272	Cerebellar atrophy
OMIM:614255	GRIN2B	2904	HP:0000252	Microcephaly
OMIM:614255	GRIN2B	2904	HP:0001347	Hyperreflexia
OMIM:614255	GRIN2B	2904	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	GRIN2B	2904	HP:0001257	Spasticity
OMIM:614255	GRIN2B	2904	HP:0001263	Global developmental delay
OMIM:614255	GRIN2B	2904	HP:0002540	Inability to walk
OMIM:614255	GRIN2B	2904	HP:0001250	Seizures
OMIM:614255	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:614255	DEAF1	10522	HP:0001371	Flexion contracture
OMIM:614255	DEAF1	10522	HP:0002059	Cerebral atrophy
OMIM:614255	DEAF1	10522	HP:0001762	Talipes equinovarus
OMIM:614255	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:614255	DEAF1	10522	HP:0003487	Babinski sign
OMIM:614255	DEAF1	10522	HP:0000639	Nystagmus
OMIM:614255	DEAF1	10522	HP:0100704	Cortical visual impairment
OMIM:614255	DEAF1	10522	HP:0000648	Optic atrophy
OMIM:614255	DEAF1	10522	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	DEAF1	10522	HP:0001272	Cerebellar atrophy
OMIM:614255	DEAF1	10522	HP:0000252	Microcephaly
OMIM:614255	DEAF1	10522	HP:0001347	Hyperreflexia
OMIM:614255	DEAF1	10522	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	DEAF1	10522	HP:0001257	Spasticity
OMIM:614255	DEAF1	10522	HP:0001263	Global developmental delay
OMIM:614255	DEAF1	10522	HP:0002540	Inability to walk
OMIM:614255	DEAF1	10522	HP:0001250	Seizures
OMIM:614255	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:614255	SYNGAP1	8831	HP:0001371	Flexion contracture
OMIM:614255	SYNGAP1	8831	HP:0002059	Cerebral atrophy
OMIM:614255	SYNGAP1	8831	HP:0001762	Talipes equinovarus
OMIM:614255	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:614255	SYNGAP1	8831	HP:0003487	Babinski sign
OMIM:614255	SYNGAP1	8831	HP:0000639	Nystagmus
OMIM:614255	SYNGAP1	8831	HP:0100704	Cortical visual impairment
OMIM:614255	SYNGAP1	8831	HP:0000648	Optic atrophy
OMIM:614255	SYNGAP1	8831	HP:0008936	Muscular hypotonia of the trunk
OMIM:614255	SYNGAP1	8831	HP:0001272	Cerebellar atrophy
OMIM:614255	SYNGAP1	8831	HP:0000252	Microcephaly
OMIM:614255	SYNGAP1	8831	HP:0001347	Hyperreflexia
OMIM:614255	SYNGAP1	8831	HP:0003477	Peripheral axonal neuropathy
OMIM:614255	SYNGAP1	8831	HP:0001257	Spasticity
OMIM:614255	SYNGAP1	8831	HP:0001263	Global developmental delay
OMIM:614255	SYNGAP1	8831	HP:0002540	Inability to walk
OMIM:614255	SYNGAP1	8831	HP:0001250	Seizures
OMIM:614255	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:615034	ANO3	63982	HP:0000473	Torticollis
OMIM:615034	ANO3	63982	HP:0003829	Incomplete penetrance
OMIM:615034	ANO3	63982	HP:0000006	Autosomal dominant inheritance
OMIM:615034	ANO3	63982	HP:0000643	Blepharospasm
OMIM:124480	ATP6V1B2	526	HP:0001770	Toe syndactyly
OMIM:124480	ATP6V1B2	526	HP:0001792	Small nail
OMIM:124480	ATP6V1B2	526	HP:0000006	Autosomal dominant inheritance
OMIM:124480	ATP6V1B2	526	HP:0003577	Congenital onset
OMIM:124480	ATP6V1B2	526	HP:0001199	Triphalangeal thumb
OMIM:124480	ATP6V1B2	526	HP:0000407	Sensorineural hearing impairment
OMIM:124480	ATP6V1B2	526	HP:0008404	Nail dystrophy
OMIM:124480	ATP6V1B2	526	HP:0001592	Selective tooth agenesis
OMIM:124480	ATP6V1B2	526	HP:0001798	Anonychia
OMIM:124480	ATP6V1B2	526	HP:0001156	Brachydactyly syndrome
OMIM:615807	ATR	545	HP:0001263	Global developmental delay
OMIM:615807	ATR	545	HP:0000444	Convex nasal ridge
OMIM:615807	ATR	545	HP:0000086	Ectopic kidney
OMIM:615807	ATR	545	HP:0001249	Intellectual disability
OMIM:615807	ATR	545	HP:0004322	Short stature
OMIM:615807	ATR	545	HP:0000347	Micrognathia
OMIM:615807	ATR	545	HP:0000252	Microcephaly
OMIM:615807	ATR	545	HP:0002176	Spinal cord compression
OMIM:615807	ATR	545	HP:0002751	Kyphoscoliosis
OMIM:615807	DNA2	1763	HP:0001263	Global developmental delay
OMIM:615807	DNA2	1763	HP:0000444	Convex nasal ridge
OMIM:615807	DNA2	1763	HP:0000086	Ectopic kidney
OMIM:615807	DNA2	1763	HP:0001249	Intellectual disability
OMIM:615807	DNA2	1763	HP:0004322	Short stature
OMIM:615807	DNA2	1763	HP:0000347	Micrognathia
OMIM:615807	DNA2	1763	HP:0000252	Microcephaly
OMIM:615807	DNA2	1763	HP:0002176	Spinal cord compression
OMIM:615807	DNA2	1763	HP:0002751	Kyphoscoliosis
OMIM:615807	CEP152	22995	HP:0001263	Global developmental delay
OMIM:615807	CEP152	22995	HP:0000444	Convex nasal ridge
OMIM:615807	CEP152	22995	HP:0000086	Ectopic kidney
OMIM:615807	CEP152	22995	HP:0001249	Intellectual disability
OMIM:615807	CEP152	22995	HP:0004322	Short stature
OMIM:615807	CEP152	22995	HP:0000347	Micrognathia
OMIM:615807	CEP152	22995	HP:0000252	Microcephaly
OMIM:615807	CEP152	22995	HP:0002176	Spinal cord compression
OMIM:615807	CEP152	22995	HP:0002751	Kyphoscoliosis
OMIM:615807	CENPE	1062	HP:0001263	Global developmental delay
OMIM:615807	CENPE	1062	HP:0000444	Convex nasal ridge
OMIM:615807	CENPE	1062	HP:0000086	Ectopic kidney
OMIM:615807	CENPE	1062	HP:0001249	Intellectual disability
OMIM:615807	CENPE	1062	HP:0004322	Short stature
OMIM:615807	CENPE	1062	HP:0000347	Micrognathia
OMIM:615807	CENPE	1062	HP:0000252	Microcephaly
OMIM:615807	CENPE	1062	HP:0002176	Spinal cord compression
OMIM:615807	CENPE	1062	HP:0002751	Kyphoscoliosis
OMIM:615807	CENPJ	55835	HP:0001263	Global developmental delay
OMIM:615807	CENPJ	55835	HP:0000444	Convex nasal ridge
OMIM:615807	CENPJ	55835	HP:0000086	Ectopic kidney
OMIM:615807	CENPJ	55835	HP:0001249	Intellectual disability
OMIM:615807	CENPJ	55835	HP:0004322	Short stature
OMIM:615807	CENPJ	55835	HP:0000347	Micrognathia
OMIM:615807	CENPJ	55835	HP:0000252	Microcephaly
OMIM:615807	CENPJ	55835	HP:0002176	Spinal cord compression
OMIM:615807	CENPJ	55835	HP:0002751	Kyphoscoliosis
OMIM:615807	PCNT	5116	HP:0001263	Global developmental delay
OMIM:615807	PCNT	5116	HP:0000444	Convex nasal ridge
OMIM:615807	PCNT	5116	HP:0000086	Ectopic kidney
OMIM:615807	PCNT	5116	HP:0001249	Intellectual disability
OMIM:615807	PCNT	5116	HP:0004322	Short stature
OMIM:615807	PCNT	5116	HP:0000347	Micrognathia
OMIM:615807	PCNT	5116	HP:0000252	Microcephaly
OMIM:615807	PCNT	5116	HP:0002176	Spinal cord compression
OMIM:615807	PCNT	5116	HP:0002751	Kyphoscoliosis
OMIM:615807	RBBP8	5932	HP:0001263	Global developmental delay
OMIM:615807	RBBP8	5932	HP:0000444	Convex nasal ridge
OMIM:615807	RBBP8	5932	HP:0000086	Ectopic kidney
OMIM:615807	RBBP8	5932	HP:0001249	Intellectual disability
OMIM:615807	RBBP8	5932	HP:0004322	Short stature
OMIM:615807	RBBP8	5932	HP:0000347	Micrognathia
OMIM:615807	RBBP8	5932	HP:0000252	Microcephaly
OMIM:615807	RBBP8	5932	HP:0002176	Spinal cord compression
OMIM:615807	RBBP8	5932	HP:0002751	Kyphoscoliosis
OMIM:615807	PLK4	10733	HP:0001263	Global developmental delay
OMIM:615807	PLK4	10733	HP:0000444	Convex nasal ridge
OMIM:615807	PLK4	10733	HP:0000086	Ectopic kidney
OMIM:615807	PLK4	10733	HP:0001249	Intellectual disability
OMIM:615807	PLK4	10733	HP:0004322	Short stature
OMIM:615807	PLK4	10733	HP:0000347	Micrognathia
OMIM:615807	PLK4	10733	HP:0000252	Microcephaly
OMIM:615807	PLK4	10733	HP:0002176	Spinal cord compression
OMIM:615807	PLK4	10733	HP:0002751	Kyphoscoliosis
OMIM:615807	ATRIP	84126	HP:0001263	Global developmental delay
OMIM:615807	ATRIP	84126	HP:0000444	Convex nasal ridge
OMIM:615807	ATRIP	84126	HP:0000086	Ectopic kidney
OMIM:615807	ATRIP	84126	HP:0001249	Intellectual disability
OMIM:615807	ATRIP	84126	HP:0004322	Short stature
OMIM:615807	ATRIP	84126	HP:0000347	Micrognathia
OMIM:615807	ATRIP	84126	HP:0000252	Microcephaly
OMIM:615807	ATRIP	84126	HP:0002176	Spinal cord compression
OMIM:615807	ATRIP	84126	HP:0002751	Kyphoscoliosis
OMIM:613615	WDR19	57728	HP:0000546	Retinal degeneration
OMIM:613615	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:613615	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:613615	CEP164	22897	HP:0000546	Retinal degeneration
OMIM:613615	CEP164	22897	HP:0000090	Nephronophthisis
OMIM:613615	CEP164	22897	HP:0000007	Autosomal recessive inheritance
OMIM:613615	TRAF3IP1	26146	HP:0000546	Retinal degeneration
OMIM:613615	TRAF3IP1	26146	HP:0000090	Nephronophthisis
OMIM:613615	TRAF3IP1	26146	HP:0000007	Autosomal recessive inheritance
OMIM:613615	NPHP1	4867	HP:0000546	Retinal degeneration
OMIM:613615	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:613615	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:613615	NPHP4	261734	HP:0000546	Retinal degeneration
OMIM:613615	NPHP4	261734	HP:0000090	Nephronophthisis
OMIM:613615	NPHP4	261734	HP:0000007	Autosomal recessive inheritance
OMIM:613615	SDCCAG8	10806	HP:0000546	Retinal degeneration
OMIM:613615	SDCCAG8	10806	HP:0000090	Nephronophthisis
OMIM:613615	SDCCAG8	10806	HP:0000007	Autosomal recessive inheritance
OMIM:613615	NPHP3	27031	HP:0000546	Retinal degeneration
OMIM:613615	NPHP3	27031	HP:0000090	Nephronophthisis
OMIM:613615	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:613615	CEP290	80184	HP:0000546	Retinal degeneration
OMIM:613615	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:613615	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:613615	IQCB1	9657	HP:0000546	Retinal degeneration
OMIM:613615	IQCB1	9657	HP:0000090	Nephronophthisis
OMIM:613615	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:613615	INVS	27130	HP:0000546	Retinal degeneration
OMIM:613615	INVS	27130	HP:0000090	Nephronophthisis
OMIM:613615	INVS	27130	HP:0000007	Autosomal recessive inheritance
OMIM:610357	KIF1A	547	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:610357	KIF1A	547	HP:0001310	Dysmetria
OMIM:610357	KIF1A	547	HP:0011448	Ankle clonus
OMIM:610357	KIF1A	547	HP:0001258	Spastic paraplegia
OMIM:610357	KIF1A	547	HP:0003487	Babinski sign
OMIM:610357	KIF1A	547	HP:0000007	Autosomal recessive inheritance
OMIM:610357	KIF1A	547	HP:0003677	Slow progression
OMIM:610357	KIF1A	547	HP:0002064	Spastic gait
OMIM:610357	KIF1A	547	HP:0003477	Peripheral axonal neuropathy
OMIM:610357	KIF1A	547	HP:0001272	Cerebellar atrophy
OMIM:610357	KIF1A	547	HP:0001347	Hyperreflexia
OMIM:610357	KIF1A	547	HP:0007340	Lower limb muscle weakness
OMIM:610357	KIF1A	547	HP:0007210	Lower limb amyotrophy
OMIM:610357	KIF1A	547	HP:0002061	Lower limb spasticity
OMIM:600273	TSC2	7249	HP:0000113	Polycystic kidney dysplasia
OMIM:600273	TSC2	7249	HP:0000006	Autosomal dominant inheritance
OMIM:600273	PKD1	5310	HP:0000113	Polycystic kidney dysplasia
OMIM:600273	PKD1	5310	HP:0000006	Autosomal dominant inheritance
OMIM:608776	ALG9	79796	HP:0001252	Muscular hypotonia
OMIM:608776	ALG9	79796	HP:0001399	Hepatic failure
OMIM:608776	ALG9	79796	HP:0100543	Cognitive impairment
OMIM:608776	ALG9	79796	HP:0001250	Seizures
OMIM:235550	SP110	3431	HP:0006685	Endocardial fibrosis
OMIM:235550	SP110	3431	HP:0000252	Microcephaly
OMIM:235550	SP110	3431	HP:0001392	Abnormality of the liver
OMIM:235550	SP110	3431	HP:0000007	Autosomal recessive inheritance
OMIM:235550	SP110	3431	HP:0002721	Immunodeficiency
OMIM:235550	SP110	3431	HP:0004315	IgG deficiency
OMIM:188050	F2	2147	HP:0000006	Autosomal dominant inheritance
OMIM:188050	F2	2147	HP:0011463	Childhood onset
OMIM:188050	F2	2147	HP:0002204	Pulmonary embolism
OMIM:188050	F2	2147	HP:0001907	Thromboembolism
OMIM:613794	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613794	RLBP1	6017	HP:0000505	Visual impairment
OMIM:613794	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613794	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613794	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613794	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613794	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613794	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613794	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613794	ARL6	84100	HP:0000505	Visual impairment
OMIM:613794	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613794	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613794	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613794	CERKL	375298	HP:0000505	Visual impairment
OMIM:613794	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613794	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613794	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613794	PRPF31	26121	HP:0000505	Visual impairment
OMIM:613794	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613794	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613794	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613794	TTC8	123016	HP:0000505	Visual impairment
OMIM:613794	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613794	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613794	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613794	PROM1	8842	HP:0000505	Visual impairment
OMIM:613794	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613794	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613794	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613794	LRAT	9227	HP:0000505	Visual impairment
OMIM:613794	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613794	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613794	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613794	IFT140	9742	HP:0000505	Visual impairment
OMIM:613794	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613794	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613794	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613794	BEST1	7439	HP:0000505	Visual impairment
OMIM:613794	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613794	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613794	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613794	NEK2	4751	HP:0000505	Visual impairment
OMIM:613794	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613794	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613794	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613794	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:613794	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613794	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613794	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613794	NR2E3	10002	HP:0000505	Visual impairment
OMIM:613794	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613794	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613794	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613794	EYS	346007	HP:0000505	Visual impairment
OMIM:613794	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	EYS	346007	HP:0000662	Nyctalopia
OMIM:613794	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613794	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613794	MAK	4117	HP:0000505	Visual impairment
OMIM:613794	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	MAK	4117	HP:0000662	Nyctalopia
OMIM:613794	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613794	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613794	SAG	6295	HP:0000505	Visual impairment
OMIM:613794	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	SAG	6295	HP:0000662	Nyctalopia
OMIM:613794	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613794	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613794	ABCA4	24	HP:0000505	Visual impairment
OMIM:613794	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613794	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613794	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613794	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613794	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613794	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613794	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613794	PDE6G	5148	HP:0000505	Visual impairment
OMIM:613794	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613794	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613794	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613794	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613794	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613794	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613794	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613794	OFD1	8481	HP:0000505	Visual impairment
OMIM:613794	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613794	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613794	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613794	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613794	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613794	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613794	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613794	NRL	4901	HP:0000505	Visual impairment
OMIM:613794	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	NRL	4901	HP:0000662	Nyctalopia
OMIM:613794	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613794	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613794	PDE6B	5158	HP:0000505	Visual impairment
OMIM:613794	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613794	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613794	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613794	KLHL7	55975	HP:0000505	Visual impairment
OMIM:613794	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613794	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613794	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613794	PRPF4	9128	HP:0000505	Visual impairment
OMIM:613794	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613794	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613794	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613794	PRPF3	9129	HP:0000505	Visual impairment
OMIM:613794	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613794	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613794	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613794	FAM161A	84140	HP:0000505	Visual impairment
OMIM:613794	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613794	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613794	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613794	IFT172	26160	HP:0000505	Visual impairment
OMIM:613794	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613794	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613794	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613794	KIZ	55857	HP:0000505	Visual impairment
OMIM:613794	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613794	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613794	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613794	CDHR1	92211	HP:0000505	Visual impairment
OMIM:613794	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613794	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613794	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613794	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613794	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613794	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613794	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613794	RBP3	5949	HP:0000505	Visual impairment
OMIM:613794	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613794	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613794	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613794	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:613794	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613794	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613794	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613794	FSCN2	25794	HP:0000505	Visual impairment
OMIM:613794	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613794	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613794	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613794	PRCD	768206	HP:0000505	Visual impairment
OMIM:613794	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613794	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613794	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613794	BBS2	583	HP:0000505	Visual impairment
OMIM:613794	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	BBS2	583	HP:0000662	Nyctalopia
OMIM:613794	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613794	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613794	RDH12	145226	HP:0000505	Visual impairment
OMIM:613794	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613794	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613794	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613794	PRPH2	5961	HP:0000505	Visual impairment
OMIM:613794	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613794	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613794	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613794	DHDDS	79947	HP:0000505	Visual impairment
OMIM:613794	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613794	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613794	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613794	ROM1	6094	HP:0000505	Visual impairment
OMIM:613794	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613794	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613794	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613794	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613794	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613794	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613794	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613794	RP9	6100	HP:0000505	Visual impairment
OMIM:613794	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	RP9	6100	HP:0000662	Nyctalopia
OMIM:613794	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613794	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613794	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613794	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613794	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613794	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613794	RP1	6101	HP:0000505	Visual impairment
OMIM:613794	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	RP1	6101	HP:0000662	Nyctalopia
OMIM:613794	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613794	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613794	RP2	6102	HP:0000505	Visual impairment
OMIM:613794	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	RP2	6102	HP:0000662	Nyctalopia
OMIM:613794	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613794	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613794	RPGR	6103	HP:0000505	Visual impairment
OMIM:613794	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613794	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613794	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613794	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:613794	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613794	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613794	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613794	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:613794	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613794	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613794	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613794	IDH3B	3420	HP:0000505	Visual impairment
OMIM:613794	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613794	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613794	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613794	MERTK	10461	HP:0000505	Visual impairment
OMIM:613794	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613794	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613794	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613794	PRPF8	10594	HP:0000505	Visual impairment
OMIM:613794	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613794	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613794	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613794	TOPORS	10210	HP:0000505	Visual impairment
OMIM:613794	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613794	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613794	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613794	USH2A	7399	HP:0000505	Visual impairment
OMIM:613794	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613794	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613794	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613794	RPE65	6121	HP:0000505	Visual impairment
OMIM:613794	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613794	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613794	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613794	CLRN1	7401	HP:0000505	Visual impairment
OMIM:613794	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613794	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613794	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613794	CNGB1	1258	HP:0000505	Visual impairment
OMIM:613794	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613794	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613794	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613794	RGR	5995	HP:0000505	Visual impairment
OMIM:613794	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	RGR	5995	HP:0000662	Nyctalopia
OMIM:613794	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613794	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613794	CNGA1	1259	HP:0000505	Visual impairment
OMIM:613794	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613794	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613794	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613794	TUB	7275	HP:0000505	Visual impairment
OMIM:613794	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	TUB	7275	HP:0000662	Nyctalopia
OMIM:613794	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613794	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613794	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:613794	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613794	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613794	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613794	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:613794	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613794	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613794	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613794	TULP1	7287	HP:0000505	Visual impairment
OMIM:613794	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613794	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613794	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613794	RHO	6010	HP:0000505	Visual impairment
OMIM:613794	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	RHO	6010	HP:0000662	Nyctalopia
OMIM:613794	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613794	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613794	CA4	762	HP:0000505	Visual impairment
OMIM:613794	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	CA4	762	HP:0000662	Nyctalopia
OMIM:613794	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613794	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613794	CRB1	23418	HP:0000505	Visual impairment
OMIM:613794	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613794	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613794	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613794	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613794	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613794	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613794	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613794	ZNF513	130557	HP:0000505	Visual impairment
OMIM:613794	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613794	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613794	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613794	CRX	1406	HP:0000505	Visual impairment
OMIM:613794	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:613794	CRX	1406	HP:0000662	Nyctalopia
OMIM:613794	CRX	1406	HP:0000007	Autosomal recessive inheritance
ORPHANET:251066	ANK1	286	HP:0000174	Abnormality of the palate
ORPHANET:251066	ANK1	286	HP:0000612	Iris coloboma
ORPHANET:251066	ANK1	286	HP:0004322	Short stature
ORPHANET:251066	ANK1	286	HP:0000532	Chorioretinal abnormality
ORPHANET:251066	ANK1	286	HP:0000581	Blepharophimosis
ORPHANET:251066	ANK1	286	HP:0000772	Abnormality of the ribs
ORPHANET:251066	ANK1	286	HP:0001631	Atria septal defect
ORPHANET:251066	ANK1	286	HP:0000286	Epicanthus
ORPHANET:251066	ANK1	286	HP:0001883	Talipes
ORPHANET:251066	ANK1	286	HP:0000482	Microcornea
ORPHANET:251066	ANK1	286	HP:0008572	External ear malformation
ORPHANET:251066	ANK1	286	HP:0000028	Cryptorchidism
ORPHANET:251066	ANK1	286	HP:0000252	Microcephaly
ORPHANET:251066	ANK1	286	HP:0001250	Seizures
ORPHANET:251066	ANK1	286	HP:0000383	Abnormality of periauricular region
ORPHANET:251066	ANK1	286	HP:0000639	Nystagmus
ORPHANET:251066	ANK1	286	HP:0001878	Hemolytic anemia
ORPHANET:251066	ANK1	286	HP:0008736	Hypoplasia of penis
ORPHANET:251066	ANK1	286	HP:0001633	Abnormality of the mitral valve
ORPHANET:251066	ANK1	286	HP:0004408	Abnormality of the sense of smell
ORPHANET:251066	ANK1	286	HP:0100543	Cognitive impairment
ORPHANET:251066	ANK1	286	HP:0001643	Patent ductus arteriosus
ORPHANET:251066	ANK1	286	HP:0000347	Micrognathia
ORPHANET:251066	ANK1	286	HP:0001744	Splenomegaly
ORPHANET:251066	ANK1	286	HP:0000316	Hypertelorism
ORPHANET:251066	ANK1	286	HP:0000582	Upslanted palpebral fissure
ORPHANET:251066	ANK1	286	HP:0005280	Depressed nasal bridge
ORPHANET:251066	ANK1	286	HP:0000830	Anterior hypopituitarism
ORPHANET:251066	ANK1	286	HP:0000960	Sacral dimple
ORPHANET:251066	ANK1	286	HP:0000025	Functional abnormality of male internal genitalia
OMIM:613608	CNTN2	6900	HP:0002069	Generalized tonic-clonic seizures
OMIM:613608	CNTN2	6900	HP:0003680	Nonprogressive
OMIM:613608	CNTN2	6900	HP:0011463	Childhood onset
OMIM:613608	CNTN2	6900	HP:0003581	Adult onset
OMIM:613608	CNTN2	6900	HP:0007359	Focal seizures
OMIM:613608	CNTN2	6900	HP:0002355	Difficulty walking
OMIM:613608	CNTN2	6900	HP:0000006	Autosomal dominant inheritance
OMIM:613608	CNTN2	6900	HP:0001337	Tremor
OMIM:613608	CNTN2	6900	HP:0001336	Myoclonus
OMIM:613608	ADRA2B	151	HP:0002069	Generalized tonic-clonic seizures
OMIM:613608	ADRA2B	151	HP:0003680	Nonprogressive
OMIM:613608	ADRA2B	151	HP:0011463	Childhood onset
OMIM:613608	ADRA2B	151	HP:0003581	Adult onset
OMIM:613608	ADRA2B	151	HP:0007359	Focal seizures
OMIM:613608	ADRA2B	151	HP:0002355	Difficulty walking
OMIM:613608	ADRA2B	151	HP:0000006	Autosomal dominant inheritance
OMIM:613608	ADRA2B	151	HP:0001337	Tremor
OMIM:613608	ADRA2B	151	HP:0001336	Myoclonus
OMIM:245050	OXCT1	5019	HP:0002789	Tachypnea
OMIM:245050	OXCT1	5019	HP:0000007	Autosomal recessive inheritance
OMIM:245050	OXCT1	5019	HP:0002013	Vomiting
OMIM:245050	OXCT1	5019	HP:0002919	Ketonuria
OMIM:141750	HBA2	3040	HP:0000316	Hypertelorism
OMIM:141750	HBA2	3040	HP:0000252	Microcephaly
OMIM:141750	HBA2	3040	HP:0000463	Anteverted nares
OMIM:141750	HBA2	3040	HP:0009891	Underdeveloped supraorbital ridges
OMIM:141750	HBA2	3040	HP:0001252	Muscular hypotonia
OMIM:141750	HBA2	3040	HP:0000465	Webbed neck
OMIM:141750	HBA2	3040	HP:0002167	Neurological speech impairment
OMIM:141750	HBA2	3040	HP:0000028	Cryptorchidism
OMIM:141750	HBA2	3040	HP:0000286	Epicanthus
OMIM:141750	HBA2	3040	HP:0004322	Short stature
OMIM:141750	HBA2	3040	HP:0000347	Micrognathia
OMIM:141750	HBA2	3040	HP:0000348	High forehead
OMIM:141750	HBA2	3040	HP:0001555	Asymmetry of the thorax
OMIM:141750	HBA2	3040	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:141750	HBA2	3040	HP:0000978	Bruising susceptibility
OMIM:141750	HBA2	3040	HP:0000368	Low-set, posteriorly rotated ears
OMIM:141750	HBA2	3040	HP:0000158	Macroglossia
OMIM:141750	HBA2	3040	HP:0002558	Supernumerary nipple
OMIM:141750	HBA2	3040	HP:0000508	Ptosis
OMIM:141750	HBA2	3040	HP:0000337	Broad forehead
OMIM:141750	HBA2	3040	HP:0000678	Dental crowding
OMIM:141750	HBA2	3040	HP:0000006	Autosomal dominant inheritance
OMIM:141750	HBA2	3040	HP:0000431	Wide nasal bridge
OMIM:141750	HBA2	3040	HP:0001249	Intellectual disability
OMIM:141750	HBA2	3040	HP:0100543	Cognitive impairment
OMIM:141750	HBA2	3040	HP:0001371	Flexion contracture
OMIM:141750	HBA2	3040	HP:0001643	Patent ductus arteriosus
OMIM:141750	HBA2	3040	HP:0000047	Hypospadias
OMIM:141750	HBA2	3040	HP:0000054	Micropenis
OMIM:141750	HBA2	3040	HP:0001831	Short toe
OMIM:141750	HBA2	3040	HP:0000470	Short neck
OMIM:141750	HBA2	3040	HP:0000768	Pectus carinatum
OMIM:141750	HBA2	3040	HP:0002007	Frontal bossing
OMIM:141750	HBA2	3040	HP:0000272	Malar flattening
OMIM:141750	HBA2	3040	HP:0000494	Downslanted palpebral fissures
OMIM:141750	HBA2	3040	HP:0005280	Depressed nasal bridge
OMIM:141750	HBA2	3040	HP:0010808	Protruding tongue
OMIM:141750	HBA2	3040	HP:0000343	Long philtrum
OMIM:141750	HBA2	3040	HP:0008551	Microtia
OMIM:141750	HBA2	3040	HP:0001250	Seizures
OMIM:141750	HBA2	3040	HP:0009466	Radial deviation of finger
OMIM:141750	HBA2	3040	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:141750	HBA2	3040	HP:0000218	High palate
OMIM:141750	HBA2	3040	HP:0000278	Retrognathia
OMIM:141750	HBA2	3040	HP:0003812	Phenotypic variability
OMIM:141750	HBA2	3040	HP:0001762	Talipes equinovarus
OMIM:141750	HBA1	3039	HP:0000316	Hypertelorism
OMIM:141750	HBA1	3039	HP:0000252	Microcephaly
OMIM:141750	HBA1	3039	HP:0000463	Anteverted nares
OMIM:141750	HBA1	3039	HP:0009891	Underdeveloped supraorbital ridges
OMIM:141750	HBA1	3039	HP:0001252	Muscular hypotonia
OMIM:141750	HBA1	3039	HP:0000465	Webbed neck
OMIM:141750	HBA1	3039	HP:0002167	Neurological speech impairment
OMIM:141750	HBA1	3039	HP:0000028	Cryptorchidism
OMIM:141750	HBA1	3039	HP:0000286	Epicanthus
OMIM:141750	HBA1	3039	HP:0004322	Short stature
OMIM:141750	HBA1	3039	HP:0000347	Micrognathia
OMIM:141750	HBA1	3039	HP:0000348	High forehead
OMIM:141750	HBA1	3039	HP:0001555	Asymmetry of the thorax
OMIM:141750	HBA1	3039	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:141750	HBA1	3039	HP:0000978	Bruising susceptibility
OMIM:141750	HBA1	3039	HP:0000368	Low-set, posteriorly rotated ears
OMIM:141750	HBA1	3039	HP:0000158	Macroglossia
OMIM:141750	HBA1	3039	HP:0002558	Supernumerary nipple
OMIM:141750	HBA1	3039	HP:0000508	Ptosis
OMIM:141750	HBA1	3039	HP:0000337	Broad forehead
OMIM:141750	HBA1	3039	HP:0000678	Dental crowding
OMIM:141750	HBA1	3039	HP:0000006	Autosomal dominant inheritance
OMIM:141750	HBA1	3039	HP:0000431	Wide nasal bridge
OMIM:141750	HBA1	3039	HP:0001249	Intellectual disability
OMIM:141750	HBA1	3039	HP:0100543	Cognitive impairment
OMIM:141750	HBA1	3039	HP:0001371	Flexion contracture
OMIM:141750	HBA1	3039	HP:0001643	Patent ductus arteriosus
OMIM:141750	HBA1	3039	HP:0000047	Hypospadias
OMIM:141750	HBA1	3039	HP:0000054	Micropenis
OMIM:141750	HBA1	3039	HP:0001831	Short toe
OMIM:141750	HBA1	3039	HP:0000470	Short neck
OMIM:141750	HBA1	3039	HP:0000768	Pectus carinatum
OMIM:141750	HBA1	3039	HP:0002007	Frontal bossing
OMIM:141750	HBA1	3039	HP:0000272	Malar flattening
OMIM:141750	HBA1	3039	HP:0000494	Downslanted palpebral fissures
OMIM:141750	HBA1	3039	HP:0005280	Depressed nasal bridge
OMIM:141750	HBA1	3039	HP:0010808	Protruding tongue
OMIM:141750	HBA1	3039	HP:0000343	Long philtrum
OMIM:141750	HBA1	3039	HP:0008551	Microtia
OMIM:141750	HBA1	3039	HP:0001250	Seizures
OMIM:141750	HBA1	3039	HP:0009466	Radial deviation of finger
OMIM:141750	HBA1	3039	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:141750	HBA1	3039	HP:0000218	High palate
OMIM:141750	HBA1	3039	HP:0000278	Retrognathia
OMIM:141750	HBA1	3039	HP:0003812	Phenotypic variability
OMIM:141750	HBA1	3039	HP:0001762	Talipes equinovarus
ORPHANET:261144	FOXG1	2290	HP:0003196	Short nose
ORPHANET:261144	FOXG1	2290	HP:0000232	Everted lower lip vermilion
ORPHANET:261144	FOXG1	2290	HP:0001250	Seizures
ORPHANET:261144	FOXG1	2290	HP:0000288	Abnormality of the philtrum
ORPHANET:261144	FOXG1	2290	HP:0000581	Blepharophimosis
ORPHANET:261144	FOXG1	2290	HP:0002376	Developmental regression
ORPHANET:261144	FOXG1	2290	HP:0001252	Muscular hypotonia
ORPHANET:261144	FOXG1	2290	HP:0000252	Microcephaly
ORPHANET:261144	FOXG1	2290	HP:0000303	Mandibular prognathia
ORPHANET:261144	FOXG1	2290	HP:0000286	Epicanthus
ORPHANET:261144	FOXG1	2290	HP:0100022	Abnormality of movement
ORPHANET:261144	FOXG1	2290	HP:0009738	Abnormality of the antihelix
ORPHANET:261144	FOXG1	2290	HP:0002650	Scoliosis
ORPHANET:261144	FOXG1	2290	HP:0100543	Cognitive impairment
ORPHANET:261144	FOXG1	2290	HP:0010804	Tented upper lip vermilion
ORPHANET:261144	FOXG1	2290	HP:0003781	Excessive salivation
ORPHANET:261144	FOXG1	2290	HP:0002808	Kyphosis
ORPHANET:261144	FOXG1	2290	HP:0005280	Depressed nasal bridge
ORPHANET:261144	FOXG1	2290	HP:0000733	Stereotypic behavior
ORPHANET:261144	FOXG1	2290	HP:0002167	Neurological speech impairment
ORPHANET:261144	FOXG1	2290	HP:0000494	Downslanted palpebral fissures
ORPHANET:261144	FOXG1	2290	HP:0000157	Abnormality of the tongue
ORPHANET:261144	FOXG1	2290	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:300554	CLCN5	1184	HP:0001419	X-linked recessive inheritance
OMIM:300554	CLCN5	1184	HP:0012622	Chronic kidney disease
OMIM:300554	CLCN5	1184	HP:0002982	Tibial bowing
OMIM:300554	CLCN5	1184	HP:0002980	Femoral bowing
OMIM:300554	CLCN5	1184	HP:0002979	Bowing of the legs
OMIM:300554	CLCN5	1184	HP:0000121	Nephrocalcinosis
OMIM:300554	CLCN5	1184	HP:0003025	Metaphyseal irregularity
OMIM:300554	CLCN5	1184	HP:0003812	Phenotypic variability
OMIM:300554	CLCN5	1184	HP:0002148	Hypophosphatemia
OMIM:300554	CLCN5	1184	HP:0002757	Recurrent fractures
OMIM:300554	CLCN5	1184	HP:0004322	Short stature
OMIM:300554	CLCN5	1184	HP:0002653	Bone pain
OMIM:300554	CLCN5	1184	HP:0002150	Hypercalciuria
OMIM:300554	CLCN5	1184	HP:0000787	Nephrolithiasis
OMIM:300554	CLCN5	1184	HP:0002663	Delayed epiphyseal ossification
OMIM:601202	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:601202	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:601202	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:601202	CRYBB3	1417	HP:0000006	Autosomal dominant inheritance
OMIM:601202	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:601202	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:605258	AICDA	57379	HP:0002205	Recurrent respiratory infections
OMIM:605258	AICDA	57379	HP:0002718	Recurrent bacterial infections
OMIM:605258	AICDA	57379	HP:0000007	Autosomal recessive inheritance
OMIM:605258	AICDA	57379	HP:0004315	IgG deficiency
OMIM:605258	AICDA	57379	HP:0002716	Lymphadenopathy
OMIM:605258	AICDA	57379	HP:0002721	Immunodeficiency
OMIM:156500	COL10A1	1300	HP:0000347	Micrognathia
OMIM:156500	COL10A1	1300	HP:0000365	Hearing impairment
OMIM:156500	COL10A1	1300	HP:0003072	Hypercalcemia
OMIM:156500	COL10A1	1300	HP:0002007	Frontal bossing
OMIM:156500	COL10A1	1300	HP:0000006	Autosomal dominant inheritance
OMIM:156500	COL10A1	1300	HP:0004348	Abnormality of bone mineral density
OMIM:156500	COL10A1	1300	HP:0003301	Irregular vertebral endplates
OMIM:156500	COL10A1	1300	HP:0002812	Coxa vara
OMIM:156500	COL10A1	1300	HP:0002980	Femoral bowing
OMIM:156500	COL10A1	1300	HP:0001156	Brachydactyly syndrome
OMIM:156500	COL10A1	1300	HP:0009826	Limb undergrowth
OMIM:156500	COL10A1	1300	HP:0000926	Platyspondyly
OMIM:156500	COL10A1	1300	HP:0001363	Craniosynostosis
OMIM:156500	COL10A1	1300	HP:0002515	Waddling gait
OMIM:156500	COL10A1	1300	HP:0002970	Genu varum
OMIM:156500	COL10A1	1300	HP:0005819	Short middle phalanx of finger
OMIM:156500	COL10A1	1300	HP:0009882	Short distal phalanx of finger
OMIM:613080	SRY	6736	HP:0012245	Sex reversal
OMIM:613080	SRY	6736	HP:0000006	Autosomal dominant inheritance
OMIM:613080	DMRT1	1761	HP:0012245	Sex reversal
OMIM:613080	DMRT1	1761	HP:0000006	Autosomal dominant inheritance
OMIM:613080	NR5A1	2516	HP:0012245	Sex reversal
OMIM:613080	NR5A1	2516	HP:0000006	Autosomal dominant inheritance
OMIM:613080	SOX9	6662	HP:0012245	Sex reversal
OMIM:613080	SOX9	6662	HP:0000006	Autosomal dominant inheritance
OMIM:613080	MAP3K1	4214	HP:0012245	Sex reversal
OMIM:613080	MAP3K1	4214	HP:0000006	Autosomal dominant inheritance
OMIM:613080	CBX2	84733	HP:0012245	Sex reversal
OMIM:613080	CBX2	84733	HP:0000006	Autosomal dominant inheritance
OMIM:613080	DHH	50846	HP:0012245	Sex reversal
OMIM:613080	DHH	50846	HP:0000006	Autosomal dominant inheritance
OMIM:613080	NR0B1	190	HP:0012245	Sex reversal
OMIM:613080	NR0B1	190	HP:0000006	Autosomal dominant inheritance
OMIM:613205	LMNA	4000	HP:0001382	Joint hypermobility
OMIM:613205	LMNA	4000	HP:0001270	Motor delay
OMIM:613205	LMNA	4000	HP:0001252	Muscular hypotonia
OMIM:613205	LMNA	4000	HP:0002093	Respiratory insufficiency
OMIM:613205	LMNA	4000	HP:0001557	Prenatal movement abnormality
OMIM:613205	LMNA	4000	HP:0003307	Hyperlordosis
OMIM:613205	LMNA	4000	HP:0002376	Developmental regression
OMIM:613205	LMNA	4000	HP:0003198	Myopathy
OMIM:613205	LMNA	4000	HP:0006829	Severe muscular hypotonia
OMIM:613205	LMNA	4000	HP:0011675	Arrhythmia
OMIM:613205	LMNA	4000	HP:0003676	Progressive
OMIM:613205	LMNA	4000	HP:0004325	Decreased body weight
OMIM:613205	LMNA	4000	HP:0001883	Talipes
OMIM:613205	LMNA	4000	HP:0001558	Decreased fetal movement
OMIM:613205	LMNA	4000	HP:0001376	Limitation of joint mobility
OMIM:613205	LMNA	4000	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:613205	LMNA	4000	HP:0003828	Variable expressivity
OMIM:613205	LMNA	4000	HP:0001371	Flexion contracture
OMIM:613205	LMNA	4000	HP:0100543	Cognitive impairment
OMIM:613205	LMNA	4000	HP:0000464	Abnormality of the neck
OMIM:613205	LMNA	4000	HP:0000467	Neck muscle weakness
OMIM:613205	LMNA	4000	HP:0003741	Congenital muscular dystrophy
OMIM:613205	LMNA	4000	HP:0003306	Spinal rigidity
OMIM:613205	LMNA	4000	HP:0000774	Narrow chest
OMIM:613205	LMNA	4000	HP:0003202	Skeletal muscle atrophy
OMIM:613205	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:613205	LMNA	4000	HP:0003457	EMG abnormality
OMIM:613205	LMNA	4000	HP:0003028	Abnormality of the ankles
OMIM:613205	LMNA	4000	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613205	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:613205	LMNA	4000	HP:0001324	Muscle weakness
OMIM:613205	LMNA	4000	HP:0001288	Gait disturbance
OMIM:613205	LMNA	4000	HP:0001508	Failure to thrive
OMIM:615234	STEAP3	55240	HP:0000027	Azoospermia
OMIM:615234	STEAP3	55240	HP:0001510	Growth delay
OMIM:615234	STEAP3	55240	HP:0000957	Cafe-au-lait spot
OMIM:615234	STEAP3	55240	HP:0002240	Hepatomegaly
OMIM:615234	STEAP3	55240	HP:0001744	Splenomegaly
OMIM:615234	STEAP3	55240	HP:0001903	Anemia
OMIM:615234	STEAP3	55240	HP:0000006	Autosomal dominant inheritance
OMIM:615234	STEAP3	55240	HP:0000135	Hypogonadism
OMIM:232700	PYGL	5836	HP:0004322	Short stature
OMIM:232700	PYGL	5836	HP:0001943	Hypoglycemia
OMIM:232700	PYGL	5836	HP:0002240	Hepatomegaly
OMIM:232700	PYGL	5836	HP:0008897	Postnatal growth retardation
OMIM:232700	PYGL	5836	HP:0000007	Autosomal recessive inheritance
OMIM:611584	SOX10	6663	HP:0006808	Cerebral hypomyelination
OMIM:611584	SOX10	6663	HP:0000635	Blue irides
OMIM:611584	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:611584	SOX10	6663	HP:0002227	White eyelashes
OMIM:611584	SOX10	6663	HP:0001263	Global developmental delay
OMIM:611584	SOX10	6663	HP:0002211	White forelock
OMIM:611584	SOX10	6663	HP:0000767	Pectus excavatum
OMIM:611584	SOX10	6663	HP:0001249	Intellectual disability
OMIM:611584	SOX10	6663	HP:0001276	Hypertonia
OMIM:611584	SOX10	6663	HP:0000458	Anosmia
OMIM:611584	SOX10	6663	HP:0008936	Muscular hypotonia of the trunk
OMIM:611584	SOX10	6663	HP:0001053	Hypopigmented skin patches
OMIM:611584	SOX10	6663	HP:0000639	Nystagmus
OMIM:611584	SOX10	6663	HP:0001425	Heterogeneous
OMIM:611584	SOX10	6663	HP:0002216	Premature graying of hair
OMIM:611584	SOX10	6663	HP:0001100	Heterochromia iridis
OMIM:611584	SOX10	6663	HP:0002226	White eyebrow
OMIM:611584	SOX10	6663	HP:0003812	Phenotypic variability
OMIM:611584	SOX10	6663	HP:0007894	Hypopigmentation of the fundus
OMIM:611584	SOX10	6663	HP:0001107	Ocular albinism
OMIM:611584	SOX10	6663	HP:0000407	Sensorineural hearing impairment
OMIM:611584	SOX10	6663	HP:0000957	Cafe-au-lait spot
OMIM:611584	MITF	4286	HP:0006808	Cerebral hypomyelination
OMIM:611584	MITF	4286	HP:0000635	Blue irides
OMIM:611584	MITF	4286	HP:0000006	Autosomal dominant inheritance
OMIM:611584	MITF	4286	HP:0002227	White eyelashes
OMIM:611584	MITF	4286	HP:0001263	Global developmental delay
OMIM:611584	MITF	4286	HP:0002211	White forelock
OMIM:611584	MITF	4286	HP:0000767	Pectus excavatum
OMIM:611584	MITF	4286	HP:0001249	Intellectual disability
OMIM:611584	MITF	4286	HP:0001276	Hypertonia
OMIM:611584	MITF	4286	HP:0000458	Anosmia
OMIM:611584	MITF	4286	HP:0008936	Muscular hypotonia of the trunk
OMIM:611584	MITF	4286	HP:0001053	Hypopigmented skin patches
OMIM:611584	MITF	4286	HP:0000639	Nystagmus
OMIM:611584	MITF	4286	HP:0001425	Heterogeneous
OMIM:611584	MITF	4286	HP:0002216	Premature graying of hair
OMIM:611584	MITF	4286	HP:0001100	Heterochromia iridis
OMIM:611584	MITF	4286	HP:0002226	White eyebrow
OMIM:611584	MITF	4286	HP:0003812	Phenotypic variability
OMIM:611584	MITF	4286	HP:0007894	Hypopigmentation of the fundus
OMIM:611584	MITF	4286	HP:0001107	Ocular albinism
OMIM:611584	MITF	4286	HP:0000407	Sensorineural hearing impairment
OMIM:611584	MITF	4286	HP:0000957	Cafe-au-lait spot
OMIM:611584	SNAI2	6591	HP:0006808	Cerebral hypomyelination
OMIM:611584	SNAI2	6591	HP:0000635	Blue irides
OMIM:611584	SNAI2	6591	HP:0000006	Autosomal dominant inheritance
OMIM:611584	SNAI2	6591	HP:0002227	White eyelashes
OMIM:611584	SNAI2	6591	HP:0001263	Global developmental delay
OMIM:611584	SNAI2	6591	HP:0002211	White forelock
OMIM:611584	SNAI2	6591	HP:0000767	Pectus excavatum
OMIM:611584	SNAI2	6591	HP:0001249	Intellectual disability
OMIM:611584	SNAI2	6591	HP:0001276	Hypertonia
OMIM:611584	SNAI2	6591	HP:0000458	Anosmia
OMIM:611584	SNAI2	6591	HP:0008936	Muscular hypotonia of the trunk
OMIM:611584	SNAI2	6591	HP:0001053	Hypopigmented skin patches
OMIM:611584	SNAI2	6591	HP:0000639	Nystagmus
OMIM:611584	SNAI2	6591	HP:0001425	Heterogeneous
OMIM:611584	SNAI2	6591	HP:0002216	Premature graying of hair
OMIM:611584	SNAI2	6591	HP:0001100	Heterochromia iridis
OMIM:611584	SNAI2	6591	HP:0002226	White eyebrow
OMIM:611584	SNAI2	6591	HP:0003812	Phenotypic variability
OMIM:611584	SNAI2	6591	HP:0007894	Hypopigmentation of the fundus
OMIM:611584	SNAI2	6591	HP:0001107	Ocular albinism
OMIM:611584	SNAI2	6591	HP:0000407	Sensorineural hearing impairment
OMIM:611584	SNAI2	6591	HP:0000957	Cafe-au-lait spot
OMIM:613875	CALR3	125972	HP:0001670	Asymmetric septal hypertrophy
OMIM:613875	CALR3	125972	HP:0000006	Autosomal dominant inheritance
OMIM:275120	TRH	7200	HP:0000007	Autosomal recessive inheritance
OMIM:275120	TRH	7200	HP:0001609	Hoarse voice
OMIM:275120	TRH	7200	HP:0002019	Constipation
OMIM:275120	TRH	7200	HP:0000958	Dry skin
OMIM:275120	TRH	7200	HP:0001249	Intellectual disability
OMIM:275120	TRH	7200	HP:0002750	Delayed skeletal maturation
OMIM:275120	TRH	7200	HP:0004322	Short stature
OMIM:275120	TRH	7200	HP:0001324	Muscle weakness
ORPHANET:35612	MFRP	83552	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:35612	MFRP	83552	HP:0000540	Hypermetropia
ORPHANET:35612	MFRP	83552	HP:0001139	Choroideremia
ORPHANET:35612	MFRP	83552	HP:0000486	Strabismus
ORPHANET:35612	MFRP	83552	HP:0000501	Glaucoma
ORPHANET:35612	MFRP	83552	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:35612	TMEM98	26022	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:35612	TMEM98	26022	HP:0000540	Hypermetropia
ORPHANET:35612	TMEM98	26022	HP:0001139	Choroideremia
ORPHANET:35612	TMEM98	26022	HP:0000486	Strabismus
ORPHANET:35612	TMEM98	26022	HP:0000501	Glaucoma
ORPHANET:35612	TMEM98	26022	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:601462	MUSK	4593	HP:0000508	Ptosis
OMIM:601462	MUSK	4593	HP:0001260	Dysarthria
OMIM:601462	MUSK	4593	HP:0000006	Autosomal dominant inheritance
OMIM:601462	MUSK	4593	HP:0003674	Onset
OMIM:601462	MUSK	4593	HP:0003324	Generalized muscle weakness
OMIM:601462	MUSK	4593	HP:0000218	High palate
OMIM:601462	MUSK	4593	HP:0000007	Autosomal recessive inheritance
OMIM:601462	MUSK	4593	HP:0000602	Ophthalmoplegia
OMIM:601462	MUSK	4593	HP:0002015	Dysphagia
OMIM:601462	MUSK	4593	HP:0011968	Feeding difficulties
OMIM:601462	CHRNB1	1140	HP:0000508	Ptosis
OMIM:601462	CHRNB1	1140	HP:0001260	Dysarthria
OMIM:601462	CHRNB1	1140	HP:0000006	Autosomal dominant inheritance
OMIM:601462	CHRNB1	1140	HP:0003674	Onset
OMIM:601462	CHRNB1	1140	HP:0003324	Generalized muscle weakness
OMIM:601462	CHRNB1	1140	HP:0000218	High palate
OMIM:601462	CHRNB1	1140	HP:0000007	Autosomal recessive inheritance
OMIM:601462	CHRNB1	1140	HP:0000602	Ophthalmoplegia
OMIM:601462	CHRNB1	1140	HP:0002015	Dysphagia
OMIM:601462	CHRNB1	1140	HP:0011968	Feeding difficulties
OMIM:601462	DOK7	285489	HP:0000508	Ptosis
OMIM:601462	DOK7	285489	HP:0001260	Dysarthria
OMIM:601462	DOK7	285489	HP:0000006	Autosomal dominant inheritance
OMIM:601462	DOK7	285489	HP:0003674	Onset
OMIM:601462	DOK7	285489	HP:0003324	Generalized muscle weakness
OMIM:601462	DOK7	285489	HP:0000218	High palate
OMIM:601462	DOK7	285489	HP:0000007	Autosomal recessive inheritance
OMIM:601462	DOK7	285489	HP:0000602	Ophthalmoplegia
OMIM:601462	DOK7	285489	HP:0002015	Dysphagia
OMIM:601462	DOK7	285489	HP:0011968	Feeding difficulties
OMIM:601462	LRP4	4038	HP:0000508	Ptosis
OMIM:601462	LRP4	4038	HP:0001260	Dysarthria
OMIM:601462	LRP4	4038	HP:0000006	Autosomal dominant inheritance
OMIM:601462	LRP4	4038	HP:0003674	Onset
OMIM:601462	LRP4	4038	HP:0003324	Generalized muscle weakness
OMIM:601462	LRP4	4038	HP:0000218	High palate
OMIM:601462	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:601462	LRP4	4038	HP:0000602	Ophthalmoplegia
OMIM:601462	LRP4	4038	HP:0002015	Dysphagia
OMIM:601462	LRP4	4038	HP:0011968	Feeding difficulties
OMIM:601462	CHRND	1144	HP:0000508	Ptosis
OMIM:601462	CHRND	1144	HP:0001260	Dysarthria
OMIM:601462	CHRND	1144	HP:0000006	Autosomal dominant inheritance
OMIM:601462	CHRND	1144	HP:0003674	Onset
OMIM:601462	CHRND	1144	HP:0003324	Generalized muscle weakness
OMIM:601462	CHRND	1144	HP:0000218	High palate
OMIM:601462	CHRND	1144	HP:0000007	Autosomal recessive inheritance
OMIM:601462	CHRND	1144	HP:0000602	Ophthalmoplegia
OMIM:601462	CHRND	1144	HP:0002015	Dysphagia
OMIM:601462	CHRND	1144	HP:0011968	Feeding difficulties
OMIM:601462	RAPSN	5913	HP:0000508	Ptosis
OMIM:601462	RAPSN	5913	HP:0001260	Dysarthria
OMIM:601462	RAPSN	5913	HP:0000006	Autosomal dominant inheritance
OMIM:601462	RAPSN	5913	HP:0003674	Onset
OMIM:601462	RAPSN	5913	HP:0003324	Generalized muscle weakness
OMIM:601462	RAPSN	5913	HP:0000218	High palate
OMIM:601462	RAPSN	5913	HP:0000007	Autosomal recessive inheritance
OMIM:601462	RAPSN	5913	HP:0000602	Ophthalmoplegia
OMIM:601462	RAPSN	5913	HP:0002015	Dysphagia
OMIM:601462	RAPSN	5913	HP:0011968	Feeding difficulties
OMIM:601462	SCN4A	6329	HP:0000508	Ptosis
OMIM:601462	SCN4A	6329	HP:0001260	Dysarthria
OMIM:601462	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:601462	SCN4A	6329	HP:0003674	Onset
OMIM:601462	SCN4A	6329	HP:0003324	Generalized muscle weakness
OMIM:601462	SCN4A	6329	HP:0000218	High palate
OMIM:601462	SCN4A	6329	HP:0000007	Autosomal recessive inheritance
OMIM:601462	SCN4A	6329	HP:0000602	Ophthalmoplegia
OMIM:601462	SCN4A	6329	HP:0002015	Dysphagia
OMIM:601462	SCN4A	6329	HP:0011968	Feeding difficulties
OMIM:601462	CHRNE	1145	HP:0000508	Ptosis
OMIM:601462	CHRNE	1145	HP:0001260	Dysarthria
OMIM:601462	CHRNE	1145	HP:0000006	Autosomal dominant inheritance
OMIM:601462	CHRNE	1145	HP:0003674	Onset
OMIM:601462	CHRNE	1145	HP:0003324	Generalized muscle weakness
OMIM:601462	CHRNE	1145	HP:0000218	High palate
OMIM:601462	CHRNE	1145	HP:0000007	Autosomal recessive inheritance
OMIM:601462	CHRNE	1145	HP:0000602	Ophthalmoplegia
OMIM:601462	CHRNE	1145	HP:0002015	Dysphagia
OMIM:601462	CHRNE	1145	HP:0011968	Feeding difficulties
OMIM:601462	AGRN	375790	HP:0000508	Ptosis
OMIM:601462	AGRN	375790	HP:0001260	Dysarthria
OMIM:601462	AGRN	375790	HP:0000006	Autosomal dominant inheritance
OMIM:601462	AGRN	375790	HP:0003674	Onset
OMIM:601462	AGRN	375790	HP:0003324	Generalized muscle weakness
OMIM:601462	AGRN	375790	HP:0000218	High palate
OMIM:601462	AGRN	375790	HP:0000007	Autosomal recessive inheritance
OMIM:601462	AGRN	375790	HP:0000602	Ophthalmoplegia
OMIM:601462	AGRN	375790	HP:0002015	Dysphagia
OMIM:601462	AGRN	375790	HP:0011968	Feeding difficulties
OMIM:601462	CHRNA1	1134	HP:0000508	Ptosis
OMIM:601462	CHRNA1	1134	HP:0001260	Dysarthria
OMIM:601462	CHRNA1	1134	HP:0000006	Autosomal dominant inheritance
OMIM:601462	CHRNA1	1134	HP:0003674	Onset
OMIM:601462	CHRNA1	1134	HP:0003324	Generalized muscle weakness
OMIM:601462	CHRNA1	1134	HP:0000218	High palate
OMIM:601462	CHRNA1	1134	HP:0000007	Autosomal recessive inheritance
OMIM:601462	CHRNA1	1134	HP:0000602	Ophthalmoplegia
OMIM:601462	CHRNA1	1134	HP:0002015	Dysphagia
OMIM:601462	CHRNA1	1134	HP:0011968	Feeding difficulties
OMIM:614114	BUB3	9184	HP:0000252	Microcephaly
OMIM:614114	BUB3	9184	HP:0000007	Autosomal recessive inheritance
OMIM:614114	BUB3	9184	HP:0003196	Short nose
OMIM:614114	BUB3	9184	HP:0001659	Aortic regurgitation
OMIM:614114	BUB3	9184	HP:0010535	Sleep apnea
OMIM:614114	BUB3	9184	HP:0000286	Epicanthus
OMIM:614114	BUB3	9184	HP:0000821	Hypothyroidism
OMIM:614114	BUB3	9184	HP:0001256	Intellectual disability, mild
OMIM:614114	BUB3	9184	HP:0001518	Small for gestational age
OMIM:614114	BUB3	9184	HP:0001631	Atria septal defect
OMIM:614114	BUB3	9184	HP:0002247	Duodenal atresia
OMIM:614114	BUB3	9184	HP:0003812	Phenotypic variability
OMIM:614114	BUB3	9184	HP:0000347	Micrognathia
OMIM:614114	BUB3	9184	HP:0005280	Depressed nasal bridge
OMIM:614114	BUB3	9184	HP:0000957	Cafe-au-lait spot
OMIM:614114	BUB3	9184	HP:0001680	Coarctation of aorta
OMIM:614114	BUB3	9184	HP:0001629	Ventricular septal defect
OMIM:614114	BUB3	9184	HP:0000325	Triangular face
OMIM:614114	BUB3	9184	HP:0000365	Hearing impairment
OMIM:614114	BUB3	9184	HP:0200040	Epidermoid cyst
OMIM:614114	BUB3	9184	HP:0000276	Long face
OMIM:614114	BUB3	9184	HP:0004322	Short stature
OMIM:614114	BUB3	9184	HP:0012745	Short palpebral fissure
OMIM:614114	BUB3	9184	HP:0002007	Frontal bossing
OMIM:614114	BUB3	9184	HP:0000494	Downslanted palpebral fissures
OMIM:614114	BUB3	9184	HP:0000369	Low-set ears
OMIM:614114	BUB3	9184	HP:0000268	Dolichocephaly
OMIM:614114	BUB3	9184	HP:0002101	Abnormal lung lobation
OMIM:614114	BUB3	9184	HP:0001682	Subaortic stenosis
OMIM:614114	BUB3	9184	HP:0000824	Growth hormone deficiency
OMIM:614114	BUB3	9184	HP:0001252	Muscular hypotonia
OMIM:614114	BUB3	9184	HP:0000490	Deeply set eye
OMIM:614114	BUB3	9184	HP:0002750	Delayed skeletal maturation
OMIM:614114	BUB3	9184	HP:0000581	Blepharophimosis
OMIM:614114	BUB3	9184	HP:0001511	Intrauterine growth retardation
OMIM:614114	CEP57	9702	HP:0000252	Microcephaly
OMIM:614114	CEP57	9702	HP:0000007	Autosomal recessive inheritance
OMIM:614114	CEP57	9702	HP:0003196	Short nose
OMIM:614114	CEP57	9702	HP:0001659	Aortic regurgitation
OMIM:614114	CEP57	9702	HP:0010535	Sleep apnea
OMIM:614114	CEP57	9702	HP:0000286	Epicanthus
OMIM:614114	CEP57	9702	HP:0000821	Hypothyroidism
OMIM:614114	CEP57	9702	HP:0001256	Intellectual disability, mild
OMIM:614114	CEP57	9702	HP:0001518	Small for gestational age
OMIM:614114	CEP57	9702	HP:0001631	Atria septal defect
OMIM:614114	CEP57	9702	HP:0002247	Duodenal atresia
OMIM:614114	CEP57	9702	HP:0003812	Phenotypic variability
OMIM:614114	CEP57	9702	HP:0000347	Micrognathia
OMIM:614114	CEP57	9702	HP:0005280	Depressed nasal bridge
OMIM:614114	CEP57	9702	HP:0000957	Cafe-au-lait spot
OMIM:614114	CEP57	9702	HP:0001680	Coarctation of aorta
OMIM:614114	CEP57	9702	HP:0001629	Ventricular septal defect
OMIM:614114	CEP57	9702	HP:0000325	Triangular face
OMIM:614114	CEP57	9702	HP:0000365	Hearing impairment
OMIM:614114	CEP57	9702	HP:0200040	Epidermoid cyst
OMIM:614114	CEP57	9702	HP:0000276	Long face
OMIM:614114	CEP57	9702	HP:0004322	Short stature
OMIM:614114	CEP57	9702	HP:0012745	Short palpebral fissure
OMIM:614114	CEP57	9702	HP:0002007	Frontal bossing
OMIM:614114	CEP57	9702	HP:0000494	Downslanted palpebral fissures
OMIM:614114	CEP57	9702	HP:0000369	Low-set ears
OMIM:614114	CEP57	9702	HP:0000268	Dolichocephaly
OMIM:614114	CEP57	9702	HP:0002101	Abnormal lung lobation
OMIM:614114	CEP57	9702	HP:0001682	Subaortic stenosis
OMIM:614114	CEP57	9702	HP:0000824	Growth hormone deficiency
OMIM:614114	CEP57	9702	HP:0001252	Muscular hypotonia
OMIM:614114	CEP57	9702	HP:0000490	Deeply set eye
OMIM:614114	CEP57	9702	HP:0002750	Delayed skeletal maturation
OMIM:614114	CEP57	9702	HP:0000581	Blepharophimosis
OMIM:614114	CEP57	9702	HP:0001511	Intrauterine growth retardation
OMIM:614114	BUB1	699	HP:0000252	Microcephaly
OMIM:614114	BUB1	699	HP:0000007	Autosomal recessive inheritance
OMIM:614114	BUB1	699	HP:0003196	Short nose
OMIM:614114	BUB1	699	HP:0001659	Aortic regurgitation
OMIM:614114	BUB1	699	HP:0010535	Sleep apnea
OMIM:614114	BUB1	699	HP:0000286	Epicanthus
OMIM:614114	BUB1	699	HP:0000821	Hypothyroidism
OMIM:614114	BUB1	699	HP:0001256	Intellectual disability, mild
OMIM:614114	BUB1	699	HP:0001518	Small for gestational age
OMIM:614114	BUB1	699	HP:0001631	Atria septal defect
OMIM:614114	BUB1	699	HP:0002247	Duodenal atresia
OMIM:614114	BUB1	699	HP:0003812	Phenotypic variability
OMIM:614114	BUB1	699	HP:0000347	Micrognathia
OMIM:614114	BUB1	699	HP:0005280	Depressed nasal bridge
OMIM:614114	BUB1	699	HP:0000957	Cafe-au-lait spot
OMIM:614114	BUB1	699	HP:0001680	Coarctation of aorta
OMIM:614114	BUB1	699	HP:0001629	Ventricular septal defect
OMIM:614114	BUB1	699	HP:0000325	Triangular face
OMIM:614114	BUB1	699	HP:0000365	Hearing impairment
OMIM:614114	BUB1	699	HP:0200040	Epidermoid cyst
OMIM:614114	BUB1	699	HP:0000276	Long face
OMIM:614114	BUB1	699	HP:0004322	Short stature
OMIM:614114	BUB1	699	HP:0012745	Short palpebral fissure
OMIM:614114	BUB1	699	HP:0002007	Frontal bossing
OMIM:614114	BUB1	699	HP:0000494	Downslanted palpebral fissures
OMIM:614114	BUB1	699	HP:0000369	Low-set ears
OMIM:614114	BUB1	699	HP:0000268	Dolichocephaly
OMIM:614114	BUB1	699	HP:0002101	Abnormal lung lobation
OMIM:614114	BUB1	699	HP:0001682	Subaortic stenosis
OMIM:614114	BUB1	699	HP:0000824	Growth hormone deficiency
OMIM:614114	BUB1	699	HP:0001252	Muscular hypotonia
OMIM:614114	BUB1	699	HP:0000490	Deeply set eye
OMIM:614114	BUB1	699	HP:0002750	Delayed skeletal maturation
OMIM:614114	BUB1	699	HP:0000581	Blepharophimosis
OMIM:614114	BUB1	699	HP:0001511	Intrauterine growth retardation
OMIM:614114	BUB1B	701	HP:0000252	Microcephaly
OMIM:614114	BUB1B	701	HP:0000007	Autosomal recessive inheritance
OMIM:614114	BUB1B	701	HP:0003196	Short nose
OMIM:614114	BUB1B	701	HP:0001659	Aortic regurgitation
OMIM:614114	BUB1B	701	HP:0010535	Sleep apnea
OMIM:614114	BUB1B	701	HP:0000286	Epicanthus
OMIM:614114	BUB1B	701	HP:0000821	Hypothyroidism
OMIM:614114	BUB1B	701	HP:0001256	Intellectual disability, mild
OMIM:614114	BUB1B	701	HP:0001518	Small for gestational age
OMIM:614114	BUB1B	701	HP:0001631	Atria septal defect
OMIM:614114	BUB1B	701	HP:0002247	Duodenal atresia
OMIM:614114	BUB1B	701	HP:0003812	Phenotypic variability
OMIM:614114	BUB1B	701	HP:0000347	Micrognathia
OMIM:614114	BUB1B	701	HP:0005280	Depressed nasal bridge
OMIM:614114	BUB1B	701	HP:0000957	Cafe-au-lait spot
OMIM:614114	BUB1B	701	HP:0001680	Coarctation of aorta
OMIM:614114	BUB1B	701	HP:0001629	Ventricular septal defect
OMIM:614114	BUB1B	701	HP:0000325	Triangular face
OMIM:614114	BUB1B	701	HP:0000365	Hearing impairment
OMIM:614114	BUB1B	701	HP:0200040	Epidermoid cyst
OMIM:614114	BUB1B	701	HP:0000276	Long face
OMIM:614114	BUB1B	701	HP:0004322	Short stature
OMIM:614114	BUB1B	701	HP:0012745	Short palpebral fissure
OMIM:614114	BUB1B	701	HP:0002007	Frontal bossing
OMIM:614114	BUB1B	701	HP:0000494	Downslanted palpebral fissures
OMIM:614114	BUB1B	701	HP:0000369	Low-set ears
OMIM:614114	BUB1B	701	HP:0000268	Dolichocephaly
OMIM:614114	BUB1B	701	HP:0002101	Abnormal lung lobation
OMIM:614114	BUB1B	701	HP:0001682	Subaortic stenosis
OMIM:614114	BUB1B	701	HP:0000824	Growth hormone deficiency
OMIM:614114	BUB1B	701	HP:0001252	Muscular hypotonia
OMIM:614114	BUB1B	701	HP:0000490	Deeply set eye
OMIM:614114	BUB1B	701	HP:0002750	Delayed skeletal maturation
OMIM:614114	BUB1B	701	HP:0000581	Blepharophimosis
OMIM:614114	BUB1B	701	HP:0001511	Intrauterine growth retardation
OMIM:610682	PPIB	5479	HP:0000270	Delayed cranial suture closure
OMIM:610682	PPIB	5479	HP:0000767	Pectus excavatum
OMIM:610682	PPIB	5479	HP:0000938	Osteopenia
OMIM:610682	PPIB	5479	HP:0000520	Proptosis
OMIM:610682	PPIB	5479	HP:0002757	Recurrent fractures
OMIM:610682	PPIB	5479	HP:0002812	Coxa vara
OMIM:610682	PPIB	5479	HP:0002979	Bowing of the legs
OMIM:610682	PPIB	5479	HP:0000774	Narrow chest
OMIM:610682	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:610682	PPIB	5479	HP:0002983	Micromelia
OMIM:610682	PPIB	5479	HP:0008905	Rhizomelia
OMIM:610682	PPIB	5479	HP:0000126	Hydronephrosis
OMIM:610682	PPIB	5479	HP:0000311	Round face
OMIM:610682	PPIB	5479	HP:0010537	Wide cranial sutures
OMIM:610682	PPIB	5479	HP:0002645	Wormian bones
OMIM:610682	PPIB	5479	HP:0000343	Long philtrum
OMIM:610682	PPIB	5479	HP:0002650	Scoliosis
OMIM:610682	PPIB	5479	HP:0000592	Blue sclerae
OMIM:610682	PPIB	5479	HP:0001522	Death in infancy
OMIM:610682	SERPINH1	871	HP:0000270	Delayed cranial suture closure
OMIM:610682	SERPINH1	871	HP:0000767	Pectus excavatum
OMIM:610682	SERPINH1	871	HP:0000938	Osteopenia
OMIM:610682	SERPINH1	871	HP:0000520	Proptosis
OMIM:610682	SERPINH1	871	HP:0002757	Recurrent fractures
OMIM:610682	SERPINH1	871	HP:0002812	Coxa vara
OMIM:610682	SERPINH1	871	HP:0002979	Bowing of the legs
OMIM:610682	SERPINH1	871	HP:0000774	Narrow chest
OMIM:610682	SERPINH1	871	HP:0000007	Autosomal recessive inheritance
OMIM:610682	SERPINH1	871	HP:0002983	Micromelia
OMIM:610682	SERPINH1	871	HP:0008905	Rhizomelia
OMIM:610682	SERPINH1	871	HP:0000126	Hydronephrosis
OMIM:610682	SERPINH1	871	HP:0000311	Round face
OMIM:610682	SERPINH1	871	HP:0010537	Wide cranial sutures
OMIM:610682	SERPINH1	871	HP:0002645	Wormian bones
OMIM:610682	SERPINH1	871	HP:0000343	Long philtrum
OMIM:610682	SERPINH1	871	HP:0002650	Scoliosis
OMIM:610682	SERPINH1	871	HP:0000592	Blue sclerae
OMIM:610682	SERPINH1	871	HP:0001522	Death in infancy
OMIM:610682	FKBP10	60681	HP:0000270	Delayed cranial suture closure
OMIM:610682	FKBP10	60681	HP:0000767	Pectus excavatum
OMIM:610682	FKBP10	60681	HP:0000938	Osteopenia
OMIM:610682	FKBP10	60681	HP:0000520	Proptosis
OMIM:610682	FKBP10	60681	HP:0002757	Recurrent fractures
OMIM:610682	FKBP10	60681	HP:0002812	Coxa vara
OMIM:610682	FKBP10	60681	HP:0002979	Bowing of the legs
OMIM:610682	FKBP10	60681	HP:0000774	Narrow chest
OMIM:610682	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:610682	FKBP10	60681	HP:0002983	Micromelia
OMIM:610682	FKBP10	60681	HP:0008905	Rhizomelia
OMIM:610682	FKBP10	60681	HP:0000126	Hydronephrosis
OMIM:610682	FKBP10	60681	HP:0000311	Round face
OMIM:610682	FKBP10	60681	HP:0010537	Wide cranial sutures
OMIM:610682	FKBP10	60681	HP:0002645	Wormian bones
OMIM:610682	FKBP10	60681	HP:0000343	Long philtrum
OMIM:610682	FKBP10	60681	HP:0002650	Scoliosis
OMIM:610682	FKBP10	60681	HP:0000592	Blue sclerae
OMIM:610682	FKBP10	60681	HP:0001522	Death in infancy
OMIM:610682	BMP1	649	HP:0000270	Delayed cranial suture closure
OMIM:610682	BMP1	649	HP:0000767	Pectus excavatum
OMIM:610682	BMP1	649	HP:0000938	Osteopenia
OMIM:610682	BMP1	649	HP:0000520	Proptosis
OMIM:610682	BMP1	649	HP:0002757	Recurrent fractures
OMIM:610682	BMP1	649	HP:0002812	Coxa vara
OMIM:610682	BMP1	649	HP:0002979	Bowing of the legs
OMIM:610682	BMP1	649	HP:0000774	Narrow chest
OMIM:610682	BMP1	649	HP:0000007	Autosomal recessive inheritance
OMIM:610682	BMP1	649	HP:0002983	Micromelia
OMIM:610682	BMP1	649	HP:0008905	Rhizomelia
OMIM:610682	BMP1	649	HP:0000126	Hydronephrosis
OMIM:610682	BMP1	649	HP:0000311	Round face
OMIM:610682	BMP1	649	HP:0010537	Wide cranial sutures
OMIM:610682	BMP1	649	HP:0002645	Wormian bones
OMIM:610682	BMP1	649	HP:0000343	Long philtrum
OMIM:610682	BMP1	649	HP:0002650	Scoliosis
OMIM:610682	BMP1	649	HP:0000592	Blue sclerae
OMIM:610682	BMP1	649	HP:0001522	Death in infancy
OMIM:610682	P3H1	64175	HP:0000270	Delayed cranial suture closure
OMIM:610682	P3H1	64175	HP:0000767	Pectus excavatum
OMIM:610682	P3H1	64175	HP:0000938	Osteopenia
OMIM:610682	P3H1	64175	HP:0000520	Proptosis
OMIM:610682	P3H1	64175	HP:0002757	Recurrent fractures
OMIM:610682	P3H1	64175	HP:0002812	Coxa vara
OMIM:610682	P3H1	64175	HP:0002979	Bowing of the legs
OMIM:610682	P3H1	64175	HP:0000774	Narrow chest
OMIM:610682	P3H1	64175	HP:0000007	Autosomal recessive inheritance
OMIM:610682	P3H1	64175	HP:0002983	Micromelia
OMIM:610682	P3H1	64175	HP:0008905	Rhizomelia
OMIM:610682	P3H1	64175	HP:0000126	Hydronephrosis
OMIM:610682	P3H1	64175	HP:0000311	Round face
OMIM:610682	P3H1	64175	HP:0010537	Wide cranial sutures
OMIM:610682	P3H1	64175	HP:0002645	Wormian bones
OMIM:610682	P3H1	64175	HP:0000343	Long philtrum
OMIM:610682	P3H1	64175	HP:0002650	Scoliosis
OMIM:610682	P3H1	64175	HP:0000592	Blue sclerae
OMIM:610682	P3H1	64175	HP:0001522	Death in infancy
OMIM:610682	TMEM38B	55151	HP:0000270	Delayed cranial suture closure
OMIM:610682	TMEM38B	55151	HP:0000767	Pectus excavatum
OMIM:610682	TMEM38B	55151	HP:0000938	Osteopenia
OMIM:610682	TMEM38B	55151	HP:0000520	Proptosis
OMIM:610682	TMEM38B	55151	HP:0002757	Recurrent fractures
OMIM:610682	TMEM38B	55151	HP:0002812	Coxa vara
OMIM:610682	TMEM38B	55151	HP:0002979	Bowing of the legs
OMIM:610682	TMEM38B	55151	HP:0000774	Narrow chest
OMIM:610682	TMEM38B	55151	HP:0000007	Autosomal recessive inheritance
OMIM:610682	TMEM38B	55151	HP:0002983	Micromelia
OMIM:610682	TMEM38B	55151	HP:0008905	Rhizomelia
OMIM:610682	TMEM38B	55151	HP:0000126	Hydronephrosis
OMIM:610682	TMEM38B	55151	HP:0000311	Round face
OMIM:610682	TMEM38B	55151	HP:0010537	Wide cranial sutures
OMIM:610682	TMEM38B	55151	HP:0002645	Wormian bones
OMIM:610682	TMEM38B	55151	HP:0000343	Long philtrum
OMIM:610682	TMEM38B	55151	HP:0002650	Scoliosis
OMIM:610682	TMEM38B	55151	HP:0000592	Blue sclerae
OMIM:610682	TMEM38B	55151	HP:0001522	Death in infancy
OMIM:610682	WNT1	7471	HP:0000270	Delayed cranial suture closure
OMIM:610682	WNT1	7471	HP:0000767	Pectus excavatum
OMIM:610682	WNT1	7471	HP:0000938	Osteopenia
OMIM:610682	WNT1	7471	HP:0000520	Proptosis
OMIM:610682	WNT1	7471	HP:0002757	Recurrent fractures
OMIM:610682	WNT1	7471	HP:0002812	Coxa vara
OMIM:610682	WNT1	7471	HP:0002979	Bowing of the legs
OMIM:610682	WNT1	7471	HP:0000774	Narrow chest
OMIM:610682	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:610682	WNT1	7471	HP:0002983	Micromelia
OMIM:610682	WNT1	7471	HP:0008905	Rhizomelia
OMIM:610682	WNT1	7471	HP:0000126	Hydronephrosis
OMIM:610682	WNT1	7471	HP:0000311	Round face
OMIM:610682	WNT1	7471	HP:0010537	Wide cranial sutures
OMIM:610682	WNT1	7471	HP:0002645	Wormian bones
OMIM:610682	WNT1	7471	HP:0000343	Long philtrum
OMIM:610682	WNT1	7471	HP:0002650	Scoliosis
OMIM:610682	WNT1	7471	HP:0000592	Blue sclerae
OMIM:610682	WNT1	7471	HP:0001522	Death in infancy
OMIM:610682	CREB3L1	90993	HP:0000270	Delayed cranial suture closure
OMIM:610682	CREB3L1	90993	HP:0000767	Pectus excavatum
OMIM:610682	CREB3L1	90993	HP:0000938	Osteopenia
OMIM:610682	CREB3L1	90993	HP:0000520	Proptosis
OMIM:610682	CREB3L1	90993	HP:0002757	Recurrent fractures
OMIM:610682	CREB3L1	90993	HP:0002812	Coxa vara
OMIM:610682	CREB3L1	90993	HP:0002979	Bowing of the legs
OMIM:610682	CREB3L1	90993	HP:0000774	Narrow chest
OMIM:610682	CREB3L1	90993	HP:0000007	Autosomal recessive inheritance
OMIM:610682	CREB3L1	90993	HP:0002983	Micromelia
OMIM:610682	CREB3L1	90993	HP:0008905	Rhizomelia
OMIM:610682	CREB3L1	90993	HP:0000126	Hydronephrosis
OMIM:610682	CREB3L1	90993	HP:0000311	Round face
OMIM:610682	CREB3L1	90993	HP:0010537	Wide cranial sutures
OMIM:610682	CREB3L1	90993	HP:0002645	Wormian bones
OMIM:610682	CREB3L1	90993	HP:0000343	Long philtrum
OMIM:610682	CREB3L1	90993	HP:0002650	Scoliosis
OMIM:610682	CREB3L1	90993	HP:0000592	Blue sclerae
OMIM:610682	CREB3L1	90993	HP:0001522	Death in infancy
OMIM:610682	SPARC	6678	HP:0000270	Delayed cranial suture closure
OMIM:610682	SPARC	6678	HP:0000767	Pectus excavatum
OMIM:610682	SPARC	6678	HP:0000938	Osteopenia
OMIM:610682	SPARC	6678	HP:0000520	Proptosis
OMIM:610682	SPARC	6678	HP:0002757	Recurrent fractures
OMIM:610682	SPARC	6678	HP:0002812	Coxa vara
OMIM:610682	SPARC	6678	HP:0002979	Bowing of the legs
OMIM:610682	SPARC	6678	HP:0000774	Narrow chest
OMIM:610682	SPARC	6678	HP:0000007	Autosomal recessive inheritance
OMIM:610682	SPARC	6678	HP:0002983	Micromelia
OMIM:610682	SPARC	6678	HP:0008905	Rhizomelia
OMIM:610682	SPARC	6678	HP:0000126	Hydronephrosis
OMIM:610682	SPARC	6678	HP:0000311	Round face
OMIM:610682	SPARC	6678	HP:0010537	Wide cranial sutures
OMIM:610682	SPARC	6678	HP:0002645	Wormian bones
OMIM:610682	SPARC	6678	HP:0000343	Long philtrum
OMIM:610682	SPARC	6678	HP:0002650	Scoliosis
OMIM:610682	SPARC	6678	HP:0000592	Blue sclerae
OMIM:610682	SPARC	6678	HP:0001522	Death in infancy
OMIM:610682	SERPINF1	5176	HP:0000270	Delayed cranial suture closure
OMIM:610682	SERPINF1	5176	HP:0000767	Pectus excavatum
OMIM:610682	SERPINF1	5176	HP:0000938	Osteopenia
OMIM:610682	SERPINF1	5176	HP:0000520	Proptosis
OMIM:610682	SERPINF1	5176	HP:0002757	Recurrent fractures
OMIM:610682	SERPINF1	5176	HP:0002812	Coxa vara
OMIM:610682	SERPINF1	5176	HP:0002979	Bowing of the legs
OMIM:610682	SERPINF1	5176	HP:0000774	Narrow chest
OMIM:610682	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:610682	SERPINF1	5176	HP:0002983	Micromelia
OMIM:610682	SERPINF1	5176	HP:0008905	Rhizomelia
OMIM:610682	SERPINF1	5176	HP:0000126	Hydronephrosis
OMIM:610682	SERPINF1	5176	HP:0000311	Round face
OMIM:610682	SERPINF1	5176	HP:0010537	Wide cranial sutures
OMIM:610682	SERPINF1	5176	HP:0002645	Wormian bones
OMIM:610682	SERPINF1	5176	HP:0000343	Long philtrum
OMIM:610682	SERPINF1	5176	HP:0002650	Scoliosis
OMIM:610682	SERPINF1	5176	HP:0000592	Blue sclerae
OMIM:610682	SERPINF1	5176	HP:0001522	Death in infancy
OMIM:610682	CRTAP	10491	HP:0000270	Delayed cranial suture closure
OMIM:610682	CRTAP	10491	HP:0000767	Pectus excavatum
OMIM:610682	CRTAP	10491	HP:0000938	Osteopenia
OMIM:610682	CRTAP	10491	HP:0000520	Proptosis
OMIM:610682	CRTAP	10491	HP:0002757	Recurrent fractures
OMIM:610682	CRTAP	10491	HP:0002812	Coxa vara
OMIM:610682	CRTAP	10491	HP:0002979	Bowing of the legs
OMIM:610682	CRTAP	10491	HP:0000774	Narrow chest
OMIM:610682	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:610682	CRTAP	10491	HP:0002983	Micromelia
OMIM:610682	CRTAP	10491	HP:0008905	Rhizomelia
OMIM:610682	CRTAP	10491	HP:0000126	Hydronephrosis
OMIM:610682	CRTAP	10491	HP:0000311	Round face
OMIM:610682	CRTAP	10491	HP:0010537	Wide cranial sutures
OMIM:610682	CRTAP	10491	HP:0002645	Wormian bones
OMIM:610682	CRTAP	10491	HP:0000343	Long philtrum
OMIM:610682	CRTAP	10491	HP:0002650	Scoliosis
OMIM:610682	CRTAP	10491	HP:0000592	Blue sclerae
OMIM:610682	CRTAP	10491	HP:0001522	Death in infancy
OMIM:610682	COL1A1	1277	HP:0000270	Delayed cranial suture closure
OMIM:610682	COL1A1	1277	HP:0000767	Pectus excavatum
OMIM:610682	COL1A1	1277	HP:0000938	Osteopenia
OMIM:610682	COL1A1	1277	HP:0000520	Proptosis
OMIM:610682	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:610682	COL1A1	1277	HP:0002812	Coxa vara
OMIM:610682	COL1A1	1277	HP:0002979	Bowing of the legs
OMIM:610682	COL1A1	1277	HP:0000774	Narrow chest
OMIM:610682	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:610682	COL1A1	1277	HP:0002983	Micromelia
OMIM:610682	COL1A1	1277	HP:0008905	Rhizomelia
OMIM:610682	COL1A1	1277	HP:0000126	Hydronephrosis
OMIM:610682	COL1A1	1277	HP:0000311	Round face
OMIM:610682	COL1A1	1277	HP:0010537	Wide cranial sutures
OMIM:610682	COL1A1	1277	HP:0002645	Wormian bones
OMIM:610682	COL1A1	1277	HP:0000343	Long philtrum
OMIM:610682	COL1A1	1277	HP:0002650	Scoliosis
OMIM:610682	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:610682	COL1A1	1277	HP:0001522	Death in infancy
OMIM:610682	SP7	121340	HP:0000270	Delayed cranial suture closure
OMIM:610682	SP7	121340	HP:0000767	Pectus excavatum
OMIM:610682	SP7	121340	HP:0000938	Osteopenia
OMIM:610682	SP7	121340	HP:0000520	Proptosis
OMIM:610682	SP7	121340	HP:0002757	Recurrent fractures
OMIM:610682	SP7	121340	HP:0002812	Coxa vara
OMIM:610682	SP7	121340	HP:0002979	Bowing of the legs
OMIM:610682	SP7	121340	HP:0000774	Narrow chest
OMIM:610682	SP7	121340	HP:0000007	Autosomal recessive inheritance
OMIM:610682	SP7	121340	HP:0002983	Micromelia
OMIM:610682	SP7	121340	HP:0008905	Rhizomelia
OMIM:610682	SP7	121340	HP:0000126	Hydronephrosis
OMIM:610682	SP7	121340	HP:0000311	Round face
OMIM:610682	SP7	121340	HP:0010537	Wide cranial sutures
OMIM:610682	SP7	121340	HP:0002645	Wormian bones
OMIM:610682	SP7	121340	HP:0000343	Long philtrum
OMIM:610682	SP7	121340	HP:0002650	Scoliosis
OMIM:610682	SP7	121340	HP:0000592	Blue sclerae
OMIM:610682	SP7	121340	HP:0001522	Death in infancy
OMIM:610682	COL1A2	1278	HP:0000270	Delayed cranial suture closure
OMIM:610682	COL1A2	1278	HP:0000767	Pectus excavatum
OMIM:610682	COL1A2	1278	HP:0000938	Osteopenia
OMIM:610682	COL1A2	1278	HP:0000520	Proptosis
OMIM:610682	COL1A2	1278	HP:0002757	Recurrent fractures
OMIM:610682	COL1A2	1278	HP:0002812	Coxa vara
OMIM:610682	COL1A2	1278	HP:0002979	Bowing of the legs
OMIM:610682	COL1A2	1278	HP:0000774	Narrow chest
OMIM:610682	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:610682	COL1A2	1278	HP:0002983	Micromelia
OMIM:610682	COL1A2	1278	HP:0008905	Rhizomelia
OMIM:610682	COL1A2	1278	HP:0000126	Hydronephrosis
OMIM:610682	COL1A2	1278	HP:0000311	Round face
OMIM:610682	COL1A2	1278	HP:0010537	Wide cranial sutures
OMIM:610682	COL1A2	1278	HP:0002645	Wormian bones
OMIM:610682	COL1A2	1278	HP:0000343	Long philtrum
OMIM:610682	COL1A2	1278	HP:0002650	Scoliosis
OMIM:610682	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:610682	COL1A2	1278	HP:0001522	Death in infancy
OMIM:104290	CACNA1A	773	HP:0001268	Mental deterioration
OMIM:104290	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:104290	CACNA1A	773	HP:0001266	Choreoathetosis
OMIM:104290	CACNA1A	773	HP:0002069	Generalized tonic-clonic seizures
OMIM:104290	CACNA1A	773	HP:0001332	Dystonia
OMIM:104290	CACNA1A	773	HP:0001249	Intellectual disability
OMIM:104290	CACNA1A	773	HP:0000639	Nystagmus
OMIM:104290	SLC1A3	6507	HP:0001268	Mental deterioration
OMIM:104290	SLC1A3	6507	HP:0000006	Autosomal dominant inheritance
OMIM:104290	SLC1A3	6507	HP:0001266	Choreoathetosis
OMIM:104290	SLC1A3	6507	HP:0002069	Generalized tonic-clonic seizures
OMIM:104290	SLC1A3	6507	HP:0001332	Dystonia
OMIM:104290	SLC1A3	6507	HP:0001249	Intellectual disability
OMIM:104290	SLC1A3	6507	HP:0000639	Nystagmus
OMIM:104290	ATP1A2	477	HP:0001268	Mental deterioration
OMIM:104290	ATP1A2	477	HP:0000006	Autosomal dominant inheritance
OMIM:104290	ATP1A2	477	HP:0001266	Choreoathetosis
OMIM:104290	ATP1A2	477	HP:0002069	Generalized tonic-clonic seizures
OMIM:104290	ATP1A2	477	HP:0001332	Dystonia
OMIM:104290	ATP1A2	477	HP:0001249	Intellectual disability
OMIM:104290	ATP1A2	477	HP:0000639	Nystagmus
OMIM:104290	ATP1A3	478	HP:0001268	Mental deterioration
OMIM:104290	ATP1A3	478	HP:0000006	Autosomal dominant inheritance
OMIM:104290	ATP1A3	478	HP:0001266	Choreoathetosis
OMIM:104290	ATP1A3	478	HP:0002069	Generalized tonic-clonic seizures
OMIM:104290	ATP1A3	478	HP:0001332	Dystonia
OMIM:104290	ATP1A3	478	HP:0001249	Intellectual disability
OMIM:104290	ATP1A3	478	HP:0000639	Nystagmus
OMIM:615503	WDR34	89891	HP:0000773	Short ribs
OMIM:615503	WDR34	89891	HP:0000007	Autosomal recessive inheritance
OMIM:615503	WDR34	89891	HP:0000256	Macrocephaly
OMIM:615503	WDR34	89891	HP:0003026	Short long bone
OMIM:615503	WDR34	89891	HP:0000774	Narrow chest
OMIM:615503	WDR34	89891	HP:0002089	Pulmonary hypoplasia
OMIM:615503	WDR34	89891	HP:0001629	Ventricular septal defect
OMIM:615503	WDR34	89891	HP:0001561	Polyhydramnios
OMIM:615503	WDR34	89891	HP:0002980	Femoral bowing
OMIM:615503	WDR34	89891	HP:0000062	Ambiguous genitalia
OMIM:615503	WDR34	89891	HP:0001508	Failure to thrive
OMIM:615503	WDR34	89891	HP:0004322	Short stature
OMIM:615503	WDR34	89891	HP:0001156	Brachydactyly syndrome
OMIM:615503	WDR34	89891	HP:0001159	Syndactyly
OMIM:615503	WDR34	89891	HP:0100259	Postaxial polydactyly
OMIM:615503	WDR34	89891	HP:0100258	Preaxial polydactyly
OMIM:615503	WDR34	89891	HP:0005280	Depressed nasal bridge
OMIM:615503	WDR35	57539	HP:0000773	Short ribs
OMIM:615503	WDR35	57539	HP:0000007	Autosomal recessive inheritance
OMIM:615503	WDR35	57539	HP:0000256	Macrocephaly
OMIM:615503	WDR35	57539	HP:0003026	Short long bone
OMIM:615503	WDR35	57539	HP:0000774	Narrow chest
OMIM:615503	WDR35	57539	HP:0002089	Pulmonary hypoplasia
OMIM:615503	WDR35	57539	HP:0001629	Ventricular septal defect
OMIM:615503	WDR35	57539	HP:0001561	Polyhydramnios
OMIM:615503	WDR35	57539	HP:0002980	Femoral bowing
OMIM:615503	WDR35	57539	HP:0000062	Ambiguous genitalia
OMIM:615503	WDR35	57539	HP:0001508	Failure to thrive
OMIM:615503	WDR35	57539	HP:0004322	Short stature
OMIM:615503	WDR35	57539	HP:0001156	Brachydactyly syndrome
OMIM:615503	WDR35	57539	HP:0001159	Syndactyly
OMIM:615503	WDR35	57539	HP:0100259	Postaxial polydactyly
OMIM:615503	WDR35	57539	HP:0100258	Preaxial polydactyly
OMIM:615503	WDR35	57539	HP:0005280	Depressed nasal bridge
OMIM:615503	WDR60	55112	HP:0000773	Short ribs
OMIM:615503	WDR60	55112	HP:0000007	Autosomal recessive inheritance
OMIM:615503	WDR60	55112	HP:0000256	Macrocephaly
OMIM:615503	WDR60	55112	HP:0003026	Short long bone
OMIM:615503	WDR60	55112	HP:0000774	Narrow chest
OMIM:615503	WDR60	55112	HP:0002089	Pulmonary hypoplasia
OMIM:615503	WDR60	55112	HP:0001629	Ventricular septal defect
OMIM:615503	WDR60	55112	HP:0001561	Polyhydramnios
OMIM:615503	WDR60	55112	HP:0002980	Femoral bowing
OMIM:615503	WDR60	55112	HP:0000062	Ambiguous genitalia
OMIM:615503	WDR60	55112	HP:0001508	Failure to thrive
OMIM:615503	WDR60	55112	HP:0004322	Short stature
OMIM:615503	WDR60	55112	HP:0001156	Brachydactyly syndrome
OMIM:615503	WDR60	55112	HP:0001159	Syndactyly
OMIM:615503	WDR60	55112	HP:0100259	Postaxial polydactyly
OMIM:615503	WDR60	55112	HP:0100258	Preaxial polydactyly
OMIM:615503	WDR60	55112	HP:0005280	Depressed nasal bridge
OMIM:615503	IFT80	57560	HP:0000773	Short ribs
OMIM:615503	IFT80	57560	HP:0000007	Autosomal recessive inheritance
OMIM:615503	IFT80	57560	HP:0000256	Macrocephaly
OMIM:615503	IFT80	57560	HP:0003026	Short long bone
OMIM:615503	IFT80	57560	HP:0000774	Narrow chest
OMIM:615503	IFT80	57560	HP:0002089	Pulmonary hypoplasia
OMIM:615503	IFT80	57560	HP:0001629	Ventricular septal defect
OMIM:615503	IFT80	57560	HP:0001561	Polyhydramnios
OMIM:615503	IFT80	57560	HP:0002980	Femoral bowing
OMIM:615503	IFT80	57560	HP:0000062	Ambiguous genitalia
OMIM:615503	IFT80	57560	HP:0001508	Failure to thrive
OMIM:615503	IFT80	57560	HP:0004322	Short stature
OMIM:615503	IFT80	57560	HP:0001156	Brachydactyly syndrome
OMIM:615503	IFT80	57560	HP:0001159	Syndactyly
OMIM:615503	IFT80	57560	HP:0100259	Postaxial polydactyly
OMIM:615503	IFT80	57560	HP:0100258	Preaxial polydactyly
OMIM:615503	IFT80	57560	HP:0005280	Depressed nasal bridge
OMIM:615503	DYNC2H1	79659	HP:0000773	Short ribs
OMIM:615503	DYNC2H1	79659	HP:0000007	Autosomal recessive inheritance
OMIM:615503	DYNC2H1	79659	HP:0000256	Macrocephaly
OMIM:615503	DYNC2H1	79659	HP:0003026	Short long bone
OMIM:615503	DYNC2H1	79659	HP:0000774	Narrow chest
OMIM:615503	DYNC2H1	79659	HP:0002089	Pulmonary hypoplasia
OMIM:615503	DYNC2H1	79659	HP:0001629	Ventricular septal defect
OMIM:615503	DYNC2H1	79659	HP:0001561	Polyhydramnios
OMIM:615503	DYNC2H1	79659	HP:0002980	Femoral bowing
OMIM:615503	DYNC2H1	79659	HP:0000062	Ambiguous genitalia
OMIM:615503	DYNC2H1	79659	HP:0001508	Failure to thrive
OMIM:615503	DYNC2H1	79659	HP:0004322	Short stature
OMIM:615503	DYNC2H1	79659	HP:0001156	Brachydactyly syndrome
OMIM:615503	DYNC2H1	79659	HP:0001159	Syndactyly
OMIM:615503	DYNC2H1	79659	HP:0100259	Postaxial polydactyly
OMIM:615503	DYNC2H1	79659	HP:0100258	Preaxial polydactyly
OMIM:615503	DYNC2H1	79659	HP:0005280	Depressed nasal bridge
OMIM:608097	ARFGEF2	10564	HP:0001252	Muscular hypotonia
OMIM:608097	ARFGEF2	10564	HP:0001250	Seizures
OMIM:608097	ARFGEF2	10564	HP:0000252	Microcephaly
OMIM:608097	ARFGEF2	10564	HP:0001263	Global developmental delay
OMIM:608097	ARFGEF2	10564	HP:0003593	Infantile onset
OMIM:608097	ARFGEF2	10564	HP:0002079	Hypoplasia of the corpus callosum
OMIM:608097	ARFGEF2	10564	HP:0001249	Intellectual disability
OMIM:608097	ARFGEF2	10564	HP:0001508	Failure to thrive
OMIM:608097	ARFGEF2	10564	HP:0000007	Autosomal recessive inheritance
OMIM:608097	ARFGEF2	10564	HP:0002521	Hypsarrhythmia
OMIM:608097	ARFGEF2	10564	HP:0007165	Periventricular gray matter heterotopia
OMIM:608097	ERMARD	55780	HP:0001252	Muscular hypotonia
OMIM:608097	ERMARD	55780	HP:0001250	Seizures
OMIM:608097	ERMARD	55780	HP:0000252	Microcephaly
OMIM:608097	ERMARD	55780	HP:0001263	Global developmental delay
OMIM:608097	ERMARD	55780	HP:0003593	Infantile onset
OMIM:608097	ERMARD	55780	HP:0002079	Hypoplasia of the corpus callosum
OMIM:608097	ERMARD	55780	HP:0001249	Intellectual disability
OMIM:608097	ERMARD	55780	HP:0001508	Failure to thrive
OMIM:608097	ERMARD	55780	HP:0000007	Autosomal recessive inheritance
OMIM:608097	ERMARD	55780	HP:0002521	Hypsarrhythmia
OMIM:608097	ERMARD	55780	HP:0007165	Periventricular gray matter heterotopia
OMIM:608097	FLNA	2316	HP:0001252	Muscular hypotonia
OMIM:608097	FLNA	2316	HP:0001250	Seizures
OMIM:608097	FLNA	2316	HP:0000252	Microcephaly
OMIM:608097	FLNA	2316	HP:0001263	Global developmental delay
OMIM:608097	FLNA	2316	HP:0003593	Infantile onset
OMIM:608097	FLNA	2316	HP:0002079	Hypoplasia of the corpus callosum
OMIM:608097	FLNA	2316	HP:0001249	Intellectual disability
OMIM:608097	FLNA	2316	HP:0001508	Failure to thrive
OMIM:608097	FLNA	2316	HP:0000007	Autosomal recessive inheritance
OMIM:608097	FLNA	2316	HP:0002521	Hypsarrhythmia
OMIM:608097	FLNA	2316	HP:0007165	Periventricular gray matter heterotopia
OMIM:614972	NR1H4	9971	HP:0000007	Autosomal recessive inheritance
OMIM:614972	NR1H4	9971	HP:0000952	Jaundice
OMIM:614972	NR1H4	9971	HP:0001406	Intrahepatic cholestasis
OMIM:614972	NR1H4	9971	HP:0000006	Autosomal dominant inheritance
OMIM:614972	NR1H4	9971	HP:0000989	Pruritus
OMIM:614972	NR1H4	9971	HP:0001622	Premature birth
OMIM:614972	ATP8B1	5205	HP:0000007	Autosomal recessive inheritance
OMIM:614972	ATP8B1	5205	HP:0000952	Jaundice
OMIM:614972	ATP8B1	5205	HP:0001406	Intrahepatic cholestasis
OMIM:614972	ATP8B1	5205	HP:0000006	Autosomal dominant inheritance
OMIM:614972	ATP8B1	5205	HP:0000989	Pruritus
OMIM:614972	ATP8B1	5205	HP:0001622	Premature birth
OMIM:614972	ABCB11	8647	HP:0000007	Autosomal recessive inheritance
OMIM:614972	ABCB11	8647	HP:0000952	Jaundice
OMIM:614972	ABCB11	8647	HP:0001406	Intrahepatic cholestasis
OMIM:614972	ABCB11	8647	HP:0000006	Autosomal dominant inheritance
OMIM:614972	ABCB11	8647	HP:0000989	Pruritus
OMIM:614972	ABCB11	8647	HP:0001622	Premature birth
OMIM:614972	ABCB4	5244	HP:0000007	Autosomal recessive inheritance
OMIM:614972	ABCB4	5244	HP:0000952	Jaundice
OMIM:614972	ABCB4	5244	HP:0001406	Intrahepatic cholestasis
OMIM:614972	ABCB4	5244	HP:0000006	Autosomal dominant inheritance
OMIM:614972	ABCB4	5244	HP:0000989	Pruritus
OMIM:614972	ABCB4	5244	HP:0001622	Premature birth
OMIM:614385	PMS1	5378	HP:0000006	Autosomal dominant inheritance
OMIM:614385	MLH1	4292	HP:0000006	Autosomal dominant inheritance
OMIM:614385	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:614385	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:614385	EPCAM	4072	HP:0000006	Autosomal dominant inheritance
OMIM:614385	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:614385	MSH6	2956	HP:0000006	Autosomal dominant inheritance
OMIM:614385	RPS20	6224	HP:0000006	Autosomal dominant inheritance
OMIM:614385	BMPR1A	657	HP:0000006	Autosomal dominant inheritance
OMIM:614385	PMS2	5395	HP:0000006	Autosomal dominant inheritance
OMIM:614385	MSH2	4436	HP:0000006	Autosomal dominant inheritance
OMIM:614385	MLH3	27030	HP:0000006	Autosomal dominant inheritance
OMIM:614385	LRRFIP2	9209	HP:0000006	Autosomal dominant inheritance
OMIM:607682	CACNB4	785	HP:0007000	Morning myoclonic jerks
OMIM:607682	CACNB4	785	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607682	CACNB4	785	HP:0002121	Absence seizures
OMIM:607682	CACNB4	785	HP:0000006	Autosomal dominant inheritance
OMIM:607682	CACNB4	785	HP:0001425	Heterogeneous
OMIM:607682	CACNB4	785	HP:0002392	EEG with polyspike wave complexes
OMIM:607682	CACNB4	785	HP:0003621	Juvenile onset
OMIM:607682	GABRD	2563	HP:0007000	Morning myoclonic jerks
OMIM:607682	GABRD	2563	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607682	GABRD	2563	HP:0002121	Absence seizures
OMIM:607682	GABRD	2563	HP:0000006	Autosomal dominant inheritance
OMIM:607682	GABRD	2563	HP:0001425	Heterogeneous
OMIM:607682	GABRD	2563	HP:0002392	EEG with polyspike wave complexes
OMIM:607682	GABRD	2563	HP:0003621	Juvenile onset
OMIM:607682	JRK	8629	HP:0007000	Morning myoclonic jerks
OMIM:607682	JRK	8629	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607682	JRK	8629	HP:0002121	Absence seizures
OMIM:607682	JRK	8629	HP:0000006	Autosomal dominant inheritance
OMIM:607682	JRK	8629	HP:0001425	Heterogeneous
OMIM:607682	JRK	8629	HP:0002392	EEG with polyspike wave complexes
OMIM:607682	JRK	8629	HP:0003621	Juvenile onset
OMIM:607682	EFHC1	114327	HP:0007000	Morning myoclonic jerks
OMIM:607682	EFHC1	114327	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607682	EFHC1	114327	HP:0002121	Absence seizures
OMIM:607682	EFHC1	114327	HP:0000006	Autosomal dominant inheritance
OMIM:607682	EFHC1	114327	HP:0001425	Heterogeneous
OMIM:607682	EFHC1	114327	HP:0002392	EEG with polyspike wave complexes
OMIM:607682	EFHC1	114327	HP:0003621	Juvenile onset
OMIM:607682	GABRA1	2554	HP:0007000	Morning myoclonic jerks
OMIM:607682	GABRA1	2554	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607682	GABRA1	2554	HP:0002121	Absence seizures
OMIM:607682	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:607682	GABRA1	2554	HP:0001425	Heterogeneous
OMIM:607682	GABRA1	2554	HP:0002392	EEG with polyspike wave complexes
OMIM:607682	GABRA1	2554	HP:0003621	Juvenile onset
OMIM:607682	KCNQ3	3786	HP:0007000	Morning myoclonic jerks
OMIM:607682	KCNQ3	3786	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607682	KCNQ3	3786	HP:0002121	Absence seizures
OMIM:607682	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:607682	KCNQ3	3786	HP:0001425	Heterogeneous
OMIM:607682	KCNQ3	3786	HP:0002392	EEG with polyspike wave complexes
OMIM:607682	KCNQ3	3786	HP:0003621	Juvenile onset
OMIM:607682	CLCN2	1181	HP:0007000	Morning myoclonic jerks
OMIM:607682	CLCN2	1181	HP:0007193	Generalized tonic-clonic seizures on awakening
OMIM:607682	CLCN2	1181	HP:0002121	Absence seizures
OMIM:607682	CLCN2	1181	HP:0000006	Autosomal dominant inheritance
OMIM:607682	CLCN2	1181	HP:0001425	Heterogeneous
OMIM:607682	CLCN2	1181	HP:0002392	EEG with polyspike wave complexes
OMIM:607682	CLCN2	1181	HP:0003621	Juvenile onset
OMIM:615668	PDE4D	5144	HP:0000508	Ptosis
OMIM:615668	PDE4D	5144	HP:0000750	Delayed speech and language development
OMIM:615668	PDE4D	5144	HP:0000565	Esotropia
OMIM:615668	PDE4D	5144	HP:0001263	Global developmental delay
OMIM:615668	PDE4D	5144	HP:0000343	Long philtrum
OMIM:615668	PDE4D	5144	HP:0000347	Micrognathia
OMIM:615668	PDE4D	5144	HP:0000358	Posteriorly rotated ears
OMIM:615668	PDE4D	5144	HP:0001250	Seizures
OMIM:615668	PDE4D	5144	HP:0001252	Muscular hypotonia
OMIM:615668	PDE4D	5144	HP:0000448	Prominent nose
OMIM:615668	PDE4D	5144	HP:0001510	Growth delay
OMIM:615668	PDE4D	5144	HP:0010511	Long toe
OMIM:615668	PDE4D	5144	HP:0100807	Long fingers
OMIM:615668	PDE4D	5144	HP:0000331	Short chin
OMIM:615668	PDE4D	5144	HP:0001249	Intellectual disability
OMIM:210200	MCCC2	64087	HP:0006573	Acute hepatic steatosis
OMIM:210200	MCCC2	64087	HP:0008281	Acute hyperammonemia
OMIM:210200	MCCC2	64087	HP:0000007	Autosomal recessive inheritance
OMIM:210200	MCCC2	64087	HP:0001254	Lethargy
OMIM:210200	MCCC2	64087	HP:0001943	Hypoglycemia
OMIM:210200	MCCC2	64087	HP:0001249	Intellectual disability
OMIM:210200	MCCC2	64087	HP:0002179	Opisthotonus
OMIM:210200	MCCC2	64087	HP:0001508	Failure to thrive
OMIM:210200	MCCC2	64087	HP:0001250	Seizures
OMIM:210200	MCCC2	64087	HP:0004911	Episodic metabolic acidosis
OMIM:210200	MCCC2	64087	HP:0001347	Hyperreflexia
OMIM:210200	MCCC2	64087	HP:0002919	Ketonuria
OMIM:210200	MCCC2	64087	HP:0003812	Phenotypic variability
OMIM:210200	MCCC2	64087	HP:0001252	Muscular hypotonia
OMIM:210200	MCCC2	64087	HP:0001263	Global developmental delay
OMIM:210200	MCCC2	64087	HP:0002013	Vomiting
OMIM:210200	MCCC2	64087	HP:0008872	Feeding difficulties in infancy
OMIM:210200	MCCC2	64087	HP:0001259	Coma
OMIM:210200	MCCC1	56922	HP:0006573	Acute hepatic steatosis
OMIM:210200	MCCC1	56922	HP:0008281	Acute hyperammonemia
OMIM:210200	MCCC1	56922	HP:0000007	Autosomal recessive inheritance
OMIM:210200	MCCC1	56922	HP:0001254	Lethargy
OMIM:210200	MCCC1	56922	HP:0001943	Hypoglycemia
OMIM:210200	MCCC1	56922	HP:0001249	Intellectual disability
OMIM:210200	MCCC1	56922	HP:0002179	Opisthotonus
OMIM:210200	MCCC1	56922	HP:0001508	Failure to thrive
OMIM:210200	MCCC1	56922	HP:0001250	Seizures
OMIM:210200	MCCC1	56922	HP:0004911	Episodic metabolic acidosis
OMIM:210200	MCCC1	56922	HP:0001347	Hyperreflexia
OMIM:210200	MCCC1	56922	HP:0002919	Ketonuria
OMIM:210200	MCCC1	56922	HP:0003812	Phenotypic variability
OMIM:210200	MCCC1	56922	HP:0001252	Muscular hypotonia
OMIM:210200	MCCC1	56922	HP:0001263	Global developmental delay
OMIM:210200	MCCC1	56922	HP:0002013	Vomiting
OMIM:210200	MCCC1	56922	HP:0008872	Feeding difficulties in infancy
OMIM:210200	MCCC1	56922	HP:0001259	Coma
OMIM:615770	GATA4	2626	HP:0005110	Atrial fibrillation
OMIM:615770	GATA4	2626	HP:0004749	Atrial flutter
OMIM:615770	GATA6	2627	HP:0005110	Atrial fibrillation
OMIM:615770	GATA6	2627	HP:0004749	Atrial flutter
OMIM:615770	KCNE2	9992	HP:0005110	Atrial fibrillation
OMIM:615770	KCNE2	9992	HP:0004749	Atrial flutter
OMIM:615770	KCNQ1	3784	HP:0005110	Atrial fibrillation
OMIM:615770	KCNQ1	3784	HP:0004749	Atrial flutter
OMIM:615770	KCNE1	3753	HP:0005110	Atrial fibrillation
OMIM:615770	KCNE1	3753	HP:0004749	Atrial flutter
OMIM:615770	NKX2-5	1482	HP:0005110	Atrial fibrillation
OMIM:615770	NKX2-5	1482	HP:0004749	Atrial flutter
OMIM:615770	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:615770	ABCC9	10060	HP:0004749	Atrial flutter
OMIM:615770	GJA5	2702	HP:0005110	Atrial fibrillation
OMIM:615770	GJA5	2702	HP:0004749	Atrial flutter
OMIM:615770	NPPA	4878	HP:0005110	Atrial fibrillation
OMIM:615770	NPPA	4878	HP:0004749	Atrial flutter
OMIM:615770	KCNJ2	3759	HP:0005110	Atrial fibrillation
OMIM:615770	KCNJ2	3759	HP:0004749	Atrial flutter
OMIM:615770	NKX2-6	137814	HP:0005110	Atrial fibrillation
OMIM:615770	NKX2-6	137814	HP:0004749	Atrial flutter
OMIM:615770	GATA5	140628	HP:0005110	Atrial fibrillation
OMIM:615770	GATA5	140628	HP:0004749	Atrial flutter
OMIM:615770	SCN2B	6327	HP:0005110	Atrial fibrillation
OMIM:615770	SCN2B	6327	HP:0004749	Atrial flutter
OMIM:615770	SCN3B	55800	HP:0005110	Atrial fibrillation
OMIM:615770	SCN3B	55800	HP:0004749	Atrial flutter
OMIM:615770	SCN4B	6330	HP:0005110	Atrial fibrillation
OMIM:615770	SCN4B	6330	HP:0004749	Atrial flutter
OMIM:615770	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:615770	SCN5A	6331	HP:0004749	Atrial flutter
OMIM:615770	PITX2	5308	HP:0005110	Atrial fibrillation
OMIM:615770	PITX2	5308	HP:0004749	Atrial flutter
OMIM:615770	KCNA5	3741	HP:0005110	Atrial fibrillation
OMIM:615770	KCNA5	3741	HP:0004749	Atrial flutter
OMIM:615770	NUP155	9631	HP:0005110	Atrial fibrillation
OMIM:615770	NUP155	9631	HP:0004749	Atrial flutter
OMIM:612219	EWSR1	2130	HP:0001428	Somatic mutation
OMIM:612219	ETV1	2115	HP:0001428	Somatic mutation
OMIM:612219	ETV4	2118	HP:0001428	Somatic mutation
OMIM:612219	FLI1	2313	HP:0001428	Somatic mutation
OMIM:612219	ERG	2078	HP:0001428	Somatic mutation
OMIM:615095	ZNF335	63925	HP:0000347	Micrognathia
OMIM:615095	ZNF335	63925	HP:0001518	Small for gestational age
OMIM:615095	ZNF335	63925	HP:0002059	Cerebral atrophy
OMIM:615095	ZNF335	63925	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615095	ZNF335	63925	HP:0011344	Severe global developmental delay
OMIM:615095	ZNF335	63925	HP:0001272	Cerebellar atrophy
OMIM:615095	ZNF335	63925	HP:0000453	Choanal atresia
OMIM:615095	ZNF335	63925	HP:0001511	Intrauterine growth retardation
OMIM:615095	ZNF335	63925	HP:0002171	Gliosis
OMIM:615095	ZNF335	63925	HP:0000340	Sloping forehead
OMIM:615095	ZNF335	63925	HP:0000426	Prominent nasal bridge
OMIM:615095	ZNF335	63925	HP:0000518	Cataract
OMIM:615095	ZNF335	63925	HP:0012448	Delayed myelination
OMIM:615095	ZNF335	63925	HP:0003577	Congenital onset
OMIM:615095	ZNF335	63925	HP:0000007	Autosomal recessive inheritance
OMIM:615095	ZNF335	63925	HP:0001257	Spasticity
OMIM:615095	ZNF335	63925	HP:0000252	Microcephaly
OMIM:100800	FGFR3	2261	HP:0002938	Lumbar hyperlordosis
OMIM:100800	FGFR3	2261	HP:0000944	Abnormality of the metaphyses
OMIM:100800	FGFR3	2261	HP:0001156	Brachydactyly syndrome
OMIM:100800	FGFR3	2261	HP:0000774	Narrow chest
OMIM:100800	FGFR3	2261	HP:0000405	Conductive hearing impairment
OMIM:100800	FGFR3	2261	HP:0008905	Rhizomelia
OMIM:100800	FGFR3	2261	HP:0100864	Short femoral neck
OMIM:100800	FGFR3	2261	HP:0003307	Hyperlordosis
OMIM:100800	FGFR3	2261	HP:0000403	Recurrent otitis media
OMIM:100800	FGFR3	2261	HP:0000975	Hyperhidrosis
OMIM:100800	FGFR3	2261	HP:0001382	Joint hypermobility
OMIM:100800	FGFR3	2261	HP:0000238	Hydrocephalus
OMIM:100800	FGFR3	2261	HP:0002677	Small foramen magnum
OMIM:100800	FGFR3	2261	HP:0002007	Frontal bossing
OMIM:100800	FGFR3	2261	HP:0002119	Ventriculomegaly
OMIM:100800	FGFR3	2261	HP:0005280	Depressed nasal bridge
OMIM:100800	FGFR3	2261	HP:0000256	Macrocephaly
OMIM:100800	FGFR3	2261	HP:0000956	Acanthosis nigricans
OMIM:100800	FGFR3	2261	HP:0009826	Limb undergrowth
OMIM:100800	FGFR3	2261	HP:0002104	Apnea
OMIM:100800	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:100800	FGFR3	2261	HP:0000272	Malar flattening
OMIM:100800	FGFR3	2261	HP:0003015	Flared metaphysis
OMIM:100800	FGFR3	2261	HP:0002652	Skeletal dysplasia
OMIM:100800	FGFR3	2261	HP:0000463	Anteverted nares
OMIM:100800	FGFR3	2261	HP:0000772	Abnormality of the ribs
OMIM:100800	FGFR3	2261	HP:0001511	Intrauterine growth retardation
OMIM:100800	FGFR3	2261	HP:0002808	Kyphosis
OMIM:100800	FGFR3	2261	HP:0003312	Abnormal form of the vertebral bodies
OMIM:100800	FGFR3	2261	HP:0000164	Abnormality of the teeth
OMIM:100800	FGFR3	2261	HP:0003042	Elbow dislocation
OMIM:100800	FGFR3	2261	HP:0011800	Hypoplasia of midface
OMIM:100800	FGFR3	2261	HP:0001645	Sudden cardiac death
OMIM:100800	FGFR3	2261	HP:0002167	Neurological speech impairment
OMIM:100800	FGFR3	2261	HP:0002970	Genu varum
OMIM:100800	FGFR3	2261	HP:0001513	Obesity
OMIM:100800	FGFR3	2261	HP:0001270	Motor delay
OMIM:100800	FGFR3	2261	HP:0003416	Spinal canal stenosis
OMIM:100800	FGFR3	2261	HP:0001252	Muscular hypotonia
OMIM:161400	HLA-DRB1	3123	HP:0001425	Heterogeneous
OMIM:161400	HLA-DRB1	3123	HP:0000006	Autosomal dominant inheritance
OMIM:161400	HLA-DRB1	3123	HP:0002189	Excessive daytime sleepiness
OMIM:161400	HCRT	3060	HP:0001425	Heterogeneous
OMIM:161400	HCRT	3060	HP:0000006	Autosomal dominant inheritance
OMIM:161400	HCRT	3060	HP:0002189	Excessive daytime sleepiness
OMIM:161400	MOG	4340	HP:0001425	Heterogeneous
OMIM:161400	MOG	4340	HP:0000006	Autosomal dominant inheritance
OMIM:161400	MOG	4340	HP:0002189	Excessive daytime sleepiness
OMIM:161400	CTSH	1512	HP:0001425	Heterogeneous
OMIM:161400	CTSH	1512	HP:0000006	Autosomal dominant inheritance
OMIM:161400	CTSH	1512	HP:0002189	Excessive daytime sleepiness
OMIM:161400	P2RY11	5032	HP:0001425	Heterogeneous
OMIM:161400	P2RY11	5032	HP:0000006	Autosomal dominant inheritance
OMIM:161400	P2RY11	5032	HP:0002189	Excessive daytime sleepiness
OMIM:161400	ZNF365	22891	HP:0001425	Heterogeneous
OMIM:161400	ZNF365	22891	HP:0000006	Autosomal dominant inheritance
OMIM:161400	ZNF365	22891	HP:0002189	Excessive daytime sleepiness
OMIM:161400	TNFSF4	7292	HP:0001425	Heterogeneous
OMIM:161400	TNFSF4	7292	HP:0000006	Autosomal dominant inheritance
OMIM:161400	TNFSF4	7292	HP:0002189	Excessive daytime sleepiness
OMIM:161400	HLA-DQB1	3119	HP:0001425	Heterogeneous
OMIM:161400	HLA-DQB1	3119	HP:0000006	Autosomal dominant inheritance
OMIM:161400	HLA-DQB1	3119	HP:0002189	Excessive daytime sleepiness
OMIM:616577	SPATA5	166378	HP:0000486	Strabismus
OMIM:616577	SPATA5	166378	HP:0001257	Spasticity
OMIM:616577	SPATA5	166378	HP:0003429	CNS hypomyelination
OMIM:616577	SPATA5	166378	HP:0008936	Muscular hypotonia of the trunk
OMIM:616577	SPATA5	166378	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616577	SPATA5	166378	HP:0002509	Limb hypertonia
OMIM:616577	SPATA5	166378	HP:0001249	Intellectual disability
OMIM:616577	SPATA5	166378	HP:0100704	Cortical visual impairment
OMIM:616577	SPATA5	166378	HP:0001344	Absent speech
OMIM:616577	SPATA5	166378	HP:0000407	Sensorineural hearing impairment
OMIM:616577	SPATA5	166378	HP:0011968	Feeding difficulties
OMIM:616577	SPATA5	166378	HP:0000639	Nystagmus
OMIM:616577	SPATA5	166378	HP:0001508	Failure to thrive
OMIM:616577	SPATA5	166378	HP:0001263	Global developmental delay
OMIM:616577	SPATA5	166378	HP:0000252	Microcephaly
OMIM:616577	SPATA5	166378	HP:0001250	Seizures
OMIM:616577	SPATA5	166378	HP:0001873	Thrombocytopenia
OMIM:616577	SPATA5	166378	HP:0002721	Immunodeficiency
OMIM:616577	SPATA5	166378	HP:0002650	Scoliosis
OMIM:616577	SPATA5	166378	HP:0002353	EEG abnormality
OMIM:616430	MARS2	92935	HP:0003196	Short nose
OMIM:616430	MARS2	92935	HP:0004322	Short stature
OMIM:616430	MARS2	92935	HP:0001252	Muscular hypotonia
OMIM:616430	MARS2	92935	HP:0005280	Depressed nasal bridge
OMIM:616430	MARS2	92935	HP:0000343	Long philtrum
OMIM:616430	MARS2	92935	HP:0000316	Hypertelorism
OMIM:616430	MARS2	92935	HP:0000369	Low-set ears
OMIM:616430	MARS2	92935	HP:0000463	Anteverted nares
OMIM:616430	MARS2	92935	HP:0000431	Wide nasal bridge
OMIM:616430	MARS2	92935	HP:0001272	Cerebellar atrophy
OMIM:616430	MARS2	92935	HP:0001263	Global developmental delay
OMIM:616430	MARS2	92935	HP:0000768	Pectus carinatum
OMIM:616430	MARS2	92935	HP:0000824	Growth hormone deficiency
OMIM:616430	MARS2	92935	HP:0002059	Cerebral atrophy
OMIM:616430	MARS2	92935	HP:0011968	Feeding difficulties
OMIM:613490	SERPINA1	5265	HP:0006510	Chronic obstructive pulmonary disease
OMIM:613490	SERPINA1	5265	HP:0001399	Hepatic failure
OMIM:613490	SERPINA1	5265	HP:0002240	Hepatomegaly
OMIM:613490	SERPINA1	5265	HP:0002097	Emphysema
OMIM:613490	SERPINA1	5265	HP:0000007	Autosomal recessive inheritance
OMIM:613490	SERPINA1	5265	HP:0001394	Cirrhosis
OMIM:613490	SERPINA1	5265	HP:0002910	Elevated hepatic transaminases
OMIM:613490	SERPINA1	5265	HP:0000100	Nephrotic syndrome
OMIM:609432	BHLHA9	727857	HP:0000954	Single transverse palmar crease
OMIM:609432	BHLHA9	727857	HP:0004209	Clinodactyly of the 5th finger
OMIM:609432	BHLHA9	727857	HP:0001770	Toe syndactyly
OMIM:609432	BHLHA9	727857	HP:0000007	Autosomal recessive inheritance
OMIM:609432	BHLHA9	727857	HP:0005048	Synostosis of carpal bones
OMIM:609432	BHLHA9	727857	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
OMIM:609432	BHLHA9	727857	HP:0010109	Short hallux
OMIM:609432	BHLHA9	727857	HP:0001156	Brachydactyly syndrome
OMIM:609432	BHLHA9	727857	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:609432	BHLHA9	727857	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
OMIM:609432	BHLHA9	727857	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:609432	BHLHA9	727857	HP:0001163	Abnormality of the metacarpal bones
OMIM:609432	BHLHA9	727857	HP:0008362	Aplasia/Hypoplasia of the hallux
OMIM:609015	HADHA	3030	HP:0001518	Small for gestational age
OMIM:609015	HADHA	3030	HP:0001644	Dilated cardiomyopathy
OMIM:609015	HADHA	3030	HP:0001560	Abnormality of the amniotic fluid
OMIM:609015	HADHA	3030	HP:0001508	Failure to thrive
OMIM:609015	HADHA	3030	HP:0003326	Myalgia
OMIM:609015	HADHA	3030	HP:0002910	Elevated hepatic transaminases
OMIM:609015	HADHA	3030	HP:0003201	Rhabdomyolysis
OMIM:609015	HADHA	3030	HP:0001987	Hyperammonemia
OMIM:609015	HADHA	3030	HP:0001252	Muscular hypotonia
OMIM:609015	HADHA	3030	HP:0001789	Hydrops fetalis
OMIM:609015	HADHA	3030	HP:0003324	Generalized muscle weakness
OMIM:609015	HADHA	3030	HP:0009830	Peripheral neuropathy
OMIM:609015	HADHA	3030	HP:0002878	Respiratory failure
OMIM:609015	HADHA	3030	HP:0002913	Myoglobinuria
OMIM:609015	HADHA	3030	HP:0000580	Pigmentary retinopathy
OMIM:609015	HADHA	3030	HP:0001263	Global developmental delay
OMIM:609015	HADHA	3030	HP:0003128	Lactic acidosis
OMIM:609015	HADHA	3030	HP:0000007	Autosomal recessive inheritance
OMIM:609015	HADHA	3030	HP:0001635	Congestive heart failure
OMIM:609015	HADHA	3030	HP:0002686	Prenatal maternal abnormality
OMIM:609015	HADHB	3032	HP:0001518	Small for gestational age
OMIM:609015	HADHB	3032	HP:0001644	Dilated cardiomyopathy
OMIM:609015	HADHB	3032	HP:0001560	Abnormality of the amniotic fluid
OMIM:609015	HADHB	3032	HP:0001508	Failure to thrive
OMIM:609015	HADHB	3032	HP:0003326	Myalgia
OMIM:609015	HADHB	3032	HP:0002910	Elevated hepatic transaminases
OMIM:609015	HADHB	3032	HP:0003201	Rhabdomyolysis
OMIM:609015	HADHB	3032	HP:0001987	Hyperammonemia
OMIM:609015	HADHB	3032	HP:0001252	Muscular hypotonia
OMIM:609015	HADHB	3032	HP:0001789	Hydrops fetalis
OMIM:609015	HADHB	3032	HP:0003324	Generalized muscle weakness
OMIM:609015	HADHB	3032	HP:0009830	Peripheral neuropathy
OMIM:609015	HADHB	3032	HP:0002878	Respiratory failure
OMIM:609015	HADHB	3032	HP:0002913	Myoglobinuria
OMIM:609015	HADHB	3032	HP:0000580	Pigmentary retinopathy
OMIM:609015	HADHB	3032	HP:0001263	Global developmental delay
OMIM:609015	HADHB	3032	HP:0003128	Lactic acidosis
OMIM:609015	HADHB	3032	HP:0000007	Autosomal recessive inheritance
OMIM:609015	HADHB	3032	HP:0001635	Congestive heart failure
OMIM:609015	HADHB	3032	HP:0002686	Prenatal maternal abnormality
ORPHANET:2514	DPP6	1804	HP:0000377	Abnormality of the pinna
ORPHANET:2514	DPP6	1804	HP:0000639	Nystagmus
ORPHANET:2514	DPP6	1804	HP:0009804	Reduced number of teeth
ORPHANET:2514	DPP6	1804	HP:0000252	Microcephaly
ORPHANET:2514	DPP6	1804	HP:0004322	Short stature
ORPHANET:2514	DPP6	1804	HP:0000486	Strabismus
OMIM:601321	MAP2K2	5605	HP:0000765	Abnormality of the thorax
OMIM:601321	MAP2K2	5605	HP:0000470	Short neck
OMIM:601321	MAP2K2	5605	HP:0001642	Pulmonic stenosis
OMIM:601321	MAP2K2	5605	HP:0100543	Cognitive impairment
OMIM:601321	MAP2K2	5605	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:601321	MAP2K2	5605	HP:0000369	Low-set ears
OMIM:601321	MAP2K2	5605	HP:0000508	Ptosis
OMIM:601321	MAP2K2	5605	HP:0005280	Depressed nasal bridge
OMIM:601321	MAP2K2	5605	HP:0000006	Autosomal dominant inheritance
OMIM:601321	MAP2K2	5605	HP:0004322	Short stature
OMIM:601321	MAP2K2	5605	HP:0000494	Downslanted palpebral fissures
OMIM:601321	MAP2K2	5605	HP:0000957	Cafe-au-lait spot
OMIM:601321	MAP2K2	5605	HP:0000915	Pectus excavatum of inferior sternum
OMIM:601321	MAP2K2	5605	HP:0002967	Cubitus valgus
OMIM:601321	MAP2K2	5605	HP:0001928	Abnormality of coagulation
OMIM:601321	MAP2K2	5605	HP:0008872	Feeding difficulties in infancy
OMIM:601321	MAP2K2	5605	HP:0000465	Webbed neck
OMIM:601321	MAP2K2	5605	HP:0002650	Scoliosis
OMIM:601321	MAP2K2	5605	HP:0000286	Epicanthus
OMIM:601321	MAP2K2	5605	HP:0001263	Global developmental delay
OMIM:601321	MAP2K2	5605	HP:0000028	Cryptorchidism
OMIM:601321	MAP2K2	5605	HP:0001639	Hypertrophic cardiomyopathy
OMIM:601321	MAP2K2	5605	HP:0002162	Low posterior hairline
OMIM:601321	MAP2K2	5605	HP:0011800	Hypoplasia of midface
OMIM:601321	MAP2K2	5605	HP:0000316	Hypertelorism
OMIM:601321	MAP2K2	5605	HP:0000272	Malar flattening
OMIM:601321	MAP2K2	5605	HP:0100763	Abnormality of the lymphatic system
OMIM:601321	MAP2K2	5605	HP:0000917	Superior pectus carinatum
OMIM:601321	MAP2K2	5605	HP:0001324	Muscle weakness
OMIM:601321	MAP2K2	5605	HP:0001067	Neurofibromas
OMIM:601321	MAP2K2	5605	HP:0000358	Posteriorly rotated ears
OMIM:601321	MAP2K2	5605	HP:0000256	Macrocephaly
OMIM:601321	MAP2K2	5605	HP:0011039	Abnormality of the helix
OMIM:601321	MAP2K2	5605	HP:0001641	Abnormality of the pulmonary valve
OMIM:601321	MAP2K2	5605	HP:0000750	Delayed speech and language development
OMIM:601321	MAP2K2	5605	HP:0000368	Low-set, posteriorly rotated ears
OMIM:601321	MAP2K2	5605	HP:0001328	Specific learning disability
OMIM:601321	NF1	4763	HP:0000765	Abnormality of the thorax
OMIM:601321	NF1	4763	HP:0000470	Short neck
OMIM:601321	NF1	4763	HP:0001642	Pulmonic stenosis
OMIM:601321	NF1	4763	HP:0100543	Cognitive impairment
OMIM:601321	NF1	4763	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:601321	NF1	4763	HP:0000369	Low-set ears
OMIM:601321	NF1	4763	HP:0000508	Ptosis
OMIM:601321	NF1	4763	HP:0005280	Depressed nasal bridge
OMIM:601321	NF1	4763	HP:0000006	Autosomal dominant inheritance
OMIM:601321	NF1	4763	HP:0004322	Short stature
OMIM:601321	NF1	4763	HP:0000494	Downslanted palpebral fissures
OMIM:601321	NF1	4763	HP:0000957	Cafe-au-lait spot
OMIM:601321	NF1	4763	HP:0000915	Pectus excavatum of inferior sternum
OMIM:601321	NF1	4763	HP:0002967	Cubitus valgus
OMIM:601321	NF1	4763	HP:0001928	Abnormality of coagulation
OMIM:601321	NF1	4763	HP:0008872	Feeding difficulties in infancy
OMIM:601321	NF1	4763	HP:0000465	Webbed neck
OMIM:601321	NF1	4763	HP:0002650	Scoliosis
OMIM:601321	NF1	4763	HP:0000286	Epicanthus
OMIM:601321	NF1	4763	HP:0001263	Global developmental delay
OMIM:601321	NF1	4763	HP:0000028	Cryptorchidism
OMIM:601321	NF1	4763	HP:0001639	Hypertrophic cardiomyopathy
OMIM:601321	NF1	4763	HP:0002162	Low posterior hairline
OMIM:601321	NF1	4763	HP:0011800	Hypoplasia of midface
OMIM:601321	NF1	4763	HP:0000316	Hypertelorism
OMIM:601321	NF1	4763	HP:0000272	Malar flattening
OMIM:601321	NF1	4763	HP:0100763	Abnormality of the lymphatic system
OMIM:601321	NF1	4763	HP:0000917	Superior pectus carinatum
OMIM:601321	NF1	4763	HP:0001324	Muscle weakness
OMIM:601321	NF1	4763	HP:0001067	Neurofibromas
OMIM:601321	NF1	4763	HP:0000358	Posteriorly rotated ears
OMIM:601321	NF1	4763	HP:0000256	Macrocephaly
OMIM:601321	NF1	4763	HP:0011039	Abnormality of the helix
OMIM:601321	NF1	4763	HP:0001641	Abnormality of the pulmonary valve
OMIM:601321	NF1	4763	HP:0000750	Delayed speech and language development
OMIM:601321	NF1	4763	HP:0000368	Low-set, posteriorly rotated ears
OMIM:601321	NF1	4763	HP:0001328	Specific learning disability
OMIM:229050	SLC46A1	113235	HP:0005528	Bone marrow hypocellularity
OMIM:229050	SLC46A1	113235	HP:0001889	Megaloblastic anemia
OMIM:229050	SLC46A1	113235	HP:0002305	Athetosis
OMIM:229050	SLC46A1	113235	HP:0000010	Recurrent urinary tract infections
OMIM:229050	SLC46A1	113235	HP:0001250	Seizures
OMIM:229050	SLC46A1	113235	HP:0001882	Leukopenia
OMIM:229050	SLC46A1	113235	HP:0000980	Pallor
OMIM:229050	SLC46A1	113235	HP:0100543	Cognitive impairment
OMIM:229050	SLC46A1	113235	HP:0001508	Failure to thrive
OMIM:229050	SLC46A1	113235	HP:0004313	Decreased antibody level in blood
OMIM:229050	SLC46A1	113235	HP:0008872	Feeding difficulties in infancy
OMIM:229050	SLC46A1	113235	HP:0002024	Malabsorption
OMIM:229050	SLC46A1	113235	HP:0000007	Autosomal recessive inheritance
OMIM:229050	SLC46A1	113235	HP:0003593	Infantile onset
OMIM:229050	SLC46A1	113235	HP:0001251	Ataxia
OMIM:229050	SLC46A1	113235	HP:0001875	Neutropenia
OMIM:229050	SLC46A1	113235	HP:0002039	Anorexia
OMIM:229050	SLC46A1	113235	HP:0002719	Recurrent infections
OMIM:229050	SLC46A1	113235	HP:0009830	Peripheral neuropathy
OMIM:229050	SLC46A1	113235	HP:0001263	Global developmental delay
OMIM:229050	SLC46A1	113235	HP:0001347	Hyperreflexia
OMIM:229050	SLC46A1	113235	HP:0100660	Dyskinesia
OMIM:229050	SLC46A1	113235	HP:0001873	Thrombocytopenia
OMIM:229050	SLC46A1	113235	HP:0001252	Muscular hypotonia
OMIM:229050	SLC46A1	113235	HP:0003202	Skeletal muscle atrophy
OMIM:229050	SLC46A1	113235	HP:0001249	Intellectual disability
OMIM:229050	SLC46A1	113235	HP:0002017	Nausea and vomiting
OMIM:229050	SLC46A1	113235	HP:0000737	Irritability
OMIM:229050	SLC46A1	113235	HP:0002014	Diarrhea
OMIM:229050	SLC46A1	113235	HP:0002135	Basal ganglia calcification
OMIM:229050	SLC46A1	113235	HP:0002514	Cerebral calcification
OMIM:229050	SLC46A1	113235	HP:0000708	Behavioral abnormality
OMIM:229050	SLC46A1	113235	HP:0002205	Recurrent respiratory infections
OMIM:229050	SLC46A1	113235	HP:0001879	Abnormality of eosinophils
OMIM:201470	ACADS	35	HP:0000007	Autosomal recessive inheritance
OMIM:201470	ACADS	35	HP:0004911	Episodic metabolic acidosis
OMIM:201470	ACADS	35	HP:0001254	Lethargy
OMIM:201470	ACADS	35	HP:0010628	Facial palsy
OMIM:201470	ACADS	35	HP:0000750	Delayed speech and language development
OMIM:201470	ACADS	35	HP:0001252	Muscular hypotonia
OMIM:201470	ACADS	35	HP:0001508	Failure to thrive
OMIM:201470	ACADS	35	HP:0000544	External ophthalmoplegia
OMIM:201470	ACADS	35	HP:0000709	Psychosis
OMIM:201470	ACADS	35	HP:0003198	Myopathy
OMIM:201470	ACADS	35	HP:0003623	Neonatal onset
OMIM:201470	ACADS	35	HP:0001263	Global developmental delay
OMIM:201470	ACADS	35	HP:0008872	Feeding difficulties in infancy
OMIM:201470	ACADS	35	HP:0002500	Abnormality of the cerebral white matter
OMIM:201470	ACADS	35	HP:0001371	Flexion contracture
OMIM:201470	ACADS	35	HP:0001638	Cardiomyopathy
OMIM:201470	ACADS	35	HP:0002650	Scoliosis
OMIM:201470	ACADS	35	HP:0001250	Seizures
OMIM:210000	C12ORF65	91574	HP:0000648	Optic atrophy
OMIM:210000	C12ORF65	91574	HP:0000639	Nystagmus
OMIM:210000	C12ORF65	91574	HP:0000486	Strabismus
OMIM:210000	C12ORF65	91574	HP:0100543	Cognitive impairment
OMIM:210000	C12ORF65	91574	HP:0001771	Achilles tendon contracture
OMIM:210000	C12ORF65	91574	HP:0001272	Cerebellar atrophy
OMIM:210000	C12ORF65	91574	HP:0001276	Hypertonia
OMIM:210000	C12ORF65	91574	HP:0002311	Incoordination
OMIM:210000	C12ORF65	91574	HP:0000551	Abnormality of color vision
OMIM:210000	C12ORF65	91574	HP:0001251	Ataxia
OMIM:210000	C12ORF65	91574	HP:0001288	Gait disturbance
OMIM:210000	C12ORF65	91574	HP:0003487	Babinski sign
OMIM:210000	C12ORF65	91574	HP:0001347	Hyperreflexia
OMIM:210000	C12ORF65	91574	HP:0000505	Visual impairment
OMIM:210000	C12ORF65	91574	HP:0001249	Intellectual disability
OMIM:210000	C12ORF65	91574	HP:0000007	Autosomal recessive inheritance
OMIM:161200	LMX1B	4010	HP:0000100	Nephrotic syndrome
OMIM:161200	LMX1B	4010	HP:0000501	Glaucoma
OMIM:161200	LMX1B	4010	HP:0002652	Skeletal dysplasia
OMIM:161200	LMX1B	4010	HP:0004209	Clinodactyly of the 5th finger
OMIM:161200	LMX1B	4010	HP:0002650	Scoliosis
OMIM:161200	LMX1B	4010	HP:0002967	Cubitus valgus
OMIM:161200	LMX1B	4010	HP:0000508	Ptosis
OMIM:161200	LMX1B	4010	HP:0001032	Absent distal interphalangeal creases
OMIM:161200	LMX1B	4010	HP:0000365	Hearing impairment
OMIM:161200	LMX1B	4010	HP:0001798	Anonychia
OMIM:161200	LMX1B	4010	HP:0001762	Talipes equinovarus
OMIM:161200	LMX1B	4010	HP:0000083	Renal insufficiency
OMIM:161200	LMX1B	4010	HP:0000563	Keratoconus
OMIM:161200	LMX1B	4010	HP:0006443	Patellar aplasia
OMIM:161200	LMX1B	4010	HP:0002758	Osteoarthritis
OMIM:161200	LMX1B	4010	HP:0000006	Autosomal dominant inheritance
OMIM:161200	LMX1B	4010	HP:0000093	Proteinuria
OMIM:161200	LMX1B	4010	HP:0000822	Hypertension
OMIM:161200	LMX1B	4010	HP:0000175	Cleft palate
OMIM:161200	LMX1B	4010	HP:0000790	Hematuria
OMIM:161200	LMX1B	4010	HP:0002414	Spina bifida
OMIM:161200	LMX1B	4010	HP:0001373	Joint dislocation
OMIM:161200	LMX1B	4010	HP:0002633	Vasculitis
OMIM:161200	LMX1B	4010	HP:0001376	Limitation of joint mobility
OMIM:161200	LMX1B	4010	HP:0000767	Pectus excavatum
OMIM:161200	LMX1B	4010	HP:0000407	Sensorineural hearing impairment
OMIM:161200	LMX1B	4010	HP:0100777	Exostoses
OMIM:161200	LMX1B	4010	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:161200	LMX1B	4010	HP:0001382	Joint hypermobility
OMIM:161200	LMX1B	4010	HP:0001800	Hypoplastic toenails
OMIM:161200	LMX1B	4010	HP:0001231	Abnormality of the fingernails
OMIM:161200	LMX1B	4010	HP:0000204	Cleft upper lip
OMIM:161200	LMX1B	4010	HP:0000099	Glomerulonephritis
OMIM:161200	LMX1B	4010	HP:0002938	Lumbar hyperlordosis
OMIM:161200	LMX1B	4010	HP:0001763	Pes planus
OMIM:161200	LMX1B	4010	HP:0000518	Cataract
OMIM:161200	LMX1B	4010	HP:0002999	Patellar dislocation
OMIM:161200	LMX1B	4010	HP:0000912	Sprengel anomaly
OMIM:161200	LMX1B	4010	HP:0000482	Microcornea
OMIM:161200	LMX1B	4010	HP:0000112	Nephropathy
OMIM:161200	LMX1B	4010	HP:0004322	Short stature
OMIM:612370	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	PROK2	60675	HP:0000458	Anosmia
OMIM:612370	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:612370	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	PROKR2	128674	HP:0000458	Anosmia
OMIM:612370	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:612370	SEMA3A	10371	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	SEMA3A	10371	HP:0000458	Anosmia
OMIM:612370	SEMA3A	10371	HP:0000006	Autosomal dominant inheritance
OMIM:612370	IL17RD	54756	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	IL17RD	54756	HP:0000458	Anosmia
OMIM:612370	IL17RD	54756	HP:0000006	Autosomal dominant inheritance
OMIM:612370	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	WDR11	55717	HP:0000458	Anosmia
OMIM:612370	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:612370	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	KISS1	3814	HP:0000458	Anosmia
OMIM:612370	KISS1	3814	HP:0000006	Autosomal dominant inheritance
OMIM:612370	SOX10	6663	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	SOX10	6663	HP:0000458	Anosmia
OMIM:612370	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:612370	FEZF1	389549	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	FEZF1	389549	HP:0000458	Anosmia
OMIM:612370	FEZF1	389549	HP:0000006	Autosomal dominant inheritance
OMIM:612370	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	GNRH1	2796	HP:0000458	Anosmia
OMIM:612370	GNRH1	2796	HP:0000006	Autosomal dominant inheritance
OMIM:612370	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	FGF8	2253	HP:0000458	Anosmia
OMIM:612370	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:612370	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	GNRHR	2798	HP:0000458	Anosmia
OMIM:612370	GNRHR	2798	HP:0000006	Autosomal dominant inheritance
OMIM:612370	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	ANOS1	3730	HP:0000458	Anosmia
OMIM:612370	ANOS1	3730	HP:0000006	Autosomal dominant inheritance
OMIM:612370	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	TAC3	6866	HP:0000458	Anosmia
OMIM:612370	TAC3	6866	HP:0000006	Autosomal dominant inheritance
OMIM:612370	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	HS6ST1	9394	HP:0000458	Anosmia
OMIM:612370	HS6ST1	9394	HP:0000006	Autosomal dominant inheritance
OMIM:612370	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	CHD7	55636	HP:0000458	Anosmia
OMIM:612370	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:612370	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	FGFR1	2260	HP:0000458	Anosmia
OMIM:612370	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:612370	HESX1	8820	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	HESX1	8820	HP:0000458	Anosmia
OMIM:612370	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:612370	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	TACR3	6870	HP:0000458	Anosmia
OMIM:612370	TACR3	6870	HP:0000006	Autosomal dominant inheritance
OMIM:612370	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	FGF17	8822	HP:0000458	Anosmia
OMIM:612370	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:612370	FLRT3	23767	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	FLRT3	23767	HP:0000458	Anosmia
OMIM:612370	FLRT3	23767	HP:0000006	Autosomal dominant inheritance
OMIM:612370	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	DUSP6	1848	HP:0000458	Anosmia
OMIM:612370	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:612370	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	SPRY4	81848	HP:0000458	Anosmia
OMIM:612370	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:612370	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	KISS1R	84634	HP:0000458	Anosmia
OMIM:612370	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:612370	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612370	NSMF	26012	HP:0000458	Anosmia
OMIM:612370	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:183086	CACNA1A	773	HP:0002015	Dysphagia
OMIM:183086	CACNA1A	773	HP:0002076	Migraine
OMIM:183086	CACNA1A	773	HP:0000763	Sensory neuropathy
OMIM:183086	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:183086	CACNA1A	773	HP:0003676	Progressive
OMIM:183086	CACNA1A	773	HP:0007670	Abnormal vestibulo-ocular reflex
OMIM:183086	CACNA1A	773	HP:0007772	Impaired smooth pursuit
OMIM:183086	CACNA1A	773	HP:0001272	Cerebellar atrophy
OMIM:183086	CACNA1A	773	HP:0001260	Dysarthria
OMIM:183086	CACNA1A	773	HP:0000640	Gaze-evoked nystagmus
OMIM:220110	COX1	4512	HP:0001249	Intellectual disability
OMIM:220110	COX1	4512	HP:0000093	Proteinuria
OMIM:220110	COX1	4512	HP:0001251	Ataxia
OMIM:220110	COX1	4512	HP:0000648	Optic atrophy
OMIM:220110	COX1	4512	HP:0001263	Global developmental delay
OMIM:220110	COX1	4512	HP:0001250	Seizures
OMIM:220110	COX1	4512	HP:0001508	Failure to thrive
OMIM:220110	COX1	4512	HP:0003128	Lactic acidosis
OMIM:220110	COX1	4512	HP:0000508	Ptosis
OMIM:220110	COX1	4512	HP:0001410	Decreased liver function
OMIM:220110	COX1	4512	HP:0001270	Motor delay
OMIM:220110	COX1	4512	HP:0002240	Hepatomegaly
OMIM:220110	COX1	4512	HP:0002880	Respiratory difficulties
OMIM:220110	COX1	4512	HP:0001252	Muscular hypotonia
OMIM:220110	COX1	4512	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COX1	4512	HP:0002151	Increased serum lactate
OMIM:220110	COX1	4512	HP:0001427	Mitochondrial inheritance
OMIM:220110	COX1	4512	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COX1	4512	HP:0003355	Aminoaciduria
OMIM:220110	COX1	4512	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COX1	4512	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COX1	4512	HP:0000580	Pigmentary retinopathy
OMIM:220110	COX1	4512	HP:0002490	Increased CSF lactate
OMIM:220110	COX1	4512	HP:0003546	Exercise intolerance
OMIM:220110	COX1	4512	HP:0001903	Anemia
OMIM:220110	COX2	4513	HP:0001249	Intellectual disability
OMIM:220110	COX2	4513	HP:0000093	Proteinuria
OMIM:220110	COX2	4513	HP:0001251	Ataxia
OMIM:220110	COX2	4513	HP:0000648	Optic atrophy
OMIM:220110	COX2	4513	HP:0001263	Global developmental delay
OMIM:220110	COX2	4513	HP:0001250	Seizures
OMIM:220110	COX2	4513	HP:0001508	Failure to thrive
OMIM:220110	COX2	4513	HP:0003128	Lactic acidosis
OMIM:220110	COX2	4513	HP:0000508	Ptosis
OMIM:220110	COX2	4513	HP:0001410	Decreased liver function
OMIM:220110	COX2	4513	HP:0001270	Motor delay
OMIM:220110	COX2	4513	HP:0002240	Hepatomegaly
OMIM:220110	COX2	4513	HP:0002880	Respiratory difficulties
OMIM:220110	COX2	4513	HP:0001252	Muscular hypotonia
OMIM:220110	COX2	4513	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COX2	4513	HP:0002151	Increased serum lactate
OMIM:220110	COX2	4513	HP:0001427	Mitochondrial inheritance
OMIM:220110	COX2	4513	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COX2	4513	HP:0003355	Aminoaciduria
OMIM:220110	COX2	4513	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COX2	4513	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COX2	4513	HP:0000580	Pigmentary retinopathy
OMIM:220110	COX2	4513	HP:0002490	Increased CSF lactate
OMIM:220110	COX2	4513	HP:0003546	Exercise intolerance
OMIM:220110	COX2	4513	HP:0001903	Anemia
OMIM:220110	COX3	4514	HP:0001249	Intellectual disability
OMIM:220110	COX3	4514	HP:0000093	Proteinuria
OMIM:220110	COX3	4514	HP:0001251	Ataxia
OMIM:220110	COX3	4514	HP:0000648	Optic atrophy
OMIM:220110	COX3	4514	HP:0001263	Global developmental delay
OMIM:220110	COX3	4514	HP:0001250	Seizures
OMIM:220110	COX3	4514	HP:0001508	Failure to thrive
OMIM:220110	COX3	4514	HP:0003128	Lactic acidosis
OMIM:220110	COX3	4514	HP:0000508	Ptosis
OMIM:220110	COX3	4514	HP:0001410	Decreased liver function
OMIM:220110	COX3	4514	HP:0001270	Motor delay
OMIM:220110	COX3	4514	HP:0002240	Hepatomegaly
OMIM:220110	COX3	4514	HP:0002880	Respiratory difficulties
OMIM:220110	COX3	4514	HP:0001252	Muscular hypotonia
OMIM:220110	COX3	4514	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COX3	4514	HP:0002151	Increased serum lactate
OMIM:220110	COX3	4514	HP:0001427	Mitochondrial inheritance
OMIM:220110	COX3	4514	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COX3	4514	HP:0003355	Aminoaciduria
OMIM:220110	COX3	4514	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COX3	4514	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COX3	4514	HP:0000580	Pigmentary retinopathy
OMIM:220110	COX3	4514	HP:0002490	Increased CSF lactate
OMIM:220110	COX3	4514	HP:0003546	Exercise intolerance
OMIM:220110	COX3	4514	HP:0001903	Anemia
OMIM:220110	TACO1	51204	HP:0001249	Intellectual disability
OMIM:220110	TACO1	51204	HP:0000093	Proteinuria
OMIM:220110	TACO1	51204	HP:0001251	Ataxia
OMIM:220110	TACO1	51204	HP:0000648	Optic atrophy
OMIM:220110	TACO1	51204	HP:0001263	Global developmental delay
OMIM:220110	TACO1	51204	HP:0001250	Seizures
OMIM:220110	TACO1	51204	HP:0001508	Failure to thrive
OMIM:220110	TACO1	51204	HP:0003128	Lactic acidosis
OMIM:220110	TACO1	51204	HP:0000508	Ptosis
OMIM:220110	TACO1	51204	HP:0001410	Decreased liver function
OMIM:220110	TACO1	51204	HP:0001270	Motor delay
OMIM:220110	TACO1	51204	HP:0002240	Hepatomegaly
OMIM:220110	TACO1	51204	HP:0002880	Respiratory difficulties
OMIM:220110	TACO1	51204	HP:0001252	Muscular hypotonia
OMIM:220110	TACO1	51204	HP:0000407	Sensorineural hearing impairment
OMIM:220110	TACO1	51204	HP:0002151	Increased serum lactate
OMIM:220110	TACO1	51204	HP:0001427	Mitochondrial inheritance
OMIM:220110	TACO1	51204	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	TACO1	51204	HP:0003355	Aminoaciduria
OMIM:220110	TACO1	51204	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	TACO1	51204	HP:0000007	Autosomal recessive inheritance
OMIM:220110	TACO1	51204	HP:0000580	Pigmentary retinopathy
OMIM:220110	TACO1	51204	HP:0002490	Increased CSF lactate
OMIM:220110	TACO1	51204	HP:0003546	Exercise intolerance
OMIM:220110	TACO1	51204	HP:0001903	Anemia
OMIM:220110	COX20	116228	HP:0001249	Intellectual disability
OMIM:220110	COX20	116228	HP:0000093	Proteinuria
OMIM:220110	COX20	116228	HP:0001251	Ataxia
OMIM:220110	COX20	116228	HP:0000648	Optic atrophy
OMIM:220110	COX20	116228	HP:0001263	Global developmental delay
OMIM:220110	COX20	116228	HP:0001250	Seizures
OMIM:220110	COX20	116228	HP:0001508	Failure to thrive
OMIM:220110	COX20	116228	HP:0003128	Lactic acidosis
OMIM:220110	COX20	116228	HP:0000508	Ptosis
OMIM:220110	COX20	116228	HP:0001410	Decreased liver function
OMIM:220110	COX20	116228	HP:0001270	Motor delay
OMIM:220110	COX20	116228	HP:0002240	Hepatomegaly
OMIM:220110	COX20	116228	HP:0002880	Respiratory difficulties
OMIM:220110	COX20	116228	HP:0001252	Muscular hypotonia
OMIM:220110	COX20	116228	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COX20	116228	HP:0002151	Increased serum lactate
OMIM:220110	COX20	116228	HP:0001427	Mitochondrial inheritance
OMIM:220110	COX20	116228	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COX20	116228	HP:0003355	Aminoaciduria
OMIM:220110	COX20	116228	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COX20	116228	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COX20	116228	HP:0000580	Pigmentary retinopathy
OMIM:220110	COX20	116228	HP:0002490	Increased CSF lactate
OMIM:220110	COX20	116228	HP:0003546	Exercise intolerance
OMIM:220110	COX20	116228	HP:0001903	Anemia
OMIM:220110	SCO1	6341	HP:0001249	Intellectual disability
OMIM:220110	SCO1	6341	HP:0000093	Proteinuria
OMIM:220110	SCO1	6341	HP:0001251	Ataxia
OMIM:220110	SCO1	6341	HP:0000648	Optic atrophy
OMIM:220110	SCO1	6341	HP:0001263	Global developmental delay
OMIM:220110	SCO1	6341	HP:0001250	Seizures
OMIM:220110	SCO1	6341	HP:0001508	Failure to thrive
OMIM:220110	SCO1	6341	HP:0003128	Lactic acidosis
OMIM:220110	SCO1	6341	HP:0000508	Ptosis
OMIM:220110	SCO1	6341	HP:0001410	Decreased liver function
OMIM:220110	SCO1	6341	HP:0001270	Motor delay
OMIM:220110	SCO1	6341	HP:0002240	Hepatomegaly
OMIM:220110	SCO1	6341	HP:0002880	Respiratory difficulties
OMIM:220110	SCO1	6341	HP:0001252	Muscular hypotonia
OMIM:220110	SCO1	6341	HP:0000407	Sensorineural hearing impairment
OMIM:220110	SCO1	6341	HP:0002151	Increased serum lactate
OMIM:220110	SCO1	6341	HP:0001427	Mitochondrial inheritance
OMIM:220110	SCO1	6341	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	SCO1	6341	HP:0003355	Aminoaciduria
OMIM:220110	SCO1	6341	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	SCO1	6341	HP:0000007	Autosomal recessive inheritance
OMIM:220110	SCO1	6341	HP:0000580	Pigmentary retinopathy
OMIM:220110	SCO1	6341	HP:0002490	Increased CSF lactate
OMIM:220110	SCO1	6341	HP:0003546	Exercise intolerance
OMIM:220110	SCO1	6341	HP:0001903	Anemia
OMIM:220110	COX10	1352	HP:0001249	Intellectual disability
OMIM:220110	COX10	1352	HP:0000093	Proteinuria
OMIM:220110	COX10	1352	HP:0001251	Ataxia
OMIM:220110	COX10	1352	HP:0000648	Optic atrophy
OMIM:220110	COX10	1352	HP:0001263	Global developmental delay
OMIM:220110	COX10	1352	HP:0001250	Seizures
OMIM:220110	COX10	1352	HP:0001508	Failure to thrive
OMIM:220110	COX10	1352	HP:0003128	Lactic acidosis
OMIM:220110	COX10	1352	HP:0000508	Ptosis
OMIM:220110	COX10	1352	HP:0001410	Decreased liver function
OMIM:220110	COX10	1352	HP:0001270	Motor delay
OMIM:220110	COX10	1352	HP:0002240	Hepatomegaly
OMIM:220110	COX10	1352	HP:0002880	Respiratory difficulties
OMIM:220110	COX10	1352	HP:0001252	Muscular hypotonia
OMIM:220110	COX10	1352	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COX10	1352	HP:0002151	Increased serum lactate
OMIM:220110	COX10	1352	HP:0001427	Mitochondrial inheritance
OMIM:220110	COX10	1352	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COX10	1352	HP:0003355	Aminoaciduria
OMIM:220110	COX10	1352	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COX10	1352	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COX10	1352	HP:0000580	Pigmentary retinopathy
OMIM:220110	COX10	1352	HP:0002490	Increased CSF lactate
OMIM:220110	COX10	1352	HP:0003546	Exercise intolerance
OMIM:220110	COX10	1352	HP:0001903	Anemia
OMIM:220110	PET100	100131801	HP:0001249	Intellectual disability
OMIM:220110	PET100	100131801	HP:0000093	Proteinuria
OMIM:220110	PET100	100131801	HP:0001251	Ataxia
OMIM:220110	PET100	100131801	HP:0000648	Optic atrophy
OMIM:220110	PET100	100131801	HP:0001263	Global developmental delay
OMIM:220110	PET100	100131801	HP:0001250	Seizures
OMIM:220110	PET100	100131801	HP:0001508	Failure to thrive
OMIM:220110	PET100	100131801	HP:0003128	Lactic acidosis
OMIM:220110	PET100	100131801	HP:0000508	Ptosis
OMIM:220110	PET100	100131801	HP:0001410	Decreased liver function
OMIM:220110	PET100	100131801	HP:0001270	Motor delay
OMIM:220110	PET100	100131801	HP:0002240	Hepatomegaly
OMIM:220110	PET100	100131801	HP:0002880	Respiratory difficulties
OMIM:220110	PET100	100131801	HP:0001252	Muscular hypotonia
OMIM:220110	PET100	100131801	HP:0000407	Sensorineural hearing impairment
OMIM:220110	PET100	100131801	HP:0002151	Increased serum lactate
OMIM:220110	PET100	100131801	HP:0001427	Mitochondrial inheritance
OMIM:220110	PET100	100131801	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	PET100	100131801	HP:0003355	Aminoaciduria
OMIM:220110	PET100	100131801	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	PET100	100131801	HP:0000007	Autosomal recessive inheritance
OMIM:220110	PET100	100131801	HP:0000580	Pigmentary retinopathy
OMIM:220110	PET100	100131801	HP:0002490	Increased CSF lactate
OMIM:220110	PET100	100131801	HP:0003546	Exercise intolerance
OMIM:220110	PET100	100131801	HP:0001903	Anemia
OMIM:220110	APOPT1	84334	HP:0001249	Intellectual disability
OMIM:220110	APOPT1	84334	HP:0000093	Proteinuria
OMIM:220110	APOPT1	84334	HP:0001251	Ataxia
OMIM:220110	APOPT1	84334	HP:0000648	Optic atrophy
OMIM:220110	APOPT1	84334	HP:0001263	Global developmental delay
OMIM:220110	APOPT1	84334	HP:0001250	Seizures
OMIM:220110	APOPT1	84334	HP:0001508	Failure to thrive
OMIM:220110	APOPT1	84334	HP:0003128	Lactic acidosis
OMIM:220110	APOPT1	84334	HP:0000508	Ptosis
OMIM:220110	APOPT1	84334	HP:0001410	Decreased liver function
OMIM:220110	APOPT1	84334	HP:0001270	Motor delay
OMIM:220110	APOPT1	84334	HP:0002240	Hepatomegaly
OMIM:220110	APOPT1	84334	HP:0002880	Respiratory difficulties
OMIM:220110	APOPT1	84334	HP:0001252	Muscular hypotonia
OMIM:220110	APOPT1	84334	HP:0000407	Sensorineural hearing impairment
OMIM:220110	APOPT1	84334	HP:0002151	Increased serum lactate
OMIM:220110	APOPT1	84334	HP:0001427	Mitochondrial inheritance
OMIM:220110	APOPT1	84334	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	APOPT1	84334	HP:0003355	Aminoaciduria
OMIM:220110	APOPT1	84334	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	APOPT1	84334	HP:0000007	Autosomal recessive inheritance
OMIM:220110	APOPT1	84334	HP:0000580	Pigmentary retinopathy
OMIM:220110	APOPT1	84334	HP:0002490	Increased CSF lactate
OMIM:220110	APOPT1	84334	HP:0003546	Exercise intolerance
OMIM:220110	APOPT1	84334	HP:0001903	Anemia
OMIM:220110	FASTKD2	22868	HP:0001249	Intellectual disability
OMIM:220110	FASTKD2	22868	HP:0000093	Proteinuria
OMIM:220110	FASTKD2	22868	HP:0001251	Ataxia
OMIM:220110	FASTKD2	22868	HP:0000648	Optic atrophy
OMIM:220110	FASTKD2	22868	HP:0001263	Global developmental delay
OMIM:220110	FASTKD2	22868	HP:0001250	Seizures
OMIM:220110	FASTKD2	22868	HP:0001508	Failure to thrive
OMIM:220110	FASTKD2	22868	HP:0003128	Lactic acidosis
OMIM:220110	FASTKD2	22868	HP:0000508	Ptosis
OMIM:220110	FASTKD2	22868	HP:0001410	Decreased liver function
OMIM:220110	FASTKD2	22868	HP:0001270	Motor delay
OMIM:220110	FASTKD2	22868	HP:0002240	Hepatomegaly
OMIM:220110	FASTKD2	22868	HP:0002880	Respiratory difficulties
OMIM:220110	FASTKD2	22868	HP:0001252	Muscular hypotonia
OMIM:220110	FASTKD2	22868	HP:0000407	Sensorineural hearing impairment
OMIM:220110	FASTKD2	22868	HP:0002151	Increased serum lactate
OMIM:220110	FASTKD2	22868	HP:0001427	Mitochondrial inheritance
OMIM:220110	FASTKD2	22868	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	FASTKD2	22868	HP:0003355	Aminoaciduria
OMIM:220110	FASTKD2	22868	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	FASTKD2	22868	HP:0000007	Autosomal recessive inheritance
OMIM:220110	FASTKD2	22868	HP:0000580	Pigmentary retinopathy
OMIM:220110	FASTKD2	22868	HP:0002490	Increased CSF lactate
OMIM:220110	FASTKD2	22868	HP:0003546	Exercise intolerance
OMIM:220110	FASTKD2	22868	HP:0001903	Anemia
OMIM:220110	COX14	84987	HP:0001249	Intellectual disability
OMIM:220110	COX14	84987	HP:0000093	Proteinuria
OMIM:220110	COX14	84987	HP:0001251	Ataxia
OMIM:220110	COX14	84987	HP:0000648	Optic atrophy
OMIM:220110	COX14	84987	HP:0001263	Global developmental delay
OMIM:220110	COX14	84987	HP:0001250	Seizures
OMIM:220110	COX14	84987	HP:0001508	Failure to thrive
OMIM:220110	COX14	84987	HP:0003128	Lactic acidosis
OMIM:220110	COX14	84987	HP:0000508	Ptosis
OMIM:220110	COX14	84987	HP:0001410	Decreased liver function
OMIM:220110	COX14	84987	HP:0001270	Motor delay
OMIM:220110	COX14	84987	HP:0002240	Hepatomegaly
OMIM:220110	COX14	84987	HP:0002880	Respiratory difficulties
OMIM:220110	COX14	84987	HP:0001252	Muscular hypotonia
OMIM:220110	COX14	84987	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COX14	84987	HP:0002151	Increased serum lactate
OMIM:220110	COX14	84987	HP:0001427	Mitochondrial inheritance
OMIM:220110	COX14	84987	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COX14	84987	HP:0003355	Aminoaciduria
OMIM:220110	COX14	84987	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COX14	84987	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COX14	84987	HP:0000580	Pigmentary retinopathy
OMIM:220110	COX14	84987	HP:0002490	Increased CSF lactate
OMIM:220110	COX14	84987	HP:0003546	Exercise intolerance
OMIM:220110	COX14	84987	HP:0001903	Anemia
OMIM:220110	COX6B1	1340	HP:0001249	Intellectual disability
OMIM:220110	COX6B1	1340	HP:0000093	Proteinuria
OMIM:220110	COX6B1	1340	HP:0001251	Ataxia
OMIM:220110	COX6B1	1340	HP:0000648	Optic atrophy
OMIM:220110	COX6B1	1340	HP:0001263	Global developmental delay
OMIM:220110	COX6B1	1340	HP:0001250	Seizures
OMIM:220110	COX6B1	1340	HP:0001508	Failure to thrive
OMIM:220110	COX6B1	1340	HP:0003128	Lactic acidosis
OMIM:220110	COX6B1	1340	HP:0000508	Ptosis
OMIM:220110	COX6B1	1340	HP:0001410	Decreased liver function
OMIM:220110	COX6B1	1340	HP:0001270	Motor delay
OMIM:220110	COX6B1	1340	HP:0002240	Hepatomegaly
OMIM:220110	COX6B1	1340	HP:0002880	Respiratory difficulties
OMIM:220110	COX6B1	1340	HP:0001252	Muscular hypotonia
OMIM:220110	COX6B1	1340	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COX6B1	1340	HP:0002151	Increased serum lactate
OMIM:220110	COX6B1	1340	HP:0001427	Mitochondrial inheritance
OMIM:220110	COX6B1	1340	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COX6B1	1340	HP:0003355	Aminoaciduria
OMIM:220110	COX6B1	1340	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COX6B1	1340	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COX6B1	1340	HP:0000580	Pigmentary retinopathy
OMIM:220110	COX6B1	1340	HP:0002490	Increased CSF lactate
OMIM:220110	COX6B1	1340	HP:0003546	Exercise intolerance
OMIM:220110	COX6B1	1340	HP:0001903	Anemia
OMIM:220110	COA3	28958	HP:0001249	Intellectual disability
OMIM:220110	COA3	28958	HP:0000093	Proteinuria
OMIM:220110	COA3	28958	HP:0001251	Ataxia
OMIM:220110	COA3	28958	HP:0000648	Optic atrophy
OMIM:220110	COA3	28958	HP:0001263	Global developmental delay
OMIM:220110	COA3	28958	HP:0001250	Seizures
OMIM:220110	COA3	28958	HP:0001508	Failure to thrive
OMIM:220110	COA3	28958	HP:0003128	Lactic acidosis
OMIM:220110	COA3	28958	HP:0000508	Ptosis
OMIM:220110	COA3	28958	HP:0001410	Decreased liver function
OMIM:220110	COA3	28958	HP:0001270	Motor delay
OMIM:220110	COA3	28958	HP:0002240	Hepatomegaly
OMIM:220110	COA3	28958	HP:0002880	Respiratory difficulties
OMIM:220110	COA3	28958	HP:0001252	Muscular hypotonia
OMIM:220110	COA3	28958	HP:0000407	Sensorineural hearing impairment
OMIM:220110	COA3	28958	HP:0002151	Increased serum lactate
OMIM:220110	COA3	28958	HP:0001427	Mitochondrial inheritance
OMIM:220110	COA3	28958	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:220110	COA3	28958	HP:0003355	Aminoaciduria
OMIM:220110	COA3	28958	HP:0001639	Hypertrophic cardiomyopathy
OMIM:220110	COA3	28958	HP:0000007	Autosomal recessive inheritance
OMIM:220110	COA3	28958	HP:0000580	Pigmentary retinopathy
OMIM:220110	COA3	28958	HP:0002490	Increased CSF lactate
OMIM:220110	COA3	28958	HP:0003546	Exercise intolerance
OMIM:220110	COA3	28958	HP:0001903	Anemia
OMIM:616280	MARS	4141	HP:0003376	Steppage gait
OMIM:616280	MARS	4141	HP:0009027	Foot dorsiflexor weakness
OMIM:616280	MARS	4141	HP:0001284	Areflexia
OMIM:616280	MARS	4141	HP:0003477	Peripheral axonal neuropathy
OMIM:616280	MARS	4141	HP:0002936	Distal sensory impairment
OMIM:615510	GMPPA	29926	HP:0001611	Nasal speech
OMIM:615510	GMPPA	29926	HP:0002015	Dysphagia
OMIM:615510	GMPPA	29926	HP:0000639	Nystagmus
OMIM:615510	GMPPA	29926	HP:0000365	Hearing impairment
OMIM:615510	GMPPA	29926	HP:0000966	Hypohidrosis
OMIM:615510	GMPPA	29926	HP:0000962	Hyperkeratosis
OMIM:615510	GMPPA	29926	HP:0001249	Intellectual disability
OMIM:615510	GMPPA	29926	HP:0001263	Global developmental delay
OMIM:615510	GMPPA	29926	HP:0001252	Muscular hypotonia
OMIM:615510	GMPPA	29926	HP:0002571	Achalasia
OMIM:615510	GMPPA	29926	HP:0001288	Gait disturbance
OMIM:615510	GMPPA	29926	HP:0000007	Autosomal recessive inheritance
OMIM:615510	GMPPA	29926	HP:0000486	Strabismus
OMIM:615510	GMPPA	29926	HP:0003474	Sensory impairment
OMIM:615510	GMPPA	29926	HP:0011968	Feeding difficulties
OMIM:615510	AAAS	8086	HP:0001611	Nasal speech
OMIM:615510	AAAS	8086	HP:0002015	Dysphagia
OMIM:615510	AAAS	8086	HP:0000639	Nystagmus
OMIM:615510	AAAS	8086	HP:0000365	Hearing impairment
OMIM:615510	AAAS	8086	HP:0000966	Hypohidrosis
OMIM:615510	AAAS	8086	HP:0000962	Hyperkeratosis
OMIM:615510	AAAS	8086	HP:0001249	Intellectual disability
OMIM:615510	AAAS	8086	HP:0001263	Global developmental delay
OMIM:615510	AAAS	8086	HP:0001252	Muscular hypotonia
OMIM:615510	AAAS	8086	HP:0002571	Achalasia
OMIM:615510	AAAS	8086	HP:0001288	Gait disturbance
OMIM:615510	AAAS	8086	HP:0000007	Autosomal recessive inheritance
OMIM:615510	AAAS	8086	HP:0000486	Strabismus
OMIM:615510	AAAS	8086	HP:0003474	Sensory impairment
OMIM:615510	AAAS	8086	HP:0011968	Feeding difficulties
OMIM:615607	CD3G	917	HP:0000007	Autosomal recessive inheritance
OMIM:615607	CD3G	917	HP:0001508	Failure to thrive
OMIM:615607	CD3G	917	HP:0002721	Immunodeficiency
OMIM:615607	CD3G	917	HP:0002205	Recurrent respiratory infections
OMIM:615607	CD3G	917	HP:0002242	Abnormality of the intestine
OMIM:615607	CD3G	917	HP:0003828	Variable expressivity
OMIM:615607	CD3G	917	HP:0000964	Eczema
ORPHANET:772	PEX19	5824	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX19	5824	HP:0004322	Short stature
ORPHANET:772	PEX19	5824	HP:0010628	Facial palsy
ORPHANET:772	PEX19	5824	HP:0000662	Nyctalopia
ORPHANET:772	PEX19	5824	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX19	5824	HP:0002240	Hepatomegaly
ORPHANET:772	PEX19	5824	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX19	5824	HP:0000639	Nystagmus
ORPHANET:772	PEX19	5824	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX19	5824	HP:0001250	Seizures
ORPHANET:772	PEX19	5824	HP:0011675	Arrhythmia
ORPHANET:772	PEX19	5824	HP:0100543	Cognitive impairment
ORPHANET:772	PEX19	5824	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX19	5824	HP:0002311	Incoordination
ORPHANET:772	PEX19	5824	HP:0000518	Cataract
ORPHANET:772	PEX19	5824	HP:0000505	Visual impairment
ORPHANET:772	PEX19	5824	HP:0000648	Optic atrophy
ORPHANET:772	PEX19	5824	HP:0001276	Hypertonia
ORPHANET:772	PEX19	5824	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX19	5824	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX19	5824	HP:0008064	Ichthyosis
ORPHANET:772	PEX19	5824	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX16	9409	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX16	9409	HP:0004322	Short stature
ORPHANET:772	PEX16	9409	HP:0010628	Facial palsy
ORPHANET:772	PEX16	9409	HP:0000662	Nyctalopia
ORPHANET:772	PEX16	9409	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX16	9409	HP:0002240	Hepatomegaly
ORPHANET:772	PEX16	9409	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX16	9409	HP:0000639	Nystagmus
ORPHANET:772	PEX16	9409	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX16	9409	HP:0001250	Seizures
ORPHANET:772	PEX16	9409	HP:0011675	Arrhythmia
ORPHANET:772	PEX16	9409	HP:0100543	Cognitive impairment
ORPHANET:772	PEX16	9409	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX16	9409	HP:0002311	Incoordination
ORPHANET:772	PEX16	9409	HP:0000518	Cataract
ORPHANET:772	PEX16	9409	HP:0000505	Visual impairment
ORPHANET:772	PEX16	9409	HP:0000648	Optic atrophy
ORPHANET:772	PEX16	9409	HP:0001276	Hypertonia
ORPHANET:772	PEX16	9409	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX16	9409	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX16	9409	HP:0008064	Ichthyosis
ORPHANET:772	PEX16	9409	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX2	5828	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX2	5828	HP:0004322	Short stature
ORPHANET:772	PEX2	5828	HP:0010628	Facial palsy
ORPHANET:772	PEX2	5828	HP:0000662	Nyctalopia
ORPHANET:772	PEX2	5828	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX2	5828	HP:0002240	Hepatomegaly
ORPHANET:772	PEX2	5828	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX2	5828	HP:0000639	Nystagmus
ORPHANET:772	PEX2	5828	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX2	5828	HP:0001250	Seizures
ORPHANET:772	PEX2	5828	HP:0011675	Arrhythmia
ORPHANET:772	PEX2	5828	HP:0100543	Cognitive impairment
ORPHANET:772	PEX2	5828	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX2	5828	HP:0002311	Incoordination
ORPHANET:772	PEX2	5828	HP:0000518	Cataract
ORPHANET:772	PEX2	5828	HP:0000505	Visual impairment
ORPHANET:772	PEX2	5828	HP:0000648	Optic atrophy
ORPHANET:772	PEX2	5828	HP:0001276	Hypertonia
ORPHANET:772	PEX2	5828	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX2	5828	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX2	5828	HP:0008064	Ichthyosis
ORPHANET:772	PEX2	5828	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX1	5189	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX1	5189	HP:0004322	Short stature
ORPHANET:772	PEX1	5189	HP:0010628	Facial palsy
ORPHANET:772	PEX1	5189	HP:0000662	Nyctalopia
ORPHANET:772	PEX1	5189	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX1	5189	HP:0002240	Hepatomegaly
ORPHANET:772	PEX1	5189	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX1	5189	HP:0000639	Nystagmus
ORPHANET:772	PEX1	5189	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX1	5189	HP:0001250	Seizures
ORPHANET:772	PEX1	5189	HP:0011675	Arrhythmia
ORPHANET:772	PEX1	5189	HP:0100543	Cognitive impairment
ORPHANET:772	PEX1	5189	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX1	5189	HP:0002311	Incoordination
ORPHANET:772	PEX1	5189	HP:0000518	Cataract
ORPHANET:772	PEX1	5189	HP:0000505	Visual impairment
ORPHANET:772	PEX1	5189	HP:0000648	Optic atrophy
ORPHANET:772	PEX1	5189	HP:0001276	Hypertonia
ORPHANET:772	PEX1	5189	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX1	5189	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX1	5189	HP:0008064	Ichthyosis
ORPHANET:772	PEX1	5189	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX5	5830	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX5	5830	HP:0004322	Short stature
ORPHANET:772	PEX5	5830	HP:0010628	Facial palsy
ORPHANET:772	PEX5	5830	HP:0000662	Nyctalopia
ORPHANET:772	PEX5	5830	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX5	5830	HP:0002240	Hepatomegaly
ORPHANET:772	PEX5	5830	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX5	5830	HP:0000639	Nystagmus
ORPHANET:772	PEX5	5830	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX5	5830	HP:0001250	Seizures
ORPHANET:772	PEX5	5830	HP:0011675	Arrhythmia
ORPHANET:772	PEX5	5830	HP:0100543	Cognitive impairment
ORPHANET:772	PEX5	5830	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX5	5830	HP:0002311	Incoordination
ORPHANET:772	PEX5	5830	HP:0000518	Cataract
ORPHANET:772	PEX5	5830	HP:0000505	Visual impairment
ORPHANET:772	PEX5	5830	HP:0000648	Optic atrophy
ORPHANET:772	PEX5	5830	HP:0001276	Hypertonia
ORPHANET:772	PEX5	5830	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX5	5830	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX5	5830	HP:0008064	Ichthyosis
ORPHANET:772	PEX5	5830	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX6	5190	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX6	5190	HP:0004322	Short stature
ORPHANET:772	PEX6	5190	HP:0010628	Facial palsy
ORPHANET:772	PEX6	5190	HP:0000662	Nyctalopia
ORPHANET:772	PEX6	5190	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX6	5190	HP:0002240	Hepatomegaly
ORPHANET:772	PEX6	5190	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX6	5190	HP:0000639	Nystagmus
ORPHANET:772	PEX6	5190	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX6	5190	HP:0001250	Seizures
ORPHANET:772	PEX6	5190	HP:0011675	Arrhythmia
ORPHANET:772	PEX6	5190	HP:0100543	Cognitive impairment
ORPHANET:772	PEX6	5190	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX6	5190	HP:0002311	Incoordination
ORPHANET:772	PEX6	5190	HP:0000518	Cataract
ORPHANET:772	PEX6	5190	HP:0000505	Visual impairment
ORPHANET:772	PEX6	5190	HP:0000648	Optic atrophy
ORPHANET:772	PEX6	5190	HP:0001276	Hypertonia
ORPHANET:772	PEX6	5190	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX6	5190	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX6	5190	HP:0008064	Ichthyosis
ORPHANET:772	PEX6	5190	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX10	5192	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX10	5192	HP:0004322	Short stature
ORPHANET:772	PEX10	5192	HP:0010628	Facial palsy
ORPHANET:772	PEX10	5192	HP:0000662	Nyctalopia
ORPHANET:772	PEX10	5192	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX10	5192	HP:0002240	Hepatomegaly
ORPHANET:772	PEX10	5192	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX10	5192	HP:0000639	Nystagmus
ORPHANET:772	PEX10	5192	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX10	5192	HP:0001250	Seizures
ORPHANET:772	PEX10	5192	HP:0011675	Arrhythmia
ORPHANET:772	PEX10	5192	HP:0100543	Cognitive impairment
ORPHANET:772	PEX10	5192	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX10	5192	HP:0002311	Incoordination
ORPHANET:772	PEX10	5192	HP:0000518	Cataract
ORPHANET:772	PEX10	5192	HP:0000505	Visual impairment
ORPHANET:772	PEX10	5192	HP:0000648	Optic atrophy
ORPHANET:772	PEX10	5192	HP:0001276	Hypertonia
ORPHANET:772	PEX10	5192	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX10	5192	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX10	5192	HP:0008064	Ichthyosis
ORPHANET:772	PEX10	5192	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX12	5193	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX12	5193	HP:0004322	Short stature
ORPHANET:772	PEX12	5193	HP:0010628	Facial palsy
ORPHANET:772	PEX12	5193	HP:0000662	Nyctalopia
ORPHANET:772	PEX12	5193	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX12	5193	HP:0002240	Hepatomegaly
ORPHANET:772	PEX12	5193	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX12	5193	HP:0000639	Nystagmus
ORPHANET:772	PEX12	5193	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX12	5193	HP:0001250	Seizures
ORPHANET:772	PEX12	5193	HP:0011675	Arrhythmia
ORPHANET:772	PEX12	5193	HP:0100543	Cognitive impairment
ORPHANET:772	PEX12	5193	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX12	5193	HP:0002311	Incoordination
ORPHANET:772	PEX12	5193	HP:0000518	Cataract
ORPHANET:772	PEX12	5193	HP:0000505	Visual impairment
ORPHANET:772	PEX12	5193	HP:0000648	Optic atrophy
ORPHANET:772	PEX12	5193	HP:0001276	Hypertonia
ORPHANET:772	PEX12	5193	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX12	5193	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX12	5193	HP:0008064	Ichthyosis
ORPHANET:772	PEX12	5193	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX13	5194	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX13	5194	HP:0004322	Short stature
ORPHANET:772	PEX13	5194	HP:0010628	Facial palsy
ORPHANET:772	PEX13	5194	HP:0000662	Nyctalopia
ORPHANET:772	PEX13	5194	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX13	5194	HP:0002240	Hepatomegaly
ORPHANET:772	PEX13	5194	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX13	5194	HP:0000639	Nystagmus
ORPHANET:772	PEX13	5194	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX13	5194	HP:0001250	Seizures
ORPHANET:772	PEX13	5194	HP:0011675	Arrhythmia
ORPHANET:772	PEX13	5194	HP:0100543	Cognitive impairment
ORPHANET:772	PEX13	5194	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX13	5194	HP:0002311	Incoordination
ORPHANET:772	PEX13	5194	HP:0000518	Cataract
ORPHANET:772	PEX13	5194	HP:0000505	Visual impairment
ORPHANET:772	PEX13	5194	HP:0000648	Optic atrophy
ORPHANET:772	PEX13	5194	HP:0001276	Hypertonia
ORPHANET:772	PEX13	5194	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX13	5194	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX13	5194	HP:0008064	Ichthyosis
ORPHANET:772	PEX13	5194	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX14	5195	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX14	5195	HP:0004322	Short stature
ORPHANET:772	PEX14	5195	HP:0010628	Facial palsy
ORPHANET:772	PEX14	5195	HP:0000662	Nyctalopia
ORPHANET:772	PEX14	5195	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX14	5195	HP:0002240	Hepatomegaly
ORPHANET:772	PEX14	5195	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX14	5195	HP:0000639	Nystagmus
ORPHANET:772	PEX14	5195	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX14	5195	HP:0001250	Seizures
ORPHANET:772	PEX14	5195	HP:0011675	Arrhythmia
ORPHANET:772	PEX14	5195	HP:0100543	Cognitive impairment
ORPHANET:772	PEX14	5195	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX14	5195	HP:0002311	Incoordination
ORPHANET:772	PEX14	5195	HP:0000518	Cataract
ORPHANET:772	PEX14	5195	HP:0000505	Visual impairment
ORPHANET:772	PEX14	5195	HP:0000648	Optic atrophy
ORPHANET:772	PEX14	5195	HP:0001276	Hypertonia
ORPHANET:772	PEX14	5195	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX14	5195	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX14	5195	HP:0008064	Ichthyosis
ORPHANET:772	PEX14	5195	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX26	55670	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX26	55670	HP:0004322	Short stature
ORPHANET:772	PEX26	55670	HP:0010628	Facial palsy
ORPHANET:772	PEX26	55670	HP:0000662	Nyctalopia
ORPHANET:772	PEX26	55670	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX26	55670	HP:0002240	Hepatomegaly
ORPHANET:772	PEX26	55670	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX26	55670	HP:0000639	Nystagmus
ORPHANET:772	PEX26	55670	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX26	55670	HP:0001250	Seizures
ORPHANET:772	PEX26	55670	HP:0011675	Arrhythmia
ORPHANET:772	PEX26	55670	HP:0100543	Cognitive impairment
ORPHANET:772	PEX26	55670	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX26	55670	HP:0002311	Incoordination
ORPHANET:772	PEX26	55670	HP:0000518	Cataract
ORPHANET:772	PEX26	55670	HP:0000505	Visual impairment
ORPHANET:772	PEX26	55670	HP:0000648	Optic atrophy
ORPHANET:772	PEX26	55670	HP:0001276	Hypertonia
ORPHANET:772	PEX26	55670	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX26	55670	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX26	55670	HP:0008064	Ichthyosis
ORPHANET:772	PEX26	55670	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX3	8504	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX3	8504	HP:0004322	Short stature
ORPHANET:772	PEX3	8504	HP:0010628	Facial palsy
ORPHANET:772	PEX3	8504	HP:0000662	Nyctalopia
ORPHANET:772	PEX3	8504	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX3	8504	HP:0002240	Hepatomegaly
ORPHANET:772	PEX3	8504	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX3	8504	HP:0000639	Nystagmus
ORPHANET:772	PEX3	8504	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX3	8504	HP:0001250	Seizures
ORPHANET:772	PEX3	8504	HP:0011675	Arrhythmia
ORPHANET:772	PEX3	8504	HP:0100543	Cognitive impairment
ORPHANET:772	PEX3	8504	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX3	8504	HP:0002311	Incoordination
ORPHANET:772	PEX3	8504	HP:0000518	Cataract
ORPHANET:772	PEX3	8504	HP:0000505	Visual impairment
ORPHANET:772	PEX3	8504	HP:0000648	Optic atrophy
ORPHANET:772	PEX3	8504	HP:0001276	Hypertonia
ORPHANET:772	PEX3	8504	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX3	8504	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX3	8504	HP:0008064	Ichthyosis
ORPHANET:772	PEX3	8504	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:772	PEX11B	8799	HP:0001252	Muscular hypotonia
ORPHANET:772	PEX11B	8799	HP:0004322	Short stature
ORPHANET:772	PEX11B	8799	HP:0010628	Facial palsy
ORPHANET:772	PEX11B	8799	HP:0000662	Nyctalopia
ORPHANET:772	PEX11B	8799	HP:0000708	Behavioral abnormality
ORPHANET:772	PEX11B	8799	HP:0002240	Hepatomegaly
ORPHANET:772	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
ORPHANET:772	PEX11B	8799	HP:0000639	Nystagmus
ORPHANET:772	PEX11B	8799	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:772	PEX11B	8799	HP:0001250	Seizures
ORPHANET:772	PEX11B	8799	HP:0011675	Arrhythmia
ORPHANET:772	PEX11B	8799	HP:0100543	Cognitive impairment
ORPHANET:772	PEX11B	8799	HP:0003202	Skeletal muscle atrophy
ORPHANET:772	PEX11B	8799	HP:0002311	Incoordination
ORPHANET:772	PEX11B	8799	HP:0000518	Cataract
ORPHANET:772	PEX11B	8799	HP:0000505	Visual impairment
ORPHANET:772	PEX11B	8799	HP:0000648	Optic atrophy
ORPHANET:772	PEX11B	8799	HP:0001276	Hypertonia
ORPHANET:772	PEX11B	8799	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:772	PEX11B	8799	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:772	PEX11B	8799	HP:0008064	Ichthyosis
ORPHANET:772	PEX11B	8799	HP:0007703	Abnormality of retinal pigmentation
OMIM:616291	SLC9A1	6548	HP:0001260	Dysarthria
OMIM:616291	SLC9A1	6548	HP:0001270	Motor delay
OMIM:616291	SLC9A1	6548	HP:0002066	Gait ataxia
OMIM:616291	SLC9A1	6548	HP:0001272	Cerebellar atrophy
OMIM:616291	SLC9A1	6548	HP:0002075	Dysdiadochokinesis
OMIM:616291	SLC9A1	6548	HP:0000639	Nystagmus
OMIM:616291	SLC9A1	6548	HP:0002070	Limb ataxia
OMIM:616291	SLC9A1	6548	HP:0004322	Short stature
OMIM:616291	SLC9A1	6548	HP:0001310	Dysmetria
OMIM:615779	NR2F2	7026	HP:0004383	Hypoplastic left heart
OMIM:615779	NR2F2	7026	HP:0001680	Coarctation of aorta
OMIM:615779	NR2F2	7026	HP:0001629	Ventricular septal defect
OMIM:615779	NR2F2	7026	HP:0001650	Aortic valve stenosis
OMIM:615779	NR2F2	7026	HP:0001636	Tetralogy of Fallot
OMIM:615779	NR2F2	7026	HP:0006695	Atrioventricular canal defect
OMIM:129600	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:129600	FBN1	2200	HP:0001083	Ectopia lentis
OMIM:129600	ADAMTSL4	54507	HP:0000006	Autosomal dominant inheritance
OMIM:129600	ADAMTSL4	54507	HP:0001083	Ectopia lentis
OMIM:616553	MPL	4352	HP:0005528	Bone marrow hypocellularity
OMIM:616553	MPL	4352	HP:0000252	Microcephaly
OMIM:616553	MPL	4352	HP:0000164	Abnormality of the teeth
OMIM:616553	MPL	4352	HP:0001915	Aplastic anemia
OMIM:616553	ACD	65057	HP:0005528	Bone marrow hypocellularity
OMIM:616553	ACD	65057	HP:0000252	Microcephaly
OMIM:616553	ACD	65057	HP:0000164	Abnormality of the teeth
OMIM:616553	ACD	65057	HP:0001915	Aplastic anemia
OMIM:616553	PARN	5073	HP:0005528	Bone marrow hypocellularity
OMIM:616553	PARN	5073	HP:0000252	Microcephaly
OMIM:616553	PARN	5073	HP:0000164	Abnormality of the teeth
OMIM:616553	PARN	5073	HP:0001915	Aplastic anemia
OMIM:616553	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:616553	TINF2	26277	HP:0000252	Microcephaly
OMIM:616553	TINF2	26277	HP:0000164	Abnormality of the teeth
OMIM:616553	TINF2	26277	HP:0001915	Aplastic anemia
OMIM:616553	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
OMIM:616553	RTEL1	51750	HP:0000252	Microcephaly
OMIM:616553	RTEL1	51750	HP:0000164	Abnormality of the teeth
OMIM:616553	RTEL1	51750	HP:0001915	Aplastic anemia
OMIM:616553	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:616553	TERT	7015	HP:0000252	Microcephaly
OMIM:616553	TERT	7015	HP:0000164	Abnormality of the teeth
OMIM:616553	TERT	7015	HP:0001915	Aplastic anemia
OMIM:616553	DKC1	1736	HP:0005528	Bone marrow hypocellularity
OMIM:616553	DKC1	1736	HP:0000252	Microcephaly
OMIM:616553	DKC1	1736	HP:0000164	Abnormality of the teeth
OMIM:616553	DKC1	1736	HP:0001915	Aplastic anemia
OMIM:616553	THPO	7066	HP:0005528	Bone marrow hypocellularity
OMIM:616553	THPO	7066	HP:0000252	Microcephaly
OMIM:616553	THPO	7066	HP:0000164	Abnormality of the teeth
OMIM:616553	THPO	7066	HP:0001915	Aplastic anemia
OMIM:616117	TNNI3K	51086	HP:0005110	Atrial fibrillation
OMIM:616117	TNNI3K	51086	HP:0000006	Autosomal dominant inheritance
OMIM:616117	TNNI3K	51086	HP:0001692	Primary atrial arrhythmia
OMIM:616117	TNNI3K	51086	HP:0004749	Atrial flutter
OMIM:616117	TNNI3K	51086	HP:0001635	Congestive heart failure
OMIM:616117	TNNI3K	51086	HP:0001644	Dilated cardiomyopathy
ORPHANET:251510	SRY	6736	HP:0100627	Displacement of the external urethral meatus
ORPHANET:251510	SRY	6736	HP:0000133	Gonadal dysgenesis
ORPHANET:251510	SRY	6736	HP:0008736	Hypoplasia of penis
ORPHANET:251510	SRY	6736	HP:0010458	Female pseudohermaphroditism
ORPHANET:251510	SRY	6736	HP:0010788	Testicular neoplasm
ORPHANET:251510	SRY	6736	HP:0000062	Ambiguous genitalia
ORPHANET:251510	SRY	6736	HP:0008207	Primary adrenal insufficiency
ORPHANET:251510	SRY	6736	HP:0100615	Ovarian neoplasm
ORPHANET:251510	WT1	7490	HP:0100627	Displacement of the external urethral meatus
ORPHANET:251510	WT1	7490	HP:0000133	Gonadal dysgenesis
ORPHANET:251510	WT1	7490	HP:0008736	Hypoplasia of penis
ORPHANET:251510	WT1	7490	HP:0010458	Female pseudohermaphroditism
ORPHANET:251510	WT1	7490	HP:0010788	Testicular neoplasm
ORPHANET:251510	WT1	7490	HP:0000062	Ambiguous genitalia
ORPHANET:251510	WT1	7490	HP:0008207	Primary adrenal insufficiency
ORPHANET:251510	WT1	7490	HP:0100615	Ovarian neoplasm
ORPHANET:251510	GATA4	2626	HP:0100627	Displacement of the external urethral meatus
ORPHANET:251510	GATA4	2626	HP:0000133	Gonadal dysgenesis
ORPHANET:251510	GATA4	2626	HP:0008736	Hypoplasia of penis
ORPHANET:251510	GATA4	2626	HP:0010458	Female pseudohermaphroditism
ORPHANET:251510	GATA4	2626	HP:0010788	Testicular neoplasm
ORPHANET:251510	GATA4	2626	HP:0000062	Ambiguous genitalia
ORPHANET:251510	GATA4	2626	HP:0008207	Primary adrenal insufficiency
ORPHANET:251510	GATA4	2626	HP:0100615	Ovarian neoplasm
ORPHANET:251510	NR5A1	2516	HP:0100627	Displacement of the external urethral meatus
ORPHANET:251510	NR5A1	2516	HP:0000133	Gonadal dysgenesis
ORPHANET:251510	NR5A1	2516	HP:0008736	Hypoplasia of penis
ORPHANET:251510	NR5A1	2516	HP:0010458	Female pseudohermaphroditism
ORPHANET:251510	NR5A1	2516	HP:0010788	Testicular neoplasm
ORPHANET:251510	NR5A1	2516	HP:0000062	Ambiguous genitalia
ORPHANET:251510	NR5A1	2516	HP:0008207	Primary adrenal insufficiency
ORPHANET:251510	NR5A1	2516	HP:0100615	Ovarian neoplasm
ORPHANET:251510	SOX9	6662	HP:0100627	Displacement of the external urethral meatus
ORPHANET:251510	SOX9	6662	HP:0000133	Gonadal dysgenesis
ORPHANET:251510	SOX9	6662	HP:0008736	Hypoplasia of penis
ORPHANET:251510	SOX9	6662	HP:0010458	Female pseudohermaphroditism
ORPHANET:251510	SOX9	6662	HP:0010788	Testicular neoplasm
ORPHANET:251510	SOX9	6662	HP:0000062	Ambiguous genitalia
ORPHANET:251510	SOX9	6662	HP:0008207	Primary adrenal insufficiency
ORPHANET:251510	SOX9	6662	HP:0100615	Ovarian neoplasm
ORPHANET:251510	ZFPM2	23414	HP:0100627	Displacement of the external urethral meatus
ORPHANET:251510	ZFPM2	23414	HP:0000133	Gonadal dysgenesis
ORPHANET:251510	ZFPM2	23414	HP:0008736	Hypoplasia of penis
ORPHANET:251510	ZFPM2	23414	HP:0010458	Female pseudohermaphroditism
ORPHANET:251510	ZFPM2	23414	HP:0010788	Testicular neoplasm
ORPHANET:251510	ZFPM2	23414	HP:0000062	Ambiguous genitalia
ORPHANET:251510	ZFPM2	23414	HP:0008207	Primary adrenal insufficiency
ORPHANET:251510	ZFPM2	23414	HP:0100615	Ovarian neoplasm
ORPHANET:251510	MAP3K1	4214	HP:0100627	Displacement of the external urethral meatus
ORPHANET:251510	MAP3K1	4214	HP:0000133	Gonadal dysgenesis
ORPHANET:251510	MAP3K1	4214	HP:0008736	Hypoplasia of penis
ORPHANET:251510	MAP3K1	4214	HP:0010458	Female pseudohermaphroditism
ORPHANET:251510	MAP3K1	4214	HP:0010788	Testicular neoplasm
ORPHANET:251510	MAP3K1	4214	HP:0000062	Ambiguous genitalia
ORPHANET:251510	MAP3K1	4214	HP:0008207	Primary adrenal insufficiency
ORPHANET:251510	MAP3K1	4214	HP:0100615	Ovarian neoplasm
ORPHANET:251510	WWOX	51741	HP:0100627	Displacement of the external urethral meatus
ORPHANET:251510	WWOX	51741	HP:0000133	Gonadal dysgenesis
ORPHANET:251510	WWOX	51741	HP:0008736	Hypoplasia of penis
ORPHANET:251510	WWOX	51741	HP:0010458	Female pseudohermaphroditism
ORPHANET:251510	WWOX	51741	HP:0010788	Testicular neoplasm
ORPHANET:251510	WWOX	51741	HP:0000062	Ambiguous genitalia
ORPHANET:251510	WWOX	51741	HP:0008207	Primary adrenal insufficiency
ORPHANET:251510	WWOX	51741	HP:0100615	Ovarian neoplasm
ORPHANET:251510	VAMP7	6845	HP:0100627	Displacement of the external urethral meatus
ORPHANET:251510	VAMP7	6845	HP:0000133	Gonadal dysgenesis
ORPHANET:251510	VAMP7	6845	HP:0008736	Hypoplasia of penis
ORPHANET:251510	VAMP7	6845	HP:0010458	Female pseudohermaphroditism
ORPHANET:251510	VAMP7	6845	HP:0010788	Testicular neoplasm
ORPHANET:251510	VAMP7	6845	HP:0000062	Ambiguous genitalia
ORPHANET:251510	VAMP7	6845	HP:0008207	Primary adrenal insufficiency
ORPHANET:251510	VAMP7	6845	HP:0100615	Ovarian neoplasm
ORPHANET:251510	NR0B1	190	HP:0100627	Displacement of the external urethral meatus
ORPHANET:251510	NR0B1	190	HP:0000133	Gonadal dysgenesis
ORPHANET:251510	NR0B1	190	HP:0008736	Hypoplasia of penis
ORPHANET:251510	NR0B1	190	HP:0010458	Female pseudohermaphroditism
ORPHANET:251510	NR0B1	190	HP:0010788	Testicular neoplasm
ORPHANET:251510	NR0B1	190	HP:0000062	Ambiguous genitalia
ORPHANET:251510	NR0B1	190	HP:0008207	Primary adrenal insufficiency
ORPHANET:251510	NR0B1	190	HP:0100615	Ovarian neoplasm
OMIM:610687	CFL2	1073	HP:0000218	High palate
OMIM:610687	CFL2	1073	HP:0001382	Joint hypermobility
OMIM:610687	CFL2	1073	HP:0003391	Gowers sign
OMIM:610687	CFL2	1073	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:610687	CFL2	1073	HP:0001288	Gait disturbance
OMIM:610687	CFL2	1073	HP:0002194	Delayed gross motor development
OMIM:610687	CFL2	1073	HP:0000467	Neck muscle weakness
OMIM:610687	CFL2	1073	HP:0003677	Slow progression
OMIM:610687	CFL2	1073	HP:0001252	Muscular hypotonia
OMIM:610687	CFL2	1073	HP:0001284	Areflexia
OMIM:610687	CFL2	1073	HP:0001324	Muscle weakness
OMIM:610687	CFL2	1073	HP:0000007	Autosomal recessive inheritance
OMIM:612240	GATA4	2626	HP:0005184	Prolonged QTc interval
OMIM:612240	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:612240	GATA4	2626	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	GATA4	2626	HP:0001962	Palpitations
OMIM:612240	GATA4	2626	HP:0012248	Prolonged PR interval
OMIM:612240	GATA6	2627	HP:0005184	Prolonged QTc interval
OMIM:612240	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:612240	GATA6	2627	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	GATA6	2627	HP:0001962	Palpitations
OMIM:612240	GATA6	2627	HP:0012248	Prolonged PR interval
OMIM:612240	KCNE2	9992	HP:0005184	Prolonged QTc interval
OMIM:612240	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:612240	KCNE2	9992	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	KCNE2	9992	HP:0001962	Palpitations
OMIM:612240	KCNE2	9992	HP:0012248	Prolonged PR interval
OMIM:612240	KCNQ1	3784	HP:0005184	Prolonged QTc interval
OMIM:612240	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:612240	KCNQ1	3784	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	KCNQ1	3784	HP:0001962	Palpitations
OMIM:612240	KCNQ1	3784	HP:0012248	Prolonged PR interval
OMIM:612240	KCNE1	3753	HP:0005184	Prolonged QTc interval
OMIM:612240	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:612240	KCNE1	3753	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	KCNE1	3753	HP:0001962	Palpitations
OMIM:612240	KCNE1	3753	HP:0012248	Prolonged PR interval
OMIM:612240	NKX2-5	1482	HP:0005184	Prolonged QTc interval
OMIM:612240	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:612240	NKX2-5	1482	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	NKX2-5	1482	HP:0001962	Palpitations
OMIM:612240	NKX2-5	1482	HP:0012248	Prolonged PR interval
OMIM:612240	ABCC9	10060	HP:0005184	Prolonged QTc interval
OMIM:612240	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:612240	ABCC9	10060	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	ABCC9	10060	HP:0001962	Palpitations
OMIM:612240	ABCC9	10060	HP:0012248	Prolonged PR interval
OMIM:612240	GJA5	2702	HP:0005184	Prolonged QTc interval
OMIM:612240	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:612240	GJA5	2702	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	GJA5	2702	HP:0001962	Palpitations
OMIM:612240	GJA5	2702	HP:0012248	Prolonged PR interval
OMIM:612240	NPPA	4878	HP:0005184	Prolonged QTc interval
OMIM:612240	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:612240	NPPA	4878	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	NPPA	4878	HP:0001962	Palpitations
OMIM:612240	NPPA	4878	HP:0012248	Prolonged PR interval
OMIM:612240	KCNJ2	3759	HP:0005184	Prolonged QTc interval
OMIM:612240	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:612240	KCNJ2	3759	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	KCNJ2	3759	HP:0001962	Palpitations
OMIM:612240	KCNJ2	3759	HP:0012248	Prolonged PR interval
OMIM:612240	NKX2-6	137814	HP:0005184	Prolonged QTc interval
OMIM:612240	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:612240	NKX2-6	137814	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	NKX2-6	137814	HP:0001962	Palpitations
OMIM:612240	NKX2-6	137814	HP:0012248	Prolonged PR interval
OMIM:612240	GATA5	140628	HP:0005184	Prolonged QTc interval
OMIM:612240	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:612240	GATA5	140628	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	GATA5	140628	HP:0001962	Palpitations
OMIM:612240	GATA5	140628	HP:0012248	Prolonged PR interval
OMIM:612240	SCN2B	6327	HP:0005184	Prolonged QTc interval
OMIM:612240	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:612240	SCN2B	6327	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	SCN2B	6327	HP:0001962	Palpitations
OMIM:612240	SCN2B	6327	HP:0012248	Prolonged PR interval
OMIM:612240	SCN3B	55800	HP:0005184	Prolonged QTc interval
OMIM:612240	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:612240	SCN3B	55800	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	SCN3B	55800	HP:0001962	Palpitations
OMIM:612240	SCN3B	55800	HP:0012248	Prolonged PR interval
OMIM:612240	SCN4B	6330	HP:0005184	Prolonged QTc interval
OMIM:612240	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:612240	SCN4B	6330	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	SCN4B	6330	HP:0001962	Palpitations
OMIM:612240	SCN4B	6330	HP:0012248	Prolonged PR interval
OMIM:612240	SCN5A	6331	HP:0005184	Prolonged QTc interval
OMIM:612240	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:612240	SCN5A	6331	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	SCN5A	6331	HP:0001962	Palpitations
OMIM:612240	SCN5A	6331	HP:0012248	Prolonged PR interval
OMIM:612240	PITX2	5308	HP:0005184	Prolonged QTc interval
OMIM:612240	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:612240	PITX2	5308	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	PITX2	5308	HP:0001962	Palpitations
OMIM:612240	PITX2	5308	HP:0012248	Prolonged PR interval
OMIM:612240	KCNA5	3741	HP:0005184	Prolonged QTc interval
OMIM:612240	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
OMIM:612240	KCNA5	3741	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	KCNA5	3741	HP:0001962	Palpitations
OMIM:612240	KCNA5	3741	HP:0012248	Prolonged PR interval
OMIM:612240	NUP155	9631	HP:0005184	Prolonged QTc interval
OMIM:612240	NUP155	9631	HP:0000006	Autosomal dominant inheritance
OMIM:612240	NUP155	9631	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612240	NUP155	9631	HP:0001962	Palpitations
OMIM:612240	NUP155	9631	HP:0012248	Prolonged PR interval
OMIM:609579	FGFR2	2263	HP:0000303	Mandibular prognathia
OMIM:609579	FGFR2	2263	HP:0000582	Upslanted palpebral fissure
OMIM:609579	FGFR2	2263	HP:0000268	Dolichocephaly
OMIM:609579	FGFR2	2263	HP:0000174	Abnormality of the palate
OMIM:609579	FGFR2	2263	HP:0000256	Macrocephaly
OMIM:609579	FGFR2	2263	HP:0001770	Toe syndactyly
OMIM:609579	FGFR2	2263	HP:0000348	High forehead
OMIM:609579	FGFR2	2263	HP:0001249	Intellectual disability
OMIM:609579	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:609579	FGFR2	2263	HP:0100543	Cognitive impairment
OMIM:609579	FGFR2	2263	HP:0000689	Dental malocclusion
OMIM:609579	FGFR2	2263	HP:0000272	Malar flattening
OMIM:609579	FGFR2	2263	HP:0000243	Trigonocephaly
OMIM:609579	FGFR2	2263	HP:0001841	Preaxial foot polydactyly
OMIM:609579	FGFR2	2263	HP:0002119	Ventriculomegaly
OMIM:603373	TSHR	7253	HP:0000006	Autosomal dominant inheritance
OMIM:603373	TSHR	7253	HP:0000836	Hyperthyroidism
ORPHANET:77301	PTCH1	5727	HP:0005616	Accelerated skeletal maturation
ORPHANET:77301	PTCH1	5727	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:77301	PTCH1	5727	HP:0000256	Macrocephaly
ORPHANET:77301	PTCH1	5727	HP:0001252	Muscular hypotonia
ORPHANET:77301	PTCH1	5727	HP:0000470	Short neck
ORPHANET:77301	PTCH1	5727	HP:0000494	Downslanted palpebral fissures
ORPHANET:77301	PTCH1	5727	HP:0002119	Ventriculomegaly
ORPHANET:77301	PTCH1	5727	HP:0000684	Delayed eruption of teeth
ORPHANET:77301	PTCH1	5727	HP:0001382	Joint hypermobility
ORPHANET:77301	PTCH1	5727	HP:0000767	Pectus excavatum
ORPHANET:77301	PTCH1	5727	HP:0008872	Feeding difficulties in infancy
ORPHANET:77301	PTCH1	5727	HP:0001537	Umbilical hernia
ORPHANET:77301	PTCH1	5727	HP:0009908	Anterior creases of earlobe
ORPHANET:77301	PTCH1	5727	HP:0009748	Large earlobe
ORPHANET:77301	PTCH1	5727	HP:0000286	Epicanthus
ORPHANET:77301	PTCH1	5727	HP:0000486	Strabismus
ORPHANET:77301	PTCH1	5727	HP:0002808	Kyphosis
ORPHANET:77301	PTCH1	5727	HP:0000098	Tall stature
ORPHANET:77301	PTCH1	5727	HP:0000243	Trigonocephaly
ORPHANET:77301	PTCH1	5727	HP:0100543	Cognitive impairment
ORPHANET:77301	PTCH1	5727	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:77301	PTCH1	5727	HP:0000160	Narrow mouth
ORPHANET:77301	PTCH1	5727	HP:0001250	Seizures
ORPHANET:77301	PTCH1	5727	HP:0000368	Low-set, posteriorly rotated ears
OMIM:100050	FGD1	2245	HP:0000175	Cleft palate
OMIM:100050	FGD1	2245	HP:0000327	Hypoplasia of the maxilla
OMIM:100050	FGD1	2245	HP:0001394	Cirrhosis
OMIM:100050	FGD1	2245	HP:0000765	Abnormality of the thorax
OMIM:100050	FGD1	2245	HP:0000431	Wide nasal bridge
OMIM:100050	FGD1	2245	HP:0000202	Oral cleft
OMIM:100050	FGD1	2245	HP:0002816	Genu recurvatum
OMIM:100050	FGD1	2245	HP:0001417	X-linked inheritance
OMIM:100050	FGD1	2245	HP:0000343	Long philtrum
OMIM:100050	FGD1	2245	HP:0002240	Hepatomegaly
OMIM:100050	FGD1	2245	HP:0000049	Shawl scrotum
OMIM:100050	FGD1	2245	HP:0000494	Downslanted palpebral fissures
OMIM:100050	FGD1	2245	HP:0002023	Anal atresia
OMIM:100050	FGD1	2245	HP:0000204	Cleft upper lip
OMIM:100050	FGD1	2245	HP:0009466	Radial deviation of finger
OMIM:100050	FGD1	2245	HP:0000463	Anteverted nares
OMIM:100050	FGD1	2245	HP:0000602	Ophthalmoplegia
OMIM:100050	FGD1	2245	HP:0001159	Syndactyly
OMIM:100050	FGD1	2245	HP:0001763	Pes planus
OMIM:100050	FGD1	2245	HP:0000028	Cryptorchidism
OMIM:100050	FGD1	2245	HP:0001371	Flexion contracture
OMIM:100050	FGD1	2245	HP:0001004	Lymphedema
OMIM:100050	FGD1	2245	HP:0000508	Ptosis
OMIM:100050	FGD1	2245	HP:0000974	Hyperextensible skin
OMIM:100050	FGD1	2245	HP:0000316	Hypertelorism
OMIM:100050	FGD1	2245	HP:0001972	Macrocytic anemia
OMIM:100050	FGD1	2245	HP:0000954	Single transverse palmar crease
OMIM:100050	FGD1	2245	HP:0000486	Strabismus
OMIM:100050	FGD1	2245	HP:0001156	Brachydactyly syndrome
OMIM:100050	FGD1	2245	HP:0001470	Sex-limited autosomal dominant
OMIM:100050	FGD1	2245	HP:0030084	Clinodactyly
OMIM:614293	KHDC3L	154288	HP:0000007	Autosomal recessive inheritance
OMIM:614293	NLRP7	199713	HP:0000007	Autosomal recessive inheritance
OMIM:300915	HMGB3	3149	HP:0012043	Pendular nystagmus
OMIM:300915	HMGB3	3149	HP:0000482	Microcornea
OMIM:300915	HMGB3	3149	HP:0000565	Esotropia
OMIM:300915	HMGB3	3149	HP:0000568	Microphthalmia
OMIM:300915	HMGB3	3149	HP:0004322	Short stature
OMIM:300915	HMGB3	3149	HP:0000508	Ptosis
OMIM:300915	HMGB3	3149	HP:0002751	Kyphoscoliosis
OMIM:300915	HMGB3	3149	HP:0001263	Global developmental delay
OMIM:300915	HMGB3	3149	HP:0000377	Abnormality of the pinna
OMIM:300915	HMGB3	3149	HP:0000252	Microcephaly
OMIM:300915	HMGB3	3149	HP:0001249	Intellectual disability
OMIM:300915	HMGB3	3149	HP:0001417	X-linked inheritance
OMIM:300915	HMGB3	3149	HP:0000589	Coloboma
OMIM:607271	CASP8	841	HP:0000007	Autosomal recessive inheritance
OMIM:607271	CASP8	841	HP:0002090	Pneumonia
OMIM:607271	CASP8	841	HP:0002099	Asthma
OMIM:607271	CASP8	841	HP:0002716	Lymphadenopathy
OMIM:607271	CASP8	841	HP:0000964	Eczema
OMIM:607271	CASP8	841	HP:0004322	Short stature
OMIM:607271	CASP8	841	HP:0001744	Splenomegaly
OMIM:607271	CASP8	841	HP:0001508	Failure to thrive
OMIM:607271	CASP8	841	HP:0002028	Chronic diarrhea
OMIM:601186	VSX2	338917	HP:0000126	Hydronephrosis
OMIM:601186	VSX2	338917	HP:0004322	Short stature
OMIM:601186	VSX2	338917	HP:0000125	Pelvic kidney
OMIM:601186	VSX2	338917	HP:0000023	Inguinal hernia
OMIM:601186	VSX2	338917	HP:0000028	Cryptorchidism
OMIM:601186	VSX2	338917	HP:0001629	Ventricular septal defect
OMIM:601186	VSX2	338917	HP:0001252	Muscular hypotonia
OMIM:601186	VSX2	338917	HP:0000013	Hypoplasia of the uterus
OMIM:601186	VSX2	338917	HP:0000776	Congenital diaphragmatic hernia
OMIM:601186	VSX2	338917	HP:0004712	Renal malrotation
OMIM:601186	VSX2	338917	HP:0000813	Bicornuate uterus
OMIM:601186	VSX2	338917	HP:0001511	Intrauterine growth retardation
OMIM:601186	VSX2	338917	HP:0001636	Tetralogy of Fallot
OMIM:601186	VSX2	338917	HP:0000085	Horseshoe kidney
OMIM:601186	VSX2	338917	HP:0000347	Micrognathia
OMIM:601186	VSX2	338917	HP:0000007	Autosomal recessive inheritance
OMIM:601186	VSX2	338917	HP:0000089	Renal hypoplasia
OMIM:601186	VSX2	338917	HP:0000528	Anophthalmia
OMIM:601186	VSX2	338917	HP:0002089	Pulmonary hypoplasia
OMIM:601186	VSX2	338917	HP:0001631	Atria septal defect
OMIM:601186	VSX2	338917	HP:0000431	Wide nasal bridge
OMIM:601186	VSX2	338917	HP:0002093	Respiratory insufficiency
OMIM:601186	VSX2	338917	HP:0001660	Truncus arteriosus
OMIM:601186	VSX2	338917	HP:0001642	Pulmonic stenosis
OMIM:601186	VSX2	338917	HP:0001643	Patent ductus arteriosus
OMIM:601186	VSX2	338917	HP:0000581	Blepharophimosis
OMIM:601186	VSX2	338917	HP:0002187	Intellectual disability, profound
OMIM:601186	VSX2	338917	HP:0001680	Coarctation of aorta
OMIM:601186	VSX2	338917	HP:0000369	Low-set ears
OMIM:601186	VSX2	338917	HP:0004935	Pulmonary artery atresia
OMIM:601186	VSX2	338917	HP:0002627	Right aortic arch with mirror image branching
OMIM:601186	TENM3	55714	HP:0000126	Hydronephrosis
OMIM:601186	TENM3	55714	HP:0004322	Short stature
OMIM:601186	TENM3	55714	HP:0000125	Pelvic kidney
OMIM:601186	TENM3	55714	HP:0000023	Inguinal hernia
OMIM:601186	TENM3	55714	HP:0000028	Cryptorchidism
OMIM:601186	TENM3	55714	HP:0001629	Ventricular septal defect
OMIM:601186	TENM3	55714	HP:0001252	Muscular hypotonia
OMIM:601186	TENM3	55714	HP:0000013	Hypoplasia of the uterus
OMIM:601186	TENM3	55714	HP:0000776	Congenital diaphragmatic hernia
OMIM:601186	TENM3	55714	HP:0004712	Renal malrotation
OMIM:601186	TENM3	55714	HP:0000813	Bicornuate uterus
OMIM:601186	TENM3	55714	HP:0001511	Intrauterine growth retardation
OMIM:601186	TENM3	55714	HP:0001636	Tetralogy of Fallot
OMIM:601186	TENM3	55714	HP:0000085	Horseshoe kidney
OMIM:601186	TENM3	55714	HP:0000347	Micrognathia
OMIM:601186	TENM3	55714	HP:0000007	Autosomal recessive inheritance
OMIM:601186	TENM3	55714	HP:0000089	Renal hypoplasia
OMIM:601186	TENM3	55714	HP:0000528	Anophthalmia
OMIM:601186	TENM3	55714	HP:0002089	Pulmonary hypoplasia
OMIM:601186	TENM3	55714	HP:0001631	Atria septal defect
OMIM:601186	TENM3	55714	HP:0000431	Wide nasal bridge
OMIM:601186	TENM3	55714	HP:0002093	Respiratory insufficiency
OMIM:601186	TENM3	55714	HP:0001660	Truncus arteriosus
OMIM:601186	TENM3	55714	HP:0001642	Pulmonic stenosis
OMIM:601186	TENM3	55714	HP:0001643	Patent ductus arteriosus
OMIM:601186	TENM3	55714	HP:0000581	Blepharophimosis
OMIM:601186	TENM3	55714	HP:0002187	Intellectual disability, profound
OMIM:601186	TENM3	55714	HP:0001680	Coarctation of aorta
OMIM:601186	TENM3	55714	HP:0000369	Low-set ears
OMIM:601186	TENM3	55714	HP:0004935	Pulmonary artery atresia
OMIM:601186	TENM3	55714	HP:0002627	Right aortic arch with mirror image branching
OMIM:601186	SHH	6469	HP:0000126	Hydronephrosis
OMIM:601186	SHH	6469	HP:0004322	Short stature
OMIM:601186	SHH	6469	HP:0000125	Pelvic kidney
OMIM:601186	SHH	6469	HP:0000023	Inguinal hernia
OMIM:601186	SHH	6469	HP:0000028	Cryptorchidism
OMIM:601186	SHH	6469	HP:0001629	Ventricular septal defect
OMIM:601186	SHH	6469	HP:0001252	Muscular hypotonia
OMIM:601186	SHH	6469	HP:0000013	Hypoplasia of the uterus
OMIM:601186	SHH	6469	HP:0000776	Congenital diaphragmatic hernia
OMIM:601186	SHH	6469	HP:0004712	Renal malrotation
OMIM:601186	SHH	6469	HP:0000813	Bicornuate uterus
OMIM:601186	SHH	6469	HP:0001511	Intrauterine growth retardation
OMIM:601186	SHH	6469	HP:0001636	Tetralogy of Fallot
OMIM:601186	SHH	6469	HP:0000085	Horseshoe kidney
OMIM:601186	SHH	6469	HP:0000347	Micrognathia
OMIM:601186	SHH	6469	HP:0000007	Autosomal recessive inheritance
OMIM:601186	SHH	6469	HP:0000089	Renal hypoplasia
OMIM:601186	SHH	6469	HP:0000528	Anophthalmia
OMIM:601186	SHH	6469	HP:0002089	Pulmonary hypoplasia
OMIM:601186	SHH	6469	HP:0001631	Atria septal defect
OMIM:601186	SHH	6469	HP:0000431	Wide nasal bridge
OMIM:601186	SHH	6469	HP:0002093	Respiratory insufficiency
OMIM:601186	SHH	6469	HP:0001660	Truncus arteriosus
OMIM:601186	SHH	6469	HP:0001642	Pulmonic stenosis
OMIM:601186	SHH	6469	HP:0001643	Patent ductus arteriosus
OMIM:601186	SHH	6469	HP:0000581	Blepharophimosis
OMIM:601186	SHH	6469	HP:0002187	Intellectual disability, profound
OMIM:601186	SHH	6469	HP:0001680	Coarctation of aorta
OMIM:601186	SHH	6469	HP:0000369	Low-set ears
OMIM:601186	SHH	6469	HP:0004935	Pulmonary artery atresia
OMIM:601186	SHH	6469	HP:0002627	Right aortic arch with mirror image branching
OMIM:601186	GDF3	9573	HP:0000126	Hydronephrosis
OMIM:601186	GDF3	9573	HP:0004322	Short stature
OMIM:601186	GDF3	9573	HP:0000125	Pelvic kidney
OMIM:601186	GDF3	9573	HP:0000023	Inguinal hernia
OMIM:601186	GDF3	9573	HP:0000028	Cryptorchidism
OMIM:601186	GDF3	9573	HP:0001629	Ventricular septal defect
OMIM:601186	GDF3	9573	HP:0001252	Muscular hypotonia
OMIM:601186	GDF3	9573	HP:0000013	Hypoplasia of the uterus
OMIM:601186	GDF3	9573	HP:0000776	Congenital diaphragmatic hernia
OMIM:601186	GDF3	9573	HP:0004712	Renal malrotation
OMIM:601186	GDF3	9573	HP:0000813	Bicornuate uterus
OMIM:601186	GDF3	9573	HP:0001511	Intrauterine growth retardation
OMIM:601186	GDF3	9573	HP:0001636	Tetralogy of Fallot
OMIM:601186	GDF3	9573	HP:0000085	Horseshoe kidney
OMIM:601186	GDF3	9573	HP:0000347	Micrognathia
OMIM:601186	GDF3	9573	HP:0000007	Autosomal recessive inheritance
OMIM:601186	GDF3	9573	HP:0000089	Renal hypoplasia
OMIM:601186	GDF3	9573	HP:0000528	Anophthalmia
OMIM:601186	GDF3	9573	HP:0002089	Pulmonary hypoplasia
OMIM:601186	GDF3	9573	HP:0001631	Atria septal defect
OMIM:601186	GDF3	9573	HP:0000431	Wide nasal bridge
OMIM:601186	GDF3	9573	HP:0002093	Respiratory insufficiency
OMIM:601186	GDF3	9573	HP:0001660	Truncus arteriosus
OMIM:601186	GDF3	9573	HP:0001642	Pulmonic stenosis
OMIM:601186	GDF3	9573	HP:0001643	Patent ductus arteriosus
OMIM:601186	GDF3	9573	HP:0000581	Blepharophimosis
OMIM:601186	GDF3	9573	HP:0002187	Intellectual disability, profound
OMIM:601186	GDF3	9573	HP:0001680	Coarctation of aorta
OMIM:601186	GDF3	9573	HP:0000369	Low-set ears
OMIM:601186	GDF3	9573	HP:0004935	Pulmonary artery atresia
OMIM:601186	GDF3	9573	HP:0002627	Right aortic arch with mirror image branching
OMIM:601186	GDF6	392255	HP:0000126	Hydronephrosis
OMIM:601186	GDF6	392255	HP:0004322	Short stature
OMIM:601186	GDF6	392255	HP:0000125	Pelvic kidney
OMIM:601186	GDF6	392255	HP:0000023	Inguinal hernia
OMIM:601186	GDF6	392255	HP:0000028	Cryptorchidism
OMIM:601186	GDF6	392255	HP:0001629	Ventricular septal defect
OMIM:601186	GDF6	392255	HP:0001252	Muscular hypotonia
OMIM:601186	GDF6	392255	HP:0000013	Hypoplasia of the uterus
OMIM:601186	GDF6	392255	HP:0000776	Congenital diaphragmatic hernia
OMIM:601186	GDF6	392255	HP:0004712	Renal malrotation
OMIM:601186	GDF6	392255	HP:0000813	Bicornuate uterus
OMIM:601186	GDF6	392255	HP:0001511	Intrauterine growth retardation
OMIM:601186	GDF6	392255	HP:0001636	Tetralogy of Fallot
OMIM:601186	GDF6	392255	HP:0000085	Horseshoe kidney
OMIM:601186	GDF6	392255	HP:0000347	Micrognathia
OMIM:601186	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:601186	GDF6	392255	HP:0000089	Renal hypoplasia
OMIM:601186	GDF6	392255	HP:0000528	Anophthalmia
OMIM:601186	GDF6	392255	HP:0002089	Pulmonary hypoplasia
OMIM:601186	GDF6	392255	HP:0001631	Atria septal defect
OMIM:601186	GDF6	392255	HP:0000431	Wide nasal bridge
OMIM:601186	GDF6	392255	HP:0002093	Respiratory insufficiency
OMIM:601186	GDF6	392255	HP:0001660	Truncus arteriosus
OMIM:601186	GDF6	392255	HP:0001642	Pulmonic stenosis
OMIM:601186	GDF6	392255	HP:0001643	Patent ductus arteriosus
OMIM:601186	GDF6	392255	HP:0000581	Blepharophimosis
OMIM:601186	GDF6	392255	HP:0002187	Intellectual disability, profound
OMIM:601186	GDF6	392255	HP:0001680	Coarctation of aorta
OMIM:601186	GDF6	392255	HP:0000369	Low-set ears
OMIM:601186	GDF6	392255	HP:0004935	Pulmonary artery atresia
OMIM:601186	GDF6	392255	HP:0002627	Right aortic arch with mirror image branching
OMIM:601186	ABCB6	10058	HP:0000126	Hydronephrosis
OMIM:601186	ABCB6	10058	HP:0004322	Short stature
OMIM:601186	ABCB6	10058	HP:0000125	Pelvic kidney
OMIM:601186	ABCB6	10058	HP:0000023	Inguinal hernia
OMIM:601186	ABCB6	10058	HP:0000028	Cryptorchidism
OMIM:601186	ABCB6	10058	HP:0001629	Ventricular septal defect
OMIM:601186	ABCB6	10058	HP:0001252	Muscular hypotonia
OMIM:601186	ABCB6	10058	HP:0000013	Hypoplasia of the uterus
OMIM:601186	ABCB6	10058	HP:0000776	Congenital diaphragmatic hernia
OMIM:601186	ABCB6	10058	HP:0004712	Renal malrotation
OMIM:601186	ABCB6	10058	HP:0000813	Bicornuate uterus
OMIM:601186	ABCB6	10058	HP:0001511	Intrauterine growth retardation
OMIM:601186	ABCB6	10058	HP:0001636	Tetralogy of Fallot
OMIM:601186	ABCB6	10058	HP:0000085	Horseshoe kidney
OMIM:601186	ABCB6	10058	HP:0000347	Micrognathia
OMIM:601186	ABCB6	10058	HP:0000007	Autosomal recessive inheritance
OMIM:601186	ABCB6	10058	HP:0000089	Renal hypoplasia
OMIM:601186	ABCB6	10058	HP:0000528	Anophthalmia
OMIM:601186	ABCB6	10058	HP:0002089	Pulmonary hypoplasia
OMIM:601186	ABCB6	10058	HP:0001631	Atria septal defect
OMIM:601186	ABCB6	10058	HP:0000431	Wide nasal bridge
OMIM:601186	ABCB6	10058	HP:0002093	Respiratory insufficiency
OMIM:601186	ABCB6	10058	HP:0001660	Truncus arteriosus
OMIM:601186	ABCB6	10058	HP:0001642	Pulmonic stenosis
OMIM:601186	ABCB6	10058	HP:0001643	Patent ductus arteriosus
OMIM:601186	ABCB6	10058	HP:0000581	Blepharophimosis
OMIM:601186	ABCB6	10058	HP:0002187	Intellectual disability, profound
OMIM:601186	ABCB6	10058	HP:0001680	Coarctation of aorta
OMIM:601186	ABCB6	10058	HP:0000369	Low-set ears
OMIM:601186	ABCB6	10058	HP:0004935	Pulmonary artery atresia
OMIM:601186	ABCB6	10058	HP:0002627	Right aortic arch with mirror image branching
OMIM:601186	RARB	5915	HP:0000126	Hydronephrosis
OMIM:601186	RARB	5915	HP:0004322	Short stature
OMIM:601186	RARB	5915	HP:0000125	Pelvic kidney
OMIM:601186	RARB	5915	HP:0000023	Inguinal hernia
OMIM:601186	RARB	5915	HP:0000028	Cryptorchidism
OMIM:601186	RARB	5915	HP:0001629	Ventricular septal defect
OMIM:601186	RARB	5915	HP:0001252	Muscular hypotonia
OMIM:601186	RARB	5915	HP:0000013	Hypoplasia of the uterus
OMIM:601186	RARB	5915	HP:0000776	Congenital diaphragmatic hernia
OMIM:601186	RARB	5915	HP:0004712	Renal malrotation
OMIM:601186	RARB	5915	HP:0000813	Bicornuate uterus
OMIM:601186	RARB	5915	HP:0001511	Intrauterine growth retardation
OMIM:601186	RARB	5915	HP:0001636	Tetralogy of Fallot
OMIM:601186	RARB	5915	HP:0000085	Horseshoe kidney
OMIM:601186	RARB	5915	HP:0000347	Micrognathia
OMIM:601186	RARB	5915	HP:0000007	Autosomal recessive inheritance
OMIM:601186	RARB	5915	HP:0000089	Renal hypoplasia
OMIM:601186	RARB	5915	HP:0000528	Anophthalmia
OMIM:601186	RARB	5915	HP:0002089	Pulmonary hypoplasia
OMIM:601186	RARB	5915	HP:0001631	Atria septal defect
OMIM:601186	RARB	5915	HP:0000431	Wide nasal bridge
OMIM:601186	RARB	5915	HP:0002093	Respiratory insufficiency
OMIM:601186	RARB	5915	HP:0001660	Truncus arteriosus
OMIM:601186	RARB	5915	HP:0001642	Pulmonic stenosis
OMIM:601186	RARB	5915	HP:0001643	Patent ductus arteriosus
OMIM:601186	RARB	5915	HP:0000581	Blepharophimosis
OMIM:601186	RARB	5915	HP:0002187	Intellectual disability, profound
OMIM:601186	RARB	5915	HP:0001680	Coarctation of aorta
OMIM:601186	RARB	5915	HP:0000369	Low-set ears
OMIM:601186	RARB	5915	HP:0004935	Pulmonary artery atresia
OMIM:601186	RARB	5915	HP:0002627	Right aortic arch with mirror image branching
OMIM:601186	STRA6	64220	HP:0000126	Hydronephrosis
OMIM:601186	STRA6	64220	HP:0004322	Short stature
OMIM:601186	STRA6	64220	HP:0000125	Pelvic kidney
OMIM:601186	STRA6	64220	HP:0000023	Inguinal hernia
OMIM:601186	STRA6	64220	HP:0000028	Cryptorchidism
OMIM:601186	STRA6	64220	HP:0001629	Ventricular septal defect
OMIM:601186	STRA6	64220	HP:0001252	Muscular hypotonia
OMIM:601186	STRA6	64220	HP:0000013	Hypoplasia of the uterus
OMIM:601186	STRA6	64220	HP:0000776	Congenital diaphragmatic hernia
OMIM:601186	STRA6	64220	HP:0004712	Renal malrotation
OMIM:601186	STRA6	64220	HP:0000813	Bicornuate uterus
OMIM:601186	STRA6	64220	HP:0001511	Intrauterine growth retardation
OMIM:601186	STRA6	64220	HP:0001636	Tetralogy of Fallot
OMIM:601186	STRA6	64220	HP:0000085	Horseshoe kidney
OMIM:601186	STRA6	64220	HP:0000347	Micrognathia
OMIM:601186	STRA6	64220	HP:0000007	Autosomal recessive inheritance
OMIM:601186	STRA6	64220	HP:0000089	Renal hypoplasia
OMIM:601186	STRA6	64220	HP:0000528	Anophthalmia
OMIM:601186	STRA6	64220	HP:0002089	Pulmonary hypoplasia
OMIM:601186	STRA6	64220	HP:0001631	Atria septal defect
OMIM:601186	STRA6	64220	HP:0000431	Wide nasal bridge
OMIM:601186	STRA6	64220	HP:0002093	Respiratory insufficiency
OMIM:601186	STRA6	64220	HP:0001660	Truncus arteriosus
OMIM:601186	STRA6	64220	HP:0001642	Pulmonic stenosis
OMIM:601186	STRA6	64220	HP:0001643	Patent ductus arteriosus
OMIM:601186	STRA6	64220	HP:0000581	Blepharophimosis
OMIM:601186	STRA6	64220	HP:0002187	Intellectual disability, profound
OMIM:601186	STRA6	64220	HP:0001680	Coarctation of aorta
OMIM:601186	STRA6	64220	HP:0000369	Low-set ears
OMIM:601186	STRA6	64220	HP:0004935	Pulmonary artery atresia
OMIM:601186	STRA6	64220	HP:0002627	Right aortic arch with mirror image branching
OMIM:601186	RBP4	5950	HP:0000126	Hydronephrosis
OMIM:601186	RBP4	5950	HP:0004322	Short stature
OMIM:601186	RBP4	5950	HP:0000125	Pelvic kidney
OMIM:601186	RBP4	5950	HP:0000023	Inguinal hernia
OMIM:601186	RBP4	5950	HP:0000028	Cryptorchidism
OMIM:601186	RBP4	5950	HP:0001629	Ventricular septal defect
OMIM:601186	RBP4	5950	HP:0001252	Muscular hypotonia
OMIM:601186	RBP4	5950	HP:0000013	Hypoplasia of the uterus
OMIM:601186	RBP4	5950	HP:0000776	Congenital diaphragmatic hernia
OMIM:601186	RBP4	5950	HP:0004712	Renal malrotation
OMIM:601186	RBP4	5950	HP:0000813	Bicornuate uterus
OMIM:601186	RBP4	5950	HP:0001511	Intrauterine growth retardation
OMIM:601186	RBP4	5950	HP:0001636	Tetralogy of Fallot
OMIM:601186	RBP4	5950	HP:0000085	Horseshoe kidney
OMIM:601186	RBP4	5950	HP:0000347	Micrognathia
OMIM:601186	RBP4	5950	HP:0000007	Autosomal recessive inheritance
OMIM:601186	RBP4	5950	HP:0000089	Renal hypoplasia
OMIM:601186	RBP4	5950	HP:0000528	Anophthalmia
OMIM:601186	RBP4	5950	HP:0002089	Pulmonary hypoplasia
OMIM:601186	RBP4	5950	HP:0001631	Atria septal defect
OMIM:601186	RBP4	5950	HP:0000431	Wide nasal bridge
OMIM:601186	RBP4	5950	HP:0002093	Respiratory insufficiency
OMIM:601186	RBP4	5950	HP:0001660	Truncus arteriosus
OMIM:601186	RBP4	5950	HP:0001642	Pulmonic stenosis
OMIM:601186	RBP4	5950	HP:0001643	Patent ductus arteriosus
OMIM:601186	RBP4	5950	HP:0000581	Blepharophimosis
OMIM:601186	RBP4	5950	HP:0002187	Intellectual disability, profound
OMIM:601186	RBP4	5950	HP:0001680	Coarctation of aorta
OMIM:601186	RBP4	5950	HP:0000369	Low-set ears
OMIM:601186	RBP4	5950	HP:0004935	Pulmonary artery atresia
OMIM:601186	RBP4	5950	HP:0002627	Right aortic arch with mirror image branching
ORPHANET:220393	CTGF	1490	HP:0000934	Chondrocalcinosis
ORPHANET:220393	CTGF	1490	HP:0002797	Osteolysis
ORPHANET:220393	CTGF	1490	HP:0001371	Flexion contracture
ORPHANET:220393	CTGF	1490	HP:0002206	Pulmonary fibrosis
ORPHANET:220393	CTGF	1490	HP:0008872	Feeding difficulties in infancy
ORPHANET:220393	CTGF	1490	HP:0000958	Dry skin
ORPHANET:220393	CTGF	1490	HP:0000217	Xerostomia
ORPHANET:220393	CTGF	1490	HP:0002017	Nausea and vomiting
ORPHANET:220393	CTGF	1490	HP:0002829	Arthralgia
ORPHANET:220393	CTGF	1490	HP:0001063	Acrocyanosis
ORPHANET:220393	CTGF	1490	HP:0002024	Malabsorption
ORPHANET:220393	CTGF	1490	HP:0002960	Autoimmunity
ORPHANET:220393	CTGF	1490	HP:0001369	Arthritis
ORPHANET:220393	CTGF	1490	HP:0002093	Respiratory insufficiency
ORPHANET:220393	CTGF	1490	HP:0001635	Congestive heart failure
ORPHANET:220393	CTGF	1490	HP:0100585	Telangiectasia of the skin
ORPHANET:220393	CTGF	1490	HP:0002113	Pulmonary infiltrates
ORPHANET:220393	CTGF	1490	HP:0200042	Skin ulcer
ORPHANET:220393	CTGF	1490	HP:0001324	Muscle weakness
ORPHANET:220393	CTGF	1490	HP:0100735	Hypertensive crisis
ORPHANET:220393	CTGF	1490	HP:0000670	Carious teeth
ORPHANET:220393	CTGF	1490	HP:0000083	Renal insufficiency
ORPHANET:220393	HLA-DRB1	3123	HP:0000934	Chondrocalcinosis
ORPHANET:220393	HLA-DRB1	3123	HP:0002797	Osteolysis
ORPHANET:220393	HLA-DRB1	3123	HP:0001371	Flexion contracture
ORPHANET:220393	HLA-DRB1	3123	HP:0002206	Pulmonary fibrosis
ORPHANET:220393	HLA-DRB1	3123	HP:0008872	Feeding difficulties in infancy
ORPHANET:220393	HLA-DRB1	3123	HP:0000958	Dry skin
ORPHANET:220393	HLA-DRB1	3123	HP:0000217	Xerostomia
ORPHANET:220393	HLA-DRB1	3123	HP:0002017	Nausea and vomiting
ORPHANET:220393	HLA-DRB1	3123	HP:0002829	Arthralgia
ORPHANET:220393	HLA-DRB1	3123	HP:0001063	Acrocyanosis
ORPHANET:220393	HLA-DRB1	3123	HP:0002024	Malabsorption
ORPHANET:220393	HLA-DRB1	3123	HP:0002960	Autoimmunity
ORPHANET:220393	HLA-DRB1	3123	HP:0001369	Arthritis
ORPHANET:220393	HLA-DRB1	3123	HP:0002093	Respiratory insufficiency
ORPHANET:220393	HLA-DRB1	3123	HP:0001635	Congestive heart failure
ORPHANET:220393	HLA-DRB1	3123	HP:0100585	Telangiectasia of the skin
ORPHANET:220393	HLA-DRB1	3123	HP:0002113	Pulmonary infiltrates
ORPHANET:220393	HLA-DRB1	3123	HP:0200042	Skin ulcer
ORPHANET:220393	HLA-DRB1	3123	HP:0001324	Muscle weakness
ORPHANET:220393	HLA-DRB1	3123	HP:0100735	Hypertensive crisis
ORPHANET:220393	HLA-DRB1	3123	HP:0000670	Carious teeth
ORPHANET:220393	HLA-DRB1	3123	HP:0000083	Renal insufficiency
ORPHANET:220393	CCR6	1235	HP:0000934	Chondrocalcinosis
ORPHANET:220393	CCR6	1235	HP:0002797	Osteolysis
ORPHANET:220393	CCR6	1235	HP:0001371	Flexion contracture
ORPHANET:220393	CCR6	1235	HP:0002206	Pulmonary fibrosis
ORPHANET:220393	CCR6	1235	HP:0008872	Feeding difficulties in infancy
ORPHANET:220393	CCR6	1235	HP:0000958	Dry skin
ORPHANET:220393	CCR6	1235	HP:0000217	Xerostomia
ORPHANET:220393	CCR6	1235	HP:0002017	Nausea and vomiting
ORPHANET:220393	CCR6	1235	HP:0002829	Arthralgia
ORPHANET:220393	CCR6	1235	HP:0001063	Acrocyanosis
ORPHANET:220393	CCR6	1235	HP:0002024	Malabsorption
ORPHANET:220393	CCR6	1235	HP:0002960	Autoimmunity
ORPHANET:220393	CCR6	1235	HP:0001369	Arthritis
ORPHANET:220393	CCR6	1235	HP:0002093	Respiratory insufficiency
ORPHANET:220393	CCR6	1235	HP:0001635	Congestive heart failure
ORPHANET:220393	CCR6	1235	HP:0100585	Telangiectasia of the skin
ORPHANET:220393	CCR6	1235	HP:0002113	Pulmonary infiltrates
ORPHANET:220393	CCR6	1235	HP:0200042	Skin ulcer
ORPHANET:220393	CCR6	1235	HP:0001324	Muscle weakness
ORPHANET:220393	CCR6	1235	HP:0100735	Hypertensive crisis
ORPHANET:220393	CCR6	1235	HP:0000670	Carious teeth
ORPHANET:220393	CCR6	1235	HP:0000083	Renal insufficiency
ORPHANET:220393	CAV1	857	HP:0000934	Chondrocalcinosis
ORPHANET:220393	CAV1	857	HP:0002797	Osteolysis
ORPHANET:220393	CAV1	857	HP:0001371	Flexion contracture
ORPHANET:220393	CAV1	857	HP:0002206	Pulmonary fibrosis
ORPHANET:220393	CAV1	857	HP:0008872	Feeding difficulties in infancy
ORPHANET:220393	CAV1	857	HP:0000958	Dry skin
ORPHANET:220393	CAV1	857	HP:0000217	Xerostomia
ORPHANET:220393	CAV1	857	HP:0002017	Nausea and vomiting
ORPHANET:220393	CAV1	857	HP:0002829	Arthralgia
ORPHANET:220393	CAV1	857	HP:0001063	Acrocyanosis
ORPHANET:220393	CAV1	857	HP:0002024	Malabsorption
ORPHANET:220393	CAV1	857	HP:0002960	Autoimmunity
ORPHANET:220393	CAV1	857	HP:0001369	Arthritis
ORPHANET:220393	CAV1	857	HP:0002093	Respiratory insufficiency
ORPHANET:220393	CAV1	857	HP:0001635	Congestive heart failure
ORPHANET:220393	CAV1	857	HP:0100585	Telangiectasia of the skin
ORPHANET:220393	CAV1	857	HP:0002113	Pulmonary infiltrates
ORPHANET:220393	CAV1	857	HP:0200042	Skin ulcer
ORPHANET:220393	CAV1	857	HP:0001324	Muscle weakness
ORPHANET:220393	CAV1	857	HP:0100735	Hypertensive crisis
ORPHANET:220393	CAV1	857	HP:0000670	Carious teeth
ORPHANET:220393	CAV1	857	HP:0000083	Renal insufficiency
ORPHANET:220393	IRF5	3663	HP:0000934	Chondrocalcinosis
ORPHANET:220393	IRF5	3663	HP:0002797	Osteolysis
ORPHANET:220393	IRF5	3663	HP:0001371	Flexion contracture
ORPHANET:220393	IRF5	3663	HP:0002206	Pulmonary fibrosis
ORPHANET:220393	IRF5	3663	HP:0008872	Feeding difficulties in infancy
ORPHANET:220393	IRF5	3663	HP:0000958	Dry skin
ORPHANET:220393	IRF5	3663	HP:0000217	Xerostomia
ORPHANET:220393	IRF5	3663	HP:0002017	Nausea and vomiting
ORPHANET:220393	IRF5	3663	HP:0002829	Arthralgia
ORPHANET:220393	IRF5	3663	HP:0001063	Acrocyanosis
ORPHANET:220393	IRF5	3663	HP:0002024	Malabsorption
ORPHANET:220393	IRF5	3663	HP:0002960	Autoimmunity
ORPHANET:220393	IRF5	3663	HP:0001369	Arthritis
ORPHANET:220393	IRF5	3663	HP:0002093	Respiratory insufficiency
ORPHANET:220393	IRF5	3663	HP:0001635	Congestive heart failure
ORPHANET:220393	IRF5	3663	HP:0100585	Telangiectasia of the skin
ORPHANET:220393	IRF5	3663	HP:0002113	Pulmonary infiltrates
ORPHANET:220393	IRF5	3663	HP:0200042	Skin ulcer
ORPHANET:220393	IRF5	3663	HP:0001324	Muscle weakness
ORPHANET:220393	IRF5	3663	HP:0100735	Hypertensive crisis
ORPHANET:220393	IRF5	3663	HP:0000670	Carious teeth
ORPHANET:220393	IRF5	3663	HP:0000083	Renal insufficiency
OMIM:609152	TSHR	7253	HP:0000006	Autosomal dominant inheritance
OMIM:609152	TSHR	7253	HP:0001270	Motor delay
OMIM:609152	TSHR	7253	HP:0001649	Tachycardia
OMIM:609152	TSHR	7253	HP:0000853	Goiter
OMIM:609152	TSHR	7253	HP:0001518	Small for gestational age
OMIM:609152	TSHR	7253	HP:0001622	Premature birth
OMIM:609152	TSHR	7253	HP:0001249	Intellectual disability
OMIM:609152	TSHR	7253	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:609152	TSHR	7253	HP:0000752	Hyperactivity
OMIM:609152	TSHR	7253	HP:0000836	Hyperthyroidism
OMIM:609152	TSHR	7253	HP:0005616	Accelerated skeletal maturation
OMIM:609152	TSHR	7253	HP:0003745	Sporadic
OMIM:609152	TSHR	7253	HP:0000750	Delayed speech and language development
OMIM:615072	GDF5	8200	HP:0000007	Autosomal recessive inheritance
OMIM:615072	GDF5	8200	HP:0001156	Brachydactyly syndrome
OMIM:615072	IHH	3549	HP:0000007	Autosomal recessive inheritance
OMIM:615072	IHH	3549	HP:0001156	Brachydactyly syndrome
OMIM:122880	PAX3	5077	HP:0000160	Narrow mouth
OMIM:122880	PAX3	5077	HP:0000006	Autosomal dominant inheritance
OMIM:122880	PAX3	5077	HP:0009924	Aplasia/Hypoplasia involving the nose
OMIM:122880	PAX3	5077	HP:0003019	Abnormality of the wrist
OMIM:122880	PAX3	5077	HP:0003196	Short nose
OMIM:122880	PAX3	5077	HP:0000632	Lacrimation abnormality
OMIM:122880	PAX3	5077	HP:0100490	Camptodactyly of finger
OMIM:122880	PAX3	5077	HP:0000407	Sensorineural hearing impairment
OMIM:122880	PAX3	5077	HP:0000494	Downslanted palpebral fissures
OMIM:122880	PAX3	5077	HP:0000272	Malar flattening
OMIM:122880	PAX3	5077	HP:0000316	Hypertelorism
OMIM:122880	PAX3	5077	HP:0012368	Flat face
OMIM:122880	PAX3	5077	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:122880	PAX3	5077	HP:0000327	Hypoplasia of the maxilla
OMIM:122880	PAX3	5077	HP:0000275	Narrow face
OMIM:122880	PAX3	5077	HP:0000457	Depressed nasal ridge
OMIM:122880	PAX3	5077	HP:0000581	Blepharophimosis
OMIM:122880	PAX3	5077	HP:0005280	Depressed nasal bridge
OMIM:122880	PAX3	5077	HP:0009465	Ulnar deviation of finger
OMIM:600546	ATR	545	HP:0001263	Global developmental delay
OMIM:600546	ATR	545	HP:0001999	Abnormal facial shape
OMIM:600546	ATR	545	HP:0001876	Pancytopenia
OMIM:600546	ATR	545	HP:0003220	Abnormality of chromosome stability
OMIM:600546	ATR	545	HP:0000252	Microcephaly
OMIM:600546	ATR	545	HP:0000007	Autosomal recessive inheritance
OMIM:600546	ATR	545	HP:0008897	Postnatal growth retardation
OMIM:600546	ATR	545	HP:0001511	Intrauterine growth retardation
OMIM:600546	CEP152	22995	HP:0001263	Global developmental delay
OMIM:600546	CEP152	22995	HP:0001999	Abnormal facial shape
OMIM:600546	CEP152	22995	HP:0001876	Pancytopenia
OMIM:600546	CEP152	22995	HP:0003220	Abnormality of chromosome stability
OMIM:600546	CEP152	22995	HP:0000252	Microcephaly
OMIM:600546	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:600546	CEP152	22995	HP:0008897	Postnatal growth retardation
OMIM:600546	CEP152	22995	HP:0001511	Intrauterine growth retardation
OMIM:600546	CENPE	1062	HP:0001263	Global developmental delay
OMIM:600546	CENPE	1062	HP:0001999	Abnormal facial shape
OMIM:600546	CENPE	1062	HP:0001876	Pancytopenia
OMIM:600546	CENPE	1062	HP:0003220	Abnormality of chromosome stability
OMIM:600546	CENPE	1062	HP:0000252	Microcephaly
OMIM:600546	CENPE	1062	HP:0000007	Autosomal recessive inheritance
OMIM:600546	CENPE	1062	HP:0008897	Postnatal growth retardation
OMIM:600546	CENPE	1062	HP:0001511	Intrauterine growth retardation
OMIM:600546	CENPJ	55835	HP:0001263	Global developmental delay
OMIM:600546	CENPJ	55835	HP:0001999	Abnormal facial shape
OMIM:600546	CENPJ	55835	HP:0001876	Pancytopenia
OMIM:600546	CENPJ	55835	HP:0003220	Abnormality of chromosome stability
OMIM:600546	CENPJ	55835	HP:0000252	Microcephaly
OMIM:600546	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:600546	CENPJ	55835	HP:0008897	Postnatal growth retardation
OMIM:600546	CENPJ	55835	HP:0001511	Intrauterine growth retardation
OMIM:600546	PCNT	5116	HP:0001263	Global developmental delay
OMIM:600546	PCNT	5116	HP:0001999	Abnormal facial shape
OMIM:600546	PCNT	5116	HP:0001876	Pancytopenia
OMIM:600546	PCNT	5116	HP:0003220	Abnormality of chromosome stability
OMIM:600546	PCNT	5116	HP:0000252	Microcephaly
OMIM:600546	PCNT	5116	HP:0000007	Autosomal recessive inheritance
OMIM:600546	PCNT	5116	HP:0008897	Postnatal growth retardation
OMIM:600546	PCNT	5116	HP:0001511	Intrauterine growth retardation
OMIM:600546	RBBP8	5932	HP:0001263	Global developmental delay
OMIM:600546	RBBP8	5932	HP:0001999	Abnormal facial shape
OMIM:600546	RBBP8	5932	HP:0001876	Pancytopenia
OMIM:600546	RBBP8	5932	HP:0003220	Abnormality of chromosome stability
OMIM:600546	RBBP8	5932	HP:0000252	Microcephaly
OMIM:600546	RBBP8	5932	HP:0000007	Autosomal recessive inheritance
OMIM:600546	RBBP8	5932	HP:0008897	Postnatal growth retardation
OMIM:600546	RBBP8	5932	HP:0001511	Intrauterine growth retardation
OMIM:600546	PLK4	10733	HP:0001263	Global developmental delay
OMIM:600546	PLK4	10733	HP:0001999	Abnormal facial shape
OMIM:600546	PLK4	10733	HP:0001876	Pancytopenia
OMIM:600546	PLK4	10733	HP:0003220	Abnormality of chromosome stability
OMIM:600546	PLK4	10733	HP:0000252	Microcephaly
OMIM:600546	PLK4	10733	HP:0000007	Autosomal recessive inheritance
OMIM:600546	PLK4	10733	HP:0008897	Postnatal growth retardation
OMIM:600546	PLK4	10733	HP:0001511	Intrauterine growth retardation
OMIM:600546	ATRIP	84126	HP:0001263	Global developmental delay
OMIM:600546	ATRIP	84126	HP:0001999	Abnormal facial shape
OMIM:600546	ATRIP	84126	HP:0001876	Pancytopenia
OMIM:600546	ATRIP	84126	HP:0003220	Abnormality of chromosome stability
OMIM:600546	ATRIP	84126	HP:0000252	Microcephaly
OMIM:600546	ATRIP	84126	HP:0000007	Autosomal recessive inheritance
OMIM:600546	ATRIP	84126	HP:0008897	Postnatal growth retardation
OMIM:600546	ATRIP	84126	HP:0001511	Intrauterine growth retardation
OMIM:616289	ACO2	50	HP:0000648	Optic atrophy
OMIM:616289	ACO2	50	HP:0000505	Visual impairment
OMIM:616289	ACO2	50	HP:0007663	Reduced visual acuity
OMIM:616289	ACO2	50	HP:0000642	Red-green dyschromatopsia
OMIM:607832	CD2AP	23607	HP:0000790	Hematuria
OMIM:607832	CD2AP	23607	HP:0000097	Focal segmental glomerulosclerosis
OMIM:607832	CD2AP	23607	HP:0000083	Renal insufficiency
OMIM:607832	CD2AP	23607	HP:0000822	Hypertension
OMIM:607832	CD2AP	23607	HP:0000093	Proteinuria
OMIM:300354	CUL4B	8450	HP:0000035	Abnormality of the testis
OMIM:300354	CUL4B	8450	HP:0001337	Tremor
OMIM:300354	CUL4B	8450	HP:0001288	Gait disturbance
OMIM:300354	CUL4B	8450	HP:0001761	Pes cavus
OMIM:300354	CUL4B	8450	HP:0002808	Kyphosis
OMIM:300354	CUL4B	8450	HP:0000232	Everted lower lip vermilion
OMIM:300354	CUL4B	8450	HP:0000154	Wide mouth
OMIM:300354	CUL4B	8450	HP:0001763	Pes planus
OMIM:300354	CUL4B	8450	HP:0000179	Thick lower lip vermilion
OMIM:300354	CUL4B	8450	HP:0001156	Brachydactyly syndrome
OMIM:300354	CUL4B	8450	HP:0001382	Joint hypermobility
OMIM:300354	CUL4B	8450	HP:0000054	Micropenis
OMIM:300354	CUL4B	8450	HP:0001250	Seizures
OMIM:300354	CUL4B	8450	HP:0001956	Truncal obesity
OMIM:300354	CUL4B	8450	HP:0001770	Toe syndactyly
OMIM:300354	CUL4B	8450	HP:0000256	Macrocephaly
OMIM:300354	CUL4B	8450	HP:0100543	Cognitive impairment
OMIM:300354	CUL4B	8450	HP:0000581	Blepharophimosis
OMIM:300354	CUL4B	8450	HP:0000028	Cryptorchidism
OMIM:300354	CUL4B	8450	HP:0010978	Abnormality of immune system physiology
OMIM:300354	CUL4B	8450	HP:0001388	Joint laxity
OMIM:300354	CUL4B	8450	HP:0004482	Relative macrocephaly
OMIM:300354	CUL4B	8450	HP:0000158	Macroglossia
OMIM:300354	CUL4B	8450	HP:0001419	X-linked recessive inheritance
OMIM:300354	CUL4B	8450	HP:0001852	Sandal gap
OMIM:300354	CUL4B	8450	HP:0008734	Decreased testicular size
OMIM:300354	CUL4B	8450	HP:0001344	Absent speech
OMIM:300354	CUL4B	8450	HP:0001773	Short foot
OMIM:300354	CUL4B	8450	HP:0004322	Short stature
OMIM:300354	CUL4B	8450	HP:0000280	Coarse facial features
OMIM:300354	CUL4B	8450	HP:0001252	Muscular hypotonia
OMIM:300354	CUL4B	8450	HP:0001065	Striae distensae
OMIM:300354	CUL4B	8450	HP:0000135	Hypogonadism
OMIM:300354	CUL4B	8450	HP:0002066	Gait ataxia
OMIM:300354	CUL4B	8450	HP:0000752	Hyperactivity
OMIM:300354	CUL4B	8450	HP:0002167	Neurological speech impairment
OMIM:300354	CUL4B	8450	HP:0004299	Hernia of the abdominal wall
OMIM:300354	CUL4B	8450	HP:0001249	Intellectual disability
OMIM:300354	CUL4B	8450	HP:0000975	Hyperhidrosis
OMIM:300354	CUL4B	8450	HP:0001831	Short toe
OMIM:300354	CUL4B	8450	HP:0000047	Hypospadias
OMIM:300354	CUL4B	8450	HP:0000956	Acanthosis nigricans
OMIM:300354	CUL4B	8450	HP:0000720	Mood swings
OMIM:300354	CUL4B	8450	HP:0004325	Decreased body weight
OMIM:602875	NPR2	4882	HP:0005280	Depressed nasal bridge
OMIM:602875	NPR2	4882	HP:0006009	Broad phalanx
OMIM:602875	NPR2	4882	HP:0000912	Sprengel anomaly
OMIM:602875	NPR2	4882	HP:0001382	Joint hypermobility
OMIM:602875	NPR2	4882	HP:0003498	Disproportionate short stature
OMIM:602875	NPR2	4882	HP:0001156	Brachydactyly syndrome
OMIM:602875	NPR2	4882	HP:0001376	Limitation of joint mobility
OMIM:602875	NPR2	4882	HP:0003015	Flared metaphysis
OMIM:602875	NPR2	4882	HP:0002938	Lumbar hyperlordosis
OMIM:602875	NPR2	4882	HP:0003196	Short nose
OMIM:602875	NPR2	4882	HP:0002986	Radial bowing
OMIM:602875	NPR2	4882	HP:0002984	Hypoplasia of the radius
OMIM:602875	NPR2	4882	HP:0011220	Prominent forehead
OMIM:602875	NPR2	4882	HP:0003312	Abnormal form of the vertebral bodies
OMIM:602875	NPR2	4882	HP:0001831	Short toe
OMIM:602875	NPR2	4882	HP:0010743	Short metatarsal
OMIM:602875	NPR2	4882	HP:0002007	Frontal bossing
OMIM:602875	NPR2	4882	HP:0002650	Scoliosis
OMIM:602875	NPR2	4882	HP:0003300	Ovoid vertebral bodies
OMIM:602875	NPR2	4882	HP:0001500	Broad finger
OMIM:602875	NPR2	4882	HP:0006487	Bowing of the long bones
OMIM:602875	NPR2	4882	HP:0001799	Short nail
OMIM:602875	NPR2	4882	HP:0004322	Short stature
OMIM:602875	NPR2	4882	HP:0010049	Short metacarpal
OMIM:602875	NPR2	4882	HP:0000007	Autosomal recessive inheritance
OMIM:602875	NPR2	4882	HP:0001388	Joint laxity
OMIM:602875	NPR2	4882	HP:0000268	Dolichocephaly
OMIM:602875	NPR2	4882	HP:0002983	Micromelia
OMIM:602875	NPR2	4882	HP:0003307	Hyperlordosis
OMIM:602875	NPR2	4882	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:602875	NPR2	4882	HP:0002808	Kyphosis
OMIM:602875	NPR2	4882	HP:0009803	Short phalanx of finger
OMIM:267450	SFTPB	6439	HP:0100750	Atelectasis
OMIM:267450	SFTPB	6439	HP:0001622	Premature birth
OMIM:267450	SFTPB	6439	HP:0001426	Multifactorial inheritance
OMIM:267450	SFTPB	6439	HP:0002098	Respiratory distress
OMIM:267450	SFTPB	6439	HP:0002789	Tachypnea
OMIM:267450	SFTPB	6439	HP:0003745	Sporadic
OMIM:267450	SFTPB	6439	HP:0003577	Congenital onset
OMIM:267450	SFTPC	6440	HP:0100750	Atelectasis
OMIM:267450	SFTPC	6440	HP:0001622	Premature birth
OMIM:267450	SFTPC	6440	HP:0001426	Multifactorial inheritance
OMIM:267450	SFTPC	6440	HP:0002098	Respiratory distress
OMIM:267450	SFTPC	6440	HP:0002789	Tachypnea
OMIM:267450	SFTPC	6440	HP:0003745	Sporadic
OMIM:267450	SFTPC	6440	HP:0003577	Congenital onset
OMIM:304110	EFNB1	1947	HP:0000506	Telecanthus
OMIM:304110	EFNB1	1947	HP:0000776	Congenital diaphragmatic hernia
OMIM:304110	EFNB1	1947	HP:0002162	Low posterior hairline
OMIM:304110	EFNB1	1947	HP:0001547	Abnormality of the rib cage
OMIM:304110	EFNB1	1947	HP:0000252	Microcephaly
OMIM:304110	EFNB1	1947	HP:0002007	Frontal bossing
OMIM:304110	EFNB1	1947	HP:0002079	Hypoplasia of the corpus callosum
OMIM:304110	EFNB1	1947	HP:0000204	Cleft upper lip
OMIM:304110	EFNB1	1947	HP:0000577	Exotropia
OMIM:304110	EFNB1	1947	HP:0000324	Facial asymmetry
OMIM:304110	EFNB1	1947	HP:0000912	Sprengel anomaly
OMIM:304110	EFNB1	1947	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:304110	EFNB1	1947	HP:0001263	Global developmental delay
OMIM:304110	EFNB1	1947	HP:0002650	Scoliosis
OMIM:304110	EFNB1	1947	HP:0000494	Downslanted palpebral fissures
OMIM:304110	EFNB1	1947	HP:0001252	Muscular hypotonia
OMIM:304110	EFNB1	1947	HP:0001382	Joint hypermobility
OMIM:304110	EFNB1	1947	HP:0100627	Displacement of the external urethral meatus
OMIM:304110	EFNB1	1947	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:304110	EFNB1	1947	HP:0000028	Cryptorchidism
OMIM:304110	EFNB1	1947	HP:0000174	Abnormality of the palate
OMIM:304110	EFNB1	1947	HP:0001852	Sandal gap
OMIM:304110	EFNB1	1947	HP:0000767	Pectus excavatum
OMIM:304110	EFNB1	1947	HP:0000047	Hypospadias
OMIM:304110	EFNB1	1947	HP:0000175	Cleft palate
OMIM:304110	EFNB1	1947	HP:0006101	Finger syndactyly
OMIM:304110	EFNB1	1947	HP:0001537	Umbilical hernia
OMIM:304110	EFNB1	1947	HP:0100543	Cognitive impairment
OMIM:304110	EFNB1	1947	HP:0000316	Hypertelorism
OMIM:304110	EFNB1	1947	HP:0000889	Abnormality of the clavicle
OMIM:304110	EFNB1	1947	HP:0001161	Hand polydactyly
OMIM:304110	EFNB1	1947	HP:0004440	Coronal craniosynostosis
OMIM:304110	EFNB1	1947	HP:0000431	Wide nasal bridge
OMIM:304110	EFNB1	1947	HP:0000049	Shawl scrotum
OMIM:304110	EFNB1	1947	HP:0001357	Plagiocephaly
OMIM:304110	EFNB1	1947	HP:0001156	Brachydactyly syndrome
OMIM:304110	EFNB1	1947	HP:0000474	Thickened nuchal skin fold
OMIM:304110	EFNB1	1947	HP:0008388	Abnormality of the toenails
OMIM:304110	EFNB1	1947	HP:0004209	Clinodactyly of the 5th finger
OMIM:304110	EFNB1	1947	HP:0000639	Nystagmus
OMIM:304110	EFNB1	1947	HP:0001388	Joint laxity
OMIM:304110	EFNB1	1947	HP:0009890	High anterior hairline
OMIM:304110	EFNB1	1947	HP:0000248	Brachycephaly
OMIM:304110	EFNB1	1947	HP:0001231	Abnormality of the fingernails
OMIM:304110	EFNB1	1947	HP:0001770	Toe syndactyly
OMIM:304110	EFNB1	1947	HP:0000164	Abnormality of the teeth
OMIM:304110	EFNB1	1947	HP:0010055	Broad hallux
OMIM:304110	EFNB1	1947	HP:0000470	Short neck
OMIM:304110	EFNB1	1947	HP:0004122	Midline defect of the nose
OMIM:304110	EFNB1	1947	HP:0003043	Abnormality of the shoulder
OMIM:304110	EFNB1	1947	HP:0004322	Short stature
OMIM:304110	EFNB1	1947	HP:0001841	Preaxial foot polydactyly
OMIM:304110	EFNB1	1947	HP:0002224	Woolly hair
OMIM:304110	EFNB1	1947	HP:0100490	Camptodactyly of finger
OMIM:304110	EFNB1	1947	HP:0001423	X-linked dominant inheritance
OMIM:304110	EFNB1	1947	HP:0000457	Depressed nasal ridge
OMIM:304110	EFNB1	1947	HP:0000407	Sensorineural hearing impairment
OMIM:304110	EFNB1	1947	HP:0200021	Down-sloping shoulders
OMIM:304110	EFNB1	1947	HP:0000202	Oral cleft
OMIM:304110	EFNB1	1947	HP:0001363	Craniosynostosis
OMIM:615649	DIAPH1	1729	HP:0000365	Hearing impairment
OMIM:615649	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:615649	CEACAM16	388551	HP:0000365	Hearing impairment
OMIM:615649	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:615649	SLC17A8	246213	HP:0000365	Hearing impairment
OMIM:615649	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:615649	TJP2	9414	HP:0000365	Hearing impairment
OMIM:615649	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:615649	ACTG1	71	HP:0000365	Hearing impairment
OMIM:615649	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:615649	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:615649	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:615649	MIR96	407053	HP:0000365	Hearing impairment
OMIM:615649	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:615649	GJB2	2706	HP:0000365	Hearing impairment
OMIM:615649	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:615649	POU4F3	5459	HP:0000365	Hearing impairment
OMIM:615649	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:615649	GJB3	2707	HP:0000365	Hearing impairment
OMIM:615649	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:615649	MYH9	4627	HP:0000365	Hearing impairment
OMIM:615649	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:615649	CRYM	1428	HP:0000365	Hearing impairment
OMIM:615649	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:615649	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:615649	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:615649	EYA4	2070	HP:0000365	Hearing impairment
OMIM:615649	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:615649	DFNA5	1687	HP:0000365	Hearing impairment
OMIM:615649	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:615649	DIAPH3	81624	HP:0000365	Hearing impairment
OMIM:615649	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:615649	TMC1	117531	HP:0000365	Hearing impairment
OMIM:615649	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:615649	COCH	1690	HP:0000365	Hearing impairment
OMIM:615649	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:615649	OSBPL2	9885	HP:0000365	Hearing impairment
OMIM:615649	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:615649	SIX1	6495	HP:0000365	Hearing impairment
OMIM:615649	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:615649	TECTA	7007	HP:0000365	Hearing impairment
OMIM:615649	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:615649	MYO1A	4640	HP:0000365	Hearing impairment
OMIM:615649	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:615649	MYO1C	4641	HP:0000365	Hearing impairment
OMIM:615649	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:615649	MYO6	4646	HP:0000365	Hearing impairment
OMIM:615649	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:615649	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:615649	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:615649	GRHL2	79977	HP:0000365	Hearing impairment
OMIM:615649	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:615649	DIABLO	56616	HP:0000365	Hearing impairment
OMIM:615649	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:615649	MYH14	79784	HP:0000365	Hearing impairment
OMIM:615649	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:615649	P2RX2	22953	HP:0000365	Hearing impairment
OMIM:615649	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:615649	WFS1	7466	HP:0000365	Hearing impairment
OMIM:615649	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:615649	TNC	3371	HP:0000365	Hearing impairment
OMIM:615649	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:615649	KCNQ4	9132	HP:0000365	Hearing impairment
OMIM:615649	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:615649	HOMER2	9455	HP:0000365	Hearing impairment
OMIM:615649	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:615649	GJB6	10804	HP:0000365	Hearing impairment
OMIM:615649	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:615649	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:615649	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:610951	MFSD8	256471	HP:0000580	Pigmentary retinopathy
OMIM:610951	MFSD8	256471	HP:0002353	EEG abnormality
OMIM:610951	MFSD8	256471	HP:0000618	Blindness
OMIM:610951	MFSD8	256471	HP:0002123	Generalized myoclonic seizures
OMIM:610951	MFSD8	256471	HP:0001263	Global developmental delay
OMIM:610951	MFSD8	256471	HP:0000488	Retinopathy
OMIM:610951	MFSD8	256471	HP:0000750	Delayed speech and language development
OMIM:610951	MFSD8	256471	HP:0002180	Neurodegeneration
OMIM:610951	MFSD8	256471	HP:0000572	Visual loss
OMIM:610951	MFSD8	256471	HP:0001251	Ataxia
OMIM:610951	MFSD8	256471	HP:0000648	Optic atrophy
OMIM:610951	MFSD8	256471	HP:0001268	Mental deterioration
OMIM:610951	MFSD8	256471	HP:0002360	Sleep disturbance
OMIM:610951	MFSD8	256471	HP:0003678	Rapidly progressive
OMIM:610951	MFSD8	256471	HP:0001272	Cerebellar atrophy
OMIM:610951	MFSD8	256471	HP:0002059	Cerebral atrophy
OMIM:610951	MFSD8	256471	HP:0000007	Autosomal recessive inheritance
OMIM:610951	MFSD8	256471	HP:0003621	Juvenile onset
OMIM:615482	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DNAAF2	55172	HP:0000789	Infertility
OMIM:615482	DNAAF2	55172	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:615482	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
OMIM:615482	DNAAF2	55172	HP:0003593	Infantile onset
OMIM:615482	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:615482	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:615482	DNAAF2	55172	HP:0012263	Immotile cilia
OMIM:615482	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:615482	CCNO	10309	HP:0000789	Infertility
OMIM:615482	CCNO	10309	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:615482	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:615482	CCNO	10309	HP:0003593	Infantile onset
OMIM:615482	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:615482	CCNO	10309	HP:0000246	Sinusitis
OMIM:615482	CCNO	10309	HP:0012263	Immotile cilia
OMIM:615482	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DNAAF5	54919	HP:0000789	Infertility
OMIM:615482	DNAAF5	54919	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:615482	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
OMIM:615482	DNAAF5	54919	HP:0003593	Infantile onset
OMIM:615482	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:615482	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:615482	DNAAF5	54919	HP:0012263	Immotile cilia
OMIM:615482	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DNAAF3	352909	HP:0000789	Infertility
OMIM:615482	DNAAF3	352909	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:615482	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:615482	DNAAF3	352909	HP:0003593	Infantile onset
OMIM:615482	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:615482	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:615482	DNAAF3	352909	HP:0012263	Immotile cilia
OMIM:615482	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DNAI1	27019	HP:0000789	Infertility
OMIM:615482	DNAI1	27019	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:615482	DNAI1	27019	HP:0002205	Recurrent respiratory infections
OMIM:615482	DNAI1	27019	HP:0003593	Infantile onset
OMIM:615482	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:615482	DNAI1	27019	HP:0000246	Sinusitis
OMIM:615482	DNAI1	27019	HP:0012263	Immotile cilia
OMIM:615482	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DRC1	92749	HP:0000789	Infertility
OMIM:615482	DRC1	92749	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:615482	DRC1	92749	HP:0002205	Recurrent respiratory infections
OMIM:615482	DRC1	92749	HP:0003593	Infantile onset
OMIM:615482	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:615482	DRC1	92749	HP:0000246	Sinusitis
OMIM:615482	DRC1	92749	HP:0012263	Immotile cilia
OMIM:615482	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:615482	SPAG1	6674	HP:0000789	Infertility
OMIM:615482	SPAG1	6674	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:615482	SPAG1	6674	HP:0002205	Recurrent respiratory infections
OMIM:615482	SPAG1	6674	HP:0003593	Infantile onset
OMIM:615482	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:615482	SPAG1	6674	HP:0000246	Sinusitis
OMIM:615482	SPAG1	6674	HP:0012263	Immotile cilia
OMIM:615482	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:615482	RSPH3	83861	HP:0000789	Infertility
OMIM:615482	RSPH3	83861	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:615482	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:615482	RSPH3	83861	HP:0003593	Infantile onset
OMIM:615482	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:615482	RSPH3	83861	HP:0000246	Sinusitis
OMIM:615482	RSPH3	83861	HP:0012263	Immotile cilia
OMIM:615482	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615482	RPGR	6103	HP:0000789	Infertility
OMIM:615482	RPGR	6103	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:615482	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:615482	RPGR	6103	HP:0003593	Infantile onset
OMIM:615482	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:615482	RPGR	6103	HP:0000246	Sinusitis
OMIM:615482	RPGR	6103	HP:0012263	Immotile cilia
OMIM:615482	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:615482	LRRC6	23639	HP:0000789	Infertility
OMIM:615482	LRRC6	23639	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:615482	LRRC6	23639	HP:0002205	Recurrent respiratory infections
OMIM:615482	LRRC6	23639	HP:0003593	Infantile onset
OMIM:615482	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:615482	LRRC6	23639	HP:0000246	Sinusitis
OMIM:615482	LRRC6	23639	HP:0012263	Immotile cilia
OMIM:615482	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DNAL1	83544	HP:0000789	Infertility
OMIM:615482	DNAL1	83544	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:615482	DNAL1	83544	HP:0002205	Recurrent respiratory infections
OMIM:615482	DNAL1	83544	HP:0003593	Infantile onset
OMIM:615482	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:615482	DNAL1	83544	HP:0000246	Sinusitis
OMIM:615482	DNAL1	83544	HP:0012263	Immotile cilia
OMIM:615482	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:615482	ARMC4	55130	HP:0000789	Infertility
OMIM:615482	ARMC4	55130	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:615482	ARMC4	55130	HP:0002205	Recurrent respiratory infections
OMIM:615482	ARMC4	55130	HP:0003593	Infantile onset
OMIM:615482	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:615482	ARMC4	55130	HP:0000246	Sinusitis
OMIM:615482	ARMC4	55130	HP:0012263	Immotile cilia
OMIM:615482	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:615482	CCDC103	388389	HP:0000789	Infertility
OMIM:615482	CCDC103	388389	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:615482	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:615482	CCDC103	388389	HP:0003593	Infantile onset
OMIM:615482	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:615482	CCDC103	388389	HP:0000246	Sinusitis
OMIM:615482	CCDC103	388389	HP:0012263	Immotile cilia
OMIM:615482	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615482	OFD1	8481	HP:0000789	Infertility
OMIM:615482	OFD1	8481	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:615482	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:615482	OFD1	8481	HP:0003593	Infantile onset
OMIM:615482	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:615482	OFD1	8481	HP:0000246	Sinusitis
OMIM:615482	OFD1	8481	HP:0012263	Immotile cilia
OMIM:615482	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DNAAF1	123872	HP:0000789	Infertility
OMIM:615482	DNAAF1	123872	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:615482	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
OMIM:615482	DNAAF1	123872	HP:0003593	Infantile onset
OMIM:615482	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:615482	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:615482	DNAAF1	123872	HP:0012263	Immotile cilia
OMIM:615482	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:615482	RSPH4A	345895	HP:0000789	Infertility
OMIM:615482	RSPH4A	345895	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:615482	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
OMIM:615482	RSPH4A	345895	HP:0003593	Infantile onset
OMIM:615482	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:615482	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:615482	RSPH4A	345895	HP:0012263	Immotile cilia
OMIM:615482	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:615482	RSPH1	89765	HP:0000789	Infertility
OMIM:615482	RSPH1	89765	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:615482	RSPH1	89765	HP:0002205	Recurrent respiratory infections
OMIM:615482	RSPH1	89765	HP:0003593	Infantile onset
OMIM:615482	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:615482	RSPH1	89765	HP:0000246	Sinusitis
OMIM:615482	RSPH1	89765	HP:0012263	Immotile cilia
OMIM:615482	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:615482	ZMYND10	51364	HP:0000789	Infertility
OMIM:615482	ZMYND10	51364	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:615482	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
OMIM:615482	ZMYND10	51364	HP:0003593	Infantile onset
OMIM:615482	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:615482	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:615482	ZMYND10	51364	HP:0012263	Immotile cilia
OMIM:615482	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DNAH5	1767	HP:0000789	Infertility
OMIM:615482	DNAH5	1767	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:615482	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:615482	DNAH5	1767	HP:0003593	Infantile onset
OMIM:615482	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:615482	DNAH5	1767	HP:0000246	Sinusitis
OMIM:615482	DNAH5	1767	HP:0012263	Immotile cilia
OMIM:615482	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:615482	CCDC65	85478	HP:0000789	Infertility
OMIM:615482	CCDC65	85478	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:615482	CCDC65	85478	HP:0002205	Recurrent respiratory infections
OMIM:615482	CCDC65	85478	HP:0003593	Infantile onset
OMIM:615482	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:615482	CCDC65	85478	HP:0000246	Sinusitis
OMIM:615482	CCDC65	85478	HP:0012263	Immotile cilia
OMIM:615482	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:615482	C21ORF59	56683	HP:0000789	Infertility
OMIM:615482	C21ORF59	56683	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:615482	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
OMIM:615482	C21ORF59	56683	HP:0003593	Infantile onset
OMIM:615482	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:615482	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:615482	C21ORF59	56683	HP:0012263	Immotile cilia
OMIM:615482	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DYX1C1	161582	HP:0000789	Infertility
OMIM:615482	DYX1C1	161582	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:615482	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
OMIM:615482	DYX1C1	161582	HP:0003593	Infantile onset
OMIM:615482	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:615482	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:615482	DYX1C1	161582	HP:0012263	Immotile cilia
OMIM:615482	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:615482	CCDC151	115948	HP:0000789	Infertility
OMIM:615482	CCDC151	115948	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:615482	CCDC151	115948	HP:0002205	Recurrent respiratory infections
OMIM:615482	CCDC151	115948	HP:0003593	Infantile onset
OMIM:615482	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:615482	CCDC151	115948	HP:0000246	Sinusitis
OMIM:615482	CCDC151	115948	HP:0012263	Immotile cilia
OMIM:615482	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:615482	RSPH9	221421	HP:0000789	Infertility
OMIM:615482	RSPH9	221421	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:615482	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:615482	RSPH9	221421	HP:0003593	Infantile onset
OMIM:615482	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:615482	RSPH9	221421	HP:0000246	Sinusitis
OMIM:615482	RSPH9	221421	HP:0012263	Immotile cilia
OMIM:615482	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:615482	CCDC39	339829	HP:0000789	Infertility
OMIM:615482	CCDC39	339829	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:615482	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:615482	CCDC39	339829	HP:0003593	Infantile onset
OMIM:615482	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:615482	CCDC39	339829	HP:0000246	Sinusitis
OMIM:615482	CCDC39	339829	HP:0012263	Immotile cilia
OMIM:615482	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:615482	HYDIN	54768	HP:0000789	Infertility
OMIM:615482	HYDIN	54768	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:615482	HYDIN	54768	HP:0002205	Recurrent respiratory infections
OMIM:615482	HYDIN	54768	HP:0003593	Infantile onset
OMIM:615482	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:615482	HYDIN	54768	HP:0000246	Sinusitis
OMIM:615482	HYDIN	54768	HP:0012263	Immotile cilia
OMIM:615482	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:615482	CCDC114	93233	HP:0000789	Infertility
OMIM:615482	CCDC114	93233	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:615482	CCDC114	93233	HP:0002205	Recurrent respiratory infections
OMIM:615482	CCDC114	93233	HP:0003593	Infantile onset
OMIM:615482	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:615482	CCDC114	93233	HP:0000246	Sinusitis
OMIM:615482	CCDC114	93233	HP:0012263	Immotile cilia
OMIM:615482	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:615482	NME8	51314	HP:0000789	Infertility
OMIM:615482	NME8	51314	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:615482	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:615482	NME8	51314	HP:0003593	Infantile onset
OMIM:615482	NME8	51314	HP:0002110	Bronchiectasis
OMIM:615482	NME8	51314	HP:0000246	Sinusitis
OMIM:615482	NME8	51314	HP:0012263	Immotile cilia
OMIM:615482	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:615482	CCDC40	55036	HP:0000789	Infertility
OMIM:615482	CCDC40	55036	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:615482	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:615482	CCDC40	55036	HP:0003593	Infantile onset
OMIM:615482	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:615482	CCDC40	55036	HP:0000246	Sinusitis
OMIM:615482	CCDC40	55036	HP:0012263	Immotile cilia
OMIM:615482	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DNAH11	8701	HP:0000789	Infertility
OMIM:615482	DNAH11	8701	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:615482	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:615482	DNAH11	8701	HP:0003593	Infantile onset
OMIM:615482	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:615482	DNAH11	8701	HP:0000246	Sinusitis
OMIM:615482	DNAH11	8701	HP:0012263	Immotile cilia
OMIM:615482	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:615482	DNAI2	64446	HP:0000789	Infertility
OMIM:615482	DNAI2	64446	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:615482	DNAI2	64446	HP:0002205	Recurrent respiratory infections
OMIM:615482	DNAI2	64446	HP:0003593	Infantile onset
OMIM:615482	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:615482	DNAI2	64446	HP:0000246	Sinusitis
OMIM:615482	DNAI2	64446	HP:0012263	Immotile cilia
OMIM:615482	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:615482	GAS8	2622	HP:0000789	Infertility
OMIM:615482	GAS8	2622	HP:0006510	Chronic obstructive pulmonary disease
OMIM:615482	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:615482	GAS8	2622	HP:0002205	Recurrent respiratory infections
OMIM:615482	GAS8	2622	HP:0003593	Infantile onset
OMIM:615482	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:615482	GAS8	2622	HP:0000246	Sinusitis
OMIM:615482	GAS8	2622	HP:0012263	Immotile cilia
OMIM:614432	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:614432	NKX2-5	1482	HP:0001629	Ventricular septal defect
OMIM:614432	NKX2-5	1482	HP:0004415	Pulmonary artery stenosis
OMIM:614432	NKX2-5	1482	HP:0001643	Patent ductus arteriosus
OMIM:614432	NKX2-5	1482	HP:0001631	Atria septal defect
OMIM:613790	C5	727	HP:0000007	Autosomal recessive inheritance
OMIM:613790	C5	727	HP:0002725	Systemic lupus erythematosus
OMIM:613790	C5	727	HP:0004434	C8 deficiency
OMIM:613790	C5	727	HP:0001287	Meningitis
OMIM:613790	C6	729	HP:0000007	Autosomal recessive inheritance
OMIM:613790	C6	729	HP:0002725	Systemic lupus erythematosus
OMIM:613790	C6	729	HP:0004434	C8 deficiency
OMIM:613790	C6	729	HP:0001287	Meningitis
OMIM:613790	C7	730	HP:0000007	Autosomal recessive inheritance
OMIM:613790	C7	730	HP:0002725	Systemic lupus erythematosus
OMIM:613790	C7	730	HP:0004434	C8 deficiency
OMIM:613790	C7	730	HP:0001287	Meningitis
OMIM:613790	C8A	731	HP:0000007	Autosomal recessive inheritance
OMIM:613790	C8A	731	HP:0002725	Systemic lupus erythematosus
OMIM:613790	C8A	731	HP:0004434	C8 deficiency
OMIM:613790	C8A	731	HP:0001287	Meningitis
OMIM:613790	C8B	732	HP:0000007	Autosomal recessive inheritance
OMIM:613790	C8B	732	HP:0002725	Systemic lupus erythematosus
OMIM:613790	C8B	732	HP:0004434	C8 deficiency
OMIM:613790	C8B	732	HP:0001287	Meningitis
OMIM:613790	C8G	733	HP:0000007	Autosomal recessive inheritance
OMIM:613790	C8G	733	HP:0002725	Systemic lupus erythematosus
OMIM:613790	C8G	733	HP:0004434	C8 deficiency
OMIM:613790	C8G	733	HP:0001287	Meningitis
OMIM:613790	C9	735	HP:0000007	Autosomal recessive inheritance
OMIM:613790	C9	735	HP:0002725	Systemic lupus erythematosus
OMIM:613790	C9	735	HP:0004434	C8 deficiency
OMIM:613790	C9	735	HP:0001287	Meningitis
OMIM:611174	IRX5	10265	HP:0000369	Low-set ears
OMIM:611174	IRX5	10265	HP:0000689	Dental malocclusion
OMIM:611174	IRX5	10265	HP:0002015	Dysphagia
OMIM:611174	IRX5	10265	HP:0001363	Craniosynostosis
OMIM:611174	IRX5	10265	HP:0000343	Long philtrum
OMIM:611174	IRX5	10265	HP:0000319	Smooth philtrum
OMIM:611174	IRX5	10265	HP:0010511	Long toe
OMIM:611174	IRX5	10265	HP:0200021	Down-sloping shoulders
OMIM:611174	IRX5	10265	HP:0000465	Webbed neck
OMIM:611174	IRX5	10265	HP:0000767	Pectus excavatum
OMIM:611174	IRX5	10265	HP:0000431	Wide nasal bridge
OMIM:611174	IRX5	10265	HP:0005338	Sparse lateral eyebrow
OMIM:611174	IRX5	10265	HP:0002376	Developmental regression
OMIM:611174	IRX5	10265	HP:0000218	High palate
OMIM:611174	IRX5	10265	HP:0000829	Hypoparathyroidism
OMIM:611174	IRX5	10265	HP:0000248	Brachycephaly
OMIM:611174	IRX5	10265	HP:0000384	Preauricular skin tag
OMIM:611174	IRX5	10265	HP:0001653	Mitral regurgitation
OMIM:611174	IRX5	10265	HP:0001159	Syndactyly
OMIM:611174	IRX5	10265	HP:0000028	Cryptorchidism
OMIM:611174	IRX5	10265	HP:0000154	Wide mouth
OMIM:611174	IRX5	10265	HP:0001931	Hypochromic anemia
OMIM:611174	IRX5	10265	HP:0000407	Sensorineural hearing impairment
OMIM:611174	IRX5	10265	HP:0011003	Severe Myopia
OMIM:611174	IRX5	10265	HP:0001385	Hip dysplasia
OMIM:611174	IRX5	10265	HP:0000668	Hypodontia
OMIM:611174	IRX5	10265	HP:0001631	Atria septal defect
OMIM:611174	IRX5	10265	HP:0000316	Hypertelorism
OMIM:611174	IRX5	10265	HP:0002162	Low posterior hairline
OMIM:611174	IRX5	10265	HP:0000023	Inguinal hernia
OMIM:611174	IRX5	10265	HP:0000463	Anteverted nares
OMIM:611174	IRX5	10265	HP:0000007	Autosomal recessive inheritance
OMIM:611174	IRX5	10265	HP:0001182	Tapered finger
OMIM:611174	IRX5	10265	HP:0000938	Osteopenia
OMIM:120433	YAP1	10413	HP:0000508	Ptosis
OMIM:120433	YAP1	10413	HP:0000501	Glaucoma
OMIM:120433	YAP1	10413	HP:0001249	Intellectual disability
OMIM:120433	YAP1	10413	HP:0000202	Oral cleft
OMIM:120433	YAP1	10413	HP:0000175	Cleft palate
OMIM:120433	YAP1	10413	HP:0000790	Hematuria
OMIM:120433	YAP1	10413	HP:0007759	Opacification of the corneal stroma
OMIM:120433	YAP1	10413	HP:0000486	Strabismus
OMIM:120433	YAP1	10413	HP:0000505	Visual impairment
OMIM:120433	YAP1	10413	HP:0000407	Sensorineural hearing impairment
OMIM:120433	YAP1	10413	HP:0000204	Cleft upper lip
OMIM:120433	YAP1	10413	HP:0000518	Cataract
OMIM:120433	YAP1	10413	HP:0000639	Nystagmus
OMIM:120433	YAP1	10413	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:120433	YAP1	10413	HP:0000627	Posterior embryotoxon
OMIM:120433	YAP1	10413	HP:0000567	Chorioretinal coloboma
OMIM:120433	YAP1	10413	HP:0000612	Iris coloboma
OMIM:120433	YAP1	10413	HP:0100543	Cognitive impairment
OMIM:120433	YAP1	10413	HP:0000568	Microphthalmia
OMIM:120433	YAP1	10413	HP:0000541	Retinal detachment
OMIM:120433	YAP1	10413	HP:0000006	Autosomal dominant inheritance
OMIM:120433	YAP1	10413	HP:0000648	Optic atrophy
OMIM:612674	ABHD12	26090	HP:0003677	Slow progression
OMIM:612674	ABHD12	26090	HP:0003674	Onset
OMIM:612674	ABHD12	26090	HP:0001260	Dysarthria
OMIM:612674	ABHD12	26090	HP:0001761	Pes cavus
OMIM:612674	ABHD12	26090	HP:0000407	Sensorineural hearing impairment
OMIM:612674	ABHD12	26090	HP:0001310	Dysmetria
OMIM:612674	ABHD12	26090	HP:0000523	Subcapsular cataract
OMIM:612674	ABHD12	26090	HP:0001257	Spasticity
OMIM:612674	ABHD12	26090	HP:0000510	Rod-cone dystrophy
OMIM:612674	ABHD12	26090	HP:0001272	Cerebellar atrophy
OMIM:612674	ABHD12	26090	HP:0003693	Distal amyotrophy
OMIM:612674	ABHD12	26090	HP:0001347	Hyperreflexia
OMIM:612674	ABHD12	26090	HP:0000648	Optic atrophy
OMIM:612674	ABHD12	26090	HP:0002936	Distal sensory impairment
OMIM:612674	ABHD12	26090	HP:0000007	Autosomal recessive inheritance
OMIM:612674	ABHD12	26090	HP:0001265	Hyporeflexia
OMIM:612674	ABHD12	26090	HP:0001771	Achilles tendon contracture
OMIM:612674	ABHD12	26090	HP:0007141	Sensorimotor neuropathy
OMIM:612674	ABHD12	26090	HP:0003487	Babinski sign
OMIM:612674	ABHD12	26090	HP:0000639	Nystagmus
OMIM:612674	ABHD12	26090	HP:0001271	Polyneuropathy
OMIM:612674	ABHD12	26090	HP:0003812	Phenotypic variability
OMIM:612674	ABHD12	26090	HP:0000762	Decreased nerve conduction velocity
OMIM:615352	GMPPB	29925	HP:0003546	Exercise intolerance
OMIM:615352	GMPPB	29925	HP:0002093	Respiratory insufficiency
OMIM:615352	GMPPB	29925	HP:0003560	Muscular dystrophy
OMIM:615352	GMPPB	29925	HP:0000252	Microcephaly
OMIM:615352	GMPPB	29925	HP:0000639	Nystagmus
OMIM:615352	GMPPB	29925	HP:0001256	Intellectual disability, mild
OMIM:615352	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615352	GMPPB	29925	HP:0000518	Cataract
OMIM:615352	GMPPB	29925	HP:0001250	Seizures
OMIM:615352	GMPPB	29925	HP:0001324	Muscle weakness
OMIM:615352	GMPPB	29925	HP:0003812	Phenotypic variability
OMIM:615352	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:615352	GMPPB	29925	HP:0001638	Cardiomyopathy
OMIM:615352	GMPPB	29925	HP:0001252	Muscular hypotonia
OMIM:615633	TTC21B	79809	HP:0000028	Cryptorchidism
OMIM:615633	TTC21B	79809	HP:0001513	Obesity
OMIM:615633	TTC21B	79809	HP:0000121	Nephrocalcinosis
OMIM:615633	TTC21B	79809	HP:0000510	Rod-cone dystrophy
OMIM:615633	TTC21B	79809	HP:0001156	Brachydactyly syndrome
OMIM:615633	TTC21B	79809	HP:0100259	Postaxial polydactyly
OMIM:615633	TTC21B	79809	HP:0000007	Autosomal recessive inheritance
OMIM:615633	TTC21B	79809	HP:0002205	Recurrent respiratory infections
OMIM:615633	TTC21B	79809	HP:0001591	Bell-shaped thorax
OMIM:615633	TTC21B	79809	HP:0000750	Delayed speech and language development
OMIM:615633	TTC21B	79809	HP:0001561	Polyhydramnios
OMIM:615633	TTC21B	79809	HP:0002093	Respiratory insufficiency
OMIM:615633	TTC21B	79809	HP:0000774	Narrow chest
OMIM:615633	TTC21B	79809	HP:0003026	Short long bone
OMIM:615633	WDR19	57728	HP:0000028	Cryptorchidism
OMIM:615633	WDR19	57728	HP:0001513	Obesity
OMIM:615633	WDR19	57728	HP:0000121	Nephrocalcinosis
OMIM:615633	WDR19	57728	HP:0000510	Rod-cone dystrophy
OMIM:615633	WDR19	57728	HP:0001156	Brachydactyly syndrome
OMIM:615633	WDR19	57728	HP:0100259	Postaxial polydactyly
OMIM:615633	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:615633	WDR19	57728	HP:0002205	Recurrent respiratory infections
OMIM:615633	WDR19	57728	HP:0001591	Bell-shaped thorax
OMIM:615633	WDR19	57728	HP:0000750	Delayed speech and language development
OMIM:615633	WDR19	57728	HP:0001561	Polyhydramnios
OMIM:615633	WDR19	57728	HP:0002093	Respiratory insufficiency
OMIM:615633	WDR19	57728	HP:0000774	Narrow chest
OMIM:615633	WDR19	57728	HP:0003026	Short long bone
OMIM:615633	IFT172	26160	HP:0000028	Cryptorchidism
OMIM:615633	IFT172	26160	HP:0001513	Obesity
OMIM:615633	IFT172	26160	HP:0000121	Nephrocalcinosis
OMIM:615633	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615633	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:615633	IFT172	26160	HP:0100259	Postaxial polydactyly
OMIM:615633	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:615633	IFT172	26160	HP:0002205	Recurrent respiratory infections
OMIM:615633	IFT172	26160	HP:0001591	Bell-shaped thorax
OMIM:615633	IFT172	26160	HP:0000750	Delayed speech and language development
OMIM:615633	IFT172	26160	HP:0001561	Polyhydramnios
OMIM:615633	IFT172	26160	HP:0002093	Respiratory insufficiency
OMIM:615633	IFT172	26160	HP:0000774	Narrow chest
OMIM:615633	IFT172	26160	HP:0003026	Short long bone
OMIM:615633	WDR34	89891	HP:0000028	Cryptorchidism
OMIM:615633	WDR34	89891	HP:0001513	Obesity
OMIM:615633	WDR34	89891	HP:0000121	Nephrocalcinosis
OMIM:615633	WDR34	89891	HP:0000510	Rod-cone dystrophy
OMIM:615633	WDR34	89891	HP:0001156	Brachydactyly syndrome
OMIM:615633	WDR34	89891	HP:0100259	Postaxial polydactyly
OMIM:615633	WDR34	89891	HP:0000007	Autosomal recessive inheritance
OMIM:615633	WDR34	89891	HP:0002205	Recurrent respiratory infections
OMIM:615633	WDR34	89891	HP:0001591	Bell-shaped thorax
OMIM:615633	WDR34	89891	HP:0000750	Delayed speech and language development
OMIM:615633	WDR34	89891	HP:0001561	Polyhydramnios
OMIM:615633	WDR34	89891	HP:0002093	Respiratory insufficiency
OMIM:615633	WDR34	89891	HP:0000774	Narrow chest
OMIM:615633	WDR34	89891	HP:0003026	Short long bone
OMIM:615633	WDR35	57539	HP:0000028	Cryptorchidism
OMIM:615633	WDR35	57539	HP:0001513	Obesity
OMIM:615633	WDR35	57539	HP:0000121	Nephrocalcinosis
OMIM:615633	WDR35	57539	HP:0000510	Rod-cone dystrophy
OMIM:615633	WDR35	57539	HP:0001156	Brachydactyly syndrome
OMIM:615633	WDR35	57539	HP:0100259	Postaxial polydactyly
OMIM:615633	WDR35	57539	HP:0000007	Autosomal recessive inheritance
OMIM:615633	WDR35	57539	HP:0002205	Recurrent respiratory infections
OMIM:615633	WDR35	57539	HP:0001591	Bell-shaped thorax
OMIM:615633	WDR35	57539	HP:0000750	Delayed speech and language development
OMIM:615633	WDR35	57539	HP:0001561	Polyhydramnios
OMIM:615633	WDR35	57539	HP:0002093	Respiratory insufficiency
OMIM:615633	WDR35	57539	HP:0000774	Narrow chest
OMIM:615633	WDR35	57539	HP:0003026	Short long bone
OMIM:615633	IFT80	57560	HP:0000028	Cryptorchidism
OMIM:615633	IFT80	57560	HP:0001513	Obesity
OMIM:615633	IFT80	57560	HP:0000121	Nephrocalcinosis
OMIM:615633	IFT80	57560	HP:0000510	Rod-cone dystrophy
OMIM:615633	IFT80	57560	HP:0001156	Brachydactyly syndrome
OMIM:615633	IFT80	57560	HP:0100259	Postaxial polydactyly
OMIM:615633	IFT80	57560	HP:0000007	Autosomal recessive inheritance
OMIM:615633	IFT80	57560	HP:0002205	Recurrent respiratory infections
OMIM:615633	IFT80	57560	HP:0001591	Bell-shaped thorax
OMIM:615633	IFT80	57560	HP:0000750	Delayed speech and language development
OMIM:615633	IFT80	57560	HP:0001561	Polyhydramnios
OMIM:615633	IFT80	57560	HP:0002093	Respiratory insufficiency
OMIM:615633	IFT80	57560	HP:0000774	Narrow chest
OMIM:615633	IFT80	57560	HP:0003026	Short long bone
OMIM:615633	WDR60	55112	HP:0000028	Cryptorchidism
OMIM:615633	WDR60	55112	HP:0001513	Obesity
OMIM:615633	WDR60	55112	HP:0000121	Nephrocalcinosis
OMIM:615633	WDR60	55112	HP:0000510	Rod-cone dystrophy
OMIM:615633	WDR60	55112	HP:0001156	Brachydactyly syndrome
OMIM:615633	WDR60	55112	HP:0100259	Postaxial polydactyly
OMIM:615633	WDR60	55112	HP:0000007	Autosomal recessive inheritance
OMIM:615633	WDR60	55112	HP:0002205	Recurrent respiratory infections
OMIM:615633	WDR60	55112	HP:0001591	Bell-shaped thorax
OMIM:615633	WDR60	55112	HP:0000750	Delayed speech and language development
OMIM:615633	WDR60	55112	HP:0001561	Polyhydramnios
OMIM:615633	WDR60	55112	HP:0002093	Respiratory insufficiency
OMIM:615633	WDR60	55112	HP:0000774	Narrow chest
OMIM:615633	WDR60	55112	HP:0003026	Short long bone
OMIM:615633	DYNC2H1	79659	HP:0000028	Cryptorchidism
OMIM:615633	DYNC2H1	79659	HP:0001513	Obesity
OMIM:615633	DYNC2H1	79659	HP:0000121	Nephrocalcinosis
OMIM:615633	DYNC2H1	79659	HP:0000510	Rod-cone dystrophy
OMIM:615633	DYNC2H1	79659	HP:0001156	Brachydactyly syndrome
OMIM:615633	DYNC2H1	79659	HP:0100259	Postaxial polydactyly
OMIM:615633	DYNC2H1	79659	HP:0000007	Autosomal recessive inheritance
OMIM:615633	DYNC2H1	79659	HP:0002205	Recurrent respiratory infections
OMIM:615633	DYNC2H1	79659	HP:0001591	Bell-shaped thorax
OMIM:615633	DYNC2H1	79659	HP:0000750	Delayed speech and language development
OMIM:615633	DYNC2H1	79659	HP:0001561	Polyhydramnios
OMIM:615633	DYNC2H1	79659	HP:0002093	Respiratory insufficiency
OMIM:615633	DYNC2H1	79659	HP:0000774	Narrow chest
OMIM:615633	DYNC2H1	79659	HP:0003026	Short long bone
OMIM:615633	CEP120	153241	HP:0000028	Cryptorchidism
OMIM:615633	CEP120	153241	HP:0001513	Obesity
OMIM:615633	CEP120	153241	HP:0000121	Nephrocalcinosis
OMIM:615633	CEP120	153241	HP:0000510	Rod-cone dystrophy
OMIM:615633	CEP120	153241	HP:0001156	Brachydactyly syndrome
OMIM:615633	CEP120	153241	HP:0100259	Postaxial polydactyly
OMIM:615633	CEP120	153241	HP:0000007	Autosomal recessive inheritance
OMIM:615633	CEP120	153241	HP:0002205	Recurrent respiratory infections
OMIM:615633	CEP120	153241	HP:0001591	Bell-shaped thorax
OMIM:615633	CEP120	153241	HP:0000750	Delayed speech and language development
OMIM:615633	CEP120	153241	HP:0001561	Polyhydramnios
OMIM:615633	CEP120	153241	HP:0002093	Respiratory insufficiency
OMIM:615633	CEP120	153241	HP:0000774	Narrow chest
OMIM:615633	CEP120	153241	HP:0003026	Short long bone
OMIM:615633	IFT140	9742	HP:0000028	Cryptorchidism
OMIM:615633	IFT140	9742	HP:0001513	Obesity
OMIM:615633	IFT140	9742	HP:0000121	Nephrocalcinosis
OMIM:615633	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:615633	IFT140	9742	HP:0001156	Brachydactyly syndrome
OMIM:615633	IFT140	9742	HP:0100259	Postaxial polydactyly
OMIM:615633	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:615633	IFT140	9742	HP:0002205	Recurrent respiratory infections
OMIM:615633	IFT140	9742	HP:0001591	Bell-shaped thorax
OMIM:615633	IFT140	9742	HP:0000750	Delayed speech and language development
OMIM:615633	IFT140	9742	HP:0001561	Polyhydramnios
OMIM:615633	IFT140	9742	HP:0002093	Respiratory insufficiency
OMIM:615633	IFT140	9742	HP:0000774	Narrow chest
OMIM:615633	IFT140	9742	HP:0003026	Short long bone
OMIM:257920	MASP1	5648	HP:0002558	Supernumerary nipple
OMIM:257920	MASP1	5648	HP:0000593	Abnormality of the anterior chamber
OMIM:257920	MASP1	5648	HP:0000496	Abnormality of eye movement
OMIM:257920	MASP1	5648	HP:0004209	Clinodactyly of the 5th finger
OMIM:257920	MASP1	5648	HP:0001773	Short foot
OMIM:257920	MASP1	5648	HP:0000252	Microcephaly
OMIM:257920	MASP1	5648	HP:0001539	Omphalocele
OMIM:257920	MASP1	5648	HP:0004443	Lambdoidal craniosynostosis
OMIM:257920	MASP1	5648	HP:0000405	Conductive hearing impairment
OMIM:257920	MASP1	5648	HP:0009891	Underdeveloped supraorbital ridges
OMIM:257920	MASP1	5648	HP:0008897	Postnatal growth retardation
OMIM:257920	MASP1	5648	HP:0000508	Ptosis
OMIM:257920	MASP1	5648	HP:0000204	Cleft upper lip
OMIM:257920	MASP1	5648	HP:0001256	Intellectual disability, mild
OMIM:257920	MASP1	5648	HP:0000960	Sacral dimple
OMIM:257920	MASP1	5648	HP:0000501	Glaucoma
OMIM:257920	MASP1	5648	HP:0002553	Highly arched eyebrow
OMIM:257920	MASP1	5648	HP:0000007	Autosomal recessive inheritance
OMIM:257920	MASP1	5648	HP:0009237	Short 5th finger
OMIM:257920	MASP1	5648	HP:0000678	Dental crowding
OMIM:257920	MASP1	5648	HP:0000316	Hypertelorism
OMIM:257920	MASP1	5648	HP:0000581	Blepharophimosis
OMIM:257920	MASP1	5648	HP:0004440	Coronal craniosynostosis
OMIM:257920	MASP1	5648	HP:0003298	Spina bifida occulta
OMIM:257920	MASP1	5648	HP:0000126	Hydronephrosis
OMIM:257920	MASP1	5648	HP:0002974	Radioulnar synostosis
OMIM:257920	MASP1	5648	HP:0006216	Single interphalangeal crease of fifth finger
OMIM:257920	MASP1	5648	HP:0000175	Cleft palate
OMIM:257920	MASP1	5648	HP:0001510	Growth delay
OMIM:257920	COLEC11	78989	HP:0002558	Supernumerary nipple
OMIM:257920	COLEC11	78989	HP:0000593	Abnormality of the anterior chamber
OMIM:257920	COLEC11	78989	HP:0000496	Abnormality of eye movement
OMIM:257920	COLEC11	78989	HP:0004209	Clinodactyly of the 5th finger
OMIM:257920	COLEC11	78989	HP:0001773	Short foot
OMIM:257920	COLEC11	78989	HP:0000252	Microcephaly
OMIM:257920	COLEC11	78989	HP:0001539	Omphalocele
OMIM:257920	COLEC11	78989	HP:0004443	Lambdoidal craniosynostosis
OMIM:257920	COLEC11	78989	HP:0000405	Conductive hearing impairment
OMIM:257920	COLEC11	78989	HP:0009891	Underdeveloped supraorbital ridges
OMIM:257920	COLEC11	78989	HP:0008897	Postnatal growth retardation
OMIM:257920	COLEC11	78989	HP:0000508	Ptosis
OMIM:257920	COLEC11	78989	HP:0000204	Cleft upper lip
OMIM:257920	COLEC11	78989	HP:0001256	Intellectual disability, mild
OMIM:257920	COLEC11	78989	HP:0000960	Sacral dimple
OMIM:257920	COLEC11	78989	HP:0000501	Glaucoma
OMIM:257920	COLEC11	78989	HP:0002553	Highly arched eyebrow
OMIM:257920	COLEC11	78989	HP:0000007	Autosomal recessive inheritance
OMIM:257920	COLEC11	78989	HP:0009237	Short 5th finger
OMIM:257920	COLEC11	78989	HP:0000678	Dental crowding
OMIM:257920	COLEC11	78989	HP:0000316	Hypertelorism
OMIM:257920	COLEC11	78989	HP:0000581	Blepharophimosis
OMIM:257920	COLEC11	78989	HP:0004440	Coronal craniosynostosis
OMIM:257920	COLEC11	78989	HP:0003298	Spina bifida occulta
OMIM:257920	COLEC11	78989	HP:0000126	Hydronephrosis
OMIM:257920	COLEC11	78989	HP:0002974	Radioulnar synostosis
OMIM:257920	COLEC11	78989	HP:0006216	Single interphalangeal crease of fifth finger
OMIM:257920	COLEC11	78989	HP:0000175	Cleft palate
OMIM:257920	COLEC11	78989	HP:0001510	Growth delay
OMIM:222448	LRP2	4036	HP:0001338	Partial agenesis of the corpus callosum
OMIM:222448	LRP2	4036	HP:0005280	Depressed nasal bridge
OMIM:222448	LRP2	4036	HP:0000541	Retinal detachment
OMIM:222448	LRP2	4036	HP:0001250	Seizures
OMIM:222448	LRP2	4036	HP:0000256	Macrocephaly
OMIM:222448	LRP2	4036	HP:0003196	Short nose
OMIM:222448	LRP2	4036	HP:0011800	Hypoplasia of midface
OMIM:222448	LRP2	4036	HP:0000316	Hypertelorism
OMIM:222448	LRP2	4036	HP:0002566	Intestinal malrotation
OMIM:222448	LRP2	4036	HP:0000455	Broad nasal tip
OMIM:222448	LRP2	4036	HP:0000776	Congenital diaphragmatic hernia
OMIM:222448	LRP2	4036	HP:0001539	Omphalocele
OMIM:222448	LRP2	4036	HP:0000272	Malar flattening
OMIM:222448	LRP2	4036	HP:0000518	Cataract
OMIM:222448	LRP2	4036	HP:0000407	Sensorineural hearing impairment
OMIM:222448	LRP2	4036	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:222448	LRP2	4036	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:222448	LRP2	4036	HP:0000612	Iris coloboma
OMIM:222448	LRP2	4036	HP:0000337	Broad forehead
OMIM:222448	LRP2	4036	HP:0000545	Myopia
OMIM:222448	LRP2	4036	HP:0000520	Proptosis
OMIM:222448	LRP2	4036	HP:0000813	Bicornuate uterus
OMIM:222448	LRP2	4036	HP:0009890	High anterior hairline
OMIM:222448	LRP2	4036	HP:0000368	Low-set, posteriorly rotated ears
OMIM:222448	LRP2	4036	HP:0000494	Downslanted palpebral fissures
OMIM:222448	LRP2	4036	HP:0000505	Visual impairment
OMIM:222448	LRP2	4036	HP:0001537	Umbilical hernia
OMIM:222448	LRP2	4036	HP:0000358	Posteriorly rotated ears
OMIM:222448	LRP2	4036	HP:0001629	Ventricular septal defect
OMIM:222448	LRP2	4036	HP:0000567	Chorioretinal coloboma
OMIM:222448	LRP2	4036	HP:0011003	Severe Myopia
OMIM:222448	LRP2	4036	HP:0000007	Autosomal recessive inheritance
OMIM:222448	LRP2	4036	HP:0001263	Global developmental delay
OMIM:222448	LRP2	4036	HP:0000369	Low-set ears
OMIM:222448	LRP2	4036	HP:0000529	Progressive visual loss
OMIM:222448	LRP2	4036	HP:0100543	Cognitive impairment
OMIM:222448	LRP2	4036	HP:0000093	Proteinuria
OMIM:222448	LRP2	4036	HP:0000556	Retinal dystrophy
OMIM:222448	LRP2	4036	HP:0000008	Abnormality of female internal genitalia
OMIM:245660	LAMA3	3909	HP:0001608	Abnormality of the voice
OMIM:245660	LAMA3	3909	HP:0000478	Abnormality of the eye
OMIM:245660	LAMA3	3909	HP:0002205	Recurrent respiratory infections
OMIM:245660	LAMA3	3909	HP:0200042	Skin ulcer
OMIM:245660	LAMA3	3909	HP:0002575	Tracheoesophageal fistula
OMIM:245660	LAMA3	3909	HP:0000682	Abnormality of dental enamel
OMIM:245660	LAMA3	3909	HP:0001231	Abnormality of the fingernails
OMIM:245660	LAMA3	3909	HP:0007759	Opacification of the corneal stroma
OMIM:245660	LAMA3	3909	HP:0003593	Infantile onset
OMIM:245660	LAMA3	3909	HP:0008388	Abnormality of the toenails
OMIM:245660	LAMA3	3909	HP:0001798	Anonychia
OMIM:245660	LAMA3	3909	HP:0002093	Respiratory insufficiency
OMIM:245660	LAMA3	3909	HP:0000007	Autosomal recessive inheritance
OMIM:203780	COL4A3	1285	HP:0003774	Stage 5 chronic kidney disease
OMIM:203780	COL4A3	1285	HP:0003676	Progressive
OMIM:203780	COL4A3	1285	HP:0000123	Nephritis
OMIM:203780	COL4A3	1285	HP:0000518	Cataract
OMIM:203780	COL4A3	1285	HP:0001425	Heterogeneous
OMIM:203780	COL4A3	1285	HP:0000100	Nephrotic syndrome
OMIM:203780	COL4A3	1285	HP:0000093	Proteinuria
OMIM:203780	COL4A3	1285	HP:0000007	Autosomal recessive inheritance
OMIM:203780	COL4A3	1285	HP:0000365	Hearing impairment
OMIM:203780	COL4A3	1285	HP:0000822	Hypertension
OMIM:203780	COL4A3	1285	HP:0000545	Myopia
OMIM:203780	COL4A3	1285	HP:0000790	Hematuria
OMIM:203780	COL4A4	1286	HP:0003774	Stage 5 chronic kidney disease
OMIM:203780	COL4A4	1286	HP:0003676	Progressive
OMIM:203780	COL4A4	1286	HP:0000123	Nephritis
OMIM:203780	COL4A4	1286	HP:0000518	Cataract
OMIM:203780	COL4A4	1286	HP:0001425	Heterogeneous
OMIM:203780	COL4A4	1286	HP:0000100	Nephrotic syndrome
OMIM:203780	COL4A4	1286	HP:0000093	Proteinuria
OMIM:203780	COL4A4	1286	HP:0000007	Autosomal recessive inheritance
OMIM:203780	COL4A4	1286	HP:0000365	Hearing impairment
OMIM:203780	COL4A4	1286	HP:0000822	Hypertension
OMIM:203780	COL4A4	1286	HP:0000545	Myopia
OMIM:203780	COL4A4	1286	HP:0000790	Hematuria
OMIM:185500	ELN	2006	HP:0000006	Autosomal dominant inheritance
OMIM:185500	ELN	2006	HP:0001642	Pulmonic stenosis
OMIM:185500	ELN	2006	HP:0004381	Supravalvular aortic stenosis
OMIM:185500	ELN	2006	HP:0011675	Arrhythmia
OMIM:185500	ELN	2006	HP:0004415	Pulmonary artery stenosis
OMIM:185500	ELN	2006	HP:0004928	Peripheral arterial stenosis
OMIM:226200	TMPRSS15	5651	HP:0002014	Diarrhea
OMIM:226200	TMPRSS15	5651	HP:0003075	Hypoproteinemia
OMIM:226200	TMPRSS15	5651	HP:0001508	Failure to thrive
OMIM:226200	TMPRSS15	5651	HP:0000007	Autosomal recessive inheritance
OMIM:614861	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:614861	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:614861	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:614861	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:614861	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:614861	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:614861	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:614861	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:614861	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:614861	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:614861	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:614861	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:614861	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:614861	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:614861	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:614861	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:614861	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:614861	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:614861	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:614861	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:614861	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:614861	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:614861	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:614861	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:614861	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:614861	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:614861	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:614861	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:614861	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:614861	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:614861	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:614861	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:614861	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:614861	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:614861	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:614861	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:614861	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:614861	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:614861	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:614861	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614861	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:614861	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:614861	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:614861	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:614861	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:614861	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:614861	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:614861	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:614861	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:614861	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:614861	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:614861	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:614861	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:614861	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614861	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:614861	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:614861	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:614861	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:614861	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:614861	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:614861	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:614861	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:614861	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:614861	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:614861	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:614861	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:614861	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:614861	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:614861	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:614861	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:614861	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:614861	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:614861	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:614861	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:614861	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:614861	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:614861	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:614861	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614861	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:614861	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:614861	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:614861	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:614861	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:614861	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:614861	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:614861	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:614861	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:614861	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:614861	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:614861	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:614861	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:614861	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:614861	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:614861	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:614861	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:614861	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:614861	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:614861	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:614861	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:614861	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:614861	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:614861	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:614861	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:614861	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614861	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:614861	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:614861	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:614861	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:614861	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:614861	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:614861	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:614861	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:614861	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:614861	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:614861	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:614861	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:614861	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:614861	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:614861	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:614861	OTOG	340990	HP:0000007	Autosomal recessive inheritance
ORPHANET:2322	KMT2D	8085	HP:0001679	Abnormality of the aorta
ORPHANET:2322	KMT2D	8085	HP:0000567	Chorioretinal coloboma
ORPHANET:2322	KMT2D	8085	HP:0002119	Ventriculomegaly
ORPHANET:2322	KMT2D	8085	HP:0000826	Precocious puberty
ORPHANET:2322	KMT2D	8085	HP:0001156	Brachydactyly syndrome
ORPHANET:2322	KMT2D	8085	HP:0000298	Mask-like facies
ORPHANET:2322	KMT2D	8085	HP:0005338	Sparse lateral eyebrow
ORPHANET:2322	KMT2D	8085	HP:0100335	Non-midline cleft lip
ORPHANET:2322	KMT2D	8085	HP:0100542	Abnormal localization of kidney
ORPHANET:2322	KMT2D	8085	HP:0000366	Abnormality of the nose
ORPHANET:2322	KMT2D	8085	HP:0000175	Cleft palate
ORPHANET:2322	KMT2D	8085	HP:0004279	Short palm
ORPHANET:2322	KMT2D	8085	HP:0001671	Abnormality of the cardiac septa
ORPHANET:2322	KMT2D	8085	HP:0000400	Macrotia
ORPHANET:2322	KMT2D	8085	HP:0000508	Ptosis
ORPHANET:2322	KMT2D	8085	HP:0000407	Sensorineural hearing impairment
ORPHANET:2322	KMT2D	8085	HP:0002120	Cerebral cortical atrophy
ORPHANET:2322	KMT2D	8085	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:2322	KMT2D	8085	HP:0002650	Scoliosis
ORPHANET:2322	KMT2D	8085	HP:0000691	Microdontia
ORPHANET:2322	KMT2D	8085	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2322	KMT2D	8085	HP:0001382	Joint hypermobility
ORPHANET:2322	KMT2D	8085	HP:0007477	Abnormal dermatoglyphics
ORPHANET:2322	KMT2D	8085	HP:0100543	Cognitive impairment
ORPHANET:2322	KMT2D	8085	HP:0000592	Blue sclerae
ORPHANET:2322	KMT2D	8085	HP:0003272	Abnormality of the hip bone
ORPHANET:2322	KMT2D	8085	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2322	KMT2D	8085	HP:0009804	Reduced number of teeth
ORPHANET:2322	KMT2D	8085	HP:0000405	Conductive hearing impairment
ORPHANET:2322	KMT2D	8085	HP:0000639	Nystagmus
ORPHANET:2322	KMT2D	8085	HP:0001513	Obesity
ORPHANET:2322	KMT2D	8085	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2322	KMT2D	8085	HP:0001252	Muscular hypotonia
ORPHANET:2322	KMT2D	8085	HP:0000028	Cryptorchidism
ORPHANET:2322	KMT2D	8085	HP:0000499	Abnormality of the eyelashes
ORPHANET:2322	KMT2D	8085	HP:0002553	Highly arched eyebrow
ORPHANET:2322	KMT2D	8085	HP:0000238	Hydrocephalus
ORPHANET:2322	KMT2D	8085	HP:0000486	Strabismus
ORPHANET:2322	KMT2D	8085	HP:0004322	Short stature
ORPHANET:2322	KMT2D	8085	HP:0000252	Microcephaly
ORPHANET:2322	KMT2D	8085	HP:0000384	Preauricular skin tag
ORPHANET:2322	KMT2D	8085	HP:0000482	Microcornea
ORPHANET:2322	KMT2D	8085	HP:0002353	EEG abnormality
ORPHANET:2322	KMT2D	8085	HP:0008736	Hypoplasia of penis
ORPHANET:2322	KMT2D	8085	HP:0001250	Seizures
ORPHANET:2322	KMT2D	8085	HP:0010978	Abnormality of immune system physiology
ORPHANET:2322	KDM6A	7403	HP:0001679	Abnormality of the aorta
ORPHANET:2322	KDM6A	7403	HP:0000567	Chorioretinal coloboma
ORPHANET:2322	KDM6A	7403	HP:0002119	Ventriculomegaly
ORPHANET:2322	KDM6A	7403	HP:0000826	Precocious puberty
ORPHANET:2322	KDM6A	7403	HP:0001156	Brachydactyly syndrome
ORPHANET:2322	KDM6A	7403	HP:0000298	Mask-like facies
ORPHANET:2322	KDM6A	7403	HP:0005338	Sparse lateral eyebrow
ORPHANET:2322	KDM6A	7403	HP:0100335	Non-midline cleft lip
ORPHANET:2322	KDM6A	7403	HP:0100542	Abnormal localization of kidney
ORPHANET:2322	KDM6A	7403	HP:0000366	Abnormality of the nose
ORPHANET:2322	KDM6A	7403	HP:0000175	Cleft palate
ORPHANET:2322	KDM6A	7403	HP:0004279	Short palm
ORPHANET:2322	KDM6A	7403	HP:0001671	Abnormality of the cardiac septa
ORPHANET:2322	KDM6A	7403	HP:0000400	Macrotia
ORPHANET:2322	KDM6A	7403	HP:0000508	Ptosis
ORPHANET:2322	KDM6A	7403	HP:0000407	Sensorineural hearing impairment
ORPHANET:2322	KDM6A	7403	HP:0002120	Cerebral cortical atrophy
ORPHANET:2322	KDM6A	7403	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:2322	KDM6A	7403	HP:0002650	Scoliosis
ORPHANET:2322	KDM6A	7403	HP:0000691	Microdontia
ORPHANET:2322	KDM6A	7403	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2322	KDM6A	7403	HP:0001382	Joint hypermobility
ORPHANET:2322	KDM6A	7403	HP:0007477	Abnormal dermatoglyphics
ORPHANET:2322	KDM6A	7403	HP:0100543	Cognitive impairment
ORPHANET:2322	KDM6A	7403	HP:0000592	Blue sclerae
ORPHANET:2322	KDM6A	7403	HP:0003272	Abnormality of the hip bone
ORPHANET:2322	KDM6A	7403	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2322	KDM6A	7403	HP:0009804	Reduced number of teeth
ORPHANET:2322	KDM6A	7403	HP:0000405	Conductive hearing impairment
ORPHANET:2322	KDM6A	7403	HP:0000639	Nystagmus
ORPHANET:2322	KDM6A	7403	HP:0001513	Obesity
ORPHANET:2322	KDM6A	7403	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2322	KDM6A	7403	HP:0001252	Muscular hypotonia
ORPHANET:2322	KDM6A	7403	HP:0000028	Cryptorchidism
ORPHANET:2322	KDM6A	7403	HP:0000499	Abnormality of the eyelashes
ORPHANET:2322	KDM6A	7403	HP:0002553	Highly arched eyebrow
ORPHANET:2322	KDM6A	7403	HP:0000238	Hydrocephalus
ORPHANET:2322	KDM6A	7403	HP:0000486	Strabismus
ORPHANET:2322	KDM6A	7403	HP:0004322	Short stature
ORPHANET:2322	KDM6A	7403	HP:0000252	Microcephaly
ORPHANET:2322	KDM6A	7403	HP:0000384	Preauricular skin tag
ORPHANET:2322	KDM6A	7403	HP:0000482	Microcornea
ORPHANET:2322	KDM6A	7403	HP:0002353	EEG abnormality
ORPHANET:2322	KDM6A	7403	HP:0008736	Hypoplasia of penis
ORPHANET:2322	KDM6A	7403	HP:0001250	Seizures
ORPHANET:2322	KDM6A	7403	HP:0010978	Abnormality of immune system physiology
OMIM:614562	ARID1A	8289	HP:0000368	Low-set, posteriorly rotated ears
OMIM:614562	ARID1A	8289	HP:0000006	Autosomal dominant inheritance
OMIM:614562	ARID1A	8289	HP:0001249	Intellectual disability
OMIM:614562	ARID1A	8289	HP:0000494	Downslanted palpebral fissures
OMIM:614562	ARID1A	8289	HP:0001252	Muscular hypotonia
OMIM:614562	ARID1A	8289	HP:0000219	Thin upper lip vermilion
OMIM:614562	ARID1A	8289	HP:0000414	Bulbous nose
OMIM:614562	ARID1A	8289	HP:0004322	Short stature
OMIM:614562	ARID1B	57492	HP:0000368	Low-set, posteriorly rotated ears
OMIM:614562	ARID1B	57492	HP:0000006	Autosomal dominant inheritance
OMIM:614562	ARID1B	57492	HP:0001249	Intellectual disability
OMIM:614562	ARID1B	57492	HP:0000494	Downslanted palpebral fissures
OMIM:614562	ARID1B	57492	HP:0001252	Muscular hypotonia
OMIM:614562	ARID1B	57492	HP:0000219	Thin upper lip vermilion
OMIM:614562	ARID1B	57492	HP:0000414	Bulbous nose
OMIM:614562	ARID1B	57492	HP:0004322	Short stature
OMIM:614562	SMARCA4	6597	HP:0000368	Low-set, posteriorly rotated ears
OMIM:614562	SMARCA4	6597	HP:0000006	Autosomal dominant inheritance
OMIM:614562	SMARCA4	6597	HP:0001249	Intellectual disability
OMIM:614562	SMARCA4	6597	HP:0000494	Downslanted palpebral fissures
OMIM:614562	SMARCA4	6597	HP:0001252	Muscular hypotonia
OMIM:614562	SMARCA4	6597	HP:0000219	Thin upper lip vermilion
OMIM:614562	SMARCA4	6597	HP:0000414	Bulbous nose
OMIM:614562	SMARCA4	6597	HP:0004322	Short stature
OMIM:614562	SMARCB1	6598	HP:0000368	Low-set, posteriorly rotated ears
OMIM:614562	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
OMIM:614562	SMARCB1	6598	HP:0001249	Intellectual disability
OMIM:614562	SMARCB1	6598	HP:0000494	Downslanted palpebral fissures
OMIM:614562	SMARCB1	6598	HP:0001252	Muscular hypotonia
OMIM:614562	SMARCB1	6598	HP:0000219	Thin upper lip vermilion
OMIM:614562	SMARCB1	6598	HP:0000414	Bulbous nose
OMIM:614562	SMARCB1	6598	HP:0004322	Short stature
OMIM:614562	SOX11	6664	HP:0000368	Low-set, posteriorly rotated ears
OMIM:614562	SOX11	6664	HP:0000006	Autosomal dominant inheritance
OMIM:614562	SOX11	6664	HP:0001249	Intellectual disability
OMIM:614562	SOX11	6664	HP:0000494	Downslanted palpebral fissures
OMIM:614562	SOX11	6664	HP:0001252	Muscular hypotonia
OMIM:614562	SOX11	6664	HP:0000219	Thin upper lip vermilion
OMIM:614562	SOX11	6664	HP:0000414	Bulbous nose
OMIM:614562	SOX11	6664	HP:0004322	Short stature
OMIM:614562	SMARCE1	6605	HP:0000368	Low-set, posteriorly rotated ears
OMIM:614562	SMARCE1	6605	HP:0000006	Autosomal dominant inheritance
OMIM:614562	SMARCE1	6605	HP:0001249	Intellectual disability
OMIM:614562	SMARCE1	6605	HP:0000494	Downslanted palpebral fissures
OMIM:614562	SMARCE1	6605	HP:0001252	Muscular hypotonia
OMIM:614562	SMARCE1	6605	HP:0000219	Thin upper lip vermilion
OMIM:614562	SMARCE1	6605	HP:0000414	Bulbous nose
OMIM:614562	SMARCE1	6605	HP:0004322	Short stature
ORPHANET:1416	ANKH	56172	HP:0100261	Abnormal tendon morphology
ORPHANET:1416	ANKH	56172	HP:0000934	Chondrocalcinosis
ORPHANET:1416	ANKH	56172	HP:0001250	Seizures
ORPHANET:1416	ANKH	56172	HP:0001373	Joint dislocation
ORPHANET:1416	ANKH	56172	HP:0002758	Osteoarthritis
ORPHANET:1416	ANKH	56172	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:1416	ANKH	56172	HP:0001376	Limitation of joint mobility
ORPHANET:1416	ANKH	56172	HP:0002829	Arthralgia
OMIM:303600	RPS6KA3	6197	HP:0008872	Feeding difficulties in infancy
OMIM:303600	RPS6KA3	6197	HP:0001252	Muscular hypotonia
OMIM:303600	RPS6KA3	6197	HP:0002673	Coxa valga
OMIM:303600	RPS6KA3	6197	HP:0000252	Microcephaly
OMIM:303600	RPS6KA3	6197	HP:0000494	Downslanted palpebral fissures
OMIM:303600	RPS6KA3	6197	HP:0001798	Anonychia
OMIM:303600	RPS6KA3	6197	HP:0002750	Delayed skeletal maturation
OMIM:303600	RPS6KA3	6197	HP:0001633	Abnormality of the mitral valve
OMIM:303600	RPS6KA3	6197	HP:0006482	Abnormality of dental morphology
OMIM:303600	RPS6KA3	6197	HP:0000218	High palate
OMIM:303600	RPS6KA3	6197	HP:0000648	Optic atrophy
OMIM:303600	RPS6KA3	6197	HP:0002269	Abnormality of neuronal migration
OMIM:303600	RPS6KA3	6197	HP:0004493	Craniofacial hyperostosis
OMIM:303600	RPS6KA3	6197	HP:0000280	Coarse facial features
OMIM:303600	RPS6KA3	6197	HP:0000768	Pectus carinatum
OMIM:303600	RPS6KA3	6197	HP:0001702	Abnormality of the tricuspid valve
OMIM:303600	RPS6KA3	6197	HP:0002553	Highly arched eyebrow
OMIM:303600	RPS6KA3	6197	HP:0000411	Protruding ear
OMIM:303600	RPS6KA3	6197	HP:0000668	Hypodontia
OMIM:303600	RPS6KA3	6197	HP:0010049	Short metacarpal
OMIM:303600	RPS6KA3	6197	HP:0000194	Open mouth
OMIM:303600	RPS6KA3	6197	HP:0000174	Abnormality of the palate
OMIM:303600	RPS6KA3	6197	HP:0003312	Abnormal form of the vertebral bodies
OMIM:303600	RPS6KA3	6197	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:303600	RPS6KA3	6197	HP:0002120	Cerebral cortical atrophy
OMIM:303600	RPS6KA3	6197	HP:0002119	Ventriculomegaly
OMIM:303600	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:303600	RPS6KA3	6197	HP:0001763	Pes planus
OMIM:303600	RPS6KA3	6197	HP:0002684	Thickened calvaria
OMIM:303600	RPS6KA3	6197	HP:0100716	Self-injurious behavior
OMIM:303600	RPS6KA3	6197	HP:0000767	Pectus excavatum
OMIM:303600	RPS6KA3	6197	HP:0000407	Sensorineural hearing impairment
OMIM:303600	RPS6KA3	6197	HP:0000179	Thick lower lip vermilion
OMIM:303600	RPS6KA3	6197	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:303600	RPS6KA3	6197	HP:0004322	Short stature
OMIM:303600	RPS6KA3	6197	HP:0000286	Epicanthus
OMIM:303600	RPS6KA3	6197	HP:0007703	Abnormality of retinal pigmentation
OMIM:303600	RPS6KA3	6197	HP:0001288	Gait disturbance
OMIM:303600	RPS6KA3	6197	HP:0000518	Cataract
OMIM:303600	RPS6KA3	6197	HP:0006288	Advanced eruption of teeth
OMIM:303600	RPS6KA3	6197	HP:0001646	Abnormality of the aortic valve
OMIM:303600	RPS6KA3	6197	HP:0000303	Mandibular prognathia
OMIM:303600	RPS6KA3	6197	HP:0000445	Wide nose
OMIM:303600	RPS6KA3	6197	HP:0000189	Narrow palate
OMIM:303600	RPS6KA3	6197	HP:0002167	Neurological speech impairment
OMIM:303600	RPS6KA3	6197	HP:0000316	Hypertelorism
OMIM:303600	RPS6KA3	6197	HP:0000463	Anteverted nares
OMIM:303600	RPS6KA3	6197	HP:0001382	Joint hypermobility
OMIM:303600	RPS6KA3	6197	HP:0000377	Abnormality of the pinna
OMIM:303600	RPS6KA3	6197	HP:0001250	Seizures
OMIM:303600	RPS6KA3	6197	HP:0000154	Wide mouth
OMIM:303600	RPS6KA3	6197	HP:0000954	Single transverse palmar crease
OMIM:303600	RPS6KA3	6197	HP:0000232	Everted lower lip vermilion
OMIM:303600	RPS6KA3	6197	HP:0000574	Thick eyebrow
OMIM:303600	RPS6KA3	6197	HP:0002808	Kyphosis
OMIM:303600	RPS6KA3	6197	HP:0000965	Cutis marmorata
OMIM:303600	RPS6KA3	6197	HP:0001324	Muscle weakness
OMIM:303600	RPS6KA3	6197	HP:0100543	Cognitive impairment
OMIM:303600	RPS6KA3	6197	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:303600	RPS6KA3	6197	HP:0000687	Widely spaced teeth
OMIM:303600	RPS6KA3	6197	HP:0002208	Coarse hair
OMIM:303600	RPS6KA3	6197	HP:0004325	Decreased body weight
OMIM:303600	RPS6KA3	6197	HP:0000973	Cutis laxa
OMIM:303600	RPS6KA3	6197	HP:0001182	Tapered finger
OMIM:303600	RPS6KA3	6197	HP:0002007	Frontal bossing
OMIM:303600	RPS6KA3	6197	HP:0001276	Hypertonia
OMIM:303600	RPS6KA3	6197	HP:0001163	Abnormality of the metacarpal bones
OMIM:303600	RPS6KA3	6197	HP:0000689	Dental malocclusion
OMIM:303600	RPS6KA3	6197	HP:0009804	Reduced number of teeth
OMIM:303600	RPS6KA3	6197	HP:0009882	Short distal phalanx of finger
OMIM:303600	RPS6KA3	6197	HP:0000023	Inguinal hernia
OMIM:303600	RPS6KA3	6197	HP:0000684	Delayed eruption of teeth
OMIM:303600	RPS6KA3	6197	HP:0005280	Depressed nasal bridge
OMIM:303600	RPS6KA3	6197	HP:0000940	Abnormal diaphysis morphology
OMIM:303600	RPS6KA3	6197	HP:0001176	Large hands
OMIM:303600	RPS6KA3	6197	HP:0002104	Apnea
OMIM:303600	RPS6KA3	6197	HP:0002035	Rectal prolapse
OMIM:303600	RPS6KA3	6197	HP:0001653	Mitral regurgitation
OMIM:303600	RPS6KA3	6197	HP:0003202	Skeletal muscle atrophy
OMIM:303600	RPS6KA3	6197	HP:0000336	Prominent supraorbital ridges
OMIM:303600	RPS6KA3	6197	HP:0002650	Scoliosis
OMIM:303600	RPS6KA3	6197	HP:0001423	X-linked dominant inheritance
OMIM:303600	RPS6KA3	6197	HP:0000498	Blepharitis
OMIM:303600	RPS6KA3	6197	HP:0000506	Telecanthus
OMIM:303600	RPS6KA3	6197	HP:0001156	Brachydactyly syndrome
OMIM:614866	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX19	5824	HP:0001762	Talipes equinovarus
OMIM:614866	PEX19	5824	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX19	5824	HP:0001840	Metatarsus adductus
OMIM:614866	PEX19	5824	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX19	5824	HP:0000286	Epicanthus
OMIM:614866	PEX19	5824	HP:0002033	Poor suck
OMIM:614866	PEX19	5824	HP:0000316	Hypertelorism
OMIM:614866	PEX19	5824	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX19	5824	HP:0000057	Clitoromegaly
OMIM:614866	PEX19	5824	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX19	5824	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX19	5824	HP:0012385	Camptodactyly
OMIM:614866	PEX19	5824	HP:0000518	Cataract
OMIM:614866	PEX19	5824	HP:0012368	Flat face
OMIM:614866	PEX19	5824	HP:0001250	Seizures
OMIM:614866	PEX19	5824	HP:0002126	Polymicrogyria
OMIM:614866	PEX19	5824	HP:0000028	Cryptorchidism
OMIM:614866	PEX19	5824	HP:0000952	Jaundice
OMIM:614866	PEX19	5824	HP:0002240	Hepatomegaly
OMIM:614866	PEX19	5824	HP:0001263	Global developmental delay
OMIM:614866	PEX19	5824	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX19	5824	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX19	5824	HP:0000107	Renal cyst
OMIM:614866	PEX19	5824	HP:0000239	Large fontanelles
OMIM:614866	PEX19	5824	HP:0000348	High forehead
OMIM:614866	PEX19	5824	HP:0011039	Abnormality of the helix
OMIM:614866	PEX19	5824	HP:0000175	Cleft palate
OMIM:614866	PEX19	5824	HP:0000369	Low-set ears
OMIM:614866	PEX19	5824	HP:0001249	Intellectual disability
OMIM:614866	PEX19	5824	HP:0001508	Failure to thrive
OMIM:614866	PEX19	5824	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX19	5824	HP:0002967	Cubitus valgus
OMIM:614866	PEX19	5824	HP:0000311	Round face
OMIM:614866	PEX19	5824	HP:0001284	Areflexia
OMIM:614866	PEX19	5824	HP:0001744	Splenomegaly
OMIM:614866	PEX19	5824	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX19	5824	HP:0000347	Micrognathia
OMIM:614866	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX16	9409	HP:0001762	Talipes equinovarus
OMIM:614866	PEX16	9409	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX16	9409	HP:0001840	Metatarsus adductus
OMIM:614866	PEX16	9409	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX16	9409	HP:0000286	Epicanthus
OMIM:614866	PEX16	9409	HP:0002033	Poor suck
OMIM:614866	PEX16	9409	HP:0000316	Hypertelorism
OMIM:614866	PEX16	9409	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX16	9409	HP:0000057	Clitoromegaly
OMIM:614866	PEX16	9409	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX16	9409	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX16	9409	HP:0012385	Camptodactyly
OMIM:614866	PEX16	9409	HP:0000518	Cataract
OMIM:614866	PEX16	9409	HP:0012368	Flat face
OMIM:614866	PEX16	9409	HP:0001250	Seizures
OMIM:614866	PEX16	9409	HP:0002126	Polymicrogyria
OMIM:614866	PEX16	9409	HP:0000028	Cryptorchidism
OMIM:614866	PEX16	9409	HP:0000952	Jaundice
OMIM:614866	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:614866	PEX16	9409	HP:0001263	Global developmental delay
OMIM:614866	PEX16	9409	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX16	9409	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX16	9409	HP:0000107	Renal cyst
OMIM:614866	PEX16	9409	HP:0000239	Large fontanelles
OMIM:614866	PEX16	9409	HP:0000348	High forehead
OMIM:614866	PEX16	9409	HP:0011039	Abnormality of the helix
OMIM:614866	PEX16	9409	HP:0000175	Cleft palate
OMIM:614866	PEX16	9409	HP:0000369	Low-set ears
OMIM:614866	PEX16	9409	HP:0001249	Intellectual disability
OMIM:614866	PEX16	9409	HP:0001508	Failure to thrive
OMIM:614866	PEX16	9409	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX16	9409	HP:0002967	Cubitus valgus
OMIM:614866	PEX16	9409	HP:0000311	Round face
OMIM:614866	PEX16	9409	HP:0001284	Areflexia
OMIM:614866	PEX16	9409	HP:0001744	Splenomegaly
OMIM:614866	PEX16	9409	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX16	9409	HP:0000347	Micrognathia
OMIM:614866	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX2	5828	HP:0001762	Talipes equinovarus
OMIM:614866	PEX2	5828	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX2	5828	HP:0001840	Metatarsus adductus
OMIM:614866	PEX2	5828	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX2	5828	HP:0000286	Epicanthus
OMIM:614866	PEX2	5828	HP:0002033	Poor suck
OMIM:614866	PEX2	5828	HP:0000316	Hypertelorism
OMIM:614866	PEX2	5828	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX2	5828	HP:0000057	Clitoromegaly
OMIM:614866	PEX2	5828	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX2	5828	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX2	5828	HP:0012385	Camptodactyly
OMIM:614866	PEX2	5828	HP:0000518	Cataract
OMIM:614866	PEX2	5828	HP:0012368	Flat face
OMIM:614866	PEX2	5828	HP:0001250	Seizures
OMIM:614866	PEX2	5828	HP:0002126	Polymicrogyria
OMIM:614866	PEX2	5828	HP:0000028	Cryptorchidism
OMIM:614866	PEX2	5828	HP:0000952	Jaundice
OMIM:614866	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:614866	PEX2	5828	HP:0001263	Global developmental delay
OMIM:614866	PEX2	5828	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX2	5828	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX2	5828	HP:0000107	Renal cyst
OMIM:614866	PEX2	5828	HP:0000239	Large fontanelles
OMIM:614866	PEX2	5828	HP:0000348	High forehead
OMIM:614866	PEX2	5828	HP:0011039	Abnormality of the helix
OMIM:614866	PEX2	5828	HP:0000175	Cleft palate
OMIM:614866	PEX2	5828	HP:0000369	Low-set ears
OMIM:614866	PEX2	5828	HP:0001249	Intellectual disability
OMIM:614866	PEX2	5828	HP:0001508	Failure to thrive
OMIM:614866	PEX2	5828	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX2	5828	HP:0002967	Cubitus valgus
OMIM:614866	PEX2	5828	HP:0000311	Round face
OMIM:614866	PEX2	5828	HP:0001284	Areflexia
OMIM:614866	PEX2	5828	HP:0001744	Splenomegaly
OMIM:614866	PEX2	5828	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX2	5828	HP:0000347	Micrognathia
OMIM:614866	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX1	5189	HP:0001762	Talipes equinovarus
OMIM:614866	PEX1	5189	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX1	5189	HP:0001840	Metatarsus adductus
OMIM:614866	PEX1	5189	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX1	5189	HP:0000286	Epicanthus
OMIM:614866	PEX1	5189	HP:0002033	Poor suck
OMIM:614866	PEX1	5189	HP:0000316	Hypertelorism
OMIM:614866	PEX1	5189	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX1	5189	HP:0000057	Clitoromegaly
OMIM:614866	PEX1	5189	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX1	5189	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX1	5189	HP:0012385	Camptodactyly
OMIM:614866	PEX1	5189	HP:0000518	Cataract
OMIM:614866	PEX1	5189	HP:0012368	Flat face
OMIM:614866	PEX1	5189	HP:0001250	Seizures
OMIM:614866	PEX1	5189	HP:0002126	Polymicrogyria
OMIM:614866	PEX1	5189	HP:0000028	Cryptorchidism
OMIM:614866	PEX1	5189	HP:0000952	Jaundice
OMIM:614866	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:614866	PEX1	5189	HP:0001263	Global developmental delay
OMIM:614866	PEX1	5189	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX1	5189	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX1	5189	HP:0000107	Renal cyst
OMIM:614866	PEX1	5189	HP:0000239	Large fontanelles
OMIM:614866	PEX1	5189	HP:0000348	High forehead
OMIM:614866	PEX1	5189	HP:0011039	Abnormality of the helix
OMIM:614866	PEX1	5189	HP:0000175	Cleft palate
OMIM:614866	PEX1	5189	HP:0000369	Low-set ears
OMIM:614866	PEX1	5189	HP:0001249	Intellectual disability
OMIM:614866	PEX1	5189	HP:0001508	Failure to thrive
OMIM:614866	PEX1	5189	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX1	5189	HP:0002967	Cubitus valgus
OMIM:614866	PEX1	5189	HP:0000311	Round face
OMIM:614866	PEX1	5189	HP:0001284	Areflexia
OMIM:614866	PEX1	5189	HP:0001744	Splenomegaly
OMIM:614866	PEX1	5189	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX1	5189	HP:0000347	Micrognathia
OMIM:614866	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX5	5830	HP:0001762	Talipes equinovarus
OMIM:614866	PEX5	5830	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX5	5830	HP:0001840	Metatarsus adductus
OMIM:614866	PEX5	5830	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX5	5830	HP:0000286	Epicanthus
OMIM:614866	PEX5	5830	HP:0002033	Poor suck
OMIM:614866	PEX5	5830	HP:0000316	Hypertelorism
OMIM:614866	PEX5	5830	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX5	5830	HP:0000057	Clitoromegaly
OMIM:614866	PEX5	5830	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX5	5830	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX5	5830	HP:0012385	Camptodactyly
OMIM:614866	PEX5	5830	HP:0000518	Cataract
OMIM:614866	PEX5	5830	HP:0012368	Flat face
OMIM:614866	PEX5	5830	HP:0001250	Seizures
OMIM:614866	PEX5	5830	HP:0002126	Polymicrogyria
OMIM:614866	PEX5	5830	HP:0000028	Cryptorchidism
OMIM:614866	PEX5	5830	HP:0000952	Jaundice
OMIM:614866	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:614866	PEX5	5830	HP:0001263	Global developmental delay
OMIM:614866	PEX5	5830	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX5	5830	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX5	5830	HP:0000107	Renal cyst
OMIM:614866	PEX5	5830	HP:0000239	Large fontanelles
OMIM:614866	PEX5	5830	HP:0000348	High forehead
OMIM:614866	PEX5	5830	HP:0011039	Abnormality of the helix
OMIM:614866	PEX5	5830	HP:0000175	Cleft palate
OMIM:614866	PEX5	5830	HP:0000369	Low-set ears
OMIM:614866	PEX5	5830	HP:0001249	Intellectual disability
OMIM:614866	PEX5	5830	HP:0001508	Failure to thrive
OMIM:614866	PEX5	5830	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX5	5830	HP:0002967	Cubitus valgus
OMIM:614866	PEX5	5830	HP:0000311	Round face
OMIM:614866	PEX5	5830	HP:0001284	Areflexia
OMIM:614866	PEX5	5830	HP:0001744	Splenomegaly
OMIM:614866	PEX5	5830	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX5	5830	HP:0000347	Micrognathia
OMIM:614866	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX6	5190	HP:0001762	Talipes equinovarus
OMIM:614866	PEX6	5190	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX6	5190	HP:0001840	Metatarsus adductus
OMIM:614866	PEX6	5190	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX6	5190	HP:0000286	Epicanthus
OMIM:614866	PEX6	5190	HP:0002033	Poor suck
OMIM:614866	PEX6	5190	HP:0000316	Hypertelorism
OMIM:614866	PEX6	5190	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX6	5190	HP:0000057	Clitoromegaly
OMIM:614866	PEX6	5190	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX6	5190	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX6	5190	HP:0012385	Camptodactyly
OMIM:614866	PEX6	5190	HP:0000518	Cataract
OMIM:614866	PEX6	5190	HP:0012368	Flat face
OMIM:614866	PEX6	5190	HP:0001250	Seizures
OMIM:614866	PEX6	5190	HP:0002126	Polymicrogyria
OMIM:614866	PEX6	5190	HP:0000028	Cryptorchidism
OMIM:614866	PEX6	5190	HP:0000952	Jaundice
OMIM:614866	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:614866	PEX6	5190	HP:0001263	Global developmental delay
OMIM:614866	PEX6	5190	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX6	5190	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX6	5190	HP:0000107	Renal cyst
OMIM:614866	PEX6	5190	HP:0000239	Large fontanelles
OMIM:614866	PEX6	5190	HP:0000348	High forehead
OMIM:614866	PEX6	5190	HP:0011039	Abnormality of the helix
OMIM:614866	PEX6	5190	HP:0000175	Cleft palate
OMIM:614866	PEX6	5190	HP:0000369	Low-set ears
OMIM:614866	PEX6	5190	HP:0001249	Intellectual disability
OMIM:614866	PEX6	5190	HP:0001508	Failure to thrive
OMIM:614866	PEX6	5190	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX6	5190	HP:0002967	Cubitus valgus
OMIM:614866	PEX6	5190	HP:0000311	Round face
OMIM:614866	PEX6	5190	HP:0001284	Areflexia
OMIM:614866	PEX6	5190	HP:0001744	Splenomegaly
OMIM:614866	PEX6	5190	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX6	5190	HP:0000347	Micrognathia
OMIM:614866	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX10	5192	HP:0001762	Talipes equinovarus
OMIM:614866	PEX10	5192	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX10	5192	HP:0001840	Metatarsus adductus
OMIM:614866	PEX10	5192	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX10	5192	HP:0000286	Epicanthus
OMIM:614866	PEX10	5192	HP:0002033	Poor suck
OMIM:614866	PEX10	5192	HP:0000316	Hypertelorism
OMIM:614866	PEX10	5192	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX10	5192	HP:0000057	Clitoromegaly
OMIM:614866	PEX10	5192	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX10	5192	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX10	5192	HP:0012385	Camptodactyly
OMIM:614866	PEX10	5192	HP:0000518	Cataract
OMIM:614866	PEX10	5192	HP:0012368	Flat face
OMIM:614866	PEX10	5192	HP:0001250	Seizures
OMIM:614866	PEX10	5192	HP:0002126	Polymicrogyria
OMIM:614866	PEX10	5192	HP:0000028	Cryptorchidism
OMIM:614866	PEX10	5192	HP:0000952	Jaundice
OMIM:614866	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:614866	PEX10	5192	HP:0001263	Global developmental delay
OMIM:614866	PEX10	5192	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX10	5192	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX10	5192	HP:0000107	Renal cyst
OMIM:614866	PEX10	5192	HP:0000239	Large fontanelles
OMIM:614866	PEX10	5192	HP:0000348	High forehead
OMIM:614866	PEX10	5192	HP:0011039	Abnormality of the helix
OMIM:614866	PEX10	5192	HP:0000175	Cleft palate
OMIM:614866	PEX10	5192	HP:0000369	Low-set ears
OMIM:614866	PEX10	5192	HP:0001249	Intellectual disability
OMIM:614866	PEX10	5192	HP:0001508	Failure to thrive
OMIM:614866	PEX10	5192	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX10	5192	HP:0002967	Cubitus valgus
OMIM:614866	PEX10	5192	HP:0000311	Round face
OMIM:614866	PEX10	5192	HP:0001284	Areflexia
OMIM:614866	PEX10	5192	HP:0001744	Splenomegaly
OMIM:614866	PEX10	5192	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX10	5192	HP:0000347	Micrognathia
OMIM:614866	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX12	5193	HP:0001762	Talipes equinovarus
OMIM:614866	PEX12	5193	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX12	5193	HP:0001840	Metatarsus adductus
OMIM:614866	PEX12	5193	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX12	5193	HP:0000286	Epicanthus
OMIM:614866	PEX12	5193	HP:0002033	Poor suck
OMIM:614866	PEX12	5193	HP:0000316	Hypertelorism
OMIM:614866	PEX12	5193	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX12	5193	HP:0000057	Clitoromegaly
OMIM:614866	PEX12	5193	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX12	5193	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX12	5193	HP:0012385	Camptodactyly
OMIM:614866	PEX12	5193	HP:0000518	Cataract
OMIM:614866	PEX12	5193	HP:0012368	Flat face
OMIM:614866	PEX12	5193	HP:0001250	Seizures
OMIM:614866	PEX12	5193	HP:0002126	Polymicrogyria
OMIM:614866	PEX12	5193	HP:0000028	Cryptorchidism
OMIM:614866	PEX12	5193	HP:0000952	Jaundice
OMIM:614866	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:614866	PEX12	5193	HP:0001263	Global developmental delay
OMIM:614866	PEX12	5193	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX12	5193	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX12	5193	HP:0000107	Renal cyst
OMIM:614866	PEX12	5193	HP:0000239	Large fontanelles
OMIM:614866	PEX12	5193	HP:0000348	High forehead
OMIM:614866	PEX12	5193	HP:0011039	Abnormality of the helix
OMIM:614866	PEX12	5193	HP:0000175	Cleft palate
OMIM:614866	PEX12	5193	HP:0000369	Low-set ears
OMIM:614866	PEX12	5193	HP:0001249	Intellectual disability
OMIM:614866	PEX12	5193	HP:0001508	Failure to thrive
OMIM:614866	PEX12	5193	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX12	5193	HP:0002967	Cubitus valgus
OMIM:614866	PEX12	5193	HP:0000311	Round face
OMIM:614866	PEX12	5193	HP:0001284	Areflexia
OMIM:614866	PEX12	5193	HP:0001744	Splenomegaly
OMIM:614866	PEX12	5193	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX12	5193	HP:0000347	Micrognathia
OMIM:614866	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX13	5194	HP:0001762	Talipes equinovarus
OMIM:614866	PEX13	5194	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX13	5194	HP:0001840	Metatarsus adductus
OMIM:614866	PEX13	5194	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX13	5194	HP:0000286	Epicanthus
OMIM:614866	PEX13	5194	HP:0002033	Poor suck
OMIM:614866	PEX13	5194	HP:0000316	Hypertelorism
OMIM:614866	PEX13	5194	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX13	5194	HP:0000057	Clitoromegaly
OMIM:614866	PEX13	5194	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX13	5194	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX13	5194	HP:0012385	Camptodactyly
OMIM:614866	PEX13	5194	HP:0000518	Cataract
OMIM:614866	PEX13	5194	HP:0012368	Flat face
OMIM:614866	PEX13	5194	HP:0001250	Seizures
OMIM:614866	PEX13	5194	HP:0002126	Polymicrogyria
OMIM:614866	PEX13	5194	HP:0000028	Cryptorchidism
OMIM:614866	PEX13	5194	HP:0000952	Jaundice
OMIM:614866	PEX13	5194	HP:0002240	Hepatomegaly
OMIM:614866	PEX13	5194	HP:0001263	Global developmental delay
OMIM:614866	PEX13	5194	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX13	5194	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX13	5194	HP:0000107	Renal cyst
OMIM:614866	PEX13	5194	HP:0000239	Large fontanelles
OMIM:614866	PEX13	5194	HP:0000348	High forehead
OMIM:614866	PEX13	5194	HP:0011039	Abnormality of the helix
OMIM:614866	PEX13	5194	HP:0000175	Cleft palate
OMIM:614866	PEX13	5194	HP:0000369	Low-set ears
OMIM:614866	PEX13	5194	HP:0001249	Intellectual disability
OMIM:614866	PEX13	5194	HP:0001508	Failure to thrive
OMIM:614866	PEX13	5194	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX13	5194	HP:0002967	Cubitus valgus
OMIM:614866	PEX13	5194	HP:0000311	Round face
OMIM:614866	PEX13	5194	HP:0001284	Areflexia
OMIM:614866	PEX13	5194	HP:0001744	Splenomegaly
OMIM:614866	PEX13	5194	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX13	5194	HP:0000347	Micrognathia
OMIM:614866	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX14	5195	HP:0001762	Talipes equinovarus
OMIM:614866	PEX14	5195	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX14	5195	HP:0001840	Metatarsus adductus
OMIM:614866	PEX14	5195	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX14	5195	HP:0000286	Epicanthus
OMIM:614866	PEX14	5195	HP:0002033	Poor suck
OMIM:614866	PEX14	5195	HP:0000316	Hypertelorism
OMIM:614866	PEX14	5195	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX14	5195	HP:0000057	Clitoromegaly
OMIM:614866	PEX14	5195	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX14	5195	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX14	5195	HP:0012385	Camptodactyly
OMIM:614866	PEX14	5195	HP:0000518	Cataract
OMIM:614866	PEX14	5195	HP:0012368	Flat face
OMIM:614866	PEX14	5195	HP:0001250	Seizures
OMIM:614866	PEX14	5195	HP:0002126	Polymicrogyria
OMIM:614866	PEX14	5195	HP:0000028	Cryptorchidism
OMIM:614866	PEX14	5195	HP:0000952	Jaundice
OMIM:614866	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:614866	PEX14	5195	HP:0001263	Global developmental delay
OMIM:614866	PEX14	5195	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX14	5195	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX14	5195	HP:0000107	Renal cyst
OMIM:614866	PEX14	5195	HP:0000239	Large fontanelles
OMIM:614866	PEX14	5195	HP:0000348	High forehead
OMIM:614866	PEX14	5195	HP:0011039	Abnormality of the helix
OMIM:614866	PEX14	5195	HP:0000175	Cleft palate
OMIM:614866	PEX14	5195	HP:0000369	Low-set ears
OMIM:614866	PEX14	5195	HP:0001249	Intellectual disability
OMIM:614866	PEX14	5195	HP:0001508	Failure to thrive
OMIM:614866	PEX14	5195	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX14	5195	HP:0002967	Cubitus valgus
OMIM:614866	PEX14	5195	HP:0000311	Round face
OMIM:614866	PEX14	5195	HP:0001284	Areflexia
OMIM:614866	PEX14	5195	HP:0001744	Splenomegaly
OMIM:614866	PEX14	5195	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX14	5195	HP:0000347	Micrognathia
OMIM:614866	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX26	55670	HP:0001762	Talipes equinovarus
OMIM:614866	PEX26	55670	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX26	55670	HP:0001840	Metatarsus adductus
OMIM:614866	PEX26	55670	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX26	55670	HP:0000286	Epicanthus
OMIM:614866	PEX26	55670	HP:0002033	Poor suck
OMIM:614866	PEX26	55670	HP:0000316	Hypertelorism
OMIM:614866	PEX26	55670	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX26	55670	HP:0000057	Clitoromegaly
OMIM:614866	PEX26	55670	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX26	55670	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX26	55670	HP:0012385	Camptodactyly
OMIM:614866	PEX26	55670	HP:0000518	Cataract
OMIM:614866	PEX26	55670	HP:0012368	Flat face
OMIM:614866	PEX26	55670	HP:0001250	Seizures
OMIM:614866	PEX26	55670	HP:0002126	Polymicrogyria
OMIM:614866	PEX26	55670	HP:0000028	Cryptorchidism
OMIM:614866	PEX26	55670	HP:0000952	Jaundice
OMIM:614866	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:614866	PEX26	55670	HP:0001263	Global developmental delay
OMIM:614866	PEX26	55670	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX26	55670	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX26	55670	HP:0000107	Renal cyst
OMIM:614866	PEX26	55670	HP:0000239	Large fontanelles
OMIM:614866	PEX26	55670	HP:0000348	High forehead
OMIM:614866	PEX26	55670	HP:0011039	Abnormality of the helix
OMIM:614866	PEX26	55670	HP:0000175	Cleft palate
OMIM:614866	PEX26	55670	HP:0000369	Low-set ears
OMIM:614866	PEX26	55670	HP:0001249	Intellectual disability
OMIM:614866	PEX26	55670	HP:0001508	Failure to thrive
OMIM:614866	PEX26	55670	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX26	55670	HP:0002967	Cubitus valgus
OMIM:614866	PEX26	55670	HP:0000311	Round face
OMIM:614866	PEX26	55670	HP:0001284	Areflexia
OMIM:614866	PEX26	55670	HP:0001744	Splenomegaly
OMIM:614866	PEX26	55670	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX26	55670	HP:0000347	Micrognathia
OMIM:614866	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX3	8504	HP:0001762	Talipes equinovarus
OMIM:614866	PEX3	8504	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX3	8504	HP:0001840	Metatarsus adductus
OMIM:614866	PEX3	8504	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX3	8504	HP:0000286	Epicanthus
OMIM:614866	PEX3	8504	HP:0002033	Poor suck
OMIM:614866	PEX3	8504	HP:0000316	Hypertelorism
OMIM:614866	PEX3	8504	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX3	8504	HP:0000057	Clitoromegaly
OMIM:614866	PEX3	8504	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX3	8504	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX3	8504	HP:0012385	Camptodactyly
OMIM:614866	PEX3	8504	HP:0000518	Cataract
OMIM:614866	PEX3	8504	HP:0012368	Flat face
OMIM:614866	PEX3	8504	HP:0001250	Seizures
OMIM:614866	PEX3	8504	HP:0002126	Polymicrogyria
OMIM:614866	PEX3	8504	HP:0000028	Cryptorchidism
OMIM:614866	PEX3	8504	HP:0000952	Jaundice
OMIM:614866	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:614866	PEX3	8504	HP:0001263	Global developmental delay
OMIM:614866	PEX3	8504	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX3	8504	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX3	8504	HP:0000107	Renal cyst
OMIM:614866	PEX3	8504	HP:0000239	Large fontanelles
OMIM:614866	PEX3	8504	HP:0000348	High forehead
OMIM:614866	PEX3	8504	HP:0011039	Abnormality of the helix
OMIM:614866	PEX3	8504	HP:0000175	Cleft palate
OMIM:614866	PEX3	8504	HP:0000369	Low-set ears
OMIM:614866	PEX3	8504	HP:0001249	Intellectual disability
OMIM:614866	PEX3	8504	HP:0001508	Failure to thrive
OMIM:614866	PEX3	8504	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX3	8504	HP:0002967	Cubitus valgus
OMIM:614866	PEX3	8504	HP:0000311	Round face
OMIM:614866	PEX3	8504	HP:0001284	Areflexia
OMIM:614866	PEX3	8504	HP:0001744	Splenomegaly
OMIM:614866	PEX3	8504	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX3	8504	HP:0000347	Micrognathia
OMIM:614866	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614866	PEX11B	8799	HP:0001762	Talipes equinovarus
OMIM:614866	PEX11B	8799	HP:0001511	Intrauterine growth retardation
OMIM:614866	PEX11B	8799	HP:0001840	Metatarsus adductus
OMIM:614866	PEX11B	8799	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:614866	PEX11B	8799	HP:0000286	Epicanthus
OMIM:614866	PEX11B	8799	HP:0002033	Poor suck
OMIM:614866	PEX11B	8799	HP:0000316	Hypertelorism
OMIM:614866	PEX11B	8799	HP:0001433	Hepatosplenomegaly
OMIM:614866	PEX11B	8799	HP:0000057	Clitoromegaly
OMIM:614866	PEX11B	8799	HP:0000954	Single transverse palmar crease
OMIM:614866	PEX11B	8799	HP:0004734	Renal cortical microcysts
OMIM:614866	PEX11B	8799	HP:0012385	Camptodactyly
OMIM:614866	PEX11B	8799	HP:0000518	Cataract
OMIM:614866	PEX11B	8799	HP:0012368	Flat face
OMIM:614866	PEX11B	8799	HP:0001250	Seizures
OMIM:614866	PEX11B	8799	HP:0002126	Polymicrogyria
OMIM:614866	PEX11B	8799	HP:0000028	Cryptorchidism
OMIM:614866	PEX11B	8799	HP:0000952	Jaundice
OMIM:614866	PEX11B	8799	HP:0002240	Hepatomegaly
OMIM:614866	PEX11B	8799	HP:0001263	Global developmental delay
OMIM:614866	PEX11B	8799	HP:0008872	Feeding difficulties in infancy
OMIM:614866	PEX11B	8799	HP:0010655	Epiphyseal stippling
OMIM:614866	PEX11B	8799	HP:0000107	Renal cyst
OMIM:614866	PEX11B	8799	HP:0000239	Large fontanelles
OMIM:614866	PEX11B	8799	HP:0000348	High forehead
OMIM:614866	PEX11B	8799	HP:0011039	Abnormality of the helix
OMIM:614866	PEX11B	8799	HP:0000175	Cleft palate
OMIM:614866	PEX11B	8799	HP:0000369	Low-set ears
OMIM:614866	PEX11B	8799	HP:0001249	Intellectual disability
OMIM:614866	PEX11B	8799	HP:0001508	Failure to thrive
OMIM:614866	PEX11B	8799	HP:0000580	Pigmentary retinopathy
OMIM:614866	PEX11B	8799	HP:0002967	Cubitus valgus
OMIM:614866	PEX11B	8799	HP:0000311	Round face
OMIM:614866	PEX11B	8799	HP:0001284	Areflexia
OMIM:614866	PEX11B	8799	HP:0001744	Splenomegaly
OMIM:614866	PEX11B	8799	HP:0007759	Opacification of the corneal stroma
OMIM:614866	PEX11B	8799	HP:0000347	Micrognathia
OMIM:234000	F12	2161	HP:0000007	Autosomal recessive inheritance
OMIM:234000	F12	2161	HP:0004841	Reduced factor XII activity
OMIM:610508	CEL	1056	HP:0000006	Autosomal dominant inheritance
OMIM:610508	CEL	1056	HP:0005978	Type II diabetes mellitus
OMIM:610508	BLK	640	HP:0000006	Autosomal dominant inheritance
OMIM:610508	BLK	640	HP:0005978	Type II diabetes mellitus
OMIM:610508	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:610508	PDX1	3651	HP:0005978	Type II diabetes mellitus
OMIM:610508	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:610508	HNF4A	3172	HP:0005978	Type II diabetes mellitus
OMIM:610508	APPL1	26060	HP:0000006	Autosomal dominant inheritance
OMIM:610508	APPL1	26060	HP:0005978	Type II diabetes mellitus
OMIM:610508	KLF11	8462	HP:0000006	Autosomal dominant inheritance
OMIM:610508	KLF11	8462	HP:0005978	Type II diabetes mellitus
OMIM:610508	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:610508	INS	3630	HP:0005978	Type II diabetes mellitus
OMIM:610508	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:610508	HNF1A	6927	HP:0005978	Type II diabetes mellitus
OMIM:610508	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:610508	ABCC8	6833	HP:0005978	Type II diabetes mellitus
OMIM:610508	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:610508	GCK	2645	HP:0005978	Type II diabetes mellitus
OMIM:610508	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:610508	PAX4	5078	HP:0005978	Type II diabetes mellitus
OMIM:610508	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:610508	KCNJ11	3767	HP:0005978	Type II diabetes mellitus
OMIM:610508	NEUROD1	4760	HP:0000006	Autosomal dominant inheritance
OMIM:610508	NEUROD1	4760	HP:0005978	Type II diabetes mellitus
OMIM:303900	OPN1LW	5956	HP:0001419	X-linked recessive inheritance
OMIM:310200	LTBP4	8425	HP:0001252	Muscular hypotonia
OMIM:310200	LTBP4	8425	HP:0002878	Respiratory failure
OMIM:310200	LTBP4	8425	HP:0003391	Gowers sign
OMIM:310200	LTBP4	8425	HP:0001635	Congestive heart failure
OMIM:310200	LTBP4	8425	HP:0002515	Waddling gait
OMIM:310200	LTBP4	8425	HP:0003307	Hyperlordosis
OMIM:310200	LTBP4	8425	HP:0011463	Childhood onset
OMIM:310200	LTBP4	8425	HP:0001256	Intellectual disability, mild
OMIM:310200	LTBP4	8425	HP:0001371	Flexion contracture
OMIM:310200	LTBP4	8425	HP:0001644	Dilated cardiomyopathy
OMIM:310200	LTBP4	8425	HP:0002650	Scoliosis
OMIM:310200	LTBP4	8425	HP:0003560	Muscular dystrophy
OMIM:310200	LTBP4	8425	HP:0001419	X-linked recessive inheritance
OMIM:310200	LTBP4	8425	HP:0003236	Elevated serum creatine phosphokinase
OMIM:310200	LTBP4	8425	HP:0001265	Hyporeflexia
OMIM:310200	LTBP4	8425	HP:0003707	Calf muscle pseudohypertrophy
OMIM:310200	LTBP4	8425	HP:0002791	Hypoventilation
OMIM:310200	LTBP4	8425	HP:0011675	Arrhythmia
OMIM:310200	DMD	1756	HP:0001252	Muscular hypotonia
OMIM:310200	DMD	1756	HP:0002878	Respiratory failure
OMIM:310200	DMD	1756	HP:0003391	Gowers sign
OMIM:310200	DMD	1756	HP:0001635	Congestive heart failure
OMIM:310200	DMD	1756	HP:0002515	Waddling gait
OMIM:310200	DMD	1756	HP:0003307	Hyperlordosis
OMIM:310200	DMD	1756	HP:0011463	Childhood onset
OMIM:310200	DMD	1756	HP:0001256	Intellectual disability, mild
OMIM:310200	DMD	1756	HP:0001371	Flexion contracture
OMIM:310200	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:310200	DMD	1756	HP:0002650	Scoliosis
OMIM:310200	DMD	1756	HP:0003560	Muscular dystrophy
OMIM:310200	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:310200	DMD	1756	HP:0003236	Elevated serum creatine phosphokinase
OMIM:310200	DMD	1756	HP:0001265	Hyporeflexia
OMIM:310200	DMD	1756	HP:0003707	Calf muscle pseudohypertrophy
OMIM:310200	DMD	1756	HP:0002791	Hypoventilation
OMIM:310200	DMD	1756	HP:0011675	Arrhythmia
OMIM:118400	SH3BP2	6452	HP:0000277	Abnormality of the mandible
OMIM:118400	SH3BP2	6452	HP:0001133	Constriction of peripheral visual field
OMIM:118400	SH3BP2	6452	HP:0000505	Visual impairment
OMIM:118400	SH3BP2	6452	HP:0002104	Apnea
OMIM:118400	SH3BP2	6452	HP:0010622	Neoplasm of the skeletal system
OMIM:118400	SH3BP2	6452	HP:0011463	Childhood onset
OMIM:118400	SH3BP2	6452	HP:0001608	Abnormality of the voice
OMIM:118400	SH3BP2	6452	HP:0007663	Reduced visual acuity
OMIM:118400	SH3BP2	6452	HP:0008872	Feeding difficulties in infancy
OMIM:118400	SH3BP2	6452	HP:0009804	Reduced number of teeth
OMIM:118400	SH3BP2	6452	HP:0001065	Striae distensae
OMIM:118400	SH3BP2	6452	HP:0000311	Round face
OMIM:118400	SH3BP2	6452	HP:0000520	Proptosis
OMIM:118400	SH3BP2	6452	HP:0000648	Optic atrophy
OMIM:118400	SH3BP2	6452	HP:0200056	Macular scarring
OMIM:118400	SH3BP2	6452	HP:0000006	Autosomal dominant inheritance
OMIM:118400	SH3BP2	6452	HP:0006482	Abnormality of dental morphology
OMIM:118400	SH3BP2	6452	HP:0001138	Optic neuropathy
ORPHANET:79394	ALOXE3	59344	HP:0000982	Palmoplantar keratoderma
ORPHANET:79394	ALOXE3	59344	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:79394	ALOXE3	59344	HP:0000365	Hearing impairment
ORPHANET:79394	ALOXE3	59344	HP:0001596	Alopecia
ORPHANET:79394	ALOXE3	59344	HP:0000989	Pruritus
ORPHANET:79394	ALOXE3	59344	HP:0001597	Abnormality of the nail
ORPHANET:79394	ALOXE3	59344	HP:0000966	Hypohidrosis
ORPHANET:79394	ALOXE3	59344	HP:0008064	Ichthyosis
ORPHANET:79394	ALOXE3	59344	HP:0000492	Abnormality of the eyelid
ORPHANET:79394	ALOXE3	59344	HP:0004322	Short stature
ORPHANET:79394	ALOX12B	242	HP:0000982	Palmoplantar keratoderma
ORPHANET:79394	ALOX12B	242	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:79394	ALOX12B	242	HP:0000365	Hearing impairment
ORPHANET:79394	ALOX12B	242	HP:0001596	Alopecia
ORPHANET:79394	ALOX12B	242	HP:0000989	Pruritus
ORPHANET:79394	ALOX12B	242	HP:0001597	Abnormality of the nail
ORPHANET:79394	ALOX12B	242	HP:0000966	Hypohidrosis
ORPHANET:79394	ALOX12B	242	HP:0008064	Ichthyosis
ORPHANET:79394	ALOX12B	242	HP:0000492	Abnormality of the eyelid
ORPHANET:79394	ALOX12B	242	HP:0004322	Short stature
ORPHANET:79394	CERS3	204219	HP:0000982	Palmoplantar keratoderma
ORPHANET:79394	CERS3	204219	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:79394	CERS3	204219	HP:0000365	Hearing impairment
ORPHANET:79394	CERS3	204219	HP:0001596	Alopecia
ORPHANET:79394	CERS3	204219	HP:0000989	Pruritus
ORPHANET:79394	CERS3	204219	HP:0001597	Abnormality of the nail
ORPHANET:79394	CERS3	204219	HP:0000966	Hypohidrosis
ORPHANET:79394	CERS3	204219	HP:0008064	Ichthyosis
ORPHANET:79394	CERS3	204219	HP:0000492	Abnormality of the eyelid
ORPHANET:79394	CERS3	204219	HP:0004322	Short stature
ORPHANET:79394	ABCA12	26154	HP:0000982	Palmoplantar keratoderma
ORPHANET:79394	ABCA12	26154	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:79394	ABCA12	26154	HP:0000365	Hearing impairment
ORPHANET:79394	ABCA12	26154	HP:0001596	Alopecia
ORPHANET:79394	ABCA12	26154	HP:0000989	Pruritus
ORPHANET:79394	ABCA12	26154	HP:0001597	Abnormality of the nail
ORPHANET:79394	ABCA12	26154	HP:0000966	Hypohidrosis
ORPHANET:79394	ABCA12	26154	HP:0008064	Ichthyosis
ORPHANET:79394	ABCA12	26154	HP:0000492	Abnormality of the eyelid
ORPHANET:79394	ABCA12	26154	HP:0004322	Short stature
ORPHANET:79394	TGM1	7051	HP:0000982	Palmoplantar keratoderma
ORPHANET:79394	TGM1	7051	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:79394	TGM1	7051	HP:0000365	Hearing impairment
ORPHANET:79394	TGM1	7051	HP:0001596	Alopecia
ORPHANET:79394	TGM1	7051	HP:0000989	Pruritus
ORPHANET:79394	TGM1	7051	HP:0001597	Abnormality of the nail
ORPHANET:79394	TGM1	7051	HP:0000966	Hypohidrosis
ORPHANET:79394	TGM1	7051	HP:0008064	Ichthyosis
ORPHANET:79394	TGM1	7051	HP:0000492	Abnormality of the eyelid
ORPHANET:79394	TGM1	7051	HP:0004322	Short stature
ORPHANET:79394	PNPLA1	285848	HP:0000982	Palmoplantar keratoderma
ORPHANET:79394	PNPLA1	285848	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:79394	PNPLA1	285848	HP:0000365	Hearing impairment
ORPHANET:79394	PNPLA1	285848	HP:0001596	Alopecia
ORPHANET:79394	PNPLA1	285848	HP:0000989	Pruritus
ORPHANET:79394	PNPLA1	285848	HP:0001597	Abnormality of the nail
ORPHANET:79394	PNPLA1	285848	HP:0000966	Hypohidrosis
ORPHANET:79394	PNPLA1	285848	HP:0008064	Ichthyosis
ORPHANET:79394	PNPLA1	285848	HP:0000492	Abnormality of the eyelid
ORPHANET:79394	PNPLA1	285848	HP:0004322	Short stature
ORPHANET:79394	NIPAL4	348938	HP:0000982	Palmoplantar keratoderma
ORPHANET:79394	NIPAL4	348938	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:79394	NIPAL4	348938	HP:0000365	Hearing impairment
ORPHANET:79394	NIPAL4	348938	HP:0001596	Alopecia
ORPHANET:79394	NIPAL4	348938	HP:0000989	Pruritus
ORPHANET:79394	NIPAL4	348938	HP:0001597	Abnormality of the nail
ORPHANET:79394	NIPAL4	348938	HP:0000966	Hypohidrosis
ORPHANET:79394	NIPAL4	348938	HP:0008064	Ichthyosis
ORPHANET:79394	NIPAL4	348938	HP:0000492	Abnormality of the eyelid
ORPHANET:79394	NIPAL4	348938	HP:0004322	Short stature
ORPHANET:281127	TGM1	7051	HP:0008064	Ichthyosis
OMIM:614859	PEX19	5824	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX19	5824	HP:0001250	Seizures
OMIM:614859	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX19	5824	HP:0002240	Hepatomegaly
OMIM:614859	PEX19	5824	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX16	9409	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX16	9409	HP:0001250	Seizures
OMIM:614859	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:614859	PEX16	9409	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX2	5828	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX2	5828	HP:0001250	Seizures
OMIM:614859	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:614859	PEX2	5828	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX1	5189	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX1	5189	HP:0001250	Seizures
OMIM:614859	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:614859	PEX1	5189	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX5	5830	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX5	5830	HP:0001250	Seizures
OMIM:614859	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:614859	PEX5	5830	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX6	5190	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX6	5190	HP:0001250	Seizures
OMIM:614859	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:614859	PEX6	5190	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX10	5192	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX10	5192	HP:0001250	Seizures
OMIM:614859	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:614859	PEX10	5192	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX12	5193	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX12	5193	HP:0001250	Seizures
OMIM:614859	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:614859	PEX12	5193	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX13	5194	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX13	5194	HP:0001250	Seizures
OMIM:614859	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX13	5194	HP:0002240	Hepatomegaly
OMIM:614859	PEX13	5194	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX14	5195	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX14	5195	HP:0001250	Seizures
OMIM:614859	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:614859	PEX14	5195	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX26	55670	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX26	55670	HP:0001250	Seizures
OMIM:614859	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:614859	PEX26	55670	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX3	8504	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX3	8504	HP:0001250	Seizures
OMIM:614859	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:614859	PEX3	8504	HP:0008872	Feeding difficulties in infancy
OMIM:614859	PEX11B	8799	HP:0010655	Epiphyseal stippling
OMIM:614859	PEX11B	8799	HP:0001250	Seizures
OMIM:614859	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614859	PEX11B	8799	HP:0002240	Hepatomegaly
OMIM:614859	PEX11B	8799	HP:0008872	Feeding difficulties in infancy
OMIM:240500	CD19	930	HP:0006532	Recurrent pneumonia
OMIM:240500	CD19	930	HP:0002664	Neoplasm
OMIM:240500	CD19	930	HP:0005435	Impaired T cell function
OMIM:240500	CD19	930	HP:0001744	Splenomegaly
OMIM:240500	CD19	930	HP:0000007	Autosomal recessive inheritance
OMIM:240500	CD19	930	HP:0002837	Recurrent bronchitis
OMIM:240500	CD19	930	HP:0001287	Meningitis
OMIM:240500	CD19	930	HP:0002721	Immunodeficiency
OMIM:240500	CD19	930	HP:0000006	Autosomal dominant inheritance
OMIM:240500	CD19	930	HP:0002960	Autoimmunity
OMIM:240500	CD19	930	HP:0000403	Recurrent otitis media
OMIM:240500	CD19	930	HP:0002718	Recurrent bacterial infections
OMIM:240500	CD19	930	HP:0000509	Conjunctivitis
OMIM:240500	CD19	930	HP:0002014	Diarrhea
OMIM:240500	CD19	930	HP:0002240	Hepatomegaly
OMIM:240500	CD19	930	HP:0002716	Lymphadenopathy
OMIM:240500	CD19	930	HP:0004315	IgG deficiency
OMIM:240500	CD19	930	HP:0002665	Lymphoma
OMIM:240500	CD19	930	HP:0002110	Bronchiectasis
OMIM:240500	CD19	930	HP:0011108	Recurrent sinusitis
OMIM:240500	TNFRSF13C	115650	HP:0006532	Recurrent pneumonia
OMIM:240500	TNFRSF13C	115650	HP:0002664	Neoplasm
OMIM:240500	TNFRSF13C	115650	HP:0005435	Impaired T cell function
OMIM:240500	TNFRSF13C	115650	HP:0001744	Splenomegaly
OMIM:240500	TNFRSF13C	115650	HP:0000007	Autosomal recessive inheritance
OMIM:240500	TNFRSF13C	115650	HP:0002837	Recurrent bronchitis
OMIM:240500	TNFRSF13C	115650	HP:0001287	Meningitis
OMIM:240500	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:240500	TNFRSF13C	115650	HP:0000006	Autosomal dominant inheritance
OMIM:240500	TNFRSF13C	115650	HP:0002960	Autoimmunity
OMIM:240500	TNFRSF13C	115650	HP:0000403	Recurrent otitis media
OMIM:240500	TNFRSF13C	115650	HP:0002718	Recurrent bacterial infections
OMIM:240500	TNFRSF13C	115650	HP:0000509	Conjunctivitis
OMIM:240500	TNFRSF13C	115650	HP:0002014	Diarrhea
OMIM:240500	TNFRSF13C	115650	HP:0002240	Hepatomegaly
OMIM:240500	TNFRSF13C	115650	HP:0002716	Lymphadenopathy
OMIM:240500	TNFRSF13C	115650	HP:0004315	IgG deficiency
OMIM:240500	TNFRSF13C	115650	HP:0002665	Lymphoma
OMIM:240500	TNFRSF13C	115650	HP:0002110	Bronchiectasis
OMIM:240500	TNFRSF13C	115650	HP:0011108	Recurrent sinusitis
OMIM:240500	MS4A1	931	HP:0006532	Recurrent pneumonia
OMIM:240500	MS4A1	931	HP:0002664	Neoplasm
OMIM:240500	MS4A1	931	HP:0005435	Impaired T cell function
OMIM:240500	MS4A1	931	HP:0001744	Splenomegaly
OMIM:240500	MS4A1	931	HP:0000007	Autosomal recessive inheritance
OMIM:240500	MS4A1	931	HP:0002837	Recurrent bronchitis
OMIM:240500	MS4A1	931	HP:0001287	Meningitis
OMIM:240500	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:240500	MS4A1	931	HP:0000006	Autosomal dominant inheritance
OMIM:240500	MS4A1	931	HP:0002960	Autoimmunity
OMIM:240500	MS4A1	931	HP:0000403	Recurrent otitis media
OMIM:240500	MS4A1	931	HP:0002718	Recurrent bacterial infections
OMIM:240500	MS4A1	931	HP:0000509	Conjunctivitis
OMIM:240500	MS4A1	931	HP:0002014	Diarrhea
OMIM:240500	MS4A1	931	HP:0002240	Hepatomegaly
OMIM:240500	MS4A1	931	HP:0002716	Lymphadenopathy
OMIM:240500	MS4A1	931	HP:0004315	IgG deficiency
OMIM:240500	MS4A1	931	HP:0002665	Lymphoma
OMIM:240500	MS4A1	931	HP:0002110	Bronchiectasis
OMIM:240500	MS4A1	931	HP:0011108	Recurrent sinusitis
OMIM:240500	CR2	1380	HP:0006532	Recurrent pneumonia
OMIM:240500	CR2	1380	HP:0002664	Neoplasm
OMIM:240500	CR2	1380	HP:0005435	Impaired T cell function
OMIM:240500	CR2	1380	HP:0001744	Splenomegaly
OMIM:240500	CR2	1380	HP:0000007	Autosomal recessive inheritance
OMIM:240500	CR2	1380	HP:0002837	Recurrent bronchitis
OMIM:240500	CR2	1380	HP:0001287	Meningitis
OMIM:240500	CR2	1380	HP:0002721	Immunodeficiency
OMIM:240500	CR2	1380	HP:0000006	Autosomal dominant inheritance
OMIM:240500	CR2	1380	HP:0002960	Autoimmunity
OMIM:240500	CR2	1380	HP:0000403	Recurrent otitis media
OMIM:240500	CR2	1380	HP:0002718	Recurrent bacterial infections
OMIM:240500	CR2	1380	HP:0000509	Conjunctivitis
OMIM:240500	CR2	1380	HP:0002014	Diarrhea
OMIM:240500	CR2	1380	HP:0002240	Hepatomegaly
OMIM:240500	CR2	1380	HP:0002716	Lymphadenopathy
OMIM:240500	CR2	1380	HP:0004315	IgG deficiency
OMIM:240500	CR2	1380	HP:0002665	Lymphoma
OMIM:240500	CR2	1380	HP:0002110	Bronchiectasis
OMIM:240500	CR2	1380	HP:0011108	Recurrent sinusitis
OMIM:240500	TNFSF12	8742	HP:0006532	Recurrent pneumonia
OMIM:240500	TNFSF12	8742	HP:0002664	Neoplasm
OMIM:240500	TNFSF12	8742	HP:0005435	Impaired T cell function
OMIM:240500	TNFSF12	8742	HP:0001744	Splenomegaly
OMIM:240500	TNFSF12	8742	HP:0000007	Autosomal recessive inheritance
OMIM:240500	TNFSF12	8742	HP:0002837	Recurrent bronchitis
OMIM:240500	TNFSF12	8742	HP:0001287	Meningitis
OMIM:240500	TNFSF12	8742	HP:0002721	Immunodeficiency
OMIM:240500	TNFSF12	8742	HP:0000006	Autosomal dominant inheritance
OMIM:240500	TNFSF12	8742	HP:0002960	Autoimmunity
OMIM:240500	TNFSF12	8742	HP:0000403	Recurrent otitis media
OMIM:240500	TNFSF12	8742	HP:0002718	Recurrent bacterial infections
OMIM:240500	TNFSF12	8742	HP:0000509	Conjunctivitis
OMIM:240500	TNFSF12	8742	HP:0002014	Diarrhea
OMIM:240500	TNFSF12	8742	HP:0002240	Hepatomegaly
OMIM:240500	TNFSF12	8742	HP:0002716	Lymphadenopathy
OMIM:240500	TNFSF12	8742	HP:0004315	IgG deficiency
OMIM:240500	TNFSF12	8742	HP:0002665	Lymphoma
OMIM:240500	TNFSF12	8742	HP:0002110	Bronchiectasis
OMIM:240500	TNFSF12	8742	HP:0011108	Recurrent sinusitis
OMIM:240500	NFKB1	4790	HP:0006532	Recurrent pneumonia
OMIM:240500	NFKB1	4790	HP:0002664	Neoplasm
OMIM:240500	NFKB1	4790	HP:0005435	Impaired T cell function
OMIM:240500	NFKB1	4790	HP:0001744	Splenomegaly
OMIM:240500	NFKB1	4790	HP:0000007	Autosomal recessive inheritance
OMIM:240500	NFKB1	4790	HP:0002837	Recurrent bronchitis
OMIM:240500	NFKB1	4790	HP:0001287	Meningitis
OMIM:240500	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:240500	NFKB1	4790	HP:0000006	Autosomal dominant inheritance
OMIM:240500	NFKB1	4790	HP:0002960	Autoimmunity
OMIM:240500	NFKB1	4790	HP:0000403	Recurrent otitis media
OMIM:240500	NFKB1	4790	HP:0002718	Recurrent bacterial infections
OMIM:240500	NFKB1	4790	HP:0000509	Conjunctivitis
OMIM:240500	NFKB1	4790	HP:0002014	Diarrhea
OMIM:240500	NFKB1	4790	HP:0002240	Hepatomegaly
OMIM:240500	NFKB1	4790	HP:0002716	Lymphadenopathy
OMIM:240500	NFKB1	4790	HP:0004315	IgG deficiency
OMIM:240500	NFKB1	4790	HP:0002665	Lymphoma
OMIM:240500	NFKB1	4790	HP:0002110	Bronchiectasis
OMIM:240500	NFKB1	4790	HP:0011108	Recurrent sinusitis
OMIM:240500	TNFRSF13B	23495	HP:0006532	Recurrent pneumonia
OMIM:240500	TNFRSF13B	23495	HP:0002664	Neoplasm
OMIM:240500	TNFRSF13B	23495	HP:0005435	Impaired T cell function
OMIM:240500	TNFRSF13B	23495	HP:0001744	Splenomegaly
OMIM:240500	TNFRSF13B	23495	HP:0000007	Autosomal recessive inheritance
OMIM:240500	TNFRSF13B	23495	HP:0002837	Recurrent bronchitis
OMIM:240500	TNFRSF13B	23495	HP:0001287	Meningitis
OMIM:240500	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:240500	TNFRSF13B	23495	HP:0000006	Autosomal dominant inheritance
OMIM:240500	TNFRSF13B	23495	HP:0002960	Autoimmunity
OMIM:240500	TNFRSF13B	23495	HP:0000403	Recurrent otitis media
OMIM:240500	TNFRSF13B	23495	HP:0002718	Recurrent bacterial infections
OMIM:240500	TNFRSF13B	23495	HP:0000509	Conjunctivitis
OMIM:240500	TNFRSF13B	23495	HP:0002014	Diarrhea
OMIM:240500	TNFRSF13B	23495	HP:0002240	Hepatomegaly
OMIM:240500	TNFRSF13B	23495	HP:0002716	Lymphadenopathy
OMIM:240500	TNFRSF13B	23495	HP:0004315	IgG deficiency
OMIM:240500	TNFRSF13B	23495	HP:0002665	Lymphoma
OMIM:240500	TNFRSF13B	23495	HP:0002110	Bronchiectasis
OMIM:240500	TNFRSF13B	23495	HP:0011108	Recurrent sinusitis
OMIM:240500	NFKB2	4791	HP:0006532	Recurrent pneumonia
OMIM:240500	NFKB2	4791	HP:0002664	Neoplasm
OMIM:240500	NFKB2	4791	HP:0005435	Impaired T cell function
OMIM:240500	NFKB2	4791	HP:0001744	Splenomegaly
OMIM:240500	NFKB2	4791	HP:0000007	Autosomal recessive inheritance
OMIM:240500	NFKB2	4791	HP:0002837	Recurrent bronchitis
OMIM:240500	NFKB2	4791	HP:0001287	Meningitis
OMIM:240500	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:240500	NFKB2	4791	HP:0000006	Autosomal dominant inheritance
OMIM:240500	NFKB2	4791	HP:0002960	Autoimmunity
OMIM:240500	NFKB2	4791	HP:0000403	Recurrent otitis media
OMIM:240500	NFKB2	4791	HP:0002718	Recurrent bacterial infections
OMIM:240500	NFKB2	4791	HP:0000509	Conjunctivitis
OMIM:240500	NFKB2	4791	HP:0002014	Diarrhea
OMIM:240500	NFKB2	4791	HP:0002240	Hepatomegaly
OMIM:240500	NFKB2	4791	HP:0002716	Lymphadenopathy
OMIM:240500	NFKB2	4791	HP:0004315	IgG deficiency
OMIM:240500	NFKB2	4791	HP:0002665	Lymphoma
OMIM:240500	NFKB2	4791	HP:0002110	Bronchiectasis
OMIM:240500	NFKB2	4791	HP:0011108	Recurrent sinusitis
OMIM:240500	ICOS	29851	HP:0006532	Recurrent pneumonia
OMIM:240500	ICOS	29851	HP:0002664	Neoplasm
OMIM:240500	ICOS	29851	HP:0005435	Impaired T cell function
OMIM:240500	ICOS	29851	HP:0001744	Splenomegaly
OMIM:240500	ICOS	29851	HP:0000007	Autosomal recessive inheritance
OMIM:240500	ICOS	29851	HP:0002837	Recurrent bronchitis
OMIM:240500	ICOS	29851	HP:0001287	Meningitis
OMIM:240500	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:240500	ICOS	29851	HP:0000006	Autosomal dominant inheritance
OMIM:240500	ICOS	29851	HP:0002960	Autoimmunity
OMIM:240500	ICOS	29851	HP:0000403	Recurrent otitis media
OMIM:240500	ICOS	29851	HP:0002718	Recurrent bacterial infections
OMIM:240500	ICOS	29851	HP:0000509	Conjunctivitis
OMIM:240500	ICOS	29851	HP:0002014	Diarrhea
OMIM:240500	ICOS	29851	HP:0002240	Hepatomegaly
OMIM:240500	ICOS	29851	HP:0002716	Lymphadenopathy
OMIM:240500	ICOS	29851	HP:0004315	IgG deficiency
OMIM:240500	ICOS	29851	HP:0002665	Lymphoma
OMIM:240500	ICOS	29851	HP:0002110	Bronchiectasis
OMIM:240500	ICOS	29851	HP:0011108	Recurrent sinusitis
OMIM:240500	LRBA	987	HP:0006532	Recurrent pneumonia
OMIM:240500	LRBA	987	HP:0002664	Neoplasm
OMIM:240500	LRBA	987	HP:0005435	Impaired T cell function
OMIM:240500	LRBA	987	HP:0001744	Splenomegaly
OMIM:240500	LRBA	987	HP:0000007	Autosomal recessive inheritance
OMIM:240500	LRBA	987	HP:0002837	Recurrent bronchitis
OMIM:240500	LRBA	987	HP:0001287	Meningitis
OMIM:240500	LRBA	987	HP:0002721	Immunodeficiency
OMIM:240500	LRBA	987	HP:0000006	Autosomal dominant inheritance
OMIM:240500	LRBA	987	HP:0002960	Autoimmunity
OMIM:240500	LRBA	987	HP:0000403	Recurrent otitis media
OMIM:240500	LRBA	987	HP:0002718	Recurrent bacterial infections
OMIM:240500	LRBA	987	HP:0000509	Conjunctivitis
OMIM:240500	LRBA	987	HP:0002014	Diarrhea
OMIM:240500	LRBA	987	HP:0002240	Hepatomegaly
OMIM:240500	LRBA	987	HP:0002716	Lymphadenopathy
OMIM:240500	LRBA	987	HP:0004315	IgG deficiency
OMIM:240500	LRBA	987	HP:0002665	Lymphoma
OMIM:240500	LRBA	987	HP:0002110	Bronchiectasis
OMIM:240500	LRBA	987	HP:0011108	Recurrent sinusitis
OMIM:240500	PRKCD	5580	HP:0006532	Recurrent pneumonia
OMIM:240500	PRKCD	5580	HP:0002664	Neoplasm
OMIM:240500	PRKCD	5580	HP:0005435	Impaired T cell function
OMIM:240500	PRKCD	5580	HP:0001744	Splenomegaly
OMIM:240500	PRKCD	5580	HP:0000007	Autosomal recessive inheritance
OMIM:240500	PRKCD	5580	HP:0002837	Recurrent bronchitis
OMIM:240500	PRKCD	5580	HP:0001287	Meningitis
OMIM:240500	PRKCD	5580	HP:0002721	Immunodeficiency
OMIM:240500	PRKCD	5580	HP:0000006	Autosomal dominant inheritance
OMIM:240500	PRKCD	5580	HP:0002960	Autoimmunity
OMIM:240500	PRKCD	5580	HP:0000403	Recurrent otitis media
OMIM:240500	PRKCD	5580	HP:0002718	Recurrent bacterial infections
OMIM:240500	PRKCD	5580	HP:0000509	Conjunctivitis
OMIM:240500	PRKCD	5580	HP:0002014	Diarrhea
OMIM:240500	PRKCD	5580	HP:0002240	Hepatomegaly
OMIM:240500	PRKCD	5580	HP:0002716	Lymphadenopathy
OMIM:240500	PRKCD	5580	HP:0004315	IgG deficiency
OMIM:240500	PRKCD	5580	HP:0002665	Lymphoma
OMIM:240500	PRKCD	5580	HP:0002110	Bronchiectasis
OMIM:240500	PRKCD	5580	HP:0011108	Recurrent sinusitis
OMIM:240500	CD81	975	HP:0006532	Recurrent pneumonia
OMIM:240500	CD81	975	HP:0002664	Neoplasm
OMIM:240500	CD81	975	HP:0005435	Impaired T cell function
OMIM:240500	CD81	975	HP:0001744	Splenomegaly
OMIM:240500	CD81	975	HP:0000007	Autosomal recessive inheritance
OMIM:240500	CD81	975	HP:0002837	Recurrent bronchitis
OMIM:240500	CD81	975	HP:0001287	Meningitis
OMIM:240500	CD81	975	HP:0002721	Immunodeficiency
OMIM:240500	CD81	975	HP:0000006	Autosomal dominant inheritance
OMIM:240500	CD81	975	HP:0002960	Autoimmunity
OMIM:240500	CD81	975	HP:0000403	Recurrent otitis media
OMIM:240500	CD81	975	HP:0002718	Recurrent bacterial infections
OMIM:240500	CD81	975	HP:0000509	Conjunctivitis
OMIM:240500	CD81	975	HP:0002014	Diarrhea
OMIM:240500	CD81	975	HP:0002240	Hepatomegaly
OMIM:240500	CD81	975	HP:0002716	Lymphadenopathy
OMIM:240500	CD81	975	HP:0004315	IgG deficiency
OMIM:240500	CD81	975	HP:0002665	Lymphoma
OMIM:240500	CD81	975	HP:0002110	Bronchiectasis
OMIM:240500	CD81	975	HP:0011108	Recurrent sinusitis
OMIM:605808	HLA-A	3105	HP:0000505	Visual impairment
OMIM:605808	HLA-A	3105	HP:0000532	Chorioretinal abnormality
OMIM:605808	HLA-A	3105	HP:0000006	Autosomal dominant inheritance
OMIM:605808	HLA-A	3105	HP:0007722	Retinal pigment epithelial atrophy
OMIM:612997	SLC26A8	116369	HP:0000007	Autosomal recessive inheritance
OMIM:612997	SLC26A8	116369	HP:0003251	Male infertility
OMIM:612997	SEPT12	124404	HP:0000007	Autosomal recessive inheritance
OMIM:612997	SEPT12	124404	HP:0003251	Male infertility
OMIM:612997	CATSPER1	117144	HP:0000007	Autosomal recessive inheritance
OMIM:612997	CATSPER1	117144	HP:0003251	Male infertility
OMIM:612997	DNAH1	25981	HP:0000007	Autosomal recessive inheritance
OMIM:612997	DNAH1	25981	HP:0003251	Male infertility
OMIM:208150	MUSK	4593	HP:0000028	Cryptorchidism
OMIM:208150	MUSK	4593	HP:0000581	Blepharophimosis
OMIM:208150	MUSK	4593	HP:0012745	Short palpebral fissure
OMIM:208150	MUSK	4593	HP:0000347	Micrognathia
OMIM:208150	MUSK	4593	HP:0000508	Ptosis
OMIM:208150	MUSK	4593	HP:0000470	Short neck
OMIM:208150	MUSK	4593	HP:0000316	Hypertelorism
OMIM:208150	MUSK	4593	HP:0001321	Cerebellar hypoplasia
OMIM:208150	MUSK	4593	HP:0001511	Intrauterine growth retardation
OMIM:208150	MUSK	4593	HP:0001622	Premature birth
OMIM:208150	MUSK	4593	HP:0000007	Autosomal recessive inheritance
OMIM:208150	MUSK	4593	HP:0002089	Pulmonary hypoplasia
OMIM:208150	MUSK	4593	HP:0100490	Camptodactyly of finger
OMIM:208150	MUSK	4593	HP:0005257	Thoracic hypoplasia
OMIM:208150	MUSK	4593	HP:0001561	Polyhydramnios
OMIM:208150	MUSK	4593	HP:0003826	Stillbirth
OMIM:208150	MUSK	4593	HP:0000343	Long philtrum
OMIM:208150	MUSK	4593	HP:0001518	Small for gestational age
OMIM:208150	MUSK	4593	HP:0000520	Proptosis
OMIM:208150	MUSK	4593	HP:0000218	High palate
OMIM:208150	MUSK	4593	HP:0003100	Slender long bone
OMIM:208150	MUSK	4593	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:208150	MUSK	4593	HP:0002804	Arthrogryposis multiplex congenita
OMIM:208150	MUSK	4593	HP:0000175	Cleft palate
OMIM:208150	MUSK	4593	HP:0000358	Posteriorly rotated ears
OMIM:208150	MUSK	4593	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:208150	MUSK	4593	HP:0000160	Narrow mouth
OMIM:208150	MUSK	4593	HP:0001762	Talipes equinovarus
OMIM:208150	MUSK	4593	HP:0001838	Rocker bottom foot
OMIM:208150	MUSK	4593	HP:0000506	Telecanthus
OMIM:208150	MUSK	4593	HP:0000238	Hydrocephalus
OMIM:208150	MUSK	4593	HP:0001438	Abnormality of the abdomen
OMIM:208150	DOK7	285489	HP:0000028	Cryptorchidism
OMIM:208150	DOK7	285489	HP:0000581	Blepharophimosis
OMIM:208150	DOK7	285489	HP:0012745	Short palpebral fissure
OMIM:208150	DOK7	285489	HP:0000347	Micrognathia
OMIM:208150	DOK7	285489	HP:0000508	Ptosis
OMIM:208150	DOK7	285489	HP:0000470	Short neck
OMIM:208150	DOK7	285489	HP:0000316	Hypertelorism
OMIM:208150	DOK7	285489	HP:0001321	Cerebellar hypoplasia
OMIM:208150	DOK7	285489	HP:0001511	Intrauterine growth retardation
OMIM:208150	DOK7	285489	HP:0001622	Premature birth
OMIM:208150	DOK7	285489	HP:0000007	Autosomal recessive inheritance
OMIM:208150	DOK7	285489	HP:0002089	Pulmonary hypoplasia
OMIM:208150	DOK7	285489	HP:0100490	Camptodactyly of finger
OMIM:208150	DOK7	285489	HP:0005257	Thoracic hypoplasia
OMIM:208150	DOK7	285489	HP:0001561	Polyhydramnios
OMIM:208150	DOK7	285489	HP:0003826	Stillbirth
OMIM:208150	DOK7	285489	HP:0000343	Long philtrum
OMIM:208150	DOK7	285489	HP:0001518	Small for gestational age
OMIM:208150	DOK7	285489	HP:0000520	Proptosis
OMIM:208150	DOK7	285489	HP:0000218	High palate
OMIM:208150	DOK7	285489	HP:0003100	Slender long bone
OMIM:208150	DOK7	285489	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:208150	DOK7	285489	HP:0002804	Arthrogryposis multiplex congenita
OMIM:208150	DOK7	285489	HP:0000175	Cleft palate
OMIM:208150	DOK7	285489	HP:0000358	Posteriorly rotated ears
OMIM:208150	DOK7	285489	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:208150	DOK7	285489	HP:0000160	Narrow mouth
OMIM:208150	DOK7	285489	HP:0001762	Talipes equinovarus
OMIM:208150	DOK7	285489	HP:0001838	Rocker bottom foot
OMIM:208150	DOK7	285489	HP:0000506	Telecanthus
OMIM:208150	DOK7	285489	HP:0000238	Hydrocephalus
OMIM:208150	DOK7	285489	HP:0001438	Abnormality of the abdomen
OMIM:208150	RAPSN	5913	HP:0000028	Cryptorchidism
OMIM:208150	RAPSN	5913	HP:0000581	Blepharophimosis
OMIM:208150	RAPSN	5913	HP:0012745	Short palpebral fissure
OMIM:208150	RAPSN	5913	HP:0000347	Micrognathia
OMIM:208150	RAPSN	5913	HP:0000508	Ptosis
OMIM:208150	RAPSN	5913	HP:0000470	Short neck
OMIM:208150	RAPSN	5913	HP:0000316	Hypertelorism
OMIM:208150	RAPSN	5913	HP:0001321	Cerebellar hypoplasia
OMIM:208150	RAPSN	5913	HP:0001511	Intrauterine growth retardation
OMIM:208150	RAPSN	5913	HP:0001622	Premature birth
OMIM:208150	RAPSN	5913	HP:0000007	Autosomal recessive inheritance
OMIM:208150	RAPSN	5913	HP:0002089	Pulmonary hypoplasia
OMIM:208150	RAPSN	5913	HP:0100490	Camptodactyly of finger
OMIM:208150	RAPSN	5913	HP:0005257	Thoracic hypoplasia
OMIM:208150	RAPSN	5913	HP:0001561	Polyhydramnios
OMIM:208150	RAPSN	5913	HP:0003826	Stillbirth
OMIM:208150	RAPSN	5913	HP:0000343	Long philtrum
OMIM:208150	RAPSN	5913	HP:0001518	Small for gestational age
OMIM:208150	RAPSN	5913	HP:0000520	Proptosis
OMIM:208150	RAPSN	5913	HP:0000218	High palate
OMIM:208150	RAPSN	5913	HP:0003100	Slender long bone
OMIM:208150	RAPSN	5913	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:208150	RAPSN	5913	HP:0002804	Arthrogryposis multiplex congenita
OMIM:208150	RAPSN	5913	HP:0000175	Cleft palate
OMIM:208150	RAPSN	5913	HP:0000358	Posteriorly rotated ears
OMIM:208150	RAPSN	5913	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:208150	RAPSN	5913	HP:0000160	Narrow mouth
OMIM:208150	RAPSN	5913	HP:0001762	Talipes equinovarus
OMIM:208150	RAPSN	5913	HP:0001838	Rocker bottom foot
OMIM:208150	RAPSN	5913	HP:0000506	Telecanthus
OMIM:208150	RAPSN	5913	HP:0000238	Hydrocephalus
OMIM:208150	RAPSN	5913	HP:0001438	Abnormality of the abdomen
OMIM:614842	PROK2	60675	HP:0000458	Anosmia
OMIM:614842	PROK2	60675	HP:0000013	Hypoplasia of the uterus
OMIM:614842	PROK2	60675	HP:0002750	Delayed skeletal maturation
OMIM:614842	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	PROK2	60675	HP:0000007	Autosomal recessive inheritance
OMIM:614842	PROKR2	128674	HP:0000458	Anosmia
OMIM:614842	PROKR2	128674	HP:0000013	Hypoplasia of the uterus
OMIM:614842	PROKR2	128674	HP:0002750	Delayed skeletal maturation
OMIM:614842	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	PROKR2	128674	HP:0000007	Autosomal recessive inheritance
OMIM:614842	WDR11	55717	HP:0000458	Anosmia
OMIM:614842	WDR11	55717	HP:0000013	Hypoplasia of the uterus
OMIM:614842	WDR11	55717	HP:0002750	Delayed skeletal maturation
OMIM:614842	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	WDR11	55717	HP:0000007	Autosomal recessive inheritance
OMIM:614842	KISS1	3814	HP:0000458	Anosmia
OMIM:614842	KISS1	3814	HP:0000013	Hypoplasia of the uterus
OMIM:614842	KISS1	3814	HP:0002750	Delayed skeletal maturation
OMIM:614842	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	KISS1	3814	HP:0000007	Autosomal recessive inheritance
OMIM:614842	GNRH1	2796	HP:0000458	Anosmia
OMIM:614842	GNRH1	2796	HP:0000013	Hypoplasia of the uterus
OMIM:614842	GNRH1	2796	HP:0002750	Delayed skeletal maturation
OMIM:614842	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	GNRH1	2796	HP:0000007	Autosomal recessive inheritance
OMIM:614842	FGF8	2253	HP:0000458	Anosmia
OMIM:614842	FGF8	2253	HP:0000013	Hypoplasia of the uterus
OMIM:614842	FGF8	2253	HP:0002750	Delayed skeletal maturation
OMIM:614842	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	FGF8	2253	HP:0000007	Autosomal recessive inheritance
OMIM:614842	GNRHR	2798	HP:0000458	Anosmia
OMIM:614842	GNRHR	2798	HP:0000013	Hypoplasia of the uterus
OMIM:614842	GNRHR	2798	HP:0002750	Delayed skeletal maturation
OMIM:614842	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	GNRHR	2798	HP:0000007	Autosomal recessive inheritance
OMIM:614842	ANOS1	3730	HP:0000458	Anosmia
OMIM:614842	ANOS1	3730	HP:0000013	Hypoplasia of the uterus
OMIM:614842	ANOS1	3730	HP:0002750	Delayed skeletal maturation
OMIM:614842	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	ANOS1	3730	HP:0000007	Autosomal recessive inheritance
OMIM:614842	TAC3	6866	HP:0000458	Anosmia
OMIM:614842	TAC3	6866	HP:0000013	Hypoplasia of the uterus
OMIM:614842	TAC3	6866	HP:0002750	Delayed skeletal maturation
OMIM:614842	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	TAC3	6866	HP:0000007	Autosomal recessive inheritance
OMIM:614842	HS6ST1	9394	HP:0000458	Anosmia
OMIM:614842	HS6ST1	9394	HP:0000013	Hypoplasia of the uterus
OMIM:614842	HS6ST1	9394	HP:0002750	Delayed skeletal maturation
OMIM:614842	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	HS6ST1	9394	HP:0000007	Autosomal recessive inheritance
OMIM:614842	CHD7	55636	HP:0000458	Anosmia
OMIM:614842	CHD7	55636	HP:0000013	Hypoplasia of the uterus
OMIM:614842	CHD7	55636	HP:0002750	Delayed skeletal maturation
OMIM:614842	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	CHD7	55636	HP:0000007	Autosomal recessive inheritance
OMIM:614842	FGFR1	2260	HP:0000458	Anosmia
OMIM:614842	FGFR1	2260	HP:0000013	Hypoplasia of the uterus
OMIM:614842	FGFR1	2260	HP:0002750	Delayed skeletal maturation
OMIM:614842	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	FGFR1	2260	HP:0000007	Autosomal recessive inheritance
OMIM:614842	TACR3	6870	HP:0000458	Anosmia
OMIM:614842	TACR3	6870	HP:0000013	Hypoplasia of the uterus
OMIM:614842	TACR3	6870	HP:0002750	Delayed skeletal maturation
OMIM:614842	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	TACR3	6870	HP:0000007	Autosomal recessive inheritance
OMIM:614842	FGF17	8822	HP:0000458	Anosmia
OMIM:614842	FGF17	8822	HP:0000013	Hypoplasia of the uterus
OMIM:614842	FGF17	8822	HP:0002750	Delayed skeletal maturation
OMIM:614842	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	FGF17	8822	HP:0000007	Autosomal recessive inheritance
OMIM:614842	DUSP6	1848	HP:0000458	Anosmia
OMIM:614842	DUSP6	1848	HP:0000013	Hypoplasia of the uterus
OMIM:614842	DUSP6	1848	HP:0002750	Delayed skeletal maturation
OMIM:614842	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	DUSP6	1848	HP:0000007	Autosomal recessive inheritance
OMIM:614842	SPRY4	81848	HP:0000458	Anosmia
OMIM:614842	SPRY4	81848	HP:0000013	Hypoplasia of the uterus
OMIM:614842	SPRY4	81848	HP:0002750	Delayed skeletal maturation
OMIM:614842	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	SPRY4	81848	HP:0000007	Autosomal recessive inheritance
OMIM:614842	KISS1R	84634	HP:0000458	Anosmia
OMIM:614842	KISS1R	84634	HP:0000013	Hypoplasia of the uterus
OMIM:614842	KISS1R	84634	HP:0002750	Delayed skeletal maturation
OMIM:614842	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	KISS1R	84634	HP:0000007	Autosomal recessive inheritance
OMIM:614842	NSMF	26012	HP:0000458	Anosmia
OMIM:614842	NSMF	26012	HP:0000013	Hypoplasia of the uterus
OMIM:614842	NSMF	26012	HP:0002750	Delayed skeletal maturation
OMIM:614842	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614842	NSMF	26012	HP:0000007	Autosomal recessive inheritance
OMIM:615369	SLC6A1	6529	HP:0000006	Autosomal dominant inheritance
OMIM:615369	SLC6A1	6529	HP:0000992	Cutaneous photosensitivity
OMIM:615369	SLC6A1	6529	HP:0002373	Febrile seizures
OMIM:615369	SLC6A1	6529	HP:0200134	Epileptic encephalopathy
OMIM:615369	SLC6A1	6529	HP:0002123	Generalized myoclonic seizures
OMIM:615369	SLC6A1	6529	HP:0010819	Atonic seizures
OMIM:615369	SLC6A1	6529	HP:0002353	EEG abnormality
OMIM:615369	SLC6A1	6529	HP:0002121	Absence seizures
OMIM:615369	SLC6A1	6529	HP:0001249	Intellectual disability
OMIM:615369	SLC6A1	6529	HP:0001263	Global developmental delay
OMIM:615369	SLC6A1	6529	HP:0000729	Autistic behavior
OMIM:615369	SLC6A1	6529	HP:0002376	Developmental regression
OMIM:615369	SLC6A1	6529	HP:0002133	Status epilepticus
OMIM:615369	CHD2	1106	HP:0000006	Autosomal dominant inheritance
OMIM:615369	CHD2	1106	HP:0000992	Cutaneous photosensitivity
OMIM:615369	CHD2	1106	HP:0002373	Febrile seizures
OMIM:615369	CHD2	1106	HP:0200134	Epileptic encephalopathy
OMIM:615369	CHD2	1106	HP:0002123	Generalized myoclonic seizures
OMIM:615369	CHD2	1106	HP:0010819	Atonic seizures
OMIM:615369	CHD2	1106	HP:0002353	EEG abnormality
OMIM:615369	CHD2	1106	HP:0002121	Absence seizures
OMIM:615369	CHD2	1106	HP:0001249	Intellectual disability
OMIM:615369	CHD2	1106	HP:0001263	Global developmental delay
OMIM:615369	CHD2	1106	HP:0000729	Autistic behavior
OMIM:615369	CHD2	1106	HP:0002376	Developmental regression
OMIM:615369	CHD2	1106	HP:0002133	Status epilepticus
OMIM:615369	MAPK10	5602	HP:0000006	Autosomal dominant inheritance
OMIM:615369	MAPK10	5602	HP:0000992	Cutaneous photosensitivity
OMIM:615369	MAPK10	5602	HP:0002373	Febrile seizures
OMIM:615369	MAPK10	5602	HP:0200134	Epileptic encephalopathy
OMIM:615369	MAPK10	5602	HP:0002123	Generalized myoclonic seizures
OMIM:615369	MAPK10	5602	HP:0010819	Atonic seizures
OMIM:615369	MAPK10	5602	HP:0002353	EEG abnormality
OMIM:615369	MAPK10	5602	HP:0002121	Absence seizures
OMIM:615369	MAPK10	5602	HP:0001249	Intellectual disability
OMIM:615369	MAPK10	5602	HP:0001263	Global developmental delay
OMIM:615369	MAPK10	5602	HP:0000729	Autistic behavior
OMIM:615369	MAPK10	5602	HP:0002376	Developmental regression
OMIM:615369	MAPK10	5602	HP:0002133	Status epilepticus
OMIM:615369	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:615369	SCN1A	6323	HP:0000992	Cutaneous photosensitivity
OMIM:615369	SCN1A	6323	HP:0002373	Febrile seizures
OMIM:615369	SCN1A	6323	HP:0200134	Epileptic encephalopathy
OMIM:615369	SCN1A	6323	HP:0002123	Generalized myoclonic seizures
OMIM:615369	SCN1A	6323	HP:0010819	Atonic seizures
OMIM:615369	SCN1A	6323	HP:0002353	EEG abnormality
OMIM:615369	SCN1A	6323	HP:0002121	Absence seizures
OMIM:615369	SCN1A	6323	HP:0001249	Intellectual disability
OMIM:615369	SCN1A	6323	HP:0001263	Global developmental delay
OMIM:615369	SCN1A	6323	HP:0000729	Autistic behavior
OMIM:615369	SCN1A	6323	HP:0002376	Developmental regression
OMIM:615369	SCN1A	6323	HP:0002133	Status epilepticus
OMIM:615369	DNM1	1759	HP:0000006	Autosomal dominant inheritance
OMIM:615369	DNM1	1759	HP:0000992	Cutaneous photosensitivity
OMIM:615369	DNM1	1759	HP:0002373	Febrile seizures
OMIM:615369	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:615369	DNM1	1759	HP:0002123	Generalized myoclonic seizures
OMIM:615369	DNM1	1759	HP:0010819	Atonic seizures
OMIM:615369	DNM1	1759	HP:0002353	EEG abnormality
OMIM:615369	DNM1	1759	HP:0002121	Absence seizures
OMIM:615369	DNM1	1759	HP:0001249	Intellectual disability
OMIM:615369	DNM1	1759	HP:0001263	Global developmental delay
OMIM:615369	DNM1	1759	HP:0000729	Autistic behavior
OMIM:615369	DNM1	1759	HP:0002376	Developmental regression
OMIM:615369	DNM1	1759	HP:0002133	Status epilepticus
OMIM:248600	BCKDHA	593	HP:0001250	Seizures
OMIM:248600	BCKDHA	593	HP:0001252	Muscular hypotonia
OMIM:248600	BCKDHA	593	HP:0002013	Vomiting
OMIM:248600	BCKDHA	593	HP:0002181	Cerebral edema
OMIM:248600	BCKDHA	593	HP:0003128	Lactic acidosis
OMIM:248600	BCKDHA	593	HP:0001507	Growth abnormality
OMIM:248600	BCKDHA	593	HP:0001733	Pancreatitis
OMIM:248600	BCKDHA	593	HP:0008872	Feeding difficulties in infancy
OMIM:248600	BCKDHA	593	HP:0000007	Autosomal recessive inheritance
OMIM:248600	BCKDHA	593	HP:0001251	Ataxia
OMIM:248600	BCKDHA	593	HP:0001276	Hypertonia
OMIM:248600	BCKDHA	593	HP:0001943	Hypoglycemia
OMIM:248600	BCKDHA	593	HP:0000738	Hallucinations
OMIM:248600	BCKDHA	593	HP:0001259	Coma
OMIM:248600	BCKDHA	593	HP:0001946	Ketosis
OMIM:248600	BCKDHA	593	HP:0001249	Intellectual disability
OMIM:248600	BCKDHA	593	HP:0001254	Lethargy
OMIM:248600	BCKDHB	594	HP:0001250	Seizures
OMIM:248600	BCKDHB	594	HP:0001252	Muscular hypotonia
OMIM:248600	BCKDHB	594	HP:0002013	Vomiting
OMIM:248600	BCKDHB	594	HP:0002181	Cerebral edema
OMIM:248600	BCKDHB	594	HP:0003128	Lactic acidosis
OMIM:248600	BCKDHB	594	HP:0001507	Growth abnormality
OMIM:248600	BCKDHB	594	HP:0001733	Pancreatitis
OMIM:248600	BCKDHB	594	HP:0008872	Feeding difficulties in infancy
OMIM:248600	BCKDHB	594	HP:0000007	Autosomal recessive inheritance
OMIM:248600	BCKDHB	594	HP:0001251	Ataxia
OMIM:248600	BCKDHB	594	HP:0001276	Hypertonia
OMIM:248600	BCKDHB	594	HP:0001943	Hypoglycemia
OMIM:248600	BCKDHB	594	HP:0000738	Hallucinations
OMIM:248600	BCKDHB	594	HP:0001259	Coma
OMIM:248600	BCKDHB	594	HP:0001946	Ketosis
OMIM:248600	BCKDHB	594	HP:0001249	Intellectual disability
OMIM:248600	BCKDHB	594	HP:0001254	Lethargy
OMIM:248600	PPM1K	152926	HP:0001250	Seizures
OMIM:248600	PPM1K	152926	HP:0001252	Muscular hypotonia
OMIM:248600	PPM1K	152926	HP:0002013	Vomiting
OMIM:248600	PPM1K	152926	HP:0002181	Cerebral edema
OMIM:248600	PPM1K	152926	HP:0003128	Lactic acidosis
OMIM:248600	PPM1K	152926	HP:0001507	Growth abnormality
OMIM:248600	PPM1K	152926	HP:0001733	Pancreatitis
OMIM:248600	PPM1K	152926	HP:0008872	Feeding difficulties in infancy
OMIM:248600	PPM1K	152926	HP:0000007	Autosomal recessive inheritance
OMIM:248600	PPM1K	152926	HP:0001251	Ataxia
OMIM:248600	PPM1K	152926	HP:0001276	Hypertonia
OMIM:248600	PPM1K	152926	HP:0001943	Hypoglycemia
OMIM:248600	PPM1K	152926	HP:0000738	Hallucinations
OMIM:248600	PPM1K	152926	HP:0001259	Coma
OMIM:248600	PPM1K	152926	HP:0001946	Ketosis
OMIM:248600	PPM1K	152926	HP:0001249	Intellectual disability
OMIM:248600	PPM1K	152926	HP:0001254	Lethargy
OMIM:248600	DBT	1629	HP:0001250	Seizures
OMIM:248600	DBT	1629	HP:0001252	Muscular hypotonia
OMIM:248600	DBT	1629	HP:0002013	Vomiting
OMIM:248600	DBT	1629	HP:0002181	Cerebral edema
OMIM:248600	DBT	1629	HP:0003128	Lactic acidosis
OMIM:248600	DBT	1629	HP:0001507	Growth abnormality
OMIM:248600	DBT	1629	HP:0001733	Pancreatitis
OMIM:248600	DBT	1629	HP:0008872	Feeding difficulties in infancy
OMIM:248600	DBT	1629	HP:0000007	Autosomal recessive inheritance
OMIM:248600	DBT	1629	HP:0001251	Ataxia
OMIM:248600	DBT	1629	HP:0001276	Hypertonia
OMIM:248600	DBT	1629	HP:0001943	Hypoglycemia
OMIM:248600	DBT	1629	HP:0000738	Hallucinations
OMIM:248600	DBT	1629	HP:0001259	Coma
OMIM:248600	DBT	1629	HP:0001946	Ketosis
OMIM:248600	DBT	1629	HP:0001249	Intellectual disability
OMIM:248600	DBT	1629	HP:0001254	Lethargy
OMIM:173650	FERMT1	55612	HP:0001741	Phimosis
OMIM:173650	FERMT1	55612	HP:0004334	Dermal atrophy
OMIM:173650	FERMT1	55612	HP:0000670	Carious teeth
OMIM:173650	FERMT1	55612	HP:0001030	Fragile skin
OMIM:173650	FERMT1	55612	HP:0000007	Autosomal recessive inheritance
OMIM:173650	FERMT1	55612	HP:0000704	Periodontitis
OMIM:173650	FERMT1	55612	HP:0000992	Cutaneous photosensitivity
OMIM:238320	LHCGR	3973	HP:0000815	Hypergonadotropic hypogonadism
OMIM:238320	LHCGR	3973	HP:0000007	Autosomal recessive inheritance
OMIM:300073	MUSK	4593	HP:0001274	Agenesis of corpus callosum
OMIM:300073	MUSK	4593	HP:0000506	Telecanthus
OMIM:300073	MUSK	4593	HP:0003826	Stillbirth
OMIM:300073	MUSK	4593	HP:0000581	Blepharophimosis
OMIM:300073	MUSK	4593	HP:0001417	X-linked inheritance
OMIM:300073	MUSK	4593	HP:0001561	Polyhydramnios
OMIM:300073	DOK7	285489	HP:0001274	Agenesis of corpus callosum
OMIM:300073	DOK7	285489	HP:0000506	Telecanthus
OMIM:300073	DOK7	285489	HP:0003826	Stillbirth
OMIM:300073	DOK7	285489	HP:0000581	Blepharophimosis
OMIM:300073	DOK7	285489	HP:0001417	X-linked inheritance
OMIM:300073	DOK7	285489	HP:0001561	Polyhydramnios
OMIM:300073	RAPSN	5913	HP:0001274	Agenesis of corpus callosum
OMIM:300073	RAPSN	5913	HP:0000506	Telecanthus
OMIM:300073	RAPSN	5913	HP:0003826	Stillbirth
OMIM:300073	RAPSN	5913	HP:0000581	Blepharophimosis
OMIM:300073	RAPSN	5913	HP:0001417	X-linked inheritance
OMIM:300073	RAPSN	5913	HP:0001561	Polyhydramnios
OMIM:615925	GHSR	2693	HP:0002750	Delayed skeletal maturation
OMIM:615925	GHSR	2693	HP:0004322	Short stature
OMIM:615925	GHSR	2693	HP:0000007	Autosomal recessive inheritance
OMIM:615925	GHSR	2693	HP:0000006	Autosomal dominant inheritance
OMIM:615925	GHSR	2693	HP:0008897	Postnatal growth retardation
ORPHANET:86814	CNTN2	6900	HP:0001337	Tremor
ORPHANET:86814	CNTN2	6900	HP:0100576	Amaurosis fugax
ORPHANET:86814	CNTN2	6900	HP:0002353	EEG abnormality
ORPHANET:86814	CNTN2	6900	HP:0002076	Migraine
ORPHANET:86814	CNTN2	6900	HP:0004305	Involuntary movements
ORPHANET:86814	CNTN2	6900	HP:0001250	Seizures
ORPHANET:86814	CNTN2	6900	HP:0100543	Cognitive impairment
ORPHANET:86814	ADRA2B	151	HP:0001337	Tremor
ORPHANET:86814	ADRA2B	151	HP:0100576	Amaurosis fugax
ORPHANET:86814	ADRA2B	151	HP:0002353	EEG abnormality
ORPHANET:86814	ADRA2B	151	HP:0002076	Migraine
ORPHANET:86814	ADRA2B	151	HP:0004305	Involuntary movements
ORPHANET:86814	ADRA2B	151	HP:0001250	Seizures
ORPHANET:86814	ADRA2B	151	HP:0100543	Cognitive impairment
OMIM:613783	C4A	720	HP:0012115	Hepatitis
OMIM:613783	C4A	720	HP:0005339	Abnormality of complement system
OMIM:613783	C4A	720	HP:0002725	Systemic lupus erythematosus
OMIM:613783	C4B	721	HP:0012115	Hepatitis
OMIM:613783	C4B	721	HP:0005339	Abnormality of complement system
OMIM:613783	C4B	721	HP:0002725	Systemic lupus erythematosus
OMIM:613783	SERPING1	710	HP:0012115	Hepatitis
OMIM:613783	SERPING1	710	HP:0005339	Abnormality of complement system
OMIM:613783	SERPING1	710	HP:0002725	Systemic lupus erythematosus
OMIM:613783	C1QA	712	HP:0012115	Hepatitis
OMIM:613783	C1QA	712	HP:0005339	Abnormality of complement system
OMIM:613783	C1QA	712	HP:0002725	Systemic lupus erythematosus
OMIM:613783	C1QB	713	HP:0012115	Hepatitis
OMIM:613783	C1QB	713	HP:0005339	Abnormality of complement system
OMIM:613783	C1QB	713	HP:0002725	Systemic lupus erythematosus
OMIM:613783	C1QC	714	HP:0012115	Hepatitis
OMIM:613783	C1QC	714	HP:0005339	Abnormality of complement system
OMIM:613783	C1QC	714	HP:0002725	Systemic lupus erythematosus
OMIM:613783	C1R	715	HP:0012115	Hepatitis
OMIM:613783	C1R	715	HP:0005339	Abnormality of complement system
OMIM:613783	C1R	715	HP:0002725	Systemic lupus erythematosus
OMIM:613783	C1S	716	HP:0012115	Hepatitis
OMIM:613783	C1S	716	HP:0005339	Abnormality of complement system
OMIM:613783	C1S	716	HP:0002725	Systemic lupus erythematosus
OMIM:613783	C2	717	HP:0012115	Hepatitis
OMIM:613783	C2	717	HP:0005339	Abnormality of complement system
OMIM:613783	C2	717	HP:0002725	Systemic lupus erythematosus
OMIM:132700	CYLD	1540	HP:0008069	Neoplasm of the skin
OMIM:132700	CYLD	1540	HP:0000006	Autosomal dominant inheritance
OMIM:132700	CYLD	1540	HP:0003581	Adult onset
OMIM:132700	CYLD	1540	HP:0100585	Telangiectasia of the skin
OMIM:609706	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:609706	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:609706	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:609706	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:609706	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:609706	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:609706	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:609706	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:609706	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:609706	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:609706	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:609706	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:609706	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:609706	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:609706	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:609706	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:609706	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:609706	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:609706	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:609706	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:609706	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:609706	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:609706	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:609706	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:609706	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:609706	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:609706	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:609706	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:609706	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:609706	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:609706	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:609706	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:609706	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:609706	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:609706	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:609706	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:609706	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:609706	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:609706	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:609706	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:609706	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:609706	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:609706	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:609706	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:609706	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:609706	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:609706	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:609706	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:609706	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:609706	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:609706	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:609706	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:609706	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:609706	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:609706	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:609706	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:609706	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:609706	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:609706	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:609706	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:609706	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:609706	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:609706	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:609706	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:609706	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:609706	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:609706	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:609706	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:609706	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:609706	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:609706	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:609706	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:609706	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:609706	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:609706	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:609706	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:609706	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:609706	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:609706	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:609706	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:609706	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:609706	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:609706	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:609706	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:609706	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:609706	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:609706	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:609706	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:609706	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:609706	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:609706	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:609706	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:609706	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:609706	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:609706	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:609706	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:609706	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:609706	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:609706	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:609706	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:609706	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:609706	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:609706	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:609706	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:609706	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:609706	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:609706	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:609706	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:609706	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:609706	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:609706	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:609706	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:609706	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:609706	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:609706	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:609706	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:609706	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:609706	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:609706	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:609706	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:300085	GUCA1A	2978	HP:0001417	X-linked inheritance
OMIM:300085	GUCA1A	2978	HP:0008020	Progressive cone degeneration
OMIM:300085	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:300085	CNGB3	54714	HP:0001417	X-linked inheritance
OMIM:300085	CNGB3	54714	HP:0008020	Progressive cone degeneration
OMIM:300085	CNGB3	54714	HP:0000548	Cone/cone-rod dystrophy
OMIM:300085	PDE6C	5146	HP:0001417	X-linked inheritance
OMIM:300085	PDE6C	5146	HP:0008020	Progressive cone degeneration
OMIM:300085	PDE6C	5146	HP:0000548	Cone/cone-rod dystrophy
OMIM:300085	GNAT2	2780	HP:0001417	X-linked inheritance
OMIM:300085	GNAT2	2780	HP:0008020	Progressive cone degeneration
OMIM:300085	GNAT2	2780	HP:0000548	Cone/cone-rod dystrophy
OMIM:314980	ZFX	7543	HP:0001417	X-linked inheritance
OMIM:615376	PLEKHG5	57449	HP:0000007	Autosomal recessive inheritance
OMIM:615376	PLEKHG5	57449	HP:0001765	Hammertoe
OMIM:615376	PLEKHG5	57449	HP:0001761	Pes cavus
OMIM:615376	PLEKHG5	57449	HP:0001284	Areflexia
OMIM:615376	PLEKHG5	57449	HP:0002936	Distal sensory impairment
OMIM:615376	PLEKHG5	57449	HP:0002460	Distal muscle weakness
OMIM:615376	PLEKHG5	57449	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:300500	GPR143	4935	HP:0000505	Visual impairment
OMIM:300500	GPR143	4935	HP:0001107	Ocular albinism
OMIM:300500	GPR143	4935	HP:0000613	Photophobia
OMIM:300500	GPR143	4935	HP:0000486	Strabismus
OMIM:300500	GPR143	4935	HP:0000483	Astigmatism
OMIM:300500	GPR143	4935	HP:0000615	Abnormality of the pupil
OMIM:300500	GPR143	4935	HP:0000639	Nystagmus
OMIM:300500	GPR143	4935	HP:0001480	Freckling
OMIM:300500	GPR143	4935	HP:0008069	Neoplasm of the skin
OMIM:300500	GPR143	4935	HP:0005592	Giant melanosomes in melanocytes
OMIM:300500	GPR143	4935	HP:0001417	X-linked inheritance
OMIM:300500	GPR143	4935	HP:0000545	Myopia
OMIM:300500	GPR143	4935	HP:0001103	Abnormality of the macula
OMIM:242100	ALOXE3	59344	HP:0003470	Paralysis
OMIM:242100	ALOXE3	59344	HP:0009381	Short finger
OMIM:242100	ALOXE3	59344	HP:0001831	Short toe
OMIM:242100	ALOXE3	59344	HP:0003241	External genital hypoplasia
OMIM:242100	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:242100	ALOXE3	59344	HP:0000232	Everted lower lip vermilion
OMIM:242100	ALOXE3	59344	HP:0000982	Palmoplantar keratoderma
OMIM:242100	ALOXE3	59344	HP:0000966	Hypohidrosis
OMIM:242100	ALOXE3	59344	HP:0001595	Abnormality of the hair
OMIM:242100	ALOXE3	59344	HP:0001249	Intellectual disability
OMIM:242100	ALOXE3	59344	HP:0001792	Small nail
OMIM:242100	ALOXE3	59344	HP:0001816	Thin nail
OMIM:242100	ALOXE3	59344	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242100	ALOXE3	59344	HP:0001510	Growth delay
OMIM:242100	ALOX12B	242	HP:0003470	Paralysis
OMIM:242100	ALOX12B	242	HP:0009381	Short finger
OMIM:242100	ALOX12B	242	HP:0001831	Short toe
OMIM:242100	ALOX12B	242	HP:0003241	External genital hypoplasia
OMIM:242100	ALOX12B	242	HP:0000007	Autosomal recessive inheritance
OMIM:242100	ALOX12B	242	HP:0000232	Everted lower lip vermilion
OMIM:242100	ALOX12B	242	HP:0000982	Palmoplantar keratoderma
OMIM:242100	ALOX12B	242	HP:0000966	Hypohidrosis
OMIM:242100	ALOX12B	242	HP:0001595	Abnormality of the hair
OMIM:242100	ALOX12B	242	HP:0001249	Intellectual disability
OMIM:242100	ALOX12B	242	HP:0001792	Small nail
OMIM:242100	ALOX12B	242	HP:0001816	Thin nail
OMIM:242100	ALOX12B	242	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242100	ALOX12B	242	HP:0001510	Growth delay
OMIM:242100	CERS3	204219	HP:0003470	Paralysis
OMIM:242100	CERS3	204219	HP:0009381	Short finger
OMIM:242100	CERS3	204219	HP:0001831	Short toe
OMIM:242100	CERS3	204219	HP:0003241	External genital hypoplasia
OMIM:242100	CERS3	204219	HP:0000007	Autosomal recessive inheritance
OMIM:242100	CERS3	204219	HP:0000232	Everted lower lip vermilion
OMIM:242100	CERS3	204219	HP:0000982	Palmoplantar keratoderma
OMIM:242100	CERS3	204219	HP:0000966	Hypohidrosis
OMIM:242100	CERS3	204219	HP:0001595	Abnormality of the hair
OMIM:242100	CERS3	204219	HP:0001249	Intellectual disability
OMIM:242100	CERS3	204219	HP:0001792	Small nail
OMIM:242100	CERS3	204219	HP:0001816	Thin nail
OMIM:242100	CERS3	204219	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242100	CERS3	204219	HP:0001510	Growth delay
OMIM:242100	ABCA12	26154	HP:0003470	Paralysis
OMIM:242100	ABCA12	26154	HP:0009381	Short finger
OMIM:242100	ABCA12	26154	HP:0001831	Short toe
OMIM:242100	ABCA12	26154	HP:0003241	External genital hypoplasia
OMIM:242100	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:242100	ABCA12	26154	HP:0000232	Everted lower lip vermilion
OMIM:242100	ABCA12	26154	HP:0000982	Palmoplantar keratoderma
OMIM:242100	ABCA12	26154	HP:0000966	Hypohidrosis
OMIM:242100	ABCA12	26154	HP:0001595	Abnormality of the hair
OMIM:242100	ABCA12	26154	HP:0001249	Intellectual disability
OMIM:242100	ABCA12	26154	HP:0001792	Small nail
OMIM:242100	ABCA12	26154	HP:0001816	Thin nail
OMIM:242100	ABCA12	26154	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242100	ABCA12	26154	HP:0001510	Growth delay
OMIM:242100	TGM1	7051	HP:0003470	Paralysis
OMIM:242100	TGM1	7051	HP:0009381	Short finger
OMIM:242100	TGM1	7051	HP:0001831	Short toe
OMIM:242100	TGM1	7051	HP:0003241	External genital hypoplasia
OMIM:242100	TGM1	7051	HP:0000007	Autosomal recessive inheritance
OMIM:242100	TGM1	7051	HP:0000232	Everted lower lip vermilion
OMIM:242100	TGM1	7051	HP:0000982	Palmoplantar keratoderma
OMIM:242100	TGM1	7051	HP:0000966	Hypohidrosis
OMIM:242100	TGM1	7051	HP:0001595	Abnormality of the hair
OMIM:242100	TGM1	7051	HP:0001249	Intellectual disability
OMIM:242100	TGM1	7051	HP:0001792	Small nail
OMIM:242100	TGM1	7051	HP:0001816	Thin nail
OMIM:242100	TGM1	7051	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242100	TGM1	7051	HP:0001510	Growth delay
OMIM:242100	PNPLA1	285848	HP:0003470	Paralysis
OMIM:242100	PNPLA1	285848	HP:0009381	Short finger
OMIM:242100	PNPLA1	285848	HP:0001831	Short toe
OMIM:242100	PNPLA1	285848	HP:0003241	External genital hypoplasia
OMIM:242100	PNPLA1	285848	HP:0000007	Autosomal recessive inheritance
OMIM:242100	PNPLA1	285848	HP:0000232	Everted lower lip vermilion
OMIM:242100	PNPLA1	285848	HP:0000982	Palmoplantar keratoderma
OMIM:242100	PNPLA1	285848	HP:0000966	Hypohidrosis
OMIM:242100	PNPLA1	285848	HP:0001595	Abnormality of the hair
OMIM:242100	PNPLA1	285848	HP:0001249	Intellectual disability
OMIM:242100	PNPLA1	285848	HP:0001792	Small nail
OMIM:242100	PNPLA1	285848	HP:0001816	Thin nail
OMIM:242100	PNPLA1	285848	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242100	PNPLA1	285848	HP:0001510	Growth delay
OMIM:242100	NIPAL4	348938	HP:0003470	Paralysis
OMIM:242100	NIPAL4	348938	HP:0009381	Short finger
OMIM:242100	NIPAL4	348938	HP:0001831	Short toe
OMIM:242100	NIPAL4	348938	HP:0003241	External genital hypoplasia
OMIM:242100	NIPAL4	348938	HP:0000007	Autosomal recessive inheritance
OMIM:242100	NIPAL4	348938	HP:0000232	Everted lower lip vermilion
OMIM:242100	NIPAL4	348938	HP:0000982	Palmoplantar keratoderma
OMIM:242100	NIPAL4	348938	HP:0000966	Hypohidrosis
OMIM:242100	NIPAL4	348938	HP:0001595	Abnormality of the hair
OMIM:242100	NIPAL4	348938	HP:0001249	Intellectual disability
OMIM:242100	NIPAL4	348938	HP:0001792	Small nail
OMIM:242100	NIPAL4	348938	HP:0001816	Thin nail
OMIM:242100	NIPAL4	348938	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242100	NIPAL4	348938	HP:0001510	Growth delay
OMIM:615937	AKT3	10000	HP:0000974	Hyperextensible skin
OMIM:615937	AKT3	10000	HP:0002126	Polymicrogyria
OMIM:615937	AKT3	10000	HP:0000965	Cutis marmorata
OMIM:615937	AKT3	10000	HP:0001162	Postaxial hand polydactyly
OMIM:615937	AKT3	10000	HP:0001250	Seizures
OMIM:615937	AKT3	10000	HP:0000256	Macrocephaly
OMIM:615937	AKT3	10000	HP:0002119	Ventriculomegaly
OMIM:615937	AKT3	10000	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615937	AKT3	10000	HP:0000238	Hydrocephalus
OMIM:615937	AKT3	10000	HP:0001249	Intellectual disability
OMIM:615937	PIK3R2	5296	HP:0000974	Hyperextensible skin
OMIM:615937	PIK3R2	5296	HP:0002126	Polymicrogyria
OMIM:615937	PIK3R2	5296	HP:0000965	Cutis marmorata
OMIM:615937	PIK3R2	5296	HP:0001162	Postaxial hand polydactyly
OMIM:615937	PIK3R2	5296	HP:0001250	Seizures
OMIM:615937	PIK3R2	5296	HP:0000256	Macrocephaly
OMIM:615937	PIK3R2	5296	HP:0002119	Ventriculomegaly
OMIM:615937	PIK3R2	5296	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615937	PIK3R2	5296	HP:0000238	Hydrocephalus
OMIM:615937	PIK3R2	5296	HP:0001249	Intellectual disability
OMIM:615937	CCND2	894	HP:0000974	Hyperextensible skin
OMIM:615937	CCND2	894	HP:0002126	Polymicrogyria
OMIM:615937	CCND2	894	HP:0000965	Cutis marmorata
OMIM:615937	CCND2	894	HP:0001162	Postaxial hand polydactyly
OMIM:615937	CCND2	894	HP:0001250	Seizures
OMIM:615937	CCND2	894	HP:0000256	Macrocephaly
OMIM:615937	CCND2	894	HP:0002119	Ventriculomegaly
OMIM:615937	CCND2	894	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615937	CCND2	894	HP:0000238	Hydrocephalus
OMIM:615937	CCND2	894	HP:0001249	Intellectual disability
OMIM:613172	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:613172	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:613172	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:613172	TPM1	7168	HP:0001645	Sudden cardiac death
OMIM:613172	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:613172	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:613172	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:613172	CRYAB	1410	HP:0001645	Sudden cardiac death
OMIM:613172	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613172	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:613172	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:613172	ACTC1	70	HP:0001645	Sudden cardiac death
OMIM:613172	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:613172	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:613172	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:613172	RAF1	5894	HP:0001645	Sudden cardiac death
OMIM:613172	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613172	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:613172	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:613172	GATAD1	57798	HP:0001645	Sudden cardiac death
OMIM:613172	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:613172	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:613172	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:613172	LAMA4	3910	HP:0001645	Sudden cardiac death
OMIM:613172	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613172	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:613172	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:613172	TMPO	7112	HP:0001645	Sudden cardiac death
OMIM:613172	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:613172	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:613172	DES	1674	HP:0001635	Congestive heart failure
OMIM:613172	DES	1674	HP:0001645	Sudden cardiac death
OMIM:613172	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:613172	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:613172	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:613172	ABCC9	10060	HP:0001645	Sudden cardiac death
OMIM:613172	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:613172	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:613172	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:613172	MYH6	4624	HP:0001645	Sudden cardiac death
OMIM:613172	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613172	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:613172	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:613172	MYH7	4625	HP:0001645	Sudden cardiac death
OMIM:613172	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:613172	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:613172	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:613172	LDB3	11155	HP:0001645	Sudden cardiac death
OMIM:613172	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:613172	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:613172	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:613172	ACTN2	88	HP:0001645	Sudden cardiac death
OMIM:613172	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:613172	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:613172	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:613172	TXNRD2	10587	HP:0001645	Sudden cardiac death
OMIM:613172	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:613172	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:613172	DMD	1756	HP:0001635	Congestive heart failure
OMIM:613172	DMD	1756	HP:0001645	Sudden cardiac death
OMIM:613172	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:613172	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:613172	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:613172	TNNC1	7134	HP:0001645	Sudden cardiac death
OMIM:613172	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613172	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:613172	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:613172	PSEN1	5663	HP:0001645	Sudden cardiac death
OMIM:613172	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:613172	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:613172	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:613172	PSEN2	5664	HP:0001645	Sudden cardiac death
OMIM:613172	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:613172	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:613172	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:613172	TNNI3	7137	HP:0001645	Sudden cardiac death
OMIM:613172	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:613172	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:613172	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:613172	FHL2	2274	HP:0001645	Sudden cardiac death
OMIM:613172	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:613172	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:613172	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:613172	TNNT2	7139	HP:0001645	Sudden cardiac death
OMIM:613172	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:613172	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:613172	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:613172	DSG2	1829	HP:0001645	Sudden cardiac death
OMIM:613172	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:613172	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:613172	PLN	5350	HP:0001635	Congestive heart failure
OMIM:613172	PLN	5350	HP:0001645	Sudden cardiac death
OMIM:613172	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:613172	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:613172	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:613172	PRDM16	63976	HP:0001645	Sudden cardiac death
OMIM:613172	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613172	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:613172	TTN	7273	HP:0001635	Congestive heart failure
OMIM:613172	TTN	7273	HP:0001645	Sudden cardiac death
OMIM:613172	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:613172	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:613172	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:613172	NEXN	91624	HP:0001645	Sudden cardiac death
OMIM:613172	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:613172	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:613172	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:613172	FKTN	2218	HP:0001645	Sudden cardiac death
OMIM:613172	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:613172	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:613172	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:613172	SGCD	6444	HP:0001645	Sudden cardiac death
OMIM:613172	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:613172	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:613172	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:613172	TCAP	8557	HP:0001645	Sudden cardiac death
OMIM:613172	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:613172	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:613172	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:613172	RBM20	282996	HP:0001645	Sudden cardiac death
OMIM:613172	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:613172	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:613172	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:613172	CSRP3	8048	HP:0001645	Sudden cardiac death
OMIM:613172	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:613172	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:613172	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:613172	SDHA	6389	HP:0001645	Sudden cardiac death
OMIM:613172	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:613172	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:613172	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:613172	TAZ	6901	HP:0001645	Sudden cardiac death
OMIM:613172	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:613172	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:613172	VCL	7414	HP:0001635	Congestive heart failure
OMIM:613172	VCL	7414	HP:0001645	Sudden cardiac death
OMIM:613172	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:613172	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:613172	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:613172	MYPN	84665	HP:0001645	Sudden cardiac death
OMIM:613172	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:613172	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613172	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:613172	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:613172	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:613172	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:613172	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:613172	BAG3	9531	HP:0001645	Sudden cardiac death
OMIM:613172	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:613172	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:613172	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:613172	DOLK	22845	HP:0001645	Sudden cardiac death
OMIM:613172	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:613172	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:613172	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:613172	MYBPC3	4607	HP:0001645	Sudden cardiac death
OMIM:610968	PPIB	5479	HP:0000951	Abnormality of the skin
OMIM:610968	PPIB	5479	HP:0002812	Coxa vara
OMIM:610968	PPIB	5479	HP:0000006	Autosomal dominant inheritance
OMIM:610968	PPIB	5479	HP:0000325	Triangular face
OMIM:610968	PPIB	5479	HP:0000938	Osteopenia
OMIM:610968	PPIB	5479	HP:0000248	Brachycephaly
OMIM:610968	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:610968	PPIB	5479	HP:0001388	Joint laxity
OMIM:610968	PPIB	5479	HP:0002751	Kyphoscoliosis
OMIM:610968	PPIB	5479	HP:0004322	Short stature
OMIM:610968	PPIB	5479	HP:0000592	Blue sclerae
OMIM:610968	PPIB	5479	HP:0002659	Increased susceptibility to fractures
OMIM:610968	SERPINH1	871	HP:0000951	Abnormality of the skin
OMIM:610968	SERPINH1	871	HP:0002812	Coxa vara
OMIM:610968	SERPINH1	871	HP:0000006	Autosomal dominant inheritance
OMIM:610968	SERPINH1	871	HP:0000325	Triangular face
OMIM:610968	SERPINH1	871	HP:0000938	Osteopenia
OMIM:610968	SERPINH1	871	HP:0000248	Brachycephaly
OMIM:610968	SERPINH1	871	HP:0000007	Autosomal recessive inheritance
OMIM:610968	SERPINH1	871	HP:0001388	Joint laxity
OMIM:610968	SERPINH1	871	HP:0002751	Kyphoscoliosis
OMIM:610968	SERPINH1	871	HP:0004322	Short stature
OMIM:610968	SERPINH1	871	HP:0000592	Blue sclerae
OMIM:610968	SERPINH1	871	HP:0002659	Increased susceptibility to fractures
OMIM:610968	FKBP10	60681	HP:0000951	Abnormality of the skin
OMIM:610968	FKBP10	60681	HP:0002812	Coxa vara
OMIM:610968	FKBP10	60681	HP:0000006	Autosomal dominant inheritance
OMIM:610968	FKBP10	60681	HP:0000325	Triangular face
OMIM:610968	FKBP10	60681	HP:0000938	Osteopenia
OMIM:610968	FKBP10	60681	HP:0000248	Brachycephaly
OMIM:610968	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:610968	FKBP10	60681	HP:0001388	Joint laxity
OMIM:610968	FKBP10	60681	HP:0002751	Kyphoscoliosis
OMIM:610968	FKBP10	60681	HP:0004322	Short stature
OMIM:610968	FKBP10	60681	HP:0000592	Blue sclerae
OMIM:610968	FKBP10	60681	HP:0002659	Increased susceptibility to fractures
OMIM:610968	BMP1	649	HP:0000951	Abnormality of the skin
OMIM:610968	BMP1	649	HP:0002812	Coxa vara
OMIM:610968	BMP1	649	HP:0000006	Autosomal dominant inheritance
OMIM:610968	BMP1	649	HP:0000325	Triangular face
OMIM:610968	BMP1	649	HP:0000938	Osteopenia
OMIM:610968	BMP1	649	HP:0000248	Brachycephaly
OMIM:610968	BMP1	649	HP:0000007	Autosomal recessive inheritance
OMIM:610968	BMP1	649	HP:0001388	Joint laxity
OMIM:610968	BMP1	649	HP:0002751	Kyphoscoliosis
OMIM:610968	BMP1	649	HP:0004322	Short stature
OMIM:610968	BMP1	649	HP:0000592	Blue sclerae
OMIM:610968	BMP1	649	HP:0002659	Increased susceptibility to fractures
OMIM:610968	TMEM38B	55151	HP:0000951	Abnormality of the skin
OMIM:610968	TMEM38B	55151	HP:0002812	Coxa vara
OMIM:610968	TMEM38B	55151	HP:0000006	Autosomal dominant inheritance
OMIM:610968	TMEM38B	55151	HP:0000325	Triangular face
OMIM:610968	TMEM38B	55151	HP:0000938	Osteopenia
OMIM:610968	TMEM38B	55151	HP:0000248	Brachycephaly
OMIM:610968	TMEM38B	55151	HP:0000007	Autosomal recessive inheritance
OMIM:610968	TMEM38B	55151	HP:0001388	Joint laxity
OMIM:610968	TMEM38B	55151	HP:0002751	Kyphoscoliosis
OMIM:610968	TMEM38B	55151	HP:0004322	Short stature
OMIM:610968	TMEM38B	55151	HP:0000592	Blue sclerae
OMIM:610968	TMEM38B	55151	HP:0002659	Increased susceptibility to fractures
OMIM:610968	WNT1	7471	HP:0000951	Abnormality of the skin
OMIM:610968	WNT1	7471	HP:0002812	Coxa vara
OMIM:610968	WNT1	7471	HP:0000006	Autosomal dominant inheritance
OMIM:610968	WNT1	7471	HP:0000325	Triangular face
OMIM:610968	WNT1	7471	HP:0000938	Osteopenia
OMIM:610968	WNT1	7471	HP:0000248	Brachycephaly
OMIM:610968	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:610968	WNT1	7471	HP:0001388	Joint laxity
OMIM:610968	WNT1	7471	HP:0002751	Kyphoscoliosis
OMIM:610968	WNT1	7471	HP:0004322	Short stature
OMIM:610968	WNT1	7471	HP:0000592	Blue sclerae
OMIM:610968	WNT1	7471	HP:0002659	Increased susceptibility to fractures
OMIM:610968	P3H1	64175	HP:0000951	Abnormality of the skin
OMIM:610968	P3H1	64175	HP:0002812	Coxa vara
OMIM:610968	P3H1	64175	HP:0000006	Autosomal dominant inheritance
OMIM:610968	P3H1	64175	HP:0000325	Triangular face
OMIM:610968	P3H1	64175	HP:0000938	Osteopenia
OMIM:610968	P3H1	64175	HP:0000248	Brachycephaly
OMIM:610968	P3H1	64175	HP:0000007	Autosomal recessive inheritance
OMIM:610968	P3H1	64175	HP:0001388	Joint laxity
OMIM:610968	P3H1	64175	HP:0002751	Kyphoscoliosis
OMIM:610968	P3H1	64175	HP:0004322	Short stature
OMIM:610968	P3H1	64175	HP:0000592	Blue sclerae
OMIM:610968	P3H1	64175	HP:0002659	Increased susceptibility to fractures
OMIM:610968	CREB3L1	90993	HP:0000951	Abnormality of the skin
OMIM:610968	CREB3L1	90993	HP:0002812	Coxa vara
OMIM:610968	CREB3L1	90993	HP:0000006	Autosomal dominant inheritance
OMIM:610968	CREB3L1	90993	HP:0000325	Triangular face
OMIM:610968	CREB3L1	90993	HP:0000938	Osteopenia
OMIM:610968	CREB3L1	90993	HP:0000248	Brachycephaly
OMIM:610968	CREB3L1	90993	HP:0000007	Autosomal recessive inheritance
OMIM:610968	CREB3L1	90993	HP:0001388	Joint laxity
OMIM:610968	CREB3L1	90993	HP:0002751	Kyphoscoliosis
OMIM:610968	CREB3L1	90993	HP:0004322	Short stature
OMIM:610968	CREB3L1	90993	HP:0000592	Blue sclerae
OMIM:610968	CREB3L1	90993	HP:0002659	Increased susceptibility to fractures
OMIM:610968	SPARC	6678	HP:0000951	Abnormality of the skin
OMIM:610968	SPARC	6678	HP:0002812	Coxa vara
OMIM:610968	SPARC	6678	HP:0000006	Autosomal dominant inheritance
OMIM:610968	SPARC	6678	HP:0000325	Triangular face
OMIM:610968	SPARC	6678	HP:0000938	Osteopenia
OMIM:610968	SPARC	6678	HP:0000248	Brachycephaly
OMIM:610968	SPARC	6678	HP:0000007	Autosomal recessive inheritance
OMIM:610968	SPARC	6678	HP:0001388	Joint laxity
OMIM:610968	SPARC	6678	HP:0002751	Kyphoscoliosis
OMIM:610968	SPARC	6678	HP:0004322	Short stature
OMIM:610968	SPARC	6678	HP:0000592	Blue sclerae
OMIM:610968	SPARC	6678	HP:0002659	Increased susceptibility to fractures
OMIM:610968	SERPINF1	5176	HP:0000951	Abnormality of the skin
OMIM:610968	SERPINF1	5176	HP:0002812	Coxa vara
OMIM:610968	SERPINF1	5176	HP:0000006	Autosomal dominant inheritance
OMIM:610968	SERPINF1	5176	HP:0000325	Triangular face
OMIM:610968	SERPINF1	5176	HP:0000938	Osteopenia
OMIM:610968	SERPINF1	5176	HP:0000248	Brachycephaly
OMIM:610968	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:610968	SERPINF1	5176	HP:0001388	Joint laxity
OMIM:610968	SERPINF1	5176	HP:0002751	Kyphoscoliosis
OMIM:610968	SERPINF1	5176	HP:0004322	Short stature
OMIM:610968	SERPINF1	5176	HP:0000592	Blue sclerae
OMIM:610968	SERPINF1	5176	HP:0002659	Increased susceptibility to fractures
OMIM:610968	CRTAP	10491	HP:0000951	Abnormality of the skin
OMIM:610968	CRTAP	10491	HP:0002812	Coxa vara
OMIM:610968	CRTAP	10491	HP:0000006	Autosomal dominant inheritance
OMIM:610968	CRTAP	10491	HP:0000325	Triangular face
OMIM:610968	CRTAP	10491	HP:0000938	Osteopenia
OMIM:610968	CRTAP	10491	HP:0000248	Brachycephaly
OMIM:610968	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:610968	CRTAP	10491	HP:0001388	Joint laxity
OMIM:610968	CRTAP	10491	HP:0002751	Kyphoscoliosis
OMIM:610968	CRTAP	10491	HP:0004322	Short stature
OMIM:610968	CRTAP	10491	HP:0000592	Blue sclerae
OMIM:610968	CRTAP	10491	HP:0002659	Increased susceptibility to fractures
OMIM:610968	COL1A1	1277	HP:0000951	Abnormality of the skin
OMIM:610968	COL1A1	1277	HP:0002812	Coxa vara
OMIM:610968	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:610968	COL1A1	1277	HP:0000325	Triangular face
OMIM:610968	COL1A1	1277	HP:0000938	Osteopenia
OMIM:610968	COL1A1	1277	HP:0000248	Brachycephaly
OMIM:610968	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:610968	COL1A1	1277	HP:0001388	Joint laxity
OMIM:610968	COL1A1	1277	HP:0002751	Kyphoscoliosis
OMIM:610968	COL1A1	1277	HP:0004322	Short stature
OMIM:610968	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:610968	COL1A1	1277	HP:0002659	Increased susceptibility to fractures
OMIM:610968	SP7	121340	HP:0000951	Abnormality of the skin
OMIM:610968	SP7	121340	HP:0002812	Coxa vara
OMIM:610968	SP7	121340	HP:0000006	Autosomal dominant inheritance
OMIM:610968	SP7	121340	HP:0000325	Triangular face
OMIM:610968	SP7	121340	HP:0000938	Osteopenia
OMIM:610968	SP7	121340	HP:0000248	Brachycephaly
OMIM:610968	SP7	121340	HP:0000007	Autosomal recessive inheritance
OMIM:610968	SP7	121340	HP:0001388	Joint laxity
OMIM:610968	SP7	121340	HP:0002751	Kyphoscoliosis
OMIM:610968	SP7	121340	HP:0004322	Short stature
OMIM:610968	SP7	121340	HP:0000592	Blue sclerae
OMIM:610968	SP7	121340	HP:0002659	Increased susceptibility to fractures
OMIM:610968	COL1A2	1278	HP:0000951	Abnormality of the skin
OMIM:610968	COL1A2	1278	HP:0002812	Coxa vara
OMIM:610968	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
OMIM:610968	COL1A2	1278	HP:0000325	Triangular face
OMIM:610968	COL1A2	1278	HP:0000938	Osteopenia
OMIM:610968	COL1A2	1278	HP:0000248	Brachycephaly
OMIM:610968	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:610968	COL1A2	1278	HP:0001388	Joint laxity
OMIM:610968	COL1A2	1278	HP:0002751	Kyphoscoliosis
OMIM:610968	COL1A2	1278	HP:0004322	Short stature
OMIM:610968	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:610968	COL1A2	1278	HP:0002659	Increased susceptibility to fractures
OMIM:193300	VHL	7428	HP:0001901	Polycythemia
OMIM:193300	VHL	7428	HP:0000541	Retinal detachment
OMIM:193300	VHL	7428	HP:0100763	Abnormality of the lymphatic system
OMIM:193300	VHL	7428	HP:0002167	Neurological speech impairment
OMIM:193300	VHL	7428	HP:0000238	Hydrocephalus
OMIM:193300	VHL	7428	HP:0002894	Neoplasm of the pancreas
OMIM:193300	VHL	7428	HP:0003812	Phenotypic variability
OMIM:193300	VHL	7428	HP:0001288	Gait disturbance
OMIM:193300	VHL	7428	HP:0002311	Incoordination
OMIM:193300	VHL	7428	HP:0100735	Hypertensive crisis
OMIM:193300	VHL	7428	HP:0000822	Hypertension
OMIM:193300	VHL	7428	HP:0002321	Vertigo
OMIM:193300	VHL	7428	HP:0000006	Autosomal dominant inheritance
OMIM:193300	VHL	7428	HP:0000975	Hyperhidrosis
OMIM:193300	VHL	7428	HP:0000003	Multicystic kidney dysplasia
OMIM:193300	VHL	7428	HP:0000505	Visual impairment
OMIM:193300	VHL	7428	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:193300	VHL	7428	HP:0004374	Hemiplegia/hemiparesis
OMIM:193300	VHL	7428	HP:0100585	Telangiectasia of the skin
OMIM:193300	VHL	7428	HP:0000407	Sensorineural hearing impairment
OMIM:193300	VHL	7428	HP:0002017	Nausea and vomiting
OMIM:193300	VHL	7428	HP:0009726	Renal neoplasm
OMIM:193300	VHL	7428	HP:0000113	Polycystic kidney dysplasia
OMIM:193300	VHL	7428	HP:0000360	Tinnitus
OMIM:193300	VHL	7428	HP:0100659	Abnormality of the cerebral vasculature
OMIM:193300	VHL	7428	HP:0000518	Cataract
OMIM:193300	VHL	7428	HP:0000639	Nystagmus
OMIM:193300	VHL	7428	HP:0002076	Migraine
OMIM:193300	VHL	7428	HP:0000501	Glaucoma
OMIM:193300	VHL	7428	HP:0011675	Arrhythmia
OMIM:193300	VHL	7428	HP:0100026	Arteriovenous malformation
OMIM:193300	VHL	7428	HP:0001103	Abnormality of the macula
OMIM:193300	VHL	7428	HP:0001392	Abnormality of the liver
OMIM:193300	VHL	7428	HP:0008046	Abnormality of the retinal vasculature
OMIM:612813	ACAN	176	HP:0008905	Rhizomelia
OMIM:612813	ACAN	176	HP:0009381	Short finger
OMIM:612813	ACAN	176	HP:0001609	Hoarse voice
OMIM:612813	ACAN	176	HP:0004482	Relative macrocephaly
OMIM:612813	ACAN	176	HP:0000369	Low-set ears
OMIM:612813	ACAN	176	HP:0001552	Barrel-shaped chest
OMIM:612813	ACAN	176	HP:0000303	Mandibular prognathia
OMIM:612813	ACAN	176	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:612813	ACAN	176	HP:0011304	Broad thumb
OMIM:612813	ACAN	176	HP:0000007	Autosomal recessive inheritance
OMIM:612813	ACAN	176	HP:0000358	Posteriorly rotated ears
OMIM:612813	ACAN	176	HP:0002938	Lumbar hyperlordosis
OMIM:612813	ACAN	176	HP:0000470	Short neck
OMIM:612813	ACAN	176	HP:0001388	Joint laxity
OMIM:612813	ACAN	176	HP:0000272	Malar flattening
OMIM:300960	EBP	10682	HP:0004322	Short stature
OMIM:300960	EBP	10682	HP:0001252	Muscular hypotonia
OMIM:300960	EBP	10682	HP:0000028	Cryptorchidism
OMIM:300960	EBP	10682	HP:0000218	High palate
OMIM:300960	EBP	10682	HP:0004691	2-3 toe syndactyly
OMIM:300960	EBP	10682	HP:0001845	Overlapping toe
OMIM:615774	ZP1	22917	HP:0000789	Infertility
OMIM:615774	ZP1	22917	HP:0000007	Autosomal recessive inheritance
OMIM:611876	SCN10A	6336	HP:0001279	Syncope
OMIM:611876	SCN10A	6336	HP:0000006	Autosomal dominant inheritance
OMIM:611876	SCN10A	6336	HP:0012232	Shortened QT interval
OMIM:611876	SCN10A	6336	HP:0005110	Atrial fibrillation
OMIM:611876	GPD1L	23171	HP:0001279	Syncope
OMIM:611876	GPD1L	23171	HP:0000006	Autosomal dominant inheritance
OMIM:611876	GPD1L	23171	HP:0012232	Shortened QT interval
OMIM:611876	GPD1L	23171	HP:0005110	Atrial fibrillation
OMIM:611876	HCN4	10021	HP:0001279	Syncope
OMIM:611876	HCN4	10021	HP:0000006	Autosomal dominant inheritance
OMIM:611876	HCN4	10021	HP:0012232	Shortened QT interval
OMIM:611876	HCN4	10021	HP:0005110	Atrial fibrillation
OMIM:611876	CACNA1C	775	HP:0001279	Syncope
OMIM:611876	CACNA1C	775	HP:0000006	Autosomal dominant inheritance
OMIM:611876	CACNA1C	775	HP:0012232	Shortened QT interval
OMIM:611876	CACNA1C	775	HP:0005110	Atrial fibrillation
OMIM:611876	KCND3	3752	HP:0001279	Syncope
OMIM:611876	KCND3	3752	HP:0000006	Autosomal dominant inheritance
OMIM:611876	KCND3	3752	HP:0012232	Shortened QT interval
OMIM:611876	KCND3	3752	HP:0005110	Atrial fibrillation
OMIM:611876	TRPM4	54795	HP:0001279	Syncope
OMIM:611876	TRPM4	54795	HP:0000006	Autosomal dominant inheritance
OMIM:611876	TRPM4	54795	HP:0012232	Shortened QT interval
OMIM:611876	TRPM4	54795	HP:0005110	Atrial fibrillation
OMIM:611876	CACNA2D1	781	HP:0001279	Syncope
OMIM:611876	CACNA2D1	781	HP:0000006	Autosomal dominant inheritance
OMIM:611876	CACNA2D1	781	HP:0012232	Shortened QT interval
OMIM:611876	CACNA2D1	781	HP:0005110	Atrial fibrillation
OMIM:611876	CACNB2	783	HP:0001279	Syncope
OMIM:611876	CACNB2	783	HP:0000006	Autosomal dominant inheritance
OMIM:611876	CACNB2	783	HP:0012232	Shortened QT interval
OMIM:611876	CACNB2	783	HP:0005110	Atrial fibrillation
OMIM:611876	SCN1B	6324	HP:0001279	Syncope
OMIM:611876	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:611876	SCN1B	6324	HP:0012232	Shortened QT interval
OMIM:611876	SCN1B	6324	HP:0005110	Atrial fibrillation
OMIM:611876	KCNJ8	3764	HP:0001279	Syncope
OMIM:611876	KCNJ8	3764	HP:0000006	Autosomal dominant inheritance
OMIM:611876	KCNJ8	3764	HP:0012232	Shortened QT interval
OMIM:611876	KCNJ8	3764	HP:0005110	Atrial fibrillation
OMIM:611876	KCNE3	10008	HP:0001279	Syncope
OMIM:611876	KCNE3	10008	HP:0000006	Autosomal dominant inheritance
OMIM:611876	KCNE3	10008	HP:0012232	Shortened QT interval
OMIM:611876	KCNE3	10008	HP:0005110	Atrial fibrillation
OMIM:611876	SCN3B	55800	HP:0001279	Syncope
OMIM:611876	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:611876	SCN3B	55800	HP:0012232	Shortened QT interval
OMIM:611876	SCN3B	55800	HP:0005110	Atrial fibrillation
OMIM:611876	SCN5A	6331	HP:0001279	Syncope
OMIM:611876	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:611876	SCN5A	6331	HP:0012232	Shortened QT interval
OMIM:611876	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:611876	SLMAP	7871	HP:0001279	Syncope
OMIM:611876	SLMAP	7871	HP:0000006	Autosomal dominant inheritance
OMIM:611876	SLMAP	7871	HP:0012232	Shortened QT interval
OMIM:611876	SLMAP	7871	HP:0005110	Atrial fibrillation
OMIM:614816	TGFB2	7042	HP:0000218	High palate
OMIM:614816	TGFB2	7042	HP:0000006	Autosomal dominant inheritance
OMIM:614816	TGFB2	7042	HP:0002097	Emphysema
OMIM:614816	TGFB2	7042	HP:0000278	Retrognathia
OMIM:614816	TGFB2	7042	HP:0002650	Scoliosis
OMIM:614816	TGFB2	7042	HP:0000098	Tall stature
OMIM:614816	TGFB2	7042	HP:0000316	Hypertelorism
OMIM:614816	TGFB2	7042	HP:0000978	Bruising susceptibility
OMIM:614816	TGFB2	7042	HP:0000494	Downslanted palpebral fissures
OMIM:614816	TGFB2	7042	HP:0001762	Talipes equinovarus
OMIM:614816	TGFB2	7042	HP:0001166	Arachnodactyly
OMIM:614816	TGFB2	7042	HP:0000766	Abnormality of the sternum
OMIM:614816	TGFB2	7042	HP:0001763	Pes planus
OMIM:614816	TGFB2	7042	HP:0005116	Arterial tortuosity
OMIM:614816	TGFB2	7042	HP:0001647	Bicuspid aortic valve
OMIM:614816	TGFB2	7042	HP:0001634	Mitral valve prolapse
OMIM:614816	TGFB2	7042	HP:0000023	Inguinal hernia
OMIM:614816	MYH11	4629	HP:0000218	High palate
OMIM:614816	MYH11	4629	HP:0000006	Autosomal dominant inheritance
OMIM:614816	MYH11	4629	HP:0002097	Emphysema
OMIM:614816	MYH11	4629	HP:0000278	Retrognathia
OMIM:614816	MYH11	4629	HP:0002650	Scoliosis
OMIM:614816	MYH11	4629	HP:0000098	Tall stature
OMIM:614816	MYH11	4629	HP:0000316	Hypertelorism
OMIM:614816	MYH11	4629	HP:0000978	Bruising susceptibility
OMIM:614816	MYH11	4629	HP:0000494	Downslanted palpebral fissures
OMIM:614816	MYH11	4629	HP:0001762	Talipes equinovarus
OMIM:614816	MYH11	4629	HP:0001166	Arachnodactyly
OMIM:614816	MYH11	4629	HP:0000766	Abnormality of the sternum
OMIM:614816	MYH11	4629	HP:0001763	Pes planus
OMIM:614816	MYH11	4629	HP:0005116	Arterial tortuosity
OMIM:614816	MYH11	4629	HP:0001647	Bicuspid aortic valve
OMIM:614816	MYH11	4629	HP:0001634	Mitral valve prolapse
OMIM:614816	MYH11	4629	HP:0000023	Inguinal hernia
OMIM:614816	TGFBR1	7046	HP:0000218	High palate
OMIM:614816	TGFBR1	7046	HP:0000006	Autosomal dominant inheritance
OMIM:614816	TGFBR1	7046	HP:0002097	Emphysema
OMIM:614816	TGFBR1	7046	HP:0000278	Retrognathia
OMIM:614816	TGFBR1	7046	HP:0002650	Scoliosis
OMIM:614816	TGFBR1	7046	HP:0000098	Tall stature
OMIM:614816	TGFBR1	7046	HP:0000316	Hypertelorism
OMIM:614816	TGFBR1	7046	HP:0000978	Bruising susceptibility
OMIM:614816	TGFBR1	7046	HP:0000494	Downslanted palpebral fissures
OMIM:614816	TGFBR1	7046	HP:0001762	Talipes equinovarus
OMIM:614816	TGFBR1	7046	HP:0001166	Arachnodactyly
OMIM:614816	TGFBR1	7046	HP:0000766	Abnormality of the sternum
OMIM:614816	TGFBR1	7046	HP:0001763	Pes planus
OMIM:614816	TGFBR1	7046	HP:0005116	Arterial tortuosity
OMIM:614816	TGFBR1	7046	HP:0001647	Bicuspid aortic valve
OMIM:614816	TGFBR1	7046	HP:0001634	Mitral valve prolapse
OMIM:614816	TGFBR1	7046	HP:0000023	Inguinal hernia
OMIM:614816	TGFBR2	7048	HP:0000218	High palate
OMIM:614816	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:614816	TGFBR2	7048	HP:0002097	Emphysema
OMIM:614816	TGFBR2	7048	HP:0000278	Retrognathia
OMIM:614816	TGFBR2	7048	HP:0002650	Scoliosis
OMIM:614816	TGFBR2	7048	HP:0000098	Tall stature
OMIM:614816	TGFBR2	7048	HP:0000316	Hypertelorism
OMIM:614816	TGFBR2	7048	HP:0000978	Bruising susceptibility
OMIM:614816	TGFBR2	7048	HP:0000494	Downslanted palpebral fissures
OMIM:614816	TGFBR2	7048	HP:0001762	Talipes equinovarus
OMIM:614816	TGFBR2	7048	HP:0001166	Arachnodactyly
OMIM:614816	TGFBR2	7048	HP:0000766	Abnormality of the sternum
OMIM:614816	TGFBR2	7048	HP:0001763	Pes planus
OMIM:614816	TGFBR2	7048	HP:0005116	Arterial tortuosity
OMIM:614816	TGFBR2	7048	HP:0001647	Bicuspid aortic valve
OMIM:614816	TGFBR2	7048	HP:0001634	Mitral valve prolapse
OMIM:614816	TGFBR2	7048	HP:0000023	Inguinal hernia
OMIM:614816	FBN1	2200	HP:0000218	High palate
OMIM:614816	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:614816	FBN1	2200	HP:0002097	Emphysema
OMIM:614816	FBN1	2200	HP:0000278	Retrognathia
OMIM:614816	FBN1	2200	HP:0002650	Scoliosis
OMIM:614816	FBN1	2200	HP:0000098	Tall stature
OMIM:614816	FBN1	2200	HP:0000316	Hypertelorism
OMIM:614816	FBN1	2200	HP:0000978	Bruising susceptibility
OMIM:614816	FBN1	2200	HP:0000494	Downslanted palpebral fissures
OMIM:614816	FBN1	2200	HP:0001762	Talipes equinovarus
OMIM:614816	FBN1	2200	HP:0001166	Arachnodactyly
OMIM:614816	FBN1	2200	HP:0000766	Abnormality of the sternum
OMIM:614816	FBN1	2200	HP:0001763	Pes planus
OMIM:614816	FBN1	2200	HP:0005116	Arterial tortuosity
OMIM:614816	FBN1	2200	HP:0001647	Bicuspid aortic valve
OMIM:614816	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:614816	FBN1	2200	HP:0000023	Inguinal hernia
OMIM:614816	SMAD3	4088	HP:0000218	High palate
OMIM:614816	SMAD3	4088	HP:0000006	Autosomal dominant inheritance
OMIM:614816	SMAD3	4088	HP:0002097	Emphysema
OMIM:614816	SMAD3	4088	HP:0000278	Retrognathia
OMIM:614816	SMAD3	4088	HP:0002650	Scoliosis
OMIM:614816	SMAD3	4088	HP:0000098	Tall stature
OMIM:614816	SMAD3	4088	HP:0000316	Hypertelorism
OMIM:614816	SMAD3	4088	HP:0000978	Bruising susceptibility
OMIM:614816	SMAD3	4088	HP:0000494	Downslanted palpebral fissures
OMIM:614816	SMAD3	4088	HP:0001762	Talipes equinovarus
OMIM:614816	SMAD3	4088	HP:0001166	Arachnodactyly
OMIM:614816	SMAD3	4088	HP:0000766	Abnormality of the sternum
OMIM:614816	SMAD3	4088	HP:0001763	Pes planus
OMIM:614816	SMAD3	4088	HP:0005116	Arterial tortuosity
OMIM:614816	SMAD3	4088	HP:0001647	Bicuspid aortic valve
OMIM:614816	SMAD3	4088	HP:0001634	Mitral valve prolapse
OMIM:614816	SMAD3	4088	HP:0000023	Inguinal hernia
OMIM:614816	PRKG1	5592	HP:0000218	High palate
OMIM:614816	PRKG1	5592	HP:0000006	Autosomal dominant inheritance
OMIM:614816	PRKG1	5592	HP:0002097	Emphysema
OMIM:614816	PRKG1	5592	HP:0000278	Retrognathia
OMIM:614816	PRKG1	5592	HP:0002650	Scoliosis
OMIM:614816	PRKG1	5592	HP:0000098	Tall stature
OMIM:614816	PRKG1	5592	HP:0000316	Hypertelorism
OMIM:614816	PRKG1	5592	HP:0000978	Bruising susceptibility
OMIM:614816	PRKG1	5592	HP:0000494	Downslanted palpebral fissures
OMIM:614816	PRKG1	5592	HP:0001762	Talipes equinovarus
OMIM:614816	PRKG1	5592	HP:0001166	Arachnodactyly
OMIM:614816	PRKG1	5592	HP:0000766	Abnormality of the sternum
OMIM:614816	PRKG1	5592	HP:0001763	Pes planus
OMIM:614816	PRKG1	5592	HP:0005116	Arterial tortuosity
OMIM:614816	PRKG1	5592	HP:0001647	Bicuspid aortic valve
OMIM:614816	PRKG1	5592	HP:0001634	Mitral valve prolapse
OMIM:614816	PRKG1	5592	HP:0000023	Inguinal hernia
OMIM:614816	ACTA2	59	HP:0000218	High palate
OMIM:614816	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:614816	ACTA2	59	HP:0002097	Emphysema
OMIM:614816	ACTA2	59	HP:0000278	Retrognathia
OMIM:614816	ACTA2	59	HP:0002650	Scoliosis
OMIM:614816	ACTA2	59	HP:0000098	Tall stature
OMIM:614816	ACTA2	59	HP:0000316	Hypertelorism
OMIM:614816	ACTA2	59	HP:0000978	Bruising susceptibility
OMIM:614816	ACTA2	59	HP:0000494	Downslanted palpebral fissures
OMIM:614816	ACTA2	59	HP:0001762	Talipes equinovarus
OMIM:614816	ACTA2	59	HP:0001166	Arachnodactyly
OMIM:614816	ACTA2	59	HP:0000766	Abnormality of the sternum
OMIM:614816	ACTA2	59	HP:0001763	Pes planus
OMIM:614816	ACTA2	59	HP:0005116	Arterial tortuosity
OMIM:614816	ACTA2	59	HP:0001647	Bicuspid aortic valve
OMIM:614816	ACTA2	59	HP:0001634	Mitral valve prolapse
OMIM:614816	ACTA2	59	HP:0000023	Inguinal hernia
OMIM:614816	MFAP5	8076	HP:0000218	High palate
OMIM:614816	MFAP5	8076	HP:0000006	Autosomal dominant inheritance
OMIM:614816	MFAP5	8076	HP:0002097	Emphysema
OMIM:614816	MFAP5	8076	HP:0000278	Retrognathia
OMIM:614816	MFAP5	8076	HP:0002650	Scoliosis
OMIM:614816	MFAP5	8076	HP:0000098	Tall stature
OMIM:614816	MFAP5	8076	HP:0000316	Hypertelorism
OMIM:614816	MFAP5	8076	HP:0000978	Bruising susceptibility
OMIM:614816	MFAP5	8076	HP:0000494	Downslanted palpebral fissures
OMIM:614816	MFAP5	8076	HP:0001762	Talipes equinovarus
OMIM:614816	MFAP5	8076	HP:0001166	Arachnodactyly
OMIM:614816	MFAP5	8076	HP:0000766	Abnormality of the sternum
OMIM:614816	MFAP5	8076	HP:0001763	Pes planus
OMIM:614816	MFAP5	8076	HP:0005116	Arterial tortuosity
OMIM:614816	MFAP5	8076	HP:0001647	Bicuspid aortic valve
OMIM:614816	MFAP5	8076	HP:0001634	Mitral valve prolapse
OMIM:614816	MFAP5	8076	HP:0000023	Inguinal hernia
OMIM:614816	MYLK	4638	HP:0000218	High palate
OMIM:614816	MYLK	4638	HP:0000006	Autosomal dominant inheritance
OMIM:614816	MYLK	4638	HP:0002097	Emphysema
OMIM:614816	MYLK	4638	HP:0000278	Retrognathia
OMIM:614816	MYLK	4638	HP:0002650	Scoliosis
OMIM:614816	MYLK	4638	HP:0000098	Tall stature
OMIM:614816	MYLK	4638	HP:0000316	Hypertelorism
OMIM:614816	MYLK	4638	HP:0000978	Bruising susceptibility
OMIM:614816	MYLK	4638	HP:0000494	Downslanted palpebral fissures
OMIM:614816	MYLK	4638	HP:0001762	Talipes equinovarus
OMIM:614816	MYLK	4638	HP:0001166	Arachnodactyly
OMIM:614816	MYLK	4638	HP:0000766	Abnormality of the sternum
OMIM:614816	MYLK	4638	HP:0001763	Pes planus
OMIM:614816	MYLK	4638	HP:0005116	Arterial tortuosity
OMIM:614816	MYLK	4638	HP:0001647	Bicuspid aortic valve
OMIM:614816	MYLK	4638	HP:0001634	Mitral valve prolapse
OMIM:614816	MYLK	4638	HP:0000023	Inguinal hernia
OMIM:608728	MATN3	4148	HP:0002515	Waddling gait
OMIM:608728	MATN3	4148	HP:0005257	Thoracic hypoplasia
OMIM:608728	MATN3	4148	HP:0002983	Micromelia
OMIM:608728	MATN3	4148	HP:0003016	Metaphyseal widening
OMIM:608728	MATN3	4148	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:608728	MATN3	4148	HP:0002938	Lumbar hyperlordosis
OMIM:608728	MATN3	4148	HP:0000926	Platyspondyly
OMIM:608728	MATN3	4148	HP:0003173	Hypoplastic pubic bone
OMIM:608728	MATN3	4148	HP:0000007	Autosomal recessive inheritance
OMIM:608728	MATN3	4148	HP:0003300	Ovoid vertebral bodies
OMIM:608728	MATN3	4148	HP:0002979	Bowing of the legs
OMIM:608728	MATN3	4148	HP:0008873	Disproportionate short-limb short stature
OMIM:608728	MATN3	4148	HP:0003026	Short long bone
ORPHANET:248	EDAR	10913	HP:0000958	Dry skin
ORPHANET:248	EDAR	10913	HP:0008388	Abnormality of the toenails
ORPHANET:248	EDAR	10913	HP:0000966	Hypohidrosis
ORPHANET:248	EDAR	10913	HP:0001596	Alopecia
ORPHANET:248	EDAR	10913	HP:0002213	Fine hair
ORPHANET:248	EDAR	10913	HP:0001231	Abnormality of the fingernails
ORPHANET:248	EDAR	10913	HP:0006482	Abnormality of dental morphology
ORPHANET:248	EDAR	10913	HP:0009804	Reduced number of teeth
ORPHANET:248	EDARADD	128178	HP:0000958	Dry skin
ORPHANET:248	EDARADD	128178	HP:0008388	Abnormality of the toenails
ORPHANET:248	EDARADD	128178	HP:0000966	Hypohidrosis
ORPHANET:248	EDARADD	128178	HP:0001596	Alopecia
ORPHANET:248	EDARADD	128178	HP:0002213	Fine hair
ORPHANET:248	EDARADD	128178	HP:0001231	Abnormality of the fingernails
ORPHANET:248	EDARADD	128178	HP:0006482	Abnormality of dental morphology
ORPHANET:248	EDARADD	128178	HP:0009804	Reduced number of teeth
ORPHANET:248	WNT10A	80326	HP:0000958	Dry skin
ORPHANET:248	WNT10A	80326	HP:0008388	Abnormality of the toenails
ORPHANET:248	WNT10A	80326	HP:0000966	Hypohidrosis
ORPHANET:248	WNT10A	80326	HP:0001596	Alopecia
ORPHANET:248	WNT10A	80326	HP:0002213	Fine hair
ORPHANET:248	WNT10A	80326	HP:0001231	Abnormality of the fingernails
ORPHANET:248	WNT10A	80326	HP:0006482	Abnormality of dental morphology
ORPHANET:248	WNT10A	80326	HP:0009804	Reduced number of teeth
OMIM:616155	IGHMBP2	3508	HP:0003376	Steppage gait
OMIM:616155	IGHMBP2	3508	HP:0001284	Areflexia
OMIM:616155	IGHMBP2	3508	HP:0001762	Talipes equinovarus
OMIM:616155	IGHMBP2	3508	HP:0002650	Scoliosis
OMIM:616155	IGHMBP2	3508	HP:0002936	Distal sensory impairment
OMIM:616155	IGHMBP2	3508	HP:0009027	Foot dorsiflexor weakness
OMIM:616155	IGHMBP2	3508	HP:0001265	Hyporeflexia
OMIM:242300	ALOXE3	59344	HP:0001019	Erythroderma
OMIM:242300	ALOXE3	59344	HP:0002164	Nail dysplasia
OMIM:242300	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:242300	ALOXE3	59344	HP:0008404	Nail dystrophy
OMIM:242300	ALOXE3	59344	HP:0001596	Alopecia
OMIM:242300	ALOXE3	59344	HP:0001371	Flexion contracture
OMIM:242300	ALOXE3	59344	HP:0000232	Everted lower lip vermilion
OMIM:242300	ALOXE3	59344	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242300	ALOX12B	242	HP:0001019	Erythroderma
OMIM:242300	ALOX12B	242	HP:0002164	Nail dysplasia
OMIM:242300	ALOX12B	242	HP:0000007	Autosomal recessive inheritance
OMIM:242300	ALOX12B	242	HP:0008404	Nail dystrophy
OMIM:242300	ALOX12B	242	HP:0001596	Alopecia
OMIM:242300	ALOX12B	242	HP:0001371	Flexion contracture
OMIM:242300	ALOX12B	242	HP:0000232	Everted lower lip vermilion
OMIM:242300	ALOX12B	242	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242300	LIPN	643418	HP:0001019	Erythroderma
OMIM:242300	LIPN	643418	HP:0002164	Nail dysplasia
OMIM:242300	LIPN	643418	HP:0000007	Autosomal recessive inheritance
OMIM:242300	LIPN	643418	HP:0008404	Nail dystrophy
OMIM:242300	LIPN	643418	HP:0001596	Alopecia
OMIM:242300	LIPN	643418	HP:0001371	Flexion contracture
OMIM:242300	LIPN	643418	HP:0000232	Everted lower lip vermilion
OMIM:242300	LIPN	643418	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242300	ABCA12	26154	HP:0001019	Erythroderma
OMIM:242300	ABCA12	26154	HP:0002164	Nail dysplasia
OMIM:242300	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:242300	ABCA12	26154	HP:0008404	Nail dystrophy
OMIM:242300	ABCA12	26154	HP:0001596	Alopecia
OMIM:242300	ABCA12	26154	HP:0001371	Flexion contracture
OMIM:242300	ABCA12	26154	HP:0000232	Everted lower lip vermilion
OMIM:242300	ABCA12	26154	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242300	TGM1	7051	HP:0001019	Erythroderma
OMIM:242300	TGM1	7051	HP:0002164	Nail dysplasia
OMIM:242300	TGM1	7051	HP:0000007	Autosomal recessive inheritance
OMIM:242300	TGM1	7051	HP:0008404	Nail dystrophy
OMIM:242300	TGM1	7051	HP:0001596	Alopecia
OMIM:242300	TGM1	7051	HP:0001371	Flexion contracture
OMIM:242300	TGM1	7051	HP:0000232	Everted lower lip vermilion
OMIM:242300	TGM1	7051	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242300	CYP4F22	126410	HP:0001019	Erythroderma
OMIM:242300	CYP4F22	126410	HP:0002164	Nail dysplasia
OMIM:242300	CYP4F22	126410	HP:0000007	Autosomal recessive inheritance
OMIM:242300	CYP4F22	126410	HP:0008404	Nail dystrophy
OMIM:242300	CYP4F22	126410	HP:0001596	Alopecia
OMIM:242300	CYP4F22	126410	HP:0001371	Flexion contracture
OMIM:242300	CYP4F22	126410	HP:0000232	Everted lower lip vermilion
OMIM:242300	CYP4F22	126410	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242300	NIPAL4	348938	HP:0001019	Erythroderma
OMIM:242300	NIPAL4	348938	HP:0002164	Nail dysplasia
OMIM:242300	NIPAL4	348938	HP:0000007	Autosomal recessive inheritance
OMIM:242300	NIPAL4	348938	HP:0008404	Nail dystrophy
OMIM:242300	NIPAL4	348938	HP:0001596	Alopecia
OMIM:242300	NIPAL4	348938	HP:0001371	Flexion contracture
OMIM:242300	NIPAL4	348938	HP:0000232	Everted lower lip vermilion
OMIM:242300	NIPAL4	348938	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:613376	HSPB8	26353	HP:0002355	Difficulty walking
OMIM:613376	HSPB8	26353	HP:0003202	Skeletal muscle atrophy
OMIM:613376	HSPB8	26353	HP:0009053	Distal lower limb muscle weakness
OMIM:613376	HSPB8	26353	HP:0000006	Autosomal dominant inheritance
OMIM:613376	HSPB8	26353	HP:0003376	Steppage gait
OMIM:613376	HSPB8	26353	HP:0003445	EMG: neuropathic changes
OMIM:613376	HSPB8	26353	HP:0003677	Slow progression
OMIM:613376	HSPB8	26353	HP:0009830	Peripheral neuropathy
OMIM:613376	HSPB1	3315	HP:0002355	Difficulty walking
OMIM:613376	HSPB1	3315	HP:0003202	Skeletal muscle atrophy
OMIM:613376	HSPB1	3315	HP:0009053	Distal lower limb muscle weakness
OMIM:613376	HSPB1	3315	HP:0000006	Autosomal dominant inheritance
OMIM:613376	HSPB1	3315	HP:0003376	Steppage gait
OMIM:613376	HSPB1	3315	HP:0003445	EMG: neuropathic changes
OMIM:613376	HSPB1	3315	HP:0003677	Slow progression
OMIM:613376	HSPB1	3315	HP:0009830	Peripheral neuropathy
OMIM:613376	FBXO38	81545	HP:0002355	Difficulty walking
OMIM:613376	FBXO38	81545	HP:0003202	Skeletal muscle atrophy
OMIM:613376	FBXO38	81545	HP:0009053	Distal lower limb muscle weakness
OMIM:613376	FBXO38	81545	HP:0000006	Autosomal dominant inheritance
OMIM:613376	FBXO38	81545	HP:0003376	Steppage gait
OMIM:613376	FBXO38	81545	HP:0003445	EMG: neuropathic changes
OMIM:613376	FBXO38	81545	HP:0003677	Slow progression
OMIM:613376	FBXO38	81545	HP:0009830	Peripheral neuropathy
OMIM:613376	HSPB3	8988	HP:0002355	Difficulty walking
OMIM:613376	HSPB3	8988	HP:0003202	Skeletal muscle atrophy
OMIM:613376	HSPB3	8988	HP:0009053	Distal lower limb muscle weakness
OMIM:613376	HSPB3	8988	HP:0000006	Autosomal dominant inheritance
OMIM:613376	HSPB3	8988	HP:0003376	Steppage gait
OMIM:613376	HSPB3	8988	HP:0003445	EMG: neuropathic changes
OMIM:613376	HSPB3	8988	HP:0003677	Slow progression
OMIM:613376	HSPB3	8988	HP:0009830	Peripheral neuropathy
OMIM:614691	CRYBA2	1412	HP:0000007	Autosomal recessive inheritance
OMIM:614691	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:614691	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:614691	AGK	55750	HP:0000519	Congenital cataract
OMIM:614691	GCNT2	2651	HP:0000007	Autosomal recessive inheritance
OMIM:614691	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:174300	DDX59	83479	HP:0000324	Facial asymmetry
OMIM:174300	DDX59	83479	HP:0002251	Aganglionic megacolon
OMIM:174300	DDX59	83479	HP:0000163	Abnormality of the oral cavity
OMIM:174300	DDX59	83479	HP:0000193	Bifid uvula
OMIM:174300	DDX59	83479	HP:0000161	Median cleft lip
OMIM:174300	DDX59	83479	HP:0002007	Frontal bossing
OMIM:174300	DDX59	83479	HP:0000286	Epicanthus
OMIM:174300	DDX59	83479	HP:0001162	Postaxial hand polydactyly
OMIM:174300	DDX59	83479	HP:0000316	Hypertelorism
OMIM:174300	DDX59	83479	HP:0000175	Cleft palate
OMIM:174300	DDX59	83479	HP:0006101	Finger syndactyly
OMIM:174300	DDX59	83479	HP:0001156	Brachydactyly syndrome
OMIM:174300	DDX59	83479	HP:0001249	Intellectual disability
OMIM:174300	DDX59	83479	HP:0000007	Autosomal recessive inheritance
OMIM:174300	DDX59	83479	HP:0001177	Preaxial hand polydactyly
OMIM:174300	DDX59	83479	HP:0001274	Agenesis of corpus callosum
OMIM:174300	DDX59	83479	HP:0002650	Scoliosis
OMIM:243150	TTC7A	57217	HP:0001539	Omphalocele
OMIM:243150	TTC7A	57217	HP:0001561	Polyhydramnios
OMIM:243150	TTC7A	57217	HP:0000778	Hypoplasia of the thymus
OMIM:243150	TTC7A	57217	HP:0011100	Intestinal atresia
OMIM:243150	TTC7A	57217	HP:0004430	Severe combined immunodeficiency
OMIM:243150	TTC7A	57217	HP:0000924	Abnormality of the skeletal system
OMIM:243150	TTC7A	57217	HP:0002566	Intestinal malrotation
OMIM:243150	TTC7A	57217	HP:0002573	Hematochezia
OMIM:243150	TTC7A	57217	HP:0100867	Duodenal stenosis
OMIM:243150	TTC7A	57217	HP:0001511	Intrauterine growth retardation
OMIM:243150	TTC7A	57217	HP:0000007	Autosomal recessive inheritance
OMIM:243150	TTC7A	57217	HP:0001629	Ventricular septal defect
OMIM:220111	LRPPRC	10128	HP:0001337	Tremor
OMIM:220111	LRPPRC	10128	HP:0000316	Hypertelorism
OMIM:220111	LRPPRC	10128	HP:0002553	Highly arched eyebrow
OMIM:220111	LRPPRC	10128	HP:0001252	Muscular hypotonia
OMIM:220111	LRPPRC	10128	HP:0011800	Hypoplasia of midface
OMIM:220111	LRPPRC	10128	HP:0001263	Global developmental delay
OMIM:220111	LRPPRC	10128	HP:0011220	Prominent forehead
OMIM:220111	LRPPRC	10128	HP:0000272	Malar flattening
OMIM:220111	LRPPRC	10128	HP:0002171	Gliosis
OMIM:220111	LRPPRC	10128	HP:0000750	Delayed speech and language development
OMIM:220111	LRPPRC	10128	HP:0000294	Low anterior hairline
OMIM:220111	LRPPRC	10128	HP:0001508	Failure to thrive
OMIM:220111	LRPPRC	10128	HP:0003074	Hyperglycemia
OMIM:220111	LRPPRC	10128	HP:0003128	Lactic acidosis
OMIM:220111	LRPPRC	10128	HP:0001007	Hirsutism
OMIM:220111	LRPPRC	10128	HP:0001251	Ataxia
OMIM:220111	LRPPRC	10128	HP:0007305	CNS demyelination
OMIM:220111	LRPPRC	10128	HP:0002789	Tachypnea
OMIM:220111	LRPPRC	10128	HP:0000431	Wide nasal bridge
OMIM:220111	LRPPRC	10128	HP:0002490	Increased CSF lactate
OMIM:220111	LRPPRC	10128	HP:0002151	Increased serum lactate
OMIM:220111	LRPPRC	10128	HP:0011096	Peripheral demyelination
OMIM:220111	LRPPRC	10128	HP:0000463	Anteverted nares
OMIM:220111	LRPPRC	10128	HP:0000007	Autosomal recessive inheritance
OMIM:220111	LRPPRC	10128	HP:0001943	Hypoglycemia
OMIM:220111	LRPPRC	10128	HP:0000486	Strabismus
OMIM:220111	LRPPRC	10128	HP:0001250	Seizures
OMIM:220111	LRPPRC	10128	HP:0003593	Infantile onset
OMIM:159555	KMT2A	4297	HP:0000006	Autosomal dominant inheritance
OMIM:159555	KMT2A	4297	HP:0006721	Acute lymphoblastic leukemia
ORPHANET:912	PEX19	5824	HP:0000256	Macrocephaly
ORPHANET:912	PEX19	5824	HP:0000648	Optic atrophy
ORPHANET:912	PEX19	5824	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX19	5824	HP:0000348	High forehead
ORPHANET:912	PEX19	5824	HP:0000286	Epicanthus
ORPHANET:912	PEX19	5824	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX19	5824	HP:0004322	Short stature
ORPHANET:912	PEX19	5824	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX19	5824	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX19	5824	HP:0000347	Micrognathia
ORPHANET:912	PEX19	5824	HP:0100543	Cognitive impairment
ORPHANET:912	PEX19	5824	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX19	5824	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX19	5824	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX19	5824	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX19	5824	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX19	5824	HP:0000505	Visual impairment
ORPHANET:912	PEX19	5824	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX19	5824	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX19	5824	HP:0002024	Malabsorption
ORPHANET:912	PEX19	5824	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX19	5824	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX19	5824	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX19	5824	HP:0002240	Hepatomegaly
ORPHANET:912	PEX19	5824	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX19	5824	HP:0001250	Seizures
ORPHANET:912	PEX19	5824	HP:0002353	EEG abnormality
ORPHANET:912	PEX19	5824	HP:0000272	Malar flattening
ORPHANET:912	PEX19	5824	HP:0000639	Nystagmus
ORPHANET:912	PEX19	5824	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX19	5824	HP:0000252	Microcephaly
ORPHANET:912	PEX19	5824	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX19	5824	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX19	5824	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX19	5824	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX19	5824	HP:0001622	Premature birth
ORPHANET:912	PEX19	5824	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX19	5824	HP:0000518	Cataract
ORPHANET:912	PEX19	5824	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX19	5824	HP:0000028	Cryptorchidism
ORPHANET:912	PEX19	5824	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX19	5824	HP:0008572	External ear malformation
ORPHANET:912	PEX19	5824	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX19	5824	HP:0001399	Hepatic failure
ORPHANET:912	PEX19	5824	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX19	5824	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX19	5824	HP:0000501	Glaucoma
ORPHANET:912	PEX16	9409	HP:0000256	Macrocephaly
ORPHANET:912	PEX16	9409	HP:0000648	Optic atrophy
ORPHANET:912	PEX16	9409	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX16	9409	HP:0000348	High forehead
ORPHANET:912	PEX16	9409	HP:0000286	Epicanthus
ORPHANET:912	PEX16	9409	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX16	9409	HP:0004322	Short stature
ORPHANET:912	PEX16	9409	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX16	9409	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX16	9409	HP:0000347	Micrognathia
ORPHANET:912	PEX16	9409	HP:0100543	Cognitive impairment
ORPHANET:912	PEX16	9409	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX16	9409	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX16	9409	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX16	9409	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX16	9409	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX16	9409	HP:0000505	Visual impairment
ORPHANET:912	PEX16	9409	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX16	9409	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX16	9409	HP:0002024	Malabsorption
ORPHANET:912	PEX16	9409	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX16	9409	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX16	9409	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX16	9409	HP:0002240	Hepatomegaly
ORPHANET:912	PEX16	9409	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX16	9409	HP:0001250	Seizures
ORPHANET:912	PEX16	9409	HP:0002353	EEG abnormality
ORPHANET:912	PEX16	9409	HP:0000272	Malar flattening
ORPHANET:912	PEX16	9409	HP:0000639	Nystagmus
ORPHANET:912	PEX16	9409	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX16	9409	HP:0000252	Microcephaly
ORPHANET:912	PEX16	9409	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX16	9409	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX16	9409	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX16	9409	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX16	9409	HP:0001622	Premature birth
ORPHANET:912	PEX16	9409	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX16	9409	HP:0000518	Cataract
ORPHANET:912	PEX16	9409	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX16	9409	HP:0000028	Cryptorchidism
ORPHANET:912	PEX16	9409	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX16	9409	HP:0008572	External ear malformation
ORPHANET:912	PEX16	9409	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX16	9409	HP:0001399	Hepatic failure
ORPHANET:912	PEX16	9409	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX16	9409	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX16	9409	HP:0000501	Glaucoma
ORPHANET:912	PEX2	5828	HP:0000256	Macrocephaly
ORPHANET:912	PEX2	5828	HP:0000648	Optic atrophy
ORPHANET:912	PEX2	5828	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX2	5828	HP:0000348	High forehead
ORPHANET:912	PEX2	5828	HP:0000286	Epicanthus
ORPHANET:912	PEX2	5828	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX2	5828	HP:0004322	Short stature
ORPHANET:912	PEX2	5828	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX2	5828	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX2	5828	HP:0000347	Micrognathia
ORPHANET:912	PEX2	5828	HP:0100543	Cognitive impairment
ORPHANET:912	PEX2	5828	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX2	5828	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX2	5828	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX2	5828	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX2	5828	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX2	5828	HP:0000505	Visual impairment
ORPHANET:912	PEX2	5828	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX2	5828	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX2	5828	HP:0002024	Malabsorption
ORPHANET:912	PEX2	5828	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX2	5828	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX2	5828	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX2	5828	HP:0002240	Hepatomegaly
ORPHANET:912	PEX2	5828	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX2	5828	HP:0001250	Seizures
ORPHANET:912	PEX2	5828	HP:0002353	EEG abnormality
ORPHANET:912	PEX2	5828	HP:0000272	Malar flattening
ORPHANET:912	PEX2	5828	HP:0000639	Nystagmus
ORPHANET:912	PEX2	5828	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX2	5828	HP:0000252	Microcephaly
ORPHANET:912	PEX2	5828	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX2	5828	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX2	5828	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX2	5828	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX2	5828	HP:0001622	Premature birth
ORPHANET:912	PEX2	5828	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX2	5828	HP:0000518	Cataract
ORPHANET:912	PEX2	5828	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX2	5828	HP:0000028	Cryptorchidism
ORPHANET:912	PEX2	5828	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX2	5828	HP:0008572	External ear malformation
ORPHANET:912	PEX2	5828	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX2	5828	HP:0001399	Hepatic failure
ORPHANET:912	PEX2	5828	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX2	5828	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX2	5828	HP:0000501	Glaucoma
ORPHANET:912	PEX1	5189	HP:0000256	Macrocephaly
ORPHANET:912	PEX1	5189	HP:0000648	Optic atrophy
ORPHANET:912	PEX1	5189	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX1	5189	HP:0000348	High forehead
ORPHANET:912	PEX1	5189	HP:0000286	Epicanthus
ORPHANET:912	PEX1	5189	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX1	5189	HP:0004322	Short stature
ORPHANET:912	PEX1	5189	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX1	5189	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX1	5189	HP:0000347	Micrognathia
ORPHANET:912	PEX1	5189	HP:0100543	Cognitive impairment
ORPHANET:912	PEX1	5189	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX1	5189	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX1	5189	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX1	5189	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX1	5189	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX1	5189	HP:0000505	Visual impairment
ORPHANET:912	PEX1	5189	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX1	5189	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX1	5189	HP:0002024	Malabsorption
ORPHANET:912	PEX1	5189	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX1	5189	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX1	5189	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX1	5189	HP:0002240	Hepatomegaly
ORPHANET:912	PEX1	5189	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX1	5189	HP:0001250	Seizures
ORPHANET:912	PEX1	5189	HP:0002353	EEG abnormality
ORPHANET:912	PEX1	5189	HP:0000272	Malar flattening
ORPHANET:912	PEX1	5189	HP:0000639	Nystagmus
ORPHANET:912	PEX1	5189	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX1	5189	HP:0000252	Microcephaly
ORPHANET:912	PEX1	5189	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX1	5189	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX1	5189	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX1	5189	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX1	5189	HP:0001622	Premature birth
ORPHANET:912	PEX1	5189	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX1	5189	HP:0000518	Cataract
ORPHANET:912	PEX1	5189	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX1	5189	HP:0000028	Cryptorchidism
ORPHANET:912	PEX1	5189	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX1	5189	HP:0008572	External ear malformation
ORPHANET:912	PEX1	5189	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX1	5189	HP:0001399	Hepatic failure
ORPHANET:912	PEX1	5189	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX1	5189	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX1	5189	HP:0000501	Glaucoma
ORPHANET:912	PEX5	5830	HP:0000256	Macrocephaly
ORPHANET:912	PEX5	5830	HP:0000648	Optic atrophy
ORPHANET:912	PEX5	5830	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX5	5830	HP:0000348	High forehead
ORPHANET:912	PEX5	5830	HP:0000286	Epicanthus
ORPHANET:912	PEX5	5830	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX5	5830	HP:0004322	Short stature
ORPHANET:912	PEX5	5830	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX5	5830	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX5	5830	HP:0000347	Micrognathia
ORPHANET:912	PEX5	5830	HP:0100543	Cognitive impairment
ORPHANET:912	PEX5	5830	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX5	5830	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX5	5830	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX5	5830	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX5	5830	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX5	5830	HP:0000505	Visual impairment
ORPHANET:912	PEX5	5830	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX5	5830	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX5	5830	HP:0002024	Malabsorption
ORPHANET:912	PEX5	5830	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX5	5830	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX5	5830	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX5	5830	HP:0002240	Hepatomegaly
ORPHANET:912	PEX5	5830	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX5	5830	HP:0001250	Seizures
ORPHANET:912	PEX5	5830	HP:0002353	EEG abnormality
ORPHANET:912	PEX5	5830	HP:0000272	Malar flattening
ORPHANET:912	PEX5	5830	HP:0000639	Nystagmus
ORPHANET:912	PEX5	5830	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX5	5830	HP:0000252	Microcephaly
ORPHANET:912	PEX5	5830	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX5	5830	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX5	5830	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX5	5830	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX5	5830	HP:0001622	Premature birth
ORPHANET:912	PEX5	5830	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX5	5830	HP:0000518	Cataract
ORPHANET:912	PEX5	5830	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX5	5830	HP:0000028	Cryptorchidism
ORPHANET:912	PEX5	5830	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX5	5830	HP:0008572	External ear malformation
ORPHANET:912	PEX5	5830	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX5	5830	HP:0001399	Hepatic failure
ORPHANET:912	PEX5	5830	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX5	5830	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX5	5830	HP:0000501	Glaucoma
ORPHANET:912	PEX6	5190	HP:0000256	Macrocephaly
ORPHANET:912	PEX6	5190	HP:0000648	Optic atrophy
ORPHANET:912	PEX6	5190	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX6	5190	HP:0000348	High forehead
ORPHANET:912	PEX6	5190	HP:0000286	Epicanthus
ORPHANET:912	PEX6	5190	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX6	5190	HP:0004322	Short stature
ORPHANET:912	PEX6	5190	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX6	5190	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX6	5190	HP:0000347	Micrognathia
ORPHANET:912	PEX6	5190	HP:0100543	Cognitive impairment
ORPHANET:912	PEX6	5190	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX6	5190	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX6	5190	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX6	5190	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX6	5190	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX6	5190	HP:0000505	Visual impairment
ORPHANET:912	PEX6	5190	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX6	5190	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX6	5190	HP:0002024	Malabsorption
ORPHANET:912	PEX6	5190	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX6	5190	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX6	5190	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX6	5190	HP:0002240	Hepatomegaly
ORPHANET:912	PEX6	5190	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX6	5190	HP:0001250	Seizures
ORPHANET:912	PEX6	5190	HP:0002353	EEG abnormality
ORPHANET:912	PEX6	5190	HP:0000272	Malar flattening
ORPHANET:912	PEX6	5190	HP:0000639	Nystagmus
ORPHANET:912	PEX6	5190	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX6	5190	HP:0000252	Microcephaly
ORPHANET:912	PEX6	5190	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX6	5190	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX6	5190	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX6	5190	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX6	5190	HP:0001622	Premature birth
ORPHANET:912	PEX6	5190	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX6	5190	HP:0000518	Cataract
ORPHANET:912	PEX6	5190	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX6	5190	HP:0000028	Cryptorchidism
ORPHANET:912	PEX6	5190	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX6	5190	HP:0008572	External ear malformation
ORPHANET:912	PEX6	5190	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX6	5190	HP:0001399	Hepatic failure
ORPHANET:912	PEX6	5190	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX6	5190	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX6	5190	HP:0000501	Glaucoma
ORPHANET:912	PEX10	5192	HP:0000256	Macrocephaly
ORPHANET:912	PEX10	5192	HP:0000648	Optic atrophy
ORPHANET:912	PEX10	5192	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX10	5192	HP:0000348	High forehead
ORPHANET:912	PEX10	5192	HP:0000286	Epicanthus
ORPHANET:912	PEX10	5192	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX10	5192	HP:0004322	Short stature
ORPHANET:912	PEX10	5192	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX10	5192	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX10	5192	HP:0000347	Micrognathia
ORPHANET:912	PEX10	5192	HP:0100543	Cognitive impairment
ORPHANET:912	PEX10	5192	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX10	5192	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX10	5192	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX10	5192	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX10	5192	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX10	5192	HP:0000505	Visual impairment
ORPHANET:912	PEX10	5192	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX10	5192	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX10	5192	HP:0002024	Malabsorption
ORPHANET:912	PEX10	5192	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX10	5192	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX10	5192	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX10	5192	HP:0002240	Hepatomegaly
ORPHANET:912	PEX10	5192	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX10	5192	HP:0001250	Seizures
ORPHANET:912	PEX10	5192	HP:0002353	EEG abnormality
ORPHANET:912	PEX10	5192	HP:0000272	Malar flattening
ORPHANET:912	PEX10	5192	HP:0000639	Nystagmus
ORPHANET:912	PEX10	5192	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX10	5192	HP:0000252	Microcephaly
ORPHANET:912	PEX10	5192	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX10	5192	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX10	5192	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX10	5192	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX10	5192	HP:0001622	Premature birth
ORPHANET:912	PEX10	5192	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX10	5192	HP:0000518	Cataract
ORPHANET:912	PEX10	5192	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX10	5192	HP:0000028	Cryptorchidism
ORPHANET:912	PEX10	5192	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX10	5192	HP:0008572	External ear malformation
ORPHANET:912	PEX10	5192	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX10	5192	HP:0001399	Hepatic failure
ORPHANET:912	PEX10	5192	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX10	5192	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX10	5192	HP:0000501	Glaucoma
ORPHANET:912	PEX12	5193	HP:0000256	Macrocephaly
ORPHANET:912	PEX12	5193	HP:0000648	Optic atrophy
ORPHANET:912	PEX12	5193	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX12	5193	HP:0000348	High forehead
ORPHANET:912	PEX12	5193	HP:0000286	Epicanthus
ORPHANET:912	PEX12	5193	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX12	5193	HP:0004322	Short stature
ORPHANET:912	PEX12	5193	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX12	5193	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX12	5193	HP:0000347	Micrognathia
ORPHANET:912	PEX12	5193	HP:0100543	Cognitive impairment
ORPHANET:912	PEX12	5193	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX12	5193	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX12	5193	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX12	5193	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX12	5193	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX12	5193	HP:0000505	Visual impairment
ORPHANET:912	PEX12	5193	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX12	5193	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX12	5193	HP:0002024	Malabsorption
ORPHANET:912	PEX12	5193	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX12	5193	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX12	5193	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX12	5193	HP:0002240	Hepatomegaly
ORPHANET:912	PEX12	5193	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX12	5193	HP:0001250	Seizures
ORPHANET:912	PEX12	5193	HP:0002353	EEG abnormality
ORPHANET:912	PEX12	5193	HP:0000272	Malar flattening
ORPHANET:912	PEX12	5193	HP:0000639	Nystagmus
ORPHANET:912	PEX12	5193	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX12	5193	HP:0000252	Microcephaly
ORPHANET:912	PEX12	5193	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX12	5193	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX12	5193	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX12	5193	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX12	5193	HP:0001622	Premature birth
ORPHANET:912	PEX12	5193	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX12	5193	HP:0000518	Cataract
ORPHANET:912	PEX12	5193	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX12	5193	HP:0000028	Cryptorchidism
ORPHANET:912	PEX12	5193	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX12	5193	HP:0008572	External ear malformation
ORPHANET:912	PEX12	5193	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX12	5193	HP:0001399	Hepatic failure
ORPHANET:912	PEX12	5193	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX12	5193	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX12	5193	HP:0000501	Glaucoma
ORPHANET:912	PEX13	5194	HP:0000256	Macrocephaly
ORPHANET:912	PEX13	5194	HP:0000648	Optic atrophy
ORPHANET:912	PEX13	5194	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX13	5194	HP:0000348	High forehead
ORPHANET:912	PEX13	5194	HP:0000286	Epicanthus
ORPHANET:912	PEX13	5194	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX13	5194	HP:0004322	Short stature
ORPHANET:912	PEX13	5194	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX13	5194	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX13	5194	HP:0000347	Micrognathia
ORPHANET:912	PEX13	5194	HP:0100543	Cognitive impairment
ORPHANET:912	PEX13	5194	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX13	5194	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX13	5194	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX13	5194	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX13	5194	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX13	5194	HP:0000505	Visual impairment
ORPHANET:912	PEX13	5194	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX13	5194	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX13	5194	HP:0002024	Malabsorption
ORPHANET:912	PEX13	5194	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX13	5194	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX13	5194	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX13	5194	HP:0002240	Hepatomegaly
ORPHANET:912	PEX13	5194	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX13	5194	HP:0001250	Seizures
ORPHANET:912	PEX13	5194	HP:0002353	EEG abnormality
ORPHANET:912	PEX13	5194	HP:0000272	Malar flattening
ORPHANET:912	PEX13	5194	HP:0000639	Nystagmus
ORPHANET:912	PEX13	5194	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX13	5194	HP:0000252	Microcephaly
ORPHANET:912	PEX13	5194	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX13	5194	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX13	5194	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX13	5194	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX13	5194	HP:0001622	Premature birth
ORPHANET:912	PEX13	5194	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX13	5194	HP:0000518	Cataract
ORPHANET:912	PEX13	5194	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX13	5194	HP:0000028	Cryptorchidism
ORPHANET:912	PEX13	5194	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX13	5194	HP:0008572	External ear malformation
ORPHANET:912	PEX13	5194	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX13	5194	HP:0001399	Hepatic failure
ORPHANET:912	PEX13	5194	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX13	5194	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX13	5194	HP:0000501	Glaucoma
ORPHANET:912	PEX14	5195	HP:0000256	Macrocephaly
ORPHANET:912	PEX14	5195	HP:0000648	Optic atrophy
ORPHANET:912	PEX14	5195	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX14	5195	HP:0000348	High forehead
ORPHANET:912	PEX14	5195	HP:0000286	Epicanthus
ORPHANET:912	PEX14	5195	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX14	5195	HP:0004322	Short stature
ORPHANET:912	PEX14	5195	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX14	5195	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX14	5195	HP:0000347	Micrognathia
ORPHANET:912	PEX14	5195	HP:0100543	Cognitive impairment
ORPHANET:912	PEX14	5195	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX14	5195	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX14	5195	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX14	5195	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX14	5195	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX14	5195	HP:0000505	Visual impairment
ORPHANET:912	PEX14	5195	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX14	5195	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX14	5195	HP:0002024	Malabsorption
ORPHANET:912	PEX14	5195	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX14	5195	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX14	5195	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX14	5195	HP:0002240	Hepatomegaly
ORPHANET:912	PEX14	5195	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX14	5195	HP:0001250	Seizures
ORPHANET:912	PEX14	5195	HP:0002353	EEG abnormality
ORPHANET:912	PEX14	5195	HP:0000272	Malar flattening
ORPHANET:912	PEX14	5195	HP:0000639	Nystagmus
ORPHANET:912	PEX14	5195	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX14	5195	HP:0000252	Microcephaly
ORPHANET:912	PEX14	5195	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX14	5195	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX14	5195	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX14	5195	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX14	5195	HP:0001622	Premature birth
ORPHANET:912	PEX14	5195	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX14	5195	HP:0000518	Cataract
ORPHANET:912	PEX14	5195	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX14	5195	HP:0000028	Cryptorchidism
ORPHANET:912	PEX14	5195	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX14	5195	HP:0008572	External ear malformation
ORPHANET:912	PEX14	5195	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX14	5195	HP:0001399	Hepatic failure
ORPHANET:912	PEX14	5195	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX14	5195	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX14	5195	HP:0000501	Glaucoma
ORPHANET:912	PEX26	55670	HP:0000256	Macrocephaly
ORPHANET:912	PEX26	55670	HP:0000648	Optic atrophy
ORPHANET:912	PEX26	55670	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX26	55670	HP:0000348	High forehead
ORPHANET:912	PEX26	55670	HP:0000286	Epicanthus
ORPHANET:912	PEX26	55670	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX26	55670	HP:0004322	Short stature
ORPHANET:912	PEX26	55670	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX26	55670	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX26	55670	HP:0000347	Micrognathia
ORPHANET:912	PEX26	55670	HP:0100543	Cognitive impairment
ORPHANET:912	PEX26	55670	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX26	55670	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX26	55670	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX26	55670	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX26	55670	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX26	55670	HP:0000505	Visual impairment
ORPHANET:912	PEX26	55670	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX26	55670	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX26	55670	HP:0002024	Malabsorption
ORPHANET:912	PEX26	55670	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX26	55670	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX26	55670	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX26	55670	HP:0002240	Hepatomegaly
ORPHANET:912	PEX26	55670	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX26	55670	HP:0001250	Seizures
ORPHANET:912	PEX26	55670	HP:0002353	EEG abnormality
ORPHANET:912	PEX26	55670	HP:0000272	Malar flattening
ORPHANET:912	PEX26	55670	HP:0000639	Nystagmus
ORPHANET:912	PEX26	55670	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX26	55670	HP:0000252	Microcephaly
ORPHANET:912	PEX26	55670	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX26	55670	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX26	55670	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX26	55670	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX26	55670	HP:0001622	Premature birth
ORPHANET:912	PEX26	55670	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX26	55670	HP:0000518	Cataract
ORPHANET:912	PEX26	55670	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX26	55670	HP:0000028	Cryptorchidism
ORPHANET:912	PEX26	55670	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX26	55670	HP:0008572	External ear malformation
ORPHANET:912	PEX26	55670	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX26	55670	HP:0001399	Hepatic failure
ORPHANET:912	PEX26	55670	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX26	55670	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX26	55670	HP:0000501	Glaucoma
ORPHANET:912	PEX3	8504	HP:0000256	Macrocephaly
ORPHANET:912	PEX3	8504	HP:0000648	Optic atrophy
ORPHANET:912	PEX3	8504	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX3	8504	HP:0000348	High forehead
ORPHANET:912	PEX3	8504	HP:0000286	Epicanthus
ORPHANET:912	PEX3	8504	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX3	8504	HP:0004322	Short stature
ORPHANET:912	PEX3	8504	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX3	8504	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX3	8504	HP:0000347	Micrognathia
ORPHANET:912	PEX3	8504	HP:0100543	Cognitive impairment
ORPHANET:912	PEX3	8504	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX3	8504	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX3	8504	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX3	8504	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX3	8504	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX3	8504	HP:0000505	Visual impairment
ORPHANET:912	PEX3	8504	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX3	8504	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX3	8504	HP:0002024	Malabsorption
ORPHANET:912	PEX3	8504	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX3	8504	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX3	8504	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX3	8504	HP:0002240	Hepatomegaly
ORPHANET:912	PEX3	8504	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX3	8504	HP:0001250	Seizures
ORPHANET:912	PEX3	8504	HP:0002353	EEG abnormality
ORPHANET:912	PEX3	8504	HP:0000272	Malar flattening
ORPHANET:912	PEX3	8504	HP:0000639	Nystagmus
ORPHANET:912	PEX3	8504	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX3	8504	HP:0000252	Microcephaly
ORPHANET:912	PEX3	8504	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX3	8504	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX3	8504	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX3	8504	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX3	8504	HP:0001622	Premature birth
ORPHANET:912	PEX3	8504	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX3	8504	HP:0000518	Cataract
ORPHANET:912	PEX3	8504	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX3	8504	HP:0000028	Cryptorchidism
ORPHANET:912	PEX3	8504	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX3	8504	HP:0008572	External ear malformation
ORPHANET:912	PEX3	8504	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX3	8504	HP:0001399	Hepatic failure
ORPHANET:912	PEX3	8504	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX3	8504	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX3	8504	HP:0000501	Glaucoma
ORPHANET:912	PEX11B	8799	HP:0000256	Macrocephaly
ORPHANET:912	PEX11B	8799	HP:0000648	Optic atrophy
ORPHANET:912	PEX11B	8799	HP:0010655	Epiphyseal stippling
ORPHANET:912	PEX11B	8799	HP:0000348	High forehead
ORPHANET:912	PEX11B	8799	HP:0000286	Epicanthus
ORPHANET:912	PEX11B	8799	HP:0001928	Abnormality of coagulation
ORPHANET:912	PEX11B	8799	HP:0004322	Short stature
ORPHANET:912	PEX11B	8799	HP:0010458	Female pseudohermaphroditism
ORPHANET:912	PEX11B	8799	HP:0000582	Upslanted palpebral fissure
ORPHANET:912	PEX11B	8799	HP:0000347	Micrognathia
ORPHANET:912	PEX11B	8799	HP:0100543	Cognitive impairment
ORPHANET:912	PEX11B	8799	HP:0002093	Respiratory insufficiency
ORPHANET:912	PEX11B	8799	HP:0002652	Skeletal dysplasia
ORPHANET:912	PEX11B	8799	HP:0002021	Pyloric stenosis
ORPHANET:912	PEX11B	8799	HP:0002648	Abnormality of calvarial morphology
ORPHANET:912	PEX11B	8799	HP:0000474	Thickened nuchal skin fold
ORPHANET:912	PEX11B	8799	HP:0000505	Visual impairment
ORPHANET:912	PEX11B	8799	HP:0000157	Abnormality of the tongue
ORPHANET:912	PEX11B	8799	HP:0000174	Abnormality of the palate
ORPHANET:912	PEX11B	8799	HP:0002024	Malabsorption
ORPHANET:912	PEX11B	8799	HP:0001629	Ventricular septal defect
ORPHANET:912	PEX11B	8799	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:912	PEX11B	8799	HP:0008872	Feeding difficulties in infancy
ORPHANET:912	PEX11B	8799	HP:0002240	Hepatomegaly
ORPHANET:912	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
ORPHANET:912	PEX11B	8799	HP:0001250	Seizures
ORPHANET:912	PEX11B	8799	HP:0002353	EEG abnormality
ORPHANET:912	PEX11B	8799	HP:0000272	Malar flattening
ORPHANET:912	PEX11B	8799	HP:0000639	Nystagmus
ORPHANET:912	PEX11B	8799	HP:0100627	Displacement of the external urethral meatus
ORPHANET:912	PEX11B	8799	HP:0000252	Microcephaly
ORPHANET:912	PEX11B	8799	HP:0000532	Chorioretinal abnormality
ORPHANET:912	PEX11B	8799	HP:0008207	Primary adrenal insufficiency
ORPHANET:912	PEX11B	8799	HP:0000627	Posterior embryotoxon
ORPHANET:912	PEX11B	8799	HP:0002269	Abnormality of neuronal migration
ORPHANET:912	PEX11B	8799	HP:0001622	Premature birth
ORPHANET:912	PEX11B	8799	HP:0000003	Multicystic kidney dysplasia
ORPHANET:912	PEX11B	8799	HP:0000518	Cataract
ORPHANET:912	PEX11B	8799	HP:0001252	Muscular hypotonia
ORPHANET:912	PEX11B	8799	HP:0000028	Cryptorchidism
ORPHANET:912	PEX11B	8799	HP:0007759	Opacification of the corneal stroma
ORPHANET:912	PEX11B	8799	HP:0008572	External ear malformation
ORPHANET:912	PEX11B	8799	HP:0001315	Reduced tendon reflexes
ORPHANET:912	PEX11B	8799	HP:0001399	Hepatic failure
ORPHANET:912	PEX11B	8799	HP:0005280	Depressed nasal bridge
ORPHANET:912	PEX11B	8799	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:912	PEX11B	8799	HP:0000501	Glaucoma
OMIM:155100	MYH9	4627	HP:0001658	Myocardial infarction
OMIM:155100	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:155100	MYH9	4627	HP:0000978	Bruising susceptibility
OMIM:155100	MYH9	4627	HP:0003010	Prolonged bleeding time
OMIM:155100	MYH9	4627	HP:0000421	Epistaxis
OMIM:155100	MYH9	4627	HP:0001873	Thrombocytopenia
OMIM:155100	MYH9	4627	HP:0001977	Abnormal thrombosis
OMIM:614809	CFHR1	3078	HP:0000790	Hematuria
OMIM:614809	CFHR1	3078	HP:0000006	Autosomal dominant inheritance
OMIM:614809	CFHR1	3078	HP:0003676	Progressive
OMIM:614809	CFHR1	3078	HP:0003774	Stage 5 chronic kidney disease
OMIM:614809	CFHR1	3078	HP:0000099	Glomerulonephritis
OMIM:614809	CFHR5	81494	HP:0000790	Hematuria
OMIM:614809	CFHR5	81494	HP:0000006	Autosomal dominant inheritance
OMIM:614809	CFHR5	81494	HP:0003676	Progressive
OMIM:614809	CFHR5	81494	HP:0003774	Stage 5 chronic kidney disease
OMIM:614809	CFHR5	81494	HP:0000099	Glomerulonephritis
OMIM:602540	GJB2	2706	HP:0000653	Sparse eyelashes
OMIM:602540	GJB2	2706	HP:0000535	Sparse eyebrow
OMIM:602540	GJB2	2706	HP:0001019	Erythroderma
OMIM:602540	GJB2	2706	HP:0008064	Ichthyosis
OMIM:602540	GJB2	2706	HP:0000982	Palmoplantar keratoderma
OMIM:602540	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:602540	GJB2	2706	HP:0003593	Infantile onset
OMIM:602540	GJB2	2706	HP:0001761	Pes cavus
OMIM:602540	GJB2	2706	HP:0002860	Squamous cell carcinoma
OMIM:602540	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:602540	GJB6	10804	HP:0000653	Sparse eyelashes
OMIM:602540	GJB6	10804	HP:0000535	Sparse eyebrow
OMIM:602540	GJB6	10804	HP:0001019	Erythroderma
OMIM:602540	GJB6	10804	HP:0008064	Ichthyosis
OMIM:602540	GJB6	10804	HP:0000982	Palmoplantar keratoderma
OMIM:602540	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:602540	GJB6	10804	HP:0003593	Infantile onset
OMIM:602540	GJB6	10804	HP:0001761	Pes cavus
OMIM:602540	GJB6	10804	HP:0002860	Squamous cell carcinoma
OMIM:602540	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:612932	ENO3	2027	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612932	ENO3	2027	HP:0003326	Myalgia
OMIM:612932	ENO3	2027	HP:0003546	Exercise intolerance
OMIM:612932	ENO3	2027	HP:0000007	Autosomal recessive inheritance
OMIM:612932	ENO3	2027	HP:0003581	Adult onset
OMIM:222748	DPYS	1807	HP:0000007	Autosomal recessive inheritance
OMIM:222748	DPYS	1807	HP:0001942	Metabolic acidosis
OMIM:222748	DPYS	1807	HP:0001762	Talipes equinovarus
OMIM:222748	DPYS	1807	HP:0002500	Abnormality of the cerebral white matter
OMIM:222748	DPYS	1807	HP:0009803	Short phalanx of finger
OMIM:222748	DPYS	1807	HP:0003812	Phenotypic variability
OMIM:222748	DPYS	1807	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:222748	DPYS	1807	HP:0001357	Plagiocephaly
OMIM:222748	DPYS	1807	HP:0008872	Feeding difficulties in infancy
OMIM:222748	DPYS	1807	HP:0001249	Intellectual disability
OMIM:222748	DPYS	1807	HP:0001510	Growth delay
OMIM:222748	DPYS	1807	HP:0001254	Lethargy
OMIM:222748	DPYS	1807	HP:0007256	Abnormal pyramidal signs
OMIM:222748	DPYS	1807	HP:0000750	Delayed speech and language development
OMIM:222748	DPYS	1807	HP:0002023	Anal atresia
OMIM:222748	DPYS	1807	HP:0001999	Abnormal facial shape
OMIM:222748	DPYS	1807	HP:0001250	Seizures
OMIM:606785	UGT1A1	54658	HP:0000007	Autosomal recessive inheritance
OMIM:606785	UGT1A1	54658	HP:0001392	Abnormality of the liver
OMIM:606785	UGT1A1	54658	HP:0000952	Jaundice
OMIM:610708	OPA1	4976	HP:0000603	Central scotoma
OMIM:610708	OPA1	4976	HP:0000006	Autosomal dominant inheritance
OMIM:610708	OPA1	4976	HP:0007924	Slow decrease in visual acuity
OMIM:610708	OPA1	4976	HP:0000552	Tritanomaly
OMIM:610708	OPA1	4976	HP:0000648	Optic atrophy
OMIM:606995	WDR19	57728	HP:0000805	Enuresis
OMIM:606995	WDR19	57728	HP:0000550	Undetectable electroretinogram
OMIM:606995	WDR19	57728	HP:0000572	Visual loss
OMIM:606995	WDR19	57728	HP:0007875	Congenital blindness
OMIM:606995	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:606995	WDR19	57728	HP:0000639	Nystagmus
OMIM:606995	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:606995	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
OMIM:606995	CEP164	22897	HP:0000805	Enuresis
OMIM:606995	CEP164	22897	HP:0000550	Undetectable electroretinogram
OMIM:606995	CEP164	22897	HP:0000572	Visual loss
OMIM:606995	CEP164	22897	HP:0007875	Congenital blindness
OMIM:606995	CEP164	22897	HP:0000007	Autosomal recessive inheritance
OMIM:606995	CEP164	22897	HP:0000639	Nystagmus
OMIM:606995	CEP164	22897	HP:0000090	Nephronophthisis
OMIM:606995	CEP164	22897	HP:0003774	Stage 5 chronic kidney disease
OMIM:606995	TRAF3IP1	26146	HP:0000805	Enuresis
OMIM:606995	TRAF3IP1	26146	HP:0000550	Undetectable electroretinogram
OMIM:606995	TRAF3IP1	26146	HP:0000572	Visual loss
OMIM:606995	TRAF3IP1	26146	HP:0007875	Congenital blindness
OMIM:606995	TRAF3IP1	26146	HP:0000007	Autosomal recessive inheritance
OMIM:606995	TRAF3IP1	26146	HP:0000639	Nystagmus
OMIM:606995	TRAF3IP1	26146	HP:0000090	Nephronophthisis
OMIM:606995	TRAF3IP1	26146	HP:0003774	Stage 5 chronic kidney disease
OMIM:606995	NPHP1	4867	HP:0000805	Enuresis
OMIM:606995	NPHP1	4867	HP:0000550	Undetectable electroretinogram
OMIM:606995	NPHP1	4867	HP:0000572	Visual loss
OMIM:606995	NPHP1	4867	HP:0007875	Congenital blindness
OMIM:606995	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:606995	NPHP1	4867	HP:0000639	Nystagmus
OMIM:606995	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:606995	NPHP1	4867	HP:0003774	Stage 5 chronic kidney disease
OMIM:606995	NPHP4	261734	HP:0000805	Enuresis
OMIM:606995	NPHP4	261734	HP:0000550	Undetectable electroretinogram
OMIM:606995	NPHP4	261734	HP:0000572	Visual loss
OMIM:606995	NPHP4	261734	HP:0007875	Congenital blindness
OMIM:606995	NPHP4	261734	HP:0000007	Autosomal recessive inheritance
OMIM:606995	NPHP4	261734	HP:0000639	Nystagmus
OMIM:606995	NPHP4	261734	HP:0000090	Nephronophthisis
OMIM:606995	NPHP4	261734	HP:0003774	Stage 5 chronic kidney disease
OMIM:606995	SDCCAG8	10806	HP:0000805	Enuresis
OMIM:606995	SDCCAG8	10806	HP:0000550	Undetectable electroretinogram
OMIM:606995	SDCCAG8	10806	HP:0000572	Visual loss
OMIM:606995	SDCCAG8	10806	HP:0007875	Congenital blindness
OMIM:606995	SDCCAG8	10806	HP:0000007	Autosomal recessive inheritance
OMIM:606995	SDCCAG8	10806	HP:0000639	Nystagmus
OMIM:606995	SDCCAG8	10806	HP:0000090	Nephronophthisis
OMIM:606995	SDCCAG8	10806	HP:0003774	Stage 5 chronic kidney disease
OMIM:606995	NPHP3	27031	HP:0000805	Enuresis
OMIM:606995	NPHP3	27031	HP:0000550	Undetectable electroretinogram
OMIM:606995	NPHP3	27031	HP:0000572	Visual loss
OMIM:606995	NPHP3	27031	HP:0007875	Congenital blindness
OMIM:606995	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:606995	NPHP3	27031	HP:0000639	Nystagmus
OMIM:606995	NPHP3	27031	HP:0000090	Nephronophthisis
OMIM:606995	NPHP3	27031	HP:0003774	Stage 5 chronic kidney disease
OMIM:606995	CEP290	80184	HP:0000805	Enuresis
OMIM:606995	CEP290	80184	HP:0000550	Undetectable electroretinogram
OMIM:606995	CEP290	80184	HP:0000572	Visual loss
OMIM:606995	CEP290	80184	HP:0007875	Congenital blindness
OMIM:606995	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:606995	CEP290	80184	HP:0000639	Nystagmus
OMIM:606995	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:606995	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
OMIM:606995	IQCB1	9657	HP:0000805	Enuresis
OMIM:606995	IQCB1	9657	HP:0000550	Undetectable electroretinogram
OMIM:606995	IQCB1	9657	HP:0000572	Visual loss
OMIM:606995	IQCB1	9657	HP:0007875	Congenital blindness
OMIM:606995	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:606995	IQCB1	9657	HP:0000639	Nystagmus
OMIM:606995	IQCB1	9657	HP:0000090	Nephronophthisis
OMIM:606995	IQCB1	9657	HP:0003774	Stage 5 chronic kidney disease
OMIM:606995	INVS	27130	HP:0000805	Enuresis
OMIM:606995	INVS	27130	HP:0000550	Undetectable electroretinogram
OMIM:606995	INVS	27130	HP:0000572	Visual loss
OMIM:606995	INVS	27130	HP:0007875	Congenital blindness
OMIM:606995	INVS	27130	HP:0000007	Autosomal recessive inheritance
OMIM:606995	INVS	27130	HP:0000639	Nystagmus
OMIM:606995	INVS	27130	HP:0000090	Nephronophthisis
OMIM:606995	INVS	27130	HP:0003774	Stage 5 chronic kidney disease
OMIM:107200	CNGA2	1260	HP:0000458	Anosmia
OMIM:107200	CNGA2	1260	HP:0000006	Autosomal dominant inheritance
OMIM:612736	GAMT	2593	HP:0000007	Autosomal recessive inheritance
OMIM:612736	GAMT	2593	HP:0001276	Hypertonia
OMIM:612736	GAMT	2593	HP:0001263	Global developmental delay
OMIM:612736	GAMT	2593	HP:0001249	Intellectual disability
OMIM:612736	GAMT	2593	HP:0001250	Seizures
OMIM:612736	GAMT	2593	HP:0001336	Myoclonus
OMIM:612736	GAMT	2593	HP:0000750	Delayed speech and language development
OMIM:612736	GAMT	2593	HP:0001251	Ataxia
OMIM:612736	GAMT	2593	HP:0001347	Hyperreflexia
OMIM:146450	MAMLD1	10046	HP:0000006	Autosomal dominant inheritance
OMIM:146450	MAMLD1	10046	HP:0000047	Hypospadias
OMIM:146450	AR	367	HP:0000006	Autosomal dominant inheritance
OMIM:146450	AR	367	HP:0000047	Hypospadias
ORPHANET:428	CASR	846	HP:0000958	Dry skin
ORPHANET:428	CASR	846	HP:0001635	Congestive heart failure
ORPHANET:428	CASR	846	HP:0011675	Arrhythmia
ORPHANET:428	CASR	846	HP:0000648	Optic atrophy
ORPHANET:428	CASR	846	HP:0007400	Irregular hyperpigmentation
ORPHANET:428	CASR	846	HP:0001371	Flexion contracture
ORPHANET:428	CASR	846	HP:0000964	Eczema
ORPHANET:428	CASR	846	HP:0000708	Behavioral abnormality
ORPHANET:428	CASR	846	HP:0004305	Involuntary movements
ORPHANET:428	CASR	846	HP:0002027	Abdominal pain
ORPHANET:428	CASR	846	HP:0002793	Abnormal pattern of respiration
ORPHANET:428	CASR	846	HP:0002905	Hyperphosphatemia
ORPHANET:428	CASR	846	HP:0002901	Hypocalcemia
ORPHANET:428	CASR	846	HP:0003457	EMG abnormality
ORPHANET:428	CASR	846	HP:0004372	Reduced consciousness/confusion
ORPHANET:428	CASR	846	HP:0002150	Hypercalciuria
ORPHANET:428	CASR	846	HP:0001231	Abnormality of the fingernails
ORPHANET:428	CASR	846	HP:0001596	Alopecia
ORPHANET:428	CASR	846	HP:0000787	Nephrolithiasis
ORPHANET:428	CASR	846	HP:0004349	Reduced bone mineral density
ORPHANET:428	CASR	846	HP:0003401	Paresthesia
ORPHANET:428	GNA11	2767	HP:0000958	Dry skin
ORPHANET:428	GNA11	2767	HP:0001635	Congestive heart failure
ORPHANET:428	GNA11	2767	HP:0011675	Arrhythmia
ORPHANET:428	GNA11	2767	HP:0000648	Optic atrophy
ORPHANET:428	GNA11	2767	HP:0007400	Irregular hyperpigmentation
ORPHANET:428	GNA11	2767	HP:0001371	Flexion contracture
ORPHANET:428	GNA11	2767	HP:0000964	Eczema
ORPHANET:428	GNA11	2767	HP:0000708	Behavioral abnormality
ORPHANET:428	GNA11	2767	HP:0004305	Involuntary movements
ORPHANET:428	GNA11	2767	HP:0002027	Abdominal pain
ORPHANET:428	GNA11	2767	HP:0002793	Abnormal pattern of respiration
ORPHANET:428	GNA11	2767	HP:0002905	Hyperphosphatemia
ORPHANET:428	GNA11	2767	HP:0002901	Hypocalcemia
ORPHANET:428	GNA11	2767	HP:0003457	EMG abnormality
ORPHANET:428	GNA11	2767	HP:0004372	Reduced consciousness/confusion
ORPHANET:428	GNA11	2767	HP:0002150	Hypercalciuria
ORPHANET:428	GNA11	2767	HP:0001231	Abnormality of the fingernails
ORPHANET:428	GNA11	2767	HP:0001596	Alopecia
ORPHANET:428	GNA11	2767	HP:0000787	Nephrolithiasis
ORPHANET:428	GNA11	2767	HP:0004349	Reduced bone mineral density
ORPHANET:428	GNA11	2767	HP:0003401	Paresthesia
OMIM:615022	ALOXE3	59344	HP:0001019	Erythroderma
OMIM:615022	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:615022	ALOXE3	59344	HP:0008064	Ichthyosis
OMIM:615022	ALOXE3	59344	HP:0000982	Palmoplantar keratoderma
OMIM:615022	ALOX12B	242	HP:0001019	Erythroderma
OMIM:615022	ALOX12B	242	HP:0000007	Autosomal recessive inheritance
OMIM:615022	ALOX12B	242	HP:0008064	Ichthyosis
OMIM:615022	ALOX12B	242	HP:0000982	Palmoplantar keratoderma
OMIM:615022	CERS3	204219	HP:0001019	Erythroderma
OMIM:615022	CERS3	204219	HP:0000007	Autosomal recessive inheritance
OMIM:615022	CERS3	204219	HP:0008064	Ichthyosis
OMIM:615022	CERS3	204219	HP:0000982	Palmoplantar keratoderma
OMIM:615022	ABCA12	26154	HP:0001019	Erythroderma
OMIM:615022	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:615022	ABCA12	26154	HP:0008064	Ichthyosis
OMIM:615022	ABCA12	26154	HP:0000982	Palmoplantar keratoderma
OMIM:615022	TGM1	7051	HP:0001019	Erythroderma
OMIM:615022	TGM1	7051	HP:0000007	Autosomal recessive inheritance
OMIM:615022	TGM1	7051	HP:0008064	Ichthyosis
OMIM:615022	TGM1	7051	HP:0000982	Palmoplantar keratoderma
OMIM:615022	PNPLA1	285848	HP:0001019	Erythroderma
OMIM:615022	PNPLA1	285848	HP:0000007	Autosomal recessive inheritance
OMIM:615022	PNPLA1	285848	HP:0008064	Ichthyosis
OMIM:615022	PNPLA1	285848	HP:0000982	Palmoplantar keratoderma
OMIM:615022	NIPAL4	348938	HP:0001019	Erythroderma
OMIM:615022	NIPAL4	348938	HP:0000007	Autosomal recessive inheritance
OMIM:615022	NIPAL4	348938	HP:0008064	Ichthyosis
OMIM:615022	NIPAL4	348938	HP:0000982	Palmoplantar keratoderma
OMIM:604403	STX1B	112755	HP:0002121	Absence seizures
OMIM:604403	STX1B	112755	HP:0000006	Autosomal dominant inheritance
OMIM:604403	STX1B	112755	HP:0002123	Generalized myoclonic seizures
OMIM:604403	STX1B	112755	HP:0003828	Variable expressivity
OMIM:604403	STX1B	112755	HP:0002069	Generalized tonic-clonic seizures
OMIM:604403	STX1B	112755	HP:0002373	Febrile seizures
OMIM:604403	STX1B	112755	HP:0011463	Childhood onset
OMIM:604403	STX1B	112755	HP:0010819	Atonic seizures
OMIM:604403	STX1B	112755	HP:0006813	Hemiclonic seizures
OMIM:604403	STX1B	112755	HP:0010818	Generalized tonic seizures
OMIM:604403	SCN1A	6323	HP:0002121	Absence seizures
OMIM:604403	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:604403	SCN1A	6323	HP:0002123	Generalized myoclonic seizures
OMIM:604403	SCN1A	6323	HP:0003828	Variable expressivity
OMIM:604403	SCN1A	6323	HP:0002069	Generalized tonic-clonic seizures
OMIM:604403	SCN1A	6323	HP:0002373	Febrile seizures
OMIM:604403	SCN1A	6323	HP:0011463	Childhood onset
OMIM:604403	SCN1A	6323	HP:0010819	Atonic seizures
OMIM:604403	SCN1A	6323	HP:0006813	Hemiclonic seizures
OMIM:604403	SCN1A	6323	HP:0010818	Generalized tonic seizures
OMIM:604403	GABRD	2563	HP:0002121	Absence seizures
OMIM:604403	GABRD	2563	HP:0000006	Autosomal dominant inheritance
OMIM:604403	GABRD	2563	HP:0002123	Generalized myoclonic seizures
OMIM:604403	GABRD	2563	HP:0003828	Variable expressivity
OMIM:604403	GABRD	2563	HP:0002069	Generalized tonic-clonic seizures
OMIM:604403	GABRD	2563	HP:0002373	Febrile seizures
OMIM:604403	GABRD	2563	HP:0011463	Childhood onset
OMIM:604403	GABRD	2563	HP:0010819	Atonic seizures
OMIM:604403	GABRD	2563	HP:0006813	Hemiclonic seizures
OMIM:604403	GABRD	2563	HP:0010818	Generalized tonic seizures
OMIM:604403	SCN1B	6324	HP:0002121	Absence seizures
OMIM:604403	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:604403	SCN1B	6324	HP:0002123	Generalized myoclonic seizures
OMIM:604403	SCN1B	6324	HP:0003828	Variable expressivity
OMIM:604403	SCN1B	6324	HP:0002069	Generalized tonic-clonic seizures
OMIM:604403	SCN1B	6324	HP:0002373	Febrile seizures
OMIM:604403	SCN1B	6324	HP:0011463	Childhood onset
OMIM:604403	SCN1B	6324	HP:0010819	Atonic seizures
OMIM:604403	SCN1B	6324	HP:0006813	Hemiclonic seizures
OMIM:604403	SCN1B	6324	HP:0010818	Generalized tonic seizures
OMIM:604403	SCN2A	6326	HP:0002121	Absence seizures
OMIM:604403	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:604403	SCN2A	6326	HP:0002123	Generalized myoclonic seizures
OMIM:604403	SCN2A	6326	HP:0003828	Variable expressivity
OMIM:604403	SCN2A	6326	HP:0002069	Generalized tonic-clonic seizures
OMIM:604403	SCN2A	6326	HP:0002373	Febrile seizures
OMIM:604403	SCN2A	6326	HP:0011463	Childhood onset
OMIM:604403	SCN2A	6326	HP:0010819	Atonic seizures
OMIM:604403	SCN2A	6326	HP:0006813	Hemiclonic seizures
OMIM:604403	SCN2A	6326	HP:0010818	Generalized tonic seizures
OMIM:604403	GABRG2	2566	HP:0002121	Absence seizures
OMIM:604403	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:604403	GABRG2	2566	HP:0002123	Generalized myoclonic seizures
OMIM:604403	GABRG2	2566	HP:0003828	Variable expressivity
OMIM:604403	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:604403	GABRG2	2566	HP:0002373	Febrile seizures
OMIM:604403	GABRG2	2566	HP:0011463	Childhood onset
OMIM:604403	GABRG2	2566	HP:0010819	Atonic seizures
OMIM:604403	GABRG2	2566	HP:0006813	Hemiclonic seizures
OMIM:604403	GABRG2	2566	HP:0010818	Generalized tonic seizures
OMIM:604403	SCN9A	6335	HP:0002121	Absence seizures
OMIM:604403	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:604403	SCN9A	6335	HP:0002123	Generalized myoclonic seizures
OMIM:604403	SCN9A	6335	HP:0003828	Variable expressivity
OMIM:604403	SCN9A	6335	HP:0002069	Generalized tonic-clonic seizures
OMIM:604403	SCN9A	6335	HP:0002373	Febrile seizures
OMIM:604403	SCN9A	6335	HP:0011463	Childhood onset
OMIM:604403	SCN9A	6335	HP:0010819	Atonic seizures
OMIM:604403	SCN9A	6335	HP:0006813	Hemiclonic seizures
OMIM:604403	SCN9A	6335	HP:0010818	Generalized tonic seizures
OMIM:611131	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:611131	RLBP1	6017	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	RLBP1	6017	HP:0000613	Photophobia
OMIM:611131	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:611131	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:611131	RLBP1	6017	HP:0000552	Tritanomaly
OMIM:611131	RLBP1	6017	HP:0000642	Red-green dyschromatopsia
OMIM:611131	RLBP1	6017	HP:0008028	Cystoid macular degeneration
OMIM:611131	RLBP1	6017	HP:0000518	Cataract
OMIM:611131	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:611131	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:611131	SPATA7	55812	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	SPATA7	55812	HP:0000613	Photophobia
OMIM:611131	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:611131	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:611131	SPATA7	55812	HP:0000552	Tritanomaly
OMIM:611131	SPATA7	55812	HP:0000642	Red-green dyschromatopsia
OMIM:611131	SPATA7	55812	HP:0008028	Cystoid macular degeneration
OMIM:611131	SPATA7	55812	HP:0000518	Cataract
OMIM:611131	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:611131	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:611131	ARL6	84100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	ARL6	84100	HP:0000613	Photophobia
OMIM:611131	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:611131	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:611131	ARL6	84100	HP:0000552	Tritanomaly
OMIM:611131	ARL6	84100	HP:0000642	Red-green dyschromatopsia
OMIM:611131	ARL6	84100	HP:0008028	Cystoid macular degeneration
OMIM:611131	ARL6	84100	HP:0000518	Cataract
OMIM:611131	ARL6	84100	HP:0000662	Nyctalopia
OMIM:611131	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:611131	CERKL	375298	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	CERKL	375298	HP:0000613	Photophobia
OMIM:611131	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:611131	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:611131	CERKL	375298	HP:0000552	Tritanomaly
OMIM:611131	CERKL	375298	HP:0000642	Red-green dyschromatopsia
OMIM:611131	CERKL	375298	HP:0008028	Cystoid macular degeneration
OMIM:611131	CERKL	375298	HP:0000518	Cataract
OMIM:611131	CERKL	375298	HP:0000662	Nyctalopia
OMIM:611131	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:611131	PRPF31	26121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	PRPF31	26121	HP:0000613	Photophobia
OMIM:611131	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:611131	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:611131	PRPF31	26121	HP:0000552	Tritanomaly
OMIM:611131	PRPF31	26121	HP:0000642	Red-green dyschromatopsia
OMIM:611131	PRPF31	26121	HP:0008028	Cystoid macular degeneration
OMIM:611131	PRPF31	26121	HP:0000518	Cataract
OMIM:611131	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:611131	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:611131	TTC8	123016	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	TTC8	123016	HP:0000613	Photophobia
OMIM:611131	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:611131	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:611131	TTC8	123016	HP:0000552	Tritanomaly
OMIM:611131	TTC8	123016	HP:0000642	Red-green dyschromatopsia
OMIM:611131	TTC8	123016	HP:0008028	Cystoid macular degeneration
OMIM:611131	TTC8	123016	HP:0000518	Cataract
OMIM:611131	TTC8	123016	HP:0000662	Nyctalopia
OMIM:611131	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:611131	PROM1	8842	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	PROM1	8842	HP:0000613	Photophobia
OMIM:611131	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:611131	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:611131	PROM1	8842	HP:0000552	Tritanomaly
OMIM:611131	PROM1	8842	HP:0000642	Red-green dyschromatopsia
OMIM:611131	PROM1	8842	HP:0008028	Cystoid macular degeneration
OMIM:611131	PROM1	8842	HP:0000518	Cataract
OMIM:611131	PROM1	8842	HP:0000662	Nyctalopia
OMIM:611131	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:611131	LRAT	9227	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	LRAT	9227	HP:0000613	Photophobia
OMIM:611131	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:611131	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:611131	LRAT	9227	HP:0000552	Tritanomaly
OMIM:611131	LRAT	9227	HP:0000642	Red-green dyschromatopsia
OMIM:611131	LRAT	9227	HP:0008028	Cystoid macular degeneration
OMIM:611131	LRAT	9227	HP:0000518	Cataract
OMIM:611131	LRAT	9227	HP:0000662	Nyctalopia
OMIM:611131	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:611131	IFT140	9742	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	IFT140	9742	HP:0000613	Photophobia
OMIM:611131	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:611131	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:611131	IFT140	9742	HP:0000552	Tritanomaly
OMIM:611131	IFT140	9742	HP:0000642	Red-green dyschromatopsia
OMIM:611131	IFT140	9742	HP:0008028	Cystoid macular degeneration
OMIM:611131	IFT140	9742	HP:0000518	Cataract
OMIM:611131	IFT140	9742	HP:0000662	Nyctalopia
OMIM:611131	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:611131	BEST1	7439	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	BEST1	7439	HP:0000613	Photophobia
OMIM:611131	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:611131	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:611131	BEST1	7439	HP:0000552	Tritanomaly
OMIM:611131	BEST1	7439	HP:0000642	Red-green dyschromatopsia
OMIM:611131	BEST1	7439	HP:0008028	Cystoid macular degeneration
OMIM:611131	BEST1	7439	HP:0000518	Cataract
OMIM:611131	BEST1	7439	HP:0000662	Nyctalopia
OMIM:611131	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:611131	NEK2	4751	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	NEK2	4751	HP:0000613	Photophobia
OMIM:611131	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:611131	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:611131	NEK2	4751	HP:0000552	Tritanomaly
OMIM:611131	NEK2	4751	HP:0000642	Red-green dyschromatopsia
OMIM:611131	NEK2	4751	HP:0008028	Cystoid macular degeneration
OMIM:611131	NEK2	4751	HP:0000518	Cataract
OMIM:611131	NEK2	4751	HP:0000662	Nyctalopia
OMIM:611131	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:611131	ARL2BP	23568	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	ARL2BP	23568	HP:0000613	Photophobia
OMIM:611131	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:611131	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:611131	ARL2BP	23568	HP:0000552	Tritanomaly
OMIM:611131	ARL2BP	23568	HP:0000642	Red-green dyschromatopsia
OMIM:611131	ARL2BP	23568	HP:0008028	Cystoid macular degeneration
OMIM:611131	ARL2BP	23568	HP:0000518	Cataract
OMIM:611131	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:611131	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:611131	NR2E3	10002	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	NR2E3	10002	HP:0000613	Photophobia
OMIM:611131	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:611131	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:611131	NR2E3	10002	HP:0000552	Tritanomaly
OMIM:611131	NR2E3	10002	HP:0000642	Red-green dyschromatopsia
OMIM:611131	NR2E3	10002	HP:0008028	Cystoid macular degeneration
OMIM:611131	NR2E3	10002	HP:0000518	Cataract
OMIM:611131	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:611131	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:611131	EYS	346007	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	EYS	346007	HP:0000613	Photophobia
OMIM:611131	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:611131	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:611131	EYS	346007	HP:0000552	Tritanomaly
OMIM:611131	EYS	346007	HP:0000642	Red-green dyschromatopsia
OMIM:611131	EYS	346007	HP:0008028	Cystoid macular degeneration
OMIM:611131	EYS	346007	HP:0000518	Cataract
OMIM:611131	EYS	346007	HP:0000662	Nyctalopia
OMIM:611131	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:611131	MAK	4117	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	MAK	4117	HP:0000613	Photophobia
OMIM:611131	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:611131	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:611131	MAK	4117	HP:0000552	Tritanomaly
OMIM:611131	MAK	4117	HP:0000642	Red-green dyschromatopsia
OMIM:611131	MAK	4117	HP:0008028	Cystoid macular degeneration
OMIM:611131	MAK	4117	HP:0000518	Cataract
OMIM:611131	MAK	4117	HP:0000662	Nyctalopia
OMIM:611131	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:611131	SAG	6295	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	SAG	6295	HP:0000613	Photophobia
OMIM:611131	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:611131	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:611131	SAG	6295	HP:0000552	Tritanomaly
OMIM:611131	SAG	6295	HP:0000642	Red-green dyschromatopsia
OMIM:611131	SAG	6295	HP:0008028	Cystoid macular degeneration
OMIM:611131	SAG	6295	HP:0000518	Cataract
OMIM:611131	SAG	6295	HP:0000662	Nyctalopia
OMIM:611131	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:611131	ABCA4	24	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	ABCA4	24	HP:0000613	Photophobia
OMIM:611131	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:611131	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:611131	ABCA4	24	HP:0000552	Tritanomaly
OMIM:611131	ABCA4	24	HP:0000642	Red-green dyschromatopsia
OMIM:611131	ABCA4	24	HP:0008028	Cystoid macular degeneration
OMIM:611131	ABCA4	24	HP:0000518	Cataract
OMIM:611131	ABCA4	24	HP:0000662	Nyctalopia
OMIM:611131	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:611131	PDE6A	5145	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	PDE6A	5145	HP:0000613	Photophobia
OMIM:611131	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:611131	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:611131	PDE6A	5145	HP:0000552	Tritanomaly
OMIM:611131	PDE6A	5145	HP:0000642	Red-green dyschromatopsia
OMIM:611131	PDE6A	5145	HP:0008028	Cystoid macular degeneration
OMIM:611131	PDE6A	5145	HP:0000518	Cataract
OMIM:611131	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:611131	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:611131	PDE6G	5148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	PDE6G	5148	HP:0000613	Photophobia
OMIM:611131	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:611131	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:611131	PDE6G	5148	HP:0000552	Tritanomaly
OMIM:611131	PDE6G	5148	HP:0000642	Red-green dyschromatopsia
OMIM:611131	PDE6G	5148	HP:0008028	Cystoid macular degeneration
OMIM:611131	PDE6G	5148	HP:0000518	Cataract
OMIM:611131	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:611131	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:611131	IMPDH1	3614	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	IMPDH1	3614	HP:0000613	Photophobia
OMIM:611131	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:611131	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:611131	IMPDH1	3614	HP:0000552	Tritanomaly
OMIM:611131	IMPDH1	3614	HP:0000642	Red-green dyschromatopsia
OMIM:611131	IMPDH1	3614	HP:0008028	Cystoid macular degeneration
OMIM:611131	IMPDH1	3614	HP:0000518	Cataract
OMIM:611131	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:611131	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:611131	OFD1	8481	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	OFD1	8481	HP:0000613	Photophobia
OMIM:611131	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:611131	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:611131	OFD1	8481	HP:0000552	Tritanomaly
OMIM:611131	OFD1	8481	HP:0000642	Red-green dyschromatopsia
OMIM:611131	OFD1	8481	HP:0008028	Cystoid macular degeneration
OMIM:611131	OFD1	8481	HP:0000518	Cataract
OMIM:611131	OFD1	8481	HP:0000662	Nyctalopia
OMIM:611131	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:611131	GUCA1B	2979	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	GUCA1B	2979	HP:0000613	Photophobia
OMIM:611131	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:611131	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:611131	GUCA1B	2979	HP:0000552	Tritanomaly
OMIM:611131	GUCA1B	2979	HP:0000642	Red-green dyschromatopsia
OMIM:611131	GUCA1B	2979	HP:0008028	Cystoid macular degeneration
OMIM:611131	GUCA1B	2979	HP:0000518	Cataract
OMIM:611131	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:611131	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:611131	NRL	4901	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	NRL	4901	HP:0000613	Photophobia
OMIM:611131	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:611131	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:611131	NRL	4901	HP:0000552	Tritanomaly
OMIM:611131	NRL	4901	HP:0000642	Red-green dyschromatopsia
OMIM:611131	NRL	4901	HP:0008028	Cystoid macular degeneration
OMIM:611131	NRL	4901	HP:0000518	Cataract
OMIM:611131	NRL	4901	HP:0000662	Nyctalopia
OMIM:611131	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:611131	PDE6B	5158	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	PDE6B	5158	HP:0000613	Photophobia
OMIM:611131	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:611131	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:611131	PDE6B	5158	HP:0000552	Tritanomaly
OMIM:611131	PDE6B	5158	HP:0000642	Red-green dyschromatopsia
OMIM:611131	PDE6B	5158	HP:0008028	Cystoid macular degeneration
OMIM:611131	PDE6B	5158	HP:0000518	Cataract
OMIM:611131	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:611131	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:611131	KLHL7	55975	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	KLHL7	55975	HP:0000613	Photophobia
OMIM:611131	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:611131	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:611131	KLHL7	55975	HP:0000552	Tritanomaly
OMIM:611131	KLHL7	55975	HP:0000642	Red-green dyschromatopsia
OMIM:611131	KLHL7	55975	HP:0008028	Cystoid macular degeneration
OMIM:611131	KLHL7	55975	HP:0000518	Cataract
OMIM:611131	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:611131	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:611131	PRPF4	9128	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	PRPF4	9128	HP:0000613	Photophobia
OMIM:611131	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:611131	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:611131	PRPF4	9128	HP:0000552	Tritanomaly
OMIM:611131	PRPF4	9128	HP:0000642	Red-green dyschromatopsia
OMIM:611131	PRPF4	9128	HP:0008028	Cystoid macular degeneration
OMIM:611131	PRPF4	9128	HP:0000518	Cataract
OMIM:611131	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:611131	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:611131	PRPF3	9129	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	PRPF3	9129	HP:0000613	Photophobia
OMIM:611131	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:611131	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:611131	PRPF3	9129	HP:0000552	Tritanomaly
OMIM:611131	PRPF3	9129	HP:0000642	Red-green dyschromatopsia
OMIM:611131	PRPF3	9129	HP:0008028	Cystoid macular degeneration
OMIM:611131	PRPF3	9129	HP:0000518	Cataract
OMIM:611131	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:611131	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:611131	FAM161A	84140	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	FAM161A	84140	HP:0000613	Photophobia
OMIM:611131	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:611131	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:611131	FAM161A	84140	HP:0000552	Tritanomaly
OMIM:611131	FAM161A	84140	HP:0000642	Red-green dyschromatopsia
OMIM:611131	FAM161A	84140	HP:0008028	Cystoid macular degeneration
OMIM:611131	FAM161A	84140	HP:0000518	Cataract
OMIM:611131	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:611131	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:611131	IFT172	26160	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	IFT172	26160	HP:0000613	Photophobia
OMIM:611131	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:611131	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:611131	IFT172	26160	HP:0000552	Tritanomaly
OMIM:611131	IFT172	26160	HP:0000642	Red-green dyschromatopsia
OMIM:611131	IFT172	26160	HP:0008028	Cystoid macular degeneration
OMIM:611131	IFT172	26160	HP:0000518	Cataract
OMIM:611131	IFT172	26160	HP:0000662	Nyctalopia
OMIM:611131	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:611131	KIZ	55857	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	KIZ	55857	HP:0000613	Photophobia
OMIM:611131	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:611131	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:611131	KIZ	55857	HP:0000552	Tritanomaly
OMIM:611131	KIZ	55857	HP:0000642	Red-green dyschromatopsia
OMIM:611131	KIZ	55857	HP:0008028	Cystoid macular degeneration
OMIM:611131	KIZ	55857	HP:0000518	Cataract
OMIM:611131	KIZ	55857	HP:0000662	Nyctalopia
OMIM:611131	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:611131	CDHR1	92211	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	CDHR1	92211	HP:0000613	Photophobia
OMIM:611131	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:611131	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:611131	CDHR1	92211	HP:0000552	Tritanomaly
OMIM:611131	CDHR1	92211	HP:0000642	Red-green dyschromatopsia
OMIM:611131	CDHR1	92211	HP:0008028	Cystoid macular degeneration
OMIM:611131	CDHR1	92211	HP:0000518	Cataract
OMIM:611131	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:611131	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:611131	ZNF408	79797	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	ZNF408	79797	HP:0000613	Photophobia
OMIM:611131	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:611131	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:611131	ZNF408	79797	HP:0000552	Tritanomaly
OMIM:611131	ZNF408	79797	HP:0000642	Red-green dyschromatopsia
OMIM:611131	ZNF408	79797	HP:0008028	Cystoid macular degeneration
OMIM:611131	ZNF408	79797	HP:0000518	Cataract
OMIM:611131	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:611131	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:611131	RBP3	5949	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	RBP3	5949	HP:0000613	Photophobia
OMIM:611131	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:611131	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:611131	RBP3	5949	HP:0000552	Tritanomaly
OMIM:611131	RBP3	5949	HP:0000642	Red-green dyschromatopsia
OMIM:611131	RBP3	5949	HP:0008028	Cystoid macular degeneration
OMIM:611131	RBP3	5949	HP:0000518	Cataract
OMIM:611131	RBP3	5949	HP:0000662	Nyctalopia
OMIM:611131	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:611131	HGSNAT	138050	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	HGSNAT	138050	HP:0000613	Photophobia
OMIM:611131	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:611131	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:611131	HGSNAT	138050	HP:0000552	Tritanomaly
OMIM:611131	HGSNAT	138050	HP:0000642	Red-green dyschromatopsia
OMIM:611131	HGSNAT	138050	HP:0008028	Cystoid macular degeneration
OMIM:611131	HGSNAT	138050	HP:0000518	Cataract
OMIM:611131	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:611131	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:611131	FSCN2	25794	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	FSCN2	25794	HP:0000613	Photophobia
OMIM:611131	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:611131	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:611131	FSCN2	25794	HP:0000552	Tritanomaly
OMIM:611131	FSCN2	25794	HP:0000642	Red-green dyschromatopsia
OMIM:611131	FSCN2	25794	HP:0008028	Cystoid macular degeneration
OMIM:611131	FSCN2	25794	HP:0000518	Cataract
OMIM:611131	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:611131	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:611131	PRCD	768206	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	PRCD	768206	HP:0000613	Photophobia
OMIM:611131	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:611131	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:611131	PRCD	768206	HP:0000552	Tritanomaly
OMIM:611131	PRCD	768206	HP:0000642	Red-green dyschromatopsia
OMIM:611131	PRCD	768206	HP:0008028	Cystoid macular degeneration
OMIM:611131	PRCD	768206	HP:0000518	Cataract
OMIM:611131	PRCD	768206	HP:0000662	Nyctalopia
OMIM:611131	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:611131	BBS2	583	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	BBS2	583	HP:0000613	Photophobia
OMIM:611131	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:611131	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:611131	BBS2	583	HP:0000552	Tritanomaly
OMIM:611131	BBS2	583	HP:0000642	Red-green dyschromatopsia
OMIM:611131	BBS2	583	HP:0008028	Cystoid macular degeneration
OMIM:611131	BBS2	583	HP:0000518	Cataract
OMIM:611131	BBS2	583	HP:0000662	Nyctalopia
OMIM:611131	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:611131	RDH12	145226	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	RDH12	145226	HP:0000613	Photophobia
OMIM:611131	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:611131	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:611131	RDH12	145226	HP:0000552	Tritanomaly
OMIM:611131	RDH12	145226	HP:0000642	Red-green dyschromatopsia
OMIM:611131	RDH12	145226	HP:0008028	Cystoid macular degeneration
OMIM:611131	RDH12	145226	HP:0000518	Cataract
OMIM:611131	RDH12	145226	HP:0000662	Nyctalopia
OMIM:611131	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:611131	PRPH2	5961	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	PRPH2	5961	HP:0000613	Photophobia
OMIM:611131	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:611131	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:611131	PRPH2	5961	HP:0000552	Tritanomaly
OMIM:611131	PRPH2	5961	HP:0000642	Red-green dyschromatopsia
OMIM:611131	PRPH2	5961	HP:0008028	Cystoid macular degeneration
OMIM:611131	PRPH2	5961	HP:0000518	Cataract
OMIM:611131	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:611131	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:611131	DHDDS	79947	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	DHDDS	79947	HP:0000613	Photophobia
OMIM:611131	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:611131	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:611131	DHDDS	79947	HP:0000552	Tritanomaly
OMIM:611131	DHDDS	79947	HP:0000642	Red-green dyschromatopsia
OMIM:611131	DHDDS	79947	HP:0008028	Cystoid macular degeneration
OMIM:611131	DHDDS	79947	HP:0000518	Cataract
OMIM:611131	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:611131	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:611131	ROM1	6094	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	ROM1	6094	HP:0000613	Photophobia
OMIM:611131	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:611131	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:611131	ROM1	6094	HP:0000552	Tritanomaly
OMIM:611131	ROM1	6094	HP:0000642	Red-green dyschromatopsia
OMIM:611131	ROM1	6094	HP:0008028	Cystoid macular degeneration
OMIM:611131	ROM1	6094	HP:0000518	Cataract
OMIM:611131	ROM1	6094	HP:0000662	Nyctalopia
OMIM:611131	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:611131	C2ORF71	388939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	C2ORF71	388939	HP:0000613	Photophobia
OMIM:611131	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:611131	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:611131	C2ORF71	388939	HP:0000552	Tritanomaly
OMIM:611131	C2ORF71	388939	HP:0000642	Red-green dyschromatopsia
OMIM:611131	C2ORF71	388939	HP:0008028	Cystoid macular degeneration
OMIM:611131	C2ORF71	388939	HP:0000518	Cataract
OMIM:611131	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:611131	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:611131	RP9	6100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	RP9	6100	HP:0000613	Photophobia
OMIM:611131	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:611131	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:611131	RP9	6100	HP:0000552	Tritanomaly
OMIM:611131	RP9	6100	HP:0000642	Red-green dyschromatopsia
OMIM:611131	RP9	6100	HP:0008028	Cystoid macular degeneration
OMIM:611131	RP9	6100	HP:0000518	Cataract
OMIM:611131	RP9	6100	HP:0000662	Nyctalopia
OMIM:611131	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:611131	PRPF6	24148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	PRPF6	24148	HP:0000613	Photophobia
OMIM:611131	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:611131	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:611131	PRPF6	24148	HP:0000552	Tritanomaly
OMIM:611131	PRPF6	24148	HP:0000642	Red-green dyschromatopsia
OMIM:611131	PRPF6	24148	HP:0008028	Cystoid macular degeneration
OMIM:611131	PRPF6	24148	HP:0000518	Cataract
OMIM:611131	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:611131	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:611131	RP1	6101	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	RP1	6101	HP:0000613	Photophobia
OMIM:611131	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:611131	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:611131	RP1	6101	HP:0000552	Tritanomaly
OMIM:611131	RP1	6101	HP:0000642	Red-green dyschromatopsia
OMIM:611131	RP1	6101	HP:0008028	Cystoid macular degeneration
OMIM:611131	RP1	6101	HP:0000518	Cataract
OMIM:611131	RP1	6101	HP:0000662	Nyctalopia
OMIM:611131	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:611131	RP2	6102	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	RP2	6102	HP:0000613	Photophobia
OMIM:611131	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:611131	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:611131	RP2	6102	HP:0000552	Tritanomaly
OMIM:611131	RP2	6102	HP:0000642	Red-green dyschromatopsia
OMIM:611131	RP2	6102	HP:0008028	Cystoid macular degeneration
OMIM:611131	RP2	6102	HP:0000518	Cataract
OMIM:611131	RP2	6102	HP:0000662	Nyctalopia
OMIM:611131	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:611131	RPGR	6103	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	RPGR	6103	HP:0000613	Photophobia
OMIM:611131	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:611131	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:611131	RPGR	6103	HP:0000552	Tritanomaly
OMIM:611131	RPGR	6103	HP:0000642	Red-green dyschromatopsia
OMIM:611131	RPGR	6103	HP:0008028	Cystoid macular degeneration
OMIM:611131	RPGR	6103	HP:0000518	Cataract
OMIM:611131	RPGR	6103	HP:0000662	Nyctalopia
OMIM:611131	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:611131	SEMA4A	64218	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	SEMA4A	64218	HP:0000613	Photophobia
OMIM:611131	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:611131	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:611131	SEMA4A	64218	HP:0000552	Tritanomaly
OMIM:611131	SEMA4A	64218	HP:0000642	Red-green dyschromatopsia
OMIM:611131	SEMA4A	64218	HP:0008028	Cystoid macular degeneration
OMIM:611131	SEMA4A	64218	HP:0000518	Cataract
OMIM:611131	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:611131	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:611131	C8ORF37	157657	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	C8ORF37	157657	HP:0000613	Photophobia
OMIM:611131	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:611131	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:611131	C8ORF37	157657	HP:0000552	Tritanomaly
OMIM:611131	C8ORF37	157657	HP:0000642	Red-green dyschromatopsia
OMIM:611131	C8ORF37	157657	HP:0008028	Cystoid macular degeneration
OMIM:611131	C8ORF37	157657	HP:0000518	Cataract
OMIM:611131	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:611131	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:611131	IDH3B	3420	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	IDH3B	3420	HP:0000613	Photophobia
OMIM:611131	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:611131	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:611131	IDH3B	3420	HP:0000552	Tritanomaly
OMIM:611131	IDH3B	3420	HP:0000642	Red-green dyschromatopsia
OMIM:611131	IDH3B	3420	HP:0008028	Cystoid macular degeneration
OMIM:611131	IDH3B	3420	HP:0000518	Cataract
OMIM:611131	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:611131	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:611131	MERTK	10461	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	MERTK	10461	HP:0000613	Photophobia
OMIM:611131	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:611131	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:611131	MERTK	10461	HP:0000552	Tritanomaly
OMIM:611131	MERTK	10461	HP:0000642	Red-green dyschromatopsia
OMIM:611131	MERTK	10461	HP:0008028	Cystoid macular degeneration
OMIM:611131	MERTK	10461	HP:0000518	Cataract
OMIM:611131	MERTK	10461	HP:0000662	Nyctalopia
OMIM:611131	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:611131	PRPF8	10594	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	PRPF8	10594	HP:0000613	Photophobia
OMIM:611131	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:611131	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:611131	PRPF8	10594	HP:0000552	Tritanomaly
OMIM:611131	PRPF8	10594	HP:0000642	Red-green dyschromatopsia
OMIM:611131	PRPF8	10594	HP:0008028	Cystoid macular degeneration
OMIM:611131	PRPF8	10594	HP:0000518	Cataract
OMIM:611131	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:611131	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:611131	TOPORS	10210	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	TOPORS	10210	HP:0000613	Photophobia
OMIM:611131	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:611131	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:611131	TOPORS	10210	HP:0000552	Tritanomaly
OMIM:611131	TOPORS	10210	HP:0000642	Red-green dyschromatopsia
OMIM:611131	TOPORS	10210	HP:0008028	Cystoid macular degeneration
OMIM:611131	TOPORS	10210	HP:0000518	Cataract
OMIM:611131	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:611131	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:611131	USH2A	7399	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	USH2A	7399	HP:0000613	Photophobia
OMIM:611131	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:611131	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:611131	USH2A	7399	HP:0000552	Tritanomaly
OMIM:611131	USH2A	7399	HP:0000642	Red-green dyschromatopsia
OMIM:611131	USH2A	7399	HP:0008028	Cystoid macular degeneration
OMIM:611131	USH2A	7399	HP:0000518	Cataract
OMIM:611131	USH2A	7399	HP:0000662	Nyctalopia
OMIM:611131	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:611131	RPE65	6121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	RPE65	6121	HP:0000613	Photophobia
OMIM:611131	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:611131	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:611131	RPE65	6121	HP:0000552	Tritanomaly
OMIM:611131	RPE65	6121	HP:0000642	Red-green dyschromatopsia
OMIM:611131	RPE65	6121	HP:0008028	Cystoid macular degeneration
OMIM:611131	RPE65	6121	HP:0000518	Cataract
OMIM:611131	RPE65	6121	HP:0000662	Nyctalopia
OMIM:611131	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:611131	CLRN1	7401	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	CLRN1	7401	HP:0000613	Photophobia
OMIM:611131	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:611131	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:611131	CLRN1	7401	HP:0000552	Tritanomaly
OMIM:611131	CLRN1	7401	HP:0000642	Red-green dyschromatopsia
OMIM:611131	CLRN1	7401	HP:0008028	Cystoid macular degeneration
OMIM:611131	CLRN1	7401	HP:0000518	Cataract
OMIM:611131	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:611131	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:611131	CNGB1	1258	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	CNGB1	1258	HP:0000613	Photophobia
OMIM:611131	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:611131	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:611131	CNGB1	1258	HP:0000552	Tritanomaly
OMIM:611131	CNGB1	1258	HP:0000642	Red-green dyschromatopsia
OMIM:611131	CNGB1	1258	HP:0008028	Cystoid macular degeneration
OMIM:611131	CNGB1	1258	HP:0000518	Cataract
OMIM:611131	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:611131	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:611131	RGR	5995	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	RGR	5995	HP:0000613	Photophobia
OMIM:611131	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:611131	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:611131	RGR	5995	HP:0000552	Tritanomaly
OMIM:611131	RGR	5995	HP:0000642	Red-green dyschromatopsia
OMIM:611131	RGR	5995	HP:0008028	Cystoid macular degeneration
OMIM:611131	RGR	5995	HP:0000518	Cataract
OMIM:611131	RGR	5995	HP:0000662	Nyctalopia
OMIM:611131	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:611131	CNGA1	1259	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	CNGA1	1259	HP:0000613	Photophobia
OMIM:611131	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:611131	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:611131	CNGA1	1259	HP:0000552	Tritanomaly
OMIM:611131	CNGA1	1259	HP:0000642	Red-green dyschromatopsia
OMIM:611131	CNGA1	1259	HP:0008028	Cystoid macular degeneration
OMIM:611131	CNGA1	1259	HP:0000518	Cataract
OMIM:611131	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:611131	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:611131	TUB	7275	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	TUB	7275	HP:0000613	Photophobia
OMIM:611131	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:611131	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:611131	TUB	7275	HP:0000552	Tritanomaly
OMIM:611131	TUB	7275	HP:0000642	Red-green dyschromatopsia
OMIM:611131	TUB	7275	HP:0008028	Cystoid macular degeneration
OMIM:611131	TUB	7275	HP:0000518	Cataract
OMIM:611131	TUB	7275	HP:0000662	Nyctalopia
OMIM:611131	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:611131	SNRNP200	23020	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	SNRNP200	23020	HP:0000613	Photophobia
OMIM:611131	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:611131	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:611131	SNRNP200	23020	HP:0000552	Tritanomaly
OMIM:611131	SNRNP200	23020	HP:0000642	Red-green dyschromatopsia
OMIM:611131	SNRNP200	23020	HP:0008028	Cystoid macular degeneration
OMIM:611131	SNRNP200	23020	HP:0000518	Cataract
OMIM:611131	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:611131	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:611131	SLC7A14	57709	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	SLC7A14	57709	HP:0000613	Photophobia
OMIM:611131	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:611131	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:611131	SLC7A14	57709	HP:0000552	Tritanomaly
OMIM:611131	SLC7A14	57709	HP:0000642	Red-green dyschromatopsia
OMIM:611131	SLC7A14	57709	HP:0008028	Cystoid macular degeneration
OMIM:611131	SLC7A14	57709	HP:0000518	Cataract
OMIM:611131	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:611131	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:611131	TULP1	7287	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	TULP1	7287	HP:0000613	Photophobia
OMIM:611131	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:611131	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:611131	TULP1	7287	HP:0000552	Tritanomaly
OMIM:611131	TULP1	7287	HP:0000642	Red-green dyschromatopsia
OMIM:611131	TULP1	7287	HP:0008028	Cystoid macular degeneration
OMIM:611131	TULP1	7287	HP:0000518	Cataract
OMIM:611131	TULP1	7287	HP:0000662	Nyctalopia
OMIM:611131	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:611131	RHO	6010	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	RHO	6010	HP:0000613	Photophobia
OMIM:611131	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:611131	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:611131	RHO	6010	HP:0000552	Tritanomaly
OMIM:611131	RHO	6010	HP:0000642	Red-green dyschromatopsia
OMIM:611131	RHO	6010	HP:0008028	Cystoid macular degeneration
OMIM:611131	RHO	6010	HP:0000518	Cataract
OMIM:611131	RHO	6010	HP:0000662	Nyctalopia
OMIM:611131	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:611131	CA4	762	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	CA4	762	HP:0000613	Photophobia
OMIM:611131	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:611131	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:611131	CA4	762	HP:0000552	Tritanomaly
OMIM:611131	CA4	762	HP:0000642	Red-green dyschromatopsia
OMIM:611131	CA4	762	HP:0008028	Cystoid macular degeneration
OMIM:611131	CA4	762	HP:0000518	Cataract
OMIM:611131	CA4	762	HP:0000662	Nyctalopia
OMIM:611131	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:611131	CRB1	23418	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	CRB1	23418	HP:0000613	Photophobia
OMIM:611131	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:611131	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:611131	CRB1	23418	HP:0000552	Tritanomaly
OMIM:611131	CRB1	23418	HP:0000642	Red-green dyschromatopsia
OMIM:611131	CRB1	23418	HP:0008028	Cystoid macular degeneration
OMIM:611131	CRB1	23418	HP:0000518	Cataract
OMIM:611131	CRB1	23418	HP:0000662	Nyctalopia
OMIM:611131	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:611131	IMPG2	50939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	IMPG2	50939	HP:0000613	Photophobia
OMIM:611131	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:611131	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:611131	IMPG2	50939	HP:0000552	Tritanomaly
OMIM:611131	IMPG2	50939	HP:0000642	Red-green dyschromatopsia
OMIM:611131	IMPG2	50939	HP:0008028	Cystoid macular degeneration
OMIM:611131	IMPG2	50939	HP:0000518	Cataract
OMIM:611131	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:611131	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:611131	ZNF513	130557	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	ZNF513	130557	HP:0000613	Photophobia
OMIM:611131	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:611131	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:611131	ZNF513	130557	HP:0000552	Tritanomaly
OMIM:611131	ZNF513	130557	HP:0000642	Red-green dyschromatopsia
OMIM:611131	ZNF513	130557	HP:0008028	Cystoid macular degeneration
OMIM:611131	ZNF513	130557	HP:0000518	Cataract
OMIM:611131	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:611131	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:611131	CRX	1406	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:611131	CRX	1406	HP:0000613	Photophobia
OMIM:611131	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:611131	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:611131	CRX	1406	HP:0000552	Tritanomaly
OMIM:611131	CRX	1406	HP:0000642	Red-green dyschromatopsia
OMIM:611131	CRX	1406	HP:0008028	Cystoid macular degeneration
OMIM:611131	CRX	1406	HP:0000518	Cataract
OMIM:611131	CRX	1406	HP:0000662	Nyctalopia
OMIM:114900	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:600309	GJA1	2697	HP:0011705	First degree atrioventricular block
OMIM:600309	GJA1	2697	HP:0001635	Congestive heart failure
OMIM:600309	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:600309	GJA1	2697	HP:0000961	Cyanosis
OMIM:240300	AIRE	326	HP:0000505	Visual impairment
OMIM:240300	AIRE	326	HP:0003621	Juvenile onset
OMIM:240300	AIRE	326	HP:0001053	Hypopigmented skin patches
OMIM:240300	AIRE	326	HP:0000613	Photophobia
OMIM:240300	AIRE	326	HP:0001578	Hypercortisolism
OMIM:240300	AIRE	326	HP:0006297	Hypoplasia of dental enamel
OMIM:240300	AIRE	326	HP:0001045	Vitiligo
OMIM:240300	AIRE	326	HP:0002960	Autoimmunity
OMIM:240300	AIRE	326	HP:0011362	Abnormal hair quantity
OMIM:240300	AIRE	326	HP:0100530	Abnormality of calcium-phosphate metabolism
OMIM:240300	AIRE	326	HP:0000518	Cataract
OMIM:240300	AIRE	326	HP:0001096	Keratoconjunctivitis
OMIM:240300	AIRE	326	HP:0000006	Autosomal dominant inheritance
OMIM:240300	AIRE	326	HP:0000829	Hypoparathyroidism
OMIM:240300	AIRE	326	HP:0007759	Opacification of the corneal stroma
OMIM:240300	AIRE	326	HP:0001596	Alopecia
OMIM:240300	AIRE	326	HP:0008207	Primary adrenal insufficiency
OMIM:240300	AIRE	326	HP:0002014	Diarrhea
OMIM:240300	AIRE	326	HP:0100659	Abnormality of the cerebral vasculature
OMIM:240300	AIRE	326	HP:0002514	Cerebral calcification
OMIM:240300	AIRE	326	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:240300	AIRE	326	HP:0000007	Autosomal recessive inheritance
OMIM:240300	AIRE	326	HP:0001903	Anemia
OMIM:240300	AIRE	326	HP:0002024	Malabsorption
OMIM:240300	AIRE	326	HP:0001231	Abnormality of the fingernails
OMIM:240300	AIRE	326	HP:0001081	Cholelithiasis
OMIM:184095	TRPV4	59341	HP:0002857	Genu valgum
OMIM:184095	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:184095	TRPV4	59341	HP:0000478	Abnormality of the eye
OMIM:184095	TRPV4	59341	HP:0000926	Platyspondyly
OMIM:614946	FARS2	10667	HP:0001336	Myoclonus
OMIM:614946	FARS2	10667	HP:0000007	Autosomal recessive inheritance
OMIM:614946	FARS2	10667	HP:0000252	Microcephaly
OMIM:614946	FARS2	10667	HP:0002151	Increased serum lactate
OMIM:614946	FARS2	10667	HP:0002353	EEG abnormality
OMIM:614946	FARS2	10667	HP:0003355	Aminoaciduria
OMIM:614946	FARS2	10667	HP:0001272	Cerebellar atrophy
OMIM:614946	FARS2	10667	HP:0002171	Gliosis
OMIM:614946	FARS2	10667	HP:0002119	Ventriculomegaly
OMIM:614946	FARS2	10667	HP:0001263	Global developmental delay
OMIM:614946	FARS2	10667	HP:0002059	Cerebral atrophy
OMIM:614946	FARS2	10667	HP:0001873	Thrombocytopenia
OMIM:614946	FARS2	10667	HP:0001510	Growth delay
OMIM:614946	FARS2	10667	HP:0001252	Muscular hypotonia
OMIM:614946	FARS2	10667	HP:0001903	Anemia
OMIM:614946	FARS2	10667	HP:0000505	Visual impairment
OMIM:614946	FARS2	10667	HP:0000365	Hearing impairment
OMIM:614946	FARS2	10667	HP:0001522	Death in infancy
OMIM:614946	FARS2	10667	HP:0001250	Seizures
OMIM:614946	FARS2	10667	HP:0011968	Feeding difficulties
OMIM:614946	FARS2	10667	HP:0003128	Lactic acidosis
OMIM:256800	NTRK1	4914	HP:0002754	Osteomyelitis
OMIM:256800	NTRK1	4914	HP:0003593	Infantile onset
OMIM:256800	NTRK1	4914	HP:0000970	Anhidrosis
OMIM:256800	NTRK1	4914	HP:0007328	Impaired pain sensation
OMIM:256800	NTRK1	4914	HP:0000491	Keratitis
OMIM:256800	NTRK1	4914	HP:0007021	Pain insensitivity
OMIM:256800	NTRK1	4914	HP:0000742	Self-mutilation
OMIM:256800	NTRK1	4914	HP:0001249	Intellectual disability
OMIM:256800	NTRK1	4914	HP:0001263	Global developmental delay
OMIM:256800	NTRK1	4914	HP:0001072	Thickened skin
OMIM:256800	NTRK1	4914	HP:0002164	Nail dysplasia
OMIM:256800	NTRK1	4914	HP:0000712	Emotional lability
OMIM:256800	NTRK1	4914	HP:0000708	Behavioral abnormality
OMIM:256800	NTRK1	4914	HP:0200042	Skin ulcer
OMIM:256800	NTRK1	4914	HP:0007759	Opacification of the corneal stroma
OMIM:256800	NTRK1	4914	HP:0100543	Cognitive impairment
OMIM:256800	NTRK1	4914	HP:0000007	Autosomal recessive inheritance
OMIM:256800	NTRK1	4914	HP:0011001	Increased bone mineral density
OMIM:256800	NTRK1	4914	HP:0008404	Nail dystrophy
OMIM:256800	NTRK1	4914	HP:0000752	Hyperactivity
OMIM:256800	NTRK1	4914	HP:0100679	Lack of skin elasticity
ORPHANET:1040	MMP13	4322	HP:0001376	Limitation of joint mobility
ORPHANET:1040	MMP13	4322	HP:0000944	Abnormality of the metaphyses
ORPHANET:1040	MMP13	4322	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:1040	MMP13	4322	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:1040	MMP13	4322	HP:0002814	Abnormality of the lower limb
ORPHANET:1040	MMP13	4322	HP:0009826	Limb undergrowth
ORPHANET:1040	MMP13	4322	HP:0004322	Short stature
ORPHANET:1040	MMP13	4322	HP:0002997	Abnormality of the ulna
ORPHANET:1040	MMP13	4322	HP:0006487	Bowing of the long bones
ORPHANET:1040	MMP9	4318	HP:0001376	Limitation of joint mobility
ORPHANET:1040	MMP9	4318	HP:0000944	Abnormality of the metaphyses
ORPHANET:1040	MMP9	4318	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:1040	MMP9	4318	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:1040	MMP9	4318	HP:0002814	Abnormality of the lower limb
ORPHANET:1040	MMP9	4318	HP:0009826	Limb undergrowth
ORPHANET:1040	MMP9	4318	HP:0004322	Short stature
ORPHANET:1040	MMP9	4318	HP:0002997	Abnormality of the ulna
ORPHANET:1040	MMP9	4318	HP:0006487	Bowing of the long bones
OMIM:607694	POLR3B	55703	HP:0001332	Dystonia
OMIM:607694	POLR3B	55703	HP:0003487	Babinski sign
OMIM:607694	POLR3B	55703	HP:0002127	Abnormal upper motor neuron morphology
OMIM:607694	POLR3B	55703	HP:0002307	Drooling
OMIM:607694	POLR3B	55703	HP:0002415	Leukodystrophy
OMIM:607694	POLR3B	55703	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:607694	POLR3B	55703	HP:0001260	Dysarthria
OMIM:607694	POLR3B	55703	HP:0002120	Cerebral cortical atrophy
OMIM:607694	POLR3B	55703	HP:0001272	Cerebellar atrophy
OMIM:607694	POLR3B	55703	HP:0002079	Hypoplasia of the corpus callosum
OMIM:607694	POLR3B	55703	HP:0002015	Dysphagia
OMIM:607694	POLR3B	55703	HP:0003429	CNS hypomyelination
OMIM:607694	POLR3B	55703	HP:0001347	Hyperreflexia
OMIM:607694	POLR3B	55703	HP:0003676	Progressive
OMIM:607694	POLR3B	55703	HP:0000545	Myopia
OMIM:607694	POLR3B	55703	HP:0009830	Peripheral neuropathy
OMIM:607694	POLR3B	55703	HP:0001257	Spasticity
OMIM:607694	POLR3B	55703	HP:0000007	Autosomal recessive inheritance
OMIM:607694	POLR3B	55703	HP:0000668	Hypodontia
OMIM:607694	POLR3B	55703	HP:0000648	Optic atrophy
OMIM:607694	POLR3B	55703	HP:0001310	Dysmetria
OMIM:607694	POLR3B	55703	HP:0001263	Global developmental delay
OMIM:607694	POLR3B	55703	HP:0003812	Phenotypic variability
OMIM:607694	POLR3B	55703	HP:0004322	Short stature
OMIM:607694	POLR3B	55703	HP:0000639	Nystagmus
OMIM:607694	POLR3A	11128	HP:0001332	Dystonia
OMIM:607694	POLR3A	11128	HP:0003487	Babinski sign
OMIM:607694	POLR3A	11128	HP:0002127	Abnormal upper motor neuron morphology
OMIM:607694	POLR3A	11128	HP:0002307	Drooling
OMIM:607694	POLR3A	11128	HP:0002415	Leukodystrophy
OMIM:607694	POLR3A	11128	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:607694	POLR3A	11128	HP:0001260	Dysarthria
OMIM:607694	POLR3A	11128	HP:0002120	Cerebral cortical atrophy
OMIM:607694	POLR3A	11128	HP:0001272	Cerebellar atrophy
OMIM:607694	POLR3A	11128	HP:0002079	Hypoplasia of the corpus callosum
OMIM:607694	POLR3A	11128	HP:0002015	Dysphagia
OMIM:607694	POLR3A	11128	HP:0003429	CNS hypomyelination
OMIM:607694	POLR3A	11128	HP:0001347	Hyperreflexia
OMIM:607694	POLR3A	11128	HP:0003676	Progressive
OMIM:607694	POLR3A	11128	HP:0000545	Myopia
OMIM:607694	POLR3A	11128	HP:0009830	Peripheral neuropathy
OMIM:607694	POLR3A	11128	HP:0001257	Spasticity
OMIM:607694	POLR3A	11128	HP:0000007	Autosomal recessive inheritance
OMIM:607694	POLR3A	11128	HP:0000668	Hypodontia
OMIM:607694	POLR3A	11128	HP:0000648	Optic atrophy
OMIM:607694	POLR3A	11128	HP:0001310	Dysmetria
OMIM:607694	POLR3A	11128	HP:0001263	Global developmental delay
OMIM:607694	POLR3A	11128	HP:0003812	Phenotypic variability
OMIM:607694	POLR3A	11128	HP:0004322	Short stature
OMIM:607694	POLR3A	11128	HP:0000639	Nystagmus
OMIM:607694	POLR1C	9533	HP:0001332	Dystonia
OMIM:607694	POLR1C	9533	HP:0003487	Babinski sign
OMIM:607694	POLR1C	9533	HP:0002127	Abnormal upper motor neuron morphology
OMIM:607694	POLR1C	9533	HP:0002307	Drooling
OMIM:607694	POLR1C	9533	HP:0002415	Leukodystrophy
OMIM:607694	POLR1C	9533	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:607694	POLR1C	9533	HP:0001260	Dysarthria
OMIM:607694	POLR1C	9533	HP:0002120	Cerebral cortical atrophy
OMIM:607694	POLR1C	9533	HP:0001272	Cerebellar atrophy
OMIM:607694	POLR1C	9533	HP:0002079	Hypoplasia of the corpus callosum
OMIM:607694	POLR1C	9533	HP:0002015	Dysphagia
OMIM:607694	POLR1C	9533	HP:0003429	CNS hypomyelination
OMIM:607694	POLR1C	9533	HP:0001347	Hyperreflexia
OMIM:607694	POLR1C	9533	HP:0003676	Progressive
OMIM:607694	POLR1C	9533	HP:0000545	Myopia
OMIM:607694	POLR1C	9533	HP:0009830	Peripheral neuropathy
OMIM:607694	POLR1C	9533	HP:0001257	Spasticity
OMIM:607694	POLR1C	9533	HP:0000007	Autosomal recessive inheritance
OMIM:607694	POLR1C	9533	HP:0000668	Hypodontia
OMIM:607694	POLR1C	9533	HP:0000648	Optic atrophy
OMIM:607694	POLR1C	9533	HP:0001310	Dysmetria
OMIM:607694	POLR1C	9533	HP:0001263	Global developmental delay
OMIM:607694	POLR1C	9533	HP:0003812	Phenotypic variability
OMIM:607694	POLR1C	9533	HP:0004322	Short stature
OMIM:607694	POLR1C	9533	HP:0000639	Nystagmus
OMIM:201475	ACADVL	37	HP:0000007	Autosomal recessive inheritance
OMIM:201475	ACADVL	37	HP:0008305	Exercise-induced myoglobinuria
OMIM:201475	ACADVL	37	HP:0001639	Hypertrophic cardiomyopathy
OMIM:201475	ACADVL	37	HP:0001404	Hepatocellular necrosis
OMIM:201475	ACADVL	37	HP:0001324	Muscle weakness
OMIM:201475	ACADVL	37	HP:0001254	Lethargy
OMIM:201475	ACADVL	37	HP:0002789	Tachypnea
OMIM:201475	ACADVL	37	HP:0002240	Hepatomegaly
OMIM:201475	ACADVL	37	HP:0002013	Vomiting
OMIM:201475	ACADVL	37	HP:0001397	Hepatic steatosis
OMIM:201475	ACADVL	37	HP:0003215	Dicarboxylic aciduria
OMIM:201475	ACADVL	37	HP:0001252	Muscular hypotonia
OMIM:201475	ACADVL	37	HP:0001645	Sudden cardiac death
OMIM:201475	ACADVL	37	HP:0003236	Elevated serum creatine phosphokinase
OMIM:222800	BPGM	669	HP:0001744	Splenomegaly
OMIM:222800	BPGM	669	HP:0000007	Autosomal recessive inheritance
OMIM:222800	BPGM	669	HP:0001082	Cholecystitis
OMIM:222800	BPGM	669	HP:0001081	Cholelithiasis
OMIM:222800	BPGM	669	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:222800	BPGM	669	HP:0000952	Jaundice
OMIM:261630	QDPR	5860	HP:0003593	Infantile onset
OMIM:261630	QDPR	5860	HP:0100543	Cognitive impairment
OMIM:261630	QDPR	5860	HP:0003781	Excessive salivation
OMIM:261630	QDPR	5860	HP:0002514	Cerebral calcification
OMIM:261630	QDPR	5860	HP:0002015	Dysphagia
OMIM:261630	QDPR	5860	HP:0001263	Global developmental delay
OMIM:261630	QDPR	5860	HP:0001252	Muscular hypotonia
OMIM:261630	QDPR	5860	HP:0001250	Seizures
OMIM:261630	QDPR	5860	HP:0001266	Choreoathetosis
OMIM:261630	QDPR	5860	HP:0001276	Hypertonia
OMIM:261630	QDPR	5860	HP:0000737	Irritability
OMIM:261630	QDPR	5860	HP:0002344	Progressive neurologic deterioration
OMIM:261630	QDPR	5860	HP:0000252	Microcephaly
OMIM:261630	QDPR	5860	HP:0001332	Dystonia
OMIM:261630	QDPR	5860	HP:0001249	Intellectual disability
OMIM:261630	QDPR	5860	HP:0001336	Myoclonus
OMIM:261630	QDPR	5860	HP:0000007	Autosomal recessive inheritance
OMIM:261630	QDPR	5860	HP:0003828	Variable expressivity
OMIM:261630	QDPR	5860	HP:0001337	Tremor
OMIM:613312	DMP1	1758	HP:0000007	Autosomal recessive inheritance
OMIM:613312	ENPP1	5167	HP:0000007	Autosomal recessive inheritance
OMIM:614082	FANCC	2176	HP:0001875	Neutropenia
OMIM:614082	FANCC	2176	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCC	2176	HP:0001903	Anemia
OMIM:614082	FANCC	2176	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCC	2176	HP:0001909	Leukemia
OMIM:614082	FANCC	2176	HP:0000568	Microphthalmia
OMIM:614082	FANCC	2176	HP:0002863	Myelodysplasia
OMIM:614082	FANCC	2176	HP:0000252	Microcephaly
OMIM:614082	FANCC	2176	HP:0001873	Thrombocytopenia
OMIM:614082	FANCC	2176	HP:0001510	Growth delay
OMIM:614082	FANCC	2176	HP:0003220	Abnormality of chromosome stability
OMIM:614082	FANCD2	2177	HP:0001875	Neutropenia
OMIM:614082	FANCD2	2177	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCD2	2177	HP:0001903	Anemia
OMIM:614082	FANCD2	2177	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCD2	2177	HP:0001909	Leukemia
OMIM:614082	FANCD2	2177	HP:0000568	Microphthalmia
OMIM:614082	FANCD2	2177	HP:0002863	Myelodysplasia
OMIM:614082	FANCD2	2177	HP:0000252	Microcephaly
OMIM:614082	FANCD2	2177	HP:0001873	Thrombocytopenia
OMIM:614082	FANCD2	2177	HP:0001510	Growth delay
OMIM:614082	FANCD2	2177	HP:0003220	Abnormality of chromosome stability
OMIM:614082	FANCM	57697	HP:0001875	Neutropenia
OMIM:614082	FANCM	57697	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCM	57697	HP:0001903	Anemia
OMIM:614082	FANCM	57697	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCM	57697	HP:0001909	Leukemia
OMIM:614082	FANCM	57697	HP:0000568	Microphthalmia
OMIM:614082	FANCM	57697	HP:0002863	Myelodysplasia
OMIM:614082	FANCM	57697	HP:0000252	Microcephaly
OMIM:614082	FANCM	57697	HP:0001873	Thrombocytopenia
OMIM:614082	FANCM	57697	HP:0001510	Growth delay
OMIM:614082	FANCM	57697	HP:0003220	Abnormality of chromosome stability
OMIM:614082	RAD51C	5889	HP:0001875	Neutropenia
OMIM:614082	RAD51C	5889	HP:0001172	Abnormality of the thumb
OMIM:614082	RAD51C	5889	HP:0001903	Anemia
OMIM:614082	RAD51C	5889	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	RAD51C	5889	HP:0001909	Leukemia
OMIM:614082	RAD51C	5889	HP:0000568	Microphthalmia
OMIM:614082	RAD51C	5889	HP:0002863	Myelodysplasia
OMIM:614082	RAD51C	5889	HP:0000252	Microcephaly
OMIM:614082	RAD51C	5889	HP:0001873	Thrombocytopenia
OMIM:614082	RAD51C	5889	HP:0001510	Growth delay
OMIM:614082	RAD51C	5889	HP:0003220	Abnormality of chromosome stability
OMIM:614082	UBE2T	29089	HP:0001875	Neutropenia
OMIM:614082	UBE2T	29089	HP:0001172	Abnormality of the thumb
OMIM:614082	UBE2T	29089	HP:0001903	Anemia
OMIM:614082	UBE2T	29089	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	UBE2T	29089	HP:0001909	Leukemia
OMIM:614082	UBE2T	29089	HP:0000568	Microphthalmia
OMIM:614082	UBE2T	29089	HP:0002863	Myelodysplasia
OMIM:614082	UBE2T	29089	HP:0000252	Microcephaly
OMIM:614082	UBE2T	29089	HP:0001873	Thrombocytopenia
OMIM:614082	UBE2T	29089	HP:0001510	Growth delay
OMIM:614082	UBE2T	29089	HP:0003220	Abnormality of chromosome stability
OMIM:614082	FANCE	2178	HP:0001875	Neutropenia
OMIM:614082	FANCE	2178	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCE	2178	HP:0001903	Anemia
OMIM:614082	FANCE	2178	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCE	2178	HP:0001909	Leukemia
OMIM:614082	FANCE	2178	HP:0000568	Microphthalmia
OMIM:614082	FANCE	2178	HP:0002863	Myelodysplasia
OMIM:614082	FANCE	2178	HP:0000252	Microcephaly
OMIM:614082	FANCE	2178	HP:0001873	Thrombocytopenia
OMIM:614082	FANCE	2178	HP:0001510	Growth delay
OMIM:614082	FANCE	2178	HP:0003220	Abnormality of chromosome stability
OMIM:614082	BRCA2	675	HP:0001875	Neutropenia
OMIM:614082	BRCA2	675	HP:0001172	Abnormality of the thumb
OMIM:614082	BRCA2	675	HP:0001903	Anemia
OMIM:614082	BRCA2	675	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	BRCA2	675	HP:0001909	Leukemia
OMIM:614082	BRCA2	675	HP:0000568	Microphthalmia
OMIM:614082	BRCA2	675	HP:0002863	Myelodysplasia
OMIM:614082	BRCA2	675	HP:0000252	Microcephaly
OMIM:614082	BRCA2	675	HP:0001873	Thrombocytopenia
OMIM:614082	BRCA2	675	HP:0001510	Growth delay
OMIM:614082	BRCA2	675	HP:0003220	Abnormality of chromosome stability
OMIM:614082	FANCB	2187	HP:0001875	Neutropenia
OMIM:614082	FANCB	2187	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCB	2187	HP:0001903	Anemia
OMIM:614082	FANCB	2187	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCB	2187	HP:0001909	Leukemia
OMIM:614082	FANCB	2187	HP:0000568	Microphthalmia
OMIM:614082	FANCB	2187	HP:0002863	Myelodysplasia
OMIM:614082	FANCB	2187	HP:0000252	Microcephaly
OMIM:614082	FANCB	2187	HP:0001873	Thrombocytopenia
OMIM:614082	FANCB	2187	HP:0001510	Growth delay
OMIM:614082	FANCB	2187	HP:0003220	Abnormality of chromosome stability
OMIM:614082	FANCF	2188	HP:0001875	Neutropenia
OMIM:614082	FANCF	2188	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCF	2188	HP:0001903	Anemia
OMIM:614082	FANCF	2188	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCF	2188	HP:0001909	Leukemia
OMIM:614082	FANCF	2188	HP:0000568	Microphthalmia
OMIM:614082	FANCF	2188	HP:0002863	Myelodysplasia
OMIM:614082	FANCF	2188	HP:0000252	Microcephaly
OMIM:614082	FANCF	2188	HP:0001873	Thrombocytopenia
OMIM:614082	FANCF	2188	HP:0001510	Growth delay
OMIM:614082	FANCF	2188	HP:0003220	Abnormality of chromosome stability
OMIM:614082	FANCG	2189	HP:0001875	Neutropenia
OMIM:614082	FANCG	2189	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCG	2189	HP:0001903	Anemia
OMIM:614082	FANCG	2189	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCG	2189	HP:0001909	Leukemia
OMIM:614082	FANCG	2189	HP:0000568	Microphthalmia
OMIM:614082	FANCG	2189	HP:0002863	Myelodysplasia
OMIM:614082	FANCG	2189	HP:0000252	Microcephaly
OMIM:614082	FANCG	2189	HP:0001873	Thrombocytopenia
OMIM:614082	FANCG	2189	HP:0001510	Growth delay
OMIM:614082	FANCG	2189	HP:0003220	Abnormality of chromosome stability
OMIM:614082	FANCI	55215	HP:0001875	Neutropenia
OMIM:614082	FANCI	55215	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCI	55215	HP:0001903	Anemia
OMIM:614082	FANCI	55215	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCI	55215	HP:0001909	Leukemia
OMIM:614082	FANCI	55215	HP:0000568	Microphthalmia
OMIM:614082	FANCI	55215	HP:0002863	Myelodysplasia
OMIM:614082	FANCI	55215	HP:0000252	Microcephaly
OMIM:614082	FANCI	55215	HP:0001873	Thrombocytopenia
OMIM:614082	FANCI	55215	HP:0001510	Growth delay
OMIM:614082	FANCI	55215	HP:0003220	Abnormality of chromosome stability
OMIM:614082	FANCL	55120	HP:0001875	Neutropenia
OMIM:614082	FANCL	55120	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCL	55120	HP:0001903	Anemia
OMIM:614082	FANCL	55120	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCL	55120	HP:0001909	Leukemia
OMIM:614082	FANCL	55120	HP:0000568	Microphthalmia
OMIM:614082	FANCL	55120	HP:0002863	Myelodysplasia
OMIM:614082	FANCL	55120	HP:0000252	Microcephaly
OMIM:614082	FANCL	55120	HP:0001873	Thrombocytopenia
OMIM:614082	FANCL	55120	HP:0001510	Growth delay
OMIM:614082	FANCL	55120	HP:0003220	Abnormality of chromosome stability
OMIM:614082	PALB2	79728	HP:0001875	Neutropenia
OMIM:614082	PALB2	79728	HP:0001172	Abnormality of the thumb
OMIM:614082	PALB2	79728	HP:0001903	Anemia
OMIM:614082	PALB2	79728	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	PALB2	79728	HP:0001909	Leukemia
OMIM:614082	PALB2	79728	HP:0000568	Microphthalmia
OMIM:614082	PALB2	79728	HP:0002863	Myelodysplasia
OMIM:614082	PALB2	79728	HP:0000252	Microcephaly
OMIM:614082	PALB2	79728	HP:0001873	Thrombocytopenia
OMIM:614082	PALB2	79728	HP:0001510	Growth delay
OMIM:614082	PALB2	79728	HP:0003220	Abnormality of chromosome stability
OMIM:614082	SLX4	84464	HP:0001875	Neutropenia
OMIM:614082	SLX4	84464	HP:0001172	Abnormality of the thumb
OMIM:614082	SLX4	84464	HP:0001903	Anemia
OMIM:614082	SLX4	84464	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	SLX4	84464	HP:0001909	Leukemia
OMIM:614082	SLX4	84464	HP:0000568	Microphthalmia
OMIM:614082	SLX4	84464	HP:0002863	Myelodysplasia
OMIM:614082	SLX4	84464	HP:0000252	Microcephaly
OMIM:614082	SLX4	84464	HP:0001873	Thrombocytopenia
OMIM:614082	SLX4	84464	HP:0001510	Growth delay
OMIM:614082	SLX4	84464	HP:0003220	Abnormality of chromosome stability
OMIM:614082	BRIP1	83990	HP:0001875	Neutropenia
OMIM:614082	BRIP1	83990	HP:0001172	Abnormality of the thumb
OMIM:614082	BRIP1	83990	HP:0001903	Anemia
OMIM:614082	BRIP1	83990	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	BRIP1	83990	HP:0001909	Leukemia
OMIM:614082	BRIP1	83990	HP:0000568	Microphthalmia
OMIM:614082	BRIP1	83990	HP:0002863	Myelodysplasia
OMIM:614082	BRIP1	83990	HP:0000252	Microcephaly
OMIM:614082	BRIP1	83990	HP:0001873	Thrombocytopenia
OMIM:614082	BRIP1	83990	HP:0001510	Growth delay
OMIM:614082	BRIP1	83990	HP:0003220	Abnormality of chromosome stability
OMIM:614082	ERCC4	2072	HP:0001875	Neutropenia
OMIM:614082	ERCC4	2072	HP:0001172	Abnormality of the thumb
OMIM:614082	ERCC4	2072	HP:0001903	Anemia
OMIM:614082	ERCC4	2072	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	ERCC4	2072	HP:0001909	Leukemia
OMIM:614082	ERCC4	2072	HP:0000568	Microphthalmia
OMIM:614082	ERCC4	2072	HP:0002863	Myelodysplasia
OMIM:614082	ERCC4	2072	HP:0000252	Microcephaly
OMIM:614082	ERCC4	2072	HP:0001873	Thrombocytopenia
OMIM:614082	ERCC4	2072	HP:0001510	Growth delay
OMIM:614082	ERCC4	2072	HP:0003220	Abnormality of chromosome stability
OMIM:614082	FANCA	2175	HP:0001875	Neutropenia
OMIM:614082	FANCA	2175	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCA	2175	HP:0001903	Anemia
OMIM:614082	FANCA	2175	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCA	2175	HP:0001909	Leukemia
OMIM:614082	FANCA	2175	HP:0000568	Microphthalmia
OMIM:614082	FANCA	2175	HP:0002863	Myelodysplasia
OMIM:614082	FANCA	2175	HP:0000252	Microcephaly
OMIM:614082	FANCA	2175	HP:0001873	Thrombocytopenia
OMIM:614082	FANCA	2175	HP:0001510	Growth delay
OMIM:614082	FANCA	2175	HP:0003220	Abnormality of chromosome stability
OMIM:613116	HRG	3273	HP:0000006	Autosomal dominant inheritance
OMIM:613116	HRG	3273	HP:0001977	Abnormal thrombosis
OMIM:603218	PRNP	5621	HP:0000746	Delusions
OMIM:603218	PRNP	5621	HP:0000726	Dementia
OMIM:603218	PRNP	5621	HP:0002063	Rigidity
OMIM:603218	PRNP	5621	HP:0006999	Basal ganglia gliosis
OMIM:603218	PRNP	5621	HP:0001310	Dysmetria
OMIM:603218	PRNP	5621	HP:0000711	Restlessness
OMIM:603218	PRNP	5621	HP:0002317	Unsteady gait
OMIM:603218	PRNP	5621	HP:0001260	Dysarthria
OMIM:603218	PRNP	5621	HP:0000006	Autosomal dominant inheritance
OMIM:603218	PRNP	5621	HP:0000739	Anxiety
OMIM:603218	PRNP	5621	HP:0000718	Aggressive behavior
OMIM:603218	PRNP	5621	HP:0002311	Incoordination
OMIM:603218	PRNP	5621	HP:0000716	Depression
OMIM:603218	PRNP	5621	HP:0002072	Chorea
OMIM:613869	CRYAB	1410	HP:0000007	Autosomal recessive inheritance
OMIM:613869	CRYAB	1410	HP:0002104	Apnea
OMIM:613869	CRYAB	1410	HP:0001371	Flexion contracture
OMIM:613869	CRYAB	1410	HP:0003560	Muscular dystrophy
OMIM:613869	CRYAB	1410	HP:0002063	Rigidity
OMIM:613869	CRYAB	1410	HP:0003678	Rapidly progressive
OMIM:613869	CRYAB	1410	HP:0002878	Respiratory failure
OMIM:613869	CRYAB	1410	HP:0003236	Elevated serum creatine phosphokinase
OMIM:133701	EXT1	2131	HP:0003621	Juvenile onset
OMIM:133701	EXT1	2131	HP:0000006	Autosomal dominant inheritance
OMIM:133701	EXT1	2131	HP:0002857	Genu valgum
OMIM:133701	EXT1	2131	HP:0002812	Coxa vara
OMIM:133701	EXT1	2131	HP:0010049	Short metacarpal
OMIM:133701	EXT1	2131	HP:0004322	Short stature
OMIM:133701	EXT2	2132	HP:0003621	Juvenile onset
OMIM:133701	EXT2	2132	HP:0000006	Autosomal dominant inheritance
OMIM:133701	EXT2	2132	HP:0002857	Genu valgum
OMIM:133701	EXT2	2132	HP:0002812	Coxa vara
OMIM:133701	EXT2	2132	HP:0010049	Short metacarpal
OMIM:133701	EXT2	2132	HP:0004322	Short stature
OMIM:608553	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:608553	NMNAT1	64802	HP:0000543	Optic disc pallor
OMIM:608553	NMNAT1	64802	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	NMNAT1	64802	HP:0000662	Nyctalopia
OMIM:608553	NMNAT1	64802	HP:0000540	Hypermetropia
OMIM:608553	NMNAT1	64802	HP:0000639	Nystagmus
OMIM:608553	NMNAT1	64802	HP:0000613	Photophobia
OMIM:608553	NMNAT1	64802	HP:0000648	Optic atrophy
OMIM:608553	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:608553	AIPL1	23746	HP:0000543	Optic disc pallor
OMIM:608553	AIPL1	23746	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:608553	AIPL1	23746	HP:0000540	Hypermetropia
OMIM:608553	AIPL1	23746	HP:0000639	Nystagmus
OMIM:608553	AIPL1	23746	HP:0000613	Photophobia
OMIM:608553	AIPL1	23746	HP:0000648	Optic atrophy
OMIM:608553	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:608553	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:608553	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:608553	SPATA7	55812	HP:0000540	Hypermetropia
OMIM:608553	SPATA7	55812	HP:0000639	Nystagmus
OMIM:608553	SPATA7	55812	HP:0000613	Photophobia
OMIM:608553	SPATA7	55812	HP:0000648	Optic atrophy
OMIM:608553	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:608553	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:608553	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	RDH12	145226	HP:0000662	Nyctalopia
OMIM:608553	RDH12	145226	HP:0000540	Hypermetropia
OMIM:608553	RDH12	145226	HP:0000639	Nystagmus
OMIM:608553	RDH12	145226	HP:0000613	Photophobia
OMIM:608553	RDH12	145226	HP:0000648	Optic atrophy
OMIM:608553	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:608553	RPGRIP1	57096	HP:0000543	Optic disc pallor
OMIM:608553	RPGRIP1	57096	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	RPGRIP1	57096	HP:0000662	Nyctalopia
OMIM:608553	RPGRIP1	57096	HP:0000540	Hypermetropia
OMIM:608553	RPGRIP1	57096	HP:0000639	Nystagmus
OMIM:608553	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:608553	RPGRIP1	57096	HP:0000648	Optic atrophy
OMIM:608553	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:608553	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:608553	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	RPE65	6121	HP:0000662	Nyctalopia
OMIM:608553	RPE65	6121	HP:0000540	Hypermetropia
OMIM:608553	RPE65	6121	HP:0000639	Nystagmus
OMIM:608553	RPE65	6121	HP:0000613	Photophobia
OMIM:608553	RPE65	6121	HP:0000648	Optic atrophy
OMIM:608553	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:608553	LCA5	167691	HP:0000543	Optic disc pallor
OMIM:608553	LCA5	167691	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	LCA5	167691	HP:0000662	Nyctalopia
OMIM:608553	LCA5	167691	HP:0000540	Hypermetropia
OMIM:608553	LCA5	167691	HP:0000639	Nystagmus
OMIM:608553	LCA5	167691	HP:0000613	Photophobia
OMIM:608553	LCA5	167691	HP:0000648	Optic atrophy
OMIM:608553	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:608553	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:608553	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	LRAT	9227	HP:0000662	Nyctalopia
OMIM:608553	LRAT	9227	HP:0000540	Hypermetropia
OMIM:608553	LRAT	9227	HP:0000639	Nystagmus
OMIM:608553	LRAT	9227	HP:0000613	Photophobia
OMIM:608553	LRAT	9227	HP:0000648	Optic atrophy
OMIM:608553	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:608553	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:608553	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	IFT140	9742	HP:0000662	Nyctalopia
OMIM:608553	IFT140	9742	HP:0000540	Hypermetropia
OMIM:608553	IFT140	9742	HP:0000639	Nystagmus
OMIM:608553	IFT140	9742	HP:0000613	Photophobia
OMIM:608553	IFT140	9742	HP:0000648	Optic atrophy
OMIM:608553	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:608553	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:608553	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	TULP1	7287	HP:0000662	Nyctalopia
OMIM:608553	TULP1	7287	HP:0000540	Hypermetropia
OMIM:608553	TULP1	7287	HP:0000639	Nystagmus
OMIM:608553	TULP1	7287	HP:0000613	Photophobia
OMIM:608553	TULP1	7287	HP:0000648	Optic atrophy
OMIM:608553	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:608553	GUCY2D	3000	HP:0000543	Optic disc pallor
OMIM:608553	GUCY2D	3000	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	GUCY2D	3000	HP:0000662	Nyctalopia
OMIM:608553	GUCY2D	3000	HP:0000540	Hypermetropia
OMIM:608553	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:608553	GUCY2D	3000	HP:0000613	Photophobia
OMIM:608553	GUCY2D	3000	HP:0000648	Optic atrophy
OMIM:608553	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:608553	CEP290	80184	HP:0000543	Optic disc pallor
OMIM:608553	CEP290	80184	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	CEP290	80184	HP:0000662	Nyctalopia
OMIM:608553	CEP290	80184	HP:0000540	Hypermetropia
OMIM:608553	CEP290	80184	HP:0000639	Nystagmus
OMIM:608553	CEP290	80184	HP:0000613	Photophobia
OMIM:608553	CEP290	80184	HP:0000648	Optic atrophy
OMIM:608553	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:608553	IQCB1	9657	HP:0000543	Optic disc pallor
OMIM:608553	IQCB1	9657	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	IQCB1	9657	HP:0000662	Nyctalopia
OMIM:608553	IQCB1	9657	HP:0000540	Hypermetropia
OMIM:608553	IQCB1	9657	HP:0000639	Nystagmus
OMIM:608553	IQCB1	9657	HP:0000613	Photophobia
OMIM:608553	IQCB1	9657	HP:0000648	Optic atrophy
OMIM:608553	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:608553	KCNJ13	3769	HP:0000543	Optic disc pallor
OMIM:608553	KCNJ13	3769	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	KCNJ13	3769	HP:0000662	Nyctalopia
OMIM:608553	KCNJ13	3769	HP:0000540	Hypermetropia
OMIM:608553	KCNJ13	3769	HP:0000639	Nystagmus
OMIM:608553	KCNJ13	3769	HP:0000613	Photophobia
OMIM:608553	KCNJ13	3769	HP:0000648	Optic atrophy
OMIM:608553	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:608553	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:608553	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	CRB1	23418	HP:0000662	Nyctalopia
OMIM:608553	CRB1	23418	HP:0000540	Hypermetropia
OMIM:608553	CRB1	23418	HP:0000639	Nystagmus
OMIM:608553	CRB1	23418	HP:0000613	Photophobia
OMIM:608553	CRB1	23418	HP:0000648	Optic atrophy
OMIM:608553	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:608553	GDF6	392255	HP:0000543	Optic disc pallor
OMIM:608553	GDF6	392255	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	GDF6	392255	HP:0000662	Nyctalopia
OMIM:608553	GDF6	392255	HP:0000540	Hypermetropia
OMIM:608553	GDF6	392255	HP:0000639	Nystagmus
OMIM:608553	GDF6	392255	HP:0000613	Photophobia
OMIM:608553	GDF6	392255	HP:0000648	Optic atrophy
OMIM:608553	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:608553	RD3	343035	HP:0000543	Optic disc pallor
OMIM:608553	RD3	343035	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	RD3	343035	HP:0000662	Nyctalopia
OMIM:608553	RD3	343035	HP:0000540	Hypermetropia
OMIM:608553	RD3	343035	HP:0000639	Nystagmus
OMIM:608553	RD3	343035	HP:0000613	Photophobia
OMIM:608553	RD3	343035	HP:0000648	Optic atrophy
OMIM:608553	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:608553	CRX	1406	HP:0000543	Optic disc pallor
OMIM:608553	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	CRX	1406	HP:0000662	Nyctalopia
OMIM:608553	CRX	1406	HP:0000540	Hypermetropia
OMIM:608553	CRX	1406	HP:0000639	Nystagmus
OMIM:608553	CRX	1406	HP:0000613	Photophobia
OMIM:608553	CRX	1406	HP:0000648	Optic atrophy
OMIM:608553	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:608553	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:608553	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:608553	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:608553	IMPDH1	3614	HP:0000540	Hypermetropia
OMIM:608553	IMPDH1	3614	HP:0000639	Nystagmus
OMIM:608553	IMPDH1	3614	HP:0000613	Photophobia
OMIM:608553	IMPDH1	3614	HP:0000648	Optic atrophy
OMIM:137600	FOXC1	2296	HP:0000501	Glaucoma
OMIM:137600	FOXC1	2296	HP:0007730	Iris hypopigmentation
OMIM:137600	FOXC1	2296	HP:0001999	Abnormal facial shape
OMIM:137600	FOXC1	2296	HP:0000164	Abnormality of the teeth
OMIM:137600	FOXC1	2296	HP:0000006	Autosomal dominant inheritance
OMIM:137600	PITX2	5308	HP:0000501	Glaucoma
OMIM:137600	PITX2	5308	HP:0007730	Iris hypopigmentation
OMIM:137600	PITX2	5308	HP:0001999	Abnormal facial shape
OMIM:137600	PITX2	5308	HP:0000164	Abnormality of the teeth
OMIM:137600	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:614379	C4A	720	HP:0001287	Meningitis
OMIM:614379	C4B	721	HP:0001287	Meningitis
OMIM:614379	SERPING1	710	HP:0001287	Meningitis
OMIM:614379	C1QA	712	HP:0001287	Meningitis
OMIM:614379	C1QB	713	HP:0001287	Meningitis
OMIM:614379	C1QC	714	HP:0001287	Meningitis
OMIM:614379	C1R	715	HP:0001287	Meningitis
OMIM:614379	C1S	716	HP:0001287	Meningitis
OMIM:614379	C2	717	HP:0001287	Meningitis
OMIM:611884	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
OMIM:611884	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:611884	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:611884	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:611884	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:611884	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:611884	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:611884	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
OMIM:611884	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:611884	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:611884	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:611884	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:611884	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:611884	DNAI1	27019	HP:0002205	Recurrent respiratory infections
OMIM:611884	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:611884	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:611884	DRC1	92749	HP:0002205	Recurrent respiratory infections
OMIM:611884	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:611884	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:611884	SPAG1	6674	HP:0002205	Recurrent respiratory infections
OMIM:611884	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:611884	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:611884	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:611884	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:611884	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:611884	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:611884	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:611884	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:611884	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:611884	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:611884	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:611884	LRRC6	23639	HP:0002205	Recurrent respiratory infections
OMIM:611884	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:611884	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:611884	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:611884	DNAL1	83544	HP:0002205	Recurrent respiratory infections
OMIM:611884	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:611884	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:611884	ARMC4	55130	HP:0002205	Recurrent respiratory infections
OMIM:611884	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:611884	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:611884	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:611884	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:611884	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:611884	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:611884	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:611884	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:611884	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:611884	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:611884	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:611884	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
OMIM:611884	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:611884	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:611884	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
OMIM:611884	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:611884	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:611884	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:611884	RSPH1	89765	HP:0002205	Recurrent respiratory infections
OMIM:611884	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:611884	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:611884	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:611884	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
OMIM:611884	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:611884	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:611884	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:611884	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:611884	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:611884	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:611884	CCDC65	85478	HP:0002205	Recurrent respiratory infections
OMIM:611884	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:611884	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:611884	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:611884	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
OMIM:611884	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:611884	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:611884	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:611884	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
OMIM:611884	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:611884	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:611884	CCDC151	115948	HP:0002205	Recurrent respiratory infections
OMIM:611884	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:611884	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:611884	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:611884	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:611884	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:611884	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:611884	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:611884	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:611884	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:611884	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:611884	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:611884	HYDIN	54768	HP:0002205	Recurrent respiratory infections
OMIM:611884	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:611884	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:611884	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:611884	CCDC114	93233	HP:0002205	Recurrent respiratory infections
OMIM:611884	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:611884	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:611884	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:611884	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:611884	NME8	51314	HP:0002110	Bronchiectasis
OMIM:611884	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:611884	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:611884	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:611884	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:611884	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:611884	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:611884	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:611884	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:611884	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:611884	DNAI2	64446	HP:0002205	Recurrent respiratory infections
OMIM:611884	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:611884	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:611884	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:611884	GAS8	2622	HP:0002205	Recurrent respiratory infections
OMIM:611884	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:611884	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:611884	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:263000	SFTPC	6440	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:263000	SFTPC	6440	HP:0002788	Recurrent upper respiratory tract infections
OMIM:263000	SFTPC	6440	HP:0002878	Respiratory failure
OMIM:263000	SFTPC	6440	HP:0002789	Tachypnea
OMIM:263000	SFTPC	6440	HP:0001508	Failure to thrive
OMIM:263000	SFTPC	6440	HP:0002098	Respiratory distress
OMIM:263000	SFTPC	6440	HP:0000007	Autosomal recessive inheritance
OMIM:263000	SFTPC	6440	HP:0000961	Cyanosis
OMIM:614858	PROK2	60675	HP:0000458	Anosmia
OMIM:614858	PROK2	60675	HP:0008734	Decreased testicular size
OMIM:614858	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:614858	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:614858	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:614858	PROKR2	128674	HP:0000458	Anosmia
OMIM:614858	PROKR2	128674	HP:0008734	Decreased testicular size
OMIM:614858	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:614858	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:614858	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:614858	SEMA3A	10371	HP:0000458	Anosmia
OMIM:614858	SEMA3A	10371	HP:0008734	Decreased testicular size
OMIM:614858	SEMA3A	10371	HP:0000006	Autosomal dominant inheritance
OMIM:614858	SEMA3A	10371	HP:0000028	Cryptorchidism
OMIM:614858	SEMA3A	10371	HP:0000786	Primary amenorrhea
OMIM:614858	IL17RD	54756	HP:0000458	Anosmia
OMIM:614858	IL17RD	54756	HP:0008734	Decreased testicular size
OMIM:614858	IL17RD	54756	HP:0000006	Autosomal dominant inheritance
OMIM:614858	IL17RD	54756	HP:0000028	Cryptorchidism
OMIM:614858	IL17RD	54756	HP:0000786	Primary amenorrhea
OMIM:614858	WDR11	55717	HP:0000458	Anosmia
OMIM:614858	WDR11	55717	HP:0008734	Decreased testicular size
OMIM:614858	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:614858	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:614858	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:614858	KISS1	3814	HP:0000458	Anosmia
OMIM:614858	KISS1	3814	HP:0008734	Decreased testicular size
OMIM:614858	KISS1	3814	HP:0000006	Autosomal dominant inheritance
OMIM:614858	KISS1	3814	HP:0000028	Cryptorchidism
OMIM:614858	KISS1	3814	HP:0000786	Primary amenorrhea
OMIM:614858	SOX10	6663	HP:0000458	Anosmia
OMIM:614858	SOX10	6663	HP:0008734	Decreased testicular size
OMIM:614858	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:614858	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:614858	SOX10	6663	HP:0000786	Primary amenorrhea
OMIM:614858	FEZF1	389549	HP:0000458	Anosmia
OMIM:614858	FEZF1	389549	HP:0008734	Decreased testicular size
OMIM:614858	FEZF1	389549	HP:0000006	Autosomal dominant inheritance
OMIM:614858	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:614858	FEZF1	389549	HP:0000786	Primary amenorrhea
OMIM:614858	GNRH1	2796	HP:0000458	Anosmia
OMIM:614858	GNRH1	2796	HP:0008734	Decreased testicular size
OMIM:614858	GNRH1	2796	HP:0000006	Autosomal dominant inheritance
OMIM:614858	GNRH1	2796	HP:0000028	Cryptorchidism
OMIM:614858	GNRH1	2796	HP:0000786	Primary amenorrhea
OMIM:614858	FGF8	2253	HP:0000458	Anosmia
OMIM:614858	FGF8	2253	HP:0008734	Decreased testicular size
OMIM:614858	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:614858	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:614858	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:614858	GNRHR	2798	HP:0000458	Anosmia
OMIM:614858	GNRHR	2798	HP:0008734	Decreased testicular size
OMIM:614858	GNRHR	2798	HP:0000006	Autosomal dominant inheritance
OMIM:614858	GNRHR	2798	HP:0000028	Cryptorchidism
OMIM:614858	GNRHR	2798	HP:0000786	Primary amenorrhea
OMIM:614858	ANOS1	3730	HP:0000458	Anosmia
OMIM:614858	ANOS1	3730	HP:0008734	Decreased testicular size
OMIM:614858	ANOS1	3730	HP:0000006	Autosomal dominant inheritance
OMIM:614858	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:614858	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:614858	TAC3	6866	HP:0000458	Anosmia
OMIM:614858	TAC3	6866	HP:0008734	Decreased testicular size
OMIM:614858	TAC3	6866	HP:0000006	Autosomal dominant inheritance
OMIM:614858	TAC3	6866	HP:0000028	Cryptorchidism
OMIM:614858	TAC3	6866	HP:0000786	Primary amenorrhea
OMIM:614858	HS6ST1	9394	HP:0000458	Anosmia
OMIM:614858	HS6ST1	9394	HP:0008734	Decreased testicular size
OMIM:614858	HS6ST1	9394	HP:0000006	Autosomal dominant inheritance
OMIM:614858	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:614858	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:614858	CHD7	55636	HP:0000458	Anosmia
OMIM:614858	CHD7	55636	HP:0008734	Decreased testicular size
OMIM:614858	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:614858	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:614858	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:614858	FGFR1	2260	HP:0000458	Anosmia
OMIM:614858	FGFR1	2260	HP:0008734	Decreased testicular size
OMIM:614858	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:614858	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:614858	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:614858	HESX1	8820	HP:0000458	Anosmia
OMIM:614858	HESX1	8820	HP:0008734	Decreased testicular size
OMIM:614858	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:614858	HESX1	8820	HP:0000028	Cryptorchidism
OMIM:614858	HESX1	8820	HP:0000786	Primary amenorrhea
OMIM:614858	TACR3	6870	HP:0000458	Anosmia
OMIM:614858	TACR3	6870	HP:0008734	Decreased testicular size
OMIM:614858	TACR3	6870	HP:0000006	Autosomal dominant inheritance
OMIM:614858	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:614858	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:614858	FGF17	8822	HP:0000458	Anosmia
OMIM:614858	FGF17	8822	HP:0008734	Decreased testicular size
OMIM:614858	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:614858	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:614858	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:614858	FLRT3	23767	HP:0000458	Anosmia
OMIM:614858	FLRT3	23767	HP:0008734	Decreased testicular size
OMIM:614858	FLRT3	23767	HP:0000006	Autosomal dominant inheritance
OMIM:614858	FLRT3	23767	HP:0000028	Cryptorchidism
OMIM:614858	FLRT3	23767	HP:0000786	Primary amenorrhea
OMIM:614858	DUSP6	1848	HP:0000458	Anosmia
OMIM:614858	DUSP6	1848	HP:0008734	Decreased testicular size
OMIM:614858	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:614858	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:614858	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:614858	SPRY4	81848	HP:0000458	Anosmia
OMIM:614858	SPRY4	81848	HP:0008734	Decreased testicular size
OMIM:614858	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:614858	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:614858	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:614858	KISS1R	84634	HP:0000458	Anosmia
OMIM:614858	KISS1R	84634	HP:0008734	Decreased testicular size
OMIM:614858	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:614858	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:614858	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:614858	NSMF	26012	HP:0000458	Anosmia
OMIM:614858	NSMF	26012	HP:0008734	Decreased testicular size
OMIM:614858	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:614858	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:614858	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:615071	LARP7	51574	HP:0000007	Autosomal recessive inheritance
OMIM:615071	LARP7	51574	HP:0003510	Severe short stature
OMIM:615071	LARP7	51574	HP:0000272	Malar flattening
OMIM:615071	LARP7	51574	HP:0000154	Wide mouth
OMIM:615071	LARP7	51574	HP:0000252	Microcephaly
OMIM:615071	LARP7	51574	HP:0004325	Decreased body weight
OMIM:615071	LARP7	51574	HP:0000322	Short philtrum
OMIM:615071	LARP7	51574	HP:0000445	Wide nose
OMIM:615071	LARP7	51574	HP:0002650	Scoliosis
OMIM:615071	LARP7	51574	HP:0010864	Intellectual disability, severe
OMIM:300835	GATA1	2623	HP:0011875	Abnormal platelet morphology
OMIM:300835	GATA1	2623	HP:0003828	Variable expressivity
OMIM:300835	GATA1	2623	HP:0001873	Thrombocytopenia
OMIM:300835	GATA1	2623	HP:0003540	Impaired platelet aggregation
OMIM:300835	GATA1	2623	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:300835	GATA1	2623	HP:0004312	Abnormality of reticulocytes
OMIM:300835	GATA1	2623	HP:0003593	Infantile onset
OMIM:300835	GATA1	2623	HP:0001875	Neutropenia
OMIM:300835	GATA1	2623	HP:0001419	X-linked recessive inheritance
OMIM:300835	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:605231	MKKS	8195	HP:0000047	Hypospadias
OMIM:605231	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:605231	MKKS	8195	HP:0001249	Intellectual disability
OMIM:605231	MKKS	8195	HP:0000819	Diabetes mellitus
OMIM:605231	MKKS	8195	HP:0010442	Polydactyly
OMIM:605231	MKKS	8195	HP:0000107	Renal cyst
OMIM:605231	MKKS	8195	HP:0001513	Obesity
OMIM:605231	MKKS	8195	HP:0001159	Syndactyly
OMIM:605231	MKKS	8195	HP:0003241	External genital hypoplasia
OMIM:605231	NPHP1	4867	HP:0000047	Hypospadias
OMIM:605231	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:605231	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:605231	NPHP1	4867	HP:0000819	Diabetes mellitus
OMIM:605231	NPHP1	4867	HP:0010442	Polydactyly
OMIM:605231	NPHP1	4867	HP:0000107	Renal cyst
OMIM:605231	NPHP1	4867	HP:0001513	Obesity
OMIM:605231	NPHP1	4867	HP:0001159	Syndactyly
OMIM:605231	NPHP1	4867	HP:0003241	External genital hypoplasia
OMIM:605231	BBIP1	92482	HP:0000047	Hypospadias
OMIM:605231	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:605231	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:605231	BBIP1	92482	HP:0000819	Diabetes mellitus
OMIM:605231	BBIP1	92482	HP:0010442	Polydactyly
OMIM:605231	BBIP1	92482	HP:0000107	Renal cyst
OMIM:605231	BBIP1	92482	HP:0001513	Obesity
OMIM:605231	BBIP1	92482	HP:0001159	Syndactyly
OMIM:605231	BBIP1	92482	HP:0003241	External genital hypoplasia
OMIM:605231	ARL6	84100	HP:0000047	Hypospadias
OMIM:605231	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:605231	ARL6	84100	HP:0001249	Intellectual disability
OMIM:605231	ARL6	84100	HP:0000819	Diabetes mellitus
OMIM:605231	ARL6	84100	HP:0010442	Polydactyly
OMIM:605231	ARL6	84100	HP:0000107	Renal cyst
OMIM:605231	ARL6	84100	HP:0001513	Obesity
OMIM:605231	ARL6	84100	HP:0001159	Syndactyly
OMIM:605231	ARL6	84100	HP:0003241	External genital hypoplasia
OMIM:605231	BBS1	582	HP:0000047	Hypospadias
OMIM:605231	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:605231	BBS1	582	HP:0001249	Intellectual disability
OMIM:605231	BBS1	582	HP:0000819	Diabetes mellitus
OMIM:605231	BBS1	582	HP:0010442	Polydactyly
OMIM:605231	BBS1	582	HP:0000107	Renal cyst
OMIM:605231	BBS1	582	HP:0001513	Obesity
OMIM:605231	BBS1	582	HP:0001159	Syndactyly
OMIM:605231	BBS1	582	HP:0003241	External genital hypoplasia
OMIM:605231	BBS2	583	HP:0000047	Hypospadias
OMIM:605231	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:605231	BBS2	583	HP:0001249	Intellectual disability
OMIM:605231	BBS2	583	HP:0000819	Diabetes mellitus
OMIM:605231	BBS2	583	HP:0010442	Polydactyly
OMIM:605231	BBS2	583	HP:0000107	Renal cyst
OMIM:605231	BBS2	583	HP:0001513	Obesity
OMIM:605231	BBS2	583	HP:0001159	Syndactyly
OMIM:605231	BBS2	583	HP:0003241	External genital hypoplasia
OMIM:605231	BBS4	585	HP:0000047	Hypospadias
OMIM:605231	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:605231	BBS4	585	HP:0001249	Intellectual disability
OMIM:605231	BBS4	585	HP:0000819	Diabetes mellitus
OMIM:605231	BBS4	585	HP:0010442	Polydactyly
OMIM:605231	BBS4	585	HP:0000107	Renal cyst
OMIM:605231	BBS4	585	HP:0001513	Obesity
OMIM:605231	BBS4	585	HP:0001159	Syndactyly
OMIM:605231	BBS4	585	HP:0003241	External genital hypoplasia
OMIM:605231	BBS9	27241	HP:0000047	Hypospadias
OMIM:605231	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:605231	BBS9	27241	HP:0001249	Intellectual disability
OMIM:605231	BBS9	27241	HP:0000819	Diabetes mellitus
OMIM:605231	BBS9	27241	HP:0010442	Polydactyly
OMIM:605231	BBS9	27241	HP:0000107	Renal cyst
OMIM:605231	BBS9	27241	HP:0001513	Obesity
OMIM:605231	BBS9	27241	HP:0001159	Syndactyly
OMIM:605231	BBS9	27241	HP:0003241	External genital hypoplasia
OMIM:605231	TTC8	123016	HP:0000047	Hypospadias
OMIM:605231	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:605231	TTC8	123016	HP:0001249	Intellectual disability
OMIM:605231	TTC8	123016	HP:0000819	Diabetes mellitus
OMIM:605231	TTC8	123016	HP:0010442	Polydactyly
OMIM:605231	TTC8	123016	HP:0000107	Renal cyst
OMIM:605231	TTC8	123016	HP:0001513	Obesity
OMIM:605231	TTC8	123016	HP:0001159	Syndactyly
OMIM:605231	TTC8	123016	HP:0003241	External genital hypoplasia
OMIM:605231	BBS12	166379	HP:0000047	Hypospadias
OMIM:605231	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:605231	BBS12	166379	HP:0001249	Intellectual disability
OMIM:605231	BBS12	166379	HP:0000819	Diabetes mellitus
OMIM:605231	BBS12	166379	HP:0010442	Polydactyly
OMIM:605231	BBS12	166379	HP:0000107	Renal cyst
OMIM:605231	BBS12	166379	HP:0001513	Obesity
OMIM:605231	BBS12	166379	HP:0001159	Syndactyly
OMIM:605231	BBS12	166379	HP:0003241	External genital hypoplasia
OMIM:605231	TRIM32	22954	HP:0000047	Hypospadias
OMIM:605231	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:605231	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:605231	TRIM32	22954	HP:0000819	Diabetes mellitus
OMIM:605231	TRIM32	22954	HP:0010442	Polydactyly
OMIM:605231	TRIM32	22954	HP:0000107	Renal cyst
OMIM:605231	TRIM32	22954	HP:0001513	Obesity
OMIM:605231	TRIM32	22954	HP:0001159	Syndactyly
OMIM:605231	TRIM32	22954	HP:0003241	External genital hypoplasia
OMIM:605231	BBS7	55212	HP:0000047	Hypospadias
OMIM:605231	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:605231	BBS7	55212	HP:0001249	Intellectual disability
OMIM:605231	BBS7	55212	HP:0000819	Diabetes mellitus
OMIM:605231	BBS7	55212	HP:0010442	Polydactyly
OMIM:605231	BBS7	55212	HP:0000107	Renal cyst
OMIM:605231	BBS7	55212	HP:0001513	Obesity
OMIM:605231	BBS7	55212	HP:0001159	Syndactyly
OMIM:605231	BBS7	55212	HP:0003241	External genital hypoplasia
OMIM:605231	IFT27	11020	HP:0000047	Hypospadias
OMIM:605231	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:605231	IFT27	11020	HP:0001249	Intellectual disability
OMIM:605231	IFT27	11020	HP:0000819	Diabetes mellitus
OMIM:605231	IFT27	11020	HP:0010442	Polydactyly
OMIM:605231	IFT27	11020	HP:0000107	Renal cyst
OMIM:605231	IFT27	11020	HP:0001513	Obesity
OMIM:605231	IFT27	11020	HP:0001159	Syndactyly
OMIM:605231	IFT27	11020	HP:0003241	External genital hypoplasia
OMIM:605231	IFT172	26160	HP:0000047	Hypospadias
OMIM:605231	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:605231	IFT172	26160	HP:0001249	Intellectual disability
OMIM:605231	IFT172	26160	HP:0000819	Diabetes mellitus
OMIM:605231	IFT172	26160	HP:0010442	Polydactyly
OMIM:605231	IFT172	26160	HP:0000107	Renal cyst
OMIM:605231	IFT172	26160	HP:0001513	Obesity
OMIM:605231	IFT172	26160	HP:0001159	Syndactyly
OMIM:605231	IFT172	26160	HP:0003241	External genital hypoplasia
OMIM:605231	WDPCP	51057	HP:0000047	Hypospadias
OMIM:605231	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:605231	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:605231	WDPCP	51057	HP:0000819	Diabetes mellitus
OMIM:605231	WDPCP	51057	HP:0010442	Polydactyly
OMIM:605231	WDPCP	51057	HP:0000107	Renal cyst
OMIM:605231	WDPCP	51057	HP:0001513	Obesity
OMIM:605231	WDPCP	51057	HP:0001159	Syndactyly
OMIM:605231	WDPCP	51057	HP:0003241	External genital hypoplasia
OMIM:605231	SDCCAG8	10806	HP:0000047	Hypospadias
OMIM:605231	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:605231	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:605231	SDCCAG8	10806	HP:0000819	Diabetes mellitus
OMIM:605231	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:605231	SDCCAG8	10806	HP:0000107	Renal cyst
OMIM:605231	SDCCAG8	10806	HP:0001513	Obesity
OMIM:605231	SDCCAG8	10806	HP:0001159	Syndactyly
OMIM:605231	SDCCAG8	10806	HP:0003241	External genital hypoplasia
OMIM:605231	MKS1	54903	HP:0000047	Hypospadias
OMIM:605231	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:605231	MKS1	54903	HP:0001249	Intellectual disability
OMIM:605231	MKS1	54903	HP:0000819	Diabetes mellitus
OMIM:605231	MKS1	54903	HP:0010442	Polydactyly
OMIM:605231	MKS1	54903	HP:0000107	Renal cyst
OMIM:605231	MKS1	54903	HP:0001513	Obesity
OMIM:605231	MKS1	54903	HP:0001159	Syndactyly
OMIM:605231	MKS1	54903	HP:0003241	External genital hypoplasia
OMIM:605231	BBS5	129880	HP:0000047	Hypospadias
OMIM:605231	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:605231	BBS5	129880	HP:0001249	Intellectual disability
OMIM:605231	BBS5	129880	HP:0000819	Diabetes mellitus
OMIM:605231	BBS5	129880	HP:0010442	Polydactyly
OMIM:605231	BBS5	129880	HP:0000107	Renal cyst
OMIM:605231	BBS5	129880	HP:0001513	Obesity
OMIM:605231	BBS5	129880	HP:0001159	Syndactyly
OMIM:605231	BBS5	129880	HP:0003241	External genital hypoplasia
OMIM:605231	CEP290	80184	HP:0000047	Hypospadias
OMIM:605231	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:605231	CEP290	80184	HP:0001249	Intellectual disability
OMIM:605231	CEP290	80184	HP:0000819	Diabetes mellitus
OMIM:605231	CEP290	80184	HP:0010442	Polydactyly
OMIM:605231	CEP290	80184	HP:0000107	Renal cyst
OMIM:605231	CEP290	80184	HP:0001513	Obesity
OMIM:605231	CEP290	80184	HP:0001159	Syndactyly
OMIM:605231	CEP290	80184	HP:0003241	External genital hypoplasia
OMIM:605231	LZTFL1	54585	HP:0000047	Hypospadias
OMIM:605231	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:605231	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:605231	LZTFL1	54585	HP:0000819	Diabetes mellitus
OMIM:605231	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:605231	LZTFL1	54585	HP:0000107	Renal cyst
OMIM:605231	LZTFL1	54585	HP:0001513	Obesity
OMIM:605231	LZTFL1	54585	HP:0001159	Syndactyly
OMIM:605231	LZTFL1	54585	HP:0003241	External genital hypoplasia
OMIM:605231	BBS10	79738	HP:0000047	Hypospadias
OMIM:605231	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:605231	BBS10	79738	HP:0001249	Intellectual disability
OMIM:605231	BBS10	79738	HP:0000819	Diabetes mellitus
OMIM:605231	BBS10	79738	HP:0010442	Polydactyly
OMIM:605231	BBS10	79738	HP:0000107	Renal cyst
OMIM:605231	BBS10	79738	HP:0001513	Obesity
OMIM:605231	BBS10	79738	HP:0001159	Syndactyly
OMIM:605231	BBS10	79738	HP:0003241	External genital hypoplasia
OMIM:229600	ALDOB	229	HP:0002149	Hyperuricemia
OMIM:229600	ALDOB	229	HP:0001259	Coma
OMIM:229600	ALDOB	229	HP:0002148	Hypophosphatemia
OMIM:229600	ALDOB	229	HP:0001249	Intellectual disability
OMIM:229600	ALDOB	229	HP:0001250	Seizures
OMIM:229600	ALDOB	229	HP:0001508	Failure to thrive
OMIM:229600	ALDOB	229	HP:0002910	Elevated hepatic transaminases
OMIM:229600	ALDOB	229	HP:0001394	Cirrhosis
OMIM:229600	ALDOB	229	HP:0002027	Abdominal pain
OMIM:229600	ALDOB	229	HP:0000952	Jaundice
OMIM:229600	ALDOB	229	HP:0000007	Autosomal recessive inheritance
OMIM:229600	ALDOB	229	HP:0001254	Lethargy
OMIM:229600	ALDOB	229	HP:0001942	Metabolic acidosis
OMIM:229600	ALDOB	229	HP:0003128	Lactic acidosis
OMIM:229600	ALDOB	229	HP:0001397	Hepatic steatosis
OMIM:229600	ALDOB	229	HP:0002240	Hepatomegaly
OMIM:229600	ALDOB	229	HP:0002904	Hyperbilirubinemia
OMIM:229600	ALDOB	229	HP:0002239	Gastrointestinal hemorrhage
OMIM:229600	ALDOB	229	HP:0002018	Nausea
OMIM:229600	ALDOB	229	HP:0004395	Malnutrition
OMIM:229600	ALDOB	229	HP:0001943	Hypoglycemia
OMIM:229600	ALDOB	229	HP:0002013	Vomiting
OMIM:116400	CRYAA	1409	HP:0000519	Congenital cataract
OMIM:116400	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYAA	1409	HP:0100018	Nuclear cataract
OMIM:116400	CRYAB	1410	HP:0000519	Congenital cataract
OMIM:116400	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYAB	1410	HP:0100018	Nuclear cataract
OMIM:116400	CRYBA1	1411	HP:0000519	Congenital cataract
OMIM:116400	CRYBA1	1411	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYBA1	1411	HP:0100018	Nuclear cataract
OMIM:116400	HSF4	3299	HP:0000519	Congenital cataract
OMIM:116400	HSF4	3299	HP:0000006	Autosomal dominant inheritance
OMIM:116400	HSF4	3299	HP:0100018	Nuclear cataract
OMIM:116400	BFSP2	8419	HP:0000519	Congenital cataract
OMIM:116400	BFSP2	8419	HP:0000006	Autosomal dominant inheritance
OMIM:116400	BFSP2	8419	HP:0100018	Nuclear cataract
OMIM:116400	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:116400	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYBA2	1412	HP:0100018	Nuclear cataract
OMIM:116400	CRYBA4	1413	HP:0000519	Congenital cataract
OMIM:116400	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYBA4	1413	HP:0100018	Nuclear cataract
OMIM:116400	CRYBB1	1414	HP:0000519	Congenital cataract
OMIM:116400	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYBB1	1414	HP:0100018	Nuclear cataract
OMIM:116400	AGK	55750	HP:0000519	Congenital cataract
OMIM:116400	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:116400	AGK	55750	HP:0100018	Nuclear cataract
OMIM:116400	CRYBB2	1415	HP:0000519	Congenital cataract
OMIM:116400	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYBB2	1415	HP:0100018	Nuclear cataract
OMIM:116400	CRYBB3	1417	HP:0000519	Congenital cataract
OMIM:116400	CRYBB3	1417	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYBB3	1417	HP:0100018	Nuclear cataract
OMIM:116400	WFS1	7466	HP:0000519	Congenital cataract
OMIM:116400	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:116400	WFS1	7466	HP:0100018	Nuclear cataract
OMIM:116400	NHS	4810	HP:0000519	Congenital cataract
OMIM:116400	NHS	4810	HP:0000006	Autosomal dominant inheritance
OMIM:116400	NHS	4810	HP:0100018	Nuclear cataract
OMIM:116400	CRYGB	1419	HP:0000519	Congenital cataract
OMIM:116400	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYGB	1419	HP:0100018	Nuclear cataract
OMIM:116400	CRYGC	1420	HP:0000519	Congenital cataract
OMIM:116400	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYGC	1420	HP:0100018	Nuclear cataract
OMIM:116400	GJA3	2700	HP:0000519	Congenital cataract
OMIM:116400	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:116400	GJA3	2700	HP:0100018	Nuclear cataract
OMIM:116400	UNC45B	146862	HP:0000519	Congenital cataract
OMIM:116400	UNC45B	146862	HP:0000006	Autosomal dominant inheritance
OMIM:116400	UNC45B	146862	HP:0100018	Nuclear cataract
OMIM:116400	CRYGD	1421	HP:0000519	Congenital cataract
OMIM:116400	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYGD	1421	HP:0100018	Nuclear cataract
OMIM:116400	FYCO1	79443	HP:0000519	Congenital cataract
OMIM:116400	FYCO1	79443	HP:0000006	Autosomal dominant inheritance
OMIM:116400	FYCO1	79443	HP:0100018	Nuclear cataract
OMIM:116400	CRYGS	1427	HP:0000519	Congenital cataract
OMIM:116400	CRYGS	1427	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYGS	1427	HP:0100018	Nuclear cataract
OMIM:116400	BFSP1	631	HP:0000519	Congenital cataract
OMIM:116400	BFSP1	631	HP:0000006	Autosomal dominant inheritance
OMIM:116400	BFSP1	631	HP:0100018	Nuclear cataract
OMIM:116400	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:116400	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:116400	GCNT2	2651	HP:0100018	Nuclear cataract
OMIM:116400	MIP	4284	HP:0000519	Congenital cataract
OMIM:116400	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:116400	MIP	4284	HP:0100018	Nuclear cataract
OMIM:137940	SOX18	54345	HP:0000083	Renal insufficiency
OMIM:137940	SOX18	54345	HP:0000653	Sparse eyelashes
OMIM:137940	SOX18	54345	HP:0000303	Mandibular prognathia
OMIM:137940	SOX18	54345	HP:0000300	Oval face
OMIM:137940	SOX18	54345	HP:0000431	Wide nasal bridge
OMIM:137940	SOX18	54345	HP:0001596	Alopecia
OMIM:137940	SOX18	54345	HP:0000535	Sparse eyebrow
OMIM:137940	SOX18	54345	HP:0000006	Autosomal dominant inheritance
OMIM:137940	SOX18	54345	HP:0003189	Long nose
OMIM:137940	SOX18	54345	HP:0012471	Thick vermilion border
OMIM:137940	SOX18	54345	HP:0000426	Prominent nasal bridge
OMIM:137940	SOX18	54345	HP:0001002	Decreased subcutaneous fat
OMIM:137940	SOX18	54345	HP:0000286	Epicanthus
OMIM:300842	XK	7504	HP:0001638	Cardiomyopathy
OMIM:300842	XK	7504	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300842	XK	7504	HP:0002197	Generalized seizures
OMIM:300842	XK	7504	HP:0001324	Muscle weakness
OMIM:612394	PLOD3	8985	HP:0001511	Intrauterine growth retardation
OMIM:612394	PLOD3	8985	HP:0002987	Elbow flexion contracture
OMIM:612394	PLOD3	8985	HP:0002208	Coarse hair
OMIM:612394	PLOD3	8985	HP:0002164	Nail dysplasia
OMIM:612394	PLOD3	8985	HP:0002756	Pathologic fracture
OMIM:612394	PLOD3	8985	HP:0001762	Talipes equinovarus
OMIM:612394	PLOD3	8985	HP:0000978	Bruising susceptibility
OMIM:612394	PLOD3	8985	HP:0008897	Postnatal growth retardation
OMIM:612394	PLOD3	8985	HP:0000343	Long philtrum
OMIM:612394	PLOD3	8985	HP:0002714	Downturned corners of mouth
OMIM:612394	PLOD3	8985	HP:0012368	Flat face
OMIM:612394	PLOD3	8985	HP:0001263	Global developmental delay
OMIM:612394	PLOD3	8985	HP:0000518	Cataract
OMIM:612394	PLOD3	8985	HP:0000377	Abnormality of the pinna
OMIM:612394	PLOD3	8985	HP:0000369	Low-set ears
OMIM:612394	PLOD3	8985	HP:0003393	Thenar muscle atrophy
OMIM:612394	PLOD3	8985	HP:0000926	Platyspondyly
OMIM:612394	PLOD3	8985	HP:0000365	Hearing impairment
OMIM:612394	PLOD3	8985	HP:0000463	Anteverted nares
OMIM:612394	PLOD3	8985	HP:0003196	Short nose
OMIM:612394	PLOD3	8985	HP:0002650	Scoliosis
OMIM:612394	PLOD3	8985	HP:0000007	Autosomal recessive inheritance
OMIM:612394	PLOD3	8985	HP:0000938	Osteopenia
OMIM:612394	PLOD3	8985	HP:0000272	Malar flattening
OMIM:612394	PLOD3	8985	HP:0000545	Myopia
OMIM:277970	WIPF1	7456	HP:0000964	Eczema
OMIM:277970	WIPF1	7456	HP:0001873	Thrombocytopenia
OMIM:277970	WIPF1	7456	HP:0000007	Autosomal recessive inheritance
OMIM:277970	WIPF1	7456	HP:0002664	Neoplasm
OMIM:277970	WIPF1	7456	HP:0000979	Purpura
OMIM:277970	WIPF1	7456	HP:0002573	Hematochezia
OMIM:277970	WAS	7454	HP:0000964	Eczema
OMIM:277970	WAS	7454	HP:0001873	Thrombocytopenia
OMIM:277970	WAS	7454	HP:0000007	Autosomal recessive inheritance
OMIM:277970	WAS	7454	HP:0002664	Neoplasm
OMIM:277970	WAS	7454	HP:0000979	Purpura
OMIM:277970	WAS	7454	HP:0002573	Hematochezia
OMIM:613616	HOGA1	112817	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:613616	HOGA1	112817	HP:0000007	Autosomal recessive inheritance
OMIM:614113	MBD5	55777	HP:0001249	Intellectual disability
OMIM:614113	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:614113	MBD5	55777	HP:0001263	Global developmental delay
OMIM:614113	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:614113	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:614113	CACNG2	10369	HP:0001263	Global developmental delay
OMIM:614113	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:614113	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:614113	DYRK1A	1859	HP:0001263	Global developmental delay
OMIM:614113	KIF1A	547	HP:0001249	Intellectual disability
OMIM:614113	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:614113	KIF1A	547	HP:0001263	Global developmental delay
OMIM:614113	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:614113	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:614113	DOCK8	81704	HP:0001263	Global developmental delay
OMIM:614113	TCF4	6925	HP:0001249	Intellectual disability
OMIM:614113	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:614113	TCF4	6925	HP:0001263	Global developmental delay
OMIM:614113	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:614113	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:614113	KIRREL3	84623	HP:0001263	Global developmental delay
OMIM:614113	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:614113	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:614113	DYNC1H1	1778	HP:0001263	Global developmental delay
OMIM:614113	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:614113	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:614113	EPB41L1	2036	HP:0001263	Global developmental delay
OMIM:614113	CDH15	1013	HP:0001249	Intellectual disability
OMIM:614113	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:614113	CDH15	1013	HP:0001263	Global developmental delay
OMIM:614113	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:614113	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:614113	GRIN1	2902	HP:0001263	Global developmental delay
OMIM:614113	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:614113	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:614113	GRIN2B	2904	HP:0001263	Global developmental delay
OMIM:614113	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:614113	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:614113	DEAF1	10522	HP:0001263	Global developmental delay
OMIM:614113	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:614113	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:614113	SYNGAP1	8831	HP:0001263	Global developmental delay
OMIM:613876	NEXN	91624	HP:0001712	Left ventricular hypertrophy
OMIM:613876	NEXN	91624	HP:0005110	Atrial fibrillation
OMIM:613876	NEXN	91624	HP:0001638	Cardiomyopathy
OMIM:613876	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:614736	STAR	6770	HP:0000007	Autosomal recessive inheritance
OMIM:614736	STAR	6770	HP:0001943	Hypoglycemia
OMIM:614736	STAR	6770	HP:0001508	Failure to thrive
OMIM:614736	MRAP	56246	HP:0000007	Autosomal recessive inheritance
OMIM:614736	MRAP	56246	HP:0001943	Hypoglycemia
OMIM:614736	MRAP	56246	HP:0001508	Failure to thrive
OMIM:614736	NNT	23530	HP:0000007	Autosomal recessive inheritance
OMIM:614736	NNT	23530	HP:0001943	Hypoglycemia
OMIM:614736	NNT	23530	HP:0001508	Failure to thrive
OMIM:614736	TXNRD2	10587	HP:0000007	Autosomal recessive inheritance
OMIM:614736	TXNRD2	10587	HP:0001943	Hypoglycemia
OMIM:614736	TXNRD2	10587	HP:0001508	Failure to thrive
OMIM:614736	MC2R	4158	HP:0000007	Autosomal recessive inheritance
OMIM:614736	MC2R	4158	HP:0001943	Hypoglycemia
OMIM:614736	MC2R	4158	HP:0001508	Failure to thrive
OMIM:615282	KIF5C	3800	HP:0001263	Global developmental delay
OMIM:615282	KIF5C	3800	HP:0003577	Congenital onset
OMIM:615282	KIF5C	3800	HP:0001250	Seizures
OMIM:615282	KIF5C	3800	HP:0001511	Intrauterine growth retardation
OMIM:615282	KIF5C	3800	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615282	KIF5C	3800	HP:0002510	Spastic tetraplegia
OMIM:615282	KIF5C	3800	HP:0000252	Microcephaly
OMIM:615282	KIF5C	3800	HP:0000006	Autosomal dominant inheritance
OMIM:615282	KIF5C	3800	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615282	KIF5C	3800	HP:0002126	Polymicrogyria
OMIM:615282	KIF5C	3800	HP:0002539	Cortical dysplasia
OMIM:615282	KIF5C	3800	HP:0001344	Absent speech
OMIM:212138	SLC25A20	788	HP:0001259	Coma
OMIM:212138	SLC25A20	788	HP:0002910	Elevated hepatic transaminases
OMIM:212138	SLC25A20	788	HP:0001252	Muscular hypotonia
OMIM:212138	SLC25A20	788	HP:0001987	Hyperammonemia
OMIM:212138	SLC25A20	788	HP:0003201	Rhabdomyolysis
OMIM:212138	SLC25A20	788	HP:0000007	Autosomal recessive inheritance
OMIM:212138	SLC25A20	788	HP:0001714	Ventricular hypertrophy
OMIM:212138	SLC25A20	788	HP:0000737	Irritability
OMIM:212138	SLC25A20	788	HP:0003236	Elevated serum creatine phosphokinase
OMIM:212138	SLC25A20	788	HP:0001943	Hypoglycemia
OMIM:212138	SLC25A20	788	HP:0001324	Muscle weakness
OMIM:212138	SLC25A20	788	HP:0001254	Lethargy
OMIM:212138	SLC25A20	788	HP:0001662	Bradycardia
OMIM:212138	SLC25A20	788	HP:0004756	Ventricular tachycardia
OMIM:212138	SLC25A20	788	HP:0001638	Cardiomyopathy
OMIM:212138	SLC25A20	788	HP:0002240	Hepatomegaly
OMIM:212138	SLC25A20	788	HP:0001250	Seizures
OMIM:212138	SLC25A20	788	HP:0003215	Dicarboxylic aciduria
OMIM:212138	SLC25A20	788	HP:0006682	Ventricular extrasystoles
OMIM:212138	SLC25A20	788	HP:0001678	Atrioventricular block
OMIM:613254	TSC1	7248	HP:0007018	Attention deficit hyperactivity disorder
OMIM:613254	TSC1	7248	HP:0000006	Autosomal dominant inheritance
OMIM:613254	TSC1	7248	HP:0000169	Gingival fibromatosis
OMIM:613254	TSC1	7248	HP:0001249	Intellectual disability
OMIM:613254	TSC1	7248	HP:0009592	Astrocytoma
OMIM:613254	TSC1	7248	HP:0000107	Renal cyst
OMIM:613254	TSC1	7248	HP:0000821	Hypothyroidism
OMIM:613254	TSC1	7248	HP:0002888	Ependymoma
OMIM:613254	TSC1	7248	HP:0000957	Cafe-au-lait spot
OMIM:613254	TSC1	7248	HP:0002514	Cerebral calcification
OMIM:613254	TSC1	7248	HP:0001328	Specific learning disability
OMIM:613254	TSC1	7248	HP:0000826	Precocious puberty
OMIM:613254	TSC1	7248	HP:0001482	Subcutaneous nodule
OMIM:613254	TSC1	7248	HP:0000717	Autism
OMIM:613254	TSC1	7248	HP:0003812	Phenotypic variability
OMIM:613254	TSC2	7249	HP:0007018	Attention deficit hyperactivity disorder
OMIM:613254	TSC2	7249	HP:0000006	Autosomal dominant inheritance
OMIM:613254	TSC2	7249	HP:0000169	Gingival fibromatosis
OMIM:613254	TSC2	7249	HP:0001249	Intellectual disability
OMIM:613254	TSC2	7249	HP:0009592	Astrocytoma
OMIM:613254	TSC2	7249	HP:0000107	Renal cyst
OMIM:613254	TSC2	7249	HP:0000821	Hypothyroidism
OMIM:613254	TSC2	7249	HP:0002888	Ependymoma
OMIM:613254	TSC2	7249	HP:0000957	Cafe-au-lait spot
OMIM:613254	TSC2	7249	HP:0002514	Cerebral calcification
OMIM:613254	TSC2	7249	HP:0001328	Specific learning disability
OMIM:613254	TSC2	7249	HP:0000826	Precocious puberty
OMIM:613254	TSC2	7249	HP:0001482	Subcutaneous nodule
OMIM:613254	TSC2	7249	HP:0000717	Autism
OMIM:613254	TSC2	7249	HP:0003812	Phenotypic variability
OMIM:600142	HTRA1	5654	HP:0001596	Alopecia
OMIM:600142	HTRA1	5654	HP:0000726	Dementia
OMIM:600142	HTRA1	5654	HP:0003487	Babinski sign
OMIM:600142	HTRA1	5654	HP:0001288	Gait disturbance
OMIM:600142	HTRA1	5654	HP:0000020	Urinary incontinence
OMIM:600142	HTRA1	5654	HP:0001347	Hyperreflexia
OMIM:600142	HTRA1	5654	HP:0002200	Pseudobulbar signs
OMIM:600142	HTRA1	5654	HP:0002448	Progressive encephalopathy
OMIM:600142	HTRA1	5654	HP:0001260	Dysarthria
OMIM:600142	HTRA1	5654	HP:0000007	Autosomal recessive inheritance
OMIM:600142	HTRA1	5654	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:600142	HTRA1	5654	HP:0001251	Ataxia
OMIM:600142	HTRA1	5654	HP:0001257	Spasticity
OMIM:600142	HTRA1	5654	HP:0000639	Nystagmus
OMIM:600142	HTRA1	5654	HP:0002063	Rigidity
OMIM:270700	ZFYVE26	23503	HP:0007340	Lower limb muscle weakness
OMIM:270700	ZFYVE26	23503	HP:0000020	Urinary incontinence
OMIM:270700	ZFYVE26	23503	HP:0002061	Lower limb spasticity
OMIM:270700	ZFYVE26	23503	HP:0002079	Hypoplasia of the corpus callosum
OMIM:270700	ZFYVE26	23503	HP:0000639	Nystagmus
OMIM:270700	ZFYVE26	23503	HP:0003477	Peripheral axonal neuropathy
OMIM:270700	ZFYVE26	23503	HP:0007663	Reduced visual acuity
OMIM:270700	ZFYVE26	23503	HP:0000608	Macular degeneration
OMIM:270700	ZFYVE26	23503	HP:0000546	Retinal degeneration
OMIM:270700	ZFYVE26	23503	HP:0000720	Mood swings
OMIM:270700	ZFYVE26	23503	HP:0001251	Ataxia
OMIM:270700	ZFYVE26	23503	HP:0001258	Spastic paraplegia
OMIM:270700	ZFYVE26	23503	HP:0000709	Psychosis
OMIM:270700	ZFYVE26	23503	HP:0000007	Autosomal recessive inheritance
OMIM:270700	ZFYVE26	23503	HP:0003676	Progressive
OMIM:270700	ZFYVE26	23503	HP:0002169	Clonus
OMIM:270700	ZFYVE26	23503	HP:0001761	Pes cavus
OMIM:270700	ZFYVE26	23503	HP:0000012	Urinary urgency
OMIM:270700	ZFYVE26	23503	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:270700	ZFYVE26	23503	HP:0000505	Visual impairment
OMIM:270700	ZFYVE26	23503	HP:0003812	Phenotypic variability
OMIM:270700	ZFYVE26	23503	HP:0003693	Distal amyotrophy
OMIM:270700	ZFYVE26	23503	HP:0002064	Spastic gait
OMIM:270700	ZFYVE26	23503	HP:0002607	Bowel incontinence
OMIM:270700	ZFYVE26	23503	HP:0003487	Babinski sign
OMIM:270700	ZFYVE26	23503	HP:0001260	Dysarthria
OMIM:270700	ZFYVE26	23503	HP:0001249	Intellectual disability
OMIM:219750	CTNS	1497	HP:0000007	Autosomal recessive inheritance
OMIM:219750	CTNS	1497	HP:0000613	Photophobia
ORPHANET:1465	ARID1A	8289	HP:0005280	Depressed nasal bridge
ORPHANET:1465	ARID1A	8289	HP:0000457	Depressed nasal ridge
ORPHANET:1465	ARID1A	8289	HP:0000965	Cutis marmorata
ORPHANET:1465	ARID1A	8289	HP:0003298	Spina bifida occulta
ORPHANET:1465	ARID1A	8289	HP:0000499	Abnormality of the eyelashes
ORPHANET:1465	ARID1A	8289	HP:0100543	Cognitive impairment
ORPHANET:1465	ARID1A	8289	HP:0000365	Hearing impairment
ORPHANET:1465	ARID1A	8289	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1465	ARID1A	8289	HP:0000154	Wide mouth
ORPHANET:1465	ARID1A	8289	HP:0000322	Short philtrum
ORPHANET:1465	ARID1A	8289	HP:0000486	Strabismus
ORPHANET:1465	ARID1A	8289	HP:0002217	Slow-growing hair
ORPHANET:1465	ARID1A	8289	HP:0000574	Thick eyebrow
ORPHANET:1465	ARID1A	8289	HP:0001382	Joint hypermobility
ORPHANET:1465	ARID1A	8289	HP:0000508	Ptosis
ORPHANET:1465	ARID1A	8289	HP:0000632	Lacrimation abnormality
ORPHANET:1465	ARID1A	8289	HP:0001798	Anonychia
ORPHANET:1465	ARID1A	8289	HP:0003042	Elbow dislocation
ORPHANET:1465	ARID1A	8289	HP:0100542	Abnormal localization of kidney
ORPHANET:1465	ARID1A	8289	HP:0002205	Recurrent respiratory infections
ORPHANET:1465	ARID1A	8289	HP:0003272	Abnormality of the hip bone
ORPHANET:1465	ARID1A	8289	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:1465	ARID1A	8289	HP:0000164	Abnormality of the teeth
ORPHANET:1465	ARID1A	8289	HP:0002808	Kyphosis
ORPHANET:1465	ARID1A	8289	HP:0000954	Single transverse palmar crease
ORPHANET:1465	ARID1A	8289	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1465	ARID1A	8289	HP:0000175	Cleft palate
ORPHANET:1465	ARID1A	8289	HP:0000518	Cataract
ORPHANET:1465	ARID1A	8289	HP:0004322	Short stature
ORPHANET:1465	ARID1A	8289	HP:0000889	Abnormality of the clavicle
ORPHANET:1465	ARID1A	8289	HP:0000179	Thick lower lip vermilion
ORPHANET:1465	ARID1A	8289	HP:0000028	Cryptorchidism
ORPHANET:1465	ARID1A	8289	HP:0002650	Scoliosis
ORPHANET:1465	ARID1A	8289	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:1465	ARID1A	8289	HP:0000280	Coarse facial features
ORPHANET:1465	ARID1A	8289	HP:0001252	Muscular hypotonia
ORPHANET:1465	ARID1A	8289	HP:0000286	Epicanthus
ORPHANET:1465	ARID1A	8289	HP:0006443	Patellar aplasia
ORPHANET:1465	ARID1A	8289	HP:0001511	Intrauterine growth retardation
ORPHANET:1465	ARID1A	8289	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:1465	ARID1A	8289	HP:0000252	Microcephaly
ORPHANET:1465	ARID1A	8289	HP:0000639	Nystagmus
ORPHANET:1465	ARID1A	8289	HP:0000998	Hypertrichosis
ORPHANET:1465	ARID1A	8289	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:1465	ARID1A	8289	HP:0001305	Dandy-Walker malformation
ORPHANET:1465	ARID1A	8289	HP:0009882	Short distal phalanx of finger
ORPHANET:1465	ARID1A	8289	HP:0001250	Seizures
ORPHANET:1465	ARID1A	8289	HP:0008872	Feeding difficulties in infancy
ORPHANET:1465	ARID1B	57492	HP:0005280	Depressed nasal bridge
ORPHANET:1465	ARID1B	57492	HP:0000457	Depressed nasal ridge
ORPHANET:1465	ARID1B	57492	HP:0000965	Cutis marmorata
ORPHANET:1465	ARID1B	57492	HP:0003298	Spina bifida occulta
ORPHANET:1465	ARID1B	57492	HP:0000499	Abnormality of the eyelashes
ORPHANET:1465	ARID1B	57492	HP:0100543	Cognitive impairment
ORPHANET:1465	ARID1B	57492	HP:0000365	Hearing impairment
ORPHANET:1465	ARID1B	57492	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1465	ARID1B	57492	HP:0000154	Wide mouth
ORPHANET:1465	ARID1B	57492	HP:0000322	Short philtrum
ORPHANET:1465	ARID1B	57492	HP:0000486	Strabismus
ORPHANET:1465	ARID1B	57492	HP:0002217	Slow-growing hair
ORPHANET:1465	ARID1B	57492	HP:0000574	Thick eyebrow
ORPHANET:1465	ARID1B	57492	HP:0001382	Joint hypermobility
ORPHANET:1465	ARID1B	57492	HP:0000508	Ptosis
ORPHANET:1465	ARID1B	57492	HP:0000632	Lacrimation abnormality
ORPHANET:1465	ARID1B	57492	HP:0001798	Anonychia
ORPHANET:1465	ARID1B	57492	HP:0003042	Elbow dislocation
ORPHANET:1465	ARID1B	57492	HP:0100542	Abnormal localization of kidney
ORPHANET:1465	ARID1B	57492	HP:0002205	Recurrent respiratory infections
ORPHANET:1465	ARID1B	57492	HP:0003272	Abnormality of the hip bone
ORPHANET:1465	ARID1B	57492	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:1465	ARID1B	57492	HP:0000164	Abnormality of the teeth
ORPHANET:1465	ARID1B	57492	HP:0002808	Kyphosis
ORPHANET:1465	ARID1B	57492	HP:0000954	Single transverse palmar crease
ORPHANET:1465	ARID1B	57492	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1465	ARID1B	57492	HP:0000175	Cleft palate
ORPHANET:1465	ARID1B	57492	HP:0000518	Cataract
ORPHANET:1465	ARID1B	57492	HP:0004322	Short stature
ORPHANET:1465	ARID1B	57492	HP:0000889	Abnormality of the clavicle
ORPHANET:1465	ARID1B	57492	HP:0000179	Thick lower lip vermilion
ORPHANET:1465	ARID1B	57492	HP:0000028	Cryptorchidism
ORPHANET:1465	ARID1B	57492	HP:0002650	Scoliosis
ORPHANET:1465	ARID1B	57492	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:1465	ARID1B	57492	HP:0000280	Coarse facial features
ORPHANET:1465	ARID1B	57492	HP:0001252	Muscular hypotonia
ORPHANET:1465	ARID1B	57492	HP:0000286	Epicanthus
ORPHANET:1465	ARID1B	57492	HP:0006443	Patellar aplasia
ORPHANET:1465	ARID1B	57492	HP:0001511	Intrauterine growth retardation
ORPHANET:1465	ARID1B	57492	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:1465	ARID1B	57492	HP:0000252	Microcephaly
ORPHANET:1465	ARID1B	57492	HP:0000639	Nystagmus
ORPHANET:1465	ARID1B	57492	HP:0000998	Hypertrichosis
ORPHANET:1465	ARID1B	57492	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:1465	ARID1B	57492	HP:0001305	Dandy-Walker malformation
ORPHANET:1465	ARID1B	57492	HP:0009882	Short distal phalanx of finger
ORPHANET:1465	ARID1B	57492	HP:0001250	Seizures
ORPHANET:1465	ARID1B	57492	HP:0008872	Feeding difficulties in infancy
ORPHANET:1465	SMARCA4	6597	HP:0005280	Depressed nasal bridge
ORPHANET:1465	SMARCA4	6597	HP:0000457	Depressed nasal ridge
ORPHANET:1465	SMARCA4	6597	HP:0000965	Cutis marmorata
ORPHANET:1465	SMARCA4	6597	HP:0003298	Spina bifida occulta
ORPHANET:1465	SMARCA4	6597	HP:0000499	Abnormality of the eyelashes
ORPHANET:1465	SMARCA4	6597	HP:0100543	Cognitive impairment
ORPHANET:1465	SMARCA4	6597	HP:0000365	Hearing impairment
ORPHANET:1465	SMARCA4	6597	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1465	SMARCA4	6597	HP:0000154	Wide mouth
ORPHANET:1465	SMARCA4	6597	HP:0000322	Short philtrum
ORPHANET:1465	SMARCA4	6597	HP:0000486	Strabismus
ORPHANET:1465	SMARCA4	6597	HP:0002217	Slow-growing hair
ORPHANET:1465	SMARCA4	6597	HP:0000574	Thick eyebrow
ORPHANET:1465	SMARCA4	6597	HP:0001382	Joint hypermobility
ORPHANET:1465	SMARCA4	6597	HP:0000508	Ptosis
ORPHANET:1465	SMARCA4	6597	HP:0000632	Lacrimation abnormality
ORPHANET:1465	SMARCA4	6597	HP:0001798	Anonychia
ORPHANET:1465	SMARCA4	6597	HP:0003042	Elbow dislocation
ORPHANET:1465	SMARCA4	6597	HP:0100542	Abnormal localization of kidney
ORPHANET:1465	SMARCA4	6597	HP:0002205	Recurrent respiratory infections
ORPHANET:1465	SMARCA4	6597	HP:0003272	Abnormality of the hip bone
ORPHANET:1465	SMARCA4	6597	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:1465	SMARCA4	6597	HP:0000164	Abnormality of the teeth
ORPHANET:1465	SMARCA4	6597	HP:0002808	Kyphosis
ORPHANET:1465	SMARCA4	6597	HP:0000954	Single transverse palmar crease
ORPHANET:1465	SMARCA4	6597	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1465	SMARCA4	6597	HP:0000175	Cleft palate
ORPHANET:1465	SMARCA4	6597	HP:0000518	Cataract
ORPHANET:1465	SMARCA4	6597	HP:0004322	Short stature
ORPHANET:1465	SMARCA4	6597	HP:0000889	Abnormality of the clavicle
ORPHANET:1465	SMARCA4	6597	HP:0000179	Thick lower lip vermilion
ORPHANET:1465	SMARCA4	6597	HP:0000028	Cryptorchidism
ORPHANET:1465	SMARCA4	6597	HP:0002650	Scoliosis
ORPHANET:1465	SMARCA4	6597	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:1465	SMARCA4	6597	HP:0000280	Coarse facial features
ORPHANET:1465	SMARCA4	6597	HP:0001252	Muscular hypotonia
ORPHANET:1465	SMARCA4	6597	HP:0000286	Epicanthus
ORPHANET:1465	SMARCA4	6597	HP:0006443	Patellar aplasia
ORPHANET:1465	SMARCA4	6597	HP:0001511	Intrauterine growth retardation
ORPHANET:1465	SMARCA4	6597	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:1465	SMARCA4	6597	HP:0000252	Microcephaly
ORPHANET:1465	SMARCA4	6597	HP:0000639	Nystagmus
ORPHANET:1465	SMARCA4	6597	HP:0000998	Hypertrichosis
ORPHANET:1465	SMARCA4	6597	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:1465	SMARCA4	6597	HP:0001305	Dandy-Walker malformation
ORPHANET:1465	SMARCA4	6597	HP:0009882	Short distal phalanx of finger
ORPHANET:1465	SMARCA4	6597	HP:0001250	Seizures
ORPHANET:1465	SMARCA4	6597	HP:0008872	Feeding difficulties in infancy
ORPHANET:1465	SMARCB1	6598	HP:0005280	Depressed nasal bridge
ORPHANET:1465	SMARCB1	6598	HP:0000457	Depressed nasal ridge
ORPHANET:1465	SMARCB1	6598	HP:0000965	Cutis marmorata
ORPHANET:1465	SMARCB1	6598	HP:0003298	Spina bifida occulta
ORPHANET:1465	SMARCB1	6598	HP:0000499	Abnormality of the eyelashes
ORPHANET:1465	SMARCB1	6598	HP:0100543	Cognitive impairment
ORPHANET:1465	SMARCB1	6598	HP:0000365	Hearing impairment
ORPHANET:1465	SMARCB1	6598	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1465	SMARCB1	6598	HP:0000154	Wide mouth
ORPHANET:1465	SMARCB1	6598	HP:0000322	Short philtrum
ORPHANET:1465	SMARCB1	6598	HP:0000486	Strabismus
ORPHANET:1465	SMARCB1	6598	HP:0002217	Slow-growing hair
ORPHANET:1465	SMARCB1	6598	HP:0000574	Thick eyebrow
ORPHANET:1465	SMARCB1	6598	HP:0001382	Joint hypermobility
ORPHANET:1465	SMARCB1	6598	HP:0000508	Ptosis
ORPHANET:1465	SMARCB1	6598	HP:0000632	Lacrimation abnormality
ORPHANET:1465	SMARCB1	6598	HP:0001798	Anonychia
ORPHANET:1465	SMARCB1	6598	HP:0003042	Elbow dislocation
ORPHANET:1465	SMARCB1	6598	HP:0100542	Abnormal localization of kidney
ORPHANET:1465	SMARCB1	6598	HP:0002205	Recurrent respiratory infections
ORPHANET:1465	SMARCB1	6598	HP:0003272	Abnormality of the hip bone
ORPHANET:1465	SMARCB1	6598	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:1465	SMARCB1	6598	HP:0000164	Abnormality of the teeth
ORPHANET:1465	SMARCB1	6598	HP:0002808	Kyphosis
ORPHANET:1465	SMARCB1	6598	HP:0000954	Single transverse palmar crease
ORPHANET:1465	SMARCB1	6598	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1465	SMARCB1	6598	HP:0000175	Cleft palate
ORPHANET:1465	SMARCB1	6598	HP:0000518	Cataract
ORPHANET:1465	SMARCB1	6598	HP:0004322	Short stature
ORPHANET:1465	SMARCB1	6598	HP:0000889	Abnormality of the clavicle
ORPHANET:1465	SMARCB1	6598	HP:0000179	Thick lower lip vermilion
ORPHANET:1465	SMARCB1	6598	HP:0000028	Cryptorchidism
ORPHANET:1465	SMARCB1	6598	HP:0002650	Scoliosis
ORPHANET:1465	SMARCB1	6598	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:1465	SMARCB1	6598	HP:0000280	Coarse facial features
ORPHANET:1465	SMARCB1	6598	HP:0001252	Muscular hypotonia
ORPHANET:1465	SMARCB1	6598	HP:0000286	Epicanthus
ORPHANET:1465	SMARCB1	6598	HP:0006443	Patellar aplasia
ORPHANET:1465	SMARCB1	6598	HP:0001511	Intrauterine growth retardation
ORPHANET:1465	SMARCB1	6598	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:1465	SMARCB1	6598	HP:0000252	Microcephaly
ORPHANET:1465	SMARCB1	6598	HP:0000639	Nystagmus
ORPHANET:1465	SMARCB1	6598	HP:0000998	Hypertrichosis
ORPHANET:1465	SMARCB1	6598	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:1465	SMARCB1	6598	HP:0001305	Dandy-Walker malformation
ORPHANET:1465	SMARCB1	6598	HP:0009882	Short distal phalanx of finger
ORPHANET:1465	SMARCB1	6598	HP:0001250	Seizures
ORPHANET:1465	SMARCB1	6598	HP:0008872	Feeding difficulties in infancy
ORPHANET:1465	SOX11	6664	HP:0005280	Depressed nasal bridge
ORPHANET:1465	SOX11	6664	HP:0000457	Depressed nasal ridge
ORPHANET:1465	SOX11	6664	HP:0000965	Cutis marmorata
ORPHANET:1465	SOX11	6664	HP:0003298	Spina bifida occulta
ORPHANET:1465	SOX11	6664	HP:0000499	Abnormality of the eyelashes
ORPHANET:1465	SOX11	6664	HP:0100543	Cognitive impairment
ORPHANET:1465	SOX11	6664	HP:0000365	Hearing impairment
ORPHANET:1465	SOX11	6664	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1465	SOX11	6664	HP:0000154	Wide mouth
ORPHANET:1465	SOX11	6664	HP:0000322	Short philtrum
ORPHANET:1465	SOX11	6664	HP:0000486	Strabismus
ORPHANET:1465	SOX11	6664	HP:0002217	Slow-growing hair
ORPHANET:1465	SOX11	6664	HP:0000574	Thick eyebrow
ORPHANET:1465	SOX11	6664	HP:0001382	Joint hypermobility
ORPHANET:1465	SOX11	6664	HP:0000508	Ptosis
ORPHANET:1465	SOX11	6664	HP:0000632	Lacrimation abnormality
ORPHANET:1465	SOX11	6664	HP:0001798	Anonychia
ORPHANET:1465	SOX11	6664	HP:0003042	Elbow dislocation
ORPHANET:1465	SOX11	6664	HP:0100542	Abnormal localization of kidney
ORPHANET:1465	SOX11	6664	HP:0002205	Recurrent respiratory infections
ORPHANET:1465	SOX11	6664	HP:0003272	Abnormality of the hip bone
ORPHANET:1465	SOX11	6664	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:1465	SOX11	6664	HP:0000164	Abnormality of the teeth
ORPHANET:1465	SOX11	6664	HP:0002808	Kyphosis
ORPHANET:1465	SOX11	6664	HP:0000954	Single transverse palmar crease
ORPHANET:1465	SOX11	6664	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1465	SOX11	6664	HP:0000175	Cleft palate
ORPHANET:1465	SOX11	6664	HP:0000518	Cataract
ORPHANET:1465	SOX11	6664	HP:0004322	Short stature
ORPHANET:1465	SOX11	6664	HP:0000889	Abnormality of the clavicle
ORPHANET:1465	SOX11	6664	HP:0000179	Thick lower lip vermilion
ORPHANET:1465	SOX11	6664	HP:0000028	Cryptorchidism
ORPHANET:1465	SOX11	6664	HP:0002650	Scoliosis
ORPHANET:1465	SOX11	6664	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:1465	SOX11	6664	HP:0000280	Coarse facial features
ORPHANET:1465	SOX11	6664	HP:0001252	Muscular hypotonia
ORPHANET:1465	SOX11	6664	HP:0000286	Epicanthus
ORPHANET:1465	SOX11	6664	HP:0006443	Patellar aplasia
ORPHANET:1465	SOX11	6664	HP:0001511	Intrauterine growth retardation
ORPHANET:1465	SOX11	6664	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:1465	SOX11	6664	HP:0000252	Microcephaly
ORPHANET:1465	SOX11	6664	HP:0000639	Nystagmus
ORPHANET:1465	SOX11	6664	HP:0000998	Hypertrichosis
ORPHANET:1465	SOX11	6664	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:1465	SOX11	6664	HP:0001305	Dandy-Walker malformation
ORPHANET:1465	SOX11	6664	HP:0009882	Short distal phalanx of finger
ORPHANET:1465	SOX11	6664	HP:0001250	Seizures
ORPHANET:1465	SOX11	6664	HP:0008872	Feeding difficulties in infancy
ORPHANET:1465	SMARCE1	6605	HP:0005280	Depressed nasal bridge
ORPHANET:1465	SMARCE1	6605	HP:0000457	Depressed nasal ridge
ORPHANET:1465	SMARCE1	6605	HP:0000965	Cutis marmorata
ORPHANET:1465	SMARCE1	6605	HP:0003298	Spina bifida occulta
ORPHANET:1465	SMARCE1	6605	HP:0000499	Abnormality of the eyelashes
ORPHANET:1465	SMARCE1	6605	HP:0100543	Cognitive impairment
ORPHANET:1465	SMARCE1	6605	HP:0000365	Hearing impairment
ORPHANET:1465	SMARCE1	6605	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1465	SMARCE1	6605	HP:0000154	Wide mouth
ORPHANET:1465	SMARCE1	6605	HP:0000322	Short philtrum
ORPHANET:1465	SMARCE1	6605	HP:0000486	Strabismus
ORPHANET:1465	SMARCE1	6605	HP:0002217	Slow-growing hair
ORPHANET:1465	SMARCE1	6605	HP:0000574	Thick eyebrow
ORPHANET:1465	SMARCE1	6605	HP:0001382	Joint hypermobility
ORPHANET:1465	SMARCE1	6605	HP:0000508	Ptosis
ORPHANET:1465	SMARCE1	6605	HP:0000632	Lacrimation abnormality
ORPHANET:1465	SMARCE1	6605	HP:0001798	Anonychia
ORPHANET:1465	SMARCE1	6605	HP:0003042	Elbow dislocation
ORPHANET:1465	SMARCE1	6605	HP:0100542	Abnormal localization of kidney
ORPHANET:1465	SMARCE1	6605	HP:0002205	Recurrent respiratory infections
ORPHANET:1465	SMARCE1	6605	HP:0003272	Abnormality of the hip bone
ORPHANET:1465	SMARCE1	6605	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:1465	SMARCE1	6605	HP:0000164	Abnormality of the teeth
ORPHANET:1465	SMARCE1	6605	HP:0002808	Kyphosis
ORPHANET:1465	SMARCE1	6605	HP:0000954	Single transverse palmar crease
ORPHANET:1465	SMARCE1	6605	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1465	SMARCE1	6605	HP:0000175	Cleft palate
ORPHANET:1465	SMARCE1	6605	HP:0000518	Cataract
ORPHANET:1465	SMARCE1	6605	HP:0004322	Short stature
ORPHANET:1465	SMARCE1	6605	HP:0000889	Abnormality of the clavicle
ORPHANET:1465	SMARCE1	6605	HP:0000179	Thick lower lip vermilion
ORPHANET:1465	SMARCE1	6605	HP:0000028	Cryptorchidism
ORPHANET:1465	SMARCE1	6605	HP:0002650	Scoliosis
ORPHANET:1465	SMARCE1	6605	HP:0005108	Abnormality of the intervertebral disk
ORPHANET:1465	SMARCE1	6605	HP:0000280	Coarse facial features
ORPHANET:1465	SMARCE1	6605	HP:0001252	Muscular hypotonia
ORPHANET:1465	SMARCE1	6605	HP:0000286	Epicanthus
ORPHANET:1465	SMARCE1	6605	HP:0006443	Patellar aplasia
ORPHANET:1465	SMARCE1	6605	HP:0001511	Intrauterine growth retardation
ORPHANET:1465	SMARCE1	6605	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:1465	SMARCE1	6605	HP:0000252	Microcephaly
ORPHANET:1465	SMARCE1	6605	HP:0000639	Nystagmus
ORPHANET:1465	SMARCE1	6605	HP:0000998	Hypertrichosis
ORPHANET:1465	SMARCE1	6605	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:1465	SMARCE1	6605	HP:0001305	Dandy-Walker malformation
ORPHANET:1465	SMARCE1	6605	HP:0009882	Short distal phalanx of finger
ORPHANET:1465	SMARCE1	6605	HP:0001250	Seizures
ORPHANET:1465	SMARCE1	6605	HP:0008872	Feeding difficulties in infancy
OMIM:266510	PEX19	5824	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX19	5824	HP:0000939	Osteoporosis
OMIM:266510	PEX19	5824	HP:0001999	Abnormal facial shape
OMIM:266510	PEX19	5824	HP:0000272	Malar flattening
OMIM:266510	PEX19	5824	HP:0001892	Abnormal bleeding
OMIM:266510	PEX19	5824	HP:0002570	Steatorrhea
OMIM:266510	PEX19	5824	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX19	5824	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX19	5824	HP:0001271	Polyneuropathy
OMIM:266510	PEX19	5824	HP:0003577	Congenital onset
OMIM:266510	PEX19	5824	HP:0012368	Flat face
OMIM:266510	PEX19	5824	HP:0001252	Muscular hypotonia
OMIM:266510	PEX19	5824	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX19	5824	HP:0001508	Failure to thrive
OMIM:266510	PEX19	5824	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX19	5824	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX19	5824	HP:0001265	Hyporeflexia
OMIM:266510	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX19	5824	HP:0001263	Global developmental delay
OMIM:266510	PEX19	5824	HP:0001249	Intellectual disability
OMIM:266510	PEX19	5824	HP:0002240	Hepatomegaly
OMIM:266510	PEX16	9409	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX16	9409	HP:0000939	Osteoporosis
OMIM:266510	PEX16	9409	HP:0001999	Abnormal facial shape
OMIM:266510	PEX16	9409	HP:0000272	Malar flattening
OMIM:266510	PEX16	9409	HP:0001892	Abnormal bleeding
OMIM:266510	PEX16	9409	HP:0002570	Steatorrhea
OMIM:266510	PEX16	9409	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX16	9409	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX16	9409	HP:0001271	Polyneuropathy
OMIM:266510	PEX16	9409	HP:0003577	Congenital onset
OMIM:266510	PEX16	9409	HP:0012368	Flat face
OMIM:266510	PEX16	9409	HP:0001252	Muscular hypotonia
OMIM:266510	PEX16	9409	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX16	9409	HP:0001508	Failure to thrive
OMIM:266510	PEX16	9409	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX16	9409	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX16	9409	HP:0001265	Hyporeflexia
OMIM:266510	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX16	9409	HP:0001263	Global developmental delay
OMIM:266510	PEX16	9409	HP:0001249	Intellectual disability
OMIM:266510	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:266510	PEX2	5828	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX2	5828	HP:0000939	Osteoporosis
OMIM:266510	PEX2	5828	HP:0001999	Abnormal facial shape
OMIM:266510	PEX2	5828	HP:0000272	Malar flattening
OMIM:266510	PEX2	5828	HP:0001892	Abnormal bleeding
OMIM:266510	PEX2	5828	HP:0002570	Steatorrhea
OMIM:266510	PEX2	5828	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX2	5828	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX2	5828	HP:0001271	Polyneuropathy
OMIM:266510	PEX2	5828	HP:0003577	Congenital onset
OMIM:266510	PEX2	5828	HP:0012368	Flat face
OMIM:266510	PEX2	5828	HP:0001252	Muscular hypotonia
OMIM:266510	PEX2	5828	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX2	5828	HP:0001508	Failure to thrive
OMIM:266510	PEX2	5828	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX2	5828	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX2	5828	HP:0001265	Hyporeflexia
OMIM:266510	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX2	5828	HP:0001263	Global developmental delay
OMIM:266510	PEX2	5828	HP:0001249	Intellectual disability
OMIM:266510	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:266510	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX1	5189	HP:0000939	Osteoporosis
OMIM:266510	PEX1	5189	HP:0001999	Abnormal facial shape
OMIM:266510	PEX1	5189	HP:0000272	Malar flattening
OMIM:266510	PEX1	5189	HP:0001892	Abnormal bleeding
OMIM:266510	PEX1	5189	HP:0002570	Steatorrhea
OMIM:266510	PEX1	5189	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX1	5189	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX1	5189	HP:0001271	Polyneuropathy
OMIM:266510	PEX1	5189	HP:0003577	Congenital onset
OMIM:266510	PEX1	5189	HP:0012368	Flat face
OMIM:266510	PEX1	5189	HP:0001252	Muscular hypotonia
OMIM:266510	PEX1	5189	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX1	5189	HP:0001508	Failure to thrive
OMIM:266510	PEX1	5189	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX1	5189	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX1	5189	HP:0001265	Hyporeflexia
OMIM:266510	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX1	5189	HP:0001263	Global developmental delay
OMIM:266510	PEX1	5189	HP:0001249	Intellectual disability
OMIM:266510	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:266510	PEX5	5830	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX5	5830	HP:0000939	Osteoporosis
OMIM:266510	PEX5	5830	HP:0001999	Abnormal facial shape
OMIM:266510	PEX5	5830	HP:0000272	Malar flattening
OMIM:266510	PEX5	5830	HP:0001892	Abnormal bleeding
OMIM:266510	PEX5	5830	HP:0002570	Steatorrhea
OMIM:266510	PEX5	5830	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX5	5830	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX5	5830	HP:0001271	Polyneuropathy
OMIM:266510	PEX5	5830	HP:0003577	Congenital onset
OMIM:266510	PEX5	5830	HP:0012368	Flat face
OMIM:266510	PEX5	5830	HP:0001252	Muscular hypotonia
OMIM:266510	PEX5	5830	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX5	5830	HP:0001508	Failure to thrive
OMIM:266510	PEX5	5830	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX5	5830	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX5	5830	HP:0001265	Hyporeflexia
OMIM:266510	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX5	5830	HP:0001263	Global developmental delay
OMIM:266510	PEX5	5830	HP:0001249	Intellectual disability
OMIM:266510	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:266510	PEX6	5190	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX6	5190	HP:0000939	Osteoporosis
OMIM:266510	PEX6	5190	HP:0001999	Abnormal facial shape
OMIM:266510	PEX6	5190	HP:0000272	Malar flattening
OMIM:266510	PEX6	5190	HP:0001892	Abnormal bleeding
OMIM:266510	PEX6	5190	HP:0002570	Steatorrhea
OMIM:266510	PEX6	5190	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX6	5190	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX6	5190	HP:0001271	Polyneuropathy
OMIM:266510	PEX6	5190	HP:0003577	Congenital onset
OMIM:266510	PEX6	5190	HP:0012368	Flat face
OMIM:266510	PEX6	5190	HP:0001252	Muscular hypotonia
OMIM:266510	PEX6	5190	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX6	5190	HP:0001508	Failure to thrive
OMIM:266510	PEX6	5190	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX6	5190	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX6	5190	HP:0001265	Hyporeflexia
OMIM:266510	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX6	5190	HP:0001263	Global developmental delay
OMIM:266510	PEX6	5190	HP:0001249	Intellectual disability
OMIM:266510	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:266510	PEX10	5192	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX10	5192	HP:0000939	Osteoporosis
OMIM:266510	PEX10	5192	HP:0001999	Abnormal facial shape
OMIM:266510	PEX10	5192	HP:0000272	Malar flattening
OMIM:266510	PEX10	5192	HP:0001892	Abnormal bleeding
OMIM:266510	PEX10	5192	HP:0002570	Steatorrhea
OMIM:266510	PEX10	5192	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX10	5192	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX10	5192	HP:0001271	Polyneuropathy
OMIM:266510	PEX10	5192	HP:0003577	Congenital onset
OMIM:266510	PEX10	5192	HP:0012368	Flat face
OMIM:266510	PEX10	5192	HP:0001252	Muscular hypotonia
OMIM:266510	PEX10	5192	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX10	5192	HP:0001508	Failure to thrive
OMIM:266510	PEX10	5192	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX10	5192	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX10	5192	HP:0001265	Hyporeflexia
OMIM:266510	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX10	5192	HP:0001263	Global developmental delay
OMIM:266510	PEX10	5192	HP:0001249	Intellectual disability
OMIM:266510	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:266510	PEX12	5193	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX12	5193	HP:0000939	Osteoporosis
OMIM:266510	PEX12	5193	HP:0001999	Abnormal facial shape
OMIM:266510	PEX12	5193	HP:0000272	Malar flattening
OMIM:266510	PEX12	5193	HP:0001892	Abnormal bleeding
OMIM:266510	PEX12	5193	HP:0002570	Steatorrhea
OMIM:266510	PEX12	5193	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX12	5193	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX12	5193	HP:0001271	Polyneuropathy
OMIM:266510	PEX12	5193	HP:0003577	Congenital onset
OMIM:266510	PEX12	5193	HP:0012368	Flat face
OMIM:266510	PEX12	5193	HP:0001252	Muscular hypotonia
OMIM:266510	PEX12	5193	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX12	5193	HP:0001508	Failure to thrive
OMIM:266510	PEX12	5193	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX12	5193	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX12	5193	HP:0001265	Hyporeflexia
OMIM:266510	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX12	5193	HP:0001263	Global developmental delay
OMIM:266510	PEX12	5193	HP:0001249	Intellectual disability
OMIM:266510	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:266510	PEX13	5194	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX13	5194	HP:0000939	Osteoporosis
OMIM:266510	PEX13	5194	HP:0001999	Abnormal facial shape
OMIM:266510	PEX13	5194	HP:0000272	Malar flattening
OMIM:266510	PEX13	5194	HP:0001892	Abnormal bleeding
OMIM:266510	PEX13	5194	HP:0002570	Steatorrhea
OMIM:266510	PEX13	5194	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX13	5194	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX13	5194	HP:0001271	Polyneuropathy
OMIM:266510	PEX13	5194	HP:0003577	Congenital onset
OMIM:266510	PEX13	5194	HP:0012368	Flat face
OMIM:266510	PEX13	5194	HP:0001252	Muscular hypotonia
OMIM:266510	PEX13	5194	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX13	5194	HP:0001508	Failure to thrive
OMIM:266510	PEX13	5194	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX13	5194	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX13	5194	HP:0001265	Hyporeflexia
OMIM:266510	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX13	5194	HP:0001263	Global developmental delay
OMIM:266510	PEX13	5194	HP:0001249	Intellectual disability
OMIM:266510	PEX13	5194	HP:0002240	Hepatomegaly
OMIM:266510	PEX14	5195	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX14	5195	HP:0000939	Osteoporosis
OMIM:266510	PEX14	5195	HP:0001999	Abnormal facial shape
OMIM:266510	PEX14	5195	HP:0000272	Malar flattening
OMIM:266510	PEX14	5195	HP:0001892	Abnormal bleeding
OMIM:266510	PEX14	5195	HP:0002570	Steatorrhea
OMIM:266510	PEX14	5195	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX14	5195	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX14	5195	HP:0001271	Polyneuropathy
OMIM:266510	PEX14	5195	HP:0003577	Congenital onset
OMIM:266510	PEX14	5195	HP:0012368	Flat face
OMIM:266510	PEX14	5195	HP:0001252	Muscular hypotonia
OMIM:266510	PEX14	5195	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX14	5195	HP:0001508	Failure to thrive
OMIM:266510	PEX14	5195	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX14	5195	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX14	5195	HP:0001265	Hyporeflexia
OMIM:266510	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX14	5195	HP:0001263	Global developmental delay
OMIM:266510	PEX14	5195	HP:0001249	Intellectual disability
OMIM:266510	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:266510	PEX26	55670	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX26	55670	HP:0000939	Osteoporosis
OMIM:266510	PEX26	55670	HP:0001999	Abnormal facial shape
OMIM:266510	PEX26	55670	HP:0000272	Malar flattening
OMIM:266510	PEX26	55670	HP:0001892	Abnormal bleeding
OMIM:266510	PEX26	55670	HP:0002570	Steatorrhea
OMIM:266510	PEX26	55670	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX26	55670	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX26	55670	HP:0001271	Polyneuropathy
OMIM:266510	PEX26	55670	HP:0003577	Congenital onset
OMIM:266510	PEX26	55670	HP:0012368	Flat face
OMIM:266510	PEX26	55670	HP:0001252	Muscular hypotonia
OMIM:266510	PEX26	55670	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX26	55670	HP:0001508	Failure to thrive
OMIM:266510	PEX26	55670	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX26	55670	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX26	55670	HP:0001265	Hyporeflexia
OMIM:266510	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX26	55670	HP:0001263	Global developmental delay
OMIM:266510	PEX26	55670	HP:0001249	Intellectual disability
OMIM:266510	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:266510	PEX3	8504	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX3	8504	HP:0000939	Osteoporosis
OMIM:266510	PEX3	8504	HP:0001999	Abnormal facial shape
OMIM:266510	PEX3	8504	HP:0000272	Malar flattening
OMIM:266510	PEX3	8504	HP:0001892	Abnormal bleeding
OMIM:266510	PEX3	8504	HP:0002570	Steatorrhea
OMIM:266510	PEX3	8504	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX3	8504	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX3	8504	HP:0001271	Polyneuropathy
OMIM:266510	PEX3	8504	HP:0003577	Congenital onset
OMIM:266510	PEX3	8504	HP:0012368	Flat face
OMIM:266510	PEX3	8504	HP:0001252	Muscular hypotonia
OMIM:266510	PEX3	8504	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX3	8504	HP:0001508	Failure to thrive
OMIM:266510	PEX3	8504	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX3	8504	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX3	8504	HP:0001265	Hyporeflexia
OMIM:266510	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX3	8504	HP:0001263	Global developmental delay
OMIM:266510	PEX3	8504	HP:0001249	Intellectual disability
OMIM:266510	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:266510	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
OMIM:266510	PEX11B	8799	HP:0000939	Osteoporosis
OMIM:266510	PEX11B	8799	HP:0001999	Abnormal facial shape
OMIM:266510	PEX11B	8799	HP:0000272	Malar flattening
OMIM:266510	PEX11B	8799	HP:0001892	Abnormal bleeding
OMIM:266510	PEX11B	8799	HP:0002570	Steatorrhea
OMIM:266510	PEX11B	8799	HP:0000510	Rod-cone dystrophy
OMIM:266510	PEX11B	8799	HP:0003146	Hypocholesterolemia
OMIM:266510	PEX11B	8799	HP:0001271	Polyneuropathy
OMIM:266510	PEX11B	8799	HP:0003577	Congenital onset
OMIM:266510	PEX11B	8799	HP:0012368	Flat face
OMIM:266510	PEX11B	8799	HP:0001252	Muscular hypotonia
OMIM:266510	PEX11B	8799	HP:0000512	Abnormal electroretinogram
OMIM:266510	PEX11B	8799	HP:0001508	Failure to thrive
OMIM:266510	PEX11B	8799	HP:0000457	Depressed nasal ridge
OMIM:266510	PEX11B	8799	HP:0000954	Single transverse palmar crease
OMIM:266510	PEX11B	8799	HP:0001265	Hyporeflexia
OMIM:266510	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:266510	PEX11B	8799	HP:0001263	Global developmental delay
OMIM:266510	PEX11B	8799	HP:0001249	Intellectual disability
OMIM:266510	PEX11B	8799	HP:0002240	Hepatomegaly
OMIM:616589	NOTCH1	4851	HP:0001156	Brachydactyly syndrome
OMIM:616589	NOTCH1	4851	HP:0001660	Truncus arteriosus
OMIM:616589	NOTCH1	4851	HP:0001395	Hepatic fibrosis
OMIM:616589	NOTCH1	4851	HP:0001159	Syndactyly
OMIM:616589	NOTCH1	4851	HP:0000965	Cutis marmorata
OMIM:616589	NOTCH1	4851	HP:0005180	Tricuspid regurgitation
OMIM:616589	NOTCH1	4851	HP:0001409	Portal hypertension
OMIM:616589	NOTCH1	4851	HP:0001800	Hypoplastic toenails
OMIM:616589	NOTCH1	4851	HP:0001629	Ventricular septal defect
OMIM:616589	NOTCH1	4851	HP:0000089	Renal hypoplasia
OMIM:616589	DOCK6	57572	HP:0001156	Brachydactyly syndrome
OMIM:616589	DOCK6	57572	HP:0001660	Truncus arteriosus
OMIM:616589	DOCK6	57572	HP:0001395	Hepatic fibrosis
OMIM:616589	DOCK6	57572	HP:0001159	Syndactyly
OMIM:616589	DOCK6	57572	HP:0000965	Cutis marmorata
OMIM:616589	DOCK6	57572	HP:0005180	Tricuspid regurgitation
OMIM:616589	DOCK6	57572	HP:0001409	Portal hypertension
OMIM:616589	DOCK6	57572	HP:0001800	Hypoplastic toenails
OMIM:616589	DOCK6	57572	HP:0001629	Ventricular septal defect
OMIM:616589	DOCK6	57572	HP:0000089	Renal hypoplasia
OMIM:616589	EOGT	285203	HP:0001156	Brachydactyly syndrome
OMIM:616589	EOGT	285203	HP:0001660	Truncus arteriosus
OMIM:616589	EOGT	285203	HP:0001395	Hepatic fibrosis
OMIM:616589	EOGT	285203	HP:0001159	Syndactyly
OMIM:616589	EOGT	285203	HP:0000965	Cutis marmorata
OMIM:616589	EOGT	285203	HP:0005180	Tricuspid regurgitation
OMIM:616589	EOGT	285203	HP:0001409	Portal hypertension
OMIM:616589	EOGT	285203	HP:0001800	Hypoplastic toenails
OMIM:616589	EOGT	285203	HP:0001629	Ventricular septal defect
OMIM:616589	EOGT	285203	HP:0000089	Renal hypoplasia
OMIM:616589	DLL4	54567	HP:0001156	Brachydactyly syndrome
OMIM:616589	DLL4	54567	HP:0001660	Truncus arteriosus
OMIM:616589	DLL4	54567	HP:0001395	Hepatic fibrosis
OMIM:616589	DLL4	54567	HP:0001159	Syndactyly
OMIM:616589	DLL4	54567	HP:0000965	Cutis marmorata
OMIM:616589	DLL4	54567	HP:0005180	Tricuspid regurgitation
OMIM:616589	DLL4	54567	HP:0001409	Portal hypertension
OMIM:616589	DLL4	54567	HP:0001800	Hypoplastic toenails
OMIM:616589	DLL4	54567	HP:0001629	Ventricular septal defect
OMIM:616589	DLL4	54567	HP:0000089	Renal hypoplasia
OMIM:616589	ARHGAP31	57514	HP:0001156	Brachydactyly syndrome
OMIM:616589	ARHGAP31	57514	HP:0001660	Truncus arteriosus
OMIM:616589	ARHGAP31	57514	HP:0001395	Hepatic fibrosis
OMIM:616589	ARHGAP31	57514	HP:0001159	Syndactyly
OMIM:616589	ARHGAP31	57514	HP:0000965	Cutis marmorata
OMIM:616589	ARHGAP31	57514	HP:0005180	Tricuspid regurgitation
OMIM:616589	ARHGAP31	57514	HP:0001409	Portal hypertension
OMIM:616589	ARHGAP31	57514	HP:0001800	Hypoplastic toenails
OMIM:616589	ARHGAP31	57514	HP:0001629	Ventricular septal defect
OMIM:616589	ARHGAP31	57514	HP:0000089	Renal hypoplasia
OMIM:616589	RBPJ	3516	HP:0001156	Brachydactyly syndrome
OMIM:616589	RBPJ	3516	HP:0001660	Truncus arteriosus
OMIM:616589	RBPJ	3516	HP:0001395	Hepatic fibrosis
OMIM:616589	RBPJ	3516	HP:0001159	Syndactyly
OMIM:616589	RBPJ	3516	HP:0000965	Cutis marmorata
OMIM:616589	RBPJ	3516	HP:0005180	Tricuspid regurgitation
OMIM:616589	RBPJ	3516	HP:0001409	Portal hypertension
OMIM:616589	RBPJ	3516	HP:0001800	Hypoplastic toenails
OMIM:616589	RBPJ	3516	HP:0001629	Ventricular septal defect
OMIM:616589	RBPJ	3516	HP:0000089	Renal hypoplasia
OMIM:240800	ABCC8	6833	HP:0000486	Strabismus
OMIM:240800	ABCC8	6833	HP:0001257	Spasticity
OMIM:240800	ABCC8	6833	HP:0001347	Hyperreflexia
OMIM:240800	ABCC8	6833	HP:0000007	Autosomal recessive inheritance
OMIM:240800	ABCC8	6833	HP:0001251	Ataxia
OMIM:240800	ABCC8	6833	HP:0001249	Intellectual disability
OMIM:240800	ABCC8	6833	HP:0001259	Coma
OMIM:240800	ABCC8	6833	HP:0000737	Irritability
OMIM:240800	ABCC8	6833	HP:0001943	Hypoglycemia
OMIM:240800	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:243500	IVD	3712	HP:0001263	Global developmental delay
OMIM:243500	IVD	3712	HP:0001942	Metabolic acidosis
OMIM:243500	IVD	3712	HP:0000007	Autosomal recessive inheritance
OMIM:243500	IVD	3712	HP:0001944	Dehydration
OMIM:243500	IVD	3712	HP:0001882	Leukopenia
OMIM:243500	IVD	3712	HP:0001993	Ketoacidosis
OMIM:243500	IVD	3712	HP:0100543	Cognitive impairment
OMIM:243500	IVD	3712	HP:0001873	Thrombocytopenia
OMIM:243500	IVD	3712	HP:0001876	Pancytopenia
OMIM:243500	IVD	3712	HP:0001259	Coma
OMIM:243500	IVD	3712	HP:0003108	Hyperglycinuria
OMIM:243500	IVD	3712	HP:0011695	Cerebellar hemorrhage
OMIM:243500	IVD	3712	HP:0001254	Lethargy
OMIM:243500	IVD	3712	HP:0001250	Seizures
OMIM:243500	IVD	3712	HP:0003355	Aminoaciduria
OMIM:243500	IVD	3712	HP:0005528	Bone marrow hypocellularity
OMIM:243500	IVD	3712	HP:0002013	Vomiting
OMIM:613571	POR	5447	HP:0003154	Increased circulating ACTH level
OMIM:613571	POR	5447	HP:0000062	Ambiguous genitalia
OMIM:613571	POR	5447	HP:0000007	Autosomal recessive inheritance
OMIM:607483	SLC19A3	80704	HP:0001259	Coma
OMIM:607483	SLC19A3	80704	HP:0000639	Nystagmus
OMIM:607483	SLC19A3	80704	HP:0000737	Irritability
OMIM:607483	SLC19A3	80704	HP:0001260	Dysarthria
OMIM:607483	SLC19A3	80704	HP:0002066	Gait ataxia
OMIM:607483	SLC19A3	80704	HP:0001250	Seizures
OMIM:607483	SLC19A3	80704	HP:0000544	External ophthalmoplegia
OMIM:607483	SLC19A3	80704	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:607483	SLC19A3	80704	HP:0002134	Abnormality of the basal ganglia
OMIM:607483	SLC19A3	80704	HP:0002385	Paraparesis
OMIM:607483	SLC19A3	80704	HP:0001298	Encephalopathy
OMIM:607483	SLC19A3	80704	HP:0002015	Dysphagia
OMIM:607483	SLC19A3	80704	HP:0000007	Autosomal recessive inheritance
OMIM:607483	SLC19A3	80704	HP:0003487	Babinski sign
OMIM:607483	SLC19A3	80704	HP:0002063	Rigidity
OMIM:607483	SLC19A3	80704	HP:0001263	Global developmental delay
OMIM:607483	SLC19A3	80704	HP:0012179	Craniofacial dystonia
OMIM:607483	SLC19A3	80704	HP:0003621	Juvenile onset
OMIM:607483	SLC19A3	80704	HP:0001945	Fever
OMIM:607483	SLC19A3	80704	HP:0008936	Muscular hypotonia of the trunk
OMIM:607483	SLC19A3	80704	HP:0000508	Ptosis
OMIM:607483	SLC19A3	80704	HP:0002540	Inability to walk
OMIM:312060	CFP	5199	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:312060	CFP	5199	HP:0001419	X-linked recessive inheritance
OMIM:180800	PMP22	5376	HP:0002460	Distal muscle weakness
OMIM:180800	PMP22	5376	HP:0003677	Slow progression
OMIM:180800	PMP22	5376	HP:0001270	Motor delay
OMIM:180800	PMP22	5376	HP:0001288	Gait disturbance
OMIM:180800	PMP22	5376	HP:0003383	Onion bulb formation
OMIM:180800	PMP22	5376	HP:0001265	Hyporeflexia
OMIM:180800	PMP22	5376	HP:0002936	Distal sensory impairment
OMIM:180800	PMP22	5376	HP:0000006	Autosomal dominant inheritance
OMIM:180800	PMP22	5376	HP:0002715	Abnormality of the immune system
OMIM:180800	PMP22	5376	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:180800	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
OMIM:180800	PMP22	5376	HP:0002751	Kyphoscoliosis
OMIM:180800	PMP22	5376	HP:0001765	Hammertoe
OMIM:180800	PMP22	5376	HP:0003693	Distal amyotrophy
OMIM:180800	PMP22	5376	HP:0001761	Pes cavus
OMIM:180800	PMP22	5376	HP:0001284	Areflexia
OMIM:180800	PMP22	5376	HP:0001315	Reduced tendon reflexes
OMIM:180800	PMP22	5376	HP:0000762	Decreased nerve conduction velocity
OMIM:180800	PMP22	5376	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:180800	PMP22	5376	HP:0002066	Gait ataxia
OMIM:180800	PMP22	5376	HP:0003621	Juvenile onset
OMIM:180800	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:180800	MPZ	4359	HP:0003677	Slow progression
OMIM:180800	MPZ	4359	HP:0001270	Motor delay
OMIM:180800	MPZ	4359	HP:0001288	Gait disturbance
OMIM:180800	MPZ	4359	HP:0003383	Onion bulb formation
OMIM:180800	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:180800	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:180800	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:180800	MPZ	4359	HP:0002715	Abnormality of the immune system
OMIM:180800	MPZ	4359	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:180800	MPZ	4359	HP:0003431	Decreased motor nerve conduction velocity
OMIM:180800	MPZ	4359	HP:0002751	Kyphoscoliosis
OMIM:180800	MPZ	4359	HP:0001765	Hammertoe
OMIM:180800	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:180800	MPZ	4359	HP:0001761	Pes cavus
OMIM:180800	MPZ	4359	HP:0001284	Areflexia
OMIM:180800	MPZ	4359	HP:0001315	Reduced tendon reflexes
OMIM:180800	MPZ	4359	HP:0000762	Decreased nerve conduction velocity
OMIM:180800	MPZ	4359	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:180800	MPZ	4359	HP:0002066	Gait ataxia
OMIM:180800	MPZ	4359	HP:0003621	Juvenile onset
OMIM:612069	TREM2	54209	HP:0001257	Spasticity
OMIM:612069	TREM2	54209	HP:0003202	Skeletal muscle atrophy
OMIM:612069	TREM2	54209	HP:0003487	Babinski sign
OMIM:612069	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	TREM2	54209	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:612069	TREM2	54209	HP:0000712	Emotional lability
OMIM:612069	TREM2	54209	HP:0001260	Dysarthria
OMIM:612069	TREM2	54209	HP:0003678	Rapidly progressive
OMIM:612069	TREM2	54209	HP:0000733	Stereotypic behavior
OMIM:612069	TREM2	54209	HP:0000741	Apathy
OMIM:612069	TREM2	54209	HP:0002015	Dysphagia
OMIM:612069	VAPB	9217	HP:0001257	Spasticity
OMIM:612069	VAPB	9217	HP:0003202	Skeletal muscle atrophy
OMIM:612069	VAPB	9217	HP:0003487	Babinski sign
OMIM:612069	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	VAPB	9217	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:612069	VAPB	9217	HP:0000712	Emotional lability
OMIM:612069	VAPB	9217	HP:0001260	Dysarthria
OMIM:612069	VAPB	9217	HP:0003678	Rapidly progressive
OMIM:612069	VAPB	9217	HP:0000733	Stereotypic behavior
OMIM:612069	VAPB	9217	HP:0000741	Apathy
OMIM:612069	VAPB	9217	HP:0002015	Dysphagia
OMIM:612069	PON1	5444	HP:0001257	Spasticity
OMIM:612069	PON1	5444	HP:0003202	Skeletal muscle atrophy
OMIM:612069	PON1	5444	HP:0003487	Babinski sign
OMIM:612069	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	PON1	5444	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:612069	PON1	5444	HP:0000712	Emotional lability
OMIM:612069	PON1	5444	HP:0001260	Dysarthria
OMIM:612069	PON1	5444	HP:0003678	Rapidly progressive
OMIM:612069	PON1	5444	HP:0000733	Stereotypic behavior
OMIM:612069	PON1	5444	HP:0000741	Apathy
OMIM:612069	PON1	5444	HP:0002015	Dysphagia
OMIM:612069	PON2	5445	HP:0001257	Spasticity
OMIM:612069	PON2	5445	HP:0003202	Skeletal muscle atrophy
OMIM:612069	PON2	5445	HP:0003487	Babinski sign
OMIM:612069	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	PON2	5445	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:612069	PON2	5445	HP:0000712	Emotional lability
OMIM:612069	PON2	5445	HP:0001260	Dysarthria
OMIM:612069	PON2	5445	HP:0003678	Rapidly progressive
OMIM:612069	PON2	5445	HP:0000733	Stereotypic behavior
OMIM:612069	PON2	5445	HP:0000741	Apathy
OMIM:612069	PON2	5445	HP:0002015	Dysphagia
OMIM:612069	PON3	5446	HP:0001257	Spasticity
OMIM:612069	PON3	5446	HP:0003202	Skeletal muscle atrophy
OMIM:612069	PON3	5446	HP:0003487	Babinski sign
OMIM:612069	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	PON3	5446	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:612069	PON3	5446	HP:0000712	Emotional lability
OMIM:612069	PON3	5446	HP:0001260	Dysarthria
OMIM:612069	PON3	5446	HP:0003678	Rapidly progressive
OMIM:612069	PON3	5446	HP:0000733	Stereotypic behavior
OMIM:612069	PON3	5446	HP:0000741	Apathy
OMIM:612069	PON3	5446	HP:0002015	Dysphagia
OMIM:612069	NEFH	4744	HP:0001257	Spasticity
OMIM:612069	NEFH	4744	HP:0003202	Skeletal muscle atrophy
OMIM:612069	NEFH	4744	HP:0003487	Babinski sign
OMIM:612069	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	NEFH	4744	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:612069	NEFH	4744	HP:0000712	Emotional lability
OMIM:612069	NEFH	4744	HP:0001260	Dysarthria
OMIM:612069	NEFH	4744	HP:0003678	Rapidly progressive
OMIM:612069	NEFH	4744	HP:0000733	Stereotypic behavior
OMIM:612069	NEFH	4744	HP:0000741	Apathy
OMIM:612069	NEFH	4744	HP:0002015	Dysphagia
OMIM:612069	DAO	1610	HP:0001257	Spasticity
OMIM:612069	DAO	1610	HP:0003202	Skeletal muscle atrophy
OMIM:612069	DAO	1610	HP:0003487	Babinski sign
OMIM:612069	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	DAO	1610	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:612069	DAO	1610	HP:0000712	Emotional lability
OMIM:612069	DAO	1610	HP:0001260	Dysarthria
OMIM:612069	DAO	1610	HP:0003678	Rapidly progressive
OMIM:612069	DAO	1610	HP:0000733	Stereotypic behavior
OMIM:612069	DAO	1610	HP:0000741	Apathy
OMIM:612069	DAO	1610	HP:0002015	Dysphagia
OMIM:612069	TARDBP	23435	HP:0001257	Spasticity
OMIM:612069	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:612069	TARDBP	23435	HP:0003487	Babinski sign
OMIM:612069	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	TARDBP	23435	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:612069	TARDBP	23435	HP:0000712	Emotional lability
OMIM:612069	TARDBP	23435	HP:0001260	Dysarthria
OMIM:612069	TARDBP	23435	HP:0003678	Rapidly progressive
OMIM:612069	TARDBP	23435	HP:0000733	Stereotypic behavior
OMIM:612069	TARDBP	23435	HP:0000741	Apathy
OMIM:612069	TARDBP	23435	HP:0002015	Dysphagia
OMIM:612069	PPARGC1A	10891	HP:0001257	Spasticity
OMIM:612069	PPARGC1A	10891	HP:0003202	Skeletal muscle atrophy
OMIM:612069	PPARGC1A	10891	HP:0003487	Babinski sign
OMIM:612069	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	PPARGC1A	10891	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:612069	PPARGC1A	10891	HP:0000712	Emotional lability
OMIM:612069	PPARGC1A	10891	HP:0001260	Dysarthria
OMIM:612069	PPARGC1A	10891	HP:0003678	Rapidly progressive
OMIM:612069	PPARGC1A	10891	HP:0000733	Stereotypic behavior
OMIM:612069	PPARGC1A	10891	HP:0000741	Apathy
OMIM:612069	PPARGC1A	10891	HP:0002015	Dysphagia
OMIM:612069	CHCHD10	400916	HP:0001257	Spasticity
OMIM:612069	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
OMIM:612069	CHCHD10	400916	HP:0003487	Babinski sign
OMIM:612069	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	CHCHD10	400916	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:612069	CHCHD10	400916	HP:0000712	Emotional lability
OMIM:612069	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:612069	CHCHD10	400916	HP:0003678	Rapidly progressive
OMIM:612069	CHCHD10	400916	HP:0000733	Stereotypic behavior
OMIM:612069	CHCHD10	400916	HP:0000741	Apathy
OMIM:612069	CHCHD10	400916	HP:0002015	Dysphagia
OMIM:612069	ERBB4	2066	HP:0001257	Spasticity
OMIM:612069	ERBB4	2066	HP:0003202	Skeletal muscle atrophy
OMIM:612069	ERBB4	2066	HP:0003487	Babinski sign
OMIM:612069	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	ERBB4	2066	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:612069	ERBB4	2066	HP:0000712	Emotional lability
OMIM:612069	ERBB4	2066	HP:0001260	Dysarthria
OMIM:612069	ERBB4	2066	HP:0003678	Rapidly progressive
OMIM:612069	ERBB4	2066	HP:0000733	Stereotypic behavior
OMIM:612069	ERBB4	2066	HP:0000741	Apathy
OMIM:612069	ERBB4	2066	HP:0002015	Dysphagia
OMIM:612069	OPTN	10133	HP:0001257	Spasticity
OMIM:612069	OPTN	10133	HP:0003202	Skeletal muscle atrophy
OMIM:612069	OPTN	10133	HP:0003487	Babinski sign
OMIM:612069	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	OPTN	10133	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:612069	OPTN	10133	HP:0000712	Emotional lability
OMIM:612069	OPTN	10133	HP:0001260	Dysarthria
OMIM:612069	OPTN	10133	HP:0003678	Rapidly progressive
OMIM:612069	OPTN	10133	HP:0000733	Stereotypic behavior
OMIM:612069	OPTN	10133	HP:0000741	Apathy
OMIM:612069	OPTN	10133	HP:0002015	Dysphagia
OMIM:612069	FUS	2521	HP:0001257	Spasticity
OMIM:612069	FUS	2521	HP:0003202	Skeletal muscle atrophy
OMIM:612069	FUS	2521	HP:0003487	Babinski sign
OMIM:612069	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	FUS	2521	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:612069	FUS	2521	HP:0000712	Emotional lability
OMIM:612069	FUS	2521	HP:0001260	Dysarthria
OMIM:612069	FUS	2521	HP:0003678	Rapidly progressive
OMIM:612069	FUS	2521	HP:0000733	Stereotypic behavior
OMIM:612069	FUS	2521	HP:0000741	Apathy
OMIM:612069	FUS	2521	HP:0002015	Dysphagia
OMIM:612069	UBQLN2	29978	HP:0001257	Spasticity
OMIM:612069	UBQLN2	29978	HP:0003202	Skeletal muscle atrophy
OMIM:612069	UBQLN2	29978	HP:0003487	Babinski sign
OMIM:612069	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	UBQLN2	29978	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:612069	UBQLN2	29978	HP:0000712	Emotional lability
OMIM:612069	UBQLN2	29978	HP:0001260	Dysarthria
OMIM:612069	UBQLN2	29978	HP:0003678	Rapidly progressive
OMIM:612069	UBQLN2	29978	HP:0000733	Stereotypic behavior
OMIM:612069	UBQLN2	29978	HP:0000741	Apathy
OMIM:612069	UBQLN2	29978	HP:0002015	Dysphagia
OMIM:612069	ANG	283	HP:0001257	Spasticity
OMIM:612069	ANG	283	HP:0003202	Skeletal muscle atrophy
OMIM:612069	ANG	283	HP:0003487	Babinski sign
OMIM:612069	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	ANG	283	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:612069	ANG	283	HP:0000712	Emotional lability
OMIM:612069	ANG	283	HP:0001260	Dysarthria
OMIM:612069	ANG	283	HP:0003678	Rapidly progressive
OMIM:612069	ANG	283	HP:0000733	Stereotypic behavior
OMIM:612069	ANG	283	HP:0000741	Apathy
OMIM:612069	ANG	283	HP:0002015	Dysphagia
OMIM:612069	C9ORF72	203228	HP:0001257	Spasticity
OMIM:612069	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:612069	C9ORF72	203228	HP:0003487	Babinski sign
OMIM:612069	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	C9ORF72	203228	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:612069	C9ORF72	203228	HP:0000712	Emotional lability
OMIM:612069	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:612069	C9ORF72	203228	HP:0003678	Rapidly progressive
OMIM:612069	C9ORF72	203228	HP:0000733	Stereotypic behavior
OMIM:612069	C9ORF72	203228	HP:0000741	Apathy
OMIM:612069	C9ORF72	203228	HP:0002015	Dysphagia
OMIM:612069	PFN1	5216	HP:0001257	Spasticity
OMIM:612069	PFN1	5216	HP:0003202	Skeletal muscle atrophy
OMIM:612069	PFN1	5216	HP:0003487	Babinski sign
OMIM:612069	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	PFN1	5216	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:612069	PFN1	5216	HP:0000712	Emotional lability
OMIM:612069	PFN1	5216	HP:0001260	Dysarthria
OMIM:612069	PFN1	5216	HP:0003678	Rapidly progressive
OMIM:612069	PFN1	5216	HP:0000733	Stereotypic behavior
OMIM:612069	PFN1	5216	HP:0000741	Apathy
OMIM:612069	PFN1	5216	HP:0002015	Dysphagia
OMIM:612069	ATXN2	6311	HP:0001257	Spasticity
OMIM:612069	ATXN2	6311	HP:0003202	Skeletal muscle atrophy
OMIM:612069	ATXN2	6311	HP:0003487	Babinski sign
OMIM:612069	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	ATXN2	6311	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:612069	ATXN2	6311	HP:0000712	Emotional lability
OMIM:612069	ATXN2	6311	HP:0001260	Dysarthria
OMIM:612069	ATXN2	6311	HP:0003678	Rapidly progressive
OMIM:612069	ATXN2	6311	HP:0000733	Stereotypic behavior
OMIM:612069	ATXN2	6311	HP:0000741	Apathy
OMIM:612069	ATXN2	6311	HP:0002015	Dysphagia
OMIM:612069	DCTN1	1639	HP:0001257	Spasticity
OMIM:612069	DCTN1	1639	HP:0003202	Skeletal muscle atrophy
OMIM:612069	DCTN1	1639	HP:0003487	Babinski sign
OMIM:612069	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	DCTN1	1639	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:612069	DCTN1	1639	HP:0000712	Emotional lability
OMIM:612069	DCTN1	1639	HP:0001260	Dysarthria
OMIM:612069	DCTN1	1639	HP:0003678	Rapidly progressive
OMIM:612069	DCTN1	1639	HP:0000733	Stereotypic behavior
OMIM:612069	DCTN1	1639	HP:0000741	Apathy
OMIM:612069	DCTN1	1639	HP:0002015	Dysphagia
OMIM:612069	FIG4	9896	HP:0001257	Spasticity
OMIM:612069	FIG4	9896	HP:0003202	Skeletal muscle atrophy
OMIM:612069	FIG4	9896	HP:0003487	Babinski sign
OMIM:612069	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	FIG4	9896	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:612069	FIG4	9896	HP:0000712	Emotional lability
OMIM:612069	FIG4	9896	HP:0001260	Dysarthria
OMIM:612069	FIG4	9896	HP:0003678	Rapidly progressive
OMIM:612069	FIG4	9896	HP:0000733	Stereotypic behavior
OMIM:612069	FIG4	9896	HP:0000741	Apathy
OMIM:612069	FIG4	9896	HP:0002015	Dysphagia
OMIM:612069	HNRNPA1	3178	HP:0001257	Spasticity
OMIM:612069	HNRNPA1	3178	HP:0003202	Skeletal muscle atrophy
OMIM:612069	HNRNPA1	3178	HP:0003487	Babinski sign
OMIM:612069	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	HNRNPA1	3178	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:612069	HNRNPA1	3178	HP:0000712	Emotional lability
OMIM:612069	HNRNPA1	3178	HP:0001260	Dysarthria
OMIM:612069	HNRNPA1	3178	HP:0003678	Rapidly progressive
OMIM:612069	HNRNPA1	3178	HP:0000733	Stereotypic behavior
OMIM:612069	HNRNPA1	3178	HP:0000741	Apathy
OMIM:612069	HNRNPA1	3178	HP:0002015	Dysphagia
OMIM:612069	SQSTM1	8878	HP:0001257	Spasticity
OMIM:612069	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:612069	SQSTM1	8878	HP:0003487	Babinski sign
OMIM:612069	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	SQSTM1	8878	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:612069	SQSTM1	8878	HP:0000712	Emotional lability
OMIM:612069	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:612069	SQSTM1	8878	HP:0003678	Rapidly progressive
OMIM:612069	SQSTM1	8878	HP:0000733	Stereotypic behavior
OMIM:612069	SQSTM1	8878	HP:0000741	Apathy
OMIM:612069	SQSTM1	8878	HP:0002015	Dysphagia
OMIM:612069	UNC13A	23025	HP:0001257	Spasticity
OMIM:612069	UNC13A	23025	HP:0003202	Skeletal muscle atrophy
OMIM:612069	UNC13A	23025	HP:0003487	Babinski sign
OMIM:612069	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	UNC13A	23025	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:612069	UNC13A	23025	HP:0000712	Emotional lability
OMIM:612069	UNC13A	23025	HP:0001260	Dysarthria
OMIM:612069	UNC13A	23025	HP:0003678	Rapidly progressive
OMIM:612069	UNC13A	23025	HP:0000733	Stereotypic behavior
OMIM:612069	UNC13A	23025	HP:0000741	Apathy
OMIM:612069	UNC13A	23025	HP:0002015	Dysphagia
OMIM:612069	TBK1	29110	HP:0001257	Spasticity
OMIM:612069	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:612069	TBK1	29110	HP:0003487	Babinski sign
OMIM:612069	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	TBK1	29110	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:612069	TBK1	29110	HP:0000712	Emotional lability
OMIM:612069	TBK1	29110	HP:0001260	Dysarthria
OMIM:612069	TBK1	29110	HP:0003678	Rapidly progressive
OMIM:612069	TBK1	29110	HP:0000733	Stereotypic behavior
OMIM:612069	TBK1	29110	HP:0000741	Apathy
OMIM:612069	TBK1	29110	HP:0002015	Dysphagia
OMIM:612069	MATR3	9782	HP:0001257	Spasticity
OMIM:612069	MATR3	9782	HP:0003202	Skeletal muscle atrophy
OMIM:612069	MATR3	9782	HP:0003487	Babinski sign
OMIM:612069	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	MATR3	9782	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:612069	MATR3	9782	HP:0000712	Emotional lability
OMIM:612069	MATR3	9782	HP:0001260	Dysarthria
OMIM:612069	MATR3	9782	HP:0003678	Rapidly progressive
OMIM:612069	MATR3	9782	HP:0000733	Stereotypic behavior
OMIM:612069	MATR3	9782	HP:0000741	Apathy
OMIM:612069	MATR3	9782	HP:0002015	Dysphagia
OMIM:612069	VCP	7415	HP:0001257	Spasticity
OMIM:612069	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:612069	VCP	7415	HP:0003487	Babinski sign
OMIM:612069	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	VCP	7415	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:612069	VCP	7415	HP:0000712	Emotional lability
OMIM:612069	VCP	7415	HP:0001260	Dysarthria
OMIM:612069	VCP	7415	HP:0003678	Rapidly progressive
OMIM:612069	VCP	7415	HP:0000733	Stereotypic behavior
OMIM:612069	VCP	7415	HP:0000741	Apathy
OMIM:612069	VCP	7415	HP:0002015	Dysphagia
OMIM:612069	SOD1	6647	HP:0001257	Spasticity
OMIM:612069	SOD1	6647	HP:0003202	Skeletal muscle atrophy
OMIM:612069	SOD1	6647	HP:0003487	Babinski sign
OMIM:612069	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	SOD1	6647	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:612069	SOD1	6647	HP:0000712	Emotional lability
OMIM:612069	SOD1	6647	HP:0001260	Dysarthria
OMIM:612069	SOD1	6647	HP:0003678	Rapidly progressive
OMIM:612069	SOD1	6647	HP:0000733	Stereotypic behavior
OMIM:612069	SOD1	6647	HP:0000741	Apathy
OMIM:612069	SOD1	6647	HP:0002015	Dysphagia
OMIM:612069	CHMP2B	25978	HP:0001257	Spasticity
OMIM:612069	CHMP2B	25978	HP:0003202	Skeletal muscle atrophy
OMIM:612069	CHMP2B	25978	HP:0003487	Babinski sign
OMIM:612069	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	CHMP2B	25978	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:612069	CHMP2B	25978	HP:0000712	Emotional lability
OMIM:612069	CHMP2B	25978	HP:0001260	Dysarthria
OMIM:612069	CHMP2B	25978	HP:0003678	Rapidly progressive
OMIM:612069	CHMP2B	25978	HP:0000733	Stereotypic behavior
OMIM:612069	CHMP2B	25978	HP:0000741	Apathy
OMIM:612069	CHMP2B	25978	HP:0002015	Dysphagia
OMIM:612069	PRPH	5630	HP:0001257	Spasticity
OMIM:612069	PRPH	5630	HP:0003202	Skeletal muscle atrophy
OMIM:612069	PRPH	5630	HP:0003487	Babinski sign
OMIM:612069	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612069	PRPH	5630	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612069	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:612069	PRPH	5630	HP:0000712	Emotional lability
OMIM:612069	PRPH	5630	HP:0001260	Dysarthria
OMIM:612069	PRPH	5630	HP:0003678	Rapidly progressive
OMIM:612069	PRPH	5630	HP:0000733	Stereotypic behavior
OMIM:612069	PRPH	5630	HP:0000741	Apathy
OMIM:612069	PRPH	5630	HP:0002015	Dysphagia
OMIM:616439	CHCHD10	400916	HP:0001283	Bulbar palsy
OMIM:616439	CHCHD10	400916	HP:0001347	Hyperreflexia
OMIM:616439	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616439	CHCHD10	400916	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616439	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:616439	CHCHD10	400916	HP:0002380	Fasciculations
OMIM:616439	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
OMIM:616439	CHCHD10	400916	HP:0000741	Apathy
OMIM:616439	CHCHD10	400916	HP:0001265	Hyporeflexia
OMIM:616439	CHCHD10	400916	HP:0002015	Dysphagia
OMIM:616439	CHCHD10	400916	HP:0002463	Language impairment
OMIM:616439	CHCHD10	400916	HP:0002120	Cerebral cortical atrophy
OMIM:616439	TBK1	29110	HP:0001283	Bulbar palsy
OMIM:616439	TBK1	29110	HP:0001347	Hyperreflexia
OMIM:616439	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616439	TBK1	29110	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616439	TBK1	29110	HP:0001260	Dysarthria
OMIM:616439	TBK1	29110	HP:0002380	Fasciculations
OMIM:616439	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:616439	TBK1	29110	HP:0000741	Apathy
OMIM:616439	TBK1	29110	HP:0001265	Hyporeflexia
OMIM:616439	TBK1	29110	HP:0002015	Dysphagia
OMIM:616439	TBK1	29110	HP:0002463	Language impairment
OMIM:616439	TBK1	29110	HP:0002120	Cerebral cortical atrophy
OMIM:616439	VCP	7415	HP:0001283	Bulbar palsy
OMIM:616439	VCP	7415	HP:0001347	Hyperreflexia
OMIM:616439	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616439	VCP	7415	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616439	VCP	7415	HP:0001260	Dysarthria
OMIM:616439	VCP	7415	HP:0002380	Fasciculations
OMIM:616439	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:616439	VCP	7415	HP:0000741	Apathy
OMIM:616439	VCP	7415	HP:0001265	Hyporeflexia
OMIM:616439	VCP	7415	HP:0002015	Dysphagia
OMIM:616439	VCP	7415	HP:0002463	Language impairment
OMIM:616439	VCP	7415	HP:0002120	Cerebral cortical atrophy
OMIM:616439	FUS	2521	HP:0001283	Bulbar palsy
OMIM:616439	FUS	2521	HP:0001347	Hyperreflexia
OMIM:616439	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616439	FUS	2521	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616439	FUS	2521	HP:0001260	Dysarthria
OMIM:616439	FUS	2521	HP:0002380	Fasciculations
OMIM:616439	FUS	2521	HP:0003202	Skeletal muscle atrophy
OMIM:616439	FUS	2521	HP:0000741	Apathy
OMIM:616439	FUS	2521	HP:0001265	Hyporeflexia
OMIM:616439	FUS	2521	HP:0002015	Dysphagia
OMIM:616439	FUS	2521	HP:0002463	Language impairment
OMIM:616439	FUS	2521	HP:0002120	Cerebral cortical atrophy
OMIM:616439	TARDBP	23435	HP:0001283	Bulbar palsy
OMIM:616439	TARDBP	23435	HP:0001347	Hyperreflexia
OMIM:616439	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616439	TARDBP	23435	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616439	TARDBP	23435	HP:0001260	Dysarthria
OMIM:616439	TARDBP	23435	HP:0002380	Fasciculations
OMIM:616439	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:616439	TARDBP	23435	HP:0000741	Apathy
OMIM:616439	TARDBP	23435	HP:0001265	Hyporeflexia
OMIM:616439	TARDBP	23435	HP:0002015	Dysphagia
OMIM:616439	TARDBP	23435	HP:0002463	Language impairment
OMIM:616439	TARDBP	23435	HP:0002120	Cerebral cortical atrophy
OMIM:616439	SQSTM1	8878	HP:0001283	Bulbar palsy
OMIM:616439	SQSTM1	8878	HP:0001347	Hyperreflexia
OMIM:616439	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616439	SQSTM1	8878	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616439	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:616439	SQSTM1	8878	HP:0002380	Fasciculations
OMIM:616439	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:616439	SQSTM1	8878	HP:0000741	Apathy
OMIM:616439	SQSTM1	8878	HP:0001265	Hyporeflexia
OMIM:616439	SQSTM1	8878	HP:0002015	Dysphagia
OMIM:616439	SQSTM1	8878	HP:0002463	Language impairment
OMIM:616439	SQSTM1	8878	HP:0002120	Cerebral cortical atrophy
OMIM:616439	C9ORF72	203228	HP:0001283	Bulbar palsy
OMIM:616439	C9ORF72	203228	HP:0001347	Hyperreflexia
OMIM:616439	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616439	C9ORF72	203228	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616439	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:616439	C9ORF72	203228	HP:0002380	Fasciculations
OMIM:616439	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:616439	C9ORF72	203228	HP:0000741	Apathy
OMIM:616439	C9ORF72	203228	HP:0001265	Hyporeflexia
OMIM:616439	C9ORF72	203228	HP:0002015	Dysphagia
OMIM:616439	C9ORF72	203228	HP:0002463	Language impairment
OMIM:616439	C9ORF72	203228	HP:0002120	Cerebral cortical atrophy
OMIM:130010	COL5A1	1289	HP:0001634	Mitral valve prolapse
OMIM:130010	COL5A1	1289	HP:0001724	Aortic dilatation
OMIM:130010	COL5A1	1289	HP:0000963	Thin skin
OMIM:130010	COL5A1	1289	HP:0000541	Retinal detachment
OMIM:130010	COL5A1	1289	HP:0000822	Hypertension
OMIM:130010	COL5A1	1289	HP:0000163	Abnormality of the oral cavity
OMIM:130010	COL5A1	1289	HP:0001537	Umbilical hernia
OMIM:130010	COL5A1	1289	HP:0001763	Pes planus
OMIM:130010	COL5A1	1289	HP:0000776	Congenital diaphragmatic hernia
OMIM:130010	COL5A1	1289	HP:0001382	Joint hypermobility
OMIM:130010	COL5A1	1289	HP:0000974	Hyperextensible skin
OMIM:130010	COL5A1	1289	HP:0000977	Soft skin
OMIM:130010	COL5A1	1289	HP:0000010	Recurrent urinary tract infections
OMIM:130010	COL5A1	1289	HP:0000768	Pectus carinatum
OMIM:130010	COL5A1	1289	HP:0000978	Bruising susceptibility
OMIM:130010	COL5A1	1289	HP:0008069	Neoplasm of the skin
OMIM:130010	COL5A1	1289	HP:0001388	Joint laxity
OMIM:130010	COL5A1	1289	HP:0005293	Venous insufficiency
OMIM:130010	COL5A1	1289	HP:0000006	Autosomal dominant inheritance
OMIM:130010	COL5A1	1289	HP:0001030	Fragile skin
OMIM:130010	COL5A1	1289	HP:0000767	Pectus excavatum
OMIM:130010	COL5A1	1289	HP:0000015	Bladder diverticulum
OMIM:130010	COL5A1	1289	HP:0002758	Osteoarthritis
OMIM:130010	COL5A2	1290	HP:0001634	Mitral valve prolapse
OMIM:130010	COL5A2	1290	HP:0001724	Aortic dilatation
OMIM:130010	COL5A2	1290	HP:0000963	Thin skin
OMIM:130010	COL5A2	1290	HP:0000541	Retinal detachment
OMIM:130010	COL5A2	1290	HP:0000822	Hypertension
OMIM:130010	COL5A2	1290	HP:0000163	Abnormality of the oral cavity
OMIM:130010	COL5A2	1290	HP:0001537	Umbilical hernia
OMIM:130010	COL5A2	1290	HP:0001763	Pes planus
OMIM:130010	COL5A2	1290	HP:0000776	Congenital diaphragmatic hernia
OMIM:130010	COL5A2	1290	HP:0001382	Joint hypermobility
OMIM:130010	COL5A2	1290	HP:0000974	Hyperextensible skin
OMIM:130010	COL5A2	1290	HP:0000977	Soft skin
OMIM:130010	COL5A2	1290	HP:0000010	Recurrent urinary tract infections
OMIM:130010	COL5A2	1290	HP:0000768	Pectus carinatum
OMIM:130010	COL5A2	1290	HP:0000978	Bruising susceptibility
OMIM:130010	COL5A2	1290	HP:0008069	Neoplasm of the skin
OMIM:130010	COL5A2	1290	HP:0001388	Joint laxity
OMIM:130010	COL5A2	1290	HP:0005293	Venous insufficiency
OMIM:130010	COL5A2	1290	HP:0000006	Autosomal dominant inheritance
OMIM:130010	COL5A2	1290	HP:0001030	Fragile skin
OMIM:130010	COL5A2	1290	HP:0000767	Pectus excavatum
OMIM:130010	COL5A2	1290	HP:0000015	Bladder diverticulum
OMIM:130010	COL5A2	1290	HP:0002758	Osteoarthritis
OMIM:229200	ZNF469	84627	HP:0000987	Atypical scarring of skin
OMIM:229200	ZNF469	84627	HP:0000545	Myopia
OMIM:229200	ZNF469	84627	HP:0001374	Congenital hip dislocation
OMIM:229200	ZNF469	84627	HP:0000365	Hearing impairment
OMIM:229200	ZNF469	84627	HP:0100689	Decreased corneal thickness
OMIM:229200	ZNF469	84627	HP:0000592	Blue sclerae
OMIM:229200	ZNF469	84627	HP:0000563	Keratoconus
OMIM:229200	ZNF469	84627	HP:0000286	Epicanthus
OMIM:229200	ZNF469	84627	HP:0001634	Mitral valve prolapse
OMIM:229200	ZNF469	84627	HP:0000007	Autosomal recessive inheritance
OMIM:229200	ZNF469	84627	HP:0000256	Macrocephaly
OMIM:229200	ZNF469	84627	HP:0002650	Scoliosis
OMIM:229200	ZNF469	84627	HP:0000572	Visual loss
OMIM:229200	ZNF469	84627	HP:0001388	Joint laxity
OMIM:229200	PRDM5	11107	HP:0000987	Atypical scarring of skin
OMIM:229200	PRDM5	11107	HP:0000545	Myopia
OMIM:229200	PRDM5	11107	HP:0001374	Congenital hip dislocation
OMIM:229200	PRDM5	11107	HP:0000365	Hearing impairment
OMIM:229200	PRDM5	11107	HP:0100689	Decreased corneal thickness
OMIM:229200	PRDM5	11107	HP:0000592	Blue sclerae
OMIM:229200	PRDM5	11107	HP:0000563	Keratoconus
OMIM:229200	PRDM5	11107	HP:0000286	Epicanthus
OMIM:229200	PRDM5	11107	HP:0001634	Mitral valve prolapse
OMIM:229200	PRDM5	11107	HP:0000007	Autosomal recessive inheritance
OMIM:229200	PRDM5	11107	HP:0000256	Macrocephaly
OMIM:229200	PRDM5	11107	HP:0002650	Scoliosis
OMIM:229200	PRDM5	11107	HP:0000572	Visual loss
OMIM:229200	PRDM5	11107	HP:0001388	Joint laxity
OMIM:615238	CIDEC	63924	HP:0000007	Autosomal recessive inheritance
OMIM:615238	CIDEC	63924	HP:0001397	Hepatic steatosis
OMIM:615238	CIDEC	63924	HP:0002155	Hypertriglyceridemia
OMIM:615238	CIDEC	63924	HP:0002240	Hepatomegaly
OMIM:615238	CIDEC	63924	HP:0000956	Acanthosis nigricans
OMIM:615238	CIDEC	63924	HP:0009125	Lipodystrophy
OMIM:606243	ASPSCR1	79058	HP:0001428	Somatic mutation
OMIM:606243	TFE3	7030	HP:0001428	Somatic mutation
ORPHANET:256	TOR1A	1861	HP:0001288	Gait disturbance
ORPHANET:256	TOR1A	1861	HP:0001608	Abnormality of the voice
ORPHANET:256	TOR1A	1861	HP:0001276	Hypertonia
OMIM:606777	SLC2A1	6513	HP:0003487	Babinski sign
OMIM:606777	SLC2A1	6513	HP:0000006	Autosomal dominant inheritance
OMIM:606777	SLC2A1	6513	HP:0003593	Infantile onset
OMIM:606777	SLC2A1	6513	HP:0000750	Delayed speech and language development
OMIM:606777	SLC2A1	6513	HP:0001263	Global developmental delay
OMIM:606777	SLC2A1	6513	HP:0002353	EEG abnormality
OMIM:606777	SLC2A1	6513	HP:0001266	Choreoathetosis
OMIM:606777	SLC2A1	6513	HP:0001250	Seizures
OMIM:606777	SLC2A1	6513	HP:0001260	Dysarthria
OMIM:606777	SLC2A1	6513	HP:0001347	Hyperreflexia
OMIM:606777	SLC2A1	6513	HP:0001328	Specific learning disability
OMIM:606777	SLC2A1	6513	HP:0001336	Myoclonus
OMIM:606777	SLC2A1	6513	HP:0002360	Sleep disturbance
OMIM:606777	SLC2A1	6513	HP:0005484	Postnatal microcephaly
OMIM:606777	SLC2A1	6513	HP:0001249	Intellectual disability
OMIM:606777	SLC2A1	6513	HP:0001257	Spasticity
OMIM:606777	SLC2A1	6513	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:606777	SLC2A1	6513	HP:0000007	Autosomal recessive inheritance
OMIM:606777	SLC2A1	6513	HP:0003470	Paralysis
OMIM:606777	SLC2A1	6513	HP:0003812	Phenotypic variability
OMIM:606777	SLC2A1	6513	HP:0001251	Ataxia
OMIM:300705	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300705	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300705	ZNF711	7552	HP:0000750	Delayed speech and language development
OMIM:300705	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300705	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300705	IL1RAPL1	11141	HP:0000750	Delayed speech and language development
OMIM:300705	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300705	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300705	ACSL4	2182	HP:0000750	Delayed speech and language development
OMIM:300705	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300705	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300705	PAK3	5063	HP:0000750	Delayed speech and language development
OMIM:300705	SYP	6855	HP:0001249	Intellectual disability
OMIM:300705	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300705	SYP	6855	HP:0000750	Delayed speech and language development
OMIM:300705	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300705	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300705	FTSJ1	24140	HP:0000750	Delayed speech and language development
OMIM:300705	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300705	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300705	DLG3	1741	HP:0000750	Delayed speech and language development
OMIM:300705	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300705	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300705	PTCHD1	139411	HP:0000750	Delayed speech and language development
OMIM:300705	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300705	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300705	UPF3B	65109	HP:0000750	Delayed speech and language development
OMIM:300705	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300705	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300705	ZNF81	347344	HP:0000750	Delayed speech and language development
OMIM:300705	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300705	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300705	RAB39B	116442	HP:0000750	Delayed speech and language development
OMIM:300705	DMD	1756	HP:0001249	Intellectual disability
OMIM:300705	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300705	DMD	1756	HP:0000750	Delayed speech and language development
OMIM:300705	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300705	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300705	MAGT1	84061	HP:0000750	Delayed speech and language development
OMIM:300705	MID2	11043	HP:0001249	Intellectual disability
OMIM:300705	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300705	MID2	11043	HP:0000750	Delayed speech and language development
OMIM:300705	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300705	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300705	GDI1	2664	HP:0000750	Delayed speech and language development
OMIM:300705	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300705	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300705	ZNF41	7592	HP:0000750	Delayed speech and language development
OMIM:300705	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300705	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300705	MECP2	4204	HP:0000750	Delayed speech and language development
OMIM:300705	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300705	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300705	HCFC1	3054	HP:0000750	Delayed speech and language development
OMIM:300705	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300705	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300705	USP9X	8239	HP:0000750	Delayed speech and language development
OMIM:300705	MED12	9968	HP:0001249	Intellectual disability
OMIM:300705	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300705	MED12	9968	HP:0000750	Delayed speech and language development
OMIM:300705	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300705	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300705	ZNF674	641339	HP:0000750	Delayed speech and language development
OMIM:300705	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300705	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300705	ARHGEF6	9459	HP:0000750	Delayed speech and language development
OMIM:300705	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300705	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300705	RPS6KA3	6197	HP:0000750	Delayed speech and language development
OMIM:300705	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300705	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300705	IQSEC2	23096	HP:0000750	Delayed speech and language development
OMIM:300705	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300705	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300705	AGTR2	186	HP:0000750	Delayed speech and language development
OMIM:300705	ARX	170302	HP:0001249	Intellectual disability
OMIM:300705	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300705	ARX	170302	HP:0000750	Delayed speech and language development
OMIM:300705	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300705	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300705	ALG13	79868	HP:0000750	Delayed speech and language development
OMIM:300705	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300705	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:300705	TSPAN7	7102	HP:0000750	Delayed speech and language development
OMIM:176270	NDN	4692	HP:0001773	Short foot
OMIM:176270	NDN	4692	HP:0001010	Hypopigmentation of the skin
OMIM:176270	NDN	4692	HP:0002205	Recurrent respiratory infections
OMIM:176270	NDN	4692	HP:0030084	Clinodactyly
OMIM:176270	NDN	4692	HP:0000219	Thin upper lip vermilion
OMIM:176270	NDN	4692	HP:0000789	Infertility
OMIM:176270	NDN	4692	HP:0000028	Cryptorchidism
OMIM:176270	NDN	4692	HP:0007513	Generalized hypopigmentation
OMIM:176270	NDN	4692	HP:0001250	Seizures
OMIM:176270	NDN	4692	HP:0000565	Esotropia
OMIM:176270	NDN	4692	HP:0000545	Myopia
OMIM:176270	NDN	4692	HP:0000992	Cutaneous photosensitivity
OMIM:176270	NDN	4692	HP:0001328	Specific learning disability
OMIM:176270	NDN	4692	HP:0002033	Poor suck
OMIM:176270	NDN	4692	HP:0000046	Scrotal hypoplasia
OMIM:176270	NDN	4692	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	NDN	4692	HP:0000341	Narrow forehead
OMIM:176270	NDN	4692	HP:0000446	Narrow nasal bridge
OMIM:176270	NDN	4692	HP:0000826	Precocious puberty
OMIM:176270	NDN	4692	HP:0000842	Hyperinsulinemia
OMIM:176270	NDN	4692	HP:0001159	Syndactyly
OMIM:176270	NDN	4692	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	NDN	4692	HP:0000054	Micropenis
OMIM:176270	NDN	4692	HP:0009466	Radial deviation of finger
OMIM:176270	NDN	4692	HP:0000939	Osteoporosis
OMIM:176270	NDN	4692	HP:0002119	Ventriculomegaly
OMIM:176270	NDN	4692	HP:0002791	Hypoventilation
OMIM:176270	NDN	4692	HP:0005599	Hypopigmentation of hair
OMIM:176270	NDN	4692	HP:0000717	Autism
OMIM:176270	NDN	4692	HP:0000750	Delayed speech and language development
OMIM:176270	NDN	4692	HP:0003745	Sporadic
OMIM:176270	NDN	4692	HP:0001513	Obesity
OMIM:176270	NDN	4692	HP:0000938	Osteopenia
OMIM:176270	NDN	4692	HP:0000786	Primary amenorrhea
OMIM:176270	NDN	4692	HP:0002714	Downturned corners of mouth
OMIM:176270	NDN	4692	HP:0001611	Nasal speech
OMIM:176270	NDN	4692	HP:0002650	Scoliosis
OMIM:176270	NDN	4692	HP:0000824	Growth hormone deficiency
OMIM:176270	NDN	4692	HP:0000268	Dolichocephaly
OMIM:176270	NDN	4692	HP:0004279	Short palm
OMIM:176270	NDN	4692	HP:0005978	Type II diabetes mellitus
OMIM:176270	NDN	4692	HP:0000670	Carious teeth
OMIM:176270	NDN	4692	HP:0000876	Oligomenorrhea
OMIM:176270	NDN	4692	HP:0001531	Failure to thrive in infancy
OMIM:176270	NDN	4692	HP:0000709	Psychosis
OMIM:176270	NDN	4692	HP:0004322	Short stature
OMIM:176270	NDN	4692	HP:0007730	Iris hypopigmentation
OMIM:176270	NDN	4692	HP:0007328	Impaired pain sensation
OMIM:176270	NDN	4692	HP:0010535	Sleep apnea
OMIM:176270	NDN	4692	HP:0000582	Upslanted palpebral fissure
OMIM:176270	NDN	4692	HP:0001270	Motor delay
OMIM:176270	NDN	4692	HP:0001263	Global developmental delay
OMIM:176270	NDN	4692	HP:0001558	Decreased fetal movement
OMIM:176270	NDN	4692	HP:0001290	Generalized hypotonia
OMIM:176270	NDN	4692	HP:0000846	Adrenal insufficiency
OMIM:176270	NDN	4692	HP:0001385	Hip dysplasia
OMIM:176270	NDN	4692	HP:0002808	Kyphosis
OMIM:176270	NDN	4692	HP:0000540	Hypermetropia
OMIM:176270	SNRPN	6638	HP:0001773	Short foot
OMIM:176270	SNRPN	6638	HP:0001010	Hypopigmentation of the skin
OMIM:176270	SNRPN	6638	HP:0002205	Recurrent respiratory infections
OMIM:176270	SNRPN	6638	HP:0030084	Clinodactyly
OMIM:176270	SNRPN	6638	HP:0000219	Thin upper lip vermilion
OMIM:176270	SNRPN	6638	HP:0000789	Infertility
OMIM:176270	SNRPN	6638	HP:0000028	Cryptorchidism
OMIM:176270	SNRPN	6638	HP:0007513	Generalized hypopigmentation
OMIM:176270	SNRPN	6638	HP:0001250	Seizures
OMIM:176270	SNRPN	6638	HP:0000565	Esotropia
OMIM:176270	SNRPN	6638	HP:0000545	Myopia
OMIM:176270	SNRPN	6638	HP:0000992	Cutaneous photosensitivity
OMIM:176270	SNRPN	6638	HP:0001328	Specific learning disability
OMIM:176270	SNRPN	6638	HP:0002033	Poor suck
OMIM:176270	SNRPN	6638	HP:0000046	Scrotal hypoplasia
OMIM:176270	SNRPN	6638	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	SNRPN	6638	HP:0000341	Narrow forehead
OMIM:176270	SNRPN	6638	HP:0000446	Narrow nasal bridge
OMIM:176270	SNRPN	6638	HP:0000826	Precocious puberty
OMIM:176270	SNRPN	6638	HP:0000842	Hyperinsulinemia
OMIM:176270	SNRPN	6638	HP:0001159	Syndactyly
OMIM:176270	SNRPN	6638	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	SNRPN	6638	HP:0000054	Micropenis
OMIM:176270	SNRPN	6638	HP:0009466	Radial deviation of finger
OMIM:176270	SNRPN	6638	HP:0000939	Osteoporosis
OMIM:176270	SNRPN	6638	HP:0002119	Ventriculomegaly
OMIM:176270	SNRPN	6638	HP:0002791	Hypoventilation
OMIM:176270	SNRPN	6638	HP:0005599	Hypopigmentation of hair
OMIM:176270	SNRPN	6638	HP:0000717	Autism
OMIM:176270	SNRPN	6638	HP:0000750	Delayed speech and language development
OMIM:176270	SNRPN	6638	HP:0003745	Sporadic
OMIM:176270	SNRPN	6638	HP:0001513	Obesity
OMIM:176270	SNRPN	6638	HP:0000938	Osteopenia
OMIM:176270	SNRPN	6638	HP:0000786	Primary amenorrhea
OMIM:176270	SNRPN	6638	HP:0002714	Downturned corners of mouth
OMIM:176270	SNRPN	6638	HP:0001611	Nasal speech
OMIM:176270	SNRPN	6638	HP:0002650	Scoliosis
OMIM:176270	SNRPN	6638	HP:0000824	Growth hormone deficiency
OMIM:176270	SNRPN	6638	HP:0000268	Dolichocephaly
OMIM:176270	SNRPN	6638	HP:0004279	Short palm
OMIM:176270	SNRPN	6638	HP:0005978	Type II diabetes mellitus
OMIM:176270	SNRPN	6638	HP:0000670	Carious teeth
OMIM:176270	SNRPN	6638	HP:0000876	Oligomenorrhea
OMIM:176270	SNRPN	6638	HP:0001531	Failure to thrive in infancy
OMIM:176270	SNRPN	6638	HP:0000709	Psychosis
OMIM:176270	SNRPN	6638	HP:0004322	Short stature
OMIM:176270	SNRPN	6638	HP:0007730	Iris hypopigmentation
OMIM:176270	SNRPN	6638	HP:0007328	Impaired pain sensation
OMIM:176270	SNRPN	6638	HP:0010535	Sleep apnea
OMIM:176270	SNRPN	6638	HP:0000582	Upslanted palpebral fissure
OMIM:176270	SNRPN	6638	HP:0001270	Motor delay
OMIM:176270	SNRPN	6638	HP:0001263	Global developmental delay
OMIM:176270	SNRPN	6638	HP:0001558	Decreased fetal movement
OMIM:176270	SNRPN	6638	HP:0001290	Generalized hypotonia
OMIM:176270	SNRPN	6638	HP:0000846	Adrenal insufficiency
OMIM:176270	SNRPN	6638	HP:0001385	Hip dysplasia
OMIM:176270	SNRPN	6638	HP:0002808	Kyphosis
OMIM:176270	SNRPN	6638	HP:0000540	Hypermetropia
OMIM:231090	NLRP7	199713	HP:0000119	Abnormality of the genitourinary system
OMIM:231090	NLRP7	199713	HP:0000007	Autosomal recessive inheritance
OMIM:231090	KHDC3L	154288	HP:0000119	Abnormality of the genitourinary system
OMIM:231090	KHDC3L	154288	HP:0000007	Autosomal recessive inheritance
OMIM:615327	POFUT1	23509	HP:0000006	Autosomal dominant inheritance
OMIM:615327	POFUT1	23509	HP:0007502	Follicular hyperkeratosis
OMIM:615327	POGLUT1	56983	HP:0000006	Autosomal dominant inheritance
OMIM:615327	POGLUT1	56983	HP:0007502	Follicular hyperkeratosis
OMIM:615327	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:615327	KRT5	3852	HP:0007502	Follicular hyperkeratosis
OMIM:113700	PTPRF	5792	HP:0000453	Choanal atresia
OMIM:113700	PTPRF	5792	HP:0001417	X-linked inheritance
OMIM:113700	PTPRF	5792	HP:0000006	Autosomal dominant inheritance
OMIM:168820	PON1	5444	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:168820	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:603585	SLC35A1	10559	HP:0002718	Recurrent bacterial infections
OMIM:603585	SLC35A1	10559	HP:0003593	Infantile onset
OMIM:603585	SLC35A1	10559	HP:0000007	Autosomal recessive inheritance
OMIM:603585	SLC35A1	10559	HP:0001873	Thrombocytopenia
OMIM:603585	SLC35A1	10559	HP:0001875	Neutropenia
OMIM:152950	KIF11	3832	HP:0007703	Abnormality of retinal pigmentation
OMIM:152950	KIF11	3832	HP:0001256	Intellectual disability, mild
OMIM:152950	KIF11	3832	HP:0005469	Flat occiput
OMIM:152950	KIF11	3832	HP:0000648	Optic atrophy
OMIM:152950	KIF11	3832	HP:0000463	Anteverted nares
OMIM:152950	KIF11	3832	HP:0000286	Epicanthus
OMIM:152950	KIF11	3832	HP:0000343	Long philtrum
OMIM:152950	KIF11	3832	HP:0000518	Cataract
OMIM:152950	KIF11	3832	HP:0000340	Sloping forehead
OMIM:152950	KIF11	3832	HP:0001631	Atria septal defect
OMIM:152950	KIF11	3832	HP:0000545	Myopia
OMIM:152950	KIF11	3832	HP:0009891	Underdeveloped supraorbital ridges
OMIM:152950	KIF11	3832	HP:0008388	Abnormality of the toenails
OMIM:152950	KIF11	3832	HP:0000219	Thin upper lip vermilion
OMIM:152950	KIF11	3832	HP:0000179	Thick lower lip vermilion
OMIM:152950	KIF11	3832	HP:0000377	Abnormality of the pinna
OMIM:152950	KIF11	3832	HP:0000307	Pointed chin
OMIM:152950	KIF11	3832	HP:0000252	Microcephaly
OMIM:152950	KIF11	3832	HP:0200042	Skin ulcer
OMIM:152950	KIF11	3832	HP:0001276	Hypertonia
OMIM:152950	KIF11	3832	HP:0000582	Upslanted palpebral fissure
OMIM:152950	KIF11	3832	HP:0100543	Cognitive impairment
OMIM:152950	KIF11	3832	HP:0000006	Autosomal dominant inheritance
OMIM:152950	KIF11	3832	HP:0000411	Protruding ear
OMIM:152950	KIF11	3832	HP:0001004	Lymphedema
OMIM:152950	KIF11	3832	HP:0000303	Mandibular prognathia
OMIM:152950	KIF11	3832	HP:0005280	Depressed nasal bridge
OMIM:152950	KIF11	3832	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:152950	KIF11	3832	HP:0001252	Muscular hypotonia
OMIM:152950	KIF11	3832	HP:0000455	Broad nasal tip
OMIM:152950	KIF11	3832	HP:0004322	Short stature
OMIM:152950	KIF11	3832	HP:0000505	Visual impairment
OMIM:152950	KIF11	3832	HP:0000958	Dry skin
OMIM:152950	KIF11	3832	HP:0004418	Thrombophlebitis
OMIM:152950	KIF11	3832	HP:0000488	Retinopathy
OMIM:152950	KIF11	3832	HP:0000293	Full cheeks
OMIM:152950	KIF11	3832	HP:0001250	Seizures
OMIM:152950	KIF11	3832	HP:0000501	Glaucoma
OMIM:152950	KIF11	3832	HP:0000494	Downslanted palpebral fissures
OMIM:152950	KIF11	3832	HP:0000508	Ptosis
OMIM:152950	KIF11	3832	HP:0011220	Prominent forehead
OMIM:152950	KIF11	3832	HP:0000541	Retinal detachment
OMIM:152950	KIF11	3832	HP:0004377	Hematological neoplasm
OMIM:152950	KIF11	3832	HP:0100658	Cellulitis
OMIM:152950	KIF11	3832	HP:0001072	Thickened skin
OMIM:608106	UNG	7374	HP:0000007	Autosomal recessive inheritance
OMIM:608106	UNG	7374	HP:0004315	IgG deficiency
OMIM:608106	UNG	7374	HP:0002718	Recurrent bacterial infections
OMIM:608106	UNG	7374	HP:0002721	Immunodeficiency
OMIM:608106	UNG	7374	HP:0002716	Lymphadenopathy
OMIM:614728	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:614728	CEP63	80254	HP:0000750	Delayed speech and language development
OMIM:614728	CEP63	80254	HP:0001249	Intellectual disability
OMIM:614728	CEP63	80254	HP:0004322	Short stature
OMIM:614728	CEP63	80254	HP:0001263	Global developmental delay
OMIM:614728	CEP63	80254	HP:0000252	Microcephaly
OMIM:615368	DNM2	1785	HP:0001522	Death in infancy
OMIM:615368	DNM2	1785	HP:0001252	Muscular hypotonia
OMIM:615368	DNM2	1785	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615368	DNM2	1785	HP:0001371	Flexion contracture
OMIM:615368	DNM2	1785	HP:0001558	Decreased fetal movement
OMIM:615368	DNM2	1785	HP:0002093	Respiratory insufficiency
OMIM:615368	DNM2	1785	HP:0000007	Autosomal recessive inheritance
OMIM:615368	DNM2	1785	HP:0001284	Areflexia
OMIM:615368	DNM2	1785	HP:0001518	Small for gestational age
OMIM:615368	DNM2	1785	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:615368	DNM2	1785	HP:0001561	Polyhydramnios
OMIM:615368	DNM2	1785	HP:0003577	Congenital onset
OMIM:611391	CRYBA2	1412	HP:0000007	Autosomal recessive inheritance
OMIM:611391	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:611391	BFSP1	631	HP:0000007	Autosomal recessive inheritance
OMIM:611391	GCNT2	2651	HP:0000007	Autosomal recessive inheritance
OMIM:415000	DAZ1	1617	HP:0001450	Y-linked inheritance
OMIM:415000	DAZ1	1617	HP:0000027	Azoospermia
OMIM:415000	RBMY1A1	5940	HP:0001450	Y-linked inheritance
OMIM:415000	RBMY1A1	5940	HP:0000027	Azoospermia
OMIM:415000	TSPY1	7258	HP:0001450	Y-linked inheritance
OMIM:415000	TSPY1	7258	HP:0000027	Azoospermia
OMIM:415000	DDX3Y	8653	HP:0001450	Y-linked inheritance
OMIM:415000	DDX3Y	8653	HP:0000027	Azoospermia
OMIM:415000	DAZ3	57054	HP:0001450	Y-linked inheritance
OMIM:415000	DAZ3	57054	HP:0000027	Azoospermia
OMIM:415000	USP9Y	8287	HP:0001450	Y-linked inheritance
OMIM:415000	USP9Y	8287	HP:0000027	Azoospermia
OMIM:415000	DAZ2	57055	HP:0001450	Y-linked inheritance
OMIM:415000	DAZ2	57055	HP:0000027	Azoospermia
OMIM:145250	KITLG	4254	HP:0003577	Congenital onset
OMIM:145250	KITLG	4254	HP:0001053	Hypopigmented skin patches
OMIM:145250	KITLG	4254	HP:0000006	Autosomal dominant inheritance
OMIM:145250	KITLG	4254	HP:0001045	Vitiligo
OMIM:145250	KITLG	4254	HP:0000957	Cafe-au-lait spot
OMIM:145250	KITLG	4254	HP:0000962	Hyperkeratosis
OMIM:145250	KITLG	4254	HP:0001034	Hypermelanotic macule
OMIM:615502	CTCF	10664	HP:0000729	Autistic behavior
OMIM:615502	CTCF	10664	HP:0000006	Autosomal dominant inheritance
OMIM:615502	CTCF	10664	HP:0004322	Short stature
OMIM:615502	CTCF	10664	HP:0011968	Feeding difficulties
OMIM:615502	CTCF	10664	HP:0001252	Muscular hypotonia
OMIM:615502	CTCF	10664	HP:0000164	Abnormality of the teeth
OMIM:615502	CTCF	10664	HP:0000252	Microcephaly
OMIM:615502	CTCF	10664	HP:0000175	Cleft palate
OMIM:615502	CTCF	10664	HP:0000540	Hypermetropia
OMIM:615502	CTCF	10664	HP:0001631	Atria septal defect
OMIM:615502	CTCF	10664	HP:0001249	Intellectual disability
OMIM:615502	CTCF	10664	HP:0000028	Cryptorchidism
OMIM:615502	CTCF	10664	HP:0001643	Patent ductus arteriosus
OMIM:615502	CTCF	10664	HP:0000233	Thin vermilion border
OMIM:615502	CTCF	10664	HP:0001263	Global developmental delay
OMIM:259500	CHEK2	11200	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:259500	CHEK2	11200	HP:0002669	Osteosarcoma
OMIM:259500	RB1	5925	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:259500	RB1	5925	HP:0002669	Osteosarcoma
OMIM:259500	TP53	7157	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:259500	TP53	7157	HP:0002669	Osteosarcoma
ORPHANET:166002	COL9A1	1297	HP:0002758	Osteoarthritis
ORPHANET:166002	COL9A1	1297	HP:0001376	Limitation of joint mobility
ORPHANET:166002	COL9A1	1297	HP:0002970	Genu varum
ORPHANET:166002	COL9A1	1297	HP:0003272	Abnormality of the hip bone
ORPHANET:166002	COL9A1	1297	HP:0002983	Micromelia
ORPHANET:166002	COL9A1	1297	HP:0002829	Arthralgia
ORPHANET:166002	COL9A1	1297	HP:0004322	Short stature
ORPHANET:166002	COL9A1	1297	HP:0002857	Genu valgum
ORPHANET:166002	COL9A1	1297	HP:0001288	Gait disturbance
ORPHANET:166002	COL9A1	1297	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:166002	COL9A2	1298	HP:0002758	Osteoarthritis
ORPHANET:166002	COL9A2	1298	HP:0001376	Limitation of joint mobility
ORPHANET:166002	COL9A2	1298	HP:0002970	Genu varum
ORPHANET:166002	COL9A2	1298	HP:0003272	Abnormality of the hip bone
ORPHANET:166002	COL9A2	1298	HP:0002983	Micromelia
ORPHANET:166002	COL9A2	1298	HP:0002829	Arthralgia
ORPHANET:166002	COL9A2	1298	HP:0004322	Short stature
ORPHANET:166002	COL9A2	1298	HP:0002857	Genu valgum
ORPHANET:166002	COL9A2	1298	HP:0001288	Gait disturbance
ORPHANET:166002	COL9A2	1298	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:166002	COL9A3	1299	HP:0002758	Osteoarthritis
ORPHANET:166002	COL9A3	1299	HP:0001376	Limitation of joint mobility
ORPHANET:166002	COL9A3	1299	HP:0002970	Genu varum
ORPHANET:166002	COL9A3	1299	HP:0003272	Abnormality of the hip bone
ORPHANET:166002	COL9A3	1299	HP:0002983	Micromelia
ORPHANET:166002	COL9A3	1299	HP:0002829	Arthralgia
ORPHANET:166002	COL9A3	1299	HP:0004322	Short stature
ORPHANET:166002	COL9A3	1299	HP:0002857	Genu valgum
ORPHANET:166002	COL9A3	1299	HP:0001288	Gait disturbance
ORPHANET:166002	COL9A3	1299	HP:0005930	Abnormality of epiphysis morphology
OMIM:304950	DYM	54808	HP:0003175	Hypoplastic ischia
OMIM:304950	DYM	54808	HP:0003521	Disproportionate short-trunk short stature
OMIM:304950	DYM	54808	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:304950	DYM	54808	HP:0001822	Hallux valgus
OMIM:304950	DYM	54808	HP:0001419	X-linked recessive inheritance
OMIM:304950	DYM	54808	HP:0002938	Lumbar hyperlordosis
OMIM:304950	DYM	54808	HP:0000926	Platyspondyly
OMIM:304950	DYM	54808	HP:0000303	Mandibular prognathia
OMIM:304950	DYM	54808	HP:0001498	Carpal bone hypoplasia
OMIM:304950	DYM	54808	HP:0002650	Scoliosis
OMIM:304950	DYM	54808	HP:0002684	Thickened calvaria
OMIM:304950	DYM	54808	HP:0002857	Genu valgum
OMIM:304950	DYM	54808	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:304950	DYM	54808	HP:0000470	Short neck
OMIM:304950	DYM	54808	HP:0010049	Short metacarpal
OMIM:304950	DYM	54808	HP:0000707	Abnormality of the nervous system
OMIM:304950	DYM	54808	HP:0000280	Coarse facial features
OMIM:304950	DYM	54808	HP:0100864	Short femoral neck
OMIM:304950	DYM	54808	HP:0000248	Brachycephaly
OMIM:304950	DYM	54808	HP:0002812	Coxa vara
OMIM:304950	DYM	54808	HP:0001552	Barrel-shaped chest
OMIM:221745	COX1	4512	HP:0003621	Juvenile onset
OMIM:221745	COX1	4512	HP:0001427	Mitochondrial inheritance
OMIM:221745	COX1	4512	HP:0000007	Autosomal recessive inheritance
OMIM:221745	COX1	4512	HP:0000408	Progressive sensorineural hearing impairment
OMIM:221745	TFB1M	51106	HP:0003621	Juvenile onset
OMIM:221745	TFB1M	51106	HP:0001427	Mitochondrial inheritance
OMIM:221745	TFB1M	51106	HP:0000007	Autosomal recessive inheritance
OMIM:221745	TFB1M	51106	HP:0000408	Progressive sensorineural hearing impairment
OMIM:221745	TRNH	4564	HP:0003621	Juvenile onset
OMIM:221745	TRNH	4564	HP:0001427	Mitochondrial inheritance
OMIM:221745	TRNH	4564	HP:0000007	Autosomal recessive inheritance
OMIM:221745	TRNH	4564	HP:0000408	Progressive sensorineural hearing impairment
OMIM:221745	RNR1	4549	HP:0003621	Juvenile onset
OMIM:221745	RNR1	4549	HP:0001427	Mitochondrial inheritance
OMIM:221745	RNR1	4549	HP:0000007	Autosomal recessive inheritance
OMIM:221745	RNR1	4549	HP:0000408	Progressive sensorineural hearing impairment
OMIM:221745	TRMU	55687	HP:0003621	Juvenile onset
OMIM:221745	TRMU	55687	HP:0001427	Mitochondrial inheritance
OMIM:221745	TRMU	55687	HP:0000007	Autosomal recessive inheritance
OMIM:221745	TRMU	55687	HP:0000408	Progressive sensorineural hearing impairment
OMIM:221745	TRNS1	4574	HP:0003621	Juvenile onset
OMIM:221745	TRNS1	4574	HP:0001427	Mitochondrial inheritance
OMIM:221745	TRNS1	4574	HP:0000007	Autosomal recessive inheritance
OMIM:221745	TRNS1	4574	HP:0000408	Progressive sensorineural hearing impairment
OMIM:158300	MYH8	4626	HP:0002827	Hip dislocation
OMIM:158300	MYH8	4626	HP:0000006	Autosomal dominant inheritance
OMIM:158300	MYH8	4626	HP:0001376	Limitation of joint mobility
OMIM:158300	MYH8	4626	HP:0002804	Arthrogryposis multiplex congenita
OMIM:158300	MYH8	4626	HP:0003272	Abnormality of the hip bone
OMIM:158300	MYH8	4626	HP:0003011	Abnormality of the musculature
OMIM:158300	MYH8	4626	HP:0001765	Hammertoe
OMIM:158300	MYH8	4626	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:158300	MYH8	4626	HP:0000508	Ptosis
OMIM:158300	MYH8	4626	HP:0001840	Metatarsus adductus
OMIM:158300	MYH8	4626	HP:0001762	Talipes equinovarus
OMIM:158300	MYH8	4626	HP:0004322	Short stature
OMIM:158300	MYH8	4626	HP:0000303	Mandibular prognathia
OMIM:158300	MYH8	4626	HP:0000347	Micrognathia
OMIM:158300	MYH8	4626	HP:0011968	Feeding difficulties
OMIM:158300	MYH8	4626	HP:0000324	Facial asymmetry
OMIM:158300	MYH8	4626	HP:0000256	Macrocephaly
OMIM:158300	MYH8	4626	HP:0002015	Dysphagia
OMIM:246450	HMGCL	3155	HP:0001942	Metabolic acidosis
OMIM:246450	HMGCL	3155	HP:0003819	Death in childhood
OMIM:246450	HMGCL	3155	HP:0001987	Hyperammonemia
OMIM:246450	HMGCL	3155	HP:0001943	Hypoglycemia
OMIM:246450	HMGCL	3155	HP:0002240	Hepatomegaly
OMIM:246450	HMGCL	3155	HP:0001259	Coma
OMIM:246450	HMGCL	3155	HP:0000007	Autosomal recessive inheritance
OMIM:246450	HMGCL	3155	HP:0001945	Fever
OMIM:600416	FRG1	2483	HP:0000006	Autosomal dominant inheritance
OMIM:600416	FRG1	2483	HP:0000707	Abnormality of the nervous system
OMIM:600416	FRG1	2483	HP:0001324	Muscle weakness
OMIM:600416	FRG1	2483	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600416	SMCHD1	23347	HP:0000006	Autosomal dominant inheritance
OMIM:600416	SMCHD1	23347	HP:0000707	Abnormality of the nervous system
OMIM:600416	SMCHD1	23347	HP:0001324	Muscle weakness
OMIM:600416	SMCHD1	23347	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600416	DUX4	100288687	HP:0000006	Autosomal dominant inheritance
OMIM:600416	DUX4	100288687	HP:0000707	Abnormality of the nervous system
OMIM:600416	DUX4	100288687	HP:0001324	Muscle weakness
OMIM:600416	DUX4	100288687	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:236270	MTRR	4552	HP:0001252	Muscular hypotonia
OMIM:236270	MTRR	4552	HP:0001254	Lethargy
OMIM:236270	MTRR	4552	HP:0001263	Global developmental delay
OMIM:236270	MTRR	4552	HP:0003355	Aminoaciduria
OMIM:236270	MTRR	4552	HP:0002093	Respiratory insufficiency
OMIM:236270	MTRR	4552	HP:0001288	Gait disturbance
OMIM:236270	MTRR	4552	HP:0002120	Cerebral cortical atrophy
OMIM:236270	MTRR	4552	HP:0003593	Infantile onset
OMIM:236270	MTRR	4552	HP:0001250	Seizures
OMIM:236270	MTRR	4552	HP:0001889	Megaloblastic anemia
OMIM:236270	MTRR	4552	HP:0001903	Anemia
OMIM:236270	MTRR	4552	HP:0000618	Blindness
OMIM:236270	MTRR	4552	HP:0000007	Autosomal recessive inheritance
OMIM:236270	MTRR	4552	HP:0000639	Nystagmus
OMIM:236270	MTRR	4552	HP:0000762	Decreased nerve conduction velocity
OMIM:236270	MTRR	4552	HP:0100543	Cognitive impairment
OMIM:236270	MTRR	4552	HP:0001508	Failure to thrive
OMIM:236270	MTRR	4552	HP:0006887	Intellectual disability, progressive
OMIM:236270	MTRR	4552	HP:0002059	Cerebral atrophy
OMIM:601813	FZD4	8322	HP:0000007	Autosomal recessive inheritance
OMIM:601813	FZD4	8322	HP:0003593	Infantile onset
OMIM:601813	FZD4	8322	HP:0000938	Osteopenia
OMIM:601813	FZD4	8322	HP:0001146	Pigmentary retinal degeneration
OMIM:601813	FZD4	8322	HP:0007663	Reduced visual acuity
OMIM:601813	FZD4	8322	HP:0000523	Subcapsular cataract
OMIM:601813	FZD4	8322	HP:0000618	Blindness
OMIM:601813	FZD4	8322	HP:0000006	Autosomal dominant inheritance
OMIM:601813	TSPAN12	23554	HP:0000007	Autosomal recessive inheritance
OMIM:601813	TSPAN12	23554	HP:0003593	Infantile onset
OMIM:601813	TSPAN12	23554	HP:0000938	Osteopenia
OMIM:601813	TSPAN12	23554	HP:0001146	Pigmentary retinal degeneration
OMIM:601813	TSPAN12	23554	HP:0007663	Reduced visual acuity
OMIM:601813	TSPAN12	23554	HP:0000523	Subcapsular cataract
OMIM:601813	TSPAN12	23554	HP:0000618	Blindness
OMIM:601813	TSPAN12	23554	HP:0000006	Autosomal dominant inheritance
OMIM:601813	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:601813	ZNF408	79797	HP:0003593	Infantile onset
OMIM:601813	ZNF408	79797	HP:0000938	Osteopenia
OMIM:601813	ZNF408	79797	HP:0001146	Pigmentary retinal degeneration
OMIM:601813	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:601813	ZNF408	79797	HP:0000523	Subcapsular cataract
OMIM:601813	ZNF408	79797	HP:0000618	Blindness
OMIM:601813	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:601813	NDP	4693	HP:0000007	Autosomal recessive inheritance
OMIM:601813	NDP	4693	HP:0003593	Infantile onset
OMIM:601813	NDP	4693	HP:0000938	Osteopenia
OMIM:601813	NDP	4693	HP:0001146	Pigmentary retinal degeneration
OMIM:601813	NDP	4693	HP:0007663	Reduced visual acuity
OMIM:601813	NDP	4693	HP:0000523	Subcapsular cataract
OMIM:601813	NDP	4693	HP:0000618	Blindness
OMIM:601813	NDP	4693	HP:0000006	Autosomal dominant inheritance
OMIM:601813	LRP5	4041	HP:0000007	Autosomal recessive inheritance
OMIM:601813	LRP5	4041	HP:0003593	Infantile onset
OMIM:601813	LRP5	4041	HP:0000938	Osteopenia
OMIM:601813	LRP5	4041	HP:0001146	Pigmentary retinal degeneration
OMIM:601813	LRP5	4041	HP:0007663	Reduced visual acuity
OMIM:601813	LRP5	4041	HP:0000523	Subcapsular cataract
OMIM:601813	LRP5	4041	HP:0000618	Blindness
OMIM:601813	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:614302	LMNA	4000	HP:0001662	Bradycardia
OMIM:614302	LMNA	4000	HP:0003677	Slow progression
OMIM:614302	LMNA	4000	HP:0003560	Muscular dystrophy
OMIM:614302	LMNA	4000	HP:0003701	Proximal muscle weakness
OMIM:614302	LMNA	4000	HP:0000467	Neck muscle weakness
OMIM:614302	LMNA	4000	HP:0005110	Atrial fibrillation
OMIM:614302	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:614302	LMNA	4000	HP:0003581	Adult onset
OMIM:614302	LMNA	4000	HP:0007126	Proximal amyotrophy
OMIM:614302	SYNE1	23345	HP:0001662	Bradycardia
OMIM:614302	SYNE1	23345	HP:0003677	Slow progression
OMIM:614302	SYNE1	23345	HP:0003560	Muscular dystrophy
OMIM:614302	SYNE1	23345	HP:0003701	Proximal muscle weakness
OMIM:614302	SYNE1	23345	HP:0000467	Neck muscle weakness
OMIM:614302	SYNE1	23345	HP:0005110	Atrial fibrillation
OMIM:614302	SYNE1	23345	HP:0000006	Autosomal dominant inheritance
OMIM:614302	SYNE1	23345	HP:0003581	Adult onset
OMIM:614302	SYNE1	23345	HP:0007126	Proximal amyotrophy
OMIM:614302	TMEM43	79188	HP:0001662	Bradycardia
OMIM:614302	TMEM43	79188	HP:0003677	Slow progression
OMIM:614302	TMEM43	79188	HP:0003560	Muscular dystrophy
OMIM:614302	TMEM43	79188	HP:0003701	Proximal muscle weakness
OMIM:614302	TMEM43	79188	HP:0000467	Neck muscle weakness
OMIM:614302	TMEM43	79188	HP:0005110	Atrial fibrillation
OMIM:614302	TMEM43	79188	HP:0000006	Autosomal dominant inheritance
OMIM:614302	TMEM43	79188	HP:0003581	Adult onset
OMIM:614302	TMEM43	79188	HP:0007126	Proximal amyotrophy
OMIM:614302	SYNE2	23224	HP:0001662	Bradycardia
OMIM:614302	SYNE2	23224	HP:0003677	Slow progression
OMIM:614302	SYNE2	23224	HP:0003560	Muscular dystrophy
OMIM:614302	SYNE2	23224	HP:0003701	Proximal muscle weakness
OMIM:614302	SYNE2	23224	HP:0000467	Neck muscle weakness
OMIM:614302	SYNE2	23224	HP:0005110	Atrial fibrillation
OMIM:614302	SYNE2	23224	HP:0000006	Autosomal dominant inheritance
OMIM:614302	SYNE2	23224	HP:0003581	Adult onset
OMIM:614302	SYNE2	23224	HP:0007126	Proximal amyotrophy
OMIM:139090	NBEAL2	23218	HP:0000006	Autosomal dominant inheritance
OMIM:139090	NBEAL2	23218	HP:0000421	Epistaxis
OMIM:139090	NBEAL2	23218	HP:0011974	Myelofibrosis
OMIM:139090	NBEAL2	23218	HP:0003676	Progressive
OMIM:139090	NBEAL2	23218	HP:0000007	Autosomal recessive inheritance
OMIM:139090	NBEAL2	23218	HP:0001873	Thrombocytopenia
OMIM:139090	NBEAL2	23218	HP:0000978	Bruising susceptibility
OMIM:139090	NBEAL2	23218	HP:0003010	Prolonged bleeding time
OMIM:139090	NBEAL2	23218	HP:0001744	Splenomegaly
OMIM:139090	GFI1B	8328	HP:0000006	Autosomal dominant inheritance
OMIM:139090	GFI1B	8328	HP:0000421	Epistaxis
OMIM:139090	GFI1B	8328	HP:0011974	Myelofibrosis
OMIM:139090	GFI1B	8328	HP:0003676	Progressive
OMIM:139090	GFI1B	8328	HP:0000007	Autosomal recessive inheritance
OMIM:139090	GFI1B	8328	HP:0001873	Thrombocytopenia
OMIM:139090	GFI1B	8328	HP:0000978	Bruising susceptibility
OMIM:139090	GFI1B	8328	HP:0003010	Prolonged bleeding time
OMIM:139090	GFI1B	8328	HP:0001744	Splenomegaly
OMIM:600634	AIP	9049	HP:0006767	Pituitary prolactin cell adenoma
OMIM:610967	IFITM5	387733	HP:0000006	Autosomal dominant inheritance
OMIM:610967	IFITM5	387733	HP:0000325	Triangular face
OMIM:610967	IFITM5	387733	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:610967	IFITM5	387733	HP:0001382	Joint hypermobility
OMIM:610967	IFITM5	387733	HP:0004322	Short stature
OMIM:610967	IFITM5	387733	HP:0002645	Wormian bones
OMIM:610967	IFITM5	387733	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:610967	IFITM5	387733	HP:0000926	Platyspondyly
OMIM:610967	IFITM5	387733	HP:0000592	Blue sclerae
OMIM:610967	IFITM5	387733	HP:0002757	Recurrent fractures
OMIM:610967	IFITM5	387733	HP:0000938	Osteopenia
OMIM:614378	WDR19	57728	HP:0001382	Joint hypermobility
OMIM:614378	WDR19	57728	HP:0000112	Nephropathy
OMIM:614378	WDR19	57728	HP:0002007	Frontal bossing
OMIM:614378	WDR19	57728	HP:0006532	Recurrent pneumonia
OMIM:614378	WDR19	57728	HP:0000411	Protruding ear
OMIM:614378	WDR19	57728	HP:0000968	Ectodermal dysplasia
OMIM:614378	WDR19	57728	HP:0000973	Cutis laxa
OMIM:614378	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
OMIM:614378	WDR19	57728	HP:0000233	Thin vermilion border
OMIM:614378	WDR19	57728	HP:0010174	Broad phalanx of the toes
OMIM:614378	WDR19	57728	HP:0000540	Hypermetropia
OMIM:614378	WDR19	57728	HP:0000774	Narrow chest
OMIM:614378	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:614378	WDR19	57728	HP:0000767	Pectus excavatum
OMIM:614378	WDR19	57728	HP:0000319	Smooth philtrum
OMIM:614378	WDR19	57728	HP:0000293	Full cheeks
OMIM:614378	WDR19	57728	HP:0009836	Broad distal phalanx of finger
OMIM:614378	WDR19	57728	HP:0004322	Short stature
OMIM:614378	WDR19	57728	HP:0009882	Short distal phalanx of finger
OMIM:614378	WDR19	57728	HP:0004442	Sagittal craniosynostosis
OMIM:614378	WDR19	57728	HP:0010554	Cutaneous finger syndactyly
OMIM:614378	WDR19	57728	HP:0005528	Bone marrow hypocellularity
OMIM:614378	WDR19	57728	HP:0000510	Rod-cone dystrophy
OMIM:614378	WDR19	57728	HP:0001385	Hip dysplasia
OMIM:614378	IFT43	112752	HP:0001382	Joint hypermobility
OMIM:614378	IFT43	112752	HP:0000112	Nephropathy
OMIM:614378	IFT43	112752	HP:0002007	Frontal bossing
OMIM:614378	IFT43	112752	HP:0006532	Recurrent pneumonia
OMIM:614378	IFT43	112752	HP:0000411	Protruding ear
OMIM:614378	IFT43	112752	HP:0000968	Ectodermal dysplasia
OMIM:614378	IFT43	112752	HP:0000973	Cutis laxa
OMIM:614378	IFT43	112752	HP:0003774	Stage 5 chronic kidney disease
OMIM:614378	IFT43	112752	HP:0000233	Thin vermilion border
OMIM:614378	IFT43	112752	HP:0010174	Broad phalanx of the toes
OMIM:614378	IFT43	112752	HP:0000540	Hypermetropia
OMIM:614378	IFT43	112752	HP:0000774	Narrow chest
OMIM:614378	IFT43	112752	HP:0000007	Autosomal recessive inheritance
OMIM:614378	IFT43	112752	HP:0000767	Pectus excavatum
OMIM:614378	IFT43	112752	HP:0000319	Smooth philtrum
OMIM:614378	IFT43	112752	HP:0000293	Full cheeks
OMIM:614378	IFT43	112752	HP:0009836	Broad distal phalanx of finger
OMIM:614378	IFT43	112752	HP:0004322	Short stature
OMIM:614378	IFT43	112752	HP:0009882	Short distal phalanx of finger
OMIM:614378	IFT43	112752	HP:0004442	Sagittal craniosynostosis
OMIM:614378	IFT43	112752	HP:0010554	Cutaneous finger syndactyly
OMIM:614378	IFT43	112752	HP:0005528	Bone marrow hypocellularity
OMIM:614378	IFT43	112752	HP:0000510	Rod-cone dystrophy
OMIM:614378	IFT43	112752	HP:0001385	Hip dysplasia
OMIM:614378	WDR35	57539	HP:0001382	Joint hypermobility
OMIM:614378	WDR35	57539	HP:0000112	Nephropathy
OMIM:614378	WDR35	57539	HP:0002007	Frontal bossing
OMIM:614378	WDR35	57539	HP:0006532	Recurrent pneumonia
OMIM:614378	WDR35	57539	HP:0000411	Protruding ear
OMIM:614378	WDR35	57539	HP:0000968	Ectodermal dysplasia
OMIM:614378	WDR35	57539	HP:0000973	Cutis laxa
OMIM:614378	WDR35	57539	HP:0003774	Stage 5 chronic kidney disease
OMIM:614378	WDR35	57539	HP:0000233	Thin vermilion border
OMIM:614378	WDR35	57539	HP:0010174	Broad phalanx of the toes
OMIM:614378	WDR35	57539	HP:0000540	Hypermetropia
OMIM:614378	WDR35	57539	HP:0000774	Narrow chest
OMIM:614378	WDR35	57539	HP:0000007	Autosomal recessive inheritance
OMIM:614378	WDR35	57539	HP:0000767	Pectus excavatum
OMIM:614378	WDR35	57539	HP:0000319	Smooth philtrum
OMIM:614378	WDR35	57539	HP:0000293	Full cheeks
OMIM:614378	WDR35	57539	HP:0009836	Broad distal phalanx of finger
OMIM:614378	WDR35	57539	HP:0004322	Short stature
OMIM:614378	WDR35	57539	HP:0009882	Short distal phalanx of finger
OMIM:614378	WDR35	57539	HP:0004442	Sagittal craniosynostosis
OMIM:614378	WDR35	57539	HP:0010554	Cutaneous finger syndactyly
OMIM:614378	WDR35	57539	HP:0005528	Bone marrow hypocellularity
OMIM:614378	WDR35	57539	HP:0000510	Rod-cone dystrophy
OMIM:614378	WDR35	57539	HP:0001385	Hip dysplasia
OMIM:614378	IFT122	55764	HP:0001382	Joint hypermobility
OMIM:614378	IFT122	55764	HP:0000112	Nephropathy
OMIM:614378	IFT122	55764	HP:0002007	Frontal bossing
OMIM:614378	IFT122	55764	HP:0006532	Recurrent pneumonia
OMIM:614378	IFT122	55764	HP:0000411	Protruding ear
OMIM:614378	IFT122	55764	HP:0000968	Ectodermal dysplasia
OMIM:614378	IFT122	55764	HP:0000973	Cutis laxa
OMIM:614378	IFT122	55764	HP:0003774	Stage 5 chronic kidney disease
OMIM:614378	IFT122	55764	HP:0000233	Thin vermilion border
OMIM:614378	IFT122	55764	HP:0010174	Broad phalanx of the toes
OMIM:614378	IFT122	55764	HP:0000540	Hypermetropia
OMIM:614378	IFT122	55764	HP:0000774	Narrow chest
OMIM:614378	IFT122	55764	HP:0000007	Autosomal recessive inheritance
OMIM:614378	IFT122	55764	HP:0000767	Pectus excavatum
OMIM:614378	IFT122	55764	HP:0000319	Smooth philtrum
OMIM:614378	IFT122	55764	HP:0000293	Full cheeks
OMIM:614378	IFT122	55764	HP:0009836	Broad distal phalanx of finger
OMIM:614378	IFT122	55764	HP:0004322	Short stature
OMIM:614378	IFT122	55764	HP:0009882	Short distal phalanx of finger
OMIM:614378	IFT122	55764	HP:0004442	Sagittal craniosynostosis
OMIM:614378	IFT122	55764	HP:0010554	Cutaneous finger syndactyly
OMIM:614378	IFT122	55764	HP:0005528	Bone marrow hypocellularity
OMIM:614378	IFT122	55764	HP:0000510	Rod-cone dystrophy
OMIM:614378	IFT122	55764	HP:0001385	Hip dysplasia
ORPHANET:1872	AIPL1	23746	HP:0000662	Nyctalopia
ORPHANET:1872	AIPL1	23746	HP:0000505	Visual impairment
ORPHANET:1872	AIPL1	23746	HP:0000613	Photophobia
ORPHANET:1872	AIPL1	23746	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	AIPL1	23746	HP:0000551	Abnormality of color vision
ORPHANET:1872	PITPNM3	83394	HP:0000662	Nyctalopia
ORPHANET:1872	PITPNM3	83394	HP:0000505	Visual impairment
ORPHANET:1872	PITPNM3	83394	HP:0000613	Photophobia
ORPHANET:1872	PITPNM3	83394	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	PITPNM3	83394	HP:0000551	Abnormality of color vision
ORPHANET:1872	OPN1LW	5956	HP:0000662	Nyctalopia
ORPHANET:1872	OPN1LW	5956	HP:0000505	Visual impairment
ORPHANET:1872	OPN1LW	5956	HP:0000613	Photophobia
ORPHANET:1872	OPN1LW	5956	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	OPN1LW	5956	HP:0000551	Abnormality of color vision
ORPHANET:1872	UNC119	9094	HP:0000662	Nyctalopia
ORPHANET:1872	UNC119	9094	HP:0000505	Visual impairment
ORPHANET:1872	UNC119	9094	HP:0000613	Photophobia
ORPHANET:1872	UNC119	9094	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	UNC119	9094	HP:0000551	Abnormality of color vision
ORPHANET:1872	RPGRIP1	57096	HP:0000662	Nyctalopia
ORPHANET:1872	RPGRIP1	57096	HP:0000505	Visual impairment
ORPHANET:1872	RPGRIP1	57096	HP:0000613	Photophobia
ORPHANET:1872	RPGRIP1	57096	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	RPGRIP1	57096	HP:0000551	Abnormality of color vision
ORPHANET:1872	PRPH2	5961	HP:0000662	Nyctalopia
ORPHANET:1872	PRPH2	5961	HP:0000505	Visual impairment
ORPHANET:1872	PRPH2	5961	HP:0000613	Photophobia
ORPHANET:1872	PRPH2	5961	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	PRPH2	5961	HP:0000551	Abnormality of color vision
ORPHANET:1872	CACNA1F	778	HP:0000662	Nyctalopia
ORPHANET:1872	CACNA1F	778	HP:0000505	Visual impairment
ORPHANET:1872	CACNA1F	778	HP:0000613	Photophobia
ORPHANET:1872	CACNA1F	778	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	CACNA1F	778	HP:0000551	Abnormality of color vision
ORPHANET:1872	PROM1	8842	HP:0000662	Nyctalopia
ORPHANET:1872	PROM1	8842	HP:0000505	Visual impairment
ORPHANET:1872	PROM1	8842	HP:0000613	Photophobia
ORPHANET:1872	PROM1	8842	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	PROM1	8842	HP:0000551	Abnormality of color vision
ORPHANET:1872	DRAM2	128338	HP:0000662	Nyctalopia
ORPHANET:1872	DRAM2	128338	HP:0000505	Visual impairment
ORPHANET:1872	DRAM2	128338	HP:0000613	Photophobia
ORPHANET:1872	DRAM2	128338	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	DRAM2	128338	HP:0000551	Abnormality of color vision
ORPHANET:1872	CACNA2D4	93589	HP:0000662	Nyctalopia
ORPHANET:1872	CACNA2D4	93589	HP:0000505	Visual impairment
ORPHANET:1872	CACNA2D4	93589	HP:0000613	Photophobia
ORPHANET:1872	CACNA2D4	93589	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	CACNA2D4	93589	HP:0000551	Abnormality of color vision
ORPHANET:1872	RAB28	9364	HP:0000662	Nyctalopia
ORPHANET:1872	RAB28	9364	HP:0000505	Visual impairment
ORPHANET:1872	RAB28	9364	HP:0000613	Photophobia
ORPHANET:1872	RAB28	9364	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	RAB28	9364	HP:0000551	Abnormality of color vision
ORPHANET:1872	RIMS1	22999	HP:0000662	Nyctalopia
ORPHANET:1872	RIMS1	22999	HP:0000505	Visual impairment
ORPHANET:1872	RIMS1	22999	HP:0000613	Photophobia
ORPHANET:1872	RIMS1	22999	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	RIMS1	22999	HP:0000551	Abnormality of color vision
ORPHANET:1872	RPGR	6103	HP:0000662	Nyctalopia
ORPHANET:1872	RPGR	6103	HP:0000505	Visual impairment
ORPHANET:1872	RPGR	6103	HP:0000613	Photophobia
ORPHANET:1872	RPGR	6103	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	RPGR	6103	HP:0000551	Abnormality of color vision
ORPHANET:1872	ABCA4	24	HP:0000662	Nyctalopia
ORPHANET:1872	ABCA4	24	HP:0000505	Visual impairment
ORPHANET:1872	ABCA4	24	HP:0000613	Photophobia
ORPHANET:1872	ABCA4	24	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	ABCA4	24	HP:0000551	Abnormality of color vision
ORPHANET:1872	SEMA4A	64218	HP:0000662	Nyctalopia
ORPHANET:1872	SEMA4A	64218	HP:0000505	Visual impairment
ORPHANET:1872	SEMA4A	64218	HP:0000613	Photophobia
ORPHANET:1872	SEMA4A	64218	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	SEMA4A	64218	HP:0000551	Abnormality of color vision
ORPHANET:1872	C8ORF37	157657	HP:0000662	Nyctalopia
ORPHANET:1872	C8ORF37	157657	HP:0000505	Visual impairment
ORPHANET:1872	C8ORF37	157657	HP:0000613	Photophobia
ORPHANET:1872	C8ORF37	157657	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	C8ORF37	157657	HP:0000551	Abnormality of color vision
ORPHANET:1872	OPN1MW	2652	HP:0000662	Nyctalopia
ORPHANET:1872	OPN1MW	2652	HP:0000505	Visual impairment
ORPHANET:1872	OPN1MW	2652	HP:0000613	Photophobia
ORPHANET:1872	OPN1MW	2652	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	OPN1MW	2652	HP:0000551	Abnormality of color vision
ORPHANET:1872	GUCA1A	2978	HP:0000662	Nyctalopia
ORPHANET:1872	GUCA1A	2978	HP:0000505	Visual impairment
ORPHANET:1872	GUCA1A	2978	HP:0000613	Photophobia
ORPHANET:1872	GUCA1A	2978	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	GUCA1A	2978	HP:0000551	Abnormality of color vision
ORPHANET:1872	RAX2	84839	HP:0000662	Nyctalopia
ORPHANET:1872	RAX2	84839	HP:0000505	Visual impairment
ORPHANET:1872	RAX2	84839	HP:0000613	Photophobia
ORPHANET:1872	RAX2	84839	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	RAX2	84839	HP:0000551	Abnormality of color vision
ORPHANET:1872	CNGA3	1261	HP:0000662	Nyctalopia
ORPHANET:1872	CNGA3	1261	HP:0000505	Visual impairment
ORPHANET:1872	CNGA3	1261	HP:0000613	Photophobia
ORPHANET:1872	CNGA3	1261	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	CNGA3	1261	HP:0000551	Abnormality of color vision
ORPHANET:1872	ADAM9	8754	HP:0000662	Nyctalopia
ORPHANET:1872	ADAM9	8754	HP:0000505	Visual impairment
ORPHANET:1872	ADAM9	8754	HP:0000613	Photophobia
ORPHANET:1872	ADAM9	8754	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	ADAM9	8754	HP:0000551	Abnormality of color vision
ORPHANET:1872	CDHR1	92211	HP:0000662	Nyctalopia
ORPHANET:1872	CDHR1	92211	HP:0000505	Visual impairment
ORPHANET:1872	CDHR1	92211	HP:0000613	Photophobia
ORPHANET:1872	CDHR1	92211	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	CDHR1	92211	HP:0000551	Abnormality of color vision
ORPHANET:1872	TTLL5	23093	HP:0000662	Nyctalopia
ORPHANET:1872	TTLL5	23093	HP:0000505	Visual impairment
ORPHANET:1872	TTLL5	23093	HP:0000613	Photophobia
ORPHANET:1872	TTLL5	23093	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	TTLL5	23093	HP:0000551	Abnormality of color vision
ORPHANET:1872	GUCY2D	3000	HP:0000662	Nyctalopia
ORPHANET:1872	GUCY2D	3000	HP:0000505	Visual impairment
ORPHANET:1872	GUCY2D	3000	HP:0000613	Photophobia
ORPHANET:1872	GUCY2D	3000	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	GUCY2D	3000	HP:0000551	Abnormality of color vision
ORPHANET:1872	POC1B	282809	HP:0000662	Nyctalopia
ORPHANET:1872	POC1B	282809	HP:0000505	Visual impairment
ORPHANET:1872	POC1B	282809	HP:0000613	Photophobia
ORPHANET:1872	POC1B	282809	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	POC1B	282809	HP:0000551	Abnormality of color vision
ORPHANET:1872	CRX	1406	HP:0000662	Nyctalopia
ORPHANET:1872	CRX	1406	HP:0000505	Visual impairment
ORPHANET:1872	CRX	1406	HP:0000613	Photophobia
ORPHANET:1872	CRX	1406	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1872	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:608236	ARHGEF10	9639	HP:0000006	Autosomal dominant inheritance
OMIM:608236	ARHGEF10	9639	HP:0011096	Peripheral demyelination
OMIM:608236	ARHGEF10	9639	HP:0003581	Adult onset
OMIM:608236	ARHGEF10	9639	HP:0000762	Decreased nerve conduction velocity
OMIM:608236	ARHGEF10	9639	HP:0003383	Onion bulb formation
OMIM:115200	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:115200	LMNA	4000	HP:0004308	Ventricular arrhythmia
OMIM:115200	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:115200	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:115200	LMNA	4000	HP:0005110	Atrial fibrillation
OMIM:115200	LMNA	4000	HP:0004749	Atrial flutter
OMIM:613123	SCN10A	6336	HP:0004756	Ventricular tachycardia
OMIM:613123	SCN10A	6336	HP:0012251	ST segment elevation
OMIM:613123	GPD1L	23171	HP:0004756	Ventricular tachycardia
OMIM:613123	GPD1L	23171	HP:0012251	ST segment elevation
OMIM:613123	HCN4	10021	HP:0004756	Ventricular tachycardia
OMIM:613123	HCN4	10021	HP:0012251	ST segment elevation
OMIM:613123	CACNA1C	775	HP:0004756	Ventricular tachycardia
OMIM:613123	CACNA1C	775	HP:0012251	ST segment elevation
OMIM:613123	KCND3	3752	HP:0004756	Ventricular tachycardia
OMIM:613123	KCND3	3752	HP:0012251	ST segment elevation
OMIM:613123	TRPM4	54795	HP:0004756	Ventricular tachycardia
OMIM:613123	TRPM4	54795	HP:0012251	ST segment elevation
OMIM:613123	CACNA2D1	781	HP:0004756	Ventricular tachycardia
OMIM:613123	CACNA2D1	781	HP:0012251	ST segment elevation
OMIM:613123	CACNB2	783	HP:0004756	Ventricular tachycardia
OMIM:613123	CACNB2	783	HP:0012251	ST segment elevation
OMIM:613123	SCN1B	6324	HP:0004756	Ventricular tachycardia
OMIM:613123	SCN1B	6324	HP:0012251	ST segment elevation
OMIM:613123	KCNJ8	3764	HP:0004756	Ventricular tachycardia
OMIM:613123	KCNJ8	3764	HP:0012251	ST segment elevation
OMIM:613123	KCNE3	10008	HP:0004756	Ventricular tachycardia
OMIM:613123	KCNE3	10008	HP:0012251	ST segment elevation
OMIM:613123	SCN3B	55800	HP:0004756	Ventricular tachycardia
OMIM:613123	SCN3B	55800	HP:0012251	ST segment elevation
OMIM:613123	SCN5A	6331	HP:0004756	Ventricular tachycardia
OMIM:613123	SCN5A	6331	HP:0012251	ST segment elevation
OMIM:613123	SLMAP	7871	HP:0004756	Ventricular tachycardia
OMIM:613123	SLMAP	7871	HP:0012251	ST segment elevation
ORPHANET:55654	RPL21	6144	HP:0002224	Woolly hair
ORPHANET:55654	RPL21	6144	HP:0000962	Hyperkeratosis
ORPHANET:55654	RPL21	6144	HP:0001596	Alopecia
ORPHANET:55654	RPL21	6144	HP:0000499	Abnormality of the eyelashes
ORPHANET:55654	RPL21	6144	HP:0000989	Pruritus
ORPHANET:55654	RPL21	6144	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:55654	LPAR6	10161	HP:0002224	Woolly hair
ORPHANET:55654	LPAR6	10161	HP:0000962	Hyperkeratosis
ORPHANET:55654	LPAR6	10161	HP:0001596	Alopecia
ORPHANET:55654	LPAR6	10161	HP:0000499	Abnormality of the eyelashes
ORPHANET:55654	LPAR6	10161	HP:0000989	Pruritus
ORPHANET:55654	LPAR6	10161	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:55654	DSG4	147409	HP:0002224	Woolly hair
ORPHANET:55654	DSG4	147409	HP:0000962	Hyperkeratosis
ORPHANET:55654	DSG4	147409	HP:0001596	Alopecia
ORPHANET:55654	DSG4	147409	HP:0000499	Abnormality of the eyelashes
ORPHANET:55654	DSG4	147409	HP:0000989	Pruritus
ORPHANET:55654	DSG4	147409	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:55654	APCDD1	147495	HP:0002224	Woolly hair
ORPHANET:55654	APCDD1	147495	HP:0000962	Hyperkeratosis
ORPHANET:55654	APCDD1	147495	HP:0001596	Alopecia
ORPHANET:55654	APCDD1	147495	HP:0000499	Abnormality of the eyelashes
ORPHANET:55654	APCDD1	147495	HP:0000989	Pruritus
ORPHANET:55654	APCDD1	147495	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:55654	SNRPE	6635	HP:0002224	Woolly hair
ORPHANET:55654	SNRPE	6635	HP:0000962	Hyperkeratosis
ORPHANET:55654	SNRPE	6635	HP:0001596	Alopecia
ORPHANET:55654	SNRPE	6635	HP:0000499	Abnormality of the eyelashes
ORPHANET:55654	SNRPE	6635	HP:0000989	Pruritus
ORPHANET:55654	SNRPE	6635	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:55654	LIPH	200879	HP:0002224	Woolly hair
ORPHANET:55654	LIPH	200879	HP:0000962	Hyperkeratosis
ORPHANET:55654	LIPH	200879	HP:0001596	Alopecia
ORPHANET:55654	LIPH	200879	HP:0000499	Abnormality of the eyelashes
ORPHANET:55654	LIPH	200879	HP:0000989	Pruritus
ORPHANET:55654	LIPH	200879	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:608358	MYH7	4625	HP:0002515	Waddling gait
OMIM:608358	MYH7	4625	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:608358	MYH7	4625	HP:0003458	EMG: myopathic abnormalities
OMIM:608358	MYH7	4625	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608358	MYH7	4625	HP:0003674	Onset
OMIM:608358	MYH7	4625	HP:0001626	Abnormality of the cardiovascular system
OMIM:608358	MYH7	4625	HP:0003707	Calf muscle pseudohypertrophy
OMIM:608358	MYH7	4625	HP:0003324	Generalized muscle weakness
OMIM:608358	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:608358	MYH7	4625	HP:0003677	Slow progression
OMIM:608358	MYH7	4625	HP:0003691	Scapular winging
OMIM:605711	NFU1	27247	HP:0000007	Autosomal recessive inheritance
OMIM:605711	NFU1	27247	HP:0001254	Lethargy
OMIM:605711	NFU1	27247	HP:0001508	Failure to thrive
OMIM:605711	NFU1	27247	HP:0002878	Respiratory failure
OMIM:605711	NFU1	27247	HP:0001263	Global developmental delay
OMIM:605711	NFU1	27247	HP:0001324	Muscle weakness
OMIM:605711	NFU1	27247	HP:0011968	Feeding difficulties
OMIM:605711	NFU1	27247	HP:0003128	Lactic acidosis
OMIM:601820	KCNJ11	3767	HP:0001943	Hypoglycemia
OMIM:601820	KCNJ11	3767	HP:0000007	Autosomal recessive inheritance
OMIM:615023	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:615023	ALOXE3	59344	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615023	ALOX12B	242	HP:0000007	Autosomal recessive inheritance
OMIM:615023	ALOX12B	242	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615023	CERS3	204219	HP:0000007	Autosomal recessive inheritance
OMIM:615023	CERS3	204219	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615023	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:615023	ABCA12	26154	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615023	TGM1	7051	HP:0000007	Autosomal recessive inheritance
OMIM:615023	TGM1	7051	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615023	PNPLA1	285848	HP:0000007	Autosomal recessive inheritance
OMIM:615023	PNPLA1	285848	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:615023	NIPAL4	348938	HP:0000007	Autosomal recessive inheritance
OMIM:615023	NIPAL4	348938	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:188400	COMT	1312	HP:0000821	Hypothyroidism
OMIM:188400	COMT	1312	HP:0000218	High palate
OMIM:188400	COMT	1312	HP:0000122	Unilateral renal agenesis
OMIM:188400	COMT	1312	HP:0000193	Bifid uvula
OMIM:188400	COMT	1312	HP:0011611	Interrupted aortic arch
OMIM:188400	COMT	1312	HP:0001513	Obesity
OMIM:188400	COMT	1312	HP:0000581	Blepharophimosis
OMIM:188400	COMT	1312	HP:0000646	Amblyopia
OMIM:188400	COMT	1312	HP:0000777	Abnormality of the thymus
OMIM:188400	COMT	1312	HP:0001081	Cholelithiasis
OMIM:188400	COMT	1312	HP:0000023	Inguinal hernia
OMIM:188400	COMT	1312	HP:0012745	Short palpebral fissure
OMIM:188400	COMT	1312	HP:0002719	Recurrent infections
OMIM:188400	COMT	1312	HP:0000110	Renal dysplasia
OMIM:188400	COMT	1312	HP:0004322	Short stature
OMIM:188400	COMT	1312	HP:0008211	Parathyroid agenesis
OMIM:188400	COMT	1312	HP:0000577	Exotropia
OMIM:188400	COMT	1312	HP:0007018	Attention deficit hyperactivity disorder
OMIM:188400	COMT	1312	HP:0001061	Acne
OMIM:188400	COMT	1312	HP:0000860	Parathyroid hypoplasia
OMIM:188400	COMT	1312	HP:0002627	Right aortic arch with mirror image branching
OMIM:188400	COMT	1312	HP:0001328	Specific learning disability
OMIM:188400	COMT	1312	HP:0005435	Impaired T cell function
OMIM:188400	COMT	1312	HP:0000347	Micrognathia
OMIM:188400	COMT	1312	HP:0001629	Ventricular septal defect
OMIM:188400	COMT	1312	HP:0001537	Umbilical hernia
OMIM:188400	COMT	1312	HP:0001263	Global developmental delay
OMIM:188400	COMT	1312	HP:0001636	Tetralogy of Fallot
OMIM:188400	COMT	1312	HP:0000369	Low-set ears
OMIM:188400	COMT	1312	HP:0001611	Nasal speech
OMIM:188400	COMT	1312	HP:0000627	Posterior embryotoxon
OMIM:188400	COMT	1312	HP:0100753	Schizophrenia
OMIM:188400	COMT	1312	HP:0000370	Abnormality of the middle ear
OMIM:188400	COMT	1312	HP:0002901	Hypocalcemia
OMIM:188400	COMT	1312	HP:0007302	Bipolar affective disorder
OMIM:188400	COMT	1312	HP:0000006	Autosomal dominant inheritance
OMIM:188400	COMT	1312	HP:0001660	Truncus arteriosus
OMIM:188400	COMT	1312	HP:0100541	Femoral hernia
OMIM:188400	COMT	1312	HP:0000126	Hydronephrosis
OMIM:188400	COMT	1312	HP:0001250	Seizures
OMIM:188400	COMT	1312	HP:0000565	Esotropia
OMIM:188400	COMT	1312	HP:0000316	Hypertelorism
OMIM:188400	COMT	1312	HP:0000750	Delayed speech and language development
OMIM:188400	COMT	1312	HP:0001643	Patent ductus arteriosus
OMIM:188400	COMT	1312	HP:0000175	Cleft palate
OMIM:188400	COMT	1312	HP:0002650	Scoliosis
OMIM:188400	COMT	1312	HP:0001051	Seborrheic dermatitis
OMIM:188400	COMT	1312	HP:0000647	Sclerocornea
OMIM:188400	COMT	1312	HP:0001281	Tetany
OMIM:188400	COMT	1312	HP:0000322	Short philtrum
OMIM:188400	TBX1	6899	HP:0000821	Hypothyroidism
OMIM:188400	TBX1	6899	HP:0000218	High palate
OMIM:188400	TBX1	6899	HP:0000122	Unilateral renal agenesis
OMIM:188400	TBX1	6899	HP:0000193	Bifid uvula
OMIM:188400	TBX1	6899	HP:0011611	Interrupted aortic arch
OMIM:188400	TBX1	6899	HP:0001513	Obesity
OMIM:188400	TBX1	6899	HP:0000581	Blepharophimosis
OMIM:188400	TBX1	6899	HP:0000646	Amblyopia
OMIM:188400	TBX1	6899	HP:0000777	Abnormality of the thymus
OMIM:188400	TBX1	6899	HP:0001081	Cholelithiasis
OMIM:188400	TBX1	6899	HP:0000023	Inguinal hernia
OMIM:188400	TBX1	6899	HP:0012745	Short palpebral fissure
OMIM:188400	TBX1	6899	HP:0002719	Recurrent infections
OMIM:188400	TBX1	6899	HP:0000110	Renal dysplasia
OMIM:188400	TBX1	6899	HP:0004322	Short stature
OMIM:188400	TBX1	6899	HP:0008211	Parathyroid agenesis
OMIM:188400	TBX1	6899	HP:0000577	Exotropia
OMIM:188400	TBX1	6899	HP:0007018	Attention deficit hyperactivity disorder
OMIM:188400	TBX1	6899	HP:0001061	Acne
OMIM:188400	TBX1	6899	HP:0000860	Parathyroid hypoplasia
OMIM:188400	TBX1	6899	HP:0002627	Right aortic arch with mirror image branching
OMIM:188400	TBX1	6899	HP:0001328	Specific learning disability
OMIM:188400	TBX1	6899	HP:0005435	Impaired T cell function
OMIM:188400	TBX1	6899	HP:0000347	Micrognathia
OMIM:188400	TBX1	6899	HP:0001629	Ventricular septal defect
OMIM:188400	TBX1	6899	HP:0001537	Umbilical hernia
OMIM:188400	TBX1	6899	HP:0001263	Global developmental delay
OMIM:188400	TBX1	6899	HP:0001636	Tetralogy of Fallot
OMIM:188400	TBX1	6899	HP:0000369	Low-set ears
OMIM:188400	TBX1	6899	HP:0001611	Nasal speech
OMIM:188400	TBX1	6899	HP:0000627	Posterior embryotoxon
OMIM:188400	TBX1	6899	HP:0100753	Schizophrenia
OMIM:188400	TBX1	6899	HP:0000370	Abnormality of the middle ear
OMIM:188400	TBX1	6899	HP:0002901	Hypocalcemia
OMIM:188400	TBX1	6899	HP:0007302	Bipolar affective disorder
OMIM:188400	TBX1	6899	HP:0000006	Autosomal dominant inheritance
OMIM:188400	TBX1	6899	HP:0001660	Truncus arteriosus
OMIM:188400	TBX1	6899	HP:0100541	Femoral hernia
OMIM:188400	TBX1	6899	HP:0000126	Hydronephrosis
OMIM:188400	TBX1	6899	HP:0001250	Seizures
OMIM:188400	TBX1	6899	HP:0000565	Esotropia
OMIM:188400	TBX1	6899	HP:0000316	Hypertelorism
OMIM:188400	TBX1	6899	HP:0000750	Delayed speech and language development
OMIM:188400	TBX1	6899	HP:0001643	Patent ductus arteriosus
OMIM:188400	TBX1	6899	HP:0000175	Cleft palate
OMIM:188400	TBX1	6899	HP:0002650	Scoliosis
OMIM:188400	TBX1	6899	HP:0001051	Seborrheic dermatitis
OMIM:188400	TBX1	6899	HP:0000647	Sclerocornea
OMIM:188400	TBX1	6899	HP:0001281	Tetany
OMIM:188400	TBX1	6899	HP:0000322	Short philtrum
OMIM:188400	ARVCF	421	HP:0000821	Hypothyroidism
OMIM:188400	ARVCF	421	HP:0000218	High palate
OMIM:188400	ARVCF	421	HP:0000122	Unilateral renal agenesis
OMIM:188400	ARVCF	421	HP:0000193	Bifid uvula
OMIM:188400	ARVCF	421	HP:0011611	Interrupted aortic arch
OMIM:188400	ARVCF	421	HP:0001513	Obesity
OMIM:188400	ARVCF	421	HP:0000581	Blepharophimosis
OMIM:188400	ARVCF	421	HP:0000646	Amblyopia
OMIM:188400	ARVCF	421	HP:0000777	Abnormality of the thymus
OMIM:188400	ARVCF	421	HP:0001081	Cholelithiasis
OMIM:188400	ARVCF	421	HP:0000023	Inguinal hernia
OMIM:188400	ARVCF	421	HP:0012745	Short palpebral fissure
OMIM:188400	ARVCF	421	HP:0002719	Recurrent infections
OMIM:188400	ARVCF	421	HP:0000110	Renal dysplasia
OMIM:188400	ARVCF	421	HP:0004322	Short stature
OMIM:188400	ARVCF	421	HP:0008211	Parathyroid agenesis
OMIM:188400	ARVCF	421	HP:0000577	Exotropia
OMIM:188400	ARVCF	421	HP:0007018	Attention deficit hyperactivity disorder
OMIM:188400	ARVCF	421	HP:0001061	Acne
OMIM:188400	ARVCF	421	HP:0000860	Parathyroid hypoplasia
OMIM:188400	ARVCF	421	HP:0002627	Right aortic arch with mirror image branching
OMIM:188400	ARVCF	421	HP:0001328	Specific learning disability
OMIM:188400	ARVCF	421	HP:0005435	Impaired T cell function
OMIM:188400	ARVCF	421	HP:0000347	Micrognathia
OMIM:188400	ARVCF	421	HP:0001629	Ventricular septal defect
OMIM:188400	ARVCF	421	HP:0001537	Umbilical hernia
OMIM:188400	ARVCF	421	HP:0001263	Global developmental delay
OMIM:188400	ARVCF	421	HP:0001636	Tetralogy of Fallot
OMIM:188400	ARVCF	421	HP:0000369	Low-set ears
OMIM:188400	ARVCF	421	HP:0001611	Nasal speech
OMIM:188400	ARVCF	421	HP:0000627	Posterior embryotoxon
OMIM:188400	ARVCF	421	HP:0100753	Schizophrenia
OMIM:188400	ARVCF	421	HP:0000370	Abnormality of the middle ear
OMIM:188400	ARVCF	421	HP:0002901	Hypocalcemia
OMIM:188400	ARVCF	421	HP:0007302	Bipolar affective disorder
OMIM:188400	ARVCF	421	HP:0000006	Autosomal dominant inheritance
OMIM:188400	ARVCF	421	HP:0001660	Truncus arteriosus
OMIM:188400	ARVCF	421	HP:0100541	Femoral hernia
OMIM:188400	ARVCF	421	HP:0000126	Hydronephrosis
OMIM:188400	ARVCF	421	HP:0001250	Seizures
OMIM:188400	ARVCF	421	HP:0000565	Esotropia
OMIM:188400	ARVCF	421	HP:0000316	Hypertelorism
OMIM:188400	ARVCF	421	HP:0000750	Delayed speech and language development
OMIM:188400	ARVCF	421	HP:0001643	Patent ductus arteriosus
OMIM:188400	ARVCF	421	HP:0000175	Cleft palate
OMIM:188400	ARVCF	421	HP:0002650	Scoliosis
OMIM:188400	ARVCF	421	HP:0001051	Seborrheic dermatitis
OMIM:188400	ARVCF	421	HP:0000647	Sclerocornea
OMIM:188400	ARVCF	421	HP:0001281	Tetany
OMIM:188400	ARVCF	421	HP:0000322	Short philtrum
OMIM:188400	UFD1L	7353	HP:0000821	Hypothyroidism
OMIM:188400	UFD1L	7353	HP:0000218	High palate
OMIM:188400	UFD1L	7353	HP:0000122	Unilateral renal agenesis
OMIM:188400	UFD1L	7353	HP:0000193	Bifid uvula
OMIM:188400	UFD1L	7353	HP:0011611	Interrupted aortic arch
OMIM:188400	UFD1L	7353	HP:0001513	Obesity
OMIM:188400	UFD1L	7353	HP:0000581	Blepharophimosis
OMIM:188400	UFD1L	7353	HP:0000646	Amblyopia
OMIM:188400	UFD1L	7353	HP:0000777	Abnormality of the thymus
OMIM:188400	UFD1L	7353	HP:0001081	Cholelithiasis
OMIM:188400	UFD1L	7353	HP:0000023	Inguinal hernia
OMIM:188400	UFD1L	7353	HP:0012745	Short palpebral fissure
OMIM:188400	UFD1L	7353	HP:0002719	Recurrent infections
OMIM:188400	UFD1L	7353	HP:0000110	Renal dysplasia
OMIM:188400	UFD1L	7353	HP:0004322	Short stature
OMIM:188400	UFD1L	7353	HP:0008211	Parathyroid agenesis
OMIM:188400	UFD1L	7353	HP:0000577	Exotropia
OMIM:188400	UFD1L	7353	HP:0007018	Attention deficit hyperactivity disorder
OMIM:188400	UFD1L	7353	HP:0001061	Acne
OMIM:188400	UFD1L	7353	HP:0000860	Parathyroid hypoplasia
OMIM:188400	UFD1L	7353	HP:0002627	Right aortic arch with mirror image branching
OMIM:188400	UFD1L	7353	HP:0001328	Specific learning disability
OMIM:188400	UFD1L	7353	HP:0005435	Impaired T cell function
OMIM:188400	UFD1L	7353	HP:0000347	Micrognathia
OMIM:188400	UFD1L	7353	HP:0001629	Ventricular septal defect
OMIM:188400	UFD1L	7353	HP:0001537	Umbilical hernia
OMIM:188400	UFD1L	7353	HP:0001263	Global developmental delay
OMIM:188400	UFD1L	7353	HP:0001636	Tetralogy of Fallot
OMIM:188400	UFD1L	7353	HP:0000369	Low-set ears
OMIM:188400	UFD1L	7353	HP:0001611	Nasal speech
OMIM:188400	UFD1L	7353	HP:0000627	Posterior embryotoxon
OMIM:188400	UFD1L	7353	HP:0100753	Schizophrenia
OMIM:188400	UFD1L	7353	HP:0000370	Abnormality of the middle ear
OMIM:188400	UFD1L	7353	HP:0002901	Hypocalcemia
OMIM:188400	UFD1L	7353	HP:0007302	Bipolar affective disorder
OMIM:188400	UFD1L	7353	HP:0000006	Autosomal dominant inheritance
OMIM:188400	UFD1L	7353	HP:0001660	Truncus arteriosus
OMIM:188400	UFD1L	7353	HP:0100541	Femoral hernia
OMIM:188400	UFD1L	7353	HP:0000126	Hydronephrosis
OMIM:188400	UFD1L	7353	HP:0001250	Seizures
OMIM:188400	UFD1L	7353	HP:0000565	Esotropia
OMIM:188400	UFD1L	7353	HP:0000316	Hypertelorism
OMIM:188400	UFD1L	7353	HP:0000750	Delayed speech and language development
OMIM:188400	UFD1L	7353	HP:0001643	Patent ductus arteriosus
OMIM:188400	UFD1L	7353	HP:0000175	Cleft palate
OMIM:188400	UFD1L	7353	HP:0002650	Scoliosis
OMIM:188400	UFD1L	7353	HP:0001051	Seborrheic dermatitis
OMIM:188400	UFD1L	7353	HP:0000647	Sclerocornea
OMIM:188400	UFD1L	7353	HP:0001281	Tetany
OMIM:188400	UFD1L	7353	HP:0000322	Short philtrum
OMIM:188400	HIRA	7290	HP:0000821	Hypothyroidism
OMIM:188400	HIRA	7290	HP:0000218	High palate
OMIM:188400	HIRA	7290	HP:0000122	Unilateral renal agenesis
OMIM:188400	HIRA	7290	HP:0000193	Bifid uvula
OMIM:188400	HIRA	7290	HP:0011611	Interrupted aortic arch
OMIM:188400	HIRA	7290	HP:0001513	Obesity
OMIM:188400	HIRA	7290	HP:0000581	Blepharophimosis
OMIM:188400	HIRA	7290	HP:0000646	Amblyopia
OMIM:188400	HIRA	7290	HP:0000777	Abnormality of the thymus
OMIM:188400	HIRA	7290	HP:0001081	Cholelithiasis
OMIM:188400	HIRA	7290	HP:0000023	Inguinal hernia
OMIM:188400	HIRA	7290	HP:0012745	Short palpebral fissure
OMIM:188400	HIRA	7290	HP:0002719	Recurrent infections
OMIM:188400	HIRA	7290	HP:0000110	Renal dysplasia
OMIM:188400	HIRA	7290	HP:0004322	Short stature
OMIM:188400	HIRA	7290	HP:0008211	Parathyroid agenesis
OMIM:188400	HIRA	7290	HP:0000577	Exotropia
OMIM:188400	HIRA	7290	HP:0007018	Attention deficit hyperactivity disorder
OMIM:188400	HIRA	7290	HP:0001061	Acne
OMIM:188400	HIRA	7290	HP:0000860	Parathyroid hypoplasia
OMIM:188400	HIRA	7290	HP:0002627	Right aortic arch with mirror image branching
OMIM:188400	HIRA	7290	HP:0001328	Specific learning disability
OMIM:188400	HIRA	7290	HP:0005435	Impaired T cell function
OMIM:188400	HIRA	7290	HP:0000347	Micrognathia
OMIM:188400	HIRA	7290	HP:0001629	Ventricular septal defect
OMIM:188400	HIRA	7290	HP:0001537	Umbilical hernia
OMIM:188400	HIRA	7290	HP:0001263	Global developmental delay
OMIM:188400	HIRA	7290	HP:0001636	Tetralogy of Fallot
OMIM:188400	HIRA	7290	HP:0000369	Low-set ears
OMIM:188400	HIRA	7290	HP:0001611	Nasal speech
OMIM:188400	HIRA	7290	HP:0000627	Posterior embryotoxon
OMIM:188400	HIRA	7290	HP:0100753	Schizophrenia
OMIM:188400	HIRA	7290	HP:0000370	Abnormality of the middle ear
OMIM:188400	HIRA	7290	HP:0002901	Hypocalcemia
OMIM:188400	HIRA	7290	HP:0007302	Bipolar affective disorder
OMIM:188400	HIRA	7290	HP:0000006	Autosomal dominant inheritance
OMIM:188400	HIRA	7290	HP:0001660	Truncus arteriosus
OMIM:188400	HIRA	7290	HP:0100541	Femoral hernia
OMIM:188400	HIRA	7290	HP:0000126	Hydronephrosis
OMIM:188400	HIRA	7290	HP:0001250	Seizures
OMIM:188400	HIRA	7290	HP:0000565	Esotropia
OMIM:188400	HIRA	7290	HP:0000316	Hypertelorism
OMIM:188400	HIRA	7290	HP:0000750	Delayed speech and language development
OMIM:188400	HIRA	7290	HP:0001643	Patent ductus arteriosus
OMIM:188400	HIRA	7290	HP:0000175	Cleft palate
OMIM:188400	HIRA	7290	HP:0002650	Scoliosis
OMIM:188400	HIRA	7290	HP:0001051	Seborrheic dermatitis
OMIM:188400	HIRA	7290	HP:0000647	Sclerocornea
OMIM:188400	HIRA	7290	HP:0001281	Tetany
OMIM:188400	HIRA	7290	HP:0000322	Short philtrum
OMIM:188400	GP1BB	2812	HP:0000821	Hypothyroidism
OMIM:188400	GP1BB	2812	HP:0000218	High palate
OMIM:188400	GP1BB	2812	HP:0000122	Unilateral renal agenesis
OMIM:188400	GP1BB	2812	HP:0000193	Bifid uvula
OMIM:188400	GP1BB	2812	HP:0011611	Interrupted aortic arch
OMIM:188400	GP1BB	2812	HP:0001513	Obesity
OMIM:188400	GP1BB	2812	HP:0000581	Blepharophimosis
OMIM:188400	GP1BB	2812	HP:0000646	Amblyopia
OMIM:188400	GP1BB	2812	HP:0000777	Abnormality of the thymus
OMIM:188400	GP1BB	2812	HP:0001081	Cholelithiasis
OMIM:188400	GP1BB	2812	HP:0000023	Inguinal hernia
OMIM:188400	GP1BB	2812	HP:0012745	Short palpebral fissure
OMIM:188400	GP1BB	2812	HP:0002719	Recurrent infections
OMIM:188400	GP1BB	2812	HP:0000110	Renal dysplasia
OMIM:188400	GP1BB	2812	HP:0004322	Short stature
OMIM:188400	GP1BB	2812	HP:0008211	Parathyroid agenesis
OMIM:188400	GP1BB	2812	HP:0000577	Exotropia
OMIM:188400	GP1BB	2812	HP:0007018	Attention deficit hyperactivity disorder
OMIM:188400	GP1BB	2812	HP:0001061	Acne
OMIM:188400	GP1BB	2812	HP:0000860	Parathyroid hypoplasia
OMIM:188400	GP1BB	2812	HP:0002627	Right aortic arch with mirror image branching
OMIM:188400	GP1BB	2812	HP:0001328	Specific learning disability
OMIM:188400	GP1BB	2812	HP:0005435	Impaired T cell function
OMIM:188400	GP1BB	2812	HP:0000347	Micrognathia
OMIM:188400	GP1BB	2812	HP:0001629	Ventricular septal defect
OMIM:188400	GP1BB	2812	HP:0001537	Umbilical hernia
OMIM:188400	GP1BB	2812	HP:0001263	Global developmental delay
OMIM:188400	GP1BB	2812	HP:0001636	Tetralogy of Fallot
OMIM:188400	GP1BB	2812	HP:0000369	Low-set ears
OMIM:188400	GP1BB	2812	HP:0001611	Nasal speech
OMIM:188400	GP1BB	2812	HP:0000627	Posterior embryotoxon
OMIM:188400	GP1BB	2812	HP:0100753	Schizophrenia
OMIM:188400	GP1BB	2812	HP:0000370	Abnormality of the middle ear
OMIM:188400	GP1BB	2812	HP:0002901	Hypocalcemia
OMIM:188400	GP1BB	2812	HP:0007302	Bipolar affective disorder
OMIM:188400	GP1BB	2812	HP:0000006	Autosomal dominant inheritance
OMIM:188400	GP1BB	2812	HP:0001660	Truncus arteriosus
OMIM:188400	GP1BB	2812	HP:0100541	Femoral hernia
OMIM:188400	GP1BB	2812	HP:0000126	Hydronephrosis
OMIM:188400	GP1BB	2812	HP:0001250	Seizures
OMIM:188400	GP1BB	2812	HP:0000565	Esotropia
OMIM:188400	GP1BB	2812	HP:0000316	Hypertelorism
OMIM:188400	GP1BB	2812	HP:0000750	Delayed speech and language development
OMIM:188400	GP1BB	2812	HP:0001643	Patent ductus arteriosus
OMIM:188400	GP1BB	2812	HP:0000175	Cleft palate
OMIM:188400	GP1BB	2812	HP:0002650	Scoliosis
OMIM:188400	GP1BB	2812	HP:0001051	Seborrheic dermatitis
OMIM:188400	GP1BB	2812	HP:0000647	Sclerocornea
OMIM:188400	GP1BB	2812	HP:0001281	Tetany
OMIM:188400	GP1BB	2812	HP:0000322	Short philtrum
OMIM:608423	TNPO3	23534	HP:0001371	Flexion contracture
OMIM:608423	TNPO3	23534	HP:0003547	Shoulder girdle muscle weakness
OMIM:608423	TNPO3	23534	HP:0003691	Scapular winging
OMIM:608423	TNPO3	23534	HP:0003810	Late-onset distal muscle weakness
OMIM:608423	TNPO3	23534	HP:0009025	Increased connective tissue
OMIM:608423	TNPO3	23534	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:608423	TNPO3	23534	HP:0003621	Juvenile onset
OMIM:608423	TNPO3	23534	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:608423	TNPO3	23534	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608423	TNPO3	23534	HP:0003736	Autophagic vacuoles
OMIM:608423	TNPO3	23534	HP:0000006	Autosomal dominant inheritance
OMIM:608423	TNPO3	23534	HP:0003560	Muscular dystrophy
OMIM:608423	TNPO3	23534	HP:0003581	Adult onset
OMIM:608423	TNPO3	23534	HP:0003749	Pelvic girdle muscle weakness
OMIM:608423	TNPO3	23534	HP:0003458	EMG: myopathic abnormalities
OMIM:608423	TNPO3	23534	HP:0003805	Rimmed vacuoles
OMIM:608423	TNPO3	23534	HP:0003306	Spinal rigidity
OMIM:609820	EPAS1	2034	HP:0000006	Autosomal dominant inheritance
OMIM:609820	EGLN1	54583	HP:0000006	Autosomal dominant inheritance
OMIM:614431	CITED2	10370	HP:0000006	Autosomal dominant inheritance
OMIM:614431	CITED2	10370	HP:0011682	Perimembranous ventricular septal defect
OMIM:308350	KCNB1	3745	HP:0100543	Cognitive impairment
OMIM:308350	KCNB1	3745	HP:0002015	Dysphagia
OMIM:308350	KCNB1	3745	HP:0001250	Seizures
OMIM:308350	KCNB1	3745	HP:0001257	Spasticity
OMIM:308350	KCNB1	3745	HP:0001347	Hyperreflexia
OMIM:308350	KCNB1	3745	HP:0002094	Dyspnea
OMIM:308350	KCNB1	3745	HP:0001266	Choreoathetosis
OMIM:308350	KCNB1	3745	HP:0001249	Intellectual disability
OMIM:308350	KCNB1	3745	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	KCNB1	3745	HP:0001419	X-linked recessive inheritance
OMIM:308350	KCNB1	3745	HP:0001276	Hypertonia
OMIM:308350	KCNB1	3745	HP:0002119	Ventriculomegaly
OMIM:308350	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:308350	KCNB1	3745	HP:0002123	Generalized myoclonic seizures
OMIM:308350	KCNB1	3745	HP:0002521	Hypsarrhythmia
OMIM:308350	KCNB1	3745	HP:0000252	Microcephaly
OMIM:308350	KCNB1	3745	HP:0001332	Dystonia
OMIM:308350	KCNB1	3745	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	PIGQ	9091	HP:0100543	Cognitive impairment
OMIM:308350	PIGQ	9091	HP:0002015	Dysphagia
OMIM:308350	PIGQ	9091	HP:0001250	Seizures
OMIM:308350	PIGQ	9091	HP:0001257	Spasticity
OMIM:308350	PIGQ	9091	HP:0001347	Hyperreflexia
OMIM:308350	PIGQ	9091	HP:0002094	Dyspnea
OMIM:308350	PIGQ	9091	HP:0001266	Choreoathetosis
OMIM:308350	PIGQ	9091	HP:0001249	Intellectual disability
OMIM:308350	PIGQ	9091	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	PIGQ	9091	HP:0001419	X-linked recessive inheritance
OMIM:308350	PIGQ	9091	HP:0001276	Hypertonia
OMIM:308350	PIGQ	9091	HP:0002119	Ventriculomegaly
OMIM:308350	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:308350	PIGQ	9091	HP:0002123	Generalized myoclonic seizures
OMIM:308350	PIGQ	9091	HP:0002521	Hypsarrhythmia
OMIM:308350	PIGQ	9091	HP:0000252	Microcephaly
OMIM:308350	PIGQ	9091	HP:0001332	Dystonia
OMIM:308350	PIGQ	9091	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	PLCB1	23236	HP:0100543	Cognitive impairment
OMIM:308350	PLCB1	23236	HP:0002015	Dysphagia
OMIM:308350	PLCB1	23236	HP:0001250	Seizures
OMIM:308350	PLCB1	23236	HP:0001257	Spasticity
OMIM:308350	PLCB1	23236	HP:0001347	Hyperreflexia
OMIM:308350	PLCB1	23236	HP:0002094	Dyspnea
OMIM:308350	PLCB1	23236	HP:0001266	Choreoathetosis
OMIM:308350	PLCB1	23236	HP:0001249	Intellectual disability
OMIM:308350	PLCB1	23236	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	PLCB1	23236	HP:0001419	X-linked recessive inheritance
OMIM:308350	PLCB1	23236	HP:0001276	Hypertonia
OMIM:308350	PLCB1	23236	HP:0002119	Ventriculomegaly
OMIM:308350	PLCB1	23236	HP:0200134	Epileptic encephalopathy
OMIM:308350	PLCB1	23236	HP:0002123	Generalized myoclonic seizures
OMIM:308350	PLCB1	23236	HP:0002521	Hypsarrhythmia
OMIM:308350	PLCB1	23236	HP:0000252	Microcephaly
OMIM:308350	PLCB1	23236	HP:0001332	Dystonia
OMIM:308350	PLCB1	23236	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	SLC25A22	79751	HP:0100543	Cognitive impairment
OMIM:308350	SLC25A22	79751	HP:0002015	Dysphagia
OMIM:308350	SLC25A22	79751	HP:0001250	Seizures
OMIM:308350	SLC25A22	79751	HP:0001257	Spasticity
OMIM:308350	SLC25A22	79751	HP:0001347	Hyperreflexia
OMIM:308350	SLC25A22	79751	HP:0002094	Dyspnea
OMIM:308350	SLC25A22	79751	HP:0001266	Choreoathetosis
OMIM:308350	SLC25A22	79751	HP:0001249	Intellectual disability
OMIM:308350	SLC25A22	79751	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	SLC25A22	79751	HP:0001419	X-linked recessive inheritance
OMIM:308350	SLC25A22	79751	HP:0001276	Hypertonia
OMIM:308350	SLC25A22	79751	HP:0002119	Ventriculomegaly
OMIM:308350	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:308350	SLC25A22	79751	HP:0002123	Generalized myoclonic seizures
OMIM:308350	SLC25A22	79751	HP:0002521	Hypsarrhythmia
OMIM:308350	SLC25A22	79751	HP:0000252	Microcephaly
OMIM:308350	SLC25A22	79751	HP:0001332	Dystonia
OMIM:308350	SLC25A22	79751	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	CDKL5	6792	HP:0100543	Cognitive impairment
OMIM:308350	CDKL5	6792	HP:0002015	Dysphagia
OMIM:308350	CDKL5	6792	HP:0001250	Seizures
OMIM:308350	CDKL5	6792	HP:0001257	Spasticity
OMIM:308350	CDKL5	6792	HP:0001347	Hyperreflexia
OMIM:308350	CDKL5	6792	HP:0002094	Dyspnea
OMIM:308350	CDKL5	6792	HP:0001266	Choreoathetosis
OMIM:308350	CDKL5	6792	HP:0001249	Intellectual disability
OMIM:308350	CDKL5	6792	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	CDKL5	6792	HP:0001419	X-linked recessive inheritance
OMIM:308350	CDKL5	6792	HP:0001276	Hypertonia
OMIM:308350	CDKL5	6792	HP:0002119	Ventriculomegaly
OMIM:308350	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:308350	CDKL5	6792	HP:0002123	Generalized myoclonic seizures
OMIM:308350	CDKL5	6792	HP:0002521	Hypsarrhythmia
OMIM:308350	CDKL5	6792	HP:0000252	Microcephaly
OMIM:308350	CDKL5	6792	HP:0001332	Dystonia
OMIM:308350	CDKL5	6792	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	KCNQ2	3785	HP:0100543	Cognitive impairment
OMIM:308350	KCNQ2	3785	HP:0002015	Dysphagia
OMIM:308350	KCNQ2	3785	HP:0001250	Seizures
OMIM:308350	KCNQ2	3785	HP:0001257	Spasticity
OMIM:308350	KCNQ2	3785	HP:0001347	Hyperreflexia
OMIM:308350	KCNQ2	3785	HP:0002094	Dyspnea
OMIM:308350	KCNQ2	3785	HP:0001266	Choreoathetosis
OMIM:308350	KCNQ2	3785	HP:0001249	Intellectual disability
OMIM:308350	KCNQ2	3785	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	KCNQ2	3785	HP:0001419	X-linked recessive inheritance
OMIM:308350	KCNQ2	3785	HP:0001276	Hypertonia
OMIM:308350	KCNQ2	3785	HP:0002119	Ventriculomegaly
OMIM:308350	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:308350	KCNQ2	3785	HP:0002123	Generalized myoclonic seizures
OMIM:308350	KCNQ2	3785	HP:0002521	Hypsarrhythmia
OMIM:308350	KCNQ2	3785	HP:0000252	Microcephaly
OMIM:308350	KCNQ2	3785	HP:0001332	Dystonia
OMIM:308350	KCNQ2	3785	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	SLC13A5	284111	HP:0100543	Cognitive impairment
OMIM:308350	SLC13A5	284111	HP:0002015	Dysphagia
OMIM:308350	SLC13A5	284111	HP:0001250	Seizures
OMIM:308350	SLC13A5	284111	HP:0001257	Spasticity
OMIM:308350	SLC13A5	284111	HP:0001347	Hyperreflexia
OMIM:308350	SLC13A5	284111	HP:0002094	Dyspnea
OMIM:308350	SLC13A5	284111	HP:0001266	Choreoathetosis
OMIM:308350	SLC13A5	284111	HP:0001249	Intellectual disability
OMIM:308350	SLC13A5	284111	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	SLC13A5	284111	HP:0001419	X-linked recessive inheritance
OMIM:308350	SLC13A5	284111	HP:0001276	Hypertonia
OMIM:308350	SLC13A5	284111	HP:0002119	Ventriculomegaly
OMIM:308350	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:308350	SLC13A5	284111	HP:0002123	Generalized myoclonic seizures
OMIM:308350	SLC13A5	284111	HP:0002521	Hypsarrhythmia
OMIM:308350	SLC13A5	284111	HP:0000252	Microcephaly
OMIM:308350	SLC13A5	284111	HP:0001332	Dystonia
OMIM:308350	SLC13A5	284111	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	SIK1	150094	HP:0100543	Cognitive impairment
OMIM:308350	SIK1	150094	HP:0002015	Dysphagia
OMIM:308350	SIK1	150094	HP:0001250	Seizures
OMIM:308350	SIK1	150094	HP:0001257	Spasticity
OMIM:308350	SIK1	150094	HP:0001347	Hyperreflexia
OMIM:308350	SIK1	150094	HP:0002094	Dyspnea
OMIM:308350	SIK1	150094	HP:0001266	Choreoathetosis
OMIM:308350	SIK1	150094	HP:0001249	Intellectual disability
OMIM:308350	SIK1	150094	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	SIK1	150094	HP:0001419	X-linked recessive inheritance
OMIM:308350	SIK1	150094	HP:0001276	Hypertonia
OMIM:308350	SIK1	150094	HP:0002119	Ventriculomegaly
OMIM:308350	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:308350	SIK1	150094	HP:0002123	Generalized myoclonic seizures
OMIM:308350	SIK1	150094	HP:0002521	Hypsarrhythmia
OMIM:308350	SIK1	150094	HP:0000252	Microcephaly
OMIM:308350	SIK1	150094	HP:0001332	Dystonia
OMIM:308350	SIK1	150094	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	HCN1	348980	HP:0100543	Cognitive impairment
OMIM:308350	HCN1	348980	HP:0002015	Dysphagia
OMIM:308350	HCN1	348980	HP:0001250	Seizures
OMIM:308350	HCN1	348980	HP:0001257	Spasticity
OMIM:308350	HCN1	348980	HP:0001347	Hyperreflexia
OMIM:308350	HCN1	348980	HP:0002094	Dyspnea
OMIM:308350	HCN1	348980	HP:0001266	Choreoathetosis
OMIM:308350	HCN1	348980	HP:0001249	Intellectual disability
OMIM:308350	HCN1	348980	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	HCN1	348980	HP:0001419	X-linked recessive inheritance
OMIM:308350	HCN1	348980	HP:0001276	Hypertonia
OMIM:308350	HCN1	348980	HP:0002119	Ventriculomegaly
OMIM:308350	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:308350	HCN1	348980	HP:0002123	Generalized myoclonic seizures
OMIM:308350	HCN1	348980	HP:0002521	Hypsarrhythmia
OMIM:308350	HCN1	348980	HP:0000252	Microcephaly
OMIM:308350	HCN1	348980	HP:0001332	Dystonia
OMIM:308350	HCN1	348980	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	PNKP	11284	HP:0100543	Cognitive impairment
OMIM:308350	PNKP	11284	HP:0002015	Dysphagia
OMIM:308350	PNKP	11284	HP:0001250	Seizures
OMIM:308350	PNKP	11284	HP:0001257	Spasticity
OMIM:308350	PNKP	11284	HP:0001347	Hyperreflexia
OMIM:308350	PNKP	11284	HP:0002094	Dyspnea
OMIM:308350	PNKP	11284	HP:0001266	Choreoathetosis
OMIM:308350	PNKP	11284	HP:0001249	Intellectual disability
OMIM:308350	PNKP	11284	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	PNKP	11284	HP:0001419	X-linked recessive inheritance
OMIM:308350	PNKP	11284	HP:0001276	Hypertonia
OMIM:308350	PNKP	11284	HP:0002119	Ventriculomegaly
OMIM:308350	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:308350	PNKP	11284	HP:0002123	Generalized myoclonic seizures
OMIM:308350	PNKP	11284	HP:0002521	Hypsarrhythmia
OMIM:308350	PNKP	11284	HP:0000252	Microcephaly
OMIM:308350	PNKP	11284	HP:0001332	Dystonia
OMIM:308350	PNKP	11284	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	SPTAN1	6709	HP:0100543	Cognitive impairment
OMIM:308350	SPTAN1	6709	HP:0002015	Dysphagia
OMIM:308350	SPTAN1	6709	HP:0001250	Seizures
OMIM:308350	SPTAN1	6709	HP:0001257	Spasticity
OMIM:308350	SPTAN1	6709	HP:0001347	Hyperreflexia
OMIM:308350	SPTAN1	6709	HP:0002094	Dyspnea
OMIM:308350	SPTAN1	6709	HP:0001266	Choreoathetosis
OMIM:308350	SPTAN1	6709	HP:0001249	Intellectual disability
OMIM:308350	SPTAN1	6709	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	SPTAN1	6709	HP:0001419	X-linked recessive inheritance
OMIM:308350	SPTAN1	6709	HP:0001276	Hypertonia
OMIM:308350	SPTAN1	6709	HP:0002119	Ventriculomegaly
OMIM:308350	SPTAN1	6709	HP:0200134	Epileptic encephalopathy
OMIM:308350	SPTAN1	6709	HP:0002123	Generalized myoclonic seizures
OMIM:308350	SPTAN1	6709	HP:0002521	Hypsarrhythmia
OMIM:308350	SPTAN1	6709	HP:0000252	Microcephaly
OMIM:308350	SPTAN1	6709	HP:0001332	Dystonia
OMIM:308350	SPTAN1	6709	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	SCN2A	6326	HP:0100543	Cognitive impairment
OMIM:308350	SCN2A	6326	HP:0002015	Dysphagia
OMIM:308350	SCN2A	6326	HP:0001250	Seizures
OMIM:308350	SCN2A	6326	HP:0001257	Spasticity
OMIM:308350	SCN2A	6326	HP:0001347	Hyperreflexia
OMIM:308350	SCN2A	6326	HP:0002094	Dyspnea
OMIM:308350	SCN2A	6326	HP:0001266	Choreoathetosis
OMIM:308350	SCN2A	6326	HP:0001249	Intellectual disability
OMIM:308350	SCN2A	6326	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	SCN2A	6326	HP:0001419	X-linked recessive inheritance
OMIM:308350	SCN2A	6326	HP:0001276	Hypertonia
OMIM:308350	SCN2A	6326	HP:0002119	Ventriculomegaly
OMIM:308350	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:308350	SCN2A	6326	HP:0002123	Generalized myoclonic seizures
OMIM:308350	SCN2A	6326	HP:0002521	Hypsarrhythmia
OMIM:308350	SCN2A	6326	HP:0000252	Microcephaly
OMIM:308350	SCN2A	6326	HP:0001332	Dystonia
OMIM:308350	SCN2A	6326	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	GNAO1	2775	HP:0100543	Cognitive impairment
OMIM:308350	GNAO1	2775	HP:0002015	Dysphagia
OMIM:308350	GNAO1	2775	HP:0001250	Seizures
OMIM:308350	GNAO1	2775	HP:0001257	Spasticity
OMIM:308350	GNAO1	2775	HP:0001347	Hyperreflexia
OMIM:308350	GNAO1	2775	HP:0002094	Dyspnea
OMIM:308350	GNAO1	2775	HP:0001266	Choreoathetosis
OMIM:308350	GNAO1	2775	HP:0001249	Intellectual disability
OMIM:308350	GNAO1	2775	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	GNAO1	2775	HP:0001419	X-linked recessive inheritance
OMIM:308350	GNAO1	2775	HP:0001276	Hypertonia
OMIM:308350	GNAO1	2775	HP:0002119	Ventriculomegaly
OMIM:308350	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:308350	GNAO1	2775	HP:0002123	Generalized myoclonic seizures
OMIM:308350	GNAO1	2775	HP:0002521	Hypsarrhythmia
OMIM:308350	GNAO1	2775	HP:0000252	Microcephaly
OMIM:308350	GNAO1	2775	HP:0001332	Dystonia
OMIM:308350	GNAO1	2775	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	ST3GAL3	6487	HP:0100543	Cognitive impairment
OMIM:308350	ST3GAL3	6487	HP:0002015	Dysphagia
OMIM:308350	ST3GAL3	6487	HP:0001250	Seizures
OMIM:308350	ST3GAL3	6487	HP:0001257	Spasticity
OMIM:308350	ST3GAL3	6487	HP:0001347	Hyperreflexia
OMIM:308350	ST3GAL3	6487	HP:0002094	Dyspnea
OMIM:308350	ST3GAL3	6487	HP:0001266	Choreoathetosis
OMIM:308350	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:308350	ST3GAL3	6487	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	ST3GAL3	6487	HP:0001419	X-linked recessive inheritance
OMIM:308350	ST3GAL3	6487	HP:0001276	Hypertonia
OMIM:308350	ST3GAL3	6487	HP:0002119	Ventriculomegaly
OMIM:308350	ST3GAL3	6487	HP:0200134	Epileptic encephalopathy
OMIM:308350	ST3GAL3	6487	HP:0002123	Generalized myoclonic seizures
OMIM:308350	ST3GAL3	6487	HP:0002521	Hypsarrhythmia
OMIM:308350	ST3GAL3	6487	HP:0000252	Microcephaly
OMIM:308350	ST3GAL3	6487	HP:0001332	Dystonia
OMIM:308350	ST3GAL3	6487	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	GRIN2B	2904	HP:0100543	Cognitive impairment
OMIM:308350	GRIN2B	2904	HP:0002015	Dysphagia
OMIM:308350	GRIN2B	2904	HP:0001250	Seizures
OMIM:308350	GRIN2B	2904	HP:0001257	Spasticity
OMIM:308350	GRIN2B	2904	HP:0001347	Hyperreflexia
OMIM:308350	GRIN2B	2904	HP:0002094	Dyspnea
OMIM:308350	GRIN2B	2904	HP:0001266	Choreoathetosis
OMIM:308350	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:308350	GRIN2B	2904	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	GRIN2B	2904	HP:0001419	X-linked recessive inheritance
OMIM:308350	GRIN2B	2904	HP:0001276	Hypertonia
OMIM:308350	GRIN2B	2904	HP:0002119	Ventriculomegaly
OMIM:308350	GRIN2B	2904	HP:0200134	Epileptic encephalopathy
OMIM:308350	GRIN2B	2904	HP:0002123	Generalized myoclonic seizures
OMIM:308350	GRIN2B	2904	HP:0002521	Hypsarrhythmia
OMIM:308350	GRIN2B	2904	HP:0000252	Microcephaly
OMIM:308350	GRIN2B	2904	HP:0001332	Dystonia
OMIM:308350	GRIN2B	2904	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	NECAP1	25977	HP:0100543	Cognitive impairment
OMIM:308350	NECAP1	25977	HP:0002015	Dysphagia
OMIM:308350	NECAP1	25977	HP:0001250	Seizures
OMIM:308350	NECAP1	25977	HP:0001257	Spasticity
OMIM:308350	NECAP1	25977	HP:0001347	Hyperreflexia
OMIM:308350	NECAP1	25977	HP:0002094	Dyspnea
OMIM:308350	NECAP1	25977	HP:0001266	Choreoathetosis
OMIM:308350	NECAP1	25977	HP:0001249	Intellectual disability
OMIM:308350	NECAP1	25977	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	NECAP1	25977	HP:0001419	X-linked recessive inheritance
OMIM:308350	NECAP1	25977	HP:0001276	Hypertonia
OMIM:308350	NECAP1	25977	HP:0002119	Ventriculomegaly
OMIM:308350	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:308350	NECAP1	25977	HP:0002123	Generalized myoclonic seizures
OMIM:308350	NECAP1	25977	HP:0002521	Hypsarrhythmia
OMIM:308350	NECAP1	25977	HP:0000252	Microcephaly
OMIM:308350	NECAP1	25977	HP:0001332	Dystonia
OMIM:308350	NECAP1	25977	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	ARX	170302	HP:0100543	Cognitive impairment
OMIM:308350	ARX	170302	HP:0002015	Dysphagia
OMIM:308350	ARX	170302	HP:0001250	Seizures
OMIM:308350	ARX	170302	HP:0001257	Spasticity
OMIM:308350	ARX	170302	HP:0001347	Hyperreflexia
OMIM:308350	ARX	170302	HP:0002094	Dyspnea
OMIM:308350	ARX	170302	HP:0001266	Choreoathetosis
OMIM:308350	ARX	170302	HP:0001249	Intellectual disability
OMIM:308350	ARX	170302	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:308350	ARX	170302	HP:0001276	Hypertonia
OMIM:308350	ARX	170302	HP:0002119	Ventriculomegaly
OMIM:308350	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:308350	ARX	170302	HP:0002123	Generalized myoclonic seizures
OMIM:308350	ARX	170302	HP:0002521	Hypsarrhythmia
OMIM:308350	ARX	170302	HP:0000252	Microcephaly
OMIM:308350	ARX	170302	HP:0001332	Dystonia
OMIM:308350	ARX	170302	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	STXBP1	6812	HP:0100543	Cognitive impairment
OMIM:308350	STXBP1	6812	HP:0002015	Dysphagia
OMIM:308350	STXBP1	6812	HP:0001250	Seizures
OMIM:308350	STXBP1	6812	HP:0001257	Spasticity
OMIM:308350	STXBP1	6812	HP:0001347	Hyperreflexia
OMIM:308350	STXBP1	6812	HP:0002094	Dyspnea
OMIM:308350	STXBP1	6812	HP:0001266	Choreoathetosis
OMIM:308350	STXBP1	6812	HP:0001249	Intellectual disability
OMIM:308350	STXBP1	6812	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	STXBP1	6812	HP:0001419	X-linked recessive inheritance
OMIM:308350	STXBP1	6812	HP:0001276	Hypertonia
OMIM:308350	STXBP1	6812	HP:0002119	Ventriculomegaly
OMIM:308350	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:308350	STXBP1	6812	HP:0002123	Generalized myoclonic seizures
OMIM:308350	STXBP1	6812	HP:0002521	Hypsarrhythmia
OMIM:308350	STXBP1	6812	HP:0000252	Microcephaly
OMIM:308350	STXBP1	6812	HP:0001332	Dystonia
OMIM:308350	STXBP1	6812	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	WWOX	51741	HP:0100543	Cognitive impairment
OMIM:308350	WWOX	51741	HP:0002015	Dysphagia
OMIM:308350	WWOX	51741	HP:0001250	Seizures
OMIM:308350	WWOX	51741	HP:0001257	Spasticity
OMIM:308350	WWOX	51741	HP:0001347	Hyperreflexia
OMIM:308350	WWOX	51741	HP:0002094	Dyspnea
OMIM:308350	WWOX	51741	HP:0001266	Choreoathetosis
OMIM:308350	WWOX	51741	HP:0001249	Intellectual disability
OMIM:308350	WWOX	51741	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	WWOX	51741	HP:0001419	X-linked recessive inheritance
OMIM:308350	WWOX	51741	HP:0001276	Hypertonia
OMIM:308350	WWOX	51741	HP:0002119	Ventriculomegaly
OMIM:308350	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:308350	WWOX	51741	HP:0002123	Generalized myoclonic seizures
OMIM:308350	WWOX	51741	HP:0002521	Hypsarrhythmia
OMIM:308350	WWOX	51741	HP:0000252	Microcephaly
OMIM:308350	WWOX	51741	HP:0001332	Dystonia
OMIM:308350	WWOX	51741	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	CASK	8573	HP:0100543	Cognitive impairment
OMIM:308350	CASK	8573	HP:0002015	Dysphagia
OMIM:308350	CASK	8573	HP:0001250	Seizures
OMIM:308350	CASK	8573	HP:0001257	Spasticity
OMIM:308350	CASK	8573	HP:0001347	Hyperreflexia
OMIM:308350	CASK	8573	HP:0002094	Dyspnea
OMIM:308350	CASK	8573	HP:0001266	Choreoathetosis
OMIM:308350	CASK	8573	HP:0001249	Intellectual disability
OMIM:308350	CASK	8573	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	CASK	8573	HP:0001419	X-linked recessive inheritance
OMIM:308350	CASK	8573	HP:0001276	Hypertonia
OMIM:308350	CASK	8573	HP:0002119	Ventriculomegaly
OMIM:308350	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:308350	CASK	8573	HP:0002123	Generalized myoclonic seizures
OMIM:308350	CASK	8573	HP:0002521	Hypsarrhythmia
OMIM:308350	CASK	8573	HP:0000252	Microcephaly
OMIM:308350	CASK	8573	HP:0001332	Dystonia
OMIM:308350	CASK	8573	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	PIGA	5277	HP:0100543	Cognitive impairment
OMIM:308350	PIGA	5277	HP:0002015	Dysphagia
OMIM:308350	PIGA	5277	HP:0001250	Seizures
OMIM:308350	PIGA	5277	HP:0001257	Spasticity
OMIM:308350	PIGA	5277	HP:0001347	Hyperreflexia
OMIM:308350	PIGA	5277	HP:0002094	Dyspnea
OMIM:308350	PIGA	5277	HP:0001266	Choreoathetosis
OMIM:308350	PIGA	5277	HP:0001249	Intellectual disability
OMIM:308350	PIGA	5277	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	PIGA	5277	HP:0001419	X-linked recessive inheritance
OMIM:308350	PIGA	5277	HP:0001276	Hypertonia
OMIM:308350	PIGA	5277	HP:0002119	Ventriculomegaly
OMIM:308350	PIGA	5277	HP:0200134	Epileptic encephalopathy
OMIM:308350	PIGA	5277	HP:0002123	Generalized myoclonic seizures
OMIM:308350	PIGA	5277	HP:0002521	Hypsarrhythmia
OMIM:308350	PIGA	5277	HP:0000252	Microcephaly
OMIM:308350	PIGA	5277	HP:0001332	Dystonia
OMIM:308350	PIGA	5277	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	SCN8A	6334	HP:0100543	Cognitive impairment
OMIM:308350	SCN8A	6334	HP:0002015	Dysphagia
OMIM:308350	SCN8A	6334	HP:0001250	Seizures
OMIM:308350	SCN8A	6334	HP:0001257	Spasticity
OMIM:308350	SCN8A	6334	HP:0001347	Hyperreflexia
OMIM:308350	SCN8A	6334	HP:0002094	Dyspnea
OMIM:308350	SCN8A	6334	HP:0001266	Choreoathetosis
OMIM:308350	SCN8A	6334	HP:0001249	Intellectual disability
OMIM:308350	SCN8A	6334	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	SCN8A	6334	HP:0001419	X-linked recessive inheritance
OMIM:308350	SCN8A	6334	HP:0001276	Hypertonia
OMIM:308350	SCN8A	6334	HP:0002119	Ventriculomegaly
OMIM:308350	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:308350	SCN8A	6334	HP:0002123	Generalized myoclonic seizures
OMIM:308350	SCN8A	6334	HP:0002521	Hypsarrhythmia
OMIM:308350	SCN8A	6334	HP:0000252	Microcephaly
OMIM:308350	SCN8A	6334	HP:0001332	Dystonia
OMIM:308350	SCN8A	6334	HP:0008936	Muscular hypotonia of the trunk
OMIM:308350	DNM1	1759	HP:0100543	Cognitive impairment
OMIM:308350	DNM1	1759	HP:0002015	Dysphagia
OMIM:308350	DNM1	1759	HP:0001250	Seizures
OMIM:308350	DNM1	1759	HP:0001257	Spasticity
OMIM:308350	DNM1	1759	HP:0001347	Hyperreflexia
OMIM:308350	DNM1	1759	HP:0002094	Dyspnea
OMIM:308350	DNM1	1759	HP:0001266	Choreoathetosis
OMIM:308350	DNM1	1759	HP:0001249	Intellectual disability
OMIM:308350	DNM1	1759	HP:0004374	Hemiplegia/hemiparesis
OMIM:308350	DNM1	1759	HP:0001419	X-linked recessive inheritance
OMIM:308350	DNM1	1759	HP:0001276	Hypertonia
OMIM:308350	DNM1	1759	HP:0002119	Ventriculomegaly
OMIM:308350	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:308350	DNM1	1759	HP:0002123	Generalized myoclonic seizures
OMIM:308350	DNM1	1759	HP:0002521	Hypsarrhythmia
OMIM:308350	DNM1	1759	HP:0000252	Microcephaly
OMIM:308350	DNM1	1759	HP:0001332	Dystonia
OMIM:308350	DNM1	1759	HP:0008936	Muscular hypotonia of the trunk
OMIM:616511	CEL	1056	HP:0000819	Diabetes mellitus
OMIM:616511	BLK	640	HP:0000819	Diabetes mellitus
OMIM:616511	PDX1	3651	HP:0000819	Diabetes mellitus
OMIM:616511	HNF4A	3172	HP:0000819	Diabetes mellitus
OMIM:616511	APPL1	26060	HP:0000819	Diabetes mellitus
OMIM:616511	KLF11	8462	HP:0000819	Diabetes mellitus
OMIM:616511	INS	3630	HP:0000819	Diabetes mellitus
OMIM:616511	HNF1A	6927	HP:0000819	Diabetes mellitus
OMIM:616511	ABCC8	6833	HP:0000819	Diabetes mellitus
OMIM:616511	GCK	2645	HP:0000819	Diabetes mellitus
OMIM:616511	PAX4	5078	HP:0000819	Diabetes mellitus
OMIM:616511	KCNJ11	3767	HP:0000819	Diabetes mellitus
OMIM:616511	NEUROD1	4760	HP:0000819	Diabetes mellitus
OMIM:605361	PRKCG	5582	HP:0001310	Dysmetria
OMIM:605361	PRKCG	5582	HP:0000006	Autosomal dominant inheritance
OMIM:605361	PRKCG	5582	HP:0002354	Memory impairment
OMIM:605361	PRKCG	5582	HP:0000639	Nystagmus
OMIM:605361	PRKCG	5582	HP:0001347	Hyperreflexia
OMIM:605361	PRKCG	5582	HP:0003829	Incomplete penetrance
OMIM:605361	PRKCG	5582	HP:0001260	Dysarthria
OMIM:605361	PRKCG	5582	HP:0003677	Slow progression
OMIM:605361	PRKCG	5582	HP:0002066	Gait ataxia
OMIM:605361	PRKCG	5582	HP:0007018	Attention deficit hyperactivity disorder
OMIM:605361	PRKCG	5582	HP:0004373	Focal dystonia
OMIM:605361	PRKCG	5582	HP:0002015	Dysphagia
OMIM:605361	PRKCG	5582	HP:0001268	Mental deterioration
OMIM:605361	PRKCG	5582	HP:0001272	Cerebellar atrophy
OMIM:605361	PRKCG	5582	HP:0000716	Depression
OMIM:614249	METTL23	124512	HP:0001249	Intellectual disability
OMIM:614249	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:614249	CRADD	8738	HP:0001249	Intellectual disability
OMIM:614249	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:614249	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:614249	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:614249	FMN2	56776	HP:0001249	Intellectual disability
OMIM:614249	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:614249	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:614249	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:614249	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:614249	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:614249	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:614249	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:614249	LINS1	55180	HP:0001249	Intellectual disability
OMIM:614249	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614249	NDST1	3340	HP:0001249	Intellectual disability
OMIM:614249	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:614249	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:614249	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:614249	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:614249	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:614249	CRBN	51185	HP:0001249	Intellectual disability
OMIM:614249	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:614249	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:614249	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:614249	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:614249	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:614249	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:614249	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:614249	TECR	9524	HP:0001249	Intellectual disability
OMIM:614249	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:614249	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:614249	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:614249	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:614249	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:614249	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:614249	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:614249	EDC3	80153	HP:0001249	Intellectual disability
OMIM:614249	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:614249	MED13L	23389	HP:0001249	Intellectual disability
OMIM:614249	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:614249	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:614249	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:614249	MED23	9439	HP:0001249	Intellectual disability
OMIM:614249	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:614256	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:614256	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:614256	MBD5	55777	HP:0001249	Intellectual disability
OMIM:614256	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:614256	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:614256	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:614256	KIF1A	547	HP:0001249	Intellectual disability
OMIM:614256	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:614256	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:614256	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:614256	TCF4	6925	HP:0001249	Intellectual disability
OMIM:614256	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:614256	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:614256	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:614256	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:614256	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:614256	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:614256	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:614256	CDH15	1013	HP:0001249	Intellectual disability
OMIM:614256	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:614256	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:614256	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:614256	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:614256	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:614256	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:614256	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:614256	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:614256	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:604321	ASPM	259266	HP:0000007	Autosomal recessive inheritance
OMIM:604321	ASPM	259266	HP:0000252	Microcephaly
OMIM:604321	ASPM	259266	HP:0001249	Intellectual disability
OMIM:604321	ASPM	259266	HP:0000718	Aggressive behavior
OMIM:604321	MCPH1	79648	HP:0000007	Autosomal recessive inheritance
OMIM:604321	MCPH1	79648	HP:0000252	Microcephaly
OMIM:604321	MCPH1	79648	HP:0001249	Intellectual disability
OMIM:604321	MCPH1	79648	HP:0000718	Aggressive behavior
OMIM:604321	ANKLE2	23141	HP:0000007	Autosomal recessive inheritance
OMIM:604321	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:604321	ANKLE2	23141	HP:0001249	Intellectual disability
OMIM:604321	ANKLE2	23141	HP:0000718	Aggressive behavior
OMIM:604321	SASS6	163786	HP:0000007	Autosomal recessive inheritance
OMIM:604321	SASS6	163786	HP:0000252	Microcephaly
OMIM:604321	SASS6	163786	HP:0001249	Intellectual disability
OMIM:604321	SASS6	163786	HP:0000718	Aggressive behavior
OMIM:604321	CDK5RAP2	55755	HP:0000007	Autosomal recessive inheritance
OMIM:604321	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:604321	CDK5RAP2	55755	HP:0001249	Intellectual disability
OMIM:604321	CDK5RAP2	55755	HP:0000718	Aggressive behavior
OMIM:604321	MFSD2A	84879	HP:0000007	Autosomal recessive inheritance
OMIM:604321	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:604321	MFSD2A	84879	HP:0001249	Intellectual disability
OMIM:604321	MFSD2A	84879	HP:0000718	Aggressive behavior
OMIM:604321	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:604321	CEP152	22995	HP:0000252	Microcephaly
OMIM:604321	CEP152	22995	HP:0001249	Intellectual disability
OMIM:604321	CEP152	22995	HP:0000718	Aggressive behavior
OMIM:604321	WDR62	284403	HP:0000007	Autosomal recessive inheritance
OMIM:604321	WDR62	284403	HP:0000252	Microcephaly
OMIM:604321	WDR62	284403	HP:0001249	Intellectual disability
OMIM:604321	WDR62	284403	HP:0000718	Aggressive behavior
OMIM:604321	PHC1	1911	HP:0000007	Autosomal recessive inheritance
OMIM:604321	PHC1	1911	HP:0000252	Microcephaly
OMIM:604321	PHC1	1911	HP:0001249	Intellectual disability
OMIM:604321	PHC1	1911	HP:0000718	Aggressive behavior
OMIM:604321	CASC5	57082	HP:0000007	Autosomal recessive inheritance
OMIM:604321	CASC5	57082	HP:0000252	Microcephaly
OMIM:604321	CASC5	57082	HP:0001249	Intellectual disability
OMIM:604321	CASC5	57082	HP:0000718	Aggressive behavior
OMIM:604321	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:604321	CENPJ	55835	HP:0000252	Microcephaly
OMIM:604321	CENPJ	55835	HP:0001249	Intellectual disability
OMIM:604321	CENPJ	55835	HP:0000718	Aggressive behavior
OMIM:604321	STIL	6491	HP:0000007	Autosomal recessive inheritance
OMIM:604321	STIL	6491	HP:0000252	Microcephaly
OMIM:604321	STIL	6491	HP:0001249	Intellectual disability
OMIM:604321	STIL	6491	HP:0000718	Aggressive behavior
OMIM:604321	CDK6	1021	HP:0000007	Autosomal recessive inheritance
OMIM:604321	CDK6	1021	HP:0000252	Microcephaly
OMIM:604321	CDK6	1021	HP:0001249	Intellectual disability
OMIM:604321	CDK6	1021	HP:0000718	Aggressive behavior
OMIM:604321	CEP135	9662	HP:0000007	Autosomal recessive inheritance
OMIM:604321	CEP135	9662	HP:0000252	Microcephaly
OMIM:604321	CEP135	9662	HP:0001249	Intellectual disability
OMIM:604321	CEP135	9662	HP:0000718	Aggressive behavior
OMIM:604321	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:604321	CEP63	80254	HP:0000252	Microcephaly
OMIM:604321	CEP63	80254	HP:0001249	Intellectual disability
OMIM:604321	CEP63	80254	HP:0000718	Aggressive behavior
OMIM:601144	SCN10A	6336	HP:0001663	Ventricular fibrillation
OMIM:601144	SCN10A	6336	HP:0001695	Cardiac arrest
OMIM:601144	SCN10A	6336	HP:0000006	Autosomal dominant inheritance
OMIM:601144	SCN10A	6336	HP:0001699	Sudden death
OMIM:601144	GPD1L	23171	HP:0001663	Ventricular fibrillation
OMIM:601144	GPD1L	23171	HP:0001695	Cardiac arrest
OMIM:601144	GPD1L	23171	HP:0000006	Autosomal dominant inheritance
OMIM:601144	GPD1L	23171	HP:0001699	Sudden death
OMIM:601144	HCN4	10021	HP:0001663	Ventricular fibrillation
OMIM:601144	HCN4	10021	HP:0001695	Cardiac arrest
OMIM:601144	HCN4	10021	HP:0000006	Autosomal dominant inheritance
OMIM:601144	HCN4	10021	HP:0001699	Sudden death
OMIM:601144	CACNA1C	775	HP:0001663	Ventricular fibrillation
OMIM:601144	CACNA1C	775	HP:0001695	Cardiac arrest
OMIM:601144	CACNA1C	775	HP:0000006	Autosomal dominant inheritance
OMIM:601144	CACNA1C	775	HP:0001699	Sudden death
OMIM:601144	KCND3	3752	HP:0001663	Ventricular fibrillation
OMIM:601144	KCND3	3752	HP:0001695	Cardiac arrest
OMIM:601144	KCND3	3752	HP:0000006	Autosomal dominant inheritance
OMIM:601144	KCND3	3752	HP:0001699	Sudden death
OMIM:601144	TRPM4	54795	HP:0001663	Ventricular fibrillation
OMIM:601144	TRPM4	54795	HP:0001695	Cardiac arrest
OMIM:601144	TRPM4	54795	HP:0000006	Autosomal dominant inheritance
OMIM:601144	TRPM4	54795	HP:0001699	Sudden death
OMIM:601144	CACNA2D1	781	HP:0001663	Ventricular fibrillation
OMIM:601144	CACNA2D1	781	HP:0001695	Cardiac arrest
OMIM:601144	CACNA2D1	781	HP:0000006	Autosomal dominant inheritance
OMIM:601144	CACNA2D1	781	HP:0001699	Sudden death
OMIM:601144	CACNB2	783	HP:0001663	Ventricular fibrillation
OMIM:601144	CACNB2	783	HP:0001695	Cardiac arrest
OMIM:601144	CACNB2	783	HP:0000006	Autosomal dominant inheritance
OMIM:601144	CACNB2	783	HP:0001699	Sudden death
OMIM:601144	SCN1B	6324	HP:0001663	Ventricular fibrillation
OMIM:601144	SCN1B	6324	HP:0001695	Cardiac arrest
OMIM:601144	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:601144	SCN1B	6324	HP:0001699	Sudden death
OMIM:601144	KCNJ8	3764	HP:0001663	Ventricular fibrillation
OMIM:601144	KCNJ8	3764	HP:0001695	Cardiac arrest
OMIM:601144	KCNJ8	3764	HP:0000006	Autosomal dominant inheritance
OMIM:601144	KCNJ8	3764	HP:0001699	Sudden death
OMIM:601144	KCNE3	10008	HP:0001663	Ventricular fibrillation
OMIM:601144	KCNE3	10008	HP:0001695	Cardiac arrest
OMIM:601144	KCNE3	10008	HP:0000006	Autosomal dominant inheritance
OMIM:601144	KCNE3	10008	HP:0001699	Sudden death
OMIM:601144	SCN3B	55800	HP:0001663	Ventricular fibrillation
OMIM:601144	SCN3B	55800	HP:0001695	Cardiac arrest
OMIM:601144	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:601144	SCN3B	55800	HP:0001699	Sudden death
OMIM:601144	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:601144	SCN5A	6331	HP:0001695	Cardiac arrest
OMIM:601144	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:601144	SCN5A	6331	HP:0001699	Sudden death
OMIM:601144	SLMAP	7871	HP:0001663	Ventricular fibrillation
OMIM:601144	SLMAP	7871	HP:0001695	Cardiac arrest
OMIM:601144	SLMAP	7871	HP:0000006	Autosomal dominant inheritance
OMIM:601144	SLMAP	7871	HP:0001699	Sudden death
OMIM:228000	ASAH1	427	HP:0002093	Respiratory insufficiency
OMIM:228000	ASAH1	427	HP:0001376	Limitation of joint mobility
OMIM:228000	ASAH1	427	HP:0001744	Splenomegaly
OMIM:228000	ASAH1	427	HP:0001249	Intellectual disability
OMIM:228000	ASAH1	427	HP:0000737	Irritability
OMIM:228000	ASAH1	427	HP:0007759	Opacification of the corneal stroma
OMIM:228000	ASAH1	427	HP:0001369	Arthritis
OMIM:228000	ASAH1	427	HP:0002240	Hepatomegaly
OMIM:228000	ASAH1	427	HP:0003676	Progressive
OMIM:228000	ASAH1	427	HP:0000007	Autosomal recessive inheritance
OMIM:228000	ASAH1	427	HP:0100543	Cognitive impairment
OMIM:228000	ASAH1	427	HP:0001508	Failure to thrive
OMIM:228000	ASAH1	427	HP:0000639	Nystagmus
OMIM:228000	ASAH1	427	HP:0004322	Short stature
OMIM:228000	ASAH1	427	HP:0002829	Arthralgia
OMIM:228000	ASAH1	427	HP:0001601	Laryngomalacia
OMIM:228000	ASAH1	427	HP:0000951	Abnormality of the skin
OMIM:228000	ASAH1	427	HP:0001103	Abnormality of the macula
OMIM:228000	ASAH1	427	HP:0002206	Pulmonary fibrosis
OMIM:228000	ASAH1	427	HP:0003202	Skeletal muscle atrophy
OMIM:228000	ASAH1	427	HP:0003828	Variable expressivity
OMIM:228000	ASAH1	427	HP:0001270	Motor delay
OMIM:228000	ASAH1	427	HP:0001608	Abnormality of the voice
OMIM:228000	ASAH1	427	HP:0002205	Recurrent respiratory infections
OMIM:228000	ASAH1	427	HP:0002808	Kyphosis
OMIM:228000	ASAH1	427	HP:0004349	Reduced bone mineral density
OMIM:602541	CHKB	1120	HP:0003741	Congenital muscular dystrophy
OMIM:602541	CHKB	1120	HP:0000252	Microcephaly
OMIM:602541	CHKB	1120	HP:0003236	Elevated serum creatine phosphokinase
OMIM:602541	CHKB	1120	HP:0008064	Ichthyosis
OMIM:602541	CHKB	1120	HP:0003391	Gowers sign
OMIM:602541	CHKB	1120	HP:0001319	Neonatal hypotonia
OMIM:602541	CHKB	1120	HP:0003677	Slow progression
OMIM:602541	CHKB	1120	HP:0000007	Autosomal recessive inheritance
OMIM:602541	CHKB	1120	HP:0001270	Motor delay
OMIM:602541	CHKB	1120	HP:0001427	Mitochondrial inheritance
OMIM:602541	CHKB	1120	HP:0002515	Waddling gait
OMIM:602541	CHKB	1120	HP:0001250	Seizures
OMIM:602541	CHKB	1120	HP:0002465	Poor speech
OMIM:602541	CHKB	1120	HP:0010628	Facial palsy
OMIM:602541	CHKB	1120	HP:0003198	Myopathy
OMIM:602541	CHKB	1120	HP:0001644	Dilated cardiomyopathy
OMIM:602541	CHKB	1120	HP:0000750	Delayed speech and language development
OMIM:602541	CHKB	1120	HP:0001249	Intellectual disability
OMIM:602541	CHKB	1120	HP:0003577	Congenital onset
OMIM:614038	GATA2	2624	HP:0000286	Epicanthus
OMIM:614038	GATA2	2624	HP:0002321	Vertigo
OMIM:614038	GATA2	2624	HP:0002167	Neurological speech impairment
OMIM:614038	GATA2	2624	HP:0001876	Pancytopenia
OMIM:614038	GATA2	2624	HP:0001824	Weight loss
OMIM:614038	GATA2	2624	HP:0000601	Hypotelorism
OMIM:614038	GATA2	2624	HP:0000465	Webbed neck
OMIM:614038	GATA2	2624	HP:0002093	Respiratory insufficiency
OMIM:614038	GATA2	2624	HP:0002017	Nausea and vomiting
OMIM:614038	GATA2	2624	HP:0100658	Cellulitis
OMIM:614038	GATA2	2624	HP:0001182	Tapered finger
OMIM:614038	GATA2	2624	HP:0002076	Migraine
OMIM:614038	GATA2	2624	HP:0001874	Abnormality of neutrophils
OMIM:614038	GATA2	2624	HP:0001873	Thrombocytopenia
OMIM:614038	GATA2	2624	HP:0001744	Splenomegaly
OMIM:614038	GATA2	2624	HP:0001974	Leukocytosis
OMIM:614038	GATA2	2624	HP:0000980	Pallor
OMIM:614038	GATA2	2624	HP:0002205	Recurrent respiratory infections
OMIM:614038	GATA2	2624	HP:0000978	Bruising susceptibility
OMIM:614038	GATA2	2624	HP:0002170	Intracranial hemorrhage
OMIM:614038	GATA2	2624	HP:0002488	Acute leukemia
OMIM:614038	GATA2	2624	HP:0002863	Myelodysplasia
OMIM:614038	GATA2	2624	HP:0000388	Otitis media
OMIM:614038	GATA2	2624	HP:0001004	Lymphedema
OMIM:614038	GATA2	2624	HP:0000407	Sensorineural hearing impairment
OMIM:614038	GATA2	2624	HP:0000648	Optic atrophy
OMIM:614038	GATA2	2624	HP:0002716	Lymphadenopathy
OMIM:614038	GATA2	2624	HP:0000006	Autosomal dominant inheritance
OMIM:614038	GATA2	2624	HP:0005528	Bone marrow hypocellularity
OMIM:614038	GATA2	2624	HP:0000505	Visual impairment
OMIM:614038	GATA2	2624	HP:0002240	Hepatomegaly
OMIM:614038	GATA2	2624	HP:0004370	Abnormality of temperature regulation
OMIM:262700	LHX4	89884	HP:0000821	Hypothyroidism
OMIM:262700	LHX4	89884	HP:0000846	Adrenal insufficiency
OMIM:262700	LHX4	89884	HP:0001943	Hypoglycemia
OMIM:262700	LHX4	89884	HP:0000006	Autosomal dominant inheritance
OMIM:262700	LHX4	89884	HP:0000007	Autosomal recessive inheritance
OMIM:607855	LAMA2	3908	HP:0002536	Abnormal cortical gyration
OMIM:607855	LAMA2	3908	HP:0001284	Areflexia
OMIM:607855	LAMA2	3908	HP:0002751	Kyphoscoliosis
OMIM:607855	LAMA2	3908	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607855	LAMA2	3908	HP:0001252	Muscular hypotonia
OMIM:607855	LAMA2	3908	HP:0001249	Intellectual disability
OMIM:607855	LAMA2	3908	HP:0007103	Hypointensity of cerebral white matter on MRI
OMIM:607855	LAMA2	3908	HP:0003741	Congenital muscular dystrophy
OMIM:607855	LAMA2	3908	HP:0001270	Motor delay
OMIM:607855	LAMA2	3908	HP:0008872	Feeding difficulties in infancy
OMIM:607855	LAMA2	3908	HP:0000007	Autosomal recessive inheritance
OMIM:607855	LAMA2	3908	HP:0000602	Ophthalmoplegia
OMIM:607855	LAMA2	3908	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:607855	LAMA2	3908	HP:0001250	Seizures
OMIM:607855	LAMA2	3908	HP:0003560	Muscular dystrophy
OMIM:607855	LAMA2	3908	HP:0001371	Flexion contracture
OMIM:607855	LAMA2	3908	HP:0003577	Congenital onset
OMIM:212720	RAB3GAP1	22930	HP:0001831	Short toe
OMIM:212720	RAB3GAP1	22930	HP:0000028	Cryptorchidism
OMIM:212720	RAB3GAP1	22930	HP:0008388	Abnormality of the toenails
OMIM:212720	RAB3GAP1	22930	HP:0002938	Lumbar hyperlordosis
OMIM:212720	RAB3GAP1	22930	HP:0000232	Everted lower lip vermilion
OMIM:212720	RAB3GAP1	22930	HP:0000518	Cataract
OMIM:212720	RAB3GAP1	22930	HP:0000767	Pectus excavatum
OMIM:212720	RAB3GAP1	22930	HP:0001635	Congestive heart failure
OMIM:212720	RAB3GAP1	22930	HP:0010864	Intellectual disability, severe
OMIM:212720	RAB3GAP1	22930	HP:0001638	Cardiomyopathy
OMIM:212720	RAB3GAP1	22930	HP:0001762	Talipes equinovarus
OMIM:212720	RAB3GAP1	22930	HP:0009803	Short phalanx of finger
OMIM:212720	RAB3GAP1	22930	HP:0000368	Low-set, posteriorly rotated ears
OMIM:212720	RAB3GAP1	22930	HP:0009465	Ulnar deviation of finger
OMIM:212720	RAB3GAP1	22930	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:212720	RAB3GAP1	22930	HP:0002120	Cerebral cortical atrophy
OMIM:212720	RAB3GAP1	22930	HP:0100543	Cognitive impairment
OMIM:212720	RAB3GAP1	22930	HP:0000347	Micrognathia
OMIM:212720	RAB3GAP1	22930	HP:0000007	Autosomal recessive inheritance
OMIM:212720	RAB3GAP1	22930	HP:0000322	Short philtrum
OMIM:212720	RAB3GAP1	22930	HP:0004684	Talipes valgus
OMIM:212720	RAB3GAP1	22930	HP:0000286	Epicanthus
OMIM:212720	RAB3GAP1	22930	HP:0005280	Depressed nasal bridge
OMIM:212720	RAB3GAP1	22930	HP:0000248	Brachycephaly
OMIM:212720	RAB3GAP1	22930	HP:0000601	Hypotelorism
OMIM:212720	RAB3GAP1	22930	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:212720	RAB3GAP1	22930	HP:0000054	Micropenis
OMIM:212720	RAB3GAP1	22930	HP:0009738	Abnormality of the antihelix
OMIM:212720	RAB3GAP1	22930	HP:0002648	Abnormality of calvarial morphology
OMIM:212720	RAB3GAP1	22930	HP:0004322	Short stature
OMIM:212720	RAB3GAP1	22930	HP:0001840	Metatarsus adductus
OMIM:212720	RAB3GAP1	22930	HP:0002162	Low posterior hairline
OMIM:212720	RAB3GAP1	22930	HP:0007495	Prematurely aged appearance
OMIM:212720	RAB3GAP1	22930	HP:0002205	Recurrent respiratory infections
OMIM:212720	RAB3GAP1	22930	HP:0010049	Short metacarpal
OMIM:212720	RAB3GAP1	22930	HP:0000252	Microcephaly
OMIM:212720	RAB3GAP1	22930	HP:0000494	Downslanted palpebral fissures
OMIM:212720	RAB3GAP1	22930	HP:0000164	Abnormality of the teeth
OMIM:212720	RAB3GAP1	22930	HP:0007477	Abnormal dermatoglyphics
OMIM:212720	RAB3GAP1	22930	HP:0000455	Broad nasal tip
OMIM:212720	RAB3GAP1	22930	HP:0000692	Misalignment of teeth
OMIM:212720	RAB3GAP1	22930	HP:0006887	Intellectual disability, progressive
OMIM:212720	RAB3GAP1	22930	HP:0000358	Posteriorly rotated ears
OMIM:212720	RAB3GAP1	22930	HP:0000768	Pectus carinatum
OMIM:212720	RAB3GAP1	22930	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:212720	RAB3GAP1	22930	HP:0004279	Short palm
OMIM:212720	RAB3GAP1	22930	HP:0000272	Malar flattening
OMIM:212720	RAB3GAP1	22930	HP:0000174	Abnormality of the palate
OMIM:212720	RAB3GAP1	22930	HP:0000327	Hypoplasia of the maxilla
OMIM:212720	RAB3GAP1	22930	HP:0003307	Hyperlordosis
OMIM:212720	RAB3GAP1	22930	HP:0000218	High palate
OMIM:212720	RAB3GAP1	22930	HP:0002650	Scoliosis
OMIM:212720	RAB3GAP1	22930	HP:0008872	Feeding difficulties in infancy
OMIM:212720	RAB3GAP1	22930	HP:0002779	Tracheomalacia
OMIM:212720	RAB3GAP2	25782	HP:0001831	Short toe
OMIM:212720	RAB3GAP2	25782	HP:0000028	Cryptorchidism
OMIM:212720	RAB3GAP2	25782	HP:0008388	Abnormality of the toenails
OMIM:212720	RAB3GAP2	25782	HP:0002938	Lumbar hyperlordosis
OMIM:212720	RAB3GAP2	25782	HP:0000232	Everted lower lip vermilion
OMIM:212720	RAB3GAP2	25782	HP:0000518	Cataract
OMIM:212720	RAB3GAP2	25782	HP:0000767	Pectus excavatum
OMIM:212720	RAB3GAP2	25782	HP:0001635	Congestive heart failure
OMIM:212720	RAB3GAP2	25782	HP:0010864	Intellectual disability, severe
OMIM:212720	RAB3GAP2	25782	HP:0001638	Cardiomyopathy
OMIM:212720	RAB3GAP2	25782	HP:0001762	Talipes equinovarus
OMIM:212720	RAB3GAP2	25782	HP:0009803	Short phalanx of finger
OMIM:212720	RAB3GAP2	25782	HP:0000368	Low-set, posteriorly rotated ears
OMIM:212720	RAB3GAP2	25782	HP:0009465	Ulnar deviation of finger
OMIM:212720	RAB3GAP2	25782	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:212720	RAB3GAP2	25782	HP:0002120	Cerebral cortical atrophy
OMIM:212720	RAB3GAP2	25782	HP:0100543	Cognitive impairment
OMIM:212720	RAB3GAP2	25782	HP:0000347	Micrognathia
OMIM:212720	RAB3GAP2	25782	HP:0000007	Autosomal recessive inheritance
OMIM:212720	RAB3GAP2	25782	HP:0000322	Short philtrum
OMIM:212720	RAB3GAP2	25782	HP:0004684	Talipes valgus
OMIM:212720	RAB3GAP2	25782	HP:0000286	Epicanthus
OMIM:212720	RAB3GAP2	25782	HP:0005280	Depressed nasal bridge
OMIM:212720	RAB3GAP2	25782	HP:0000248	Brachycephaly
OMIM:212720	RAB3GAP2	25782	HP:0000601	Hypotelorism
OMIM:212720	RAB3GAP2	25782	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:212720	RAB3GAP2	25782	HP:0000054	Micropenis
OMIM:212720	RAB3GAP2	25782	HP:0009738	Abnormality of the antihelix
OMIM:212720	RAB3GAP2	25782	HP:0002648	Abnormality of calvarial morphology
OMIM:212720	RAB3GAP2	25782	HP:0004322	Short stature
OMIM:212720	RAB3GAP2	25782	HP:0001840	Metatarsus adductus
OMIM:212720	RAB3GAP2	25782	HP:0002162	Low posterior hairline
OMIM:212720	RAB3GAP2	25782	HP:0007495	Prematurely aged appearance
OMIM:212720	RAB3GAP2	25782	HP:0002205	Recurrent respiratory infections
OMIM:212720	RAB3GAP2	25782	HP:0010049	Short metacarpal
OMIM:212720	RAB3GAP2	25782	HP:0000252	Microcephaly
OMIM:212720	RAB3GAP2	25782	HP:0000494	Downslanted palpebral fissures
OMIM:212720	RAB3GAP2	25782	HP:0000164	Abnormality of the teeth
OMIM:212720	RAB3GAP2	25782	HP:0007477	Abnormal dermatoglyphics
OMIM:212720	RAB3GAP2	25782	HP:0000455	Broad nasal tip
OMIM:212720	RAB3GAP2	25782	HP:0000692	Misalignment of teeth
OMIM:212720	RAB3GAP2	25782	HP:0006887	Intellectual disability, progressive
OMIM:212720	RAB3GAP2	25782	HP:0000358	Posteriorly rotated ears
OMIM:212720	RAB3GAP2	25782	HP:0000768	Pectus carinatum
OMIM:212720	RAB3GAP2	25782	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:212720	RAB3GAP2	25782	HP:0004279	Short palm
OMIM:212720	RAB3GAP2	25782	HP:0000272	Malar flattening
OMIM:212720	RAB3GAP2	25782	HP:0000174	Abnormality of the palate
OMIM:212720	RAB3GAP2	25782	HP:0000327	Hypoplasia of the maxilla
OMIM:212720	RAB3GAP2	25782	HP:0003307	Hyperlordosis
OMIM:212720	RAB3GAP2	25782	HP:0000218	High palate
OMIM:212720	RAB3GAP2	25782	HP:0002650	Scoliosis
OMIM:212720	RAB3GAP2	25782	HP:0008872	Feeding difficulties in infancy
OMIM:212720	RAB3GAP2	25782	HP:0002779	Tracheomalacia
OMIM:193100	FGF23	8074	HP:0001637	Abnormality of the myocardium
OMIM:193100	FGF23	8074	HP:0002653	Bone pain
OMIM:193100	FGF23	8074	HP:0003416	Spinal canal stenosis
OMIM:193100	FGF23	8074	HP:0003829	Incomplete penetrance
OMIM:193100	FGF23	8074	HP:0003324	Generalized muscle weakness
OMIM:193100	FGF23	8074	HP:0002814	Abnormality of the lower limb
OMIM:193100	FGF23	8074	HP:0001324	Muscle weakness
OMIM:193100	FGF23	8074	HP:0002148	Hypophosphatemia
OMIM:193100	FGF23	8074	HP:0002086	Abnormality of the respiratory system
OMIM:193100	FGF23	8074	HP:0004322	Short stature
OMIM:193100	FGF23	8074	HP:0000164	Abnormality of the teeth
OMIM:193100	FGF23	8074	HP:0004372	Reduced consciousness/confusion
OMIM:193100	FGF23	8074	HP:0001635	Congestive heart failure
OMIM:193100	FGF23	8074	HP:0002757	Recurrent fractures
OMIM:193100	FGF23	8074	HP:0000934	Chondrocalcinosis
OMIM:193100	FGF23	8074	HP:0000006	Autosomal dominant inheritance
OMIM:193100	FGF23	8074	HP:0001250	Seizures
OMIM:193100	FGF23	8074	HP:0004349	Reduced bone mineral density
OMIM:300923	KIF4A	24137	HP:0001249	Intellectual disability
OMIM:300923	KIF4A	24137	HP:0002465	Poor speech
OMIM:300923	KIF4A	24137	HP:0001250	Seizures
OMIM:614817	FAN1	22909	HP:0003676	Progressive
OMIM:614817	FAN1	22909	HP:0002910	Elevated hepatic transaminases
OMIM:614817	FAN1	22909	HP:0003259	Elevated serum creatinine
OMIM:614817	FAN1	22909	HP:0000093	Proteinuria
OMIM:614817	FAN1	22909	HP:0000090	Nephronophthisis
OMIM:614817	FAN1	22909	HP:0001970	Tubulointerstitial nephritis
OMIM:614817	FAN1	22909	HP:0000007	Autosomal recessive inheritance
OMIM:614817	FAN1	22909	HP:0003774	Stage 5 chronic kidney disease
OMIM:614817	FAN1	22909	HP:0000790	Hematuria
OMIM:148350	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:148350	GJB2	2706	HP:0000365	Hearing impairment
OMIM:148350	GJB2	2706	HP:0000982	Palmoplantar keratoderma
OMIM:148350	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:148350	TRNS1	4574	HP:0000006	Autosomal dominant inheritance
OMIM:148350	TRNS1	4574	HP:0000365	Hearing impairment
OMIM:148350	TRNS1	4574	HP:0000982	Palmoplantar keratoderma
OMIM:148350	TRNS1	4574	HP:0000407	Sensorineural hearing impairment
OMIM:615109	PTEN	5728	HP:0100646	Thyroiditis
OMIM:615109	PTEN	5728	HP:0002858	Meningioma
OMIM:615109	PTEN	5728	HP:0000347	Micrognathia
OMIM:615109	PTEN	5728	HP:0000138	Ovarian cyst
OMIM:615109	PTEN	5728	HP:0000327	Hypoplasia of the maxilla
OMIM:615109	PTEN	5728	HP:0000821	Hypothyroidism
OMIM:615109	PTEN	5728	HP:0003002	Breast carcinoma
OMIM:615109	PTEN	5728	HP:0002650	Scoliosis
OMIM:615109	PTEN	5728	HP:0000545	Myopia
OMIM:615109	PTEN	5728	HP:0003581	Adult onset
OMIM:615109	PTEN	5728	HP:0000853	Goiter
OMIM:615109	PTEN	5728	HP:0000518	Cataract
OMIM:615109	PTEN	5728	HP:0000836	Hyperthyroidism
OMIM:615109	PTEN	5728	HP:0001256	Intellectual disability, mild
OMIM:615109	PTEN	5728	HP:0002808	Kyphosis
OMIM:615109	PTEN	5728	HP:0001250	Seizures
OMIM:615109	PTEN	5728	HP:0000365	Hearing impairment
OMIM:615109	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:615109	PTEN	5728	HP:0000218	High palate
OMIM:615109	PTEN	5728	HP:0010609	Skin tags
OMIM:615109	PTEN	5728	HP:0001102	Angioid streaks of the retina
OMIM:615109	PTEN	5728	HP:0004481	Progressive macrocephaly
OMIM:615109	PTEN	5728	HP:0000160	Narrow mouth
OMIM:615109	PTEN	5728	HP:0000767	Pectus excavatum
OMIM:615109	PTEN	5728	HP:0001626	Abnormality of the cardiovascular system
OMIM:615109	PTEN	5728	HP:0001249	Intellectual disability
OMIM:615109	PTEN	5728	HP:0002253	Colonic diverticula
OMIM:615109	KLLN	100144748	HP:0100646	Thyroiditis
OMIM:615109	KLLN	100144748	HP:0002858	Meningioma
OMIM:615109	KLLN	100144748	HP:0000347	Micrognathia
OMIM:615109	KLLN	100144748	HP:0000138	Ovarian cyst
OMIM:615109	KLLN	100144748	HP:0000327	Hypoplasia of the maxilla
OMIM:615109	KLLN	100144748	HP:0000821	Hypothyroidism
OMIM:615109	KLLN	100144748	HP:0003002	Breast carcinoma
OMIM:615109	KLLN	100144748	HP:0002650	Scoliosis
OMIM:615109	KLLN	100144748	HP:0000545	Myopia
OMIM:615109	KLLN	100144748	HP:0003581	Adult onset
OMIM:615109	KLLN	100144748	HP:0000853	Goiter
OMIM:615109	KLLN	100144748	HP:0000518	Cataract
OMIM:615109	KLLN	100144748	HP:0000836	Hyperthyroidism
OMIM:615109	KLLN	100144748	HP:0001256	Intellectual disability, mild
OMIM:615109	KLLN	100144748	HP:0002808	Kyphosis
OMIM:615109	KLLN	100144748	HP:0001250	Seizures
OMIM:615109	KLLN	100144748	HP:0000365	Hearing impairment
OMIM:615109	KLLN	100144748	HP:0000006	Autosomal dominant inheritance
OMIM:615109	KLLN	100144748	HP:0000218	High palate
OMIM:615109	KLLN	100144748	HP:0010609	Skin tags
OMIM:615109	KLLN	100144748	HP:0001102	Angioid streaks of the retina
OMIM:615109	KLLN	100144748	HP:0004481	Progressive macrocephaly
OMIM:615109	KLLN	100144748	HP:0000160	Narrow mouth
OMIM:615109	KLLN	100144748	HP:0000767	Pectus excavatum
OMIM:615109	KLLN	100144748	HP:0001626	Abnormality of the cardiovascular system
OMIM:615109	KLLN	100144748	HP:0001249	Intellectual disability
OMIM:615109	KLLN	100144748	HP:0002253	Colonic diverticula
OMIM:615109	SDHB	6390	HP:0100646	Thyroiditis
OMIM:615109	SDHB	6390	HP:0002858	Meningioma
OMIM:615109	SDHB	6390	HP:0000347	Micrognathia
OMIM:615109	SDHB	6390	HP:0000138	Ovarian cyst
OMIM:615109	SDHB	6390	HP:0000327	Hypoplasia of the maxilla
OMIM:615109	SDHB	6390	HP:0000821	Hypothyroidism
OMIM:615109	SDHB	6390	HP:0003002	Breast carcinoma
OMIM:615109	SDHB	6390	HP:0002650	Scoliosis
OMIM:615109	SDHB	6390	HP:0000545	Myopia
OMIM:615109	SDHB	6390	HP:0003581	Adult onset
OMIM:615109	SDHB	6390	HP:0000853	Goiter
OMIM:615109	SDHB	6390	HP:0000518	Cataract
OMIM:615109	SDHB	6390	HP:0000836	Hyperthyroidism
OMIM:615109	SDHB	6390	HP:0001256	Intellectual disability, mild
OMIM:615109	SDHB	6390	HP:0002808	Kyphosis
OMIM:615109	SDHB	6390	HP:0001250	Seizures
OMIM:615109	SDHB	6390	HP:0000365	Hearing impairment
OMIM:615109	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:615109	SDHB	6390	HP:0000218	High palate
OMIM:615109	SDHB	6390	HP:0010609	Skin tags
OMIM:615109	SDHB	6390	HP:0001102	Angioid streaks of the retina
OMIM:615109	SDHB	6390	HP:0004481	Progressive macrocephaly
OMIM:615109	SDHB	6390	HP:0000160	Narrow mouth
OMIM:615109	SDHB	6390	HP:0000767	Pectus excavatum
OMIM:615109	SDHB	6390	HP:0001626	Abnormality of the cardiovascular system
OMIM:615109	SDHB	6390	HP:0001249	Intellectual disability
OMIM:615109	SDHB	6390	HP:0002253	Colonic diverticula
OMIM:615109	SDHC	6391	HP:0100646	Thyroiditis
OMIM:615109	SDHC	6391	HP:0002858	Meningioma
OMIM:615109	SDHC	6391	HP:0000347	Micrognathia
OMIM:615109	SDHC	6391	HP:0000138	Ovarian cyst
OMIM:615109	SDHC	6391	HP:0000327	Hypoplasia of the maxilla
OMIM:615109	SDHC	6391	HP:0000821	Hypothyroidism
OMIM:615109	SDHC	6391	HP:0003002	Breast carcinoma
OMIM:615109	SDHC	6391	HP:0002650	Scoliosis
OMIM:615109	SDHC	6391	HP:0000545	Myopia
OMIM:615109	SDHC	6391	HP:0003581	Adult onset
OMIM:615109	SDHC	6391	HP:0000853	Goiter
OMIM:615109	SDHC	6391	HP:0000518	Cataract
OMIM:615109	SDHC	6391	HP:0000836	Hyperthyroidism
OMIM:615109	SDHC	6391	HP:0001256	Intellectual disability, mild
OMIM:615109	SDHC	6391	HP:0002808	Kyphosis
OMIM:615109	SDHC	6391	HP:0001250	Seizures
OMIM:615109	SDHC	6391	HP:0000365	Hearing impairment
OMIM:615109	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:615109	SDHC	6391	HP:0000218	High palate
OMIM:615109	SDHC	6391	HP:0010609	Skin tags
OMIM:615109	SDHC	6391	HP:0001102	Angioid streaks of the retina
OMIM:615109	SDHC	6391	HP:0004481	Progressive macrocephaly
OMIM:615109	SDHC	6391	HP:0000160	Narrow mouth
OMIM:615109	SDHC	6391	HP:0000767	Pectus excavatum
OMIM:615109	SDHC	6391	HP:0001626	Abnormality of the cardiovascular system
OMIM:615109	SDHC	6391	HP:0001249	Intellectual disability
OMIM:615109	SDHC	6391	HP:0002253	Colonic diverticula
OMIM:615109	SDHD	6392	HP:0100646	Thyroiditis
OMIM:615109	SDHD	6392	HP:0002858	Meningioma
OMIM:615109	SDHD	6392	HP:0000347	Micrognathia
OMIM:615109	SDHD	6392	HP:0000138	Ovarian cyst
OMIM:615109	SDHD	6392	HP:0000327	Hypoplasia of the maxilla
OMIM:615109	SDHD	6392	HP:0000821	Hypothyroidism
OMIM:615109	SDHD	6392	HP:0003002	Breast carcinoma
OMIM:615109	SDHD	6392	HP:0002650	Scoliosis
OMIM:615109	SDHD	6392	HP:0000545	Myopia
OMIM:615109	SDHD	6392	HP:0003581	Adult onset
OMIM:615109	SDHD	6392	HP:0000853	Goiter
OMIM:615109	SDHD	6392	HP:0000518	Cataract
OMIM:615109	SDHD	6392	HP:0000836	Hyperthyroidism
OMIM:615109	SDHD	6392	HP:0001256	Intellectual disability, mild
OMIM:615109	SDHD	6392	HP:0002808	Kyphosis
OMIM:615109	SDHD	6392	HP:0001250	Seizures
OMIM:615109	SDHD	6392	HP:0000365	Hearing impairment
OMIM:615109	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:615109	SDHD	6392	HP:0000218	High palate
OMIM:615109	SDHD	6392	HP:0010609	Skin tags
OMIM:615109	SDHD	6392	HP:0001102	Angioid streaks of the retina
OMIM:615109	SDHD	6392	HP:0004481	Progressive macrocephaly
OMIM:615109	SDHD	6392	HP:0000160	Narrow mouth
OMIM:615109	SDHD	6392	HP:0000767	Pectus excavatum
OMIM:615109	SDHD	6392	HP:0001626	Abnormality of the cardiovascular system
OMIM:615109	SDHD	6392	HP:0001249	Intellectual disability
OMIM:615109	SDHD	6392	HP:0002253	Colonic diverticula
OMIM:615109	PIK3CA	5290	HP:0100646	Thyroiditis
OMIM:615109	PIK3CA	5290	HP:0002858	Meningioma
OMIM:615109	PIK3CA	5290	HP:0000347	Micrognathia
OMIM:615109	PIK3CA	5290	HP:0000138	Ovarian cyst
OMIM:615109	PIK3CA	5290	HP:0000327	Hypoplasia of the maxilla
OMIM:615109	PIK3CA	5290	HP:0000821	Hypothyroidism
OMIM:615109	PIK3CA	5290	HP:0003002	Breast carcinoma
OMIM:615109	PIK3CA	5290	HP:0002650	Scoliosis
OMIM:615109	PIK3CA	5290	HP:0000545	Myopia
OMIM:615109	PIK3CA	5290	HP:0003581	Adult onset
OMIM:615109	PIK3CA	5290	HP:0000853	Goiter
OMIM:615109	PIK3CA	5290	HP:0000518	Cataract
OMIM:615109	PIK3CA	5290	HP:0000836	Hyperthyroidism
OMIM:615109	PIK3CA	5290	HP:0001256	Intellectual disability, mild
OMIM:615109	PIK3CA	5290	HP:0002808	Kyphosis
OMIM:615109	PIK3CA	5290	HP:0001250	Seizures
OMIM:615109	PIK3CA	5290	HP:0000365	Hearing impairment
OMIM:615109	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:615109	PIK3CA	5290	HP:0000218	High palate
OMIM:615109	PIK3CA	5290	HP:0010609	Skin tags
OMIM:615109	PIK3CA	5290	HP:0001102	Angioid streaks of the retina
OMIM:615109	PIK3CA	5290	HP:0004481	Progressive macrocephaly
OMIM:615109	PIK3CA	5290	HP:0000160	Narrow mouth
OMIM:615109	PIK3CA	5290	HP:0000767	Pectus excavatum
OMIM:615109	PIK3CA	5290	HP:0001626	Abnormality of the cardiovascular system
OMIM:615109	PIK3CA	5290	HP:0001249	Intellectual disability
OMIM:615109	PIK3CA	5290	HP:0002253	Colonic diverticula
OMIM:615109	AKT1	207	HP:0100646	Thyroiditis
OMIM:615109	AKT1	207	HP:0002858	Meningioma
OMIM:615109	AKT1	207	HP:0000347	Micrognathia
OMIM:615109	AKT1	207	HP:0000138	Ovarian cyst
OMIM:615109	AKT1	207	HP:0000327	Hypoplasia of the maxilla
OMIM:615109	AKT1	207	HP:0000821	Hypothyroidism
OMIM:615109	AKT1	207	HP:0003002	Breast carcinoma
OMIM:615109	AKT1	207	HP:0002650	Scoliosis
OMIM:615109	AKT1	207	HP:0000545	Myopia
OMIM:615109	AKT1	207	HP:0003581	Adult onset
OMIM:615109	AKT1	207	HP:0000853	Goiter
OMIM:615109	AKT1	207	HP:0000518	Cataract
OMIM:615109	AKT1	207	HP:0000836	Hyperthyroidism
OMIM:615109	AKT1	207	HP:0001256	Intellectual disability, mild
OMIM:615109	AKT1	207	HP:0002808	Kyphosis
OMIM:615109	AKT1	207	HP:0001250	Seizures
OMIM:615109	AKT1	207	HP:0000365	Hearing impairment
OMIM:615109	AKT1	207	HP:0000006	Autosomal dominant inheritance
OMIM:615109	AKT1	207	HP:0000218	High palate
OMIM:615109	AKT1	207	HP:0010609	Skin tags
OMIM:615109	AKT1	207	HP:0001102	Angioid streaks of the retina
OMIM:615109	AKT1	207	HP:0004481	Progressive macrocephaly
OMIM:615109	AKT1	207	HP:0000160	Narrow mouth
OMIM:615109	AKT1	207	HP:0000767	Pectus excavatum
OMIM:615109	AKT1	207	HP:0001626	Abnormality of the cardiovascular system
OMIM:615109	AKT1	207	HP:0001249	Intellectual disability
OMIM:615109	AKT1	207	HP:0002253	Colonic diverticula
OMIM:601705	FOXN1	8456	HP:0001596	Alopecia
OMIM:601705	FOXN1	8456	HP:0000007	Autosomal recessive inheritance
OMIM:615030	CYP2U1	113612	HP:0001258	Spastic paraplegia
OMIM:615030	CYP2U1	113612	HP:0100543	Cognitive impairment
OMIM:615030	CYP2U1	113612	HP:0003828	Variable expressivity
OMIM:615030	CYP2U1	113612	HP:0001270	Motor delay
OMIM:615030	CYP2U1	113612	HP:0002317	Unsteady gait
OMIM:615030	CYP2U1	113612	HP:0000007	Autosomal recessive inheritance
OMIM:615030	CYP2U1	113612	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615030	CYP2U1	113612	HP:0002135	Basal ganglia calcification
OMIM:615030	CYP2U1	113612	HP:0003487	Babinski sign
OMIM:616300	TTC21B	79809	HP:0000448	Prominent nose
OMIM:616300	TTC21B	79809	HP:0002089	Pulmonary hypoplasia
OMIM:616300	TTC21B	79809	HP:0000280	Coarse facial features
OMIM:616300	TTC21B	79809	HP:0001643	Patent ductus arteriosus
OMIM:616300	TTC21B	79809	HP:0000089	Renal hypoplasia
OMIM:616300	TTC21B	79809	HP:0000774	Narrow chest
OMIM:616300	TTC21B	79809	HP:0000028	Cryptorchidism
OMIM:616300	TTC21B	79809	HP:0002093	Respiratory insufficiency
OMIM:616300	TTC21B	79809	HP:0000773	Short ribs
OMIM:616300	TTC21B	79809	HP:0000062	Ambiguous genitalia
OMIM:616300	TTC21B	79809	HP:0000695	Natal tooth
OMIM:616300	TTC21B	79809	HP:0011800	Hypoplasia of midface
OMIM:616300	TTC21B	79809	HP:0100258	Preaxial polydactyly
OMIM:616300	TTC21B	79809	HP:0000316	Hypertelorism
OMIM:616300	TTC21B	79809	HP:0000400	Macrotia
OMIM:616300	TTC21B	79809	HP:0004482	Relative macrocephaly
OMIM:616300	TTC21B	79809	HP:0000308	Microretrognathia
OMIM:616300	TTC21B	79809	HP:0001591	Bell-shaped thorax
OMIM:616300	TTC21B	79809	HP:0001539	Omphalocele
OMIM:616300	WDR19	57728	HP:0000448	Prominent nose
OMIM:616300	WDR19	57728	HP:0002089	Pulmonary hypoplasia
OMIM:616300	WDR19	57728	HP:0000280	Coarse facial features
OMIM:616300	WDR19	57728	HP:0001643	Patent ductus arteriosus
OMIM:616300	WDR19	57728	HP:0000089	Renal hypoplasia
OMIM:616300	WDR19	57728	HP:0000774	Narrow chest
OMIM:616300	WDR19	57728	HP:0000028	Cryptorchidism
OMIM:616300	WDR19	57728	HP:0002093	Respiratory insufficiency
OMIM:616300	WDR19	57728	HP:0000773	Short ribs
OMIM:616300	WDR19	57728	HP:0000062	Ambiguous genitalia
OMIM:616300	WDR19	57728	HP:0000695	Natal tooth
OMIM:616300	WDR19	57728	HP:0011800	Hypoplasia of midface
OMIM:616300	WDR19	57728	HP:0100258	Preaxial polydactyly
OMIM:616300	WDR19	57728	HP:0000316	Hypertelorism
OMIM:616300	WDR19	57728	HP:0000400	Macrotia
OMIM:616300	WDR19	57728	HP:0004482	Relative macrocephaly
OMIM:616300	WDR19	57728	HP:0000308	Microretrognathia
OMIM:616300	WDR19	57728	HP:0001591	Bell-shaped thorax
OMIM:616300	WDR19	57728	HP:0001539	Omphalocele
OMIM:616300	IFT172	26160	HP:0000448	Prominent nose
OMIM:616300	IFT172	26160	HP:0002089	Pulmonary hypoplasia
OMIM:616300	IFT172	26160	HP:0000280	Coarse facial features
OMIM:616300	IFT172	26160	HP:0001643	Patent ductus arteriosus
OMIM:616300	IFT172	26160	HP:0000089	Renal hypoplasia
OMIM:616300	IFT172	26160	HP:0000774	Narrow chest
OMIM:616300	IFT172	26160	HP:0000028	Cryptorchidism
OMIM:616300	IFT172	26160	HP:0002093	Respiratory insufficiency
OMIM:616300	IFT172	26160	HP:0000773	Short ribs
OMIM:616300	IFT172	26160	HP:0000062	Ambiguous genitalia
OMIM:616300	IFT172	26160	HP:0000695	Natal tooth
OMIM:616300	IFT172	26160	HP:0011800	Hypoplasia of midface
OMIM:616300	IFT172	26160	HP:0100258	Preaxial polydactyly
OMIM:616300	IFT172	26160	HP:0000316	Hypertelorism
OMIM:616300	IFT172	26160	HP:0000400	Macrotia
OMIM:616300	IFT172	26160	HP:0004482	Relative macrocephaly
OMIM:616300	IFT172	26160	HP:0000308	Microretrognathia
OMIM:616300	IFT172	26160	HP:0001591	Bell-shaped thorax
OMIM:616300	IFT172	26160	HP:0001539	Omphalocele
OMIM:616300	WDR34	89891	HP:0000448	Prominent nose
OMIM:616300	WDR34	89891	HP:0002089	Pulmonary hypoplasia
OMIM:616300	WDR34	89891	HP:0000280	Coarse facial features
OMIM:616300	WDR34	89891	HP:0001643	Patent ductus arteriosus
OMIM:616300	WDR34	89891	HP:0000089	Renal hypoplasia
OMIM:616300	WDR34	89891	HP:0000774	Narrow chest
OMIM:616300	WDR34	89891	HP:0000028	Cryptorchidism
OMIM:616300	WDR34	89891	HP:0002093	Respiratory insufficiency
OMIM:616300	WDR34	89891	HP:0000773	Short ribs
OMIM:616300	WDR34	89891	HP:0000062	Ambiguous genitalia
OMIM:616300	WDR34	89891	HP:0000695	Natal tooth
OMIM:616300	WDR34	89891	HP:0011800	Hypoplasia of midface
OMIM:616300	WDR34	89891	HP:0100258	Preaxial polydactyly
OMIM:616300	WDR34	89891	HP:0000316	Hypertelorism
OMIM:616300	WDR34	89891	HP:0000400	Macrotia
OMIM:616300	WDR34	89891	HP:0004482	Relative macrocephaly
OMIM:616300	WDR34	89891	HP:0000308	Microretrognathia
OMIM:616300	WDR34	89891	HP:0001591	Bell-shaped thorax
OMIM:616300	WDR34	89891	HP:0001539	Omphalocele
OMIM:616300	IFT80	57560	HP:0000448	Prominent nose
OMIM:616300	IFT80	57560	HP:0002089	Pulmonary hypoplasia
OMIM:616300	IFT80	57560	HP:0000280	Coarse facial features
OMIM:616300	IFT80	57560	HP:0001643	Patent ductus arteriosus
OMIM:616300	IFT80	57560	HP:0000089	Renal hypoplasia
OMIM:616300	IFT80	57560	HP:0000774	Narrow chest
OMIM:616300	IFT80	57560	HP:0000028	Cryptorchidism
OMIM:616300	IFT80	57560	HP:0002093	Respiratory insufficiency
OMIM:616300	IFT80	57560	HP:0000773	Short ribs
OMIM:616300	IFT80	57560	HP:0000062	Ambiguous genitalia
OMIM:616300	IFT80	57560	HP:0000695	Natal tooth
OMIM:616300	IFT80	57560	HP:0011800	Hypoplasia of midface
OMIM:616300	IFT80	57560	HP:0100258	Preaxial polydactyly
OMIM:616300	IFT80	57560	HP:0000316	Hypertelorism
OMIM:616300	IFT80	57560	HP:0000400	Macrotia
OMIM:616300	IFT80	57560	HP:0004482	Relative macrocephaly
OMIM:616300	IFT80	57560	HP:0000308	Microretrognathia
OMIM:616300	IFT80	57560	HP:0001591	Bell-shaped thorax
OMIM:616300	IFT80	57560	HP:0001539	Omphalocele
OMIM:616300	WDR60	55112	HP:0000448	Prominent nose
OMIM:616300	WDR60	55112	HP:0002089	Pulmonary hypoplasia
OMIM:616300	WDR60	55112	HP:0000280	Coarse facial features
OMIM:616300	WDR60	55112	HP:0001643	Patent ductus arteriosus
OMIM:616300	WDR60	55112	HP:0000089	Renal hypoplasia
OMIM:616300	WDR60	55112	HP:0000774	Narrow chest
OMIM:616300	WDR60	55112	HP:0000028	Cryptorchidism
OMIM:616300	WDR60	55112	HP:0002093	Respiratory insufficiency
OMIM:616300	WDR60	55112	HP:0000773	Short ribs
OMIM:616300	WDR60	55112	HP:0000062	Ambiguous genitalia
OMIM:616300	WDR60	55112	HP:0000695	Natal tooth
OMIM:616300	WDR60	55112	HP:0011800	Hypoplasia of midface
OMIM:616300	WDR60	55112	HP:0100258	Preaxial polydactyly
OMIM:616300	WDR60	55112	HP:0000316	Hypertelorism
OMIM:616300	WDR60	55112	HP:0000400	Macrotia
OMIM:616300	WDR60	55112	HP:0004482	Relative macrocephaly
OMIM:616300	WDR60	55112	HP:0000308	Microretrognathia
OMIM:616300	WDR60	55112	HP:0001591	Bell-shaped thorax
OMIM:616300	WDR60	55112	HP:0001539	Omphalocele
OMIM:616300	DYNC2H1	79659	HP:0000448	Prominent nose
OMIM:616300	DYNC2H1	79659	HP:0002089	Pulmonary hypoplasia
OMIM:616300	DYNC2H1	79659	HP:0000280	Coarse facial features
OMIM:616300	DYNC2H1	79659	HP:0001643	Patent ductus arteriosus
OMIM:616300	DYNC2H1	79659	HP:0000089	Renal hypoplasia
OMIM:616300	DYNC2H1	79659	HP:0000774	Narrow chest
OMIM:616300	DYNC2H1	79659	HP:0000028	Cryptorchidism
OMIM:616300	DYNC2H1	79659	HP:0002093	Respiratory insufficiency
OMIM:616300	DYNC2H1	79659	HP:0000773	Short ribs
OMIM:616300	DYNC2H1	79659	HP:0000062	Ambiguous genitalia
OMIM:616300	DYNC2H1	79659	HP:0000695	Natal tooth
OMIM:616300	DYNC2H1	79659	HP:0011800	Hypoplasia of midface
OMIM:616300	DYNC2H1	79659	HP:0100258	Preaxial polydactyly
OMIM:616300	DYNC2H1	79659	HP:0000316	Hypertelorism
OMIM:616300	DYNC2H1	79659	HP:0000400	Macrotia
OMIM:616300	DYNC2H1	79659	HP:0004482	Relative macrocephaly
OMIM:616300	DYNC2H1	79659	HP:0000308	Microretrognathia
OMIM:616300	DYNC2H1	79659	HP:0001591	Bell-shaped thorax
OMIM:616300	DYNC2H1	79659	HP:0001539	Omphalocele
OMIM:616300	CEP120	153241	HP:0000448	Prominent nose
OMIM:616300	CEP120	153241	HP:0002089	Pulmonary hypoplasia
OMIM:616300	CEP120	153241	HP:0000280	Coarse facial features
OMIM:616300	CEP120	153241	HP:0001643	Patent ductus arteriosus
OMIM:616300	CEP120	153241	HP:0000089	Renal hypoplasia
OMIM:616300	CEP120	153241	HP:0000774	Narrow chest
OMIM:616300	CEP120	153241	HP:0000028	Cryptorchidism
OMIM:616300	CEP120	153241	HP:0002093	Respiratory insufficiency
OMIM:616300	CEP120	153241	HP:0000773	Short ribs
OMIM:616300	CEP120	153241	HP:0000062	Ambiguous genitalia
OMIM:616300	CEP120	153241	HP:0000695	Natal tooth
OMIM:616300	CEP120	153241	HP:0011800	Hypoplasia of midface
OMIM:616300	CEP120	153241	HP:0100258	Preaxial polydactyly
OMIM:616300	CEP120	153241	HP:0000316	Hypertelorism
OMIM:616300	CEP120	153241	HP:0000400	Macrotia
OMIM:616300	CEP120	153241	HP:0004482	Relative macrocephaly
OMIM:616300	CEP120	153241	HP:0000308	Microretrognathia
OMIM:616300	CEP120	153241	HP:0001591	Bell-shaped thorax
OMIM:616300	CEP120	153241	HP:0001539	Omphalocele
OMIM:616300	IFT140	9742	HP:0000448	Prominent nose
OMIM:616300	IFT140	9742	HP:0002089	Pulmonary hypoplasia
OMIM:616300	IFT140	9742	HP:0000280	Coarse facial features
OMIM:616300	IFT140	9742	HP:0001643	Patent ductus arteriosus
OMIM:616300	IFT140	9742	HP:0000089	Renal hypoplasia
OMIM:616300	IFT140	9742	HP:0000774	Narrow chest
OMIM:616300	IFT140	9742	HP:0000028	Cryptorchidism
OMIM:616300	IFT140	9742	HP:0002093	Respiratory insufficiency
OMIM:616300	IFT140	9742	HP:0000773	Short ribs
OMIM:616300	IFT140	9742	HP:0000062	Ambiguous genitalia
OMIM:616300	IFT140	9742	HP:0000695	Natal tooth
OMIM:616300	IFT140	9742	HP:0011800	Hypoplasia of midface
OMIM:616300	IFT140	9742	HP:0100258	Preaxial polydactyly
OMIM:616300	IFT140	9742	HP:0000316	Hypertelorism
OMIM:616300	IFT140	9742	HP:0000400	Macrotia
OMIM:616300	IFT140	9742	HP:0004482	Relative macrocephaly
OMIM:616300	IFT140	9742	HP:0000308	Microretrognathia
OMIM:616300	IFT140	9742	HP:0001591	Bell-shaped thorax
OMIM:616300	IFT140	9742	HP:0001539	Omphalocele
OMIM:105150	CST3	1471	HP:0002637	Cerebral ischemia
OMIM:105150	CST3	1471	HP:0001297	Stroke
OMIM:105150	CST3	1471	HP:0000726	Dementia
OMIM:105150	CST3	1471	HP:0002170	Intracranial hemorrhage
OMIM:105150	CST3	1471	HP:0003216	Generalized amyloid deposition
OMIM:105150	CST3	1471	HP:0000006	Autosomal dominant inheritance
OMIM:300029	RLBP1	6017	HP:0001417	X-linked inheritance
OMIM:300029	RLBP1	6017	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:300029	SPATA7	55812	HP:0001417	X-linked inheritance
OMIM:300029	SPATA7	55812	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:300029	ARL6	84100	HP:0001417	X-linked inheritance
OMIM:300029	ARL6	84100	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:300029	CERKL	375298	HP:0001417	X-linked inheritance
OMIM:300029	CERKL	375298	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:300029	PRPF31	26121	HP:0001417	X-linked inheritance
OMIM:300029	PRPF31	26121	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:300029	TTC8	123016	HP:0001417	X-linked inheritance
OMIM:300029	TTC8	123016	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:300029	PROM1	8842	HP:0001417	X-linked inheritance
OMIM:300029	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:300029	LRAT	9227	HP:0001417	X-linked inheritance
OMIM:300029	LRAT	9227	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:300029	IFT140	9742	HP:0001417	X-linked inheritance
OMIM:300029	IFT140	9742	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:300029	BEST1	7439	HP:0001417	X-linked inheritance
OMIM:300029	BEST1	7439	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:300029	NEK2	4751	HP:0001417	X-linked inheritance
OMIM:300029	NEK2	4751	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:300029	ARL2BP	23568	HP:0001417	X-linked inheritance
OMIM:300029	ARL2BP	23568	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:300029	NR2E3	10002	HP:0001417	X-linked inheritance
OMIM:300029	NR2E3	10002	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:300029	EYS	346007	HP:0001417	X-linked inheritance
OMIM:300029	EYS	346007	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:300029	MAK	4117	HP:0001417	X-linked inheritance
OMIM:300029	MAK	4117	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:300029	SAG	6295	HP:0001417	X-linked inheritance
OMIM:300029	SAG	6295	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:300029	ABCA4	24	HP:0001417	X-linked inheritance
OMIM:300029	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:300029	PDE6A	5145	HP:0001417	X-linked inheritance
OMIM:300029	PDE6A	5145	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:300029	PDE6G	5148	HP:0001417	X-linked inheritance
OMIM:300029	PDE6G	5148	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:300029	IMPDH1	3614	HP:0001417	X-linked inheritance
OMIM:300029	IMPDH1	3614	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:300029	OFD1	8481	HP:0001417	X-linked inheritance
OMIM:300029	OFD1	8481	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:300029	GUCA1B	2979	HP:0001417	X-linked inheritance
OMIM:300029	GUCA1B	2979	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:300029	NRL	4901	HP:0001417	X-linked inheritance
OMIM:300029	NRL	4901	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:300029	PDE6B	5158	HP:0001417	X-linked inheritance
OMIM:300029	PDE6B	5158	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:300029	KLHL7	55975	HP:0001417	X-linked inheritance
OMIM:300029	KLHL7	55975	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:300029	PRPF4	9128	HP:0001417	X-linked inheritance
OMIM:300029	PRPF4	9128	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:300029	PRPF3	9129	HP:0001417	X-linked inheritance
OMIM:300029	PRPF3	9129	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:300029	FAM161A	84140	HP:0001417	X-linked inheritance
OMIM:300029	FAM161A	84140	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:300029	IFT172	26160	HP:0001417	X-linked inheritance
OMIM:300029	IFT172	26160	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:300029	KIZ	55857	HP:0001417	X-linked inheritance
OMIM:300029	KIZ	55857	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:300029	CDHR1	92211	HP:0001417	X-linked inheritance
OMIM:300029	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:300029	ZNF408	79797	HP:0001417	X-linked inheritance
OMIM:300029	ZNF408	79797	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:300029	RBP3	5949	HP:0001417	X-linked inheritance
OMIM:300029	RBP3	5949	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:300029	HGSNAT	138050	HP:0001417	X-linked inheritance
OMIM:300029	HGSNAT	138050	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:300029	FSCN2	25794	HP:0001417	X-linked inheritance
OMIM:300029	FSCN2	25794	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:300029	PRCD	768206	HP:0001417	X-linked inheritance
OMIM:300029	PRCD	768206	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:300029	BBS2	583	HP:0001417	X-linked inheritance
OMIM:300029	BBS2	583	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:300029	RDH12	145226	HP:0001417	X-linked inheritance
OMIM:300029	RDH12	145226	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:300029	PRPH2	5961	HP:0001417	X-linked inheritance
OMIM:300029	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:300029	DHDDS	79947	HP:0001417	X-linked inheritance
OMIM:300029	DHDDS	79947	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:300029	ROM1	6094	HP:0001417	X-linked inheritance
OMIM:300029	ROM1	6094	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:300029	C2ORF71	388939	HP:0001417	X-linked inheritance
OMIM:300029	C2ORF71	388939	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:300029	RP9	6100	HP:0001417	X-linked inheritance
OMIM:300029	RP9	6100	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:300029	PRPF6	24148	HP:0001417	X-linked inheritance
OMIM:300029	PRPF6	24148	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:300029	RP1	6101	HP:0001417	X-linked inheritance
OMIM:300029	RP1	6101	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:300029	RP2	6102	HP:0001417	X-linked inheritance
OMIM:300029	RP2	6102	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:300029	RPGR	6103	HP:0001417	X-linked inheritance
OMIM:300029	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:300029	SEMA4A	64218	HP:0001417	X-linked inheritance
OMIM:300029	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:300029	C8ORF37	157657	HP:0001417	X-linked inheritance
OMIM:300029	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:300029	IDH3B	3420	HP:0001417	X-linked inheritance
OMIM:300029	IDH3B	3420	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:300029	MERTK	10461	HP:0001417	X-linked inheritance
OMIM:300029	MERTK	10461	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:300029	PRPF8	10594	HP:0001417	X-linked inheritance
OMIM:300029	PRPF8	10594	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:300029	TOPORS	10210	HP:0001417	X-linked inheritance
OMIM:300029	TOPORS	10210	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:300029	USH2A	7399	HP:0001417	X-linked inheritance
OMIM:300029	USH2A	7399	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:300029	RPE65	6121	HP:0001417	X-linked inheritance
OMIM:300029	RPE65	6121	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:300029	CLRN1	7401	HP:0001417	X-linked inheritance
OMIM:300029	CLRN1	7401	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:300029	CNGB1	1258	HP:0001417	X-linked inheritance
OMIM:300029	CNGB1	1258	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:300029	RGR	5995	HP:0001417	X-linked inheritance
OMIM:300029	RGR	5995	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:300029	CNGA1	1259	HP:0001417	X-linked inheritance
OMIM:300029	CNGA1	1259	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:300029	TUB	7275	HP:0001417	X-linked inheritance
OMIM:300029	TUB	7275	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:300029	SNRNP200	23020	HP:0001417	X-linked inheritance
OMIM:300029	SNRNP200	23020	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:300029	SLC7A14	57709	HP:0001417	X-linked inheritance
OMIM:300029	SLC7A14	57709	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:300029	TULP1	7287	HP:0001417	X-linked inheritance
OMIM:300029	TULP1	7287	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:300029	RHO	6010	HP:0001417	X-linked inheritance
OMIM:300029	RHO	6010	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:300029	CA4	762	HP:0001417	X-linked inheritance
OMIM:300029	CA4	762	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:300029	CRB1	23418	HP:0001417	X-linked inheritance
OMIM:300029	CRB1	23418	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:300029	IMPG2	50939	HP:0001417	X-linked inheritance
OMIM:300029	IMPG2	50939	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:300029	ZNF513	130557	HP:0001417	X-linked inheritance
OMIM:300029	ZNF513	130557	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:300029	CRX	1406	HP:0001417	X-linked inheritance
OMIM:300029	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:300029	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:608895	FBLN5	10516	HP:0011506	Choroidal neovascularization of the macula
OMIM:608895	FBLN5	10516	HP:0011510	Drusen
OMIM:608895	FBLN5	10516	HP:0000608	Macular degeneration
OMIM:148500	RHBDF2	79651	HP:0045026	Abnormality of the mediastinum
OMIM:148500	RHBDF2	79651	HP:0002242	Abnormality of the intestine
OMIM:148500	RHBDF2	79651	HP:0001541	Ascites
OMIM:148500	RHBDF2	79651	HP:0002239	Gastrointestinal hemorrhage
OMIM:148500	RHBDF2	79651	HP:0002017	Nausea and vomiting
OMIM:148500	RHBDF2	79651	HP:0000982	Palmoplantar keratoderma
OMIM:148500	RHBDF2	79651	HP:0002240	Hepatomegaly
OMIM:148500	RHBDF2	79651	HP:0100751	Esophageal neoplasm
OMIM:148500	RHBDF2	79651	HP:0000153	Abnormality of the mouth
OMIM:148500	RHBDF2	79651	HP:0008872	Feeding difficulties in infancy
OMIM:148500	RHBDF2	79651	HP:0000006	Autosomal dominant inheritance
OMIM:148500	RHBDF2	79651	HP:0001824	Weight loss
OMIM:148500	RHBDF2	79651	HP:0001604	Vocal cord paresis
OMIM:148500	RHBDF2	79651	HP:0100760	Clubbing of toes
OMIM:300894	WDR45	11152	HP:0001250	Seizures
OMIM:300894	WDR45	11152	HP:0001300	Parkinsonism
OMIM:300894	WDR45	11152	HP:0000496	Abnormality of eye movement
OMIM:300894	WDR45	11152	HP:0000718	Aggressive behavior
OMIM:300894	WDR45	11152	HP:0002063	Rigidity
OMIM:300894	WDR45	11152	HP:0002180	Neurodegeneration
OMIM:300894	WDR45	11152	HP:0002465	Poor speech
OMIM:300894	WDR45	11152	HP:0001263	Global developmental delay
OMIM:300894	WDR45	11152	HP:0000726	Dementia
OMIM:300894	WDR45	11152	HP:0001249	Intellectual disability
OMIM:300894	WDR45	11152	HP:0001344	Absent speech
OMIM:300894	WDR45	11152	HP:0001337	Tremor
OMIM:300894	WDR45	11152	HP:0001332	Dystonia
OMIM:300894	WDR45	11152	HP:0001423	X-linked dominant inheritance
OMIM:300894	WDR45	11152	HP:0002059	Cerebral atrophy
OMIM:300894	WDR45	11152	HP:0002313	Spastic paraparesis
OMIM:300894	WDR45	11152	HP:0002067	Bradykinesia
OMIM:300894	WDR45	11152	HP:0001272	Cerebellar atrophy
OMIM:107741	APOE	348	HP:0003124	Hypercholesterolemia
OMIM:107741	APOE	348	HP:0002155	Hypertriglyceridemia
OMIM:107741	APOE	348	HP:0001952	Abnormal glucose tolerance
OMIM:107741	APOE	348	HP:0000991	Xanthomatosis
OMIM:107741	APOE	348	HP:0004950	Peripheral arterial disease
OMIM:107741	APOE	348	HP:0001513	Obesity
OMIM:302200	CRYBA2	1412	HP:0001417	X-linked inheritance
OMIM:302200	CRYBA2	1412	HP:0010695	Sutural cataract
OMIM:302200	CRYBA2	1412	HP:0001141	Severe visual impairment
OMIM:302200	CRYBA2	1412	HP:0008024	Congenital nuclear cataract
OMIM:302200	AGK	55750	HP:0001417	X-linked inheritance
OMIM:302200	AGK	55750	HP:0010695	Sutural cataract
OMIM:302200	AGK	55750	HP:0001141	Severe visual impairment
OMIM:302200	AGK	55750	HP:0008024	Congenital nuclear cataract
OMIM:302200	NHS	4810	HP:0001417	X-linked inheritance
OMIM:302200	NHS	4810	HP:0010695	Sutural cataract
OMIM:302200	NHS	4810	HP:0001141	Severe visual impairment
OMIM:302200	NHS	4810	HP:0008024	Congenital nuclear cataract
OMIM:302200	GCNT2	2651	HP:0001417	X-linked inheritance
OMIM:302200	GCNT2	2651	HP:0010695	Sutural cataract
OMIM:302200	GCNT2	2651	HP:0001141	Severe visual impairment
OMIM:302200	GCNT2	2651	HP:0008024	Congenital nuclear cataract
OMIM:269921	GNE	10020	HP:0000369	Low-set ears
OMIM:269921	GNE	10020	HP:0001263	Global developmental delay
OMIM:269921	GNE	10020	HP:0002557	Hypoplastic nipples
OMIM:269921	GNE	10020	HP:0007018	Attention deficit hyperactivity disorder
OMIM:269921	GNE	10020	HP:0000286	Epicanthus
OMIM:269921	GNE	10020	HP:0000023	Inguinal hernia
OMIM:269921	GNE	10020	HP:0000280	Coarse facial features
OMIM:269921	GNE	10020	HP:0000431	Wide nasal bridge
OMIM:269921	GNE	10020	HP:0001250	Seizures
OMIM:269921	GNE	10020	HP:0000218	High palate
OMIM:269921	GNE	10020	HP:0011220	Prominent forehead
OMIM:269921	GNE	10020	HP:0001538	Protuberant abdomen
OMIM:269921	GNE	10020	HP:0005257	Thoracic hypoplasia
OMIM:269921	GNE	10020	HP:0001744	Splenomegaly
OMIM:269921	GNE	10020	HP:0002650	Scoliosis
OMIM:269921	GNE	10020	HP:0000219	Thin upper lip vermilion
OMIM:269921	GNE	10020	HP:0002162	Low posterior hairline
OMIM:269921	GNE	10020	HP:0002007	Frontal bossing
OMIM:269921	GNE	10020	HP:0004691	2-3 toe syndactyly
OMIM:269921	GNE	10020	HP:0002240	Hepatomegaly
OMIM:269921	GNE	10020	HP:0000664	Synophrys
OMIM:269921	GNE	10020	HP:0000006	Autosomal dominant inheritance
OMIM:269921	GNE	10020	HP:0000316	Hypertelorism
OMIM:269921	GNE	10020	HP:0000319	Smooth philtrum
OMIM:269921	GNE	10020	HP:0010535	Sleep apnea
OMIM:269921	GNE	10020	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:269921	GNE	10020	HP:0000343	Long philtrum
OMIM:269921	GNE	10020	HP:0000629	Periorbital fullness
OMIM:311900	RBM10	8241	HP:0001511	Intrauterine growth retardation
OMIM:311900	RBM10	8241	HP:0000028	Cryptorchidism
OMIM:311900	RBM10	8241	HP:0001762	Talipes equinovarus
OMIM:311900	RBM10	8241	HP:0001636	Tetralogy of Fallot
OMIM:311900	RBM10	8241	HP:0008551	Microtia
OMIM:311900	RBM10	8241	HP:0000358	Posteriorly rotated ears
OMIM:311900	RBM10	8241	HP:0000162	Glossoptosis
OMIM:311900	RBM10	8241	HP:0000463	Anteverted nares
OMIM:311900	RBM10	8241	HP:0001631	Atria septal defect
OMIM:311900	RBM10	8241	HP:0100026	Arteriovenous malformation
OMIM:311900	RBM10	8241	HP:0000347	Micrognathia
OMIM:311900	RBM10	8241	HP:0001273	Abnormality of the corpus callosum
OMIM:311900	RBM10	8241	HP:0000239	Large fontanelles
OMIM:311900	RBM10	8241	HP:0001321	Cerebellar hypoplasia
OMIM:311900	RBM10	8241	HP:0009891	Underdeveloped supraorbital ridges
OMIM:311900	RBM10	8241	HP:0001417	X-linked inheritance
OMIM:311900	RBM10	8241	HP:0000175	Cleft palate
OMIM:311900	RBM10	8241	HP:0000218	High palate
OMIM:311900	RBM10	8241	HP:0001320	Cerebellar vermis hypoplasia
OMIM:311900	RBM10	8241	HP:0002984	Hypoplasia of the radius
OMIM:311900	RBM10	8241	HP:0030084	Clinodactyly
OMIM:311900	RBM10	8241	HP:0100259	Postaxial polydactyly
OMIM:311900	RBM10	8241	HP:0000954	Single transverse palmar crease
OMIM:311900	RBM10	8241	HP:0000368	Low-set, posteriorly rotated ears
OMIM:311900	RBM10	8241	HP:0001252	Muscular hypotonia
OMIM:311900	RBM10	8241	HP:0000369	Low-set ears
OMIM:311900	RBM10	8241	HP:0000085	Horseshoe kidney
OMIM:311900	RBM10	8241	HP:0001508	Failure to thrive
OMIM:311900	RBM10	8241	HP:0000648	Optic atrophy
OMIM:311900	RBM10	8241	HP:0000431	Wide nasal bridge
OMIM:311900	RBM10	8241	HP:0012725	Cutaneous syndactyly
OMIM:311900	RBM10	8241	HP:0000879	Short sternum
OMIM:311900	RBM10	8241	HP:0001263	Global developmental delay
OMIM:311900	RBM10	8241	HP:0000126	Hydronephrosis
OMIM:311900	RBM10	8241	HP:0012745	Short palpebral fissure
OMIM:609306	EEF2	1938	HP:0002311	Incoordination
OMIM:609306	EEF2	1938	HP:0000639	Nystagmus
OMIM:609306	EEF2	1938	HP:0002070	Limb ataxia
OMIM:609306	EEF2	1938	HP:0001151	Impaired horizontal smooth pursuit
OMIM:609306	EEF2	1938	HP:0003581	Adult onset
OMIM:609306	EEF2	1938	HP:0003677	Slow progression
OMIM:609306	EEF2	1938	HP:0000006	Autosomal dominant inheritance
OMIM:609306	EEF2	1938	HP:0002066	Gait ataxia
OMIM:609306	EEF2	1938	HP:0001260	Dysarthria
OMIM:609306	EEF2	1938	HP:0001272	Cerebellar atrophy
OMIM:609306	EEF2	1938	HP:0002078	Truncal ataxia
ORPHANET:701	HR	55806	HP:0001596	Alopecia
ORPHANET:701	HR	55806	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:701	HR	55806	HP:0000499	Abnormality of the eyelashes
OMIM:235700	HK1	3098	HP:0001082	Cholecystitis
OMIM:235700	HK1	3098	HP:0001923	Reticulocytosis
OMIM:235700	HK1	3098	HP:0000007	Autosomal recessive inheritance
OMIM:235700	HK1	3098	HP:0001081	Cholelithiasis
OMIM:235700	HK1	3098	HP:0001744	Splenomegaly
OMIM:235700	HK1	3098	HP:0002904	Hyperbilirubinemia
OMIM:235700	HK1	3098	HP:0000952	Jaundice
OMIM:235700	HK1	3098	HP:0003577	Congenital onset
OMIM:601419	DES	1674	HP:0000467	Neck muscle weakness
OMIM:601419	DES	1674	HP:0001283	Bulbar palsy
OMIM:601419	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:601419	DES	1674	HP:0011663	Right ventricular cardiomyopathy
OMIM:601419	DES	1674	HP:0002460	Distal muscle weakness
OMIM:601419	DES	1674	HP:0003458	EMG: myopathic abnormalities
OMIM:601419	DES	1674	HP:0002019	Constipation
OMIM:601419	DES	1674	HP:0000007	Autosomal recessive inheritance
OMIM:601419	DES	1674	HP:0001639	Hypertrophic cardiomyopathy
OMIM:601419	DES	1674	HP:0002014	Diarrhea
OMIM:601419	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:601419	DES	1674	HP:0003812	Phenotypic variability
OMIM:601419	DES	1674	HP:0010628	Facial palsy
OMIM:601419	DES	1674	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:601419	DES	1674	HP:0011675	Arrhythmia
OMIM:610017	GDF5	8200	HP:0000445	Wide nose
OMIM:610017	GDF5	8200	HP:0002948	Vertebral fusion
OMIM:610017	GDF5	8200	HP:0003041	Humeroradial synostosis
OMIM:610017	GDF5	8200	HP:0008368	Tarsal synostosis
OMIM:610017	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:610017	GDF5	8200	HP:0009702	Carpal synostosis
OMIM:610017	GDF5	8200	HP:0009700	Synostosis involving bones of the fingers
OMIM:610017	NOG	9241	HP:0000445	Wide nose
OMIM:610017	NOG	9241	HP:0002948	Vertebral fusion
OMIM:610017	NOG	9241	HP:0003041	Humeroradial synostosis
OMIM:610017	NOG	9241	HP:0008368	Tarsal synostosis
OMIM:610017	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:610017	NOG	9241	HP:0009702	Carpal synostosis
OMIM:610017	NOG	9241	HP:0009700	Synostosis involving bones of the fingers
OMIM:610017	FGF9	2254	HP:0000445	Wide nose
OMIM:610017	FGF9	2254	HP:0002948	Vertebral fusion
OMIM:610017	FGF9	2254	HP:0003041	Humeroradial synostosis
OMIM:610017	FGF9	2254	HP:0008368	Tarsal synostosis
OMIM:610017	FGF9	2254	HP:0000006	Autosomal dominant inheritance
OMIM:610017	FGF9	2254	HP:0009702	Carpal synostosis
OMIM:610017	FGF9	2254	HP:0009700	Synostosis involving bones of the fingers
OMIM:615440	ELAC2	60528	HP:0001252	Muscular hypotonia
OMIM:615440	ELAC2	60528	HP:0000252	Microcephaly
OMIM:615440	ELAC2	60528	HP:0001510	Growth delay
OMIM:615440	ELAC2	60528	HP:0001263	Global developmental delay
OMIM:615440	ELAC2	60528	HP:0000365	Hearing impairment
OMIM:615440	ELAC2	60528	HP:0001635	Congestive heart failure
OMIM:615440	ELAC2	60528	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615440	ELAC2	60528	HP:0000007	Autosomal recessive inheritance
OMIM:615440	ELAC2	60528	HP:0001508	Failure to thrive
OMIM:615440	ELAC2	60528	HP:0003128	Lactic acidosis
OMIM:604290	CP	1356	HP:0000726	Dementia
OMIM:604290	CP	1356	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:604290	CP	1356	HP:0001337	Tremor
OMIM:604290	CP	1356	HP:0001903	Anemia
OMIM:604290	CP	1356	HP:0001251	Ataxia
OMIM:604290	CP	1356	HP:0000819	Diabetes mellitus
OMIM:604290	CP	1356	HP:0002311	Incoordination
OMIM:604290	CP	1356	HP:0002354	Memory impairment
OMIM:604290	CP	1356	HP:0002376	Developmental regression
OMIM:604290	CP	1356	HP:0012211	Abnormal renal physiology
OMIM:604290	CP	1356	HP:0000488	Retinopathy
OMIM:604290	CP	1356	HP:0001635	Congestive heart failure
OMIM:604290	CP	1356	HP:0000007	Autosomal recessive inheritance
OMIM:604290	CP	1356	HP:0000821	Hypothyroidism
OMIM:604290	CP	1356	HP:0002167	Neurological speech impairment
OMIM:604290	CP	1356	HP:0000708	Behavioral abnormality
OMIM:604290	CP	1356	HP:0000643	Blepharospasm
OMIM:604290	CP	1356	HP:0002072	Chorea
OMIM:604290	CP	1356	HP:0000473	Torticollis
OMIM:604290	CP	1356	HP:0011031	Abnormality of iron homeostasis
OMIM:604290	CP	1356	HP:0000546	Retinal degeneration
OMIM:604290	CP	1356	HP:0003581	Adult onset
OMIM:604290	CP	1356	HP:0001276	Hypertonia
OMIM:604290	CP	1356	HP:0001260	Dysarthria
OMIM:613983	RLBP1	6017	HP:0000505	Visual impairment
OMIM:613983	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613983	RLBP1	6017	HP:0007663	Reduced visual acuity
OMIM:613983	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:613983	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613983	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613983	SPATA7	55812	HP:0007663	Reduced visual acuity
OMIM:613983	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:613983	ARL6	84100	HP:0000505	Visual impairment
OMIM:613983	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613983	ARL6	84100	HP:0007663	Reduced visual acuity
OMIM:613983	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:613983	CERKL	375298	HP:0000505	Visual impairment
OMIM:613983	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613983	CERKL	375298	HP:0007663	Reduced visual acuity
OMIM:613983	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PRPF31	26121	HP:0000505	Visual impairment
OMIM:613983	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613983	PRPF31	26121	HP:0007663	Reduced visual acuity
OMIM:613983	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:613983	TTC8	123016	HP:0000505	Visual impairment
OMIM:613983	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613983	TTC8	123016	HP:0007663	Reduced visual acuity
OMIM:613983	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PROM1	8842	HP:0000505	Visual impairment
OMIM:613983	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613983	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:613983	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:613983	LRAT	9227	HP:0000505	Visual impairment
OMIM:613983	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613983	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:613983	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:613983	IFT140	9742	HP:0000505	Visual impairment
OMIM:613983	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613983	IFT140	9742	HP:0007663	Reduced visual acuity
OMIM:613983	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:613983	BEST1	7439	HP:0000505	Visual impairment
OMIM:613983	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613983	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:613983	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:613983	NEK2	4751	HP:0000505	Visual impairment
OMIM:613983	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613983	NEK2	4751	HP:0007663	Reduced visual acuity
OMIM:613983	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:613983	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:613983	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613983	ARL2BP	23568	HP:0007663	Reduced visual acuity
OMIM:613983	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:613983	NR2E3	10002	HP:0000505	Visual impairment
OMIM:613983	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613983	NR2E3	10002	HP:0007663	Reduced visual acuity
OMIM:613983	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:613983	EYS	346007	HP:0000505	Visual impairment
OMIM:613983	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613983	EYS	346007	HP:0007663	Reduced visual acuity
OMIM:613983	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:613983	MAK	4117	HP:0000505	Visual impairment
OMIM:613983	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613983	MAK	4117	HP:0007663	Reduced visual acuity
OMIM:613983	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:613983	SAG	6295	HP:0000505	Visual impairment
OMIM:613983	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613983	SAG	6295	HP:0007663	Reduced visual acuity
OMIM:613983	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:613983	ABCA4	24	HP:0000505	Visual impairment
OMIM:613983	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613983	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:613983	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613983	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613983	PDE6A	5145	HP:0007663	Reduced visual acuity
OMIM:613983	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PDE6G	5148	HP:0000505	Visual impairment
OMIM:613983	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613983	PDE6G	5148	HP:0007663	Reduced visual acuity
OMIM:613983	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:613983	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613983	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613983	IMPDH1	3614	HP:0007663	Reduced visual acuity
OMIM:613983	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:613983	OFD1	8481	HP:0000505	Visual impairment
OMIM:613983	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613983	OFD1	8481	HP:0007663	Reduced visual acuity
OMIM:613983	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:613983	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613983	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613983	GUCA1B	2979	HP:0007663	Reduced visual acuity
OMIM:613983	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:613983	NRL	4901	HP:0000505	Visual impairment
OMIM:613983	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613983	NRL	4901	HP:0007663	Reduced visual acuity
OMIM:613983	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PDE6B	5158	HP:0000505	Visual impairment
OMIM:613983	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613983	PDE6B	5158	HP:0007663	Reduced visual acuity
OMIM:613983	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:613983	KLHL7	55975	HP:0000505	Visual impairment
OMIM:613983	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613983	KLHL7	55975	HP:0007663	Reduced visual acuity
OMIM:613983	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PRPF4	9128	HP:0000505	Visual impairment
OMIM:613983	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613983	PRPF4	9128	HP:0007663	Reduced visual acuity
OMIM:613983	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PRPF3	9129	HP:0000505	Visual impairment
OMIM:613983	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613983	PRPF3	9129	HP:0007663	Reduced visual acuity
OMIM:613983	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:613983	FAM161A	84140	HP:0000505	Visual impairment
OMIM:613983	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613983	FAM161A	84140	HP:0007663	Reduced visual acuity
OMIM:613983	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:613983	IFT172	26160	HP:0000505	Visual impairment
OMIM:613983	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613983	IFT172	26160	HP:0007663	Reduced visual acuity
OMIM:613983	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:613983	KIZ	55857	HP:0000505	Visual impairment
OMIM:613983	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613983	KIZ	55857	HP:0007663	Reduced visual acuity
OMIM:613983	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:613983	CDHR1	92211	HP:0000505	Visual impairment
OMIM:613983	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613983	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:613983	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:613983	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613983	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613983	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:613983	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:613983	RBP3	5949	HP:0000505	Visual impairment
OMIM:613983	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613983	RBP3	5949	HP:0007663	Reduced visual acuity
OMIM:613983	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:613983	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:613983	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613983	HGSNAT	138050	HP:0007663	Reduced visual acuity
OMIM:613983	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:613983	FSCN2	25794	HP:0000505	Visual impairment
OMIM:613983	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613983	FSCN2	25794	HP:0007663	Reduced visual acuity
OMIM:613983	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PRCD	768206	HP:0000505	Visual impairment
OMIM:613983	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613983	PRCD	768206	HP:0007663	Reduced visual acuity
OMIM:613983	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:613983	BBS2	583	HP:0000505	Visual impairment
OMIM:613983	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613983	BBS2	583	HP:0007663	Reduced visual acuity
OMIM:613983	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:613983	RDH12	145226	HP:0000505	Visual impairment
OMIM:613983	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613983	RDH12	145226	HP:0007663	Reduced visual acuity
OMIM:613983	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PRPH2	5961	HP:0000505	Visual impairment
OMIM:613983	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613983	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:613983	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:613983	DHDDS	79947	HP:0000505	Visual impairment
OMIM:613983	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613983	DHDDS	79947	HP:0007663	Reduced visual acuity
OMIM:613983	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:613983	ROM1	6094	HP:0000505	Visual impairment
OMIM:613983	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613983	ROM1	6094	HP:0007663	Reduced visual acuity
OMIM:613983	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:613983	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613983	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613983	C2ORF71	388939	HP:0007663	Reduced visual acuity
OMIM:613983	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613983	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613983	PRPF6	24148	HP:0007663	Reduced visual acuity
OMIM:613983	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:613983	RP9	6100	HP:0000505	Visual impairment
OMIM:613983	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613983	RP9	6100	HP:0007663	Reduced visual acuity
OMIM:613983	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:613983	RP1	6101	HP:0000505	Visual impairment
OMIM:613983	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613983	RP1	6101	HP:0007663	Reduced visual acuity
OMIM:613983	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:613983	RP2	6102	HP:0000505	Visual impairment
OMIM:613983	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613983	RP2	6102	HP:0007663	Reduced visual acuity
OMIM:613983	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:613983	RPGR	6103	HP:0000505	Visual impairment
OMIM:613983	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613983	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:613983	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:613983	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:613983	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613983	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:613983	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:613983	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:613983	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613983	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:613983	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:613983	IDH3B	3420	HP:0000505	Visual impairment
OMIM:613983	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613983	IDH3B	3420	HP:0007663	Reduced visual acuity
OMIM:613983	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:613983	MERTK	10461	HP:0000505	Visual impairment
OMIM:613983	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613983	MERTK	10461	HP:0007663	Reduced visual acuity
OMIM:613983	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:613983	PRPF8	10594	HP:0000505	Visual impairment
OMIM:613983	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613983	PRPF8	10594	HP:0007663	Reduced visual acuity
OMIM:613983	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:613983	TOPORS	10210	HP:0000505	Visual impairment
OMIM:613983	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613983	TOPORS	10210	HP:0007663	Reduced visual acuity
OMIM:613983	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:613983	USH2A	7399	HP:0000505	Visual impairment
OMIM:613983	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613983	USH2A	7399	HP:0007663	Reduced visual acuity
OMIM:613983	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:613983	RPE65	6121	HP:0000505	Visual impairment
OMIM:613983	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613983	RPE65	6121	HP:0007663	Reduced visual acuity
OMIM:613983	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:613983	CLRN1	7401	HP:0000505	Visual impairment
OMIM:613983	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613983	CLRN1	7401	HP:0007663	Reduced visual acuity
OMIM:613983	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:613983	CNGB1	1258	HP:0000505	Visual impairment
OMIM:613983	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613983	CNGB1	1258	HP:0007663	Reduced visual acuity
OMIM:613983	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:613983	RGR	5995	HP:0000505	Visual impairment
OMIM:613983	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613983	RGR	5995	HP:0007663	Reduced visual acuity
OMIM:613983	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:613983	CNGA1	1259	HP:0000505	Visual impairment
OMIM:613983	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613983	CNGA1	1259	HP:0007663	Reduced visual acuity
OMIM:613983	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:613983	TUB	7275	HP:0000505	Visual impairment
OMIM:613983	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613983	TUB	7275	HP:0007663	Reduced visual acuity
OMIM:613983	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:613983	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:613983	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613983	SNRNP200	23020	HP:0007663	Reduced visual acuity
OMIM:613983	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:613983	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:613983	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613983	SLC7A14	57709	HP:0007663	Reduced visual acuity
OMIM:613983	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:613983	TULP1	7287	HP:0000505	Visual impairment
OMIM:613983	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613983	TULP1	7287	HP:0007663	Reduced visual acuity
OMIM:613983	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:613983	RHO	6010	HP:0000505	Visual impairment
OMIM:613983	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613983	RHO	6010	HP:0007663	Reduced visual acuity
OMIM:613983	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:613983	CA4	762	HP:0000505	Visual impairment
OMIM:613983	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613983	CA4	762	HP:0007663	Reduced visual acuity
OMIM:613983	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:613983	CRB1	23418	HP:0000505	Visual impairment
OMIM:613983	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613983	CRB1	23418	HP:0007663	Reduced visual acuity
OMIM:613983	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:613983	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613983	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613983	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:613983	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:613983	ZNF513	130557	HP:0000505	Visual impairment
OMIM:613983	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613983	ZNF513	130557	HP:0007663	Reduced visual acuity
OMIM:613983	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:613983	CRX	1406	HP:0000505	Visual impairment
OMIM:613983	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613983	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:613983	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:251505	VSX2	338917	HP:0000568	Microphthalmia
OMIM:251505	VSX2	338917	HP:0000007	Autosomal recessive inheritance
OMIM:251505	TENM3	55714	HP:0000568	Microphthalmia
OMIM:251505	TENM3	55714	HP:0000007	Autosomal recessive inheritance
OMIM:251505	SHH	6469	HP:0000568	Microphthalmia
OMIM:251505	SHH	6469	HP:0000007	Autosomal recessive inheritance
OMIM:251505	GDF3	9573	HP:0000568	Microphthalmia
OMIM:251505	GDF3	9573	HP:0000007	Autosomal recessive inheritance
OMIM:251505	GDF6	392255	HP:0000568	Microphthalmia
OMIM:251505	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:251505	ABCB6	10058	HP:0000568	Microphthalmia
OMIM:251505	ABCB6	10058	HP:0000007	Autosomal recessive inheritance
OMIM:251505	STRA6	64220	HP:0000568	Microphthalmia
OMIM:251505	STRA6	64220	HP:0000007	Autosomal recessive inheritance
OMIM:251505	RBP4	5950	HP:0000568	Microphthalmia
OMIM:251505	RBP4	5950	HP:0000007	Autosomal recessive inheritance
OMIM:129490	EDAR	10913	HP:0000966	Hypohidrosis
OMIM:129490	EDAR	10913	HP:0000968	Ectodermal dysplasia
OMIM:129490	EDAR	10913	HP:0002213	Fine hair
OMIM:129490	EDAR	10913	HP:0000006	Autosomal dominant inheritance
OMIM:129490	EDAR	10913	HP:0000691	Microdontia
OMIM:129490	EDAR	10913	HP:0000535	Sparse eyebrow
OMIM:129490	EDAR	10913	HP:0002217	Slow-growing hair
OMIM:129490	EDAR	10913	HP:0000674	Anodontia
OMIM:129490	EDAR	10913	HP:0001425	Heterogeneous
OMIM:129490	EDAR	10913	HP:0000653	Sparse eyelashes
OMIM:129490	EDAR	10913	HP:0002164	Nail dysplasia
OMIM:129490	EDAR	10913	HP:0000958	Dry skin
OMIM:129490	EDAR	10913	HP:0000668	Hypodontia
OMIM:129490	EDARADD	128178	HP:0000966	Hypohidrosis
OMIM:129490	EDARADD	128178	HP:0000968	Ectodermal dysplasia
OMIM:129490	EDARADD	128178	HP:0002213	Fine hair
OMIM:129490	EDARADD	128178	HP:0000006	Autosomal dominant inheritance
OMIM:129490	EDARADD	128178	HP:0000691	Microdontia
OMIM:129490	EDARADD	128178	HP:0000535	Sparse eyebrow
OMIM:129490	EDARADD	128178	HP:0002217	Slow-growing hair
OMIM:129490	EDARADD	128178	HP:0000674	Anodontia
OMIM:129490	EDARADD	128178	HP:0001425	Heterogeneous
OMIM:129490	EDARADD	128178	HP:0000653	Sparse eyelashes
OMIM:129490	EDARADD	128178	HP:0002164	Nail dysplasia
OMIM:129490	EDARADD	128178	HP:0000958	Dry skin
OMIM:129490	EDARADD	128178	HP:0000668	Hypodontia
OMIM:129490	TRAF6	7189	HP:0000966	Hypohidrosis
OMIM:129490	TRAF6	7189	HP:0000968	Ectodermal dysplasia
OMIM:129490	TRAF6	7189	HP:0002213	Fine hair
OMIM:129490	TRAF6	7189	HP:0000006	Autosomal dominant inheritance
OMIM:129490	TRAF6	7189	HP:0000691	Microdontia
OMIM:129490	TRAF6	7189	HP:0000535	Sparse eyebrow
OMIM:129490	TRAF6	7189	HP:0002217	Slow-growing hair
OMIM:129490	TRAF6	7189	HP:0000674	Anodontia
OMIM:129490	TRAF6	7189	HP:0001425	Heterogeneous
OMIM:129490	TRAF6	7189	HP:0000653	Sparse eyelashes
OMIM:129490	TRAF6	7189	HP:0002164	Nail dysplasia
OMIM:129490	TRAF6	7189	HP:0000958	Dry skin
OMIM:129490	TRAF6	7189	HP:0000668	Hypodontia
OMIM:614020	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:614020	METTL23	124512	HP:0001249	Intellectual disability
OMIM:614020	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:614020	CRADD	8738	HP:0001249	Intellectual disability
OMIM:614020	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:614020	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:614020	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:614020	FMN2	56776	HP:0001249	Intellectual disability
OMIM:614020	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:614020	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:614020	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:614020	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:614020	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:614020	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:614020	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614020	LINS1	55180	HP:0001249	Intellectual disability
OMIM:614020	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:614020	NDST1	3340	HP:0001249	Intellectual disability
OMIM:614020	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:614020	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:614020	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:614020	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:614020	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:614020	CRBN	51185	HP:0001249	Intellectual disability
OMIM:614020	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:614020	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:614020	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:614020	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:614020	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:614020	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:614020	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:614020	TECR	9524	HP:0001249	Intellectual disability
OMIM:614020	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:614020	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:614020	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:614020	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:614020	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:614020	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:614020	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:614020	EDC3	80153	HP:0001249	Intellectual disability
OMIM:614020	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:614020	MED13L	23389	HP:0001249	Intellectual disability
OMIM:614020	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:614020	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:614020	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:614020	MED23	9439	HP:0001249	Intellectual disability
OMIM:610549	INSR	3643	HP:0007440	Generalized hyperpigmentation
OMIM:610549	INSR	3643	HP:0005978	Type II diabetes mellitus
OMIM:610549	INSR	3643	HP:0005616	Accelerated skeletal maturation
OMIM:610549	INSR	3643	HP:0000078	Abnormality of the genital system
OMIM:610549	INSR	3643	HP:0000998	Hypertrichosis
OMIM:610549	INSR	3643	HP:0000962	Hyperkeratosis
OMIM:610549	INSR	3643	HP:0000098	Tall stature
OMIM:120970	AIPL1	23746	HP:0000551	Abnormality of color vision
OMIM:120970	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:120970	AIPL1	23746	HP:0000006	Autosomal dominant inheritance
OMIM:120970	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	AIPL1	23746	HP:0000618	Blindness
OMIM:120970	AIPL1	23746	HP:0001133	Constriction of peripheral visual field
OMIM:120970	AIPL1	23746	HP:0007994	Peripheral visual field loss
OMIM:120970	AIPL1	23746	HP:0000533	Chorioretinal atrophy
OMIM:120970	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:120970	PITPNM3	83394	HP:0000551	Abnormality of color vision
OMIM:120970	PITPNM3	83394	HP:0007663	Reduced visual acuity
OMIM:120970	PITPNM3	83394	HP:0000006	Autosomal dominant inheritance
OMIM:120970	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	PITPNM3	83394	HP:0000618	Blindness
OMIM:120970	PITPNM3	83394	HP:0001133	Constriction of peripheral visual field
OMIM:120970	PITPNM3	83394	HP:0007994	Peripheral visual field loss
OMIM:120970	PITPNM3	83394	HP:0000533	Chorioretinal atrophy
OMIM:120970	PITPNM3	83394	HP:0000662	Nyctalopia
OMIM:120970	OPN1LW	5956	HP:0000551	Abnormality of color vision
OMIM:120970	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:120970	OPN1LW	5956	HP:0000006	Autosomal dominant inheritance
OMIM:120970	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	OPN1LW	5956	HP:0000618	Blindness
OMIM:120970	OPN1LW	5956	HP:0001133	Constriction of peripheral visual field
OMIM:120970	OPN1LW	5956	HP:0007994	Peripheral visual field loss
OMIM:120970	OPN1LW	5956	HP:0000533	Chorioretinal atrophy
OMIM:120970	OPN1LW	5956	HP:0000662	Nyctalopia
OMIM:120970	UNC119	9094	HP:0000551	Abnormality of color vision
OMIM:120970	UNC119	9094	HP:0007663	Reduced visual acuity
OMIM:120970	UNC119	9094	HP:0000006	Autosomal dominant inheritance
OMIM:120970	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	UNC119	9094	HP:0000618	Blindness
OMIM:120970	UNC119	9094	HP:0001133	Constriction of peripheral visual field
OMIM:120970	UNC119	9094	HP:0007994	Peripheral visual field loss
OMIM:120970	UNC119	9094	HP:0000533	Chorioretinal atrophy
OMIM:120970	UNC119	9094	HP:0000662	Nyctalopia
OMIM:120970	RPGRIP1	57096	HP:0000551	Abnormality of color vision
OMIM:120970	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:120970	RPGRIP1	57096	HP:0000006	Autosomal dominant inheritance
OMIM:120970	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	RPGRIP1	57096	HP:0000618	Blindness
OMIM:120970	RPGRIP1	57096	HP:0001133	Constriction of peripheral visual field
OMIM:120970	RPGRIP1	57096	HP:0007994	Peripheral visual field loss
OMIM:120970	RPGRIP1	57096	HP:0000533	Chorioretinal atrophy
OMIM:120970	RPGRIP1	57096	HP:0000662	Nyctalopia
OMIM:120970	PRPH2	5961	HP:0000551	Abnormality of color vision
OMIM:120970	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:120970	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:120970	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	PRPH2	5961	HP:0000618	Blindness
OMIM:120970	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:120970	PRPH2	5961	HP:0007994	Peripheral visual field loss
OMIM:120970	PRPH2	5961	HP:0000533	Chorioretinal atrophy
OMIM:120970	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:120970	CACNA1F	778	HP:0000551	Abnormality of color vision
OMIM:120970	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:120970	CACNA1F	778	HP:0000006	Autosomal dominant inheritance
OMIM:120970	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	CACNA1F	778	HP:0000618	Blindness
OMIM:120970	CACNA1F	778	HP:0001133	Constriction of peripheral visual field
OMIM:120970	CACNA1F	778	HP:0007994	Peripheral visual field loss
OMIM:120970	CACNA1F	778	HP:0000533	Chorioretinal atrophy
OMIM:120970	CACNA1F	778	HP:0000662	Nyctalopia
OMIM:120970	PROM1	8842	HP:0000551	Abnormality of color vision
OMIM:120970	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:120970	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:120970	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	PROM1	8842	HP:0000618	Blindness
OMIM:120970	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:120970	PROM1	8842	HP:0007994	Peripheral visual field loss
OMIM:120970	PROM1	8842	HP:0000533	Chorioretinal atrophy
OMIM:120970	PROM1	8842	HP:0000662	Nyctalopia
OMIM:120970	DRAM2	128338	HP:0000551	Abnormality of color vision
OMIM:120970	DRAM2	128338	HP:0007663	Reduced visual acuity
OMIM:120970	DRAM2	128338	HP:0000006	Autosomal dominant inheritance
OMIM:120970	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	DRAM2	128338	HP:0000618	Blindness
OMIM:120970	DRAM2	128338	HP:0001133	Constriction of peripheral visual field
OMIM:120970	DRAM2	128338	HP:0007994	Peripheral visual field loss
OMIM:120970	DRAM2	128338	HP:0000533	Chorioretinal atrophy
OMIM:120970	DRAM2	128338	HP:0000662	Nyctalopia
OMIM:120970	CACNA2D4	93589	HP:0000551	Abnormality of color vision
OMIM:120970	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:120970	CACNA2D4	93589	HP:0000006	Autosomal dominant inheritance
OMIM:120970	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	CACNA2D4	93589	HP:0000618	Blindness
OMIM:120970	CACNA2D4	93589	HP:0001133	Constriction of peripheral visual field
OMIM:120970	CACNA2D4	93589	HP:0007994	Peripheral visual field loss
OMIM:120970	CACNA2D4	93589	HP:0000533	Chorioretinal atrophy
OMIM:120970	CACNA2D4	93589	HP:0000662	Nyctalopia
OMIM:120970	RAB28	9364	HP:0000551	Abnormality of color vision
OMIM:120970	RAB28	9364	HP:0007663	Reduced visual acuity
OMIM:120970	RAB28	9364	HP:0000006	Autosomal dominant inheritance
OMIM:120970	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	RAB28	9364	HP:0000618	Blindness
OMIM:120970	RAB28	9364	HP:0001133	Constriction of peripheral visual field
OMIM:120970	RAB28	9364	HP:0007994	Peripheral visual field loss
OMIM:120970	RAB28	9364	HP:0000533	Chorioretinal atrophy
OMIM:120970	RAB28	9364	HP:0000662	Nyctalopia
OMIM:120970	RIMS1	22999	HP:0000551	Abnormality of color vision
OMIM:120970	RIMS1	22999	HP:0007663	Reduced visual acuity
OMIM:120970	RIMS1	22999	HP:0000006	Autosomal dominant inheritance
OMIM:120970	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	RIMS1	22999	HP:0000618	Blindness
OMIM:120970	RIMS1	22999	HP:0001133	Constriction of peripheral visual field
OMIM:120970	RIMS1	22999	HP:0007994	Peripheral visual field loss
OMIM:120970	RIMS1	22999	HP:0000533	Chorioretinal atrophy
OMIM:120970	RIMS1	22999	HP:0000662	Nyctalopia
OMIM:120970	RPGR	6103	HP:0000551	Abnormality of color vision
OMIM:120970	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:120970	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:120970	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	RPGR	6103	HP:0000618	Blindness
OMIM:120970	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:120970	RPGR	6103	HP:0007994	Peripheral visual field loss
OMIM:120970	RPGR	6103	HP:0000533	Chorioretinal atrophy
OMIM:120970	RPGR	6103	HP:0000662	Nyctalopia
OMIM:120970	ABCA4	24	HP:0000551	Abnormality of color vision
OMIM:120970	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:120970	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:120970	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	ABCA4	24	HP:0000618	Blindness
OMIM:120970	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:120970	ABCA4	24	HP:0007994	Peripheral visual field loss
OMIM:120970	ABCA4	24	HP:0000533	Chorioretinal atrophy
OMIM:120970	ABCA4	24	HP:0000662	Nyctalopia
OMIM:120970	SEMA4A	64218	HP:0000551	Abnormality of color vision
OMIM:120970	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:120970	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:120970	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	SEMA4A	64218	HP:0000618	Blindness
OMIM:120970	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:120970	SEMA4A	64218	HP:0007994	Peripheral visual field loss
OMIM:120970	SEMA4A	64218	HP:0000533	Chorioretinal atrophy
OMIM:120970	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:120970	C8ORF37	157657	HP:0000551	Abnormality of color vision
OMIM:120970	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:120970	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:120970	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	C8ORF37	157657	HP:0000618	Blindness
OMIM:120970	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:120970	C8ORF37	157657	HP:0007994	Peripheral visual field loss
OMIM:120970	C8ORF37	157657	HP:0000533	Chorioretinal atrophy
OMIM:120970	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:120970	OPN1MW	2652	HP:0000551	Abnormality of color vision
OMIM:120970	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:120970	OPN1MW	2652	HP:0000006	Autosomal dominant inheritance
OMIM:120970	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	OPN1MW	2652	HP:0000618	Blindness
OMIM:120970	OPN1MW	2652	HP:0001133	Constriction of peripheral visual field
OMIM:120970	OPN1MW	2652	HP:0007994	Peripheral visual field loss
OMIM:120970	OPN1MW	2652	HP:0000533	Chorioretinal atrophy
OMIM:120970	OPN1MW	2652	HP:0000662	Nyctalopia
OMIM:120970	GUCA1A	2978	HP:0000551	Abnormality of color vision
OMIM:120970	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:120970	GUCA1A	2978	HP:0000006	Autosomal dominant inheritance
OMIM:120970	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	GUCA1A	2978	HP:0000618	Blindness
OMIM:120970	GUCA1A	2978	HP:0001133	Constriction of peripheral visual field
OMIM:120970	GUCA1A	2978	HP:0007994	Peripheral visual field loss
OMIM:120970	GUCA1A	2978	HP:0000533	Chorioretinal atrophy
OMIM:120970	GUCA1A	2978	HP:0000662	Nyctalopia
OMIM:120970	RAX2	84839	HP:0000551	Abnormality of color vision
OMIM:120970	RAX2	84839	HP:0007663	Reduced visual acuity
OMIM:120970	RAX2	84839	HP:0000006	Autosomal dominant inheritance
OMIM:120970	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	RAX2	84839	HP:0000618	Blindness
OMIM:120970	RAX2	84839	HP:0001133	Constriction of peripheral visual field
OMIM:120970	RAX2	84839	HP:0007994	Peripheral visual field loss
OMIM:120970	RAX2	84839	HP:0000533	Chorioretinal atrophy
OMIM:120970	RAX2	84839	HP:0000662	Nyctalopia
OMIM:120970	CNGA3	1261	HP:0000551	Abnormality of color vision
OMIM:120970	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:120970	CNGA3	1261	HP:0000006	Autosomal dominant inheritance
OMIM:120970	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	CNGA3	1261	HP:0000618	Blindness
OMIM:120970	CNGA3	1261	HP:0001133	Constriction of peripheral visual field
OMIM:120970	CNGA3	1261	HP:0007994	Peripheral visual field loss
OMIM:120970	CNGA3	1261	HP:0000533	Chorioretinal atrophy
OMIM:120970	CNGA3	1261	HP:0000662	Nyctalopia
OMIM:120970	ADAM9	8754	HP:0000551	Abnormality of color vision
OMIM:120970	ADAM9	8754	HP:0007663	Reduced visual acuity
OMIM:120970	ADAM9	8754	HP:0000006	Autosomal dominant inheritance
OMIM:120970	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	ADAM9	8754	HP:0000618	Blindness
OMIM:120970	ADAM9	8754	HP:0001133	Constriction of peripheral visual field
OMIM:120970	ADAM9	8754	HP:0007994	Peripheral visual field loss
OMIM:120970	ADAM9	8754	HP:0000533	Chorioretinal atrophy
OMIM:120970	ADAM9	8754	HP:0000662	Nyctalopia
OMIM:120970	CDHR1	92211	HP:0000551	Abnormality of color vision
OMIM:120970	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:120970	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:120970	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	CDHR1	92211	HP:0000618	Blindness
OMIM:120970	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:120970	CDHR1	92211	HP:0007994	Peripheral visual field loss
OMIM:120970	CDHR1	92211	HP:0000533	Chorioretinal atrophy
OMIM:120970	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:120970	TTLL5	23093	HP:0000551	Abnormality of color vision
OMIM:120970	TTLL5	23093	HP:0007663	Reduced visual acuity
OMIM:120970	TTLL5	23093	HP:0000006	Autosomal dominant inheritance
OMIM:120970	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	TTLL5	23093	HP:0000618	Blindness
OMIM:120970	TTLL5	23093	HP:0001133	Constriction of peripheral visual field
OMIM:120970	TTLL5	23093	HP:0007994	Peripheral visual field loss
OMIM:120970	TTLL5	23093	HP:0000533	Chorioretinal atrophy
OMIM:120970	TTLL5	23093	HP:0000662	Nyctalopia
OMIM:120970	GUCY2D	3000	HP:0000551	Abnormality of color vision
OMIM:120970	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:120970	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:120970	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	GUCY2D	3000	HP:0000618	Blindness
OMIM:120970	GUCY2D	3000	HP:0001133	Constriction of peripheral visual field
OMIM:120970	GUCY2D	3000	HP:0007994	Peripheral visual field loss
OMIM:120970	GUCY2D	3000	HP:0000533	Chorioretinal atrophy
OMIM:120970	GUCY2D	3000	HP:0000662	Nyctalopia
OMIM:120970	POC1B	282809	HP:0000551	Abnormality of color vision
OMIM:120970	POC1B	282809	HP:0007663	Reduced visual acuity
OMIM:120970	POC1B	282809	HP:0000006	Autosomal dominant inheritance
OMIM:120970	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	POC1B	282809	HP:0000618	Blindness
OMIM:120970	POC1B	282809	HP:0001133	Constriction of peripheral visual field
OMIM:120970	POC1B	282809	HP:0007994	Peripheral visual field loss
OMIM:120970	POC1B	282809	HP:0000533	Chorioretinal atrophy
OMIM:120970	POC1B	282809	HP:0000662	Nyctalopia
OMIM:120970	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:120970	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:120970	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:120970	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:120970	CRX	1406	HP:0000618	Blindness
OMIM:120970	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:120970	CRX	1406	HP:0007994	Peripheral visual field loss
OMIM:120970	CRX	1406	HP:0000533	Chorioretinal atrophy
OMIM:120970	CRX	1406	HP:0000662	Nyctalopia
OMIM:224700	MYH7	4625	HP:0001631	Atria septal defect
OMIM:224700	MYH7	4625	HP:0100749	Chest pain
OMIM:224700	MYH7	4625	HP:0002637	Cerebral ischemia
OMIM:224700	MYH7	4625	HP:0002093	Respiratory insufficiency
OMIM:224700	MYH7	4625	HP:0001622	Premature birth
OMIM:224700	MYH7	4625	HP:0000007	Autosomal recessive inheritance
OMIM:224700	MYH7	4625	HP:0001645	Sudden cardiac death
OMIM:224700	MYH7	4625	HP:0011712	Right bundle branch block
OMIM:224700	MYH7	4625	HP:0004306	Abnormality of the endocardium
OMIM:224700	MYH7	4625	HP:0004420	Arterial thrombosis
OMIM:224700	MYH7	4625	HP:0005110	Atrial fibrillation
OMIM:224700	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:224700	MYH7	4625	HP:0001643	Patent ductus arteriosus
OMIM:224700	MYH7	4625	HP:0001702	Abnormality of the tricuspid valve
OMIM:313200	AR	367	HP:0000035	Abnormality of the testis
OMIM:313200	AR	367	HP:0000144	Decreased fertility
OMIM:313200	AR	367	HP:0002015	Dysphagia
OMIM:313200	AR	367	HP:0001265	Hyporeflexia
OMIM:313200	AR	367	HP:0003677	Slow progression
OMIM:313200	AR	367	HP:0001315	Reduced tendon reflexes
OMIM:313200	AR	367	HP:0003236	Elevated serum creatine phosphokinase
OMIM:313200	AR	367	HP:0001252	Muscular hypotonia
OMIM:313200	AR	367	HP:0003690	Limb muscle weakness
OMIM:313200	AR	367	HP:0001260	Dysarthria
OMIM:313200	AR	367	HP:0002380	Fasciculations
OMIM:313200	AR	367	HP:0000153	Abnormality of the mouth
OMIM:313200	AR	367	HP:0003202	Skeletal muscle atrophy
OMIM:313200	AR	367	HP:0002167	Neurological speech impairment
OMIM:313200	AR	367	HP:0001283	Bulbar palsy
OMIM:313200	AR	367	HP:0001337	Tremor
OMIM:313200	AR	367	HP:0003581	Adult onset
OMIM:313200	AR	367	HP:0005978	Type II diabetes mellitus
OMIM:313200	AR	367	HP:0008981	Calf muscle hypertrophy
OMIM:313200	AR	367	HP:0001288	Gait disturbance
OMIM:313200	AR	367	HP:0003119	Abnormality of lipid metabolism
OMIM:313200	AR	367	HP:0009830	Peripheral neuropathy
OMIM:313200	AR	367	HP:0001419	X-linked recessive inheritance
OMIM:313200	AR	367	HP:0003394	Muscle cramps
OMIM:313200	AR	367	HP:0000763	Sensory neuropathy
OMIM:616080	ASPM	259266	HP:0009879	Cortical gyral simplification
OMIM:616080	ASPM	259266	HP:0000252	Microcephaly
OMIM:616080	ASPM	259266	HP:0000340	Sloping forehead
OMIM:616080	ASPM	259266	HP:0001249	Intellectual disability
OMIM:616080	MCPH1	79648	HP:0009879	Cortical gyral simplification
OMIM:616080	MCPH1	79648	HP:0000252	Microcephaly
OMIM:616080	MCPH1	79648	HP:0000340	Sloping forehead
OMIM:616080	MCPH1	79648	HP:0001249	Intellectual disability
OMIM:616080	ANKLE2	23141	HP:0009879	Cortical gyral simplification
OMIM:616080	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:616080	ANKLE2	23141	HP:0000340	Sloping forehead
OMIM:616080	ANKLE2	23141	HP:0001249	Intellectual disability
OMIM:616080	SASS6	163786	HP:0009879	Cortical gyral simplification
OMIM:616080	SASS6	163786	HP:0000252	Microcephaly
OMIM:616080	SASS6	163786	HP:0000340	Sloping forehead
OMIM:616080	SASS6	163786	HP:0001249	Intellectual disability
OMIM:616080	CDK5RAP2	55755	HP:0009879	Cortical gyral simplification
OMIM:616080	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:616080	CDK5RAP2	55755	HP:0000340	Sloping forehead
OMIM:616080	CDK5RAP2	55755	HP:0001249	Intellectual disability
OMIM:616080	MFSD2A	84879	HP:0009879	Cortical gyral simplification
OMIM:616080	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:616080	MFSD2A	84879	HP:0000340	Sloping forehead
OMIM:616080	MFSD2A	84879	HP:0001249	Intellectual disability
OMIM:616080	CEP152	22995	HP:0009879	Cortical gyral simplification
OMIM:616080	CEP152	22995	HP:0000252	Microcephaly
OMIM:616080	CEP152	22995	HP:0000340	Sloping forehead
OMIM:616080	CEP152	22995	HP:0001249	Intellectual disability
OMIM:616080	WDR62	284403	HP:0009879	Cortical gyral simplification
OMIM:616080	WDR62	284403	HP:0000252	Microcephaly
OMIM:616080	WDR62	284403	HP:0000340	Sloping forehead
OMIM:616080	WDR62	284403	HP:0001249	Intellectual disability
OMIM:616080	PHC1	1911	HP:0009879	Cortical gyral simplification
OMIM:616080	PHC1	1911	HP:0000252	Microcephaly
OMIM:616080	PHC1	1911	HP:0000340	Sloping forehead
OMIM:616080	PHC1	1911	HP:0001249	Intellectual disability
OMIM:616080	CASC5	57082	HP:0009879	Cortical gyral simplification
OMIM:616080	CASC5	57082	HP:0000252	Microcephaly
OMIM:616080	CASC5	57082	HP:0000340	Sloping forehead
OMIM:616080	CASC5	57082	HP:0001249	Intellectual disability
OMIM:616080	CENPJ	55835	HP:0009879	Cortical gyral simplification
OMIM:616080	CENPJ	55835	HP:0000252	Microcephaly
OMIM:616080	CENPJ	55835	HP:0000340	Sloping forehead
OMIM:616080	CENPJ	55835	HP:0001249	Intellectual disability
OMIM:616080	STIL	6491	HP:0009879	Cortical gyral simplification
OMIM:616080	STIL	6491	HP:0000252	Microcephaly
OMIM:616080	STIL	6491	HP:0000340	Sloping forehead
OMIM:616080	STIL	6491	HP:0001249	Intellectual disability
OMIM:616080	CDK6	1021	HP:0009879	Cortical gyral simplification
OMIM:616080	CDK6	1021	HP:0000252	Microcephaly
OMIM:616080	CDK6	1021	HP:0000340	Sloping forehead
OMIM:616080	CDK6	1021	HP:0001249	Intellectual disability
OMIM:616080	CEP135	9662	HP:0009879	Cortical gyral simplification
OMIM:616080	CEP135	9662	HP:0000252	Microcephaly
OMIM:616080	CEP135	9662	HP:0000340	Sloping forehead
OMIM:616080	CEP135	9662	HP:0001249	Intellectual disability
OMIM:616080	CEP63	80254	HP:0009879	Cortical gyral simplification
OMIM:616080	CEP63	80254	HP:0000252	Microcephaly
OMIM:616080	CEP63	80254	HP:0000340	Sloping forehead
OMIM:616080	CEP63	80254	HP:0001249	Intellectual disability
OMIM:616566	MESP2	145873	HP:0003416	Spinal canal stenosis
OMIM:616566	LFNG	3955	HP:0003416	Spinal canal stenosis
OMIM:616566	HES7	84667	HP:0003416	Spinal canal stenosis
OMIM:616566	DLL3	10683	HP:0003416	Spinal canal stenosis
OMIM:616566	RIPPLY2	134701	HP:0003416	Spinal canal stenosis
OMIM:225060	PVRL1	5818	HP:0000535	Sparse eyebrow
OMIM:225060	PVRL1	5818	HP:0002553	Highly arched eyebrow
OMIM:225060	PVRL1	5818	HP:0000691	Microdontia
OMIM:225060	PVRL1	5818	HP:0001770	Toe syndactyly
OMIM:225060	PVRL1	5818	HP:0008388	Abnormality of the toenails
OMIM:225060	PVRL1	5818	HP:0000968	Ectodermal dysplasia
OMIM:225060	PVRL1	5818	HP:0003777	Pili torti
OMIM:225060	PVRL1	5818	HP:0000046	Scrotal hypoplasia
OMIM:225060	PVRL1	5818	HP:0002164	Nail dysplasia
OMIM:225060	PVRL1	5818	HP:0000007	Autosomal recessive inheritance
OMIM:225060	PVRL1	5818	HP:0000069	Abnormality of the ureter
OMIM:225060	PVRL1	5818	HP:0000674	Anodontia
OMIM:225060	PVRL1	5818	HP:0000175	Cleft palate
OMIM:225060	PVRL1	5818	HP:0000272	Malar flattening
OMIM:225060	PVRL1	5818	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:225060	PVRL1	5818	HP:0006101	Finger syndactyly
OMIM:225060	PVRL1	5818	HP:0000653	Sparse eyelashes
OMIM:225060	PVRL1	5818	HP:0002205	Recurrent respiratory infections
OMIM:225060	PVRL1	5818	HP:0005338	Sparse lateral eyebrow
OMIM:225060	PVRL1	5818	HP:0000682	Abnormality of dental enamel
OMIM:225060	PVRL1	5818	HP:0001596	Alopecia
OMIM:225060	PVRL1	5818	HP:0000670	Carious teeth
OMIM:225060	PVRL1	5818	HP:0100543	Cognitive impairment
OMIM:225060	PVRL1	5818	HP:0006482	Abnormality of dental morphology
OMIM:225060	PVRL1	5818	HP:0000347	Micrognathia
OMIM:225060	PVRL1	5818	HP:0000494	Downslanted palpebral fissures
OMIM:225060	PVRL1	5818	HP:0003307	Hyperlordosis
OMIM:225060	PVRL1	5818	HP:0000204	Cleft upper lip
OMIM:225060	PVRL1	5818	HP:0000431	Wide nasal bridge
OMIM:225060	PVRL1	5818	HP:0000664	Synophrys
OMIM:225060	PVRL1	5818	HP:0004404	Abnormality of the nipple
OMIM:225060	PVRL1	5818	HP:0010719	Abnormality of hair texture
OMIM:225060	PVRL1	5818	HP:0000962	Hyperkeratosis
OMIM:225060	PVRL1	5818	HP:0002353	EEG abnormality
OMIM:225060	PVRL1	5818	HP:0009804	Reduced number of teeth
OMIM:225060	PVRL1	5818	HP:0000668	Hypodontia
OMIM:225060	PVRL1	5818	HP:0000288	Abnormality of the philtrum
OMIM:225060	PVRL1	5818	HP:0001250	Seizures
OMIM:225060	PVRL1	5818	HP:0000598	Abnormality of the ear
OMIM:225060	PVRL1	5818	HP:0000966	Hypohidrosis
OMIM:225060	PVRL1	5818	HP:0001231	Abnormality of the fingernails
OMIM:225060	PVRL1	5818	HP:0000400	Macrotia
OMIM:225060	PVRL1	5818	HP:0000325	Triangular face
OMIM:225060	PVRL1	5818	HP:0010554	Cutaneous finger syndactyly
OMIM:225060	PVRL1	5818	HP:0002167	Neurological speech impairment
OMIM:225060	PVRL1	5818	HP:0000954	Single transverse palmar crease
OMIM:613807	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:613807	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:613807	DNAAF2	55172	HP:0000388	Otitis media
OMIM:613807	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:613807	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
OMIM:613807	DNAAF2	55172	HP:0012262	Abnormal ciliary motility
OMIM:613807	DNAAF2	55172	HP:0001748	Polysplenia
OMIM:613807	DNAAF2	55172	HP:0000789	Infertility
OMIM:613807	DNAAF2	55172	HP:0011109	Chronic sinusitis
OMIM:613807	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:613807	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:613807	CCNO	10309	HP:0000388	Otitis media
OMIM:613807	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:613807	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:613807	CCNO	10309	HP:0012262	Abnormal ciliary motility
OMIM:613807	CCNO	10309	HP:0001748	Polysplenia
OMIM:613807	CCNO	10309	HP:0000789	Infertility
OMIM:613807	CCNO	10309	HP:0011109	Chronic sinusitis
OMIM:613807	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:613807	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:613807	DNAAF5	54919	HP:0000388	Otitis media
OMIM:613807	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:613807	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
OMIM:613807	DNAAF5	54919	HP:0012262	Abnormal ciliary motility
OMIM:613807	DNAAF5	54919	HP:0001748	Polysplenia
OMIM:613807	DNAAF5	54919	HP:0000789	Infertility
OMIM:613807	DNAAF5	54919	HP:0011109	Chronic sinusitis
OMIM:613807	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:613807	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:613807	DNAAF3	352909	HP:0000388	Otitis media
OMIM:613807	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:613807	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:613807	DNAAF3	352909	HP:0012262	Abnormal ciliary motility
OMIM:613807	DNAAF3	352909	HP:0001748	Polysplenia
OMIM:613807	DNAAF3	352909	HP:0000789	Infertility
OMIM:613807	DNAAF3	352909	HP:0011109	Chronic sinusitis
OMIM:613807	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:613807	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:613807	DNAI1	27019	HP:0000388	Otitis media
OMIM:613807	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:613807	DNAI1	27019	HP:0002205	Recurrent respiratory infections
OMIM:613807	DNAI1	27019	HP:0012262	Abnormal ciliary motility
OMIM:613807	DNAI1	27019	HP:0001748	Polysplenia
OMIM:613807	DNAI1	27019	HP:0000789	Infertility
OMIM:613807	DNAI1	27019	HP:0011109	Chronic sinusitis
OMIM:613807	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:613807	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:613807	DRC1	92749	HP:0000388	Otitis media
OMIM:613807	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:613807	DRC1	92749	HP:0002205	Recurrent respiratory infections
OMIM:613807	DRC1	92749	HP:0012262	Abnormal ciliary motility
OMIM:613807	DRC1	92749	HP:0001748	Polysplenia
OMIM:613807	DRC1	92749	HP:0000789	Infertility
OMIM:613807	DRC1	92749	HP:0011109	Chronic sinusitis
OMIM:613807	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:613807	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:613807	SPAG1	6674	HP:0000388	Otitis media
OMIM:613807	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:613807	SPAG1	6674	HP:0002205	Recurrent respiratory infections
OMIM:613807	SPAG1	6674	HP:0012262	Abnormal ciliary motility
OMIM:613807	SPAG1	6674	HP:0001748	Polysplenia
OMIM:613807	SPAG1	6674	HP:0000789	Infertility
OMIM:613807	SPAG1	6674	HP:0011109	Chronic sinusitis
OMIM:613807	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:613807	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:613807	RSPH3	83861	HP:0000388	Otitis media
OMIM:613807	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:613807	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:613807	RSPH3	83861	HP:0012262	Abnormal ciliary motility
OMIM:613807	RSPH3	83861	HP:0001748	Polysplenia
OMIM:613807	RSPH3	83861	HP:0000789	Infertility
OMIM:613807	RSPH3	83861	HP:0011109	Chronic sinusitis
OMIM:613807	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:613807	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613807	RPGR	6103	HP:0000388	Otitis media
OMIM:613807	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:613807	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:613807	RPGR	6103	HP:0012262	Abnormal ciliary motility
OMIM:613807	RPGR	6103	HP:0001748	Polysplenia
OMIM:613807	RPGR	6103	HP:0000789	Infertility
OMIM:613807	RPGR	6103	HP:0011109	Chronic sinusitis
OMIM:613807	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:613807	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:613807	LRRC6	23639	HP:0000388	Otitis media
OMIM:613807	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:613807	LRRC6	23639	HP:0002205	Recurrent respiratory infections
OMIM:613807	LRRC6	23639	HP:0012262	Abnormal ciliary motility
OMIM:613807	LRRC6	23639	HP:0001748	Polysplenia
OMIM:613807	LRRC6	23639	HP:0000789	Infertility
OMIM:613807	LRRC6	23639	HP:0011109	Chronic sinusitis
OMIM:613807	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:613807	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:613807	DNAL1	83544	HP:0000388	Otitis media
OMIM:613807	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:613807	DNAL1	83544	HP:0002205	Recurrent respiratory infections
OMIM:613807	DNAL1	83544	HP:0012262	Abnormal ciliary motility
OMIM:613807	DNAL1	83544	HP:0001748	Polysplenia
OMIM:613807	DNAL1	83544	HP:0000789	Infertility
OMIM:613807	DNAL1	83544	HP:0011109	Chronic sinusitis
OMIM:613807	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:613807	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:613807	ARMC4	55130	HP:0000388	Otitis media
OMIM:613807	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:613807	ARMC4	55130	HP:0002205	Recurrent respiratory infections
OMIM:613807	ARMC4	55130	HP:0012262	Abnormal ciliary motility
OMIM:613807	ARMC4	55130	HP:0001748	Polysplenia
OMIM:613807	ARMC4	55130	HP:0000789	Infertility
OMIM:613807	ARMC4	55130	HP:0011109	Chronic sinusitis
OMIM:613807	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:613807	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:613807	CCDC103	388389	HP:0000388	Otitis media
OMIM:613807	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:613807	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:613807	CCDC103	388389	HP:0012262	Abnormal ciliary motility
OMIM:613807	CCDC103	388389	HP:0001748	Polysplenia
OMIM:613807	CCDC103	388389	HP:0000789	Infertility
OMIM:613807	CCDC103	388389	HP:0011109	Chronic sinusitis
OMIM:613807	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:613807	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613807	OFD1	8481	HP:0000388	Otitis media
OMIM:613807	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:613807	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:613807	OFD1	8481	HP:0012262	Abnormal ciliary motility
OMIM:613807	OFD1	8481	HP:0001748	Polysplenia
OMIM:613807	OFD1	8481	HP:0000789	Infertility
OMIM:613807	OFD1	8481	HP:0011109	Chronic sinusitis
OMIM:613807	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:613807	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:613807	DNAAF1	123872	HP:0000388	Otitis media
OMIM:613807	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:613807	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
OMIM:613807	DNAAF1	123872	HP:0012262	Abnormal ciliary motility
OMIM:613807	DNAAF1	123872	HP:0001748	Polysplenia
OMIM:613807	DNAAF1	123872	HP:0000789	Infertility
OMIM:613807	DNAAF1	123872	HP:0011109	Chronic sinusitis
OMIM:613807	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:613807	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:613807	RSPH4A	345895	HP:0000388	Otitis media
OMIM:613807	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:613807	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
OMIM:613807	RSPH4A	345895	HP:0012262	Abnormal ciliary motility
OMIM:613807	RSPH4A	345895	HP:0001748	Polysplenia
OMIM:613807	RSPH4A	345895	HP:0000789	Infertility
OMIM:613807	RSPH4A	345895	HP:0011109	Chronic sinusitis
OMIM:613807	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:613807	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:613807	RSPH1	89765	HP:0000388	Otitis media
OMIM:613807	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:613807	RSPH1	89765	HP:0002205	Recurrent respiratory infections
OMIM:613807	RSPH1	89765	HP:0012262	Abnormal ciliary motility
OMIM:613807	RSPH1	89765	HP:0001748	Polysplenia
OMIM:613807	RSPH1	89765	HP:0000789	Infertility
OMIM:613807	RSPH1	89765	HP:0011109	Chronic sinusitis
OMIM:613807	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:613807	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:613807	ZMYND10	51364	HP:0000388	Otitis media
OMIM:613807	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:613807	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
OMIM:613807	ZMYND10	51364	HP:0012262	Abnormal ciliary motility
OMIM:613807	ZMYND10	51364	HP:0001748	Polysplenia
OMIM:613807	ZMYND10	51364	HP:0000789	Infertility
OMIM:613807	ZMYND10	51364	HP:0011109	Chronic sinusitis
OMIM:613807	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:613807	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:613807	DNAH5	1767	HP:0000388	Otitis media
OMIM:613807	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:613807	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:613807	DNAH5	1767	HP:0012262	Abnormal ciliary motility
OMIM:613807	DNAH5	1767	HP:0001748	Polysplenia
OMIM:613807	DNAH5	1767	HP:0000789	Infertility
OMIM:613807	DNAH5	1767	HP:0011109	Chronic sinusitis
OMIM:613807	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:613807	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:613807	CCDC65	85478	HP:0000388	Otitis media
OMIM:613807	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:613807	CCDC65	85478	HP:0002205	Recurrent respiratory infections
OMIM:613807	CCDC65	85478	HP:0012262	Abnormal ciliary motility
OMIM:613807	CCDC65	85478	HP:0001748	Polysplenia
OMIM:613807	CCDC65	85478	HP:0000789	Infertility
OMIM:613807	CCDC65	85478	HP:0011109	Chronic sinusitis
OMIM:613807	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:613807	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:613807	C21ORF59	56683	HP:0000388	Otitis media
OMIM:613807	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:613807	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
OMIM:613807	C21ORF59	56683	HP:0012262	Abnormal ciliary motility
OMIM:613807	C21ORF59	56683	HP:0001748	Polysplenia
OMIM:613807	C21ORF59	56683	HP:0000789	Infertility
OMIM:613807	C21ORF59	56683	HP:0011109	Chronic sinusitis
OMIM:613807	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:613807	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:613807	DYX1C1	161582	HP:0000388	Otitis media
OMIM:613807	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:613807	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
OMIM:613807	DYX1C1	161582	HP:0012262	Abnormal ciliary motility
OMIM:613807	DYX1C1	161582	HP:0001748	Polysplenia
OMIM:613807	DYX1C1	161582	HP:0000789	Infertility
OMIM:613807	DYX1C1	161582	HP:0011109	Chronic sinusitis
OMIM:613807	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:613807	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:613807	CCDC151	115948	HP:0000388	Otitis media
OMIM:613807	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:613807	CCDC151	115948	HP:0002205	Recurrent respiratory infections
OMIM:613807	CCDC151	115948	HP:0012262	Abnormal ciliary motility
OMIM:613807	CCDC151	115948	HP:0001748	Polysplenia
OMIM:613807	CCDC151	115948	HP:0000789	Infertility
OMIM:613807	CCDC151	115948	HP:0011109	Chronic sinusitis
OMIM:613807	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:613807	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:613807	RSPH9	221421	HP:0000388	Otitis media
OMIM:613807	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:613807	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:613807	RSPH9	221421	HP:0012262	Abnormal ciliary motility
OMIM:613807	RSPH9	221421	HP:0001748	Polysplenia
OMIM:613807	RSPH9	221421	HP:0000789	Infertility
OMIM:613807	RSPH9	221421	HP:0011109	Chronic sinusitis
OMIM:613807	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:613807	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:613807	CCDC39	339829	HP:0000388	Otitis media
OMIM:613807	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:613807	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:613807	CCDC39	339829	HP:0012262	Abnormal ciliary motility
OMIM:613807	CCDC39	339829	HP:0001748	Polysplenia
OMIM:613807	CCDC39	339829	HP:0000789	Infertility
OMIM:613807	CCDC39	339829	HP:0011109	Chronic sinusitis
OMIM:613807	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:613807	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:613807	HYDIN	54768	HP:0000388	Otitis media
OMIM:613807	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:613807	HYDIN	54768	HP:0002205	Recurrent respiratory infections
OMIM:613807	HYDIN	54768	HP:0012262	Abnormal ciliary motility
OMIM:613807	HYDIN	54768	HP:0001748	Polysplenia
OMIM:613807	HYDIN	54768	HP:0000789	Infertility
OMIM:613807	HYDIN	54768	HP:0011109	Chronic sinusitis
OMIM:613807	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:613807	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:613807	CCDC114	93233	HP:0000388	Otitis media
OMIM:613807	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:613807	CCDC114	93233	HP:0002205	Recurrent respiratory infections
OMIM:613807	CCDC114	93233	HP:0012262	Abnormal ciliary motility
OMIM:613807	CCDC114	93233	HP:0001748	Polysplenia
OMIM:613807	CCDC114	93233	HP:0000789	Infertility
OMIM:613807	CCDC114	93233	HP:0011109	Chronic sinusitis
OMIM:613807	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:613807	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:613807	NME8	51314	HP:0000388	Otitis media
OMIM:613807	NME8	51314	HP:0002110	Bronchiectasis
OMIM:613807	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:613807	NME8	51314	HP:0012262	Abnormal ciliary motility
OMIM:613807	NME8	51314	HP:0001748	Polysplenia
OMIM:613807	NME8	51314	HP:0000789	Infertility
OMIM:613807	NME8	51314	HP:0011109	Chronic sinusitis
OMIM:613807	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:613807	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:613807	CCDC40	55036	HP:0000388	Otitis media
OMIM:613807	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:613807	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:613807	CCDC40	55036	HP:0012262	Abnormal ciliary motility
OMIM:613807	CCDC40	55036	HP:0001748	Polysplenia
OMIM:613807	CCDC40	55036	HP:0000789	Infertility
OMIM:613807	CCDC40	55036	HP:0011109	Chronic sinusitis
OMIM:613807	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:613807	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:613807	DNAH11	8701	HP:0000388	Otitis media
OMIM:613807	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:613807	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:613807	DNAH11	8701	HP:0012262	Abnormal ciliary motility
OMIM:613807	DNAH11	8701	HP:0001748	Polysplenia
OMIM:613807	DNAH11	8701	HP:0000789	Infertility
OMIM:613807	DNAH11	8701	HP:0011109	Chronic sinusitis
OMIM:613807	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:613807	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:613807	DNAI2	64446	HP:0000388	Otitis media
OMIM:613807	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:613807	DNAI2	64446	HP:0002205	Recurrent respiratory infections
OMIM:613807	DNAI2	64446	HP:0012262	Abnormal ciliary motility
OMIM:613807	DNAI2	64446	HP:0001748	Polysplenia
OMIM:613807	DNAI2	64446	HP:0000789	Infertility
OMIM:613807	DNAI2	64446	HP:0011109	Chronic sinusitis
OMIM:613807	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:613807	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:613807	GAS8	2622	HP:0000388	Otitis media
OMIM:613807	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:613807	GAS8	2622	HP:0002205	Recurrent respiratory infections
OMIM:613807	GAS8	2622	HP:0012262	Abnormal ciliary motility
OMIM:613807	GAS8	2622	HP:0001748	Polysplenia
OMIM:613807	GAS8	2622	HP:0000789	Infertility
OMIM:613807	GAS8	2622	HP:0011109	Chronic sinusitis
OMIM:613990	ACD	65057	HP:0001915	Aplastic anemia
OMIM:613990	ACD	65057	HP:0000252	Microcephaly
OMIM:613990	ACD	65057	HP:0001596	Alopecia
OMIM:613990	ACD	65057	HP:0000365	Hearing impairment
OMIM:613990	ACD	65057	HP:0000939	Osteoporosis
OMIM:613990	ACD	65057	HP:0000028	Cryptorchidism
OMIM:613990	ACD	65057	HP:0001873	Thrombocytopenia
OMIM:613990	ACD	65057	HP:0002206	Pulmonary fibrosis
OMIM:613990	ACD	65057	HP:0005528	Bone marrow hypocellularity
OMIM:613990	ACD	65057	HP:0001251	Ataxia
OMIM:613990	ACD	65057	HP:0004322	Short stature
OMIM:613990	ACD	65057	HP:0001321	Cerebellar hypoplasia
OMIM:613990	ACD	65057	HP:0009926	Increased lacrimation
OMIM:613990	ACD	65057	HP:0000006	Autosomal dominant inheritance
OMIM:613990	ACD	65057	HP:0000488	Retinopathy
OMIM:613990	ACD	65057	HP:0000750	Delayed speech and language development
OMIM:613990	ACD	65057	HP:0001511	Intrauterine growth retardation
OMIM:613990	ACD	65057	HP:0001882	Leukopenia
OMIM:613990	ACD	65057	HP:0000958	Dry skin
OMIM:613990	ACD	65057	HP:0002164	Nail dysplasia
OMIM:613990	ACD	65057	HP:0002514	Cerebral calcification
OMIM:613990	ACD	65057	HP:0002216	Premature graying of hair
OMIM:613990	PARN	5073	HP:0001915	Aplastic anemia
OMIM:613990	PARN	5073	HP:0000252	Microcephaly
OMIM:613990	PARN	5073	HP:0001596	Alopecia
OMIM:613990	PARN	5073	HP:0000365	Hearing impairment
OMIM:613990	PARN	5073	HP:0000939	Osteoporosis
OMIM:613990	PARN	5073	HP:0000028	Cryptorchidism
OMIM:613990	PARN	5073	HP:0001873	Thrombocytopenia
OMIM:613990	PARN	5073	HP:0002206	Pulmonary fibrosis
OMIM:613990	PARN	5073	HP:0005528	Bone marrow hypocellularity
OMIM:613990	PARN	5073	HP:0001251	Ataxia
OMIM:613990	PARN	5073	HP:0004322	Short stature
OMIM:613990	PARN	5073	HP:0001321	Cerebellar hypoplasia
OMIM:613990	PARN	5073	HP:0009926	Increased lacrimation
OMIM:613990	PARN	5073	HP:0000006	Autosomal dominant inheritance
OMIM:613990	PARN	5073	HP:0000488	Retinopathy
OMIM:613990	PARN	5073	HP:0000750	Delayed speech and language development
OMIM:613990	PARN	5073	HP:0001511	Intrauterine growth retardation
OMIM:613990	PARN	5073	HP:0001882	Leukopenia
OMIM:613990	PARN	5073	HP:0000958	Dry skin
OMIM:613990	PARN	5073	HP:0002164	Nail dysplasia
OMIM:613990	PARN	5073	HP:0002514	Cerebral calcification
OMIM:613990	PARN	5073	HP:0002216	Premature graying of hair
OMIM:613990	NOP10	55505	HP:0001915	Aplastic anemia
OMIM:613990	NOP10	55505	HP:0000252	Microcephaly
OMIM:613990	NOP10	55505	HP:0001596	Alopecia
OMIM:613990	NOP10	55505	HP:0000365	Hearing impairment
OMIM:613990	NOP10	55505	HP:0000939	Osteoporosis
OMIM:613990	NOP10	55505	HP:0000028	Cryptorchidism
OMIM:613990	NOP10	55505	HP:0001873	Thrombocytopenia
OMIM:613990	NOP10	55505	HP:0002206	Pulmonary fibrosis
OMIM:613990	NOP10	55505	HP:0005528	Bone marrow hypocellularity
OMIM:613990	NOP10	55505	HP:0001251	Ataxia
OMIM:613990	NOP10	55505	HP:0004322	Short stature
OMIM:613990	NOP10	55505	HP:0001321	Cerebellar hypoplasia
OMIM:613990	NOP10	55505	HP:0009926	Increased lacrimation
OMIM:613990	NOP10	55505	HP:0000006	Autosomal dominant inheritance
OMIM:613990	NOP10	55505	HP:0000488	Retinopathy
OMIM:613990	NOP10	55505	HP:0000750	Delayed speech and language development
OMIM:613990	NOP10	55505	HP:0001511	Intrauterine growth retardation
OMIM:613990	NOP10	55505	HP:0001882	Leukopenia
OMIM:613990	NOP10	55505	HP:0000958	Dry skin
OMIM:613990	NOP10	55505	HP:0002164	Nail dysplasia
OMIM:613990	NOP10	55505	HP:0002514	Cerebral calcification
OMIM:613990	NOP10	55505	HP:0002216	Premature graying of hair
OMIM:613990	NHP2	55651	HP:0001915	Aplastic anemia
OMIM:613990	NHP2	55651	HP:0000252	Microcephaly
OMIM:613990	NHP2	55651	HP:0001596	Alopecia
OMIM:613990	NHP2	55651	HP:0000365	Hearing impairment
OMIM:613990	NHP2	55651	HP:0000939	Osteoporosis
OMIM:613990	NHP2	55651	HP:0000028	Cryptorchidism
OMIM:613990	NHP2	55651	HP:0001873	Thrombocytopenia
OMIM:613990	NHP2	55651	HP:0002206	Pulmonary fibrosis
OMIM:613990	NHP2	55651	HP:0005528	Bone marrow hypocellularity
OMIM:613990	NHP2	55651	HP:0001251	Ataxia
OMIM:613990	NHP2	55651	HP:0004322	Short stature
OMIM:613990	NHP2	55651	HP:0001321	Cerebellar hypoplasia
OMIM:613990	NHP2	55651	HP:0009926	Increased lacrimation
OMIM:613990	NHP2	55651	HP:0000006	Autosomal dominant inheritance
OMIM:613990	NHP2	55651	HP:0000488	Retinopathy
OMIM:613990	NHP2	55651	HP:0000750	Delayed speech and language development
OMIM:613990	NHP2	55651	HP:0001511	Intrauterine growth retardation
OMIM:613990	NHP2	55651	HP:0001882	Leukopenia
OMIM:613990	NHP2	55651	HP:0000958	Dry skin
OMIM:613990	NHP2	55651	HP:0002164	Nail dysplasia
OMIM:613990	NHP2	55651	HP:0002514	Cerebral calcification
OMIM:613990	NHP2	55651	HP:0002216	Premature graying of hair
OMIM:613990	USB1	79650	HP:0001915	Aplastic anemia
OMIM:613990	USB1	79650	HP:0000252	Microcephaly
OMIM:613990	USB1	79650	HP:0001596	Alopecia
OMIM:613990	USB1	79650	HP:0000365	Hearing impairment
OMIM:613990	USB1	79650	HP:0000939	Osteoporosis
OMIM:613990	USB1	79650	HP:0000028	Cryptorchidism
OMIM:613990	USB1	79650	HP:0001873	Thrombocytopenia
OMIM:613990	USB1	79650	HP:0002206	Pulmonary fibrosis
OMIM:613990	USB1	79650	HP:0005528	Bone marrow hypocellularity
OMIM:613990	USB1	79650	HP:0001251	Ataxia
OMIM:613990	USB1	79650	HP:0004322	Short stature
OMIM:613990	USB1	79650	HP:0001321	Cerebellar hypoplasia
OMIM:613990	USB1	79650	HP:0009926	Increased lacrimation
OMIM:613990	USB1	79650	HP:0000006	Autosomal dominant inheritance
OMIM:613990	USB1	79650	HP:0000488	Retinopathy
OMIM:613990	USB1	79650	HP:0000750	Delayed speech and language development
OMIM:613990	USB1	79650	HP:0001511	Intrauterine growth retardation
OMIM:613990	USB1	79650	HP:0001882	Leukopenia
OMIM:613990	USB1	79650	HP:0000958	Dry skin
OMIM:613990	USB1	79650	HP:0002164	Nail dysplasia
OMIM:613990	USB1	79650	HP:0002514	Cerebral calcification
OMIM:613990	USB1	79650	HP:0002216	Premature graying of hair
OMIM:613990	TERC	7012	HP:0001915	Aplastic anemia
OMIM:613990	TERC	7012	HP:0000252	Microcephaly
OMIM:613990	TERC	7012	HP:0001596	Alopecia
OMIM:613990	TERC	7012	HP:0000365	Hearing impairment
OMIM:613990	TERC	7012	HP:0000939	Osteoporosis
OMIM:613990	TERC	7012	HP:0000028	Cryptorchidism
OMIM:613990	TERC	7012	HP:0001873	Thrombocytopenia
OMIM:613990	TERC	7012	HP:0002206	Pulmonary fibrosis
OMIM:613990	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:613990	TERC	7012	HP:0001251	Ataxia
OMIM:613990	TERC	7012	HP:0004322	Short stature
OMIM:613990	TERC	7012	HP:0001321	Cerebellar hypoplasia
OMIM:613990	TERC	7012	HP:0009926	Increased lacrimation
OMIM:613990	TERC	7012	HP:0000006	Autosomal dominant inheritance
OMIM:613990	TERC	7012	HP:0000488	Retinopathy
OMIM:613990	TERC	7012	HP:0000750	Delayed speech and language development
OMIM:613990	TERC	7012	HP:0001511	Intrauterine growth retardation
OMIM:613990	TERC	7012	HP:0001882	Leukopenia
OMIM:613990	TERC	7012	HP:0000958	Dry skin
OMIM:613990	TERC	7012	HP:0002164	Nail dysplasia
OMIM:613990	TERC	7012	HP:0002514	Cerebral calcification
OMIM:613990	TERC	7012	HP:0002216	Premature graying of hair
OMIM:613990	TINF2	26277	HP:0001915	Aplastic anemia
OMIM:613990	TINF2	26277	HP:0000252	Microcephaly
OMIM:613990	TINF2	26277	HP:0001596	Alopecia
OMIM:613990	TINF2	26277	HP:0000365	Hearing impairment
OMIM:613990	TINF2	26277	HP:0000939	Osteoporosis
OMIM:613990	TINF2	26277	HP:0000028	Cryptorchidism
OMIM:613990	TINF2	26277	HP:0001873	Thrombocytopenia
OMIM:613990	TINF2	26277	HP:0002206	Pulmonary fibrosis
OMIM:613990	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:613990	TINF2	26277	HP:0001251	Ataxia
OMIM:613990	TINF2	26277	HP:0004322	Short stature
OMIM:613990	TINF2	26277	HP:0001321	Cerebellar hypoplasia
OMIM:613990	TINF2	26277	HP:0009926	Increased lacrimation
OMIM:613990	TINF2	26277	HP:0000006	Autosomal dominant inheritance
OMIM:613990	TINF2	26277	HP:0000488	Retinopathy
OMIM:613990	TINF2	26277	HP:0000750	Delayed speech and language development
OMIM:613990	TINF2	26277	HP:0001511	Intrauterine growth retardation
OMIM:613990	TINF2	26277	HP:0001882	Leukopenia
OMIM:613990	TINF2	26277	HP:0000958	Dry skin
OMIM:613990	TINF2	26277	HP:0002164	Nail dysplasia
OMIM:613990	TINF2	26277	HP:0002514	Cerebral calcification
OMIM:613990	TINF2	26277	HP:0002216	Premature graying of hair
OMIM:613990	RTEL1	51750	HP:0001915	Aplastic anemia
OMIM:613990	RTEL1	51750	HP:0000252	Microcephaly
OMIM:613990	RTEL1	51750	HP:0001596	Alopecia
OMIM:613990	RTEL1	51750	HP:0000365	Hearing impairment
OMIM:613990	RTEL1	51750	HP:0000939	Osteoporosis
OMIM:613990	RTEL1	51750	HP:0000028	Cryptorchidism
OMIM:613990	RTEL1	51750	HP:0001873	Thrombocytopenia
OMIM:613990	RTEL1	51750	HP:0002206	Pulmonary fibrosis
OMIM:613990	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
OMIM:613990	RTEL1	51750	HP:0001251	Ataxia
OMIM:613990	RTEL1	51750	HP:0004322	Short stature
OMIM:613990	RTEL1	51750	HP:0001321	Cerebellar hypoplasia
OMIM:613990	RTEL1	51750	HP:0009926	Increased lacrimation
OMIM:613990	RTEL1	51750	HP:0000006	Autosomal dominant inheritance
OMIM:613990	RTEL1	51750	HP:0000488	Retinopathy
OMIM:613990	RTEL1	51750	HP:0000750	Delayed speech and language development
OMIM:613990	RTEL1	51750	HP:0001511	Intrauterine growth retardation
OMIM:613990	RTEL1	51750	HP:0001882	Leukopenia
OMIM:613990	RTEL1	51750	HP:0000958	Dry skin
OMIM:613990	RTEL1	51750	HP:0002164	Nail dysplasia
OMIM:613990	RTEL1	51750	HP:0002514	Cerebral calcification
OMIM:613990	RTEL1	51750	HP:0002216	Premature graying of hair
OMIM:613990	TERT	7015	HP:0001915	Aplastic anemia
OMIM:613990	TERT	7015	HP:0000252	Microcephaly
OMIM:613990	TERT	7015	HP:0001596	Alopecia
OMIM:613990	TERT	7015	HP:0000365	Hearing impairment
OMIM:613990	TERT	7015	HP:0000939	Osteoporosis
OMIM:613990	TERT	7015	HP:0000028	Cryptorchidism
OMIM:613990	TERT	7015	HP:0001873	Thrombocytopenia
OMIM:613990	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:613990	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:613990	TERT	7015	HP:0001251	Ataxia
OMIM:613990	TERT	7015	HP:0004322	Short stature
OMIM:613990	TERT	7015	HP:0001321	Cerebellar hypoplasia
OMIM:613990	TERT	7015	HP:0009926	Increased lacrimation
OMIM:613990	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:613990	TERT	7015	HP:0000488	Retinopathy
OMIM:613990	TERT	7015	HP:0000750	Delayed speech and language development
OMIM:613990	TERT	7015	HP:0001511	Intrauterine growth retardation
OMIM:613990	TERT	7015	HP:0001882	Leukopenia
OMIM:613990	TERT	7015	HP:0000958	Dry skin
OMIM:613990	TERT	7015	HP:0002164	Nail dysplasia
OMIM:613990	TERT	7015	HP:0002514	Cerebral calcification
OMIM:613990	TERT	7015	HP:0002216	Premature graying of hair
OMIM:613990	DKC1	1736	HP:0001915	Aplastic anemia
OMIM:613990	DKC1	1736	HP:0000252	Microcephaly
OMIM:613990	DKC1	1736	HP:0001596	Alopecia
OMIM:613990	DKC1	1736	HP:0000365	Hearing impairment
OMIM:613990	DKC1	1736	HP:0000939	Osteoporosis
OMIM:613990	DKC1	1736	HP:0000028	Cryptorchidism
OMIM:613990	DKC1	1736	HP:0001873	Thrombocytopenia
OMIM:613990	DKC1	1736	HP:0002206	Pulmonary fibrosis
OMIM:613990	DKC1	1736	HP:0005528	Bone marrow hypocellularity
OMIM:613990	DKC1	1736	HP:0001251	Ataxia
OMIM:613990	DKC1	1736	HP:0004322	Short stature
OMIM:613990	DKC1	1736	HP:0001321	Cerebellar hypoplasia
OMIM:613990	DKC1	1736	HP:0009926	Increased lacrimation
OMIM:613990	DKC1	1736	HP:0000006	Autosomal dominant inheritance
OMIM:613990	DKC1	1736	HP:0000488	Retinopathy
OMIM:613990	DKC1	1736	HP:0000750	Delayed speech and language development
OMIM:613990	DKC1	1736	HP:0001511	Intrauterine growth retardation
OMIM:613990	DKC1	1736	HP:0001882	Leukopenia
OMIM:613990	DKC1	1736	HP:0000958	Dry skin
OMIM:613990	DKC1	1736	HP:0002164	Nail dysplasia
OMIM:613990	DKC1	1736	HP:0002514	Cerebral calcification
OMIM:613990	DKC1	1736	HP:0002216	Premature graying of hair
OMIM:613990	CTC1	80169	HP:0001915	Aplastic anemia
OMIM:613990	CTC1	80169	HP:0000252	Microcephaly
OMIM:613990	CTC1	80169	HP:0001596	Alopecia
OMIM:613990	CTC1	80169	HP:0000365	Hearing impairment
OMIM:613990	CTC1	80169	HP:0000939	Osteoporosis
OMIM:613990	CTC1	80169	HP:0000028	Cryptorchidism
OMIM:613990	CTC1	80169	HP:0001873	Thrombocytopenia
OMIM:613990	CTC1	80169	HP:0002206	Pulmonary fibrosis
OMIM:613990	CTC1	80169	HP:0005528	Bone marrow hypocellularity
OMIM:613990	CTC1	80169	HP:0001251	Ataxia
OMIM:613990	CTC1	80169	HP:0004322	Short stature
OMIM:613990	CTC1	80169	HP:0001321	Cerebellar hypoplasia
OMIM:613990	CTC1	80169	HP:0009926	Increased lacrimation
OMIM:613990	CTC1	80169	HP:0000006	Autosomal dominant inheritance
OMIM:613990	CTC1	80169	HP:0000488	Retinopathy
OMIM:613990	CTC1	80169	HP:0000750	Delayed speech and language development
OMIM:613990	CTC1	80169	HP:0001511	Intrauterine growth retardation
OMIM:613990	CTC1	80169	HP:0001882	Leukopenia
OMIM:613990	CTC1	80169	HP:0000958	Dry skin
OMIM:613990	CTC1	80169	HP:0002164	Nail dysplasia
OMIM:613990	CTC1	80169	HP:0002514	Cerebral calcification
OMIM:613990	CTC1	80169	HP:0002216	Premature graying of hair
OMIM:613990	WRAP53	55135	HP:0001915	Aplastic anemia
OMIM:613990	WRAP53	55135	HP:0000252	Microcephaly
OMIM:613990	WRAP53	55135	HP:0001596	Alopecia
OMIM:613990	WRAP53	55135	HP:0000365	Hearing impairment
OMIM:613990	WRAP53	55135	HP:0000939	Osteoporosis
OMIM:613990	WRAP53	55135	HP:0000028	Cryptorchidism
OMIM:613990	WRAP53	55135	HP:0001873	Thrombocytopenia
OMIM:613990	WRAP53	55135	HP:0002206	Pulmonary fibrosis
OMIM:613990	WRAP53	55135	HP:0005528	Bone marrow hypocellularity
OMIM:613990	WRAP53	55135	HP:0001251	Ataxia
OMIM:613990	WRAP53	55135	HP:0004322	Short stature
OMIM:613990	WRAP53	55135	HP:0001321	Cerebellar hypoplasia
OMIM:613990	WRAP53	55135	HP:0009926	Increased lacrimation
OMIM:613990	WRAP53	55135	HP:0000006	Autosomal dominant inheritance
OMIM:613990	WRAP53	55135	HP:0000488	Retinopathy
OMIM:613990	WRAP53	55135	HP:0000750	Delayed speech and language development
OMIM:613990	WRAP53	55135	HP:0001511	Intrauterine growth retardation
OMIM:613990	WRAP53	55135	HP:0001882	Leukopenia
OMIM:613990	WRAP53	55135	HP:0000958	Dry skin
OMIM:613990	WRAP53	55135	HP:0002164	Nail dysplasia
OMIM:613990	WRAP53	55135	HP:0002514	Cerebral calcification
OMIM:613990	WRAP53	55135	HP:0002216	Premature graying of hair
OMIM:151050	PTDSS1	9791	HP:0000047	Hypospadias
OMIM:151050	PTDSS1	9791	HP:0001231	Abnormality of the fingernails
OMIM:151050	PTDSS1	9791	HP:0000347	Micrognathia
OMIM:151050	PTDSS1	9791	HP:0100627	Displacement of the external urethral meatus
OMIM:151050	PTDSS1	9791	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:151050	PTDSS1	9791	HP:0000400	Macrotia
OMIM:151050	PTDSS1	9791	HP:0004299	Hernia of the abdominal wall
OMIM:151050	PTDSS1	9791	HP:0000973	Cutis laxa
OMIM:151050	PTDSS1	9791	HP:0002007	Frontal bossing
OMIM:151050	PTDSS1	9791	HP:0000171	Microglossia
OMIM:151050	PTDSS1	9791	HP:0011220	Prominent forehead
OMIM:151050	PTDSS1	9791	HP:0002750	Delayed skeletal maturation
OMIM:151050	PTDSS1	9791	HP:0001249	Intellectual disability
OMIM:151050	PTDSS1	9791	HP:0000256	Macrocephaly
OMIM:151050	PTDSS1	9791	HP:0000179	Thick lower lip vermilion
OMIM:151050	PTDSS1	9791	HP:0001252	Muscular hypotonia
OMIM:151050	PTDSS1	9791	HP:0000028	Cryptorchidism
OMIM:151050	PTDSS1	9791	HP:0000965	Cutis marmorata
OMIM:151050	PTDSS1	9791	HP:0003103	Abnormal cortical bone morphology
OMIM:151050	PTDSS1	9791	HP:0000006	Autosomal dominant inheritance
OMIM:151050	PTDSS1	9791	HP:0000154	Wide mouth
OMIM:151050	PTDSS1	9791	HP:0004322	Short stature
OMIM:151050	PTDSS1	9791	HP:0006101	Finger syndactyly
OMIM:151050	PTDSS1	9791	HP:0000453	Choanal atresia
OMIM:151050	PTDSS1	9791	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:151050	PTDSS1	9791	HP:0000252	Microcephaly
OMIM:151050	PTDSS1	9791	HP:0000238	Hydrocephalus
OMIM:151050	PTDSS1	9791	HP:0000270	Delayed cranial suture closure
OMIM:151050	PTDSS1	9791	HP:0000023	Inguinal hernia
OMIM:151050	PTDSS1	9791	HP:0000407	Sensorineural hearing impairment
OMIM:151050	PTDSS1	9791	HP:0000337	Broad forehead
OMIM:151050	PTDSS1	9791	HP:0003041	Humeroradial synostosis
OMIM:151050	PTDSS1	9791	HP:0002342	Intellectual disability, moderate
OMIM:151050	PTDSS1	9791	HP:0006152	Proximal symphalangism (hands)
OMIM:151050	PTDSS1	9791	HP:0001159	Syndactyly
OMIM:151050	PTDSS1	9791	HP:0000963	Thin skin
OMIM:151050	PTDSS1	9791	HP:0000682	Abnormality of dental enamel
OMIM:151050	PTDSS1	9791	HP:0001156	Brachydactyly syndrome
OMIM:151050	PTDSS1	9791	HP:0002987	Elbow flexion contracture
OMIM:151050	PTDSS1	9791	HP:0000175	Cleft palate
OMIM:151050	PTDSS1	9791	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:151050	PTDSS1	9791	HP:0000452	Choanal stenosis
OMIM:151050	PTDSS1	9791	HP:0001382	Joint hypermobility
OMIM:151050	PTDSS1	9791	HP:0000041	Chordee
OMIM:151050	PTDSS1	9791	HP:0001274	Agenesis of corpus callosum
OMIM:151050	PTDSS1	9791	HP:0001508	Failure to thrive
OMIM:151050	PTDSS1	9791	HP:0004482	Relative macrocephaly
OMIM:151050	PTDSS1	9791	HP:0003745	Sporadic
OMIM:151050	PTDSS1	9791	HP:0000316	Hypertelorism
OMIM:151050	PTDSS1	9791	HP:0000772	Abnormality of the ribs
OMIM:151050	PTDSS1	9791	HP:0000239	Large fontanelles
OMIM:151050	PTDSS1	9791	HP:0002650	Scoliosis
OMIM:151050	PTDSS1	9791	HP:0003015	Flared metaphysis
OMIM:151050	PTDSS1	9791	HP:0000889	Abnormality of the clavicle
OMIM:151050	PTDSS1	9791	HP:0100543	Cognitive impairment
OMIM:151050	PTDSS1	9791	HP:0000632	Lacrimation abnormality
OMIM:151050	PTDSS1	9791	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:151050	PTDSS1	9791	HP:0001376	Limitation of joint mobility
OMIM:151050	PTDSS1	9791	HP:0000916	Broad clavicles
OMIM:151050	PTDSS1	9791	HP:0002808	Kyphosis
OMIM:151050	PTDSS1	9791	HP:0008070	Sparse hair
OMIM:151050	PTDSS1	9791	HP:0010628	Facial palsy
OMIM:151050	PTDSS1	9791	HP:0000944	Abnormality of the metaphyses
OMIM:151050	PTDSS1	9791	HP:0001511	Intrauterine growth retardation
OMIM:151050	PTDSS1	9791	HP:0006380	Knee flexion contracture
OMIM:151050	PTDSS1	9791	HP:0001163	Abnormality of the metacarpal bones
OMIM:151050	PTDSS1	9791	HP:0000164	Abnormality of the teeth
OMIM:151050	PTDSS1	9791	HP:0011001	Increased bone mineral density
OMIM:151050	PTDSS1	9791	HP:0000303	Mandibular prognathia
OMIM:151050	PTDSS1	9791	HP:0004493	Craniofacial hyperostosis
OMIM:151050	PTDSS1	9791	HP:0007495	Prematurely aged appearance
OMIM:616118	FBN2	2201	HP:0007663	Reduced visual acuity
OMIM:616118	FBN2	2201	HP:0000505	Visual impairment
OMIM:616118	FBN2	2201	HP:0000608	Macular degeneration
OMIM:247200	HIC1	3090	HP:0012385	Camptodactyly
OMIM:247200	HIC1	3090	HP:0000369	Low-set ears
OMIM:247200	HIC1	3090	HP:0001249	Intellectual disability
OMIM:247200	HIC1	3090	HP:0000286	Epicanthus
OMIM:247200	HIC1	3090	HP:0000358	Posteriorly rotated ears
OMIM:247200	HIC1	3090	HP:0002120	Cerebral cortical atrophy
OMIM:247200	HIC1	3090	HP:0001302	Pachygyria
OMIM:247200	HIC1	3090	HP:0000006	Autosomal dominant inheritance
OMIM:247200	HIC1	3090	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:247200	HIC1	3090	HP:0002282	Heterotopia
OMIM:247200	HIC1	3090	HP:0002247	Duodenal atresia
OMIM:247200	HIC1	3090	HP:0000112	Nephropathy
OMIM:247200	HIC1	3090	HP:0000125	Pelvic kidney
OMIM:247200	HIC1	3090	HP:0000684	Delayed eruption of teeth
OMIM:247200	HIC1	3090	HP:0010442	Polydactyly
OMIM:247200	HIC1	3090	HP:0000348	High forehead
OMIM:247200	HIC1	3090	HP:0000219	Thin upper lip vermilion
OMIM:247200	HIC1	3090	HP:0001558	Decreased fetal movement
OMIM:247200	HIC1	3090	HP:0000023	Inguinal hernia
OMIM:247200	HIC1	3090	HP:0001539	Omphalocele
OMIM:247200	HIC1	3090	HP:0000518	Cataract
OMIM:247200	HIC1	3090	HP:0001511	Intrauterine growth retardation
OMIM:247200	HIC1	3090	HP:0000431	Wide nasal bridge
OMIM:247200	HIC1	3090	HP:0002311	Incoordination
OMIM:247200	HIC1	3090	HP:0000175	Cleft palate
OMIM:247200	HIC1	3090	HP:0000954	Single transverse palmar crease
OMIM:247200	HIC1	3090	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:247200	HIC1	3090	HP:0001339	Lissencephaly
OMIM:247200	HIC1	3090	HP:0004209	Clinodactyly of the 5th finger
OMIM:247200	HIC1	3090	HP:0000215	Thick upper lip vermilion
OMIM:247200	HIC1	3090	HP:0001626	Abnormality of the cardiovascular system
OMIM:247200	HIC1	3090	HP:0002007	Frontal bossing
OMIM:247200	HIC1	3090	HP:0000582	Upslanted palpebral fissure
OMIM:247200	HIC1	3090	HP:0001250	Seizures
OMIM:247200	HIC1	3090	HP:0001270	Motor delay
OMIM:247200	HIC1	3090	HP:0000347	Micrognathia
OMIM:247200	HIC1	3090	HP:0000463	Anteverted nares
OMIM:247200	HIC1	3090	HP:0001561	Polyhydramnios
OMIM:247200	HIC1	3090	HP:0002079	Hypoplasia of the corpus callosum
OMIM:247200	HIC1	3090	HP:0009473	Joint contracture of the hand
OMIM:247200	HIC1	3090	HP:0003196	Short nose
OMIM:247200	HIC1	3090	HP:0000252	Microcephaly
OMIM:247200	HIC1	3090	HP:0000960	Sacral dimple
OMIM:247200	HIC1	3090	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:247200	HIC1	3090	HP:0001508	Failure to thrive
OMIM:247200	HIC1	3090	HP:0002353	EEG abnormality
OMIM:247200	HIC1	3090	HP:0000028	Cryptorchidism
OMIM:247200	PAFAH1B1	5048	HP:0012385	Camptodactyly
OMIM:247200	PAFAH1B1	5048	HP:0000369	Low-set ears
OMIM:247200	PAFAH1B1	5048	HP:0001249	Intellectual disability
OMIM:247200	PAFAH1B1	5048	HP:0000286	Epicanthus
OMIM:247200	PAFAH1B1	5048	HP:0000358	Posteriorly rotated ears
OMIM:247200	PAFAH1B1	5048	HP:0002120	Cerebral cortical atrophy
OMIM:247200	PAFAH1B1	5048	HP:0001302	Pachygyria
OMIM:247200	PAFAH1B1	5048	HP:0000006	Autosomal dominant inheritance
OMIM:247200	PAFAH1B1	5048	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:247200	PAFAH1B1	5048	HP:0002282	Heterotopia
OMIM:247200	PAFAH1B1	5048	HP:0002247	Duodenal atresia
OMIM:247200	PAFAH1B1	5048	HP:0000112	Nephropathy
OMIM:247200	PAFAH1B1	5048	HP:0000125	Pelvic kidney
OMIM:247200	PAFAH1B1	5048	HP:0000684	Delayed eruption of teeth
OMIM:247200	PAFAH1B1	5048	HP:0010442	Polydactyly
OMIM:247200	PAFAH1B1	5048	HP:0000348	High forehead
OMIM:247200	PAFAH1B1	5048	HP:0000219	Thin upper lip vermilion
OMIM:247200	PAFAH1B1	5048	HP:0001558	Decreased fetal movement
OMIM:247200	PAFAH1B1	5048	HP:0000023	Inguinal hernia
OMIM:247200	PAFAH1B1	5048	HP:0001539	Omphalocele
OMIM:247200	PAFAH1B1	5048	HP:0000518	Cataract
OMIM:247200	PAFAH1B1	5048	HP:0001511	Intrauterine growth retardation
OMIM:247200	PAFAH1B1	5048	HP:0000431	Wide nasal bridge
OMIM:247200	PAFAH1B1	5048	HP:0002311	Incoordination
OMIM:247200	PAFAH1B1	5048	HP:0000175	Cleft palate
OMIM:247200	PAFAH1B1	5048	HP:0000954	Single transverse palmar crease
OMIM:247200	PAFAH1B1	5048	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:247200	PAFAH1B1	5048	HP:0001339	Lissencephaly
OMIM:247200	PAFAH1B1	5048	HP:0004209	Clinodactyly of the 5th finger
OMIM:247200	PAFAH1B1	5048	HP:0000215	Thick upper lip vermilion
OMIM:247200	PAFAH1B1	5048	HP:0001626	Abnormality of the cardiovascular system
OMIM:247200	PAFAH1B1	5048	HP:0002007	Frontal bossing
OMIM:247200	PAFAH1B1	5048	HP:0000582	Upslanted palpebral fissure
OMIM:247200	PAFAH1B1	5048	HP:0001250	Seizures
OMIM:247200	PAFAH1B1	5048	HP:0001270	Motor delay
OMIM:247200	PAFAH1B1	5048	HP:0000347	Micrognathia
OMIM:247200	PAFAH1B1	5048	HP:0000463	Anteverted nares
OMIM:247200	PAFAH1B1	5048	HP:0001561	Polyhydramnios
OMIM:247200	PAFAH1B1	5048	HP:0002079	Hypoplasia of the corpus callosum
OMIM:247200	PAFAH1B1	5048	HP:0009473	Joint contracture of the hand
OMIM:247200	PAFAH1B1	5048	HP:0003196	Short nose
OMIM:247200	PAFAH1B1	5048	HP:0000252	Microcephaly
OMIM:247200	PAFAH1B1	5048	HP:0000960	Sacral dimple
OMIM:247200	PAFAH1B1	5048	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:247200	PAFAH1B1	5048	HP:0001508	Failure to thrive
OMIM:247200	PAFAH1B1	5048	HP:0002353	EEG abnormality
OMIM:247200	PAFAH1B1	5048	HP:0000028	Cryptorchidism
OMIM:247200	YWHAE	7531	HP:0012385	Camptodactyly
OMIM:247200	YWHAE	7531	HP:0000369	Low-set ears
OMIM:247200	YWHAE	7531	HP:0001249	Intellectual disability
OMIM:247200	YWHAE	7531	HP:0000286	Epicanthus
OMIM:247200	YWHAE	7531	HP:0000358	Posteriorly rotated ears
OMIM:247200	YWHAE	7531	HP:0002120	Cerebral cortical atrophy
OMIM:247200	YWHAE	7531	HP:0001302	Pachygyria
OMIM:247200	YWHAE	7531	HP:0000006	Autosomal dominant inheritance
OMIM:247200	YWHAE	7531	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:247200	YWHAE	7531	HP:0002282	Heterotopia
OMIM:247200	YWHAE	7531	HP:0002247	Duodenal atresia
OMIM:247200	YWHAE	7531	HP:0000112	Nephropathy
OMIM:247200	YWHAE	7531	HP:0000125	Pelvic kidney
OMIM:247200	YWHAE	7531	HP:0000684	Delayed eruption of teeth
OMIM:247200	YWHAE	7531	HP:0010442	Polydactyly
OMIM:247200	YWHAE	7531	HP:0000348	High forehead
OMIM:247200	YWHAE	7531	HP:0000219	Thin upper lip vermilion
OMIM:247200	YWHAE	7531	HP:0001558	Decreased fetal movement
OMIM:247200	YWHAE	7531	HP:0000023	Inguinal hernia
OMIM:247200	YWHAE	7531	HP:0001539	Omphalocele
OMIM:247200	YWHAE	7531	HP:0000518	Cataract
OMIM:247200	YWHAE	7531	HP:0001511	Intrauterine growth retardation
OMIM:247200	YWHAE	7531	HP:0000431	Wide nasal bridge
OMIM:247200	YWHAE	7531	HP:0002311	Incoordination
OMIM:247200	YWHAE	7531	HP:0000175	Cleft palate
OMIM:247200	YWHAE	7531	HP:0000954	Single transverse palmar crease
OMIM:247200	YWHAE	7531	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:247200	YWHAE	7531	HP:0001339	Lissencephaly
OMIM:247200	YWHAE	7531	HP:0004209	Clinodactyly of the 5th finger
OMIM:247200	YWHAE	7531	HP:0000215	Thick upper lip vermilion
OMIM:247200	YWHAE	7531	HP:0001626	Abnormality of the cardiovascular system
OMIM:247200	YWHAE	7531	HP:0002007	Frontal bossing
OMIM:247200	YWHAE	7531	HP:0000582	Upslanted palpebral fissure
OMIM:247200	YWHAE	7531	HP:0001250	Seizures
OMIM:247200	YWHAE	7531	HP:0001270	Motor delay
OMIM:247200	YWHAE	7531	HP:0000347	Micrognathia
OMIM:247200	YWHAE	7531	HP:0000463	Anteverted nares
OMIM:247200	YWHAE	7531	HP:0001561	Polyhydramnios
OMIM:247200	YWHAE	7531	HP:0002079	Hypoplasia of the corpus callosum
OMIM:247200	YWHAE	7531	HP:0009473	Joint contracture of the hand
OMIM:247200	YWHAE	7531	HP:0003196	Short nose
OMIM:247200	YWHAE	7531	HP:0000252	Microcephaly
OMIM:247200	YWHAE	7531	HP:0000960	Sacral dimple
OMIM:247200	YWHAE	7531	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:247200	YWHAE	7531	HP:0001508	Failure to thrive
OMIM:247200	YWHAE	7531	HP:0002353	EEG abnormality
OMIM:247200	YWHAE	7531	HP:0000028	Cryptorchidism
OMIM:608569	TPM1	7168	HP:0006670	Impaired myocardial contractility
OMIM:608569	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:608569	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:608569	TPM1	7168	HP:0004756	Ventricular tachycardia
OMIM:608569	CRYAB	1410	HP:0006670	Impaired myocardial contractility
OMIM:608569	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:608569	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:608569	CRYAB	1410	HP:0004756	Ventricular tachycardia
OMIM:608569	ACTC1	70	HP:0006670	Impaired myocardial contractility
OMIM:608569	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:608569	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:608569	ACTC1	70	HP:0004756	Ventricular tachycardia
OMIM:608569	RAF1	5894	HP:0006670	Impaired myocardial contractility
OMIM:608569	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:608569	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:608569	RAF1	5894	HP:0004756	Ventricular tachycardia
OMIM:608569	GATAD1	57798	HP:0006670	Impaired myocardial contractility
OMIM:608569	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:608569	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:608569	GATAD1	57798	HP:0004756	Ventricular tachycardia
OMIM:608569	LAMA4	3910	HP:0006670	Impaired myocardial contractility
OMIM:608569	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:608569	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:608569	LAMA4	3910	HP:0004756	Ventricular tachycardia
OMIM:608569	TMPO	7112	HP:0006670	Impaired myocardial contractility
OMIM:608569	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:608569	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:608569	TMPO	7112	HP:0004756	Ventricular tachycardia
OMIM:608569	DES	1674	HP:0006670	Impaired myocardial contractility
OMIM:608569	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:608569	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:608569	DES	1674	HP:0004756	Ventricular tachycardia
OMIM:608569	ABCC9	10060	HP:0006670	Impaired myocardial contractility
OMIM:608569	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:608569	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:608569	ABCC9	10060	HP:0004756	Ventricular tachycardia
OMIM:608569	MYH6	4624	HP:0006670	Impaired myocardial contractility
OMIM:608569	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:608569	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:608569	MYH6	4624	HP:0004756	Ventricular tachycardia
OMIM:608569	MYH7	4625	HP:0006670	Impaired myocardial contractility
OMIM:608569	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:608569	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:608569	MYH7	4625	HP:0004756	Ventricular tachycardia
OMIM:608569	LDB3	11155	HP:0006670	Impaired myocardial contractility
OMIM:608569	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:608569	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:608569	LDB3	11155	HP:0004756	Ventricular tachycardia
OMIM:608569	ACTN2	88	HP:0006670	Impaired myocardial contractility
OMIM:608569	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:608569	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:608569	ACTN2	88	HP:0004756	Ventricular tachycardia
OMIM:608569	TXNRD2	10587	HP:0006670	Impaired myocardial contractility
OMIM:608569	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:608569	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:608569	TXNRD2	10587	HP:0004756	Ventricular tachycardia
OMIM:608569	DMD	1756	HP:0006670	Impaired myocardial contractility
OMIM:608569	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:608569	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:608569	DMD	1756	HP:0004756	Ventricular tachycardia
OMIM:608569	TNNC1	7134	HP:0006670	Impaired myocardial contractility
OMIM:608569	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:608569	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:608569	TNNC1	7134	HP:0004756	Ventricular tachycardia
OMIM:608569	PSEN1	5663	HP:0006670	Impaired myocardial contractility
OMIM:608569	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:608569	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:608569	PSEN1	5663	HP:0004756	Ventricular tachycardia
OMIM:608569	PSEN2	5664	HP:0006670	Impaired myocardial contractility
OMIM:608569	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:608569	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:608569	PSEN2	5664	HP:0004756	Ventricular tachycardia
OMIM:608569	TNNI3	7137	HP:0006670	Impaired myocardial contractility
OMIM:608569	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:608569	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:608569	TNNI3	7137	HP:0004756	Ventricular tachycardia
OMIM:608569	FHL2	2274	HP:0006670	Impaired myocardial contractility
OMIM:608569	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:608569	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:608569	FHL2	2274	HP:0004756	Ventricular tachycardia
OMIM:608569	TNNT2	7139	HP:0006670	Impaired myocardial contractility
OMIM:608569	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:608569	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:608569	TNNT2	7139	HP:0004756	Ventricular tachycardia
OMIM:608569	DSG2	1829	HP:0006670	Impaired myocardial contractility
OMIM:608569	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:608569	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:608569	DSG2	1829	HP:0004756	Ventricular tachycardia
OMIM:608569	PLN	5350	HP:0006670	Impaired myocardial contractility
OMIM:608569	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:608569	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:608569	PLN	5350	HP:0004756	Ventricular tachycardia
OMIM:608569	PRDM16	63976	HP:0006670	Impaired myocardial contractility
OMIM:608569	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:608569	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:608569	PRDM16	63976	HP:0004756	Ventricular tachycardia
OMIM:608569	TTN	7273	HP:0006670	Impaired myocardial contractility
OMIM:608569	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:608569	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:608569	TTN	7273	HP:0004756	Ventricular tachycardia
OMIM:608569	NEXN	91624	HP:0006670	Impaired myocardial contractility
OMIM:608569	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:608569	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:608569	NEXN	91624	HP:0004756	Ventricular tachycardia
OMIM:608569	FKTN	2218	HP:0006670	Impaired myocardial contractility
OMIM:608569	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:608569	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:608569	FKTN	2218	HP:0004756	Ventricular tachycardia
OMIM:608569	SGCD	6444	HP:0006670	Impaired myocardial contractility
OMIM:608569	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:608569	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:608569	SGCD	6444	HP:0004756	Ventricular tachycardia
OMIM:608569	TCAP	8557	HP:0006670	Impaired myocardial contractility
OMIM:608569	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:608569	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:608569	TCAP	8557	HP:0004756	Ventricular tachycardia
OMIM:608569	CSRP3	8048	HP:0006670	Impaired myocardial contractility
OMIM:608569	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:608569	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:608569	CSRP3	8048	HP:0004756	Ventricular tachycardia
OMIM:608569	RBM20	282996	HP:0006670	Impaired myocardial contractility
OMIM:608569	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:608569	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:608569	RBM20	282996	HP:0004756	Ventricular tachycardia
OMIM:608569	SDHA	6389	HP:0006670	Impaired myocardial contractility
OMIM:608569	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:608569	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:608569	SDHA	6389	HP:0004756	Ventricular tachycardia
OMIM:608569	TAZ	6901	HP:0006670	Impaired myocardial contractility
OMIM:608569	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:608569	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:608569	TAZ	6901	HP:0004756	Ventricular tachycardia
OMIM:608569	VCL	7414	HP:0006670	Impaired myocardial contractility
OMIM:608569	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:608569	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:608569	VCL	7414	HP:0004756	Ventricular tachycardia
OMIM:608569	MYPN	84665	HP:0006670	Impaired myocardial contractility
OMIM:608569	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:608569	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:608569	MYPN	84665	HP:0004756	Ventricular tachycardia
OMIM:608569	SCN5A	6331	HP:0006670	Impaired myocardial contractility
OMIM:608569	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:608569	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:608569	SCN5A	6331	HP:0004756	Ventricular tachycardia
OMIM:608569	BAG3	9531	HP:0006670	Impaired myocardial contractility
OMIM:608569	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:608569	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:608569	BAG3	9531	HP:0004756	Ventricular tachycardia
OMIM:608569	DOLK	22845	HP:0006670	Impaired myocardial contractility
OMIM:608569	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:608569	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:608569	DOLK	22845	HP:0004756	Ventricular tachycardia
OMIM:608569	MYBPC3	4607	HP:0006670	Impaired myocardial contractility
OMIM:608569	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:608569	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:608569	MYBPC3	4607	HP:0004756	Ventricular tachycardia
OMIM:614643	B4GAT1	11041	HP:0000609	Optic nerve hypoplasia
OMIM:614643	B4GAT1	11041	HP:0000369	Low-set ears
OMIM:614643	B4GAT1	11041	HP:0001284	Areflexia
OMIM:614643	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:614643	B4GAT1	11041	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	B4GAT1	11041	HP:0000541	Retinal detachment
OMIM:614643	B4GAT1	11041	HP:0001558	Decreased fetal movement
OMIM:614643	B4GAT1	11041	HP:0000659	Peters anomaly
OMIM:614643	B4GAT1	11041	HP:0000568	Microphthalmia
OMIM:614643	B4GAT1	11041	HP:0001305	Dandy-Walker malformation
OMIM:614643	B4GAT1	11041	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	B4GAT1	11041	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	B4GAT1	11041	HP:0008551	Microtia
OMIM:614643	B4GAT1	11041	HP:0001302	Pachygyria
OMIM:614643	B4GAT1	11041	HP:0007973	Retinal dysplasia
OMIM:614643	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:614643	B4GAT1	11041	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	B4GAT1	11041	HP:0001252	Muscular hypotonia
OMIM:614643	B4GAT1	11041	HP:0002007	Frontal bossing
OMIM:614643	B4GAT1	11041	HP:0002084	Encephalocele
OMIM:614643	B4GAT1	11041	HP:0001181	Adducted thumb
OMIM:614643	B4GAT1	11041	HP:0000256	Macrocephaly
OMIM:614643	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
OMIM:614643	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:614643	B4GAT1	11041	HP:0002187	Intellectual disability, profound
OMIM:614643	B4GAT1	11041	HP:0000278	Retrognathia
OMIM:614643	B4GAT1	11041	HP:0002126	Polymicrogyria
OMIM:614643	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:614643	B4GAT1	11041	HP:0000490	Deeply set eye
OMIM:614643	B4GAT1	11041	HP:0000501	Glaucoma
OMIM:614643	B4GAT1	11041	HP:0000518	Cataract
OMIM:614643	POMT2	29954	HP:0000609	Optic nerve hypoplasia
OMIM:614643	POMT2	29954	HP:0000369	Low-set ears
OMIM:614643	POMT2	29954	HP:0001284	Areflexia
OMIM:614643	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:614643	POMT2	29954	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	POMT2	29954	HP:0000541	Retinal detachment
OMIM:614643	POMT2	29954	HP:0001558	Decreased fetal movement
OMIM:614643	POMT2	29954	HP:0000659	Peters anomaly
OMIM:614643	POMT2	29954	HP:0000568	Microphthalmia
OMIM:614643	POMT2	29954	HP:0001305	Dandy-Walker malformation
OMIM:614643	POMT2	29954	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	POMT2	29954	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	POMT2	29954	HP:0008551	Microtia
OMIM:614643	POMT2	29954	HP:0001302	Pachygyria
OMIM:614643	POMT2	29954	HP:0007973	Retinal dysplasia
OMIM:614643	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:614643	POMT2	29954	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	POMT2	29954	HP:0001252	Muscular hypotonia
OMIM:614643	POMT2	29954	HP:0002007	Frontal bossing
OMIM:614643	POMT2	29954	HP:0002084	Encephalocele
OMIM:614643	POMT2	29954	HP:0001181	Adducted thumb
OMIM:614643	POMT2	29954	HP:0000256	Macrocephaly
OMIM:614643	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:614643	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:614643	POMT2	29954	HP:0002187	Intellectual disability, profound
OMIM:614643	POMT2	29954	HP:0000278	Retrognathia
OMIM:614643	POMT2	29954	HP:0002126	Polymicrogyria
OMIM:614643	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:614643	POMT2	29954	HP:0000490	Deeply set eye
OMIM:614643	POMT2	29954	HP:0000501	Glaucoma
OMIM:614643	POMT2	29954	HP:0000518	Cataract
OMIM:614643	COL4A1	1282	HP:0000609	Optic nerve hypoplasia
OMIM:614643	COL4A1	1282	HP:0000369	Low-set ears
OMIM:614643	COL4A1	1282	HP:0001284	Areflexia
OMIM:614643	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:614643	COL4A1	1282	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	COL4A1	1282	HP:0000541	Retinal detachment
OMIM:614643	COL4A1	1282	HP:0001558	Decreased fetal movement
OMIM:614643	COL4A1	1282	HP:0000659	Peters anomaly
OMIM:614643	COL4A1	1282	HP:0000568	Microphthalmia
OMIM:614643	COL4A1	1282	HP:0001305	Dandy-Walker malformation
OMIM:614643	COL4A1	1282	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	COL4A1	1282	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	COL4A1	1282	HP:0008551	Microtia
OMIM:614643	COL4A1	1282	HP:0001302	Pachygyria
OMIM:614643	COL4A1	1282	HP:0007973	Retinal dysplasia
OMIM:614643	COL4A1	1282	HP:0000007	Autosomal recessive inheritance
OMIM:614643	COL4A1	1282	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	COL4A1	1282	HP:0001252	Muscular hypotonia
OMIM:614643	COL4A1	1282	HP:0002007	Frontal bossing
OMIM:614643	COL4A1	1282	HP:0002084	Encephalocele
OMIM:614643	COL4A1	1282	HP:0001181	Adducted thumb
OMIM:614643	COL4A1	1282	HP:0000256	Macrocephaly
OMIM:614643	COL4A1	1282	HP:0001321	Cerebellar hypoplasia
OMIM:614643	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:614643	COL4A1	1282	HP:0002187	Intellectual disability, profound
OMIM:614643	COL4A1	1282	HP:0000278	Retrognathia
OMIM:614643	COL4A1	1282	HP:0002126	Polymicrogyria
OMIM:614643	COL4A1	1282	HP:0003560	Muscular dystrophy
OMIM:614643	COL4A1	1282	HP:0000490	Deeply set eye
OMIM:614643	COL4A1	1282	HP:0000501	Glaucoma
OMIM:614643	COL4A1	1282	HP:0000518	Cataract
OMIM:614643	POMK	84197	HP:0000609	Optic nerve hypoplasia
OMIM:614643	POMK	84197	HP:0000369	Low-set ears
OMIM:614643	POMK	84197	HP:0001284	Areflexia
OMIM:614643	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:614643	POMK	84197	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	POMK	84197	HP:0000541	Retinal detachment
OMIM:614643	POMK	84197	HP:0001558	Decreased fetal movement
OMIM:614643	POMK	84197	HP:0000659	Peters anomaly
OMIM:614643	POMK	84197	HP:0000568	Microphthalmia
OMIM:614643	POMK	84197	HP:0001305	Dandy-Walker malformation
OMIM:614643	POMK	84197	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	POMK	84197	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	POMK	84197	HP:0008551	Microtia
OMIM:614643	POMK	84197	HP:0001302	Pachygyria
OMIM:614643	POMK	84197	HP:0007973	Retinal dysplasia
OMIM:614643	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:614643	POMK	84197	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	POMK	84197	HP:0001252	Muscular hypotonia
OMIM:614643	POMK	84197	HP:0002007	Frontal bossing
OMIM:614643	POMK	84197	HP:0002084	Encephalocele
OMIM:614643	POMK	84197	HP:0001181	Adducted thumb
OMIM:614643	POMK	84197	HP:0000256	Macrocephaly
OMIM:614643	POMK	84197	HP:0001321	Cerebellar hypoplasia
OMIM:614643	POMK	84197	HP:0000238	Hydrocephalus
OMIM:614643	POMK	84197	HP:0002187	Intellectual disability, profound
OMIM:614643	POMK	84197	HP:0000278	Retrognathia
OMIM:614643	POMK	84197	HP:0002126	Polymicrogyria
OMIM:614643	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:614643	POMK	84197	HP:0000490	Deeply set eye
OMIM:614643	POMK	84197	HP:0000501	Glaucoma
OMIM:614643	POMK	84197	HP:0000518	Cataract
OMIM:614643	DAG1	1605	HP:0000609	Optic nerve hypoplasia
OMIM:614643	DAG1	1605	HP:0000369	Low-set ears
OMIM:614643	DAG1	1605	HP:0001284	Areflexia
OMIM:614643	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:614643	DAG1	1605	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	DAG1	1605	HP:0000541	Retinal detachment
OMIM:614643	DAG1	1605	HP:0001558	Decreased fetal movement
OMIM:614643	DAG1	1605	HP:0000659	Peters anomaly
OMIM:614643	DAG1	1605	HP:0000568	Microphthalmia
OMIM:614643	DAG1	1605	HP:0001305	Dandy-Walker malformation
OMIM:614643	DAG1	1605	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	DAG1	1605	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	DAG1	1605	HP:0008551	Microtia
OMIM:614643	DAG1	1605	HP:0001302	Pachygyria
OMIM:614643	DAG1	1605	HP:0007973	Retinal dysplasia
OMIM:614643	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:614643	DAG1	1605	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	DAG1	1605	HP:0001252	Muscular hypotonia
OMIM:614643	DAG1	1605	HP:0002007	Frontal bossing
OMIM:614643	DAG1	1605	HP:0002084	Encephalocele
OMIM:614643	DAG1	1605	HP:0001181	Adducted thumb
OMIM:614643	DAG1	1605	HP:0000256	Macrocephaly
OMIM:614643	DAG1	1605	HP:0001321	Cerebellar hypoplasia
OMIM:614643	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:614643	DAG1	1605	HP:0002187	Intellectual disability, profound
OMIM:614643	DAG1	1605	HP:0000278	Retrognathia
OMIM:614643	DAG1	1605	HP:0002126	Polymicrogyria
OMIM:614643	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:614643	DAG1	1605	HP:0000490	Deeply set eye
OMIM:614643	DAG1	1605	HP:0000501	Glaucoma
OMIM:614643	DAG1	1605	HP:0000518	Cataract
OMIM:614643	POMGNT1	55624	HP:0000609	Optic nerve hypoplasia
OMIM:614643	POMGNT1	55624	HP:0000369	Low-set ears
OMIM:614643	POMGNT1	55624	HP:0001284	Areflexia
OMIM:614643	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:614643	POMGNT1	55624	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	POMGNT1	55624	HP:0000541	Retinal detachment
OMIM:614643	POMGNT1	55624	HP:0001558	Decreased fetal movement
OMIM:614643	POMGNT1	55624	HP:0000659	Peters anomaly
OMIM:614643	POMGNT1	55624	HP:0000568	Microphthalmia
OMIM:614643	POMGNT1	55624	HP:0001305	Dandy-Walker malformation
OMIM:614643	POMGNT1	55624	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	POMGNT1	55624	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	POMGNT1	55624	HP:0008551	Microtia
OMIM:614643	POMGNT1	55624	HP:0001302	Pachygyria
OMIM:614643	POMGNT1	55624	HP:0007973	Retinal dysplasia
OMIM:614643	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:614643	POMGNT1	55624	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	POMGNT1	55624	HP:0001252	Muscular hypotonia
OMIM:614643	POMGNT1	55624	HP:0002007	Frontal bossing
OMIM:614643	POMGNT1	55624	HP:0002084	Encephalocele
OMIM:614643	POMGNT1	55624	HP:0001181	Adducted thumb
OMIM:614643	POMGNT1	55624	HP:0000256	Macrocephaly
OMIM:614643	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:614643	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:614643	POMGNT1	55624	HP:0002187	Intellectual disability, profound
OMIM:614643	POMGNT1	55624	HP:0000278	Retrognathia
OMIM:614643	POMGNT1	55624	HP:0002126	Polymicrogyria
OMIM:614643	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:614643	POMGNT1	55624	HP:0000490	Deeply set eye
OMIM:614643	POMGNT1	55624	HP:0000501	Glaucoma
OMIM:614643	POMGNT1	55624	HP:0000518	Cataract
OMIM:614643	FKTN	2218	HP:0000609	Optic nerve hypoplasia
OMIM:614643	FKTN	2218	HP:0000369	Low-set ears
OMIM:614643	FKTN	2218	HP:0001284	Areflexia
OMIM:614643	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:614643	FKTN	2218	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	FKTN	2218	HP:0000541	Retinal detachment
OMIM:614643	FKTN	2218	HP:0001558	Decreased fetal movement
OMIM:614643	FKTN	2218	HP:0000659	Peters anomaly
OMIM:614643	FKTN	2218	HP:0000568	Microphthalmia
OMIM:614643	FKTN	2218	HP:0001305	Dandy-Walker malformation
OMIM:614643	FKTN	2218	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	FKTN	2218	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	FKTN	2218	HP:0008551	Microtia
OMIM:614643	FKTN	2218	HP:0001302	Pachygyria
OMIM:614643	FKTN	2218	HP:0007973	Retinal dysplasia
OMIM:614643	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:614643	FKTN	2218	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	FKTN	2218	HP:0001252	Muscular hypotonia
OMIM:614643	FKTN	2218	HP:0002007	Frontal bossing
OMIM:614643	FKTN	2218	HP:0002084	Encephalocele
OMIM:614643	FKTN	2218	HP:0001181	Adducted thumb
OMIM:614643	FKTN	2218	HP:0000256	Macrocephaly
OMIM:614643	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:614643	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:614643	FKTN	2218	HP:0002187	Intellectual disability, profound
OMIM:614643	FKTN	2218	HP:0000278	Retrognathia
OMIM:614643	FKTN	2218	HP:0002126	Polymicrogyria
OMIM:614643	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:614643	FKTN	2218	HP:0000490	Deeply set eye
OMIM:614643	FKTN	2218	HP:0000501	Glaucoma
OMIM:614643	FKTN	2218	HP:0000518	Cataract
OMIM:614643	FKRP	79147	HP:0000609	Optic nerve hypoplasia
OMIM:614643	FKRP	79147	HP:0000369	Low-set ears
OMIM:614643	FKRP	79147	HP:0001284	Areflexia
OMIM:614643	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:614643	FKRP	79147	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	FKRP	79147	HP:0000541	Retinal detachment
OMIM:614643	FKRP	79147	HP:0001558	Decreased fetal movement
OMIM:614643	FKRP	79147	HP:0000659	Peters anomaly
OMIM:614643	FKRP	79147	HP:0000568	Microphthalmia
OMIM:614643	FKRP	79147	HP:0001305	Dandy-Walker malformation
OMIM:614643	FKRP	79147	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	FKRP	79147	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	FKRP	79147	HP:0008551	Microtia
OMIM:614643	FKRP	79147	HP:0001302	Pachygyria
OMIM:614643	FKRP	79147	HP:0007973	Retinal dysplasia
OMIM:614643	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:614643	FKRP	79147	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	FKRP	79147	HP:0001252	Muscular hypotonia
OMIM:614643	FKRP	79147	HP:0002007	Frontal bossing
OMIM:614643	FKRP	79147	HP:0002084	Encephalocele
OMIM:614643	FKRP	79147	HP:0001181	Adducted thumb
OMIM:614643	FKRP	79147	HP:0000256	Macrocephaly
OMIM:614643	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:614643	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:614643	FKRP	79147	HP:0002187	Intellectual disability, profound
OMIM:614643	FKRP	79147	HP:0000278	Retrognathia
OMIM:614643	FKRP	79147	HP:0002126	Polymicrogyria
OMIM:614643	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:614643	FKRP	79147	HP:0000490	Deeply set eye
OMIM:614643	FKRP	79147	HP:0000501	Glaucoma
OMIM:614643	FKRP	79147	HP:0000518	Cataract
OMIM:614643	ISPD	729920	HP:0000609	Optic nerve hypoplasia
OMIM:614643	ISPD	729920	HP:0000369	Low-set ears
OMIM:614643	ISPD	729920	HP:0001284	Areflexia
OMIM:614643	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:614643	ISPD	729920	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	ISPD	729920	HP:0000541	Retinal detachment
OMIM:614643	ISPD	729920	HP:0001558	Decreased fetal movement
OMIM:614643	ISPD	729920	HP:0000659	Peters anomaly
OMIM:614643	ISPD	729920	HP:0000568	Microphthalmia
OMIM:614643	ISPD	729920	HP:0001305	Dandy-Walker malformation
OMIM:614643	ISPD	729920	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	ISPD	729920	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	ISPD	729920	HP:0008551	Microtia
OMIM:614643	ISPD	729920	HP:0001302	Pachygyria
OMIM:614643	ISPD	729920	HP:0007973	Retinal dysplasia
OMIM:614643	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:614643	ISPD	729920	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	ISPD	729920	HP:0001252	Muscular hypotonia
OMIM:614643	ISPD	729920	HP:0002007	Frontal bossing
OMIM:614643	ISPD	729920	HP:0002084	Encephalocele
OMIM:614643	ISPD	729920	HP:0001181	Adducted thumb
OMIM:614643	ISPD	729920	HP:0000256	Macrocephaly
OMIM:614643	ISPD	729920	HP:0001321	Cerebellar hypoplasia
OMIM:614643	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:614643	ISPD	729920	HP:0002187	Intellectual disability, profound
OMIM:614643	ISPD	729920	HP:0000278	Retrognathia
OMIM:614643	ISPD	729920	HP:0002126	Polymicrogyria
OMIM:614643	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:614643	ISPD	729920	HP:0000490	Deeply set eye
OMIM:614643	ISPD	729920	HP:0000501	Glaucoma
OMIM:614643	ISPD	729920	HP:0000518	Cataract
OMIM:614643	B3GALNT2	148789	HP:0000609	Optic nerve hypoplasia
OMIM:614643	B3GALNT2	148789	HP:0000369	Low-set ears
OMIM:614643	B3GALNT2	148789	HP:0001284	Areflexia
OMIM:614643	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:614643	B3GALNT2	148789	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	B3GALNT2	148789	HP:0000541	Retinal detachment
OMIM:614643	B3GALNT2	148789	HP:0001558	Decreased fetal movement
OMIM:614643	B3GALNT2	148789	HP:0000659	Peters anomaly
OMIM:614643	B3GALNT2	148789	HP:0000568	Microphthalmia
OMIM:614643	B3GALNT2	148789	HP:0001305	Dandy-Walker malformation
OMIM:614643	B3GALNT2	148789	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	B3GALNT2	148789	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	B3GALNT2	148789	HP:0008551	Microtia
OMIM:614643	B3GALNT2	148789	HP:0001302	Pachygyria
OMIM:614643	B3GALNT2	148789	HP:0007973	Retinal dysplasia
OMIM:614643	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:614643	B3GALNT2	148789	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	B3GALNT2	148789	HP:0001252	Muscular hypotonia
OMIM:614643	B3GALNT2	148789	HP:0002007	Frontal bossing
OMIM:614643	B3GALNT2	148789	HP:0002084	Encephalocele
OMIM:614643	B3GALNT2	148789	HP:0001181	Adducted thumb
OMIM:614643	B3GALNT2	148789	HP:0000256	Macrocephaly
OMIM:614643	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:614643	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:614643	B3GALNT2	148789	HP:0002187	Intellectual disability, profound
OMIM:614643	B3GALNT2	148789	HP:0000278	Retrognathia
OMIM:614643	B3GALNT2	148789	HP:0002126	Polymicrogyria
OMIM:614643	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:614643	B3GALNT2	148789	HP:0000490	Deeply set eye
OMIM:614643	B3GALNT2	148789	HP:0000501	Glaucoma
OMIM:614643	B3GALNT2	148789	HP:0000518	Cataract
OMIM:614643	POMT1	10585	HP:0000609	Optic nerve hypoplasia
OMIM:614643	POMT1	10585	HP:0000369	Low-set ears
OMIM:614643	POMT1	10585	HP:0001284	Areflexia
OMIM:614643	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:614643	POMT1	10585	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	POMT1	10585	HP:0000541	Retinal detachment
OMIM:614643	POMT1	10585	HP:0001558	Decreased fetal movement
OMIM:614643	POMT1	10585	HP:0000659	Peters anomaly
OMIM:614643	POMT1	10585	HP:0000568	Microphthalmia
OMIM:614643	POMT1	10585	HP:0001305	Dandy-Walker malformation
OMIM:614643	POMT1	10585	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	POMT1	10585	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	POMT1	10585	HP:0008551	Microtia
OMIM:614643	POMT1	10585	HP:0001302	Pachygyria
OMIM:614643	POMT1	10585	HP:0007973	Retinal dysplasia
OMIM:614643	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:614643	POMT1	10585	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	POMT1	10585	HP:0001252	Muscular hypotonia
OMIM:614643	POMT1	10585	HP:0002007	Frontal bossing
OMIM:614643	POMT1	10585	HP:0002084	Encephalocele
OMIM:614643	POMT1	10585	HP:0001181	Adducted thumb
OMIM:614643	POMT1	10585	HP:0000256	Macrocephaly
OMIM:614643	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:614643	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:614643	POMT1	10585	HP:0002187	Intellectual disability, profound
OMIM:614643	POMT1	10585	HP:0000278	Retrognathia
OMIM:614643	POMT1	10585	HP:0002126	Polymicrogyria
OMIM:614643	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:614643	POMT1	10585	HP:0000490	Deeply set eye
OMIM:614643	POMT1	10585	HP:0000501	Glaucoma
OMIM:614643	POMT1	10585	HP:0000518	Cataract
OMIM:614643	TMEM5	10329	HP:0000609	Optic nerve hypoplasia
OMIM:614643	TMEM5	10329	HP:0000369	Low-set ears
OMIM:614643	TMEM5	10329	HP:0001284	Areflexia
OMIM:614643	TMEM5	10329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:614643	TMEM5	10329	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	TMEM5	10329	HP:0000541	Retinal detachment
OMIM:614643	TMEM5	10329	HP:0001558	Decreased fetal movement
OMIM:614643	TMEM5	10329	HP:0000659	Peters anomaly
OMIM:614643	TMEM5	10329	HP:0000568	Microphthalmia
OMIM:614643	TMEM5	10329	HP:0001305	Dandy-Walker malformation
OMIM:614643	TMEM5	10329	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	TMEM5	10329	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	TMEM5	10329	HP:0008551	Microtia
OMIM:614643	TMEM5	10329	HP:0001302	Pachygyria
OMIM:614643	TMEM5	10329	HP:0007973	Retinal dysplasia
OMIM:614643	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:614643	TMEM5	10329	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	TMEM5	10329	HP:0001252	Muscular hypotonia
OMIM:614643	TMEM5	10329	HP:0002007	Frontal bossing
OMIM:614643	TMEM5	10329	HP:0002084	Encephalocele
OMIM:614643	TMEM5	10329	HP:0001181	Adducted thumb
OMIM:614643	TMEM5	10329	HP:0000256	Macrocephaly
OMIM:614643	TMEM5	10329	HP:0001321	Cerebellar hypoplasia
OMIM:614643	TMEM5	10329	HP:0000238	Hydrocephalus
OMIM:614643	TMEM5	10329	HP:0002187	Intellectual disability, profound
OMIM:614643	TMEM5	10329	HP:0000278	Retrognathia
OMIM:614643	TMEM5	10329	HP:0002126	Polymicrogyria
OMIM:614643	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:614643	TMEM5	10329	HP:0000490	Deeply set eye
OMIM:614643	TMEM5	10329	HP:0000501	Glaucoma
OMIM:614643	TMEM5	10329	HP:0000518	Cataract
OMIM:614643	POMGNT2	84892	HP:0000609	Optic nerve hypoplasia
OMIM:614643	POMGNT2	84892	HP:0000369	Low-set ears
OMIM:614643	POMGNT2	84892	HP:0001284	Areflexia
OMIM:614643	POMGNT2	84892	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:614643	POMGNT2	84892	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	POMGNT2	84892	HP:0000541	Retinal detachment
OMIM:614643	POMGNT2	84892	HP:0001558	Decreased fetal movement
OMIM:614643	POMGNT2	84892	HP:0000659	Peters anomaly
OMIM:614643	POMGNT2	84892	HP:0000568	Microphthalmia
OMIM:614643	POMGNT2	84892	HP:0001305	Dandy-Walker malformation
OMIM:614643	POMGNT2	84892	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	POMGNT2	84892	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	POMGNT2	84892	HP:0008551	Microtia
OMIM:614643	POMGNT2	84892	HP:0001302	Pachygyria
OMIM:614643	POMGNT2	84892	HP:0007973	Retinal dysplasia
OMIM:614643	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:614643	POMGNT2	84892	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	POMGNT2	84892	HP:0001252	Muscular hypotonia
OMIM:614643	POMGNT2	84892	HP:0002007	Frontal bossing
OMIM:614643	POMGNT2	84892	HP:0002084	Encephalocele
OMIM:614643	POMGNT2	84892	HP:0001181	Adducted thumb
OMIM:614643	POMGNT2	84892	HP:0000256	Macrocephaly
OMIM:614643	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
OMIM:614643	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:614643	POMGNT2	84892	HP:0002187	Intellectual disability, profound
OMIM:614643	POMGNT2	84892	HP:0000278	Retrognathia
OMIM:614643	POMGNT2	84892	HP:0002126	Polymicrogyria
OMIM:614643	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:614643	POMGNT2	84892	HP:0000490	Deeply set eye
OMIM:614643	POMGNT2	84892	HP:0000501	Glaucoma
OMIM:614643	POMGNT2	84892	HP:0000518	Cataract
OMIM:614643	LARGE	9215	HP:0000609	Optic nerve hypoplasia
OMIM:614643	LARGE	9215	HP:0000369	Low-set ears
OMIM:614643	LARGE	9215	HP:0001284	Areflexia
OMIM:614643	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614643	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:614643	LARGE	9215	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:614643	LARGE	9215	HP:0000541	Retinal detachment
OMIM:614643	LARGE	9215	HP:0001558	Decreased fetal movement
OMIM:614643	LARGE	9215	HP:0000659	Peters anomaly
OMIM:614643	LARGE	9215	HP:0000568	Microphthalmia
OMIM:614643	LARGE	9215	HP:0001305	Dandy-Walker malformation
OMIM:614643	LARGE	9215	HP:0002365	Hypoplasia of the brainstem
OMIM:614643	LARGE	9215	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614643	LARGE	9215	HP:0008551	Microtia
OMIM:614643	LARGE	9215	HP:0001302	Pachygyria
OMIM:614643	LARGE	9215	HP:0007973	Retinal dysplasia
OMIM:614643	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:614643	LARGE	9215	HP:0001338	Partial agenesis of the corpus callosum
OMIM:614643	LARGE	9215	HP:0001252	Muscular hypotonia
OMIM:614643	LARGE	9215	HP:0002007	Frontal bossing
OMIM:614643	LARGE	9215	HP:0002084	Encephalocele
OMIM:614643	LARGE	9215	HP:0001181	Adducted thumb
OMIM:614643	LARGE	9215	HP:0000256	Macrocephaly
OMIM:614643	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:614643	LARGE	9215	HP:0000238	Hydrocephalus
OMIM:614643	LARGE	9215	HP:0002187	Intellectual disability, profound
OMIM:614643	LARGE	9215	HP:0000278	Retrognathia
OMIM:614643	LARGE	9215	HP:0002126	Polymicrogyria
OMIM:614643	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:614643	LARGE	9215	HP:0000490	Deeply set eye
OMIM:614643	LARGE	9215	HP:0000501	Glaucoma
OMIM:614643	LARGE	9215	HP:0000518	Cataract
OMIM:300355	ZNF711	7552	HP:0001256	Intellectual disability, mild
OMIM:300355	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300355	IL1RAPL1	11141	HP:0001256	Intellectual disability, mild
OMIM:300355	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300355	ACSL4	2182	HP:0001256	Intellectual disability, mild
OMIM:300355	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300355	PAK3	5063	HP:0001256	Intellectual disability, mild
OMIM:300355	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300355	SYP	6855	HP:0001256	Intellectual disability, mild
OMIM:300355	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300355	FTSJ1	24140	HP:0001256	Intellectual disability, mild
OMIM:300355	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300355	DLG3	1741	HP:0001256	Intellectual disability, mild
OMIM:300355	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300355	PTCHD1	139411	HP:0001256	Intellectual disability, mild
OMIM:300355	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300355	UPF3B	65109	HP:0001256	Intellectual disability, mild
OMIM:300355	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300355	ZNF81	347344	HP:0001256	Intellectual disability, mild
OMIM:300355	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300355	RAB39B	116442	HP:0001256	Intellectual disability, mild
OMIM:300355	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300355	DMD	1756	HP:0001256	Intellectual disability, mild
OMIM:300355	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300355	MAGT1	84061	HP:0001256	Intellectual disability, mild
OMIM:300355	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300355	MID2	11043	HP:0001256	Intellectual disability, mild
OMIM:300355	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300355	GDI1	2664	HP:0001256	Intellectual disability, mild
OMIM:300355	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300355	ZNF41	7592	HP:0001256	Intellectual disability, mild
OMIM:300355	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300355	MECP2	4204	HP:0001256	Intellectual disability, mild
OMIM:300355	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300355	HCFC1	3054	HP:0001256	Intellectual disability, mild
OMIM:300355	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300355	USP9X	8239	HP:0001256	Intellectual disability, mild
OMIM:300355	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300355	MED12	9968	HP:0001256	Intellectual disability, mild
OMIM:300355	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300355	ZNF674	641339	HP:0001256	Intellectual disability, mild
OMIM:300355	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300355	ARHGEF6	9459	HP:0001256	Intellectual disability, mild
OMIM:300355	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300355	RPS6KA3	6197	HP:0001256	Intellectual disability, mild
OMIM:300355	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300355	IQSEC2	23096	HP:0001256	Intellectual disability, mild
OMIM:300355	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300355	AGTR2	186	HP:0001256	Intellectual disability, mild
OMIM:300355	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300355	ARX	170302	HP:0001256	Intellectual disability, mild
OMIM:300355	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300355	ALG13	79868	HP:0001256	Intellectual disability, mild
OMIM:300355	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300355	TSPAN7	7102	HP:0001256	Intellectual disability, mild
OMIM:300355	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:300834	AIPL1	23746	HP:0000608	Macular degeneration
OMIM:300834	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:300834	AIPL1	23746	HP:0001419	X-linked recessive inheritance
OMIM:300834	PITPNM3	83394	HP:0000608	Macular degeneration
OMIM:300834	PITPNM3	83394	HP:0007663	Reduced visual acuity
OMIM:300834	PITPNM3	83394	HP:0001419	X-linked recessive inheritance
OMIM:300834	OPN1LW	5956	HP:0000608	Macular degeneration
OMIM:300834	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:300834	OPN1LW	5956	HP:0001419	X-linked recessive inheritance
OMIM:300834	UNC119	9094	HP:0000608	Macular degeneration
OMIM:300834	UNC119	9094	HP:0007663	Reduced visual acuity
OMIM:300834	UNC119	9094	HP:0001419	X-linked recessive inheritance
OMIM:300834	RPGRIP1	57096	HP:0000608	Macular degeneration
OMIM:300834	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:300834	RPGRIP1	57096	HP:0001419	X-linked recessive inheritance
OMIM:300834	PRPH2	5961	HP:0000608	Macular degeneration
OMIM:300834	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:300834	PRPH2	5961	HP:0001419	X-linked recessive inheritance
OMIM:300834	CACNA1F	778	HP:0000608	Macular degeneration
OMIM:300834	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:300834	CACNA1F	778	HP:0001419	X-linked recessive inheritance
OMIM:300834	PROM1	8842	HP:0000608	Macular degeneration
OMIM:300834	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:300834	PROM1	8842	HP:0001419	X-linked recessive inheritance
OMIM:300834	DRAM2	128338	HP:0000608	Macular degeneration
OMIM:300834	DRAM2	128338	HP:0007663	Reduced visual acuity
OMIM:300834	DRAM2	128338	HP:0001419	X-linked recessive inheritance
OMIM:300834	CACNA2D4	93589	HP:0000608	Macular degeneration
OMIM:300834	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:300834	CACNA2D4	93589	HP:0001419	X-linked recessive inheritance
OMIM:300834	RAB28	9364	HP:0000608	Macular degeneration
OMIM:300834	RAB28	9364	HP:0007663	Reduced visual acuity
OMIM:300834	RAB28	9364	HP:0001419	X-linked recessive inheritance
OMIM:300834	RPGR	6103	HP:0000608	Macular degeneration
OMIM:300834	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:300834	RPGR	6103	HP:0001419	X-linked recessive inheritance
OMIM:300834	RIMS1	22999	HP:0000608	Macular degeneration
OMIM:300834	RIMS1	22999	HP:0007663	Reduced visual acuity
OMIM:300834	RIMS1	22999	HP:0001419	X-linked recessive inheritance
OMIM:300834	ABCA4	24	HP:0000608	Macular degeneration
OMIM:300834	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:300834	ABCA4	24	HP:0001419	X-linked recessive inheritance
OMIM:300834	SEMA4A	64218	HP:0000608	Macular degeneration
OMIM:300834	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:300834	SEMA4A	64218	HP:0001419	X-linked recessive inheritance
OMIM:300834	C8ORF37	157657	HP:0000608	Macular degeneration
OMIM:300834	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:300834	C8ORF37	157657	HP:0001419	X-linked recessive inheritance
OMIM:300834	OPN1MW	2652	HP:0000608	Macular degeneration
OMIM:300834	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:300834	OPN1MW	2652	HP:0001419	X-linked recessive inheritance
OMIM:300834	GUCA1A	2978	HP:0000608	Macular degeneration
OMIM:300834	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:300834	GUCA1A	2978	HP:0001419	X-linked recessive inheritance
OMIM:300834	RAX2	84839	HP:0000608	Macular degeneration
OMIM:300834	RAX2	84839	HP:0007663	Reduced visual acuity
OMIM:300834	RAX2	84839	HP:0001419	X-linked recessive inheritance
OMIM:300834	CNGA3	1261	HP:0000608	Macular degeneration
OMIM:300834	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:300834	CNGA3	1261	HP:0001419	X-linked recessive inheritance
OMIM:300834	ADAM9	8754	HP:0000608	Macular degeneration
OMIM:300834	ADAM9	8754	HP:0007663	Reduced visual acuity
OMIM:300834	ADAM9	8754	HP:0001419	X-linked recessive inheritance
OMIM:300834	CDHR1	92211	HP:0000608	Macular degeneration
OMIM:300834	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:300834	CDHR1	92211	HP:0001419	X-linked recessive inheritance
OMIM:300834	TTLL5	23093	HP:0000608	Macular degeneration
OMIM:300834	TTLL5	23093	HP:0007663	Reduced visual acuity
OMIM:300834	TTLL5	23093	HP:0001419	X-linked recessive inheritance
OMIM:300834	GUCY2D	3000	HP:0000608	Macular degeneration
OMIM:300834	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:300834	GUCY2D	3000	HP:0001419	X-linked recessive inheritance
OMIM:300834	POC1B	282809	HP:0000608	Macular degeneration
OMIM:300834	POC1B	282809	HP:0007663	Reduced visual acuity
OMIM:300834	POC1B	282809	HP:0001419	X-linked recessive inheritance
OMIM:300834	CRX	1406	HP:0000608	Macular degeneration
OMIM:300834	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:300834	CRX	1406	HP:0001419	X-linked recessive inheritance
OMIM:612798	EDN1	1906	HP:0000006	Autosomal dominant inheritance
OMIM:612798	PLCB4	5332	HP:0000006	Autosomal dominant inheritance
OMIM:612798	GNAI3	2773	HP:0000006	Autosomal dominant inheritance
ORPHANET:1425	XYLT1	64131	HP:0000592	Blue sclerae
ORPHANET:1425	XYLT1	64131	HP:0002650	Scoliosis
ORPHANET:1425	XYLT1	64131	HP:0000499	Abnormality of the eyelashes
ORPHANET:1425	XYLT1	64131	HP:0011362	Abnormal hair quantity
ORPHANET:1425	XYLT1	64131	HP:0004322	Short stature
ORPHANET:1425	XYLT1	64131	HP:0100490	Camptodactyly of finger
ORPHANET:1425	XYLT1	64131	HP:0002816	Genu recurvatum
ORPHANET:1425	XYLT1	64131	HP:0001382	Joint hypermobility
ORPHANET:1425	XYLT1	64131	HP:0002974	Radioulnar synostosis
ORPHANET:1425	XYLT1	64131	HP:0005616	Accelerated skeletal maturation
ORPHANET:1425	XYLT1	64131	HP:0000501	Glaucoma
ORPHANET:1425	XYLT1	64131	HP:0100543	Cognitive impairment
ORPHANET:1425	XYLT1	64131	HP:0003042	Elbow dislocation
ORPHANET:1425	XYLT1	64131	HP:0000520	Proptosis
ORPHANET:1425	XYLT1	64131	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1425	XYLT1	64131	HP:0000463	Anteverted nares
ORPHANET:1425	XYLT1	64131	HP:0003272	Abnormality of the hip bone
ORPHANET:1425	XYLT1	64131	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1425	XYLT1	64131	HP:0005280	Depressed nasal bridge
ORPHANET:1425	XYLT1	64131	HP:0002823	Abnormality of the femur
ORPHANET:1425	XYLT1	64131	HP:0100625	Enlarged thorax
ORPHANET:1425	XYLT1	64131	HP:0004279	Short palm
ORPHANET:1425	XYLT1	64131	HP:0001629	Ventricular septal defect
ORPHANET:1425	XYLT1	64131	HP:0000470	Short neck
ORPHANET:1425	XYLT1	64131	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:1425	XYLT1	64131	HP:0002999	Patellar dislocation
ORPHANET:1425	XYLT1	64131	HP:0000944	Abnormality of the metaphyses
ORPHANET:1425	CANT1	124583	HP:0000592	Blue sclerae
ORPHANET:1425	CANT1	124583	HP:0002650	Scoliosis
ORPHANET:1425	CANT1	124583	HP:0000499	Abnormality of the eyelashes
ORPHANET:1425	CANT1	124583	HP:0011362	Abnormal hair quantity
ORPHANET:1425	CANT1	124583	HP:0004322	Short stature
ORPHANET:1425	CANT1	124583	HP:0100490	Camptodactyly of finger
ORPHANET:1425	CANT1	124583	HP:0002816	Genu recurvatum
ORPHANET:1425	CANT1	124583	HP:0001382	Joint hypermobility
ORPHANET:1425	CANT1	124583	HP:0002974	Radioulnar synostosis
ORPHANET:1425	CANT1	124583	HP:0005616	Accelerated skeletal maturation
ORPHANET:1425	CANT1	124583	HP:0000501	Glaucoma
ORPHANET:1425	CANT1	124583	HP:0100543	Cognitive impairment
ORPHANET:1425	CANT1	124583	HP:0003042	Elbow dislocation
ORPHANET:1425	CANT1	124583	HP:0000520	Proptosis
ORPHANET:1425	CANT1	124583	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1425	CANT1	124583	HP:0000463	Anteverted nares
ORPHANET:1425	CANT1	124583	HP:0003272	Abnormality of the hip bone
ORPHANET:1425	CANT1	124583	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1425	CANT1	124583	HP:0005280	Depressed nasal bridge
ORPHANET:1425	CANT1	124583	HP:0002823	Abnormality of the femur
ORPHANET:1425	CANT1	124583	HP:0100625	Enlarged thorax
ORPHANET:1425	CANT1	124583	HP:0004279	Short palm
ORPHANET:1425	CANT1	124583	HP:0001629	Ventricular septal defect
ORPHANET:1425	CANT1	124583	HP:0000470	Short neck
ORPHANET:1425	CANT1	124583	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:1425	CANT1	124583	HP:0002999	Patellar dislocation
ORPHANET:1425	CANT1	124583	HP:0000944	Abnormality of the metaphyses
OMIM:206920	SMOC1	64093	HP:0000358	Posteriorly rotated ears
OMIM:206920	SMOC1	64093	HP:0003312	Abnormal form of the vertebral bodies
OMIM:206920	SMOC1	64093	HP:0000581	Blepharophimosis
OMIM:206920	SMOC1	64093	HP:0000528	Anophthalmia
OMIM:206920	SMOC1	64093	HP:0001162	Postaxial hand polydactyly
OMIM:206920	SMOC1	64093	HP:0001595	Abnormality of the hair
OMIM:206920	SMOC1	64093	HP:0000954	Single transverse palmar crease
OMIM:206920	SMOC1	64093	HP:0001161	Hand polydactyly
OMIM:206920	SMOC1	64093	HP:0000494	Downslanted palpebral fissures
OMIM:206920	SMOC1	64093	HP:0001172	Abnormality of the thumb
OMIM:206920	SMOC1	64093	HP:0011220	Prominent forehead
OMIM:206920	SMOC1	64093	HP:0000028	Cryptorchidism
OMIM:206920	SMOC1	64093	HP:0001163	Abnormality of the metacarpal bones
OMIM:206920	SMOC1	64093	HP:0100543	Cognitive impairment
OMIM:206920	SMOC1	64093	HP:0000175	Cleft palate
OMIM:206920	SMOC1	64093	HP:0000204	Cleft upper lip
OMIM:206920	SMOC1	64093	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:206920	SMOC1	64093	HP:0002982	Tibial bowing
OMIM:206920	SMOC1	64093	HP:0002991	Abnormality of the fibula
OMIM:206920	SMOC1	64093	HP:0002827	Hip dislocation
OMIM:206920	SMOC1	64093	HP:0000347	Micrognathia
OMIM:206920	SMOC1	64093	HP:0001626	Abnormality of the cardiovascular system
OMIM:206920	SMOC1	64093	HP:0001852	Sandal gap
OMIM:206920	SMOC1	64093	HP:0000278	Retrognathia
OMIM:206920	SMOC1	64093	HP:0003196	Short nose
OMIM:206920	SMOC1	64093	HP:0000534	Abnormality of the eyebrow
OMIM:206920	SMOC1	64093	HP:0001883	Talipes
OMIM:206920	SMOC1	64093	HP:0001770	Toe syndactyly
OMIM:206920	SMOC1	64093	HP:0008897	Postnatal growth retardation
OMIM:206920	SMOC1	64093	HP:0004209	Clinodactyly of the 5th finger
OMIM:206920	SMOC1	64093	HP:0002007	Frontal bossing
OMIM:206920	SMOC1	64093	HP:0005293	Venous insufficiency
OMIM:206920	SMOC1	64093	HP:0000648	Optic atrophy
OMIM:206920	SMOC1	64093	HP:0005048	Synostosis of carpal bones
OMIM:206920	SMOC1	64093	HP:0001360	Holoprosencephaly
OMIM:206920	SMOC1	64093	HP:0002992	Abnormality of the tibia
OMIM:206920	SMOC1	64093	HP:0000218	High palate
OMIM:206920	SMOC1	64093	HP:0008368	Tarsal synostosis
OMIM:206920	SMOC1	64093	HP:0000568	Microphthalmia
OMIM:206920	SMOC1	64093	HP:0005280	Depressed nasal bridge
OMIM:206920	SMOC1	64093	HP:0006101	Finger syndactyly
OMIM:206920	SMOC1	64093	HP:0003038	Fibular hypoplasia
OMIM:206920	SMOC1	64093	HP:0001171	Split hand
OMIM:206920	SMOC1	64093	HP:0000272	Malar flattening
OMIM:206920	SMOC1	64093	HP:0004348	Abnormality of bone mineral density
OMIM:206920	SMOC1	64093	HP:0000238	Hydrocephalus
OMIM:206920	SMOC1	64093	HP:0000369	Low-set ears
OMIM:206920	SMOC1	64093	HP:0100542	Abnormal localization of kidney
OMIM:206920	SMOC1	64093	HP:0001762	Talipes equinovarus
OMIM:206920	SMOC1	64093	HP:0000007	Autosomal recessive inheritance
OMIM:206920	SMOC1	64093	HP:0012745	Short palpebral fissure
OMIM:206920	SMOC1	64093	HP:0001249	Intellectual disability
OMIM:610419	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:610419	MSRB3	253827	HP:0003593	Infantile onset
OMIM:610419	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:610419	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:610419	BSND	7809	HP:0003593	Infantile onset
OMIM:610419	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:610419	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:610419	ESPN	83715	HP:0003593	Infantile onset
OMIM:610419	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:610419	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:610419	DFNB31	25861	HP:0003593	Infantile onset
OMIM:610419	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:610419	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:610419	OTOA	146183	HP:0003593	Infantile onset
OMIM:610419	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:610419	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:610419	GJA1	2697	HP:0003593	Infantile onset
OMIM:610419	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:610419	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:610419	MET	4233	HP:0003593	Infantile onset
OMIM:610419	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:610419	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:610419	CLDN14	23562	HP:0003593	Infantile onset
OMIM:610419	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:610419	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:610419	HGF	3082	HP:0003593	Infantile onset
OMIM:610419	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:610419	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:610419	PNPT1	87178	HP:0003593	Infantile onset
OMIM:610419	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:610419	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:610419	EPS8	2059	HP:0003593	Infantile onset
OMIM:610419	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:610419	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:610419	MYO3A	53904	HP:0003593	Infantile onset
OMIM:610419	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:610419	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:610419	DCDC2	51473	HP:0003593	Infantile onset
OMIM:610419	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:610419	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:610419	GJB2	2706	HP:0003593	Infantile onset
OMIM:610419	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:610419	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:610419	GJB3	2707	HP:0003593	Infantile onset
OMIM:610419	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:610419	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:610419	CABP2	51475	HP:0003593	Infantile onset
OMIM:610419	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:610419	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:610419	GRXCR2	643226	HP:0003593	Infantile onset
OMIM:610419	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:610419	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:610419	SERPINB6	5269	HP:0003593	Infantile onset
OMIM:610419	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:610419	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:610419	COL11A2	1302	HP:0003593	Infantile onset
OMIM:610419	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:610419	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:610419	CIB2	10518	HP:0003593	Infantile onset
OMIM:610419	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:610419	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:610419	FAM65B	9750	HP:0003593	Infantile onset
OMIM:610419	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:610419	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:610419	KARS	3735	HP:0003593	Infantile onset
OMIM:610419	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:610419	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:610419	LOXHD1	125336	HP:0003593	Infantile onset
OMIM:610419	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:610419	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:610419	TMC1	117531	HP:0003593	Infantile onset
OMIM:610419	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:610419	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:610419	CLIC5	53405	HP:0003593	Infantile onset
OMIM:610419	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:610419	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:610419	OTOF	9381	HP:0003593	Infantile onset
OMIM:610419	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:610419	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:610419	MYO6	4646	HP:0003593	Infantile onset
OMIM:610419	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:610419	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:610419	TMIE	259236	HP:0003593	Infantile onset
OMIM:610419	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:610419	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:610419	MYO7A	4647	HP:0003593	Infantile onset
OMIM:610419	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:610419	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:610419	LRTOMT	220074	HP:0003593	Infantile onset
OMIM:610419	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:610419	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:610419	OTOGL	283310	HP:0003593	Infantile onset
OMIM:610419	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:610419	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:610419	TPRN	286262	HP:0003593	Infantile onset
OMIM:610419	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:610419	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:610419	SLC26A4	5172	HP:0003593	Infantile onset
OMIM:610419	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:610419	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:610419	GJB6	10804	HP:0003593	Infantile onset
OMIM:610419	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:610419	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:610419	DFNB59	494513	HP:0003593	Infantile onset
OMIM:610419	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:610419	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:610419	ESRRB	2103	HP:0003593	Infantile onset
OMIM:610419	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:610419	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:610419	TMPRSS3	64699	HP:0003593	Infantile onset
OMIM:610419	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:610419	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:610419	PTPRQ	374462	HP:0003593	Infantile onset
OMIM:610419	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:610419	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:610419	SLC26A5	375611	HP:0003593	Infantile onset
OMIM:610419	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:610419	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:610419	PCDH15	65217	HP:0003593	Infantile onset
OMIM:610419	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:610419	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:610419	TSPEAR	54084	HP:0003593	Infantile onset
OMIM:610419	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:610419	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:610419	LHFPL5	222662	HP:0003593	Infantile onset
OMIM:610419	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:610419	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:610419	TRIOBP	11078	HP:0003593	Infantile onset
OMIM:610419	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:610419	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:610419	CDH23	64072	HP:0003593	Infantile onset
OMIM:610419	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:610419	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:610419	RDX	5962	HP:0003593	Infantile onset
OMIM:610419	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:610419	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:610419	GPSM2	29899	HP:0003593	Infantile onset
OMIM:610419	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:610419	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:610419	ELMOD3	84173	HP:0003593	Infantile onset
OMIM:610419	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:610419	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:610419	ILDR1	286676	HP:0003593	Infantile onset
OMIM:610419	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:610419	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:610419	GRXCR1	389207	HP:0003593	Infantile onset
OMIM:610419	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:610419	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:610419	MARVELD2	153562	HP:0003593	Infantile onset
OMIM:610419	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:610419	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:610419	STRC	161497	HP:0003593	Infantile onset
OMIM:610419	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:610419	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:610419	SLITRK6	84189	HP:0003593	Infantile onset
OMIM:610419	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:610419	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:610419	TECTA	7007	HP:0003593	Infantile onset
OMIM:610419	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:610419	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:610419	MYO15A	51168	HP:0003593	Infantile onset
OMIM:610419	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:610419	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:610419	USH1C	10083	HP:0003593	Infantile onset
OMIM:610419	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:610419	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:610419	ADCY1	107	HP:0003593	Infantile onset
OMIM:610419	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:610419	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:610419	SYNE4	163183	HP:0003593	Infantile onset
OMIM:610419	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:610419	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:610419	GIPC3	126326	HP:0003593	Infantile onset
OMIM:610419	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:610419	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:610419	TBC1D24	57465	HP:0003593	Infantile onset
OMIM:610419	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:610419	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:610419	OTOG	340990	HP:0003593	Infantile onset
OMIM:610419	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:607482	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:607482	TPM1	7168	HP:0001706	Endocardial fibroelastosis
OMIM:607482	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:607482	TPM1	7168	HP:0006670	Impaired myocardial contractility
OMIM:607482	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:607482	CRYAB	1410	HP:0001706	Endocardial fibroelastosis
OMIM:607482	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:607482	CRYAB	1410	HP:0006670	Impaired myocardial contractility
OMIM:607482	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:607482	ACTC1	70	HP:0001706	Endocardial fibroelastosis
OMIM:607482	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:607482	ACTC1	70	HP:0006670	Impaired myocardial contractility
OMIM:607482	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:607482	RAF1	5894	HP:0001706	Endocardial fibroelastosis
OMIM:607482	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:607482	RAF1	5894	HP:0006670	Impaired myocardial contractility
OMIM:607482	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:607482	GATAD1	57798	HP:0001706	Endocardial fibroelastosis
OMIM:607482	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:607482	GATAD1	57798	HP:0006670	Impaired myocardial contractility
OMIM:607482	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:607482	LAMA4	3910	HP:0001706	Endocardial fibroelastosis
OMIM:607482	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:607482	LAMA4	3910	HP:0006670	Impaired myocardial contractility
OMIM:607482	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:607482	TMPO	7112	HP:0001706	Endocardial fibroelastosis
OMIM:607482	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:607482	TMPO	7112	HP:0006670	Impaired myocardial contractility
OMIM:607482	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:607482	DES	1674	HP:0001706	Endocardial fibroelastosis
OMIM:607482	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:607482	DES	1674	HP:0006670	Impaired myocardial contractility
OMIM:607482	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:607482	ABCC9	10060	HP:0001706	Endocardial fibroelastosis
OMIM:607482	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:607482	ABCC9	10060	HP:0006670	Impaired myocardial contractility
OMIM:607482	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:607482	MYH6	4624	HP:0001706	Endocardial fibroelastosis
OMIM:607482	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:607482	MYH6	4624	HP:0006670	Impaired myocardial contractility
OMIM:607482	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:607482	MYH7	4625	HP:0001706	Endocardial fibroelastosis
OMIM:607482	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:607482	MYH7	4625	HP:0006670	Impaired myocardial contractility
OMIM:607482	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:607482	LDB3	11155	HP:0001706	Endocardial fibroelastosis
OMIM:607482	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:607482	LDB3	11155	HP:0006670	Impaired myocardial contractility
OMIM:607482	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:607482	ACTN2	88	HP:0001706	Endocardial fibroelastosis
OMIM:607482	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:607482	ACTN2	88	HP:0006670	Impaired myocardial contractility
OMIM:607482	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:607482	TXNRD2	10587	HP:0001706	Endocardial fibroelastosis
OMIM:607482	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:607482	TXNRD2	10587	HP:0006670	Impaired myocardial contractility
OMIM:607482	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:607482	DMD	1756	HP:0001706	Endocardial fibroelastosis
OMIM:607482	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:607482	DMD	1756	HP:0006670	Impaired myocardial contractility
OMIM:607482	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:607482	TNNC1	7134	HP:0001706	Endocardial fibroelastosis
OMIM:607482	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:607482	TNNC1	7134	HP:0006670	Impaired myocardial contractility
OMIM:607482	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:607482	PSEN1	5663	HP:0001706	Endocardial fibroelastosis
OMIM:607482	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:607482	PSEN1	5663	HP:0006670	Impaired myocardial contractility
OMIM:607482	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:607482	PSEN2	5664	HP:0001706	Endocardial fibroelastosis
OMIM:607482	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:607482	PSEN2	5664	HP:0006670	Impaired myocardial contractility
OMIM:607482	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:607482	TNNI3	7137	HP:0001706	Endocardial fibroelastosis
OMIM:607482	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:607482	TNNI3	7137	HP:0006670	Impaired myocardial contractility
OMIM:607482	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:607482	FHL2	2274	HP:0001706	Endocardial fibroelastosis
OMIM:607482	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:607482	FHL2	2274	HP:0006670	Impaired myocardial contractility
OMIM:607482	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:607482	TNNT2	7139	HP:0001706	Endocardial fibroelastosis
OMIM:607482	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:607482	TNNT2	7139	HP:0006670	Impaired myocardial contractility
OMIM:607482	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:607482	DSG2	1829	HP:0001706	Endocardial fibroelastosis
OMIM:607482	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:607482	DSG2	1829	HP:0006670	Impaired myocardial contractility
OMIM:607482	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:607482	PLN	5350	HP:0001706	Endocardial fibroelastosis
OMIM:607482	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:607482	PLN	5350	HP:0006670	Impaired myocardial contractility
OMIM:607482	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:607482	PRDM16	63976	HP:0001706	Endocardial fibroelastosis
OMIM:607482	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:607482	PRDM16	63976	HP:0006670	Impaired myocardial contractility
OMIM:607482	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:607482	TTN	7273	HP:0001706	Endocardial fibroelastosis
OMIM:607482	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:607482	TTN	7273	HP:0006670	Impaired myocardial contractility
OMIM:607482	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:607482	NEXN	91624	HP:0001706	Endocardial fibroelastosis
OMIM:607482	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:607482	NEXN	91624	HP:0006670	Impaired myocardial contractility
OMIM:607482	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:607482	FKTN	2218	HP:0001706	Endocardial fibroelastosis
OMIM:607482	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:607482	FKTN	2218	HP:0006670	Impaired myocardial contractility
OMIM:607482	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:607482	SGCD	6444	HP:0001706	Endocardial fibroelastosis
OMIM:607482	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:607482	SGCD	6444	HP:0006670	Impaired myocardial contractility
OMIM:607482	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:607482	TCAP	8557	HP:0001706	Endocardial fibroelastosis
OMIM:607482	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:607482	TCAP	8557	HP:0006670	Impaired myocardial contractility
OMIM:607482	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:607482	CSRP3	8048	HP:0001706	Endocardial fibroelastosis
OMIM:607482	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:607482	CSRP3	8048	HP:0006670	Impaired myocardial contractility
OMIM:607482	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:607482	RBM20	282996	HP:0001706	Endocardial fibroelastosis
OMIM:607482	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:607482	RBM20	282996	HP:0006670	Impaired myocardial contractility
OMIM:607482	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:607482	SDHA	6389	HP:0001706	Endocardial fibroelastosis
OMIM:607482	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:607482	SDHA	6389	HP:0006670	Impaired myocardial contractility
OMIM:607482	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:607482	TAZ	6901	HP:0001706	Endocardial fibroelastosis
OMIM:607482	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:607482	TAZ	6901	HP:0006670	Impaired myocardial contractility
OMIM:607482	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:607482	VCL	7414	HP:0001706	Endocardial fibroelastosis
OMIM:607482	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:607482	VCL	7414	HP:0006670	Impaired myocardial contractility
OMIM:607482	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:607482	MYPN	84665	HP:0001706	Endocardial fibroelastosis
OMIM:607482	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:607482	MYPN	84665	HP:0006670	Impaired myocardial contractility
OMIM:607482	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:607482	SCN5A	6331	HP:0001706	Endocardial fibroelastosis
OMIM:607482	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:607482	SCN5A	6331	HP:0006670	Impaired myocardial contractility
OMIM:607482	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:607482	BAG3	9531	HP:0001706	Endocardial fibroelastosis
OMIM:607482	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:607482	BAG3	9531	HP:0006670	Impaired myocardial contractility
OMIM:607482	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:607482	DOLK	22845	HP:0001706	Endocardial fibroelastosis
OMIM:607482	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:607482	DOLK	22845	HP:0006670	Impaired myocardial contractility
OMIM:607482	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:607482	MYBPC3	4607	HP:0001706	Endocardial fibroelastosis
OMIM:607482	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:607482	MYBPC3	4607	HP:0006670	Impaired myocardial contractility
OMIM:254900	SCARB2	950	HP:0000100	Nephrotic syndrome
OMIM:254900	SCARB2	950	HP:0001336	Myoclonus
OMIM:254900	SCARB2	950	HP:0000083	Renal insufficiency
OMIM:254900	SCARB2	950	HP:0003678	Rapidly progressive
OMIM:254900	SCARB2	950	HP:0002015	Dysphagia
OMIM:254900	SCARB2	950	HP:0001873	Thrombocytopenia
OMIM:254900	SCARB2	950	HP:0001260	Dysarthria
OMIM:254900	SCARB2	950	HP:0000007	Autosomal recessive inheritance
OMIM:254900	SCARB2	950	HP:0000112	Nephropathy
OMIM:254900	SCARB2	950	HP:0000097	Focal segmental glomerulosclerosis
OMIM:254900	SCARB2	950	HP:0001272	Cerebellar atrophy
OMIM:254900	SCARB2	950	HP:0002066	Gait ataxia
OMIM:254900	SCARB2	950	HP:0000093	Proteinuria
OMIM:254900	SCARB2	950	HP:0002197	Generalized seizures
OMIM:609352	KRT5	3852	HP:0000988	Skin rash
OMIM:609352	KRT5	3852	HP:0001000	Abnormality of skin pigmentation
OMIM:613853	GDF1	2657	HP:0001669	Transposition of the great arteries
OMIM:613853	GDF1	2657	HP:0000006	Autosomal dominant inheritance
OMIM:613853	GDF1	2657	HP:0002021	Pyloric stenosis
OMIM:613853	GDF1	2657	HP:0001719	Double outlet right ventricle
OMIM:613853	CFC1	55997	HP:0001669	Transposition of the great arteries
OMIM:613853	CFC1	55997	HP:0000006	Autosomal dominant inheritance
OMIM:613853	CFC1	55997	HP:0002021	Pyloric stenosis
OMIM:613853	CFC1	55997	HP:0001719	Double outlet right ventricle
OMIM:613853	MED13L	23389	HP:0001669	Transposition of the great arteries
OMIM:613853	MED13L	23389	HP:0000006	Autosomal dominant inheritance
OMIM:613853	MED13L	23389	HP:0002021	Pyloric stenosis
OMIM:613853	MED13L	23389	HP:0001719	Double outlet right ventricle
OMIM:602066	PRRT2	112476	HP:0002072	Chorea
OMIM:602066	PRRT2	112476	HP:0002076	Migraine
OMIM:602066	PRRT2	112476	HP:0002197	Generalized seizures
OMIM:602066	PRRT2	112476	HP:0002353	EEG abnormality
OMIM:602066	PRRT2	112476	HP:0002311	Incoordination
OMIM:602066	PRRT2	112476	HP:0001250	Seizures
OMIM:602066	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:602066	PRRT2	112476	HP:0000733	Stereotypic behavior
OMIM:602066	PRRT2	112476	HP:0000739	Anxiety
OMIM:614493	WIPF1	7456	HP:0000007	Autosomal recessive inheritance
OMIM:614493	WIPF1	7456	HP:0005415	Decreased number of CD8+ T cells
OMIM:614493	WIPF1	7456	HP:0000964	Eczema
OMIM:614493	WIPF1	7456	HP:0001873	Thrombocytopenia
OMIM:614493	WIPF1	7456	HP:0002719	Recurrent infections
OMIM:614493	WAS	7454	HP:0000007	Autosomal recessive inheritance
OMIM:614493	WAS	7454	HP:0005415	Decreased number of CD8+ T cells
OMIM:614493	WAS	7454	HP:0000964	Eczema
OMIM:614493	WAS	7454	HP:0001873	Thrombocytopenia
OMIM:614493	WAS	7454	HP:0002719	Recurrent infections
OMIM:274400	SLC5A5	6528	HP:0001249	Intellectual disability
OMIM:274400	SLC5A5	6528	HP:0000007	Autosomal recessive inheritance
OMIM:274400	SLC5A5	6528	HP:0000853	Goiter
OMIM:274400	SLC5A5	6528	HP:0000158	Macroglossia
OMIM:274400	SLC5A5	6528	HP:0001537	Umbilical hernia
OMIM:274400	SLC5A5	6528	HP:0000821	Hypothyroidism
OMIM:274400	SLC5A5	6528	HP:0000958	Dry skin
OMIM:274400	SLC5A5	6528	HP:0001254	Lethargy
OMIM:274400	SLC5A5	6528	HP:0001510	Growth delay
OMIM:274400	SLC5A5	6528	HP:0002019	Constipation
OMIM:274400	TPO	7173	HP:0001249	Intellectual disability
OMIM:274400	TPO	7173	HP:0000007	Autosomal recessive inheritance
OMIM:274400	TPO	7173	HP:0000853	Goiter
OMIM:274400	TPO	7173	HP:0000158	Macroglossia
OMIM:274400	TPO	7173	HP:0001537	Umbilical hernia
OMIM:274400	TPO	7173	HP:0000821	Hypothyroidism
OMIM:274400	TPO	7173	HP:0000958	Dry skin
OMIM:274400	TPO	7173	HP:0001254	Lethargy
OMIM:274400	TPO	7173	HP:0001510	Growth delay
OMIM:274400	TPO	7173	HP:0002019	Constipation
OMIM:274400	DUOX2	50506	HP:0001249	Intellectual disability
OMIM:274400	DUOX2	50506	HP:0000007	Autosomal recessive inheritance
OMIM:274400	DUOX2	50506	HP:0000853	Goiter
OMIM:274400	DUOX2	50506	HP:0000158	Macroglossia
OMIM:274400	DUOX2	50506	HP:0001537	Umbilical hernia
OMIM:274400	DUOX2	50506	HP:0000821	Hypothyroidism
OMIM:274400	DUOX2	50506	HP:0000958	Dry skin
OMIM:274400	DUOX2	50506	HP:0001254	Lethargy
OMIM:274400	DUOX2	50506	HP:0001510	Growth delay
OMIM:274400	DUOX2	50506	HP:0002019	Constipation
OMIM:274400	TG	7038	HP:0001249	Intellectual disability
OMIM:274400	TG	7038	HP:0000007	Autosomal recessive inheritance
OMIM:274400	TG	7038	HP:0000853	Goiter
OMIM:274400	TG	7038	HP:0000158	Macroglossia
OMIM:274400	TG	7038	HP:0001537	Umbilical hernia
OMIM:274400	TG	7038	HP:0000821	Hypothyroidism
OMIM:274400	TG	7038	HP:0000958	Dry skin
OMIM:274400	TG	7038	HP:0001254	Lethargy
OMIM:274400	TG	7038	HP:0001510	Growth delay
OMIM:274400	TG	7038	HP:0002019	Constipation
OMIM:274400	DUOXA2	405753	HP:0001249	Intellectual disability
OMIM:274400	DUOXA2	405753	HP:0000007	Autosomal recessive inheritance
OMIM:274400	DUOXA2	405753	HP:0000853	Goiter
OMIM:274400	DUOXA2	405753	HP:0000158	Macroglossia
OMIM:274400	DUOXA2	405753	HP:0001537	Umbilical hernia
OMIM:274400	DUOXA2	405753	HP:0000821	Hypothyroidism
OMIM:274400	DUOXA2	405753	HP:0000958	Dry skin
OMIM:274400	DUOXA2	405753	HP:0001254	Lethargy
OMIM:274400	DUOXA2	405753	HP:0001510	Growth delay
OMIM:274400	DUOXA2	405753	HP:0002019	Constipation
OMIM:274400	IYD	389434	HP:0001249	Intellectual disability
OMIM:274400	IYD	389434	HP:0000007	Autosomal recessive inheritance
OMIM:274400	IYD	389434	HP:0000853	Goiter
OMIM:274400	IYD	389434	HP:0000158	Macroglossia
OMIM:274400	IYD	389434	HP:0001537	Umbilical hernia
OMIM:274400	IYD	389434	HP:0000821	Hypothyroidism
OMIM:274400	IYD	389434	HP:0000958	Dry skin
OMIM:274400	IYD	389434	HP:0001254	Lethargy
OMIM:274400	IYD	389434	HP:0001510	Growth delay
OMIM:274400	IYD	389434	HP:0002019	Constipation
OMIM:614098	KCNJ6	3763	HP:0005328	Progeroid facial appearance
OMIM:614098	KCNJ6	3763	HP:0001508	Failure to thrive
OMIM:614098	KCNJ6	3763	HP:0000347	Micrognathia
OMIM:614098	KCNJ6	3763	HP:0010864	Intellectual disability, severe
OMIM:614098	KCNJ6	3763	HP:0010804	Tented upper lip vermilion
OMIM:614098	KCNJ6	3763	HP:0001276	Hypertonia
OMIM:614098	KCNJ6	3763	HP:0000252	Microcephaly
OMIM:614098	KCNJ6	3763	HP:0001090	Large eyes
OMIM:614098	KCNJ6	3763	HP:0002373	Febrile seizures
OMIM:614098	KCNJ6	3763	HP:0000218	High palate
OMIM:614098	KCNJ6	3763	HP:0000194	Open mouth
OMIM:614098	KCNJ6	3763	HP:0000430	Underdeveloped nasal alae
OMIM:614098	KCNJ6	3763	HP:0000322	Short philtrum
OMIM:614098	KCNJ6	3763	HP:0001285	Spastic tetraparesis
OMIM:614098	KCNJ6	3763	HP:0001347	Hyperreflexia
OMIM:614098	KCNJ6	3763	HP:0001371	Flexion contracture
OMIM:614098	KCNJ6	3763	HP:0000520	Proptosis
OMIM:614098	KCNJ6	3763	HP:0002650	Scoliosis
OMIM:270685	BSCL2	26580	HP:0003677	Slow progression
OMIM:270685	BSCL2	26580	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:270685	BSCL2	26580	HP:0002064	Spastic gait
OMIM:270685	BSCL2	26580	HP:0001258	Spastic paraplegia
OMIM:270685	BSCL2	26580	HP:0003393	Thenar muscle atrophy
OMIM:270685	BSCL2	26580	HP:0002061	Lower limb spasticity
OMIM:270685	BSCL2	26580	HP:0003487	Babinski sign
OMIM:270685	BSCL2	26580	HP:0001761	Pes cavus
OMIM:270685	BSCL2	26580	HP:0001347	Hyperreflexia
OMIM:270685	BSCL2	26580	HP:0007340	Lower limb muscle weakness
OMIM:270685	BSCL2	26580	HP:0000006	Autosomal dominant inheritance
OMIM:612462	GNAS	2778	HP:0005280	Depressed nasal bridge
OMIM:612462	GNAS	2778	HP:0006960	Choroid plexus calcification
OMIM:612462	GNAS	2778	HP:0001250	Seizures
OMIM:612462	GNAS	2778	HP:0010049	Short metacarpal
OMIM:612462	GNAS	2778	HP:0000311	Round face
OMIM:612462	GNAS	2778	HP:0000639	Nystagmus
OMIM:612462	GNAS	2778	HP:0004322	Short stature
OMIM:612462	GNAS	2778	HP:0010743	Short metatarsal
OMIM:612462	GNAS	2778	HP:0000470	Short neck
OMIM:612462	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
OMIM:612462	GNAS	2778	HP:0000135	Hypogonadism
OMIM:612462	GNAS	2778	HP:0001249	Intellectual disability
OMIM:612462	GNAS	2778	HP:0000293	Full cheeks
OMIM:612462	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:612462	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:612462	GNAS	2778	HP:0000518	Cataract
OMIM:612462	GNAS	2778	HP:0001513	Obesity
OMIM:612462	GNAS	2778	HP:0000684	Delayed eruption of teeth
OMIM:612462	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:612462	GNAS	2778	HP:0100543	Cognitive impairment
OMIM:612462	GNAS	2778	HP:0002135	Basal ganglia calcification
OMIM:612462	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
OMIM:612462	GNAS	2778	HP:0002905	Hyperphosphatemia
OMIM:612462	GNAS	2778	HP:0003472	Hypocalcemic tetany
OMIM:612462	GNAS	2778	HP:0001156	Brachydactyly syndrome
OMIM:612462	GNAS	2778	HP:0000939	Osteoporosis
OMIM:612462	GNAS	2778	HP:0000821	Hypothyroidism
OMIM:603629	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:603629	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:603629	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:603629	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:603629	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:603629	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:603629	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:603629	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:603629	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:603629	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:603629	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:603629	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:603629	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:603629	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:603629	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:603629	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:603629	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:603629	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:603629	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:603629	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:603629	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:603629	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:603629	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:603629	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:603629	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:603629	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:603629	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:603629	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:603629	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:603629	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:603629	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:603629	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:603629	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:603629	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:603629	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:603629	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:603629	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:603629	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:603629	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:603629	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:603629	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:603629	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:603629	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:603629	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:603629	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:603629	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:603629	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:603629	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:603629	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:603629	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:603629	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:603629	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:603629	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:603629	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:603629	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:603629	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:603629	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:603629	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:603629	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:603629	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:603629	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:603629	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:603629	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:603629	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:603629	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:603629	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:603629	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:603629	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:603629	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:603629	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:603629	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:603629	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:603629	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:603629	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:603629	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:603629	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:603629	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:603629	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:603629	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:603629	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:603629	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:603629	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:603629	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:603629	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:603629	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:603629	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:603629	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:603629	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:603629	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:603629	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:603629	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:603629	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:603629	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:603629	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:603629	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:603629	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:603629	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:603629	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:603629	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:603629	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:603629	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:603629	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:603629	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:603629	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:603629	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:603629	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:603629	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:603629	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:603629	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:603629	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:603629	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:603629	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:603629	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:603629	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:603629	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:603629	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:603629	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:603629	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:603629	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:603629	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:615160	UQCRQ	27089	HP:0001943	Hypoglycemia
OMIM:615160	UQCRQ	27089	HP:0000007	Autosomal recessive inheritance
OMIM:615160	UQCRQ	27089	HP:0001942	Metabolic acidosis
OMIM:615160	UQCRQ	27089	HP:0001987	Hyperammonemia
OMIM:615160	UQCRQ	27089	HP:0002151	Increased serum lactate
OMIM:615160	UQCRQ	27089	HP:0003542	Increased serum pyruvate
OMIM:615160	CYC1	1537	HP:0001943	Hypoglycemia
OMIM:615160	CYC1	1537	HP:0000007	Autosomal recessive inheritance
OMIM:615160	CYC1	1537	HP:0001942	Metabolic acidosis
OMIM:615160	CYC1	1537	HP:0001987	Hyperammonemia
OMIM:615160	CYC1	1537	HP:0002151	Increased serum lactate
OMIM:615160	CYC1	1537	HP:0003542	Increased serum pyruvate
OMIM:615160	LYRM7	90624	HP:0001943	Hypoglycemia
OMIM:615160	LYRM7	90624	HP:0000007	Autosomal recessive inheritance
OMIM:615160	LYRM7	90624	HP:0001942	Metabolic acidosis
OMIM:615160	LYRM7	90624	HP:0001987	Hyperammonemia
OMIM:615160	LYRM7	90624	HP:0002151	Increased serum lactate
OMIM:615160	LYRM7	90624	HP:0003542	Increased serum pyruvate
OMIM:615160	UQCRB	7381	HP:0001943	Hypoglycemia
OMIM:615160	UQCRB	7381	HP:0000007	Autosomal recessive inheritance
OMIM:615160	UQCRB	7381	HP:0001942	Metabolic acidosis
OMIM:615160	UQCRB	7381	HP:0001987	Hyperammonemia
OMIM:615160	UQCRB	7381	HP:0002151	Increased serum lactate
OMIM:615160	UQCRB	7381	HP:0003542	Increased serum pyruvate
OMIM:615160	TTC19	54902	HP:0001943	Hypoglycemia
OMIM:615160	TTC19	54902	HP:0000007	Autosomal recessive inheritance
OMIM:615160	TTC19	54902	HP:0001942	Metabolic acidosis
OMIM:615160	TTC19	54902	HP:0001987	Hyperammonemia
OMIM:615160	TTC19	54902	HP:0002151	Increased serum lactate
OMIM:615160	TTC19	54902	HP:0003542	Increased serum pyruvate
OMIM:615160	CYTB	4519	HP:0001943	Hypoglycemia
OMIM:615160	CYTB	4519	HP:0000007	Autosomal recessive inheritance
OMIM:615160	CYTB	4519	HP:0001942	Metabolic acidosis
OMIM:615160	CYTB	4519	HP:0001987	Hyperammonemia
OMIM:615160	CYTB	4519	HP:0002151	Increased serum lactate
OMIM:615160	CYTB	4519	HP:0003542	Increased serum pyruvate
OMIM:615160	UQCC3	790955	HP:0001943	Hypoglycemia
OMIM:615160	UQCC3	790955	HP:0000007	Autosomal recessive inheritance
OMIM:615160	UQCC3	790955	HP:0001942	Metabolic acidosis
OMIM:615160	UQCC3	790955	HP:0001987	Hyperammonemia
OMIM:615160	UQCC3	790955	HP:0002151	Increased serum lactate
OMIM:615160	UQCC3	790955	HP:0003542	Increased serum pyruvate
OMIM:615160	UQCRC2	7385	HP:0001943	Hypoglycemia
OMIM:615160	UQCRC2	7385	HP:0000007	Autosomal recessive inheritance
OMIM:615160	UQCRC2	7385	HP:0001942	Metabolic acidosis
OMIM:615160	UQCRC2	7385	HP:0001987	Hyperammonemia
OMIM:615160	UQCRC2	7385	HP:0002151	Increased serum lactate
OMIM:615160	UQCRC2	7385	HP:0003542	Increased serum pyruvate
OMIM:615160	BCS1L	617	HP:0001943	Hypoglycemia
OMIM:615160	BCS1L	617	HP:0000007	Autosomal recessive inheritance
OMIM:615160	BCS1L	617	HP:0001942	Metabolic acidosis
OMIM:615160	BCS1L	617	HP:0001987	Hyperammonemia
OMIM:615160	BCS1L	617	HP:0002151	Increased serum lactate
OMIM:615160	BCS1L	617	HP:0003542	Increased serum pyruvate
OMIM:615160	UQCC2	84300	HP:0001943	Hypoglycemia
OMIM:615160	UQCC2	84300	HP:0000007	Autosomal recessive inheritance
OMIM:615160	UQCC2	84300	HP:0001942	Metabolic acidosis
OMIM:615160	UQCC2	84300	HP:0001987	Hyperammonemia
OMIM:615160	UQCC2	84300	HP:0002151	Increased serum lactate
OMIM:615160	UQCC2	84300	HP:0003542	Increased serum pyruvate
OMIM:269700	FOS	2353	HP:0001639	Hypertrophic cardiomyopathy
OMIM:269700	FOS	2353	HP:0000057	Clitoromegaly
OMIM:269700	FOS	2353	HP:0001394	Cirrhosis
OMIM:269700	FOS	2353	HP:0003577	Congenital onset
OMIM:269700	FOS	2353	HP:0001833	Long foot
OMIM:269700	FOS	2353	HP:0000303	Mandibular prognathia
OMIM:269700	FOS	2353	HP:0000007	Autosomal recessive inheritance
OMIM:269700	FOS	2353	HP:0000144	Decreased fertility
OMIM:269700	FOS	2353	HP:0000147	Polycystic ovaries
OMIM:269700	FOS	2353	HP:0001176	Large hands
OMIM:269700	FOS	2353	HP:0001537	Umbilical hernia
OMIM:269700	FOS	2353	HP:0005616	Accelerated skeletal maturation
OMIM:269700	FOS	2353	HP:0000956	Acanthosis nigricans
OMIM:269700	FOS	2353	HP:0000098	Tall stature
OMIM:269700	FOS	2353	HP:0001397	Hepatic steatosis
OMIM:269700	FOS	2353	HP:0001256	Intellectual disability, mild
OMIM:269700	FOS	2353	HP:0000842	Hyperinsulinemia
OMIM:269700	FOS	2353	HP:0001744	Splenomegaly
OMIM:269700	FOS	2353	HP:0009125	Lipodystrophy
OMIM:269700	FOS	2353	HP:0002155	Hypertriglyceridemia
OMIM:269700	FOS	2353	HP:0002240	Hepatomegaly
OMIM:269700	FOS	2353	HP:0001007	Hirsutism
OMIM:269700	BSCL2	26580	HP:0001639	Hypertrophic cardiomyopathy
OMIM:269700	BSCL2	26580	HP:0000057	Clitoromegaly
OMIM:269700	BSCL2	26580	HP:0001394	Cirrhosis
OMIM:269700	BSCL2	26580	HP:0003577	Congenital onset
OMIM:269700	BSCL2	26580	HP:0001833	Long foot
OMIM:269700	BSCL2	26580	HP:0000303	Mandibular prognathia
OMIM:269700	BSCL2	26580	HP:0000007	Autosomal recessive inheritance
OMIM:269700	BSCL2	26580	HP:0000144	Decreased fertility
OMIM:269700	BSCL2	26580	HP:0000147	Polycystic ovaries
OMIM:269700	BSCL2	26580	HP:0001176	Large hands
OMIM:269700	BSCL2	26580	HP:0001537	Umbilical hernia
OMIM:269700	BSCL2	26580	HP:0005616	Accelerated skeletal maturation
OMIM:269700	BSCL2	26580	HP:0000956	Acanthosis nigricans
OMIM:269700	BSCL2	26580	HP:0000098	Tall stature
OMIM:269700	BSCL2	26580	HP:0001397	Hepatic steatosis
OMIM:269700	BSCL2	26580	HP:0001256	Intellectual disability, mild
OMIM:269700	BSCL2	26580	HP:0000842	Hyperinsulinemia
OMIM:269700	BSCL2	26580	HP:0001744	Splenomegaly
OMIM:269700	BSCL2	26580	HP:0009125	Lipodystrophy
OMIM:269700	BSCL2	26580	HP:0002155	Hypertriglyceridemia
OMIM:269700	BSCL2	26580	HP:0002240	Hepatomegaly
OMIM:269700	BSCL2	26580	HP:0001007	Hirsutism
OMIM:269700	CAV1	857	HP:0001639	Hypertrophic cardiomyopathy
OMIM:269700	CAV1	857	HP:0000057	Clitoromegaly
OMIM:269700	CAV1	857	HP:0001394	Cirrhosis
OMIM:269700	CAV1	857	HP:0003577	Congenital onset
OMIM:269700	CAV1	857	HP:0001833	Long foot
OMIM:269700	CAV1	857	HP:0000303	Mandibular prognathia
OMIM:269700	CAV1	857	HP:0000007	Autosomal recessive inheritance
OMIM:269700	CAV1	857	HP:0000144	Decreased fertility
OMIM:269700	CAV1	857	HP:0000147	Polycystic ovaries
OMIM:269700	CAV1	857	HP:0001176	Large hands
OMIM:269700	CAV1	857	HP:0001537	Umbilical hernia
OMIM:269700	CAV1	857	HP:0005616	Accelerated skeletal maturation
OMIM:269700	CAV1	857	HP:0000956	Acanthosis nigricans
OMIM:269700	CAV1	857	HP:0000098	Tall stature
OMIM:269700	CAV1	857	HP:0001397	Hepatic steatosis
OMIM:269700	CAV1	857	HP:0001256	Intellectual disability, mild
OMIM:269700	CAV1	857	HP:0000842	Hyperinsulinemia
OMIM:269700	CAV1	857	HP:0001744	Splenomegaly
OMIM:269700	CAV1	857	HP:0009125	Lipodystrophy
OMIM:269700	CAV1	857	HP:0002155	Hypertriglyceridemia
OMIM:269700	CAV1	857	HP:0002240	Hepatomegaly
OMIM:269700	CAV1	857	HP:0001007	Hirsutism
OMIM:269700	AGPAT2	10555	HP:0001639	Hypertrophic cardiomyopathy
OMIM:269700	AGPAT2	10555	HP:0000057	Clitoromegaly
OMIM:269700	AGPAT2	10555	HP:0001394	Cirrhosis
OMIM:269700	AGPAT2	10555	HP:0003577	Congenital onset
OMIM:269700	AGPAT2	10555	HP:0001833	Long foot
OMIM:269700	AGPAT2	10555	HP:0000303	Mandibular prognathia
OMIM:269700	AGPAT2	10555	HP:0000007	Autosomal recessive inheritance
OMIM:269700	AGPAT2	10555	HP:0000144	Decreased fertility
OMIM:269700	AGPAT2	10555	HP:0000147	Polycystic ovaries
OMIM:269700	AGPAT2	10555	HP:0001176	Large hands
OMIM:269700	AGPAT2	10555	HP:0001537	Umbilical hernia
OMIM:269700	AGPAT2	10555	HP:0005616	Accelerated skeletal maturation
OMIM:269700	AGPAT2	10555	HP:0000956	Acanthosis nigricans
OMIM:269700	AGPAT2	10555	HP:0000098	Tall stature
OMIM:269700	AGPAT2	10555	HP:0001397	Hepatic steatosis
OMIM:269700	AGPAT2	10555	HP:0001256	Intellectual disability, mild
OMIM:269700	AGPAT2	10555	HP:0000842	Hyperinsulinemia
OMIM:269700	AGPAT2	10555	HP:0001744	Splenomegaly
OMIM:269700	AGPAT2	10555	HP:0009125	Lipodystrophy
OMIM:269700	AGPAT2	10555	HP:0002155	Hypertriglyceridemia
OMIM:269700	AGPAT2	10555	HP:0002240	Hepatomegaly
OMIM:269700	AGPAT2	10555	HP:0001007	Hirsutism
OMIM:269700	PPARG	5468	HP:0001639	Hypertrophic cardiomyopathy
OMIM:269700	PPARG	5468	HP:0000057	Clitoromegaly
OMIM:269700	PPARG	5468	HP:0001394	Cirrhosis
OMIM:269700	PPARG	5468	HP:0003577	Congenital onset
OMIM:269700	PPARG	5468	HP:0001833	Long foot
OMIM:269700	PPARG	5468	HP:0000303	Mandibular prognathia
OMIM:269700	PPARG	5468	HP:0000007	Autosomal recessive inheritance
OMIM:269700	PPARG	5468	HP:0000144	Decreased fertility
OMIM:269700	PPARG	5468	HP:0000147	Polycystic ovaries
OMIM:269700	PPARG	5468	HP:0001176	Large hands
OMIM:269700	PPARG	5468	HP:0001537	Umbilical hernia
OMIM:269700	PPARG	5468	HP:0005616	Accelerated skeletal maturation
OMIM:269700	PPARG	5468	HP:0000956	Acanthosis nigricans
OMIM:269700	PPARG	5468	HP:0000098	Tall stature
OMIM:269700	PPARG	5468	HP:0001397	Hepatic steatosis
OMIM:269700	PPARG	5468	HP:0001256	Intellectual disability, mild
OMIM:269700	PPARG	5468	HP:0000842	Hyperinsulinemia
OMIM:269700	PPARG	5468	HP:0001744	Splenomegaly
OMIM:269700	PPARG	5468	HP:0009125	Lipodystrophy
OMIM:269700	PPARG	5468	HP:0002155	Hypertriglyceridemia
OMIM:269700	PPARG	5468	HP:0002240	Hepatomegaly
OMIM:269700	PPARG	5468	HP:0001007	Hirsutism
OMIM:211180	EMG1	10436	HP:0001250	Seizures
OMIM:211180	EMG1	10436	HP:0000347	Micrognathia
OMIM:211180	EMG1	10436	HP:0000448	Prominent nose
OMIM:211180	EMG1	10436	HP:0000202	Oral cleft
OMIM:211180	EMG1	10436	HP:0004322	Short stature
OMIM:211180	EMG1	10436	HP:0005105	Abnormal nasal morphology
OMIM:211180	EMG1	10436	HP:0000028	Cryptorchidism
OMIM:211180	EMG1	10436	HP:0100490	Camptodactyly of finger
OMIM:211180	EMG1	10436	HP:0001376	Limitation of joint mobility
OMIM:211180	EMG1	10436	HP:0002101	Abnormal lung lobation
OMIM:211180	EMG1	10436	HP:0002119	Ventriculomegaly
OMIM:211180	EMG1	10436	HP:0100543	Cognitive impairment
OMIM:211180	EMG1	10436	HP:0000007	Autosomal recessive inheritance
OMIM:211180	EMG1	10436	HP:0001367	Abnormal joint morphology
OMIM:211180	EMG1	10436	HP:0001511	Intrauterine growth retardation
OMIM:211180	EMG1	10436	HP:0004209	Clinodactyly of the 5th finger
OMIM:211180	EMG1	10436	HP:0000252	Microcephaly
OMIM:211180	EMG1	10436	HP:0000340	Sloping forehead
OMIM:211180	EMG1	10436	HP:0001838	Rocker bottom foot
OMIM:211180	EMG1	10436	HP:0001883	Talipes
OMIM:211180	EMG1	10436	HP:0004097	Deviation of finger
OMIM:211180	EMG1	10436	HP:0001518	Small for gestational age
OMIM:103500	MITF	4286	HP:0008527	Congenital sensorineural hearing impairment
OMIM:103500	MITF	4286	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:103500	MITF	4286	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:103500	MITF	4286	HP:0007513	Generalized hypopigmentation
OMIM:103500	MITF	4286	HP:0000006	Autosomal dominant inheritance
OMIM:103500	MITF	4286	HP:0000593	Abnormality of the anterior chamber
OMIM:103500	MITF	4286	HP:0000635	Blue irides
OMIM:103500	MITF	4286	HP:0005599	Hypopigmentation of hair
OMIM:103500	MITF	4286	HP:0007894	Hypopigmentation of the fundus
OMIM:103500	MITF	4286	HP:0002227	White eyelashes
OMIM:103500	MITF	4286	HP:0002226	White eyebrow
OMIM:142330	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:142330	HNF1A	6927	HP:0000147	Polycystic ovaries
OMIM:177000	ALAS2	212	HP:0000964	Eczema
OMIM:177000	ALAS2	212	HP:0002155	Hypertriglyceridemia
OMIM:177000	ALAS2	212	HP:0001081	Cholelithiasis
OMIM:177000	ALAS2	212	HP:0000006	Autosomal dominant inheritance
OMIM:177000	ALAS2	212	HP:0001878	Hemolytic anemia
OMIM:177000	ALAS2	212	HP:0000969	Edema
OMIM:177000	ALAS2	212	HP:0011463	Childhood onset
OMIM:177000	ALAS2	212	HP:0000007	Autosomal recessive inheritance
OMIM:177000	ALAS2	212	HP:0001399	Hepatic failure
OMIM:177000	ALAS2	212	HP:0000989	Pruritus
OMIM:177000	FECH	2235	HP:0000964	Eczema
OMIM:177000	FECH	2235	HP:0002155	Hypertriglyceridemia
OMIM:177000	FECH	2235	HP:0001081	Cholelithiasis
OMIM:177000	FECH	2235	HP:0000006	Autosomal dominant inheritance
OMIM:177000	FECH	2235	HP:0001878	Hemolytic anemia
OMIM:177000	FECH	2235	HP:0000969	Edema
OMIM:177000	FECH	2235	HP:0011463	Childhood onset
OMIM:177000	FECH	2235	HP:0000007	Autosomal recessive inheritance
OMIM:177000	FECH	2235	HP:0001399	Hepatic failure
OMIM:177000	FECH	2235	HP:0000989	Pruritus
OMIM:614325	NRXN1	9378	HP:0000154	Wide mouth
OMIM:614325	NRXN1	9378	HP:0002020	Gastroesophageal reflux
OMIM:614325	NRXN1	9378	HP:0200134	Epileptic encephalopathy
OMIM:614325	NRXN1	9378	HP:0000007	Autosomal recessive inheritance
OMIM:614325	NRXN1	9378	HP:0001252	Muscular hypotonia
OMIM:614325	NRXN1	9378	HP:0010808	Protruding tongue
OMIM:614325	NRXN1	9378	HP:0002883	Hyperventilation
OMIM:614325	NRXN1	9378	HP:0010864	Intellectual disability, severe
OMIM:614325	NRXN1	9378	HP:0000486	Strabismus
OMIM:614325	NRXN1	9378	HP:0002019	Constipation
OMIM:614325	NRXN1	9378	HP:0011968	Feeding difficulties
OMIM:614325	NRXN1	9378	HP:0002650	Scoliosis
OMIM:614325	NRXN1	9378	HP:0001642	Pulmonic stenosis
OMIM:614325	NRXN1	9378	HP:0002307	Drooling
OMIM:614325	CNTNAP2	26047	HP:0000154	Wide mouth
OMIM:614325	CNTNAP2	26047	HP:0002020	Gastroesophageal reflux
OMIM:614325	CNTNAP2	26047	HP:0200134	Epileptic encephalopathy
OMIM:614325	CNTNAP2	26047	HP:0000007	Autosomal recessive inheritance
OMIM:614325	CNTNAP2	26047	HP:0001252	Muscular hypotonia
OMIM:614325	CNTNAP2	26047	HP:0010808	Protruding tongue
OMIM:614325	CNTNAP2	26047	HP:0002883	Hyperventilation
OMIM:614325	CNTNAP2	26047	HP:0010864	Intellectual disability, severe
OMIM:614325	CNTNAP2	26047	HP:0000486	Strabismus
OMIM:614325	CNTNAP2	26047	HP:0002019	Constipation
OMIM:614325	CNTNAP2	26047	HP:0011968	Feeding difficulties
OMIM:614325	CNTNAP2	26047	HP:0002650	Scoliosis
OMIM:614325	CNTNAP2	26047	HP:0001642	Pulmonic stenosis
OMIM:614325	CNTNAP2	26047	HP:0002307	Drooling
OMIM:253200	ARSB	411	HP:0000388	Otitis media
OMIM:253200	ARSB	411	HP:0000256	Macrocephaly
OMIM:253200	ARSB	411	HP:0000772	Abnormality of the ribs
OMIM:253200	ARSB	411	HP:0000007	Autosomal recessive inheritance
OMIM:253200	ARSB	411	HP:0001744	Splenomegaly
OMIM:253200	ARSB	411	HP:0100543	Cognitive impairment
OMIM:253200	ARSB	411	HP:0002808	Kyphosis
OMIM:253200	ARSB	411	HP:0003300	Ovoid vertebral bodies
OMIM:253200	ARSB	411	HP:0007759	Opacification of the corneal stroma
OMIM:253200	ARSB	411	HP:0001537	Umbilical hernia
OMIM:253200	ARSB	411	HP:0002240	Hepatomegaly
OMIM:253200	ARSB	411	HP:0000246	Sinusitis
OMIM:253200	ARSB	411	HP:0003521	Disproportionate short-trunk short stature
OMIM:253200	ARSB	411	HP:0000365	Hearing impairment
OMIM:253200	ARSB	411	HP:0005280	Depressed nasal bridge
OMIM:253200	ARSB	411	HP:0000943	Dysostosis multiplex
OMIM:253200	ARSB	411	HP:0000023	Inguinal hernia
OMIM:253200	ARSB	411	HP:0004322	Short stature
OMIM:253200	ARSB	411	HP:0000429	Abnormality of the nasal alae
OMIM:253200	ARSB	411	HP:0003311	Hypoplasia of the odontoid process
OMIM:253200	ARSB	411	HP:0001376	Limitation of joint mobility
OMIM:253200	ARSB	411	HP:0100790	Hernia
OMIM:253200	ARSB	411	HP:0001654	Abnormality of the heart valves
OMIM:253200	ARSB	411	HP:0000470	Short neck
OMIM:253200	ARSB	411	HP:0002869	Flared iliac wings
OMIM:253200	ARSB	411	HP:0000238	Hydrocephalus
OMIM:253200	ARSB	411	HP:0002857	Genu valgum
OMIM:253200	ARSB	411	HP:0001007	Hirsutism
OMIM:253200	ARSB	411	HP:0000280	Coarse facial features
OMIM:253200	ARSB	411	HP:0005930	Abnormality of epiphysis morphology
OMIM:253200	ARSB	411	HP:0008155	Mucopolysacchariduria
OMIM:253200	ARSB	411	HP:0001387	Joint stiffness
OMIM:253200	ARSB	411	HP:0003016	Metaphyseal widening
OMIM:253200	ARSB	411	HP:0002788	Recurrent upper respiratory tract infections
OMIM:253200	ARSB	411	HP:0003025	Metaphyseal irregularity
OMIM:253200	ARSB	411	HP:0002938	Lumbar hyperlordosis
OMIM:253200	ARSB	411	HP:0000268	Dolichocephaly
OMIM:253200	ARSB	411	HP:0000501	Glaucoma
OMIM:253200	ARSB	411	HP:0001638	Cardiomyopathy
OMIM:253200	ARSB	411	HP:0000158	Macroglossia
OMIM:253200	ARSB	411	HP:0000179	Thick lower lip vermilion
OMIM:253200	ARSB	411	HP:0000505	Visual impairment
OMIM:253200	ARSB	411	HP:0001171	Split hand
OMIM:253200	ARSB	411	HP:0001385	Hip dysplasia
OMIM:253200	ARSB	411	HP:0000157	Abnormality of the tongue
OMIM:123000	GJA1	2697	HP:0000256	Macrocephaly
OMIM:123000	GJA1	2697	HP:0003016	Metaphyseal widening
OMIM:123000	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:123000	GJA1	2697	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:123000	GJA1	2697	HP:0000925	Abnormality of the vertebral column
OMIM:123000	GJA1	2697	HP:0000692	Misalignment of teeth
OMIM:123000	GJA1	2697	HP:0000303	Mandibular prognathia
OMIM:123000	GJA1	2697	HP:0001739	Abnormality of the nasopharynx
OMIM:123000	GJA1	2697	HP:0000316	Hypertelorism
OMIM:123000	GJA1	2697	HP:0010628	Facial palsy
OMIM:123000	ANKH	56172	HP:0000256	Macrocephaly
OMIM:123000	ANKH	56172	HP:0003016	Metaphyseal widening
OMIM:123000	ANKH	56172	HP:0000006	Autosomal dominant inheritance
OMIM:123000	ANKH	56172	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:123000	ANKH	56172	HP:0000925	Abnormality of the vertebral column
OMIM:123000	ANKH	56172	HP:0000692	Misalignment of teeth
OMIM:123000	ANKH	56172	HP:0000303	Mandibular prognathia
OMIM:123000	ANKH	56172	HP:0001739	Abnormality of the nasopharynx
OMIM:123000	ANKH	56172	HP:0000316	Hypertelorism
OMIM:123000	ANKH	56172	HP:0010628	Facial palsy
OMIM:300424	RLBP1	6017	HP:0001419	X-linked recessive inheritance
OMIM:300424	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:300424	RLBP1	6017	HP:0000551	Abnormality of color vision
OMIM:300424	RLBP1	6017	HP:0007787	Posterior subcapsular cataract
OMIM:300424	SPATA7	55812	HP:0001419	X-linked recessive inheritance
OMIM:300424	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:300424	SPATA7	55812	HP:0000551	Abnormality of color vision
OMIM:300424	SPATA7	55812	HP:0007787	Posterior subcapsular cataract
OMIM:300424	ARL6	84100	HP:0001419	X-linked recessive inheritance
OMIM:300424	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:300424	ARL6	84100	HP:0000551	Abnormality of color vision
OMIM:300424	ARL6	84100	HP:0007787	Posterior subcapsular cataract
OMIM:300424	CERKL	375298	HP:0001419	X-linked recessive inheritance
OMIM:300424	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:300424	CERKL	375298	HP:0000551	Abnormality of color vision
OMIM:300424	CERKL	375298	HP:0007787	Posterior subcapsular cataract
OMIM:300424	PRPF31	26121	HP:0001419	X-linked recessive inheritance
OMIM:300424	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:300424	PRPF31	26121	HP:0000551	Abnormality of color vision
OMIM:300424	PRPF31	26121	HP:0007787	Posterior subcapsular cataract
OMIM:300424	TTC8	123016	HP:0001419	X-linked recessive inheritance
OMIM:300424	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:300424	TTC8	123016	HP:0000551	Abnormality of color vision
OMIM:300424	TTC8	123016	HP:0007787	Posterior subcapsular cataract
OMIM:300424	PROM1	8842	HP:0001419	X-linked recessive inheritance
OMIM:300424	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:300424	PROM1	8842	HP:0000551	Abnormality of color vision
OMIM:300424	PROM1	8842	HP:0007787	Posterior subcapsular cataract
OMIM:300424	LRAT	9227	HP:0001419	X-linked recessive inheritance
OMIM:300424	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:300424	LRAT	9227	HP:0000551	Abnormality of color vision
OMIM:300424	LRAT	9227	HP:0007787	Posterior subcapsular cataract
OMIM:300424	IFT140	9742	HP:0001419	X-linked recessive inheritance
OMIM:300424	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:300424	IFT140	9742	HP:0000551	Abnormality of color vision
OMIM:300424	IFT140	9742	HP:0007787	Posterior subcapsular cataract
OMIM:300424	BEST1	7439	HP:0001419	X-linked recessive inheritance
OMIM:300424	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:300424	BEST1	7439	HP:0000551	Abnormality of color vision
OMIM:300424	BEST1	7439	HP:0007787	Posterior subcapsular cataract
OMIM:300424	NEK2	4751	HP:0001419	X-linked recessive inheritance
OMIM:300424	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:300424	NEK2	4751	HP:0000551	Abnormality of color vision
OMIM:300424	NEK2	4751	HP:0007787	Posterior subcapsular cataract
OMIM:300424	ARL2BP	23568	HP:0001419	X-linked recessive inheritance
OMIM:300424	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:300424	ARL2BP	23568	HP:0000551	Abnormality of color vision
OMIM:300424	ARL2BP	23568	HP:0007787	Posterior subcapsular cataract
OMIM:300424	NR2E3	10002	HP:0001419	X-linked recessive inheritance
OMIM:300424	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:300424	NR2E3	10002	HP:0000551	Abnormality of color vision
OMIM:300424	NR2E3	10002	HP:0007787	Posterior subcapsular cataract
OMIM:300424	EYS	346007	HP:0001419	X-linked recessive inheritance
OMIM:300424	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:300424	EYS	346007	HP:0000551	Abnormality of color vision
OMIM:300424	EYS	346007	HP:0007787	Posterior subcapsular cataract
OMIM:300424	MAK	4117	HP:0001419	X-linked recessive inheritance
OMIM:300424	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:300424	MAK	4117	HP:0000551	Abnormality of color vision
OMIM:300424	MAK	4117	HP:0007787	Posterior subcapsular cataract
OMIM:300424	SAG	6295	HP:0001419	X-linked recessive inheritance
OMIM:300424	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:300424	SAG	6295	HP:0000551	Abnormality of color vision
OMIM:300424	SAG	6295	HP:0007787	Posterior subcapsular cataract
OMIM:300424	ABCA4	24	HP:0001419	X-linked recessive inheritance
OMIM:300424	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:300424	ABCA4	24	HP:0000551	Abnormality of color vision
OMIM:300424	ABCA4	24	HP:0007787	Posterior subcapsular cataract
OMIM:300424	PDE6A	5145	HP:0001419	X-linked recessive inheritance
OMIM:300424	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:300424	PDE6A	5145	HP:0000551	Abnormality of color vision
OMIM:300424	PDE6A	5145	HP:0007787	Posterior subcapsular cataract
OMIM:300424	PDE6G	5148	HP:0001419	X-linked recessive inheritance
OMIM:300424	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:300424	PDE6G	5148	HP:0000551	Abnormality of color vision
OMIM:300424	PDE6G	5148	HP:0007787	Posterior subcapsular cataract
OMIM:300424	IMPDH1	3614	HP:0001419	X-linked recessive inheritance
OMIM:300424	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:300424	IMPDH1	3614	HP:0000551	Abnormality of color vision
OMIM:300424	IMPDH1	3614	HP:0007787	Posterior subcapsular cataract
OMIM:300424	OFD1	8481	HP:0001419	X-linked recessive inheritance
OMIM:300424	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:300424	OFD1	8481	HP:0000551	Abnormality of color vision
OMIM:300424	OFD1	8481	HP:0007787	Posterior subcapsular cataract
OMIM:300424	GUCA1B	2979	HP:0001419	X-linked recessive inheritance
OMIM:300424	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:300424	GUCA1B	2979	HP:0000551	Abnormality of color vision
OMIM:300424	GUCA1B	2979	HP:0007787	Posterior subcapsular cataract
OMIM:300424	NRL	4901	HP:0001419	X-linked recessive inheritance
OMIM:300424	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:300424	NRL	4901	HP:0000551	Abnormality of color vision
OMIM:300424	NRL	4901	HP:0007787	Posterior subcapsular cataract
OMIM:300424	PDE6B	5158	HP:0001419	X-linked recessive inheritance
OMIM:300424	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:300424	PDE6B	5158	HP:0000551	Abnormality of color vision
OMIM:300424	PDE6B	5158	HP:0007787	Posterior subcapsular cataract
OMIM:300424	KLHL7	55975	HP:0001419	X-linked recessive inheritance
OMIM:300424	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:300424	KLHL7	55975	HP:0000551	Abnormality of color vision
OMIM:300424	KLHL7	55975	HP:0007787	Posterior subcapsular cataract
OMIM:300424	PRPF4	9128	HP:0001419	X-linked recessive inheritance
OMIM:300424	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:300424	PRPF4	9128	HP:0000551	Abnormality of color vision
OMIM:300424	PRPF4	9128	HP:0007787	Posterior subcapsular cataract
OMIM:300424	PRPF3	9129	HP:0001419	X-linked recessive inheritance
OMIM:300424	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:300424	PRPF3	9129	HP:0000551	Abnormality of color vision
OMIM:300424	PRPF3	9129	HP:0007787	Posterior subcapsular cataract
OMIM:300424	FAM161A	84140	HP:0001419	X-linked recessive inheritance
OMIM:300424	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:300424	FAM161A	84140	HP:0000551	Abnormality of color vision
OMIM:300424	FAM161A	84140	HP:0007787	Posterior subcapsular cataract
OMIM:300424	IFT172	26160	HP:0001419	X-linked recessive inheritance
OMIM:300424	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:300424	IFT172	26160	HP:0000551	Abnormality of color vision
OMIM:300424	IFT172	26160	HP:0007787	Posterior subcapsular cataract
OMIM:300424	KIZ	55857	HP:0001419	X-linked recessive inheritance
OMIM:300424	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:300424	KIZ	55857	HP:0000551	Abnormality of color vision
OMIM:300424	KIZ	55857	HP:0007787	Posterior subcapsular cataract
OMIM:300424	CDHR1	92211	HP:0001419	X-linked recessive inheritance
OMIM:300424	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:300424	CDHR1	92211	HP:0000551	Abnormality of color vision
OMIM:300424	CDHR1	92211	HP:0007787	Posterior subcapsular cataract
OMIM:300424	ZNF408	79797	HP:0001419	X-linked recessive inheritance
OMIM:300424	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:300424	ZNF408	79797	HP:0000551	Abnormality of color vision
OMIM:300424	ZNF408	79797	HP:0007787	Posterior subcapsular cataract
OMIM:300424	RBP3	5949	HP:0001419	X-linked recessive inheritance
OMIM:300424	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:300424	RBP3	5949	HP:0000551	Abnormality of color vision
OMIM:300424	RBP3	5949	HP:0007787	Posterior subcapsular cataract
OMIM:300424	HGSNAT	138050	HP:0001419	X-linked recessive inheritance
OMIM:300424	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:300424	HGSNAT	138050	HP:0000551	Abnormality of color vision
OMIM:300424	HGSNAT	138050	HP:0007787	Posterior subcapsular cataract
OMIM:300424	FSCN2	25794	HP:0001419	X-linked recessive inheritance
OMIM:300424	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:300424	FSCN2	25794	HP:0000551	Abnormality of color vision
OMIM:300424	FSCN2	25794	HP:0007787	Posterior subcapsular cataract
OMIM:300424	PRCD	768206	HP:0001419	X-linked recessive inheritance
OMIM:300424	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:300424	PRCD	768206	HP:0000551	Abnormality of color vision
OMIM:300424	PRCD	768206	HP:0007787	Posterior subcapsular cataract
OMIM:300424	BBS2	583	HP:0001419	X-linked recessive inheritance
OMIM:300424	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:300424	BBS2	583	HP:0000551	Abnormality of color vision
OMIM:300424	BBS2	583	HP:0007787	Posterior subcapsular cataract
OMIM:300424	RDH12	145226	HP:0001419	X-linked recessive inheritance
OMIM:300424	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:300424	RDH12	145226	HP:0000551	Abnormality of color vision
OMIM:300424	RDH12	145226	HP:0007787	Posterior subcapsular cataract
OMIM:300424	PRPH2	5961	HP:0001419	X-linked recessive inheritance
OMIM:300424	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:300424	PRPH2	5961	HP:0000551	Abnormality of color vision
OMIM:300424	PRPH2	5961	HP:0007787	Posterior subcapsular cataract
OMIM:300424	DHDDS	79947	HP:0001419	X-linked recessive inheritance
OMIM:300424	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:300424	DHDDS	79947	HP:0000551	Abnormality of color vision
OMIM:300424	DHDDS	79947	HP:0007787	Posterior subcapsular cataract
OMIM:300424	ROM1	6094	HP:0001419	X-linked recessive inheritance
OMIM:300424	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:300424	ROM1	6094	HP:0000551	Abnormality of color vision
OMIM:300424	ROM1	6094	HP:0007787	Posterior subcapsular cataract
OMIM:300424	C2ORF71	388939	HP:0001419	X-linked recessive inheritance
OMIM:300424	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:300424	C2ORF71	388939	HP:0000551	Abnormality of color vision
OMIM:300424	C2ORF71	388939	HP:0007787	Posterior subcapsular cataract
OMIM:300424	RP9	6100	HP:0001419	X-linked recessive inheritance
OMIM:300424	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:300424	RP9	6100	HP:0000551	Abnormality of color vision
OMIM:300424	RP9	6100	HP:0007787	Posterior subcapsular cataract
OMIM:300424	PRPF6	24148	HP:0001419	X-linked recessive inheritance
OMIM:300424	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:300424	PRPF6	24148	HP:0000551	Abnormality of color vision
OMIM:300424	PRPF6	24148	HP:0007787	Posterior subcapsular cataract
OMIM:300424	RP1	6101	HP:0001419	X-linked recessive inheritance
OMIM:300424	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:300424	RP1	6101	HP:0000551	Abnormality of color vision
OMIM:300424	RP1	6101	HP:0007787	Posterior subcapsular cataract
OMIM:300424	RP2	6102	HP:0001419	X-linked recessive inheritance
OMIM:300424	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:300424	RP2	6102	HP:0000551	Abnormality of color vision
OMIM:300424	RP2	6102	HP:0007787	Posterior subcapsular cataract
OMIM:300424	RPGR	6103	HP:0001419	X-linked recessive inheritance
OMIM:300424	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:300424	RPGR	6103	HP:0000551	Abnormality of color vision
OMIM:300424	RPGR	6103	HP:0007787	Posterior subcapsular cataract
OMIM:300424	SEMA4A	64218	HP:0001419	X-linked recessive inheritance
OMIM:300424	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:300424	SEMA4A	64218	HP:0000551	Abnormality of color vision
OMIM:300424	SEMA4A	64218	HP:0007787	Posterior subcapsular cataract
OMIM:300424	C8ORF37	157657	HP:0001419	X-linked recessive inheritance
OMIM:300424	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:300424	C8ORF37	157657	HP:0000551	Abnormality of color vision
OMIM:300424	C8ORF37	157657	HP:0007787	Posterior subcapsular cataract
OMIM:300424	IDH3B	3420	HP:0001419	X-linked recessive inheritance
OMIM:300424	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:300424	IDH3B	3420	HP:0000551	Abnormality of color vision
OMIM:300424	IDH3B	3420	HP:0007787	Posterior subcapsular cataract
OMIM:300424	MERTK	10461	HP:0001419	X-linked recessive inheritance
OMIM:300424	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:300424	MERTK	10461	HP:0000551	Abnormality of color vision
OMIM:300424	MERTK	10461	HP:0007787	Posterior subcapsular cataract
OMIM:300424	PRPF8	10594	HP:0001419	X-linked recessive inheritance
OMIM:300424	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:300424	PRPF8	10594	HP:0000551	Abnormality of color vision
OMIM:300424	PRPF8	10594	HP:0007787	Posterior subcapsular cataract
OMIM:300424	TOPORS	10210	HP:0001419	X-linked recessive inheritance
OMIM:300424	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:300424	TOPORS	10210	HP:0000551	Abnormality of color vision
OMIM:300424	TOPORS	10210	HP:0007787	Posterior subcapsular cataract
OMIM:300424	USH2A	7399	HP:0001419	X-linked recessive inheritance
OMIM:300424	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:300424	USH2A	7399	HP:0000551	Abnormality of color vision
OMIM:300424	USH2A	7399	HP:0007787	Posterior subcapsular cataract
OMIM:300424	RPE65	6121	HP:0001419	X-linked recessive inheritance
OMIM:300424	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:300424	RPE65	6121	HP:0000551	Abnormality of color vision
OMIM:300424	RPE65	6121	HP:0007787	Posterior subcapsular cataract
OMIM:300424	CLRN1	7401	HP:0001419	X-linked recessive inheritance
OMIM:300424	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:300424	CLRN1	7401	HP:0000551	Abnormality of color vision
OMIM:300424	CLRN1	7401	HP:0007787	Posterior subcapsular cataract
OMIM:300424	CNGB1	1258	HP:0001419	X-linked recessive inheritance
OMIM:300424	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:300424	CNGB1	1258	HP:0000551	Abnormality of color vision
OMIM:300424	CNGB1	1258	HP:0007787	Posterior subcapsular cataract
OMIM:300424	RGR	5995	HP:0001419	X-linked recessive inheritance
OMIM:300424	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:300424	RGR	5995	HP:0000551	Abnormality of color vision
OMIM:300424	RGR	5995	HP:0007787	Posterior subcapsular cataract
OMIM:300424	CNGA1	1259	HP:0001419	X-linked recessive inheritance
OMIM:300424	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:300424	CNGA1	1259	HP:0000551	Abnormality of color vision
OMIM:300424	CNGA1	1259	HP:0007787	Posterior subcapsular cataract
OMIM:300424	TUB	7275	HP:0001419	X-linked recessive inheritance
OMIM:300424	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:300424	TUB	7275	HP:0000551	Abnormality of color vision
OMIM:300424	TUB	7275	HP:0007787	Posterior subcapsular cataract
OMIM:300424	SNRNP200	23020	HP:0001419	X-linked recessive inheritance
OMIM:300424	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:300424	SNRNP200	23020	HP:0000551	Abnormality of color vision
OMIM:300424	SNRNP200	23020	HP:0007787	Posterior subcapsular cataract
OMIM:300424	SLC7A14	57709	HP:0001419	X-linked recessive inheritance
OMIM:300424	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:300424	SLC7A14	57709	HP:0000551	Abnormality of color vision
OMIM:300424	SLC7A14	57709	HP:0007787	Posterior subcapsular cataract
OMIM:300424	TULP1	7287	HP:0001419	X-linked recessive inheritance
OMIM:300424	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:300424	TULP1	7287	HP:0000551	Abnormality of color vision
OMIM:300424	TULP1	7287	HP:0007787	Posterior subcapsular cataract
OMIM:300424	RHO	6010	HP:0001419	X-linked recessive inheritance
OMIM:300424	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:300424	RHO	6010	HP:0000551	Abnormality of color vision
OMIM:300424	RHO	6010	HP:0007787	Posterior subcapsular cataract
OMIM:300424	CA4	762	HP:0001419	X-linked recessive inheritance
OMIM:300424	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:300424	CA4	762	HP:0000551	Abnormality of color vision
OMIM:300424	CA4	762	HP:0007787	Posterior subcapsular cataract
OMIM:300424	CRB1	23418	HP:0001419	X-linked recessive inheritance
OMIM:300424	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:300424	CRB1	23418	HP:0000551	Abnormality of color vision
OMIM:300424	CRB1	23418	HP:0007787	Posterior subcapsular cataract
OMIM:300424	IMPG2	50939	HP:0001419	X-linked recessive inheritance
OMIM:300424	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:300424	IMPG2	50939	HP:0000551	Abnormality of color vision
OMIM:300424	IMPG2	50939	HP:0007787	Posterior subcapsular cataract
OMIM:300424	ZNF513	130557	HP:0001419	X-linked recessive inheritance
OMIM:300424	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:300424	ZNF513	130557	HP:0000551	Abnormality of color vision
OMIM:300424	ZNF513	130557	HP:0007787	Posterior subcapsular cataract
OMIM:300424	CRX	1406	HP:0001419	X-linked recessive inheritance
OMIM:300424	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:300424	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:300424	CRX	1406	HP:0007787	Posterior subcapsular cataract
ORPHANET:90653	COL2A1	1280	HP:0004327	Abnormality of the vitreous humor
ORPHANET:90653	COL2A1	1280	HP:0000343	Long philtrum
ORPHANET:90653	COL2A1	1280	HP:0001382	Joint hypermobility
ORPHANET:90653	COL2A1	1280	HP:0001633	Abnormality of the mitral valve
ORPHANET:90653	COL2A1	1280	HP:0100543	Cognitive impairment
ORPHANET:90653	COL2A1	1280	HP:0000175	Cleft palate
ORPHANET:90653	COL2A1	1280	HP:0003196	Short nose
ORPHANET:90653	COL2A1	1280	HP:0002758	Osteoarthritis
ORPHANET:90653	COL2A1	1280	HP:0000505	Visual impairment
ORPHANET:90653	COL2A1	1280	HP:0002829	Arthralgia
ORPHANET:90653	COL2A1	1280	HP:0000407	Sensorineural hearing impairment
ORPHANET:90653	COL2A1	1280	HP:0002652	Skeletal dysplasia
ORPHANET:90653	COL2A1	1280	HP:0000545	Myopia
ORPHANET:90653	COL2A1	1280	HP:0000541	Retinal detachment
ORPHANET:90653	COL2A1	1280	HP:0000518	Cataract
ORPHANET:90653	COL2A1	1280	HP:0000926	Platyspondyly
ORPHANET:90653	COL2A1	1280	HP:0000520	Proptosis
OMIM:613291	SLC10A2	6555	HP:0001508	Failure to thrive
OMIM:613291	SLC10A2	6555	HP:0002028	Chronic diarrhea
OMIM:613291	SLC10A2	6555	HP:0002630	Fat malabsorption
OMIM:613291	SLC10A2	6555	HP:0003593	Infantile onset
OMIM:613291	SLC10A2	6555	HP:0002570	Steatorrhea
OMIM:613291	SLC10A2	6555	HP:0001510	Growth delay
OMIM:613291	SLC10A2	6555	HP:0003828	Variable expressivity
OMIM:613291	SLC10A2	6555	HP:0000007	Autosomal recessive inheritance
OMIM:614324	NR5A1	2516	HP:0000786	Primary amenorrhea
OMIM:614324	NR5A1	2516	HP:0000007	Autosomal recessive inheritance
OMIM:614324	PSMC3IP	29893	HP:0000786	Primary amenorrhea
OMIM:614324	PSMC3IP	29893	HP:0000007	Autosomal recessive inheritance
OMIM:614324	BMP15	9210	HP:0000786	Primary amenorrhea
OMIM:614324	BMP15	9210	HP:0000007	Autosomal recessive inheritance
OMIM:614324	FSHR	2492	HP:0000786	Primary amenorrhea
OMIM:614324	FSHR	2492	HP:0000007	Autosomal recessive inheritance
OMIM:616353	PARN	5073	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	PARN	5073	HP:0000670	Carious teeth
OMIM:616353	PARN	5073	HP:0008404	Nail dystrophy
OMIM:616353	PARN	5073	HP:0001251	Ataxia
OMIM:616353	PARN	5073	HP:0008070	Sparse hair
OMIM:616353	PARN	5073	HP:0001263	Global developmental delay
OMIM:616353	PARN	5073	HP:0001596	Alopecia
OMIM:616353	PARN	5073	HP:0001321	Cerebellar hypoplasia
OMIM:616353	PARN	5073	HP:0001508	Failure to thrive
OMIM:616353	PARN	5073	HP:0000252	Microcephaly
OMIM:616353	PARN	5073	HP:0001511	Intrauterine growth retardation
OMIM:616353	ACD	65057	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	ACD	65057	HP:0000670	Carious teeth
OMIM:616353	ACD	65057	HP:0008404	Nail dystrophy
OMIM:616353	ACD	65057	HP:0001251	Ataxia
OMIM:616353	ACD	65057	HP:0008070	Sparse hair
OMIM:616353	ACD	65057	HP:0001263	Global developmental delay
OMIM:616353	ACD	65057	HP:0001596	Alopecia
OMIM:616353	ACD	65057	HP:0001321	Cerebellar hypoplasia
OMIM:616353	ACD	65057	HP:0001508	Failure to thrive
OMIM:616353	ACD	65057	HP:0000252	Microcephaly
OMIM:616353	ACD	65057	HP:0001511	Intrauterine growth retardation
OMIM:616353	NOP10	55505	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	NOP10	55505	HP:0000670	Carious teeth
OMIM:616353	NOP10	55505	HP:0008404	Nail dystrophy
OMIM:616353	NOP10	55505	HP:0001251	Ataxia
OMIM:616353	NOP10	55505	HP:0008070	Sparse hair
OMIM:616353	NOP10	55505	HP:0001263	Global developmental delay
OMIM:616353	NOP10	55505	HP:0001596	Alopecia
OMIM:616353	NOP10	55505	HP:0001321	Cerebellar hypoplasia
OMIM:616353	NOP10	55505	HP:0001508	Failure to thrive
OMIM:616353	NOP10	55505	HP:0000252	Microcephaly
OMIM:616353	NOP10	55505	HP:0001511	Intrauterine growth retardation
OMIM:616353	NHP2	55651	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	NHP2	55651	HP:0000670	Carious teeth
OMIM:616353	NHP2	55651	HP:0008404	Nail dystrophy
OMIM:616353	NHP2	55651	HP:0001251	Ataxia
OMIM:616353	NHP2	55651	HP:0008070	Sparse hair
OMIM:616353	NHP2	55651	HP:0001263	Global developmental delay
OMIM:616353	NHP2	55651	HP:0001596	Alopecia
OMIM:616353	NHP2	55651	HP:0001321	Cerebellar hypoplasia
OMIM:616353	NHP2	55651	HP:0001508	Failure to thrive
OMIM:616353	NHP2	55651	HP:0000252	Microcephaly
OMIM:616353	NHP2	55651	HP:0001511	Intrauterine growth retardation
OMIM:616353	USB1	79650	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	USB1	79650	HP:0000670	Carious teeth
OMIM:616353	USB1	79650	HP:0008404	Nail dystrophy
OMIM:616353	USB1	79650	HP:0001251	Ataxia
OMIM:616353	USB1	79650	HP:0008070	Sparse hair
OMIM:616353	USB1	79650	HP:0001263	Global developmental delay
OMIM:616353	USB1	79650	HP:0001596	Alopecia
OMIM:616353	USB1	79650	HP:0001321	Cerebellar hypoplasia
OMIM:616353	USB1	79650	HP:0001508	Failure to thrive
OMIM:616353	USB1	79650	HP:0000252	Microcephaly
OMIM:616353	USB1	79650	HP:0001511	Intrauterine growth retardation
OMIM:616353	TERC	7012	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	TERC	7012	HP:0000670	Carious teeth
OMIM:616353	TERC	7012	HP:0008404	Nail dystrophy
OMIM:616353	TERC	7012	HP:0001251	Ataxia
OMIM:616353	TERC	7012	HP:0008070	Sparse hair
OMIM:616353	TERC	7012	HP:0001263	Global developmental delay
OMIM:616353	TERC	7012	HP:0001596	Alopecia
OMIM:616353	TERC	7012	HP:0001321	Cerebellar hypoplasia
OMIM:616353	TERC	7012	HP:0001508	Failure to thrive
OMIM:616353	TERC	7012	HP:0000252	Microcephaly
OMIM:616353	TERC	7012	HP:0001511	Intrauterine growth retardation
OMIM:616353	TINF2	26277	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	TINF2	26277	HP:0000670	Carious teeth
OMIM:616353	TINF2	26277	HP:0008404	Nail dystrophy
OMIM:616353	TINF2	26277	HP:0001251	Ataxia
OMIM:616353	TINF2	26277	HP:0008070	Sparse hair
OMIM:616353	TINF2	26277	HP:0001263	Global developmental delay
OMIM:616353	TINF2	26277	HP:0001596	Alopecia
OMIM:616353	TINF2	26277	HP:0001321	Cerebellar hypoplasia
OMIM:616353	TINF2	26277	HP:0001508	Failure to thrive
OMIM:616353	TINF2	26277	HP:0000252	Microcephaly
OMIM:616353	TINF2	26277	HP:0001511	Intrauterine growth retardation
OMIM:616353	RTEL1	51750	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	RTEL1	51750	HP:0000670	Carious teeth
OMIM:616353	RTEL1	51750	HP:0008404	Nail dystrophy
OMIM:616353	RTEL1	51750	HP:0001251	Ataxia
OMIM:616353	RTEL1	51750	HP:0008070	Sparse hair
OMIM:616353	RTEL1	51750	HP:0001263	Global developmental delay
OMIM:616353	RTEL1	51750	HP:0001596	Alopecia
OMIM:616353	RTEL1	51750	HP:0001321	Cerebellar hypoplasia
OMIM:616353	RTEL1	51750	HP:0001508	Failure to thrive
OMIM:616353	RTEL1	51750	HP:0000252	Microcephaly
OMIM:616353	RTEL1	51750	HP:0001511	Intrauterine growth retardation
OMIM:616353	TERT	7015	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	TERT	7015	HP:0000670	Carious teeth
OMIM:616353	TERT	7015	HP:0008404	Nail dystrophy
OMIM:616353	TERT	7015	HP:0001251	Ataxia
OMIM:616353	TERT	7015	HP:0008070	Sparse hair
OMIM:616353	TERT	7015	HP:0001263	Global developmental delay
OMIM:616353	TERT	7015	HP:0001596	Alopecia
OMIM:616353	TERT	7015	HP:0001321	Cerebellar hypoplasia
OMIM:616353	TERT	7015	HP:0001508	Failure to thrive
OMIM:616353	TERT	7015	HP:0000252	Microcephaly
OMIM:616353	TERT	7015	HP:0001511	Intrauterine growth retardation
OMIM:616353	DKC1	1736	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	DKC1	1736	HP:0000670	Carious teeth
OMIM:616353	DKC1	1736	HP:0008404	Nail dystrophy
OMIM:616353	DKC1	1736	HP:0001251	Ataxia
OMIM:616353	DKC1	1736	HP:0008070	Sparse hair
OMIM:616353	DKC1	1736	HP:0001263	Global developmental delay
OMIM:616353	DKC1	1736	HP:0001596	Alopecia
OMIM:616353	DKC1	1736	HP:0001321	Cerebellar hypoplasia
OMIM:616353	DKC1	1736	HP:0001508	Failure to thrive
OMIM:616353	DKC1	1736	HP:0000252	Microcephaly
OMIM:616353	DKC1	1736	HP:0001511	Intrauterine growth retardation
OMIM:616353	CTC1	80169	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	CTC1	80169	HP:0000670	Carious teeth
OMIM:616353	CTC1	80169	HP:0008404	Nail dystrophy
OMIM:616353	CTC1	80169	HP:0001251	Ataxia
OMIM:616353	CTC1	80169	HP:0008070	Sparse hair
OMIM:616353	CTC1	80169	HP:0001263	Global developmental delay
OMIM:616353	CTC1	80169	HP:0001596	Alopecia
OMIM:616353	CTC1	80169	HP:0001321	Cerebellar hypoplasia
OMIM:616353	CTC1	80169	HP:0001508	Failure to thrive
OMIM:616353	CTC1	80169	HP:0000252	Microcephaly
OMIM:616353	CTC1	80169	HP:0001511	Intrauterine growth retardation
OMIM:616353	WRAP53	55135	HP:0001000	Abnormality of skin pigmentation
OMIM:616353	WRAP53	55135	HP:0000670	Carious teeth
OMIM:616353	WRAP53	55135	HP:0008404	Nail dystrophy
OMIM:616353	WRAP53	55135	HP:0001251	Ataxia
OMIM:616353	WRAP53	55135	HP:0008070	Sparse hair
OMIM:616353	WRAP53	55135	HP:0001263	Global developmental delay
OMIM:616353	WRAP53	55135	HP:0001596	Alopecia
OMIM:616353	WRAP53	55135	HP:0001321	Cerebellar hypoplasia
OMIM:616353	WRAP53	55135	HP:0001508	Failure to thrive
OMIM:616353	WRAP53	55135	HP:0000252	Microcephaly
OMIM:616353	WRAP53	55135	HP:0001511	Intrauterine growth retardation
OMIM:245590	STAT5B	6777	HP:0000824	Growth hormone deficiency
OMIM:245590	STAT5B	6777	HP:0003510	Severe short stature
OMIM:245590	STAT5B	6777	HP:0002880	Respiratory difficulties
OMIM:256050	SLC26A2	1836	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:256050	SLC26A2	1836	HP:0002089	Pulmonary hypoplasia
OMIM:256050	SLC26A2	1836	HP:0005819	Short middle phalanx of finger
OMIM:256050	SLC26A2	1836	HP:0001762	Talipes equinovarus
OMIM:256050	SLC26A2	1836	HP:0002650	Scoliosis
OMIM:256050	SLC26A2	1836	HP:0002938	Lumbar hyperlordosis
OMIM:256050	SLC26A2	1836	HP:0002983	Micromelia
OMIM:256050	SLC26A2	1836	HP:0000007	Autosomal recessive inheritance
OMIM:256050	SLC26A2	1836	HP:0003826	Stillbirth
OMIM:256050	SLC26A2	1836	HP:0000272	Malar flattening
OMIM:256050	SLC26A2	1836	HP:0005257	Thoracic hypoplasia
OMIM:256050	SLC26A2	1836	HP:0000470	Short neck
OMIM:256050	SLC26A2	1836	HP:0005280	Depressed nasal bridge
OMIM:256050	SLC26A2	1836	HP:0000926	Platyspondyly
OMIM:256050	SLC26A2	1836	HP:0001852	Sandal gap
OMIM:256050	SLC26A2	1836	HP:0002093	Respiratory insufficiency
OMIM:256050	SLC26A2	1836	HP:0011800	Hypoplasia of midface
OMIM:256050	SLC26A2	1836	HP:0000347	Micrognathia
OMIM:256050	SLC26A2	1836	HP:0000175	Cleft palate
OMIM:256050	SLC26A2	1836	HP:0003417	Coronal cleft vertebrae
OMIM:245400	SUCLG1	8802	HP:0003202	Skeletal muscle atrophy
OMIM:245400	SUCLG1	8802	HP:0002878	Respiratory failure
OMIM:245400	SUCLG1	8802	HP:0001510	Growth delay
OMIM:245400	SUCLG1	8802	HP:0003128	Lactic acidosis
OMIM:245400	SUCLG1	8802	HP:0001252	Muscular hypotonia
OMIM:245400	SUCLG1	8802	HP:0001298	Encephalopathy
OMIM:245400	SUCLG1	8802	HP:0001943	Hypoglycemia
OMIM:245400	SUCLG1	8802	HP:0000365	Hearing impairment
OMIM:245400	SUCLG1	8802	HP:0001251	Ataxia
OMIM:245400	SUCLG1	8802	HP:0003812	Phenotypic variability
OMIM:245400	SUCLG1	8802	HP:0010864	Intellectual disability, severe
OMIM:245400	SUCLG1	8802	HP:0002059	Cerebral atrophy
OMIM:245400	SUCLG1	8802	HP:0000951	Abnormality of the skin
OMIM:245400	SUCLG1	8802	HP:0002148	Hypophosphatemia
OMIM:245400	SUCLG1	8802	HP:0012120	Methylmalonic aciduria
OMIM:245400	SUCLG1	8802	HP:0000975	Hyperhidrosis
OMIM:245400	SUCLG1	8802	HP:0003593	Infantile onset
OMIM:245400	SUCLG1	8802	HP:0002317	Unsteady gait
OMIM:245400	SUCLG1	8802	HP:0011968	Feeding difficulties
OMIM:245400	SUCLG1	8802	HP:0000007	Autosomal recessive inheritance
OMIM:245400	SUCLG1	8802	HP:0001508	Failure to thrive
OMIM:245400	SUCLG1	8802	HP:0001263	Global developmental delay
OMIM:245400	SUCLG1	8802	HP:0001250	Seizures
OMIM:613101	STX11	8676	HP:0001433	Hepatosplenomegaly
OMIM:613101	STX11	8676	HP:0002155	Hypertriglyceridemia
OMIM:613101	STX11	8676	HP:0000007	Autosomal recessive inheritance
OMIM:613101	STXBP2	6813	HP:0001433	Hepatosplenomegaly
OMIM:613101	STXBP2	6813	HP:0002155	Hypertriglyceridemia
OMIM:613101	STXBP2	6813	HP:0000007	Autosomal recessive inheritance
OMIM:613101	UNC13D	201294	HP:0001433	Hepatosplenomegaly
OMIM:613101	UNC13D	201294	HP:0002155	Hypertriglyceridemia
OMIM:613101	UNC13D	201294	HP:0000007	Autosomal recessive inheritance
OMIM:613101	PRF1	5551	HP:0001433	Hepatosplenomegaly
OMIM:613101	PRF1	5551	HP:0002155	Hypertriglyceridemia
OMIM:613101	PRF1	5551	HP:0000007	Autosomal recessive inheritance
OMIM:614650	COQ6	51004	HP:0000097	Focal segmental glomerulosclerosis
OMIM:614650	COQ6	51004	HP:0000007	Autosomal recessive inheritance
OMIM:614650	COQ6	51004	HP:0000093	Proteinuria
OMIM:614650	COQ6	51004	HP:0000100	Nephrotic syndrome
OMIM:614650	COQ6	51004	HP:0001250	Seizures
OMIM:614650	COQ6	51004	HP:0000407	Sensorineural hearing impairment
OMIM:614650	COQ6	51004	HP:0003593	Infantile onset
OMIM:614650	COQ6	51004	HP:0003678	Rapidly progressive
OMIM:614923	BCKDK	10295	HP:0000717	Autism
OMIM:614923	BCKDK	10295	HP:0001250	Seizures
OMIM:614923	BCKDK	10295	HP:0001249	Intellectual disability
OMIM:250100	ARSA	410	HP:0000738	Hallucinations
OMIM:250100	ARSA	410	HP:0001265	Hyporeflexia
OMIM:250100	ARSA	410	HP:0002500	Abnormality of the cerebral white matter
OMIM:250100	ARSA	410	HP:0001251	Ataxia
OMIM:250100	ARSA	410	HP:0005609	Gallbladder dysfunction
OMIM:250100	ARSA	410	HP:0000746	Delusions
OMIM:250100	ARSA	410	HP:0001268	Mental deterioration
OMIM:250100	ARSA	410	HP:0001347	Hyperreflexia
OMIM:250100	ARSA	410	HP:0003487	Babinski sign
OMIM:250100	ARSA	410	HP:0003445	EMG: neuropathic changes
OMIM:250100	ARSA	410	HP:0002922	Increased CSF protein
OMIM:250100	ARSA	410	HP:0001082	Cholecystitis
OMIM:250100	ARSA	410	HP:0001252	Muscular hypotonia
OMIM:250100	ARSA	410	HP:0001283	Bulbar palsy
OMIM:250100	ARSA	410	HP:0001249	Intellectual disability
OMIM:250100	ARSA	410	HP:0001288	Gait disturbance
OMIM:250100	ARSA	410	HP:0002510	Spastic tetraplegia
OMIM:250100	ARSA	410	HP:0002445	Tetraplegia
OMIM:250100	ARSA	410	HP:0002371	Loss of speech
OMIM:250100	ARSA	410	HP:0000020	Urinary incontinence
OMIM:250100	ARSA	410	HP:0000762	Decreased nerve conduction velocity
OMIM:250100	ARSA	410	HP:0000712	Emotional lability
OMIM:250100	ARSA	410	HP:0001250	Seizures
OMIM:250100	ARSA	410	HP:0000648	Optic atrophy
OMIM:250100	ARSA	410	HP:0007133	Progressive peripheral neuropathy
OMIM:250100	ARSA	410	HP:0001332	Dystonia
OMIM:250100	ARSA	410	HP:0000007	Autosomal recessive inheritance
OMIM:250100	ARSA	410	HP:0001260	Dysarthria
OMIM:250100	ARSA	410	HP:0002072	Chorea
OMIM:250100	ARSA	410	HP:0011096	Peripheral demyelination
OMIM:613640	ATL3	25923	HP:0002460	Distal muscle weakness
OMIM:613640	ATL3	25923	HP:0000970	Anhidrosis
OMIM:613640	ATL3	25923	HP:0200042	Skin ulcer
OMIM:613640	ATL3	25923	HP:0000006	Autosomal dominant inheritance
OMIM:613640	ATL3	25923	HP:0001218	Autoamputation
OMIM:613640	ATL3	25923	HP:0002936	Distal sensory impairment
OMIM:613640	ATL3	25923	HP:0007141	Sensorimotor neuropathy
OMIM:613640	ATL3	25923	HP:0001760	Abnormality of the foot
OMIM:613640	ATL3	25923	HP:0002754	Osteomyelitis
OMIM:613640	ATL1	51062	HP:0002460	Distal muscle weakness
OMIM:613640	ATL1	51062	HP:0000970	Anhidrosis
OMIM:613640	ATL1	51062	HP:0200042	Skin ulcer
OMIM:613640	ATL1	51062	HP:0000006	Autosomal dominant inheritance
OMIM:613640	ATL1	51062	HP:0001218	Autoamputation
OMIM:613640	ATL1	51062	HP:0002936	Distal sensory impairment
OMIM:613640	ATL1	51062	HP:0007141	Sensorimotor neuropathy
OMIM:613640	ATL1	51062	HP:0001760	Abnormality of the foot
OMIM:613640	ATL1	51062	HP:0002754	Osteomyelitis
OMIM:613640	SPTLC2	9517	HP:0002460	Distal muscle weakness
OMIM:613640	SPTLC2	9517	HP:0000970	Anhidrosis
OMIM:613640	SPTLC2	9517	HP:0200042	Skin ulcer
OMIM:613640	SPTLC2	9517	HP:0000006	Autosomal dominant inheritance
OMIM:613640	SPTLC2	9517	HP:0001218	Autoamputation
OMIM:613640	SPTLC2	9517	HP:0002936	Distal sensory impairment
OMIM:613640	SPTLC2	9517	HP:0007141	Sensorimotor neuropathy
OMIM:613640	SPTLC2	9517	HP:0001760	Abnormality of the foot
OMIM:613640	SPTLC2	9517	HP:0002754	Osteomyelitis
OMIM:613640	SPTLC1	10558	HP:0002460	Distal muscle weakness
OMIM:613640	SPTLC1	10558	HP:0000970	Anhidrosis
OMIM:613640	SPTLC1	10558	HP:0200042	Skin ulcer
OMIM:613640	SPTLC1	10558	HP:0000006	Autosomal dominant inheritance
OMIM:613640	SPTLC1	10558	HP:0001218	Autoamputation
OMIM:613640	SPTLC1	10558	HP:0002936	Distal sensory impairment
OMIM:613640	SPTLC1	10558	HP:0007141	Sensorimotor neuropathy
OMIM:613640	SPTLC1	10558	HP:0001760	Abnormality of the foot
OMIM:613640	SPTLC1	10558	HP:0002754	Osteomyelitis
OMIM:613730	JAM3	83700	HP:0003577	Congenital onset
OMIM:613730	JAM3	83700	HP:0001263	Global developmental delay
OMIM:613730	JAM3	83700	HP:0005484	Postnatal microcephaly
OMIM:613730	JAM3	83700	HP:0001257	Spasticity
OMIM:613730	JAM3	83700	HP:0001347	Hyperreflexia
OMIM:613730	JAM3	83700	HP:0001321	Cerebellar hypoplasia
OMIM:613730	JAM3	83700	HP:0000007	Autosomal recessive inheritance
OMIM:613730	JAM3	83700	HP:0000028	Cryptorchidism
OMIM:613730	JAM3	83700	HP:0000518	Cataract
OMIM:613730	JAM3	83700	HP:0001250	Seizures
OMIM:613730	JAM3	83700	HP:0002119	Ventriculomegaly
OMIM:613730	JAM3	83700	HP:0002240	Hepatomegaly
OMIM:613730	JAM3	83700	HP:0000086	Ectopic kidney
OMIM:143880	CYP24A1	1591	HP:0002150	Hypercalciuria
OMIM:143880	CYP24A1	1591	HP:0001508	Failure to thrive
OMIM:143880	CYP24A1	1591	HP:0001642	Pulmonic stenosis
OMIM:143880	CYP24A1	1591	HP:0004428	Elfin facies
OMIM:143880	CYP24A1	1591	HP:0000787	Nephrolithiasis
OMIM:143880	CYP24A1	1591	HP:0002013	Vomiting
OMIM:143880	CYP24A1	1591	HP:0001249	Intellectual disability
OMIM:143880	CYP24A1	1591	HP:0000478	Abnormality of the eye
OMIM:143880	CYP24A1	1591	HP:0001254	Lethargy
OMIM:143880	CYP24A1	1591	HP:0001824	Weight loss
OMIM:143880	CYP24A1	1591	HP:0000006	Autosomal dominant inheritance
OMIM:143880	CYP24A1	1591	HP:0000007	Autosomal recessive inheritance
OMIM:143880	CYP24A1	1591	HP:0001650	Aortic valve stenosis
OMIM:143880	CYP24A1	1591	HP:0000179	Thick lower lip vermilion
OMIM:143880	CYP24A1	1591	HP:0000121	Nephrocalcinosis
OMIM:143880	CYP24A1	1591	HP:0001252	Muscular hypotonia
OMIM:143880	CYP24A1	1591	HP:0001944	Dehydration
OMIM:606713	IRF6	3664	HP:0000204	Cleft upper lip
OMIM:606713	IRF6	3664	HP:0000006	Autosomal dominant inheritance
OMIM:606713	IRF6	3664	HP:0000674	Anodontia
OMIM:606713	IRF6	3664	HP:0000175	Cleft palate
OMIM:606713	GRHL3	57822	HP:0000204	Cleft upper lip
OMIM:606713	GRHL3	57822	HP:0000006	Autosomal dominant inheritance
OMIM:606713	GRHL3	57822	HP:0000674	Anodontia
OMIM:606713	GRHL3	57822	HP:0000175	Cleft palate
OMIM:230450	GCLC	2729	HP:0001903	Anemia
OMIM:230450	GCLC	2729	HP:0000007	Autosomal recessive inheritance
OMIM:230450	GCLC	2729	HP:0001878	Hemolytic anemia
OMIM:230450	GCLC	2729	HP:0003198	Myopathy
OMIM:230450	GCLC	2729	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:230450	GCLC	2729	HP:0001271	Polyneuropathy
OMIM:614947	MTFMT	123263	HP:0000252	Microcephaly
OMIM:614947	MTFMT	123263	HP:0007256	Abnormal pyramidal signs
OMIM:614947	MTFMT	123263	HP:0001250	Seizures
OMIM:614947	MTFMT	123263	HP:0007663	Reduced visual acuity
OMIM:614947	MTFMT	123263	HP:0000486	Strabismus
OMIM:614947	MTFMT	123263	HP:0001251	Ataxia
OMIM:614947	MTFMT	123263	HP:0003812	Phenotypic variability
OMIM:614947	MTFMT	123263	HP:0000648	Optic atrophy
OMIM:614947	MTFMT	123263	HP:0001252	Muscular hypotonia
OMIM:614947	MTFMT	123263	HP:0002311	Incoordination
OMIM:614947	MTFMT	123263	HP:0000750	Delayed speech and language development
OMIM:614947	MTFMT	123263	HP:0001629	Ventricular septal defect
OMIM:614947	MTFMT	123263	HP:0002151	Increased serum lactate
OMIM:614947	MTFMT	123263	HP:0100543	Cognitive impairment
OMIM:614947	MTFMT	123263	HP:0002500	Abnormality of the cerebral white matter
OMIM:614947	MTFMT	123263	HP:0002317	Unsteady gait
OMIM:614947	MTFMT	123263	HP:0001337	Tremor
OMIM:614947	MTFMT	123263	HP:0001513	Obesity
OMIM:614947	MTFMT	123263	HP:0004322	Short stature
OMIM:614947	MTFMT	123263	HP:0000639	Nystagmus
OMIM:614947	MTFMT	123263	HP:0002490	Increased CSF lactate
OMIM:614947	MTFMT	123263	HP:0000505	Visual impairment
OMIM:614947	MTFMT	123263	HP:0001263	Global developmental delay
OMIM:614947	MTFMT	123263	HP:0000007	Autosomal recessive inheritance
OMIM:300166	BCOR	54880	HP:0000612	Iris coloboma
OMIM:300166	BCOR	54880	HP:0001643	Patent ductus arteriosus
OMIM:300166	BCOR	54880	HP:0001371	Flexion contracture
OMIM:300166	BCOR	54880	HP:0000574	Thick eyebrow
OMIM:300166	BCOR	54880	HP:0000821	Hypothyroidism
OMIM:300166	BCOR	54880	HP:0002553	Highly arched eyebrow
OMIM:300166	BCOR	54880	HP:0000276	Long face
OMIM:300166	BCOR	54880	HP:0002974	Radioulnar synostosis
OMIM:300166	BCOR	54880	HP:0009804	Reduced number of teeth
OMIM:300166	BCOR	54880	HP:0000508	Ptosis
OMIM:300166	BCOR	54880	HP:0002650	Scoliosis
OMIM:300166	BCOR	54880	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:300166	BCOR	54880	HP:0000482	Microcornea
OMIM:300166	BCOR	54880	HP:0004209	Clinodactyly of the 5th finger
OMIM:300166	BCOR	54880	HP:0004691	2-3 toe syndactyly
OMIM:300166	BCOR	54880	HP:0000358	Posteriorly rotated ears
OMIM:300166	BCOR	54880	HP:0001633	Abnormality of the mitral valve
OMIM:300166	BCOR	54880	HP:0000501	Glaucoma
OMIM:300166	BCOR	54880	HP:0001762	Talipes equinovarus
OMIM:300166	BCOR	54880	HP:0000518	Cataract
OMIM:300166	BCOR	54880	HP:0000572	Visual loss
OMIM:300166	BCOR	54880	HP:0001651	Dextrocardia
OMIM:300166	BCOR	54880	HP:0000528	Anophthalmia
OMIM:300166	BCOR	54880	HP:0000176	Submucous cleft hard palate
OMIM:300166	BCOR	54880	HP:0001083	Ectopia lentis
OMIM:300166	BCOR	54880	HP:0000846	Adrenal insufficiency
OMIM:300166	BCOR	54880	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300166	BCOR	54880	HP:0000426	Prominent nasal bridge
OMIM:300166	BCOR	54880	HP:0002566	Intestinal malrotation
OMIM:300166	BCOR	54880	HP:0000193	Bifid uvula
OMIM:300166	BCOR	54880	HP:0000541	Retinal detachment
OMIM:300166	BCOR	54880	HP:0000407	Sensorineural hearing impairment
OMIM:300166	BCOR	54880	HP:0002967	Cubitus valgus
OMIM:300166	BCOR	54880	HP:0001423	X-linked dominant inheritance
OMIM:300166	BCOR	54880	HP:0004322	Short stature
OMIM:300166	BCOR	54880	HP:0001770	Toe syndactyly
OMIM:300166	BCOR	54880	HP:0100543	Cognitive impairment
OMIM:300166	BCOR	54880	HP:0000275	Narrow face
OMIM:300166	BCOR	54880	HP:0000577	Exotropia
OMIM:300166	BCOR	54880	HP:0000689	Dental malocclusion
OMIM:300166	BCOR	54880	HP:0001634	Mitral valve prolapse
OMIM:300166	BCOR	54880	HP:0004325	Decreased body weight
OMIM:300166	BCOR	54880	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:300166	BCOR	54880	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:300166	BCOR	54880	HP:0000047	Hypospadias
OMIM:300166	BCOR	54880	HP:0000252	Microcephaly
OMIM:300166	BCOR	54880	HP:0001537	Umbilical hernia
OMIM:300166	BCOR	54880	HP:0001650	Aortic valve stenosis
OMIM:300166	BCOR	54880	HP:0006315	Single median maxillary incisor
OMIM:300166	BCOR	54880	HP:0000684	Delayed eruption of teeth
OMIM:300166	BCOR	54880	HP:0001629	Ventricular septal defect
OMIM:300166	BCOR	54880	HP:0001719	Double outlet right ventricle
OMIM:300166	BCOR	54880	HP:0002857	Genu valgum
OMIM:300166	BCOR	54880	HP:0000175	Cleft palate
OMIM:300166	BCOR	54880	HP:0006335	Persistence of primary teeth
OMIM:300166	BCOR	54880	HP:0001641	Abnormality of the pulmonary valve
OMIM:300166	BCOR	54880	HP:0000343	Long philtrum
OMIM:300166	BCOR	54880	HP:0001631	Atria septal defect
OMIM:300166	BCOR	54880	HP:0001765	Hammertoe
OMIM:300166	BCOR	54880	HP:0000028	Cryptorchidism
OMIM:300166	BCOR	54880	HP:0004122	Midline defect of the nose
OMIM:300166	BCOR	54880	HP:0008872	Feeding difficulties in infancy
OMIM:300166	BCOR	54880	HP:0000581	Blepharophimosis
OMIM:300166	BCOR	54880	HP:0000519	Congenital cataract
OMIM:300166	BCOR	54880	HP:0001270	Motor delay
OMIM:300166	BCOR	54880	HP:0001671	Abnormality of the cardiac septa
OMIM:300166	BCOR	54880	HP:0001250	Seizures
OMIM:300166	BCOR	54880	HP:0001256	Intellectual disability, mild
OMIM:300166	BCOR	54880	HP:0000455	Broad nasal tip
OMIM:300166	BCOR	54880	HP:0000568	Microphthalmia
OMIM:300166	BCOR	54880	HP:0001642	Pulmonic stenosis
OMIM:300166	BCOR	54880	HP:0002313	Spastic paraparesis
OMIM:300166	NAA10	8260	HP:0000612	Iris coloboma
OMIM:300166	NAA10	8260	HP:0001643	Patent ductus arteriosus
OMIM:300166	NAA10	8260	HP:0001371	Flexion contracture
OMIM:300166	NAA10	8260	HP:0000574	Thick eyebrow
OMIM:300166	NAA10	8260	HP:0000821	Hypothyroidism
OMIM:300166	NAA10	8260	HP:0002553	Highly arched eyebrow
OMIM:300166	NAA10	8260	HP:0000276	Long face
OMIM:300166	NAA10	8260	HP:0002974	Radioulnar synostosis
OMIM:300166	NAA10	8260	HP:0009804	Reduced number of teeth
OMIM:300166	NAA10	8260	HP:0000508	Ptosis
OMIM:300166	NAA10	8260	HP:0002650	Scoliosis
OMIM:300166	NAA10	8260	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:300166	NAA10	8260	HP:0000482	Microcornea
OMIM:300166	NAA10	8260	HP:0004209	Clinodactyly of the 5th finger
OMIM:300166	NAA10	8260	HP:0004691	2-3 toe syndactyly
OMIM:300166	NAA10	8260	HP:0000358	Posteriorly rotated ears
OMIM:300166	NAA10	8260	HP:0001633	Abnormality of the mitral valve
OMIM:300166	NAA10	8260	HP:0000501	Glaucoma
OMIM:300166	NAA10	8260	HP:0001762	Talipes equinovarus
OMIM:300166	NAA10	8260	HP:0000518	Cataract
OMIM:300166	NAA10	8260	HP:0000572	Visual loss
OMIM:300166	NAA10	8260	HP:0001651	Dextrocardia
OMIM:300166	NAA10	8260	HP:0000528	Anophthalmia
OMIM:300166	NAA10	8260	HP:0000176	Submucous cleft hard palate
OMIM:300166	NAA10	8260	HP:0001083	Ectopia lentis
OMIM:300166	NAA10	8260	HP:0000846	Adrenal insufficiency
OMIM:300166	NAA10	8260	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300166	NAA10	8260	HP:0000426	Prominent nasal bridge
OMIM:300166	NAA10	8260	HP:0002566	Intestinal malrotation
OMIM:300166	NAA10	8260	HP:0000193	Bifid uvula
OMIM:300166	NAA10	8260	HP:0000541	Retinal detachment
OMIM:300166	NAA10	8260	HP:0000407	Sensorineural hearing impairment
OMIM:300166	NAA10	8260	HP:0002967	Cubitus valgus
OMIM:300166	NAA10	8260	HP:0001423	X-linked dominant inheritance
OMIM:300166	NAA10	8260	HP:0004322	Short stature
OMIM:300166	NAA10	8260	HP:0001770	Toe syndactyly
OMIM:300166	NAA10	8260	HP:0100543	Cognitive impairment
OMIM:300166	NAA10	8260	HP:0000275	Narrow face
OMIM:300166	NAA10	8260	HP:0000577	Exotropia
OMIM:300166	NAA10	8260	HP:0000689	Dental malocclusion
OMIM:300166	NAA10	8260	HP:0001634	Mitral valve prolapse
OMIM:300166	NAA10	8260	HP:0004325	Decreased body weight
OMIM:300166	NAA10	8260	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:300166	NAA10	8260	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:300166	NAA10	8260	HP:0000047	Hypospadias
OMIM:300166	NAA10	8260	HP:0000252	Microcephaly
OMIM:300166	NAA10	8260	HP:0001537	Umbilical hernia
OMIM:300166	NAA10	8260	HP:0001650	Aortic valve stenosis
OMIM:300166	NAA10	8260	HP:0006315	Single median maxillary incisor
OMIM:300166	NAA10	8260	HP:0000684	Delayed eruption of teeth
OMIM:300166	NAA10	8260	HP:0001629	Ventricular septal defect
OMIM:300166	NAA10	8260	HP:0001719	Double outlet right ventricle
OMIM:300166	NAA10	8260	HP:0002857	Genu valgum
OMIM:300166	NAA10	8260	HP:0000175	Cleft palate
OMIM:300166	NAA10	8260	HP:0006335	Persistence of primary teeth
OMIM:300166	NAA10	8260	HP:0001641	Abnormality of the pulmonary valve
OMIM:300166	NAA10	8260	HP:0000343	Long philtrum
OMIM:300166	NAA10	8260	HP:0001631	Atria septal defect
OMIM:300166	NAA10	8260	HP:0001765	Hammertoe
OMIM:300166	NAA10	8260	HP:0000028	Cryptorchidism
OMIM:300166	NAA10	8260	HP:0004122	Midline defect of the nose
OMIM:300166	NAA10	8260	HP:0008872	Feeding difficulties in infancy
OMIM:300166	NAA10	8260	HP:0000581	Blepharophimosis
OMIM:300166	NAA10	8260	HP:0000519	Congenital cataract
OMIM:300166	NAA10	8260	HP:0001270	Motor delay
OMIM:300166	NAA10	8260	HP:0001671	Abnormality of the cardiac septa
OMIM:300166	NAA10	8260	HP:0001250	Seizures
OMIM:300166	NAA10	8260	HP:0001256	Intellectual disability, mild
OMIM:300166	NAA10	8260	HP:0000455	Broad nasal tip
OMIM:300166	NAA10	8260	HP:0000568	Microphthalmia
OMIM:300166	NAA10	8260	HP:0001642	Pulmonic stenosis
OMIM:300166	NAA10	8260	HP:0002313	Spastic paraparesis
OMIM:312000	SOX3	6658	HP:0001417	X-linked inheritance
OMIM:312000	PROP1	5626	HP:0001417	X-linked inheritance
OMIM:516005	ND5	4540	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:516005	ND5	4540	HP:0000543	Optic disc pallor
OMIM:516005	ND5	4540	HP:0001427	Mitochondrial inheritance
OMIM:516005	ND5	4540	HP:0002315	Headache
OMIM:516005	ND5	4540	HP:0003674	Onset
OMIM:610427	SLC24A1	9187	HP:0000551	Abnormality of color vision
OMIM:610427	SLC24A1	9187	HP:0000007	Autosomal recessive inheritance
OMIM:610427	SLC24A1	9187	HP:0000505	Visual impairment
OMIM:610427	SLC24A1	9187	HP:0000486	Strabismus
OMIM:610427	SLC24A1	9187	HP:0000639	Nystagmus
OMIM:610427	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:610427	SLC24A1	9187	HP:0000613	Photophobia
OMIM:610427	SLC24A1	9187	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	GRM6	2916	HP:0000551	Abnormality of color vision
OMIM:610427	GRM6	2916	HP:0000007	Autosomal recessive inheritance
OMIM:610427	GRM6	2916	HP:0000505	Visual impairment
OMIM:610427	GRM6	2916	HP:0000486	Strabismus
OMIM:610427	GRM6	2916	HP:0000639	Nystagmus
OMIM:610427	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:610427	GRM6	2916	HP:0000613	Photophobia
OMIM:610427	GRM6	2916	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	PDE6B	5158	HP:0000551	Abnormality of color vision
OMIM:610427	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:610427	PDE6B	5158	HP:0000505	Visual impairment
OMIM:610427	PDE6B	5158	HP:0000486	Strabismus
OMIM:610427	PDE6B	5158	HP:0000639	Nystagmus
OMIM:610427	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:610427	PDE6B	5158	HP:0000613	Photophobia
OMIM:610427	PDE6B	5158	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	CACNA1F	778	HP:0000551	Abnormality of color vision
OMIM:610427	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:610427	CACNA1F	778	HP:0000505	Visual impairment
OMIM:610427	CACNA1F	778	HP:0000486	Strabismus
OMIM:610427	CACNA1F	778	HP:0000639	Nystagmus
OMIM:610427	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:610427	CACNA1F	778	HP:0000613	Photophobia
OMIM:610427	CACNA1F	778	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	LRIT3	345193	HP:0000551	Abnormality of color vision
OMIM:610427	LRIT3	345193	HP:0000007	Autosomal recessive inheritance
OMIM:610427	LRIT3	345193	HP:0000505	Visual impairment
OMIM:610427	LRIT3	345193	HP:0000486	Strabismus
OMIM:610427	LRIT3	345193	HP:0000639	Nystagmus
OMIM:610427	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:610427	LRIT3	345193	HP:0000613	Photophobia
OMIM:610427	LRIT3	345193	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	CABP4	57010	HP:0000551	Abnormality of color vision
OMIM:610427	CABP4	57010	HP:0000007	Autosomal recessive inheritance
OMIM:610427	CABP4	57010	HP:0000505	Visual impairment
OMIM:610427	CABP4	57010	HP:0000486	Strabismus
OMIM:610427	CABP4	57010	HP:0000639	Nystagmus
OMIM:610427	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:610427	CABP4	57010	HP:0000613	Photophobia
OMIM:610427	CABP4	57010	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	CACNA2D4	93589	HP:0000551	Abnormality of color vision
OMIM:610427	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:610427	CACNA2D4	93589	HP:0000505	Visual impairment
OMIM:610427	CACNA2D4	93589	HP:0000486	Strabismus
OMIM:610427	CACNA2D4	93589	HP:0000639	Nystagmus
OMIM:610427	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:610427	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:610427	CACNA2D4	93589	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	TRPM1	4308	HP:0000551	Abnormality of color vision
OMIM:610427	TRPM1	4308	HP:0000007	Autosomal recessive inheritance
OMIM:610427	TRPM1	4308	HP:0000505	Visual impairment
OMIM:610427	TRPM1	4308	HP:0000486	Strabismus
OMIM:610427	TRPM1	4308	HP:0000639	Nystagmus
OMIM:610427	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:610427	TRPM1	4308	HP:0000613	Photophobia
OMIM:610427	TRPM1	4308	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	GPR179	440435	HP:0000551	Abnormality of color vision
OMIM:610427	GPR179	440435	HP:0000007	Autosomal recessive inheritance
OMIM:610427	GPR179	440435	HP:0000505	Visual impairment
OMIM:610427	GPR179	440435	HP:0000486	Strabismus
OMIM:610427	GPR179	440435	HP:0000639	Nystagmus
OMIM:610427	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:610427	GPR179	440435	HP:0000613	Photophobia
OMIM:610427	GPR179	440435	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	SAG	6295	HP:0000551	Abnormality of color vision
OMIM:610427	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:610427	SAG	6295	HP:0000505	Visual impairment
OMIM:610427	SAG	6295	HP:0000486	Strabismus
OMIM:610427	SAG	6295	HP:0000639	Nystagmus
OMIM:610427	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:610427	SAG	6295	HP:0000613	Photophobia
OMIM:610427	SAG	6295	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	RHO	6010	HP:0000551	Abnormality of color vision
OMIM:610427	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:610427	RHO	6010	HP:0000505	Visual impairment
OMIM:610427	RHO	6010	HP:0000486	Strabismus
OMIM:610427	RHO	6010	HP:0000639	Nystagmus
OMIM:610427	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:610427	RHO	6010	HP:0000613	Photophobia
OMIM:610427	RHO	6010	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	NYX	60506	HP:0000551	Abnormality of color vision
OMIM:610427	NYX	60506	HP:0000007	Autosomal recessive inheritance
OMIM:610427	NYX	60506	HP:0000505	Visual impairment
OMIM:610427	NYX	60506	HP:0000486	Strabismus
OMIM:610427	NYX	60506	HP:0000639	Nystagmus
OMIM:610427	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:610427	NYX	60506	HP:0000613	Photophobia
OMIM:610427	NYX	60506	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	GNAT1	2779	HP:0000551	Abnormality of color vision
OMIM:610427	GNAT1	2779	HP:0000007	Autosomal recessive inheritance
OMIM:610427	GNAT1	2779	HP:0000505	Visual impairment
OMIM:610427	GNAT1	2779	HP:0000486	Strabismus
OMIM:610427	GNAT1	2779	HP:0000639	Nystagmus
OMIM:610427	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:610427	GNAT1	2779	HP:0000613	Photophobia
OMIM:610427	GNAT1	2779	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:610427	GRK1	6011	HP:0000551	Abnormality of color vision
OMIM:610427	GRK1	6011	HP:0000007	Autosomal recessive inheritance
OMIM:610427	GRK1	6011	HP:0000505	Visual impairment
OMIM:610427	GRK1	6011	HP:0000486	Strabismus
OMIM:610427	GRK1	6011	HP:0000639	Nystagmus
OMIM:610427	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:610427	GRK1	6011	HP:0000613	Photophobia
OMIM:610427	GRK1	6011	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:612781	GH1	2688	HP:0004322	Short stature
OMIM:612781	GH1	2688	HP:0000007	Autosomal recessive inheritance
OMIM:612781	GH1	2688	HP:0000824	Growth hormone deficiency
OMIM:612781	GH1	2688	HP:0002750	Delayed skeletal maturation
OMIM:612781	GHRHR	2692	HP:0004322	Short stature
OMIM:612781	GHRHR	2692	HP:0000007	Autosomal recessive inheritance
OMIM:612781	GHRHR	2692	HP:0000824	Growth hormone deficiency
OMIM:612781	GHRHR	2692	HP:0002750	Delayed skeletal maturation
OMIM:253700	SGCG	6445	HP:0003307	Hyperlordosis
OMIM:253700	SGCG	6445	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253700	SGCG	6445	HP:0001667	Right ventricular hypertrophy
OMIM:253700	SGCG	6445	HP:0003560	Muscular dystrophy
OMIM:253700	SGCG	6445	HP:0002650	Scoliosis
OMIM:253700	SGCG	6445	HP:0003391	Gowers sign
OMIM:253700	SGCG	6445	HP:0003707	Calf muscle pseudohypertrophy
OMIM:253700	SGCG	6445	HP:0002091	Restrictive lung disease
OMIM:253700	SGCG	6445	HP:0002090	Pneumonia
OMIM:253700	SGCG	6445	HP:0003678	Rapidly progressive
OMIM:253700	SGCG	6445	HP:0001371	Flexion contracture
OMIM:253700	SGCG	6445	HP:0000007	Autosomal recessive inheritance
OMIM:253700	SGCG	6445	HP:0003202	Skeletal muscle atrophy
OMIM:605583	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:605583	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:605583	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:605583	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:605583	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:605583	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:605583	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:605583	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:605583	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:605583	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:605583	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:605583	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:605583	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:605583	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:605583	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:605583	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:605583	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:605583	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:605583	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:605583	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:605583	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:605583	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:605583	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:605583	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:605583	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:605583	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:605583	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:605583	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:605583	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:605583	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:605583	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:605583	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:605583	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:605583	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:605583	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:605583	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:605583	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:605583	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:605583	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:605583	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:605583	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:605583	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:605583	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:605583	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:605583	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:605583	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:605583	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:605583	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:605583	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:605583	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:605583	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:605583	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:605583	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:605583	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:605583	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:605583	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:605583	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:605583	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:605583	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:605583	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:605583	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:605583	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:605583	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:605583	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:605583	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:605583	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:605583	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:605583	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:605583	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:605583	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:225750	SAMHD1	25939	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:225750	SAMHD1	25939	HP:0004394	Multiple gastric polyps
OMIM:225750	SAMHD1	25939	HP:0000486	Strabismus
OMIM:225750	SAMHD1	25939	HP:0002352	Leukoencephalopathy
OMIM:225750	SAMHD1	25939	HP:0000253	Progressive microcephaly
OMIM:225750	SAMHD1	25939	HP:0002059	Cerebral atrophy
OMIM:225750	SAMHD1	25939	HP:0001263	Global developmental delay
OMIM:225750	SAMHD1	25939	HP:0001332	Dystonia
OMIM:225750	SAMHD1	25939	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:225750	SAMHD1	25939	HP:0009710	Chilblain lesions
OMIM:225750	SAMHD1	25939	HP:0006579	Prolonged neonatal jaundice
OMIM:225750	SAMHD1	25939	HP:0000979	Purpura
OMIM:225750	SAMHD1	25939	HP:0001063	Acrocyanosis
OMIM:225750	SAMHD1	25939	HP:0001945	Fever
OMIM:225750	SAMHD1	25939	HP:0001744	Splenomegaly
OMIM:225750	SAMHD1	25939	HP:0001250	Seizures
OMIM:225750	SAMHD1	25939	HP:0002910	Elevated hepatic transaminases
OMIM:225750	SAMHD1	25939	HP:0002187	Intellectual disability, profound
OMIM:225750	SAMHD1	25939	HP:0002448	Progressive encephalopathy
OMIM:225750	SAMHD1	25939	HP:0002135	Basal ganglia calcification
OMIM:225750	SAMHD1	25939	HP:0000006	Autosomal dominant inheritance
OMIM:225750	SAMHD1	25939	HP:0008936	Muscular hypotonia of the trunk
OMIM:225750	SAMHD1	25939	HP:0000007	Autosomal recessive inheritance
OMIM:225750	SAMHD1	25939	HP:0001257	Spasticity
OMIM:225750	SAMHD1	25939	HP:0002421	Poor head control
OMIM:225750	SAMHD1	25939	HP:0008872	Feeding difficulties in infancy
OMIM:225750	SAMHD1	25939	HP:0002240	Hepatomegaly
OMIM:225750	SAMHD1	25939	HP:0009709	Increased CSF interferon alpha
OMIM:225750	SAMHD1	25939	HP:0001873	Thrombocytopenia
OMIM:225750	SAMHD1	25939	HP:0009704	Chronic CSF lymphocytosis
OMIM:225750	SAMHD1	25939	HP:0001433	Hepatosplenomegaly
OMIM:225750	SAMHD1	25939	HP:0000639	Nystagmus
OMIM:225750	SAMHD1	25939	HP:0000967	Petechiae
OMIM:225750	SAMHD1	25939	HP:0007321	Deep white matter hypodensities
OMIM:225750	RNASEH2B	79621	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:225750	RNASEH2B	79621	HP:0004394	Multiple gastric polyps
OMIM:225750	RNASEH2B	79621	HP:0000486	Strabismus
OMIM:225750	RNASEH2B	79621	HP:0002352	Leukoencephalopathy
OMIM:225750	RNASEH2B	79621	HP:0000253	Progressive microcephaly
OMIM:225750	RNASEH2B	79621	HP:0002059	Cerebral atrophy
OMIM:225750	RNASEH2B	79621	HP:0001263	Global developmental delay
OMIM:225750	RNASEH2B	79621	HP:0001332	Dystonia
OMIM:225750	RNASEH2B	79621	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:225750	RNASEH2B	79621	HP:0009710	Chilblain lesions
OMIM:225750	RNASEH2B	79621	HP:0006579	Prolonged neonatal jaundice
OMIM:225750	RNASEH2B	79621	HP:0000979	Purpura
OMIM:225750	RNASEH2B	79621	HP:0001063	Acrocyanosis
OMIM:225750	RNASEH2B	79621	HP:0001945	Fever
OMIM:225750	RNASEH2B	79621	HP:0001744	Splenomegaly
OMIM:225750	RNASEH2B	79621	HP:0001250	Seizures
OMIM:225750	RNASEH2B	79621	HP:0002910	Elevated hepatic transaminases
OMIM:225750	RNASEH2B	79621	HP:0002187	Intellectual disability, profound
OMIM:225750	RNASEH2B	79621	HP:0002448	Progressive encephalopathy
OMIM:225750	RNASEH2B	79621	HP:0002135	Basal ganglia calcification
OMIM:225750	RNASEH2B	79621	HP:0000006	Autosomal dominant inheritance
OMIM:225750	RNASEH2B	79621	HP:0008936	Muscular hypotonia of the trunk
OMIM:225750	RNASEH2B	79621	HP:0000007	Autosomal recessive inheritance
OMIM:225750	RNASEH2B	79621	HP:0001257	Spasticity
OMIM:225750	RNASEH2B	79621	HP:0002421	Poor head control
OMIM:225750	RNASEH2B	79621	HP:0008872	Feeding difficulties in infancy
OMIM:225750	RNASEH2B	79621	HP:0002240	Hepatomegaly
OMIM:225750	RNASEH2B	79621	HP:0009709	Increased CSF interferon alpha
OMIM:225750	RNASEH2B	79621	HP:0001873	Thrombocytopenia
OMIM:225750	RNASEH2B	79621	HP:0009704	Chronic CSF lymphocytosis
OMIM:225750	RNASEH2B	79621	HP:0001433	Hepatosplenomegaly
OMIM:225750	RNASEH2B	79621	HP:0000639	Nystagmus
OMIM:225750	RNASEH2B	79621	HP:0000967	Petechiae
OMIM:225750	RNASEH2B	79621	HP:0007321	Deep white matter hypodensities
OMIM:225750	RNASEH2A	10535	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:225750	RNASEH2A	10535	HP:0004394	Multiple gastric polyps
OMIM:225750	RNASEH2A	10535	HP:0000486	Strabismus
OMIM:225750	RNASEH2A	10535	HP:0002352	Leukoencephalopathy
OMIM:225750	RNASEH2A	10535	HP:0000253	Progressive microcephaly
OMIM:225750	RNASEH2A	10535	HP:0002059	Cerebral atrophy
OMIM:225750	RNASEH2A	10535	HP:0001263	Global developmental delay
OMIM:225750	RNASEH2A	10535	HP:0001332	Dystonia
OMIM:225750	RNASEH2A	10535	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:225750	RNASEH2A	10535	HP:0009710	Chilblain lesions
OMIM:225750	RNASEH2A	10535	HP:0006579	Prolonged neonatal jaundice
OMIM:225750	RNASEH2A	10535	HP:0000979	Purpura
OMIM:225750	RNASEH2A	10535	HP:0001063	Acrocyanosis
OMIM:225750	RNASEH2A	10535	HP:0001945	Fever
OMIM:225750	RNASEH2A	10535	HP:0001744	Splenomegaly
OMIM:225750	RNASEH2A	10535	HP:0001250	Seizures
OMIM:225750	RNASEH2A	10535	HP:0002910	Elevated hepatic transaminases
OMIM:225750	RNASEH2A	10535	HP:0002187	Intellectual disability, profound
OMIM:225750	RNASEH2A	10535	HP:0002448	Progressive encephalopathy
OMIM:225750	RNASEH2A	10535	HP:0002135	Basal ganglia calcification
OMIM:225750	RNASEH2A	10535	HP:0000006	Autosomal dominant inheritance
OMIM:225750	RNASEH2A	10535	HP:0008936	Muscular hypotonia of the trunk
OMIM:225750	RNASEH2A	10535	HP:0000007	Autosomal recessive inheritance
OMIM:225750	RNASEH2A	10535	HP:0001257	Spasticity
OMIM:225750	RNASEH2A	10535	HP:0002421	Poor head control
OMIM:225750	RNASEH2A	10535	HP:0008872	Feeding difficulties in infancy
OMIM:225750	RNASEH2A	10535	HP:0002240	Hepatomegaly
OMIM:225750	RNASEH2A	10535	HP:0009709	Increased CSF interferon alpha
OMIM:225750	RNASEH2A	10535	HP:0001873	Thrombocytopenia
OMIM:225750	RNASEH2A	10535	HP:0009704	Chronic CSF lymphocytosis
OMIM:225750	RNASEH2A	10535	HP:0001433	Hepatosplenomegaly
OMIM:225750	RNASEH2A	10535	HP:0000639	Nystagmus
OMIM:225750	RNASEH2A	10535	HP:0000967	Petechiae
OMIM:225750	RNASEH2A	10535	HP:0007321	Deep white matter hypodensities
OMIM:225750	ADAR	103	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:225750	ADAR	103	HP:0004394	Multiple gastric polyps
OMIM:225750	ADAR	103	HP:0000486	Strabismus
OMIM:225750	ADAR	103	HP:0002352	Leukoencephalopathy
OMIM:225750	ADAR	103	HP:0000253	Progressive microcephaly
OMIM:225750	ADAR	103	HP:0002059	Cerebral atrophy
OMIM:225750	ADAR	103	HP:0001263	Global developmental delay
OMIM:225750	ADAR	103	HP:0001332	Dystonia
OMIM:225750	ADAR	103	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:225750	ADAR	103	HP:0009710	Chilblain lesions
OMIM:225750	ADAR	103	HP:0006579	Prolonged neonatal jaundice
OMIM:225750	ADAR	103	HP:0000979	Purpura
OMIM:225750	ADAR	103	HP:0001063	Acrocyanosis
OMIM:225750	ADAR	103	HP:0001945	Fever
OMIM:225750	ADAR	103	HP:0001744	Splenomegaly
OMIM:225750	ADAR	103	HP:0001250	Seizures
OMIM:225750	ADAR	103	HP:0002910	Elevated hepatic transaminases
OMIM:225750	ADAR	103	HP:0002187	Intellectual disability, profound
OMIM:225750	ADAR	103	HP:0002448	Progressive encephalopathy
OMIM:225750	ADAR	103	HP:0002135	Basal ganglia calcification
OMIM:225750	ADAR	103	HP:0000006	Autosomal dominant inheritance
OMIM:225750	ADAR	103	HP:0008936	Muscular hypotonia of the trunk
OMIM:225750	ADAR	103	HP:0000007	Autosomal recessive inheritance
OMIM:225750	ADAR	103	HP:0001257	Spasticity
OMIM:225750	ADAR	103	HP:0002421	Poor head control
OMIM:225750	ADAR	103	HP:0008872	Feeding difficulties in infancy
OMIM:225750	ADAR	103	HP:0002240	Hepatomegaly
OMIM:225750	ADAR	103	HP:0009709	Increased CSF interferon alpha
OMIM:225750	ADAR	103	HP:0001873	Thrombocytopenia
OMIM:225750	ADAR	103	HP:0009704	Chronic CSF lymphocytosis
OMIM:225750	ADAR	103	HP:0001433	Hepatosplenomegaly
OMIM:225750	ADAR	103	HP:0000639	Nystagmus
OMIM:225750	ADAR	103	HP:0000967	Petechiae
OMIM:225750	ADAR	103	HP:0007321	Deep white matter hypodensities
OMIM:225750	IFIH1	64135	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:225750	IFIH1	64135	HP:0004394	Multiple gastric polyps
OMIM:225750	IFIH1	64135	HP:0000486	Strabismus
OMIM:225750	IFIH1	64135	HP:0002352	Leukoencephalopathy
OMIM:225750	IFIH1	64135	HP:0000253	Progressive microcephaly
OMIM:225750	IFIH1	64135	HP:0002059	Cerebral atrophy
OMIM:225750	IFIH1	64135	HP:0001263	Global developmental delay
OMIM:225750	IFIH1	64135	HP:0001332	Dystonia
OMIM:225750	IFIH1	64135	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:225750	IFIH1	64135	HP:0009710	Chilblain lesions
OMIM:225750	IFIH1	64135	HP:0006579	Prolonged neonatal jaundice
OMIM:225750	IFIH1	64135	HP:0000979	Purpura
OMIM:225750	IFIH1	64135	HP:0001063	Acrocyanosis
OMIM:225750	IFIH1	64135	HP:0001945	Fever
OMIM:225750	IFIH1	64135	HP:0001744	Splenomegaly
OMIM:225750	IFIH1	64135	HP:0001250	Seizures
OMIM:225750	IFIH1	64135	HP:0002910	Elevated hepatic transaminases
OMIM:225750	IFIH1	64135	HP:0002187	Intellectual disability, profound
OMIM:225750	IFIH1	64135	HP:0002448	Progressive encephalopathy
OMIM:225750	IFIH1	64135	HP:0002135	Basal ganglia calcification
OMIM:225750	IFIH1	64135	HP:0000006	Autosomal dominant inheritance
OMIM:225750	IFIH1	64135	HP:0008936	Muscular hypotonia of the trunk
OMIM:225750	IFIH1	64135	HP:0000007	Autosomal recessive inheritance
OMIM:225750	IFIH1	64135	HP:0001257	Spasticity
OMIM:225750	IFIH1	64135	HP:0002421	Poor head control
OMIM:225750	IFIH1	64135	HP:0008872	Feeding difficulties in infancy
OMIM:225750	IFIH1	64135	HP:0002240	Hepatomegaly
OMIM:225750	IFIH1	64135	HP:0009709	Increased CSF interferon alpha
OMIM:225750	IFIH1	64135	HP:0001873	Thrombocytopenia
OMIM:225750	IFIH1	64135	HP:0009704	Chronic CSF lymphocytosis
OMIM:225750	IFIH1	64135	HP:0001433	Hepatosplenomegaly
OMIM:225750	IFIH1	64135	HP:0000639	Nystagmus
OMIM:225750	IFIH1	64135	HP:0000967	Petechiae
OMIM:225750	IFIH1	64135	HP:0007321	Deep white matter hypodensities
OMIM:225750	RNASEH2C	84153	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:225750	RNASEH2C	84153	HP:0004394	Multiple gastric polyps
OMIM:225750	RNASEH2C	84153	HP:0000486	Strabismus
OMIM:225750	RNASEH2C	84153	HP:0002352	Leukoencephalopathy
OMIM:225750	RNASEH2C	84153	HP:0000253	Progressive microcephaly
OMIM:225750	RNASEH2C	84153	HP:0002059	Cerebral atrophy
OMIM:225750	RNASEH2C	84153	HP:0001263	Global developmental delay
OMIM:225750	RNASEH2C	84153	HP:0001332	Dystonia
OMIM:225750	RNASEH2C	84153	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:225750	RNASEH2C	84153	HP:0009710	Chilblain lesions
OMIM:225750	RNASEH2C	84153	HP:0006579	Prolonged neonatal jaundice
OMIM:225750	RNASEH2C	84153	HP:0000979	Purpura
OMIM:225750	RNASEH2C	84153	HP:0001063	Acrocyanosis
OMIM:225750	RNASEH2C	84153	HP:0001945	Fever
OMIM:225750	RNASEH2C	84153	HP:0001744	Splenomegaly
OMIM:225750	RNASEH2C	84153	HP:0001250	Seizures
OMIM:225750	RNASEH2C	84153	HP:0002910	Elevated hepatic transaminases
OMIM:225750	RNASEH2C	84153	HP:0002187	Intellectual disability, profound
OMIM:225750	RNASEH2C	84153	HP:0002448	Progressive encephalopathy
OMIM:225750	RNASEH2C	84153	HP:0002135	Basal ganglia calcification
OMIM:225750	RNASEH2C	84153	HP:0000006	Autosomal dominant inheritance
OMIM:225750	RNASEH2C	84153	HP:0008936	Muscular hypotonia of the trunk
OMIM:225750	RNASEH2C	84153	HP:0000007	Autosomal recessive inheritance
OMIM:225750	RNASEH2C	84153	HP:0001257	Spasticity
OMIM:225750	RNASEH2C	84153	HP:0002421	Poor head control
OMIM:225750	RNASEH2C	84153	HP:0008872	Feeding difficulties in infancy
OMIM:225750	RNASEH2C	84153	HP:0002240	Hepatomegaly
OMIM:225750	RNASEH2C	84153	HP:0009709	Increased CSF interferon alpha
OMIM:225750	RNASEH2C	84153	HP:0001873	Thrombocytopenia
OMIM:225750	RNASEH2C	84153	HP:0009704	Chronic CSF lymphocytosis
OMIM:225750	RNASEH2C	84153	HP:0001433	Hepatosplenomegaly
OMIM:225750	RNASEH2C	84153	HP:0000639	Nystagmus
OMIM:225750	RNASEH2C	84153	HP:0000967	Petechiae
OMIM:225750	RNASEH2C	84153	HP:0007321	Deep white matter hypodensities
OMIM:225750	TREX1	11277	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:225750	TREX1	11277	HP:0004394	Multiple gastric polyps
OMIM:225750	TREX1	11277	HP:0000486	Strabismus
OMIM:225750	TREX1	11277	HP:0002352	Leukoencephalopathy
OMIM:225750	TREX1	11277	HP:0000253	Progressive microcephaly
OMIM:225750	TREX1	11277	HP:0002059	Cerebral atrophy
OMIM:225750	TREX1	11277	HP:0001263	Global developmental delay
OMIM:225750	TREX1	11277	HP:0001332	Dystonia
OMIM:225750	TREX1	11277	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:225750	TREX1	11277	HP:0009710	Chilblain lesions
OMIM:225750	TREX1	11277	HP:0006579	Prolonged neonatal jaundice
OMIM:225750	TREX1	11277	HP:0000979	Purpura
OMIM:225750	TREX1	11277	HP:0001063	Acrocyanosis
OMIM:225750	TREX1	11277	HP:0001945	Fever
OMIM:225750	TREX1	11277	HP:0001744	Splenomegaly
OMIM:225750	TREX1	11277	HP:0001250	Seizures
OMIM:225750	TREX1	11277	HP:0002910	Elevated hepatic transaminases
OMIM:225750	TREX1	11277	HP:0002187	Intellectual disability, profound
OMIM:225750	TREX1	11277	HP:0002448	Progressive encephalopathy
OMIM:225750	TREX1	11277	HP:0002135	Basal ganglia calcification
OMIM:225750	TREX1	11277	HP:0000006	Autosomal dominant inheritance
OMIM:225750	TREX1	11277	HP:0008936	Muscular hypotonia of the trunk
OMIM:225750	TREX1	11277	HP:0000007	Autosomal recessive inheritance
OMIM:225750	TREX1	11277	HP:0001257	Spasticity
OMIM:225750	TREX1	11277	HP:0002421	Poor head control
OMIM:225750	TREX1	11277	HP:0008872	Feeding difficulties in infancy
OMIM:225750	TREX1	11277	HP:0002240	Hepatomegaly
OMIM:225750	TREX1	11277	HP:0009709	Increased CSF interferon alpha
OMIM:225750	TREX1	11277	HP:0001873	Thrombocytopenia
OMIM:225750	TREX1	11277	HP:0009704	Chronic CSF lymphocytosis
OMIM:225750	TREX1	11277	HP:0001433	Hepatosplenomegaly
OMIM:225750	TREX1	11277	HP:0000639	Nystagmus
OMIM:225750	TREX1	11277	HP:0000967	Petechiae
OMIM:225750	TREX1	11277	HP:0007321	Deep white matter hypodensities
OMIM:608971	CD3D	915	HP:0000388	Otitis media
OMIM:608971	CD3D	915	HP:0001744	Splenomegaly
OMIM:608971	CD3D	915	HP:0000964	Eczema
OMIM:608971	CD3D	915	HP:0002716	Lymphadenopathy
OMIM:608971	CD3D	915	HP:0002240	Hepatomegaly
OMIM:608971	CD3D	915	HP:0000007	Autosomal recessive inheritance
OMIM:608971	CD3D	915	HP:0004430	Severe combined immunodeficiency
OMIM:608971	CD3D	915	HP:0002014	Diarrhea
OMIM:608971	CD3E	916	HP:0000388	Otitis media
OMIM:608971	CD3E	916	HP:0001744	Splenomegaly
OMIM:608971	CD3E	916	HP:0000964	Eczema
OMIM:608971	CD3E	916	HP:0002716	Lymphadenopathy
OMIM:608971	CD3E	916	HP:0002240	Hepatomegaly
OMIM:608971	CD3E	916	HP:0000007	Autosomal recessive inheritance
OMIM:608971	CD3E	916	HP:0004430	Severe combined immunodeficiency
OMIM:608971	CD3E	916	HP:0002014	Diarrhea
OMIM:608971	IL7R	3575	HP:0000388	Otitis media
OMIM:608971	IL7R	3575	HP:0001744	Splenomegaly
OMIM:608971	IL7R	3575	HP:0000964	Eczema
OMIM:608971	IL7R	3575	HP:0002716	Lymphadenopathy
OMIM:608971	IL7R	3575	HP:0002240	Hepatomegaly
OMIM:608971	IL7R	3575	HP:0000007	Autosomal recessive inheritance
OMIM:608971	IL7R	3575	HP:0004430	Severe combined immunodeficiency
OMIM:608971	IL7R	3575	HP:0002014	Diarrhea
OMIM:608971	CD247	919	HP:0000388	Otitis media
OMIM:608971	CD247	919	HP:0001744	Splenomegaly
OMIM:608971	CD247	919	HP:0000964	Eczema
OMIM:608971	CD247	919	HP:0002716	Lymphadenopathy
OMIM:608971	CD247	919	HP:0002240	Hepatomegaly
OMIM:608971	CD247	919	HP:0000007	Autosomal recessive inheritance
OMIM:608971	CD247	919	HP:0004430	Severe combined immunodeficiency
OMIM:608971	CD247	919	HP:0002014	Diarrhea
OMIM:608971	PTPRC	5788	HP:0000388	Otitis media
OMIM:608971	PTPRC	5788	HP:0001744	Splenomegaly
OMIM:608971	PTPRC	5788	HP:0000964	Eczema
OMIM:608971	PTPRC	5788	HP:0002716	Lymphadenopathy
OMIM:608971	PTPRC	5788	HP:0002240	Hepatomegaly
OMIM:608971	PTPRC	5788	HP:0000007	Autosomal recessive inheritance
OMIM:608971	PTPRC	5788	HP:0004430	Severe combined immunodeficiency
OMIM:608971	PTPRC	5788	HP:0002014	Diarrhea
ORPHANET:2140	GATA6	2627	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2140	ZFPM2	23414	HP:0000776	Congenital diaphragmatic hernia
OMIM:613404	VPS33B	26276	HP:0000121	Nephrocalcinosis
OMIM:613404	VPS33B	26276	HP:0001339	Lissencephaly
OMIM:613404	VPS33B	26276	HP:0000340	Sloping forehead
OMIM:613404	VPS33B	26276	HP:0002910	Elevated hepatic transaminases
OMIM:613404	VPS33B	26276	HP:0000112	Nephropathy
OMIM:613404	VPS33B	26276	HP:0001508	Failure to thrive
OMIM:613404	VPS33B	26276	HP:0008064	Ichthyosis
OMIM:613404	VPS33B	26276	HP:0001942	Metabolic acidosis
OMIM:613404	VPS33B	26276	HP:0000252	Microcephaly
OMIM:613404	VPS33B	26276	HP:0001385	Hip dysplasia
OMIM:613404	VPS33B	26276	HP:0000952	Jaundice
OMIM:613404	VPS33B	26276	HP:0001252	Muscular hypotonia
OMIM:613404	VPS33B	26276	HP:0002908	Conjugated hyperbilirubinemia
OMIM:613404	VPS33B	26276	HP:0200084	Giant cell hepatitis
OMIM:613404	VPS33B	26276	HP:0001629	Ventricular septal defect
OMIM:613404	VPS33B	26276	HP:0001263	Global developmental delay
OMIM:613404	VPS33B	26276	HP:0000007	Autosomal recessive inheritance
OMIM:613404	VPS33B	26276	HP:0000369	Low-set ears
OMIM:613404	VPS33B	26276	HP:0002804	Arthrogryposis multiplex congenita
OMIM:613404	VIPAS39	63894	HP:0000121	Nephrocalcinosis
OMIM:613404	VIPAS39	63894	HP:0001339	Lissencephaly
OMIM:613404	VIPAS39	63894	HP:0000340	Sloping forehead
OMIM:613404	VIPAS39	63894	HP:0002910	Elevated hepatic transaminases
OMIM:613404	VIPAS39	63894	HP:0000112	Nephropathy
OMIM:613404	VIPAS39	63894	HP:0001508	Failure to thrive
OMIM:613404	VIPAS39	63894	HP:0008064	Ichthyosis
OMIM:613404	VIPAS39	63894	HP:0001942	Metabolic acidosis
OMIM:613404	VIPAS39	63894	HP:0000252	Microcephaly
OMIM:613404	VIPAS39	63894	HP:0001385	Hip dysplasia
OMIM:613404	VIPAS39	63894	HP:0000952	Jaundice
OMIM:613404	VIPAS39	63894	HP:0001252	Muscular hypotonia
OMIM:613404	VIPAS39	63894	HP:0002908	Conjugated hyperbilirubinemia
OMIM:613404	VIPAS39	63894	HP:0200084	Giant cell hepatitis
OMIM:613404	VIPAS39	63894	HP:0001629	Ventricular septal defect
OMIM:613404	VIPAS39	63894	HP:0001263	Global developmental delay
OMIM:613404	VIPAS39	63894	HP:0000007	Autosomal recessive inheritance
OMIM:613404	VIPAS39	63894	HP:0000369	Low-set ears
OMIM:613404	VIPAS39	63894	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:35093	ALX4	60529	HP:0000269	Prominent occiput
ORPHANET:35093	ALX4	60529	HP:0000268	Dolichocephaly
ORPHANET:35093	ALX4	60529	HP:0002007	Frontal bossing
ORPHANET:35093	TWIST1	7291	HP:0000269	Prominent occiput
ORPHANET:35093	TWIST1	7291	HP:0000268	Dolichocephaly
ORPHANET:35093	TWIST1	7291	HP:0002007	Frontal bossing
ORPHANET:35093	ERF	2077	HP:0000269	Prominent occiput
ORPHANET:35093	ERF	2077	HP:0000268	Dolichocephaly
ORPHANET:35093	ERF	2077	HP:0002007	Frontal bossing
OMIM:606843	CD40	958	HP:0000007	Autosomal recessive inheritance
OMIM:606843	CD40	958	HP:0004315	IgG deficiency
OMIM:606843	CD40	958	HP:0002721	Immunodeficiency
OMIM:606843	CD40	958	HP:0001875	Neutropenia
OMIM:606843	CD40	958	HP:0002718	Recurrent bacterial infections
OMIM:161000	KRT14	3861	HP:0001231	Abnormality of the fingernails
OMIM:161000	KRT14	3861	HP:0000670	Carious teeth
OMIM:161000	KRT14	3861	HP:0007400	Irregular hyperpigmentation
OMIM:161000	KRT14	3861	HP:0000006	Autosomal dominant inheritance
OMIM:161000	KRT14	3861	HP:0008388	Abnormality of the toenails
OMIM:161000	KRT14	3861	HP:0000966	Hypohidrosis
OMIM:161000	KRT14	3861	HP:0000982	Palmoplantar keratoderma
OMIM:161000	KRT14	3861	HP:0000682	Abnormality of dental enamel
OMIM:614044	PRSS1	5644	HP:0001508	Failure to thrive
OMIM:614044	PRSS1	5644	HP:0002023	Anal atresia
OMIM:614044	PRSS1	5644	HP:0003075	Hypoproteinemia
OMIM:614044	PRSS1	5644	HP:0000007	Autosomal recessive inheritance
OMIM:616081	TSEN54	283989	HP:0002120	Cerebral cortical atrophy
OMIM:616081	TSEN54	283989	HP:0000365	Hearing impairment
OMIM:616081	TSEN54	283989	HP:0001324	Muscle weakness
OMIM:616081	TSEN54	283989	HP:0001371	Flexion contracture
OMIM:616081	TSEN54	283989	HP:0007269	Spinal muscular atrophy
OMIM:616081	TSEN54	283989	HP:0011968	Feeding difficulties
OMIM:616081	TSEN54	283989	HP:0002878	Respiratory failure
OMIM:616081	TSEN54	283989	HP:0001285	Spastic tetraparesis
OMIM:616081	TSEN54	283989	HP:0001508	Failure to thrive
OMIM:616081	TSEN54	283989	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616081	TSEN54	283989	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616081	TSEN54	283989	HP:0001263	Global developmental delay
OMIM:616081	TSEN54	283989	HP:0000505	Visual impairment
OMIM:616081	EXOSC3	51010	HP:0002120	Cerebral cortical atrophy
OMIM:616081	EXOSC3	51010	HP:0000365	Hearing impairment
OMIM:616081	EXOSC3	51010	HP:0001324	Muscle weakness
OMIM:616081	EXOSC3	51010	HP:0001371	Flexion contracture
OMIM:616081	EXOSC3	51010	HP:0007269	Spinal muscular atrophy
OMIM:616081	EXOSC3	51010	HP:0011968	Feeding difficulties
OMIM:616081	EXOSC3	51010	HP:0002878	Respiratory failure
OMIM:616081	EXOSC3	51010	HP:0001285	Spastic tetraparesis
OMIM:616081	EXOSC3	51010	HP:0001508	Failure to thrive
OMIM:616081	EXOSC3	51010	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616081	EXOSC3	51010	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616081	EXOSC3	51010	HP:0001263	Global developmental delay
OMIM:616081	EXOSC3	51010	HP:0000505	Visual impairment
OMIM:616081	VRK1	7443	HP:0002120	Cerebral cortical atrophy
OMIM:616081	VRK1	7443	HP:0000365	Hearing impairment
OMIM:616081	VRK1	7443	HP:0001324	Muscle weakness
OMIM:616081	VRK1	7443	HP:0001371	Flexion contracture
OMIM:616081	VRK1	7443	HP:0007269	Spinal muscular atrophy
OMIM:616081	VRK1	7443	HP:0011968	Feeding difficulties
OMIM:616081	VRK1	7443	HP:0002878	Respiratory failure
OMIM:616081	VRK1	7443	HP:0001285	Spastic tetraparesis
OMIM:616081	VRK1	7443	HP:0001508	Failure to thrive
OMIM:616081	VRK1	7443	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616081	VRK1	7443	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616081	VRK1	7443	HP:0001263	Global developmental delay
OMIM:616081	VRK1	7443	HP:0000505	Visual impairment
OMIM:616081	EXOSC8	11340	HP:0002120	Cerebral cortical atrophy
OMIM:616081	EXOSC8	11340	HP:0000365	Hearing impairment
OMIM:616081	EXOSC8	11340	HP:0001324	Muscle weakness
OMIM:616081	EXOSC8	11340	HP:0001371	Flexion contracture
OMIM:616081	EXOSC8	11340	HP:0007269	Spinal muscular atrophy
OMIM:616081	EXOSC8	11340	HP:0011968	Feeding difficulties
OMIM:616081	EXOSC8	11340	HP:0002878	Respiratory failure
OMIM:616081	EXOSC8	11340	HP:0001285	Spastic tetraparesis
OMIM:616081	EXOSC8	11340	HP:0001508	Failure to thrive
OMIM:616081	EXOSC8	11340	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616081	EXOSC8	11340	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616081	EXOSC8	11340	HP:0001263	Global developmental delay
OMIM:616081	EXOSC8	11340	HP:0000505	Visual impairment
OMIM:616081	RARS2	57038	HP:0002120	Cerebral cortical atrophy
OMIM:616081	RARS2	57038	HP:0000365	Hearing impairment
OMIM:616081	RARS2	57038	HP:0001324	Muscle weakness
OMIM:616081	RARS2	57038	HP:0001371	Flexion contracture
OMIM:616081	RARS2	57038	HP:0007269	Spinal muscular atrophy
OMIM:616081	RARS2	57038	HP:0011968	Feeding difficulties
OMIM:616081	RARS2	57038	HP:0002878	Respiratory failure
OMIM:616081	RARS2	57038	HP:0001285	Spastic tetraparesis
OMIM:616081	RARS2	57038	HP:0001508	Failure to thrive
OMIM:616081	RARS2	57038	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616081	RARS2	57038	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616081	RARS2	57038	HP:0001263	Global developmental delay
OMIM:616081	RARS2	57038	HP:0000505	Visual impairment
OMIM:208085	VPS33B	26276	HP:0001667	Right ventricular hypertrophy
OMIM:208085	VPS33B	26276	HP:0000369	Low-set ears
OMIM:208085	VPS33B	26276	HP:0001631	Atria septal defect
OMIM:208085	VPS33B	26276	HP:0001522	Death in infancy
OMIM:208085	VPS33B	26276	HP:0000952	Jaundice
OMIM:208085	VPS33B	26276	HP:0001629	Ventricular septal defect
OMIM:208085	VPS33B	26276	HP:0002910	Elevated hepatic transaminases
OMIM:208085	VPS33B	26276	HP:0001942	Metabolic acidosis
OMIM:208085	VPS33B	26276	HP:0001263	Global developmental delay
OMIM:208085	VPS33B	26276	HP:0000112	Nephropathy
OMIM:208085	VPS33B	26276	HP:0001892	Abnormal bleeding
OMIM:208085	VPS33B	26276	HP:0001944	Dehydration
OMIM:208085	VPS33B	26276	HP:0200084	Giant cell hepatitis
OMIM:208085	VPS33B	26276	HP:0000347	Micrognathia
OMIM:208085	VPS33B	26276	HP:0000007	Autosomal recessive inheritance
OMIM:208085	VPS33B	26276	HP:0008064	Ichthyosis
OMIM:208085	VPS33B	26276	HP:0000340	Sloping forehead
OMIM:208085	VPS33B	26276	HP:0001339	Lissencephaly
OMIM:208085	VPS33B	26276	HP:0001508	Failure to thrive
OMIM:208085	VPS33B	26276	HP:0002804	Arthrogryposis multiplex congenita
OMIM:208085	VPS33B	26276	HP:0001385	Hip dysplasia
OMIM:208085	VPS33B	26276	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208085	VPS33B	26276	HP:0000252	Microcephaly
OMIM:208085	VPS33B	26276	HP:0000121	Nephrocalcinosis
OMIM:208085	VPS33B	26276	HP:0001252	Muscular hypotonia
OMIM:208085	VIPAS39	63894	HP:0001667	Right ventricular hypertrophy
OMIM:208085	VIPAS39	63894	HP:0000369	Low-set ears
OMIM:208085	VIPAS39	63894	HP:0001631	Atria septal defect
OMIM:208085	VIPAS39	63894	HP:0001522	Death in infancy
OMIM:208085	VIPAS39	63894	HP:0000952	Jaundice
OMIM:208085	VIPAS39	63894	HP:0001629	Ventricular septal defect
OMIM:208085	VIPAS39	63894	HP:0002910	Elevated hepatic transaminases
OMIM:208085	VIPAS39	63894	HP:0001942	Metabolic acidosis
OMIM:208085	VIPAS39	63894	HP:0001263	Global developmental delay
OMIM:208085	VIPAS39	63894	HP:0000112	Nephropathy
OMIM:208085	VIPAS39	63894	HP:0001892	Abnormal bleeding
OMIM:208085	VIPAS39	63894	HP:0001944	Dehydration
OMIM:208085	VIPAS39	63894	HP:0200084	Giant cell hepatitis
OMIM:208085	VIPAS39	63894	HP:0000347	Micrognathia
OMIM:208085	VIPAS39	63894	HP:0000007	Autosomal recessive inheritance
OMIM:208085	VIPAS39	63894	HP:0008064	Ichthyosis
OMIM:208085	VIPAS39	63894	HP:0000340	Sloping forehead
OMIM:208085	VIPAS39	63894	HP:0001339	Lissencephaly
OMIM:208085	VIPAS39	63894	HP:0001508	Failure to thrive
OMIM:208085	VIPAS39	63894	HP:0002804	Arthrogryposis multiplex congenita
OMIM:208085	VIPAS39	63894	HP:0001385	Hip dysplasia
OMIM:208085	VIPAS39	63894	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208085	VIPAS39	63894	HP:0000252	Microcephaly
OMIM:208085	VIPAS39	63894	HP:0000121	Nephrocalcinosis
OMIM:208085	VIPAS39	63894	HP:0001252	Muscular hypotonia
OMIM:305400	FGD1	2245	HP:0003196	Short nose
OMIM:305400	FGD1	2245	HP:0000316	Hypertelorism
OMIM:305400	FGD1	2245	HP:0000668	Hypodontia
OMIM:305400	FGD1	2245	HP:0001508	Failure to thrive
OMIM:305400	FGD1	2245	HP:0000767	Pectus excavatum
OMIM:305400	FGD1	2245	HP:0000494	Downslanted palpebral fissures
OMIM:305400	FGD1	2245	HP:0004279	Short palm
OMIM:305400	FGD1	2245	HP:0009748	Large earlobe
OMIM:305400	FGD1	2245	HP:0030084	Clinodactyly
OMIM:305400	FGD1	2245	HP:0000289	Broad philtrum
OMIM:305400	FGD1	2245	HP:0009466	Radial deviation of finger
OMIM:305400	FGD1	2245	HP:0001156	Brachydactyly syndrome
OMIM:305400	FGD1	2245	HP:0000311	Round face
OMIM:305400	FGD1	2245	HP:0000508	Ptosis
OMIM:305400	FGD1	2245	HP:0007018	Attention deficit hyperactivity disorder
OMIM:305400	FGD1	2245	HP:0000023	Inguinal hernia
OMIM:305400	FGD1	2245	HP:0000327	Hypoplasia of the maxilla
OMIM:305400	FGD1	2245	HP:0001773	Short foot
OMIM:305400	FGD1	2245	HP:0000204	Cleft upper lip
OMIM:305400	FGD1	2245	HP:0000463	Anteverted nares
OMIM:305400	FGD1	2245	HP:0002650	Scoliosis
OMIM:305400	FGD1	2245	HP:0000175	Cleft palate
OMIM:305400	FGD1	2245	HP:0000431	Wide nasal bridge
OMIM:305400	FGD1	2245	HP:0000954	Single transverse palmar crease
OMIM:305400	FGD1	2245	HP:0001249	Intellectual disability
OMIM:305400	FGD1	2245	HP:0000486	Strabismus
OMIM:305400	FGD1	2245	HP:0001159	Syndactyly
OMIM:305400	FGD1	2245	HP:0003311	Hypoplasia of the odontoid process
OMIM:305400	FGD1	2245	HP:0001419	X-linked recessive inheritance
OMIM:305400	FGD1	2245	HP:0000049	Shawl scrotum
OMIM:305400	FGD1	2245	HP:0000540	Hypermetropia
OMIM:305400	FGD1	2245	HP:0000028	Cryptorchidism
OMIM:305400	FGD1	2245	HP:0000470	Short neck
OMIM:114835	CES1	1066	HP:0000006	Autosomal dominant inheritance
OMIM:114835	CES1	1066	HP:0001370	Rheumatoid arthritis
OMIM:114835	CES1	1066	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:114835	CES1	1066	HP:0002665	Lymphoma
OMIM:114835	CES1	1066	HP:0005550	Chronic lymphatic leukemia
OMIM:614037	LTC4S	4056	HP:0000252	Microcephaly
OMIM:614037	LTC4S	4056	HP:0001252	Muscular hypotonia
OMIM:614037	LTC4S	4056	HP:0001263	Global developmental delay
OMIM:614037	LTC4S	4056	HP:0001531	Failure to thrive in infancy
OMIM:614037	LTC4S	4056	HP:0000007	Autosomal recessive inheritance
OMIM:614037	LTC4S	4056	HP:0001522	Death in infancy
OMIM:615434	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:615434	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:615434	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:615434	RLBP1	6017	HP:0001696	Situs inversus totalis
OMIM:615434	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:615434	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:615434	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:615434	SPATA7	55812	HP:0001696	Situs inversus totalis
OMIM:615434	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:615434	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615434	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:615434	ARL6	84100	HP:0001696	Situs inversus totalis
OMIM:615434	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:615434	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:615434	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:615434	CERKL	375298	HP:0001696	Situs inversus totalis
OMIM:615434	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:615434	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:615434	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:615434	PRPF31	26121	HP:0001696	Situs inversus totalis
OMIM:615434	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:615434	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615434	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:615434	TTC8	123016	HP:0001696	Situs inversus totalis
OMIM:615434	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:615434	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:615434	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:615434	PROM1	8842	HP:0001696	Situs inversus totalis
OMIM:615434	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:615434	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:615434	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:615434	LRAT	9227	HP:0001696	Situs inversus totalis
OMIM:615434	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:615434	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:615434	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:615434	IFT140	9742	HP:0001696	Situs inversus totalis
OMIM:615434	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:615434	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:615434	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:615434	BEST1	7439	HP:0001696	Situs inversus totalis
OMIM:615434	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:615434	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:615434	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:615434	NEK2	4751	HP:0001696	Situs inversus totalis
OMIM:615434	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:615434	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:615434	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:615434	ARL2BP	23568	HP:0001696	Situs inversus totalis
OMIM:615434	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:615434	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:615434	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:615434	NR2E3	10002	HP:0001696	Situs inversus totalis
OMIM:615434	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:615434	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:615434	EYS	346007	HP:0000543	Optic disc pallor
OMIM:615434	EYS	346007	HP:0001696	Situs inversus totalis
OMIM:615434	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:615434	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:615434	MAK	4117	HP:0000543	Optic disc pallor
OMIM:615434	MAK	4117	HP:0001696	Situs inversus totalis
OMIM:615434	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:615434	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:615434	SAG	6295	HP:0000543	Optic disc pallor
OMIM:615434	SAG	6295	HP:0001696	Situs inversus totalis
OMIM:615434	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:615434	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:615434	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:615434	ABCA4	24	HP:0001696	Situs inversus totalis
OMIM:615434	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:615434	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:615434	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:615434	PDE6A	5145	HP:0001696	Situs inversus totalis
OMIM:615434	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:615434	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:615434	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:615434	PDE6G	5148	HP:0001696	Situs inversus totalis
OMIM:615434	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:615434	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:615434	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:615434	IMPDH1	3614	HP:0001696	Situs inversus totalis
OMIM:615434	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615434	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:615434	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:615434	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:615434	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:615434	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:615434	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:615434	GUCA1B	2979	HP:0001696	Situs inversus totalis
OMIM:615434	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:615434	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:615434	NRL	4901	HP:0000543	Optic disc pallor
OMIM:615434	NRL	4901	HP:0001696	Situs inversus totalis
OMIM:615434	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:615434	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:615434	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:615434	PDE6B	5158	HP:0001696	Situs inversus totalis
OMIM:615434	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:615434	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:615434	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:615434	KLHL7	55975	HP:0001696	Situs inversus totalis
OMIM:615434	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:615434	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:615434	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:615434	PRPF4	9128	HP:0001696	Situs inversus totalis
OMIM:615434	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:615434	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:615434	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:615434	PRPF3	9129	HP:0001696	Situs inversus totalis
OMIM:615434	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:615434	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:615434	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:615434	FAM161A	84140	HP:0001696	Situs inversus totalis
OMIM:615434	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:615434	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615434	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:615434	IFT172	26160	HP:0001696	Situs inversus totalis
OMIM:615434	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:615434	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:615434	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:615434	KIZ	55857	HP:0001696	Situs inversus totalis
OMIM:615434	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:615434	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:615434	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:615434	CDHR1	92211	HP:0001696	Situs inversus totalis
OMIM:615434	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:615434	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:615434	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:615434	ZNF408	79797	HP:0001696	Situs inversus totalis
OMIM:615434	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:615434	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:615434	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:615434	RBP3	5949	HP:0001696	Situs inversus totalis
OMIM:615434	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:615434	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:615434	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:615434	HGSNAT	138050	HP:0001696	Situs inversus totalis
OMIM:615434	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:615434	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:615434	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:615434	FSCN2	25794	HP:0001696	Situs inversus totalis
OMIM:615434	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:615434	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:615434	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:615434	PRCD	768206	HP:0001696	Situs inversus totalis
OMIM:615434	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:615434	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615434	BBS2	583	HP:0000543	Optic disc pallor
OMIM:615434	BBS2	583	HP:0001696	Situs inversus totalis
OMIM:615434	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:615434	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:615434	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:615434	RDH12	145226	HP:0001696	Situs inversus totalis
OMIM:615434	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:615434	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:615434	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:615434	PRPH2	5961	HP:0001696	Situs inversus totalis
OMIM:615434	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:615434	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:615434	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:615434	DHDDS	79947	HP:0001696	Situs inversus totalis
OMIM:615434	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:615434	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:615434	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:615434	ROM1	6094	HP:0001696	Situs inversus totalis
OMIM:615434	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:615434	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:615434	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:615434	C2ORF71	388939	HP:0001696	Situs inversus totalis
OMIM:615434	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:615434	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:615434	RP9	6100	HP:0000543	Optic disc pallor
OMIM:615434	RP9	6100	HP:0001696	Situs inversus totalis
OMIM:615434	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:615434	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:615434	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:615434	PRPF6	24148	HP:0001696	Situs inversus totalis
OMIM:615434	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:615434	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:615434	RP1	6101	HP:0000543	Optic disc pallor
OMIM:615434	RP1	6101	HP:0001696	Situs inversus totalis
OMIM:615434	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:615434	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:615434	RP2	6102	HP:0000543	Optic disc pallor
OMIM:615434	RP2	6102	HP:0001696	Situs inversus totalis
OMIM:615434	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615434	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:615434	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:615434	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:615434	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:615434	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:615434	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:615434	SEMA4A	64218	HP:0001696	Situs inversus totalis
OMIM:615434	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:615434	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:615434	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:615434	C8ORF37	157657	HP:0001696	Situs inversus totalis
OMIM:615434	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:615434	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:615434	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:615434	IDH3B	3420	HP:0001696	Situs inversus totalis
OMIM:615434	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:615434	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:615434	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:615434	MERTK	10461	HP:0001696	Situs inversus totalis
OMIM:615434	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:615434	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:615434	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:615434	PRPF8	10594	HP:0001696	Situs inversus totalis
OMIM:615434	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:615434	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:615434	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:615434	TOPORS	10210	HP:0001696	Situs inversus totalis
OMIM:615434	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:615434	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:615434	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:615434	USH2A	7399	HP:0001696	Situs inversus totalis
OMIM:615434	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:615434	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:615434	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:615434	RPE65	6121	HP:0001696	Situs inversus totalis
OMIM:615434	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:615434	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:615434	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:615434	CLRN1	7401	HP:0001696	Situs inversus totalis
OMIM:615434	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:615434	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:615434	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:615434	CNGB1	1258	HP:0001696	Situs inversus totalis
OMIM:615434	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:615434	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:615434	RGR	5995	HP:0000543	Optic disc pallor
OMIM:615434	RGR	5995	HP:0001696	Situs inversus totalis
OMIM:615434	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:615434	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:615434	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:615434	CNGA1	1259	HP:0001696	Situs inversus totalis
OMIM:615434	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:615434	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:615434	TUB	7275	HP:0000543	Optic disc pallor
OMIM:615434	TUB	7275	HP:0001696	Situs inversus totalis
OMIM:615434	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:615434	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:615434	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:615434	SNRNP200	23020	HP:0001696	Situs inversus totalis
OMIM:615434	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:615434	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:615434	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:615434	SLC7A14	57709	HP:0001696	Situs inversus totalis
OMIM:615434	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:615434	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:615434	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:615434	TULP1	7287	HP:0001696	Situs inversus totalis
OMIM:615434	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:615434	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:615434	RHO	6010	HP:0000543	Optic disc pallor
OMIM:615434	RHO	6010	HP:0001696	Situs inversus totalis
OMIM:615434	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:615434	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:615434	CA4	762	HP:0000543	Optic disc pallor
OMIM:615434	CA4	762	HP:0001696	Situs inversus totalis
OMIM:615434	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:615434	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:615434	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:615434	CRB1	23418	HP:0001696	Situs inversus totalis
OMIM:615434	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:615434	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:615434	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:615434	IMPG2	50939	HP:0001696	Situs inversus totalis
OMIM:615434	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:615434	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:615434	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:615434	ZNF513	130557	HP:0001696	Situs inversus totalis
OMIM:615434	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:615434	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:615434	CRX	1406	HP:0000543	Optic disc pallor
OMIM:615434	CRX	1406	HP:0001696	Situs inversus totalis
OMIM:232500	GBE1	2632	HP:0001252	Muscular hypotonia
OMIM:232500	GBE1	2632	HP:0001394	Cirrhosis
OMIM:232500	GBE1	2632	HP:0001409	Portal hypertension
OMIM:232500	GBE1	2632	HP:0001561	Polyhydramnios
OMIM:232500	GBE1	2632	HP:0000007	Autosomal recessive inheritance
OMIM:232500	GBE1	2632	HP:0001508	Failure to thrive
OMIM:232500	GBE1	2632	HP:0001399	Hepatic failure
OMIM:232500	GBE1	2632	HP:0000969	Edema
OMIM:232500	GBE1	2632	HP:0001558	Decreased fetal movement
OMIM:232500	GBE1	2632	HP:0001315	Reduced tendon reflexes
OMIM:232500	GBE1	2632	HP:0001789	Hydrops fetalis
OMIM:232500	GBE1	2632	HP:0003202	Skeletal muscle atrophy
OMIM:232500	GBE1	2632	HP:0001541	Ascites
OMIM:232500	GBE1	2632	HP:0001638	Cardiomyopathy
OMIM:232500	GBE1	2632	HP:0002804	Arthrogryposis multiplex congenita
OMIM:232500	GBE1	2632	HP:0001324	Muscle weakness
OMIM:232500	GBE1	2632	HP:0001433	Hepatosplenomegaly
OMIM:200400	NOS1	4842	HP:0001097	Keratoconjunctivitis sicca
OMIM:200400	NOS1	4842	HP:0002571	Achalasia
OMIM:200400	NOS1	4842	HP:0000007	Autosomal recessive inheritance
OMIM:200400	NOS1	4842	HP:0000217	Xerostomia
OMIM:200400	NOS1	4842	HP:0001370	Rheumatoid arthritis
OMIM:200400	HLA-DQA1	3117	HP:0001097	Keratoconjunctivitis sicca
OMIM:200400	HLA-DQA1	3117	HP:0002571	Achalasia
OMIM:200400	HLA-DQA1	3117	HP:0000007	Autosomal recessive inheritance
OMIM:200400	HLA-DQA1	3117	HP:0000217	Xerostomia
OMIM:200400	HLA-DQA1	3117	HP:0001370	Rheumatoid arthritis
OMIM:200400	HLA-DQB1	3119	HP:0001097	Keratoconjunctivitis sicca
OMIM:200400	HLA-DQB1	3119	HP:0002571	Achalasia
OMIM:200400	HLA-DQB1	3119	HP:0000007	Autosomal recessive inheritance
OMIM:200400	HLA-DQB1	3119	HP:0000217	Xerostomia
OMIM:200400	HLA-DQB1	3119	HP:0001370	Rheumatoid arthritis
OMIM:248250	CLDN16	10686	HP:0000007	Autosomal recessive inheritance
OMIM:248250	CLDN16	10686	HP:0000486	Strabismus
OMIM:248250	CLDN16	10686	HP:0002027	Abdominal pain
OMIM:248250	CLDN16	10686	HP:0001508	Failure to thrive
OMIM:248250	CLDN16	10686	HP:0008872	Feeding difficulties in infancy
OMIM:248250	CLDN16	10686	HP:0000790	Hematuria
OMIM:248250	CLDN16	10686	HP:0003621	Juvenile onset
OMIM:248250	CLDN16	10686	HP:0000121	Nephrocalcinosis
OMIM:248250	CLDN16	10686	HP:0000010	Recurrent urinary tract infections
OMIM:248250	CLDN16	10686	HP:0001250	Seizures
OMIM:248250	CLDN16	10686	HP:0012622	Chronic kidney disease
OMIM:248250	CLDN16	10686	HP:0001281	Tetany
OMIM:248250	CLDN16	10686	HP:0000545	Myopia
OMIM:248250	CLDN16	10686	HP:0000787	Nephrolithiasis
OMIM:248250	CLDN16	10686	HP:0002149	Hyperuricemia
OMIM:248250	CLDN16	10686	HP:0000483	Astigmatism
OMIM:248250	CLDN16	10686	HP:0005567	Renal magnesium wasting
OMIM:248250	CLDN16	10686	HP:0002150	Hypercalciuria
OMIM:248250	CLDN16	10686	HP:0000540	Hypermetropia
OMIM:248250	CLDN16	10686	HP:0000639	Nystagmus
OMIM:615108	PTEN	5728	HP:0010609	Skin tags
OMIM:615108	PTEN	5728	HP:0000365	Hearing impairment
OMIM:615108	PTEN	5728	HP:0001250	Seizures
OMIM:615108	PTEN	5728	HP:0001102	Angioid streaks of the retina
OMIM:615108	PTEN	5728	HP:0002253	Colonic diverticula
OMIM:615108	PTEN	5728	HP:0000836	Hyperthyroidism
OMIM:615108	PTEN	5728	HP:0000160	Narrow mouth
OMIM:615108	PTEN	5728	HP:0000138	Ovarian cyst
OMIM:615108	PTEN	5728	HP:0000327	Hypoplasia of the maxilla
OMIM:615108	PTEN	5728	HP:0002808	Kyphosis
OMIM:615108	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:615108	PTEN	5728	HP:0000853	Goiter
OMIM:615108	PTEN	5728	HP:0000518	Cataract
OMIM:615108	PTEN	5728	HP:0100646	Thyroiditis
OMIM:615108	PTEN	5728	HP:0000347	Micrognathia
OMIM:615108	PTEN	5728	HP:0000218	High palate
OMIM:615108	PTEN	5728	HP:0004481	Progressive macrocephaly
OMIM:615108	PTEN	5728	HP:0002650	Scoliosis
OMIM:615108	PTEN	5728	HP:0001249	Intellectual disability
OMIM:615108	PTEN	5728	HP:0001256	Intellectual disability, mild
OMIM:615108	PTEN	5728	HP:0002858	Meningioma
OMIM:615108	PTEN	5728	HP:0003581	Adult onset
OMIM:615108	PTEN	5728	HP:0000545	Myopia
OMIM:615108	PTEN	5728	HP:0001626	Abnormality of the cardiovascular system
OMIM:615108	PTEN	5728	HP:0000767	Pectus excavatum
OMIM:615108	PTEN	5728	HP:0003002	Breast carcinoma
OMIM:615108	PTEN	5728	HP:0000821	Hypothyroidism
OMIM:615108	KLLN	100144748	HP:0010609	Skin tags
OMIM:615108	KLLN	100144748	HP:0000365	Hearing impairment
OMIM:615108	KLLN	100144748	HP:0001250	Seizures
OMIM:615108	KLLN	100144748	HP:0001102	Angioid streaks of the retina
OMIM:615108	KLLN	100144748	HP:0002253	Colonic diverticula
OMIM:615108	KLLN	100144748	HP:0000836	Hyperthyroidism
OMIM:615108	KLLN	100144748	HP:0000160	Narrow mouth
OMIM:615108	KLLN	100144748	HP:0000138	Ovarian cyst
OMIM:615108	KLLN	100144748	HP:0000327	Hypoplasia of the maxilla
OMIM:615108	KLLN	100144748	HP:0002808	Kyphosis
OMIM:615108	KLLN	100144748	HP:0000006	Autosomal dominant inheritance
OMIM:615108	KLLN	100144748	HP:0000853	Goiter
OMIM:615108	KLLN	100144748	HP:0000518	Cataract
OMIM:615108	KLLN	100144748	HP:0100646	Thyroiditis
OMIM:615108	KLLN	100144748	HP:0000347	Micrognathia
OMIM:615108	KLLN	100144748	HP:0000218	High palate
OMIM:615108	KLLN	100144748	HP:0004481	Progressive macrocephaly
OMIM:615108	KLLN	100144748	HP:0002650	Scoliosis
OMIM:615108	KLLN	100144748	HP:0001249	Intellectual disability
OMIM:615108	KLLN	100144748	HP:0001256	Intellectual disability, mild
OMIM:615108	KLLN	100144748	HP:0002858	Meningioma
OMIM:615108	KLLN	100144748	HP:0003581	Adult onset
OMIM:615108	KLLN	100144748	HP:0000545	Myopia
OMIM:615108	KLLN	100144748	HP:0001626	Abnormality of the cardiovascular system
OMIM:615108	KLLN	100144748	HP:0000767	Pectus excavatum
OMIM:615108	KLLN	100144748	HP:0003002	Breast carcinoma
OMIM:615108	KLLN	100144748	HP:0000821	Hypothyroidism
OMIM:615108	SDHB	6390	HP:0010609	Skin tags
OMIM:615108	SDHB	6390	HP:0000365	Hearing impairment
OMIM:615108	SDHB	6390	HP:0001250	Seizures
OMIM:615108	SDHB	6390	HP:0001102	Angioid streaks of the retina
OMIM:615108	SDHB	6390	HP:0002253	Colonic diverticula
OMIM:615108	SDHB	6390	HP:0000836	Hyperthyroidism
OMIM:615108	SDHB	6390	HP:0000160	Narrow mouth
OMIM:615108	SDHB	6390	HP:0000138	Ovarian cyst
OMIM:615108	SDHB	6390	HP:0000327	Hypoplasia of the maxilla
OMIM:615108	SDHB	6390	HP:0002808	Kyphosis
OMIM:615108	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:615108	SDHB	6390	HP:0000853	Goiter
OMIM:615108	SDHB	6390	HP:0000518	Cataract
OMIM:615108	SDHB	6390	HP:0100646	Thyroiditis
OMIM:615108	SDHB	6390	HP:0000347	Micrognathia
OMIM:615108	SDHB	6390	HP:0000218	High palate
OMIM:615108	SDHB	6390	HP:0004481	Progressive macrocephaly
OMIM:615108	SDHB	6390	HP:0002650	Scoliosis
OMIM:615108	SDHB	6390	HP:0001249	Intellectual disability
OMIM:615108	SDHB	6390	HP:0001256	Intellectual disability, mild
OMIM:615108	SDHB	6390	HP:0002858	Meningioma
OMIM:615108	SDHB	6390	HP:0003581	Adult onset
OMIM:615108	SDHB	6390	HP:0000545	Myopia
OMIM:615108	SDHB	6390	HP:0001626	Abnormality of the cardiovascular system
OMIM:615108	SDHB	6390	HP:0000767	Pectus excavatum
OMIM:615108	SDHB	6390	HP:0003002	Breast carcinoma
OMIM:615108	SDHB	6390	HP:0000821	Hypothyroidism
OMIM:615108	SDHC	6391	HP:0010609	Skin tags
OMIM:615108	SDHC	6391	HP:0000365	Hearing impairment
OMIM:615108	SDHC	6391	HP:0001250	Seizures
OMIM:615108	SDHC	6391	HP:0001102	Angioid streaks of the retina
OMIM:615108	SDHC	6391	HP:0002253	Colonic diverticula
OMIM:615108	SDHC	6391	HP:0000836	Hyperthyroidism
OMIM:615108	SDHC	6391	HP:0000160	Narrow mouth
OMIM:615108	SDHC	6391	HP:0000138	Ovarian cyst
OMIM:615108	SDHC	6391	HP:0000327	Hypoplasia of the maxilla
OMIM:615108	SDHC	6391	HP:0002808	Kyphosis
OMIM:615108	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:615108	SDHC	6391	HP:0000853	Goiter
OMIM:615108	SDHC	6391	HP:0000518	Cataract
OMIM:615108	SDHC	6391	HP:0100646	Thyroiditis
OMIM:615108	SDHC	6391	HP:0000347	Micrognathia
OMIM:615108	SDHC	6391	HP:0000218	High palate
OMIM:615108	SDHC	6391	HP:0004481	Progressive macrocephaly
OMIM:615108	SDHC	6391	HP:0002650	Scoliosis
OMIM:615108	SDHC	6391	HP:0001249	Intellectual disability
OMIM:615108	SDHC	6391	HP:0001256	Intellectual disability, mild
OMIM:615108	SDHC	6391	HP:0002858	Meningioma
OMIM:615108	SDHC	6391	HP:0003581	Adult onset
OMIM:615108	SDHC	6391	HP:0000545	Myopia
OMIM:615108	SDHC	6391	HP:0001626	Abnormality of the cardiovascular system
OMIM:615108	SDHC	6391	HP:0000767	Pectus excavatum
OMIM:615108	SDHC	6391	HP:0003002	Breast carcinoma
OMIM:615108	SDHC	6391	HP:0000821	Hypothyroidism
OMIM:615108	SDHD	6392	HP:0010609	Skin tags
OMIM:615108	SDHD	6392	HP:0000365	Hearing impairment
OMIM:615108	SDHD	6392	HP:0001250	Seizures
OMIM:615108	SDHD	6392	HP:0001102	Angioid streaks of the retina
OMIM:615108	SDHD	6392	HP:0002253	Colonic diverticula
OMIM:615108	SDHD	6392	HP:0000836	Hyperthyroidism
OMIM:615108	SDHD	6392	HP:0000160	Narrow mouth
OMIM:615108	SDHD	6392	HP:0000138	Ovarian cyst
OMIM:615108	SDHD	6392	HP:0000327	Hypoplasia of the maxilla
OMIM:615108	SDHD	6392	HP:0002808	Kyphosis
OMIM:615108	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:615108	SDHD	6392	HP:0000853	Goiter
OMIM:615108	SDHD	6392	HP:0000518	Cataract
OMIM:615108	SDHD	6392	HP:0100646	Thyroiditis
OMIM:615108	SDHD	6392	HP:0000347	Micrognathia
OMIM:615108	SDHD	6392	HP:0000218	High palate
OMIM:615108	SDHD	6392	HP:0004481	Progressive macrocephaly
OMIM:615108	SDHD	6392	HP:0002650	Scoliosis
OMIM:615108	SDHD	6392	HP:0001249	Intellectual disability
OMIM:615108	SDHD	6392	HP:0001256	Intellectual disability, mild
OMIM:615108	SDHD	6392	HP:0002858	Meningioma
OMIM:615108	SDHD	6392	HP:0003581	Adult onset
OMIM:615108	SDHD	6392	HP:0000545	Myopia
OMIM:615108	SDHD	6392	HP:0001626	Abnormality of the cardiovascular system
OMIM:615108	SDHD	6392	HP:0000767	Pectus excavatum
OMIM:615108	SDHD	6392	HP:0003002	Breast carcinoma
OMIM:615108	SDHD	6392	HP:0000821	Hypothyroidism
OMIM:615108	PIK3CA	5290	HP:0010609	Skin tags
OMIM:615108	PIK3CA	5290	HP:0000365	Hearing impairment
OMIM:615108	PIK3CA	5290	HP:0001250	Seizures
OMIM:615108	PIK3CA	5290	HP:0001102	Angioid streaks of the retina
OMIM:615108	PIK3CA	5290	HP:0002253	Colonic diverticula
OMIM:615108	PIK3CA	5290	HP:0000836	Hyperthyroidism
OMIM:615108	PIK3CA	5290	HP:0000160	Narrow mouth
OMIM:615108	PIK3CA	5290	HP:0000138	Ovarian cyst
OMIM:615108	PIK3CA	5290	HP:0000327	Hypoplasia of the maxilla
OMIM:615108	PIK3CA	5290	HP:0002808	Kyphosis
OMIM:615108	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:615108	PIK3CA	5290	HP:0000853	Goiter
OMIM:615108	PIK3CA	5290	HP:0000518	Cataract
OMIM:615108	PIK3CA	5290	HP:0100646	Thyroiditis
OMIM:615108	PIK3CA	5290	HP:0000347	Micrognathia
OMIM:615108	PIK3CA	5290	HP:0000218	High palate
OMIM:615108	PIK3CA	5290	HP:0004481	Progressive macrocephaly
OMIM:615108	PIK3CA	5290	HP:0002650	Scoliosis
OMIM:615108	PIK3CA	5290	HP:0001249	Intellectual disability
OMIM:615108	PIK3CA	5290	HP:0001256	Intellectual disability, mild
OMIM:615108	PIK3CA	5290	HP:0002858	Meningioma
OMIM:615108	PIK3CA	5290	HP:0003581	Adult onset
OMIM:615108	PIK3CA	5290	HP:0000545	Myopia
OMIM:615108	PIK3CA	5290	HP:0001626	Abnormality of the cardiovascular system
OMIM:615108	PIK3CA	5290	HP:0000767	Pectus excavatum
OMIM:615108	PIK3CA	5290	HP:0003002	Breast carcinoma
OMIM:615108	PIK3CA	5290	HP:0000821	Hypothyroidism
OMIM:615108	AKT1	207	HP:0010609	Skin tags
OMIM:615108	AKT1	207	HP:0000365	Hearing impairment
OMIM:615108	AKT1	207	HP:0001250	Seizures
OMIM:615108	AKT1	207	HP:0001102	Angioid streaks of the retina
OMIM:615108	AKT1	207	HP:0002253	Colonic diverticula
OMIM:615108	AKT1	207	HP:0000836	Hyperthyroidism
OMIM:615108	AKT1	207	HP:0000160	Narrow mouth
OMIM:615108	AKT1	207	HP:0000138	Ovarian cyst
OMIM:615108	AKT1	207	HP:0000327	Hypoplasia of the maxilla
OMIM:615108	AKT1	207	HP:0002808	Kyphosis
OMIM:615108	AKT1	207	HP:0000006	Autosomal dominant inheritance
OMIM:615108	AKT1	207	HP:0000853	Goiter
OMIM:615108	AKT1	207	HP:0000518	Cataract
OMIM:615108	AKT1	207	HP:0100646	Thyroiditis
OMIM:615108	AKT1	207	HP:0000347	Micrognathia
OMIM:615108	AKT1	207	HP:0000218	High palate
OMIM:615108	AKT1	207	HP:0004481	Progressive macrocephaly
OMIM:615108	AKT1	207	HP:0002650	Scoliosis
OMIM:615108	AKT1	207	HP:0001249	Intellectual disability
OMIM:615108	AKT1	207	HP:0001256	Intellectual disability, mild
OMIM:615108	AKT1	207	HP:0002858	Meningioma
OMIM:615108	AKT1	207	HP:0003581	Adult onset
OMIM:615108	AKT1	207	HP:0000545	Myopia
OMIM:615108	AKT1	207	HP:0001626	Abnormality of the cardiovascular system
OMIM:615108	AKT1	207	HP:0000767	Pectus excavatum
OMIM:615108	AKT1	207	HP:0003002	Breast carcinoma
OMIM:615108	AKT1	207	HP:0000821	Hypothyroidism
OMIM:300895	MED12	9968	HP:0000448	Prominent nose
OMIM:300895	MED12	9968	HP:0000028	Cryptorchidism
OMIM:300895	MED12	9968	HP:0001382	Joint hypermobility
OMIM:300895	MED12	9968	HP:0001249	Intellectual disability
OMIM:300895	MED12	9968	HP:0000508	Ptosis
OMIM:300895	MED12	9968	HP:0001263	Global developmental delay
OMIM:300895	MED12	9968	HP:0011968	Feeding difficulties
OMIM:300895	MED12	9968	HP:0000280	Coarse facial features
OMIM:300895	MED12	9968	HP:0000343	Long philtrum
OMIM:300895	MED12	9968	HP:0000046	Scrotal hypoplasia
OMIM:300895	MED12	9968	HP:0000319	Smooth philtrum
OMIM:300895	MED12	9968	HP:0000414	Bulbous nose
OMIM:300895	MED12	9968	HP:0030084	Clinodactyly
OMIM:300895	MED12	9968	HP:0000347	Micrognathia
OMIM:300895	MED12	9968	HP:0000431	Wide nasal bridge
OMIM:300895	MED12	9968	HP:0000581	Blepharophimosis
OMIM:300895	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:300895	MED12	9968	HP:0005280	Depressed nasal bridge
OMIM:300895	MED12	9968	HP:0000160	Narrow mouth
OMIM:300895	MED12	9968	HP:0000233	Thin vermilion border
OMIM:300895	MED12	9968	HP:0000957	Cafe-au-lait spot
OMIM:300895	MED12	9968	HP:0000365	Hearing impairment
OMIM:300895	MED12	9968	HP:0004325	Decreased body weight
OMIM:616505	SLC25A46	91137	HP:0001265	Hyporeflexia
OMIM:616505	SLC25A46	91137	HP:0001761	Pes cavus
OMIM:616505	SLC25A46	91137	HP:0000648	Optic atrophy
OMIM:616505	SLC25A46	91137	HP:0001251	Ataxia
OMIM:616505	SLC25A46	91137	HP:0003376	Steppage gait
OMIM:616505	SLC25A46	91137	HP:0002936	Distal sensory impairment
OMIM:616505	SLC25A46	91137	HP:0003487	Babinski sign
OMIM:616505	SLC25A46	91137	HP:0000529	Progressive visual loss
OMIM:616505	SLC25A46	91137	HP:0001272	Cerebellar atrophy
OMIM:616505	SLC25A46	91137	HP:0001347	Hyperreflexia
OMIM:616505	MFN2	9927	HP:0001265	Hyporeflexia
OMIM:616505	MFN2	9927	HP:0001761	Pes cavus
OMIM:616505	MFN2	9927	HP:0000648	Optic atrophy
OMIM:616505	MFN2	9927	HP:0001251	Ataxia
OMIM:616505	MFN2	9927	HP:0003376	Steppage gait
OMIM:616505	MFN2	9927	HP:0002936	Distal sensory impairment
OMIM:616505	MFN2	9927	HP:0003487	Babinski sign
OMIM:616505	MFN2	9927	HP:0000529	Progressive visual loss
OMIM:616505	MFN2	9927	HP:0001272	Cerebellar atrophy
OMIM:616505	MFN2	9927	HP:0001347	Hyperreflexia
OMIM:300699	GRIA3	2892	HP:0001419	X-linked recessive inheritance
OMIM:300699	GRIA3	2892	HP:0000256	Macrocephaly
OMIM:300699	GRIA3	2892	HP:0000336	Prominent supraorbital ridges
OMIM:300699	GRIA3	2892	HP:0002460	Distal muscle weakness
OMIM:300699	GRIA3	2892	HP:0004322	Short stature
OMIM:300699	GRIA3	2892	HP:0000718	Aggressive behavior
OMIM:300699	GRIA3	2892	HP:0001250	Seizures
OMIM:300699	GRIA3	2892	HP:0001265	Hyporeflexia
OMIM:300699	GRIA3	2892	HP:0001249	Intellectual disability
OMIM:300699	GRIA3	2892	HP:0000248	Brachycephaly
OMIM:300699	GRIA3	2892	HP:0000490	Deeply set eye
OMIM:300699	GRIA3	2892	HP:0001336	Myoclonus
OMIM:300699	GRIA3	2892	HP:0000717	Autism
OMIM:193230	KCNJ13	3769	HP:0000006	Autosomal dominant inheritance
OMIM:193230	KCNJ13	3769	HP:0000518	Cataract
OMIM:193230	KCNJ13	3769	HP:0000655	Vitreoretinal degeneration
OMIM:216900	RPGR	6103	HP:0012047	Hemeralopia
OMIM:216900	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:216900	RPGR	6103	HP:0000618	Blindness
OMIM:216900	RPGR	6103	HP:0000613	Photophobia
OMIM:216900	RPGR	6103	HP:0000639	Nystagmus
OMIM:216900	CNGB3	54714	HP:0012047	Hemeralopia
OMIM:216900	CNGB3	54714	HP:0000007	Autosomal recessive inheritance
OMIM:216900	CNGB3	54714	HP:0000618	Blindness
OMIM:216900	CNGB3	54714	HP:0000613	Photophobia
OMIM:216900	CNGB3	54714	HP:0000639	Nystagmus
OMIM:216900	PDE6C	5146	HP:0012047	Hemeralopia
OMIM:216900	PDE6C	5146	HP:0000007	Autosomal recessive inheritance
OMIM:216900	PDE6C	5146	HP:0000618	Blindness
OMIM:216900	PDE6C	5146	HP:0000613	Photophobia
OMIM:216900	PDE6C	5146	HP:0000639	Nystagmus
OMIM:216900	GNAT2	2780	HP:0012047	Hemeralopia
OMIM:216900	GNAT2	2780	HP:0000007	Autosomal recessive inheritance
OMIM:216900	GNAT2	2780	HP:0000618	Blindness
OMIM:216900	GNAT2	2780	HP:0000613	Photophobia
OMIM:216900	GNAT2	2780	HP:0000639	Nystagmus
OMIM:216900	CNGA3	1261	HP:0012047	Hemeralopia
OMIM:216900	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:216900	CNGA3	1261	HP:0000618	Blindness
OMIM:216900	CNGA3	1261	HP:0000613	Photophobia
OMIM:216900	CNGA3	1261	HP:0000639	Nystagmus
OMIM:216900	PDE6H	5149	HP:0012047	Hemeralopia
OMIM:216900	PDE6H	5149	HP:0000007	Autosomal recessive inheritance
OMIM:216900	PDE6H	5149	HP:0000618	Blindness
OMIM:216900	PDE6H	5149	HP:0000613	Photophobia
OMIM:216900	PDE6H	5149	HP:0000639	Nystagmus
OMIM:216900	ATF6	22926	HP:0012047	Hemeralopia
OMIM:216900	ATF6	22926	HP:0000007	Autosomal recessive inheritance
OMIM:216900	ATF6	22926	HP:0000618	Blindness
OMIM:216900	ATF6	22926	HP:0000613	Photophobia
OMIM:216900	ATF6	22926	HP:0000639	Nystagmus
OMIM:615980	LIPE	3991	HP:0003119	Abnormality of lipid metabolism
OMIM:615980	LIPE	3991	HP:0003560	Muscular dystrophy
OMIM:615980	LIPE	3991	HP:0000855	Insulin resistance
OMIM:615980	LIPE	3991	HP:0001397	Hepatic steatosis
OMIM:615980	LIPE	3991	HP:0003236	Elevated serum creatine phosphokinase
OMIM:233420	SRY	6736	HP:0009714	Abnormality of the epididymis
OMIM:233420	SRY	6736	HP:0008668	Gonadal dysgenesis, male
OMIM:233420	SRY	6736	HP:0000150	Gonadoblastoma
OMIM:233420	SRY	6736	HP:0000786	Primary amenorrhea
OMIM:233420	SRY	6736	HP:0001425	Heterogeneous
OMIM:233420	SRY	6736	HP:0012245	Sex reversal
OMIM:233420	SRY	6736	HP:0000013	Hypoplasia of the uterus
OMIM:233420	SRY	6736	HP:0008697	Hypoplasia of the fallopian tube
OMIM:233420	SRY	6736	HP:0010464	Streak ovary
OMIM:233420	SRY	6736	HP:0000007	Autosomal recessive inheritance
OMIM:233420	DMRT1	1761	HP:0009714	Abnormality of the epididymis
OMIM:233420	DMRT1	1761	HP:0008668	Gonadal dysgenesis, male
OMIM:233420	DMRT1	1761	HP:0000150	Gonadoblastoma
OMIM:233420	DMRT1	1761	HP:0000786	Primary amenorrhea
OMIM:233420	DMRT1	1761	HP:0001425	Heterogeneous
OMIM:233420	DMRT1	1761	HP:0012245	Sex reversal
OMIM:233420	DMRT1	1761	HP:0000013	Hypoplasia of the uterus
OMIM:233420	DMRT1	1761	HP:0008697	Hypoplasia of the fallopian tube
OMIM:233420	DMRT1	1761	HP:0010464	Streak ovary
OMIM:233420	DMRT1	1761	HP:0000007	Autosomal recessive inheritance
OMIM:233420	NR5A1	2516	HP:0009714	Abnormality of the epididymis
OMIM:233420	NR5A1	2516	HP:0008668	Gonadal dysgenesis, male
OMIM:233420	NR5A1	2516	HP:0000150	Gonadoblastoma
OMIM:233420	NR5A1	2516	HP:0000786	Primary amenorrhea
OMIM:233420	NR5A1	2516	HP:0001425	Heterogeneous
OMIM:233420	NR5A1	2516	HP:0012245	Sex reversal
OMIM:233420	NR5A1	2516	HP:0000013	Hypoplasia of the uterus
OMIM:233420	NR5A1	2516	HP:0008697	Hypoplasia of the fallopian tube
OMIM:233420	NR5A1	2516	HP:0010464	Streak ovary
OMIM:233420	NR5A1	2516	HP:0000007	Autosomal recessive inheritance
OMIM:233420	SOX9	6662	HP:0009714	Abnormality of the epididymis
OMIM:233420	SOX9	6662	HP:0008668	Gonadal dysgenesis, male
OMIM:233420	SOX9	6662	HP:0000150	Gonadoblastoma
OMIM:233420	SOX9	6662	HP:0000786	Primary amenorrhea
OMIM:233420	SOX9	6662	HP:0001425	Heterogeneous
OMIM:233420	SOX9	6662	HP:0012245	Sex reversal
OMIM:233420	SOX9	6662	HP:0000013	Hypoplasia of the uterus
OMIM:233420	SOX9	6662	HP:0008697	Hypoplasia of the fallopian tube
OMIM:233420	SOX9	6662	HP:0010464	Streak ovary
OMIM:233420	SOX9	6662	HP:0000007	Autosomal recessive inheritance
OMIM:233420	MAP3K1	4214	HP:0009714	Abnormality of the epididymis
OMIM:233420	MAP3K1	4214	HP:0008668	Gonadal dysgenesis, male
OMIM:233420	MAP3K1	4214	HP:0000150	Gonadoblastoma
OMIM:233420	MAP3K1	4214	HP:0000786	Primary amenorrhea
OMIM:233420	MAP3K1	4214	HP:0001425	Heterogeneous
OMIM:233420	MAP3K1	4214	HP:0012245	Sex reversal
OMIM:233420	MAP3K1	4214	HP:0000013	Hypoplasia of the uterus
OMIM:233420	MAP3K1	4214	HP:0008697	Hypoplasia of the fallopian tube
OMIM:233420	MAP3K1	4214	HP:0010464	Streak ovary
OMIM:233420	MAP3K1	4214	HP:0000007	Autosomal recessive inheritance
OMIM:233420	CBX2	84733	HP:0009714	Abnormality of the epididymis
OMIM:233420	CBX2	84733	HP:0008668	Gonadal dysgenesis, male
OMIM:233420	CBX2	84733	HP:0000150	Gonadoblastoma
OMIM:233420	CBX2	84733	HP:0000786	Primary amenorrhea
OMIM:233420	CBX2	84733	HP:0001425	Heterogeneous
OMIM:233420	CBX2	84733	HP:0012245	Sex reversal
OMIM:233420	CBX2	84733	HP:0000013	Hypoplasia of the uterus
OMIM:233420	CBX2	84733	HP:0008697	Hypoplasia of the fallopian tube
OMIM:233420	CBX2	84733	HP:0010464	Streak ovary
OMIM:233420	CBX2	84733	HP:0000007	Autosomal recessive inheritance
OMIM:233420	DHH	50846	HP:0009714	Abnormality of the epididymis
OMIM:233420	DHH	50846	HP:0008668	Gonadal dysgenesis, male
OMIM:233420	DHH	50846	HP:0000150	Gonadoblastoma
OMIM:233420	DHH	50846	HP:0000786	Primary amenorrhea
OMIM:233420	DHH	50846	HP:0001425	Heterogeneous
OMIM:233420	DHH	50846	HP:0012245	Sex reversal
OMIM:233420	DHH	50846	HP:0000013	Hypoplasia of the uterus
OMIM:233420	DHH	50846	HP:0008697	Hypoplasia of the fallopian tube
OMIM:233420	DHH	50846	HP:0010464	Streak ovary
OMIM:233420	DHH	50846	HP:0000007	Autosomal recessive inheritance
OMIM:233420	NR0B1	190	HP:0009714	Abnormality of the epididymis
OMIM:233420	NR0B1	190	HP:0008668	Gonadal dysgenesis, male
OMIM:233420	NR0B1	190	HP:0000150	Gonadoblastoma
OMIM:233420	NR0B1	190	HP:0000786	Primary amenorrhea
OMIM:233420	NR0B1	190	HP:0001425	Heterogeneous
OMIM:233420	NR0B1	190	HP:0012245	Sex reversal
OMIM:233420	NR0B1	190	HP:0000013	Hypoplasia of the uterus
OMIM:233420	NR0B1	190	HP:0008697	Hypoplasia of the fallopian tube
OMIM:233420	NR0B1	190	HP:0010464	Streak ovary
OMIM:233420	NR0B1	190	HP:0000007	Autosomal recessive inheritance
OMIM:138800	DICER1	23405	HP:0002895	Papillary thyroid carcinoma
OMIM:138800	DICER1	23405	HP:0000006	Autosomal dominant inheritance
OMIM:616028	NOTCH1	4851	HP:0001667	Right ventricular hypertrophy
OMIM:616028	NOTCH1	4851	HP:0001057	Aplasia cutis congenita
OMIM:616028	NOTCH1	4851	HP:0001156	Brachydactyly syndrome
OMIM:616028	NOTCH1	4851	HP:0001250	Seizures
OMIM:616028	NOTCH1	4851	HP:0001159	Syndactyly
OMIM:616028	NOTCH1	4851	HP:0001744	Splenomegaly
OMIM:616028	NOTCH1	4851	HP:0000023	Inguinal hernia
OMIM:616028	NOTCH1	4851	HP:0001537	Umbilical hernia
OMIM:616028	NOTCH1	4851	HP:0001642	Pulmonic stenosis
OMIM:616028	DOCK6	57572	HP:0001667	Right ventricular hypertrophy
OMIM:616028	DOCK6	57572	HP:0001057	Aplasia cutis congenita
OMIM:616028	DOCK6	57572	HP:0001156	Brachydactyly syndrome
OMIM:616028	DOCK6	57572	HP:0001250	Seizures
OMIM:616028	DOCK6	57572	HP:0001159	Syndactyly
OMIM:616028	DOCK6	57572	HP:0001744	Splenomegaly
OMIM:616028	DOCK6	57572	HP:0000023	Inguinal hernia
OMIM:616028	DOCK6	57572	HP:0001537	Umbilical hernia
OMIM:616028	DOCK6	57572	HP:0001642	Pulmonic stenosis
OMIM:616028	EOGT	285203	HP:0001667	Right ventricular hypertrophy
OMIM:616028	EOGT	285203	HP:0001057	Aplasia cutis congenita
OMIM:616028	EOGT	285203	HP:0001156	Brachydactyly syndrome
OMIM:616028	EOGT	285203	HP:0001250	Seizures
OMIM:616028	EOGT	285203	HP:0001159	Syndactyly
OMIM:616028	EOGT	285203	HP:0001744	Splenomegaly
OMIM:616028	EOGT	285203	HP:0000023	Inguinal hernia
OMIM:616028	EOGT	285203	HP:0001537	Umbilical hernia
OMIM:616028	EOGT	285203	HP:0001642	Pulmonic stenosis
OMIM:616028	DLL4	54567	HP:0001667	Right ventricular hypertrophy
OMIM:616028	DLL4	54567	HP:0001057	Aplasia cutis congenita
OMIM:616028	DLL4	54567	HP:0001156	Brachydactyly syndrome
OMIM:616028	DLL4	54567	HP:0001250	Seizures
OMIM:616028	DLL4	54567	HP:0001159	Syndactyly
OMIM:616028	DLL4	54567	HP:0001744	Splenomegaly
OMIM:616028	DLL4	54567	HP:0000023	Inguinal hernia
OMIM:616028	DLL4	54567	HP:0001537	Umbilical hernia
OMIM:616028	DLL4	54567	HP:0001642	Pulmonic stenosis
OMIM:616028	ARHGAP31	57514	HP:0001667	Right ventricular hypertrophy
OMIM:616028	ARHGAP31	57514	HP:0001057	Aplasia cutis congenita
OMIM:616028	ARHGAP31	57514	HP:0001156	Brachydactyly syndrome
OMIM:616028	ARHGAP31	57514	HP:0001250	Seizures
OMIM:616028	ARHGAP31	57514	HP:0001159	Syndactyly
OMIM:616028	ARHGAP31	57514	HP:0001744	Splenomegaly
OMIM:616028	ARHGAP31	57514	HP:0000023	Inguinal hernia
OMIM:616028	ARHGAP31	57514	HP:0001537	Umbilical hernia
OMIM:616028	ARHGAP31	57514	HP:0001642	Pulmonic stenosis
OMIM:616028	RBPJ	3516	HP:0001667	Right ventricular hypertrophy
OMIM:616028	RBPJ	3516	HP:0001057	Aplasia cutis congenita
OMIM:616028	RBPJ	3516	HP:0001156	Brachydactyly syndrome
OMIM:616028	RBPJ	3516	HP:0001250	Seizures
OMIM:616028	RBPJ	3516	HP:0001159	Syndactyly
OMIM:616028	RBPJ	3516	HP:0001744	Splenomegaly
OMIM:616028	RBPJ	3516	HP:0000023	Inguinal hernia
OMIM:616028	RBPJ	3516	HP:0001537	Umbilical hernia
OMIM:616028	RBPJ	3516	HP:0001642	Pulmonic stenosis
OMIM:605726	RAX2	84839	HP:0001765	Hammertoe
OMIM:605726	RAX2	84839	HP:0009027	Foot dorsiflexor weakness
OMIM:605726	RAX2	84839	HP:0007269	Spinal muscular atrophy
OMIM:605726	RAX2	84839	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605726	RAX2	84839	HP:0000007	Autosomal recessive inheritance
OMIM:605726	RAX2	84839	HP:0002460	Distal muscle weakness
OMIM:605726	RAX2	84839	HP:0001171	Split hand
OMIM:605726	RAX2	84839	HP:0003676	Progressive
OMIM:605726	RAX2	84839	HP:0001265	Hyporeflexia
OMIM:605726	RAX2	84839	HP:0001761	Pes cavus
OMIM:605726	RAX2	84839	HP:0003693	Distal amyotrophy
OMIM:605726	RAX2	84839	HP:0003487	Babinski sign
OMIM:605726	SIGMAR1	10280	HP:0001765	Hammertoe
OMIM:605726	SIGMAR1	10280	HP:0009027	Foot dorsiflexor weakness
OMIM:605726	SIGMAR1	10280	HP:0007269	Spinal muscular atrophy
OMIM:605726	SIGMAR1	10280	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605726	SIGMAR1	10280	HP:0000007	Autosomal recessive inheritance
OMIM:605726	SIGMAR1	10280	HP:0002460	Distal muscle weakness
OMIM:605726	SIGMAR1	10280	HP:0001171	Split hand
OMIM:605726	SIGMAR1	10280	HP:0003676	Progressive
OMIM:605726	SIGMAR1	10280	HP:0001265	Hyporeflexia
OMIM:605726	SIGMAR1	10280	HP:0001761	Pes cavus
OMIM:605726	SIGMAR1	10280	HP:0003693	Distal amyotrophy
OMIM:605726	SIGMAR1	10280	HP:0003487	Babinski sign
OMIM:124200	ATP2A2	488	HP:0007302	Bipolar affective disorder
OMIM:124200	ATP2A2	488	HP:0000982	Palmoplantar keratoderma
OMIM:124200	ATP2A2	488	HP:0000989	Pruritus
OMIM:124200	ATP2A2	488	HP:0001034	Hypermelanotic macule
OMIM:124200	ATP2A2	488	HP:0001250	Seizures
OMIM:124200	ATP2A2	488	HP:0000006	Autosomal dominant inheritance
OMIM:124200	ATP2A2	488	HP:0001256	Intellectual disability, mild
OMIM:124200	ATP2A2	488	HP:0100753	Schizophrenia
OMIM:124200	ATP2A2	488	HP:0001597	Abnormality of the nail
OMIM:258315	GPC6	10082	HP:0100543	Cognitive impairment
OMIM:258315	GPC6	10082	HP:0005792	Short humerus
OMIM:258315	GPC6	10082	HP:0000463	Anteverted nares
OMIM:258315	GPC6	10082	HP:0001629	Ventricular septal defect
OMIM:258315	GPC6	10082	HP:0000368	Low-set, posteriorly rotated ears
OMIM:258315	GPC6	10082	HP:0000343	Long philtrum
OMIM:258315	GPC6	10082	HP:0000944	Abnormality of the metaphyses
OMIM:258315	GPC6	10082	HP:0002823	Abnormality of the femur
OMIM:258315	GPC6	10082	HP:0000028	Cryptorchidism
OMIM:258315	GPC6	10082	HP:0000470	Short neck
OMIM:258315	GPC6	10082	HP:0001028	Hemangioma
OMIM:258315	GPC6	10082	HP:0010880	Increased nuchal translucency
OMIM:258315	GPC6	10082	HP:0012368	Flat face
OMIM:258315	GPC6	10082	HP:0001537	Umbilical hernia
OMIM:258315	GPC6	10082	HP:0008800	Limited hip movement
OMIM:258315	GPC6	10082	HP:0004415	Pulmonary artery stenosis
OMIM:258315	GPC6	10082	HP:0000347	Micrognathia
OMIM:258315	GPC6	10082	HP:0003038	Fibular hypoplasia
OMIM:258315	GPC6	10082	HP:0008873	Disproportionate short-limb short stature
OMIM:258315	GPC6	10082	HP:0008905	Rhizomelia
OMIM:258315	GPC6	10082	HP:0005736	Short tibia
OMIM:258315	GPC6	10082	HP:0001631	Atria septal defect
OMIM:258315	GPC6	10082	HP:0002007	Frontal bossing
OMIM:258315	GPC6	10082	HP:0100790	Hernia
OMIM:258315	GPC6	10082	HP:0005280	Depressed nasal bridge
OMIM:258315	GPC6	10082	HP:0000286	Epicanthus
OMIM:258315	GPC6	10082	HP:0003196	Short nose
OMIM:258315	GPC6	10082	HP:0000007	Autosomal recessive inheritance
OMIM:258315	GPC6	10082	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:258315	GPC6	10082	HP:0001363	Craniosynostosis
OMIM:258315	GPC6	10082	HP:0000431	Wide nasal bridge
OMIM:258315	GPC6	10082	HP:0000581	Blepharophimosis
OMIM:258315	GPC6	10082	HP:0000272	Malar flattening
OMIM:258315	GPC6	10082	HP:0002983	Micromelia
OMIM:258315	GPC6	10082	HP:0003063	Abnormality of the humerus
OMIM:278700	XPA	7507	HP:0000491	Keratitis
OMIM:278700	XPA	7507	HP:0000613	Photophobia
OMIM:278700	XPA	7507	HP:0000407	Sensorineural hearing impairment
OMIM:278700	XPA	7507	HP:0001249	Intellectual disability
OMIM:278700	XPA	7507	HP:0001266	Choreoathetosis
OMIM:278700	XPA	7507	HP:0000007	Autosomal recessive inheritance
OMIM:278700	XPA	7507	HP:0001251	Ataxia
OMIM:278700	XPA	7507	HP:0001257	Spasticity
OMIM:278700	XPA	7507	HP:0000509	Conjunctivitis
OMIM:278700	XPA	7507	HP:0001009	Telangiectasia
OMIM:278700	XPA	7507	HP:0000992	Cutaneous photosensitivity
OMIM:278700	XPA	7507	HP:0001265	Hyporeflexia
OMIM:278700	XPA	7507	HP:0004334	Dermal atrophy
OMIM:278700	XPA	7507	HP:0000252	Microcephaly
OMIM:278700	XPA	7507	HP:0001268	Mental deterioration
OMIM:615518	UNC119	9094	HP:0000403	Recurrent otitis media
OMIM:615518	UNC119	9094	HP:0011108	Recurrent sinusitis
OMIM:615518	UNC119	9094	HP:0000006	Autosomal dominant inheritance
OMIM:615518	UNC119	9094	HP:0002721	Immunodeficiency
OMIM:193700	MYH3	4621	HP:0012385	Camptodactyly
OMIM:193700	MYH3	4621	HP:0008897	Postnatal growth retardation
OMIM:193700	MYH3	4621	HP:0003298	Spina bifida occulta
OMIM:193700	MYH3	4621	HP:0000023	Inguinal hernia
OMIM:193700	MYH3	4621	HP:0000431	Wide nasal bridge
OMIM:193700	MYH3	4621	HP:0002804	Arthrogryposis multiplex congenita
OMIM:193700	MYH3	4621	HP:0006380	Knee flexion contracture
OMIM:193700	MYH3	4621	HP:0012368	Flat face
OMIM:193700	MYH3	4621	HP:0000006	Autosomal dominant inheritance
OMIM:193700	MYH3	4621	HP:0001508	Failure to thrive
OMIM:193700	MYH3	4621	HP:0001181	Adducted thumb
OMIM:193700	MYH3	4621	HP:0001762	Talipes equinovarus
OMIM:193700	MYH3	4621	HP:0000508	Ptosis
OMIM:193700	MYH3	4621	HP:0001838	Rocker bottom foot
OMIM:193700	MYH3	4621	HP:0002827	Hip dislocation
OMIM:193700	MYH3	4621	HP:0001249	Intellectual disability
OMIM:193700	MYH3	4621	HP:0000951	Abnormality of the skin
OMIM:193700	MYH3	4621	HP:0003273	Hip contracture
OMIM:193700	MYH3	4621	HP:0000430	Underdeveloped nasal alae
OMIM:193700	MYH3	4621	HP:0000160	Narrow mouth
OMIM:193700	MYH3	4621	HP:0000490	Deeply set eye
OMIM:193700	MYH3	4621	HP:0000218	High palate
OMIM:193700	MYH3	4621	HP:0003196	Short nose
OMIM:193700	MYH3	4621	HP:0001611	Nasal speech
OMIM:193700	MYH3	4621	HP:0000470	Short neck
OMIM:193700	MYH3	4621	HP:0009473	Joint contracture of the hand
OMIM:193700	MYH3	4621	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:193700	MYH3	4621	HP:0000343	Long philtrum
OMIM:193700	MYH3	4621	HP:0002365	Hypoplasia of the brainstem
OMIM:193700	MYH3	4621	HP:0000028	Cryptorchidism
OMIM:193700	MYH3	4621	HP:0001324	Muscle weakness
OMIM:193700	MYH3	4621	HP:0001518	Small for gestational age
OMIM:193700	MYH3	4621	HP:0000581	Blepharophimosis
OMIM:193700	MYH3	4621	HP:0000486	Strabismus
OMIM:193700	MYH3	4621	HP:0001945	Fever
OMIM:193700	MYH3	4621	HP:0000298	Mask-like facies
OMIM:193700	MYH3	4621	HP:0001250	Seizures
OMIM:193700	MYH3	4621	HP:0002751	Kyphoscoliosis
OMIM:193700	MYH3	4621	HP:0000506	Telecanthus
OMIM:193700	MYH3	4621	HP:0006958	Abnormal auditory evoked potentials
OMIM:193700	MYH3	4621	HP:0000286	Epicanthus
OMIM:193700	MYH3	4621	HP:0000272	Malar flattening
OMIM:193700	MYH3	4621	HP:0000303	Mandibular prognathia
OMIM:193700	MYH3	4621	HP:0000007	Autosomal recessive inheritance
OMIM:193700	MYH3	4621	HP:0001272	Cerebellar atrophy
OMIM:193700	MYH3	4621	HP:0000252	Microcephaly
OMIM:193700	MYH3	4621	HP:0011220	Prominent forehead
OMIM:613723	PLEC	5339	HP:0000007	Autosomal recessive inheritance
OMIM:613723	PLEC	5339	HP:0002938	Lumbar hyperlordosis
OMIM:613723	PLEC	5339	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613723	PLEC	5339	HP:0003560	Muscular dystrophy
OMIM:613723	PLEC	5339	HP:0003202	Skeletal muscle atrophy
OMIM:613723	PLEC	5339	HP:0003678	Rapidly progressive
OMIM:613723	PLEC	5339	HP:0001270	Motor delay
OMIM:613723	PLEC	5339	HP:0003324	Generalized muscle weakness
OMIM:613723	PLEC	5339	HP:0003391	Gowers sign
OMIM:613723	PLEC	5339	HP:0001371	Flexion contracture
ORPHANET:1052	BUB3	9184	HP:0000340	Sloping forehead
ORPHANET:1052	BUB3	9184	HP:0000457	Depressed nasal ridge
ORPHANET:1052	BUB3	9184	HP:0001305	Dandy-Walker malformation
ORPHANET:1052	BUB3	9184	HP:0000821	Hypothyroidism
ORPHANET:1052	BUB3	9184	HP:0001000	Abnormality of skin pigmentation
ORPHANET:1052	BUB3	9184	HP:0000286	Epicanthus
ORPHANET:1052	BUB3	9184	HP:0000364	Hearing abnormality
ORPHANET:1052	BUB3	9184	HP:0000957	Cafe-au-lait spot
ORPHANET:1052	BUB3	9184	HP:0000325	Triangular face
ORPHANET:1052	BUB3	9184	HP:0001679	Abnormality of the aorta
ORPHANET:1052	BUB3	9184	HP:0002667	Nephroblastoma (Wilms tumor)
ORPHANET:1052	BUB3	9184	HP:0001250	Seizures
ORPHANET:1052	BUB3	9184	HP:0001252	Muscular hypotonia
ORPHANET:1052	BUB3	9184	HP:0003202	Skeletal muscle atrophy
ORPHANET:1052	BUB3	9184	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:1052	BUB3	9184	HP:0001631	Atria septal defect
ORPHANET:1052	BUB3	9184	HP:0010978	Abnormality of immune system physiology
ORPHANET:1052	BUB3	9184	HP:0002007	Frontal bossing
ORPHANET:1052	BUB3	9184	HP:0001511	Intrauterine growth retardation
ORPHANET:1052	BUB3	9184	HP:0002104	Apnea
ORPHANET:1052	BUB3	9184	HP:0004322	Short stature
ORPHANET:1052	BUB3	9184	HP:0000494	Downslanted palpebral fissures
ORPHANET:1052	BUB3	9184	HP:0007759	Opacification of the corneal stroma
ORPHANET:1052	BUB3	9184	HP:0000062	Ambiguous genitalia
ORPHANET:1052	BUB3	9184	HP:0000347	Micrognathia
ORPHANET:1052	BUB3	9184	HP:0000175	Cleft palate
ORPHANET:1052	BUB3	9184	HP:0100867	Duodenal stenosis
ORPHANET:1052	BUB3	9184	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1052	BUB3	9184	HP:0002488	Acute leukemia
ORPHANET:1052	BUB3	9184	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1052	BUB3	9184	HP:0100273	Neoplasm of the colon
ORPHANET:1052	BUB3	9184	HP:0002101	Abnormal lung lobation
ORPHANET:1052	BUB3	9184	HP:0002797	Osteolysis
ORPHANET:1052	BUB3	9184	HP:0000252	Microcephaly
ORPHANET:1052	BUB3	9184	HP:0006753	Neoplasm of the stomach
ORPHANET:1052	BUB3	9184	HP:0000501	Glaucoma
ORPHANET:1052	BUB3	9184	HP:0000518	Cataract
ORPHANET:1052	BUB3	9184	HP:0005105	Abnormal nasal morphology
ORPHANET:1052	BUB3	9184	HP:0001360	Holoprosencephaly
ORPHANET:1052	BUB3	9184	HP:0200008	Intestinal polyposis
ORPHANET:1052	BUB3	9184	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1052	BUB3	9184	HP:0000348	High forehead
ORPHANET:1052	BUB3	9184	HP:0100615	Ovarian neoplasm
ORPHANET:1052	BUB3	9184	HP:0000003	Multicystic kidney dysplasia
ORPHANET:1052	BUB3	9184	HP:0100242	Sarcoma
ORPHANET:1052	BUB3	9184	HP:0002863	Myelodysplasia
ORPHANET:1052	BUB3	9184	HP:0100650	Vaginal neoplasm
ORPHANET:1052	BUB3	9184	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:1052	BUB3	9184	HP:0100543	Cognitive impairment
ORPHANET:1052	BUB3	9184	HP:0010880	Increased nuchal translucency
ORPHANET:1052	BUB3	9184	HP:0001561	Polyhydramnios
ORPHANET:1052	BUB3	9184	HP:0001541	Ascites
ORPHANET:1052	CEP57	9702	HP:0000340	Sloping forehead
ORPHANET:1052	CEP57	9702	HP:0000457	Depressed nasal ridge
ORPHANET:1052	CEP57	9702	HP:0001305	Dandy-Walker malformation
ORPHANET:1052	CEP57	9702	HP:0000821	Hypothyroidism
ORPHANET:1052	CEP57	9702	HP:0001000	Abnormality of skin pigmentation
ORPHANET:1052	CEP57	9702	HP:0000286	Epicanthus
ORPHANET:1052	CEP57	9702	HP:0000364	Hearing abnormality
ORPHANET:1052	CEP57	9702	HP:0000957	Cafe-au-lait spot
ORPHANET:1052	CEP57	9702	HP:0000325	Triangular face
ORPHANET:1052	CEP57	9702	HP:0001679	Abnormality of the aorta
ORPHANET:1052	CEP57	9702	HP:0002667	Nephroblastoma (Wilms tumor)
ORPHANET:1052	CEP57	9702	HP:0001250	Seizures
ORPHANET:1052	CEP57	9702	HP:0001252	Muscular hypotonia
ORPHANET:1052	CEP57	9702	HP:0003202	Skeletal muscle atrophy
ORPHANET:1052	CEP57	9702	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:1052	CEP57	9702	HP:0001631	Atria septal defect
ORPHANET:1052	CEP57	9702	HP:0010978	Abnormality of immune system physiology
ORPHANET:1052	CEP57	9702	HP:0002007	Frontal bossing
ORPHANET:1052	CEP57	9702	HP:0001511	Intrauterine growth retardation
ORPHANET:1052	CEP57	9702	HP:0002104	Apnea
ORPHANET:1052	CEP57	9702	HP:0004322	Short stature
ORPHANET:1052	CEP57	9702	HP:0000494	Downslanted palpebral fissures
ORPHANET:1052	CEP57	9702	HP:0007759	Opacification of the corneal stroma
ORPHANET:1052	CEP57	9702	HP:0000062	Ambiguous genitalia
ORPHANET:1052	CEP57	9702	HP:0000347	Micrognathia
ORPHANET:1052	CEP57	9702	HP:0000175	Cleft palate
ORPHANET:1052	CEP57	9702	HP:0100867	Duodenal stenosis
ORPHANET:1052	CEP57	9702	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1052	CEP57	9702	HP:0002488	Acute leukemia
ORPHANET:1052	CEP57	9702	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1052	CEP57	9702	HP:0100273	Neoplasm of the colon
ORPHANET:1052	CEP57	9702	HP:0002101	Abnormal lung lobation
ORPHANET:1052	CEP57	9702	HP:0002797	Osteolysis
ORPHANET:1052	CEP57	9702	HP:0000252	Microcephaly
ORPHANET:1052	CEP57	9702	HP:0006753	Neoplasm of the stomach
ORPHANET:1052	CEP57	9702	HP:0000501	Glaucoma
ORPHANET:1052	CEP57	9702	HP:0000518	Cataract
ORPHANET:1052	CEP57	9702	HP:0005105	Abnormal nasal morphology
ORPHANET:1052	CEP57	9702	HP:0001360	Holoprosencephaly
ORPHANET:1052	CEP57	9702	HP:0200008	Intestinal polyposis
ORPHANET:1052	CEP57	9702	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1052	CEP57	9702	HP:0000348	High forehead
ORPHANET:1052	CEP57	9702	HP:0100615	Ovarian neoplasm
ORPHANET:1052	CEP57	9702	HP:0000003	Multicystic kidney dysplasia
ORPHANET:1052	CEP57	9702	HP:0100242	Sarcoma
ORPHANET:1052	CEP57	9702	HP:0002863	Myelodysplasia
ORPHANET:1052	CEP57	9702	HP:0100650	Vaginal neoplasm
ORPHANET:1052	CEP57	9702	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:1052	CEP57	9702	HP:0100543	Cognitive impairment
ORPHANET:1052	CEP57	9702	HP:0010880	Increased nuchal translucency
ORPHANET:1052	CEP57	9702	HP:0001561	Polyhydramnios
ORPHANET:1052	CEP57	9702	HP:0001541	Ascites
ORPHANET:1052	BUB1	699	HP:0000340	Sloping forehead
ORPHANET:1052	BUB1	699	HP:0000457	Depressed nasal ridge
ORPHANET:1052	BUB1	699	HP:0001305	Dandy-Walker malformation
ORPHANET:1052	BUB1	699	HP:0000821	Hypothyroidism
ORPHANET:1052	BUB1	699	HP:0001000	Abnormality of skin pigmentation
ORPHANET:1052	BUB1	699	HP:0000286	Epicanthus
ORPHANET:1052	BUB1	699	HP:0000364	Hearing abnormality
ORPHANET:1052	BUB1	699	HP:0000957	Cafe-au-lait spot
ORPHANET:1052	BUB1	699	HP:0000325	Triangular face
ORPHANET:1052	BUB1	699	HP:0001679	Abnormality of the aorta
ORPHANET:1052	BUB1	699	HP:0002667	Nephroblastoma (Wilms tumor)
ORPHANET:1052	BUB1	699	HP:0001250	Seizures
ORPHANET:1052	BUB1	699	HP:0001252	Muscular hypotonia
ORPHANET:1052	BUB1	699	HP:0003202	Skeletal muscle atrophy
ORPHANET:1052	BUB1	699	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:1052	BUB1	699	HP:0001631	Atria septal defect
ORPHANET:1052	BUB1	699	HP:0010978	Abnormality of immune system physiology
ORPHANET:1052	BUB1	699	HP:0002007	Frontal bossing
ORPHANET:1052	BUB1	699	HP:0001511	Intrauterine growth retardation
ORPHANET:1052	BUB1	699	HP:0002104	Apnea
ORPHANET:1052	BUB1	699	HP:0004322	Short stature
ORPHANET:1052	BUB1	699	HP:0000494	Downslanted palpebral fissures
ORPHANET:1052	BUB1	699	HP:0007759	Opacification of the corneal stroma
ORPHANET:1052	BUB1	699	HP:0000062	Ambiguous genitalia
ORPHANET:1052	BUB1	699	HP:0000347	Micrognathia
ORPHANET:1052	BUB1	699	HP:0000175	Cleft palate
ORPHANET:1052	BUB1	699	HP:0100867	Duodenal stenosis
ORPHANET:1052	BUB1	699	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1052	BUB1	699	HP:0002488	Acute leukemia
ORPHANET:1052	BUB1	699	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1052	BUB1	699	HP:0100273	Neoplasm of the colon
ORPHANET:1052	BUB1	699	HP:0002101	Abnormal lung lobation
ORPHANET:1052	BUB1	699	HP:0002797	Osteolysis
ORPHANET:1052	BUB1	699	HP:0000252	Microcephaly
ORPHANET:1052	BUB1	699	HP:0006753	Neoplasm of the stomach
ORPHANET:1052	BUB1	699	HP:0000501	Glaucoma
ORPHANET:1052	BUB1	699	HP:0000518	Cataract
ORPHANET:1052	BUB1	699	HP:0005105	Abnormal nasal morphology
ORPHANET:1052	BUB1	699	HP:0001360	Holoprosencephaly
ORPHANET:1052	BUB1	699	HP:0200008	Intestinal polyposis
ORPHANET:1052	BUB1	699	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1052	BUB1	699	HP:0000348	High forehead
ORPHANET:1052	BUB1	699	HP:0100615	Ovarian neoplasm
ORPHANET:1052	BUB1	699	HP:0000003	Multicystic kidney dysplasia
ORPHANET:1052	BUB1	699	HP:0100242	Sarcoma
ORPHANET:1052	BUB1	699	HP:0002863	Myelodysplasia
ORPHANET:1052	BUB1	699	HP:0100650	Vaginal neoplasm
ORPHANET:1052	BUB1	699	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:1052	BUB1	699	HP:0100543	Cognitive impairment
ORPHANET:1052	BUB1	699	HP:0010880	Increased nuchal translucency
ORPHANET:1052	BUB1	699	HP:0001561	Polyhydramnios
ORPHANET:1052	BUB1	699	HP:0001541	Ascites
ORPHANET:1052	BUB1B	701	HP:0000340	Sloping forehead
ORPHANET:1052	BUB1B	701	HP:0000457	Depressed nasal ridge
ORPHANET:1052	BUB1B	701	HP:0001305	Dandy-Walker malformation
ORPHANET:1052	BUB1B	701	HP:0000821	Hypothyroidism
ORPHANET:1052	BUB1B	701	HP:0001000	Abnormality of skin pigmentation
ORPHANET:1052	BUB1B	701	HP:0000286	Epicanthus
ORPHANET:1052	BUB1B	701	HP:0000364	Hearing abnormality
ORPHANET:1052	BUB1B	701	HP:0000957	Cafe-au-lait spot
ORPHANET:1052	BUB1B	701	HP:0000325	Triangular face
ORPHANET:1052	BUB1B	701	HP:0001679	Abnormality of the aorta
ORPHANET:1052	BUB1B	701	HP:0002667	Nephroblastoma (Wilms tumor)
ORPHANET:1052	BUB1B	701	HP:0001250	Seizures
ORPHANET:1052	BUB1B	701	HP:0001252	Muscular hypotonia
ORPHANET:1052	BUB1B	701	HP:0003202	Skeletal muscle atrophy
ORPHANET:1052	BUB1B	701	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:1052	BUB1B	701	HP:0001631	Atria septal defect
ORPHANET:1052	BUB1B	701	HP:0010978	Abnormality of immune system physiology
ORPHANET:1052	BUB1B	701	HP:0002007	Frontal bossing
ORPHANET:1052	BUB1B	701	HP:0001511	Intrauterine growth retardation
ORPHANET:1052	BUB1B	701	HP:0002104	Apnea
ORPHANET:1052	BUB1B	701	HP:0004322	Short stature
ORPHANET:1052	BUB1B	701	HP:0000494	Downslanted palpebral fissures
ORPHANET:1052	BUB1B	701	HP:0007759	Opacification of the corneal stroma
ORPHANET:1052	BUB1B	701	HP:0000062	Ambiguous genitalia
ORPHANET:1052	BUB1B	701	HP:0000347	Micrognathia
ORPHANET:1052	BUB1B	701	HP:0000175	Cleft palate
ORPHANET:1052	BUB1B	701	HP:0100867	Duodenal stenosis
ORPHANET:1052	BUB1B	701	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:1052	BUB1B	701	HP:0002488	Acute leukemia
ORPHANET:1052	BUB1B	701	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1052	BUB1B	701	HP:0100273	Neoplasm of the colon
ORPHANET:1052	BUB1B	701	HP:0002101	Abnormal lung lobation
ORPHANET:1052	BUB1B	701	HP:0002797	Osteolysis
ORPHANET:1052	BUB1B	701	HP:0000252	Microcephaly
ORPHANET:1052	BUB1B	701	HP:0006753	Neoplasm of the stomach
ORPHANET:1052	BUB1B	701	HP:0000501	Glaucoma
ORPHANET:1052	BUB1B	701	HP:0000518	Cataract
ORPHANET:1052	BUB1B	701	HP:0005105	Abnormal nasal morphology
ORPHANET:1052	BUB1B	701	HP:0001360	Holoprosencephaly
ORPHANET:1052	BUB1B	701	HP:0200008	Intestinal polyposis
ORPHANET:1052	BUB1B	701	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1052	BUB1B	701	HP:0000348	High forehead
ORPHANET:1052	BUB1B	701	HP:0100615	Ovarian neoplasm
ORPHANET:1052	BUB1B	701	HP:0000003	Multicystic kidney dysplasia
ORPHANET:1052	BUB1B	701	HP:0100242	Sarcoma
ORPHANET:1052	BUB1B	701	HP:0002863	Myelodysplasia
ORPHANET:1052	BUB1B	701	HP:0100650	Vaginal neoplasm
ORPHANET:1052	BUB1B	701	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:1052	BUB1B	701	HP:0100543	Cognitive impairment
ORPHANET:1052	BUB1B	701	HP:0010880	Increased nuchal translucency
ORPHANET:1052	BUB1B	701	HP:0001561	Polyhydramnios
ORPHANET:1052	BUB1B	701	HP:0001541	Ascites
ORPHANET:2554	CDT1	81620	HP:0002093	Respiratory insufficiency
ORPHANET:2554	CDT1	81620	HP:0000179	Thick lower lip vermilion
ORPHANET:2554	CDT1	81620	HP:0006443	Patellar aplasia
ORPHANET:2554	CDT1	81620	HP:0001363	Craniosynostosis
ORPHANET:2554	CDT1	81620	HP:0004322	Short stature
ORPHANET:2554	CDT1	81620	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2554	CDT1	81620	HP:0000252	Microcephaly
ORPHANET:2554	CDT1	81620	HP:0100543	Cognitive impairment
ORPHANET:2554	CDT1	81620	HP:0000028	Cryptorchidism
ORPHANET:2554	CDT1	81620	HP:0000365	Hearing impairment
ORPHANET:2554	CDT1	81620	HP:0010458	Female pseudohermaphroditism
ORPHANET:2554	CDT1	81620	HP:0000175	Cleft palate
ORPHANET:2554	CDT1	81620	HP:0001382	Joint hypermobility
ORPHANET:2554	CDT1	81620	HP:0002750	Delayed skeletal maturation
ORPHANET:2554	CDT1	81620	HP:0000347	Micrognathia
ORPHANET:2554	CDT1	81620	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:2554	CDT1	81620	HP:0001511	Intrauterine growth retardation
ORPHANET:2554	CDT1	81620	HP:0100490	Camptodactyly of finger
ORPHANET:2554	CDT1	81620	HP:0000413	Atresia of the external auditory canal
ORPHANET:2554	CDT1	81620	HP:0008736	Hypoplasia of penis
ORPHANET:2554	CDT1	81620	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2554	CDT1	81620	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:2554	CDT1	81620	HP:0003042	Elbow dislocation
ORPHANET:2554	CDT1	81620	HP:0003100	Slender long bone
ORPHANET:2554	CDT1	81620	HP:0000772	Abnormality of the ribs
ORPHANET:2554	CDT1	81620	HP:0000889	Abnormality of the clavicle
ORPHANET:2554	CDT1	81620	HP:0000160	Narrow mouth
ORPHANET:2554	ORC1	4998	HP:0002093	Respiratory insufficiency
ORPHANET:2554	ORC1	4998	HP:0000179	Thick lower lip vermilion
ORPHANET:2554	ORC1	4998	HP:0006443	Patellar aplasia
ORPHANET:2554	ORC1	4998	HP:0001363	Craniosynostosis
ORPHANET:2554	ORC1	4998	HP:0004322	Short stature
ORPHANET:2554	ORC1	4998	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2554	ORC1	4998	HP:0000252	Microcephaly
ORPHANET:2554	ORC1	4998	HP:0100543	Cognitive impairment
ORPHANET:2554	ORC1	4998	HP:0000028	Cryptorchidism
ORPHANET:2554	ORC1	4998	HP:0000365	Hearing impairment
ORPHANET:2554	ORC1	4998	HP:0010458	Female pseudohermaphroditism
ORPHANET:2554	ORC1	4998	HP:0000175	Cleft palate
ORPHANET:2554	ORC1	4998	HP:0001382	Joint hypermobility
ORPHANET:2554	ORC1	4998	HP:0002750	Delayed skeletal maturation
ORPHANET:2554	ORC1	4998	HP:0000347	Micrognathia
ORPHANET:2554	ORC1	4998	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:2554	ORC1	4998	HP:0001511	Intrauterine growth retardation
ORPHANET:2554	ORC1	4998	HP:0100490	Camptodactyly of finger
ORPHANET:2554	ORC1	4998	HP:0000413	Atresia of the external auditory canal
ORPHANET:2554	ORC1	4998	HP:0008736	Hypoplasia of penis
ORPHANET:2554	ORC1	4998	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2554	ORC1	4998	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:2554	ORC1	4998	HP:0003042	Elbow dislocation
ORPHANET:2554	ORC1	4998	HP:0003100	Slender long bone
ORPHANET:2554	ORC1	4998	HP:0000772	Abnormality of the ribs
ORPHANET:2554	ORC1	4998	HP:0000889	Abnormality of the clavicle
ORPHANET:2554	ORC1	4998	HP:0000160	Narrow mouth
ORPHANET:2554	ORC4	5000	HP:0002093	Respiratory insufficiency
ORPHANET:2554	ORC4	5000	HP:0000179	Thick lower lip vermilion
ORPHANET:2554	ORC4	5000	HP:0006443	Patellar aplasia
ORPHANET:2554	ORC4	5000	HP:0001363	Craniosynostosis
ORPHANET:2554	ORC4	5000	HP:0004322	Short stature
ORPHANET:2554	ORC4	5000	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2554	ORC4	5000	HP:0000252	Microcephaly
ORPHANET:2554	ORC4	5000	HP:0100543	Cognitive impairment
ORPHANET:2554	ORC4	5000	HP:0000028	Cryptorchidism
ORPHANET:2554	ORC4	5000	HP:0000365	Hearing impairment
ORPHANET:2554	ORC4	5000	HP:0010458	Female pseudohermaphroditism
ORPHANET:2554	ORC4	5000	HP:0000175	Cleft palate
ORPHANET:2554	ORC4	5000	HP:0001382	Joint hypermobility
ORPHANET:2554	ORC4	5000	HP:0002750	Delayed skeletal maturation
ORPHANET:2554	ORC4	5000	HP:0000347	Micrognathia
ORPHANET:2554	ORC4	5000	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:2554	ORC4	5000	HP:0001511	Intrauterine growth retardation
ORPHANET:2554	ORC4	5000	HP:0100490	Camptodactyly of finger
ORPHANET:2554	ORC4	5000	HP:0000413	Atresia of the external auditory canal
ORPHANET:2554	ORC4	5000	HP:0008736	Hypoplasia of penis
ORPHANET:2554	ORC4	5000	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2554	ORC4	5000	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:2554	ORC4	5000	HP:0003042	Elbow dislocation
ORPHANET:2554	ORC4	5000	HP:0003100	Slender long bone
ORPHANET:2554	ORC4	5000	HP:0000772	Abnormality of the ribs
ORPHANET:2554	ORC4	5000	HP:0000889	Abnormality of the clavicle
ORPHANET:2554	ORC4	5000	HP:0000160	Narrow mouth
ORPHANET:2554	ORC6	23594	HP:0002093	Respiratory insufficiency
ORPHANET:2554	ORC6	23594	HP:0000179	Thick lower lip vermilion
ORPHANET:2554	ORC6	23594	HP:0006443	Patellar aplasia
ORPHANET:2554	ORC6	23594	HP:0001363	Craniosynostosis
ORPHANET:2554	ORC6	23594	HP:0004322	Short stature
ORPHANET:2554	ORC6	23594	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2554	ORC6	23594	HP:0000252	Microcephaly
ORPHANET:2554	ORC6	23594	HP:0100543	Cognitive impairment
ORPHANET:2554	ORC6	23594	HP:0000028	Cryptorchidism
ORPHANET:2554	ORC6	23594	HP:0000365	Hearing impairment
ORPHANET:2554	ORC6	23594	HP:0010458	Female pseudohermaphroditism
ORPHANET:2554	ORC6	23594	HP:0000175	Cleft palate
ORPHANET:2554	ORC6	23594	HP:0001382	Joint hypermobility
ORPHANET:2554	ORC6	23594	HP:0002750	Delayed skeletal maturation
ORPHANET:2554	ORC6	23594	HP:0000347	Micrognathia
ORPHANET:2554	ORC6	23594	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:2554	ORC6	23594	HP:0001511	Intrauterine growth retardation
ORPHANET:2554	ORC6	23594	HP:0100490	Camptodactyly of finger
ORPHANET:2554	ORC6	23594	HP:0000413	Atresia of the external auditory canal
ORPHANET:2554	ORC6	23594	HP:0008736	Hypoplasia of penis
ORPHANET:2554	ORC6	23594	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2554	ORC6	23594	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:2554	ORC6	23594	HP:0003042	Elbow dislocation
ORPHANET:2554	ORC6	23594	HP:0003100	Slender long bone
ORPHANET:2554	ORC6	23594	HP:0000772	Abnormality of the ribs
ORPHANET:2554	ORC6	23594	HP:0000889	Abnormality of the clavicle
ORPHANET:2554	ORC6	23594	HP:0000160	Narrow mouth
ORPHANET:2554	CDC6	990	HP:0002093	Respiratory insufficiency
ORPHANET:2554	CDC6	990	HP:0000179	Thick lower lip vermilion
ORPHANET:2554	CDC6	990	HP:0006443	Patellar aplasia
ORPHANET:2554	CDC6	990	HP:0001363	Craniosynostosis
ORPHANET:2554	CDC6	990	HP:0004322	Short stature
ORPHANET:2554	CDC6	990	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2554	CDC6	990	HP:0000252	Microcephaly
ORPHANET:2554	CDC6	990	HP:0100543	Cognitive impairment
ORPHANET:2554	CDC6	990	HP:0000028	Cryptorchidism
ORPHANET:2554	CDC6	990	HP:0000365	Hearing impairment
ORPHANET:2554	CDC6	990	HP:0010458	Female pseudohermaphroditism
ORPHANET:2554	CDC6	990	HP:0000175	Cleft palate
ORPHANET:2554	CDC6	990	HP:0001382	Joint hypermobility
ORPHANET:2554	CDC6	990	HP:0002750	Delayed skeletal maturation
ORPHANET:2554	CDC6	990	HP:0000347	Micrognathia
ORPHANET:2554	CDC6	990	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:2554	CDC6	990	HP:0001511	Intrauterine growth retardation
ORPHANET:2554	CDC6	990	HP:0100490	Camptodactyly of finger
ORPHANET:2554	CDC6	990	HP:0000413	Atresia of the external auditory canal
ORPHANET:2554	CDC6	990	HP:0008736	Hypoplasia of penis
ORPHANET:2554	CDC6	990	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2554	CDC6	990	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:2554	CDC6	990	HP:0003042	Elbow dislocation
ORPHANET:2554	CDC6	990	HP:0003100	Slender long bone
ORPHANET:2554	CDC6	990	HP:0000772	Abnormality of the ribs
ORPHANET:2554	CDC6	990	HP:0000889	Abnormality of the clavicle
ORPHANET:2554	CDC6	990	HP:0000160	Narrow mouth
OMIM:614924	EARS2	124454	HP:0001319	Neonatal hypotonia
OMIM:614924	EARS2	124454	HP:0000602	Ophthalmoplegia
OMIM:614924	EARS2	124454	HP:0002067	Bradykinesia
OMIM:614924	EARS2	124454	HP:0002352	Leukoencephalopathy
OMIM:614924	EARS2	124454	HP:0006989	Dysplastic corpus callosum
OMIM:614924	EARS2	124454	HP:0000175	Cleft palate
OMIM:614924	EARS2	124454	HP:0001332	Dystonia
OMIM:614924	EARS2	124454	HP:0000505	Visual impairment
OMIM:614924	EARS2	124454	HP:0001250	Seizures
OMIM:614924	EARS2	124454	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614924	EARS2	124454	HP:0003128	Lactic acidosis
OMIM:614924	EARS2	124454	HP:0001285	Spastic tetraparesis
OMIM:614924	EARS2	124454	HP:0000508	Ptosis
OMIM:614924	EARS2	124454	HP:0001263	Global developmental delay
OMIM:614924	EARS2	124454	HP:0002376	Developmental regression
OMIM:614924	EARS2	124454	HP:0001508	Failure to thrive
OMIM:614924	EARS2	124454	HP:0000007	Autosomal recessive inheritance
OMIM:614924	EARS2	124454	HP:0002240	Hepatomegaly
OMIM:614924	EARS2	124454	HP:0002151	Increased serum lactate
OMIM:614924	EARS2	124454	HP:0003593	Infantile onset
OMIM:614924	EARS2	124454	HP:0001396	Cholestasis
OMIM:612310	FIGLA	344018	HP:0001470	Sex-limited autosomal dominant
ORPHANET:3460	MMP14	4323	HP:0004322	Short stature
ORPHANET:3460	MMP14	4323	HP:0002797	Osteolysis
ORPHANET:3460	MMP14	4323	HP:0001072	Thickened skin
ORPHANET:3460	MMP14	4323	HP:0002007	Frontal bossing
ORPHANET:3460	MMP14	4323	HP:0000212	Gingival overgrowth
ORPHANET:3460	MMP14	4323	HP:0001631	Atria septal defect
ORPHANET:3460	MMP14	4323	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:3460	MMP14	4323	HP:0003019	Abnormality of the wrist
ORPHANET:3460	MMP14	4323	HP:0000179	Thick lower lip vermilion
ORPHANET:3460	MMP14	4323	HP:0005105	Abnormal nasal morphology
ORPHANET:3460	MMP14	4323	HP:0000280	Coarse facial features
ORPHANET:3460	MMP14	4323	HP:0008368	Tarsal synostosis
ORPHANET:3460	MMP14	4323	HP:0001369	Arthritis
ORPHANET:3460	MMP14	4323	HP:0000944	Abnormality of the metaphyses
ORPHANET:3460	MMP14	4323	HP:0001376	Limitation of joint mobility
ORPHANET:3460	MMP14	4323	HP:0007400	Irregular hyperpigmentation
ORPHANET:3460	MMP14	4323	HP:0004349	Reduced bone mineral density
ORPHANET:3460	MMP14	4323	HP:0000998	Hypertrichosis
ORPHANET:3460	MMP14	4323	HP:0007759	Opacification of the corneal stroma
ORPHANET:3460	MMP2	4313	HP:0004322	Short stature
ORPHANET:3460	MMP2	4313	HP:0002797	Osteolysis
ORPHANET:3460	MMP2	4313	HP:0001072	Thickened skin
ORPHANET:3460	MMP2	4313	HP:0002007	Frontal bossing
ORPHANET:3460	MMP2	4313	HP:0000212	Gingival overgrowth
ORPHANET:3460	MMP2	4313	HP:0001631	Atria septal defect
ORPHANET:3460	MMP2	4313	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:3460	MMP2	4313	HP:0003019	Abnormality of the wrist
ORPHANET:3460	MMP2	4313	HP:0000179	Thick lower lip vermilion
ORPHANET:3460	MMP2	4313	HP:0005105	Abnormal nasal morphology
ORPHANET:3460	MMP2	4313	HP:0000280	Coarse facial features
ORPHANET:3460	MMP2	4313	HP:0008368	Tarsal synostosis
ORPHANET:3460	MMP2	4313	HP:0001369	Arthritis
ORPHANET:3460	MMP2	4313	HP:0000944	Abnormality of the metaphyses
ORPHANET:3460	MMP2	4313	HP:0001376	Limitation of joint mobility
ORPHANET:3460	MMP2	4313	HP:0007400	Irregular hyperpigmentation
ORPHANET:3460	MMP2	4313	HP:0004349	Reduced bone mineral density
ORPHANET:3460	MMP2	4313	HP:0000998	Hypertrichosis
ORPHANET:3460	MMP2	4313	HP:0007759	Opacification of the corneal stroma
OMIM:601812	PDGFRB	5159	HP:0002650	Scoliosis
OMIM:601812	PDGFRB	5159	HP:0000520	Proptosis
OMIM:601812	PDGFRB	5159	HP:0003100	Slender long bone
OMIM:601812	PDGFRB	5159	HP:0001507	Growth abnormality
OMIM:601812	PDGFRB	5159	HP:0000540	Hypermetropia
OMIM:601812	PDGFRB	5159	HP:0011800	Hypoplasia of midface
OMIM:601812	PDGFRB	5159	HP:0100578	Lipoatrophy
OMIM:601812	PDGFRB	5159	HP:0002645	Wormian bones
OMIM:601812	PDGFRB	5159	HP:0000270	Delayed cranial suture closure
OMIM:601812	PDGFRB	5159	HP:0001156	Brachydactyly syndrome
OMIM:601812	PDGFRB	5159	HP:0000938	Osteopenia
OMIM:601812	PDGFRB	5159	HP:0000962	Hyperkeratosis
OMIM:601812	PDGFRB	5159	HP:0000233	Thin vermilion border
OMIM:601812	PDGFRB	5159	HP:0000347	Micrognathia
OMIM:601812	PDGFRB	5159	HP:0002750	Delayed skeletal maturation
OMIM:601812	PDGFRB	5159	HP:0000684	Delayed eruption of teeth
OMIM:601812	PDGFRB	5159	HP:0008070	Sparse hair
OMIM:601812	PDGFRB	5159	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:601812	PDGFRB	5159	HP:0000407	Sensorineural hearing impairment
OMIM:616490	CEP41	95681	HP:0010442	Polydactyly
OMIM:616490	CEP41	95681	HP:0002789	Tachypnea
OMIM:616490	CEP41	95681	HP:0002104	Apnea
OMIM:616490	CEP41	95681	HP:0006989	Dysplastic corpus callosum
OMIM:616490	CEP41	95681	HP:0007033	Cerebellar dysplasia
OMIM:616490	CEP41	95681	HP:0000589	Coloboma
OMIM:616490	CEP41	95681	HP:0001263	Global developmental delay
OMIM:616490	CEP41	95681	HP:0000496	Abnormality of eye movement
OMIM:616490	C5ORF42	65250	HP:0010442	Polydactyly
OMIM:616490	C5ORF42	65250	HP:0002789	Tachypnea
OMIM:616490	C5ORF42	65250	HP:0002104	Apnea
OMIM:616490	C5ORF42	65250	HP:0006989	Dysplastic corpus callosum
OMIM:616490	C5ORF42	65250	HP:0007033	Cerebellar dysplasia
OMIM:616490	C5ORF42	65250	HP:0000589	Coloboma
OMIM:616490	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:616490	C5ORF42	65250	HP:0000496	Abnormality of eye movement
OMIM:616490	B9D1	27077	HP:0010442	Polydactyly
OMIM:616490	B9D1	27077	HP:0002789	Tachypnea
OMIM:616490	B9D1	27077	HP:0002104	Apnea
OMIM:616490	B9D1	27077	HP:0006989	Dysplastic corpus callosum
OMIM:616490	B9D1	27077	HP:0007033	Cerebellar dysplasia
OMIM:616490	B9D1	27077	HP:0000589	Coloboma
OMIM:616490	B9D1	27077	HP:0001263	Global developmental delay
OMIM:616490	B9D1	27077	HP:0000496	Abnormality of eye movement
OMIM:616490	TMEM237	65062	HP:0010442	Polydactyly
OMIM:616490	TMEM237	65062	HP:0002789	Tachypnea
OMIM:616490	TMEM237	65062	HP:0002104	Apnea
OMIM:616490	TMEM237	65062	HP:0006989	Dysplastic corpus callosum
OMIM:616490	TMEM237	65062	HP:0007033	Cerebellar dysplasia
OMIM:616490	TMEM237	65062	HP:0000589	Coloboma
OMIM:616490	TMEM237	65062	HP:0001263	Global developmental delay
OMIM:616490	TMEM237	65062	HP:0000496	Abnormality of eye movement
OMIM:616490	CSPP1	79848	HP:0010442	Polydactyly
OMIM:616490	CSPP1	79848	HP:0002789	Tachypnea
OMIM:616490	CSPP1	79848	HP:0002104	Apnea
OMIM:616490	CSPP1	79848	HP:0006989	Dysplastic corpus callosum
OMIM:616490	CSPP1	79848	HP:0007033	Cerebellar dysplasia
OMIM:616490	CSPP1	79848	HP:0000589	Coloboma
OMIM:616490	CSPP1	79848	HP:0001263	Global developmental delay
OMIM:616490	CSPP1	79848	HP:0000496	Abnormality of eye movement
OMIM:616490	TMEM67	91147	HP:0010442	Polydactyly
OMIM:616490	TMEM67	91147	HP:0002789	Tachypnea
OMIM:616490	TMEM67	91147	HP:0002104	Apnea
OMIM:616490	TMEM67	91147	HP:0006989	Dysplastic corpus callosum
OMIM:616490	TMEM67	91147	HP:0007033	Cerebellar dysplasia
OMIM:616490	TMEM67	91147	HP:0000589	Coloboma
OMIM:616490	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:616490	TMEM67	91147	HP:0000496	Abnormality of eye movement
OMIM:616490	INPP5E	56623	HP:0010442	Polydactyly
OMIM:616490	INPP5E	56623	HP:0002789	Tachypnea
OMIM:616490	INPP5E	56623	HP:0002104	Apnea
OMIM:616490	INPP5E	56623	HP:0006989	Dysplastic corpus callosum
OMIM:616490	INPP5E	56623	HP:0007033	Cerebellar dysplasia
OMIM:616490	INPP5E	56623	HP:0000589	Coloboma
OMIM:616490	INPP5E	56623	HP:0001263	Global developmental delay
OMIM:616490	INPP5E	56623	HP:0000496	Abnormality of eye movement
OMIM:616490	TCTN1	79600	HP:0010442	Polydactyly
OMIM:616490	TCTN1	79600	HP:0002789	Tachypnea
OMIM:616490	TCTN1	79600	HP:0002104	Apnea
OMIM:616490	TCTN1	79600	HP:0006989	Dysplastic corpus callosum
OMIM:616490	TCTN1	79600	HP:0007033	Cerebellar dysplasia
OMIM:616490	TCTN1	79600	HP:0000589	Coloboma
OMIM:616490	TCTN1	79600	HP:0001263	Global developmental delay
OMIM:616490	TCTN1	79600	HP:0000496	Abnormality of eye movement
OMIM:616490	AHI1	54806	HP:0010442	Polydactyly
OMIM:616490	AHI1	54806	HP:0002789	Tachypnea
OMIM:616490	AHI1	54806	HP:0002104	Apnea
OMIM:616490	AHI1	54806	HP:0006989	Dysplastic corpus callosum
OMIM:616490	AHI1	54806	HP:0007033	Cerebellar dysplasia
OMIM:616490	AHI1	54806	HP:0000589	Coloboma
OMIM:616490	AHI1	54806	HP:0001263	Global developmental delay
OMIM:616490	AHI1	54806	HP:0000496	Abnormality of eye movement
OMIM:616490	MKS1	54903	HP:0010442	Polydactyly
OMIM:616490	MKS1	54903	HP:0002789	Tachypnea
OMIM:616490	MKS1	54903	HP:0002104	Apnea
OMIM:616490	MKS1	54903	HP:0006989	Dysplastic corpus callosum
OMIM:616490	MKS1	54903	HP:0007033	Cerebellar dysplasia
OMIM:616490	MKS1	54903	HP:0000589	Coloboma
OMIM:616490	MKS1	54903	HP:0001263	Global developmental delay
OMIM:616490	MKS1	54903	HP:0000496	Abnormality of eye movement
OMIM:616490	KIAA0586	9786	HP:0010442	Polydactyly
OMIM:616490	KIAA0586	9786	HP:0002789	Tachypnea
OMIM:616490	KIAA0586	9786	HP:0002104	Apnea
OMIM:616490	KIAA0586	9786	HP:0006989	Dysplastic corpus callosum
OMIM:616490	KIAA0586	9786	HP:0007033	Cerebellar dysplasia
OMIM:616490	KIAA0586	9786	HP:0000589	Coloboma
OMIM:616490	KIAA0586	9786	HP:0001263	Global developmental delay
OMIM:616490	KIAA0586	9786	HP:0000496	Abnormality of eye movement
OMIM:616490	TCTN2	79867	HP:0010442	Polydactyly
OMIM:616490	TCTN2	79867	HP:0002789	Tachypnea
OMIM:616490	TCTN2	79867	HP:0002104	Apnea
OMIM:616490	TCTN2	79867	HP:0006989	Dysplastic corpus callosum
OMIM:616490	TCTN2	79867	HP:0007033	Cerebellar dysplasia
OMIM:616490	TCTN2	79867	HP:0000589	Coloboma
OMIM:616490	TCTN2	79867	HP:0001263	Global developmental delay
OMIM:616490	TCTN2	79867	HP:0000496	Abnormality of eye movement
OMIM:616490	ARL13B	200894	HP:0010442	Polydactyly
OMIM:616490	ARL13B	200894	HP:0002789	Tachypnea
OMIM:616490	ARL13B	200894	HP:0002104	Apnea
OMIM:616490	ARL13B	200894	HP:0006989	Dysplastic corpus callosum
OMIM:616490	ARL13B	200894	HP:0007033	Cerebellar dysplasia
OMIM:616490	ARL13B	200894	HP:0000589	Coloboma
OMIM:616490	ARL13B	200894	HP:0001263	Global developmental delay
OMIM:616490	ARL13B	200894	HP:0000496	Abnormality of eye movement
OMIM:215100	PEX7	5191	HP:0002093	Respiratory insufficiency
OMIM:215100	PEX7	5191	HP:0000347	Micrognathia
OMIM:215100	PEX7	5191	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215100	PEX7	5191	HP:0001250	Seizures
OMIM:215100	PEX7	5191	HP:0001596	Alopecia
OMIM:215100	PEX7	5191	HP:0002120	Cerebral cortical atrophy
OMIM:215100	PEX7	5191	HP:0000272	Malar flattening
OMIM:215100	PEX7	5191	HP:0001371	Flexion contracture
OMIM:215100	PEX7	5191	HP:0002751	Kyphoscoliosis
OMIM:215100	PEX7	5191	HP:0008905	Rhizomelia
OMIM:215100	PEX7	5191	HP:0000252	Microcephaly
OMIM:215100	PEX7	5191	HP:0003417	Coronal cleft vertebrae
OMIM:215100	PEX7	5191	HP:0005280	Depressed nasal bridge
OMIM:215100	PEX7	5191	HP:0000407	Sensorineural hearing impairment
OMIM:215100	PEX7	5191	HP:0002007	Frontal bossing
OMIM:215100	PEX7	5191	HP:0002188	Delayed CNS myelination
OMIM:215100	PEX7	5191	HP:0000519	Congenital cataract
OMIM:215100	PEX7	5191	HP:0000582	Upslanted palpebral fissure
OMIM:215100	PEX7	5191	HP:0001249	Intellectual disability
OMIM:215100	PEX7	5191	HP:0000175	Cleft palate
OMIM:215100	PEX7	5191	HP:0003015	Flared metaphysis
OMIM:215100	PEX7	5191	HP:0003510	Severe short stature
OMIM:215100	PEX7	5191	HP:0001257	Spasticity
OMIM:215100	PEX7	5191	HP:0000007	Autosomal recessive inheritance
OMIM:215100	PEX7	5191	HP:0012368	Flat face
OMIM:215100	PEX7	5191	HP:0010655	Epiphyseal stippling
OMIM:215100	PEX7	5191	HP:0008064	Ichthyosis
OMIM:232220	SLC37A4	2542	HP:0000093	Proteinuria
OMIM:232220	SLC37A4	2542	HP:0000097	Focal segmental glomerulosclerosis
OMIM:232220	SLC37A4	2542	HP:0000787	Nephrolithiasis
OMIM:232220	SLC37A4	2542	HP:0001943	Hypoglycemia
OMIM:232220	SLC37A4	2542	HP:0001733	Pancreatitis
OMIM:232220	SLC37A4	2542	HP:0001875	Neutropenia
OMIM:232220	SLC37A4	2542	HP:0000991	Xanthomatosis
OMIM:232220	SLC37A4	2542	HP:0002910	Elevated hepatic transaminases
OMIM:232220	SLC37A4	2542	HP:0003128	Lactic acidosis
OMIM:232220	SLC37A4	2542	HP:0000007	Autosomal recessive inheritance
OMIM:232220	SLC37A4	2542	HP:0000660	Lipemia retinalis
OMIM:232220	SLC37A4	2542	HP:0003077	Hyperlipidemia
OMIM:232220	SLC37A4	2542	HP:0002718	Recurrent bacterial infections
OMIM:232220	SLC37A4	2542	HP:0000822	Hypertension
OMIM:232220	SLC37A4	2542	HP:0001538	Protuberant abdomen
OMIM:232220	SLC37A4	2542	HP:0002240	Hepatomegaly
OMIM:232220	SLC37A4	2542	HP:0004322	Short stature
OMIM:232220	SLC37A4	2542	HP:0000939	Osteoporosis
OMIM:185020	SLC4A1	6521	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:185020	SLC4A1	6521	HP:0000006	Autosomal dominant inheritance
OMIM:185020	SLC4A1	6521	HP:0001878	Hemolytic anemia
OMIM:208500	TTC21B	79809	HP:0003022	Hypoplasia of the ulna
OMIM:208500	TTC21B	79809	HP:0000093	Proteinuria
OMIM:208500	TTC21B	79809	HP:0002093	Respiratory insufficiency
OMIM:208500	TTC21B	79809	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208500	TTC21B	79809	HP:0001829	Foot polydactyly
OMIM:208500	TTC21B	79809	HP:0012622	Chronic kidney disease
OMIM:208500	TTC21B	79809	HP:0000952	Jaundice
OMIM:208500	TTC21B	79809	HP:0000546	Retinal degeneration
OMIM:208500	TTC21B	79809	HP:0001395	Hepatic fibrosis
OMIM:208500	TTC21B	79809	HP:0003025	Metaphyseal irregularity
OMIM:208500	TTC21B	79809	HP:0001522	Death in infancy
OMIM:208500	TTC21B	79809	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:208500	TTC21B	79809	HP:0000773	Short ribs
OMIM:208500	TTC21B	79809	HP:0009803	Short phalanx of finger
OMIM:208500	TTC21B	79809	HP:0001156	Brachydactyly syndrome
OMIM:208500	TTC21B	79809	HP:0001408	Bile duct proliferation
OMIM:208500	TTC21B	79809	HP:0002205	Recurrent respiratory infections
OMIM:208500	TTC21B	79809	HP:0000774	Narrow chest
OMIM:208500	TTC21B	79809	HP:0004322	Short stature
OMIM:208500	TTC21B	79809	HP:0001161	Hand polydactyly
OMIM:208500	TTC21B	79809	HP:0003828	Variable expressivity
OMIM:208500	TTC21B	79809	HP:0010444	Pulmonary insufficiency
OMIM:208500	TTC21B	79809	HP:0000007	Autosomal recessive inheritance
OMIM:208500	TTC21B	79809	HP:0000107	Renal cyst
OMIM:208500	TTC21B	79809	HP:0000083	Renal insufficiency
OMIM:208500	TTC21B	79809	HP:0003038	Fibular hypoplasia
OMIM:208500	TTC21B	79809	HP:0002089	Pulmonary hypoplasia
OMIM:208500	WDR19	57728	HP:0003022	Hypoplasia of the ulna
OMIM:208500	WDR19	57728	HP:0000093	Proteinuria
OMIM:208500	WDR19	57728	HP:0002093	Respiratory insufficiency
OMIM:208500	WDR19	57728	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208500	WDR19	57728	HP:0001829	Foot polydactyly
OMIM:208500	WDR19	57728	HP:0012622	Chronic kidney disease
OMIM:208500	WDR19	57728	HP:0000952	Jaundice
OMIM:208500	WDR19	57728	HP:0000546	Retinal degeneration
OMIM:208500	WDR19	57728	HP:0001395	Hepatic fibrosis
OMIM:208500	WDR19	57728	HP:0003025	Metaphyseal irregularity
OMIM:208500	WDR19	57728	HP:0001522	Death in infancy
OMIM:208500	WDR19	57728	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:208500	WDR19	57728	HP:0000773	Short ribs
OMIM:208500	WDR19	57728	HP:0009803	Short phalanx of finger
OMIM:208500	WDR19	57728	HP:0001156	Brachydactyly syndrome
OMIM:208500	WDR19	57728	HP:0001408	Bile duct proliferation
OMIM:208500	WDR19	57728	HP:0002205	Recurrent respiratory infections
OMIM:208500	WDR19	57728	HP:0000774	Narrow chest
OMIM:208500	WDR19	57728	HP:0004322	Short stature
OMIM:208500	WDR19	57728	HP:0001161	Hand polydactyly
OMIM:208500	WDR19	57728	HP:0003828	Variable expressivity
OMIM:208500	WDR19	57728	HP:0010444	Pulmonary insufficiency
OMIM:208500	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:208500	WDR19	57728	HP:0000107	Renal cyst
OMIM:208500	WDR19	57728	HP:0000083	Renal insufficiency
OMIM:208500	WDR19	57728	HP:0003038	Fibular hypoplasia
OMIM:208500	WDR19	57728	HP:0002089	Pulmonary hypoplasia
OMIM:208500	IFT172	26160	HP:0003022	Hypoplasia of the ulna
OMIM:208500	IFT172	26160	HP:0000093	Proteinuria
OMIM:208500	IFT172	26160	HP:0002093	Respiratory insufficiency
OMIM:208500	IFT172	26160	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208500	IFT172	26160	HP:0001829	Foot polydactyly
OMIM:208500	IFT172	26160	HP:0012622	Chronic kidney disease
OMIM:208500	IFT172	26160	HP:0000952	Jaundice
OMIM:208500	IFT172	26160	HP:0000546	Retinal degeneration
OMIM:208500	IFT172	26160	HP:0001395	Hepatic fibrosis
OMIM:208500	IFT172	26160	HP:0003025	Metaphyseal irregularity
OMIM:208500	IFT172	26160	HP:0001522	Death in infancy
OMIM:208500	IFT172	26160	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:208500	IFT172	26160	HP:0000773	Short ribs
OMIM:208500	IFT172	26160	HP:0009803	Short phalanx of finger
OMIM:208500	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:208500	IFT172	26160	HP:0001408	Bile duct proliferation
OMIM:208500	IFT172	26160	HP:0002205	Recurrent respiratory infections
OMIM:208500	IFT172	26160	HP:0000774	Narrow chest
OMIM:208500	IFT172	26160	HP:0004322	Short stature
OMIM:208500	IFT172	26160	HP:0001161	Hand polydactyly
OMIM:208500	IFT172	26160	HP:0003828	Variable expressivity
OMIM:208500	IFT172	26160	HP:0010444	Pulmonary insufficiency
OMIM:208500	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:208500	IFT172	26160	HP:0000107	Renal cyst
OMIM:208500	IFT172	26160	HP:0000083	Renal insufficiency
OMIM:208500	IFT172	26160	HP:0003038	Fibular hypoplasia
OMIM:208500	IFT172	26160	HP:0002089	Pulmonary hypoplasia
OMIM:208500	WDR34	89891	HP:0003022	Hypoplasia of the ulna
OMIM:208500	WDR34	89891	HP:0000093	Proteinuria
OMIM:208500	WDR34	89891	HP:0002093	Respiratory insufficiency
OMIM:208500	WDR34	89891	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208500	WDR34	89891	HP:0001829	Foot polydactyly
OMIM:208500	WDR34	89891	HP:0012622	Chronic kidney disease
OMIM:208500	WDR34	89891	HP:0000952	Jaundice
OMIM:208500	WDR34	89891	HP:0000546	Retinal degeneration
OMIM:208500	WDR34	89891	HP:0001395	Hepatic fibrosis
OMIM:208500	WDR34	89891	HP:0003025	Metaphyseal irregularity
OMIM:208500	WDR34	89891	HP:0001522	Death in infancy
OMIM:208500	WDR34	89891	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:208500	WDR34	89891	HP:0000773	Short ribs
OMIM:208500	WDR34	89891	HP:0009803	Short phalanx of finger
OMIM:208500	WDR34	89891	HP:0001156	Brachydactyly syndrome
OMIM:208500	WDR34	89891	HP:0001408	Bile duct proliferation
OMIM:208500	WDR34	89891	HP:0002205	Recurrent respiratory infections
OMIM:208500	WDR34	89891	HP:0000774	Narrow chest
OMIM:208500	WDR34	89891	HP:0004322	Short stature
OMIM:208500	WDR34	89891	HP:0001161	Hand polydactyly
OMIM:208500	WDR34	89891	HP:0003828	Variable expressivity
OMIM:208500	WDR34	89891	HP:0010444	Pulmonary insufficiency
OMIM:208500	WDR34	89891	HP:0000007	Autosomal recessive inheritance
OMIM:208500	WDR34	89891	HP:0000107	Renal cyst
OMIM:208500	WDR34	89891	HP:0000083	Renal insufficiency
OMIM:208500	WDR34	89891	HP:0003038	Fibular hypoplasia
OMIM:208500	WDR34	89891	HP:0002089	Pulmonary hypoplasia
OMIM:208500	IFT80	57560	HP:0003022	Hypoplasia of the ulna
OMIM:208500	IFT80	57560	HP:0000093	Proteinuria
OMIM:208500	IFT80	57560	HP:0002093	Respiratory insufficiency
OMIM:208500	IFT80	57560	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208500	IFT80	57560	HP:0001829	Foot polydactyly
OMIM:208500	IFT80	57560	HP:0012622	Chronic kidney disease
OMIM:208500	IFT80	57560	HP:0000952	Jaundice
OMIM:208500	IFT80	57560	HP:0000546	Retinal degeneration
OMIM:208500	IFT80	57560	HP:0001395	Hepatic fibrosis
OMIM:208500	IFT80	57560	HP:0003025	Metaphyseal irregularity
OMIM:208500	IFT80	57560	HP:0001522	Death in infancy
OMIM:208500	IFT80	57560	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:208500	IFT80	57560	HP:0000773	Short ribs
OMIM:208500	IFT80	57560	HP:0009803	Short phalanx of finger
OMIM:208500	IFT80	57560	HP:0001156	Brachydactyly syndrome
OMIM:208500	IFT80	57560	HP:0001408	Bile duct proliferation
OMIM:208500	IFT80	57560	HP:0002205	Recurrent respiratory infections
OMIM:208500	IFT80	57560	HP:0000774	Narrow chest
OMIM:208500	IFT80	57560	HP:0004322	Short stature
OMIM:208500	IFT80	57560	HP:0001161	Hand polydactyly
OMIM:208500	IFT80	57560	HP:0003828	Variable expressivity
OMIM:208500	IFT80	57560	HP:0010444	Pulmonary insufficiency
OMIM:208500	IFT80	57560	HP:0000007	Autosomal recessive inheritance
OMIM:208500	IFT80	57560	HP:0000107	Renal cyst
OMIM:208500	IFT80	57560	HP:0000083	Renal insufficiency
OMIM:208500	IFT80	57560	HP:0003038	Fibular hypoplasia
OMIM:208500	IFT80	57560	HP:0002089	Pulmonary hypoplasia
OMIM:208500	WDR60	55112	HP:0003022	Hypoplasia of the ulna
OMIM:208500	WDR60	55112	HP:0000093	Proteinuria
OMIM:208500	WDR60	55112	HP:0002093	Respiratory insufficiency
OMIM:208500	WDR60	55112	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208500	WDR60	55112	HP:0001829	Foot polydactyly
OMIM:208500	WDR60	55112	HP:0012622	Chronic kidney disease
OMIM:208500	WDR60	55112	HP:0000952	Jaundice
OMIM:208500	WDR60	55112	HP:0000546	Retinal degeneration
OMIM:208500	WDR60	55112	HP:0001395	Hepatic fibrosis
OMIM:208500	WDR60	55112	HP:0003025	Metaphyseal irregularity
OMIM:208500	WDR60	55112	HP:0001522	Death in infancy
OMIM:208500	WDR60	55112	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:208500	WDR60	55112	HP:0000773	Short ribs
OMIM:208500	WDR60	55112	HP:0009803	Short phalanx of finger
OMIM:208500	WDR60	55112	HP:0001156	Brachydactyly syndrome
OMIM:208500	WDR60	55112	HP:0001408	Bile duct proliferation
OMIM:208500	WDR60	55112	HP:0002205	Recurrent respiratory infections
OMIM:208500	WDR60	55112	HP:0000774	Narrow chest
OMIM:208500	WDR60	55112	HP:0004322	Short stature
OMIM:208500	WDR60	55112	HP:0001161	Hand polydactyly
OMIM:208500	WDR60	55112	HP:0003828	Variable expressivity
OMIM:208500	WDR60	55112	HP:0010444	Pulmonary insufficiency
OMIM:208500	WDR60	55112	HP:0000007	Autosomal recessive inheritance
OMIM:208500	WDR60	55112	HP:0000107	Renal cyst
OMIM:208500	WDR60	55112	HP:0000083	Renal insufficiency
OMIM:208500	WDR60	55112	HP:0003038	Fibular hypoplasia
OMIM:208500	WDR60	55112	HP:0002089	Pulmonary hypoplasia
OMIM:208500	DYNC2H1	79659	HP:0003022	Hypoplasia of the ulna
OMIM:208500	DYNC2H1	79659	HP:0000093	Proteinuria
OMIM:208500	DYNC2H1	79659	HP:0002093	Respiratory insufficiency
OMIM:208500	DYNC2H1	79659	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208500	DYNC2H1	79659	HP:0001829	Foot polydactyly
OMIM:208500	DYNC2H1	79659	HP:0012622	Chronic kidney disease
OMIM:208500	DYNC2H1	79659	HP:0000952	Jaundice
OMIM:208500	DYNC2H1	79659	HP:0000546	Retinal degeneration
OMIM:208500	DYNC2H1	79659	HP:0001395	Hepatic fibrosis
OMIM:208500	DYNC2H1	79659	HP:0003025	Metaphyseal irregularity
OMIM:208500	DYNC2H1	79659	HP:0001522	Death in infancy
OMIM:208500	DYNC2H1	79659	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:208500	DYNC2H1	79659	HP:0000773	Short ribs
OMIM:208500	DYNC2H1	79659	HP:0009803	Short phalanx of finger
OMIM:208500	DYNC2H1	79659	HP:0001156	Brachydactyly syndrome
OMIM:208500	DYNC2H1	79659	HP:0001408	Bile duct proliferation
OMIM:208500	DYNC2H1	79659	HP:0002205	Recurrent respiratory infections
OMIM:208500	DYNC2H1	79659	HP:0000774	Narrow chest
OMIM:208500	DYNC2H1	79659	HP:0004322	Short stature
OMIM:208500	DYNC2H1	79659	HP:0001161	Hand polydactyly
OMIM:208500	DYNC2H1	79659	HP:0003828	Variable expressivity
OMIM:208500	DYNC2H1	79659	HP:0010444	Pulmonary insufficiency
OMIM:208500	DYNC2H1	79659	HP:0000007	Autosomal recessive inheritance
OMIM:208500	DYNC2H1	79659	HP:0000107	Renal cyst
OMIM:208500	DYNC2H1	79659	HP:0000083	Renal insufficiency
OMIM:208500	DYNC2H1	79659	HP:0003038	Fibular hypoplasia
OMIM:208500	DYNC2H1	79659	HP:0002089	Pulmonary hypoplasia
OMIM:208500	CEP120	153241	HP:0003022	Hypoplasia of the ulna
OMIM:208500	CEP120	153241	HP:0000093	Proteinuria
OMIM:208500	CEP120	153241	HP:0002093	Respiratory insufficiency
OMIM:208500	CEP120	153241	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208500	CEP120	153241	HP:0001829	Foot polydactyly
OMIM:208500	CEP120	153241	HP:0012622	Chronic kidney disease
OMIM:208500	CEP120	153241	HP:0000952	Jaundice
OMIM:208500	CEP120	153241	HP:0000546	Retinal degeneration
OMIM:208500	CEP120	153241	HP:0001395	Hepatic fibrosis
OMIM:208500	CEP120	153241	HP:0003025	Metaphyseal irregularity
OMIM:208500	CEP120	153241	HP:0001522	Death in infancy
OMIM:208500	CEP120	153241	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:208500	CEP120	153241	HP:0000773	Short ribs
OMIM:208500	CEP120	153241	HP:0009803	Short phalanx of finger
OMIM:208500	CEP120	153241	HP:0001156	Brachydactyly syndrome
OMIM:208500	CEP120	153241	HP:0001408	Bile duct proliferation
OMIM:208500	CEP120	153241	HP:0002205	Recurrent respiratory infections
OMIM:208500	CEP120	153241	HP:0000774	Narrow chest
OMIM:208500	CEP120	153241	HP:0004322	Short stature
OMIM:208500	CEP120	153241	HP:0001161	Hand polydactyly
OMIM:208500	CEP120	153241	HP:0003828	Variable expressivity
OMIM:208500	CEP120	153241	HP:0010444	Pulmonary insufficiency
OMIM:208500	CEP120	153241	HP:0000007	Autosomal recessive inheritance
OMIM:208500	CEP120	153241	HP:0000107	Renal cyst
OMIM:208500	CEP120	153241	HP:0000083	Renal insufficiency
OMIM:208500	CEP120	153241	HP:0003038	Fibular hypoplasia
OMIM:208500	CEP120	153241	HP:0002089	Pulmonary hypoplasia
OMIM:208500	IFT140	9742	HP:0003022	Hypoplasia of the ulna
OMIM:208500	IFT140	9742	HP:0000093	Proteinuria
OMIM:208500	IFT140	9742	HP:0002093	Respiratory insufficiency
OMIM:208500	IFT140	9742	HP:0002908	Conjugated hyperbilirubinemia
OMIM:208500	IFT140	9742	HP:0001829	Foot polydactyly
OMIM:208500	IFT140	9742	HP:0012622	Chronic kidney disease
OMIM:208500	IFT140	9742	HP:0000952	Jaundice
OMIM:208500	IFT140	9742	HP:0000546	Retinal degeneration
OMIM:208500	IFT140	9742	HP:0001395	Hepatic fibrosis
OMIM:208500	IFT140	9742	HP:0003025	Metaphyseal irregularity
OMIM:208500	IFT140	9742	HP:0001522	Death in infancy
OMIM:208500	IFT140	9742	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:208500	IFT140	9742	HP:0000773	Short ribs
OMIM:208500	IFT140	9742	HP:0009803	Short phalanx of finger
OMIM:208500	IFT140	9742	HP:0001156	Brachydactyly syndrome
OMIM:208500	IFT140	9742	HP:0001408	Bile duct proliferation
OMIM:208500	IFT140	9742	HP:0002205	Recurrent respiratory infections
OMIM:208500	IFT140	9742	HP:0000774	Narrow chest
OMIM:208500	IFT140	9742	HP:0004322	Short stature
OMIM:208500	IFT140	9742	HP:0001161	Hand polydactyly
OMIM:208500	IFT140	9742	HP:0003828	Variable expressivity
OMIM:208500	IFT140	9742	HP:0010444	Pulmonary insufficiency
OMIM:208500	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:208500	IFT140	9742	HP:0000107	Renal cyst
OMIM:208500	IFT140	9742	HP:0000083	Renal insufficiency
OMIM:208500	IFT140	9742	HP:0003038	Fibular hypoplasia
OMIM:208500	IFT140	9742	HP:0002089	Pulmonary hypoplasia
OMIM:616248	ZBTB42	100128927	HP:0000256	Macrocephaly
OMIM:616248	ZBTB42	100128927	HP:0001558	Decreased fetal movement
OMIM:613095	PKD2	5311	HP:0000006	Autosomal dominant inheritance
OMIM:613095	PKD2	5311	HP:0000083	Renal insufficiency
OMIM:613095	PKD2	5311	HP:0000113	Polycystic kidney dysplasia
OMIM:612463	GNAS	2778	HP:0003812	Phenotypic variability
OMIM:612463	GNAS	2778	HP:0000639	Nystagmus
OMIM:612463	GNAS	2778	HP:0010049	Short metacarpal
OMIM:612463	GNAS	2778	HP:0000293	Full cheeks
OMIM:612463	GNAS	2778	HP:0004322	Short stature
OMIM:612463	GNAS	2778	HP:0001156	Brachydactyly syndrome
OMIM:612463	GNAS	2778	HP:0005280	Depressed nasal bridge
OMIM:612463	GNAS	2778	HP:0001513	Obesity
OMIM:612463	GNAS	2778	HP:0000470	Short neck
OMIM:612463	GNAS	2778	HP:0000939	Osteoporosis
OMIM:612463	GNAS	2778	HP:0001249	Intellectual disability
OMIM:612463	GNAS	2778	HP:0100543	Cognitive impairment
OMIM:612463	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
OMIM:612463	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:612463	GNAS	2778	HP:0000518	Cataract
OMIM:612463	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
OMIM:612463	GNAS	2778	HP:0010743	Short metatarsal
OMIM:612463	GNAS	2778	HP:0000311	Round face
OMIM:612463	GNAS	2778	HP:0000684	Delayed eruption of teeth
OMIM:614492	WNK1	65125	HP:0001942	Metabolic acidosis
OMIM:614492	WNK1	65125	HP:0000006	Autosomal dominant inheritance
OMIM:614492	WNK1	65125	HP:0000822	Hypertension
OMIM:614492	WNK1	65125	HP:0008242	Pseudohypoaldosteronism
OMIM:614492	WNK1	65125	HP:0002153	Hyperkalemia
OMIM:614492	WNK1	65125	HP:0011423	Hyperchloremia
OMIM:613860	FCN3	8547	HP:0200043	Verrucae
OMIM:613860	FCN3	8547	HP:0000007	Autosomal recessive inheritance
OMIM:613860	FCN3	8547	HP:0002722	Recurrent abscess formation
OMIM:613860	FCN3	8547	HP:0002783	Recurrent lower respiratory tract infections
OMIM:613860	FCN3	8547	HP:0002721	Immunodeficiency
OMIM:218330	WDR19	57728	HP:0001831	Short toe
OMIM:218330	WDR19	57728	HP:0000773	Short ribs
OMIM:218330	WDR19	57728	HP:0000218	High palate
OMIM:218330	WDR19	57728	HP:0000639	Nystagmus
OMIM:218330	WDR19	57728	HP:0000268	Dolichocephaly
OMIM:218330	WDR19	57728	HP:0006563	Malformation of the hepatic ductal plate
OMIM:218330	WDR19	57728	HP:0000954	Single transverse palmar crease
OMIM:218330	WDR19	57728	HP:0000506	Telecanthus
OMIM:218330	WDR19	57728	HP:0000968	Ectodermal dysplasia
OMIM:218330	WDR19	57728	HP:0000767	Pectus excavatum
OMIM:218330	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:218330	WDR19	57728	HP:0000601	Hypotelorism
OMIM:218330	WDR19	57728	HP:0006297	Hypoplasia of dental enamel
OMIM:218330	WDR19	57728	HP:0004298	Abnormality of the abdominal wall
OMIM:218330	WDR19	57728	HP:0001407	Hepatic cysts
OMIM:218330	WDR19	57728	HP:0000939	Osteoporosis
OMIM:218330	WDR19	57728	HP:0002213	Fine hair
OMIM:218330	WDR19	57728	HP:0001647	Bicuspid aortic valve
OMIM:218330	WDR19	57728	HP:0000545	Myopia
OMIM:218330	WDR19	57728	HP:0008070	Sparse hair
OMIM:218330	WDR19	57728	HP:0002217	Slow-growing hair
OMIM:218330	WDR19	57728	HP:0000431	Wide nasal bridge
OMIM:218330	WDR19	57728	HP:0001970	Tubulointerstitial nephritis
OMIM:218330	WDR19	57728	HP:0008905	Rhizomelia
OMIM:218330	WDR19	57728	HP:0000674	Anodontia
OMIM:218330	WDR19	57728	HP:0000668	Hypodontia
OMIM:218330	WDR19	57728	HP:0001538	Protuberant abdomen
OMIM:218330	WDR19	57728	HP:0001816	Thin nail
OMIM:218330	WDR19	57728	HP:0003038	Fibular hypoplasia
OMIM:218330	WDR19	57728	HP:0000687	Widely spaced teeth
OMIM:218330	WDR19	57728	HP:0000691	Microdontia
OMIM:218330	WDR19	57728	HP:0000293	Full cheeks
OMIM:218330	WDR19	57728	HP:0012622	Chronic kidney disease
OMIM:218330	WDR19	57728	HP:0002901	Hypocalcemia
OMIM:218330	WDR19	57728	HP:0001395	Hepatic fibrosis
OMIM:218330	WDR19	57728	HP:0009466	Radial deviation of finger
OMIM:218330	WDR19	57728	HP:0000232	Everted lower lip vermilion
OMIM:218330	WDR19	57728	HP:0009880	Broad distal phalanges of all fingers
OMIM:218330	WDR19	57728	HP:0002007	Frontal bossing
OMIM:218330	WDR19	57728	HP:0000463	Anteverted nares
OMIM:218330	WDR19	57728	HP:0009882	Short distal phalanx of finger
OMIM:218330	WDR19	57728	HP:0005792	Short humerus
OMIM:218330	WDR19	57728	HP:0001156	Brachydactyly syndrome
OMIM:218330	WDR19	57728	HP:0003071	Flattened epiphysis
OMIM:218330	WDR19	57728	HP:0001799	Short nail
OMIM:218330	WDR19	57728	HP:0002240	Hepatomegaly
OMIM:218330	WDR19	57728	HP:0000556	Retinal dystrophy
OMIM:218330	WDR19	57728	HP:0005567	Renal magnesium wasting
OMIM:218330	WDR19	57728	HP:0001837	Broad toe
OMIM:218330	WDR19	57728	HP:0004442	Sagittal craniosynostosis
OMIM:218330	WDR19	57728	HP:0000286	Epicanthus
OMIM:218330	WDR19	57728	HP:0001399	Hepatic failure
OMIM:218330	WDR19	57728	HP:0001388	Joint laxity
OMIM:218330	WDR19	57728	HP:0000774	Narrow chest
OMIM:218330	IFT43	112752	HP:0001831	Short toe
OMIM:218330	IFT43	112752	HP:0000773	Short ribs
OMIM:218330	IFT43	112752	HP:0000218	High palate
OMIM:218330	IFT43	112752	HP:0000639	Nystagmus
OMIM:218330	IFT43	112752	HP:0000268	Dolichocephaly
OMIM:218330	IFT43	112752	HP:0006563	Malformation of the hepatic ductal plate
OMIM:218330	IFT43	112752	HP:0000954	Single transverse palmar crease
OMIM:218330	IFT43	112752	HP:0000506	Telecanthus
OMIM:218330	IFT43	112752	HP:0000968	Ectodermal dysplasia
OMIM:218330	IFT43	112752	HP:0000767	Pectus excavatum
OMIM:218330	IFT43	112752	HP:0000007	Autosomal recessive inheritance
OMIM:218330	IFT43	112752	HP:0000601	Hypotelorism
OMIM:218330	IFT43	112752	HP:0006297	Hypoplasia of dental enamel
OMIM:218330	IFT43	112752	HP:0004298	Abnormality of the abdominal wall
OMIM:218330	IFT43	112752	HP:0001407	Hepatic cysts
OMIM:218330	IFT43	112752	HP:0000939	Osteoporosis
OMIM:218330	IFT43	112752	HP:0002213	Fine hair
OMIM:218330	IFT43	112752	HP:0001647	Bicuspid aortic valve
OMIM:218330	IFT43	112752	HP:0000545	Myopia
OMIM:218330	IFT43	112752	HP:0008070	Sparse hair
OMIM:218330	IFT43	112752	HP:0002217	Slow-growing hair
OMIM:218330	IFT43	112752	HP:0000431	Wide nasal bridge
OMIM:218330	IFT43	112752	HP:0001970	Tubulointerstitial nephritis
OMIM:218330	IFT43	112752	HP:0008905	Rhizomelia
OMIM:218330	IFT43	112752	HP:0000674	Anodontia
OMIM:218330	IFT43	112752	HP:0000668	Hypodontia
OMIM:218330	IFT43	112752	HP:0001538	Protuberant abdomen
OMIM:218330	IFT43	112752	HP:0001816	Thin nail
OMIM:218330	IFT43	112752	HP:0003038	Fibular hypoplasia
OMIM:218330	IFT43	112752	HP:0000687	Widely spaced teeth
OMIM:218330	IFT43	112752	HP:0000691	Microdontia
OMIM:218330	IFT43	112752	HP:0000293	Full cheeks
OMIM:218330	IFT43	112752	HP:0012622	Chronic kidney disease
OMIM:218330	IFT43	112752	HP:0002901	Hypocalcemia
OMIM:218330	IFT43	112752	HP:0001395	Hepatic fibrosis
OMIM:218330	IFT43	112752	HP:0009466	Radial deviation of finger
OMIM:218330	IFT43	112752	HP:0000232	Everted lower lip vermilion
OMIM:218330	IFT43	112752	HP:0009880	Broad distal phalanges of all fingers
OMIM:218330	IFT43	112752	HP:0002007	Frontal bossing
OMIM:218330	IFT43	112752	HP:0000463	Anteverted nares
OMIM:218330	IFT43	112752	HP:0009882	Short distal phalanx of finger
OMIM:218330	IFT43	112752	HP:0005792	Short humerus
OMIM:218330	IFT43	112752	HP:0001156	Brachydactyly syndrome
OMIM:218330	IFT43	112752	HP:0003071	Flattened epiphysis
OMIM:218330	IFT43	112752	HP:0001799	Short nail
OMIM:218330	IFT43	112752	HP:0002240	Hepatomegaly
OMIM:218330	IFT43	112752	HP:0000556	Retinal dystrophy
OMIM:218330	IFT43	112752	HP:0005567	Renal magnesium wasting
OMIM:218330	IFT43	112752	HP:0001837	Broad toe
OMIM:218330	IFT43	112752	HP:0004442	Sagittal craniosynostosis
OMIM:218330	IFT43	112752	HP:0000286	Epicanthus
OMIM:218330	IFT43	112752	HP:0001399	Hepatic failure
OMIM:218330	IFT43	112752	HP:0001388	Joint laxity
OMIM:218330	IFT43	112752	HP:0000774	Narrow chest
OMIM:218330	WDR35	57539	HP:0001831	Short toe
OMIM:218330	WDR35	57539	HP:0000773	Short ribs
OMIM:218330	WDR35	57539	HP:0000218	High palate
OMIM:218330	WDR35	57539	HP:0000639	Nystagmus
OMIM:218330	WDR35	57539	HP:0000268	Dolichocephaly
OMIM:218330	WDR35	57539	HP:0006563	Malformation of the hepatic ductal plate
OMIM:218330	WDR35	57539	HP:0000954	Single transverse palmar crease
OMIM:218330	WDR35	57539	HP:0000506	Telecanthus
OMIM:218330	WDR35	57539	HP:0000968	Ectodermal dysplasia
OMIM:218330	WDR35	57539	HP:0000767	Pectus excavatum
OMIM:218330	WDR35	57539	HP:0000007	Autosomal recessive inheritance
OMIM:218330	WDR35	57539	HP:0000601	Hypotelorism
OMIM:218330	WDR35	57539	HP:0006297	Hypoplasia of dental enamel
OMIM:218330	WDR35	57539	HP:0004298	Abnormality of the abdominal wall
OMIM:218330	WDR35	57539	HP:0001407	Hepatic cysts
OMIM:218330	WDR35	57539	HP:0000939	Osteoporosis
OMIM:218330	WDR35	57539	HP:0002213	Fine hair
OMIM:218330	WDR35	57539	HP:0001647	Bicuspid aortic valve
OMIM:218330	WDR35	57539	HP:0000545	Myopia
OMIM:218330	WDR35	57539	HP:0008070	Sparse hair
OMIM:218330	WDR35	57539	HP:0002217	Slow-growing hair
OMIM:218330	WDR35	57539	HP:0000431	Wide nasal bridge
OMIM:218330	WDR35	57539	HP:0001970	Tubulointerstitial nephritis
OMIM:218330	WDR35	57539	HP:0008905	Rhizomelia
OMIM:218330	WDR35	57539	HP:0000674	Anodontia
OMIM:218330	WDR35	57539	HP:0000668	Hypodontia
OMIM:218330	WDR35	57539	HP:0001538	Protuberant abdomen
OMIM:218330	WDR35	57539	HP:0001816	Thin nail
OMIM:218330	WDR35	57539	HP:0003038	Fibular hypoplasia
OMIM:218330	WDR35	57539	HP:0000687	Widely spaced teeth
OMIM:218330	WDR35	57539	HP:0000691	Microdontia
OMIM:218330	WDR35	57539	HP:0000293	Full cheeks
OMIM:218330	WDR35	57539	HP:0012622	Chronic kidney disease
OMIM:218330	WDR35	57539	HP:0002901	Hypocalcemia
OMIM:218330	WDR35	57539	HP:0001395	Hepatic fibrosis
OMIM:218330	WDR35	57539	HP:0009466	Radial deviation of finger
OMIM:218330	WDR35	57539	HP:0000232	Everted lower lip vermilion
OMIM:218330	WDR35	57539	HP:0009880	Broad distal phalanges of all fingers
OMIM:218330	WDR35	57539	HP:0002007	Frontal bossing
OMIM:218330	WDR35	57539	HP:0000463	Anteverted nares
OMIM:218330	WDR35	57539	HP:0009882	Short distal phalanx of finger
OMIM:218330	WDR35	57539	HP:0005792	Short humerus
OMIM:218330	WDR35	57539	HP:0001156	Brachydactyly syndrome
OMIM:218330	WDR35	57539	HP:0003071	Flattened epiphysis
OMIM:218330	WDR35	57539	HP:0001799	Short nail
OMIM:218330	WDR35	57539	HP:0002240	Hepatomegaly
OMIM:218330	WDR35	57539	HP:0000556	Retinal dystrophy
OMIM:218330	WDR35	57539	HP:0005567	Renal magnesium wasting
OMIM:218330	WDR35	57539	HP:0001837	Broad toe
OMIM:218330	WDR35	57539	HP:0004442	Sagittal craniosynostosis
OMIM:218330	WDR35	57539	HP:0000286	Epicanthus
OMIM:218330	WDR35	57539	HP:0001399	Hepatic failure
OMIM:218330	WDR35	57539	HP:0001388	Joint laxity
OMIM:218330	WDR35	57539	HP:0000774	Narrow chest
OMIM:218330	IFT122	55764	HP:0001831	Short toe
OMIM:218330	IFT122	55764	HP:0000773	Short ribs
OMIM:218330	IFT122	55764	HP:0000218	High palate
OMIM:218330	IFT122	55764	HP:0000639	Nystagmus
OMIM:218330	IFT122	55764	HP:0000268	Dolichocephaly
OMIM:218330	IFT122	55764	HP:0006563	Malformation of the hepatic ductal plate
OMIM:218330	IFT122	55764	HP:0000954	Single transverse palmar crease
OMIM:218330	IFT122	55764	HP:0000506	Telecanthus
OMIM:218330	IFT122	55764	HP:0000968	Ectodermal dysplasia
OMIM:218330	IFT122	55764	HP:0000767	Pectus excavatum
OMIM:218330	IFT122	55764	HP:0000007	Autosomal recessive inheritance
OMIM:218330	IFT122	55764	HP:0000601	Hypotelorism
OMIM:218330	IFT122	55764	HP:0006297	Hypoplasia of dental enamel
OMIM:218330	IFT122	55764	HP:0004298	Abnormality of the abdominal wall
OMIM:218330	IFT122	55764	HP:0001407	Hepatic cysts
OMIM:218330	IFT122	55764	HP:0000939	Osteoporosis
OMIM:218330	IFT122	55764	HP:0002213	Fine hair
OMIM:218330	IFT122	55764	HP:0001647	Bicuspid aortic valve
OMIM:218330	IFT122	55764	HP:0000545	Myopia
OMIM:218330	IFT122	55764	HP:0008070	Sparse hair
OMIM:218330	IFT122	55764	HP:0002217	Slow-growing hair
OMIM:218330	IFT122	55764	HP:0000431	Wide nasal bridge
OMIM:218330	IFT122	55764	HP:0001970	Tubulointerstitial nephritis
OMIM:218330	IFT122	55764	HP:0008905	Rhizomelia
OMIM:218330	IFT122	55764	HP:0000674	Anodontia
OMIM:218330	IFT122	55764	HP:0000668	Hypodontia
OMIM:218330	IFT122	55764	HP:0001538	Protuberant abdomen
OMIM:218330	IFT122	55764	HP:0001816	Thin nail
OMIM:218330	IFT122	55764	HP:0003038	Fibular hypoplasia
OMIM:218330	IFT122	55764	HP:0000687	Widely spaced teeth
OMIM:218330	IFT122	55764	HP:0000691	Microdontia
OMIM:218330	IFT122	55764	HP:0000293	Full cheeks
OMIM:218330	IFT122	55764	HP:0012622	Chronic kidney disease
OMIM:218330	IFT122	55764	HP:0002901	Hypocalcemia
OMIM:218330	IFT122	55764	HP:0001395	Hepatic fibrosis
OMIM:218330	IFT122	55764	HP:0009466	Radial deviation of finger
OMIM:218330	IFT122	55764	HP:0000232	Everted lower lip vermilion
OMIM:218330	IFT122	55764	HP:0009880	Broad distal phalanges of all fingers
OMIM:218330	IFT122	55764	HP:0002007	Frontal bossing
OMIM:218330	IFT122	55764	HP:0000463	Anteverted nares
OMIM:218330	IFT122	55764	HP:0009882	Short distal phalanx of finger
OMIM:218330	IFT122	55764	HP:0005792	Short humerus
OMIM:218330	IFT122	55764	HP:0001156	Brachydactyly syndrome
OMIM:218330	IFT122	55764	HP:0003071	Flattened epiphysis
OMIM:218330	IFT122	55764	HP:0001799	Short nail
OMIM:218330	IFT122	55764	HP:0002240	Hepatomegaly
OMIM:218330	IFT122	55764	HP:0000556	Retinal dystrophy
OMIM:218330	IFT122	55764	HP:0005567	Renal magnesium wasting
OMIM:218330	IFT122	55764	HP:0001837	Broad toe
OMIM:218330	IFT122	55764	HP:0004442	Sagittal craniosynostosis
OMIM:218330	IFT122	55764	HP:0000286	Epicanthus
OMIM:218330	IFT122	55764	HP:0001399	Hepatic failure
OMIM:218330	IFT122	55764	HP:0001388	Joint laxity
OMIM:218330	IFT122	55764	HP:0000774	Narrow chest
ORPHANET:743	PROS1	5627	HP:0001933	Subcutaneous hemorrhage
ORPHANET:743	PROS1	5627	HP:0004418	Thrombophlebitis
ORPHANET:743	PROS1	5627	HP:0100659	Abnormality of the cerebral vasculature
ORPHANET:743	PROS1	5627	HP:0200042	Skin ulcer
ORPHANET:743	PROS1	5627	HP:0002204	Pulmonary embolism
ORPHANET:743	PROS1	5627	HP:0000488	Retinopathy
ORPHANET:743	PROS1	5627	HP:0004420	Arterial thrombosis
ORPHANET:743	PROS1	5627	HP:0001000	Abnormality of skin pigmentation
ORPHANET:743	PROS1	5627	HP:0005293	Venous insufficiency
ORPHANET:743	PROS1	5627	HP:0000963	Thin skin
OMIM:251300	WDR73	84942	HP:0001010	Hypopigmentation of the skin
OMIM:251300	WDR73	84942	HP:0000568	Microphthalmia
OMIM:251300	WDR73	84942	HP:0001276	Hypertonia
OMIM:251300	WDR73	84942	HP:0001252	Muscular hypotonia
OMIM:251300	WDR73	84942	HP:0001761	Pes cavus
OMIM:251300	WDR73	84942	HP:0000093	Proteinuria
OMIM:251300	WDR73	84942	HP:0001792	Small nail
OMIM:251300	WDR73	84942	HP:0100490	Camptodactyly of finger
OMIM:251300	WDR73	84942	HP:0000164	Abnormality of the teeth
OMIM:251300	WDR73	84942	HP:0002510	Spastic tetraplegia
OMIM:251300	WDR73	84942	HP:0012385	Camptodactyly
OMIM:251300	WDR73	84942	HP:0000518	Cataract
OMIM:251300	WDR73	84942	HP:0000316	Hypertelorism
OMIM:251300	WDR73	84942	HP:0000100	Nephrotic syndrome
OMIM:251300	WDR73	84942	HP:0001622	Premature birth
OMIM:251300	WDR73	84942	HP:0001250	Seizures
OMIM:251300	WDR73	84942	HP:0000508	Ptosis
OMIM:251300	WDR73	84942	HP:0001305	Dandy-Walker malformation
OMIM:251300	WDR73	84942	HP:0000007	Autosomal recessive inheritance
OMIM:251300	WDR73	84942	HP:0000154	Wide mouth
OMIM:251300	WDR73	84942	HP:0000486	Strabismus
OMIM:251300	WDR73	84942	HP:0000252	Microcephaly
OMIM:251300	WDR73	84942	HP:0001518	Small for gestational age
OMIM:251300	WDR73	84942	HP:0007759	Opacification of the corneal stroma
OMIM:251300	WDR73	84942	HP:0001263	Global developmental delay
OMIM:251300	WDR73	84942	HP:0002365	Hypoplasia of the brainstem
OMIM:251300	WDR73	84942	HP:0003593	Infantile onset
OMIM:251300	WDR73	84942	HP:0005469	Flat occiput
OMIM:251300	WDR73	84942	HP:0000400	Macrotia
OMIM:251300	WDR73	84942	HP:0011968	Feeding difficulties
OMIM:251300	WDR73	84942	HP:0002269	Abnormality of neuronal migration
OMIM:251300	WDR73	84942	HP:0004374	Hemiplegia/hemiparesis
OMIM:251300	WDR73	84942	HP:0000369	Low-set ears
OMIM:251300	WDR73	84942	HP:0002079	Hypoplasia of the corpus callosum
OMIM:251300	WDR73	84942	HP:0001347	Hyperreflexia
OMIM:251300	WDR73	84942	HP:0000347	Micrognathia
OMIM:251300	WDR73	84942	HP:0001251	Ataxia
OMIM:251300	WDR73	84942	HP:0001272	Cerebellar atrophy
OMIM:251300	WDR73	84942	HP:0000097	Focal segmental glomerulosclerosis
OMIM:251300	WDR73	84942	HP:0011800	Hypoplasia of midface
OMIM:251300	WDR73	84942	HP:0000340	Sloping forehead
OMIM:251300	WDR73	84942	HP:0002059	Cerebral atrophy
OMIM:251300	WDR73	84942	HP:0000218	High palate
OMIM:251300	WDR73	84942	HP:0001181	Adducted thumb
OMIM:251300	WDR73	84942	HP:0001511	Intrauterine growth retardation
OMIM:251300	WDR73	84942	HP:0100543	Cognitive impairment
OMIM:251300	WDR73	84942	HP:0003073	Hypoalbuminemia
OMIM:251300	WDR73	84942	HP:0004322	Short stature
OMIM:251300	WDR73	84942	HP:0010978	Abnormality of immune system physiology
OMIM:251300	WDR73	84942	HP:0002353	EEG abnormality
OMIM:251300	WDR73	84942	HP:0000112	Nephropathy
OMIM:251300	WDR73	84942	HP:0000639	Nystagmus
OMIM:251300	WDR73	84942	HP:0001238	Slender finger
OMIM:251300	WDR73	84942	HP:0001762	Talipes equinovarus
OMIM:251300	WDR73	84942	HP:0005108	Abnormality of the intervertebral disk
OMIM:251300	WDR73	84942	HP:0000601	Hypotelorism
OMIM:251300	WDR73	84942	HP:0001332	Dystonia
OMIM:251300	WDR73	84942	HP:0009473	Joint contracture of the hand
OMIM:251300	WDR73	84942	HP:0000448	Prominent nose
OMIM:251300	WDR73	84942	HP:0001562	Oligohydramnios
OMIM:251300	WDR73	84942	HP:0001302	Pachygyria
OMIM:251300	WDR73	84942	HP:0000286	Epicanthus
OMIM:251300	WDR73	84942	HP:0000648	Optic atrophy
OMIM:251300	WDR73	84942	HP:0001249	Intellectual disability
ORPHANET:955	NOTCH2	4853	HP:0002205	Recurrent respiratory infections
ORPHANET:955	NOTCH2	4853	HP:0001643	Patent ductus arteriosus
ORPHANET:955	NOTCH2	4853	HP:0000343	Long philtrum
ORPHANET:955	NOTCH2	4853	HP:0100760	Clubbing of toes
ORPHANET:955	NOTCH2	4853	HP:0009882	Short distal phalanx of finger
ORPHANET:955	NOTCH2	4853	HP:0009830	Peripheral neuropathy
ORPHANET:955	NOTCH2	4853	HP:0000293	Full cheeks
ORPHANET:955	NOTCH2	4853	HP:0002999	Patellar dislocation
ORPHANET:955	NOTCH2	4853	HP:0000768	Pectus carinatum
ORPHANET:955	NOTCH2	4853	HP:0001831	Short toe
ORPHANET:955	NOTCH2	4853	HP:0000431	Wide nasal bridge
ORPHANET:955	NOTCH2	4853	HP:0100627	Displacement of the external urethral meatus
ORPHANET:955	NOTCH2	4853	HP:0004493	Craniofacial hyperostosis
ORPHANET:955	NOTCH2	4853	HP:0004349	Reduced bone mineral density
ORPHANET:955	NOTCH2	4853	HP:0000494	Downslanted palpebral fissures
ORPHANET:955	NOTCH2	4853	HP:0000612	Iris coloboma
ORPHANET:955	NOTCH2	4853	HP:0002757	Recurrent fractures
ORPHANET:955	NOTCH2	4853	HP:0002167	Neurological speech impairment
ORPHANET:955	NOTCH2	4853	HP:0000256	Macrocephaly
ORPHANET:955	NOTCH2	4853	HP:0000294	Low anterior hairline
ORPHANET:955	NOTCH2	4853	HP:0000365	Hearing impairment
ORPHANET:955	NOTCH2	4853	HP:0002308	Arnold-Chiari malformation
ORPHANET:955	NOTCH2	4853	HP:0006487	Bowing of the long bones
ORPHANET:955	NOTCH2	4853	HP:0001744	Splenomegaly
ORPHANET:955	NOTCH2	4853	HP:0001646	Abnormality of the aortic valve
ORPHANET:955	NOTCH2	4853	HP:0000316	Hypertelorism
ORPHANET:955	NOTCH2	4853	HP:0000470	Short neck
ORPHANET:955	NOTCH2	4853	HP:0000664	Synophrys
ORPHANET:955	NOTCH2	4853	HP:0002829	Arthralgia
ORPHANET:955	NOTCH2	4853	HP:0001231	Abnormality of the fingernails
ORPHANET:955	NOTCH2	4853	HP:0002808	Kyphosis
ORPHANET:955	NOTCH2	4853	HP:0000233	Thin vermilion border
ORPHANET:955	NOTCH2	4853	HP:0001156	Brachydactyly syndrome
ORPHANET:955	NOTCH2	4853	HP:0002076	Migraine
ORPHANET:955	NOTCH2	4853	HP:0000347	Micrognathia
ORPHANET:955	NOTCH2	4853	HP:0000574	Thick eyebrow
ORPHANET:955	NOTCH2	4853	HP:0001072	Thickened skin
ORPHANET:955	NOTCH2	4853	HP:0002797	Osteolysis
ORPHANET:955	NOTCH2	4853	HP:0001718	Mitral stenosis
ORPHANET:955	NOTCH2	4853	HP:0000545	Myopia
ORPHANET:955	NOTCH2	4853	HP:0000958	Dry skin
ORPHANET:955	NOTCH2	4853	HP:0000175	Cleft palate
ORPHANET:955	NOTCH2	4853	HP:0001382	Joint hypermobility
ORPHANET:955	NOTCH2	4853	HP:0001608	Abnormality of the voice
ORPHANET:955	NOTCH2	4853	HP:0002650	Scoliosis
ORPHANET:955	NOTCH2	4853	HP:0001537	Umbilical hernia
ORPHANET:955	NOTCH2	4853	HP:0002645	Wormian bones
ORPHANET:955	NOTCH2	4853	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
ORPHANET:955	NOTCH2	4853	HP:0000238	Hydrocephalus
ORPHANET:955	NOTCH2	4853	HP:0000268	Dolichocephaly
ORPHANET:955	NOTCH2	4853	HP:0002240	Hepatomegaly
ORPHANET:955	NOTCH2	4853	HP:0002566	Intestinal malrotation
ORPHANET:955	NOTCH2	4853	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:955	NOTCH2	4853	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:955	NOTCH2	4853	HP:0000113	Polycystic kidney dysplasia
ORPHANET:955	NOTCH2	4853	HP:0000269	Prominent occiput
ORPHANET:955	NOTCH2	4853	HP:0000463	Anteverted nares
ORPHANET:955	NOTCH2	4853	HP:0001629	Ventricular septal defect
ORPHANET:955	NOTCH2	4853	HP:0000704	Periodontitis
ORPHANET:955	NOTCH2	4853	HP:0000280	Coarse facial features
ORPHANET:955	NOTCH2	4853	HP:0200042	Skin ulcer
ORPHANET:955	NOTCH2	4853	HP:0000689	Dental malocclusion
ORPHANET:955	NOTCH2	4853	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:955	NOTCH2	4853	HP:0000160	Narrow mouth
ORPHANET:955	NOTCH2	4853	HP:0000506	Telecanthus
ORPHANET:955	NOTCH2	4853	HP:0004331	Decreased skull ossification
ORPHANET:955	NOTCH2	4853	HP:0000518	Cataract
ORPHANET:955	NOTCH2	4853	HP:0002714	Downturned corners of mouth
ORPHANET:955	NOTCH2	4853	HP:0002653	Bone pain
ORPHANET:955	NOTCH2	4853	HP:0002208	Coarse hair
OMIM:616361	DNAJC13	23317	HP:0001337	Tremor
OMIM:616361	DNAJC13	23317	HP:0001300	Parkinsonism
OMIM:616361	DNAJC13	23317	HP:0002067	Bradykinesia
OMIM:616361	DNAJC13	23317	HP:0002172	Postural instability
OMIM:616361	DNAJC13	23317	HP:0002063	Rigidity
OMIM:616361	GBA	2629	HP:0001337	Tremor
OMIM:616361	GBA	2629	HP:0001300	Parkinsonism
OMIM:616361	GBA	2629	HP:0002067	Bradykinesia
OMIM:616361	GBA	2629	HP:0002172	Postural instability
OMIM:616361	GBA	2629	HP:0002063	Rigidity
OMIM:616361	VPS35	55737	HP:0001337	Tremor
OMIM:616361	VPS35	55737	HP:0001300	Parkinsonism
OMIM:616361	VPS35	55737	HP:0002067	Bradykinesia
OMIM:616361	VPS35	55737	HP:0002172	Postural instability
OMIM:616361	VPS35	55737	HP:0002063	Rigidity
OMIM:616361	GIGYF2	26058	HP:0001337	Tremor
OMIM:616361	GIGYF2	26058	HP:0001300	Parkinsonism
OMIM:616361	GIGYF2	26058	HP:0002067	Bradykinesia
OMIM:616361	GIGYF2	26058	HP:0002172	Postural instability
OMIM:616361	GIGYF2	26058	HP:0002063	Rigidity
OMIM:616361	LRRK2	120892	HP:0001337	Tremor
OMIM:616361	LRRK2	120892	HP:0001300	Parkinsonism
OMIM:616361	LRRK2	120892	HP:0002067	Bradykinesia
OMIM:616361	LRRK2	120892	HP:0002172	Postural instability
OMIM:616361	LRRK2	120892	HP:0002063	Rigidity
OMIM:616361	EIF4G1	1981	HP:0001337	Tremor
OMIM:616361	EIF4G1	1981	HP:0001300	Parkinsonism
OMIM:616361	EIF4G1	1981	HP:0002067	Bradykinesia
OMIM:616361	EIF4G1	1981	HP:0002172	Postural instability
OMIM:616361	EIF4G1	1981	HP:0002063	Rigidity
OMIM:616361	SNCA	6622	HP:0001337	Tremor
OMIM:616361	SNCA	6622	HP:0001300	Parkinsonism
OMIM:616361	SNCA	6622	HP:0002067	Bradykinesia
OMIM:616361	SNCA	6622	HP:0002172	Postural instability
OMIM:616361	SNCA	6622	HP:0002063	Rigidity
OMIM:257850	GJA1	2697	HP:0004322	Short stature
OMIM:257850	GJA1	2697	HP:0000160	Narrow mouth
OMIM:257850	GJA1	2697	HP:0005622	Broad long bones
OMIM:257850	GJA1	2697	HP:0002750	Delayed skeletal maturation
OMIM:257850	GJA1	2697	HP:0009748	Large earlobe
OMIM:257850	GJA1	2697	HP:0000545	Myopia
OMIM:257850	GJA1	2697	HP:0000343	Long philtrum
OMIM:257850	GJA1	2697	HP:0000685	Hypoplasia of teeth
OMIM:257850	GJA1	2697	HP:0200055	Small hand
OMIM:257850	GJA1	2697	HP:0000347	Micrognathia
OMIM:257850	GJA1	2697	HP:0000518	Cataract
OMIM:257850	GJA1	2697	HP:0000233	Thin vermilion border
OMIM:257850	GJA1	2697	HP:0000653	Sparse eyelashes
OMIM:257850	GJA1	2697	HP:0000682	Abnormality of dental enamel
OMIM:257850	GJA1	2697	HP:0001773	Short foot
OMIM:257850	GJA1	2697	HP:0002007	Frontal bossing
OMIM:257850	GJA1	2697	HP:0003189	Long nose
OMIM:257850	GJA1	2697	HP:0012745	Short palpebral fissure
OMIM:257850	GJA1	2697	HP:0000506	Telecanthus
OMIM:257850	GJA1	2697	HP:0000689	Dental malocclusion
OMIM:257850	GJA1	2697	HP:0000327	Hypoplasia of the maxilla
OMIM:257850	GJA1	2697	HP:0001508	Failure to thrive
OMIM:257850	GJA1	2697	HP:0000482	Microcornea
OMIM:257850	GJA1	2697	HP:0000369	Low-set ears
OMIM:257850	GJA1	2697	HP:0000678	Dental crowding
OMIM:257850	GJA1	2697	HP:0000684	Delayed eruption of teeth
OMIM:257850	GJA1	2697	HP:0000248	Brachycephaly
OMIM:257850	GJA1	2697	HP:0000568	Microphthalmia
OMIM:257850	GJA1	2697	HP:0000430	Underdeveloped nasal alae
OMIM:257850	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:257850	GJA1	2697	HP:0000494	Downslanted palpebral fissures
OMIM:257850	GJA1	2697	HP:0009917	Persistent pupillary membrane
OMIM:257850	GJA1	2697	HP:0006482	Abnormality of dental morphology
OMIM:257850	GJA1	2697	HP:0001263	Global developmental delay
OMIM:300423	ATP6AP2	10159	HP:0002069	Generalized tonic-clonic seizures
OMIM:300423	ATP6AP2	10159	HP:0001270	Motor delay
OMIM:300423	ATP6AP2	10159	HP:0001419	X-linked recessive inheritance
OMIM:300423	ATP6AP2	10159	HP:0003593	Infantile onset
OMIM:300423	ATP6AP2	10159	HP:0001249	Intellectual disability
OMIM:300423	ATP6AP2	10159	HP:0000750	Delayed speech and language development
OMIM:615851	SEPSECS	51091	HP:0001371	Flexion contracture
OMIM:615851	SEPSECS	51091	HP:0001249	Intellectual disability
OMIM:615851	SEPSECS	51091	HP:0001263	Global developmental delay
OMIM:615851	SEPSECS	51091	HP:0002650	Scoliosis
OMIM:615851	SEPSECS	51091	HP:0002179	Opisthotonus
OMIM:615851	SEPSECS	51091	HP:0004322	Short stature
OMIM:615851	SEPSECS	51091	HP:0001250	Seizures
OMIM:615851	SEPSECS	51091	HP:0002510	Spastic tetraplegia
OMIM:615851	SEPSECS	51091	HP:0000252	Microcephaly
OMIM:615851	SEPSECS	51091	HP:0001319	Neonatal hypotonia
OMIM:615851	SEPSECS	51091	HP:0000737	Irritability
OMIM:615851	SEPSECS	51091	HP:0001272	Cerebellar atrophy
OMIM:615851	SEPSECS	51091	HP:0002059	Cerebral atrophy
OMIM:615851	SEPSECS	51091	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615851	SEPSECS	51091	HP:0000939	Osteoporosis
OMIM:615851	VPS53	55275	HP:0001371	Flexion contracture
OMIM:615851	VPS53	55275	HP:0001249	Intellectual disability
OMIM:615851	VPS53	55275	HP:0001263	Global developmental delay
OMIM:615851	VPS53	55275	HP:0002650	Scoliosis
OMIM:615851	VPS53	55275	HP:0002179	Opisthotonus
OMIM:615851	VPS53	55275	HP:0004322	Short stature
OMIM:615851	VPS53	55275	HP:0001250	Seizures
OMIM:615851	VPS53	55275	HP:0002510	Spastic tetraplegia
OMIM:615851	VPS53	55275	HP:0000252	Microcephaly
OMIM:615851	VPS53	55275	HP:0001319	Neonatal hypotonia
OMIM:615851	VPS53	55275	HP:0000737	Irritability
OMIM:615851	VPS53	55275	HP:0001272	Cerebellar atrophy
OMIM:615851	VPS53	55275	HP:0002059	Cerebral atrophy
OMIM:615851	VPS53	55275	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615851	VPS53	55275	HP:0000939	Osteoporosis
OMIM:209885	TWIST2	117581	HP:0000233	Thin vermilion border
OMIM:209885	TWIST2	117581	HP:0000998	Hypertrichosis
OMIM:209885	TWIST2	117581	HP:0000369	Low-set ears
OMIM:209885	TWIST2	117581	HP:0000684	Delayed eruption of teeth
OMIM:209885	TWIST2	117581	HP:0000413	Atresia of the external auditory canal
OMIM:209885	TWIST2	117581	HP:0000055	Abnormality of female external genitalia
OMIM:209885	TWIST2	117581	HP:0000506	Telecanthus
OMIM:209885	TWIST2	117581	HP:0000958	Dry skin
OMIM:209885	TWIST2	117581	HP:0000535	Sparse eyebrow
OMIM:209885	TWIST2	117581	HP:0000499	Abnormality of the eyelashes
OMIM:209885	TWIST2	117581	HP:0008572	External ear malformation
OMIM:209885	TWIST2	117581	HP:0000974	Hyperextensible skin
OMIM:209885	TWIST2	117581	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:209885	TWIST2	117581	HP:0000973	Cutis laxa
OMIM:209885	TWIST2	117581	HP:0000463	Anteverted nares
OMIM:209885	TWIST2	117581	HP:0000303	Mandibular prognathia
OMIM:209885	TWIST2	117581	HP:0000218	High palate
OMIM:209885	TWIST2	117581	HP:0002557	Hypoplastic nipples
OMIM:209885	TWIST2	117581	HP:0000154	Wide mouth
OMIM:209885	TWIST2	117581	HP:0000365	Hearing impairment
OMIM:209885	TWIST2	117581	HP:0001582	Redundant skin
OMIM:209885	TWIST2	117581	HP:0000032	Abnormality of male external genitalia
OMIM:209885	TWIST2	117581	HP:0000364	Hearing abnormality
OMIM:209885	TWIST2	117581	HP:0000377	Abnormality of the pinna
OMIM:209885	TWIST2	117581	HP:0004334	Dermal atrophy
OMIM:209885	TWIST2	117581	HP:0000414	Bulbous nose
OMIM:209885	TWIST2	117581	HP:0000006	Autosomal dominant inheritance
OMIM:209885	TWIST2	117581	HP:0000316	Hypertelorism
OMIM:209885	TWIST2	117581	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:209885	TWIST2	117581	HP:0001249	Intellectual disability
OMIM:209885	TWIST2	117581	HP:0000347	Micrognathia
OMIM:209885	TWIST2	117581	HP:0000430	Underdeveloped nasal alae
OMIM:209885	TWIST2	117581	HP:0000049	Shawl scrotum
OMIM:268310	ROR2	4920	HP:0001171	Split hand
OMIM:268310	ROR2	4920	HP:0000028	Cryptorchidism
OMIM:268310	ROR2	4920	HP:0012368	Flat face
OMIM:268310	ROR2	4920	HP:0000582	Upslanted palpebral fissure
OMIM:268310	ROR2	4920	HP:0000054	Micropenis
OMIM:268310	ROR2	4920	HP:0001841	Preaxial foot polydactyly
OMIM:268310	ROR2	4920	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:268310	ROR2	4920	HP:0000470	Short neck
OMIM:268310	ROR2	4920	HP:0000316	Hypertelorism
OMIM:268310	ROR2	4920	HP:0100543	Cognitive impairment
OMIM:268310	ROR2	4920	HP:0002750	Delayed skeletal maturation
OMIM:268310	ROR2	4920	HP:0000486	Strabismus
OMIM:268310	ROR2	4920	HP:0000508	Ptosis
OMIM:268310	ROR2	4920	HP:0001629	Ventricular septal defect
OMIM:268310	ROR2	4920	HP:0004279	Short palm
OMIM:268310	ROR2	4920	HP:0009602	Abnormality of thumb phalanx
OMIM:268310	ROR2	4920	HP:0006101	Finger syndactyly
OMIM:268310	ROR2	4920	HP:0002007	Frontal bossing
OMIM:268310	ROR2	4920	HP:0000256	Macrocephaly
OMIM:268310	ROR2	4920	HP:0011800	Hypoplasia of midface
OMIM:268310	ROR2	4920	HP:0100490	Camptodactyly of finger
OMIM:268310	ROR2	4920	HP:0000527	Long eyelashes
OMIM:268310	ROR2	4920	HP:0004220	Short middle phalanx of the 5th finger
OMIM:268310	ROR2	4920	HP:0000592	Blue sclerae
OMIM:268310	ROR2	4920	HP:0001641	Abnormality of the pulmonary valve
OMIM:268310	ROR2	4920	HP:0003196	Short nose
OMIM:268310	ROR2	4920	HP:0000343	Long philtrum
OMIM:268310	ROR2	4920	HP:0000499	Abnormality of the eyelashes
OMIM:268310	ROR2	4920	HP:0004322	Short stature
OMIM:268310	ROR2	4920	HP:0000272	Malar flattening
OMIM:268310	ROR2	4920	HP:0000322	Short philtrum
OMIM:268310	ROR2	4920	HP:0001852	Sandal gap
OMIM:268310	ROR2	4920	HP:0002714	Downturned corners of mouth
OMIM:268310	ROR2	4920	HP:0000055	Abnormality of female external genitalia
OMIM:268310	ROR2	4920	HP:0001770	Toe syndactyly
OMIM:268310	ROR2	4920	HP:0000154	Wide mouth
OMIM:268310	ROR2	4920	HP:0003272	Abnormality of the hip bone
OMIM:268310	ROR2	4920	HP:0000126	Hydronephrosis
OMIM:268310	ROR2	4920	HP:0002983	Micromelia
OMIM:268310	ROR2	4920	HP:0001537	Umbilical hernia
OMIM:268310	ROR2	4920	HP:0009466	Radial deviation of finger
OMIM:268310	ROR2	4920	HP:0001156	Brachydactyly syndrome
OMIM:268310	ROR2	4920	HP:0000023	Inguinal hernia
OMIM:268310	ROR2	4920	HP:0001679	Abnormality of the aorta
OMIM:268310	ROR2	4920	HP:0001636	Tetralogy of Fallot
OMIM:268310	ROR2	4920	HP:0000520	Proptosis
OMIM:268310	ROR2	4920	HP:0001249	Intellectual disability
OMIM:268310	ROR2	4920	HP:0000767	Pectus excavatum
OMIM:268310	ROR2	4920	HP:0000003	Multicystic kidney dysplasia
OMIM:268310	ROR2	4920	HP:0000174	Abnormality of the palate
OMIM:268310	ROR2	4920	HP:0005048	Synostosis of carpal bones
OMIM:268310	ROR2	4920	HP:0001702	Abnormality of the tricuspid valve
OMIM:268310	ROR2	4920	HP:0002205	Recurrent respiratory infections
OMIM:268310	ROR2	4920	HP:0000219	Thin upper lip vermilion
OMIM:268310	ROR2	4920	HP:0005280	Depressed nasal bridge
OMIM:268310	ROR2	4920	HP:0008736	Hypoplasia of penis
OMIM:268310	ROR2	4920	HP:0000075	Renal duplication
OMIM:268310	ROR2	4920	HP:0000431	Wide nasal bridge
OMIM:268310	ROR2	4920	HP:0001837	Broad toe
OMIM:268310	ROR2	4920	HP:0000007	Autosomal recessive inheritance
OMIM:268310	ROR2	4920	HP:0010804	Tented upper lip vermilion
OMIM:268310	ROR2	4920	HP:0000158	Macroglossia
OMIM:268310	ROR2	4920	HP:0000494	Downslanted palpebral fissures
OMIM:268310	ROR2	4920	HP:0000954	Single transverse palmar crease
OMIM:268310	ROR2	4920	HP:0000212	Gingival overgrowth
OMIM:268310	ROR2	4920	HP:0000368	Low-set, posteriorly rotated ears
OMIM:268310	ROR2	4920	HP:0004209	Clinodactyly of the 5th finger
OMIM:268310	ROR2	4920	HP:0000921	Missing ribs
OMIM:268310	ROR2	4920	HP:0000689	Dental malocclusion
OMIM:268310	ROR2	4920	HP:0000347	Micrognathia
OMIM:268310	ROR2	4920	HP:0000278	Retrognathia
OMIM:268310	ROR2	4920	HP:0000772	Abnormality of the ribs
OMIM:268310	ROR2	4920	HP:0010296	Ankyloglossia
OMIM:268310	ROR2	4920	HP:0000358	Posteriorly rotated ears
OMIM:268310	ROR2	4920	HP:0000768	Pectus carinatum
OMIM:268310	ROR2	4920	HP:0003422	Vertebral segmentation defect
OMIM:268310	ROR2	4920	HP:0030084	Clinodactyly
OMIM:268310	ROR2	4920	HP:0000463	Anteverted nares
OMIM:268310	ROR2	4920	HP:0000369	Low-set ears
OMIM:268310	ROR2	4920	HP:0001263	Global developmental delay
OMIM:268310	ROR2	4920	HP:0009804	Reduced number of teeth
OMIM:268310	ROR2	4920	HP:0002808	Kyphosis
OMIM:268310	ROR2	4920	HP:0011304	Broad thumb
OMIM:268310	ROR2	4920	HP:0001596	Alopecia
OMIM:268310	ROR2	4920	HP:0000388	Otitis media
OMIM:268310	ROR2	4920	HP:0002650	Scoliosis
OMIM:268310	ROR2	4920	HP:0000286	Epicanthus
OMIM:268310	ROR2	4920	HP:0002948	Vertebral fusion
OMIM:268310	ROR2	4920	HP:0009882	Short distal phalanx of finger
OMIM:268310	ROR2	4920	HP:0002164	Nail dysplasia
OMIM:268310	ROR2	4920	HP:0000365	Hearing impairment
OMIM:268310	ROR2	4920	HP:0001231	Abnormality of the fingernails
OMIM:268310	ROR2	4920	HP:0002944	Thoracolumbar scoliosis
OMIM:268310	ROR2	4920	HP:0000270	Delayed cranial suture closure
OMIM:268310	ROR2	4920	HP:0001631	Atria septal defect
OMIM:268310	ROR2	4920	HP:0003042	Elbow dislocation
OMIM:268310	ROR2	4920	HP:0200055	Small hand
OMIM:268310	ROR2	4920	HP:0000696	Delayed eruption of permanent teeth
OMIM:268310	ROR2	4920	HP:0000202	Oral cleft
OMIM:268310	ROR2	4920	HP:0000960	Sacral dimple
OMIM:268310	ROR2	4920	HP:0000678	Dental crowding
OMIM:268310	ROR2	4920	HP:0000207	Triangular mouth
OMIM:268310	ROR2	4920	HP:0006482	Abnormality of dental morphology
OMIM:607921	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:607921	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:607921	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	RLBP1	6017	HP:0000648	Optic atrophy
OMIM:607921	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:607921	RLBP1	6017	HP:0000505	Visual impairment
OMIM:607921	RLBP1	6017	HP:0000533	Chorioretinal atrophy
OMIM:607921	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:607921	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:607921	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	SPATA7	55812	HP:0000648	Optic atrophy
OMIM:607921	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:607921	SPATA7	55812	HP:0000505	Visual impairment
OMIM:607921	SPATA7	55812	HP:0000533	Chorioretinal atrophy
OMIM:607921	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:607921	ARL6	84100	HP:0000662	Nyctalopia
OMIM:607921	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	ARL6	84100	HP:0000648	Optic atrophy
OMIM:607921	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:607921	ARL6	84100	HP:0000505	Visual impairment
OMIM:607921	ARL6	84100	HP:0000533	Chorioretinal atrophy
OMIM:607921	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:607921	CERKL	375298	HP:0000662	Nyctalopia
OMIM:607921	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	CERKL	375298	HP:0000648	Optic atrophy
OMIM:607921	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:607921	CERKL	375298	HP:0000505	Visual impairment
OMIM:607921	CERKL	375298	HP:0000533	Chorioretinal atrophy
OMIM:607921	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:607921	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:607921	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	PRPF31	26121	HP:0000648	Optic atrophy
OMIM:607921	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:607921	PRPF31	26121	HP:0000505	Visual impairment
OMIM:607921	PRPF31	26121	HP:0000533	Chorioretinal atrophy
OMIM:607921	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:607921	TTC8	123016	HP:0000662	Nyctalopia
OMIM:607921	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	TTC8	123016	HP:0000648	Optic atrophy
OMIM:607921	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:607921	TTC8	123016	HP:0000505	Visual impairment
OMIM:607921	TTC8	123016	HP:0000533	Chorioretinal atrophy
OMIM:607921	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:607921	PROM1	8842	HP:0000662	Nyctalopia
OMIM:607921	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	PROM1	8842	HP:0000648	Optic atrophy
OMIM:607921	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:607921	PROM1	8842	HP:0000505	Visual impairment
OMIM:607921	PROM1	8842	HP:0000533	Chorioretinal atrophy
OMIM:607921	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:607921	LRAT	9227	HP:0000662	Nyctalopia
OMIM:607921	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	LRAT	9227	HP:0000648	Optic atrophy
OMIM:607921	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:607921	LRAT	9227	HP:0000505	Visual impairment
OMIM:607921	LRAT	9227	HP:0000533	Chorioretinal atrophy
OMIM:607921	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:607921	IFT140	9742	HP:0000662	Nyctalopia
OMIM:607921	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	IFT140	9742	HP:0000648	Optic atrophy
OMIM:607921	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:607921	IFT140	9742	HP:0000505	Visual impairment
OMIM:607921	IFT140	9742	HP:0000533	Chorioretinal atrophy
OMIM:607921	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:607921	BEST1	7439	HP:0000662	Nyctalopia
OMIM:607921	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	BEST1	7439	HP:0000648	Optic atrophy
OMIM:607921	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:607921	BEST1	7439	HP:0000505	Visual impairment
OMIM:607921	BEST1	7439	HP:0000533	Chorioretinal atrophy
OMIM:607921	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:607921	NEK2	4751	HP:0000662	Nyctalopia
OMIM:607921	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	NEK2	4751	HP:0000648	Optic atrophy
OMIM:607921	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:607921	NEK2	4751	HP:0000505	Visual impairment
OMIM:607921	NEK2	4751	HP:0000533	Chorioretinal atrophy
OMIM:607921	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:607921	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:607921	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	ARL2BP	23568	HP:0000648	Optic atrophy
OMIM:607921	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:607921	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:607921	ARL2BP	23568	HP:0000533	Chorioretinal atrophy
OMIM:607921	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:607921	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:607921	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	NR2E3	10002	HP:0000648	Optic atrophy
OMIM:607921	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:607921	NR2E3	10002	HP:0000505	Visual impairment
OMIM:607921	NR2E3	10002	HP:0000533	Chorioretinal atrophy
OMIM:607921	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:607921	EYS	346007	HP:0000662	Nyctalopia
OMIM:607921	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	EYS	346007	HP:0000648	Optic atrophy
OMIM:607921	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:607921	EYS	346007	HP:0000505	Visual impairment
OMIM:607921	EYS	346007	HP:0000533	Chorioretinal atrophy
OMIM:607921	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:607921	MAK	4117	HP:0000662	Nyctalopia
OMIM:607921	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	MAK	4117	HP:0000648	Optic atrophy
OMIM:607921	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:607921	MAK	4117	HP:0000505	Visual impairment
OMIM:607921	MAK	4117	HP:0000533	Chorioretinal atrophy
OMIM:607921	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:607921	SAG	6295	HP:0000662	Nyctalopia
OMIM:607921	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	SAG	6295	HP:0000648	Optic atrophy
OMIM:607921	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:607921	SAG	6295	HP:0000505	Visual impairment
OMIM:607921	SAG	6295	HP:0000533	Chorioretinal atrophy
OMIM:607921	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:607921	ABCA4	24	HP:0000662	Nyctalopia
OMIM:607921	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	ABCA4	24	HP:0000648	Optic atrophy
OMIM:607921	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:607921	ABCA4	24	HP:0000505	Visual impairment
OMIM:607921	ABCA4	24	HP:0000533	Chorioretinal atrophy
OMIM:607921	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:607921	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:607921	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	PDE6A	5145	HP:0000648	Optic atrophy
OMIM:607921	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:607921	PDE6A	5145	HP:0000505	Visual impairment
OMIM:607921	PDE6A	5145	HP:0000533	Chorioretinal atrophy
OMIM:607921	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:607921	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:607921	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	PDE6G	5148	HP:0000648	Optic atrophy
OMIM:607921	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:607921	PDE6G	5148	HP:0000505	Visual impairment
OMIM:607921	PDE6G	5148	HP:0000533	Chorioretinal atrophy
OMIM:607921	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:607921	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:607921	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	IMPDH1	3614	HP:0000648	Optic atrophy
OMIM:607921	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:607921	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:607921	IMPDH1	3614	HP:0000533	Chorioretinal atrophy
OMIM:607921	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:607921	OFD1	8481	HP:0000662	Nyctalopia
OMIM:607921	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	OFD1	8481	HP:0000648	Optic atrophy
OMIM:607921	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:607921	OFD1	8481	HP:0000505	Visual impairment
OMIM:607921	OFD1	8481	HP:0000533	Chorioretinal atrophy
OMIM:607921	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:607921	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:607921	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	GUCA1B	2979	HP:0000648	Optic atrophy
OMIM:607921	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:607921	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:607921	GUCA1B	2979	HP:0000533	Chorioretinal atrophy
OMIM:607921	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:607921	NRL	4901	HP:0000662	Nyctalopia
OMIM:607921	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	NRL	4901	HP:0000648	Optic atrophy
OMIM:607921	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:607921	NRL	4901	HP:0000505	Visual impairment
OMIM:607921	NRL	4901	HP:0000533	Chorioretinal atrophy
OMIM:607921	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:607921	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:607921	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	PDE6B	5158	HP:0000648	Optic atrophy
OMIM:607921	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:607921	PDE6B	5158	HP:0000505	Visual impairment
OMIM:607921	PDE6B	5158	HP:0000533	Chorioretinal atrophy
OMIM:607921	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:607921	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:607921	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	KLHL7	55975	HP:0000648	Optic atrophy
OMIM:607921	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:607921	KLHL7	55975	HP:0000505	Visual impairment
OMIM:607921	KLHL7	55975	HP:0000533	Chorioretinal atrophy
OMIM:607921	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:607921	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:607921	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	PRPF4	9128	HP:0000648	Optic atrophy
OMIM:607921	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:607921	PRPF4	9128	HP:0000505	Visual impairment
OMIM:607921	PRPF4	9128	HP:0000533	Chorioretinal atrophy
OMIM:607921	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:607921	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:607921	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	PRPF3	9129	HP:0000648	Optic atrophy
OMIM:607921	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:607921	PRPF3	9129	HP:0000505	Visual impairment
OMIM:607921	PRPF3	9129	HP:0000533	Chorioretinal atrophy
OMIM:607921	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:607921	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:607921	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	FAM161A	84140	HP:0000648	Optic atrophy
OMIM:607921	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:607921	FAM161A	84140	HP:0000505	Visual impairment
OMIM:607921	FAM161A	84140	HP:0000533	Chorioretinal atrophy
OMIM:607921	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:607921	IFT172	26160	HP:0000662	Nyctalopia
OMIM:607921	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	IFT172	26160	HP:0000648	Optic atrophy
OMIM:607921	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:607921	IFT172	26160	HP:0000505	Visual impairment
OMIM:607921	IFT172	26160	HP:0000533	Chorioretinal atrophy
OMIM:607921	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:607921	KIZ	55857	HP:0000662	Nyctalopia
OMIM:607921	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	KIZ	55857	HP:0000648	Optic atrophy
OMIM:607921	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:607921	KIZ	55857	HP:0000505	Visual impairment
OMIM:607921	KIZ	55857	HP:0000533	Chorioretinal atrophy
OMIM:607921	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:607921	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:607921	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	CDHR1	92211	HP:0000648	Optic atrophy
OMIM:607921	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:607921	CDHR1	92211	HP:0000505	Visual impairment
OMIM:607921	CDHR1	92211	HP:0000533	Chorioretinal atrophy
OMIM:607921	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:607921	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:607921	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	ZNF408	79797	HP:0000648	Optic atrophy
OMIM:607921	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:607921	ZNF408	79797	HP:0000505	Visual impairment
OMIM:607921	ZNF408	79797	HP:0000533	Chorioretinal atrophy
OMIM:607921	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:607921	RBP3	5949	HP:0000662	Nyctalopia
OMIM:607921	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	RBP3	5949	HP:0000648	Optic atrophy
OMIM:607921	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:607921	RBP3	5949	HP:0000505	Visual impairment
OMIM:607921	RBP3	5949	HP:0000533	Chorioretinal atrophy
OMIM:607921	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:607921	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:607921	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	HGSNAT	138050	HP:0000648	Optic atrophy
OMIM:607921	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:607921	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:607921	HGSNAT	138050	HP:0000533	Chorioretinal atrophy
OMIM:607921	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:607921	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:607921	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	FSCN2	25794	HP:0000648	Optic atrophy
OMIM:607921	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:607921	FSCN2	25794	HP:0000505	Visual impairment
OMIM:607921	FSCN2	25794	HP:0000533	Chorioretinal atrophy
OMIM:607921	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:607921	PRCD	768206	HP:0000662	Nyctalopia
OMIM:607921	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	PRCD	768206	HP:0000648	Optic atrophy
OMIM:607921	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:607921	PRCD	768206	HP:0000505	Visual impairment
OMIM:607921	PRCD	768206	HP:0000533	Chorioretinal atrophy
OMIM:607921	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:607921	BBS2	583	HP:0000662	Nyctalopia
OMIM:607921	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	BBS2	583	HP:0000648	Optic atrophy
OMIM:607921	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:607921	BBS2	583	HP:0000505	Visual impairment
OMIM:607921	BBS2	583	HP:0000533	Chorioretinal atrophy
OMIM:607921	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:607921	RDH12	145226	HP:0000662	Nyctalopia
OMIM:607921	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	RDH12	145226	HP:0000648	Optic atrophy
OMIM:607921	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:607921	RDH12	145226	HP:0000505	Visual impairment
OMIM:607921	RDH12	145226	HP:0000533	Chorioretinal atrophy
OMIM:607921	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:607921	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:607921	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	PRPH2	5961	HP:0000648	Optic atrophy
OMIM:607921	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:607921	PRPH2	5961	HP:0000505	Visual impairment
OMIM:607921	PRPH2	5961	HP:0000533	Chorioretinal atrophy
OMIM:607921	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:607921	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:607921	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	DHDDS	79947	HP:0000648	Optic atrophy
OMIM:607921	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:607921	DHDDS	79947	HP:0000505	Visual impairment
OMIM:607921	DHDDS	79947	HP:0000533	Chorioretinal atrophy
OMIM:607921	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:607921	ROM1	6094	HP:0000662	Nyctalopia
OMIM:607921	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	ROM1	6094	HP:0000648	Optic atrophy
OMIM:607921	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:607921	ROM1	6094	HP:0000505	Visual impairment
OMIM:607921	ROM1	6094	HP:0000533	Chorioretinal atrophy
OMIM:607921	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:607921	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:607921	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	C2ORF71	388939	HP:0000648	Optic atrophy
OMIM:607921	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:607921	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:607921	C2ORF71	388939	HP:0000533	Chorioretinal atrophy
OMIM:607921	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:607921	RP9	6100	HP:0000662	Nyctalopia
OMIM:607921	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	RP9	6100	HP:0000648	Optic atrophy
OMIM:607921	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:607921	RP9	6100	HP:0000505	Visual impairment
OMIM:607921	RP9	6100	HP:0000533	Chorioretinal atrophy
OMIM:607921	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:607921	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:607921	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	PRPF6	24148	HP:0000648	Optic atrophy
OMIM:607921	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:607921	PRPF6	24148	HP:0000505	Visual impairment
OMIM:607921	PRPF6	24148	HP:0000533	Chorioretinal atrophy
OMIM:607921	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:607921	RP1	6101	HP:0000662	Nyctalopia
OMIM:607921	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	RP1	6101	HP:0000648	Optic atrophy
OMIM:607921	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:607921	RP1	6101	HP:0000505	Visual impairment
OMIM:607921	RP1	6101	HP:0000533	Chorioretinal atrophy
OMIM:607921	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:607921	RP2	6102	HP:0000662	Nyctalopia
OMIM:607921	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	RP2	6102	HP:0000648	Optic atrophy
OMIM:607921	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:607921	RP2	6102	HP:0000505	Visual impairment
OMIM:607921	RP2	6102	HP:0000533	Chorioretinal atrophy
OMIM:607921	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:607921	RPGR	6103	HP:0000662	Nyctalopia
OMIM:607921	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	RPGR	6103	HP:0000648	Optic atrophy
OMIM:607921	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:607921	RPGR	6103	HP:0000505	Visual impairment
OMIM:607921	RPGR	6103	HP:0000533	Chorioretinal atrophy
OMIM:607921	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:607921	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:607921	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	SEMA4A	64218	HP:0000648	Optic atrophy
OMIM:607921	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:607921	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:607921	SEMA4A	64218	HP:0000533	Chorioretinal atrophy
OMIM:607921	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:607921	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:607921	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	C8ORF37	157657	HP:0000648	Optic atrophy
OMIM:607921	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:607921	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:607921	C8ORF37	157657	HP:0000533	Chorioretinal atrophy
OMIM:607921	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:607921	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:607921	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	IDH3B	3420	HP:0000648	Optic atrophy
OMIM:607921	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:607921	IDH3B	3420	HP:0000505	Visual impairment
OMIM:607921	IDH3B	3420	HP:0000533	Chorioretinal atrophy
OMIM:607921	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:607921	MERTK	10461	HP:0000662	Nyctalopia
OMIM:607921	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	MERTK	10461	HP:0000648	Optic atrophy
OMIM:607921	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:607921	MERTK	10461	HP:0000505	Visual impairment
OMIM:607921	MERTK	10461	HP:0000533	Chorioretinal atrophy
OMIM:607921	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:607921	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:607921	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	PRPF8	10594	HP:0000648	Optic atrophy
OMIM:607921	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:607921	PRPF8	10594	HP:0000505	Visual impairment
OMIM:607921	PRPF8	10594	HP:0000533	Chorioretinal atrophy
OMIM:607921	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:607921	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:607921	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	TOPORS	10210	HP:0000648	Optic atrophy
OMIM:607921	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:607921	TOPORS	10210	HP:0000505	Visual impairment
OMIM:607921	TOPORS	10210	HP:0000533	Chorioretinal atrophy
OMIM:607921	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:607921	USH2A	7399	HP:0000662	Nyctalopia
OMIM:607921	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	USH2A	7399	HP:0000648	Optic atrophy
OMIM:607921	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:607921	USH2A	7399	HP:0000505	Visual impairment
OMIM:607921	USH2A	7399	HP:0000533	Chorioretinal atrophy
OMIM:607921	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:607921	RPE65	6121	HP:0000662	Nyctalopia
OMIM:607921	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	RPE65	6121	HP:0000648	Optic atrophy
OMIM:607921	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:607921	RPE65	6121	HP:0000505	Visual impairment
OMIM:607921	RPE65	6121	HP:0000533	Chorioretinal atrophy
OMIM:607921	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:607921	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:607921	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	CLRN1	7401	HP:0000648	Optic atrophy
OMIM:607921	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:607921	CLRN1	7401	HP:0000505	Visual impairment
OMIM:607921	CLRN1	7401	HP:0000533	Chorioretinal atrophy
OMIM:607921	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:607921	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:607921	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	CNGB1	1258	HP:0000648	Optic atrophy
OMIM:607921	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:607921	CNGB1	1258	HP:0000505	Visual impairment
OMIM:607921	CNGB1	1258	HP:0000533	Chorioretinal atrophy
OMIM:607921	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:607921	RGR	5995	HP:0000662	Nyctalopia
OMIM:607921	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	RGR	5995	HP:0000648	Optic atrophy
OMIM:607921	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:607921	RGR	5995	HP:0000505	Visual impairment
OMIM:607921	RGR	5995	HP:0000533	Chorioretinal atrophy
OMIM:607921	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:607921	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:607921	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	CNGA1	1259	HP:0000648	Optic atrophy
OMIM:607921	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:607921	CNGA1	1259	HP:0000505	Visual impairment
OMIM:607921	CNGA1	1259	HP:0000533	Chorioretinal atrophy
OMIM:607921	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:607921	TUB	7275	HP:0000662	Nyctalopia
OMIM:607921	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	TUB	7275	HP:0000648	Optic atrophy
OMIM:607921	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:607921	TUB	7275	HP:0000505	Visual impairment
OMIM:607921	TUB	7275	HP:0000533	Chorioretinal atrophy
OMIM:607921	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:607921	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:607921	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	SNRNP200	23020	HP:0000648	Optic atrophy
OMIM:607921	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:607921	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:607921	SNRNP200	23020	HP:0000533	Chorioretinal atrophy
OMIM:607921	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:607921	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:607921	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	SLC7A14	57709	HP:0000648	Optic atrophy
OMIM:607921	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:607921	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:607921	SLC7A14	57709	HP:0000533	Chorioretinal atrophy
OMIM:607921	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:607921	TULP1	7287	HP:0000662	Nyctalopia
OMIM:607921	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	TULP1	7287	HP:0000648	Optic atrophy
OMIM:607921	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:607921	TULP1	7287	HP:0000505	Visual impairment
OMIM:607921	TULP1	7287	HP:0000533	Chorioretinal atrophy
OMIM:607921	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:607921	RHO	6010	HP:0000662	Nyctalopia
OMIM:607921	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	RHO	6010	HP:0000648	Optic atrophy
OMIM:607921	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:607921	RHO	6010	HP:0000505	Visual impairment
OMIM:607921	RHO	6010	HP:0000533	Chorioretinal atrophy
OMIM:607921	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:607921	CA4	762	HP:0000662	Nyctalopia
OMIM:607921	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	CA4	762	HP:0000648	Optic atrophy
OMIM:607921	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:607921	CA4	762	HP:0000505	Visual impairment
OMIM:607921	CA4	762	HP:0000533	Chorioretinal atrophy
OMIM:607921	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:607921	CRB1	23418	HP:0000662	Nyctalopia
OMIM:607921	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	CRB1	23418	HP:0000648	Optic atrophy
OMIM:607921	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:607921	CRB1	23418	HP:0000505	Visual impairment
OMIM:607921	CRB1	23418	HP:0000533	Chorioretinal atrophy
OMIM:607921	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:607921	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:607921	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	IMPG2	50939	HP:0000648	Optic atrophy
OMIM:607921	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:607921	IMPG2	50939	HP:0000505	Visual impairment
OMIM:607921	IMPG2	50939	HP:0000533	Chorioretinal atrophy
OMIM:607921	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:607921	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:607921	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	ZNF513	130557	HP:0000648	Optic atrophy
OMIM:607921	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:607921	ZNF513	130557	HP:0000505	Visual impairment
OMIM:607921	ZNF513	130557	HP:0000533	Chorioretinal atrophy
OMIM:607921	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:607921	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:607921	CRX	1406	HP:0000662	Nyctalopia
OMIM:607921	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:607921	CRX	1406	HP:0000648	Optic atrophy
OMIM:607921	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:607921	CRX	1406	HP:0000505	Visual impairment
OMIM:607921	CRX	1406	HP:0000533	Chorioretinal atrophy
OMIM:516050	COX3	4514	HP:0003674	Onset
OMIM:516050	COX3	4514	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:516050	COX3	4514	HP:0000543	Optic disc pallor
OMIM:516050	COX3	4514	HP:0002315	Headache
OMIM:516050	COX3	4514	HP:0001427	Mitochondrial inheritance
OMIM:600635	NKX2-1	7080	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:300857	TREM2	54209	HP:0002305	Athetosis
OMIM:300857	TREM2	54209	HP:0003581	Adult onset
OMIM:300857	TREM2	54209	HP:0001332	Dystonia
OMIM:300857	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	TREM2	54209	HP:0001260	Dysarthria
OMIM:300857	TREM2	54209	HP:0002015	Dysphagia
OMIM:300857	VAPB	9217	HP:0002305	Athetosis
OMIM:300857	VAPB	9217	HP:0003581	Adult onset
OMIM:300857	VAPB	9217	HP:0001332	Dystonia
OMIM:300857	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	VAPB	9217	HP:0001260	Dysarthria
OMIM:300857	VAPB	9217	HP:0002015	Dysphagia
OMIM:300857	PON1	5444	HP:0002305	Athetosis
OMIM:300857	PON1	5444	HP:0003581	Adult onset
OMIM:300857	PON1	5444	HP:0001332	Dystonia
OMIM:300857	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	PON1	5444	HP:0001260	Dysarthria
OMIM:300857	PON1	5444	HP:0002015	Dysphagia
OMIM:300857	PON2	5445	HP:0002305	Athetosis
OMIM:300857	PON2	5445	HP:0003581	Adult onset
OMIM:300857	PON2	5445	HP:0001332	Dystonia
OMIM:300857	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	PON2	5445	HP:0001260	Dysarthria
OMIM:300857	PON2	5445	HP:0002015	Dysphagia
OMIM:300857	PON3	5446	HP:0002305	Athetosis
OMIM:300857	PON3	5446	HP:0003581	Adult onset
OMIM:300857	PON3	5446	HP:0001332	Dystonia
OMIM:300857	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	PON3	5446	HP:0001260	Dysarthria
OMIM:300857	PON3	5446	HP:0002015	Dysphagia
OMIM:300857	NEFH	4744	HP:0002305	Athetosis
OMIM:300857	NEFH	4744	HP:0003581	Adult onset
OMIM:300857	NEFH	4744	HP:0001332	Dystonia
OMIM:300857	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	NEFH	4744	HP:0001260	Dysarthria
OMIM:300857	NEFH	4744	HP:0002015	Dysphagia
OMIM:300857	DAO	1610	HP:0002305	Athetosis
OMIM:300857	DAO	1610	HP:0003581	Adult onset
OMIM:300857	DAO	1610	HP:0001332	Dystonia
OMIM:300857	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	DAO	1610	HP:0001260	Dysarthria
OMIM:300857	DAO	1610	HP:0002015	Dysphagia
OMIM:300857	TARDBP	23435	HP:0002305	Athetosis
OMIM:300857	TARDBP	23435	HP:0003581	Adult onset
OMIM:300857	TARDBP	23435	HP:0001332	Dystonia
OMIM:300857	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	TARDBP	23435	HP:0001260	Dysarthria
OMIM:300857	TARDBP	23435	HP:0002015	Dysphagia
OMIM:300857	PPARGC1A	10891	HP:0002305	Athetosis
OMIM:300857	PPARGC1A	10891	HP:0003581	Adult onset
OMIM:300857	PPARGC1A	10891	HP:0001332	Dystonia
OMIM:300857	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	PPARGC1A	10891	HP:0001260	Dysarthria
OMIM:300857	PPARGC1A	10891	HP:0002015	Dysphagia
OMIM:300857	ERBB4	2066	HP:0002305	Athetosis
OMIM:300857	ERBB4	2066	HP:0003581	Adult onset
OMIM:300857	ERBB4	2066	HP:0001332	Dystonia
OMIM:300857	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	ERBB4	2066	HP:0001260	Dysarthria
OMIM:300857	ERBB4	2066	HP:0002015	Dysphagia
OMIM:300857	CHCHD10	400916	HP:0002305	Athetosis
OMIM:300857	CHCHD10	400916	HP:0003581	Adult onset
OMIM:300857	CHCHD10	400916	HP:0001332	Dystonia
OMIM:300857	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:300857	CHCHD10	400916	HP:0002015	Dysphagia
OMIM:300857	OPTN	10133	HP:0002305	Athetosis
OMIM:300857	OPTN	10133	HP:0003581	Adult onset
OMIM:300857	OPTN	10133	HP:0001332	Dystonia
OMIM:300857	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	OPTN	10133	HP:0001260	Dysarthria
OMIM:300857	OPTN	10133	HP:0002015	Dysphagia
OMIM:300857	FUS	2521	HP:0002305	Athetosis
OMIM:300857	FUS	2521	HP:0003581	Adult onset
OMIM:300857	FUS	2521	HP:0001332	Dystonia
OMIM:300857	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	FUS	2521	HP:0001260	Dysarthria
OMIM:300857	FUS	2521	HP:0002015	Dysphagia
OMIM:300857	UBQLN2	29978	HP:0002305	Athetosis
OMIM:300857	UBQLN2	29978	HP:0003581	Adult onset
OMIM:300857	UBQLN2	29978	HP:0001332	Dystonia
OMIM:300857	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	UBQLN2	29978	HP:0001260	Dysarthria
OMIM:300857	UBQLN2	29978	HP:0002015	Dysphagia
OMIM:300857	ANG	283	HP:0002305	Athetosis
OMIM:300857	ANG	283	HP:0003581	Adult onset
OMIM:300857	ANG	283	HP:0001332	Dystonia
OMIM:300857	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	ANG	283	HP:0001260	Dysarthria
OMIM:300857	ANG	283	HP:0002015	Dysphagia
OMIM:300857	C9ORF72	203228	HP:0002305	Athetosis
OMIM:300857	C9ORF72	203228	HP:0003581	Adult onset
OMIM:300857	C9ORF72	203228	HP:0001332	Dystonia
OMIM:300857	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:300857	C9ORF72	203228	HP:0002015	Dysphagia
OMIM:300857	PFN1	5216	HP:0002305	Athetosis
OMIM:300857	PFN1	5216	HP:0003581	Adult onset
OMIM:300857	PFN1	5216	HP:0001332	Dystonia
OMIM:300857	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	PFN1	5216	HP:0001260	Dysarthria
OMIM:300857	PFN1	5216	HP:0002015	Dysphagia
OMIM:300857	ATXN2	6311	HP:0002305	Athetosis
OMIM:300857	ATXN2	6311	HP:0003581	Adult onset
OMIM:300857	ATXN2	6311	HP:0001332	Dystonia
OMIM:300857	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	ATXN2	6311	HP:0001260	Dysarthria
OMIM:300857	ATXN2	6311	HP:0002015	Dysphagia
OMIM:300857	DCTN1	1639	HP:0002305	Athetosis
OMIM:300857	DCTN1	1639	HP:0003581	Adult onset
OMIM:300857	DCTN1	1639	HP:0001332	Dystonia
OMIM:300857	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	DCTN1	1639	HP:0001260	Dysarthria
OMIM:300857	DCTN1	1639	HP:0002015	Dysphagia
OMIM:300857	FIG4	9896	HP:0002305	Athetosis
OMIM:300857	FIG4	9896	HP:0003581	Adult onset
OMIM:300857	FIG4	9896	HP:0001332	Dystonia
OMIM:300857	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	FIG4	9896	HP:0001260	Dysarthria
OMIM:300857	FIG4	9896	HP:0002015	Dysphagia
OMIM:300857	HNRNPA1	3178	HP:0002305	Athetosis
OMIM:300857	HNRNPA1	3178	HP:0003581	Adult onset
OMIM:300857	HNRNPA1	3178	HP:0001332	Dystonia
OMIM:300857	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	HNRNPA1	3178	HP:0001260	Dysarthria
OMIM:300857	HNRNPA1	3178	HP:0002015	Dysphagia
OMIM:300857	SQSTM1	8878	HP:0002305	Athetosis
OMIM:300857	SQSTM1	8878	HP:0003581	Adult onset
OMIM:300857	SQSTM1	8878	HP:0001332	Dystonia
OMIM:300857	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:300857	SQSTM1	8878	HP:0002015	Dysphagia
OMIM:300857	UNC13A	23025	HP:0002305	Athetosis
OMIM:300857	UNC13A	23025	HP:0003581	Adult onset
OMIM:300857	UNC13A	23025	HP:0001332	Dystonia
OMIM:300857	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	UNC13A	23025	HP:0001260	Dysarthria
OMIM:300857	UNC13A	23025	HP:0002015	Dysphagia
OMIM:300857	MATR3	9782	HP:0002305	Athetosis
OMIM:300857	MATR3	9782	HP:0003581	Adult onset
OMIM:300857	MATR3	9782	HP:0001332	Dystonia
OMIM:300857	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	MATR3	9782	HP:0001260	Dysarthria
OMIM:300857	MATR3	9782	HP:0002015	Dysphagia
OMIM:300857	TBK1	29110	HP:0002305	Athetosis
OMIM:300857	TBK1	29110	HP:0003581	Adult onset
OMIM:300857	TBK1	29110	HP:0001332	Dystonia
OMIM:300857	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	TBK1	29110	HP:0001260	Dysarthria
OMIM:300857	TBK1	29110	HP:0002015	Dysphagia
OMIM:300857	SOD1	6647	HP:0002305	Athetosis
OMIM:300857	SOD1	6647	HP:0003581	Adult onset
OMIM:300857	SOD1	6647	HP:0001332	Dystonia
OMIM:300857	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	SOD1	6647	HP:0001260	Dysarthria
OMIM:300857	SOD1	6647	HP:0002015	Dysphagia
OMIM:300857	VCP	7415	HP:0002305	Athetosis
OMIM:300857	VCP	7415	HP:0003581	Adult onset
OMIM:300857	VCP	7415	HP:0001332	Dystonia
OMIM:300857	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	VCP	7415	HP:0001260	Dysarthria
OMIM:300857	VCP	7415	HP:0002015	Dysphagia
OMIM:300857	CHMP2B	25978	HP:0002305	Athetosis
OMIM:300857	CHMP2B	25978	HP:0003581	Adult onset
OMIM:300857	CHMP2B	25978	HP:0001332	Dystonia
OMIM:300857	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	CHMP2B	25978	HP:0001260	Dysarthria
OMIM:300857	CHMP2B	25978	HP:0002015	Dysphagia
OMIM:300857	PRPH	5630	HP:0002305	Athetosis
OMIM:300857	PRPH	5630	HP:0003581	Adult onset
OMIM:300857	PRPH	5630	HP:0001332	Dystonia
OMIM:300857	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:300857	PRPH	5630	HP:0001260	Dysarthria
OMIM:300857	PRPH	5630	HP:0002015	Dysphagia
OMIM:606996	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:606996	WDR19	57728	HP:0001903	Anemia
OMIM:606996	WDR19	57728	HP:0000510	Rod-cone dystrophy
OMIM:606996	WDR19	57728	HP:0001141	Severe visual impairment
OMIM:606996	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:606996	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
OMIM:606996	WDR19	57728	HP:0001583	Rotary nystagmus
OMIM:606996	WDR19	57728	HP:0000646	Amblyopia
OMIM:606996	CEP164	22897	HP:0000090	Nephronophthisis
OMIM:606996	CEP164	22897	HP:0001903	Anemia
OMIM:606996	CEP164	22897	HP:0000510	Rod-cone dystrophy
OMIM:606996	CEP164	22897	HP:0001141	Severe visual impairment
OMIM:606996	CEP164	22897	HP:0000007	Autosomal recessive inheritance
OMIM:606996	CEP164	22897	HP:0003774	Stage 5 chronic kidney disease
OMIM:606996	CEP164	22897	HP:0001583	Rotary nystagmus
OMIM:606996	CEP164	22897	HP:0000646	Amblyopia
OMIM:606996	TRAF3IP1	26146	HP:0000090	Nephronophthisis
OMIM:606996	TRAF3IP1	26146	HP:0001903	Anemia
OMIM:606996	TRAF3IP1	26146	HP:0000510	Rod-cone dystrophy
OMIM:606996	TRAF3IP1	26146	HP:0001141	Severe visual impairment
OMIM:606996	TRAF3IP1	26146	HP:0000007	Autosomal recessive inheritance
OMIM:606996	TRAF3IP1	26146	HP:0003774	Stage 5 chronic kidney disease
OMIM:606996	TRAF3IP1	26146	HP:0001583	Rotary nystagmus
OMIM:606996	TRAF3IP1	26146	HP:0000646	Amblyopia
OMIM:606996	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:606996	NPHP1	4867	HP:0001903	Anemia
OMIM:606996	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:606996	NPHP1	4867	HP:0001141	Severe visual impairment
OMIM:606996	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:606996	NPHP1	4867	HP:0003774	Stage 5 chronic kidney disease
OMIM:606996	NPHP1	4867	HP:0001583	Rotary nystagmus
OMIM:606996	NPHP1	4867	HP:0000646	Amblyopia
OMIM:606996	NPHP4	261734	HP:0000090	Nephronophthisis
OMIM:606996	NPHP4	261734	HP:0001903	Anemia
OMIM:606996	NPHP4	261734	HP:0000510	Rod-cone dystrophy
OMIM:606996	NPHP4	261734	HP:0001141	Severe visual impairment
OMIM:606996	NPHP4	261734	HP:0000007	Autosomal recessive inheritance
OMIM:606996	NPHP4	261734	HP:0003774	Stage 5 chronic kidney disease
OMIM:606996	NPHP4	261734	HP:0001583	Rotary nystagmus
OMIM:606996	NPHP4	261734	HP:0000646	Amblyopia
OMIM:606996	SDCCAG8	10806	HP:0000090	Nephronophthisis
OMIM:606996	SDCCAG8	10806	HP:0001903	Anemia
OMIM:606996	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:606996	SDCCAG8	10806	HP:0001141	Severe visual impairment
OMIM:606996	SDCCAG8	10806	HP:0000007	Autosomal recessive inheritance
OMIM:606996	SDCCAG8	10806	HP:0003774	Stage 5 chronic kidney disease
OMIM:606996	SDCCAG8	10806	HP:0001583	Rotary nystagmus
OMIM:606996	SDCCAG8	10806	HP:0000646	Amblyopia
OMIM:606996	NPHP3	27031	HP:0000090	Nephronophthisis
OMIM:606996	NPHP3	27031	HP:0001903	Anemia
OMIM:606996	NPHP3	27031	HP:0000510	Rod-cone dystrophy
OMIM:606996	NPHP3	27031	HP:0001141	Severe visual impairment
OMIM:606996	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:606996	NPHP3	27031	HP:0003774	Stage 5 chronic kidney disease
OMIM:606996	NPHP3	27031	HP:0001583	Rotary nystagmus
OMIM:606996	NPHP3	27031	HP:0000646	Amblyopia
OMIM:606996	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:606996	CEP290	80184	HP:0001903	Anemia
OMIM:606996	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:606996	CEP290	80184	HP:0001141	Severe visual impairment
OMIM:606996	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:606996	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
OMIM:606996	CEP290	80184	HP:0001583	Rotary nystagmus
OMIM:606996	CEP290	80184	HP:0000646	Amblyopia
OMIM:606996	IQCB1	9657	HP:0000090	Nephronophthisis
OMIM:606996	IQCB1	9657	HP:0001903	Anemia
OMIM:606996	IQCB1	9657	HP:0000510	Rod-cone dystrophy
OMIM:606996	IQCB1	9657	HP:0001141	Severe visual impairment
OMIM:606996	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:606996	IQCB1	9657	HP:0003774	Stage 5 chronic kidney disease
OMIM:606996	IQCB1	9657	HP:0001583	Rotary nystagmus
OMIM:606996	IQCB1	9657	HP:0000646	Amblyopia
OMIM:606996	INVS	27130	HP:0000090	Nephronophthisis
OMIM:606996	INVS	27130	HP:0001903	Anemia
OMIM:606996	INVS	27130	HP:0000510	Rod-cone dystrophy
OMIM:606996	INVS	27130	HP:0001141	Severe visual impairment
OMIM:606996	INVS	27130	HP:0000007	Autosomal recessive inheritance
OMIM:606996	INVS	27130	HP:0003774	Stage 5 chronic kidney disease
OMIM:606996	INVS	27130	HP:0001583	Rotary nystagmus
OMIM:606996	INVS	27130	HP:0000646	Amblyopia
OMIM:613982	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:613982	PPIB	5479	HP:0002659	Increased susceptibility to fractures
OMIM:613982	PPIB	5479	HP:0002812	Coxa vara
OMIM:613982	SERPINH1	871	HP:0000007	Autosomal recessive inheritance
OMIM:613982	SERPINH1	871	HP:0002659	Increased susceptibility to fractures
OMIM:613982	SERPINH1	871	HP:0002812	Coxa vara
OMIM:613982	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:613982	FKBP10	60681	HP:0002659	Increased susceptibility to fractures
OMIM:613982	FKBP10	60681	HP:0002812	Coxa vara
OMIM:613982	BMP1	649	HP:0000007	Autosomal recessive inheritance
OMIM:613982	BMP1	649	HP:0002659	Increased susceptibility to fractures
OMIM:613982	BMP1	649	HP:0002812	Coxa vara
OMIM:613982	TMEM38B	55151	HP:0000007	Autosomal recessive inheritance
OMIM:613982	TMEM38B	55151	HP:0002659	Increased susceptibility to fractures
OMIM:613982	TMEM38B	55151	HP:0002812	Coxa vara
OMIM:613982	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:613982	WNT1	7471	HP:0002659	Increased susceptibility to fractures
OMIM:613982	WNT1	7471	HP:0002812	Coxa vara
OMIM:613982	P3H1	64175	HP:0000007	Autosomal recessive inheritance
OMIM:613982	P3H1	64175	HP:0002659	Increased susceptibility to fractures
OMIM:613982	P3H1	64175	HP:0002812	Coxa vara
OMIM:613982	CREB3L1	90993	HP:0000007	Autosomal recessive inheritance
OMIM:613982	CREB3L1	90993	HP:0002659	Increased susceptibility to fractures
OMIM:613982	CREB3L1	90993	HP:0002812	Coxa vara
OMIM:613982	SPARC	6678	HP:0000007	Autosomal recessive inheritance
OMIM:613982	SPARC	6678	HP:0002659	Increased susceptibility to fractures
OMIM:613982	SPARC	6678	HP:0002812	Coxa vara
OMIM:613982	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:613982	SERPINF1	5176	HP:0002659	Increased susceptibility to fractures
OMIM:613982	SERPINF1	5176	HP:0002812	Coxa vara
OMIM:613982	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:613982	CRTAP	10491	HP:0002659	Increased susceptibility to fractures
OMIM:613982	CRTAP	10491	HP:0002812	Coxa vara
OMIM:613982	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:613982	COL1A1	1277	HP:0002659	Increased susceptibility to fractures
OMIM:613982	COL1A1	1277	HP:0002812	Coxa vara
OMIM:613982	SP7	121340	HP:0000007	Autosomal recessive inheritance
OMIM:613982	SP7	121340	HP:0002659	Increased susceptibility to fractures
OMIM:613982	SP7	121340	HP:0002812	Coxa vara
OMIM:613982	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:613982	COL1A2	1278	HP:0002659	Increased susceptibility to fractures
OMIM:613982	COL1A2	1278	HP:0002812	Coxa vara
OMIM:606579	NLRP1	22861	HP:0010982	Polygenic inheritance
OMIM:606579	NLRP1	22861	HP:0001045	Vitiligo
OMIM:606579	FOXD3	27022	HP:0010982	Polygenic inheritance
OMIM:606579	FOXD3	27022	HP:0001045	Vitiligo
OMIM:615290	BICD2	23299	HP:0001270	Motor delay
OMIM:615290	BICD2	23299	HP:0001347	Hyperreflexia
OMIM:615290	BICD2	23299	HP:0001771	Achilles tendon contracture
OMIM:615290	BICD2	23299	HP:0006380	Knee flexion contracture
OMIM:615290	BICD2	23299	HP:0003691	Scapular winging
OMIM:615290	BICD2	23299	HP:0000006	Autosomal dominant inheritance
OMIM:615290	BICD2	23299	HP:0001385	Hip dysplasia
OMIM:615290	BICD2	23299	HP:0003391	Gowers sign
OMIM:615290	BICD2	23299	HP:0001762	Talipes equinovarus
OMIM:615290	BICD2	23299	HP:0001265	Hyporeflexia
OMIM:615290	BICD2	23299	HP:0003307	Hyperlordosis
OMIM:615290	BICD2	23299	HP:0001284	Areflexia
OMIM:615290	BICD2	23299	HP:0003273	Hip contracture
OMIM:615290	BICD2	23299	HP:0001257	Spasticity
OMIM:615290	BICD2	23299	HP:0002515	Waddling gait
OMIM:615290	BICD2	23299	HP:0003828	Variable expressivity
OMIM:615290	BICD2	23299	HP:0007269	Spinal muscular atrophy
OMIM:615290	BICD2	23299	HP:0002380	Fasciculations
OMIM:162800	ELANE	1991	HP:0001874	Abnormality of neutrophils
OMIM:162800	ELANE	1991	HP:0000704	Periodontitis
OMIM:162800	ELANE	1991	HP:0200042	Skin ulcer
OMIM:162800	ELANE	1991	HP:0001873	Thrombocytopenia
OMIM:162800	ELANE	1991	HP:0001945	Fever
OMIM:162800	ELANE	1991	HP:0001879	Abnormality of eosinophils
OMIM:162800	ELANE	1991	HP:0002716	Lymphadenopathy
OMIM:162800	ELANE	1991	HP:0001875	Neutropenia
OMIM:162800	ELANE	1991	HP:0004370	Abnormality of temperature regulation
OMIM:162800	ELANE	1991	HP:0000006	Autosomal dominant inheritance
OMIM:162800	ELANE	1991	HP:0100806	Sepsis
OMIM:162800	ELANE	1991	HP:0002027	Abdominal pain
OMIM:162800	ELANE	1991	HP:0000670	Carious teeth
OMIM:162800	ELANE	1991	HP:0001903	Anemia
OMIM:162800	ELANE	1991	HP:0002205	Recurrent respiratory infections
OMIM:162800	ELANE	1991	HP:0000153	Abnormality of the mouth
OMIM:612199	CTC1	80169	HP:0001873	Thrombocytopenia
OMIM:612199	CTC1	80169	HP:0001251	Ataxia
OMIM:612199	CTC1	80169	HP:0001268	Mental deterioration
OMIM:612199	CTC1	80169	HP:0003593	Infantile onset
OMIM:612199	CTC1	80169	HP:0004322	Short stature
OMIM:612199	CTC1	80169	HP:0001257	Spasticity
OMIM:612199	CTC1	80169	HP:0000618	Blindness
OMIM:612199	CTC1	80169	HP:0001260	Dysarthria
OMIM:612199	CTC1	80169	HP:0001332	Dystonia
OMIM:612199	CTC1	80169	HP:0002352	Leukoencephalopathy
OMIM:612199	CTC1	80169	HP:0000648	Optic atrophy
OMIM:612199	CTC1	80169	HP:0004979	Metaphyseal sclerosis
OMIM:612199	CTC1	80169	HP:0100864	Short femoral neck
OMIM:612199	CTC1	80169	HP:0005528	Bone marrow hypocellularity
OMIM:612199	CTC1	80169	HP:0007256	Abnormal pyramidal signs
OMIM:612199	CTC1	80169	HP:0003676	Progressive
OMIM:612199	CTC1	80169	HP:0000963	Thin skin
OMIM:612199	CTC1	80169	HP:0002514	Cerebral calcification
OMIM:612199	CTC1	80169	HP:0000938	Osteopenia
OMIM:612199	CTC1	80169	HP:0003812	Phenotypic variability
OMIM:612199	CTC1	80169	HP:0001511	Intrauterine growth retardation
OMIM:612199	CTC1	80169	HP:0001903	Anemia
OMIM:612199	CTC1	80169	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:612199	CTC1	80169	HP:0002857	Genu valgum
OMIM:612199	CTC1	80169	HP:0002415	Leukodystrophy
OMIM:612199	CTC1	80169	HP:0008897	Postnatal growth retardation
OMIM:612199	CTC1	80169	HP:0002650	Scoliosis
OMIM:612199	CTC1	80169	HP:0002756	Pathologic fracture
OMIM:612199	CTC1	80169	HP:0002164	Nail dysplasia
OMIM:612199	CTC1	80169	HP:0008070	Sparse hair
OMIM:612199	CTC1	80169	HP:0000939	Osteoporosis
OMIM:612199	CTC1	80169	HP:0001250	Seizures
OMIM:612199	CTC1	80169	HP:0001337	Tremor
OMIM:612199	CTC1	80169	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:612199	CTC1	80169	HP:0000007	Autosomal recessive inheritance
OMIM:300301	IKBKG	8517	HP:0001004	Lymphedema
OMIM:300301	IKBKG	8517	HP:0002719	Recurrent infections
OMIM:300301	IKBKG	8517	HP:0000968	Ectodermal dysplasia
OMIM:300301	IKBKG	8517	HP:0002721	Immunodeficiency
OMIM:607499	BDNF	627	HP:0001426	Multifactorial inheritance
OMIM:614931	KRT85	3891	HP:0000007	Autosomal recessive inheritance
OMIM:614931	KRT85	3891	HP:0000968	Ectodermal dysplasia
OMIM:614931	KRT85	3891	HP:0008404	Nail dystrophy
OMIM:614931	HOXC13	3229	HP:0000007	Autosomal recessive inheritance
OMIM:614931	HOXC13	3229	HP:0000968	Ectodermal dysplasia
OMIM:614931	HOXC13	3229	HP:0008404	Nail dystrophy
OMIM:614931	KRT74	121391	HP:0000007	Autosomal recessive inheritance
OMIM:614931	KRT74	121391	HP:0000968	Ectodermal dysplasia
OMIM:614931	KRT74	121391	HP:0008404	Nail dystrophy
OMIM:614370	CSF2RA	1438	HP:0002094	Dyspnea
OMIM:614370	CSF2RA	1438	HP:0000007	Autosomal recessive inheritance
OMIM:614370	CSF2RB	1439	HP:0002094	Dyspnea
OMIM:614370	CSF2RB	1439	HP:0000007	Autosomal recessive inheritance
OMIM:615973	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	AIPL1	23746	HP:0000639	Nystagmus
OMIM:615973	AIPL1	23746	HP:0000551	Abnormality of color vision
OMIM:615973	AIPL1	23746	HP:0001133	Constriction of peripheral visual field
OMIM:615973	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:615973	AIPL1	23746	HP:0000505	Visual impairment
OMIM:615973	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	PITPNM3	83394	HP:0000639	Nystagmus
OMIM:615973	PITPNM3	83394	HP:0000551	Abnormality of color vision
OMIM:615973	PITPNM3	83394	HP:0001133	Constriction of peripheral visual field
OMIM:615973	PITPNM3	83394	HP:0007663	Reduced visual acuity
OMIM:615973	PITPNM3	83394	HP:0000505	Visual impairment
OMIM:615973	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	OPN1LW	5956	HP:0000639	Nystagmus
OMIM:615973	OPN1LW	5956	HP:0000551	Abnormality of color vision
OMIM:615973	OPN1LW	5956	HP:0001133	Constriction of peripheral visual field
OMIM:615973	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:615973	OPN1LW	5956	HP:0000505	Visual impairment
OMIM:615973	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	UNC119	9094	HP:0000639	Nystagmus
OMIM:615973	UNC119	9094	HP:0000551	Abnormality of color vision
OMIM:615973	UNC119	9094	HP:0001133	Constriction of peripheral visual field
OMIM:615973	UNC119	9094	HP:0007663	Reduced visual acuity
OMIM:615973	UNC119	9094	HP:0000505	Visual impairment
OMIM:615973	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	RPGRIP1	57096	HP:0000639	Nystagmus
OMIM:615973	RPGRIP1	57096	HP:0000551	Abnormality of color vision
OMIM:615973	RPGRIP1	57096	HP:0001133	Constriction of peripheral visual field
OMIM:615973	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:615973	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:615973	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	PRPH2	5961	HP:0000639	Nystagmus
OMIM:615973	PRPH2	5961	HP:0000551	Abnormality of color vision
OMIM:615973	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:615973	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:615973	PRPH2	5961	HP:0000505	Visual impairment
OMIM:615973	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	CACNA1F	778	HP:0000639	Nystagmus
OMIM:615973	CACNA1F	778	HP:0000551	Abnormality of color vision
OMIM:615973	CACNA1F	778	HP:0001133	Constriction of peripheral visual field
OMIM:615973	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:615973	CACNA1F	778	HP:0000505	Visual impairment
OMIM:615973	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	PROM1	8842	HP:0000639	Nystagmus
OMIM:615973	PROM1	8842	HP:0000551	Abnormality of color vision
OMIM:615973	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:615973	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:615973	PROM1	8842	HP:0000505	Visual impairment
OMIM:615973	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	DRAM2	128338	HP:0000639	Nystagmus
OMIM:615973	DRAM2	128338	HP:0000551	Abnormality of color vision
OMIM:615973	DRAM2	128338	HP:0001133	Constriction of peripheral visual field
OMIM:615973	DRAM2	128338	HP:0007663	Reduced visual acuity
OMIM:615973	DRAM2	128338	HP:0000505	Visual impairment
OMIM:615973	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	CACNA2D4	93589	HP:0000639	Nystagmus
OMIM:615973	CACNA2D4	93589	HP:0000551	Abnormality of color vision
OMIM:615973	CACNA2D4	93589	HP:0001133	Constriction of peripheral visual field
OMIM:615973	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:615973	CACNA2D4	93589	HP:0000505	Visual impairment
OMIM:615973	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	RAB28	9364	HP:0000639	Nystagmus
OMIM:615973	RAB28	9364	HP:0000551	Abnormality of color vision
OMIM:615973	RAB28	9364	HP:0001133	Constriction of peripheral visual field
OMIM:615973	RAB28	9364	HP:0007663	Reduced visual acuity
OMIM:615973	RAB28	9364	HP:0000505	Visual impairment
OMIM:615973	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	RIMS1	22999	HP:0000639	Nystagmus
OMIM:615973	RIMS1	22999	HP:0000551	Abnormality of color vision
OMIM:615973	RIMS1	22999	HP:0001133	Constriction of peripheral visual field
OMIM:615973	RIMS1	22999	HP:0007663	Reduced visual acuity
OMIM:615973	RIMS1	22999	HP:0000505	Visual impairment
OMIM:615973	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	RPGR	6103	HP:0000639	Nystagmus
OMIM:615973	RPGR	6103	HP:0000551	Abnormality of color vision
OMIM:615973	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:615973	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:615973	RPGR	6103	HP:0000505	Visual impairment
OMIM:615973	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	ABCA4	24	HP:0000639	Nystagmus
OMIM:615973	ABCA4	24	HP:0000551	Abnormality of color vision
OMIM:615973	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:615973	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:615973	ABCA4	24	HP:0000505	Visual impairment
OMIM:615973	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	SEMA4A	64218	HP:0000639	Nystagmus
OMIM:615973	SEMA4A	64218	HP:0000551	Abnormality of color vision
OMIM:615973	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:615973	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:615973	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:615973	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	C8ORF37	157657	HP:0000639	Nystagmus
OMIM:615973	C8ORF37	157657	HP:0000551	Abnormality of color vision
OMIM:615973	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:615973	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:615973	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:615973	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	OPN1MW	2652	HP:0000639	Nystagmus
OMIM:615973	OPN1MW	2652	HP:0000551	Abnormality of color vision
OMIM:615973	OPN1MW	2652	HP:0001133	Constriction of peripheral visual field
OMIM:615973	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:615973	OPN1MW	2652	HP:0000505	Visual impairment
OMIM:615973	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	GUCA1A	2978	HP:0000639	Nystagmus
OMIM:615973	GUCA1A	2978	HP:0000551	Abnormality of color vision
OMIM:615973	GUCA1A	2978	HP:0001133	Constriction of peripheral visual field
OMIM:615973	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:615973	GUCA1A	2978	HP:0000505	Visual impairment
OMIM:615973	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	RAX2	84839	HP:0000639	Nystagmus
OMIM:615973	RAX2	84839	HP:0000551	Abnormality of color vision
OMIM:615973	RAX2	84839	HP:0001133	Constriction of peripheral visual field
OMIM:615973	RAX2	84839	HP:0007663	Reduced visual acuity
OMIM:615973	RAX2	84839	HP:0000505	Visual impairment
OMIM:615973	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	CNGA3	1261	HP:0000639	Nystagmus
OMIM:615973	CNGA3	1261	HP:0000551	Abnormality of color vision
OMIM:615973	CNGA3	1261	HP:0001133	Constriction of peripheral visual field
OMIM:615973	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:615973	CNGA3	1261	HP:0000505	Visual impairment
OMIM:615973	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	ADAM9	8754	HP:0000639	Nystagmus
OMIM:615973	ADAM9	8754	HP:0000551	Abnormality of color vision
OMIM:615973	ADAM9	8754	HP:0001133	Constriction of peripheral visual field
OMIM:615973	ADAM9	8754	HP:0007663	Reduced visual acuity
OMIM:615973	ADAM9	8754	HP:0000505	Visual impairment
OMIM:615973	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	CDHR1	92211	HP:0000639	Nystagmus
OMIM:615973	CDHR1	92211	HP:0000551	Abnormality of color vision
OMIM:615973	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:615973	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:615973	CDHR1	92211	HP:0000505	Visual impairment
OMIM:615973	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	TTLL5	23093	HP:0000639	Nystagmus
OMIM:615973	TTLL5	23093	HP:0000551	Abnormality of color vision
OMIM:615973	TTLL5	23093	HP:0001133	Constriction of peripheral visual field
OMIM:615973	TTLL5	23093	HP:0007663	Reduced visual acuity
OMIM:615973	TTLL5	23093	HP:0000505	Visual impairment
OMIM:615973	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:615973	GUCY2D	3000	HP:0000551	Abnormality of color vision
OMIM:615973	GUCY2D	3000	HP:0001133	Constriction of peripheral visual field
OMIM:615973	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:615973	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:615973	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	POC1B	282809	HP:0000639	Nystagmus
OMIM:615973	POC1B	282809	HP:0000551	Abnormality of color vision
OMIM:615973	POC1B	282809	HP:0001133	Constriction of peripheral visual field
OMIM:615973	POC1B	282809	HP:0007663	Reduced visual acuity
OMIM:615973	POC1B	282809	HP:0000505	Visual impairment
OMIM:615973	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:615973	CRX	1406	HP:0000639	Nystagmus
OMIM:615973	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:615973	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:615973	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:615973	CRX	1406	HP:0000505	Visual impairment
OMIM:261000	GIF	2694	HP:0001889	Megaloblastic anemia
OMIM:261000	GIF	2694	HP:0002024	Malabsorption
OMIM:261000	GIF	2694	HP:0003401	Paresthesia
OMIM:261000	GIF	2694	HP:0003621	Juvenile onset
OMIM:261000	GIF	2694	HP:0003474	Sensory impairment
OMIM:261000	GIF	2694	HP:0002715	Abnormality of the immune system
OMIM:261000	GIF	2694	HP:0000007	Autosomal recessive inheritance
OMIM:208910	ATM	472	HP:0000777	Abnormality of the thymus
OMIM:208910	ATM	472	HP:0003220	Abnormality of chromosome stability
OMIM:208910	ATM	472	HP:0001952	Abnormal glucose tolerance
OMIM:208910	ATM	472	HP:0009473	Joint contracture of the hand
OMIM:208910	ATM	472	HP:0001251	Ataxia
OMIM:208910	ATM	472	HP:0001909	Leukemia
OMIM:208910	ATM	472	HP:0000007	Autosomal recessive inheritance
OMIM:208910	ATM	472	HP:0001522	Death in infancy
OMIM:208910	ATM	472	HP:0007440	Generalized hyperpigmentation
OMIM:208910	ATM	472	HP:0000657	Oculomotor apraxia
OMIM:208910	ATM	472	HP:0001332	Dystonia
OMIM:603546	KIF22	3835	HP:0000256	Macrocephaly
OMIM:603546	KIF22	3835	HP:0001374	Congenital hip dislocation
OMIM:603546	KIF22	3835	HP:0003025	Metaphyseal irregularity
OMIM:603546	KIF22	3835	HP:0000272	Malar flattening
OMIM:603546	KIF22	3835	HP:0002652	Skeletal dysplasia
OMIM:603546	KIF22	3835	HP:0011800	Hypoplasia of midface
OMIM:603546	KIF22	3835	HP:0002007	Frontal bossing
OMIM:603546	KIF22	3835	HP:0000006	Autosomal dominant inheritance
OMIM:603546	KIF22	3835	HP:0002857	Genu valgum
OMIM:603546	KIF22	3835	HP:0003019	Abnormality of the wrist
OMIM:603546	KIF22	3835	HP:0002779	Tracheomalacia
OMIM:603546	KIF22	3835	HP:0004322	Short stature
OMIM:603546	KIF22	3835	HP:0009836	Broad distal phalanx of finger
OMIM:603546	KIF22	3835	HP:0005107	Abnormality of the sacrum
OMIM:603546	KIF22	3835	HP:0003015	Flared metaphysis
OMIM:603546	KIF22	3835	HP:0000926	Platyspondyly
OMIM:603546	KIF22	3835	HP:0002970	Genu varum
OMIM:603546	KIF22	3835	HP:0002650	Scoliosis
OMIM:603546	KIF22	3835	HP:0002758	Osteoarthritis
OMIM:603546	KIF22	3835	HP:0002808	Kyphosis
OMIM:603546	KIF22	3835	HP:0001231	Abnormality of the fingernails
OMIM:603546	KIF22	3835	HP:0005092	Streaky metaphyseal sclerosis
OMIM:603546	KIF22	3835	HP:0010301	Spinal dysraphism
OMIM:603546	KIF22	3835	HP:0001763	Pes planus
OMIM:603546	KIF22	3835	HP:0003083	Dislocated radial head
OMIM:603546	KIF22	3835	HP:0001163	Abnormality of the metacarpal bones
OMIM:603546	KIF22	3835	HP:0001498	Carpal bone hypoplasia
OMIM:603546	KIF22	3835	HP:0003196	Short nose
OMIM:603546	KIF22	3835	HP:0100625	Enlarged thorax
OMIM:603546	KIF22	3835	HP:0001388	Joint laxity
OMIM:603546	KIF22	3835	HP:0002983	Micromelia
OMIM:603546	KIF22	3835	HP:0005280	Depressed nasal bridge
OMIM:603546	KIF22	3835	HP:0001600	Abnormality of the larynx
OMIM:603546	KIF22	3835	HP:0006443	Patellar aplasia
OMIM:603546	KIF22	3835	HP:0000368	Low-set, posteriorly rotated ears
OMIM:603546	KIF22	3835	HP:0003272	Abnormality of the hip bone
OMIM:603546	KIF22	3835	HP:0000977	Soft skin
OMIM:603546	KIF22	3835	HP:0004348	Abnormality of bone mineral density
OMIM:603546	KIF22	3835	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:603546	KIF22	3835	HP:0100543	Cognitive impairment
OMIM:603546	KIF22	3835	HP:0000463	Anteverted nares
OMIM:603546	KIF22	3835	HP:0003301	Irregular vertebral endplates
OMIM:603546	KIF22	3835	HP:0001252	Muscular hypotonia
OMIM:603546	KIF22	3835	HP:0000470	Short neck
OMIM:615441	CALM1	801	HP:0000007	Autosomal recessive inheritance
OMIM:615441	CALM1	801	HP:0003701	Proximal muscle weakness
OMIM:615441	CALM1	801	HP:0004756	Ventricular tachycardia
OMIM:615441	CALM2	805	HP:0000007	Autosomal recessive inheritance
OMIM:615441	CALM2	805	HP:0003701	Proximal muscle weakness
OMIM:615441	CALM2	805	HP:0004756	Ventricular tachycardia
OMIM:615441	RYR2	6262	HP:0000007	Autosomal recessive inheritance
OMIM:615441	RYR2	6262	HP:0003701	Proximal muscle weakness
OMIM:615441	RYR2	6262	HP:0004756	Ventricular tachycardia
OMIM:615441	CALM3	808	HP:0000007	Autosomal recessive inheritance
OMIM:615441	CALM3	808	HP:0003701	Proximal muscle weakness
OMIM:615441	CALM3	808	HP:0004756	Ventricular tachycardia
OMIM:615441	TRDN	10345	HP:0000007	Autosomal recessive inheritance
OMIM:615441	TRDN	10345	HP:0003701	Proximal muscle weakness
OMIM:615441	TRDN	10345	HP:0004756	Ventricular tachycardia
OMIM:615441	CASQ2	845	HP:0000007	Autosomal recessive inheritance
OMIM:615441	CASQ2	845	HP:0003701	Proximal muscle weakness
OMIM:615441	CASQ2	845	HP:0004756	Ventricular tachycardia
OMIM:400044	SRY	6736	HP:0000055	Abnormality of female external genitalia
OMIM:400044	SRY	6736	HP:0000037	Male pseudohermaphroditism
OMIM:400044	SRY	6736	HP:0012245	Sex reversal
OMIM:400044	SRY	6736	HP:0000098	Tall stature
OMIM:400044	SRY	6736	HP:0008187	Absence of secondary sex characteristics
OMIM:400044	SRY	6736	HP:0000133	Gonadal dysgenesis
OMIM:400044	SRY	6736	HP:0000786	Primary amenorrhea
OMIM:400044	DMRT1	1761	HP:0000055	Abnormality of female external genitalia
OMIM:400044	DMRT1	1761	HP:0000037	Male pseudohermaphroditism
OMIM:400044	DMRT1	1761	HP:0012245	Sex reversal
OMIM:400044	DMRT1	1761	HP:0000098	Tall stature
OMIM:400044	DMRT1	1761	HP:0008187	Absence of secondary sex characteristics
OMIM:400044	DMRT1	1761	HP:0000133	Gonadal dysgenesis
OMIM:400044	DMRT1	1761	HP:0000786	Primary amenorrhea
OMIM:400044	NR5A1	2516	HP:0000055	Abnormality of female external genitalia
OMIM:400044	NR5A1	2516	HP:0000037	Male pseudohermaphroditism
OMIM:400044	NR5A1	2516	HP:0012245	Sex reversal
OMIM:400044	NR5A1	2516	HP:0000098	Tall stature
OMIM:400044	NR5A1	2516	HP:0008187	Absence of secondary sex characteristics
OMIM:400044	NR5A1	2516	HP:0000133	Gonadal dysgenesis
OMIM:400044	NR5A1	2516	HP:0000786	Primary amenorrhea
OMIM:400044	SOX9	6662	HP:0000055	Abnormality of female external genitalia
OMIM:400044	SOX9	6662	HP:0000037	Male pseudohermaphroditism
OMIM:400044	SOX9	6662	HP:0012245	Sex reversal
OMIM:400044	SOX9	6662	HP:0000098	Tall stature
OMIM:400044	SOX9	6662	HP:0008187	Absence of secondary sex characteristics
OMIM:400044	SOX9	6662	HP:0000133	Gonadal dysgenesis
OMIM:400044	SOX9	6662	HP:0000786	Primary amenorrhea
OMIM:400044	MAP3K1	4214	HP:0000055	Abnormality of female external genitalia
OMIM:400044	MAP3K1	4214	HP:0000037	Male pseudohermaphroditism
OMIM:400044	MAP3K1	4214	HP:0012245	Sex reversal
OMIM:400044	MAP3K1	4214	HP:0000098	Tall stature
OMIM:400044	MAP3K1	4214	HP:0008187	Absence of secondary sex characteristics
OMIM:400044	MAP3K1	4214	HP:0000133	Gonadal dysgenesis
OMIM:400044	MAP3K1	4214	HP:0000786	Primary amenorrhea
OMIM:400044	CBX2	84733	HP:0000055	Abnormality of female external genitalia
OMIM:400044	CBX2	84733	HP:0000037	Male pseudohermaphroditism
OMIM:400044	CBX2	84733	HP:0012245	Sex reversal
OMIM:400044	CBX2	84733	HP:0000098	Tall stature
OMIM:400044	CBX2	84733	HP:0008187	Absence of secondary sex characteristics
OMIM:400044	CBX2	84733	HP:0000133	Gonadal dysgenesis
OMIM:400044	CBX2	84733	HP:0000786	Primary amenorrhea
OMIM:400044	DHH	50846	HP:0000055	Abnormality of female external genitalia
OMIM:400044	DHH	50846	HP:0000037	Male pseudohermaphroditism
OMIM:400044	DHH	50846	HP:0012245	Sex reversal
OMIM:400044	DHH	50846	HP:0000098	Tall stature
OMIM:400044	DHH	50846	HP:0008187	Absence of secondary sex characteristics
OMIM:400044	DHH	50846	HP:0000133	Gonadal dysgenesis
OMIM:400044	DHH	50846	HP:0000786	Primary amenorrhea
OMIM:400044	NR0B1	190	HP:0000055	Abnormality of female external genitalia
OMIM:400044	NR0B1	190	HP:0000037	Male pseudohermaphroditism
OMIM:400044	NR0B1	190	HP:0012245	Sex reversal
OMIM:400044	NR0B1	190	HP:0000098	Tall stature
OMIM:400044	NR0B1	190	HP:0008187	Absence of secondary sex characteristics
OMIM:400044	NR0B1	190	HP:0000133	Gonadal dysgenesis
OMIM:400044	NR0B1	190	HP:0000786	Primary amenorrhea
ORPHANET:280785	KIT	3815	HP:0001025	Urticaria
ORPHANET:280785	KIT	3815	HP:0001645	Sudden cardiac death
ORPHANET:280785	KIT	3815	HP:0000989	Pruritus
ORPHANET:280785	KIT	3815	HP:0001000	Abnormality of skin pigmentation
OMIM:604116	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	AIPL1	23746	HP:0000572	Visual loss
OMIM:604116	AIPL1	23746	HP:0000551	Abnormality of color vision
OMIM:604116	AIPL1	23746	HP:0000603	Central scotoma
OMIM:604116	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	PITPNM3	83394	HP:0000572	Visual loss
OMIM:604116	PITPNM3	83394	HP:0000551	Abnormality of color vision
OMIM:604116	PITPNM3	83394	HP:0000603	Central scotoma
OMIM:604116	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	OPN1LW	5956	HP:0000572	Visual loss
OMIM:604116	OPN1LW	5956	HP:0000551	Abnormality of color vision
OMIM:604116	OPN1LW	5956	HP:0000603	Central scotoma
OMIM:604116	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	UNC119	9094	HP:0000572	Visual loss
OMIM:604116	UNC119	9094	HP:0000551	Abnormality of color vision
OMIM:604116	UNC119	9094	HP:0000603	Central scotoma
OMIM:604116	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	RPGRIP1	57096	HP:0000572	Visual loss
OMIM:604116	RPGRIP1	57096	HP:0000551	Abnormality of color vision
OMIM:604116	RPGRIP1	57096	HP:0000603	Central scotoma
OMIM:604116	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	PRPH2	5961	HP:0000572	Visual loss
OMIM:604116	PRPH2	5961	HP:0000551	Abnormality of color vision
OMIM:604116	PRPH2	5961	HP:0000603	Central scotoma
OMIM:604116	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	CACNA1F	778	HP:0000572	Visual loss
OMIM:604116	CACNA1F	778	HP:0000551	Abnormality of color vision
OMIM:604116	CACNA1F	778	HP:0000603	Central scotoma
OMIM:604116	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	PROM1	8842	HP:0000572	Visual loss
OMIM:604116	PROM1	8842	HP:0000551	Abnormality of color vision
OMIM:604116	PROM1	8842	HP:0000603	Central scotoma
OMIM:604116	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	DRAM2	128338	HP:0000572	Visual loss
OMIM:604116	DRAM2	128338	HP:0000551	Abnormality of color vision
OMIM:604116	DRAM2	128338	HP:0000603	Central scotoma
OMIM:604116	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	CACNA2D4	93589	HP:0000572	Visual loss
OMIM:604116	CACNA2D4	93589	HP:0000551	Abnormality of color vision
OMIM:604116	CACNA2D4	93589	HP:0000603	Central scotoma
OMIM:604116	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	RAB28	9364	HP:0000572	Visual loss
OMIM:604116	RAB28	9364	HP:0000551	Abnormality of color vision
OMIM:604116	RAB28	9364	HP:0000603	Central scotoma
OMIM:604116	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	RIMS1	22999	HP:0000572	Visual loss
OMIM:604116	RIMS1	22999	HP:0000551	Abnormality of color vision
OMIM:604116	RIMS1	22999	HP:0000603	Central scotoma
OMIM:604116	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	RPGR	6103	HP:0000572	Visual loss
OMIM:604116	RPGR	6103	HP:0000551	Abnormality of color vision
OMIM:604116	RPGR	6103	HP:0000603	Central scotoma
OMIM:604116	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	ABCA4	24	HP:0000572	Visual loss
OMIM:604116	ABCA4	24	HP:0000551	Abnormality of color vision
OMIM:604116	ABCA4	24	HP:0000603	Central scotoma
OMIM:604116	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	SEMA4A	64218	HP:0000572	Visual loss
OMIM:604116	SEMA4A	64218	HP:0000551	Abnormality of color vision
OMIM:604116	SEMA4A	64218	HP:0000603	Central scotoma
OMIM:604116	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	C8ORF37	157657	HP:0000572	Visual loss
OMIM:604116	C8ORF37	157657	HP:0000551	Abnormality of color vision
OMIM:604116	C8ORF37	157657	HP:0000603	Central scotoma
OMIM:604116	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	OPN1MW	2652	HP:0000572	Visual loss
OMIM:604116	OPN1MW	2652	HP:0000551	Abnormality of color vision
OMIM:604116	OPN1MW	2652	HP:0000603	Central scotoma
OMIM:604116	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	GUCA1A	2978	HP:0000572	Visual loss
OMIM:604116	GUCA1A	2978	HP:0000551	Abnormality of color vision
OMIM:604116	GUCA1A	2978	HP:0000603	Central scotoma
OMIM:604116	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	RAX2	84839	HP:0000572	Visual loss
OMIM:604116	RAX2	84839	HP:0000551	Abnormality of color vision
OMIM:604116	RAX2	84839	HP:0000603	Central scotoma
OMIM:604116	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	CNGA3	1261	HP:0000572	Visual loss
OMIM:604116	CNGA3	1261	HP:0000551	Abnormality of color vision
OMIM:604116	CNGA3	1261	HP:0000603	Central scotoma
OMIM:604116	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	ADAM9	8754	HP:0000572	Visual loss
OMIM:604116	ADAM9	8754	HP:0000551	Abnormality of color vision
OMIM:604116	ADAM9	8754	HP:0000603	Central scotoma
OMIM:604116	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	CDHR1	92211	HP:0000572	Visual loss
OMIM:604116	CDHR1	92211	HP:0000551	Abnormality of color vision
OMIM:604116	CDHR1	92211	HP:0000603	Central scotoma
OMIM:604116	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	TTLL5	23093	HP:0000572	Visual loss
OMIM:604116	TTLL5	23093	HP:0000551	Abnormality of color vision
OMIM:604116	TTLL5	23093	HP:0000603	Central scotoma
OMIM:604116	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	GUCY2D	3000	HP:0000572	Visual loss
OMIM:604116	GUCY2D	3000	HP:0000551	Abnormality of color vision
OMIM:604116	GUCY2D	3000	HP:0000603	Central scotoma
OMIM:604116	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	POC1B	282809	HP:0000572	Visual loss
OMIM:604116	POC1B	282809	HP:0000551	Abnormality of color vision
OMIM:604116	POC1B	282809	HP:0000603	Central scotoma
OMIM:604116	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:604116	CRX	1406	HP:0000572	Visual loss
OMIM:604116	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:604116	CRX	1406	HP:0000603	Central scotoma
ORPHANET:2953	CHST14	113189	HP:0100543	Cognitive impairment
ORPHANET:2953	CHST14	113189	HP:0001629	Ventricular septal defect
ORPHANET:2953	CHST14	113189	HP:0001631	Atria septal defect
ORPHANET:2953	CHST14	113189	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2953	CHST14	113189	HP:0001166	Arachnodactyly
ORPHANET:2953	CHST14	113189	HP:0001181	Adducted thumb
ORPHANET:2953	CHST14	113189	HP:0100542	Abnormal localization of kidney
ORPHANET:2953	CHST14	113189	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:2953	CHST14	113189	HP:0001679	Abnormality of the aorta
ORPHANET:2953	CHST14	113189	HP:0001883	Talipes
ORPHANET:2953	CHST14	113189	HP:0002714	Downturned corners of mouth
ORPHANET:2953	DSE	29940	HP:0100543	Cognitive impairment
ORPHANET:2953	DSE	29940	HP:0001629	Ventricular septal defect
ORPHANET:2953	DSE	29940	HP:0001631	Atria septal defect
ORPHANET:2953	DSE	29940	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2953	DSE	29940	HP:0001166	Arachnodactyly
ORPHANET:2953	DSE	29940	HP:0001181	Adducted thumb
ORPHANET:2953	DSE	29940	HP:0100542	Abnormal localization of kidney
ORPHANET:2953	DSE	29940	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:2953	DSE	29940	HP:0001679	Abnormality of the aorta
ORPHANET:2953	DSE	29940	HP:0001883	Talipes
ORPHANET:2953	DSE	29940	HP:0002714	Downturned corners of mouth
ORPHANET:2771	PLOD2	5352	HP:0004322	Short stature
ORPHANET:2771	PLOD2	5352	HP:0004349	Reduced bone mineral density
ORPHANET:2771	PLOD2	5352	HP:0000325	Triangular face
ORPHANET:2771	PLOD2	5352	HP:0002650	Scoliosis
ORPHANET:2771	PLOD2	5352	HP:0001883	Talipes
ORPHANET:2771	PLOD2	5352	HP:0002808	Kyphosis
ORPHANET:2771	PLOD2	5352	HP:0002645	Wormian bones
ORPHANET:2771	PLOD2	5352	HP:0006487	Bowing of the long bones
ORPHANET:2771	PLOD2	5352	HP:0002757	Recurrent fractures
ORPHANET:2771	PLOD2	5352	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:2771	PLOD2	5352	HP:0000926	Platyspondyly
ORPHANET:2771	PLOD2	5352	HP:0002093	Respiratory insufficiency
ORPHANET:2771	PLOD2	5352	HP:0001376	Limitation of joint mobility
ORPHANET:2771	FKBP10	60681	HP:0004322	Short stature
ORPHANET:2771	FKBP10	60681	HP:0004349	Reduced bone mineral density
ORPHANET:2771	FKBP10	60681	HP:0000325	Triangular face
ORPHANET:2771	FKBP10	60681	HP:0002650	Scoliosis
ORPHANET:2771	FKBP10	60681	HP:0001883	Talipes
ORPHANET:2771	FKBP10	60681	HP:0002808	Kyphosis
ORPHANET:2771	FKBP10	60681	HP:0002645	Wormian bones
ORPHANET:2771	FKBP10	60681	HP:0006487	Bowing of the long bones
ORPHANET:2771	FKBP10	60681	HP:0002757	Recurrent fractures
ORPHANET:2771	FKBP10	60681	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:2771	FKBP10	60681	HP:0000926	Platyspondyly
ORPHANET:2771	FKBP10	60681	HP:0002093	Respiratory insufficiency
ORPHANET:2771	FKBP10	60681	HP:0001376	Limitation of joint mobility
OMIM:601547	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:601547	CRYAA	1409	HP:0000519	Congenital cataract
OMIM:601547	CRYAA	1409	HP:0007976	Cerulean cataract
OMIM:601547	CRYAA	1409	HP:0010695	Sutural cataract
OMIM:601547	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:601547	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:601547	CRYBA2	1412	HP:0007976	Cerulean cataract
OMIM:601547	CRYBA2	1412	HP:0010695	Sutural cataract
OMIM:601547	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:601547	CRYBA4	1413	HP:0000519	Congenital cataract
OMIM:601547	CRYBA4	1413	HP:0007976	Cerulean cataract
OMIM:601547	CRYBA4	1413	HP:0010695	Sutural cataract
OMIM:601547	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:601547	CRYBB1	1414	HP:0000519	Congenital cataract
OMIM:601547	CRYBB1	1414	HP:0007976	Cerulean cataract
OMIM:601547	CRYBB1	1414	HP:0010695	Sutural cataract
OMIM:601547	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:601547	AGK	55750	HP:0000519	Congenital cataract
OMIM:601547	AGK	55750	HP:0007976	Cerulean cataract
OMIM:601547	AGK	55750	HP:0010695	Sutural cataract
OMIM:601547	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:601547	CRYBB2	1415	HP:0000519	Congenital cataract
OMIM:601547	CRYBB2	1415	HP:0007976	Cerulean cataract
OMIM:601547	CRYBB2	1415	HP:0010695	Sutural cataract
OMIM:601547	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:601547	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:601547	GCNT2	2651	HP:0007976	Cerulean cataract
OMIM:601547	GCNT2	2651	HP:0010695	Sutural cataract
OMIM:601547	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:601547	CRYGC	1420	HP:0000519	Congenital cataract
OMIM:601547	CRYGC	1420	HP:0007976	Cerulean cataract
OMIM:601547	CRYGC	1420	HP:0010695	Sutural cataract
OMIM:601547	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:601547	CRYGD	1421	HP:0000519	Congenital cataract
OMIM:601547	CRYGD	1421	HP:0007976	Cerulean cataract
OMIM:601547	CRYGD	1421	HP:0010695	Sutural cataract
OMIM:601547	MAF	4094	HP:0000006	Autosomal dominant inheritance
OMIM:601547	MAF	4094	HP:0000519	Congenital cataract
OMIM:601547	MAF	4094	HP:0007976	Cerulean cataract
OMIM:601547	MAF	4094	HP:0010695	Sutural cataract
OMIM:601547	GJA8	2703	HP:0000006	Autosomal dominant inheritance
OMIM:601547	GJA8	2703	HP:0000519	Congenital cataract
OMIM:601547	GJA8	2703	HP:0007976	Cerulean cataract
OMIM:601547	GJA8	2703	HP:0010695	Sutural cataract
OMIM:605589	MED25	81857	HP:0003581	Adult onset
OMIM:605589	MED25	81857	HP:0000007	Autosomal recessive inheritance
OMIM:605589	MED25	81857	HP:0002460	Distal muscle weakness
OMIM:605589	MED25	81857	HP:0002936	Distal sensory impairment
OMIM:605589	MED25	81857	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605589	MED25	81857	HP:0001265	Hyporeflexia
OMIM:605589	MED25	81857	HP:0001284	Areflexia
OMIM:605589	MED25	81857	HP:0003693	Distal amyotrophy
OMIM:609060	GFM1	85476	HP:0001250	Seizures
OMIM:609060	GFM1	85476	HP:0001942	Metabolic acidosis
OMIM:609060	GFM1	85476	HP:0000007	Autosomal recessive inheritance
OMIM:609060	GFM1	85476	HP:0002079	Hypoplasia of the corpus callosum
OMIM:609060	GFM1	85476	HP:0002490	Increased CSF lactate
OMIM:609060	GFM1	85476	HP:0003577	Congenital onset
OMIM:609060	GFM1	85476	HP:0011968	Feeding difficulties
OMIM:609060	GFM1	85476	HP:0001511	Intrauterine growth retardation
OMIM:609060	GFM1	85476	HP:0002240	Hepatomegaly
OMIM:609060	GFM1	85476	HP:0001347	Hyperreflexia
OMIM:609060	GFM1	85476	HP:0001257	Spasticity
OMIM:609060	GFM1	85476	HP:0000252	Microcephaly
OMIM:609060	GFM1	85476	HP:0008936	Muscular hypotonia of the trunk
OMIM:609060	GFM1	85476	HP:0001270	Motor delay
OMIM:609060	GFM1	85476	HP:0012448	Delayed myelination
OMIM:609060	GFM1	85476	HP:0000639	Nystagmus
OMIM:609060	GFM1	85476	HP:0002151	Increased serum lactate
OMIM:609060	GFM1	85476	HP:0001396	Cholestasis
OMIM:238600	LMF1	64788	HP:0000007	Autosomal recessive inheritance
OMIM:238600	LMF1	64788	HP:0001744	Splenomegaly
OMIM:238600	LMF1	64788	HP:0000660	Lipemia retinalis
OMIM:238600	LMF1	64788	HP:0001433	Hepatosplenomegaly
OMIM:238600	LMF1	64788	HP:0012238	Hyperchylomicronemia
OMIM:238600	LMF1	64788	HP:0002013	Vomiting
OMIM:238600	LMF1	64788	HP:0002018	Nausea
OMIM:238600	LMF1	64788	HP:0002574	Episodic abdominal pain
OMIM:238600	LMF1	64788	HP:0001733	Pancreatitis
OMIM:238600	LMF1	64788	HP:0003077	Hyperlipidemia
OMIM:238600	LMF1	64788	HP:0003124	Hypercholesterolemia
OMIM:238600	LMF1	64788	HP:0000952	Jaundice
OMIM:238600	LMF1	64788	HP:0001013	Eruptive xanthomas
OMIM:238600	LPL	4023	HP:0000007	Autosomal recessive inheritance
OMIM:238600	LPL	4023	HP:0001744	Splenomegaly
OMIM:238600	LPL	4023	HP:0000660	Lipemia retinalis
OMIM:238600	LPL	4023	HP:0001433	Hepatosplenomegaly
OMIM:238600	LPL	4023	HP:0012238	Hyperchylomicronemia
OMIM:238600	LPL	4023	HP:0002013	Vomiting
OMIM:238600	LPL	4023	HP:0002018	Nausea
OMIM:238600	LPL	4023	HP:0002574	Episodic abdominal pain
OMIM:238600	LPL	4023	HP:0001733	Pancreatitis
OMIM:238600	LPL	4023	HP:0003077	Hyperlipidemia
OMIM:238600	LPL	4023	HP:0003124	Hypercholesterolemia
OMIM:238600	LPL	4023	HP:0000952	Jaundice
OMIM:238600	LPL	4023	HP:0001013	Eruptive xanthomas
OMIM:238600	GPIHBP1	338328	HP:0000007	Autosomal recessive inheritance
OMIM:238600	GPIHBP1	338328	HP:0001744	Splenomegaly
OMIM:238600	GPIHBP1	338328	HP:0000660	Lipemia retinalis
OMIM:238600	GPIHBP1	338328	HP:0001433	Hepatosplenomegaly
OMIM:238600	GPIHBP1	338328	HP:0012238	Hyperchylomicronemia
OMIM:238600	GPIHBP1	338328	HP:0002013	Vomiting
OMIM:238600	GPIHBP1	338328	HP:0002018	Nausea
OMIM:238600	GPIHBP1	338328	HP:0002574	Episodic abdominal pain
OMIM:238600	GPIHBP1	338328	HP:0001733	Pancreatitis
OMIM:238600	GPIHBP1	338328	HP:0003077	Hyperlipidemia
OMIM:238600	GPIHBP1	338328	HP:0003124	Hypercholesterolemia
OMIM:238600	GPIHBP1	338328	HP:0000952	Jaundice
OMIM:238600	GPIHBP1	338328	HP:0001013	Eruptive xanthomas
OMIM:600638	TUBB2B	347733	HP:0000508	Ptosis
OMIM:600638	TUBB2B	347733	HP:0003812	Phenotypic variability
OMIM:600638	TUBB2B	347733	HP:0100490	Camptodactyly of finger
OMIM:600638	TUBB2B	347733	HP:0000577	Exotropia
OMIM:600638	TUBB2B	347733	HP:0001274	Agenesis of corpus callosum
OMIM:600638	TUBB2B	347733	HP:0000006	Autosomal dominant inheritance
OMIM:600638	TUBB2B	347733	HP:0001263	Global developmental delay
OMIM:600638	TUBB2B	347733	HP:0010628	Facial palsy
OMIM:600638	TUBB2B	347733	HP:0003477	Peripheral axonal neuropathy
OMIM:600638	TUBB2B	347733	HP:0001328	Specific learning disability
OMIM:600638	TUBB2B	347733	HP:0000646	Amblyopia
OMIM:600638	PHOX2A	401	HP:0000508	Ptosis
OMIM:600638	PHOX2A	401	HP:0003812	Phenotypic variability
OMIM:600638	PHOX2A	401	HP:0100490	Camptodactyly of finger
OMIM:600638	PHOX2A	401	HP:0000577	Exotropia
OMIM:600638	PHOX2A	401	HP:0001274	Agenesis of corpus callosum
OMIM:600638	PHOX2A	401	HP:0000006	Autosomal dominant inheritance
OMIM:600638	PHOX2A	401	HP:0001263	Global developmental delay
OMIM:600638	PHOX2A	401	HP:0010628	Facial palsy
OMIM:600638	PHOX2A	401	HP:0003477	Peripheral axonal neuropathy
OMIM:600638	PHOX2A	401	HP:0001328	Specific learning disability
OMIM:600638	PHOX2A	401	HP:0000646	Amblyopia
OMIM:600638	KIF21A	55605	HP:0000508	Ptosis
OMIM:600638	KIF21A	55605	HP:0003812	Phenotypic variability
OMIM:600638	KIF21A	55605	HP:0100490	Camptodactyly of finger
OMIM:600638	KIF21A	55605	HP:0000577	Exotropia
OMIM:600638	KIF21A	55605	HP:0001274	Agenesis of corpus callosum
OMIM:600638	KIF21A	55605	HP:0000006	Autosomal dominant inheritance
OMIM:600638	KIF21A	55605	HP:0001263	Global developmental delay
OMIM:600638	KIF21A	55605	HP:0010628	Facial palsy
OMIM:600638	KIF21A	55605	HP:0003477	Peripheral axonal neuropathy
OMIM:600638	KIF21A	55605	HP:0001328	Specific learning disability
OMIM:600638	KIF21A	55605	HP:0000646	Amblyopia
OMIM:600638	COL25A1	84570	HP:0000508	Ptosis
OMIM:600638	COL25A1	84570	HP:0003812	Phenotypic variability
OMIM:600638	COL25A1	84570	HP:0100490	Camptodactyly of finger
OMIM:600638	COL25A1	84570	HP:0000577	Exotropia
OMIM:600638	COL25A1	84570	HP:0001274	Agenesis of corpus callosum
OMIM:600638	COL25A1	84570	HP:0000006	Autosomal dominant inheritance
OMIM:600638	COL25A1	84570	HP:0001263	Global developmental delay
OMIM:600638	COL25A1	84570	HP:0010628	Facial palsy
OMIM:600638	COL25A1	84570	HP:0003477	Peripheral axonal neuropathy
OMIM:600638	COL25A1	84570	HP:0001328	Specific learning disability
OMIM:600638	COL25A1	84570	HP:0000646	Amblyopia
OMIM:600638	TUBB3	10381	HP:0000508	Ptosis
OMIM:600638	TUBB3	10381	HP:0003812	Phenotypic variability
OMIM:600638	TUBB3	10381	HP:0100490	Camptodactyly of finger
OMIM:600638	TUBB3	10381	HP:0000577	Exotropia
OMIM:600638	TUBB3	10381	HP:0001274	Agenesis of corpus callosum
OMIM:600638	TUBB3	10381	HP:0000006	Autosomal dominant inheritance
OMIM:600638	TUBB3	10381	HP:0001263	Global developmental delay
OMIM:600638	TUBB3	10381	HP:0010628	Facial palsy
OMIM:600638	TUBB3	10381	HP:0003477	Peripheral axonal neuropathy
OMIM:600638	TUBB3	10381	HP:0001328	Specific learning disability
OMIM:600638	TUBB3	10381	HP:0000646	Amblyopia
OMIM:615771	TUBB	203068	HP:0002539	Cortical dysplasia
OMIM:615771	TUBB	203068	HP:0007973	Retinal dysplasia
OMIM:615771	TUBB	203068	HP:0000252	Microcephaly
OMIM:615771	TUBB	203068	HP:0000568	Microphthalmia
OMIM:615771	TUBB	203068	HP:0001251	Ataxia
OMIM:615771	TUBB	203068	HP:0002126	Polymicrogyria
OMIM:615771	TUBB	203068	HP:0000750	Delayed speech and language development
OMIM:615771	TUBB	203068	HP:0001263	Global developmental delay
OMIM:615771	TUBB	203068	HP:0001321	Cerebellar hypoplasia
OMIM:615771	TUBB	203068	HP:0002365	Hypoplasia of the brainstem
OMIM:182920	MYOT	9499	HP:0003828	Variable expressivity
OMIM:182920	MYOT	9499	HP:0003677	Slow progression
OMIM:182920	MYOT	9499	HP:0002515	Waddling gait
OMIM:182920	MYOT	9499	HP:0003236	Elevated serum creatine phosphokinase
OMIM:182920	MYOT	9499	HP:0001611	Nasal speech
OMIM:182920	MYOT	9499	HP:0003674	Onset
OMIM:182920	MYOT	9499	HP:0000006	Autosomal dominant inheritance
OMIM:182920	MYOT	9499	HP:0002015	Dysphagia
OMIM:182920	MYOT	9499	HP:0003198	Myopathy
OMIM:182920	MYOT	9499	HP:0003202	Skeletal muscle atrophy
OMIM:614036	A2M	2	HP:0000006	Autosomal dominant inheritance
OMIM:231300	LTBP2	4053	HP:0001425	Heterogeneous
OMIM:231300	LTBP2	4053	HP:0000557	Buphthalmos
OMIM:231300	LTBP2	4053	HP:0000007	Autosomal recessive inheritance
OMIM:231300	CYP1B1	1545	HP:0001425	Heterogeneous
OMIM:231300	CYP1B1	1545	HP:0000557	Buphthalmos
OMIM:231300	CYP1B1	1545	HP:0000007	Autosomal recessive inheritance
OMIM:231300	MYOC	4653	HP:0001425	Heterogeneous
OMIM:231300	MYOC	4653	HP:0000557	Buphthalmos
OMIM:231300	MYOC	4653	HP:0000007	Autosomal recessive inheritance
OMIM:209900	MKKS	8195	HP:0000678	Dental crowding
OMIM:209900	MKKS	8195	HP:0001162	Postaxial hand polydactyly
OMIM:209900	MKKS	8195	HP:0002167	Neurological speech impairment
OMIM:209900	MKKS	8195	HP:0001773	Short foot
OMIM:209900	MKKS	8195	HP:0000365	Hearing impairment
OMIM:209900	MKKS	8195	HP:0001159	Syndactyly
OMIM:209900	MKKS	8195	HP:0000483	Astigmatism
OMIM:209900	MKKS	8195	HP:0002370	Poor coordination
OMIM:209900	MKKS	8195	HP:0001829	Foot polydactyly
OMIM:209900	MKKS	8195	HP:0000256	Macrocephaly
OMIM:209900	MKKS	8195	HP:0001156	Brachydactyly syndrome
OMIM:209900	MKKS	8195	HP:0000668	Hypodontia
OMIM:209900	MKKS	8195	HP:0001395	Hepatic fibrosis
OMIM:209900	MKKS	8195	HP:0002099	Asthma
OMIM:209900	MKKS	8195	HP:0001328	Specific learning disability
OMIM:209900	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:209900	MKKS	8195	HP:0000822	Hypertension
OMIM:209900	MKKS	8195	HP:0000135	Hypogonadism
OMIM:209900	MKKS	8195	HP:0001712	Left ventricular hypertrophy
OMIM:209900	MKKS	8195	HP:0008734	Decreased testicular size
OMIM:209900	MKKS	8195	HP:0000148	Vaginal atresia
OMIM:209900	MKKS	8195	HP:0001263	Global developmental delay
OMIM:209900	MKKS	8195	HP:0000518	Cataract
OMIM:209900	MKKS	8195	HP:0000077	Abnormality of the kidney
OMIM:209900	MKKS	8195	HP:0000546	Retinal degeneration
OMIM:209900	MKKS	8195	HP:0002251	Aganglionic megacolon
OMIM:209900	MKKS	8195	HP:0009466	Radial deviation of finger
OMIM:209900	MKKS	8195	HP:0000054	Micropenis
OMIM:209900	MKKS	8195	HP:0000819	Diabetes mellitus
OMIM:209900	MKKS	8195	HP:0000501	Glaucoma
OMIM:209900	MKKS	8195	HP:0001249	Intellectual disability
OMIM:209900	MKKS	8195	HP:0000137	Abnormality of the ovary
OMIM:209900	MKKS	8195	HP:0000486	Strabismus
OMIM:209900	MKKS	8195	HP:0000750	Delayed speech and language development
OMIM:209900	MKKS	8195	HP:0001080	Biliary tract abnormality
OMIM:209900	MKKS	8195	HP:0001007	Hirsutism
OMIM:209900	MKKS	8195	HP:0001513	Obesity
OMIM:209900	MKKS	8195	HP:0002141	Gait imbalance
OMIM:209900	MKKS	8195	HP:0000545	Myopia
OMIM:209900	MKKS	8195	HP:0000218	High palate
OMIM:209900	MKKS	8195	HP:0000007	Autosomal recessive inheritance
OMIM:209900	MKKS	8195	HP:0000639	Nystagmus
OMIM:209900	MKKS	8195	HP:0001251	Ataxia
OMIM:209900	NPHP1	4867	HP:0000678	Dental crowding
OMIM:209900	NPHP1	4867	HP:0001162	Postaxial hand polydactyly
OMIM:209900	NPHP1	4867	HP:0002167	Neurological speech impairment
OMIM:209900	NPHP1	4867	HP:0001773	Short foot
OMIM:209900	NPHP1	4867	HP:0000365	Hearing impairment
OMIM:209900	NPHP1	4867	HP:0001159	Syndactyly
OMIM:209900	NPHP1	4867	HP:0000483	Astigmatism
OMIM:209900	NPHP1	4867	HP:0002370	Poor coordination
OMIM:209900	NPHP1	4867	HP:0001829	Foot polydactyly
OMIM:209900	NPHP1	4867	HP:0000256	Macrocephaly
OMIM:209900	NPHP1	4867	HP:0001156	Brachydactyly syndrome
OMIM:209900	NPHP1	4867	HP:0000668	Hypodontia
OMIM:209900	NPHP1	4867	HP:0001395	Hepatic fibrosis
OMIM:209900	NPHP1	4867	HP:0002099	Asthma
OMIM:209900	NPHP1	4867	HP:0001328	Specific learning disability
OMIM:209900	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:209900	NPHP1	4867	HP:0000822	Hypertension
OMIM:209900	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:209900	NPHP1	4867	HP:0001712	Left ventricular hypertrophy
OMIM:209900	NPHP1	4867	HP:0008734	Decreased testicular size
OMIM:209900	NPHP1	4867	HP:0000148	Vaginal atresia
OMIM:209900	NPHP1	4867	HP:0001263	Global developmental delay
OMIM:209900	NPHP1	4867	HP:0000518	Cataract
OMIM:209900	NPHP1	4867	HP:0000077	Abnormality of the kidney
OMIM:209900	NPHP1	4867	HP:0000546	Retinal degeneration
OMIM:209900	NPHP1	4867	HP:0002251	Aganglionic megacolon
OMIM:209900	NPHP1	4867	HP:0009466	Radial deviation of finger
OMIM:209900	NPHP1	4867	HP:0000054	Micropenis
OMIM:209900	NPHP1	4867	HP:0000819	Diabetes mellitus
OMIM:209900	NPHP1	4867	HP:0000501	Glaucoma
OMIM:209900	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:209900	NPHP1	4867	HP:0000137	Abnormality of the ovary
OMIM:209900	NPHP1	4867	HP:0000486	Strabismus
OMIM:209900	NPHP1	4867	HP:0000750	Delayed speech and language development
OMIM:209900	NPHP1	4867	HP:0001080	Biliary tract abnormality
OMIM:209900	NPHP1	4867	HP:0001007	Hirsutism
OMIM:209900	NPHP1	4867	HP:0001513	Obesity
OMIM:209900	NPHP1	4867	HP:0002141	Gait imbalance
OMIM:209900	NPHP1	4867	HP:0000545	Myopia
OMIM:209900	NPHP1	4867	HP:0000218	High palate
OMIM:209900	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:209900	NPHP1	4867	HP:0000639	Nystagmus
OMIM:209900	NPHP1	4867	HP:0001251	Ataxia
OMIM:209900	BBIP1	92482	HP:0000678	Dental crowding
OMIM:209900	BBIP1	92482	HP:0001162	Postaxial hand polydactyly
OMIM:209900	BBIP1	92482	HP:0002167	Neurological speech impairment
OMIM:209900	BBIP1	92482	HP:0001773	Short foot
OMIM:209900	BBIP1	92482	HP:0000365	Hearing impairment
OMIM:209900	BBIP1	92482	HP:0001159	Syndactyly
OMIM:209900	BBIP1	92482	HP:0000483	Astigmatism
OMIM:209900	BBIP1	92482	HP:0002370	Poor coordination
OMIM:209900	BBIP1	92482	HP:0001829	Foot polydactyly
OMIM:209900	BBIP1	92482	HP:0000256	Macrocephaly
OMIM:209900	BBIP1	92482	HP:0001156	Brachydactyly syndrome
OMIM:209900	BBIP1	92482	HP:0000668	Hypodontia
OMIM:209900	BBIP1	92482	HP:0001395	Hepatic fibrosis
OMIM:209900	BBIP1	92482	HP:0002099	Asthma
OMIM:209900	BBIP1	92482	HP:0001328	Specific learning disability
OMIM:209900	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:209900	BBIP1	92482	HP:0000822	Hypertension
OMIM:209900	BBIP1	92482	HP:0000135	Hypogonadism
OMIM:209900	BBIP1	92482	HP:0001712	Left ventricular hypertrophy
OMIM:209900	BBIP1	92482	HP:0008734	Decreased testicular size
OMIM:209900	BBIP1	92482	HP:0000148	Vaginal atresia
OMIM:209900	BBIP1	92482	HP:0001263	Global developmental delay
OMIM:209900	BBIP1	92482	HP:0000518	Cataract
OMIM:209900	BBIP1	92482	HP:0000077	Abnormality of the kidney
OMIM:209900	BBIP1	92482	HP:0000546	Retinal degeneration
OMIM:209900	BBIP1	92482	HP:0002251	Aganglionic megacolon
OMIM:209900	BBIP1	92482	HP:0009466	Radial deviation of finger
OMIM:209900	BBIP1	92482	HP:0000054	Micropenis
OMIM:209900	BBIP1	92482	HP:0000819	Diabetes mellitus
OMIM:209900	BBIP1	92482	HP:0000501	Glaucoma
OMIM:209900	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:209900	BBIP1	92482	HP:0000137	Abnormality of the ovary
OMIM:209900	BBIP1	92482	HP:0000486	Strabismus
OMIM:209900	BBIP1	92482	HP:0000750	Delayed speech and language development
OMIM:209900	BBIP1	92482	HP:0001080	Biliary tract abnormality
OMIM:209900	BBIP1	92482	HP:0001007	Hirsutism
OMIM:209900	BBIP1	92482	HP:0001513	Obesity
OMIM:209900	BBIP1	92482	HP:0002141	Gait imbalance
OMIM:209900	BBIP1	92482	HP:0000545	Myopia
OMIM:209900	BBIP1	92482	HP:0000218	High palate
OMIM:209900	BBIP1	92482	HP:0000007	Autosomal recessive inheritance
OMIM:209900	BBIP1	92482	HP:0000639	Nystagmus
OMIM:209900	BBIP1	92482	HP:0001251	Ataxia
OMIM:209900	ARL6	84100	HP:0000678	Dental crowding
OMIM:209900	ARL6	84100	HP:0001162	Postaxial hand polydactyly
OMIM:209900	ARL6	84100	HP:0002167	Neurological speech impairment
OMIM:209900	ARL6	84100	HP:0001773	Short foot
OMIM:209900	ARL6	84100	HP:0000365	Hearing impairment
OMIM:209900	ARL6	84100	HP:0001159	Syndactyly
OMIM:209900	ARL6	84100	HP:0000483	Astigmatism
OMIM:209900	ARL6	84100	HP:0002370	Poor coordination
OMIM:209900	ARL6	84100	HP:0001829	Foot polydactyly
OMIM:209900	ARL6	84100	HP:0000256	Macrocephaly
OMIM:209900	ARL6	84100	HP:0001156	Brachydactyly syndrome
OMIM:209900	ARL6	84100	HP:0000668	Hypodontia
OMIM:209900	ARL6	84100	HP:0001395	Hepatic fibrosis
OMIM:209900	ARL6	84100	HP:0002099	Asthma
OMIM:209900	ARL6	84100	HP:0001328	Specific learning disability
OMIM:209900	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:209900	ARL6	84100	HP:0000822	Hypertension
OMIM:209900	ARL6	84100	HP:0000135	Hypogonadism
OMIM:209900	ARL6	84100	HP:0001712	Left ventricular hypertrophy
OMIM:209900	ARL6	84100	HP:0008734	Decreased testicular size
OMIM:209900	ARL6	84100	HP:0000148	Vaginal atresia
OMIM:209900	ARL6	84100	HP:0001263	Global developmental delay
OMIM:209900	ARL6	84100	HP:0000518	Cataract
OMIM:209900	ARL6	84100	HP:0000077	Abnormality of the kidney
OMIM:209900	ARL6	84100	HP:0000546	Retinal degeneration
OMIM:209900	ARL6	84100	HP:0002251	Aganglionic megacolon
OMIM:209900	ARL6	84100	HP:0009466	Radial deviation of finger
OMIM:209900	ARL6	84100	HP:0000054	Micropenis
OMIM:209900	ARL6	84100	HP:0000819	Diabetes mellitus
OMIM:209900	ARL6	84100	HP:0000501	Glaucoma
OMIM:209900	ARL6	84100	HP:0001249	Intellectual disability
OMIM:209900	ARL6	84100	HP:0000137	Abnormality of the ovary
OMIM:209900	ARL6	84100	HP:0000486	Strabismus
OMIM:209900	ARL6	84100	HP:0000750	Delayed speech and language development
OMIM:209900	ARL6	84100	HP:0001080	Biliary tract abnormality
OMIM:209900	ARL6	84100	HP:0001007	Hirsutism
OMIM:209900	ARL6	84100	HP:0001513	Obesity
OMIM:209900	ARL6	84100	HP:0002141	Gait imbalance
OMIM:209900	ARL6	84100	HP:0000545	Myopia
OMIM:209900	ARL6	84100	HP:0000218	High palate
OMIM:209900	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:209900	ARL6	84100	HP:0000639	Nystagmus
OMIM:209900	ARL6	84100	HP:0001251	Ataxia
OMIM:209900	BBS1	582	HP:0000678	Dental crowding
OMIM:209900	BBS1	582	HP:0001162	Postaxial hand polydactyly
OMIM:209900	BBS1	582	HP:0002167	Neurological speech impairment
OMIM:209900	BBS1	582	HP:0001773	Short foot
OMIM:209900	BBS1	582	HP:0000365	Hearing impairment
OMIM:209900	BBS1	582	HP:0001159	Syndactyly
OMIM:209900	BBS1	582	HP:0000483	Astigmatism
OMIM:209900	BBS1	582	HP:0002370	Poor coordination
OMIM:209900	BBS1	582	HP:0001829	Foot polydactyly
OMIM:209900	BBS1	582	HP:0000256	Macrocephaly
OMIM:209900	BBS1	582	HP:0001156	Brachydactyly syndrome
OMIM:209900	BBS1	582	HP:0000668	Hypodontia
OMIM:209900	BBS1	582	HP:0001395	Hepatic fibrosis
OMIM:209900	BBS1	582	HP:0002099	Asthma
OMIM:209900	BBS1	582	HP:0001328	Specific learning disability
OMIM:209900	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:209900	BBS1	582	HP:0000822	Hypertension
OMIM:209900	BBS1	582	HP:0000135	Hypogonadism
OMIM:209900	BBS1	582	HP:0001712	Left ventricular hypertrophy
OMIM:209900	BBS1	582	HP:0008734	Decreased testicular size
OMIM:209900	BBS1	582	HP:0000148	Vaginal atresia
OMIM:209900	BBS1	582	HP:0001263	Global developmental delay
OMIM:209900	BBS1	582	HP:0000518	Cataract
OMIM:209900	BBS1	582	HP:0000077	Abnormality of the kidney
OMIM:209900	BBS1	582	HP:0000546	Retinal degeneration
OMIM:209900	BBS1	582	HP:0002251	Aganglionic megacolon
OMIM:209900	BBS1	582	HP:0009466	Radial deviation of finger
OMIM:209900	BBS1	582	HP:0000054	Micropenis
OMIM:209900	BBS1	582	HP:0000819	Diabetes mellitus
OMIM:209900	BBS1	582	HP:0000501	Glaucoma
OMIM:209900	BBS1	582	HP:0001249	Intellectual disability
OMIM:209900	BBS1	582	HP:0000137	Abnormality of the ovary
OMIM:209900	BBS1	582	HP:0000486	Strabismus
OMIM:209900	BBS1	582	HP:0000750	Delayed speech and language development
OMIM:209900	BBS1	582	HP:0001080	Biliary tract abnormality
OMIM:209900	BBS1	582	HP:0001007	Hirsutism
OMIM:209900	BBS1	582	HP:0001513	Obesity
OMIM:209900	BBS1	582	HP:0002141	Gait imbalance
OMIM:209900	BBS1	582	HP:0000545	Myopia
OMIM:209900	BBS1	582	HP:0000218	High palate
OMIM:209900	BBS1	582	HP:0000007	Autosomal recessive inheritance
OMIM:209900	BBS1	582	HP:0000639	Nystagmus
OMIM:209900	BBS1	582	HP:0001251	Ataxia
OMIM:209900	BBS2	583	HP:0000678	Dental crowding
OMIM:209900	BBS2	583	HP:0001162	Postaxial hand polydactyly
OMIM:209900	BBS2	583	HP:0002167	Neurological speech impairment
OMIM:209900	BBS2	583	HP:0001773	Short foot
OMIM:209900	BBS2	583	HP:0000365	Hearing impairment
OMIM:209900	BBS2	583	HP:0001159	Syndactyly
OMIM:209900	BBS2	583	HP:0000483	Astigmatism
OMIM:209900	BBS2	583	HP:0002370	Poor coordination
OMIM:209900	BBS2	583	HP:0001829	Foot polydactyly
OMIM:209900	BBS2	583	HP:0000256	Macrocephaly
OMIM:209900	BBS2	583	HP:0001156	Brachydactyly syndrome
OMIM:209900	BBS2	583	HP:0000668	Hypodontia
OMIM:209900	BBS2	583	HP:0001395	Hepatic fibrosis
OMIM:209900	BBS2	583	HP:0002099	Asthma
OMIM:209900	BBS2	583	HP:0001328	Specific learning disability
OMIM:209900	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:209900	BBS2	583	HP:0000822	Hypertension
OMIM:209900	BBS2	583	HP:0000135	Hypogonadism
OMIM:209900	BBS2	583	HP:0001712	Left ventricular hypertrophy
OMIM:209900	BBS2	583	HP:0008734	Decreased testicular size
OMIM:209900	BBS2	583	HP:0000148	Vaginal atresia
OMIM:209900	BBS2	583	HP:0001263	Global developmental delay
OMIM:209900	BBS2	583	HP:0000518	Cataract
OMIM:209900	BBS2	583	HP:0000077	Abnormality of the kidney
OMIM:209900	BBS2	583	HP:0000546	Retinal degeneration
OMIM:209900	BBS2	583	HP:0002251	Aganglionic megacolon
OMIM:209900	BBS2	583	HP:0009466	Radial deviation of finger
OMIM:209900	BBS2	583	HP:0000054	Micropenis
OMIM:209900	BBS2	583	HP:0000819	Diabetes mellitus
OMIM:209900	BBS2	583	HP:0000501	Glaucoma
OMIM:209900	BBS2	583	HP:0001249	Intellectual disability
OMIM:209900	BBS2	583	HP:0000137	Abnormality of the ovary
OMIM:209900	BBS2	583	HP:0000486	Strabismus
OMIM:209900	BBS2	583	HP:0000750	Delayed speech and language development
OMIM:209900	BBS2	583	HP:0001080	Biliary tract abnormality
OMIM:209900	BBS2	583	HP:0001007	Hirsutism
OMIM:209900	BBS2	583	HP:0001513	Obesity
OMIM:209900	BBS2	583	HP:0002141	Gait imbalance
OMIM:209900	BBS2	583	HP:0000545	Myopia
OMIM:209900	BBS2	583	HP:0000218	High palate
OMIM:209900	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:209900	BBS2	583	HP:0000639	Nystagmus
OMIM:209900	BBS2	583	HP:0001251	Ataxia
OMIM:209900	BBS4	585	HP:0000678	Dental crowding
OMIM:209900	BBS4	585	HP:0001162	Postaxial hand polydactyly
OMIM:209900	BBS4	585	HP:0002167	Neurological speech impairment
OMIM:209900	BBS4	585	HP:0001773	Short foot
OMIM:209900	BBS4	585	HP:0000365	Hearing impairment
OMIM:209900	BBS4	585	HP:0001159	Syndactyly
OMIM:209900	BBS4	585	HP:0000483	Astigmatism
OMIM:209900	BBS4	585	HP:0002370	Poor coordination
OMIM:209900	BBS4	585	HP:0001829	Foot polydactyly
OMIM:209900	BBS4	585	HP:0000256	Macrocephaly
OMIM:209900	BBS4	585	HP:0001156	Brachydactyly syndrome
OMIM:209900	BBS4	585	HP:0000668	Hypodontia
OMIM:209900	BBS4	585	HP:0001395	Hepatic fibrosis
OMIM:209900	BBS4	585	HP:0002099	Asthma
OMIM:209900	BBS4	585	HP:0001328	Specific learning disability
OMIM:209900	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:209900	BBS4	585	HP:0000822	Hypertension
OMIM:209900	BBS4	585	HP:0000135	Hypogonadism
OMIM:209900	BBS4	585	HP:0001712	Left ventricular hypertrophy
OMIM:209900	BBS4	585	HP:0008734	Decreased testicular size
OMIM:209900	BBS4	585	HP:0000148	Vaginal atresia
OMIM:209900	BBS4	585	HP:0001263	Global developmental delay
OMIM:209900	BBS4	585	HP:0000518	Cataract
OMIM:209900	BBS4	585	HP:0000077	Abnormality of the kidney
OMIM:209900	BBS4	585	HP:0000546	Retinal degeneration
OMIM:209900	BBS4	585	HP:0002251	Aganglionic megacolon
OMIM:209900	BBS4	585	HP:0009466	Radial deviation of finger
OMIM:209900	BBS4	585	HP:0000054	Micropenis
OMIM:209900	BBS4	585	HP:0000819	Diabetes mellitus
OMIM:209900	BBS4	585	HP:0000501	Glaucoma
OMIM:209900	BBS4	585	HP:0001249	Intellectual disability
OMIM:209900	BBS4	585	HP:0000137	Abnormality of the ovary
OMIM:209900	BBS4	585	HP:0000486	Strabismus
OMIM:209900	BBS4	585	HP:0000750	Delayed speech and language development
OMIM:209900	BBS4	585	HP:0001080	Biliary tract abnormality
OMIM:209900	BBS4	585	HP:0001007	Hirsutism
OMIM:209900	BBS4	585	HP:0001513	Obesity
OMIM:209900	BBS4	585	HP:0002141	Gait imbalance
OMIM:209900	BBS4	585	HP:0000545	Myopia
OMIM:209900	BBS4	585	HP:0000218	High palate
OMIM:209900	BBS4	585	HP:0000007	Autosomal recessive inheritance
OMIM:209900	BBS4	585	HP:0000639	Nystagmus
OMIM:209900	BBS4	585	HP:0001251	Ataxia
OMIM:209900	BBS9	27241	HP:0000678	Dental crowding
OMIM:209900	BBS9	27241	HP:0001162	Postaxial hand polydactyly
OMIM:209900	BBS9	27241	HP:0002167	Neurological speech impairment
OMIM:209900	BBS9	27241	HP:0001773	Short foot
OMIM:209900	BBS9	27241	HP:0000365	Hearing impairment
OMIM:209900	BBS9	27241	HP:0001159	Syndactyly
OMIM:209900	BBS9	27241	HP:0000483	Astigmatism
OMIM:209900	BBS9	27241	HP:0002370	Poor coordination
OMIM:209900	BBS9	27241	HP:0001829	Foot polydactyly
OMIM:209900	BBS9	27241	HP:0000256	Macrocephaly
OMIM:209900	BBS9	27241	HP:0001156	Brachydactyly syndrome
OMIM:209900	BBS9	27241	HP:0000668	Hypodontia
OMIM:209900	BBS9	27241	HP:0001395	Hepatic fibrosis
OMIM:209900	BBS9	27241	HP:0002099	Asthma
OMIM:209900	BBS9	27241	HP:0001328	Specific learning disability
OMIM:209900	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:209900	BBS9	27241	HP:0000822	Hypertension
OMIM:209900	BBS9	27241	HP:0000135	Hypogonadism
OMIM:209900	BBS9	27241	HP:0001712	Left ventricular hypertrophy
OMIM:209900	BBS9	27241	HP:0008734	Decreased testicular size
OMIM:209900	BBS9	27241	HP:0000148	Vaginal atresia
OMIM:209900	BBS9	27241	HP:0001263	Global developmental delay
OMIM:209900	BBS9	27241	HP:0000518	Cataract
OMIM:209900	BBS9	27241	HP:0000077	Abnormality of the kidney
OMIM:209900	BBS9	27241	HP:0000546	Retinal degeneration
OMIM:209900	BBS9	27241	HP:0002251	Aganglionic megacolon
OMIM:209900	BBS9	27241	HP:0009466	Radial deviation of finger
OMIM:209900	BBS9	27241	HP:0000054	Micropenis
OMIM:209900	BBS9	27241	HP:0000819	Diabetes mellitus
OMIM:209900	BBS9	27241	HP:0000501	Glaucoma
OMIM:209900	BBS9	27241	HP:0001249	Intellectual disability
OMIM:209900	BBS9	27241	HP:0000137	Abnormality of the ovary
OMIM:209900	BBS9	27241	HP:0000486	Strabismus
OMIM:209900	BBS9	27241	HP:0000750	Delayed speech and language development
OMIM:209900	BBS9	27241	HP:0001080	Biliary tract abnormality
OMIM:209900	BBS9	27241	HP:0001007	Hirsutism
OMIM:209900	BBS9	27241	HP:0001513	Obesity
OMIM:209900	BBS9	27241	HP:0002141	Gait imbalance
OMIM:209900	BBS9	27241	HP:0000545	Myopia
OMIM:209900	BBS9	27241	HP:0000218	High palate
OMIM:209900	BBS9	27241	HP:0000007	Autosomal recessive inheritance
OMIM:209900	BBS9	27241	HP:0000639	Nystagmus
OMIM:209900	BBS9	27241	HP:0001251	Ataxia
OMIM:209900	TTC8	123016	HP:0000678	Dental crowding
OMIM:209900	TTC8	123016	HP:0001162	Postaxial hand polydactyly
OMIM:209900	TTC8	123016	HP:0002167	Neurological speech impairment
OMIM:209900	TTC8	123016	HP:0001773	Short foot
OMIM:209900	TTC8	123016	HP:0000365	Hearing impairment
OMIM:209900	TTC8	123016	HP:0001159	Syndactyly
OMIM:209900	TTC8	123016	HP:0000483	Astigmatism
OMIM:209900	TTC8	123016	HP:0002370	Poor coordination
OMIM:209900	TTC8	123016	HP:0001829	Foot polydactyly
OMIM:209900	TTC8	123016	HP:0000256	Macrocephaly
OMIM:209900	TTC8	123016	HP:0001156	Brachydactyly syndrome
OMIM:209900	TTC8	123016	HP:0000668	Hypodontia
OMIM:209900	TTC8	123016	HP:0001395	Hepatic fibrosis
OMIM:209900	TTC8	123016	HP:0002099	Asthma
OMIM:209900	TTC8	123016	HP:0001328	Specific learning disability
OMIM:209900	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:209900	TTC8	123016	HP:0000822	Hypertension
OMIM:209900	TTC8	123016	HP:0000135	Hypogonadism
OMIM:209900	TTC8	123016	HP:0001712	Left ventricular hypertrophy
OMIM:209900	TTC8	123016	HP:0008734	Decreased testicular size
OMIM:209900	TTC8	123016	HP:0000148	Vaginal atresia
OMIM:209900	TTC8	123016	HP:0001263	Global developmental delay
OMIM:209900	TTC8	123016	HP:0000518	Cataract
OMIM:209900	TTC8	123016	HP:0000077	Abnormality of the kidney
OMIM:209900	TTC8	123016	HP:0000546	Retinal degeneration
OMIM:209900	TTC8	123016	HP:0002251	Aganglionic megacolon
OMIM:209900	TTC8	123016	HP:0009466	Radial deviation of finger
OMIM:209900	TTC8	123016	HP:0000054	Micropenis
OMIM:209900	TTC8	123016	HP:0000819	Diabetes mellitus
OMIM:209900	TTC8	123016	HP:0000501	Glaucoma
OMIM:209900	TTC8	123016	HP:0001249	Intellectual disability
OMIM:209900	TTC8	123016	HP:0000137	Abnormality of the ovary
OMIM:209900	TTC8	123016	HP:0000486	Strabismus
OMIM:209900	TTC8	123016	HP:0000750	Delayed speech and language development
OMIM:209900	TTC8	123016	HP:0001080	Biliary tract abnormality
OMIM:209900	TTC8	123016	HP:0001007	Hirsutism
OMIM:209900	TTC8	123016	HP:0001513	Obesity
OMIM:209900	TTC8	123016	HP:0002141	Gait imbalance
OMIM:209900	TTC8	123016	HP:0000545	Myopia
OMIM:209900	TTC8	123016	HP:0000218	High palate
OMIM:209900	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:209900	TTC8	123016	HP:0000639	Nystagmus
OMIM:209900	TTC8	123016	HP:0001251	Ataxia
OMIM:209900	BBS12	166379	HP:0000678	Dental crowding
OMIM:209900	BBS12	166379	HP:0001162	Postaxial hand polydactyly
OMIM:209900	BBS12	166379	HP:0002167	Neurological speech impairment
OMIM:209900	BBS12	166379	HP:0001773	Short foot
OMIM:209900	BBS12	166379	HP:0000365	Hearing impairment
OMIM:209900	BBS12	166379	HP:0001159	Syndactyly
OMIM:209900	BBS12	166379	HP:0000483	Astigmatism
OMIM:209900	BBS12	166379	HP:0002370	Poor coordination
OMIM:209900	BBS12	166379	HP:0001829	Foot polydactyly
OMIM:209900	BBS12	166379	HP:0000256	Macrocephaly
OMIM:209900	BBS12	166379	HP:0001156	Brachydactyly syndrome
OMIM:209900	BBS12	166379	HP:0000668	Hypodontia
OMIM:209900	BBS12	166379	HP:0001395	Hepatic fibrosis
OMIM:209900	BBS12	166379	HP:0002099	Asthma
OMIM:209900	BBS12	166379	HP:0001328	Specific learning disability
OMIM:209900	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:209900	BBS12	166379	HP:0000822	Hypertension
OMIM:209900	BBS12	166379	HP:0000135	Hypogonadism
OMIM:209900	BBS12	166379	HP:0001712	Left ventricular hypertrophy
OMIM:209900	BBS12	166379	HP:0008734	Decreased testicular size
OMIM:209900	BBS12	166379	HP:0000148	Vaginal atresia
OMIM:209900	BBS12	166379	HP:0001263	Global developmental delay
OMIM:209900	BBS12	166379	HP:0000518	Cataract
OMIM:209900	BBS12	166379	HP:0000077	Abnormality of the kidney
OMIM:209900	BBS12	166379	HP:0000546	Retinal degeneration
OMIM:209900	BBS12	166379	HP:0002251	Aganglionic megacolon
OMIM:209900	BBS12	166379	HP:0009466	Radial deviation of finger
OMIM:209900	BBS12	166379	HP:0000054	Micropenis
OMIM:209900	BBS12	166379	HP:0000819	Diabetes mellitus
OMIM:209900	BBS12	166379	HP:0000501	Glaucoma
OMIM:209900	BBS12	166379	HP:0001249	Intellectual disability
OMIM:209900	BBS12	166379	HP:0000137	Abnormality of the ovary
OMIM:209900	BBS12	166379	HP:0000486	Strabismus
OMIM:209900	BBS12	166379	HP:0000750	Delayed speech and language development
OMIM:209900	BBS12	166379	HP:0001080	Biliary tract abnormality
OMIM:209900	BBS12	166379	HP:0001007	Hirsutism
OMIM:209900	BBS12	166379	HP:0001513	Obesity
OMIM:209900	BBS12	166379	HP:0002141	Gait imbalance
OMIM:209900	BBS12	166379	HP:0000545	Myopia
OMIM:209900	BBS12	166379	HP:0000218	High palate
OMIM:209900	BBS12	166379	HP:0000007	Autosomal recessive inheritance
OMIM:209900	BBS12	166379	HP:0000639	Nystagmus
OMIM:209900	BBS12	166379	HP:0001251	Ataxia
OMIM:209900	TRIM32	22954	HP:0000678	Dental crowding
OMIM:209900	TRIM32	22954	HP:0001162	Postaxial hand polydactyly
OMIM:209900	TRIM32	22954	HP:0002167	Neurological speech impairment
OMIM:209900	TRIM32	22954	HP:0001773	Short foot
OMIM:209900	TRIM32	22954	HP:0000365	Hearing impairment
OMIM:209900	TRIM32	22954	HP:0001159	Syndactyly
OMIM:209900	TRIM32	22954	HP:0000483	Astigmatism
OMIM:209900	TRIM32	22954	HP:0002370	Poor coordination
OMIM:209900	TRIM32	22954	HP:0001829	Foot polydactyly
OMIM:209900	TRIM32	22954	HP:0000256	Macrocephaly
OMIM:209900	TRIM32	22954	HP:0001156	Brachydactyly syndrome
OMIM:209900	TRIM32	22954	HP:0000668	Hypodontia
OMIM:209900	TRIM32	22954	HP:0001395	Hepatic fibrosis
OMIM:209900	TRIM32	22954	HP:0002099	Asthma
OMIM:209900	TRIM32	22954	HP:0001328	Specific learning disability
OMIM:209900	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:209900	TRIM32	22954	HP:0000822	Hypertension
OMIM:209900	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:209900	TRIM32	22954	HP:0001712	Left ventricular hypertrophy
OMIM:209900	TRIM32	22954	HP:0008734	Decreased testicular size
OMIM:209900	TRIM32	22954	HP:0000148	Vaginal atresia
OMIM:209900	TRIM32	22954	HP:0001263	Global developmental delay
OMIM:209900	TRIM32	22954	HP:0000518	Cataract
OMIM:209900	TRIM32	22954	HP:0000077	Abnormality of the kidney
OMIM:209900	TRIM32	22954	HP:0000546	Retinal degeneration
OMIM:209900	TRIM32	22954	HP:0002251	Aganglionic megacolon
OMIM:209900	TRIM32	22954	HP:0009466	Radial deviation of finger
OMIM:209900	TRIM32	22954	HP:0000054	Micropenis
OMIM:209900	TRIM32	22954	HP:0000819	Diabetes mellitus
OMIM:209900	TRIM32	22954	HP:0000501	Glaucoma
OMIM:209900	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:209900	TRIM32	22954	HP:0000137	Abnormality of the ovary
OMIM:209900	TRIM32	22954	HP:0000486	Strabismus
OMIM:209900	TRIM32	22954	HP:0000750	Delayed speech and language development
OMIM:209900	TRIM32	22954	HP:0001080	Biliary tract abnormality
OMIM:209900	TRIM32	22954	HP:0001007	Hirsutism
OMIM:209900	TRIM32	22954	HP:0001513	Obesity
OMIM:209900	TRIM32	22954	HP:0002141	Gait imbalance
OMIM:209900	TRIM32	22954	HP:0000545	Myopia
OMIM:209900	TRIM32	22954	HP:0000218	High palate
OMIM:209900	TRIM32	22954	HP:0000007	Autosomal recessive inheritance
OMIM:209900	TRIM32	22954	HP:0000639	Nystagmus
OMIM:209900	TRIM32	22954	HP:0001251	Ataxia
OMIM:209900	BBS7	55212	HP:0000678	Dental crowding
OMIM:209900	BBS7	55212	HP:0001162	Postaxial hand polydactyly
OMIM:209900	BBS7	55212	HP:0002167	Neurological speech impairment
OMIM:209900	BBS7	55212	HP:0001773	Short foot
OMIM:209900	BBS7	55212	HP:0000365	Hearing impairment
OMIM:209900	BBS7	55212	HP:0001159	Syndactyly
OMIM:209900	BBS7	55212	HP:0000483	Astigmatism
OMIM:209900	BBS7	55212	HP:0002370	Poor coordination
OMIM:209900	BBS7	55212	HP:0001829	Foot polydactyly
OMIM:209900	BBS7	55212	HP:0000256	Macrocephaly
OMIM:209900	BBS7	55212	HP:0001156	Brachydactyly syndrome
OMIM:209900	BBS7	55212	HP:0000668	Hypodontia
OMIM:209900	BBS7	55212	HP:0001395	Hepatic fibrosis
OMIM:209900	BBS7	55212	HP:0002099	Asthma
OMIM:209900	BBS7	55212	HP:0001328	Specific learning disability
OMIM:209900	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:209900	BBS7	55212	HP:0000822	Hypertension
OMIM:209900	BBS7	55212	HP:0000135	Hypogonadism
OMIM:209900	BBS7	55212	HP:0001712	Left ventricular hypertrophy
OMIM:209900	BBS7	55212	HP:0008734	Decreased testicular size
OMIM:209900	BBS7	55212	HP:0000148	Vaginal atresia
OMIM:209900	BBS7	55212	HP:0001263	Global developmental delay
OMIM:209900	BBS7	55212	HP:0000518	Cataract
OMIM:209900	BBS7	55212	HP:0000077	Abnormality of the kidney
OMIM:209900	BBS7	55212	HP:0000546	Retinal degeneration
OMIM:209900	BBS7	55212	HP:0002251	Aganglionic megacolon
OMIM:209900	BBS7	55212	HP:0009466	Radial deviation of finger
OMIM:209900	BBS7	55212	HP:0000054	Micropenis
OMIM:209900	BBS7	55212	HP:0000819	Diabetes mellitus
OMIM:209900	BBS7	55212	HP:0000501	Glaucoma
OMIM:209900	BBS7	55212	HP:0001249	Intellectual disability
OMIM:209900	BBS7	55212	HP:0000137	Abnormality of the ovary
OMIM:209900	BBS7	55212	HP:0000486	Strabismus
OMIM:209900	BBS7	55212	HP:0000750	Delayed speech and language development
OMIM:209900	BBS7	55212	HP:0001080	Biliary tract abnormality
OMIM:209900	BBS7	55212	HP:0001007	Hirsutism
OMIM:209900	BBS7	55212	HP:0001513	Obesity
OMIM:209900	BBS7	55212	HP:0002141	Gait imbalance
OMIM:209900	BBS7	55212	HP:0000545	Myopia
OMIM:209900	BBS7	55212	HP:0000218	High palate
OMIM:209900	BBS7	55212	HP:0000007	Autosomal recessive inheritance
OMIM:209900	BBS7	55212	HP:0000639	Nystagmus
OMIM:209900	BBS7	55212	HP:0001251	Ataxia
OMIM:209900	IFT27	11020	HP:0000678	Dental crowding
OMIM:209900	IFT27	11020	HP:0001162	Postaxial hand polydactyly
OMIM:209900	IFT27	11020	HP:0002167	Neurological speech impairment
OMIM:209900	IFT27	11020	HP:0001773	Short foot
OMIM:209900	IFT27	11020	HP:0000365	Hearing impairment
OMIM:209900	IFT27	11020	HP:0001159	Syndactyly
OMIM:209900	IFT27	11020	HP:0000483	Astigmatism
OMIM:209900	IFT27	11020	HP:0002370	Poor coordination
OMIM:209900	IFT27	11020	HP:0001829	Foot polydactyly
OMIM:209900	IFT27	11020	HP:0000256	Macrocephaly
OMIM:209900	IFT27	11020	HP:0001156	Brachydactyly syndrome
OMIM:209900	IFT27	11020	HP:0000668	Hypodontia
OMIM:209900	IFT27	11020	HP:0001395	Hepatic fibrosis
OMIM:209900	IFT27	11020	HP:0002099	Asthma
OMIM:209900	IFT27	11020	HP:0001328	Specific learning disability
OMIM:209900	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:209900	IFT27	11020	HP:0000822	Hypertension
OMIM:209900	IFT27	11020	HP:0000135	Hypogonadism
OMIM:209900	IFT27	11020	HP:0001712	Left ventricular hypertrophy
OMIM:209900	IFT27	11020	HP:0008734	Decreased testicular size
OMIM:209900	IFT27	11020	HP:0000148	Vaginal atresia
OMIM:209900	IFT27	11020	HP:0001263	Global developmental delay
OMIM:209900	IFT27	11020	HP:0000518	Cataract
OMIM:209900	IFT27	11020	HP:0000077	Abnormality of the kidney
OMIM:209900	IFT27	11020	HP:0000546	Retinal degeneration
OMIM:209900	IFT27	11020	HP:0002251	Aganglionic megacolon
OMIM:209900	IFT27	11020	HP:0009466	Radial deviation of finger
OMIM:209900	IFT27	11020	HP:0000054	Micropenis
OMIM:209900	IFT27	11020	HP:0000819	Diabetes mellitus
OMIM:209900	IFT27	11020	HP:0000501	Glaucoma
OMIM:209900	IFT27	11020	HP:0001249	Intellectual disability
OMIM:209900	IFT27	11020	HP:0000137	Abnormality of the ovary
OMIM:209900	IFT27	11020	HP:0000486	Strabismus
OMIM:209900	IFT27	11020	HP:0000750	Delayed speech and language development
OMIM:209900	IFT27	11020	HP:0001080	Biliary tract abnormality
OMIM:209900	IFT27	11020	HP:0001007	Hirsutism
OMIM:209900	IFT27	11020	HP:0001513	Obesity
OMIM:209900	IFT27	11020	HP:0002141	Gait imbalance
OMIM:209900	IFT27	11020	HP:0000545	Myopia
OMIM:209900	IFT27	11020	HP:0000218	High palate
OMIM:209900	IFT27	11020	HP:0000007	Autosomal recessive inheritance
OMIM:209900	IFT27	11020	HP:0000639	Nystagmus
OMIM:209900	IFT27	11020	HP:0001251	Ataxia
OMIM:209900	IFT172	26160	HP:0000678	Dental crowding
OMIM:209900	IFT172	26160	HP:0001162	Postaxial hand polydactyly
OMIM:209900	IFT172	26160	HP:0002167	Neurological speech impairment
OMIM:209900	IFT172	26160	HP:0001773	Short foot
OMIM:209900	IFT172	26160	HP:0000365	Hearing impairment
OMIM:209900	IFT172	26160	HP:0001159	Syndactyly
OMIM:209900	IFT172	26160	HP:0000483	Astigmatism
OMIM:209900	IFT172	26160	HP:0002370	Poor coordination
OMIM:209900	IFT172	26160	HP:0001829	Foot polydactyly
OMIM:209900	IFT172	26160	HP:0000256	Macrocephaly
OMIM:209900	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:209900	IFT172	26160	HP:0000668	Hypodontia
OMIM:209900	IFT172	26160	HP:0001395	Hepatic fibrosis
OMIM:209900	IFT172	26160	HP:0002099	Asthma
OMIM:209900	IFT172	26160	HP:0001328	Specific learning disability
OMIM:209900	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:209900	IFT172	26160	HP:0000822	Hypertension
OMIM:209900	IFT172	26160	HP:0000135	Hypogonadism
OMIM:209900	IFT172	26160	HP:0001712	Left ventricular hypertrophy
OMIM:209900	IFT172	26160	HP:0008734	Decreased testicular size
OMIM:209900	IFT172	26160	HP:0000148	Vaginal atresia
OMIM:209900	IFT172	26160	HP:0001263	Global developmental delay
OMIM:209900	IFT172	26160	HP:0000518	Cataract
OMIM:209900	IFT172	26160	HP:0000077	Abnormality of the kidney
OMIM:209900	IFT172	26160	HP:0000546	Retinal degeneration
OMIM:209900	IFT172	26160	HP:0002251	Aganglionic megacolon
OMIM:209900	IFT172	26160	HP:0009466	Radial deviation of finger
OMIM:209900	IFT172	26160	HP:0000054	Micropenis
OMIM:209900	IFT172	26160	HP:0000819	Diabetes mellitus
OMIM:209900	IFT172	26160	HP:0000501	Glaucoma
OMIM:209900	IFT172	26160	HP:0001249	Intellectual disability
OMIM:209900	IFT172	26160	HP:0000137	Abnormality of the ovary
OMIM:209900	IFT172	26160	HP:0000486	Strabismus
OMIM:209900	IFT172	26160	HP:0000750	Delayed speech and language development
OMIM:209900	IFT172	26160	HP:0001080	Biliary tract abnormality
OMIM:209900	IFT172	26160	HP:0001007	Hirsutism
OMIM:209900	IFT172	26160	HP:0001513	Obesity
OMIM:209900	IFT172	26160	HP:0002141	Gait imbalance
OMIM:209900	IFT172	26160	HP:0000545	Myopia
OMIM:209900	IFT172	26160	HP:0000218	High palate
OMIM:209900	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:209900	IFT172	26160	HP:0000639	Nystagmus
OMIM:209900	IFT172	26160	HP:0001251	Ataxia
OMIM:209900	WDPCP	51057	HP:0000678	Dental crowding
OMIM:209900	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
OMIM:209900	WDPCP	51057	HP:0002167	Neurological speech impairment
OMIM:209900	WDPCP	51057	HP:0001773	Short foot
OMIM:209900	WDPCP	51057	HP:0000365	Hearing impairment
OMIM:209900	WDPCP	51057	HP:0001159	Syndactyly
OMIM:209900	WDPCP	51057	HP:0000483	Astigmatism
OMIM:209900	WDPCP	51057	HP:0002370	Poor coordination
OMIM:209900	WDPCP	51057	HP:0001829	Foot polydactyly
OMIM:209900	WDPCP	51057	HP:0000256	Macrocephaly
OMIM:209900	WDPCP	51057	HP:0001156	Brachydactyly syndrome
OMIM:209900	WDPCP	51057	HP:0000668	Hypodontia
OMIM:209900	WDPCP	51057	HP:0001395	Hepatic fibrosis
OMIM:209900	WDPCP	51057	HP:0002099	Asthma
OMIM:209900	WDPCP	51057	HP:0001328	Specific learning disability
OMIM:209900	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:209900	WDPCP	51057	HP:0000822	Hypertension
OMIM:209900	WDPCP	51057	HP:0000135	Hypogonadism
OMIM:209900	WDPCP	51057	HP:0001712	Left ventricular hypertrophy
OMIM:209900	WDPCP	51057	HP:0008734	Decreased testicular size
OMIM:209900	WDPCP	51057	HP:0000148	Vaginal atresia
OMIM:209900	WDPCP	51057	HP:0001263	Global developmental delay
OMIM:209900	WDPCP	51057	HP:0000518	Cataract
OMIM:209900	WDPCP	51057	HP:0000077	Abnormality of the kidney
OMIM:209900	WDPCP	51057	HP:0000546	Retinal degeneration
OMIM:209900	WDPCP	51057	HP:0002251	Aganglionic megacolon
OMIM:209900	WDPCP	51057	HP:0009466	Radial deviation of finger
OMIM:209900	WDPCP	51057	HP:0000054	Micropenis
OMIM:209900	WDPCP	51057	HP:0000819	Diabetes mellitus
OMIM:209900	WDPCP	51057	HP:0000501	Glaucoma
OMIM:209900	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:209900	WDPCP	51057	HP:0000137	Abnormality of the ovary
OMIM:209900	WDPCP	51057	HP:0000486	Strabismus
OMIM:209900	WDPCP	51057	HP:0000750	Delayed speech and language development
OMIM:209900	WDPCP	51057	HP:0001080	Biliary tract abnormality
OMIM:209900	WDPCP	51057	HP:0001007	Hirsutism
OMIM:209900	WDPCP	51057	HP:0001513	Obesity
OMIM:209900	WDPCP	51057	HP:0002141	Gait imbalance
OMIM:209900	WDPCP	51057	HP:0000545	Myopia
OMIM:209900	WDPCP	51057	HP:0000218	High palate
OMIM:209900	WDPCP	51057	HP:0000007	Autosomal recessive inheritance
OMIM:209900	WDPCP	51057	HP:0000639	Nystagmus
OMIM:209900	WDPCP	51057	HP:0001251	Ataxia
OMIM:209900	SDCCAG8	10806	HP:0000678	Dental crowding
OMIM:209900	SDCCAG8	10806	HP:0001162	Postaxial hand polydactyly
OMIM:209900	SDCCAG8	10806	HP:0002167	Neurological speech impairment
OMIM:209900	SDCCAG8	10806	HP:0001773	Short foot
OMIM:209900	SDCCAG8	10806	HP:0000365	Hearing impairment
OMIM:209900	SDCCAG8	10806	HP:0001159	Syndactyly
OMIM:209900	SDCCAG8	10806	HP:0000483	Astigmatism
OMIM:209900	SDCCAG8	10806	HP:0002370	Poor coordination
OMIM:209900	SDCCAG8	10806	HP:0001829	Foot polydactyly
OMIM:209900	SDCCAG8	10806	HP:0000256	Macrocephaly
OMIM:209900	SDCCAG8	10806	HP:0001156	Brachydactyly syndrome
OMIM:209900	SDCCAG8	10806	HP:0000668	Hypodontia
OMIM:209900	SDCCAG8	10806	HP:0001395	Hepatic fibrosis
OMIM:209900	SDCCAG8	10806	HP:0002099	Asthma
OMIM:209900	SDCCAG8	10806	HP:0001328	Specific learning disability
OMIM:209900	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:209900	SDCCAG8	10806	HP:0000822	Hypertension
OMIM:209900	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:209900	SDCCAG8	10806	HP:0001712	Left ventricular hypertrophy
OMIM:209900	SDCCAG8	10806	HP:0008734	Decreased testicular size
OMIM:209900	SDCCAG8	10806	HP:0000148	Vaginal atresia
OMIM:209900	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:209900	SDCCAG8	10806	HP:0000518	Cataract
OMIM:209900	SDCCAG8	10806	HP:0000077	Abnormality of the kidney
OMIM:209900	SDCCAG8	10806	HP:0000546	Retinal degeneration
OMIM:209900	SDCCAG8	10806	HP:0002251	Aganglionic megacolon
OMIM:209900	SDCCAG8	10806	HP:0009466	Radial deviation of finger
OMIM:209900	SDCCAG8	10806	HP:0000054	Micropenis
OMIM:209900	SDCCAG8	10806	HP:0000819	Diabetes mellitus
OMIM:209900	SDCCAG8	10806	HP:0000501	Glaucoma
OMIM:209900	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:209900	SDCCAG8	10806	HP:0000137	Abnormality of the ovary
OMIM:209900	SDCCAG8	10806	HP:0000486	Strabismus
OMIM:209900	SDCCAG8	10806	HP:0000750	Delayed speech and language development
OMIM:209900	SDCCAG8	10806	HP:0001080	Biliary tract abnormality
OMIM:209900	SDCCAG8	10806	HP:0001007	Hirsutism
OMIM:209900	SDCCAG8	10806	HP:0001513	Obesity
OMIM:209900	SDCCAG8	10806	HP:0002141	Gait imbalance
OMIM:209900	SDCCAG8	10806	HP:0000545	Myopia
OMIM:209900	SDCCAG8	10806	HP:0000218	High palate
OMIM:209900	SDCCAG8	10806	HP:0000007	Autosomal recessive inheritance
OMIM:209900	SDCCAG8	10806	HP:0000639	Nystagmus
OMIM:209900	SDCCAG8	10806	HP:0001251	Ataxia
OMIM:209900	MKS1	54903	HP:0000678	Dental crowding
OMIM:209900	MKS1	54903	HP:0001162	Postaxial hand polydactyly
OMIM:209900	MKS1	54903	HP:0002167	Neurological speech impairment
OMIM:209900	MKS1	54903	HP:0001773	Short foot
OMIM:209900	MKS1	54903	HP:0000365	Hearing impairment
OMIM:209900	MKS1	54903	HP:0001159	Syndactyly
OMIM:209900	MKS1	54903	HP:0000483	Astigmatism
OMIM:209900	MKS1	54903	HP:0002370	Poor coordination
OMIM:209900	MKS1	54903	HP:0001829	Foot polydactyly
OMIM:209900	MKS1	54903	HP:0000256	Macrocephaly
OMIM:209900	MKS1	54903	HP:0001156	Brachydactyly syndrome
OMIM:209900	MKS1	54903	HP:0000668	Hypodontia
OMIM:209900	MKS1	54903	HP:0001395	Hepatic fibrosis
OMIM:209900	MKS1	54903	HP:0002099	Asthma
OMIM:209900	MKS1	54903	HP:0001328	Specific learning disability
OMIM:209900	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:209900	MKS1	54903	HP:0000822	Hypertension
OMIM:209900	MKS1	54903	HP:0000135	Hypogonadism
OMIM:209900	MKS1	54903	HP:0001712	Left ventricular hypertrophy
OMIM:209900	MKS1	54903	HP:0008734	Decreased testicular size
OMIM:209900	MKS1	54903	HP:0000148	Vaginal atresia
OMIM:209900	MKS1	54903	HP:0001263	Global developmental delay
OMIM:209900	MKS1	54903	HP:0000518	Cataract
OMIM:209900	MKS1	54903	HP:0000077	Abnormality of the kidney
OMIM:209900	MKS1	54903	HP:0000546	Retinal degeneration
OMIM:209900	MKS1	54903	HP:0002251	Aganglionic megacolon
OMIM:209900	MKS1	54903	HP:0009466	Radial deviation of finger
OMIM:209900	MKS1	54903	HP:0000054	Micropenis
OMIM:209900	MKS1	54903	HP:0000819	Diabetes mellitus
OMIM:209900	MKS1	54903	HP:0000501	Glaucoma
OMIM:209900	MKS1	54903	HP:0001249	Intellectual disability
OMIM:209900	MKS1	54903	HP:0000137	Abnormality of the ovary
OMIM:209900	MKS1	54903	HP:0000486	Strabismus
OMIM:209900	MKS1	54903	HP:0000750	Delayed speech and language development
OMIM:209900	MKS1	54903	HP:0001080	Biliary tract abnormality
OMIM:209900	MKS1	54903	HP:0001007	Hirsutism
OMIM:209900	MKS1	54903	HP:0001513	Obesity
OMIM:209900	MKS1	54903	HP:0002141	Gait imbalance
OMIM:209900	MKS1	54903	HP:0000545	Myopia
OMIM:209900	MKS1	54903	HP:0000218	High palate
OMIM:209900	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:209900	MKS1	54903	HP:0000639	Nystagmus
OMIM:209900	MKS1	54903	HP:0001251	Ataxia
OMIM:209900	BBS5	129880	HP:0000678	Dental crowding
OMIM:209900	BBS5	129880	HP:0001162	Postaxial hand polydactyly
OMIM:209900	BBS5	129880	HP:0002167	Neurological speech impairment
OMIM:209900	BBS5	129880	HP:0001773	Short foot
OMIM:209900	BBS5	129880	HP:0000365	Hearing impairment
OMIM:209900	BBS5	129880	HP:0001159	Syndactyly
OMIM:209900	BBS5	129880	HP:0000483	Astigmatism
OMIM:209900	BBS5	129880	HP:0002370	Poor coordination
OMIM:209900	BBS5	129880	HP:0001829	Foot polydactyly
OMIM:209900	BBS5	129880	HP:0000256	Macrocephaly
OMIM:209900	BBS5	129880	HP:0001156	Brachydactyly syndrome
OMIM:209900	BBS5	129880	HP:0000668	Hypodontia
OMIM:209900	BBS5	129880	HP:0001395	Hepatic fibrosis
OMIM:209900	BBS5	129880	HP:0002099	Asthma
OMIM:209900	BBS5	129880	HP:0001328	Specific learning disability
OMIM:209900	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:209900	BBS5	129880	HP:0000822	Hypertension
OMIM:209900	BBS5	129880	HP:0000135	Hypogonadism
OMIM:209900	BBS5	129880	HP:0001712	Left ventricular hypertrophy
OMIM:209900	BBS5	129880	HP:0008734	Decreased testicular size
OMIM:209900	BBS5	129880	HP:0000148	Vaginal atresia
OMIM:209900	BBS5	129880	HP:0001263	Global developmental delay
OMIM:209900	BBS5	129880	HP:0000518	Cataract
OMIM:209900	BBS5	129880	HP:0000077	Abnormality of the kidney
OMIM:209900	BBS5	129880	HP:0000546	Retinal degeneration
OMIM:209900	BBS5	129880	HP:0002251	Aganglionic megacolon
OMIM:209900	BBS5	129880	HP:0009466	Radial deviation of finger
OMIM:209900	BBS5	129880	HP:0000054	Micropenis
OMIM:209900	BBS5	129880	HP:0000819	Diabetes mellitus
OMIM:209900	BBS5	129880	HP:0000501	Glaucoma
OMIM:209900	BBS5	129880	HP:0001249	Intellectual disability
OMIM:209900	BBS5	129880	HP:0000137	Abnormality of the ovary
OMIM:209900	BBS5	129880	HP:0000486	Strabismus
OMIM:209900	BBS5	129880	HP:0000750	Delayed speech and language development
OMIM:209900	BBS5	129880	HP:0001080	Biliary tract abnormality
OMIM:209900	BBS5	129880	HP:0001007	Hirsutism
OMIM:209900	BBS5	129880	HP:0001513	Obesity
OMIM:209900	BBS5	129880	HP:0002141	Gait imbalance
OMIM:209900	BBS5	129880	HP:0000545	Myopia
OMIM:209900	BBS5	129880	HP:0000218	High palate
OMIM:209900	BBS5	129880	HP:0000007	Autosomal recessive inheritance
OMIM:209900	BBS5	129880	HP:0000639	Nystagmus
OMIM:209900	BBS5	129880	HP:0001251	Ataxia
OMIM:209900	CEP290	80184	HP:0000678	Dental crowding
OMIM:209900	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:209900	CEP290	80184	HP:0002167	Neurological speech impairment
OMIM:209900	CEP290	80184	HP:0001773	Short foot
OMIM:209900	CEP290	80184	HP:0000365	Hearing impairment
OMIM:209900	CEP290	80184	HP:0001159	Syndactyly
OMIM:209900	CEP290	80184	HP:0000483	Astigmatism
OMIM:209900	CEP290	80184	HP:0002370	Poor coordination
OMIM:209900	CEP290	80184	HP:0001829	Foot polydactyly
OMIM:209900	CEP290	80184	HP:0000256	Macrocephaly
OMIM:209900	CEP290	80184	HP:0001156	Brachydactyly syndrome
OMIM:209900	CEP290	80184	HP:0000668	Hypodontia
OMIM:209900	CEP290	80184	HP:0001395	Hepatic fibrosis
OMIM:209900	CEP290	80184	HP:0002099	Asthma
OMIM:209900	CEP290	80184	HP:0001328	Specific learning disability
OMIM:209900	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:209900	CEP290	80184	HP:0000822	Hypertension
OMIM:209900	CEP290	80184	HP:0000135	Hypogonadism
OMIM:209900	CEP290	80184	HP:0001712	Left ventricular hypertrophy
OMIM:209900	CEP290	80184	HP:0008734	Decreased testicular size
OMIM:209900	CEP290	80184	HP:0000148	Vaginal atresia
OMIM:209900	CEP290	80184	HP:0001263	Global developmental delay
OMIM:209900	CEP290	80184	HP:0000518	Cataract
OMIM:209900	CEP290	80184	HP:0000077	Abnormality of the kidney
OMIM:209900	CEP290	80184	HP:0000546	Retinal degeneration
OMIM:209900	CEP290	80184	HP:0002251	Aganglionic megacolon
OMIM:209900	CEP290	80184	HP:0009466	Radial deviation of finger
OMIM:209900	CEP290	80184	HP:0000054	Micropenis
OMIM:209900	CEP290	80184	HP:0000819	Diabetes mellitus
OMIM:209900	CEP290	80184	HP:0000501	Glaucoma
OMIM:209900	CEP290	80184	HP:0001249	Intellectual disability
OMIM:209900	CEP290	80184	HP:0000137	Abnormality of the ovary
OMIM:209900	CEP290	80184	HP:0000486	Strabismus
OMIM:209900	CEP290	80184	HP:0000750	Delayed speech and language development
OMIM:209900	CEP290	80184	HP:0001080	Biliary tract abnormality
OMIM:209900	CEP290	80184	HP:0001007	Hirsutism
OMIM:209900	CEP290	80184	HP:0001513	Obesity
OMIM:209900	CEP290	80184	HP:0002141	Gait imbalance
OMIM:209900	CEP290	80184	HP:0000545	Myopia
OMIM:209900	CEP290	80184	HP:0000218	High palate
OMIM:209900	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:209900	CEP290	80184	HP:0000639	Nystagmus
OMIM:209900	CEP290	80184	HP:0001251	Ataxia
OMIM:209900	LZTFL1	54585	HP:0000678	Dental crowding
OMIM:209900	LZTFL1	54585	HP:0001162	Postaxial hand polydactyly
OMIM:209900	LZTFL1	54585	HP:0002167	Neurological speech impairment
OMIM:209900	LZTFL1	54585	HP:0001773	Short foot
OMIM:209900	LZTFL1	54585	HP:0000365	Hearing impairment
OMIM:209900	LZTFL1	54585	HP:0001159	Syndactyly
OMIM:209900	LZTFL1	54585	HP:0000483	Astigmatism
OMIM:209900	LZTFL1	54585	HP:0002370	Poor coordination
OMIM:209900	LZTFL1	54585	HP:0001829	Foot polydactyly
OMIM:209900	LZTFL1	54585	HP:0000256	Macrocephaly
OMIM:209900	LZTFL1	54585	HP:0001156	Brachydactyly syndrome
OMIM:209900	LZTFL1	54585	HP:0000668	Hypodontia
OMIM:209900	LZTFL1	54585	HP:0001395	Hepatic fibrosis
OMIM:209900	LZTFL1	54585	HP:0002099	Asthma
OMIM:209900	LZTFL1	54585	HP:0001328	Specific learning disability
OMIM:209900	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:209900	LZTFL1	54585	HP:0000822	Hypertension
OMIM:209900	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:209900	LZTFL1	54585	HP:0001712	Left ventricular hypertrophy
OMIM:209900	LZTFL1	54585	HP:0008734	Decreased testicular size
OMIM:209900	LZTFL1	54585	HP:0000148	Vaginal atresia
OMIM:209900	LZTFL1	54585	HP:0001263	Global developmental delay
OMIM:209900	LZTFL1	54585	HP:0000518	Cataract
OMIM:209900	LZTFL1	54585	HP:0000077	Abnormality of the kidney
OMIM:209900	LZTFL1	54585	HP:0000546	Retinal degeneration
OMIM:209900	LZTFL1	54585	HP:0002251	Aganglionic megacolon
OMIM:209900	LZTFL1	54585	HP:0009466	Radial deviation of finger
OMIM:209900	LZTFL1	54585	HP:0000054	Micropenis
OMIM:209900	LZTFL1	54585	HP:0000819	Diabetes mellitus
OMIM:209900	LZTFL1	54585	HP:0000501	Glaucoma
OMIM:209900	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:209900	LZTFL1	54585	HP:0000137	Abnormality of the ovary
OMIM:209900	LZTFL1	54585	HP:0000486	Strabismus
OMIM:209900	LZTFL1	54585	HP:0000750	Delayed speech and language development
OMIM:209900	LZTFL1	54585	HP:0001080	Biliary tract abnormality
OMIM:209900	LZTFL1	54585	HP:0001007	Hirsutism
OMIM:209900	LZTFL1	54585	HP:0001513	Obesity
OMIM:209900	LZTFL1	54585	HP:0002141	Gait imbalance
OMIM:209900	LZTFL1	54585	HP:0000545	Myopia
OMIM:209900	LZTFL1	54585	HP:0000218	High palate
OMIM:209900	LZTFL1	54585	HP:0000007	Autosomal recessive inheritance
OMIM:209900	LZTFL1	54585	HP:0000639	Nystagmus
OMIM:209900	LZTFL1	54585	HP:0001251	Ataxia
OMIM:209900	BBS10	79738	HP:0000678	Dental crowding
OMIM:209900	BBS10	79738	HP:0001162	Postaxial hand polydactyly
OMIM:209900	BBS10	79738	HP:0002167	Neurological speech impairment
OMIM:209900	BBS10	79738	HP:0001773	Short foot
OMIM:209900	BBS10	79738	HP:0000365	Hearing impairment
OMIM:209900	BBS10	79738	HP:0001159	Syndactyly
OMIM:209900	BBS10	79738	HP:0000483	Astigmatism
OMIM:209900	BBS10	79738	HP:0002370	Poor coordination
OMIM:209900	BBS10	79738	HP:0001829	Foot polydactyly
OMIM:209900	BBS10	79738	HP:0000256	Macrocephaly
OMIM:209900	BBS10	79738	HP:0001156	Brachydactyly syndrome
OMIM:209900	BBS10	79738	HP:0000668	Hypodontia
OMIM:209900	BBS10	79738	HP:0001395	Hepatic fibrosis
OMIM:209900	BBS10	79738	HP:0002099	Asthma
OMIM:209900	BBS10	79738	HP:0001328	Specific learning disability
OMIM:209900	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:209900	BBS10	79738	HP:0000822	Hypertension
OMIM:209900	BBS10	79738	HP:0000135	Hypogonadism
OMIM:209900	BBS10	79738	HP:0001712	Left ventricular hypertrophy
OMIM:209900	BBS10	79738	HP:0008734	Decreased testicular size
OMIM:209900	BBS10	79738	HP:0000148	Vaginal atresia
OMIM:209900	BBS10	79738	HP:0001263	Global developmental delay
OMIM:209900	BBS10	79738	HP:0000518	Cataract
OMIM:209900	BBS10	79738	HP:0000077	Abnormality of the kidney
OMIM:209900	BBS10	79738	HP:0000546	Retinal degeneration
OMIM:209900	BBS10	79738	HP:0002251	Aganglionic megacolon
OMIM:209900	BBS10	79738	HP:0009466	Radial deviation of finger
OMIM:209900	BBS10	79738	HP:0000054	Micropenis
OMIM:209900	BBS10	79738	HP:0000819	Diabetes mellitus
OMIM:209900	BBS10	79738	HP:0000501	Glaucoma
OMIM:209900	BBS10	79738	HP:0001249	Intellectual disability
OMIM:209900	BBS10	79738	HP:0000137	Abnormality of the ovary
OMIM:209900	BBS10	79738	HP:0000486	Strabismus
OMIM:209900	BBS10	79738	HP:0000750	Delayed speech and language development
OMIM:209900	BBS10	79738	HP:0001080	Biliary tract abnormality
OMIM:209900	BBS10	79738	HP:0001007	Hirsutism
OMIM:209900	BBS10	79738	HP:0001513	Obesity
OMIM:209900	BBS10	79738	HP:0002141	Gait imbalance
OMIM:209900	BBS10	79738	HP:0000545	Myopia
OMIM:209900	BBS10	79738	HP:0000218	High palate
OMIM:209900	BBS10	79738	HP:0000007	Autosomal recessive inheritance
OMIM:209900	BBS10	79738	HP:0000639	Nystagmus
OMIM:209900	BBS10	79738	HP:0001251	Ataxia
OMIM:614456	MITF	4286	HP:0000006	Autosomal dominant inheritance
OMIM:614456	MITF	4286	HP:0012056	Cutaneous melanoma
OMIM:610131	POLG2	11232	HP:0000006	Autosomal dominant inheritance
OMIM:610131	POLG2	11232	HP:0010628	Facial palsy
OMIM:610131	POLG2	11232	HP:0001263	Global developmental delay
OMIM:610131	POLG2	11232	HP:0002019	Constipation
OMIM:610131	POLG2	11232	HP:0011675	Arrhythmia
OMIM:610131	POLG2	11232	HP:0003676	Progressive
OMIM:610131	POLG2	11232	HP:0002151	Increased serum lactate
OMIM:610131	POLG2	11232	HP:0001250	Seizures
OMIM:610131	POLG2	11232	HP:0002910	Elevated hepatic transaminases
OMIM:610131	POLG2	11232	HP:0003581	Adult onset
OMIM:610131	POLG2	11232	HP:0003326	Myalgia
OMIM:610131	POLG2	11232	HP:0000508	Ptosis
OMIM:610131	POLG2	11232	HP:0001508	Failure to thrive
OMIM:610131	POLG2	11232	HP:0003690	Limb muscle weakness
OMIM:610131	POLG2	11232	HP:0000833	Glucose intolerance
OMIM:610131	POLG2	11232	HP:0001272	Cerebellar atrophy
OMIM:610131	POLG2	11232	HP:0003546	Exercise intolerance
OMIM:610131	POLG2	11232	HP:0003828	Variable expressivity
OMIM:610131	POLG2	11232	HP:0001252	Muscular hypotonia
OMIM:610131	POLG2	11232	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610131	POLG2	11232	HP:0100704	Cortical visual impairment
OMIM:610131	POLG2	11232	HP:0002020	Gastroesophageal reflux
OMIM:610131	SLC25A4	291	HP:0000006	Autosomal dominant inheritance
OMIM:610131	SLC25A4	291	HP:0010628	Facial palsy
OMIM:610131	SLC25A4	291	HP:0001263	Global developmental delay
OMIM:610131	SLC25A4	291	HP:0002019	Constipation
OMIM:610131	SLC25A4	291	HP:0011675	Arrhythmia
OMIM:610131	SLC25A4	291	HP:0003676	Progressive
OMIM:610131	SLC25A4	291	HP:0002151	Increased serum lactate
OMIM:610131	SLC25A4	291	HP:0001250	Seizures
OMIM:610131	SLC25A4	291	HP:0002910	Elevated hepatic transaminases
OMIM:610131	SLC25A4	291	HP:0003581	Adult onset
OMIM:610131	SLC25A4	291	HP:0003326	Myalgia
OMIM:610131	SLC25A4	291	HP:0000508	Ptosis
OMIM:610131	SLC25A4	291	HP:0001508	Failure to thrive
OMIM:610131	SLC25A4	291	HP:0003690	Limb muscle weakness
OMIM:610131	SLC25A4	291	HP:0000833	Glucose intolerance
OMIM:610131	SLC25A4	291	HP:0001272	Cerebellar atrophy
OMIM:610131	SLC25A4	291	HP:0003546	Exercise intolerance
OMIM:610131	SLC25A4	291	HP:0003828	Variable expressivity
OMIM:610131	SLC25A4	291	HP:0001252	Muscular hypotonia
OMIM:610131	SLC25A4	291	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610131	SLC25A4	291	HP:0100704	Cortical visual impairment
OMIM:610131	SLC25A4	291	HP:0002020	Gastroesophageal reflux
OMIM:610131	POLG	5428	HP:0000006	Autosomal dominant inheritance
OMIM:610131	POLG	5428	HP:0010628	Facial palsy
OMIM:610131	POLG	5428	HP:0001263	Global developmental delay
OMIM:610131	POLG	5428	HP:0002019	Constipation
OMIM:610131	POLG	5428	HP:0011675	Arrhythmia
OMIM:610131	POLG	5428	HP:0003676	Progressive
OMIM:610131	POLG	5428	HP:0002151	Increased serum lactate
OMIM:610131	POLG	5428	HP:0001250	Seizures
OMIM:610131	POLG	5428	HP:0002910	Elevated hepatic transaminases
OMIM:610131	POLG	5428	HP:0003581	Adult onset
OMIM:610131	POLG	5428	HP:0003326	Myalgia
OMIM:610131	POLG	5428	HP:0000508	Ptosis
OMIM:610131	POLG	5428	HP:0001508	Failure to thrive
OMIM:610131	POLG	5428	HP:0003690	Limb muscle weakness
OMIM:610131	POLG	5428	HP:0000833	Glucose intolerance
OMIM:610131	POLG	5428	HP:0001272	Cerebellar atrophy
OMIM:610131	POLG	5428	HP:0003546	Exercise intolerance
OMIM:610131	POLG	5428	HP:0003828	Variable expressivity
OMIM:610131	POLG	5428	HP:0001252	Muscular hypotonia
OMIM:610131	POLG	5428	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610131	POLG	5428	HP:0100704	Cortical visual impairment
OMIM:610131	POLG	5428	HP:0002020	Gastroesophageal reflux
OMIM:610131	RRM2B	50484	HP:0000006	Autosomal dominant inheritance
OMIM:610131	RRM2B	50484	HP:0010628	Facial palsy
OMIM:610131	RRM2B	50484	HP:0001263	Global developmental delay
OMIM:610131	RRM2B	50484	HP:0002019	Constipation
OMIM:610131	RRM2B	50484	HP:0011675	Arrhythmia
OMIM:610131	RRM2B	50484	HP:0003676	Progressive
OMIM:610131	RRM2B	50484	HP:0002151	Increased serum lactate
OMIM:610131	RRM2B	50484	HP:0001250	Seizures
OMIM:610131	RRM2B	50484	HP:0002910	Elevated hepatic transaminases
OMIM:610131	RRM2B	50484	HP:0003581	Adult onset
OMIM:610131	RRM2B	50484	HP:0003326	Myalgia
OMIM:610131	RRM2B	50484	HP:0000508	Ptosis
OMIM:610131	RRM2B	50484	HP:0001508	Failure to thrive
OMIM:610131	RRM2B	50484	HP:0003690	Limb muscle weakness
OMIM:610131	RRM2B	50484	HP:0000833	Glucose intolerance
OMIM:610131	RRM2B	50484	HP:0001272	Cerebellar atrophy
OMIM:610131	RRM2B	50484	HP:0003546	Exercise intolerance
OMIM:610131	RRM2B	50484	HP:0003828	Variable expressivity
OMIM:610131	RRM2B	50484	HP:0001252	Muscular hypotonia
OMIM:610131	RRM2B	50484	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610131	RRM2B	50484	HP:0100704	Cortical visual impairment
OMIM:610131	RRM2B	50484	HP:0002020	Gastroesophageal reflux
OMIM:610131	C10ORF2	56652	HP:0000006	Autosomal dominant inheritance
OMIM:610131	C10ORF2	56652	HP:0010628	Facial palsy
OMIM:610131	C10ORF2	56652	HP:0001263	Global developmental delay
OMIM:610131	C10ORF2	56652	HP:0002019	Constipation
OMIM:610131	C10ORF2	56652	HP:0011675	Arrhythmia
OMIM:610131	C10ORF2	56652	HP:0003676	Progressive
OMIM:610131	C10ORF2	56652	HP:0002151	Increased serum lactate
OMIM:610131	C10ORF2	56652	HP:0001250	Seizures
OMIM:610131	C10ORF2	56652	HP:0002910	Elevated hepatic transaminases
OMIM:610131	C10ORF2	56652	HP:0003581	Adult onset
OMIM:610131	C10ORF2	56652	HP:0003326	Myalgia
OMIM:610131	C10ORF2	56652	HP:0000508	Ptosis
OMIM:610131	C10ORF2	56652	HP:0001508	Failure to thrive
OMIM:610131	C10ORF2	56652	HP:0003690	Limb muscle weakness
OMIM:610131	C10ORF2	56652	HP:0000833	Glucose intolerance
OMIM:610131	C10ORF2	56652	HP:0001272	Cerebellar atrophy
OMIM:610131	C10ORF2	56652	HP:0003546	Exercise intolerance
OMIM:610131	C10ORF2	56652	HP:0003828	Variable expressivity
OMIM:610131	C10ORF2	56652	HP:0001252	Muscular hypotonia
OMIM:610131	C10ORF2	56652	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610131	C10ORF2	56652	HP:0100704	Cortical visual impairment
OMIM:610131	C10ORF2	56652	HP:0002020	Gastroesophageal reflux
OMIM:604536	PKP1	5317	HP:0000534	Abnormality of the eyebrow
OMIM:604536	PKP1	5317	HP:0000968	Ectodermal dysplasia
OMIM:604536	PKP1	5317	HP:0001030	Fragile skin
OMIM:604536	PKP1	5317	HP:0002024	Malabsorption
OMIM:604536	PKP1	5317	HP:0000982	Palmoplantar keratoderma
OMIM:604536	PKP1	5317	HP:0001596	Alopecia
OMIM:604536	PKP1	5317	HP:0000989	Pruritus
OMIM:604536	PKP1	5317	HP:0001597	Abnormality of the nail
OMIM:604536	PKP1	5317	HP:0000498	Blepharitis
OMIM:604536	PKP1	5317	HP:0000958	Dry skin
OMIM:604536	PKP1	5317	HP:0002224	Woolly hair
OMIM:604536	PKP1	5317	HP:0200042	Skin ulcer
OMIM:600624	AIPL1	23746	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	AIPL1	23746	HP:0003621	Juvenile onset
OMIM:600624	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	AIPL1	23746	HP:0000135	Hypogonadism
OMIM:600624	AIPL1	23746	HP:0000598	Abnormality of the ear
OMIM:600624	AIPL1	23746	HP:0001249	Intellectual disability
OMIM:600624	AIPL1	23746	HP:0011463	Childhood onset
OMIM:600624	AIPL1	23746	HP:0000006	Autosomal dominant inheritance
OMIM:600624	PITPNM3	83394	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	PITPNM3	83394	HP:0003621	Juvenile onset
OMIM:600624	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	PITPNM3	83394	HP:0000135	Hypogonadism
OMIM:600624	PITPNM3	83394	HP:0000598	Abnormality of the ear
OMIM:600624	PITPNM3	83394	HP:0001249	Intellectual disability
OMIM:600624	PITPNM3	83394	HP:0011463	Childhood onset
OMIM:600624	PITPNM3	83394	HP:0000006	Autosomal dominant inheritance
OMIM:600624	OPN1LW	5956	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	OPN1LW	5956	HP:0003621	Juvenile onset
OMIM:600624	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	OPN1LW	5956	HP:0000135	Hypogonadism
OMIM:600624	OPN1LW	5956	HP:0000598	Abnormality of the ear
OMIM:600624	OPN1LW	5956	HP:0001249	Intellectual disability
OMIM:600624	OPN1LW	5956	HP:0011463	Childhood onset
OMIM:600624	OPN1LW	5956	HP:0000006	Autosomal dominant inheritance
OMIM:600624	UNC119	9094	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	UNC119	9094	HP:0003621	Juvenile onset
OMIM:600624	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	UNC119	9094	HP:0000135	Hypogonadism
OMIM:600624	UNC119	9094	HP:0000598	Abnormality of the ear
OMIM:600624	UNC119	9094	HP:0001249	Intellectual disability
OMIM:600624	UNC119	9094	HP:0011463	Childhood onset
OMIM:600624	UNC119	9094	HP:0000006	Autosomal dominant inheritance
OMIM:600624	RPGRIP1	57096	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	RPGRIP1	57096	HP:0003621	Juvenile onset
OMIM:600624	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	RPGRIP1	57096	HP:0000135	Hypogonadism
OMIM:600624	RPGRIP1	57096	HP:0000598	Abnormality of the ear
OMIM:600624	RPGRIP1	57096	HP:0001249	Intellectual disability
OMIM:600624	RPGRIP1	57096	HP:0011463	Childhood onset
OMIM:600624	RPGRIP1	57096	HP:0000006	Autosomal dominant inheritance
OMIM:600624	PRPH2	5961	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	PRPH2	5961	HP:0003621	Juvenile onset
OMIM:600624	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	PRPH2	5961	HP:0000135	Hypogonadism
OMIM:600624	PRPH2	5961	HP:0000598	Abnormality of the ear
OMIM:600624	PRPH2	5961	HP:0001249	Intellectual disability
OMIM:600624	PRPH2	5961	HP:0011463	Childhood onset
OMIM:600624	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:600624	CACNA1F	778	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	CACNA1F	778	HP:0003621	Juvenile onset
OMIM:600624	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	CACNA1F	778	HP:0000135	Hypogonadism
OMIM:600624	CACNA1F	778	HP:0000598	Abnormality of the ear
OMIM:600624	CACNA1F	778	HP:0001249	Intellectual disability
OMIM:600624	CACNA1F	778	HP:0011463	Childhood onset
OMIM:600624	CACNA1F	778	HP:0000006	Autosomal dominant inheritance
OMIM:600624	PROM1	8842	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	PROM1	8842	HP:0003621	Juvenile onset
OMIM:600624	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	PROM1	8842	HP:0000135	Hypogonadism
OMIM:600624	PROM1	8842	HP:0000598	Abnormality of the ear
OMIM:600624	PROM1	8842	HP:0001249	Intellectual disability
OMIM:600624	PROM1	8842	HP:0011463	Childhood onset
OMIM:600624	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:600624	DRAM2	128338	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	DRAM2	128338	HP:0003621	Juvenile onset
OMIM:600624	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	DRAM2	128338	HP:0000135	Hypogonadism
OMIM:600624	DRAM2	128338	HP:0000598	Abnormality of the ear
OMIM:600624	DRAM2	128338	HP:0001249	Intellectual disability
OMIM:600624	DRAM2	128338	HP:0011463	Childhood onset
OMIM:600624	DRAM2	128338	HP:0000006	Autosomal dominant inheritance
OMIM:600624	CACNA2D4	93589	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	CACNA2D4	93589	HP:0003621	Juvenile onset
OMIM:600624	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	CACNA2D4	93589	HP:0000135	Hypogonadism
OMIM:600624	CACNA2D4	93589	HP:0000598	Abnormality of the ear
OMIM:600624	CACNA2D4	93589	HP:0001249	Intellectual disability
OMIM:600624	CACNA2D4	93589	HP:0011463	Childhood onset
OMIM:600624	CACNA2D4	93589	HP:0000006	Autosomal dominant inheritance
OMIM:600624	RAB28	9364	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	RAB28	9364	HP:0003621	Juvenile onset
OMIM:600624	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	RAB28	9364	HP:0000135	Hypogonadism
OMIM:600624	RAB28	9364	HP:0000598	Abnormality of the ear
OMIM:600624	RAB28	9364	HP:0001249	Intellectual disability
OMIM:600624	RAB28	9364	HP:0011463	Childhood onset
OMIM:600624	RAB28	9364	HP:0000006	Autosomal dominant inheritance
OMIM:600624	RIMS1	22999	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	RIMS1	22999	HP:0003621	Juvenile onset
OMIM:600624	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	RIMS1	22999	HP:0000135	Hypogonadism
OMIM:600624	RIMS1	22999	HP:0000598	Abnormality of the ear
OMIM:600624	RIMS1	22999	HP:0001249	Intellectual disability
OMIM:600624	RIMS1	22999	HP:0011463	Childhood onset
OMIM:600624	RIMS1	22999	HP:0000006	Autosomal dominant inheritance
OMIM:600624	RPGR	6103	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	RPGR	6103	HP:0003621	Juvenile onset
OMIM:600624	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	RPGR	6103	HP:0000135	Hypogonadism
OMIM:600624	RPGR	6103	HP:0000598	Abnormality of the ear
OMIM:600624	RPGR	6103	HP:0001249	Intellectual disability
OMIM:600624	RPGR	6103	HP:0011463	Childhood onset
OMIM:600624	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:600624	ABCA4	24	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	ABCA4	24	HP:0003621	Juvenile onset
OMIM:600624	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	ABCA4	24	HP:0000135	Hypogonadism
OMIM:600624	ABCA4	24	HP:0000598	Abnormality of the ear
OMIM:600624	ABCA4	24	HP:0001249	Intellectual disability
OMIM:600624	ABCA4	24	HP:0011463	Childhood onset
OMIM:600624	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:600624	SEMA4A	64218	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	SEMA4A	64218	HP:0003621	Juvenile onset
OMIM:600624	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	SEMA4A	64218	HP:0000135	Hypogonadism
OMIM:600624	SEMA4A	64218	HP:0000598	Abnormality of the ear
OMIM:600624	SEMA4A	64218	HP:0001249	Intellectual disability
OMIM:600624	SEMA4A	64218	HP:0011463	Childhood onset
OMIM:600624	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:600624	C8ORF37	157657	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	C8ORF37	157657	HP:0003621	Juvenile onset
OMIM:600624	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	C8ORF37	157657	HP:0000135	Hypogonadism
OMIM:600624	C8ORF37	157657	HP:0000598	Abnormality of the ear
OMIM:600624	C8ORF37	157657	HP:0001249	Intellectual disability
OMIM:600624	C8ORF37	157657	HP:0011463	Childhood onset
OMIM:600624	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:600624	OPN1MW	2652	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	OPN1MW	2652	HP:0003621	Juvenile onset
OMIM:600624	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	OPN1MW	2652	HP:0000135	Hypogonadism
OMIM:600624	OPN1MW	2652	HP:0000598	Abnormality of the ear
OMIM:600624	OPN1MW	2652	HP:0001249	Intellectual disability
OMIM:600624	OPN1MW	2652	HP:0011463	Childhood onset
OMIM:600624	OPN1MW	2652	HP:0000006	Autosomal dominant inheritance
OMIM:600624	GUCA1A	2978	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	GUCA1A	2978	HP:0003621	Juvenile onset
OMIM:600624	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	GUCA1A	2978	HP:0000135	Hypogonadism
OMIM:600624	GUCA1A	2978	HP:0000598	Abnormality of the ear
OMIM:600624	GUCA1A	2978	HP:0001249	Intellectual disability
OMIM:600624	GUCA1A	2978	HP:0011463	Childhood onset
OMIM:600624	GUCA1A	2978	HP:0000006	Autosomal dominant inheritance
OMIM:600624	RAX2	84839	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	RAX2	84839	HP:0003621	Juvenile onset
OMIM:600624	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	RAX2	84839	HP:0000135	Hypogonadism
OMIM:600624	RAX2	84839	HP:0000598	Abnormality of the ear
OMIM:600624	RAX2	84839	HP:0001249	Intellectual disability
OMIM:600624	RAX2	84839	HP:0011463	Childhood onset
OMIM:600624	RAX2	84839	HP:0000006	Autosomal dominant inheritance
OMIM:600624	CNGA3	1261	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	CNGA3	1261	HP:0003621	Juvenile onset
OMIM:600624	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	CNGA3	1261	HP:0000135	Hypogonadism
OMIM:600624	CNGA3	1261	HP:0000598	Abnormality of the ear
OMIM:600624	CNGA3	1261	HP:0001249	Intellectual disability
OMIM:600624	CNGA3	1261	HP:0011463	Childhood onset
OMIM:600624	CNGA3	1261	HP:0000006	Autosomal dominant inheritance
OMIM:600624	ADAM9	8754	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	ADAM9	8754	HP:0003621	Juvenile onset
OMIM:600624	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	ADAM9	8754	HP:0000135	Hypogonadism
OMIM:600624	ADAM9	8754	HP:0000598	Abnormality of the ear
OMIM:600624	ADAM9	8754	HP:0001249	Intellectual disability
OMIM:600624	ADAM9	8754	HP:0011463	Childhood onset
OMIM:600624	ADAM9	8754	HP:0000006	Autosomal dominant inheritance
OMIM:600624	CDHR1	92211	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	CDHR1	92211	HP:0003621	Juvenile onset
OMIM:600624	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	CDHR1	92211	HP:0000135	Hypogonadism
OMIM:600624	CDHR1	92211	HP:0000598	Abnormality of the ear
OMIM:600624	CDHR1	92211	HP:0001249	Intellectual disability
OMIM:600624	CDHR1	92211	HP:0011463	Childhood onset
OMIM:600624	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:600624	TTLL5	23093	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	TTLL5	23093	HP:0003621	Juvenile onset
OMIM:600624	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	TTLL5	23093	HP:0000135	Hypogonadism
OMIM:600624	TTLL5	23093	HP:0000598	Abnormality of the ear
OMIM:600624	TTLL5	23093	HP:0001249	Intellectual disability
OMIM:600624	TTLL5	23093	HP:0011463	Childhood onset
OMIM:600624	TTLL5	23093	HP:0000006	Autosomal dominant inheritance
OMIM:600624	GUCY2D	3000	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	GUCY2D	3000	HP:0003621	Juvenile onset
OMIM:600624	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	GUCY2D	3000	HP:0000135	Hypogonadism
OMIM:600624	GUCY2D	3000	HP:0000598	Abnormality of the ear
OMIM:600624	GUCY2D	3000	HP:0001249	Intellectual disability
OMIM:600624	GUCY2D	3000	HP:0011463	Childhood onset
OMIM:600624	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:600624	POC1B	282809	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	POC1B	282809	HP:0003621	Juvenile onset
OMIM:600624	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	POC1B	282809	HP:0000135	Hypogonadism
OMIM:600624	POC1B	282809	HP:0000598	Abnormality of the ear
OMIM:600624	POC1B	282809	HP:0001249	Intellectual disability
OMIM:600624	POC1B	282809	HP:0011463	Childhood onset
OMIM:600624	POC1B	282809	HP:0000006	Autosomal dominant inheritance
OMIM:600624	CRX	1406	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600624	CRX	1406	HP:0003621	Juvenile onset
OMIM:600624	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:600624	CRX	1406	HP:0000135	Hypogonadism
OMIM:600624	CRX	1406	HP:0000598	Abnormality of the ear
OMIM:600624	CRX	1406	HP:0001249	Intellectual disability
OMIM:600624	CRX	1406	HP:0011463	Childhood onset
OMIM:600624	CRX	1406	HP:0000006	Autosomal dominant inheritance
ORPHANET:189427	ARMC5	79798	HP:0000311	Round face
ORPHANET:189427	ARMC5	79798	HP:0000978	Bruising susceptibility
ORPHANET:189427	ARMC5	79798	HP:0000998	Hypertrichosis
ORPHANET:189427	ARMC5	79798	HP:0001956	Truncal obesity
ORPHANET:189427	ARMC5	79798	HP:0004349	Reduced bone mineral density
ORPHANET:189427	ARMC5	79798	HP:0000708	Behavioral abnormality
ORPHANET:189427	ARMC5	79798	HP:0000963	Thin skin
ORPHANET:189427	ARMC5	79798	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:189427	ARMC5	79798	HP:0001324	Muscle weakness
ORPHANET:189427	ARMC5	79798	HP:0000822	Hypertension
ORPHANET:189427	ARMC5	79798	HP:0001578	Hypercortisolism
ORPHANET:189427	ARMC5	79798	HP:0002858	Meningioma
ORPHANET:189427	ARMC5	79798	HP:0000787	Nephrolithiasis
ORPHANET:189427	ARMC5	79798	HP:0000819	Diabetes mellitus
OMIM:300636	IKBKG	8517	HP:0002721	Immunodeficiency
OMIM:300636	IKBKG	8517	HP:0002718	Recurrent bacterial infections
OMIM:616501	COA6	388753	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616501	COA6	388753	HP:0003128	Lactic acidosis
OMIM:616501	COA6	388753	HP:0000331	Short chin
OMIM:616501	COA6	388753	HP:0001252	Muscular hypotonia
OMIM:616501	SCO1	6341	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616501	SCO1	6341	HP:0003128	Lactic acidosis
OMIM:616501	SCO1	6341	HP:0000331	Short chin
OMIM:616501	SCO1	6341	HP:0001252	Muscular hypotonia
OMIM:616501	COX15	1355	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616501	COX15	1355	HP:0003128	Lactic acidosis
OMIM:616501	COX15	1355	HP:0000331	Short chin
OMIM:616501	COX15	1355	HP:0001252	Muscular hypotonia
OMIM:616501	SCO2	9997	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616501	SCO2	9997	HP:0003128	Lactic acidosis
OMIM:616501	SCO2	9997	HP:0000331	Short chin
OMIM:616501	SCO2	9997	HP:0001252	Muscular hypotonia
OMIM:616501	COA5	493753	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616501	COA5	493753	HP:0003128	Lactic acidosis
OMIM:616501	COA5	493753	HP:0000331	Short chin
OMIM:616501	COA5	493753	HP:0001252	Muscular hypotonia
OMIM:601410	ABCC8	6833	HP:0001944	Dehydration
OMIM:601410	ABCC8	6833	HP:0001511	Intrauterine growth retardation
OMIM:601410	ABCC8	6833	HP:0003074	Hyperglycemia
OMIM:601410	HYMAI	57061	HP:0001944	Dehydration
OMIM:601410	HYMAI	57061	HP:0001511	Intrauterine growth retardation
OMIM:601410	HYMAI	57061	HP:0003074	Hyperglycemia
OMIM:601410	KCNJ11	3767	HP:0001944	Dehydration
OMIM:601410	KCNJ11	3767	HP:0001511	Intrauterine growth retardation
OMIM:601410	KCNJ11	3767	HP:0003074	Hyperglycemia
OMIM:601410	PLAGL1	5325	HP:0001944	Dehydration
OMIM:601410	PLAGL1	5325	HP:0001511	Intrauterine growth retardation
OMIM:601410	PLAGL1	5325	HP:0003074	Hyperglycemia
OMIM:601410	ZFP57	346171	HP:0001944	Dehydration
OMIM:601410	ZFP57	346171	HP:0001511	Intrauterine growth retardation
OMIM:601410	ZFP57	346171	HP:0003074	Hyperglycemia
ORPHANET:2785	CA2	760	HP:0100543	Cognitive impairment
ORPHANET:2785	CA2	760	HP:0000303	Mandibular prognathia
ORPHANET:2785	CA2	760	HP:0001744	Splenomegaly
ORPHANET:2785	CA2	760	HP:0002240	Hepatomegaly
ORPHANET:2785	CA2	760	HP:0000670	Carious teeth
ORPHANET:2785	CA2	760	HP:0002514	Cerebral calcification
ORPHANET:2785	CA2	760	HP:0011001	Increased bone mineral density
ORPHANET:2785	CA2	760	HP:0002757	Recurrent fractures
ORPHANET:2785	CA2	760	HP:0000091	Abnormality of the renal tubule
ORPHANET:2785	CA2	760	HP:0002653	Bone pain
ORPHANET:2785	CA2	760	HP:0004349	Reduced bone mineral density
ORPHANET:2785	CA2	760	HP:0000648	Optic atrophy
ORPHANET:2785	CA2	760	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:2785	CA2	760	HP:0006482	Abnormality of dental morphology
ORPHANET:2785	CA2	760	HP:0009830	Peripheral neuropathy
ORPHANET:2785	CA2	760	HP:0000505	Visual impairment
ORPHANET:2785	CA2	760	HP:0002857	Genu valgum
ORPHANET:2785	CA2	760	HP:0001873	Thrombocytopenia
ORPHANET:2785	CA2	760	HP:0001903	Anemia
OMIM:300912	KIAA2022	340533	HP:0000322	Short philtrum
OMIM:300912	KIAA2022	340533	HP:0003196	Short nose
OMIM:300912	KIAA2022	340533	HP:0000486	Strabismus
OMIM:300912	KIAA2022	340533	HP:0002020	Gastroesophageal reflux
OMIM:300912	KIAA2022	340533	HP:0000752	Hyperactivity
OMIM:300912	KIAA2022	340533	HP:0002119	Ventriculomegaly
OMIM:300912	KIAA2022	340533	HP:0003577	Congenital onset
OMIM:300912	KIAA2022	340533	HP:0100543	Cognitive impairment
OMIM:300912	KIAA2022	340533	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:300912	KIAA2022	340533	HP:0001257	Spasticity
OMIM:300912	KIAA2022	340533	HP:0001249	Intellectual disability
OMIM:300912	KIAA2022	340533	HP:0004295	Abnormality of the gastric mucosa
OMIM:300912	KIAA2022	340533	HP:0001250	Seizures
OMIM:300912	KIAA2022	340533	HP:0001419	X-linked recessive inheritance
OMIM:300912	KIAA2022	340533	HP:0000565	Esotropia
OMIM:300912	KIAA2022	340533	HP:0001252	Muscular hypotonia
OMIM:300912	KIAA2022	340533	HP:0000252	Microcephaly
OMIM:300912	KIAA2022	340533	HP:0002521	Hypsarrhythmia
OMIM:300912	KIAA2022	340533	HP:0002167	Neurological speech impairment
OMIM:300912	KIAA2022	340533	HP:0000311	Round face
OMIM:300912	KIAA2022	340533	HP:0000049	Shawl scrotum
OMIM:300912	KIAA2022	340533	HP:0008936	Muscular hypotonia of the trunk
OMIM:300912	KIAA2022	340533	HP:0001508	Failure to thrive
OMIM:300912	KIAA2022	340533	HP:0002120	Cerebral cortical atrophy
OMIM:300912	KIAA2022	340533	HP:0001510	Growth delay
OMIM:300912	KIAA2022	340533	HP:0001263	Global developmental delay
OMIM:300912	KIAA2022	340533	HP:0000708	Behavioral abnormality
OMIM:300912	KIAA2022	340533	HP:0010804	Tented upper lip vermilion
ORPHANET:1879	LEMD3	23592	HP:0003103	Abnormal cortical bone morphology
ORPHANET:1879	LEMD3	23592	HP:0000822	Hypertension
ORPHANET:1879	LEMD3	23592	HP:0000951	Abnormality of the skin
ORPHANET:1879	LEMD3	23592	HP:0011001	Increased bone mineral density
OMIM:242150	GJB2	2706	HP:0000563	Keratoconus
OMIM:242150	GJB2	2706	HP:0004322	Short stature
OMIM:242150	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:242150	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:242150	GJB2	2706	HP:0001596	Alopecia
OMIM:242150	GJB2	2706	HP:0000509	Conjunctivitis
OMIM:242150	GJB2	2706	HP:0008064	Ichthyosis
OMIM:242150	GJB2	2706	HP:0001249	Intellectual disability
OMIM:242150	GJB2	2706	HP:0000613	Photophobia
OMIM:242150	GJB2	2706	HP:0000545	Myopia
OMIM:242150	GJB2	2706	HP:0001019	Erythroderma
OMIM:242150	GJB2	2706	HP:0001394	Cirrhosis
OMIM:242150	GJB2	2706	HP:0001508	Failure to thrive
OMIM:242150	GJB6	10804	HP:0000563	Keratoconus
OMIM:242150	GJB6	10804	HP:0004322	Short stature
OMIM:242150	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:242150	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:242150	GJB6	10804	HP:0001596	Alopecia
OMIM:242150	GJB6	10804	HP:0000509	Conjunctivitis
OMIM:242150	GJB6	10804	HP:0008064	Ichthyosis
OMIM:242150	GJB6	10804	HP:0001249	Intellectual disability
OMIM:242150	GJB6	10804	HP:0000613	Photophobia
OMIM:242150	GJB6	10804	HP:0000545	Myopia
OMIM:242150	GJB6	10804	HP:0001019	Erythroderma
OMIM:242150	GJB6	10804	HP:0001394	Cirrhosis
OMIM:242150	GJB6	10804	HP:0001508	Failure to thrive
OMIM:607641	SLC5A7	60482	HP:0001605	Vocal cord paralysis
OMIM:607641	SLC5A7	60482	HP:0000006	Autosomal dominant inheritance
OMIM:607641	SLC5A7	60482	HP:0003693	Distal amyotrophy
OMIM:607641	SLC5A7	60482	HP:0002366	Abnormal lower motor neuron morphology
OMIM:607641	SLC5A7	60482	HP:0003581	Adult onset
OMIM:607641	SLC5A7	60482	HP:0003677	Slow progression
OMIM:607641	SLC5A7	60482	HP:0010628	Facial palsy
OMIM:607641	SLC5A7	60482	HP:0002460	Distal muscle weakness
OMIM:607641	SLC5A7	60482	HP:0007340	Lower limb muscle weakness
OMIM:607641	SLC5A7	60482	HP:0009130	Hand muscle atrophy
OMIM:607641	DCTN1	1639	HP:0001605	Vocal cord paralysis
OMIM:607641	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:607641	DCTN1	1639	HP:0003693	Distal amyotrophy
OMIM:607641	DCTN1	1639	HP:0002366	Abnormal lower motor neuron morphology
OMIM:607641	DCTN1	1639	HP:0003581	Adult onset
OMIM:607641	DCTN1	1639	HP:0003677	Slow progression
OMIM:607641	DCTN1	1639	HP:0010628	Facial palsy
OMIM:607641	DCTN1	1639	HP:0002460	Distal muscle weakness
OMIM:607641	DCTN1	1639	HP:0007340	Lower limb muscle weakness
OMIM:607641	DCTN1	1639	HP:0009130	Hand muscle atrophy
OMIM:130020	COL3A1	1281	HP:0000508	Ptosis
OMIM:130020	COL3A1	1281	HP:0002321	Vertigo
OMIM:130020	COL3A1	1281	HP:0002019	Constipation
OMIM:130020	COL3A1	1281	HP:0001065	Striae distensae
OMIM:130020	COL3A1	1281	HP:0000762	Decreased nerve conduction velocity
OMIM:130020	COL3A1	1281	HP:0005111	Dilatation of the ascending aorta
OMIM:130020	COL3A1	1281	HP:0002076	Migraine
OMIM:130020	COL3A1	1281	HP:0000212	Gingival overgrowth
OMIM:130020	COL3A1	1281	HP:0002360	Sleep disturbance
OMIM:130020	COL3A1	1281	HP:0000963	Thin skin
OMIM:130020	COL3A1	1281	HP:0001763	Pes planus
OMIM:130020	COL3A1	1281	HP:0000974	Hyperextensible skin
OMIM:130020	COL3A1	1281	HP:0100689	Decreased corneal thickness
OMIM:130020	COL3A1	1281	HP:0003401	Paresthesia
OMIM:130020	COL3A1	1281	HP:0001097	Keratoconjunctivitis sicca
OMIM:130020	COL3A1	1281	HP:0001388	Joint laxity
OMIM:130020	COL3A1	1281	HP:0002797	Osteolysis
OMIM:130020	COL3A1	1281	HP:0000140	Abnormality of the menstrual cycle
OMIM:130020	COL3A1	1281	HP:0100261	Abnormal tendon morphology
OMIM:130020	COL3A1	1281	HP:0000006	Autosomal dominant inheritance
OMIM:130020	COL3A1	1281	HP:0002104	Apnea
OMIM:130020	COL3A1	1281	HP:0000230	Gingivitis
OMIM:130020	COL3A1	1281	HP:0001382	Joint hypermobility
OMIM:130020	COL3A1	1281	HP:0002579	Gastrointestinal dysmotility
OMIM:130020	COL3A1	1281	HP:0000174	Abnormality of the palate
OMIM:130020	COL3A1	1281	HP:0005293	Venous insufficiency
OMIM:130020	COL3A1	1281	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:130020	COL3A1	1281	HP:0002758	Osteoarthritis
OMIM:130020	COL3A1	1281	HP:0001063	Acrocyanosis
OMIM:130020	COL3A1	1281	HP:0002829	Arthralgia
OMIM:130020	COL3A1	1281	HP:0001373	Joint dislocation
OMIM:130020	COL3A1	1281	HP:0002024	Malabsorption
OMIM:130020	COL3A1	1281	HP:0002650	Scoliosis
OMIM:130020	COL3A1	1281	HP:0000998	Hypertrichosis
OMIM:130020	COL3A1	1281	HP:0001376	Limitation of joint mobility
OMIM:130020	COL3A1	1281	HP:0001537	Umbilical hernia
OMIM:130020	COL3A1	1281	HP:0011675	Arrhythmia
OMIM:130020	COL3A1	1281	HP:0003272	Abnormality of the hip bone
OMIM:130020	COL3A1	1281	HP:0000691	Microdontia
OMIM:130020	COL3A1	1281	HP:0003326	Myalgia
OMIM:130020	COL3A1	1281	HP:0003019	Abnormality of the wrist
OMIM:130020	COL3A1	1281	HP:0001634	Mitral valve prolapse
OMIM:130020	COL3A1	1281	HP:0002645	Wormian bones
OMIM:130020	COL3A1	1281	HP:0002017	Nausea and vomiting
OMIM:130020	COL3A1	1281	HP:0000286	Epicanthus
OMIM:130020	COL3A1	1281	HP:0003042	Elbow dislocation
OMIM:130020	COL3A1	1281	HP:0000987	Atypical scarring of skin
OMIM:130020	COL3A1	1281	HP:0000144	Decreased fertility
OMIM:130020	COL3A1	1281	HP:0000977	Soft skin
OMIM:130020	TNXB	7148	HP:0000508	Ptosis
OMIM:130020	TNXB	7148	HP:0002321	Vertigo
OMIM:130020	TNXB	7148	HP:0002019	Constipation
OMIM:130020	TNXB	7148	HP:0001065	Striae distensae
OMIM:130020	TNXB	7148	HP:0000762	Decreased nerve conduction velocity
OMIM:130020	TNXB	7148	HP:0005111	Dilatation of the ascending aorta
OMIM:130020	TNXB	7148	HP:0002076	Migraine
OMIM:130020	TNXB	7148	HP:0000212	Gingival overgrowth
OMIM:130020	TNXB	7148	HP:0002360	Sleep disturbance
OMIM:130020	TNXB	7148	HP:0000963	Thin skin
OMIM:130020	TNXB	7148	HP:0001763	Pes planus
OMIM:130020	TNXB	7148	HP:0000974	Hyperextensible skin
OMIM:130020	TNXB	7148	HP:0100689	Decreased corneal thickness
OMIM:130020	TNXB	7148	HP:0003401	Paresthesia
OMIM:130020	TNXB	7148	HP:0001097	Keratoconjunctivitis sicca
OMIM:130020	TNXB	7148	HP:0001388	Joint laxity
OMIM:130020	TNXB	7148	HP:0002797	Osteolysis
OMIM:130020	TNXB	7148	HP:0000140	Abnormality of the menstrual cycle
OMIM:130020	TNXB	7148	HP:0100261	Abnormal tendon morphology
OMIM:130020	TNXB	7148	HP:0000006	Autosomal dominant inheritance
OMIM:130020	TNXB	7148	HP:0002104	Apnea
OMIM:130020	TNXB	7148	HP:0000230	Gingivitis
OMIM:130020	TNXB	7148	HP:0001382	Joint hypermobility
OMIM:130020	TNXB	7148	HP:0002579	Gastrointestinal dysmotility
OMIM:130020	TNXB	7148	HP:0000174	Abnormality of the palate
OMIM:130020	TNXB	7148	HP:0005293	Venous insufficiency
OMIM:130020	TNXB	7148	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:130020	TNXB	7148	HP:0002758	Osteoarthritis
OMIM:130020	TNXB	7148	HP:0001063	Acrocyanosis
OMIM:130020	TNXB	7148	HP:0002829	Arthralgia
OMIM:130020	TNXB	7148	HP:0001373	Joint dislocation
OMIM:130020	TNXB	7148	HP:0002024	Malabsorption
OMIM:130020	TNXB	7148	HP:0002650	Scoliosis
OMIM:130020	TNXB	7148	HP:0000998	Hypertrichosis
OMIM:130020	TNXB	7148	HP:0001376	Limitation of joint mobility
OMIM:130020	TNXB	7148	HP:0001537	Umbilical hernia
OMIM:130020	TNXB	7148	HP:0011675	Arrhythmia
OMIM:130020	TNXB	7148	HP:0003272	Abnormality of the hip bone
OMIM:130020	TNXB	7148	HP:0000691	Microdontia
OMIM:130020	TNXB	7148	HP:0003326	Myalgia
OMIM:130020	TNXB	7148	HP:0003019	Abnormality of the wrist
OMIM:130020	TNXB	7148	HP:0001634	Mitral valve prolapse
OMIM:130020	TNXB	7148	HP:0002645	Wormian bones
OMIM:130020	TNXB	7148	HP:0002017	Nausea and vomiting
OMIM:130020	TNXB	7148	HP:0000286	Epicanthus
OMIM:130020	TNXB	7148	HP:0003042	Elbow dislocation
OMIM:130020	TNXB	7148	HP:0000987	Atypical scarring of skin
OMIM:130020	TNXB	7148	HP:0000144	Decreased fertility
OMIM:130020	TNXB	7148	HP:0000977	Soft skin
OMIM:241510	ALPL	249	HP:0001363	Craniosynostosis
OMIM:241510	ALPL	249	HP:0000670	Carious teeth
OMIM:241510	ALPL	249	HP:0002007	Frontal bossing
OMIM:241510	ALPL	249	HP:0000268	Dolichocephaly
OMIM:241510	ALPL	249	HP:0002979	Bowing of the legs
OMIM:241510	ALPL	249	HP:0004322	Short stature
OMIM:241510	ALPL	249	HP:0001250	Seizures
OMIM:241510	ALPL	249	HP:0000007	Autosomal recessive inheritance
OMIM:241510	ALPL	249	HP:0000520	Proptosis
OMIM:241510	ALPL	249	HP:0002515	Waddling gait
OMIM:241510	ALPL	249	HP:0003198	Myopathy
OMIM:611590	SLC4A1	6521	HP:0001942	Metabolic acidosis
OMIM:611590	SLC4A1	6521	HP:0000121	Nephrocalcinosis
OMIM:611590	SLC4A1	6521	HP:0001508	Failure to thrive
OMIM:611590	SLC4A1	6521	HP:0000007	Autosomal recessive inheritance
OMIM:616239	NARS2	79731	HP:0003202	Skeletal muscle atrophy
OMIM:616239	NARS2	79731	HP:0001250	Seizures
OMIM:616239	NARS2	79731	HP:0010628	Facial palsy
OMIM:616239	NARS2	79731	HP:0000252	Microcephaly
OMIM:616239	NARS2	79731	HP:0001260	Dysarthria
OMIM:616239	NARS2	79731	HP:0003198	Myopathy
OMIM:616239	NARS2	79731	HP:0001256	Intellectual disability, mild
ORPHANET:98849	KIT	3815	HP:0001879	Abnormality of eosinophils
ORPHANET:98849	KIT	3815	HP:0002488	Acute leukemia
OMIM:607778	IHH	3549	HP:0000767	Pectus excavatum
OMIM:607778	IHH	3549	HP:0003022	Hypoplasia of the ulna
OMIM:607778	IHH	3549	HP:0001156	Brachydactyly syndrome
OMIM:607778	IHH	3549	HP:0002869	Flared iliac wings
OMIM:607778	IHH	3549	HP:0010049	Short metacarpal
OMIM:607778	IHH	3549	HP:0000773	Short ribs
OMIM:607778	IHH	3549	HP:0004482	Relative macrocephaly
OMIM:607778	IHH	3549	HP:0001163	Abnormality of the metacarpal bones
OMIM:607778	IHH	3549	HP:0005792	Short humerus
OMIM:607778	IHH	3549	HP:0002970	Genu varum
OMIM:607778	IHH	3549	HP:0000768	Pectus carinatum
OMIM:607778	IHH	3549	HP:0000887	Cupped ribs
OMIM:607778	IHH	3549	HP:0008873	Disproportionate short-limb short stature
OMIM:607778	IHH	3549	HP:0001821	Broad nail
OMIM:607778	IHH	3549	HP:0000774	Narrow chest
OMIM:607778	IHH	3549	HP:0002650	Scoliosis
OMIM:607778	IHH	3549	HP:0004279	Short palm
OMIM:607778	IHH	3549	HP:0003312	Abnormal form of the vertebral bodies
OMIM:607778	IHH	3549	HP:0009882	Short distal phalanx of finger
OMIM:607778	IHH	3549	HP:0002984	Hypoplasia of the radius
OMIM:607778	IHH	3549	HP:0001798	Anonychia
OMIM:607778	IHH	3549	HP:0002823	Abnormality of the femur
OMIM:607778	IHH	3549	HP:0100864	Short femoral neck
OMIM:607778	IHH	3549	HP:0010579	Cone-shaped epiphysis
OMIM:607778	IHH	3549	HP:0000007	Autosomal recessive inheritance
OMIM:607778	IHH	3549	HP:0001216	Delayed ossification of carpal bones
OMIM:607778	IHH	3549	HP:0003307	Hyperlordosis
OMIM:607778	IHH	3549	HP:0000256	Macrocephaly
OMIM:607778	IHH	3549	HP:0003300	Ovoid vertebral bodies
OMIM:607778	IHH	3549	HP:0005736	Short tibia
OMIM:607778	IHH	3549	HP:0002983	Micromelia
OMIM:607778	IHH	3549	HP:0002938	Lumbar hyperlordosis
OMIM:607778	IHH	3549	HP:0003272	Abnormality of the hip bone
OMIM:607778	IHH	3549	HP:0004322	Short stature
OMIM:607778	IHH	3549	HP:0003498	Disproportionate short stature
OMIM:607778	IHH	3549	HP:0002750	Delayed skeletal maturation
OMIM:607778	IHH	3549	HP:0002812	Coxa vara
OMIM:607778	IHH	3549	HP:0010306	Short thorax
OMIM:109543	ARL11	115761	HP:0000006	Autosomal dominant inheritance
OMIM:109543	ARL11	115761	HP:0005550	Chronic lymphatic leukemia
OMIM:109543	CCND1	595	HP:0000006	Autosomal dominant inheritance
OMIM:109543	CCND1	595	HP:0005550	Chronic lymphatic leukemia
OMIM:109543	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:109543	TP53	7157	HP:0005550	Chronic lymphatic leukemia
OMIM:109543	ATM	472	HP:0000006	Autosomal dominant inheritance
OMIM:109543	ATM	472	HP:0005550	Chronic lymphatic leukemia
OMIM:109543	POT1	25913	HP:0000006	Autosomal dominant inheritance
OMIM:109543	POT1	25913	HP:0005550	Chronic lymphatic leukemia
OMIM:109543	IGHG1	3500	HP:0000006	Autosomal dominant inheritance
OMIM:109543	IGHG1	3500	HP:0005550	Chronic lymphatic leukemia
OMIM:604805	RTN2	6253	HP:0003676	Progressive
OMIM:604805	RTN2	6253	HP:0000006	Autosomal dominant inheritance
OMIM:604805	RTN2	6253	HP:0003487	Babinski sign
OMIM:604805	RTN2	6253	HP:0001347	Hyperreflexia
OMIM:604805	RTN2	6253	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:604805	RTN2	6253	HP:0000012	Urinary urgency
OMIM:604805	RTN2	6253	HP:0011448	Ankle clonus
OMIM:604805	RTN2	6253	HP:0001761	Pes cavus
OMIM:604805	RTN2	6253	HP:0002064	Spastic gait
OMIM:604805	RTN2	6253	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:604805	RTN2	6253	HP:0000020	Urinary incontinence
OMIM:604805	RTN2	6253	HP:0011449	Knee clonus
OMIM:604805	RTN2	6253	HP:0001258	Spastic paraplegia
OMIM:604805	RTN2	6253	HP:0007340	Lower limb muscle weakness
OMIM:116200	CRYAA	1409	HP:0100018	Nuclear cataract
OMIM:116200	CRYAA	1409	HP:0010693	Pulverulent Cataract
OMIM:116200	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:116200	CRYAA	1409	HP:0000519	Congenital cataract
OMIM:116200	CRYBA2	1412	HP:0100018	Nuclear cataract
OMIM:116200	CRYBA2	1412	HP:0010693	Pulverulent Cataract
OMIM:116200	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:116200	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:116200	CRYBA4	1413	HP:0100018	Nuclear cataract
OMIM:116200	CRYBA4	1413	HP:0010693	Pulverulent Cataract
OMIM:116200	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:116200	CRYBA4	1413	HP:0000519	Congenital cataract
OMIM:116200	CRYBB1	1414	HP:0100018	Nuclear cataract
OMIM:116200	CRYBB1	1414	HP:0010693	Pulverulent Cataract
OMIM:116200	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:116200	CRYBB1	1414	HP:0000519	Congenital cataract
OMIM:116200	AGK	55750	HP:0100018	Nuclear cataract
OMIM:116200	AGK	55750	HP:0010693	Pulverulent Cataract
OMIM:116200	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:116200	AGK	55750	HP:0000519	Congenital cataract
OMIM:116200	CRYBB2	1415	HP:0100018	Nuclear cataract
OMIM:116200	CRYBB2	1415	HP:0010693	Pulverulent Cataract
OMIM:116200	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:116200	CRYBB2	1415	HP:0000519	Congenital cataract
OMIM:116200	VIM	7431	HP:0100018	Nuclear cataract
OMIM:116200	VIM	7431	HP:0010693	Pulverulent Cataract
OMIM:116200	VIM	7431	HP:0000006	Autosomal dominant inheritance
OMIM:116200	VIM	7431	HP:0000519	Congenital cataract
OMIM:116200	CRYGC	1420	HP:0100018	Nuclear cataract
OMIM:116200	CRYGC	1420	HP:0010693	Pulverulent Cataract
OMIM:116200	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:116200	CRYGC	1420	HP:0000519	Congenital cataract
OMIM:116200	GJA3	2700	HP:0100018	Nuclear cataract
OMIM:116200	GJA3	2700	HP:0010693	Pulverulent Cataract
OMIM:116200	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:116200	GJA3	2700	HP:0000519	Congenital cataract
OMIM:116200	CRYGD	1421	HP:0100018	Nuclear cataract
OMIM:116200	CRYGD	1421	HP:0010693	Pulverulent Cataract
OMIM:116200	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:116200	CRYGD	1421	HP:0000519	Congenital cataract
OMIM:116200	LIM2	3982	HP:0100018	Nuclear cataract
OMIM:116200	LIM2	3982	HP:0010693	Pulverulent Cataract
OMIM:116200	LIM2	3982	HP:0000006	Autosomal dominant inheritance
OMIM:116200	LIM2	3982	HP:0000519	Congenital cataract
OMIM:116200	GJA8	2703	HP:0100018	Nuclear cataract
OMIM:116200	GJA8	2703	HP:0010693	Pulverulent Cataract
OMIM:116200	GJA8	2703	HP:0000006	Autosomal dominant inheritance
OMIM:116200	GJA8	2703	HP:0000519	Congenital cataract
OMIM:116200	GCNT2	2651	HP:0100018	Nuclear cataract
OMIM:116200	GCNT2	2651	HP:0010693	Pulverulent Cataract
OMIM:116200	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:116200	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:116200	MAF	4094	HP:0100018	Nuclear cataract
OMIM:116200	MAF	4094	HP:0010693	Pulverulent Cataract
OMIM:116200	MAF	4094	HP:0000006	Autosomal dominant inheritance
OMIM:116200	MAF	4094	HP:0000519	Congenital cataract
OMIM:614326	MIR17HG	407975	HP:0000252	Microcephaly
OMIM:614326	MIR17HG	407975	HP:0001249	Intellectual disability
OMIM:614326	MIR17HG	407975	HP:0001156	Brachydactyly syndrome
OMIM:614326	MIR17HG	407975	HP:0000006	Autosomal dominant inheritance
OMIM:614326	MIR17HG	407975	HP:0009778	Short thumb
OMIM:614326	MIR17HG	407975	HP:0004322	Short stature
OMIM:614326	MIR17HG	407975	HP:0005819	Short middle phalanx of finger
OMIM:305450	MED12	9968	HP:0010055	Broad hallux
OMIM:305450	MED12	9968	HP:0009466	Radial deviation of finger
OMIM:305450	MED12	9968	HP:0001357	Plagiocephaly
OMIM:305450	MED12	9968	HP:0002021	Pyloric stenosis
OMIM:305450	MED12	9968	HP:0002282	Heterotopia
OMIM:305450	MED12	9968	HP:0000238	Hydrocephalus
OMIM:305450	MED12	9968	HP:0000028	Cryptorchidism
OMIM:305450	MED12	9968	HP:0000316	Hypertelorism
OMIM:305450	MED12	9968	HP:0000343	Long philtrum
OMIM:305450	MED12	9968	HP:0001159	Syndactyly
OMIM:305450	MED12	9968	HP:0009473	Joint contracture of the hand
OMIM:305450	MED12	9968	HP:0007018	Attention deficit hyperactivity disorder
OMIM:305450	MED12	9968	HP:0001620	High pitched voice
OMIM:305450	MED12	9968	HP:0000407	Sensorineural hearing impairment
OMIM:305450	MED12	9968	HP:0001171	Split hand
OMIM:305450	MED12	9968	HP:0000494	Downslanted palpebral fissures
OMIM:305450	MED12	9968	HP:0004322	Short stature
OMIM:305450	MED12	9968	HP:0011220	Prominent forehead
OMIM:305450	MED12	9968	HP:0001250	Seizures
OMIM:305450	MED12	9968	HP:0000179	Thick lower lip vermilion
OMIM:305450	MED12	9968	HP:0000204	Cleft upper lip
OMIM:305450	MED12	9968	HP:0000453	Choanal atresia
OMIM:305450	MED12	9968	HP:0001627	Abnormal heart morphology
OMIM:305450	MED12	9968	HP:0002025	Anal stenosis
OMIM:305450	MED12	9968	HP:0000960	Sacral dimple
OMIM:305450	MED12	9968	HP:0011304	Broad thumb
OMIM:305450	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:305450	MED12	9968	HP:0000954	Single transverse palmar crease
OMIM:305450	MED12	9968	HP:0001263	Global developmental delay
OMIM:305450	MED12	9968	HP:0000189	Narrow palate
OMIM:305450	MED12	9968	HP:0002828	Multiple joint contractures
OMIM:305450	MED12	9968	HP:0002019	Constipation
OMIM:305450	MED12	9968	HP:0008070	Sparse hair
OMIM:305450	MED12	9968	HP:0000154	Wide mouth
OMIM:305450	MED12	9968	HP:0002007	Frontal bossing
OMIM:305450	MED12	9968	HP:0000470	Short neck
OMIM:305450	MED12	9968	HP:0010609	Skin tags
OMIM:305450	MED12	9968	HP:0000448	Prominent nose
OMIM:305450	MED12	9968	HP:0000175	Cleft palate
OMIM:305450	MED12	9968	HP:0000766	Abnormality of the sternum
OMIM:305450	MED12	9968	HP:0001270	Motor delay
OMIM:305450	MED12	9968	HP:0001537	Umbilical hernia
OMIM:305450	MED12	9968	HP:0001319	Neonatal hypotonia
OMIM:305450	MED12	9968	HP:0030084	Clinodactyly
OMIM:305450	MED12	9968	HP:0000486	Strabismus
OMIM:305450	MED12	9968	HP:0001249	Intellectual disability
OMIM:305450	MED12	9968	HP:0001338	Partial agenesis of the corpus callosum
OMIM:305450	MED12	9968	HP:0000047	Hypospadias
OMIM:305450	MED12	9968	HP:0000347	Micrognathia
OMIM:305450	MED12	9968	HP:0002213	Fine hair
OMIM:305450	MED12	9968	HP:0000023	Inguinal hernia
OMIM:305450	MED12	9968	HP:0001739	Abnormality of the nasopharynx
OMIM:305450	MED12	9968	HP:0002938	Lumbar hyperlordosis
OMIM:305450	MED12	9968	HP:0002566	Intestinal malrotation
OMIM:305450	MED12	9968	HP:0012385	Camptodactyly
OMIM:305450	MED12	9968	HP:0000678	Dental crowding
OMIM:305450	MED12	9968	HP:0002023	Anal atresia
OMIM:305450	MED12	9968	HP:0000286	Epicanthus
OMIM:611597	BFSP2	8419	HP:0000519	Congenital cataract
OMIM:611597	BFSP2	8419	HP:0000006	Autosomal dominant inheritance
OMIM:611597	BFSP2	8419	HP:0000545	Myopia
OMIM:611597	BFSP2	8419	HP:0007834	Progressive cataract
OMIM:611597	CRYGS	1427	HP:0000519	Congenital cataract
OMIM:611597	CRYGS	1427	HP:0000006	Autosomal dominant inheritance
OMIM:611597	CRYGS	1427	HP:0000545	Myopia
OMIM:611597	CRYGS	1427	HP:0007834	Progressive cataract
OMIM:611597	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:611597	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:611597	CRYBA2	1412	HP:0000545	Myopia
OMIM:611597	CRYBA2	1412	HP:0007834	Progressive cataract
OMIM:611597	AGK	55750	HP:0000519	Congenital cataract
OMIM:611597	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:611597	AGK	55750	HP:0000545	Myopia
OMIM:611597	AGK	55750	HP:0007834	Progressive cataract
OMIM:611597	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:611597	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:611597	GCNT2	2651	HP:0000545	Myopia
OMIM:611597	GCNT2	2651	HP:0007834	Progressive cataract
OMIM:210730	RNU4ATAC	100151683	HP:0000501	Glaucoma
OMIM:210730	RNU4ATAC	100151683	HP:0000270	Delayed cranial suture closure
OMIM:210730	RNU4ATAC	100151683	HP:0006380	Knee flexion contracture
OMIM:210730	RNU4ATAC	100151683	HP:0000648	Optic atrophy
OMIM:210730	RNU4ATAC	100151683	HP:0003173	Hypoplastic pubic bone
OMIM:210730	RNU4ATAC	100151683	HP:0000047	Hypospadias
OMIM:210730	RNU4ATAC	100151683	HP:0000252	Microcephaly
OMIM:210730	RNU4ATAC	100151683	HP:0000341	Narrow forehead
OMIM:210730	RNU4ATAC	100151683	HP:0000613	Photophobia
OMIM:210730	RNU4ATAC	100151683	HP:0000215	Thick upper lip vermilion
OMIM:210730	RNU4ATAC	100151683	HP:0001620	High pitched voice
OMIM:210730	RNU4ATAC	100151683	HP:0000218	High palate
OMIM:210730	RNU4ATAC	100151683	HP:0003100	Slender long bone
OMIM:210730	RNU4ATAC	100151683	HP:0001883	Talipes
OMIM:210730	RNU4ATAC	100151683	HP:0009465	Ulnar deviation of finger
OMIM:210730	RNU4ATAC	100151683	HP:0000520	Proptosis
OMIM:210730	RNU4ATAC	100151683	HP:0001249	Intellectual disability
OMIM:210730	RNU4ATAC	100151683	HP:0000486	Strabismus
OMIM:210730	RNU4ATAC	100151683	HP:0003273	Hip contracture
OMIM:210730	RNU4ATAC	100151683	HP:0004209	Clinodactyly of the 5th finger
OMIM:210730	RNU4ATAC	100151683	HP:0000768	Pectus carinatum
OMIM:210730	RNU4ATAC	100151683	HP:0003510	Severe short stature
OMIM:210730	RNU4ATAC	100151683	HP:0000540	Hypermetropia
OMIM:210730	RNU4ATAC	100151683	HP:0000567	Chorioretinal coloboma
OMIM:210730	RNU4ATAC	100151683	HP:0000219	Thin upper lip vermilion
OMIM:210730	RNU4ATAC	100151683	HP:0001272	Cerebellar atrophy
OMIM:210730	RNU4ATAC	100151683	HP:0001511	Intrauterine growth retardation
OMIM:210730	RNU4ATAC	100151683	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:210730	RNU4ATAC	100151683	HP:0003175	Hypoplastic ischia
OMIM:210730	RNU4ATAC	100151683	HP:0000347	Micrognathia
OMIM:210730	RNU4ATAC	100151683	HP:0001252	Muscular hypotonia
OMIM:210730	RNU4ATAC	100151683	HP:0002751	Kyphoscoliosis
OMIM:210730	RNU4ATAC	100151683	HP:0000340	Sloping forehead
OMIM:210730	RNU4ATAC	100151683	HP:0000007	Autosomal recessive inheritance
OMIM:120100	NLRP3	114548	HP:0001944	Dehydration
OMIM:120100	NLRP3	114548	HP:0001025	Urticaria
OMIM:120100	NLRP3	114548	HP:0000006	Autosomal dominant inheritance
OMIM:120100	NLRP3	114548	HP:0001933	Subcutaneous hemorrhage
OMIM:120100	NLRP3	114548	HP:0002829	Arthralgia
OMIM:120100	NLRP3	114548	HP:0002076	Migraine
OMIM:120100	NLRP3	114548	HP:0000989	Pruritus
OMIM:120100	NLRP3	114548	HP:0003326	Myalgia
OMIM:120100	NLRP3	114548	HP:0002017	Nausea and vomiting
OMIM:120100	NLRP3	114548	HP:0000407	Sensorineural hearing impairment
OMIM:120100	NLRP3	114548	HP:0003593	Infantile onset
OMIM:120100	NLRP3	114548	HP:0000509	Conjunctivitis
OMIM:120100	NLRP3	114548	HP:0000975	Hyperhidrosis
OMIM:120100	NLRP3	114548	HP:0001369	Arthritis
OMIM:120100	NLRP3	114548	HP:0001974	Leukocytosis
OMIM:193220	BEST1	7439	HP:0000541	Retinal detachment
OMIM:193220	BEST1	7439	HP:0007703	Abnormality of retinal pigmentation
OMIM:193220	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:193220	BEST1	7439	HP:0000639	Nystagmus
OMIM:193220	BEST1	7439	HP:0008043	Retinal arteriolar constriction
OMIM:193220	BEST1	7439	HP:0007641	Dyschromatopsia
OMIM:193220	BEST1	7439	HP:0000568	Microphthalmia
OMIM:193220	BEST1	7439	HP:0000482	Microcornea
OMIM:193220	BEST1	7439	HP:0000580	Pigmentary retinopathy
OMIM:193220	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:193220	BEST1	7439	HP:0000501	Glaucoma
OMIM:193220	BEST1	7439	HP:0010693	Pulverulent Cataract
OMIM:193220	BEST1	7439	HP:0000486	Strabismus
OMIM:193220	BEST1	7439	HP:0008063	Aplasia/Hypoplasia of the lens
OMIM:193220	BEST1	7439	HP:0000648	Optic atrophy
OMIM:193220	BEST1	7439	HP:0000551	Abnormality of color vision
OMIM:193220	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613243	TNNC1	7134	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611040	MFRP	83552	HP:0000568	Microphthalmia
OMIM:611040	MFRP	83552	HP:0000540	Hypermetropia
OMIM:611040	MFRP	83552	HP:0007663	Reduced visual acuity
OMIM:611040	MFRP	83552	HP:0001000	Abnormality of skin pigmentation
OMIM:611040	MFRP	83552	HP:0007722	Retinal pigment epithelial atrophy
OMIM:611040	MFRP	83552	HP:0000493	Abnormality of the fovea
OMIM:611040	MFRP	83552	HP:0011510	Drusen
OMIM:611040	MFRP	83552	HP:0000510	Rod-cone dystrophy
OMIM:611040	MFRP	83552	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:611040	MFRP	83552	HP:0011505	Cystoid macular edema
OMIM:611040	MFRP	83552	HP:0000591	Abnormality of the sclera
OMIM:611040	MFRP	83552	HP:0007737	Bone spicule pigmentation of the retina
OMIM:611040	MFRP	83552	HP:0000613	Photophobia
OMIM:611040	MFRP	83552	HP:0000007	Autosomal recessive inheritance
OMIM:611040	MFRP	83552	HP:0000662	Nyctalopia
OMIM:611040	MFRP	83552	HP:0000505	Visual impairment
OMIM:611040	MFRP	83552	HP:0000518	Cataract
OMIM:300367	GATA1	2623	HP:0010972	Anemia of inadequate production
OMIM:300367	GATA1	2623	HP:0000421	Epistaxis
OMIM:300367	GATA1	2623	HP:0000967	Petechiae
OMIM:300367	GATA1	2623	HP:0003593	Infantile onset
OMIM:300367	GATA1	2623	HP:0000978	Bruising susceptibility
OMIM:300367	GATA1	2623	HP:0001419	X-linked recessive inheritance
OMIM:300367	GATA1	2623	HP:0003828	Variable expressivity
OMIM:301835	PRPS1	5631	HP:0000365	Hearing impairment
OMIM:301835	PRPS1	5631	HP:0002307	Drooling
OMIM:301835	PRPS1	5631	HP:0010978	Abnormality of immune system physiology
OMIM:301835	PRPS1	5631	HP:0000648	Optic atrophy
OMIM:301835	PRPS1	5631	HP:0002445	Tetraplegia
OMIM:301835	PRPS1	5631	HP:0000407	Sensorineural hearing impairment
OMIM:301835	PRPS1	5631	HP:0001284	Areflexia
OMIM:301835	PRPS1	5631	HP:0000505	Visual impairment
OMIM:301835	PRPS1	5631	HP:0100543	Cognitive impairment
OMIM:301835	PRPS1	5631	HP:0009830	Peripheral neuropathy
OMIM:301835	PRPS1	5631	HP:0002719	Recurrent infections
OMIM:301835	PRPS1	5631	HP:0000572	Visual loss
OMIM:301835	PRPS1	5631	HP:0000639	Nystagmus
OMIM:301835	PRPS1	5631	HP:0001344	Absent speech
OMIM:301835	PRPS1	5631	HP:0001522	Death in infancy
OMIM:301835	PRPS1	5631	HP:0001319	Neonatal hypotonia
OMIM:301835	PRPS1	5631	HP:0004374	Hemiplegia/hemiparesis
OMIM:301835	PRPS1	5631	HP:0001250	Seizures
OMIM:301835	PRPS1	5631	HP:0001263	Global developmental delay
OMIM:301835	PRPS1	5631	HP:0001315	Reduced tendon reflexes
OMIM:301835	PRPS1	5631	HP:0002311	Incoordination
OMIM:301835	PRPS1	5631	HP:0002788	Recurrent upper respiratory tract infections
OMIM:301835	PRPS1	5631	HP:0002721	Immunodeficiency
OMIM:301835	PRPS1	5631	HP:0001324	Muscle weakness
OMIM:301835	PRPS1	5631	HP:0001252	Muscular hypotonia
OMIM:301835	PRPS1	5631	HP:0001510	Growth delay
OMIM:301835	PRPS1	5631	HP:0001251	Ataxia
OMIM:301835	PRPS1	5631	HP:0000762	Decreased nerve conduction velocity
OMIM:301835	PRPS1	5631	HP:0001347	Hyperreflexia
OMIM:301835	PRPS1	5631	HP:0002015	Dysphagia
OMIM:301835	PRPS1	5631	HP:0002093	Respiratory insufficiency
OMIM:301835	PRPS1	5631	HP:0001419	X-linked recessive inheritance
OMIM:301835	PRPS1	5631	HP:0001249	Intellectual disability
OMIM:615511	AMPD3	272	HP:0001324	Muscle weakness
OMIM:615511	AMPD3	272	HP:0001252	Muscular hypotonia
OMIM:615511	AMPD3	272	HP:0003201	Rhabdomyolysis
OMIM:615511	AMPD1	270	HP:0001324	Muscle weakness
OMIM:615511	AMPD1	270	HP:0001252	Muscular hypotonia
OMIM:615511	AMPD1	270	HP:0003201	Rhabdomyolysis
OMIM:308100	STS	412	HP:0002664	Neoplasm
OMIM:308100	STS	412	HP:0004298	Abnormality of the abdominal wall
OMIM:308100	STS	412	HP:0002488	Acute leukemia
OMIM:308100	STS	412	HP:0001250	Seizures
OMIM:308100	STS	412	HP:0004322	Short stature
OMIM:308100	STS	412	HP:0007759	Opacification of the corneal stroma
OMIM:308100	STS	412	HP:0000028	Cryptorchidism
OMIM:308100	STS	412	HP:0000083	Renal insufficiency
OMIM:308100	STS	412	HP:0000962	Hyperkeratosis
OMIM:308100	STS	412	HP:0008678	Renal hypoplasia/aplasia
OMIM:308100	STS	412	HP:0000966	Hypohidrosis
OMIM:308100	STS	412	HP:0004408	Abnormality of the sense of smell
OMIM:308100	STS	412	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:308100	STS	412	HP:0008064	Ichthyosis
OMIM:308100	STS	412	HP:0002167	Neurological speech impairment
OMIM:308100	STS	412	HP:0000717	Autism
OMIM:308100	STS	412	HP:0000958	Dry skin
OMIM:308100	STS	412	HP:0100543	Cognitive impairment
OMIM:308100	STS	412	HP:0010788	Testicular neoplasm
OMIM:308100	STS	412	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:308100	STS	412	HP:0001419	X-linked recessive inheritance
OMIM:308100	STS	412	HP:0002269	Abnormality of neuronal migration
OMIM:308100	STS	412	HP:0002577	Abnormality of the stomach
OMIM:308100	STS	412	HP:0007018	Attention deficit hyperactivity disorder
OMIM:612949	SLC25A12	8604	HP:0006808	Cerebral hypomyelination
OMIM:612949	SLC25A12	8604	HP:0006829	Severe muscular hypotonia
OMIM:612949	SLC25A12	8604	HP:0001250	Seizures
OMIM:612949	SLC25A12	8604	HP:0001347	Hyperreflexia
OMIM:612949	SLC25A12	8604	HP:0003593	Infantile onset
OMIM:612949	SLC25A12	8604	HP:0001263	Global developmental delay
OMIM:612949	SLC25A12	8604	HP:0000007	Autosomal recessive inheritance
OMIM:612949	SLC25A12	8604	HP:0001257	Spasticity
OMIM:614609	ARID1A	8289	HP:0000574	Thick eyebrow
OMIM:614609	ARID1A	8289	HP:0001249	Intellectual disability
OMIM:614609	ARID1A	8289	HP:0001250	Seizures
OMIM:614609	ARID1A	8289	HP:0000006	Autosomal dominant inheritance
OMIM:614609	ARID1A	8289	HP:0001007	Hirsutism
OMIM:614609	ARID1A	8289	HP:0002209	Sparse scalp hair
OMIM:614609	ARID1A	8289	HP:0000252	Microcephaly
OMIM:614609	ARID1A	8289	HP:0000527	Long eyelashes
OMIM:614609	ARID1A	8289	HP:0001252	Muscular hypotonia
OMIM:614609	ARID1A	8289	HP:0001305	Dandy-Walker malformation
OMIM:614609	ARID1A	8289	HP:0000505	Visual impairment
OMIM:614609	ARID1B	57492	HP:0000574	Thick eyebrow
OMIM:614609	ARID1B	57492	HP:0001249	Intellectual disability
OMIM:614609	ARID1B	57492	HP:0001250	Seizures
OMIM:614609	ARID1B	57492	HP:0000006	Autosomal dominant inheritance
OMIM:614609	ARID1B	57492	HP:0001007	Hirsutism
OMIM:614609	ARID1B	57492	HP:0002209	Sparse scalp hair
OMIM:614609	ARID1B	57492	HP:0000252	Microcephaly
OMIM:614609	ARID1B	57492	HP:0000527	Long eyelashes
OMIM:614609	ARID1B	57492	HP:0001252	Muscular hypotonia
OMIM:614609	ARID1B	57492	HP:0001305	Dandy-Walker malformation
OMIM:614609	ARID1B	57492	HP:0000505	Visual impairment
OMIM:614609	SMARCA4	6597	HP:0000574	Thick eyebrow
OMIM:614609	SMARCA4	6597	HP:0001249	Intellectual disability
OMIM:614609	SMARCA4	6597	HP:0001250	Seizures
OMIM:614609	SMARCA4	6597	HP:0000006	Autosomal dominant inheritance
OMIM:614609	SMARCA4	6597	HP:0001007	Hirsutism
OMIM:614609	SMARCA4	6597	HP:0002209	Sparse scalp hair
OMIM:614609	SMARCA4	6597	HP:0000252	Microcephaly
OMIM:614609	SMARCA4	6597	HP:0000527	Long eyelashes
OMIM:614609	SMARCA4	6597	HP:0001252	Muscular hypotonia
OMIM:614609	SMARCA4	6597	HP:0001305	Dandy-Walker malformation
OMIM:614609	SMARCA4	6597	HP:0000505	Visual impairment
OMIM:614609	SMARCB1	6598	HP:0000574	Thick eyebrow
OMIM:614609	SMARCB1	6598	HP:0001249	Intellectual disability
OMIM:614609	SMARCB1	6598	HP:0001250	Seizures
OMIM:614609	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
OMIM:614609	SMARCB1	6598	HP:0001007	Hirsutism
OMIM:614609	SMARCB1	6598	HP:0002209	Sparse scalp hair
OMIM:614609	SMARCB1	6598	HP:0000252	Microcephaly
OMIM:614609	SMARCB1	6598	HP:0000527	Long eyelashes
OMIM:614609	SMARCB1	6598	HP:0001252	Muscular hypotonia
OMIM:614609	SMARCB1	6598	HP:0001305	Dandy-Walker malformation
OMIM:614609	SMARCB1	6598	HP:0000505	Visual impairment
OMIM:614609	SOX11	6664	HP:0000574	Thick eyebrow
OMIM:614609	SOX11	6664	HP:0001249	Intellectual disability
OMIM:614609	SOX11	6664	HP:0001250	Seizures
OMIM:614609	SOX11	6664	HP:0000006	Autosomal dominant inheritance
OMIM:614609	SOX11	6664	HP:0001007	Hirsutism
OMIM:614609	SOX11	6664	HP:0002209	Sparse scalp hair
OMIM:614609	SOX11	6664	HP:0000252	Microcephaly
OMIM:614609	SOX11	6664	HP:0000527	Long eyelashes
OMIM:614609	SOX11	6664	HP:0001252	Muscular hypotonia
OMIM:614609	SOX11	6664	HP:0001305	Dandy-Walker malformation
OMIM:614609	SOX11	6664	HP:0000505	Visual impairment
OMIM:614609	SMARCE1	6605	HP:0000574	Thick eyebrow
OMIM:614609	SMARCE1	6605	HP:0001249	Intellectual disability
OMIM:614609	SMARCE1	6605	HP:0001250	Seizures
OMIM:614609	SMARCE1	6605	HP:0000006	Autosomal dominant inheritance
OMIM:614609	SMARCE1	6605	HP:0001007	Hirsutism
OMIM:614609	SMARCE1	6605	HP:0002209	Sparse scalp hair
OMIM:614609	SMARCE1	6605	HP:0000252	Microcephaly
OMIM:614609	SMARCE1	6605	HP:0000527	Long eyelashes
OMIM:614609	SMARCE1	6605	HP:0001252	Muscular hypotonia
OMIM:614609	SMARCE1	6605	HP:0001305	Dandy-Walker malformation
OMIM:614609	SMARCE1	6605	HP:0000505	Visual impairment
OMIM:108330	CYP1A1	1543	HP:0000006	Autosomal dominant inheritance
OMIM:108330	CYP1A1	1543	HP:0002664	Neoplasm
OMIM:615722	NR2F1	7025	HP:0000543	Optic disc pallor
OMIM:615722	NR2F1	7025	HP:0000486	Strabismus
OMIM:615722	NR2F1	7025	HP:0001263	Global developmental delay
OMIM:615722	NR2F1	7025	HP:0001182	Tapered finger
OMIM:615722	NR2F1	7025	HP:0001123	Visual field defect
OMIM:615722	NR2F1	7025	HP:0000639	Nystagmus
OMIM:615722	NR2F1	7025	HP:0001249	Intellectual disability
OMIM:615722	NR2F1	7025	HP:0000006	Autosomal dominant inheritance
OMIM:615722	NR2F1	7025	HP:0000505	Visual impairment
OMIM:615722	NR2F1	7025	HP:0007663	Reduced visual acuity
OMIM:600740	AP2S1	1175	HP:0003072	Hypercalcemia
OMIM:600740	AP2S1	1175	HP:0004398	Peptic ulcer
OMIM:600740	AP2S1	1175	HP:0001733	Pancreatitis
OMIM:600740	AP2S1	1175	HP:0000934	Chondrocalcinosis
OMIM:600740	AP2S1	1175	HP:0000787	Nephrolithiasis
OMIM:613162	NT5C2	22978	HP:0000639	Nystagmus
OMIM:613162	NT5C2	22978	HP:0000007	Autosomal recessive inheritance
OMIM:613162	NT5C2	22978	HP:0001249	Intellectual disability
OMIM:613162	NT5C2	22978	HP:0001347	Hyperreflexia
OMIM:613162	NT5C2	22978	HP:0000648	Optic atrophy
OMIM:613162	NT5C2	22978	HP:0006989	Dysplastic corpus callosum
OMIM:613162	NT5C2	22978	HP:0001762	Talipes equinovarus
OMIM:613162	NT5C2	22978	HP:0001258	Spastic paraplegia
OMIM:613162	NT5C2	22978	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613162	NT5C2	22978	HP:0003487	Babinski sign
OMIM:613162	NT5C2	22978	HP:0000545	Myopia
OMIM:613162	NT5C2	22978	HP:0001270	Motor delay
OMIM:613162	NT5C2	22978	HP:0001371	Flexion contracture
OMIM:613162	NT5C2	22978	HP:0002064	Spastic gait
OMIM:265800	CTSK	1513	HP:0002793	Abnormal pattern of respiration
OMIM:265800	CTSK	1513	HP:0002757	Recurrent fractures
OMIM:265800	CTSK	1513	HP:0001231	Abnormality of the fingernails
OMIM:265800	CTSK	1513	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:265800	CTSK	1513	HP:0000269	Prominent occiput
OMIM:265800	CTSK	1513	HP:0004322	Short stature
OMIM:265800	CTSK	1513	HP:0000774	Narrow chest
OMIM:265800	CTSK	1513	HP:0001156	Brachydactyly syndrome
OMIM:265800	CTSK	1513	HP:0000272	Malar flattening
OMIM:265800	CTSK	1513	HP:0000520	Proptosis
OMIM:265800	CTSK	1513	HP:0002653	Bone pain
OMIM:265800	CTSK	1513	HP:0000670	Carious teeth
OMIM:265800	CTSK	1513	HP:0006335	Persistence of primary teeth
OMIM:265800	CTSK	1513	HP:0100543	Cognitive impairment
OMIM:265800	CTSK	1513	HP:0000696	Delayed eruption of permanent teeth
OMIM:265800	CTSK	1513	HP:0002652	Skeletal dysplasia
OMIM:265800	CTSK	1513	HP:0003307	Hyperlordosis
OMIM:265800	CTSK	1513	HP:0000007	Autosomal recessive inheritance
OMIM:265800	CTSK	1513	HP:0000680	Delayed eruption of primary teeth
OMIM:265800	CTSK	1513	HP:0000889	Abnormality of the clavicle
OMIM:265800	CTSK	1513	HP:0011001	Increased bone mineral density
OMIM:265800	CTSK	1513	HP:0002645	Wormian bones
OMIM:265800	CTSK	1513	HP:0000347	Micrognathia
OMIM:265800	CTSK	1513	HP:0000448	Prominent nose
OMIM:265800	CTSK	1513	HP:0001831	Short toe
OMIM:265800	CTSK	1513	HP:0000174	Abnormality of the palate
OMIM:265800	CTSK	1513	HP:0002007	Frontal bossing
OMIM:265800	CTSK	1513	HP:0000684	Delayed eruption of teeth
OMIM:265800	CTSK	1513	HP:0002754	Osteomyelitis
OMIM:265800	CTSK	1513	HP:0000765	Abnormality of the thorax
OMIM:265800	CTSK	1513	HP:0002797	Osteolysis
OMIM:265800	CTSK	1513	HP:0001798	Anonychia
OMIM:265800	CTSK	1513	HP:0002808	Kyphosis
OMIM:265800	CTSK	1513	HP:0006482	Abnormality of dental morphology
OMIM:265800	CTSK	1513	HP:0002650	Scoliosis
OMIM:265800	CTSK	1513	HP:0009882	Short distal phalanx of finger
OMIM:265800	CTSK	1513	HP:0000189	Narrow palate
OMIM:265800	CTSK	1513	HP:0005930	Abnormality of epiphysis morphology
OMIM:265800	CTSK	1513	HP:0000348	High forehead
OMIM:265800	CTSK	1513	HP:0002240	Hepatomegaly
OMIM:265800	CTSK	1513	HP:0000238	Hydrocephalus
OMIM:265800	CTSK	1513	HP:0000592	Blue sclerae
OMIM:265800	CTSK	1513	HP:0001744	Splenomegaly
OMIM:265800	CTSK	1513	HP:0000668	Hypodontia
OMIM:265800	CTSK	1513	HP:0001903	Anemia
OMIM:251270	TUBGCP6	85378	HP:0000340	Sloping forehead
OMIM:251270	TUBGCP6	85378	HP:0004322	Short stature
OMIM:251270	TUBGCP6	85378	HP:0001321	Cerebellar hypoplasia
OMIM:251270	TUBGCP6	85378	HP:0002059	Cerebral atrophy
OMIM:251270	TUBGCP6	85378	HP:0007703	Abnormality of retinal pigmentation
OMIM:251270	TUBGCP6	85378	HP:0000568	Microphthalmia
OMIM:251270	TUBGCP6	85378	HP:0001263	Global developmental delay
OMIM:251270	TUBGCP6	85378	HP:0000543	Optic disc pallor
OMIM:251270	TUBGCP6	85378	HP:0000007	Autosomal recessive inheritance
OMIM:251270	TUBGCP6	85378	HP:0000639	Nystagmus
OMIM:251270	TUBGCP6	85378	HP:0001250	Seizures
OMIM:251270	TUBGCP6	85378	HP:0001249	Intellectual disability
OMIM:251270	TUBGCP6	85378	HP:0000541	Retinal detachment
OMIM:251270	TUBGCP6	85378	HP:0009879	Cortical gyral simplification
OMIM:251270	TUBGCP6	85378	HP:0000556	Retinal dystrophy
OMIM:251270	TUBGCP6	85378	HP:0001000	Abnormality of skin pigmentation
OMIM:251270	TUBGCP6	85378	HP:0001302	Pachygyria
OMIM:251270	TUBGCP6	85378	HP:0000252	Microcephaly
OMIM:251270	TUBGCP6	85378	HP:0000505	Visual impairment
OMIM:251270	TUBGCP6	85378	HP:0000518	Cataract
OMIM:251270	TUBGCP4	27229	HP:0000340	Sloping forehead
OMIM:251270	TUBGCP4	27229	HP:0004322	Short stature
OMIM:251270	TUBGCP4	27229	HP:0001321	Cerebellar hypoplasia
OMIM:251270	TUBGCP4	27229	HP:0002059	Cerebral atrophy
OMIM:251270	TUBGCP4	27229	HP:0007703	Abnormality of retinal pigmentation
OMIM:251270	TUBGCP4	27229	HP:0000568	Microphthalmia
OMIM:251270	TUBGCP4	27229	HP:0001263	Global developmental delay
OMIM:251270	TUBGCP4	27229	HP:0000543	Optic disc pallor
OMIM:251270	TUBGCP4	27229	HP:0000007	Autosomal recessive inheritance
OMIM:251270	TUBGCP4	27229	HP:0000639	Nystagmus
OMIM:251270	TUBGCP4	27229	HP:0001250	Seizures
OMIM:251270	TUBGCP4	27229	HP:0001249	Intellectual disability
OMIM:251270	TUBGCP4	27229	HP:0000541	Retinal detachment
OMIM:251270	TUBGCP4	27229	HP:0009879	Cortical gyral simplification
OMIM:251270	TUBGCP4	27229	HP:0000556	Retinal dystrophy
OMIM:251270	TUBGCP4	27229	HP:0001000	Abnormality of skin pigmentation
OMIM:251270	TUBGCP4	27229	HP:0001302	Pachygyria
OMIM:251270	TUBGCP4	27229	HP:0000252	Microcephaly
OMIM:251270	TUBGCP4	27229	HP:0000505	Visual impairment
OMIM:251270	TUBGCP4	27229	HP:0000518	Cataract
OMIM:126600	CFI	3426	HP:0000006	Autosomal dominant inheritance
OMIM:126600	CFI	3426	HP:0000556	Retinal dystrophy
OMIM:126600	CFI	3426	HP:0000505	Visual impairment
OMIM:126600	CFI	3426	HP:0007937	Reticular pigmentary degeneration
OMIM:126600	CFH	3075	HP:0000006	Autosomal dominant inheritance
OMIM:126600	CFH	3075	HP:0000556	Retinal dystrophy
OMIM:126600	CFH	3075	HP:0000505	Visual impairment
OMIM:126600	CFH	3075	HP:0007937	Reticular pigmentary degeneration
OMIM:126600	EFEMP1	2202	HP:0000006	Autosomal dominant inheritance
OMIM:126600	EFEMP1	2202	HP:0000556	Retinal dystrophy
OMIM:126600	EFEMP1	2202	HP:0000505	Visual impairment
OMIM:126600	EFEMP1	2202	HP:0007937	Reticular pigmentary degeneration
OMIM:616281	GPT2	84706	HP:0001263	Global developmental delay
OMIM:616281	GPT2	84706	HP:0001249	Intellectual disability
OMIM:616281	GPT2	84706	HP:0000007	Autosomal recessive inheritance
OMIM:616281	GPT2	84706	HP:0000252	Microcephaly
OMIM:616281	GPT2	84706	HP:0001298	Encephalopathy
OMIM:616281	GPT2	84706	HP:0001344	Absent speech
OMIM:616281	GPT2	84706	HP:0001508	Failure to thrive
OMIM:616281	GPT2	84706	HP:0002069	Generalized tonic-clonic seizures
OMIM:612877	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:612877	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:612877	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:612877	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:612877	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:612877	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:612877	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:612877	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:612877	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:612877	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:612877	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:612877	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:612877	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:612877	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:612877	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:612877	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:612877	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:612877	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:612877	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:612877	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:612877	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:612877	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:612877	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:612877	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:612877	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:612877	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:612877	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:612877	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:612877	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:612877	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:612877	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:612877	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:612877	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:612877	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:612877	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:612877	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:612877	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:612877	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:612877	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:604571	B2M	567	HP:0000007	Autosomal recessive inheritance
OMIM:604571	B2M	567	HP:0200042	Skin ulcer
OMIM:604571	B2M	567	HP:0011109	Chronic sinusitis
OMIM:604571	B2M	567	HP:0002097	Emphysema
OMIM:604571	B2M	567	HP:0002837	Recurrent bronchitis
OMIM:604571	B2M	567	HP:0002110	Bronchiectasis
OMIM:604571	B2M	567	HP:0001083	Ectopia lentis
OMIM:604571	TAP1	6890	HP:0000007	Autosomal recessive inheritance
OMIM:604571	TAP1	6890	HP:0200042	Skin ulcer
OMIM:604571	TAP1	6890	HP:0011109	Chronic sinusitis
OMIM:604571	TAP1	6890	HP:0002097	Emphysema
OMIM:604571	TAP1	6890	HP:0002837	Recurrent bronchitis
OMIM:604571	TAP1	6890	HP:0002110	Bronchiectasis
OMIM:604571	TAP1	6890	HP:0001083	Ectopia lentis
OMIM:604571	TAP2	6891	HP:0000007	Autosomal recessive inheritance
OMIM:604571	TAP2	6891	HP:0200042	Skin ulcer
OMIM:604571	TAP2	6891	HP:0011109	Chronic sinusitis
OMIM:604571	TAP2	6891	HP:0002097	Emphysema
OMIM:604571	TAP2	6891	HP:0002837	Recurrent bronchitis
OMIM:604571	TAP2	6891	HP:0002110	Bronchiectasis
OMIM:604571	TAP2	6891	HP:0001083	Ectopia lentis
OMIM:604571	TAPBP	6892	HP:0000007	Autosomal recessive inheritance
OMIM:604571	TAPBP	6892	HP:0200042	Skin ulcer
OMIM:604571	TAPBP	6892	HP:0011109	Chronic sinusitis
OMIM:604571	TAPBP	6892	HP:0002097	Emphysema
OMIM:604571	TAPBP	6892	HP:0002837	Recurrent bronchitis
OMIM:604571	TAPBP	6892	HP:0002110	Bronchiectasis
OMIM:604571	TAPBP	6892	HP:0001083	Ectopia lentis
OMIM:610688	CEP41	95681	HP:0000657	Oculomotor apraxia
OMIM:610688	CEP41	95681	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	CEP41	95681	HP:0001408	Bile duct proliferation
OMIM:610688	CEP41	95681	HP:0000567	Chorioretinal coloboma
OMIM:610688	CEP41	95681	HP:0001395	Hepatic fibrosis
OMIM:610688	CEP41	95681	HP:0000007	Autosomal recessive inheritance
OMIM:610688	CEP41	95681	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	CEP41	95681	HP:0002419	Molar tooth sign on MRI
OMIM:610688	CEP41	95681	HP:0001263	Global developmental delay
OMIM:610688	CEP41	95681	HP:0000546	Retinal degeneration
OMIM:610688	CEP41	95681	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	CEP41	95681	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	CEP41	95681	HP:0000618	Blindness
OMIM:610688	CEP41	95681	HP:0000090	Nephronophthisis
OMIM:610688	CEP41	95681	HP:0001252	Muscular hypotonia
OMIM:610688	CEP41	95681	HP:0005957	Breathing dysregulation
OMIM:610688	CEP41	95681	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	CEP41	95681	HP:0001249	Intellectual disability
OMIM:610688	CEP41	95681	HP:0001251	Ataxia
OMIM:610688	C5ORF42	65250	HP:0000657	Oculomotor apraxia
OMIM:610688	C5ORF42	65250	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	C5ORF42	65250	HP:0001408	Bile duct proliferation
OMIM:610688	C5ORF42	65250	HP:0000567	Chorioretinal coloboma
OMIM:610688	C5ORF42	65250	HP:0001395	Hepatic fibrosis
OMIM:610688	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:610688	C5ORF42	65250	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	C5ORF42	65250	HP:0002419	Molar tooth sign on MRI
OMIM:610688	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:610688	C5ORF42	65250	HP:0000546	Retinal degeneration
OMIM:610688	C5ORF42	65250	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	C5ORF42	65250	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	C5ORF42	65250	HP:0000618	Blindness
OMIM:610688	C5ORF42	65250	HP:0000090	Nephronophthisis
OMIM:610688	C5ORF42	65250	HP:0001252	Muscular hypotonia
OMIM:610688	C5ORF42	65250	HP:0005957	Breathing dysregulation
OMIM:610688	C5ORF42	65250	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	C5ORF42	65250	HP:0001249	Intellectual disability
OMIM:610688	C5ORF42	65250	HP:0001251	Ataxia
OMIM:610688	B9D1	27077	HP:0000657	Oculomotor apraxia
OMIM:610688	B9D1	27077	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	B9D1	27077	HP:0001408	Bile duct proliferation
OMIM:610688	B9D1	27077	HP:0000567	Chorioretinal coloboma
OMIM:610688	B9D1	27077	HP:0001395	Hepatic fibrosis
OMIM:610688	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:610688	B9D1	27077	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	B9D1	27077	HP:0002419	Molar tooth sign on MRI
OMIM:610688	B9D1	27077	HP:0001263	Global developmental delay
OMIM:610688	B9D1	27077	HP:0000546	Retinal degeneration
OMIM:610688	B9D1	27077	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	B9D1	27077	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	B9D1	27077	HP:0000618	Blindness
OMIM:610688	B9D1	27077	HP:0000090	Nephronophthisis
OMIM:610688	B9D1	27077	HP:0001252	Muscular hypotonia
OMIM:610688	B9D1	27077	HP:0005957	Breathing dysregulation
OMIM:610688	B9D1	27077	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	B9D1	27077	HP:0001249	Intellectual disability
OMIM:610688	B9D1	27077	HP:0001251	Ataxia
OMIM:610688	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:610688	TMEM237	65062	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	TMEM237	65062	HP:0001408	Bile duct proliferation
OMIM:610688	TMEM237	65062	HP:0000567	Chorioretinal coloboma
OMIM:610688	TMEM237	65062	HP:0001395	Hepatic fibrosis
OMIM:610688	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:610688	TMEM237	65062	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:610688	TMEM237	65062	HP:0001263	Global developmental delay
OMIM:610688	TMEM237	65062	HP:0000546	Retinal degeneration
OMIM:610688	TMEM237	65062	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	TMEM237	65062	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	TMEM237	65062	HP:0000618	Blindness
OMIM:610688	TMEM237	65062	HP:0000090	Nephronophthisis
OMIM:610688	TMEM237	65062	HP:0001252	Muscular hypotonia
OMIM:610688	TMEM237	65062	HP:0005957	Breathing dysregulation
OMIM:610688	TMEM237	65062	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	TMEM237	65062	HP:0001249	Intellectual disability
OMIM:610688	TMEM237	65062	HP:0001251	Ataxia
OMIM:610688	CSPP1	79848	HP:0000657	Oculomotor apraxia
OMIM:610688	CSPP1	79848	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	CSPP1	79848	HP:0001408	Bile duct proliferation
OMIM:610688	CSPP1	79848	HP:0000567	Chorioretinal coloboma
OMIM:610688	CSPP1	79848	HP:0001395	Hepatic fibrosis
OMIM:610688	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:610688	CSPP1	79848	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	CSPP1	79848	HP:0002419	Molar tooth sign on MRI
OMIM:610688	CSPP1	79848	HP:0001263	Global developmental delay
OMIM:610688	CSPP1	79848	HP:0000546	Retinal degeneration
OMIM:610688	CSPP1	79848	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	CSPP1	79848	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	CSPP1	79848	HP:0000618	Blindness
OMIM:610688	CSPP1	79848	HP:0000090	Nephronophthisis
OMIM:610688	CSPP1	79848	HP:0001252	Muscular hypotonia
OMIM:610688	CSPP1	79848	HP:0005957	Breathing dysregulation
OMIM:610688	CSPP1	79848	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	CSPP1	79848	HP:0001249	Intellectual disability
OMIM:610688	CSPP1	79848	HP:0001251	Ataxia
OMIM:610688	TMEM67	91147	HP:0000657	Oculomotor apraxia
OMIM:610688	TMEM67	91147	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	TMEM67	91147	HP:0001408	Bile duct proliferation
OMIM:610688	TMEM67	91147	HP:0000567	Chorioretinal coloboma
OMIM:610688	TMEM67	91147	HP:0001395	Hepatic fibrosis
OMIM:610688	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:610688	TMEM67	91147	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	TMEM67	91147	HP:0002419	Molar tooth sign on MRI
OMIM:610688	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:610688	TMEM67	91147	HP:0000546	Retinal degeneration
OMIM:610688	TMEM67	91147	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	TMEM67	91147	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	TMEM67	91147	HP:0000618	Blindness
OMIM:610688	TMEM67	91147	HP:0000090	Nephronophthisis
OMIM:610688	TMEM67	91147	HP:0001252	Muscular hypotonia
OMIM:610688	TMEM67	91147	HP:0005957	Breathing dysregulation
OMIM:610688	TMEM67	91147	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	TMEM67	91147	HP:0001249	Intellectual disability
OMIM:610688	TMEM67	91147	HP:0001251	Ataxia
OMIM:610688	INPP5E	56623	HP:0000657	Oculomotor apraxia
OMIM:610688	INPP5E	56623	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	INPP5E	56623	HP:0001408	Bile duct proliferation
OMIM:610688	INPP5E	56623	HP:0000567	Chorioretinal coloboma
OMIM:610688	INPP5E	56623	HP:0001395	Hepatic fibrosis
OMIM:610688	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:610688	INPP5E	56623	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	INPP5E	56623	HP:0002419	Molar tooth sign on MRI
OMIM:610688	INPP5E	56623	HP:0001263	Global developmental delay
OMIM:610688	INPP5E	56623	HP:0000546	Retinal degeneration
OMIM:610688	INPP5E	56623	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	INPP5E	56623	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	INPP5E	56623	HP:0000618	Blindness
OMIM:610688	INPP5E	56623	HP:0000090	Nephronophthisis
OMIM:610688	INPP5E	56623	HP:0001252	Muscular hypotonia
OMIM:610688	INPP5E	56623	HP:0005957	Breathing dysregulation
OMIM:610688	INPP5E	56623	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	INPP5E	56623	HP:0001249	Intellectual disability
OMIM:610688	INPP5E	56623	HP:0001251	Ataxia
OMIM:610688	TCTN1	79600	HP:0000657	Oculomotor apraxia
OMIM:610688	TCTN1	79600	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	TCTN1	79600	HP:0001408	Bile duct proliferation
OMIM:610688	TCTN1	79600	HP:0000567	Chorioretinal coloboma
OMIM:610688	TCTN1	79600	HP:0001395	Hepatic fibrosis
OMIM:610688	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:610688	TCTN1	79600	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	TCTN1	79600	HP:0002419	Molar tooth sign on MRI
OMIM:610688	TCTN1	79600	HP:0001263	Global developmental delay
OMIM:610688	TCTN1	79600	HP:0000546	Retinal degeneration
OMIM:610688	TCTN1	79600	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	TCTN1	79600	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	TCTN1	79600	HP:0000618	Blindness
OMIM:610688	TCTN1	79600	HP:0000090	Nephronophthisis
OMIM:610688	TCTN1	79600	HP:0001252	Muscular hypotonia
OMIM:610688	TCTN1	79600	HP:0005957	Breathing dysregulation
OMIM:610688	TCTN1	79600	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	TCTN1	79600	HP:0001249	Intellectual disability
OMIM:610688	TCTN1	79600	HP:0001251	Ataxia
OMIM:610688	AHI1	54806	HP:0000657	Oculomotor apraxia
OMIM:610688	AHI1	54806	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	AHI1	54806	HP:0001408	Bile duct proliferation
OMIM:610688	AHI1	54806	HP:0000567	Chorioretinal coloboma
OMIM:610688	AHI1	54806	HP:0001395	Hepatic fibrosis
OMIM:610688	AHI1	54806	HP:0000007	Autosomal recessive inheritance
OMIM:610688	AHI1	54806	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	AHI1	54806	HP:0002419	Molar tooth sign on MRI
OMIM:610688	AHI1	54806	HP:0001263	Global developmental delay
OMIM:610688	AHI1	54806	HP:0000546	Retinal degeneration
OMIM:610688	AHI1	54806	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	AHI1	54806	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	AHI1	54806	HP:0000618	Blindness
OMIM:610688	AHI1	54806	HP:0000090	Nephronophthisis
OMIM:610688	AHI1	54806	HP:0001252	Muscular hypotonia
OMIM:610688	AHI1	54806	HP:0005957	Breathing dysregulation
OMIM:610688	AHI1	54806	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	AHI1	54806	HP:0001249	Intellectual disability
OMIM:610688	AHI1	54806	HP:0001251	Ataxia
OMIM:610688	MKS1	54903	HP:0000657	Oculomotor apraxia
OMIM:610688	MKS1	54903	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	MKS1	54903	HP:0001408	Bile duct proliferation
OMIM:610688	MKS1	54903	HP:0000567	Chorioretinal coloboma
OMIM:610688	MKS1	54903	HP:0001395	Hepatic fibrosis
OMIM:610688	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:610688	MKS1	54903	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	MKS1	54903	HP:0002419	Molar tooth sign on MRI
OMIM:610688	MKS1	54903	HP:0001263	Global developmental delay
OMIM:610688	MKS1	54903	HP:0000546	Retinal degeneration
OMIM:610688	MKS1	54903	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	MKS1	54903	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	MKS1	54903	HP:0000618	Blindness
OMIM:610688	MKS1	54903	HP:0000090	Nephronophthisis
OMIM:610688	MKS1	54903	HP:0001252	Muscular hypotonia
OMIM:610688	MKS1	54903	HP:0005957	Breathing dysregulation
OMIM:610688	MKS1	54903	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	MKS1	54903	HP:0001249	Intellectual disability
OMIM:610688	MKS1	54903	HP:0001251	Ataxia
OMIM:610688	TCTN2	79867	HP:0000657	Oculomotor apraxia
OMIM:610688	TCTN2	79867	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	TCTN2	79867	HP:0001408	Bile duct proliferation
OMIM:610688	TCTN2	79867	HP:0000567	Chorioretinal coloboma
OMIM:610688	TCTN2	79867	HP:0001395	Hepatic fibrosis
OMIM:610688	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:610688	TCTN2	79867	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	TCTN2	79867	HP:0002419	Molar tooth sign on MRI
OMIM:610688	TCTN2	79867	HP:0001263	Global developmental delay
OMIM:610688	TCTN2	79867	HP:0000546	Retinal degeneration
OMIM:610688	TCTN2	79867	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	TCTN2	79867	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	TCTN2	79867	HP:0000618	Blindness
OMIM:610688	TCTN2	79867	HP:0000090	Nephronophthisis
OMIM:610688	TCTN2	79867	HP:0001252	Muscular hypotonia
OMIM:610688	TCTN2	79867	HP:0005957	Breathing dysregulation
OMIM:610688	TCTN2	79867	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	TCTN2	79867	HP:0001249	Intellectual disability
OMIM:610688	TCTN2	79867	HP:0001251	Ataxia
OMIM:610688	KIAA0586	9786	HP:0000657	Oculomotor apraxia
OMIM:610688	KIAA0586	9786	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	KIAA0586	9786	HP:0001408	Bile duct proliferation
OMIM:610688	KIAA0586	9786	HP:0000567	Chorioretinal coloboma
OMIM:610688	KIAA0586	9786	HP:0001395	Hepatic fibrosis
OMIM:610688	KIAA0586	9786	HP:0000007	Autosomal recessive inheritance
OMIM:610688	KIAA0586	9786	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	KIAA0586	9786	HP:0002419	Molar tooth sign on MRI
OMIM:610688	KIAA0586	9786	HP:0001263	Global developmental delay
OMIM:610688	KIAA0586	9786	HP:0000546	Retinal degeneration
OMIM:610688	KIAA0586	9786	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	KIAA0586	9786	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	KIAA0586	9786	HP:0000618	Blindness
OMIM:610688	KIAA0586	9786	HP:0000090	Nephronophthisis
OMIM:610688	KIAA0586	9786	HP:0001252	Muscular hypotonia
OMIM:610688	KIAA0586	9786	HP:0005957	Breathing dysregulation
OMIM:610688	KIAA0586	9786	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	KIAA0586	9786	HP:0001249	Intellectual disability
OMIM:610688	KIAA0586	9786	HP:0001251	Ataxia
OMIM:610688	ARL13B	200894	HP:0000657	Oculomotor apraxia
OMIM:610688	ARL13B	200894	HP:0003774	Stage 5 chronic kidney disease
OMIM:610688	ARL13B	200894	HP:0001408	Bile duct proliferation
OMIM:610688	ARL13B	200894	HP:0000567	Chorioretinal coloboma
OMIM:610688	ARL13B	200894	HP:0001395	Hepatic fibrosis
OMIM:610688	ARL13B	200894	HP:0000007	Autosomal recessive inheritance
OMIM:610688	ARL13B	200894	HP:0001320	Cerebellar vermis hypoplasia
OMIM:610688	ARL13B	200894	HP:0002419	Molar tooth sign on MRI
OMIM:610688	ARL13B	200894	HP:0001263	Global developmental delay
OMIM:610688	ARL13B	200894	HP:0000546	Retinal degeneration
OMIM:610688	ARL13B	200894	HP:0011933	Elongated superior cerebellar peduncle
OMIM:610688	ARL13B	200894	HP:0002404	Thickened superior cerebellar peduncle
OMIM:610688	ARL13B	200894	HP:0000618	Blindness
OMIM:610688	ARL13B	200894	HP:0000090	Nephronophthisis
OMIM:610688	ARL13B	200894	HP:0001252	Muscular hypotonia
OMIM:610688	ARL13B	200894	HP:0005957	Breathing dysregulation
OMIM:610688	ARL13B	200894	HP:0100951	Enlarged fossa interpeduncularis
OMIM:610688	ARL13B	200894	HP:0001249	Intellectual disability
OMIM:610688	ARL13B	200894	HP:0001251	Ataxia
OMIM:615033	DDHD2	23259	HP:0003487	Babinski sign
OMIM:615033	DDHD2	23259	HP:0000218	High palate
OMIM:615033	DDHD2	23259	HP:0000020	Urinary incontinence
OMIM:615033	DDHD2	23259	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615033	DDHD2	23259	HP:0007340	Lower limb muscle weakness
OMIM:615033	DDHD2	23259	HP:0001258	Spastic paraplegia
OMIM:615033	DDHD2	23259	HP:0002019	Constipation
OMIM:615033	DDHD2	23259	HP:0002518	Abnormality of the periventricular white matter
OMIM:615033	DDHD2	23259	HP:0002607	Bowel incontinence
OMIM:615033	DDHD2	23259	HP:0002015	Dysphagia
OMIM:615033	DDHD2	23259	HP:0003676	Progressive
OMIM:615033	DDHD2	23259	HP:0001260	Dysarthria
OMIM:615033	DDHD2	23259	HP:0000506	Telecanthus
OMIM:615033	DDHD2	23259	HP:0000609	Optic nerve hypoplasia
OMIM:615033	DDHD2	23259	HP:0004322	Short stature
OMIM:615033	DDHD2	23259	HP:0000007	Autosomal recessive inheritance
OMIM:615033	DDHD2	23259	HP:0000486	Strabismus
OMIM:615033	DDHD2	23259	HP:0001263	Global developmental delay
OMIM:615033	DDHD2	23259	HP:0001347	Hyperreflexia
OMIM:615033	DDHD2	23259	HP:0001249	Intellectual disability
OMIM:106190	ITPR2	3709	HP:0000970	Anhidrosis
OMIM:106190	ITPR2	3709	HP:0000006	Autosomal dominant inheritance
OMIM:616165	LMOD3	56203	HP:0001561	Polyhydramnios
OMIM:616165	LMOD3	56203	HP:0001622	Premature birth
OMIM:616165	LMOD3	56203	HP:0006829	Severe muscular hypotonia
OMIM:616165	LMOD3	56203	HP:0003202	Skeletal muscle atrophy
OMIM:616165	LMOD3	56203	HP:0001283	Bulbar palsy
OMIM:616165	LMOD3	56203	HP:0010628	Facial palsy
OMIM:616165	LMOD3	56203	HP:0001558	Decreased fetal movement
OMIM:616165	LMOD3	56203	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:616165	LMOD3	56203	HP:0000602	Ophthalmoplegia
OMIM:616165	LMOD3	56203	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:239	DYM	54808	HP:0000252	Microcephaly
ORPHANET:239	DYM	54808	HP:0009826	Limb undergrowth
ORPHANET:239	DYM	54808	HP:0000340	Sloping forehead
ORPHANET:239	DYM	54808	HP:0100543	Cognitive impairment
ORPHANET:239	DYM	54808	HP:0003311	Hypoplasia of the odontoid process
ORPHANET:239	DYM	54808	HP:0000768	Pectus carinatum
ORPHANET:239	DYM	54808	HP:0000926	Platyspondyly
ORPHANET:239	DYM	54808	HP:0001376	Limitation of joint mobility
ORPHANET:239	DYM	54808	HP:0002650	Scoliosis
ORPHANET:239	DYM	54808	HP:0003019	Abnormality of the wrist
ORPHANET:239	DYM	54808	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:239	DYM	54808	HP:0000470	Short neck
ORPHANET:239	DYM	54808	HP:0003272	Abnormality of the hip bone
ORPHANET:239	DYM	54808	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:239	DYM	54808	HP:0010306	Short thorax
ORPHANET:239	DYM	54808	HP:0000280	Coarse facial features
ORPHANET:239	DYM	54808	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:239	DYM	54808	HP:0002652	Skeletal dysplasia
ORPHANET:239	DYM	54808	HP:0002857	Genu valgum
ORPHANET:239	DYM	54808	HP:0003307	Hyperlordosis
ORPHANET:239	DYM	54808	HP:0000717	Autism
ORPHANET:239	DYM	54808	HP:0002808	Kyphosis
ORPHANET:239	DYM	54808	HP:0000944	Abnormality of the metaphyses
ORPHANET:239	DYM	54808	HP:0004322	Short stature
ORPHANET:239	DYM	54808	HP:0002167	Neurological speech impairment
ORPHANET:239	DYM	54808	HP:0003416	Spinal canal stenosis
OMIM:609227	MYO5A	4644	HP:0002227	White eyelashes
OMIM:609227	MYO5A	4644	HP:0000007	Autosomal recessive inheritance
OMIM:609227	MYO5A	4644	HP:0007513	Generalized hypopigmentation
OMIM:609227	MYO5A	4644	HP:0001425	Heterogeneous
OMIM:609227	MYO5A	4644	HP:0001107	Ocular albinism
OMIM:609227	MLPH	79083	HP:0002227	White eyelashes
OMIM:609227	MLPH	79083	HP:0000007	Autosomal recessive inheritance
OMIM:609227	MLPH	79083	HP:0007513	Generalized hypopigmentation
OMIM:609227	MLPH	79083	HP:0001425	Heterogeneous
OMIM:609227	MLPH	79083	HP:0001107	Ocular albinism
OMIM:280000	PIGL	9487	HP:0002797	Osteolysis
OMIM:280000	PIGL	9487	HP:0000179	Thick lower lip vermilion
OMIM:280000	PIGL	9487	HP:0000465	Webbed neck
OMIM:280000	PIGL	9487	HP:0000316	Hypertelorism
OMIM:280000	PIGL	9487	HP:0100543	Cognitive impairment
OMIM:280000	PIGL	9487	HP:0000286	Epicanthus
OMIM:280000	PIGL	9487	HP:0000480	Retinal coloboma
OMIM:280000	PIGL	9487	HP:0000126	Hydronephrosis
OMIM:280000	PIGL	9487	HP:0005280	Depressed nasal bridge
OMIM:280000	PIGL	9487	HP:0000508	Ptosis
OMIM:280000	PIGL	9487	HP:0001831	Short toe
OMIM:280000	PIGL	9487	HP:0009473	Joint contracture of the hand
OMIM:280000	PIGL	9487	HP:0001636	Tetralogy of Fallot
OMIM:280000	PIGL	9487	HP:0000717	Autism
OMIM:280000	PIGL	9487	HP:0001629	Ventricular septal defect
OMIM:280000	PIGL	9487	HP:0001669	Transposition of the great arteries
OMIM:280000	PIGL	9487	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:280000	PIGL	9487	HP:0001833	Long foot
OMIM:280000	PIGL	9487	HP:0200042	Skin ulcer
OMIM:280000	PIGL	9487	HP:0008070	Sparse hair
OMIM:280000	PIGL	9487	HP:0000322	Short philtrum
OMIM:280000	PIGL	9487	HP:0009804	Reduced number of teeth
OMIM:280000	PIGL	9487	HP:0000691	Microdontia
OMIM:280000	PIGL	9487	HP:0001250	Seizures
OMIM:280000	PIGL	9487	HP:0000154	Wide mouth
OMIM:280000	PIGL	9487	HP:0000077	Abnormality of the kidney
OMIM:280000	PIGL	9487	HP:0007759	Opacification of the corneal stroma
OMIM:280000	PIGL	9487	HP:0000405	Conductive hearing impairment
OMIM:280000	PIGL	9487	HP:0000486	Strabismus
OMIM:280000	PIGL	9487	HP:0000567	Chorioretinal coloboma
OMIM:280000	PIGL	9487	HP:0003272	Abnormality of the hip bone
OMIM:280000	PIGL	9487	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:280000	PIGL	9487	HP:0001176	Large hands
OMIM:280000	PIGL	9487	HP:0011362	Abnormal hair quantity
OMIM:280000	PIGL	9487	HP:0001156	Brachydactyly syndrome
OMIM:280000	PIGL	9487	HP:0000687	Widely spaced teeth
OMIM:280000	PIGL	9487	HP:0004209	Clinodactyly of the 5th finger
OMIM:280000	PIGL	9487	HP:0007477	Abnormal dermatoglyphics
OMIM:280000	PIGL	9487	HP:0000889	Abnormality of the clavicle
OMIM:280000	PIGL	9487	HP:0002059	Cerebral atrophy
OMIM:280000	PIGL	9487	HP:0006721	Acute lymphoblastic leukemia
OMIM:280000	PIGL	9487	HP:0000007	Autosomal recessive inheritance
OMIM:280000	PIGL	9487	HP:0000248	Brachycephaly
OMIM:280000	PIGL	9487	HP:0000582	Upslanted palpebral fissure
OMIM:280000	PIGL	9487	HP:0002648	Abnormality of calvarial morphology
OMIM:280000	PIGL	9487	HP:0000962	Hyperkeratosis
OMIM:280000	PIGL	9487	HP:0002007	Frontal bossing
OMIM:280000	PIGL	9487	HP:0005930	Abnormality of epiphysis morphology
OMIM:280000	PIGL	9487	HP:0001252	Muscular hypotonia
OMIM:280000	PIGL	9487	HP:0000175	Cleft palate
OMIM:280000	PIGL	9487	HP:0011220	Prominent forehead
OMIM:280000	PIGL	9487	HP:0000431	Wide nasal bridge
OMIM:280000	PIGL	9487	HP:0100760	Clubbing of toes
OMIM:280000	PIGL	9487	HP:0002557	Hypoplastic nipples
OMIM:280000	PIGL	9487	HP:0002120	Cerebral cortical atrophy
OMIM:280000	PIGL	9487	HP:0002488	Acute leukemia
OMIM:280000	PIGL	9487	HP:0000098	Tall stature
OMIM:280000	PIGL	9487	HP:0002213	Fine hair
OMIM:280000	PIGL	9487	HP:0008572	External ear malformation
OMIM:280000	PIGL	9487	HP:0000396	Overfolded helix
OMIM:280000	PIGL	9487	HP:0000457	Depressed nasal ridge
OMIM:280000	PIGL	9487	HP:0001249	Intellectual disability
OMIM:280000	PIGL	9487	HP:0000081	Duplicated collecting system
OMIM:280000	PIGL	9487	HP:0008064	Ichthyosis
OMIM:280000	PIGL	9487	HP:0000365	Hearing impairment
OMIM:280000	PIGL	9487	HP:0001641	Abnormality of the pulmonary valve
OMIM:608645	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:608645	DIAPH1	1729	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:608645	CEACAM16	388551	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:608645	SLC17A8	246213	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:608645	TJP2	9414	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:608645	ACTG1	71	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:608645	CCDC50	152137	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:608645	MIR96	407053	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:608645	GJB2	2706	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:608645	POU4F3	5459	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:608645	GJB3	2707	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:608645	MYH9	4627	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:608645	CRYM	1428	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:608645	COL11A2	1302	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:608645	EYA4	2070	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:608645	DFNA5	1687	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:608645	DIAPH3	81624	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:608645	TMC1	117531	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:608645	COCH	1690	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:608645	OSBPL2	9885	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:608645	SIX1	6495	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:608645	TECTA	7007	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:608645	MYO1A	4640	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:608645	MYO1C	4641	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:608645	MYO6	4646	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:608645	MYO7A	4647	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:608645	GRHL2	79977	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:608645	DIABLO	56616	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:608645	MYH14	79784	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:608645	P2RX2	22953	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:608645	WFS1	7466	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:608645	TNC	3371	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:608645	KCNQ4	9132	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:608645	HOMER2	9455	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:608645	GJB6	10804	HP:0040113	Old-aged sensorineural hearing impairment
OMIM:608645	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:608645	TBC1D24	57465	HP:0040113	Old-aged sensorineural hearing impairment
ORPHANET:1810	EDAR	10913	HP:0000958	Dry skin
ORPHANET:1810	EDAR	10913	HP:0000179	Thick lower lip vermilion
ORPHANET:1810	EDAR	10913	HP:0000964	Eczema
ORPHANET:1810	EDAR	10913	HP:0000963	Thin skin
ORPHANET:1810	EDAR	10913	HP:0001231	Abnormality of the fingernails
ORPHANET:1810	EDAR	10913	HP:0000457	Depressed nasal ridge
ORPHANET:1810	EDAR	10913	HP:0011362	Abnormal hair quantity
ORPHANET:1810	EDAR	10913	HP:0000966	Hypohidrosis
ORPHANET:1810	EDAR	10913	HP:0009804	Reduced number of teeth
ORPHANET:1810	EDAR	10913	HP:0001000	Abnormality of skin pigmentation
ORPHANET:1810	EDAR	10913	HP:0006482	Abnormality of dental morphology
ORPHANET:1810	EDAR	10913	HP:0002007	Frontal bossing
ORPHANET:1810	EDAR	10913	HP:0000704	Periodontitis
ORPHANET:1810	EDARADD	128178	HP:0000958	Dry skin
ORPHANET:1810	EDARADD	128178	HP:0000179	Thick lower lip vermilion
ORPHANET:1810	EDARADD	128178	HP:0000964	Eczema
ORPHANET:1810	EDARADD	128178	HP:0000963	Thin skin
ORPHANET:1810	EDARADD	128178	HP:0001231	Abnormality of the fingernails
ORPHANET:1810	EDARADD	128178	HP:0000457	Depressed nasal ridge
ORPHANET:1810	EDARADD	128178	HP:0011362	Abnormal hair quantity
ORPHANET:1810	EDARADD	128178	HP:0000966	Hypohidrosis
ORPHANET:1810	EDARADD	128178	HP:0009804	Reduced number of teeth
ORPHANET:1810	EDARADD	128178	HP:0001000	Abnormality of skin pigmentation
ORPHANET:1810	EDARADD	128178	HP:0006482	Abnormality of dental morphology
ORPHANET:1810	EDARADD	128178	HP:0002007	Frontal bossing
ORPHANET:1810	EDARADD	128178	HP:0000704	Periodontitis
ORPHANET:1810	TRAF6	7189	HP:0000958	Dry skin
ORPHANET:1810	TRAF6	7189	HP:0000179	Thick lower lip vermilion
ORPHANET:1810	TRAF6	7189	HP:0000964	Eczema
ORPHANET:1810	TRAF6	7189	HP:0000963	Thin skin
ORPHANET:1810	TRAF6	7189	HP:0001231	Abnormality of the fingernails
ORPHANET:1810	TRAF6	7189	HP:0000457	Depressed nasal ridge
ORPHANET:1810	TRAF6	7189	HP:0011362	Abnormal hair quantity
ORPHANET:1810	TRAF6	7189	HP:0000966	Hypohidrosis
ORPHANET:1810	TRAF6	7189	HP:0009804	Reduced number of teeth
ORPHANET:1810	TRAF6	7189	HP:0001000	Abnormality of skin pigmentation
ORPHANET:1810	TRAF6	7189	HP:0006482	Abnormality of dental morphology
ORPHANET:1810	TRAF6	7189	HP:0002007	Frontal bossing
ORPHANET:1810	TRAF6	7189	HP:0000704	Periodontitis
OMIM:127400	ADAR	103	HP:0001034	Hypermelanotic macule
OMIM:127400	ADAR	103	HP:0000006	Autosomal dominant inheritance
OMIM:127400	ADAR	103	HP:0003593	Infantile onset
OMIM:127400	ADAR	103	HP:0001053	Hypopigmented skin patches
OMIM:614869	PCDH15	65217	HP:0001270	Motor delay
OMIM:614869	PCDH15	65217	HP:0003577	Congenital onset
OMIM:614869	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:614869	PCDH15	65217	HP:0001751	Vestibular dysfunction
OMIM:614869	PCDH15	65217	HP:0000510	Rod-cone dystrophy
OMIM:614869	USH1C	10083	HP:0001270	Motor delay
OMIM:614869	USH1C	10083	HP:0003577	Congenital onset
OMIM:614869	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:614869	USH1C	10083	HP:0001751	Vestibular dysfunction
OMIM:614869	USH1C	10083	HP:0000510	Rod-cone dystrophy
OMIM:614869	CIB2	10518	HP:0001270	Motor delay
OMIM:614869	CIB2	10518	HP:0003577	Congenital onset
OMIM:614869	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614869	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:614869	CIB2	10518	HP:0000510	Rod-cone dystrophy
OMIM:614869	MYO7A	4647	HP:0001270	Motor delay
OMIM:614869	MYO7A	4647	HP:0003577	Congenital onset
OMIM:614869	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:614869	MYO7A	4647	HP:0001751	Vestibular dysfunction
OMIM:614869	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:614869	CDH23	64072	HP:0001270	Motor delay
OMIM:614869	CDH23	64072	HP:0003577	Congenital onset
OMIM:614869	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:614869	CDH23	64072	HP:0001751	Vestibular dysfunction
OMIM:614869	CDH23	64072	HP:0000510	Rod-cone dystrophy
OMIM:614869	USH1G	124590	HP:0001270	Motor delay
OMIM:614869	USH1G	124590	HP:0003577	Congenital onset
OMIM:614869	USH1G	124590	HP:0000007	Autosomal recessive inheritance
OMIM:614869	USH1G	124590	HP:0001751	Vestibular dysfunction
OMIM:614869	USH1G	124590	HP:0000510	Rod-cone dystrophy
ORPHANET:2710	GJA1	2697	HP:0000639	Nystagmus
ORPHANET:2710	GJA1	2697	HP:0000430	Underdeveloped nasal alae
ORPHANET:2710	GJA1	2697	HP:0002514	Cerebral calcification
ORPHANET:2710	GJA1	2697	HP:0000161	Median cleft lip
ORPHANET:2710	GJA1	2697	HP:0000889	Abnormality of the clavicle
ORPHANET:2710	GJA1	2697	HP:0001629	Ventricular septal defect
ORPHANET:2710	GJA1	2697	HP:0004493	Craniofacial hyperostosis
ORPHANET:2710	GJA1	2697	HP:0000944	Abnormality of the metaphyses
ORPHANET:2710	GJA1	2697	HP:0003196	Short nose
ORPHANET:2710	GJA1	2697	HP:0000486	Strabismus
ORPHANET:2710	GJA1	2697	HP:0000490	Deeply set eye
ORPHANET:2710	GJA1	2697	HP:0000648	Optic atrophy
ORPHANET:2710	GJA1	2697	HP:0001231	Abnormality of the fingernails
ORPHANET:2710	GJA1	2697	HP:0002167	Neurological speech impairment
ORPHANET:2710	GJA1	2697	HP:0001276	Hypertonia
ORPHANET:2710	GJA1	2697	HP:0001770	Toe syndactyly
ORPHANET:2710	GJA1	2697	HP:0000316	Hypertelorism
ORPHANET:2710	GJA1	2697	HP:0002217	Slow-growing hair
ORPHANET:2710	GJA1	2697	HP:0001324	Muscle weakness
ORPHANET:2710	GJA1	2697	HP:0002213	Fine hair
ORPHANET:2710	GJA1	2697	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:2710	GJA1	2697	HP:0008572	External ear malformation
ORPHANET:2710	GJA1	2697	HP:0000175	Cleft palate
ORPHANET:2710	GJA1	2697	HP:0000303	Mandibular prognathia
ORPHANET:2710	GJA1	2697	HP:0000545	Myopia
ORPHANET:2710	GJA1	2697	HP:0000079	Abnormality of the urinary system
ORPHANET:2710	GJA1	2697	HP:0000982	Palmoplantar keratoderma
ORPHANET:2710	GJA1	2697	HP:0000405	Conductive hearing impairment
ORPHANET:2710	GJA1	2697	HP:0000501	Glaucoma
ORPHANET:2710	GJA1	2697	HP:0002311	Incoordination
ORPHANET:2710	GJA1	2697	HP:0000679	Taurodontia
ORPHANET:2710	GJA1	2697	HP:0000482	Microcornea
ORPHANET:2710	GJA1	2697	HP:0100543	Cognitive impairment
ORPHANET:2710	GJA1	2697	HP:0006101	Finger syndactyly
ORPHANET:2710	GJA1	2697	HP:0000446	Narrow nasal bridge
ORPHANET:2710	GJA1	2697	HP:0100490	Camptodactyly of finger
ORPHANET:2710	GJA1	2697	HP:0001156	Brachydactyly syndrome
ORPHANET:2710	GJA1	2697	HP:0000518	Cataract
ORPHANET:2710	GJA1	2697	HP:0003103	Abnormal cortical bone morphology
ORPHANET:2710	GJA1	2697	HP:0010109	Short hallux
ORPHANET:2710	GJA1	2697	HP:0100335	Non-midline cleft lip
ORPHANET:2710	GJA1	2697	HP:0010761	Broad columella
ORPHANET:2710	GJA1	2697	HP:0000348	High forehead
ORPHANET:2710	GJA1	2697	HP:0001177	Preaxial hand polydactyly
ORPHANET:2710	GJA1	2697	HP:0000670	Carious teeth
ORPHANET:2710	GJA1	2697	HP:0001537	Umbilical hernia
ORPHANET:2710	GJA1	2697	HP:0000347	Micrognathia
ORPHANET:2710	GJA1	2697	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2710	GJA1	2697	HP:0000581	Blepharophimosis
ORPHANET:2710	GJA1	2697	HP:0011362	Abnormal hair quantity
ORPHANET:2710	GJA1	2697	HP:0001943	Hypoglycemia
ORPHANET:2710	GJA1	2697	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:2710	GJA1	2697	HP:0011675	Arrhythmia
ORPHANET:2710	GJA1	2697	HP:0000682	Abnormality of dental enamel
ORPHANET:2710	GJA1	2697	HP:0000540	Hypermetropia
ORPHANET:2710	GJA1	2697	HP:0000582	Upslanted palpebral fissure
ORPHANET:2710	GJA1	2697	HP:0009804	Reduced number of teeth
ORPHANET:2710	GJA1	2697	HP:0000601	Hypotelorism
ORPHANET:2710	GJA1	2697	HP:0000463	Anteverted nares
ORPHANET:2710	GJA1	2697	HP:0000505	Visual impairment
ORPHANET:2710	GJA1	2697	HP:0001347	Hyperreflexia
ORPHANET:2710	GJA1	2697	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:2710	GJA1	2697	HP:0003067	Madelung deformity
ORPHANET:2710	GJA1	2697	HP:0000940	Abnormal diaphysis morphology
ORPHANET:2710	GJA1	2697	HP:0001250	Seizures
ORPHANET:2710	GJA1	2697	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2710	GJA1	2697	HP:0001288	Gait disturbance
ORPHANET:2710	GJA1	2697	HP:0000286	Epicanthus
OMIM:612666	DSTYK	25778	HP:0000076	Vesicoureteral reflux
OMIM:612666	DSTYK	25778	HP:0000006	Autosomal dominant inheritance
OMIM:612666	DSTYK	25778	HP:0000089	Renal hypoplasia
ORPHANET:3318	MPL	4352	HP:0002488	Acute leukemia
ORPHANET:3318	MPL	4352	HP:0001744	Splenomegaly
ORPHANET:3318	MPL	4352	HP:0100576	Amaurosis fugax
ORPHANET:3318	MPL	4352	HP:0100749	Chest pain
ORPHANET:3318	MPL	4352	HP:0001928	Abnormality of coagulation
ORPHANET:3318	MPL	4352	HP:0001872	Abnormality of thrombocytes
ORPHANET:3318	MPL	4352	HP:0005561	Abnormality of bone marrow cell morphology
ORPHANET:3318	MPL	4352	HP:0003401	Paresthesia
ORPHANET:3318	MPL	4352	HP:0002637	Cerebral ischemia
ORPHANET:3318	MPL	4352	HP:0004418	Thrombophlebitis
ORPHANET:3318	MPL	4352	HP:0004420	Arterial thrombosis
ORPHANET:3318	MPL	4352	HP:0002863	Myelodysplasia
ORPHANET:3318	MPL	4352	HP:0001677	Coronary artery disease
ORPHANET:3318	SH2B3	10019	HP:0002488	Acute leukemia
ORPHANET:3318	SH2B3	10019	HP:0001744	Splenomegaly
ORPHANET:3318	SH2B3	10019	HP:0100576	Amaurosis fugax
ORPHANET:3318	SH2B3	10019	HP:0100749	Chest pain
ORPHANET:3318	SH2B3	10019	HP:0001928	Abnormality of coagulation
ORPHANET:3318	SH2B3	10019	HP:0001872	Abnormality of thrombocytes
ORPHANET:3318	SH2B3	10019	HP:0005561	Abnormality of bone marrow cell morphology
ORPHANET:3318	SH2B3	10019	HP:0003401	Paresthesia
ORPHANET:3318	SH2B3	10019	HP:0002637	Cerebral ischemia
ORPHANET:3318	SH2B3	10019	HP:0004418	Thrombophlebitis
ORPHANET:3318	SH2B3	10019	HP:0004420	Arterial thrombosis
ORPHANET:3318	SH2B3	10019	HP:0002863	Myelodysplasia
ORPHANET:3318	SH2B3	10019	HP:0001677	Coronary artery disease
ORPHANET:3318	TP53	7157	HP:0002488	Acute leukemia
ORPHANET:3318	TP53	7157	HP:0001744	Splenomegaly
ORPHANET:3318	TP53	7157	HP:0100576	Amaurosis fugax
ORPHANET:3318	TP53	7157	HP:0100749	Chest pain
ORPHANET:3318	TP53	7157	HP:0001928	Abnormality of coagulation
ORPHANET:3318	TP53	7157	HP:0001872	Abnormality of thrombocytes
ORPHANET:3318	TP53	7157	HP:0005561	Abnormality of bone marrow cell morphology
ORPHANET:3318	TP53	7157	HP:0003401	Paresthesia
ORPHANET:3318	TP53	7157	HP:0002637	Cerebral ischemia
ORPHANET:3318	TP53	7157	HP:0004418	Thrombophlebitis
ORPHANET:3318	TP53	7157	HP:0004420	Arterial thrombosis
ORPHANET:3318	TP53	7157	HP:0002863	Myelodysplasia
ORPHANET:3318	TP53	7157	HP:0001677	Coronary artery disease
ORPHANET:3318	JAK2	3717	HP:0002488	Acute leukemia
ORPHANET:3318	JAK2	3717	HP:0001744	Splenomegaly
ORPHANET:3318	JAK2	3717	HP:0100576	Amaurosis fugax
ORPHANET:3318	JAK2	3717	HP:0100749	Chest pain
ORPHANET:3318	JAK2	3717	HP:0001928	Abnormality of coagulation
ORPHANET:3318	JAK2	3717	HP:0001872	Abnormality of thrombocytes
ORPHANET:3318	JAK2	3717	HP:0005561	Abnormality of bone marrow cell morphology
ORPHANET:3318	JAK2	3717	HP:0003401	Paresthesia
ORPHANET:3318	JAK2	3717	HP:0002637	Cerebral ischemia
ORPHANET:3318	JAK2	3717	HP:0004418	Thrombophlebitis
ORPHANET:3318	JAK2	3717	HP:0004420	Arterial thrombosis
ORPHANET:3318	JAK2	3717	HP:0002863	Myelodysplasia
ORPHANET:3318	JAK2	3717	HP:0001677	Coronary artery disease
ORPHANET:3318	TET2	54790	HP:0002488	Acute leukemia
ORPHANET:3318	TET2	54790	HP:0001744	Splenomegaly
ORPHANET:3318	TET2	54790	HP:0100576	Amaurosis fugax
ORPHANET:3318	TET2	54790	HP:0100749	Chest pain
ORPHANET:3318	TET2	54790	HP:0001928	Abnormality of coagulation
ORPHANET:3318	TET2	54790	HP:0001872	Abnormality of thrombocytes
ORPHANET:3318	TET2	54790	HP:0005561	Abnormality of bone marrow cell morphology
ORPHANET:3318	TET2	54790	HP:0003401	Paresthesia
ORPHANET:3318	TET2	54790	HP:0002637	Cerebral ischemia
ORPHANET:3318	TET2	54790	HP:0004418	Thrombophlebitis
ORPHANET:3318	TET2	54790	HP:0004420	Arterial thrombosis
ORPHANET:3318	TET2	54790	HP:0002863	Myelodysplasia
ORPHANET:3318	TET2	54790	HP:0001677	Coronary artery disease
ORPHANET:3318	CALR	811	HP:0002488	Acute leukemia
ORPHANET:3318	CALR	811	HP:0001744	Splenomegaly
ORPHANET:3318	CALR	811	HP:0100576	Amaurosis fugax
ORPHANET:3318	CALR	811	HP:0100749	Chest pain
ORPHANET:3318	CALR	811	HP:0001928	Abnormality of coagulation
ORPHANET:3318	CALR	811	HP:0001872	Abnormality of thrombocytes
ORPHANET:3318	CALR	811	HP:0005561	Abnormality of bone marrow cell morphology
ORPHANET:3318	CALR	811	HP:0003401	Paresthesia
ORPHANET:3318	CALR	811	HP:0002637	Cerebral ischemia
ORPHANET:3318	CALR	811	HP:0004418	Thrombophlebitis
ORPHANET:3318	CALR	811	HP:0004420	Arterial thrombosis
ORPHANET:3318	CALR	811	HP:0002863	Myelodysplasia
ORPHANET:3318	CALR	811	HP:0001677	Coronary artery disease
OMIM:615989	MKKS	8195	HP:0000077	Abnormality of the kidney
OMIM:615989	MKKS	8195	HP:0100543	Cognitive impairment
OMIM:615989	MKKS	8195	HP:0010442	Polydactyly
OMIM:615989	MKKS	8195	HP:0000135	Hypogonadism
OMIM:615989	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615989	MKKS	8195	HP:0001513	Obesity
OMIM:615989	NPHP1	4867	HP:0000077	Abnormality of the kidney
OMIM:615989	NPHP1	4867	HP:0100543	Cognitive impairment
OMIM:615989	NPHP1	4867	HP:0010442	Polydactyly
OMIM:615989	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:615989	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615989	NPHP1	4867	HP:0001513	Obesity
OMIM:615989	BBIP1	92482	HP:0000077	Abnormality of the kidney
OMIM:615989	BBIP1	92482	HP:0100543	Cognitive impairment
OMIM:615989	BBIP1	92482	HP:0010442	Polydactyly
OMIM:615989	BBIP1	92482	HP:0000135	Hypogonadism
OMIM:615989	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615989	BBIP1	92482	HP:0001513	Obesity
OMIM:615989	ARL6	84100	HP:0000077	Abnormality of the kidney
OMIM:615989	ARL6	84100	HP:0100543	Cognitive impairment
OMIM:615989	ARL6	84100	HP:0010442	Polydactyly
OMIM:615989	ARL6	84100	HP:0000135	Hypogonadism
OMIM:615989	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615989	ARL6	84100	HP:0001513	Obesity
OMIM:615989	BBS1	582	HP:0000077	Abnormality of the kidney
OMIM:615989	BBS1	582	HP:0100543	Cognitive impairment
OMIM:615989	BBS1	582	HP:0010442	Polydactyly
OMIM:615989	BBS1	582	HP:0000135	Hypogonadism
OMIM:615989	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615989	BBS1	582	HP:0001513	Obesity
OMIM:615989	BBS2	583	HP:0000077	Abnormality of the kidney
OMIM:615989	BBS2	583	HP:0100543	Cognitive impairment
OMIM:615989	BBS2	583	HP:0010442	Polydactyly
OMIM:615989	BBS2	583	HP:0000135	Hypogonadism
OMIM:615989	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615989	BBS2	583	HP:0001513	Obesity
OMIM:615989	BBS12	166379	HP:0000077	Abnormality of the kidney
OMIM:615989	BBS12	166379	HP:0100543	Cognitive impairment
OMIM:615989	BBS12	166379	HP:0010442	Polydactyly
OMIM:615989	BBS12	166379	HP:0000135	Hypogonadism
OMIM:615989	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615989	BBS12	166379	HP:0001513	Obesity
OMIM:615989	BBS4	585	HP:0000077	Abnormality of the kidney
OMIM:615989	BBS4	585	HP:0100543	Cognitive impairment
OMIM:615989	BBS4	585	HP:0010442	Polydactyly
OMIM:615989	BBS4	585	HP:0000135	Hypogonadism
OMIM:615989	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615989	BBS4	585	HP:0001513	Obesity
OMIM:615989	BBS9	27241	HP:0000077	Abnormality of the kidney
OMIM:615989	BBS9	27241	HP:0100543	Cognitive impairment
OMIM:615989	BBS9	27241	HP:0010442	Polydactyly
OMIM:615989	BBS9	27241	HP:0000135	Hypogonadism
OMIM:615989	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615989	BBS9	27241	HP:0001513	Obesity
OMIM:615989	TTC8	123016	HP:0000077	Abnormality of the kidney
OMIM:615989	TTC8	123016	HP:0100543	Cognitive impairment
OMIM:615989	TTC8	123016	HP:0010442	Polydactyly
OMIM:615989	TTC8	123016	HP:0000135	Hypogonadism
OMIM:615989	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615989	TTC8	123016	HP:0001513	Obesity
OMIM:615989	TRIM32	22954	HP:0000077	Abnormality of the kidney
OMIM:615989	TRIM32	22954	HP:0100543	Cognitive impairment
OMIM:615989	TRIM32	22954	HP:0010442	Polydactyly
OMIM:615989	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:615989	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615989	TRIM32	22954	HP:0001513	Obesity
OMIM:615989	BBS7	55212	HP:0000077	Abnormality of the kidney
OMIM:615989	BBS7	55212	HP:0100543	Cognitive impairment
OMIM:615989	BBS7	55212	HP:0010442	Polydactyly
OMIM:615989	BBS7	55212	HP:0000135	Hypogonadism
OMIM:615989	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615989	BBS7	55212	HP:0001513	Obesity
OMIM:615989	IFT27	11020	HP:0000077	Abnormality of the kidney
OMIM:615989	IFT27	11020	HP:0100543	Cognitive impairment
OMIM:615989	IFT27	11020	HP:0010442	Polydactyly
OMIM:615989	IFT27	11020	HP:0000135	Hypogonadism
OMIM:615989	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615989	IFT27	11020	HP:0001513	Obesity
OMIM:615989	IFT172	26160	HP:0000077	Abnormality of the kidney
OMIM:615989	IFT172	26160	HP:0100543	Cognitive impairment
OMIM:615989	IFT172	26160	HP:0010442	Polydactyly
OMIM:615989	IFT172	26160	HP:0000135	Hypogonadism
OMIM:615989	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615989	IFT172	26160	HP:0001513	Obesity
OMIM:615989	WDPCP	51057	HP:0000077	Abnormality of the kidney
OMIM:615989	WDPCP	51057	HP:0100543	Cognitive impairment
OMIM:615989	WDPCP	51057	HP:0010442	Polydactyly
OMIM:615989	WDPCP	51057	HP:0000135	Hypogonadism
OMIM:615989	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615989	WDPCP	51057	HP:0001513	Obesity
OMIM:615989	SDCCAG8	10806	HP:0000077	Abnormality of the kidney
OMIM:615989	SDCCAG8	10806	HP:0100543	Cognitive impairment
OMIM:615989	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:615989	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:615989	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615989	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615989	MKS1	54903	HP:0000077	Abnormality of the kidney
OMIM:615989	MKS1	54903	HP:0100543	Cognitive impairment
OMIM:615989	MKS1	54903	HP:0010442	Polydactyly
OMIM:615989	MKS1	54903	HP:0000135	Hypogonadism
OMIM:615989	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615989	MKS1	54903	HP:0001513	Obesity
OMIM:615989	BBS5	129880	HP:0000077	Abnormality of the kidney
OMIM:615989	BBS5	129880	HP:0100543	Cognitive impairment
OMIM:615989	BBS5	129880	HP:0010442	Polydactyly
OMIM:615989	BBS5	129880	HP:0000135	Hypogonadism
OMIM:615989	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615989	BBS5	129880	HP:0001513	Obesity
OMIM:615989	CEP290	80184	HP:0000077	Abnormality of the kidney
OMIM:615989	CEP290	80184	HP:0100543	Cognitive impairment
OMIM:615989	CEP290	80184	HP:0010442	Polydactyly
OMIM:615989	CEP290	80184	HP:0000135	Hypogonadism
OMIM:615989	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615989	CEP290	80184	HP:0001513	Obesity
OMIM:615989	LZTFL1	54585	HP:0000077	Abnormality of the kidney
OMIM:615989	LZTFL1	54585	HP:0100543	Cognitive impairment
OMIM:615989	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:615989	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:615989	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615989	LZTFL1	54585	HP:0001513	Obesity
OMIM:615989	BBS10	79738	HP:0000077	Abnormality of the kidney
OMIM:615989	BBS10	79738	HP:0100543	Cognitive impairment
OMIM:615989	BBS10	79738	HP:0010442	Polydactyly
OMIM:615989	BBS10	79738	HP:0000135	Hypogonadism
OMIM:615989	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615989	BBS10	79738	HP:0001513	Obesity
OMIM:616564	RIT1	6016	HP:0001680	Coarctation of aorta
OMIM:616564	RIT1	6016	HP:0000494	Downslanted palpebral fissures
OMIM:616564	RIT1	6016	HP:0002212	Curly hair
OMIM:616564	RIT1	6016	HP:0001718	Mitral stenosis
OMIM:616564	RIT1	6016	HP:0004322	Short stature
OMIM:616564	RIT1	6016	HP:0000316	Hypertelorism
OMIM:616564	RIT1	6016	HP:0001642	Pulmonic stenosis
OMIM:616564	RIT1	6016	HP:0000470	Short neck
OMIM:616564	RIT1	6016	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	RIT1	6016	HP:0000028	Cryptorchidism
OMIM:616564	RIT1	6016	HP:0000766	Abnormality of the sternum
OMIM:616564	RIT1	6016	HP:0000508	Ptosis
OMIM:616564	RIT1	6016	HP:0000535	Sparse eyebrow
OMIM:616564	BRAF	673	HP:0001680	Coarctation of aorta
OMIM:616564	BRAF	673	HP:0000494	Downslanted palpebral fissures
OMIM:616564	BRAF	673	HP:0002212	Curly hair
OMIM:616564	BRAF	673	HP:0001718	Mitral stenosis
OMIM:616564	BRAF	673	HP:0004322	Short stature
OMIM:616564	BRAF	673	HP:0000316	Hypertelorism
OMIM:616564	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:616564	BRAF	673	HP:0000470	Short neck
OMIM:616564	BRAF	673	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	BRAF	673	HP:0000028	Cryptorchidism
OMIM:616564	BRAF	673	HP:0000766	Abnormality of the sternum
OMIM:616564	BRAF	673	HP:0000508	Ptosis
OMIM:616564	BRAF	673	HP:0000535	Sparse eyebrow
OMIM:616564	KAT6B	23522	HP:0001680	Coarctation of aorta
OMIM:616564	KAT6B	23522	HP:0000494	Downslanted palpebral fissures
OMIM:616564	KAT6B	23522	HP:0002212	Curly hair
OMIM:616564	KAT6B	23522	HP:0001718	Mitral stenosis
OMIM:616564	KAT6B	23522	HP:0004322	Short stature
OMIM:616564	KAT6B	23522	HP:0000316	Hypertelorism
OMIM:616564	KAT6B	23522	HP:0001642	Pulmonic stenosis
OMIM:616564	KAT6B	23522	HP:0000470	Short neck
OMIM:616564	KAT6B	23522	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	KAT6B	23522	HP:0000028	Cryptorchidism
OMIM:616564	KAT6B	23522	HP:0000766	Abnormality of the sternum
OMIM:616564	KAT6B	23522	HP:0000508	Ptosis
OMIM:616564	KAT6B	23522	HP:0000535	Sparse eyebrow
OMIM:616564	RASA2	5922	HP:0001680	Coarctation of aorta
OMIM:616564	RASA2	5922	HP:0000494	Downslanted palpebral fissures
OMIM:616564	RASA2	5922	HP:0002212	Curly hair
OMIM:616564	RASA2	5922	HP:0001718	Mitral stenosis
OMIM:616564	RASA2	5922	HP:0004322	Short stature
OMIM:616564	RASA2	5922	HP:0000316	Hypertelorism
OMIM:616564	RASA2	5922	HP:0001642	Pulmonic stenosis
OMIM:616564	RASA2	5922	HP:0000470	Short neck
OMIM:616564	RASA2	5922	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	RASA2	5922	HP:0000028	Cryptorchidism
OMIM:616564	RASA2	5922	HP:0000766	Abnormality of the sternum
OMIM:616564	RASA2	5922	HP:0000508	Ptosis
OMIM:616564	RASA2	5922	HP:0000535	Sparse eyebrow
OMIM:616564	PTPN11	5781	HP:0001680	Coarctation of aorta
OMIM:616564	PTPN11	5781	HP:0000494	Downslanted palpebral fissures
OMIM:616564	PTPN11	5781	HP:0002212	Curly hair
OMIM:616564	PTPN11	5781	HP:0001718	Mitral stenosis
OMIM:616564	PTPN11	5781	HP:0004322	Short stature
OMIM:616564	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:616564	PTPN11	5781	HP:0001642	Pulmonic stenosis
OMIM:616564	PTPN11	5781	HP:0000470	Short neck
OMIM:616564	PTPN11	5781	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	PTPN11	5781	HP:0000028	Cryptorchidism
OMIM:616564	PTPN11	5781	HP:0000766	Abnormality of the sternum
OMIM:616564	PTPN11	5781	HP:0000508	Ptosis
OMIM:616564	PTPN11	5781	HP:0000535	Sparse eyebrow
OMIM:616564	KRAS	3845	HP:0001680	Coarctation of aorta
OMIM:616564	KRAS	3845	HP:0000494	Downslanted palpebral fissures
OMIM:616564	KRAS	3845	HP:0002212	Curly hair
OMIM:616564	KRAS	3845	HP:0001718	Mitral stenosis
OMIM:616564	KRAS	3845	HP:0004322	Short stature
OMIM:616564	KRAS	3845	HP:0000316	Hypertelorism
OMIM:616564	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:616564	KRAS	3845	HP:0000470	Short neck
OMIM:616564	KRAS	3845	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	KRAS	3845	HP:0000028	Cryptorchidism
OMIM:616564	KRAS	3845	HP:0000766	Abnormality of the sternum
OMIM:616564	KRAS	3845	HP:0000508	Ptosis
OMIM:616564	KRAS	3845	HP:0000535	Sparse eyebrow
OMIM:616564	RAF1	5894	HP:0001680	Coarctation of aorta
OMIM:616564	RAF1	5894	HP:0000494	Downslanted palpebral fissures
OMIM:616564	RAF1	5894	HP:0002212	Curly hair
OMIM:616564	RAF1	5894	HP:0001718	Mitral stenosis
OMIM:616564	RAF1	5894	HP:0004322	Short stature
OMIM:616564	RAF1	5894	HP:0000316	Hypertelorism
OMIM:616564	RAF1	5894	HP:0001642	Pulmonic stenosis
OMIM:616564	RAF1	5894	HP:0000470	Short neck
OMIM:616564	RAF1	5894	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	RAF1	5894	HP:0000028	Cryptorchidism
OMIM:616564	RAF1	5894	HP:0000766	Abnormality of the sternum
OMIM:616564	RAF1	5894	HP:0000508	Ptosis
OMIM:616564	RAF1	5894	HP:0000535	Sparse eyebrow
OMIM:616564	LZTR1	8216	HP:0001680	Coarctation of aorta
OMIM:616564	LZTR1	8216	HP:0000494	Downslanted palpebral fissures
OMIM:616564	LZTR1	8216	HP:0002212	Curly hair
OMIM:616564	LZTR1	8216	HP:0001718	Mitral stenosis
OMIM:616564	LZTR1	8216	HP:0004322	Short stature
OMIM:616564	LZTR1	8216	HP:0000316	Hypertelorism
OMIM:616564	LZTR1	8216	HP:0001642	Pulmonic stenosis
OMIM:616564	LZTR1	8216	HP:0000470	Short neck
OMIM:616564	LZTR1	8216	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	LZTR1	8216	HP:0000028	Cryptorchidism
OMIM:616564	LZTR1	8216	HP:0000766	Abnormality of the sternum
OMIM:616564	LZTR1	8216	HP:0000508	Ptosis
OMIM:616564	LZTR1	8216	HP:0000535	Sparse eyebrow
OMIM:616564	A2ML1	144568	HP:0001680	Coarctation of aorta
OMIM:616564	A2ML1	144568	HP:0000494	Downslanted palpebral fissures
OMIM:616564	A2ML1	144568	HP:0002212	Curly hair
OMIM:616564	A2ML1	144568	HP:0001718	Mitral stenosis
OMIM:616564	A2ML1	144568	HP:0004322	Short stature
OMIM:616564	A2ML1	144568	HP:0000316	Hypertelorism
OMIM:616564	A2ML1	144568	HP:0001642	Pulmonic stenosis
OMIM:616564	A2ML1	144568	HP:0000470	Short neck
OMIM:616564	A2ML1	144568	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	A2ML1	144568	HP:0000028	Cryptorchidism
OMIM:616564	A2ML1	144568	HP:0000766	Abnormality of the sternum
OMIM:616564	A2ML1	144568	HP:0000508	Ptosis
OMIM:616564	A2ML1	144568	HP:0000535	Sparse eyebrow
OMIM:616564	NRAS	4893	HP:0001680	Coarctation of aorta
OMIM:616564	NRAS	4893	HP:0000494	Downslanted palpebral fissures
OMIM:616564	NRAS	4893	HP:0002212	Curly hair
OMIM:616564	NRAS	4893	HP:0001718	Mitral stenosis
OMIM:616564	NRAS	4893	HP:0004322	Short stature
OMIM:616564	NRAS	4893	HP:0000316	Hypertelorism
OMIM:616564	NRAS	4893	HP:0001642	Pulmonic stenosis
OMIM:616564	NRAS	4893	HP:0000470	Short neck
OMIM:616564	NRAS	4893	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	NRAS	4893	HP:0000028	Cryptorchidism
OMIM:616564	NRAS	4893	HP:0000766	Abnormality of the sternum
OMIM:616564	NRAS	4893	HP:0000508	Ptosis
OMIM:616564	NRAS	4893	HP:0000535	Sparse eyebrow
OMIM:616564	SOS1	6654	HP:0001680	Coarctation of aorta
OMIM:616564	SOS1	6654	HP:0000494	Downslanted palpebral fissures
OMIM:616564	SOS1	6654	HP:0002212	Curly hair
OMIM:616564	SOS1	6654	HP:0001718	Mitral stenosis
OMIM:616564	SOS1	6654	HP:0004322	Short stature
OMIM:616564	SOS1	6654	HP:0000316	Hypertelorism
OMIM:616564	SOS1	6654	HP:0001642	Pulmonic stenosis
OMIM:616564	SOS1	6654	HP:0000470	Short neck
OMIM:616564	SOS1	6654	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	SOS1	6654	HP:0000028	Cryptorchidism
OMIM:616564	SOS1	6654	HP:0000766	Abnormality of the sternum
OMIM:616564	SOS1	6654	HP:0000508	Ptosis
OMIM:616564	SOS1	6654	HP:0000535	Sparse eyebrow
OMIM:616564	SOS2	6655	HP:0001680	Coarctation of aorta
OMIM:616564	SOS2	6655	HP:0000494	Downslanted palpebral fissures
OMIM:616564	SOS2	6655	HP:0002212	Curly hair
OMIM:616564	SOS2	6655	HP:0001718	Mitral stenosis
OMIM:616564	SOS2	6655	HP:0004322	Short stature
OMIM:616564	SOS2	6655	HP:0000316	Hypertelorism
OMIM:616564	SOS2	6655	HP:0001642	Pulmonic stenosis
OMIM:616564	SOS2	6655	HP:0000470	Short neck
OMIM:616564	SOS2	6655	HP:0001671	Abnormality of the cardiac septa
OMIM:616564	SOS2	6655	HP:0000028	Cryptorchidism
OMIM:616564	SOS2	6655	HP:0000766	Abnormality of the sternum
OMIM:616564	SOS2	6655	HP:0000508	Ptosis
OMIM:616564	SOS2	6655	HP:0000535	Sparse eyebrow
ORPHANET:2340	MBTPS2	51360	HP:0008064	Ichthyosis
ORPHANET:2340	MBTPS2	51360	HP:0000670	Carious teeth
ORPHANET:2340	MBTPS2	51360	HP:0001231	Abnormality of the fingernails
ORPHANET:2340	MBTPS2	51360	HP:0000682	Abnormality of dental enamel
ORPHANET:2340	MBTPS2	51360	HP:0000962	Hyperkeratosis
ORPHANET:2340	MBTPS2	51360	HP:0000545	Myopia
ORPHANET:2340	MBTPS2	51360	HP:0007759	Opacification of the corneal stroma
ORPHANET:2340	MBTPS2	51360	HP:0000498	Blepharitis
ORPHANET:2340	MBTPS2	51360	HP:0001596	Alopecia
ORPHANET:2340	MBTPS2	51360	HP:0000541	Retinal detachment
ORPHANET:2340	MBTPS2	51360	HP:0000964	Eczema
ORPHANET:2340	MBTPS2	51360	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:2340	SAT1	6303	HP:0008064	Ichthyosis
ORPHANET:2340	SAT1	6303	HP:0000670	Carious teeth
ORPHANET:2340	SAT1	6303	HP:0001231	Abnormality of the fingernails
ORPHANET:2340	SAT1	6303	HP:0000682	Abnormality of dental enamel
ORPHANET:2340	SAT1	6303	HP:0000962	Hyperkeratosis
ORPHANET:2340	SAT1	6303	HP:0000545	Myopia
ORPHANET:2340	SAT1	6303	HP:0007759	Opacification of the corneal stroma
ORPHANET:2340	SAT1	6303	HP:0000498	Blepharitis
ORPHANET:2340	SAT1	6303	HP:0001596	Alopecia
ORPHANET:2340	SAT1	6303	HP:0000541	Retinal detachment
ORPHANET:2340	SAT1	6303	HP:0000964	Eczema
ORPHANET:2340	SAT1	6303	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:605387	EPHA2	1969	HP:0000006	Autosomal dominant inheritance
OMIM:605387	EPHA2	1969	HP:0007787	Posterior subcapsular cataract
OMIM:605387	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:605387	CRYAB	1410	HP:0007787	Posterior subcapsular cataract
OMIM:605387	CHMP4B	128866	HP:0000006	Autosomal dominant inheritance
OMIM:605387	CHMP4B	128866	HP:0007787	Posterior subcapsular cataract
OMIM:605387	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:605387	CRYBA2	1412	HP:0007787	Posterior subcapsular cataract
OMIM:605387	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:605387	AGK	55750	HP:0007787	Posterior subcapsular cataract
OMIM:605387	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:605387	GCNT2	2651	HP:0007787	Posterior subcapsular cataract
OMIM:605387	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:605387	GJA3	2700	HP:0007787	Posterior subcapsular cataract
OMIM:605387	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:605387	MIP	4284	HP:0007787	Posterior subcapsular cataract
OMIM:605387	PITX3	5309	HP:0000006	Autosomal dominant inheritance
OMIM:605387	PITX3	5309	HP:0007787	Posterior subcapsular cataract
OMIM:211400	SCNN1A	6337	HP:0002110	Bronchiectasis
OMIM:211400	SCNN1A	6337	HP:0000006	Autosomal dominant inheritance
OMIM:211400	SCNN1B	6338	HP:0002110	Bronchiectasis
OMIM:211400	SCNN1B	6338	HP:0000006	Autosomal dominant inheritance
OMIM:211400	SCNN1G	6340	HP:0002110	Bronchiectasis
OMIM:211400	SCNN1G	6340	HP:0000006	Autosomal dominant inheritance
OMIM:211400	CFTR	1080	HP:0002110	Bronchiectasis
OMIM:211400	CFTR	1080	HP:0000006	Autosomal dominant inheritance
OMIM:300434	SHROOM4	57477	HP:0002187	Intellectual disability, profound
OMIM:300434	SHROOM4	57477	HP:0004322	Short stature
OMIM:300434	SHROOM4	57477	HP:0002827	Hip dislocation
OMIM:601067	PCDH15	65217	HP:0001751	Vestibular dysfunction
OMIM:601067	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:601067	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:601067	PCDH15	65217	HP:0000510	Rod-cone dystrophy
OMIM:601067	USH1C	10083	HP:0001751	Vestibular dysfunction
OMIM:601067	USH1C	10083	HP:0000365	Hearing impairment
OMIM:601067	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:601067	USH1C	10083	HP:0000510	Rod-cone dystrophy
OMIM:601067	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:601067	CIB2	10518	HP:0000365	Hearing impairment
OMIM:601067	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:601067	CIB2	10518	HP:0000510	Rod-cone dystrophy
OMIM:601067	MYO7A	4647	HP:0001751	Vestibular dysfunction
OMIM:601067	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:601067	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:601067	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:601067	CDH23	64072	HP:0001751	Vestibular dysfunction
OMIM:601067	CDH23	64072	HP:0000365	Hearing impairment
OMIM:601067	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:601067	CDH23	64072	HP:0000510	Rod-cone dystrophy
OMIM:601067	USH1G	124590	HP:0001751	Vestibular dysfunction
OMIM:601067	USH1G	124590	HP:0000365	Hearing impairment
OMIM:601067	USH1G	124590	HP:0000007	Autosomal recessive inheritance
OMIM:601067	USH1G	124590	HP:0000510	Rod-cone dystrophy
OMIM:614922	RMND1	55005	HP:0006829	Severe muscular hypotonia
OMIM:614922	RMND1	55005	HP:0001308	Tongue fasciculations
OMIM:614922	RMND1	55005	HP:0001284	Areflexia
OMIM:614922	RMND1	55005	HP:0001302	Pachygyria
OMIM:614922	RMND1	55005	HP:0002120	Cerebral cortical atrophy
OMIM:614922	RMND1	55005	HP:0001254	Lethargy
OMIM:614922	RMND1	55005	HP:0003429	CNS hypomyelination
OMIM:614922	RMND1	55005	HP:0001336	Myoclonus
OMIM:614922	RMND1	55005	HP:0001522	Death in infancy
OMIM:614922	RMND1	55005	HP:0000110	Renal dysplasia
OMIM:614922	RMND1	55005	HP:0003198	Myopathy
OMIM:614922	RMND1	55005	HP:0003577	Congenital onset
OMIM:614922	RMND1	55005	HP:0011968	Feeding difficulties
OMIM:614922	RMND1	55005	HP:0002151	Increased serum lactate
OMIM:614922	RMND1	55005	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614922	RMND1	55005	HP:0009830	Peripheral neuropathy
OMIM:614922	RMND1	55005	HP:0001410	Decreased liver function
OMIM:614922	RMND1	55005	HP:0000365	Hearing impairment
OMIM:614922	RMND1	55005	HP:0002490	Increased CSF lactate
OMIM:614922	RMND1	55005	HP:0003128	Lactic acidosis
OMIM:614922	RMND1	55005	HP:0000007	Autosomal recessive inheritance
OMIM:614922	RMND1	55005	HP:0001265	Hyporeflexia
OMIM:614922	RMND1	55005	HP:0001638	Cardiomyopathy
OMIM:614922	RMND1	55005	HP:0002240	Hepatomegaly
OMIM:214150	ERCC1	2067	HP:0001250	Seizures
OMIM:214150	ERCC1	2067	HP:0000568	Microphthalmia
OMIM:214150	ERCC1	2067	HP:0001321	Cerebellar hypoplasia
OMIM:214150	ERCC1	2067	HP:0002171	Gliosis
OMIM:214150	ERCC1	2067	HP:0002187	Intellectual disability, profound
OMIM:214150	ERCC1	2067	HP:0000426	Prominent nasal bridge
OMIM:214150	ERCC1	2067	HP:0012448	Delayed myelination
OMIM:214150	ERCC1	2067	HP:0006610	Wide intermamillary distance
OMIM:214150	ERCC1	2067	HP:0012385	Camptodactyly
OMIM:214150	ERCC1	2067	HP:0000007	Autosomal recessive inheritance
OMIM:214150	ERCC1	2067	HP:0001838	Rocker bottom foot
OMIM:214150	ERCC1	2067	HP:0000347	Micrognathia
OMIM:214150	ERCC1	2067	HP:0000490	Deeply set eye
OMIM:214150	ERCC1	2067	HP:0001007	Hirsutism
OMIM:214150	ERCC1	2067	HP:0009473	Joint contracture of the hand
OMIM:214150	ERCC1	2067	HP:0000581	Blepharophimosis
OMIM:214150	ERCC1	2067	HP:0002673	Coxa valga
OMIM:214150	ERCC1	2067	HP:0000233	Thin vermilion border
OMIM:214150	ERCC1	2067	HP:0000407	Sensorineural hearing impairment
OMIM:214150	ERCC1	2067	HP:0002804	Arthrogryposis multiplex congenita
OMIM:214150	ERCC1	2067	HP:0000343	Long philtrum
OMIM:214150	ERCC1	2067	HP:0001274	Agenesis of corpus callosum
OMIM:214150	ERCC1	2067	HP:0002987	Elbow flexion contracture
OMIM:214150	ERCC1	2067	HP:0000939	Osteoporosis
OMIM:214150	ERCC1	2067	HP:0000518	Cataract
OMIM:214150	ERCC1	2067	HP:0003819	Death in childhood
OMIM:214150	ERCC1	2067	HP:0000340	Sloping forehead
OMIM:214150	ERCC1	2067	HP:0001508	Failure to thrive
OMIM:214150	ERCC1	2067	HP:0006380	Knee flexion contracture
OMIM:214150	ERCC1	2067	HP:0002751	Kyphoscoliosis
OMIM:214150	ERCC1	2067	HP:0000252	Microcephaly
OMIM:214150	ERCC1	2067	HP:0000639	Nystagmus
OMIM:214150	ERCC1	2067	HP:0001252	Muscular hypotonia
OMIM:214150	ERCC2	2068	HP:0001250	Seizures
OMIM:214150	ERCC2	2068	HP:0000568	Microphthalmia
OMIM:214150	ERCC2	2068	HP:0001321	Cerebellar hypoplasia
OMIM:214150	ERCC2	2068	HP:0002171	Gliosis
OMIM:214150	ERCC2	2068	HP:0002187	Intellectual disability, profound
OMIM:214150	ERCC2	2068	HP:0000426	Prominent nasal bridge
OMIM:214150	ERCC2	2068	HP:0012448	Delayed myelination
OMIM:214150	ERCC2	2068	HP:0006610	Wide intermamillary distance
OMIM:214150	ERCC2	2068	HP:0012385	Camptodactyly
OMIM:214150	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:214150	ERCC2	2068	HP:0001838	Rocker bottom foot
OMIM:214150	ERCC2	2068	HP:0000347	Micrognathia
OMIM:214150	ERCC2	2068	HP:0000490	Deeply set eye
OMIM:214150	ERCC2	2068	HP:0001007	Hirsutism
OMIM:214150	ERCC2	2068	HP:0009473	Joint contracture of the hand
OMIM:214150	ERCC2	2068	HP:0000581	Blepharophimosis
OMIM:214150	ERCC2	2068	HP:0002673	Coxa valga
OMIM:214150	ERCC2	2068	HP:0000233	Thin vermilion border
OMIM:214150	ERCC2	2068	HP:0000407	Sensorineural hearing impairment
OMIM:214150	ERCC2	2068	HP:0002804	Arthrogryposis multiplex congenita
OMIM:214150	ERCC2	2068	HP:0000343	Long philtrum
OMIM:214150	ERCC2	2068	HP:0001274	Agenesis of corpus callosum
OMIM:214150	ERCC2	2068	HP:0002987	Elbow flexion contracture
OMIM:214150	ERCC2	2068	HP:0000939	Osteoporosis
OMIM:214150	ERCC2	2068	HP:0000518	Cataract
OMIM:214150	ERCC2	2068	HP:0003819	Death in childhood
OMIM:214150	ERCC2	2068	HP:0000340	Sloping forehead
OMIM:214150	ERCC2	2068	HP:0001508	Failure to thrive
OMIM:214150	ERCC2	2068	HP:0006380	Knee flexion contracture
OMIM:214150	ERCC2	2068	HP:0002751	Kyphoscoliosis
OMIM:214150	ERCC2	2068	HP:0000252	Microcephaly
OMIM:214150	ERCC2	2068	HP:0000639	Nystagmus
OMIM:214150	ERCC2	2068	HP:0001252	Muscular hypotonia
OMIM:214150	ERCC5	2073	HP:0001250	Seizures
OMIM:214150	ERCC5	2073	HP:0000568	Microphthalmia
OMIM:214150	ERCC5	2073	HP:0001321	Cerebellar hypoplasia
OMIM:214150	ERCC5	2073	HP:0002171	Gliosis
OMIM:214150	ERCC5	2073	HP:0002187	Intellectual disability, profound
OMIM:214150	ERCC5	2073	HP:0000426	Prominent nasal bridge
OMIM:214150	ERCC5	2073	HP:0012448	Delayed myelination
OMIM:214150	ERCC5	2073	HP:0006610	Wide intermamillary distance
OMIM:214150	ERCC5	2073	HP:0012385	Camptodactyly
OMIM:214150	ERCC5	2073	HP:0000007	Autosomal recessive inheritance
OMIM:214150	ERCC5	2073	HP:0001838	Rocker bottom foot
OMIM:214150	ERCC5	2073	HP:0000347	Micrognathia
OMIM:214150	ERCC5	2073	HP:0000490	Deeply set eye
OMIM:214150	ERCC5	2073	HP:0001007	Hirsutism
OMIM:214150	ERCC5	2073	HP:0009473	Joint contracture of the hand
OMIM:214150	ERCC5	2073	HP:0000581	Blepharophimosis
OMIM:214150	ERCC5	2073	HP:0002673	Coxa valga
OMIM:214150	ERCC5	2073	HP:0000233	Thin vermilion border
OMIM:214150	ERCC5	2073	HP:0000407	Sensorineural hearing impairment
OMIM:214150	ERCC5	2073	HP:0002804	Arthrogryposis multiplex congenita
OMIM:214150	ERCC5	2073	HP:0000343	Long philtrum
OMIM:214150	ERCC5	2073	HP:0001274	Agenesis of corpus callosum
OMIM:214150	ERCC5	2073	HP:0002987	Elbow flexion contracture
OMIM:214150	ERCC5	2073	HP:0000939	Osteoporosis
OMIM:214150	ERCC5	2073	HP:0000518	Cataract
OMIM:214150	ERCC5	2073	HP:0003819	Death in childhood
OMIM:214150	ERCC5	2073	HP:0000340	Sloping forehead
OMIM:214150	ERCC5	2073	HP:0001508	Failure to thrive
OMIM:214150	ERCC5	2073	HP:0006380	Knee flexion contracture
OMIM:214150	ERCC5	2073	HP:0002751	Kyphoscoliosis
OMIM:214150	ERCC5	2073	HP:0000252	Microcephaly
OMIM:214150	ERCC5	2073	HP:0000639	Nystagmus
OMIM:214150	ERCC5	2073	HP:0001252	Muscular hypotonia
OMIM:214150	ERCC6	2074	HP:0001250	Seizures
OMIM:214150	ERCC6	2074	HP:0000568	Microphthalmia
OMIM:214150	ERCC6	2074	HP:0001321	Cerebellar hypoplasia
OMIM:214150	ERCC6	2074	HP:0002171	Gliosis
OMIM:214150	ERCC6	2074	HP:0002187	Intellectual disability, profound
OMIM:214150	ERCC6	2074	HP:0000426	Prominent nasal bridge
OMIM:214150	ERCC6	2074	HP:0012448	Delayed myelination
OMIM:214150	ERCC6	2074	HP:0006610	Wide intermamillary distance
OMIM:214150	ERCC6	2074	HP:0012385	Camptodactyly
OMIM:214150	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:214150	ERCC6	2074	HP:0001838	Rocker bottom foot
OMIM:214150	ERCC6	2074	HP:0000347	Micrognathia
OMIM:214150	ERCC6	2074	HP:0000490	Deeply set eye
OMIM:214150	ERCC6	2074	HP:0001007	Hirsutism
OMIM:214150	ERCC6	2074	HP:0009473	Joint contracture of the hand
OMIM:214150	ERCC6	2074	HP:0000581	Blepharophimosis
OMIM:214150	ERCC6	2074	HP:0002673	Coxa valga
OMIM:214150	ERCC6	2074	HP:0000233	Thin vermilion border
OMIM:214150	ERCC6	2074	HP:0000407	Sensorineural hearing impairment
OMIM:214150	ERCC6	2074	HP:0002804	Arthrogryposis multiplex congenita
OMIM:214150	ERCC6	2074	HP:0000343	Long philtrum
OMIM:214150	ERCC6	2074	HP:0001274	Agenesis of corpus callosum
OMIM:214150	ERCC6	2074	HP:0002987	Elbow flexion contracture
OMIM:214150	ERCC6	2074	HP:0000939	Osteoporosis
OMIM:214150	ERCC6	2074	HP:0000518	Cataract
OMIM:214150	ERCC6	2074	HP:0003819	Death in childhood
OMIM:214150	ERCC6	2074	HP:0000340	Sloping forehead
OMIM:214150	ERCC6	2074	HP:0001508	Failure to thrive
OMIM:214150	ERCC6	2074	HP:0006380	Knee flexion contracture
OMIM:214150	ERCC6	2074	HP:0002751	Kyphoscoliosis
OMIM:214150	ERCC6	2074	HP:0000252	Microcephaly
OMIM:214150	ERCC6	2074	HP:0000639	Nystagmus
OMIM:214150	ERCC6	2074	HP:0001252	Muscular hypotonia
OMIM:613329	SERPINE1	5054	HP:0003577	Congenital onset
OMIM:613329	SERPINE1	5054	HP:0000007	Autosomal recessive inheritance
OMIM:613329	SERPINE1	5054	HP:0000006	Autosomal dominant inheritance
OMIM:143400	TBX18	9096	HP:0000083	Renal insufficiency
OMIM:143400	TBX18	9096	HP:0000126	Hydronephrosis
OMIM:143400	TBX18	9096	HP:0000072	Hydroureter
OMIM:143400	TBX18	9096	HP:0000100	Nephrotic syndrome
OMIM:143400	TBX18	9096	HP:0001626	Abnormality of the cardiovascular system
OMIM:143400	TBX18	9096	HP:0000089	Renal hypoplasia
OMIM:143400	TBX18	9096	HP:0000110	Renal dysplasia
OMIM:143400	TBX18	9096	HP:0000003	Multicystic kidney dysplasia
OMIM:143400	TBX18	9096	HP:0000006	Autosomal dominant inheritance
OMIM:143400	TBX18	9096	HP:0000069	Abnormality of the ureter
OMIM:143400	TBX18	9096	HP:0001562	Oligohydramnios
OMIM:143400	TBX18	9096	HP:0001561	Polyhydramnios
OMIM:300703	ATP2B3	492	HP:0001419	X-linked recessive inheritance
OMIM:300703	ATP2B3	492	HP:0001260	Dysarthria
OMIM:300703	ATP2B3	492	HP:0001251	Ataxia
OMIM:300703	ATP2B3	492	HP:0001270	Motor delay
OMIM:300703	ATP2B3	492	HP:0000639	Nystagmus
OMIM:300703	ATP2B3	492	HP:0003593	Infantile onset
OMIM:300703	ATP2B3	492	HP:0001319	Neonatal hypotonia
OMIM:300703	ATP2B3	492	HP:0003680	Nonprogressive
OMIM:610205	NOTCH2	4853	HP:0000083	Renal insufficiency
OMIM:610205	NOTCH2	4853	HP:0000337	Broad forehead
OMIM:610205	NOTCH2	4853	HP:0000325	Triangular face
OMIM:610205	NOTCH2	4853	HP:0000006	Autosomal dominant inheritance
OMIM:610205	NOTCH2	4853	HP:0001396	Cholestasis
OMIM:610205	NOTCH2	4853	HP:0001631	Atria septal defect
OMIM:610205	NOTCH2	4853	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:234500	SLC6A19	340024	HP:0000988	Skin rash
OMIM:234500	SLC6A19	340024	HP:0000230	Gingivitis
OMIM:234500	SLC6A19	340024	HP:0002024	Malabsorption
OMIM:234500	SLC6A19	340024	HP:0000709	Psychosis
OMIM:234500	SLC6A19	340024	HP:0000613	Photophobia
OMIM:234500	SLC6A19	340024	HP:0100543	Cognitive impairment
OMIM:234500	SLC6A19	340024	HP:0000639	Nystagmus
OMIM:234500	SLC6A19	340024	HP:0000738	Hallucinations
OMIM:234500	SLC6A19	340024	HP:0002383	Encephalitis
OMIM:234500	SLC6A19	340024	HP:0001276	Hypertonia
OMIM:234500	SLC6A19	340024	HP:0004322	Short stature
OMIM:234500	SLC6A19	340024	HP:0001347	Hyperreflexia
OMIM:234500	SLC6A19	340024	HP:0001252	Muscular hypotonia
OMIM:234500	SLC6A19	340024	HP:0001053	Hypopigmented skin patches
OMIM:234500	SLC6A19	340024	HP:0000992	Cutaneous photosensitivity
OMIM:234500	SLC6A19	340024	HP:0007400	Irregular hyperpigmentation
OMIM:234500	SLC6A19	340024	HP:0002131	Episodic ataxia
OMIM:234500	SLC6A19	340024	HP:0002353	EEG abnormality
OMIM:234500	SLC6A19	340024	HP:0000712	Emotional lability
OMIM:234500	SLC6A19	340024	HP:0000486	Strabismus
OMIM:234500	SLC6A19	340024	HP:0001250	Seizures
OMIM:234500	SLC6A19	340024	HP:0002076	Migraine
OMIM:234500	SLC6A19	340024	HP:0002311	Incoordination
OMIM:234500	SLC6A19	340024	HP:0000007	Autosomal recessive inheritance
OMIM:234500	SLC6A19	340024	HP:0001263	Global developmental delay
OMIM:615293	NOTCH3	4854	HP:0000006	Autosomal dominant inheritance
OMIM:615293	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:615298	GDF5	8200	HP:0006143	Abnormal finger flexion creases
OMIM:615298	GDF5	8200	HP:0001763	Pes planus
OMIM:615298	NOG	9241	HP:0006143	Abnormal finger flexion creases
OMIM:615298	NOG	9241	HP:0001763	Pes planus
OMIM:609141	COL8A2	1296	HP:0000023	Inguinal hernia
OMIM:609141	COL8A2	1296	HP:0000006	Autosomal dominant inheritance
OMIM:609141	COL8A2	1296	HP:0001131	Corneal dystrophy
OMIM:609141	ZEB1	6935	HP:0000023	Inguinal hernia
OMIM:609141	ZEB1	6935	HP:0000006	Autosomal dominant inheritance
OMIM:609141	ZEB1	6935	HP:0001131	Corneal dystrophy
OMIM:609141	VSX1	30813	HP:0000023	Inguinal hernia
OMIM:609141	VSX1	30813	HP:0000006	Autosomal dominant inheritance
OMIM:609141	VSX1	30813	HP:0001131	Corneal dystrophy
OMIM:303400	TBX22	50945	HP:0010296	Ankyloglossia
OMIM:303400	TBX22	50945	HP:0000175	Cleft palate
OMIM:303400	TBX22	50945	HP:0000193	Bifid uvula
OMIM:303400	TBX22	50945	HP:0001417	X-linked inheritance
OMIM:600195	TEK	7010	HP:0000006	Autosomal dominant inheritance
OMIM:600195	TEK	7010	HP:0000153	Abnormality of the mouth
OMIM:600195	TEK	7010	HP:0100026	Arteriovenous malformation
OMIM:219050	INSL3	3640	HP:0000104	Renal agenesis
OMIM:210250	ABCG5	64240	HP:0001892	Abnormal bleeding
OMIM:210250	ABCG5	64240	HP:0001744	Splenomegaly
OMIM:210250	ABCG5	64240	HP:0003124	Hypercholesterolemia
OMIM:210250	ABCG5	64240	HP:0001392	Abnormality of the liver
OMIM:210250	ABCG5	64240	HP:0002027	Abdominal pain
OMIM:210250	ABCG5	64240	HP:0003540	Impaired platelet aggregation
OMIM:210250	ABCG5	64240	HP:0001369	Arthritis
OMIM:210250	ABCG5	64240	HP:0000007	Autosomal recessive inheritance
OMIM:210250	ABCG5	64240	HP:0001923	Reticulocytosis
OMIM:210250	ABCG5	64240	HP:0002829	Arthralgia
OMIM:210250	ABCG5	64240	HP:0001574	Abnormality of the integument
OMIM:210250	ABCG8	64241	HP:0001892	Abnormal bleeding
OMIM:210250	ABCG8	64241	HP:0001744	Splenomegaly
OMIM:210250	ABCG8	64241	HP:0003124	Hypercholesterolemia
OMIM:210250	ABCG8	64241	HP:0001392	Abnormality of the liver
OMIM:210250	ABCG8	64241	HP:0002027	Abdominal pain
OMIM:210250	ABCG8	64241	HP:0003540	Impaired platelet aggregation
OMIM:210250	ABCG8	64241	HP:0001369	Arthritis
OMIM:210250	ABCG8	64241	HP:0000007	Autosomal recessive inheritance
OMIM:210250	ABCG8	64241	HP:0001923	Reticulocytosis
OMIM:210250	ABCG8	64241	HP:0002829	Arthralgia
OMIM:210250	ABCG8	64241	HP:0001574	Abnormality of the integument
OMIM:615119	COA6	388753	HP:0000007	Autosomal recessive inheritance
OMIM:615119	COA6	388753	HP:0001558	Decreased fetal movement
OMIM:615119	COA6	388753	HP:0001298	Encephalopathy
OMIM:615119	COA6	388753	HP:0000252	Microcephaly
OMIM:615119	COA6	388753	HP:0001252	Muscular hypotonia
OMIM:615119	COA6	388753	HP:0002171	Gliosis
OMIM:615119	COA6	388753	HP:0001397	Hepatic steatosis
OMIM:615119	SCO1	6341	HP:0000007	Autosomal recessive inheritance
OMIM:615119	SCO1	6341	HP:0001558	Decreased fetal movement
OMIM:615119	SCO1	6341	HP:0001298	Encephalopathy
OMIM:615119	SCO1	6341	HP:0000252	Microcephaly
OMIM:615119	SCO1	6341	HP:0001252	Muscular hypotonia
OMIM:615119	SCO1	6341	HP:0002171	Gliosis
OMIM:615119	SCO1	6341	HP:0001397	Hepatic steatosis
OMIM:615119	COX15	1355	HP:0000007	Autosomal recessive inheritance
OMIM:615119	COX15	1355	HP:0001558	Decreased fetal movement
OMIM:615119	COX15	1355	HP:0001298	Encephalopathy
OMIM:615119	COX15	1355	HP:0000252	Microcephaly
OMIM:615119	COX15	1355	HP:0001252	Muscular hypotonia
OMIM:615119	COX15	1355	HP:0002171	Gliosis
OMIM:615119	COX15	1355	HP:0001397	Hepatic steatosis
OMIM:615119	SCO2	9997	HP:0000007	Autosomal recessive inheritance
OMIM:615119	SCO2	9997	HP:0001558	Decreased fetal movement
OMIM:615119	SCO2	9997	HP:0001298	Encephalopathy
OMIM:615119	SCO2	9997	HP:0000252	Microcephaly
OMIM:615119	SCO2	9997	HP:0001252	Muscular hypotonia
OMIM:615119	SCO2	9997	HP:0002171	Gliosis
OMIM:615119	SCO2	9997	HP:0001397	Hepatic steatosis
OMIM:615119	COA5	493753	HP:0000007	Autosomal recessive inheritance
OMIM:615119	COA5	493753	HP:0001558	Decreased fetal movement
OMIM:615119	COA5	493753	HP:0001298	Encephalopathy
OMIM:615119	COA5	493753	HP:0000252	Microcephaly
OMIM:615119	COA5	493753	HP:0001252	Muscular hypotonia
OMIM:615119	COA5	493753	HP:0002171	Gliosis
OMIM:615119	COA5	493753	HP:0001397	Hepatic steatosis
OMIM:614920	PEX19	5824	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX19	5824	HP:0001271	Polyneuropathy
OMIM:614920	PEX19	5824	HP:0000519	Congenital cataract
OMIM:614920	PEX19	5824	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX19	5824	HP:0002076	Migraine
OMIM:614920	PEX16	9409	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX16	9409	HP:0001271	Polyneuropathy
OMIM:614920	PEX16	9409	HP:0000519	Congenital cataract
OMIM:614920	PEX16	9409	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX16	9409	HP:0002076	Migraine
OMIM:614920	PEX2	5828	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX2	5828	HP:0001271	Polyneuropathy
OMIM:614920	PEX2	5828	HP:0000519	Congenital cataract
OMIM:614920	PEX2	5828	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX2	5828	HP:0002076	Migraine
OMIM:614920	PEX1	5189	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX1	5189	HP:0001271	Polyneuropathy
OMIM:614920	PEX1	5189	HP:0000519	Congenital cataract
OMIM:614920	PEX1	5189	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX1	5189	HP:0002076	Migraine
OMIM:614920	PEX5	5830	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX5	5830	HP:0001271	Polyneuropathy
OMIM:614920	PEX5	5830	HP:0000519	Congenital cataract
OMIM:614920	PEX5	5830	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX5	5830	HP:0002076	Migraine
OMIM:614920	PEX6	5190	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX6	5190	HP:0001271	Polyneuropathy
OMIM:614920	PEX6	5190	HP:0000519	Congenital cataract
OMIM:614920	PEX6	5190	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX6	5190	HP:0002076	Migraine
OMIM:614920	PEX10	5192	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX10	5192	HP:0001271	Polyneuropathy
OMIM:614920	PEX10	5192	HP:0000519	Congenital cataract
OMIM:614920	PEX10	5192	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX10	5192	HP:0002076	Migraine
OMIM:614920	PEX12	5193	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX12	5193	HP:0001271	Polyneuropathy
OMIM:614920	PEX12	5193	HP:0000519	Congenital cataract
OMIM:614920	PEX12	5193	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX12	5193	HP:0002076	Migraine
OMIM:614920	PEX13	5194	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX13	5194	HP:0001271	Polyneuropathy
OMIM:614920	PEX13	5194	HP:0000519	Congenital cataract
OMIM:614920	PEX13	5194	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX13	5194	HP:0002076	Migraine
OMIM:614920	PEX14	5195	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX14	5195	HP:0001271	Polyneuropathy
OMIM:614920	PEX14	5195	HP:0000519	Congenital cataract
OMIM:614920	PEX14	5195	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX14	5195	HP:0002076	Migraine
OMIM:614920	PEX26	55670	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX26	55670	HP:0001271	Polyneuropathy
OMIM:614920	PEX26	55670	HP:0000519	Congenital cataract
OMIM:614920	PEX26	55670	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX26	55670	HP:0002076	Migraine
OMIM:614920	PEX3	8504	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX3	8504	HP:0001271	Polyneuropathy
OMIM:614920	PEX3	8504	HP:0000519	Congenital cataract
OMIM:614920	PEX3	8504	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX3	8504	HP:0002076	Migraine
OMIM:614920	PEX11B	8799	HP:0001730	Progressive hearing impairment
OMIM:614920	PEX11B	8799	HP:0001271	Polyneuropathy
OMIM:614920	PEX11B	8799	HP:0000519	Congenital cataract
OMIM:614920	PEX11B	8799	HP:0001256	Intellectual disability, mild
OMIM:614920	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614920	PEX11B	8799	HP:0002076	Migraine
OMIM:615560	PAX1	5075	HP:0030084	Clinodactyly
OMIM:615560	PAX1	5075	HP:0000670	Carious teeth
OMIM:615560	PAX1	5075	HP:0000007	Autosomal recessive inheritance
OMIM:615560	PAX1	5075	HP:0000308	Microretrognathia
OMIM:615560	PAX1	5075	HP:0003691	Scapular winging
OMIM:615560	PAX1	5075	HP:0000592	Blue sclerae
OMIM:615560	PAX1	5075	HP:0001182	Tapered finger
OMIM:615560	PAX1	5075	HP:0002342	Intellectual disability, moderate
OMIM:615560	PAX1	5075	HP:0004467	Preauricular pit
OMIM:615560	PAX1	5075	HP:0000689	Dental malocclusion
OMIM:615560	PAX1	5075	HP:0000369	Low-set ears
OMIM:615560	EYA1	2138	HP:0030084	Clinodactyly
OMIM:615560	EYA1	2138	HP:0000670	Carious teeth
OMIM:615560	EYA1	2138	HP:0000007	Autosomal recessive inheritance
OMIM:615560	EYA1	2138	HP:0000308	Microretrognathia
OMIM:615560	EYA1	2138	HP:0003691	Scapular winging
OMIM:615560	EYA1	2138	HP:0000592	Blue sclerae
OMIM:615560	EYA1	2138	HP:0001182	Tapered finger
OMIM:615560	EYA1	2138	HP:0002342	Intellectual disability, moderate
OMIM:615560	EYA1	2138	HP:0004467	Preauricular pit
OMIM:615560	EYA1	2138	HP:0000689	Dental malocclusion
OMIM:615560	EYA1	2138	HP:0000369	Low-set ears
OMIM:610217	PLA2G6	8398	HP:0000648	Optic atrophy
OMIM:610217	PLA2G6	8398	HP:0001272	Cerebellar atrophy
OMIM:610217	PLA2G6	8398	HP:0002066	Gait ataxia
OMIM:610217	PLA2G6	8398	HP:0001257	Spasticity
OMIM:610217	PLA2G6	8398	HP:0002067	Bradykinesia
OMIM:610217	PLA2G6	8398	HP:0000639	Nystagmus
OMIM:610217	PLA2G6	8398	HP:0003487	Babinski sign
OMIM:610217	PLA2G6	8398	HP:0007772	Impaired smooth pursuit
OMIM:610217	PLA2G6	8398	HP:0001260	Dysarthria
OMIM:610217	PLA2G6	8398	HP:0002180	Neurodegeneration
OMIM:610217	PLA2G6	8398	HP:0001332	Dystonia
OMIM:610217	PLA2G6	8398	HP:0000752	Hyperactivity
OMIM:610217	PLA2G6	8398	HP:0003812	Phenotypic variability
OMIM:610217	PLA2G6	8398	HP:0001310	Dysmetria
OMIM:610217	PLA2G6	8398	HP:0011968	Feeding difficulties
OMIM:610217	PLA2G6	8398	HP:0002072	Chorea
OMIM:610217	PLA2G6	8398	HP:0000007	Autosomal recessive inheritance
OMIM:610217	PLA2G6	8398	HP:0000750	Delayed speech and language development
OMIM:610217	PLA2G6	8398	HP:0001250	Seizures
OMIM:610217	PLA2G6	8398	HP:0003676	Progressive
OMIM:610217	PLA2G6	8398	HP:0001268	Mental deterioration
OMIM:610217	PLA2G6	8398	HP:0002075	Dysdiadochokinesis
OMIM:610217	PLA2G6	8398	HP:0002015	Dysphagia
OMIM:610217	PLA2G6	8398	HP:0000736	Short attention span
OMIM:610217	PLA2G6	8398	HP:0002059	Cerebral atrophy
OMIM:610217	PLA2G6	8398	HP:0000712	Emotional lability
OMIM:615938	AKT3	10000	HP:0001162	Postaxial hand polydactyly
OMIM:615938	AKT3	10000	HP:0001263	Global developmental delay
OMIM:615938	AKT3	10000	HP:0000238	Hydrocephalus
OMIM:615938	AKT3	10000	HP:0002119	Ventriculomegaly
OMIM:615938	AKT3	10000	HP:0002126	Polymicrogyria
OMIM:615938	AKT3	10000	HP:0000256	Macrocephaly
OMIM:615938	AKT3	10000	HP:0011220	Prominent forehead
OMIM:615938	PIK3R2	5296	HP:0001162	Postaxial hand polydactyly
OMIM:615938	PIK3R2	5296	HP:0001263	Global developmental delay
OMIM:615938	PIK3R2	5296	HP:0000238	Hydrocephalus
OMIM:615938	PIK3R2	5296	HP:0002119	Ventriculomegaly
OMIM:615938	PIK3R2	5296	HP:0002126	Polymicrogyria
OMIM:615938	PIK3R2	5296	HP:0000256	Macrocephaly
OMIM:615938	PIK3R2	5296	HP:0011220	Prominent forehead
OMIM:615938	CCND2	894	HP:0001162	Postaxial hand polydactyly
OMIM:615938	CCND2	894	HP:0001263	Global developmental delay
OMIM:615938	CCND2	894	HP:0000238	Hydrocephalus
OMIM:615938	CCND2	894	HP:0002119	Ventriculomegaly
OMIM:615938	CCND2	894	HP:0002126	Polymicrogyria
OMIM:615938	CCND2	894	HP:0000256	Macrocephaly
OMIM:615938	CCND2	894	HP:0011220	Prominent forehead
OMIM:115210	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:115210	TNNI3	7137	HP:0002119	Ventriculomegaly
OMIM:115210	TNNI3	7137	HP:0001723	Restrictive cardiomyopathy
OMIM:115210	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:115210	TNNT2	7139	HP:0002119	Ventriculomegaly
OMIM:115210	TNNT2	7139	HP:0001723	Restrictive cardiomyopathy
OMIM:115210	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:115210	MYPN	84665	HP:0002119	Ventriculomegaly
OMIM:115210	MYPN	84665	HP:0001723	Restrictive cardiomyopathy
OMIM:300448	ATRX	546	HP:0000978	Bruising susceptibility
OMIM:300448	ATRX	546	HP:0001873	Thrombocytopenia
OMIM:300448	ATRX	546	HP:0002863	Myelodysplasia
OMIM:300448	ATRX	546	HP:0001744	Splenomegaly
OMIM:300448	ATRX	546	HP:0002093	Respiratory insufficiency
OMIM:300448	ATRX	546	HP:0002488	Acute leukemia
OMIM:300448	ATRX	546	HP:0010978	Abnormality of immune system physiology
OMIM:300448	ATRX	546	HP:0001928	Abnormality of coagulation
OMIM:300448	ATRX	546	HP:0001874	Abnormality of neutrophils
OMIM:300717	FHL1	2273	HP:0001371	Flexion contracture
OMIM:300717	FHL1	2273	HP:0001265	Hyporeflexia
OMIM:300717	FHL1	2273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300717	FHL1	2273	HP:0001423	X-linked dominant inheritance
OMIM:300717	FHL1	2273	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300717	FHL1	2273	HP:0001284	Areflexia
OMIM:300717	FHL1	2273	HP:0003678	Rapidly progressive
OMIM:300717	FHL1	2273	HP:0003701	Proximal muscle weakness
OMIM:178635	SFTPD	6441	HP:0002715	Abnormality of the immune system
OMIM:178635	SFTPD	6441	HP:0000006	Autosomal dominant inheritance
OMIM:184840	COL11A2	1302	HP:0000272	Malar flattening
OMIM:184840	COL11A2	1302	HP:0000463	Anteverted nares
OMIM:184840	COL11A2	1302	HP:0001163	Abnormality of the metacarpal bones
OMIM:184840	COL11A2	1302	HP:0000162	Glossoptosis
OMIM:184840	COL11A2	1302	HP:0000175	Cleft palate
OMIM:184840	COL11A2	1302	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:184840	COL11A2	1302	HP:0000347	Micrognathia
OMIM:184840	COL11A2	1302	HP:0100777	Exostoses
OMIM:184840	COL11A2	1302	HP:0000343	Long philtrum
OMIM:184840	COL11A2	1302	HP:0002829	Arthralgia
OMIM:184840	COL11A2	1302	HP:0000926	Platyspondyly
OMIM:184840	COL11A2	1302	HP:0002758	Osteoarthritis
OMIM:184840	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:184840	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:184840	COL11A2	1302	HP:0000201	Pierre-Robin sequence
OMIM:184840	COL11A2	1302	HP:0000768	Pectus carinatum
OMIM:184840	COL11A2	1302	HP:0011800	Hypoplasia of midface
OMIM:184840	COL11A2	1302	HP:0000767	Pectus excavatum
OMIM:184840	COL11A2	1302	HP:0000478	Abnormality of the eye
OMIM:600274	MAPT	4137	HP:0002463	Language impairment
OMIM:600274	MAPT	4137	HP:0002529	Neuronal loss in central nervous system
OMIM:600274	MAPT	4137	HP:0007354	Amyotrophic lateral sclerosis
OMIM:600274	MAPT	4137	HP:0000737	Irritability
OMIM:600274	MAPT	4137	HP:0000741	Apathy
OMIM:600274	MAPT	4137	HP:0000006	Autosomal dominant inheritance
OMIM:600274	MAPT	4137	HP:0001300	Parkinsonism
OMIM:600274	PSEN1	5663	HP:0002463	Language impairment
OMIM:600274	PSEN1	5663	HP:0002529	Neuronal loss in central nervous system
OMIM:600274	PSEN1	5663	HP:0007354	Amyotrophic lateral sclerosis
OMIM:600274	PSEN1	5663	HP:0000737	Irritability
OMIM:600274	PSEN1	5663	HP:0000741	Apathy
OMIM:600274	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:600274	PSEN1	5663	HP:0001300	Parkinsonism
OMIM:605373	SDHA	6389	HP:0003581	Adult onset
OMIM:605373	SDHA	6389	HP:0001649	Tachycardia
OMIM:605373	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:605373	SDHA	6389	HP:0000975	Hyperhidrosis
OMIM:605373	SDHA	6389	HP:0001962	Palpitations
OMIM:605373	SDHAF2	54949	HP:0003581	Adult onset
OMIM:605373	SDHAF2	54949	HP:0001649	Tachycardia
OMIM:605373	SDHAF2	54949	HP:0000006	Autosomal dominant inheritance
OMIM:605373	SDHAF2	54949	HP:0000975	Hyperhidrosis
OMIM:605373	SDHAF2	54949	HP:0001962	Palpitations
OMIM:605373	MAX	4149	HP:0003581	Adult onset
OMIM:605373	MAX	4149	HP:0001649	Tachycardia
OMIM:605373	MAX	4149	HP:0000006	Autosomal dominant inheritance
OMIM:605373	MAX	4149	HP:0000975	Hyperhidrosis
OMIM:605373	MAX	4149	HP:0001962	Palpitations
OMIM:605373	SDHB	6390	HP:0003581	Adult onset
OMIM:605373	SDHB	6390	HP:0001649	Tachycardia
OMIM:605373	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:605373	SDHB	6390	HP:0000975	Hyperhidrosis
OMIM:605373	SDHB	6390	HP:0001962	Palpitations
OMIM:605373	TMEM127	55654	HP:0003581	Adult onset
OMIM:605373	TMEM127	55654	HP:0001649	Tachycardia
OMIM:605373	TMEM127	55654	HP:0000006	Autosomal dominant inheritance
OMIM:605373	TMEM127	55654	HP:0000975	Hyperhidrosis
OMIM:605373	TMEM127	55654	HP:0001962	Palpitations
OMIM:605373	SDHC	6391	HP:0003581	Adult onset
OMIM:605373	SDHC	6391	HP:0001649	Tachycardia
OMIM:605373	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:605373	SDHC	6391	HP:0000975	Hyperhidrosis
OMIM:605373	SDHC	6391	HP:0001962	Palpitations
OMIM:605373	SDHD	6392	HP:0003581	Adult onset
OMIM:605373	SDHD	6392	HP:0001649	Tachycardia
OMIM:605373	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:605373	SDHD	6392	HP:0000975	Hyperhidrosis
OMIM:605373	SDHD	6392	HP:0001962	Palpitations
OMIM:605373	RET	5979	HP:0003581	Adult onset
OMIM:605373	RET	5979	HP:0001649	Tachycardia
OMIM:605373	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:605373	RET	5979	HP:0000975	Hyperhidrosis
OMIM:605373	RET	5979	HP:0001962	Palpitations
OMIM:605373	FH	2271	HP:0003581	Adult onset
OMIM:605373	FH	2271	HP:0001649	Tachycardia
OMIM:605373	FH	2271	HP:0000006	Autosomal dominant inheritance
OMIM:605373	FH	2271	HP:0000975	Hyperhidrosis
OMIM:605373	FH	2271	HP:0001962	Palpitations
OMIM:314250	TAF1	6872	HP:0001336	Myoclonus
OMIM:314250	TAF1	6872	HP:0003581	Adult onset
OMIM:314250	TAF1	6872	HP:0002072	Chorea
OMIM:314250	TAF1	6872	HP:0001419	X-linked recessive inheritance
OMIM:314250	TAF1	6872	HP:0001337	Tremor
OMIM:314250	TAF1	6872	HP:0001304	Torsion dystonia
OMIM:265450	BMPR2	659	HP:0000006	Autosomal dominant inheritance
OMIM:265450	EIF2AK4	440275	HP:0000006	Autosomal dominant inheritance
OMIM:215300	EXT1	2131	HP:0000007	Autosomal recessive inheritance
OMIM:600193	SOX10	6663	HP:0000271	Abnormality of the face
OMIM:600193	SOX10	6663	HP:0001100	Heterochromia iridis
OMIM:600193	SOX10	6663	HP:0002216	Premature graying of hair
OMIM:600193	SOX10	6663	HP:0000407	Sensorineural hearing impairment
OMIM:600193	SOX10	6663	HP:0002211	White forelock
OMIM:600193	MITF	4286	HP:0000271	Abnormality of the face
OMIM:600193	MITF	4286	HP:0001100	Heterochromia iridis
OMIM:600193	MITF	4286	HP:0002216	Premature graying of hair
OMIM:600193	MITF	4286	HP:0000407	Sensorineural hearing impairment
OMIM:600193	MITF	4286	HP:0002211	White forelock
OMIM:600193	SNAI2	6591	HP:0000271	Abnormality of the face
OMIM:600193	SNAI2	6591	HP:0001100	Heterochromia iridis
OMIM:600193	SNAI2	6591	HP:0002216	Premature graying of hair
OMIM:600193	SNAI2	6591	HP:0000407	Sensorineural hearing impairment
OMIM:600193	SNAI2	6591	HP:0002211	White forelock
OMIM:605809	MUSK	4593	HP:0003577	Congenital onset
OMIM:605809	MUSK	4593	HP:0002015	Dysphagia
OMIM:605809	MUSK	4593	HP:0000597	Ophthalmoparesis
OMIM:605809	MUSK	4593	HP:0002033	Poor suck
OMIM:605809	MUSK	4593	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:605809	MUSK	4593	HP:0000007	Autosomal recessive inheritance
OMIM:605809	MUSK	4593	HP:0001283	Bulbar palsy
OMIM:605809	MUSK	4593	HP:0003690	Limb muscle weakness
OMIM:605809	MUSK	4593	HP:0008872	Feeding difficulties in infancy
OMIM:605809	MUSK	4593	HP:0000508	Ptosis
OMIM:605809	MUSK	4593	HP:0001290	Generalized hypotonia
OMIM:605809	MUSK	4593	HP:0002098	Respiratory distress
OMIM:605809	MUSK	4593	HP:0000486	Strabismus
OMIM:605809	CHRNB1	1140	HP:0003577	Congenital onset
OMIM:605809	CHRNB1	1140	HP:0002015	Dysphagia
OMIM:605809	CHRNB1	1140	HP:0000597	Ophthalmoparesis
OMIM:605809	CHRNB1	1140	HP:0002033	Poor suck
OMIM:605809	CHRNB1	1140	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:605809	CHRNB1	1140	HP:0000007	Autosomal recessive inheritance
OMIM:605809	CHRNB1	1140	HP:0001283	Bulbar palsy
OMIM:605809	CHRNB1	1140	HP:0003690	Limb muscle weakness
OMIM:605809	CHRNB1	1140	HP:0008872	Feeding difficulties in infancy
OMIM:605809	CHRNB1	1140	HP:0000508	Ptosis
OMIM:605809	CHRNB1	1140	HP:0001290	Generalized hypotonia
OMIM:605809	CHRNB1	1140	HP:0002098	Respiratory distress
OMIM:605809	CHRNB1	1140	HP:0000486	Strabismus
OMIM:605809	DOK7	285489	HP:0003577	Congenital onset
OMIM:605809	DOK7	285489	HP:0002015	Dysphagia
OMIM:605809	DOK7	285489	HP:0000597	Ophthalmoparesis
OMIM:605809	DOK7	285489	HP:0002033	Poor suck
OMIM:605809	DOK7	285489	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:605809	DOK7	285489	HP:0000007	Autosomal recessive inheritance
OMIM:605809	DOK7	285489	HP:0001283	Bulbar palsy
OMIM:605809	DOK7	285489	HP:0003690	Limb muscle weakness
OMIM:605809	DOK7	285489	HP:0008872	Feeding difficulties in infancy
OMIM:605809	DOK7	285489	HP:0000508	Ptosis
OMIM:605809	DOK7	285489	HP:0001290	Generalized hypotonia
OMIM:605809	DOK7	285489	HP:0002098	Respiratory distress
OMIM:605809	DOK7	285489	HP:0000486	Strabismus
OMIM:605809	LRP4	4038	HP:0003577	Congenital onset
OMIM:605809	LRP4	4038	HP:0002015	Dysphagia
OMIM:605809	LRP4	4038	HP:0000597	Ophthalmoparesis
OMIM:605809	LRP4	4038	HP:0002033	Poor suck
OMIM:605809	LRP4	4038	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:605809	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:605809	LRP4	4038	HP:0001283	Bulbar palsy
OMIM:605809	LRP4	4038	HP:0003690	Limb muscle weakness
OMIM:605809	LRP4	4038	HP:0008872	Feeding difficulties in infancy
OMIM:605809	LRP4	4038	HP:0000508	Ptosis
OMIM:605809	LRP4	4038	HP:0001290	Generalized hypotonia
OMIM:605809	LRP4	4038	HP:0002098	Respiratory distress
OMIM:605809	LRP4	4038	HP:0000486	Strabismus
OMIM:605809	CHRND	1144	HP:0003577	Congenital onset
OMIM:605809	CHRND	1144	HP:0002015	Dysphagia
OMIM:605809	CHRND	1144	HP:0000597	Ophthalmoparesis
OMIM:605809	CHRND	1144	HP:0002033	Poor suck
OMIM:605809	CHRND	1144	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:605809	CHRND	1144	HP:0000007	Autosomal recessive inheritance
OMIM:605809	CHRND	1144	HP:0001283	Bulbar palsy
OMIM:605809	CHRND	1144	HP:0003690	Limb muscle weakness
OMIM:605809	CHRND	1144	HP:0008872	Feeding difficulties in infancy
OMIM:605809	CHRND	1144	HP:0000508	Ptosis
OMIM:605809	CHRND	1144	HP:0001290	Generalized hypotonia
OMIM:605809	CHRND	1144	HP:0002098	Respiratory distress
OMIM:605809	CHRND	1144	HP:0000486	Strabismus
OMIM:605809	CHRNE	1145	HP:0003577	Congenital onset
OMIM:605809	CHRNE	1145	HP:0002015	Dysphagia
OMIM:605809	CHRNE	1145	HP:0000597	Ophthalmoparesis
OMIM:605809	CHRNE	1145	HP:0002033	Poor suck
OMIM:605809	CHRNE	1145	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:605809	CHRNE	1145	HP:0000007	Autosomal recessive inheritance
OMIM:605809	CHRNE	1145	HP:0001283	Bulbar palsy
OMIM:605809	CHRNE	1145	HP:0003690	Limb muscle weakness
OMIM:605809	CHRNE	1145	HP:0008872	Feeding difficulties in infancy
OMIM:605809	CHRNE	1145	HP:0000508	Ptosis
OMIM:605809	CHRNE	1145	HP:0001290	Generalized hypotonia
OMIM:605809	CHRNE	1145	HP:0002098	Respiratory distress
OMIM:605809	CHRNE	1145	HP:0000486	Strabismus
OMIM:605809	RAPSN	5913	HP:0003577	Congenital onset
OMIM:605809	RAPSN	5913	HP:0002015	Dysphagia
OMIM:605809	RAPSN	5913	HP:0000597	Ophthalmoparesis
OMIM:605809	RAPSN	5913	HP:0002033	Poor suck
OMIM:605809	RAPSN	5913	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:605809	RAPSN	5913	HP:0000007	Autosomal recessive inheritance
OMIM:605809	RAPSN	5913	HP:0001283	Bulbar palsy
OMIM:605809	RAPSN	5913	HP:0003690	Limb muscle weakness
OMIM:605809	RAPSN	5913	HP:0008872	Feeding difficulties in infancy
OMIM:605809	RAPSN	5913	HP:0000508	Ptosis
OMIM:605809	RAPSN	5913	HP:0001290	Generalized hypotonia
OMIM:605809	RAPSN	5913	HP:0002098	Respiratory distress
OMIM:605809	RAPSN	5913	HP:0000486	Strabismus
OMIM:605809	SCN4A	6329	HP:0003577	Congenital onset
OMIM:605809	SCN4A	6329	HP:0002015	Dysphagia
OMIM:605809	SCN4A	6329	HP:0000597	Ophthalmoparesis
OMIM:605809	SCN4A	6329	HP:0002033	Poor suck
OMIM:605809	SCN4A	6329	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:605809	SCN4A	6329	HP:0000007	Autosomal recessive inheritance
OMIM:605809	SCN4A	6329	HP:0001283	Bulbar palsy
OMIM:605809	SCN4A	6329	HP:0003690	Limb muscle weakness
OMIM:605809	SCN4A	6329	HP:0008872	Feeding difficulties in infancy
OMIM:605809	SCN4A	6329	HP:0000508	Ptosis
OMIM:605809	SCN4A	6329	HP:0001290	Generalized hypotonia
OMIM:605809	SCN4A	6329	HP:0002098	Respiratory distress
OMIM:605809	SCN4A	6329	HP:0000486	Strabismus
OMIM:605809	AGRN	375790	HP:0003577	Congenital onset
OMIM:605809	AGRN	375790	HP:0002015	Dysphagia
OMIM:605809	AGRN	375790	HP:0000597	Ophthalmoparesis
OMIM:605809	AGRN	375790	HP:0002033	Poor suck
OMIM:605809	AGRN	375790	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:605809	AGRN	375790	HP:0000007	Autosomal recessive inheritance
OMIM:605809	AGRN	375790	HP:0001283	Bulbar palsy
OMIM:605809	AGRN	375790	HP:0003690	Limb muscle weakness
OMIM:605809	AGRN	375790	HP:0008872	Feeding difficulties in infancy
OMIM:605809	AGRN	375790	HP:0000508	Ptosis
OMIM:605809	AGRN	375790	HP:0001290	Generalized hypotonia
OMIM:605809	AGRN	375790	HP:0002098	Respiratory distress
OMIM:605809	AGRN	375790	HP:0000486	Strabismus
OMIM:605809	CHRNA1	1134	HP:0003577	Congenital onset
OMIM:605809	CHRNA1	1134	HP:0002015	Dysphagia
OMIM:605809	CHRNA1	1134	HP:0000597	Ophthalmoparesis
OMIM:605809	CHRNA1	1134	HP:0002033	Poor suck
OMIM:605809	CHRNA1	1134	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:605809	CHRNA1	1134	HP:0000007	Autosomal recessive inheritance
OMIM:605809	CHRNA1	1134	HP:0001283	Bulbar palsy
OMIM:605809	CHRNA1	1134	HP:0003690	Limb muscle weakness
OMIM:605809	CHRNA1	1134	HP:0008872	Feeding difficulties in infancy
OMIM:605809	CHRNA1	1134	HP:0000508	Ptosis
OMIM:605809	CHRNA1	1134	HP:0001290	Generalized hypotonia
OMIM:605809	CHRNA1	1134	HP:0002098	Respiratory distress
OMIM:605809	CHRNA1	1134	HP:0000486	Strabismus
OMIM:212780	APC	324	HP:0002983	Micromelia
OMIM:212780	APC	324	HP:0001601	Laryngomalacia
OMIM:212780	APC	324	HP:0001163	Abnormality of the metacarpal bones
OMIM:212780	APC	324	HP:0000639	Nystagmus
OMIM:212780	APC	324	HP:0000104	Renal agenesis
OMIM:212780	APC	324	HP:0000494	Downslanted palpebral fissures
OMIM:212780	APC	324	HP:0002984	Hypoplasia of the radius
OMIM:212780	APC	324	HP:0003022	Hypoplasia of the ulna
OMIM:212780	APC	324	HP:0000682	Abnormality of dental enamel
OMIM:212780	APC	324	HP:0000316	Hypertelorism
OMIM:212780	APC	324	HP:0000322	Short philtrum
OMIM:212780	APC	324	HP:0002974	Radioulnar synostosis
OMIM:212780	APC	324	HP:0003196	Short nose
OMIM:212780	APC	324	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:212780	APC	324	HP:0000347	Micrognathia
OMIM:212780	APC	324	HP:0000520	Proptosis
OMIM:212780	APC	324	HP:0003272	Abnormality of the hip bone
OMIM:212780	APC	324	HP:0000365	Hearing impairment
OMIM:212780	APC	324	HP:0007477	Abnormal dermatoglyphics
OMIM:212780	APC	324	HP:0002007	Frontal bossing
OMIM:212780	APC	324	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:212780	APC	324	HP:0008678	Renal hypoplasia/aplasia
OMIM:212780	APC	324	HP:0002650	Scoliosis
OMIM:212780	APC	324	HP:0000174	Abnormality of the palate
OMIM:212780	APC	324	HP:0010624	Aplastic/hypoplastic toenail
OMIM:212780	APC	324	HP:0000772	Abnormality of the ribs
OMIM:212780	APC	324	HP:0000007	Autosomal recessive inheritance
OMIM:212780	APC	324	HP:0000821	Hypothyroidism
OMIM:212780	APC	324	HP:0003422	Vertebral segmentation defect
OMIM:212780	APC	324	HP:0011220	Prominent forehead
OMIM:212780	APC	324	HP:0005048	Synostosis of carpal bones
OMIM:212780	APC	324	HP:0001171	Split hand
OMIM:212780	APC	324	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:212780	APC	324	HP:0009804	Reduced number of teeth
OMIM:212780	APC	324	HP:0000444	Convex nasal ridge
OMIM:212780	APC	324	HP:0000508	Ptosis
OMIM:212780	APC	324	HP:0000518	Cataract
OMIM:212780	APC	324	HP:0000377	Abnormality of the pinna
OMIM:212780	APC	324	HP:0000089	Renal hypoplasia
OMIM:212780	APC	324	HP:0003042	Elbow dislocation
OMIM:212780	APC	324	HP:0001770	Toe syndactyly
OMIM:212780	APC	324	HP:0001159	Syndactyly
OMIM:212780	APC	324	HP:0006101	Finger syndactyly
OMIM:212780	APC	324	HP:0001798	Anonychia
OMIM:212780	APC	324	HP:0100542	Abnormal localization of kidney
OMIM:212780	LRP4	4038	HP:0002983	Micromelia
OMIM:212780	LRP4	4038	HP:0001601	Laryngomalacia
OMIM:212780	LRP4	4038	HP:0001163	Abnormality of the metacarpal bones
OMIM:212780	LRP4	4038	HP:0000639	Nystagmus
OMIM:212780	LRP4	4038	HP:0000104	Renal agenesis
OMIM:212780	LRP4	4038	HP:0000494	Downslanted palpebral fissures
OMIM:212780	LRP4	4038	HP:0002984	Hypoplasia of the radius
OMIM:212780	LRP4	4038	HP:0003022	Hypoplasia of the ulna
OMIM:212780	LRP4	4038	HP:0000682	Abnormality of dental enamel
OMIM:212780	LRP4	4038	HP:0000316	Hypertelorism
OMIM:212780	LRP4	4038	HP:0000322	Short philtrum
OMIM:212780	LRP4	4038	HP:0002974	Radioulnar synostosis
OMIM:212780	LRP4	4038	HP:0003196	Short nose
OMIM:212780	LRP4	4038	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:212780	LRP4	4038	HP:0000347	Micrognathia
OMIM:212780	LRP4	4038	HP:0000520	Proptosis
OMIM:212780	LRP4	4038	HP:0003272	Abnormality of the hip bone
OMIM:212780	LRP4	4038	HP:0000365	Hearing impairment
OMIM:212780	LRP4	4038	HP:0007477	Abnormal dermatoglyphics
OMIM:212780	LRP4	4038	HP:0002007	Frontal bossing
OMIM:212780	LRP4	4038	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:212780	LRP4	4038	HP:0008678	Renal hypoplasia/aplasia
OMIM:212780	LRP4	4038	HP:0002650	Scoliosis
OMIM:212780	LRP4	4038	HP:0000174	Abnormality of the palate
OMIM:212780	LRP4	4038	HP:0010624	Aplastic/hypoplastic toenail
OMIM:212780	LRP4	4038	HP:0000772	Abnormality of the ribs
OMIM:212780	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:212780	LRP4	4038	HP:0000821	Hypothyroidism
OMIM:212780	LRP4	4038	HP:0003422	Vertebral segmentation defect
OMIM:212780	LRP4	4038	HP:0011220	Prominent forehead
OMIM:212780	LRP4	4038	HP:0005048	Synostosis of carpal bones
OMIM:212780	LRP4	4038	HP:0001171	Split hand
OMIM:212780	LRP4	4038	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:212780	LRP4	4038	HP:0009804	Reduced number of teeth
OMIM:212780	LRP4	4038	HP:0000444	Convex nasal ridge
OMIM:212780	LRP4	4038	HP:0000508	Ptosis
OMIM:212780	LRP4	4038	HP:0000518	Cataract
OMIM:212780	LRP4	4038	HP:0000377	Abnormality of the pinna
OMIM:212780	LRP4	4038	HP:0000089	Renal hypoplasia
OMIM:212780	LRP4	4038	HP:0003042	Elbow dislocation
OMIM:212780	LRP4	4038	HP:0001770	Toe syndactyly
OMIM:212780	LRP4	4038	HP:0001159	Syndactyly
OMIM:212780	LRP4	4038	HP:0006101	Finger syndactyly
OMIM:212780	LRP4	4038	HP:0001798	Anonychia
OMIM:212780	LRP4	4038	HP:0100542	Abnormal localization of kidney
OMIM:615924	BSCL2	26580	HP:0001268	Mental deterioration
OMIM:615924	BSCL2	26580	HP:0001347	Hyperreflexia
OMIM:615924	BSCL2	26580	HP:0001257	Spasticity
OMIM:615924	BSCL2	26580	HP:0002059	Cerebral atrophy
OMIM:615924	BSCL2	26580	HP:0002240	Hepatomegaly
OMIM:615924	BSCL2	26580	HP:0002371	Loss of speech
OMIM:615924	BSCL2	26580	HP:0001250	Seizures
OMIM:615924	BSCL2	26580	HP:0002376	Developmental regression
OMIM:615924	BSCL2	26580	HP:0001251	Ataxia
OMIM:615924	BSCL2	26580	HP:0001332	Dystonia
OMIM:615924	BSCL2	26580	HP:0002529	Neuronal loss in central nervous system
OMIM:615924	BSCL2	26580	HP:0001337	Tremor
OMIM:615924	BSCL2	26580	HP:0002155	Hypertriglyceridemia
OMIM:615924	BSCL2	26580	HP:0007256	Abnormal pyramidal signs
OMIM:615924	BSCL2	26580	HP:0000750	Delayed speech and language development
OMIM:615924	BSCL2	26580	HP:0000752	Hyperactivity
OMIM:615924	BSCL2	26580	HP:0001298	Encephalopathy
OMIM:615924	BSCL2	26580	HP:0001336	Myoclonus
OMIM:268100	NR2E3	10002	HP:0001146	Pigmentary retinal degeneration
OMIM:268100	NR2E3	10002	HP:0012047	Hemeralopia
OMIM:268100	NR2E3	10002	HP:0040049	Macular edema
OMIM:268100	NR2E3	10002	HP:0000655	Vitreoretinal degeneration
OMIM:268100	NR2E3	10002	HP:0000550	Undetectable electroretinogram
OMIM:268100	NR2E3	10002	HP:0000518	Cataract
OMIM:268100	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:268100	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:616362	PPP2R1A	5518	HP:0010055	Broad hallux
OMIM:616362	PPP2R1A	5518	HP:0001250	Seizures
OMIM:616362	PPP2R1A	5518	HP:0001252	Muscular hypotonia
OMIM:616362	PPP2R1A	5518	HP:0000238	Hydrocephalus
OMIM:616362	PPP2R1A	5518	HP:0002119	Ventriculomegaly
OMIM:616362	PPP2R1A	5518	HP:0000324	Facial asymmetry
OMIM:616362	PPP2R1A	5518	HP:0009179	Deviation of the 5th finger
OMIM:616362	PPP2R1A	5518	HP:0001382	Joint hypermobility
OMIM:616362	PPP2R1A	5518	HP:0002540	Inability to walk
OMIM:616362	PPP2R1A	5518	HP:0000194	Open mouth
OMIM:616362	PPP2R1A	5518	HP:0000252	Microcephaly
OMIM:616362	PPP2R1A	5518	HP:0000463	Anteverted nares
OMIM:616362	PPP2R1A	5518	HP:0001249	Intellectual disability
OMIM:616362	PPP2R1A	5518	HP:0000767	Pectus excavatum
OMIM:616362	PPP2R1A	5518	HP:0001357	Plagiocephaly
OMIM:616362	PPP2R1A	5518	HP:0002194	Delayed gross motor development
OMIM:616362	PPP2R1A	5518	HP:0000494	Downslanted palpebral fissures
OMIM:616362	PPP2R1A	5518	HP:0000316	Hypertelorism
OMIM:616362	PPP2R1A	5518	HP:0000006	Autosomal dominant inheritance
OMIM:616362	PPP2R1A	5518	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616362	PPP2R1A	5518	HP:0001263	Global developmental delay
OMIM:616362	PPP2R1A	5518	HP:0010721	Abnormal hair whorl
OMIM:616362	PPP2R1A	5518	HP:0010804	Tented upper lip vermilion
OMIM:616362	PPP2R1A	5518	HP:0012448	Delayed myelination
OMIM:259720	OSTM1	28962	HP:0000007	Autosomal recessive inheritance
OMIM:259720	OSTM1	28962	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:259720	OSTM1	28962	HP:0000238	Hydrocephalus
OMIM:259720	OSTM1	28962	HP:0003826	Stillbirth
OMIM:614129	CLPP	8192	HP:0000407	Sensorineural hearing impairment
OMIM:614129	CLPP	8192	HP:0000786	Primary amenorrhea
OMIM:614129	CLPP	8192	HP:0000007	Autosomal recessive inheritance
OMIM:614129	CLPP	8192	HP:0000815	Hypergonadotropic hypogonadism
OMIM:614129	CLPP	8192	HP:0000013	Hypoplasia of the uterus
OMIM:614129	CLPP	8192	HP:0004322	Short stature
OMIM:614129	CLPP	8192	HP:0001250	Seizures
OMIM:614129	CLPP	8192	HP:0000252	Microcephaly
OMIM:614129	LARS2	23395	HP:0000407	Sensorineural hearing impairment
OMIM:614129	LARS2	23395	HP:0000786	Primary amenorrhea
OMIM:614129	LARS2	23395	HP:0000007	Autosomal recessive inheritance
OMIM:614129	LARS2	23395	HP:0000815	Hypergonadotropic hypogonadism
OMIM:614129	LARS2	23395	HP:0000013	Hypoplasia of the uterus
OMIM:614129	LARS2	23395	HP:0004322	Short stature
OMIM:614129	LARS2	23395	HP:0001250	Seizures
OMIM:614129	LARS2	23395	HP:0000252	Microcephaly
OMIM:614129	C10ORF2	56652	HP:0000407	Sensorineural hearing impairment
OMIM:614129	C10ORF2	56652	HP:0000786	Primary amenorrhea
OMIM:614129	C10ORF2	56652	HP:0000007	Autosomal recessive inheritance
OMIM:614129	C10ORF2	56652	HP:0000815	Hypergonadotropic hypogonadism
OMIM:614129	C10ORF2	56652	HP:0000013	Hypoplasia of the uterus
OMIM:614129	C10ORF2	56652	HP:0004322	Short stature
OMIM:614129	C10ORF2	56652	HP:0001250	Seizures
OMIM:614129	C10ORF2	56652	HP:0000252	Microcephaly
OMIM:614129	HARS2	23438	HP:0000407	Sensorineural hearing impairment
OMIM:614129	HARS2	23438	HP:0000786	Primary amenorrhea
OMIM:614129	HARS2	23438	HP:0000007	Autosomal recessive inheritance
OMIM:614129	HARS2	23438	HP:0000815	Hypergonadotropic hypogonadism
OMIM:614129	HARS2	23438	HP:0000013	Hypoplasia of the uterus
OMIM:614129	HARS2	23438	HP:0004322	Short stature
OMIM:614129	HARS2	23438	HP:0001250	Seizures
OMIM:614129	HARS2	23438	HP:0000252	Microcephaly
OMIM:614129	HSD17B4	3295	HP:0000407	Sensorineural hearing impairment
OMIM:614129	HSD17B4	3295	HP:0000786	Primary amenorrhea
OMIM:614129	HSD17B4	3295	HP:0000007	Autosomal recessive inheritance
OMIM:614129	HSD17B4	3295	HP:0000815	Hypergonadotropic hypogonadism
OMIM:614129	HSD17B4	3295	HP:0000013	Hypoplasia of the uterus
OMIM:614129	HSD17B4	3295	HP:0004322	Short stature
OMIM:614129	HSD17B4	3295	HP:0001250	Seizures
OMIM:614129	HSD17B4	3295	HP:0000252	Microcephaly
OMIM:602347	ABCB4	5244	HP:0001394	Cirrhosis
OMIM:602347	ABCB4	5244	HP:0002014	Diarrhea
OMIM:602347	ABCB4	5244	HP:0001408	Bile duct proliferation
OMIM:602347	ABCB4	5244	HP:0002910	Elevated hepatic transaminases
OMIM:602347	ABCB4	5244	HP:0000007	Autosomal recessive inheritance
OMIM:602347	ABCB4	5244	HP:0000989	Pruritus
OMIM:602347	ABCB4	5244	HP:0002024	Malabsorption
OMIM:602347	ABCB4	5244	HP:0000952	Jaundice
OMIM:602347	ABCB4	5244	HP:0002240	Hepatomegaly
OMIM:602347	ABCB4	5244	HP:0003593	Infantile onset
OMIM:602347	ABCB4	5244	HP:0001406	Intrahepatic cholestasis
OMIM:602347	ABCB4	5244	HP:0001744	Splenomegaly
OMIM:614115	LAMC3	10319	HP:0001263	Global developmental delay
OMIM:614115	LAMC3	10319	HP:0000572	Visual loss
OMIM:614115	LAMC3	10319	HP:0000007	Autosomal recessive inheritance
OMIM:614115	LAMC3	10319	HP:0002069	Generalized tonic-clonic seizures
OMIM:614115	LAMC3	10319	HP:0002353	EEG abnormality
OMIM:616151	IMPG1	3617	HP:0000006	Autosomal dominant inheritance
OMIM:616151	IMPG1	3617	HP:0007663	Reduced visual acuity
OMIM:616151	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:616151	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:616151	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:616151	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:616151	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:616151	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:616420	PYCR2	29920	HP:0001263	Global developmental delay
OMIM:616420	PYCR2	29920	HP:0003202	Skeletal muscle atrophy
OMIM:616420	PYCR2	29920	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616420	PYCR2	29920	HP:0000252	Microcephaly
OMIM:616420	PYCR2	29920	HP:0000582	Upslanted palpebral fissure
OMIM:616420	PYCR2	29920	HP:0003487	Babinski sign
OMIM:616420	PYCR2	29920	HP:0003429	CNS hypomyelination
OMIM:616420	PYCR2	29920	HP:0001344	Absent speech
OMIM:616420	PYCR2	29920	HP:0002540	Inability to walk
OMIM:616420	PYCR2	29920	HP:0000494	Downslanted palpebral fissures
OMIM:616420	PYCR2	29920	HP:0001347	Hyperreflexia
OMIM:616420	PYCR2	29920	HP:0008936	Muscular hypotonia of the trunk
OMIM:614491	WNK4	65266	HP:0000006	Autosomal dominant inheritance
OMIM:614491	WNK4	65266	HP:0002153	Hyperkalemia
OMIM:614491	WNK4	65266	HP:0008242	Pseudohypoaldosteronism
OMIM:614491	WNK4	65266	HP:0011423	Hyperchloremia
OMIM:614491	WNK4	65266	HP:0000822	Hypertension
OMIM:602400	ST14	6768	HP:0002299	Brittle hair
OMIM:602400	ST14	6768	HP:0000966	Hypohidrosis
OMIM:602400	ST14	6768	HP:0007957	Corneal opacity
OMIM:602400	ST14	6768	HP:0000613	Photophobia
OMIM:602400	ST14	6768	HP:0008070	Sparse hair
OMIM:602400	ST14	6768	HP:0000535	Sparse eyebrow
OMIM:602400	ST14	6768	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:602400	ST14	6768	HP:0008064	Ichthyosis
OMIM:602400	ST14	6768	HP:0000007	Autosomal recessive inheritance
OMIM:602400	ST14	6768	HP:0011362	Abnormal hair quantity
OMIM:602400	ST14	6768	HP:0000498	Blepharitis
OMIM:602400	ST14	6768	HP:0003777	Pili torti
OMIM:602400	ST14	6768	HP:0002212	Curly hair
OMIM:210600	ATR	545	HP:0000448	Prominent nose
OMIM:210600	ATR	545	HP:0000007	Autosomal recessive inheritance
OMIM:210600	ATR	545	HP:0000175	Cleft palate
OMIM:210600	ATR	545	HP:0001763	Pes planus
OMIM:210600	ATR	545	HP:0000494	Downslanted palpebral fissures
OMIM:210600	ATR	545	HP:0000369	Low-set ears
OMIM:210600	ATR	545	HP:0002987	Elbow flexion contracture
OMIM:210600	ATR	545	HP:0000340	Sloping forehead
OMIM:210600	ATR	545	HP:0001511	Intrauterine growth retardation
OMIM:210600	ATR	545	HP:0000878	11 pairs of ribs
OMIM:210600	ATR	545	HP:0001250	Seizures
OMIM:210600	ATR	545	HP:0004209	Clinodactyly of the 5th finger
OMIM:210600	ATR	545	HP:0006297	Hypoplasia of dental enamel
OMIM:210600	ATR	545	HP:0006434	Hypoplasia of proximal radius
OMIM:210600	ATR	545	HP:0003083	Dislocated radial head
OMIM:210600	ATR	545	HP:0000581	Blepharophimosis
OMIM:210600	ATR	545	HP:0000752	Hyperactivity
OMIM:210600	ATR	545	HP:0000218	High palate
OMIM:210600	ATR	545	HP:0000486	Strabismus
OMIM:210600	ATR	545	HP:0000678	Dental crowding
OMIM:210600	ATR	545	HP:0000347	Micrognathia
OMIM:210600	ATR	545	HP:0002827	Hip dislocation
OMIM:210600	ATR	545	HP:0000028	Cryptorchidism
OMIM:210600	ATR	545	HP:0001852	Sandal gap
OMIM:210600	ATR	545	HP:0000057	Clitoromegaly
OMIM:210600	ATR	545	HP:0000377	Abnormality of the pinna
OMIM:210600	ATR	545	HP:0001090	Large eyes
OMIM:210600	ATR	545	HP:0001302	Pachygyria
OMIM:210600	ATR	545	HP:0003508	Proportionate short stature
OMIM:210600	ATR	545	HP:0000689	Dental malocclusion
OMIM:210600	ATR	545	HP:0002750	Delayed skeletal maturation
OMIM:210600	ATR	545	HP:0001592	Selective tooth agenesis
OMIM:210600	ATR	545	HP:0000237	Small anterior fontanelle
OMIM:210600	ATR	545	HP:0001883	Talipes
OMIM:210600	ATR	545	HP:0002650	Scoliosis
OMIM:210600	ATR	545	HP:0000252	Microcephaly
OMIM:210600	ATR	545	HP:0006143	Abnormal finger flexion creases
OMIM:210600	ATR	545	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:210600	ATR	545	HP:0010583	Ivory epiphyses
OMIM:210600	ATR	545	HP:0000047	Hypospadias
OMIM:210600	ATR	545	HP:0006442	Hypoplasia of proximal fibula
OMIM:210600	ATR	545	HP:0000444	Convex nasal ridge
OMIM:210600	ATR	545	HP:0000954	Single transverse palmar crease
OMIM:210600	ATR	545	HP:0001249	Intellectual disability
OMIM:210600	ATR	545	HP:0007048	Large basal ganglia
OMIM:210600	ATR	545	HP:0000324	Facial asymmetry
OMIM:210600	ATR	545	HP:0001876	Pancytopenia
OMIM:210600	ATR	545	HP:0001320	Cerebellar vermis hypoplasia
OMIM:210600	CEP152	22995	HP:0000448	Prominent nose
OMIM:210600	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:210600	CEP152	22995	HP:0000175	Cleft palate
OMIM:210600	CEP152	22995	HP:0001763	Pes planus
OMIM:210600	CEP152	22995	HP:0000494	Downslanted palpebral fissures
OMIM:210600	CEP152	22995	HP:0000369	Low-set ears
OMIM:210600	CEP152	22995	HP:0002987	Elbow flexion contracture
OMIM:210600	CEP152	22995	HP:0000340	Sloping forehead
OMIM:210600	CEP152	22995	HP:0001511	Intrauterine growth retardation
OMIM:210600	CEP152	22995	HP:0000878	11 pairs of ribs
OMIM:210600	CEP152	22995	HP:0001250	Seizures
OMIM:210600	CEP152	22995	HP:0004209	Clinodactyly of the 5th finger
OMIM:210600	CEP152	22995	HP:0006297	Hypoplasia of dental enamel
OMIM:210600	CEP152	22995	HP:0006434	Hypoplasia of proximal radius
OMIM:210600	CEP152	22995	HP:0003083	Dislocated radial head
OMIM:210600	CEP152	22995	HP:0000581	Blepharophimosis
OMIM:210600	CEP152	22995	HP:0000752	Hyperactivity
OMIM:210600	CEP152	22995	HP:0000218	High palate
OMIM:210600	CEP152	22995	HP:0000486	Strabismus
OMIM:210600	CEP152	22995	HP:0000678	Dental crowding
OMIM:210600	CEP152	22995	HP:0000347	Micrognathia
OMIM:210600	CEP152	22995	HP:0002827	Hip dislocation
OMIM:210600	CEP152	22995	HP:0000028	Cryptorchidism
OMIM:210600	CEP152	22995	HP:0001852	Sandal gap
OMIM:210600	CEP152	22995	HP:0000057	Clitoromegaly
OMIM:210600	CEP152	22995	HP:0000377	Abnormality of the pinna
OMIM:210600	CEP152	22995	HP:0001090	Large eyes
OMIM:210600	CEP152	22995	HP:0001302	Pachygyria
OMIM:210600	CEP152	22995	HP:0003508	Proportionate short stature
OMIM:210600	CEP152	22995	HP:0000689	Dental malocclusion
OMIM:210600	CEP152	22995	HP:0002750	Delayed skeletal maturation
OMIM:210600	CEP152	22995	HP:0001592	Selective tooth agenesis
OMIM:210600	CEP152	22995	HP:0000237	Small anterior fontanelle
OMIM:210600	CEP152	22995	HP:0001883	Talipes
OMIM:210600	CEP152	22995	HP:0002650	Scoliosis
OMIM:210600	CEP152	22995	HP:0000252	Microcephaly
OMIM:210600	CEP152	22995	HP:0006143	Abnormal finger flexion creases
OMIM:210600	CEP152	22995	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:210600	CEP152	22995	HP:0010583	Ivory epiphyses
OMIM:210600	CEP152	22995	HP:0000047	Hypospadias
OMIM:210600	CEP152	22995	HP:0006442	Hypoplasia of proximal fibula
OMIM:210600	CEP152	22995	HP:0000444	Convex nasal ridge
OMIM:210600	CEP152	22995	HP:0000954	Single transverse palmar crease
OMIM:210600	CEP152	22995	HP:0001249	Intellectual disability
OMIM:210600	CEP152	22995	HP:0007048	Large basal ganglia
OMIM:210600	CEP152	22995	HP:0000324	Facial asymmetry
OMIM:210600	CEP152	22995	HP:0001876	Pancytopenia
OMIM:210600	CEP152	22995	HP:0001320	Cerebellar vermis hypoplasia
OMIM:210600	CENPE	1062	HP:0000448	Prominent nose
OMIM:210600	CENPE	1062	HP:0000007	Autosomal recessive inheritance
OMIM:210600	CENPE	1062	HP:0000175	Cleft palate
OMIM:210600	CENPE	1062	HP:0001763	Pes planus
OMIM:210600	CENPE	1062	HP:0000494	Downslanted palpebral fissures
OMIM:210600	CENPE	1062	HP:0000369	Low-set ears
OMIM:210600	CENPE	1062	HP:0002987	Elbow flexion contracture
OMIM:210600	CENPE	1062	HP:0000340	Sloping forehead
OMIM:210600	CENPE	1062	HP:0001511	Intrauterine growth retardation
OMIM:210600	CENPE	1062	HP:0000878	11 pairs of ribs
OMIM:210600	CENPE	1062	HP:0001250	Seizures
OMIM:210600	CENPE	1062	HP:0004209	Clinodactyly of the 5th finger
OMIM:210600	CENPE	1062	HP:0006297	Hypoplasia of dental enamel
OMIM:210600	CENPE	1062	HP:0006434	Hypoplasia of proximal radius
OMIM:210600	CENPE	1062	HP:0003083	Dislocated radial head
OMIM:210600	CENPE	1062	HP:0000581	Blepharophimosis
OMIM:210600	CENPE	1062	HP:0000752	Hyperactivity
OMIM:210600	CENPE	1062	HP:0000218	High palate
OMIM:210600	CENPE	1062	HP:0000486	Strabismus
OMIM:210600	CENPE	1062	HP:0000678	Dental crowding
OMIM:210600	CENPE	1062	HP:0000347	Micrognathia
OMIM:210600	CENPE	1062	HP:0002827	Hip dislocation
OMIM:210600	CENPE	1062	HP:0000028	Cryptorchidism
OMIM:210600	CENPE	1062	HP:0001852	Sandal gap
OMIM:210600	CENPE	1062	HP:0000057	Clitoromegaly
OMIM:210600	CENPE	1062	HP:0000377	Abnormality of the pinna
OMIM:210600	CENPE	1062	HP:0001090	Large eyes
OMIM:210600	CENPE	1062	HP:0001302	Pachygyria
OMIM:210600	CENPE	1062	HP:0003508	Proportionate short stature
OMIM:210600	CENPE	1062	HP:0000689	Dental malocclusion
OMIM:210600	CENPE	1062	HP:0002750	Delayed skeletal maturation
OMIM:210600	CENPE	1062	HP:0001592	Selective tooth agenesis
OMIM:210600	CENPE	1062	HP:0000237	Small anterior fontanelle
OMIM:210600	CENPE	1062	HP:0001883	Talipes
OMIM:210600	CENPE	1062	HP:0002650	Scoliosis
OMIM:210600	CENPE	1062	HP:0000252	Microcephaly
OMIM:210600	CENPE	1062	HP:0006143	Abnormal finger flexion creases
OMIM:210600	CENPE	1062	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:210600	CENPE	1062	HP:0010583	Ivory epiphyses
OMIM:210600	CENPE	1062	HP:0000047	Hypospadias
OMIM:210600	CENPE	1062	HP:0006442	Hypoplasia of proximal fibula
OMIM:210600	CENPE	1062	HP:0000444	Convex nasal ridge
OMIM:210600	CENPE	1062	HP:0000954	Single transverse palmar crease
OMIM:210600	CENPE	1062	HP:0001249	Intellectual disability
OMIM:210600	CENPE	1062	HP:0007048	Large basal ganglia
OMIM:210600	CENPE	1062	HP:0000324	Facial asymmetry
OMIM:210600	CENPE	1062	HP:0001876	Pancytopenia
OMIM:210600	CENPE	1062	HP:0001320	Cerebellar vermis hypoplasia
OMIM:210600	CENPJ	55835	HP:0000448	Prominent nose
OMIM:210600	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:210600	CENPJ	55835	HP:0000175	Cleft palate
OMIM:210600	CENPJ	55835	HP:0001763	Pes planus
OMIM:210600	CENPJ	55835	HP:0000494	Downslanted palpebral fissures
OMIM:210600	CENPJ	55835	HP:0000369	Low-set ears
OMIM:210600	CENPJ	55835	HP:0002987	Elbow flexion contracture
OMIM:210600	CENPJ	55835	HP:0000340	Sloping forehead
OMIM:210600	CENPJ	55835	HP:0001511	Intrauterine growth retardation
OMIM:210600	CENPJ	55835	HP:0000878	11 pairs of ribs
OMIM:210600	CENPJ	55835	HP:0001250	Seizures
OMIM:210600	CENPJ	55835	HP:0004209	Clinodactyly of the 5th finger
OMIM:210600	CENPJ	55835	HP:0006297	Hypoplasia of dental enamel
OMIM:210600	CENPJ	55835	HP:0006434	Hypoplasia of proximal radius
OMIM:210600	CENPJ	55835	HP:0003083	Dislocated radial head
OMIM:210600	CENPJ	55835	HP:0000581	Blepharophimosis
OMIM:210600	CENPJ	55835	HP:0000752	Hyperactivity
OMIM:210600	CENPJ	55835	HP:0000218	High palate
OMIM:210600	CENPJ	55835	HP:0000486	Strabismus
OMIM:210600	CENPJ	55835	HP:0000678	Dental crowding
OMIM:210600	CENPJ	55835	HP:0000347	Micrognathia
OMIM:210600	CENPJ	55835	HP:0002827	Hip dislocation
OMIM:210600	CENPJ	55835	HP:0000028	Cryptorchidism
OMIM:210600	CENPJ	55835	HP:0001852	Sandal gap
OMIM:210600	CENPJ	55835	HP:0000057	Clitoromegaly
OMIM:210600	CENPJ	55835	HP:0000377	Abnormality of the pinna
OMIM:210600	CENPJ	55835	HP:0001090	Large eyes
OMIM:210600	CENPJ	55835	HP:0001302	Pachygyria
OMIM:210600	CENPJ	55835	HP:0003508	Proportionate short stature
OMIM:210600	CENPJ	55835	HP:0000689	Dental malocclusion
OMIM:210600	CENPJ	55835	HP:0002750	Delayed skeletal maturation
OMIM:210600	CENPJ	55835	HP:0001592	Selective tooth agenesis
OMIM:210600	CENPJ	55835	HP:0000237	Small anterior fontanelle
OMIM:210600	CENPJ	55835	HP:0001883	Talipes
OMIM:210600	CENPJ	55835	HP:0002650	Scoliosis
OMIM:210600	CENPJ	55835	HP:0000252	Microcephaly
OMIM:210600	CENPJ	55835	HP:0006143	Abnormal finger flexion creases
OMIM:210600	CENPJ	55835	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:210600	CENPJ	55835	HP:0010583	Ivory epiphyses
OMIM:210600	CENPJ	55835	HP:0000047	Hypospadias
OMIM:210600	CENPJ	55835	HP:0006442	Hypoplasia of proximal fibula
OMIM:210600	CENPJ	55835	HP:0000444	Convex nasal ridge
OMIM:210600	CENPJ	55835	HP:0000954	Single transverse palmar crease
OMIM:210600	CENPJ	55835	HP:0001249	Intellectual disability
OMIM:210600	CENPJ	55835	HP:0007048	Large basal ganglia
OMIM:210600	CENPJ	55835	HP:0000324	Facial asymmetry
OMIM:210600	CENPJ	55835	HP:0001876	Pancytopenia
OMIM:210600	CENPJ	55835	HP:0001320	Cerebellar vermis hypoplasia
OMIM:210600	PCNT	5116	HP:0000448	Prominent nose
OMIM:210600	PCNT	5116	HP:0000007	Autosomal recessive inheritance
OMIM:210600	PCNT	5116	HP:0000175	Cleft palate
OMIM:210600	PCNT	5116	HP:0001763	Pes planus
OMIM:210600	PCNT	5116	HP:0000494	Downslanted palpebral fissures
OMIM:210600	PCNT	5116	HP:0000369	Low-set ears
OMIM:210600	PCNT	5116	HP:0002987	Elbow flexion contracture
OMIM:210600	PCNT	5116	HP:0000340	Sloping forehead
OMIM:210600	PCNT	5116	HP:0001511	Intrauterine growth retardation
OMIM:210600	PCNT	5116	HP:0000878	11 pairs of ribs
OMIM:210600	PCNT	5116	HP:0001250	Seizures
OMIM:210600	PCNT	5116	HP:0004209	Clinodactyly of the 5th finger
OMIM:210600	PCNT	5116	HP:0006297	Hypoplasia of dental enamel
OMIM:210600	PCNT	5116	HP:0006434	Hypoplasia of proximal radius
OMIM:210600	PCNT	5116	HP:0003083	Dislocated radial head
OMIM:210600	PCNT	5116	HP:0000581	Blepharophimosis
OMIM:210600	PCNT	5116	HP:0000752	Hyperactivity
OMIM:210600	PCNT	5116	HP:0000218	High palate
OMIM:210600	PCNT	5116	HP:0000486	Strabismus
OMIM:210600	PCNT	5116	HP:0000678	Dental crowding
OMIM:210600	PCNT	5116	HP:0000347	Micrognathia
OMIM:210600	PCNT	5116	HP:0002827	Hip dislocation
OMIM:210600	PCNT	5116	HP:0000028	Cryptorchidism
OMIM:210600	PCNT	5116	HP:0001852	Sandal gap
OMIM:210600	PCNT	5116	HP:0000057	Clitoromegaly
OMIM:210600	PCNT	5116	HP:0000377	Abnormality of the pinna
OMIM:210600	PCNT	5116	HP:0001090	Large eyes
OMIM:210600	PCNT	5116	HP:0001302	Pachygyria
OMIM:210600	PCNT	5116	HP:0003508	Proportionate short stature
OMIM:210600	PCNT	5116	HP:0000689	Dental malocclusion
OMIM:210600	PCNT	5116	HP:0002750	Delayed skeletal maturation
OMIM:210600	PCNT	5116	HP:0001592	Selective tooth agenesis
OMIM:210600	PCNT	5116	HP:0000237	Small anterior fontanelle
OMIM:210600	PCNT	5116	HP:0001883	Talipes
OMIM:210600	PCNT	5116	HP:0002650	Scoliosis
OMIM:210600	PCNT	5116	HP:0000252	Microcephaly
OMIM:210600	PCNT	5116	HP:0006143	Abnormal finger flexion creases
OMIM:210600	PCNT	5116	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:210600	PCNT	5116	HP:0010583	Ivory epiphyses
OMIM:210600	PCNT	5116	HP:0000047	Hypospadias
OMIM:210600	PCNT	5116	HP:0006442	Hypoplasia of proximal fibula
OMIM:210600	PCNT	5116	HP:0000444	Convex nasal ridge
OMIM:210600	PCNT	5116	HP:0000954	Single transverse palmar crease
OMIM:210600	PCNT	5116	HP:0001249	Intellectual disability
OMIM:210600	PCNT	5116	HP:0007048	Large basal ganglia
OMIM:210600	PCNT	5116	HP:0000324	Facial asymmetry
OMIM:210600	PCNT	5116	HP:0001876	Pancytopenia
OMIM:210600	PCNT	5116	HP:0001320	Cerebellar vermis hypoplasia
OMIM:210600	RBBP8	5932	HP:0000448	Prominent nose
OMIM:210600	RBBP8	5932	HP:0000007	Autosomal recessive inheritance
OMIM:210600	RBBP8	5932	HP:0000175	Cleft palate
OMIM:210600	RBBP8	5932	HP:0001763	Pes planus
OMIM:210600	RBBP8	5932	HP:0000494	Downslanted palpebral fissures
OMIM:210600	RBBP8	5932	HP:0000369	Low-set ears
OMIM:210600	RBBP8	5932	HP:0002987	Elbow flexion contracture
OMIM:210600	RBBP8	5932	HP:0000340	Sloping forehead
OMIM:210600	RBBP8	5932	HP:0001511	Intrauterine growth retardation
OMIM:210600	RBBP8	5932	HP:0000878	11 pairs of ribs
OMIM:210600	RBBP8	5932	HP:0001250	Seizures
OMIM:210600	RBBP8	5932	HP:0004209	Clinodactyly of the 5th finger
OMIM:210600	RBBP8	5932	HP:0006297	Hypoplasia of dental enamel
OMIM:210600	RBBP8	5932	HP:0006434	Hypoplasia of proximal radius
OMIM:210600	RBBP8	5932	HP:0003083	Dislocated radial head
OMIM:210600	RBBP8	5932	HP:0000581	Blepharophimosis
OMIM:210600	RBBP8	5932	HP:0000752	Hyperactivity
OMIM:210600	RBBP8	5932	HP:0000218	High palate
OMIM:210600	RBBP8	5932	HP:0000486	Strabismus
OMIM:210600	RBBP8	5932	HP:0000678	Dental crowding
OMIM:210600	RBBP8	5932	HP:0000347	Micrognathia
OMIM:210600	RBBP8	5932	HP:0002827	Hip dislocation
OMIM:210600	RBBP8	5932	HP:0000028	Cryptorchidism
OMIM:210600	RBBP8	5932	HP:0001852	Sandal gap
OMIM:210600	RBBP8	5932	HP:0000057	Clitoromegaly
OMIM:210600	RBBP8	5932	HP:0000377	Abnormality of the pinna
OMIM:210600	RBBP8	5932	HP:0001090	Large eyes
OMIM:210600	RBBP8	5932	HP:0001302	Pachygyria
OMIM:210600	RBBP8	5932	HP:0003508	Proportionate short stature
OMIM:210600	RBBP8	5932	HP:0000689	Dental malocclusion
OMIM:210600	RBBP8	5932	HP:0002750	Delayed skeletal maturation
OMIM:210600	RBBP8	5932	HP:0001592	Selective tooth agenesis
OMIM:210600	RBBP8	5932	HP:0000237	Small anterior fontanelle
OMIM:210600	RBBP8	5932	HP:0001883	Talipes
OMIM:210600	RBBP8	5932	HP:0002650	Scoliosis
OMIM:210600	RBBP8	5932	HP:0000252	Microcephaly
OMIM:210600	RBBP8	5932	HP:0006143	Abnormal finger flexion creases
OMIM:210600	RBBP8	5932	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:210600	RBBP8	5932	HP:0010583	Ivory epiphyses
OMIM:210600	RBBP8	5932	HP:0000047	Hypospadias
OMIM:210600	RBBP8	5932	HP:0006442	Hypoplasia of proximal fibula
OMIM:210600	RBBP8	5932	HP:0000444	Convex nasal ridge
OMIM:210600	RBBP8	5932	HP:0000954	Single transverse palmar crease
OMIM:210600	RBBP8	5932	HP:0001249	Intellectual disability
OMIM:210600	RBBP8	5932	HP:0007048	Large basal ganglia
OMIM:210600	RBBP8	5932	HP:0000324	Facial asymmetry
OMIM:210600	RBBP8	5932	HP:0001876	Pancytopenia
OMIM:210600	RBBP8	5932	HP:0001320	Cerebellar vermis hypoplasia
OMIM:210600	PLK4	10733	HP:0000448	Prominent nose
OMIM:210600	PLK4	10733	HP:0000007	Autosomal recessive inheritance
OMIM:210600	PLK4	10733	HP:0000175	Cleft palate
OMIM:210600	PLK4	10733	HP:0001763	Pes planus
OMIM:210600	PLK4	10733	HP:0000494	Downslanted palpebral fissures
OMIM:210600	PLK4	10733	HP:0000369	Low-set ears
OMIM:210600	PLK4	10733	HP:0002987	Elbow flexion contracture
OMIM:210600	PLK4	10733	HP:0000340	Sloping forehead
OMIM:210600	PLK4	10733	HP:0001511	Intrauterine growth retardation
OMIM:210600	PLK4	10733	HP:0000878	11 pairs of ribs
OMIM:210600	PLK4	10733	HP:0001250	Seizures
OMIM:210600	PLK4	10733	HP:0004209	Clinodactyly of the 5th finger
OMIM:210600	PLK4	10733	HP:0006297	Hypoplasia of dental enamel
OMIM:210600	PLK4	10733	HP:0006434	Hypoplasia of proximal radius
OMIM:210600	PLK4	10733	HP:0003083	Dislocated radial head
OMIM:210600	PLK4	10733	HP:0000581	Blepharophimosis
OMIM:210600	PLK4	10733	HP:0000752	Hyperactivity
OMIM:210600	PLK4	10733	HP:0000218	High palate
OMIM:210600	PLK4	10733	HP:0000486	Strabismus
OMIM:210600	PLK4	10733	HP:0000678	Dental crowding
OMIM:210600	PLK4	10733	HP:0000347	Micrognathia
OMIM:210600	PLK4	10733	HP:0002827	Hip dislocation
OMIM:210600	PLK4	10733	HP:0000028	Cryptorchidism
OMIM:210600	PLK4	10733	HP:0001852	Sandal gap
OMIM:210600	PLK4	10733	HP:0000057	Clitoromegaly
OMIM:210600	PLK4	10733	HP:0000377	Abnormality of the pinna
OMIM:210600	PLK4	10733	HP:0001090	Large eyes
OMIM:210600	PLK4	10733	HP:0001302	Pachygyria
OMIM:210600	PLK4	10733	HP:0003508	Proportionate short stature
OMIM:210600	PLK4	10733	HP:0000689	Dental malocclusion
OMIM:210600	PLK4	10733	HP:0002750	Delayed skeletal maturation
OMIM:210600	PLK4	10733	HP:0001592	Selective tooth agenesis
OMIM:210600	PLK4	10733	HP:0000237	Small anterior fontanelle
OMIM:210600	PLK4	10733	HP:0001883	Talipes
OMIM:210600	PLK4	10733	HP:0002650	Scoliosis
OMIM:210600	PLK4	10733	HP:0000252	Microcephaly
OMIM:210600	PLK4	10733	HP:0006143	Abnormal finger flexion creases
OMIM:210600	PLK4	10733	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:210600	PLK4	10733	HP:0010583	Ivory epiphyses
OMIM:210600	PLK4	10733	HP:0000047	Hypospadias
OMIM:210600	PLK4	10733	HP:0006442	Hypoplasia of proximal fibula
OMIM:210600	PLK4	10733	HP:0000444	Convex nasal ridge
OMIM:210600	PLK4	10733	HP:0000954	Single transverse palmar crease
OMIM:210600	PLK4	10733	HP:0001249	Intellectual disability
OMIM:210600	PLK4	10733	HP:0007048	Large basal ganglia
OMIM:210600	PLK4	10733	HP:0000324	Facial asymmetry
OMIM:210600	PLK4	10733	HP:0001876	Pancytopenia
OMIM:210600	PLK4	10733	HP:0001320	Cerebellar vermis hypoplasia
OMIM:210600	ATRIP	84126	HP:0000448	Prominent nose
OMIM:210600	ATRIP	84126	HP:0000007	Autosomal recessive inheritance
OMIM:210600	ATRIP	84126	HP:0000175	Cleft palate
OMIM:210600	ATRIP	84126	HP:0001763	Pes planus
OMIM:210600	ATRIP	84126	HP:0000494	Downslanted palpebral fissures
OMIM:210600	ATRIP	84126	HP:0000369	Low-set ears
OMIM:210600	ATRIP	84126	HP:0002987	Elbow flexion contracture
OMIM:210600	ATRIP	84126	HP:0000340	Sloping forehead
OMIM:210600	ATRIP	84126	HP:0001511	Intrauterine growth retardation
OMIM:210600	ATRIP	84126	HP:0000878	11 pairs of ribs
OMIM:210600	ATRIP	84126	HP:0001250	Seizures
OMIM:210600	ATRIP	84126	HP:0004209	Clinodactyly of the 5th finger
OMIM:210600	ATRIP	84126	HP:0006297	Hypoplasia of dental enamel
OMIM:210600	ATRIP	84126	HP:0006434	Hypoplasia of proximal radius
OMIM:210600	ATRIP	84126	HP:0003083	Dislocated radial head
OMIM:210600	ATRIP	84126	HP:0000581	Blepharophimosis
OMIM:210600	ATRIP	84126	HP:0000752	Hyperactivity
OMIM:210600	ATRIP	84126	HP:0000218	High palate
OMIM:210600	ATRIP	84126	HP:0000486	Strabismus
OMIM:210600	ATRIP	84126	HP:0000678	Dental crowding
OMIM:210600	ATRIP	84126	HP:0000347	Micrognathia
OMIM:210600	ATRIP	84126	HP:0002827	Hip dislocation
OMIM:210600	ATRIP	84126	HP:0000028	Cryptorchidism
OMIM:210600	ATRIP	84126	HP:0001852	Sandal gap
OMIM:210600	ATRIP	84126	HP:0000057	Clitoromegaly
OMIM:210600	ATRIP	84126	HP:0000377	Abnormality of the pinna
OMIM:210600	ATRIP	84126	HP:0001090	Large eyes
OMIM:210600	ATRIP	84126	HP:0001302	Pachygyria
OMIM:210600	ATRIP	84126	HP:0003508	Proportionate short stature
OMIM:210600	ATRIP	84126	HP:0000689	Dental malocclusion
OMIM:210600	ATRIP	84126	HP:0002750	Delayed skeletal maturation
OMIM:210600	ATRIP	84126	HP:0001592	Selective tooth agenesis
OMIM:210600	ATRIP	84126	HP:0000237	Small anterior fontanelle
OMIM:210600	ATRIP	84126	HP:0001883	Talipes
OMIM:210600	ATRIP	84126	HP:0002650	Scoliosis
OMIM:210600	ATRIP	84126	HP:0000252	Microcephaly
OMIM:210600	ATRIP	84126	HP:0006143	Abnormal finger flexion creases
OMIM:210600	ATRIP	84126	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:210600	ATRIP	84126	HP:0010583	Ivory epiphyses
OMIM:210600	ATRIP	84126	HP:0000047	Hypospadias
OMIM:210600	ATRIP	84126	HP:0006442	Hypoplasia of proximal fibula
OMIM:210600	ATRIP	84126	HP:0000444	Convex nasal ridge
OMIM:210600	ATRIP	84126	HP:0000954	Single transverse palmar crease
OMIM:210600	ATRIP	84126	HP:0001249	Intellectual disability
OMIM:210600	ATRIP	84126	HP:0007048	Large basal ganglia
OMIM:210600	ATRIP	84126	HP:0000324	Facial asymmetry
OMIM:210600	ATRIP	84126	HP:0001876	Pancytopenia
OMIM:210600	ATRIP	84126	HP:0001320	Cerebellar vermis hypoplasia
OMIM:613981	CDSN	1041	HP:0000006	Autosomal dominant inheritance
OMIM:613981	KRT74	121391	HP:0000006	Autosomal dominant inheritance
OMIM:604091	ABCA1	19	HP:0001392	Abnormality of the liver
OMIM:604091	ABCA1	19	HP:0003119	Abnormality of lipid metabolism
OMIM:604091	ABCA1	19	HP:0001744	Splenomegaly
OMIM:604091	ABCA1	19	HP:0003457	EMG abnormality
OMIM:604091	ABCA1	19	HP:0004374	Hemiplegia/hemiparesis
OMIM:604091	ABCA1	19	HP:0001903	Anemia
OMIM:604091	ABCA1	19	HP:0003233	Hypoalphalipoproteinemia
OMIM:604091	ABCA1	19	HP:0000006	Autosomal dominant inheritance
OMIM:604091	ABCA1	19	HP:0002716	Lymphadenopathy
OMIM:604091	APOA1	335	HP:0001392	Abnormality of the liver
OMIM:604091	APOA1	335	HP:0003119	Abnormality of lipid metabolism
OMIM:604091	APOA1	335	HP:0001744	Splenomegaly
OMIM:604091	APOA1	335	HP:0003457	EMG abnormality
OMIM:604091	APOA1	335	HP:0004374	Hemiplegia/hemiparesis
OMIM:604091	APOA1	335	HP:0001903	Anemia
OMIM:604091	APOA1	335	HP:0003233	Hypoalphalipoproteinemia
OMIM:604091	APOA1	335	HP:0000006	Autosomal dominant inheritance
OMIM:604091	APOA1	335	HP:0002716	Lymphadenopathy
OMIM:274600	SLC26A4	5172	HP:0000843	Hyperparathyroidism
OMIM:274600	SLC26A4	5172	HP:0000853	Goiter
OMIM:274600	SLC26A4	5172	HP:0000821	Hypothyroidism
OMIM:274600	SLC26A4	5172	HP:0000112	Nephropathy
OMIM:274600	SLC26A4	5172	HP:0002890	Thyroid carcinoma
OMIM:274600	SLC26A4	5172	HP:0008527	Congenital sensorineural hearing impairment
OMIM:274600	SLC26A4	5172	HP:0001751	Vestibular dysfunction
OMIM:274600	SLC26A4	5172	HP:0008554	Cochlear malformation
OMIM:274600	SLC26A4	5172	HP:0002311	Incoordination
OMIM:274600	SLC26A4	5172	HP:0100031	Neoplasm of the thyroid gland
OMIM:274600	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:274600	SLC26A4	5172	HP:0100543	Cognitive impairment
OMIM:274600	SLC26A4	5172	HP:0002167	Neurological speech impairment
OMIM:274600	SLC26A4	5172	HP:0002777	Tracheal stenosis
OMIM:274600	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:274600	SLC26A4	5172	HP:0002093	Respiratory insufficiency
OMIM:274600	SLC26A4	5172	HP:0002321	Vertigo
OMIM:274600	SLC26A4	5172	HP:0001249	Intellectual disability
OMIM:274600	SLC26A4	5172	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274600	KCNJ10	3766	HP:0000843	Hyperparathyroidism
OMIM:274600	KCNJ10	3766	HP:0000853	Goiter
OMIM:274600	KCNJ10	3766	HP:0000821	Hypothyroidism
OMIM:274600	KCNJ10	3766	HP:0000112	Nephropathy
OMIM:274600	KCNJ10	3766	HP:0002890	Thyroid carcinoma
OMIM:274600	KCNJ10	3766	HP:0008527	Congenital sensorineural hearing impairment
OMIM:274600	KCNJ10	3766	HP:0001751	Vestibular dysfunction
OMIM:274600	KCNJ10	3766	HP:0008554	Cochlear malformation
OMIM:274600	KCNJ10	3766	HP:0002311	Incoordination
OMIM:274600	KCNJ10	3766	HP:0100031	Neoplasm of the thyroid gland
OMIM:274600	KCNJ10	3766	HP:0000007	Autosomal recessive inheritance
OMIM:274600	KCNJ10	3766	HP:0100543	Cognitive impairment
OMIM:274600	KCNJ10	3766	HP:0002167	Neurological speech impairment
OMIM:274600	KCNJ10	3766	HP:0002777	Tracheal stenosis
OMIM:274600	KCNJ10	3766	HP:0000407	Sensorineural hearing impairment
OMIM:274600	KCNJ10	3766	HP:0002093	Respiratory insufficiency
OMIM:274600	KCNJ10	3766	HP:0002321	Vertigo
OMIM:274600	KCNJ10	3766	HP:0001249	Intellectual disability
OMIM:274600	KCNJ10	3766	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274600	FOXI1	2299	HP:0000843	Hyperparathyroidism
OMIM:274600	FOXI1	2299	HP:0000853	Goiter
OMIM:274600	FOXI1	2299	HP:0000821	Hypothyroidism
OMIM:274600	FOXI1	2299	HP:0000112	Nephropathy
OMIM:274600	FOXI1	2299	HP:0002890	Thyroid carcinoma
OMIM:274600	FOXI1	2299	HP:0008527	Congenital sensorineural hearing impairment
OMIM:274600	FOXI1	2299	HP:0001751	Vestibular dysfunction
OMIM:274600	FOXI1	2299	HP:0008554	Cochlear malformation
OMIM:274600	FOXI1	2299	HP:0002311	Incoordination
OMIM:274600	FOXI1	2299	HP:0100031	Neoplasm of the thyroid gland
OMIM:274600	FOXI1	2299	HP:0000007	Autosomal recessive inheritance
OMIM:274600	FOXI1	2299	HP:0100543	Cognitive impairment
OMIM:274600	FOXI1	2299	HP:0002167	Neurological speech impairment
OMIM:274600	FOXI1	2299	HP:0002777	Tracheal stenosis
OMIM:274600	FOXI1	2299	HP:0000407	Sensorineural hearing impairment
OMIM:274600	FOXI1	2299	HP:0002093	Respiratory insufficiency
OMIM:274600	FOXI1	2299	HP:0002321	Vertigo
OMIM:274600	FOXI1	2299	HP:0001249	Intellectual disability
OMIM:274600	FOXI1	2299	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:615574	ASNS	440	HP:0001508	Failure to thrive
OMIM:615574	ASNS	440	HP:0001298	Encephalopathy
OMIM:615574	ASNS	440	HP:0001176	Large hands
OMIM:615574	ASNS	440	HP:0009879	Cortical gyral simplification
OMIM:615574	ASNS	440	HP:0000007	Autosomal recessive inheritance
OMIM:615574	ASNS	440	HP:0012448	Delayed myelination
OMIM:615574	ASNS	440	HP:0001321	Cerebellar hypoplasia
OMIM:615574	ASNS	440	HP:0001250	Seizures
OMIM:615574	ASNS	440	HP:0002521	Hypsarrhythmia
OMIM:615574	ASNS	440	HP:0000340	Sloping forehead
OMIM:615574	ASNS	440	HP:0002093	Respiratory insufficiency
OMIM:615574	ASNS	440	HP:0008936	Muscular hypotonia of the trunk
OMIM:615574	ASNS	440	HP:0000400	Macrotia
OMIM:615574	ASNS	440	HP:0002119	Ventriculomegaly
OMIM:615574	ASNS	440	HP:0000252	Microcephaly
OMIM:615574	ASNS	440	HP:0012110	Hypoplasia of the pons
OMIM:615574	ASNS	440	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615574	ASNS	440	HP:0100704	Cortical visual impairment
OMIM:615574	ASNS	440	HP:0000347	Micrognathia
OMIM:615574	ASNS	440	HP:0011968	Feeding difficulties
OMIM:615574	ASNS	440	HP:0002510	Spastic tetraplegia
OMIM:615574	ASNS	440	HP:0002267	Exaggerated startle response
OMIM:615574	ASNS	440	HP:0001833	Long foot
OMIM:615574	ASNS	440	HP:0002539	Cortical dysplasia
OMIM:615574	ASNS	440	HP:0001263	Global developmental delay
OMIM:615574	ASNS	440	HP:0001347	Hyperreflexia
OMIM:615574	ASNS	440	HP:0003676	Progressive
OMIM:601626	GATA2	2624	HP:0000006	Autosomal dominant inheritance
OMIM:601626	CBFB	865	HP:0000006	Autosomal dominant inheritance
OMIM:601626	MLF1	4291	HP:0000006	Autosomal dominant inheritance
OMIM:601626	NSD1	64324	HP:0000006	Autosomal dominant inheritance
OMIM:601626	NPM1	4869	HP:0000006	Autosomal dominant inheritance
OMIM:601626	JAK2	3717	HP:0000006	Autosomal dominant inheritance
OMIM:601626	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:601626	KIT	3815	HP:0000006	Autosomal dominant inheritance
OMIM:601626	ETV6	2120	HP:0000006	Autosomal dominant inheritance
OMIM:601626	PICALM	8301	HP:0000006	Autosomal dominant inheritance
OMIM:601626	FLT3	2322	HP:0000006	Autosomal dominant inheritance
OMIM:601626	NUP214	8021	HP:0000006	Autosomal dominant inheritance
OMIM:601626	SH3GL1	6455	HP:0000006	Autosomal dominant inheritance
OMIM:601626	WHSC1L1	54904	HP:0000006	Autosomal dominant inheritance
OMIM:601626	LPP	4026	HP:0000006	Autosomal dominant inheritance
OMIM:601626	CEBPA	1050	HP:0000006	Autosomal dominant inheritance
OMIM:601626	MLLT10	8028	HP:0000006	Autosomal dominant inheritance
OMIM:601626	RUNX1	861	HP:0000006	Autosomal dominant inheritance
OMIM:278150	RPL21	6144	HP:0002215	Sparse axillary hair
OMIM:278150	RPL21	6144	HP:0002209	Sparse scalp hair
OMIM:278150	RPL21	6144	HP:0002224	Woolly hair
OMIM:278150	RPL21	6144	HP:0000653	Sparse eyelashes
OMIM:278150	RPL21	6144	HP:0002208	Coarse hair
OMIM:278150	RPL21	6144	HP:0000535	Sparse eyebrow
OMIM:278150	RPL21	6144	HP:0000006	Autosomal dominant inheritance
OMIM:278150	RPL21	6144	HP:0000007	Autosomal recessive inheritance
OMIM:278150	LPAR6	10161	HP:0002215	Sparse axillary hair
OMIM:278150	LPAR6	10161	HP:0002209	Sparse scalp hair
OMIM:278150	LPAR6	10161	HP:0002224	Woolly hair
OMIM:278150	LPAR6	10161	HP:0000653	Sparse eyelashes
OMIM:278150	LPAR6	10161	HP:0002208	Coarse hair
OMIM:278150	LPAR6	10161	HP:0000535	Sparse eyebrow
OMIM:278150	LPAR6	10161	HP:0000006	Autosomal dominant inheritance
OMIM:278150	LPAR6	10161	HP:0000007	Autosomal recessive inheritance
OMIM:278150	DSG4	147409	HP:0002215	Sparse axillary hair
OMIM:278150	DSG4	147409	HP:0002209	Sparse scalp hair
OMIM:278150	DSG4	147409	HP:0002224	Woolly hair
OMIM:278150	DSG4	147409	HP:0000653	Sparse eyelashes
OMIM:278150	DSG4	147409	HP:0002208	Coarse hair
OMIM:278150	DSG4	147409	HP:0000535	Sparse eyebrow
OMIM:278150	DSG4	147409	HP:0000006	Autosomal dominant inheritance
OMIM:278150	DSG4	147409	HP:0000007	Autosomal recessive inheritance
OMIM:278150	KRT71	112802	HP:0002215	Sparse axillary hair
OMIM:278150	KRT71	112802	HP:0002209	Sparse scalp hair
OMIM:278150	KRT71	112802	HP:0002224	Woolly hair
OMIM:278150	KRT71	112802	HP:0000653	Sparse eyelashes
OMIM:278150	KRT71	112802	HP:0002208	Coarse hair
OMIM:278150	KRT71	112802	HP:0000535	Sparse eyebrow
OMIM:278150	KRT71	112802	HP:0000006	Autosomal dominant inheritance
OMIM:278150	KRT71	112802	HP:0000007	Autosomal recessive inheritance
OMIM:278150	APCDD1	147495	HP:0002215	Sparse axillary hair
OMIM:278150	APCDD1	147495	HP:0002209	Sparse scalp hair
OMIM:278150	APCDD1	147495	HP:0002224	Woolly hair
OMIM:278150	APCDD1	147495	HP:0000653	Sparse eyelashes
OMIM:278150	APCDD1	147495	HP:0002208	Coarse hair
OMIM:278150	APCDD1	147495	HP:0000535	Sparse eyebrow
OMIM:278150	APCDD1	147495	HP:0000006	Autosomal dominant inheritance
OMIM:278150	APCDD1	147495	HP:0000007	Autosomal recessive inheritance
OMIM:278150	SNRPE	6635	HP:0002215	Sparse axillary hair
OMIM:278150	SNRPE	6635	HP:0002209	Sparse scalp hair
OMIM:278150	SNRPE	6635	HP:0002224	Woolly hair
OMIM:278150	SNRPE	6635	HP:0000653	Sparse eyelashes
OMIM:278150	SNRPE	6635	HP:0002208	Coarse hair
OMIM:278150	SNRPE	6635	HP:0000535	Sparse eyebrow
OMIM:278150	SNRPE	6635	HP:0000006	Autosomal dominant inheritance
OMIM:278150	SNRPE	6635	HP:0000007	Autosomal recessive inheritance
OMIM:278150	LIPH	200879	HP:0002215	Sparse axillary hair
OMIM:278150	LIPH	200879	HP:0002209	Sparse scalp hair
OMIM:278150	LIPH	200879	HP:0002224	Woolly hair
OMIM:278150	LIPH	200879	HP:0000653	Sparse eyelashes
OMIM:278150	LIPH	200879	HP:0002208	Coarse hair
OMIM:278150	LIPH	200879	HP:0000535	Sparse eyebrow
OMIM:278150	LIPH	200879	HP:0000006	Autosomal dominant inheritance
OMIM:278150	LIPH	200879	HP:0000007	Autosomal recessive inheritance
OMIM:278150	KRT74	121391	HP:0002215	Sparse axillary hair
OMIM:278150	KRT74	121391	HP:0002209	Sparse scalp hair
OMIM:278150	KRT74	121391	HP:0002224	Woolly hair
OMIM:278150	KRT74	121391	HP:0000653	Sparse eyelashes
OMIM:278150	KRT74	121391	HP:0002208	Coarse hair
OMIM:278150	KRT74	121391	HP:0000535	Sparse eyebrow
OMIM:278150	KRT74	121391	HP:0000006	Autosomal dominant inheritance
OMIM:278150	KRT74	121391	HP:0000007	Autosomal recessive inheritance
OMIM:616369	CENPF	1063	HP:0000431	Wide nasal bridge
OMIM:616369	CENPF	1063	HP:0000238	Hydrocephalus
OMIM:616369	CENPF	1063	HP:0001274	Agenesis of corpus callosum
OMIM:616369	CENPF	1063	HP:0002247	Duodenal atresia
OMIM:616369	CENPF	1063	HP:0001321	Cerebellar hypoplasia
OMIM:616369	CENPF	1063	HP:0000252	Microcephaly
OMIM:616369	CENPF	1063	HP:0000347	Micrognathia
OMIM:616369	CENPF	1063	HP:0000369	Low-set ears
OMIM:616369	CENPF	1063	HP:0000426	Prominent nasal bridge
OMIM:616369	CENPF	1063	HP:0000316	Hypertelorism
OMIM:616369	CENPF	1063	HP:0000175	Cleft palate
OMIM:616295	CAST	831	HP:0000982	Palmoplantar keratoderma
OMIM:136520	PAX6	5080	HP:0000505	Visual impairment
OMIM:136520	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:136520	PAX6	5080	HP:0007440	Generalized hyperpigmentation
OMIM:136520	PAX6	5080	HP:0000639	Nystagmus
OMIM:136520	PAX6	5080	HP:0000518	Cataract
OMIM:136520	PAX6	5080	HP:0000648	Optic atrophy
OMIM:136520	PAX6	5080	HP:0000486	Strabismus
OMIM:610883	RAI1	10743	HP:0001626	Abnormality of the cardiovascular system
OMIM:610883	RAI1	10743	HP:0000337	Broad forehead
OMIM:610883	RAI1	10743	HP:0001250	Seizures
OMIM:610883	RAI1	10743	HP:0002167	Neurological speech impairment
OMIM:610883	RAI1	10743	HP:0000252	Microcephaly
OMIM:610883	RAI1	10743	HP:0000540	Hypermetropia
OMIM:610883	RAI1	10743	HP:0002353	EEG abnormality
OMIM:610883	RAI1	10743	HP:0007018	Attention deficit hyperactivity disorder
OMIM:610883	RAI1	10743	HP:0000752	Hyperactivity
OMIM:610883	RAI1	10743	HP:0000347	Micrognathia
OMIM:610883	RAI1	10743	HP:0002357	Dysphasia
OMIM:610883	RAI1	10743	HP:0000154	Wide mouth
OMIM:610883	RAI1	10743	HP:0000494	Downslanted palpebral fissures
OMIM:610883	RAI1	10743	HP:0000717	Autism
OMIM:610883	RAI1	10743	HP:0000325	Triangular face
OMIM:610883	RAI1	10743	HP:0000600	Abnormality of the pharynx
OMIM:610883	RAI1	10743	HP:0000319	Smooth philtrum
OMIM:610883	RAI1	10743	HP:0000821	Hypothyroidism
OMIM:610883	RAI1	10743	HP:0001655	Patent foramen ovale
OMIM:610883	RAI1	10743	HP:0012210	Abnormal renal morphology
OMIM:610883	RAI1	10743	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610883	RAI1	10743	HP:0001508	Failure to thrive
OMIM:610883	RAI1	10743	HP:0008872	Feeding difficulties in infancy
OMIM:610883	RAI1	10743	HP:0003745	Sporadic
OMIM:610883	RAI1	10743	HP:0001263	Global developmental delay
OMIM:610883	RAI1	10743	HP:0012448	Delayed myelination
OMIM:610883	RAI1	10743	HP:0001518	Small for gestational age
OMIM:610883	RAI1	10743	HP:0100543	Cognitive impairment
OMIM:610883	RAI1	10743	HP:0000303	Mandibular prognathia
OMIM:610883	RAI1	10743	HP:0004322	Short stature
OMIM:610883	RAI1	10743	HP:0002463	Language impairment
OMIM:610883	RAI1	10743	HP:0002474	Expressive language delay
OMIM:610883	RAI1	10743	HP:0010535	Sleep apnea
OMIM:610883	RAI1	10743	HP:0000678	Dental crowding
OMIM:610883	RAI1	10743	HP:0000689	Dental malocclusion
OMIM:610883	RAI1	10743	HP:0002650	Scoliosis
OMIM:610883	RAI1	10743	HP:0000733	Stereotypic behavior
OMIM:610883	RAI1	10743	HP:0002916	Abnormality of chromosome segregation
OMIM:610883	RAI1	10743	HP:0000006	Autosomal dominant inheritance
OMIM:610883	RAI1	10743	HP:0000316	Hypertelorism
OMIM:610883	RAI1	10743	HP:0000365	Hearing impairment
OMIM:610883	RAI1	10743	HP:0002020	Gastroesophageal reflux
OMIM:610883	RAI1	10743	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610883	RAI1	10743	HP:0000218	High palate
OMIM:610883	RAI1	10743	HP:0001252	Muscular hypotonia
OMIM:610883	RAI1	10743	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:610883	RAI1	10743	HP:0006482	Abnormality of dental morphology
OMIM:610883	RAI1	10743	HP:0002104	Apnea
OMIM:610883	RAI1	10743	HP:0003146	Hypocholesterolemia
OMIM:610883	RAI1	10743	HP:0001256	Intellectual disability, mild
OMIM:610883	RAI1	10743	HP:0003812	Phenotypic variability
OMIM:610883	RAI1	10743	HP:0000243	Trigonocephaly
OMIM:610883	RAI1	10743	HP:0001290	Generalized hypotonia
OMIM:118600	ANKH	56172	HP:0000006	Autosomal dominant inheritance
OMIM:118600	ANKH	56172	HP:0002758	Osteoarthritis
OMIM:118600	ANKH	56172	HP:0003581	Adult onset
ORPHANET:1848	ITGA8	8516	HP:0002575	Tracheoesophageal fistula
ORPHANET:1848	ITGA8	8516	HP:0100335	Non-midline cleft lip
ORPHANET:1848	ITGA8	8516	HP:0000286	Epicanthus
ORPHANET:1848	ITGA8	8516	HP:0002242	Abnormality of the intestine
ORPHANET:1848	ITGA8	8516	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:1848	ITGA8	8516	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:1848	ITGA8	8516	HP:0000175	Cleft palate
ORPHANET:1848	ITGA8	8516	HP:0000347	Micrognathia
ORPHANET:1848	ITGA8	8516	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1848	ITGA8	8516	HP:0001562	Oligohydramnios
ORPHANET:1848	ITGA8	8516	HP:0000316	Hypertelorism
ORPHANET:1848	ITGA8	8516	HP:0000366	Abnormality of the nose
ORPHANET:1848	ITGA8	8516	HP:0010497	Sirenomelia
ORPHANET:1848	ITGA8	8516	HP:0100589	Urogenital fistula
ORPHANET:1848	ITGA8	8516	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1848	ITGA8	8516	HP:0005107	Abnormality of the sacrum
ORPHANET:1848	FGF20	26281	HP:0002575	Tracheoesophageal fistula
ORPHANET:1848	FGF20	26281	HP:0100335	Non-midline cleft lip
ORPHANET:1848	FGF20	26281	HP:0000286	Epicanthus
ORPHANET:1848	FGF20	26281	HP:0002242	Abnormality of the intestine
ORPHANET:1848	FGF20	26281	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:1848	FGF20	26281	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:1848	FGF20	26281	HP:0000175	Cleft palate
ORPHANET:1848	FGF20	26281	HP:0000347	Micrognathia
ORPHANET:1848	FGF20	26281	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1848	FGF20	26281	HP:0001562	Oligohydramnios
ORPHANET:1848	FGF20	26281	HP:0000316	Hypertelorism
ORPHANET:1848	FGF20	26281	HP:0000366	Abnormality of the nose
ORPHANET:1848	FGF20	26281	HP:0010497	Sirenomelia
ORPHANET:1848	FGF20	26281	HP:0100589	Urogenital fistula
ORPHANET:1848	FGF20	26281	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1848	FGF20	26281	HP:0005107	Abnormality of the sacrum
ORPHANET:1848	RET	5979	HP:0002575	Tracheoesophageal fistula
ORPHANET:1848	RET	5979	HP:0100335	Non-midline cleft lip
ORPHANET:1848	RET	5979	HP:0000286	Epicanthus
ORPHANET:1848	RET	5979	HP:0002242	Abnormality of the intestine
ORPHANET:1848	RET	5979	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:1848	RET	5979	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:1848	RET	5979	HP:0000175	Cleft palate
ORPHANET:1848	RET	5979	HP:0000347	Micrognathia
ORPHANET:1848	RET	5979	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1848	RET	5979	HP:0001562	Oligohydramnios
ORPHANET:1848	RET	5979	HP:0000316	Hypertelorism
ORPHANET:1848	RET	5979	HP:0000366	Abnormality of the nose
ORPHANET:1848	RET	5979	HP:0010497	Sirenomelia
ORPHANET:1848	RET	5979	HP:0100589	Urogenital fistula
ORPHANET:1848	RET	5979	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1848	RET	5979	HP:0005107	Abnormality of the sacrum
OMIM:204100	AIPL1	23746	HP:0001099	Fundus atrophy
OMIM:204100	AIPL1	23746	HP:0000563	Keratoconus
OMIM:204100	AIPL1	23746	HP:0000613	Photophobia
OMIM:204100	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:204100	AIPL1	23746	HP:0000580	Pigmentary retinopathy
OMIM:204100	AIPL1	23746	HP:0000618	Blindness
OMIM:204100	AIPL1	23746	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:204100	AIPL1	23746	HP:0000518	Cataract
OMIM:204100	AIPL1	23746	HP:0001249	Intellectual disability
OMIM:204100	AIPL1	23746	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	NMNAT1	64802	HP:0001099	Fundus atrophy
OMIM:204100	NMNAT1	64802	HP:0000563	Keratoconus
OMIM:204100	NMNAT1	64802	HP:0000613	Photophobia
OMIM:204100	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:204100	NMNAT1	64802	HP:0000580	Pigmentary retinopathy
OMIM:204100	NMNAT1	64802	HP:0000618	Blindness
OMIM:204100	NMNAT1	64802	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	NMNAT1	64802	HP:0007663	Reduced visual acuity
OMIM:204100	NMNAT1	64802	HP:0000518	Cataract
OMIM:204100	NMNAT1	64802	HP:0001249	Intellectual disability
OMIM:204100	NMNAT1	64802	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	SPATA7	55812	HP:0001099	Fundus atrophy
OMIM:204100	SPATA7	55812	HP:0000563	Keratoconus
OMIM:204100	SPATA7	55812	HP:0000613	Photophobia
OMIM:204100	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:204100	SPATA7	55812	HP:0000580	Pigmentary retinopathy
OMIM:204100	SPATA7	55812	HP:0000618	Blindness
OMIM:204100	SPATA7	55812	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	SPATA7	55812	HP:0007663	Reduced visual acuity
OMIM:204100	SPATA7	55812	HP:0000518	Cataract
OMIM:204100	SPATA7	55812	HP:0001249	Intellectual disability
OMIM:204100	SPATA7	55812	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	RDH12	145226	HP:0001099	Fundus atrophy
OMIM:204100	RDH12	145226	HP:0000563	Keratoconus
OMIM:204100	RDH12	145226	HP:0000613	Photophobia
OMIM:204100	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:204100	RDH12	145226	HP:0000580	Pigmentary retinopathy
OMIM:204100	RDH12	145226	HP:0000618	Blindness
OMIM:204100	RDH12	145226	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	RDH12	145226	HP:0007663	Reduced visual acuity
OMIM:204100	RDH12	145226	HP:0000518	Cataract
OMIM:204100	RDH12	145226	HP:0001249	Intellectual disability
OMIM:204100	RDH12	145226	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	RPGRIP1	57096	HP:0001099	Fundus atrophy
OMIM:204100	RPGRIP1	57096	HP:0000563	Keratoconus
OMIM:204100	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:204100	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:204100	RPGRIP1	57096	HP:0000580	Pigmentary retinopathy
OMIM:204100	RPGRIP1	57096	HP:0000618	Blindness
OMIM:204100	RPGRIP1	57096	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:204100	RPGRIP1	57096	HP:0000518	Cataract
OMIM:204100	RPGRIP1	57096	HP:0001249	Intellectual disability
OMIM:204100	RPGRIP1	57096	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	RPE65	6121	HP:0001099	Fundus atrophy
OMIM:204100	RPE65	6121	HP:0000563	Keratoconus
OMIM:204100	RPE65	6121	HP:0000613	Photophobia
OMIM:204100	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:204100	RPE65	6121	HP:0000580	Pigmentary retinopathy
OMIM:204100	RPE65	6121	HP:0000618	Blindness
OMIM:204100	RPE65	6121	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	RPE65	6121	HP:0007663	Reduced visual acuity
OMIM:204100	RPE65	6121	HP:0000518	Cataract
OMIM:204100	RPE65	6121	HP:0001249	Intellectual disability
OMIM:204100	RPE65	6121	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	LCA5	167691	HP:0001099	Fundus atrophy
OMIM:204100	LCA5	167691	HP:0000563	Keratoconus
OMIM:204100	LCA5	167691	HP:0000613	Photophobia
OMIM:204100	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:204100	LCA5	167691	HP:0000580	Pigmentary retinopathy
OMIM:204100	LCA5	167691	HP:0000618	Blindness
OMIM:204100	LCA5	167691	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	LCA5	167691	HP:0007663	Reduced visual acuity
OMIM:204100	LCA5	167691	HP:0000518	Cataract
OMIM:204100	LCA5	167691	HP:0001249	Intellectual disability
OMIM:204100	LCA5	167691	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	LRAT	9227	HP:0001099	Fundus atrophy
OMIM:204100	LRAT	9227	HP:0000563	Keratoconus
OMIM:204100	LRAT	9227	HP:0000613	Photophobia
OMIM:204100	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:204100	LRAT	9227	HP:0000580	Pigmentary retinopathy
OMIM:204100	LRAT	9227	HP:0000618	Blindness
OMIM:204100	LRAT	9227	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:204100	LRAT	9227	HP:0000518	Cataract
OMIM:204100	LRAT	9227	HP:0001249	Intellectual disability
OMIM:204100	LRAT	9227	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	IFT140	9742	HP:0001099	Fundus atrophy
OMIM:204100	IFT140	9742	HP:0000563	Keratoconus
OMIM:204100	IFT140	9742	HP:0000613	Photophobia
OMIM:204100	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:204100	IFT140	9742	HP:0000580	Pigmentary retinopathy
OMIM:204100	IFT140	9742	HP:0000618	Blindness
OMIM:204100	IFT140	9742	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	IFT140	9742	HP:0007663	Reduced visual acuity
OMIM:204100	IFT140	9742	HP:0000518	Cataract
OMIM:204100	IFT140	9742	HP:0001249	Intellectual disability
OMIM:204100	IFT140	9742	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	TULP1	7287	HP:0001099	Fundus atrophy
OMIM:204100	TULP1	7287	HP:0000563	Keratoconus
OMIM:204100	TULP1	7287	HP:0000613	Photophobia
OMIM:204100	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:204100	TULP1	7287	HP:0000580	Pigmentary retinopathy
OMIM:204100	TULP1	7287	HP:0000618	Blindness
OMIM:204100	TULP1	7287	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	TULP1	7287	HP:0007663	Reduced visual acuity
OMIM:204100	TULP1	7287	HP:0000518	Cataract
OMIM:204100	TULP1	7287	HP:0001249	Intellectual disability
OMIM:204100	TULP1	7287	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	GUCY2D	3000	HP:0001099	Fundus atrophy
OMIM:204100	GUCY2D	3000	HP:0000563	Keratoconus
OMIM:204100	GUCY2D	3000	HP:0000613	Photophobia
OMIM:204100	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:204100	GUCY2D	3000	HP:0000580	Pigmentary retinopathy
OMIM:204100	GUCY2D	3000	HP:0000618	Blindness
OMIM:204100	GUCY2D	3000	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:204100	GUCY2D	3000	HP:0000518	Cataract
OMIM:204100	GUCY2D	3000	HP:0001249	Intellectual disability
OMIM:204100	GUCY2D	3000	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	CEP290	80184	HP:0001099	Fundus atrophy
OMIM:204100	CEP290	80184	HP:0000563	Keratoconus
OMIM:204100	CEP290	80184	HP:0000613	Photophobia
OMIM:204100	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:204100	CEP290	80184	HP:0000580	Pigmentary retinopathy
OMIM:204100	CEP290	80184	HP:0000618	Blindness
OMIM:204100	CEP290	80184	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	CEP290	80184	HP:0007663	Reduced visual acuity
OMIM:204100	CEP290	80184	HP:0000518	Cataract
OMIM:204100	CEP290	80184	HP:0001249	Intellectual disability
OMIM:204100	CEP290	80184	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	IQCB1	9657	HP:0001099	Fundus atrophy
OMIM:204100	IQCB1	9657	HP:0000563	Keratoconus
OMIM:204100	IQCB1	9657	HP:0000613	Photophobia
OMIM:204100	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:204100	IQCB1	9657	HP:0000580	Pigmentary retinopathy
OMIM:204100	IQCB1	9657	HP:0000618	Blindness
OMIM:204100	IQCB1	9657	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	IQCB1	9657	HP:0007663	Reduced visual acuity
OMIM:204100	IQCB1	9657	HP:0000518	Cataract
OMIM:204100	IQCB1	9657	HP:0001249	Intellectual disability
OMIM:204100	IQCB1	9657	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	KCNJ13	3769	HP:0001099	Fundus atrophy
OMIM:204100	KCNJ13	3769	HP:0000563	Keratoconus
OMIM:204100	KCNJ13	3769	HP:0000613	Photophobia
OMIM:204100	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:204100	KCNJ13	3769	HP:0000580	Pigmentary retinopathy
OMIM:204100	KCNJ13	3769	HP:0000618	Blindness
OMIM:204100	KCNJ13	3769	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	KCNJ13	3769	HP:0007663	Reduced visual acuity
OMIM:204100	KCNJ13	3769	HP:0000518	Cataract
OMIM:204100	KCNJ13	3769	HP:0001249	Intellectual disability
OMIM:204100	KCNJ13	3769	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	CRB1	23418	HP:0001099	Fundus atrophy
OMIM:204100	CRB1	23418	HP:0000563	Keratoconus
OMIM:204100	CRB1	23418	HP:0000613	Photophobia
OMIM:204100	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:204100	CRB1	23418	HP:0000580	Pigmentary retinopathy
OMIM:204100	CRB1	23418	HP:0000618	Blindness
OMIM:204100	CRB1	23418	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	CRB1	23418	HP:0007663	Reduced visual acuity
OMIM:204100	CRB1	23418	HP:0000518	Cataract
OMIM:204100	CRB1	23418	HP:0001249	Intellectual disability
OMIM:204100	CRB1	23418	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	GDF6	392255	HP:0001099	Fundus atrophy
OMIM:204100	GDF6	392255	HP:0000563	Keratoconus
OMIM:204100	GDF6	392255	HP:0000613	Photophobia
OMIM:204100	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:204100	GDF6	392255	HP:0000580	Pigmentary retinopathy
OMIM:204100	GDF6	392255	HP:0000618	Blindness
OMIM:204100	GDF6	392255	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	GDF6	392255	HP:0007663	Reduced visual acuity
OMIM:204100	GDF6	392255	HP:0000518	Cataract
OMIM:204100	GDF6	392255	HP:0001249	Intellectual disability
OMIM:204100	GDF6	392255	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	RD3	343035	HP:0001099	Fundus atrophy
OMIM:204100	RD3	343035	HP:0000563	Keratoconus
OMIM:204100	RD3	343035	HP:0000613	Photophobia
OMIM:204100	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:204100	RD3	343035	HP:0000580	Pigmentary retinopathy
OMIM:204100	RD3	343035	HP:0000618	Blindness
OMIM:204100	RD3	343035	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	RD3	343035	HP:0007663	Reduced visual acuity
OMIM:204100	RD3	343035	HP:0000518	Cataract
OMIM:204100	RD3	343035	HP:0001249	Intellectual disability
OMIM:204100	RD3	343035	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	CRX	1406	HP:0001099	Fundus atrophy
OMIM:204100	CRX	1406	HP:0000563	Keratoconus
OMIM:204100	CRX	1406	HP:0000613	Photophobia
OMIM:204100	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:204100	CRX	1406	HP:0000580	Pigmentary retinopathy
OMIM:204100	CRX	1406	HP:0000618	Blindness
OMIM:204100	CRX	1406	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:204100	CRX	1406	HP:0000518	Cataract
OMIM:204100	CRX	1406	HP:0001249	Intellectual disability
OMIM:204100	CRX	1406	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204100	IMPDH1	3614	HP:0001099	Fundus atrophy
OMIM:204100	IMPDH1	3614	HP:0000563	Keratoconus
OMIM:204100	IMPDH1	3614	HP:0000613	Photophobia
OMIM:204100	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:204100	IMPDH1	3614	HP:0000580	Pigmentary retinopathy
OMIM:204100	IMPDH1	3614	HP:0000618	Blindness
OMIM:204100	IMPDH1	3614	HP:0001320	Cerebellar vermis hypoplasia
OMIM:204100	IMPDH1	3614	HP:0007663	Reduced visual acuity
OMIM:204100	IMPDH1	3614	HP:0000518	Cataract
OMIM:204100	IMPDH1	3614	HP:0001249	Intellectual disability
OMIM:204100	IMPDH1	3614	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:615859	DOCK7	85440	HP:0000294	Low anterior hairline
OMIM:615859	DOCK7	85440	HP:0000455	Broad nasal tip
OMIM:615859	DOCK7	85440	HP:0000574	Thick eyebrow
OMIM:615859	DOCK7	85440	HP:0012471	Thick vermilion border
OMIM:615859	DOCK7	85440	HP:0000341	Narrow forehead
OMIM:615859	DOCK7	85440	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615859	DOCK7	85440	HP:0100704	Cortical visual impairment
OMIM:615859	DOCK7	85440	HP:0001263	Global developmental delay
OMIM:615859	DOCK7	85440	HP:0200134	Epileptic encephalopathy
OMIM:615859	DOCK7	85440	HP:0012110	Hypoplasia of the pons
OMIM:615859	DOCK7	85440	HP:0000322	Short philtrum
OMIM:615859	DOCK7	85440	HP:0002521	Hypsarrhythmia
OMIM:615859	DOCK7	85440	HP:0000506	Telecanthus
OMIM:615859	DOCK7	85440	HP:0000629	Periorbital fullness
OMIM:615859	DOCK7	85440	HP:0000377	Abnormality of the pinna
OMIM:155240	NTRK1	4914	HP:0000006	Autosomal dominant inheritance
OMIM:155240	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:609285	TPM2	7169	HP:0003690	Limb muscle weakness
OMIM:609285	TPM2	7169	HP:0000006	Autosomal dominant inheritance
OMIM:609285	TPM2	7169	HP:0001265	Hyporeflexia
OMIM:609285	TPM2	7169	HP:0002751	Kyphoscoliosis
OMIM:609285	TPM2	7169	HP:0000218	High palate
OMIM:609285	TPM2	7169	HP:0002515	Waddling gait
OMIM:609285	TPM2	7169	HP:0001371	Flexion contracture
OMIM:609285	TPM2	7169	HP:0003202	Skeletal muscle atrophy
OMIM:609285	TPM2	7169	HP:0001270	Motor delay
OMIM:609285	TPM2	7169	HP:0003391	Gowers sign
OMIM:609285	TPM2	7169	HP:0001252	Muscular hypotonia
OMIM:609285	TPM2	7169	HP:0008872	Feeding difficulties in infancy
OMIM:609285	TPM2	7169	HP:0003828	Variable expressivity
OMIM:609285	TPM2	7169	HP:0003691	Scapular winging
OMIM:609285	TPM2	7169	HP:0000467	Neck muscle weakness
OMIM:609285	TPM2	7169	HP:0002355	Difficulty walking
OMIM:609285	TPM3	7170	HP:0003690	Limb muscle weakness
OMIM:609285	TPM3	7170	HP:0000006	Autosomal dominant inheritance
OMIM:609285	TPM3	7170	HP:0001265	Hyporeflexia
OMIM:609285	TPM3	7170	HP:0002751	Kyphoscoliosis
OMIM:609285	TPM3	7170	HP:0000218	High palate
OMIM:609285	TPM3	7170	HP:0002515	Waddling gait
OMIM:609285	TPM3	7170	HP:0001371	Flexion contracture
OMIM:609285	TPM3	7170	HP:0003202	Skeletal muscle atrophy
OMIM:609285	TPM3	7170	HP:0001270	Motor delay
OMIM:609285	TPM3	7170	HP:0003391	Gowers sign
OMIM:609285	TPM3	7170	HP:0001252	Muscular hypotonia
OMIM:609285	TPM3	7170	HP:0008872	Feeding difficulties in infancy
OMIM:609285	TPM3	7170	HP:0003828	Variable expressivity
OMIM:609285	TPM3	7170	HP:0003691	Scapular winging
OMIM:609285	TPM3	7170	HP:0000467	Neck muscle weakness
OMIM:609285	TPM3	7170	HP:0002355	Difficulty walking
OMIM:181030	PLAG1	5324	HP:0000006	Autosomal dominant inheritance
OMIM:613310	TSPAN12	23554	HP:0000505	Visual impairment
OMIM:613310	TSPAN12	23554	HP:0007663	Reduced visual acuity
OMIM:613310	TSPAN12	23554	HP:0000006	Autosomal dominant inheritance
OMIM:613310	TSPAN12	23554	HP:0001146	Pigmentary retinal degeneration
OMIM:613310	FZD4	8322	HP:0000505	Visual impairment
OMIM:613310	FZD4	8322	HP:0007663	Reduced visual acuity
OMIM:613310	FZD4	8322	HP:0000006	Autosomal dominant inheritance
OMIM:613310	FZD4	8322	HP:0001146	Pigmentary retinal degeneration
OMIM:613310	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613310	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:613310	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:613310	ZNF408	79797	HP:0001146	Pigmentary retinal degeneration
OMIM:613310	NDP	4693	HP:0000505	Visual impairment
OMIM:613310	NDP	4693	HP:0007663	Reduced visual acuity
OMIM:613310	NDP	4693	HP:0000006	Autosomal dominant inheritance
OMIM:613310	NDP	4693	HP:0001146	Pigmentary retinal degeneration
OMIM:613310	LRP5	4041	HP:0000505	Visual impairment
OMIM:613310	LRP5	4041	HP:0007663	Reduced visual acuity
OMIM:613310	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:613310	LRP5	4041	HP:0001146	Pigmentary retinal degeneration
OMIM:105550	CHCHD10	400916	HP:0000716	Depression
OMIM:105550	CHCHD10	400916	HP:0002366	Abnormal lower motor neuron morphology
OMIM:105550	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
OMIM:105550	CHCHD10	400916	HP:0003678	Rapidly progressive
OMIM:105550	CHCHD10	400916	HP:0002059	Cerebral atrophy
OMIM:105550	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:105550	CHCHD10	400916	HP:0001300	Parkinsonism
OMIM:105550	CHCHD10	400916	HP:0002529	Neuronal loss in central nervous system
OMIM:105550	CHCHD10	400916	HP:0002385	Paraparesis
OMIM:105550	CHCHD10	400916	HP:0003581	Adult onset
OMIM:105550	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:105550	CHCHD10	400916	HP:0002186	Apraxia
OMIM:105550	CHCHD10	400916	HP:0001324	Muscle weakness
OMIM:105550	CHCHD10	400916	HP:0000741	Apathy
OMIM:105550	CHCHD10	400916	HP:0000746	Delusions
OMIM:105550	CHCHD10	400916	HP:0000738	Hallucinations
OMIM:105550	CHCHD10	400916	HP:0002171	Gliosis
OMIM:105550	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105550	TBK1	29110	HP:0000716	Depression
OMIM:105550	TBK1	29110	HP:0002366	Abnormal lower motor neuron morphology
OMIM:105550	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:105550	TBK1	29110	HP:0003678	Rapidly progressive
OMIM:105550	TBK1	29110	HP:0002059	Cerebral atrophy
OMIM:105550	TBK1	29110	HP:0001260	Dysarthria
OMIM:105550	TBK1	29110	HP:0001300	Parkinsonism
OMIM:105550	TBK1	29110	HP:0002529	Neuronal loss in central nervous system
OMIM:105550	TBK1	29110	HP:0002385	Paraparesis
OMIM:105550	TBK1	29110	HP:0003581	Adult onset
OMIM:105550	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:105550	TBK1	29110	HP:0002186	Apraxia
OMIM:105550	TBK1	29110	HP:0001324	Muscle weakness
OMIM:105550	TBK1	29110	HP:0000741	Apathy
OMIM:105550	TBK1	29110	HP:0000746	Delusions
OMIM:105550	TBK1	29110	HP:0000738	Hallucinations
OMIM:105550	TBK1	29110	HP:0002171	Gliosis
OMIM:105550	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105550	VCP	7415	HP:0000716	Depression
OMIM:105550	VCP	7415	HP:0002366	Abnormal lower motor neuron morphology
OMIM:105550	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:105550	VCP	7415	HP:0003678	Rapidly progressive
OMIM:105550	VCP	7415	HP:0002059	Cerebral atrophy
OMIM:105550	VCP	7415	HP:0001260	Dysarthria
OMIM:105550	VCP	7415	HP:0001300	Parkinsonism
OMIM:105550	VCP	7415	HP:0002529	Neuronal loss in central nervous system
OMIM:105550	VCP	7415	HP:0002385	Paraparesis
OMIM:105550	VCP	7415	HP:0003581	Adult onset
OMIM:105550	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:105550	VCP	7415	HP:0002186	Apraxia
OMIM:105550	VCP	7415	HP:0001324	Muscle weakness
OMIM:105550	VCP	7415	HP:0000741	Apathy
OMIM:105550	VCP	7415	HP:0000746	Delusions
OMIM:105550	VCP	7415	HP:0000738	Hallucinations
OMIM:105550	VCP	7415	HP:0002171	Gliosis
OMIM:105550	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105550	FUS	2521	HP:0000716	Depression
OMIM:105550	FUS	2521	HP:0002366	Abnormal lower motor neuron morphology
OMIM:105550	FUS	2521	HP:0003202	Skeletal muscle atrophy
OMIM:105550	FUS	2521	HP:0003678	Rapidly progressive
OMIM:105550	FUS	2521	HP:0002059	Cerebral atrophy
OMIM:105550	FUS	2521	HP:0001260	Dysarthria
OMIM:105550	FUS	2521	HP:0001300	Parkinsonism
OMIM:105550	FUS	2521	HP:0002529	Neuronal loss in central nervous system
OMIM:105550	FUS	2521	HP:0002385	Paraparesis
OMIM:105550	FUS	2521	HP:0003581	Adult onset
OMIM:105550	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:105550	FUS	2521	HP:0002186	Apraxia
OMIM:105550	FUS	2521	HP:0001324	Muscle weakness
OMIM:105550	FUS	2521	HP:0000741	Apathy
OMIM:105550	FUS	2521	HP:0000746	Delusions
OMIM:105550	FUS	2521	HP:0000738	Hallucinations
OMIM:105550	FUS	2521	HP:0002171	Gliosis
OMIM:105550	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105550	TARDBP	23435	HP:0000716	Depression
OMIM:105550	TARDBP	23435	HP:0002366	Abnormal lower motor neuron morphology
OMIM:105550	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:105550	TARDBP	23435	HP:0003678	Rapidly progressive
OMIM:105550	TARDBP	23435	HP:0002059	Cerebral atrophy
OMIM:105550	TARDBP	23435	HP:0001260	Dysarthria
OMIM:105550	TARDBP	23435	HP:0001300	Parkinsonism
OMIM:105550	TARDBP	23435	HP:0002529	Neuronal loss in central nervous system
OMIM:105550	TARDBP	23435	HP:0002385	Paraparesis
OMIM:105550	TARDBP	23435	HP:0003581	Adult onset
OMIM:105550	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:105550	TARDBP	23435	HP:0002186	Apraxia
OMIM:105550	TARDBP	23435	HP:0001324	Muscle weakness
OMIM:105550	TARDBP	23435	HP:0000741	Apathy
OMIM:105550	TARDBP	23435	HP:0000746	Delusions
OMIM:105550	TARDBP	23435	HP:0000738	Hallucinations
OMIM:105550	TARDBP	23435	HP:0002171	Gliosis
OMIM:105550	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105550	SQSTM1	8878	HP:0000716	Depression
OMIM:105550	SQSTM1	8878	HP:0002366	Abnormal lower motor neuron morphology
OMIM:105550	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:105550	SQSTM1	8878	HP:0003678	Rapidly progressive
OMIM:105550	SQSTM1	8878	HP:0002059	Cerebral atrophy
OMIM:105550	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:105550	SQSTM1	8878	HP:0001300	Parkinsonism
OMIM:105550	SQSTM1	8878	HP:0002529	Neuronal loss in central nervous system
OMIM:105550	SQSTM1	8878	HP:0002385	Paraparesis
OMIM:105550	SQSTM1	8878	HP:0003581	Adult onset
OMIM:105550	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:105550	SQSTM1	8878	HP:0002186	Apraxia
OMIM:105550	SQSTM1	8878	HP:0001324	Muscle weakness
OMIM:105550	SQSTM1	8878	HP:0000741	Apathy
OMIM:105550	SQSTM1	8878	HP:0000746	Delusions
OMIM:105550	SQSTM1	8878	HP:0000738	Hallucinations
OMIM:105550	SQSTM1	8878	HP:0002171	Gliosis
OMIM:105550	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105550	C9ORF72	203228	HP:0000716	Depression
OMIM:105550	C9ORF72	203228	HP:0002366	Abnormal lower motor neuron morphology
OMIM:105550	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:105550	C9ORF72	203228	HP:0003678	Rapidly progressive
OMIM:105550	C9ORF72	203228	HP:0002059	Cerebral atrophy
OMIM:105550	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:105550	C9ORF72	203228	HP:0001300	Parkinsonism
OMIM:105550	C9ORF72	203228	HP:0002529	Neuronal loss in central nervous system
OMIM:105550	C9ORF72	203228	HP:0002385	Paraparesis
OMIM:105550	C9ORF72	203228	HP:0003581	Adult onset
OMIM:105550	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:105550	C9ORF72	203228	HP:0002186	Apraxia
OMIM:105550	C9ORF72	203228	HP:0001324	Muscle weakness
OMIM:105550	C9ORF72	203228	HP:0000741	Apathy
OMIM:105550	C9ORF72	203228	HP:0000746	Delusions
OMIM:105550	C9ORF72	203228	HP:0000738	Hallucinations
OMIM:105550	C9ORF72	203228	HP:0002171	Gliosis
OMIM:105550	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:308230	CD40LG	959	HP:0004315	IgG deficiency
OMIM:308230	CD40LG	959	HP:0010280	Stomatitis
OMIM:308230	CD40LG	959	HP:0002014	Diarrhea
OMIM:308230	CD40LG	959	HP:0001875	Neutropenia
OMIM:308230	CD40LG	959	HP:0001878	Hemolytic anemia
OMIM:308230	CD40LG	959	HP:0002721	Immunodeficiency
OMIM:308230	CD40LG	959	HP:0002240	Hepatomegaly
OMIM:308230	CD40LG	959	HP:0000230	Gingivitis
OMIM:308230	CD40LG	959	HP:0002718	Recurrent bacterial infections
OMIM:308230	CD40LG	959	HP:0001744	Splenomegaly
OMIM:308230	CD40LG	959	HP:0001873	Thrombocytopenia
OMIM:308230	CD40LG	959	HP:0001419	X-linked recessive inheritance
OMIM:308230	CD40LG	959	HP:0012115	Hepatitis
OMIM:614328	ADAM17	6868	HP:0000498	Blepharitis
OMIM:614328	ADAM17	6868	HP:0011473	Villous atrophy
OMIM:614328	ADAM17	6868	HP:0001880	Eosinophilia
OMIM:614328	ADAM17	6868	HP:0001019	Erythroderma
OMIM:614328	ADAM17	6868	HP:0001818	Paronychia
OMIM:614328	ADAM17	6868	HP:0002573	Hematochezia
OMIM:614328	ADAM17	6868	HP:0002014	Diarrhea
OMIM:614328	ADAM17	6868	HP:0000007	Autosomal recessive inheritance
OMIM:614328	EGFR	1956	HP:0000498	Blepharitis
OMIM:614328	EGFR	1956	HP:0011473	Villous atrophy
OMIM:614328	EGFR	1956	HP:0001880	Eosinophilia
OMIM:614328	EGFR	1956	HP:0001019	Erythroderma
OMIM:614328	EGFR	1956	HP:0001818	Paronychia
OMIM:614328	EGFR	1956	HP:0002573	Hematochezia
OMIM:614328	EGFR	1956	HP:0002014	Diarrhea
OMIM:614328	EGFR	1956	HP:0000007	Autosomal recessive inheritance
OMIM:616084	TRNT1	51095	HP:0003128	Lactic acidosis
OMIM:616084	TRNT1	51095	HP:0001638	Cardiomyopathy
OMIM:616084	TRNT1	51095	HP:0003355	Aminoaciduria
OMIM:616084	TRNT1	51095	HP:0001252	Muscular hypotonia
OMIM:616084	TRNT1	51095	HP:0004313	Decreased antibody level in blood
OMIM:616084	TRNT1	51095	HP:0000407	Sensorineural hearing impairment
OMIM:616084	TRNT1	51095	HP:0002299	Brittle hair
OMIM:616084	TRNT1	51095	HP:0001250	Seizures
OMIM:616084	TRNT1	51095	HP:0001263	Global developmental delay
OMIM:616084	TRNT1	51095	HP:0002059	Cerebral atrophy
OMIM:616084	TRNT1	51095	HP:0001251	Ataxia
OMIM:616084	TRNT1	51095	HP:0000121	Nephrocalcinosis
OMIM:616084	TRNT1	51095	HP:0000510	Rod-cone dystrophy
OMIM:616084	TRNT1	51095	HP:0001510	Growth delay
OMIM:300645	CYBB	1536	HP:0005428	Severe recurrent varicella
OMIM:300645	CYBB	1536	HP:0001419	X-linked recessive inheritance
OMIM:300645	CYBB	1536	HP:0011274	Recurrent mycobacterial infections
OMIM:300914	COL4A6	1288	HP:0001419	X-linked recessive inheritance
OMIM:300914	COL4A6	1288	HP:0008554	Cochlear malformation
OMIM:300914	COL4A6	1288	HP:0000365	Hearing impairment
OMIM:300914	SMPX	23676	HP:0001419	X-linked recessive inheritance
OMIM:300914	SMPX	23676	HP:0008554	Cochlear malformation
OMIM:300914	SMPX	23676	HP:0000365	Hearing impairment
OMIM:300914	PRPS1	5631	HP:0001419	X-linked recessive inheritance
OMIM:300914	PRPS1	5631	HP:0008554	Cochlear malformation
OMIM:300914	PRPS1	5631	HP:0000365	Hearing impairment
OMIM:104300	PSEN2	5664	HP:0000726	Dementia
OMIM:104300	PSEN2	5664	HP:0001425	Heterogeneous
OMIM:104300	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:104300	PSEN2	5664	HP:0001300	Parkinsonism
OMIM:104300	SORL1	6653	HP:0000726	Dementia
OMIM:104300	SORL1	6653	HP:0001425	Heterogeneous
OMIM:104300	SORL1	6653	HP:0000006	Autosomal dominant inheritance
OMIM:104300	SORL1	6653	HP:0001300	Parkinsonism
OMIM:104300	APP	351	HP:0000726	Dementia
OMIM:104300	APP	351	HP:0001425	Heterogeneous
OMIM:104300	APP	351	HP:0000006	Autosomal dominant inheritance
OMIM:104300	APP	351	HP:0001300	Parkinsonism
OMIM:104300	PSEN1	5663	HP:0000726	Dementia
OMIM:104300	PSEN1	5663	HP:0001425	Heterogeneous
OMIM:104300	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:104300	PSEN1	5663	HP:0001300	Parkinsonism
OMIM:614164	GPX1	2876	HP:0000007	Autosomal recessive inheritance
OMIM:171400	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:171400	RET	5979	HP:0000822	Hypertension
OMIM:171400	RET	5979	HP:0001574	Abnormality of the integument
OMIM:171400	RET	5979	HP:0001578	Hypercortisolism
OMIM:171400	RET	5979	HP:0002251	Aganglionic megacolon
OMIM:171400	RET	5979	HP:0000843	Hyperparathyroidism
OMIM:613255	VCL	7414	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613255	VCL	7414	HP:0002094	Dyspnea
OMIM:300495	NLGN4X	57502	HP:0001426	Multifactorial inheritance
OMIM:300495	NLGN4X	57502	HP:0011463	Childhood onset
OMIM:300495	NLGN4X	57502	HP:0002353	EEG abnormality
OMIM:300495	NLGN4X	57502	HP:0001250	Seizures
OMIM:300495	NLGN4X	57502	HP:0001249	Intellectual disability
OMIM:300495	NLGN4X	57502	HP:0003745	Sporadic
OMIM:300495	NLGN4X	57502	HP:0000717	Autism
OMIM:300495	NLGN4X	57502	HP:0001417	X-linked inheritance
OMIM:300495	NLGN4X	57502	HP:0000733	Stereotypic behavior
OMIM:300495	NLGN4X	57502	HP:0000750	Delayed speech and language development
OMIM:610542	GFPT1	2673	HP:0000508	Ptosis
OMIM:610542	GFPT1	2673	HP:0000007	Autosomal recessive inheritance
OMIM:610542	GFPT1	2673	HP:0001270	Motor delay
OMIM:610542	GFPT1	2673	HP:0003394	Muscle cramps
OMIM:610542	GFPT1	2673	HP:0002515	Waddling gait
OMIM:610542	GFPT1	2673	HP:0007126	Proximal amyotrophy
OMIM:610542	GFPT1	2673	HP:0000597	Ophthalmoparesis
OMIM:610542	GFPT1	2673	HP:0003391	Gowers sign
OMIM:610542	GFPT1	2673	HP:0003621	Juvenile onset
OMIM:610542	GFPT1	2673	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:610542	GFPT1	2673	HP:0000467	Neck muscle weakness
OMIM:610542	GFPT1	2673	HP:0010628	Facial palsy
OMIM:610542	ALG14	199857	HP:0000508	Ptosis
OMIM:610542	ALG14	199857	HP:0000007	Autosomal recessive inheritance
OMIM:610542	ALG14	199857	HP:0001270	Motor delay
OMIM:610542	ALG14	199857	HP:0003394	Muscle cramps
OMIM:610542	ALG14	199857	HP:0002515	Waddling gait
OMIM:610542	ALG14	199857	HP:0007126	Proximal amyotrophy
OMIM:610542	ALG14	199857	HP:0000597	Ophthalmoparesis
OMIM:610542	ALG14	199857	HP:0003391	Gowers sign
OMIM:610542	ALG14	199857	HP:0003621	Juvenile onset
OMIM:610542	ALG14	199857	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:610542	ALG14	199857	HP:0000467	Neck muscle weakness
OMIM:610542	ALG14	199857	HP:0010628	Facial palsy
OMIM:610542	ALG2	85365	HP:0000508	Ptosis
OMIM:610542	ALG2	85365	HP:0000007	Autosomal recessive inheritance
OMIM:610542	ALG2	85365	HP:0001270	Motor delay
OMIM:610542	ALG2	85365	HP:0003394	Muscle cramps
OMIM:610542	ALG2	85365	HP:0002515	Waddling gait
OMIM:610542	ALG2	85365	HP:0007126	Proximal amyotrophy
OMIM:610542	ALG2	85365	HP:0000597	Ophthalmoparesis
OMIM:610542	ALG2	85365	HP:0003391	Gowers sign
OMIM:610542	ALG2	85365	HP:0003621	Juvenile onset
OMIM:610542	ALG2	85365	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:610542	ALG2	85365	HP:0000467	Neck muscle weakness
OMIM:610542	ALG2	85365	HP:0010628	Facial palsy
OMIM:610542	DPAGT1	1798	HP:0000508	Ptosis
OMIM:610542	DPAGT1	1798	HP:0000007	Autosomal recessive inheritance
OMIM:610542	DPAGT1	1798	HP:0001270	Motor delay
OMIM:610542	DPAGT1	1798	HP:0003394	Muscle cramps
OMIM:610542	DPAGT1	1798	HP:0002515	Waddling gait
OMIM:610542	DPAGT1	1798	HP:0007126	Proximal amyotrophy
OMIM:610542	DPAGT1	1798	HP:0000597	Ophthalmoparesis
OMIM:610542	DPAGT1	1798	HP:0003391	Gowers sign
OMIM:610542	DPAGT1	1798	HP:0003621	Juvenile onset
OMIM:610542	DPAGT1	1798	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:610542	DPAGT1	1798	HP:0000467	Neck muscle weakness
OMIM:610542	DPAGT1	1798	HP:0010628	Facial palsy
OMIM:265380	FOXF1	2294	HP:0100867	Duodenal stenosis
OMIM:265380	FOXF1	2294	HP:0002566	Intestinal malrotation
OMIM:265380	FOXF1	2294	HP:0001629	Ventricular septal defect
OMIM:265380	FOXF1	2294	HP:0001679	Abnormality of the aorta
OMIM:265380	FOXF1	2294	HP:0000007	Autosomal recessive inheritance
OMIM:265380	FOXF1	2294	HP:0001674	Complete atrioventricular canal defect
OMIM:265380	FOXF1	2294	HP:0001636	Tetralogy of Fallot
OMIM:265380	FOXF1	2294	HP:0000126	Hydronephrosis
OMIM:265380	FOXF1	2294	HP:0001743	Abnormality of the spleen
OMIM:265380	FOXF1	2294	HP:0002251	Aganglionic megacolon
OMIM:265380	FOXF1	2294	HP:0000072	Hydroureter
OMIM:265380	FOXF1	2294	HP:0002245	Meckel diverticulum
OMIM:265380	FOXF1	2294	HP:0002247	Duodenal atresia
OMIM:265380	FOXF1	2294	HP:0010444	Pulmonary insufficiency
OMIM:265380	FOXF1	2294	HP:0010935	Abnormality of the upper urinary tract
OMIM:265380	FOXF1	2294	HP:0001631	Atria septal defect
OMIM:265380	FOXF1	2294	HP:0001646	Abnormality of the aortic valve
OMIM:265380	FOXF1	2294	HP:0002093	Respiratory insufficiency
OMIM:265380	FOXF1	2294	HP:0003312	Abnormal form of the vertebral bodies
OMIM:265380	FOXF1	2294	HP:0005264	Abnormality of the gallbladder
OMIM:265380	FOXF1	2294	HP:0001561	Polyhydramnios
OMIM:265380	FOXF1	2294	HP:0000822	Hypertension
OMIM:265380	FOXF1	2294	HP:0001643	Patent ductus arteriosus
OMIM:265380	FOXF1	2294	HP:0100589	Urogenital fistula
OMIM:265380	FOXF1	2294	HP:0002575	Tracheoesophageal fistula
OMIM:265380	FOXF1	2294	HP:0001641	Abnormality of the pulmonary valve
OMIM:265380	FOXF1	2294	HP:0004383	Hypoplastic left heart
OMIM:265380	FOXF1	2294	HP:0002101	Abnormal lung lobation
OMIM:601675	ERCC2	2068	HP:0001019	Erythroderma
OMIM:601675	ERCC2	2068	HP:0000252	Microcephaly
OMIM:601675	ERCC2	2068	HP:0002099	Asthma
OMIM:601675	ERCC2	2068	HP:0001249	Intellectual disability
OMIM:601675	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
OMIM:601675	ERCC2	2068	HP:0000765	Abnormality of the thorax
OMIM:601675	ERCC2	2068	HP:0005214	Intestinal obstruction
OMIM:601675	ERCC2	2068	HP:0002719	Recurrent infections
OMIM:601675	ERCC2	2068	HP:0000518	Cataract
OMIM:601675	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:601675	ERCC2	2068	HP:0001371	Flexion contracture
OMIM:601675	ERCC2	2068	HP:0001518	Small for gestational age
OMIM:601675	ERCC2	2068	HP:0004315	IgG deficiency
OMIM:601675	ERCC2	2068	HP:0004322	Short stature
OMIM:601675	ERCC2	2068	HP:0000271	Abnormality of the face
OMIM:601675	ERCC2	2068	HP:0000135	Hypogonadism
OMIM:601675	ERCC2	2068	HP:0002299	Brittle hair
OMIM:601675	MPLKIP	136647	HP:0001019	Erythroderma
OMIM:601675	MPLKIP	136647	HP:0000252	Microcephaly
OMIM:601675	MPLKIP	136647	HP:0002099	Asthma
OMIM:601675	MPLKIP	136647	HP:0001249	Intellectual disability
OMIM:601675	MPLKIP	136647	HP:0000992	Cutaneous photosensitivity
OMIM:601675	MPLKIP	136647	HP:0000765	Abnormality of the thorax
OMIM:601675	MPLKIP	136647	HP:0005214	Intestinal obstruction
OMIM:601675	MPLKIP	136647	HP:0002719	Recurrent infections
OMIM:601675	MPLKIP	136647	HP:0000518	Cataract
OMIM:601675	MPLKIP	136647	HP:0000007	Autosomal recessive inheritance
OMIM:601675	MPLKIP	136647	HP:0001371	Flexion contracture
OMIM:601675	MPLKIP	136647	HP:0001518	Small for gestational age
OMIM:601675	MPLKIP	136647	HP:0004315	IgG deficiency
OMIM:601675	MPLKIP	136647	HP:0004322	Short stature
OMIM:601675	MPLKIP	136647	HP:0000271	Abnormality of the face
OMIM:601675	MPLKIP	136647	HP:0000135	Hypogonadism
OMIM:601675	MPLKIP	136647	HP:0002299	Brittle hair
OMIM:601675	GTF2H5	404672	HP:0001019	Erythroderma
OMIM:601675	GTF2H5	404672	HP:0000252	Microcephaly
OMIM:601675	GTF2H5	404672	HP:0002099	Asthma
OMIM:601675	GTF2H5	404672	HP:0001249	Intellectual disability
OMIM:601675	GTF2H5	404672	HP:0000992	Cutaneous photosensitivity
OMIM:601675	GTF2H5	404672	HP:0000765	Abnormality of the thorax
OMIM:601675	GTF2H5	404672	HP:0005214	Intestinal obstruction
OMIM:601675	GTF2H5	404672	HP:0002719	Recurrent infections
OMIM:601675	GTF2H5	404672	HP:0000518	Cataract
OMIM:601675	GTF2H5	404672	HP:0000007	Autosomal recessive inheritance
OMIM:601675	GTF2H5	404672	HP:0001371	Flexion contracture
OMIM:601675	GTF2H5	404672	HP:0001518	Small for gestational age
OMIM:601675	GTF2H5	404672	HP:0004315	IgG deficiency
OMIM:601675	GTF2H5	404672	HP:0004322	Short stature
OMIM:601675	GTF2H5	404672	HP:0000271	Abnormality of the face
OMIM:601675	GTF2H5	404672	HP:0000135	Hypogonadism
OMIM:601675	GTF2H5	404672	HP:0002299	Brittle hair
OMIM:601675	ERCC3	2071	HP:0001019	Erythroderma
OMIM:601675	ERCC3	2071	HP:0000252	Microcephaly
OMIM:601675	ERCC3	2071	HP:0002099	Asthma
OMIM:601675	ERCC3	2071	HP:0001249	Intellectual disability
OMIM:601675	ERCC3	2071	HP:0000992	Cutaneous photosensitivity
OMIM:601675	ERCC3	2071	HP:0000765	Abnormality of the thorax
OMIM:601675	ERCC3	2071	HP:0005214	Intestinal obstruction
OMIM:601675	ERCC3	2071	HP:0002719	Recurrent infections
OMIM:601675	ERCC3	2071	HP:0000518	Cataract
OMIM:601675	ERCC3	2071	HP:0000007	Autosomal recessive inheritance
OMIM:601675	ERCC3	2071	HP:0001371	Flexion contracture
OMIM:601675	ERCC3	2071	HP:0001518	Small for gestational age
OMIM:601675	ERCC3	2071	HP:0004315	IgG deficiency
OMIM:601675	ERCC3	2071	HP:0004322	Short stature
OMIM:601675	ERCC3	2071	HP:0000271	Abnormality of the face
OMIM:601675	ERCC3	2071	HP:0000135	Hypogonadism
OMIM:601675	ERCC3	2071	HP:0002299	Brittle hair
OMIM:601675	RNF113A	7737	HP:0001019	Erythroderma
OMIM:601675	RNF113A	7737	HP:0000252	Microcephaly
OMIM:601675	RNF113A	7737	HP:0002099	Asthma
OMIM:601675	RNF113A	7737	HP:0001249	Intellectual disability
OMIM:601675	RNF113A	7737	HP:0000992	Cutaneous photosensitivity
OMIM:601675	RNF113A	7737	HP:0000765	Abnormality of the thorax
OMIM:601675	RNF113A	7737	HP:0005214	Intestinal obstruction
OMIM:601675	RNF113A	7737	HP:0002719	Recurrent infections
OMIM:601675	RNF113A	7737	HP:0000518	Cataract
OMIM:601675	RNF113A	7737	HP:0000007	Autosomal recessive inheritance
OMIM:601675	RNF113A	7737	HP:0001371	Flexion contracture
OMIM:601675	RNF113A	7737	HP:0001518	Small for gestational age
OMIM:601675	RNF113A	7737	HP:0004315	IgG deficiency
OMIM:601675	RNF113A	7737	HP:0004322	Short stature
OMIM:601675	RNF113A	7737	HP:0000271	Abnormality of the face
OMIM:601675	RNF113A	7737	HP:0000135	Hypogonadism
OMIM:601675	RNF113A	7737	HP:0002299	Brittle hair
OMIM:215500	GUCY2D	3000	HP:0000533	Chorioretinal atrophy
OMIM:215500	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:215500	PRPH2	5961	HP:0000533	Chorioretinal atrophy
OMIM:215500	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:609621	KCNQ1	3784	HP:0012232	Shortened QT interval
OMIM:609621	KCNQ1	3784	HP:0005110	Atrial fibrillation
OMIM:609621	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:609621	KCNQ1	3784	HP:0001279	Syncope
OMIM:609621	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:609621	KCNH2	3757	HP:0012232	Shortened QT interval
OMIM:609621	KCNH2	3757	HP:0005110	Atrial fibrillation
OMIM:609621	KCNH2	3757	HP:0001645	Sudden cardiac death
OMIM:609621	KCNH2	3757	HP:0001279	Syncope
OMIM:609621	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:609621	CACNA2D1	781	HP:0012232	Shortened QT interval
OMIM:609621	CACNA2D1	781	HP:0005110	Atrial fibrillation
OMIM:609621	CACNA2D1	781	HP:0001645	Sudden cardiac death
OMIM:609621	CACNA2D1	781	HP:0001279	Syncope
OMIM:609621	CACNA2D1	781	HP:0000006	Autosomal dominant inheritance
OMIM:609621	KCNJ2	3759	HP:0012232	Shortened QT interval
OMIM:609621	KCNJ2	3759	HP:0005110	Atrial fibrillation
OMIM:609621	KCNJ2	3759	HP:0001645	Sudden cardiac death
OMIM:609621	KCNJ2	3759	HP:0001279	Syncope
OMIM:609621	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:613385	ITCH	83737	HP:0000007	Autosomal recessive inheritance
OMIM:613385	ITCH	83737	HP:0000268	Dolichocephaly
OMIM:613385	ITCH	83737	HP:0001999	Abnormal facial shape
OMIM:613385	ITCH	83737	HP:0001744	Splenomegaly
OMIM:613385	ITCH	83737	HP:0000369	Low-set ears
OMIM:613385	ITCH	83737	HP:0000331	Short chin
OMIM:613385	ITCH	83737	HP:0002960	Autoimmunity
OMIM:613385	ITCH	83737	HP:0000520	Proptosis
OMIM:613385	ITCH	83737	HP:0012385	Camptodactyly
OMIM:613385	ITCH	83737	HP:0002007	Frontal bossing
OMIM:613385	ITCH	83737	HP:0004482	Relative macrocephaly
OMIM:613385	ITCH	83737	HP:0001263	Global developmental delay
OMIM:613385	ITCH	83737	HP:0000269	Prominent occiput
OMIM:613385	ITCH	83737	HP:0000358	Posteriorly rotated ears
OMIM:613385	ITCH	83737	HP:0002028	Chronic diarrhea
OMIM:613385	ITCH	83737	HP:0030084	Clinodactyly
OMIM:613385	ITCH	83737	HP:0002240	Hepatomegaly
OMIM:611182	COG8	84342	HP:0002133	Status epilepticus
OMIM:611182	COG8	84342	HP:0001298	Encephalopathy
OMIM:611182	COG8	84342	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611182	COG8	84342	HP:0001252	Muscular hypotonia
OMIM:611182	COG8	84342	HP:0001272	Cerebellar atrophy
OMIM:611182	COG8	84342	HP:0002119	Ventriculomegaly
OMIM:611182	COG8	84342	HP:0001249	Intellectual disability
OMIM:611182	COG8	84342	HP:0000007	Autosomal recessive inheritance
OMIM:615926	ARNT2	9915	HP:0000873	Diabetes insipidus
OMIM:615926	ARNT2	9915	HP:0000824	Growth hormone deficiency
OMIM:615926	ARNT2	9915	HP:0001263	Global developmental delay
OMIM:615926	ARNT2	9915	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615926	ARNT2	9915	HP:0012448	Delayed myelination
OMIM:615926	ARNT2	9915	HP:0000028	Cryptorchidism
OMIM:615926	ARNT2	9915	HP:0000126	Hydronephrosis
OMIM:615926	ARNT2	9915	HP:0000278	Retrognathia
OMIM:615926	ARNT2	9915	HP:0001250	Seizures
OMIM:615926	ARNT2	9915	HP:0002020	Gastroesophageal reflux
OMIM:615926	ARNT2	9915	HP:0000076	Vesicoureteral reflux
OMIM:615926	ARNT2	9915	HP:0002827	Hip dislocation
OMIM:615926	ARNT2	9915	HP:0011220	Prominent forehead
OMIM:615926	ARNT2	9915	HP:0000252	Microcephaly
OMIM:615926	ARNT2	9915	HP:0001257	Spasticity
OMIM:615926	ARNT2	9915	HP:0000490	Deeply set eye
ORPHANET:2573	RNF213	57674	HP:0100543	Cognitive impairment
ORPHANET:2573	RNF213	57674	HP:0001250	Seizures
ORPHANET:2573	RNF213	57674	HP:0100659	Abnormality of the cerebral vasculature
ORPHANET:2573	RNF213	57674	HP:0002119	Ventriculomegaly
ORPHANET:2573	ACTA2	59	HP:0100543	Cognitive impairment
ORPHANET:2573	ACTA2	59	HP:0001250	Seizures
ORPHANET:2573	ACTA2	59	HP:0100659	Abnormality of the cerebral vasculature
ORPHANET:2573	ACTA2	59	HP:0002119	Ventriculomegaly
OMIM:616367	EDNRA	1909	HP:0000535	Sparse eyebrow
OMIM:616367	EDNRA	1909	HP:0000384	Preauricular skin tag
OMIM:616367	EDNRA	1909	HP:0000232	Everted lower lip vermilion
OMIM:616367	EDNRA	1909	HP:0001647	Bicuspid aortic valve
OMIM:616367	EDNRA	1909	HP:0000327	Hypoplasia of the maxilla
OMIM:616367	EDNRA	1909	HP:0000175	Cleft palate
OMIM:616367	EDNRA	1909	HP:0000324	Facial asymmetry
OMIM:616367	EDNRA	1909	HP:0004467	Preauricular pit
OMIM:616367	EDNRA	1909	HP:0000072	Hydroureter
OMIM:616367	EDNRA	1909	HP:0000405	Conductive hearing impairment
OMIM:616367	EDNRA	1909	HP:0000680	Delayed eruption of primary teeth
OMIM:616367	EDNRA	1909	HP:0000402	Stenosis of the external auditory canal
OMIM:616367	EDNRA	1909	HP:0000653	Sparse eyelashes
OMIM:616367	EDNRA	1909	HP:0000347	Micrognathia
OMIM:616367	EDNRA	1909	HP:0000411	Protruding ear
OMIM:616367	EDNRA	1909	HP:0000369	Low-set ears
OMIM:616367	EDNRA	1909	HP:0000431	Wide nasal bridge
OMIM:616367	EDNRA	1909	HP:0000678	Dental crowding
OMIM:616367	EDNRA	1909	HP:0000162	Glossoptosis
OMIM:616367	EDNRA	1909	HP:0000378	Cupped ear
OMIM:609016	HADHA	3030	HP:0000580	Pigmentary retinopathy
OMIM:609016	HADHA	3030	HP:0001699	Sudden death
OMIM:609016	HADHA	3030	HP:0001252	Muscular hypotonia
OMIM:609016	HADHA	3030	HP:0001638	Cardiomyopathy
OMIM:609016	HADHA	3030	HP:0002240	Hepatomegaly
OMIM:609016	HADHA	3030	HP:0001943	Hypoglycemia
OMIM:206500	VANGL2	57216	HP:0008207	Primary adrenal insufficiency
OMIM:206500	VANGL2	57216	HP:0002323	Anencephaly
OMIM:206500	VANGL2	57216	HP:0002414	Spina bifida
OMIM:206500	MTHFR	4524	HP:0008207	Primary adrenal insufficiency
OMIM:206500	MTHFR	4524	HP:0002323	Anencephaly
OMIM:206500	MTHFR	4524	HP:0002414	Spina bifida
OMIM:139300	CYP19A1	1588	HP:0005616	Accelerated skeletal maturation
OMIM:139300	CYP19A1	1588	HP:0000006	Autosomal dominant inheritance
OMIM:139300	CYP19A1	1588	HP:0004322	Short stature
OMIM:613804	CDT1	81620	HP:0000160	Narrow mouth
OMIM:613804	CDT1	81620	HP:0006443	Patellar aplasia
OMIM:613804	CDT1	81620	HP:0002750	Delayed skeletal maturation
OMIM:613804	CDT1	81620	HP:0008551	Microtia
OMIM:613804	CDT1	81620	HP:0002816	Genu recurvatum
OMIM:613804	CDT1	81620	HP:0000179	Thick lower lip vermilion
OMIM:613804	CDT1	81620	HP:0001511	Intrauterine growth retardation
OMIM:613804	CDT1	81620	HP:0002097	Emphysema
OMIM:613804	CDT1	81620	HP:0000028	Cryptorchidism
OMIM:613804	CDT1	81620	HP:0000252	Microcephaly
OMIM:613804	CDT1	81620	HP:0000327	Hypoplasia of the maxilla
OMIM:613804	CDT1	81620	HP:0000369	Low-set ears
OMIM:613804	CDT1	81620	HP:0000347	Micrognathia
OMIM:613804	CDT1	81620	HP:0001508	Failure to thrive
OMIM:613804	CDT1	81620	HP:0003100	Slender long bone
OMIM:613804	CDT1	81620	HP:0000007	Autosomal recessive inheritance
OMIM:613804	CDT1	81620	HP:0011968	Feeding difficulties
OMIM:613804	ORC1	4998	HP:0000160	Narrow mouth
OMIM:613804	ORC1	4998	HP:0006443	Patellar aplasia
OMIM:613804	ORC1	4998	HP:0002750	Delayed skeletal maturation
OMIM:613804	ORC1	4998	HP:0008551	Microtia
OMIM:613804	ORC1	4998	HP:0002816	Genu recurvatum
OMIM:613804	ORC1	4998	HP:0000179	Thick lower lip vermilion
OMIM:613804	ORC1	4998	HP:0001511	Intrauterine growth retardation
OMIM:613804	ORC1	4998	HP:0002097	Emphysema
OMIM:613804	ORC1	4998	HP:0000028	Cryptorchidism
OMIM:613804	ORC1	4998	HP:0000252	Microcephaly
OMIM:613804	ORC1	4998	HP:0000327	Hypoplasia of the maxilla
OMIM:613804	ORC1	4998	HP:0000369	Low-set ears
OMIM:613804	ORC1	4998	HP:0000347	Micrognathia
OMIM:613804	ORC1	4998	HP:0001508	Failure to thrive
OMIM:613804	ORC1	4998	HP:0003100	Slender long bone
OMIM:613804	ORC1	4998	HP:0000007	Autosomal recessive inheritance
OMIM:613804	ORC1	4998	HP:0011968	Feeding difficulties
OMIM:613804	ORC4	5000	HP:0000160	Narrow mouth
OMIM:613804	ORC4	5000	HP:0006443	Patellar aplasia
OMIM:613804	ORC4	5000	HP:0002750	Delayed skeletal maturation
OMIM:613804	ORC4	5000	HP:0008551	Microtia
OMIM:613804	ORC4	5000	HP:0002816	Genu recurvatum
OMIM:613804	ORC4	5000	HP:0000179	Thick lower lip vermilion
OMIM:613804	ORC4	5000	HP:0001511	Intrauterine growth retardation
OMIM:613804	ORC4	5000	HP:0002097	Emphysema
OMIM:613804	ORC4	5000	HP:0000028	Cryptorchidism
OMIM:613804	ORC4	5000	HP:0000252	Microcephaly
OMIM:613804	ORC4	5000	HP:0000327	Hypoplasia of the maxilla
OMIM:613804	ORC4	5000	HP:0000369	Low-set ears
OMIM:613804	ORC4	5000	HP:0000347	Micrognathia
OMIM:613804	ORC4	5000	HP:0001508	Failure to thrive
OMIM:613804	ORC4	5000	HP:0003100	Slender long bone
OMIM:613804	ORC4	5000	HP:0000007	Autosomal recessive inheritance
OMIM:613804	ORC4	5000	HP:0011968	Feeding difficulties
OMIM:613804	ORC6	23594	HP:0000160	Narrow mouth
OMIM:613804	ORC6	23594	HP:0006443	Patellar aplasia
OMIM:613804	ORC6	23594	HP:0002750	Delayed skeletal maturation
OMIM:613804	ORC6	23594	HP:0008551	Microtia
OMIM:613804	ORC6	23594	HP:0002816	Genu recurvatum
OMIM:613804	ORC6	23594	HP:0000179	Thick lower lip vermilion
OMIM:613804	ORC6	23594	HP:0001511	Intrauterine growth retardation
OMIM:613804	ORC6	23594	HP:0002097	Emphysema
OMIM:613804	ORC6	23594	HP:0000028	Cryptorchidism
OMIM:613804	ORC6	23594	HP:0000252	Microcephaly
OMIM:613804	ORC6	23594	HP:0000327	Hypoplasia of the maxilla
OMIM:613804	ORC6	23594	HP:0000369	Low-set ears
OMIM:613804	ORC6	23594	HP:0000347	Micrognathia
OMIM:613804	ORC6	23594	HP:0001508	Failure to thrive
OMIM:613804	ORC6	23594	HP:0003100	Slender long bone
OMIM:613804	ORC6	23594	HP:0000007	Autosomal recessive inheritance
OMIM:613804	ORC6	23594	HP:0011968	Feeding difficulties
OMIM:613804	CDC6	990	HP:0000160	Narrow mouth
OMIM:613804	CDC6	990	HP:0006443	Patellar aplasia
OMIM:613804	CDC6	990	HP:0002750	Delayed skeletal maturation
OMIM:613804	CDC6	990	HP:0008551	Microtia
OMIM:613804	CDC6	990	HP:0002816	Genu recurvatum
OMIM:613804	CDC6	990	HP:0000179	Thick lower lip vermilion
OMIM:613804	CDC6	990	HP:0001511	Intrauterine growth retardation
OMIM:613804	CDC6	990	HP:0002097	Emphysema
OMIM:613804	CDC6	990	HP:0000028	Cryptorchidism
OMIM:613804	CDC6	990	HP:0000252	Microcephaly
OMIM:613804	CDC6	990	HP:0000327	Hypoplasia of the maxilla
OMIM:613804	CDC6	990	HP:0000369	Low-set ears
OMIM:613804	CDC6	990	HP:0000347	Micrognathia
OMIM:613804	CDC6	990	HP:0001508	Failure to thrive
OMIM:613804	CDC6	990	HP:0003100	Slender long bone
OMIM:613804	CDC6	990	HP:0000007	Autosomal recessive inheritance
OMIM:613804	CDC6	990	HP:0011968	Feeding difficulties
OMIM:611875	SCN10A	6336	HP:0001279	Syncope
OMIM:611875	SCN10A	6336	HP:0005110	Atrial fibrillation
OMIM:611875	SCN10A	6336	HP:0001645	Sudden cardiac death
OMIM:611875	SCN10A	6336	HP:0012272	J wave
OMIM:611875	SCN10A	6336	HP:0000006	Autosomal dominant inheritance
OMIM:611875	SCN10A	6336	HP:0012232	Shortened QT interval
OMIM:611875	SCN10A	6336	HP:0004308	Ventricular arrhythmia
OMIM:611875	GPD1L	23171	HP:0001279	Syncope
OMIM:611875	GPD1L	23171	HP:0005110	Atrial fibrillation
OMIM:611875	GPD1L	23171	HP:0001645	Sudden cardiac death
OMIM:611875	GPD1L	23171	HP:0012272	J wave
OMIM:611875	GPD1L	23171	HP:0000006	Autosomal dominant inheritance
OMIM:611875	GPD1L	23171	HP:0012232	Shortened QT interval
OMIM:611875	GPD1L	23171	HP:0004308	Ventricular arrhythmia
OMIM:611875	HCN4	10021	HP:0001279	Syncope
OMIM:611875	HCN4	10021	HP:0005110	Atrial fibrillation
OMIM:611875	HCN4	10021	HP:0001645	Sudden cardiac death
OMIM:611875	HCN4	10021	HP:0012272	J wave
OMIM:611875	HCN4	10021	HP:0000006	Autosomal dominant inheritance
OMIM:611875	HCN4	10021	HP:0012232	Shortened QT interval
OMIM:611875	HCN4	10021	HP:0004308	Ventricular arrhythmia
OMIM:611875	CACNA1C	775	HP:0001279	Syncope
OMIM:611875	CACNA1C	775	HP:0005110	Atrial fibrillation
OMIM:611875	CACNA1C	775	HP:0001645	Sudden cardiac death
OMIM:611875	CACNA1C	775	HP:0012272	J wave
OMIM:611875	CACNA1C	775	HP:0000006	Autosomal dominant inheritance
OMIM:611875	CACNA1C	775	HP:0012232	Shortened QT interval
OMIM:611875	CACNA1C	775	HP:0004308	Ventricular arrhythmia
OMIM:611875	KCND3	3752	HP:0001279	Syncope
OMIM:611875	KCND3	3752	HP:0005110	Atrial fibrillation
OMIM:611875	KCND3	3752	HP:0001645	Sudden cardiac death
OMIM:611875	KCND3	3752	HP:0012272	J wave
OMIM:611875	KCND3	3752	HP:0000006	Autosomal dominant inheritance
OMIM:611875	KCND3	3752	HP:0012232	Shortened QT interval
OMIM:611875	KCND3	3752	HP:0004308	Ventricular arrhythmia
OMIM:611875	TRPM4	54795	HP:0001279	Syncope
OMIM:611875	TRPM4	54795	HP:0005110	Atrial fibrillation
OMIM:611875	TRPM4	54795	HP:0001645	Sudden cardiac death
OMIM:611875	TRPM4	54795	HP:0012272	J wave
OMIM:611875	TRPM4	54795	HP:0000006	Autosomal dominant inheritance
OMIM:611875	TRPM4	54795	HP:0012232	Shortened QT interval
OMIM:611875	TRPM4	54795	HP:0004308	Ventricular arrhythmia
OMIM:611875	CACNA2D1	781	HP:0001279	Syncope
OMIM:611875	CACNA2D1	781	HP:0005110	Atrial fibrillation
OMIM:611875	CACNA2D1	781	HP:0001645	Sudden cardiac death
OMIM:611875	CACNA2D1	781	HP:0012272	J wave
OMIM:611875	CACNA2D1	781	HP:0000006	Autosomal dominant inheritance
OMIM:611875	CACNA2D1	781	HP:0012232	Shortened QT interval
OMIM:611875	CACNA2D1	781	HP:0004308	Ventricular arrhythmia
OMIM:611875	CACNB2	783	HP:0001279	Syncope
OMIM:611875	CACNB2	783	HP:0005110	Atrial fibrillation
OMIM:611875	CACNB2	783	HP:0001645	Sudden cardiac death
OMIM:611875	CACNB2	783	HP:0012272	J wave
OMIM:611875	CACNB2	783	HP:0000006	Autosomal dominant inheritance
OMIM:611875	CACNB2	783	HP:0012232	Shortened QT interval
OMIM:611875	CACNB2	783	HP:0004308	Ventricular arrhythmia
OMIM:611875	SCN1B	6324	HP:0001279	Syncope
OMIM:611875	SCN1B	6324	HP:0005110	Atrial fibrillation
OMIM:611875	SCN1B	6324	HP:0001645	Sudden cardiac death
OMIM:611875	SCN1B	6324	HP:0012272	J wave
OMIM:611875	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:611875	SCN1B	6324	HP:0012232	Shortened QT interval
OMIM:611875	SCN1B	6324	HP:0004308	Ventricular arrhythmia
OMIM:611875	KCNJ8	3764	HP:0001279	Syncope
OMIM:611875	KCNJ8	3764	HP:0005110	Atrial fibrillation
OMIM:611875	KCNJ8	3764	HP:0001645	Sudden cardiac death
OMIM:611875	KCNJ8	3764	HP:0012272	J wave
OMIM:611875	KCNJ8	3764	HP:0000006	Autosomal dominant inheritance
OMIM:611875	KCNJ8	3764	HP:0012232	Shortened QT interval
OMIM:611875	KCNJ8	3764	HP:0004308	Ventricular arrhythmia
OMIM:611875	KCNE3	10008	HP:0001279	Syncope
OMIM:611875	KCNE3	10008	HP:0005110	Atrial fibrillation
OMIM:611875	KCNE3	10008	HP:0001645	Sudden cardiac death
OMIM:611875	KCNE3	10008	HP:0012272	J wave
OMIM:611875	KCNE3	10008	HP:0000006	Autosomal dominant inheritance
OMIM:611875	KCNE3	10008	HP:0012232	Shortened QT interval
OMIM:611875	KCNE3	10008	HP:0004308	Ventricular arrhythmia
OMIM:611875	SCN3B	55800	HP:0001279	Syncope
OMIM:611875	SCN3B	55800	HP:0005110	Atrial fibrillation
OMIM:611875	SCN3B	55800	HP:0001645	Sudden cardiac death
OMIM:611875	SCN3B	55800	HP:0012272	J wave
OMIM:611875	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:611875	SCN3B	55800	HP:0012232	Shortened QT interval
OMIM:611875	SCN3B	55800	HP:0004308	Ventricular arrhythmia
OMIM:611875	SCN5A	6331	HP:0001279	Syncope
OMIM:611875	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:611875	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:611875	SCN5A	6331	HP:0012272	J wave
OMIM:611875	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:611875	SCN5A	6331	HP:0012232	Shortened QT interval
OMIM:611875	SCN5A	6331	HP:0004308	Ventricular arrhythmia
OMIM:611875	SLMAP	7871	HP:0001279	Syncope
OMIM:611875	SLMAP	7871	HP:0005110	Atrial fibrillation
OMIM:611875	SLMAP	7871	HP:0001645	Sudden cardiac death
OMIM:611875	SLMAP	7871	HP:0012272	J wave
OMIM:611875	SLMAP	7871	HP:0000006	Autosomal dominant inheritance
OMIM:611875	SLMAP	7871	HP:0012232	Shortened QT interval
OMIM:611875	SLMAP	7871	HP:0004308	Ventricular arrhythmia
ORPHANET:3156	WDR19	57728	HP:0004348	Abnormality of bone mineral density
ORPHANET:3156	WDR19	57728	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3156	WDR19	57728	HP:0000113	Polycystic kidney dysplasia
ORPHANET:3156	WDR19	57728	HP:0000505	Visual impairment
ORPHANET:3156	WDR19	57728	HP:0000518	Cataract
ORPHANET:3156	WDR19	57728	HP:0004322	Short stature
ORPHANET:3156	WDR19	57728	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:3156	WDR19	57728	HP:0010579	Cone-shaped epiphysis
ORPHANET:3156	WDR19	57728	HP:0000822	Hypertension
ORPHANET:3156	WDR19	57728	HP:0002311	Incoordination
ORPHANET:3156	WDR19	57728	HP:0100543	Cognitive impairment
ORPHANET:3156	WDR19	57728	HP:0000091	Abnormality of the renal tubule
ORPHANET:3156	CEP164	22897	HP:0004348	Abnormality of bone mineral density
ORPHANET:3156	CEP164	22897	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3156	CEP164	22897	HP:0000113	Polycystic kidney dysplasia
ORPHANET:3156	CEP164	22897	HP:0000505	Visual impairment
ORPHANET:3156	CEP164	22897	HP:0000518	Cataract
ORPHANET:3156	CEP164	22897	HP:0004322	Short stature
ORPHANET:3156	CEP164	22897	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:3156	CEP164	22897	HP:0010579	Cone-shaped epiphysis
ORPHANET:3156	CEP164	22897	HP:0000822	Hypertension
ORPHANET:3156	CEP164	22897	HP:0002311	Incoordination
ORPHANET:3156	CEP164	22897	HP:0100543	Cognitive impairment
ORPHANET:3156	CEP164	22897	HP:0000091	Abnormality of the renal tubule
ORPHANET:3156	TRAF3IP1	26146	HP:0004348	Abnormality of bone mineral density
ORPHANET:3156	TRAF3IP1	26146	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3156	TRAF3IP1	26146	HP:0000113	Polycystic kidney dysplasia
ORPHANET:3156	TRAF3IP1	26146	HP:0000505	Visual impairment
ORPHANET:3156	TRAF3IP1	26146	HP:0000518	Cataract
ORPHANET:3156	TRAF3IP1	26146	HP:0004322	Short stature
ORPHANET:3156	TRAF3IP1	26146	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:3156	TRAF3IP1	26146	HP:0010579	Cone-shaped epiphysis
ORPHANET:3156	TRAF3IP1	26146	HP:0000822	Hypertension
ORPHANET:3156	TRAF3IP1	26146	HP:0002311	Incoordination
ORPHANET:3156	TRAF3IP1	26146	HP:0100543	Cognitive impairment
ORPHANET:3156	TRAF3IP1	26146	HP:0000091	Abnormality of the renal tubule
ORPHANET:3156	NPHP1	4867	HP:0004348	Abnormality of bone mineral density
ORPHANET:3156	NPHP1	4867	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3156	NPHP1	4867	HP:0000113	Polycystic kidney dysplasia
ORPHANET:3156	NPHP1	4867	HP:0000505	Visual impairment
ORPHANET:3156	NPHP1	4867	HP:0000518	Cataract
ORPHANET:3156	NPHP1	4867	HP:0004322	Short stature
ORPHANET:3156	NPHP1	4867	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:3156	NPHP1	4867	HP:0010579	Cone-shaped epiphysis
ORPHANET:3156	NPHP1	4867	HP:0000822	Hypertension
ORPHANET:3156	NPHP1	4867	HP:0002311	Incoordination
ORPHANET:3156	NPHP1	4867	HP:0100543	Cognitive impairment
ORPHANET:3156	NPHP1	4867	HP:0000091	Abnormality of the renal tubule
ORPHANET:3156	NPHP4	261734	HP:0004348	Abnormality of bone mineral density
ORPHANET:3156	NPHP4	261734	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3156	NPHP4	261734	HP:0000113	Polycystic kidney dysplasia
ORPHANET:3156	NPHP4	261734	HP:0000505	Visual impairment
ORPHANET:3156	NPHP4	261734	HP:0000518	Cataract
ORPHANET:3156	NPHP4	261734	HP:0004322	Short stature
ORPHANET:3156	NPHP4	261734	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:3156	NPHP4	261734	HP:0010579	Cone-shaped epiphysis
ORPHANET:3156	NPHP4	261734	HP:0000822	Hypertension
ORPHANET:3156	NPHP4	261734	HP:0002311	Incoordination
ORPHANET:3156	NPHP4	261734	HP:0100543	Cognitive impairment
ORPHANET:3156	NPHP4	261734	HP:0000091	Abnormality of the renal tubule
ORPHANET:3156	SDCCAG8	10806	HP:0004348	Abnormality of bone mineral density
ORPHANET:3156	SDCCAG8	10806	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3156	SDCCAG8	10806	HP:0000113	Polycystic kidney dysplasia
ORPHANET:3156	SDCCAG8	10806	HP:0000505	Visual impairment
ORPHANET:3156	SDCCAG8	10806	HP:0000518	Cataract
ORPHANET:3156	SDCCAG8	10806	HP:0004322	Short stature
ORPHANET:3156	SDCCAG8	10806	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:3156	SDCCAG8	10806	HP:0010579	Cone-shaped epiphysis
ORPHANET:3156	SDCCAG8	10806	HP:0000822	Hypertension
ORPHANET:3156	SDCCAG8	10806	HP:0002311	Incoordination
ORPHANET:3156	SDCCAG8	10806	HP:0100543	Cognitive impairment
ORPHANET:3156	SDCCAG8	10806	HP:0000091	Abnormality of the renal tubule
ORPHANET:3156	NPHP3	27031	HP:0004348	Abnormality of bone mineral density
ORPHANET:3156	NPHP3	27031	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3156	NPHP3	27031	HP:0000113	Polycystic kidney dysplasia
ORPHANET:3156	NPHP3	27031	HP:0000505	Visual impairment
ORPHANET:3156	NPHP3	27031	HP:0000518	Cataract
ORPHANET:3156	NPHP3	27031	HP:0004322	Short stature
ORPHANET:3156	NPHP3	27031	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:3156	NPHP3	27031	HP:0010579	Cone-shaped epiphysis
ORPHANET:3156	NPHP3	27031	HP:0000822	Hypertension
ORPHANET:3156	NPHP3	27031	HP:0002311	Incoordination
ORPHANET:3156	NPHP3	27031	HP:0100543	Cognitive impairment
ORPHANET:3156	NPHP3	27031	HP:0000091	Abnormality of the renal tubule
ORPHANET:3156	CEP290	80184	HP:0004348	Abnormality of bone mineral density
ORPHANET:3156	CEP290	80184	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3156	CEP290	80184	HP:0000113	Polycystic kidney dysplasia
ORPHANET:3156	CEP290	80184	HP:0000505	Visual impairment
ORPHANET:3156	CEP290	80184	HP:0000518	Cataract
ORPHANET:3156	CEP290	80184	HP:0004322	Short stature
ORPHANET:3156	CEP290	80184	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:3156	CEP290	80184	HP:0010579	Cone-shaped epiphysis
ORPHANET:3156	CEP290	80184	HP:0000822	Hypertension
ORPHANET:3156	CEP290	80184	HP:0002311	Incoordination
ORPHANET:3156	CEP290	80184	HP:0100543	Cognitive impairment
ORPHANET:3156	CEP290	80184	HP:0000091	Abnormality of the renal tubule
ORPHANET:3156	IQCB1	9657	HP:0004348	Abnormality of bone mineral density
ORPHANET:3156	IQCB1	9657	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3156	IQCB1	9657	HP:0000113	Polycystic kidney dysplasia
ORPHANET:3156	IQCB1	9657	HP:0000505	Visual impairment
ORPHANET:3156	IQCB1	9657	HP:0000518	Cataract
ORPHANET:3156	IQCB1	9657	HP:0004322	Short stature
ORPHANET:3156	IQCB1	9657	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:3156	IQCB1	9657	HP:0010579	Cone-shaped epiphysis
ORPHANET:3156	IQCB1	9657	HP:0000822	Hypertension
ORPHANET:3156	IQCB1	9657	HP:0002311	Incoordination
ORPHANET:3156	IQCB1	9657	HP:0100543	Cognitive impairment
ORPHANET:3156	IQCB1	9657	HP:0000091	Abnormality of the renal tubule
ORPHANET:3156	INVS	27130	HP:0004348	Abnormality of bone mineral density
ORPHANET:3156	INVS	27130	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3156	INVS	27130	HP:0000113	Polycystic kidney dysplasia
ORPHANET:3156	INVS	27130	HP:0000505	Visual impairment
ORPHANET:3156	INVS	27130	HP:0000518	Cataract
ORPHANET:3156	INVS	27130	HP:0004322	Short stature
ORPHANET:3156	INVS	27130	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:3156	INVS	27130	HP:0010579	Cone-shaped epiphysis
ORPHANET:3156	INVS	27130	HP:0000822	Hypertension
ORPHANET:3156	INVS	27130	HP:0002311	Incoordination
ORPHANET:3156	INVS	27130	HP:0100543	Cognitive impairment
ORPHANET:3156	INVS	27130	HP:0000091	Abnormality of the renal tubule
OMIM:265120	SFTPB	6439	HP:0000007	Autosomal recessive inheritance
OMIM:265120	SFTPB	6439	HP:0002789	Tachypnea
OMIM:265120	SFTPB	6439	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:265120	SFTPB	6439	HP:0002878	Respiratory failure
OMIM:265120	SFTPB	6439	HP:0003678	Rapidly progressive
OMIM:265120	SFTPB	6439	HP:0001425	Heterogeneous
OMIM:265120	SFTPB	6439	HP:0002094	Dyspnea
OMIM:265120	SFTPB	6439	HP:0002098	Respiratory distress
OMIM:265120	SFTPB	6439	HP:0000961	Cyanosis
OMIM:265120	SFTPB	6439	HP:0001508	Failure to thrive
OMIM:265120	SFTPB	6439	HP:0001217	Clubbing
OMIM:265120	SFTPB	6439	HP:0002104	Apnea
OMIM:612269	CACNA1H	8912	HP:0000006	Autosomal dominant inheritance
OMIM:612269	CACNA1H	8912	HP:0002121	Absence seizures
OMIM:612269	SLC2A1	6513	HP:0000006	Autosomal dominant inheritance
OMIM:612269	SLC2A1	6513	HP:0002121	Absence seizures
OMIM:612269	GABRB3	2562	HP:0000006	Autosomal dominant inheritance
OMIM:612269	GABRB3	2562	HP:0002121	Absence seizures
OMIM:612269	JRK	8629	HP:0000006	Autosomal dominant inheritance
OMIM:612269	JRK	8629	HP:0002121	Absence seizures
OMIM:612269	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:612269	GABRG2	2566	HP:0002121	Absence seizures
OMIM:612269	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:612269	GABRA1	2554	HP:0002121	Absence seizures
OMIM:215518	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:215518	DNAAF2	55172	HP:0002719	Recurrent infections
OMIM:215518	DNAAF2	55172	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:215518	CCNO	10309	HP:0002719	Recurrent infections
OMIM:215518	CCNO	10309	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:215518	DNAAF5	54919	HP:0002719	Recurrent infections
OMIM:215518	DNAAF5	54919	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:215518	DNAAF3	352909	HP:0002719	Recurrent infections
OMIM:215518	DNAAF3	352909	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:215518	DNAI1	27019	HP:0002719	Recurrent infections
OMIM:215518	DNAI1	27019	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:215518	DRC1	92749	HP:0002719	Recurrent infections
OMIM:215518	DRC1	92749	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:215518	SPAG1	6674	HP:0002719	Recurrent infections
OMIM:215518	SPAG1	6674	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:215518	RSPH3	83861	HP:0002719	Recurrent infections
OMIM:215518	RSPH3	83861	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:215518	RPGR	6103	HP:0002719	Recurrent infections
OMIM:215518	RPGR	6103	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:215518	LRRC6	23639	HP:0002719	Recurrent infections
OMIM:215518	LRRC6	23639	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:215518	DNAL1	83544	HP:0002719	Recurrent infections
OMIM:215518	DNAL1	83544	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:215518	ARMC4	55130	HP:0002719	Recurrent infections
OMIM:215518	ARMC4	55130	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:215518	CCDC103	388389	HP:0002719	Recurrent infections
OMIM:215518	CCDC103	388389	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:215518	OFD1	8481	HP:0002719	Recurrent infections
OMIM:215518	OFD1	8481	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:215518	DNAAF1	123872	HP:0002719	Recurrent infections
OMIM:215518	DNAAF1	123872	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:215518	RSPH4A	345895	HP:0002719	Recurrent infections
OMIM:215518	RSPH4A	345895	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:215518	RSPH1	89765	HP:0002719	Recurrent infections
OMIM:215518	RSPH1	89765	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:215518	ZMYND10	51364	HP:0002719	Recurrent infections
OMIM:215518	ZMYND10	51364	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:215518	DNAH5	1767	HP:0002719	Recurrent infections
OMIM:215518	DNAH5	1767	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:215518	CCDC65	85478	HP:0002719	Recurrent infections
OMIM:215518	CCDC65	85478	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:215518	C21ORF59	56683	HP:0002719	Recurrent infections
OMIM:215518	C21ORF59	56683	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:215518	DYX1C1	161582	HP:0002719	Recurrent infections
OMIM:215518	DYX1C1	161582	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:215518	CCDC151	115948	HP:0002719	Recurrent infections
OMIM:215518	CCDC151	115948	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:215518	RSPH9	221421	HP:0002719	Recurrent infections
OMIM:215518	RSPH9	221421	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:215518	CCDC39	339829	HP:0002719	Recurrent infections
OMIM:215518	CCDC39	339829	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:215518	HYDIN	54768	HP:0002719	Recurrent infections
OMIM:215518	HYDIN	54768	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:215518	CCDC114	93233	HP:0002719	Recurrent infections
OMIM:215518	CCDC114	93233	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:215518	NME8	51314	HP:0002719	Recurrent infections
OMIM:215518	NME8	51314	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:215518	CCDC40	55036	HP:0002719	Recurrent infections
OMIM:215518	CCDC40	55036	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:215518	DNAH11	8701	HP:0002719	Recurrent infections
OMIM:215518	DNAH11	8701	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:215518	DNAI2	64446	HP:0002719	Recurrent infections
OMIM:215518	DNAI2	64446	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:215518	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:215518	GAS8	2622	HP:0002719	Recurrent infections
OMIM:215518	GAS8	2622	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301830	UBA1	7317	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301830	UBA1	7317	HP:0000194	Open mouth
OMIM:301830	UBA1	7317	HP:0000054	Micropenis
OMIM:301830	UBA1	7317	HP:0000470	Short neck
OMIM:301830	UBA1	7317	HP:0010628	Facial palsy
OMIM:301830	UBA1	7317	HP:0000023	Inguinal hernia
OMIM:301830	UBA1	7317	HP:0000400	Macrotia
OMIM:301830	UBA1	7317	HP:0100543	Cognitive impairment
OMIM:301830	UBA1	7317	HP:0001250	Seizures
OMIM:301830	UBA1	7317	HP:0000954	Single transverse palmar crease
OMIM:301830	UBA1	7317	HP:0002828	Multiple joint contractures
OMIM:301830	UBA1	7317	HP:0008736	Hypoplasia of penis
OMIM:301830	UBA1	7317	HP:0100490	Camptodactyly of finger
OMIM:301830	UBA1	7317	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:301830	UBA1	7317	HP:0001376	Limitation of joint mobility
OMIM:301830	UBA1	7317	HP:0003196	Short nose
OMIM:301830	UBA1	7317	HP:0000508	Ptosis
OMIM:301830	UBA1	7317	HP:0000774	Narrow chest
OMIM:301830	UBA1	7317	HP:0002650	Scoliosis
OMIM:301830	UBA1	7317	HP:0000047	Hypospadias
OMIM:301830	UBA1	7317	HP:0001308	Tongue fasciculations
OMIM:301830	UBA1	7317	HP:0000028	Cryptorchidism
OMIM:301830	UBA1	7317	HP:0001231	Abnormality of the fingernails
OMIM:301830	UBA1	7317	HP:0000486	Strabismus
OMIM:301830	UBA1	7317	HP:0001181	Adducted thumb
OMIM:301830	UBA1	7317	HP:0000343	Long philtrum
OMIM:301830	UBA1	7317	HP:0000474	Thickened nuchal skin fold
OMIM:301830	UBA1	7317	HP:0001252	Muscular hypotonia
OMIM:301830	UBA1	7317	HP:0001558	Decreased fetal movement
OMIM:301830	UBA1	7317	HP:0001288	Gait disturbance
OMIM:301830	UBA1	7317	HP:0001419	X-linked recessive inheritance
OMIM:301830	UBA1	7317	HP:0007269	Spinal muscular atrophy
OMIM:301830	UBA1	7317	HP:0002804	Arthrogryposis multiplex congenita
OMIM:301830	UBA1	7317	HP:0002808	Kyphosis
OMIM:301830	UBA1	7317	HP:0010767	Sacrococcygeal pilonidal abnormality
OMIM:301830	UBA1	7317	HP:0000347	Micrognathia
OMIM:301830	UBA1	7317	HP:0004404	Abnormality of the nipple
OMIM:301830	UBA1	7317	HP:0000268	Dolichocephaly
OMIM:301830	UBA1	7317	HP:0001284	Areflexia
OMIM:301830	UBA1	7317	HP:0002398	Degeneration of anterior horn cells
OMIM:301830	UBA1	7317	HP:0006829	Severe muscular hypotonia
OMIM:301830	UBA1	7317	HP:0003198	Myopathy
OMIM:301830	UBA1	7317	HP:0009623	Proximal placement of thumb
OMIM:256040	PSMB8	5696	HP:0000400	Macrotia
OMIM:256040	PSMB8	5696	HP:0100807	Long fingers
OMIM:256040	PSMB8	5696	HP:0004370	Abnormality of temperature regulation
OMIM:256040	PSMB8	5696	HP:0001640	Cardiomegaly
OMIM:256040	PSMB8	5696	HP:0100543	Cognitive impairment
OMIM:256040	PSMB8	5696	HP:0001090	Large eyes
OMIM:256040	PSMB8	5696	HP:0001166	Arachnodactyly
OMIM:256040	PSMB8	5696	HP:0000179	Thick lower lip vermilion
OMIM:256040	PSMB8	5696	HP:0003202	Skeletal muscle atrophy
OMIM:256040	PSMB8	5696	HP:0002155	Hypertriglyceridemia
OMIM:256040	PSMB8	5696	HP:0007256	Abnormal pyramidal signs
OMIM:256040	PSMB8	5696	HP:0011675	Arrhythmia
OMIM:256040	PSMB8	5696	HP:0001376	Limitation of joint mobility
OMIM:256040	PSMB8	5696	HP:0010702	Increased antibody level in blood
OMIM:256040	PSMB8	5696	HP:0000509	Conjunctivitis
OMIM:256040	PSMB8	5696	HP:0002910	Elevated hepatic transaminases
OMIM:256040	PSMB8	5696	HP:0009125	Lipodystrophy
OMIM:256040	PSMB8	5696	HP:0000448	Prominent nose
OMIM:256040	PSMB8	5696	HP:0000157	Abnormality of the tongue
OMIM:256040	PSMB8	5696	HP:0001324	Muscle weakness
OMIM:256040	PSMB8	5696	HP:0000975	Hyperhidrosis
OMIM:256040	PSMB8	5696	HP:0002135	Basal ganglia calcification
OMIM:256040	PSMB8	5696	HP:0002240	Hepatomegaly
OMIM:256040	PSMB8	5696	HP:0002829	Arthralgia
OMIM:256040	PSMB8	5696	HP:0100490	Camptodactyly of finger
OMIM:256040	PSMB8	5696	HP:0001744	Splenomegaly
OMIM:256040	PSMB8	5696	HP:0100774	Hyperostosis
OMIM:256040	PSMB8	5696	HP:0005105	Abnormal nasal morphology
OMIM:256040	PSMB8	5696	HP:0100578	Lipoatrophy
OMIM:256040	PSMB8	5696	HP:0001635	Congestive heart failure
OMIM:256040	PSMB8	5696	HP:0004322	Short stature
OMIM:256040	PSMB8	5696	HP:0000953	Hyperpigmentation of the skin
OMIM:256040	PSMB8	5696	HP:0000938	Osteopenia
OMIM:256040	PSMB8	5696	HP:0001508	Failure to thrive
OMIM:256040	PSMB8	5696	HP:0008887	Adipose tissue loss
OMIM:256040	PSMB8	5696	HP:0001250	Seizures
OMIM:256040	PSMB8	5696	HP:0002987	Elbow flexion contracture
OMIM:256040	PSMB8	5696	HP:0000988	Skin rash
OMIM:256040	PSMB8	5696	HP:0002804	Arthrogryposis multiplex congenita
OMIM:256040	PSMB8	5696	HP:0000007	Autosomal recessive inheritance
OMIM:256040	PSMB8	5696	HP:0100760	Clubbing of toes
OMIM:256040	PSMB8	5696	HP:0002093	Respiratory insufficiency
OMIM:256040	PSMB8	5696	HP:0001256	Intellectual disability, mild
OMIM:256040	PSMB8	5696	HP:0002716	Lymphadenopathy
OMIM:256040	PSMB8	5696	HP:0000158	Macroglossia
OMIM:256040	PSMB8	5696	HP:0002653	Bone pain
OMIM:602196	SOX9	6662	HP:0000201	Pierre-Robin sequence
OMIM:602196	SOX9	6662	HP:0000772	Abnormality of the ribs
OMIM:602196	SOX9	6662	HP:0001382	Joint hypermobility
OMIM:602196	SOX9	6662	HP:0000767	Pectus excavatum
OMIM:602196	SOX9	6662	HP:0000006	Autosomal dominant inheritance
OMIM:602196	SOX9	6662	HP:0001965	Abnormality of the scalp
OMIM:602196	SOX9	6662	HP:0000465	Webbed neck
OMIM:602196	SOX9	6662	HP:0000347	Micrognathia
OMIM:602196	SOX9	6662	HP:0000175	Cleft palate
OMIM:602196	SOX9	6662	HP:0001252	Muscular hypotonia
OMIM:216550	VPS13B	157680	HP:0001382	Joint hypermobility
OMIM:216550	VPS13B	157680	HP:0000545	Myopia
OMIM:216550	VPS13B	157680	HP:0000322	Short philtrum
OMIM:216550	VPS13B	157680	HP:0000347	Micrognathia
OMIM:216550	VPS13B	157680	HP:0001633	Abnormality of the mitral valve
OMIM:216550	VPS13B	157680	HP:0000407	Sensorineural hearing impairment
OMIM:216550	VPS13B	157680	HP:0001250	Seizures
OMIM:216550	VPS13B	157680	HP:0002857	Genu valgum
OMIM:216550	VPS13B	157680	HP:0008872	Feeding difficulties in infancy
OMIM:216550	VPS13B	157680	HP:0001518	Small for gestational age
OMIM:216550	VPS13B	157680	HP:0001634	Mitral valve prolapse
OMIM:216550	VPS13B	157680	HP:0001601	Laryngomalacia
OMIM:216550	VPS13B	157680	HP:0001182	Tapered finger
OMIM:216550	VPS13B	157680	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:216550	VPS13B	157680	HP:0000499	Abnormality of the eyelashes
OMIM:216550	VPS13B	157680	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:216550	VPS13B	157680	HP:0001319	Neonatal hypotonia
OMIM:216550	VPS13B	157680	HP:0000505	Visual impairment
OMIM:216550	VPS13B	157680	HP:0000954	Single transverse palmar crease
OMIM:216550	VPS13B	157680	HP:0100543	Cognitive impairment
OMIM:216550	VPS13B	157680	HP:0000028	Cryptorchidism
OMIM:216550	VPS13B	157680	HP:0004322	Short stature
OMIM:216550	VPS13B	157680	HP:0009804	Reduced number of teeth
OMIM:216550	VPS13B	157680	HP:0010049	Short metacarpal
OMIM:216550	VPS13B	157680	HP:0000648	Optic atrophy
OMIM:216550	VPS13B	157680	HP:0000574	Thick eyebrow
OMIM:216550	VPS13B	157680	HP:0003272	Abnormality of the hip bone
OMIM:216550	VPS13B	157680	HP:0001874	Abnormality of neutrophils
OMIM:216550	VPS13B	157680	HP:0002808	Kyphosis
OMIM:216550	VPS13B	157680	HP:0000426	Prominent nasal bridge
OMIM:216550	VPS13B	157680	HP:0001572	Macrodontia
OMIM:216550	VPS13B	157680	HP:0001763	Pes planus
OMIM:216550	VPS13B	157680	HP:0000194	Open mouth
OMIM:216550	VPS13B	157680	HP:0004209	Clinodactyly of the 5th finger
OMIM:216550	VPS13B	157680	HP:0007703	Abnormality of retinal pigmentation
OMIM:216550	VPS13B	157680	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:216550	VPS13B	157680	HP:0000294	Low anterior hairline
OMIM:216550	VPS13B	157680	HP:0001882	Leukopenia
OMIM:216550	VPS13B	157680	HP:0002967	Cubitus valgus
OMIM:216550	VPS13B	157680	HP:0002167	Neurological speech impairment
OMIM:216550	VPS13B	157680	HP:0001166	Arachnodactyly
OMIM:216550	VPS13B	157680	HP:0001252	Muscular hypotonia
OMIM:216550	VPS13B	157680	HP:0001511	Intrauterine growth retardation
OMIM:216550	VPS13B	157680	HP:0001321	Cerebellar hypoplasia
OMIM:216550	VPS13B	157680	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:216550	VPS13B	157680	HP:0000486	Strabismus
OMIM:216550	VPS13B	157680	HP:0000639	Nystagmus
OMIM:216550	VPS13B	157680	HP:0000824	Growth hormone deficiency
OMIM:216550	VPS13B	157680	HP:0001270	Motor delay
OMIM:216550	VPS13B	157680	HP:0010511	Long toe
OMIM:216550	VPS13B	157680	HP:0000612	Iris coloboma
OMIM:216550	VPS13B	157680	HP:0000532	Chorioretinal abnormality
OMIM:216550	VPS13B	157680	HP:0000444	Convex nasal ridge
OMIM:216550	VPS13B	157680	HP:0000767	Pectus excavatum
OMIM:216550	VPS13B	157680	HP:0002208	Coarse hair
OMIM:216550	VPS13B	157680	HP:0000384	Preauricular skin tag
OMIM:216550	VPS13B	157680	HP:0006101	Finger syndactyly
OMIM:216550	VPS13B	157680	HP:0000494	Downslanted palpebral fissures
OMIM:216550	VPS13B	157680	HP:0001629	Ventricular septal defect
OMIM:216550	VPS13B	157680	HP:0000252	Microcephaly
OMIM:216550	VPS13B	157680	HP:0001852	Sandal gap
OMIM:216550	VPS13B	157680	HP:0001513	Obesity
OMIM:216550	VPS13B	157680	HP:0010743	Short metatarsal
OMIM:216550	VPS13B	157680	HP:0000174	Abnormality of the palate
OMIM:216550	VPS13B	157680	HP:0000007	Autosomal recessive inheritance
OMIM:216550	VPS13B	157680	HP:0001608	Abnormality of the voice
OMIM:216550	VPS13B	157680	HP:0007663	Reduced visual acuity
OMIM:216550	VPS13B	157680	HP:0001249	Intellectual disability
OMIM:216550	VPS13B	157680	HP:0001875	Neutropenia
OMIM:216550	VPS13B	157680	HP:0002938	Lumbar hyperlordosis
OMIM:216550	VPS13B	157680	HP:0001557	Prenatal movement abnormality
OMIM:216550	VPS13B	157680	HP:0000327	Hypoplasia of the maxilla
OMIM:216550	VPS13B	157680	HP:0002943	Thoracic scoliosis
OMIM:216550	VPS13B	157680	HP:0000212	Gingival overgrowth
OMIM:147920	KMT2D	8085	HP:0001007	Hirsutism
OMIM:147920	KMT2D	8085	HP:0000535	Sparse eyebrow
OMIM:147920	KMT2D	8085	HP:0000403	Recurrent otitis media
OMIM:147920	KMT2D	8085	HP:0001680	Coarctation of aorta
OMIM:147920	KMT2D	8085	HP:0002023	Anal atresia
OMIM:147920	KMT2D	8085	HP:0000054	Micropenis
OMIM:147920	KMT2D	8085	HP:0004736	Crossed fused renal ectopia
OMIM:147920	KMT2D	8085	HP:0001252	Muscular hypotonia
OMIM:147920	KMT2D	8085	HP:0000431	Wide nasal bridge
OMIM:147920	KMT2D	8085	HP:0004322	Short stature
OMIM:147920	KMT2D	8085	HP:0001374	Congenital hip dislocation
OMIM:147920	KMT2D	8085	HP:0000592	Blue sclerae
OMIM:147920	KMT2D	8085	HP:0002553	Highly arched eyebrow
OMIM:147920	KMT2D	8085	HP:0001382	Joint hypermobility
OMIM:147920	KMT2D	8085	HP:0004467	Preauricular pit
OMIM:147920	KMT2D	8085	HP:0009237	Short 5th finger
OMIM:147920	KMT2D	8085	HP:0010314	Premature thelarche
OMIM:147920	KMT2D	8085	HP:0002025	Anal stenosis
OMIM:147920	KMT2D	8085	HP:0000508	Ptosis
OMIM:147920	KMT2D	8085	HP:0001250	Seizures
OMIM:147920	KMT2D	8085	HP:0000006	Autosomal dominant inheritance
OMIM:147920	KMT2D	8085	HP:0000486	Strabismus
OMIM:147920	KMT2D	8085	HP:0001263	Global developmental delay
OMIM:147920	KMT2D	8085	HP:0000358	Posteriorly rotated ears
OMIM:147920	KMT2D	8085	HP:0001878	Hemolytic anemia
OMIM:147920	KMT2D	8085	HP:0003468	Abnormality of the vertebrae
OMIM:147920	KMT2D	8085	HP:0000164	Abnormality of the teeth
OMIM:147920	KMT2D	8085	HP:0000218	High palate
OMIM:147920	KMT2D	8085	HP:0001249	Intellectual disability
OMIM:147920	KMT2D	8085	HP:0008872	Feeding difficulties in infancy
OMIM:147920	KMT2D	8085	HP:0002650	Scoliosis
OMIM:147920	KMT2D	8085	HP:0001629	Ventricular septal defect
OMIM:147920	KMT2D	8085	HP:0000252	Microcephaly
OMIM:147920	KMT2D	8085	HP:0000957	Cafe-au-lait spot
OMIM:147920	KMT2D	8085	HP:0000365	Hearing impairment
OMIM:147920	KMT2D	8085	HP:0008897	Postnatal growth retardation
OMIM:147920	KMT2D	8085	HP:0000175	Cleft palate
OMIM:147920	KMT2D	8085	HP:0002024	Malabsorption
OMIM:147920	KMT2D	8085	HP:0002566	Intestinal malrotation
OMIM:147920	KMT2D	8085	HP:0001631	Atria septal defect
OMIM:147920	KMT2D	8085	HP:0000028	Cryptorchidism
OMIM:147920	KMT2D	8085	HP:0000400	Macrotia
OMIM:147920	KDM6A	7403	HP:0001007	Hirsutism
OMIM:147920	KDM6A	7403	HP:0000535	Sparse eyebrow
OMIM:147920	KDM6A	7403	HP:0000403	Recurrent otitis media
OMIM:147920	KDM6A	7403	HP:0001680	Coarctation of aorta
OMIM:147920	KDM6A	7403	HP:0002023	Anal atresia
OMIM:147920	KDM6A	7403	HP:0000054	Micropenis
OMIM:147920	KDM6A	7403	HP:0004736	Crossed fused renal ectopia
OMIM:147920	KDM6A	7403	HP:0001252	Muscular hypotonia
OMIM:147920	KDM6A	7403	HP:0000431	Wide nasal bridge
OMIM:147920	KDM6A	7403	HP:0004322	Short stature
OMIM:147920	KDM6A	7403	HP:0001374	Congenital hip dislocation
OMIM:147920	KDM6A	7403	HP:0000592	Blue sclerae
OMIM:147920	KDM6A	7403	HP:0002553	Highly arched eyebrow
OMIM:147920	KDM6A	7403	HP:0001382	Joint hypermobility
OMIM:147920	KDM6A	7403	HP:0004467	Preauricular pit
OMIM:147920	KDM6A	7403	HP:0009237	Short 5th finger
OMIM:147920	KDM6A	7403	HP:0010314	Premature thelarche
OMIM:147920	KDM6A	7403	HP:0002025	Anal stenosis
OMIM:147920	KDM6A	7403	HP:0000508	Ptosis
OMIM:147920	KDM6A	7403	HP:0001250	Seizures
OMIM:147920	KDM6A	7403	HP:0000006	Autosomal dominant inheritance
OMIM:147920	KDM6A	7403	HP:0000486	Strabismus
OMIM:147920	KDM6A	7403	HP:0001263	Global developmental delay
OMIM:147920	KDM6A	7403	HP:0000358	Posteriorly rotated ears
OMIM:147920	KDM6A	7403	HP:0001878	Hemolytic anemia
OMIM:147920	KDM6A	7403	HP:0003468	Abnormality of the vertebrae
OMIM:147920	KDM6A	7403	HP:0000164	Abnormality of the teeth
OMIM:147920	KDM6A	7403	HP:0000218	High palate
OMIM:147920	KDM6A	7403	HP:0001249	Intellectual disability
OMIM:147920	KDM6A	7403	HP:0008872	Feeding difficulties in infancy
OMIM:147920	KDM6A	7403	HP:0002650	Scoliosis
OMIM:147920	KDM6A	7403	HP:0001629	Ventricular septal defect
OMIM:147920	KDM6A	7403	HP:0000252	Microcephaly
OMIM:147920	KDM6A	7403	HP:0000957	Cafe-au-lait spot
OMIM:147920	KDM6A	7403	HP:0000365	Hearing impairment
OMIM:147920	KDM6A	7403	HP:0008897	Postnatal growth retardation
OMIM:147920	KDM6A	7403	HP:0000175	Cleft palate
OMIM:147920	KDM6A	7403	HP:0002024	Malabsorption
OMIM:147920	KDM6A	7403	HP:0002566	Intestinal malrotation
OMIM:147920	KDM6A	7403	HP:0001631	Atria septal defect
OMIM:147920	KDM6A	7403	HP:0000028	Cryptorchidism
OMIM:147920	KDM6A	7403	HP:0000400	Macrotia
OMIM:102770	AMPD1	270	HP:0003710	Exercise-induced muscle cramps
OMIM:102770	AMPD1	270	HP:0001324	Muscle weakness
OMIM:102770	AMPD1	270	HP:0003198	Myopathy
OMIM:102770	AMPD1	270	HP:0001319	Neonatal hypotonia
OMIM:102770	AMPD1	270	HP:0003394	Muscle cramps
OMIM:102770	AMPD1	270	HP:0000006	Autosomal dominant inheritance
OMIM:615084	MGME1	92667	HP:0001618	Dysphonia
OMIM:615084	MGME1	92667	HP:0001644	Dilated cardiomyopathy
OMIM:615084	MGME1	92667	HP:0002018	Nausea
OMIM:615084	MGME1	92667	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615084	MGME1	92667	HP:0001321	Cerebellar hypoplasia
OMIM:615084	MGME1	92667	HP:0001249	Intellectual disability
OMIM:615084	MGME1	92667	HP:0003676	Progressive
OMIM:615084	MGME1	92667	HP:0000252	Microcephaly
OMIM:615084	MGME1	92667	HP:0001265	Hyporeflexia
OMIM:615084	MGME1	92667	HP:0003546	Exercise intolerance
OMIM:615084	MGME1	92667	HP:0001611	Nasal speech
OMIM:615084	MGME1	92667	HP:0002719	Recurrent infections
OMIM:615084	MGME1	92667	HP:0010628	Facial palsy
OMIM:615084	MGME1	92667	HP:0003306	Spinal rigidity
OMIM:615084	MGME1	92667	HP:0002014	Diarrhea
OMIM:615084	MGME1	92667	HP:0011675	Arrhythmia
OMIM:615084	MGME1	92667	HP:0000508	Ptosis
OMIM:615084	MGME1	92667	HP:0002094	Dyspnea
OMIM:615084	MGME1	92667	HP:0007126	Proximal amyotrophy
OMIM:615084	MGME1	92667	HP:0000007	Autosomal recessive inheritance
OMIM:615084	MGME1	92667	HP:0002808	Kyphosis
OMIM:124000	UQCRQ	27089	HP:0001324	Muscle weakness
OMIM:124000	UQCRQ	27089	HP:0001257	Spasticity
OMIM:124000	UQCRQ	27089	HP:0003593	Infantile onset
OMIM:124000	UQCRQ	27089	HP:0001252	Muscular hypotonia
OMIM:124000	UQCRQ	27089	HP:0001970	Tubulointerstitial nephritis
OMIM:124000	UQCRQ	27089	HP:0002353	EEG abnormality
OMIM:124000	UQCRQ	27089	HP:0001250	Seizures
OMIM:124000	UQCRQ	27089	HP:0001508	Failure to thrive
OMIM:124000	UQCRQ	27089	HP:0002910	Elevated hepatic transaminases
OMIM:124000	UQCRQ	27089	HP:0003256	Abnormality of the coagulation cascade
OMIM:124000	UQCRQ	27089	HP:0000007	Autosomal recessive inheritance
OMIM:124000	UQCRQ	27089	HP:0003355	Aminoaciduria
OMIM:124000	UQCRQ	27089	HP:0002059	Cerebral atrophy
OMIM:124000	UQCRQ	27089	HP:0004298	Abnormality of the abdominal wall
OMIM:124000	UQCRQ	27089	HP:0008872	Feeding difficulties in infancy
OMIM:124000	UQCRQ	27089	HP:0001249	Intellectual disability
OMIM:124000	UQCRQ	27089	HP:0001272	Cerebellar atrophy
OMIM:124000	UQCRQ	27089	HP:0001410	Decreased liver function
OMIM:124000	UQCRQ	27089	HP:0000518	Cataract
OMIM:124000	UQCRQ	27089	HP:0001942	Metabolic acidosis
OMIM:124000	UQCRQ	27089	HP:0002151	Increased serum lactate
OMIM:124000	UQCRQ	27089	HP:0001639	Hypertrophic cardiomyopathy
OMIM:124000	UQCRQ	27089	HP:0002299	Brittle hair
OMIM:124000	UQCRQ	27089	HP:0003201	Rhabdomyolysis
OMIM:124000	UQCRQ	27089	HP:0000738	Hallucinations
OMIM:124000	UQCRQ	27089	HP:0003546	Exercise intolerance
OMIM:124000	UQCRQ	27089	HP:0001427	Mitochondrial inheritance
OMIM:124000	UQCRQ	27089	HP:0001347	Hyperreflexia
OMIM:124000	UQCRQ	27089	HP:0000716	Depression
OMIM:124000	UQCRQ	27089	HP:0000510	Rod-cone dystrophy
OMIM:124000	UQCRQ	27089	HP:0000712	Emotional lability
OMIM:124000	UQCRQ	27089	HP:0001263	Global developmental delay
OMIM:124000	UQCRQ	27089	HP:0003128	Lactic acidosis
OMIM:124000	UQCRQ	27089	HP:0001251	Ataxia
OMIM:124000	UQCRQ	27089	HP:0000365	Hearing impairment
OMIM:124000	UQCRQ	27089	HP:0001943	Hypoglycemia
OMIM:124000	UQCRQ	27089	HP:0001396	Cholestasis
OMIM:124000	CYC1	1537	HP:0001324	Muscle weakness
OMIM:124000	CYC1	1537	HP:0001257	Spasticity
OMIM:124000	CYC1	1537	HP:0003593	Infantile onset
OMIM:124000	CYC1	1537	HP:0001252	Muscular hypotonia
OMIM:124000	CYC1	1537	HP:0001970	Tubulointerstitial nephritis
OMIM:124000	CYC1	1537	HP:0002353	EEG abnormality
OMIM:124000	CYC1	1537	HP:0001250	Seizures
OMIM:124000	CYC1	1537	HP:0001508	Failure to thrive
OMIM:124000	CYC1	1537	HP:0002910	Elevated hepatic transaminases
OMIM:124000	CYC1	1537	HP:0003256	Abnormality of the coagulation cascade
OMIM:124000	CYC1	1537	HP:0000007	Autosomal recessive inheritance
OMIM:124000	CYC1	1537	HP:0003355	Aminoaciduria
OMIM:124000	CYC1	1537	HP:0002059	Cerebral atrophy
OMIM:124000	CYC1	1537	HP:0004298	Abnormality of the abdominal wall
OMIM:124000	CYC1	1537	HP:0008872	Feeding difficulties in infancy
OMIM:124000	CYC1	1537	HP:0001249	Intellectual disability
OMIM:124000	CYC1	1537	HP:0001272	Cerebellar atrophy
OMIM:124000	CYC1	1537	HP:0001410	Decreased liver function
OMIM:124000	CYC1	1537	HP:0000518	Cataract
OMIM:124000	CYC1	1537	HP:0001942	Metabolic acidosis
OMIM:124000	CYC1	1537	HP:0002151	Increased serum lactate
OMIM:124000	CYC1	1537	HP:0001639	Hypertrophic cardiomyopathy
OMIM:124000	CYC1	1537	HP:0002299	Brittle hair
OMIM:124000	CYC1	1537	HP:0003201	Rhabdomyolysis
OMIM:124000	CYC1	1537	HP:0000738	Hallucinations
OMIM:124000	CYC1	1537	HP:0003546	Exercise intolerance
OMIM:124000	CYC1	1537	HP:0001427	Mitochondrial inheritance
OMIM:124000	CYC1	1537	HP:0001347	Hyperreflexia
OMIM:124000	CYC1	1537	HP:0000716	Depression
OMIM:124000	CYC1	1537	HP:0000510	Rod-cone dystrophy
OMIM:124000	CYC1	1537	HP:0000712	Emotional lability
OMIM:124000	CYC1	1537	HP:0001263	Global developmental delay
OMIM:124000	CYC1	1537	HP:0003128	Lactic acidosis
OMIM:124000	CYC1	1537	HP:0001251	Ataxia
OMIM:124000	CYC1	1537	HP:0000365	Hearing impairment
OMIM:124000	CYC1	1537	HP:0001943	Hypoglycemia
OMIM:124000	CYC1	1537	HP:0001396	Cholestasis
OMIM:124000	LYRM7	90624	HP:0001324	Muscle weakness
OMIM:124000	LYRM7	90624	HP:0001257	Spasticity
OMIM:124000	LYRM7	90624	HP:0003593	Infantile onset
OMIM:124000	LYRM7	90624	HP:0001252	Muscular hypotonia
OMIM:124000	LYRM7	90624	HP:0001970	Tubulointerstitial nephritis
OMIM:124000	LYRM7	90624	HP:0002353	EEG abnormality
OMIM:124000	LYRM7	90624	HP:0001250	Seizures
OMIM:124000	LYRM7	90624	HP:0001508	Failure to thrive
OMIM:124000	LYRM7	90624	HP:0002910	Elevated hepatic transaminases
OMIM:124000	LYRM7	90624	HP:0003256	Abnormality of the coagulation cascade
OMIM:124000	LYRM7	90624	HP:0000007	Autosomal recessive inheritance
OMIM:124000	LYRM7	90624	HP:0003355	Aminoaciduria
OMIM:124000	LYRM7	90624	HP:0002059	Cerebral atrophy
OMIM:124000	LYRM7	90624	HP:0004298	Abnormality of the abdominal wall
OMIM:124000	LYRM7	90624	HP:0008872	Feeding difficulties in infancy
OMIM:124000	LYRM7	90624	HP:0001249	Intellectual disability
OMIM:124000	LYRM7	90624	HP:0001272	Cerebellar atrophy
OMIM:124000	LYRM7	90624	HP:0001410	Decreased liver function
OMIM:124000	LYRM7	90624	HP:0000518	Cataract
OMIM:124000	LYRM7	90624	HP:0001942	Metabolic acidosis
OMIM:124000	LYRM7	90624	HP:0002151	Increased serum lactate
OMIM:124000	LYRM7	90624	HP:0001639	Hypertrophic cardiomyopathy
OMIM:124000	LYRM7	90624	HP:0002299	Brittle hair
OMIM:124000	LYRM7	90624	HP:0003201	Rhabdomyolysis
OMIM:124000	LYRM7	90624	HP:0000738	Hallucinations
OMIM:124000	LYRM7	90624	HP:0003546	Exercise intolerance
OMIM:124000	LYRM7	90624	HP:0001427	Mitochondrial inheritance
OMIM:124000	LYRM7	90624	HP:0001347	Hyperreflexia
OMIM:124000	LYRM7	90624	HP:0000716	Depression
OMIM:124000	LYRM7	90624	HP:0000510	Rod-cone dystrophy
OMIM:124000	LYRM7	90624	HP:0000712	Emotional lability
OMIM:124000	LYRM7	90624	HP:0001263	Global developmental delay
OMIM:124000	LYRM7	90624	HP:0003128	Lactic acidosis
OMIM:124000	LYRM7	90624	HP:0001251	Ataxia
OMIM:124000	LYRM7	90624	HP:0000365	Hearing impairment
OMIM:124000	LYRM7	90624	HP:0001943	Hypoglycemia
OMIM:124000	LYRM7	90624	HP:0001396	Cholestasis
OMIM:124000	UQCRB	7381	HP:0001324	Muscle weakness
OMIM:124000	UQCRB	7381	HP:0001257	Spasticity
OMIM:124000	UQCRB	7381	HP:0003593	Infantile onset
OMIM:124000	UQCRB	7381	HP:0001252	Muscular hypotonia
OMIM:124000	UQCRB	7381	HP:0001970	Tubulointerstitial nephritis
OMIM:124000	UQCRB	7381	HP:0002353	EEG abnormality
OMIM:124000	UQCRB	7381	HP:0001250	Seizures
OMIM:124000	UQCRB	7381	HP:0001508	Failure to thrive
OMIM:124000	UQCRB	7381	HP:0002910	Elevated hepatic transaminases
OMIM:124000	UQCRB	7381	HP:0003256	Abnormality of the coagulation cascade
OMIM:124000	UQCRB	7381	HP:0000007	Autosomal recessive inheritance
OMIM:124000	UQCRB	7381	HP:0003355	Aminoaciduria
OMIM:124000	UQCRB	7381	HP:0002059	Cerebral atrophy
OMIM:124000	UQCRB	7381	HP:0004298	Abnormality of the abdominal wall
OMIM:124000	UQCRB	7381	HP:0008872	Feeding difficulties in infancy
OMIM:124000	UQCRB	7381	HP:0001249	Intellectual disability
OMIM:124000	UQCRB	7381	HP:0001272	Cerebellar atrophy
OMIM:124000	UQCRB	7381	HP:0001410	Decreased liver function
OMIM:124000	UQCRB	7381	HP:0000518	Cataract
OMIM:124000	UQCRB	7381	HP:0001942	Metabolic acidosis
OMIM:124000	UQCRB	7381	HP:0002151	Increased serum lactate
OMIM:124000	UQCRB	7381	HP:0001639	Hypertrophic cardiomyopathy
OMIM:124000	UQCRB	7381	HP:0002299	Brittle hair
OMIM:124000	UQCRB	7381	HP:0003201	Rhabdomyolysis
OMIM:124000	UQCRB	7381	HP:0000738	Hallucinations
OMIM:124000	UQCRB	7381	HP:0003546	Exercise intolerance
OMIM:124000	UQCRB	7381	HP:0001427	Mitochondrial inheritance
OMIM:124000	UQCRB	7381	HP:0001347	Hyperreflexia
OMIM:124000	UQCRB	7381	HP:0000716	Depression
OMIM:124000	UQCRB	7381	HP:0000510	Rod-cone dystrophy
OMIM:124000	UQCRB	7381	HP:0000712	Emotional lability
OMIM:124000	UQCRB	7381	HP:0001263	Global developmental delay
OMIM:124000	UQCRB	7381	HP:0003128	Lactic acidosis
OMIM:124000	UQCRB	7381	HP:0001251	Ataxia
OMIM:124000	UQCRB	7381	HP:0000365	Hearing impairment
OMIM:124000	UQCRB	7381	HP:0001943	Hypoglycemia
OMIM:124000	UQCRB	7381	HP:0001396	Cholestasis
OMIM:124000	TTC19	54902	HP:0001324	Muscle weakness
OMIM:124000	TTC19	54902	HP:0001257	Spasticity
OMIM:124000	TTC19	54902	HP:0003593	Infantile onset
OMIM:124000	TTC19	54902	HP:0001252	Muscular hypotonia
OMIM:124000	TTC19	54902	HP:0001970	Tubulointerstitial nephritis
OMIM:124000	TTC19	54902	HP:0002353	EEG abnormality
OMIM:124000	TTC19	54902	HP:0001250	Seizures
OMIM:124000	TTC19	54902	HP:0001508	Failure to thrive
OMIM:124000	TTC19	54902	HP:0002910	Elevated hepatic transaminases
OMIM:124000	TTC19	54902	HP:0003256	Abnormality of the coagulation cascade
OMIM:124000	TTC19	54902	HP:0000007	Autosomal recessive inheritance
OMIM:124000	TTC19	54902	HP:0003355	Aminoaciduria
OMIM:124000	TTC19	54902	HP:0002059	Cerebral atrophy
OMIM:124000	TTC19	54902	HP:0004298	Abnormality of the abdominal wall
OMIM:124000	TTC19	54902	HP:0008872	Feeding difficulties in infancy
OMIM:124000	TTC19	54902	HP:0001249	Intellectual disability
OMIM:124000	TTC19	54902	HP:0001272	Cerebellar atrophy
OMIM:124000	TTC19	54902	HP:0001410	Decreased liver function
OMIM:124000	TTC19	54902	HP:0000518	Cataract
OMIM:124000	TTC19	54902	HP:0001942	Metabolic acidosis
OMIM:124000	TTC19	54902	HP:0002151	Increased serum lactate
OMIM:124000	TTC19	54902	HP:0001639	Hypertrophic cardiomyopathy
OMIM:124000	TTC19	54902	HP:0002299	Brittle hair
OMIM:124000	TTC19	54902	HP:0003201	Rhabdomyolysis
OMIM:124000	TTC19	54902	HP:0000738	Hallucinations
OMIM:124000	TTC19	54902	HP:0003546	Exercise intolerance
OMIM:124000	TTC19	54902	HP:0001427	Mitochondrial inheritance
OMIM:124000	TTC19	54902	HP:0001347	Hyperreflexia
OMIM:124000	TTC19	54902	HP:0000716	Depression
OMIM:124000	TTC19	54902	HP:0000510	Rod-cone dystrophy
OMIM:124000	TTC19	54902	HP:0000712	Emotional lability
OMIM:124000	TTC19	54902	HP:0001263	Global developmental delay
OMIM:124000	TTC19	54902	HP:0003128	Lactic acidosis
OMIM:124000	TTC19	54902	HP:0001251	Ataxia
OMIM:124000	TTC19	54902	HP:0000365	Hearing impairment
OMIM:124000	TTC19	54902	HP:0001943	Hypoglycemia
OMIM:124000	TTC19	54902	HP:0001396	Cholestasis
OMIM:124000	CYTB	4519	HP:0001324	Muscle weakness
OMIM:124000	CYTB	4519	HP:0001257	Spasticity
OMIM:124000	CYTB	4519	HP:0003593	Infantile onset
OMIM:124000	CYTB	4519	HP:0001252	Muscular hypotonia
OMIM:124000	CYTB	4519	HP:0001970	Tubulointerstitial nephritis
OMIM:124000	CYTB	4519	HP:0002353	EEG abnormality
OMIM:124000	CYTB	4519	HP:0001250	Seizures
OMIM:124000	CYTB	4519	HP:0001508	Failure to thrive
OMIM:124000	CYTB	4519	HP:0002910	Elevated hepatic transaminases
OMIM:124000	CYTB	4519	HP:0003256	Abnormality of the coagulation cascade
OMIM:124000	CYTB	4519	HP:0000007	Autosomal recessive inheritance
OMIM:124000	CYTB	4519	HP:0003355	Aminoaciduria
OMIM:124000	CYTB	4519	HP:0002059	Cerebral atrophy
OMIM:124000	CYTB	4519	HP:0004298	Abnormality of the abdominal wall
OMIM:124000	CYTB	4519	HP:0008872	Feeding difficulties in infancy
OMIM:124000	CYTB	4519	HP:0001249	Intellectual disability
OMIM:124000	CYTB	4519	HP:0001272	Cerebellar atrophy
OMIM:124000	CYTB	4519	HP:0001410	Decreased liver function
OMIM:124000	CYTB	4519	HP:0000518	Cataract
OMIM:124000	CYTB	4519	HP:0001942	Metabolic acidosis
OMIM:124000	CYTB	4519	HP:0002151	Increased serum lactate
OMIM:124000	CYTB	4519	HP:0001639	Hypertrophic cardiomyopathy
OMIM:124000	CYTB	4519	HP:0002299	Brittle hair
OMIM:124000	CYTB	4519	HP:0003201	Rhabdomyolysis
OMIM:124000	CYTB	4519	HP:0000738	Hallucinations
OMIM:124000	CYTB	4519	HP:0003546	Exercise intolerance
OMIM:124000	CYTB	4519	HP:0001427	Mitochondrial inheritance
OMIM:124000	CYTB	4519	HP:0001347	Hyperreflexia
OMIM:124000	CYTB	4519	HP:0000716	Depression
OMIM:124000	CYTB	4519	HP:0000510	Rod-cone dystrophy
OMIM:124000	CYTB	4519	HP:0000712	Emotional lability
OMIM:124000	CYTB	4519	HP:0001263	Global developmental delay
OMIM:124000	CYTB	4519	HP:0003128	Lactic acidosis
OMIM:124000	CYTB	4519	HP:0001251	Ataxia
OMIM:124000	CYTB	4519	HP:0000365	Hearing impairment
OMIM:124000	CYTB	4519	HP:0001943	Hypoglycemia
OMIM:124000	CYTB	4519	HP:0001396	Cholestasis
OMIM:124000	UQCC3	790955	HP:0001324	Muscle weakness
OMIM:124000	UQCC3	790955	HP:0001257	Spasticity
OMIM:124000	UQCC3	790955	HP:0003593	Infantile onset
OMIM:124000	UQCC3	790955	HP:0001252	Muscular hypotonia
OMIM:124000	UQCC3	790955	HP:0001970	Tubulointerstitial nephritis
OMIM:124000	UQCC3	790955	HP:0002353	EEG abnormality
OMIM:124000	UQCC3	790955	HP:0001250	Seizures
OMIM:124000	UQCC3	790955	HP:0001508	Failure to thrive
OMIM:124000	UQCC3	790955	HP:0002910	Elevated hepatic transaminases
OMIM:124000	UQCC3	790955	HP:0003256	Abnormality of the coagulation cascade
OMIM:124000	UQCC3	790955	HP:0000007	Autosomal recessive inheritance
OMIM:124000	UQCC3	790955	HP:0003355	Aminoaciduria
OMIM:124000	UQCC3	790955	HP:0002059	Cerebral atrophy
OMIM:124000	UQCC3	790955	HP:0004298	Abnormality of the abdominal wall
OMIM:124000	UQCC3	790955	HP:0008872	Feeding difficulties in infancy
OMIM:124000	UQCC3	790955	HP:0001249	Intellectual disability
OMIM:124000	UQCC3	790955	HP:0001272	Cerebellar atrophy
OMIM:124000	UQCC3	790955	HP:0001410	Decreased liver function
OMIM:124000	UQCC3	790955	HP:0000518	Cataract
OMIM:124000	UQCC3	790955	HP:0001942	Metabolic acidosis
OMIM:124000	UQCC3	790955	HP:0002151	Increased serum lactate
OMIM:124000	UQCC3	790955	HP:0001639	Hypertrophic cardiomyopathy
OMIM:124000	UQCC3	790955	HP:0002299	Brittle hair
OMIM:124000	UQCC3	790955	HP:0003201	Rhabdomyolysis
OMIM:124000	UQCC3	790955	HP:0000738	Hallucinations
OMIM:124000	UQCC3	790955	HP:0003546	Exercise intolerance
OMIM:124000	UQCC3	790955	HP:0001427	Mitochondrial inheritance
OMIM:124000	UQCC3	790955	HP:0001347	Hyperreflexia
OMIM:124000	UQCC3	790955	HP:0000716	Depression
OMIM:124000	UQCC3	790955	HP:0000510	Rod-cone dystrophy
OMIM:124000	UQCC3	790955	HP:0000712	Emotional lability
OMIM:124000	UQCC3	790955	HP:0001263	Global developmental delay
OMIM:124000	UQCC3	790955	HP:0003128	Lactic acidosis
OMIM:124000	UQCC3	790955	HP:0001251	Ataxia
OMIM:124000	UQCC3	790955	HP:0000365	Hearing impairment
OMIM:124000	UQCC3	790955	HP:0001943	Hypoglycemia
OMIM:124000	UQCC3	790955	HP:0001396	Cholestasis
OMIM:124000	BCS1L	617	HP:0001324	Muscle weakness
OMIM:124000	BCS1L	617	HP:0001257	Spasticity
OMIM:124000	BCS1L	617	HP:0003593	Infantile onset
OMIM:124000	BCS1L	617	HP:0001252	Muscular hypotonia
OMIM:124000	BCS1L	617	HP:0001970	Tubulointerstitial nephritis
OMIM:124000	BCS1L	617	HP:0002353	EEG abnormality
OMIM:124000	BCS1L	617	HP:0001250	Seizures
OMIM:124000	BCS1L	617	HP:0001508	Failure to thrive
OMIM:124000	BCS1L	617	HP:0002910	Elevated hepatic transaminases
OMIM:124000	BCS1L	617	HP:0003256	Abnormality of the coagulation cascade
OMIM:124000	BCS1L	617	HP:0000007	Autosomal recessive inheritance
OMIM:124000	BCS1L	617	HP:0003355	Aminoaciduria
OMIM:124000	BCS1L	617	HP:0002059	Cerebral atrophy
OMIM:124000	BCS1L	617	HP:0004298	Abnormality of the abdominal wall
OMIM:124000	BCS1L	617	HP:0008872	Feeding difficulties in infancy
OMIM:124000	BCS1L	617	HP:0001249	Intellectual disability
OMIM:124000	BCS1L	617	HP:0001272	Cerebellar atrophy
OMIM:124000	BCS1L	617	HP:0001410	Decreased liver function
OMIM:124000	BCS1L	617	HP:0000518	Cataract
OMIM:124000	BCS1L	617	HP:0001942	Metabolic acidosis
OMIM:124000	BCS1L	617	HP:0002151	Increased serum lactate
OMIM:124000	BCS1L	617	HP:0001639	Hypertrophic cardiomyopathy
OMIM:124000	BCS1L	617	HP:0002299	Brittle hair
OMIM:124000	BCS1L	617	HP:0003201	Rhabdomyolysis
OMIM:124000	BCS1L	617	HP:0000738	Hallucinations
OMIM:124000	BCS1L	617	HP:0003546	Exercise intolerance
OMIM:124000	BCS1L	617	HP:0001427	Mitochondrial inheritance
OMIM:124000	BCS1L	617	HP:0001347	Hyperreflexia
OMIM:124000	BCS1L	617	HP:0000716	Depression
OMIM:124000	BCS1L	617	HP:0000510	Rod-cone dystrophy
OMIM:124000	BCS1L	617	HP:0000712	Emotional lability
OMIM:124000	BCS1L	617	HP:0001263	Global developmental delay
OMIM:124000	BCS1L	617	HP:0003128	Lactic acidosis
OMIM:124000	BCS1L	617	HP:0001251	Ataxia
OMIM:124000	BCS1L	617	HP:0000365	Hearing impairment
OMIM:124000	BCS1L	617	HP:0001943	Hypoglycemia
OMIM:124000	BCS1L	617	HP:0001396	Cholestasis
OMIM:124000	UQCRC2	7385	HP:0001324	Muscle weakness
OMIM:124000	UQCRC2	7385	HP:0001257	Spasticity
OMIM:124000	UQCRC2	7385	HP:0003593	Infantile onset
OMIM:124000	UQCRC2	7385	HP:0001252	Muscular hypotonia
OMIM:124000	UQCRC2	7385	HP:0001970	Tubulointerstitial nephritis
OMIM:124000	UQCRC2	7385	HP:0002353	EEG abnormality
OMIM:124000	UQCRC2	7385	HP:0001250	Seizures
OMIM:124000	UQCRC2	7385	HP:0001508	Failure to thrive
OMIM:124000	UQCRC2	7385	HP:0002910	Elevated hepatic transaminases
OMIM:124000	UQCRC2	7385	HP:0003256	Abnormality of the coagulation cascade
OMIM:124000	UQCRC2	7385	HP:0000007	Autosomal recessive inheritance
OMIM:124000	UQCRC2	7385	HP:0003355	Aminoaciduria
OMIM:124000	UQCRC2	7385	HP:0002059	Cerebral atrophy
OMIM:124000	UQCRC2	7385	HP:0004298	Abnormality of the abdominal wall
OMIM:124000	UQCRC2	7385	HP:0008872	Feeding difficulties in infancy
OMIM:124000	UQCRC2	7385	HP:0001249	Intellectual disability
OMIM:124000	UQCRC2	7385	HP:0001272	Cerebellar atrophy
OMIM:124000	UQCRC2	7385	HP:0001410	Decreased liver function
OMIM:124000	UQCRC2	7385	HP:0000518	Cataract
OMIM:124000	UQCRC2	7385	HP:0001942	Metabolic acidosis
OMIM:124000	UQCRC2	7385	HP:0002151	Increased serum lactate
OMIM:124000	UQCRC2	7385	HP:0001639	Hypertrophic cardiomyopathy
OMIM:124000	UQCRC2	7385	HP:0002299	Brittle hair
OMIM:124000	UQCRC2	7385	HP:0003201	Rhabdomyolysis
OMIM:124000	UQCRC2	7385	HP:0000738	Hallucinations
OMIM:124000	UQCRC2	7385	HP:0003546	Exercise intolerance
OMIM:124000	UQCRC2	7385	HP:0001427	Mitochondrial inheritance
OMIM:124000	UQCRC2	7385	HP:0001347	Hyperreflexia
OMIM:124000	UQCRC2	7385	HP:0000716	Depression
OMIM:124000	UQCRC2	7385	HP:0000510	Rod-cone dystrophy
OMIM:124000	UQCRC2	7385	HP:0000712	Emotional lability
OMIM:124000	UQCRC2	7385	HP:0001263	Global developmental delay
OMIM:124000	UQCRC2	7385	HP:0003128	Lactic acidosis
OMIM:124000	UQCRC2	7385	HP:0001251	Ataxia
OMIM:124000	UQCRC2	7385	HP:0000365	Hearing impairment
OMIM:124000	UQCRC2	7385	HP:0001943	Hypoglycemia
OMIM:124000	UQCRC2	7385	HP:0001396	Cholestasis
OMIM:124000	UQCC2	84300	HP:0001324	Muscle weakness
OMIM:124000	UQCC2	84300	HP:0001257	Spasticity
OMIM:124000	UQCC2	84300	HP:0003593	Infantile onset
OMIM:124000	UQCC2	84300	HP:0001252	Muscular hypotonia
OMIM:124000	UQCC2	84300	HP:0001970	Tubulointerstitial nephritis
OMIM:124000	UQCC2	84300	HP:0002353	EEG abnormality
OMIM:124000	UQCC2	84300	HP:0001250	Seizures
OMIM:124000	UQCC2	84300	HP:0001508	Failure to thrive
OMIM:124000	UQCC2	84300	HP:0002910	Elevated hepatic transaminases
OMIM:124000	UQCC2	84300	HP:0003256	Abnormality of the coagulation cascade
OMIM:124000	UQCC2	84300	HP:0000007	Autosomal recessive inheritance
OMIM:124000	UQCC2	84300	HP:0003355	Aminoaciduria
OMIM:124000	UQCC2	84300	HP:0002059	Cerebral atrophy
OMIM:124000	UQCC2	84300	HP:0004298	Abnormality of the abdominal wall
OMIM:124000	UQCC2	84300	HP:0008872	Feeding difficulties in infancy
OMIM:124000	UQCC2	84300	HP:0001249	Intellectual disability
OMIM:124000	UQCC2	84300	HP:0001272	Cerebellar atrophy
OMIM:124000	UQCC2	84300	HP:0001410	Decreased liver function
OMIM:124000	UQCC2	84300	HP:0000518	Cataract
OMIM:124000	UQCC2	84300	HP:0001942	Metabolic acidosis
OMIM:124000	UQCC2	84300	HP:0002151	Increased serum lactate
OMIM:124000	UQCC2	84300	HP:0001639	Hypertrophic cardiomyopathy
OMIM:124000	UQCC2	84300	HP:0002299	Brittle hair
OMIM:124000	UQCC2	84300	HP:0003201	Rhabdomyolysis
OMIM:124000	UQCC2	84300	HP:0000738	Hallucinations
OMIM:124000	UQCC2	84300	HP:0003546	Exercise intolerance
OMIM:124000	UQCC2	84300	HP:0001427	Mitochondrial inheritance
OMIM:124000	UQCC2	84300	HP:0001347	Hyperreflexia
OMIM:124000	UQCC2	84300	HP:0000716	Depression
OMIM:124000	UQCC2	84300	HP:0000510	Rod-cone dystrophy
OMIM:124000	UQCC2	84300	HP:0000712	Emotional lability
OMIM:124000	UQCC2	84300	HP:0001263	Global developmental delay
OMIM:124000	UQCC2	84300	HP:0003128	Lactic acidosis
OMIM:124000	UQCC2	84300	HP:0001251	Ataxia
OMIM:124000	UQCC2	84300	HP:0000365	Hearing impairment
OMIM:124000	UQCC2	84300	HP:0001943	Hypoglycemia
OMIM:124000	UQCC2	84300	HP:0001396	Cholestasis
OMIM:191100	TSC1	7248	HP:0000957	Cafe-au-lait spot
OMIM:191100	TSC1	7248	HP:0002514	Cerebral calcification
OMIM:191100	TSC1	7248	HP:0000006	Autosomal dominant inheritance
OMIM:191100	TSC1	7248	HP:0001482	Subcutaneous nodule
OMIM:191100	TSC1	7248	HP:0001328	Specific learning disability
OMIM:191100	TSC1	7248	HP:0200024	Premature chromatid separation
OMIM:191100	TSC1	7248	HP:0000826	Precocious puberty
OMIM:191100	TSC1	7248	HP:0003812	Phenotypic variability
OMIM:191100	TSC1	7248	HP:0009592	Astrocytoma
OMIM:191100	TSC1	7248	HP:0007018	Attention deficit hyperactivity disorder
OMIM:191100	TSC1	7248	HP:0000821	Hypothyroidism
OMIM:191100	TSC1	7248	HP:0000169	Gingival fibromatosis
OMIM:191100	TSC1	7248	HP:0001249	Intellectual disability
OMIM:191100	TSC1	7248	HP:0002086	Abnormality of the respiratory system
OMIM:191100	TSC1	7248	HP:0002888	Ependymoma
OMIM:191100	TSC1	7248	HP:0000717	Autism
OMIM:191100	TSC1	7248	HP:0000107	Renal cyst
OMIM:191100	TSC2	7249	HP:0000957	Cafe-au-lait spot
OMIM:191100	TSC2	7249	HP:0002514	Cerebral calcification
OMIM:191100	TSC2	7249	HP:0000006	Autosomal dominant inheritance
OMIM:191100	TSC2	7249	HP:0001482	Subcutaneous nodule
OMIM:191100	TSC2	7249	HP:0001328	Specific learning disability
OMIM:191100	TSC2	7249	HP:0200024	Premature chromatid separation
OMIM:191100	TSC2	7249	HP:0000826	Precocious puberty
OMIM:191100	TSC2	7249	HP:0003812	Phenotypic variability
OMIM:191100	TSC2	7249	HP:0009592	Astrocytoma
OMIM:191100	TSC2	7249	HP:0007018	Attention deficit hyperactivity disorder
OMIM:191100	TSC2	7249	HP:0000821	Hypothyroidism
OMIM:191100	TSC2	7249	HP:0000169	Gingival fibromatosis
OMIM:191100	TSC2	7249	HP:0001249	Intellectual disability
OMIM:191100	TSC2	7249	HP:0002086	Abnormality of the respiratory system
OMIM:191100	TSC2	7249	HP:0002888	Ependymoma
OMIM:191100	TSC2	7249	HP:0000717	Autism
OMIM:191100	TSC2	7249	HP:0000107	Renal cyst
ORPHANET:773	PHYH	5264	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:773	PHYH	5264	HP:0002652	Skeletal dysplasia
ORPHANET:773	PHYH	5264	HP:0100543	Cognitive impairment
ORPHANET:773	PHYH	5264	HP:0000488	Retinopathy
ORPHANET:773	PHYH	5264	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:773	PHYH	5264	HP:0000407	Sensorineural hearing impairment
ORPHANET:773	PHYH	5264	HP:0000639	Nystagmus
ORPHANET:773	PHYH	5264	HP:0001252	Muscular hypotonia
ORPHANET:773	PHYH	5264	HP:0011675	Arrhythmia
ORPHANET:773	PHYH	5264	HP:0002311	Incoordination
ORPHANET:773	PHYH	5264	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:773	PHYH	5264	HP:0001761	Pes cavus
ORPHANET:773	PHYH	5264	HP:0001744	Splenomegaly
ORPHANET:773	PHYH	5264	HP:0000958	Dry skin
ORPHANET:773	PHYH	5264	HP:0000508	Ptosis
ORPHANET:773	PHYH	5264	HP:0007256	Abnormal pyramidal signs
ORPHANET:773	PHYH	5264	HP:0009830	Peripheral neuropathy
ORPHANET:773	PHYH	5264	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:773	PHYH	5264	HP:0000518	Cataract
ORPHANET:773	PHYH	5264	HP:0002167	Neurological speech impairment
ORPHANET:773	PHYH	5264	HP:0003202	Skeletal muscle atrophy
ORPHANET:773	PHYH	5264	HP:0000615	Abnormality of the pupil
ORPHANET:773	PHYH	5264	HP:0002093	Respiratory insufficiency
ORPHANET:773	PHYH	5264	HP:0002376	Developmental regression
ORPHANET:773	PHYH	5264	HP:0008064	Ichthyosis
ORPHANET:773	PHYH	5264	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:773	PHYH	5264	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:773	PHYH	5264	HP:0000083	Renal insufficiency
ORPHANET:773	PHYH	5264	HP:0000505	Visual impairment
ORPHANET:773	PHYH	5264	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:773	PHYH	5264	HP:0004408	Abnormality of the sense of smell
ORPHANET:773	PEX7	5191	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:773	PEX7	5191	HP:0002652	Skeletal dysplasia
ORPHANET:773	PEX7	5191	HP:0100543	Cognitive impairment
ORPHANET:773	PEX7	5191	HP:0000488	Retinopathy
ORPHANET:773	PEX7	5191	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:773	PEX7	5191	HP:0000407	Sensorineural hearing impairment
ORPHANET:773	PEX7	5191	HP:0000639	Nystagmus
ORPHANET:773	PEX7	5191	HP:0001252	Muscular hypotonia
ORPHANET:773	PEX7	5191	HP:0011675	Arrhythmia
ORPHANET:773	PEX7	5191	HP:0002311	Incoordination
ORPHANET:773	PEX7	5191	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:773	PEX7	5191	HP:0001761	Pes cavus
ORPHANET:773	PEX7	5191	HP:0001744	Splenomegaly
ORPHANET:773	PEX7	5191	HP:0000958	Dry skin
ORPHANET:773	PEX7	5191	HP:0000508	Ptosis
ORPHANET:773	PEX7	5191	HP:0007256	Abnormal pyramidal signs
ORPHANET:773	PEX7	5191	HP:0009830	Peripheral neuropathy
ORPHANET:773	PEX7	5191	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:773	PEX7	5191	HP:0000518	Cataract
ORPHANET:773	PEX7	5191	HP:0002167	Neurological speech impairment
ORPHANET:773	PEX7	5191	HP:0003202	Skeletal muscle atrophy
ORPHANET:773	PEX7	5191	HP:0000615	Abnormality of the pupil
ORPHANET:773	PEX7	5191	HP:0002093	Respiratory insufficiency
ORPHANET:773	PEX7	5191	HP:0002376	Developmental regression
ORPHANET:773	PEX7	5191	HP:0008064	Ichthyosis
ORPHANET:773	PEX7	5191	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:773	PEX7	5191	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:773	PEX7	5191	HP:0000083	Renal insufficiency
ORPHANET:773	PEX7	5191	HP:0000505	Visual impairment
ORPHANET:773	PEX7	5191	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:773	PEX7	5191	HP:0004408	Abnormality of the sense of smell
OMIM:190440	FGFR1	2260	HP:0000243	Trigonocephaly
OMIM:190440	FGFR1	2260	HP:0001363	Craniosynostosis
OMIM:190440	FGFR1	2260	HP:0000252	Microcephaly
OMIM:190440	FGFR1	2260	HP:0001539	Omphalocele
OMIM:190440	FGFR1	2260	HP:0000040	Long penis
OMIM:190440	FGFR1	2260	HP:0002245	Meckel diverticulum
OMIM:190440	FGFR1	2260	HP:0000601	Hypotelorism
OMIM:190440	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:190440	FGFR1	2260	HP:0000384	Preauricular skin tag
OMIM:190440	FGFR1	2260	HP:0000664	Synophrys
OMIM:190440	FREM1	158326	HP:0000243	Trigonocephaly
OMIM:190440	FREM1	158326	HP:0001363	Craniosynostosis
OMIM:190440	FREM1	158326	HP:0000252	Microcephaly
OMIM:190440	FREM1	158326	HP:0001539	Omphalocele
OMIM:190440	FREM1	158326	HP:0000040	Long penis
OMIM:190440	FREM1	158326	HP:0002245	Meckel diverticulum
OMIM:190440	FREM1	158326	HP:0000601	Hypotelorism
OMIM:190440	FREM1	158326	HP:0000006	Autosomal dominant inheritance
OMIM:190440	FREM1	158326	HP:0000384	Preauricular skin tag
OMIM:190440	FREM1	158326	HP:0000664	Synophrys
OMIM:615444	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:615444	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:615444	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:615444	DNAAF2	55172	HP:0000789	Infertility
OMIM:615444	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:615444	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:615444	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:615444	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:615444	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:615444	CCNO	10309	HP:0000789	Infertility
OMIM:615444	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:615444	CCNO	10309	HP:0000246	Sinusitis
OMIM:615444	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:615444	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:615444	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:615444	DNAAF5	54919	HP:0000789	Infertility
OMIM:615444	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:615444	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:615444	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:615444	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:615444	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:615444	DNAAF3	352909	HP:0000789	Infertility
OMIM:615444	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:615444	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:615444	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:615444	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:615444	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:615444	DNAI1	27019	HP:0000789	Infertility
OMIM:615444	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:615444	DNAI1	27019	HP:0000246	Sinusitis
OMIM:615444	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:615444	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:615444	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:615444	DRC1	92749	HP:0000789	Infertility
OMIM:615444	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:615444	DRC1	92749	HP:0000246	Sinusitis
OMIM:615444	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:615444	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:615444	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:615444	SPAG1	6674	HP:0000789	Infertility
OMIM:615444	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:615444	SPAG1	6674	HP:0000246	Sinusitis
OMIM:615444	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:615444	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:615444	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:615444	RSPH3	83861	HP:0000789	Infertility
OMIM:615444	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:615444	RSPH3	83861	HP:0000246	Sinusitis
OMIM:615444	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:615444	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615444	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:615444	RPGR	6103	HP:0000789	Infertility
OMIM:615444	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:615444	RPGR	6103	HP:0000246	Sinusitis
OMIM:615444	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:615444	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:615444	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:615444	LRRC6	23639	HP:0000789	Infertility
OMIM:615444	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:615444	LRRC6	23639	HP:0000246	Sinusitis
OMIM:615444	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:615444	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:615444	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:615444	DNAL1	83544	HP:0000789	Infertility
OMIM:615444	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:615444	DNAL1	83544	HP:0000246	Sinusitis
OMIM:615444	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:615444	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:615444	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:615444	ARMC4	55130	HP:0000789	Infertility
OMIM:615444	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:615444	ARMC4	55130	HP:0000246	Sinusitis
OMIM:615444	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:615444	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:615444	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:615444	CCDC103	388389	HP:0000789	Infertility
OMIM:615444	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:615444	CCDC103	388389	HP:0000246	Sinusitis
OMIM:615444	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:615444	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615444	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:615444	OFD1	8481	HP:0000789	Infertility
OMIM:615444	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:615444	OFD1	8481	HP:0000246	Sinusitis
OMIM:615444	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:615444	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:615444	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:615444	DNAAF1	123872	HP:0000789	Infertility
OMIM:615444	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:615444	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:615444	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:615444	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:615444	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:615444	RSPH4A	345895	HP:0000789	Infertility
OMIM:615444	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:615444	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:615444	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:615444	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:615444	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:615444	ZMYND10	51364	HP:0000789	Infertility
OMIM:615444	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:615444	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:615444	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:615444	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:615444	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:615444	RSPH1	89765	HP:0000789	Infertility
OMIM:615444	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:615444	RSPH1	89765	HP:0000246	Sinusitis
OMIM:615444	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:615444	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:615444	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:615444	DNAH5	1767	HP:0000789	Infertility
OMIM:615444	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:615444	DNAH5	1767	HP:0000246	Sinusitis
OMIM:615444	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:615444	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:615444	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:615444	CCDC65	85478	HP:0000789	Infertility
OMIM:615444	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:615444	CCDC65	85478	HP:0000246	Sinusitis
OMIM:615444	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:615444	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:615444	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:615444	C21ORF59	56683	HP:0000789	Infertility
OMIM:615444	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:615444	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:615444	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:615444	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:615444	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:615444	DYX1C1	161582	HP:0000789	Infertility
OMIM:615444	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:615444	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:615444	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:615444	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:615444	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:615444	CCDC151	115948	HP:0000789	Infertility
OMIM:615444	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:615444	CCDC151	115948	HP:0000246	Sinusitis
OMIM:615444	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:615444	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:615444	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:615444	RSPH9	221421	HP:0000789	Infertility
OMIM:615444	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:615444	RSPH9	221421	HP:0000246	Sinusitis
OMIM:615444	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:615444	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:615444	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:615444	CCDC39	339829	HP:0000789	Infertility
OMIM:615444	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:615444	CCDC39	339829	HP:0000246	Sinusitis
OMIM:615444	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:615444	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:615444	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:615444	HYDIN	54768	HP:0000789	Infertility
OMIM:615444	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:615444	HYDIN	54768	HP:0000246	Sinusitis
OMIM:615444	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:615444	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:615444	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:615444	CCDC114	93233	HP:0000789	Infertility
OMIM:615444	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:615444	CCDC114	93233	HP:0000246	Sinusitis
OMIM:615444	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:615444	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:615444	NME8	51314	HP:0002110	Bronchiectasis
OMIM:615444	NME8	51314	HP:0000789	Infertility
OMIM:615444	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:615444	NME8	51314	HP:0000246	Sinusitis
OMIM:615444	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:615444	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:615444	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:615444	CCDC40	55036	HP:0000789	Infertility
OMIM:615444	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:615444	CCDC40	55036	HP:0000246	Sinusitis
OMIM:615444	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:615444	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:615444	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:615444	DNAH11	8701	HP:0000789	Infertility
OMIM:615444	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:615444	DNAH11	8701	HP:0000246	Sinusitis
OMIM:615444	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:615444	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:615444	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:615444	DNAI2	64446	HP:0000789	Infertility
OMIM:615444	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:615444	DNAI2	64446	HP:0000246	Sinusitis
OMIM:615444	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:615444	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:615444	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:615444	GAS8	2622	HP:0000789	Infertility
OMIM:615444	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:615444	GAS8	2622	HP:0000246	Sinusitis
OMIM:236750	HBA2	3040	HP:0001562	Oligohydramnios
OMIM:236750	HBA2	3040	HP:0002240	Hepatomegaly
OMIM:236750	HBA2	3040	HP:0001635	Congestive heart failure
OMIM:236750	HBA2	3040	HP:0001744	Splenomegaly
OMIM:236750	HBA2	3040	HP:0100603	Toxemia of pregnancy
OMIM:236750	HBA2	3040	HP:0001903	Anemia
OMIM:236750	HBA2	3040	HP:0000980	Pallor
OMIM:236750	HBA2	3040	HP:0001789	Hydrops fetalis
OMIM:236750	HBA2	3040	HP:0000238	Hydrocephalus
OMIM:236750	HBA2	3040	HP:0001561	Polyhydramnios
OMIM:236750	HBA1	3039	HP:0001562	Oligohydramnios
OMIM:236750	HBA1	3039	HP:0002240	Hepatomegaly
OMIM:236750	HBA1	3039	HP:0001635	Congestive heart failure
OMIM:236750	HBA1	3039	HP:0001744	Splenomegaly
OMIM:236750	HBA1	3039	HP:0100603	Toxemia of pregnancy
OMIM:236750	HBA1	3039	HP:0001903	Anemia
OMIM:236750	HBA1	3039	HP:0000980	Pallor
OMIM:236750	HBA1	3039	HP:0001789	Hydrops fetalis
OMIM:236750	HBA1	3039	HP:0000238	Hydrocephalus
OMIM:236750	HBA1	3039	HP:0001561	Polyhydramnios
OMIM:616503	ADGRG6	57211	HP:0002089	Pulmonary hypoplasia
OMIM:616503	ADGRG6	57211	HP:0005280	Depressed nasal bridge
OMIM:616503	ADGRG6	57211	HP:0000316	Hypertelorism
OMIM:616503	ADGRG6	57211	HP:0000347	Micrognathia
OMIM:616503	ADGRG6	57211	HP:0000775	Abnormality of the diaphragm
OMIM:616503	ADGRG6	57211	HP:0000369	Low-set ears
OMIM:616503	ADGRG6	57211	HP:0000463	Anteverted nares
OMIM:616503	ADGRG6	57211	HP:0002650	Scoliosis
OMIM:616503	ADGRG6	57211	HP:0001561	Polyhydramnios
OMIM:616503	ADGRG6	57211	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:616503	ADGRG6	57211	HP:0001558	Decreased fetal movement
OMIM:616503	ADGRG6	57211	HP:0000325	Triangular face
OMIM:616503	ADGRG6	57211	HP:0000219	Thin upper lip vermilion
OMIM:616503	ADGRG6	57211	HP:0001762	Talipes equinovarus
OMIM:616503	ADGRG6	57211	HP:0001511	Intrauterine growth retardation
OMIM:616503	ADGRG6	57211	HP:0001181	Adducted thumb
OMIM:187950	MPL	4352	HP:0000924	Abnormality of the skeletal system
OMIM:187950	MPL	4352	HP:0001744	Splenomegaly
OMIM:187950	MPL	4352	HP:0001894	Thrombocytosis
OMIM:187950	MPL	4352	HP:0005547	Myeloproliferative disorder
OMIM:187950	MPL	4352	HP:0001063	Acrocyanosis
OMIM:187950	MPL	4352	HP:0001428	Somatic mutation
OMIM:187950	MPL	4352	HP:0000822	Hypertension
OMIM:187950	MPL	4352	HP:0003540	Impaired platelet aggregation
OMIM:187950	MPL	4352	HP:0000006	Autosomal dominant inheritance
OMIM:187950	SH2B3	10019	HP:0000924	Abnormality of the skeletal system
OMIM:187950	SH2B3	10019	HP:0001744	Splenomegaly
OMIM:187950	SH2B3	10019	HP:0001894	Thrombocytosis
OMIM:187950	SH2B3	10019	HP:0005547	Myeloproliferative disorder
OMIM:187950	SH2B3	10019	HP:0001063	Acrocyanosis
OMIM:187950	SH2B3	10019	HP:0001428	Somatic mutation
OMIM:187950	SH2B3	10019	HP:0000822	Hypertension
OMIM:187950	SH2B3	10019	HP:0003540	Impaired platelet aggregation
OMIM:187950	SH2B3	10019	HP:0000006	Autosomal dominant inheritance
OMIM:187950	TP53	7157	HP:0000924	Abnormality of the skeletal system
OMIM:187950	TP53	7157	HP:0001744	Splenomegaly
OMIM:187950	TP53	7157	HP:0001894	Thrombocytosis
OMIM:187950	TP53	7157	HP:0005547	Myeloproliferative disorder
OMIM:187950	TP53	7157	HP:0001063	Acrocyanosis
OMIM:187950	TP53	7157	HP:0001428	Somatic mutation
OMIM:187950	TP53	7157	HP:0000822	Hypertension
OMIM:187950	TP53	7157	HP:0003540	Impaired platelet aggregation
OMIM:187950	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:187950	JAK2	3717	HP:0000924	Abnormality of the skeletal system
OMIM:187950	JAK2	3717	HP:0001744	Splenomegaly
OMIM:187950	JAK2	3717	HP:0001894	Thrombocytosis
OMIM:187950	JAK2	3717	HP:0005547	Myeloproliferative disorder
OMIM:187950	JAK2	3717	HP:0001063	Acrocyanosis
OMIM:187950	JAK2	3717	HP:0001428	Somatic mutation
OMIM:187950	JAK2	3717	HP:0000822	Hypertension
OMIM:187950	JAK2	3717	HP:0003540	Impaired platelet aggregation
OMIM:187950	JAK2	3717	HP:0000006	Autosomal dominant inheritance
OMIM:187950	TET2	54790	HP:0000924	Abnormality of the skeletal system
OMIM:187950	TET2	54790	HP:0001744	Splenomegaly
OMIM:187950	TET2	54790	HP:0001894	Thrombocytosis
OMIM:187950	TET2	54790	HP:0005547	Myeloproliferative disorder
OMIM:187950	TET2	54790	HP:0001063	Acrocyanosis
OMIM:187950	TET2	54790	HP:0001428	Somatic mutation
OMIM:187950	TET2	54790	HP:0000822	Hypertension
OMIM:187950	TET2	54790	HP:0003540	Impaired platelet aggregation
OMIM:187950	TET2	54790	HP:0000006	Autosomal dominant inheritance
OMIM:187950	THPO	7066	HP:0000924	Abnormality of the skeletal system
OMIM:187950	THPO	7066	HP:0001744	Splenomegaly
OMIM:187950	THPO	7066	HP:0001894	Thrombocytosis
OMIM:187950	THPO	7066	HP:0005547	Myeloproliferative disorder
OMIM:187950	THPO	7066	HP:0001063	Acrocyanosis
OMIM:187950	THPO	7066	HP:0001428	Somatic mutation
OMIM:187950	THPO	7066	HP:0000822	Hypertension
OMIM:187950	THPO	7066	HP:0003540	Impaired platelet aggregation
OMIM:187950	THPO	7066	HP:0000006	Autosomal dominant inheritance
OMIM:187950	CALR	811	HP:0000924	Abnormality of the skeletal system
OMIM:187950	CALR	811	HP:0001744	Splenomegaly
OMIM:187950	CALR	811	HP:0001894	Thrombocytosis
OMIM:187950	CALR	811	HP:0005547	Myeloproliferative disorder
OMIM:187950	CALR	811	HP:0001063	Acrocyanosis
OMIM:187950	CALR	811	HP:0001428	Somatic mutation
OMIM:187950	CALR	811	HP:0000822	Hypertension
OMIM:187950	CALR	811	HP:0003540	Impaired platelet aggregation
OMIM:187950	CALR	811	HP:0000006	Autosomal dominant inheritance
OMIM:614175	B9D1	27077	HP:0100259	Postaxial polydactyly
OMIM:614175	B9D1	27077	HP:0000107	Renal cyst
OMIM:614175	B9D1	27077	HP:0002323	Anencephaly
OMIM:614175	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:614175	B9D1	27077	HP:0000960	Sacral dimple
OMIM:614175	B9D1	27077	HP:0002085	Occipital encephalocele
OMIM:614175	RPGRIP1	57096	HP:0100259	Postaxial polydactyly
OMIM:614175	RPGRIP1	57096	HP:0000107	Renal cyst
OMIM:614175	RPGRIP1	57096	HP:0002323	Anencephaly
OMIM:614175	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:614175	RPGRIP1	57096	HP:0000960	Sacral dimple
OMIM:614175	RPGRIP1	57096	HP:0002085	Occipital encephalocele
OMIM:614175	B9D2	80776	HP:0100259	Postaxial polydactyly
OMIM:614175	B9D2	80776	HP:0000107	Renal cyst
OMIM:614175	B9D2	80776	HP:0002323	Anencephaly
OMIM:614175	B9D2	80776	HP:0000007	Autosomal recessive inheritance
OMIM:614175	B9D2	80776	HP:0000960	Sacral dimple
OMIM:614175	B9D2	80776	HP:0002085	Occipital encephalocele
OMIM:614175	CC2D2A	57545	HP:0100259	Postaxial polydactyly
OMIM:614175	CC2D2A	57545	HP:0000107	Renal cyst
OMIM:614175	CC2D2A	57545	HP:0002323	Anencephaly
OMIM:614175	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:614175	CC2D2A	57545	HP:0000960	Sacral dimple
OMIM:614175	CC2D2A	57545	HP:0002085	Occipital encephalocele
OMIM:614175	CSPP1	79848	HP:0100259	Postaxial polydactyly
OMIM:614175	CSPP1	79848	HP:0000107	Renal cyst
OMIM:614175	CSPP1	79848	HP:0002323	Anencephaly
OMIM:614175	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:614175	CSPP1	79848	HP:0000960	Sacral dimple
OMIM:614175	CSPP1	79848	HP:0002085	Occipital encephalocele
OMIM:614175	TMEM67	91147	HP:0100259	Postaxial polydactyly
OMIM:614175	TMEM67	91147	HP:0000107	Renal cyst
OMIM:614175	TMEM67	91147	HP:0002323	Anencephaly
OMIM:614175	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:614175	TMEM67	91147	HP:0000960	Sacral dimple
OMIM:614175	TMEM67	91147	HP:0002085	Occipital encephalocele
OMIM:614175	WDPCP	51057	HP:0100259	Postaxial polydactyly
OMIM:614175	WDPCP	51057	HP:0000107	Renal cyst
OMIM:614175	WDPCP	51057	HP:0002323	Anencephaly
OMIM:614175	WDPCP	51057	HP:0000007	Autosomal recessive inheritance
OMIM:614175	WDPCP	51057	HP:0000960	Sacral dimple
OMIM:614175	WDPCP	51057	HP:0002085	Occipital encephalocele
OMIM:614175	MKS1	54903	HP:0100259	Postaxial polydactyly
OMIM:614175	MKS1	54903	HP:0000107	Renal cyst
OMIM:614175	MKS1	54903	HP:0002323	Anencephaly
OMIM:614175	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:614175	MKS1	54903	HP:0000960	Sacral dimple
OMIM:614175	MKS1	54903	HP:0002085	Occipital encephalocele
OMIM:614175	CEP290	80184	HP:0100259	Postaxial polydactyly
OMIM:614175	CEP290	80184	HP:0000107	Renal cyst
OMIM:614175	CEP290	80184	HP:0002323	Anencephaly
OMIM:614175	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:614175	CEP290	80184	HP:0000960	Sacral dimple
OMIM:614175	CEP290	80184	HP:0002085	Occipital encephalocele
OMIM:614175	RPGRIP1L	23322	HP:0100259	Postaxial polydactyly
OMIM:614175	RPGRIP1L	23322	HP:0000107	Renal cyst
OMIM:614175	RPGRIP1L	23322	HP:0002323	Anencephaly
OMIM:614175	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:614175	RPGRIP1L	23322	HP:0000960	Sacral dimple
OMIM:614175	RPGRIP1L	23322	HP:0002085	Occipital encephalocele
OMIM:614175	TCTN2	79867	HP:0100259	Postaxial polydactyly
OMIM:614175	TCTN2	79867	HP:0000107	Renal cyst
OMIM:614175	TCTN2	79867	HP:0002323	Anencephaly
OMIM:614175	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:614175	TCTN2	79867	HP:0000960	Sacral dimple
OMIM:614175	TCTN2	79867	HP:0002085	Occipital encephalocele
OMIM:614175	TMEM216	51259	HP:0100259	Postaxial polydactyly
OMIM:614175	TMEM216	51259	HP:0000107	Renal cyst
OMIM:614175	TMEM216	51259	HP:0002323	Anencephaly
OMIM:614175	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:614175	TMEM216	51259	HP:0000960	Sacral dimple
OMIM:614175	TMEM216	51259	HP:0002085	Occipital encephalocele
OMIM:614175	TMEM231	79583	HP:0100259	Postaxial polydactyly
OMIM:614175	TMEM231	79583	HP:0000107	Renal cyst
OMIM:614175	TMEM231	79583	HP:0002323	Anencephaly
OMIM:614175	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:614175	TMEM231	79583	HP:0000960	Sacral dimple
OMIM:614175	TMEM231	79583	HP:0002085	Occipital encephalocele
OMIM:252900	SGSH	6448	HP:0000664	Synophrys
OMIM:252900	SGSH	6448	HP:0001744	Splenomegaly
OMIM:252900	SGSH	6448	HP:0002360	Sleep disturbance
OMIM:252900	SGSH	6448	HP:0002014	Diarrhea
OMIM:252900	SGSH	6448	HP:0002240	Hepatomegaly
OMIM:252900	SGSH	6448	HP:0002159	Heparan sulfate excretion in urine
OMIM:252900	SGSH	6448	HP:0001249	Intellectual disability
OMIM:252900	SGSH	6448	HP:0001387	Joint stiffness
OMIM:252900	SGSH	6448	HP:0000280	Coarse facial features
OMIM:252900	SGSH	6448	HP:0000365	Hearing impairment
OMIM:252900	SGSH	6448	HP:0002788	Recurrent upper respiratory tract infections
OMIM:252900	SGSH	6448	HP:0001250	Seizures
OMIM:252900	SGSH	6448	HP:0000007	Autosomal recessive inheritance
OMIM:252900	SGSH	6448	HP:0000943	Dysostosis multiplex
OMIM:252900	SGSH	6448	HP:0000900	Thickened ribs
OMIM:252900	SGSH	6448	HP:0003309	Ovoid thoracolumbar vertebrae
OMIM:252900	SGSH	6448	HP:0001507	Growth abnormality
OMIM:252900	SGSH	6448	HP:0000752	Hyperactivity
OMIM:252900	SGSH	6448	HP:0001007	Hirsutism
OMIM:252900	SGSH	6448	HP:0002208	Coarse hair
OMIM:252900	SGSH	6448	HP:0001670	Asymmetric septal hypertrophy
OMIM:609566	ALX4	60529	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:609566	ALX4	60529	HP:0007385	Aplasia cutis congenita of scalp
OMIM:609566	ALX4	60529	HP:0002084	Encephalocele
OMIM:609566	ALX4	60529	HP:0002697	Parietal foramina
OMIM:609566	ALX4	60529	HP:0000006	Autosomal dominant inheritance
OMIM:609566	MSX2	4488	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:609566	MSX2	4488	HP:0007385	Aplasia cutis congenita of scalp
OMIM:609566	MSX2	4488	HP:0002084	Encephalocele
OMIM:609566	MSX2	4488	HP:0002697	Parietal foramina
OMIM:609566	MSX2	4488	HP:0000006	Autosomal dominant inheritance
ORPHANET:2754	OFD1	8481	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:2754	OFD1	8481	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2754	OFD1	8481	HP:0000276	Long face
ORPHANET:2754	OFD1	8481	HP:0002251	Aganglionic megacolon
ORPHANET:2754	OFD1	8481	HP:0002104	Apnea
ORPHANET:2754	OFD1	8481	HP:0000486	Strabismus
ORPHANET:2754	OFD1	8481	HP:0000175	Cleft palate
ORPHANET:2754	OFD1	8481	HP:0100543	Cognitive impairment
ORPHANET:2754	OFD1	8481	HP:0002553	Highly arched eyebrow
ORPHANET:2754	OFD1	8481	HP:0001337	Tremor
ORPHANET:2754	OFD1	8481	HP:0004299	Hernia of the abdominal wall
ORPHANET:2754	OFD1	8481	HP:0000204	Cleft upper lip
ORPHANET:2754	OFD1	8481	HP:0000028	Cryptorchidism
ORPHANET:2754	OFD1	8481	HP:0000341	Narrow forehead
ORPHANET:2754	OFD1	8481	HP:0002084	Encephalocele
ORPHANET:2754	OFD1	8481	HP:0002311	Incoordination
ORPHANET:2754	OFD1	8481	HP:0000463	Anteverted nares
ORPHANET:2754	OFD1	8481	HP:0000612	Iris coloboma
ORPHANET:2754	OFD1	8481	HP:0001829	Foot polydactyly
ORPHANET:2754	OFD1	8481	HP:0000508	Ptosis
ORPHANET:2754	OFD1	8481	HP:0001161	Hand polydactyly
ORPHANET:2754	OFD1	8481	HP:0001252	Muscular hypotonia
ORPHANET:2754	OFD1	8481	HP:0000657	Oculomotor apraxia
ORPHANET:2754	OFD1	8481	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2754	OFD1	8481	HP:0001288	Gait disturbance
ORPHANET:2754	OFD1	8481	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2754	OFD1	8481	HP:0000426	Prominent nasal bridge
ORPHANET:2754	OFD1	8481	HP:0000639	Nystagmus
ORPHANET:2754	OFD1	8481	HP:0001250	Seizures
ORPHANET:2754	C5ORF42	65250	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:2754	C5ORF42	65250	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2754	C5ORF42	65250	HP:0000276	Long face
ORPHANET:2754	C5ORF42	65250	HP:0002251	Aganglionic megacolon
ORPHANET:2754	C5ORF42	65250	HP:0002104	Apnea
ORPHANET:2754	C5ORF42	65250	HP:0000486	Strabismus
ORPHANET:2754	C5ORF42	65250	HP:0000175	Cleft palate
ORPHANET:2754	C5ORF42	65250	HP:0100543	Cognitive impairment
ORPHANET:2754	C5ORF42	65250	HP:0002553	Highly arched eyebrow
ORPHANET:2754	C5ORF42	65250	HP:0001337	Tremor
ORPHANET:2754	C5ORF42	65250	HP:0004299	Hernia of the abdominal wall
ORPHANET:2754	C5ORF42	65250	HP:0000204	Cleft upper lip
ORPHANET:2754	C5ORF42	65250	HP:0000028	Cryptorchidism
ORPHANET:2754	C5ORF42	65250	HP:0000341	Narrow forehead
ORPHANET:2754	C5ORF42	65250	HP:0002084	Encephalocele
ORPHANET:2754	C5ORF42	65250	HP:0002311	Incoordination
ORPHANET:2754	C5ORF42	65250	HP:0000463	Anteverted nares
ORPHANET:2754	C5ORF42	65250	HP:0000612	Iris coloboma
ORPHANET:2754	C5ORF42	65250	HP:0001829	Foot polydactyly
ORPHANET:2754	C5ORF42	65250	HP:0000508	Ptosis
ORPHANET:2754	C5ORF42	65250	HP:0001161	Hand polydactyly
ORPHANET:2754	C5ORF42	65250	HP:0001252	Muscular hypotonia
ORPHANET:2754	C5ORF42	65250	HP:0000657	Oculomotor apraxia
ORPHANET:2754	C5ORF42	65250	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2754	C5ORF42	65250	HP:0001288	Gait disturbance
ORPHANET:2754	C5ORF42	65250	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2754	C5ORF42	65250	HP:0000426	Prominent nasal bridge
ORPHANET:2754	C5ORF42	65250	HP:0000639	Nystagmus
ORPHANET:2754	C5ORF42	65250	HP:0001250	Seizures
ORPHANET:2754	TMEM216	51259	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:2754	TMEM216	51259	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2754	TMEM216	51259	HP:0000276	Long face
ORPHANET:2754	TMEM216	51259	HP:0002251	Aganglionic megacolon
ORPHANET:2754	TMEM216	51259	HP:0002104	Apnea
ORPHANET:2754	TMEM216	51259	HP:0000486	Strabismus
ORPHANET:2754	TMEM216	51259	HP:0000175	Cleft palate
ORPHANET:2754	TMEM216	51259	HP:0100543	Cognitive impairment
ORPHANET:2754	TMEM216	51259	HP:0002553	Highly arched eyebrow
ORPHANET:2754	TMEM216	51259	HP:0001337	Tremor
ORPHANET:2754	TMEM216	51259	HP:0004299	Hernia of the abdominal wall
ORPHANET:2754	TMEM216	51259	HP:0000204	Cleft upper lip
ORPHANET:2754	TMEM216	51259	HP:0000028	Cryptorchidism
ORPHANET:2754	TMEM216	51259	HP:0000341	Narrow forehead
ORPHANET:2754	TMEM216	51259	HP:0002084	Encephalocele
ORPHANET:2754	TMEM216	51259	HP:0002311	Incoordination
ORPHANET:2754	TMEM216	51259	HP:0000463	Anteverted nares
ORPHANET:2754	TMEM216	51259	HP:0000612	Iris coloboma
ORPHANET:2754	TMEM216	51259	HP:0001829	Foot polydactyly
ORPHANET:2754	TMEM216	51259	HP:0000508	Ptosis
ORPHANET:2754	TMEM216	51259	HP:0001161	Hand polydactyly
ORPHANET:2754	TMEM216	51259	HP:0001252	Muscular hypotonia
ORPHANET:2754	TMEM216	51259	HP:0000657	Oculomotor apraxia
ORPHANET:2754	TMEM216	51259	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2754	TMEM216	51259	HP:0001288	Gait disturbance
ORPHANET:2754	TMEM216	51259	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2754	TMEM216	51259	HP:0000426	Prominent nasal bridge
ORPHANET:2754	TMEM216	51259	HP:0000639	Nystagmus
ORPHANET:2754	TMEM216	51259	HP:0001250	Seizures
ORPHANET:2754	KIF7	374654	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:2754	KIF7	374654	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2754	KIF7	374654	HP:0000276	Long face
ORPHANET:2754	KIF7	374654	HP:0002251	Aganglionic megacolon
ORPHANET:2754	KIF7	374654	HP:0002104	Apnea
ORPHANET:2754	KIF7	374654	HP:0000486	Strabismus
ORPHANET:2754	KIF7	374654	HP:0000175	Cleft palate
ORPHANET:2754	KIF7	374654	HP:0100543	Cognitive impairment
ORPHANET:2754	KIF7	374654	HP:0002553	Highly arched eyebrow
ORPHANET:2754	KIF7	374654	HP:0001337	Tremor
ORPHANET:2754	KIF7	374654	HP:0004299	Hernia of the abdominal wall
ORPHANET:2754	KIF7	374654	HP:0000204	Cleft upper lip
ORPHANET:2754	KIF7	374654	HP:0000028	Cryptorchidism
ORPHANET:2754	KIF7	374654	HP:0000341	Narrow forehead
ORPHANET:2754	KIF7	374654	HP:0002084	Encephalocele
ORPHANET:2754	KIF7	374654	HP:0002311	Incoordination
ORPHANET:2754	KIF7	374654	HP:0000463	Anteverted nares
ORPHANET:2754	KIF7	374654	HP:0000612	Iris coloboma
ORPHANET:2754	KIF7	374654	HP:0001829	Foot polydactyly
ORPHANET:2754	KIF7	374654	HP:0000508	Ptosis
ORPHANET:2754	KIF7	374654	HP:0001161	Hand polydactyly
ORPHANET:2754	KIF7	374654	HP:0001252	Muscular hypotonia
ORPHANET:2754	KIF7	374654	HP:0000657	Oculomotor apraxia
ORPHANET:2754	KIF7	374654	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2754	KIF7	374654	HP:0001288	Gait disturbance
ORPHANET:2754	KIF7	374654	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2754	KIF7	374654	HP:0000426	Prominent nasal bridge
ORPHANET:2754	KIF7	374654	HP:0000639	Nystagmus
ORPHANET:2754	KIF7	374654	HP:0001250	Seizures
ORPHANET:2754	TCTN3	26123	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:2754	TCTN3	26123	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2754	TCTN3	26123	HP:0000276	Long face
ORPHANET:2754	TCTN3	26123	HP:0002251	Aganglionic megacolon
ORPHANET:2754	TCTN3	26123	HP:0002104	Apnea
ORPHANET:2754	TCTN3	26123	HP:0000486	Strabismus
ORPHANET:2754	TCTN3	26123	HP:0000175	Cleft palate
ORPHANET:2754	TCTN3	26123	HP:0100543	Cognitive impairment
ORPHANET:2754	TCTN3	26123	HP:0002553	Highly arched eyebrow
ORPHANET:2754	TCTN3	26123	HP:0001337	Tremor
ORPHANET:2754	TCTN3	26123	HP:0004299	Hernia of the abdominal wall
ORPHANET:2754	TCTN3	26123	HP:0000204	Cleft upper lip
ORPHANET:2754	TCTN3	26123	HP:0000028	Cryptorchidism
ORPHANET:2754	TCTN3	26123	HP:0000341	Narrow forehead
ORPHANET:2754	TCTN3	26123	HP:0002084	Encephalocele
ORPHANET:2754	TCTN3	26123	HP:0002311	Incoordination
ORPHANET:2754	TCTN3	26123	HP:0000463	Anteverted nares
ORPHANET:2754	TCTN3	26123	HP:0000612	Iris coloboma
ORPHANET:2754	TCTN3	26123	HP:0001829	Foot polydactyly
ORPHANET:2754	TCTN3	26123	HP:0000508	Ptosis
ORPHANET:2754	TCTN3	26123	HP:0001161	Hand polydactyly
ORPHANET:2754	TCTN3	26123	HP:0001252	Muscular hypotonia
ORPHANET:2754	TCTN3	26123	HP:0000657	Oculomotor apraxia
ORPHANET:2754	TCTN3	26123	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2754	TCTN3	26123	HP:0001288	Gait disturbance
ORPHANET:2754	TCTN3	26123	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2754	TCTN3	26123	HP:0000426	Prominent nasal bridge
ORPHANET:2754	TCTN3	26123	HP:0000639	Nystagmus
ORPHANET:2754	TCTN3	26123	HP:0001250	Seizures
ORPHANET:2754	PDE6D	5147	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:2754	PDE6D	5147	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2754	PDE6D	5147	HP:0000276	Long face
ORPHANET:2754	PDE6D	5147	HP:0002251	Aganglionic megacolon
ORPHANET:2754	PDE6D	5147	HP:0002104	Apnea
ORPHANET:2754	PDE6D	5147	HP:0000486	Strabismus
ORPHANET:2754	PDE6D	5147	HP:0000175	Cleft palate
ORPHANET:2754	PDE6D	5147	HP:0100543	Cognitive impairment
ORPHANET:2754	PDE6D	5147	HP:0002553	Highly arched eyebrow
ORPHANET:2754	PDE6D	5147	HP:0001337	Tremor
ORPHANET:2754	PDE6D	5147	HP:0004299	Hernia of the abdominal wall
ORPHANET:2754	PDE6D	5147	HP:0000204	Cleft upper lip
ORPHANET:2754	PDE6D	5147	HP:0000028	Cryptorchidism
ORPHANET:2754	PDE6D	5147	HP:0000341	Narrow forehead
ORPHANET:2754	PDE6D	5147	HP:0002084	Encephalocele
ORPHANET:2754	PDE6D	5147	HP:0002311	Incoordination
ORPHANET:2754	PDE6D	5147	HP:0000463	Anteverted nares
ORPHANET:2754	PDE6D	5147	HP:0000612	Iris coloboma
ORPHANET:2754	PDE6D	5147	HP:0001829	Foot polydactyly
ORPHANET:2754	PDE6D	5147	HP:0000508	Ptosis
ORPHANET:2754	PDE6D	5147	HP:0001161	Hand polydactyly
ORPHANET:2754	PDE6D	5147	HP:0001252	Muscular hypotonia
ORPHANET:2754	PDE6D	5147	HP:0000657	Oculomotor apraxia
ORPHANET:2754	PDE6D	5147	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2754	PDE6D	5147	HP:0001288	Gait disturbance
ORPHANET:2754	PDE6D	5147	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2754	PDE6D	5147	HP:0000426	Prominent nasal bridge
ORPHANET:2754	PDE6D	5147	HP:0000639	Nystagmus
ORPHANET:2754	PDE6D	5147	HP:0001250	Seizures
OMIM:101800	PRKAR1A	5573	HP:0005280	Depressed nasal bridge
OMIM:101800	PRKAR1A	5573	HP:0000327	Hypoplasia of the maxilla
OMIM:101800	PRKAR1A	5573	HP:0000455	Broad nasal tip
OMIM:101800	PRKAR1A	5573	HP:0005616	Accelerated skeletal maturation
OMIM:101800	PRKAR1A	5573	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:101800	PRKAR1A	5573	HP:0000365	Hearing impairment
OMIM:101800	PRKAR1A	5573	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:101800	PRKAR1A	5573	HP:0008873	Disproportionate short-limb short stature
OMIM:101800	PRKAR1A	5573	HP:0000635	Blue irides
OMIM:101800	PRKAR1A	5573	HP:0000689	Dental malocclusion
OMIM:101800	PRKAR1A	5573	HP:0000463	Anteverted nares
OMIM:101800	PRKAR1A	5573	HP:0009803	Short phalanx of finger
OMIM:101800	PRKAR1A	5573	HP:0000995	Melanocytic nevus
OMIM:101800	PRKAR1A	5573	HP:0000286	Epicanthus
OMIM:101800	PRKAR1A	5573	HP:0000028	Cryptorchidism
OMIM:101800	PRKAR1A	5573	HP:0000668	Hypodontia
OMIM:101800	PRKAR1A	5573	HP:0004279	Short palm
OMIM:101800	PRKAR1A	5573	HP:0000006	Autosomal dominant inheritance
OMIM:101800	PRKAR1A	5573	HP:0000303	Mandibular prognathia
OMIM:101800	PRKAR1A	5573	HP:0010049	Short metacarpal
OMIM:101800	PRKAR1A	5573	HP:0000135	Hypogonadism
OMIM:101800	PRKAR1A	5573	HP:0000248	Brachycephaly
OMIM:101800	PRKAR1A	5573	HP:0000648	Optic atrophy
OMIM:101800	PRKAR1A	5573	HP:0000858	Menstrual irregularities
OMIM:101800	PRKAR1A	5573	HP:0002650	Scoliosis
OMIM:101800	PRKAR1A	5573	HP:0000486	Strabismus
OMIM:101800	PRKAR1A	5573	HP:0003416	Spinal canal stenosis
OMIM:101800	PRKAR1A	5573	HP:0000684	Delayed eruption of teeth
OMIM:101800	PRKAR1A	5573	HP:0000238	Hydrocephalus
OMIM:101800	PRKAR1A	5573	HP:0010743	Short metatarsal
OMIM:101800	PRKAR1A	5573	HP:0001249	Intellectual disability
OMIM:101800	PRKAR1A	5573	HP:0003083	Dislocated radial head
OMIM:101800	PRKAR1A	5573	HP:0000316	Hypertelorism
OMIM:101800	PDE4D	5144	HP:0005280	Depressed nasal bridge
OMIM:101800	PDE4D	5144	HP:0000327	Hypoplasia of the maxilla
OMIM:101800	PDE4D	5144	HP:0000455	Broad nasal tip
OMIM:101800	PDE4D	5144	HP:0005616	Accelerated skeletal maturation
OMIM:101800	PDE4D	5144	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:101800	PDE4D	5144	HP:0000365	Hearing impairment
OMIM:101800	PDE4D	5144	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:101800	PDE4D	5144	HP:0008873	Disproportionate short-limb short stature
OMIM:101800	PDE4D	5144	HP:0000635	Blue irides
OMIM:101800	PDE4D	5144	HP:0000689	Dental malocclusion
OMIM:101800	PDE4D	5144	HP:0000463	Anteverted nares
OMIM:101800	PDE4D	5144	HP:0009803	Short phalanx of finger
OMIM:101800	PDE4D	5144	HP:0000995	Melanocytic nevus
OMIM:101800	PDE4D	5144	HP:0000286	Epicanthus
OMIM:101800	PDE4D	5144	HP:0000028	Cryptorchidism
OMIM:101800	PDE4D	5144	HP:0000668	Hypodontia
OMIM:101800	PDE4D	5144	HP:0004279	Short palm
OMIM:101800	PDE4D	5144	HP:0000006	Autosomal dominant inheritance
OMIM:101800	PDE4D	5144	HP:0000303	Mandibular prognathia
OMIM:101800	PDE4D	5144	HP:0010049	Short metacarpal
OMIM:101800	PDE4D	5144	HP:0000135	Hypogonadism
OMIM:101800	PDE4D	5144	HP:0000248	Brachycephaly
OMIM:101800	PDE4D	5144	HP:0000648	Optic atrophy
OMIM:101800	PDE4D	5144	HP:0000858	Menstrual irregularities
OMIM:101800	PDE4D	5144	HP:0002650	Scoliosis
OMIM:101800	PDE4D	5144	HP:0000486	Strabismus
OMIM:101800	PDE4D	5144	HP:0003416	Spinal canal stenosis
OMIM:101800	PDE4D	5144	HP:0000684	Delayed eruption of teeth
OMIM:101800	PDE4D	5144	HP:0000238	Hydrocephalus
OMIM:101800	PDE4D	5144	HP:0010743	Short metatarsal
OMIM:101800	PDE4D	5144	HP:0001249	Intellectual disability
OMIM:101800	PDE4D	5144	HP:0003083	Dislocated radial head
OMIM:101800	PDE4D	5144	HP:0000316	Hypertelorism
OMIM:601709	PLAU	5328	HP:0000006	Autosomal dominant inheritance
OMIM:601709	PLAU	5328	HP:0000978	Bruising susceptibility
OMIM:601709	PLAU	5328	HP:0000421	Epistaxis
OMIM:601709	PLAU	5328	HP:0001873	Thrombocytopenia
OMIM:612780	KCNJ10	3766	HP:0000750	Delayed speech and language development
OMIM:612780	KCNJ10	3766	HP:0004322	Short stature
OMIM:612780	KCNJ10	3766	HP:0001272	Cerebellar atrophy
OMIM:612780	KCNJ10	3766	HP:0007182	Peripheral hypomyelination
OMIM:612780	KCNJ10	3766	HP:0001263	Global developmental delay
OMIM:612780	KCNJ10	3766	HP:0001250	Seizures
OMIM:612780	KCNJ10	3766	HP:0001252	Muscular hypotonia
OMIM:612780	KCNJ10	3766	HP:0000007	Autosomal recessive inheritance
OMIM:612780	KCNJ10	3766	HP:0000407	Sensorineural hearing impairment
OMIM:612780	KCNJ10	3766	HP:0000805	Enuresis
OMIM:612780	KCNJ10	3766	HP:0001249	Intellectual disability
OMIM:612780	KCNJ10	3766	HP:0003593	Infantile onset
OMIM:612780	KCNJ10	3766	HP:0002075	Dysdiadochokinesis
OMIM:613115	KIF1A	547	HP:0001257	Spasticity
OMIM:613115	KIF1A	547	HP:0001069	Episodic hyperhidrosis
OMIM:613115	KIF1A	547	HP:0003477	Peripheral axonal neuropathy
OMIM:613115	KIF1A	547	HP:0000007	Autosomal recessive inheritance
OMIM:613115	KIF1A	547	HP:0001265	Hyporeflexia
OMIM:613115	KIF1A	547	HP:0000020	Urinary incontinence
OMIM:613115	KIF1A	547	HP:0001284	Areflexia
OMIM:613115	KIF1A	547	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:613115	KIF1A	547	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:613115	KIF1A	547	HP:0003621	Juvenile onset
OMIM:613115	KIF1A	547	HP:0002754	Osteomyelitis
OMIM:613115	KIF1A	547	HP:0003676	Progressive
OMIM:613115	WNK1	65125	HP:0001257	Spasticity
OMIM:613115	WNK1	65125	HP:0001069	Episodic hyperhidrosis
OMIM:613115	WNK1	65125	HP:0003477	Peripheral axonal neuropathy
OMIM:613115	WNK1	65125	HP:0000007	Autosomal recessive inheritance
OMIM:613115	WNK1	65125	HP:0001265	Hyporeflexia
OMIM:613115	WNK1	65125	HP:0000020	Urinary incontinence
OMIM:613115	WNK1	65125	HP:0001284	Areflexia
OMIM:613115	WNK1	65125	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:613115	WNK1	65125	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:613115	WNK1	65125	HP:0003621	Juvenile onset
OMIM:613115	WNK1	65125	HP:0002754	Osteomyelitis
OMIM:613115	WNK1	65125	HP:0003676	Progressive
OMIM:613115	FAM134B	54463	HP:0001257	Spasticity
OMIM:613115	FAM134B	54463	HP:0001069	Episodic hyperhidrosis
OMIM:613115	FAM134B	54463	HP:0003477	Peripheral axonal neuropathy
OMIM:613115	FAM134B	54463	HP:0000007	Autosomal recessive inheritance
OMIM:613115	FAM134B	54463	HP:0001265	Hyporeflexia
OMIM:613115	FAM134B	54463	HP:0000020	Urinary incontinence
OMIM:613115	FAM134B	54463	HP:0001284	Areflexia
OMIM:613115	FAM134B	54463	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:613115	FAM134B	54463	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:613115	FAM134B	54463	HP:0003621	Juvenile onset
OMIM:613115	FAM134B	54463	HP:0002754	Osteomyelitis
OMIM:613115	FAM134B	54463	HP:0003676	Progressive
OMIM:613115	SCN9A	6335	HP:0001257	Spasticity
OMIM:613115	SCN9A	6335	HP:0001069	Episodic hyperhidrosis
OMIM:613115	SCN9A	6335	HP:0003477	Peripheral axonal neuropathy
OMIM:613115	SCN9A	6335	HP:0000007	Autosomal recessive inheritance
OMIM:613115	SCN9A	6335	HP:0001265	Hyporeflexia
OMIM:613115	SCN9A	6335	HP:0000020	Urinary incontinence
OMIM:613115	SCN9A	6335	HP:0001284	Areflexia
OMIM:613115	SCN9A	6335	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:613115	SCN9A	6335	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:613115	SCN9A	6335	HP:0003621	Juvenile onset
OMIM:613115	SCN9A	6335	HP:0002754	Osteomyelitis
OMIM:613115	SCN9A	6335	HP:0003676	Progressive
OMIM:236200	CBS	875	HP:0000501	Glaucoma
OMIM:236200	CBS	875	HP:0001508	Failure to thrive
OMIM:236200	CBS	875	HP:0001010	Hypopigmentation of the skin
OMIM:236200	CBS	875	HP:0002650	Scoliosis
OMIM:236200	CBS	875	HP:0002857	Genu valgum
OMIM:236200	CBS	875	HP:0100790	Hernia
OMIM:236200	CBS	875	HP:0000164	Abnormality of the teeth
OMIM:236200	CBS	875	HP:0004418	Thrombophlebitis
OMIM:236200	CBS	875	HP:0001634	Mitral valve prolapse
OMIM:236200	CBS	875	HP:0001658	Myocardial infarction
OMIM:236200	CBS	875	HP:0000218	High palate
OMIM:236200	CBS	875	HP:0001376	Limitation of joint mobility
OMIM:236200	CBS	875	HP:0002240	Hepatomegaly
OMIM:236200	CBS	875	HP:0001250	Seizures
OMIM:236200	CBS	875	HP:0001025	Urticaria
OMIM:236200	CBS	875	HP:0002637	Cerebral ischemia
OMIM:236200	CBS	875	HP:0100543	Cognitive impairment
OMIM:236200	CBS	875	HP:0001249	Intellectual disability
OMIM:236200	CBS	875	HP:0001166	Arachnodactyly
OMIM:236200	CBS	875	HP:0000174	Abnormality of the palate
OMIM:236200	CBS	875	HP:0002039	Anorexia
OMIM:236200	CBS	875	HP:0000768	Pectus carinatum
OMIM:236200	CBS	875	HP:0001083	Ectopia lentis
OMIM:236200	CBS	875	HP:0002170	Intracranial hemorrhage
OMIM:236200	CBS	875	HP:0002751	Kyphoscoliosis
OMIM:236200	CBS	875	HP:0000965	Cutis marmorata
OMIM:236200	CBS	875	HP:0004420	Arterial thrombosis
OMIM:236200	CBS	875	HP:0000767	Pectus excavatum
OMIM:236200	CBS	875	HP:0007703	Abnormality of retinal pigmentation
OMIM:236200	CBS	875	HP:0000007	Autosomal recessive inheritance
OMIM:236200	CBS	875	HP:0004349	Reduced bone mineral density
OMIM:236200	CBS	875	HP:0002757	Recurrent fractures
OMIM:236200	CBS	875	HP:0100026	Arteriovenous malformation
OMIM:236200	CBS	875	HP:0000708	Behavioral abnormality
OMIM:236200	CBS	875	HP:0001297	Stroke
OMIM:236200	CBS	875	HP:0001933	Subcutaneous hemorrhage
OMIM:236200	CBS	875	HP:0002910	Elevated hepatic transaminases
OMIM:236200	CBS	875	HP:0000505	Visual impairment
OMIM:236200	CBS	875	HP:0000545	Myopia
OMIM:236200	CBS	875	HP:0001907	Thromboembolism
OMIM:236200	CBS	875	HP:0000023	Inguinal hernia
OMIM:236200	CBS	875	HP:0000541	Retinal detachment
OMIM:236200	CBS	875	HP:0011362	Abnormal hair quantity
OMIM:236200	CBS	875	HP:0001397	Hepatic steatosis
OMIM:236200	CBS	875	HP:0002239	Gastrointestinal hemorrhage
OMIM:236200	CBS	875	HP:0001733	Pancreatitis
OMIM:236200	CBS	875	HP:0002204	Pulmonary embolism
OMIM:236200	CBS	875	HP:0002808	Kyphosis
OMIM:236200	CBS	875	HP:0000678	Dental crowding
OMIM:236200	CBS	875	HP:0000518	Cataract
OMIM:236200	CBS	875	HP:0004374	Hemiplegia/hemiparesis
OMIM:236200	CBS	875	HP:0002299	Brittle hair
OMIM:236200	CBS	875	HP:0000822	Hypertension
OMIM:236200	CBS	875	HP:0000648	Optic atrophy
OMIM:614934	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:614934	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:614934	BSND	7809	HP:0000365	Hearing impairment
OMIM:614934	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:614934	ESPN	83715	HP:0000365	Hearing impairment
OMIM:614934	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:614934	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:614934	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:614934	OTOA	146183	HP:0000365	Hearing impairment
OMIM:614934	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:614934	GJA1	2697	HP:0000365	Hearing impairment
OMIM:614934	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:614934	MET	4233	HP:0000365	Hearing impairment
OMIM:614934	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:614934	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:614934	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:614934	HGF	3082	HP:0000365	Hearing impairment
OMIM:614934	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:614934	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:614934	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:614934	EPS8	2059	HP:0000365	Hearing impairment
OMIM:614934	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:614934	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:614934	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:614934	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:614934	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:614934	GJB2	2706	HP:0000365	Hearing impairment
OMIM:614934	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:614934	GJB3	2707	HP:0000365	Hearing impairment
OMIM:614934	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:614934	CABP2	51475	HP:0000365	Hearing impairment
OMIM:614934	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:614934	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:614934	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:614934	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:614934	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:614934	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:614934	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:614934	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614934	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614934	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:614934	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:614934	KARS	3735	HP:0000365	Hearing impairment
OMIM:614934	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:614934	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:614934	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:614934	TMC1	117531	HP:0000365	Hearing impairment
OMIM:614934	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:614934	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:614934	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:614934	OTOF	9381	HP:0000365	Hearing impairment
OMIM:614934	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:614934	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614934	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614934	TMIE	259236	HP:0000365	Hearing impairment
OMIM:614934	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:614934	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:614934	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:614934	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:614934	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:614934	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:614934	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:614934	TPRN	286262	HP:0000365	Hearing impairment
OMIM:614934	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:614934	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:614934	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:614934	GJB6	10804	HP:0000365	Hearing impairment
OMIM:614934	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:614934	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:614934	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:614934	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:614934	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:614934	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:614934	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:614934	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:614934	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:614934	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614934	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614934	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:614934	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:614934	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:614934	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:614934	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:614934	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:614934	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:614934	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:614934	CDH23	64072	HP:0000365	Hearing impairment
OMIM:614934	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:614934	RDX	5962	HP:0000365	Hearing impairment
OMIM:614934	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:614934	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:614934	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:614934	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:614934	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:614934	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:614934	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:614934	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:614934	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:614934	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:614934	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:614934	STRC	161497	HP:0000365	Hearing impairment
OMIM:614934	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:614934	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:614934	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614934	TECTA	7007	HP:0000365	Hearing impairment
OMIM:614934	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:614934	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:614934	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:614934	USH1C	10083	HP:0000365	Hearing impairment
OMIM:614934	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:614934	ADCY1	107	HP:0000365	Hearing impairment
OMIM:614934	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:614934	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:614934	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:614934	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:614934	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:614934	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:614934	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:614934	OTOG	340990	HP:0000365	Hearing impairment
OMIM:614934	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:614034	HMOX1	3162	HP:0000790	Hematuria
OMIM:614034	HMOX1	3162	HP:0002240	Hepatomegaly
OMIM:614034	HMOX1	3162	HP:0000007	Autosomal recessive inheritance
OMIM:614034	HMOX1	3162	HP:0000093	Proteinuria
OMIM:614034	HMOX1	3162	HP:0001878	Hemolytic anemia
OMIM:614034	HMOX1	3162	HP:0001510	Growth delay
OMIM:188000	MASTL	84930	HP:0000978	Bruising susceptibility
OMIM:188000	MASTL	84930	HP:0000006	Autosomal dominant inheritance
OMIM:188000	MASTL	84930	HP:0001873	Thrombocytopenia
OMIM:188000	ANKRD26	22852	HP:0000978	Bruising susceptibility
OMIM:188000	ANKRD26	22852	HP:0000006	Autosomal dominant inheritance
OMIM:188000	ANKRD26	22852	HP:0001873	Thrombocytopenia
OMIM:188000	CYCS	54205	HP:0000978	Bruising susceptibility
OMIM:188000	CYCS	54205	HP:0000006	Autosomal dominant inheritance
OMIM:188000	CYCS	54205	HP:0001873	Thrombocytopenia
OMIM:181450	TBX3	6926	HP:0009882	Short distal phalanx of finger
OMIM:181450	TBX3	6926	HP:0002025	Anal stenosis
OMIM:181450	TBX3	6926	HP:0001163	Abnormality of the metacarpal bones
OMIM:181450	TBX3	6926	HP:0009804	Reduced number of teeth
OMIM:181450	TBX3	6926	HP:0001629	Ventricular septal defect
OMIM:181450	TBX3	6926	HP:0001231	Abnormality of the fingernails
OMIM:181450	TBX3	6926	HP:0005792	Short humerus
OMIM:181450	TBX3	6926	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:181450	TBX3	6926	HP:0011362	Abnormal hair quantity
OMIM:181450	TBX3	6926	HP:0100490	Camptodactyly of finger
OMIM:181450	TBX3	6926	HP:0000049	Shawl scrotum
OMIM:181450	TBX3	6926	HP:0001513	Obesity
OMIM:181450	TBX3	6926	HP:0000008	Abnormality of female internal genitalia
OMIM:181450	TBX3	6926	HP:0000054	Micropenis
OMIM:181450	TBX3	6926	HP:0001162	Postaxial hand polydactyly
OMIM:181450	TBX3	6926	HP:0002021	Pyloric stenosis
OMIM:181450	TBX3	6926	HP:0008678	Renal hypoplasia/aplasia
OMIM:181450	TBX3	6926	HP:0003974	Absent radius
OMIM:181450	TBX3	6926	HP:0002557	Hypoplastic nipples
OMIM:181450	TBX3	6926	HP:0001171	Split hand
OMIM:181450	TBX3	6926	HP:0008736	Hypoplasia of penis
OMIM:181450	TBX3	6926	HP:0001601	Laryngomalacia
OMIM:181450	TBX3	6926	HP:0000023	Inguinal hernia
OMIM:181450	TBX3	6926	HP:0003019	Abnormality of the wrist
OMIM:181450	TBX3	6926	HP:0003063	Abnormality of the humerus
OMIM:181450	TBX3	6926	HP:0002984	Hypoplasia of the radius
OMIM:181450	TBX3	6926	HP:0000144	Decreased fertility
OMIM:181450	TBX3	6926	HP:0000668	Hypodontia
OMIM:181450	TBX3	6926	HP:0001800	Hypoplastic toenails
OMIM:181450	TBX3	6926	HP:0003022	Hypoplasia of the ulna
OMIM:181450	TBX3	6926	HP:0011675	Arrhythmia
OMIM:181450	TBX3	6926	HP:0004322	Short stature
OMIM:181450	TBX3	6926	HP:0000028	Cryptorchidism
OMIM:181450	TBX3	6926	HP:0000966	Hypohidrosis
OMIM:181450	TBX3	6926	HP:0000912	Sprengel anomaly
OMIM:181450	TBX3	6926	HP:0002215	Sparse axillary hair
OMIM:181450	TBX3	6926	HP:0005338	Sparse lateral eyebrow
OMIM:181450	TBX3	6926	HP:0004299	Hernia of the abdominal wall
OMIM:181450	TBX3	6926	HP:0000894	Short clavicles
OMIM:181450	TBX3	6926	HP:0000768	Pectus carinatum
OMIM:181450	TBX3	6926	HP:0000006	Autosomal dominant inheritance
OMIM:181450	TBX3	6926	HP:0100589	Urogenital fistula
OMIM:181450	TBX3	6926	HP:0002023	Anal atresia
OMIM:181450	TBX3	6926	HP:0000882	Hypoplastic scapulae
OMIM:302060	TAZ	6901	HP:0000311	Round face
OMIM:302060	TAZ	6901	HP:0000303	Mandibular prognathia
OMIM:302060	TAZ	6901	HP:0001639	Hypertrophic cardiomyopathy
OMIM:302060	TAZ	6901	HP:0001875	Neutropenia
OMIM:302060	TAZ	6901	HP:0003011	Abnormality of the musculature
OMIM:302060	TAZ	6901	HP:0001913	Granulocytopenia
OMIM:302060	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:302060	TAZ	6901	HP:0001706	Endocardial fibroelastosis
OMIM:302060	TAZ	6901	HP:0000490	Deeply set eye
OMIM:302060	TAZ	6901	HP:0001270	Motor delay
OMIM:302060	TAZ	6901	HP:0001508	Failure to thrive
OMIM:302060	TAZ	6901	HP:0001288	Gait disturbance
OMIM:302060	TAZ	6901	HP:0003546	Exercise intolerance
OMIM:302060	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:302060	TAZ	6901	HP:0000293	Full cheeks
OMIM:302060	TAZ	6901	HP:0011675	Arrhythmia
OMIM:302060	TAZ	6901	HP:0001510	Growth delay
OMIM:302060	TAZ	6901	HP:0004306	Abnormality of the endocardium
OMIM:302060	TAZ	6901	HP:0000400	Macrotia
OMIM:302060	TAZ	6901	HP:0001874	Abnormality of neutrophils
OMIM:302060	TAZ	6901	HP:0001419	X-linked recessive inheritance
OMIM:302060	TAZ	6901	HP:0001762	Talipes equinovarus
OMIM:253260	BTD	686	HP:0000988	Skin rash
OMIM:253260	BTD	686	HP:0001051	Seborrheic dermatitis
OMIM:253260	BTD	686	HP:0002240	Hepatomegaly
OMIM:253260	BTD	686	HP:0001744	Splenomegaly
OMIM:253260	BTD	686	HP:0001276	Hypertonia
OMIM:253260	BTD	686	HP:0200042	Skin ulcer
OMIM:253260	BTD	686	HP:0000572	Visual loss
OMIM:253260	BTD	686	HP:0001123	Visual field defect
OMIM:253260	BTD	686	HP:0001324	Muscle weakness
OMIM:253260	BTD	686	HP:0001250	Seizures
OMIM:253260	BTD	686	HP:0001254	Lethargy
OMIM:253260	BTD	686	HP:0001251	Ataxia
OMIM:253260	BTD	686	HP:0001596	Alopecia
OMIM:253260	BTD	686	HP:0000648	Optic atrophy
OMIM:253260	BTD	686	HP:0001992	Organic aciduria
OMIM:253260	BTD	686	HP:0002013	Vomiting
OMIM:253260	BTD	686	HP:0002311	Incoordination
OMIM:253260	BTD	686	HP:0004372	Reduced consciousness/confusion
OMIM:253260	BTD	686	HP:0000509	Conjunctivitis
OMIM:253260	BTD	686	HP:0000545	Myopia
OMIM:253260	BTD	686	HP:0001987	Hyperammonemia
OMIM:253260	BTD	686	HP:0001263	Global developmental delay
OMIM:253260	BTD	686	HP:0008872	Feeding difficulties in infancy
OMIM:253260	BTD	686	HP:0100533	Inflammatory abnormality of the eye
OMIM:253260	BTD	686	HP:0001252	Muscular hypotonia
OMIM:253260	BTD	686	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:253260	BTD	686	HP:0007703	Abnormality of retinal pigmentation
OMIM:253260	BTD	686	HP:0000958	Dry skin
OMIM:253260	BTD	686	HP:0001581	Recurrent skin infections
OMIM:253260	BTD	686	HP:0000007	Autosomal recessive inheritance
OMIM:253260	BTD	686	HP:0002789	Tachypnea
OMIM:253260	BTD	686	HP:0002093	Respiratory insufficiency
OMIM:253260	BTD	686	HP:0002104	Apnea
OMIM:253260	BTD	686	HP:0002014	Diarrhea
OMIM:253260	BTD	686	HP:0000365	Hearing impairment
OMIM:253260	BTD	686	HP:0005979	Metabolic ketoacidosis
OMIM:253260	BTD	686	HP:0000407	Sensorineural hearing impairment
OMIM:212112	LMNA	4000	HP:0000826	Precocious puberty
OMIM:212112	LMNA	4000	HP:0000815	Hypergonadotropic hypogonadism
OMIM:212112	LMNA	4000	HP:0011362	Abnormal hair quantity
OMIM:212112	LMNA	4000	HP:0001653	Mitral regurgitation
OMIM:212112	LMNA	4000	HP:0000366	Abnormality of the nose
OMIM:212112	LMNA	4000	HP:0001639	Hypertrophic cardiomyopathy
OMIM:212112	LMNA	4000	HP:0001249	Intellectual disability
OMIM:212112	LMNA	4000	HP:0000508	Ptosis
OMIM:212112	LMNA	4000	HP:0000147	Polycystic ovaries
OMIM:212112	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:212112	LMNA	4000	HP:0200021	Down-sloping shoulders
OMIM:212112	LMNA	4000	HP:0000007	Autosomal recessive inheritance
OMIM:212112	LMNA	4000	HP:0009125	Lipodystrophy
OMIM:212112	LMNA	4000	HP:0000278	Retrognathia
OMIM:212112	LMNA	4000	HP:0000894	Short clavicles
OMIM:212112	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:615493	ANK3	288	HP:0001257	Spasticity
OMIM:615493	ANK3	288	HP:0000007	Autosomal recessive inheritance
OMIM:615493	ANK3	288	HP:0002360	Sleep disturbance
OMIM:615493	ANK3	288	HP:0000752	Hyperactivity
OMIM:615493	ANK3	288	HP:0001249	Intellectual disability
OMIM:615493	ANK3	288	HP:0001250	Seizures
OMIM:615493	ANK3	288	HP:0000718	Aggressive behavior
OMIM:615493	ANK3	288	HP:0001252	Muscular hypotonia
OMIM:610003	CLN8	2055	HP:0001250	Seizures
OMIM:610003	CLN8	2055	HP:0003677	Slow progression
OMIM:610003	CLN8	2055	HP:0000007	Autosomal recessive inheritance
OMIM:610003	CLN8	2055	HP:0002353	EEG abnormality
OMIM:610003	CLN8	2055	HP:0001249	Intellectual disability
OMIM:610003	CLN8	2055	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:610003	CLN8	2055	HP:0000711	Restlessness
OMIM:610003	CLN8	2055	HP:0001272	Cerebellar atrophy
OMIM:610003	CLN8	2055	HP:0002059	Cerebral atrophy
OMIM:610003	CLN8	2055	HP:0000505	Visual impairment
OMIM:610003	CLN8	2055	HP:0000737	Irritability
OMIM:610003	CLN8	2055	HP:0001268	Mental deterioration
OMIM:610003	CLN8	2055	HP:0002069	Generalized tonic-clonic seizures
OMIM:226700	LAMA3	3909	HP:0001508	Failure to thrive
OMIM:226700	LAMA3	3909	HP:0000670	Carious teeth
OMIM:226700	LAMA3	3909	HP:0001806	Onycholysis
OMIM:226700	LAMA3	3909	HP:0000007	Autosomal recessive inheritance
OMIM:226700	LAMA3	3909	HP:0008404	Nail dystrophy
OMIM:226700	LAMA3	3909	HP:0000163	Abnormality of the oral cavity
OMIM:226700	LAMA3	3909	HP:0200042	Skin ulcer
OMIM:226700	LAMA3	3909	HP:0006297	Hypoplasia of dental enamel
OMIM:226700	LAMA3	3909	HP:0001522	Death in infancy
OMIM:226700	LAMA3	3909	HP:0001231	Abnormality of the fingernails
OMIM:226700	LAMA3	3909	HP:0003577	Congenital onset
OMIM:226700	LAMA3	3909	HP:0006101	Finger syndactyly
OMIM:226700	LAMA3	3909	HP:0002021	Pyloric stenosis
OMIM:226700	LAMA3	3909	HP:0002164	Nail dysplasia
OMIM:226700	LAMA3	3909	HP:0001075	Atrophic scars
OMIM:226700	LAMA3	3909	HP:0001596	Alopecia
OMIM:226700	LAMA3	3909	HP:0001770	Toe syndactyly
OMIM:226700	LAMA3	3909	HP:0001944	Dehydration
OMIM:226700	LAMB3	3914	HP:0001508	Failure to thrive
OMIM:226700	LAMB3	3914	HP:0000670	Carious teeth
OMIM:226700	LAMB3	3914	HP:0001806	Onycholysis
OMIM:226700	LAMB3	3914	HP:0000007	Autosomal recessive inheritance
OMIM:226700	LAMB3	3914	HP:0008404	Nail dystrophy
OMIM:226700	LAMB3	3914	HP:0000163	Abnormality of the oral cavity
OMIM:226700	LAMB3	3914	HP:0200042	Skin ulcer
OMIM:226700	LAMB3	3914	HP:0006297	Hypoplasia of dental enamel
OMIM:226700	LAMB3	3914	HP:0001522	Death in infancy
OMIM:226700	LAMB3	3914	HP:0001231	Abnormality of the fingernails
OMIM:226700	LAMB3	3914	HP:0003577	Congenital onset
OMIM:226700	LAMB3	3914	HP:0006101	Finger syndactyly
OMIM:226700	LAMB3	3914	HP:0002021	Pyloric stenosis
OMIM:226700	LAMB3	3914	HP:0002164	Nail dysplasia
OMIM:226700	LAMB3	3914	HP:0001075	Atrophic scars
OMIM:226700	LAMB3	3914	HP:0001596	Alopecia
OMIM:226700	LAMB3	3914	HP:0001770	Toe syndactyly
OMIM:226700	LAMB3	3914	HP:0001944	Dehydration
OMIM:226700	LAMC2	3918	HP:0001508	Failure to thrive
OMIM:226700	LAMC2	3918	HP:0000670	Carious teeth
OMIM:226700	LAMC2	3918	HP:0001806	Onycholysis
OMIM:226700	LAMC2	3918	HP:0000007	Autosomal recessive inheritance
OMIM:226700	LAMC2	3918	HP:0008404	Nail dystrophy
OMIM:226700	LAMC2	3918	HP:0000163	Abnormality of the oral cavity
OMIM:226700	LAMC2	3918	HP:0200042	Skin ulcer
OMIM:226700	LAMC2	3918	HP:0006297	Hypoplasia of dental enamel
OMIM:226700	LAMC2	3918	HP:0001522	Death in infancy
OMIM:226700	LAMC2	3918	HP:0001231	Abnormality of the fingernails
OMIM:226700	LAMC2	3918	HP:0003577	Congenital onset
OMIM:226700	LAMC2	3918	HP:0006101	Finger syndactyly
OMIM:226700	LAMC2	3918	HP:0002021	Pyloric stenosis
OMIM:226700	LAMC2	3918	HP:0002164	Nail dysplasia
OMIM:226700	LAMC2	3918	HP:0001075	Atrophic scars
OMIM:226700	LAMC2	3918	HP:0001596	Alopecia
OMIM:226700	LAMC2	3918	HP:0001770	Toe syndactyly
OMIM:226700	LAMC2	3918	HP:0001944	Dehydration
OMIM:600002	PTH1R	5745	HP:0002652	Skeletal dysplasia
OMIM:600002	PTH1R	5745	HP:0002663	Delayed epiphyseal ossification
OMIM:600002	PTH1R	5745	HP:0000007	Autosomal recessive inheritance
OMIM:311200	OFD1	8481	HP:0002007	Frontal bossing
OMIM:311200	OFD1	8481	HP:0100543	Cognitive impairment
OMIM:311200	OFD1	8481	HP:0000388	Otitis media
OMIM:311200	OFD1	8481	HP:0001156	Brachydactyly syndrome
OMIM:311200	OFD1	8481	HP:0001274	Agenesis of corpus callosum
OMIM:311200	OFD1	8481	HP:0000238	Hydrocephalus
OMIM:311200	OFD1	8481	HP:0001395	Hepatic fibrosis
OMIM:311200	OFD1	8481	HP:0000431	Wide nasal bridge
OMIM:311200	OFD1	8481	HP:0006101	Finger syndactyly
OMIM:311200	OFD1	8481	HP:0000204	Cleft upper lip
OMIM:311200	OFD1	8481	HP:0000316	Hypertelorism
OMIM:311200	OFD1	8481	HP:0000494	Downslanted palpebral fissures
OMIM:311200	OFD1	8481	HP:0001305	Dandy-Walker malformation
OMIM:311200	OFD1	8481	HP:0000689	Dental malocclusion
OMIM:311200	OFD1	8481	HP:0001159	Syndactyly
OMIM:311200	OFD1	8481	HP:0000003	Multicystic kidney dysplasia
OMIM:311200	OFD1	8481	HP:0008368	Tarsal synostosis
OMIM:311200	OFD1	8481	HP:0001829	Foot polydactyly
OMIM:311200	OFD1	8481	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:311200	OFD1	8481	HP:0001177	Preaxial hand polydactyly
OMIM:311200	OFD1	8481	HP:0000218	High palate
OMIM:311200	OFD1	8481	HP:0002311	Incoordination
OMIM:311200	OFD1	8481	HP:0004322	Short stature
OMIM:311200	OFD1	8481	HP:0000506	Telecanthus
OMIM:311200	OFD1	8481	HP:0001627	Abnormal heart morphology
OMIM:311200	OFD1	8481	HP:0009466	Radial deviation of finger
OMIM:311200	OFD1	8481	HP:0000682	Abnormality of dental enamel
OMIM:311200	OFD1	8481	HP:0002132	Porencephaly
OMIM:311200	OFD1	8481	HP:0002208	Coarse hair
OMIM:311200	OFD1	8481	HP:0004209	Clinodactyly of the 5th finger
OMIM:311200	OFD1	8481	HP:0006297	Hypoplasia of dental enamel
OMIM:311200	OFD1	8481	HP:0001831	Short toe
OMIM:311200	OFD1	8481	HP:0004349	Reduced bone mineral density
OMIM:311200	OFD1	8481	HP:0000093	Proteinuria
OMIM:311200	OFD1	8481	HP:0001780	Abnormality of toe
OMIM:311200	OFD1	8481	HP:0002281	Gray matter heterotopias
OMIM:311200	OFD1	8481	HP:0000822	Hypertension
OMIM:311200	OFD1	8481	HP:0000324	Facial asymmetry
OMIM:311200	OFD1	8481	HP:0000670	Carious teeth
OMIM:311200	OFD1	8481	HP:0001249	Intellectual disability
OMIM:311200	OFD1	8481	HP:0000430	Underdeveloped nasal alae
OMIM:311200	OFD1	8481	HP:0000286	Epicanthus
OMIM:311200	OFD1	8481	HP:0000365	Hearing impairment
OMIM:311200	OFD1	8481	HP:0000175	Cleft palate
OMIM:311200	OFD1	8481	HP:0001407	Hepatic cysts
OMIM:311200	OFD1	8481	HP:0001162	Postaxial hand polydactyly
OMIM:311200	OFD1	8481	HP:0000453	Choanal atresia
OMIM:311200	OFD1	8481	HP:0000958	Dry skin
OMIM:311200	OFD1	8481	HP:0000113	Polycystic kidney dysplasia
OMIM:311200	OFD1	8481	HP:0006706	Cystic liver disease
OMIM:311200	OFD1	8481	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:311200	OFD1	8481	HP:0010579	Cone-shaped epiphysis
OMIM:311200	OFD1	8481	HP:0000369	Low-set ears
OMIM:311200	OFD1	8481	HP:0001596	Alopecia
OMIM:311200	OFD1	8481	HP:0001250	Seizures
OMIM:311200	OFD1	8481	HP:0009804	Reduced number of teeth
OMIM:311200	OFD1	8481	HP:0003577	Congenital onset
OMIM:311200	OFD1	8481	HP:0000347	Micrognathia
OMIM:311200	OFD1	8481	HP:0002910	Elevated hepatic transaminases
OMIM:311200	OFD1	8481	HP:0008070	Sparse hair
OMIM:311200	OFD1	8481	HP:0005288	Abnormality of the nares
OMIM:311200	OFD1	8481	HP:0030084	Clinodactyly
OMIM:311200	OFD1	8481	HP:0001423	X-linked dominant inheritance
OMIM:311200	OFD1	8481	HP:0002536	Abnormal cortical gyration
OMIM:311200	OFD1	8481	HP:0010442	Polydactyly
OMIM:311200	OFD1	8481	HP:0001337	Tremor
OMIM:311200	OFD1	8481	HP:0000161	Median cleft lip
OMIM:311200	OFD1	8481	HP:0006349	Agenesis of permanent teeth
OMIM:311200	OFD1	8481	HP:0002617	Aneurysm
OMIM:311200	OFD1	8481	HP:0000252	Microcephaly
OMIM:311200	OFD1	8481	HP:0000083	Renal insufficiency
OMIM:311200	OFD1	8481	HP:0000138	Ovarian cyst
OMIM:311200	OFD1	8481	HP:0000308	Microretrognathia
OMIM:311200	OFD1	8481	HP:0001317	Abnormality of the cerebellum
OMIM:615360	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:615360	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:615360	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:615360	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:615360	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:615360	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:615360	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:615360	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:615360	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:615360	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:615360	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:615360	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:615360	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:615360	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:615360	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:615360	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:615360	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:615360	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:615360	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:218340	C12ORF57	113246	HP:0000316	Hypertelorism
OMIM:218340	C12ORF57	113246	HP:0001274	Agenesis of corpus callosum
OMIM:218340	C12ORF57	113246	HP:0001256	Intellectual disability, mild
OMIM:218340	C12ORF57	113246	HP:0000444	Convex nasal ridge
OMIM:218340	C12ORF57	113246	HP:0100543	Cognitive impairment
OMIM:218340	C12ORF57	113246	HP:0000007	Autosomal recessive inheritance
OMIM:218340	C12ORF57	113246	HP:0000347	Micrognathia
OMIM:218340	C12ORF57	113246	HP:0000545	Myopia
OMIM:218340	C12ORF57	113246	HP:0001156	Brachydactyly syndrome
OMIM:218340	C12ORF57	113246	HP:0001263	Global developmental delay
OMIM:218340	C12ORF57	113246	HP:0001831	Short toe
OMIM:218340	C12ORF57	113246	HP:0000256	Macrocephaly
OMIM:218340	C12ORF57	113246	HP:0003593	Infantile onset
OMIM:218340	C12ORF57	113246	HP:0001762	Talipes equinovarus
OMIM:218340	C12ORF57	113246	HP:0001252	Muscular hypotonia
OMIM:218340	C12ORF57	113246	HP:0002007	Frontal bossing
OMIM:218340	C12ORF57	113246	HP:0002827	Hip dislocation
OMIM:218340	C12ORF57	113246	HP:0000678	Dental crowding
OMIM:218340	C12ORF57	113246	HP:0001382	Joint hypermobility
OMIM:218340	C12ORF57	113246	HP:0001083	Ectopia lentis
OMIM:218340	C12ORF57	113246	HP:0000268	Dolichocephaly
OMIM:218340	C12ORF57	113246	HP:0000179	Thick lower lip vermilion
OMIM:218340	C12ORF57	113246	HP:0001724	Aortic dilatation
OMIM:218340	C12ORF57	113246	HP:0001763	Pes planus
OMIM:218340	C12ORF57	113246	HP:0001659	Aortic regurgitation
OMIM:218340	C12ORF57	113246	HP:0000280	Coarse facial features
OMIM:218340	C12ORF57	113246	HP:0002119	Ventriculomegaly
OMIM:218340	C12ORF57	113246	HP:0000685	Hypoplasia of teeth
OMIM:218340	C12ORF57	113246	HP:0000612	Iris coloboma
OMIM:218340	C12ORF57	113246	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:218340	C12ORF57	113246	HP:0000174	Abnormality of the palate
OMIM:218340	C12ORF57	113246	HP:0000369	Low-set ears
OMIM:218340	C12ORF57	113246	HP:0000368	Low-set, posteriorly rotated ears
OMIM:218340	C12ORF57	113246	HP:0000494	Downslanted palpebral fissures
OMIM:218340	C12ORF57	113246	HP:0000506	Telecanthus
OMIM:218340	C12ORF57	113246	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:218340	C12ORF57	113246	HP:0002970	Genu varum
OMIM:218340	C12ORF57	113246	HP:0002553	Highly arched eyebrow
OMIM:218340	C12ORF57	113246	HP:0000567	Chorioretinal coloboma
OMIM:218340	C12ORF57	113246	HP:0004209	Clinodactyly of the 5th finger
OMIM:218340	C12ORF57	113246	HP:0000276	Long face
OMIM:218340	C12ORF57	113246	HP:0001250	Seizures
OMIM:218340	C12ORF57	113246	HP:0000324	Facial asymmetry
OMIM:218340	C12ORF57	113246	HP:0000343	Long philtrum
OMIM:614850	TRAF3	7187	HP:0000006	Autosomal dominant inheritance
OMIM:614850	TRAF3	7187	HP:0012302	Herpes simplex encephalitis
OMIM:614850	TRAF3	7187	HP:0000007	Autosomal recessive inheritance
OMIM:614850	TICAM1	148022	HP:0000006	Autosomal dominant inheritance
OMIM:614850	TICAM1	148022	HP:0012302	Herpes simplex encephalitis
OMIM:614850	TICAM1	148022	HP:0000007	Autosomal recessive inheritance
OMIM:614850	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:614850	TBK1	29110	HP:0012302	Herpes simplex encephalitis
OMIM:614850	TBK1	29110	HP:0000007	Autosomal recessive inheritance
OMIM:614850	UNC93B1	81622	HP:0000006	Autosomal dominant inheritance
OMIM:614850	UNC93B1	81622	HP:0012302	Herpes simplex encephalitis
OMIM:614850	UNC93B1	81622	HP:0000007	Autosomal recessive inheritance
OMIM:614850	TLR3	7098	HP:0000006	Autosomal dominant inheritance
OMIM:614850	TLR3	7098	HP:0012302	Herpes simplex encephalitis
OMIM:614850	TLR3	7098	HP:0000007	Autosomal recessive inheritance
OMIM:613587	RP1L1	94137	HP:0007924	Slow decrease in visual acuity
OMIM:613587	RP1L1	94137	HP:0000006	Autosomal dominant inheritance
ORPHANET:352723	LYST	1130	HP:0002071	Abnormality of extrapyramidal motor function
ORPHANET:352723	LYST	1130	HP:0000225	Gingival bleeding
ORPHANET:352723	LYST	1130	HP:0001276	Hypertonia
ORPHANET:352723	LYST	1130	HP:0001928	Abnormality of coagulation
ORPHANET:352723	LYST	1130	HP:0000421	Epistaxis
ORPHANET:352723	LYST	1130	HP:0002311	Incoordination
ORPHANET:352723	LYST	1130	HP:0100543	Cognitive impairment
ORPHANET:352723	LYST	1130	HP:0007513	Generalized hypopigmentation
ORPHANET:352723	LYST	1130	HP:0100022	Abnormality of movement
ORPHANET:352723	LYST	1130	HP:0009830	Peripheral neuropathy
ORPHANET:352723	LYST	1130	HP:0000978	Bruising susceptibility
ORPHANET:352723	LYST	1130	HP:0200042	Skin ulcer
ORPHANET:352723	LYST	1130	HP:0001107	Ocular albinism
ORPHANET:352723	LYST	1130	HP:0002205	Recurrent respiratory infections
OMIM:133540	ERCC1	2067	HP:0001511	Intrauterine growth retardation
OMIM:133540	ERCC1	2067	HP:0007759	Opacification of the corneal stroma
OMIM:133540	ERCC1	2067	HP:0000958	Dry skin
OMIM:133540	ERCC1	2067	HP:0000486	Strabismus
OMIM:133540	ERCC1	2067	HP:0000685	Hypoplasia of teeth
OMIM:133540	ERCC1	2067	HP:0001249	Intellectual disability
OMIM:133540	ERCC1	2067	HP:0001250	Seizures
OMIM:133540	ERCC1	2067	HP:0001251	Ataxia
OMIM:133540	ERCC1	2067	HP:0008897	Postnatal growth retardation
OMIM:133540	ERCC1	2067	HP:0000822	Hypertension
OMIM:133540	ERCC1	2067	HP:0000303	Mandibular prognathia
OMIM:133540	ERCC1	2067	HP:0000639	Nystagmus
OMIM:133540	ERCC1	2067	HP:0001324	Muscle weakness
OMIM:133540	ERCC1	2067	HP:0001744	Splenomegaly
OMIM:133540	ERCC1	2067	HP:0003510	Severe short stature
OMIM:133540	ERCC1	2067	HP:0002059	Cerebral atrophy
OMIM:133540	ERCC1	2067	HP:0005328	Progeroid facial appearance
OMIM:133540	ERCC1	2067	HP:0000377	Abnormality of the pinna
OMIM:133540	ERCC1	2067	HP:0000407	Sensorineural hearing impairment
OMIM:133540	ERCC1	2067	HP:0000987	Atypical scarring of skin
OMIM:133540	ERCC1	2067	HP:0004334	Dermal atrophy
OMIM:133540	ERCC1	2067	HP:0001518	Small for gestational age
OMIM:133540	ERCC1	2067	HP:0000540	Hypermetropia
OMIM:133540	ERCC1	2067	HP:0001376	Limitation of joint mobility
OMIM:133540	ERCC1	2067	HP:0002808	Kyphosis
OMIM:133540	ERCC1	2067	HP:0008070	Sparse hair
OMIM:133540	ERCC1	2067	HP:0000568	Microphthalmia
OMIM:133540	ERCC1	2067	HP:0000970	Anhidrosis
OMIM:133540	ERCC1	2067	HP:0001337	Tremor
OMIM:133540	ERCC1	2067	HP:0000689	Dental malocclusion
OMIM:133540	ERCC1	2067	HP:0000670	Carious teeth
OMIM:133540	ERCC1	2067	HP:0000762	Decreased nerve conduction velocity
OMIM:133540	ERCC1	2067	HP:0000482	Microcornea
OMIM:133540	ERCC1	2067	HP:0000083	Renal insufficiency
OMIM:133540	ERCC1	2067	HP:0000093	Proteinuria
OMIM:133540	ERCC1	2067	HP:0007352	Cerebellar calcifications
OMIM:133540	ERCC1	2067	HP:0000054	Micropenis
OMIM:133540	ERCC1	2067	HP:0000680	Delayed eruption of primary teeth
OMIM:133540	ERCC1	2067	HP:0011675	Arrhythmia
OMIM:133540	ERCC1	2067	HP:0000992	Cutaneous photosensitivity
OMIM:133540	ERCC1	2067	HP:0000028	Cryptorchidism
OMIM:133540	ERCC1	2067	HP:0001595	Abnormality of the hair
OMIM:133540	ERCC1	2067	HP:0000580	Pigmentary retinopathy
OMIM:133540	ERCC1	2067	HP:0001271	Polyneuropathy
OMIM:133540	ERCC1	2067	HP:0000939	Osteoporosis
OMIM:133540	ERCC1	2067	HP:0001000	Abnormality of skin pigmentation
OMIM:133540	ERCC1	2067	HP:0002135	Basal ganglia calcification
OMIM:133540	ERCC1	2067	HP:0000252	Microcephaly
OMIM:133540	ERCC1	2067	HP:0000518	Cataract
OMIM:133540	ERCC1	2067	HP:0000649	Abnormality of visual evoked potentials
OMIM:133540	ERCC1	2067	HP:0006958	Abnormal auditory evoked potentials
OMIM:133540	ERCC1	2067	HP:0000648	Optic atrophy
OMIM:133540	ERCC1	2067	HP:0000007	Autosomal recessive inheritance
OMIM:133540	ERCC1	2067	HP:0003130	Abnormal peripheral myelination
OMIM:133540	ERCC1	2067	HP:0002684	Thickened calvaria
OMIM:133540	ERCC1	2067	HP:0002240	Hepatomegaly
OMIM:133540	ERCC4	2072	HP:0001511	Intrauterine growth retardation
OMIM:133540	ERCC4	2072	HP:0007759	Opacification of the corneal stroma
OMIM:133540	ERCC4	2072	HP:0000958	Dry skin
OMIM:133540	ERCC4	2072	HP:0000486	Strabismus
OMIM:133540	ERCC4	2072	HP:0000685	Hypoplasia of teeth
OMIM:133540	ERCC4	2072	HP:0001249	Intellectual disability
OMIM:133540	ERCC4	2072	HP:0001250	Seizures
OMIM:133540	ERCC4	2072	HP:0001251	Ataxia
OMIM:133540	ERCC4	2072	HP:0008897	Postnatal growth retardation
OMIM:133540	ERCC4	2072	HP:0000822	Hypertension
OMIM:133540	ERCC4	2072	HP:0000303	Mandibular prognathia
OMIM:133540	ERCC4	2072	HP:0000639	Nystagmus
OMIM:133540	ERCC4	2072	HP:0001324	Muscle weakness
OMIM:133540	ERCC4	2072	HP:0001744	Splenomegaly
OMIM:133540	ERCC4	2072	HP:0003510	Severe short stature
OMIM:133540	ERCC4	2072	HP:0002059	Cerebral atrophy
OMIM:133540	ERCC4	2072	HP:0005328	Progeroid facial appearance
OMIM:133540	ERCC4	2072	HP:0000377	Abnormality of the pinna
OMIM:133540	ERCC4	2072	HP:0000407	Sensorineural hearing impairment
OMIM:133540	ERCC4	2072	HP:0000987	Atypical scarring of skin
OMIM:133540	ERCC4	2072	HP:0004334	Dermal atrophy
OMIM:133540	ERCC4	2072	HP:0001518	Small for gestational age
OMIM:133540	ERCC4	2072	HP:0000540	Hypermetropia
OMIM:133540	ERCC4	2072	HP:0001376	Limitation of joint mobility
OMIM:133540	ERCC4	2072	HP:0002808	Kyphosis
OMIM:133540	ERCC4	2072	HP:0008070	Sparse hair
OMIM:133540	ERCC4	2072	HP:0000568	Microphthalmia
OMIM:133540	ERCC4	2072	HP:0000970	Anhidrosis
OMIM:133540	ERCC4	2072	HP:0001337	Tremor
OMIM:133540	ERCC4	2072	HP:0000689	Dental malocclusion
OMIM:133540	ERCC4	2072	HP:0000670	Carious teeth
OMIM:133540	ERCC4	2072	HP:0000762	Decreased nerve conduction velocity
OMIM:133540	ERCC4	2072	HP:0000482	Microcornea
OMIM:133540	ERCC4	2072	HP:0000083	Renal insufficiency
OMIM:133540	ERCC4	2072	HP:0000093	Proteinuria
OMIM:133540	ERCC4	2072	HP:0007352	Cerebellar calcifications
OMIM:133540	ERCC4	2072	HP:0000054	Micropenis
OMIM:133540	ERCC4	2072	HP:0000680	Delayed eruption of primary teeth
OMIM:133540	ERCC4	2072	HP:0011675	Arrhythmia
OMIM:133540	ERCC4	2072	HP:0000992	Cutaneous photosensitivity
OMIM:133540	ERCC4	2072	HP:0000028	Cryptorchidism
OMIM:133540	ERCC4	2072	HP:0001595	Abnormality of the hair
OMIM:133540	ERCC4	2072	HP:0000580	Pigmentary retinopathy
OMIM:133540	ERCC4	2072	HP:0001271	Polyneuropathy
OMIM:133540	ERCC4	2072	HP:0000939	Osteoporosis
OMIM:133540	ERCC4	2072	HP:0001000	Abnormality of skin pigmentation
OMIM:133540	ERCC4	2072	HP:0002135	Basal ganglia calcification
OMIM:133540	ERCC4	2072	HP:0000252	Microcephaly
OMIM:133540	ERCC4	2072	HP:0000518	Cataract
OMIM:133540	ERCC4	2072	HP:0000649	Abnormality of visual evoked potentials
OMIM:133540	ERCC4	2072	HP:0006958	Abnormal auditory evoked potentials
OMIM:133540	ERCC4	2072	HP:0000648	Optic atrophy
OMIM:133540	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:133540	ERCC4	2072	HP:0003130	Abnormal peripheral myelination
OMIM:133540	ERCC4	2072	HP:0002684	Thickened calvaria
OMIM:133540	ERCC4	2072	HP:0002240	Hepatomegaly
OMIM:133540	ERCC8	1161	HP:0001511	Intrauterine growth retardation
OMIM:133540	ERCC8	1161	HP:0007759	Opacification of the corneal stroma
OMIM:133540	ERCC8	1161	HP:0000958	Dry skin
OMIM:133540	ERCC8	1161	HP:0000486	Strabismus
OMIM:133540	ERCC8	1161	HP:0000685	Hypoplasia of teeth
OMIM:133540	ERCC8	1161	HP:0001249	Intellectual disability
OMIM:133540	ERCC8	1161	HP:0001250	Seizures
OMIM:133540	ERCC8	1161	HP:0001251	Ataxia
OMIM:133540	ERCC8	1161	HP:0008897	Postnatal growth retardation
OMIM:133540	ERCC8	1161	HP:0000822	Hypertension
OMIM:133540	ERCC8	1161	HP:0000303	Mandibular prognathia
OMIM:133540	ERCC8	1161	HP:0000639	Nystagmus
OMIM:133540	ERCC8	1161	HP:0001324	Muscle weakness
OMIM:133540	ERCC8	1161	HP:0001744	Splenomegaly
OMIM:133540	ERCC8	1161	HP:0003510	Severe short stature
OMIM:133540	ERCC8	1161	HP:0002059	Cerebral atrophy
OMIM:133540	ERCC8	1161	HP:0005328	Progeroid facial appearance
OMIM:133540	ERCC8	1161	HP:0000377	Abnormality of the pinna
OMIM:133540	ERCC8	1161	HP:0000407	Sensorineural hearing impairment
OMIM:133540	ERCC8	1161	HP:0000987	Atypical scarring of skin
OMIM:133540	ERCC8	1161	HP:0004334	Dermal atrophy
OMIM:133540	ERCC8	1161	HP:0001518	Small for gestational age
OMIM:133540	ERCC8	1161	HP:0000540	Hypermetropia
OMIM:133540	ERCC8	1161	HP:0001376	Limitation of joint mobility
OMIM:133540	ERCC8	1161	HP:0002808	Kyphosis
OMIM:133540	ERCC8	1161	HP:0008070	Sparse hair
OMIM:133540	ERCC8	1161	HP:0000568	Microphthalmia
OMIM:133540	ERCC8	1161	HP:0000970	Anhidrosis
OMIM:133540	ERCC8	1161	HP:0001337	Tremor
OMIM:133540	ERCC8	1161	HP:0000689	Dental malocclusion
OMIM:133540	ERCC8	1161	HP:0000670	Carious teeth
OMIM:133540	ERCC8	1161	HP:0000762	Decreased nerve conduction velocity
OMIM:133540	ERCC8	1161	HP:0000482	Microcornea
OMIM:133540	ERCC8	1161	HP:0000083	Renal insufficiency
OMIM:133540	ERCC8	1161	HP:0000093	Proteinuria
OMIM:133540	ERCC8	1161	HP:0007352	Cerebellar calcifications
OMIM:133540	ERCC8	1161	HP:0000054	Micropenis
OMIM:133540	ERCC8	1161	HP:0000680	Delayed eruption of primary teeth
OMIM:133540	ERCC8	1161	HP:0011675	Arrhythmia
OMIM:133540	ERCC8	1161	HP:0000992	Cutaneous photosensitivity
OMIM:133540	ERCC8	1161	HP:0000028	Cryptorchidism
OMIM:133540	ERCC8	1161	HP:0001595	Abnormality of the hair
OMIM:133540	ERCC8	1161	HP:0000580	Pigmentary retinopathy
OMIM:133540	ERCC8	1161	HP:0001271	Polyneuropathy
OMIM:133540	ERCC8	1161	HP:0000939	Osteoporosis
OMIM:133540	ERCC8	1161	HP:0001000	Abnormality of skin pigmentation
OMIM:133540	ERCC8	1161	HP:0002135	Basal ganglia calcification
OMIM:133540	ERCC8	1161	HP:0000252	Microcephaly
OMIM:133540	ERCC8	1161	HP:0000518	Cataract
OMIM:133540	ERCC8	1161	HP:0000649	Abnormality of visual evoked potentials
OMIM:133540	ERCC8	1161	HP:0006958	Abnormal auditory evoked potentials
OMIM:133540	ERCC8	1161	HP:0000648	Optic atrophy
OMIM:133540	ERCC8	1161	HP:0000007	Autosomal recessive inheritance
OMIM:133540	ERCC8	1161	HP:0003130	Abnormal peripheral myelination
OMIM:133540	ERCC8	1161	HP:0002684	Thickened calvaria
OMIM:133540	ERCC8	1161	HP:0002240	Hepatomegaly
OMIM:133540	ERCC6	2074	HP:0001511	Intrauterine growth retardation
OMIM:133540	ERCC6	2074	HP:0007759	Opacification of the corneal stroma
OMIM:133540	ERCC6	2074	HP:0000958	Dry skin
OMIM:133540	ERCC6	2074	HP:0000486	Strabismus
OMIM:133540	ERCC6	2074	HP:0000685	Hypoplasia of teeth
OMIM:133540	ERCC6	2074	HP:0001249	Intellectual disability
OMIM:133540	ERCC6	2074	HP:0001250	Seizures
OMIM:133540	ERCC6	2074	HP:0001251	Ataxia
OMIM:133540	ERCC6	2074	HP:0008897	Postnatal growth retardation
OMIM:133540	ERCC6	2074	HP:0000822	Hypertension
OMIM:133540	ERCC6	2074	HP:0000303	Mandibular prognathia
OMIM:133540	ERCC6	2074	HP:0000639	Nystagmus
OMIM:133540	ERCC6	2074	HP:0001324	Muscle weakness
OMIM:133540	ERCC6	2074	HP:0001744	Splenomegaly
OMIM:133540	ERCC6	2074	HP:0003510	Severe short stature
OMIM:133540	ERCC6	2074	HP:0002059	Cerebral atrophy
OMIM:133540	ERCC6	2074	HP:0005328	Progeroid facial appearance
OMIM:133540	ERCC6	2074	HP:0000377	Abnormality of the pinna
OMIM:133540	ERCC6	2074	HP:0000407	Sensorineural hearing impairment
OMIM:133540	ERCC6	2074	HP:0000987	Atypical scarring of skin
OMIM:133540	ERCC6	2074	HP:0004334	Dermal atrophy
OMIM:133540	ERCC6	2074	HP:0001518	Small for gestational age
OMIM:133540	ERCC6	2074	HP:0000540	Hypermetropia
OMIM:133540	ERCC6	2074	HP:0001376	Limitation of joint mobility
OMIM:133540	ERCC6	2074	HP:0002808	Kyphosis
OMIM:133540	ERCC6	2074	HP:0008070	Sparse hair
OMIM:133540	ERCC6	2074	HP:0000568	Microphthalmia
OMIM:133540	ERCC6	2074	HP:0000970	Anhidrosis
OMIM:133540	ERCC6	2074	HP:0001337	Tremor
OMIM:133540	ERCC6	2074	HP:0000689	Dental malocclusion
OMIM:133540	ERCC6	2074	HP:0000670	Carious teeth
OMIM:133540	ERCC6	2074	HP:0000762	Decreased nerve conduction velocity
OMIM:133540	ERCC6	2074	HP:0000482	Microcornea
OMIM:133540	ERCC6	2074	HP:0000083	Renal insufficiency
OMIM:133540	ERCC6	2074	HP:0000093	Proteinuria
OMIM:133540	ERCC6	2074	HP:0007352	Cerebellar calcifications
OMIM:133540	ERCC6	2074	HP:0000054	Micropenis
OMIM:133540	ERCC6	2074	HP:0000680	Delayed eruption of primary teeth
OMIM:133540	ERCC6	2074	HP:0011675	Arrhythmia
OMIM:133540	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:133540	ERCC6	2074	HP:0000028	Cryptorchidism
OMIM:133540	ERCC6	2074	HP:0001595	Abnormality of the hair
OMIM:133540	ERCC6	2074	HP:0000580	Pigmentary retinopathy
OMIM:133540	ERCC6	2074	HP:0001271	Polyneuropathy
OMIM:133540	ERCC6	2074	HP:0000939	Osteoporosis
OMIM:133540	ERCC6	2074	HP:0001000	Abnormality of skin pigmentation
OMIM:133540	ERCC6	2074	HP:0002135	Basal ganglia calcification
OMIM:133540	ERCC6	2074	HP:0000252	Microcephaly
OMIM:133540	ERCC6	2074	HP:0000518	Cataract
OMIM:133540	ERCC6	2074	HP:0000649	Abnormality of visual evoked potentials
OMIM:133540	ERCC6	2074	HP:0006958	Abnormal auditory evoked potentials
OMIM:133540	ERCC6	2074	HP:0000648	Optic atrophy
OMIM:133540	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:133540	ERCC6	2074	HP:0003130	Abnormal peripheral myelination
OMIM:133540	ERCC6	2074	HP:0002684	Thickened calvaria
OMIM:133540	ERCC6	2074	HP:0002240	Hepatomegaly
OMIM:186830	CD3E	916	HP:0000006	Autosomal dominant inheritance
OMIM:186830	CD3E	916	HP:0002721	Immunodeficiency
OMIM:601412	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:601412	DIAPH1	1729	HP:0005101	High-frequency hearing impairment
OMIM:601412	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:601412	CEACAM16	388551	HP:0005101	High-frequency hearing impairment
OMIM:601412	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:601412	SLC17A8	246213	HP:0005101	High-frequency hearing impairment
OMIM:601412	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:601412	TJP2	9414	HP:0005101	High-frequency hearing impairment
OMIM:601412	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:601412	ACTG1	71	HP:0005101	High-frequency hearing impairment
OMIM:601412	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601412	CCDC50	152137	HP:0005101	High-frequency hearing impairment
OMIM:601412	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:601412	MIR96	407053	HP:0005101	High-frequency hearing impairment
OMIM:601412	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:601412	GJB2	2706	HP:0005101	High-frequency hearing impairment
OMIM:601412	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:601412	POU4F3	5459	HP:0005101	High-frequency hearing impairment
OMIM:601412	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:601412	GJB3	2707	HP:0005101	High-frequency hearing impairment
OMIM:601412	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:601412	MYH9	4627	HP:0005101	High-frequency hearing impairment
OMIM:601412	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:601412	CRYM	1428	HP:0005101	High-frequency hearing impairment
OMIM:601412	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:601412	COL11A2	1302	HP:0005101	High-frequency hearing impairment
OMIM:601412	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:601412	EYA4	2070	HP:0005101	High-frequency hearing impairment
OMIM:601412	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:601412	DFNA5	1687	HP:0005101	High-frequency hearing impairment
OMIM:601412	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:601412	DIAPH3	81624	HP:0005101	High-frequency hearing impairment
OMIM:601412	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:601412	TMC1	117531	HP:0005101	High-frequency hearing impairment
OMIM:601412	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:601412	COCH	1690	HP:0005101	High-frequency hearing impairment
OMIM:601412	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:601412	OSBPL2	9885	HP:0005101	High-frequency hearing impairment
OMIM:601412	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:601412	SIX1	6495	HP:0005101	High-frequency hearing impairment
OMIM:601412	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:601412	TECTA	7007	HP:0005101	High-frequency hearing impairment
OMIM:601412	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:601412	MYO1A	4640	HP:0005101	High-frequency hearing impairment
OMIM:601412	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:601412	MYO1C	4641	HP:0005101	High-frequency hearing impairment
OMIM:601412	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:601412	MYO6	4646	HP:0005101	High-frequency hearing impairment
OMIM:601412	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:601412	MYO7A	4647	HP:0005101	High-frequency hearing impairment
OMIM:601412	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:601412	GRHL2	79977	HP:0005101	High-frequency hearing impairment
OMIM:601412	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:601412	DIABLO	56616	HP:0005101	High-frequency hearing impairment
OMIM:601412	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:601412	MYH14	79784	HP:0005101	High-frequency hearing impairment
OMIM:601412	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:601412	P2RX2	22953	HP:0005101	High-frequency hearing impairment
OMIM:601412	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:601412	WFS1	7466	HP:0005101	High-frequency hearing impairment
OMIM:601412	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:601412	TNC	3371	HP:0005101	High-frequency hearing impairment
OMIM:601412	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:601412	KCNQ4	9132	HP:0005101	High-frequency hearing impairment
OMIM:601412	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:601412	HOMER2	9455	HP:0005101	High-frequency hearing impairment
OMIM:601412	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:601412	GJB6	10804	HP:0005101	High-frequency hearing impairment
OMIM:601412	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:601412	TBC1D24	57465	HP:0005101	High-frequency hearing impairment
OMIM:608355	RASA1	5921	HP:0003712	Skeletal muscle hypertrophy
OMIM:608355	RASA1	5921	HP:0001635	Congestive heart failure
OMIM:608355	RASA1	5921	HP:0100585	Telangiectasia of the skin
OMIM:608355	RASA1	5921	HP:0005293	Venous insufficiency
OMIM:608355	RASA1	5921	HP:0001928	Abnormality of coagulation
OMIM:608355	RASA1	5921	HP:0002813	Abnormality of limb bone morphology
OMIM:608355	RASA1	5921	HP:0004374	Hemiplegia/hemiparesis
OMIM:608355	RASA1	5921	HP:0000501	Glaucoma
OMIM:608355	RASA1	5921	HP:0002076	Migraine
OMIM:613737	PSEN1	5663	HP:0100838	Recurrent cutaneous abscess formation
OMIM:142470	HBB	3043	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:142470	HBB	3043	HP:0000006	Autosomal dominant inheritance
OMIM:142470	KLF1	10661	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:142470	KLF1	10661	HP:0000006	Autosomal dominant inheritance
OMIM:142470	BCL11A	53335	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:142470	BCL11A	53335	HP:0000006	Autosomal dominant inheritance
OMIM:142470	HBG1	3047	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:142470	HBG1	3047	HP:0000006	Autosomal dominant inheritance
OMIM:142470	HBG2	3048	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:142470	HBG2	3048	HP:0000006	Autosomal dominant inheritance
OMIM:615982	MKKS	8195	HP:0000662	Nyctalopia
OMIM:615982	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615982	MKKS	8195	HP:0001159	Syndactyly
OMIM:615982	MKKS	8195	HP:0000135	Hypogonadism
OMIM:615982	MKKS	8195	HP:0000107	Renal cyst
OMIM:615982	MKKS	8195	HP:0001156	Brachydactyly syndrome
OMIM:615982	MKKS	8195	HP:0010442	Polydactyly
OMIM:615982	MKKS	8195	HP:0003241	External genital hypoplasia
OMIM:615982	MKKS	8195	HP:0000028	Cryptorchidism
OMIM:615982	MKKS	8195	HP:0001513	Obesity
OMIM:615982	MKKS	8195	HP:0001249	Intellectual disability
OMIM:615982	MKKS	8195	HP:0000164	Abnormality of the teeth
OMIM:615982	MKKS	8195	HP:0000546	Retinal degeneration
OMIM:615982	NPHP1	4867	HP:0000662	Nyctalopia
OMIM:615982	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615982	NPHP1	4867	HP:0001159	Syndactyly
OMIM:615982	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:615982	NPHP1	4867	HP:0000107	Renal cyst
OMIM:615982	NPHP1	4867	HP:0001156	Brachydactyly syndrome
OMIM:615982	NPHP1	4867	HP:0010442	Polydactyly
OMIM:615982	NPHP1	4867	HP:0003241	External genital hypoplasia
OMIM:615982	NPHP1	4867	HP:0000028	Cryptorchidism
OMIM:615982	NPHP1	4867	HP:0001513	Obesity
OMIM:615982	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:615982	NPHP1	4867	HP:0000164	Abnormality of the teeth
OMIM:615982	NPHP1	4867	HP:0000546	Retinal degeneration
OMIM:615982	BBIP1	92482	HP:0000662	Nyctalopia
OMIM:615982	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615982	BBIP1	92482	HP:0001159	Syndactyly
OMIM:615982	BBIP1	92482	HP:0000135	Hypogonadism
OMIM:615982	BBIP1	92482	HP:0000107	Renal cyst
OMIM:615982	BBIP1	92482	HP:0001156	Brachydactyly syndrome
OMIM:615982	BBIP1	92482	HP:0010442	Polydactyly
OMIM:615982	BBIP1	92482	HP:0003241	External genital hypoplasia
OMIM:615982	BBIP1	92482	HP:0000028	Cryptorchidism
OMIM:615982	BBIP1	92482	HP:0001513	Obesity
OMIM:615982	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:615982	BBIP1	92482	HP:0000164	Abnormality of the teeth
OMIM:615982	BBIP1	92482	HP:0000546	Retinal degeneration
OMIM:615982	ARL6	84100	HP:0000662	Nyctalopia
OMIM:615982	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615982	ARL6	84100	HP:0001159	Syndactyly
OMIM:615982	ARL6	84100	HP:0000135	Hypogonadism
OMIM:615982	ARL6	84100	HP:0000107	Renal cyst
OMIM:615982	ARL6	84100	HP:0001156	Brachydactyly syndrome
OMIM:615982	ARL6	84100	HP:0010442	Polydactyly
OMIM:615982	ARL6	84100	HP:0003241	External genital hypoplasia
OMIM:615982	ARL6	84100	HP:0000028	Cryptorchidism
OMIM:615982	ARL6	84100	HP:0001513	Obesity
OMIM:615982	ARL6	84100	HP:0001249	Intellectual disability
OMIM:615982	ARL6	84100	HP:0000164	Abnormality of the teeth
OMIM:615982	ARL6	84100	HP:0000546	Retinal degeneration
OMIM:615982	BBS1	582	HP:0000662	Nyctalopia
OMIM:615982	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615982	BBS1	582	HP:0001159	Syndactyly
OMIM:615982	BBS1	582	HP:0000135	Hypogonadism
OMIM:615982	BBS1	582	HP:0000107	Renal cyst
OMIM:615982	BBS1	582	HP:0001156	Brachydactyly syndrome
OMIM:615982	BBS1	582	HP:0010442	Polydactyly
OMIM:615982	BBS1	582	HP:0003241	External genital hypoplasia
OMIM:615982	BBS1	582	HP:0000028	Cryptorchidism
OMIM:615982	BBS1	582	HP:0001513	Obesity
OMIM:615982	BBS1	582	HP:0001249	Intellectual disability
OMIM:615982	BBS1	582	HP:0000164	Abnormality of the teeth
OMIM:615982	BBS1	582	HP:0000546	Retinal degeneration
OMIM:615982	BBS2	583	HP:0000662	Nyctalopia
OMIM:615982	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615982	BBS2	583	HP:0001159	Syndactyly
OMIM:615982	BBS2	583	HP:0000135	Hypogonadism
OMIM:615982	BBS2	583	HP:0000107	Renal cyst
OMIM:615982	BBS2	583	HP:0001156	Brachydactyly syndrome
OMIM:615982	BBS2	583	HP:0010442	Polydactyly
OMIM:615982	BBS2	583	HP:0003241	External genital hypoplasia
OMIM:615982	BBS2	583	HP:0000028	Cryptorchidism
OMIM:615982	BBS2	583	HP:0001513	Obesity
OMIM:615982	BBS2	583	HP:0001249	Intellectual disability
OMIM:615982	BBS2	583	HP:0000164	Abnormality of the teeth
OMIM:615982	BBS2	583	HP:0000546	Retinal degeneration
OMIM:615982	BBS4	585	HP:0000662	Nyctalopia
OMIM:615982	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615982	BBS4	585	HP:0001159	Syndactyly
OMIM:615982	BBS4	585	HP:0000135	Hypogonadism
OMIM:615982	BBS4	585	HP:0000107	Renal cyst
OMIM:615982	BBS4	585	HP:0001156	Brachydactyly syndrome
OMIM:615982	BBS4	585	HP:0010442	Polydactyly
OMIM:615982	BBS4	585	HP:0003241	External genital hypoplasia
OMIM:615982	BBS4	585	HP:0000028	Cryptorchidism
OMIM:615982	BBS4	585	HP:0001513	Obesity
OMIM:615982	BBS4	585	HP:0001249	Intellectual disability
OMIM:615982	BBS4	585	HP:0000164	Abnormality of the teeth
OMIM:615982	BBS4	585	HP:0000546	Retinal degeneration
OMIM:615982	BBS9	27241	HP:0000662	Nyctalopia
OMIM:615982	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615982	BBS9	27241	HP:0001159	Syndactyly
OMIM:615982	BBS9	27241	HP:0000135	Hypogonadism
OMIM:615982	BBS9	27241	HP:0000107	Renal cyst
OMIM:615982	BBS9	27241	HP:0001156	Brachydactyly syndrome
OMIM:615982	BBS9	27241	HP:0010442	Polydactyly
OMIM:615982	BBS9	27241	HP:0003241	External genital hypoplasia
OMIM:615982	BBS9	27241	HP:0000028	Cryptorchidism
OMIM:615982	BBS9	27241	HP:0001513	Obesity
OMIM:615982	BBS9	27241	HP:0001249	Intellectual disability
OMIM:615982	BBS9	27241	HP:0000164	Abnormality of the teeth
OMIM:615982	BBS9	27241	HP:0000546	Retinal degeneration
OMIM:615982	TTC8	123016	HP:0000662	Nyctalopia
OMIM:615982	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615982	TTC8	123016	HP:0001159	Syndactyly
OMIM:615982	TTC8	123016	HP:0000135	Hypogonadism
OMIM:615982	TTC8	123016	HP:0000107	Renal cyst
OMIM:615982	TTC8	123016	HP:0001156	Brachydactyly syndrome
OMIM:615982	TTC8	123016	HP:0010442	Polydactyly
OMIM:615982	TTC8	123016	HP:0003241	External genital hypoplasia
OMIM:615982	TTC8	123016	HP:0000028	Cryptorchidism
OMIM:615982	TTC8	123016	HP:0001513	Obesity
OMIM:615982	TTC8	123016	HP:0001249	Intellectual disability
OMIM:615982	TTC8	123016	HP:0000164	Abnormality of the teeth
OMIM:615982	TTC8	123016	HP:0000546	Retinal degeneration
OMIM:615982	BBS12	166379	HP:0000662	Nyctalopia
OMIM:615982	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615982	BBS12	166379	HP:0001159	Syndactyly
OMIM:615982	BBS12	166379	HP:0000135	Hypogonadism
OMIM:615982	BBS12	166379	HP:0000107	Renal cyst
OMIM:615982	BBS12	166379	HP:0001156	Brachydactyly syndrome
OMIM:615982	BBS12	166379	HP:0010442	Polydactyly
OMIM:615982	BBS12	166379	HP:0003241	External genital hypoplasia
OMIM:615982	BBS12	166379	HP:0000028	Cryptorchidism
OMIM:615982	BBS12	166379	HP:0001513	Obesity
OMIM:615982	BBS12	166379	HP:0001249	Intellectual disability
OMIM:615982	BBS12	166379	HP:0000164	Abnormality of the teeth
OMIM:615982	BBS12	166379	HP:0000546	Retinal degeneration
OMIM:615982	TRIM32	22954	HP:0000662	Nyctalopia
OMIM:615982	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615982	TRIM32	22954	HP:0001159	Syndactyly
OMIM:615982	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:615982	TRIM32	22954	HP:0000107	Renal cyst
OMIM:615982	TRIM32	22954	HP:0001156	Brachydactyly syndrome
OMIM:615982	TRIM32	22954	HP:0010442	Polydactyly
OMIM:615982	TRIM32	22954	HP:0003241	External genital hypoplasia
OMIM:615982	TRIM32	22954	HP:0000028	Cryptorchidism
OMIM:615982	TRIM32	22954	HP:0001513	Obesity
OMIM:615982	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:615982	TRIM32	22954	HP:0000164	Abnormality of the teeth
OMIM:615982	TRIM32	22954	HP:0000546	Retinal degeneration
OMIM:615982	BBS7	55212	HP:0000662	Nyctalopia
OMIM:615982	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615982	BBS7	55212	HP:0001159	Syndactyly
OMIM:615982	BBS7	55212	HP:0000135	Hypogonadism
OMIM:615982	BBS7	55212	HP:0000107	Renal cyst
OMIM:615982	BBS7	55212	HP:0001156	Brachydactyly syndrome
OMIM:615982	BBS7	55212	HP:0010442	Polydactyly
OMIM:615982	BBS7	55212	HP:0003241	External genital hypoplasia
OMIM:615982	BBS7	55212	HP:0000028	Cryptorchidism
OMIM:615982	BBS7	55212	HP:0001513	Obesity
OMIM:615982	BBS7	55212	HP:0001249	Intellectual disability
OMIM:615982	BBS7	55212	HP:0000164	Abnormality of the teeth
OMIM:615982	BBS7	55212	HP:0000546	Retinal degeneration
OMIM:615982	IFT27	11020	HP:0000662	Nyctalopia
OMIM:615982	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615982	IFT27	11020	HP:0001159	Syndactyly
OMIM:615982	IFT27	11020	HP:0000135	Hypogonadism
OMIM:615982	IFT27	11020	HP:0000107	Renal cyst
OMIM:615982	IFT27	11020	HP:0001156	Brachydactyly syndrome
OMIM:615982	IFT27	11020	HP:0010442	Polydactyly
OMIM:615982	IFT27	11020	HP:0003241	External genital hypoplasia
OMIM:615982	IFT27	11020	HP:0000028	Cryptorchidism
OMIM:615982	IFT27	11020	HP:0001513	Obesity
OMIM:615982	IFT27	11020	HP:0001249	Intellectual disability
OMIM:615982	IFT27	11020	HP:0000164	Abnormality of the teeth
OMIM:615982	IFT27	11020	HP:0000546	Retinal degeneration
OMIM:615982	IFT172	26160	HP:0000662	Nyctalopia
OMIM:615982	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615982	IFT172	26160	HP:0001159	Syndactyly
OMIM:615982	IFT172	26160	HP:0000135	Hypogonadism
OMIM:615982	IFT172	26160	HP:0000107	Renal cyst
OMIM:615982	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:615982	IFT172	26160	HP:0010442	Polydactyly
OMIM:615982	IFT172	26160	HP:0003241	External genital hypoplasia
OMIM:615982	IFT172	26160	HP:0000028	Cryptorchidism
OMIM:615982	IFT172	26160	HP:0001513	Obesity
OMIM:615982	IFT172	26160	HP:0001249	Intellectual disability
OMIM:615982	IFT172	26160	HP:0000164	Abnormality of the teeth
OMIM:615982	IFT172	26160	HP:0000546	Retinal degeneration
OMIM:615982	WDPCP	51057	HP:0000662	Nyctalopia
OMIM:615982	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615982	WDPCP	51057	HP:0001159	Syndactyly
OMIM:615982	WDPCP	51057	HP:0000135	Hypogonadism
OMIM:615982	WDPCP	51057	HP:0000107	Renal cyst
OMIM:615982	WDPCP	51057	HP:0001156	Brachydactyly syndrome
OMIM:615982	WDPCP	51057	HP:0010442	Polydactyly
OMIM:615982	WDPCP	51057	HP:0003241	External genital hypoplasia
OMIM:615982	WDPCP	51057	HP:0000028	Cryptorchidism
OMIM:615982	WDPCP	51057	HP:0001513	Obesity
OMIM:615982	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:615982	WDPCP	51057	HP:0000164	Abnormality of the teeth
OMIM:615982	WDPCP	51057	HP:0000546	Retinal degeneration
OMIM:615982	SDCCAG8	10806	HP:0000662	Nyctalopia
OMIM:615982	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615982	SDCCAG8	10806	HP:0001159	Syndactyly
OMIM:615982	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:615982	SDCCAG8	10806	HP:0000107	Renal cyst
OMIM:615982	SDCCAG8	10806	HP:0001156	Brachydactyly syndrome
OMIM:615982	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:615982	SDCCAG8	10806	HP:0003241	External genital hypoplasia
OMIM:615982	SDCCAG8	10806	HP:0000028	Cryptorchidism
OMIM:615982	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615982	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:615982	SDCCAG8	10806	HP:0000164	Abnormality of the teeth
OMIM:615982	SDCCAG8	10806	HP:0000546	Retinal degeneration
OMIM:615982	MKS1	54903	HP:0000662	Nyctalopia
OMIM:615982	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615982	MKS1	54903	HP:0001159	Syndactyly
OMIM:615982	MKS1	54903	HP:0000135	Hypogonadism
OMIM:615982	MKS1	54903	HP:0000107	Renal cyst
OMIM:615982	MKS1	54903	HP:0001156	Brachydactyly syndrome
OMIM:615982	MKS1	54903	HP:0010442	Polydactyly
OMIM:615982	MKS1	54903	HP:0003241	External genital hypoplasia
OMIM:615982	MKS1	54903	HP:0000028	Cryptorchidism
OMIM:615982	MKS1	54903	HP:0001513	Obesity
OMIM:615982	MKS1	54903	HP:0001249	Intellectual disability
OMIM:615982	MKS1	54903	HP:0000164	Abnormality of the teeth
OMIM:615982	MKS1	54903	HP:0000546	Retinal degeneration
OMIM:615982	BBS5	129880	HP:0000662	Nyctalopia
OMIM:615982	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615982	BBS5	129880	HP:0001159	Syndactyly
OMIM:615982	BBS5	129880	HP:0000135	Hypogonadism
OMIM:615982	BBS5	129880	HP:0000107	Renal cyst
OMIM:615982	BBS5	129880	HP:0001156	Brachydactyly syndrome
OMIM:615982	BBS5	129880	HP:0010442	Polydactyly
OMIM:615982	BBS5	129880	HP:0003241	External genital hypoplasia
OMIM:615982	BBS5	129880	HP:0000028	Cryptorchidism
OMIM:615982	BBS5	129880	HP:0001513	Obesity
OMIM:615982	BBS5	129880	HP:0001249	Intellectual disability
OMIM:615982	BBS5	129880	HP:0000164	Abnormality of the teeth
OMIM:615982	BBS5	129880	HP:0000546	Retinal degeneration
OMIM:615982	CEP290	80184	HP:0000662	Nyctalopia
OMIM:615982	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615982	CEP290	80184	HP:0001159	Syndactyly
OMIM:615982	CEP290	80184	HP:0000135	Hypogonadism
OMIM:615982	CEP290	80184	HP:0000107	Renal cyst
OMIM:615982	CEP290	80184	HP:0001156	Brachydactyly syndrome
OMIM:615982	CEP290	80184	HP:0010442	Polydactyly
OMIM:615982	CEP290	80184	HP:0003241	External genital hypoplasia
OMIM:615982	CEP290	80184	HP:0000028	Cryptorchidism
OMIM:615982	CEP290	80184	HP:0001513	Obesity
OMIM:615982	CEP290	80184	HP:0001249	Intellectual disability
OMIM:615982	CEP290	80184	HP:0000164	Abnormality of the teeth
OMIM:615982	CEP290	80184	HP:0000546	Retinal degeneration
OMIM:615982	LZTFL1	54585	HP:0000662	Nyctalopia
OMIM:615982	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615982	LZTFL1	54585	HP:0001159	Syndactyly
OMIM:615982	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:615982	LZTFL1	54585	HP:0000107	Renal cyst
OMIM:615982	LZTFL1	54585	HP:0001156	Brachydactyly syndrome
OMIM:615982	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:615982	LZTFL1	54585	HP:0003241	External genital hypoplasia
OMIM:615982	LZTFL1	54585	HP:0000028	Cryptorchidism
OMIM:615982	LZTFL1	54585	HP:0001513	Obesity
OMIM:615982	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:615982	LZTFL1	54585	HP:0000164	Abnormality of the teeth
OMIM:615982	LZTFL1	54585	HP:0000546	Retinal degeneration
OMIM:615982	BBS10	79738	HP:0000662	Nyctalopia
OMIM:615982	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615982	BBS10	79738	HP:0001159	Syndactyly
OMIM:615982	BBS10	79738	HP:0000135	Hypogonadism
OMIM:615982	BBS10	79738	HP:0000107	Renal cyst
OMIM:615982	BBS10	79738	HP:0001156	Brachydactyly syndrome
OMIM:615982	BBS10	79738	HP:0010442	Polydactyly
OMIM:615982	BBS10	79738	HP:0003241	External genital hypoplasia
OMIM:615982	BBS10	79738	HP:0000028	Cryptorchidism
OMIM:615982	BBS10	79738	HP:0001513	Obesity
OMIM:615982	BBS10	79738	HP:0001249	Intellectual disability
OMIM:615982	BBS10	79738	HP:0000164	Abnormality of the teeth
OMIM:615982	BBS10	79738	HP:0000546	Retinal degeneration
OMIM:146255	GATA3	2625	HP:0000407	Sensorineural hearing impairment
OMIM:146255	GATA3	2625	HP:0001629	Ventricular septal defect
OMIM:146255	GATA3	2625	HP:0000093	Proteinuria
OMIM:146255	GATA3	2625	HP:0000829	Hypoparathyroidism
OMIM:146255	GATA3	2625	HP:0008678	Renal hypoplasia/aplasia
OMIM:146255	GATA3	2625	HP:0007703	Abnormality of retinal pigmentation
OMIM:146255	GATA3	2625	HP:0000508	Ptosis
OMIM:146255	GATA3	2625	HP:0000100	Nephrotic syndrome
OMIM:146255	GATA3	2625	HP:0000639	Nystagmus
OMIM:146255	GATA3	2625	HP:0002901	Hypocalcemia
OMIM:146255	GATA3	2625	HP:0012622	Chronic kidney disease
OMIM:146255	GATA3	2625	HP:0000110	Renal dysplasia
OMIM:146255	GATA3	2625	HP:0001371	Flexion contracture
OMIM:146255	GATA3	2625	HP:0002021	Pyloric stenosis
OMIM:146255	GATA3	2625	HP:0001250	Seizures
OMIM:146255	GATA3	2625	HP:0000708	Behavioral abnormality
OMIM:146255	GATA3	2625	HP:0000076	Vesicoureteral reflux
OMIM:146255	GATA3	2625	HP:0000003	Multicystic kidney dysplasia
OMIM:146255	GATA3	2625	HP:0000006	Autosomal dominant inheritance
OMIM:146255	GATA3	2625	HP:0100542	Abnormal localization of kidney
OMIM:146255	GATA3	2625	HP:0000790	Hematuria
OMIM:610199	GLIS3	169792	HP:0000107	Renal cyst
OMIM:610199	GLIS3	169792	HP:0000819	Diabetes mellitus
OMIM:610199	GLIS3	169792	HP:0000007	Autosomal recessive inheritance
OMIM:610199	GLIS3	169792	HP:0001511	Intrauterine growth retardation
OMIM:610199	GLIS3	169792	HP:0001087	Congenital glaucoma
OMIM:610199	GLIS3	169792	HP:0001396	Cholestasis
OMIM:615179	C10ORF11	83938	HP:0000007	Autosomal recessive inheritance
OMIM:615179	C10ORF11	83938	HP:0001022	Albinism
OMIM:615179	C10ORF11	83938	HP:0000639	Nystagmus
OMIM:615179	C10ORF11	83938	HP:0000613	Photophobia
OMIM:616576	CD19	930	HP:0001878	Hemolytic anemia
OMIM:616576	CD19	930	HP:0001581	Recurrent skin infections
OMIM:616576	CD19	930	HP:0004313	Decreased antibody level in blood
OMIM:616576	CD19	930	HP:0001596	Alopecia
OMIM:616576	CD19	930	HP:0002721	Immunodeficiency
OMIM:616576	CD19	930	HP:0001873	Thrombocytopenia
OMIM:616576	CD19	930	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	TNFRSF13C	115650	HP:0001878	Hemolytic anemia
OMIM:616576	TNFRSF13C	115650	HP:0001581	Recurrent skin infections
OMIM:616576	TNFRSF13C	115650	HP:0004313	Decreased antibody level in blood
OMIM:616576	TNFRSF13C	115650	HP:0001596	Alopecia
OMIM:616576	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:616576	TNFRSF13C	115650	HP:0001873	Thrombocytopenia
OMIM:616576	TNFRSF13C	115650	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	MS4A1	931	HP:0001878	Hemolytic anemia
OMIM:616576	MS4A1	931	HP:0001581	Recurrent skin infections
OMIM:616576	MS4A1	931	HP:0004313	Decreased antibody level in blood
OMIM:616576	MS4A1	931	HP:0001596	Alopecia
OMIM:616576	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:616576	MS4A1	931	HP:0001873	Thrombocytopenia
OMIM:616576	MS4A1	931	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	CR2	1380	HP:0001878	Hemolytic anemia
OMIM:616576	CR2	1380	HP:0001581	Recurrent skin infections
OMIM:616576	CR2	1380	HP:0004313	Decreased antibody level in blood
OMIM:616576	CR2	1380	HP:0001596	Alopecia
OMIM:616576	CR2	1380	HP:0002721	Immunodeficiency
OMIM:616576	CR2	1380	HP:0001873	Thrombocytopenia
OMIM:616576	CR2	1380	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	NFKB1	4790	HP:0001878	Hemolytic anemia
OMIM:616576	NFKB1	4790	HP:0001581	Recurrent skin infections
OMIM:616576	NFKB1	4790	HP:0004313	Decreased antibody level in blood
OMIM:616576	NFKB1	4790	HP:0001596	Alopecia
OMIM:616576	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:616576	NFKB1	4790	HP:0001873	Thrombocytopenia
OMIM:616576	NFKB1	4790	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	TNFSF12	8742	HP:0001878	Hemolytic anemia
OMIM:616576	TNFSF12	8742	HP:0001581	Recurrent skin infections
OMIM:616576	TNFSF12	8742	HP:0004313	Decreased antibody level in blood
OMIM:616576	TNFSF12	8742	HP:0001596	Alopecia
OMIM:616576	TNFSF12	8742	HP:0002721	Immunodeficiency
OMIM:616576	TNFSF12	8742	HP:0001873	Thrombocytopenia
OMIM:616576	TNFSF12	8742	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	TNFRSF13B	23495	HP:0001878	Hemolytic anemia
OMIM:616576	TNFRSF13B	23495	HP:0001581	Recurrent skin infections
OMIM:616576	TNFRSF13B	23495	HP:0004313	Decreased antibody level in blood
OMIM:616576	TNFRSF13B	23495	HP:0001596	Alopecia
OMIM:616576	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:616576	TNFRSF13B	23495	HP:0001873	Thrombocytopenia
OMIM:616576	TNFRSF13B	23495	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	NFKB2	4791	HP:0001878	Hemolytic anemia
OMIM:616576	NFKB2	4791	HP:0001581	Recurrent skin infections
OMIM:616576	NFKB2	4791	HP:0004313	Decreased antibody level in blood
OMIM:616576	NFKB2	4791	HP:0001596	Alopecia
OMIM:616576	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:616576	NFKB2	4791	HP:0001873	Thrombocytopenia
OMIM:616576	NFKB2	4791	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	ICOS	29851	HP:0001878	Hemolytic anemia
OMIM:616576	ICOS	29851	HP:0001581	Recurrent skin infections
OMIM:616576	ICOS	29851	HP:0004313	Decreased antibody level in blood
OMIM:616576	ICOS	29851	HP:0001596	Alopecia
OMIM:616576	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:616576	ICOS	29851	HP:0001873	Thrombocytopenia
OMIM:616576	ICOS	29851	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	LRBA	987	HP:0001878	Hemolytic anemia
OMIM:616576	LRBA	987	HP:0001581	Recurrent skin infections
OMIM:616576	LRBA	987	HP:0004313	Decreased antibody level in blood
OMIM:616576	LRBA	987	HP:0001596	Alopecia
OMIM:616576	LRBA	987	HP:0002721	Immunodeficiency
OMIM:616576	LRBA	987	HP:0001873	Thrombocytopenia
OMIM:616576	LRBA	987	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	PRKCD	5580	HP:0001878	Hemolytic anemia
OMIM:616576	PRKCD	5580	HP:0001581	Recurrent skin infections
OMIM:616576	PRKCD	5580	HP:0004313	Decreased antibody level in blood
OMIM:616576	PRKCD	5580	HP:0001596	Alopecia
OMIM:616576	PRKCD	5580	HP:0002721	Immunodeficiency
OMIM:616576	PRKCD	5580	HP:0001873	Thrombocytopenia
OMIM:616576	PRKCD	5580	HP:0006510	Chronic obstructive pulmonary disease
OMIM:616576	CD81	975	HP:0001878	Hemolytic anemia
OMIM:616576	CD81	975	HP:0001581	Recurrent skin infections
OMIM:616576	CD81	975	HP:0004313	Decreased antibody level in blood
OMIM:616576	CD81	975	HP:0001596	Alopecia
OMIM:616576	CD81	975	HP:0002721	Immunodeficiency
OMIM:616576	CD81	975	HP:0001873	Thrombocytopenia
OMIM:616576	CD81	975	HP:0006510	Chronic obstructive pulmonary disease
OMIM:614231	IER3IP1	51124	HP:0001252	Muscular hypotonia
OMIM:614231	IER3IP1	51124	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614231	IER3IP1	51124	HP:0000819	Diabetes mellitus
OMIM:614231	IER3IP1	51124	HP:0000135	Hypogonadism
OMIM:614231	IER3IP1	51124	HP:0000508	Ptosis
OMIM:614231	IER3IP1	51124	HP:0001263	Global developmental delay
OMIM:614231	IER3IP1	51124	HP:0009879	Cortical gyral simplification
OMIM:614231	IER3IP1	51124	HP:0000007	Autosomal recessive inheritance
OMIM:614231	IER3IP1	51124	HP:0000252	Microcephaly
OMIM:614231	IER3IP1	51124	HP:0012448	Delayed myelination
OMIM:614231	IER3IP1	51124	HP:0002521	Hypsarrhythmia
OMIM:614231	IER3IP1	51124	HP:0002123	Generalized myoclonic seizures
OMIM:278760	ERCC4	2072	HP:0012444	Brain atrophy
OMIM:278760	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:278760	ERCC4	2072	HP:0000252	Microcephaly
OMIM:278760	ERCC4	2072	HP:0008069	Neoplasm of the skin
OMIM:278760	ERCC4	2072	HP:0004322	Short stature
OMIM:278760	ERCC4	2072	HP:0000639	Nystagmus
OMIM:278760	ERCC4	2072	HP:0000992	Cutaneous photosensitivity
OMIM:278760	ERCC4	2072	HP:0000490	Deeply set eye
OMIM:278760	ERCC4	2072	HP:0003812	Phenotypic variability
OMIM:278760	ERCC4	2072	HP:0000483	Astigmatism
OMIM:278760	ERCC4	2072	HP:0001337	Tremor
OMIM:278760	ERCC4	2072	HP:0004325	Decreased body weight
OMIM:278760	ERCC4	2072	HP:0001249	Intellectual disability
OMIM:278760	ERCC4	2072	HP:0001371	Flexion contracture
OMIM:278760	ERCC4	2072	HP:0002650	Scoliosis
OMIM:278760	ERCC4	2072	HP:0000365	Hearing impairment
OMIM:278760	ERCC4	2072	HP:0000726	Dementia
OMIM:278760	ERCC4	2072	HP:0001251	Ataxia
OMIM:179820	REN	5972	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:179820	REN	5972	HP:0000818	Abnormality of the endocrine system
OMIM:179820	REN	5972	HP:0000006	Autosomal dominant inheritance
OMIM:256810	MPV17	4358	HP:0003593	Infantile onset
OMIM:256810	MPV17	4358	HP:0001265	Hyporeflexia
OMIM:256810	MPV17	4358	HP:0001508	Failure to thrive
OMIM:256810	MPV17	4358	HP:0002460	Distal muscle weakness
OMIM:256810	MPV17	4358	HP:0003128	Lactic acidosis
OMIM:256810	MPV17	4358	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:256810	MPV17	4358	HP:0007021	Pain insensitivity
OMIM:256810	MPV17	4358	HP:0002715	Abnormality of the immune system
OMIM:256810	MPV17	4358	HP:0002659	Increased susceptibility to fractures
OMIM:256810	MPV17	4358	HP:0001251	Ataxia
OMIM:256810	MPV17	4358	HP:0002014	Diarrhea
OMIM:256810	MPV17	4358	HP:0000639	Nystagmus
OMIM:256810	MPV17	4358	HP:0004322	Short stature
OMIM:256810	MPV17	4358	HP:0003676	Progressive
OMIM:256810	MPV17	4358	HP:0003812	Phenotypic variability
OMIM:256810	MPV17	4358	HP:0002661	Painless fractures due to injury
OMIM:256810	MPV17	4358	HP:0001263	Global developmental delay
OMIM:256810	MPV17	4358	HP:0001284	Areflexia
OMIM:256810	MPV17	4358	HP:0001332	Dystonia
OMIM:256810	MPV17	4358	HP:0007141	Sensorimotor neuropathy
OMIM:256810	MPV17	4358	HP:0002910	Elevated hepatic transaminases
OMIM:256810	MPV17	4358	HP:0002013	Vomiting
OMIM:256810	MPV17	4358	HP:0000007	Autosomal recessive inheritance
OMIM:256810	MPV17	4358	HP:0002240	Hepatomegaly
OMIM:256810	MPV17	4358	HP:0001760	Abnormality of the foot
OMIM:256810	MPV17	4358	HP:0001252	Muscular hypotonia
OMIM:256810	MPV17	4358	HP:0001394	Cirrhosis
OMIM:256810	MPV17	4358	HP:0006579	Prolonged neonatal jaundice
OMIM:256810	MPV17	4358	HP:0001943	Hypoglycemia
OMIM:603829	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:603829	DPP6	1804	HP:0001663	Ventricular fibrillation
OMIM:257320	RELN	5649	HP:0000426	Prominent nasal bridge
OMIM:257320	RELN	5649	HP:0000340	Sloping forehead
OMIM:257320	RELN	5649	HP:0006891	Thick cerebral cortex
OMIM:257320	RELN	5649	HP:0000252	Microcephaly
OMIM:257320	RELN	5649	HP:0000007	Autosomal recessive inheritance
OMIM:614653	DST	667	HP:0000194	Open mouth
OMIM:614653	DST	667	HP:0001945	Fever
OMIM:614653	DST	667	HP:0001662	Bradycardia
OMIM:614653	DST	667	HP:0000331	Short chin
OMIM:614653	DST	667	HP:0001510	Growth delay
OMIM:614653	DST	667	HP:0000369	Low-set ears
OMIM:614653	DST	667	HP:0001762	Talipes equinovarus
OMIM:614653	DST	667	HP:0000763	Sensory neuropathy
OMIM:614653	DST	667	HP:0001284	Areflexia
OMIM:614653	DST	667	HP:0000007	Autosomal recessive inheritance
OMIM:614653	DST	667	HP:0002093	Respiratory insufficiency
OMIM:614653	DST	667	HP:0002104	Apnea
OMIM:614653	DST	667	HP:0001371	Flexion contracture
OMIM:614653	DST	667	HP:0011968	Feeding difficulties
OMIM:614653	DST	667	HP:0000975	Hyperhidrosis
OMIM:614653	DST	667	HP:0001649	Tachycardia
OMIM:614653	DST	667	HP:0000218	High palate
OMIM:614653	DST	667	HP:0001319	Neonatal hypotonia
OMIM:201250	GDF5	8200	HP:0002983	Micromelia
OMIM:201250	GDF5	8200	HP:0003038	Fibular hypoplasia
OMIM:201250	GDF5	8200	HP:0000007	Autosomal recessive inheritance
OMIM:201250	GDF5	8200	HP:0002650	Scoliosis
OMIM:201250	GDF5	8200	HP:0002986	Radial bowing
OMIM:201250	GDF5	8200	HP:0001376	Limitation of joint mobility
OMIM:201250	GDF5	8200	HP:0003019	Abnormality of the wrist
OMIM:201250	GDF5	8200	HP:0001773	Short foot
OMIM:201250	GDF5	8200	HP:0003022	Hypoplasia of the ulna
OMIM:201250	GDF5	8200	HP:0003042	Elbow dislocation
OMIM:201250	GDF5	8200	HP:0009778	Short thumb
OMIM:201250	GDF5	8200	HP:0100543	Cognitive impairment
OMIM:201250	GDF5	8200	HP:0002167	Neurological speech impairment
OMIM:201250	GDF5	8200	HP:0003272	Abnormality of the hip bone
OMIM:201250	GDF5	8200	HP:0001156	Brachydactyly syndrome
OMIM:201250	GDF5	8200	HP:0005736	Short tibia
OMIM:201250	GDF5	8200	HP:0003028	Abnormality of the ankles
OMIM:201250	GDF5	8200	HP:0002827	Hip dislocation
OMIM:201250	GDF5	8200	HP:0000954	Single transverse palmar crease
OMIM:201250	GDF5	8200	HP:0002984	Hypoplasia of the radius
OMIM:201250	GDF5	8200	HP:0004322	Short stature
OMIM:201250	GDF5	8200	HP:0008368	Tarsal synostosis
OMIM:201250	GDF5	8200	HP:0002999	Patellar dislocation
OMIM:114890	CEACAM5	1048	HP:0000006	Autosomal dominant inheritance
OMIM:114890	CEACAM5	1048	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:114890	CEACAM5	1048	HP:0002664	Neoplasm
OMIM:615163	AIPL1	23746	HP:0000603	Central scotoma
OMIM:615163	AIPL1	23746	HP:0000006	Autosomal dominant inheritance
OMIM:615163	AIPL1	23746	HP:0000613	Photophobia
OMIM:615163	AIPL1	23746	HP:0000543	Optic disc pallor
OMIM:615163	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	PITPNM3	83394	HP:0000603	Central scotoma
OMIM:615163	PITPNM3	83394	HP:0000006	Autosomal dominant inheritance
OMIM:615163	PITPNM3	83394	HP:0000613	Photophobia
OMIM:615163	PITPNM3	83394	HP:0000543	Optic disc pallor
OMIM:615163	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	OPN1LW	5956	HP:0000603	Central scotoma
OMIM:615163	OPN1LW	5956	HP:0000006	Autosomal dominant inheritance
OMIM:615163	OPN1LW	5956	HP:0000613	Photophobia
OMIM:615163	OPN1LW	5956	HP:0000543	Optic disc pallor
OMIM:615163	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	UNC119	9094	HP:0000603	Central scotoma
OMIM:615163	UNC119	9094	HP:0000006	Autosomal dominant inheritance
OMIM:615163	UNC119	9094	HP:0000613	Photophobia
OMIM:615163	UNC119	9094	HP:0000543	Optic disc pallor
OMIM:615163	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	RPGRIP1	57096	HP:0000603	Central scotoma
OMIM:615163	RPGRIP1	57096	HP:0000006	Autosomal dominant inheritance
OMIM:615163	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:615163	RPGRIP1	57096	HP:0000543	Optic disc pallor
OMIM:615163	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	PRPH2	5961	HP:0000603	Central scotoma
OMIM:615163	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:615163	PRPH2	5961	HP:0000613	Photophobia
OMIM:615163	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:615163	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	CACNA1F	778	HP:0000603	Central scotoma
OMIM:615163	CACNA1F	778	HP:0000006	Autosomal dominant inheritance
OMIM:615163	CACNA1F	778	HP:0000613	Photophobia
OMIM:615163	CACNA1F	778	HP:0000543	Optic disc pallor
OMIM:615163	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	PROM1	8842	HP:0000603	Central scotoma
OMIM:615163	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:615163	PROM1	8842	HP:0000613	Photophobia
OMIM:615163	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:615163	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	DRAM2	128338	HP:0000603	Central scotoma
OMIM:615163	DRAM2	128338	HP:0000006	Autosomal dominant inheritance
OMIM:615163	DRAM2	128338	HP:0000613	Photophobia
OMIM:615163	DRAM2	128338	HP:0000543	Optic disc pallor
OMIM:615163	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	CACNA2D4	93589	HP:0000603	Central scotoma
OMIM:615163	CACNA2D4	93589	HP:0000006	Autosomal dominant inheritance
OMIM:615163	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:615163	CACNA2D4	93589	HP:0000543	Optic disc pallor
OMIM:615163	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	RAB28	9364	HP:0000603	Central scotoma
OMIM:615163	RAB28	9364	HP:0000006	Autosomal dominant inheritance
OMIM:615163	RAB28	9364	HP:0000613	Photophobia
OMIM:615163	RAB28	9364	HP:0000543	Optic disc pallor
OMIM:615163	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	RIMS1	22999	HP:0000603	Central scotoma
OMIM:615163	RIMS1	22999	HP:0000006	Autosomal dominant inheritance
OMIM:615163	RIMS1	22999	HP:0000613	Photophobia
OMIM:615163	RIMS1	22999	HP:0000543	Optic disc pallor
OMIM:615163	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	RPGR	6103	HP:0000603	Central scotoma
OMIM:615163	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:615163	RPGR	6103	HP:0000613	Photophobia
OMIM:615163	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:615163	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	ABCA4	24	HP:0000603	Central scotoma
OMIM:615163	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:615163	ABCA4	24	HP:0000613	Photophobia
OMIM:615163	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:615163	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	SEMA4A	64218	HP:0000603	Central scotoma
OMIM:615163	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:615163	SEMA4A	64218	HP:0000613	Photophobia
OMIM:615163	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:615163	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	C8ORF37	157657	HP:0000603	Central scotoma
OMIM:615163	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:615163	C8ORF37	157657	HP:0000613	Photophobia
OMIM:615163	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:615163	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	OPN1MW	2652	HP:0000603	Central scotoma
OMIM:615163	OPN1MW	2652	HP:0000006	Autosomal dominant inheritance
OMIM:615163	OPN1MW	2652	HP:0000613	Photophobia
OMIM:615163	OPN1MW	2652	HP:0000543	Optic disc pallor
OMIM:615163	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	GUCA1A	2978	HP:0000603	Central scotoma
OMIM:615163	GUCA1A	2978	HP:0000006	Autosomal dominant inheritance
OMIM:615163	GUCA1A	2978	HP:0000613	Photophobia
OMIM:615163	GUCA1A	2978	HP:0000543	Optic disc pallor
OMIM:615163	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	RAX2	84839	HP:0000603	Central scotoma
OMIM:615163	RAX2	84839	HP:0000006	Autosomal dominant inheritance
OMIM:615163	RAX2	84839	HP:0000613	Photophobia
OMIM:615163	RAX2	84839	HP:0000543	Optic disc pallor
OMIM:615163	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	CNGA3	1261	HP:0000603	Central scotoma
OMIM:615163	CNGA3	1261	HP:0000006	Autosomal dominant inheritance
OMIM:615163	CNGA3	1261	HP:0000613	Photophobia
OMIM:615163	CNGA3	1261	HP:0000543	Optic disc pallor
OMIM:615163	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	ADAM9	8754	HP:0000603	Central scotoma
OMIM:615163	ADAM9	8754	HP:0000006	Autosomal dominant inheritance
OMIM:615163	ADAM9	8754	HP:0000613	Photophobia
OMIM:615163	ADAM9	8754	HP:0000543	Optic disc pallor
OMIM:615163	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	CDHR1	92211	HP:0000603	Central scotoma
OMIM:615163	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:615163	CDHR1	92211	HP:0000613	Photophobia
OMIM:615163	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:615163	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	TTLL5	23093	HP:0000603	Central scotoma
OMIM:615163	TTLL5	23093	HP:0000006	Autosomal dominant inheritance
OMIM:615163	TTLL5	23093	HP:0000613	Photophobia
OMIM:615163	TTLL5	23093	HP:0000543	Optic disc pallor
OMIM:615163	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	GUCY2D	3000	HP:0000603	Central scotoma
OMIM:615163	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:615163	GUCY2D	3000	HP:0000613	Photophobia
OMIM:615163	GUCY2D	3000	HP:0000543	Optic disc pallor
OMIM:615163	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	POC1B	282809	HP:0000603	Central scotoma
OMIM:615163	POC1B	282809	HP:0000006	Autosomal dominant inheritance
OMIM:615163	POC1B	282809	HP:0000613	Photophobia
OMIM:615163	POC1B	282809	HP:0000543	Optic disc pallor
OMIM:615163	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:615163	CRX	1406	HP:0000603	Central scotoma
OMIM:615163	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:615163	CRX	1406	HP:0000613	Photophobia
OMIM:615163	CRX	1406	HP:0000543	Optic disc pallor
OMIM:615163	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:605259	KCNC3	3748	HP:0001252	Muscular hypotonia
OMIM:605259	KCNC3	3748	HP:0007256	Abnormal pyramidal signs
OMIM:605259	KCNC3	3748	HP:0000006	Autosomal dominant inheritance
OMIM:605259	KCNC3	3748	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:605259	KCNC3	3748	HP:0002066	Gait ataxia
OMIM:605259	KCNC3	3748	HP:0001272	Cerebellar atrophy
OMIM:605259	KCNC3	3748	HP:0002070	Limb ataxia
OMIM:605259	KCNC3	3748	HP:0002406	Limb dysmetria
OMIM:605259	KCNC3	3748	HP:0001270	Motor delay
OMIM:605259	KCNC3	3748	HP:0000639	Nystagmus
OMIM:605259	KCNC3	3748	HP:0001260	Dysarthria
OMIM:605259	KCNC3	3748	HP:0001249	Intellectual disability
OMIM:605259	KCNC3	3748	HP:0003677	Slow progression
OMIM:605259	KCNC3	3748	HP:0001347	Hyperreflexia
OMIM:614097	CAT	847	HP:0000007	Autosomal recessive inheritance
OMIM:615724	HFM1	164045	HP:0000141	Amenorrhea
OMIM:615724	HFM1	164045	HP:0000007	Autosomal recessive inheritance
OMIM:610069	BMPR1A	657	HP:0000006	Autosomal dominant inheritance
OMIM:610069	GREM1	26585	HP:0000006	Autosomal dominant inheritance
OMIM:602398	DHCR24	1718	HP:0009826	Limb undergrowth
OMIM:602398	DHCR24	1718	HP:0011001	Increased bone mineral density
OMIM:602398	DHCR24	1718	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:602398	DHCR24	1718	HP:0000256	Macrocephaly
OMIM:602398	DHCR24	1718	HP:0000252	Microcephaly
OMIM:602398	DHCR24	1718	HP:0000639	Nystagmus
OMIM:602398	DHCR24	1718	HP:0001257	Spasticity
OMIM:602398	DHCR24	1718	HP:0009473	Joint contracture of the hand
OMIM:602398	DHCR24	1718	HP:0000347	Micrognathia
OMIM:602398	DHCR24	1718	HP:0002119	Ventriculomegaly
OMIM:602398	DHCR24	1718	HP:0001250	Seizures
OMIM:602398	DHCR24	1718	HP:0002566	Intestinal malrotation
OMIM:602398	DHCR24	1718	HP:0005280	Depressed nasal bridge
OMIM:602398	DHCR24	1718	HP:0003196	Short nose
OMIM:602398	DHCR24	1718	HP:0001338	Partial agenesis of the corpus callosum
OMIM:602398	DHCR24	1718	HP:0002007	Frontal bossing
OMIM:602398	DHCR24	1718	HP:0000494	Downslanted palpebral fissures
OMIM:602398	DHCR24	1718	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:602398	DHCR24	1718	HP:0001643	Patent ductus arteriosus
OMIM:602398	DHCR24	1718	HP:0000463	Anteverted nares
OMIM:602398	DHCR24	1718	HP:0001776	Bilateral talipes equinovarus
OMIM:602398	DHCR24	1718	HP:0000286	Epicanthus
OMIM:602398	DHCR24	1718	HP:0100543	Cognitive impairment
OMIM:602398	DHCR24	1718	HP:0001263	Global developmental delay
OMIM:602398	DHCR24	1718	HP:0000378	Cupped ear
OMIM:602398	DHCR24	1718	HP:0001508	Failure to thrive
OMIM:602398	DHCR24	1718	HP:0002269	Abnormality of neuronal migration
OMIM:602398	DHCR24	1718	HP:0002804	Arthrogryposis multiplex congenita
OMIM:602398	DHCR24	1718	HP:0000486	Strabismus
OMIM:602398	DHCR24	1718	HP:0008905	Rhizomelia
OMIM:602398	DHCR24	1718	HP:0000368	Low-set, posteriorly rotated ears
OMIM:602398	DHCR24	1718	HP:0000238	Hydrocephalus
OMIM:602398	DHCR24	1718	HP:0001883	Talipes
OMIM:602398	DHCR24	1718	HP:0000175	Cleft palate
OMIM:602398	DHCR24	1718	HP:0001276	Hypertonia
OMIM:602398	DHCR24	1718	HP:0001744	Splenomegaly
OMIM:602398	DHCR24	1718	HP:0004482	Relative macrocephaly
OMIM:602398	DHCR24	1718	HP:0000772	Abnormality of the ribs
OMIM:602398	DHCR24	1718	HP:0000160	Narrow mouth
OMIM:602398	DHCR24	1718	HP:0001511	Intrauterine growth retardation
OMIM:602398	DHCR24	1718	HP:0000062	Ambiguous genitalia
OMIM:602398	DHCR24	1718	HP:0003812	Phenotypic variability
OMIM:602398	DHCR24	1718	HP:0000169	Gingival fibromatosis
OMIM:602398	DHCR24	1718	HP:0008678	Renal hypoplasia/aplasia
OMIM:602398	DHCR24	1718	HP:0000369	Low-set ears
OMIM:602398	DHCR24	1718	HP:0004322	Short stature
OMIM:602398	DHCR24	1718	HP:0000358	Posteriorly rotated ears
OMIM:602398	DHCR24	1718	HP:0003107	Abnormality of cholesterol metabolism
OMIM:602398	DHCR24	1718	HP:0009924	Aplasia/Hypoplasia involving the nose
OMIM:602398	DHCR24	1718	HP:0000007	Autosomal recessive inheritance
OMIM:602398	DHCR24	1718	HP:0009748	Large earlobe
OMIM:233710	NCF2	4688	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233710	NCF2	4688	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233710	NCF2	4688	HP:0002716	Lymphadenopathy
OMIM:233710	NCF2	4688	HP:0002240	Hepatomegaly
OMIM:233710	NCF2	4688	HP:0002840	Lymphadenitis
OMIM:233710	NCF2	4688	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233710	NCF2	4688	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233710	NCF2	4688	HP:0001744	Splenomegaly
OMIM:233710	NCF2	4688	HP:0002742	Recurrent Klebsiella infections
OMIM:233710	NCF2	4688	HP:0002740	Recurrent E. coli infections
OMIM:233710	NCF2	4688	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233710	NCF2	4688	HP:0000976	Eczematoid dermatitis
OMIM:233710	NCF2	4688	HP:0005224	Rectal abscess
OMIM:233710	NCF2	4688	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233710	NCF2	4688	HP:0007417	Discoid lupus erythematosus
OMIM:233710	NCF2	4688	HP:0002724	Recurrent Aspergillus infections
OMIM:233710	NCF2	4688	HP:0006532	Recurrent pneumonia
OMIM:233710	NCF2	4688	HP:0003621	Juvenile onset
OMIM:233710	NCF2	4688	HP:0000007	Autosomal recessive inheritance
OMIM:233710	NCF2	4688	HP:0005406	Recurrent bacterial skin infections
OMIM:233710	NCF2	4688	HP:0002955	Granulomatosis
OMIM:233710	NCF2	4688	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233710	NCF2	4688	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233710	NCF2	4688	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233710	CYBB	1536	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233710	CYBB	1536	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233710	CYBB	1536	HP:0002716	Lymphadenopathy
OMIM:233710	CYBB	1536	HP:0002240	Hepatomegaly
OMIM:233710	CYBB	1536	HP:0002840	Lymphadenitis
OMIM:233710	CYBB	1536	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233710	CYBB	1536	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233710	CYBB	1536	HP:0001744	Splenomegaly
OMIM:233710	CYBB	1536	HP:0002742	Recurrent Klebsiella infections
OMIM:233710	CYBB	1536	HP:0002740	Recurrent E. coli infections
OMIM:233710	CYBB	1536	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233710	CYBB	1536	HP:0000976	Eczematoid dermatitis
OMIM:233710	CYBB	1536	HP:0005224	Rectal abscess
OMIM:233710	CYBB	1536	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233710	CYBB	1536	HP:0007417	Discoid lupus erythematosus
OMIM:233710	CYBB	1536	HP:0002724	Recurrent Aspergillus infections
OMIM:233710	CYBB	1536	HP:0006532	Recurrent pneumonia
OMIM:233710	CYBB	1536	HP:0003621	Juvenile onset
OMIM:233710	CYBB	1536	HP:0000007	Autosomal recessive inheritance
OMIM:233710	CYBB	1536	HP:0005406	Recurrent bacterial skin infections
OMIM:233710	CYBB	1536	HP:0002955	Granulomatosis
OMIM:233710	CYBB	1536	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233710	CYBB	1536	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233710	CYBB	1536	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233710	NCF4	4689	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233710	NCF4	4689	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233710	NCF4	4689	HP:0002716	Lymphadenopathy
OMIM:233710	NCF4	4689	HP:0002240	Hepatomegaly
OMIM:233710	NCF4	4689	HP:0002840	Lymphadenitis
OMIM:233710	NCF4	4689	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233710	NCF4	4689	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233710	NCF4	4689	HP:0001744	Splenomegaly
OMIM:233710	NCF4	4689	HP:0002742	Recurrent Klebsiella infections
OMIM:233710	NCF4	4689	HP:0002740	Recurrent E. coli infections
OMIM:233710	NCF4	4689	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233710	NCF4	4689	HP:0000976	Eczematoid dermatitis
OMIM:233710	NCF4	4689	HP:0005224	Rectal abscess
OMIM:233710	NCF4	4689	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233710	NCF4	4689	HP:0007417	Discoid lupus erythematosus
OMIM:233710	NCF4	4689	HP:0002724	Recurrent Aspergillus infections
OMIM:233710	NCF4	4689	HP:0006532	Recurrent pneumonia
OMIM:233710	NCF4	4689	HP:0003621	Juvenile onset
OMIM:233710	NCF4	4689	HP:0000007	Autosomal recessive inheritance
OMIM:233710	NCF4	4689	HP:0005406	Recurrent bacterial skin infections
OMIM:233710	NCF4	4689	HP:0002955	Granulomatosis
OMIM:233710	NCF4	4689	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233710	NCF4	4689	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233710	NCF4	4689	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233710	NCF1	653361	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233710	NCF1	653361	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233710	NCF1	653361	HP:0002716	Lymphadenopathy
OMIM:233710	NCF1	653361	HP:0002240	Hepatomegaly
OMIM:233710	NCF1	653361	HP:0002840	Lymphadenitis
OMIM:233710	NCF1	653361	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233710	NCF1	653361	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233710	NCF1	653361	HP:0001744	Splenomegaly
OMIM:233710	NCF1	653361	HP:0002742	Recurrent Klebsiella infections
OMIM:233710	NCF1	653361	HP:0002740	Recurrent E. coli infections
OMIM:233710	NCF1	653361	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233710	NCF1	653361	HP:0000976	Eczematoid dermatitis
OMIM:233710	NCF1	653361	HP:0005224	Rectal abscess
OMIM:233710	NCF1	653361	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233710	NCF1	653361	HP:0007417	Discoid lupus erythematosus
OMIM:233710	NCF1	653361	HP:0002724	Recurrent Aspergillus infections
OMIM:233710	NCF1	653361	HP:0006532	Recurrent pneumonia
OMIM:233710	NCF1	653361	HP:0003621	Juvenile onset
OMIM:233710	NCF1	653361	HP:0000007	Autosomal recessive inheritance
OMIM:233710	NCF1	653361	HP:0005406	Recurrent bacterial skin infections
OMIM:233710	NCF1	653361	HP:0002955	Granulomatosis
OMIM:233710	NCF1	653361	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233710	NCF1	653361	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233710	NCF1	653361	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233710	CYBA	1535	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233710	CYBA	1535	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233710	CYBA	1535	HP:0002716	Lymphadenopathy
OMIM:233710	CYBA	1535	HP:0002240	Hepatomegaly
OMIM:233710	CYBA	1535	HP:0002840	Lymphadenitis
OMIM:233710	CYBA	1535	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233710	CYBA	1535	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233710	CYBA	1535	HP:0001744	Splenomegaly
OMIM:233710	CYBA	1535	HP:0002742	Recurrent Klebsiella infections
OMIM:233710	CYBA	1535	HP:0002740	Recurrent E. coli infections
OMIM:233710	CYBA	1535	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233710	CYBA	1535	HP:0000976	Eczematoid dermatitis
OMIM:233710	CYBA	1535	HP:0005224	Rectal abscess
OMIM:233710	CYBA	1535	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233710	CYBA	1535	HP:0007417	Discoid lupus erythematosus
OMIM:233710	CYBA	1535	HP:0002724	Recurrent Aspergillus infections
OMIM:233710	CYBA	1535	HP:0006532	Recurrent pneumonia
OMIM:233710	CYBA	1535	HP:0003621	Juvenile onset
OMIM:233710	CYBA	1535	HP:0000007	Autosomal recessive inheritance
OMIM:233710	CYBA	1535	HP:0005406	Recurrent bacterial skin infections
OMIM:233710	CYBA	1535	HP:0002955	Granulomatosis
OMIM:233710	CYBA	1535	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233710	CYBA	1535	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233710	CYBA	1535	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:612863	ARID1B	57492	HP:0001838	Rocker bottom foot
OMIM:612863	ARID1B	57492	HP:0000368	Low-set, posteriorly rotated ears
OMIM:612863	ARID1B	57492	HP:0000407	Sensorineural hearing impairment
OMIM:612863	ARID1B	57492	HP:0000252	Microcephaly
OMIM:612863	ARID1B	57492	HP:0001357	Plagiocephaly
OMIM:612863	ARID1B	57492	HP:0100490	Camptodactyly of finger
OMIM:612863	ARID1B	57492	HP:0000494	Downslanted palpebral fissures
OMIM:612863	ARID1B	57492	HP:0000431	Wide nasal bridge
OMIM:612863	ARID1B	57492	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:612863	ARID1B	57492	HP:0001250	Seizures
OMIM:612863	ARID1B	57492	HP:0000347	Micrognathia
OMIM:612863	ARID1B	57492	HP:0004209	Clinodactyly of the 5th finger
OMIM:612863	ARID1B	57492	HP:0000078	Abnormality of the genital system
OMIM:612863	ARID1B	57492	HP:0000316	Hypertelorism
OMIM:612863	ARID1B	57492	HP:0000286	Epicanthus
OMIM:612863	ARID1B	57492	HP:0001276	Hypertonia
OMIM:612863	ARID1B	57492	HP:0004322	Short stature
OMIM:612863	ARID1B	57492	HP:0000582	Upslanted palpebral fissure
OMIM:612863	ARID1B	57492	HP:0000175	Cleft palate
OMIM:612863	ARID1B	57492	HP:0000343	Long philtrum
OMIM:612863	ARID1B	57492	HP:0002119	Ventriculomegaly
OMIM:612863	ARID1B	57492	HP:0100543	Cognitive impairment
OMIM:612863	ARID1B	57492	HP:0000272	Malar flattening
OMIM:612863	ARID1B	57492	HP:0001252	Muscular hypotonia
OMIM:211530	SLC52A2	79581	HP:0011449	Knee clonus
OMIM:211530	SLC52A2	79581	HP:0001283	Bulbar palsy
OMIM:211530	SLC52A2	79581	HP:0000007	Autosomal recessive inheritance
OMIM:211530	SLC52A2	79581	HP:0000467	Neck muscle weakness
OMIM:211530	SLC52A2	79581	HP:0000544	External ophthalmoplegia
OMIM:211530	SLC52A2	79581	HP:0002808	Kyphosis
OMIM:211530	SLC52A2	79581	HP:0010628	Facial palsy
OMIM:211530	SLC52A2	79581	HP:0001252	Muscular hypotonia
OMIM:211530	SLC52A2	79581	HP:0009830	Peripheral neuropathy
OMIM:211530	SLC52A2	79581	HP:0000508	Ptosis
OMIM:211530	SLC52A2	79581	HP:0002094	Dyspnea
OMIM:211530	SLC52A2	79581	HP:0002205	Recurrent respiratory infections
OMIM:211530	SLC52A2	79581	HP:0002650	Scoliosis
OMIM:211530	SLC52A2	79581	HP:0001251	Ataxia
OMIM:211530	SLC52A2	79581	HP:0009130	Hand muscle atrophy
OMIM:211530	SLC52A2	79581	HP:0001308	Tongue fasciculations
OMIM:211530	SLC52A2	79581	HP:0000407	Sensorineural hearing impairment
OMIM:211530	SLC52A2	79581	HP:0011448	Ankle clonus
OMIM:211530	SLC52A2	79581	HP:0003676	Progressive
OMIM:211530	SLC52A2	79581	HP:0002015	Dysphagia
OMIM:211530	SLC52A2	79581	HP:0003621	Juvenile onset
OMIM:211530	SLC52A2	79581	HP:0012473	Tongue atrophy
OMIM:211530	SLC52A2	79581	HP:0003701	Proximal muscle weakness
OMIM:211530	SLC52A2	79581	HP:0001605	Vocal cord paralysis
OMIM:211530	SLC52A3	113278	HP:0011449	Knee clonus
OMIM:211530	SLC52A3	113278	HP:0001283	Bulbar palsy
OMIM:211530	SLC52A3	113278	HP:0000007	Autosomal recessive inheritance
OMIM:211530	SLC52A3	113278	HP:0000467	Neck muscle weakness
OMIM:211530	SLC52A3	113278	HP:0000544	External ophthalmoplegia
OMIM:211530	SLC52A3	113278	HP:0002808	Kyphosis
OMIM:211530	SLC52A3	113278	HP:0010628	Facial palsy
OMIM:211530	SLC52A3	113278	HP:0001252	Muscular hypotonia
OMIM:211530	SLC52A3	113278	HP:0009830	Peripheral neuropathy
OMIM:211530	SLC52A3	113278	HP:0000508	Ptosis
OMIM:211530	SLC52A3	113278	HP:0002094	Dyspnea
OMIM:211530	SLC52A3	113278	HP:0002205	Recurrent respiratory infections
OMIM:211530	SLC52A3	113278	HP:0002650	Scoliosis
OMIM:211530	SLC52A3	113278	HP:0001251	Ataxia
OMIM:211530	SLC52A3	113278	HP:0009130	Hand muscle atrophy
OMIM:211530	SLC52A3	113278	HP:0001308	Tongue fasciculations
OMIM:211530	SLC52A3	113278	HP:0000407	Sensorineural hearing impairment
OMIM:211530	SLC52A3	113278	HP:0011448	Ankle clonus
OMIM:211530	SLC52A3	113278	HP:0003676	Progressive
OMIM:211530	SLC52A3	113278	HP:0002015	Dysphagia
OMIM:211530	SLC52A3	113278	HP:0003621	Juvenile onset
OMIM:211530	SLC52A3	113278	HP:0012473	Tongue atrophy
OMIM:211530	SLC52A3	113278	HP:0003701	Proximal muscle weakness
OMIM:211530	SLC52A3	113278	HP:0001605	Vocal cord paralysis
ORPHANET:2792	PAX1	5075	HP:0000912	Sprengel anomaly
ORPHANET:2792	PAX1	5075	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:2792	PAX1	5075	HP:0000405	Conductive hearing impairment
ORPHANET:2792	PAX1	5075	HP:0000463	Anteverted nares
ORPHANET:2792	PAX1	5075	HP:0002750	Delayed skeletal maturation
ORPHANET:2792	PAX1	5075	HP:0004322	Short stature
ORPHANET:2792	PAX1	5075	HP:0009738	Abnormality of the antihelix
ORPHANET:2792	PAX1	5075	HP:0000383	Abnormality of periauricular region
ORPHANET:2792	PAX1	5075	HP:0000174	Abnormality of the palate
ORPHANET:2792	PAX1	5075	HP:0001347	Hyperreflexia
ORPHANET:2792	PAX1	5075	HP:0001276	Hypertonia
ORPHANET:2792	PAX1	5075	HP:0000889	Abnormality of the clavicle
ORPHANET:2792	PAX1	5075	HP:0000324	Facial asymmetry
ORPHANET:2792	PAX1	5075	HP:0007477	Abnormal dermatoglyphics
ORPHANET:2792	PAX1	5075	HP:0000400	Macrotia
ORPHANET:2792	PAX1	5075	HP:0000413	Atresia of the external auditory canal
ORPHANET:2792	PAX1	5075	HP:0002167	Neurological speech impairment
ORPHANET:2792	PAX1	5075	HP:0100543	Cognitive impairment
ORPHANET:2792	PAX1	5075	HP:0000293	Full cheeks
ORPHANET:2792	PAX1	5075	HP:0005280	Depressed nasal bridge
ORPHANET:2792	EYA1	2138	HP:0000912	Sprengel anomaly
ORPHANET:2792	EYA1	2138	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:2792	EYA1	2138	HP:0000405	Conductive hearing impairment
ORPHANET:2792	EYA1	2138	HP:0000463	Anteverted nares
ORPHANET:2792	EYA1	2138	HP:0002750	Delayed skeletal maturation
ORPHANET:2792	EYA1	2138	HP:0004322	Short stature
ORPHANET:2792	EYA1	2138	HP:0009738	Abnormality of the antihelix
ORPHANET:2792	EYA1	2138	HP:0000383	Abnormality of periauricular region
ORPHANET:2792	EYA1	2138	HP:0000174	Abnormality of the palate
ORPHANET:2792	EYA1	2138	HP:0001347	Hyperreflexia
ORPHANET:2792	EYA1	2138	HP:0001276	Hypertonia
ORPHANET:2792	EYA1	2138	HP:0000889	Abnormality of the clavicle
ORPHANET:2792	EYA1	2138	HP:0000324	Facial asymmetry
ORPHANET:2792	EYA1	2138	HP:0007477	Abnormal dermatoglyphics
ORPHANET:2792	EYA1	2138	HP:0000400	Macrotia
ORPHANET:2792	EYA1	2138	HP:0000413	Atresia of the external auditory canal
ORPHANET:2792	EYA1	2138	HP:0002167	Neurological speech impairment
ORPHANET:2792	EYA1	2138	HP:0100543	Cognitive impairment
ORPHANET:2792	EYA1	2138	HP:0000293	Full cheeks
ORPHANET:2792	EYA1	2138	HP:0005280	Depressed nasal bridge
OMIM:610755	CDKN1B	1027	HP:0000845	Growth hormone excess
OMIM:610755	CDKN1B	1027	HP:0002893	Pituitary adenoma
OMIM:610755	CDKN1B	1027	HP:0000006	Autosomal dominant inheritance
OMIM:614669	EDN1	1906	HP:0000311	Round face
OMIM:614669	EDN1	1906	HP:0000358	Posteriorly rotated ears
OMIM:614669	EDN1	1906	HP:0000678	Dental crowding
OMIM:614669	EDN1	1906	HP:0000689	Dental malocclusion
OMIM:614669	EDN1	1906	HP:0000369	Low-set ears
OMIM:614669	EDN1	1906	HP:0000006	Autosomal dominant inheritance
OMIM:614669	EDN1	1906	HP:0000007	Autosomal recessive inheritance
OMIM:614669	EDN1	1906	HP:0000256	Macrocephaly
OMIM:614669	EDN1	1906	HP:0000175	Cleft palate
OMIM:614669	EDN1	1906	HP:0002104	Apnea
OMIM:614669	EDN1	1906	HP:0000162	Glossoptosis
OMIM:614669	EDN1	1906	HP:0000160	Narrow mouth
OMIM:614669	PLCB4	5332	HP:0000311	Round face
OMIM:614669	PLCB4	5332	HP:0000358	Posteriorly rotated ears
OMIM:614669	PLCB4	5332	HP:0000678	Dental crowding
OMIM:614669	PLCB4	5332	HP:0000689	Dental malocclusion
OMIM:614669	PLCB4	5332	HP:0000369	Low-set ears
OMIM:614669	PLCB4	5332	HP:0000006	Autosomal dominant inheritance
OMIM:614669	PLCB4	5332	HP:0000007	Autosomal recessive inheritance
OMIM:614669	PLCB4	5332	HP:0000256	Macrocephaly
OMIM:614669	PLCB4	5332	HP:0000175	Cleft palate
OMIM:614669	PLCB4	5332	HP:0002104	Apnea
OMIM:614669	PLCB4	5332	HP:0000162	Glossoptosis
OMIM:614669	PLCB4	5332	HP:0000160	Narrow mouth
OMIM:614669	GNAI3	2773	HP:0000311	Round face
OMIM:614669	GNAI3	2773	HP:0000358	Posteriorly rotated ears
OMIM:614669	GNAI3	2773	HP:0000678	Dental crowding
OMIM:614669	GNAI3	2773	HP:0000689	Dental malocclusion
OMIM:614669	GNAI3	2773	HP:0000369	Low-set ears
OMIM:614669	GNAI3	2773	HP:0000006	Autosomal dominant inheritance
OMIM:614669	GNAI3	2773	HP:0000007	Autosomal recessive inheritance
OMIM:614669	GNAI3	2773	HP:0000256	Macrocephaly
OMIM:614669	GNAI3	2773	HP:0000175	Cleft palate
OMIM:614669	GNAI3	2773	HP:0002104	Apnea
OMIM:614669	GNAI3	2773	HP:0000162	Glossoptosis
OMIM:614669	GNAI3	2773	HP:0000160	Narrow mouth
OMIM:615987	MKKS	8195	HP:0000135	Hypogonadism
OMIM:615987	MKKS	8195	HP:0000083	Renal insufficiency
OMIM:615987	MKKS	8195	HP:0100543	Cognitive impairment
OMIM:615987	MKKS	8195	HP:0010442	Polydactyly
OMIM:615987	MKKS	8195	HP:0001513	Obesity
OMIM:615987	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615987	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:615987	NPHP1	4867	HP:0000083	Renal insufficiency
OMIM:615987	NPHP1	4867	HP:0100543	Cognitive impairment
OMIM:615987	NPHP1	4867	HP:0010442	Polydactyly
OMIM:615987	NPHP1	4867	HP:0001513	Obesity
OMIM:615987	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615987	BBIP1	92482	HP:0000135	Hypogonadism
OMIM:615987	BBIP1	92482	HP:0000083	Renal insufficiency
OMIM:615987	BBIP1	92482	HP:0100543	Cognitive impairment
OMIM:615987	BBIP1	92482	HP:0010442	Polydactyly
OMIM:615987	BBIP1	92482	HP:0001513	Obesity
OMIM:615987	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615987	ARL6	84100	HP:0000135	Hypogonadism
OMIM:615987	ARL6	84100	HP:0000083	Renal insufficiency
OMIM:615987	ARL6	84100	HP:0100543	Cognitive impairment
OMIM:615987	ARL6	84100	HP:0010442	Polydactyly
OMIM:615987	ARL6	84100	HP:0001513	Obesity
OMIM:615987	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615987	BBS1	582	HP:0000135	Hypogonadism
OMIM:615987	BBS1	582	HP:0000083	Renal insufficiency
OMIM:615987	BBS1	582	HP:0100543	Cognitive impairment
OMIM:615987	BBS1	582	HP:0010442	Polydactyly
OMIM:615987	BBS1	582	HP:0001513	Obesity
OMIM:615987	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615987	BBS2	583	HP:0000135	Hypogonadism
OMIM:615987	BBS2	583	HP:0000083	Renal insufficiency
OMIM:615987	BBS2	583	HP:0100543	Cognitive impairment
OMIM:615987	BBS2	583	HP:0010442	Polydactyly
OMIM:615987	BBS2	583	HP:0001513	Obesity
OMIM:615987	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615987	BBS4	585	HP:0000135	Hypogonadism
OMIM:615987	BBS4	585	HP:0000083	Renal insufficiency
OMIM:615987	BBS4	585	HP:0100543	Cognitive impairment
OMIM:615987	BBS4	585	HP:0010442	Polydactyly
OMIM:615987	BBS4	585	HP:0001513	Obesity
OMIM:615987	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615987	BBS9	27241	HP:0000135	Hypogonadism
OMIM:615987	BBS9	27241	HP:0000083	Renal insufficiency
OMIM:615987	BBS9	27241	HP:0100543	Cognitive impairment
OMIM:615987	BBS9	27241	HP:0010442	Polydactyly
OMIM:615987	BBS9	27241	HP:0001513	Obesity
OMIM:615987	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615987	TTC8	123016	HP:0000135	Hypogonadism
OMIM:615987	TTC8	123016	HP:0000083	Renal insufficiency
OMIM:615987	TTC8	123016	HP:0100543	Cognitive impairment
OMIM:615987	TTC8	123016	HP:0010442	Polydactyly
OMIM:615987	TTC8	123016	HP:0001513	Obesity
OMIM:615987	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615987	BBS12	166379	HP:0000135	Hypogonadism
OMIM:615987	BBS12	166379	HP:0000083	Renal insufficiency
OMIM:615987	BBS12	166379	HP:0100543	Cognitive impairment
OMIM:615987	BBS12	166379	HP:0010442	Polydactyly
OMIM:615987	BBS12	166379	HP:0001513	Obesity
OMIM:615987	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615987	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:615987	TRIM32	22954	HP:0000083	Renal insufficiency
OMIM:615987	TRIM32	22954	HP:0100543	Cognitive impairment
OMIM:615987	TRIM32	22954	HP:0010442	Polydactyly
OMIM:615987	TRIM32	22954	HP:0001513	Obesity
OMIM:615987	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615987	BBS7	55212	HP:0000135	Hypogonadism
OMIM:615987	BBS7	55212	HP:0000083	Renal insufficiency
OMIM:615987	BBS7	55212	HP:0100543	Cognitive impairment
OMIM:615987	BBS7	55212	HP:0010442	Polydactyly
OMIM:615987	BBS7	55212	HP:0001513	Obesity
OMIM:615987	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615987	IFT27	11020	HP:0000135	Hypogonadism
OMIM:615987	IFT27	11020	HP:0000083	Renal insufficiency
OMIM:615987	IFT27	11020	HP:0100543	Cognitive impairment
OMIM:615987	IFT27	11020	HP:0010442	Polydactyly
OMIM:615987	IFT27	11020	HP:0001513	Obesity
OMIM:615987	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615987	IFT172	26160	HP:0000135	Hypogonadism
OMIM:615987	IFT172	26160	HP:0000083	Renal insufficiency
OMIM:615987	IFT172	26160	HP:0100543	Cognitive impairment
OMIM:615987	IFT172	26160	HP:0010442	Polydactyly
OMIM:615987	IFT172	26160	HP:0001513	Obesity
OMIM:615987	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615987	WDPCP	51057	HP:0000135	Hypogonadism
OMIM:615987	WDPCP	51057	HP:0000083	Renal insufficiency
OMIM:615987	WDPCP	51057	HP:0100543	Cognitive impairment
OMIM:615987	WDPCP	51057	HP:0010442	Polydactyly
OMIM:615987	WDPCP	51057	HP:0001513	Obesity
OMIM:615987	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615987	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:615987	SDCCAG8	10806	HP:0000083	Renal insufficiency
OMIM:615987	SDCCAG8	10806	HP:0100543	Cognitive impairment
OMIM:615987	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:615987	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615987	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615987	MKS1	54903	HP:0000135	Hypogonadism
OMIM:615987	MKS1	54903	HP:0000083	Renal insufficiency
OMIM:615987	MKS1	54903	HP:0100543	Cognitive impairment
OMIM:615987	MKS1	54903	HP:0010442	Polydactyly
OMIM:615987	MKS1	54903	HP:0001513	Obesity
OMIM:615987	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615987	BBS5	129880	HP:0000135	Hypogonadism
OMIM:615987	BBS5	129880	HP:0000083	Renal insufficiency
OMIM:615987	BBS5	129880	HP:0100543	Cognitive impairment
OMIM:615987	BBS5	129880	HP:0010442	Polydactyly
OMIM:615987	BBS5	129880	HP:0001513	Obesity
OMIM:615987	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615987	CEP290	80184	HP:0000135	Hypogonadism
OMIM:615987	CEP290	80184	HP:0000083	Renal insufficiency
OMIM:615987	CEP290	80184	HP:0100543	Cognitive impairment
OMIM:615987	CEP290	80184	HP:0010442	Polydactyly
OMIM:615987	CEP290	80184	HP:0001513	Obesity
OMIM:615987	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615987	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:615987	LZTFL1	54585	HP:0000083	Renal insufficiency
OMIM:615987	LZTFL1	54585	HP:0100543	Cognitive impairment
OMIM:615987	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:615987	LZTFL1	54585	HP:0001513	Obesity
OMIM:615987	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615987	BBS10	79738	HP:0000135	Hypogonadism
OMIM:615987	BBS10	79738	HP:0000083	Renal insufficiency
OMIM:615987	BBS10	79738	HP:0100543	Cognitive impairment
OMIM:615987	BBS10	79738	HP:0010442	Polydactyly
OMIM:615987	BBS10	79738	HP:0001513	Obesity
OMIM:615987	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:119600	RUNX2	860	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:119600	RUNX2	860	HP:0000696	Delayed eruption of permanent teeth
OMIM:119600	RUNX2	860	HP:0002650	Scoliosis
OMIM:119600	RUNX2	860	HP:0000175	Cleft palate
OMIM:119600	RUNX2	860	HP:0002659	Increased susceptibility to fractures
OMIM:119600	RUNX2	860	HP:0000347	Micrognathia
OMIM:119600	RUNX2	860	HP:0004220	Short middle phalanx of the 5th finger
OMIM:119600	RUNX2	860	HP:0000272	Malar flattening
OMIM:119600	RUNX2	860	HP:0000365	Hearing impairment
OMIM:119600	RUNX2	860	HP:0002808	Kyphosis
OMIM:119600	RUNX2	860	HP:0011800	Hypoplasia of midface
OMIM:119600	RUNX2	860	HP:0000189	Narrow palate
OMIM:119600	RUNX2	860	HP:0000218	High palate
OMIM:119600	RUNX2	860	HP:0006297	Hypoplasia of dental enamel
OMIM:119600	RUNX2	860	HP:0011001	Increased bone mineral density
OMIM:119600	RUNX2	860	HP:0002684	Thickened calvaria
OMIM:119600	RUNX2	860	HP:0000773	Short ribs
OMIM:119600	RUNX2	860	HP:0002812	Coxa vara
OMIM:119600	RUNX2	860	HP:0002007	Frontal bossing
OMIM:119600	RUNX2	860	HP:0005280	Depressed nasal bridge
OMIM:119600	RUNX2	860	HP:0001156	Brachydactyly syndrome
OMIM:119600	RUNX2	860	HP:0000774	Narrow chest
OMIM:119600	RUNX2	860	HP:0000316	Hypertelorism
OMIM:119600	RUNX2	860	HP:0000894	Short clavicles
OMIM:119600	RUNX2	860	HP:0002700	Large foramen magnum
OMIM:119600	RUNX2	860	HP:0000006	Autosomal dominant inheritance
OMIM:119600	RUNX2	860	HP:0000680	Delayed eruption of primary teeth
OMIM:119600	RUNX2	860	HP:0002645	Wormian bones
OMIM:119600	RUNX2	860	HP:0000882	Hypoplastic scapulae
OMIM:119600	RUNX2	860	HP:0100864	Short femoral neck
OMIM:608647	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:608647	DNAAF2	55172	HP:0002837	Recurrent bronchitis
OMIM:608647	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:608647	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:608647	DNAAF2	55172	HP:0003593	Infantile onset
OMIM:608647	DNAAF2	55172	HP:0011108	Recurrent sinusitis
OMIM:608647	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:608647	CCNO	10309	HP:0002837	Recurrent bronchitis
OMIM:608647	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:608647	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:608647	CCNO	10309	HP:0003593	Infantile onset
OMIM:608647	CCNO	10309	HP:0011108	Recurrent sinusitis
OMIM:608647	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:608647	DNAAF5	54919	HP:0002837	Recurrent bronchitis
OMIM:608647	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:608647	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:608647	DNAAF5	54919	HP:0003593	Infantile onset
OMIM:608647	DNAAF5	54919	HP:0011108	Recurrent sinusitis
OMIM:608647	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:608647	DNAAF3	352909	HP:0002837	Recurrent bronchitis
OMIM:608647	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:608647	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:608647	DNAAF3	352909	HP:0003593	Infantile onset
OMIM:608647	DNAAF3	352909	HP:0011108	Recurrent sinusitis
OMIM:608647	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:608647	DNAI1	27019	HP:0002837	Recurrent bronchitis
OMIM:608647	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:608647	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:608647	DNAI1	27019	HP:0003593	Infantile onset
OMIM:608647	DNAI1	27019	HP:0011108	Recurrent sinusitis
OMIM:608647	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:608647	DRC1	92749	HP:0002837	Recurrent bronchitis
OMIM:608647	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:608647	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:608647	DRC1	92749	HP:0003593	Infantile onset
OMIM:608647	DRC1	92749	HP:0011108	Recurrent sinusitis
OMIM:608647	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:608647	SPAG1	6674	HP:0002837	Recurrent bronchitis
OMIM:608647	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:608647	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:608647	SPAG1	6674	HP:0003593	Infantile onset
OMIM:608647	SPAG1	6674	HP:0011108	Recurrent sinusitis
OMIM:608647	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:608647	RSPH3	83861	HP:0002837	Recurrent bronchitis
OMIM:608647	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:608647	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:608647	RSPH3	83861	HP:0003593	Infantile onset
OMIM:608647	RSPH3	83861	HP:0011108	Recurrent sinusitis
OMIM:608647	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:608647	RPGR	6103	HP:0002837	Recurrent bronchitis
OMIM:608647	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:608647	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:608647	RPGR	6103	HP:0003593	Infantile onset
OMIM:608647	RPGR	6103	HP:0011108	Recurrent sinusitis
OMIM:608647	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:608647	LRRC6	23639	HP:0002837	Recurrent bronchitis
OMIM:608647	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:608647	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:608647	LRRC6	23639	HP:0003593	Infantile onset
OMIM:608647	LRRC6	23639	HP:0011108	Recurrent sinusitis
OMIM:608647	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:608647	DNAL1	83544	HP:0002837	Recurrent bronchitis
OMIM:608647	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:608647	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:608647	DNAL1	83544	HP:0003593	Infantile onset
OMIM:608647	DNAL1	83544	HP:0011108	Recurrent sinusitis
OMIM:608647	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:608647	ARMC4	55130	HP:0002837	Recurrent bronchitis
OMIM:608647	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:608647	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:608647	ARMC4	55130	HP:0003593	Infantile onset
OMIM:608647	ARMC4	55130	HP:0011108	Recurrent sinusitis
OMIM:608647	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:608647	CCDC103	388389	HP:0002837	Recurrent bronchitis
OMIM:608647	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:608647	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:608647	CCDC103	388389	HP:0003593	Infantile onset
OMIM:608647	CCDC103	388389	HP:0011108	Recurrent sinusitis
OMIM:608647	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:608647	OFD1	8481	HP:0002837	Recurrent bronchitis
OMIM:608647	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:608647	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:608647	OFD1	8481	HP:0003593	Infantile onset
OMIM:608647	OFD1	8481	HP:0011108	Recurrent sinusitis
OMIM:608647	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:608647	DNAAF1	123872	HP:0002837	Recurrent bronchitis
OMIM:608647	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:608647	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:608647	DNAAF1	123872	HP:0003593	Infantile onset
OMIM:608647	DNAAF1	123872	HP:0011108	Recurrent sinusitis
OMIM:608647	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:608647	RSPH4A	345895	HP:0002837	Recurrent bronchitis
OMIM:608647	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:608647	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:608647	RSPH4A	345895	HP:0003593	Infantile onset
OMIM:608647	RSPH4A	345895	HP:0011108	Recurrent sinusitis
OMIM:608647	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:608647	RSPH1	89765	HP:0002837	Recurrent bronchitis
OMIM:608647	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:608647	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:608647	RSPH1	89765	HP:0003593	Infantile onset
OMIM:608647	RSPH1	89765	HP:0011108	Recurrent sinusitis
OMIM:608647	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:608647	ZMYND10	51364	HP:0002837	Recurrent bronchitis
OMIM:608647	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:608647	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:608647	ZMYND10	51364	HP:0003593	Infantile onset
OMIM:608647	ZMYND10	51364	HP:0011108	Recurrent sinusitis
OMIM:608647	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:608647	DNAH5	1767	HP:0002837	Recurrent bronchitis
OMIM:608647	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:608647	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:608647	DNAH5	1767	HP:0003593	Infantile onset
OMIM:608647	DNAH5	1767	HP:0011108	Recurrent sinusitis
OMIM:608647	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:608647	CCDC65	85478	HP:0002837	Recurrent bronchitis
OMIM:608647	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:608647	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:608647	CCDC65	85478	HP:0003593	Infantile onset
OMIM:608647	CCDC65	85478	HP:0011108	Recurrent sinusitis
OMIM:608647	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:608647	C21ORF59	56683	HP:0002837	Recurrent bronchitis
OMIM:608647	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:608647	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:608647	C21ORF59	56683	HP:0003593	Infantile onset
OMIM:608647	C21ORF59	56683	HP:0011108	Recurrent sinusitis
OMIM:608647	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:608647	DYX1C1	161582	HP:0002837	Recurrent bronchitis
OMIM:608647	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:608647	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:608647	DYX1C1	161582	HP:0003593	Infantile onset
OMIM:608647	DYX1C1	161582	HP:0011108	Recurrent sinusitis
OMIM:608647	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:608647	CCDC151	115948	HP:0002837	Recurrent bronchitis
OMIM:608647	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:608647	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:608647	CCDC151	115948	HP:0003593	Infantile onset
OMIM:608647	CCDC151	115948	HP:0011108	Recurrent sinusitis
OMIM:608647	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:608647	RSPH9	221421	HP:0002837	Recurrent bronchitis
OMIM:608647	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:608647	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:608647	RSPH9	221421	HP:0003593	Infantile onset
OMIM:608647	RSPH9	221421	HP:0011108	Recurrent sinusitis
OMIM:608647	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:608647	HYDIN	54768	HP:0002837	Recurrent bronchitis
OMIM:608647	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:608647	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:608647	HYDIN	54768	HP:0003593	Infantile onset
OMIM:608647	HYDIN	54768	HP:0011108	Recurrent sinusitis
OMIM:608647	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:608647	CCDC39	339829	HP:0002837	Recurrent bronchitis
OMIM:608647	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:608647	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:608647	CCDC39	339829	HP:0003593	Infantile onset
OMIM:608647	CCDC39	339829	HP:0011108	Recurrent sinusitis
OMIM:608647	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:608647	CCDC114	93233	HP:0002837	Recurrent bronchitis
OMIM:608647	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:608647	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:608647	CCDC114	93233	HP:0003593	Infantile onset
OMIM:608647	CCDC114	93233	HP:0011108	Recurrent sinusitis
OMIM:608647	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:608647	NME8	51314	HP:0002837	Recurrent bronchitis
OMIM:608647	NME8	51314	HP:0002110	Bronchiectasis
OMIM:608647	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:608647	NME8	51314	HP:0003593	Infantile onset
OMIM:608647	NME8	51314	HP:0011108	Recurrent sinusitis
OMIM:608647	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:608647	CCDC40	55036	HP:0002837	Recurrent bronchitis
OMIM:608647	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:608647	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:608647	CCDC40	55036	HP:0003593	Infantile onset
OMIM:608647	CCDC40	55036	HP:0011108	Recurrent sinusitis
OMIM:608647	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:608647	DNAH11	8701	HP:0002837	Recurrent bronchitis
OMIM:608647	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:608647	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:608647	DNAH11	8701	HP:0003593	Infantile onset
OMIM:608647	DNAH11	8701	HP:0011108	Recurrent sinusitis
OMIM:608647	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:608647	DNAI2	64446	HP:0002837	Recurrent bronchitis
OMIM:608647	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:608647	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:608647	DNAI2	64446	HP:0003593	Infantile onset
OMIM:608647	DNAI2	64446	HP:0011108	Recurrent sinusitis
OMIM:608647	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:608647	GAS8	2622	HP:0002837	Recurrent bronchitis
OMIM:608647	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:608647	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:608647	GAS8	2622	HP:0003593	Infantile onset
OMIM:608647	GAS8	2622	HP:0011108	Recurrent sinusitis
ORPHANET:1885	FBN1	2200	HP:0000505	Visual impairment
ORPHANET:1885	FBN1	2200	HP:0001083	Ectopia lentis
ORPHANET:1885	FBN1	2200	HP:0001376	Limitation of joint mobility
ORPHANET:1885	FBN1	2200	HP:0001131	Corneal dystrophy
ORPHANET:1885	FBN1	2200	HP:0000483	Astigmatism
ORPHANET:1885	FBN1	2200	HP:0000501	Glaucoma
ORPHANET:1885	FBN1	2200	HP:0000615	Abnormality of the pupil
ORPHANET:1885	FBN1	2200	HP:0000541	Retinal detachment
ORPHANET:1885	FBN1	2200	HP:0008063	Aplasia/Hypoplasia of the lens
ORPHANET:1885	FBN1	2200	HP:0007720	Flat cornea
ORPHANET:1885	FBN1	2200	HP:0000540	Hypermetropia
ORPHANET:1885	ADAMTSL4	54507	HP:0000505	Visual impairment
ORPHANET:1885	ADAMTSL4	54507	HP:0001083	Ectopia lentis
ORPHANET:1885	ADAMTSL4	54507	HP:0001376	Limitation of joint mobility
ORPHANET:1885	ADAMTSL4	54507	HP:0001131	Corneal dystrophy
ORPHANET:1885	ADAMTSL4	54507	HP:0000483	Astigmatism
ORPHANET:1885	ADAMTSL4	54507	HP:0000501	Glaucoma
ORPHANET:1885	ADAMTSL4	54507	HP:0000615	Abnormality of the pupil
ORPHANET:1885	ADAMTSL4	54507	HP:0000541	Retinal detachment
ORPHANET:1885	ADAMTSL4	54507	HP:0008063	Aplasia/Hypoplasia of the lens
ORPHANET:1885	ADAMTSL4	54507	HP:0007720	Flat cornea
ORPHANET:1885	ADAMTSL4	54507	HP:0000540	Hypermetropia
ORPHANET:269	FRG1	2483	HP:0000298	Mask-like facies
ORPHANET:269	FRG1	2483	HP:0003307	Hyperlordosis
ORPHANET:269	FRG1	2483	HP:0003457	EMG abnormality
ORPHANET:269	FRG1	2483	HP:0000407	Sensorineural hearing impairment
ORPHANET:269	FRG1	2483	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:269	FRG1	2483	HP:0000499	Abnormality of the eyelashes
ORPHANET:269	FRG1	2483	HP:0003202	Skeletal muscle atrophy
ORPHANET:269	SMCHD1	23347	HP:0000298	Mask-like facies
ORPHANET:269	SMCHD1	23347	HP:0003307	Hyperlordosis
ORPHANET:269	SMCHD1	23347	HP:0003457	EMG abnormality
ORPHANET:269	SMCHD1	23347	HP:0000407	Sensorineural hearing impairment
ORPHANET:269	SMCHD1	23347	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:269	SMCHD1	23347	HP:0000499	Abnormality of the eyelashes
ORPHANET:269	SMCHD1	23347	HP:0003202	Skeletal muscle atrophy
ORPHANET:269	DUX4	100288687	HP:0000298	Mask-like facies
ORPHANET:269	DUX4	100288687	HP:0003307	Hyperlordosis
ORPHANET:269	DUX4	100288687	HP:0003457	EMG abnormality
ORPHANET:269	DUX4	100288687	HP:0000407	Sensorineural hearing impairment
ORPHANET:269	DUX4	100288687	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:269	DUX4	100288687	HP:0000499	Abnormality of the eyelashes
ORPHANET:269	DUX4	100288687	HP:0003202	Skeletal muscle atrophy
OMIM:157640	POLG2	11232	HP:0001260	Dysarthria
OMIM:157640	POLG2	11232	HP:0000869	Secondary amenorrhea
OMIM:157640	POLG2	11232	HP:0003676	Progressive
OMIM:157640	POLG2	11232	HP:0003546	Exercise intolerance
OMIM:157640	POLG2	11232	HP:0000518	Cataract
OMIM:157640	POLG2	11232	HP:0001761	Pes cavus
OMIM:157640	POLG2	11232	HP:0003812	Phenotypic variability
OMIM:157640	POLG2	11232	HP:0002066	Gait ataxia
OMIM:157640	POLG2	11232	HP:0002151	Increased serum lactate
OMIM:157640	POLG2	11232	HP:0000407	Sensorineural hearing impairment
OMIM:157640	POLG2	11232	HP:0010628	Facial palsy
OMIM:157640	POLG2	11232	HP:0002015	Dysphagia
OMIM:157640	POLG2	11232	HP:0003202	Skeletal muscle atrophy
OMIM:157640	POLG2	11232	HP:0000508	Ptosis
OMIM:157640	POLG2	11232	HP:0000786	Primary amenorrhea
OMIM:157640	POLG2	11232	HP:0000815	Hypergonadotropic hypogonadism
OMIM:157640	POLG2	11232	HP:0003458	EMG: myopathic abnormalities
OMIM:157640	POLG2	11232	HP:0000716	Depression
OMIM:157640	POLG2	11232	HP:0001265	Hyporeflexia
OMIM:157640	POLG2	11232	HP:0002067	Bradykinesia
OMIM:157640	POLG2	11232	HP:0002063	Rigidity
OMIM:157640	POLG2	11232	HP:0000006	Autosomal dominant inheritance
OMIM:157640	POLG2	11232	HP:0003581	Adult onset
OMIM:157640	POLG2	11232	HP:0003690	Limb muscle weakness
OMIM:157640	SLC25A4	291	HP:0001260	Dysarthria
OMIM:157640	SLC25A4	291	HP:0000869	Secondary amenorrhea
OMIM:157640	SLC25A4	291	HP:0003676	Progressive
OMIM:157640	SLC25A4	291	HP:0003546	Exercise intolerance
OMIM:157640	SLC25A4	291	HP:0000518	Cataract
OMIM:157640	SLC25A4	291	HP:0001761	Pes cavus
OMIM:157640	SLC25A4	291	HP:0003812	Phenotypic variability
OMIM:157640	SLC25A4	291	HP:0002066	Gait ataxia
OMIM:157640	SLC25A4	291	HP:0002151	Increased serum lactate
OMIM:157640	SLC25A4	291	HP:0000407	Sensorineural hearing impairment
OMIM:157640	SLC25A4	291	HP:0010628	Facial palsy
OMIM:157640	SLC25A4	291	HP:0002015	Dysphagia
OMIM:157640	SLC25A4	291	HP:0003202	Skeletal muscle atrophy
OMIM:157640	SLC25A4	291	HP:0000508	Ptosis
OMIM:157640	SLC25A4	291	HP:0000786	Primary amenorrhea
OMIM:157640	SLC25A4	291	HP:0000815	Hypergonadotropic hypogonadism
OMIM:157640	SLC25A4	291	HP:0003458	EMG: myopathic abnormalities
OMIM:157640	SLC25A4	291	HP:0000716	Depression
OMIM:157640	SLC25A4	291	HP:0001265	Hyporeflexia
OMIM:157640	SLC25A4	291	HP:0002067	Bradykinesia
OMIM:157640	SLC25A4	291	HP:0002063	Rigidity
OMIM:157640	SLC25A4	291	HP:0000006	Autosomal dominant inheritance
OMIM:157640	SLC25A4	291	HP:0003581	Adult onset
OMIM:157640	SLC25A4	291	HP:0003690	Limb muscle weakness
OMIM:157640	POLG	5428	HP:0001260	Dysarthria
OMIM:157640	POLG	5428	HP:0000869	Secondary amenorrhea
OMIM:157640	POLG	5428	HP:0003676	Progressive
OMIM:157640	POLG	5428	HP:0003546	Exercise intolerance
OMIM:157640	POLG	5428	HP:0000518	Cataract
OMIM:157640	POLG	5428	HP:0001761	Pes cavus
OMIM:157640	POLG	5428	HP:0003812	Phenotypic variability
OMIM:157640	POLG	5428	HP:0002066	Gait ataxia
OMIM:157640	POLG	5428	HP:0002151	Increased serum lactate
OMIM:157640	POLG	5428	HP:0000407	Sensorineural hearing impairment
OMIM:157640	POLG	5428	HP:0010628	Facial palsy
OMIM:157640	POLG	5428	HP:0002015	Dysphagia
OMIM:157640	POLG	5428	HP:0003202	Skeletal muscle atrophy
OMIM:157640	POLG	5428	HP:0000508	Ptosis
OMIM:157640	POLG	5428	HP:0000786	Primary amenorrhea
OMIM:157640	POLG	5428	HP:0000815	Hypergonadotropic hypogonadism
OMIM:157640	POLG	5428	HP:0003458	EMG: myopathic abnormalities
OMIM:157640	POLG	5428	HP:0000716	Depression
OMIM:157640	POLG	5428	HP:0001265	Hyporeflexia
OMIM:157640	POLG	5428	HP:0002067	Bradykinesia
OMIM:157640	POLG	5428	HP:0002063	Rigidity
OMIM:157640	POLG	5428	HP:0000006	Autosomal dominant inheritance
OMIM:157640	POLG	5428	HP:0003581	Adult onset
OMIM:157640	POLG	5428	HP:0003690	Limb muscle weakness
OMIM:157640	RRM2B	50484	HP:0001260	Dysarthria
OMIM:157640	RRM2B	50484	HP:0000869	Secondary amenorrhea
OMIM:157640	RRM2B	50484	HP:0003676	Progressive
OMIM:157640	RRM2B	50484	HP:0003546	Exercise intolerance
OMIM:157640	RRM2B	50484	HP:0000518	Cataract
OMIM:157640	RRM2B	50484	HP:0001761	Pes cavus
OMIM:157640	RRM2B	50484	HP:0003812	Phenotypic variability
OMIM:157640	RRM2B	50484	HP:0002066	Gait ataxia
OMIM:157640	RRM2B	50484	HP:0002151	Increased serum lactate
OMIM:157640	RRM2B	50484	HP:0000407	Sensorineural hearing impairment
OMIM:157640	RRM2B	50484	HP:0010628	Facial palsy
OMIM:157640	RRM2B	50484	HP:0002015	Dysphagia
OMIM:157640	RRM2B	50484	HP:0003202	Skeletal muscle atrophy
OMIM:157640	RRM2B	50484	HP:0000508	Ptosis
OMIM:157640	RRM2B	50484	HP:0000786	Primary amenorrhea
OMIM:157640	RRM2B	50484	HP:0000815	Hypergonadotropic hypogonadism
OMIM:157640	RRM2B	50484	HP:0003458	EMG: myopathic abnormalities
OMIM:157640	RRM2B	50484	HP:0000716	Depression
OMIM:157640	RRM2B	50484	HP:0001265	Hyporeflexia
OMIM:157640	RRM2B	50484	HP:0002067	Bradykinesia
OMIM:157640	RRM2B	50484	HP:0002063	Rigidity
OMIM:157640	RRM2B	50484	HP:0000006	Autosomal dominant inheritance
OMIM:157640	RRM2B	50484	HP:0003581	Adult onset
OMIM:157640	RRM2B	50484	HP:0003690	Limb muscle weakness
OMIM:157640	C10ORF2	56652	HP:0001260	Dysarthria
OMIM:157640	C10ORF2	56652	HP:0000869	Secondary amenorrhea
OMIM:157640	C10ORF2	56652	HP:0003676	Progressive
OMIM:157640	C10ORF2	56652	HP:0003546	Exercise intolerance
OMIM:157640	C10ORF2	56652	HP:0000518	Cataract
OMIM:157640	C10ORF2	56652	HP:0001761	Pes cavus
OMIM:157640	C10ORF2	56652	HP:0003812	Phenotypic variability
OMIM:157640	C10ORF2	56652	HP:0002066	Gait ataxia
OMIM:157640	C10ORF2	56652	HP:0002151	Increased serum lactate
OMIM:157640	C10ORF2	56652	HP:0000407	Sensorineural hearing impairment
OMIM:157640	C10ORF2	56652	HP:0010628	Facial palsy
OMIM:157640	C10ORF2	56652	HP:0002015	Dysphagia
OMIM:157640	C10ORF2	56652	HP:0003202	Skeletal muscle atrophy
OMIM:157640	C10ORF2	56652	HP:0000508	Ptosis
OMIM:157640	C10ORF2	56652	HP:0000786	Primary amenorrhea
OMIM:157640	C10ORF2	56652	HP:0000815	Hypergonadotropic hypogonadism
OMIM:157640	C10ORF2	56652	HP:0003458	EMG: myopathic abnormalities
OMIM:157640	C10ORF2	56652	HP:0000716	Depression
OMIM:157640	C10ORF2	56652	HP:0001265	Hyporeflexia
OMIM:157640	C10ORF2	56652	HP:0002067	Bradykinesia
OMIM:157640	C10ORF2	56652	HP:0002063	Rigidity
OMIM:157640	C10ORF2	56652	HP:0000006	Autosomal dominant inheritance
OMIM:157640	C10ORF2	56652	HP:0003581	Adult onset
OMIM:157640	C10ORF2	56652	HP:0003690	Limb muscle weakness
OMIM:616037	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:616037	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:616037	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:616037	DNAAF2	55172	HP:0002099	Asthma
OMIM:616037	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:616037	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:616037	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:616037	CCNO	10309	HP:0002099	Asthma
OMIM:616037	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:616037	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:616037	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:616037	DNAAF5	54919	HP:0002099	Asthma
OMIM:616037	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:616037	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:616037	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:616037	DNAAF3	352909	HP:0002099	Asthma
OMIM:616037	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:616037	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:616037	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:616037	DNAI1	27019	HP:0002099	Asthma
OMIM:616037	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:616037	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:616037	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:616037	DRC1	92749	HP:0002099	Asthma
OMIM:616037	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:616037	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:616037	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:616037	SPAG1	6674	HP:0002099	Asthma
OMIM:616037	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:616037	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:616037	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:616037	RSPH3	83861	HP:0002099	Asthma
OMIM:616037	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:616037	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:616037	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:616037	RPGR	6103	HP:0002099	Asthma
OMIM:616037	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:616037	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:616037	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:616037	LRRC6	23639	HP:0002099	Asthma
OMIM:616037	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:616037	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:616037	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:616037	DNAL1	83544	HP:0002099	Asthma
OMIM:616037	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:616037	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:616037	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:616037	ARMC4	55130	HP:0002099	Asthma
OMIM:616037	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:616037	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:616037	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:616037	CCDC103	388389	HP:0002099	Asthma
OMIM:616037	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:616037	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:616037	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:616037	OFD1	8481	HP:0002099	Asthma
OMIM:616037	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:616037	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:616037	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:616037	DNAAF1	123872	HP:0002099	Asthma
OMIM:616037	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:616037	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:616037	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:616037	RSPH4A	345895	HP:0002099	Asthma
OMIM:616037	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:616037	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:616037	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:616037	RSPH1	89765	HP:0002099	Asthma
OMIM:616037	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:616037	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:616037	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:616037	ZMYND10	51364	HP:0002099	Asthma
OMIM:616037	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:616037	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:616037	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:616037	DNAH5	1767	HP:0002099	Asthma
OMIM:616037	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:616037	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:616037	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:616037	CCDC65	85478	HP:0002099	Asthma
OMIM:616037	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:616037	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:616037	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:616037	C21ORF59	56683	HP:0002099	Asthma
OMIM:616037	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:616037	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:616037	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:616037	DYX1C1	161582	HP:0002099	Asthma
OMIM:616037	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:616037	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:616037	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:616037	CCDC151	115948	HP:0002099	Asthma
OMIM:616037	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:616037	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:616037	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:616037	RSPH9	221421	HP:0002099	Asthma
OMIM:616037	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:616037	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:616037	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:616037	CCDC39	339829	HP:0002099	Asthma
OMIM:616037	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:616037	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:616037	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:616037	HYDIN	54768	HP:0002099	Asthma
OMIM:616037	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:616037	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:616037	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:616037	CCDC114	93233	HP:0002099	Asthma
OMIM:616037	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:616037	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:616037	NME8	51314	HP:0002110	Bronchiectasis
OMIM:616037	NME8	51314	HP:0002099	Asthma
OMIM:616037	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:616037	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:616037	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:616037	CCDC40	55036	HP:0002099	Asthma
OMIM:616037	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:616037	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:616037	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:616037	DNAH11	8701	HP:0002099	Asthma
OMIM:616037	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:616037	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:616037	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:616037	DNAI2	64446	HP:0002099	Asthma
OMIM:616037	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:616037	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:616037	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:616037	GAS8	2622	HP:0002099	Asthma
OMIM:600884	TPM1	7168	HP:0004308	Ventricular arrhythmia
OMIM:600884	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:600884	TPM1	7168	HP:0006670	Impaired myocardial contractility
OMIM:600884	CRYAB	1410	HP:0004308	Ventricular arrhythmia
OMIM:600884	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:600884	CRYAB	1410	HP:0006670	Impaired myocardial contractility
OMIM:600884	ACTC1	70	HP:0004308	Ventricular arrhythmia
OMIM:600884	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:600884	ACTC1	70	HP:0006670	Impaired myocardial contractility
OMIM:600884	RAF1	5894	HP:0004308	Ventricular arrhythmia
OMIM:600884	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:600884	RAF1	5894	HP:0006670	Impaired myocardial contractility
OMIM:600884	GATAD1	57798	HP:0004308	Ventricular arrhythmia
OMIM:600884	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:600884	GATAD1	57798	HP:0006670	Impaired myocardial contractility
OMIM:600884	LAMA4	3910	HP:0004308	Ventricular arrhythmia
OMIM:600884	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:600884	LAMA4	3910	HP:0006670	Impaired myocardial contractility
OMIM:600884	TMPO	7112	HP:0004308	Ventricular arrhythmia
OMIM:600884	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:600884	TMPO	7112	HP:0006670	Impaired myocardial contractility
OMIM:600884	DES	1674	HP:0004308	Ventricular arrhythmia
OMIM:600884	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:600884	DES	1674	HP:0006670	Impaired myocardial contractility
OMIM:600884	ABCC9	10060	HP:0004308	Ventricular arrhythmia
OMIM:600884	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:600884	ABCC9	10060	HP:0006670	Impaired myocardial contractility
OMIM:600884	MYH6	4624	HP:0004308	Ventricular arrhythmia
OMIM:600884	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:600884	MYH6	4624	HP:0006670	Impaired myocardial contractility
OMIM:600884	MYH7	4625	HP:0004308	Ventricular arrhythmia
OMIM:600884	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:600884	MYH7	4625	HP:0006670	Impaired myocardial contractility
OMIM:600884	LDB3	11155	HP:0004308	Ventricular arrhythmia
OMIM:600884	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:600884	LDB3	11155	HP:0006670	Impaired myocardial contractility
OMIM:600884	ACTN2	88	HP:0004308	Ventricular arrhythmia
OMIM:600884	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:600884	ACTN2	88	HP:0006670	Impaired myocardial contractility
OMIM:600884	TXNRD2	10587	HP:0004308	Ventricular arrhythmia
OMIM:600884	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:600884	TXNRD2	10587	HP:0006670	Impaired myocardial contractility
OMIM:600884	DMD	1756	HP:0004308	Ventricular arrhythmia
OMIM:600884	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:600884	DMD	1756	HP:0006670	Impaired myocardial contractility
OMIM:600884	TNNC1	7134	HP:0004308	Ventricular arrhythmia
OMIM:600884	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:600884	TNNC1	7134	HP:0006670	Impaired myocardial contractility
OMIM:600884	PSEN1	5663	HP:0004308	Ventricular arrhythmia
OMIM:600884	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:600884	PSEN1	5663	HP:0006670	Impaired myocardial contractility
OMIM:600884	PSEN2	5664	HP:0004308	Ventricular arrhythmia
OMIM:600884	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:600884	PSEN2	5664	HP:0006670	Impaired myocardial contractility
OMIM:600884	TNNI3	7137	HP:0004308	Ventricular arrhythmia
OMIM:600884	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:600884	TNNI3	7137	HP:0006670	Impaired myocardial contractility
OMIM:600884	FHL2	2274	HP:0004308	Ventricular arrhythmia
OMIM:600884	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:600884	FHL2	2274	HP:0006670	Impaired myocardial contractility
OMIM:600884	TNNT2	7139	HP:0004308	Ventricular arrhythmia
OMIM:600884	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:600884	TNNT2	7139	HP:0006670	Impaired myocardial contractility
OMIM:600884	DSG2	1829	HP:0004308	Ventricular arrhythmia
OMIM:600884	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:600884	DSG2	1829	HP:0006670	Impaired myocardial contractility
OMIM:600884	PLN	5350	HP:0004308	Ventricular arrhythmia
OMIM:600884	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:600884	PLN	5350	HP:0006670	Impaired myocardial contractility
OMIM:600884	PRDM16	63976	HP:0004308	Ventricular arrhythmia
OMIM:600884	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:600884	PRDM16	63976	HP:0006670	Impaired myocardial contractility
OMIM:600884	TTN	7273	HP:0004308	Ventricular arrhythmia
OMIM:600884	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:600884	TTN	7273	HP:0006670	Impaired myocardial contractility
OMIM:600884	NEXN	91624	HP:0004308	Ventricular arrhythmia
OMIM:600884	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:600884	NEXN	91624	HP:0006670	Impaired myocardial contractility
OMIM:600884	FKTN	2218	HP:0004308	Ventricular arrhythmia
OMIM:600884	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:600884	FKTN	2218	HP:0006670	Impaired myocardial contractility
OMIM:600884	SGCD	6444	HP:0004308	Ventricular arrhythmia
OMIM:600884	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:600884	SGCD	6444	HP:0006670	Impaired myocardial contractility
OMIM:600884	TCAP	8557	HP:0004308	Ventricular arrhythmia
OMIM:600884	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:600884	TCAP	8557	HP:0006670	Impaired myocardial contractility
OMIM:600884	CSRP3	8048	HP:0004308	Ventricular arrhythmia
OMIM:600884	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:600884	CSRP3	8048	HP:0006670	Impaired myocardial contractility
OMIM:600884	RBM20	282996	HP:0004308	Ventricular arrhythmia
OMIM:600884	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:600884	RBM20	282996	HP:0006670	Impaired myocardial contractility
OMIM:600884	SDHA	6389	HP:0004308	Ventricular arrhythmia
OMIM:600884	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:600884	SDHA	6389	HP:0006670	Impaired myocardial contractility
OMIM:600884	TAZ	6901	HP:0004308	Ventricular arrhythmia
OMIM:600884	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:600884	TAZ	6901	HP:0006670	Impaired myocardial contractility
OMIM:600884	VCL	7414	HP:0004308	Ventricular arrhythmia
OMIM:600884	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:600884	VCL	7414	HP:0006670	Impaired myocardial contractility
OMIM:600884	MYPN	84665	HP:0004308	Ventricular arrhythmia
OMIM:600884	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:600884	MYPN	84665	HP:0006670	Impaired myocardial contractility
OMIM:600884	SCN5A	6331	HP:0004308	Ventricular arrhythmia
OMIM:600884	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:600884	SCN5A	6331	HP:0006670	Impaired myocardial contractility
OMIM:600884	BAG3	9531	HP:0004308	Ventricular arrhythmia
OMIM:600884	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:600884	BAG3	9531	HP:0006670	Impaired myocardial contractility
OMIM:600884	DOLK	22845	HP:0004308	Ventricular arrhythmia
OMIM:600884	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:600884	DOLK	22845	HP:0006670	Impaired myocardial contractility
OMIM:600884	MYBPC3	4607	HP:0004308	Ventricular arrhythmia
OMIM:600884	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:600884	MYBPC3	4607	HP:0006670	Impaired myocardial contractility
ORPHANET:93271	WDR34	89891	HP:0000518	Cataract
ORPHANET:93271	WDR34	89891	HP:0000944	Abnormality of the metaphyses
ORPHANET:93271	WDR34	89891	HP:0002007	Frontal bossing
ORPHANET:93271	WDR34	89891	HP:0001789	Hydrops fetalis
ORPHANET:93271	WDR34	89891	HP:0000774	Narrow chest
ORPHANET:93271	WDR34	89891	HP:0001539	Omphalocele
ORPHANET:93271	WDR34	89891	HP:0000113	Polycystic kidney dysplasia
ORPHANET:93271	WDR34	89891	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:93271	WDR34	89891	HP:0000161	Median cleft lip
ORPHANET:93271	WDR34	89891	HP:0000343	Long philtrum
ORPHANET:93271	WDR34	89891	HP:0005280	Depressed nasal bridge
ORPHANET:93271	WDR34	89891	HP:0009826	Limb undergrowth
ORPHANET:93271	WDR34	89891	HP:0001162	Postaxial hand polydactyly
ORPHANET:93271	WDR34	89891	HP:0100627	Displacement of the external urethral meatus
ORPHANET:93271	WDR34	89891	HP:0001831	Short toe
ORPHANET:93271	WDR34	89891	HP:0002093	Respiratory insufficiency
ORPHANET:93271	WDR34	89891	HP:0000256	Macrocephaly
ORPHANET:93271	WDR34	89891	HP:0010306	Short thorax
ORPHANET:93271	WDR34	89891	HP:0000347	Micrognathia
ORPHANET:93271	WDR34	89891	HP:0000062	Ambiguous genitalia
ORPHANET:93271	WDR34	89891	HP:0000286	Epicanthus
ORPHANET:93271	WDR34	89891	HP:0002652	Skeletal dysplasia
ORPHANET:93271	WDR34	89891	HP:0001156	Brachydactyly syndrome
ORPHANET:93271	WDR34	89891	HP:0000772	Abnormality of the ribs
ORPHANET:93271	WDR34	89891	HP:0001177	Preaxial hand polydactyly
ORPHANET:93271	WDR34	89891	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:93271	WDR34	89891	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:93271	WDR34	89891	HP:0002119	Ventriculomegaly
ORPHANET:93271	WDR35	57539	HP:0000518	Cataract
ORPHANET:93271	WDR35	57539	HP:0000944	Abnormality of the metaphyses
ORPHANET:93271	WDR35	57539	HP:0002007	Frontal bossing
ORPHANET:93271	WDR35	57539	HP:0001789	Hydrops fetalis
ORPHANET:93271	WDR35	57539	HP:0000774	Narrow chest
ORPHANET:93271	WDR35	57539	HP:0001539	Omphalocele
ORPHANET:93271	WDR35	57539	HP:0000113	Polycystic kidney dysplasia
ORPHANET:93271	WDR35	57539	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:93271	WDR35	57539	HP:0000161	Median cleft lip
ORPHANET:93271	WDR35	57539	HP:0000343	Long philtrum
ORPHANET:93271	WDR35	57539	HP:0005280	Depressed nasal bridge
ORPHANET:93271	WDR35	57539	HP:0009826	Limb undergrowth
ORPHANET:93271	WDR35	57539	HP:0001162	Postaxial hand polydactyly
ORPHANET:93271	WDR35	57539	HP:0100627	Displacement of the external urethral meatus
ORPHANET:93271	WDR35	57539	HP:0001831	Short toe
ORPHANET:93271	WDR35	57539	HP:0002093	Respiratory insufficiency
ORPHANET:93271	WDR35	57539	HP:0000256	Macrocephaly
ORPHANET:93271	WDR35	57539	HP:0010306	Short thorax
ORPHANET:93271	WDR35	57539	HP:0000347	Micrognathia
ORPHANET:93271	WDR35	57539	HP:0000062	Ambiguous genitalia
ORPHANET:93271	WDR35	57539	HP:0000286	Epicanthus
ORPHANET:93271	WDR35	57539	HP:0002652	Skeletal dysplasia
ORPHANET:93271	WDR35	57539	HP:0001156	Brachydactyly syndrome
ORPHANET:93271	WDR35	57539	HP:0000772	Abnormality of the ribs
ORPHANET:93271	WDR35	57539	HP:0001177	Preaxial hand polydactyly
ORPHANET:93271	WDR35	57539	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:93271	WDR35	57539	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:93271	WDR35	57539	HP:0002119	Ventriculomegaly
ORPHANET:93271	IFT80	57560	HP:0000518	Cataract
ORPHANET:93271	IFT80	57560	HP:0000944	Abnormality of the metaphyses
ORPHANET:93271	IFT80	57560	HP:0002007	Frontal bossing
ORPHANET:93271	IFT80	57560	HP:0001789	Hydrops fetalis
ORPHANET:93271	IFT80	57560	HP:0000774	Narrow chest
ORPHANET:93271	IFT80	57560	HP:0001539	Omphalocele
ORPHANET:93271	IFT80	57560	HP:0000113	Polycystic kidney dysplasia
ORPHANET:93271	IFT80	57560	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:93271	IFT80	57560	HP:0000161	Median cleft lip
ORPHANET:93271	IFT80	57560	HP:0000343	Long philtrum
ORPHANET:93271	IFT80	57560	HP:0005280	Depressed nasal bridge
ORPHANET:93271	IFT80	57560	HP:0009826	Limb undergrowth
ORPHANET:93271	IFT80	57560	HP:0001162	Postaxial hand polydactyly
ORPHANET:93271	IFT80	57560	HP:0100627	Displacement of the external urethral meatus
ORPHANET:93271	IFT80	57560	HP:0001831	Short toe
ORPHANET:93271	IFT80	57560	HP:0002093	Respiratory insufficiency
ORPHANET:93271	IFT80	57560	HP:0000256	Macrocephaly
ORPHANET:93271	IFT80	57560	HP:0010306	Short thorax
ORPHANET:93271	IFT80	57560	HP:0000347	Micrognathia
ORPHANET:93271	IFT80	57560	HP:0000062	Ambiguous genitalia
ORPHANET:93271	IFT80	57560	HP:0000286	Epicanthus
ORPHANET:93271	IFT80	57560	HP:0002652	Skeletal dysplasia
ORPHANET:93271	IFT80	57560	HP:0001156	Brachydactyly syndrome
ORPHANET:93271	IFT80	57560	HP:0000772	Abnormality of the ribs
ORPHANET:93271	IFT80	57560	HP:0001177	Preaxial hand polydactyly
ORPHANET:93271	IFT80	57560	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:93271	IFT80	57560	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:93271	IFT80	57560	HP:0002119	Ventriculomegaly
ORPHANET:93271	WDR60	55112	HP:0000518	Cataract
ORPHANET:93271	WDR60	55112	HP:0000944	Abnormality of the metaphyses
ORPHANET:93271	WDR60	55112	HP:0002007	Frontal bossing
ORPHANET:93271	WDR60	55112	HP:0001789	Hydrops fetalis
ORPHANET:93271	WDR60	55112	HP:0000774	Narrow chest
ORPHANET:93271	WDR60	55112	HP:0001539	Omphalocele
ORPHANET:93271	WDR60	55112	HP:0000113	Polycystic kidney dysplasia
ORPHANET:93271	WDR60	55112	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:93271	WDR60	55112	HP:0000161	Median cleft lip
ORPHANET:93271	WDR60	55112	HP:0000343	Long philtrum
ORPHANET:93271	WDR60	55112	HP:0005280	Depressed nasal bridge
ORPHANET:93271	WDR60	55112	HP:0009826	Limb undergrowth
ORPHANET:93271	WDR60	55112	HP:0001162	Postaxial hand polydactyly
ORPHANET:93271	WDR60	55112	HP:0100627	Displacement of the external urethral meatus
ORPHANET:93271	WDR60	55112	HP:0001831	Short toe
ORPHANET:93271	WDR60	55112	HP:0002093	Respiratory insufficiency
ORPHANET:93271	WDR60	55112	HP:0000256	Macrocephaly
ORPHANET:93271	WDR60	55112	HP:0010306	Short thorax
ORPHANET:93271	WDR60	55112	HP:0000347	Micrognathia
ORPHANET:93271	WDR60	55112	HP:0000062	Ambiguous genitalia
ORPHANET:93271	WDR60	55112	HP:0000286	Epicanthus
ORPHANET:93271	WDR60	55112	HP:0002652	Skeletal dysplasia
ORPHANET:93271	WDR60	55112	HP:0001156	Brachydactyly syndrome
ORPHANET:93271	WDR60	55112	HP:0000772	Abnormality of the ribs
ORPHANET:93271	WDR60	55112	HP:0001177	Preaxial hand polydactyly
ORPHANET:93271	WDR60	55112	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:93271	WDR60	55112	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:93271	WDR60	55112	HP:0002119	Ventriculomegaly
ORPHANET:93271	DYNC2H1	79659	HP:0000518	Cataract
ORPHANET:93271	DYNC2H1	79659	HP:0000944	Abnormality of the metaphyses
ORPHANET:93271	DYNC2H1	79659	HP:0002007	Frontal bossing
ORPHANET:93271	DYNC2H1	79659	HP:0001789	Hydrops fetalis
ORPHANET:93271	DYNC2H1	79659	HP:0000774	Narrow chest
ORPHANET:93271	DYNC2H1	79659	HP:0001539	Omphalocele
ORPHANET:93271	DYNC2H1	79659	HP:0000113	Polycystic kidney dysplasia
ORPHANET:93271	DYNC2H1	79659	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:93271	DYNC2H1	79659	HP:0000161	Median cleft lip
ORPHANET:93271	DYNC2H1	79659	HP:0000343	Long philtrum
ORPHANET:93271	DYNC2H1	79659	HP:0005280	Depressed nasal bridge
ORPHANET:93271	DYNC2H1	79659	HP:0009826	Limb undergrowth
ORPHANET:93271	DYNC2H1	79659	HP:0001162	Postaxial hand polydactyly
ORPHANET:93271	DYNC2H1	79659	HP:0100627	Displacement of the external urethral meatus
ORPHANET:93271	DYNC2H1	79659	HP:0001831	Short toe
ORPHANET:93271	DYNC2H1	79659	HP:0002093	Respiratory insufficiency
ORPHANET:93271	DYNC2H1	79659	HP:0000256	Macrocephaly
ORPHANET:93271	DYNC2H1	79659	HP:0010306	Short thorax
ORPHANET:93271	DYNC2H1	79659	HP:0000347	Micrognathia
ORPHANET:93271	DYNC2H1	79659	HP:0000062	Ambiguous genitalia
ORPHANET:93271	DYNC2H1	79659	HP:0000286	Epicanthus
ORPHANET:93271	DYNC2H1	79659	HP:0002652	Skeletal dysplasia
ORPHANET:93271	DYNC2H1	79659	HP:0001156	Brachydactyly syndrome
ORPHANET:93271	DYNC2H1	79659	HP:0000772	Abnormality of the ribs
ORPHANET:93271	DYNC2H1	79659	HP:0001177	Preaxial hand polydactyly
ORPHANET:93271	DYNC2H1	79659	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:93271	DYNC2H1	79659	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:93271	DYNC2H1	79659	HP:0002119	Ventriculomegaly
OMIM:202400	FGA	2243	HP:0000421	Epistaxis
OMIM:202400	FGA	2243	HP:0000140	Abnormality of the menstrual cycle
OMIM:202400	FGA	2243	HP:0002170	Intracranial hemorrhage
OMIM:202400	FGA	2243	HP:0002239	Gastrointestinal hemorrhage
OMIM:202400	FGA	2243	HP:0000225	Gingival bleeding
OMIM:202400	FGA	2243	HP:0000007	Autosomal recessive inheritance
OMIM:202400	FGB	2244	HP:0000421	Epistaxis
OMIM:202400	FGB	2244	HP:0000140	Abnormality of the menstrual cycle
OMIM:202400	FGB	2244	HP:0002170	Intracranial hemorrhage
OMIM:202400	FGB	2244	HP:0002239	Gastrointestinal hemorrhage
OMIM:202400	FGB	2244	HP:0000225	Gingival bleeding
OMIM:202400	FGB	2244	HP:0000007	Autosomal recessive inheritance
OMIM:202400	FGG	2266	HP:0000421	Epistaxis
OMIM:202400	FGG	2266	HP:0000140	Abnormality of the menstrual cycle
OMIM:202400	FGG	2266	HP:0002170	Intracranial hemorrhage
OMIM:202400	FGG	2266	HP:0002239	Gastrointestinal hemorrhage
OMIM:202400	FGG	2266	HP:0000225	Gingival bleeding
OMIM:202400	FGG	2266	HP:0000007	Autosomal recessive inheritance
OMIM:614607	ARID1A	8289	HP:0000527	Long eyelashes
OMIM:614607	ARID1A	8289	HP:0001273	Abnormality of the corpus callosum
OMIM:614607	ARID1A	8289	HP:0001249	Intellectual disability
OMIM:614607	ARID1A	8289	HP:0011968	Feeding difficulties
OMIM:614607	ARID1A	8289	HP:0002209	Sparse scalp hair
OMIM:614607	ARID1A	8289	HP:0200105	Absent fifth toenail
OMIM:614607	ARID1A	8289	HP:0000154	Wide mouth
OMIM:614607	ARID1A	8289	HP:0000006	Autosomal dominant inheritance
OMIM:614607	ARID1A	8289	HP:0000179	Thick lower lip vermilion
OMIM:614607	ARID1A	8289	HP:0000280	Coarse facial features
OMIM:614607	ARID1A	8289	HP:0200104	Absent fifth fingernail
OMIM:614607	ARID1A	8289	HP:0002719	Recurrent infections
OMIM:614607	ARID1B	57492	HP:0000527	Long eyelashes
OMIM:614607	ARID1B	57492	HP:0001273	Abnormality of the corpus callosum
OMIM:614607	ARID1B	57492	HP:0001249	Intellectual disability
OMIM:614607	ARID1B	57492	HP:0011968	Feeding difficulties
OMIM:614607	ARID1B	57492	HP:0002209	Sparse scalp hair
OMIM:614607	ARID1B	57492	HP:0200105	Absent fifth toenail
OMIM:614607	ARID1B	57492	HP:0000154	Wide mouth
OMIM:614607	ARID1B	57492	HP:0000006	Autosomal dominant inheritance
OMIM:614607	ARID1B	57492	HP:0000179	Thick lower lip vermilion
OMIM:614607	ARID1B	57492	HP:0000280	Coarse facial features
OMIM:614607	ARID1B	57492	HP:0200104	Absent fifth fingernail
OMIM:614607	ARID1B	57492	HP:0002719	Recurrent infections
OMIM:614607	SMARCA4	6597	HP:0000527	Long eyelashes
OMIM:614607	SMARCA4	6597	HP:0001273	Abnormality of the corpus callosum
OMIM:614607	SMARCA4	6597	HP:0001249	Intellectual disability
OMIM:614607	SMARCA4	6597	HP:0011968	Feeding difficulties
OMIM:614607	SMARCA4	6597	HP:0002209	Sparse scalp hair
OMIM:614607	SMARCA4	6597	HP:0200105	Absent fifth toenail
OMIM:614607	SMARCA4	6597	HP:0000154	Wide mouth
OMIM:614607	SMARCA4	6597	HP:0000006	Autosomal dominant inheritance
OMIM:614607	SMARCA4	6597	HP:0000179	Thick lower lip vermilion
OMIM:614607	SMARCA4	6597	HP:0000280	Coarse facial features
OMIM:614607	SMARCA4	6597	HP:0200104	Absent fifth fingernail
OMIM:614607	SMARCA4	6597	HP:0002719	Recurrent infections
OMIM:614607	SMARCB1	6598	HP:0000527	Long eyelashes
OMIM:614607	SMARCB1	6598	HP:0001273	Abnormality of the corpus callosum
OMIM:614607	SMARCB1	6598	HP:0001249	Intellectual disability
OMIM:614607	SMARCB1	6598	HP:0011968	Feeding difficulties
OMIM:614607	SMARCB1	6598	HP:0002209	Sparse scalp hair
OMIM:614607	SMARCB1	6598	HP:0200105	Absent fifth toenail
OMIM:614607	SMARCB1	6598	HP:0000154	Wide mouth
OMIM:614607	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
OMIM:614607	SMARCB1	6598	HP:0000179	Thick lower lip vermilion
OMIM:614607	SMARCB1	6598	HP:0000280	Coarse facial features
OMIM:614607	SMARCB1	6598	HP:0200104	Absent fifth fingernail
OMIM:614607	SMARCB1	6598	HP:0002719	Recurrent infections
OMIM:614607	SOX11	6664	HP:0000527	Long eyelashes
OMIM:614607	SOX11	6664	HP:0001273	Abnormality of the corpus callosum
OMIM:614607	SOX11	6664	HP:0001249	Intellectual disability
OMIM:614607	SOX11	6664	HP:0011968	Feeding difficulties
OMIM:614607	SOX11	6664	HP:0002209	Sparse scalp hair
OMIM:614607	SOX11	6664	HP:0200105	Absent fifth toenail
OMIM:614607	SOX11	6664	HP:0000154	Wide mouth
OMIM:614607	SOX11	6664	HP:0000006	Autosomal dominant inheritance
OMIM:614607	SOX11	6664	HP:0000179	Thick lower lip vermilion
OMIM:614607	SOX11	6664	HP:0000280	Coarse facial features
OMIM:614607	SOX11	6664	HP:0200104	Absent fifth fingernail
OMIM:614607	SOX11	6664	HP:0002719	Recurrent infections
OMIM:614607	SMARCE1	6605	HP:0000527	Long eyelashes
OMIM:614607	SMARCE1	6605	HP:0001273	Abnormality of the corpus callosum
OMIM:614607	SMARCE1	6605	HP:0001249	Intellectual disability
OMIM:614607	SMARCE1	6605	HP:0011968	Feeding difficulties
OMIM:614607	SMARCE1	6605	HP:0002209	Sparse scalp hair
OMIM:614607	SMARCE1	6605	HP:0200105	Absent fifth toenail
OMIM:614607	SMARCE1	6605	HP:0000154	Wide mouth
OMIM:614607	SMARCE1	6605	HP:0000006	Autosomal dominant inheritance
OMIM:614607	SMARCE1	6605	HP:0000179	Thick lower lip vermilion
OMIM:614607	SMARCE1	6605	HP:0000280	Coarse facial features
OMIM:614607	SMARCE1	6605	HP:0200104	Absent fifth fingernail
OMIM:614607	SMARCE1	6605	HP:0002719	Recurrent infections
OMIM:300831	NSDHL	50814	HP:0000358	Posteriorly rotated ears
OMIM:300831	NSDHL	50814	HP:0000678	Dental crowding
OMIM:300831	NSDHL	50814	HP:0002126	Polymicrogyria
OMIM:300831	NSDHL	50814	HP:0001250	Seizures
OMIM:300831	NSDHL	50814	HP:0000278	Retrognathia
OMIM:300831	NSDHL	50814	HP:0000750	Delayed speech and language development
OMIM:300831	NSDHL	50814	HP:0001419	X-linked recessive inheritance
OMIM:300831	NSDHL	50814	HP:0000275	Narrow face
OMIM:300831	NSDHL	50814	HP:0000718	Aggressive behavior
OMIM:300831	NSDHL	50814	HP:0000252	Microcephaly
OMIM:300831	NSDHL	50814	HP:0000486	Strabismus
OMIM:300831	NSDHL	50814	HP:0000752	Hyperactivity
OMIM:300831	NSDHL	50814	HP:0001263	Global developmental delay
OMIM:300831	NSDHL	50814	HP:0000218	High palate
OMIM:300831	NSDHL	50814	HP:0001290	Generalized hypotonia
OMIM:300831	NSDHL	50814	HP:0003103	Abnormal cortical bone morphology
OMIM:300831	NSDHL	50814	HP:0002650	Scoliosis
OMIM:300831	NSDHL	50814	HP:0002360	Sleep disturbance
OMIM:300831	NSDHL	50814	HP:0000347	Micrognathia
OMIM:300831	NSDHL	50814	HP:0000276	Long face
OMIM:300831	NSDHL	50814	HP:0011297	Abnormality of digit
OMIM:300831	NSDHL	50814	HP:0000286	Epicanthus
OMIM:300831	NSDHL	50814	HP:0000737	Irritability
OMIM:300831	NSDHL	50814	HP:0001302	Pachygyria
OMIM:300831	NSDHL	50814	HP:0000582	Upslanted palpebral fissure
OMIM:300831	NSDHL	50814	HP:0001382	Joint hypermobility
OMIM:300831	NSDHL	50814	HP:0002808	Kyphosis
OMIM:300831	NSDHL	50814	HP:0000426	Prominent nasal bridge
OMIM:300831	NSDHL	50814	HP:0003307	Hyperlordosis
OMIM:300831	NSDHL	50814	HP:0001249	Intellectual disability
OMIM:300831	NSDHL	50814	HP:0000272	Malar flattening
OMIM:605376	CFC1	55997	HP:0000006	Autosomal dominant inheritance
OMIM:605376	CFC1	55997	HP:0003363	Abdominal situs inversus
OMIM:605376	CFC1	55997	HP:0006695	Atrioventricular canal defect
ORPHANET:2796	HPGD	3248	HP:0001061	Acne
ORPHANET:2796	HPGD	3248	HP:0008069	Neoplasm of the skin
ORPHANET:2796	HPGD	3248	HP:0002754	Osteomyelitis
ORPHANET:2796	HPGD	3248	HP:0002240	Hepatomegaly
ORPHANET:2796	HPGD	3248	HP:0004349	Reduced bone mineral density
ORPHANET:2796	HPGD	3248	HP:0002829	Arthralgia
ORPHANET:2796	HPGD	3248	HP:0100760	Clubbing of toes
ORPHANET:2796	HPGD	3248	HP:0002650	Scoliosis
ORPHANET:2796	HPGD	3248	HP:0000508	Ptosis
ORPHANET:2796	HPGD	3248	HP:0002797	Osteolysis
ORPHANET:2796	HPGD	3248	HP:0001965	Abnormality of the scalp
ORPHANET:2796	HPGD	3248	HP:0011362	Abnormal hair quantity
ORPHANET:2796	HPGD	3248	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:2796	HPGD	3248	HP:0001231	Abnormality of the fingernails
ORPHANET:2796	HPGD	3248	HP:0004295	Abnormality of the gastric mucosa
ORPHANET:2796	HPGD	3248	HP:0003103	Abnormal cortical bone morphology
ORPHANET:2796	HPGD	3248	HP:0002024	Malabsorption
ORPHANET:2796	HPGD	3248	HP:0000845	Growth hormone excess
ORPHANET:2796	HPGD	3248	HP:0002970	Genu varum
ORPHANET:2796	HPGD	3248	HP:0001744	Splenomegaly
ORPHANET:2796	HPGD	3248	HP:0000280	Coarse facial features
ORPHANET:2796	HPGD	3248	HP:0000982	Palmoplantar keratoderma
ORPHANET:2796	HPGD	3248	HP:0001369	Arthritis
ORPHANET:2796	HPGD	3248	HP:0004279	Short palm
ORPHANET:2796	HPGD	3248	HP:0002653	Bone pain
ORPHANET:2796	HPGD	3248	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:2796	HPGD	3248	HP:0001903	Anemia
ORPHANET:2796	HPGD	3248	HP:0100526	Neoplasm of the lung
ORPHANET:2796	HPGD	3248	HP:0000975	Hyperhidrosis
ORPHANET:2796	HPGD	3248	HP:0001376	Limitation of joint mobility
ORPHANET:2796	HPGD	3248	HP:0001051	Seborrheic dermatitis
ORPHANET:2796	SLCO2A1	6578	HP:0001061	Acne
ORPHANET:2796	SLCO2A1	6578	HP:0008069	Neoplasm of the skin
ORPHANET:2796	SLCO2A1	6578	HP:0002754	Osteomyelitis
ORPHANET:2796	SLCO2A1	6578	HP:0002240	Hepatomegaly
ORPHANET:2796	SLCO2A1	6578	HP:0004349	Reduced bone mineral density
ORPHANET:2796	SLCO2A1	6578	HP:0002829	Arthralgia
ORPHANET:2796	SLCO2A1	6578	HP:0100760	Clubbing of toes
ORPHANET:2796	SLCO2A1	6578	HP:0002650	Scoliosis
ORPHANET:2796	SLCO2A1	6578	HP:0000508	Ptosis
ORPHANET:2796	SLCO2A1	6578	HP:0002797	Osteolysis
ORPHANET:2796	SLCO2A1	6578	HP:0001965	Abnormality of the scalp
ORPHANET:2796	SLCO2A1	6578	HP:0011362	Abnormal hair quantity
ORPHANET:2796	SLCO2A1	6578	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:2796	SLCO2A1	6578	HP:0001231	Abnormality of the fingernails
ORPHANET:2796	SLCO2A1	6578	HP:0004295	Abnormality of the gastric mucosa
ORPHANET:2796	SLCO2A1	6578	HP:0003103	Abnormal cortical bone morphology
ORPHANET:2796	SLCO2A1	6578	HP:0002024	Malabsorption
ORPHANET:2796	SLCO2A1	6578	HP:0000845	Growth hormone excess
ORPHANET:2796	SLCO2A1	6578	HP:0002970	Genu varum
ORPHANET:2796	SLCO2A1	6578	HP:0001744	Splenomegaly
ORPHANET:2796	SLCO2A1	6578	HP:0000280	Coarse facial features
ORPHANET:2796	SLCO2A1	6578	HP:0000982	Palmoplantar keratoderma
ORPHANET:2796	SLCO2A1	6578	HP:0001369	Arthritis
ORPHANET:2796	SLCO2A1	6578	HP:0004279	Short palm
ORPHANET:2796	SLCO2A1	6578	HP:0002653	Bone pain
ORPHANET:2796	SLCO2A1	6578	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:2796	SLCO2A1	6578	HP:0001903	Anemia
ORPHANET:2796	SLCO2A1	6578	HP:0100526	Neoplasm of the lung
ORPHANET:2796	SLCO2A1	6578	HP:0000975	Hyperhidrosis
ORPHANET:2796	SLCO2A1	6578	HP:0001376	Limitation of joint mobility
ORPHANET:2796	SLCO2A1	6578	HP:0001051	Seborrheic dermatitis
OMIM:256731	CLN5	1203	HP:0001336	Myoclonus
OMIM:256731	CLN5	1203	HP:0001311	Abnormal nervous system electrophysiology
OMIM:256731	CLN5	1203	HP:0000007	Autosomal recessive inheritance
OMIM:256731	CLN5	1203	HP:0000546	Retinal degeneration
OMIM:256731	CLN5	1203	HP:0001260	Dysarthria
OMIM:256731	CLN5	1203	HP:0000639	Nystagmus
OMIM:256731	CLN5	1203	HP:0001310	Dysmetria
OMIM:256731	CLN5	1203	HP:0002075	Dysdiadochokinesis
OMIM:256731	CLN5	1203	HP:0002376	Developmental regression
OMIM:256731	CLN5	1203	HP:0001250	Seizures
OMIM:256731	CLN5	1203	HP:0000529	Progressive visual loss
OMIM:256731	CLN5	1203	HP:0001272	Cerebellar atrophy
OMIM:256731	CLN5	1203	HP:0001249	Intellectual disability
OMIM:122700	CYP2C9	1559	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:122700	CYP2C9	1559	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:122700	CYP2C9	1559	HP:0000006	Autosomal dominant inheritance
OMIM:122700	VKORC1	79001	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:122700	VKORC1	79001	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:122700	VKORC1	79001	HP:0000006	Autosomal dominant inheritance
OMIM:122700	CYP2A6	1548	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:122700	CYP2A6	1548	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:122700	CYP2A6	1548	HP:0000006	Autosomal dominant inheritance
OMIM:162400	ATL3	25923	HP:0000951	Abnormality of the skin
OMIM:162400	ATL3	25923	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:162400	ATL3	25923	HP:0002754	Osteomyelitis
OMIM:162400	ATL3	25923	HP:0002460	Distal muscle weakness
OMIM:162400	ATL3	25923	HP:0000006	Autosomal dominant inheritance
OMIM:162400	ATL3	25923	HP:0001265	Hyporeflexia
OMIM:162400	ATL3	25923	HP:0001284	Areflexia
OMIM:162400	ATL3	25923	HP:0000407	Sensorineural hearing impairment
OMIM:162400	ATL3	25923	HP:0001761	Pes cavus
OMIM:162400	ATL3	25923	HP:0002936	Distal sensory impairment
OMIM:162400	ATL3	25923	HP:0003202	Skeletal muscle atrophy
OMIM:162400	ATL1	51062	HP:0000951	Abnormality of the skin
OMIM:162400	ATL1	51062	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:162400	ATL1	51062	HP:0002754	Osteomyelitis
OMIM:162400	ATL1	51062	HP:0002460	Distal muscle weakness
OMIM:162400	ATL1	51062	HP:0000006	Autosomal dominant inheritance
OMIM:162400	ATL1	51062	HP:0001265	Hyporeflexia
OMIM:162400	ATL1	51062	HP:0001284	Areflexia
OMIM:162400	ATL1	51062	HP:0000407	Sensorineural hearing impairment
OMIM:162400	ATL1	51062	HP:0001761	Pes cavus
OMIM:162400	ATL1	51062	HP:0002936	Distal sensory impairment
OMIM:162400	ATL1	51062	HP:0003202	Skeletal muscle atrophy
OMIM:162400	SPTLC2	9517	HP:0000951	Abnormality of the skin
OMIM:162400	SPTLC2	9517	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:162400	SPTLC2	9517	HP:0002754	Osteomyelitis
OMIM:162400	SPTLC2	9517	HP:0002460	Distal muscle weakness
OMIM:162400	SPTLC2	9517	HP:0000006	Autosomal dominant inheritance
OMIM:162400	SPTLC2	9517	HP:0001265	Hyporeflexia
OMIM:162400	SPTLC2	9517	HP:0001284	Areflexia
OMIM:162400	SPTLC2	9517	HP:0000407	Sensorineural hearing impairment
OMIM:162400	SPTLC2	9517	HP:0001761	Pes cavus
OMIM:162400	SPTLC2	9517	HP:0002936	Distal sensory impairment
OMIM:162400	SPTLC2	9517	HP:0003202	Skeletal muscle atrophy
OMIM:162400	SPTLC1	10558	HP:0000951	Abnormality of the skin
OMIM:162400	SPTLC1	10558	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:162400	SPTLC1	10558	HP:0002754	Osteomyelitis
OMIM:162400	SPTLC1	10558	HP:0002460	Distal muscle weakness
OMIM:162400	SPTLC1	10558	HP:0000006	Autosomal dominant inheritance
OMIM:162400	SPTLC1	10558	HP:0001265	Hyporeflexia
OMIM:162400	SPTLC1	10558	HP:0001284	Areflexia
OMIM:162400	SPTLC1	10558	HP:0000407	Sensorineural hearing impairment
OMIM:162400	SPTLC1	10558	HP:0001761	Pes cavus
OMIM:162400	SPTLC1	10558	HP:0002936	Distal sensory impairment
OMIM:162400	SPTLC1	10558	HP:0003202	Skeletal muscle atrophy
OMIM:181405	TRPV4	59341	HP:0007178	Motor polyneuropathy
OMIM:181405	TRPV4	59341	HP:0002936	Distal sensory impairment
OMIM:181405	TRPV4	59341	HP:0003391	Gowers sign
OMIM:181405	TRPV4	59341	HP:0001840	Metatarsus adductus
OMIM:181405	TRPV4	59341	HP:0010628	Facial palsy
OMIM:181405	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:181405	TRPV4	59341	HP:0009049	Peroneal muscle atrophy
OMIM:181405	TRPV4	59341	HP:0003829	Incomplete penetrance
OMIM:181405	TRPV4	59341	HP:0001270	Motor delay
OMIM:181405	TRPV4	59341	HP:0001284	Areflexia
OMIM:181405	TRPV4	59341	HP:0003307	Hyperlordosis
OMIM:181405	TRPV4	59341	HP:0002808	Kyphosis
OMIM:181405	TRPV4	59341	HP:0002650	Scoliosis
OMIM:181405	TRPV4	59341	HP:0003691	Scapular winging
OMIM:181405	TRPV4	59341	HP:0011727	Peroneal muscle weakness
OMIM:181405	TRPV4	59341	HP:0200055	Small hand
OMIM:181405	TRPV4	59341	HP:0001265	Hyporeflexia
OMIM:181405	TRPV4	59341	HP:0001385	Hip dysplasia
OMIM:181405	TRPV4	59341	HP:0030084	Clinodactyly
OMIM:181405	TRPV4	59341	HP:0001762	Talipes equinovarus
OMIM:181405	TRPV4	59341	HP:0000473	Torticollis
OMIM:613582	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613582	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:613582	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	RLBP1	6017	HP:0011505	Cystoid macular edema
OMIM:613582	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613582	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613582	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:613582	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	SPATA7	55812	HP:0011505	Cystoid macular edema
OMIM:613582	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613582	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613582	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:613582	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	ARL6	84100	HP:0011505	Cystoid macular edema
OMIM:613582	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613582	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613582	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:613582	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	CERKL	375298	HP:0011505	Cystoid macular edema
OMIM:613582	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613582	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:613582	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PRPF31	26121	HP:0011505	Cystoid macular edema
OMIM:613582	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613582	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613582	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:613582	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	TTC8	123016	HP:0011505	Cystoid macular edema
OMIM:613582	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613582	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:613582	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PROM1	8842	HP:0011505	Cystoid macular edema
OMIM:613582	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613582	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613582	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:613582	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	LRAT	9227	HP:0011505	Cystoid macular edema
OMIM:613582	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613582	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613582	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:613582	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	IFT140	9742	HP:0011505	Cystoid macular edema
OMIM:613582	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613582	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613582	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:613582	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	BEST1	7439	HP:0011505	Cystoid macular edema
OMIM:613582	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613582	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613582	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:613582	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	NEK2	4751	HP:0011505	Cystoid macular edema
OMIM:613582	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613582	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613582	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:613582	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	ARL2BP	23568	HP:0011505	Cystoid macular edema
OMIM:613582	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613582	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613582	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:613582	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	NR2E3	10002	HP:0011505	Cystoid macular edema
OMIM:613582	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613582	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613582	EYS	346007	HP:0000543	Optic disc pallor
OMIM:613582	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	EYS	346007	HP:0011505	Cystoid macular edema
OMIM:613582	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613582	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613582	MAK	4117	HP:0000543	Optic disc pallor
OMIM:613582	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	MAK	4117	HP:0011505	Cystoid macular edema
OMIM:613582	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613582	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613582	SAG	6295	HP:0000543	Optic disc pallor
OMIM:613582	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	SAG	6295	HP:0011505	Cystoid macular edema
OMIM:613582	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613582	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613582	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:613582	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	ABCA4	24	HP:0011505	Cystoid macular edema
OMIM:613582	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613582	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:613582	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PDE6A	5145	HP:0011505	Cystoid macular edema
OMIM:613582	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613582	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:613582	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PDE6G	5148	HP:0011505	Cystoid macular edema
OMIM:613582	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613582	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613582	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:613582	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	IMPDH1	3614	HP:0011505	Cystoid macular edema
OMIM:613582	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613582	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613582	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:613582	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	OFD1	8481	HP:0011505	Cystoid macular edema
OMIM:613582	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613582	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613582	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:613582	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	GUCA1B	2979	HP:0011505	Cystoid macular edema
OMIM:613582	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613582	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613582	NRL	4901	HP:0000543	Optic disc pallor
OMIM:613582	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	NRL	4901	HP:0011505	Cystoid macular edema
OMIM:613582	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613582	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:613582	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PDE6B	5158	HP:0011505	Cystoid macular edema
OMIM:613582	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613582	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613582	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:613582	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	KLHL7	55975	HP:0011505	Cystoid macular edema
OMIM:613582	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613582	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:613582	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PRPF4	9128	HP:0011505	Cystoid macular edema
OMIM:613582	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613582	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:613582	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PRPF3	9129	HP:0011505	Cystoid macular edema
OMIM:613582	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613582	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613582	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:613582	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	FAM161A	84140	HP:0011505	Cystoid macular edema
OMIM:613582	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613582	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613582	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:613582	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	IFT172	26160	HP:0011505	Cystoid macular edema
OMIM:613582	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613582	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613582	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:613582	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	KIZ	55857	HP:0011505	Cystoid macular edema
OMIM:613582	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613582	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613582	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:613582	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	CDHR1	92211	HP:0011505	Cystoid macular edema
OMIM:613582	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613582	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613582	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:613582	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	ZNF408	79797	HP:0011505	Cystoid macular edema
OMIM:613582	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613582	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613582	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:613582	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	RBP3	5949	HP:0011505	Cystoid macular edema
OMIM:613582	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613582	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613582	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:613582	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	HGSNAT	138050	HP:0011505	Cystoid macular edema
OMIM:613582	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613582	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613582	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:613582	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	FSCN2	25794	HP:0011505	Cystoid macular edema
OMIM:613582	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613582	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:613582	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PRCD	768206	HP:0011505	Cystoid macular edema
OMIM:613582	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613582	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613582	BBS2	583	HP:0000543	Optic disc pallor
OMIM:613582	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	BBS2	583	HP:0011505	Cystoid macular edema
OMIM:613582	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613582	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613582	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:613582	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	RDH12	145226	HP:0011505	Cystoid macular edema
OMIM:613582	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613582	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:613582	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PRPH2	5961	HP:0011505	Cystoid macular edema
OMIM:613582	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613582	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613582	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:613582	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	DHDDS	79947	HP:0011505	Cystoid macular edema
OMIM:613582	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613582	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613582	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:613582	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	ROM1	6094	HP:0011505	Cystoid macular edema
OMIM:613582	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613582	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613582	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:613582	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	C2ORF71	388939	HP:0011505	Cystoid macular edema
OMIM:613582	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613582	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613582	RP9	6100	HP:0000543	Optic disc pallor
OMIM:613582	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	RP9	6100	HP:0011505	Cystoid macular edema
OMIM:613582	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613582	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:613582	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PRPF6	24148	HP:0011505	Cystoid macular edema
OMIM:613582	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613582	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613582	RP1	6101	HP:0000543	Optic disc pallor
OMIM:613582	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	RP1	6101	HP:0011505	Cystoid macular edema
OMIM:613582	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613582	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613582	RP2	6102	HP:0000543	Optic disc pallor
OMIM:613582	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	RP2	6102	HP:0011505	Cystoid macular edema
OMIM:613582	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613582	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613582	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:613582	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	RPGR	6103	HP:0011505	Cystoid macular edema
OMIM:613582	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613582	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613582	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:613582	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	SEMA4A	64218	HP:0011505	Cystoid macular edema
OMIM:613582	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613582	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613582	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:613582	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	C8ORF37	157657	HP:0011505	Cystoid macular edema
OMIM:613582	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613582	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613582	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:613582	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	IDH3B	3420	HP:0011505	Cystoid macular edema
OMIM:613582	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613582	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613582	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:613582	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	MERTK	10461	HP:0011505	Cystoid macular edema
OMIM:613582	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613582	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:613582	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	PRPF8	10594	HP:0011505	Cystoid macular edema
OMIM:613582	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613582	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613582	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:613582	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	TOPORS	10210	HP:0011505	Cystoid macular edema
OMIM:613582	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613582	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613582	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:613582	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	USH2A	7399	HP:0011505	Cystoid macular edema
OMIM:613582	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613582	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613582	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:613582	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	RPE65	6121	HP:0011505	Cystoid macular edema
OMIM:613582	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613582	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613582	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:613582	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	CLRN1	7401	HP:0011505	Cystoid macular edema
OMIM:613582	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613582	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613582	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:613582	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	CNGB1	1258	HP:0011505	Cystoid macular edema
OMIM:613582	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613582	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613582	RGR	5995	HP:0000543	Optic disc pallor
OMIM:613582	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	RGR	5995	HP:0011505	Cystoid macular edema
OMIM:613582	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613582	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613582	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:613582	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	CNGA1	1259	HP:0011505	Cystoid macular edema
OMIM:613582	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613582	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613582	TUB	7275	HP:0000543	Optic disc pallor
OMIM:613582	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	TUB	7275	HP:0011505	Cystoid macular edema
OMIM:613582	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613582	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613582	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:613582	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	SNRNP200	23020	HP:0011505	Cystoid macular edema
OMIM:613582	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613582	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613582	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:613582	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	SLC7A14	57709	HP:0011505	Cystoid macular edema
OMIM:613582	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613582	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613582	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:613582	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	TULP1	7287	HP:0011505	Cystoid macular edema
OMIM:613582	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613582	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613582	RHO	6010	HP:0000543	Optic disc pallor
OMIM:613582	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	RHO	6010	HP:0011505	Cystoid macular edema
OMIM:613582	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613582	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613582	CA4	762	HP:0000543	Optic disc pallor
OMIM:613582	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	CA4	762	HP:0011505	Cystoid macular edema
OMIM:613582	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613582	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613582	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:613582	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	CRB1	23418	HP:0011505	Cystoid macular edema
OMIM:613582	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613582	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613582	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:613582	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	IMPG2	50939	HP:0011505	Cystoid macular edema
OMIM:613582	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613582	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613582	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:613582	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	ZNF513	130557	HP:0011505	Cystoid macular edema
OMIM:613582	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613582	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613582	CRX	1406	HP:0000543	Optic disc pallor
OMIM:613582	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:613582	CRX	1406	HP:0011505	Cystoid macular edema
OMIM:613582	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:611943	RNF168	165918	HP:0001999	Abnormal facial shape
OMIM:611943	RNF168	165918	HP:0002721	Immunodeficiency
OMIM:611943	RNF168	165918	HP:0004315	IgG deficiency
OMIM:611943	RNF168	165918	HP:0001251	Ataxia
OMIM:611943	RNF168	165918	HP:0000007	Autosomal recessive inheritance
OMIM:611943	RNF168	165918	HP:0002206	Pulmonary fibrosis
OMIM:611943	RNF168	165918	HP:0000252	Microcephaly
OMIM:611943	RNF168	165918	HP:0000958	Dry skin
OMIM:611943	RNF168	165918	HP:0011342	Mild global developmental delay
OMIM:611943	RNF168	165918	HP:0004322	Short stature
OMIM:615527	IL17RC	84818	HP:0000007	Autosomal recessive inheritance
OMIM:615527	IL17RC	84818	HP:0000498	Blepharitis
OMIM:615527	IL17RC	84818	HP:0000158	Macroglossia
OMIM:615527	STAT1	6772	HP:0000007	Autosomal recessive inheritance
OMIM:615527	STAT1	6772	HP:0000498	Blepharitis
OMIM:615527	STAT1	6772	HP:0000158	Macroglossia
OMIM:615527	CLEC7A	64581	HP:0000007	Autosomal recessive inheritance
OMIM:615527	CLEC7A	64581	HP:0000498	Blepharitis
OMIM:615527	CLEC7A	64581	HP:0000158	Macroglossia
OMIM:615527	IL17RA	23765	HP:0000007	Autosomal recessive inheritance
OMIM:615527	IL17RA	23765	HP:0000498	Blepharitis
OMIM:615527	IL17RA	23765	HP:0000158	Macroglossia
OMIM:615527	TRAF3IP2	10758	HP:0000007	Autosomal recessive inheritance
OMIM:615527	TRAF3IP2	10758	HP:0000498	Blepharitis
OMIM:615527	TRAF3IP2	10758	HP:0000158	Macroglossia
OMIM:615527	IL17F	112744	HP:0000007	Autosomal recessive inheritance
OMIM:615527	IL17F	112744	HP:0000498	Blepharitis
OMIM:615527	IL17F	112744	HP:0000158	Macroglossia
OMIM:615527	CARD9	64170	HP:0000007	Autosomal recessive inheritance
OMIM:615527	CARD9	64170	HP:0000498	Blepharitis
OMIM:615527	CARD9	64170	HP:0000158	Macroglossia
OMIM:612650	DNAAF2	55172	HP:0004322	Short stature
OMIM:612650	DNAAF2	55172	HP:0011109	Chronic sinusitis
OMIM:612650	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:612650	DNAAF2	55172	HP:0003546	Exercise intolerance
OMIM:612650	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:612650	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
OMIM:612650	CCNO	10309	HP:0004322	Short stature
OMIM:612650	CCNO	10309	HP:0011109	Chronic sinusitis
OMIM:612650	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:612650	CCNO	10309	HP:0003546	Exercise intolerance
OMIM:612650	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:612650	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:612650	DNAAF5	54919	HP:0004322	Short stature
OMIM:612650	DNAAF5	54919	HP:0011109	Chronic sinusitis
OMIM:612650	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:612650	DNAAF5	54919	HP:0003546	Exercise intolerance
OMIM:612650	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:612650	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
OMIM:612650	DNAAF3	352909	HP:0004322	Short stature
OMIM:612650	DNAAF3	352909	HP:0011109	Chronic sinusitis
OMIM:612650	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:612650	DNAAF3	352909	HP:0003546	Exercise intolerance
OMIM:612650	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:612650	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:612650	DNAI1	27019	HP:0004322	Short stature
OMIM:612650	DNAI1	27019	HP:0011109	Chronic sinusitis
OMIM:612650	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:612650	DNAI1	27019	HP:0003546	Exercise intolerance
OMIM:612650	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:612650	DNAI1	27019	HP:0002205	Recurrent respiratory infections
OMIM:612650	DRC1	92749	HP:0004322	Short stature
OMIM:612650	DRC1	92749	HP:0011109	Chronic sinusitis
OMIM:612650	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:612650	DRC1	92749	HP:0003546	Exercise intolerance
OMIM:612650	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:612650	DRC1	92749	HP:0002205	Recurrent respiratory infections
OMIM:612650	SPAG1	6674	HP:0004322	Short stature
OMIM:612650	SPAG1	6674	HP:0011109	Chronic sinusitis
OMIM:612650	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:612650	SPAG1	6674	HP:0003546	Exercise intolerance
OMIM:612650	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:612650	SPAG1	6674	HP:0002205	Recurrent respiratory infections
OMIM:612650	RSPH3	83861	HP:0004322	Short stature
OMIM:612650	RSPH3	83861	HP:0011109	Chronic sinusitis
OMIM:612650	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:612650	RSPH3	83861	HP:0003546	Exercise intolerance
OMIM:612650	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:612650	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:612650	RPGR	6103	HP:0004322	Short stature
OMIM:612650	RPGR	6103	HP:0011109	Chronic sinusitis
OMIM:612650	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:612650	RPGR	6103	HP:0003546	Exercise intolerance
OMIM:612650	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:612650	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:612650	LRRC6	23639	HP:0004322	Short stature
OMIM:612650	LRRC6	23639	HP:0011109	Chronic sinusitis
OMIM:612650	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:612650	LRRC6	23639	HP:0003546	Exercise intolerance
OMIM:612650	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:612650	LRRC6	23639	HP:0002205	Recurrent respiratory infections
OMIM:612650	DNAL1	83544	HP:0004322	Short stature
OMIM:612650	DNAL1	83544	HP:0011109	Chronic sinusitis
OMIM:612650	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:612650	DNAL1	83544	HP:0003546	Exercise intolerance
OMIM:612650	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:612650	DNAL1	83544	HP:0002205	Recurrent respiratory infections
OMIM:612650	ARMC4	55130	HP:0004322	Short stature
OMIM:612650	ARMC4	55130	HP:0011109	Chronic sinusitis
OMIM:612650	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:612650	ARMC4	55130	HP:0003546	Exercise intolerance
OMIM:612650	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:612650	ARMC4	55130	HP:0002205	Recurrent respiratory infections
OMIM:612650	CCDC103	388389	HP:0004322	Short stature
OMIM:612650	CCDC103	388389	HP:0011109	Chronic sinusitis
OMIM:612650	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:612650	CCDC103	388389	HP:0003546	Exercise intolerance
OMIM:612650	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:612650	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:612650	OFD1	8481	HP:0004322	Short stature
OMIM:612650	OFD1	8481	HP:0011109	Chronic sinusitis
OMIM:612650	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:612650	OFD1	8481	HP:0003546	Exercise intolerance
OMIM:612650	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:612650	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:612650	DNAAF1	123872	HP:0004322	Short stature
OMIM:612650	DNAAF1	123872	HP:0011109	Chronic sinusitis
OMIM:612650	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:612650	DNAAF1	123872	HP:0003546	Exercise intolerance
OMIM:612650	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:612650	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
OMIM:612650	RSPH4A	345895	HP:0004322	Short stature
OMIM:612650	RSPH4A	345895	HP:0011109	Chronic sinusitis
OMIM:612650	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:612650	RSPH4A	345895	HP:0003546	Exercise intolerance
OMIM:612650	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:612650	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
OMIM:612650	RSPH1	89765	HP:0004322	Short stature
OMIM:612650	RSPH1	89765	HP:0011109	Chronic sinusitis
OMIM:612650	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:612650	RSPH1	89765	HP:0003546	Exercise intolerance
OMIM:612650	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:612650	RSPH1	89765	HP:0002205	Recurrent respiratory infections
OMIM:612650	ZMYND10	51364	HP:0004322	Short stature
OMIM:612650	ZMYND10	51364	HP:0011109	Chronic sinusitis
OMIM:612650	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:612650	ZMYND10	51364	HP:0003546	Exercise intolerance
OMIM:612650	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:612650	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
OMIM:612650	DNAH5	1767	HP:0004322	Short stature
OMIM:612650	DNAH5	1767	HP:0011109	Chronic sinusitis
OMIM:612650	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:612650	DNAH5	1767	HP:0003546	Exercise intolerance
OMIM:612650	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:612650	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:612650	CCDC65	85478	HP:0004322	Short stature
OMIM:612650	CCDC65	85478	HP:0011109	Chronic sinusitis
OMIM:612650	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:612650	CCDC65	85478	HP:0003546	Exercise intolerance
OMIM:612650	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:612650	CCDC65	85478	HP:0002205	Recurrent respiratory infections
OMIM:612650	C21ORF59	56683	HP:0004322	Short stature
OMIM:612650	C21ORF59	56683	HP:0011109	Chronic sinusitis
OMIM:612650	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:612650	C21ORF59	56683	HP:0003546	Exercise intolerance
OMIM:612650	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:612650	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
OMIM:612650	DYX1C1	161582	HP:0004322	Short stature
OMIM:612650	DYX1C1	161582	HP:0011109	Chronic sinusitis
OMIM:612650	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:612650	DYX1C1	161582	HP:0003546	Exercise intolerance
OMIM:612650	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:612650	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
OMIM:612650	CCDC151	115948	HP:0004322	Short stature
OMIM:612650	CCDC151	115948	HP:0011109	Chronic sinusitis
OMIM:612650	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:612650	CCDC151	115948	HP:0003546	Exercise intolerance
OMIM:612650	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:612650	CCDC151	115948	HP:0002205	Recurrent respiratory infections
OMIM:612650	RSPH9	221421	HP:0004322	Short stature
OMIM:612650	RSPH9	221421	HP:0011109	Chronic sinusitis
OMIM:612650	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:612650	RSPH9	221421	HP:0003546	Exercise intolerance
OMIM:612650	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:612650	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:612650	CCDC39	339829	HP:0004322	Short stature
OMIM:612650	CCDC39	339829	HP:0011109	Chronic sinusitis
OMIM:612650	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:612650	CCDC39	339829	HP:0003546	Exercise intolerance
OMIM:612650	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:612650	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:612650	HYDIN	54768	HP:0004322	Short stature
OMIM:612650	HYDIN	54768	HP:0011109	Chronic sinusitis
OMIM:612650	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:612650	HYDIN	54768	HP:0003546	Exercise intolerance
OMIM:612650	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:612650	HYDIN	54768	HP:0002205	Recurrent respiratory infections
OMIM:612650	CCDC114	93233	HP:0004322	Short stature
OMIM:612650	CCDC114	93233	HP:0011109	Chronic sinusitis
OMIM:612650	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:612650	CCDC114	93233	HP:0003546	Exercise intolerance
OMIM:612650	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:612650	CCDC114	93233	HP:0002205	Recurrent respiratory infections
OMIM:612650	NME8	51314	HP:0004322	Short stature
OMIM:612650	NME8	51314	HP:0011109	Chronic sinusitis
OMIM:612650	NME8	51314	HP:0002110	Bronchiectasis
OMIM:612650	NME8	51314	HP:0003546	Exercise intolerance
OMIM:612650	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:612650	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:612650	CCDC40	55036	HP:0004322	Short stature
OMIM:612650	CCDC40	55036	HP:0011109	Chronic sinusitis
OMIM:612650	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:612650	CCDC40	55036	HP:0003546	Exercise intolerance
OMIM:612650	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:612650	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:612650	DNAH11	8701	HP:0004322	Short stature
OMIM:612650	DNAH11	8701	HP:0011109	Chronic sinusitis
OMIM:612650	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:612650	DNAH11	8701	HP:0003546	Exercise intolerance
OMIM:612650	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:612650	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:612650	DNAI2	64446	HP:0004322	Short stature
OMIM:612650	DNAI2	64446	HP:0011109	Chronic sinusitis
OMIM:612650	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:612650	DNAI2	64446	HP:0003546	Exercise intolerance
OMIM:612650	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:612650	DNAI2	64446	HP:0002205	Recurrent respiratory infections
OMIM:612650	GAS8	2622	HP:0004322	Short stature
OMIM:612650	GAS8	2622	HP:0011109	Chronic sinusitis
OMIM:612650	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:612650	GAS8	2622	HP:0003546	Exercise intolerance
OMIM:612650	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:612650	GAS8	2622	HP:0002205	Recurrent respiratory infections
OMIM:137580	SLITRK1	114798	HP:0100034	Motor tics
OMIM:137580	SLITRK1	114798	HP:0002360	Sleep disturbance
OMIM:137580	SLITRK1	114798	HP:0000742	Self-mutilation
OMIM:137580	SLITRK1	114798	HP:0000006	Autosomal dominant inheritance
OMIM:137580	SLITRK1	114798	HP:0000718	Aggressive behavior
OMIM:137580	SLITRK1	114798	HP:0007018	Attention deficit hyperactivity disorder
OMIM:137580	SLITRK1	114798	HP:0000722	Obsessive-compulsive behavior
OMIM:615235	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:615235	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:615235	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:615235	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:615235	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:615235	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:615235	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:615235	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:615235	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:615235	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:615235	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:615235	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:615235	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:615235	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:615235	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:615235	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:615235	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:615235	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:615235	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:615235	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:615235	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:615235	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:615235	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:615235	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:615235	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:615235	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:615235	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:615235	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:615235	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:615235	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:615235	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:615235	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:615235	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:615235	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:615235	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:615235	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:615235	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:615235	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:615235	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:615235	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:615235	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:615235	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:615235	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:615235	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:615235	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:615235	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:615235	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:615235	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:615235	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:615235	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:615235	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:615235	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:615235	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:615235	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:615235	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:615235	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:615235	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:615235	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:615235	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:615235	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:615235	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:615235	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:615235	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:615235	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:615235	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:615235	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:615235	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:615235	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:615235	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:615235	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:615235	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:615235	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:615235	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:615235	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:615235	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:615235	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:615235	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:615235	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
ORPHANET:1896	TP63	8626	HP:0000632	Lacrimation abnormality
ORPHANET:1896	TP63	8626	HP:0008572	External ear malformation
ORPHANET:1896	TP63	8626	HP:0004322	Short stature
ORPHANET:1896	TP63	8626	HP:0000670	Carious teeth
ORPHANET:1896	TP63	8626	HP:0000613	Photophobia
ORPHANET:1896	TP63	8626	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:1896	TP63	8626	HP:0000574	Thick eyebrow
ORPHANET:1896	TP63	8626	HP:0000962	Hyperkeratosis
ORPHANET:1896	TP63	8626	HP:0000691	Microdontia
ORPHANET:1896	TP63	8626	HP:0000958	Dry skin
ORPHANET:1896	TP63	8626	HP:0001231	Abnormality of the fingernails
ORPHANET:1896	TP63	8626	HP:0000217	Xerostomia
ORPHANET:1896	TP63	8626	HP:0000370	Abnormality of the middle ear
ORPHANET:1896	TP63	8626	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1896	TP63	8626	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHANET:1896	TP63	8626	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1896	TP63	8626	HP:0000679	Taurodontia
ORPHANET:1896	TP63	8626	HP:0007513	Generalized hypopigmentation
ORPHANET:1896	TP63	8626	HP:0000492	Abnormality of the eyelid
ORPHANET:1896	TP63	8626	HP:0001770	Toe syndactyly
ORPHANET:1896	TP63	8626	HP:0000407	Sensorineural hearing impairment
ORPHANET:1896	TP63	8626	HP:0002213	Fine hair
ORPHANET:1896	TP63	8626	HP:0009623	Proximal placement of thumb
ORPHANET:1896	TP63	8626	HP:0008388	Abnormality of the toenails
ORPHANET:1896	TP63	8626	HP:0002217	Slow-growing hair
ORPHANET:1896	TP63	8626	HP:0002665	Lymphoma
ORPHANET:1896	TP63	8626	HP:0000830	Anterior hypopituitarism
ORPHANET:1896	TP63	8626	HP:0000966	Hypohidrosis
ORPHANET:1896	TP63	8626	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHANET:1896	TP63	8626	HP:0001171	Split hand
ORPHANET:1896	TP63	8626	HP:0009804	Reduced number of teeth
ORPHANET:1896	TP63	8626	HP:0000453	Choanal atresia
ORPHANET:1896	TP63	8626	HP:0000682	Abnormality of dental enamel
ORPHANET:1896	TP63	8626	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1896	TP63	8626	HP:0002208	Coarse hair
ORPHANET:1896	TP63	8626	HP:0100543	Cognitive impairment
ORPHANET:1896	TP63	8626	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:1896	TP63	8626	HP:0006101	Finger syndactyly
ORPHANET:1896	TP63	8626	HP:0000076	Vesicoureteral reflux
ORPHANET:1896	TP63	8626	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:1896	TP63	8626	HP:0000175	Cleft palate
OMIM:300696	FHL1	2273	HP:0000470	Short neck
OMIM:300696	FHL1	2273	HP:0003805	Rimmed vacuoles
OMIM:300696	FHL1	2273	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300696	FHL1	2273	HP:0001371	Flexion contracture
OMIM:300696	FHL1	2273	HP:0003676	Progressive
OMIM:300696	FHL1	2273	HP:0001419	X-linked recessive inheritance
OMIM:300696	FHL1	2273	HP:0011675	Arrhythmia
OMIM:300696	FHL1	2273	HP:0003691	Scapular winging
OMIM:300696	FHL1	2273	HP:0002093	Respiratory insufficiency
OMIM:300696	FHL1	2273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300696	FHL1	2273	HP:0003306	Spinal rigidity
OMIM:300696	FHL1	2273	HP:0003701	Proximal muscle weakness
OMIM:300696	EMD	2010	HP:0000470	Short neck
OMIM:300696	EMD	2010	HP:0003805	Rimmed vacuoles
OMIM:300696	EMD	2010	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300696	EMD	2010	HP:0001371	Flexion contracture
OMIM:300696	EMD	2010	HP:0003676	Progressive
OMIM:300696	EMD	2010	HP:0001419	X-linked recessive inheritance
OMIM:300696	EMD	2010	HP:0011675	Arrhythmia
OMIM:300696	EMD	2010	HP:0003691	Scapular winging
OMIM:300696	EMD	2010	HP:0002093	Respiratory insufficiency
OMIM:300696	EMD	2010	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300696	EMD	2010	HP:0003306	Spinal rigidity
OMIM:300696	EMD	2010	HP:0003701	Proximal muscle weakness
OMIM:610743	SYNE1	23345	HP:0000639	Nystagmus
OMIM:610743	SYNE1	23345	HP:0001272	Cerebellar atrophy
OMIM:610743	SYNE1	23345	HP:0001260	Dysarthria
OMIM:610743	SYNE1	23345	HP:0002066	Gait ataxia
OMIM:610743	SYNE1	23345	HP:0001310	Dysmetria
OMIM:610743	SYNE1	23345	HP:0002311	Incoordination
OMIM:610743	SYNE1	23345	HP:0002070	Limb ataxia
OMIM:600132	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:600132	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:600132	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:600132	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:600132	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:600132	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:600132	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:600132	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:600132	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:600132	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:600132	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:600132	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:600132	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:600132	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:600132	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:600132	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:600132	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:600132	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:600132	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:600132	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:600132	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:600132	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:600132	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:600132	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:600132	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:600132	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:600132	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:600132	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:600132	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:600132	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:600132	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:600132	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:600132	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:600132	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:600132	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:600132	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:600132	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:600132	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:600132	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:600132	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:600132	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:600132	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:600132	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:600132	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:600132	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:600132	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:600132	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:600132	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:600132	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:600132	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:600132	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:600132	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:600132	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:600132	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:600132	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:600132	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:600132	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:600132	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:600132	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:600132	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:600132	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:600132	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:600132	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:600132	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:600132	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:600132	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:600132	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:600132	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:600132	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:600132	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:600132	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:600132	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:600132	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:600132	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:600132	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:600132	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:600132	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:600132	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:600132	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:600132	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:600132	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:600132	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:600132	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:600132	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:600132	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:600132	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:600132	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:600132	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:600132	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:600132	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:600132	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:600132	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:600132	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:600132	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:600132	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:600132	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:600132	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:600132	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:600132	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:600132	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:600132	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:600132	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:600132	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:600132	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:600132	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:600132	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:600132	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:600132	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:600132	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:600132	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:600132	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:600132	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:600132	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:600132	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:600132	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:600132	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:600132	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:600132	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:600132	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:600132	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:600132	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:600132	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:600132	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:600132	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:600132	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:600132	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:600132	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:600132	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:600132	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:600132	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:600132	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:600132	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:600132	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:600132	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:600132	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:600132	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:600132	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:600132	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:300910	PLS3	5358	HP:0000939	Osteoporosis
OMIM:300910	PLS3	5358	HP:0000938	Osteopenia
OMIM:300910	PLS3	5358	HP:0001423	X-linked dominant inheritance
OMIM:255200	BIN1	274	HP:0003391	Gowers sign
OMIM:255200	BIN1	274	HP:0001256	Intellectual disability, mild
OMIM:255200	BIN1	274	HP:0001284	Areflexia
OMIM:255200	BIN1	274	HP:0001319	Neonatal hypotonia
OMIM:255200	BIN1	274	HP:0002650	Scoliosis
OMIM:255200	BIN1	274	HP:0001371	Flexion contracture
OMIM:255200	BIN1	274	HP:0008872	Feeding difficulties in infancy
OMIM:255200	BIN1	274	HP:0000276	Long face
OMIM:255200	BIN1	274	HP:0000602	Ophthalmoplegia
OMIM:255200	BIN1	274	HP:0001618	Dysphonia
OMIM:255200	BIN1	274	HP:0000007	Autosomal recessive inheritance
OMIM:255200	BIN1	274	HP:0000508	Ptosis
OMIM:255200	BIN1	274	HP:0001762	Talipes equinovarus
OMIM:255200	BIN1	274	HP:0002808	Kyphosis
OMIM:255200	BIN1	274	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255200	BIN1	274	HP:0003691	Scapular winging
OMIM:255200	BIN1	274	HP:0000218	High palate
OMIM:255200	BIN1	274	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255200	BIN1	274	HP:0010628	Facial palsy
OMIM:255200	BIN1	274	HP:0003674	Onset
OMIM:255200	BIN1	274	HP:0001260	Dysarthria
OMIM:255200	BIN1	274	HP:0002515	Waddling gait
OMIM:255200	BIN1	274	HP:0001270	Motor delay
OMIM:255200	BIN1	274	HP:0003458	EMG: myopathic abnormalities
OMIM:255200	BIN1	274	HP:0001761	Pes cavus
OMIM:255200	BIN1	274	HP:0002460	Distal muscle weakness
OMIM:255200	BIN1	274	HP:0003307	Hyperlordosis
OMIM:255200	SPEG	10290	HP:0003391	Gowers sign
OMIM:255200	SPEG	10290	HP:0001256	Intellectual disability, mild
OMIM:255200	SPEG	10290	HP:0001284	Areflexia
OMIM:255200	SPEG	10290	HP:0001319	Neonatal hypotonia
OMIM:255200	SPEG	10290	HP:0002650	Scoliosis
OMIM:255200	SPEG	10290	HP:0001371	Flexion contracture
OMIM:255200	SPEG	10290	HP:0008872	Feeding difficulties in infancy
OMIM:255200	SPEG	10290	HP:0000276	Long face
OMIM:255200	SPEG	10290	HP:0000602	Ophthalmoplegia
OMIM:255200	SPEG	10290	HP:0001618	Dysphonia
OMIM:255200	SPEG	10290	HP:0000007	Autosomal recessive inheritance
OMIM:255200	SPEG	10290	HP:0000508	Ptosis
OMIM:255200	SPEG	10290	HP:0001762	Talipes equinovarus
OMIM:255200	SPEG	10290	HP:0002808	Kyphosis
OMIM:255200	SPEG	10290	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255200	SPEG	10290	HP:0003691	Scapular winging
OMIM:255200	SPEG	10290	HP:0000218	High palate
OMIM:255200	SPEG	10290	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255200	SPEG	10290	HP:0010628	Facial palsy
OMIM:255200	SPEG	10290	HP:0003674	Onset
OMIM:255200	SPEG	10290	HP:0001260	Dysarthria
OMIM:255200	SPEG	10290	HP:0002515	Waddling gait
OMIM:255200	SPEG	10290	HP:0001270	Motor delay
OMIM:255200	SPEG	10290	HP:0003458	EMG: myopathic abnormalities
OMIM:255200	SPEG	10290	HP:0001761	Pes cavus
OMIM:255200	SPEG	10290	HP:0002460	Distal muscle weakness
OMIM:255200	SPEG	10290	HP:0003307	Hyperlordosis
OMIM:255200	TTN	7273	HP:0003391	Gowers sign
OMIM:255200	TTN	7273	HP:0001256	Intellectual disability, mild
OMIM:255200	TTN	7273	HP:0001284	Areflexia
OMIM:255200	TTN	7273	HP:0001319	Neonatal hypotonia
OMIM:255200	TTN	7273	HP:0002650	Scoliosis
OMIM:255200	TTN	7273	HP:0001371	Flexion contracture
OMIM:255200	TTN	7273	HP:0008872	Feeding difficulties in infancy
OMIM:255200	TTN	7273	HP:0000276	Long face
OMIM:255200	TTN	7273	HP:0000602	Ophthalmoplegia
OMIM:255200	TTN	7273	HP:0001618	Dysphonia
OMIM:255200	TTN	7273	HP:0000007	Autosomal recessive inheritance
OMIM:255200	TTN	7273	HP:0000508	Ptosis
OMIM:255200	TTN	7273	HP:0001762	Talipes equinovarus
OMIM:255200	TTN	7273	HP:0002808	Kyphosis
OMIM:255200	TTN	7273	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255200	TTN	7273	HP:0003691	Scapular winging
OMIM:255200	TTN	7273	HP:0000218	High palate
OMIM:255200	TTN	7273	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255200	TTN	7273	HP:0010628	Facial palsy
OMIM:255200	TTN	7273	HP:0003674	Onset
OMIM:255200	TTN	7273	HP:0001260	Dysarthria
OMIM:255200	TTN	7273	HP:0002515	Waddling gait
OMIM:255200	TTN	7273	HP:0001270	Motor delay
OMIM:255200	TTN	7273	HP:0003458	EMG: myopathic abnormalities
OMIM:255200	TTN	7273	HP:0001761	Pes cavus
OMIM:255200	TTN	7273	HP:0002460	Distal muscle weakness
OMIM:255200	TTN	7273	HP:0003307	Hyperlordosis
OMIM:613800	CDT1	81620	HP:0000319	Smooth philtrum
OMIM:613800	CDT1	81620	HP:0000007	Autosomal recessive inheritance
OMIM:613800	CDT1	81620	HP:0000430	Underdeveloped nasal alae
OMIM:613800	CDT1	81620	HP:0002779	Tracheomalacia
OMIM:613800	CDT1	81620	HP:0001382	Joint hypermobility
OMIM:613800	CDT1	81620	HP:0000347	Micrognathia
OMIM:613800	CDT1	81620	HP:0001511	Intrauterine growth retardation
OMIM:613800	CDT1	81620	HP:0000268	Dolichocephaly
OMIM:613800	CDT1	81620	HP:0000057	Clitoromegaly
OMIM:613800	CDT1	81620	HP:0000252	Microcephaly
OMIM:613800	CDT1	81620	HP:0000160	Narrow mouth
OMIM:613800	CDT1	81620	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:613800	CDT1	81620	HP:0001508	Failure to thrive
OMIM:613800	CDT1	81620	HP:0001620	High pitched voice
OMIM:613800	CDT1	81620	HP:0002780	Bronchomalacia
OMIM:613800	CDT1	81620	HP:0003100	Slender long bone
OMIM:613800	CDT1	81620	HP:0008551	Microtia
OMIM:613800	CDT1	81620	HP:0002020	Gastroesophageal reflux
OMIM:613800	CDT1	81620	HP:0002750	Delayed skeletal maturation
OMIM:613800	CDT1	81620	HP:0011968	Feeding difficulties
OMIM:613800	ORC1	4998	HP:0000319	Smooth philtrum
OMIM:613800	ORC1	4998	HP:0000007	Autosomal recessive inheritance
OMIM:613800	ORC1	4998	HP:0000430	Underdeveloped nasal alae
OMIM:613800	ORC1	4998	HP:0002779	Tracheomalacia
OMIM:613800	ORC1	4998	HP:0001382	Joint hypermobility
OMIM:613800	ORC1	4998	HP:0000347	Micrognathia
OMIM:613800	ORC1	4998	HP:0001511	Intrauterine growth retardation
OMIM:613800	ORC1	4998	HP:0000268	Dolichocephaly
OMIM:613800	ORC1	4998	HP:0000057	Clitoromegaly
OMIM:613800	ORC1	4998	HP:0000252	Microcephaly
OMIM:613800	ORC1	4998	HP:0000160	Narrow mouth
OMIM:613800	ORC1	4998	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:613800	ORC1	4998	HP:0001508	Failure to thrive
OMIM:613800	ORC1	4998	HP:0001620	High pitched voice
OMIM:613800	ORC1	4998	HP:0002780	Bronchomalacia
OMIM:613800	ORC1	4998	HP:0003100	Slender long bone
OMIM:613800	ORC1	4998	HP:0008551	Microtia
OMIM:613800	ORC1	4998	HP:0002020	Gastroesophageal reflux
OMIM:613800	ORC1	4998	HP:0002750	Delayed skeletal maturation
OMIM:613800	ORC1	4998	HP:0011968	Feeding difficulties
OMIM:613800	ORC4	5000	HP:0000319	Smooth philtrum
OMIM:613800	ORC4	5000	HP:0000007	Autosomal recessive inheritance
OMIM:613800	ORC4	5000	HP:0000430	Underdeveloped nasal alae
OMIM:613800	ORC4	5000	HP:0002779	Tracheomalacia
OMIM:613800	ORC4	5000	HP:0001382	Joint hypermobility
OMIM:613800	ORC4	5000	HP:0000347	Micrognathia
OMIM:613800	ORC4	5000	HP:0001511	Intrauterine growth retardation
OMIM:613800	ORC4	5000	HP:0000268	Dolichocephaly
OMIM:613800	ORC4	5000	HP:0000057	Clitoromegaly
OMIM:613800	ORC4	5000	HP:0000252	Microcephaly
OMIM:613800	ORC4	5000	HP:0000160	Narrow mouth
OMIM:613800	ORC4	5000	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:613800	ORC4	5000	HP:0001508	Failure to thrive
OMIM:613800	ORC4	5000	HP:0001620	High pitched voice
OMIM:613800	ORC4	5000	HP:0002780	Bronchomalacia
OMIM:613800	ORC4	5000	HP:0003100	Slender long bone
OMIM:613800	ORC4	5000	HP:0008551	Microtia
OMIM:613800	ORC4	5000	HP:0002020	Gastroesophageal reflux
OMIM:613800	ORC4	5000	HP:0002750	Delayed skeletal maturation
OMIM:613800	ORC4	5000	HP:0011968	Feeding difficulties
OMIM:613800	ORC6	23594	HP:0000319	Smooth philtrum
OMIM:613800	ORC6	23594	HP:0000007	Autosomal recessive inheritance
OMIM:613800	ORC6	23594	HP:0000430	Underdeveloped nasal alae
OMIM:613800	ORC6	23594	HP:0002779	Tracheomalacia
OMIM:613800	ORC6	23594	HP:0001382	Joint hypermobility
OMIM:613800	ORC6	23594	HP:0000347	Micrognathia
OMIM:613800	ORC6	23594	HP:0001511	Intrauterine growth retardation
OMIM:613800	ORC6	23594	HP:0000268	Dolichocephaly
OMIM:613800	ORC6	23594	HP:0000057	Clitoromegaly
OMIM:613800	ORC6	23594	HP:0000252	Microcephaly
OMIM:613800	ORC6	23594	HP:0000160	Narrow mouth
OMIM:613800	ORC6	23594	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:613800	ORC6	23594	HP:0001508	Failure to thrive
OMIM:613800	ORC6	23594	HP:0001620	High pitched voice
OMIM:613800	ORC6	23594	HP:0002780	Bronchomalacia
OMIM:613800	ORC6	23594	HP:0003100	Slender long bone
OMIM:613800	ORC6	23594	HP:0008551	Microtia
OMIM:613800	ORC6	23594	HP:0002020	Gastroesophageal reflux
OMIM:613800	ORC6	23594	HP:0002750	Delayed skeletal maturation
OMIM:613800	ORC6	23594	HP:0011968	Feeding difficulties
OMIM:613800	CDC6	990	HP:0000319	Smooth philtrum
OMIM:613800	CDC6	990	HP:0000007	Autosomal recessive inheritance
OMIM:613800	CDC6	990	HP:0000430	Underdeveloped nasal alae
OMIM:613800	CDC6	990	HP:0002779	Tracheomalacia
OMIM:613800	CDC6	990	HP:0001382	Joint hypermobility
OMIM:613800	CDC6	990	HP:0000347	Micrognathia
OMIM:613800	CDC6	990	HP:0001511	Intrauterine growth retardation
OMIM:613800	CDC6	990	HP:0000268	Dolichocephaly
OMIM:613800	CDC6	990	HP:0000057	Clitoromegaly
OMIM:613800	CDC6	990	HP:0000252	Microcephaly
OMIM:613800	CDC6	990	HP:0000160	Narrow mouth
OMIM:613800	CDC6	990	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:613800	CDC6	990	HP:0001508	Failure to thrive
OMIM:613800	CDC6	990	HP:0001620	High pitched voice
OMIM:613800	CDC6	990	HP:0002780	Bronchomalacia
OMIM:613800	CDC6	990	HP:0003100	Slender long bone
OMIM:613800	CDC6	990	HP:0008551	Microtia
OMIM:613800	CDC6	990	HP:0002020	Gastroesophageal reflux
OMIM:613800	CDC6	990	HP:0002750	Delayed skeletal maturation
OMIM:613800	CDC6	990	HP:0011968	Feeding difficulties
OMIM:224300	SLC29A3	55315	HP:0001249	Intellectual disability
OMIM:224300	SLC29A3	55315	HP:0002659	Increased susceptibility to fractures
OMIM:224300	SLC29A3	55315	HP:0011220	Prominent forehead
OMIM:224300	SLC29A3	55315	HP:0003301	Irregular vertebral endplates
OMIM:224300	SLC29A3	55315	HP:0000682	Abnormality of dental enamel
OMIM:224300	SLC29A3	55315	HP:0000774	Narrow chest
OMIM:224300	SLC29A3	55315	HP:0000639	Nystagmus
OMIM:224300	SLC29A3	55315	HP:0000007	Autosomal recessive inheritance
OMIM:224300	SLC29A3	55315	HP:0000648	Optic atrophy
OMIM:224300	SLC29A3	55315	HP:0002757	Recurrent fractures
OMIM:224300	SLC29A3	55315	HP:0000365	Hearing impairment
OMIM:224300	SLC29A3	55315	HP:0004334	Dermal atrophy
OMIM:224300	SLC29A3	55315	HP:0000684	Delayed eruption of teeth
OMIM:224300	SLC29A3	55315	HP:0000926	Platyspondyly
OMIM:224300	SLC29A3	55315	HP:0000773	Short ribs
OMIM:224300	SLC29A3	55315	HP:0002376	Developmental regression
OMIM:224300	SLC29A3	55315	HP:0100543	Cognitive impairment
OMIM:224300	SLC29A3	55315	HP:0003498	Disproportionate short stature
OMIM:224300	SLC29A3	55315	HP:0004493	Craniofacial hyperostosis
OMIM:224300	SLC29A3	55315	HP:0000347	Micrognathia
OMIM:224300	SLC29A3	55315	HP:0000618	Blindness
OMIM:224300	SLC29A3	55315	HP:0000938	Osteopenia
OMIM:224300	SLC29A3	55315	HP:0000256	Macrocephaly
OMIM:224300	SLC29A3	55315	HP:0000311	Round face
OMIM:224300	SLC29A3	55315	HP:0000316	Hypertelorism
OMIM:224300	SLC29A3	55315	HP:0001629	Ventricular septal defect
OMIM:224300	SLC29A3	55315	HP:0004054	Sclerosis of hand bone
OMIM:224300	SLC29A3	55315	HP:0001250	Seizures
OMIM:224300	SLC29A3	55315	HP:0000879	Short sternum
OMIM:224300	SLC29A3	55315	HP:0003015	Flared metaphysis
OMIM:224300	SLC29A3	55315	HP:0002007	Frontal bossing
OMIM:224300	SLC29A3	55315	HP:0002514	Cerebral calcification
OMIM:224300	SLC29A3	55315	HP:0000695	Natal tooth
OMIM:224300	SLC29A3	55315	HP:0000218	High palate
OMIM:217700	SLC4A11	83959	HP:0000007	Autosomal recessive inheritance
OMIM:217700	SLC4A11	83959	HP:0007759	Opacification of the corneal stroma
OMIM:612336	PROS1	5627	HP:0000979	Purpura
OMIM:612336	PROS1	5627	HP:0000006	Autosomal dominant inheritance
OMIM:612336	PROS1	5627	HP:0002204	Pulmonary embolism
OMIM:612336	PROS1	5627	HP:0004420	Arterial thrombosis
OMIM:278300	XDH	7498	HP:0000126	Hydronephrosis
OMIM:278300	XDH	7498	HP:0012330	Pyelonephritis
OMIM:278300	XDH	7498	HP:0000007	Autosomal recessive inheritance
OMIM:278300	XDH	7498	HP:0003198	Myopathy
OMIM:614080	PIGN	23556	HP:0000280	Coarse facial features
OMIM:614080	PIGN	23556	HP:0001561	Polyhydramnios
OMIM:614080	PIGN	23556	HP:0000076	Vesicoureteral reflux
OMIM:614080	PIGN	23556	HP:0000233	Thin vermilion border
OMIM:614080	PIGN	23556	HP:0001265	Hyporeflexia
OMIM:614080	PIGN	23556	HP:0002025	Anal stenosis
OMIM:614080	PIGN	23556	HP:0000256	Macrocephaly
OMIM:614080	PIGN	23556	HP:0001266	Choreoathetosis
OMIM:614080	PIGN	23556	HP:0001643	Patent ductus arteriosus
OMIM:614080	PIGN	23556	HP:0000286	Epicanthus
OMIM:614080	PIGN	23556	HP:0000341	Narrow forehead
OMIM:614080	PIGN	23556	HP:0003196	Short nose
OMIM:614080	PIGN	23556	HP:0000396	Overfolded helix
OMIM:614080	PIGN	23556	HP:0000646	Amblyopia
OMIM:614080	PIGN	23556	HP:0001250	Seizures
OMIM:614080	PIGN	23556	HP:0000343	Long philtrum
OMIM:614080	PIGN	23556	HP:0001347	Hyperreflexia
OMIM:614080	PIGN	23556	HP:0001252	Muscular hypotonia
OMIM:614080	PIGN	23556	HP:0001263	Global developmental delay
OMIM:614080	PIGN	23556	HP:0000218	High palate
OMIM:614080	PIGN	23556	HP:0001631	Atria septal defect
OMIM:614080	PIGN	23556	HP:0000639	Nystagmus
OMIM:614080	PIGN	23556	HP:0002020	Gastroesophageal reflux
OMIM:614080	PIGN	23556	HP:0000347	Micrognathia
OMIM:614080	PIGN	23556	HP:0000126	Hydronephrosis
OMIM:614080	PIGN	23556	HP:0000194	Open mouth
OMIM:614080	PIGN	23556	HP:0005280	Depressed nasal bridge
OMIM:614080	PIGN	23556	HP:0003577	Congenital onset
OMIM:614080	PIGN	23556	HP:0000007	Autosomal recessive inheritance
OMIM:614080	PIGN	23556	HP:0001272	Cerebellar atrophy
OMIM:614080	PIGN	23556	HP:0001337	Tremor
OMIM:614080	PIGN	23556	HP:0002023	Anal atresia
OMIM:309350	FLNA	2316	HP:0003272	Abnormality of the hip bone
OMIM:309350	FLNA	2316	HP:0003103	Abnormal cortical bone morphology
OMIM:309350	FLNA	2316	HP:0001539	Omphalocele
OMIM:309350	FLNA	2316	HP:0000772	Abnormality of the ribs
OMIM:309350	FLNA	2316	HP:0000076	Vesicoureteral reflux
OMIM:309350	FLNA	2316	HP:0002827	Hip dislocation
OMIM:309350	FLNA	2316	HP:0002093	Respiratory insufficiency
OMIM:309350	FLNA	2316	HP:0001634	Mitral valve prolapse
OMIM:309350	FLNA	2316	HP:0000347	Micrognathia
OMIM:309350	FLNA	2316	HP:0001763	Pes planus
OMIM:309350	FLNA	2316	HP:0004322	Short stature
OMIM:309350	FLNA	2316	HP:0000365	Hearing impairment
OMIM:309350	FLNA	2316	HP:0002857	Genu valgum
OMIM:309350	FLNA	2316	HP:0000889	Abnormality of the clavicle
OMIM:309350	FLNA	2316	HP:0001423	X-linked dominant inheritance
OMIM:309350	FLNA	2316	HP:0001288	Gait disturbance
OMIM:309350	FLNA	2316	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:309350	FLNA	2316	HP:0000336	Prominent supraorbital ridges
OMIM:309350	FLNA	2316	HP:0001609	Hoarse voice
OMIM:309350	FLNA	2316	HP:0002982	Tibial bowing
OMIM:309350	FLNA	2316	HP:0002650	Scoliosis
OMIM:309350	FLNA	2316	HP:0000684	Delayed eruption of teeth
OMIM:309350	FLNA	2316	HP:0003015	Flared metaphysis
OMIM:309350	FLNA	2316	HP:0003312	Abnormal form of the vertebral bodies
OMIM:309350	FLNA	2316	HP:0001270	Motor delay
OMIM:309350	FLNA	2316	HP:0000767	Pectus excavatum
OMIM:309350	FLNA	2316	HP:0001508	Failure to thrive
OMIM:309350	FLNA	2316	HP:0005792	Short humerus
OMIM:309350	FLNA	2316	HP:0009804	Reduced number of teeth
OMIM:309350	FLNA	2316	HP:0000293	Full cheeks
OMIM:309350	FLNA	2316	HP:0000274	Small face
OMIM:309350	FLNA	2316	HP:0000882	Hypoplastic scapulae
OMIM:309350	FLNA	2316	HP:0000692	Misalignment of teeth
OMIM:309350	FLNA	2316	HP:0000944	Abnormality of the metaphyses
OMIM:309350	FLNA	2316	HP:0000774	Narrow chest
OMIM:309350	FLNA	2316	HP:0001163	Abnormality of the metacarpal bones
OMIM:309350	FLNA	2316	HP:0000400	Macrotia
OMIM:309350	FLNA	2316	HP:0000486	Strabismus
OMIM:309350	FLNA	2316	HP:0001166	Arachnodactyly
OMIM:309350	FLNA	2316	HP:0001382	Joint hypermobility
OMIM:309350	FLNA	2316	HP:0000126	Hydronephrosis
OMIM:309350	FLNA	2316	HP:0001762	Talipes equinovarus
OMIM:309350	FLNA	2316	HP:0004493	Craniofacial hyperostosis
OMIM:309350	FLNA	2316	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:309350	FLNA	2316	HP:0000403	Recurrent otitis media
OMIM:309350	FLNA	2316	HP:0009882	Short distal phalanx of finger
OMIM:309350	FLNA	2316	HP:0003826	Stillbirth
OMIM:309350	FLNA	2316	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:309350	FLNA	2316	HP:0000324	Facial asymmetry
OMIM:309350	FLNA	2316	HP:0001671	Abnormality of the cardiac septa
OMIM:309350	FLNA	2316	HP:0002208	Coarse hair
OMIM:309350	FLNA	2316	HP:0002007	Frontal bossing
OMIM:309350	FLNA	2316	HP:0000175	Cleft palate
OMIM:309350	FLNA	2316	HP:0000270	Delayed cranial suture closure
OMIM:309350	FLNA	2316	HP:0000316	Hypertelorism
OMIM:309350	FLNA	2316	HP:0002751	Kyphoscoliosis
OMIM:309350	FLNA	2316	HP:0002205	Recurrent respiratory infections
OMIM:309350	FLNA	2316	HP:0002652	Skeletal dysplasia
OMIM:309350	FLNA	2316	HP:0010511	Long toe
OMIM:309350	FLNA	2316	HP:0002673	Coxa valga
OMIM:309350	FLNA	2316	HP:0010306	Short thorax
OMIM:309350	FLNA	2316	HP:0000520	Proptosis
OMIM:309350	FLNA	2316	HP:0000894	Short clavicles
OMIM:600060	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:600060	MSRB3	253827	HP:0003577	Congenital onset
OMIM:600060	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:600060	MSRB3	253827	HP:0002321	Vertigo
OMIM:600060	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:600060	BSND	7809	HP:0003577	Congenital onset
OMIM:600060	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:600060	BSND	7809	HP:0002321	Vertigo
OMIM:600060	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:600060	ESPN	83715	HP:0003577	Congenital onset
OMIM:600060	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:600060	ESPN	83715	HP:0002321	Vertigo
OMIM:600060	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:600060	DFNB31	25861	HP:0003577	Congenital onset
OMIM:600060	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:600060	DFNB31	25861	HP:0002321	Vertigo
OMIM:600060	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:600060	OTOA	146183	HP:0003577	Congenital onset
OMIM:600060	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:600060	OTOA	146183	HP:0002321	Vertigo
OMIM:600060	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:600060	GJA1	2697	HP:0003577	Congenital onset
OMIM:600060	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:600060	GJA1	2697	HP:0002321	Vertigo
OMIM:600060	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:600060	MET	4233	HP:0003577	Congenital onset
OMIM:600060	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:600060	MET	4233	HP:0002321	Vertigo
OMIM:600060	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:600060	CLDN14	23562	HP:0003577	Congenital onset
OMIM:600060	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:600060	CLDN14	23562	HP:0002321	Vertigo
OMIM:600060	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:600060	HGF	3082	HP:0003577	Congenital onset
OMIM:600060	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:600060	HGF	3082	HP:0002321	Vertigo
OMIM:600060	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:600060	PNPT1	87178	HP:0003577	Congenital onset
OMIM:600060	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:600060	PNPT1	87178	HP:0002321	Vertigo
OMIM:600060	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:600060	EPS8	2059	HP:0003577	Congenital onset
OMIM:600060	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:600060	EPS8	2059	HP:0002321	Vertigo
OMIM:600060	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:600060	MYO3A	53904	HP:0003577	Congenital onset
OMIM:600060	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:600060	MYO3A	53904	HP:0002321	Vertigo
OMIM:600060	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:600060	DCDC2	51473	HP:0003577	Congenital onset
OMIM:600060	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:600060	DCDC2	51473	HP:0002321	Vertigo
OMIM:600060	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:600060	GJB2	2706	HP:0003577	Congenital onset
OMIM:600060	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:600060	GJB2	2706	HP:0002321	Vertigo
OMIM:600060	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:600060	GJB3	2707	HP:0003577	Congenital onset
OMIM:600060	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:600060	GJB3	2707	HP:0002321	Vertigo
OMIM:600060	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:600060	CABP2	51475	HP:0003577	Congenital onset
OMIM:600060	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:600060	CABP2	51475	HP:0002321	Vertigo
OMIM:600060	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:600060	GRXCR2	643226	HP:0003577	Congenital onset
OMIM:600060	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:600060	GRXCR2	643226	HP:0002321	Vertigo
OMIM:600060	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:600060	SERPINB6	5269	HP:0003577	Congenital onset
OMIM:600060	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:600060	SERPINB6	5269	HP:0002321	Vertigo
OMIM:600060	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:600060	COL11A2	1302	HP:0003577	Congenital onset
OMIM:600060	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:600060	COL11A2	1302	HP:0002321	Vertigo
OMIM:600060	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:600060	CIB2	10518	HP:0003577	Congenital onset
OMIM:600060	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:600060	CIB2	10518	HP:0002321	Vertigo
OMIM:600060	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:600060	FAM65B	9750	HP:0003577	Congenital onset
OMIM:600060	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:600060	FAM65B	9750	HP:0002321	Vertigo
OMIM:600060	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:600060	KARS	3735	HP:0003577	Congenital onset
OMIM:600060	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:600060	KARS	3735	HP:0002321	Vertigo
OMIM:600060	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:600060	LOXHD1	125336	HP:0003577	Congenital onset
OMIM:600060	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:600060	LOXHD1	125336	HP:0002321	Vertigo
OMIM:600060	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:600060	TMC1	117531	HP:0003577	Congenital onset
OMIM:600060	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:600060	TMC1	117531	HP:0002321	Vertigo
OMIM:600060	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:600060	CLIC5	53405	HP:0003577	Congenital onset
OMIM:600060	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:600060	CLIC5	53405	HP:0002321	Vertigo
OMIM:600060	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:600060	OTOF	9381	HP:0003577	Congenital onset
OMIM:600060	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:600060	OTOF	9381	HP:0002321	Vertigo
OMIM:600060	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:600060	MYO6	4646	HP:0003577	Congenital onset
OMIM:600060	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:600060	MYO6	4646	HP:0002321	Vertigo
OMIM:600060	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:600060	MYO7A	4647	HP:0003577	Congenital onset
OMIM:600060	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:600060	MYO7A	4647	HP:0002321	Vertigo
OMIM:600060	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:600060	TMIE	259236	HP:0003577	Congenital onset
OMIM:600060	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:600060	TMIE	259236	HP:0002321	Vertigo
OMIM:600060	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:600060	LRTOMT	220074	HP:0003577	Congenital onset
OMIM:600060	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:600060	LRTOMT	220074	HP:0002321	Vertigo
OMIM:600060	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:600060	OTOGL	283310	HP:0003577	Congenital onset
OMIM:600060	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:600060	OTOGL	283310	HP:0002321	Vertigo
OMIM:600060	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:600060	TPRN	286262	HP:0003577	Congenital onset
OMIM:600060	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:600060	TPRN	286262	HP:0002321	Vertigo
OMIM:600060	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:600060	SLC26A4	5172	HP:0003577	Congenital onset
OMIM:600060	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:600060	SLC26A4	5172	HP:0002321	Vertigo
OMIM:600060	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:600060	GJB6	10804	HP:0003577	Congenital onset
OMIM:600060	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:600060	GJB6	10804	HP:0002321	Vertigo
OMIM:600060	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:600060	DFNB59	494513	HP:0003577	Congenital onset
OMIM:600060	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:600060	DFNB59	494513	HP:0002321	Vertigo
OMIM:600060	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:600060	ESRRB	2103	HP:0003577	Congenital onset
OMIM:600060	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:600060	ESRRB	2103	HP:0002321	Vertigo
OMIM:600060	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:600060	TMPRSS3	64699	HP:0003577	Congenital onset
OMIM:600060	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:600060	TMPRSS3	64699	HP:0002321	Vertigo
OMIM:600060	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:600060	PTPRQ	374462	HP:0003577	Congenital onset
OMIM:600060	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:600060	PTPRQ	374462	HP:0002321	Vertigo
OMIM:600060	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:600060	SLC26A5	375611	HP:0003577	Congenital onset
OMIM:600060	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:600060	SLC26A5	375611	HP:0002321	Vertigo
OMIM:600060	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:600060	PCDH15	65217	HP:0003577	Congenital onset
OMIM:600060	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:600060	PCDH15	65217	HP:0002321	Vertigo
OMIM:600060	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:600060	TSPEAR	54084	HP:0003577	Congenital onset
OMIM:600060	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:600060	TSPEAR	54084	HP:0002321	Vertigo
OMIM:600060	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:600060	LHFPL5	222662	HP:0003577	Congenital onset
OMIM:600060	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:600060	LHFPL5	222662	HP:0002321	Vertigo
OMIM:600060	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:600060	TRIOBP	11078	HP:0003577	Congenital onset
OMIM:600060	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:600060	TRIOBP	11078	HP:0002321	Vertigo
OMIM:600060	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:600060	CDH23	64072	HP:0003577	Congenital onset
OMIM:600060	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:600060	CDH23	64072	HP:0002321	Vertigo
OMIM:600060	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:600060	RDX	5962	HP:0003577	Congenital onset
OMIM:600060	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:600060	RDX	5962	HP:0002321	Vertigo
OMIM:600060	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:600060	GPSM2	29899	HP:0003577	Congenital onset
OMIM:600060	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:600060	GPSM2	29899	HP:0002321	Vertigo
OMIM:600060	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:600060	ELMOD3	84173	HP:0003577	Congenital onset
OMIM:600060	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:600060	ELMOD3	84173	HP:0002321	Vertigo
OMIM:600060	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:600060	ILDR1	286676	HP:0003577	Congenital onset
OMIM:600060	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:600060	ILDR1	286676	HP:0002321	Vertigo
OMIM:600060	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:600060	GRXCR1	389207	HP:0003577	Congenital onset
OMIM:600060	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:600060	GRXCR1	389207	HP:0002321	Vertigo
OMIM:600060	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:600060	MARVELD2	153562	HP:0003577	Congenital onset
OMIM:600060	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:600060	MARVELD2	153562	HP:0002321	Vertigo
OMIM:600060	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:600060	STRC	161497	HP:0003577	Congenital onset
OMIM:600060	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:600060	STRC	161497	HP:0002321	Vertigo
OMIM:600060	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:600060	SLITRK6	84189	HP:0003577	Congenital onset
OMIM:600060	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:600060	SLITRK6	84189	HP:0002321	Vertigo
OMIM:600060	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:600060	TECTA	7007	HP:0003577	Congenital onset
OMIM:600060	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:600060	TECTA	7007	HP:0002321	Vertigo
OMIM:600060	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:600060	MYO15A	51168	HP:0003577	Congenital onset
OMIM:600060	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:600060	MYO15A	51168	HP:0002321	Vertigo
OMIM:600060	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:600060	USH1C	10083	HP:0003577	Congenital onset
OMIM:600060	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:600060	USH1C	10083	HP:0002321	Vertigo
OMIM:600060	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:600060	ADCY1	107	HP:0003577	Congenital onset
OMIM:600060	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:600060	ADCY1	107	HP:0002321	Vertigo
OMIM:600060	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:600060	SYNE4	163183	HP:0003577	Congenital onset
OMIM:600060	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:600060	SYNE4	163183	HP:0002321	Vertigo
OMIM:600060	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:600060	GIPC3	126326	HP:0003577	Congenital onset
OMIM:600060	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:600060	GIPC3	126326	HP:0002321	Vertigo
OMIM:600060	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:600060	TBC1D24	57465	HP:0003577	Congenital onset
OMIM:600060	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:600060	TBC1D24	57465	HP:0002321	Vertigo
OMIM:600060	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:600060	OTOG	340990	HP:0003577	Congenital onset
OMIM:600060	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:600060	OTOG	340990	HP:0002321	Vertigo
OMIM:142340	GATA6	2627	HP:0001426	Multifactorial inheritance
OMIM:142340	GATA6	2627	HP:0000776	Congenital diaphragmatic hernia
OMIM:142340	ZFPM2	23414	HP:0001426	Multifactorial inheritance
OMIM:142340	ZFPM2	23414	HP:0000776	Congenital diaphragmatic hernia
OMIM:613721	KCNB1	3745	HP:0002133	Status epilepticus
OMIM:613721	KCNB1	3745	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	KCNB1	3745	HP:0002510	Spastic tetraplegia
OMIM:613721	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:613721	KCNB1	3745	HP:0001263	Global developmental delay
OMIM:613721	KCNB1	3745	HP:0003828	Variable expressivity
OMIM:613721	KCNB1	3745	HP:0003593	Infantile onset
OMIM:613721	KCNB1	3745	HP:0000006	Autosomal dominant inheritance
OMIM:613721	PIGQ	9091	HP:0002133	Status epilepticus
OMIM:613721	PIGQ	9091	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	PIGQ	9091	HP:0002510	Spastic tetraplegia
OMIM:613721	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:613721	PIGQ	9091	HP:0001263	Global developmental delay
OMIM:613721	PIGQ	9091	HP:0003828	Variable expressivity
OMIM:613721	PIGQ	9091	HP:0003593	Infantile onset
OMIM:613721	PIGQ	9091	HP:0000006	Autosomal dominant inheritance
OMIM:613721	SLC25A22	79751	HP:0002133	Status epilepticus
OMIM:613721	SLC25A22	79751	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	SLC25A22	79751	HP:0002510	Spastic tetraplegia
OMIM:613721	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:613721	SLC25A22	79751	HP:0001263	Global developmental delay
OMIM:613721	SLC25A22	79751	HP:0003828	Variable expressivity
OMIM:613721	SLC25A22	79751	HP:0003593	Infantile onset
OMIM:613721	SLC25A22	79751	HP:0000006	Autosomal dominant inheritance
OMIM:613721	CDKL5	6792	HP:0002133	Status epilepticus
OMIM:613721	CDKL5	6792	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	CDKL5	6792	HP:0002510	Spastic tetraplegia
OMIM:613721	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:613721	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:613721	CDKL5	6792	HP:0003828	Variable expressivity
OMIM:613721	CDKL5	6792	HP:0003593	Infantile onset
OMIM:613721	CDKL5	6792	HP:0000006	Autosomal dominant inheritance
OMIM:613721	KCNQ2	3785	HP:0002133	Status epilepticus
OMIM:613721	KCNQ2	3785	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	KCNQ2	3785	HP:0002510	Spastic tetraplegia
OMIM:613721	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:613721	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:613721	KCNQ2	3785	HP:0003828	Variable expressivity
OMIM:613721	KCNQ2	3785	HP:0003593	Infantile onset
OMIM:613721	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:613721	SLC13A5	284111	HP:0002133	Status epilepticus
OMIM:613721	SLC13A5	284111	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	SLC13A5	284111	HP:0002510	Spastic tetraplegia
OMIM:613721	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:613721	SLC13A5	284111	HP:0001263	Global developmental delay
OMIM:613721	SLC13A5	284111	HP:0003828	Variable expressivity
OMIM:613721	SLC13A5	284111	HP:0003593	Infantile onset
OMIM:613721	SLC13A5	284111	HP:0000006	Autosomal dominant inheritance
OMIM:613721	SIK1	150094	HP:0002133	Status epilepticus
OMIM:613721	SIK1	150094	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	SIK1	150094	HP:0002510	Spastic tetraplegia
OMIM:613721	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:613721	SIK1	150094	HP:0001263	Global developmental delay
OMIM:613721	SIK1	150094	HP:0003828	Variable expressivity
OMIM:613721	SIK1	150094	HP:0003593	Infantile onset
OMIM:613721	SIK1	150094	HP:0000006	Autosomal dominant inheritance
OMIM:613721	HCN1	348980	HP:0002133	Status epilepticus
OMIM:613721	HCN1	348980	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	HCN1	348980	HP:0002510	Spastic tetraplegia
OMIM:613721	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:613721	HCN1	348980	HP:0001263	Global developmental delay
OMIM:613721	HCN1	348980	HP:0003828	Variable expressivity
OMIM:613721	HCN1	348980	HP:0003593	Infantile onset
OMIM:613721	HCN1	348980	HP:0000006	Autosomal dominant inheritance
OMIM:613721	PNKP	11284	HP:0002133	Status epilepticus
OMIM:613721	PNKP	11284	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	PNKP	11284	HP:0002510	Spastic tetraplegia
OMIM:613721	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:613721	PNKP	11284	HP:0001263	Global developmental delay
OMIM:613721	PNKP	11284	HP:0003828	Variable expressivity
OMIM:613721	PNKP	11284	HP:0003593	Infantile onset
OMIM:613721	PNKP	11284	HP:0000006	Autosomal dominant inheritance
OMIM:613721	SCN2A	6326	HP:0002133	Status epilepticus
OMIM:613721	SCN2A	6326	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	SCN2A	6326	HP:0002510	Spastic tetraplegia
OMIM:613721	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:613721	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:613721	SCN2A	6326	HP:0003828	Variable expressivity
OMIM:613721	SCN2A	6326	HP:0003593	Infantile onset
OMIM:613721	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:613721	GNAO1	2775	HP:0002133	Status epilepticus
OMIM:613721	GNAO1	2775	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	GNAO1	2775	HP:0002510	Spastic tetraplegia
OMIM:613721	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:613721	GNAO1	2775	HP:0001263	Global developmental delay
OMIM:613721	GNAO1	2775	HP:0003828	Variable expressivity
OMIM:613721	GNAO1	2775	HP:0003593	Infantile onset
OMIM:613721	GNAO1	2775	HP:0000006	Autosomal dominant inheritance
OMIM:613721	NECAP1	25977	HP:0002133	Status epilepticus
OMIM:613721	NECAP1	25977	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	NECAP1	25977	HP:0002510	Spastic tetraplegia
OMIM:613721	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:613721	NECAP1	25977	HP:0001263	Global developmental delay
OMIM:613721	NECAP1	25977	HP:0003828	Variable expressivity
OMIM:613721	NECAP1	25977	HP:0003593	Infantile onset
OMIM:613721	NECAP1	25977	HP:0000006	Autosomal dominant inheritance
OMIM:613721	ARX	170302	HP:0002133	Status epilepticus
OMIM:613721	ARX	170302	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	ARX	170302	HP:0002510	Spastic tetraplegia
OMIM:613721	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:613721	ARX	170302	HP:0001263	Global developmental delay
OMIM:613721	ARX	170302	HP:0003828	Variable expressivity
OMIM:613721	ARX	170302	HP:0003593	Infantile onset
OMIM:613721	ARX	170302	HP:0000006	Autosomal dominant inheritance
OMIM:613721	STXBP1	6812	HP:0002133	Status epilepticus
OMIM:613721	STXBP1	6812	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	STXBP1	6812	HP:0002510	Spastic tetraplegia
OMIM:613721	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:613721	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:613721	STXBP1	6812	HP:0003828	Variable expressivity
OMIM:613721	STXBP1	6812	HP:0003593	Infantile onset
OMIM:613721	STXBP1	6812	HP:0000006	Autosomal dominant inheritance
OMIM:613721	WWOX	51741	HP:0002133	Status epilepticus
OMIM:613721	WWOX	51741	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	WWOX	51741	HP:0002510	Spastic tetraplegia
OMIM:613721	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:613721	WWOX	51741	HP:0001263	Global developmental delay
OMIM:613721	WWOX	51741	HP:0003828	Variable expressivity
OMIM:613721	WWOX	51741	HP:0003593	Infantile onset
OMIM:613721	WWOX	51741	HP:0000006	Autosomal dominant inheritance
OMIM:613721	CASK	8573	HP:0002133	Status epilepticus
OMIM:613721	CASK	8573	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	CASK	8573	HP:0002510	Spastic tetraplegia
OMIM:613721	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:613721	CASK	8573	HP:0001263	Global developmental delay
OMIM:613721	CASK	8573	HP:0003828	Variable expressivity
OMIM:613721	CASK	8573	HP:0003593	Infantile onset
OMIM:613721	CASK	8573	HP:0000006	Autosomal dominant inheritance
OMIM:613721	SCN8A	6334	HP:0002133	Status epilepticus
OMIM:613721	SCN8A	6334	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	SCN8A	6334	HP:0002510	Spastic tetraplegia
OMIM:613721	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:613721	SCN8A	6334	HP:0001263	Global developmental delay
OMIM:613721	SCN8A	6334	HP:0003828	Variable expressivity
OMIM:613721	SCN8A	6334	HP:0003593	Infantile onset
OMIM:613721	SCN8A	6334	HP:0000006	Autosomal dominant inheritance
OMIM:613721	DNM1	1759	HP:0002133	Status epilepticus
OMIM:613721	DNM1	1759	HP:0002069	Generalized tonic-clonic seizures
OMIM:613721	DNM1	1759	HP:0002510	Spastic tetraplegia
OMIM:613721	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:613721	DNM1	1759	HP:0001263	Global developmental delay
OMIM:613721	DNM1	1759	HP:0003828	Variable expressivity
OMIM:613721	DNM1	1759	HP:0003593	Infantile onset
OMIM:613721	DNM1	1759	HP:0000006	Autosomal dominant inheritance
OMIM:614377	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
OMIM:614377	WDR19	57728	HP:0000089	Renal hypoplasia
OMIM:614377	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:614377	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:118450	JAG1	182	HP:0001636	Tetralogy of Fallot
OMIM:118450	JAG1	182	HP:0003829	Incomplete penetrance
OMIM:118450	JAG1	182	HP:0000110	Renal dysplasia
OMIM:118450	JAG1	182	HP:0000627	Posterior embryotoxon
OMIM:118450	JAG1	182	HP:0002937	Hemivertebrae
OMIM:118450	JAG1	182	HP:0000006	Autosomal dominant inheritance
OMIM:118450	JAG1	182	HP:0001297	Stroke
OMIM:118450	JAG1	182	HP:0000490	Deeply set eye
OMIM:118450	JAG1	182	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:118450	JAG1	182	HP:0000337	Broad forehead
OMIM:118450	JAG1	182	HP:0000582	Upslanted palpebral fissure
OMIM:118450	JAG1	182	HP:0000076	Vesicoureteral reflux
OMIM:118450	JAG1	182	HP:0002155	Hypertriglyceridemia
OMIM:118450	JAG1	182	HP:0003593	Infantile onset
OMIM:118450	JAG1	182	HP:0000316	Hypertelorism
OMIM:118450	JAG1	182	HP:0000089	Renal hypoplasia
OMIM:118450	JAG1	182	HP:0002895	Papillary thyroid carcinoma
OMIM:118450	JAG1	182	HP:0000772	Abnormality of the ribs
OMIM:118450	JAG1	182	HP:0001508	Failure to thrive
OMIM:118450	JAG1	182	HP:0000518	Cataract
OMIM:118450	JAG1	182	HP:0002910	Elevated hepatic transaminases
OMIM:118450	JAG1	182	HP:0003124	Hypercholesterolemia
OMIM:118450	JAG1	182	HP:0001328	Specific learning disability
OMIM:118450	JAG1	182	HP:0001680	Coarctation of aorta
OMIM:118450	JAG1	182	HP:0003189	Long nose
OMIM:118450	JAG1	182	HP:0001284	Areflexia
OMIM:118450	JAG1	182	HP:0000482	Microcornea
OMIM:118450	JAG1	182	HP:0000486	Strabismus
OMIM:118450	JAG1	182	HP:0001629	Ventricular septal defect
OMIM:118450	JAG1	182	HP:0009882	Short distal phalanx of finger
OMIM:118450	JAG1	182	HP:0006579	Prolonged neonatal jaundice
OMIM:118450	JAG1	182	HP:0000325	Triangular face
OMIM:118450	JAG1	182	HP:0001631	Atria septal defect
OMIM:118450	JAG1	182	HP:0000400	Macrotia
OMIM:118450	JAG1	182	HP:0005280	Depressed nasal bridge
OMIM:118450	JAG1	182	HP:0000545	Myopia
OMIM:118450	JAG1	182	HP:0001256	Intellectual disability, mild
OMIM:118450	JAG1	182	HP:0003022	Hypoplasia of the ulna
OMIM:118450	JAG1	182	HP:0000533	Chorioretinal atrophy
OMIM:118450	JAG1	182	HP:0001394	Cirrhosis
OMIM:204650	AMBN	258	HP:0000007	Autosomal recessive inheritance
OMIM:204650	AMBN	258	HP:0001425	Heterogeneous
OMIM:204650	ENAM	10117	HP:0000007	Autosomal recessive inheritance
OMIM:204650	ENAM	10117	HP:0001425	Heterogeneous
OMIM:204650	LAMB3	3914	HP:0000007	Autosomal recessive inheritance
OMIM:204650	LAMB3	3914	HP:0001425	Heterogeneous
OMIM:204650	ITGB6	3694	HP:0000007	Autosomal recessive inheritance
OMIM:204650	ITGB6	3694	HP:0001425	Heterogeneous
OMIM:613795	SMAD3	4088	HP:0012385	Camptodactyly
OMIM:613795	SMAD3	4088	HP:0001065	Striae distensae
OMIM:613795	SMAD3	4088	HP:0001388	Joint laxity
OMIM:613795	SMAD3	4088	HP:0005110	Atrial fibrillation
OMIM:613795	SMAD3	4088	HP:0001537	Umbilical hernia
OMIM:613795	SMAD3	4088	HP:0000939	Osteoporosis
OMIM:613795	SMAD3	4088	HP:0000316	Hypertelorism
OMIM:613795	SMAD3	4088	HP:0005116	Arterial tortuosity
OMIM:613795	SMAD3	4088	HP:0001642	Pulmonic stenosis
OMIM:613795	SMAD3	4088	HP:0004942	Aortic aneurysm
OMIM:613795	SMAD3	4088	HP:0000689	Dental malocclusion
OMIM:613795	SMAD3	4088	HP:0000023	Inguinal hernia
OMIM:613795	SMAD3	4088	HP:0001634	Mitral valve prolapse
OMIM:613795	SMAD3	4088	HP:0001643	Patent ductus arteriosus
OMIM:613795	SMAD3	4088	HP:0000766	Abnormality of the sternum
OMIM:613795	SMAD3	4088	HP:0001712	Left ventricular hypertrophy
OMIM:613795	SMAD3	4088	HP:0001166	Arachnodactyly
OMIM:613795	SMAD3	4088	HP:0000978	Bruising susceptibility
OMIM:613795	SMAD3	4088	HP:0000006	Autosomal dominant inheritance
OMIM:613795	SMAD3	4088	HP:0001659	Aortic regurgitation
OMIM:613795	SMAD3	4088	HP:0000175	Cleft palate
OMIM:613795	SMAD3	4088	HP:0001653	Mitral regurgitation
OMIM:613795	SMAD3	4088	HP:0001763	Pes planus
OMIM:613795	SMAD3	4088	HP:0000218	High palate
OMIM:613795	SMAD3	4088	HP:0002650	Scoliosis
OMIM:610333	SAMHD1	25939	HP:0000007	Autosomal recessive inheritance
OMIM:610333	SAMHD1	25939	HP:0001744	Splenomegaly
OMIM:610333	SAMHD1	25939	HP:0011968	Feeding difficulties
OMIM:610333	SAMHD1	25939	HP:0002119	Ventriculomegaly
OMIM:610333	SAMHD1	25939	HP:0000253	Progressive microcephaly
OMIM:610333	SAMHD1	25939	HP:0002415	Leukodystrophy
OMIM:610333	SAMHD1	25939	HP:0002059	Cerebral atrophy
OMIM:610333	SAMHD1	25939	HP:0003819	Death in childhood
OMIM:610333	SAMHD1	25939	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610333	SAMHD1	25939	HP:0000444	Convex nasal ridge
OMIM:610333	SAMHD1	25939	HP:0003593	Infantile onset
OMIM:610333	SAMHD1	25939	HP:0001876	Pancytopenia
OMIM:610333	SAMHD1	25939	HP:0001272	Cerebellar atrophy
OMIM:610333	SAMHD1	25939	HP:0011344	Severe global developmental delay
OMIM:610333	SAMHD1	25939	HP:0000369	Low-set ears
OMIM:610333	SAMHD1	25939	HP:0001332	Dystonia
OMIM:610333	SAMHD1	25939	HP:0000238	Hydrocephalus
OMIM:610333	SAMHD1	25939	HP:0001433	Hepatosplenomegaly
OMIM:610333	SAMHD1	25939	HP:0001511	Intrauterine growth retardation
OMIM:610333	SAMHD1	25939	HP:0001873	Thrombocytopenia
OMIM:610333	SAMHD1	25939	HP:0002514	Cerebral calcification
OMIM:610333	SAMHD1	25939	HP:0001257	Spasticity
OMIM:610333	SAMHD1	25939	HP:0002910	Elevated hepatic transaminases
OMIM:610333	SAMHD1	25939	HP:0002240	Hepatomegaly
OMIM:610333	RNASEH2B	79621	HP:0000007	Autosomal recessive inheritance
OMIM:610333	RNASEH2B	79621	HP:0001744	Splenomegaly
OMIM:610333	RNASEH2B	79621	HP:0011968	Feeding difficulties
OMIM:610333	RNASEH2B	79621	HP:0002119	Ventriculomegaly
OMIM:610333	RNASEH2B	79621	HP:0000253	Progressive microcephaly
OMIM:610333	RNASEH2B	79621	HP:0002415	Leukodystrophy
OMIM:610333	RNASEH2B	79621	HP:0002059	Cerebral atrophy
OMIM:610333	RNASEH2B	79621	HP:0003819	Death in childhood
OMIM:610333	RNASEH2B	79621	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610333	RNASEH2B	79621	HP:0000444	Convex nasal ridge
OMIM:610333	RNASEH2B	79621	HP:0003593	Infantile onset
OMIM:610333	RNASEH2B	79621	HP:0001876	Pancytopenia
OMIM:610333	RNASEH2B	79621	HP:0001272	Cerebellar atrophy
OMIM:610333	RNASEH2B	79621	HP:0011344	Severe global developmental delay
OMIM:610333	RNASEH2B	79621	HP:0000369	Low-set ears
OMIM:610333	RNASEH2B	79621	HP:0001332	Dystonia
OMIM:610333	RNASEH2B	79621	HP:0000238	Hydrocephalus
OMIM:610333	RNASEH2B	79621	HP:0001433	Hepatosplenomegaly
OMIM:610333	RNASEH2B	79621	HP:0001511	Intrauterine growth retardation
OMIM:610333	RNASEH2B	79621	HP:0001873	Thrombocytopenia
OMIM:610333	RNASEH2B	79621	HP:0002514	Cerebral calcification
OMIM:610333	RNASEH2B	79621	HP:0001257	Spasticity
OMIM:610333	RNASEH2B	79621	HP:0002910	Elevated hepatic transaminases
OMIM:610333	RNASEH2B	79621	HP:0002240	Hepatomegaly
OMIM:610333	RNASEH2A	10535	HP:0000007	Autosomal recessive inheritance
OMIM:610333	RNASEH2A	10535	HP:0001744	Splenomegaly
OMIM:610333	RNASEH2A	10535	HP:0011968	Feeding difficulties
OMIM:610333	RNASEH2A	10535	HP:0002119	Ventriculomegaly
OMIM:610333	RNASEH2A	10535	HP:0000253	Progressive microcephaly
OMIM:610333	RNASEH2A	10535	HP:0002415	Leukodystrophy
OMIM:610333	RNASEH2A	10535	HP:0002059	Cerebral atrophy
OMIM:610333	RNASEH2A	10535	HP:0003819	Death in childhood
OMIM:610333	RNASEH2A	10535	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610333	RNASEH2A	10535	HP:0000444	Convex nasal ridge
OMIM:610333	RNASEH2A	10535	HP:0003593	Infantile onset
OMIM:610333	RNASEH2A	10535	HP:0001876	Pancytopenia
OMIM:610333	RNASEH2A	10535	HP:0001272	Cerebellar atrophy
OMIM:610333	RNASEH2A	10535	HP:0011344	Severe global developmental delay
OMIM:610333	RNASEH2A	10535	HP:0000369	Low-set ears
OMIM:610333	RNASEH2A	10535	HP:0001332	Dystonia
OMIM:610333	RNASEH2A	10535	HP:0000238	Hydrocephalus
OMIM:610333	RNASEH2A	10535	HP:0001433	Hepatosplenomegaly
OMIM:610333	RNASEH2A	10535	HP:0001511	Intrauterine growth retardation
OMIM:610333	RNASEH2A	10535	HP:0001873	Thrombocytopenia
OMIM:610333	RNASEH2A	10535	HP:0002514	Cerebral calcification
OMIM:610333	RNASEH2A	10535	HP:0001257	Spasticity
OMIM:610333	RNASEH2A	10535	HP:0002910	Elevated hepatic transaminases
OMIM:610333	RNASEH2A	10535	HP:0002240	Hepatomegaly
OMIM:610333	ADAR	103	HP:0000007	Autosomal recessive inheritance
OMIM:610333	ADAR	103	HP:0001744	Splenomegaly
OMIM:610333	ADAR	103	HP:0011968	Feeding difficulties
OMIM:610333	ADAR	103	HP:0002119	Ventriculomegaly
OMIM:610333	ADAR	103	HP:0000253	Progressive microcephaly
OMIM:610333	ADAR	103	HP:0002415	Leukodystrophy
OMIM:610333	ADAR	103	HP:0002059	Cerebral atrophy
OMIM:610333	ADAR	103	HP:0003819	Death in childhood
OMIM:610333	ADAR	103	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610333	ADAR	103	HP:0000444	Convex nasal ridge
OMIM:610333	ADAR	103	HP:0003593	Infantile onset
OMIM:610333	ADAR	103	HP:0001876	Pancytopenia
OMIM:610333	ADAR	103	HP:0001272	Cerebellar atrophy
OMIM:610333	ADAR	103	HP:0011344	Severe global developmental delay
OMIM:610333	ADAR	103	HP:0000369	Low-set ears
OMIM:610333	ADAR	103	HP:0001332	Dystonia
OMIM:610333	ADAR	103	HP:0000238	Hydrocephalus
OMIM:610333	ADAR	103	HP:0001433	Hepatosplenomegaly
OMIM:610333	ADAR	103	HP:0001511	Intrauterine growth retardation
OMIM:610333	ADAR	103	HP:0001873	Thrombocytopenia
OMIM:610333	ADAR	103	HP:0002514	Cerebral calcification
OMIM:610333	ADAR	103	HP:0001257	Spasticity
OMIM:610333	ADAR	103	HP:0002910	Elevated hepatic transaminases
OMIM:610333	ADAR	103	HP:0002240	Hepatomegaly
OMIM:610333	IFIH1	64135	HP:0000007	Autosomal recessive inheritance
OMIM:610333	IFIH1	64135	HP:0001744	Splenomegaly
OMIM:610333	IFIH1	64135	HP:0011968	Feeding difficulties
OMIM:610333	IFIH1	64135	HP:0002119	Ventriculomegaly
OMIM:610333	IFIH1	64135	HP:0000253	Progressive microcephaly
OMIM:610333	IFIH1	64135	HP:0002415	Leukodystrophy
OMIM:610333	IFIH1	64135	HP:0002059	Cerebral atrophy
OMIM:610333	IFIH1	64135	HP:0003819	Death in childhood
OMIM:610333	IFIH1	64135	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610333	IFIH1	64135	HP:0000444	Convex nasal ridge
OMIM:610333	IFIH1	64135	HP:0003593	Infantile onset
OMIM:610333	IFIH1	64135	HP:0001876	Pancytopenia
OMIM:610333	IFIH1	64135	HP:0001272	Cerebellar atrophy
OMIM:610333	IFIH1	64135	HP:0011344	Severe global developmental delay
OMIM:610333	IFIH1	64135	HP:0000369	Low-set ears
OMIM:610333	IFIH1	64135	HP:0001332	Dystonia
OMIM:610333	IFIH1	64135	HP:0000238	Hydrocephalus
OMIM:610333	IFIH1	64135	HP:0001433	Hepatosplenomegaly
OMIM:610333	IFIH1	64135	HP:0001511	Intrauterine growth retardation
OMIM:610333	IFIH1	64135	HP:0001873	Thrombocytopenia
OMIM:610333	IFIH1	64135	HP:0002514	Cerebral calcification
OMIM:610333	IFIH1	64135	HP:0001257	Spasticity
OMIM:610333	IFIH1	64135	HP:0002910	Elevated hepatic transaminases
OMIM:610333	IFIH1	64135	HP:0002240	Hepatomegaly
OMIM:610333	RNASEH2C	84153	HP:0000007	Autosomal recessive inheritance
OMIM:610333	RNASEH2C	84153	HP:0001744	Splenomegaly
OMIM:610333	RNASEH2C	84153	HP:0011968	Feeding difficulties
OMIM:610333	RNASEH2C	84153	HP:0002119	Ventriculomegaly
OMIM:610333	RNASEH2C	84153	HP:0000253	Progressive microcephaly
OMIM:610333	RNASEH2C	84153	HP:0002415	Leukodystrophy
OMIM:610333	RNASEH2C	84153	HP:0002059	Cerebral atrophy
OMIM:610333	RNASEH2C	84153	HP:0003819	Death in childhood
OMIM:610333	RNASEH2C	84153	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610333	RNASEH2C	84153	HP:0000444	Convex nasal ridge
OMIM:610333	RNASEH2C	84153	HP:0003593	Infantile onset
OMIM:610333	RNASEH2C	84153	HP:0001876	Pancytopenia
OMIM:610333	RNASEH2C	84153	HP:0001272	Cerebellar atrophy
OMIM:610333	RNASEH2C	84153	HP:0011344	Severe global developmental delay
OMIM:610333	RNASEH2C	84153	HP:0000369	Low-set ears
OMIM:610333	RNASEH2C	84153	HP:0001332	Dystonia
OMIM:610333	RNASEH2C	84153	HP:0000238	Hydrocephalus
OMIM:610333	RNASEH2C	84153	HP:0001433	Hepatosplenomegaly
OMIM:610333	RNASEH2C	84153	HP:0001511	Intrauterine growth retardation
OMIM:610333	RNASEH2C	84153	HP:0001873	Thrombocytopenia
OMIM:610333	RNASEH2C	84153	HP:0002514	Cerebral calcification
OMIM:610333	RNASEH2C	84153	HP:0001257	Spasticity
OMIM:610333	RNASEH2C	84153	HP:0002910	Elevated hepatic transaminases
OMIM:610333	RNASEH2C	84153	HP:0002240	Hepatomegaly
OMIM:610333	TREX1	11277	HP:0000007	Autosomal recessive inheritance
OMIM:610333	TREX1	11277	HP:0001744	Splenomegaly
OMIM:610333	TREX1	11277	HP:0011968	Feeding difficulties
OMIM:610333	TREX1	11277	HP:0002119	Ventriculomegaly
OMIM:610333	TREX1	11277	HP:0000253	Progressive microcephaly
OMIM:610333	TREX1	11277	HP:0002415	Leukodystrophy
OMIM:610333	TREX1	11277	HP:0002059	Cerebral atrophy
OMIM:610333	TREX1	11277	HP:0003819	Death in childhood
OMIM:610333	TREX1	11277	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610333	TREX1	11277	HP:0000444	Convex nasal ridge
OMIM:610333	TREX1	11277	HP:0003593	Infantile onset
OMIM:610333	TREX1	11277	HP:0001876	Pancytopenia
OMIM:610333	TREX1	11277	HP:0001272	Cerebellar atrophy
OMIM:610333	TREX1	11277	HP:0011344	Severe global developmental delay
OMIM:610333	TREX1	11277	HP:0000369	Low-set ears
OMIM:610333	TREX1	11277	HP:0001332	Dystonia
OMIM:610333	TREX1	11277	HP:0000238	Hydrocephalus
OMIM:610333	TREX1	11277	HP:0001433	Hepatosplenomegaly
OMIM:610333	TREX1	11277	HP:0001511	Intrauterine growth retardation
OMIM:610333	TREX1	11277	HP:0001873	Thrombocytopenia
OMIM:610333	TREX1	11277	HP:0002514	Cerebral calcification
OMIM:610333	TREX1	11277	HP:0001257	Spasticity
OMIM:610333	TREX1	11277	HP:0002910	Elevated hepatic transaminases
OMIM:610333	TREX1	11277	HP:0002240	Hepatomegaly
OMIM:235555	AKR1D1	6718	HP:0002014	Diarrhea
OMIM:235555	AKR1D1	6718	HP:0002240	Hepatomegaly
OMIM:235555	AKR1D1	6718	HP:0003256	Abnormality of the coagulation cascade
OMIM:235555	AKR1D1	6718	HP:0000952	Jaundice
OMIM:235555	AKR1D1	6718	HP:0001399	Hepatic failure
OMIM:235555	AKR1D1	6718	HP:0001744	Splenomegaly
OMIM:235555	AKR1D1	6718	HP:0002904	Hyperbilirubinemia
OMIM:235555	AKR1D1	6718	HP:0000007	Autosomal recessive inheritance
OMIM:235555	AKR1D1	6718	HP:0002024	Malabsorption
OMIM:235555	AKR1D1	6718	HP:0002910	Elevated hepatic transaminases
OMIM:235555	AKR1D1	6718	HP:0004349	Reduced bone mineral density
OMIM:235555	AKR1D1	6718	HP:0001508	Failure to thrive
OMIM:235555	AKR1D1	6718	HP:0001394	Cirrhosis
OMIM:235555	AKR1D1	6718	HP:0002570	Steatorrhea
OMIM:235555	AKR1D1	6718	HP:0001406	Intrahepatic cholestasis
OMIM:235555	AKR1D1	6718	HP:0003623	Neonatal onset
OMIM:615314	FGFR3	2261	HP:0000717	Autism
OMIM:615314	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:615314	FGFR3	2261	HP:0001822	Hallux valgus
OMIM:615314	FGFR3	2261	HP:0000294	Low anterior hairline
OMIM:615314	FGFR3	2261	HP:0000486	Strabismus
OMIM:615314	FGFR3	2261	HP:0000508	Ptosis
OMIM:615314	FGFR3	2261	HP:0001156	Brachydactyly syndrome
OMIM:615314	FGFR3	2261	HP:0001263	Global developmental delay
OMIM:615314	FGFR3	2261	HP:0000954	Single transverse palmar crease
OMIM:615314	FGFR3	2261	HP:0001363	Craniosynostosis
OMIM:615314	ZIC1	7545	HP:0000717	Autism
OMIM:615314	ZIC1	7545	HP:0000006	Autosomal dominant inheritance
OMIM:615314	ZIC1	7545	HP:0001822	Hallux valgus
OMIM:615314	ZIC1	7545	HP:0000294	Low anterior hairline
OMIM:615314	ZIC1	7545	HP:0000486	Strabismus
OMIM:615314	ZIC1	7545	HP:0000508	Ptosis
OMIM:615314	ZIC1	7545	HP:0001156	Brachydactyly syndrome
OMIM:615314	ZIC1	7545	HP:0001263	Global developmental delay
OMIM:615314	ZIC1	7545	HP:0000954	Single transverse palmar crease
OMIM:615314	ZIC1	7545	HP:0001363	Craniosynostosis
OMIM:615314	TCF12	6938	HP:0000717	Autism
OMIM:615314	TCF12	6938	HP:0000006	Autosomal dominant inheritance
OMIM:615314	TCF12	6938	HP:0001822	Hallux valgus
OMIM:615314	TCF12	6938	HP:0000294	Low anterior hairline
OMIM:615314	TCF12	6938	HP:0000486	Strabismus
OMIM:615314	TCF12	6938	HP:0000508	Ptosis
OMIM:615314	TCF12	6938	HP:0001156	Brachydactyly syndrome
OMIM:615314	TCF12	6938	HP:0001263	Global developmental delay
OMIM:615314	TCF12	6938	HP:0000954	Single transverse palmar crease
OMIM:615314	TCF12	6938	HP:0001363	Craniosynostosis
OMIM:615314	TWIST1	7291	HP:0000717	Autism
OMIM:615314	TWIST1	7291	HP:0000006	Autosomal dominant inheritance
OMIM:615314	TWIST1	7291	HP:0001822	Hallux valgus
OMIM:615314	TWIST1	7291	HP:0000294	Low anterior hairline
OMIM:615314	TWIST1	7291	HP:0000486	Strabismus
OMIM:615314	TWIST1	7291	HP:0000508	Ptosis
OMIM:615314	TWIST1	7291	HP:0001156	Brachydactyly syndrome
OMIM:615314	TWIST1	7291	HP:0001263	Global developmental delay
OMIM:615314	TWIST1	7291	HP:0000954	Single transverse palmar crease
OMIM:615314	TWIST1	7291	HP:0001363	Craniosynostosis
OMIM:609308	POMT1	10585	HP:0001638	Cardiomyopathy
OMIM:609308	POMT1	10585	HP:0001270	Motor delay
OMIM:609308	POMT1	10585	HP:0001249	Intellectual disability
OMIM:609308	POMT1	10585	HP:0003325	Limb-girdle muscle weakness
OMIM:609308	POMT1	10585	HP:0002355	Difficulty walking
OMIM:609308	POMT1	10585	HP:0003677	Slow progression
OMIM:609308	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:609308	POMT1	10585	HP:0002938	Lumbar hyperlordosis
OMIM:609308	POMT1	10585	HP:0003828	Variable expressivity
OMIM:609308	POMT1	10585	HP:0000252	Microcephaly
OMIM:609308	POMT1	10585	HP:0003593	Infantile onset
OMIM:609308	POMT1	10585	HP:0001371	Flexion contracture
OMIM:609308	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:609308	POMT1	10585	HP:0003306	Spinal rigidity
OMIM:609308	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:114480	BRCA1	672	HP:0000006	Autosomal dominant inheritance
OMIM:114480	BRCA1	672	HP:0003002	Breast carcinoma
OMIM:114480	BRCA1	672	HP:0001425	Heterogeneous
OMIM:114480	BRCA2	675	HP:0000006	Autosomal dominant inheritance
OMIM:114480	BRCA2	675	HP:0003002	Breast carcinoma
OMIM:114480	BRCA2	675	HP:0001425	Heterogeneous
OMIM:114480	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:114480	KRAS	3845	HP:0003002	Breast carcinoma
OMIM:114480	KRAS	3845	HP:0001425	Heterogeneous
OMIM:114480	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:114480	PIK3CA	5290	HP:0003002	Breast carcinoma
OMIM:114480	PIK3CA	5290	HP:0001425	Heterogeneous
OMIM:114480	SLC22A18	5002	HP:0000006	Autosomal dominant inheritance
OMIM:114480	SLC22A18	5002	HP:0003002	Breast carcinoma
OMIM:114480	SLC22A18	5002	HP:0001425	Heterogeneous
OMIM:114480	PPM1D	8493	HP:0000006	Autosomal dominant inheritance
OMIM:114480	PPM1D	8493	HP:0003002	Breast carcinoma
OMIM:114480	PPM1D	8493	HP:0001425	Heterogeneous
OMIM:114480	AKT1	207	HP:0000006	Autosomal dominant inheritance
OMIM:114480	AKT1	207	HP:0003002	Breast carcinoma
OMIM:114480	AKT1	207	HP:0001425	Heterogeneous
OMIM:114480	PALB2	79728	HP:0000006	Autosomal dominant inheritance
OMIM:114480	PALB2	79728	HP:0003002	Breast carcinoma
OMIM:114480	PALB2	79728	HP:0001425	Heterogeneous
OMIM:114480	TSG101	7251	HP:0000006	Autosomal dominant inheritance
OMIM:114480	TSG101	7251	HP:0003002	Breast carcinoma
OMIM:114480	TSG101	7251	HP:0001425	Heterogeneous
OMIM:114480	KLLN	100144748	HP:0000006	Autosomal dominant inheritance
OMIM:114480	KLLN	100144748	HP:0003002	Breast carcinoma
OMIM:114480	KLLN	100144748	HP:0001425	Heterogeneous
OMIM:114480	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:114480	TP53	7157	HP:0003002	Breast carcinoma
OMIM:114480	TP53	7157	HP:0001425	Heterogeneous
OMIM:114480	RAD54L	8438	HP:0000006	Autosomal dominant inheritance
OMIM:114480	RAD54L	8438	HP:0003002	Breast carcinoma
OMIM:114480	RAD54L	8438	HP:0001425	Heterogeneous
OMIM:114480	BRIP1	83990	HP:0000006	Autosomal dominant inheritance
OMIM:114480	BRIP1	83990	HP:0003002	Breast carcinoma
OMIM:114480	BRIP1	83990	HP:0001425	Heterogeneous
OMIM:114480	XRCC2	7516	HP:0000006	Autosomal dominant inheritance
OMIM:114480	XRCC2	7516	HP:0003002	Breast carcinoma
OMIM:114480	XRCC2	7516	HP:0001425	Heterogeneous
OMIM:114480	RB1CC1	9821	HP:0000006	Autosomal dominant inheritance
OMIM:114480	RB1CC1	9821	HP:0003002	Breast carcinoma
OMIM:114480	RB1CC1	9821	HP:0001425	Heterogeneous
OMIM:223100	MCM6	4175	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:223100	MCM6	4175	HP:0000007	Autosomal recessive inheritance
OMIM:223100	MCM6	4175	HP:0002014	Diarrhea
ORPHANET:791	RLBP1	6017	HP:0000431	Wide nasal bridge
ORPHANET:791	RLBP1	6017	HP:0000597	Ophthalmoparesis
ORPHANET:791	RLBP1	6017	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	RLBP1	6017	HP:0000639	Nystagmus
ORPHANET:791	RLBP1	6017	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	RLBP1	6017	HP:0000463	Anteverted nares
ORPHANET:791	RLBP1	6017	HP:0000662	Nyctalopia
ORPHANET:791	RLBP1	6017	HP:0100543	Cognitive impairment
ORPHANET:791	RLBP1	6017	HP:0100689	Decreased corneal thickness
ORPHANET:791	RLBP1	6017	HP:0005978	Type II diabetes mellitus
ORPHANET:791	RLBP1	6017	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	RLBP1	6017	HP:0000518	Cataract
ORPHANET:791	RLBP1	6017	HP:0000987	Atypical scarring of skin
ORPHANET:791	RLBP1	6017	HP:0000512	Abnormal electroretinogram
ORPHANET:791	RLBP1	6017	HP:0000405	Conductive hearing impairment
ORPHANET:791	RLBP1	6017	HP:0000501	Glaucoma
ORPHANET:791	RLBP1	6017	HP:0001513	Obesity
ORPHANET:791	RLBP1	6017	HP:0000035	Abnormality of the testis
ORPHANET:791	RLBP1	6017	HP:0000505	Visual impairment
ORPHANET:791	RLBP1	6017	HP:0000648	Optic atrophy
ORPHANET:791	RLBP1	6017	HP:0000613	Photophobia
ORPHANET:791	RLBP1	6017	HP:0008736	Hypoplasia of penis
ORPHANET:791	RLBP1	6017	HP:0001347	Hyperreflexia
ORPHANET:791	RLBP1	6017	HP:0000842	Hyperinsulinemia
ORPHANET:791	SPATA7	55812	HP:0000431	Wide nasal bridge
ORPHANET:791	SPATA7	55812	HP:0000597	Ophthalmoparesis
ORPHANET:791	SPATA7	55812	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	SPATA7	55812	HP:0000639	Nystagmus
ORPHANET:791	SPATA7	55812	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	SPATA7	55812	HP:0000463	Anteverted nares
ORPHANET:791	SPATA7	55812	HP:0000662	Nyctalopia
ORPHANET:791	SPATA7	55812	HP:0100543	Cognitive impairment
ORPHANET:791	SPATA7	55812	HP:0100689	Decreased corneal thickness
ORPHANET:791	SPATA7	55812	HP:0005978	Type II diabetes mellitus
ORPHANET:791	SPATA7	55812	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	SPATA7	55812	HP:0000518	Cataract
ORPHANET:791	SPATA7	55812	HP:0000987	Atypical scarring of skin
ORPHANET:791	SPATA7	55812	HP:0000512	Abnormal electroretinogram
ORPHANET:791	SPATA7	55812	HP:0000405	Conductive hearing impairment
ORPHANET:791	SPATA7	55812	HP:0000501	Glaucoma
ORPHANET:791	SPATA7	55812	HP:0001513	Obesity
ORPHANET:791	SPATA7	55812	HP:0000035	Abnormality of the testis
ORPHANET:791	SPATA7	55812	HP:0000505	Visual impairment
ORPHANET:791	SPATA7	55812	HP:0000648	Optic atrophy
ORPHANET:791	SPATA7	55812	HP:0000613	Photophobia
ORPHANET:791	SPATA7	55812	HP:0008736	Hypoplasia of penis
ORPHANET:791	SPATA7	55812	HP:0001347	Hyperreflexia
ORPHANET:791	SPATA7	55812	HP:0000842	Hyperinsulinemia
ORPHANET:791	ARL6	84100	HP:0000431	Wide nasal bridge
ORPHANET:791	ARL6	84100	HP:0000597	Ophthalmoparesis
ORPHANET:791	ARL6	84100	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	ARL6	84100	HP:0000639	Nystagmus
ORPHANET:791	ARL6	84100	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	ARL6	84100	HP:0000463	Anteverted nares
ORPHANET:791	ARL6	84100	HP:0000662	Nyctalopia
ORPHANET:791	ARL6	84100	HP:0100543	Cognitive impairment
ORPHANET:791	ARL6	84100	HP:0100689	Decreased corneal thickness
ORPHANET:791	ARL6	84100	HP:0005978	Type II diabetes mellitus
ORPHANET:791	ARL6	84100	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	ARL6	84100	HP:0000518	Cataract
ORPHANET:791	ARL6	84100	HP:0000987	Atypical scarring of skin
ORPHANET:791	ARL6	84100	HP:0000512	Abnormal electroretinogram
ORPHANET:791	ARL6	84100	HP:0000405	Conductive hearing impairment
ORPHANET:791	ARL6	84100	HP:0000501	Glaucoma
ORPHANET:791	ARL6	84100	HP:0001513	Obesity
ORPHANET:791	ARL6	84100	HP:0000035	Abnormality of the testis
ORPHANET:791	ARL6	84100	HP:0000505	Visual impairment
ORPHANET:791	ARL6	84100	HP:0000648	Optic atrophy
ORPHANET:791	ARL6	84100	HP:0000613	Photophobia
ORPHANET:791	ARL6	84100	HP:0008736	Hypoplasia of penis
ORPHANET:791	ARL6	84100	HP:0001347	Hyperreflexia
ORPHANET:791	ARL6	84100	HP:0000842	Hyperinsulinemia
ORPHANET:791	CERKL	375298	HP:0000431	Wide nasal bridge
ORPHANET:791	CERKL	375298	HP:0000597	Ophthalmoparesis
ORPHANET:791	CERKL	375298	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	CERKL	375298	HP:0000639	Nystagmus
ORPHANET:791	CERKL	375298	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	CERKL	375298	HP:0000463	Anteverted nares
ORPHANET:791	CERKL	375298	HP:0000662	Nyctalopia
ORPHANET:791	CERKL	375298	HP:0100543	Cognitive impairment
ORPHANET:791	CERKL	375298	HP:0100689	Decreased corneal thickness
ORPHANET:791	CERKL	375298	HP:0005978	Type II diabetes mellitus
ORPHANET:791	CERKL	375298	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	CERKL	375298	HP:0000518	Cataract
ORPHANET:791	CERKL	375298	HP:0000987	Atypical scarring of skin
ORPHANET:791	CERKL	375298	HP:0000512	Abnormal electroretinogram
ORPHANET:791	CERKL	375298	HP:0000405	Conductive hearing impairment
ORPHANET:791	CERKL	375298	HP:0000501	Glaucoma
ORPHANET:791	CERKL	375298	HP:0001513	Obesity
ORPHANET:791	CERKL	375298	HP:0000035	Abnormality of the testis
ORPHANET:791	CERKL	375298	HP:0000505	Visual impairment
ORPHANET:791	CERKL	375298	HP:0000648	Optic atrophy
ORPHANET:791	CERKL	375298	HP:0000613	Photophobia
ORPHANET:791	CERKL	375298	HP:0008736	Hypoplasia of penis
ORPHANET:791	CERKL	375298	HP:0001347	Hyperreflexia
ORPHANET:791	CERKL	375298	HP:0000842	Hyperinsulinemia
ORPHANET:791	PRPF31	26121	HP:0000431	Wide nasal bridge
ORPHANET:791	PRPF31	26121	HP:0000597	Ophthalmoparesis
ORPHANET:791	PRPF31	26121	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	PRPF31	26121	HP:0000639	Nystagmus
ORPHANET:791	PRPF31	26121	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	PRPF31	26121	HP:0000463	Anteverted nares
ORPHANET:791	PRPF31	26121	HP:0000662	Nyctalopia
ORPHANET:791	PRPF31	26121	HP:0100543	Cognitive impairment
ORPHANET:791	PRPF31	26121	HP:0100689	Decreased corneal thickness
ORPHANET:791	PRPF31	26121	HP:0005978	Type II diabetes mellitus
ORPHANET:791	PRPF31	26121	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	PRPF31	26121	HP:0000518	Cataract
ORPHANET:791	PRPF31	26121	HP:0000987	Atypical scarring of skin
ORPHANET:791	PRPF31	26121	HP:0000512	Abnormal electroretinogram
ORPHANET:791	PRPF31	26121	HP:0000405	Conductive hearing impairment
ORPHANET:791	PRPF31	26121	HP:0000501	Glaucoma
ORPHANET:791	PRPF31	26121	HP:0001513	Obesity
ORPHANET:791	PRPF31	26121	HP:0000035	Abnormality of the testis
ORPHANET:791	PRPF31	26121	HP:0000505	Visual impairment
ORPHANET:791	PRPF31	26121	HP:0000648	Optic atrophy
ORPHANET:791	PRPF31	26121	HP:0000613	Photophobia
ORPHANET:791	PRPF31	26121	HP:0008736	Hypoplasia of penis
ORPHANET:791	PRPF31	26121	HP:0001347	Hyperreflexia
ORPHANET:791	PRPF31	26121	HP:0000842	Hyperinsulinemia
ORPHANET:791	TTC8	123016	HP:0000431	Wide nasal bridge
ORPHANET:791	TTC8	123016	HP:0000597	Ophthalmoparesis
ORPHANET:791	TTC8	123016	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	TTC8	123016	HP:0000639	Nystagmus
ORPHANET:791	TTC8	123016	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	TTC8	123016	HP:0000463	Anteverted nares
ORPHANET:791	TTC8	123016	HP:0000662	Nyctalopia
ORPHANET:791	TTC8	123016	HP:0100543	Cognitive impairment
ORPHANET:791	TTC8	123016	HP:0100689	Decreased corneal thickness
ORPHANET:791	TTC8	123016	HP:0005978	Type II diabetes mellitus
ORPHANET:791	TTC8	123016	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	TTC8	123016	HP:0000518	Cataract
ORPHANET:791	TTC8	123016	HP:0000987	Atypical scarring of skin
ORPHANET:791	TTC8	123016	HP:0000512	Abnormal electroretinogram
ORPHANET:791	TTC8	123016	HP:0000405	Conductive hearing impairment
ORPHANET:791	TTC8	123016	HP:0000501	Glaucoma
ORPHANET:791	TTC8	123016	HP:0001513	Obesity
ORPHANET:791	TTC8	123016	HP:0000035	Abnormality of the testis
ORPHANET:791	TTC8	123016	HP:0000505	Visual impairment
ORPHANET:791	TTC8	123016	HP:0000648	Optic atrophy
ORPHANET:791	TTC8	123016	HP:0000613	Photophobia
ORPHANET:791	TTC8	123016	HP:0008736	Hypoplasia of penis
ORPHANET:791	TTC8	123016	HP:0001347	Hyperreflexia
ORPHANET:791	TTC8	123016	HP:0000842	Hyperinsulinemia
ORPHANET:791	PROM1	8842	HP:0000431	Wide nasal bridge
ORPHANET:791	PROM1	8842	HP:0000597	Ophthalmoparesis
ORPHANET:791	PROM1	8842	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	PROM1	8842	HP:0000639	Nystagmus
ORPHANET:791	PROM1	8842	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	PROM1	8842	HP:0000463	Anteverted nares
ORPHANET:791	PROM1	8842	HP:0000662	Nyctalopia
ORPHANET:791	PROM1	8842	HP:0100543	Cognitive impairment
ORPHANET:791	PROM1	8842	HP:0100689	Decreased corneal thickness
ORPHANET:791	PROM1	8842	HP:0005978	Type II diabetes mellitus
ORPHANET:791	PROM1	8842	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	PROM1	8842	HP:0000518	Cataract
ORPHANET:791	PROM1	8842	HP:0000987	Atypical scarring of skin
ORPHANET:791	PROM1	8842	HP:0000512	Abnormal electroretinogram
ORPHANET:791	PROM1	8842	HP:0000405	Conductive hearing impairment
ORPHANET:791	PROM1	8842	HP:0000501	Glaucoma
ORPHANET:791	PROM1	8842	HP:0001513	Obesity
ORPHANET:791	PROM1	8842	HP:0000035	Abnormality of the testis
ORPHANET:791	PROM1	8842	HP:0000505	Visual impairment
ORPHANET:791	PROM1	8842	HP:0000648	Optic atrophy
ORPHANET:791	PROM1	8842	HP:0000613	Photophobia
ORPHANET:791	PROM1	8842	HP:0008736	Hypoplasia of penis
ORPHANET:791	PROM1	8842	HP:0001347	Hyperreflexia
ORPHANET:791	PROM1	8842	HP:0000842	Hyperinsulinemia
ORPHANET:791	LRAT	9227	HP:0000431	Wide nasal bridge
ORPHANET:791	LRAT	9227	HP:0000597	Ophthalmoparesis
ORPHANET:791	LRAT	9227	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	LRAT	9227	HP:0000639	Nystagmus
ORPHANET:791	LRAT	9227	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	LRAT	9227	HP:0000463	Anteverted nares
ORPHANET:791	LRAT	9227	HP:0000662	Nyctalopia
ORPHANET:791	LRAT	9227	HP:0100543	Cognitive impairment
ORPHANET:791	LRAT	9227	HP:0100689	Decreased corneal thickness
ORPHANET:791	LRAT	9227	HP:0005978	Type II diabetes mellitus
ORPHANET:791	LRAT	9227	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	LRAT	9227	HP:0000518	Cataract
ORPHANET:791	LRAT	9227	HP:0000987	Atypical scarring of skin
ORPHANET:791	LRAT	9227	HP:0000512	Abnormal electroretinogram
ORPHANET:791	LRAT	9227	HP:0000405	Conductive hearing impairment
ORPHANET:791	LRAT	9227	HP:0000501	Glaucoma
ORPHANET:791	LRAT	9227	HP:0001513	Obesity
ORPHANET:791	LRAT	9227	HP:0000035	Abnormality of the testis
ORPHANET:791	LRAT	9227	HP:0000505	Visual impairment
ORPHANET:791	LRAT	9227	HP:0000648	Optic atrophy
ORPHANET:791	LRAT	9227	HP:0000613	Photophobia
ORPHANET:791	LRAT	9227	HP:0008736	Hypoplasia of penis
ORPHANET:791	LRAT	9227	HP:0001347	Hyperreflexia
ORPHANET:791	LRAT	9227	HP:0000842	Hyperinsulinemia
ORPHANET:791	IFT140	9742	HP:0000431	Wide nasal bridge
ORPHANET:791	IFT140	9742	HP:0000597	Ophthalmoparesis
ORPHANET:791	IFT140	9742	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	IFT140	9742	HP:0000639	Nystagmus
ORPHANET:791	IFT140	9742	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	IFT140	9742	HP:0000463	Anteverted nares
ORPHANET:791	IFT140	9742	HP:0000662	Nyctalopia
ORPHANET:791	IFT140	9742	HP:0100543	Cognitive impairment
ORPHANET:791	IFT140	9742	HP:0100689	Decreased corneal thickness
ORPHANET:791	IFT140	9742	HP:0005978	Type II diabetes mellitus
ORPHANET:791	IFT140	9742	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	IFT140	9742	HP:0000518	Cataract
ORPHANET:791	IFT140	9742	HP:0000987	Atypical scarring of skin
ORPHANET:791	IFT140	9742	HP:0000512	Abnormal electroretinogram
ORPHANET:791	IFT140	9742	HP:0000405	Conductive hearing impairment
ORPHANET:791	IFT140	9742	HP:0000501	Glaucoma
ORPHANET:791	IFT140	9742	HP:0001513	Obesity
ORPHANET:791	IFT140	9742	HP:0000035	Abnormality of the testis
ORPHANET:791	IFT140	9742	HP:0000505	Visual impairment
ORPHANET:791	IFT140	9742	HP:0000648	Optic atrophy
ORPHANET:791	IFT140	9742	HP:0000613	Photophobia
ORPHANET:791	IFT140	9742	HP:0008736	Hypoplasia of penis
ORPHANET:791	IFT140	9742	HP:0001347	Hyperreflexia
ORPHANET:791	IFT140	9742	HP:0000842	Hyperinsulinemia
ORPHANET:791	BEST1	7439	HP:0000431	Wide nasal bridge
ORPHANET:791	BEST1	7439	HP:0000597	Ophthalmoparesis
ORPHANET:791	BEST1	7439	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	BEST1	7439	HP:0000639	Nystagmus
ORPHANET:791	BEST1	7439	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	BEST1	7439	HP:0000463	Anteverted nares
ORPHANET:791	BEST1	7439	HP:0000662	Nyctalopia
ORPHANET:791	BEST1	7439	HP:0100543	Cognitive impairment
ORPHANET:791	BEST1	7439	HP:0100689	Decreased corneal thickness
ORPHANET:791	BEST1	7439	HP:0005978	Type II diabetes mellitus
ORPHANET:791	BEST1	7439	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	BEST1	7439	HP:0000518	Cataract
ORPHANET:791	BEST1	7439	HP:0000987	Atypical scarring of skin
ORPHANET:791	BEST1	7439	HP:0000512	Abnormal electroretinogram
ORPHANET:791	BEST1	7439	HP:0000405	Conductive hearing impairment
ORPHANET:791	BEST1	7439	HP:0000501	Glaucoma
ORPHANET:791	BEST1	7439	HP:0001513	Obesity
ORPHANET:791	BEST1	7439	HP:0000035	Abnormality of the testis
ORPHANET:791	BEST1	7439	HP:0000505	Visual impairment
ORPHANET:791	BEST1	7439	HP:0000648	Optic atrophy
ORPHANET:791	BEST1	7439	HP:0000613	Photophobia
ORPHANET:791	BEST1	7439	HP:0008736	Hypoplasia of penis
ORPHANET:791	BEST1	7439	HP:0001347	Hyperreflexia
ORPHANET:791	BEST1	7439	HP:0000842	Hyperinsulinemia
ORPHANET:791	NEK2	4751	HP:0000431	Wide nasal bridge
ORPHANET:791	NEK2	4751	HP:0000597	Ophthalmoparesis
ORPHANET:791	NEK2	4751	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	NEK2	4751	HP:0000639	Nystagmus
ORPHANET:791	NEK2	4751	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	NEK2	4751	HP:0000463	Anteverted nares
ORPHANET:791	NEK2	4751	HP:0000662	Nyctalopia
ORPHANET:791	NEK2	4751	HP:0100543	Cognitive impairment
ORPHANET:791	NEK2	4751	HP:0100689	Decreased corneal thickness
ORPHANET:791	NEK2	4751	HP:0005978	Type II diabetes mellitus
ORPHANET:791	NEK2	4751	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	NEK2	4751	HP:0000518	Cataract
ORPHANET:791	NEK2	4751	HP:0000987	Atypical scarring of skin
ORPHANET:791	NEK2	4751	HP:0000512	Abnormal electroretinogram
ORPHANET:791	NEK2	4751	HP:0000405	Conductive hearing impairment
ORPHANET:791	NEK2	4751	HP:0000501	Glaucoma
ORPHANET:791	NEK2	4751	HP:0001513	Obesity
ORPHANET:791	NEK2	4751	HP:0000035	Abnormality of the testis
ORPHANET:791	NEK2	4751	HP:0000505	Visual impairment
ORPHANET:791	NEK2	4751	HP:0000648	Optic atrophy
ORPHANET:791	NEK2	4751	HP:0000613	Photophobia
ORPHANET:791	NEK2	4751	HP:0008736	Hypoplasia of penis
ORPHANET:791	NEK2	4751	HP:0001347	Hyperreflexia
ORPHANET:791	NEK2	4751	HP:0000842	Hyperinsulinemia
ORPHANET:791	ARL2BP	23568	HP:0000431	Wide nasal bridge
ORPHANET:791	ARL2BP	23568	HP:0000597	Ophthalmoparesis
ORPHANET:791	ARL2BP	23568	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	ARL2BP	23568	HP:0000639	Nystagmus
ORPHANET:791	ARL2BP	23568	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	ARL2BP	23568	HP:0000463	Anteverted nares
ORPHANET:791	ARL2BP	23568	HP:0000662	Nyctalopia
ORPHANET:791	ARL2BP	23568	HP:0100543	Cognitive impairment
ORPHANET:791	ARL2BP	23568	HP:0100689	Decreased corneal thickness
ORPHANET:791	ARL2BP	23568	HP:0005978	Type II diabetes mellitus
ORPHANET:791	ARL2BP	23568	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	ARL2BP	23568	HP:0000518	Cataract
ORPHANET:791	ARL2BP	23568	HP:0000987	Atypical scarring of skin
ORPHANET:791	ARL2BP	23568	HP:0000512	Abnormal electroretinogram
ORPHANET:791	ARL2BP	23568	HP:0000405	Conductive hearing impairment
ORPHANET:791	ARL2BP	23568	HP:0000501	Glaucoma
ORPHANET:791	ARL2BP	23568	HP:0001513	Obesity
ORPHANET:791	ARL2BP	23568	HP:0000035	Abnormality of the testis
ORPHANET:791	ARL2BP	23568	HP:0000505	Visual impairment
ORPHANET:791	ARL2BP	23568	HP:0000648	Optic atrophy
ORPHANET:791	ARL2BP	23568	HP:0000613	Photophobia
ORPHANET:791	ARL2BP	23568	HP:0008736	Hypoplasia of penis
ORPHANET:791	ARL2BP	23568	HP:0001347	Hyperreflexia
ORPHANET:791	ARL2BP	23568	HP:0000842	Hyperinsulinemia
ORPHANET:791	NR2E3	10002	HP:0000431	Wide nasal bridge
ORPHANET:791	NR2E3	10002	HP:0000597	Ophthalmoparesis
ORPHANET:791	NR2E3	10002	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	NR2E3	10002	HP:0000639	Nystagmus
ORPHANET:791	NR2E3	10002	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	NR2E3	10002	HP:0000463	Anteverted nares
ORPHANET:791	NR2E3	10002	HP:0000662	Nyctalopia
ORPHANET:791	NR2E3	10002	HP:0100543	Cognitive impairment
ORPHANET:791	NR2E3	10002	HP:0100689	Decreased corneal thickness
ORPHANET:791	NR2E3	10002	HP:0005978	Type II diabetes mellitus
ORPHANET:791	NR2E3	10002	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	NR2E3	10002	HP:0000518	Cataract
ORPHANET:791	NR2E3	10002	HP:0000987	Atypical scarring of skin
ORPHANET:791	NR2E3	10002	HP:0000512	Abnormal electroretinogram
ORPHANET:791	NR2E3	10002	HP:0000405	Conductive hearing impairment
ORPHANET:791	NR2E3	10002	HP:0000501	Glaucoma
ORPHANET:791	NR2E3	10002	HP:0001513	Obesity
ORPHANET:791	NR2E3	10002	HP:0000035	Abnormality of the testis
ORPHANET:791	NR2E3	10002	HP:0000505	Visual impairment
ORPHANET:791	NR2E3	10002	HP:0000648	Optic atrophy
ORPHANET:791	NR2E3	10002	HP:0000613	Photophobia
ORPHANET:791	NR2E3	10002	HP:0008736	Hypoplasia of penis
ORPHANET:791	NR2E3	10002	HP:0001347	Hyperreflexia
ORPHANET:791	NR2E3	10002	HP:0000842	Hyperinsulinemia
ORPHANET:791	EYS	346007	HP:0000431	Wide nasal bridge
ORPHANET:791	EYS	346007	HP:0000597	Ophthalmoparesis
ORPHANET:791	EYS	346007	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	EYS	346007	HP:0000639	Nystagmus
ORPHANET:791	EYS	346007	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	EYS	346007	HP:0000463	Anteverted nares
ORPHANET:791	EYS	346007	HP:0000662	Nyctalopia
ORPHANET:791	EYS	346007	HP:0100543	Cognitive impairment
ORPHANET:791	EYS	346007	HP:0100689	Decreased corneal thickness
ORPHANET:791	EYS	346007	HP:0005978	Type II diabetes mellitus
ORPHANET:791	EYS	346007	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	EYS	346007	HP:0000518	Cataract
ORPHANET:791	EYS	346007	HP:0000987	Atypical scarring of skin
ORPHANET:791	EYS	346007	HP:0000512	Abnormal electroretinogram
ORPHANET:791	EYS	346007	HP:0000405	Conductive hearing impairment
ORPHANET:791	EYS	346007	HP:0000501	Glaucoma
ORPHANET:791	EYS	346007	HP:0001513	Obesity
ORPHANET:791	EYS	346007	HP:0000035	Abnormality of the testis
ORPHANET:791	EYS	346007	HP:0000505	Visual impairment
ORPHANET:791	EYS	346007	HP:0000648	Optic atrophy
ORPHANET:791	EYS	346007	HP:0000613	Photophobia
ORPHANET:791	EYS	346007	HP:0008736	Hypoplasia of penis
ORPHANET:791	EYS	346007	HP:0001347	Hyperreflexia
ORPHANET:791	EYS	346007	HP:0000842	Hyperinsulinemia
ORPHANET:791	MAK	4117	HP:0000431	Wide nasal bridge
ORPHANET:791	MAK	4117	HP:0000597	Ophthalmoparesis
ORPHANET:791	MAK	4117	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	MAK	4117	HP:0000639	Nystagmus
ORPHANET:791	MAK	4117	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	MAK	4117	HP:0000463	Anteverted nares
ORPHANET:791	MAK	4117	HP:0000662	Nyctalopia
ORPHANET:791	MAK	4117	HP:0100543	Cognitive impairment
ORPHANET:791	MAK	4117	HP:0100689	Decreased corneal thickness
ORPHANET:791	MAK	4117	HP:0005978	Type II diabetes mellitus
ORPHANET:791	MAK	4117	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	MAK	4117	HP:0000518	Cataract
ORPHANET:791	MAK	4117	HP:0000987	Atypical scarring of skin
ORPHANET:791	MAK	4117	HP:0000512	Abnormal electroretinogram
ORPHANET:791	MAK	4117	HP:0000405	Conductive hearing impairment
ORPHANET:791	MAK	4117	HP:0000501	Glaucoma
ORPHANET:791	MAK	4117	HP:0001513	Obesity
ORPHANET:791	MAK	4117	HP:0000035	Abnormality of the testis
ORPHANET:791	MAK	4117	HP:0000505	Visual impairment
ORPHANET:791	MAK	4117	HP:0000648	Optic atrophy
ORPHANET:791	MAK	4117	HP:0000613	Photophobia
ORPHANET:791	MAK	4117	HP:0008736	Hypoplasia of penis
ORPHANET:791	MAK	4117	HP:0001347	Hyperreflexia
ORPHANET:791	MAK	4117	HP:0000842	Hyperinsulinemia
ORPHANET:791	SAG	6295	HP:0000431	Wide nasal bridge
ORPHANET:791	SAG	6295	HP:0000597	Ophthalmoparesis
ORPHANET:791	SAG	6295	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	SAG	6295	HP:0000639	Nystagmus
ORPHANET:791	SAG	6295	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	SAG	6295	HP:0000463	Anteverted nares
ORPHANET:791	SAG	6295	HP:0000662	Nyctalopia
ORPHANET:791	SAG	6295	HP:0100543	Cognitive impairment
ORPHANET:791	SAG	6295	HP:0100689	Decreased corneal thickness
ORPHANET:791	SAG	6295	HP:0005978	Type II diabetes mellitus
ORPHANET:791	SAG	6295	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	SAG	6295	HP:0000518	Cataract
ORPHANET:791	SAG	6295	HP:0000987	Atypical scarring of skin
ORPHANET:791	SAG	6295	HP:0000512	Abnormal electroretinogram
ORPHANET:791	SAG	6295	HP:0000405	Conductive hearing impairment
ORPHANET:791	SAG	6295	HP:0000501	Glaucoma
ORPHANET:791	SAG	6295	HP:0001513	Obesity
ORPHANET:791	SAG	6295	HP:0000035	Abnormality of the testis
ORPHANET:791	SAG	6295	HP:0000505	Visual impairment
ORPHANET:791	SAG	6295	HP:0000648	Optic atrophy
ORPHANET:791	SAG	6295	HP:0000613	Photophobia
ORPHANET:791	SAG	6295	HP:0008736	Hypoplasia of penis
ORPHANET:791	SAG	6295	HP:0001347	Hyperreflexia
ORPHANET:791	SAG	6295	HP:0000842	Hyperinsulinemia
ORPHANET:791	ABCA4	24	HP:0000431	Wide nasal bridge
ORPHANET:791	ABCA4	24	HP:0000597	Ophthalmoparesis
ORPHANET:791	ABCA4	24	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	ABCA4	24	HP:0000639	Nystagmus
ORPHANET:791	ABCA4	24	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	ABCA4	24	HP:0000463	Anteverted nares
ORPHANET:791	ABCA4	24	HP:0000662	Nyctalopia
ORPHANET:791	ABCA4	24	HP:0100543	Cognitive impairment
ORPHANET:791	ABCA4	24	HP:0100689	Decreased corneal thickness
ORPHANET:791	ABCA4	24	HP:0005978	Type II diabetes mellitus
ORPHANET:791	ABCA4	24	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	ABCA4	24	HP:0000518	Cataract
ORPHANET:791	ABCA4	24	HP:0000987	Atypical scarring of skin
ORPHANET:791	ABCA4	24	HP:0000512	Abnormal electroretinogram
ORPHANET:791	ABCA4	24	HP:0000405	Conductive hearing impairment
ORPHANET:791	ABCA4	24	HP:0000501	Glaucoma
ORPHANET:791	ABCA4	24	HP:0001513	Obesity
ORPHANET:791	ABCA4	24	HP:0000035	Abnormality of the testis
ORPHANET:791	ABCA4	24	HP:0000505	Visual impairment
ORPHANET:791	ABCA4	24	HP:0000648	Optic atrophy
ORPHANET:791	ABCA4	24	HP:0000613	Photophobia
ORPHANET:791	ABCA4	24	HP:0008736	Hypoplasia of penis
ORPHANET:791	ABCA4	24	HP:0001347	Hyperreflexia
ORPHANET:791	ABCA4	24	HP:0000842	Hyperinsulinemia
ORPHANET:791	PDE6A	5145	HP:0000431	Wide nasal bridge
ORPHANET:791	PDE6A	5145	HP:0000597	Ophthalmoparesis
ORPHANET:791	PDE6A	5145	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	PDE6A	5145	HP:0000639	Nystagmus
ORPHANET:791	PDE6A	5145	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	PDE6A	5145	HP:0000463	Anteverted nares
ORPHANET:791	PDE6A	5145	HP:0000662	Nyctalopia
ORPHANET:791	PDE6A	5145	HP:0100543	Cognitive impairment
ORPHANET:791	PDE6A	5145	HP:0100689	Decreased corneal thickness
ORPHANET:791	PDE6A	5145	HP:0005978	Type II diabetes mellitus
ORPHANET:791	PDE6A	5145	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	PDE6A	5145	HP:0000518	Cataract
ORPHANET:791	PDE6A	5145	HP:0000987	Atypical scarring of skin
ORPHANET:791	PDE6A	5145	HP:0000512	Abnormal electroretinogram
ORPHANET:791	PDE6A	5145	HP:0000405	Conductive hearing impairment
ORPHANET:791	PDE6A	5145	HP:0000501	Glaucoma
ORPHANET:791	PDE6A	5145	HP:0001513	Obesity
ORPHANET:791	PDE6A	5145	HP:0000035	Abnormality of the testis
ORPHANET:791	PDE6A	5145	HP:0000505	Visual impairment
ORPHANET:791	PDE6A	5145	HP:0000648	Optic atrophy
ORPHANET:791	PDE6A	5145	HP:0000613	Photophobia
ORPHANET:791	PDE6A	5145	HP:0008736	Hypoplasia of penis
ORPHANET:791	PDE6A	5145	HP:0001347	Hyperreflexia
ORPHANET:791	PDE6A	5145	HP:0000842	Hyperinsulinemia
ORPHANET:791	PDE6G	5148	HP:0000431	Wide nasal bridge
ORPHANET:791	PDE6G	5148	HP:0000597	Ophthalmoparesis
ORPHANET:791	PDE6G	5148	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	PDE6G	5148	HP:0000639	Nystagmus
ORPHANET:791	PDE6G	5148	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	PDE6G	5148	HP:0000463	Anteverted nares
ORPHANET:791	PDE6G	5148	HP:0000662	Nyctalopia
ORPHANET:791	PDE6G	5148	HP:0100543	Cognitive impairment
ORPHANET:791	PDE6G	5148	HP:0100689	Decreased corneal thickness
ORPHANET:791	PDE6G	5148	HP:0005978	Type II diabetes mellitus
ORPHANET:791	PDE6G	5148	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	PDE6G	5148	HP:0000518	Cataract
ORPHANET:791	PDE6G	5148	HP:0000987	Atypical scarring of skin
ORPHANET:791	PDE6G	5148	HP:0000512	Abnormal electroretinogram
ORPHANET:791	PDE6G	5148	HP:0000405	Conductive hearing impairment
ORPHANET:791	PDE6G	5148	HP:0000501	Glaucoma
ORPHANET:791	PDE6G	5148	HP:0001513	Obesity
ORPHANET:791	PDE6G	5148	HP:0000035	Abnormality of the testis
ORPHANET:791	PDE6G	5148	HP:0000505	Visual impairment
ORPHANET:791	PDE6G	5148	HP:0000648	Optic atrophy
ORPHANET:791	PDE6G	5148	HP:0000613	Photophobia
ORPHANET:791	PDE6G	5148	HP:0008736	Hypoplasia of penis
ORPHANET:791	PDE6G	5148	HP:0001347	Hyperreflexia
ORPHANET:791	PDE6G	5148	HP:0000842	Hyperinsulinemia
ORPHANET:791	IMPDH1	3614	HP:0000431	Wide nasal bridge
ORPHANET:791	IMPDH1	3614	HP:0000597	Ophthalmoparesis
ORPHANET:791	IMPDH1	3614	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	IMPDH1	3614	HP:0000639	Nystagmus
ORPHANET:791	IMPDH1	3614	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	IMPDH1	3614	HP:0000463	Anteverted nares
ORPHANET:791	IMPDH1	3614	HP:0000662	Nyctalopia
ORPHANET:791	IMPDH1	3614	HP:0100543	Cognitive impairment
ORPHANET:791	IMPDH1	3614	HP:0100689	Decreased corneal thickness
ORPHANET:791	IMPDH1	3614	HP:0005978	Type II diabetes mellitus
ORPHANET:791	IMPDH1	3614	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	IMPDH1	3614	HP:0000518	Cataract
ORPHANET:791	IMPDH1	3614	HP:0000987	Atypical scarring of skin
ORPHANET:791	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
ORPHANET:791	IMPDH1	3614	HP:0000405	Conductive hearing impairment
ORPHANET:791	IMPDH1	3614	HP:0000501	Glaucoma
ORPHANET:791	IMPDH1	3614	HP:0001513	Obesity
ORPHANET:791	IMPDH1	3614	HP:0000035	Abnormality of the testis
ORPHANET:791	IMPDH1	3614	HP:0000505	Visual impairment
ORPHANET:791	IMPDH1	3614	HP:0000648	Optic atrophy
ORPHANET:791	IMPDH1	3614	HP:0000613	Photophobia
ORPHANET:791	IMPDH1	3614	HP:0008736	Hypoplasia of penis
ORPHANET:791	IMPDH1	3614	HP:0001347	Hyperreflexia
ORPHANET:791	IMPDH1	3614	HP:0000842	Hyperinsulinemia
ORPHANET:791	OFD1	8481	HP:0000431	Wide nasal bridge
ORPHANET:791	OFD1	8481	HP:0000597	Ophthalmoparesis
ORPHANET:791	OFD1	8481	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	OFD1	8481	HP:0000639	Nystagmus
ORPHANET:791	OFD1	8481	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	OFD1	8481	HP:0000463	Anteverted nares
ORPHANET:791	OFD1	8481	HP:0000662	Nyctalopia
ORPHANET:791	OFD1	8481	HP:0100543	Cognitive impairment
ORPHANET:791	OFD1	8481	HP:0100689	Decreased corneal thickness
ORPHANET:791	OFD1	8481	HP:0005978	Type II diabetes mellitus
ORPHANET:791	OFD1	8481	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	OFD1	8481	HP:0000518	Cataract
ORPHANET:791	OFD1	8481	HP:0000987	Atypical scarring of skin
ORPHANET:791	OFD1	8481	HP:0000512	Abnormal electroretinogram
ORPHANET:791	OFD1	8481	HP:0000405	Conductive hearing impairment
ORPHANET:791	OFD1	8481	HP:0000501	Glaucoma
ORPHANET:791	OFD1	8481	HP:0001513	Obesity
ORPHANET:791	OFD1	8481	HP:0000035	Abnormality of the testis
ORPHANET:791	OFD1	8481	HP:0000505	Visual impairment
ORPHANET:791	OFD1	8481	HP:0000648	Optic atrophy
ORPHANET:791	OFD1	8481	HP:0000613	Photophobia
ORPHANET:791	OFD1	8481	HP:0008736	Hypoplasia of penis
ORPHANET:791	OFD1	8481	HP:0001347	Hyperreflexia
ORPHANET:791	OFD1	8481	HP:0000842	Hyperinsulinemia
ORPHANET:791	GUCA1B	2979	HP:0000431	Wide nasal bridge
ORPHANET:791	GUCA1B	2979	HP:0000597	Ophthalmoparesis
ORPHANET:791	GUCA1B	2979	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	GUCA1B	2979	HP:0000639	Nystagmus
ORPHANET:791	GUCA1B	2979	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	GUCA1B	2979	HP:0000463	Anteverted nares
ORPHANET:791	GUCA1B	2979	HP:0000662	Nyctalopia
ORPHANET:791	GUCA1B	2979	HP:0100543	Cognitive impairment
ORPHANET:791	GUCA1B	2979	HP:0100689	Decreased corneal thickness
ORPHANET:791	GUCA1B	2979	HP:0005978	Type II diabetes mellitus
ORPHANET:791	GUCA1B	2979	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	GUCA1B	2979	HP:0000518	Cataract
ORPHANET:791	GUCA1B	2979	HP:0000987	Atypical scarring of skin
ORPHANET:791	GUCA1B	2979	HP:0000512	Abnormal electroretinogram
ORPHANET:791	GUCA1B	2979	HP:0000405	Conductive hearing impairment
ORPHANET:791	GUCA1B	2979	HP:0000501	Glaucoma
ORPHANET:791	GUCA1B	2979	HP:0001513	Obesity
ORPHANET:791	GUCA1B	2979	HP:0000035	Abnormality of the testis
ORPHANET:791	GUCA1B	2979	HP:0000505	Visual impairment
ORPHANET:791	GUCA1B	2979	HP:0000648	Optic atrophy
ORPHANET:791	GUCA1B	2979	HP:0000613	Photophobia
ORPHANET:791	GUCA1B	2979	HP:0008736	Hypoplasia of penis
ORPHANET:791	GUCA1B	2979	HP:0001347	Hyperreflexia
ORPHANET:791	GUCA1B	2979	HP:0000842	Hyperinsulinemia
ORPHANET:791	NRL	4901	HP:0000431	Wide nasal bridge
ORPHANET:791	NRL	4901	HP:0000597	Ophthalmoparesis
ORPHANET:791	NRL	4901	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	NRL	4901	HP:0000639	Nystagmus
ORPHANET:791	NRL	4901	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	NRL	4901	HP:0000463	Anteverted nares
ORPHANET:791	NRL	4901	HP:0000662	Nyctalopia
ORPHANET:791	NRL	4901	HP:0100543	Cognitive impairment
ORPHANET:791	NRL	4901	HP:0100689	Decreased corneal thickness
ORPHANET:791	NRL	4901	HP:0005978	Type II diabetes mellitus
ORPHANET:791	NRL	4901	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	NRL	4901	HP:0000518	Cataract
ORPHANET:791	NRL	4901	HP:0000987	Atypical scarring of skin
ORPHANET:791	NRL	4901	HP:0000512	Abnormal electroretinogram
ORPHANET:791	NRL	4901	HP:0000405	Conductive hearing impairment
ORPHANET:791	NRL	4901	HP:0000501	Glaucoma
ORPHANET:791	NRL	4901	HP:0001513	Obesity
ORPHANET:791	NRL	4901	HP:0000035	Abnormality of the testis
ORPHANET:791	NRL	4901	HP:0000505	Visual impairment
ORPHANET:791	NRL	4901	HP:0000648	Optic atrophy
ORPHANET:791	NRL	4901	HP:0000613	Photophobia
ORPHANET:791	NRL	4901	HP:0008736	Hypoplasia of penis
ORPHANET:791	NRL	4901	HP:0001347	Hyperreflexia
ORPHANET:791	NRL	4901	HP:0000842	Hyperinsulinemia
ORPHANET:791	PDE6B	5158	HP:0000431	Wide nasal bridge
ORPHANET:791	PDE6B	5158	HP:0000597	Ophthalmoparesis
ORPHANET:791	PDE6B	5158	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	PDE6B	5158	HP:0000639	Nystagmus
ORPHANET:791	PDE6B	5158	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	PDE6B	5158	HP:0000463	Anteverted nares
ORPHANET:791	PDE6B	5158	HP:0000662	Nyctalopia
ORPHANET:791	PDE6B	5158	HP:0100543	Cognitive impairment
ORPHANET:791	PDE6B	5158	HP:0100689	Decreased corneal thickness
ORPHANET:791	PDE6B	5158	HP:0005978	Type II diabetes mellitus
ORPHANET:791	PDE6B	5158	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	PDE6B	5158	HP:0000518	Cataract
ORPHANET:791	PDE6B	5158	HP:0000987	Atypical scarring of skin
ORPHANET:791	PDE6B	5158	HP:0000512	Abnormal electroretinogram
ORPHANET:791	PDE6B	5158	HP:0000405	Conductive hearing impairment
ORPHANET:791	PDE6B	5158	HP:0000501	Glaucoma
ORPHANET:791	PDE6B	5158	HP:0001513	Obesity
ORPHANET:791	PDE6B	5158	HP:0000035	Abnormality of the testis
ORPHANET:791	PDE6B	5158	HP:0000505	Visual impairment
ORPHANET:791	PDE6B	5158	HP:0000648	Optic atrophy
ORPHANET:791	PDE6B	5158	HP:0000613	Photophobia
ORPHANET:791	PDE6B	5158	HP:0008736	Hypoplasia of penis
ORPHANET:791	PDE6B	5158	HP:0001347	Hyperreflexia
ORPHANET:791	PDE6B	5158	HP:0000842	Hyperinsulinemia
ORPHANET:791	KLHL7	55975	HP:0000431	Wide nasal bridge
ORPHANET:791	KLHL7	55975	HP:0000597	Ophthalmoparesis
ORPHANET:791	KLHL7	55975	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	KLHL7	55975	HP:0000639	Nystagmus
ORPHANET:791	KLHL7	55975	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	KLHL7	55975	HP:0000463	Anteverted nares
ORPHANET:791	KLHL7	55975	HP:0000662	Nyctalopia
ORPHANET:791	KLHL7	55975	HP:0100543	Cognitive impairment
ORPHANET:791	KLHL7	55975	HP:0100689	Decreased corneal thickness
ORPHANET:791	KLHL7	55975	HP:0005978	Type II diabetes mellitus
ORPHANET:791	KLHL7	55975	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	KLHL7	55975	HP:0000518	Cataract
ORPHANET:791	KLHL7	55975	HP:0000987	Atypical scarring of skin
ORPHANET:791	KLHL7	55975	HP:0000512	Abnormal electroretinogram
ORPHANET:791	KLHL7	55975	HP:0000405	Conductive hearing impairment
ORPHANET:791	KLHL7	55975	HP:0000501	Glaucoma
ORPHANET:791	KLHL7	55975	HP:0001513	Obesity
ORPHANET:791	KLHL7	55975	HP:0000035	Abnormality of the testis
ORPHANET:791	KLHL7	55975	HP:0000505	Visual impairment
ORPHANET:791	KLHL7	55975	HP:0000648	Optic atrophy
ORPHANET:791	KLHL7	55975	HP:0000613	Photophobia
ORPHANET:791	KLHL7	55975	HP:0008736	Hypoplasia of penis
ORPHANET:791	KLHL7	55975	HP:0001347	Hyperreflexia
ORPHANET:791	KLHL7	55975	HP:0000842	Hyperinsulinemia
ORPHANET:791	PRPF4	9128	HP:0000431	Wide nasal bridge
ORPHANET:791	PRPF4	9128	HP:0000597	Ophthalmoparesis
ORPHANET:791	PRPF4	9128	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	PRPF4	9128	HP:0000639	Nystagmus
ORPHANET:791	PRPF4	9128	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	PRPF4	9128	HP:0000463	Anteverted nares
ORPHANET:791	PRPF4	9128	HP:0000662	Nyctalopia
ORPHANET:791	PRPF4	9128	HP:0100543	Cognitive impairment
ORPHANET:791	PRPF4	9128	HP:0100689	Decreased corneal thickness
ORPHANET:791	PRPF4	9128	HP:0005978	Type II diabetes mellitus
ORPHANET:791	PRPF4	9128	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	PRPF4	9128	HP:0000518	Cataract
ORPHANET:791	PRPF4	9128	HP:0000987	Atypical scarring of skin
ORPHANET:791	PRPF4	9128	HP:0000512	Abnormal electroretinogram
ORPHANET:791	PRPF4	9128	HP:0000405	Conductive hearing impairment
ORPHANET:791	PRPF4	9128	HP:0000501	Glaucoma
ORPHANET:791	PRPF4	9128	HP:0001513	Obesity
ORPHANET:791	PRPF4	9128	HP:0000035	Abnormality of the testis
ORPHANET:791	PRPF4	9128	HP:0000505	Visual impairment
ORPHANET:791	PRPF4	9128	HP:0000648	Optic atrophy
ORPHANET:791	PRPF4	9128	HP:0000613	Photophobia
ORPHANET:791	PRPF4	9128	HP:0008736	Hypoplasia of penis
ORPHANET:791	PRPF4	9128	HP:0001347	Hyperreflexia
ORPHANET:791	PRPF4	9128	HP:0000842	Hyperinsulinemia
ORPHANET:791	PRPF3	9129	HP:0000431	Wide nasal bridge
ORPHANET:791	PRPF3	9129	HP:0000597	Ophthalmoparesis
ORPHANET:791	PRPF3	9129	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	PRPF3	9129	HP:0000639	Nystagmus
ORPHANET:791	PRPF3	9129	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	PRPF3	9129	HP:0000463	Anteverted nares
ORPHANET:791	PRPF3	9129	HP:0000662	Nyctalopia
ORPHANET:791	PRPF3	9129	HP:0100543	Cognitive impairment
ORPHANET:791	PRPF3	9129	HP:0100689	Decreased corneal thickness
ORPHANET:791	PRPF3	9129	HP:0005978	Type II diabetes mellitus
ORPHANET:791	PRPF3	9129	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	PRPF3	9129	HP:0000518	Cataract
ORPHANET:791	PRPF3	9129	HP:0000987	Atypical scarring of skin
ORPHANET:791	PRPF3	9129	HP:0000512	Abnormal electroretinogram
ORPHANET:791	PRPF3	9129	HP:0000405	Conductive hearing impairment
ORPHANET:791	PRPF3	9129	HP:0000501	Glaucoma
ORPHANET:791	PRPF3	9129	HP:0001513	Obesity
ORPHANET:791	PRPF3	9129	HP:0000035	Abnormality of the testis
ORPHANET:791	PRPF3	9129	HP:0000505	Visual impairment
ORPHANET:791	PRPF3	9129	HP:0000648	Optic atrophy
ORPHANET:791	PRPF3	9129	HP:0000613	Photophobia
ORPHANET:791	PRPF3	9129	HP:0008736	Hypoplasia of penis
ORPHANET:791	PRPF3	9129	HP:0001347	Hyperreflexia
ORPHANET:791	PRPF3	9129	HP:0000842	Hyperinsulinemia
ORPHANET:791	FAM161A	84140	HP:0000431	Wide nasal bridge
ORPHANET:791	FAM161A	84140	HP:0000597	Ophthalmoparesis
ORPHANET:791	FAM161A	84140	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	FAM161A	84140	HP:0000639	Nystagmus
ORPHANET:791	FAM161A	84140	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	FAM161A	84140	HP:0000463	Anteverted nares
ORPHANET:791	FAM161A	84140	HP:0000662	Nyctalopia
ORPHANET:791	FAM161A	84140	HP:0100543	Cognitive impairment
ORPHANET:791	FAM161A	84140	HP:0100689	Decreased corneal thickness
ORPHANET:791	FAM161A	84140	HP:0005978	Type II diabetes mellitus
ORPHANET:791	FAM161A	84140	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	FAM161A	84140	HP:0000518	Cataract
ORPHANET:791	FAM161A	84140	HP:0000987	Atypical scarring of skin
ORPHANET:791	FAM161A	84140	HP:0000512	Abnormal electroretinogram
ORPHANET:791	FAM161A	84140	HP:0000405	Conductive hearing impairment
ORPHANET:791	FAM161A	84140	HP:0000501	Glaucoma
ORPHANET:791	FAM161A	84140	HP:0001513	Obesity
ORPHANET:791	FAM161A	84140	HP:0000035	Abnormality of the testis
ORPHANET:791	FAM161A	84140	HP:0000505	Visual impairment
ORPHANET:791	FAM161A	84140	HP:0000648	Optic atrophy
ORPHANET:791	FAM161A	84140	HP:0000613	Photophobia
ORPHANET:791	FAM161A	84140	HP:0008736	Hypoplasia of penis
ORPHANET:791	FAM161A	84140	HP:0001347	Hyperreflexia
ORPHANET:791	FAM161A	84140	HP:0000842	Hyperinsulinemia
ORPHANET:791	IFT172	26160	HP:0000431	Wide nasal bridge
ORPHANET:791	IFT172	26160	HP:0000597	Ophthalmoparesis
ORPHANET:791	IFT172	26160	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	IFT172	26160	HP:0000639	Nystagmus
ORPHANET:791	IFT172	26160	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	IFT172	26160	HP:0000463	Anteverted nares
ORPHANET:791	IFT172	26160	HP:0000662	Nyctalopia
ORPHANET:791	IFT172	26160	HP:0100543	Cognitive impairment
ORPHANET:791	IFT172	26160	HP:0100689	Decreased corneal thickness
ORPHANET:791	IFT172	26160	HP:0005978	Type II diabetes mellitus
ORPHANET:791	IFT172	26160	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	IFT172	26160	HP:0000518	Cataract
ORPHANET:791	IFT172	26160	HP:0000987	Atypical scarring of skin
ORPHANET:791	IFT172	26160	HP:0000512	Abnormal electroretinogram
ORPHANET:791	IFT172	26160	HP:0000405	Conductive hearing impairment
ORPHANET:791	IFT172	26160	HP:0000501	Glaucoma
ORPHANET:791	IFT172	26160	HP:0001513	Obesity
ORPHANET:791	IFT172	26160	HP:0000035	Abnormality of the testis
ORPHANET:791	IFT172	26160	HP:0000505	Visual impairment
ORPHANET:791	IFT172	26160	HP:0000648	Optic atrophy
ORPHANET:791	IFT172	26160	HP:0000613	Photophobia
ORPHANET:791	IFT172	26160	HP:0008736	Hypoplasia of penis
ORPHANET:791	IFT172	26160	HP:0001347	Hyperreflexia
ORPHANET:791	IFT172	26160	HP:0000842	Hyperinsulinemia
ORPHANET:791	KIZ	55857	HP:0000431	Wide nasal bridge
ORPHANET:791	KIZ	55857	HP:0000597	Ophthalmoparesis
ORPHANET:791	KIZ	55857	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	KIZ	55857	HP:0000639	Nystagmus
ORPHANET:791	KIZ	55857	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	KIZ	55857	HP:0000463	Anteverted nares
ORPHANET:791	KIZ	55857	HP:0000662	Nyctalopia
ORPHANET:791	KIZ	55857	HP:0100543	Cognitive impairment
ORPHANET:791	KIZ	55857	HP:0100689	Decreased corneal thickness
ORPHANET:791	KIZ	55857	HP:0005978	Type II diabetes mellitus
ORPHANET:791	KIZ	55857	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	KIZ	55857	HP:0000518	Cataract
ORPHANET:791	KIZ	55857	HP:0000987	Atypical scarring of skin
ORPHANET:791	KIZ	55857	HP:0000512	Abnormal electroretinogram
ORPHANET:791	KIZ	55857	HP:0000405	Conductive hearing impairment
ORPHANET:791	KIZ	55857	HP:0000501	Glaucoma
ORPHANET:791	KIZ	55857	HP:0001513	Obesity
ORPHANET:791	KIZ	55857	HP:0000035	Abnormality of the testis
ORPHANET:791	KIZ	55857	HP:0000505	Visual impairment
ORPHANET:791	KIZ	55857	HP:0000648	Optic atrophy
ORPHANET:791	KIZ	55857	HP:0000613	Photophobia
ORPHANET:791	KIZ	55857	HP:0008736	Hypoplasia of penis
ORPHANET:791	KIZ	55857	HP:0001347	Hyperreflexia
ORPHANET:791	KIZ	55857	HP:0000842	Hyperinsulinemia
ORPHANET:791	CDHR1	92211	HP:0000431	Wide nasal bridge
ORPHANET:791	CDHR1	92211	HP:0000597	Ophthalmoparesis
ORPHANET:791	CDHR1	92211	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	CDHR1	92211	HP:0000639	Nystagmus
ORPHANET:791	CDHR1	92211	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	CDHR1	92211	HP:0000463	Anteverted nares
ORPHANET:791	CDHR1	92211	HP:0000662	Nyctalopia
ORPHANET:791	CDHR1	92211	HP:0100543	Cognitive impairment
ORPHANET:791	CDHR1	92211	HP:0100689	Decreased corneal thickness
ORPHANET:791	CDHR1	92211	HP:0005978	Type II diabetes mellitus
ORPHANET:791	CDHR1	92211	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	CDHR1	92211	HP:0000518	Cataract
ORPHANET:791	CDHR1	92211	HP:0000987	Atypical scarring of skin
ORPHANET:791	CDHR1	92211	HP:0000512	Abnormal electroretinogram
ORPHANET:791	CDHR1	92211	HP:0000405	Conductive hearing impairment
ORPHANET:791	CDHR1	92211	HP:0000501	Glaucoma
ORPHANET:791	CDHR1	92211	HP:0001513	Obesity
ORPHANET:791	CDHR1	92211	HP:0000035	Abnormality of the testis
ORPHANET:791	CDHR1	92211	HP:0000505	Visual impairment
ORPHANET:791	CDHR1	92211	HP:0000648	Optic atrophy
ORPHANET:791	CDHR1	92211	HP:0000613	Photophobia
ORPHANET:791	CDHR1	92211	HP:0008736	Hypoplasia of penis
ORPHANET:791	CDHR1	92211	HP:0001347	Hyperreflexia
ORPHANET:791	CDHR1	92211	HP:0000842	Hyperinsulinemia
ORPHANET:791	ZNF408	79797	HP:0000431	Wide nasal bridge
ORPHANET:791	ZNF408	79797	HP:0000597	Ophthalmoparesis
ORPHANET:791	ZNF408	79797	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	ZNF408	79797	HP:0000639	Nystagmus
ORPHANET:791	ZNF408	79797	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	ZNF408	79797	HP:0000463	Anteverted nares
ORPHANET:791	ZNF408	79797	HP:0000662	Nyctalopia
ORPHANET:791	ZNF408	79797	HP:0100543	Cognitive impairment
ORPHANET:791	ZNF408	79797	HP:0100689	Decreased corneal thickness
ORPHANET:791	ZNF408	79797	HP:0005978	Type II diabetes mellitus
ORPHANET:791	ZNF408	79797	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	ZNF408	79797	HP:0000518	Cataract
ORPHANET:791	ZNF408	79797	HP:0000987	Atypical scarring of skin
ORPHANET:791	ZNF408	79797	HP:0000512	Abnormal electroretinogram
ORPHANET:791	ZNF408	79797	HP:0000405	Conductive hearing impairment
ORPHANET:791	ZNF408	79797	HP:0000501	Glaucoma
ORPHANET:791	ZNF408	79797	HP:0001513	Obesity
ORPHANET:791	ZNF408	79797	HP:0000035	Abnormality of the testis
ORPHANET:791	ZNF408	79797	HP:0000505	Visual impairment
ORPHANET:791	ZNF408	79797	HP:0000648	Optic atrophy
ORPHANET:791	ZNF408	79797	HP:0000613	Photophobia
ORPHANET:791	ZNF408	79797	HP:0008736	Hypoplasia of penis
ORPHANET:791	ZNF408	79797	HP:0001347	Hyperreflexia
ORPHANET:791	ZNF408	79797	HP:0000842	Hyperinsulinemia
ORPHANET:791	RBP3	5949	HP:0000431	Wide nasal bridge
ORPHANET:791	RBP3	5949	HP:0000597	Ophthalmoparesis
ORPHANET:791	RBP3	5949	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	RBP3	5949	HP:0000639	Nystagmus
ORPHANET:791	RBP3	5949	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	RBP3	5949	HP:0000463	Anteverted nares
ORPHANET:791	RBP3	5949	HP:0000662	Nyctalopia
ORPHANET:791	RBP3	5949	HP:0100543	Cognitive impairment
ORPHANET:791	RBP3	5949	HP:0100689	Decreased corneal thickness
ORPHANET:791	RBP3	5949	HP:0005978	Type II diabetes mellitus
ORPHANET:791	RBP3	5949	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	RBP3	5949	HP:0000518	Cataract
ORPHANET:791	RBP3	5949	HP:0000987	Atypical scarring of skin
ORPHANET:791	RBP3	5949	HP:0000512	Abnormal electroretinogram
ORPHANET:791	RBP3	5949	HP:0000405	Conductive hearing impairment
ORPHANET:791	RBP3	5949	HP:0000501	Glaucoma
ORPHANET:791	RBP3	5949	HP:0001513	Obesity
ORPHANET:791	RBP3	5949	HP:0000035	Abnormality of the testis
ORPHANET:791	RBP3	5949	HP:0000505	Visual impairment
ORPHANET:791	RBP3	5949	HP:0000648	Optic atrophy
ORPHANET:791	RBP3	5949	HP:0000613	Photophobia
ORPHANET:791	RBP3	5949	HP:0008736	Hypoplasia of penis
ORPHANET:791	RBP3	5949	HP:0001347	Hyperreflexia
ORPHANET:791	RBP3	5949	HP:0000842	Hyperinsulinemia
ORPHANET:791	HGSNAT	138050	HP:0000431	Wide nasal bridge
ORPHANET:791	HGSNAT	138050	HP:0000597	Ophthalmoparesis
ORPHANET:791	HGSNAT	138050	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	HGSNAT	138050	HP:0000639	Nystagmus
ORPHANET:791	HGSNAT	138050	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	HGSNAT	138050	HP:0000463	Anteverted nares
ORPHANET:791	HGSNAT	138050	HP:0000662	Nyctalopia
ORPHANET:791	HGSNAT	138050	HP:0100543	Cognitive impairment
ORPHANET:791	HGSNAT	138050	HP:0100689	Decreased corneal thickness
ORPHANET:791	HGSNAT	138050	HP:0005978	Type II diabetes mellitus
ORPHANET:791	HGSNAT	138050	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	HGSNAT	138050	HP:0000518	Cataract
ORPHANET:791	HGSNAT	138050	HP:0000987	Atypical scarring of skin
ORPHANET:791	HGSNAT	138050	HP:0000512	Abnormal electroretinogram
ORPHANET:791	HGSNAT	138050	HP:0000405	Conductive hearing impairment
ORPHANET:791	HGSNAT	138050	HP:0000501	Glaucoma
ORPHANET:791	HGSNAT	138050	HP:0001513	Obesity
ORPHANET:791	HGSNAT	138050	HP:0000035	Abnormality of the testis
ORPHANET:791	HGSNAT	138050	HP:0000505	Visual impairment
ORPHANET:791	HGSNAT	138050	HP:0000648	Optic atrophy
ORPHANET:791	HGSNAT	138050	HP:0000613	Photophobia
ORPHANET:791	HGSNAT	138050	HP:0008736	Hypoplasia of penis
ORPHANET:791	HGSNAT	138050	HP:0001347	Hyperreflexia
ORPHANET:791	HGSNAT	138050	HP:0000842	Hyperinsulinemia
ORPHANET:791	FSCN2	25794	HP:0000431	Wide nasal bridge
ORPHANET:791	FSCN2	25794	HP:0000597	Ophthalmoparesis
ORPHANET:791	FSCN2	25794	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	FSCN2	25794	HP:0000639	Nystagmus
ORPHANET:791	FSCN2	25794	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	FSCN2	25794	HP:0000463	Anteverted nares
ORPHANET:791	FSCN2	25794	HP:0000662	Nyctalopia
ORPHANET:791	FSCN2	25794	HP:0100543	Cognitive impairment
ORPHANET:791	FSCN2	25794	HP:0100689	Decreased corneal thickness
ORPHANET:791	FSCN2	25794	HP:0005978	Type II diabetes mellitus
ORPHANET:791	FSCN2	25794	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	FSCN2	25794	HP:0000518	Cataract
ORPHANET:791	FSCN2	25794	HP:0000987	Atypical scarring of skin
ORPHANET:791	FSCN2	25794	HP:0000512	Abnormal electroretinogram
ORPHANET:791	FSCN2	25794	HP:0000405	Conductive hearing impairment
ORPHANET:791	FSCN2	25794	HP:0000501	Glaucoma
ORPHANET:791	FSCN2	25794	HP:0001513	Obesity
ORPHANET:791	FSCN2	25794	HP:0000035	Abnormality of the testis
ORPHANET:791	FSCN2	25794	HP:0000505	Visual impairment
ORPHANET:791	FSCN2	25794	HP:0000648	Optic atrophy
ORPHANET:791	FSCN2	25794	HP:0000613	Photophobia
ORPHANET:791	FSCN2	25794	HP:0008736	Hypoplasia of penis
ORPHANET:791	FSCN2	25794	HP:0001347	Hyperreflexia
ORPHANET:791	FSCN2	25794	HP:0000842	Hyperinsulinemia
ORPHANET:791	PRCD	768206	HP:0000431	Wide nasal bridge
ORPHANET:791	PRCD	768206	HP:0000597	Ophthalmoparesis
ORPHANET:791	PRCD	768206	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	PRCD	768206	HP:0000639	Nystagmus
ORPHANET:791	PRCD	768206	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	PRCD	768206	HP:0000463	Anteverted nares
ORPHANET:791	PRCD	768206	HP:0000662	Nyctalopia
ORPHANET:791	PRCD	768206	HP:0100543	Cognitive impairment
ORPHANET:791	PRCD	768206	HP:0100689	Decreased corneal thickness
ORPHANET:791	PRCD	768206	HP:0005978	Type II diabetes mellitus
ORPHANET:791	PRCD	768206	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	PRCD	768206	HP:0000518	Cataract
ORPHANET:791	PRCD	768206	HP:0000987	Atypical scarring of skin
ORPHANET:791	PRCD	768206	HP:0000512	Abnormal electroretinogram
ORPHANET:791	PRCD	768206	HP:0000405	Conductive hearing impairment
ORPHANET:791	PRCD	768206	HP:0000501	Glaucoma
ORPHANET:791	PRCD	768206	HP:0001513	Obesity
ORPHANET:791	PRCD	768206	HP:0000035	Abnormality of the testis
ORPHANET:791	PRCD	768206	HP:0000505	Visual impairment
ORPHANET:791	PRCD	768206	HP:0000648	Optic atrophy
ORPHANET:791	PRCD	768206	HP:0000613	Photophobia
ORPHANET:791	PRCD	768206	HP:0008736	Hypoplasia of penis
ORPHANET:791	PRCD	768206	HP:0001347	Hyperreflexia
ORPHANET:791	PRCD	768206	HP:0000842	Hyperinsulinemia
ORPHANET:791	BBS2	583	HP:0000431	Wide nasal bridge
ORPHANET:791	BBS2	583	HP:0000597	Ophthalmoparesis
ORPHANET:791	BBS2	583	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	BBS2	583	HP:0000639	Nystagmus
ORPHANET:791	BBS2	583	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	BBS2	583	HP:0000463	Anteverted nares
ORPHANET:791	BBS2	583	HP:0000662	Nyctalopia
ORPHANET:791	BBS2	583	HP:0100543	Cognitive impairment
ORPHANET:791	BBS2	583	HP:0100689	Decreased corneal thickness
ORPHANET:791	BBS2	583	HP:0005978	Type II diabetes mellitus
ORPHANET:791	BBS2	583	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	BBS2	583	HP:0000518	Cataract
ORPHANET:791	BBS2	583	HP:0000987	Atypical scarring of skin
ORPHANET:791	BBS2	583	HP:0000512	Abnormal electroretinogram
ORPHANET:791	BBS2	583	HP:0000405	Conductive hearing impairment
ORPHANET:791	BBS2	583	HP:0000501	Glaucoma
ORPHANET:791	BBS2	583	HP:0001513	Obesity
ORPHANET:791	BBS2	583	HP:0000035	Abnormality of the testis
ORPHANET:791	BBS2	583	HP:0000505	Visual impairment
ORPHANET:791	BBS2	583	HP:0000648	Optic atrophy
ORPHANET:791	BBS2	583	HP:0000613	Photophobia
ORPHANET:791	BBS2	583	HP:0008736	Hypoplasia of penis
ORPHANET:791	BBS2	583	HP:0001347	Hyperreflexia
ORPHANET:791	BBS2	583	HP:0000842	Hyperinsulinemia
ORPHANET:791	RDH12	145226	HP:0000431	Wide nasal bridge
ORPHANET:791	RDH12	145226	HP:0000597	Ophthalmoparesis
ORPHANET:791	RDH12	145226	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	RDH12	145226	HP:0000639	Nystagmus
ORPHANET:791	RDH12	145226	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	RDH12	145226	HP:0000463	Anteverted nares
ORPHANET:791	RDH12	145226	HP:0000662	Nyctalopia
ORPHANET:791	RDH12	145226	HP:0100543	Cognitive impairment
ORPHANET:791	RDH12	145226	HP:0100689	Decreased corneal thickness
ORPHANET:791	RDH12	145226	HP:0005978	Type II diabetes mellitus
ORPHANET:791	RDH12	145226	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	RDH12	145226	HP:0000518	Cataract
ORPHANET:791	RDH12	145226	HP:0000987	Atypical scarring of skin
ORPHANET:791	RDH12	145226	HP:0000512	Abnormal electroretinogram
ORPHANET:791	RDH12	145226	HP:0000405	Conductive hearing impairment
ORPHANET:791	RDH12	145226	HP:0000501	Glaucoma
ORPHANET:791	RDH12	145226	HP:0001513	Obesity
ORPHANET:791	RDH12	145226	HP:0000035	Abnormality of the testis
ORPHANET:791	RDH12	145226	HP:0000505	Visual impairment
ORPHANET:791	RDH12	145226	HP:0000648	Optic atrophy
ORPHANET:791	RDH12	145226	HP:0000613	Photophobia
ORPHANET:791	RDH12	145226	HP:0008736	Hypoplasia of penis
ORPHANET:791	RDH12	145226	HP:0001347	Hyperreflexia
ORPHANET:791	RDH12	145226	HP:0000842	Hyperinsulinemia
ORPHANET:791	PRPH2	5961	HP:0000431	Wide nasal bridge
ORPHANET:791	PRPH2	5961	HP:0000597	Ophthalmoparesis
ORPHANET:791	PRPH2	5961	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	PRPH2	5961	HP:0000639	Nystagmus
ORPHANET:791	PRPH2	5961	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	PRPH2	5961	HP:0000463	Anteverted nares
ORPHANET:791	PRPH2	5961	HP:0000662	Nyctalopia
ORPHANET:791	PRPH2	5961	HP:0100543	Cognitive impairment
ORPHANET:791	PRPH2	5961	HP:0100689	Decreased corneal thickness
ORPHANET:791	PRPH2	5961	HP:0005978	Type II diabetes mellitus
ORPHANET:791	PRPH2	5961	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	PRPH2	5961	HP:0000518	Cataract
ORPHANET:791	PRPH2	5961	HP:0000987	Atypical scarring of skin
ORPHANET:791	PRPH2	5961	HP:0000512	Abnormal electroretinogram
ORPHANET:791	PRPH2	5961	HP:0000405	Conductive hearing impairment
ORPHANET:791	PRPH2	5961	HP:0000501	Glaucoma
ORPHANET:791	PRPH2	5961	HP:0001513	Obesity
ORPHANET:791	PRPH2	5961	HP:0000035	Abnormality of the testis
ORPHANET:791	PRPH2	5961	HP:0000505	Visual impairment
ORPHANET:791	PRPH2	5961	HP:0000648	Optic atrophy
ORPHANET:791	PRPH2	5961	HP:0000613	Photophobia
ORPHANET:791	PRPH2	5961	HP:0008736	Hypoplasia of penis
ORPHANET:791	PRPH2	5961	HP:0001347	Hyperreflexia
ORPHANET:791	PRPH2	5961	HP:0000842	Hyperinsulinemia
ORPHANET:791	DHDDS	79947	HP:0000431	Wide nasal bridge
ORPHANET:791	DHDDS	79947	HP:0000597	Ophthalmoparesis
ORPHANET:791	DHDDS	79947	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	DHDDS	79947	HP:0000639	Nystagmus
ORPHANET:791	DHDDS	79947	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	DHDDS	79947	HP:0000463	Anteverted nares
ORPHANET:791	DHDDS	79947	HP:0000662	Nyctalopia
ORPHANET:791	DHDDS	79947	HP:0100543	Cognitive impairment
ORPHANET:791	DHDDS	79947	HP:0100689	Decreased corneal thickness
ORPHANET:791	DHDDS	79947	HP:0005978	Type II diabetes mellitus
ORPHANET:791	DHDDS	79947	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	DHDDS	79947	HP:0000518	Cataract
ORPHANET:791	DHDDS	79947	HP:0000987	Atypical scarring of skin
ORPHANET:791	DHDDS	79947	HP:0000512	Abnormal electroretinogram
ORPHANET:791	DHDDS	79947	HP:0000405	Conductive hearing impairment
ORPHANET:791	DHDDS	79947	HP:0000501	Glaucoma
ORPHANET:791	DHDDS	79947	HP:0001513	Obesity
ORPHANET:791	DHDDS	79947	HP:0000035	Abnormality of the testis
ORPHANET:791	DHDDS	79947	HP:0000505	Visual impairment
ORPHANET:791	DHDDS	79947	HP:0000648	Optic atrophy
ORPHANET:791	DHDDS	79947	HP:0000613	Photophobia
ORPHANET:791	DHDDS	79947	HP:0008736	Hypoplasia of penis
ORPHANET:791	DHDDS	79947	HP:0001347	Hyperreflexia
ORPHANET:791	DHDDS	79947	HP:0000842	Hyperinsulinemia
ORPHANET:791	ROM1	6094	HP:0000431	Wide nasal bridge
ORPHANET:791	ROM1	6094	HP:0000597	Ophthalmoparesis
ORPHANET:791	ROM1	6094	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	ROM1	6094	HP:0000639	Nystagmus
ORPHANET:791	ROM1	6094	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	ROM1	6094	HP:0000463	Anteverted nares
ORPHANET:791	ROM1	6094	HP:0000662	Nyctalopia
ORPHANET:791	ROM1	6094	HP:0100543	Cognitive impairment
ORPHANET:791	ROM1	6094	HP:0100689	Decreased corneal thickness
ORPHANET:791	ROM1	6094	HP:0005978	Type II diabetes mellitus
ORPHANET:791	ROM1	6094	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	ROM1	6094	HP:0000518	Cataract
ORPHANET:791	ROM1	6094	HP:0000987	Atypical scarring of skin
ORPHANET:791	ROM1	6094	HP:0000512	Abnormal electroretinogram
ORPHANET:791	ROM1	6094	HP:0000405	Conductive hearing impairment
ORPHANET:791	ROM1	6094	HP:0000501	Glaucoma
ORPHANET:791	ROM1	6094	HP:0001513	Obesity
ORPHANET:791	ROM1	6094	HP:0000035	Abnormality of the testis
ORPHANET:791	ROM1	6094	HP:0000505	Visual impairment
ORPHANET:791	ROM1	6094	HP:0000648	Optic atrophy
ORPHANET:791	ROM1	6094	HP:0000613	Photophobia
ORPHANET:791	ROM1	6094	HP:0008736	Hypoplasia of penis
ORPHANET:791	ROM1	6094	HP:0001347	Hyperreflexia
ORPHANET:791	ROM1	6094	HP:0000842	Hyperinsulinemia
ORPHANET:791	C2ORF71	388939	HP:0000431	Wide nasal bridge
ORPHANET:791	C2ORF71	388939	HP:0000597	Ophthalmoparesis
ORPHANET:791	C2ORF71	388939	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	C2ORF71	388939	HP:0000639	Nystagmus
ORPHANET:791	C2ORF71	388939	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	C2ORF71	388939	HP:0000463	Anteverted nares
ORPHANET:791	C2ORF71	388939	HP:0000662	Nyctalopia
ORPHANET:791	C2ORF71	388939	HP:0100543	Cognitive impairment
ORPHANET:791	C2ORF71	388939	HP:0100689	Decreased corneal thickness
ORPHANET:791	C2ORF71	388939	HP:0005978	Type II diabetes mellitus
ORPHANET:791	C2ORF71	388939	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	C2ORF71	388939	HP:0000518	Cataract
ORPHANET:791	C2ORF71	388939	HP:0000987	Atypical scarring of skin
ORPHANET:791	C2ORF71	388939	HP:0000512	Abnormal electroretinogram
ORPHANET:791	C2ORF71	388939	HP:0000405	Conductive hearing impairment
ORPHANET:791	C2ORF71	388939	HP:0000501	Glaucoma
ORPHANET:791	C2ORF71	388939	HP:0001513	Obesity
ORPHANET:791	C2ORF71	388939	HP:0000035	Abnormality of the testis
ORPHANET:791	C2ORF71	388939	HP:0000505	Visual impairment
ORPHANET:791	C2ORF71	388939	HP:0000648	Optic atrophy
ORPHANET:791	C2ORF71	388939	HP:0000613	Photophobia
ORPHANET:791	C2ORF71	388939	HP:0008736	Hypoplasia of penis
ORPHANET:791	C2ORF71	388939	HP:0001347	Hyperreflexia
ORPHANET:791	C2ORF71	388939	HP:0000842	Hyperinsulinemia
ORPHANET:791	RP9	6100	HP:0000431	Wide nasal bridge
ORPHANET:791	RP9	6100	HP:0000597	Ophthalmoparesis
ORPHANET:791	RP9	6100	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	RP9	6100	HP:0000639	Nystagmus
ORPHANET:791	RP9	6100	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	RP9	6100	HP:0000463	Anteverted nares
ORPHANET:791	RP9	6100	HP:0000662	Nyctalopia
ORPHANET:791	RP9	6100	HP:0100543	Cognitive impairment
ORPHANET:791	RP9	6100	HP:0100689	Decreased corneal thickness
ORPHANET:791	RP9	6100	HP:0005978	Type II diabetes mellitus
ORPHANET:791	RP9	6100	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	RP9	6100	HP:0000518	Cataract
ORPHANET:791	RP9	6100	HP:0000987	Atypical scarring of skin
ORPHANET:791	RP9	6100	HP:0000512	Abnormal electroretinogram
ORPHANET:791	RP9	6100	HP:0000405	Conductive hearing impairment
ORPHANET:791	RP9	6100	HP:0000501	Glaucoma
ORPHANET:791	RP9	6100	HP:0001513	Obesity
ORPHANET:791	RP9	6100	HP:0000035	Abnormality of the testis
ORPHANET:791	RP9	6100	HP:0000505	Visual impairment
ORPHANET:791	RP9	6100	HP:0000648	Optic atrophy
ORPHANET:791	RP9	6100	HP:0000613	Photophobia
ORPHANET:791	RP9	6100	HP:0008736	Hypoplasia of penis
ORPHANET:791	RP9	6100	HP:0001347	Hyperreflexia
ORPHANET:791	RP9	6100	HP:0000842	Hyperinsulinemia
ORPHANET:791	PRPF6	24148	HP:0000431	Wide nasal bridge
ORPHANET:791	PRPF6	24148	HP:0000597	Ophthalmoparesis
ORPHANET:791	PRPF6	24148	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	PRPF6	24148	HP:0000639	Nystagmus
ORPHANET:791	PRPF6	24148	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	PRPF6	24148	HP:0000463	Anteverted nares
ORPHANET:791	PRPF6	24148	HP:0000662	Nyctalopia
ORPHANET:791	PRPF6	24148	HP:0100543	Cognitive impairment
ORPHANET:791	PRPF6	24148	HP:0100689	Decreased corneal thickness
ORPHANET:791	PRPF6	24148	HP:0005978	Type II diabetes mellitus
ORPHANET:791	PRPF6	24148	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	PRPF6	24148	HP:0000518	Cataract
ORPHANET:791	PRPF6	24148	HP:0000987	Atypical scarring of skin
ORPHANET:791	PRPF6	24148	HP:0000512	Abnormal electroretinogram
ORPHANET:791	PRPF6	24148	HP:0000405	Conductive hearing impairment
ORPHANET:791	PRPF6	24148	HP:0000501	Glaucoma
ORPHANET:791	PRPF6	24148	HP:0001513	Obesity
ORPHANET:791	PRPF6	24148	HP:0000035	Abnormality of the testis
ORPHANET:791	PRPF6	24148	HP:0000505	Visual impairment
ORPHANET:791	PRPF6	24148	HP:0000648	Optic atrophy
ORPHANET:791	PRPF6	24148	HP:0000613	Photophobia
ORPHANET:791	PRPF6	24148	HP:0008736	Hypoplasia of penis
ORPHANET:791	PRPF6	24148	HP:0001347	Hyperreflexia
ORPHANET:791	PRPF6	24148	HP:0000842	Hyperinsulinemia
ORPHANET:791	RP1	6101	HP:0000431	Wide nasal bridge
ORPHANET:791	RP1	6101	HP:0000597	Ophthalmoparesis
ORPHANET:791	RP1	6101	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	RP1	6101	HP:0000639	Nystagmus
ORPHANET:791	RP1	6101	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	RP1	6101	HP:0000463	Anteverted nares
ORPHANET:791	RP1	6101	HP:0000662	Nyctalopia
ORPHANET:791	RP1	6101	HP:0100543	Cognitive impairment
ORPHANET:791	RP1	6101	HP:0100689	Decreased corneal thickness
ORPHANET:791	RP1	6101	HP:0005978	Type II diabetes mellitus
ORPHANET:791	RP1	6101	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	RP1	6101	HP:0000518	Cataract
ORPHANET:791	RP1	6101	HP:0000987	Atypical scarring of skin
ORPHANET:791	RP1	6101	HP:0000512	Abnormal electroretinogram
ORPHANET:791	RP1	6101	HP:0000405	Conductive hearing impairment
ORPHANET:791	RP1	6101	HP:0000501	Glaucoma
ORPHANET:791	RP1	6101	HP:0001513	Obesity
ORPHANET:791	RP1	6101	HP:0000035	Abnormality of the testis
ORPHANET:791	RP1	6101	HP:0000505	Visual impairment
ORPHANET:791	RP1	6101	HP:0000648	Optic atrophy
ORPHANET:791	RP1	6101	HP:0000613	Photophobia
ORPHANET:791	RP1	6101	HP:0008736	Hypoplasia of penis
ORPHANET:791	RP1	6101	HP:0001347	Hyperreflexia
ORPHANET:791	RP1	6101	HP:0000842	Hyperinsulinemia
ORPHANET:791	RP2	6102	HP:0000431	Wide nasal bridge
ORPHANET:791	RP2	6102	HP:0000597	Ophthalmoparesis
ORPHANET:791	RP2	6102	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	RP2	6102	HP:0000639	Nystagmus
ORPHANET:791	RP2	6102	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	RP2	6102	HP:0000463	Anteverted nares
ORPHANET:791	RP2	6102	HP:0000662	Nyctalopia
ORPHANET:791	RP2	6102	HP:0100543	Cognitive impairment
ORPHANET:791	RP2	6102	HP:0100689	Decreased corneal thickness
ORPHANET:791	RP2	6102	HP:0005978	Type II diabetes mellitus
ORPHANET:791	RP2	6102	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	RP2	6102	HP:0000518	Cataract
ORPHANET:791	RP2	6102	HP:0000987	Atypical scarring of skin
ORPHANET:791	RP2	6102	HP:0000512	Abnormal electroretinogram
ORPHANET:791	RP2	6102	HP:0000405	Conductive hearing impairment
ORPHANET:791	RP2	6102	HP:0000501	Glaucoma
ORPHANET:791	RP2	6102	HP:0001513	Obesity
ORPHANET:791	RP2	6102	HP:0000035	Abnormality of the testis
ORPHANET:791	RP2	6102	HP:0000505	Visual impairment
ORPHANET:791	RP2	6102	HP:0000648	Optic atrophy
ORPHANET:791	RP2	6102	HP:0000613	Photophobia
ORPHANET:791	RP2	6102	HP:0008736	Hypoplasia of penis
ORPHANET:791	RP2	6102	HP:0001347	Hyperreflexia
ORPHANET:791	RP2	6102	HP:0000842	Hyperinsulinemia
ORPHANET:791	RPGR	6103	HP:0000431	Wide nasal bridge
ORPHANET:791	RPGR	6103	HP:0000597	Ophthalmoparesis
ORPHANET:791	RPGR	6103	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	RPGR	6103	HP:0000639	Nystagmus
ORPHANET:791	RPGR	6103	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	RPGR	6103	HP:0000463	Anteverted nares
ORPHANET:791	RPGR	6103	HP:0000662	Nyctalopia
ORPHANET:791	RPGR	6103	HP:0100543	Cognitive impairment
ORPHANET:791	RPGR	6103	HP:0100689	Decreased corneal thickness
ORPHANET:791	RPGR	6103	HP:0005978	Type II diabetes mellitus
ORPHANET:791	RPGR	6103	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	RPGR	6103	HP:0000518	Cataract
ORPHANET:791	RPGR	6103	HP:0000987	Atypical scarring of skin
ORPHANET:791	RPGR	6103	HP:0000512	Abnormal electroretinogram
ORPHANET:791	RPGR	6103	HP:0000405	Conductive hearing impairment
ORPHANET:791	RPGR	6103	HP:0000501	Glaucoma
ORPHANET:791	RPGR	6103	HP:0001513	Obesity
ORPHANET:791	RPGR	6103	HP:0000035	Abnormality of the testis
ORPHANET:791	RPGR	6103	HP:0000505	Visual impairment
ORPHANET:791	RPGR	6103	HP:0000648	Optic atrophy
ORPHANET:791	RPGR	6103	HP:0000613	Photophobia
ORPHANET:791	RPGR	6103	HP:0008736	Hypoplasia of penis
ORPHANET:791	RPGR	6103	HP:0001347	Hyperreflexia
ORPHANET:791	RPGR	6103	HP:0000842	Hyperinsulinemia
ORPHANET:791	SEMA4A	64218	HP:0000431	Wide nasal bridge
ORPHANET:791	SEMA4A	64218	HP:0000597	Ophthalmoparesis
ORPHANET:791	SEMA4A	64218	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	SEMA4A	64218	HP:0000639	Nystagmus
ORPHANET:791	SEMA4A	64218	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	SEMA4A	64218	HP:0000463	Anteverted nares
ORPHANET:791	SEMA4A	64218	HP:0000662	Nyctalopia
ORPHANET:791	SEMA4A	64218	HP:0100543	Cognitive impairment
ORPHANET:791	SEMA4A	64218	HP:0100689	Decreased corneal thickness
ORPHANET:791	SEMA4A	64218	HP:0005978	Type II diabetes mellitus
ORPHANET:791	SEMA4A	64218	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	SEMA4A	64218	HP:0000518	Cataract
ORPHANET:791	SEMA4A	64218	HP:0000987	Atypical scarring of skin
ORPHANET:791	SEMA4A	64218	HP:0000512	Abnormal electroretinogram
ORPHANET:791	SEMA4A	64218	HP:0000405	Conductive hearing impairment
ORPHANET:791	SEMA4A	64218	HP:0000501	Glaucoma
ORPHANET:791	SEMA4A	64218	HP:0001513	Obesity
ORPHANET:791	SEMA4A	64218	HP:0000035	Abnormality of the testis
ORPHANET:791	SEMA4A	64218	HP:0000505	Visual impairment
ORPHANET:791	SEMA4A	64218	HP:0000648	Optic atrophy
ORPHANET:791	SEMA4A	64218	HP:0000613	Photophobia
ORPHANET:791	SEMA4A	64218	HP:0008736	Hypoplasia of penis
ORPHANET:791	SEMA4A	64218	HP:0001347	Hyperreflexia
ORPHANET:791	SEMA4A	64218	HP:0000842	Hyperinsulinemia
ORPHANET:791	C8ORF37	157657	HP:0000431	Wide nasal bridge
ORPHANET:791	C8ORF37	157657	HP:0000597	Ophthalmoparesis
ORPHANET:791	C8ORF37	157657	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	C8ORF37	157657	HP:0000639	Nystagmus
ORPHANET:791	C8ORF37	157657	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	C8ORF37	157657	HP:0000463	Anteverted nares
ORPHANET:791	C8ORF37	157657	HP:0000662	Nyctalopia
ORPHANET:791	C8ORF37	157657	HP:0100543	Cognitive impairment
ORPHANET:791	C8ORF37	157657	HP:0100689	Decreased corneal thickness
ORPHANET:791	C8ORF37	157657	HP:0005978	Type II diabetes mellitus
ORPHANET:791	C8ORF37	157657	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	C8ORF37	157657	HP:0000518	Cataract
ORPHANET:791	C8ORF37	157657	HP:0000987	Atypical scarring of skin
ORPHANET:791	C8ORF37	157657	HP:0000512	Abnormal electroretinogram
ORPHANET:791	C8ORF37	157657	HP:0000405	Conductive hearing impairment
ORPHANET:791	C8ORF37	157657	HP:0000501	Glaucoma
ORPHANET:791	C8ORF37	157657	HP:0001513	Obesity
ORPHANET:791	C8ORF37	157657	HP:0000035	Abnormality of the testis
ORPHANET:791	C8ORF37	157657	HP:0000505	Visual impairment
ORPHANET:791	C8ORF37	157657	HP:0000648	Optic atrophy
ORPHANET:791	C8ORF37	157657	HP:0000613	Photophobia
ORPHANET:791	C8ORF37	157657	HP:0008736	Hypoplasia of penis
ORPHANET:791	C8ORF37	157657	HP:0001347	Hyperreflexia
ORPHANET:791	C8ORF37	157657	HP:0000842	Hyperinsulinemia
ORPHANET:791	IDH3B	3420	HP:0000431	Wide nasal bridge
ORPHANET:791	IDH3B	3420	HP:0000597	Ophthalmoparesis
ORPHANET:791	IDH3B	3420	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	IDH3B	3420	HP:0000639	Nystagmus
ORPHANET:791	IDH3B	3420	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	IDH3B	3420	HP:0000463	Anteverted nares
ORPHANET:791	IDH3B	3420	HP:0000662	Nyctalopia
ORPHANET:791	IDH3B	3420	HP:0100543	Cognitive impairment
ORPHANET:791	IDH3B	3420	HP:0100689	Decreased corneal thickness
ORPHANET:791	IDH3B	3420	HP:0005978	Type II diabetes mellitus
ORPHANET:791	IDH3B	3420	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	IDH3B	3420	HP:0000518	Cataract
ORPHANET:791	IDH3B	3420	HP:0000987	Atypical scarring of skin
ORPHANET:791	IDH3B	3420	HP:0000512	Abnormal electroretinogram
ORPHANET:791	IDH3B	3420	HP:0000405	Conductive hearing impairment
ORPHANET:791	IDH3B	3420	HP:0000501	Glaucoma
ORPHANET:791	IDH3B	3420	HP:0001513	Obesity
ORPHANET:791	IDH3B	3420	HP:0000035	Abnormality of the testis
ORPHANET:791	IDH3B	3420	HP:0000505	Visual impairment
ORPHANET:791	IDH3B	3420	HP:0000648	Optic atrophy
ORPHANET:791	IDH3B	3420	HP:0000613	Photophobia
ORPHANET:791	IDH3B	3420	HP:0008736	Hypoplasia of penis
ORPHANET:791	IDH3B	3420	HP:0001347	Hyperreflexia
ORPHANET:791	IDH3B	3420	HP:0000842	Hyperinsulinemia
ORPHANET:791	MERTK	10461	HP:0000431	Wide nasal bridge
ORPHANET:791	MERTK	10461	HP:0000597	Ophthalmoparesis
ORPHANET:791	MERTK	10461	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	MERTK	10461	HP:0000639	Nystagmus
ORPHANET:791	MERTK	10461	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	MERTK	10461	HP:0000463	Anteverted nares
ORPHANET:791	MERTK	10461	HP:0000662	Nyctalopia
ORPHANET:791	MERTK	10461	HP:0100543	Cognitive impairment
ORPHANET:791	MERTK	10461	HP:0100689	Decreased corneal thickness
ORPHANET:791	MERTK	10461	HP:0005978	Type II diabetes mellitus
ORPHANET:791	MERTK	10461	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	MERTK	10461	HP:0000518	Cataract
ORPHANET:791	MERTK	10461	HP:0000987	Atypical scarring of skin
ORPHANET:791	MERTK	10461	HP:0000512	Abnormal electroretinogram
ORPHANET:791	MERTK	10461	HP:0000405	Conductive hearing impairment
ORPHANET:791	MERTK	10461	HP:0000501	Glaucoma
ORPHANET:791	MERTK	10461	HP:0001513	Obesity
ORPHANET:791	MERTK	10461	HP:0000035	Abnormality of the testis
ORPHANET:791	MERTK	10461	HP:0000505	Visual impairment
ORPHANET:791	MERTK	10461	HP:0000648	Optic atrophy
ORPHANET:791	MERTK	10461	HP:0000613	Photophobia
ORPHANET:791	MERTK	10461	HP:0008736	Hypoplasia of penis
ORPHANET:791	MERTK	10461	HP:0001347	Hyperreflexia
ORPHANET:791	MERTK	10461	HP:0000842	Hyperinsulinemia
ORPHANET:791	PRPF8	10594	HP:0000431	Wide nasal bridge
ORPHANET:791	PRPF8	10594	HP:0000597	Ophthalmoparesis
ORPHANET:791	PRPF8	10594	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	PRPF8	10594	HP:0000639	Nystagmus
ORPHANET:791	PRPF8	10594	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	PRPF8	10594	HP:0000463	Anteverted nares
ORPHANET:791	PRPF8	10594	HP:0000662	Nyctalopia
ORPHANET:791	PRPF8	10594	HP:0100543	Cognitive impairment
ORPHANET:791	PRPF8	10594	HP:0100689	Decreased corneal thickness
ORPHANET:791	PRPF8	10594	HP:0005978	Type II diabetes mellitus
ORPHANET:791	PRPF8	10594	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	PRPF8	10594	HP:0000518	Cataract
ORPHANET:791	PRPF8	10594	HP:0000987	Atypical scarring of skin
ORPHANET:791	PRPF8	10594	HP:0000512	Abnormal electroretinogram
ORPHANET:791	PRPF8	10594	HP:0000405	Conductive hearing impairment
ORPHANET:791	PRPF8	10594	HP:0000501	Glaucoma
ORPHANET:791	PRPF8	10594	HP:0001513	Obesity
ORPHANET:791	PRPF8	10594	HP:0000035	Abnormality of the testis
ORPHANET:791	PRPF8	10594	HP:0000505	Visual impairment
ORPHANET:791	PRPF8	10594	HP:0000648	Optic atrophy
ORPHANET:791	PRPF8	10594	HP:0000613	Photophobia
ORPHANET:791	PRPF8	10594	HP:0008736	Hypoplasia of penis
ORPHANET:791	PRPF8	10594	HP:0001347	Hyperreflexia
ORPHANET:791	PRPF8	10594	HP:0000842	Hyperinsulinemia
ORPHANET:791	TOPORS	10210	HP:0000431	Wide nasal bridge
ORPHANET:791	TOPORS	10210	HP:0000597	Ophthalmoparesis
ORPHANET:791	TOPORS	10210	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	TOPORS	10210	HP:0000639	Nystagmus
ORPHANET:791	TOPORS	10210	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	TOPORS	10210	HP:0000463	Anteverted nares
ORPHANET:791	TOPORS	10210	HP:0000662	Nyctalopia
ORPHANET:791	TOPORS	10210	HP:0100543	Cognitive impairment
ORPHANET:791	TOPORS	10210	HP:0100689	Decreased corneal thickness
ORPHANET:791	TOPORS	10210	HP:0005978	Type II diabetes mellitus
ORPHANET:791	TOPORS	10210	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	TOPORS	10210	HP:0000518	Cataract
ORPHANET:791	TOPORS	10210	HP:0000987	Atypical scarring of skin
ORPHANET:791	TOPORS	10210	HP:0000512	Abnormal electroretinogram
ORPHANET:791	TOPORS	10210	HP:0000405	Conductive hearing impairment
ORPHANET:791	TOPORS	10210	HP:0000501	Glaucoma
ORPHANET:791	TOPORS	10210	HP:0001513	Obesity
ORPHANET:791	TOPORS	10210	HP:0000035	Abnormality of the testis
ORPHANET:791	TOPORS	10210	HP:0000505	Visual impairment
ORPHANET:791	TOPORS	10210	HP:0000648	Optic atrophy
ORPHANET:791	TOPORS	10210	HP:0000613	Photophobia
ORPHANET:791	TOPORS	10210	HP:0008736	Hypoplasia of penis
ORPHANET:791	TOPORS	10210	HP:0001347	Hyperreflexia
ORPHANET:791	TOPORS	10210	HP:0000842	Hyperinsulinemia
ORPHANET:791	USH2A	7399	HP:0000431	Wide nasal bridge
ORPHANET:791	USH2A	7399	HP:0000597	Ophthalmoparesis
ORPHANET:791	USH2A	7399	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	USH2A	7399	HP:0000639	Nystagmus
ORPHANET:791	USH2A	7399	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	USH2A	7399	HP:0000463	Anteverted nares
ORPHANET:791	USH2A	7399	HP:0000662	Nyctalopia
ORPHANET:791	USH2A	7399	HP:0100543	Cognitive impairment
ORPHANET:791	USH2A	7399	HP:0100689	Decreased corneal thickness
ORPHANET:791	USH2A	7399	HP:0005978	Type II diabetes mellitus
ORPHANET:791	USH2A	7399	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	USH2A	7399	HP:0000518	Cataract
ORPHANET:791	USH2A	7399	HP:0000987	Atypical scarring of skin
ORPHANET:791	USH2A	7399	HP:0000512	Abnormal electroretinogram
ORPHANET:791	USH2A	7399	HP:0000405	Conductive hearing impairment
ORPHANET:791	USH2A	7399	HP:0000501	Glaucoma
ORPHANET:791	USH2A	7399	HP:0001513	Obesity
ORPHANET:791	USH2A	7399	HP:0000035	Abnormality of the testis
ORPHANET:791	USH2A	7399	HP:0000505	Visual impairment
ORPHANET:791	USH2A	7399	HP:0000648	Optic atrophy
ORPHANET:791	USH2A	7399	HP:0000613	Photophobia
ORPHANET:791	USH2A	7399	HP:0008736	Hypoplasia of penis
ORPHANET:791	USH2A	7399	HP:0001347	Hyperreflexia
ORPHANET:791	USH2A	7399	HP:0000842	Hyperinsulinemia
ORPHANET:791	RPE65	6121	HP:0000431	Wide nasal bridge
ORPHANET:791	RPE65	6121	HP:0000597	Ophthalmoparesis
ORPHANET:791	RPE65	6121	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	RPE65	6121	HP:0000639	Nystagmus
ORPHANET:791	RPE65	6121	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	RPE65	6121	HP:0000463	Anteverted nares
ORPHANET:791	RPE65	6121	HP:0000662	Nyctalopia
ORPHANET:791	RPE65	6121	HP:0100543	Cognitive impairment
ORPHANET:791	RPE65	6121	HP:0100689	Decreased corneal thickness
ORPHANET:791	RPE65	6121	HP:0005978	Type II diabetes mellitus
ORPHANET:791	RPE65	6121	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	RPE65	6121	HP:0000518	Cataract
ORPHANET:791	RPE65	6121	HP:0000987	Atypical scarring of skin
ORPHANET:791	RPE65	6121	HP:0000512	Abnormal electroretinogram
ORPHANET:791	RPE65	6121	HP:0000405	Conductive hearing impairment
ORPHANET:791	RPE65	6121	HP:0000501	Glaucoma
ORPHANET:791	RPE65	6121	HP:0001513	Obesity
ORPHANET:791	RPE65	6121	HP:0000035	Abnormality of the testis
ORPHANET:791	RPE65	6121	HP:0000505	Visual impairment
ORPHANET:791	RPE65	6121	HP:0000648	Optic atrophy
ORPHANET:791	RPE65	6121	HP:0000613	Photophobia
ORPHANET:791	RPE65	6121	HP:0008736	Hypoplasia of penis
ORPHANET:791	RPE65	6121	HP:0001347	Hyperreflexia
ORPHANET:791	RPE65	6121	HP:0000842	Hyperinsulinemia
ORPHANET:791	CLRN1	7401	HP:0000431	Wide nasal bridge
ORPHANET:791	CLRN1	7401	HP:0000597	Ophthalmoparesis
ORPHANET:791	CLRN1	7401	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	CLRN1	7401	HP:0000639	Nystagmus
ORPHANET:791	CLRN1	7401	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	CLRN1	7401	HP:0000463	Anteverted nares
ORPHANET:791	CLRN1	7401	HP:0000662	Nyctalopia
ORPHANET:791	CLRN1	7401	HP:0100543	Cognitive impairment
ORPHANET:791	CLRN1	7401	HP:0100689	Decreased corneal thickness
ORPHANET:791	CLRN1	7401	HP:0005978	Type II diabetes mellitus
ORPHANET:791	CLRN1	7401	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	CLRN1	7401	HP:0000518	Cataract
ORPHANET:791	CLRN1	7401	HP:0000987	Atypical scarring of skin
ORPHANET:791	CLRN1	7401	HP:0000512	Abnormal electroretinogram
ORPHANET:791	CLRN1	7401	HP:0000405	Conductive hearing impairment
ORPHANET:791	CLRN1	7401	HP:0000501	Glaucoma
ORPHANET:791	CLRN1	7401	HP:0001513	Obesity
ORPHANET:791	CLRN1	7401	HP:0000035	Abnormality of the testis
ORPHANET:791	CLRN1	7401	HP:0000505	Visual impairment
ORPHANET:791	CLRN1	7401	HP:0000648	Optic atrophy
ORPHANET:791	CLRN1	7401	HP:0000613	Photophobia
ORPHANET:791	CLRN1	7401	HP:0008736	Hypoplasia of penis
ORPHANET:791	CLRN1	7401	HP:0001347	Hyperreflexia
ORPHANET:791	CLRN1	7401	HP:0000842	Hyperinsulinemia
ORPHANET:791	CNGB1	1258	HP:0000431	Wide nasal bridge
ORPHANET:791	CNGB1	1258	HP:0000597	Ophthalmoparesis
ORPHANET:791	CNGB1	1258	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	CNGB1	1258	HP:0000639	Nystagmus
ORPHANET:791	CNGB1	1258	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	CNGB1	1258	HP:0000463	Anteverted nares
ORPHANET:791	CNGB1	1258	HP:0000662	Nyctalopia
ORPHANET:791	CNGB1	1258	HP:0100543	Cognitive impairment
ORPHANET:791	CNGB1	1258	HP:0100689	Decreased corneal thickness
ORPHANET:791	CNGB1	1258	HP:0005978	Type II diabetes mellitus
ORPHANET:791	CNGB1	1258	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	CNGB1	1258	HP:0000518	Cataract
ORPHANET:791	CNGB1	1258	HP:0000987	Atypical scarring of skin
ORPHANET:791	CNGB1	1258	HP:0000512	Abnormal electroretinogram
ORPHANET:791	CNGB1	1258	HP:0000405	Conductive hearing impairment
ORPHANET:791	CNGB1	1258	HP:0000501	Glaucoma
ORPHANET:791	CNGB1	1258	HP:0001513	Obesity
ORPHANET:791	CNGB1	1258	HP:0000035	Abnormality of the testis
ORPHANET:791	CNGB1	1258	HP:0000505	Visual impairment
ORPHANET:791	CNGB1	1258	HP:0000648	Optic atrophy
ORPHANET:791	CNGB1	1258	HP:0000613	Photophobia
ORPHANET:791	CNGB1	1258	HP:0008736	Hypoplasia of penis
ORPHANET:791	CNGB1	1258	HP:0001347	Hyperreflexia
ORPHANET:791	CNGB1	1258	HP:0000842	Hyperinsulinemia
ORPHANET:791	RGR	5995	HP:0000431	Wide nasal bridge
ORPHANET:791	RGR	5995	HP:0000597	Ophthalmoparesis
ORPHANET:791	RGR	5995	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	RGR	5995	HP:0000639	Nystagmus
ORPHANET:791	RGR	5995	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	RGR	5995	HP:0000463	Anteverted nares
ORPHANET:791	RGR	5995	HP:0000662	Nyctalopia
ORPHANET:791	RGR	5995	HP:0100543	Cognitive impairment
ORPHANET:791	RGR	5995	HP:0100689	Decreased corneal thickness
ORPHANET:791	RGR	5995	HP:0005978	Type II diabetes mellitus
ORPHANET:791	RGR	5995	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	RGR	5995	HP:0000518	Cataract
ORPHANET:791	RGR	5995	HP:0000987	Atypical scarring of skin
ORPHANET:791	RGR	5995	HP:0000512	Abnormal electroretinogram
ORPHANET:791	RGR	5995	HP:0000405	Conductive hearing impairment
ORPHANET:791	RGR	5995	HP:0000501	Glaucoma
ORPHANET:791	RGR	5995	HP:0001513	Obesity
ORPHANET:791	RGR	5995	HP:0000035	Abnormality of the testis
ORPHANET:791	RGR	5995	HP:0000505	Visual impairment
ORPHANET:791	RGR	5995	HP:0000648	Optic atrophy
ORPHANET:791	RGR	5995	HP:0000613	Photophobia
ORPHANET:791	RGR	5995	HP:0008736	Hypoplasia of penis
ORPHANET:791	RGR	5995	HP:0001347	Hyperreflexia
ORPHANET:791	RGR	5995	HP:0000842	Hyperinsulinemia
ORPHANET:791	CNGA1	1259	HP:0000431	Wide nasal bridge
ORPHANET:791	CNGA1	1259	HP:0000597	Ophthalmoparesis
ORPHANET:791	CNGA1	1259	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	CNGA1	1259	HP:0000639	Nystagmus
ORPHANET:791	CNGA1	1259	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	CNGA1	1259	HP:0000463	Anteverted nares
ORPHANET:791	CNGA1	1259	HP:0000662	Nyctalopia
ORPHANET:791	CNGA1	1259	HP:0100543	Cognitive impairment
ORPHANET:791	CNGA1	1259	HP:0100689	Decreased corneal thickness
ORPHANET:791	CNGA1	1259	HP:0005978	Type II diabetes mellitus
ORPHANET:791	CNGA1	1259	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	CNGA1	1259	HP:0000518	Cataract
ORPHANET:791	CNGA1	1259	HP:0000987	Atypical scarring of skin
ORPHANET:791	CNGA1	1259	HP:0000512	Abnormal electroretinogram
ORPHANET:791	CNGA1	1259	HP:0000405	Conductive hearing impairment
ORPHANET:791	CNGA1	1259	HP:0000501	Glaucoma
ORPHANET:791	CNGA1	1259	HP:0001513	Obesity
ORPHANET:791	CNGA1	1259	HP:0000035	Abnormality of the testis
ORPHANET:791	CNGA1	1259	HP:0000505	Visual impairment
ORPHANET:791	CNGA1	1259	HP:0000648	Optic atrophy
ORPHANET:791	CNGA1	1259	HP:0000613	Photophobia
ORPHANET:791	CNGA1	1259	HP:0008736	Hypoplasia of penis
ORPHANET:791	CNGA1	1259	HP:0001347	Hyperreflexia
ORPHANET:791	CNGA1	1259	HP:0000842	Hyperinsulinemia
ORPHANET:791	TUB	7275	HP:0000431	Wide nasal bridge
ORPHANET:791	TUB	7275	HP:0000597	Ophthalmoparesis
ORPHANET:791	TUB	7275	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	TUB	7275	HP:0000639	Nystagmus
ORPHANET:791	TUB	7275	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	TUB	7275	HP:0000463	Anteverted nares
ORPHANET:791	TUB	7275	HP:0000662	Nyctalopia
ORPHANET:791	TUB	7275	HP:0100543	Cognitive impairment
ORPHANET:791	TUB	7275	HP:0100689	Decreased corneal thickness
ORPHANET:791	TUB	7275	HP:0005978	Type II diabetes mellitus
ORPHANET:791	TUB	7275	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	TUB	7275	HP:0000518	Cataract
ORPHANET:791	TUB	7275	HP:0000987	Atypical scarring of skin
ORPHANET:791	TUB	7275	HP:0000512	Abnormal electroretinogram
ORPHANET:791	TUB	7275	HP:0000405	Conductive hearing impairment
ORPHANET:791	TUB	7275	HP:0000501	Glaucoma
ORPHANET:791	TUB	7275	HP:0001513	Obesity
ORPHANET:791	TUB	7275	HP:0000035	Abnormality of the testis
ORPHANET:791	TUB	7275	HP:0000505	Visual impairment
ORPHANET:791	TUB	7275	HP:0000648	Optic atrophy
ORPHANET:791	TUB	7275	HP:0000613	Photophobia
ORPHANET:791	TUB	7275	HP:0008736	Hypoplasia of penis
ORPHANET:791	TUB	7275	HP:0001347	Hyperreflexia
ORPHANET:791	TUB	7275	HP:0000842	Hyperinsulinemia
ORPHANET:791	SNRNP200	23020	HP:0000431	Wide nasal bridge
ORPHANET:791	SNRNP200	23020	HP:0000597	Ophthalmoparesis
ORPHANET:791	SNRNP200	23020	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	SNRNP200	23020	HP:0000639	Nystagmus
ORPHANET:791	SNRNP200	23020	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	SNRNP200	23020	HP:0000463	Anteverted nares
ORPHANET:791	SNRNP200	23020	HP:0000662	Nyctalopia
ORPHANET:791	SNRNP200	23020	HP:0100543	Cognitive impairment
ORPHANET:791	SNRNP200	23020	HP:0100689	Decreased corneal thickness
ORPHANET:791	SNRNP200	23020	HP:0005978	Type II diabetes mellitus
ORPHANET:791	SNRNP200	23020	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	SNRNP200	23020	HP:0000518	Cataract
ORPHANET:791	SNRNP200	23020	HP:0000987	Atypical scarring of skin
ORPHANET:791	SNRNP200	23020	HP:0000512	Abnormal electroretinogram
ORPHANET:791	SNRNP200	23020	HP:0000405	Conductive hearing impairment
ORPHANET:791	SNRNP200	23020	HP:0000501	Glaucoma
ORPHANET:791	SNRNP200	23020	HP:0001513	Obesity
ORPHANET:791	SNRNP200	23020	HP:0000035	Abnormality of the testis
ORPHANET:791	SNRNP200	23020	HP:0000505	Visual impairment
ORPHANET:791	SNRNP200	23020	HP:0000648	Optic atrophy
ORPHANET:791	SNRNP200	23020	HP:0000613	Photophobia
ORPHANET:791	SNRNP200	23020	HP:0008736	Hypoplasia of penis
ORPHANET:791	SNRNP200	23020	HP:0001347	Hyperreflexia
ORPHANET:791	SNRNP200	23020	HP:0000842	Hyperinsulinemia
ORPHANET:791	SLC7A14	57709	HP:0000431	Wide nasal bridge
ORPHANET:791	SLC7A14	57709	HP:0000597	Ophthalmoparesis
ORPHANET:791	SLC7A14	57709	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	SLC7A14	57709	HP:0000639	Nystagmus
ORPHANET:791	SLC7A14	57709	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	SLC7A14	57709	HP:0000463	Anteverted nares
ORPHANET:791	SLC7A14	57709	HP:0000662	Nyctalopia
ORPHANET:791	SLC7A14	57709	HP:0100543	Cognitive impairment
ORPHANET:791	SLC7A14	57709	HP:0100689	Decreased corneal thickness
ORPHANET:791	SLC7A14	57709	HP:0005978	Type II diabetes mellitus
ORPHANET:791	SLC7A14	57709	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	SLC7A14	57709	HP:0000518	Cataract
ORPHANET:791	SLC7A14	57709	HP:0000987	Atypical scarring of skin
ORPHANET:791	SLC7A14	57709	HP:0000512	Abnormal electroretinogram
ORPHANET:791	SLC7A14	57709	HP:0000405	Conductive hearing impairment
ORPHANET:791	SLC7A14	57709	HP:0000501	Glaucoma
ORPHANET:791	SLC7A14	57709	HP:0001513	Obesity
ORPHANET:791	SLC7A14	57709	HP:0000035	Abnormality of the testis
ORPHANET:791	SLC7A14	57709	HP:0000505	Visual impairment
ORPHANET:791	SLC7A14	57709	HP:0000648	Optic atrophy
ORPHANET:791	SLC7A14	57709	HP:0000613	Photophobia
ORPHANET:791	SLC7A14	57709	HP:0008736	Hypoplasia of penis
ORPHANET:791	SLC7A14	57709	HP:0001347	Hyperreflexia
ORPHANET:791	SLC7A14	57709	HP:0000842	Hyperinsulinemia
ORPHANET:791	TULP1	7287	HP:0000431	Wide nasal bridge
ORPHANET:791	TULP1	7287	HP:0000597	Ophthalmoparesis
ORPHANET:791	TULP1	7287	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	TULP1	7287	HP:0000639	Nystagmus
ORPHANET:791	TULP1	7287	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	TULP1	7287	HP:0000463	Anteverted nares
ORPHANET:791	TULP1	7287	HP:0000662	Nyctalopia
ORPHANET:791	TULP1	7287	HP:0100543	Cognitive impairment
ORPHANET:791	TULP1	7287	HP:0100689	Decreased corneal thickness
ORPHANET:791	TULP1	7287	HP:0005978	Type II diabetes mellitus
ORPHANET:791	TULP1	7287	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	TULP1	7287	HP:0000518	Cataract
ORPHANET:791	TULP1	7287	HP:0000987	Atypical scarring of skin
ORPHANET:791	TULP1	7287	HP:0000512	Abnormal electroretinogram
ORPHANET:791	TULP1	7287	HP:0000405	Conductive hearing impairment
ORPHANET:791	TULP1	7287	HP:0000501	Glaucoma
ORPHANET:791	TULP1	7287	HP:0001513	Obesity
ORPHANET:791	TULP1	7287	HP:0000035	Abnormality of the testis
ORPHANET:791	TULP1	7287	HP:0000505	Visual impairment
ORPHANET:791	TULP1	7287	HP:0000648	Optic atrophy
ORPHANET:791	TULP1	7287	HP:0000613	Photophobia
ORPHANET:791	TULP1	7287	HP:0008736	Hypoplasia of penis
ORPHANET:791	TULP1	7287	HP:0001347	Hyperreflexia
ORPHANET:791	TULP1	7287	HP:0000842	Hyperinsulinemia
ORPHANET:791	RHO	6010	HP:0000431	Wide nasal bridge
ORPHANET:791	RHO	6010	HP:0000597	Ophthalmoparesis
ORPHANET:791	RHO	6010	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	RHO	6010	HP:0000639	Nystagmus
ORPHANET:791	RHO	6010	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	RHO	6010	HP:0000463	Anteverted nares
ORPHANET:791	RHO	6010	HP:0000662	Nyctalopia
ORPHANET:791	RHO	6010	HP:0100543	Cognitive impairment
ORPHANET:791	RHO	6010	HP:0100689	Decreased corneal thickness
ORPHANET:791	RHO	6010	HP:0005978	Type II diabetes mellitus
ORPHANET:791	RHO	6010	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	RHO	6010	HP:0000518	Cataract
ORPHANET:791	RHO	6010	HP:0000987	Atypical scarring of skin
ORPHANET:791	RHO	6010	HP:0000512	Abnormal electroretinogram
ORPHANET:791	RHO	6010	HP:0000405	Conductive hearing impairment
ORPHANET:791	RHO	6010	HP:0000501	Glaucoma
ORPHANET:791	RHO	6010	HP:0001513	Obesity
ORPHANET:791	RHO	6010	HP:0000035	Abnormality of the testis
ORPHANET:791	RHO	6010	HP:0000505	Visual impairment
ORPHANET:791	RHO	6010	HP:0000648	Optic atrophy
ORPHANET:791	RHO	6010	HP:0000613	Photophobia
ORPHANET:791	RHO	6010	HP:0008736	Hypoplasia of penis
ORPHANET:791	RHO	6010	HP:0001347	Hyperreflexia
ORPHANET:791	RHO	6010	HP:0000842	Hyperinsulinemia
ORPHANET:791	CA4	762	HP:0000431	Wide nasal bridge
ORPHANET:791	CA4	762	HP:0000597	Ophthalmoparesis
ORPHANET:791	CA4	762	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	CA4	762	HP:0000639	Nystagmus
ORPHANET:791	CA4	762	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	CA4	762	HP:0000463	Anteverted nares
ORPHANET:791	CA4	762	HP:0000662	Nyctalopia
ORPHANET:791	CA4	762	HP:0100543	Cognitive impairment
ORPHANET:791	CA4	762	HP:0100689	Decreased corneal thickness
ORPHANET:791	CA4	762	HP:0005978	Type II diabetes mellitus
ORPHANET:791	CA4	762	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	CA4	762	HP:0000518	Cataract
ORPHANET:791	CA4	762	HP:0000987	Atypical scarring of skin
ORPHANET:791	CA4	762	HP:0000512	Abnormal electroretinogram
ORPHANET:791	CA4	762	HP:0000405	Conductive hearing impairment
ORPHANET:791	CA4	762	HP:0000501	Glaucoma
ORPHANET:791	CA4	762	HP:0001513	Obesity
ORPHANET:791	CA4	762	HP:0000035	Abnormality of the testis
ORPHANET:791	CA4	762	HP:0000505	Visual impairment
ORPHANET:791	CA4	762	HP:0000648	Optic atrophy
ORPHANET:791	CA4	762	HP:0000613	Photophobia
ORPHANET:791	CA4	762	HP:0008736	Hypoplasia of penis
ORPHANET:791	CA4	762	HP:0001347	Hyperreflexia
ORPHANET:791	CA4	762	HP:0000842	Hyperinsulinemia
ORPHANET:791	CRB1	23418	HP:0000431	Wide nasal bridge
ORPHANET:791	CRB1	23418	HP:0000597	Ophthalmoparesis
ORPHANET:791	CRB1	23418	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	CRB1	23418	HP:0000639	Nystagmus
ORPHANET:791	CRB1	23418	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	CRB1	23418	HP:0000463	Anteverted nares
ORPHANET:791	CRB1	23418	HP:0000662	Nyctalopia
ORPHANET:791	CRB1	23418	HP:0100543	Cognitive impairment
ORPHANET:791	CRB1	23418	HP:0100689	Decreased corneal thickness
ORPHANET:791	CRB1	23418	HP:0005978	Type II diabetes mellitus
ORPHANET:791	CRB1	23418	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	CRB1	23418	HP:0000518	Cataract
ORPHANET:791	CRB1	23418	HP:0000987	Atypical scarring of skin
ORPHANET:791	CRB1	23418	HP:0000512	Abnormal electroretinogram
ORPHANET:791	CRB1	23418	HP:0000405	Conductive hearing impairment
ORPHANET:791	CRB1	23418	HP:0000501	Glaucoma
ORPHANET:791	CRB1	23418	HP:0001513	Obesity
ORPHANET:791	CRB1	23418	HP:0000035	Abnormality of the testis
ORPHANET:791	CRB1	23418	HP:0000505	Visual impairment
ORPHANET:791	CRB1	23418	HP:0000648	Optic atrophy
ORPHANET:791	CRB1	23418	HP:0000613	Photophobia
ORPHANET:791	CRB1	23418	HP:0008736	Hypoplasia of penis
ORPHANET:791	CRB1	23418	HP:0001347	Hyperreflexia
ORPHANET:791	CRB1	23418	HP:0000842	Hyperinsulinemia
ORPHANET:791	IMPG2	50939	HP:0000431	Wide nasal bridge
ORPHANET:791	IMPG2	50939	HP:0000597	Ophthalmoparesis
ORPHANET:791	IMPG2	50939	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	IMPG2	50939	HP:0000639	Nystagmus
ORPHANET:791	IMPG2	50939	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	IMPG2	50939	HP:0000463	Anteverted nares
ORPHANET:791	IMPG2	50939	HP:0000662	Nyctalopia
ORPHANET:791	IMPG2	50939	HP:0100543	Cognitive impairment
ORPHANET:791	IMPG2	50939	HP:0100689	Decreased corneal thickness
ORPHANET:791	IMPG2	50939	HP:0005978	Type II diabetes mellitus
ORPHANET:791	IMPG2	50939	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	IMPG2	50939	HP:0000518	Cataract
ORPHANET:791	IMPG2	50939	HP:0000987	Atypical scarring of skin
ORPHANET:791	IMPG2	50939	HP:0000512	Abnormal electroretinogram
ORPHANET:791	IMPG2	50939	HP:0000405	Conductive hearing impairment
ORPHANET:791	IMPG2	50939	HP:0000501	Glaucoma
ORPHANET:791	IMPG2	50939	HP:0001513	Obesity
ORPHANET:791	IMPG2	50939	HP:0000035	Abnormality of the testis
ORPHANET:791	IMPG2	50939	HP:0000505	Visual impairment
ORPHANET:791	IMPG2	50939	HP:0000648	Optic atrophy
ORPHANET:791	IMPG2	50939	HP:0000613	Photophobia
ORPHANET:791	IMPG2	50939	HP:0008736	Hypoplasia of penis
ORPHANET:791	IMPG2	50939	HP:0001347	Hyperreflexia
ORPHANET:791	IMPG2	50939	HP:0000842	Hyperinsulinemia
ORPHANET:791	ZNF513	130557	HP:0000431	Wide nasal bridge
ORPHANET:791	ZNF513	130557	HP:0000597	Ophthalmoparesis
ORPHANET:791	ZNF513	130557	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	ZNF513	130557	HP:0000639	Nystagmus
ORPHANET:791	ZNF513	130557	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	ZNF513	130557	HP:0000463	Anteverted nares
ORPHANET:791	ZNF513	130557	HP:0000662	Nyctalopia
ORPHANET:791	ZNF513	130557	HP:0100543	Cognitive impairment
ORPHANET:791	ZNF513	130557	HP:0100689	Decreased corneal thickness
ORPHANET:791	ZNF513	130557	HP:0005978	Type II diabetes mellitus
ORPHANET:791	ZNF513	130557	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	ZNF513	130557	HP:0000518	Cataract
ORPHANET:791	ZNF513	130557	HP:0000987	Atypical scarring of skin
ORPHANET:791	ZNF513	130557	HP:0000512	Abnormal electroretinogram
ORPHANET:791	ZNF513	130557	HP:0000405	Conductive hearing impairment
ORPHANET:791	ZNF513	130557	HP:0000501	Glaucoma
ORPHANET:791	ZNF513	130557	HP:0001513	Obesity
ORPHANET:791	ZNF513	130557	HP:0000035	Abnormality of the testis
ORPHANET:791	ZNF513	130557	HP:0000505	Visual impairment
ORPHANET:791	ZNF513	130557	HP:0000648	Optic atrophy
ORPHANET:791	ZNF513	130557	HP:0000613	Photophobia
ORPHANET:791	ZNF513	130557	HP:0008736	Hypoplasia of penis
ORPHANET:791	ZNF513	130557	HP:0001347	Hyperreflexia
ORPHANET:791	ZNF513	130557	HP:0000842	Hyperinsulinemia
ORPHANET:791	CRX	1406	HP:0000431	Wide nasal bridge
ORPHANET:791	CRX	1406	HP:0000597	Ophthalmoparesis
ORPHANET:791	CRX	1406	HP:0000407	Sensorineural hearing impairment
ORPHANET:791	CRX	1406	HP:0000639	Nystagmus
ORPHANET:791	CRX	1406	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:791	CRX	1406	HP:0000463	Anteverted nares
ORPHANET:791	CRX	1406	HP:0000662	Nyctalopia
ORPHANET:791	CRX	1406	HP:0100543	Cognitive impairment
ORPHANET:791	CRX	1406	HP:0100689	Decreased corneal thickness
ORPHANET:791	CRX	1406	HP:0005978	Type II diabetes mellitus
ORPHANET:791	CRX	1406	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:791	CRX	1406	HP:0000518	Cataract
ORPHANET:791	CRX	1406	HP:0000987	Atypical scarring of skin
ORPHANET:791	CRX	1406	HP:0000512	Abnormal electroretinogram
ORPHANET:791	CRX	1406	HP:0000405	Conductive hearing impairment
ORPHANET:791	CRX	1406	HP:0000501	Glaucoma
ORPHANET:791	CRX	1406	HP:0001513	Obesity
ORPHANET:791	CRX	1406	HP:0000035	Abnormality of the testis
ORPHANET:791	CRX	1406	HP:0000505	Visual impairment
ORPHANET:791	CRX	1406	HP:0000648	Optic atrophy
ORPHANET:791	CRX	1406	HP:0000613	Photophobia
ORPHANET:791	CRX	1406	HP:0008736	Hypoplasia of penis
ORPHANET:791	CRX	1406	HP:0001347	Hyperreflexia
ORPHANET:791	CRX	1406	HP:0000842	Hyperinsulinemia
OMIM:252010	NUBPL	80224	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NUBPL	80224	HP:0001259	Coma
OMIM:252010	NUBPL	80224	HP:0001265	Hyporeflexia
OMIM:252010	NUBPL	80224	HP:0002878	Respiratory failure
OMIM:252010	NUBPL	80224	HP:0001250	Seizures
OMIM:252010	NUBPL	80224	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NUBPL	80224	HP:0002181	Cerebral edema
OMIM:252010	NUBPL	80224	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NUBPL	80224	HP:0002490	Increased CSF lactate
OMIM:252010	NUBPL	80224	HP:0003128	Lactic acidosis
OMIM:252010	NUBPL	80224	HP:0000508	Ptosis
OMIM:252010	NUBPL	80224	HP:0001324	Muscle weakness
OMIM:252010	NUBPL	80224	HP:0001943	Hypoglycemia
OMIM:252010	NUBPL	80224	HP:0002013	Vomiting
OMIM:252010	NUBPL	80224	HP:0003812	Phenotypic variability
OMIM:252010	NUBPL	80224	HP:0001427	Mitochondrial inheritance
OMIM:252010	NUBPL	80224	HP:0002415	Leukodystrophy
OMIM:252010	NUBPL	80224	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NUBPL	80224	HP:0001251	Ataxia
OMIM:252010	NUBPL	80224	HP:0003546	Exercise intolerance
OMIM:252010	NUBPL	80224	HP:0001508	Failure to thrive
OMIM:252010	NUBPL	80224	HP:0004481	Progressive macrocephaly
OMIM:252010	NUBPL	80224	HP:0001399	Hepatic failure
OMIM:252010	NUBPL	80224	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NUBPL	80224	HP:0001257	Spasticity
OMIM:252010	NUBPL	80224	HP:0002376	Developmental regression
OMIM:252010	NUBPL	80224	HP:0000486	Strabismus
OMIM:252010	NUBPL	80224	HP:0000639	Nystagmus
OMIM:252010	NUBPL	80224	HP:0003487	Babinski sign
OMIM:252010	NUBPL	80224	HP:0001272	Cerebellar atrophy
OMIM:252010	NUBPL	80224	HP:0001347	Hyperreflexia
OMIM:252010	NUBPL	80224	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NUBPL	80224	HP:0001252	Muscular hypotonia
OMIM:252010	NUBPL	80224	HP:0001254	Lethargy
OMIM:252010	NUBPL	80224	HP:0000543	Optic disc pallor
OMIM:252010	NUBPL	80224	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NUBPL	80224	HP:0000618	Blindness
OMIM:252010	NUBPL	80224	HP:0001423	X-linked dominant inheritance
OMIM:252010	NUBPL	80224	HP:0001263	Global developmental delay
OMIM:252010	NUBPL	80224	HP:0001510	Growth delay
OMIM:252010	NDUFB3	4709	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFB3	4709	HP:0001259	Coma
OMIM:252010	NDUFB3	4709	HP:0001265	Hyporeflexia
OMIM:252010	NDUFB3	4709	HP:0002878	Respiratory failure
OMIM:252010	NDUFB3	4709	HP:0001250	Seizures
OMIM:252010	NDUFB3	4709	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFB3	4709	HP:0002181	Cerebral edema
OMIM:252010	NDUFB3	4709	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFB3	4709	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFB3	4709	HP:0003128	Lactic acidosis
OMIM:252010	NDUFB3	4709	HP:0000508	Ptosis
OMIM:252010	NDUFB3	4709	HP:0001324	Muscle weakness
OMIM:252010	NDUFB3	4709	HP:0001943	Hypoglycemia
OMIM:252010	NDUFB3	4709	HP:0002013	Vomiting
OMIM:252010	NDUFB3	4709	HP:0003812	Phenotypic variability
OMIM:252010	NDUFB3	4709	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFB3	4709	HP:0002415	Leukodystrophy
OMIM:252010	NDUFB3	4709	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFB3	4709	HP:0001251	Ataxia
OMIM:252010	NDUFB3	4709	HP:0003546	Exercise intolerance
OMIM:252010	NDUFB3	4709	HP:0001508	Failure to thrive
OMIM:252010	NDUFB3	4709	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFB3	4709	HP:0001399	Hepatic failure
OMIM:252010	NDUFB3	4709	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFB3	4709	HP:0001257	Spasticity
OMIM:252010	NDUFB3	4709	HP:0002376	Developmental regression
OMIM:252010	NDUFB3	4709	HP:0000486	Strabismus
OMIM:252010	NDUFB3	4709	HP:0000639	Nystagmus
OMIM:252010	NDUFB3	4709	HP:0003487	Babinski sign
OMIM:252010	NDUFB3	4709	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFB3	4709	HP:0001347	Hyperreflexia
OMIM:252010	NDUFB3	4709	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFB3	4709	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFB3	4709	HP:0001254	Lethargy
OMIM:252010	NDUFB3	4709	HP:0000543	Optic disc pallor
OMIM:252010	NDUFB3	4709	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFB3	4709	HP:0000618	Blindness
OMIM:252010	NDUFB3	4709	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFB3	4709	HP:0001263	Global developmental delay
OMIM:252010	NDUFB3	4709	HP:0001510	Growth delay
OMIM:252010	NDUFAF2	91942	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFAF2	91942	HP:0001259	Coma
OMIM:252010	NDUFAF2	91942	HP:0001265	Hyporeflexia
OMIM:252010	NDUFAF2	91942	HP:0002878	Respiratory failure
OMIM:252010	NDUFAF2	91942	HP:0001250	Seizures
OMIM:252010	NDUFAF2	91942	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFAF2	91942	HP:0002181	Cerebral edema
OMIM:252010	NDUFAF2	91942	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFAF2	91942	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFAF2	91942	HP:0003128	Lactic acidosis
OMIM:252010	NDUFAF2	91942	HP:0000508	Ptosis
OMIM:252010	NDUFAF2	91942	HP:0001324	Muscle weakness
OMIM:252010	NDUFAF2	91942	HP:0001943	Hypoglycemia
OMIM:252010	NDUFAF2	91942	HP:0002013	Vomiting
OMIM:252010	NDUFAF2	91942	HP:0003812	Phenotypic variability
OMIM:252010	NDUFAF2	91942	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFAF2	91942	HP:0002415	Leukodystrophy
OMIM:252010	NDUFAF2	91942	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFAF2	91942	HP:0001251	Ataxia
OMIM:252010	NDUFAF2	91942	HP:0003546	Exercise intolerance
OMIM:252010	NDUFAF2	91942	HP:0001508	Failure to thrive
OMIM:252010	NDUFAF2	91942	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFAF2	91942	HP:0001399	Hepatic failure
OMIM:252010	NDUFAF2	91942	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFAF2	91942	HP:0001257	Spasticity
OMIM:252010	NDUFAF2	91942	HP:0002376	Developmental regression
OMIM:252010	NDUFAF2	91942	HP:0000486	Strabismus
OMIM:252010	NDUFAF2	91942	HP:0000639	Nystagmus
OMIM:252010	NDUFAF2	91942	HP:0003487	Babinski sign
OMIM:252010	NDUFAF2	91942	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFAF2	91942	HP:0001347	Hyperreflexia
OMIM:252010	NDUFAF2	91942	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFAF2	91942	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFAF2	91942	HP:0001254	Lethargy
OMIM:252010	NDUFAF2	91942	HP:0000543	Optic disc pallor
OMIM:252010	NDUFAF2	91942	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFAF2	91942	HP:0000618	Blindness
OMIM:252010	NDUFAF2	91942	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFAF2	91942	HP:0001263	Global developmental delay
OMIM:252010	NDUFAF2	91942	HP:0001510	Growth delay
OMIM:252010	NDUFB9	4715	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFB9	4715	HP:0001259	Coma
OMIM:252010	NDUFB9	4715	HP:0001265	Hyporeflexia
OMIM:252010	NDUFB9	4715	HP:0002878	Respiratory failure
OMIM:252010	NDUFB9	4715	HP:0001250	Seizures
OMIM:252010	NDUFB9	4715	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFB9	4715	HP:0002181	Cerebral edema
OMIM:252010	NDUFB9	4715	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFB9	4715	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFB9	4715	HP:0003128	Lactic acidosis
OMIM:252010	NDUFB9	4715	HP:0000508	Ptosis
OMIM:252010	NDUFB9	4715	HP:0001324	Muscle weakness
OMIM:252010	NDUFB9	4715	HP:0001943	Hypoglycemia
OMIM:252010	NDUFB9	4715	HP:0002013	Vomiting
OMIM:252010	NDUFB9	4715	HP:0003812	Phenotypic variability
OMIM:252010	NDUFB9	4715	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFB9	4715	HP:0002415	Leukodystrophy
OMIM:252010	NDUFB9	4715	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFB9	4715	HP:0001251	Ataxia
OMIM:252010	NDUFB9	4715	HP:0003546	Exercise intolerance
OMIM:252010	NDUFB9	4715	HP:0001508	Failure to thrive
OMIM:252010	NDUFB9	4715	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFB9	4715	HP:0001399	Hepatic failure
OMIM:252010	NDUFB9	4715	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFB9	4715	HP:0001257	Spasticity
OMIM:252010	NDUFB9	4715	HP:0002376	Developmental regression
OMIM:252010	NDUFB9	4715	HP:0000486	Strabismus
OMIM:252010	NDUFB9	4715	HP:0000639	Nystagmus
OMIM:252010	NDUFB9	4715	HP:0003487	Babinski sign
OMIM:252010	NDUFB9	4715	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFB9	4715	HP:0001347	Hyperreflexia
OMIM:252010	NDUFB9	4715	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFB9	4715	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFB9	4715	HP:0001254	Lethargy
OMIM:252010	NDUFB9	4715	HP:0000543	Optic disc pallor
OMIM:252010	NDUFB9	4715	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFB9	4715	HP:0000618	Blindness
OMIM:252010	NDUFB9	4715	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFB9	4715	HP:0001263	Global developmental delay
OMIM:252010	NDUFB9	4715	HP:0001510	Growth delay
OMIM:252010	NDUFS1	4719	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS1	4719	HP:0001259	Coma
OMIM:252010	NDUFS1	4719	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS1	4719	HP:0002878	Respiratory failure
OMIM:252010	NDUFS1	4719	HP:0001250	Seizures
OMIM:252010	NDUFS1	4719	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS1	4719	HP:0002181	Cerebral edema
OMIM:252010	NDUFS1	4719	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS1	4719	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS1	4719	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS1	4719	HP:0000508	Ptosis
OMIM:252010	NDUFS1	4719	HP:0001324	Muscle weakness
OMIM:252010	NDUFS1	4719	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS1	4719	HP:0002013	Vomiting
OMIM:252010	NDUFS1	4719	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS1	4719	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS1	4719	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS1	4719	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS1	4719	HP:0001251	Ataxia
OMIM:252010	NDUFS1	4719	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS1	4719	HP:0001508	Failure to thrive
OMIM:252010	NDUFS1	4719	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS1	4719	HP:0001399	Hepatic failure
OMIM:252010	NDUFS1	4719	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS1	4719	HP:0001257	Spasticity
OMIM:252010	NDUFS1	4719	HP:0002376	Developmental regression
OMIM:252010	NDUFS1	4719	HP:0000486	Strabismus
OMIM:252010	NDUFS1	4719	HP:0000639	Nystagmus
OMIM:252010	NDUFS1	4719	HP:0003487	Babinski sign
OMIM:252010	NDUFS1	4719	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS1	4719	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS1	4719	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS1	4719	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFS1	4719	HP:0001254	Lethargy
OMIM:252010	NDUFS1	4719	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS1	4719	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS1	4719	HP:0000618	Blindness
OMIM:252010	NDUFS1	4719	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS1	4719	HP:0001263	Global developmental delay
OMIM:252010	NDUFS1	4719	HP:0001510	Growth delay
OMIM:252010	NDUFS2	4720	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS2	4720	HP:0001259	Coma
OMIM:252010	NDUFS2	4720	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS2	4720	HP:0002878	Respiratory failure
OMIM:252010	NDUFS2	4720	HP:0001250	Seizures
OMIM:252010	NDUFS2	4720	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS2	4720	HP:0002181	Cerebral edema
OMIM:252010	NDUFS2	4720	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS2	4720	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS2	4720	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS2	4720	HP:0000508	Ptosis
OMIM:252010	NDUFS2	4720	HP:0001324	Muscle weakness
OMIM:252010	NDUFS2	4720	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS2	4720	HP:0002013	Vomiting
OMIM:252010	NDUFS2	4720	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS2	4720	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS2	4720	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS2	4720	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS2	4720	HP:0001251	Ataxia
OMIM:252010	NDUFS2	4720	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS2	4720	HP:0001508	Failure to thrive
OMIM:252010	NDUFS2	4720	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS2	4720	HP:0001399	Hepatic failure
OMIM:252010	NDUFS2	4720	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS2	4720	HP:0001257	Spasticity
OMIM:252010	NDUFS2	4720	HP:0002376	Developmental regression
OMIM:252010	NDUFS2	4720	HP:0000486	Strabismus
OMIM:252010	NDUFS2	4720	HP:0000639	Nystagmus
OMIM:252010	NDUFS2	4720	HP:0003487	Babinski sign
OMIM:252010	NDUFS2	4720	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS2	4720	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS2	4720	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS2	4720	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFS2	4720	HP:0001254	Lethargy
OMIM:252010	NDUFS2	4720	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS2	4720	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS2	4720	HP:0000618	Blindness
OMIM:252010	NDUFS2	4720	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS2	4720	HP:0001263	Global developmental delay
OMIM:252010	NDUFS2	4720	HP:0001510	Growth delay
OMIM:252010	NDUFS3	4722	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS3	4722	HP:0001259	Coma
OMIM:252010	NDUFS3	4722	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS3	4722	HP:0002878	Respiratory failure
OMIM:252010	NDUFS3	4722	HP:0001250	Seizures
OMIM:252010	NDUFS3	4722	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS3	4722	HP:0002181	Cerebral edema
OMIM:252010	NDUFS3	4722	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS3	4722	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS3	4722	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS3	4722	HP:0000508	Ptosis
OMIM:252010	NDUFS3	4722	HP:0001324	Muscle weakness
OMIM:252010	NDUFS3	4722	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS3	4722	HP:0002013	Vomiting
OMIM:252010	NDUFS3	4722	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS3	4722	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS3	4722	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS3	4722	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS3	4722	HP:0001251	Ataxia
OMIM:252010	NDUFS3	4722	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS3	4722	HP:0001508	Failure to thrive
OMIM:252010	NDUFS3	4722	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS3	4722	HP:0001399	Hepatic failure
OMIM:252010	NDUFS3	4722	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS3	4722	HP:0001257	Spasticity
OMIM:252010	NDUFS3	4722	HP:0002376	Developmental regression
OMIM:252010	NDUFS3	4722	HP:0000486	Strabismus
OMIM:252010	NDUFS3	4722	HP:0000639	Nystagmus
OMIM:252010	NDUFS3	4722	HP:0003487	Babinski sign
OMIM:252010	NDUFS3	4722	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS3	4722	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS3	4722	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS3	4722	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFS3	4722	HP:0001254	Lethargy
OMIM:252010	NDUFS3	4722	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS3	4722	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS3	4722	HP:0000618	Blindness
OMIM:252010	NDUFS3	4722	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS3	4722	HP:0001263	Global developmental delay
OMIM:252010	NDUFS3	4722	HP:0001510	Growth delay
OMIM:252010	NDUFV1	4723	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFV1	4723	HP:0001259	Coma
OMIM:252010	NDUFV1	4723	HP:0001265	Hyporeflexia
OMIM:252010	NDUFV1	4723	HP:0002878	Respiratory failure
OMIM:252010	NDUFV1	4723	HP:0001250	Seizures
OMIM:252010	NDUFV1	4723	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFV1	4723	HP:0002181	Cerebral edema
OMIM:252010	NDUFV1	4723	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFV1	4723	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFV1	4723	HP:0003128	Lactic acidosis
OMIM:252010	NDUFV1	4723	HP:0000508	Ptosis
OMIM:252010	NDUFV1	4723	HP:0001324	Muscle weakness
OMIM:252010	NDUFV1	4723	HP:0001943	Hypoglycemia
OMIM:252010	NDUFV1	4723	HP:0002013	Vomiting
OMIM:252010	NDUFV1	4723	HP:0003812	Phenotypic variability
OMIM:252010	NDUFV1	4723	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFV1	4723	HP:0002415	Leukodystrophy
OMIM:252010	NDUFV1	4723	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFV1	4723	HP:0001251	Ataxia
OMIM:252010	NDUFV1	4723	HP:0003546	Exercise intolerance
OMIM:252010	NDUFV1	4723	HP:0001508	Failure to thrive
OMIM:252010	NDUFV1	4723	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFV1	4723	HP:0001399	Hepatic failure
OMIM:252010	NDUFV1	4723	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFV1	4723	HP:0001257	Spasticity
OMIM:252010	NDUFV1	4723	HP:0002376	Developmental regression
OMIM:252010	NDUFV1	4723	HP:0000486	Strabismus
OMIM:252010	NDUFV1	4723	HP:0000639	Nystagmus
OMIM:252010	NDUFV1	4723	HP:0003487	Babinski sign
OMIM:252010	NDUFV1	4723	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFV1	4723	HP:0001347	Hyperreflexia
OMIM:252010	NDUFV1	4723	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFV1	4723	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFV1	4723	HP:0001254	Lethargy
OMIM:252010	NDUFV1	4723	HP:0000543	Optic disc pallor
OMIM:252010	NDUFV1	4723	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFV1	4723	HP:0000618	Blindness
OMIM:252010	NDUFV1	4723	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFV1	4723	HP:0001263	Global developmental delay
OMIM:252010	NDUFV1	4723	HP:0001510	Growth delay
OMIM:252010	NDUFS4	4724	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS4	4724	HP:0001259	Coma
OMIM:252010	NDUFS4	4724	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS4	4724	HP:0002878	Respiratory failure
OMIM:252010	NDUFS4	4724	HP:0001250	Seizures
OMIM:252010	NDUFS4	4724	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS4	4724	HP:0002181	Cerebral edema
OMIM:252010	NDUFS4	4724	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS4	4724	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS4	4724	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS4	4724	HP:0000508	Ptosis
OMIM:252010	NDUFS4	4724	HP:0001324	Muscle weakness
OMIM:252010	NDUFS4	4724	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS4	4724	HP:0002013	Vomiting
OMIM:252010	NDUFS4	4724	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS4	4724	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS4	4724	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS4	4724	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS4	4724	HP:0001251	Ataxia
OMIM:252010	NDUFS4	4724	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS4	4724	HP:0001508	Failure to thrive
OMIM:252010	NDUFS4	4724	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS4	4724	HP:0001399	Hepatic failure
OMIM:252010	NDUFS4	4724	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS4	4724	HP:0001257	Spasticity
OMIM:252010	NDUFS4	4724	HP:0002376	Developmental regression
OMIM:252010	NDUFS4	4724	HP:0000486	Strabismus
OMIM:252010	NDUFS4	4724	HP:0000639	Nystagmus
OMIM:252010	NDUFS4	4724	HP:0003487	Babinski sign
OMIM:252010	NDUFS4	4724	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS4	4724	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS4	4724	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS4	4724	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFS4	4724	HP:0001254	Lethargy
OMIM:252010	NDUFS4	4724	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS4	4724	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS4	4724	HP:0000618	Blindness
OMIM:252010	NDUFS4	4724	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS4	4724	HP:0001263	Global developmental delay
OMIM:252010	NDUFS4	4724	HP:0001510	Growth delay
OMIM:252010	FOXRED1	55572	HP:0008872	Feeding difficulties in infancy
OMIM:252010	FOXRED1	55572	HP:0001259	Coma
OMIM:252010	FOXRED1	55572	HP:0001265	Hyporeflexia
OMIM:252010	FOXRED1	55572	HP:0002878	Respiratory failure
OMIM:252010	FOXRED1	55572	HP:0001250	Seizures
OMIM:252010	FOXRED1	55572	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	FOXRED1	55572	HP:0002181	Cerebral edema
OMIM:252010	FOXRED1	55572	HP:0003202	Skeletal muscle atrophy
OMIM:252010	FOXRED1	55572	HP:0002490	Increased CSF lactate
OMIM:252010	FOXRED1	55572	HP:0003128	Lactic acidosis
OMIM:252010	FOXRED1	55572	HP:0000508	Ptosis
OMIM:252010	FOXRED1	55572	HP:0001324	Muscle weakness
OMIM:252010	FOXRED1	55572	HP:0001943	Hypoglycemia
OMIM:252010	FOXRED1	55572	HP:0002013	Vomiting
OMIM:252010	FOXRED1	55572	HP:0003812	Phenotypic variability
OMIM:252010	FOXRED1	55572	HP:0001427	Mitochondrial inheritance
OMIM:252010	FOXRED1	55572	HP:0002415	Leukodystrophy
OMIM:252010	FOXRED1	55572	HP:0000007	Autosomal recessive inheritance
OMIM:252010	FOXRED1	55572	HP:0001251	Ataxia
OMIM:252010	FOXRED1	55572	HP:0003546	Exercise intolerance
OMIM:252010	FOXRED1	55572	HP:0001508	Failure to thrive
OMIM:252010	FOXRED1	55572	HP:0004481	Progressive macrocephaly
OMIM:252010	FOXRED1	55572	HP:0001399	Hepatic failure
OMIM:252010	FOXRED1	55572	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	FOXRED1	55572	HP:0001257	Spasticity
OMIM:252010	FOXRED1	55572	HP:0002376	Developmental regression
OMIM:252010	FOXRED1	55572	HP:0000486	Strabismus
OMIM:252010	FOXRED1	55572	HP:0000639	Nystagmus
OMIM:252010	FOXRED1	55572	HP:0003487	Babinski sign
OMIM:252010	FOXRED1	55572	HP:0001272	Cerebellar atrophy
OMIM:252010	FOXRED1	55572	HP:0001347	Hyperreflexia
OMIM:252010	FOXRED1	55572	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	FOXRED1	55572	HP:0001252	Muscular hypotonia
OMIM:252010	FOXRED1	55572	HP:0001254	Lethargy
OMIM:252010	FOXRED1	55572	HP:0000543	Optic disc pallor
OMIM:252010	FOXRED1	55572	HP:0000407	Sensorineural hearing impairment
OMIM:252010	FOXRED1	55572	HP:0000618	Blindness
OMIM:252010	FOXRED1	55572	HP:0001423	X-linked dominant inheritance
OMIM:252010	FOXRED1	55572	HP:0001263	Global developmental delay
OMIM:252010	FOXRED1	55572	HP:0001510	Growth delay
OMIM:252010	NDUFS6	4726	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS6	4726	HP:0001259	Coma
OMIM:252010	NDUFS6	4726	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS6	4726	HP:0002878	Respiratory failure
OMIM:252010	NDUFS6	4726	HP:0001250	Seizures
OMIM:252010	NDUFS6	4726	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS6	4726	HP:0002181	Cerebral edema
OMIM:252010	NDUFS6	4726	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS6	4726	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS6	4726	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS6	4726	HP:0000508	Ptosis
OMIM:252010	NDUFS6	4726	HP:0001324	Muscle weakness
OMIM:252010	NDUFS6	4726	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS6	4726	HP:0002013	Vomiting
OMIM:252010	NDUFS6	4726	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS6	4726	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS6	4726	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS6	4726	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS6	4726	HP:0001251	Ataxia
OMIM:252010	NDUFS6	4726	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS6	4726	HP:0001508	Failure to thrive
OMIM:252010	NDUFS6	4726	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS6	4726	HP:0001399	Hepatic failure
OMIM:252010	NDUFS6	4726	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS6	4726	HP:0001257	Spasticity
OMIM:252010	NDUFS6	4726	HP:0002376	Developmental regression
OMIM:252010	NDUFS6	4726	HP:0000486	Strabismus
OMIM:252010	NDUFS6	4726	HP:0000639	Nystagmus
OMIM:252010	NDUFS6	4726	HP:0003487	Babinski sign
OMIM:252010	NDUFS6	4726	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS6	4726	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS6	4726	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS6	4726	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFS6	4726	HP:0001254	Lethargy
OMIM:252010	NDUFS6	4726	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS6	4726	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS6	4726	HP:0000618	Blindness
OMIM:252010	NDUFS6	4726	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS6	4726	HP:0001263	Global developmental delay
OMIM:252010	NDUFS6	4726	HP:0001510	Growth delay
OMIM:252010	NDUFAF4	29078	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFAF4	29078	HP:0001259	Coma
OMIM:252010	NDUFAF4	29078	HP:0001265	Hyporeflexia
OMIM:252010	NDUFAF4	29078	HP:0002878	Respiratory failure
OMIM:252010	NDUFAF4	29078	HP:0001250	Seizures
OMIM:252010	NDUFAF4	29078	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFAF4	29078	HP:0002181	Cerebral edema
OMIM:252010	NDUFAF4	29078	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFAF4	29078	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFAF4	29078	HP:0003128	Lactic acidosis
OMIM:252010	NDUFAF4	29078	HP:0000508	Ptosis
OMIM:252010	NDUFAF4	29078	HP:0001324	Muscle weakness
OMIM:252010	NDUFAF4	29078	HP:0001943	Hypoglycemia
OMIM:252010	NDUFAF4	29078	HP:0002013	Vomiting
OMIM:252010	NDUFAF4	29078	HP:0003812	Phenotypic variability
OMIM:252010	NDUFAF4	29078	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFAF4	29078	HP:0002415	Leukodystrophy
OMIM:252010	NDUFAF4	29078	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFAF4	29078	HP:0001251	Ataxia
OMIM:252010	NDUFAF4	29078	HP:0003546	Exercise intolerance
OMIM:252010	NDUFAF4	29078	HP:0001508	Failure to thrive
OMIM:252010	NDUFAF4	29078	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFAF4	29078	HP:0001399	Hepatic failure
OMIM:252010	NDUFAF4	29078	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFAF4	29078	HP:0001257	Spasticity
OMIM:252010	NDUFAF4	29078	HP:0002376	Developmental regression
OMIM:252010	NDUFAF4	29078	HP:0000486	Strabismus
OMIM:252010	NDUFAF4	29078	HP:0000639	Nystagmus
OMIM:252010	NDUFAF4	29078	HP:0003487	Babinski sign
OMIM:252010	NDUFAF4	29078	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFAF4	29078	HP:0001347	Hyperreflexia
OMIM:252010	NDUFAF4	29078	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFAF4	29078	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFAF4	29078	HP:0001254	Lethargy
OMIM:252010	NDUFAF4	29078	HP:0000543	Optic disc pallor
OMIM:252010	NDUFAF4	29078	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFAF4	29078	HP:0000618	Blindness
OMIM:252010	NDUFAF4	29078	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFAF4	29078	HP:0001263	Global developmental delay
OMIM:252010	NDUFAF4	29078	HP:0001510	Growth delay
OMIM:252010	NDUFA1	4694	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFA1	4694	HP:0001259	Coma
OMIM:252010	NDUFA1	4694	HP:0001265	Hyporeflexia
OMIM:252010	NDUFA1	4694	HP:0002878	Respiratory failure
OMIM:252010	NDUFA1	4694	HP:0001250	Seizures
OMIM:252010	NDUFA1	4694	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFA1	4694	HP:0002181	Cerebral edema
OMIM:252010	NDUFA1	4694	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFA1	4694	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFA1	4694	HP:0003128	Lactic acidosis
OMIM:252010	NDUFA1	4694	HP:0000508	Ptosis
OMIM:252010	NDUFA1	4694	HP:0001324	Muscle weakness
OMIM:252010	NDUFA1	4694	HP:0001943	Hypoglycemia
OMIM:252010	NDUFA1	4694	HP:0002013	Vomiting
OMIM:252010	NDUFA1	4694	HP:0003812	Phenotypic variability
OMIM:252010	NDUFA1	4694	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFA1	4694	HP:0002415	Leukodystrophy
OMIM:252010	NDUFA1	4694	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFA1	4694	HP:0001251	Ataxia
OMIM:252010	NDUFA1	4694	HP:0003546	Exercise intolerance
OMIM:252010	NDUFA1	4694	HP:0001508	Failure to thrive
OMIM:252010	NDUFA1	4694	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFA1	4694	HP:0001399	Hepatic failure
OMIM:252010	NDUFA1	4694	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFA1	4694	HP:0001257	Spasticity
OMIM:252010	NDUFA1	4694	HP:0002376	Developmental regression
OMIM:252010	NDUFA1	4694	HP:0000486	Strabismus
OMIM:252010	NDUFA1	4694	HP:0000639	Nystagmus
OMIM:252010	NDUFA1	4694	HP:0003487	Babinski sign
OMIM:252010	NDUFA1	4694	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFA1	4694	HP:0001347	Hyperreflexia
OMIM:252010	NDUFA1	4694	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFA1	4694	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFA1	4694	HP:0001254	Lethargy
OMIM:252010	NDUFA1	4694	HP:0000543	Optic disc pallor
OMIM:252010	NDUFA1	4694	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFA1	4694	HP:0000618	Blindness
OMIM:252010	NDUFA1	4694	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFA1	4694	HP:0001263	Global developmental delay
OMIM:252010	NDUFA1	4694	HP:0001510	Growth delay
OMIM:252010	NDUFS7	374291	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS7	374291	HP:0001259	Coma
OMIM:252010	NDUFS7	374291	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS7	374291	HP:0002878	Respiratory failure
OMIM:252010	NDUFS7	374291	HP:0001250	Seizures
OMIM:252010	NDUFS7	374291	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS7	374291	HP:0002181	Cerebral edema
OMIM:252010	NDUFS7	374291	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS7	374291	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS7	374291	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS7	374291	HP:0000508	Ptosis
OMIM:252010	NDUFS7	374291	HP:0001324	Muscle weakness
OMIM:252010	NDUFS7	374291	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS7	374291	HP:0002013	Vomiting
OMIM:252010	NDUFS7	374291	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS7	374291	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS7	374291	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS7	374291	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS7	374291	HP:0001251	Ataxia
OMIM:252010	NDUFS7	374291	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS7	374291	HP:0001508	Failure to thrive
OMIM:252010	NDUFS7	374291	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS7	374291	HP:0001399	Hepatic failure
OMIM:252010	NDUFS7	374291	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS7	374291	HP:0001257	Spasticity
OMIM:252010	NDUFS7	374291	HP:0002376	Developmental regression
OMIM:252010	NDUFS7	374291	HP:0000486	Strabismus
OMIM:252010	NDUFS7	374291	HP:0000639	Nystagmus
OMIM:252010	NDUFS7	374291	HP:0003487	Babinski sign
OMIM:252010	NDUFS7	374291	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS7	374291	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS7	374291	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS7	374291	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFS7	374291	HP:0001254	Lethargy
OMIM:252010	NDUFS7	374291	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS7	374291	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS7	374291	HP:0000618	Blindness
OMIM:252010	NDUFS7	374291	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS7	374291	HP:0001263	Global developmental delay
OMIM:252010	NDUFS7	374291	HP:0001510	Growth delay
OMIM:252010	ND1	4535	HP:0008872	Feeding difficulties in infancy
OMIM:252010	ND1	4535	HP:0001259	Coma
OMIM:252010	ND1	4535	HP:0001265	Hyporeflexia
OMIM:252010	ND1	4535	HP:0002878	Respiratory failure
OMIM:252010	ND1	4535	HP:0001250	Seizures
OMIM:252010	ND1	4535	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	ND1	4535	HP:0002181	Cerebral edema
OMIM:252010	ND1	4535	HP:0003202	Skeletal muscle atrophy
OMIM:252010	ND1	4535	HP:0002490	Increased CSF lactate
OMIM:252010	ND1	4535	HP:0003128	Lactic acidosis
OMIM:252010	ND1	4535	HP:0000508	Ptosis
OMIM:252010	ND1	4535	HP:0001324	Muscle weakness
OMIM:252010	ND1	4535	HP:0001943	Hypoglycemia
OMIM:252010	ND1	4535	HP:0002013	Vomiting
OMIM:252010	ND1	4535	HP:0003812	Phenotypic variability
OMIM:252010	ND1	4535	HP:0001427	Mitochondrial inheritance
OMIM:252010	ND1	4535	HP:0002415	Leukodystrophy
OMIM:252010	ND1	4535	HP:0000007	Autosomal recessive inheritance
OMIM:252010	ND1	4535	HP:0001251	Ataxia
OMIM:252010	ND1	4535	HP:0003546	Exercise intolerance
OMIM:252010	ND1	4535	HP:0001508	Failure to thrive
OMIM:252010	ND1	4535	HP:0004481	Progressive macrocephaly
OMIM:252010	ND1	4535	HP:0001399	Hepatic failure
OMIM:252010	ND1	4535	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	ND1	4535	HP:0001257	Spasticity
OMIM:252010	ND1	4535	HP:0002376	Developmental regression
OMIM:252010	ND1	4535	HP:0000486	Strabismus
OMIM:252010	ND1	4535	HP:0000639	Nystagmus
OMIM:252010	ND1	4535	HP:0003487	Babinski sign
OMIM:252010	ND1	4535	HP:0001272	Cerebellar atrophy
OMIM:252010	ND1	4535	HP:0001347	Hyperreflexia
OMIM:252010	ND1	4535	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	ND1	4535	HP:0001252	Muscular hypotonia
OMIM:252010	ND1	4535	HP:0001254	Lethargy
OMIM:252010	ND1	4535	HP:0000543	Optic disc pallor
OMIM:252010	ND1	4535	HP:0000407	Sensorineural hearing impairment
OMIM:252010	ND1	4535	HP:0000618	Blindness
OMIM:252010	ND1	4535	HP:0001423	X-linked dominant inheritance
OMIM:252010	ND1	4535	HP:0001263	Global developmental delay
OMIM:252010	ND1	4535	HP:0001510	Growth delay
OMIM:252010	ND2	4536	HP:0008872	Feeding difficulties in infancy
OMIM:252010	ND2	4536	HP:0001259	Coma
OMIM:252010	ND2	4536	HP:0001265	Hyporeflexia
OMIM:252010	ND2	4536	HP:0002878	Respiratory failure
OMIM:252010	ND2	4536	HP:0001250	Seizures
OMIM:252010	ND2	4536	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	ND2	4536	HP:0002181	Cerebral edema
OMIM:252010	ND2	4536	HP:0003202	Skeletal muscle atrophy
OMIM:252010	ND2	4536	HP:0002490	Increased CSF lactate
OMIM:252010	ND2	4536	HP:0003128	Lactic acidosis
OMIM:252010	ND2	4536	HP:0000508	Ptosis
OMIM:252010	ND2	4536	HP:0001324	Muscle weakness
OMIM:252010	ND2	4536	HP:0001943	Hypoglycemia
OMIM:252010	ND2	4536	HP:0002013	Vomiting
OMIM:252010	ND2	4536	HP:0003812	Phenotypic variability
OMIM:252010	ND2	4536	HP:0001427	Mitochondrial inheritance
OMIM:252010	ND2	4536	HP:0002415	Leukodystrophy
OMIM:252010	ND2	4536	HP:0000007	Autosomal recessive inheritance
OMIM:252010	ND2	4536	HP:0001251	Ataxia
OMIM:252010	ND2	4536	HP:0003546	Exercise intolerance
OMIM:252010	ND2	4536	HP:0001508	Failure to thrive
OMIM:252010	ND2	4536	HP:0004481	Progressive macrocephaly
OMIM:252010	ND2	4536	HP:0001399	Hepatic failure
OMIM:252010	ND2	4536	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	ND2	4536	HP:0001257	Spasticity
OMIM:252010	ND2	4536	HP:0002376	Developmental regression
OMIM:252010	ND2	4536	HP:0000486	Strabismus
OMIM:252010	ND2	4536	HP:0000639	Nystagmus
OMIM:252010	ND2	4536	HP:0003487	Babinski sign
OMIM:252010	ND2	4536	HP:0001272	Cerebellar atrophy
OMIM:252010	ND2	4536	HP:0001347	Hyperreflexia
OMIM:252010	ND2	4536	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	ND2	4536	HP:0001252	Muscular hypotonia
OMIM:252010	ND2	4536	HP:0001254	Lethargy
OMIM:252010	ND2	4536	HP:0000543	Optic disc pallor
OMIM:252010	ND2	4536	HP:0000407	Sensorineural hearing impairment
OMIM:252010	ND2	4536	HP:0000618	Blindness
OMIM:252010	ND2	4536	HP:0001423	X-linked dominant inheritance
OMIM:252010	ND2	4536	HP:0001263	Global developmental delay
OMIM:252010	ND2	4536	HP:0001510	Growth delay
OMIM:252010	NDUFS8	4728	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFS8	4728	HP:0001259	Coma
OMIM:252010	NDUFS8	4728	HP:0001265	Hyporeflexia
OMIM:252010	NDUFS8	4728	HP:0002878	Respiratory failure
OMIM:252010	NDUFS8	4728	HP:0001250	Seizures
OMIM:252010	NDUFS8	4728	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFS8	4728	HP:0002181	Cerebral edema
OMIM:252010	NDUFS8	4728	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFS8	4728	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFS8	4728	HP:0003128	Lactic acidosis
OMIM:252010	NDUFS8	4728	HP:0000508	Ptosis
OMIM:252010	NDUFS8	4728	HP:0001324	Muscle weakness
OMIM:252010	NDUFS8	4728	HP:0001943	Hypoglycemia
OMIM:252010	NDUFS8	4728	HP:0002013	Vomiting
OMIM:252010	NDUFS8	4728	HP:0003812	Phenotypic variability
OMIM:252010	NDUFS8	4728	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFS8	4728	HP:0002415	Leukodystrophy
OMIM:252010	NDUFS8	4728	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFS8	4728	HP:0001251	Ataxia
OMIM:252010	NDUFS8	4728	HP:0003546	Exercise intolerance
OMIM:252010	NDUFS8	4728	HP:0001508	Failure to thrive
OMIM:252010	NDUFS8	4728	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFS8	4728	HP:0001399	Hepatic failure
OMIM:252010	NDUFS8	4728	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFS8	4728	HP:0001257	Spasticity
OMIM:252010	NDUFS8	4728	HP:0002376	Developmental regression
OMIM:252010	NDUFS8	4728	HP:0000486	Strabismus
OMIM:252010	NDUFS8	4728	HP:0000639	Nystagmus
OMIM:252010	NDUFS8	4728	HP:0003487	Babinski sign
OMIM:252010	NDUFS8	4728	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFS8	4728	HP:0001347	Hyperreflexia
OMIM:252010	NDUFS8	4728	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFS8	4728	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFS8	4728	HP:0001254	Lethargy
OMIM:252010	NDUFS8	4728	HP:0000543	Optic disc pallor
OMIM:252010	NDUFS8	4728	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFS8	4728	HP:0000618	Blindness
OMIM:252010	NDUFS8	4728	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFS8	4728	HP:0001263	Global developmental delay
OMIM:252010	NDUFS8	4728	HP:0001510	Growth delay
OMIM:252010	NDUFV2	4729	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFV2	4729	HP:0001259	Coma
OMIM:252010	NDUFV2	4729	HP:0001265	Hyporeflexia
OMIM:252010	NDUFV2	4729	HP:0002878	Respiratory failure
OMIM:252010	NDUFV2	4729	HP:0001250	Seizures
OMIM:252010	NDUFV2	4729	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFV2	4729	HP:0002181	Cerebral edema
OMIM:252010	NDUFV2	4729	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFV2	4729	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFV2	4729	HP:0003128	Lactic acidosis
OMIM:252010	NDUFV2	4729	HP:0000508	Ptosis
OMIM:252010	NDUFV2	4729	HP:0001324	Muscle weakness
OMIM:252010	NDUFV2	4729	HP:0001943	Hypoglycemia
OMIM:252010	NDUFV2	4729	HP:0002013	Vomiting
OMIM:252010	NDUFV2	4729	HP:0003812	Phenotypic variability
OMIM:252010	NDUFV2	4729	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFV2	4729	HP:0002415	Leukodystrophy
OMIM:252010	NDUFV2	4729	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFV2	4729	HP:0001251	Ataxia
OMIM:252010	NDUFV2	4729	HP:0003546	Exercise intolerance
OMIM:252010	NDUFV2	4729	HP:0001508	Failure to thrive
OMIM:252010	NDUFV2	4729	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFV2	4729	HP:0001399	Hepatic failure
OMIM:252010	NDUFV2	4729	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFV2	4729	HP:0001257	Spasticity
OMIM:252010	NDUFV2	4729	HP:0002376	Developmental regression
OMIM:252010	NDUFV2	4729	HP:0000486	Strabismus
OMIM:252010	NDUFV2	4729	HP:0000639	Nystagmus
OMIM:252010	NDUFV2	4729	HP:0003487	Babinski sign
OMIM:252010	NDUFV2	4729	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFV2	4729	HP:0001347	Hyperreflexia
OMIM:252010	NDUFV2	4729	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFV2	4729	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFV2	4729	HP:0001254	Lethargy
OMIM:252010	NDUFV2	4729	HP:0000543	Optic disc pallor
OMIM:252010	NDUFV2	4729	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFV2	4729	HP:0000618	Blindness
OMIM:252010	NDUFV2	4729	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFV2	4729	HP:0001263	Global developmental delay
OMIM:252010	NDUFV2	4729	HP:0001510	Growth delay
OMIM:252010	NDUFA11	126328	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFA11	126328	HP:0001259	Coma
OMIM:252010	NDUFA11	126328	HP:0001265	Hyporeflexia
OMIM:252010	NDUFA11	126328	HP:0002878	Respiratory failure
OMIM:252010	NDUFA11	126328	HP:0001250	Seizures
OMIM:252010	NDUFA11	126328	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFA11	126328	HP:0002181	Cerebral edema
OMIM:252010	NDUFA11	126328	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFA11	126328	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFA11	126328	HP:0003128	Lactic acidosis
OMIM:252010	NDUFA11	126328	HP:0000508	Ptosis
OMIM:252010	NDUFA11	126328	HP:0001324	Muscle weakness
OMIM:252010	NDUFA11	126328	HP:0001943	Hypoglycemia
OMIM:252010	NDUFA11	126328	HP:0002013	Vomiting
OMIM:252010	NDUFA11	126328	HP:0003812	Phenotypic variability
OMIM:252010	NDUFA11	126328	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFA11	126328	HP:0002415	Leukodystrophy
OMIM:252010	NDUFA11	126328	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFA11	126328	HP:0001251	Ataxia
OMIM:252010	NDUFA11	126328	HP:0003546	Exercise intolerance
OMIM:252010	NDUFA11	126328	HP:0001508	Failure to thrive
OMIM:252010	NDUFA11	126328	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFA11	126328	HP:0001399	Hepatic failure
OMIM:252010	NDUFA11	126328	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFA11	126328	HP:0001257	Spasticity
OMIM:252010	NDUFA11	126328	HP:0002376	Developmental regression
OMIM:252010	NDUFA11	126328	HP:0000486	Strabismus
OMIM:252010	NDUFA11	126328	HP:0000639	Nystagmus
OMIM:252010	NDUFA11	126328	HP:0003487	Babinski sign
OMIM:252010	NDUFA11	126328	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFA11	126328	HP:0001347	Hyperreflexia
OMIM:252010	NDUFA11	126328	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFA11	126328	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFA11	126328	HP:0001254	Lethargy
OMIM:252010	NDUFA11	126328	HP:0000543	Optic disc pallor
OMIM:252010	NDUFA11	126328	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFA11	126328	HP:0000618	Blindness
OMIM:252010	NDUFA11	126328	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFA11	126328	HP:0001263	Global developmental delay
OMIM:252010	NDUFA11	126328	HP:0001510	Growth delay
OMIM:252010	ND3	4537	HP:0008872	Feeding difficulties in infancy
OMIM:252010	ND3	4537	HP:0001259	Coma
OMIM:252010	ND3	4537	HP:0001265	Hyporeflexia
OMIM:252010	ND3	4537	HP:0002878	Respiratory failure
OMIM:252010	ND3	4537	HP:0001250	Seizures
OMIM:252010	ND3	4537	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	ND3	4537	HP:0002181	Cerebral edema
OMIM:252010	ND3	4537	HP:0003202	Skeletal muscle atrophy
OMIM:252010	ND3	4537	HP:0002490	Increased CSF lactate
OMIM:252010	ND3	4537	HP:0003128	Lactic acidosis
OMIM:252010	ND3	4537	HP:0000508	Ptosis
OMIM:252010	ND3	4537	HP:0001324	Muscle weakness
OMIM:252010	ND3	4537	HP:0001943	Hypoglycemia
OMIM:252010	ND3	4537	HP:0002013	Vomiting
OMIM:252010	ND3	4537	HP:0003812	Phenotypic variability
OMIM:252010	ND3	4537	HP:0001427	Mitochondrial inheritance
OMIM:252010	ND3	4537	HP:0002415	Leukodystrophy
OMIM:252010	ND3	4537	HP:0000007	Autosomal recessive inheritance
OMIM:252010	ND3	4537	HP:0001251	Ataxia
OMIM:252010	ND3	4537	HP:0003546	Exercise intolerance
OMIM:252010	ND3	4537	HP:0001508	Failure to thrive
OMIM:252010	ND3	4537	HP:0004481	Progressive macrocephaly
OMIM:252010	ND3	4537	HP:0001399	Hepatic failure
OMIM:252010	ND3	4537	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	ND3	4537	HP:0001257	Spasticity
OMIM:252010	ND3	4537	HP:0002376	Developmental regression
OMIM:252010	ND3	4537	HP:0000486	Strabismus
OMIM:252010	ND3	4537	HP:0000639	Nystagmus
OMIM:252010	ND3	4537	HP:0003487	Babinski sign
OMIM:252010	ND3	4537	HP:0001272	Cerebellar atrophy
OMIM:252010	ND3	4537	HP:0001347	Hyperreflexia
OMIM:252010	ND3	4537	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	ND3	4537	HP:0001252	Muscular hypotonia
OMIM:252010	ND3	4537	HP:0001254	Lethargy
OMIM:252010	ND3	4537	HP:0000543	Optic disc pallor
OMIM:252010	ND3	4537	HP:0000407	Sensorineural hearing impairment
OMIM:252010	ND3	4537	HP:0000618	Blindness
OMIM:252010	ND3	4537	HP:0001423	X-linked dominant inheritance
OMIM:252010	ND3	4537	HP:0001263	Global developmental delay
OMIM:252010	ND3	4537	HP:0001510	Growth delay
OMIM:252010	NDUFAF3	25915	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFAF3	25915	HP:0001259	Coma
OMIM:252010	NDUFAF3	25915	HP:0001265	Hyporeflexia
OMIM:252010	NDUFAF3	25915	HP:0002878	Respiratory failure
OMIM:252010	NDUFAF3	25915	HP:0001250	Seizures
OMIM:252010	NDUFAF3	25915	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFAF3	25915	HP:0002181	Cerebral edema
OMIM:252010	NDUFAF3	25915	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFAF3	25915	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFAF3	25915	HP:0003128	Lactic acidosis
OMIM:252010	NDUFAF3	25915	HP:0000508	Ptosis
OMIM:252010	NDUFAF3	25915	HP:0001324	Muscle weakness
OMIM:252010	NDUFAF3	25915	HP:0001943	Hypoglycemia
OMIM:252010	NDUFAF3	25915	HP:0002013	Vomiting
OMIM:252010	NDUFAF3	25915	HP:0003812	Phenotypic variability
OMIM:252010	NDUFAF3	25915	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFAF3	25915	HP:0002415	Leukodystrophy
OMIM:252010	NDUFAF3	25915	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFAF3	25915	HP:0001251	Ataxia
OMIM:252010	NDUFAF3	25915	HP:0003546	Exercise intolerance
OMIM:252010	NDUFAF3	25915	HP:0001508	Failure to thrive
OMIM:252010	NDUFAF3	25915	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFAF3	25915	HP:0001399	Hepatic failure
OMIM:252010	NDUFAF3	25915	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFAF3	25915	HP:0001257	Spasticity
OMIM:252010	NDUFAF3	25915	HP:0002376	Developmental regression
OMIM:252010	NDUFAF3	25915	HP:0000486	Strabismus
OMIM:252010	NDUFAF3	25915	HP:0000639	Nystagmus
OMIM:252010	NDUFAF3	25915	HP:0003487	Babinski sign
OMIM:252010	NDUFAF3	25915	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFAF3	25915	HP:0001347	Hyperreflexia
OMIM:252010	NDUFAF3	25915	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFAF3	25915	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFAF3	25915	HP:0001254	Lethargy
OMIM:252010	NDUFAF3	25915	HP:0000543	Optic disc pallor
OMIM:252010	NDUFAF3	25915	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFAF3	25915	HP:0000618	Blindness
OMIM:252010	NDUFAF3	25915	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFAF3	25915	HP:0001263	Global developmental delay
OMIM:252010	NDUFAF3	25915	HP:0001510	Growth delay
OMIM:252010	NDUFAF5	79133	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFAF5	79133	HP:0001259	Coma
OMIM:252010	NDUFAF5	79133	HP:0001265	Hyporeflexia
OMIM:252010	NDUFAF5	79133	HP:0002878	Respiratory failure
OMIM:252010	NDUFAF5	79133	HP:0001250	Seizures
OMIM:252010	NDUFAF5	79133	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFAF5	79133	HP:0002181	Cerebral edema
OMIM:252010	NDUFAF5	79133	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFAF5	79133	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFAF5	79133	HP:0003128	Lactic acidosis
OMIM:252010	NDUFAF5	79133	HP:0000508	Ptosis
OMIM:252010	NDUFAF5	79133	HP:0001324	Muscle weakness
OMIM:252010	NDUFAF5	79133	HP:0001943	Hypoglycemia
OMIM:252010	NDUFAF5	79133	HP:0002013	Vomiting
OMIM:252010	NDUFAF5	79133	HP:0003812	Phenotypic variability
OMIM:252010	NDUFAF5	79133	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFAF5	79133	HP:0002415	Leukodystrophy
OMIM:252010	NDUFAF5	79133	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFAF5	79133	HP:0001251	Ataxia
OMIM:252010	NDUFAF5	79133	HP:0003546	Exercise intolerance
OMIM:252010	NDUFAF5	79133	HP:0001508	Failure to thrive
OMIM:252010	NDUFAF5	79133	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFAF5	79133	HP:0001399	Hepatic failure
OMIM:252010	NDUFAF5	79133	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFAF5	79133	HP:0001257	Spasticity
OMIM:252010	NDUFAF5	79133	HP:0002376	Developmental regression
OMIM:252010	NDUFAF5	79133	HP:0000486	Strabismus
OMIM:252010	NDUFAF5	79133	HP:0000639	Nystagmus
OMIM:252010	NDUFAF5	79133	HP:0003487	Babinski sign
OMIM:252010	NDUFAF5	79133	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFAF5	79133	HP:0001347	Hyperreflexia
OMIM:252010	NDUFAF5	79133	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFAF5	79133	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFAF5	79133	HP:0001254	Lethargy
OMIM:252010	NDUFAF5	79133	HP:0000543	Optic disc pallor
OMIM:252010	NDUFAF5	79133	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFAF5	79133	HP:0000618	Blindness
OMIM:252010	NDUFAF5	79133	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFAF5	79133	HP:0001263	Global developmental delay
OMIM:252010	NDUFAF5	79133	HP:0001510	Growth delay
OMIM:252010	NDUFAF1	51103	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFAF1	51103	HP:0001259	Coma
OMIM:252010	NDUFAF1	51103	HP:0001265	Hyporeflexia
OMIM:252010	NDUFAF1	51103	HP:0002878	Respiratory failure
OMIM:252010	NDUFAF1	51103	HP:0001250	Seizures
OMIM:252010	NDUFAF1	51103	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFAF1	51103	HP:0002181	Cerebral edema
OMIM:252010	NDUFAF1	51103	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFAF1	51103	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFAF1	51103	HP:0003128	Lactic acidosis
OMIM:252010	NDUFAF1	51103	HP:0000508	Ptosis
OMIM:252010	NDUFAF1	51103	HP:0001324	Muscle weakness
OMIM:252010	NDUFAF1	51103	HP:0001943	Hypoglycemia
OMIM:252010	NDUFAF1	51103	HP:0002013	Vomiting
OMIM:252010	NDUFAF1	51103	HP:0003812	Phenotypic variability
OMIM:252010	NDUFAF1	51103	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFAF1	51103	HP:0002415	Leukodystrophy
OMIM:252010	NDUFAF1	51103	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFAF1	51103	HP:0001251	Ataxia
OMIM:252010	NDUFAF1	51103	HP:0003546	Exercise intolerance
OMIM:252010	NDUFAF1	51103	HP:0001508	Failure to thrive
OMIM:252010	NDUFAF1	51103	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFAF1	51103	HP:0001399	Hepatic failure
OMIM:252010	NDUFAF1	51103	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFAF1	51103	HP:0001257	Spasticity
OMIM:252010	NDUFAF1	51103	HP:0002376	Developmental regression
OMIM:252010	NDUFAF1	51103	HP:0000486	Strabismus
OMIM:252010	NDUFAF1	51103	HP:0000639	Nystagmus
OMIM:252010	NDUFAF1	51103	HP:0003487	Babinski sign
OMIM:252010	NDUFAF1	51103	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFAF1	51103	HP:0001347	Hyperreflexia
OMIM:252010	NDUFAF1	51103	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFAF1	51103	HP:0001252	Muscular hypotonia
OMIM:252010	NDUFAF1	51103	HP:0001254	Lethargy
OMIM:252010	NDUFAF1	51103	HP:0000543	Optic disc pallor
OMIM:252010	NDUFAF1	51103	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFAF1	51103	HP:0000618	Blindness
OMIM:252010	NDUFAF1	51103	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFAF1	51103	HP:0001263	Global developmental delay
OMIM:252010	NDUFAF1	51103	HP:0001510	Growth delay
OMIM:615515	TREM2	54209	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:615515	TREM2	54209	HP:0006957	Loss of ability to walk
OMIM:615515	VAPB	9217	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:615515	VAPB	9217	HP:0006957	Loss of ability to walk
OMIM:615515	PON1	5444	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:615515	PON1	5444	HP:0006957	Loss of ability to walk
OMIM:615515	PON2	5445	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:615515	PON2	5445	HP:0006957	Loss of ability to walk
OMIM:615515	PON3	5446	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:615515	PON3	5446	HP:0006957	Loss of ability to walk
OMIM:615515	NEFH	4744	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:615515	NEFH	4744	HP:0006957	Loss of ability to walk
OMIM:615515	DAO	1610	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:615515	DAO	1610	HP:0006957	Loss of ability to walk
OMIM:615515	TARDBP	23435	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:615515	TARDBP	23435	HP:0006957	Loss of ability to walk
OMIM:615515	PPARGC1A	10891	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:615515	PPARGC1A	10891	HP:0006957	Loss of ability to walk
OMIM:615515	ERBB4	2066	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:615515	ERBB4	2066	HP:0006957	Loss of ability to walk
OMIM:615515	CHCHD10	400916	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:615515	CHCHD10	400916	HP:0006957	Loss of ability to walk
OMIM:615515	OPTN	10133	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:615515	OPTN	10133	HP:0006957	Loss of ability to walk
OMIM:615515	FUS	2521	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:615515	FUS	2521	HP:0006957	Loss of ability to walk
OMIM:615515	UBQLN2	29978	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:615515	UBQLN2	29978	HP:0006957	Loss of ability to walk
OMIM:615515	ANG	283	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:615515	ANG	283	HP:0006957	Loss of ability to walk
OMIM:615515	C9ORF72	203228	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:615515	C9ORF72	203228	HP:0006957	Loss of ability to walk
OMIM:615515	PFN1	5216	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:615515	PFN1	5216	HP:0006957	Loss of ability to walk
OMIM:615515	ATXN2	6311	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:615515	ATXN2	6311	HP:0006957	Loss of ability to walk
OMIM:615515	DCTN1	1639	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:615515	DCTN1	1639	HP:0006957	Loss of ability to walk
OMIM:615515	FIG4	9896	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:615515	FIG4	9896	HP:0006957	Loss of ability to walk
OMIM:615515	HNRNPA1	3178	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:615515	HNRNPA1	3178	HP:0006957	Loss of ability to walk
OMIM:615515	SQSTM1	8878	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:615515	SQSTM1	8878	HP:0006957	Loss of ability to walk
OMIM:615515	UNC13A	23025	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:615515	UNC13A	23025	HP:0006957	Loss of ability to walk
OMIM:615515	MATR3	9782	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:615515	MATR3	9782	HP:0006957	Loss of ability to walk
OMIM:615515	TBK1	29110	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:615515	TBK1	29110	HP:0006957	Loss of ability to walk
OMIM:615515	SOD1	6647	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:615515	SOD1	6647	HP:0006957	Loss of ability to walk
OMIM:615515	VCP	7415	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:615515	VCP	7415	HP:0006957	Loss of ability to walk
OMIM:615515	CHMP2B	25978	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:615515	CHMP2B	25978	HP:0006957	Loss of ability to walk
OMIM:615515	PRPH	5630	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615515	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615515	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:615515	PRPH	5630	HP:0006957	Loss of ability to walk
OMIM:145600	RYR1	6261	HP:0002153	Hyperkalemia
OMIM:145600	RYR1	6261	HP:0002063	Rigidity
OMIM:145600	RYR1	6261	HP:0002913	Myoglobinuria
OMIM:145600	RYR1	6261	HP:0001649	Tachycardia
OMIM:145600	RYR1	6261	HP:0000006	Autosomal dominant inheritance
OMIM:145600	RYR1	6261	HP:0001945	Fever
OMIM:145600	RYR1	6261	HP:0003236	Elevated serum creatine phosphokinase
OMIM:145600	RYR1	6261	HP:0003256	Abnormality of the coagulation cascade
OMIM:145600	RYR1	6261	HP:0002905	Hyperphosphatemia
OMIM:145600	RYR1	6261	HP:0003201	Rhabdomyolysis
OMIM:145600	CACNA1S	779	HP:0002153	Hyperkalemia
OMIM:145600	CACNA1S	779	HP:0002063	Rigidity
OMIM:145600	CACNA1S	779	HP:0002913	Myoglobinuria
OMIM:145600	CACNA1S	779	HP:0001649	Tachycardia
OMIM:145600	CACNA1S	779	HP:0000006	Autosomal dominant inheritance
OMIM:145600	CACNA1S	779	HP:0001945	Fever
OMIM:145600	CACNA1S	779	HP:0003236	Elevated serum creatine phosphokinase
OMIM:145600	CACNA1S	779	HP:0003256	Abnormality of the coagulation cascade
OMIM:145600	CACNA1S	779	HP:0002905	Hyperphosphatemia
OMIM:145600	CACNA1S	779	HP:0003201	Rhabdomyolysis
OMIM:209880	PHOX2B	8929	HP:0000153	Abnormality of the mouth
OMIM:209880	PHOX2B	8929	HP:0002251	Aganglionic megacolon
OMIM:209880	PHOX2B	8929	HP:0000369	Low-set ears
OMIM:209880	PHOX2B	8929	HP:0000358	Posteriorly rotated ears
OMIM:209880	PHOX2B	8929	HP:0001252	Muscular hypotonia
OMIM:209880	PHOX2B	8929	HP:0003006	Neuroblastoma
OMIM:209880	PHOX2B	8929	HP:0004322	Short stature
OMIM:209880	PHOX2B	8929	HP:0007110	Central hypoventilation
OMIM:209880	PHOX2B	8929	HP:0000006	Autosomal dominant inheritance
OMIM:209880	PHOX2B	8929	HP:0003005	Ganglioneuroma
OMIM:209880	PHOX2B	8929	HP:0001250	Seizures
OMIM:209880	PHOX2B	8929	HP:0001557	Prenatal movement abnormality
OMIM:209880	PHOX2B	8929	HP:0001561	Polyhydramnios
OMIM:209880	PHOX2B	8929	HP:0011968	Feeding difficulties
OMIM:209880	PHOX2B	8929	HP:0002104	Apnea
OMIM:209880	PHOX2B	8929	HP:0100543	Cognitive impairment
OMIM:209880	PHOX2B	8929	HP:0000494	Downslanted palpebral fissures
OMIM:209880	PHOX2B	8929	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	PHOX2B	8929	HP:0001562	Oligohydramnios
OMIM:209880	PHOX2B	8929	HP:0002093	Respiratory insufficiency
OMIM:209880	PHOX2B	8929	HP:0004370	Abnormality of temperature regulation
OMIM:209880	PHOX2B	8929	HP:0000486	Strabismus
OMIM:209880	PHOX2B	8929	HP:0000407	Sensorineural hearing impairment
OMIM:209880	PHOX2B	8929	HP:0006747	Ganglioneuroblastoma
OMIM:209880	PHOX2B	8929	HP:0000975	Hyperhidrosis
OMIM:209880	PHOX2B	8929	HP:0002019	Constipation
OMIM:209880	BDNF	627	HP:0000153	Abnormality of the mouth
OMIM:209880	BDNF	627	HP:0002251	Aganglionic megacolon
OMIM:209880	BDNF	627	HP:0000369	Low-set ears
OMIM:209880	BDNF	627	HP:0000358	Posteriorly rotated ears
OMIM:209880	BDNF	627	HP:0001252	Muscular hypotonia
OMIM:209880	BDNF	627	HP:0003006	Neuroblastoma
OMIM:209880	BDNF	627	HP:0004322	Short stature
OMIM:209880	BDNF	627	HP:0007110	Central hypoventilation
OMIM:209880	BDNF	627	HP:0000006	Autosomal dominant inheritance
OMIM:209880	BDNF	627	HP:0003005	Ganglioneuroma
OMIM:209880	BDNF	627	HP:0001250	Seizures
OMIM:209880	BDNF	627	HP:0001557	Prenatal movement abnormality
OMIM:209880	BDNF	627	HP:0001561	Polyhydramnios
OMIM:209880	BDNF	627	HP:0011968	Feeding difficulties
OMIM:209880	BDNF	627	HP:0002104	Apnea
OMIM:209880	BDNF	627	HP:0100543	Cognitive impairment
OMIM:209880	BDNF	627	HP:0000494	Downslanted palpebral fissures
OMIM:209880	BDNF	627	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	BDNF	627	HP:0001562	Oligohydramnios
OMIM:209880	BDNF	627	HP:0002093	Respiratory insufficiency
OMIM:209880	BDNF	627	HP:0004370	Abnormality of temperature regulation
OMIM:209880	BDNF	627	HP:0000486	Strabismus
OMIM:209880	BDNF	627	HP:0000407	Sensorineural hearing impairment
OMIM:209880	BDNF	627	HP:0006747	Ganglioneuroblastoma
OMIM:209880	BDNF	627	HP:0000975	Hyperhidrosis
OMIM:209880	BDNF	627	HP:0002019	Constipation
OMIM:209880	EDN3	1908	HP:0000153	Abnormality of the mouth
OMIM:209880	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:209880	EDN3	1908	HP:0000369	Low-set ears
OMIM:209880	EDN3	1908	HP:0000358	Posteriorly rotated ears
OMIM:209880	EDN3	1908	HP:0001252	Muscular hypotonia
OMIM:209880	EDN3	1908	HP:0003006	Neuroblastoma
OMIM:209880	EDN3	1908	HP:0004322	Short stature
OMIM:209880	EDN3	1908	HP:0007110	Central hypoventilation
OMIM:209880	EDN3	1908	HP:0000006	Autosomal dominant inheritance
OMIM:209880	EDN3	1908	HP:0003005	Ganglioneuroma
OMIM:209880	EDN3	1908	HP:0001250	Seizures
OMIM:209880	EDN3	1908	HP:0001557	Prenatal movement abnormality
OMIM:209880	EDN3	1908	HP:0001561	Polyhydramnios
OMIM:209880	EDN3	1908	HP:0011968	Feeding difficulties
OMIM:209880	EDN3	1908	HP:0002104	Apnea
OMIM:209880	EDN3	1908	HP:0100543	Cognitive impairment
OMIM:209880	EDN3	1908	HP:0000494	Downslanted palpebral fissures
OMIM:209880	EDN3	1908	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	EDN3	1908	HP:0001562	Oligohydramnios
OMIM:209880	EDN3	1908	HP:0002093	Respiratory insufficiency
OMIM:209880	EDN3	1908	HP:0004370	Abnormality of temperature regulation
OMIM:209880	EDN3	1908	HP:0000486	Strabismus
OMIM:209880	EDN3	1908	HP:0000407	Sensorineural hearing impairment
OMIM:209880	EDN3	1908	HP:0006747	Ganglioneuroblastoma
OMIM:209880	EDN3	1908	HP:0000975	Hyperhidrosis
OMIM:209880	EDN3	1908	HP:0002019	Constipation
OMIM:209880	RET	5979	HP:0000153	Abnormality of the mouth
OMIM:209880	RET	5979	HP:0002251	Aganglionic megacolon
OMIM:209880	RET	5979	HP:0000369	Low-set ears
OMIM:209880	RET	5979	HP:0000358	Posteriorly rotated ears
OMIM:209880	RET	5979	HP:0001252	Muscular hypotonia
OMIM:209880	RET	5979	HP:0003006	Neuroblastoma
OMIM:209880	RET	5979	HP:0004322	Short stature
OMIM:209880	RET	5979	HP:0007110	Central hypoventilation
OMIM:209880	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:209880	RET	5979	HP:0003005	Ganglioneuroma
OMIM:209880	RET	5979	HP:0001250	Seizures
OMIM:209880	RET	5979	HP:0001557	Prenatal movement abnormality
OMIM:209880	RET	5979	HP:0001561	Polyhydramnios
OMIM:209880	RET	5979	HP:0011968	Feeding difficulties
OMIM:209880	RET	5979	HP:0002104	Apnea
OMIM:209880	RET	5979	HP:0100543	Cognitive impairment
OMIM:209880	RET	5979	HP:0000494	Downslanted palpebral fissures
OMIM:209880	RET	5979	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	RET	5979	HP:0001562	Oligohydramnios
OMIM:209880	RET	5979	HP:0002093	Respiratory insufficiency
OMIM:209880	RET	5979	HP:0004370	Abnormality of temperature regulation
OMIM:209880	RET	5979	HP:0000486	Strabismus
OMIM:209880	RET	5979	HP:0000407	Sensorineural hearing impairment
OMIM:209880	RET	5979	HP:0006747	Ganglioneuroblastoma
OMIM:209880	RET	5979	HP:0000975	Hyperhidrosis
OMIM:209880	RET	5979	HP:0002019	Constipation
OMIM:209880	GDNF	2668	HP:0000153	Abnormality of the mouth
OMIM:209880	GDNF	2668	HP:0002251	Aganglionic megacolon
OMIM:209880	GDNF	2668	HP:0000369	Low-set ears
OMIM:209880	GDNF	2668	HP:0000358	Posteriorly rotated ears
OMIM:209880	GDNF	2668	HP:0001252	Muscular hypotonia
OMIM:209880	GDNF	2668	HP:0003006	Neuroblastoma
OMIM:209880	GDNF	2668	HP:0004322	Short stature
OMIM:209880	GDNF	2668	HP:0007110	Central hypoventilation
OMIM:209880	GDNF	2668	HP:0000006	Autosomal dominant inheritance
OMIM:209880	GDNF	2668	HP:0003005	Ganglioneuroma
OMIM:209880	GDNF	2668	HP:0001250	Seizures
OMIM:209880	GDNF	2668	HP:0001557	Prenatal movement abnormality
OMIM:209880	GDNF	2668	HP:0001561	Polyhydramnios
OMIM:209880	GDNF	2668	HP:0011968	Feeding difficulties
OMIM:209880	GDNF	2668	HP:0002104	Apnea
OMIM:209880	GDNF	2668	HP:0100543	Cognitive impairment
OMIM:209880	GDNF	2668	HP:0000494	Downslanted palpebral fissures
OMIM:209880	GDNF	2668	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	GDNF	2668	HP:0001562	Oligohydramnios
OMIM:209880	GDNF	2668	HP:0002093	Respiratory insufficiency
OMIM:209880	GDNF	2668	HP:0004370	Abnormality of temperature regulation
OMIM:209880	GDNF	2668	HP:0000486	Strabismus
OMIM:209880	GDNF	2668	HP:0000407	Sensorineural hearing impairment
OMIM:209880	GDNF	2668	HP:0006747	Ganglioneuroblastoma
OMIM:209880	GDNF	2668	HP:0000975	Hyperhidrosis
OMIM:209880	GDNF	2668	HP:0002019	Constipation
OMIM:209880	ASCL1	429	HP:0000153	Abnormality of the mouth
OMIM:209880	ASCL1	429	HP:0002251	Aganglionic megacolon
OMIM:209880	ASCL1	429	HP:0000369	Low-set ears
OMIM:209880	ASCL1	429	HP:0000358	Posteriorly rotated ears
OMIM:209880	ASCL1	429	HP:0001252	Muscular hypotonia
OMIM:209880	ASCL1	429	HP:0003006	Neuroblastoma
OMIM:209880	ASCL1	429	HP:0004322	Short stature
OMIM:209880	ASCL1	429	HP:0007110	Central hypoventilation
OMIM:209880	ASCL1	429	HP:0000006	Autosomal dominant inheritance
OMIM:209880	ASCL1	429	HP:0003005	Ganglioneuroma
OMIM:209880	ASCL1	429	HP:0001250	Seizures
OMIM:209880	ASCL1	429	HP:0001557	Prenatal movement abnormality
OMIM:209880	ASCL1	429	HP:0001561	Polyhydramnios
OMIM:209880	ASCL1	429	HP:0011968	Feeding difficulties
OMIM:209880	ASCL1	429	HP:0002104	Apnea
OMIM:209880	ASCL1	429	HP:0100543	Cognitive impairment
OMIM:209880	ASCL1	429	HP:0000494	Downslanted palpebral fissures
OMIM:209880	ASCL1	429	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	ASCL1	429	HP:0001562	Oligohydramnios
OMIM:209880	ASCL1	429	HP:0002093	Respiratory insufficiency
OMIM:209880	ASCL1	429	HP:0004370	Abnormality of temperature regulation
OMIM:209880	ASCL1	429	HP:0000486	Strabismus
OMIM:209880	ASCL1	429	HP:0000407	Sensorineural hearing impairment
OMIM:209880	ASCL1	429	HP:0006747	Ganglioneuroblastoma
OMIM:209880	ASCL1	429	HP:0000975	Hyperhidrosis
OMIM:209880	ASCL1	429	HP:0002019	Constipation
OMIM:609637	ZIC2	7546	HP:0005280	Depressed nasal bridge
OMIM:609637	ZIC2	7546	HP:0001263	Global developmental delay
OMIM:609637	ZIC2	7546	HP:0000238	Hydrocephalus
OMIM:609637	ZIC2	7546	HP:0000400	Macrotia
OMIM:609637	ZIC2	7546	HP:0000202	Oral cleft
OMIM:609637	ZIC2	7546	HP:0000341	Narrow forehead
OMIM:609637	ZIC2	7546	HP:0000601	Hypotelorism
OMIM:609637	ZIC2	7546	HP:0001360	Holoprosencephaly
OMIM:609637	ZIC2	7546	HP:0000218	High palate
OMIM:609637	ZIC2	7546	HP:0000006	Autosomal dominant inheritance
OMIM:609637	ZIC2	7546	HP:0001249	Intellectual disability
OMIM:609637	ZIC2	7546	HP:0000582	Upslanted palpebral fissure
OMIM:609637	ZIC2	7546	HP:0000252	Microcephaly
OMIM:609637	ZIC2	7546	HP:0001999	Abnormal facial shape
OMIM:609637	ZIC2	7546	HP:0000243	Trigonocephaly
OMIM:609637	ZIC2	7546	HP:0000664	Synophrys
OMIM:609637	ZIC2	7546	HP:0000316	Hypertelorism
OMIM:193500	PAX3	5077	HP:0002251	Aganglionic megacolon
OMIM:193500	PAX3	5077	HP:0010804	Tented upper lip vermilion
OMIM:193500	PAX3	5077	HP:0000303	Mandibular prognathia
OMIM:193500	PAX3	5077	HP:0000431	Wide nasal bridge
OMIM:193500	PAX3	5077	HP:0000506	Telecanthus
OMIM:193500	PAX3	5077	HP:0007894	Hypopigmentation of the fundus
OMIM:193500	PAX3	5077	HP:0000202	Oral cleft
OMIM:193500	PAX3	5077	HP:0001100	Heterochromia iridis
OMIM:193500	PAX3	5077	HP:0000175	Cleft palate
OMIM:193500	PAX3	5077	HP:0000664	Synophrys
OMIM:193500	PAX3	5077	HP:0000581	Blepharophimosis
OMIM:193500	PAX3	5077	HP:0002211	White forelock
OMIM:193500	PAX3	5077	HP:0002216	Premature graying of hair
OMIM:193500	PAX3	5077	HP:0002226	White eyebrow
OMIM:193500	PAX3	5077	HP:0000430	Underdeveloped nasal alae
OMIM:193500	PAX3	5077	HP:0000912	Sprengel anomaly
OMIM:193500	PAX3	5077	HP:0000486	Strabismus
OMIM:193500	PAX3	5077	HP:0000365	Hearing impairment
OMIM:193500	PAX3	5077	HP:0002650	Scoliosis
OMIM:193500	PAX3	5077	HP:0003196	Short nose
OMIM:193500	PAX3	5077	HP:0000574	Thick eyebrow
OMIM:193500	PAX3	5077	HP:0008527	Congenital sensorineural hearing impairment
OMIM:193500	PAX3	5077	HP:0000316	Hypertelorism
OMIM:193500	PAX3	5077	HP:0000204	Cleft upper lip
OMIM:193500	PAX3	5077	HP:0002227	White eyelashes
OMIM:193500	PAX3	5077	HP:0001053	Hypopigmented skin patches
OMIM:193500	PAX3	5077	HP:0000319	Smooth philtrum
OMIM:193500	PAX3	5077	HP:0000508	Ptosis
OMIM:193500	PAX3	5077	HP:0000006	Autosomal dominant inheritance
OMIM:193500	PAX3	5077	HP:0002435	Meningocele
OMIM:193500	PAX3	5077	HP:0000632	Lacrimation abnormality
OMIM:606445	CARD11	84433	HP:0000006	Autosomal dominant inheritance
OMIM:606445	CARD11	84433	HP:0002719	Recurrent infections
OMIM:606445	CARD11	84433	HP:0002240	Hepatomegaly
OMIM:606445	CARD11	84433	HP:0001744	Splenomegaly
OMIM:610198	DNAJC19	131118	HP:0000007	Autosomal recessive inheritance
OMIM:610198	DNAJC19	131118	HP:0000648	Optic atrophy
OMIM:610198	DNAJC19	131118	HP:0000047	Hypospadias
OMIM:610198	DNAJC19	131118	HP:0001324	Muscle weakness
OMIM:610198	DNAJC19	131118	HP:0008897	Postnatal growth retardation
OMIM:610198	DNAJC19	131118	HP:0001511	Intrauterine growth retardation
OMIM:610198	DNAJC19	131118	HP:0001644	Dilated cardiomyopathy
OMIM:610198	DNAJC19	131118	HP:0008734	Decreased testicular size
OMIM:610198	DNAJC19	131118	HP:0001657	Prolonged QT interval
OMIM:610198	DNAJC19	131118	HP:0000028	Cryptorchidism
OMIM:610198	DNAJC19	131118	HP:0001635	Congestive heart failure
OMIM:610198	DNAJC19	131118	HP:0001249	Intellectual disability
OMIM:610198	DNAJC19	131118	HP:0012817	Noncompaction cardiomyopathy
OMIM:610198	DNAJC19	131118	HP:0001645	Sudden cardiac death
OMIM:155310	ACTG2	72	HP:0002014	Diarrhea
OMIM:155310	ACTG2	72	HP:0001537	Umbilical hernia
OMIM:155310	ACTG2	72	HP:0010935	Abnormality of the upper urinary tract
OMIM:155310	ACTG2	72	HP:0000126	Hydronephrosis
OMIM:155310	ACTG2	72	HP:0001733	Pancreatitis
OMIM:155310	ACTG2	72	HP:0002015	Dysphagia
OMIM:155310	ACTG2	72	HP:0001561	Polyhydramnios
OMIM:155310	ACTG2	72	HP:0100490	Camptodactyly of finger
OMIM:155310	ACTG2	72	HP:0000368	Low-set, posteriorly rotated ears
OMIM:155310	ACTG2	72	HP:0000006	Autosomal dominant inheritance
OMIM:155310	ACTG2	72	HP:0000076	Vesicoureteral reflux
OMIM:155310	ACTG2	72	HP:0003363	Abdominal situs inversus
OMIM:155310	ACTG2	72	HP:0000463	Anteverted nares
OMIM:155310	ACTG2	72	HP:0000774	Narrow chest
OMIM:155310	ACTG2	72	HP:0000311	Round face
OMIM:155310	ACTG2	72	HP:0000347	Micrognathia
OMIM:155310	ACTG2	72	HP:0002251	Aganglionic megacolon
OMIM:155310	ACTG2	72	HP:0002013	Vomiting
OMIM:155310	ACTG2	72	HP:0001376	Limitation of joint mobility
OMIM:155310	ACTG2	72	HP:0100867	Duodenal stenosis
OMIM:155310	ACTG2	72	HP:0000175	Cleft palate
OMIM:155310	ACTG2	72	HP:0000426	Prominent nasal bridge
OMIM:155310	ACTG2	72	HP:0000843	Hyperparathyroidism
OMIM:155310	ACTG2	72	HP:0002019	Constipation
OMIM:155310	ACTG2	72	HP:0000337	Broad forehead
OMIM:155310	ACTG2	72	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:155310	ACTG2	72	HP:0001798	Anonychia
OMIM:155310	ACTG2	72	HP:0000252	Microcephaly
OMIM:155310	ACTG2	72	HP:0001166	Arachnodactyly
OMIM:155310	ACTG2	72	HP:0004395	Malnutrition
OMIM:616221	AMBN	258	HP:0000007	Autosomal recessive inheritance
OMIM:616221	AMBN	258	HP:0006297	Hypoplasia of dental enamel
OMIM:616221	ENAM	10117	HP:0000007	Autosomal recessive inheritance
OMIM:616221	ENAM	10117	HP:0006297	Hypoplasia of dental enamel
OMIM:616221	LAMB3	3914	HP:0000007	Autosomal recessive inheritance
OMIM:616221	LAMB3	3914	HP:0006297	Hypoplasia of dental enamel
OMIM:616221	ITGB6	3694	HP:0000007	Autosomal recessive inheritance
OMIM:616221	ITGB6	3694	HP:0006297	Hypoplasia of dental enamel
OMIM:201810	HSD3B2	3284	HP:0000037	Male pseudohermaphroditism
OMIM:201810	HSD3B2	3284	HP:0000047	Hypospadias
OMIM:201810	HSD3B2	3284	HP:0008221	Adrenal hyperplasia
OMIM:182980	VAPB	9217	HP:0002380	Fasciculations
OMIM:182980	VAPB	9217	HP:0003445	EMG: neuropathic changes
OMIM:182980	VAPB	9217	HP:0007269	Spinal muscular atrophy
OMIM:182980	VAPB	9217	HP:0001265	Hyporeflexia
OMIM:182980	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:182980	VAPB	9217	HP:0003701	Proximal muscle weakness
OMIM:600880	JAK2	3717	HP:0002024	Malabsorption
OMIM:600880	JAK2	3717	HP:0002027	Abdominal pain
OMIM:600880	JAK2	3717	HP:0001080	Biliary tract abnormality
OMIM:600880	JAK2	3717	HP:0001394	Cirrhosis
OMIM:600880	JAK2	3717	HP:0001541	Ascites
OMIM:600880	JAK2	3717	HP:0001744	Splenomegaly
OMIM:600880	JAK2	3717	HP:0002239	Gastrointestinal hemorrhage
OMIM:600880	JAK2	3717	HP:0002910	Elevated hepatic transaminases
OMIM:600880	JAK2	3717	HP:0005214	Intestinal obstruction
OMIM:600880	JAK2	3717	HP:0004370	Abnormality of temperature regulation
OMIM:600880	JAK2	3717	HP:0002240	Hepatomegaly
OMIM:600880	JAK2	3717	HP:0001409	Portal hypertension
OMIM:600880	JAK2	3717	HP:0001824	Weight loss
OMIM:600880	F5	2153	HP:0002024	Malabsorption
OMIM:600880	F5	2153	HP:0002027	Abdominal pain
OMIM:600880	F5	2153	HP:0001080	Biliary tract abnormality
OMIM:600880	F5	2153	HP:0001394	Cirrhosis
OMIM:600880	F5	2153	HP:0001541	Ascites
OMIM:600880	F5	2153	HP:0001744	Splenomegaly
OMIM:600880	F5	2153	HP:0002239	Gastrointestinal hemorrhage
OMIM:600880	F5	2153	HP:0002910	Elevated hepatic transaminases
OMIM:600880	F5	2153	HP:0005214	Intestinal obstruction
OMIM:600880	F5	2153	HP:0004370	Abnormality of temperature regulation
OMIM:600880	F5	2153	HP:0002240	Hepatomegaly
OMIM:600880	F5	2153	HP:0001409	Portal hypertension
OMIM:600880	F5	2153	HP:0001824	Weight loss
OMIM:613796	STAT1	6772	HP:0012302	Herpes simplex encephalitis
OMIM:613796	STAT1	6772	HP:0011274	Recurrent mycobacterial infections
OMIM:613796	STAT1	6772	HP:0000007	Autosomal recessive inheritance
OMIM:185070	STIM1	6786	HP:0000490	Deeply set eye
OMIM:185070	STIM1	6786	HP:0000616	Miosis
OMIM:185070	STIM1	6786	HP:0002076	Migraine
OMIM:185070	STIM1	6786	HP:0003198	Myopathy
OMIM:185070	STIM1	6786	HP:0008064	Ichthyosis
OMIM:185070	STIM1	6786	HP:0003701	Proximal muscle weakness
OMIM:185070	STIM1	6786	HP:0004322	Short stature
OMIM:185070	STIM1	6786	HP:0000348	High forehead
OMIM:185070	STIM1	6786	HP:0001743	Abnormality of the spleen
OMIM:185070	STIM1	6786	HP:0001903	Anemia
OMIM:185070	STIM1	6786	HP:0001928	Abnormality of coagulation
OMIM:185070	STIM1	6786	HP:0010522	Dyslexia
OMIM:185070	STIM1	6786	HP:0000006	Autosomal dominant inheritance
OMIM:185070	STIM1	6786	HP:0001872	Abnormality of thrombocytes
OMIM:185070	STIM1	6786	HP:0000448	Prominent nose
OMIM:185070	STIM1	6786	HP:0002167	Neurological speech impairment
OMIM:185070	STIM1	6786	HP:0000615	Abnormality of the pupil
OMIM:185070	STIM1	6786	HP:0001873	Thrombocytopenia
OMIM:185070	STIM1	6786	HP:0000601	Hypotelorism
OMIM:185070	STIM1	6786	HP:0003236	Elevated serum creatine phosphokinase
OMIM:185070	STIM1	6786	HP:0001933	Subcutaneous hemorrhage
OMIM:185070	STIM1	6786	HP:0003011	Abnormality of the musculature
OMIM:185070	STIM1	6786	HP:0000421	Epistaxis
OMIM:185070	STIM1	6786	HP:0003326	Myalgia
OMIM:232300	GAA	2548	HP:0008872	Feeding difficulties in infancy
OMIM:232300	GAA	2548	HP:0001640	Cardiomegaly
OMIM:232300	GAA	2548	HP:0002097	Emphysema
OMIM:232300	GAA	2548	HP:0003701	Proximal muscle weakness
OMIM:232300	GAA	2548	HP:0100543	Cognitive impairment
OMIM:232300	GAA	2548	HP:0001945	Fever
OMIM:232300	GAA	2548	HP:0005978	Type II diabetes mellitus
OMIM:232300	GAA	2548	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:232300	GAA	2548	HP:0003236	Elevated serum creatine phosphokinase
OMIM:232300	GAA	2548	HP:0002205	Recurrent respiratory infections
OMIM:232300	GAA	2548	HP:0001252	Muscular hypotonia
OMIM:232300	GAA	2548	HP:0002353	EEG abnormality
OMIM:232300	GAA	2548	HP:0001288	Gait disturbance
OMIM:232300	GAA	2548	HP:0003457	EMG abnormality
OMIM:232300	GAA	2548	HP:0000157	Abnormality of the tongue
OMIM:232300	GAA	2548	HP:0002240	Hepatomegaly
OMIM:232300	GAA	2548	HP:0000007	Autosomal recessive inheritance
OMIM:232300	GAA	2548	HP:0002094	Dyspnea
OMIM:232300	GAA	2548	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:232300	GAA	2548	HP:0001250	Seizures
OMIM:232300	GAA	2548	HP:0003198	Myopathy
OMIM:232300	GAA	2548	HP:0011675	Arrhythmia
OMIM:232300	GAA	2548	HP:0001284	Areflexia
OMIM:232300	GAA	2548	HP:0002167	Neurological speech impairment
OMIM:232300	GAA	2548	HP:0001744	Splenomegaly
OMIM:232300	GAA	2548	HP:0000365	Hearing impairment
OMIM:232300	GAA	2548	HP:0000158	Macroglossia
OMIM:232300	GAA	2548	HP:0001639	Hypertrophic cardiomyopathy
OMIM:232300	GAA	2548	HP:0011400	Abnormal CNS myelination
OMIM:192315	TREX1	11277	HP:0000790	Hematuria
OMIM:192315	TREX1	11277	HP:0002186	Apraxia
OMIM:192315	TREX1	11277	HP:0003676	Progressive
OMIM:192315	TREX1	11277	HP:0001297	Stroke
OMIM:192315	TREX1	11277	HP:0002076	Migraine
OMIM:192315	TREX1	11277	HP:0100022	Abnormality of movement
OMIM:192315	TREX1	11277	HP:0002637	Cerebral ischemia
OMIM:192315	TREX1	11277	HP:0000505	Visual impairment
OMIM:192315	TREX1	11277	HP:0002518	Abnormality of the periventricular white matter
OMIM:192315	TREX1	11277	HP:0000488	Retinopathy
OMIM:192315	TREX1	11277	HP:0008046	Abnormality of the retinal vasculature
OMIM:192315	TREX1	11277	HP:0000708	Behavioral abnormality
OMIM:192315	TREX1	11277	HP:0001437	Abnormality of the musculature of the lower limbs
OMIM:192315	TREX1	11277	HP:0003581	Adult onset
OMIM:192315	TREX1	11277	HP:0000518	Cataract
OMIM:192315	TREX1	11277	HP:0000726	Dementia
OMIM:192315	TREX1	11277	HP:0001250	Seizures
OMIM:192315	TREX1	11277	HP:0002167	Neurological speech impairment
OMIM:192315	TREX1	11277	HP:0040049	Macular edema
OMIM:192315	TREX1	11277	HP:0000112	Nephropathy
OMIM:192315	TREX1	11277	HP:0000501	Glaucoma
OMIM:192315	TREX1	11277	HP:0004374	Hemiplegia/hemiparesis
OMIM:192315	TREX1	11277	HP:0002311	Incoordination
OMIM:192315	TREX1	11277	HP:0001009	Telangiectasia
OMIM:192315	TREX1	11277	HP:0002376	Developmental regression
OMIM:192315	TREX1	11277	HP:0000093	Proteinuria
OMIM:192315	TREX1	11277	HP:0002910	Elevated hepatic transaminases
OMIM:192315	TREX1	11277	HP:0001260	Dysarthria
OMIM:192315	TREX1	11277	HP:0001146	Pigmentary retinal degeneration
OMIM:192315	TREX1	11277	HP:0000006	Autosomal dominant inheritance
OMIM:192315	TREX1	11277	HP:0000529	Progressive visual loss
OMIM:616025	PIGO	84720	HP:0001249	Intellectual disability
OMIM:616025	PIGO	84720	HP:0002521	Hypsarrhythmia
OMIM:616025	PIGO	84720	HP:0001263	Global developmental delay
OMIM:616025	PIGO	84720	HP:0000431	Wide nasal bridge
OMIM:616025	PIGO	84720	HP:0010804	Tented upper lip vermilion
OMIM:616025	PIGV	55650	HP:0001249	Intellectual disability
OMIM:616025	PIGV	55650	HP:0002521	Hypsarrhythmia
OMIM:616025	PIGV	55650	HP:0001263	Global developmental delay
OMIM:616025	PIGV	55650	HP:0000431	Wide nasal bridge
OMIM:616025	PIGV	55650	HP:0010804	Tented upper lip vermilion
OMIM:616025	PGAP2	27315	HP:0001249	Intellectual disability
OMIM:616025	PGAP2	27315	HP:0002521	Hypsarrhythmia
OMIM:616025	PGAP2	27315	HP:0001263	Global developmental delay
OMIM:616025	PGAP2	27315	HP:0000431	Wide nasal bridge
OMIM:616025	PGAP2	27315	HP:0010804	Tented upper lip vermilion
OMIM:616025	PIGW	284098	HP:0001249	Intellectual disability
OMIM:616025	PIGW	284098	HP:0002521	Hypsarrhythmia
OMIM:616025	PIGW	284098	HP:0001263	Global developmental delay
OMIM:616025	PIGW	284098	HP:0000431	Wide nasal bridge
OMIM:616025	PIGW	284098	HP:0010804	Tented upper lip vermilion
OMIM:616025	PGAP3	93210	HP:0001249	Intellectual disability
OMIM:616025	PGAP3	93210	HP:0002521	Hypsarrhythmia
OMIM:616025	PGAP3	93210	HP:0001263	Global developmental delay
OMIM:616025	PGAP3	93210	HP:0000431	Wide nasal bridge
OMIM:616025	PGAP3	93210	HP:0010804	Tented upper lip vermilion
OMIM:616025	PIGL	9487	HP:0001249	Intellectual disability
OMIM:616025	PIGL	9487	HP:0002521	Hypsarrhythmia
OMIM:616025	PIGL	9487	HP:0001263	Global developmental delay
OMIM:616025	PIGL	9487	HP:0000431	Wide nasal bridge
OMIM:616025	PIGL	9487	HP:0010804	Tented upper lip vermilion
ORPHANET:93274	FGFR3	2261	HP:0002084	Encephalocele
ORPHANET:93274	FGFR3	2261	HP:0010306	Short thorax
ORPHANET:93274	FGFR3	2261	HP:0000956	Acanthosis nigricans
ORPHANET:93274	FGFR3	2261	HP:0002269	Abnormality of neuronal migration
ORPHANET:93274	FGFR3	2261	HP:0000926	Platyspondyly
ORPHANET:93274	FGFR3	2261	HP:0002119	Ventriculomegaly
ORPHANET:93274	FGFR3	2261	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:93274	FGFR3	2261	HP:0000944	Abnormality of the metaphyses
ORPHANET:93274	FGFR3	2261	HP:0000774	Narrow chest
ORPHANET:93274	FGFR3	2261	HP:0001376	Limitation of joint mobility
ORPHANET:93274	FGFR3	2261	HP:0000272	Malar flattening
ORPHANET:93274	FGFR3	2261	HP:0004322	Short stature
ORPHANET:93274	FGFR3	2261	HP:0002808	Kyphosis
ORPHANET:93274	FGFR3	2261	HP:0000520	Proptosis
ORPHANET:93274	FGFR3	2261	HP:0001561	Polyhydramnios
ORPHANET:93274	FGFR3	2261	HP:0000256	Macrocephaly
ORPHANET:93274	FGFR3	2261	HP:0001631	Atria septal defect
ORPHANET:93274	FGFR3	2261	HP:0005280	Depressed nasal bridge
ORPHANET:93274	FGFR3	2261	HP:0100543	Cognitive impairment
ORPHANET:93274	FGFR3	2261	HP:0001156	Brachydactyly syndrome
ORPHANET:93274	FGFR3	2261	HP:0001360	Holoprosencephaly
ORPHANET:93274	FGFR3	2261	HP:0000365	Hearing impairment
ORPHANET:93274	FGFR3	2261	HP:0000238	Hydrocephalus
ORPHANET:93274	FGFR3	2261	HP:0001643	Patent ductus arteriosus
ORPHANET:93274	FGFR3	2261	HP:0001250	Seizures
ORPHANET:93274	FGFR3	2261	HP:0002093	Respiratory insufficiency
ORPHANET:93274	FGFR3	2261	HP:0000077	Abnormality of the kidney
ORPHANET:93274	FGFR3	2261	HP:0000973	Cutis laxa
ORPHANET:93274	FGFR3	2261	HP:0001252	Muscular hypotonia
ORPHANET:93274	FGFR3	2261	HP:0002652	Skeletal dysplasia
ORPHANET:93274	FGFR3	2261	HP:0009826	Limb undergrowth
ORPHANET:93274	FGFR3	2261	HP:0010880	Increased nuchal translucency
ORPHANET:93274	FGFR3	2261	HP:0002007	Frontal bossing
OMIM:609340	DDHD1	80821	HP:0003487	Babinski sign
OMIM:609340	DDHD1	80821	HP:0002936	Distal sensory impairment
OMIM:609340	DDHD1	80821	HP:0007340	Lower limb muscle weakness
OMIM:609340	DDHD1	80821	HP:0001761	Pes cavus
OMIM:609340	DDHD1	80821	HP:0003677	Slow progression
OMIM:609340	DDHD1	80821	HP:0001347	Hyperreflexia
OMIM:609340	DDHD1	80821	HP:0000007	Autosomal recessive inheritance
OMIM:609340	DDHD1	80821	HP:0002061	Lower limb spasticity
OMIM:609340	DDHD1	80821	HP:0001258	Spastic paraplegia
OMIM:609340	DDHD1	80821	HP:0002355	Difficulty walking
OMIM:609340	DDHD1	80821	HP:0003477	Peripheral axonal neuropathy
OMIM:609340	DDHD1	80821	HP:0002650	Scoliosis
OMIM:609340	DDHD1	80821	HP:0003621	Juvenile onset
OMIM:601414	RLBP1	6017	HP:0008043	Retinal arteriolar constriction
OMIM:601414	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:601414	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:601414	RLBP1	6017	HP:0000575	Scotoma
OMIM:601414	RLBP1	6017	HP:0007987	Progressive visual field defects
OMIM:601414	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:601414	SPATA7	55812	HP:0008043	Retinal arteriolar constriction
OMIM:601414	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:601414	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:601414	SPATA7	55812	HP:0000575	Scotoma
OMIM:601414	SPATA7	55812	HP:0007987	Progressive visual field defects
OMIM:601414	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:601414	ARL6	84100	HP:0008043	Retinal arteriolar constriction
OMIM:601414	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:601414	ARL6	84100	HP:0000662	Nyctalopia
OMIM:601414	ARL6	84100	HP:0000575	Scotoma
OMIM:601414	ARL6	84100	HP:0007987	Progressive visual field defects
OMIM:601414	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:601414	CERKL	375298	HP:0008043	Retinal arteriolar constriction
OMIM:601414	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:601414	CERKL	375298	HP:0000662	Nyctalopia
OMIM:601414	CERKL	375298	HP:0000575	Scotoma
OMIM:601414	CERKL	375298	HP:0007987	Progressive visual field defects
OMIM:601414	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PRPF31	26121	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:601414	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:601414	PRPF31	26121	HP:0000575	Scotoma
OMIM:601414	PRPF31	26121	HP:0007987	Progressive visual field defects
OMIM:601414	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:601414	TTC8	123016	HP:0008043	Retinal arteriolar constriction
OMIM:601414	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:601414	TTC8	123016	HP:0000662	Nyctalopia
OMIM:601414	TTC8	123016	HP:0000575	Scotoma
OMIM:601414	TTC8	123016	HP:0007987	Progressive visual field defects
OMIM:601414	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PROM1	8842	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:601414	PROM1	8842	HP:0000662	Nyctalopia
OMIM:601414	PROM1	8842	HP:0000575	Scotoma
OMIM:601414	PROM1	8842	HP:0007987	Progressive visual field defects
OMIM:601414	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:601414	LRAT	9227	HP:0008043	Retinal arteriolar constriction
OMIM:601414	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:601414	LRAT	9227	HP:0000662	Nyctalopia
OMIM:601414	LRAT	9227	HP:0000575	Scotoma
OMIM:601414	LRAT	9227	HP:0007987	Progressive visual field defects
OMIM:601414	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:601414	IFT140	9742	HP:0008043	Retinal arteriolar constriction
OMIM:601414	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:601414	IFT140	9742	HP:0000662	Nyctalopia
OMIM:601414	IFT140	9742	HP:0000575	Scotoma
OMIM:601414	IFT140	9742	HP:0007987	Progressive visual field defects
OMIM:601414	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:601414	BEST1	7439	HP:0008043	Retinal arteriolar constriction
OMIM:601414	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:601414	BEST1	7439	HP:0000662	Nyctalopia
OMIM:601414	BEST1	7439	HP:0000575	Scotoma
OMIM:601414	BEST1	7439	HP:0007987	Progressive visual field defects
OMIM:601414	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:601414	NEK2	4751	HP:0008043	Retinal arteriolar constriction
OMIM:601414	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:601414	NEK2	4751	HP:0000662	Nyctalopia
OMIM:601414	NEK2	4751	HP:0000575	Scotoma
OMIM:601414	NEK2	4751	HP:0007987	Progressive visual field defects
OMIM:601414	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:601414	ARL2BP	23568	HP:0008043	Retinal arteriolar constriction
OMIM:601414	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:601414	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:601414	ARL2BP	23568	HP:0000575	Scotoma
OMIM:601414	ARL2BP	23568	HP:0007987	Progressive visual field defects
OMIM:601414	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:601414	NR2E3	10002	HP:0008043	Retinal arteriolar constriction
OMIM:601414	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:601414	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:601414	NR2E3	10002	HP:0000575	Scotoma
OMIM:601414	NR2E3	10002	HP:0007987	Progressive visual field defects
OMIM:601414	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:601414	EYS	346007	HP:0008043	Retinal arteriolar constriction
OMIM:601414	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:601414	EYS	346007	HP:0000662	Nyctalopia
OMIM:601414	EYS	346007	HP:0000575	Scotoma
OMIM:601414	EYS	346007	HP:0007987	Progressive visual field defects
OMIM:601414	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:601414	MAK	4117	HP:0008043	Retinal arteriolar constriction
OMIM:601414	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:601414	MAK	4117	HP:0000662	Nyctalopia
OMIM:601414	MAK	4117	HP:0000575	Scotoma
OMIM:601414	MAK	4117	HP:0007987	Progressive visual field defects
OMIM:601414	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:601414	SAG	6295	HP:0008043	Retinal arteriolar constriction
OMIM:601414	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:601414	SAG	6295	HP:0000662	Nyctalopia
OMIM:601414	SAG	6295	HP:0000575	Scotoma
OMIM:601414	SAG	6295	HP:0007987	Progressive visual field defects
OMIM:601414	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:601414	ABCA4	24	HP:0008043	Retinal arteriolar constriction
OMIM:601414	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:601414	ABCA4	24	HP:0000662	Nyctalopia
OMIM:601414	ABCA4	24	HP:0000575	Scotoma
OMIM:601414	ABCA4	24	HP:0007987	Progressive visual field defects
OMIM:601414	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PDE6A	5145	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:601414	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:601414	PDE6A	5145	HP:0000575	Scotoma
OMIM:601414	PDE6A	5145	HP:0007987	Progressive visual field defects
OMIM:601414	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PDE6G	5148	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:601414	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:601414	PDE6G	5148	HP:0000575	Scotoma
OMIM:601414	PDE6G	5148	HP:0007987	Progressive visual field defects
OMIM:601414	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:601414	IMPDH1	3614	HP:0008043	Retinal arteriolar constriction
OMIM:601414	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:601414	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:601414	IMPDH1	3614	HP:0000575	Scotoma
OMIM:601414	IMPDH1	3614	HP:0007987	Progressive visual field defects
OMIM:601414	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:601414	OFD1	8481	HP:0008043	Retinal arteriolar constriction
OMIM:601414	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:601414	OFD1	8481	HP:0000662	Nyctalopia
OMIM:601414	OFD1	8481	HP:0000575	Scotoma
OMIM:601414	OFD1	8481	HP:0007987	Progressive visual field defects
OMIM:601414	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:601414	GUCA1B	2979	HP:0008043	Retinal arteriolar constriction
OMIM:601414	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:601414	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:601414	GUCA1B	2979	HP:0000575	Scotoma
OMIM:601414	GUCA1B	2979	HP:0007987	Progressive visual field defects
OMIM:601414	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:601414	NRL	4901	HP:0008043	Retinal arteriolar constriction
OMIM:601414	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:601414	NRL	4901	HP:0000662	Nyctalopia
OMIM:601414	NRL	4901	HP:0000575	Scotoma
OMIM:601414	NRL	4901	HP:0007987	Progressive visual field defects
OMIM:601414	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PDE6B	5158	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:601414	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:601414	PDE6B	5158	HP:0000575	Scotoma
OMIM:601414	PDE6B	5158	HP:0007987	Progressive visual field defects
OMIM:601414	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:601414	KLHL7	55975	HP:0008043	Retinal arteriolar constriction
OMIM:601414	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:601414	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:601414	KLHL7	55975	HP:0000575	Scotoma
OMIM:601414	KLHL7	55975	HP:0007987	Progressive visual field defects
OMIM:601414	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PRPF4	9128	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:601414	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:601414	PRPF4	9128	HP:0000575	Scotoma
OMIM:601414	PRPF4	9128	HP:0007987	Progressive visual field defects
OMIM:601414	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PRPF3	9129	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:601414	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:601414	PRPF3	9129	HP:0000575	Scotoma
OMIM:601414	PRPF3	9129	HP:0007987	Progressive visual field defects
OMIM:601414	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:601414	FAM161A	84140	HP:0008043	Retinal arteriolar constriction
OMIM:601414	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:601414	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:601414	FAM161A	84140	HP:0000575	Scotoma
OMIM:601414	FAM161A	84140	HP:0007987	Progressive visual field defects
OMIM:601414	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:601414	IFT172	26160	HP:0008043	Retinal arteriolar constriction
OMIM:601414	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:601414	IFT172	26160	HP:0000662	Nyctalopia
OMIM:601414	IFT172	26160	HP:0000575	Scotoma
OMIM:601414	IFT172	26160	HP:0007987	Progressive visual field defects
OMIM:601414	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:601414	KIZ	55857	HP:0008043	Retinal arteriolar constriction
OMIM:601414	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:601414	KIZ	55857	HP:0000662	Nyctalopia
OMIM:601414	KIZ	55857	HP:0000575	Scotoma
OMIM:601414	KIZ	55857	HP:0007987	Progressive visual field defects
OMIM:601414	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:601414	CDHR1	92211	HP:0008043	Retinal arteriolar constriction
OMIM:601414	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:601414	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:601414	CDHR1	92211	HP:0000575	Scotoma
OMIM:601414	CDHR1	92211	HP:0007987	Progressive visual field defects
OMIM:601414	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:601414	ZNF408	79797	HP:0008043	Retinal arteriolar constriction
OMIM:601414	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:601414	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:601414	ZNF408	79797	HP:0000575	Scotoma
OMIM:601414	ZNF408	79797	HP:0007987	Progressive visual field defects
OMIM:601414	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:601414	RBP3	5949	HP:0008043	Retinal arteriolar constriction
OMIM:601414	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:601414	RBP3	5949	HP:0000662	Nyctalopia
OMIM:601414	RBP3	5949	HP:0000575	Scotoma
OMIM:601414	RBP3	5949	HP:0007987	Progressive visual field defects
OMIM:601414	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:601414	HGSNAT	138050	HP:0008043	Retinal arteriolar constriction
OMIM:601414	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:601414	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:601414	HGSNAT	138050	HP:0000575	Scotoma
OMIM:601414	HGSNAT	138050	HP:0007987	Progressive visual field defects
OMIM:601414	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:601414	FSCN2	25794	HP:0008043	Retinal arteriolar constriction
OMIM:601414	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:601414	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:601414	FSCN2	25794	HP:0000575	Scotoma
OMIM:601414	FSCN2	25794	HP:0007987	Progressive visual field defects
OMIM:601414	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PRCD	768206	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:601414	PRCD	768206	HP:0000662	Nyctalopia
OMIM:601414	PRCD	768206	HP:0000575	Scotoma
OMIM:601414	PRCD	768206	HP:0007987	Progressive visual field defects
OMIM:601414	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:601414	BBS2	583	HP:0008043	Retinal arteriolar constriction
OMIM:601414	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:601414	BBS2	583	HP:0000662	Nyctalopia
OMIM:601414	BBS2	583	HP:0000575	Scotoma
OMIM:601414	BBS2	583	HP:0007987	Progressive visual field defects
OMIM:601414	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:601414	RDH12	145226	HP:0008043	Retinal arteriolar constriction
OMIM:601414	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:601414	RDH12	145226	HP:0000662	Nyctalopia
OMIM:601414	RDH12	145226	HP:0000575	Scotoma
OMIM:601414	RDH12	145226	HP:0007987	Progressive visual field defects
OMIM:601414	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PRPH2	5961	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:601414	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:601414	PRPH2	5961	HP:0000575	Scotoma
OMIM:601414	PRPH2	5961	HP:0007987	Progressive visual field defects
OMIM:601414	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:601414	DHDDS	79947	HP:0008043	Retinal arteriolar constriction
OMIM:601414	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:601414	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:601414	DHDDS	79947	HP:0000575	Scotoma
OMIM:601414	DHDDS	79947	HP:0007987	Progressive visual field defects
OMIM:601414	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:601414	ROM1	6094	HP:0008043	Retinal arteriolar constriction
OMIM:601414	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:601414	ROM1	6094	HP:0000662	Nyctalopia
OMIM:601414	ROM1	6094	HP:0000575	Scotoma
OMIM:601414	ROM1	6094	HP:0007987	Progressive visual field defects
OMIM:601414	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:601414	C2ORF71	388939	HP:0008043	Retinal arteriolar constriction
OMIM:601414	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:601414	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:601414	C2ORF71	388939	HP:0000575	Scotoma
OMIM:601414	C2ORF71	388939	HP:0007987	Progressive visual field defects
OMIM:601414	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:601414	RP9	6100	HP:0008043	Retinal arteriolar constriction
OMIM:601414	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:601414	RP9	6100	HP:0000662	Nyctalopia
OMIM:601414	RP9	6100	HP:0000575	Scotoma
OMIM:601414	RP9	6100	HP:0007987	Progressive visual field defects
OMIM:601414	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PRPF6	24148	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:601414	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:601414	PRPF6	24148	HP:0000575	Scotoma
OMIM:601414	PRPF6	24148	HP:0007987	Progressive visual field defects
OMIM:601414	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:601414	RP1	6101	HP:0008043	Retinal arteriolar constriction
OMIM:601414	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:601414	RP1	6101	HP:0000662	Nyctalopia
OMIM:601414	RP1	6101	HP:0000575	Scotoma
OMIM:601414	RP1	6101	HP:0007987	Progressive visual field defects
OMIM:601414	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:601414	RP2	6102	HP:0008043	Retinal arteriolar constriction
OMIM:601414	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:601414	RP2	6102	HP:0000662	Nyctalopia
OMIM:601414	RP2	6102	HP:0000575	Scotoma
OMIM:601414	RP2	6102	HP:0007987	Progressive visual field defects
OMIM:601414	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:601414	RPGR	6103	HP:0008043	Retinal arteriolar constriction
OMIM:601414	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:601414	RPGR	6103	HP:0000662	Nyctalopia
OMIM:601414	RPGR	6103	HP:0000575	Scotoma
OMIM:601414	RPGR	6103	HP:0007987	Progressive visual field defects
OMIM:601414	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:601414	SEMA4A	64218	HP:0008043	Retinal arteriolar constriction
OMIM:601414	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:601414	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:601414	SEMA4A	64218	HP:0000575	Scotoma
OMIM:601414	SEMA4A	64218	HP:0007987	Progressive visual field defects
OMIM:601414	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:601414	C8ORF37	157657	HP:0008043	Retinal arteriolar constriction
OMIM:601414	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:601414	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:601414	C8ORF37	157657	HP:0000575	Scotoma
OMIM:601414	C8ORF37	157657	HP:0007987	Progressive visual field defects
OMIM:601414	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:601414	IDH3B	3420	HP:0008043	Retinal arteriolar constriction
OMIM:601414	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:601414	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:601414	IDH3B	3420	HP:0000575	Scotoma
OMIM:601414	IDH3B	3420	HP:0007987	Progressive visual field defects
OMIM:601414	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:601414	MERTK	10461	HP:0008043	Retinal arteriolar constriction
OMIM:601414	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:601414	MERTK	10461	HP:0000662	Nyctalopia
OMIM:601414	MERTK	10461	HP:0000575	Scotoma
OMIM:601414	MERTK	10461	HP:0007987	Progressive visual field defects
OMIM:601414	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:601414	PRPF8	10594	HP:0008043	Retinal arteriolar constriction
OMIM:601414	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:601414	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:601414	PRPF8	10594	HP:0000575	Scotoma
OMIM:601414	PRPF8	10594	HP:0007987	Progressive visual field defects
OMIM:601414	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:601414	TOPORS	10210	HP:0008043	Retinal arteriolar constriction
OMIM:601414	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:601414	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:601414	TOPORS	10210	HP:0000575	Scotoma
OMIM:601414	TOPORS	10210	HP:0007987	Progressive visual field defects
OMIM:601414	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:601414	USH2A	7399	HP:0008043	Retinal arteriolar constriction
OMIM:601414	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:601414	USH2A	7399	HP:0000662	Nyctalopia
OMIM:601414	USH2A	7399	HP:0000575	Scotoma
OMIM:601414	USH2A	7399	HP:0007987	Progressive visual field defects
OMIM:601414	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:601414	RPE65	6121	HP:0008043	Retinal arteriolar constriction
OMIM:601414	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:601414	RPE65	6121	HP:0000662	Nyctalopia
OMIM:601414	RPE65	6121	HP:0000575	Scotoma
OMIM:601414	RPE65	6121	HP:0007987	Progressive visual field defects
OMIM:601414	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:601414	CLRN1	7401	HP:0008043	Retinal arteriolar constriction
OMIM:601414	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:601414	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:601414	CLRN1	7401	HP:0000575	Scotoma
OMIM:601414	CLRN1	7401	HP:0007987	Progressive visual field defects
OMIM:601414	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:601414	CNGB1	1258	HP:0008043	Retinal arteriolar constriction
OMIM:601414	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:601414	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:601414	CNGB1	1258	HP:0000575	Scotoma
OMIM:601414	CNGB1	1258	HP:0007987	Progressive visual field defects
OMIM:601414	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:601414	RGR	5995	HP:0008043	Retinal arteriolar constriction
OMIM:601414	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:601414	RGR	5995	HP:0000662	Nyctalopia
OMIM:601414	RGR	5995	HP:0000575	Scotoma
OMIM:601414	RGR	5995	HP:0007987	Progressive visual field defects
OMIM:601414	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:601414	CNGA1	1259	HP:0008043	Retinal arteriolar constriction
OMIM:601414	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:601414	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:601414	CNGA1	1259	HP:0000575	Scotoma
OMIM:601414	CNGA1	1259	HP:0007987	Progressive visual field defects
OMIM:601414	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:601414	TUB	7275	HP:0008043	Retinal arteriolar constriction
OMIM:601414	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:601414	TUB	7275	HP:0000662	Nyctalopia
OMIM:601414	TUB	7275	HP:0000575	Scotoma
OMIM:601414	TUB	7275	HP:0007987	Progressive visual field defects
OMIM:601414	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:601414	SNRNP200	23020	HP:0008043	Retinal arteriolar constriction
OMIM:601414	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:601414	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:601414	SNRNP200	23020	HP:0000575	Scotoma
OMIM:601414	SNRNP200	23020	HP:0007987	Progressive visual field defects
OMIM:601414	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:601414	SLC7A14	57709	HP:0008043	Retinal arteriolar constriction
OMIM:601414	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:601414	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:601414	SLC7A14	57709	HP:0000575	Scotoma
OMIM:601414	SLC7A14	57709	HP:0007987	Progressive visual field defects
OMIM:601414	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:601414	TULP1	7287	HP:0008043	Retinal arteriolar constriction
OMIM:601414	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:601414	TULP1	7287	HP:0000662	Nyctalopia
OMIM:601414	TULP1	7287	HP:0000575	Scotoma
OMIM:601414	TULP1	7287	HP:0007987	Progressive visual field defects
OMIM:601414	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:601414	RHO	6010	HP:0008043	Retinal arteriolar constriction
OMIM:601414	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:601414	RHO	6010	HP:0000662	Nyctalopia
OMIM:601414	RHO	6010	HP:0000575	Scotoma
OMIM:601414	RHO	6010	HP:0007987	Progressive visual field defects
OMIM:601414	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:601414	CA4	762	HP:0008043	Retinal arteriolar constriction
OMIM:601414	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:601414	CA4	762	HP:0000662	Nyctalopia
OMIM:601414	CA4	762	HP:0000575	Scotoma
OMIM:601414	CA4	762	HP:0007987	Progressive visual field defects
OMIM:601414	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:601414	CRB1	23418	HP:0008043	Retinal arteriolar constriction
OMIM:601414	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:601414	CRB1	23418	HP:0000662	Nyctalopia
OMIM:601414	CRB1	23418	HP:0000575	Scotoma
OMIM:601414	CRB1	23418	HP:0007987	Progressive visual field defects
OMIM:601414	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:601414	IMPG2	50939	HP:0008043	Retinal arteriolar constriction
OMIM:601414	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:601414	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:601414	IMPG2	50939	HP:0000575	Scotoma
OMIM:601414	IMPG2	50939	HP:0007987	Progressive visual field defects
OMIM:601414	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:601414	ZNF513	130557	HP:0008043	Retinal arteriolar constriction
OMIM:601414	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:601414	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:601414	ZNF513	130557	HP:0000575	Scotoma
OMIM:601414	ZNF513	130557	HP:0007987	Progressive visual field defects
OMIM:601414	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:601414	CRX	1406	HP:0008043	Retinal arteriolar constriction
OMIM:601414	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:601414	CRX	1406	HP:0000662	Nyctalopia
OMIM:601414	CRX	1406	HP:0000575	Scotoma
OMIM:601414	CRX	1406	HP:0007987	Progressive visual field defects
OMIM:601414	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:305600	PORCN	64840	HP:0000889	Abnormality of the clavicle
OMIM:305600	PORCN	64840	HP:0045026	Abnormality of the mediastinum
OMIM:305600	PORCN	64840	HP:0001770	Toe syndactyly
OMIM:305600	PORCN	64840	HP:0001388	Joint laxity
OMIM:305600	PORCN	64840	HP:0002299	Brittle hair
OMIM:305600	PORCN	64840	HP:0003298	Spina bifida occulta
OMIM:305600	PORCN	64840	HP:0000446	Narrow nasal bridge
OMIM:305600	PORCN	64840	HP:0000776	Congenital diaphragmatic hernia
OMIM:305600	PORCN	64840	HP:0100490	Camptodactyly of finger
OMIM:305600	PORCN	64840	HP:0000668	Hypodontia
OMIM:305600	PORCN	64840	HP:0001537	Umbilical hernia
OMIM:305600	PORCN	64840	HP:0009804	Reduced number of teeth
OMIM:305600	PORCN	64840	HP:0001423	X-linked dominant inheritance
OMIM:305600	PORCN	64840	HP:0000204	Cleft upper lip
OMIM:305600	PORCN	64840	HP:0000307	Pointed chin
OMIM:305600	PORCN	64840	HP:0000486	Strabismus
OMIM:305600	PORCN	64840	HP:0002164	Nail dysplasia
OMIM:305600	PORCN	64840	HP:0002557	Hypoplastic nipples
OMIM:305600	PORCN	64840	HP:0009124	Abnormality of adipose tissue
OMIM:305600	PORCN	64840	HP:0000085	Horseshoe kidney
OMIM:305600	PORCN	64840	HP:0000238	Hydrocephalus
OMIM:305600	PORCN	64840	HP:0001539	Omphalocele
OMIM:305600	PORCN	64840	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:305600	PORCN	64840	HP:0008678	Renal hypoplasia/aplasia
OMIM:305600	PORCN	64840	HP:0001829	Foot polydactyly
OMIM:305600	PORCN	64840	HP:0000684	Delayed eruption of teeth
OMIM:305600	PORCN	64840	HP:0010049	Short metacarpal
OMIM:305600	PORCN	64840	HP:0000682	Abnormality of dental enamel
OMIM:305600	PORCN	64840	HP:0000689	Dental malocclusion
OMIM:305600	PORCN	64840	HP:0001034	Hypermelanotic macule
OMIM:305600	PORCN	64840	HP:0008070	Sparse hair
OMIM:305600	PORCN	64840	HP:0200043	Verrucae
OMIM:305600	PORCN	64840	HP:0002414	Spina bifida
OMIM:305600	PORCN	64840	HP:0001817	Absent fingernail
OMIM:305600	PORCN	64840	HP:0000402	Stenosis of the external auditory canal
OMIM:305600	PORCN	64840	HP:0001600	Abnormality of the larynx
OMIM:305600	PORCN	64840	HP:0000252	Microcephaly
OMIM:305600	PORCN	64840	HP:0001171	Split hand
OMIM:305600	PORCN	64840	HP:0000648	Optic atrophy
OMIM:305600	PORCN	64840	HP:0001643	Patent ductus arteriosus
OMIM:305600	PORCN	64840	HP:0004322	Short stature
OMIM:305600	PORCN	64840	HP:0002027	Abdominal pain
OMIM:305600	PORCN	64840	HP:0004334	Dermal atrophy
OMIM:305600	PORCN	64840	HP:0004930	Abnormality of the pulmonary vasculature
OMIM:305600	PORCN	64840	HP:0001162	Postaxial hand polydactyly
OMIM:305600	PORCN	64840	HP:0001083	Ectopia lentis
OMIM:305600	PORCN	64840	HP:0000568	Microphthalmia
OMIM:305600	PORCN	64840	HP:0000528	Anophthalmia
OMIM:305600	PORCN	64840	HP:0006482	Abnormality of dental morphology
OMIM:305600	PORCN	64840	HP:0007759	Opacification of the corneal stroma
OMIM:305600	PORCN	64840	HP:0002566	Intestinal malrotation
OMIM:305600	PORCN	64840	HP:0010622	Neoplasm of the skeletal system
OMIM:305600	PORCN	64840	HP:0009381	Short finger
OMIM:305600	PORCN	64840	HP:0000377	Abnormality of the pinna
OMIM:305600	PORCN	64840	HP:0100542	Abnormal localization of kidney
OMIM:305600	PORCN	64840	HP:0100867	Duodenal stenosis
OMIM:305600	PORCN	64840	HP:0000368	Low-set, posteriorly rotated ears
OMIM:305600	PORCN	64840	HP:0000455	Broad nasal tip
OMIM:305600	PORCN	64840	HP:0006297	Hypoplasia of dental enamel
OMIM:305600	PORCN	64840	HP:0000567	Chorioretinal coloboma
OMIM:305600	PORCN	64840	HP:0100543	Cognitive impairment
OMIM:305600	PORCN	64840	HP:0001249	Intellectual disability
OMIM:305600	PORCN	64840	HP:0001802	Absent toenail
OMIM:305600	PORCN	64840	HP:0000369	Low-set ears
OMIM:305600	PORCN	64840	HP:0001161	Hand polydactyly
OMIM:305600	PORCN	64840	HP:0001374	Congenital hip dislocation
OMIM:305600	PORCN	64840	HP:0007663	Reduced visual acuity
OMIM:305600	PORCN	64840	HP:0010743	Short metatarsal
OMIM:305600	PORCN	64840	HP:0000003	Multicystic kidney dysplasia
OMIM:305600	PORCN	64840	HP:0009803	Short phalanx of finger
OMIM:305600	PORCN	64840	HP:0000028	Cryptorchidism
OMIM:305600	PORCN	64840	HP:0000772	Abnormality of the ribs
OMIM:305600	PORCN	64840	HP:0002650	Scoliosis
OMIM:305600	PORCN	64840	HP:0000324	Facial asymmetry
OMIM:305600	PORCN	64840	HP:0000023	Inguinal hernia
OMIM:305600	PORCN	64840	HP:0005930	Abnormality of epiphysis morphology
OMIM:305600	PORCN	64840	HP:0000175	Cleft palate
OMIM:305600	PORCN	64840	HP:0000126	Hydronephrosis
OMIM:305600	PORCN	64840	HP:0000963	Thin skin
OMIM:305600	PORCN	64840	HP:0001156	Brachydactyly syndrome
OMIM:305600	PORCN	64840	HP:0001629	Ventricular septal defect
OMIM:305600	PORCN	64840	HP:0006101	Finger syndactyly
OMIM:305600	PORCN	64840	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:305600	PORCN	64840	HP:0001597	Abnormality of the nail
OMIM:305600	PORCN	64840	HP:0000073	Ureteral duplication
OMIM:305600	PORCN	64840	HP:0001139	Choroideremia
OMIM:305600	PORCN	64840	HP:0000773	Short ribs
OMIM:305600	PORCN	64840	HP:0002558	Supernumerary nipple
OMIM:305600	PORCN	64840	HP:0000505	Visual impairment
OMIM:305600	PORCN	64840	HP:0100585	Telangiectasia of the skin
OMIM:305600	PORCN	64840	HP:0002308	Arnold-Chiari malformation
OMIM:305600	PORCN	64840	HP:0000639	Nystagmus
OMIM:305600	PORCN	64840	HP:0000612	Iris coloboma
OMIM:305600	PORCN	64840	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:305600	PORCN	64840	HP:0001009	Telangiectasia
OMIM:305600	PORCN	64840	HP:0001274	Agenesis of corpus callosum
OMIM:305600	PORCN	64840	HP:0001596	Alopecia
OMIM:616351	COL4A3BP	10087	HP:0005484	Postnatal microcephaly
OMIM:616351	COL4A3BP	10087	HP:0000319	Smooth philtrum
OMIM:616351	COL4A3BP	10087	HP:0002212	Curly hair
OMIM:616351	COL4A3BP	10087	HP:0006610	Wide intermamillary distance
OMIM:616351	COL4A3BP	10087	HP:0000006	Autosomal dominant inheritance
OMIM:616351	COL4A3BP	10087	HP:0002069	Generalized tonic-clonic seizures
OMIM:616351	COL4A3BP	10087	HP:0000687	Widely spaced teeth
OMIM:616351	COL4A3BP	10087	HP:0000286	Epicanthus
OMIM:616351	COL4A3BP	10087	HP:0002208	Coarse hair
OMIM:616351	COL4A3BP	10087	HP:0001773	Short foot
OMIM:616351	COL4A3BP	10087	HP:0000582	Upslanted palpebral fissure
OMIM:616351	COL4A3BP	10087	HP:0000733	Stereotypic behavior
OMIM:616351	COL4A3BP	10087	HP:0001263	Global developmental delay
OMIM:616351	COL4A3BP	10087	HP:0004691	2-3 toe syndactyly
OMIM:616351	COL4A3BP	10087	HP:0008936	Muscular hypotonia of the trunk
OMIM:616351	COL4A3BP	10087	HP:0100704	Cortical visual impairment
OMIM:616351	COL4A3BP	10087	HP:0002307	Drooling
OMIM:616351	COL4A3BP	10087	HP:0001249	Intellectual disability
OMIM:616351	COL4A3BP	10087	HP:0001562	Oligohydramnios
OMIM:616351	COL4A3BP	10087	HP:0000463	Anteverted nares
OMIM:616351	COL4A3BP	10087	HP:0000664	Synophrys
OMIM:616351	COL4A3BP	10087	HP:0000365	Hearing impairment
OMIM:268300	ESCO2	157570	HP:0000028	Cryptorchidism
OMIM:268300	ESCO2	157570	HP:0000592	Blue sclerae
OMIM:268300	ESCO2	157570	HP:0006824	Cranial nerve paralysis
OMIM:268300	ESCO2	157570	HP:0000252	Microcephaly
OMIM:268300	ESCO2	157570	HP:0001163	Abnormality of the metacarpal bones
OMIM:268300	ESCO2	157570	HP:0006466	Ankle contracture
OMIM:268300	ESCO2	157570	HP:0000387	Absent earlobe
OMIM:268300	ESCO2	157570	HP:0000568	Microphthalmia
OMIM:268300	ESCO2	157570	HP:0000494	Downslanted palpebral fissures
OMIM:268300	ESCO2	157570	HP:0000518	Cataract
OMIM:268300	ESCO2	157570	HP:0000476	Cystic hygroma
OMIM:268300	ESCO2	157570	HP:0000040	Long penis
OMIM:268300	ESCO2	157570	HP:0001080	Biliary tract abnormality
OMIM:268300	ESCO2	157570	HP:0001631	Atria septal defect
OMIM:268300	ESCO2	157570	HP:0000238	Hydrocephalus
OMIM:268300	ESCO2	157570	HP:0000218	High palate
OMIM:268300	ESCO2	157570	HP:0000520	Proptosis
OMIM:268300	ESCO2	157570	HP:0000047	Hypospadias
OMIM:268300	ESCO2	157570	HP:0000369	Low-set ears
OMIM:268300	ESCO2	157570	HP:0006380	Knee flexion contracture
OMIM:268300	ESCO2	157570	HP:0001249	Intellectual disability
OMIM:268300	ESCO2	157570	HP:0000113	Polycystic kidney dysplasia
OMIM:268300	ESCO2	157570	HP:0008070	Sparse hair
OMIM:268300	ESCO2	157570	HP:0030084	Clinodactyly
OMIM:268300	ESCO2	157570	HP:0000957	Cafe-au-lait spot
OMIM:268300	ESCO2	157570	HP:0000085	Horseshoe kidney
OMIM:268300	ESCO2	157570	HP:0001156	Brachydactyly syndrome
OMIM:268300	ESCO2	157570	HP:0003826	Stillbirth
OMIM:268300	ESCO2	157570	HP:0000430	Underdeveloped nasal alae
OMIM:268300	ESCO2	157570	HP:0008897	Postnatal growth retardation
OMIM:268300	ESCO2	157570	HP:0000625	Cleft eyelid
OMIM:268300	ESCO2	157570	HP:0000316	Hypertelorism
OMIM:268300	ESCO2	157570	HP:0000358	Posteriorly rotated ears
OMIM:268300	ESCO2	157570	HP:0002987	Elbow flexion contracture
OMIM:268300	ESCO2	157570	HP:0001363	Craniosynostosis
OMIM:268300	ESCO2	157570	HP:0000204	Cleft upper lip
OMIM:268300	ESCO2	157570	HP:0000248	Brachycephaly
OMIM:268300	ESCO2	157570	HP:0001561	Polyhydramnios
OMIM:268300	ESCO2	157570	HP:0000272	Malar flattening
OMIM:268300	ESCO2	157570	HP:0000470	Short neck
OMIM:268300	ESCO2	157570	HP:0000431	Wide nasal bridge
OMIM:268300	ESCO2	157570	HP:0007759	Opacification of the corneal stroma
OMIM:268300	ESCO2	157570	HP:0000175	Cleft palate
OMIM:268300	ESCO2	157570	HP:0001643	Patent ductus arteriosus
OMIM:268300	ESCO2	157570	HP:0001159	Syndactyly
OMIM:268300	ESCO2	157570	HP:0009466	Radial deviation of finger
OMIM:268300	ESCO2	157570	HP:0000347	Micrognathia
OMIM:268300	ESCO2	157570	HP:0000007	Autosomal recessive inheritance
OMIM:268300	ESCO2	157570	HP:0000813	Bicornuate uterus
OMIM:268300	ESCO2	157570	HP:0001629	Ventricular septal defect
OMIM:268300	ESCO2	157570	HP:0000057	Clitoromegaly
OMIM:304790	FOXP3	50943	HP:0001419	X-linked recessive inheritance
OMIM:304790	FOXP3	50943	HP:0000821	Hypothyroidism
OMIM:304790	FOXP3	50943	HP:0001880	Eosinophilia
OMIM:304790	FOXP3	50943	HP:0000964	Eczema
OMIM:304790	FOXP3	50943	HP:0002716	Lymphadenopathy
OMIM:304790	FOXP3	50943	HP:0001873	Thrombocytopenia
OMIM:304790	FOXP3	50943	HP:0011473	Villous atrophy
OMIM:304790	FOXP3	50943	HP:0002014	Diarrhea
OMIM:601390	FAT4	79633	HP:0002652	Skeletal dysplasia
OMIM:601390	FAT4	79633	HP:0000316	Hypertelorism
OMIM:601390	FAT4	79633	HP:0000007	Autosomal recessive inheritance
OMIM:601390	FAT4	79633	HP:0000089	Renal hypoplasia
OMIM:601390	FAT4	79633	HP:0002714	Downturned corners of mouth
OMIM:601390	FAT4	79633	HP:0001388	Joint laxity
OMIM:601390	FAT4	79633	HP:0001302	Pachygyria
OMIM:601390	FAT4	79633	HP:0000894	Short clavicles
OMIM:601390	FAT4	79633	HP:0001249	Intellectual disability
OMIM:601390	FAT4	79633	HP:0000405	Conductive hearing impairment
OMIM:601390	FAT4	79633	HP:0010804	Tented upper lip vermilion
OMIM:601390	FAT4	79633	HP:0000286	Epicanthus
OMIM:601390	FAT4	79633	HP:0000407	Sensorineural hearing impairment
OMIM:601390	FAT4	79633	HP:0000689	Dental malocclusion
OMIM:601390	FAT4	79633	HP:0000413	Atresia of the external auditory canal
OMIM:601390	FAT4	79633	HP:0002650	Scoliosis
OMIM:601390	FAT4	79633	HP:0000272	Malar flattening
OMIM:601390	FAT4	79633	HP:0011968	Feeding difficulties
OMIM:601390	FAT4	79633	HP:0000431	Wide nasal bridge
OMIM:601390	FAT4	79633	HP:0000938	Osteopenia
OMIM:601390	FAT4	79633	HP:0003577	Congenital onset
OMIM:601390	FAT4	79633	HP:0000347	Micrognathia
OMIM:601390	FAT4	79633	HP:0040199	Flat midface
OMIM:601390	FAT4	79633	HP:0012745	Short palpebral fissure
OMIM:601390	FAT4	79633	HP:0001252	Muscular hypotonia
OMIM:601390	FAT4	79633	HP:0001762	Talipes equinovarus
OMIM:601390	FAT4	79633	HP:0000047	Hypospadias
OMIM:601390	FAT4	79633	HP:0000774	Narrow chest
OMIM:601390	FAT4	79633	HP:0000960	Sacral dimple
OMIM:601390	FAT4	79633	HP:0000341	Narrow forehead
OMIM:601390	FAT4	79633	HP:0009879	Cortical gyral simplification
OMIM:601390	FAT4	79633	HP:0000581	Blepharophimosis
OMIM:601390	FAT4	79633	HP:0000218	High palate
OMIM:601390	FAT4	79633	HP:0002079	Hypoplasia of the corpus callosum
OMIM:601390	FAT4	79633	HP:0001510	Growth delay
OMIM:601390	FAT4	79633	HP:0000327	Hypoplasia of the maxilla
OMIM:601390	FAT4	79633	HP:0000508	Ptosis
OMIM:601390	FAT4	79633	HP:0010537	Wide cranial sutures
OMIM:601390	FAT4	79633	HP:0030084	Clinodactyly
OMIM:601390	FAT4	79633	HP:0002023	Anal atresia
OMIM:601390	FAT4	79633	HP:0008551	Microtia
OMIM:601390	FAT4	79633	HP:0010554	Cutaneous finger syndactyly
OMIM:601390	DCHS1	8642	HP:0002652	Skeletal dysplasia
OMIM:601390	DCHS1	8642	HP:0000316	Hypertelorism
OMIM:601390	DCHS1	8642	HP:0000007	Autosomal recessive inheritance
OMIM:601390	DCHS1	8642	HP:0000089	Renal hypoplasia
OMIM:601390	DCHS1	8642	HP:0002714	Downturned corners of mouth
OMIM:601390	DCHS1	8642	HP:0001388	Joint laxity
OMIM:601390	DCHS1	8642	HP:0001302	Pachygyria
OMIM:601390	DCHS1	8642	HP:0000894	Short clavicles
OMIM:601390	DCHS1	8642	HP:0001249	Intellectual disability
OMIM:601390	DCHS1	8642	HP:0000405	Conductive hearing impairment
OMIM:601390	DCHS1	8642	HP:0010804	Tented upper lip vermilion
OMIM:601390	DCHS1	8642	HP:0000286	Epicanthus
OMIM:601390	DCHS1	8642	HP:0000407	Sensorineural hearing impairment
OMIM:601390	DCHS1	8642	HP:0000689	Dental malocclusion
OMIM:601390	DCHS1	8642	HP:0000413	Atresia of the external auditory canal
OMIM:601390	DCHS1	8642	HP:0002650	Scoliosis
OMIM:601390	DCHS1	8642	HP:0000272	Malar flattening
OMIM:601390	DCHS1	8642	HP:0011968	Feeding difficulties
OMIM:601390	DCHS1	8642	HP:0000431	Wide nasal bridge
OMIM:601390	DCHS1	8642	HP:0000938	Osteopenia
OMIM:601390	DCHS1	8642	HP:0003577	Congenital onset
OMIM:601390	DCHS1	8642	HP:0000347	Micrognathia
OMIM:601390	DCHS1	8642	HP:0040199	Flat midface
OMIM:601390	DCHS1	8642	HP:0012745	Short palpebral fissure
OMIM:601390	DCHS1	8642	HP:0001252	Muscular hypotonia
OMIM:601390	DCHS1	8642	HP:0001762	Talipes equinovarus
OMIM:601390	DCHS1	8642	HP:0000047	Hypospadias
OMIM:601390	DCHS1	8642	HP:0000774	Narrow chest
OMIM:601390	DCHS1	8642	HP:0000960	Sacral dimple
OMIM:601390	DCHS1	8642	HP:0000341	Narrow forehead
OMIM:601390	DCHS1	8642	HP:0009879	Cortical gyral simplification
OMIM:601390	DCHS1	8642	HP:0000581	Blepharophimosis
OMIM:601390	DCHS1	8642	HP:0000218	High palate
OMIM:601390	DCHS1	8642	HP:0002079	Hypoplasia of the corpus callosum
OMIM:601390	DCHS1	8642	HP:0001510	Growth delay
OMIM:601390	DCHS1	8642	HP:0000327	Hypoplasia of the maxilla
OMIM:601390	DCHS1	8642	HP:0000508	Ptosis
OMIM:601390	DCHS1	8642	HP:0010537	Wide cranial sutures
OMIM:601390	DCHS1	8642	HP:0030084	Clinodactyly
OMIM:601390	DCHS1	8642	HP:0002023	Anal atresia
OMIM:601390	DCHS1	8642	HP:0008551	Microtia
OMIM:601390	DCHS1	8642	HP:0010554	Cutaneous finger syndactyly
OMIM:608634	HSPB8	26353	HP:0002355	Difficulty walking
OMIM:608634	HSPB8	26353	HP:0003677	Slow progression
OMIM:608634	HSPB8	26353	HP:0003581	Adult onset
OMIM:608634	HSPB8	26353	HP:0009053	Distal lower limb muscle weakness
OMIM:608634	HSPB8	26353	HP:0000006	Autosomal dominant inheritance
OMIM:608634	HSPB8	26353	HP:0003445	EMG: neuropathic changes
OMIM:608634	HSPB8	26353	HP:0009830	Peripheral neuropathy
OMIM:608634	HSPB1	3315	HP:0002355	Difficulty walking
OMIM:608634	HSPB1	3315	HP:0003677	Slow progression
OMIM:608634	HSPB1	3315	HP:0003581	Adult onset
OMIM:608634	HSPB1	3315	HP:0009053	Distal lower limb muscle weakness
OMIM:608634	HSPB1	3315	HP:0000006	Autosomal dominant inheritance
OMIM:608634	HSPB1	3315	HP:0003445	EMG: neuropathic changes
OMIM:608634	HSPB1	3315	HP:0009830	Peripheral neuropathy
OMIM:608634	FBXO38	81545	HP:0002355	Difficulty walking
OMIM:608634	FBXO38	81545	HP:0003677	Slow progression
OMIM:608634	FBXO38	81545	HP:0003581	Adult onset
OMIM:608634	FBXO38	81545	HP:0009053	Distal lower limb muscle weakness
OMIM:608634	FBXO38	81545	HP:0000006	Autosomal dominant inheritance
OMIM:608634	FBXO38	81545	HP:0003445	EMG: neuropathic changes
OMIM:608634	FBXO38	81545	HP:0009830	Peripheral neuropathy
OMIM:608634	HSPB3	8988	HP:0002355	Difficulty walking
OMIM:608634	HSPB3	8988	HP:0003677	Slow progression
OMIM:608634	HSPB3	8988	HP:0003581	Adult onset
OMIM:608634	HSPB3	8988	HP:0009053	Distal lower limb muscle weakness
OMIM:608634	HSPB3	8988	HP:0000006	Autosomal dominant inheritance
OMIM:608634	HSPB3	8988	HP:0003445	EMG: neuropathic changes
OMIM:608634	HSPB3	8988	HP:0009830	Peripheral neuropathy
OMIM:248800	SIL1	64374	HP:0003202	Skeletal muscle atrophy
OMIM:248800	SIL1	64374	HP:0001156	Brachydactyly syndrome
OMIM:248800	SIL1	64374	HP:0002967	Cubitus valgus
OMIM:248800	SIL1	64374	HP:0000486	Strabismus
OMIM:248800	SIL1	64374	HP:0003198	Myopathy
OMIM:248800	SIL1	64374	HP:0001324	Muscle weakness
OMIM:248800	SIL1	64374	HP:0001252	Muscular hypotonia
OMIM:248800	SIL1	64374	HP:0003272	Abnormality of the hip bone
OMIM:248800	SIL1	64374	HP:0000639	Nystagmus
OMIM:248800	SIL1	64374	HP:0000007	Autosomal recessive inheritance
OMIM:248800	SIL1	64374	HP:0003593	Infantile onset
OMIM:248800	SIL1	64374	HP:0002311	Incoordination
OMIM:248800	SIL1	64374	HP:0001315	Reduced tendon reflexes
OMIM:248800	SIL1	64374	HP:0009830	Peripheral neuropathy
OMIM:248800	SIL1	64374	HP:0001257	Spasticity
OMIM:248800	SIL1	64374	HP:0010743	Short metatarsal
OMIM:248800	SIL1	64374	HP:0004322	Short stature
OMIM:248800	SIL1	64374	HP:0000815	Hypergonadotropic hypogonadism
OMIM:248800	SIL1	64374	HP:0002066	Gait ataxia
OMIM:248800	SIL1	64374	HP:0010049	Short metacarpal
OMIM:248800	SIL1	64374	HP:0000078	Abnormality of the genital system
OMIM:248800	SIL1	64374	HP:0002808	Kyphosis
OMIM:248800	SIL1	64374	HP:0000252	Microcephaly
OMIM:248800	SIL1	64374	HP:0001276	Hypertonia
OMIM:248800	SIL1	64374	HP:0000768	Pectus carinatum
OMIM:248800	SIL1	64374	HP:0001371	Flexion contracture
OMIM:248800	SIL1	64374	HP:0003236	Elevated serum creatine phosphokinase
OMIM:248800	SIL1	64374	HP:0001883	Talipes
OMIM:248800	SIL1	64374	HP:0002650	Scoliosis
OMIM:248800	SIL1	64374	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:248800	SIL1	64374	HP:0002070	Limb ataxia
OMIM:248800	SIL1	64374	HP:0100543	Cognitive impairment
OMIM:248800	SIL1	64374	HP:0002673	Coxa valga
OMIM:248800	SIL1	64374	HP:0000518	Cataract
OMIM:248800	SIL1	64374	HP:0002167	Neurological speech impairment
OMIM:248800	SIL1	64374	HP:0001163	Abnormality of the metacarpal bones
OMIM:248800	SIL1	64374	HP:0000648	Optic atrophy
OMIM:248800	SIL1	64374	HP:0001249	Intellectual disability
OMIM:248800	SIL1	64374	HP:0001260	Dysarthria
OMIM:248800	SIL1	64374	HP:0000519	Congenital cataract
OMIM:248800	SIL1	64374	HP:0001763	Pes planus
OMIM:248800	SIL1	64374	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:248800	SIL1	64374	HP:0001263	Global developmental delay
OMIM:248800	SIL1	64374	HP:0001508	Failure to thrive
OMIM:248800	SIL1	64374	HP:0100022	Abnormality of movement
OMIM:615841	ZMYND15	84225	HP:0000027	Azoospermia
OMIM:615841	NR5A1	2516	HP:0000027	Azoospermia
OMIM:615841	CFTR	1080	HP:0000027	Azoospermia
OMIM:615841	NANOS1	340719	HP:0000027	Azoospermia
OMIM:615841	TAF4B	6875	HP:0000027	Azoospermia
OMIM:615841	SOHLH1	402381	HP:0000027	Azoospermia
OMIM:615841	TEX11	56159	HP:0000027	Azoospermia
OMIM:192430	COMT	1312	HP:0002719	Recurrent infections
OMIM:192430	COMT	1312	HP:0000720	Mood swings
OMIM:192430	COMT	1312	HP:0001328	Specific learning disability
OMIM:192430	COMT	1312	HP:0000194	Open mouth
OMIM:192430	COMT	1312	HP:0000278	Retrognathia
OMIM:192430	COMT	1312	HP:0001537	Umbilical hernia
OMIM:192430	COMT	1312	HP:0001629	Ventricular septal defect
OMIM:192430	COMT	1312	HP:0000430	Underdeveloped nasal alae
OMIM:192430	COMT	1312	HP:0002901	Hypocalcemia
OMIM:192430	COMT	1312	HP:0012841	Retinal vascular tortuosity
OMIM:192430	COMT	1312	HP:0001611	Nasal speech
OMIM:192430	COMT	1312	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	COMT	1312	HP:0000598	Abnormality of the ear
OMIM:192430	COMT	1312	HP:0000581	Blepharophimosis
OMIM:192430	COMT	1312	HP:0000006	Autosomal dominant inheritance
OMIM:192430	COMT	1312	HP:0000818	Abnormality of the endocrine system
OMIM:192430	COMT	1312	HP:0011999	Paranoia
OMIM:192430	COMT	1312	HP:0000023	Inguinal hernia
OMIM:192430	COMT	1312	HP:0000414	Bulbous nose
OMIM:192430	COMT	1312	HP:0000718	Aggressive behavior
OMIM:192430	COMT	1312	HP:0000627	Posterior embryotoxon
OMIM:192430	COMT	1312	HP:0000201	Pierre-Robin sequence
OMIM:192430	COMT	1312	HP:0001252	Muscular hypotonia
OMIM:192430	COMT	1312	HP:0001249	Intellectual disability
OMIM:192430	COMT	1312	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	COMT	1312	HP:0000252	Microcephaly
OMIM:192430	COMT	1312	HP:0000175	Cleft palate
OMIM:192430	COMT	1312	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	COMT	1312	HP:0004322	Short stature
OMIM:192430	COMT	1312	HP:0001155	Abnormality of the hand
OMIM:192430	COMT	1312	HP:0005435	Impaired T cell function
OMIM:192430	COMT	1312	HP:0001636	Tetralogy of Fallot
OMIM:192430	TBX1	6899	HP:0002719	Recurrent infections
OMIM:192430	TBX1	6899	HP:0000720	Mood swings
OMIM:192430	TBX1	6899	HP:0001328	Specific learning disability
OMIM:192430	TBX1	6899	HP:0000194	Open mouth
OMIM:192430	TBX1	6899	HP:0000278	Retrognathia
OMIM:192430	TBX1	6899	HP:0001537	Umbilical hernia
OMIM:192430	TBX1	6899	HP:0001629	Ventricular septal defect
OMIM:192430	TBX1	6899	HP:0000430	Underdeveloped nasal alae
OMIM:192430	TBX1	6899	HP:0002901	Hypocalcemia
OMIM:192430	TBX1	6899	HP:0012841	Retinal vascular tortuosity
OMIM:192430	TBX1	6899	HP:0001611	Nasal speech
OMIM:192430	TBX1	6899	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	TBX1	6899	HP:0000598	Abnormality of the ear
OMIM:192430	TBX1	6899	HP:0000581	Blepharophimosis
OMIM:192430	TBX1	6899	HP:0000006	Autosomal dominant inheritance
OMIM:192430	TBX1	6899	HP:0000818	Abnormality of the endocrine system
OMIM:192430	TBX1	6899	HP:0011999	Paranoia
OMIM:192430	TBX1	6899	HP:0000023	Inguinal hernia
OMIM:192430	TBX1	6899	HP:0000414	Bulbous nose
OMIM:192430	TBX1	6899	HP:0000718	Aggressive behavior
OMIM:192430	TBX1	6899	HP:0000627	Posterior embryotoxon
OMIM:192430	TBX1	6899	HP:0000201	Pierre-Robin sequence
OMIM:192430	TBX1	6899	HP:0001252	Muscular hypotonia
OMIM:192430	TBX1	6899	HP:0001249	Intellectual disability
OMIM:192430	TBX1	6899	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	TBX1	6899	HP:0000252	Microcephaly
OMIM:192430	TBX1	6899	HP:0000175	Cleft palate
OMIM:192430	TBX1	6899	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	TBX1	6899	HP:0004322	Short stature
OMIM:192430	TBX1	6899	HP:0001155	Abnormality of the hand
OMIM:192430	TBX1	6899	HP:0005435	Impaired T cell function
OMIM:192430	TBX1	6899	HP:0001636	Tetralogy of Fallot
OMIM:192430	ARVCF	421	HP:0002719	Recurrent infections
OMIM:192430	ARVCF	421	HP:0000720	Mood swings
OMIM:192430	ARVCF	421	HP:0001328	Specific learning disability
OMIM:192430	ARVCF	421	HP:0000194	Open mouth
OMIM:192430	ARVCF	421	HP:0000278	Retrognathia
OMIM:192430	ARVCF	421	HP:0001537	Umbilical hernia
OMIM:192430	ARVCF	421	HP:0001629	Ventricular septal defect
OMIM:192430	ARVCF	421	HP:0000430	Underdeveloped nasal alae
OMIM:192430	ARVCF	421	HP:0002901	Hypocalcemia
OMIM:192430	ARVCF	421	HP:0012841	Retinal vascular tortuosity
OMIM:192430	ARVCF	421	HP:0001611	Nasal speech
OMIM:192430	ARVCF	421	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	ARVCF	421	HP:0000598	Abnormality of the ear
OMIM:192430	ARVCF	421	HP:0000581	Blepharophimosis
OMIM:192430	ARVCF	421	HP:0000006	Autosomal dominant inheritance
OMIM:192430	ARVCF	421	HP:0000818	Abnormality of the endocrine system
OMIM:192430	ARVCF	421	HP:0011999	Paranoia
OMIM:192430	ARVCF	421	HP:0000023	Inguinal hernia
OMIM:192430	ARVCF	421	HP:0000414	Bulbous nose
OMIM:192430	ARVCF	421	HP:0000718	Aggressive behavior
OMIM:192430	ARVCF	421	HP:0000627	Posterior embryotoxon
OMIM:192430	ARVCF	421	HP:0000201	Pierre-Robin sequence
OMIM:192430	ARVCF	421	HP:0001252	Muscular hypotonia
OMIM:192430	ARVCF	421	HP:0001249	Intellectual disability
OMIM:192430	ARVCF	421	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	ARVCF	421	HP:0000252	Microcephaly
OMIM:192430	ARVCF	421	HP:0000175	Cleft palate
OMIM:192430	ARVCF	421	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	ARVCF	421	HP:0004322	Short stature
OMIM:192430	ARVCF	421	HP:0001155	Abnormality of the hand
OMIM:192430	ARVCF	421	HP:0005435	Impaired T cell function
OMIM:192430	ARVCF	421	HP:0001636	Tetralogy of Fallot
OMIM:192430	UFD1L	7353	HP:0002719	Recurrent infections
OMIM:192430	UFD1L	7353	HP:0000720	Mood swings
OMIM:192430	UFD1L	7353	HP:0001328	Specific learning disability
OMIM:192430	UFD1L	7353	HP:0000194	Open mouth
OMIM:192430	UFD1L	7353	HP:0000278	Retrognathia
OMIM:192430	UFD1L	7353	HP:0001537	Umbilical hernia
OMIM:192430	UFD1L	7353	HP:0001629	Ventricular septal defect
OMIM:192430	UFD1L	7353	HP:0000430	Underdeveloped nasal alae
OMIM:192430	UFD1L	7353	HP:0002901	Hypocalcemia
OMIM:192430	UFD1L	7353	HP:0012841	Retinal vascular tortuosity
OMIM:192430	UFD1L	7353	HP:0001611	Nasal speech
OMIM:192430	UFD1L	7353	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	UFD1L	7353	HP:0000598	Abnormality of the ear
OMIM:192430	UFD1L	7353	HP:0000581	Blepharophimosis
OMIM:192430	UFD1L	7353	HP:0000006	Autosomal dominant inheritance
OMIM:192430	UFD1L	7353	HP:0000818	Abnormality of the endocrine system
OMIM:192430	UFD1L	7353	HP:0011999	Paranoia
OMIM:192430	UFD1L	7353	HP:0000023	Inguinal hernia
OMIM:192430	UFD1L	7353	HP:0000414	Bulbous nose
OMIM:192430	UFD1L	7353	HP:0000718	Aggressive behavior
OMIM:192430	UFD1L	7353	HP:0000627	Posterior embryotoxon
OMIM:192430	UFD1L	7353	HP:0000201	Pierre-Robin sequence
OMIM:192430	UFD1L	7353	HP:0001252	Muscular hypotonia
OMIM:192430	UFD1L	7353	HP:0001249	Intellectual disability
OMIM:192430	UFD1L	7353	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	UFD1L	7353	HP:0000252	Microcephaly
OMIM:192430	UFD1L	7353	HP:0000175	Cleft palate
OMIM:192430	UFD1L	7353	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	UFD1L	7353	HP:0004322	Short stature
OMIM:192430	UFD1L	7353	HP:0001155	Abnormality of the hand
OMIM:192430	UFD1L	7353	HP:0005435	Impaired T cell function
OMIM:192430	UFD1L	7353	HP:0001636	Tetralogy of Fallot
OMIM:192430	HIRA	7290	HP:0002719	Recurrent infections
OMIM:192430	HIRA	7290	HP:0000720	Mood swings
OMIM:192430	HIRA	7290	HP:0001328	Specific learning disability
OMIM:192430	HIRA	7290	HP:0000194	Open mouth
OMIM:192430	HIRA	7290	HP:0000278	Retrognathia
OMIM:192430	HIRA	7290	HP:0001537	Umbilical hernia
OMIM:192430	HIRA	7290	HP:0001629	Ventricular septal defect
OMIM:192430	HIRA	7290	HP:0000430	Underdeveloped nasal alae
OMIM:192430	HIRA	7290	HP:0002901	Hypocalcemia
OMIM:192430	HIRA	7290	HP:0012841	Retinal vascular tortuosity
OMIM:192430	HIRA	7290	HP:0001611	Nasal speech
OMIM:192430	HIRA	7290	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	HIRA	7290	HP:0000598	Abnormality of the ear
OMIM:192430	HIRA	7290	HP:0000581	Blepharophimosis
OMIM:192430	HIRA	7290	HP:0000006	Autosomal dominant inheritance
OMIM:192430	HIRA	7290	HP:0000818	Abnormality of the endocrine system
OMIM:192430	HIRA	7290	HP:0011999	Paranoia
OMIM:192430	HIRA	7290	HP:0000023	Inguinal hernia
OMIM:192430	HIRA	7290	HP:0000414	Bulbous nose
OMIM:192430	HIRA	7290	HP:0000718	Aggressive behavior
OMIM:192430	HIRA	7290	HP:0000627	Posterior embryotoxon
OMIM:192430	HIRA	7290	HP:0000201	Pierre-Robin sequence
OMIM:192430	HIRA	7290	HP:0001252	Muscular hypotonia
OMIM:192430	HIRA	7290	HP:0001249	Intellectual disability
OMIM:192430	HIRA	7290	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	HIRA	7290	HP:0000252	Microcephaly
OMIM:192430	HIRA	7290	HP:0000175	Cleft palate
OMIM:192430	HIRA	7290	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	HIRA	7290	HP:0004322	Short stature
OMIM:192430	HIRA	7290	HP:0001155	Abnormality of the hand
OMIM:192430	HIRA	7290	HP:0005435	Impaired T cell function
OMIM:192430	HIRA	7290	HP:0001636	Tetralogy of Fallot
OMIM:192430	GP1BB	2812	HP:0002719	Recurrent infections
OMIM:192430	GP1BB	2812	HP:0000720	Mood swings
OMIM:192430	GP1BB	2812	HP:0001328	Specific learning disability
OMIM:192430	GP1BB	2812	HP:0000194	Open mouth
OMIM:192430	GP1BB	2812	HP:0000278	Retrognathia
OMIM:192430	GP1BB	2812	HP:0001537	Umbilical hernia
OMIM:192430	GP1BB	2812	HP:0001629	Ventricular septal defect
OMIM:192430	GP1BB	2812	HP:0000430	Underdeveloped nasal alae
OMIM:192430	GP1BB	2812	HP:0002901	Hypocalcemia
OMIM:192430	GP1BB	2812	HP:0012841	Retinal vascular tortuosity
OMIM:192430	GP1BB	2812	HP:0001611	Nasal speech
OMIM:192430	GP1BB	2812	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	GP1BB	2812	HP:0000598	Abnormality of the ear
OMIM:192430	GP1BB	2812	HP:0000581	Blepharophimosis
OMIM:192430	GP1BB	2812	HP:0000006	Autosomal dominant inheritance
OMIM:192430	GP1BB	2812	HP:0000818	Abnormality of the endocrine system
OMIM:192430	GP1BB	2812	HP:0011999	Paranoia
OMIM:192430	GP1BB	2812	HP:0000023	Inguinal hernia
OMIM:192430	GP1BB	2812	HP:0000414	Bulbous nose
OMIM:192430	GP1BB	2812	HP:0000718	Aggressive behavior
OMIM:192430	GP1BB	2812	HP:0000627	Posterior embryotoxon
OMIM:192430	GP1BB	2812	HP:0000201	Pierre-Robin sequence
OMIM:192430	GP1BB	2812	HP:0001252	Muscular hypotonia
OMIM:192430	GP1BB	2812	HP:0001249	Intellectual disability
OMIM:192430	GP1BB	2812	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	GP1BB	2812	HP:0000252	Microcephaly
OMIM:192430	GP1BB	2812	HP:0000175	Cleft palate
OMIM:192430	GP1BB	2812	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	GP1BB	2812	HP:0004322	Short stature
OMIM:192430	GP1BB	2812	HP:0001155	Abnormality of the hand
OMIM:192430	GP1BB	2812	HP:0005435	Impaired T cell function
OMIM:192430	GP1BB	2812	HP:0001636	Tetralogy of Fallot
OMIM:614851	NIN	51199	HP:0001250	Seizures
OMIM:614851	NIN	51199	HP:0004626	Lumbar scoliosis
OMIM:614851	NIN	51199	HP:0002750	Delayed skeletal maturation
OMIM:614851	NIN	51199	HP:0000448	Prominent nose
OMIM:614851	NIN	51199	HP:0001191	Abnormality of the carpal bones
OMIM:614851	NIN	51199	HP:0003067	Madelung deformity
OMIM:614851	NIN	51199	HP:0008551	Microtia
OMIM:614851	NIN	51199	HP:0011344	Severe global developmental delay
OMIM:614851	NIN	51199	HP:0001511	Intrauterine growth retardation
OMIM:614851	NIN	51199	HP:0000601	Hypotelorism
OMIM:614851	NIN	51199	HP:0001385	Hip dysplasia
OMIM:614851	NIN	51199	HP:0000252	Microcephaly
OMIM:614851	NIN	51199	HP:0000786	Primary amenorrhea
OMIM:614851	NIN	51199	HP:0003510	Severe short stature
OMIM:614851	NIN	51199	HP:0010864	Intellectual disability, severe
OMIM:614851	NIN	51199	HP:0000007	Autosomal recessive inheritance
OMIM:614851	NIN	51199	HP:0011787	Central hypothyroidism
OMIM:613949	CD4	920	HP:0002843	Abnormality of T cells
OMIM:134610	MEFV	4210	HP:0000083	Renal insufficiency
OMIM:134610	MEFV	4210	HP:0000093	Proteinuria
OMIM:134610	MEFV	4210	HP:0001369	Arthritis
OMIM:134610	MEFV	4210	HP:0100749	Chest pain
OMIM:134610	MEFV	4210	HP:0002829	Arthralgia
OMIM:134610	MEFV	4210	HP:0003621	Juvenile onset
OMIM:134610	MEFV	4210	HP:0000006	Autosomal dominant inheritance
OMIM:134610	MEFV	4210	HP:0002027	Abdominal pain
OMIM:153600	MYD88	4615	HP:0002665	Lymphoma
OMIM:153600	MYD88	4615	HP:0000006	Autosomal dominant inheritance
OMIM:153600	MYD88	4615	HP:0001271	Polyneuropathy
OMIM:153600	MYD88	4615	HP:0001909	Leukemia
OMIM:124900	DIAPH1	1729	HP:0001730	Progressive hearing impairment
OMIM:124900	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:124900	DIAPH1	1729	HP:0011463	Childhood onset
OMIM:124900	DIAPH1	1729	HP:0008542	Low-frequency hearing loss
OMIM:124900	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:124900	CEACAM16	388551	HP:0001730	Progressive hearing impairment
OMIM:124900	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:124900	CEACAM16	388551	HP:0011463	Childhood onset
OMIM:124900	CEACAM16	388551	HP:0008542	Low-frequency hearing loss
OMIM:124900	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:124900	SLC17A8	246213	HP:0001730	Progressive hearing impairment
OMIM:124900	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:124900	SLC17A8	246213	HP:0011463	Childhood onset
OMIM:124900	SLC17A8	246213	HP:0008542	Low-frequency hearing loss
OMIM:124900	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:124900	TJP2	9414	HP:0001730	Progressive hearing impairment
OMIM:124900	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:124900	TJP2	9414	HP:0011463	Childhood onset
OMIM:124900	TJP2	9414	HP:0008542	Low-frequency hearing loss
OMIM:124900	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:124900	ACTG1	71	HP:0001730	Progressive hearing impairment
OMIM:124900	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:124900	ACTG1	71	HP:0011463	Childhood onset
OMIM:124900	ACTG1	71	HP:0008542	Low-frequency hearing loss
OMIM:124900	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:124900	CCDC50	152137	HP:0001730	Progressive hearing impairment
OMIM:124900	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:124900	CCDC50	152137	HP:0011463	Childhood onset
OMIM:124900	CCDC50	152137	HP:0008542	Low-frequency hearing loss
OMIM:124900	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:124900	MIR96	407053	HP:0001730	Progressive hearing impairment
OMIM:124900	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:124900	MIR96	407053	HP:0011463	Childhood onset
OMIM:124900	MIR96	407053	HP:0008542	Low-frequency hearing loss
OMIM:124900	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:124900	GJB2	2706	HP:0001730	Progressive hearing impairment
OMIM:124900	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:124900	GJB2	2706	HP:0011463	Childhood onset
OMIM:124900	GJB2	2706	HP:0008542	Low-frequency hearing loss
OMIM:124900	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:124900	POU4F3	5459	HP:0001730	Progressive hearing impairment
OMIM:124900	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:124900	POU4F3	5459	HP:0011463	Childhood onset
OMIM:124900	POU4F3	5459	HP:0008542	Low-frequency hearing loss
OMIM:124900	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:124900	GJB3	2707	HP:0001730	Progressive hearing impairment
OMIM:124900	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:124900	GJB3	2707	HP:0011463	Childhood onset
OMIM:124900	GJB3	2707	HP:0008542	Low-frequency hearing loss
OMIM:124900	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:124900	MYH9	4627	HP:0001730	Progressive hearing impairment
OMIM:124900	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:124900	MYH9	4627	HP:0011463	Childhood onset
OMIM:124900	MYH9	4627	HP:0008542	Low-frequency hearing loss
OMIM:124900	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:124900	CRYM	1428	HP:0001730	Progressive hearing impairment
OMIM:124900	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:124900	CRYM	1428	HP:0011463	Childhood onset
OMIM:124900	CRYM	1428	HP:0008542	Low-frequency hearing loss
OMIM:124900	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:124900	COL11A2	1302	HP:0001730	Progressive hearing impairment
OMIM:124900	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:124900	COL11A2	1302	HP:0011463	Childhood onset
OMIM:124900	COL11A2	1302	HP:0008542	Low-frequency hearing loss
OMIM:124900	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:124900	EYA4	2070	HP:0001730	Progressive hearing impairment
OMIM:124900	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:124900	EYA4	2070	HP:0011463	Childhood onset
OMIM:124900	EYA4	2070	HP:0008542	Low-frequency hearing loss
OMIM:124900	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:124900	DFNA5	1687	HP:0001730	Progressive hearing impairment
OMIM:124900	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:124900	DFNA5	1687	HP:0011463	Childhood onset
OMIM:124900	DFNA5	1687	HP:0008542	Low-frequency hearing loss
OMIM:124900	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:124900	DIAPH3	81624	HP:0001730	Progressive hearing impairment
OMIM:124900	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:124900	DIAPH3	81624	HP:0011463	Childhood onset
OMIM:124900	DIAPH3	81624	HP:0008542	Low-frequency hearing loss
OMIM:124900	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:124900	TMC1	117531	HP:0001730	Progressive hearing impairment
OMIM:124900	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:124900	TMC1	117531	HP:0011463	Childhood onset
OMIM:124900	TMC1	117531	HP:0008542	Low-frequency hearing loss
OMIM:124900	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:124900	COCH	1690	HP:0001730	Progressive hearing impairment
OMIM:124900	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:124900	COCH	1690	HP:0011463	Childhood onset
OMIM:124900	COCH	1690	HP:0008542	Low-frequency hearing loss
OMIM:124900	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:124900	OSBPL2	9885	HP:0001730	Progressive hearing impairment
OMIM:124900	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:124900	OSBPL2	9885	HP:0011463	Childhood onset
OMIM:124900	OSBPL2	9885	HP:0008542	Low-frequency hearing loss
OMIM:124900	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:124900	SIX1	6495	HP:0001730	Progressive hearing impairment
OMIM:124900	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:124900	SIX1	6495	HP:0011463	Childhood onset
OMIM:124900	SIX1	6495	HP:0008542	Low-frequency hearing loss
OMIM:124900	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:124900	TECTA	7007	HP:0001730	Progressive hearing impairment
OMIM:124900	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:124900	TECTA	7007	HP:0011463	Childhood onset
OMIM:124900	TECTA	7007	HP:0008542	Low-frequency hearing loss
OMIM:124900	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:124900	MYO1A	4640	HP:0001730	Progressive hearing impairment
OMIM:124900	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:124900	MYO1A	4640	HP:0011463	Childhood onset
OMIM:124900	MYO1A	4640	HP:0008542	Low-frequency hearing loss
OMIM:124900	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:124900	MYO1C	4641	HP:0001730	Progressive hearing impairment
OMIM:124900	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:124900	MYO1C	4641	HP:0011463	Childhood onset
OMIM:124900	MYO1C	4641	HP:0008542	Low-frequency hearing loss
OMIM:124900	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:124900	MYO6	4646	HP:0001730	Progressive hearing impairment
OMIM:124900	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:124900	MYO6	4646	HP:0011463	Childhood onset
OMIM:124900	MYO6	4646	HP:0008542	Low-frequency hearing loss
OMIM:124900	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:124900	MYO7A	4647	HP:0001730	Progressive hearing impairment
OMIM:124900	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:124900	MYO7A	4647	HP:0011463	Childhood onset
OMIM:124900	MYO7A	4647	HP:0008542	Low-frequency hearing loss
OMIM:124900	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:124900	GRHL2	79977	HP:0001730	Progressive hearing impairment
OMIM:124900	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:124900	GRHL2	79977	HP:0011463	Childhood onset
OMIM:124900	GRHL2	79977	HP:0008542	Low-frequency hearing loss
OMIM:124900	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:124900	DIABLO	56616	HP:0001730	Progressive hearing impairment
OMIM:124900	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:124900	DIABLO	56616	HP:0011463	Childhood onset
OMIM:124900	DIABLO	56616	HP:0008542	Low-frequency hearing loss
OMIM:124900	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:124900	MYH14	79784	HP:0001730	Progressive hearing impairment
OMIM:124900	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:124900	MYH14	79784	HP:0011463	Childhood onset
OMIM:124900	MYH14	79784	HP:0008542	Low-frequency hearing loss
OMIM:124900	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:124900	P2RX2	22953	HP:0001730	Progressive hearing impairment
OMIM:124900	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:124900	P2RX2	22953	HP:0011463	Childhood onset
OMIM:124900	P2RX2	22953	HP:0008542	Low-frequency hearing loss
OMIM:124900	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:124900	WFS1	7466	HP:0001730	Progressive hearing impairment
OMIM:124900	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:124900	WFS1	7466	HP:0011463	Childhood onset
OMIM:124900	WFS1	7466	HP:0008542	Low-frequency hearing loss
OMIM:124900	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:124900	TNC	3371	HP:0001730	Progressive hearing impairment
OMIM:124900	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:124900	TNC	3371	HP:0011463	Childhood onset
OMIM:124900	TNC	3371	HP:0008542	Low-frequency hearing loss
OMIM:124900	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:124900	KCNQ4	9132	HP:0001730	Progressive hearing impairment
OMIM:124900	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:124900	KCNQ4	9132	HP:0011463	Childhood onset
OMIM:124900	KCNQ4	9132	HP:0008542	Low-frequency hearing loss
OMIM:124900	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:124900	HOMER2	9455	HP:0001730	Progressive hearing impairment
OMIM:124900	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:124900	HOMER2	9455	HP:0011463	Childhood onset
OMIM:124900	HOMER2	9455	HP:0008542	Low-frequency hearing loss
OMIM:124900	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:124900	GJB6	10804	HP:0001730	Progressive hearing impairment
OMIM:124900	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:124900	GJB6	10804	HP:0011463	Childhood onset
OMIM:124900	GJB6	10804	HP:0008542	Low-frequency hearing loss
OMIM:124900	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:124900	TBC1D24	57465	HP:0001730	Progressive hearing impairment
OMIM:124900	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:124900	TBC1D24	57465	HP:0011463	Childhood onset
OMIM:124900	TBC1D24	57465	HP:0008542	Low-frequency hearing loss
OMIM:124900	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:223360	DBH	1621	HP:0001250	Seizures
OMIM:223360	DBH	1621	HP:0000007	Autosomal recessive inheritance
OMIM:223360	DBH	1621	HP:0000218	High palate
OMIM:223360	DBH	1621	HP:0000508	Ptosis
OMIM:262190	INSR	3643	HP:0001263	Global developmental delay
OMIM:262190	INSR	3643	HP:0010935	Abnormality of the upper urinary tract
OMIM:262190	INSR	3643	HP:0000093	Proteinuria
OMIM:262190	INSR	3643	HP:0000303	Mandibular prognathia
OMIM:262190	INSR	3643	HP:0006288	Advanced eruption of teeth
OMIM:262190	INSR	3643	HP:0000218	High palate
OMIM:262190	INSR	3643	HP:0001511	Intrauterine growth retardation
OMIM:262190	INSR	3643	HP:0000007	Autosomal recessive inheritance
OMIM:262190	INSR	3643	HP:0000820	Abnormality of the thyroid gland
OMIM:262190	INSR	3643	HP:0000040	Long penis
OMIM:262190	INSR	3643	HP:0000819	Diabetes mellitus
OMIM:262190	INSR	3643	HP:0000826	Precocious puberty
OMIM:262190	INSR	3643	HP:0000956	Acanthosis nigricans
OMIM:262190	INSR	3643	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:262190	INSR	3643	HP:0001518	Small for gestational age
OMIM:262190	INSR	3643	HP:0000958	Dry skin
OMIM:262190	INSR	3643	HP:0002208	Coarse hair
OMIM:262190	INSR	3643	HP:0000057	Clitoromegaly
OMIM:262190	INSR	3643	HP:0004322	Short stature
OMIM:262190	INSR	3643	HP:0007495	Prematurely aged appearance
OMIM:262190	INSR	3643	HP:0000845	Growth hormone excess
OMIM:262190	INSR	3643	HP:0009830	Peripheral neuropathy
OMIM:262190	INSR	3643	HP:0001156	Brachydactyly syndrome
OMIM:262190	INSR	3643	HP:0000998	Hypertrichosis
OMIM:262190	INSR	3643	HP:0004298	Abnormality of the abdominal wall
OMIM:262190	INSR	3643	HP:0000147	Polycystic ovaries
OMIM:262190	INSR	3643	HP:0003074	Hyperglycemia
OMIM:262190	INSR	3643	HP:0001943	Hypoglycemia
OMIM:262190	INSR	3643	HP:0000280	Coarse facial features
OMIM:262190	INSR	3643	HP:0000842	Hyperinsulinemia
OMIM:262190	INSR	3643	HP:0010458	Female pseudohermaphroditism
OMIM:262190	INSR	3643	HP:0001231	Abnormality of the fingernails
OMIM:230800	GBA	2629	HP:0000978	Bruising susceptibility
OMIM:230800	GBA	2629	HP:0002653	Bone pain
OMIM:230800	GBA	2629	HP:0000007	Autosomal recessive inheritance
OMIM:230800	GBA	2629	HP:0001645	Sudden cardiac death
OMIM:230800	GBA	2629	HP:0002797	Osteolysis
OMIM:230800	GBA	2629	HP:0001080	Biliary tract abnormality
OMIM:230800	GBA	2629	HP:0000790	Hematuria
OMIM:230800	GBA	2629	HP:0002750	Delayed skeletal maturation
OMIM:230800	GBA	2629	HP:0002757	Recurrent fractures
OMIM:230800	GBA	2629	HP:0005528	Bone marrow hypocellularity
OMIM:230800	GBA	2629	HP:0010702	Increased antibody level in blood
OMIM:230800	GBA	2629	HP:0001873	Thrombocytopenia
OMIM:230800	GBA	2629	HP:0002113	Pulmonary infiltrates
OMIM:230800	GBA	2629	HP:0001394	Cirrhosis
OMIM:230800	GBA	2629	HP:0002240	Hepatomegaly
OMIM:230800	GBA	2629	HP:0002808	Kyphosis
OMIM:230800	GBA	2629	HP:0001903	Anemia
OMIM:230800	GBA	2629	HP:0002027	Abdominal pain
OMIM:230800	GBA	2629	HP:0001876	Pancytopenia
OMIM:230800	GBA	2629	HP:0001744	Splenomegaly
OMIM:230800	GBA	2629	HP:0000421	Epistaxis
OMIM:230800	GBA	2629	HP:0002094	Dyspnea
OMIM:230800	GBA	2629	HP:0011001	Increased bone mineral density
OMIM:230800	GBA	2629	HP:0002091	Restrictive lung disease
OMIM:230800	GBA	2629	HP:0007401	Macular atrophy
OMIM:230800	GBA	2629	HP:0002756	Pathologic fracture
OMIM:230800	GBA	2629	HP:0001637	Abnormality of the myocardium
OMIM:230800	GBA	2629	HP:0000078	Abnormality of the genital system
OMIM:230800	GBA	2629	HP:0001541	Ascites
OMIM:230800	GBA	2629	HP:0002758	Osteoarthritis
OMIM:230800	GBA	2629	HP:0000953	Hyperpigmentation of the skin
OMIM:230800	GBA	2629	HP:0000093	Proteinuria
OMIM:230800	GBA	2629	HP:0000225	Gingival bleeding
OMIM:230800	GBA	2629	HP:0001882	Leukopenia
OMIM:230800	GBA	2629	HP:0004349	Reduced bone mineral density
OMIM:230800	SCARB2	950	HP:0000978	Bruising susceptibility
OMIM:230800	SCARB2	950	HP:0002653	Bone pain
OMIM:230800	SCARB2	950	HP:0000007	Autosomal recessive inheritance
OMIM:230800	SCARB2	950	HP:0001645	Sudden cardiac death
OMIM:230800	SCARB2	950	HP:0002797	Osteolysis
OMIM:230800	SCARB2	950	HP:0001080	Biliary tract abnormality
OMIM:230800	SCARB2	950	HP:0000790	Hematuria
OMIM:230800	SCARB2	950	HP:0002750	Delayed skeletal maturation
OMIM:230800	SCARB2	950	HP:0002757	Recurrent fractures
OMIM:230800	SCARB2	950	HP:0005528	Bone marrow hypocellularity
OMIM:230800	SCARB2	950	HP:0010702	Increased antibody level in blood
OMIM:230800	SCARB2	950	HP:0001873	Thrombocytopenia
OMIM:230800	SCARB2	950	HP:0002113	Pulmonary infiltrates
OMIM:230800	SCARB2	950	HP:0001394	Cirrhosis
OMIM:230800	SCARB2	950	HP:0002240	Hepatomegaly
OMIM:230800	SCARB2	950	HP:0002808	Kyphosis
OMIM:230800	SCARB2	950	HP:0001903	Anemia
OMIM:230800	SCARB2	950	HP:0002027	Abdominal pain
OMIM:230800	SCARB2	950	HP:0001876	Pancytopenia
OMIM:230800	SCARB2	950	HP:0001744	Splenomegaly
OMIM:230800	SCARB2	950	HP:0000421	Epistaxis
OMIM:230800	SCARB2	950	HP:0002094	Dyspnea
OMIM:230800	SCARB2	950	HP:0011001	Increased bone mineral density
OMIM:230800	SCARB2	950	HP:0002091	Restrictive lung disease
OMIM:230800	SCARB2	950	HP:0007401	Macular atrophy
OMIM:230800	SCARB2	950	HP:0002756	Pathologic fracture
OMIM:230800	SCARB2	950	HP:0001637	Abnormality of the myocardium
OMIM:230800	SCARB2	950	HP:0000078	Abnormality of the genital system
OMIM:230800	SCARB2	950	HP:0001541	Ascites
OMIM:230800	SCARB2	950	HP:0002758	Osteoarthritis
OMIM:230800	SCARB2	950	HP:0000953	Hyperpigmentation of the skin
OMIM:230800	SCARB2	950	HP:0000093	Proteinuria
OMIM:230800	SCARB2	950	HP:0000225	Gingival bleeding
OMIM:230800	SCARB2	950	HP:0001882	Leukopenia
OMIM:230800	SCARB2	950	HP:0004349	Reduced bone mineral density
OMIM:616039	COX6A1	1337	HP:0002936	Distal sensory impairment
OMIM:616039	COX6A1	1337	HP:0003383	Onion bulb formation
OMIM:616039	COX6A1	1337	HP:0009027	Foot dorsiflexor weakness
OMIM:616039	COX6A1	1337	HP:0001265	Hyporeflexia
OMIM:616039	COX6A1	1337	HP:0001761	Pes cavus
OMIM:616039	COX6A1	1337	HP:0001284	Areflexia
OMIM:616039	COX6A1	1337	HP:0003376	Steppage gait
OMIM:270960	SYCP3	50511	HP:0000027	Azoospermia
OMIM:270960	SYCP3	50511	HP:0000006	Autosomal dominant inheritance
OMIM:270960	SYCP3	50511	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:270960	SYCP3	50511	HP:0000007	Autosomal recessive inheritance
OMIM:600903	WIPF1	7456	HP:0001878	Hemolytic anemia
OMIM:600903	WIPF1	7456	HP:0002963	Abnormal delayed hypersensitivity skin test
OMIM:600903	WIPF1	7456	HP:0000006	Autosomal dominant inheritance
OMIM:600903	WIPF1	7456	HP:0001873	Thrombocytopenia
OMIM:600903	WIPF1	7456	HP:0001287	Meningitis
OMIM:600903	WIPF1	7456	HP:0002090	Pneumonia
OMIM:600903	WIPF1	7456	HP:0002788	Recurrent upper respiratory tract infections
OMIM:600903	WIPF1	7456	HP:0002783	Recurrent lower respiratory tract infections
OMIM:600903	WIPF1	7456	HP:0000246	Sinusitis
OMIM:600903	WIPF1	7456	HP:0000225	Gingival bleeding
OMIM:600903	WIPF1	7456	HP:0000112	Nephropathy
OMIM:600903	WIPF1	7456	HP:0000964	Eczema
OMIM:600903	WIPF1	7456	HP:0003010	Prolonged bleeding time
OMIM:600903	WIPF1	7456	HP:0000388	Otitis media
OMIM:600903	WIPF1	7456	HP:0000007	Autosomal recessive inheritance
OMIM:600903	WIPF1	7456	HP:0002014	Diarrhea
OMIM:600903	WIPF1	7456	HP:0002037	Inflammation of the large intestine
OMIM:600903	WIPF1	7456	HP:0000421	Epistaxis
OMIM:600903	WAS	7454	HP:0001878	Hemolytic anemia
OMIM:600903	WAS	7454	HP:0002963	Abnormal delayed hypersensitivity skin test
OMIM:600903	WAS	7454	HP:0000006	Autosomal dominant inheritance
OMIM:600903	WAS	7454	HP:0001873	Thrombocytopenia
OMIM:600903	WAS	7454	HP:0001287	Meningitis
OMIM:600903	WAS	7454	HP:0002090	Pneumonia
OMIM:600903	WAS	7454	HP:0002788	Recurrent upper respiratory tract infections
OMIM:600903	WAS	7454	HP:0002783	Recurrent lower respiratory tract infections
OMIM:600903	WAS	7454	HP:0000246	Sinusitis
OMIM:600903	WAS	7454	HP:0000225	Gingival bleeding
OMIM:600903	WAS	7454	HP:0000112	Nephropathy
OMIM:600903	WAS	7454	HP:0000964	Eczema
OMIM:600903	WAS	7454	HP:0003010	Prolonged bleeding time
OMIM:600903	WAS	7454	HP:0000388	Otitis media
OMIM:600903	WAS	7454	HP:0000007	Autosomal recessive inheritance
OMIM:600903	WAS	7454	HP:0002014	Diarrhea
OMIM:600903	WAS	7454	HP:0002037	Inflammation of the large intestine
OMIM:600903	WAS	7454	HP:0000421	Epistaxis
OMIM:260350	BRCA1	672	HP:0002894	Neoplasm of the pancreas
OMIM:260350	PALB2	79728	HP:0002894	Neoplasm of the pancreas
OMIM:260350	BRCA2	675	HP:0002894	Neoplasm of the pancreas
OMIM:260350	KRAS	3845	HP:0002894	Neoplasm of the pancreas
OMIM:260350	TP53	7157	HP:0002894	Neoplasm of the pancreas
OMIM:260350	CDKN2A	1029	HP:0002894	Neoplasm of the pancreas
OMIM:260350	SMAD4	4089	HP:0002894	Neoplasm of the pancreas
OMIM:260350	STK11	6794	HP:0002894	Neoplasm of the pancreas
OMIM:260350	PALLD	23022	HP:0002894	Neoplasm of the pancreas
ORPHANET:231183	CLRN1	7401	HP:0000518	Cataract
ORPHANET:231183	CLRN1	7401	HP:0001123	Visual field defect
ORPHANET:231183	CLRN1	7401	HP:0002311	Incoordination
ORPHANET:231183	CLRN1	7401	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231183	CLRN1	7401	HP:0000512	Abnormal electroretinogram
ORPHANET:231183	CLRN1	7401	HP:0000483	Astigmatism
ORPHANET:231183	CLRN1	7401	HP:0000407	Sensorineural hearing impairment
ORPHANET:231183	CLRN1	7401	HP:0000540	Hypermetropia
ORPHANET:231183	CLRN1	7401	HP:0000738	Hallucinations
ORPHANET:231183	CLRN1	7401	HP:0000505	Visual impairment
ORPHANET:231183	CLRN1	7401	HP:0000662	Nyctalopia
ORPHANET:231183	HARS	3035	HP:0000518	Cataract
ORPHANET:231183	HARS	3035	HP:0001123	Visual field defect
ORPHANET:231183	HARS	3035	HP:0002311	Incoordination
ORPHANET:231183	HARS	3035	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231183	HARS	3035	HP:0000512	Abnormal electroretinogram
ORPHANET:231183	HARS	3035	HP:0000483	Astigmatism
ORPHANET:231183	HARS	3035	HP:0000407	Sensorineural hearing impairment
ORPHANET:231183	HARS	3035	HP:0000540	Hypermetropia
ORPHANET:231183	HARS	3035	HP:0000738	Hallucinations
ORPHANET:231183	HARS	3035	HP:0000505	Visual impairment
ORPHANET:231183	HARS	3035	HP:0000662	Nyctalopia
ORPHANET:231183	TRNS2	4575	HP:0000518	Cataract
ORPHANET:231183	TRNS2	4575	HP:0001123	Visual field defect
ORPHANET:231183	TRNS2	4575	HP:0002311	Incoordination
ORPHANET:231183	TRNS2	4575	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231183	TRNS2	4575	HP:0000512	Abnormal electroretinogram
ORPHANET:231183	TRNS2	4575	HP:0000483	Astigmatism
ORPHANET:231183	TRNS2	4575	HP:0000407	Sensorineural hearing impairment
ORPHANET:231183	TRNS2	4575	HP:0000540	Hypermetropia
ORPHANET:231183	TRNS2	4575	HP:0000738	Hallucinations
ORPHANET:231183	TRNS2	4575	HP:0000505	Visual impairment
ORPHANET:231183	TRNS2	4575	HP:0000662	Nyctalopia
OMIM:613327	PTRF	284119	HP:0003593	Infantile onset
OMIM:613327	PTRF	284119	HP:0003326	Myalgia
OMIM:613327	PTRF	284119	HP:0000956	Acanthosis nigricans
OMIM:613327	PTRF	284119	HP:0003701	Proximal muscle weakness
OMIM:613327	PTRF	284119	HP:0001007	Hirsutism
OMIM:613327	PTRF	284119	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613327	PTRF	284119	HP:0000842	Hyperinsulinemia
OMIM:613327	PTRF	284119	HP:0002015	Dysphagia
OMIM:613327	PTRF	284119	HP:0003306	Spinal rigidity
OMIM:613327	PTRF	284119	HP:0001508	Failure to thrive
OMIM:613327	PTRF	284119	HP:0002155	Hypertriglyceridemia
OMIM:613327	PTRF	284119	HP:0000939	Osteoporosis
OMIM:613327	PTRF	284119	HP:0001397	Hepatic steatosis
OMIM:613327	PTRF	284119	HP:0002650	Scoliosis
OMIM:613327	PTRF	284119	HP:0011968	Feeding difficulties
OMIM:613327	PTRF	284119	HP:0003307	Hyperlordosis
OMIM:613327	PTRF	284119	HP:0001744	Splenomegaly
OMIM:613327	PTRF	284119	HP:0002021	Pyloric stenosis
OMIM:613327	PTRF	284119	HP:0009125	Lipodystrophy
OMIM:613327	PTRF	284119	HP:0002910	Elevated hepatic transaminases
OMIM:613327	PTRF	284119	HP:0003560	Muscular dystrophy
OMIM:613327	PTRF	284119	HP:0005110	Atrial fibrillation
OMIM:613327	PTRF	284119	HP:0003546	Exercise intolerance
OMIM:613327	PTRF	284119	HP:0002019	Constipation
OMIM:613327	PTRF	284119	HP:0000007	Autosomal recessive inheritance
OMIM:613327	PTRF	284119	HP:0002240	Hepatomegaly
OMIM:613327	PTRF	284119	HP:0003712	Skeletal muscle hypertrophy
OMIM:613327	PTRF	284119	HP:0001657	Prolonged QT interval
OMIM:613327	PTRF	284119	HP:0001662	Bradycardia
OMIM:613327	PTRF	284119	HP:0000855	Insulin resistance
OMIM:613327	PTRF	284119	HP:0000938	Osteopenia
OMIM:613327	PTRF	284119	HP:0002719	Recurrent infections
OMIM:613327	PTRF	284119	HP:0003324	Generalized muscle weakness
OMIM:613327	PTRF	284119	HP:0001371	Flexion contracture
OMIM:615789	CRIPT	9419	HP:0001903	Anemia
OMIM:615789	CRIPT	9419	HP:0002719	Recurrent infections
OMIM:615789	CRIPT	9419	HP:0000520	Proptosis
OMIM:615789	CRIPT	9419	HP:0011927	Short digit
OMIM:615789	CRIPT	9419	HP:0000252	Microcephaly
OMIM:615789	CRIPT	9419	HP:0000535	Sparse eyebrow
OMIM:615789	CRIPT	9419	HP:0002007	Frontal bossing
OMIM:615789	CRIPT	9419	HP:0000938	Osteopenia
OMIM:615789	CRIPT	9419	HP:0001156	Brachydactyly syndrome
OMIM:615789	CRIPT	9419	HP:0000463	Anteverted nares
OMIM:615789	CRIPT	9419	HP:0009882	Short distal phalanx of finger
OMIM:615789	CRIPT	9419	HP:0000007	Autosomal recessive inheritance
OMIM:615789	CRIPT	9419	HP:0005280	Depressed nasal bridge
OMIM:615789	CRIPT	9419	HP:0000348	High forehead
OMIM:615789	CRIPT	9419	HP:0001762	Talipes equinovarus
OMIM:615789	CRIPT	9419	HP:0001518	Small for gestational age
OMIM:615789	CRIPT	9419	HP:0000506	Telecanthus
OMIM:615789	CRIPT	9419	HP:0003510	Severe short stature
OMIM:615789	CRIPT	9419	HP:0001883	Talipes
ORPHANET:101330	HFE	3077	HP:0000963	Thin skin
ORPHANET:101330	HFE	3077	HP:0001397	Hepatic steatosis
ORPHANET:101330	HFE	3077	HP:0000987	Atypical scarring of skin
ORPHANET:101330	HFE	3077	HP:0000998	Hypertrichosis
ORPHANET:101330	HFE	3077	HP:0000992	Cutaneous photosensitivity
ORPHANET:101330	HFE	3077	HP:0001053	Hypopigmented skin patches
ORPHANET:101330	HFE	3077	HP:0000969	Edema
ORPHANET:101330	HFE	3077	HP:0001645	Sudden cardiac death
ORPHANET:101330	HFE	3077	HP:0004372	Reduced consciousness/confusion
ORPHANET:101330	HFE	3077	HP:0000988	Skin rash
ORPHANET:101330	HFE	3077	HP:0001394	Cirrhosis
ORPHANET:101330	HFE	3077	HP:0007400	Irregular hyperpigmentation
ORPHANET:101330	UROD	7389	HP:0000963	Thin skin
ORPHANET:101330	UROD	7389	HP:0001397	Hepatic steatosis
ORPHANET:101330	UROD	7389	HP:0000987	Atypical scarring of skin
ORPHANET:101330	UROD	7389	HP:0000998	Hypertrichosis
ORPHANET:101330	UROD	7389	HP:0000992	Cutaneous photosensitivity
ORPHANET:101330	UROD	7389	HP:0001053	Hypopigmented skin patches
ORPHANET:101330	UROD	7389	HP:0000969	Edema
ORPHANET:101330	UROD	7389	HP:0001645	Sudden cardiac death
ORPHANET:101330	UROD	7389	HP:0004372	Reduced consciousness/confusion
ORPHANET:101330	UROD	7389	HP:0000988	Skin rash
ORPHANET:101330	UROD	7389	HP:0001394	Cirrhosis
ORPHANET:101330	UROD	7389	HP:0007400	Irregular hyperpigmentation
OMIM:261680	PCK1	5105	HP:0002059	Cerebral atrophy
OMIM:261680	PCK1	5105	HP:0000007	Autosomal recessive inheritance
OMIM:261680	PCK1	5105	HP:0000648	Optic atrophy
OMIM:261680	PCK1	5105	HP:0002104	Apnea
OMIM:261680	PCK1	5105	HP:0001263	Global developmental delay
OMIM:261680	PCK1	5105	HP:0001250	Seizures
OMIM:261680	PCK1	5105	HP:0001399	Hepatic failure
OMIM:261680	PCK1	5105	HP:0001943	Hypoglycemia
OMIM:261680	PCK1	5105	HP:0003593	Infantile onset
OMIM:261680	PCK1	5105	HP:0001397	Hepatic steatosis
OMIM:261680	PCK1	5105	HP:0002353	EEG abnormality
OMIM:261680	PCK1	5105	HP:0000961	Cyanosis
OMIM:211990	SOX9	6662	HP:0000007	Autosomal recessive inheritance
OMIM:211990	SOX9	6662	HP:0002983	Micromelia
OMIM:211990	SOX9	6662	HP:0006487	Bowing of the long bones
OMIM:300220	HSD17B10	3028	HP:0001419	X-linked recessive inheritance
OMIM:300220	HSD17B10	3028	HP:0001249	Intellectual disability
OMIM:300220	HSD17B10	3028	HP:0002938	Lumbar hyperlordosis
OMIM:300220	HSD17B10	3028	HP:0100543	Cognitive impairment
OMIM:300220	HSD17B10	3028	HP:0001266	Choreoathetosis
OMIM:300220	HSD17B10	3028	HP:0001270	Motor delay
OMIM:300220	HSD17B10	3028	HP:0000738	Hallucinations
OMIM:300220	HSD17B10	3028	HP:0001257	Spasticity
OMIM:300220	HSD17B10	3028	HP:0000718	Aggressive behavior
OMIM:300220	HSD17B10	3028	HP:0100022	Abnormality of movement
OMIM:300220	HSD17B10	3028	HP:0000713	Agitation
OMIM:300220	HSD17B10	3028	HP:0001347	Hyperreflexia
OMIM:300220	HSD17B10	3028	HP:0003593	Infantile onset
OMIM:300220	HSD17B10	3028	HP:0000709	Psychosis
OMIM:300220	HSD17B10	3028	HP:0001166	Arachnodactyly
OMIM:300220	HSD17B10	3028	HP:0001260	Dysarthria
OMIM:300220	HSD17B10	3028	HP:0000708	Behavioral abnormality
OMIM:614373	SPG11	80208	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614373	SPG11	80208	HP:0001257	Spasticity
OMIM:614373	SPG11	80208	HP:0001347	Hyperreflexia
OMIM:614373	SPG11	80208	HP:0003677	Slow progression
OMIM:614373	SPG11	80208	HP:0000007	Autosomal recessive inheritance
OMIM:614373	SPG11	80208	HP:0002127	Abnormal upper motor neuron morphology
OMIM:614373	SPG11	80208	HP:0002366	Abnormal lower motor neuron morphology
OMIM:614373	SIGMAR1	10280	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614373	SIGMAR1	10280	HP:0001257	Spasticity
OMIM:614373	SIGMAR1	10280	HP:0001347	Hyperreflexia
OMIM:614373	SIGMAR1	10280	HP:0003677	Slow progression
OMIM:614373	SIGMAR1	10280	HP:0000007	Autosomal recessive inheritance
OMIM:614373	SIGMAR1	10280	HP:0002127	Abnormal upper motor neuron morphology
OMIM:614373	SIGMAR1	10280	HP:0002366	Abnormal lower motor neuron morphology
OMIM:614373	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614373	FUS	2521	HP:0001257	Spasticity
OMIM:614373	FUS	2521	HP:0001347	Hyperreflexia
OMIM:614373	FUS	2521	HP:0003677	Slow progression
OMIM:614373	FUS	2521	HP:0000007	Autosomal recessive inheritance
OMIM:614373	FUS	2521	HP:0002127	Abnormal upper motor neuron morphology
OMIM:614373	FUS	2521	HP:0002366	Abnormal lower motor neuron morphology
OMIM:614373	ALS2	57679	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614373	ALS2	57679	HP:0001257	Spasticity
OMIM:614373	ALS2	57679	HP:0001347	Hyperreflexia
OMIM:614373	ALS2	57679	HP:0003677	Slow progression
OMIM:614373	ALS2	57679	HP:0000007	Autosomal recessive inheritance
OMIM:614373	ALS2	57679	HP:0002127	Abnormal upper motor neuron morphology
OMIM:614373	ALS2	57679	HP:0002366	Abnormal lower motor neuron morphology
OMIM:154800	KIT	3815	HP:0000006	Autosomal dominant inheritance
OMIM:154800	KIT	3815	HP:0002240	Hepatomegaly
OMIM:154800	KIT	3815	HP:0004349	Reduced bone mineral density
OMIM:154800	KIT	3815	HP:0100585	Telangiectasia of the skin
OMIM:154800	KIT	3815	HP:0001034	Hypermelanotic macule
OMIM:154800	KIT	3815	HP:0002039	Anorexia
OMIM:154800	KIT	3815	HP:0002099	Asthma
OMIM:154800	KIT	3815	HP:0002093	Respiratory insufficiency
OMIM:154800	KIT	3815	HP:0002014	Diarrhea
OMIM:154800	KIT	3815	HP:0002239	Gastrointestinal hemorrhage
OMIM:154800	KIT	3815	HP:0001025	Urticaria
OMIM:154800	KIT	3815	HP:0000989	Pruritus
OMIM:154800	KIT	3815	HP:0002757	Recurrent fractures
OMIM:154800	KIT	3815	HP:0002017	Nausea and vomiting
OMIM:154800	KIT	3815	HP:0002488	Acute leukemia
OMIM:154800	KIT	3815	HP:0002076	Migraine
OMIM:154800	KIT	3815	HP:0003072	Hypercalcemia
OMIM:154800	KIT	3815	HP:0100242	Sarcoma
OMIM:154800	KIT	3815	HP:0000246	Sinusitis
OMIM:154800	KIT	3815	HP:0001744	Splenomegaly
OMIM:154800	KIT	3815	HP:0001645	Sudden cardiac death
OMIM:208900	ATM	472	HP:0000778	Hypoplasia of the thymus
OMIM:208900	ATM	472	HP:0000639	Nystagmus
OMIM:208900	ATM	472	HP:0001332	Dystonia
OMIM:208900	ATM	472	HP:0008669	Abnormal spermatogenesis
OMIM:208900	ATM	472	HP:0000819	Diabetes mellitus
OMIM:208900	ATM	472	HP:0002110	Bronchiectasis
OMIM:208900	ATM	472	HP:0000246	Sinusitis
OMIM:208900	ATM	472	HP:0005407	Decreased number of CD4+ T cells
OMIM:208900	ATM	472	HP:0001260	Dysarthria
OMIM:208900	ATM	472	HP:0001315	Reduced tendon reflexes
OMIM:208900	ATM	472	HP:0001595	Abnormality of the hair
OMIM:208900	ATM	472	HP:0001909	Leukemia
OMIM:208900	ATM	472	HP:0000007	Autosomal recessive inheritance
OMIM:208900	ATM	472	HP:0000833	Glucose intolerance
OMIM:208900	ATM	472	HP:0001336	Myoclonus
OMIM:208900	ATM	472	HP:0001337	Tremor
OMIM:208900	ATM	472	HP:0004322	Short stature
OMIM:208900	ATM	472	HP:0001251	Ataxia
OMIM:208900	ATM	472	HP:0001250	Seizures
OMIM:208900	ATM	472	HP:0000957	Cafe-au-lait spot
OMIM:208900	ATM	472	HP:0000486	Strabismus
OMIM:208900	ATM	472	HP:0002837	Recurrent bronchitis
OMIM:208900	ATM	472	HP:0001266	Choreoathetosis
OMIM:614096	AARS2	57505	HP:0002089	Pulmonary hypoplasia
OMIM:614096	AARS2	57505	HP:0002353	EEG abnormality
OMIM:614096	AARS2	57505	HP:0001522	Death in infancy
OMIM:614096	AARS2	57505	HP:0001508	Failure to thrive
OMIM:614096	AARS2	57505	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614096	AARS2	57505	HP:0003324	Generalized muscle weakness
OMIM:614096	AARS2	57505	HP:0003128	Lactic acidosis
OMIM:614096	AARS2	57505	HP:0002151	Increased serum lactate
OMIM:614096	AARS2	57505	HP:0000007	Autosomal recessive inheritance
OMIM:105830	UBE3A	7337	HP:0000158	Macroglossia
OMIM:105830	UBE3A	7337	HP:0000635	Blue irides
OMIM:105830	UBE3A	7337	HP:0002307	Drooling
OMIM:105830	UBE3A	7337	HP:0000639	Nystagmus
OMIM:105830	UBE3A	7337	HP:0001252	Muscular hypotonia
OMIM:105830	UBE3A	7337	HP:0100543	Cognitive impairment
OMIM:105830	UBE3A	7337	HP:0001270	Motor delay
OMIM:105830	UBE3A	7337	HP:0002120	Cerebral cortical atrophy
OMIM:105830	UBE3A	7337	HP:0000327	Hypoplasia of the maxilla
OMIM:105830	UBE3A	7337	HP:0000708	Behavioral abnormality
OMIM:105830	UBE3A	7337	HP:0002019	Constipation
OMIM:105830	UBE3A	7337	HP:0003745	Sporadic
OMIM:105830	UBE3A	7337	HP:0001263	Global developmental delay
OMIM:105830	UBE3A	7337	HP:0001347	Hyperreflexia
OMIM:105830	UBE3A	7337	HP:0001344	Absent speech
OMIM:105830	UBE3A	7337	HP:0000303	Mandibular prognathia
OMIM:105830	UBE3A	7337	HP:0000545	Myopia
OMIM:105830	UBE3A	7337	HP:0000154	Wide mouth
OMIM:105830	UBE3A	7337	HP:0008872	Feeding difficulties in infancy
OMIM:105830	UBE3A	7337	HP:0001513	Obesity
OMIM:105830	UBE3A	7337	HP:0000164	Abnormality of the teeth
OMIM:105830	UBE3A	7337	HP:0001250	Seizures
OMIM:105830	UBE3A	7337	HP:0000248	Brachycephaly
OMIM:105830	UBE3A	7337	HP:0000272	Malar flattening
OMIM:105830	UBE3A	7337	HP:0002353	EEG abnormality
OMIM:105830	UBE3A	7337	HP:0010864	Intellectual disability, severe
OMIM:105830	UBE3A	7337	HP:0004299	Hernia of the abdominal wall
OMIM:105830	UBE3A	7337	HP:0000752	Hyperactivity
OMIM:105830	UBE3A	7337	HP:0000577	Exotropia
OMIM:105830	UBE3A	7337	HP:0001010	Hypopigmentation of the skin
OMIM:105830	UBE3A	7337	HP:0000687	Widely spaced teeth
OMIM:105830	UBE3A	7337	HP:0006887	Intellectual disability, progressive
OMIM:105830	UBE3A	7337	HP:0002650	Scoliosis
OMIM:105830	UBE3A	7337	HP:0005469	Flat occiput
OMIM:105830	UBE3A	7337	HP:0005484	Postnatal microcephaly
OMIM:105830	UBE3A	7337	HP:0000006	Autosomal dominant inheritance
OMIM:105830	UBE3A	7337	HP:0010808	Protruding tongue
OMIM:105830	UBE3A	7337	HP:0002167	Neurological speech impairment
OMIM:105830	UBE3A	7337	HP:0000490	Deeply set eye
OMIM:105830	UBE3A	7337	HP:0000486	Strabismus
OMIM:105830	UBE3A	7337	HP:0000157	Abnormality of the tongue
OMIM:105830	UBE3A	7337	HP:0002311	Incoordination
OMIM:219200	ATP6V0A2	23545	HP:0000252	Microcephaly
OMIM:219200	ATP6V0A2	23545	HP:0000494	Downslanted palpebral fissures
OMIM:219200	ATP6V0A2	23545	HP:0001270	Motor delay
OMIM:219200	ATP6V0A2	23545	HP:0000160	Narrow mouth
OMIM:219200	ATP6V0A2	23545	HP:0008872	Feeding difficulties in infancy
OMIM:219200	ATP6V0A2	23545	HP:0000272	Malar flattening
OMIM:219200	ATP6V0A2	23545	HP:0011800	Hypoplasia of midface
OMIM:219200	ATP6V0A2	23545	HP:0001252	Muscular hypotonia
OMIM:219200	ATP6V0A2	23545	HP:0001511	Intrauterine growth retardation
OMIM:219200	ATP6V0A2	23545	HP:0000973	Cutis laxa
OMIM:219200	ATP6V0A2	23545	HP:0000343	Long philtrum
OMIM:219200	ATP6V0A2	23545	HP:0000007	Autosomal recessive inheritance
OMIM:219200	ATP6V0A2	23545	HP:0000670	Carious teeth
OMIM:219200	ATP6V0A2	23545	HP:0003196	Short nose
OMIM:219200	ATP6V0A2	23545	HP:0000545	Myopia
OMIM:219200	ATP6V0A2	23545	HP:0009125	Lipodystrophy
OMIM:219200	ATP6V0A2	23545	HP:0000369	Low-set ears
OMIM:219200	ATP6V0A2	23545	HP:0000023	Inguinal hernia
OMIM:219200	ATP6V0A2	23545	HP:0000218	High palate
OMIM:219200	ATP6V0A2	23545	HP:0001508	Failure to thrive
OMIM:219200	ATP6V0A2	23545	HP:0002650	Scoliosis
OMIM:219200	ATP6V0A2	23545	HP:0002208	Coarse hair
OMIM:219200	ATP6V0A2	23545	HP:0000463	Anteverted nares
OMIM:219200	ATP6V0A2	23545	HP:0001249	Intellectual disability
OMIM:219200	ATP6V0A2	23545	HP:0002007	Frontal bossing
OMIM:219200	ATP6V0A2	23545	HP:0001305	Dandy-Walker malformation
OMIM:219200	ATP6V0A2	23545	HP:0012368	Flat face
OMIM:219200	ATP6V0A2	23545	HP:0001582	Redundant skin
OMIM:219200	ATP6V0A2	23545	HP:0000486	Strabismus
OMIM:219200	ATP6V0A2	23545	HP:0001250	Seizures
OMIM:219200	ATP6V0A2	23545	HP:0001302	Pachygyria
OMIM:219200	ATP6V0A2	23545	HP:0002126	Polymicrogyria
OMIM:219200	ATP6V0A2	23545	HP:0001382	Joint hypermobility
OMIM:219200	ATP6V0A2	23545	HP:0001374	Congenital hip dislocation
OMIM:219200	ATP6V0A2	23545	HP:0001763	Pes planus
OMIM:253000	GALNS	2588	HP:0002650	Scoliosis
OMIM:253000	GALNS	2588	HP:0002091	Restrictive lung disease
OMIM:253000	GALNS	2588	HP:0000303	Mandibular prognathia
OMIM:253000	GALNS	2588	HP:0002240	Hepatomegaly
OMIM:253000	GALNS	2588	HP:0002673	Coxa valga
OMIM:253000	GALNS	2588	HP:0002857	Genu valgum
OMIM:253000	GALNS	2588	HP:0001654	Abnormality of the heart valves
OMIM:253000	GALNS	2588	HP:0003016	Metaphyseal widening
OMIM:253000	GALNS	2588	HP:0003307	Hyperlordosis
OMIM:253000	GALNS	2588	HP:0000904	Flaring of rib cage
OMIM:253000	GALNS	2588	HP:0000007	Autosomal recessive inheritance
OMIM:253000	GALNS	2588	HP:0000280	Coarse facial features
OMIM:253000	GALNS	2588	HP:0003521	Disproportionate short-trunk short stature
OMIM:253000	GALNS	2588	HP:0000687	Widely spaced teeth
OMIM:253000	GALNS	2588	HP:0000926	Platyspondyly
OMIM:253000	GALNS	2588	HP:0002788	Recurrent upper respiratory tract infections
OMIM:253000	GALNS	2588	HP:0000365	Hearing impairment
OMIM:253000	GALNS	2588	HP:0000939	Osteoporosis
OMIM:253000	GALNS	2588	HP:0000670	Carious teeth
OMIM:253000	GALNS	2588	HP:0003621	Juvenile onset
OMIM:253000	GALNS	2588	HP:0003300	Ovoid vertebral bodies
OMIM:253000	GALNS	2588	HP:0001388	Joint laxity
OMIM:253000	GALNS	2588	HP:0007759	Opacification of the corneal stroma
OMIM:253000	GALNS	2588	HP:0002808	Kyphosis
OMIM:253000	GALNS	2588	HP:0000023	Inguinal hernia
OMIM:253000	GALNS	2588	HP:0003311	Hypoplasia of the odontoid process
OMIM:253000	GALNS	2588	HP:0000154	Wide mouth
OMIM:147100	IGHG1	3500	HP:0000006	Autosomal dominant inheritance
OMIM:259100	HPGD	3248	HP:0001376	Limitation of joint mobility
OMIM:259100	HPGD	3248	HP:0002992	Abnormality of the tibia
OMIM:259100	HPGD	3248	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:259100	HPGD	3248	HP:0000218	High palate
OMIM:259100	HPGD	3248	HP:0002829	Arthralgia
OMIM:259100	HPGD	3248	HP:0001369	Arthritis
OMIM:259100	HPGD	3248	HP:0000767	Pectus excavatum
OMIM:259100	HPGD	3248	HP:0000280	Coarse facial features
OMIM:259100	HPGD	3248	HP:0000939	Osteoporosis
OMIM:259100	HPGD	3248	HP:0000508	Ptosis
OMIM:259100	HPGD	3248	HP:0000975	Hyperhidrosis
OMIM:259100	HPGD	3248	HP:0001643	Patent ductus arteriosus
OMIM:259100	HPGD	3248	HP:0001217	Clubbing
OMIM:259100	HPGD	3248	HP:0002758	Osteoarthritis
OMIM:259100	HPGD	3248	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:259100	HPGD	3248	HP:0000007	Autosomal recessive inheritance
OMIM:259100	HPGD	3248	HP:0004097	Deviation of finger
OMIM:259100	HPGD	3248	HP:0001582	Redundant skin
OMIM:259100	HPGD	3248	HP:0000239	Large fontanelles
OMIM:259100	HPGD	3248	HP:0002684	Thickened calvaria
OMIM:259100	HPGD	3248	HP:0002645	Wormian bones
OMIM:259100	HPGD	3248	HP:0002815	Abnormality of the knees
OMIM:259100	HPGD	3248	HP:0003577	Congenital onset
OMIM:259100	HPGD	3248	HP:0001051	Seborrheic dermatitis
OMIM:259100	HPGD	3248	HP:0003103	Abnormal cortical bone morphology
OMIM:259100	HPGD	3248	HP:0100760	Clubbing of toes
OMIM:259100	HPGD	3248	HP:0000976	Eczematoid dermatitis
OMIM:259100	HPGD	3248	HP:0000938	Osteopenia
OMIM:259100	SLCO2A1	6578	HP:0001376	Limitation of joint mobility
OMIM:259100	SLCO2A1	6578	HP:0002992	Abnormality of the tibia
OMIM:259100	SLCO2A1	6578	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:259100	SLCO2A1	6578	HP:0000218	High palate
OMIM:259100	SLCO2A1	6578	HP:0002829	Arthralgia
OMIM:259100	SLCO2A1	6578	HP:0001369	Arthritis
OMIM:259100	SLCO2A1	6578	HP:0000767	Pectus excavatum
OMIM:259100	SLCO2A1	6578	HP:0000280	Coarse facial features
OMIM:259100	SLCO2A1	6578	HP:0000939	Osteoporosis
OMIM:259100	SLCO2A1	6578	HP:0000508	Ptosis
OMIM:259100	SLCO2A1	6578	HP:0000975	Hyperhidrosis
OMIM:259100	SLCO2A1	6578	HP:0001643	Patent ductus arteriosus
OMIM:259100	SLCO2A1	6578	HP:0001217	Clubbing
OMIM:259100	SLCO2A1	6578	HP:0002758	Osteoarthritis
OMIM:259100	SLCO2A1	6578	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:259100	SLCO2A1	6578	HP:0000007	Autosomal recessive inheritance
OMIM:259100	SLCO2A1	6578	HP:0004097	Deviation of finger
OMIM:259100	SLCO2A1	6578	HP:0001582	Redundant skin
OMIM:259100	SLCO2A1	6578	HP:0000239	Large fontanelles
OMIM:259100	SLCO2A1	6578	HP:0002684	Thickened calvaria
OMIM:259100	SLCO2A1	6578	HP:0002645	Wormian bones
OMIM:259100	SLCO2A1	6578	HP:0002815	Abnormality of the knees
OMIM:259100	SLCO2A1	6578	HP:0003577	Congenital onset
OMIM:259100	SLCO2A1	6578	HP:0001051	Seborrheic dermatitis
OMIM:259100	SLCO2A1	6578	HP:0003103	Abnormal cortical bone morphology
OMIM:259100	SLCO2A1	6578	HP:0100760	Clubbing of toes
OMIM:259100	SLCO2A1	6578	HP:0000976	Eczematoid dermatitis
OMIM:259100	SLCO2A1	6578	HP:0000938	Osteopenia
OMIM:613652	C4A	720	HP:0005356	Decreased serum complement factor I
OMIM:613652	C4A	720	HP:0002725	Systemic lupus erythematosus
OMIM:613652	C4A	720	HP:0002719	Recurrent infections
OMIM:613652	C4A	720	HP:0000007	Autosomal recessive inheritance
OMIM:613652	C4B	721	HP:0005356	Decreased serum complement factor I
OMIM:613652	C4B	721	HP:0002725	Systemic lupus erythematosus
OMIM:613652	C4B	721	HP:0002719	Recurrent infections
OMIM:613652	C4B	721	HP:0000007	Autosomal recessive inheritance
OMIM:613652	SERPING1	710	HP:0005356	Decreased serum complement factor I
OMIM:613652	SERPING1	710	HP:0002725	Systemic lupus erythematosus
OMIM:613652	SERPING1	710	HP:0002719	Recurrent infections
OMIM:613652	SERPING1	710	HP:0000007	Autosomal recessive inheritance
OMIM:613652	C1QA	712	HP:0005356	Decreased serum complement factor I
OMIM:613652	C1QA	712	HP:0002725	Systemic lupus erythematosus
OMIM:613652	C1QA	712	HP:0002719	Recurrent infections
OMIM:613652	C1QA	712	HP:0000007	Autosomal recessive inheritance
OMIM:613652	C1QB	713	HP:0005356	Decreased serum complement factor I
OMIM:613652	C1QB	713	HP:0002725	Systemic lupus erythematosus
OMIM:613652	C1QB	713	HP:0002719	Recurrent infections
OMIM:613652	C1QB	713	HP:0000007	Autosomal recessive inheritance
OMIM:613652	C1QC	714	HP:0005356	Decreased serum complement factor I
OMIM:613652	C1QC	714	HP:0002725	Systemic lupus erythematosus
OMIM:613652	C1QC	714	HP:0002719	Recurrent infections
OMIM:613652	C1QC	714	HP:0000007	Autosomal recessive inheritance
OMIM:613652	C1R	715	HP:0005356	Decreased serum complement factor I
OMIM:613652	C1R	715	HP:0002725	Systemic lupus erythematosus
OMIM:613652	C1R	715	HP:0002719	Recurrent infections
OMIM:613652	C1R	715	HP:0000007	Autosomal recessive inheritance
OMIM:613652	C1S	716	HP:0005356	Decreased serum complement factor I
OMIM:613652	C1S	716	HP:0002725	Systemic lupus erythematosus
OMIM:613652	C1S	716	HP:0002719	Recurrent infections
OMIM:613652	C1S	716	HP:0000007	Autosomal recessive inheritance
OMIM:613652	C2	717	HP:0005356	Decreased serum complement factor I
OMIM:613652	C2	717	HP:0002725	Systemic lupus erythematosus
OMIM:613652	C2	717	HP:0002719	Recurrent infections
OMIM:613652	C2	717	HP:0000007	Autosomal recessive inheritance
OMIM:269500	SOST	50964	HP:0002007	Frontal bossing
OMIM:269500	SOST	50964	HP:0000365	Hearing impairment
OMIM:269500	SOST	50964	HP:0000303	Mandibular prognathia
OMIM:269500	SOST	50964	HP:0000565	Esotropia
OMIM:269500	SOST	50964	HP:0004097	Deviation of finger
OMIM:269500	SOST	50964	HP:0000007	Autosomal recessive inheritance
OMIM:269500	SOST	50964	HP:0002315	Headache
OMIM:269500	SOST	50964	HP:0000431	Wide nasal bridge
OMIM:269500	SOST	50964	HP:0000272	Malar flattening
OMIM:269500	SOST	50964	HP:0100543	Cognitive impairment
OMIM:269500	SOST	50964	HP:0000648	Optic atrophy
OMIM:269500	SOST	50964	HP:0005280	Depressed nasal bridge
OMIM:269500	SOST	50964	HP:0000316	Hypertelorism
OMIM:269500	SOST	50964	HP:0011800	Hypoplasia of midface
OMIM:269500	SOST	50964	HP:0000520	Proptosis
OMIM:269500	SOST	50964	HP:0000639	Nystagmus
OMIM:269500	SOST	50964	HP:0001699	Sudden death
OMIM:269500	SOST	50964	HP:0001133	Constriction of peripheral visual field
OMIM:269500	SOST	50964	HP:0002164	Nail dysplasia
OMIM:269500	SOST	50964	HP:0001548	Overgrowth
OMIM:269500	SOST	50964	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:269500	SOST	50964	HP:0000916	Broad clavicles
OMIM:269500	SOST	50964	HP:0000689	Dental malocclusion
OMIM:269500	SOST	50964	HP:0000572	Visual loss
OMIM:269500	LRP4	4038	HP:0002007	Frontal bossing
OMIM:269500	LRP4	4038	HP:0000365	Hearing impairment
OMIM:269500	LRP4	4038	HP:0000303	Mandibular prognathia
OMIM:269500	LRP4	4038	HP:0000565	Esotropia
OMIM:269500	LRP4	4038	HP:0004097	Deviation of finger
OMIM:269500	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:269500	LRP4	4038	HP:0002315	Headache
OMIM:269500	LRP4	4038	HP:0000431	Wide nasal bridge
OMIM:269500	LRP4	4038	HP:0000272	Malar flattening
OMIM:269500	LRP4	4038	HP:0100543	Cognitive impairment
OMIM:269500	LRP4	4038	HP:0000648	Optic atrophy
OMIM:269500	LRP4	4038	HP:0005280	Depressed nasal bridge
OMIM:269500	LRP4	4038	HP:0000316	Hypertelorism
OMIM:269500	LRP4	4038	HP:0011800	Hypoplasia of midface
OMIM:269500	LRP4	4038	HP:0000520	Proptosis
OMIM:269500	LRP4	4038	HP:0000639	Nystagmus
OMIM:269500	LRP4	4038	HP:0001699	Sudden death
OMIM:269500	LRP4	4038	HP:0001133	Constriction of peripheral visual field
OMIM:269500	LRP4	4038	HP:0002164	Nail dysplasia
OMIM:269500	LRP4	4038	HP:0001548	Overgrowth
OMIM:269500	LRP4	4038	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:269500	LRP4	4038	HP:0000916	Broad clavicles
OMIM:269500	LRP4	4038	HP:0000689	Dental malocclusion
OMIM:269500	LRP4	4038	HP:0000572	Visual loss
OMIM:269150	SETBP1	26040	HP:0000474	Thickened nuchal skin fold
OMIM:269150	SETBP1	26040	HP:0000347	Micrognathia
OMIM:269150	SETBP1	26040	HP:0000126	Hydronephrosis
OMIM:269150	SETBP1	26040	HP:0002983	Micromelia
OMIM:269150	SETBP1	26040	HP:0000272	Malar flattening
OMIM:269150	SETBP1	26040	HP:0000047	Hypospadias
OMIM:269150	SETBP1	26040	HP:0001561	Polyhydramnios
OMIM:269150	SETBP1	26040	HP:0000368	Low-set, posteriorly rotated ears
OMIM:269150	SETBP1	26040	HP:0000998	Hypertrichosis
OMIM:269150	SETBP1	26040	HP:0006487	Bowing of the long bones
OMIM:269150	SETBP1	26040	HP:0001231	Abnormality of the fingernails
OMIM:269150	SETBP1	26040	HP:0001163	Abnormality of the metacarpal bones
OMIM:269150	SETBP1	26040	HP:0000046	Scrotal hypoplasia
OMIM:269150	SETBP1	26040	HP:0100543	Cognitive impairment
OMIM:269150	SETBP1	26040	HP:0000157	Abnormality of the tongue
OMIM:269150	SETBP1	26040	HP:0001631	Atria septal defect
OMIM:269150	SETBP1	26040	HP:0000470	Short neck
OMIM:269150	SETBP1	26040	HP:0000505	Visual impairment
OMIM:269150	SETBP1	26040	HP:0004331	Decreased skull ossification
OMIM:269150	SETBP1	26040	HP:0000482	Microcornea
OMIM:269150	SETBP1	26040	HP:0007759	Opacification of the corneal stroma
OMIM:269150	SETBP1	26040	HP:0000954	Single transverse palmar crease
OMIM:269150	SETBP1	26040	HP:0008897	Postnatal growth retardation
OMIM:269150	SETBP1	26040	HP:0004299	Hernia of the abdominal wall
OMIM:269150	SETBP1	26040	HP:0000252	Microcephaly
OMIM:269150	SETBP1	26040	HP:0000377	Abnormality of the pinna
OMIM:269150	SETBP1	26040	HP:0001739	Abnormality of the nasopharynx
OMIM:269150	SETBP1	26040	HP:0000316	Hypertelorism
OMIM:269150	SETBP1	26040	HP:0001250	Seizures
OMIM:269150	SETBP1	26040	HP:0000006	Autosomal dominant inheritance
OMIM:269150	SETBP1	26040	HP:0010034	Short 1st metacarpal
OMIM:269150	SETBP1	26040	HP:0002974	Radioulnar synostosis
OMIM:269150	SETBP1	26040	HP:0011220	Prominent forehead
OMIM:269150	SETBP1	26040	HP:0000280	Coarse facial features
OMIM:269150	SETBP1	26040	HP:0005280	Depressed nasal bridge
OMIM:269150	SETBP1	26040	HP:0001762	Talipes equinovarus
OMIM:269150	SETBP1	26040	HP:0000452	Choanal stenosis
OMIM:269150	SETBP1	26040	HP:0002650	Scoliosis
OMIM:269150	SETBP1	26040	HP:0000340	Sloping forehead
OMIM:269150	SETBP1	26040	HP:0000889	Abnormality of the clavicle
OMIM:269150	SETBP1	26040	HP:0002982	Tibial bowing
OMIM:269150	SETBP1	26040	HP:0000028	Cryptorchidism
OMIM:269150	SETBP1	26040	HP:0000348	High forehead
OMIM:269150	SETBP1	26040	HP:0000520	Proptosis
OMIM:269150	SETBP1	26040	HP:0001883	Talipes
OMIM:269150	SETBP1	26040	HP:0000072	Hydroureter
OMIM:269150	SETBP1	26040	HP:0000407	Sensorineural hearing impairment
OMIM:269150	SETBP1	26040	HP:0008736	Hypoplasia of penis
OMIM:269150	SETBP1	26040	HP:0009882	Short distal phalanx of finger
OMIM:269150	SETBP1	26040	HP:0000813	Bicornuate uterus
OMIM:269150	SETBP1	26040	HP:0001838	Rocker bottom foot
OMIM:269150	SETBP1	26040	HP:0000341	Narrow forehead
OMIM:269150	SETBP1	26040	HP:0000463	Anteverted nares
OMIM:269150	SETBP1	26040	HP:0000158	Macroglossia
OMIM:269150	SETBP1	26040	HP:0001252	Muscular hypotonia
OMIM:269150	SETBP1	26040	HP:0100627	Displacement of the external urethral meatus
OMIM:269150	SETBP1	26040	HP:0011800	Hypoplasia of midface
OMIM:269150	SETBP1	26040	HP:0001161	Hand polydactyly
OMIM:269150	SETBP1	26040	HP:0001601	Laryngomalacia
OMIM:269150	SETBP1	26040	HP:0002119	Ventriculomegaly
OMIM:269150	SETBP1	26040	HP:0000648	Optic atrophy
OMIM:269150	SETBP1	26040	HP:0004279	Short palm
OMIM:269150	SETBP1	26040	HP:0004492	Widely patent fontanelles and sutures
OMIM:269150	SETBP1	26040	HP:0000054	Micropenis
OMIM:269150	SETBP1	26040	HP:0001508	Failure to thrive
OMIM:269150	SETBP1	26040	HP:0001276	Hypertonia
OMIM:269150	SETBP1	26040	HP:0000879	Short sternum
OMIM:269150	SETBP1	26040	HP:0003196	Short nose
OMIM:269150	SETBP1	26040	HP:0000369	Low-set ears
OMIM:269150	SETBP1	26040	HP:0002557	Hypoplastic nipples
OMIM:269150	SETBP1	26040	HP:0000076	Vesicoureteral reflux
OMIM:269150	SETBP1	26040	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:269150	SETBP1	26040	HP:0000772	Abnormality of the ribs
OMIM:269150	SETBP1	26040	HP:0002521	Hypsarrhythmia
OMIM:269150	SETBP1	26040	HP:0002079	Hypoplasia of the corpus callosum
OMIM:269150	SETBP1	26040	HP:0100490	Camptodactyly of finger
OMIM:269150	SETBP1	26040	HP:0002179	Opisthotonus
OMIM:269150	SETBP1	26040	HP:0002645	Wormian bones
OMIM:269150	SETBP1	26040	HP:0000453	Choanal atresia
OMIM:269150	SETBP1	26040	HP:0009104	Aplasia/Hypoplasia of the pubic bone
OMIM:269150	SETBP1	26040	HP:0001162	Postaxial hand polydactyly
OMIM:269150	SETBP1	26040	HP:0002059	Cerebral atrophy
OMIM:269150	SETBP1	26040	HP:0002007	Frontal bossing
OMIM:269150	SETBP1	26040	HP:0000055	Abnormality of female external genitalia
OMIM:269150	SETBP1	26040	HP:0000486	Strabismus
OMIM:269150	SETBP1	26040	HP:0100539	Periorbital edema
OMIM:269150	SETBP1	26040	HP:0001773	Short foot
OMIM:269150	SETBP1	26040	HP:0000821	Hypothyroidism
OMIM:269150	SETBP1	26040	HP:0003103	Abnormal cortical bone morphology
OMIM:269150	SETBP1	26040	HP:0004348	Abnormality of bone mineral density
OMIM:269150	SETBP1	26040	HP:0001249	Intellectual disability
OMIM:614162	IL17RC	84818	HP:0004322	Short stature
OMIM:614162	IL17RC	84818	HP:0000819	Diabetes mellitus
OMIM:614162	IL17RC	84818	HP:0000964	Eczema
OMIM:614162	IL17RC	84818	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:614162	IL17RC	84818	HP:0011473	Villous atrophy
OMIM:614162	IL17RC	84818	HP:0000006	Autosomal dominant inheritance
OMIM:614162	IL17RC	84818	HP:0000938	Osteopenia
OMIM:614162	IL17RC	84818	HP:0002721	Immunodeficiency
OMIM:614162	IL17RC	84818	HP:0002205	Recurrent respiratory infections
OMIM:614162	IL17RC	84818	HP:0000821	Hypothyroidism
OMIM:614162	IL17RC	84818	HP:0002014	Diarrhea
OMIM:614162	STAT1	6772	HP:0004322	Short stature
OMIM:614162	STAT1	6772	HP:0000819	Diabetes mellitus
OMIM:614162	STAT1	6772	HP:0000964	Eczema
OMIM:614162	STAT1	6772	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:614162	STAT1	6772	HP:0011473	Villous atrophy
OMIM:614162	STAT1	6772	HP:0000006	Autosomal dominant inheritance
OMIM:614162	STAT1	6772	HP:0000938	Osteopenia
OMIM:614162	STAT1	6772	HP:0002721	Immunodeficiency
OMIM:614162	STAT1	6772	HP:0002205	Recurrent respiratory infections
OMIM:614162	STAT1	6772	HP:0000821	Hypothyroidism
OMIM:614162	STAT1	6772	HP:0002014	Diarrhea
OMIM:614162	CLEC7A	64581	HP:0004322	Short stature
OMIM:614162	CLEC7A	64581	HP:0000819	Diabetes mellitus
OMIM:614162	CLEC7A	64581	HP:0000964	Eczema
OMIM:614162	CLEC7A	64581	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:614162	CLEC7A	64581	HP:0011473	Villous atrophy
OMIM:614162	CLEC7A	64581	HP:0000006	Autosomal dominant inheritance
OMIM:614162	CLEC7A	64581	HP:0000938	Osteopenia
OMIM:614162	CLEC7A	64581	HP:0002721	Immunodeficiency
OMIM:614162	CLEC7A	64581	HP:0002205	Recurrent respiratory infections
OMIM:614162	CLEC7A	64581	HP:0000821	Hypothyroidism
OMIM:614162	CLEC7A	64581	HP:0002014	Diarrhea
OMIM:614162	IL17RA	23765	HP:0004322	Short stature
OMIM:614162	IL17RA	23765	HP:0000819	Diabetes mellitus
OMIM:614162	IL17RA	23765	HP:0000964	Eczema
OMIM:614162	IL17RA	23765	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:614162	IL17RA	23765	HP:0011473	Villous atrophy
OMIM:614162	IL17RA	23765	HP:0000006	Autosomal dominant inheritance
OMIM:614162	IL17RA	23765	HP:0000938	Osteopenia
OMIM:614162	IL17RA	23765	HP:0002721	Immunodeficiency
OMIM:614162	IL17RA	23765	HP:0002205	Recurrent respiratory infections
OMIM:614162	IL17RA	23765	HP:0000821	Hypothyroidism
OMIM:614162	IL17RA	23765	HP:0002014	Diarrhea
OMIM:614162	TRAF3IP2	10758	HP:0004322	Short stature
OMIM:614162	TRAF3IP2	10758	HP:0000819	Diabetes mellitus
OMIM:614162	TRAF3IP2	10758	HP:0000964	Eczema
OMIM:614162	TRAF3IP2	10758	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:614162	TRAF3IP2	10758	HP:0011473	Villous atrophy
OMIM:614162	TRAF3IP2	10758	HP:0000006	Autosomal dominant inheritance
OMIM:614162	TRAF3IP2	10758	HP:0000938	Osteopenia
OMIM:614162	TRAF3IP2	10758	HP:0002721	Immunodeficiency
OMIM:614162	TRAF3IP2	10758	HP:0002205	Recurrent respiratory infections
OMIM:614162	TRAF3IP2	10758	HP:0000821	Hypothyroidism
OMIM:614162	TRAF3IP2	10758	HP:0002014	Diarrhea
OMIM:614162	IL17F	112744	HP:0004322	Short stature
OMIM:614162	IL17F	112744	HP:0000819	Diabetes mellitus
OMIM:614162	IL17F	112744	HP:0000964	Eczema
OMIM:614162	IL17F	112744	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:614162	IL17F	112744	HP:0011473	Villous atrophy
OMIM:614162	IL17F	112744	HP:0000006	Autosomal dominant inheritance
OMIM:614162	IL17F	112744	HP:0000938	Osteopenia
OMIM:614162	IL17F	112744	HP:0002721	Immunodeficiency
OMIM:614162	IL17F	112744	HP:0002205	Recurrent respiratory infections
OMIM:614162	IL17F	112744	HP:0000821	Hypothyroidism
OMIM:614162	IL17F	112744	HP:0002014	Diarrhea
OMIM:614162	CARD9	64170	HP:0004322	Short stature
OMIM:614162	CARD9	64170	HP:0000819	Diabetes mellitus
OMIM:614162	CARD9	64170	HP:0000964	Eczema
OMIM:614162	CARD9	64170	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:614162	CARD9	64170	HP:0011473	Villous atrophy
OMIM:614162	CARD9	64170	HP:0000006	Autosomal dominant inheritance
OMIM:614162	CARD9	64170	HP:0000938	Osteopenia
OMIM:614162	CARD9	64170	HP:0002721	Immunodeficiency
OMIM:614162	CARD9	64170	HP:0002205	Recurrent respiratory infections
OMIM:614162	CARD9	64170	HP:0000821	Hypothyroidism
OMIM:614162	CARD9	64170	HP:0002014	Diarrhea
OMIM:616299	LIPT1	51601	HP:0002151	Increased serum lactate
OMIM:616299	LIPT1	51601	HP:0001410	Decreased liver function
OMIM:616299	LIPT1	51601	HP:0003128	Lactic acidosis
OMIM:616299	LIPT1	51601	HP:0002910	Elevated hepatic transaminases
OMIM:616299	LIPT1	51601	HP:0001332	Dystonia
OMIM:608567	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:608567	MYH6	4624	HP:0000007	Autosomal recessive inheritance
OMIM:608567	MYH6	4624	HP:0001657	Prolonged QT interval
OMIM:608567	MYH6	4624	HP:0001688	Sinus bradycardia
OMIM:608567	MYH6	4624	HP:0003577	Congenital onset
OMIM:608567	MYH6	4624	HP:0001678	Atrioventricular block
OMIM:608567	HCN4	10021	HP:0000006	Autosomal dominant inheritance
OMIM:608567	HCN4	10021	HP:0000007	Autosomal recessive inheritance
OMIM:608567	HCN4	10021	HP:0001657	Prolonged QT interval
OMIM:608567	HCN4	10021	HP:0001688	Sinus bradycardia
OMIM:608567	HCN4	10021	HP:0003577	Congenital onset
OMIM:608567	HCN4	10021	HP:0001678	Atrioventricular block
OMIM:608567	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:608567	SCN5A	6331	HP:0000007	Autosomal recessive inheritance
OMIM:608567	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:608567	SCN5A	6331	HP:0001688	Sinus bradycardia
OMIM:608567	SCN5A	6331	HP:0003577	Congenital onset
OMIM:608567	SCN5A	6331	HP:0001678	Atrioventricular block
OMIM:300088	PCDH19	57526	HP:0002133	Status epilepticus
OMIM:300088	PCDH19	57526	HP:0001249	Intellectual disability
OMIM:300088	PCDH19	57526	HP:0001263	Global developmental delay
OMIM:300088	PCDH19	57526	HP:0003593	Infantile onset
OMIM:300088	PCDH19	57526	HP:0001417	X-linked inheritance
OMIM:300088	PCDH19	57526	HP:0002123	Generalized myoclonic seizures
OMIM:300088	PCDH19	57526	HP:0000718	Aggressive behavior
OMIM:300088	PCDH19	57526	HP:0002121	Absence seizures
OMIM:300088	PCDH19	57526	HP:0000709	Psychosis
OMIM:300088	PCDH19	57526	HP:0010819	Atonic seizures
OMIM:300088	PCDH19	57526	HP:0002069	Generalized tonic-clonic seizures
OMIM:300088	PCDH19	57526	HP:0007359	Focal seizures
OMIM:615529	ALX4	60529	HP:0000006	Autosomal dominant inheritance
OMIM:615529	ALX4	60529	HP:0001363	Craniosynostosis
OMIM:615529	TWIST1	7291	HP:0000006	Autosomal dominant inheritance
OMIM:615529	TWIST1	7291	HP:0001363	Craniosynostosis
OMIM:615529	ERF	2077	HP:0000006	Autosomal dominant inheritance
OMIM:615529	ERF	2077	HP:0001363	Craniosynostosis
OMIM:256450	ABCC8	6833	HP:0001425	Heterogeneous
OMIM:256450	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:256450	ABCC8	6833	HP:0001249	Intellectual disability
OMIM:256450	ABCC8	6833	HP:0000007	Autosomal recessive inheritance
OMIM:156850	VSX2	338917	HP:0000616	Miosis
OMIM:156850	VSX2	338917	HP:0000486	Strabismus
OMIM:156850	VSX2	338917	HP:0000518	Cataract
OMIM:156850	VSX2	338917	HP:0000568	Microphthalmia
OMIM:156850	VSX2	338917	HP:0000639	Nystagmus
OMIM:156850	VSX2	338917	HP:0000006	Autosomal dominant inheritance
OMIM:156850	SOX2	6657	HP:0000616	Miosis
OMIM:156850	SOX2	6657	HP:0000486	Strabismus
OMIM:156850	SOX2	6657	HP:0000518	Cataract
OMIM:156850	SOX2	6657	HP:0000568	Microphthalmia
OMIM:156850	SOX2	6657	HP:0000639	Nystagmus
OMIM:156850	SOX2	6657	HP:0000006	Autosomal dominant inheritance
OMIM:156850	GDF3	9573	HP:0000616	Miosis
OMIM:156850	GDF3	9573	HP:0000486	Strabismus
OMIM:156850	GDF3	9573	HP:0000518	Cataract
OMIM:156850	GDF3	9573	HP:0000568	Microphthalmia
OMIM:156850	GDF3	9573	HP:0000639	Nystagmus
OMIM:156850	GDF3	9573	HP:0000006	Autosomal dominant inheritance
OMIM:156850	OTX2	5015	HP:0000616	Miosis
OMIM:156850	OTX2	5015	HP:0000486	Strabismus
OMIM:156850	OTX2	5015	HP:0000518	Cataract
OMIM:156850	OTX2	5015	HP:0000568	Microphthalmia
OMIM:156850	OTX2	5015	HP:0000639	Nystagmus
OMIM:156850	OTX2	5015	HP:0000006	Autosomal dominant inheritance
OMIM:156850	PRSS56	646960	HP:0000616	Miosis
OMIM:156850	PRSS56	646960	HP:0000486	Strabismus
OMIM:156850	PRSS56	646960	HP:0000518	Cataract
OMIM:156850	PRSS56	646960	HP:0000568	Microphthalmia
OMIM:156850	PRSS56	646960	HP:0000639	Nystagmus
OMIM:156850	PRSS56	646960	HP:0000006	Autosomal dominant inheritance
OMIM:156850	ALDH1A3	220	HP:0000616	Miosis
OMIM:156850	ALDH1A3	220	HP:0000486	Strabismus
OMIM:156850	ALDH1A3	220	HP:0000518	Cataract
OMIM:156850	ALDH1A3	220	HP:0000568	Microphthalmia
OMIM:156850	ALDH1A3	220	HP:0000639	Nystagmus
OMIM:156850	ALDH1A3	220	HP:0000006	Autosomal dominant inheritance
OMIM:156850	SIX6	4990	HP:0000616	Miosis
OMIM:156850	SIX6	4990	HP:0000486	Strabismus
OMIM:156850	SIX6	4990	HP:0000518	Cataract
OMIM:156850	SIX6	4990	HP:0000568	Microphthalmia
OMIM:156850	SIX6	4990	HP:0000639	Nystagmus
OMIM:156850	SIX6	4990	HP:0000006	Autosomal dominant inheritance
OMIM:156850	RAX	30062	HP:0000616	Miosis
OMIM:156850	RAX	30062	HP:0000486	Strabismus
OMIM:156850	RAX	30062	HP:0000518	Cataract
OMIM:156850	RAX	30062	HP:0000568	Microphthalmia
OMIM:156850	RAX	30062	HP:0000639	Nystagmus
OMIM:156850	RAX	30062	HP:0000006	Autosomal dominant inheritance
OMIM:600541	ETV1	2115	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600541	ETV1	2115	HP:0002664	Neoplasm
OMIM:600541	ETV1	2115	HP:0000006	Autosomal dominant inheritance
OMIM:613863	STX1B	112755	HP:0007359	Focal seizures
OMIM:613863	STX1B	112755	HP:0000006	Autosomal dominant inheritance
OMIM:613863	STX1B	112755	HP:0003828	Variable expressivity
OMIM:613863	STX1B	112755	HP:0010819	Atonic seizures
OMIM:613863	STX1B	112755	HP:0002121	Absence seizures
OMIM:613863	STX1B	112755	HP:0002373	Febrile seizures
OMIM:613863	STX1B	112755	HP:0002069	Generalized tonic-clonic seizures
OMIM:613863	SCN1A	6323	HP:0007359	Focal seizures
OMIM:613863	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:613863	SCN1A	6323	HP:0003828	Variable expressivity
OMIM:613863	SCN1A	6323	HP:0010819	Atonic seizures
OMIM:613863	SCN1A	6323	HP:0002121	Absence seizures
OMIM:613863	SCN1A	6323	HP:0002373	Febrile seizures
OMIM:613863	SCN1A	6323	HP:0002069	Generalized tonic-clonic seizures
OMIM:613863	GABRD	2563	HP:0007359	Focal seizures
OMIM:613863	GABRD	2563	HP:0000006	Autosomal dominant inheritance
OMIM:613863	GABRD	2563	HP:0003828	Variable expressivity
OMIM:613863	GABRD	2563	HP:0010819	Atonic seizures
OMIM:613863	GABRD	2563	HP:0002121	Absence seizures
OMIM:613863	GABRD	2563	HP:0002373	Febrile seizures
OMIM:613863	GABRD	2563	HP:0002069	Generalized tonic-clonic seizures
OMIM:613863	SCN1B	6324	HP:0007359	Focal seizures
OMIM:613863	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:613863	SCN1B	6324	HP:0003828	Variable expressivity
OMIM:613863	SCN1B	6324	HP:0010819	Atonic seizures
OMIM:613863	SCN1B	6324	HP:0002121	Absence seizures
OMIM:613863	SCN1B	6324	HP:0002373	Febrile seizures
OMIM:613863	SCN1B	6324	HP:0002069	Generalized tonic-clonic seizures
OMIM:613863	SCN2A	6326	HP:0007359	Focal seizures
OMIM:613863	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:613863	SCN2A	6326	HP:0003828	Variable expressivity
OMIM:613863	SCN2A	6326	HP:0010819	Atonic seizures
OMIM:613863	SCN2A	6326	HP:0002121	Absence seizures
OMIM:613863	SCN2A	6326	HP:0002373	Febrile seizures
OMIM:613863	SCN2A	6326	HP:0002069	Generalized tonic-clonic seizures
OMIM:613863	GABRG2	2566	HP:0007359	Focal seizures
OMIM:613863	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:613863	GABRG2	2566	HP:0003828	Variable expressivity
OMIM:613863	GABRG2	2566	HP:0010819	Atonic seizures
OMIM:613863	GABRG2	2566	HP:0002121	Absence seizures
OMIM:613863	GABRG2	2566	HP:0002373	Febrile seizures
OMIM:613863	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:613863	SCN9A	6335	HP:0007359	Focal seizures
OMIM:613863	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:613863	SCN9A	6335	HP:0003828	Variable expressivity
OMIM:613863	SCN9A	6335	HP:0010819	Atonic seizures
OMIM:613863	SCN9A	6335	HP:0002121	Absence seizures
OMIM:613863	SCN9A	6335	HP:0002373	Febrile seizures
OMIM:613863	SCN9A	6335	HP:0002069	Generalized tonic-clonic seizures
OMIM:614808	TREM2	54209	HP:0002380	Fasciculations
OMIM:614808	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	TREM2	54209	HP:0001260	Dysarthria
OMIM:614808	TREM2	54209	HP:0001324	Muscle weakness
OMIM:614808	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:614808	TREM2	54209	HP:0003202	Skeletal muscle atrophy
OMIM:614808	TREM2	54209	HP:0001257	Spasticity
OMIM:614808	TREM2	54209	HP:0002015	Dysphagia
OMIM:614808	VAPB	9217	HP:0002380	Fasciculations
OMIM:614808	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	VAPB	9217	HP:0001260	Dysarthria
OMIM:614808	VAPB	9217	HP:0001324	Muscle weakness
OMIM:614808	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:614808	VAPB	9217	HP:0003202	Skeletal muscle atrophy
OMIM:614808	VAPB	9217	HP:0001257	Spasticity
OMIM:614808	VAPB	9217	HP:0002015	Dysphagia
OMIM:614808	PON1	5444	HP:0002380	Fasciculations
OMIM:614808	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	PON1	5444	HP:0001260	Dysarthria
OMIM:614808	PON1	5444	HP:0001324	Muscle weakness
OMIM:614808	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:614808	PON1	5444	HP:0003202	Skeletal muscle atrophy
OMIM:614808	PON1	5444	HP:0001257	Spasticity
OMIM:614808	PON1	5444	HP:0002015	Dysphagia
OMIM:614808	PON2	5445	HP:0002380	Fasciculations
OMIM:614808	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	PON2	5445	HP:0001260	Dysarthria
OMIM:614808	PON2	5445	HP:0001324	Muscle weakness
OMIM:614808	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:614808	PON2	5445	HP:0003202	Skeletal muscle atrophy
OMIM:614808	PON2	5445	HP:0001257	Spasticity
OMIM:614808	PON2	5445	HP:0002015	Dysphagia
OMIM:614808	PON3	5446	HP:0002380	Fasciculations
OMIM:614808	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	PON3	5446	HP:0001260	Dysarthria
OMIM:614808	PON3	5446	HP:0001324	Muscle weakness
OMIM:614808	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:614808	PON3	5446	HP:0003202	Skeletal muscle atrophy
OMIM:614808	PON3	5446	HP:0001257	Spasticity
OMIM:614808	PON3	5446	HP:0002015	Dysphagia
OMIM:614808	NEFH	4744	HP:0002380	Fasciculations
OMIM:614808	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	NEFH	4744	HP:0001260	Dysarthria
OMIM:614808	NEFH	4744	HP:0001324	Muscle weakness
OMIM:614808	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:614808	NEFH	4744	HP:0003202	Skeletal muscle atrophy
OMIM:614808	NEFH	4744	HP:0001257	Spasticity
OMIM:614808	NEFH	4744	HP:0002015	Dysphagia
OMIM:614808	DAO	1610	HP:0002380	Fasciculations
OMIM:614808	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	DAO	1610	HP:0001260	Dysarthria
OMIM:614808	DAO	1610	HP:0001324	Muscle weakness
OMIM:614808	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:614808	DAO	1610	HP:0003202	Skeletal muscle atrophy
OMIM:614808	DAO	1610	HP:0001257	Spasticity
OMIM:614808	DAO	1610	HP:0002015	Dysphagia
OMIM:614808	TARDBP	23435	HP:0002380	Fasciculations
OMIM:614808	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	TARDBP	23435	HP:0001260	Dysarthria
OMIM:614808	TARDBP	23435	HP:0001324	Muscle weakness
OMIM:614808	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:614808	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:614808	TARDBP	23435	HP:0001257	Spasticity
OMIM:614808	TARDBP	23435	HP:0002015	Dysphagia
OMIM:614808	PPARGC1A	10891	HP:0002380	Fasciculations
OMIM:614808	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	PPARGC1A	10891	HP:0001260	Dysarthria
OMIM:614808	PPARGC1A	10891	HP:0001324	Muscle weakness
OMIM:614808	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:614808	PPARGC1A	10891	HP:0003202	Skeletal muscle atrophy
OMIM:614808	PPARGC1A	10891	HP:0001257	Spasticity
OMIM:614808	PPARGC1A	10891	HP:0002015	Dysphagia
OMIM:614808	ERBB4	2066	HP:0002380	Fasciculations
OMIM:614808	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	ERBB4	2066	HP:0001260	Dysarthria
OMIM:614808	ERBB4	2066	HP:0001324	Muscle weakness
OMIM:614808	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:614808	ERBB4	2066	HP:0003202	Skeletal muscle atrophy
OMIM:614808	ERBB4	2066	HP:0001257	Spasticity
OMIM:614808	ERBB4	2066	HP:0002015	Dysphagia
OMIM:614808	CHCHD10	400916	HP:0002380	Fasciculations
OMIM:614808	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:614808	CHCHD10	400916	HP:0001324	Muscle weakness
OMIM:614808	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:614808	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
OMIM:614808	CHCHD10	400916	HP:0001257	Spasticity
OMIM:614808	CHCHD10	400916	HP:0002015	Dysphagia
OMIM:614808	OPTN	10133	HP:0002380	Fasciculations
OMIM:614808	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	OPTN	10133	HP:0001260	Dysarthria
OMIM:614808	OPTN	10133	HP:0001324	Muscle weakness
OMIM:614808	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:614808	OPTN	10133	HP:0003202	Skeletal muscle atrophy
OMIM:614808	OPTN	10133	HP:0001257	Spasticity
OMIM:614808	OPTN	10133	HP:0002015	Dysphagia
OMIM:614808	FUS	2521	HP:0002380	Fasciculations
OMIM:614808	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	FUS	2521	HP:0001260	Dysarthria
OMIM:614808	FUS	2521	HP:0001324	Muscle weakness
OMIM:614808	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:614808	FUS	2521	HP:0003202	Skeletal muscle atrophy
OMIM:614808	FUS	2521	HP:0001257	Spasticity
OMIM:614808	FUS	2521	HP:0002015	Dysphagia
OMIM:614808	UBQLN2	29978	HP:0002380	Fasciculations
OMIM:614808	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	UBQLN2	29978	HP:0001260	Dysarthria
OMIM:614808	UBQLN2	29978	HP:0001324	Muscle weakness
OMIM:614808	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:614808	UBQLN2	29978	HP:0003202	Skeletal muscle atrophy
OMIM:614808	UBQLN2	29978	HP:0001257	Spasticity
OMIM:614808	UBQLN2	29978	HP:0002015	Dysphagia
OMIM:614808	ANG	283	HP:0002380	Fasciculations
OMIM:614808	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	ANG	283	HP:0001260	Dysarthria
OMIM:614808	ANG	283	HP:0001324	Muscle weakness
OMIM:614808	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:614808	ANG	283	HP:0003202	Skeletal muscle atrophy
OMIM:614808	ANG	283	HP:0001257	Spasticity
OMIM:614808	ANG	283	HP:0002015	Dysphagia
OMIM:614808	C9ORF72	203228	HP:0002380	Fasciculations
OMIM:614808	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:614808	C9ORF72	203228	HP:0001324	Muscle weakness
OMIM:614808	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:614808	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:614808	C9ORF72	203228	HP:0001257	Spasticity
OMIM:614808	C9ORF72	203228	HP:0002015	Dysphagia
OMIM:614808	PFN1	5216	HP:0002380	Fasciculations
OMIM:614808	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	PFN1	5216	HP:0001260	Dysarthria
OMIM:614808	PFN1	5216	HP:0001324	Muscle weakness
OMIM:614808	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:614808	PFN1	5216	HP:0003202	Skeletal muscle atrophy
OMIM:614808	PFN1	5216	HP:0001257	Spasticity
OMIM:614808	PFN1	5216	HP:0002015	Dysphagia
OMIM:614808	ATXN2	6311	HP:0002380	Fasciculations
OMIM:614808	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	ATXN2	6311	HP:0001260	Dysarthria
OMIM:614808	ATXN2	6311	HP:0001324	Muscle weakness
OMIM:614808	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:614808	ATXN2	6311	HP:0003202	Skeletal muscle atrophy
OMIM:614808	ATXN2	6311	HP:0001257	Spasticity
OMIM:614808	ATXN2	6311	HP:0002015	Dysphagia
OMIM:614808	DCTN1	1639	HP:0002380	Fasciculations
OMIM:614808	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	DCTN1	1639	HP:0001260	Dysarthria
OMIM:614808	DCTN1	1639	HP:0001324	Muscle weakness
OMIM:614808	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:614808	DCTN1	1639	HP:0003202	Skeletal muscle atrophy
OMIM:614808	DCTN1	1639	HP:0001257	Spasticity
OMIM:614808	DCTN1	1639	HP:0002015	Dysphagia
OMIM:614808	FIG4	9896	HP:0002380	Fasciculations
OMIM:614808	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	FIG4	9896	HP:0001260	Dysarthria
OMIM:614808	FIG4	9896	HP:0001324	Muscle weakness
OMIM:614808	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:614808	FIG4	9896	HP:0003202	Skeletal muscle atrophy
OMIM:614808	FIG4	9896	HP:0001257	Spasticity
OMIM:614808	FIG4	9896	HP:0002015	Dysphagia
OMIM:614808	HNRNPA1	3178	HP:0002380	Fasciculations
OMIM:614808	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	HNRNPA1	3178	HP:0001260	Dysarthria
OMIM:614808	HNRNPA1	3178	HP:0001324	Muscle weakness
OMIM:614808	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:614808	HNRNPA1	3178	HP:0003202	Skeletal muscle atrophy
OMIM:614808	HNRNPA1	3178	HP:0001257	Spasticity
OMIM:614808	HNRNPA1	3178	HP:0002015	Dysphagia
OMIM:614808	SQSTM1	8878	HP:0002380	Fasciculations
OMIM:614808	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:614808	SQSTM1	8878	HP:0001324	Muscle weakness
OMIM:614808	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:614808	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:614808	SQSTM1	8878	HP:0001257	Spasticity
OMIM:614808	SQSTM1	8878	HP:0002015	Dysphagia
OMIM:614808	UNC13A	23025	HP:0002380	Fasciculations
OMIM:614808	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	UNC13A	23025	HP:0001260	Dysarthria
OMIM:614808	UNC13A	23025	HP:0001324	Muscle weakness
OMIM:614808	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:614808	UNC13A	23025	HP:0003202	Skeletal muscle atrophy
OMIM:614808	UNC13A	23025	HP:0001257	Spasticity
OMIM:614808	UNC13A	23025	HP:0002015	Dysphagia
OMIM:614808	MATR3	9782	HP:0002380	Fasciculations
OMIM:614808	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	MATR3	9782	HP:0001260	Dysarthria
OMIM:614808	MATR3	9782	HP:0001324	Muscle weakness
OMIM:614808	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:614808	MATR3	9782	HP:0003202	Skeletal muscle atrophy
OMIM:614808	MATR3	9782	HP:0001257	Spasticity
OMIM:614808	MATR3	9782	HP:0002015	Dysphagia
OMIM:614808	TBK1	29110	HP:0002380	Fasciculations
OMIM:614808	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	TBK1	29110	HP:0001260	Dysarthria
OMIM:614808	TBK1	29110	HP:0001324	Muscle weakness
OMIM:614808	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:614808	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:614808	TBK1	29110	HP:0001257	Spasticity
OMIM:614808	TBK1	29110	HP:0002015	Dysphagia
OMIM:614808	SOD1	6647	HP:0002380	Fasciculations
OMIM:614808	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	SOD1	6647	HP:0001260	Dysarthria
OMIM:614808	SOD1	6647	HP:0001324	Muscle weakness
OMIM:614808	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:614808	SOD1	6647	HP:0003202	Skeletal muscle atrophy
OMIM:614808	SOD1	6647	HP:0001257	Spasticity
OMIM:614808	SOD1	6647	HP:0002015	Dysphagia
OMIM:614808	VCP	7415	HP:0002380	Fasciculations
OMIM:614808	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	VCP	7415	HP:0001260	Dysarthria
OMIM:614808	VCP	7415	HP:0001324	Muscle weakness
OMIM:614808	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:614808	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:614808	VCP	7415	HP:0001257	Spasticity
OMIM:614808	VCP	7415	HP:0002015	Dysphagia
OMIM:614808	CHMP2B	25978	HP:0002380	Fasciculations
OMIM:614808	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	CHMP2B	25978	HP:0001260	Dysarthria
OMIM:614808	CHMP2B	25978	HP:0001324	Muscle weakness
OMIM:614808	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:614808	CHMP2B	25978	HP:0003202	Skeletal muscle atrophy
OMIM:614808	CHMP2B	25978	HP:0001257	Spasticity
OMIM:614808	CHMP2B	25978	HP:0002015	Dysphagia
OMIM:614808	PRPH	5630	HP:0002380	Fasciculations
OMIM:614808	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614808	PRPH	5630	HP:0001260	Dysarthria
OMIM:614808	PRPH	5630	HP:0001324	Muscle weakness
OMIM:614808	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:614808	PRPH	5630	HP:0003202	Skeletal muscle atrophy
OMIM:614808	PRPH	5630	HP:0001257	Spasticity
OMIM:614808	PRPH	5630	HP:0002015	Dysphagia
OMIM:616494	POLR3B	55703	HP:0002415	Leukodystrophy
OMIM:616494	POLR3B	55703	HP:0001263	Global developmental delay
OMIM:616494	POLR3B	55703	HP:0000164	Abnormality of the teeth
OMIM:616494	POLR3B	55703	HP:0001337	Tremor
OMIM:616494	POLR3B	55703	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616494	POLR3B	55703	HP:0001257	Spasticity
OMIM:616494	POLR3B	55703	HP:0001251	Ataxia
OMIM:616494	POLR3B	55703	HP:0001272	Cerebellar atrophy
OMIM:616494	POLR3B	55703	HP:0000545	Myopia
OMIM:616494	POLR3B	55703	HP:0001249	Intellectual disability
OMIM:616494	POLR3A	11128	HP:0002415	Leukodystrophy
OMIM:616494	POLR3A	11128	HP:0001263	Global developmental delay
OMIM:616494	POLR3A	11128	HP:0000164	Abnormality of the teeth
OMIM:616494	POLR3A	11128	HP:0001337	Tremor
OMIM:616494	POLR3A	11128	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616494	POLR3A	11128	HP:0001257	Spasticity
OMIM:616494	POLR3A	11128	HP:0001251	Ataxia
OMIM:616494	POLR3A	11128	HP:0001272	Cerebellar atrophy
OMIM:616494	POLR3A	11128	HP:0000545	Myopia
OMIM:616494	POLR3A	11128	HP:0001249	Intellectual disability
OMIM:616494	POLR1C	9533	HP:0002415	Leukodystrophy
OMIM:616494	POLR1C	9533	HP:0001263	Global developmental delay
OMIM:616494	POLR1C	9533	HP:0000164	Abnormality of the teeth
OMIM:616494	POLR1C	9533	HP:0001337	Tremor
OMIM:616494	POLR1C	9533	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616494	POLR1C	9533	HP:0001257	Spasticity
OMIM:616494	POLR1C	9533	HP:0001251	Ataxia
OMIM:616494	POLR1C	9533	HP:0001272	Cerebellar atrophy
OMIM:616494	POLR1C	9533	HP:0000545	Myopia
OMIM:616494	POLR1C	9533	HP:0001249	Intellectual disability
OMIM:615658	TFG	10342	HP:0001347	Hyperreflexia
OMIM:615658	TFG	10342	HP:0001258	Spastic paraplegia
OMIM:615658	TFG	10342	HP:0000572	Visual loss
OMIM:615658	TFG	10342	HP:0000648	Optic atrophy
OMIM:615658	TFG	10342	HP:0000007	Autosomal recessive inheritance
OMIM:615658	TFG	10342	HP:0003487	Babinski sign
OMIM:308300	IKBKG	8517	HP:0002558	Supernumerary nipple
OMIM:308300	IKBKG	8517	HP:0100533	Inflammatory abnormality of the eye
OMIM:308300	IKBKG	8517	HP:0008070	Sparse hair
OMIM:308300	IKBKG	8517	HP:0001053	Hypopigmented skin patches
OMIM:308300	IKBKG	8517	HP:0000592	Blue sclerae
OMIM:308300	IKBKG	8517	HP:0002937	Hemivertebrae
OMIM:308300	IKBKG	8517	HP:0002637	Cerebral ischemia
OMIM:308300	IKBKG	8517	HP:0002751	Kyphoscoliosis
OMIM:308300	IKBKG	8517	HP:0001249	Intellectual disability
OMIM:308300	IKBKG	8517	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:308300	IKBKG	8517	HP:0002164	Nail dysplasia
OMIM:308300	IKBKG	8517	HP:0000202	Oral cleft
OMIM:308300	IKBKG	8517	HP:0000668	Hypodontia
OMIM:308300	IKBKG	8517	HP:0004097	Deviation of finger
OMIM:308300	IKBKG	8517	HP:0002213	Fine hair
OMIM:308300	IKBKG	8517	HP:0002650	Scoliosis
OMIM:308300	IKBKG	8517	HP:0000505	Visual impairment
OMIM:308300	IKBKG	8517	HP:0000491	Keratitis
OMIM:308300	IKBKG	8517	HP:0200042	Skin ulcer
OMIM:308300	IKBKG	8517	HP:0000648	Optic atrophy
OMIM:308300	IKBKG	8517	HP:0001000	Abnormality of skin pigmentation
OMIM:308300	IKBKG	8517	HP:0100543	Cognitive impairment
OMIM:308300	IKBKG	8517	HP:0001231	Abnormality of the fingernails
OMIM:308300	IKBKG	8517	HP:0000682	Abnormality of dental enamel
OMIM:308300	IKBKG	8517	HP:0000541	Retinal detachment
OMIM:308300	IKBKG	8517	HP:0002557	Hypoplastic nipples
OMIM:308300	IKBKG	8517	HP:0001250	Seizures
OMIM:308300	IKBKG	8517	HP:0003298	Spina bifida occulta
OMIM:308300	IKBKG	8517	HP:0000988	Skin rash
OMIM:308300	IKBKG	8517	HP:0001276	Hypertonia
OMIM:308300	IKBKG	8517	HP:0008388	Abnormality of the toenails
OMIM:308300	IKBKG	8517	HP:0100699	Scarring
OMIM:308300	IKBKG	8517	HP:0002208	Coarse hair
OMIM:308300	IKBKG	8517	HP:0000518	Cataract
OMIM:308300	IKBKG	8517	HP:0200043	Verrucae
OMIM:308300	IKBKG	8517	HP:0000684	Delayed eruption of teeth
OMIM:308300	IKBKG	8517	HP:0009804	Reduced number of teeth
OMIM:308300	IKBKG	8517	HP:0000486	Strabismus
OMIM:308300	IKBKG	8517	HP:0004322	Short stature
OMIM:308300	IKBKG	8517	HP:0001635	Congestive heart failure
OMIM:308300	IKBKG	8517	HP:0007759	Opacification of the corneal stroma
OMIM:308300	IKBKG	8517	HP:0000772	Abnormality of the ribs
OMIM:308300	IKBKG	8517	HP:0001257	Spasticity
OMIM:308300	IKBKG	8517	HP:0000962	Hyperkeratosis
OMIM:308300	IKBKG	8517	HP:0002797	Osteolysis
OMIM:308300	IKBKG	8517	HP:0001423	X-linked dominant inheritance
OMIM:308300	IKBKG	8517	HP:0000252	Microcephaly
OMIM:308300	IKBKG	8517	HP:0000364	Hearing abnormality
OMIM:308300	IKBKG	8517	HP:0007400	Irregular hyperpigmentation
OMIM:308300	IKBKG	8517	HP:0001288	Gait disturbance
OMIM:308300	IKBKG	8517	HP:0001880	Eosinophilia
OMIM:308300	IKBKG	8517	HP:0008404	Nail dystrophy
OMIM:308300	IKBKG	8517	HP:0006482	Abnormality of dental morphology
OMIM:308300	IKBKG	8517	HP:0100490	Camptodactyly of finger
OMIM:308300	IKBKG	8517	HP:0000532	Chorioretinal abnormality
OMIM:308300	IKBKG	8517	HP:0002383	Encephalitis
OMIM:308300	IKBKG	8517	HP:0000975	Hyperhidrosis
OMIM:308300	IKBKG	8517	HP:0001252	Muscular hypotonia
OMIM:308300	IKBKG	8517	HP:0006101	Finger syndactyly
OMIM:308300	IKBKG	8517	HP:0001596	Alopecia
OMIM:308300	IKBKG	8517	HP:0000568	Microphthalmia
OMIM:308300	IKBKG	8517	HP:0007018	Attention deficit hyperactivity disorder
OMIM:308300	IKBKG	8517	HP:0004374	Hemiplegia/hemiparesis
OMIM:308300	IKBKG	8517	HP:0008046	Abnormality of the retinal vasculature
OMIM:308300	IKBKG	8517	HP:0100585	Telangiectasia of the skin
OMIM:308300	IKBKG	8517	HP:0100555	Asymmetric growth
OMIM:308300	IKBKG	8517	HP:0001537	Umbilical hernia
OMIM:308300	IKBKG	8517	HP:0002120	Cerebral cortical atrophy
OMIM:308300	IKBKG	8517	HP:0001798	Anonychia
OMIM:609638	JUP	3728	HP:0001596	Alopecia
OMIM:609638	JUP	3728	HP:0001798	Anonychia
OMIM:609638	JUP	3728	HP:0009884	Tapered distal phalanges of finger
OMIM:609638	JUP	3728	HP:0001852	Sandal gap
OMIM:609638	JUP	3728	HP:0200042	Skin ulcer
OMIM:609638	JUP	3728	HP:0000007	Autosomal recessive inheritance
OMIM:609638	JUP	3728	HP:0001639	Hypertrophic cardiomyopathy
OMIM:609638	JUP	3728	HP:0004295	Abnormality of the gastric mucosa
OMIM:609638	JUP	3728	HP:0006288	Advanced eruption of teeth
OMIM:609638	JUP	3728	HP:0000695	Natal tooth
OMIM:609638	JUP	3728	HP:0001741	Phimosis
OMIM:609638	DSP	1832	HP:0001596	Alopecia
OMIM:609638	DSP	1832	HP:0001798	Anonychia
OMIM:609638	DSP	1832	HP:0009884	Tapered distal phalanges of finger
OMIM:609638	DSP	1832	HP:0001852	Sandal gap
OMIM:609638	DSP	1832	HP:0200042	Skin ulcer
OMIM:609638	DSP	1832	HP:0000007	Autosomal recessive inheritance
OMIM:609638	DSP	1832	HP:0001639	Hypertrophic cardiomyopathy
OMIM:609638	DSP	1832	HP:0004295	Abnormality of the gastric mucosa
OMIM:609638	DSP	1832	HP:0006288	Advanced eruption of teeth
OMIM:609638	DSP	1832	HP:0000695	Natal tooth
OMIM:609638	DSP	1832	HP:0001741	Phimosis
OMIM:613092	REN	5972	HP:0002149	Hyperuricemia
OMIM:613092	REN	5972	HP:0012622	Chronic kidney disease
OMIM:613092	REN	5972	HP:0000097	Focal segmental glomerulosclerosis
OMIM:613092	REN	5972	HP:0000006	Autosomal dominant inheritance
OMIM:613092	REN	5972	HP:0000089	Renal hypoplasia
OMIM:613092	REN	5972	HP:0004719	Hyperechogenic kidneys
OMIM:613092	REN	5972	HP:0001903	Anemia
OMIM:200610	COL2A1	1280	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:200610	COL2A1	1280	HP:0003521	Disproportionate short-trunk short stature
OMIM:200610	COL2A1	1280	HP:0001561	Polyhydramnios
OMIM:200610	COL2A1	1280	HP:0004322	Short stature
OMIM:200610	COL2A1	1280	HP:0001789	Hydrops fetalis
OMIM:200610	COL2A1	1280	HP:0003026	Short long bone
OMIM:200610	COL2A1	1280	HP:0004348	Abnormality of bone mineral density
OMIM:200610	COL2A1	1280	HP:0008873	Disproportionate short-limb short stature
OMIM:200610	COL2A1	1280	HP:0000347	Micrognathia
OMIM:200610	COL2A1	1280	HP:0003196	Short nose
OMIM:200610	COL2A1	1280	HP:0001537	Umbilical hernia
OMIM:200610	COL2A1	1280	HP:0000474	Thickened nuchal skin fold
OMIM:200610	COL2A1	1280	HP:0000476	Cystic hygroma
OMIM:200610	COL2A1	1280	HP:0000774	Narrow chest
OMIM:200610	COL2A1	1280	HP:0005622	Broad long bones
OMIM:200610	COL2A1	1280	HP:0000463	Anteverted nares
OMIM:200610	COL2A1	1280	HP:0001162	Postaxial hand polydactyly
OMIM:200610	COL2A1	1280	HP:0002007	Frontal bossing
OMIM:200610	COL2A1	1280	HP:0001760	Abnormality of the foot
OMIM:200610	COL2A1	1280	HP:0003270	Abdominal distention
OMIM:200610	COL2A1	1280	HP:0000175	Cleft palate
OMIM:200610	COL2A1	1280	HP:0010306	Short thorax
OMIM:200610	COL2A1	1280	HP:0000256	Macrocephaly
OMIM:200610	COL2A1	1280	HP:0000773	Short ribs
OMIM:200610	COL2A1	1280	HP:0001552	Barrel-shaped chest
OMIM:200610	COL2A1	1280	HP:0002652	Skeletal dysplasia
OMIM:200610	COL2A1	1280	HP:0000470	Short neck
OMIM:200610	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:200610	COL2A1	1280	HP:0002983	Micromelia
OMIM:200610	COL2A1	1280	HP:0000272	Malar flattening
OMIM:200610	COL2A1	1280	HP:0000343	Long philtrum
OMIM:200610	COL2A1	1280	HP:0000969	Edema
OMIM:200610	COL2A1	1280	HP:0003826	Stillbirth
OMIM:609508	COL2A1	1280	HP:0004327	Abnormality of the vitreous humor
OMIM:609508	COL2A1	1280	HP:0000545	Myopia
OMIM:609508	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:616154	FAR1	84188	HP:0000280	Coarse facial features
OMIM:616154	FAR1	84188	HP:0000518	Cataract
OMIM:616154	FAR1	84188	HP:0000400	Macrotia
OMIM:616154	FAR1	84188	HP:0001263	Global developmental delay
OMIM:616154	FAR1	84188	HP:0001249	Intellectual disability
OMIM:616154	FAR1	84188	HP:0001257	Spasticity
OMIM:616154	FAR1	84188	HP:0001272	Cerebellar atrophy
OMIM:616154	FAR1	84188	HP:0001510	Growth delay
OMIM:616154	FAR1	84188	HP:0000343	Long philtrum
OMIM:616154	FAR1	84188	HP:0001252	Muscular hypotonia
OMIM:616154	FAR1	84188	HP:0000252	Microcephaly
OMIM:616154	FAR1	84188	HP:0000219	Thin upper lip vermilion
OMIM:616154	FAR1	84188	HP:0001250	Seizures
OMIM:616154	FAR1	84188	HP:0002553	Highly arched eyebrow
OMIM:610475	PRKAR1A	5573	HP:0001065	Striae distensae
OMIM:610475	PRKAR1A	5573	HP:0001268	Mental deterioration
OMIM:610475	PRKAR1A	5573	HP:0000978	Bruising susceptibility
OMIM:610475	PRKAR1A	5573	HP:0000739	Anxiety
OMIM:610475	PRKAR1A	5573	HP:0000822	Hypertension
OMIM:610475	PRKAR1A	5573	HP:0002808	Kyphosis
OMIM:610475	PRKAR1A	5573	HP:0003674	Onset
OMIM:610475	PRKAR1A	5573	HP:0000963	Thin skin
OMIM:610475	PRKAR1A	5573	HP:0000939	Osteoporosis
OMIM:610475	PRKAR1A	5573	HP:0000709	Psychosis
OMIM:610475	PRKAR1A	5573	HP:0000713	Agitation
OMIM:610475	PRKAR1A	5573	HP:0002920	Decreased circulating ACTH level
OMIM:610475	PRKAR1A	5573	HP:0000311	Round face
OMIM:610475	PRKAR1A	5573	HP:0000006	Autosomal dominant inheritance
OMIM:610475	PRKAR1A	5573	HP:0001956	Truncal obesity
OMIM:610475	PRKAR1A	5573	HP:0000938	Osteopenia
OMIM:610475	PRKAR1A	5573	HP:0001575	Mood changes
OMIM:610475	PRKAR1A	5573	HP:0001579	Primary hypercorticolism
OMIM:610475	PRKAR1A	5573	HP:0003118	Increased circulating cortisol level
OMIM:610475	PRKAR1A	5573	HP:0000716	Depression
OMIM:610475	PDE11A	50940	HP:0001065	Striae distensae
OMIM:610475	PDE11A	50940	HP:0001268	Mental deterioration
OMIM:610475	PDE11A	50940	HP:0000978	Bruising susceptibility
OMIM:610475	PDE11A	50940	HP:0000739	Anxiety
OMIM:610475	PDE11A	50940	HP:0000822	Hypertension
OMIM:610475	PDE11A	50940	HP:0002808	Kyphosis
OMIM:610475	PDE11A	50940	HP:0003674	Onset
OMIM:610475	PDE11A	50940	HP:0000963	Thin skin
OMIM:610475	PDE11A	50940	HP:0000939	Osteoporosis
OMIM:610475	PDE11A	50940	HP:0000709	Psychosis
OMIM:610475	PDE11A	50940	HP:0000713	Agitation
OMIM:610475	PDE11A	50940	HP:0002920	Decreased circulating ACTH level
OMIM:610475	PDE11A	50940	HP:0000311	Round face
OMIM:610475	PDE11A	50940	HP:0000006	Autosomal dominant inheritance
OMIM:610475	PDE11A	50940	HP:0001956	Truncal obesity
OMIM:610475	PDE11A	50940	HP:0000938	Osteopenia
OMIM:610475	PDE11A	50940	HP:0001575	Mood changes
OMIM:610475	PDE11A	50940	HP:0001579	Primary hypercorticolism
OMIM:610475	PDE11A	50940	HP:0003118	Increased circulating cortisol level
OMIM:610475	PDE11A	50940	HP:0000716	Depression
OMIM:610475	PDE8B	8622	HP:0001065	Striae distensae
OMIM:610475	PDE8B	8622	HP:0001268	Mental deterioration
OMIM:610475	PDE8B	8622	HP:0000978	Bruising susceptibility
OMIM:610475	PDE8B	8622	HP:0000739	Anxiety
OMIM:610475	PDE8B	8622	HP:0000822	Hypertension
OMIM:610475	PDE8B	8622	HP:0002808	Kyphosis
OMIM:610475	PDE8B	8622	HP:0003674	Onset
OMIM:610475	PDE8B	8622	HP:0000963	Thin skin
OMIM:610475	PDE8B	8622	HP:0000939	Osteoporosis
OMIM:610475	PDE8B	8622	HP:0000709	Psychosis
OMIM:610475	PDE8B	8622	HP:0000713	Agitation
OMIM:610475	PDE8B	8622	HP:0002920	Decreased circulating ACTH level
OMIM:610475	PDE8B	8622	HP:0000311	Round face
OMIM:610475	PDE8B	8622	HP:0000006	Autosomal dominant inheritance
OMIM:610475	PDE8B	8622	HP:0001956	Truncal obesity
OMIM:610475	PDE8B	8622	HP:0000938	Osteopenia
OMIM:610475	PDE8B	8622	HP:0001575	Mood changes
OMIM:610475	PDE8B	8622	HP:0001579	Primary hypercorticolism
OMIM:610475	PDE8B	8622	HP:0003118	Increased circulating cortisol level
OMIM:610475	PDE8B	8622	HP:0000716	Depression
OMIM:610475	PRKACA	5566	HP:0001065	Striae distensae
OMIM:610475	PRKACA	5566	HP:0001268	Mental deterioration
OMIM:610475	PRKACA	5566	HP:0000978	Bruising susceptibility
OMIM:610475	PRKACA	5566	HP:0000739	Anxiety
OMIM:610475	PRKACA	5566	HP:0000822	Hypertension
OMIM:610475	PRKACA	5566	HP:0002808	Kyphosis
OMIM:610475	PRKACA	5566	HP:0003674	Onset
OMIM:610475	PRKACA	5566	HP:0000963	Thin skin
OMIM:610475	PRKACA	5566	HP:0000939	Osteoporosis
OMIM:610475	PRKACA	5566	HP:0000709	Psychosis
OMIM:610475	PRKACA	5566	HP:0000713	Agitation
OMIM:610475	PRKACA	5566	HP:0002920	Decreased circulating ACTH level
OMIM:610475	PRKACA	5566	HP:0000311	Round face
OMIM:610475	PRKACA	5566	HP:0000006	Autosomal dominant inheritance
OMIM:610475	PRKACA	5566	HP:0001956	Truncal obesity
OMIM:610475	PRKACA	5566	HP:0000938	Osteopenia
OMIM:610475	PRKACA	5566	HP:0001575	Mood changes
OMIM:610475	PRKACA	5566	HP:0001579	Primary hypercorticolism
OMIM:610475	PRKACA	5566	HP:0003118	Increased circulating cortisol level
OMIM:610475	PRKACA	5566	HP:0000716	Depression
OMIM:211170	SH3PXD2B	285590	HP:0002808	Kyphosis
OMIM:211170	SH3PXD2B	285590	HP:0000316	Hypertelorism
OMIM:211170	SH3PXD2B	285590	HP:0000212	Gingival overgrowth
OMIM:211170	SH3PXD2B	285590	HP:0001061	Acne
OMIM:211170	SH3PXD2B	285590	HP:0100490	Camptodactyly of finger
OMIM:211170	SH3PXD2B	285590	HP:0000494	Downslanted palpebral fissures
OMIM:211170	SH3PXD2B	285590	HP:0001156	Brachydactyly syndrome
OMIM:211170	SH3PXD2B	285590	HP:0001633	Abnormality of the mitral valve
OMIM:211170	SH3PXD2B	285590	HP:0001537	Umbilical hernia
OMIM:211170	SH3PXD2B	285590	HP:0002816	Genu recurvatum
OMIM:211170	SH3PXD2B	285590	HP:0002650	Scoliosis
OMIM:211170	SH3PXD2B	285590	HP:0000490	Deeply set eye
OMIM:211170	SH3PXD2B	285590	HP:0002751	Kyphoscoliosis
OMIM:211170	SH3PXD2B	285590	HP:0001634	Mitral valve prolapse
OMIM:211170	SH3PXD2B	285590	HP:0000684	Delayed eruption of teeth
OMIM:211170	SH3PXD2B	285590	HP:0001376	Limitation of joint mobility
OMIM:211170	SH3PXD2B	285590	HP:0000023	Inguinal hernia
OMIM:211170	SH3PXD2B	285590	HP:0005280	Depressed nasal bridge
OMIM:211170	SH3PXD2B	285590	HP:0012385	Camptodactyly
OMIM:211170	SH3PXD2B	285590	HP:0001072	Thickened skin
OMIM:211170	SH3PXD2B	285590	HP:0000179	Thick lower lip vermilion
OMIM:211170	SH3PXD2B	285590	HP:0001163	Abnormality of the metacarpal bones
OMIM:211170	SH3PXD2B	285590	HP:0004209	Clinodactyly of the 5th finger
OMIM:211170	SH3PXD2B	285590	HP:0000348	High forehead
OMIM:211170	SH3PXD2B	285590	HP:0002797	Osteolysis
OMIM:211170	SH3PXD2B	285590	HP:0000280	Coarse facial features
OMIM:211170	SH3PXD2B	285590	HP:0009473	Joint contracture of the hand
OMIM:211170	SH3PXD2B	285590	HP:0000337	Broad forehead
OMIM:211170	SH3PXD2B	285590	HP:0000154	Wide mouth
OMIM:211170	SH3PXD2B	285590	HP:0000303	Mandibular prognathia
OMIM:211170	SH3PXD2B	285590	HP:0000322	Short philtrum
OMIM:211170	SH3PXD2B	285590	HP:0000377	Abnormality of the pinna
OMIM:211170	SH3PXD2B	285590	HP:0001635	Congestive heart failure
OMIM:211170	SH3PXD2B	285590	HP:0004322	Short stature
OMIM:302950	ARSE	415	HP:0000458	Anosmia
OMIM:302950	ARSE	415	HP:0000135	Hypogonadism
OMIM:302950	ARSE	415	HP:0000925	Abnormality of the vertebral column
OMIM:302950	ARSE	415	HP:0000365	Hearing impairment
OMIM:302950	ARSE	415	HP:0000518	Cataract
OMIM:302950	ARSE	415	HP:0010655	Epiphyseal stippling
OMIM:302950	ARSE	415	HP:0001263	Global developmental delay
OMIM:302950	ARSE	415	HP:0001419	X-linked recessive inheritance
OMIM:302950	ARSE	415	HP:0000252	Microcephaly
OMIM:302950	ARSE	415	HP:0008064	Ichthyosis
OMIM:302950	ARSE	415	HP:0009882	Short distal phalanx of finger
OMIM:302950	ARSE	415	HP:0005280	Depressed nasal bridge
OMIM:302950	ARSE	415	HP:0003196	Short nose
OMIM:302950	ARSE	415	HP:0004322	Short stature
OMIM:312870	GPC3	2719	HP:0002167	Neurological speech impairment
OMIM:312870	GPC3	2719	HP:0000098	Tall stature
OMIM:312870	GPC3	2719	HP:0001539	Omphalocele
OMIM:312870	GPC3	2719	HP:0001669	Transposition of the great arteries
OMIM:312870	GPC3	2719	HP:0000157	Abnormality of the tongue
OMIM:312870	GPC3	2719	HP:0001561	Polyhydramnios
OMIM:312870	GPC3	2719	HP:0001537	Umbilical hernia
OMIM:312870	GPC3	2719	HP:0000028	Cryptorchidism
OMIM:312870	GPC3	2719	HP:0001770	Toe syndactyly
OMIM:312870	GPC3	2719	HP:0000316	Hypertelorism
OMIM:312870	GPC3	2719	HP:0001162	Postaxial hand polydactyly
OMIM:312870	GPC3	2719	HP:0004279	Short palm
OMIM:312870	GPC3	2719	HP:0009882	Short distal phalanx of finger
OMIM:312870	GPC3	2719	HP:0004467	Preauricular pit
OMIM:312870	GPC3	2719	HP:0011675	Arrhythmia
OMIM:312870	GPC3	2719	HP:0000158	Macroglossia
OMIM:312870	GPC3	2719	HP:0000286	Epicanthus
OMIM:312870	GPC3	2719	HP:0001831	Short toe
OMIM:312870	GPC3	2719	HP:0001629	Ventricular septal defect
OMIM:312870	GPC3	2719	HP:0009602	Abnormality of thumb phalanx
OMIM:312870	GPC3	2719	HP:0006101	Finger syndactyly
OMIM:312870	GPC3	2719	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:312870	GPC3	2719	HP:0000256	Macrocephaly
OMIM:312870	GPC3	2719	HP:0000384	Preauricular skin tag
OMIM:312870	GPC3	2719	HP:0001748	Polysplenia
OMIM:312870	GPC3	2719	HP:0000776	Congenital diaphragmatic hernia
OMIM:312870	GPC3	2719	HP:0001252	Muscular hypotonia
OMIM:312870	GPC3	2719	HP:0000431	Wide nasal bridge
OMIM:312870	GPC3	2719	HP:0000175	Cleft palate
OMIM:312870	GPC3	2719	HP:0001608	Abnormality of the voice
OMIM:312870	GPC3	2719	HP:0001732	Abnormality of the pancreas
OMIM:312870	GPC3	2719	HP:0001943	Hypoglycemia
OMIM:312870	GPC3	2719	HP:0000303	Mandibular prognathia
OMIM:312870	GPC3	2719	HP:0003006	Neuroblastoma
OMIM:312870	GPC3	2719	HP:0001744	Splenomegaly
OMIM:312870	GPC3	2719	HP:0001643	Patent ductus arteriosus
OMIM:312870	GPC3	2719	HP:0006525	Lung segmentation defects
OMIM:312870	GPC3	2719	HP:0000204	Cleft upper lip
OMIM:312870	GPC3	2719	HP:0100543	Cognitive impairment
OMIM:312870	GPC3	2719	HP:0001642	Pulmonic stenosis
OMIM:312870	GPC3	2719	HP:0004209	Clinodactyly of the 5th finger
OMIM:312870	GPC3	2719	HP:0100490	Camptodactyly of finger
OMIM:312870	GPC3	2719	HP:0000463	Anteverted nares
OMIM:312870	GPC3	2719	HP:0000494	Downslanted palpebral fissures
OMIM:312870	GPC3	2719	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:312870	GPC3	2719	HP:0011304	Broad thumb
OMIM:312870	GPC3	2719	HP:0000154	Wide mouth
OMIM:312870	GPC3	2719	HP:0005280	Depressed nasal bridge
OMIM:312870	GPC3	2719	HP:0000047	Hypospadias
OMIM:312870	GPC3	2719	HP:0001231	Abnormality of the fingernails
OMIM:312870	GPC3	2719	HP:0000772	Abnormality of the ribs
OMIM:312870	GPC3	2719	HP:0001638	Cardiomyopathy
OMIM:312870	GPC3	2719	HP:0002650	Scoliosis
OMIM:312870	GPC3	2719	HP:0000767	Pectus excavatum
OMIM:312870	GPC3	2719	HP:0001320	Cerebellar vermis hypoplasia
OMIM:312870	GPC3	2719	HP:0002558	Supernumerary nipple
OMIM:312870	GPC3	2719	HP:0001274	Agenesis of corpus callosum
OMIM:312870	GPC3	2719	HP:0001762	Talipes equinovarus
OMIM:312870	GPC3	2719	HP:0003422	Vertebral segmentation defect
OMIM:312870	GPC3	2719	HP:0000365	Hearing impairment
OMIM:312870	GPC3	2719	HP:0002245	Meckel diverticulum
OMIM:312870	GPC3	2719	HP:0000465	Webbed neck
OMIM:312870	GPC3	2719	HP:0000470	Short neck
OMIM:312870	GPC3	2719	HP:0001837	Broad toe
OMIM:312870	GPC3	2719	HP:0001639	Hypertrophic cardiomyopathy
OMIM:312870	GPC3	2719	HP:0001773	Short foot
OMIM:312870	GPC3	2719	HP:0002566	Intestinal malrotation
OMIM:312870	GPC3	2719	HP:0002240	Hepatomegaly
OMIM:312870	GPC3	2719	HP:0001419	X-linked recessive inheritance
OMIM:312870	GPC3	2719	HP:0003196	Short nose
OMIM:312870	GPC3	2719	HP:0000238	Hydrocephalus
OMIM:312870	GPC3	2719	HP:0000689	Dental malocclusion
OMIM:312870	GPC3	2719	HP:0011039	Abnormality of the helix
OMIM:312870	GPC3	2719	HP:0000023	Inguinal hernia
OMIM:312870	GPC3	2719	HP:0008736	Hypoplasia of penis
OMIM:312870	GPC3	2719	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:312870	GPC3	2719	HP:0000107	Renal cyst
OMIM:312870	GPC3	2719	HP:0001305	Dandy-Walker malformation
OMIM:312870	GPC3	2719	HP:0000280	Coarse facial features
OMIM:312870	GPC3	2719	HP:0005616	Accelerated skeletal maturation
OMIM:312870	GPC3	2719	HP:0001631	Atria septal defect
OMIM:312870	GPC3	2719	HP:0002869	Flared iliac wings
OMIM:312870	GPC3	2719	HP:0001250	Seizures
OMIM:312870	GPC3	2719	HP:0100627	Displacement of the external urethral meatus
OMIM:312870	GPC3	2719	HP:0001883	Talipes
OMIM:312870	GPC3	2719	HP:0001792	Small nail
OMIM:312870	GPC3	2719	HP:0003312	Abnormal form of the vertebral bodies
OMIM:312870	GPC3	2719	HP:0000368	Low-set, posteriorly rotated ears
OMIM:312870	GPC3	2719	HP:0000069	Abnormality of the ureter
OMIM:312870	GPC3	2719	HP:0000003	Multicystic kidney dysplasia
OMIM:312870	GPC4	2239	HP:0002167	Neurological speech impairment
OMIM:312870	GPC4	2239	HP:0000098	Tall stature
OMIM:312870	GPC4	2239	HP:0001539	Omphalocele
OMIM:312870	GPC4	2239	HP:0001669	Transposition of the great arteries
OMIM:312870	GPC4	2239	HP:0000157	Abnormality of the tongue
OMIM:312870	GPC4	2239	HP:0001561	Polyhydramnios
OMIM:312870	GPC4	2239	HP:0001537	Umbilical hernia
OMIM:312870	GPC4	2239	HP:0000028	Cryptorchidism
OMIM:312870	GPC4	2239	HP:0001770	Toe syndactyly
OMIM:312870	GPC4	2239	HP:0000316	Hypertelorism
OMIM:312870	GPC4	2239	HP:0001162	Postaxial hand polydactyly
OMIM:312870	GPC4	2239	HP:0004279	Short palm
OMIM:312870	GPC4	2239	HP:0009882	Short distal phalanx of finger
OMIM:312870	GPC4	2239	HP:0004467	Preauricular pit
OMIM:312870	GPC4	2239	HP:0011675	Arrhythmia
OMIM:312870	GPC4	2239	HP:0000158	Macroglossia
OMIM:312870	GPC4	2239	HP:0000286	Epicanthus
OMIM:312870	GPC4	2239	HP:0001831	Short toe
OMIM:312870	GPC4	2239	HP:0001629	Ventricular septal defect
OMIM:312870	GPC4	2239	HP:0009602	Abnormality of thumb phalanx
OMIM:312870	GPC4	2239	HP:0006101	Finger syndactyly
OMIM:312870	GPC4	2239	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:312870	GPC4	2239	HP:0000256	Macrocephaly
OMIM:312870	GPC4	2239	HP:0000384	Preauricular skin tag
OMIM:312870	GPC4	2239	HP:0001748	Polysplenia
OMIM:312870	GPC4	2239	HP:0000776	Congenital diaphragmatic hernia
OMIM:312870	GPC4	2239	HP:0001252	Muscular hypotonia
OMIM:312870	GPC4	2239	HP:0000431	Wide nasal bridge
OMIM:312870	GPC4	2239	HP:0000175	Cleft palate
OMIM:312870	GPC4	2239	HP:0001608	Abnormality of the voice
OMIM:312870	GPC4	2239	HP:0001732	Abnormality of the pancreas
OMIM:312870	GPC4	2239	HP:0001943	Hypoglycemia
OMIM:312870	GPC4	2239	HP:0000303	Mandibular prognathia
OMIM:312870	GPC4	2239	HP:0003006	Neuroblastoma
OMIM:312870	GPC4	2239	HP:0001744	Splenomegaly
OMIM:312870	GPC4	2239	HP:0001643	Patent ductus arteriosus
OMIM:312870	GPC4	2239	HP:0006525	Lung segmentation defects
OMIM:312870	GPC4	2239	HP:0000204	Cleft upper lip
OMIM:312870	GPC4	2239	HP:0100543	Cognitive impairment
OMIM:312870	GPC4	2239	HP:0001642	Pulmonic stenosis
OMIM:312870	GPC4	2239	HP:0004209	Clinodactyly of the 5th finger
OMIM:312870	GPC4	2239	HP:0100490	Camptodactyly of finger
OMIM:312870	GPC4	2239	HP:0000463	Anteverted nares
OMIM:312870	GPC4	2239	HP:0000494	Downslanted palpebral fissures
OMIM:312870	GPC4	2239	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:312870	GPC4	2239	HP:0011304	Broad thumb
OMIM:312870	GPC4	2239	HP:0000154	Wide mouth
OMIM:312870	GPC4	2239	HP:0005280	Depressed nasal bridge
OMIM:312870	GPC4	2239	HP:0000047	Hypospadias
OMIM:312870	GPC4	2239	HP:0001231	Abnormality of the fingernails
OMIM:312870	GPC4	2239	HP:0000772	Abnormality of the ribs
OMIM:312870	GPC4	2239	HP:0001638	Cardiomyopathy
OMIM:312870	GPC4	2239	HP:0002650	Scoliosis
OMIM:312870	GPC4	2239	HP:0000767	Pectus excavatum
OMIM:312870	GPC4	2239	HP:0001320	Cerebellar vermis hypoplasia
OMIM:312870	GPC4	2239	HP:0002558	Supernumerary nipple
OMIM:312870	GPC4	2239	HP:0001274	Agenesis of corpus callosum
OMIM:312870	GPC4	2239	HP:0001762	Talipes equinovarus
OMIM:312870	GPC4	2239	HP:0003422	Vertebral segmentation defect
OMIM:312870	GPC4	2239	HP:0000365	Hearing impairment
OMIM:312870	GPC4	2239	HP:0002245	Meckel diverticulum
OMIM:312870	GPC4	2239	HP:0000465	Webbed neck
OMIM:312870	GPC4	2239	HP:0000470	Short neck
OMIM:312870	GPC4	2239	HP:0001837	Broad toe
OMIM:312870	GPC4	2239	HP:0001639	Hypertrophic cardiomyopathy
OMIM:312870	GPC4	2239	HP:0001773	Short foot
OMIM:312870	GPC4	2239	HP:0002566	Intestinal malrotation
OMIM:312870	GPC4	2239	HP:0002240	Hepatomegaly
OMIM:312870	GPC4	2239	HP:0001419	X-linked recessive inheritance
OMIM:312870	GPC4	2239	HP:0003196	Short nose
OMIM:312870	GPC4	2239	HP:0000238	Hydrocephalus
OMIM:312870	GPC4	2239	HP:0000689	Dental malocclusion
OMIM:312870	GPC4	2239	HP:0011039	Abnormality of the helix
OMIM:312870	GPC4	2239	HP:0000023	Inguinal hernia
OMIM:312870	GPC4	2239	HP:0008736	Hypoplasia of penis
OMIM:312870	GPC4	2239	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:312870	GPC4	2239	HP:0000107	Renal cyst
OMIM:312870	GPC4	2239	HP:0001305	Dandy-Walker malformation
OMIM:312870	GPC4	2239	HP:0000280	Coarse facial features
OMIM:312870	GPC4	2239	HP:0005616	Accelerated skeletal maturation
OMIM:312870	GPC4	2239	HP:0001631	Atria septal defect
OMIM:312870	GPC4	2239	HP:0002869	Flared iliac wings
OMIM:312870	GPC4	2239	HP:0001250	Seizures
OMIM:312870	GPC4	2239	HP:0100627	Displacement of the external urethral meatus
OMIM:312870	GPC4	2239	HP:0001883	Talipes
OMIM:312870	GPC4	2239	HP:0001792	Small nail
OMIM:312870	GPC4	2239	HP:0003312	Abnormal form of the vertebral bodies
OMIM:312870	GPC4	2239	HP:0000368	Low-set, posteriorly rotated ears
OMIM:312870	GPC4	2239	HP:0000069	Abnormality of the ureter
OMIM:312870	GPC4	2239	HP:0000003	Multicystic kidney dysplasia
OMIM:182290	RAI1	10743	HP:0000316	Hypertelorism
OMIM:182290	RAI1	10743	HP:0004322	Short stature
OMIM:182290	RAI1	10743	HP:0001156	Brachydactyly syndrome
OMIM:182290	RAI1	10743	HP:0002360	Sleep disturbance
OMIM:182290	RAI1	10743	HP:0010804	Tented upper lip vermilion
OMIM:182290	RAI1	10743	HP:0000347	Micrognathia
OMIM:182290	RAI1	10743	HP:0001763	Pes planus
OMIM:182290	RAI1	10743	HP:0005607	Abnormality of the tracheobronchial system
OMIM:182290	RAI1	10743	HP:0000463	Anteverted nares
OMIM:182290	RAI1	10743	HP:0000405	Conductive hearing impairment
OMIM:182290	RAI1	10743	HP:0003124	Hypercholesterolemia
OMIM:182290	RAI1	10743	HP:0005280	Depressed nasal bridge
OMIM:182290	RAI1	10743	HP:0001376	Limitation of joint mobility
OMIM:182290	RAI1	10743	HP:0000826	Precocious puberty
OMIM:182290	RAI1	10743	HP:0100543	Cognitive impairment
OMIM:182290	RAI1	10743	HP:0001513	Obesity
OMIM:182290	RAI1	10743	HP:0000582	Upslanted palpebral fissure
OMIM:182290	RAI1	10743	HP:0000078	Abnormality of the genital system
OMIM:182290	RAI1	10743	HP:0000545	Myopia
OMIM:182290	RAI1	10743	HP:0009804	Reduced number of teeth
OMIM:182290	RAI1	10743	HP:0001288	Gait disturbance
OMIM:182290	RAI1	10743	HP:0000157	Abnormality of the tongue
OMIM:182290	RAI1	10743	HP:0002973	Abnormality of the forearm
OMIM:182290	RAI1	10743	HP:0008609	Morphological abnormality of the middle ear
OMIM:182290	RAI1	10743	HP:0000248	Brachycephaly
OMIM:182290	RAI1	10743	HP:0000664	Synophrys
OMIM:182290	RAI1	10743	HP:0000679	Taurodontia
OMIM:182290	RAI1	10743	HP:0000337	Broad forehead
OMIM:182290	RAI1	10743	HP:0001249	Intellectual disability
OMIM:182290	RAI1	10743	HP:0002007	Frontal bossing
OMIM:182290	RAI1	10743	HP:0000006	Autosomal dominant inheritance
OMIM:182290	RAI1	10743	HP:0004279	Short palm
OMIM:182290	RAI1	10743	HP:0000490	Deeply set eye
OMIM:182290	RAI1	10743	HP:0001161	Hand polydactyly
OMIM:182290	RAI1	10743	HP:0000750	Delayed speech and language development
OMIM:182290	RAI1	10743	HP:0001290	Generalized hypotonia
OMIM:182290	RAI1	10743	HP:0000486	Strabismus
OMIM:182290	RAI1	10743	HP:0000742	Self-mutilation
OMIM:182290	RAI1	10743	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182290	RAI1	10743	HP:0000303	Mandibular prognathia
OMIM:182290	RAI1	10743	HP:0000821	Hypothyroidism
OMIM:182290	RAI1	10743	HP:0001250	Seizures
OMIM:182290	RAI1	10743	HP:0002119	Ventriculomegaly
OMIM:182290	RAI1	10743	HP:0000220	Velopharyngeal insufficiency
OMIM:182290	RAI1	10743	HP:0000069	Abnormality of the ureter
OMIM:182290	RAI1	10743	HP:0000175	Cleft palate
OMIM:182290	RAI1	10743	HP:0007328	Impaired pain sensation
OMIM:182290	RAI1	10743	HP:0001770	Toe syndactyly
OMIM:182290	RAI1	10743	HP:0003312	Abnormal form of the vertebral bodies
OMIM:182290	RAI1	10743	HP:0004209	Clinodactyly of the 5th finger
OMIM:182290	RAI1	10743	HP:0002650	Scoliosis
OMIM:182290	RAI1	10743	HP:0003745	Sporadic
OMIM:182290	RAI1	10743	HP:0000388	Otitis media
OMIM:182290	RAI1	10743	HP:0000204	Cleft upper lip
OMIM:182290	RAI1	10743	HP:0000482	Microcornea
OMIM:182290	RAI1	10743	HP:0001263	Global developmental delay
OMIM:182290	RAI1	10743	HP:0002353	EEG abnormality
OMIM:182290	RAI1	10743	HP:0000322	Short philtrum
OMIM:182290	RAI1	10743	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:182290	RAI1	10743	HP:0000356	Abnormality of the outer ear
OMIM:182290	RAI1	10743	HP:0000194	Open mouth
OMIM:182290	RAI1	10743	HP:0002155	Hypertriglyceridemia
OMIM:182290	RAI1	10743	HP:0002167	Neurological speech impairment
OMIM:182290	RAI1	10743	HP:0010780	Hyperacusis
OMIM:182290	RAI1	10743	HP:0011800	Hypoplasia of midface
OMIM:182290	RAI1	10743	HP:0003196	Short nose
OMIM:182290	RAI1	10743	HP:0100542	Abnormal localization of kidney
OMIM:182290	RAI1	10743	HP:0000431	Wide nasal bridge
OMIM:182290	RAI1	10743	HP:0001284	Areflexia
OMIM:182290	RAI1	10743	HP:0000252	Microcephaly
OMIM:182290	RAI1	10743	HP:0007018	Attention deficit hyperactivity disorder
OMIM:182290	RAI1	10743	HP:0000272	Malar flattening
OMIM:182290	RAI1	10743	HP:0000541	Retinal detachment
OMIM:182290	RAI1	10743	HP:0000733	Stereotypic behavior
OMIM:182290	RAI1	10743	HP:0001557	Prenatal movement abnormality
OMIM:182290	RAI1	10743	HP:0001265	Hyporeflexia
OMIM:182290	RAI1	10743	HP:0008678	Renal hypoplasia/aplasia
OMIM:182290	RAI1	10743	HP:0001609	Hoarse voice
OMIM:182290	RAI1	10743	HP:0012210	Abnormal renal morphology
OMIM:182290	RAI1	10743	HP:0001600	Abnormality of the larynx
OMIM:182290	RAI1	10743	HP:0002019	Constipation
OMIM:182290	FLII	2314	HP:0000316	Hypertelorism
OMIM:182290	FLII	2314	HP:0004322	Short stature
OMIM:182290	FLII	2314	HP:0001156	Brachydactyly syndrome
OMIM:182290	FLII	2314	HP:0002360	Sleep disturbance
OMIM:182290	FLII	2314	HP:0010804	Tented upper lip vermilion
OMIM:182290	FLII	2314	HP:0000347	Micrognathia
OMIM:182290	FLII	2314	HP:0001763	Pes planus
OMIM:182290	FLII	2314	HP:0005607	Abnormality of the tracheobronchial system
OMIM:182290	FLII	2314	HP:0000463	Anteverted nares
OMIM:182290	FLII	2314	HP:0000405	Conductive hearing impairment
OMIM:182290	FLII	2314	HP:0003124	Hypercholesterolemia
OMIM:182290	FLII	2314	HP:0005280	Depressed nasal bridge
OMIM:182290	FLII	2314	HP:0001376	Limitation of joint mobility
OMIM:182290	FLII	2314	HP:0000826	Precocious puberty
OMIM:182290	FLII	2314	HP:0100543	Cognitive impairment
OMIM:182290	FLII	2314	HP:0001513	Obesity
OMIM:182290	FLII	2314	HP:0000582	Upslanted palpebral fissure
OMIM:182290	FLII	2314	HP:0000078	Abnormality of the genital system
OMIM:182290	FLII	2314	HP:0000545	Myopia
OMIM:182290	FLII	2314	HP:0009804	Reduced number of teeth
OMIM:182290	FLII	2314	HP:0001288	Gait disturbance
OMIM:182290	FLII	2314	HP:0000157	Abnormality of the tongue
OMIM:182290	FLII	2314	HP:0002973	Abnormality of the forearm
OMIM:182290	FLII	2314	HP:0008609	Morphological abnormality of the middle ear
OMIM:182290	FLII	2314	HP:0000248	Brachycephaly
OMIM:182290	FLII	2314	HP:0000664	Synophrys
OMIM:182290	FLII	2314	HP:0000679	Taurodontia
OMIM:182290	FLII	2314	HP:0000337	Broad forehead
OMIM:182290	FLII	2314	HP:0001249	Intellectual disability
OMIM:182290	FLII	2314	HP:0002007	Frontal bossing
OMIM:182290	FLII	2314	HP:0000006	Autosomal dominant inheritance
OMIM:182290	FLII	2314	HP:0004279	Short palm
OMIM:182290	FLII	2314	HP:0000490	Deeply set eye
OMIM:182290	FLII	2314	HP:0001161	Hand polydactyly
OMIM:182290	FLII	2314	HP:0000750	Delayed speech and language development
OMIM:182290	FLII	2314	HP:0001290	Generalized hypotonia
OMIM:182290	FLII	2314	HP:0000486	Strabismus
OMIM:182290	FLII	2314	HP:0000742	Self-mutilation
OMIM:182290	FLII	2314	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:182290	FLII	2314	HP:0000303	Mandibular prognathia
OMIM:182290	FLII	2314	HP:0000821	Hypothyroidism
OMIM:182290	FLII	2314	HP:0001250	Seizures
OMIM:182290	FLII	2314	HP:0002119	Ventriculomegaly
OMIM:182290	FLII	2314	HP:0000220	Velopharyngeal insufficiency
OMIM:182290	FLII	2314	HP:0000069	Abnormality of the ureter
OMIM:182290	FLII	2314	HP:0000175	Cleft palate
OMIM:182290	FLII	2314	HP:0007328	Impaired pain sensation
OMIM:182290	FLII	2314	HP:0001770	Toe syndactyly
OMIM:182290	FLII	2314	HP:0003312	Abnormal form of the vertebral bodies
OMIM:182290	FLII	2314	HP:0004209	Clinodactyly of the 5th finger
OMIM:182290	FLII	2314	HP:0002650	Scoliosis
OMIM:182290	FLII	2314	HP:0003745	Sporadic
OMIM:182290	FLII	2314	HP:0000388	Otitis media
OMIM:182290	FLII	2314	HP:0000204	Cleft upper lip
OMIM:182290	FLII	2314	HP:0000482	Microcornea
OMIM:182290	FLII	2314	HP:0001263	Global developmental delay
OMIM:182290	FLII	2314	HP:0002353	EEG abnormality
OMIM:182290	FLII	2314	HP:0000322	Short philtrum
OMIM:182290	FLII	2314	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:182290	FLII	2314	HP:0000356	Abnormality of the outer ear
OMIM:182290	FLII	2314	HP:0000194	Open mouth
OMIM:182290	FLII	2314	HP:0002155	Hypertriglyceridemia
OMIM:182290	FLII	2314	HP:0002167	Neurological speech impairment
OMIM:182290	FLII	2314	HP:0010780	Hyperacusis
OMIM:182290	FLII	2314	HP:0011800	Hypoplasia of midface
OMIM:182290	FLII	2314	HP:0003196	Short nose
OMIM:182290	FLII	2314	HP:0100542	Abnormal localization of kidney
OMIM:182290	FLII	2314	HP:0000431	Wide nasal bridge
OMIM:182290	FLII	2314	HP:0001284	Areflexia
OMIM:182290	FLII	2314	HP:0000252	Microcephaly
OMIM:182290	FLII	2314	HP:0007018	Attention deficit hyperactivity disorder
OMIM:182290	FLII	2314	HP:0000272	Malar flattening
OMIM:182290	FLII	2314	HP:0000541	Retinal detachment
OMIM:182290	FLII	2314	HP:0000733	Stereotypic behavior
OMIM:182290	FLII	2314	HP:0001557	Prenatal movement abnormality
OMIM:182290	FLII	2314	HP:0001265	Hyporeflexia
OMIM:182290	FLII	2314	HP:0008678	Renal hypoplasia/aplasia
OMIM:182290	FLII	2314	HP:0001609	Hoarse voice
OMIM:182290	FLII	2314	HP:0012210	Abnormal renal morphology
OMIM:182290	FLII	2314	HP:0001600	Abnormality of the larynx
OMIM:182290	FLII	2314	HP:0002019	Constipation
OMIM:610265	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:610265	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:610265	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:610265	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:610265	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:610265	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:610265	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:610265	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:610265	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:610265	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:610265	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:610265	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:610265	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:610265	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:610265	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:610265	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:610265	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:610265	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:610265	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:610265	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:610265	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:610265	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:610265	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:610265	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:610265	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:610265	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:610265	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:610265	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:610265	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:610265	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:610265	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:610265	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:610265	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:610265	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:610265	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:610265	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:610265	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:610265	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:610265	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:610265	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:610265	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:610265	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:610265	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:610265	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:610265	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:610265	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:610265	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:610265	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:610265	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:610265	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:610265	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:610265	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:610265	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:610265	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:610265	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:610265	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:610265	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:610265	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:610265	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:610265	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:610265	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:610265	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:610265	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:610265	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:610265	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:610265	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:610265	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:610265	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:610265	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:610265	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:610265	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:610265	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:610265	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:610265	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:610265	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:610265	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:610265	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:610265	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:610265	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:610265	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:610265	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:610265	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:610265	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:610265	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:610265	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:610265	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:610265	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:610265	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:610265	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:610265	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:610265	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:610265	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:610265	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:610265	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:610265	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:610265	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:610265	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:610265	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:610265	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:610265	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:610265	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:610265	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:610265	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:610265	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:610265	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:610265	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:610265	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:610265	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:610265	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:610265	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:610265	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:610265	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:610265	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:610265	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:610265	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:610265	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:610265	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:610265	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:610265	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:610265	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:616364	POGZ	23126	HP:0000512	Abnormal electroretinogram
OMIM:616364	POGZ	23126	HP:0002059	Cerebral atrophy
OMIM:616364	POGZ	23126	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:616364	POGZ	23126	HP:0000356	Abnormality of the outer ear
OMIM:616364	POGZ	23126	HP:0001249	Intellectual disability
OMIM:616364	POGZ	23126	HP:0001263	Global developmental delay
OMIM:616364	POGZ	23126	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616364	POGZ	23126	HP:0000006	Autosomal dominant inheritance
OMIM:616364	POGZ	23126	HP:0000708	Behavioral abnormality
OMIM:616364	POGZ	23126	HP:0000612	Iris coloboma
OMIM:616364	POGZ	23126	HP:0000649	Abnormality of visual evoked potentials
OMIM:616364	POGZ	23126	HP:0001290	Generalized hypotonia
OMIM:603813	APOB	338	HP:0002621	Atherosclerosis
OMIM:603813	APOB	338	HP:0003124	Hypercholesterolemia
OMIM:603813	APOB	338	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:603813	APOB	338	HP:0010874	Tendon xanthomatosis
OMIM:603813	APOB	338	HP:0000007	Autosomal recessive inheritance
OMIM:603813	LDLRAP1	26119	HP:0002621	Atherosclerosis
OMIM:603813	LDLRAP1	26119	HP:0003124	Hypercholesterolemia
OMIM:603813	LDLRAP1	26119	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:603813	LDLRAP1	26119	HP:0010874	Tendon xanthomatosis
OMIM:603813	LDLRAP1	26119	HP:0000007	Autosomal recessive inheritance
OMIM:603813	PCSK9	255738	HP:0002621	Atherosclerosis
OMIM:603813	PCSK9	255738	HP:0003124	Hypercholesterolemia
OMIM:603813	PCSK9	255738	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:603813	PCSK9	255738	HP:0010874	Tendon xanthomatosis
OMIM:603813	PCSK9	255738	HP:0000007	Autosomal recessive inheritance
OMIM:603813	LDLR	3949	HP:0002621	Atherosclerosis
OMIM:603813	LDLR	3949	HP:0003124	Hypercholesterolemia
OMIM:603813	LDLR	3949	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:603813	LDLR	3949	HP:0010874	Tendon xanthomatosis
OMIM:603813	LDLR	3949	HP:0000007	Autosomal recessive inheritance
OMIM:600881	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:600881	CRYAB	1410	HP:0000519	Congenital cataract
OMIM:600881	CRYBA1	1411	HP:0000006	Autosomal dominant inheritance
OMIM:600881	CRYBA1	1411	HP:0000519	Congenital cataract
OMIM:600881	HSF4	3299	HP:0000006	Autosomal dominant inheritance
OMIM:600881	HSF4	3299	HP:0000519	Congenital cataract
OMIM:600881	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:600881	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:600881	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:600881	CRYBA4	1413	HP:0000519	Congenital cataract
OMIM:600881	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:600881	AGK	55750	HP:0000519	Congenital cataract
OMIM:600881	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:600881	CRYBB2	1415	HP:0000519	Congenital cataract
OMIM:600881	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:600881	CRYGB	1419	HP:0000519	Congenital cataract
OMIM:600881	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:600881	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:600881	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:600881	MIP	4284	HP:0000519	Congenital cataract
OMIM:600881	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:600881	CRYGC	1420	HP:0000519	Congenital cataract
OMIM:612126	SLC2A1	6513	HP:0002076	Migraine
OMIM:612126	SLC2A1	6513	HP:0002353	EEG abnormality
OMIM:612126	SLC2A1	6513	HP:0003829	Incomplete penetrance
OMIM:612126	SLC2A1	6513	HP:0100660	Dyskinesia
OMIM:612126	SLC2A1	6513	HP:0000737	Irritability
OMIM:612126	SLC2A1	6513	HP:0002059	Cerebral atrophy
OMIM:612126	SLC2A1	6513	HP:0001251	Ataxia
OMIM:612126	SLC2A1	6513	HP:0001266	Choreoathetosis
OMIM:612126	SLC2A1	6513	HP:0100543	Cognitive impairment
OMIM:612126	SLC2A1	6513	HP:0001263	Global developmental delay
OMIM:612126	SLC2A1	6513	HP:0001332	Dystonia
OMIM:612126	SLC2A1	6513	HP:0000006	Autosomal dominant inheritance
OMIM:612126	SLC2A1	6513	HP:0001923	Reticulocytosis
OMIM:612126	PRRT2	112476	HP:0002076	Migraine
OMIM:612126	PRRT2	112476	HP:0002353	EEG abnormality
OMIM:612126	PRRT2	112476	HP:0003829	Incomplete penetrance
OMIM:612126	PRRT2	112476	HP:0100660	Dyskinesia
OMIM:612126	PRRT2	112476	HP:0000737	Irritability
OMIM:612126	PRRT2	112476	HP:0002059	Cerebral atrophy
OMIM:612126	PRRT2	112476	HP:0001251	Ataxia
OMIM:612126	PRRT2	112476	HP:0001266	Choreoathetosis
OMIM:612126	PRRT2	112476	HP:0100543	Cognitive impairment
OMIM:612126	PRRT2	112476	HP:0001263	Global developmental delay
OMIM:612126	PRRT2	112476	HP:0001332	Dystonia
OMIM:612126	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:612126	PRRT2	112476	HP:0001923	Reticulocytosis
OMIM:615528	SYNJ1	8867	HP:0001260	Dysarthria
OMIM:615528	SYNJ1	8867	HP:0002063	Rigidity
OMIM:615528	SYNJ1	8867	HP:0003678	Rapidly progressive
OMIM:615528	SYNJ1	8867	HP:0007256	Abnormal pyramidal signs
OMIM:615528	SYNJ1	8867	HP:0001332	Dystonia
OMIM:615528	SYNJ1	8867	HP:0001300	Parkinsonism
OMIM:615528	SYNJ1	8867	HP:0001250	Seizures
OMIM:615528	SYNJ1	8867	HP:0002067	Bradykinesia
OMIM:615528	SYNJ1	8867	HP:0000007	Autosomal recessive inheritance
OMIM:615528	SYNJ1	8867	HP:0001249	Intellectual disability
OMIM:615528	SYNJ1	8867	HP:0000571	Hypometric saccades
OMIM:615528	SYNJ1	8867	HP:0001337	Tremor
OMIM:615528	SYNJ1	8867	HP:0002172	Postural instability
OMIM:615528	DNAJC6	9829	HP:0001260	Dysarthria
OMIM:615528	DNAJC6	9829	HP:0002063	Rigidity
OMIM:615528	DNAJC6	9829	HP:0003678	Rapidly progressive
OMIM:615528	DNAJC6	9829	HP:0007256	Abnormal pyramidal signs
OMIM:615528	DNAJC6	9829	HP:0001332	Dystonia
OMIM:615528	DNAJC6	9829	HP:0001300	Parkinsonism
OMIM:615528	DNAJC6	9829	HP:0001250	Seizures
OMIM:615528	DNAJC6	9829	HP:0002067	Bradykinesia
OMIM:615528	DNAJC6	9829	HP:0000007	Autosomal recessive inheritance
OMIM:615528	DNAJC6	9829	HP:0001249	Intellectual disability
OMIM:615528	DNAJC6	9829	HP:0000571	Hypometric saccades
OMIM:615528	DNAJC6	9829	HP:0001337	Tremor
OMIM:615528	DNAJC6	9829	HP:0002172	Postural instability
OMIM:615361	CASR	846	HP:0003401	Paresthesia
OMIM:615361	CASR	846	HP:0000006	Autosomal dominant inheritance
OMIM:615361	CASR	846	HP:0002901	Hypocalcemia
OMIM:615361	CASR	846	HP:0002135	Basal ganglia calcification
OMIM:615361	CASR	846	HP:0003394	Muscle cramps
OMIM:615361	CASR	846	HP:0008897	Postnatal growth retardation
OMIM:615361	GNA11	2767	HP:0003401	Paresthesia
OMIM:615361	GNA11	2767	HP:0000006	Autosomal dominant inheritance
OMIM:615361	GNA11	2767	HP:0002901	Hypocalcemia
OMIM:615361	GNA11	2767	HP:0002135	Basal ganglia calcification
OMIM:615361	GNA11	2767	HP:0003394	Muscle cramps
OMIM:615361	GNA11	2767	HP:0008897	Postnatal growth retardation
OMIM:615922	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:615922	RLBP1	6017	HP:0000546	Retinal degeneration
OMIM:615922	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:615922	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:615922	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:615922	SPATA7	55812	HP:0000546	Retinal degeneration
OMIM:615922	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:615922	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:615922	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:615922	ARL6	84100	HP:0000546	Retinal degeneration
OMIM:615922	ARL6	84100	HP:0000662	Nyctalopia
OMIM:615922	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615922	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:615922	CERKL	375298	HP:0000546	Retinal degeneration
OMIM:615922	CERKL	375298	HP:0000662	Nyctalopia
OMIM:615922	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:615922	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:615922	PRPF31	26121	HP:0000546	Retinal degeneration
OMIM:615922	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:615922	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:615922	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:615922	TTC8	123016	HP:0000546	Retinal degeneration
OMIM:615922	TTC8	123016	HP:0000662	Nyctalopia
OMIM:615922	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615922	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:615922	PROM1	8842	HP:0000546	Retinal degeneration
OMIM:615922	PROM1	8842	HP:0000662	Nyctalopia
OMIM:615922	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:615922	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:615922	LRAT	9227	HP:0000546	Retinal degeneration
OMIM:615922	LRAT	9227	HP:0000662	Nyctalopia
OMIM:615922	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:615922	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:615922	IFT140	9742	HP:0000546	Retinal degeneration
OMIM:615922	IFT140	9742	HP:0000662	Nyctalopia
OMIM:615922	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:615922	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:615922	BEST1	7439	HP:0000546	Retinal degeneration
OMIM:615922	BEST1	7439	HP:0000662	Nyctalopia
OMIM:615922	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:615922	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:615922	NEK2	4751	HP:0000546	Retinal degeneration
OMIM:615922	NEK2	4751	HP:0000662	Nyctalopia
OMIM:615922	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:615922	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:615922	ARL2BP	23568	HP:0000546	Retinal degeneration
OMIM:615922	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:615922	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:615922	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:615922	NR2E3	10002	HP:0000546	Retinal degeneration
OMIM:615922	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:615922	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:615922	EYS	346007	HP:0000543	Optic disc pallor
OMIM:615922	EYS	346007	HP:0000546	Retinal degeneration
OMIM:615922	EYS	346007	HP:0000662	Nyctalopia
OMIM:615922	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:615922	MAK	4117	HP:0000543	Optic disc pallor
OMIM:615922	MAK	4117	HP:0000546	Retinal degeneration
OMIM:615922	MAK	4117	HP:0000662	Nyctalopia
OMIM:615922	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:615922	SAG	6295	HP:0000543	Optic disc pallor
OMIM:615922	SAG	6295	HP:0000546	Retinal degeneration
OMIM:615922	SAG	6295	HP:0000662	Nyctalopia
OMIM:615922	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:615922	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:615922	ABCA4	24	HP:0000546	Retinal degeneration
OMIM:615922	ABCA4	24	HP:0000662	Nyctalopia
OMIM:615922	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:615922	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:615922	PDE6A	5145	HP:0000546	Retinal degeneration
OMIM:615922	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:615922	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:615922	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:615922	PDE6G	5148	HP:0000546	Retinal degeneration
OMIM:615922	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:615922	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:615922	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:615922	IMPDH1	3614	HP:0000546	Retinal degeneration
OMIM:615922	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:615922	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:615922	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:615922	OFD1	8481	HP:0000546	Retinal degeneration
OMIM:615922	OFD1	8481	HP:0000662	Nyctalopia
OMIM:615922	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:615922	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:615922	GUCA1B	2979	HP:0000546	Retinal degeneration
OMIM:615922	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:615922	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:615922	NRL	4901	HP:0000543	Optic disc pallor
OMIM:615922	NRL	4901	HP:0000546	Retinal degeneration
OMIM:615922	NRL	4901	HP:0000662	Nyctalopia
OMIM:615922	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:615922	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:615922	PDE6B	5158	HP:0000546	Retinal degeneration
OMIM:615922	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:615922	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:615922	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:615922	KLHL7	55975	HP:0000546	Retinal degeneration
OMIM:615922	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:615922	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:615922	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:615922	PRPF4	9128	HP:0000546	Retinal degeneration
OMIM:615922	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:615922	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:615922	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:615922	PRPF3	9129	HP:0000546	Retinal degeneration
OMIM:615922	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:615922	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:615922	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:615922	FAM161A	84140	HP:0000546	Retinal degeneration
OMIM:615922	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:615922	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:615922	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:615922	IFT172	26160	HP:0000546	Retinal degeneration
OMIM:615922	IFT172	26160	HP:0000662	Nyctalopia
OMIM:615922	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615922	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:615922	KIZ	55857	HP:0000546	Retinal degeneration
OMIM:615922	KIZ	55857	HP:0000662	Nyctalopia
OMIM:615922	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:615922	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:615922	CDHR1	92211	HP:0000546	Retinal degeneration
OMIM:615922	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:615922	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:615922	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:615922	ZNF408	79797	HP:0000546	Retinal degeneration
OMIM:615922	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:615922	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:615922	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:615922	RBP3	5949	HP:0000546	Retinal degeneration
OMIM:615922	RBP3	5949	HP:0000662	Nyctalopia
OMIM:615922	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:615922	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:615922	HGSNAT	138050	HP:0000546	Retinal degeneration
OMIM:615922	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:615922	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:615922	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:615922	FSCN2	25794	HP:0000546	Retinal degeneration
OMIM:615922	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:615922	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:615922	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:615922	PRCD	768206	HP:0000546	Retinal degeneration
OMIM:615922	PRCD	768206	HP:0000662	Nyctalopia
OMIM:615922	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:615922	BBS2	583	HP:0000543	Optic disc pallor
OMIM:615922	BBS2	583	HP:0000546	Retinal degeneration
OMIM:615922	BBS2	583	HP:0000662	Nyctalopia
OMIM:615922	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615922	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:615922	RDH12	145226	HP:0000546	Retinal degeneration
OMIM:615922	RDH12	145226	HP:0000662	Nyctalopia
OMIM:615922	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:615922	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:615922	PRPH2	5961	HP:0000546	Retinal degeneration
OMIM:615922	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:615922	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:615922	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:615922	DHDDS	79947	HP:0000546	Retinal degeneration
OMIM:615922	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:615922	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:615922	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:615922	ROM1	6094	HP:0000546	Retinal degeneration
OMIM:615922	ROM1	6094	HP:0000662	Nyctalopia
OMIM:615922	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:615922	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:615922	C2ORF71	388939	HP:0000546	Retinal degeneration
OMIM:615922	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:615922	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:615922	RP9	6100	HP:0000543	Optic disc pallor
OMIM:615922	RP9	6100	HP:0000546	Retinal degeneration
OMIM:615922	RP9	6100	HP:0000662	Nyctalopia
OMIM:615922	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:615922	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:615922	PRPF6	24148	HP:0000546	Retinal degeneration
OMIM:615922	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:615922	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:615922	RP1	6101	HP:0000543	Optic disc pallor
OMIM:615922	RP1	6101	HP:0000546	Retinal degeneration
OMIM:615922	RP1	6101	HP:0000662	Nyctalopia
OMIM:615922	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:615922	RP2	6102	HP:0000543	Optic disc pallor
OMIM:615922	RP2	6102	HP:0000546	Retinal degeneration
OMIM:615922	RP2	6102	HP:0000662	Nyctalopia
OMIM:615922	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:615922	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:615922	RPGR	6103	HP:0000546	Retinal degeneration
OMIM:615922	RPGR	6103	HP:0000662	Nyctalopia
OMIM:615922	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:615922	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:615922	SEMA4A	64218	HP:0000546	Retinal degeneration
OMIM:615922	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:615922	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:615922	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:615922	C8ORF37	157657	HP:0000546	Retinal degeneration
OMIM:615922	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:615922	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:615922	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:615922	IDH3B	3420	HP:0000546	Retinal degeneration
OMIM:615922	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:615922	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:615922	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:615922	MERTK	10461	HP:0000546	Retinal degeneration
OMIM:615922	MERTK	10461	HP:0000662	Nyctalopia
OMIM:615922	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:615922	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:615922	PRPF8	10594	HP:0000546	Retinal degeneration
OMIM:615922	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:615922	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:615922	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:615922	TOPORS	10210	HP:0000546	Retinal degeneration
OMIM:615922	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:615922	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:615922	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:615922	USH2A	7399	HP:0000546	Retinal degeneration
OMIM:615922	USH2A	7399	HP:0000662	Nyctalopia
OMIM:615922	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:615922	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:615922	RPE65	6121	HP:0000546	Retinal degeneration
OMIM:615922	RPE65	6121	HP:0000662	Nyctalopia
OMIM:615922	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:615922	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:615922	CLRN1	7401	HP:0000546	Retinal degeneration
OMIM:615922	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:615922	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:615922	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:615922	CNGB1	1258	HP:0000546	Retinal degeneration
OMIM:615922	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:615922	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:615922	RGR	5995	HP:0000543	Optic disc pallor
OMIM:615922	RGR	5995	HP:0000546	Retinal degeneration
OMIM:615922	RGR	5995	HP:0000662	Nyctalopia
OMIM:615922	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:615922	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:615922	CNGA1	1259	HP:0000546	Retinal degeneration
OMIM:615922	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:615922	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:615922	TUB	7275	HP:0000543	Optic disc pallor
OMIM:615922	TUB	7275	HP:0000546	Retinal degeneration
OMIM:615922	TUB	7275	HP:0000662	Nyctalopia
OMIM:615922	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:615922	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:615922	SNRNP200	23020	HP:0000546	Retinal degeneration
OMIM:615922	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:615922	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:615922	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:615922	SLC7A14	57709	HP:0000546	Retinal degeneration
OMIM:615922	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:615922	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:615922	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:615922	TULP1	7287	HP:0000546	Retinal degeneration
OMIM:615922	TULP1	7287	HP:0000662	Nyctalopia
OMIM:615922	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:615922	RHO	6010	HP:0000543	Optic disc pallor
OMIM:615922	RHO	6010	HP:0000546	Retinal degeneration
OMIM:615922	RHO	6010	HP:0000662	Nyctalopia
OMIM:615922	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:615922	CA4	762	HP:0000543	Optic disc pallor
OMIM:615922	CA4	762	HP:0000546	Retinal degeneration
OMIM:615922	CA4	762	HP:0000662	Nyctalopia
OMIM:615922	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:615922	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:615922	CRB1	23418	HP:0000546	Retinal degeneration
OMIM:615922	CRB1	23418	HP:0000662	Nyctalopia
OMIM:615922	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:615922	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:615922	IMPG2	50939	HP:0000546	Retinal degeneration
OMIM:615922	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:615922	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:615922	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:615922	ZNF513	130557	HP:0000546	Retinal degeneration
OMIM:615922	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:615922	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:615922	CRX	1406	HP:0000543	Optic disc pallor
OMIM:615922	CRX	1406	HP:0000546	Retinal degeneration
OMIM:615922	CRX	1406	HP:0000662	Nyctalopia
OMIM:615922	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:146800	KRT2	3849	HP:0000982	Palmoplantar keratoderma
OMIM:146800	KRT2	3849	HP:0000963	Thin skin
OMIM:146800	KRT2	3849	HP:0000969	Edema
OMIM:146800	KRT2	3849	HP:0000006	Autosomal dominant inheritance
OMIM:312612	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:312612	RLBP1	6017	HP:0002205	Recurrent respiratory infections
OMIM:312612	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:312612	RLBP1	6017	HP:0012263	Immotile cilia
OMIM:312612	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:312612	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:312612	RLBP1	6017	HP:0200065	Chorioretinal degeneration
OMIM:312612	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:312612	SPATA7	55812	HP:0002205	Recurrent respiratory infections
OMIM:312612	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:312612	SPATA7	55812	HP:0012263	Immotile cilia
OMIM:312612	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:312612	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:312612	SPATA7	55812	HP:0200065	Chorioretinal degeneration
OMIM:312612	ARL6	84100	HP:0000662	Nyctalopia
OMIM:312612	ARL6	84100	HP:0002205	Recurrent respiratory infections
OMIM:312612	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:312612	ARL6	84100	HP:0012263	Immotile cilia
OMIM:312612	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:312612	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:312612	ARL6	84100	HP:0200065	Chorioretinal degeneration
OMIM:312612	CERKL	375298	HP:0000662	Nyctalopia
OMIM:312612	CERKL	375298	HP:0002205	Recurrent respiratory infections
OMIM:312612	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:312612	CERKL	375298	HP:0012263	Immotile cilia
OMIM:312612	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:312612	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:312612	CERKL	375298	HP:0200065	Chorioretinal degeneration
OMIM:312612	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:312612	PRPF31	26121	HP:0002205	Recurrent respiratory infections
OMIM:312612	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:312612	PRPF31	26121	HP:0012263	Immotile cilia
OMIM:312612	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:312612	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:312612	PRPF31	26121	HP:0200065	Chorioretinal degeneration
OMIM:312612	TTC8	123016	HP:0000662	Nyctalopia
OMIM:312612	TTC8	123016	HP:0002205	Recurrent respiratory infections
OMIM:312612	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:312612	TTC8	123016	HP:0012263	Immotile cilia
OMIM:312612	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:312612	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:312612	TTC8	123016	HP:0200065	Chorioretinal degeneration
OMIM:312612	PROM1	8842	HP:0000662	Nyctalopia
OMIM:312612	PROM1	8842	HP:0002205	Recurrent respiratory infections
OMIM:312612	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:312612	PROM1	8842	HP:0012263	Immotile cilia
OMIM:312612	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:312612	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:312612	PROM1	8842	HP:0200065	Chorioretinal degeneration
OMIM:312612	LRAT	9227	HP:0000662	Nyctalopia
OMIM:312612	LRAT	9227	HP:0002205	Recurrent respiratory infections
OMIM:312612	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:312612	LRAT	9227	HP:0012263	Immotile cilia
OMIM:312612	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:312612	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:312612	LRAT	9227	HP:0200065	Chorioretinal degeneration
OMIM:312612	IFT140	9742	HP:0000662	Nyctalopia
OMIM:312612	IFT140	9742	HP:0002205	Recurrent respiratory infections
OMIM:312612	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:312612	IFT140	9742	HP:0012263	Immotile cilia
OMIM:312612	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:312612	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:312612	IFT140	9742	HP:0200065	Chorioretinal degeneration
OMIM:312612	BEST1	7439	HP:0000662	Nyctalopia
OMIM:312612	BEST1	7439	HP:0002205	Recurrent respiratory infections
OMIM:312612	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:312612	BEST1	7439	HP:0012263	Immotile cilia
OMIM:312612	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:312612	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:312612	BEST1	7439	HP:0200065	Chorioretinal degeneration
OMIM:312612	NEK2	4751	HP:0000662	Nyctalopia
OMIM:312612	NEK2	4751	HP:0002205	Recurrent respiratory infections
OMIM:312612	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:312612	NEK2	4751	HP:0012263	Immotile cilia
OMIM:312612	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:312612	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:312612	NEK2	4751	HP:0200065	Chorioretinal degeneration
OMIM:312612	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:312612	ARL2BP	23568	HP:0002205	Recurrent respiratory infections
OMIM:312612	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:312612	ARL2BP	23568	HP:0012263	Immotile cilia
OMIM:312612	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:312612	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:312612	ARL2BP	23568	HP:0200065	Chorioretinal degeneration
OMIM:312612	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:312612	NR2E3	10002	HP:0002205	Recurrent respiratory infections
OMIM:312612	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:312612	NR2E3	10002	HP:0012263	Immotile cilia
OMIM:312612	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:312612	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:312612	NR2E3	10002	HP:0200065	Chorioretinal degeneration
OMIM:312612	EYS	346007	HP:0000662	Nyctalopia
OMIM:312612	EYS	346007	HP:0002205	Recurrent respiratory infections
OMIM:312612	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:312612	EYS	346007	HP:0012263	Immotile cilia
OMIM:312612	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:312612	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:312612	EYS	346007	HP:0200065	Chorioretinal degeneration
OMIM:312612	MAK	4117	HP:0000662	Nyctalopia
OMIM:312612	MAK	4117	HP:0002205	Recurrent respiratory infections
OMIM:312612	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:312612	MAK	4117	HP:0012263	Immotile cilia
OMIM:312612	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:312612	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:312612	MAK	4117	HP:0200065	Chorioretinal degeneration
OMIM:312612	SAG	6295	HP:0000662	Nyctalopia
OMIM:312612	SAG	6295	HP:0002205	Recurrent respiratory infections
OMIM:312612	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:312612	SAG	6295	HP:0012263	Immotile cilia
OMIM:312612	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:312612	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:312612	SAG	6295	HP:0200065	Chorioretinal degeneration
OMIM:312612	ABCA4	24	HP:0000662	Nyctalopia
OMIM:312612	ABCA4	24	HP:0002205	Recurrent respiratory infections
OMIM:312612	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:312612	ABCA4	24	HP:0012263	Immotile cilia
OMIM:312612	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:312612	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:312612	ABCA4	24	HP:0200065	Chorioretinal degeneration
OMIM:312612	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:312612	PDE6A	5145	HP:0002205	Recurrent respiratory infections
OMIM:312612	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:312612	PDE6A	5145	HP:0012263	Immotile cilia
OMIM:312612	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:312612	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:312612	PDE6A	5145	HP:0200065	Chorioretinal degeneration
OMIM:312612	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:312612	PDE6G	5148	HP:0002205	Recurrent respiratory infections
OMIM:312612	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:312612	PDE6G	5148	HP:0012263	Immotile cilia
OMIM:312612	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:312612	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:312612	PDE6G	5148	HP:0200065	Chorioretinal degeneration
OMIM:312612	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:312612	IMPDH1	3614	HP:0002205	Recurrent respiratory infections
OMIM:312612	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:312612	IMPDH1	3614	HP:0012263	Immotile cilia
OMIM:312612	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:312612	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:312612	IMPDH1	3614	HP:0200065	Chorioretinal degeneration
OMIM:312612	OFD1	8481	HP:0000662	Nyctalopia
OMIM:312612	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:312612	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:312612	OFD1	8481	HP:0012263	Immotile cilia
OMIM:312612	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:312612	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:312612	OFD1	8481	HP:0200065	Chorioretinal degeneration
OMIM:312612	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:312612	GUCA1B	2979	HP:0002205	Recurrent respiratory infections
OMIM:312612	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:312612	GUCA1B	2979	HP:0012263	Immotile cilia
OMIM:312612	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:312612	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:312612	GUCA1B	2979	HP:0200065	Chorioretinal degeneration
OMIM:312612	NRL	4901	HP:0000662	Nyctalopia
OMIM:312612	NRL	4901	HP:0002205	Recurrent respiratory infections
OMIM:312612	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:312612	NRL	4901	HP:0012263	Immotile cilia
OMIM:312612	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:312612	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:312612	NRL	4901	HP:0200065	Chorioretinal degeneration
OMIM:312612	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:312612	PDE6B	5158	HP:0002205	Recurrent respiratory infections
OMIM:312612	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:312612	PDE6B	5158	HP:0012263	Immotile cilia
OMIM:312612	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:312612	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:312612	PDE6B	5158	HP:0200065	Chorioretinal degeneration
OMIM:312612	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:312612	KLHL7	55975	HP:0002205	Recurrent respiratory infections
OMIM:312612	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:312612	KLHL7	55975	HP:0012263	Immotile cilia
OMIM:312612	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:312612	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:312612	KLHL7	55975	HP:0200065	Chorioretinal degeneration
OMIM:312612	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:312612	PRPF4	9128	HP:0002205	Recurrent respiratory infections
OMIM:312612	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:312612	PRPF4	9128	HP:0012263	Immotile cilia
OMIM:312612	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:312612	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:312612	PRPF4	9128	HP:0200065	Chorioretinal degeneration
OMIM:312612	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:312612	PRPF3	9129	HP:0002205	Recurrent respiratory infections
OMIM:312612	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:312612	PRPF3	9129	HP:0012263	Immotile cilia
OMIM:312612	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:312612	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:312612	PRPF3	9129	HP:0200065	Chorioretinal degeneration
OMIM:312612	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:312612	FAM161A	84140	HP:0002205	Recurrent respiratory infections
OMIM:312612	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:312612	FAM161A	84140	HP:0012263	Immotile cilia
OMIM:312612	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:312612	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:312612	FAM161A	84140	HP:0200065	Chorioretinal degeneration
OMIM:312612	IFT172	26160	HP:0000662	Nyctalopia
OMIM:312612	IFT172	26160	HP:0002205	Recurrent respiratory infections
OMIM:312612	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:312612	IFT172	26160	HP:0012263	Immotile cilia
OMIM:312612	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:312612	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:312612	IFT172	26160	HP:0200065	Chorioretinal degeneration
OMIM:312612	KIZ	55857	HP:0000662	Nyctalopia
OMIM:312612	KIZ	55857	HP:0002205	Recurrent respiratory infections
OMIM:312612	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:312612	KIZ	55857	HP:0012263	Immotile cilia
OMIM:312612	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:312612	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:312612	KIZ	55857	HP:0200065	Chorioretinal degeneration
OMIM:312612	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:312612	CDHR1	92211	HP:0002205	Recurrent respiratory infections
OMIM:312612	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:312612	CDHR1	92211	HP:0012263	Immotile cilia
OMIM:312612	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:312612	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:312612	CDHR1	92211	HP:0200065	Chorioretinal degeneration
OMIM:312612	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:312612	ZNF408	79797	HP:0002205	Recurrent respiratory infections
OMIM:312612	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:312612	ZNF408	79797	HP:0012263	Immotile cilia
OMIM:312612	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:312612	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:312612	ZNF408	79797	HP:0200065	Chorioretinal degeneration
OMIM:312612	RBP3	5949	HP:0000662	Nyctalopia
OMIM:312612	RBP3	5949	HP:0002205	Recurrent respiratory infections
OMIM:312612	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:312612	RBP3	5949	HP:0012263	Immotile cilia
OMIM:312612	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:312612	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:312612	RBP3	5949	HP:0200065	Chorioretinal degeneration
OMIM:312612	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:312612	HGSNAT	138050	HP:0002205	Recurrent respiratory infections
OMIM:312612	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:312612	HGSNAT	138050	HP:0012263	Immotile cilia
OMIM:312612	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:312612	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:312612	HGSNAT	138050	HP:0200065	Chorioretinal degeneration
OMIM:312612	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:312612	FSCN2	25794	HP:0002205	Recurrent respiratory infections
OMIM:312612	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:312612	FSCN2	25794	HP:0012263	Immotile cilia
OMIM:312612	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:312612	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:312612	FSCN2	25794	HP:0200065	Chorioretinal degeneration
OMIM:312612	PRCD	768206	HP:0000662	Nyctalopia
OMIM:312612	PRCD	768206	HP:0002205	Recurrent respiratory infections
OMIM:312612	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:312612	PRCD	768206	HP:0012263	Immotile cilia
OMIM:312612	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:312612	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:312612	PRCD	768206	HP:0200065	Chorioretinal degeneration
OMIM:312612	BBS2	583	HP:0000662	Nyctalopia
OMIM:312612	BBS2	583	HP:0002205	Recurrent respiratory infections
OMIM:312612	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:312612	BBS2	583	HP:0012263	Immotile cilia
OMIM:312612	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:312612	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:312612	BBS2	583	HP:0200065	Chorioretinal degeneration
OMIM:312612	RDH12	145226	HP:0000662	Nyctalopia
OMIM:312612	RDH12	145226	HP:0002205	Recurrent respiratory infections
OMIM:312612	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:312612	RDH12	145226	HP:0012263	Immotile cilia
OMIM:312612	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:312612	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:312612	RDH12	145226	HP:0200065	Chorioretinal degeneration
OMIM:312612	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:312612	PRPH2	5961	HP:0002205	Recurrent respiratory infections
OMIM:312612	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:312612	PRPH2	5961	HP:0012263	Immotile cilia
OMIM:312612	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:312612	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:312612	PRPH2	5961	HP:0200065	Chorioretinal degeneration
OMIM:312612	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:312612	DHDDS	79947	HP:0002205	Recurrent respiratory infections
OMIM:312612	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:312612	DHDDS	79947	HP:0012263	Immotile cilia
OMIM:312612	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:312612	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:312612	DHDDS	79947	HP:0200065	Chorioretinal degeneration
OMIM:312612	ROM1	6094	HP:0000662	Nyctalopia
OMIM:312612	ROM1	6094	HP:0002205	Recurrent respiratory infections
OMIM:312612	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:312612	ROM1	6094	HP:0012263	Immotile cilia
OMIM:312612	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:312612	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:312612	ROM1	6094	HP:0200065	Chorioretinal degeneration
OMIM:312612	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:312612	C2ORF71	388939	HP:0002205	Recurrent respiratory infections
OMIM:312612	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:312612	C2ORF71	388939	HP:0012263	Immotile cilia
OMIM:312612	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:312612	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:312612	C2ORF71	388939	HP:0200065	Chorioretinal degeneration
OMIM:312612	RP9	6100	HP:0000662	Nyctalopia
OMIM:312612	RP9	6100	HP:0002205	Recurrent respiratory infections
OMIM:312612	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:312612	RP9	6100	HP:0012263	Immotile cilia
OMIM:312612	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:312612	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:312612	RP9	6100	HP:0200065	Chorioretinal degeneration
OMIM:312612	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:312612	PRPF6	24148	HP:0002205	Recurrent respiratory infections
OMIM:312612	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:312612	PRPF6	24148	HP:0012263	Immotile cilia
OMIM:312612	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:312612	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:312612	PRPF6	24148	HP:0200065	Chorioretinal degeneration
OMIM:312612	RP1	6101	HP:0000662	Nyctalopia
OMIM:312612	RP1	6101	HP:0002205	Recurrent respiratory infections
OMIM:312612	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:312612	RP1	6101	HP:0012263	Immotile cilia
OMIM:312612	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:312612	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:312612	RP1	6101	HP:0200065	Chorioretinal degeneration
OMIM:312612	RP2	6102	HP:0000662	Nyctalopia
OMIM:312612	RP2	6102	HP:0002205	Recurrent respiratory infections
OMIM:312612	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:312612	RP2	6102	HP:0012263	Immotile cilia
OMIM:312612	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:312612	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:312612	RP2	6102	HP:0200065	Chorioretinal degeneration
OMIM:312612	RPGR	6103	HP:0000662	Nyctalopia
OMIM:312612	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:312612	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:312612	RPGR	6103	HP:0012263	Immotile cilia
OMIM:312612	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:312612	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:312612	RPGR	6103	HP:0200065	Chorioretinal degeneration
OMIM:312612	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:312612	SEMA4A	64218	HP:0002205	Recurrent respiratory infections
OMIM:312612	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:312612	SEMA4A	64218	HP:0012263	Immotile cilia
OMIM:312612	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:312612	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:312612	SEMA4A	64218	HP:0200065	Chorioretinal degeneration
OMIM:312612	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:312612	C8ORF37	157657	HP:0002205	Recurrent respiratory infections
OMIM:312612	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:312612	C8ORF37	157657	HP:0012263	Immotile cilia
OMIM:312612	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:312612	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:312612	C8ORF37	157657	HP:0200065	Chorioretinal degeneration
OMIM:312612	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:312612	IDH3B	3420	HP:0002205	Recurrent respiratory infections
OMIM:312612	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:312612	IDH3B	3420	HP:0012263	Immotile cilia
OMIM:312612	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:312612	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:312612	IDH3B	3420	HP:0200065	Chorioretinal degeneration
OMIM:312612	MERTK	10461	HP:0000662	Nyctalopia
OMIM:312612	MERTK	10461	HP:0002205	Recurrent respiratory infections
OMIM:312612	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:312612	MERTK	10461	HP:0012263	Immotile cilia
OMIM:312612	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:312612	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:312612	MERTK	10461	HP:0200065	Chorioretinal degeneration
OMIM:312612	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:312612	PRPF8	10594	HP:0002205	Recurrent respiratory infections
OMIM:312612	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:312612	PRPF8	10594	HP:0012263	Immotile cilia
OMIM:312612	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:312612	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:312612	PRPF8	10594	HP:0200065	Chorioretinal degeneration
OMIM:312612	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:312612	TOPORS	10210	HP:0002205	Recurrent respiratory infections
OMIM:312612	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:312612	TOPORS	10210	HP:0012263	Immotile cilia
OMIM:312612	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:312612	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:312612	TOPORS	10210	HP:0200065	Chorioretinal degeneration
OMIM:312612	USH2A	7399	HP:0000662	Nyctalopia
OMIM:312612	USH2A	7399	HP:0002205	Recurrent respiratory infections
OMIM:312612	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:312612	USH2A	7399	HP:0012263	Immotile cilia
OMIM:312612	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:312612	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:312612	USH2A	7399	HP:0200065	Chorioretinal degeneration
OMIM:312612	RPE65	6121	HP:0000662	Nyctalopia
OMIM:312612	RPE65	6121	HP:0002205	Recurrent respiratory infections
OMIM:312612	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:312612	RPE65	6121	HP:0012263	Immotile cilia
OMIM:312612	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:312612	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:312612	RPE65	6121	HP:0200065	Chorioretinal degeneration
OMIM:312612	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:312612	CLRN1	7401	HP:0002205	Recurrent respiratory infections
OMIM:312612	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:312612	CLRN1	7401	HP:0012263	Immotile cilia
OMIM:312612	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:312612	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:312612	CLRN1	7401	HP:0200065	Chorioretinal degeneration
OMIM:312612	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:312612	CNGB1	1258	HP:0002205	Recurrent respiratory infections
OMIM:312612	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:312612	CNGB1	1258	HP:0012263	Immotile cilia
OMIM:312612	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:312612	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:312612	CNGB1	1258	HP:0200065	Chorioretinal degeneration
OMIM:312612	RGR	5995	HP:0000662	Nyctalopia
OMIM:312612	RGR	5995	HP:0002205	Recurrent respiratory infections
OMIM:312612	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:312612	RGR	5995	HP:0012263	Immotile cilia
OMIM:312612	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:312612	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:312612	RGR	5995	HP:0200065	Chorioretinal degeneration
OMIM:312612	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:312612	CNGA1	1259	HP:0002205	Recurrent respiratory infections
OMIM:312612	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:312612	CNGA1	1259	HP:0012263	Immotile cilia
OMIM:312612	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:312612	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:312612	CNGA1	1259	HP:0200065	Chorioretinal degeneration
OMIM:312612	TUB	7275	HP:0000662	Nyctalopia
OMIM:312612	TUB	7275	HP:0002205	Recurrent respiratory infections
OMIM:312612	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:312612	TUB	7275	HP:0012263	Immotile cilia
OMIM:312612	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:312612	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:312612	TUB	7275	HP:0200065	Chorioretinal degeneration
OMIM:312612	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:312612	SNRNP200	23020	HP:0002205	Recurrent respiratory infections
OMIM:312612	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:312612	SNRNP200	23020	HP:0012263	Immotile cilia
OMIM:312612	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:312612	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:312612	SNRNP200	23020	HP:0200065	Chorioretinal degeneration
OMIM:312612	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:312612	SLC7A14	57709	HP:0002205	Recurrent respiratory infections
OMIM:312612	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:312612	SLC7A14	57709	HP:0012263	Immotile cilia
OMIM:312612	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:312612	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:312612	SLC7A14	57709	HP:0200065	Chorioretinal degeneration
OMIM:312612	TULP1	7287	HP:0000662	Nyctalopia
OMIM:312612	TULP1	7287	HP:0002205	Recurrent respiratory infections
OMIM:312612	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:312612	TULP1	7287	HP:0012263	Immotile cilia
OMIM:312612	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:312612	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:312612	TULP1	7287	HP:0200065	Chorioretinal degeneration
OMIM:312612	RHO	6010	HP:0000662	Nyctalopia
OMIM:312612	RHO	6010	HP:0002205	Recurrent respiratory infections
OMIM:312612	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:312612	RHO	6010	HP:0012263	Immotile cilia
OMIM:312612	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:312612	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:312612	RHO	6010	HP:0200065	Chorioretinal degeneration
OMIM:312612	CA4	762	HP:0000662	Nyctalopia
OMIM:312612	CA4	762	HP:0002205	Recurrent respiratory infections
OMIM:312612	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:312612	CA4	762	HP:0012263	Immotile cilia
OMIM:312612	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:312612	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:312612	CA4	762	HP:0200065	Chorioretinal degeneration
OMIM:312612	CRB1	23418	HP:0000662	Nyctalopia
OMIM:312612	CRB1	23418	HP:0002205	Recurrent respiratory infections
OMIM:312612	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:312612	CRB1	23418	HP:0012263	Immotile cilia
OMIM:312612	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:312612	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:312612	CRB1	23418	HP:0200065	Chorioretinal degeneration
OMIM:312612	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:312612	IMPG2	50939	HP:0002205	Recurrent respiratory infections
OMIM:312612	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:312612	IMPG2	50939	HP:0012263	Immotile cilia
OMIM:312612	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:312612	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:312612	IMPG2	50939	HP:0200065	Chorioretinal degeneration
OMIM:312612	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:312612	ZNF513	130557	HP:0002205	Recurrent respiratory infections
OMIM:312612	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:312612	ZNF513	130557	HP:0012263	Immotile cilia
OMIM:312612	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:312612	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:312612	ZNF513	130557	HP:0200065	Chorioretinal degeneration
OMIM:312612	CRX	1406	HP:0000662	Nyctalopia
OMIM:312612	CRX	1406	HP:0002205	Recurrent respiratory infections
OMIM:312612	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:312612	CRX	1406	HP:0012263	Immotile cilia
OMIM:312612	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:312612	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:312612	CRX	1406	HP:0200065	Chorioretinal degeneration
OMIM:607841	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:607841	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:607841	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:607841	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:607841	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:607841	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:607841	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:607841	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:607841	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:607841	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:607841	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:607841	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:607841	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:607841	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:607841	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:607841	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:607841	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:607841	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:607841	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:607841	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:607841	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:607841	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:607841	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:607841	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:607841	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:607841	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:607841	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:607841	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:607841	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:607841	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:607841	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:607841	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:607841	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:607841	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:607841	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:607841	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:607841	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:607841	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:607841	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:607841	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:607841	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:607841	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:607841	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:607841	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:607841	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:607841	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:607841	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:607841	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:607841	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:607841	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:607841	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:607841	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:607841	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:607841	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:607841	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:607841	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:607841	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:607841	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:607841	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:607841	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:607841	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:607841	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:607841	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:607841	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:607841	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:607841	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:607841	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:607841	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:607841	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:607841	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:605389	RPL21	6144	HP:0000007	Autosomal recessive inheritance
OMIM:605389	RPL21	6144	HP:0000006	Autosomal dominant inheritance
OMIM:605389	LPAR6	10161	HP:0000007	Autosomal recessive inheritance
OMIM:605389	LPAR6	10161	HP:0000006	Autosomal dominant inheritance
OMIM:605389	DSG4	147409	HP:0000007	Autosomal recessive inheritance
OMIM:605389	DSG4	147409	HP:0000006	Autosomal dominant inheritance
OMIM:605389	APCDD1	147495	HP:0000007	Autosomal recessive inheritance
OMIM:605389	APCDD1	147495	HP:0000006	Autosomal dominant inheritance
OMIM:605389	SNRPE	6635	HP:0000007	Autosomal recessive inheritance
OMIM:605389	SNRPE	6635	HP:0000006	Autosomal dominant inheritance
OMIM:605389	LIPH	200879	HP:0000007	Autosomal recessive inheritance
OMIM:605389	LIPH	200879	HP:0000006	Autosomal dominant inheritance
OMIM:126050	TNNI2	7136	HP:0000006	Autosomal dominant inheritance
OMIM:126050	TNNI2	7136	HP:0009465	Ulnar deviation of finger
OMIM:126050	TNNI2	7136	HP:0001838	Rocker bottom foot
OMIM:126050	TNNI2	7136	HP:0100490	Camptodactyly of finger
OMIM:126050	TPM2	7169	HP:0000006	Autosomal dominant inheritance
OMIM:126050	TPM2	7169	HP:0009465	Ulnar deviation of finger
OMIM:126050	TPM2	7169	HP:0001838	Rocker bottom foot
OMIM:126050	TPM2	7169	HP:0100490	Camptodactyly of finger
OMIM:126050	TNNT3	7140	HP:0000006	Autosomal dominant inheritance
OMIM:126050	TNNT3	7140	HP:0009465	Ulnar deviation of finger
OMIM:126050	TNNT3	7140	HP:0001838	Rocker bottom foot
OMIM:126050	TNNT3	7140	HP:0100490	Camptodactyly of finger
OMIM:126050	MYBPC1	4604	HP:0000006	Autosomal dominant inheritance
OMIM:126050	MYBPC1	4604	HP:0009465	Ulnar deviation of finger
OMIM:126050	MYBPC1	4604	HP:0001838	Rocker bottom foot
OMIM:126050	MYBPC1	4604	HP:0100490	Camptodactyly of finger
OMIM:126050	MYH3	4621	HP:0000006	Autosomal dominant inheritance
OMIM:126050	MYH3	4621	HP:0009465	Ulnar deviation of finger
OMIM:126050	MYH3	4621	HP:0001838	Rocker bottom foot
OMIM:126050	MYH3	4621	HP:0100490	Camptodactyly of finger
OMIM:616106	AP1S3	130340	HP:0008404	Nail dystrophy
OMIM:616106	IL36RN	26525	HP:0008404	Nail dystrophy
ORPHANET:963	AIP	9049	HP:0000080	Abnormality of reproductive system physiology
ORPHANET:963	AIP	9049	HP:0002007	Frontal bossing
ORPHANET:963	AIP	9049	HP:0002104	Apnea
ORPHANET:963	AIP	9049	HP:0003416	Spinal canal stenosis
ORPHANET:963	AIP	9049	HP:0001608	Abnormality of the voice
ORPHANET:963	AIP	9049	HP:0000293	Full cheeks
ORPHANET:963	AIP	9049	HP:0000819	Diabetes mellitus
ORPHANET:963	AIP	9049	HP:0000956	Acanthosis nigricans
ORPHANET:963	AIP	9049	HP:0003401	Paresthesia
ORPHANET:963	AIP	9049	HP:0000975	Hyperhidrosis
ORPHANET:963	AIP	9049	HP:0000708	Behavioral abnormality
ORPHANET:963	AIP	9049	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:963	AIP	9049	HP:0002829	Arthralgia
ORPHANET:963	AIP	9049	HP:0012211	Abnormal renal physiology
ORPHANET:963	AIP	9049	HP:0000157	Abnormality of the tongue
ORPHANET:963	AIP	9049	HP:0001633	Abnormality of the mitral valve
ORPHANET:963	AIP	9049	HP:0002758	Osteoarthritis
ORPHANET:963	AIP	9049	HP:0002076	Migraine
ORPHANET:963	AIP	9049	HP:0007440	Generalized hyperpigmentation
ORPHANET:963	AIP	9049	HP:0000280	Coarse facial features
ORPHANET:963	AIP	9049	HP:0000664	Synophrys
ORPHANET:963	AIP	9049	HP:0008388	Abnormality of the toenails
ORPHANET:963	AIP	9049	HP:0000303	Mandibular prognathia
ORPHANET:963	AIP	9049	HP:0004372	Reduced consciousness/confusion
ORPHANET:963	AIP	9049	HP:0000366	Abnormality of the nose
ORPHANET:963	AIP	9049	HP:0002808	Kyphosis
ORPHANET:963	AIP	9049	HP:0000098	Tall stature
ORPHANET:963	AIP	9049	HP:0000179	Thick lower lip vermilion
ORPHANET:963	AIP	9049	HP:0000830	Anterior hypopituitarism
ORPHANET:963	AIP	9049	HP:0001231	Abnormality of the fingernails
ORPHANET:963	AIP	9049	HP:0000337	Broad forehead
ORPHANET:963	AIP	9049	HP:0001061	Acne
ORPHANET:963	AIP	9049	HP:0000164	Abnormality of the teeth
ORPHANET:963	AIP	9049	HP:0100829	Galactorrhea
ORPHANET:963	AIP	9049	HP:0100568	Neoplasm of the endocrine system
ORPHANET:963	AIP	9049	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:963	AIP	9049	HP:0000822	Hypertension
ORPHANET:963	GPR101	83550	HP:0000080	Abnormality of reproductive system physiology
ORPHANET:963	GPR101	83550	HP:0002007	Frontal bossing
ORPHANET:963	GPR101	83550	HP:0002104	Apnea
ORPHANET:963	GPR101	83550	HP:0003416	Spinal canal stenosis
ORPHANET:963	GPR101	83550	HP:0001608	Abnormality of the voice
ORPHANET:963	GPR101	83550	HP:0000293	Full cheeks
ORPHANET:963	GPR101	83550	HP:0000819	Diabetes mellitus
ORPHANET:963	GPR101	83550	HP:0000956	Acanthosis nigricans
ORPHANET:963	GPR101	83550	HP:0003401	Paresthesia
ORPHANET:963	GPR101	83550	HP:0000975	Hyperhidrosis
ORPHANET:963	GPR101	83550	HP:0000708	Behavioral abnormality
ORPHANET:963	GPR101	83550	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:963	GPR101	83550	HP:0002829	Arthralgia
ORPHANET:963	GPR101	83550	HP:0012211	Abnormal renal physiology
ORPHANET:963	GPR101	83550	HP:0000157	Abnormality of the tongue
ORPHANET:963	GPR101	83550	HP:0001633	Abnormality of the mitral valve
ORPHANET:963	GPR101	83550	HP:0002758	Osteoarthritis
ORPHANET:963	GPR101	83550	HP:0002076	Migraine
ORPHANET:963	GPR101	83550	HP:0007440	Generalized hyperpigmentation
ORPHANET:963	GPR101	83550	HP:0000280	Coarse facial features
ORPHANET:963	GPR101	83550	HP:0000664	Synophrys
ORPHANET:963	GPR101	83550	HP:0008388	Abnormality of the toenails
ORPHANET:963	GPR101	83550	HP:0000303	Mandibular prognathia
ORPHANET:963	GPR101	83550	HP:0004372	Reduced consciousness/confusion
ORPHANET:963	GPR101	83550	HP:0000366	Abnormality of the nose
ORPHANET:963	GPR101	83550	HP:0002808	Kyphosis
ORPHANET:963	GPR101	83550	HP:0000098	Tall stature
ORPHANET:963	GPR101	83550	HP:0000179	Thick lower lip vermilion
ORPHANET:963	GPR101	83550	HP:0000830	Anterior hypopituitarism
ORPHANET:963	GPR101	83550	HP:0001231	Abnormality of the fingernails
ORPHANET:963	GPR101	83550	HP:0000337	Broad forehead
ORPHANET:963	GPR101	83550	HP:0001061	Acne
ORPHANET:963	GPR101	83550	HP:0000164	Abnormality of the teeth
ORPHANET:963	GPR101	83550	HP:0100829	Galactorrhea
ORPHANET:963	GPR101	83550	HP:0100568	Neoplasm of the endocrine system
ORPHANET:963	GPR101	83550	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:963	GPR101	83550	HP:0000822	Hypertension
OMIM:140350	HPD	3242	HP:0002213	Fine hair
OMIM:140350	HPD	3242	HP:0003607	4-Hydroxyphenylacetic aciduria
OMIM:140350	HPD	3242	HP:0000006	Autosomal dominant inheritance
OMIM:140350	HPD	3242	HP:0001942	Metabolic acidosis
OMIM:140350	HPD	3242	HP:0011362	Abnormal hair quantity
OMIM:140350	HPD	3242	HP:0003231	Hypertyrosinemia
OMIM:140350	HPD	3242	HP:0001252	Muscular hypotonia
OMIM:140350	HPD	3242	HP:0000821	Hypothyroidism
OMIM:140350	HPD	3242	HP:0001508	Failure to thrive
OMIM:140350	HPD	3242	HP:0003161	4-Hydroxyphenylpyruvic aciduria
OMIM:615377	GATA4	2626	HP:0001650	Aortic valve stenosis
OMIM:615377	GATA4	2626	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	GATA6	2627	HP:0001650	Aortic valve stenosis
OMIM:615377	GATA6	2627	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	KCNE2	9992	HP:0001650	Aortic valve stenosis
OMIM:615377	KCNE2	9992	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	KCNQ1	3784	HP:0001650	Aortic valve stenosis
OMIM:615377	KCNQ1	3784	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	KCNE1	3753	HP:0001650	Aortic valve stenosis
OMIM:615377	KCNE1	3753	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	NKX2-5	1482	HP:0001650	Aortic valve stenosis
OMIM:615377	NKX2-5	1482	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	ABCC9	10060	HP:0001650	Aortic valve stenosis
OMIM:615377	ABCC9	10060	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	GJA5	2702	HP:0001650	Aortic valve stenosis
OMIM:615377	GJA5	2702	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	NPPA	4878	HP:0001650	Aortic valve stenosis
OMIM:615377	NPPA	4878	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	KCNJ2	3759	HP:0001650	Aortic valve stenosis
OMIM:615377	KCNJ2	3759	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	SCN1B	6324	HP:0001650	Aortic valve stenosis
OMIM:615377	SCN1B	6324	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	NKX2-6	137814	HP:0001650	Aortic valve stenosis
OMIM:615377	NKX2-6	137814	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	GATA5	140628	HP:0001650	Aortic valve stenosis
OMIM:615377	GATA5	140628	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	SCN2B	6327	HP:0001650	Aortic valve stenosis
OMIM:615377	SCN2B	6327	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	SCN3B	55800	HP:0001650	Aortic valve stenosis
OMIM:615377	SCN3B	55800	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	SCN4B	6330	HP:0001650	Aortic valve stenosis
OMIM:615377	SCN4B	6330	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	SCN5A	6331	HP:0001650	Aortic valve stenosis
OMIM:615377	SCN5A	6331	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	PITX2	5308	HP:0001650	Aortic valve stenosis
OMIM:615377	PITX2	5308	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	KCNA5	3741	HP:0001650	Aortic valve stenosis
OMIM:615377	KCNA5	3741	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615377	NUP155	9631	HP:0001650	Aortic valve stenosis
OMIM:615377	NUP155	9631	HP:0004757	Paroxysmal atrial fibrillation
OMIM:601544	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:601544	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:601544	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:601544	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:601544	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:601544	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:601544	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:601544	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:601544	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:601544	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:601544	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:601544	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601544	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:601544	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:601544	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:601544	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:601544	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:601544	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:601544	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:601544	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:601544	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:601544	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:601544	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:601544	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:601544	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:601544	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:601544	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:601544	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:601544	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:601544	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:601544	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:601544	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:601544	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:601544	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:601544	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:601544	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:601544	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:601544	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:601544	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:601544	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:601544	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:601544	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:601544	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:601544	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:601544	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:601544	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:601544	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:601544	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:601544	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:601544	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:601544	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:601544	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:601544	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:601544	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:601544	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:601544	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:601544	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:601544	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:601544	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:601544	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:601544	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:601544	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:601544	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:601544	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:601544	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:601544	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:601544	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:601544	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:601544	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:601544	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:200950	ACP2	53	HP:0002013	Vomiting
OMIM:200950	ACP2	53	HP:0000007	Autosomal recessive inheritance
OMIM:200950	ACP2	53	HP:0002179	Opisthotonus
OMIM:200950	ACP2	53	HP:0001252	Muscular hypotonia
OMIM:200950	ACP2	53	HP:0001892	Abnormal bleeding
OMIM:300436	ZNF711	7552	HP:0000407	Sensorineural hearing impairment
OMIM:300436	ZNF711	7552	HP:0001419	X-linked recessive inheritance
OMIM:300436	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300436	IL1RAPL1	11141	HP:0000407	Sensorineural hearing impairment
OMIM:300436	IL1RAPL1	11141	HP:0001419	X-linked recessive inheritance
OMIM:300436	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300436	ACSL4	2182	HP:0000407	Sensorineural hearing impairment
OMIM:300436	ACSL4	2182	HP:0001419	X-linked recessive inheritance
OMIM:300436	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300436	PAK3	5063	HP:0000407	Sensorineural hearing impairment
OMIM:300436	PAK3	5063	HP:0001419	X-linked recessive inheritance
OMIM:300436	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300436	SYP	6855	HP:0000407	Sensorineural hearing impairment
OMIM:300436	SYP	6855	HP:0001419	X-linked recessive inheritance
OMIM:300436	SYP	6855	HP:0001249	Intellectual disability
OMIM:300436	FTSJ1	24140	HP:0000407	Sensorineural hearing impairment
OMIM:300436	FTSJ1	24140	HP:0001419	X-linked recessive inheritance
OMIM:300436	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300436	DLG3	1741	HP:0000407	Sensorineural hearing impairment
OMIM:300436	DLG3	1741	HP:0001419	X-linked recessive inheritance
OMIM:300436	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300436	PTCHD1	139411	HP:0000407	Sensorineural hearing impairment
OMIM:300436	PTCHD1	139411	HP:0001419	X-linked recessive inheritance
OMIM:300436	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300436	UPF3B	65109	HP:0000407	Sensorineural hearing impairment
OMIM:300436	UPF3B	65109	HP:0001419	X-linked recessive inheritance
OMIM:300436	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300436	ZNF81	347344	HP:0000407	Sensorineural hearing impairment
OMIM:300436	ZNF81	347344	HP:0001419	X-linked recessive inheritance
OMIM:300436	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300436	RAB39B	116442	HP:0000407	Sensorineural hearing impairment
OMIM:300436	RAB39B	116442	HP:0001419	X-linked recessive inheritance
OMIM:300436	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300436	DMD	1756	HP:0000407	Sensorineural hearing impairment
OMIM:300436	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:300436	DMD	1756	HP:0001249	Intellectual disability
OMIM:300436	MAGT1	84061	HP:0000407	Sensorineural hearing impairment
OMIM:300436	MAGT1	84061	HP:0001419	X-linked recessive inheritance
OMIM:300436	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300436	MID2	11043	HP:0000407	Sensorineural hearing impairment
OMIM:300436	MID2	11043	HP:0001419	X-linked recessive inheritance
OMIM:300436	MID2	11043	HP:0001249	Intellectual disability
OMIM:300436	GDI1	2664	HP:0000407	Sensorineural hearing impairment
OMIM:300436	GDI1	2664	HP:0001419	X-linked recessive inheritance
OMIM:300436	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300436	ZNF41	7592	HP:0000407	Sensorineural hearing impairment
OMIM:300436	ZNF41	7592	HP:0001419	X-linked recessive inheritance
OMIM:300436	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300436	MECP2	4204	HP:0000407	Sensorineural hearing impairment
OMIM:300436	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300436	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300436	HCFC1	3054	HP:0000407	Sensorineural hearing impairment
OMIM:300436	HCFC1	3054	HP:0001419	X-linked recessive inheritance
OMIM:300436	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300436	USP9X	8239	HP:0000407	Sensorineural hearing impairment
OMIM:300436	USP9X	8239	HP:0001419	X-linked recessive inheritance
OMIM:300436	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300436	MED12	9968	HP:0000407	Sensorineural hearing impairment
OMIM:300436	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:300436	MED12	9968	HP:0001249	Intellectual disability
OMIM:300436	ZNF674	641339	HP:0000407	Sensorineural hearing impairment
OMIM:300436	ZNF674	641339	HP:0001419	X-linked recessive inheritance
OMIM:300436	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300436	ARHGEF6	9459	HP:0000407	Sensorineural hearing impairment
OMIM:300436	ARHGEF6	9459	HP:0001419	X-linked recessive inheritance
OMIM:300436	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300436	RPS6KA3	6197	HP:0000407	Sensorineural hearing impairment
OMIM:300436	RPS6KA3	6197	HP:0001419	X-linked recessive inheritance
OMIM:300436	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300436	IQSEC2	23096	HP:0000407	Sensorineural hearing impairment
OMIM:300436	IQSEC2	23096	HP:0001419	X-linked recessive inheritance
OMIM:300436	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300436	AGTR2	186	HP:0000407	Sensorineural hearing impairment
OMIM:300436	AGTR2	186	HP:0001419	X-linked recessive inheritance
OMIM:300436	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300436	ARX	170302	HP:0000407	Sensorineural hearing impairment
OMIM:300436	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:300436	ARX	170302	HP:0001249	Intellectual disability
OMIM:300436	ALG13	79868	HP:0000407	Sensorineural hearing impairment
OMIM:300436	ALG13	79868	HP:0001419	X-linked recessive inheritance
OMIM:300436	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300436	TSPAN7	7102	HP:0000407	Sensorineural hearing impairment
OMIM:300436	TSPAN7	7102	HP:0001419	X-linked recessive inheritance
OMIM:300436	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:269840	ZAP70	7535	HP:0000976	Eczematoid dermatitis
OMIM:269840	ZAP70	7535	HP:0001744	Splenomegaly
OMIM:269840	ZAP70	7535	HP:0003139	Panhypogammaglobulinemia
OMIM:269840	ZAP70	7535	HP:0001508	Failure to thrive
OMIM:269840	ZAP70	7535	HP:0002014	Diarrhea
OMIM:269840	ZAP70	7535	HP:0002090	Pneumonia
OMIM:269840	ZAP70	7535	HP:0002240	Hepatomegaly
OMIM:269840	ZAP70	7535	HP:0000007	Autosomal recessive inheritance
OMIM:615984	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615984	MKKS	8195	HP:0001513	Obesity
OMIM:615984	MKKS	8195	HP:0010442	Polydactyly
OMIM:615984	MKKS	8195	HP:0001249	Intellectual disability
OMIM:615984	MKKS	8195	HP:0003241	External genital hypoplasia
OMIM:615984	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615984	NPHP1	4867	HP:0001513	Obesity
OMIM:615984	NPHP1	4867	HP:0010442	Polydactyly
OMIM:615984	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:615984	NPHP1	4867	HP:0003241	External genital hypoplasia
OMIM:615984	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615984	BBIP1	92482	HP:0001513	Obesity
OMIM:615984	BBIP1	92482	HP:0010442	Polydactyly
OMIM:615984	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:615984	BBIP1	92482	HP:0003241	External genital hypoplasia
OMIM:615984	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615984	ARL6	84100	HP:0001513	Obesity
OMIM:615984	ARL6	84100	HP:0010442	Polydactyly
OMIM:615984	ARL6	84100	HP:0001249	Intellectual disability
OMIM:615984	ARL6	84100	HP:0003241	External genital hypoplasia
OMIM:615984	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615984	BBS1	582	HP:0001513	Obesity
OMIM:615984	BBS1	582	HP:0010442	Polydactyly
OMIM:615984	BBS1	582	HP:0001249	Intellectual disability
OMIM:615984	BBS1	582	HP:0003241	External genital hypoplasia
OMIM:615984	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615984	BBS2	583	HP:0001513	Obesity
OMIM:615984	BBS2	583	HP:0010442	Polydactyly
OMIM:615984	BBS2	583	HP:0001249	Intellectual disability
OMIM:615984	BBS2	583	HP:0003241	External genital hypoplasia
OMIM:615984	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615984	BBS4	585	HP:0001513	Obesity
OMIM:615984	BBS4	585	HP:0010442	Polydactyly
OMIM:615984	BBS4	585	HP:0001249	Intellectual disability
OMIM:615984	BBS4	585	HP:0003241	External genital hypoplasia
OMIM:615984	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615984	BBS9	27241	HP:0001513	Obesity
OMIM:615984	BBS9	27241	HP:0010442	Polydactyly
OMIM:615984	BBS9	27241	HP:0001249	Intellectual disability
OMIM:615984	BBS9	27241	HP:0003241	External genital hypoplasia
OMIM:615984	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615984	TTC8	123016	HP:0001513	Obesity
OMIM:615984	TTC8	123016	HP:0010442	Polydactyly
OMIM:615984	TTC8	123016	HP:0001249	Intellectual disability
OMIM:615984	TTC8	123016	HP:0003241	External genital hypoplasia
OMIM:615984	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615984	BBS12	166379	HP:0001513	Obesity
OMIM:615984	BBS12	166379	HP:0010442	Polydactyly
OMIM:615984	BBS12	166379	HP:0001249	Intellectual disability
OMIM:615984	BBS12	166379	HP:0003241	External genital hypoplasia
OMIM:615984	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615984	TRIM32	22954	HP:0001513	Obesity
OMIM:615984	TRIM32	22954	HP:0010442	Polydactyly
OMIM:615984	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:615984	TRIM32	22954	HP:0003241	External genital hypoplasia
OMIM:615984	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615984	BBS7	55212	HP:0001513	Obesity
OMIM:615984	BBS7	55212	HP:0010442	Polydactyly
OMIM:615984	BBS7	55212	HP:0001249	Intellectual disability
OMIM:615984	BBS7	55212	HP:0003241	External genital hypoplasia
OMIM:615984	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615984	IFT27	11020	HP:0001513	Obesity
OMIM:615984	IFT27	11020	HP:0010442	Polydactyly
OMIM:615984	IFT27	11020	HP:0001249	Intellectual disability
OMIM:615984	IFT27	11020	HP:0003241	External genital hypoplasia
OMIM:615984	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615984	IFT172	26160	HP:0001513	Obesity
OMIM:615984	IFT172	26160	HP:0010442	Polydactyly
OMIM:615984	IFT172	26160	HP:0001249	Intellectual disability
OMIM:615984	IFT172	26160	HP:0003241	External genital hypoplasia
OMIM:615984	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615984	WDPCP	51057	HP:0001513	Obesity
OMIM:615984	WDPCP	51057	HP:0010442	Polydactyly
OMIM:615984	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:615984	WDPCP	51057	HP:0003241	External genital hypoplasia
OMIM:615984	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615984	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615984	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:615984	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:615984	SDCCAG8	10806	HP:0003241	External genital hypoplasia
OMIM:615984	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615984	MKS1	54903	HP:0001513	Obesity
OMIM:615984	MKS1	54903	HP:0010442	Polydactyly
OMIM:615984	MKS1	54903	HP:0001249	Intellectual disability
OMIM:615984	MKS1	54903	HP:0003241	External genital hypoplasia
OMIM:615984	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615984	BBS5	129880	HP:0001513	Obesity
OMIM:615984	BBS5	129880	HP:0010442	Polydactyly
OMIM:615984	BBS5	129880	HP:0001249	Intellectual disability
OMIM:615984	BBS5	129880	HP:0003241	External genital hypoplasia
OMIM:615984	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615984	CEP290	80184	HP:0001513	Obesity
OMIM:615984	CEP290	80184	HP:0010442	Polydactyly
OMIM:615984	CEP290	80184	HP:0001249	Intellectual disability
OMIM:615984	CEP290	80184	HP:0003241	External genital hypoplasia
OMIM:615984	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615984	LZTFL1	54585	HP:0001513	Obesity
OMIM:615984	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:615984	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:615984	LZTFL1	54585	HP:0003241	External genital hypoplasia
OMIM:615984	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615984	BBS10	79738	HP:0001513	Obesity
OMIM:615984	BBS10	79738	HP:0010442	Polydactyly
OMIM:615984	BBS10	79738	HP:0001249	Intellectual disability
OMIM:615984	BBS10	79738	HP:0003241	External genital hypoplasia
OMIM:613370	CEL	1056	HP:0000006	Autosomal dominant inheritance
OMIM:613370	BLK	640	HP:0000006	Autosomal dominant inheritance
OMIM:613370	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:613370	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:613370	APPL1	26060	HP:0000006	Autosomal dominant inheritance
OMIM:613370	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:613370	KLF11	8462	HP:0000006	Autosomal dominant inheritance
OMIM:613370	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:613370	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:613370	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:613370	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:613370	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:613370	NEUROD1	4760	HP:0000006	Autosomal dominant inheritance
OMIM:123700	FBLN5	10516	HP:0007495	Prematurely aged appearance
OMIM:123700	FBLN5	10516	HP:0000023	Inguinal hernia
OMIM:123700	FBLN5	10516	HP:0001659	Aortic regurgitation
OMIM:123700	FBLN5	10516	HP:0000271	Abnormality of the face
OMIM:123700	FBLN5	10516	HP:0002097	Emphysema
OMIM:123700	FBLN5	10516	HP:0001582	Redundant skin
OMIM:123700	FBLN5	10516	HP:0000006	Autosomal dominant inheritance
OMIM:123700	FBLN5	10516	HP:0001653	Mitral regurgitation
OMIM:123700	FBLN5	10516	HP:0001425	Heterogeneous
OMIM:123700	ELN	2006	HP:0007495	Prematurely aged appearance
OMIM:123700	ELN	2006	HP:0000023	Inguinal hernia
OMIM:123700	ELN	2006	HP:0001659	Aortic regurgitation
OMIM:123700	ELN	2006	HP:0000271	Abnormality of the face
OMIM:123700	ELN	2006	HP:0002097	Emphysema
OMIM:123700	ELN	2006	HP:0001582	Redundant skin
OMIM:123700	ELN	2006	HP:0000006	Autosomal dominant inheritance
OMIM:123700	ELN	2006	HP:0001653	Mitral regurgitation
OMIM:123700	ELN	2006	HP:0001425	Heterogeneous
OMIM:123700	ALDH18A1	5832	HP:0007495	Prematurely aged appearance
OMIM:123700	ALDH18A1	5832	HP:0000023	Inguinal hernia
OMIM:123700	ALDH18A1	5832	HP:0001659	Aortic regurgitation
OMIM:123700	ALDH18A1	5832	HP:0000271	Abnormality of the face
OMIM:123700	ALDH18A1	5832	HP:0002097	Emphysema
OMIM:123700	ALDH18A1	5832	HP:0001582	Redundant skin
OMIM:123700	ALDH18A1	5832	HP:0000006	Autosomal dominant inheritance
OMIM:123700	ALDH18A1	5832	HP:0001653	Mitral regurgitation
OMIM:123700	ALDH18A1	5832	HP:0001425	Heterogeneous
OMIM:615035	C12ORF65	91574	HP:0002355	Difficulty walking
OMIM:615035	C12ORF65	91574	HP:0003477	Peripheral axonal neuropathy
OMIM:615035	C12ORF65	91574	HP:0000603	Central scotoma
OMIM:615035	C12ORF65	91574	HP:0001263	Global developmental delay
OMIM:615035	C12ORF65	91574	HP:0001249	Intellectual disability
OMIM:615035	C12ORF65	91574	HP:0000505	Visual impairment
OMIM:615035	C12ORF65	91574	HP:0003828	Variable expressivity
OMIM:615035	C12ORF65	91574	HP:0000007	Autosomal recessive inheritance
OMIM:615035	C12ORF65	91574	HP:0001762	Talipes equinovarus
OMIM:615035	C12ORF65	91574	HP:0003487	Babinski sign
OMIM:615035	C12ORF65	91574	HP:0002936	Distal sensory impairment
OMIM:615035	C12ORF65	91574	HP:0003383	Onion bulb formation
OMIM:615035	C12ORF65	91574	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615035	C12ORF65	91574	HP:0000639	Nystagmus
OMIM:615035	C12ORF65	91574	HP:0002169	Clonus
OMIM:615035	C12ORF65	91574	HP:0003376	Steppage gait
OMIM:615035	C12ORF65	91574	HP:0000648	Optic atrophy
OMIM:615035	C12ORF65	91574	HP:0100543	Cognitive impairment
OMIM:615035	C12ORF65	91574	HP:0000486	Strabismus
OMIM:615035	C12ORF65	91574	HP:0007663	Reduced visual acuity
OMIM:615035	C12ORF65	91574	HP:0001258	Spastic paraplegia
OMIM:218000	SLC12A6	9990	HP:0000007	Autosomal recessive inheritance
OMIM:218000	SLC12A6	9990	HP:0003690	Limb muscle weakness
OMIM:218000	SLC12A6	9990	HP:0001182	Tapered finger
OMIM:218000	SLC12A6	9990	HP:0002650	Scoliosis
OMIM:218000	SLC12A6	9990	HP:0003196	Short nose
OMIM:218000	SLC12A6	9990	HP:0001363	Craniosynostosis
OMIM:218000	SLC12A6	9990	HP:0003444	EMG: chronic denervation signs
OMIM:218000	SLC12A6	9990	HP:0001271	Polyneuropathy
OMIM:218000	SLC12A6	9990	HP:0001290	Generalized hypotonia
OMIM:218000	SLC12A6	9990	HP:0003383	Onion bulb formation
OMIM:218000	SLC12A6	9990	HP:0004374	Hemiplegia/hemiparesis
OMIM:218000	SLC12A6	9990	HP:0001263	Global developmental delay
OMIM:218000	SLC12A6	9990	HP:0000486	Strabismus
OMIM:218000	SLC12A6	9990	HP:0001249	Intellectual disability
OMIM:218000	SLC12A6	9990	HP:0000545	Myopia
OMIM:218000	SLC12A6	9990	HP:0000709	Psychosis
OMIM:218000	SLC12A6	9990	HP:0001270	Motor delay
OMIM:218000	SLC12A6	9990	HP:0000639	Nystagmus
OMIM:218000	SLC12A6	9990	HP:0001371	Flexion contracture
OMIM:218000	SLC12A6	9990	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:218000	SLC12A6	9990	HP:0000431	Wide nasal bridge
OMIM:218000	SLC12A6	9990	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:218000	SLC12A6	9990	HP:0001284	Areflexia
OMIM:218000	SLC12A6	9990	HP:0007703	Abnormality of retinal pigmentation
OMIM:218000	SLC12A6	9990	HP:0003202	Skeletal muscle atrophy
OMIM:218000	SLC12A6	9990	HP:0000276	Long face
OMIM:218000	SLC12A6	9990	HP:0011947	Respiratory tract infection
OMIM:218000	SLC12A6	9990	HP:0003477	Peripheral axonal neuropathy
OMIM:218000	SLC12A6	9990	HP:0000252	Microcephaly
OMIM:218000	SLC12A6	9990	HP:0001250	Seizures
OMIM:218000	SLC12A6	9990	HP:0001274	Agenesis of corpus callosum
OMIM:218000	SLC12A6	9990	HP:0100543	Cognitive impairment
OMIM:218000	SLC12A6	9990	HP:0000316	Hypertelorism
OMIM:218000	SLC12A6	9990	HP:0000763	Sensory neuropathy
OMIM:218000	SLC12A6	9990	HP:0002353	EEG abnormality
OMIM:218000	SLC12A6	9990	HP:0000324	Facial asymmetry
OMIM:218000	SLC12A6	9990	HP:0001319	Neonatal hypotonia
OMIM:218000	SLC12A6	9990	HP:0004691	2-3 toe syndactyly
OMIM:218000	SLC12A6	9990	HP:0000248	Brachycephaly
OMIM:218000	SLC12A6	9990	HP:0003431	Decreased motor nerve conduction velocity
OMIM:218000	SLC12A6	9990	HP:0007178	Motor polyneuropathy
OMIM:218000	SLC12A6	9990	HP:0000218	High palate
OMIM:218000	SLC12A6	9990	HP:0000294	Low anterior hairline
OMIM:218000	SLC12A6	9990	HP:0002922	Increased CSF protein
OMIM:218000	SLC12A6	9990	HP:0003676	Progressive
OMIM:218000	SLC12A6	9990	HP:0000341	Narrow forehead
OMIM:218000	SLC12A6	9990	HP:0000400	Macrotia
OMIM:218000	SLC12A6	9990	HP:0002119	Ventriculomegaly
OMIM:218000	SLC12A6	9990	HP:0000508	Ptosis
OMIM:218000	SLC12A6	9990	HP:0000327	Hypoplasia of the maxilla
OMIM:610758	ERCC1	2067	HP:0001263	Global developmental delay
OMIM:610758	ERCC1	2067	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610758	ERCC1	2067	HP:0000322	Short philtrum
OMIM:610758	ERCC1	2067	HP:0001511	Intrauterine growth retardation
OMIM:610758	ERCC1	2067	HP:0002827	Hip dislocation
OMIM:610758	ERCC1	2067	HP:0003083	Dislocated radial head
OMIM:610758	ERCC1	2067	HP:0002126	Polymicrogyria
OMIM:610758	ERCC1	2067	HP:0000490	Deeply set eye
OMIM:610758	ERCC1	2067	HP:0002353	EEG abnormality
OMIM:610758	ERCC1	2067	HP:0000347	Micrognathia
OMIM:610758	ERCC1	2067	HP:0000581	Blepharophimosis
OMIM:610758	ERCC1	2067	HP:0003100	Slender long bone
OMIM:610758	ERCC1	2067	HP:0000252	Microcephaly
OMIM:610758	ERCC1	2067	HP:0001531	Failure to thrive in infancy
OMIM:610758	ERCC1	2067	HP:0001838	Rocker bottom foot
OMIM:610758	ERCC1	2067	HP:0002751	Kyphoscoliosis
OMIM:610758	ERCC1	2067	HP:0100490	Camptodactyly of finger
OMIM:610758	ERCC1	2067	HP:0000007	Autosomal recessive inheritance
OMIM:610758	ERCC1	2067	HP:0001181	Adducted thumb
OMIM:610758	ERCC1	2067	HP:0001276	Hypertonia
OMIM:610758	ERCC1	2067	HP:0001347	Hyperreflexia
OMIM:610758	ERCC1	2067	HP:0004322	Short stature
OMIM:610758	ERCC1	2067	HP:0003577	Congenital onset
OMIM:610758	ERCC1	2067	HP:0002804	Arthrogryposis multiplex congenita
OMIM:610758	ERCC1	2067	HP:0001321	Cerebellar hypoplasia
OMIM:610758	ERCC1	2067	HP:0003015	Flared metaphysis
OMIM:610758	ERCC1	2067	HP:0000426	Prominent nasal bridge
OMIM:610758	ERCC1	2067	HP:0009879	Cortical gyral simplification
OMIM:610758	ERCC1	2067	HP:0000639	Nystagmus
OMIM:610758	ERCC1	2067	HP:0003828	Variable expressivity
OMIM:610758	ERCC2	2068	HP:0001263	Global developmental delay
OMIM:610758	ERCC2	2068	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610758	ERCC2	2068	HP:0000322	Short philtrum
OMIM:610758	ERCC2	2068	HP:0001511	Intrauterine growth retardation
OMIM:610758	ERCC2	2068	HP:0002827	Hip dislocation
OMIM:610758	ERCC2	2068	HP:0003083	Dislocated radial head
OMIM:610758	ERCC2	2068	HP:0002126	Polymicrogyria
OMIM:610758	ERCC2	2068	HP:0000490	Deeply set eye
OMIM:610758	ERCC2	2068	HP:0002353	EEG abnormality
OMIM:610758	ERCC2	2068	HP:0000347	Micrognathia
OMIM:610758	ERCC2	2068	HP:0000581	Blepharophimosis
OMIM:610758	ERCC2	2068	HP:0003100	Slender long bone
OMIM:610758	ERCC2	2068	HP:0000252	Microcephaly
OMIM:610758	ERCC2	2068	HP:0001531	Failure to thrive in infancy
OMIM:610758	ERCC2	2068	HP:0001838	Rocker bottom foot
OMIM:610758	ERCC2	2068	HP:0002751	Kyphoscoliosis
OMIM:610758	ERCC2	2068	HP:0100490	Camptodactyly of finger
OMIM:610758	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:610758	ERCC2	2068	HP:0001181	Adducted thumb
OMIM:610758	ERCC2	2068	HP:0001276	Hypertonia
OMIM:610758	ERCC2	2068	HP:0001347	Hyperreflexia
OMIM:610758	ERCC2	2068	HP:0004322	Short stature
OMIM:610758	ERCC2	2068	HP:0003577	Congenital onset
OMIM:610758	ERCC2	2068	HP:0002804	Arthrogryposis multiplex congenita
OMIM:610758	ERCC2	2068	HP:0001321	Cerebellar hypoplasia
OMIM:610758	ERCC2	2068	HP:0003015	Flared metaphysis
OMIM:610758	ERCC2	2068	HP:0000426	Prominent nasal bridge
OMIM:610758	ERCC2	2068	HP:0009879	Cortical gyral simplification
OMIM:610758	ERCC2	2068	HP:0000639	Nystagmus
OMIM:610758	ERCC2	2068	HP:0003828	Variable expressivity
OMIM:610758	ERCC5	2073	HP:0001263	Global developmental delay
OMIM:610758	ERCC5	2073	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610758	ERCC5	2073	HP:0000322	Short philtrum
OMIM:610758	ERCC5	2073	HP:0001511	Intrauterine growth retardation
OMIM:610758	ERCC5	2073	HP:0002827	Hip dislocation
OMIM:610758	ERCC5	2073	HP:0003083	Dislocated radial head
OMIM:610758	ERCC5	2073	HP:0002126	Polymicrogyria
OMIM:610758	ERCC5	2073	HP:0000490	Deeply set eye
OMIM:610758	ERCC5	2073	HP:0002353	EEG abnormality
OMIM:610758	ERCC5	2073	HP:0000347	Micrognathia
OMIM:610758	ERCC5	2073	HP:0000581	Blepharophimosis
OMIM:610758	ERCC5	2073	HP:0003100	Slender long bone
OMIM:610758	ERCC5	2073	HP:0000252	Microcephaly
OMIM:610758	ERCC5	2073	HP:0001531	Failure to thrive in infancy
OMIM:610758	ERCC5	2073	HP:0001838	Rocker bottom foot
OMIM:610758	ERCC5	2073	HP:0002751	Kyphoscoliosis
OMIM:610758	ERCC5	2073	HP:0100490	Camptodactyly of finger
OMIM:610758	ERCC5	2073	HP:0000007	Autosomal recessive inheritance
OMIM:610758	ERCC5	2073	HP:0001181	Adducted thumb
OMIM:610758	ERCC5	2073	HP:0001276	Hypertonia
OMIM:610758	ERCC5	2073	HP:0001347	Hyperreflexia
OMIM:610758	ERCC5	2073	HP:0004322	Short stature
OMIM:610758	ERCC5	2073	HP:0003577	Congenital onset
OMIM:610758	ERCC5	2073	HP:0002804	Arthrogryposis multiplex congenita
OMIM:610758	ERCC5	2073	HP:0001321	Cerebellar hypoplasia
OMIM:610758	ERCC5	2073	HP:0003015	Flared metaphysis
OMIM:610758	ERCC5	2073	HP:0000426	Prominent nasal bridge
OMIM:610758	ERCC5	2073	HP:0009879	Cortical gyral simplification
OMIM:610758	ERCC5	2073	HP:0000639	Nystagmus
OMIM:610758	ERCC5	2073	HP:0003828	Variable expressivity
OMIM:610758	ERCC6	2074	HP:0001263	Global developmental delay
OMIM:610758	ERCC6	2074	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610758	ERCC6	2074	HP:0000322	Short philtrum
OMIM:610758	ERCC6	2074	HP:0001511	Intrauterine growth retardation
OMIM:610758	ERCC6	2074	HP:0002827	Hip dislocation
OMIM:610758	ERCC6	2074	HP:0003083	Dislocated radial head
OMIM:610758	ERCC6	2074	HP:0002126	Polymicrogyria
OMIM:610758	ERCC6	2074	HP:0000490	Deeply set eye
OMIM:610758	ERCC6	2074	HP:0002353	EEG abnormality
OMIM:610758	ERCC6	2074	HP:0000347	Micrognathia
OMIM:610758	ERCC6	2074	HP:0000581	Blepharophimosis
OMIM:610758	ERCC6	2074	HP:0003100	Slender long bone
OMIM:610758	ERCC6	2074	HP:0000252	Microcephaly
OMIM:610758	ERCC6	2074	HP:0001531	Failure to thrive in infancy
OMIM:610758	ERCC6	2074	HP:0001838	Rocker bottom foot
OMIM:610758	ERCC6	2074	HP:0002751	Kyphoscoliosis
OMIM:610758	ERCC6	2074	HP:0100490	Camptodactyly of finger
OMIM:610758	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:610758	ERCC6	2074	HP:0001181	Adducted thumb
OMIM:610758	ERCC6	2074	HP:0001276	Hypertonia
OMIM:610758	ERCC6	2074	HP:0001347	Hyperreflexia
OMIM:610758	ERCC6	2074	HP:0004322	Short stature
OMIM:610758	ERCC6	2074	HP:0003577	Congenital onset
OMIM:610758	ERCC6	2074	HP:0002804	Arthrogryposis multiplex congenita
OMIM:610758	ERCC6	2074	HP:0001321	Cerebellar hypoplasia
OMIM:610758	ERCC6	2074	HP:0003015	Flared metaphysis
OMIM:610758	ERCC6	2074	HP:0000426	Prominent nasal bridge
OMIM:610758	ERCC6	2074	HP:0009879	Cortical gyral simplification
OMIM:610758	ERCC6	2074	HP:0000639	Nystagmus
OMIM:610758	ERCC6	2074	HP:0003828	Variable expressivity
OMIM:248450	FREM1	158326	HP:0008050	Abnormality of the palpebral fissures
OMIM:248450	FREM1	158326	HP:0001595	Abnormality of the hair
OMIM:248450	FREM1	158326	HP:0000316	Hypertelorism
OMIM:248450	FREM1	158326	HP:0000625	Cleft eyelid
OMIM:248450	FREM1	158326	HP:0002025	Anal stenosis
OMIM:248450	FREM1	158326	HP:0000007	Autosomal recessive inheritance
OMIM:248450	FREM1	158326	HP:0004122	Midline defect of the nose
OMIM:248450	FREM1	158326	HP:0000568	Microphthalmia
OMIM:248450	FREM1	158326	HP:0000632	Lacrimation abnormality
OMIM:248450	FREM1	158326	HP:0000528	Anophthalmia
OMIM:248450	FREM1	158326	HP:0001539	Omphalocele
OMIM:248450	FREM1	158326	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:84090	FN1	2335	HP:0002170	Intracranial hemorrhage
ORPHANET:84090	FN1	2335	HP:0000093	Proteinuria
ORPHANET:84090	FN1	2335	HP:0000083	Renal insufficiency
ORPHANET:84090	FN1	2335	HP:0000100	Nephrotic syndrome
ORPHANET:84090	FN1	2335	HP:0000790	Hematuria
ORPHANET:84090	FN1	2335	HP:0000822	Hypertension
OMIM:614527	HNF1B	6928	HP:0001792	Small nail
OMIM:614527	HNF1B	6928	HP:0000347	Micrognathia
OMIM:614527	HNF1B	6928	HP:0008678	Renal hypoplasia/aplasia
OMIM:614527	HNF1B	6928	HP:0000218	High palate
OMIM:614527	HNF1B	6928	HP:0004322	Short stature
OMIM:614527	HNF1B	6928	HP:0002007	Frontal bossing
OMIM:614527	HNF1B	6928	HP:0000122	Unilateral renal agenesis
OMIM:614527	HNF1B	6928	HP:0000540	Hypermetropia
OMIM:614527	HNF1B	6928	HP:0000049	Shawl scrotum
OMIM:614527	HNF1B	6928	HP:0000998	Hypertrichosis
OMIM:614527	HNF1B	6928	HP:0000010	Recurrent urinary tract infections
OMIM:614527	HNF1B	6928	HP:0000089	Renal hypoplasia
OMIM:614527	HNF1B	6928	HP:0000348	High forehead
OMIM:614527	HNF1B	6928	HP:0000028	Cryptorchidism
OMIM:614527	HNF1B	6928	HP:0000365	Hearing impairment
OMIM:614527	HNF1B	6928	HP:0000286	Epicanthus
OMIM:614527	HNF1B	6928	HP:0000138	Ovarian cyst
OMIM:614527	HNF1B	6928	HP:0001562	Oligohydramnios
OMIM:614527	HNF1B	6928	HP:0000717	Autism
OMIM:614527	HNF1B	6928	HP:0009824	Upper limb undergrowth
OMIM:614527	HNF1B	6928	HP:0000069	Abnormality of the ureter
OMIM:614527	HNF1B	6928	HP:0000083	Renal insufficiency
OMIM:614527	HNF1B	6928	HP:0000535	Sparse eyebrow
OMIM:614527	HNF1B	6928	HP:0004279	Short palm
OMIM:614527	HNF1B	6928	HP:0005280	Depressed nasal bridge
OMIM:614527	HNF1B	6928	HP:0002553	Highly arched eyebrow
OMIM:614527	HNF1B	6928	HP:0000151	Aplasia of the uterus
OMIM:614527	HNF1B	6928	HP:0000411	Protruding ear
OMIM:614527	HNF1B	6928	HP:0002910	Elevated hepatic transaminases
OMIM:614527	HNF1B	6928	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:614527	HNF1B	6928	HP:0003774	Stage 5 chronic kidney disease
OMIM:614527	HNF1B	6928	HP:0000278	Retrognathia
OMIM:614527	HNF1B	6928	HP:0000819	Diabetes mellitus
OMIM:614527	HNF1B	6928	HP:0001249	Intellectual disability
OMIM:614527	HNF1B	6928	HP:0000324	Facial asymmetry
OMIM:614527	HNF1B	6928	HP:0100543	Cognitive impairment
OMIM:614527	HNF1B	6928	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:614527	HNF1B	6928	HP:0000177	Abnormality of upper lip
OMIM:614527	HNF1B	6928	HP:0010511	Long toe
OMIM:614527	HNF1B	6928	HP:0100807	Long fingers
OMIM:614527	HNF1B	6928	HP:0000494	Downslanted palpebral fissures
OMIM:614527	HNF1B	6928	HP:0002650	Scoliosis
OMIM:614527	HNF1B	6928	HP:0008661	Urethral stenosis
OMIM:614527	HNF1B	6928	HP:0100753	Schizophrenia
OMIM:614527	HNF1B	6928	HP:0000003	Multicystic kidney dysplasia
OMIM:614527	HNF1B	6928	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:614527	HNF1B	6928	HP:0001679	Abnormality of the aorta
OMIM:614527	HNF1B	6928	HP:0000272	Malar flattening
OMIM:614527	HNF1B	6928	HP:0001250	Seizures
OMIM:614527	HNF1B	6928	HP:0002120	Cerebral cortical atrophy
OMIM:614527	HNF1B	6928	HP:0000303	Mandibular prognathia
OMIM:614527	HNF1B	6928	HP:0002167	Neurological speech impairment
OMIM:614527	HNF1B	6928	HP:0000006	Autosomal dominant inheritance
OMIM:614527	HNF1B	6928	HP:0000126	Hydronephrosis
OMIM:614527	HNF1B	6928	HP:0001773	Short foot
OMIM:614527	HNF1B	6928	HP:0000750	Delayed speech and language development
OMIM:614527	HNF1B	6928	HP:0008404	Nail dystrophy
OMIM:614527	LHX1	3975	HP:0001792	Small nail
OMIM:614527	LHX1	3975	HP:0000347	Micrognathia
OMIM:614527	LHX1	3975	HP:0008678	Renal hypoplasia/aplasia
OMIM:614527	LHX1	3975	HP:0000218	High palate
OMIM:614527	LHX1	3975	HP:0004322	Short stature
OMIM:614527	LHX1	3975	HP:0002007	Frontal bossing
OMIM:614527	LHX1	3975	HP:0000122	Unilateral renal agenesis
OMIM:614527	LHX1	3975	HP:0000540	Hypermetropia
OMIM:614527	LHX1	3975	HP:0000049	Shawl scrotum
OMIM:614527	LHX1	3975	HP:0000998	Hypertrichosis
OMIM:614527	LHX1	3975	HP:0000010	Recurrent urinary tract infections
OMIM:614527	LHX1	3975	HP:0000089	Renal hypoplasia
OMIM:614527	LHX1	3975	HP:0000348	High forehead
OMIM:614527	LHX1	3975	HP:0000028	Cryptorchidism
OMIM:614527	LHX1	3975	HP:0000365	Hearing impairment
OMIM:614527	LHX1	3975	HP:0000286	Epicanthus
OMIM:614527	LHX1	3975	HP:0000138	Ovarian cyst
OMIM:614527	LHX1	3975	HP:0001562	Oligohydramnios
OMIM:614527	LHX1	3975	HP:0000717	Autism
OMIM:614527	LHX1	3975	HP:0009824	Upper limb undergrowth
OMIM:614527	LHX1	3975	HP:0000069	Abnormality of the ureter
OMIM:614527	LHX1	3975	HP:0000083	Renal insufficiency
OMIM:614527	LHX1	3975	HP:0000535	Sparse eyebrow
OMIM:614527	LHX1	3975	HP:0004279	Short palm
OMIM:614527	LHX1	3975	HP:0005280	Depressed nasal bridge
OMIM:614527	LHX1	3975	HP:0002553	Highly arched eyebrow
OMIM:614527	LHX1	3975	HP:0000151	Aplasia of the uterus
OMIM:614527	LHX1	3975	HP:0000411	Protruding ear
OMIM:614527	LHX1	3975	HP:0002910	Elevated hepatic transaminases
OMIM:614527	LHX1	3975	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:614527	LHX1	3975	HP:0003774	Stage 5 chronic kidney disease
OMIM:614527	LHX1	3975	HP:0000278	Retrognathia
OMIM:614527	LHX1	3975	HP:0000819	Diabetes mellitus
OMIM:614527	LHX1	3975	HP:0001249	Intellectual disability
OMIM:614527	LHX1	3975	HP:0000324	Facial asymmetry
OMIM:614527	LHX1	3975	HP:0100543	Cognitive impairment
OMIM:614527	LHX1	3975	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:614527	LHX1	3975	HP:0000177	Abnormality of upper lip
OMIM:614527	LHX1	3975	HP:0010511	Long toe
OMIM:614527	LHX1	3975	HP:0100807	Long fingers
OMIM:614527	LHX1	3975	HP:0000494	Downslanted palpebral fissures
OMIM:614527	LHX1	3975	HP:0002650	Scoliosis
OMIM:614527	LHX1	3975	HP:0008661	Urethral stenosis
OMIM:614527	LHX1	3975	HP:0100753	Schizophrenia
OMIM:614527	LHX1	3975	HP:0000003	Multicystic kidney dysplasia
OMIM:614527	LHX1	3975	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:614527	LHX1	3975	HP:0001679	Abnormality of the aorta
OMIM:614527	LHX1	3975	HP:0000272	Malar flattening
OMIM:614527	LHX1	3975	HP:0001250	Seizures
OMIM:614527	LHX1	3975	HP:0002120	Cerebral cortical atrophy
OMIM:614527	LHX1	3975	HP:0000303	Mandibular prognathia
OMIM:614527	LHX1	3975	HP:0002167	Neurological speech impairment
OMIM:614527	LHX1	3975	HP:0000006	Autosomal dominant inheritance
OMIM:614527	LHX1	3975	HP:0000126	Hydronephrosis
OMIM:614527	LHX1	3975	HP:0001773	Short foot
OMIM:614527	LHX1	3975	HP:0000750	Delayed speech and language development
OMIM:614527	LHX1	3975	HP:0008404	Nail dystrophy
OMIM:551000	TRNT	4576	HP:0003198	Myopathy
OMIM:551000	TRNT	4576	HP:0001427	Mitochondrial inheritance
OMIM:551000	TRNT	4576	HP:0003128	Lactic acidosis
OMIM:605375	CRH	1392	HP:0000006	Autosomal dominant inheritance
OMIM:605375	CRH	1392	HP:0001250	Seizures
OMIM:605375	CHRNA4	1137	HP:0000006	Autosomal dominant inheritance
OMIM:605375	CHRNA4	1137	HP:0001250	Seizures
OMIM:605375	DEPDC5	9681	HP:0000006	Autosomal dominant inheritance
OMIM:605375	DEPDC5	9681	HP:0001250	Seizures
OMIM:605375	CHRNB2	1141	HP:0000006	Autosomal dominant inheritance
OMIM:605375	CHRNB2	1141	HP:0001250	Seizures
OMIM:605375	KCNT1	57582	HP:0000006	Autosomal dominant inheritance
OMIM:605375	KCNT1	57582	HP:0001250	Seizures
OMIM:605375	CHRNA2	1135	HP:0000006	Autosomal dominant inheritance
OMIM:605375	CHRNA2	1135	HP:0001250	Seizures
OMIM:261550	AMH	268	HP:0000007	Autosomal recessive inheritance
OMIM:261550	AMH	268	HP:0000028	Cryptorchidism
OMIM:261550	AMH	268	HP:0000023	Inguinal hernia
OMIM:261550	AMH	268	HP:0004299	Hernia of the abdominal wall
OMIM:261550	AMH	268	HP:0000022	Abnormality of male internal genitalia
OMIM:261550	AMH	268	HP:0000037	Male pseudohermaphroditism
OMIM:261550	AMH	268	HP:0003117	Abnormality of circulating hormone level
OMIM:261550	AMH	268	HP:0003251	Male infertility
OMIM:261550	AMHR2	269	HP:0000007	Autosomal recessive inheritance
OMIM:261550	AMHR2	269	HP:0000028	Cryptorchidism
OMIM:261550	AMHR2	269	HP:0000023	Inguinal hernia
OMIM:261550	AMHR2	269	HP:0004299	Hernia of the abdominal wall
OMIM:261550	AMHR2	269	HP:0000022	Abnormality of male internal genitalia
OMIM:261550	AMHR2	269	HP:0000037	Male pseudohermaphroditism
OMIM:261550	AMHR2	269	HP:0003117	Abnormality of circulating hormone level
OMIM:261550	AMHR2	269	HP:0003251	Male infertility
OMIM:300633	MAMLD1	10046	HP:0000051	Perineal hypospadias
OMIM:300633	MAMLD1	10046	HP:0001419	X-linked recessive inheritance
OMIM:300633	AR	367	HP:0000051	Perineal hypospadias
OMIM:300633	AR	367	HP:0001419	X-linked recessive inheritance
OMIM:610629	TSR2	90121	HP:0001896	Reticulocytopenia
OMIM:610629	TSR2	90121	HP:0001972	Macrocytic anemia
OMIM:610629	TSR2	90121	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPS17	6218	HP:0001896	Reticulocytopenia
OMIM:610629	RPS17	6218	HP:0001972	Macrocytic anemia
OMIM:610629	RPS17	6218	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPL26	6154	HP:0001896	Reticulocytopenia
OMIM:610629	RPL26	6154	HP:0001972	Macrocytic anemia
OMIM:610629	RPL26	6154	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPL5	6125	HP:0001896	Reticulocytopenia
OMIM:610629	RPL5	6125	HP:0001972	Macrocytic anemia
OMIM:610629	RPL5	6125	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPS19	6223	HP:0001896	Reticulocytopenia
OMIM:610629	RPS19	6223	HP:0001972	Macrocytic anemia
OMIM:610629	RPS19	6223	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPS24	6229	HP:0001896	Reticulocytopenia
OMIM:610629	RPS24	6229	HP:0001972	Macrocytic anemia
OMIM:610629	RPS24	6229	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPL35A	6165	HP:0001896	Reticulocytopenia
OMIM:610629	RPL35A	6165	HP:0001972	Macrocytic anemia
OMIM:610629	RPL35A	6165	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPL11	6135	HP:0001896	Reticulocytopenia
OMIM:610629	RPL11	6135	HP:0001972	Macrocytic anemia
OMIM:610629	RPL11	6135	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPS26	6231	HP:0001896	Reticulocytopenia
OMIM:610629	RPS26	6231	HP:0001972	Macrocytic anemia
OMIM:610629	RPS26	6231	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPS7	6201	HP:0001896	Reticulocytopenia
OMIM:610629	RPS7	6201	HP:0001972	Macrocytic anemia
OMIM:610629	RPS7	6201	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPL15	6138	HP:0001896	Reticulocytopenia
OMIM:610629	RPL15	6138	HP:0001972	Macrocytic anemia
OMIM:610629	RPL15	6138	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPS28	6234	HP:0001896	Reticulocytopenia
OMIM:610629	RPS28	6234	HP:0001972	Macrocytic anemia
OMIM:610629	RPS28	6234	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPS29	6235	HP:0001896	Reticulocytopenia
OMIM:610629	RPS29	6235	HP:0001972	Macrocytic anemia
OMIM:610629	RPS29	6235	HP:0000006	Autosomal dominant inheritance
OMIM:610629	RPS10	6204	HP:0001896	Reticulocytopenia
OMIM:610629	RPS10	6204	HP:0001972	Macrocytic anemia
OMIM:610629	RPS10	6204	HP:0000006	Autosomal dominant inheritance
OMIM:610629	GATA1	2623	HP:0001896	Reticulocytopenia
OMIM:610629	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:610629	GATA1	2623	HP:0000006	Autosomal dominant inheritance
OMIM:300844	ZNF711	7552	HP:0011220	Prominent forehead
OMIM:300844	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300844	ZNF711	7552	HP:0000750	Delayed speech and language development
OMIM:300844	ZNF711	7552	HP:0001252	Muscular hypotonia
OMIM:300844	ZNF711	7552	HP:0001270	Motor delay
OMIM:300844	ZNF711	7552	HP:0000179	Thick lower lip vermilion
OMIM:300844	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300844	ZNF711	7552	HP:0001833	Long foot
OMIM:300844	ZNF711	7552	HP:0002751	Kyphoscoliosis
OMIM:300844	ZNF711	7552	HP:0001518	Small for gestational age
OMIM:300844	ZNF711	7552	HP:0000455	Broad nasal tip
OMIM:300844	ZNF711	7552	HP:0000678	Dental crowding
OMIM:300844	IL1RAPL1	11141	HP:0011220	Prominent forehead
OMIM:300844	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300844	IL1RAPL1	11141	HP:0000750	Delayed speech and language development
OMIM:300844	IL1RAPL1	11141	HP:0001252	Muscular hypotonia
OMIM:300844	IL1RAPL1	11141	HP:0001270	Motor delay
OMIM:300844	IL1RAPL1	11141	HP:0000179	Thick lower lip vermilion
OMIM:300844	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300844	IL1RAPL1	11141	HP:0001833	Long foot
OMIM:300844	IL1RAPL1	11141	HP:0002751	Kyphoscoliosis
OMIM:300844	IL1RAPL1	11141	HP:0001518	Small for gestational age
OMIM:300844	IL1RAPL1	11141	HP:0000455	Broad nasal tip
OMIM:300844	IL1RAPL1	11141	HP:0000678	Dental crowding
OMIM:300844	ACSL4	2182	HP:0011220	Prominent forehead
OMIM:300844	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300844	ACSL4	2182	HP:0000750	Delayed speech and language development
OMIM:300844	ACSL4	2182	HP:0001252	Muscular hypotonia
OMIM:300844	ACSL4	2182	HP:0001270	Motor delay
OMIM:300844	ACSL4	2182	HP:0000179	Thick lower lip vermilion
OMIM:300844	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300844	ACSL4	2182	HP:0001833	Long foot
OMIM:300844	ACSL4	2182	HP:0002751	Kyphoscoliosis
OMIM:300844	ACSL4	2182	HP:0001518	Small for gestational age
OMIM:300844	ACSL4	2182	HP:0000455	Broad nasal tip
OMIM:300844	ACSL4	2182	HP:0000678	Dental crowding
OMIM:300844	PAK3	5063	HP:0011220	Prominent forehead
OMIM:300844	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300844	PAK3	5063	HP:0000750	Delayed speech and language development
OMIM:300844	PAK3	5063	HP:0001252	Muscular hypotonia
OMIM:300844	PAK3	5063	HP:0001270	Motor delay
OMIM:300844	PAK3	5063	HP:0000179	Thick lower lip vermilion
OMIM:300844	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300844	PAK3	5063	HP:0001833	Long foot
OMIM:300844	PAK3	5063	HP:0002751	Kyphoscoliosis
OMIM:300844	PAK3	5063	HP:0001518	Small for gestational age
OMIM:300844	PAK3	5063	HP:0000455	Broad nasal tip
OMIM:300844	PAK3	5063	HP:0000678	Dental crowding
OMIM:300844	SYP	6855	HP:0011220	Prominent forehead
OMIM:300844	SYP	6855	HP:0001249	Intellectual disability
OMIM:300844	SYP	6855	HP:0000750	Delayed speech and language development
OMIM:300844	SYP	6855	HP:0001252	Muscular hypotonia
OMIM:300844	SYP	6855	HP:0001270	Motor delay
OMIM:300844	SYP	6855	HP:0000179	Thick lower lip vermilion
OMIM:300844	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300844	SYP	6855	HP:0001833	Long foot
OMIM:300844	SYP	6855	HP:0002751	Kyphoscoliosis
OMIM:300844	SYP	6855	HP:0001518	Small for gestational age
OMIM:300844	SYP	6855	HP:0000455	Broad nasal tip
OMIM:300844	SYP	6855	HP:0000678	Dental crowding
OMIM:300844	FTSJ1	24140	HP:0011220	Prominent forehead
OMIM:300844	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300844	FTSJ1	24140	HP:0000750	Delayed speech and language development
OMIM:300844	FTSJ1	24140	HP:0001252	Muscular hypotonia
OMIM:300844	FTSJ1	24140	HP:0001270	Motor delay
OMIM:300844	FTSJ1	24140	HP:0000179	Thick lower lip vermilion
OMIM:300844	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300844	FTSJ1	24140	HP:0001833	Long foot
OMIM:300844	FTSJ1	24140	HP:0002751	Kyphoscoliosis
OMIM:300844	FTSJ1	24140	HP:0001518	Small for gestational age
OMIM:300844	FTSJ1	24140	HP:0000455	Broad nasal tip
OMIM:300844	FTSJ1	24140	HP:0000678	Dental crowding
OMIM:300844	DLG3	1741	HP:0011220	Prominent forehead
OMIM:300844	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300844	DLG3	1741	HP:0000750	Delayed speech and language development
OMIM:300844	DLG3	1741	HP:0001252	Muscular hypotonia
OMIM:300844	DLG3	1741	HP:0001270	Motor delay
OMIM:300844	DLG3	1741	HP:0000179	Thick lower lip vermilion
OMIM:300844	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300844	DLG3	1741	HP:0001833	Long foot
OMIM:300844	DLG3	1741	HP:0002751	Kyphoscoliosis
OMIM:300844	DLG3	1741	HP:0001518	Small for gestational age
OMIM:300844	DLG3	1741	HP:0000455	Broad nasal tip
OMIM:300844	DLG3	1741	HP:0000678	Dental crowding
OMIM:300844	PTCHD1	139411	HP:0011220	Prominent forehead
OMIM:300844	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300844	PTCHD1	139411	HP:0000750	Delayed speech and language development
OMIM:300844	PTCHD1	139411	HP:0001252	Muscular hypotonia
OMIM:300844	PTCHD1	139411	HP:0001270	Motor delay
OMIM:300844	PTCHD1	139411	HP:0000179	Thick lower lip vermilion
OMIM:300844	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300844	PTCHD1	139411	HP:0001833	Long foot
OMIM:300844	PTCHD1	139411	HP:0002751	Kyphoscoliosis
OMIM:300844	PTCHD1	139411	HP:0001518	Small for gestational age
OMIM:300844	PTCHD1	139411	HP:0000455	Broad nasal tip
OMIM:300844	PTCHD1	139411	HP:0000678	Dental crowding
OMIM:300844	UPF3B	65109	HP:0011220	Prominent forehead
OMIM:300844	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300844	UPF3B	65109	HP:0000750	Delayed speech and language development
OMIM:300844	UPF3B	65109	HP:0001252	Muscular hypotonia
OMIM:300844	UPF3B	65109	HP:0001270	Motor delay
OMIM:300844	UPF3B	65109	HP:0000179	Thick lower lip vermilion
OMIM:300844	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300844	UPF3B	65109	HP:0001833	Long foot
OMIM:300844	UPF3B	65109	HP:0002751	Kyphoscoliosis
OMIM:300844	UPF3B	65109	HP:0001518	Small for gestational age
OMIM:300844	UPF3B	65109	HP:0000455	Broad nasal tip
OMIM:300844	UPF3B	65109	HP:0000678	Dental crowding
OMIM:300844	ZNF81	347344	HP:0011220	Prominent forehead
OMIM:300844	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300844	ZNF81	347344	HP:0000750	Delayed speech and language development
OMIM:300844	ZNF81	347344	HP:0001252	Muscular hypotonia
OMIM:300844	ZNF81	347344	HP:0001270	Motor delay
OMIM:300844	ZNF81	347344	HP:0000179	Thick lower lip vermilion
OMIM:300844	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300844	ZNF81	347344	HP:0001833	Long foot
OMIM:300844	ZNF81	347344	HP:0002751	Kyphoscoliosis
OMIM:300844	ZNF81	347344	HP:0001518	Small for gestational age
OMIM:300844	ZNF81	347344	HP:0000455	Broad nasal tip
OMIM:300844	ZNF81	347344	HP:0000678	Dental crowding
OMIM:300844	RAB39B	116442	HP:0011220	Prominent forehead
OMIM:300844	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300844	RAB39B	116442	HP:0000750	Delayed speech and language development
OMIM:300844	RAB39B	116442	HP:0001252	Muscular hypotonia
OMIM:300844	RAB39B	116442	HP:0001270	Motor delay
OMIM:300844	RAB39B	116442	HP:0000179	Thick lower lip vermilion
OMIM:300844	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300844	RAB39B	116442	HP:0001833	Long foot
OMIM:300844	RAB39B	116442	HP:0002751	Kyphoscoliosis
OMIM:300844	RAB39B	116442	HP:0001518	Small for gestational age
OMIM:300844	RAB39B	116442	HP:0000455	Broad nasal tip
OMIM:300844	RAB39B	116442	HP:0000678	Dental crowding
OMIM:300844	DMD	1756	HP:0011220	Prominent forehead
OMIM:300844	DMD	1756	HP:0001249	Intellectual disability
OMIM:300844	DMD	1756	HP:0000750	Delayed speech and language development
OMIM:300844	DMD	1756	HP:0001252	Muscular hypotonia
OMIM:300844	DMD	1756	HP:0001270	Motor delay
OMIM:300844	DMD	1756	HP:0000179	Thick lower lip vermilion
OMIM:300844	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300844	DMD	1756	HP:0001833	Long foot
OMIM:300844	DMD	1756	HP:0002751	Kyphoscoliosis
OMIM:300844	DMD	1756	HP:0001518	Small for gestational age
OMIM:300844	DMD	1756	HP:0000455	Broad nasal tip
OMIM:300844	DMD	1756	HP:0000678	Dental crowding
OMIM:300844	MAGT1	84061	HP:0011220	Prominent forehead
OMIM:300844	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300844	MAGT1	84061	HP:0000750	Delayed speech and language development
OMIM:300844	MAGT1	84061	HP:0001252	Muscular hypotonia
OMIM:300844	MAGT1	84061	HP:0001270	Motor delay
OMIM:300844	MAGT1	84061	HP:0000179	Thick lower lip vermilion
OMIM:300844	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300844	MAGT1	84061	HP:0001833	Long foot
OMIM:300844	MAGT1	84061	HP:0002751	Kyphoscoliosis
OMIM:300844	MAGT1	84061	HP:0001518	Small for gestational age
OMIM:300844	MAGT1	84061	HP:0000455	Broad nasal tip
OMIM:300844	MAGT1	84061	HP:0000678	Dental crowding
OMIM:300844	MID2	11043	HP:0011220	Prominent forehead
OMIM:300844	MID2	11043	HP:0001249	Intellectual disability
OMIM:300844	MID2	11043	HP:0000750	Delayed speech and language development
OMIM:300844	MID2	11043	HP:0001252	Muscular hypotonia
OMIM:300844	MID2	11043	HP:0001270	Motor delay
OMIM:300844	MID2	11043	HP:0000179	Thick lower lip vermilion
OMIM:300844	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300844	MID2	11043	HP:0001833	Long foot
OMIM:300844	MID2	11043	HP:0002751	Kyphoscoliosis
OMIM:300844	MID2	11043	HP:0001518	Small for gestational age
OMIM:300844	MID2	11043	HP:0000455	Broad nasal tip
OMIM:300844	MID2	11043	HP:0000678	Dental crowding
OMIM:300844	GDI1	2664	HP:0011220	Prominent forehead
OMIM:300844	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300844	GDI1	2664	HP:0000750	Delayed speech and language development
OMIM:300844	GDI1	2664	HP:0001252	Muscular hypotonia
OMIM:300844	GDI1	2664	HP:0001270	Motor delay
OMIM:300844	GDI1	2664	HP:0000179	Thick lower lip vermilion
OMIM:300844	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300844	GDI1	2664	HP:0001833	Long foot
OMIM:300844	GDI1	2664	HP:0002751	Kyphoscoliosis
OMIM:300844	GDI1	2664	HP:0001518	Small for gestational age
OMIM:300844	GDI1	2664	HP:0000455	Broad nasal tip
OMIM:300844	GDI1	2664	HP:0000678	Dental crowding
OMIM:300844	ZNF41	7592	HP:0011220	Prominent forehead
OMIM:300844	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300844	ZNF41	7592	HP:0000750	Delayed speech and language development
OMIM:300844	ZNF41	7592	HP:0001252	Muscular hypotonia
OMIM:300844	ZNF41	7592	HP:0001270	Motor delay
OMIM:300844	ZNF41	7592	HP:0000179	Thick lower lip vermilion
OMIM:300844	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300844	ZNF41	7592	HP:0001833	Long foot
OMIM:300844	ZNF41	7592	HP:0002751	Kyphoscoliosis
OMIM:300844	ZNF41	7592	HP:0001518	Small for gestational age
OMIM:300844	ZNF41	7592	HP:0000455	Broad nasal tip
OMIM:300844	ZNF41	7592	HP:0000678	Dental crowding
OMIM:300844	MECP2	4204	HP:0011220	Prominent forehead
OMIM:300844	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300844	MECP2	4204	HP:0000750	Delayed speech and language development
OMIM:300844	MECP2	4204	HP:0001252	Muscular hypotonia
OMIM:300844	MECP2	4204	HP:0001270	Motor delay
OMIM:300844	MECP2	4204	HP:0000179	Thick lower lip vermilion
OMIM:300844	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300844	MECP2	4204	HP:0001833	Long foot
OMIM:300844	MECP2	4204	HP:0002751	Kyphoscoliosis
OMIM:300844	MECP2	4204	HP:0001518	Small for gestational age
OMIM:300844	MECP2	4204	HP:0000455	Broad nasal tip
OMIM:300844	MECP2	4204	HP:0000678	Dental crowding
OMIM:300844	HCFC1	3054	HP:0011220	Prominent forehead
OMIM:300844	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300844	HCFC1	3054	HP:0000750	Delayed speech and language development
OMIM:300844	HCFC1	3054	HP:0001252	Muscular hypotonia
OMIM:300844	HCFC1	3054	HP:0001270	Motor delay
OMIM:300844	HCFC1	3054	HP:0000179	Thick lower lip vermilion
OMIM:300844	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300844	HCFC1	3054	HP:0001833	Long foot
OMIM:300844	HCFC1	3054	HP:0002751	Kyphoscoliosis
OMIM:300844	HCFC1	3054	HP:0001518	Small for gestational age
OMIM:300844	HCFC1	3054	HP:0000455	Broad nasal tip
OMIM:300844	HCFC1	3054	HP:0000678	Dental crowding
OMIM:300844	USP9X	8239	HP:0011220	Prominent forehead
OMIM:300844	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300844	USP9X	8239	HP:0000750	Delayed speech and language development
OMIM:300844	USP9X	8239	HP:0001252	Muscular hypotonia
OMIM:300844	USP9X	8239	HP:0001270	Motor delay
OMIM:300844	USP9X	8239	HP:0000179	Thick lower lip vermilion
OMIM:300844	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300844	USP9X	8239	HP:0001833	Long foot
OMIM:300844	USP9X	8239	HP:0002751	Kyphoscoliosis
OMIM:300844	USP9X	8239	HP:0001518	Small for gestational age
OMIM:300844	USP9X	8239	HP:0000455	Broad nasal tip
OMIM:300844	USP9X	8239	HP:0000678	Dental crowding
OMIM:300844	MED12	9968	HP:0011220	Prominent forehead
OMIM:300844	MED12	9968	HP:0001249	Intellectual disability
OMIM:300844	MED12	9968	HP:0000750	Delayed speech and language development
OMIM:300844	MED12	9968	HP:0001252	Muscular hypotonia
OMIM:300844	MED12	9968	HP:0001270	Motor delay
OMIM:300844	MED12	9968	HP:0000179	Thick lower lip vermilion
OMIM:300844	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300844	MED12	9968	HP:0001833	Long foot
OMIM:300844	MED12	9968	HP:0002751	Kyphoscoliosis
OMIM:300844	MED12	9968	HP:0001518	Small for gestational age
OMIM:300844	MED12	9968	HP:0000455	Broad nasal tip
OMIM:300844	MED12	9968	HP:0000678	Dental crowding
OMIM:300844	ZNF674	641339	HP:0011220	Prominent forehead
OMIM:300844	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300844	ZNF674	641339	HP:0000750	Delayed speech and language development
OMIM:300844	ZNF674	641339	HP:0001252	Muscular hypotonia
OMIM:300844	ZNF674	641339	HP:0001270	Motor delay
OMIM:300844	ZNF674	641339	HP:0000179	Thick lower lip vermilion
OMIM:300844	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300844	ZNF674	641339	HP:0001833	Long foot
OMIM:300844	ZNF674	641339	HP:0002751	Kyphoscoliosis
OMIM:300844	ZNF674	641339	HP:0001518	Small for gestational age
OMIM:300844	ZNF674	641339	HP:0000455	Broad nasal tip
OMIM:300844	ZNF674	641339	HP:0000678	Dental crowding
OMIM:300844	ARHGEF6	9459	HP:0011220	Prominent forehead
OMIM:300844	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300844	ARHGEF6	9459	HP:0000750	Delayed speech and language development
OMIM:300844	ARHGEF6	9459	HP:0001252	Muscular hypotonia
OMIM:300844	ARHGEF6	9459	HP:0001270	Motor delay
OMIM:300844	ARHGEF6	9459	HP:0000179	Thick lower lip vermilion
OMIM:300844	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300844	ARHGEF6	9459	HP:0001833	Long foot
OMIM:300844	ARHGEF6	9459	HP:0002751	Kyphoscoliosis
OMIM:300844	ARHGEF6	9459	HP:0001518	Small for gestational age
OMIM:300844	ARHGEF6	9459	HP:0000455	Broad nasal tip
OMIM:300844	ARHGEF6	9459	HP:0000678	Dental crowding
OMIM:300844	RPS6KA3	6197	HP:0011220	Prominent forehead
OMIM:300844	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300844	RPS6KA3	6197	HP:0000750	Delayed speech and language development
OMIM:300844	RPS6KA3	6197	HP:0001252	Muscular hypotonia
OMIM:300844	RPS6KA3	6197	HP:0001270	Motor delay
OMIM:300844	RPS6KA3	6197	HP:0000179	Thick lower lip vermilion
OMIM:300844	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300844	RPS6KA3	6197	HP:0001833	Long foot
OMIM:300844	RPS6KA3	6197	HP:0002751	Kyphoscoliosis
OMIM:300844	RPS6KA3	6197	HP:0001518	Small for gestational age
OMIM:300844	RPS6KA3	6197	HP:0000455	Broad nasal tip
OMIM:300844	RPS6KA3	6197	HP:0000678	Dental crowding
OMIM:300844	IQSEC2	23096	HP:0011220	Prominent forehead
OMIM:300844	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300844	IQSEC2	23096	HP:0000750	Delayed speech and language development
OMIM:300844	IQSEC2	23096	HP:0001252	Muscular hypotonia
OMIM:300844	IQSEC2	23096	HP:0001270	Motor delay
OMIM:300844	IQSEC2	23096	HP:0000179	Thick lower lip vermilion
OMIM:300844	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300844	IQSEC2	23096	HP:0001833	Long foot
OMIM:300844	IQSEC2	23096	HP:0002751	Kyphoscoliosis
OMIM:300844	IQSEC2	23096	HP:0001518	Small for gestational age
OMIM:300844	IQSEC2	23096	HP:0000455	Broad nasal tip
OMIM:300844	IQSEC2	23096	HP:0000678	Dental crowding
OMIM:300844	AGTR2	186	HP:0011220	Prominent forehead
OMIM:300844	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300844	AGTR2	186	HP:0000750	Delayed speech and language development
OMIM:300844	AGTR2	186	HP:0001252	Muscular hypotonia
OMIM:300844	AGTR2	186	HP:0001270	Motor delay
OMIM:300844	AGTR2	186	HP:0000179	Thick lower lip vermilion
OMIM:300844	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300844	AGTR2	186	HP:0001833	Long foot
OMIM:300844	AGTR2	186	HP:0002751	Kyphoscoliosis
OMIM:300844	AGTR2	186	HP:0001518	Small for gestational age
OMIM:300844	AGTR2	186	HP:0000455	Broad nasal tip
OMIM:300844	AGTR2	186	HP:0000678	Dental crowding
OMIM:300844	ARX	170302	HP:0011220	Prominent forehead
OMIM:300844	ARX	170302	HP:0001249	Intellectual disability
OMIM:300844	ARX	170302	HP:0000750	Delayed speech and language development
OMIM:300844	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:300844	ARX	170302	HP:0001270	Motor delay
OMIM:300844	ARX	170302	HP:0000179	Thick lower lip vermilion
OMIM:300844	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300844	ARX	170302	HP:0001833	Long foot
OMIM:300844	ARX	170302	HP:0002751	Kyphoscoliosis
OMIM:300844	ARX	170302	HP:0001518	Small for gestational age
OMIM:300844	ARX	170302	HP:0000455	Broad nasal tip
OMIM:300844	ARX	170302	HP:0000678	Dental crowding
OMIM:300844	ALG13	79868	HP:0011220	Prominent forehead
OMIM:300844	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300844	ALG13	79868	HP:0000750	Delayed speech and language development
OMIM:300844	ALG13	79868	HP:0001252	Muscular hypotonia
OMIM:300844	ALG13	79868	HP:0001270	Motor delay
OMIM:300844	ALG13	79868	HP:0000179	Thick lower lip vermilion
OMIM:300844	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300844	ALG13	79868	HP:0001833	Long foot
OMIM:300844	ALG13	79868	HP:0002751	Kyphoscoliosis
OMIM:300844	ALG13	79868	HP:0001518	Small for gestational age
OMIM:300844	ALG13	79868	HP:0000455	Broad nasal tip
OMIM:300844	ALG13	79868	HP:0000678	Dental crowding
OMIM:300844	TSPAN7	7102	HP:0011220	Prominent forehead
OMIM:300844	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300844	TSPAN7	7102	HP:0000750	Delayed speech and language development
OMIM:300844	TSPAN7	7102	HP:0001252	Muscular hypotonia
OMIM:300844	TSPAN7	7102	HP:0001270	Motor delay
OMIM:300844	TSPAN7	7102	HP:0000179	Thick lower lip vermilion
OMIM:300844	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:300844	TSPAN7	7102	HP:0001833	Long foot
OMIM:300844	TSPAN7	7102	HP:0002751	Kyphoscoliosis
OMIM:300844	TSPAN7	7102	HP:0001518	Small for gestational age
OMIM:300844	TSPAN7	7102	HP:0000455	Broad nasal tip
OMIM:300844	TSPAN7	7102	HP:0000678	Dental crowding
OMIM:614980	TAB2	23118	HP:0001647	Bicuspid aortic valve
OMIM:614980	TAB2	23118	HP:0001724	Aortic dilatation
OMIM:614980	TAB2	23118	HP:0001682	Subaortic stenosis
OMIM:615986	MKKS	8195	HP:0001249	Intellectual disability
OMIM:615986	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615986	MKKS	8195	HP:0010442	Polydactyly
OMIM:615986	MKKS	8195	HP:0001513	Obesity
OMIM:615986	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:615986	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615986	NPHP1	4867	HP:0010442	Polydactyly
OMIM:615986	NPHP1	4867	HP:0001513	Obesity
OMIM:615986	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:615986	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615986	BBIP1	92482	HP:0010442	Polydactyly
OMIM:615986	BBIP1	92482	HP:0001513	Obesity
OMIM:615986	ARL6	84100	HP:0001249	Intellectual disability
OMIM:615986	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615986	ARL6	84100	HP:0010442	Polydactyly
OMIM:615986	ARL6	84100	HP:0001513	Obesity
OMIM:615986	BBS1	582	HP:0001249	Intellectual disability
OMIM:615986	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615986	BBS1	582	HP:0010442	Polydactyly
OMIM:615986	BBS1	582	HP:0001513	Obesity
OMIM:615986	BBS2	583	HP:0001249	Intellectual disability
OMIM:615986	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615986	BBS2	583	HP:0010442	Polydactyly
OMIM:615986	BBS2	583	HP:0001513	Obesity
OMIM:615986	BBS9	27241	HP:0001249	Intellectual disability
OMIM:615986	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615986	BBS9	27241	HP:0010442	Polydactyly
OMIM:615986	BBS9	27241	HP:0001513	Obesity
OMIM:615986	BBS4	585	HP:0001249	Intellectual disability
OMIM:615986	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615986	BBS4	585	HP:0010442	Polydactyly
OMIM:615986	BBS4	585	HP:0001513	Obesity
OMIM:615986	TTC8	123016	HP:0001249	Intellectual disability
OMIM:615986	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615986	TTC8	123016	HP:0010442	Polydactyly
OMIM:615986	TTC8	123016	HP:0001513	Obesity
OMIM:615986	BBS12	166379	HP:0001249	Intellectual disability
OMIM:615986	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615986	BBS12	166379	HP:0010442	Polydactyly
OMIM:615986	BBS12	166379	HP:0001513	Obesity
OMIM:615986	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:615986	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615986	TRIM32	22954	HP:0010442	Polydactyly
OMIM:615986	TRIM32	22954	HP:0001513	Obesity
OMIM:615986	BBS7	55212	HP:0001249	Intellectual disability
OMIM:615986	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615986	BBS7	55212	HP:0010442	Polydactyly
OMIM:615986	BBS7	55212	HP:0001513	Obesity
OMIM:615986	IFT27	11020	HP:0001249	Intellectual disability
OMIM:615986	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615986	IFT27	11020	HP:0010442	Polydactyly
OMIM:615986	IFT27	11020	HP:0001513	Obesity
OMIM:615986	IFT172	26160	HP:0001249	Intellectual disability
OMIM:615986	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615986	IFT172	26160	HP:0010442	Polydactyly
OMIM:615986	IFT172	26160	HP:0001513	Obesity
OMIM:615986	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:615986	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615986	WDPCP	51057	HP:0010442	Polydactyly
OMIM:615986	WDPCP	51057	HP:0001513	Obesity
OMIM:615986	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:615986	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615986	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:615986	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615986	MKS1	54903	HP:0001249	Intellectual disability
OMIM:615986	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615986	MKS1	54903	HP:0010442	Polydactyly
OMIM:615986	MKS1	54903	HP:0001513	Obesity
OMIM:615986	BBS5	129880	HP:0001249	Intellectual disability
OMIM:615986	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615986	BBS5	129880	HP:0010442	Polydactyly
OMIM:615986	BBS5	129880	HP:0001513	Obesity
OMIM:615986	CEP290	80184	HP:0001249	Intellectual disability
OMIM:615986	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615986	CEP290	80184	HP:0010442	Polydactyly
OMIM:615986	CEP290	80184	HP:0001513	Obesity
OMIM:615986	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:615986	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615986	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:615986	LZTFL1	54585	HP:0001513	Obesity
OMIM:615986	BBS10	79738	HP:0001249	Intellectual disability
OMIM:615986	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615986	BBS10	79738	HP:0010442	Polydactyly
OMIM:615986	BBS10	79738	HP:0001513	Obesity
OMIM:148300	VSX1	30813	HP:0001425	Heterogeneous
OMIM:148300	VSX1	30813	HP:0000006	Autosomal dominant inheritance
OMIM:148300	VSX1	30813	HP:0000483	Astigmatism
OMIM:148300	VSX1	30813	HP:0011462	Young adult onset
OMIM:148300	VSX1	30813	HP:0000563	Keratoconus
OMIM:614867	PEX19	5824	HP:0001263	Global developmental delay
OMIM:614867	PEX19	5824	HP:0001337	Tremor
OMIM:614867	PEX19	5824	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX19	5824	HP:0000639	Nystagmus
OMIM:614867	PEX19	5824	HP:0001410	Decreased liver function
OMIM:614867	PEX19	5824	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX19	5824	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX19	5824	HP:0001260	Dysarthria
OMIM:614867	PEX19	5824	HP:0001310	Dysmetria
OMIM:614867	PEX19	5824	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX19	5824	HP:0002317	Unsteady gait
OMIM:614867	PEX19	5824	HP:0001265	Hyporeflexia
OMIM:614867	PEX19	5824	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX19	5824	HP:0000505	Visual impairment
OMIM:614867	PEX19	5824	HP:0001761	Pes cavus
OMIM:614867	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX16	9409	HP:0001263	Global developmental delay
OMIM:614867	PEX16	9409	HP:0001337	Tremor
OMIM:614867	PEX16	9409	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX16	9409	HP:0000639	Nystagmus
OMIM:614867	PEX16	9409	HP:0001410	Decreased liver function
OMIM:614867	PEX16	9409	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX16	9409	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX16	9409	HP:0001260	Dysarthria
OMIM:614867	PEX16	9409	HP:0001310	Dysmetria
OMIM:614867	PEX16	9409	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX16	9409	HP:0002317	Unsteady gait
OMIM:614867	PEX16	9409	HP:0001265	Hyporeflexia
OMIM:614867	PEX16	9409	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX16	9409	HP:0000505	Visual impairment
OMIM:614867	PEX16	9409	HP:0001761	Pes cavus
OMIM:614867	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX2	5828	HP:0001263	Global developmental delay
OMIM:614867	PEX2	5828	HP:0001337	Tremor
OMIM:614867	PEX2	5828	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX2	5828	HP:0000639	Nystagmus
OMIM:614867	PEX2	5828	HP:0001410	Decreased liver function
OMIM:614867	PEX2	5828	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX2	5828	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX2	5828	HP:0001260	Dysarthria
OMIM:614867	PEX2	5828	HP:0001310	Dysmetria
OMIM:614867	PEX2	5828	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX2	5828	HP:0002317	Unsteady gait
OMIM:614867	PEX2	5828	HP:0001265	Hyporeflexia
OMIM:614867	PEX2	5828	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX2	5828	HP:0000505	Visual impairment
OMIM:614867	PEX2	5828	HP:0001761	Pes cavus
OMIM:614867	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX1	5189	HP:0001263	Global developmental delay
OMIM:614867	PEX1	5189	HP:0001337	Tremor
OMIM:614867	PEX1	5189	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX1	5189	HP:0000639	Nystagmus
OMIM:614867	PEX1	5189	HP:0001410	Decreased liver function
OMIM:614867	PEX1	5189	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX1	5189	HP:0001260	Dysarthria
OMIM:614867	PEX1	5189	HP:0001310	Dysmetria
OMIM:614867	PEX1	5189	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX1	5189	HP:0002317	Unsteady gait
OMIM:614867	PEX1	5189	HP:0001265	Hyporeflexia
OMIM:614867	PEX1	5189	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX1	5189	HP:0000505	Visual impairment
OMIM:614867	PEX1	5189	HP:0001761	Pes cavus
OMIM:614867	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX5	5830	HP:0001263	Global developmental delay
OMIM:614867	PEX5	5830	HP:0001337	Tremor
OMIM:614867	PEX5	5830	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX5	5830	HP:0000639	Nystagmus
OMIM:614867	PEX5	5830	HP:0001410	Decreased liver function
OMIM:614867	PEX5	5830	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX5	5830	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX5	5830	HP:0001260	Dysarthria
OMIM:614867	PEX5	5830	HP:0001310	Dysmetria
OMIM:614867	PEX5	5830	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX5	5830	HP:0002317	Unsteady gait
OMIM:614867	PEX5	5830	HP:0001265	Hyporeflexia
OMIM:614867	PEX5	5830	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX5	5830	HP:0000505	Visual impairment
OMIM:614867	PEX5	5830	HP:0001761	Pes cavus
OMIM:614867	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX6	5190	HP:0001263	Global developmental delay
OMIM:614867	PEX6	5190	HP:0001337	Tremor
OMIM:614867	PEX6	5190	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX6	5190	HP:0000639	Nystagmus
OMIM:614867	PEX6	5190	HP:0001410	Decreased liver function
OMIM:614867	PEX6	5190	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX6	5190	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX6	5190	HP:0001260	Dysarthria
OMIM:614867	PEX6	5190	HP:0001310	Dysmetria
OMIM:614867	PEX6	5190	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX6	5190	HP:0002317	Unsteady gait
OMIM:614867	PEX6	5190	HP:0001265	Hyporeflexia
OMIM:614867	PEX6	5190	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX6	5190	HP:0000505	Visual impairment
OMIM:614867	PEX6	5190	HP:0001761	Pes cavus
OMIM:614867	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX10	5192	HP:0001263	Global developmental delay
OMIM:614867	PEX10	5192	HP:0001337	Tremor
OMIM:614867	PEX10	5192	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX10	5192	HP:0000639	Nystagmus
OMIM:614867	PEX10	5192	HP:0001410	Decreased liver function
OMIM:614867	PEX10	5192	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX10	5192	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX10	5192	HP:0001260	Dysarthria
OMIM:614867	PEX10	5192	HP:0001310	Dysmetria
OMIM:614867	PEX10	5192	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX10	5192	HP:0002317	Unsteady gait
OMIM:614867	PEX10	5192	HP:0001265	Hyporeflexia
OMIM:614867	PEX10	5192	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX10	5192	HP:0000505	Visual impairment
OMIM:614867	PEX10	5192	HP:0001761	Pes cavus
OMIM:614867	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX12	5193	HP:0001263	Global developmental delay
OMIM:614867	PEX12	5193	HP:0001337	Tremor
OMIM:614867	PEX12	5193	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX12	5193	HP:0000639	Nystagmus
OMIM:614867	PEX12	5193	HP:0001410	Decreased liver function
OMIM:614867	PEX12	5193	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX12	5193	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX12	5193	HP:0001260	Dysarthria
OMIM:614867	PEX12	5193	HP:0001310	Dysmetria
OMIM:614867	PEX12	5193	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX12	5193	HP:0002317	Unsteady gait
OMIM:614867	PEX12	5193	HP:0001265	Hyporeflexia
OMIM:614867	PEX12	5193	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX12	5193	HP:0000505	Visual impairment
OMIM:614867	PEX12	5193	HP:0001761	Pes cavus
OMIM:614867	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX13	5194	HP:0001263	Global developmental delay
OMIM:614867	PEX13	5194	HP:0001337	Tremor
OMIM:614867	PEX13	5194	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX13	5194	HP:0000639	Nystagmus
OMIM:614867	PEX13	5194	HP:0001410	Decreased liver function
OMIM:614867	PEX13	5194	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX13	5194	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX13	5194	HP:0001260	Dysarthria
OMIM:614867	PEX13	5194	HP:0001310	Dysmetria
OMIM:614867	PEX13	5194	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX13	5194	HP:0002317	Unsteady gait
OMIM:614867	PEX13	5194	HP:0001265	Hyporeflexia
OMIM:614867	PEX13	5194	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX13	5194	HP:0000505	Visual impairment
OMIM:614867	PEX13	5194	HP:0001761	Pes cavus
OMIM:614867	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX14	5195	HP:0001263	Global developmental delay
OMIM:614867	PEX14	5195	HP:0001337	Tremor
OMIM:614867	PEX14	5195	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX14	5195	HP:0000639	Nystagmus
OMIM:614867	PEX14	5195	HP:0001410	Decreased liver function
OMIM:614867	PEX14	5195	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX14	5195	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX14	5195	HP:0001260	Dysarthria
OMIM:614867	PEX14	5195	HP:0001310	Dysmetria
OMIM:614867	PEX14	5195	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX14	5195	HP:0002317	Unsteady gait
OMIM:614867	PEX14	5195	HP:0001265	Hyporeflexia
OMIM:614867	PEX14	5195	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX14	5195	HP:0000505	Visual impairment
OMIM:614867	PEX14	5195	HP:0001761	Pes cavus
OMIM:614867	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX26	55670	HP:0001263	Global developmental delay
OMIM:614867	PEX26	55670	HP:0001337	Tremor
OMIM:614867	PEX26	55670	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX26	55670	HP:0000639	Nystagmus
OMIM:614867	PEX26	55670	HP:0001410	Decreased liver function
OMIM:614867	PEX26	55670	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX26	55670	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX26	55670	HP:0001260	Dysarthria
OMIM:614867	PEX26	55670	HP:0001310	Dysmetria
OMIM:614867	PEX26	55670	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX26	55670	HP:0002317	Unsteady gait
OMIM:614867	PEX26	55670	HP:0001265	Hyporeflexia
OMIM:614867	PEX26	55670	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX26	55670	HP:0000505	Visual impairment
OMIM:614867	PEX26	55670	HP:0001761	Pes cavus
OMIM:614867	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX3	8504	HP:0001263	Global developmental delay
OMIM:614867	PEX3	8504	HP:0001337	Tremor
OMIM:614867	PEX3	8504	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX3	8504	HP:0000639	Nystagmus
OMIM:614867	PEX3	8504	HP:0001410	Decreased liver function
OMIM:614867	PEX3	8504	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX3	8504	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX3	8504	HP:0001260	Dysarthria
OMIM:614867	PEX3	8504	HP:0001310	Dysmetria
OMIM:614867	PEX3	8504	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX3	8504	HP:0002317	Unsteady gait
OMIM:614867	PEX3	8504	HP:0001265	Hyporeflexia
OMIM:614867	PEX3	8504	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX3	8504	HP:0000505	Visual impairment
OMIM:614867	PEX3	8504	HP:0001761	Pes cavus
OMIM:614867	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614867	PEX11B	8799	HP:0001263	Global developmental delay
OMIM:614867	PEX11B	8799	HP:0001337	Tremor
OMIM:614867	PEX11B	8799	HP:0000510	Rod-cone dystrophy
OMIM:614867	PEX11B	8799	HP:0000639	Nystagmus
OMIM:614867	PEX11B	8799	HP:0001410	Decreased liver function
OMIM:614867	PEX11B	8799	HP:0001272	Cerebellar atrophy
OMIM:614867	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
OMIM:614867	PEX11B	8799	HP:0001260	Dysarthria
OMIM:614867	PEX11B	8799	HP:0001310	Dysmetria
OMIM:614867	PEX11B	8799	HP:0001319	Neonatal hypotonia
OMIM:614867	PEX11B	8799	HP:0002317	Unsteady gait
OMIM:614867	PEX11B	8799	HP:0001265	Hyporeflexia
OMIM:614867	PEX11B	8799	HP:0000657	Oculomotor apraxia
OMIM:614867	PEX11B	8799	HP:0000505	Visual impairment
OMIM:614867	PEX11B	8799	HP:0001761	Pes cavus
OMIM:614867	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:245000	CTSC	1075	HP:0000998	Hypertrichosis
OMIM:245000	CTSC	1075	HP:0002205	Recurrent respiratory infections
OMIM:245000	CTSC	1075	HP:0200042	Skin ulcer
OMIM:245000	CTSC	1075	HP:0001166	Arachnodactyly
OMIM:245000	CTSC	1075	HP:0001231	Abnormality of the fingernails
OMIM:245000	CTSC	1075	HP:0000230	Gingivitis
OMIM:245000	CTSC	1075	HP:0000704	Periodontitis
OMIM:245000	CTSC	1075	HP:0002514	Cerebral calcification
OMIM:245000	CTSC	1075	HP:0002797	Osteolysis
OMIM:245000	CTSC	1075	HP:0100523	Liver abscess
OMIM:245000	CTSC	1075	HP:0002861	Melanoma
OMIM:245000	CTSC	1075	HP:0001053	Hypopigmented skin patches
OMIM:245000	CTSC	1075	HP:0008069	Neoplasm of the skin
OMIM:245000	CTSC	1075	HP:0000007	Autosomal recessive inheritance
OMIM:245000	CTSC	1075	HP:0009804	Reduced number of teeth
OMIM:245000	CTSC	1075	HP:0000982	Palmoplantar keratoderma
OMIM:245000	CTSC	1075	HP:0006960	Choroid plexus calcification
OMIM:610006	ACADSB	36	HP:0000007	Autosomal recessive inheritance
OMIM:610006	ACADSB	36	HP:0001270	Motor delay
OMIM:610006	ACADSB	36	HP:0001254	Lethargy
OMIM:610006	ACADSB	36	HP:0000252	Microcephaly
OMIM:610006	ACADSB	36	HP:0001252	Muscular hypotonia
OMIM:610006	ACADSB	36	HP:0001263	Global developmental delay
OMIM:610006	ACADSB	36	HP:0003593	Infantile onset
OMIM:610006	ACADSB	36	HP:0000577	Exotropia
OMIM:610006	ACADSB	36	HP:0001250	Seizures
OMIM:610006	ACADSB	36	HP:0001943	Hypoglycemia
OMIM:607644	IL17RC	84818	HP:0000006	Autosomal dominant inheritance
OMIM:607644	STAT1	6772	HP:0000006	Autosomal dominant inheritance
OMIM:607644	CLEC7A	64581	HP:0000006	Autosomal dominant inheritance
OMIM:607644	IL17RA	23765	HP:0000006	Autosomal dominant inheritance
OMIM:607644	TRAF3IP2	10758	HP:0000006	Autosomal dominant inheritance
OMIM:607644	IL17F	112744	HP:0000006	Autosomal dominant inheritance
OMIM:607644	CARD9	64170	HP:0000006	Autosomal dominant inheritance
OMIM:609273	KBTBD13	390594	HP:0001288	Gait disturbance
OMIM:609273	KBTBD13	390594	HP:0003198	Myopathy
OMIM:609273	KBTBD13	390594	HP:0003690	Limb muscle weakness
OMIM:609273	KBTBD13	390594	HP:0003677	Slow progression
OMIM:609273	KBTBD13	390594	HP:0000006	Autosomal dominant inheritance
OMIM:600919	CALM1	801	HP:0001688	Sinus bradycardia
OMIM:600919	CALM1	801	HP:0001645	Sudden cardiac death
OMIM:600919	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:600919	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:600919	CALM1	801	HP:0001279	Syncope
OMIM:600919	CALM1	801	HP:0005110	Atrial fibrillation
OMIM:600919	CALM2	805	HP:0001688	Sinus bradycardia
OMIM:600919	CALM2	805	HP:0001645	Sudden cardiac death
OMIM:600919	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:600919	CALM2	805	HP:0001657	Prolonged QT interval
OMIM:600919	CALM2	805	HP:0001279	Syncope
OMIM:600919	CALM2	805	HP:0005110	Atrial fibrillation
OMIM:600919	KCNE2	9992	HP:0001688	Sinus bradycardia
OMIM:600919	KCNE2	9992	HP:0001645	Sudden cardiac death
OMIM:600919	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:600919	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:600919	KCNE2	9992	HP:0001279	Syncope
OMIM:600919	KCNE2	9992	HP:0005110	Atrial fibrillation
OMIM:600919	KCNQ1	3784	HP:0001688	Sinus bradycardia
OMIM:600919	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:600919	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:600919	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:600919	KCNQ1	3784	HP:0001279	Syncope
OMIM:600919	KCNQ1	3784	HP:0005110	Atrial fibrillation
OMIM:600919	KCNE1	3753	HP:0001688	Sinus bradycardia
OMIM:600919	KCNE1	3753	HP:0001645	Sudden cardiac death
OMIM:600919	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:600919	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:600919	KCNE1	3753	HP:0001279	Syncope
OMIM:600919	KCNE1	3753	HP:0005110	Atrial fibrillation
OMIM:600919	KCNH2	3757	HP:0001688	Sinus bradycardia
OMIM:600919	KCNH2	3757	HP:0001645	Sudden cardiac death
OMIM:600919	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:600919	KCNH2	3757	HP:0001657	Prolonged QT interval
OMIM:600919	KCNH2	3757	HP:0001279	Syncope
OMIM:600919	KCNH2	3757	HP:0005110	Atrial fibrillation
OMIM:600919	SNTA1	6640	HP:0001688	Sinus bradycardia
OMIM:600919	SNTA1	6640	HP:0001645	Sudden cardiac death
OMIM:600919	SNTA1	6640	HP:0000006	Autosomal dominant inheritance
OMIM:600919	SNTA1	6640	HP:0001657	Prolonged QT interval
OMIM:600919	SNTA1	6640	HP:0001279	Syncope
OMIM:600919	SNTA1	6640	HP:0005110	Atrial fibrillation
OMIM:600919	KCNJ5	3762	HP:0001688	Sinus bradycardia
OMIM:600919	KCNJ5	3762	HP:0001645	Sudden cardiac death
OMIM:600919	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:600919	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:600919	KCNJ5	3762	HP:0001279	Syncope
OMIM:600919	KCNJ5	3762	HP:0005110	Atrial fibrillation
OMIM:600919	SCN4B	6330	HP:0001688	Sinus bradycardia
OMIM:600919	SCN4B	6330	HP:0001645	Sudden cardiac death
OMIM:600919	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:600919	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:600919	SCN4B	6330	HP:0001279	Syncope
OMIM:600919	SCN4B	6330	HP:0005110	Atrial fibrillation
OMIM:600919	NOS1AP	9722	HP:0001688	Sinus bradycardia
OMIM:600919	NOS1AP	9722	HP:0001645	Sudden cardiac death
OMIM:600919	NOS1AP	9722	HP:0000006	Autosomal dominant inheritance
OMIM:600919	NOS1AP	9722	HP:0001657	Prolonged QT interval
OMIM:600919	NOS1AP	9722	HP:0001279	Syncope
OMIM:600919	NOS1AP	9722	HP:0005110	Atrial fibrillation
OMIM:600919	SCN5A	6331	HP:0001688	Sinus bradycardia
OMIM:600919	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:600919	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:600919	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:600919	SCN5A	6331	HP:0001279	Syncope
OMIM:600919	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:600919	CAV3	859	HP:0001688	Sinus bradycardia
OMIM:600919	CAV3	859	HP:0001645	Sudden cardiac death
OMIM:600919	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:600919	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:600919	CAV3	859	HP:0001279	Syncope
OMIM:600919	CAV3	859	HP:0005110	Atrial fibrillation
OMIM:600919	AKAP9	10142	HP:0001688	Sinus bradycardia
OMIM:600919	AKAP9	10142	HP:0001645	Sudden cardiac death
OMIM:600919	AKAP9	10142	HP:0000006	Autosomal dominant inheritance
OMIM:600919	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:600919	AKAP9	10142	HP:0001279	Syncope
OMIM:600919	AKAP9	10142	HP:0005110	Atrial fibrillation
OMIM:600919	ANK2	287	HP:0001688	Sinus bradycardia
OMIM:600919	ANK2	287	HP:0001645	Sudden cardiac death
OMIM:600919	ANK2	287	HP:0000006	Autosomal dominant inheritance
OMIM:600919	ANK2	287	HP:0001657	Prolonged QT interval
OMIM:600919	ANK2	287	HP:0001279	Syncope
OMIM:600919	ANK2	287	HP:0005110	Atrial fibrillation
OMIM:158350	PTEN	5728	HP:0002816	Genu recurvatum
OMIM:158350	PTEN	5728	HP:0001250	Seizures
OMIM:158350	PTEN	5728	HP:0000157	Abnormality of the tongue
OMIM:158350	PTEN	5728	HP:0100646	Thyroiditis
OMIM:158350	PTEN	5728	HP:0000138	Ovarian cyst
OMIM:158350	PTEN	5728	HP:0100774	Hyperostosis
OMIM:158350	PTEN	5728	HP:0000767	Pectus excavatum
OMIM:158350	PTEN	5728	HP:0000268	Dolichocephaly
OMIM:158350	PTEN	5728	HP:0000327	Hypoplasia of the maxilla
OMIM:158350	PTEN	5728	HP:0200008	Intestinal polyposis
OMIM:158350	PTEN	5728	HP:0000365	Hearing impairment
OMIM:158350	PTEN	5728	HP:0002652	Skeletal dysplasia
OMIM:158350	PTEN	5728	HP:0001249	Intellectual disability
OMIM:158350	PTEN	5728	HP:0001256	Intellectual disability, mild
OMIM:158350	PTEN	5728	HP:0100777	Exostoses
OMIM:158350	PTEN	5728	HP:0001100	Heterochromia iridis
OMIM:158350	PTEN	5728	HP:0002650	Scoliosis
OMIM:158350	PTEN	5728	HP:0000541	Retinal detachment
OMIM:158350	PTEN	5728	HP:0000689	Dental malocclusion
OMIM:158350	PTEN	5728	HP:0000347	Micrognathia
OMIM:158350	PTEN	5728	HP:0001829	Foot polydactyly
OMIM:158350	PTEN	5728	HP:0000160	Narrow mouth
OMIM:158350	PTEN	5728	HP:0000463	Anteverted nares
OMIM:158350	PTEN	5728	HP:0000545	Myopia
OMIM:158350	PTEN	5728	HP:0000256	Macrocephaly
OMIM:158350	PTEN	5728	HP:0000836	Hyperthyroidism
OMIM:158350	PTEN	5728	HP:0000303	Mandibular prognathia
OMIM:158350	PTEN	5728	HP:0002311	Incoordination
OMIM:158350	PTEN	5728	HP:0000518	Cataract
OMIM:158350	PTEN	5728	HP:0004375	Neoplasm of the nervous system
OMIM:158350	PTEN	5728	HP:0000098	Tall stature
OMIM:158350	PTEN	5728	HP:0000828	Abnormality of the parathyroid gland
OMIM:158350	PTEN	5728	HP:0002017	Nausea and vomiting
OMIM:158350	PTEN	5728	HP:0004481	Progressive macrocephaly
OMIM:158350	PTEN	5728	HP:0000615	Abnormality of the pupil
OMIM:158350	PTEN	5728	HP:0000821	Hypothyroidism
OMIM:158350	PTEN	5728	HP:0000995	Melanocytic nevus
OMIM:158350	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:158350	PTEN	5728	HP:0002269	Abnormality of neuronal migration
OMIM:158350	PTEN	5728	HP:0000147	Polycystic ovaries
OMIM:158350	PTEN	5728	HP:0001626	Abnormality of the cardiovascular system
OMIM:158350	PTEN	5728	HP:0003581	Adult onset
OMIM:158350	PTEN	5728	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:158350	PTEN	5728	HP:0010609	Skin tags
OMIM:158350	PTEN	5728	HP:0001102	Angioid streaks of the retina
OMIM:158350	PTEN	5728	HP:0002076	Migraine
OMIM:158350	PTEN	5728	HP:0100543	Cognitive impairment
OMIM:158350	PTEN	5728	HP:0000853	Goiter
OMIM:158350	PTEN	5728	HP:0002808	Kyphosis
OMIM:158350	PTEN	5728	HP:0002253	Colonic diverticula
OMIM:158350	PTEN	5728	HP:0007400	Irregular hyperpigmentation
OMIM:158350	PTEN	5728	HP:0000494	Downslanted palpebral fissures
OMIM:158350	PTEN	5728	HP:0100026	Arteriovenous malformation
OMIM:158350	PTEN	5728	HP:0002858	Meningioma
OMIM:158350	PTEN	5728	HP:0000218	High palate
OMIM:158350	PTEN	5728	HP:0001744	Splenomegaly
OMIM:158350	PTEN	5728	HP:0005293	Venous insufficiency
OMIM:158350	PTEN	5728	HP:0003002	Breast carcinoma
OMIM:158350	KLLN	100144748	HP:0002816	Genu recurvatum
OMIM:158350	KLLN	100144748	HP:0001250	Seizures
OMIM:158350	KLLN	100144748	HP:0000157	Abnormality of the tongue
OMIM:158350	KLLN	100144748	HP:0100646	Thyroiditis
OMIM:158350	KLLN	100144748	HP:0000138	Ovarian cyst
OMIM:158350	KLLN	100144748	HP:0100774	Hyperostosis
OMIM:158350	KLLN	100144748	HP:0000767	Pectus excavatum
OMIM:158350	KLLN	100144748	HP:0000268	Dolichocephaly
OMIM:158350	KLLN	100144748	HP:0000327	Hypoplasia of the maxilla
OMIM:158350	KLLN	100144748	HP:0200008	Intestinal polyposis
OMIM:158350	KLLN	100144748	HP:0000365	Hearing impairment
OMIM:158350	KLLN	100144748	HP:0002652	Skeletal dysplasia
OMIM:158350	KLLN	100144748	HP:0001249	Intellectual disability
OMIM:158350	KLLN	100144748	HP:0001256	Intellectual disability, mild
OMIM:158350	KLLN	100144748	HP:0100777	Exostoses
OMIM:158350	KLLN	100144748	HP:0001100	Heterochromia iridis
OMIM:158350	KLLN	100144748	HP:0002650	Scoliosis
OMIM:158350	KLLN	100144748	HP:0000541	Retinal detachment
OMIM:158350	KLLN	100144748	HP:0000689	Dental malocclusion
OMIM:158350	KLLN	100144748	HP:0000347	Micrognathia
OMIM:158350	KLLN	100144748	HP:0001829	Foot polydactyly
OMIM:158350	KLLN	100144748	HP:0000160	Narrow mouth
OMIM:158350	KLLN	100144748	HP:0000463	Anteverted nares
OMIM:158350	KLLN	100144748	HP:0000545	Myopia
OMIM:158350	KLLN	100144748	HP:0000256	Macrocephaly
OMIM:158350	KLLN	100144748	HP:0000836	Hyperthyroidism
OMIM:158350	KLLN	100144748	HP:0000303	Mandibular prognathia
OMIM:158350	KLLN	100144748	HP:0002311	Incoordination
OMIM:158350	KLLN	100144748	HP:0000518	Cataract
OMIM:158350	KLLN	100144748	HP:0004375	Neoplasm of the nervous system
OMIM:158350	KLLN	100144748	HP:0000098	Tall stature
OMIM:158350	KLLN	100144748	HP:0000828	Abnormality of the parathyroid gland
OMIM:158350	KLLN	100144748	HP:0002017	Nausea and vomiting
OMIM:158350	KLLN	100144748	HP:0004481	Progressive macrocephaly
OMIM:158350	KLLN	100144748	HP:0000615	Abnormality of the pupil
OMIM:158350	KLLN	100144748	HP:0000821	Hypothyroidism
OMIM:158350	KLLN	100144748	HP:0000995	Melanocytic nevus
OMIM:158350	KLLN	100144748	HP:0000006	Autosomal dominant inheritance
OMIM:158350	KLLN	100144748	HP:0002269	Abnormality of neuronal migration
OMIM:158350	KLLN	100144748	HP:0000147	Polycystic ovaries
OMIM:158350	KLLN	100144748	HP:0001626	Abnormality of the cardiovascular system
OMIM:158350	KLLN	100144748	HP:0003581	Adult onset
OMIM:158350	KLLN	100144748	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:158350	KLLN	100144748	HP:0010609	Skin tags
OMIM:158350	KLLN	100144748	HP:0001102	Angioid streaks of the retina
OMIM:158350	KLLN	100144748	HP:0002076	Migraine
OMIM:158350	KLLN	100144748	HP:0100543	Cognitive impairment
OMIM:158350	KLLN	100144748	HP:0000853	Goiter
OMIM:158350	KLLN	100144748	HP:0002808	Kyphosis
OMIM:158350	KLLN	100144748	HP:0002253	Colonic diverticula
OMIM:158350	KLLN	100144748	HP:0007400	Irregular hyperpigmentation
OMIM:158350	KLLN	100144748	HP:0000494	Downslanted palpebral fissures
OMIM:158350	KLLN	100144748	HP:0100026	Arteriovenous malformation
OMIM:158350	KLLN	100144748	HP:0002858	Meningioma
OMIM:158350	KLLN	100144748	HP:0000218	High palate
OMIM:158350	KLLN	100144748	HP:0001744	Splenomegaly
OMIM:158350	KLLN	100144748	HP:0005293	Venous insufficiency
OMIM:158350	KLLN	100144748	HP:0003002	Breast carcinoma
OMIM:158350	SDHB	6390	HP:0002816	Genu recurvatum
OMIM:158350	SDHB	6390	HP:0001250	Seizures
OMIM:158350	SDHB	6390	HP:0000157	Abnormality of the tongue
OMIM:158350	SDHB	6390	HP:0100646	Thyroiditis
OMIM:158350	SDHB	6390	HP:0000138	Ovarian cyst
OMIM:158350	SDHB	6390	HP:0100774	Hyperostosis
OMIM:158350	SDHB	6390	HP:0000767	Pectus excavatum
OMIM:158350	SDHB	6390	HP:0000268	Dolichocephaly
OMIM:158350	SDHB	6390	HP:0000327	Hypoplasia of the maxilla
OMIM:158350	SDHB	6390	HP:0200008	Intestinal polyposis
OMIM:158350	SDHB	6390	HP:0000365	Hearing impairment
OMIM:158350	SDHB	6390	HP:0002652	Skeletal dysplasia
OMIM:158350	SDHB	6390	HP:0001249	Intellectual disability
OMIM:158350	SDHB	6390	HP:0001256	Intellectual disability, mild
OMIM:158350	SDHB	6390	HP:0100777	Exostoses
OMIM:158350	SDHB	6390	HP:0001100	Heterochromia iridis
OMIM:158350	SDHB	6390	HP:0002650	Scoliosis
OMIM:158350	SDHB	6390	HP:0000541	Retinal detachment
OMIM:158350	SDHB	6390	HP:0000689	Dental malocclusion
OMIM:158350	SDHB	6390	HP:0000347	Micrognathia
OMIM:158350	SDHB	6390	HP:0001829	Foot polydactyly
OMIM:158350	SDHB	6390	HP:0000160	Narrow mouth
OMIM:158350	SDHB	6390	HP:0000463	Anteverted nares
OMIM:158350	SDHB	6390	HP:0000545	Myopia
OMIM:158350	SDHB	6390	HP:0000256	Macrocephaly
OMIM:158350	SDHB	6390	HP:0000836	Hyperthyroidism
OMIM:158350	SDHB	6390	HP:0000303	Mandibular prognathia
OMIM:158350	SDHB	6390	HP:0002311	Incoordination
OMIM:158350	SDHB	6390	HP:0000518	Cataract
OMIM:158350	SDHB	6390	HP:0004375	Neoplasm of the nervous system
OMIM:158350	SDHB	6390	HP:0000098	Tall stature
OMIM:158350	SDHB	6390	HP:0000828	Abnormality of the parathyroid gland
OMIM:158350	SDHB	6390	HP:0002017	Nausea and vomiting
OMIM:158350	SDHB	6390	HP:0004481	Progressive macrocephaly
OMIM:158350	SDHB	6390	HP:0000615	Abnormality of the pupil
OMIM:158350	SDHB	6390	HP:0000821	Hypothyroidism
OMIM:158350	SDHB	6390	HP:0000995	Melanocytic nevus
OMIM:158350	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:158350	SDHB	6390	HP:0002269	Abnormality of neuronal migration
OMIM:158350	SDHB	6390	HP:0000147	Polycystic ovaries
OMIM:158350	SDHB	6390	HP:0001626	Abnormality of the cardiovascular system
OMIM:158350	SDHB	6390	HP:0003581	Adult onset
OMIM:158350	SDHB	6390	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:158350	SDHB	6390	HP:0010609	Skin tags
OMIM:158350	SDHB	6390	HP:0001102	Angioid streaks of the retina
OMIM:158350	SDHB	6390	HP:0002076	Migraine
OMIM:158350	SDHB	6390	HP:0100543	Cognitive impairment
OMIM:158350	SDHB	6390	HP:0000853	Goiter
OMIM:158350	SDHB	6390	HP:0002808	Kyphosis
OMIM:158350	SDHB	6390	HP:0002253	Colonic diverticula
OMIM:158350	SDHB	6390	HP:0007400	Irregular hyperpigmentation
OMIM:158350	SDHB	6390	HP:0000494	Downslanted palpebral fissures
OMIM:158350	SDHB	6390	HP:0100026	Arteriovenous malformation
OMIM:158350	SDHB	6390	HP:0002858	Meningioma
OMIM:158350	SDHB	6390	HP:0000218	High palate
OMIM:158350	SDHB	6390	HP:0001744	Splenomegaly
OMIM:158350	SDHB	6390	HP:0005293	Venous insufficiency
OMIM:158350	SDHB	6390	HP:0003002	Breast carcinoma
OMIM:158350	SDHC	6391	HP:0002816	Genu recurvatum
OMIM:158350	SDHC	6391	HP:0001250	Seizures
OMIM:158350	SDHC	6391	HP:0000157	Abnormality of the tongue
OMIM:158350	SDHC	6391	HP:0100646	Thyroiditis
OMIM:158350	SDHC	6391	HP:0000138	Ovarian cyst
OMIM:158350	SDHC	6391	HP:0100774	Hyperostosis
OMIM:158350	SDHC	6391	HP:0000767	Pectus excavatum
OMIM:158350	SDHC	6391	HP:0000268	Dolichocephaly
OMIM:158350	SDHC	6391	HP:0000327	Hypoplasia of the maxilla
OMIM:158350	SDHC	6391	HP:0200008	Intestinal polyposis
OMIM:158350	SDHC	6391	HP:0000365	Hearing impairment
OMIM:158350	SDHC	6391	HP:0002652	Skeletal dysplasia
OMIM:158350	SDHC	6391	HP:0001249	Intellectual disability
OMIM:158350	SDHC	6391	HP:0001256	Intellectual disability, mild
OMIM:158350	SDHC	6391	HP:0100777	Exostoses
OMIM:158350	SDHC	6391	HP:0001100	Heterochromia iridis
OMIM:158350	SDHC	6391	HP:0002650	Scoliosis
OMIM:158350	SDHC	6391	HP:0000541	Retinal detachment
OMIM:158350	SDHC	6391	HP:0000689	Dental malocclusion
OMIM:158350	SDHC	6391	HP:0000347	Micrognathia
OMIM:158350	SDHC	6391	HP:0001829	Foot polydactyly
OMIM:158350	SDHC	6391	HP:0000160	Narrow mouth
OMIM:158350	SDHC	6391	HP:0000463	Anteverted nares
OMIM:158350	SDHC	6391	HP:0000545	Myopia
OMIM:158350	SDHC	6391	HP:0000256	Macrocephaly
OMIM:158350	SDHC	6391	HP:0000836	Hyperthyroidism
OMIM:158350	SDHC	6391	HP:0000303	Mandibular prognathia
OMIM:158350	SDHC	6391	HP:0002311	Incoordination
OMIM:158350	SDHC	6391	HP:0000518	Cataract
OMIM:158350	SDHC	6391	HP:0004375	Neoplasm of the nervous system
OMIM:158350	SDHC	6391	HP:0000098	Tall stature
OMIM:158350	SDHC	6391	HP:0000828	Abnormality of the parathyroid gland
OMIM:158350	SDHC	6391	HP:0002017	Nausea and vomiting
OMIM:158350	SDHC	6391	HP:0004481	Progressive macrocephaly
OMIM:158350	SDHC	6391	HP:0000615	Abnormality of the pupil
OMIM:158350	SDHC	6391	HP:0000821	Hypothyroidism
OMIM:158350	SDHC	6391	HP:0000995	Melanocytic nevus
OMIM:158350	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:158350	SDHC	6391	HP:0002269	Abnormality of neuronal migration
OMIM:158350	SDHC	6391	HP:0000147	Polycystic ovaries
OMIM:158350	SDHC	6391	HP:0001626	Abnormality of the cardiovascular system
OMIM:158350	SDHC	6391	HP:0003581	Adult onset
OMIM:158350	SDHC	6391	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:158350	SDHC	6391	HP:0010609	Skin tags
OMIM:158350	SDHC	6391	HP:0001102	Angioid streaks of the retina
OMIM:158350	SDHC	6391	HP:0002076	Migraine
OMIM:158350	SDHC	6391	HP:0100543	Cognitive impairment
OMIM:158350	SDHC	6391	HP:0000853	Goiter
OMIM:158350	SDHC	6391	HP:0002808	Kyphosis
OMIM:158350	SDHC	6391	HP:0002253	Colonic diverticula
OMIM:158350	SDHC	6391	HP:0007400	Irregular hyperpigmentation
OMIM:158350	SDHC	6391	HP:0000494	Downslanted palpebral fissures
OMIM:158350	SDHC	6391	HP:0100026	Arteriovenous malformation
OMIM:158350	SDHC	6391	HP:0002858	Meningioma
OMIM:158350	SDHC	6391	HP:0000218	High palate
OMIM:158350	SDHC	6391	HP:0001744	Splenomegaly
OMIM:158350	SDHC	6391	HP:0005293	Venous insufficiency
OMIM:158350	SDHC	6391	HP:0003002	Breast carcinoma
OMIM:158350	SDHD	6392	HP:0002816	Genu recurvatum
OMIM:158350	SDHD	6392	HP:0001250	Seizures
OMIM:158350	SDHD	6392	HP:0000157	Abnormality of the tongue
OMIM:158350	SDHD	6392	HP:0100646	Thyroiditis
OMIM:158350	SDHD	6392	HP:0000138	Ovarian cyst
OMIM:158350	SDHD	6392	HP:0100774	Hyperostosis
OMIM:158350	SDHD	6392	HP:0000767	Pectus excavatum
OMIM:158350	SDHD	6392	HP:0000268	Dolichocephaly
OMIM:158350	SDHD	6392	HP:0000327	Hypoplasia of the maxilla
OMIM:158350	SDHD	6392	HP:0200008	Intestinal polyposis
OMIM:158350	SDHD	6392	HP:0000365	Hearing impairment
OMIM:158350	SDHD	6392	HP:0002652	Skeletal dysplasia
OMIM:158350	SDHD	6392	HP:0001249	Intellectual disability
OMIM:158350	SDHD	6392	HP:0001256	Intellectual disability, mild
OMIM:158350	SDHD	6392	HP:0100777	Exostoses
OMIM:158350	SDHD	6392	HP:0001100	Heterochromia iridis
OMIM:158350	SDHD	6392	HP:0002650	Scoliosis
OMIM:158350	SDHD	6392	HP:0000541	Retinal detachment
OMIM:158350	SDHD	6392	HP:0000689	Dental malocclusion
OMIM:158350	SDHD	6392	HP:0000347	Micrognathia
OMIM:158350	SDHD	6392	HP:0001829	Foot polydactyly
OMIM:158350	SDHD	6392	HP:0000160	Narrow mouth
OMIM:158350	SDHD	6392	HP:0000463	Anteverted nares
OMIM:158350	SDHD	6392	HP:0000545	Myopia
OMIM:158350	SDHD	6392	HP:0000256	Macrocephaly
OMIM:158350	SDHD	6392	HP:0000836	Hyperthyroidism
OMIM:158350	SDHD	6392	HP:0000303	Mandibular prognathia
OMIM:158350	SDHD	6392	HP:0002311	Incoordination
OMIM:158350	SDHD	6392	HP:0000518	Cataract
OMIM:158350	SDHD	6392	HP:0004375	Neoplasm of the nervous system
OMIM:158350	SDHD	6392	HP:0000098	Tall stature
OMIM:158350	SDHD	6392	HP:0000828	Abnormality of the parathyroid gland
OMIM:158350	SDHD	6392	HP:0002017	Nausea and vomiting
OMIM:158350	SDHD	6392	HP:0004481	Progressive macrocephaly
OMIM:158350	SDHD	6392	HP:0000615	Abnormality of the pupil
OMIM:158350	SDHD	6392	HP:0000821	Hypothyroidism
OMIM:158350	SDHD	6392	HP:0000995	Melanocytic nevus
OMIM:158350	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:158350	SDHD	6392	HP:0002269	Abnormality of neuronal migration
OMIM:158350	SDHD	6392	HP:0000147	Polycystic ovaries
OMIM:158350	SDHD	6392	HP:0001626	Abnormality of the cardiovascular system
OMIM:158350	SDHD	6392	HP:0003581	Adult onset
OMIM:158350	SDHD	6392	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:158350	SDHD	6392	HP:0010609	Skin tags
OMIM:158350	SDHD	6392	HP:0001102	Angioid streaks of the retina
OMIM:158350	SDHD	6392	HP:0002076	Migraine
OMIM:158350	SDHD	6392	HP:0100543	Cognitive impairment
OMIM:158350	SDHD	6392	HP:0000853	Goiter
OMIM:158350	SDHD	6392	HP:0002808	Kyphosis
OMIM:158350	SDHD	6392	HP:0002253	Colonic diverticula
OMIM:158350	SDHD	6392	HP:0007400	Irregular hyperpigmentation
OMIM:158350	SDHD	6392	HP:0000494	Downslanted palpebral fissures
OMIM:158350	SDHD	6392	HP:0100026	Arteriovenous malformation
OMIM:158350	SDHD	6392	HP:0002858	Meningioma
OMIM:158350	SDHD	6392	HP:0000218	High palate
OMIM:158350	SDHD	6392	HP:0001744	Splenomegaly
OMIM:158350	SDHD	6392	HP:0005293	Venous insufficiency
OMIM:158350	SDHD	6392	HP:0003002	Breast carcinoma
OMIM:158350	PIK3CA	5290	HP:0002816	Genu recurvatum
OMIM:158350	PIK3CA	5290	HP:0001250	Seizures
OMIM:158350	PIK3CA	5290	HP:0000157	Abnormality of the tongue
OMIM:158350	PIK3CA	5290	HP:0100646	Thyroiditis
OMIM:158350	PIK3CA	5290	HP:0000138	Ovarian cyst
OMIM:158350	PIK3CA	5290	HP:0100774	Hyperostosis
OMIM:158350	PIK3CA	5290	HP:0000767	Pectus excavatum
OMIM:158350	PIK3CA	5290	HP:0000268	Dolichocephaly
OMIM:158350	PIK3CA	5290	HP:0000327	Hypoplasia of the maxilla
OMIM:158350	PIK3CA	5290	HP:0200008	Intestinal polyposis
OMIM:158350	PIK3CA	5290	HP:0000365	Hearing impairment
OMIM:158350	PIK3CA	5290	HP:0002652	Skeletal dysplasia
OMIM:158350	PIK3CA	5290	HP:0001249	Intellectual disability
OMIM:158350	PIK3CA	5290	HP:0001256	Intellectual disability, mild
OMIM:158350	PIK3CA	5290	HP:0100777	Exostoses
OMIM:158350	PIK3CA	5290	HP:0001100	Heterochromia iridis
OMIM:158350	PIK3CA	5290	HP:0002650	Scoliosis
OMIM:158350	PIK3CA	5290	HP:0000541	Retinal detachment
OMIM:158350	PIK3CA	5290	HP:0000689	Dental malocclusion
OMIM:158350	PIK3CA	5290	HP:0000347	Micrognathia
OMIM:158350	PIK3CA	5290	HP:0001829	Foot polydactyly
OMIM:158350	PIK3CA	5290	HP:0000160	Narrow mouth
OMIM:158350	PIK3CA	5290	HP:0000463	Anteverted nares
OMIM:158350	PIK3CA	5290	HP:0000545	Myopia
OMIM:158350	PIK3CA	5290	HP:0000256	Macrocephaly
OMIM:158350	PIK3CA	5290	HP:0000836	Hyperthyroidism
OMIM:158350	PIK3CA	5290	HP:0000303	Mandibular prognathia
OMIM:158350	PIK3CA	5290	HP:0002311	Incoordination
OMIM:158350	PIK3CA	5290	HP:0000518	Cataract
OMIM:158350	PIK3CA	5290	HP:0004375	Neoplasm of the nervous system
OMIM:158350	PIK3CA	5290	HP:0000098	Tall stature
OMIM:158350	PIK3CA	5290	HP:0000828	Abnormality of the parathyroid gland
OMIM:158350	PIK3CA	5290	HP:0002017	Nausea and vomiting
OMIM:158350	PIK3CA	5290	HP:0004481	Progressive macrocephaly
OMIM:158350	PIK3CA	5290	HP:0000615	Abnormality of the pupil
OMIM:158350	PIK3CA	5290	HP:0000821	Hypothyroidism
OMIM:158350	PIK3CA	5290	HP:0000995	Melanocytic nevus
OMIM:158350	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:158350	PIK3CA	5290	HP:0002269	Abnormality of neuronal migration
OMIM:158350	PIK3CA	5290	HP:0000147	Polycystic ovaries
OMIM:158350	PIK3CA	5290	HP:0001626	Abnormality of the cardiovascular system
OMIM:158350	PIK3CA	5290	HP:0003581	Adult onset
OMIM:158350	PIK3CA	5290	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:158350	PIK3CA	5290	HP:0010609	Skin tags
OMIM:158350	PIK3CA	5290	HP:0001102	Angioid streaks of the retina
OMIM:158350	PIK3CA	5290	HP:0002076	Migraine
OMIM:158350	PIK3CA	5290	HP:0100543	Cognitive impairment
OMIM:158350	PIK3CA	5290	HP:0000853	Goiter
OMIM:158350	PIK3CA	5290	HP:0002808	Kyphosis
OMIM:158350	PIK3CA	5290	HP:0002253	Colonic diverticula
OMIM:158350	PIK3CA	5290	HP:0007400	Irregular hyperpigmentation
OMIM:158350	PIK3CA	5290	HP:0000494	Downslanted palpebral fissures
OMIM:158350	PIK3CA	5290	HP:0100026	Arteriovenous malformation
OMIM:158350	PIK3CA	5290	HP:0002858	Meningioma
OMIM:158350	PIK3CA	5290	HP:0000218	High palate
OMIM:158350	PIK3CA	5290	HP:0001744	Splenomegaly
OMIM:158350	PIK3CA	5290	HP:0005293	Venous insufficiency
OMIM:158350	PIK3CA	5290	HP:0003002	Breast carcinoma
OMIM:158350	AKT1	207	HP:0002816	Genu recurvatum
OMIM:158350	AKT1	207	HP:0001250	Seizures
OMIM:158350	AKT1	207	HP:0000157	Abnormality of the tongue
OMIM:158350	AKT1	207	HP:0100646	Thyroiditis
OMIM:158350	AKT1	207	HP:0000138	Ovarian cyst
OMIM:158350	AKT1	207	HP:0100774	Hyperostosis
OMIM:158350	AKT1	207	HP:0000767	Pectus excavatum
OMIM:158350	AKT1	207	HP:0000268	Dolichocephaly
OMIM:158350	AKT1	207	HP:0000327	Hypoplasia of the maxilla
OMIM:158350	AKT1	207	HP:0200008	Intestinal polyposis
OMIM:158350	AKT1	207	HP:0000365	Hearing impairment
OMIM:158350	AKT1	207	HP:0002652	Skeletal dysplasia
OMIM:158350	AKT1	207	HP:0001249	Intellectual disability
OMIM:158350	AKT1	207	HP:0001256	Intellectual disability, mild
OMIM:158350	AKT1	207	HP:0100777	Exostoses
OMIM:158350	AKT1	207	HP:0001100	Heterochromia iridis
OMIM:158350	AKT1	207	HP:0002650	Scoliosis
OMIM:158350	AKT1	207	HP:0000541	Retinal detachment
OMIM:158350	AKT1	207	HP:0000689	Dental malocclusion
OMIM:158350	AKT1	207	HP:0000347	Micrognathia
OMIM:158350	AKT1	207	HP:0001829	Foot polydactyly
OMIM:158350	AKT1	207	HP:0000160	Narrow mouth
OMIM:158350	AKT1	207	HP:0000463	Anteverted nares
OMIM:158350	AKT1	207	HP:0000545	Myopia
OMIM:158350	AKT1	207	HP:0000256	Macrocephaly
OMIM:158350	AKT1	207	HP:0000836	Hyperthyroidism
OMIM:158350	AKT1	207	HP:0000303	Mandibular prognathia
OMIM:158350	AKT1	207	HP:0002311	Incoordination
OMIM:158350	AKT1	207	HP:0000518	Cataract
OMIM:158350	AKT1	207	HP:0004375	Neoplasm of the nervous system
OMIM:158350	AKT1	207	HP:0000098	Tall stature
OMIM:158350	AKT1	207	HP:0000828	Abnormality of the parathyroid gland
OMIM:158350	AKT1	207	HP:0002017	Nausea and vomiting
OMIM:158350	AKT1	207	HP:0004481	Progressive macrocephaly
OMIM:158350	AKT1	207	HP:0000615	Abnormality of the pupil
OMIM:158350	AKT1	207	HP:0000821	Hypothyroidism
OMIM:158350	AKT1	207	HP:0000995	Melanocytic nevus
OMIM:158350	AKT1	207	HP:0000006	Autosomal dominant inheritance
OMIM:158350	AKT1	207	HP:0002269	Abnormality of neuronal migration
OMIM:158350	AKT1	207	HP:0000147	Polycystic ovaries
OMIM:158350	AKT1	207	HP:0001626	Abnormality of the cardiovascular system
OMIM:158350	AKT1	207	HP:0003581	Adult onset
OMIM:158350	AKT1	207	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:158350	AKT1	207	HP:0010609	Skin tags
OMIM:158350	AKT1	207	HP:0001102	Angioid streaks of the retina
OMIM:158350	AKT1	207	HP:0002076	Migraine
OMIM:158350	AKT1	207	HP:0100543	Cognitive impairment
OMIM:158350	AKT1	207	HP:0000853	Goiter
OMIM:158350	AKT1	207	HP:0002808	Kyphosis
OMIM:158350	AKT1	207	HP:0002253	Colonic diverticula
OMIM:158350	AKT1	207	HP:0007400	Irregular hyperpigmentation
OMIM:158350	AKT1	207	HP:0000494	Downslanted palpebral fissures
OMIM:158350	AKT1	207	HP:0100026	Arteriovenous malformation
OMIM:158350	AKT1	207	HP:0002858	Meningioma
OMIM:158350	AKT1	207	HP:0000218	High palate
OMIM:158350	AKT1	207	HP:0001744	Splenomegaly
OMIM:158350	AKT1	207	HP:0005293	Venous insufficiency
OMIM:158350	AKT1	207	HP:0003002	Breast carcinoma
OMIM:272460	FLNB	2317	HP:0001376	Limitation of joint mobility
OMIM:272460	FLNB	2317	HP:0000113	Polycystic kidney dysplasia
OMIM:272460	FLNB	2317	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:272460	FLNB	2317	HP:0000175	Cleft palate
OMIM:272460	FLNB	2317	HP:0003307	Hyperlordosis
OMIM:272460	FLNB	2317	HP:0000107	Renal cyst
OMIM:272460	FLNB	2317	HP:0005048	Synostosis of carpal bones
OMIM:272460	FLNB	2317	HP:0000316	Hypertelorism
OMIM:272460	FLNB	2317	HP:0000407	Sensorineural hearing impairment
OMIM:272460	FLNB	2317	HP:0003521	Disproportionate short-trunk short stature
OMIM:272460	FLNB	2317	HP:0008368	Tarsal synostosis
OMIM:272460	FLNB	2317	HP:0009702	Carpal synostosis
OMIM:272460	FLNB	2317	HP:0010306	Short thorax
OMIM:272460	FLNB	2317	HP:0000405	Conductive hearing impairment
OMIM:272460	FLNB	2317	HP:0000455	Broad nasal tip
OMIM:272460	FLNB	2317	HP:0004209	Clinodactyly of the 5th finger
OMIM:272460	FLNB	2317	HP:0000767	Pectus excavatum
OMIM:272460	FLNB	2317	HP:0003196	Short nose
OMIM:272460	FLNB	2317	HP:0002750	Delayed skeletal maturation
OMIM:272460	FLNB	2317	HP:0000007	Autosomal recessive inheritance
OMIM:272460	FLNB	2317	HP:0000470	Short neck
OMIM:272460	FLNB	2317	HP:0002650	Scoliosis
OMIM:272460	FLNB	2317	HP:0000518	Cataract
OMIM:272460	FLNB	2317	HP:0001763	Pes planus
OMIM:272460	FLNB	2317	HP:0003312	Abnormal form of the vertebral bodies
OMIM:272460	FLNB	2317	HP:0002091	Restrictive lung disease
OMIM:272460	FLNB	2317	HP:0000384	Preauricular skin tag
OMIM:272460	FLNB	2317	HP:0003311	Hypoplasia of the odontoid process
OMIM:272460	FLNB	2317	HP:0003422	Vertebral segmentation defect
OMIM:272460	FLNB	2317	HP:0006297	Hypoplasia of dental enamel
ORPHANET:3107	WNT5A	7474	HP:0000592	Blue sclerae
ORPHANET:3107	WNT5A	7474	HP:0003042	Elbow dislocation
ORPHANET:3107	WNT5A	7474	HP:0000343	Long philtrum
ORPHANET:3107	WNT5A	7474	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:3107	WNT5A	7474	HP:0000272	Malar flattening
ORPHANET:3107	WNT5A	7474	HP:0000494	Downslanted palpebral fissures
ORPHANET:3107	WNT5A	7474	HP:0001596	Alopecia
ORPHANET:3107	WNT5A	7474	HP:0004322	Short stature
ORPHANET:3107	WNT5A	7474	HP:0000463	Anteverted nares
ORPHANET:3107	WNT5A	7474	HP:0000256	Macrocephaly
ORPHANET:3107	WNT5A	7474	HP:0000508	Ptosis
ORPHANET:3107	WNT5A	7474	HP:0100627	Displacement of the external urethral meatus
ORPHANET:3107	WNT5A	7474	HP:0006101	Finger syndactyly
ORPHANET:3107	WNT5A	7474	HP:0100543	Cognitive impairment
ORPHANET:3107	WNT5A	7474	HP:0000055	Abnormality of female external genitalia
ORPHANET:3107	WNT5A	7474	HP:0000960	Sacral dimple
ORPHANET:3107	WNT5A	7474	HP:0008736	Hypoplasia of penis
ORPHANET:3107	WNT5A	7474	HP:0002205	Recurrent respiratory infections
ORPHANET:3107	WNT5A	7474	HP:0000767	Pectus excavatum
ORPHANET:3107	WNT5A	7474	HP:0001537	Umbilical hernia
ORPHANET:3107	WNT5A	7474	HP:0000028	Cryptorchidism
ORPHANET:3107	WNT5A	7474	HP:0000689	Dental malocclusion
ORPHANET:3107	WNT5A	7474	HP:0000470	Short neck
ORPHANET:3107	WNT5A	7474	HP:0002650	Scoliosis
ORPHANET:3107	WNT5A	7474	HP:0009804	Reduced number of teeth
ORPHANET:3107	WNT5A	7474	HP:0000174	Abnormality of the palate
ORPHANET:3107	WNT5A	7474	HP:0000202	Oral cleft
ORPHANET:3107	WNT5A	7474	HP:0000768	Pectus carinatum
ORPHANET:3107	WNT5A	7474	HP:0000520	Proptosis
ORPHANET:3107	WNT5A	7474	HP:0100490	Camptodactyly of finger
ORPHANET:3107	WNT5A	7474	HP:0000486	Strabismus
ORPHANET:3107	WNT5A	7474	HP:0003422	Vertebral segmentation defect
ORPHANET:3107	WNT5A	7474	HP:0000322	Short philtrum
ORPHANET:3107	WNT5A	7474	HP:0002714	Downturned corners of mouth
ORPHANET:3107	WNT5A	7474	HP:0000316	Hypertelorism
ORPHANET:3107	WNT5A	7474	HP:0003272	Abnormality of the hip bone
ORPHANET:3107	WNT5A	7474	HP:0000499	Abnormality of the eyelashes
ORPHANET:3107	WNT5A	7474	HP:0003196	Short nose
ORPHANET:3107	WNT5A	7474	HP:0000365	Hearing impairment
ORPHANET:3107	WNT5A	7474	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3107	WNT5A	7474	HP:0002007	Frontal bossing
ORPHANET:3107	WNT5A	7474	HP:0005280	Depressed nasal bridge
ORPHANET:3107	WNT5A	7474	HP:0000286	Epicanthus
ORPHANET:3107	WNT5A	7474	HP:0002983	Micromelia
ORPHANET:3107	WNT5A	7474	HP:0000212	Gingival overgrowth
ORPHANET:3107	WNT5A	7474	HP:0001231	Abnormality of the fingernails
ORPHANET:3107	WNT5A	7474	HP:0001156	Brachydactyly syndrome
ORPHANET:3107	WNT5A	7474	HP:0000347	Micrognathia
ORPHANET:3107	WNT5A	7474	HP:0000582	Upslanted palpebral fissure
ORPHANET:3107	WNT5A	7474	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:3107	DVL1	1855	HP:0000592	Blue sclerae
ORPHANET:3107	DVL1	1855	HP:0003042	Elbow dislocation
ORPHANET:3107	DVL1	1855	HP:0000343	Long philtrum
ORPHANET:3107	DVL1	1855	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:3107	DVL1	1855	HP:0000272	Malar flattening
ORPHANET:3107	DVL1	1855	HP:0000494	Downslanted palpebral fissures
ORPHANET:3107	DVL1	1855	HP:0001596	Alopecia
ORPHANET:3107	DVL1	1855	HP:0004322	Short stature
ORPHANET:3107	DVL1	1855	HP:0000463	Anteverted nares
ORPHANET:3107	DVL1	1855	HP:0000256	Macrocephaly
ORPHANET:3107	DVL1	1855	HP:0000508	Ptosis
ORPHANET:3107	DVL1	1855	HP:0100627	Displacement of the external urethral meatus
ORPHANET:3107	DVL1	1855	HP:0006101	Finger syndactyly
ORPHANET:3107	DVL1	1855	HP:0100543	Cognitive impairment
ORPHANET:3107	DVL1	1855	HP:0000055	Abnormality of female external genitalia
ORPHANET:3107	DVL1	1855	HP:0000960	Sacral dimple
ORPHANET:3107	DVL1	1855	HP:0008736	Hypoplasia of penis
ORPHANET:3107	DVL1	1855	HP:0002205	Recurrent respiratory infections
ORPHANET:3107	DVL1	1855	HP:0000767	Pectus excavatum
ORPHANET:3107	DVL1	1855	HP:0001537	Umbilical hernia
ORPHANET:3107	DVL1	1855	HP:0000028	Cryptorchidism
ORPHANET:3107	DVL1	1855	HP:0000689	Dental malocclusion
ORPHANET:3107	DVL1	1855	HP:0000470	Short neck
ORPHANET:3107	DVL1	1855	HP:0002650	Scoliosis
ORPHANET:3107	DVL1	1855	HP:0009804	Reduced number of teeth
ORPHANET:3107	DVL1	1855	HP:0000174	Abnormality of the palate
ORPHANET:3107	DVL1	1855	HP:0000202	Oral cleft
ORPHANET:3107	DVL1	1855	HP:0000768	Pectus carinatum
ORPHANET:3107	DVL1	1855	HP:0000520	Proptosis
ORPHANET:3107	DVL1	1855	HP:0100490	Camptodactyly of finger
ORPHANET:3107	DVL1	1855	HP:0000486	Strabismus
ORPHANET:3107	DVL1	1855	HP:0003422	Vertebral segmentation defect
ORPHANET:3107	DVL1	1855	HP:0000322	Short philtrum
ORPHANET:3107	DVL1	1855	HP:0002714	Downturned corners of mouth
ORPHANET:3107	DVL1	1855	HP:0000316	Hypertelorism
ORPHANET:3107	DVL1	1855	HP:0003272	Abnormality of the hip bone
ORPHANET:3107	DVL1	1855	HP:0000499	Abnormality of the eyelashes
ORPHANET:3107	DVL1	1855	HP:0003196	Short nose
ORPHANET:3107	DVL1	1855	HP:0000365	Hearing impairment
ORPHANET:3107	DVL1	1855	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3107	DVL1	1855	HP:0002007	Frontal bossing
ORPHANET:3107	DVL1	1855	HP:0005280	Depressed nasal bridge
ORPHANET:3107	DVL1	1855	HP:0000286	Epicanthus
ORPHANET:3107	DVL1	1855	HP:0002983	Micromelia
ORPHANET:3107	DVL1	1855	HP:0000212	Gingival overgrowth
ORPHANET:3107	DVL1	1855	HP:0001231	Abnormality of the fingernails
ORPHANET:3107	DVL1	1855	HP:0001156	Brachydactyly syndrome
ORPHANET:3107	DVL1	1855	HP:0000347	Micrognathia
ORPHANET:3107	DVL1	1855	HP:0000582	Upslanted palpebral fissure
ORPHANET:3107	DVL1	1855	HP:0004209	Clinodactyly of the 5th finger
OMIM:188740	SHH	6469	HP:0006101	Finger syndactyly
OMIM:188740	SHH	6469	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:188740	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:188740	SHH	6469	HP:0006443	Patellar aplasia
OMIM:188740	SHH	6469	HP:0004322	Short stature
OMIM:188740	SHH	6469	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:188740	SHH	6469	HP:0001376	Limitation of joint mobility
OMIM:188740	SHH	6469	HP:0004209	Clinodactyly of the 5th finger
OMIM:188740	SHH	6469	HP:0000366	Abnormality of the nose
OMIM:188740	SHH	6469	HP:0001162	Postaxial hand polydactyly
OMIM:188740	SHH	6469	HP:0100490	Camptodactyly of finger
OMIM:188740	SHH	6469	HP:0001199	Triphalangeal thumb
OMIM:188740	SHH	6469	HP:0002992	Abnormality of the tibia
OMIM:188740	SHH	6469	HP:0006487	Bowing of the long bones
OMIM:188740	SHH	6469	HP:0005048	Synostosis of carpal bones
OMIM:188740	SHH	6469	HP:0001161	Hand polydactyly
OMIM:188740	SHH	6469	HP:0002991	Abnormality of the fibula
OMIM:188740	SHH	6469	HP:0001177	Preaxial hand polydactyly
OMIM:188740	LMBR1	64327	HP:0006101	Finger syndactyly
OMIM:188740	LMBR1	64327	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:188740	LMBR1	64327	HP:0000006	Autosomal dominant inheritance
OMIM:188740	LMBR1	64327	HP:0006443	Patellar aplasia
OMIM:188740	LMBR1	64327	HP:0004322	Short stature
OMIM:188740	LMBR1	64327	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:188740	LMBR1	64327	HP:0001376	Limitation of joint mobility
OMIM:188740	LMBR1	64327	HP:0004209	Clinodactyly of the 5th finger
OMIM:188740	LMBR1	64327	HP:0000366	Abnormality of the nose
OMIM:188740	LMBR1	64327	HP:0001162	Postaxial hand polydactyly
OMIM:188740	LMBR1	64327	HP:0100490	Camptodactyly of finger
OMIM:188740	LMBR1	64327	HP:0001199	Triphalangeal thumb
OMIM:188740	LMBR1	64327	HP:0002992	Abnormality of the tibia
OMIM:188740	LMBR1	64327	HP:0006487	Bowing of the long bones
OMIM:188740	LMBR1	64327	HP:0005048	Synostosis of carpal bones
OMIM:188740	LMBR1	64327	HP:0001161	Hand polydactyly
OMIM:188740	LMBR1	64327	HP:0002991	Abnormality of the fibula
OMIM:188740	LMBR1	64327	HP:0001177	Preaxial hand polydactyly
OMIM:614654	COQ9	57017	HP:0001250	Seizures
OMIM:614654	COQ9	57017	HP:0001347	Hyperreflexia
OMIM:614654	COQ9	57017	HP:0002151	Increased serum lactate
OMIM:614654	COQ9	57017	HP:0000007	Autosomal recessive inheritance
OMIM:614654	COQ9	57017	HP:0001252	Muscular hypotonia
OMIM:614654	COQ9	57017	HP:0002059	Cerebral atrophy
OMIM:614654	COQ9	57017	HP:0003128	Lactic acidosis
OMIM:614654	COQ9	57017	HP:0001712	Left ventricular hypertrophy
OMIM:614654	COQ9	57017	HP:0001272	Cerebellar atrophy
OMIM:614654	COQ9	57017	HP:0001263	Global developmental delay
OMIM:614654	COQ9	57017	HP:0011968	Feeding difficulties
OMIM:614654	COQ9	57017	HP:0005484	Postnatal microcephaly
OMIM:186960	TCL1A	8115	HP:0001909	Leukemia
OMIM:613456	ALX1	8092	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613456	ALX1	8092	HP:0001249	Intellectual disability
OMIM:613456	ALX1	8092	HP:0000430	Underdeveloped nasal alae
OMIM:613456	ALX1	8092	HP:0000248	Brachycephaly
OMIM:613456	ALX1	8092	HP:0002006	Facial cleft
OMIM:613456	ALX1	8092	HP:0000316	Hypertelorism
OMIM:613456	ALX1	8092	HP:0000175	Cleft palate
OMIM:613456	ALX1	8092	HP:0000431	Wide nasal bridge
OMIM:613456	ALX1	8092	HP:0000653	Sparse eyelashes
OMIM:613456	ALX1	8092	HP:0000007	Autosomal recessive inheritance
OMIM:613456	ALX1	8092	HP:0000568	Microphthalmia
OMIM:613818	DAG1	1605	HP:0002938	Lumbar hyperlordosis
OMIM:613818	DAG1	1605	HP:0003325	Limb-girdle muscle weakness
OMIM:613818	DAG1	1605	HP:0003391	Gowers sign
OMIM:613818	DAG1	1605	HP:0001263	Global developmental delay
OMIM:613818	DAG1	1605	HP:0001249	Intellectual disability
OMIM:613818	DAG1	1605	HP:0006466	Ankle contracture
OMIM:613818	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:613818	DAG1	1605	HP:0000750	Delayed speech and language development
OMIM:613818	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:613818	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:146110	PROK2	60675	HP:0000789	Infertility
OMIM:146110	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:146110	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	PROK2	60675	HP:0008734	Decreased testicular size
OMIM:146110	PROK2	60675	HP:0000054	Micropenis
OMIM:146110	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:146110	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:146110	PROK2	60675	HP:0002215	Sparse axillary hair
OMIM:146110	PROKR2	128674	HP:0000789	Infertility
OMIM:146110	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:146110	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	PROKR2	128674	HP:0008734	Decreased testicular size
OMIM:146110	PROKR2	128674	HP:0000054	Micropenis
OMIM:146110	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:146110	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:146110	PROKR2	128674	HP:0002215	Sparse axillary hair
OMIM:146110	WDR11	55717	HP:0000789	Infertility
OMIM:146110	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:146110	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	WDR11	55717	HP:0008734	Decreased testicular size
OMIM:146110	WDR11	55717	HP:0000054	Micropenis
OMIM:146110	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:146110	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:146110	WDR11	55717	HP:0002215	Sparse axillary hair
OMIM:146110	KISS1	3814	HP:0000789	Infertility
OMIM:146110	KISS1	3814	HP:0000028	Cryptorchidism
OMIM:146110	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	KISS1	3814	HP:0008734	Decreased testicular size
OMIM:146110	KISS1	3814	HP:0000054	Micropenis
OMIM:146110	KISS1	3814	HP:0000006	Autosomal dominant inheritance
OMIM:146110	KISS1	3814	HP:0000786	Primary amenorrhea
OMIM:146110	KISS1	3814	HP:0002215	Sparse axillary hair
OMIM:146110	GNRH1	2796	HP:0000789	Infertility
OMIM:146110	GNRH1	2796	HP:0000028	Cryptorchidism
OMIM:146110	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	GNRH1	2796	HP:0008734	Decreased testicular size
OMIM:146110	GNRH1	2796	HP:0000054	Micropenis
OMIM:146110	GNRH1	2796	HP:0000006	Autosomal dominant inheritance
OMIM:146110	GNRH1	2796	HP:0000786	Primary amenorrhea
OMIM:146110	GNRH1	2796	HP:0002215	Sparse axillary hair
OMIM:146110	FGF8	2253	HP:0000789	Infertility
OMIM:146110	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:146110	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	FGF8	2253	HP:0008734	Decreased testicular size
OMIM:146110	FGF8	2253	HP:0000054	Micropenis
OMIM:146110	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:146110	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:146110	FGF8	2253	HP:0002215	Sparse axillary hair
OMIM:146110	GNRHR	2798	HP:0000789	Infertility
OMIM:146110	GNRHR	2798	HP:0000028	Cryptorchidism
OMIM:146110	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	GNRHR	2798	HP:0008734	Decreased testicular size
OMIM:146110	GNRHR	2798	HP:0000054	Micropenis
OMIM:146110	GNRHR	2798	HP:0000006	Autosomal dominant inheritance
OMIM:146110	GNRHR	2798	HP:0000786	Primary amenorrhea
OMIM:146110	GNRHR	2798	HP:0002215	Sparse axillary hair
OMIM:146110	ANOS1	3730	HP:0000789	Infertility
OMIM:146110	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:146110	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	ANOS1	3730	HP:0008734	Decreased testicular size
OMIM:146110	ANOS1	3730	HP:0000054	Micropenis
OMIM:146110	ANOS1	3730	HP:0000006	Autosomal dominant inheritance
OMIM:146110	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:146110	ANOS1	3730	HP:0002215	Sparse axillary hair
OMIM:146110	TAC3	6866	HP:0000789	Infertility
OMIM:146110	TAC3	6866	HP:0000028	Cryptorchidism
OMIM:146110	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	TAC3	6866	HP:0008734	Decreased testicular size
OMIM:146110	TAC3	6866	HP:0000054	Micropenis
OMIM:146110	TAC3	6866	HP:0000006	Autosomal dominant inheritance
OMIM:146110	TAC3	6866	HP:0000786	Primary amenorrhea
OMIM:146110	TAC3	6866	HP:0002215	Sparse axillary hair
OMIM:146110	HS6ST1	9394	HP:0000789	Infertility
OMIM:146110	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:146110	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	HS6ST1	9394	HP:0008734	Decreased testicular size
OMIM:146110	HS6ST1	9394	HP:0000054	Micropenis
OMIM:146110	HS6ST1	9394	HP:0000006	Autosomal dominant inheritance
OMIM:146110	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:146110	HS6ST1	9394	HP:0002215	Sparse axillary hair
OMIM:146110	CHD7	55636	HP:0000789	Infertility
OMIM:146110	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:146110	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	CHD7	55636	HP:0008734	Decreased testicular size
OMIM:146110	CHD7	55636	HP:0000054	Micropenis
OMIM:146110	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:146110	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:146110	CHD7	55636	HP:0002215	Sparse axillary hair
OMIM:146110	FGFR1	2260	HP:0000789	Infertility
OMIM:146110	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:146110	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	FGFR1	2260	HP:0008734	Decreased testicular size
OMIM:146110	FGFR1	2260	HP:0000054	Micropenis
OMIM:146110	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:146110	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:146110	FGFR1	2260	HP:0002215	Sparse axillary hair
OMIM:146110	TACR3	6870	HP:0000789	Infertility
OMIM:146110	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:146110	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	TACR3	6870	HP:0008734	Decreased testicular size
OMIM:146110	TACR3	6870	HP:0000054	Micropenis
OMIM:146110	TACR3	6870	HP:0000006	Autosomal dominant inheritance
OMIM:146110	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:146110	TACR3	6870	HP:0002215	Sparse axillary hair
OMIM:146110	FGF17	8822	HP:0000789	Infertility
OMIM:146110	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:146110	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	FGF17	8822	HP:0008734	Decreased testicular size
OMIM:146110	FGF17	8822	HP:0000054	Micropenis
OMIM:146110	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:146110	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:146110	FGF17	8822	HP:0002215	Sparse axillary hair
OMIM:146110	DUSP6	1848	HP:0000789	Infertility
OMIM:146110	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:146110	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	DUSP6	1848	HP:0008734	Decreased testicular size
OMIM:146110	DUSP6	1848	HP:0000054	Micropenis
OMIM:146110	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:146110	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:146110	DUSP6	1848	HP:0002215	Sparse axillary hair
OMIM:146110	SPRY4	81848	HP:0000789	Infertility
OMIM:146110	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:146110	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	SPRY4	81848	HP:0008734	Decreased testicular size
OMIM:146110	SPRY4	81848	HP:0000054	Micropenis
OMIM:146110	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:146110	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:146110	SPRY4	81848	HP:0002215	Sparse axillary hair
OMIM:146110	KISS1R	84634	HP:0000789	Infertility
OMIM:146110	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:146110	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	KISS1R	84634	HP:0008734	Decreased testicular size
OMIM:146110	KISS1R	84634	HP:0000054	Micropenis
OMIM:146110	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:146110	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:146110	KISS1R	84634	HP:0002215	Sparse axillary hair
OMIM:146110	NSMF	26012	HP:0000789	Infertility
OMIM:146110	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:146110	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:146110	NSMF	26012	HP:0008734	Decreased testicular size
OMIM:146110	NSMF	26012	HP:0000054	Micropenis
OMIM:146110	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:146110	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:146110	NSMF	26012	HP:0002215	Sparse axillary hair
OMIM:612337	ZBTB18	10472	HP:0005280	Depressed nasal bridge
OMIM:612337	ZBTB18	10472	HP:0000377	Abnormality of the pinna
OMIM:612337	ZBTB18	10472	HP:0000219	Thin upper lip vermilion
OMIM:612337	ZBTB18	10472	HP:0000319	Smooth philtrum
OMIM:612337	ZBTB18	10472	HP:0000286	Epicanthus
OMIM:612337	ZBTB18	10472	HP:0000316	Hypertelorism
OMIM:612337	ZBTB18	10472	HP:0001249	Intellectual disability
OMIM:612337	ZBTB18	10472	HP:0003828	Variable expressivity
OMIM:612337	ZBTB18	10472	HP:0004322	Short stature
OMIM:612337	ZBTB18	10472	HP:0000347	Micrognathia
OMIM:612337	ZBTB18	10472	HP:0011220	Prominent forehead
OMIM:612337	ZBTB18	10472	HP:0000369	Low-set ears
OMIM:612337	ZBTB18	10472	HP:0000252	Microcephaly
OMIM:612337	ZBTB18	10472	HP:0001252	Muscular hypotonia
OMIM:612337	ZBTB18	10472	HP:0000311	Round face
OMIM:612337	ZBTB18	10472	HP:0000006	Autosomal dominant inheritance
OMIM:612337	ZBTB18	10472	HP:0001274	Agenesis of corpus callosum
OMIM:612337	ZBTB18	10472	HP:0001250	Seizures
OMIM:309500	PQBP1	10084	HP:0000276	Long face
OMIM:309500	PQBP1	10084	HP:0000303	Mandibular prognathia
OMIM:309500	PQBP1	10084	HP:0000365	Hearing impairment
OMIM:309500	PQBP1	10084	HP:0008070	Sparse hair
OMIM:309500	PQBP1	10084	HP:0010719	Abnormality of hair texture
OMIM:309500	PQBP1	10084	HP:0001376	Limitation of joint mobility
OMIM:309500	PQBP1	10084	HP:0000739	Anxiety
OMIM:309500	PQBP1	10084	HP:0003202	Skeletal muscle atrophy
OMIM:309500	PQBP1	10084	HP:0011362	Abnormal hair quantity
OMIM:309500	PQBP1	10084	HP:0001172	Abnormality of the thumb
OMIM:309500	PQBP1	10084	HP:0001250	Seizures
OMIM:309500	PQBP1	10084	HP:0004325	Decreased body weight
OMIM:309500	PQBP1	10084	HP:0000411	Protruding ear
OMIM:309500	PQBP1	10084	HP:0000767	Pectus excavatum
OMIM:309500	PQBP1	10084	HP:0004209	Clinodactyly of the 5th finger
OMIM:309500	PQBP1	10084	HP:0000035	Abnormality of the testis
OMIM:309500	PQBP1	10084	HP:0000486	Strabismus
OMIM:309500	PQBP1	10084	HP:0001761	Pes cavus
OMIM:309500	PQBP1	10084	HP:0000400	Macrotia
OMIM:309500	PQBP1	10084	HP:0001629	Ventricular septal defect
OMIM:309500	PQBP1	10084	HP:0001786	Narrow foot
OMIM:309500	PQBP1	10084	HP:0100627	Displacement of the external urethral meatus
OMIM:309500	PQBP1	10084	HP:0000347	Micrognathia
OMIM:309500	PQBP1	10084	HP:0000252	Microcephaly
OMIM:309500	PQBP1	10084	HP:0001696	Situs inversus totalis
OMIM:309500	PQBP1	10084	HP:0002059	Cerebral atrophy
OMIM:309500	PQBP1	10084	HP:0000047	Hypospadias
OMIM:309500	PQBP1	10084	HP:0009473	Joint contracture of the hand
OMIM:309500	PQBP1	10084	HP:0001276	Hypertonia
OMIM:309500	PQBP1	10084	HP:0012385	Camptodactyly
OMIM:309500	PQBP1	10084	HP:0000175	Cleft palate
OMIM:309500	PQBP1	10084	HP:0000286	Epicanthus
OMIM:309500	PQBP1	10084	HP:0000540	Hypermetropia
OMIM:309500	PQBP1	10084	HP:0000325	Triangular face
OMIM:309500	PQBP1	10084	HP:0000582	Upslanted palpebral fissure
OMIM:309500	PQBP1	10084	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:309500	PQBP1	10084	HP:0002033	Poor suck
OMIM:309500	PQBP1	10084	HP:0002023	Anal atresia
OMIM:309500	PQBP1	10084	HP:0000407	Sensorineural hearing impairment
OMIM:309500	PQBP1	10084	HP:0000431	Wide nasal bridge
OMIM:309500	PQBP1	10084	HP:0000275	Narrow face
OMIM:309500	PQBP1	10084	HP:0000414	Bulbous nose
OMIM:309500	PQBP1	10084	HP:0001636	Tetralogy of Fallot
OMIM:309500	PQBP1	10084	HP:0000819	Diabetes mellitus
OMIM:309500	PQBP1	10084	HP:0100589	Urogenital fistula
OMIM:309500	PQBP1	10084	HP:0005338	Sparse lateral eyebrow
OMIM:309500	PQBP1	10084	HP:0000618	Blindness
OMIM:309500	PQBP1	10084	HP:0004322	Short stature
OMIM:309500	PQBP1	10084	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:309500	PQBP1	10084	HP:0000322	Short philtrum
OMIM:309500	PQBP1	10084	HP:0000568	Microphthalmia
OMIM:309500	PQBP1	10084	HP:0001631	Atria septal defect
OMIM:309500	PQBP1	10084	HP:0001572	Macrodontia
OMIM:309500	PQBP1	10084	HP:0000518	Cataract
OMIM:309500	PQBP1	10084	HP:0001611	Nasal speech
OMIM:309500	PQBP1	10084	HP:0001419	X-linked recessive inheritance
OMIM:309500	PQBP1	10084	HP:0000272	Malar flattening
OMIM:309500	PQBP1	10084	HP:0000218	High palate
OMIM:309500	PQBP1	10084	HP:0100830	Round ear
OMIM:309500	PQBP1	10084	HP:0100543	Cognitive impairment
OMIM:309500	PQBP1	10084	HP:0003363	Abdominal situs inversus
OMIM:309500	PQBP1	10084	HP:0008734	Decreased testicular size
OMIM:309500	PQBP1	10084	HP:0000089	Renal hypoplasia
OMIM:309500	PQBP1	10084	HP:0001347	Hyperreflexia
OMIM:309500	PQBP1	10084	HP:0010761	Broad columella
OMIM:309500	PQBP1	10084	HP:0000378	Cupped ear
OMIM:309500	PQBP1	10084	HP:0005105	Abnormal nasal morphology
OMIM:309500	PQBP1	10084	HP:0001547	Abnormality of the rib cage
OMIM:309500	PQBP1	10084	HP:0002650	Scoliosis
OMIM:309500	PQBP1	10084	HP:0000589	Coloboma
OMIM:309500	PQBP1	10084	HP:0000160	Narrow mouth
OMIM:309500	PQBP1	10084	HP:0000612	Iris coloboma
OMIM:309500	PQBP1	10084	HP:0000248	Brachycephaly
OMIM:309500	PQBP1	10084	HP:0001249	Intellectual disability
OMIM:309500	PQBP1	10084	HP:0001257	Spasticity
OMIM:309500	PQBP1	10084	HP:0000219	Thin upper lip vermilion
OMIM:309500	PQBP1	10084	HP:0000912	Sprengel anomaly
OMIM:309500	PQBP1	10084	HP:0002648	Abnormality of calvarial morphology
OMIM:309500	PQBP1	10084	HP:0001741	Phimosis
OMIM:615490	TRIM2	23321	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:615490	TRIM2	23321	HP:0001762	Talipes equinovarus
OMIM:615490	TRIM2	23321	HP:0001324	Muscle weakness
OMIM:615490	TRIM2	23321	HP:0003477	Peripheral axonal neuropathy
OMIM:615490	TRIM2	23321	HP:0001761	Pes cavus
OMIM:615490	TRIM2	23321	HP:0001290	Generalized hypotonia
OMIM:615490	TRIM2	23321	HP:0001284	Areflexia
OMIM:615490	TRIM2	23321	HP:0000007	Autosomal recessive inheritance
OMIM:610756	ERCC1	2067	HP:0001838	Rocker bottom foot
OMIM:610756	ERCC1	2067	HP:0000007	Autosomal recessive inheritance
OMIM:610756	ERCC1	2067	HP:0100490	Camptodactyly of finger
OMIM:610756	ERCC1	2067	HP:0000046	Scrotal hypoplasia
OMIM:610756	ERCC1	2067	HP:0000992	Cutaneous photosensitivity
OMIM:610756	ERCC1	2067	HP:0000518	Cataract
OMIM:610756	ERCC1	2067	HP:0001263	Global developmental delay
OMIM:610756	ERCC1	2067	HP:0001511	Intrauterine growth retardation
OMIM:610756	ERCC1	2067	HP:0003819	Death in childhood
OMIM:610756	ERCC1	2067	HP:0003683	Large beaked nose
OMIM:610756	ERCC1	2067	HP:0000347	Micrognathia
OMIM:610756	ERCC1	2067	HP:0000490	Deeply set eye
OMIM:610756	ERCC1	2067	HP:0000252	Microcephaly
OMIM:610756	ERCC1	2067	HP:0000365	Hearing impairment
OMIM:610756	ERCC1	2067	HP:0002751	Kyphoscoliosis
OMIM:610756	ERCC1	2067	HP:0000054	Micropenis
OMIM:610756	ERCC1	2067	HP:0000568	Microphthalmia
OMIM:610756	ERCC2	2068	HP:0001838	Rocker bottom foot
OMIM:610756	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:610756	ERCC2	2068	HP:0100490	Camptodactyly of finger
OMIM:610756	ERCC2	2068	HP:0000046	Scrotal hypoplasia
OMIM:610756	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
OMIM:610756	ERCC2	2068	HP:0000518	Cataract
OMIM:610756	ERCC2	2068	HP:0001263	Global developmental delay
OMIM:610756	ERCC2	2068	HP:0001511	Intrauterine growth retardation
OMIM:610756	ERCC2	2068	HP:0003819	Death in childhood
OMIM:610756	ERCC2	2068	HP:0003683	Large beaked nose
OMIM:610756	ERCC2	2068	HP:0000347	Micrognathia
OMIM:610756	ERCC2	2068	HP:0000490	Deeply set eye
OMIM:610756	ERCC2	2068	HP:0000252	Microcephaly
OMIM:610756	ERCC2	2068	HP:0000365	Hearing impairment
OMIM:610756	ERCC2	2068	HP:0002751	Kyphoscoliosis
OMIM:610756	ERCC2	2068	HP:0000054	Micropenis
OMIM:610756	ERCC2	2068	HP:0000568	Microphthalmia
OMIM:610756	ERCC5	2073	HP:0001838	Rocker bottom foot
OMIM:610756	ERCC5	2073	HP:0000007	Autosomal recessive inheritance
OMIM:610756	ERCC5	2073	HP:0100490	Camptodactyly of finger
OMIM:610756	ERCC5	2073	HP:0000046	Scrotal hypoplasia
OMIM:610756	ERCC5	2073	HP:0000992	Cutaneous photosensitivity
OMIM:610756	ERCC5	2073	HP:0000518	Cataract
OMIM:610756	ERCC5	2073	HP:0001263	Global developmental delay
OMIM:610756	ERCC5	2073	HP:0001511	Intrauterine growth retardation
OMIM:610756	ERCC5	2073	HP:0003819	Death in childhood
OMIM:610756	ERCC5	2073	HP:0003683	Large beaked nose
OMIM:610756	ERCC5	2073	HP:0000347	Micrognathia
OMIM:610756	ERCC5	2073	HP:0000490	Deeply set eye
OMIM:610756	ERCC5	2073	HP:0000252	Microcephaly
OMIM:610756	ERCC5	2073	HP:0000365	Hearing impairment
OMIM:610756	ERCC5	2073	HP:0002751	Kyphoscoliosis
OMIM:610756	ERCC5	2073	HP:0000054	Micropenis
OMIM:610756	ERCC5	2073	HP:0000568	Microphthalmia
OMIM:610756	ERCC6	2074	HP:0001838	Rocker bottom foot
OMIM:610756	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:610756	ERCC6	2074	HP:0100490	Camptodactyly of finger
OMIM:610756	ERCC6	2074	HP:0000046	Scrotal hypoplasia
OMIM:610756	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:610756	ERCC6	2074	HP:0000518	Cataract
OMIM:610756	ERCC6	2074	HP:0001263	Global developmental delay
OMIM:610756	ERCC6	2074	HP:0001511	Intrauterine growth retardation
OMIM:610756	ERCC6	2074	HP:0003819	Death in childhood
OMIM:610756	ERCC6	2074	HP:0003683	Large beaked nose
OMIM:610756	ERCC6	2074	HP:0000347	Micrognathia
OMIM:610756	ERCC6	2074	HP:0000490	Deeply set eye
OMIM:610756	ERCC6	2074	HP:0000252	Microcephaly
OMIM:610756	ERCC6	2074	HP:0000365	Hearing impairment
OMIM:610756	ERCC6	2074	HP:0002751	Kyphoscoliosis
OMIM:610756	ERCC6	2074	HP:0000054	Micropenis
OMIM:610756	ERCC6	2074	HP:0000568	Microphthalmia
OMIM:614292	LRPAP1	4043	HP:0200071	Peripheral vitreoretinal degeneration
OMIM:614292	LRPAP1	4043	HP:0011003	Severe Myopia
OMIM:614292	LRPAP1	4043	HP:0000007	Autosomal recessive inheritance
OMIM:614292	LRPAP1	4043	HP:0001132	Lens subluxation
OMIM:614292	LRPAP1	4043	HP:0000518	Cataract
OMIM:614292	LRPAP1	4043	HP:0000541	Retinal detachment
OMIM:614292	SCO2	9997	HP:0200071	Peripheral vitreoretinal degeneration
OMIM:614292	SCO2	9997	HP:0011003	Severe Myopia
OMIM:614292	SCO2	9997	HP:0000007	Autosomal recessive inheritance
OMIM:614292	SCO2	9997	HP:0001132	Lens subluxation
OMIM:614292	SCO2	9997	HP:0000518	Cataract
OMIM:614292	SCO2	9997	HP:0000541	Retinal detachment
OMIM:614292	P3H2	55214	HP:0200071	Peripheral vitreoretinal degeneration
OMIM:614292	P3H2	55214	HP:0011003	Severe Myopia
OMIM:614292	P3H2	55214	HP:0000007	Autosomal recessive inheritance
OMIM:614292	P3H2	55214	HP:0001132	Lens subluxation
OMIM:614292	P3H2	55214	HP:0000518	Cataract
OMIM:614292	P3H2	55214	HP:0000541	Retinal detachment
OMIM:156510	RUNX2	860	HP:0004322	Short stature
OMIM:156510	RUNX2	860	HP:0002120	Cerebral cortical atrophy
OMIM:156510	RUNX2	860	HP:0000322	Short philtrum
OMIM:156510	RUNX2	860	HP:0100255	Metaphyseal dysplasia
OMIM:156510	RUNX2	860	HP:0003015	Flared metaphysis
OMIM:156510	RUNX2	860	HP:0000926	Platyspondyly
OMIM:156510	RUNX2	860	HP:0003063	Abnormality of the humerus
OMIM:156510	RUNX2	860	HP:0000444	Convex nasal ridge
OMIM:156510	RUNX2	860	HP:0000327	Hypoplasia of the maxilla
OMIM:156510	RUNX2	860	HP:0100490	Camptodactyly of finger
OMIM:156510	RUNX2	860	HP:0001156	Brachydactyly syndrome
OMIM:156510	RUNX2	860	HP:0002823	Abnormality of the femur
OMIM:156510	RUNX2	860	HP:0004349	Reduced bone mineral density
OMIM:156510	RUNX2	860	HP:0004493	Craniofacial hyperostosis
OMIM:156510	RUNX2	860	HP:0000006	Autosomal dominant inheritance
OMIM:156510	RUNX2	860	HP:0000233	Thin vermilion border
OMIM:156510	RUNX2	860	HP:0003312	Abnormal form of the vertebral bodies
OMIM:156510	RUNX2	860	HP:0002757	Recurrent fractures
OMIM:156510	RUNX2	860	HP:0000347	Micrognathia
OMIM:156510	RUNX2	860	HP:0004220	Short middle phalanx of the 5th finger
OMIM:615363	ESR1	2099	HP:0000007	Autosomal recessive inheritance
OMIM:615363	ESR1	2099	HP:0000786	Primary amenorrhea
OMIM:615363	ESR1	2099	HP:0000938	Osteopenia
OMIM:611465	ABCG8	64241	HP:0010982	Polygenic inheritance
OMIM:611465	ABCG8	64241	HP:0001081	Cholelithiasis
OMIM:615725	RLBP1	6017	HP:0001123	Visual field defect
OMIM:615725	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:615725	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:615725	RLBP1	6017	HP:0001105	Retinal atrophy
OMIM:615725	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:615725	SPATA7	55812	HP:0001123	Visual field defect
OMIM:615725	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:615725	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:615725	SPATA7	55812	HP:0001105	Retinal atrophy
OMIM:615725	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:615725	ARL6	84100	HP:0001123	Visual field defect
OMIM:615725	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615725	ARL6	84100	HP:0000662	Nyctalopia
OMIM:615725	ARL6	84100	HP:0001105	Retinal atrophy
OMIM:615725	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:615725	CERKL	375298	HP:0001123	Visual field defect
OMIM:615725	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:615725	CERKL	375298	HP:0000662	Nyctalopia
OMIM:615725	CERKL	375298	HP:0001105	Retinal atrophy
OMIM:615725	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:615725	PRPF31	26121	HP:0001123	Visual field defect
OMIM:615725	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:615725	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:615725	PRPF31	26121	HP:0001105	Retinal atrophy
OMIM:615725	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:615725	TTC8	123016	HP:0001123	Visual field defect
OMIM:615725	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615725	TTC8	123016	HP:0000662	Nyctalopia
OMIM:615725	TTC8	123016	HP:0001105	Retinal atrophy
OMIM:615725	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:615725	PROM1	8842	HP:0001123	Visual field defect
OMIM:615725	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:615725	PROM1	8842	HP:0000662	Nyctalopia
OMIM:615725	PROM1	8842	HP:0001105	Retinal atrophy
OMIM:615725	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:615725	LRAT	9227	HP:0001123	Visual field defect
OMIM:615725	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:615725	LRAT	9227	HP:0000662	Nyctalopia
OMIM:615725	LRAT	9227	HP:0001105	Retinal atrophy
OMIM:615725	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:615725	IFT140	9742	HP:0001123	Visual field defect
OMIM:615725	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:615725	IFT140	9742	HP:0000662	Nyctalopia
OMIM:615725	IFT140	9742	HP:0001105	Retinal atrophy
OMIM:615725	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:615725	BEST1	7439	HP:0001123	Visual field defect
OMIM:615725	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:615725	BEST1	7439	HP:0000662	Nyctalopia
OMIM:615725	BEST1	7439	HP:0001105	Retinal atrophy
OMIM:615725	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:615725	NEK2	4751	HP:0001123	Visual field defect
OMIM:615725	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:615725	NEK2	4751	HP:0000662	Nyctalopia
OMIM:615725	NEK2	4751	HP:0001105	Retinal atrophy
OMIM:615725	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:615725	ARL2BP	23568	HP:0001123	Visual field defect
OMIM:615725	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:615725	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:615725	ARL2BP	23568	HP:0001105	Retinal atrophy
OMIM:615725	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:615725	NR2E3	10002	HP:0001123	Visual field defect
OMIM:615725	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:615725	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:615725	NR2E3	10002	HP:0001105	Retinal atrophy
OMIM:615725	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:615725	EYS	346007	HP:0001123	Visual field defect
OMIM:615725	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:615725	EYS	346007	HP:0000662	Nyctalopia
OMIM:615725	EYS	346007	HP:0001105	Retinal atrophy
OMIM:615725	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:615725	MAK	4117	HP:0001123	Visual field defect
OMIM:615725	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:615725	MAK	4117	HP:0000662	Nyctalopia
OMIM:615725	MAK	4117	HP:0001105	Retinal atrophy
OMIM:615725	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:615725	SAG	6295	HP:0001123	Visual field defect
OMIM:615725	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:615725	SAG	6295	HP:0000662	Nyctalopia
OMIM:615725	SAG	6295	HP:0001105	Retinal atrophy
OMIM:615725	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:615725	ABCA4	24	HP:0001123	Visual field defect
OMIM:615725	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:615725	ABCA4	24	HP:0000662	Nyctalopia
OMIM:615725	ABCA4	24	HP:0001105	Retinal atrophy
OMIM:615725	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:615725	PDE6A	5145	HP:0001123	Visual field defect
OMIM:615725	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:615725	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:615725	PDE6A	5145	HP:0001105	Retinal atrophy
OMIM:615725	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:615725	PDE6G	5148	HP:0001123	Visual field defect
OMIM:615725	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:615725	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:615725	PDE6G	5148	HP:0001105	Retinal atrophy
OMIM:615725	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:615725	IMPDH1	3614	HP:0001123	Visual field defect
OMIM:615725	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:615725	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:615725	IMPDH1	3614	HP:0001105	Retinal atrophy
OMIM:615725	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:615725	OFD1	8481	HP:0001123	Visual field defect
OMIM:615725	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:615725	OFD1	8481	HP:0000662	Nyctalopia
OMIM:615725	OFD1	8481	HP:0001105	Retinal atrophy
OMIM:615725	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615725	GUCA1B	2979	HP:0001123	Visual field defect
OMIM:615725	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:615725	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:615725	GUCA1B	2979	HP:0001105	Retinal atrophy
OMIM:615725	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:615725	NRL	4901	HP:0001123	Visual field defect
OMIM:615725	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:615725	NRL	4901	HP:0000662	Nyctalopia
OMIM:615725	NRL	4901	HP:0001105	Retinal atrophy
OMIM:615725	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:615725	PDE6B	5158	HP:0001123	Visual field defect
OMIM:615725	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:615725	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:615725	PDE6B	5158	HP:0001105	Retinal atrophy
OMIM:615725	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:615725	KLHL7	55975	HP:0001123	Visual field defect
OMIM:615725	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:615725	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:615725	KLHL7	55975	HP:0001105	Retinal atrophy
OMIM:615725	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:615725	PRPF4	9128	HP:0001123	Visual field defect
OMIM:615725	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:615725	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:615725	PRPF4	9128	HP:0001105	Retinal atrophy
OMIM:615725	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:615725	PRPF3	9129	HP:0001123	Visual field defect
OMIM:615725	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:615725	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:615725	PRPF3	9129	HP:0001105	Retinal atrophy
OMIM:615725	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:615725	FAM161A	84140	HP:0001123	Visual field defect
OMIM:615725	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:615725	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:615725	FAM161A	84140	HP:0001105	Retinal atrophy
OMIM:615725	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:615725	IFT172	26160	HP:0001123	Visual field defect
OMIM:615725	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615725	IFT172	26160	HP:0000662	Nyctalopia
OMIM:615725	IFT172	26160	HP:0001105	Retinal atrophy
OMIM:615725	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:615725	KIZ	55857	HP:0001123	Visual field defect
OMIM:615725	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:615725	KIZ	55857	HP:0000662	Nyctalopia
OMIM:615725	KIZ	55857	HP:0001105	Retinal atrophy
OMIM:615725	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:615725	CDHR1	92211	HP:0001123	Visual field defect
OMIM:615725	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:615725	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:615725	CDHR1	92211	HP:0001105	Retinal atrophy
OMIM:615725	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:615725	ZNF408	79797	HP:0001123	Visual field defect
OMIM:615725	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:615725	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:615725	ZNF408	79797	HP:0001105	Retinal atrophy
OMIM:615725	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:615725	RBP3	5949	HP:0001123	Visual field defect
OMIM:615725	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:615725	RBP3	5949	HP:0000662	Nyctalopia
OMIM:615725	RBP3	5949	HP:0001105	Retinal atrophy
OMIM:615725	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:615725	HGSNAT	138050	HP:0001123	Visual field defect
OMIM:615725	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:615725	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:615725	HGSNAT	138050	HP:0001105	Retinal atrophy
OMIM:615725	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:615725	FSCN2	25794	HP:0001123	Visual field defect
OMIM:615725	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:615725	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:615725	FSCN2	25794	HP:0001105	Retinal atrophy
OMIM:615725	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:615725	PRCD	768206	HP:0001123	Visual field defect
OMIM:615725	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:615725	PRCD	768206	HP:0000662	Nyctalopia
OMIM:615725	PRCD	768206	HP:0001105	Retinal atrophy
OMIM:615725	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:615725	BBS2	583	HP:0001123	Visual field defect
OMIM:615725	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615725	BBS2	583	HP:0000662	Nyctalopia
OMIM:615725	BBS2	583	HP:0001105	Retinal atrophy
OMIM:615725	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:615725	RDH12	145226	HP:0001123	Visual field defect
OMIM:615725	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:615725	RDH12	145226	HP:0000662	Nyctalopia
OMIM:615725	RDH12	145226	HP:0001105	Retinal atrophy
OMIM:615725	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:615725	PRPH2	5961	HP:0001123	Visual field defect
OMIM:615725	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:615725	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:615725	PRPH2	5961	HP:0001105	Retinal atrophy
OMIM:615725	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:615725	DHDDS	79947	HP:0001123	Visual field defect
OMIM:615725	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:615725	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:615725	DHDDS	79947	HP:0001105	Retinal atrophy
OMIM:615725	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:615725	ROM1	6094	HP:0001123	Visual field defect
OMIM:615725	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:615725	ROM1	6094	HP:0000662	Nyctalopia
OMIM:615725	ROM1	6094	HP:0001105	Retinal atrophy
OMIM:615725	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:615725	C2ORF71	388939	HP:0001123	Visual field defect
OMIM:615725	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:615725	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:615725	C2ORF71	388939	HP:0001105	Retinal atrophy
OMIM:615725	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:615725	RP9	6100	HP:0001123	Visual field defect
OMIM:615725	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:615725	RP9	6100	HP:0000662	Nyctalopia
OMIM:615725	RP9	6100	HP:0001105	Retinal atrophy
OMIM:615725	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:615725	PRPF6	24148	HP:0001123	Visual field defect
OMIM:615725	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:615725	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:615725	PRPF6	24148	HP:0001105	Retinal atrophy
OMIM:615725	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:615725	RP1	6101	HP:0001123	Visual field defect
OMIM:615725	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:615725	RP1	6101	HP:0000662	Nyctalopia
OMIM:615725	RP1	6101	HP:0001105	Retinal atrophy
OMIM:615725	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:615725	RP2	6102	HP:0001123	Visual field defect
OMIM:615725	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:615725	RP2	6102	HP:0000662	Nyctalopia
OMIM:615725	RP2	6102	HP:0001105	Retinal atrophy
OMIM:615725	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:615725	RPGR	6103	HP:0001123	Visual field defect
OMIM:615725	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:615725	RPGR	6103	HP:0000662	Nyctalopia
OMIM:615725	RPGR	6103	HP:0001105	Retinal atrophy
OMIM:615725	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615725	SEMA4A	64218	HP:0001123	Visual field defect
OMIM:615725	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:615725	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:615725	SEMA4A	64218	HP:0001105	Retinal atrophy
OMIM:615725	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:615725	C8ORF37	157657	HP:0001123	Visual field defect
OMIM:615725	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:615725	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:615725	C8ORF37	157657	HP:0001105	Retinal atrophy
OMIM:615725	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:615725	IDH3B	3420	HP:0001123	Visual field defect
OMIM:615725	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:615725	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:615725	IDH3B	3420	HP:0001105	Retinal atrophy
OMIM:615725	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:615725	MERTK	10461	HP:0001123	Visual field defect
OMIM:615725	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:615725	MERTK	10461	HP:0000662	Nyctalopia
OMIM:615725	MERTK	10461	HP:0001105	Retinal atrophy
OMIM:615725	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:615725	PRPF8	10594	HP:0001123	Visual field defect
OMIM:615725	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:615725	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:615725	PRPF8	10594	HP:0001105	Retinal atrophy
OMIM:615725	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:615725	TOPORS	10210	HP:0001123	Visual field defect
OMIM:615725	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:615725	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:615725	TOPORS	10210	HP:0001105	Retinal atrophy
OMIM:615725	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:615725	USH2A	7399	HP:0001123	Visual field defect
OMIM:615725	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:615725	USH2A	7399	HP:0000662	Nyctalopia
OMIM:615725	USH2A	7399	HP:0001105	Retinal atrophy
OMIM:615725	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:615725	RPE65	6121	HP:0001123	Visual field defect
OMIM:615725	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:615725	RPE65	6121	HP:0000662	Nyctalopia
OMIM:615725	RPE65	6121	HP:0001105	Retinal atrophy
OMIM:615725	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:615725	CLRN1	7401	HP:0001123	Visual field defect
OMIM:615725	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:615725	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:615725	CLRN1	7401	HP:0001105	Retinal atrophy
OMIM:615725	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:615725	CNGB1	1258	HP:0001123	Visual field defect
OMIM:615725	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:615725	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:615725	CNGB1	1258	HP:0001105	Retinal atrophy
OMIM:615725	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:615725	RGR	5995	HP:0001123	Visual field defect
OMIM:615725	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:615725	RGR	5995	HP:0000662	Nyctalopia
OMIM:615725	RGR	5995	HP:0001105	Retinal atrophy
OMIM:615725	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:615725	CNGA1	1259	HP:0001123	Visual field defect
OMIM:615725	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:615725	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:615725	CNGA1	1259	HP:0001105	Retinal atrophy
OMIM:615725	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:615725	TUB	7275	HP:0001123	Visual field defect
OMIM:615725	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:615725	TUB	7275	HP:0000662	Nyctalopia
OMIM:615725	TUB	7275	HP:0001105	Retinal atrophy
OMIM:615725	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:615725	SNRNP200	23020	HP:0001123	Visual field defect
OMIM:615725	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:615725	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:615725	SNRNP200	23020	HP:0001105	Retinal atrophy
OMIM:615725	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:615725	SLC7A14	57709	HP:0001123	Visual field defect
OMIM:615725	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:615725	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:615725	SLC7A14	57709	HP:0001105	Retinal atrophy
OMIM:615725	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:615725	TULP1	7287	HP:0001123	Visual field defect
OMIM:615725	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:615725	TULP1	7287	HP:0000662	Nyctalopia
OMIM:615725	TULP1	7287	HP:0001105	Retinal atrophy
OMIM:615725	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:615725	RHO	6010	HP:0001123	Visual field defect
OMIM:615725	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:615725	RHO	6010	HP:0000662	Nyctalopia
OMIM:615725	RHO	6010	HP:0001105	Retinal atrophy
OMIM:615725	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:615725	CA4	762	HP:0001123	Visual field defect
OMIM:615725	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:615725	CA4	762	HP:0000662	Nyctalopia
OMIM:615725	CA4	762	HP:0001105	Retinal atrophy
OMIM:615725	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:615725	CRB1	23418	HP:0001123	Visual field defect
OMIM:615725	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:615725	CRB1	23418	HP:0000662	Nyctalopia
OMIM:615725	CRB1	23418	HP:0001105	Retinal atrophy
OMIM:615725	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:615725	IMPG2	50939	HP:0001123	Visual field defect
OMIM:615725	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:615725	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:615725	IMPG2	50939	HP:0001105	Retinal atrophy
OMIM:615725	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:615725	ZNF513	130557	HP:0001123	Visual field defect
OMIM:615725	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:615725	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:615725	ZNF513	130557	HP:0001105	Retinal atrophy
OMIM:615725	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:615725	CRX	1406	HP:0001123	Visual field defect
OMIM:615725	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:615725	CRX	1406	HP:0000662	Nyctalopia
OMIM:615725	CRX	1406	HP:0001105	Retinal atrophy
OMIM:615725	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:300695	FHL1	2273	HP:0003581	Adult onset
OMIM:300695	FHL1	2273	HP:0011675	Arrhythmia
OMIM:300695	FHL1	2273	HP:0003691	Scapular winging
OMIM:300695	FHL1	2273	HP:0003202	Skeletal muscle atrophy
OMIM:300695	FHL1	2273	HP:0001371	Flexion contracture
OMIM:300695	FHL1	2273	HP:0001265	Hyporeflexia
OMIM:300695	FHL1	2273	HP:0002515	Waddling gait
OMIM:300695	FHL1	2273	HP:0001423	X-linked dominant inheritance
OMIM:300695	FHL1	2273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300695	FHL1	2273	HP:0003376	Steppage gait
OMIM:300695	FHL1	2273	HP:0007340	Lower limb muscle weakness
OMIM:300695	FHL1	2273	HP:0009027	Foot dorsiflexor weakness
OMIM:132900	TGFB2	7042	HP:0001643	Patent ductus arteriosus
OMIM:132900	TGFB2	7042	HP:0001677	Coronary artery disease
OMIM:132900	TGFB2	7042	HP:0001647	Bicuspid aortic valve
OMIM:132900	TGFB2	7042	HP:0001659	Aortic regurgitation
OMIM:132900	TGFB2	7042	HP:0000006	Autosomal dominant inheritance
OMIM:132900	TGFB2	7042	HP:0001297	Stroke
OMIM:132900	TGFB2	7042	HP:0008034	Abnormal iris pigmentation
OMIM:132900	MYH11	4629	HP:0001643	Patent ductus arteriosus
OMIM:132900	MYH11	4629	HP:0001677	Coronary artery disease
OMIM:132900	MYH11	4629	HP:0001647	Bicuspid aortic valve
OMIM:132900	MYH11	4629	HP:0001659	Aortic regurgitation
OMIM:132900	MYH11	4629	HP:0000006	Autosomal dominant inheritance
OMIM:132900	MYH11	4629	HP:0001297	Stroke
OMIM:132900	MYH11	4629	HP:0008034	Abnormal iris pigmentation
OMIM:132900	TGFBR1	7046	HP:0001643	Patent ductus arteriosus
OMIM:132900	TGFBR1	7046	HP:0001677	Coronary artery disease
OMIM:132900	TGFBR1	7046	HP:0001647	Bicuspid aortic valve
OMIM:132900	TGFBR1	7046	HP:0001659	Aortic regurgitation
OMIM:132900	TGFBR1	7046	HP:0000006	Autosomal dominant inheritance
OMIM:132900	TGFBR1	7046	HP:0001297	Stroke
OMIM:132900	TGFBR1	7046	HP:0008034	Abnormal iris pigmentation
OMIM:132900	TGFBR2	7048	HP:0001643	Patent ductus arteriosus
OMIM:132900	TGFBR2	7048	HP:0001677	Coronary artery disease
OMIM:132900	TGFBR2	7048	HP:0001647	Bicuspid aortic valve
OMIM:132900	TGFBR2	7048	HP:0001659	Aortic regurgitation
OMIM:132900	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:132900	TGFBR2	7048	HP:0001297	Stroke
OMIM:132900	TGFBR2	7048	HP:0008034	Abnormal iris pigmentation
OMIM:132900	FBN1	2200	HP:0001643	Patent ductus arteriosus
OMIM:132900	FBN1	2200	HP:0001677	Coronary artery disease
OMIM:132900	FBN1	2200	HP:0001647	Bicuspid aortic valve
OMIM:132900	FBN1	2200	HP:0001659	Aortic regurgitation
OMIM:132900	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:132900	FBN1	2200	HP:0001297	Stroke
OMIM:132900	FBN1	2200	HP:0008034	Abnormal iris pigmentation
OMIM:132900	SMAD3	4088	HP:0001643	Patent ductus arteriosus
OMIM:132900	SMAD3	4088	HP:0001677	Coronary artery disease
OMIM:132900	SMAD3	4088	HP:0001647	Bicuspid aortic valve
OMIM:132900	SMAD3	4088	HP:0001659	Aortic regurgitation
OMIM:132900	SMAD3	4088	HP:0000006	Autosomal dominant inheritance
OMIM:132900	SMAD3	4088	HP:0001297	Stroke
OMIM:132900	SMAD3	4088	HP:0008034	Abnormal iris pigmentation
OMIM:132900	PRKG1	5592	HP:0001643	Patent ductus arteriosus
OMIM:132900	PRKG1	5592	HP:0001677	Coronary artery disease
OMIM:132900	PRKG1	5592	HP:0001647	Bicuspid aortic valve
OMIM:132900	PRKG1	5592	HP:0001659	Aortic regurgitation
OMIM:132900	PRKG1	5592	HP:0000006	Autosomal dominant inheritance
OMIM:132900	PRKG1	5592	HP:0001297	Stroke
OMIM:132900	PRKG1	5592	HP:0008034	Abnormal iris pigmentation
OMIM:132900	ACTA2	59	HP:0001643	Patent ductus arteriosus
OMIM:132900	ACTA2	59	HP:0001677	Coronary artery disease
OMIM:132900	ACTA2	59	HP:0001647	Bicuspid aortic valve
OMIM:132900	ACTA2	59	HP:0001659	Aortic regurgitation
OMIM:132900	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:132900	ACTA2	59	HP:0001297	Stroke
OMIM:132900	ACTA2	59	HP:0008034	Abnormal iris pigmentation
OMIM:132900	MFAP5	8076	HP:0001643	Patent ductus arteriosus
OMIM:132900	MFAP5	8076	HP:0001677	Coronary artery disease
OMIM:132900	MFAP5	8076	HP:0001647	Bicuspid aortic valve
OMIM:132900	MFAP5	8076	HP:0001659	Aortic regurgitation
OMIM:132900	MFAP5	8076	HP:0000006	Autosomal dominant inheritance
OMIM:132900	MFAP5	8076	HP:0001297	Stroke
OMIM:132900	MFAP5	8076	HP:0008034	Abnormal iris pigmentation
OMIM:132900	MYLK	4638	HP:0001643	Patent ductus arteriosus
OMIM:132900	MYLK	4638	HP:0001677	Coronary artery disease
OMIM:132900	MYLK	4638	HP:0001647	Bicuspid aortic valve
OMIM:132900	MYLK	4638	HP:0001659	Aortic regurgitation
OMIM:132900	MYLK	4638	HP:0000006	Autosomal dominant inheritance
OMIM:132900	MYLK	4638	HP:0001297	Stroke
OMIM:132900	MYLK	4638	HP:0008034	Abnormal iris pigmentation
ORPHANET:35098	FGFR3	2261	HP:0001123	Visual field defect
ORPHANET:35098	FGFR3	2261	HP:0000256	Macrocephaly
ORPHANET:35098	FGFR3	2261	HP:0000365	Hearing impairment
ORPHANET:35098	FGFR3	2261	HP:0000486	Strabismus
ORPHANET:35098	FGFR3	2261	HP:0002007	Frontal bossing
ORPHANET:35098	FGFR3	2261	HP:0100543	Cognitive impairment
ORPHANET:35098	FGFR3	2261	HP:0001357	Plagiocephaly
ORPHANET:35098	FGFR3	2261	HP:0000272	Malar flattening
ORPHANET:35098	FGFR3	2261	HP:0000324	Facial asymmetry
ORPHANET:35098	ZIC1	7545	HP:0001123	Visual field defect
ORPHANET:35098	ZIC1	7545	HP:0000256	Macrocephaly
ORPHANET:35098	ZIC1	7545	HP:0000365	Hearing impairment
ORPHANET:35098	ZIC1	7545	HP:0000486	Strabismus
ORPHANET:35098	ZIC1	7545	HP:0002007	Frontal bossing
ORPHANET:35098	ZIC1	7545	HP:0100543	Cognitive impairment
ORPHANET:35098	ZIC1	7545	HP:0001357	Plagiocephaly
ORPHANET:35098	ZIC1	7545	HP:0000272	Malar flattening
ORPHANET:35098	ZIC1	7545	HP:0000324	Facial asymmetry
ORPHANET:35098	TCF12	6938	HP:0001123	Visual field defect
ORPHANET:35098	TCF12	6938	HP:0000256	Macrocephaly
ORPHANET:35098	TCF12	6938	HP:0000365	Hearing impairment
ORPHANET:35098	TCF12	6938	HP:0000486	Strabismus
ORPHANET:35098	TCF12	6938	HP:0002007	Frontal bossing
ORPHANET:35098	TCF12	6938	HP:0100543	Cognitive impairment
ORPHANET:35098	TCF12	6938	HP:0001357	Plagiocephaly
ORPHANET:35098	TCF12	6938	HP:0000272	Malar flattening
ORPHANET:35098	TCF12	6938	HP:0000324	Facial asymmetry
OMIM:176305	HOXA13	3209	HP:0001156	Brachydactyly syndrome
OMIM:176305	HOXA13	3209	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:176305	HOXA13	3209	HP:0000006	Autosomal dominant inheritance
OMIM:176305	HOXA13	3209	HP:0010624	Aplastic/hypoplastic toenail
OMIM:176305	HOXA13	3209	HP:0001162	Postaxial hand polydactyly
OMIM:176305	HOXA13	3209	HP:0009882	Short distal phalanx of finger
OMIM:176305	HOXA13	3209	HP:0100627	Displacement of the external urethral meatus
OMIM:176305	HOXA13	3209	HP:0010109	Short hallux
OMIM:176305	HOXA13	3209	HP:0004209	Clinodactyly of the 5th finger
OMIM:613668	MED17	9440	HP:0000253	Progressive microcephaly
OMIM:613668	MED17	9440	HP:0005484	Postnatal microcephaly
OMIM:613668	MED17	9440	HP:0000007	Autosomal recessive inheritance
OMIM:613668	MED17	9440	HP:0001250	Seizures
OMIM:613668	MED17	9440	HP:0001257	Spasticity
OMIM:613668	MED17	9440	HP:0002521	Hypsarrhythmia
OMIM:613668	MED17	9440	HP:0003676	Progressive
OMIM:613668	MED17	9440	HP:0002015	Dysphagia
OMIM:613668	MED17	9440	HP:0002169	Clonus
OMIM:613668	MED17	9440	HP:0011968	Feeding difficulties
OMIM:613668	MED17	9440	HP:0001263	Global developmental delay
OMIM:613668	MED17	9440	HP:0001508	Failure to thrive
OMIM:500009	TRMU	55687	HP:0000467	Neck muscle weakness
OMIM:500009	TRMU	55687	HP:0002240	Hepatomegaly
OMIM:500009	TRMU	55687	HP:0003623	Neonatal onset
OMIM:500009	TRMU	55687	HP:0001508	Failure to thrive
OMIM:500009	TRMU	55687	HP:0003236	Elevated serum creatine phosphokinase
OMIM:500009	TRMU	55687	HP:0011968	Feeding difficulties
OMIM:500009	TRMU	55687	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:500009	TRMU	55687	HP:0002151	Increased serum lactate
OMIM:500009	TRMU	55687	HP:0001290	Generalized hypotonia
OMIM:500009	TRMU	55687	HP:0000158	Macroglossia
OMIM:500009	TRMU	55687	HP:0001265	Hyporeflexia
OMIM:500009	TRMU	55687	HP:0003128	Lactic acidosis
OMIM:500009	TRMU	55687	HP:0001427	Mitochondrial inheritance
OMIM:500009	TRMU	55687	HP:0010628	Facial palsy
OMIM:500009	TRMU	55687	HP:0001284	Areflexia
OMIM:500009	TRMU	55687	HP:0003542	Increased serum pyruvate
OMIM:500009	TRNE	4556	HP:0000467	Neck muscle weakness
OMIM:500009	TRNE	4556	HP:0002240	Hepatomegaly
OMIM:500009	TRNE	4556	HP:0003623	Neonatal onset
OMIM:500009	TRNE	4556	HP:0001508	Failure to thrive
OMIM:500009	TRNE	4556	HP:0003236	Elevated serum creatine phosphokinase
OMIM:500009	TRNE	4556	HP:0011968	Feeding difficulties
OMIM:500009	TRNE	4556	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:500009	TRNE	4556	HP:0002151	Increased serum lactate
OMIM:500009	TRNE	4556	HP:0001290	Generalized hypotonia
OMIM:500009	TRNE	4556	HP:0000158	Macroglossia
OMIM:500009	TRNE	4556	HP:0001265	Hyporeflexia
OMIM:500009	TRNE	4556	HP:0003128	Lactic acidosis
OMIM:500009	TRNE	4556	HP:0001427	Mitochondrial inheritance
OMIM:500009	TRNE	4556	HP:0010628	Facial palsy
OMIM:500009	TRNE	4556	HP:0001284	Areflexia
OMIM:500009	TRNE	4556	HP:0003542	Increased serum pyruvate
OMIM:610476	DSC2	1824	HP:0001962	Palpitations
OMIM:610476	DSC2	1824	HP:0000006	Autosomal dominant inheritance
OMIM:610476	DSC2	1824	HP:0000007	Autosomal recessive inheritance
OMIM:610476	DSC2	1824	HP:0001279	Syncope
OMIM:610476	DSC2	1824	HP:0000982	Palmoplantar keratoderma
OMIM:610476	DSC2	1824	HP:0002224	Woolly hair
OMIM:610476	DSC2	1824	HP:0011663	Right ventricular cardiomyopathy
OMIM:610476	DSC2	1824	HP:0001645	Sudden cardiac death
OMIM:610476	DSC2	1824	HP:0002094	Dyspnea
OMIM:610476	DSC2	1824	HP:0004308	Ventricular arrhythmia
OMIM:168550	MSX2	4488	HP:0000006	Autosomal dominant inheritance
OMIM:168550	MSX2	4488	HP:0000894	Short clavicles
OMIM:168550	MSX2	4488	HP:0002697	Parietal foramina
OMIM:168550	MSX2	4488	HP:0004492	Widely patent fontanelles and sutures
OMIM:168550	MSX2	4488	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:119800	PITX1	5307	HP:0000006	Autosomal dominant inheritance
OMIM:119800	PITX1	5307	HP:0003829	Incomplete penetrance
OMIM:119800	PITX1	5307	HP:0001762	Talipes equinovarus
OMIM:119800	PITX1	5307	HP:0001829	Foot polydactyly
OMIM:607842	TSHZ1	10194	HP:0000413	Atresia of the external auditory canal
OMIM:607842	TSHZ1	10194	HP:0004409	Hyposmia
OMIM:607842	TSHZ1	10194	HP:0000006	Autosomal dominant inheritance
OMIM:607842	TSHZ1	10194	HP:0000405	Conductive hearing impairment
OMIM:152200	LPA	4018	HP:0000006	Autosomal dominant inheritance
OMIM:152200	LPA	4018	HP:0002621	Atherosclerosis
OMIM:152200	LPA	4018	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:131760	KRT14	3861	HP:0000006	Autosomal dominant inheritance
OMIM:131760	KRT14	3861	HP:0200042	Skin ulcer
OMIM:131760	KRT14	3861	HP:0000982	Palmoplantar keratoderma
OMIM:131760	KRT14	3861	HP:0002019	Constipation
OMIM:131760	KRT14	3861	HP:0003623	Neonatal onset
OMIM:131760	KRT14	3861	HP:0001510	Growth delay
OMIM:131760	KRT14	3861	HP:0000163	Abnormality of the oral cavity
OMIM:131760	KRT14	3861	HP:0001000	Abnormality of skin pigmentation
OMIM:131760	KRT14	3861	HP:0001933	Subcutaneous hemorrhage
OMIM:131760	KRT14	3861	HP:0002164	Nail dysplasia
OMIM:131760	KRT14	3861	HP:0001075	Atrophic scars
OMIM:131760	KRT14	3861	HP:0008404	Nail dystrophy
OMIM:131760	KRT14	3861	HP:0008872	Feeding difficulties in infancy
OMIM:131760	KRT14	3861	HP:0001231	Abnormality of the fingernails
OMIM:131760	KRT14	3861	HP:0008069	Neoplasm of the skin
OMIM:131760	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:131760	KRT5	3852	HP:0200042	Skin ulcer
OMIM:131760	KRT5	3852	HP:0000982	Palmoplantar keratoderma
OMIM:131760	KRT5	3852	HP:0002019	Constipation
OMIM:131760	KRT5	3852	HP:0003623	Neonatal onset
OMIM:131760	KRT5	3852	HP:0001510	Growth delay
OMIM:131760	KRT5	3852	HP:0000163	Abnormality of the oral cavity
OMIM:131760	KRT5	3852	HP:0001000	Abnormality of skin pigmentation
OMIM:131760	KRT5	3852	HP:0001933	Subcutaneous hemorrhage
OMIM:131760	KRT5	3852	HP:0002164	Nail dysplasia
OMIM:131760	KRT5	3852	HP:0001075	Atrophic scars
OMIM:131760	KRT5	3852	HP:0008404	Nail dystrophy
OMIM:131760	KRT5	3852	HP:0008872	Feeding difficulties in infancy
OMIM:131760	KRT5	3852	HP:0001231	Abnormality of the fingernails
OMIM:131760	KRT5	3852	HP:0008069	Neoplasm of the skin
OMIM:615643	COASY	80347	HP:0002510	Spastic tetraplegia
OMIM:615643	COASY	80347	HP:0001260	Dysarthria
OMIM:615643	COASY	80347	HP:0002376	Developmental regression
OMIM:615643	COASY	80347	HP:0003676	Progressive
OMIM:615643	COASY	80347	HP:0001761	Pes cavus
OMIM:615643	COASY	80347	HP:0002180	Neurodegeneration
OMIM:615643	COASY	80347	HP:0001268	Mental deterioration
OMIM:615643	COASY	80347	HP:0001265	Hyporeflexia
OMIM:615643	COASY	80347	HP:0002067	Bradykinesia
OMIM:615643	COASY	80347	HP:0000722	Obsessive-compulsive behavior
OMIM:615643	COASY	80347	HP:0002063	Rigidity
OMIM:615643	COASY	80347	HP:0002313	Spastic paraparesis
OMIM:615643	COASY	80347	HP:0003693	Distal amyotrophy
OMIM:615643	COASY	80347	HP:0000007	Autosomal recessive inheritance
OMIM:194072	WT1	7490	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194072	WT1	7490	HP:0000150	Gonadoblastoma
OMIM:194072	WT1	7490	HP:0000047	Hypospadias
OMIM:194072	WT1	7490	HP:0000083	Renal insufficiency
OMIM:194072	WT1	7490	HP:0000142	Abnormality of the vagina
OMIM:194072	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:194072	WT1	7490	HP:0010464	Streak ovary
OMIM:194072	WT1	7490	HP:0001428	Somatic mutation
OMIM:194072	WT1	7490	HP:0000028	Cryptorchidism
OMIM:194072	WT1	7490	HP:0000112	Nephropathy
OMIM:194072	WT1	7490	HP:0000130	Abnormality of the uterus
OMIM:194072	WT1	7490	HP:0001249	Intellectual disability
OMIM:194072	WT1	7490	HP:0001513	Obesity
OMIM:194072	BDNF	627	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194072	BDNF	627	HP:0000150	Gonadoblastoma
OMIM:194072	BDNF	627	HP:0000047	Hypospadias
OMIM:194072	BDNF	627	HP:0000083	Renal insufficiency
OMIM:194072	BDNF	627	HP:0000142	Abnormality of the vagina
OMIM:194072	BDNF	627	HP:0000006	Autosomal dominant inheritance
OMIM:194072	BDNF	627	HP:0010464	Streak ovary
OMIM:194072	BDNF	627	HP:0001428	Somatic mutation
OMIM:194072	BDNF	627	HP:0000028	Cryptorchidism
OMIM:194072	BDNF	627	HP:0000112	Nephropathy
OMIM:194072	BDNF	627	HP:0000130	Abnormality of the uterus
OMIM:194072	BDNF	627	HP:0001249	Intellectual disability
OMIM:194072	BDNF	627	HP:0001513	Obesity
OMIM:194072	PAX6	5080	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194072	PAX6	5080	HP:0000150	Gonadoblastoma
OMIM:194072	PAX6	5080	HP:0000047	Hypospadias
OMIM:194072	PAX6	5080	HP:0000083	Renal insufficiency
OMIM:194072	PAX6	5080	HP:0000142	Abnormality of the vagina
OMIM:194072	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:194072	PAX6	5080	HP:0010464	Streak ovary
OMIM:194072	PAX6	5080	HP:0001428	Somatic mutation
OMIM:194072	PAX6	5080	HP:0000028	Cryptorchidism
OMIM:194072	PAX6	5080	HP:0000112	Nephropathy
OMIM:194072	PAX6	5080	HP:0000130	Abnormality of the uterus
OMIM:194072	PAX6	5080	HP:0001249	Intellectual disability
OMIM:194072	PAX6	5080	HP:0001513	Obesity
OMIM:616433	DOCK2	1794	HP:0002721	Immunodeficiency
OMIM:601885	CRYBA2	1412	HP:0010920	Zonular cataract
OMIM:601885	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:601885	AGK	55750	HP:0010920	Zonular cataract
OMIM:601885	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:601885	GCNT2	2651	HP:0010920	Zonular cataract
OMIM:601885	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:601885	GJA3	2700	HP:0010920	Zonular cataract
OMIM:601885	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:613780	TGFB2	7042	HP:0000006	Autosomal dominant inheritance
OMIM:613780	TGFB2	7042	HP:0004942	Aortic aneurysm
OMIM:613780	MYH11	4629	HP:0000006	Autosomal dominant inheritance
OMIM:613780	MYH11	4629	HP:0004942	Aortic aneurysm
OMIM:613780	TGFBR1	7046	HP:0000006	Autosomal dominant inheritance
OMIM:613780	TGFBR1	7046	HP:0004942	Aortic aneurysm
OMIM:613780	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:613780	TGFBR2	7048	HP:0004942	Aortic aneurysm
OMIM:613780	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:613780	FBN1	2200	HP:0004942	Aortic aneurysm
OMIM:613780	SMAD3	4088	HP:0000006	Autosomal dominant inheritance
OMIM:613780	SMAD3	4088	HP:0004942	Aortic aneurysm
OMIM:613780	PRKG1	5592	HP:0000006	Autosomal dominant inheritance
OMIM:613780	PRKG1	5592	HP:0004942	Aortic aneurysm
OMIM:613780	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:613780	ACTA2	59	HP:0004942	Aortic aneurysm
OMIM:613780	MFAP5	8076	HP:0000006	Autosomal dominant inheritance
OMIM:613780	MFAP5	8076	HP:0004942	Aortic aneurysm
OMIM:613780	MYLK	4638	HP:0000006	Autosomal dominant inheritance
OMIM:613780	MYLK	4638	HP:0004942	Aortic aneurysm
OMIM:614807	CCDC78	124093	HP:0000006	Autosomal dominant inheritance
OMIM:614807	CCDC78	124093	HP:0100543	Cognitive impairment
OMIM:614807	CCDC78	124093	HP:0003326	Myalgia
OMIM:614807	CCDC78	124093	HP:0001252	Muscular hypotonia
OMIM:113500	TRPV4	59341	HP:0002650	Scoliosis
OMIM:113500	TRPV4	59341	HP:0004322	Short stature
OMIM:113500	TRPV4	59341	HP:0002176	Spinal cord compression
OMIM:113500	TRPV4	59341	HP:0000926	Platyspondyly
OMIM:113500	TRPV4	59341	HP:0001552	Barrel-shaped chest
OMIM:113500	TRPV4	59341	HP:0030084	Clinodactyly
OMIM:113500	TRPV4	59341	HP:0000470	Short neck
OMIM:113500	TRPV4	59341	HP:0000540	Hypermetropia
OMIM:113500	TRPV4	59341	HP:0000944	Abnormality of the metaphyses
OMIM:113500	TRPV4	59341	HP:0009466	Radial deviation of finger
OMIM:113500	TRPV4	59341	HP:0002808	Kyphosis
OMIM:113500	TRPV4	59341	HP:0010306	Short thorax
OMIM:113500	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:113500	TRPV4	59341	HP:0100864	Short femoral neck
OMIM:191160	TNF	7124	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:191160	TNF	7124	HP:0002664	Neoplasm
OMIM:191160	TNF	7124	HP:0000007	Autosomal recessive inheritance
OMIM:300155	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:300155	RLBP1	6017	HP:0008020	Progressive cone degeneration
OMIM:300155	RLBP1	6017	HP:0001417	X-linked inheritance
OMIM:300155	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:300155	SPATA7	55812	HP:0008020	Progressive cone degeneration
OMIM:300155	SPATA7	55812	HP:0001417	X-linked inheritance
OMIM:300155	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:300155	ARL6	84100	HP:0008020	Progressive cone degeneration
OMIM:300155	ARL6	84100	HP:0001417	X-linked inheritance
OMIM:300155	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:300155	CERKL	375298	HP:0008020	Progressive cone degeneration
OMIM:300155	CERKL	375298	HP:0001417	X-linked inheritance
OMIM:300155	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:300155	PRPF31	26121	HP:0008020	Progressive cone degeneration
OMIM:300155	PRPF31	26121	HP:0001417	X-linked inheritance
OMIM:300155	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:300155	TTC8	123016	HP:0008020	Progressive cone degeneration
OMIM:300155	TTC8	123016	HP:0001417	X-linked inheritance
OMIM:300155	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:300155	PROM1	8842	HP:0008020	Progressive cone degeneration
OMIM:300155	PROM1	8842	HP:0001417	X-linked inheritance
OMIM:300155	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:300155	LRAT	9227	HP:0008020	Progressive cone degeneration
OMIM:300155	LRAT	9227	HP:0001417	X-linked inheritance
OMIM:300155	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:300155	IFT140	9742	HP:0008020	Progressive cone degeneration
OMIM:300155	IFT140	9742	HP:0001417	X-linked inheritance
OMIM:300155	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:300155	BEST1	7439	HP:0008020	Progressive cone degeneration
OMIM:300155	BEST1	7439	HP:0001417	X-linked inheritance
OMIM:300155	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:300155	NEK2	4751	HP:0008020	Progressive cone degeneration
OMIM:300155	NEK2	4751	HP:0001417	X-linked inheritance
OMIM:300155	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:300155	ARL2BP	23568	HP:0008020	Progressive cone degeneration
OMIM:300155	ARL2BP	23568	HP:0001417	X-linked inheritance
OMIM:300155	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:300155	NR2E3	10002	HP:0008020	Progressive cone degeneration
OMIM:300155	NR2E3	10002	HP:0001417	X-linked inheritance
OMIM:300155	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:300155	EYS	346007	HP:0008020	Progressive cone degeneration
OMIM:300155	EYS	346007	HP:0001417	X-linked inheritance
OMIM:300155	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:300155	MAK	4117	HP:0008020	Progressive cone degeneration
OMIM:300155	MAK	4117	HP:0001417	X-linked inheritance
OMIM:300155	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:300155	SAG	6295	HP:0008020	Progressive cone degeneration
OMIM:300155	SAG	6295	HP:0001417	X-linked inheritance
OMIM:300155	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:300155	ABCA4	24	HP:0008020	Progressive cone degeneration
OMIM:300155	ABCA4	24	HP:0001417	X-linked inheritance
OMIM:300155	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:300155	PDE6A	5145	HP:0008020	Progressive cone degeneration
OMIM:300155	PDE6A	5145	HP:0001417	X-linked inheritance
OMIM:300155	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:300155	PDE6G	5148	HP:0008020	Progressive cone degeneration
OMIM:300155	PDE6G	5148	HP:0001417	X-linked inheritance
OMIM:300155	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:300155	IMPDH1	3614	HP:0008020	Progressive cone degeneration
OMIM:300155	IMPDH1	3614	HP:0001417	X-linked inheritance
OMIM:300155	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:300155	OFD1	8481	HP:0008020	Progressive cone degeneration
OMIM:300155	OFD1	8481	HP:0001417	X-linked inheritance
OMIM:300155	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:300155	GUCA1B	2979	HP:0008020	Progressive cone degeneration
OMIM:300155	GUCA1B	2979	HP:0001417	X-linked inheritance
OMIM:300155	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:300155	NRL	4901	HP:0008020	Progressive cone degeneration
OMIM:300155	NRL	4901	HP:0001417	X-linked inheritance
OMIM:300155	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:300155	PDE6B	5158	HP:0008020	Progressive cone degeneration
OMIM:300155	PDE6B	5158	HP:0001417	X-linked inheritance
OMIM:300155	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:300155	KLHL7	55975	HP:0008020	Progressive cone degeneration
OMIM:300155	KLHL7	55975	HP:0001417	X-linked inheritance
OMIM:300155	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:300155	PRPF4	9128	HP:0008020	Progressive cone degeneration
OMIM:300155	PRPF4	9128	HP:0001417	X-linked inheritance
OMIM:300155	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:300155	PRPF3	9129	HP:0008020	Progressive cone degeneration
OMIM:300155	PRPF3	9129	HP:0001417	X-linked inheritance
OMIM:300155	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:300155	FAM161A	84140	HP:0008020	Progressive cone degeneration
OMIM:300155	FAM161A	84140	HP:0001417	X-linked inheritance
OMIM:300155	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:300155	IFT172	26160	HP:0008020	Progressive cone degeneration
OMIM:300155	IFT172	26160	HP:0001417	X-linked inheritance
OMIM:300155	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:300155	KIZ	55857	HP:0008020	Progressive cone degeneration
OMIM:300155	KIZ	55857	HP:0001417	X-linked inheritance
OMIM:300155	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:300155	CDHR1	92211	HP:0008020	Progressive cone degeneration
OMIM:300155	CDHR1	92211	HP:0001417	X-linked inheritance
OMIM:300155	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:300155	ZNF408	79797	HP:0008020	Progressive cone degeneration
OMIM:300155	ZNF408	79797	HP:0001417	X-linked inheritance
OMIM:300155	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:300155	RBP3	5949	HP:0008020	Progressive cone degeneration
OMIM:300155	RBP3	5949	HP:0001417	X-linked inheritance
OMIM:300155	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:300155	HGSNAT	138050	HP:0008020	Progressive cone degeneration
OMIM:300155	HGSNAT	138050	HP:0001417	X-linked inheritance
OMIM:300155	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:300155	FSCN2	25794	HP:0008020	Progressive cone degeneration
OMIM:300155	FSCN2	25794	HP:0001417	X-linked inheritance
OMIM:300155	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:300155	PRCD	768206	HP:0008020	Progressive cone degeneration
OMIM:300155	PRCD	768206	HP:0001417	X-linked inheritance
OMIM:300155	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:300155	BBS2	583	HP:0008020	Progressive cone degeneration
OMIM:300155	BBS2	583	HP:0001417	X-linked inheritance
OMIM:300155	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:300155	RDH12	145226	HP:0008020	Progressive cone degeneration
OMIM:300155	RDH12	145226	HP:0001417	X-linked inheritance
OMIM:300155	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:300155	PRPH2	5961	HP:0008020	Progressive cone degeneration
OMIM:300155	PRPH2	5961	HP:0001417	X-linked inheritance
OMIM:300155	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:300155	DHDDS	79947	HP:0008020	Progressive cone degeneration
OMIM:300155	DHDDS	79947	HP:0001417	X-linked inheritance
OMIM:300155	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:300155	ROM1	6094	HP:0008020	Progressive cone degeneration
OMIM:300155	ROM1	6094	HP:0001417	X-linked inheritance
OMIM:300155	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:300155	C2ORF71	388939	HP:0008020	Progressive cone degeneration
OMIM:300155	C2ORF71	388939	HP:0001417	X-linked inheritance
OMIM:300155	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:300155	RP9	6100	HP:0008020	Progressive cone degeneration
OMIM:300155	RP9	6100	HP:0001417	X-linked inheritance
OMIM:300155	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:300155	PRPF6	24148	HP:0008020	Progressive cone degeneration
OMIM:300155	PRPF6	24148	HP:0001417	X-linked inheritance
OMIM:300155	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:300155	RP1	6101	HP:0008020	Progressive cone degeneration
OMIM:300155	RP1	6101	HP:0001417	X-linked inheritance
OMIM:300155	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:300155	RP2	6102	HP:0008020	Progressive cone degeneration
OMIM:300155	RP2	6102	HP:0001417	X-linked inheritance
OMIM:300155	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:300155	RPGR	6103	HP:0008020	Progressive cone degeneration
OMIM:300155	RPGR	6103	HP:0001417	X-linked inheritance
OMIM:300155	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:300155	SEMA4A	64218	HP:0008020	Progressive cone degeneration
OMIM:300155	SEMA4A	64218	HP:0001417	X-linked inheritance
OMIM:300155	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:300155	C8ORF37	157657	HP:0008020	Progressive cone degeneration
OMIM:300155	C8ORF37	157657	HP:0001417	X-linked inheritance
OMIM:300155	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:300155	IDH3B	3420	HP:0008020	Progressive cone degeneration
OMIM:300155	IDH3B	3420	HP:0001417	X-linked inheritance
OMIM:300155	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:300155	MERTK	10461	HP:0008020	Progressive cone degeneration
OMIM:300155	MERTK	10461	HP:0001417	X-linked inheritance
OMIM:300155	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:300155	PRPF8	10594	HP:0008020	Progressive cone degeneration
OMIM:300155	PRPF8	10594	HP:0001417	X-linked inheritance
OMIM:300155	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:300155	TOPORS	10210	HP:0008020	Progressive cone degeneration
OMIM:300155	TOPORS	10210	HP:0001417	X-linked inheritance
OMIM:300155	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:300155	USH2A	7399	HP:0008020	Progressive cone degeneration
OMIM:300155	USH2A	7399	HP:0001417	X-linked inheritance
OMIM:300155	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:300155	RPE65	6121	HP:0008020	Progressive cone degeneration
OMIM:300155	RPE65	6121	HP:0001417	X-linked inheritance
OMIM:300155	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:300155	CLRN1	7401	HP:0008020	Progressive cone degeneration
OMIM:300155	CLRN1	7401	HP:0001417	X-linked inheritance
OMIM:300155	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:300155	CNGB1	1258	HP:0008020	Progressive cone degeneration
OMIM:300155	CNGB1	1258	HP:0001417	X-linked inheritance
OMIM:300155	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:300155	RGR	5995	HP:0008020	Progressive cone degeneration
OMIM:300155	RGR	5995	HP:0001417	X-linked inheritance
OMIM:300155	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:300155	CNGA1	1259	HP:0008020	Progressive cone degeneration
OMIM:300155	CNGA1	1259	HP:0001417	X-linked inheritance
OMIM:300155	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:300155	TUB	7275	HP:0008020	Progressive cone degeneration
OMIM:300155	TUB	7275	HP:0001417	X-linked inheritance
OMIM:300155	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:300155	SNRNP200	23020	HP:0008020	Progressive cone degeneration
OMIM:300155	SNRNP200	23020	HP:0001417	X-linked inheritance
OMIM:300155	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:300155	SLC7A14	57709	HP:0008020	Progressive cone degeneration
OMIM:300155	SLC7A14	57709	HP:0001417	X-linked inheritance
OMIM:300155	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:300155	TULP1	7287	HP:0008020	Progressive cone degeneration
OMIM:300155	TULP1	7287	HP:0001417	X-linked inheritance
OMIM:300155	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:300155	RHO	6010	HP:0008020	Progressive cone degeneration
OMIM:300155	RHO	6010	HP:0001417	X-linked inheritance
OMIM:300155	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:300155	CA4	762	HP:0008020	Progressive cone degeneration
OMIM:300155	CA4	762	HP:0001417	X-linked inheritance
OMIM:300155	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:300155	CRB1	23418	HP:0008020	Progressive cone degeneration
OMIM:300155	CRB1	23418	HP:0001417	X-linked inheritance
OMIM:300155	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:300155	IMPG2	50939	HP:0008020	Progressive cone degeneration
OMIM:300155	IMPG2	50939	HP:0001417	X-linked inheritance
OMIM:300155	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:300155	ZNF513	130557	HP:0008020	Progressive cone degeneration
OMIM:300155	ZNF513	130557	HP:0001417	X-linked inheritance
OMIM:300155	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:300155	CRX	1406	HP:0008020	Progressive cone degeneration
OMIM:300155	CRX	1406	HP:0001417	X-linked inheritance
OMIM:300928	ZNF711	7552	HP:0000276	Long face
OMIM:300928	ZNF711	7552	HP:0002465	Poor speech
OMIM:300928	ZNF711	7552	HP:0000752	Hyperactivity
OMIM:300928	ZNF711	7552	HP:0001344	Absent speech
OMIM:300928	ZNF711	7552	HP:0000400	Macrotia
OMIM:300928	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300928	ZNF711	7552	HP:0001250	Seizures
OMIM:300928	ZNF711	7552	HP:0000486	Strabismus
OMIM:300928	ZNF711	7552	HP:0001263	Global developmental delay
OMIM:300928	IL1RAPL1	11141	HP:0000276	Long face
OMIM:300928	IL1RAPL1	11141	HP:0002465	Poor speech
OMIM:300928	IL1RAPL1	11141	HP:0000752	Hyperactivity
OMIM:300928	IL1RAPL1	11141	HP:0001344	Absent speech
OMIM:300928	IL1RAPL1	11141	HP:0000400	Macrotia
OMIM:300928	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300928	IL1RAPL1	11141	HP:0001250	Seizures
OMIM:300928	IL1RAPL1	11141	HP:0000486	Strabismus
OMIM:300928	IL1RAPL1	11141	HP:0001263	Global developmental delay
OMIM:300928	ACSL4	2182	HP:0000276	Long face
OMIM:300928	ACSL4	2182	HP:0002465	Poor speech
OMIM:300928	ACSL4	2182	HP:0000752	Hyperactivity
OMIM:300928	ACSL4	2182	HP:0001344	Absent speech
OMIM:300928	ACSL4	2182	HP:0000400	Macrotia
OMIM:300928	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300928	ACSL4	2182	HP:0001250	Seizures
OMIM:300928	ACSL4	2182	HP:0000486	Strabismus
OMIM:300928	ACSL4	2182	HP:0001263	Global developmental delay
OMIM:300928	PAK3	5063	HP:0000276	Long face
OMIM:300928	PAK3	5063	HP:0002465	Poor speech
OMIM:300928	PAK3	5063	HP:0000752	Hyperactivity
OMIM:300928	PAK3	5063	HP:0001344	Absent speech
OMIM:300928	PAK3	5063	HP:0000400	Macrotia
OMIM:300928	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300928	PAK3	5063	HP:0001250	Seizures
OMIM:300928	PAK3	5063	HP:0000486	Strabismus
OMIM:300928	PAK3	5063	HP:0001263	Global developmental delay
OMIM:300928	SYP	6855	HP:0000276	Long face
OMIM:300928	SYP	6855	HP:0002465	Poor speech
OMIM:300928	SYP	6855	HP:0000752	Hyperactivity
OMIM:300928	SYP	6855	HP:0001344	Absent speech
OMIM:300928	SYP	6855	HP:0000400	Macrotia
OMIM:300928	SYP	6855	HP:0001249	Intellectual disability
OMIM:300928	SYP	6855	HP:0001250	Seizures
OMIM:300928	SYP	6855	HP:0000486	Strabismus
OMIM:300928	SYP	6855	HP:0001263	Global developmental delay
OMIM:300928	FTSJ1	24140	HP:0000276	Long face
OMIM:300928	FTSJ1	24140	HP:0002465	Poor speech
OMIM:300928	FTSJ1	24140	HP:0000752	Hyperactivity
OMIM:300928	FTSJ1	24140	HP:0001344	Absent speech
OMIM:300928	FTSJ1	24140	HP:0000400	Macrotia
OMIM:300928	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300928	FTSJ1	24140	HP:0001250	Seizures
OMIM:300928	FTSJ1	24140	HP:0000486	Strabismus
OMIM:300928	FTSJ1	24140	HP:0001263	Global developmental delay
OMIM:300928	DLG3	1741	HP:0000276	Long face
OMIM:300928	DLG3	1741	HP:0002465	Poor speech
OMIM:300928	DLG3	1741	HP:0000752	Hyperactivity
OMIM:300928	DLG3	1741	HP:0001344	Absent speech
OMIM:300928	DLG3	1741	HP:0000400	Macrotia
OMIM:300928	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300928	DLG3	1741	HP:0001250	Seizures
OMIM:300928	DLG3	1741	HP:0000486	Strabismus
OMIM:300928	DLG3	1741	HP:0001263	Global developmental delay
OMIM:300928	PTCHD1	139411	HP:0000276	Long face
OMIM:300928	PTCHD1	139411	HP:0002465	Poor speech
OMIM:300928	PTCHD1	139411	HP:0000752	Hyperactivity
OMIM:300928	PTCHD1	139411	HP:0001344	Absent speech
OMIM:300928	PTCHD1	139411	HP:0000400	Macrotia
OMIM:300928	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300928	PTCHD1	139411	HP:0001250	Seizures
OMIM:300928	PTCHD1	139411	HP:0000486	Strabismus
OMIM:300928	PTCHD1	139411	HP:0001263	Global developmental delay
OMIM:300928	UPF3B	65109	HP:0000276	Long face
OMIM:300928	UPF3B	65109	HP:0002465	Poor speech
OMIM:300928	UPF3B	65109	HP:0000752	Hyperactivity
OMIM:300928	UPF3B	65109	HP:0001344	Absent speech
OMIM:300928	UPF3B	65109	HP:0000400	Macrotia
OMIM:300928	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300928	UPF3B	65109	HP:0001250	Seizures
OMIM:300928	UPF3B	65109	HP:0000486	Strabismus
OMIM:300928	UPF3B	65109	HP:0001263	Global developmental delay
OMIM:300928	ZNF81	347344	HP:0000276	Long face
OMIM:300928	ZNF81	347344	HP:0002465	Poor speech
OMIM:300928	ZNF81	347344	HP:0000752	Hyperactivity
OMIM:300928	ZNF81	347344	HP:0001344	Absent speech
OMIM:300928	ZNF81	347344	HP:0000400	Macrotia
OMIM:300928	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300928	ZNF81	347344	HP:0001250	Seizures
OMIM:300928	ZNF81	347344	HP:0000486	Strabismus
OMIM:300928	ZNF81	347344	HP:0001263	Global developmental delay
OMIM:300928	RAB39B	116442	HP:0000276	Long face
OMIM:300928	RAB39B	116442	HP:0002465	Poor speech
OMIM:300928	RAB39B	116442	HP:0000752	Hyperactivity
OMIM:300928	RAB39B	116442	HP:0001344	Absent speech
OMIM:300928	RAB39B	116442	HP:0000400	Macrotia
OMIM:300928	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300928	RAB39B	116442	HP:0001250	Seizures
OMIM:300928	RAB39B	116442	HP:0000486	Strabismus
OMIM:300928	RAB39B	116442	HP:0001263	Global developmental delay
OMIM:300928	DMD	1756	HP:0000276	Long face
OMIM:300928	DMD	1756	HP:0002465	Poor speech
OMIM:300928	DMD	1756	HP:0000752	Hyperactivity
OMIM:300928	DMD	1756	HP:0001344	Absent speech
OMIM:300928	DMD	1756	HP:0000400	Macrotia
OMIM:300928	DMD	1756	HP:0001249	Intellectual disability
OMIM:300928	DMD	1756	HP:0001250	Seizures
OMIM:300928	DMD	1756	HP:0000486	Strabismus
OMIM:300928	DMD	1756	HP:0001263	Global developmental delay
OMIM:300928	MAGT1	84061	HP:0000276	Long face
OMIM:300928	MAGT1	84061	HP:0002465	Poor speech
OMIM:300928	MAGT1	84061	HP:0000752	Hyperactivity
OMIM:300928	MAGT1	84061	HP:0001344	Absent speech
OMIM:300928	MAGT1	84061	HP:0000400	Macrotia
OMIM:300928	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300928	MAGT1	84061	HP:0001250	Seizures
OMIM:300928	MAGT1	84061	HP:0000486	Strabismus
OMIM:300928	MAGT1	84061	HP:0001263	Global developmental delay
OMIM:300928	MID2	11043	HP:0000276	Long face
OMIM:300928	MID2	11043	HP:0002465	Poor speech
OMIM:300928	MID2	11043	HP:0000752	Hyperactivity
OMIM:300928	MID2	11043	HP:0001344	Absent speech
OMIM:300928	MID2	11043	HP:0000400	Macrotia
OMIM:300928	MID2	11043	HP:0001249	Intellectual disability
OMIM:300928	MID2	11043	HP:0001250	Seizures
OMIM:300928	MID2	11043	HP:0000486	Strabismus
OMIM:300928	MID2	11043	HP:0001263	Global developmental delay
OMIM:300928	GDI1	2664	HP:0000276	Long face
OMIM:300928	GDI1	2664	HP:0002465	Poor speech
OMIM:300928	GDI1	2664	HP:0000752	Hyperactivity
OMIM:300928	GDI1	2664	HP:0001344	Absent speech
OMIM:300928	GDI1	2664	HP:0000400	Macrotia
OMIM:300928	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300928	GDI1	2664	HP:0001250	Seizures
OMIM:300928	GDI1	2664	HP:0000486	Strabismus
OMIM:300928	GDI1	2664	HP:0001263	Global developmental delay
OMIM:300928	ZNF41	7592	HP:0000276	Long face
OMIM:300928	ZNF41	7592	HP:0002465	Poor speech
OMIM:300928	ZNF41	7592	HP:0000752	Hyperactivity
OMIM:300928	ZNF41	7592	HP:0001344	Absent speech
OMIM:300928	ZNF41	7592	HP:0000400	Macrotia
OMIM:300928	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300928	ZNF41	7592	HP:0001250	Seizures
OMIM:300928	ZNF41	7592	HP:0000486	Strabismus
OMIM:300928	ZNF41	7592	HP:0001263	Global developmental delay
OMIM:300928	MECP2	4204	HP:0000276	Long face
OMIM:300928	MECP2	4204	HP:0002465	Poor speech
OMIM:300928	MECP2	4204	HP:0000752	Hyperactivity
OMIM:300928	MECP2	4204	HP:0001344	Absent speech
OMIM:300928	MECP2	4204	HP:0000400	Macrotia
OMIM:300928	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300928	MECP2	4204	HP:0001250	Seizures
OMIM:300928	MECP2	4204	HP:0000486	Strabismus
OMIM:300928	MECP2	4204	HP:0001263	Global developmental delay
OMIM:300928	HCFC1	3054	HP:0000276	Long face
OMIM:300928	HCFC1	3054	HP:0002465	Poor speech
OMIM:300928	HCFC1	3054	HP:0000752	Hyperactivity
OMIM:300928	HCFC1	3054	HP:0001344	Absent speech
OMIM:300928	HCFC1	3054	HP:0000400	Macrotia
OMIM:300928	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300928	HCFC1	3054	HP:0001250	Seizures
OMIM:300928	HCFC1	3054	HP:0000486	Strabismus
OMIM:300928	HCFC1	3054	HP:0001263	Global developmental delay
OMIM:300928	USP9X	8239	HP:0000276	Long face
OMIM:300928	USP9X	8239	HP:0002465	Poor speech
OMIM:300928	USP9X	8239	HP:0000752	Hyperactivity
OMIM:300928	USP9X	8239	HP:0001344	Absent speech
OMIM:300928	USP9X	8239	HP:0000400	Macrotia
OMIM:300928	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300928	USP9X	8239	HP:0001250	Seizures
OMIM:300928	USP9X	8239	HP:0000486	Strabismus
OMIM:300928	USP9X	8239	HP:0001263	Global developmental delay
OMIM:300928	MED12	9968	HP:0000276	Long face
OMIM:300928	MED12	9968	HP:0002465	Poor speech
OMIM:300928	MED12	9968	HP:0000752	Hyperactivity
OMIM:300928	MED12	9968	HP:0001344	Absent speech
OMIM:300928	MED12	9968	HP:0000400	Macrotia
OMIM:300928	MED12	9968	HP:0001249	Intellectual disability
OMIM:300928	MED12	9968	HP:0001250	Seizures
OMIM:300928	MED12	9968	HP:0000486	Strabismus
OMIM:300928	MED12	9968	HP:0001263	Global developmental delay
OMIM:300928	ZNF674	641339	HP:0000276	Long face
OMIM:300928	ZNF674	641339	HP:0002465	Poor speech
OMIM:300928	ZNF674	641339	HP:0000752	Hyperactivity
OMIM:300928	ZNF674	641339	HP:0001344	Absent speech
OMIM:300928	ZNF674	641339	HP:0000400	Macrotia
OMIM:300928	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300928	ZNF674	641339	HP:0001250	Seizures
OMIM:300928	ZNF674	641339	HP:0000486	Strabismus
OMIM:300928	ZNF674	641339	HP:0001263	Global developmental delay
OMIM:300928	ARHGEF6	9459	HP:0000276	Long face
OMIM:300928	ARHGEF6	9459	HP:0002465	Poor speech
OMIM:300928	ARHGEF6	9459	HP:0000752	Hyperactivity
OMIM:300928	ARHGEF6	9459	HP:0001344	Absent speech
OMIM:300928	ARHGEF6	9459	HP:0000400	Macrotia
OMIM:300928	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300928	ARHGEF6	9459	HP:0001250	Seizures
OMIM:300928	ARHGEF6	9459	HP:0000486	Strabismus
OMIM:300928	ARHGEF6	9459	HP:0001263	Global developmental delay
OMIM:300928	RPS6KA3	6197	HP:0000276	Long face
OMIM:300928	RPS6KA3	6197	HP:0002465	Poor speech
OMIM:300928	RPS6KA3	6197	HP:0000752	Hyperactivity
OMIM:300928	RPS6KA3	6197	HP:0001344	Absent speech
OMIM:300928	RPS6KA3	6197	HP:0000400	Macrotia
OMIM:300928	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300928	RPS6KA3	6197	HP:0001250	Seizures
OMIM:300928	RPS6KA3	6197	HP:0000486	Strabismus
OMIM:300928	RPS6KA3	6197	HP:0001263	Global developmental delay
OMIM:300928	IQSEC2	23096	HP:0000276	Long face
OMIM:300928	IQSEC2	23096	HP:0002465	Poor speech
OMIM:300928	IQSEC2	23096	HP:0000752	Hyperactivity
OMIM:300928	IQSEC2	23096	HP:0001344	Absent speech
OMIM:300928	IQSEC2	23096	HP:0000400	Macrotia
OMIM:300928	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300928	IQSEC2	23096	HP:0001250	Seizures
OMIM:300928	IQSEC2	23096	HP:0000486	Strabismus
OMIM:300928	IQSEC2	23096	HP:0001263	Global developmental delay
OMIM:300928	AGTR2	186	HP:0000276	Long face
OMIM:300928	AGTR2	186	HP:0002465	Poor speech
OMIM:300928	AGTR2	186	HP:0000752	Hyperactivity
OMIM:300928	AGTR2	186	HP:0001344	Absent speech
OMIM:300928	AGTR2	186	HP:0000400	Macrotia
OMIM:300928	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300928	AGTR2	186	HP:0001250	Seizures
OMIM:300928	AGTR2	186	HP:0000486	Strabismus
OMIM:300928	AGTR2	186	HP:0001263	Global developmental delay
OMIM:300928	ARX	170302	HP:0000276	Long face
OMIM:300928	ARX	170302	HP:0002465	Poor speech
OMIM:300928	ARX	170302	HP:0000752	Hyperactivity
OMIM:300928	ARX	170302	HP:0001344	Absent speech
OMIM:300928	ARX	170302	HP:0000400	Macrotia
OMIM:300928	ARX	170302	HP:0001249	Intellectual disability
OMIM:300928	ARX	170302	HP:0001250	Seizures
OMIM:300928	ARX	170302	HP:0000486	Strabismus
OMIM:300928	ARX	170302	HP:0001263	Global developmental delay
OMIM:300928	ALG13	79868	HP:0000276	Long face
OMIM:300928	ALG13	79868	HP:0002465	Poor speech
OMIM:300928	ALG13	79868	HP:0000752	Hyperactivity
OMIM:300928	ALG13	79868	HP:0001344	Absent speech
OMIM:300928	ALG13	79868	HP:0000400	Macrotia
OMIM:300928	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300928	ALG13	79868	HP:0001250	Seizures
OMIM:300928	ALG13	79868	HP:0000486	Strabismus
OMIM:300928	ALG13	79868	HP:0001263	Global developmental delay
OMIM:300928	TSPAN7	7102	HP:0000276	Long face
OMIM:300928	TSPAN7	7102	HP:0002465	Poor speech
OMIM:300928	TSPAN7	7102	HP:0000752	Hyperactivity
OMIM:300928	TSPAN7	7102	HP:0001344	Absent speech
OMIM:300928	TSPAN7	7102	HP:0000400	Macrotia
OMIM:300928	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300928	TSPAN7	7102	HP:0001250	Seizures
OMIM:300928	TSPAN7	7102	HP:0000486	Strabismus
OMIM:300928	TSPAN7	7102	HP:0001263	Global developmental delay
OMIM:607107	TP53	7157	HP:0010982	Polygenic inheritance
OMIM:615923	NPR2	4882	HP:0010055	Broad hallux
OMIM:615923	NPR2	4882	HP:0002650	Scoliosis
OMIM:615923	NPR2	4882	HP:0000938	Osteopenia
OMIM:615923	NPR2	4882	HP:0001166	Arachnodactyly
OMIM:140700	HBA2	3040	HP:0000006	Autosomal dominant inheritance
OMIM:140700	HBA2	3040	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:140700	HBB	3043	HP:0000006	Autosomal dominant inheritance
OMIM:140700	HBB	3043	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:140700	HBA1	3039	HP:0000006	Autosomal dominant inheritance
OMIM:140700	HBA1	3039	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:170400	KCNE3	10008	HP:0003829	Incomplete penetrance
OMIM:170400	KCNE3	10008	HP:0000006	Autosomal dominant inheritance
OMIM:170400	KCNE3	10008	HP:0003198	Myopathy
OMIM:170400	SCN4A	6329	HP:0003829	Incomplete penetrance
OMIM:170400	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:170400	SCN4A	6329	HP:0003198	Myopathy
OMIM:170400	CACNA1S	779	HP:0003829	Incomplete penetrance
OMIM:170400	CACNA1S	779	HP:0000006	Autosomal dominant inheritance
OMIM:170400	CACNA1S	779	HP:0003198	Myopathy
OMIM:615300	CLPP	8192	HP:0000786	Primary amenorrhea
OMIM:615300	CLPP	8192	HP:0000007	Autosomal recessive inheritance
OMIM:615300	CLPP	8192	HP:0000130	Abnormality of the uterus
OMIM:615300	CLPP	8192	HP:0001730	Progressive hearing impairment
OMIM:615300	LARS2	23395	HP:0000786	Primary amenorrhea
OMIM:615300	LARS2	23395	HP:0000007	Autosomal recessive inheritance
OMIM:615300	LARS2	23395	HP:0000130	Abnormality of the uterus
OMIM:615300	LARS2	23395	HP:0001730	Progressive hearing impairment
OMIM:615300	C10ORF2	56652	HP:0000786	Primary amenorrhea
OMIM:615300	C10ORF2	56652	HP:0000007	Autosomal recessive inheritance
OMIM:615300	C10ORF2	56652	HP:0000130	Abnormality of the uterus
OMIM:615300	C10ORF2	56652	HP:0001730	Progressive hearing impairment
OMIM:615300	HARS2	23438	HP:0000786	Primary amenorrhea
OMIM:615300	HARS2	23438	HP:0000007	Autosomal recessive inheritance
OMIM:615300	HARS2	23438	HP:0000130	Abnormality of the uterus
OMIM:615300	HARS2	23438	HP:0001730	Progressive hearing impairment
OMIM:615300	HSD17B4	3295	HP:0000786	Primary amenorrhea
OMIM:615300	HSD17B4	3295	HP:0000007	Autosomal recessive inheritance
OMIM:615300	HSD17B4	3295	HP:0000130	Abnormality of the uterus
OMIM:615300	HSD17B4	3295	HP:0001730	Progressive hearing impairment
OMIM:610612	AIPL1	23746	HP:0007875	Congenital blindness
OMIM:610612	AIPL1	23746	HP:0000639	Nystagmus
OMIM:610612	AIPL1	23746	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	NMNAT1	64802	HP:0007875	Congenital blindness
OMIM:610612	NMNAT1	64802	HP:0000639	Nystagmus
OMIM:610612	NMNAT1	64802	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	SPATA7	55812	HP:0007875	Congenital blindness
OMIM:610612	SPATA7	55812	HP:0000639	Nystagmus
OMIM:610612	SPATA7	55812	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	RDH12	145226	HP:0007875	Congenital blindness
OMIM:610612	RDH12	145226	HP:0000639	Nystagmus
OMIM:610612	RDH12	145226	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	RPGRIP1	57096	HP:0007875	Congenital blindness
OMIM:610612	RPGRIP1	57096	HP:0000639	Nystagmus
OMIM:610612	RPGRIP1	57096	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	RPE65	6121	HP:0007875	Congenital blindness
OMIM:610612	RPE65	6121	HP:0000639	Nystagmus
OMIM:610612	RPE65	6121	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	LCA5	167691	HP:0007875	Congenital blindness
OMIM:610612	LCA5	167691	HP:0000639	Nystagmus
OMIM:610612	LCA5	167691	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	LRAT	9227	HP:0007875	Congenital blindness
OMIM:610612	LRAT	9227	HP:0000639	Nystagmus
OMIM:610612	LRAT	9227	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	IFT140	9742	HP:0007875	Congenital blindness
OMIM:610612	IFT140	9742	HP:0000639	Nystagmus
OMIM:610612	IFT140	9742	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	TULP1	7287	HP:0007875	Congenital blindness
OMIM:610612	TULP1	7287	HP:0000639	Nystagmus
OMIM:610612	TULP1	7287	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	GUCY2D	3000	HP:0007875	Congenital blindness
OMIM:610612	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:610612	GUCY2D	3000	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	CEP290	80184	HP:0007875	Congenital blindness
OMIM:610612	CEP290	80184	HP:0000639	Nystagmus
OMIM:610612	CEP290	80184	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	IQCB1	9657	HP:0007875	Congenital blindness
OMIM:610612	IQCB1	9657	HP:0000639	Nystagmus
OMIM:610612	IQCB1	9657	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	KCNJ13	3769	HP:0007875	Congenital blindness
OMIM:610612	KCNJ13	3769	HP:0000639	Nystagmus
OMIM:610612	KCNJ13	3769	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	CRB1	23418	HP:0007875	Congenital blindness
OMIM:610612	CRB1	23418	HP:0000639	Nystagmus
OMIM:610612	CRB1	23418	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	GDF6	392255	HP:0007875	Congenital blindness
OMIM:610612	GDF6	392255	HP:0000639	Nystagmus
OMIM:610612	GDF6	392255	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	RD3	343035	HP:0007875	Congenital blindness
OMIM:610612	RD3	343035	HP:0000639	Nystagmus
OMIM:610612	RD3	343035	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	CRX	1406	HP:0007875	Congenital blindness
OMIM:610612	CRX	1406	HP:0000639	Nystagmus
OMIM:610612	CRX	1406	HP:0008002	Abnormality of macular pigmentation
OMIM:610612	IMPDH1	3614	HP:0007875	Congenital blindness
OMIM:610612	IMPDH1	3614	HP:0000639	Nystagmus
OMIM:610612	IMPDH1	3614	HP:0008002	Abnormality of macular pigmentation
OMIM:600965	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:600965	DIAPH1	1729	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	DIAPH1	1729	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:600965	CEACAM16	388551	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	CEACAM16	388551	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:600965	SLC17A8	246213	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	SLC17A8	246213	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:600965	TJP2	9414	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	TJP2	9414	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:600965	ACTG1	71	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	ACTG1	71	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:600965	CCDC50	152137	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	CCDC50	152137	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:600965	MIR96	407053	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	MIR96	407053	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:600965	GJB2	2706	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	GJB2	2706	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:600965	POU4F3	5459	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	POU4F3	5459	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:600965	GJB3	2707	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	GJB3	2707	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:600965	MYH9	4627	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	MYH9	4627	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:600965	CRYM	1428	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	CRYM	1428	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:600965	COL11A2	1302	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	COL11A2	1302	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:600965	EYA4	2070	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	EYA4	2070	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:600965	DFNA5	1687	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	DFNA5	1687	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:600965	DIAPH3	81624	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	DIAPH3	81624	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:600965	TMC1	117531	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	TMC1	117531	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:600965	COCH	1690	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	COCH	1690	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:600965	OSBPL2	9885	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	OSBPL2	9885	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:600965	SIX1	6495	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	SIX1	6495	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:600965	TECTA	7007	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	TECTA	7007	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:600965	MYO1A	4640	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	MYO1A	4640	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:600965	MYO1C	4641	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	MYO1C	4641	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:600965	MYO6	4646	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	MYO6	4646	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:600965	MYO7A	4647	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	MYO7A	4647	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:600965	GRHL2	79977	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	GRHL2	79977	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:600965	DIABLO	56616	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	DIABLO	56616	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:600965	MYH14	79784	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	MYH14	79784	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:600965	P2RX2	22953	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	P2RX2	22953	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:600965	WFS1	7466	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	WFS1	7466	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:600965	TNC	3371	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	TNC	3371	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:600965	KCNQ4	9132	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	KCNQ4	9132	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:600965	HOMER2	9455	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	HOMER2	9455	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:600965	GJB6	10804	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	GJB6	10804	HP:0008573	Low-frequency sensorineural hearing impairment
OMIM:600965	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:600965	TBC1D24	57465	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600965	TBC1D24	57465	HP:0008573	Low-frequency sensorineural hearing impairment
ORPHANET:2995	ACTG1	71	HP:0000612	Iris coloboma
ORPHANET:2995	ACTG1	71	HP:0000286	Epicanthus
ORPHANET:2995	ACTG1	71	HP:0002120	Cerebral cortical atrophy
ORPHANET:2995	ACTG1	71	HP:0002269	Abnormality of neuronal migration
ORPHANET:2995	ACTG1	71	HP:0002553	Highly arched eyebrow
ORPHANET:2995	ACTG1	71	HP:0001100	Heterochromia iridis
ORPHANET:2995	ACTG1	71	HP:0000316	Hypertelorism
ORPHANET:2995	ACTG1	71	HP:0000343	Long philtrum
ORPHANET:2995	ACTG1	71	HP:0000567	Chorioretinal coloboma
ORPHANET:2995	ACTG1	71	HP:0000470	Short neck
ORPHANET:2995	ACTG1	71	HP:0000243	Trigonocephaly
ORPHANET:2995	ACTG1	71	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:2995	ACTG1	71	HP:0002650	Scoliosis
ORPHANET:2995	ACTG1	71	HP:0000293	Full cheeks
ORPHANET:2995	ACTG1	71	HP:0000252	Microcephaly
ORPHANET:2995	ACTG1	71	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2995	ACTG1	71	HP:0002637	Cerebral ischemia
ORPHANET:2995	ACTG1	71	HP:0000588	Optic nerve coloboma
ORPHANET:2995	ACTG1	71	HP:0100543	Cognitive impairment
ORPHANET:2995	ACTG1	71	HP:0000465	Webbed neck
ORPHANET:2995	ACTG1	71	HP:0002162	Low posterior hairline
ORPHANET:2995	ACTG1	71	HP:0000154	Wide mouth
ORPHANET:2995	ACTG1	71	HP:0000494	Downslanted palpebral fissures
ORPHANET:2995	ACTG1	71	HP:0000508	Ptosis
ORPHANET:2995	ACTG1	71	HP:0000307	Pointed chin
ORPHANET:2995	ACTG1	71	HP:0002167	Neurological speech impairment
ORPHANET:2995	ACTG1	71	HP:0005105	Abnormal nasal morphology
ORPHANET:2995	ACTG1	71	HP:0001177	Preaxial hand polydactyly
ORPHANET:2995	ACTG1	71	HP:0000482	Microcornea
ORPHANET:2995	ACTG1	71	HP:0002652	Skeletal dysplasia
ORPHANET:2995	ACTG1	71	HP:0000506	Telecanthus
ORPHANET:2995	ACTG1	71	HP:0000347	Micrognathia
ORPHANET:2995	ACTG1	71	HP:0001250	Seizures
ORPHANET:2995	ACTG1	71	HP:0000233	Thin vermilion border
ORPHANET:2995	ACTG1	71	HP:0000280	Coarse facial features
ORPHANET:2995	ACTG1	71	HP:0001376	Limitation of joint mobility
ORPHANET:2995	ACTB	60	HP:0000612	Iris coloboma
ORPHANET:2995	ACTB	60	HP:0000286	Epicanthus
ORPHANET:2995	ACTB	60	HP:0002120	Cerebral cortical atrophy
ORPHANET:2995	ACTB	60	HP:0002269	Abnormality of neuronal migration
ORPHANET:2995	ACTB	60	HP:0002553	Highly arched eyebrow
ORPHANET:2995	ACTB	60	HP:0001100	Heterochromia iridis
ORPHANET:2995	ACTB	60	HP:0000316	Hypertelorism
ORPHANET:2995	ACTB	60	HP:0000343	Long philtrum
ORPHANET:2995	ACTB	60	HP:0000567	Chorioretinal coloboma
ORPHANET:2995	ACTB	60	HP:0000470	Short neck
ORPHANET:2995	ACTB	60	HP:0000243	Trigonocephaly
ORPHANET:2995	ACTB	60	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:2995	ACTB	60	HP:0002650	Scoliosis
ORPHANET:2995	ACTB	60	HP:0000293	Full cheeks
ORPHANET:2995	ACTB	60	HP:0000252	Microcephaly
ORPHANET:2995	ACTB	60	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2995	ACTB	60	HP:0002637	Cerebral ischemia
ORPHANET:2995	ACTB	60	HP:0000588	Optic nerve coloboma
ORPHANET:2995	ACTB	60	HP:0100543	Cognitive impairment
ORPHANET:2995	ACTB	60	HP:0000465	Webbed neck
ORPHANET:2995	ACTB	60	HP:0002162	Low posterior hairline
ORPHANET:2995	ACTB	60	HP:0000154	Wide mouth
ORPHANET:2995	ACTB	60	HP:0000494	Downslanted palpebral fissures
ORPHANET:2995	ACTB	60	HP:0000508	Ptosis
ORPHANET:2995	ACTB	60	HP:0000307	Pointed chin
ORPHANET:2995	ACTB	60	HP:0002167	Neurological speech impairment
ORPHANET:2995	ACTB	60	HP:0005105	Abnormal nasal morphology
ORPHANET:2995	ACTB	60	HP:0001177	Preaxial hand polydactyly
ORPHANET:2995	ACTB	60	HP:0000482	Microcornea
ORPHANET:2995	ACTB	60	HP:0002652	Skeletal dysplasia
ORPHANET:2995	ACTB	60	HP:0000506	Telecanthus
ORPHANET:2995	ACTB	60	HP:0000347	Micrognathia
ORPHANET:2995	ACTB	60	HP:0001250	Seizures
ORPHANET:2995	ACTB	60	HP:0000233	Thin vermilion border
ORPHANET:2995	ACTB	60	HP:0000280	Coarse facial features
ORPHANET:2995	ACTB	60	HP:0001376	Limitation of joint mobility
OMIM:613454	FOXG1	2290	HP:0001250	Seizures
OMIM:613454	FOXG1	2290	HP:0001332	Dystonia
OMIM:613454	FOXG1	2290	HP:0002186	Apraxia
OMIM:613454	FOXG1	2290	HP:0002353	EEG abnormality
OMIM:613454	FOXG1	2290	HP:0001762	Talipes equinovarus
OMIM:613454	FOXG1	2290	HP:0002020	Gastroesophageal reflux
OMIM:613454	FOXG1	2290	HP:0001257	Spasticity
OMIM:613454	FOXG1	2290	HP:0000253	Progressive microcephaly
OMIM:613454	FOXG1	2290	HP:0001319	Neonatal hypotonia
OMIM:613454	FOXG1	2290	HP:0002305	Athetosis
OMIM:613454	FOXG1	2290	HP:0001763	Pes planus
OMIM:613454	FOXG1	2290	HP:0002650	Scoliosis
OMIM:613454	FOXG1	2290	HP:0002307	Drooling
OMIM:613454	FOXG1	2290	HP:0002808	Kyphosis
OMIM:613454	FOXG1	2290	HP:0009879	Cortical gyral simplification
OMIM:613454	FOXG1	2290	HP:0100660	Dyskinesia
OMIM:613454	FOXG1	2290	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613454	FOXG1	2290	HP:0002072	Chorea
OMIM:613454	FOXG1	2290	HP:0010864	Intellectual disability, severe
OMIM:613454	FOXG1	2290	HP:0002019	Constipation
OMIM:613454	FOXG1	2290	HP:0001302	Pachygyria
OMIM:613454	FOXG1	2290	HP:0012448	Delayed myelination
OMIM:613454	FOXG1	2290	HP:0001270	Motor delay
OMIM:613454	NTNG1	22854	HP:0001250	Seizures
OMIM:613454	NTNG1	22854	HP:0001332	Dystonia
OMIM:613454	NTNG1	22854	HP:0002186	Apraxia
OMIM:613454	NTNG1	22854	HP:0002353	EEG abnormality
OMIM:613454	NTNG1	22854	HP:0001762	Talipes equinovarus
OMIM:613454	NTNG1	22854	HP:0002020	Gastroesophageal reflux
OMIM:613454	NTNG1	22854	HP:0001257	Spasticity
OMIM:613454	NTNG1	22854	HP:0000253	Progressive microcephaly
OMIM:613454	NTNG1	22854	HP:0001319	Neonatal hypotonia
OMIM:613454	NTNG1	22854	HP:0002305	Athetosis
OMIM:613454	NTNG1	22854	HP:0001763	Pes planus
OMIM:613454	NTNG1	22854	HP:0002650	Scoliosis
OMIM:613454	NTNG1	22854	HP:0002307	Drooling
OMIM:613454	NTNG1	22854	HP:0002808	Kyphosis
OMIM:613454	NTNG1	22854	HP:0009879	Cortical gyral simplification
OMIM:613454	NTNG1	22854	HP:0100660	Dyskinesia
OMIM:613454	NTNG1	22854	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613454	NTNG1	22854	HP:0002072	Chorea
OMIM:613454	NTNG1	22854	HP:0010864	Intellectual disability, severe
OMIM:613454	NTNG1	22854	HP:0002019	Constipation
OMIM:613454	NTNG1	22854	HP:0001302	Pachygyria
OMIM:613454	NTNG1	22854	HP:0012448	Delayed myelination
OMIM:613454	NTNG1	22854	HP:0001270	Motor delay
OMIM:613454	CDKL5	6792	HP:0001250	Seizures
OMIM:613454	CDKL5	6792	HP:0001332	Dystonia
OMIM:613454	CDKL5	6792	HP:0002186	Apraxia
OMIM:613454	CDKL5	6792	HP:0002353	EEG abnormality
OMIM:613454	CDKL5	6792	HP:0001762	Talipes equinovarus
OMIM:613454	CDKL5	6792	HP:0002020	Gastroesophageal reflux
OMIM:613454	CDKL5	6792	HP:0001257	Spasticity
OMIM:613454	CDKL5	6792	HP:0000253	Progressive microcephaly
OMIM:613454	CDKL5	6792	HP:0001319	Neonatal hypotonia
OMIM:613454	CDKL5	6792	HP:0002305	Athetosis
OMIM:613454	CDKL5	6792	HP:0001763	Pes planus
OMIM:613454	CDKL5	6792	HP:0002650	Scoliosis
OMIM:613454	CDKL5	6792	HP:0002307	Drooling
OMIM:613454	CDKL5	6792	HP:0002808	Kyphosis
OMIM:613454	CDKL5	6792	HP:0009879	Cortical gyral simplification
OMIM:613454	CDKL5	6792	HP:0100660	Dyskinesia
OMIM:613454	CDKL5	6792	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613454	CDKL5	6792	HP:0002072	Chorea
OMIM:613454	CDKL5	6792	HP:0010864	Intellectual disability, severe
OMIM:613454	CDKL5	6792	HP:0002019	Constipation
OMIM:613454	CDKL5	6792	HP:0001302	Pachygyria
OMIM:613454	CDKL5	6792	HP:0012448	Delayed myelination
OMIM:613454	CDKL5	6792	HP:0001270	Motor delay
OMIM:613454	MECP2	4204	HP:0001250	Seizures
OMIM:613454	MECP2	4204	HP:0001332	Dystonia
OMIM:613454	MECP2	4204	HP:0002186	Apraxia
OMIM:613454	MECP2	4204	HP:0002353	EEG abnormality
OMIM:613454	MECP2	4204	HP:0001762	Talipes equinovarus
OMIM:613454	MECP2	4204	HP:0002020	Gastroesophageal reflux
OMIM:613454	MECP2	4204	HP:0001257	Spasticity
OMIM:613454	MECP2	4204	HP:0000253	Progressive microcephaly
OMIM:613454	MECP2	4204	HP:0001319	Neonatal hypotonia
OMIM:613454	MECP2	4204	HP:0002305	Athetosis
OMIM:613454	MECP2	4204	HP:0001763	Pes planus
OMIM:613454	MECP2	4204	HP:0002650	Scoliosis
OMIM:613454	MECP2	4204	HP:0002307	Drooling
OMIM:613454	MECP2	4204	HP:0002808	Kyphosis
OMIM:613454	MECP2	4204	HP:0009879	Cortical gyral simplification
OMIM:613454	MECP2	4204	HP:0100660	Dyskinesia
OMIM:613454	MECP2	4204	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613454	MECP2	4204	HP:0002072	Chorea
OMIM:613454	MECP2	4204	HP:0010864	Intellectual disability, severe
OMIM:613454	MECP2	4204	HP:0002019	Constipation
OMIM:613454	MECP2	4204	HP:0001302	Pachygyria
OMIM:613454	MECP2	4204	HP:0012448	Delayed myelination
OMIM:613454	MECP2	4204	HP:0001270	Motor delay
OMIM:141900	HBB	3043	HP:0000961	Cyanosis
OMIM:141900	HBB	3043	HP:0001744	Splenomegaly
OMIM:141900	HBB	3043	HP:0001081	Cholelithiasis
OMIM:141900	HBB	3043	HP:0001901	Polycythemia
OMIM:141900	HBB	3043	HP:0001878	Hemolytic anemia
OMIM:141900	HBB	3043	HP:0000952	Jaundice
OMIM:141900	HBB	3043	HP:0000790	Hematuria
OMIM:141900	HBB	3043	HP:0002754	Osteomyelitis
OMIM:606164	TSR2	90121	HP:0001263	Global developmental delay
OMIM:606164	TSR2	90121	HP:0001972	Macrocytic anemia
OMIM:606164	TSR2	90121	HP:0011800	Hypoplasia of midface
OMIM:606164	TSR2	90121	HP:0000494	Downslanted palpebral fissures
OMIM:606164	TSR2	90121	HP:0000347	Micrognathia
OMIM:606164	TSR2	90121	HP:0004322	Short stature
OMIM:606164	TSR2	90121	HP:0008551	Microtia
OMIM:606164	RPS17	6218	HP:0001263	Global developmental delay
OMIM:606164	RPS17	6218	HP:0001972	Macrocytic anemia
OMIM:606164	RPS17	6218	HP:0011800	Hypoplasia of midface
OMIM:606164	RPS17	6218	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPS17	6218	HP:0000347	Micrognathia
OMIM:606164	RPS17	6218	HP:0004322	Short stature
OMIM:606164	RPS17	6218	HP:0008551	Microtia
OMIM:606164	RPL26	6154	HP:0001263	Global developmental delay
OMIM:606164	RPL26	6154	HP:0001972	Macrocytic anemia
OMIM:606164	RPL26	6154	HP:0011800	Hypoplasia of midface
OMIM:606164	RPL26	6154	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPL26	6154	HP:0000347	Micrognathia
OMIM:606164	RPL26	6154	HP:0004322	Short stature
OMIM:606164	RPL26	6154	HP:0008551	Microtia
OMIM:606164	RPL5	6125	HP:0001263	Global developmental delay
OMIM:606164	RPL5	6125	HP:0001972	Macrocytic anemia
OMIM:606164	RPL5	6125	HP:0011800	Hypoplasia of midface
OMIM:606164	RPL5	6125	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPL5	6125	HP:0000347	Micrognathia
OMIM:606164	RPL5	6125	HP:0004322	Short stature
OMIM:606164	RPL5	6125	HP:0008551	Microtia
OMIM:606164	RPS19	6223	HP:0001263	Global developmental delay
OMIM:606164	RPS19	6223	HP:0001972	Macrocytic anemia
OMIM:606164	RPS19	6223	HP:0011800	Hypoplasia of midface
OMIM:606164	RPS19	6223	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPS19	6223	HP:0000347	Micrognathia
OMIM:606164	RPS19	6223	HP:0004322	Short stature
OMIM:606164	RPS19	6223	HP:0008551	Microtia
OMIM:606164	RPS24	6229	HP:0001263	Global developmental delay
OMIM:606164	RPS24	6229	HP:0001972	Macrocytic anemia
OMIM:606164	RPS24	6229	HP:0011800	Hypoplasia of midface
OMIM:606164	RPS24	6229	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPS24	6229	HP:0000347	Micrognathia
OMIM:606164	RPS24	6229	HP:0004322	Short stature
OMIM:606164	RPS24	6229	HP:0008551	Microtia
OMIM:606164	RPL35A	6165	HP:0001263	Global developmental delay
OMIM:606164	RPL35A	6165	HP:0001972	Macrocytic anemia
OMIM:606164	RPL35A	6165	HP:0011800	Hypoplasia of midface
OMIM:606164	RPL35A	6165	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPL35A	6165	HP:0000347	Micrognathia
OMIM:606164	RPL35A	6165	HP:0004322	Short stature
OMIM:606164	RPL35A	6165	HP:0008551	Microtia
OMIM:606164	RPL11	6135	HP:0001263	Global developmental delay
OMIM:606164	RPL11	6135	HP:0001972	Macrocytic anemia
OMIM:606164	RPL11	6135	HP:0011800	Hypoplasia of midface
OMIM:606164	RPL11	6135	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPL11	6135	HP:0000347	Micrognathia
OMIM:606164	RPL11	6135	HP:0004322	Short stature
OMIM:606164	RPL11	6135	HP:0008551	Microtia
OMIM:606164	RPS26	6231	HP:0001263	Global developmental delay
OMIM:606164	RPS26	6231	HP:0001972	Macrocytic anemia
OMIM:606164	RPS26	6231	HP:0011800	Hypoplasia of midface
OMIM:606164	RPS26	6231	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPS26	6231	HP:0000347	Micrognathia
OMIM:606164	RPS26	6231	HP:0004322	Short stature
OMIM:606164	RPS26	6231	HP:0008551	Microtia
OMIM:606164	RPS7	6201	HP:0001263	Global developmental delay
OMIM:606164	RPS7	6201	HP:0001972	Macrocytic anemia
OMIM:606164	RPS7	6201	HP:0011800	Hypoplasia of midface
OMIM:606164	RPS7	6201	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPS7	6201	HP:0000347	Micrognathia
OMIM:606164	RPS7	6201	HP:0004322	Short stature
OMIM:606164	RPS7	6201	HP:0008551	Microtia
OMIM:606164	RPS28	6234	HP:0001263	Global developmental delay
OMIM:606164	RPS28	6234	HP:0001972	Macrocytic anemia
OMIM:606164	RPS28	6234	HP:0011800	Hypoplasia of midface
OMIM:606164	RPS28	6234	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPS28	6234	HP:0000347	Micrognathia
OMIM:606164	RPS28	6234	HP:0004322	Short stature
OMIM:606164	RPS28	6234	HP:0008551	Microtia
OMIM:606164	RPL15	6138	HP:0001263	Global developmental delay
OMIM:606164	RPL15	6138	HP:0001972	Macrocytic anemia
OMIM:606164	RPL15	6138	HP:0011800	Hypoplasia of midface
OMIM:606164	RPL15	6138	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPL15	6138	HP:0000347	Micrognathia
OMIM:606164	RPL15	6138	HP:0004322	Short stature
OMIM:606164	RPL15	6138	HP:0008551	Microtia
OMIM:606164	RPS29	6235	HP:0001263	Global developmental delay
OMIM:606164	RPS29	6235	HP:0001972	Macrocytic anemia
OMIM:606164	RPS29	6235	HP:0011800	Hypoplasia of midface
OMIM:606164	RPS29	6235	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPS29	6235	HP:0000347	Micrognathia
OMIM:606164	RPS29	6235	HP:0004322	Short stature
OMIM:606164	RPS29	6235	HP:0008551	Microtia
OMIM:606164	RPS10	6204	HP:0001263	Global developmental delay
OMIM:606164	RPS10	6204	HP:0001972	Macrocytic anemia
OMIM:606164	RPS10	6204	HP:0011800	Hypoplasia of midface
OMIM:606164	RPS10	6204	HP:0000494	Downslanted palpebral fissures
OMIM:606164	RPS10	6204	HP:0000347	Micrognathia
OMIM:606164	RPS10	6204	HP:0004322	Short stature
OMIM:606164	RPS10	6204	HP:0008551	Microtia
OMIM:606164	GATA1	2623	HP:0001263	Global developmental delay
OMIM:606164	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:606164	GATA1	2623	HP:0011800	Hypoplasia of midface
OMIM:606164	GATA1	2623	HP:0000494	Downslanted palpebral fissures
OMIM:606164	GATA1	2623	HP:0000347	Micrognathia
OMIM:606164	GATA1	2623	HP:0004322	Short stature
OMIM:606164	GATA1	2623	HP:0008551	Microtia
OMIM:608716	ASPM	259266	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	ASPM	259266	HP:0001249	Intellectual disability
OMIM:608716	ASPM	259266	HP:0001270	Motor delay
OMIM:608716	ASPM	259266	HP:0003577	Congenital onset
OMIM:608716	ASPM	259266	HP:0001250	Seizures
OMIM:608716	ASPM	259266	HP:0000365	Hearing impairment
OMIM:608716	ASPM	259266	HP:0000007	Autosomal recessive inheritance
OMIM:608716	ASPM	259266	HP:0002119	Ventriculomegaly
OMIM:608716	ASPM	259266	HP:0000340	Sloping forehead
OMIM:608716	ASPM	259266	HP:0004322	Short stature
OMIM:608716	ASPM	259266	HP:0009879	Cortical gyral simplification
OMIM:608716	ASPM	259266	HP:0002539	Cortical dysplasia
OMIM:608716	ASPM	259266	HP:0000252	Microcephaly
OMIM:608716	ASPM	259266	HP:0000750	Delayed speech and language development
OMIM:608716	ASPM	259266	HP:0001274	Agenesis of corpus callosum
OMIM:608716	MCPH1	79648	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	MCPH1	79648	HP:0001249	Intellectual disability
OMIM:608716	MCPH1	79648	HP:0001270	Motor delay
OMIM:608716	MCPH1	79648	HP:0003577	Congenital onset
OMIM:608716	MCPH1	79648	HP:0001250	Seizures
OMIM:608716	MCPH1	79648	HP:0000365	Hearing impairment
OMIM:608716	MCPH1	79648	HP:0000007	Autosomal recessive inheritance
OMIM:608716	MCPH1	79648	HP:0002119	Ventriculomegaly
OMIM:608716	MCPH1	79648	HP:0000340	Sloping forehead
OMIM:608716	MCPH1	79648	HP:0004322	Short stature
OMIM:608716	MCPH1	79648	HP:0009879	Cortical gyral simplification
OMIM:608716	MCPH1	79648	HP:0002539	Cortical dysplasia
OMIM:608716	MCPH1	79648	HP:0000252	Microcephaly
OMIM:608716	MCPH1	79648	HP:0000750	Delayed speech and language development
OMIM:608716	MCPH1	79648	HP:0001274	Agenesis of corpus callosum
OMIM:608716	ANKLE2	23141	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	ANKLE2	23141	HP:0001249	Intellectual disability
OMIM:608716	ANKLE2	23141	HP:0001270	Motor delay
OMIM:608716	ANKLE2	23141	HP:0003577	Congenital onset
OMIM:608716	ANKLE2	23141	HP:0001250	Seizures
OMIM:608716	ANKLE2	23141	HP:0000365	Hearing impairment
OMIM:608716	ANKLE2	23141	HP:0000007	Autosomal recessive inheritance
OMIM:608716	ANKLE2	23141	HP:0002119	Ventriculomegaly
OMIM:608716	ANKLE2	23141	HP:0000340	Sloping forehead
OMIM:608716	ANKLE2	23141	HP:0004322	Short stature
OMIM:608716	ANKLE2	23141	HP:0009879	Cortical gyral simplification
OMIM:608716	ANKLE2	23141	HP:0002539	Cortical dysplasia
OMIM:608716	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:608716	ANKLE2	23141	HP:0000750	Delayed speech and language development
OMIM:608716	ANKLE2	23141	HP:0001274	Agenesis of corpus callosum
OMIM:608716	SASS6	163786	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	SASS6	163786	HP:0001249	Intellectual disability
OMIM:608716	SASS6	163786	HP:0001270	Motor delay
OMIM:608716	SASS6	163786	HP:0003577	Congenital onset
OMIM:608716	SASS6	163786	HP:0001250	Seizures
OMIM:608716	SASS6	163786	HP:0000365	Hearing impairment
OMIM:608716	SASS6	163786	HP:0000007	Autosomal recessive inheritance
OMIM:608716	SASS6	163786	HP:0002119	Ventriculomegaly
OMIM:608716	SASS6	163786	HP:0000340	Sloping forehead
OMIM:608716	SASS6	163786	HP:0004322	Short stature
OMIM:608716	SASS6	163786	HP:0009879	Cortical gyral simplification
OMIM:608716	SASS6	163786	HP:0002539	Cortical dysplasia
OMIM:608716	SASS6	163786	HP:0000252	Microcephaly
OMIM:608716	SASS6	163786	HP:0000750	Delayed speech and language development
OMIM:608716	SASS6	163786	HP:0001274	Agenesis of corpus callosum
OMIM:608716	CDK5RAP2	55755	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	CDK5RAP2	55755	HP:0001249	Intellectual disability
OMIM:608716	CDK5RAP2	55755	HP:0001270	Motor delay
OMIM:608716	CDK5RAP2	55755	HP:0003577	Congenital onset
OMIM:608716	CDK5RAP2	55755	HP:0001250	Seizures
OMIM:608716	CDK5RAP2	55755	HP:0000365	Hearing impairment
OMIM:608716	CDK5RAP2	55755	HP:0000007	Autosomal recessive inheritance
OMIM:608716	CDK5RAP2	55755	HP:0002119	Ventriculomegaly
OMIM:608716	CDK5RAP2	55755	HP:0000340	Sloping forehead
OMIM:608716	CDK5RAP2	55755	HP:0004322	Short stature
OMIM:608716	CDK5RAP2	55755	HP:0009879	Cortical gyral simplification
OMIM:608716	CDK5RAP2	55755	HP:0002539	Cortical dysplasia
OMIM:608716	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:608716	CDK5RAP2	55755	HP:0000750	Delayed speech and language development
OMIM:608716	CDK5RAP2	55755	HP:0001274	Agenesis of corpus callosum
OMIM:608716	MFSD2A	84879	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	MFSD2A	84879	HP:0001249	Intellectual disability
OMIM:608716	MFSD2A	84879	HP:0001270	Motor delay
OMIM:608716	MFSD2A	84879	HP:0003577	Congenital onset
OMIM:608716	MFSD2A	84879	HP:0001250	Seizures
OMIM:608716	MFSD2A	84879	HP:0000365	Hearing impairment
OMIM:608716	MFSD2A	84879	HP:0000007	Autosomal recessive inheritance
OMIM:608716	MFSD2A	84879	HP:0002119	Ventriculomegaly
OMIM:608716	MFSD2A	84879	HP:0000340	Sloping forehead
OMIM:608716	MFSD2A	84879	HP:0004322	Short stature
OMIM:608716	MFSD2A	84879	HP:0009879	Cortical gyral simplification
OMIM:608716	MFSD2A	84879	HP:0002539	Cortical dysplasia
OMIM:608716	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:608716	MFSD2A	84879	HP:0000750	Delayed speech and language development
OMIM:608716	MFSD2A	84879	HP:0001274	Agenesis of corpus callosum
OMIM:608716	CEP152	22995	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	CEP152	22995	HP:0001249	Intellectual disability
OMIM:608716	CEP152	22995	HP:0001270	Motor delay
OMIM:608716	CEP152	22995	HP:0003577	Congenital onset
OMIM:608716	CEP152	22995	HP:0001250	Seizures
OMIM:608716	CEP152	22995	HP:0000365	Hearing impairment
OMIM:608716	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:608716	CEP152	22995	HP:0002119	Ventriculomegaly
OMIM:608716	CEP152	22995	HP:0000340	Sloping forehead
OMIM:608716	CEP152	22995	HP:0004322	Short stature
OMIM:608716	CEP152	22995	HP:0009879	Cortical gyral simplification
OMIM:608716	CEP152	22995	HP:0002539	Cortical dysplasia
OMIM:608716	CEP152	22995	HP:0000252	Microcephaly
OMIM:608716	CEP152	22995	HP:0000750	Delayed speech and language development
OMIM:608716	CEP152	22995	HP:0001274	Agenesis of corpus callosum
OMIM:608716	WDR62	284403	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	WDR62	284403	HP:0001249	Intellectual disability
OMIM:608716	WDR62	284403	HP:0001270	Motor delay
OMIM:608716	WDR62	284403	HP:0003577	Congenital onset
OMIM:608716	WDR62	284403	HP:0001250	Seizures
OMIM:608716	WDR62	284403	HP:0000365	Hearing impairment
OMIM:608716	WDR62	284403	HP:0000007	Autosomal recessive inheritance
OMIM:608716	WDR62	284403	HP:0002119	Ventriculomegaly
OMIM:608716	WDR62	284403	HP:0000340	Sloping forehead
OMIM:608716	WDR62	284403	HP:0004322	Short stature
OMIM:608716	WDR62	284403	HP:0009879	Cortical gyral simplification
OMIM:608716	WDR62	284403	HP:0002539	Cortical dysplasia
OMIM:608716	WDR62	284403	HP:0000252	Microcephaly
OMIM:608716	WDR62	284403	HP:0000750	Delayed speech and language development
OMIM:608716	WDR62	284403	HP:0001274	Agenesis of corpus callosum
OMIM:608716	PHC1	1911	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	PHC1	1911	HP:0001249	Intellectual disability
OMIM:608716	PHC1	1911	HP:0001270	Motor delay
OMIM:608716	PHC1	1911	HP:0003577	Congenital onset
OMIM:608716	PHC1	1911	HP:0001250	Seizures
OMIM:608716	PHC1	1911	HP:0000365	Hearing impairment
OMIM:608716	PHC1	1911	HP:0000007	Autosomal recessive inheritance
OMIM:608716	PHC1	1911	HP:0002119	Ventriculomegaly
OMIM:608716	PHC1	1911	HP:0000340	Sloping forehead
OMIM:608716	PHC1	1911	HP:0004322	Short stature
OMIM:608716	PHC1	1911	HP:0009879	Cortical gyral simplification
OMIM:608716	PHC1	1911	HP:0002539	Cortical dysplasia
OMIM:608716	PHC1	1911	HP:0000252	Microcephaly
OMIM:608716	PHC1	1911	HP:0000750	Delayed speech and language development
OMIM:608716	PHC1	1911	HP:0001274	Agenesis of corpus callosum
OMIM:608716	CASC5	57082	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	CASC5	57082	HP:0001249	Intellectual disability
OMIM:608716	CASC5	57082	HP:0001270	Motor delay
OMIM:608716	CASC5	57082	HP:0003577	Congenital onset
OMIM:608716	CASC5	57082	HP:0001250	Seizures
OMIM:608716	CASC5	57082	HP:0000365	Hearing impairment
OMIM:608716	CASC5	57082	HP:0000007	Autosomal recessive inheritance
OMIM:608716	CASC5	57082	HP:0002119	Ventriculomegaly
OMIM:608716	CASC5	57082	HP:0000340	Sloping forehead
OMIM:608716	CASC5	57082	HP:0004322	Short stature
OMIM:608716	CASC5	57082	HP:0009879	Cortical gyral simplification
OMIM:608716	CASC5	57082	HP:0002539	Cortical dysplasia
OMIM:608716	CASC5	57082	HP:0000252	Microcephaly
OMIM:608716	CASC5	57082	HP:0000750	Delayed speech and language development
OMIM:608716	CASC5	57082	HP:0001274	Agenesis of corpus callosum
OMIM:608716	CENPJ	55835	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	CENPJ	55835	HP:0001249	Intellectual disability
OMIM:608716	CENPJ	55835	HP:0001270	Motor delay
OMIM:608716	CENPJ	55835	HP:0003577	Congenital onset
OMIM:608716	CENPJ	55835	HP:0001250	Seizures
OMIM:608716	CENPJ	55835	HP:0000365	Hearing impairment
OMIM:608716	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:608716	CENPJ	55835	HP:0002119	Ventriculomegaly
OMIM:608716	CENPJ	55835	HP:0000340	Sloping forehead
OMIM:608716	CENPJ	55835	HP:0004322	Short stature
OMIM:608716	CENPJ	55835	HP:0009879	Cortical gyral simplification
OMIM:608716	CENPJ	55835	HP:0002539	Cortical dysplasia
OMIM:608716	CENPJ	55835	HP:0000252	Microcephaly
OMIM:608716	CENPJ	55835	HP:0000750	Delayed speech and language development
OMIM:608716	CENPJ	55835	HP:0001274	Agenesis of corpus callosum
OMIM:608716	STIL	6491	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	STIL	6491	HP:0001249	Intellectual disability
OMIM:608716	STIL	6491	HP:0001270	Motor delay
OMIM:608716	STIL	6491	HP:0003577	Congenital onset
OMIM:608716	STIL	6491	HP:0001250	Seizures
OMIM:608716	STIL	6491	HP:0000365	Hearing impairment
OMIM:608716	STIL	6491	HP:0000007	Autosomal recessive inheritance
OMIM:608716	STIL	6491	HP:0002119	Ventriculomegaly
OMIM:608716	STIL	6491	HP:0000340	Sloping forehead
OMIM:608716	STIL	6491	HP:0004322	Short stature
OMIM:608716	STIL	6491	HP:0009879	Cortical gyral simplification
OMIM:608716	STIL	6491	HP:0002539	Cortical dysplasia
OMIM:608716	STIL	6491	HP:0000252	Microcephaly
OMIM:608716	STIL	6491	HP:0000750	Delayed speech and language development
OMIM:608716	STIL	6491	HP:0001274	Agenesis of corpus callosum
OMIM:608716	CDK6	1021	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	CDK6	1021	HP:0001249	Intellectual disability
OMIM:608716	CDK6	1021	HP:0001270	Motor delay
OMIM:608716	CDK6	1021	HP:0003577	Congenital onset
OMIM:608716	CDK6	1021	HP:0001250	Seizures
OMIM:608716	CDK6	1021	HP:0000365	Hearing impairment
OMIM:608716	CDK6	1021	HP:0000007	Autosomal recessive inheritance
OMIM:608716	CDK6	1021	HP:0002119	Ventriculomegaly
OMIM:608716	CDK6	1021	HP:0000340	Sloping forehead
OMIM:608716	CDK6	1021	HP:0004322	Short stature
OMIM:608716	CDK6	1021	HP:0009879	Cortical gyral simplification
OMIM:608716	CDK6	1021	HP:0002539	Cortical dysplasia
OMIM:608716	CDK6	1021	HP:0000252	Microcephaly
OMIM:608716	CDK6	1021	HP:0000750	Delayed speech and language development
OMIM:608716	CDK6	1021	HP:0001274	Agenesis of corpus callosum
OMIM:608716	CEP135	9662	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	CEP135	9662	HP:0001249	Intellectual disability
OMIM:608716	CEP135	9662	HP:0001270	Motor delay
OMIM:608716	CEP135	9662	HP:0003577	Congenital onset
OMIM:608716	CEP135	9662	HP:0001250	Seizures
OMIM:608716	CEP135	9662	HP:0000365	Hearing impairment
OMIM:608716	CEP135	9662	HP:0000007	Autosomal recessive inheritance
OMIM:608716	CEP135	9662	HP:0002119	Ventriculomegaly
OMIM:608716	CEP135	9662	HP:0000340	Sloping forehead
OMIM:608716	CEP135	9662	HP:0004322	Short stature
OMIM:608716	CEP135	9662	HP:0009879	Cortical gyral simplification
OMIM:608716	CEP135	9662	HP:0002539	Cortical dysplasia
OMIM:608716	CEP135	9662	HP:0000252	Microcephaly
OMIM:608716	CEP135	9662	HP:0000750	Delayed speech and language development
OMIM:608716	CEP135	9662	HP:0001274	Agenesis of corpus callosum
OMIM:608716	CEP63	80254	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608716	CEP63	80254	HP:0001249	Intellectual disability
OMIM:608716	CEP63	80254	HP:0001270	Motor delay
OMIM:608716	CEP63	80254	HP:0003577	Congenital onset
OMIM:608716	CEP63	80254	HP:0001250	Seizures
OMIM:608716	CEP63	80254	HP:0000365	Hearing impairment
OMIM:608716	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:608716	CEP63	80254	HP:0002119	Ventriculomegaly
OMIM:608716	CEP63	80254	HP:0000340	Sloping forehead
OMIM:608716	CEP63	80254	HP:0004322	Short stature
OMIM:608716	CEP63	80254	HP:0009879	Cortical gyral simplification
OMIM:608716	CEP63	80254	HP:0002539	Cortical dysplasia
OMIM:608716	CEP63	80254	HP:0000252	Microcephaly
OMIM:608716	CEP63	80254	HP:0000750	Delayed speech and language development
OMIM:608716	CEP63	80254	HP:0001274	Agenesis of corpus callosum
OMIM:613388	SLC34A1	6569	HP:0004322	Short stature
OMIM:613388	SLC34A1	6569	HP:0000007	Autosomal recessive inheritance
OMIM:613388	SLC34A1	6569	HP:0000083	Renal insufficiency
OMIM:613388	SLC34A1	6569	HP:0000938	Osteopenia
OMIM:613388	SLC34A1	6569	HP:0002148	Hypophosphatemia
OMIM:613388	SLC34A1	6569	HP:0002150	Hypercalciuria
OMIM:613388	SLC34A1	6569	HP:0001324	Muscle weakness
OMIM:613388	EHHADH	1962	HP:0004322	Short stature
OMIM:613388	EHHADH	1962	HP:0000007	Autosomal recessive inheritance
OMIM:613388	EHHADH	1962	HP:0000083	Renal insufficiency
OMIM:613388	EHHADH	1962	HP:0000938	Osteopenia
OMIM:613388	EHHADH	1962	HP:0002148	Hypophosphatemia
OMIM:613388	EHHADH	1962	HP:0002150	Hypercalciuria
OMIM:613388	EHHADH	1962	HP:0001324	Muscle weakness
OMIM:273395	WNT3	7473	HP:0000775	Abnormality of the diaphragm
OMIM:273395	WNT3	7473	HP:0000028	Cryptorchidism
OMIM:273395	WNT3	7473	HP:0004408	Abnormality of the sense of smell
OMIM:273395	WNT3	7473	HP:0000347	Micrognathia
OMIM:273395	WNT3	7473	HP:0002777	Tracheal stenosis
OMIM:273395	WNT3	7473	HP:0000007	Autosomal recessive inheritance
OMIM:273395	WNT3	7473	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:273395	WNT3	7473	HP:0000202	Oral cleft
OMIM:273395	WNT3	7473	HP:0000175	Cleft palate
OMIM:273395	WNT3	7473	HP:0000482	Microcornea
OMIM:273395	WNT3	7473	HP:0009932	Single naris
OMIM:273395	WNT3	7473	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:273395	WNT3	7473	HP:0000003	Multicystic kidney dysplasia
OMIM:273395	WNT3	7473	HP:0000518	Cataract
OMIM:273395	WNT3	7473	HP:0002089	Pulmonary hypoplasia
OMIM:273395	WNT3	7473	HP:0009924	Aplasia/Hypoplasia involving the nose
OMIM:273395	WNT3	7473	HP:0001600	Abnormality of the larynx
OMIM:273395	WNT3	7473	HP:0000104	Renal agenesis
OMIM:273395	WNT3	7473	HP:0002023	Anal atresia
OMIM:273395	WNT3	7473	HP:0000453	Choanal atresia
OMIM:273395	WNT3	7473	HP:0000568	Microphthalmia
OMIM:273395	WNT3	7473	HP:0000160	Narrow mouth
OMIM:273395	WNT3	7473	HP:0000148	Vaginal atresia
OMIM:273395	WNT3	7473	HP:0100589	Urogenital fistula
OMIM:273395	WNT3	7473	HP:0000356	Abnormality of the outer ear
OMIM:273395	WNT3	7473	HP:0000238	Hydrocephalus
OMIM:273395	WNT3	7473	HP:0008697	Hypoplasia of the fallopian tube
OMIM:273395	WNT3	7473	HP:0000204	Cleft upper lip
OMIM:273395	WNT3	7473	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:273395	WNT3	7473	HP:0000369	Low-set ears
OMIM:273395	WNT3	7473	HP:0002101	Abnormal lung lobation
OMIM:273395	WNT3	7473	HP:0000612	Iris coloboma
OMIM:273395	WNT3	7473	HP:0000772	Abnormality of the ribs
OMIM:273395	WNT3	7473	HP:0100569	Abnormal vertebral ossification
OMIM:273395	WNT3	7473	HP:0001425	Heterogeneous
OMIM:273395	WNT3	7473	HP:0000648	Optic atrophy
OMIM:273395	WNT3	7473	HP:0001561	Polyhydramnios
OMIM:243700	DOCK8	81704	HP:0004313	Decreased antibody level in blood
OMIM:243700	DOCK8	81704	HP:0002099	Asthma
OMIM:243700	DOCK8	81704	HP:0002718	Recurrent bacterial infections
OMIM:243700	DOCK8	81704	HP:0000007	Autosomal recessive inheritance
OMIM:243700	DOCK8	81704	HP:0004429	Recurrent viral infections
OMIM:243700	DOCK8	81704	HP:0000964	Eczema
OMIM:243700	DOCK8	81704	HP:0200042	Skin ulcer
OMIM:243700	DOCK8	81704	HP:0005374	Cellular immunodeficiency
OMIM:243700	DOCK8	81704	HP:0000388	Otitis media
OMIM:243700	DOCK8	81704	HP:0200043	Verrucae
OMIM:243700	DOCK8	81704	HP:0000246	Sinusitis
OMIM:243700	DOCK8	81704	HP:0002841	Recurrent fungal infections
OMIM:243700	DOCK8	81704	HP:0001880	Eosinophilia
OMIM:243700	DOCK8	81704	HP:0003593	Infantile onset
OMIM:243700	DOCK8	81704	HP:0001047	Atopic dermatitis
OMIM:243700	DOCK8	81704	HP:0002664	Neoplasm
OMIM:609439	MSRB3	253827	HP:0001751	Vestibular dysfunction
OMIM:609439	MSRB3	253827	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:609439	BSND	7809	HP:0001751	Vestibular dysfunction
OMIM:609439	BSND	7809	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:609439	ESPN	83715	HP:0001751	Vestibular dysfunction
OMIM:609439	ESPN	83715	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:609439	DFNB31	25861	HP:0001751	Vestibular dysfunction
OMIM:609439	DFNB31	25861	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:609439	OTOA	146183	HP:0001751	Vestibular dysfunction
OMIM:609439	OTOA	146183	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:609439	GJA1	2697	HP:0001751	Vestibular dysfunction
OMIM:609439	GJA1	2697	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:609439	MET	4233	HP:0001751	Vestibular dysfunction
OMIM:609439	MET	4233	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:609439	CLDN14	23562	HP:0001751	Vestibular dysfunction
OMIM:609439	CLDN14	23562	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:609439	HGF	3082	HP:0001751	Vestibular dysfunction
OMIM:609439	HGF	3082	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:609439	PNPT1	87178	HP:0001751	Vestibular dysfunction
OMIM:609439	PNPT1	87178	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:609439	EPS8	2059	HP:0001751	Vestibular dysfunction
OMIM:609439	EPS8	2059	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:609439	MYO3A	53904	HP:0001751	Vestibular dysfunction
OMIM:609439	MYO3A	53904	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:609439	DCDC2	51473	HP:0001751	Vestibular dysfunction
OMIM:609439	DCDC2	51473	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:609439	GJB2	2706	HP:0001751	Vestibular dysfunction
OMIM:609439	GJB2	2706	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:609439	GJB3	2707	HP:0001751	Vestibular dysfunction
OMIM:609439	GJB3	2707	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:609439	CABP2	51475	HP:0001751	Vestibular dysfunction
OMIM:609439	CABP2	51475	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:609439	GRXCR2	643226	HP:0001751	Vestibular dysfunction
OMIM:609439	GRXCR2	643226	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:609439	SERPINB6	5269	HP:0001751	Vestibular dysfunction
OMIM:609439	SERPINB6	5269	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:609439	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:609439	CIB2	10518	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:609439	COL11A2	1302	HP:0001751	Vestibular dysfunction
OMIM:609439	COL11A2	1302	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:609439	FAM65B	9750	HP:0001751	Vestibular dysfunction
OMIM:609439	FAM65B	9750	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:609439	KARS	3735	HP:0001751	Vestibular dysfunction
OMIM:609439	KARS	3735	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:609439	LOXHD1	125336	HP:0001751	Vestibular dysfunction
OMIM:609439	LOXHD1	125336	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:609439	TMC1	117531	HP:0001751	Vestibular dysfunction
OMIM:609439	TMC1	117531	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:609439	CLIC5	53405	HP:0001751	Vestibular dysfunction
OMIM:609439	CLIC5	53405	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:609439	OTOF	9381	HP:0001751	Vestibular dysfunction
OMIM:609439	OTOF	9381	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:609439	MYO6	4646	HP:0001751	Vestibular dysfunction
OMIM:609439	MYO6	4646	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:609439	TMIE	259236	HP:0001751	Vestibular dysfunction
OMIM:609439	TMIE	259236	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:609439	MYO7A	4647	HP:0001751	Vestibular dysfunction
OMIM:609439	MYO7A	4647	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:609439	LRTOMT	220074	HP:0001751	Vestibular dysfunction
OMIM:609439	LRTOMT	220074	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:609439	OTOGL	283310	HP:0001751	Vestibular dysfunction
OMIM:609439	OTOGL	283310	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:609439	TPRN	286262	HP:0001751	Vestibular dysfunction
OMIM:609439	TPRN	286262	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:609439	SLC26A4	5172	HP:0001751	Vestibular dysfunction
OMIM:609439	SLC26A4	5172	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:609439	GJB6	10804	HP:0001751	Vestibular dysfunction
OMIM:609439	GJB6	10804	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:609439	DFNB59	494513	HP:0001751	Vestibular dysfunction
OMIM:609439	DFNB59	494513	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:609439	ESRRB	2103	HP:0001751	Vestibular dysfunction
OMIM:609439	ESRRB	2103	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:609439	TMPRSS3	64699	HP:0001751	Vestibular dysfunction
OMIM:609439	TMPRSS3	64699	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:609439	PTPRQ	374462	HP:0001751	Vestibular dysfunction
OMIM:609439	PTPRQ	374462	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:609439	SLC26A5	375611	HP:0001751	Vestibular dysfunction
OMIM:609439	SLC26A5	375611	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:609439	PCDH15	65217	HP:0001751	Vestibular dysfunction
OMIM:609439	PCDH15	65217	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:609439	TSPEAR	54084	HP:0001751	Vestibular dysfunction
OMIM:609439	TSPEAR	54084	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:609439	LHFPL5	222662	HP:0001751	Vestibular dysfunction
OMIM:609439	LHFPL5	222662	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:609439	TRIOBP	11078	HP:0001751	Vestibular dysfunction
OMIM:609439	TRIOBP	11078	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:609439	CDH23	64072	HP:0001751	Vestibular dysfunction
OMIM:609439	CDH23	64072	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:609439	RDX	5962	HP:0001751	Vestibular dysfunction
OMIM:609439	RDX	5962	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:609439	GPSM2	29899	HP:0001751	Vestibular dysfunction
OMIM:609439	GPSM2	29899	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:609439	ELMOD3	84173	HP:0001751	Vestibular dysfunction
OMIM:609439	ELMOD3	84173	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:609439	ILDR1	286676	HP:0001751	Vestibular dysfunction
OMIM:609439	ILDR1	286676	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:609439	GRXCR1	389207	HP:0001751	Vestibular dysfunction
OMIM:609439	GRXCR1	389207	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:609439	MARVELD2	153562	HP:0001751	Vestibular dysfunction
OMIM:609439	MARVELD2	153562	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:609439	STRC	161497	HP:0001751	Vestibular dysfunction
OMIM:609439	STRC	161497	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:609439	SLITRK6	84189	HP:0001751	Vestibular dysfunction
OMIM:609439	SLITRK6	84189	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:609439	TECTA	7007	HP:0001751	Vestibular dysfunction
OMIM:609439	TECTA	7007	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:609439	MYO15A	51168	HP:0001751	Vestibular dysfunction
OMIM:609439	MYO15A	51168	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:609439	USH1C	10083	HP:0001751	Vestibular dysfunction
OMIM:609439	USH1C	10083	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:609439	ADCY1	107	HP:0001751	Vestibular dysfunction
OMIM:609439	ADCY1	107	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:609439	SYNE4	163183	HP:0001751	Vestibular dysfunction
OMIM:609439	SYNE4	163183	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:609439	GIPC3	126326	HP:0001751	Vestibular dysfunction
OMIM:609439	GIPC3	126326	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:609439	TBC1D24	57465	HP:0001751	Vestibular dysfunction
OMIM:609439	TBC1D24	57465	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:609439	OTOG	340990	HP:0001751	Vestibular dysfunction
OMIM:609439	OTOG	340990	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:613325	SMARCA4	6597	HP:0100006	Neoplasm of the central nervous system
OMIM:613325	SMARCB1	6598	HP:0100006	Neoplasm of the central nervous system
OMIM:104500	AMBN	258	HP:0000006	Autosomal dominant inheritance
OMIM:104500	ENAM	10117	HP:0000006	Autosomal dominant inheritance
OMIM:104500	LAMB3	3914	HP:0000006	Autosomal dominant inheritance
OMIM:104500	ITGB6	3694	HP:0000006	Autosomal dominant inheritance
OMIM:601559	LIFR	3977	HP:0000682	Abnormality of dental enamel
OMIM:601559	LIFR	3977	HP:0000975	Hyperhidrosis
OMIM:601559	LIFR	3977	HP:0001252	Muscular hypotonia
OMIM:601559	LIFR	3977	HP:0000632	Lacrimation abnormality
OMIM:601559	LIFR	3977	HP:0002270	Abnormality of the autonomic nervous system
OMIM:601559	LIFR	3977	HP:0000347	Micrognathia
OMIM:601559	LIFR	3977	HP:0002104	Apnea
OMIM:601559	LIFR	3977	HP:0001315	Reduced tendon reflexes
OMIM:601559	LIFR	3977	HP:0001611	Nasal speech
OMIM:601559	LIFR	3977	HP:0009465	Ulnar deviation of finger
OMIM:601559	LIFR	3977	HP:0002650	Scoliosis
OMIM:601559	LIFR	3977	HP:0007328	Impaired pain sensation
OMIM:601559	LIFR	3977	HP:0002089	Pulmonary hypoplasia
OMIM:601559	LIFR	3977	HP:0008824	Hypoplastic iliac body
OMIM:601559	LIFR	3977	HP:0002757	Recurrent fractures
OMIM:601559	LIFR	3977	HP:0003196	Short nose
OMIM:601559	LIFR	3977	HP:0000470	Short neck
OMIM:601559	LIFR	3977	HP:0002007	Frontal bossing
OMIM:601559	LIFR	3977	HP:0000007	Autosomal recessive inheritance
OMIM:601559	LIFR	3977	HP:0002099	Asthma
OMIM:601559	LIFR	3977	HP:0001609	Hoarse voice
OMIM:601559	LIFR	3977	HP:0000369	Low-set ears
OMIM:601559	LIFR	3977	HP:0002015	Dysphagia
OMIM:601559	LIFR	3977	HP:0002980	Femoral bowing
OMIM:601559	LIFR	3977	HP:0011968	Feeding difficulties
OMIM:601559	LIFR	3977	HP:0008872	Feeding difficulties in infancy
OMIM:601559	LIFR	3977	HP:0004684	Talipes valgus
OMIM:601559	LIFR	3977	HP:0001511	Intrauterine growth retardation
OMIM:601559	LIFR	3977	HP:0002093	Respiratory insufficiency
OMIM:601559	LIFR	3977	HP:0000960	Sacral dimple
OMIM:601559	LIFR	3977	HP:0009803	Short phalanx of finger
OMIM:601559	LIFR	3977	HP:0006380	Knee flexion contracture
OMIM:601559	LIFR	3977	HP:0000954	Single transverse palmar crease
OMIM:601559	LIFR	3977	HP:0000963	Thin skin
OMIM:601559	LIFR	3977	HP:0005736	Short tibia
OMIM:601559	LIFR	3977	HP:0012745	Short palpebral fissure
OMIM:601559	LIFR	3977	HP:0002756	Pathologic fracture
OMIM:601559	LIFR	3977	HP:0004322	Short stature
OMIM:601559	LIFR	3977	HP:0001562	Oligohydramnios
OMIM:601559	LIFR	3977	HP:0002982	Tibial bowing
OMIM:601559	LIFR	3977	HP:0003401	Paresthesia
OMIM:601559	LIFR	3977	HP:0012810	Wide nasal base
OMIM:601559	LIFR	3977	HP:0011800	Hypoplasia of midface
OMIM:601559	LIFR	3977	HP:0002652	Skeletal dysplasia
OMIM:601559	LIFR	3977	HP:0002987	Elbow flexion contracture
OMIM:601559	LIFR	3977	HP:0001181	Adducted thumb
OMIM:601559	LIFR	3977	HP:0007759	Opacification of the corneal stroma
OMIM:601559	LIFR	3977	HP:0000939	Osteoporosis
OMIM:601559	LIFR	3977	HP:0002983	Micromelia
OMIM:601559	LIFR	3977	HP:0001883	Talipes
OMIM:601559	LIFR	3977	HP:0000272	Malar flattening
OMIM:601559	LIFR	3977	HP:0002857	Genu valgum
OMIM:601559	LIFR	3977	HP:0000821	Hypothyroidism
OMIM:601559	LIFR	3977	HP:0000966	Hypohidrosis
OMIM:601559	LIFR	3977	HP:0003015	Flared metaphysis
OMIM:612794	ACTC1	70	HP:0001631	Atria septal defect
OMIM:615378	GATA4	2626	HP:0012248	Prolonged PR interval
OMIM:615378	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:615378	GATA4	2626	HP:0000822	Hypertension
OMIM:615378	GATA4	2626	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	GATA4	2626	HP:0012251	ST segment elevation
OMIM:615378	GATA6	2627	HP:0012248	Prolonged PR interval
OMIM:615378	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:615378	GATA6	2627	HP:0000822	Hypertension
OMIM:615378	GATA6	2627	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	GATA6	2627	HP:0012251	ST segment elevation
OMIM:615378	KCNE2	9992	HP:0012248	Prolonged PR interval
OMIM:615378	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:615378	KCNE2	9992	HP:0000822	Hypertension
OMIM:615378	KCNE2	9992	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	KCNE2	9992	HP:0012251	ST segment elevation
OMIM:615378	KCNQ1	3784	HP:0012248	Prolonged PR interval
OMIM:615378	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:615378	KCNQ1	3784	HP:0000822	Hypertension
OMIM:615378	KCNQ1	3784	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	KCNQ1	3784	HP:0012251	ST segment elevation
OMIM:615378	KCNE1	3753	HP:0012248	Prolonged PR interval
OMIM:615378	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:615378	KCNE1	3753	HP:0000822	Hypertension
OMIM:615378	KCNE1	3753	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	KCNE1	3753	HP:0012251	ST segment elevation
OMIM:615378	NKX2-5	1482	HP:0012248	Prolonged PR interval
OMIM:615378	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:615378	NKX2-5	1482	HP:0000822	Hypertension
OMIM:615378	NKX2-5	1482	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	NKX2-5	1482	HP:0012251	ST segment elevation
OMIM:615378	ABCC9	10060	HP:0012248	Prolonged PR interval
OMIM:615378	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:615378	ABCC9	10060	HP:0000822	Hypertension
OMIM:615378	ABCC9	10060	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	ABCC9	10060	HP:0012251	ST segment elevation
OMIM:615378	GJA5	2702	HP:0012248	Prolonged PR interval
OMIM:615378	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:615378	GJA5	2702	HP:0000822	Hypertension
OMIM:615378	GJA5	2702	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	GJA5	2702	HP:0012251	ST segment elevation
OMIM:615378	NPPA	4878	HP:0012248	Prolonged PR interval
OMIM:615378	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:615378	NPPA	4878	HP:0000822	Hypertension
OMIM:615378	NPPA	4878	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	NPPA	4878	HP:0012251	ST segment elevation
OMIM:615378	KCNJ2	3759	HP:0012248	Prolonged PR interval
OMIM:615378	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:615378	KCNJ2	3759	HP:0000822	Hypertension
OMIM:615378	KCNJ2	3759	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	KCNJ2	3759	HP:0012251	ST segment elevation
OMIM:615378	NKX2-6	137814	HP:0012248	Prolonged PR interval
OMIM:615378	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:615378	NKX2-6	137814	HP:0000822	Hypertension
OMIM:615378	NKX2-6	137814	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	NKX2-6	137814	HP:0012251	ST segment elevation
OMIM:615378	GATA5	140628	HP:0012248	Prolonged PR interval
OMIM:615378	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:615378	GATA5	140628	HP:0000822	Hypertension
OMIM:615378	GATA5	140628	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	GATA5	140628	HP:0012251	ST segment elevation
OMIM:615378	SCN2B	6327	HP:0012248	Prolonged PR interval
OMIM:615378	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:615378	SCN2B	6327	HP:0000822	Hypertension
OMIM:615378	SCN2B	6327	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	SCN2B	6327	HP:0012251	ST segment elevation
OMIM:615378	SCN3B	55800	HP:0012248	Prolonged PR interval
OMIM:615378	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:615378	SCN3B	55800	HP:0000822	Hypertension
OMIM:615378	SCN3B	55800	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	SCN3B	55800	HP:0012251	ST segment elevation
OMIM:615378	SCN4B	6330	HP:0012248	Prolonged PR interval
OMIM:615378	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:615378	SCN4B	6330	HP:0000822	Hypertension
OMIM:615378	SCN4B	6330	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	SCN4B	6330	HP:0012251	ST segment elevation
OMIM:615378	SCN5A	6331	HP:0012248	Prolonged PR interval
OMIM:615378	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:615378	SCN5A	6331	HP:0000822	Hypertension
OMIM:615378	SCN5A	6331	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	SCN5A	6331	HP:0012251	ST segment elevation
OMIM:615378	PITX2	5308	HP:0012248	Prolonged PR interval
OMIM:615378	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:615378	PITX2	5308	HP:0000822	Hypertension
OMIM:615378	PITX2	5308	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	PITX2	5308	HP:0012251	ST segment elevation
OMIM:615378	KCNA5	3741	HP:0012248	Prolonged PR interval
OMIM:615378	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
OMIM:615378	KCNA5	3741	HP:0000822	Hypertension
OMIM:615378	KCNA5	3741	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	KCNA5	3741	HP:0012251	ST segment elevation
OMIM:615378	NUP155	9631	HP:0012248	Prolonged PR interval
OMIM:615378	NUP155	9631	HP:0000006	Autosomal dominant inheritance
OMIM:615378	NUP155	9631	HP:0000822	Hypertension
OMIM:615378	NUP155	9631	HP:0004757	Paroxysmal atrial fibrillation
OMIM:615378	NUP155	9631	HP:0012251	ST segment elevation
OMIM:124060	CYP1A2	1544	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:124060	CYP1A2	1544	HP:0000006	Autosomal dominant inheritance
OMIM:603041	TYMP	1890	HP:0002024	Malabsorption
OMIM:603041	TYMP	1890	HP:0002352	Leukoencephalopathy
OMIM:603041	TYMP	1890	HP:0002460	Distal muscle weakness
OMIM:603041	TYMP	1890	HP:0000007	Autosomal recessive inheritance
OMIM:603041	TYMP	1890	HP:0003693	Distal amyotrophy
OMIM:603041	TYMP	1890	HP:0002936	Distal sensory impairment
OMIM:603041	TYMP	1890	HP:0002027	Abdominal pain
OMIM:603041	TYMP	1890	HP:0000407	Sensorineural hearing impairment
OMIM:603041	TYMP	1890	HP:0003128	Lactic acidosis
OMIM:603041	TYMP	1890	HP:0002579	Gastrointestinal dysmotility
OMIM:603041	TYMP	1890	HP:0002019	Constipation
OMIM:603041	TYMP	1890	HP:0001284	Areflexia
OMIM:603041	TYMP	1890	HP:0002013	Vomiting
OMIM:603041	TYMP	1890	HP:0003676	Progressive
OMIM:603041	TYMP	1890	HP:0007103	Hypointensity of cerebral white matter on MRI
OMIM:603041	TYMP	1890	HP:0004395	Malnutrition
OMIM:603041	TYMP	1890	HP:0000508	Ptosis
OMIM:603041	POLG	5428	HP:0002024	Malabsorption
OMIM:603041	POLG	5428	HP:0002352	Leukoencephalopathy
OMIM:603041	POLG	5428	HP:0002460	Distal muscle weakness
OMIM:603041	POLG	5428	HP:0000007	Autosomal recessive inheritance
OMIM:603041	POLG	5428	HP:0003693	Distal amyotrophy
OMIM:603041	POLG	5428	HP:0002936	Distal sensory impairment
OMIM:603041	POLG	5428	HP:0002027	Abdominal pain
OMIM:603041	POLG	5428	HP:0000407	Sensorineural hearing impairment
OMIM:603041	POLG	5428	HP:0003128	Lactic acidosis
OMIM:603041	POLG	5428	HP:0002579	Gastrointestinal dysmotility
OMIM:603041	POLG	5428	HP:0002019	Constipation
OMIM:603041	POLG	5428	HP:0001284	Areflexia
OMIM:603041	POLG	5428	HP:0002013	Vomiting
OMIM:603041	POLG	5428	HP:0003676	Progressive
OMIM:603041	POLG	5428	HP:0007103	Hypointensity of cerebral white matter on MRI
OMIM:603041	POLG	5428	HP:0004395	Malnutrition
OMIM:603041	POLG	5428	HP:0000508	Ptosis
OMIM:603041	RRM2B	50484	HP:0002024	Malabsorption
OMIM:603041	RRM2B	50484	HP:0002352	Leukoencephalopathy
OMIM:603041	RRM2B	50484	HP:0002460	Distal muscle weakness
OMIM:603041	RRM2B	50484	HP:0000007	Autosomal recessive inheritance
OMIM:603041	RRM2B	50484	HP:0003693	Distal amyotrophy
OMIM:603041	RRM2B	50484	HP:0002936	Distal sensory impairment
OMIM:603041	RRM2B	50484	HP:0002027	Abdominal pain
OMIM:603041	RRM2B	50484	HP:0000407	Sensorineural hearing impairment
OMIM:603041	RRM2B	50484	HP:0003128	Lactic acidosis
OMIM:603041	RRM2B	50484	HP:0002579	Gastrointestinal dysmotility
OMIM:603041	RRM2B	50484	HP:0002019	Constipation
OMIM:603041	RRM2B	50484	HP:0001284	Areflexia
OMIM:603041	RRM2B	50484	HP:0002013	Vomiting
OMIM:603041	RRM2B	50484	HP:0003676	Progressive
OMIM:603041	RRM2B	50484	HP:0007103	Hypointensity of cerebral white matter on MRI
OMIM:603041	RRM2B	50484	HP:0004395	Malnutrition
OMIM:603041	RRM2B	50484	HP:0000508	Ptosis
OMIM:151623	CHEK2	11200	HP:0100787	Prostate neoplasm
OMIM:151623	CHEK2	11200	HP:0002894	Neoplasm of the pancreas
OMIM:151623	CHEK2	11200	HP:0003002	Breast carcinoma
OMIM:151623	CHEK2	11200	HP:0000006	Autosomal dominant inheritance
OMIM:151623	CHEK2	11200	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:151623	CHEK2	11200	HP:0002669	Osteosarcoma
OMIM:151623	CHEK2	11200	HP:0030448	Soft tissue sarcoma
OMIM:151623	CHEK2	11200	HP:0002488	Acute leukemia
OMIM:151623	CHEK2	11200	HP:0012125	Prostate cancer
OMIM:151623	MDM2	4193	HP:0100787	Prostate neoplasm
OMIM:151623	MDM2	4193	HP:0002894	Neoplasm of the pancreas
OMIM:151623	MDM2	4193	HP:0003002	Breast carcinoma
OMIM:151623	MDM2	4193	HP:0000006	Autosomal dominant inheritance
OMIM:151623	MDM2	4193	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:151623	MDM2	4193	HP:0002669	Osteosarcoma
OMIM:151623	MDM2	4193	HP:0030448	Soft tissue sarcoma
OMIM:151623	MDM2	4193	HP:0002488	Acute leukemia
OMIM:151623	MDM2	4193	HP:0012125	Prostate cancer
OMIM:151623	TP53	7157	HP:0100787	Prostate neoplasm
OMIM:151623	TP53	7157	HP:0002894	Neoplasm of the pancreas
OMIM:151623	TP53	7157	HP:0003002	Breast carcinoma
OMIM:151623	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:151623	TP53	7157	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:151623	TP53	7157	HP:0002669	Osteosarcoma
OMIM:151623	TP53	7157	HP:0030448	Soft tissue sarcoma
OMIM:151623	TP53	7157	HP:0002488	Acute leukemia
OMIM:151623	TP53	7157	HP:0012125	Prostate cancer
OMIM:301900	PHF6	84295	HP:0001956	Truncal obesity
OMIM:301900	PHF6	84295	HP:0000280	Coarse facial features
OMIM:301900	PHF6	84295	HP:0000365	Hearing impairment
OMIM:301900	PHF6	84295	HP:0002808	Kyphosis
OMIM:301900	PHF6	84295	HP:0000490	Deeply set eye
OMIM:301900	PHF6	84295	HP:0001513	Obesity
OMIM:301900	PHF6	84295	HP:0008736	Hypoplasia of penis
OMIM:301900	PHF6	84295	HP:0001182	Tapered finger
OMIM:301900	PHF6	84295	HP:0000028	Cryptorchidism
OMIM:301900	PHF6	84295	HP:0000639	Nystagmus
OMIM:301900	PHF6	84295	HP:0009748	Large earlobe
OMIM:301900	PHF6	84295	HP:0000256	Macrocephaly
OMIM:301900	PHF6	84295	HP:0001831	Short toe
OMIM:301900	PHF6	84295	HP:0010864	Intellectual disability, severe
OMIM:301900	PHF6	84295	HP:0000336	Prominent supraorbital ridges
OMIM:301900	PHF6	84295	HP:0002353	EEG abnormality
OMIM:301900	PHF6	84295	HP:0004322	Short stature
OMIM:301900	PHF6	84295	HP:0000054	Micropenis
OMIM:301900	PHF6	84295	HP:0100543	Cognitive impairment
OMIM:301900	PHF6	84295	HP:0000581	Blepharophimosis
OMIM:301900	PHF6	84295	HP:0001250	Seizures
OMIM:301900	PHF6	84295	HP:0000400	Macrotia
OMIM:301900	PHF6	84295	HP:0001252	Muscular hypotonia
OMIM:301900	PHF6	84295	HP:0000202	Oral cleft
OMIM:301900	PHF6	84295	HP:0009830	Peripheral neuropathy
OMIM:301900	PHF6	84295	HP:0000518	Cataract
OMIM:301900	PHF6	84295	HP:0000252	Microcephaly
OMIM:301900	PHF6	84295	HP:0003272	Abnormality of the hip bone
OMIM:301900	PHF6	84295	HP:0000505	Visual impairment
OMIM:301900	PHF6	84295	HP:0000046	Scrotal hypoplasia
OMIM:301900	PHF6	84295	HP:0002650	Scoliosis
OMIM:301900	PHF6	84295	HP:0001419	X-linked recessive inheritance
OMIM:301900	PHF6	84295	HP:0003202	Skeletal muscle atrophy
OMIM:301900	PHF6	84295	HP:0000508	Ptosis
OMIM:301900	PHF6	84295	HP:0002684	Thickened calvaria
OMIM:301900	PHF6	84295	HP:0011362	Abnormal hair quantity
OMIM:301900	PHF6	84295	HP:0000574	Thick eyebrow
OMIM:301900	PHF6	84295	HP:0001382	Joint hypermobility
OMIM:607236	PANK2	80025	HP:0002015	Dysphagia
OMIM:607236	PANK2	80025	HP:0001332	Dystonia
OMIM:607236	PANK2	80025	HP:0000726	Dementia
OMIM:607236	PANK2	80025	HP:0001260	Dysarthria
OMIM:607236	PANK2	80025	HP:0003563	Hypobetalipoproteinemia
OMIM:607236	PANK2	80025	HP:0003621	Juvenile onset
OMIM:607236	PANK2	80025	HP:0000007	Autosomal recessive inheritance
OMIM:607236	PANK2	80025	HP:0001257	Spasticity
OMIM:607236	PANK2	80025	HP:0000510	Rod-cone dystrophy
OMIM:607236	PANK2	80025	HP:0003677	Slow progression
ORPHANET:994	MUSK	4593	HP:0100022	Abnormality of movement
ORPHANET:994	MUSK	4593	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:994	MUSK	4593	HP:0100490	Camptodactyly of finger
ORPHANET:994	MUSK	4593	HP:0001511	Intrauterine growth retardation
ORPHANET:994	MUSK	4593	HP:0001557	Prenatal movement abnormality
ORPHANET:994	MUSK	4593	HP:0002093	Respiratory insufficiency
ORPHANET:994	MUSK	4593	HP:0001561	Polyhydramnios
ORPHANET:994	MUSK	4593	HP:0000316	Hypertelorism
ORPHANET:994	MUSK	4593	HP:0001376	Limitation of joint mobility
ORPHANET:994	MUSK	4593	HP:0005280	Depressed nasal bridge
ORPHANET:994	MUSK	4593	HP:0002650	Scoliosis
ORPHANET:994	MUSK	4593	HP:0001305	Dandy-Walker malformation
ORPHANET:994	MUSK	4593	HP:0000175	Cleft palate
ORPHANET:994	MUSK	4593	HP:0000347	Micrognathia
ORPHANET:994	MUSK	4593	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:994	MUSK	4593	HP:0003202	Skeletal muscle atrophy
ORPHANET:994	MUSK	4593	HP:0000028	Cryptorchidism
ORPHANET:994	MUSK	4593	HP:0001883	Talipes
ORPHANET:994	MUSK	4593	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:994	MUSK	4593	HP:0000476	Cystic hygroma
ORPHANET:994	DOK7	285489	HP:0100022	Abnormality of movement
ORPHANET:994	DOK7	285489	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:994	DOK7	285489	HP:0100490	Camptodactyly of finger
ORPHANET:994	DOK7	285489	HP:0001511	Intrauterine growth retardation
ORPHANET:994	DOK7	285489	HP:0001557	Prenatal movement abnormality
ORPHANET:994	DOK7	285489	HP:0002093	Respiratory insufficiency
ORPHANET:994	DOK7	285489	HP:0001561	Polyhydramnios
ORPHANET:994	DOK7	285489	HP:0000316	Hypertelorism
ORPHANET:994	DOK7	285489	HP:0001376	Limitation of joint mobility
ORPHANET:994	DOK7	285489	HP:0005280	Depressed nasal bridge
ORPHANET:994	DOK7	285489	HP:0002650	Scoliosis
ORPHANET:994	DOK7	285489	HP:0001305	Dandy-Walker malformation
ORPHANET:994	DOK7	285489	HP:0000175	Cleft palate
ORPHANET:994	DOK7	285489	HP:0000347	Micrognathia
ORPHANET:994	DOK7	285489	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:994	DOK7	285489	HP:0003202	Skeletal muscle atrophy
ORPHANET:994	DOK7	285489	HP:0000028	Cryptorchidism
ORPHANET:994	DOK7	285489	HP:0001883	Talipes
ORPHANET:994	DOK7	285489	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:994	DOK7	285489	HP:0000476	Cystic hygroma
ORPHANET:994	RAPSN	5913	HP:0100022	Abnormality of movement
ORPHANET:994	RAPSN	5913	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:994	RAPSN	5913	HP:0100490	Camptodactyly of finger
ORPHANET:994	RAPSN	5913	HP:0001511	Intrauterine growth retardation
ORPHANET:994	RAPSN	5913	HP:0001557	Prenatal movement abnormality
ORPHANET:994	RAPSN	5913	HP:0002093	Respiratory insufficiency
ORPHANET:994	RAPSN	5913	HP:0001561	Polyhydramnios
ORPHANET:994	RAPSN	5913	HP:0000316	Hypertelorism
ORPHANET:994	RAPSN	5913	HP:0001376	Limitation of joint mobility
ORPHANET:994	RAPSN	5913	HP:0005280	Depressed nasal bridge
ORPHANET:994	RAPSN	5913	HP:0002650	Scoliosis
ORPHANET:994	RAPSN	5913	HP:0001305	Dandy-Walker malformation
ORPHANET:994	RAPSN	5913	HP:0000175	Cleft palate
ORPHANET:994	RAPSN	5913	HP:0000347	Micrognathia
ORPHANET:994	RAPSN	5913	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:994	RAPSN	5913	HP:0003202	Skeletal muscle atrophy
ORPHANET:994	RAPSN	5913	HP:0000028	Cryptorchidism
ORPHANET:994	RAPSN	5913	HP:0001883	Talipes
ORPHANET:994	RAPSN	5913	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:994	RAPSN	5913	HP:0000476	Cystic hygroma
OMIM:137800	ERBB2	2064	HP:0001428	Somatic mutation
OMIM:137800	ERBB2	2064	HP:0012174	Glioblastoma multiforme
OMIM:137800	ERBB2	2064	HP:0002888	Ependymoma
OMIM:137800	ERBB2	2064	HP:0000006	Autosomal dominant inheritance
OMIM:137800	ERBB2	2064	HP:0100843	Glioblastoma
OMIM:137800	POT1	25913	HP:0001428	Somatic mutation
OMIM:137800	POT1	25913	HP:0012174	Glioblastoma multiforme
OMIM:137800	POT1	25913	HP:0002888	Ependymoma
OMIM:137800	POT1	25913	HP:0000006	Autosomal dominant inheritance
OMIM:137800	POT1	25913	HP:0100843	Glioblastoma
OMIM:137800	IDH2	3418	HP:0001428	Somatic mutation
OMIM:137800	IDH2	3418	HP:0012174	Glioblastoma multiforme
OMIM:137800	IDH2	3418	HP:0002888	Ependymoma
OMIM:137800	IDH2	3418	HP:0000006	Autosomal dominant inheritance
OMIM:137800	IDH2	3418	HP:0100843	Glioblastoma
OMIM:612581	MBD5	55777	HP:0001249	Intellectual disability
OMIM:612581	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:612581	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:612581	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:612581	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:612581	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:612581	KIF1A	547	HP:0001249	Intellectual disability
OMIM:612581	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:612581	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:612581	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:612581	TCF4	6925	HP:0001249	Intellectual disability
OMIM:612581	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:612581	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:612581	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:612581	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:612581	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:612581	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:612581	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:612581	CDH15	1013	HP:0001249	Intellectual disability
OMIM:612581	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:612581	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:612581	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:612581	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:612581	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:612581	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:612581	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:612581	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:612581	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:263200	PKHD1	5314	HP:0006706	Cystic liver disease
OMIM:263200	PKHD1	5314	HP:0000007	Autosomal recessive inheritance
OMIM:263200	PKHD1	5314	HP:0001409	Portal hypertension
OMIM:263200	PKHD1	5314	HP:0000400	Macrotia
OMIM:263200	PKHD1	5314	HP:0000113	Polycystic kidney dysplasia
OMIM:263200	PKHD1	5314	HP:0000368	Low-set, posteriorly rotated ears
OMIM:263200	PKHD1	5314	HP:0001407	Hepatic cysts
OMIM:263200	PKHD1	5314	HP:0000347	Micrognathia
OMIM:263200	PKHD1	5314	HP:0002240	Hepatomegaly
OMIM:263200	PKHD1	5314	HP:0002089	Pulmonary hypoplasia
OMIM:263200	PKHD1	5314	HP:0001080	Biliary tract abnormality
OMIM:263200	PKHD1	5314	HP:0000083	Renal insufficiency
OMIM:263200	PKHD1	5314	HP:0001732	Abnormality of the pancreas
OMIM:263200	PKHD1	5314	HP:0000457	Depressed nasal ridge
OMIM:263200	PKHD1	5314	HP:0000107	Renal cyst
OMIM:263200	PKHD1	5314	HP:0002009	Potter facies
OMIM:263200	PKHD1	5314	HP:0001562	Oligohydramnios
OMIM:263200	PKHD1	5314	HP:0001744	Splenomegaly
OMIM:263200	PKHD1	5314	HP:0001944	Dehydration
OMIM:263200	PKHD1	5314	HP:0002093	Respiratory insufficiency
OMIM:263200	PKHD1	5314	HP:0008678	Renal hypoplasia/aplasia
OMIM:610202	CRYBA2	1412	HP:0000482	Microcornea
OMIM:610202	CRYBA2	1412	HP:0001104	Macular hypoplasia
OMIM:610202	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:610202	CRYBA2	1412	HP:0007976	Cerulean cataract
OMIM:610202	CRYBA2	1412	HP:0000612	Iris coloboma
OMIM:610202	CRYBA2	1412	HP:0007780	Cortical pulverulent cataract
OMIM:610202	CRYBA2	1412	HP:0000541	Retinal detachment
OMIM:610202	CRYBB1	1414	HP:0000482	Microcornea
OMIM:610202	CRYBB1	1414	HP:0001104	Macular hypoplasia
OMIM:610202	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:610202	CRYBB1	1414	HP:0007976	Cerulean cataract
OMIM:610202	CRYBB1	1414	HP:0000612	Iris coloboma
OMIM:610202	CRYBB1	1414	HP:0007780	Cortical pulverulent cataract
OMIM:610202	CRYBB1	1414	HP:0000541	Retinal detachment
OMIM:610202	AGK	55750	HP:0000482	Microcornea
OMIM:610202	AGK	55750	HP:0001104	Macular hypoplasia
OMIM:610202	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:610202	AGK	55750	HP:0007976	Cerulean cataract
OMIM:610202	AGK	55750	HP:0000612	Iris coloboma
OMIM:610202	AGK	55750	HP:0007780	Cortical pulverulent cataract
OMIM:610202	AGK	55750	HP:0000541	Retinal detachment
OMIM:610202	CRYBB2	1415	HP:0000482	Microcornea
OMIM:610202	CRYBB2	1415	HP:0001104	Macular hypoplasia
OMIM:610202	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:610202	CRYBB2	1415	HP:0007976	Cerulean cataract
OMIM:610202	CRYBB2	1415	HP:0000612	Iris coloboma
OMIM:610202	CRYBB2	1415	HP:0007780	Cortical pulverulent cataract
OMIM:610202	CRYBB2	1415	HP:0000541	Retinal detachment
OMIM:610202	VIM	7431	HP:0000482	Microcornea
OMIM:610202	VIM	7431	HP:0001104	Macular hypoplasia
OMIM:610202	VIM	7431	HP:0000006	Autosomal dominant inheritance
OMIM:610202	VIM	7431	HP:0007976	Cerulean cataract
OMIM:610202	VIM	7431	HP:0000612	Iris coloboma
OMIM:610202	VIM	7431	HP:0007780	Cortical pulverulent cataract
OMIM:610202	VIM	7431	HP:0000541	Retinal detachment
OMIM:610202	CRYGC	1420	HP:0000482	Microcornea
OMIM:610202	CRYGC	1420	HP:0001104	Macular hypoplasia
OMIM:610202	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:610202	CRYGC	1420	HP:0007976	Cerulean cataract
OMIM:610202	CRYGC	1420	HP:0000612	Iris coloboma
OMIM:610202	CRYGC	1420	HP:0007780	Cortical pulverulent cataract
OMIM:610202	CRYGC	1420	HP:0000541	Retinal detachment
OMIM:610202	GJA3	2700	HP:0000482	Microcornea
OMIM:610202	GJA3	2700	HP:0001104	Macular hypoplasia
OMIM:610202	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:610202	GJA3	2700	HP:0007976	Cerulean cataract
OMIM:610202	GJA3	2700	HP:0000612	Iris coloboma
OMIM:610202	GJA3	2700	HP:0007780	Cortical pulverulent cataract
OMIM:610202	GJA3	2700	HP:0000541	Retinal detachment
OMIM:610202	CRYGD	1421	HP:0000482	Microcornea
OMIM:610202	CRYGD	1421	HP:0001104	Macular hypoplasia
OMIM:610202	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:610202	CRYGD	1421	HP:0007976	Cerulean cataract
OMIM:610202	CRYGD	1421	HP:0000612	Iris coloboma
OMIM:610202	CRYGD	1421	HP:0007780	Cortical pulverulent cataract
OMIM:610202	CRYGD	1421	HP:0000541	Retinal detachment
OMIM:610202	LIM2	3982	HP:0000482	Microcornea
OMIM:610202	LIM2	3982	HP:0001104	Macular hypoplasia
OMIM:610202	LIM2	3982	HP:0000006	Autosomal dominant inheritance
OMIM:610202	LIM2	3982	HP:0007976	Cerulean cataract
OMIM:610202	LIM2	3982	HP:0000612	Iris coloboma
OMIM:610202	LIM2	3982	HP:0007780	Cortical pulverulent cataract
OMIM:610202	LIM2	3982	HP:0000541	Retinal detachment
OMIM:610202	GJA8	2703	HP:0000482	Microcornea
OMIM:610202	GJA8	2703	HP:0001104	Macular hypoplasia
OMIM:610202	GJA8	2703	HP:0000006	Autosomal dominant inheritance
OMIM:610202	GJA8	2703	HP:0007976	Cerulean cataract
OMIM:610202	GJA8	2703	HP:0000612	Iris coloboma
OMIM:610202	GJA8	2703	HP:0007780	Cortical pulverulent cataract
OMIM:610202	GJA8	2703	HP:0000541	Retinal detachment
OMIM:610202	GCNT2	2651	HP:0000482	Microcornea
OMIM:610202	GCNT2	2651	HP:0001104	Macular hypoplasia
OMIM:610202	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:610202	GCNT2	2651	HP:0007976	Cerulean cataract
OMIM:610202	GCNT2	2651	HP:0000612	Iris coloboma
OMIM:610202	GCNT2	2651	HP:0007780	Cortical pulverulent cataract
OMIM:610202	GCNT2	2651	HP:0000541	Retinal detachment
OMIM:610202	MIP	4284	HP:0000482	Microcornea
OMIM:610202	MIP	4284	HP:0001104	Macular hypoplasia
OMIM:610202	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:610202	MIP	4284	HP:0007976	Cerulean cataract
OMIM:610202	MIP	4284	HP:0000612	Iris coloboma
OMIM:610202	MIP	4284	HP:0007780	Cortical pulverulent cataract
OMIM:610202	MIP	4284	HP:0000541	Retinal detachment
OMIM:610202	MAF	4094	HP:0000482	Microcornea
OMIM:610202	MAF	4094	HP:0001104	Macular hypoplasia
OMIM:610202	MAF	4094	HP:0000006	Autosomal dominant inheritance
OMIM:610202	MAF	4094	HP:0007976	Cerulean cataract
OMIM:610202	MAF	4094	HP:0000612	Iris coloboma
OMIM:610202	MAF	4094	HP:0007780	Cortical pulverulent cataract
OMIM:610202	MAF	4094	HP:0000541	Retinal detachment
OMIM:608779	COG7	91949	HP:0001639	Hypertrophic cardiomyopathy
OMIM:608779	COG7	91949	HP:0001252	Muscular hypotonia
OMIM:608779	COG7	91949	HP:0010978	Abnormality of immune system physiology
OMIM:613803	CDT1	81620	HP:0010306	Short thorax
OMIM:613803	CDT1	81620	HP:0003100	Slender long bone
OMIM:613803	CDT1	81620	HP:0011968	Feeding difficulties
OMIM:613803	CDT1	81620	HP:0000773	Short ribs
OMIM:613803	CDT1	81620	HP:0000325	Triangular face
OMIM:613803	CDT1	81620	HP:0001511	Intrauterine growth retardation
OMIM:613803	CDT1	81620	HP:0006532	Recurrent pneumonia
OMIM:613803	CDT1	81620	HP:0000028	Cryptorchidism
OMIM:613803	CDT1	81620	HP:0002094	Dyspnea
OMIM:613803	CDT1	81620	HP:0002812	Coxa vara
OMIM:613803	CDT1	81620	HP:0000252	Microcephaly
OMIM:613803	CDT1	81620	HP:0000046	Scrotal hypoplasia
OMIM:613803	CDT1	81620	HP:0000327	Hypoplasia of the maxilla
OMIM:613803	CDT1	81620	HP:0000160	Narrow mouth
OMIM:613803	CDT1	81620	HP:0000179	Thick lower lip vermilion
OMIM:613803	CDT1	81620	HP:0000308	Microretrognathia
OMIM:613803	CDT1	81620	HP:0002970	Genu varum
OMIM:613803	CDT1	81620	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:613803	CDT1	81620	HP:0001508	Failure to thrive
OMIM:613803	CDT1	81620	HP:0008551	Microtia
OMIM:613803	CDT1	81620	HP:0002750	Delayed skeletal maturation
OMIM:613803	CDT1	81620	HP:0000007	Autosomal recessive inheritance
OMIM:613803	CDT1	81620	HP:0008665	Clitoral hypertrophy
OMIM:613803	CDT1	81620	HP:0000774	Narrow chest
OMIM:613803	ORC1	4998	HP:0010306	Short thorax
OMIM:613803	ORC1	4998	HP:0003100	Slender long bone
OMIM:613803	ORC1	4998	HP:0011968	Feeding difficulties
OMIM:613803	ORC1	4998	HP:0000773	Short ribs
OMIM:613803	ORC1	4998	HP:0000325	Triangular face
OMIM:613803	ORC1	4998	HP:0001511	Intrauterine growth retardation
OMIM:613803	ORC1	4998	HP:0006532	Recurrent pneumonia
OMIM:613803	ORC1	4998	HP:0000028	Cryptorchidism
OMIM:613803	ORC1	4998	HP:0002094	Dyspnea
OMIM:613803	ORC1	4998	HP:0002812	Coxa vara
OMIM:613803	ORC1	4998	HP:0000252	Microcephaly
OMIM:613803	ORC1	4998	HP:0000046	Scrotal hypoplasia
OMIM:613803	ORC1	4998	HP:0000327	Hypoplasia of the maxilla
OMIM:613803	ORC1	4998	HP:0000160	Narrow mouth
OMIM:613803	ORC1	4998	HP:0000179	Thick lower lip vermilion
OMIM:613803	ORC1	4998	HP:0000308	Microretrognathia
OMIM:613803	ORC1	4998	HP:0002970	Genu varum
OMIM:613803	ORC1	4998	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:613803	ORC1	4998	HP:0001508	Failure to thrive
OMIM:613803	ORC1	4998	HP:0008551	Microtia
OMIM:613803	ORC1	4998	HP:0002750	Delayed skeletal maturation
OMIM:613803	ORC1	4998	HP:0000007	Autosomal recessive inheritance
OMIM:613803	ORC1	4998	HP:0008665	Clitoral hypertrophy
OMIM:613803	ORC1	4998	HP:0000774	Narrow chest
OMIM:613803	ORC4	5000	HP:0010306	Short thorax
OMIM:613803	ORC4	5000	HP:0003100	Slender long bone
OMIM:613803	ORC4	5000	HP:0011968	Feeding difficulties
OMIM:613803	ORC4	5000	HP:0000773	Short ribs
OMIM:613803	ORC4	5000	HP:0000325	Triangular face
OMIM:613803	ORC4	5000	HP:0001511	Intrauterine growth retardation
OMIM:613803	ORC4	5000	HP:0006532	Recurrent pneumonia
OMIM:613803	ORC4	5000	HP:0000028	Cryptorchidism
OMIM:613803	ORC4	5000	HP:0002094	Dyspnea
OMIM:613803	ORC4	5000	HP:0002812	Coxa vara
OMIM:613803	ORC4	5000	HP:0000252	Microcephaly
OMIM:613803	ORC4	5000	HP:0000046	Scrotal hypoplasia
OMIM:613803	ORC4	5000	HP:0000327	Hypoplasia of the maxilla
OMIM:613803	ORC4	5000	HP:0000160	Narrow mouth
OMIM:613803	ORC4	5000	HP:0000179	Thick lower lip vermilion
OMIM:613803	ORC4	5000	HP:0000308	Microretrognathia
OMIM:613803	ORC4	5000	HP:0002970	Genu varum
OMIM:613803	ORC4	5000	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:613803	ORC4	5000	HP:0001508	Failure to thrive
OMIM:613803	ORC4	5000	HP:0008551	Microtia
OMIM:613803	ORC4	5000	HP:0002750	Delayed skeletal maturation
OMIM:613803	ORC4	5000	HP:0000007	Autosomal recessive inheritance
OMIM:613803	ORC4	5000	HP:0008665	Clitoral hypertrophy
OMIM:613803	ORC4	5000	HP:0000774	Narrow chest
OMIM:613803	ORC6	23594	HP:0010306	Short thorax
OMIM:613803	ORC6	23594	HP:0003100	Slender long bone
OMIM:613803	ORC6	23594	HP:0011968	Feeding difficulties
OMIM:613803	ORC6	23594	HP:0000773	Short ribs
OMIM:613803	ORC6	23594	HP:0000325	Triangular face
OMIM:613803	ORC6	23594	HP:0001511	Intrauterine growth retardation
OMIM:613803	ORC6	23594	HP:0006532	Recurrent pneumonia
OMIM:613803	ORC6	23594	HP:0000028	Cryptorchidism
OMIM:613803	ORC6	23594	HP:0002094	Dyspnea
OMIM:613803	ORC6	23594	HP:0002812	Coxa vara
OMIM:613803	ORC6	23594	HP:0000252	Microcephaly
OMIM:613803	ORC6	23594	HP:0000046	Scrotal hypoplasia
OMIM:613803	ORC6	23594	HP:0000327	Hypoplasia of the maxilla
OMIM:613803	ORC6	23594	HP:0000160	Narrow mouth
OMIM:613803	ORC6	23594	HP:0000179	Thick lower lip vermilion
OMIM:613803	ORC6	23594	HP:0000308	Microretrognathia
OMIM:613803	ORC6	23594	HP:0002970	Genu varum
OMIM:613803	ORC6	23594	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:613803	ORC6	23594	HP:0001508	Failure to thrive
OMIM:613803	ORC6	23594	HP:0008551	Microtia
OMIM:613803	ORC6	23594	HP:0002750	Delayed skeletal maturation
OMIM:613803	ORC6	23594	HP:0000007	Autosomal recessive inheritance
OMIM:613803	ORC6	23594	HP:0008665	Clitoral hypertrophy
OMIM:613803	ORC6	23594	HP:0000774	Narrow chest
OMIM:613803	CDC6	990	HP:0010306	Short thorax
OMIM:613803	CDC6	990	HP:0003100	Slender long bone
OMIM:613803	CDC6	990	HP:0011968	Feeding difficulties
OMIM:613803	CDC6	990	HP:0000773	Short ribs
OMIM:613803	CDC6	990	HP:0000325	Triangular face
OMIM:613803	CDC6	990	HP:0001511	Intrauterine growth retardation
OMIM:613803	CDC6	990	HP:0006532	Recurrent pneumonia
OMIM:613803	CDC6	990	HP:0000028	Cryptorchidism
OMIM:613803	CDC6	990	HP:0002094	Dyspnea
OMIM:613803	CDC6	990	HP:0002812	Coxa vara
OMIM:613803	CDC6	990	HP:0000252	Microcephaly
OMIM:613803	CDC6	990	HP:0000046	Scrotal hypoplasia
OMIM:613803	CDC6	990	HP:0000327	Hypoplasia of the maxilla
OMIM:613803	CDC6	990	HP:0000160	Narrow mouth
OMIM:613803	CDC6	990	HP:0000179	Thick lower lip vermilion
OMIM:613803	CDC6	990	HP:0000308	Microretrognathia
OMIM:613803	CDC6	990	HP:0002970	Genu varum
OMIM:613803	CDC6	990	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:613803	CDC6	990	HP:0001508	Failure to thrive
OMIM:613803	CDC6	990	HP:0008551	Microtia
OMIM:613803	CDC6	990	HP:0002750	Delayed skeletal maturation
OMIM:613803	CDC6	990	HP:0000007	Autosomal recessive inheritance
OMIM:613803	CDC6	990	HP:0008665	Clitoral hypertrophy
OMIM:613803	CDC6	990	HP:0000774	Narrow chest
OMIM:615233	RLBP1	6017	HP:0000603	Central scotoma
OMIM:615233	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:615233	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:615233	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:615233	RLBP1	6017	HP:0000505	Visual impairment
OMIM:615233	RLBP1	6017	HP:0007663	Reduced visual acuity
OMIM:615233	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:615233	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:615233	RLBP1	6017	HP:0007787	Posterior subcapsular cataract
OMIM:615233	SPATA7	55812	HP:0000603	Central scotoma
OMIM:615233	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:615233	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:615233	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:615233	SPATA7	55812	HP:0000505	Visual impairment
OMIM:615233	SPATA7	55812	HP:0007663	Reduced visual acuity
OMIM:615233	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:615233	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:615233	SPATA7	55812	HP:0007787	Posterior subcapsular cataract
OMIM:615233	ARL6	84100	HP:0000603	Central scotoma
OMIM:615233	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615233	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:615233	ARL6	84100	HP:0000662	Nyctalopia
OMIM:615233	ARL6	84100	HP:0000505	Visual impairment
OMIM:615233	ARL6	84100	HP:0007663	Reduced visual acuity
OMIM:615233	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:615233	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:615233	ARL6	84100	HP:0007787	Posterior subcapsular cataract
OMIM:615233	CERKL	375298	HP:0000603	Central scotoma
OMIM:615233	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:615233	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:615233	CERKL	375298	HP:0000662	Nyctalopia
OMIM:615233	CERKL	375298	HP:0000505	Visual impairment
OMIM:615233	CERKL	375298	HP:0007663	Reduced visual acuity
OMIM:615233	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:615233	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:615233	CERKL	375298	HP:0007787	Posterior subcapsular cataract
OMIM:615233	PRPF31	26121	HP:0000603	Central scotoma
OMIM:615233	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:615233	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:615233	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:615233	PRPF31	26121	HP:0000505	Visual impairment
OMIM:615233	PRPF31	26121	HP:0007663	Reduced visual acuity
OMIM:615233	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:615233	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:615233	PRPF31	26121	HP:0007787	Posterior subcapsular cataract
OMIM:615233	TTC8	123016	HP:0000603	Central scotoma
OMIM:615233	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615233	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:615233	TTC8	123016	HP:0000662	Nyctalopia
OMIM:615233	TTC8	123016	HP:0000505	Visual impairment
OMIM:615233	TTC8	123016	HP:0007663	Reduced visual acuity
OMIM:615233	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:615233	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:615233	TTC8	123016	HP:0007787	Posterior subcapsular cataract
OMIM:615233	PROM1	8842	HP:0000603	Central scotoma
OMIM:615233	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:615233	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:615233	PROM1	8842	HP:0000662	Nyctalopia
OMIM:615233	PROM1	8842	HP:0000505	Visual impairment
OMIM:615233	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:615233	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:615233	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:615233	PROM1	8842	HP:0007787	Posterior subcapsular cataract
OMIM:615233	LRAT	9227	HP:0000603	Central scotoma
OMIM:615233	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:615233	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:615233	LRAT	9227	HP:0000662	Nyctalopia
OMIM:615233	LRAT	9227	HP:0000505	Visual impairment
OMIM:615233	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:615233	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:615233	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:615233	LRAT	9227	HP:0007787	Posterior subcapsular cataract
OMIM:615233	IFT140	9742	HP:0000603	Central scotoma
OMIM:615233	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:615233	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:615233	IFT140	9742	HP:0000662	Nyctalopia
OMIM:615233	IFT140	9742	HP:0000505	Visual impairment
OMIM:615233	IFT140	9742	HP:0007663	Reduced visual acuity
OMIM:615233	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:615233	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:615233	IFT140	9742	HP:0007787	Posterior subcapsular cataract
OMIM:615233	BEST1	7439	HP:0000603	Central scotoma
OMIM:615233	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:615233	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:615233	BEST1	7439	HP:0000662	Nyctalopia
OMIM:615233	BEST1	7439	HP:0000505	Visual impairment
OMIM:615233	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:615233	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:615233	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:615233	BEST1	7439	HP:0007787	Posterior subcapsular cataract
OMIM:615233	NEK2	4751	HP:0000603	Central scotoma
OMIM:615233	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:615233	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:615233	NEK2	4751	HP:0000662	Nyctalopia
OMIM:615233	NEK2	4751	HP:0000505	Visual impairment
OMIM:615233	NEK2	4751	HP:0007663	Reduced visual acuity
OMIM:615233	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:615233	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:615233	NEK2	4751	HP:0007787	Posterior subcapsular cataract
OMIM:615233	ARL2BP	23568	HP:0000603	Central scotoma
OMIM:615233	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:615233	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:615233	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:615233	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:615233	ARL2BP	23568	HP:0007663	Reduced visual acuity
OMIM:615233	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:615233	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:615233	ARL2BP	23568	HP:0007787	Posterior subcapsular cataract
OMIM:615233	NR2E3	10002	HP:0000603	Central scotoma
OMIM:615233	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:615233	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:615233	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:615233	NR2E3	10002	HP:0000505	Visual impairment
OMIM:615233	NR2E3	10002	HP:0007663	Reduced visual acuity
OMIM:615233	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:615233	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:615233	NR2E3	10002	HP:0007787	Posterior subcapsular cataract
OMIM:615233	EYS	346007	HP:0000603	Central scotoma
OMIM:615233	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:615233	EYS	346007	HP:0000543	Optic disc pallor
OMIM:615233	EYS	346007	HP:0000662	Nyctalopia
OMIM:615233	EYS	346007	HP:0000505	Visual impairment
OMIM:615233	EYS	346007	HP:0007663	Reduced visual acuity
OMIM:615233	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:615233	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:615233	EYS	346007	HP:0007787	Posterior subcapsular cataract
OMIM:615233	MAK	4117	HP:0000603	Central scotoma
OMIM:615233	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:615233	MAK	4117	HP:0000543	Optic disc pallor
OMIM:615233	MAK	4117	HP:0000662	Nyctalopia
OMIM:615233	MAK	4117	HP:0000505	Visual impairment
OMIM:615233	MAK	4117	HP:0007663	Reduced visual acuity
OMIM:615233	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:615233	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:615233	MAK	4117	HP:0007787	Posterior subcapsular cataract
OMIM:615233	SAG	6295	HP:0000603	Central scotoma
OMIM:615233	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:615233	SAG	6295	HP:0000543	Optic disc pallor
OMIM:615233	SAG	6295	HP:0000662	Nyctalopia
OMIM:615233	SAG	6295	HP:0000505	Visual impairment
OMIM:615233	SAG	6295	HP:0007663	Reduced visual acuity
OMIM:615233	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:615233	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:615233	SAG	6295	HP:0007787	Posterior subcapsular cataract
OMIM:615233	ABCA4	24	HP:0000603	Central scotoma
OMIM:615233	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:615233	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:615233	ABCA4	24	HP:0000662	Nyctalopia
OMIM:615233	ABCA4	24	HP:0000505	Visual impairment
OMIM:615233	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:615233	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:615233	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:615233	ABCA4	24	HP:0007787	Posterior subcapsular cataract
OMIM:615233	PDE6A	5145	HP:0000603	Central scotoma
OMIM:615233	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:615233	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:615233	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:615233	PDE6A	5145	HP:0000505	Visual impairment
OMIM:615233	PDE6A	5145	HP:0007663	Reduced visual acuity
OMIM:615233	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:615233	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:615233	PDE6A	5145	HP:0007787	Posterior subcapsular cataract
OMIM:615233	PDE6G	5148	HP:0000603	Central scotoma
OMIM:615233	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:615233	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:615233	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:615233	PDE6G	5148	HP:0000505	Visual impairment
OMIM:615233	PDE6G	5148	HP:0007663	Reduced visual acuity
OMIM:615233	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:615233	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:615233	PDE6G	5148	HP:0007787	Posterior subcapsular cataract
OMIM:615233	IMPDH1	3614	HP:0000603	Central scotoma
OMIM:615233	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:615233	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:615233	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:615233	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:615233	IMPDH1	3614	HP:0007663	Reduced visual acuity
OMIM:615233	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:615233	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:615233	IMPDH1	3614	HP:0007787	Posterior subcapsular cataract
OMIM:615233	OFD1	8481	HP:0000603	Central scotoma
OMIM:615233	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:615233	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:615233	OFD1	8481	HP:0000662	Nyctalopia
OMIM:615233	OFD1	8481	HP:0000505	Visual impairment
OMIM:615233	OFD1	8481	HP:0007663	Reduced visual acuity
OMIM:615233	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:615233	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615233	OFD1	8481	HP:0007787	Posterior subcapsular cataract
OMIM:615233	GUCA1B	2979	HP:0000603	Central scotoma
OMIM:615233	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:615233	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:615233	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:615233	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:615233	GUCA1B	2979	HP:0007663	Reduced visual acuity
OMIM:615233	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:615233	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:615233	GUCA1B	2979	HP:0007787	Posterior subcapsular cataract
OMIM:615233	NRL	4901	HP:0000603	Central scotoma
OMIM:615233	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:615233	NRL	4901	HP:0000543	Optic disc pallor
OMIM:615233	NRL	4901	HP:0000662	Nyctalopia
OMIM:615233	NRL	4901	HP:0000505	Visual impairment
OMIM:615233	NRL	4901	HP:0007663	Reduced visual acuity
OMIM:615233	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:615233	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:615233	NRL	4901	HP:0007787	Posterior subcapsular cataract
OMIM:615233	PDE6B	5158	HP:0000603	Central scotoma
OMIM:615233	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:615233	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:615233	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:615233	PDE6B	5158	HP:0000505	Visual impairment
OMIM:615233	PDE6B	5158	HP:0007663	Reduced visual acuity
OMIM:615233	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:615233	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:615233	PDE6B	5158	HP:0007787	Posterior subcapsular cataract
OMIM:615233	KLHL7	55975	HP:0000603	Central scotoma
OMIM:615233	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:615233	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:615233	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:615233	KLHL7	55975	HP:0000505	Visual impairment
OMIM:615233	KLHL7	55975	HP:0007663	Reduced visual acuity
OMIM:615233	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:615233	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:615233	KLHL7	55975	HP:0007787	Posterior subcapsular cataract
OMIM:615233	PRPF4	9128	HP:0000603	Central scotoma
OMIM:615233	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:615233	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:615233	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:615233	PRPF4	9128	HP:0000505	Visual impairment
OMIM:615233	PRPF4	9128	HP:0007663	Reduced visual acuity
OMIM:615233	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:615233	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:615233	PRPF4	9128	HP:0007787	Posterior subcapsular cataract
OMIM:615233	PRPF3	9129	HP:0000603	Central scotoma
OMIM:615233	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:615233	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:615233	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:615233	PRPF3	9129	HP:0000505	Visual impairment
OMIM:615233	PRPF3	9129	HP:0007663	Reduced visual acuity
OMIM:615233	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:615233	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:615233	PRPF3	9129	HP:0007787	Posterior subcapsular cataract
OMIM:615233	FAM161A	84140	HP:0000603	Central scotoma
OMIM:615233	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:615233	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:615233	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:615233	FAM161A	84140	HP:0000505	Visual impairment
OMIM:615233	FAM161A	84140	HP:0007663	Reduced visual acuity
OMIM:615233	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:615233	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:615233	FAM161A	84140	HP:0007787	Posterior subcapsular cataract
OMIM:615233	IFT172	26160	HP:0000603	Central scotoma
OMIM:615233	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615233	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:615233	IFT172	26160	HP:0000662	Nyctalopia
OMIM:615233	IFT172	26160	HP:0000505	Visual impairment
OMIM:615233	IFT172	26160	HP:0007663	Reduced visual acuity
OMIM:615233	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:615233	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:615233	IFT172	26160	HP:0007787	Posterior subcapsular cataract
OMIM:615233	KIZ	55857	HP:0000603	Central scotoma
OMIM:615233	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:615233	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:615233	KIZ	55857	HP:0000662	Nyctalopia
OMIM:615233	KIZ	55857	HP:0000505	Visual impairment
OMIM:615233	KIZ	55857	HP:0007663	Reduced visual acuity
OMIM:615233	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:615233	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:615233	KIZ	55857	HP:0007787	Posterior subcapsular cataract
OMIM:615233	CDHR1	92211	HP:0000603	Central scotoma
OMIM:615233	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:615233	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:615233	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:615233	CDHR1	92211	HP:0000505	Visual impairment
OMIM:615233	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:615233	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:615233	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:615233	CDHR1	92211	HP:0007787	Posterior subcapsular cataract
OMIM:615233	ZNF408	79797	HP:0000603	Central scotoma
OMIM:615233	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:615233	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:615233	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:615233	ZNF408	79797	HP:0000505	Visual impairment
OMIM:615233	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:615233	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:615233	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:615233	ZNF408	79797	HP:0007787	Posterior subcapsular cataract
OMIM:615233	RBP3	5949	HP:0000603	Central scotoma
OMIM:615233	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:615233	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:615233	RBP3	5949	HP:0000662	Nyctalopia
OMIM:615233	RBP3	5949	HP:0000505	Visual impairment
OMIM:615233	RBP3	5949	HP:0007663	Reduced visual acuity
OMIM:615233	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:615233	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:615233	RBP3	5949	HP:0007787	Posterior subcapsular cataract
OMIM:615233	HGSNAT	138050	HP:0000603	Central scotoma
OMIM:615233	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:615233	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:615233	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:615233	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:615233	HGSNAT	138050	HP:0007663	Reduced visual acuity
OMIM:615233	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:615233	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:615233	HGSNAT	138050	HP:0007787	Posterior subcapsular cataract
OMIM:615233	FSCN2	25794	HP:0000603	Central scotoma
OMIM:615233	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:615233	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:615233	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:615233	FSCN2	25794	HP:0000505	Visual impairment
OMIM:615233	FSCN2	25794	HP:0007663	Reduced visual acuity
OMIM:615233	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:615233	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:615233	FSCN2	25794	HP:0007787	Posterior subcapsular cataract
OMIM:615233	PRCD	768206	HP:0000603	Central scotoma
OMIM:615233	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:615233	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:615233	PRCD	768206	HP:0000662	Nyctalopia
OMIM:615233	PRCD	768206	HP:0000505	Visual impairment
OMIM:615233	PRCD	768206	HP:0007663	Reduced visual acuity
OMIM:615233	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:615233	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:615233	PRCD	768206	HP:0007787	Posterior subcapsular cataract
OMIM:615233	BBS2	583	HP:0000603	Central scotoma
OMIM:615233	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615233	BBS2	583	HP:0000543	Optic disc pallor
OMIM:615233	BBS2	583	HP:0000662	Nyctalopia
OMIM:615233	BBS2	583	HP:0000505	Visual impairment
OMIM:615233	BBS2	583	HP:0007663	Reduced visual acuity
OMIM:615233	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:615233	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:615233	BBS2	583	HP:0007787	Posterior subcapsular cataract
OMIM:615233	RDH12	145226	HP:0000603	Central scotoma
OMIM:615233	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:615233	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:615233	RDH12	145226	HP:0000662	Nyctalopia
OMIM:615233	RDH12	145226	HP:0000505	Visual impairment
OMIM:615233	RDH12	145226	HP:0007663	Reduced visual acuity
OMIM:615233	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:615233	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:615233	RDH12	145226	HP:0007787	Posterior subcapsular cataract
OMIM:615233	PRPH2	5961	HP:0000603	Central scotoma
OMIM:615233	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:615233	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:615233	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:615233	PRPH2	5961	HP:0000505	Visual impairment
OMIM:615233	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:615233	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:615233	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:615233	PRPH2	5961	HP:0007787	Posterior subcapsular cataract
OMIM:615233	DHDDS	79947	HP:0000603	Central scotoma
OMIM:615233	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:615233	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:615233	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:615233	DHDDS	79947	HP:0000505	Visual impairment
OMIM:615233	DHDDS	79947	HP:0007663	Reduced visual acuity
OMIM:615233	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:615233	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:615233	DHDDS	79947	HP:0007787	Posterior subcapsular cataract
OMIM:615233	ROM1	6094	HP:0000603	Central scotoma
OMIM:615233	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:615233	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:615233	ROM1	6094	HP:0000662	Nyctalopia
OMIM:615233	ROM1	6094	HP:0000505	Visual impairment
OMIM:615233	ROM1	6094	HP:0007663	Reduced visual acuity
OMIM:615233	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:615233	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:615233	ROM1	6094	HP:0007787	Posterior subcapsular cataract
OMIM:615233	C2ORF71	388939	HP:0000603	Central scotoma
OMIM:615233	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:615233	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:615233	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:615233	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:615233	C2ORF71	388939	HP:0007663	Reduced visual acuity
OMIM:615233	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:615233	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:615233	C2ORF71	388939	HP:0007787	Posterior subcapsular cataract
OMIM:615233	RP9	6100	HP:0000603	Central scotoma
OMIM:615233	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:615233	RP9	6100	HP:0000543	Optic disc pallor
OMIM:615233	RP9	6100	HP:0000662	Nyctalopia
OMIM:615233	RP9	6100	HP:0000505	Visual impairment
OMIM:615233	RP9	6100	HP:0007663	Reduced visual acuity
OMIM:615233	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:615233	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:615233	RP9	6100	HP:0007787	Posterior subcapsular cataract
OMIM:615233	PRPF6	24148	HP:0000603	Central scotoma
OMIM:615233	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:615233	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:615233	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:615233	PRPF6	24148	HP:0000505	Visual impairment
OMIM:615233	PRPF6	24148	HP:0007663	Reduced visual acuity
OMIM:615233	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:615233	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:615233	PRPF6	24148	HP:0007787	Posterior subcapsular cataract
OMIM:615233	RP1	6101	HP:0000603	Central scotoma
OMIM:615233	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:615233	RP1	6101	HP:0000543	Optic disc pallor
OMIM:615233	RP1	6101	HP:0000662	Nyctalopia
OMIM:615233	RP1	6101	HP:0000505	Visual impairment
OMIM:615233	RP1	6101	HP:0007663	Reduced visual acuity
OMIM:615233	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:615233	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:615233	RP1	6101	HP:0007787	Posterior subcapsular cataract
OMIM:615233	RP2	6102	HP:0000603	Central scotoma
OMIM:615233	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:615233	RP2	6102	HP:0000543	Optic disc pallor
OMIM:615233	RP2	6102	HP:0000662	Nyctalopia
OMIM:615233	RP2	6102	HP:0000505	Visual impairment
OMIM:615233	RP2	6102	HP:0007663	Reduced visual acuity
OMIM:615233	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:615233	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:615233	RP2	6102	HP:0007787	Posterior subcapsular cataract
OMIM:615233	RPGR	6103	HP:0000603	Central scotoma
OMIM:615233	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:615233	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:615233	RPGR	6103	HP:0000662	Nyctalopia
OMIM:615233	RPGR	6103	HP:0000505	Visual impairment
OMIM:615233	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:615233	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:615233	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615233	RPGR	6103	HP:0007787	Posterior subcapsular cataract
OMIM:615233	SEMA4A	64218	HP:0000603	Central scotoma
OMIM:615233	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:615233	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:615233	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:615233	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:615233	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:615233	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:615233	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:615233	SEMA4A	64218	HP:0007787	Posterior subcapsular cataract
OMIM:615233	C8ORF37	157657	HP:0000603	Central scotoma
OMIM:615233	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:615233	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:615233	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:615233	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:615233	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:615233	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:615233	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:615233	C8ORF37	157657	HP:0007787	Posterior subcapsular cataract
OMIM:615233	IDH3B	3420	HP:0000603	Central scotoma
OMIM:615233	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:615233	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:615233	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:615233	IDH3B	3420	HP:0000505	Visual impairment
OMIM:615233	IDH3B	3420	HP:0007663	Reduced visual acuity
OMIM:615233	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:615233	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:615233	IDH3B	3420	HP:0007787	Posterior subcapsular cataract
OMIM:615233	MERTK	10461	HP:0000603	Central scotoma
OMIM:615233	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:615233	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:615233	MERTK	10461	HP:0000662	Nyctalopia
OMIM:615233	MERTK	10461	HP:0000505	Visual impairment
OMIM:615233	MERTK	10461	HP:0007663	Reduced visual acuity
OMIM:615233	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:615233	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:615233	MERTK	10461	HP:0007787	Posterior subcapsular cataract
OMIM:615233	PRPF8	10594	HP:0000603	Central scotoma
OMIM:615233	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:615233	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:615233	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:615233	PRPF8	10594	HP:0000505	Visual impairment
OMIM:615233	PRPF8	10594	HP:0007663	Reduced visual acuity
OMIM:615233	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:615233	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:615233	PRPF8	10594	HP:0007787	Posterior subcapsular cataract
OMIM:615233	TOPORS	10210	HP:0000603	Central scotoma
OMIM:615233	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:615233	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:615233	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:615233	TOPORS	10210	HP:0000505	Visual impairment
OMIM:615233	TOPORS	10210	HP:0007663	Reduced visual acuity
OMIM:615233	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:615233	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:615233	TOPORS	10210	HP:0007787	Posterior subcapsular cataract
OMIM:615233	USH2A	7399	HP:0000603	Central scotoma
OMIM:615233	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:615233	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:615233	USH2A	7399	HP:0000662	Nyctalopia
OMIM:615233	USH2A	7399	HP:0000505	Visual impairment
OMIM:615233	USH2A	7399	HP:0007663	Reduced visual acuity
OMIM:615233	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:615233	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:615233	USH2A	7399	HP:0007787	Posterior subcapsular cataract
OMIM:615233	RPE65	6121	HP:0000603	Central scotoma
OMIM:615233	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:615233	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:615233	RPE65	6121	HP:0000662	Nyctalopia
OMIM:615233	RPE65	6121	HP:0000505	Visual impairment
OMIM:615233	RPE65	6121	HP:0007663	Reduced visual acuity
OMIM:615233	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:615233	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:615233	RPE65	6121	HP:0007787	Posterior subcapsular cataract
OMIM:615233	CLRN1	7401	HP:0000603	Central scotoma
OMIM:615233	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:615233	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:615233	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:615233	CLRN1	7401	HP:0000505	Visual impairment
OMIM:615233	CLRN1	7401	HP:0007663	Reduced visual acuity
OMIM:615233	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:615233	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:615233	CLRN1	7401	HP:0007787	Posterior subcapsular cataract
OMIM:615233	CNGB1	1258	HP:0000603	Central scotoma
OMIM:615233	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:615233	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:615233	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:615233	CNGB1	1258	HP:0000505	Visual impairment
OMIM:615233	CNGB1	1258	HP:0007663	Reduced visual acuity
OMIM:615233	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:615233	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:615233	CNGB1	1258	HP:0007787	Posterior subcapsular cataract
OMIM:615233	RGR	5995	HP:0000603	Central scotoma
OMIM:615233	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:615233	RGR	5995	HP:0000543	Optic disc pallor
OMIM:615233	RGR	5995	HP:0000662	Nyctalopia
OMIM:615233	RGR	5995	HP:0000505	Visual impairment
OMIM:615233	RGR	5995	HP:0007663	Reduced visual acuity
OMIM:615233	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:615233	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:615233	RGR	5995	HP:0007787	Posterior subcapsular cataract
OMIM:615233	CNGA1	1259	HP:0000603	Central scotoma
OMIM:615233	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:615233	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:615233	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:615233	CNGA1	1259	HP:0000505	Visual impairment
OMIM:615233	CNGA1	1259	HP:0007663	Reduced visual acuity
OMIM:615233	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:615233	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:615233	CNGA1	1259	HP:0007787	Posterior subcapsular cataract
OMIM:615233	TUB	7275	HP:0000603	Central scotoma
OMIM:615233	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:615233	TUB	7275	HP:0000543	Optic disc pallor
OMIM:615233	TUB	7275	HP:0000662	Nyctalopia
OMIM:615233	TUB	7275	HP:0000505	Visual impairment
OMIM:615233	TUB	7275	HP:0007663	Reduced visual acuity
OMIM:615233	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:615233	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:615233	TUB	7275	HP:0007787	Posterior subcapsular cataract
OMIM:615233	SNRNP200	23020	HP:0000603	Central scotoma
OMIM:615233	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:615233	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:615233	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:615233	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:615233	SNRNP200	23020	HP:0007663	Reduced visual acuity
OMIM:615233	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:615233	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:615233	SNRNP200	23020	HP:0007787	Posterior subcapsular cataract
OMIM:615233	SLC7A14	57709	HP:0000603	Central scotoma
OMIM:615233	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:615233	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:615233	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:615233	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:615233	SLC7A14	57709	HP:0007663	Reduced visual acuity
OMIM:615233	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:615233	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:615233	SLC7A14	57709	HP:0007787	Posterior subcapsular cataract
OMIM:615233	TULP1	7287	HP:0000603	Central scotoma
OMIM:615233	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:615233	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:615233	TULP1	7287	HP:0000662	Nyctalopia
OMIM:615233	TULP1	7287	HP:0000505	Visual impairment
OMIM:615233	TULP1	7287	HP:0007663	Reduced visual acuity
OMIM:615233	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:615233	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:615233	TULP1	7287	HP:0007787	Posterior subcapsular cataract
OMIM:615233	RHO	6010	HP:0000603	Central scotoma
OMIM:615233	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:615233	RHO	6010	HP:0000543	Optic disc pallor
OMIM:615233	RHO	6010	HP:0000662	Nyctalopia
OMIM:615233	RHO	6010	HP:0000505	Visual impairment
OMIM:615233	RHO	6010	HP:0007663	Reduced visual acuity
OMIM:615233	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:615233	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:615233	RHO	6010	HP:0007787	Posterior subcapsular cataract
OMIM:615233	CA4	762	HP:0000603	Central scotoma
OMIM:615233	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:615233	CA4	762	HP:0000543	Optic disc pallor
OMIM:615233	CA4	762	HP:0000662	Nyctalopia
OMIM:615233	CA4	762	HP:0000505	Visual impairment
OMIM:615233	CA4	762	HP:0007663	Reduced visual acuity
OMIM:615233	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:615233	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:615233	CA4	762	HP:0007787	Posterior subcapsular cataract
OMIM:615233	CRB1	23418	HP:0000603	Central scotoma
OMIM:615233	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:615233	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:615233	CRB1	23418	HP:0000662	Nyctalopia
OMIM:615233	CRB1	23418	HP:0000505	Visual impairment
OMIM:615233	CRB1	23418	HP:0007663	Reduced visual acuity
OMIM:615233	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:615233	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:615233	CRB1	23418	HP:0007787	Posterior subcapsular cataract
OMIM:615233	IMPG2	50939	HP:0000603	Central scotoma
OMIM:615233	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:615233	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:615233	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:615233	IMPG2	50939	HP:0000505	Visual impairment
OMIM:615233	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:615233	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:615233	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:615233	IMPG2	50939	HP:0007787	Posterior subcapsular cataract
OMIM:615233	ZNF513	130557	HP:0000603	Central scotoma
OMIM:615233	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:615233	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:615233	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:615233	ZNF513	130557	HP:0000505	Visual impairment
OMIM:615233	ZNF513	130557	HP:0007663	Reduced visual acuity
OMIM:615233	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:615233	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:615233	ZNF513	130557	HP:0007787	Posterior subcapsular cataract
OMIM:615233	CRX	1406	HP:0000603	Central scotoma
OMIM:615233	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:615233	CRX	1406	HP:0000543	Optic disc pallor
OMIM:615233	CRX	1406	HP:0000662	Nyctalopia
OMIM:615233	CRX	1406	HP:0000505	Visual impairment
OMIM:615233	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:615233	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:615233	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:615233	CRX	1406	HP:0007787	Posterior subcapsular cataract
OMIM:233910	GCH1	2643	HP:0001263	Global developmental delay
OMIM:233910	GCH1	2643	HP:0002015	Dysphagia
OMIM:233910	GCH1	2643	HP:0006829	Severe muscular hypotonia
OMIM:233910	GCH1	2643	HP:0000007	Autosomal recessive inheritance
OMIM:233910	GCH1	2643	HP:0002063	Rigidity
OMIM:233910	GCH1	2643	HP:0001250	Seizures
OMIM:233910	GCH1	2643	HP:0000737	Irritability
OMIM:233910	GCH1	2643	HP:0001266	Choreoathetosis
OMIM:233910	GCH1	2643	HP:0006887	Intellectual disability, progressive
OMIM:233910	GCH1	2643	HP:0003593	Infantile onset
OMIM:233910	GCH1	2643	HP:0003781	Excessive salivation
OMIM:233910	GCH1	2643	HP:0002509	Limb hypertonia
OMIM:233910	GCH1	2643	HP:0000496	Abnormality of eye movement
OMIM:233910	GCH1	2643	HP:0001337	Tremor
OMIM:233910	GCH1	2643	HP:0001332	Dystonia
OMIM:233910	GCH1	2643	HP:0001254	Lethargy
OMIM:233910	GCH1	2643	HP:0002344	Progressive neurologic deterioration
OMIM:233910	GCH1	2643	HP:0003828	Variable expressivity
OMIM:133190	ELOVL4	6785	HP:0001025	Urticaria
OMIM:133190	ELOVL4	6785	HP:0001034	Hypermelanotic macule
OMIM:133190	ELOVL4	6785	HP:0000486	Strabismus
OMIM:133190	ELOVL4	6785	HP:0003011	Abnormality of the musculature
OMIM:133190	ELOVL4	6785	HP:0000639	Nystagmus
OMIM:133190	ELOVL4	6785	HP:0002075	Dysdiadochokinesis
OMIM:133190	ELOVL4	6785	HP:0002311	Incoordination
OMIM:133190	ELOVL4	6785	HP:0001272	Cerebellar atrophy
OMIM:133190	ELOVL4	6785	HP:0001288	Gait disturbance
OMIM:133190	ELOVL4	6785	HP:0001260	Dysarthria
OMIM:133190	ELOVL4	6785	HP:0000006	Autosomal dominant inheritance
OMIM:133190	ELOVL4	6785	HP:0002066	Gait ataxia
OMIM:133190	ELOVL4	6785	HP:0000962	Hyperkeratosis
OMIM:133190	ELOVL4	6785	HP:0002380	Fasciculations
OMIM:133190	ELOVL4	6785	HP:0000958	Dry skin
OMIM:133190	ELOVL4	6785	HP:0000966	Hypohidrosis
OMIM:133190	ELOVL4	6785	HP:0002167	Neurological speech impairment
OMIM:133190	ELOVL4	6785	HP:0001315	Reduced tendon reflexes
OMIM:133190	ELOVL4	6785	HP:0000324	Facial asymmetry
OMIM:133190	ELOVL4	6785	HP:0001265	Hyporeflexia
OMIM:614458	TPK1	27010	HP:0002321	Vertigo
OMIM:614458	TPK1	27010	HP:0001250	Seizures
OMIM:614458	TPK1	27010	HP:0001712	Left ventricular hypertrophy
OMIM:614458	TPK1	27010	HP:0003812	Phenotypic variability
OMIM:614458	TPK1	27010	HP:0003128	Lactic acidosis
OMIM:614458	TPK1	27010	HP:0002371	Loss of speech
OMIM:614458	TPK1	27010	HP:0001251	Ataxia
OMIM:614458	TPK1	27010	HP:0001263	Global developmental delay
OMIM:614458	TPK1	27010	HP:0001332	Dystonia
OMIM:614458	TPK1	27010	HP:0000007	Autosomal recessive inheritance
OMIM:614458	TPK1	27010	HP:0001252	Muscular hypotonia
OMIM:614458	TPK1	27010	HP:0001257	Spasticity
OMIM:614723	APRT	353	HP:0000007	Autosomal recessive inheritance
OMIM:614723	APRT	353	HP:0000083	Renal insufficiency
OMIM:614723	APRT	353	HP:0000790	Hematuria
OMIM:614723	APRT	353	HP:0000787	Nephrolithiasis
OMIM:614723	APRT	353	HP:0000112	Nephropathy
OMIM:614723	APRT	353	HP:0000010	Recurrent urinary tract infections
OMIM:615294	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:615294	DNAAF2	55172	HP:0100750	Atelectasis
OMIM:615294	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:615294	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:615294	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:615294	CCNO	10309	HP:0000246	Sinusitis
OMIM:615294	CCNO	10309	HP:0100750	Atelectasis
OMIM:615294	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:615294	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:615294	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:615294	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:615294	DNAAF5	54919	HP:0100750	Atelectasis
OMIM:615294	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:615294	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:615294	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:615294	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:615294	DNAAF3	352909	HP:0100750	Atelectasis
OMIM:615294	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:615294	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:615294	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:615294	DNAI1	27019	HP:0000246	Sinusitis
OMIM:615294	DNAI1	27019	HP:0100750	Atelectasis
OMIM:615294	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:615294	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:615294	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:615294	DRC1	92749	HP:0000246	Sinusitis
OMIM:615294	DRC1	92749	HP:0100750	Atelectasis
OMIM:615294	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:615294	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:615294	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:615294	SPAG1	6674	HP:0000246	Sinusitis
OMIM:615294	SPAG1	6674	HP:0100750	Atelectasis
OMIM:615294	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:615294	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:615294	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:615294	RSPH3	83861	HP:0000246	Sinusitis
OMIM:615294	RSPH3	83861	HP:0100750	Atelectasis
OMIM:615294	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:615294	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:615294	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:615294	RPGR	6103	HP:0000246	Sinusitis
OMIM:615294	RPGR	6103	HP:0100750	Atelectasis
OMIM:615294	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615294	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:615294	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:615294	LRRC6	23639	HP:0000246	Sinusitis
OMIM:615294	LRRC6	23639	HP:0100750	Atelectasis
OMIM:615294	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:615294	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:615294	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:615294	DNAL1	83544	HP:0000246	Sinusitis
OMIM:615294	DNAL1	83544	HP:0100750	Atelectasis
OMIM:615294	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:615294	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:615294	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:615294	ARMC4	55130	HP:0000246	Sinusitis
OMIM:615294	ARMC4	55130	HP:0100750	Atelectasis
OMIM:615294	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:615294	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:615294	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:615294	CCDC103	388389	HP:0000246	Sinusitis
OMIM:615294	CCDC103	388389	HP:0100750	Atelectasis
OMIM:615294	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:615294	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:615294	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:615294	OFD1	8481	HP:0000246	Sinusitis
OMIM:615294	OFD1	8481	HP:0100750	Atelectasis
OMIM:615294	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615294	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:615294	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:615294	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:615294	DNAAF1	123872	HP:0100750	Atelectasis
OMIM:615294	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:615294	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:615294	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:615294	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:615294	RSPH4A	345895	HP:0100750	Atelectasis
OMIM:615294	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:615294	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:615294	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:615294	RSPH1	89765	HP:0000246	Sinusitis
OMIM:615294	RSPH1	89765	HP:0100750	Atelectasis
OMIM:615294	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:615294	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:615294	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:615294	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:615294	ZMYND10	51364	HP:0100750	Atelectasis
OMIM:615294	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:615294	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:615294	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:615294	DNAH5	1767	HP:0000246	Sinusitis
OMIM:615294	DNAH5	1767	HP:0100750	Atelectasis
OMIM:615294	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:615294	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:615294	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:615294	CCDC65	85478	HP:0000246	Sinusitis
OMIM:615294	CCDC65	85478	HP:0100750	Atelectasis
OMIM:615294	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:615294	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:615294	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:615294	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:615294	C21ORF59	56683	HP:0100750	Atelectasis
OMIM:615294	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:615294	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:615294	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:615294	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:615294	DYX1C1	161582	HP:0100750	Atelectasis
OMIM:615294	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:615294	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:615294	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:615294	CCDC151	115948	HP:0000246	Sinusitis
OMIM:615294	CCDC151	115948	HP:0100750	Atelectasis
OMIM:615294	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:615294	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:615294	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:615294	RSPH9	221421	HP:0000246	Sinusitis
OMIM:615294	RSPH9	221421	HP:0100750	Atelectasis
OMIM:615294	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:615294	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:615294	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:615294	CCDC39	339829	HP:0000246	Sinusitis
OMIM:615294	CCDC39	339829	HP:0100750	Atelectasis
OMIM:615294	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:615294	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:615294	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:615294	HYDIN	54768	HP:0000246	Sinusitis
OMIM:615294	HYDIN	54768	HP:0100750	Atelectasis
OMIM:615294	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:615294	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:615294	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:615294	CCDC114	93233	HP:0000246	Sinusitis
OMIM:615294	CCDC114	93233	HP:0100750	Atelectasis
OMIM:615294	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:615294	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:615294	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:615294	NME8	51314	HP:0000246	Sinusitis
OMIM:615294	NME8	51314	HP:0100750	Atelectasis
OMIM:615294	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:615294	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:615294	NME8	51314	HP:0002110	Bronchiectasis
OMIM:615294	CCDC40	55036	HP:0000246	Sinusitis
OMIM:615294	CCDC40	55036	HP:0100750	Atelectasis
OMIM:615294	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:615294	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:615294	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:615294	DNAH11	8701	HP:0000246	Sinusitis
OMIM:615294	DNAH11	8701	HP:0100750	Atelectasis
OMIM:615294	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:615294	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:615294	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:615294	DNAI2	64446	HP:0000246	Sinusitis
OMIM:615294	DNAI2	64446	HP:0100750	Atelectasis
OMIM:615294	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:615294	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:615294	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:615294	GAS8	2622	HP:0000246	Sinusitis
OMIM:615294	GAS8	2622	HP:0100750	Atelectasis
OMIM:615294	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:615294	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:615294	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:613091	TTC21B	79809	HP:0002980	Femoral bowing
OMIM:613091	TTC21B	79809	HP:0100259	Postaxial polydactyly
OMIM:613091	TTC21B	79809	HP:0005257	Thoracic hypoplasia
OMIM:613091	TTC21B	79809	HP:0000110	Renal dysplasia
OMIM:613091	TTC21B	79809	HP:0000773	Short ribs
OMIM:613091	TTC21B	79809	HP:0002350	Cerebellar cyst
OMIM:613091	TTC21B	79809	HP:0100258	Preaxial polydactyly
OMIM:613091	TTC21B	79809	HP:0000175	Cleft palate
OMIM:613091	TTC21B	79809	HP:0000062	Ambiguous genitalia
OMIM:613091	TTC21B	79809	HP:0002650	Scoliosis
OMIM:613091	TTC21B	79809	HP:0000054	Micropenis
OMIM:613091	TTC21B	79809	HP:0001156	Brachydactyly syndrome
OMIM:613091	TTC21B	79809	HP:0003038	Fibular hypoplasia
OMIM:613091	TTC21B	79809	HP:0003022	Hypoplasia of the ulna
OMIM:613091	TTC21B	79809	HP:0001274	Agenesis of corpus callosum
OMIM:613091	TTC21B	79809	HP:0010984	Digenic inheritance
OMIM:613091	TTC21B	79809	HP:0010579	Cone-shaped epiphysis
OMIM:613091	TTC21B	79809	HP:0003016	Metaphyseal widening
OMIM:613091	TTC21B	79809	HP:0001762	Talipes equinovarus
OMIM:613091	TTC21B	79809	HP:0002566	Intestinal malrotation
OMIM:613091	TTC21B	79809	HP:0002023	Anal atresia
OMIM:613091	TTC21B	79809	HP:0004322	Short stature
OMIM:613091	TTC21B	79809	HP:0000007	Autosomal recessive inheritance
OMIM:613091	TTC21B	79809	HP:0000204	Cleft upper lip
OMIM:613091	TTC21B	79809	HP:0000113	Polycystic kidney dysplasia
OMIM:613091	WDR19	57728	HP:0002980	Femoral bowing
OMIM:613091	WDR19	57728	HP:0100259	Postaxial polydactyly
OMIM:613091	WDR19	57728	HP:0005257	Thoracic hypoplasia
OMIM:613091	WDR19	57728	HP:0000110	Renal dysplasia
OMIM:613091	WDR19	57728	HP:0000773	Short ribs
OMIM:613091	WDR19	57728	HP:0002350	Cerebellar cyst
OMIM:613091	WDR19	57728	HP:0100258	Preaxial polydactyly
OMIM:613091	WDR19	57728	HP:0000175	Cleft palate
OMIM:613091	WDR19	57728	HP:0000062	Ambiguous genitalia
OMIM:613091	WDR19	57728	HP:0002650	Scoliosis
OMIM:613091	WDR19	57728	HP:0000054	Micropenis
OMIM:613091	WDR19	57728	HP:0001156	Brachydactyly syndrome
OMIM:613091	WDR19	57728	HP:0003038	Fibular hypoplasia
OMIM:613091	WDR19	57728	HP:0003022	Hypoplasia of the ulna
OMIM:613091	WDR19	57728	HP:0001274	Agenesis of corpus callosum
OMIM:613091	WDR19	57728	HP:0010984	Digenic inheritance
OMIM:613091	WDR19	57728	HP:0010579	Cone-shaped epiphysis
OMIM:613091	WDR19	57728	HP:0003016	Metaphyseal widening
OMIM:613091	WDR19	57728	HP:0001762	Talipes equinovarus
OMIM:613091	WDR19	57728	HP:0002566	Intestinal malrotation
OMIM:613091	WDR19	57728	HP:0002023	Anal atresia
OMIM:613091	WDR19	57728	HP:0004322	Short stature
OMIM:613091	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:613091	WDR19	57728	HP:0000204	Cleft upper lip
OMIM:613091	WDR19	57728	HP:0000113	Polycystic kidney dysplasia
OMIM:613091	IFT172	26160	HP:0002980	Femoral bowing
OMIM:613091	IFT172	26160	HP:0100259	Postaxial polydactyly
OMIM:613091	IFT172	26160	HP:0005257	Thoracic hypoplasia
OMIM:613091	IFT172	26160	HP:0000110	Renal dysplasia
OMIM:613091	IFT172	26160	HP:0000773	Short ribs
OMIM:613091	IFT172	26160	HP:0002350	Cerebellar cyst
OMIM:613091	IFT172	26160	HP:0100258	Preaxial polydactyly
OMIM:613091	IFT172	26160	HP:0000175	Cleft palate
OMIM:613091	IFT172	26160	HP:0000062	Ambiguous genitalia
OMIM:613091	IFT172	26160	HP:0002650	Scoliosis
OMIM:613091	IFT172	26160	HP:0000054	Micropenis
OMIM:613091	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:613091	IFT172	26160	HP:0003038	Fibular hypoplasia
OMIM:613091	IFT172	26160	HP:0003022	Hypoplasia of the ulna
OMIM:613091	IFT172	26160	HP:0001274	Agenesis of corpus callosum
OMIM:613091	IFT172	26160	HP:0010984	Digenic inheritance
OMIM:613091	IFT172	26160	HP:0010579	Cone-shaped epiphysis
OMIM:613091	IFT172	26160	HP:0003016	Metaphyseal widening
OMIM:613091	IFT172	26160	HP:0001762	Talipes equinovarus
OMIM:613091	IFT172	26160	HP:0002566	Intestinal malrotation
OMIM:613091	IFT172	26160	HP:0002023	Anal atresia
OMIM:613091	IFT172	26160	HP:0004322	Short stature
OMIM:613091	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613091	IFT172	26160	HP:0000204	Cleft upper lip
OMIM:613091	IFT172	26160	HP:0000113	Polycystic kidney dysplasia
OMIM:613091	WDR34	89891	HP:0002980	Femoral bowing
OMIM:613091	WDR34	89891	HP:0100259	Postaxial polydactyly
OMIM:613091	WDR34	89891	HP:0005257	Thoracic hypoplasia
OMIM:613091	WDR34	89891	HP:0000110	Renal dysplasia
OMIM:613091	WDR34	89891	HP:0000773	Short ribs
OMIM:613091	WDR34	89891	HP:0002350	Cerebellar cyst
OMIM:613091	WDR34	89891	HP:0100258	Preaxial polydactyly
OMIM:613091	WDR34	89891	HP:0000175	Cleft palate
OMIM:613091	WDR34	89891	HP:0000062	Ambiguous genitalia
OMIM:613091	WDR34	89891	HP:0002650	Scoliosis
OMIM:613091	WDR34	89891	HP:0000054	Micropenis
OMIM:613091	WDR34	89891	HP:0001156	Brachydactyly syndrome
OMIM:613091	WDR34	89891	HP:0003038	Fibular hypoplasia
OMIM:613091	WDR34	89891	HP:0003022	Hypoplasia of the ulna
OMIM:613091	WDR34	89891	HP:0001274	Agenesis of corpus callosum
OMIM:613091	WDR34	89891	HP:0010984	Digenic inheritance
OMIM:613091	WDR34	89891	HP:0010579	Cone-shaped epiphysis
OMIM:613091	WDR34	89891	HP:0003016	Metaphyseal widening
OMIM:613091	WDR34	89891	HP:0001762	Talipes equinovarus
OMIM:613091	WDR34	89891	HP:0002566	Intestinal malrotation
OMIM:613091	WDR34	89891	HP:0002023	Anal atresia
OMIM:613091	WDR34	89891	HP:0004322	Short stature
OMIM:613091	WDR34	89891	HP:0000007	Autosomal recessive inheritance
OMIM:613091	WDR34	89891	HP:0000204	Cleft upper lip
OMIM:613091	WDR34	89891	HP:0000113	Polycystic kidney dysplasia
OMIM:613091	WDR35	57539	HP:0002980	Femoral bowing
OMIM:613091	WDR35	57539	HP:0100259	Postaxial polydactyly
OMIM:613091	WDR35	57539	HP:0005257	Thoracic hypoplasia
OMIM:613091	WDR35	57539	HP:0000110	Renal dysplasia
OMIM:613091	WDR35	57539	HP:0000773	Short ribs
OMIM:613091	WDR35	57539	HP:0002350	Cerebellar cyst
OMIM:613091	WDR35	57539	HP:0100258	Preaxial polydactyly
OMIM:613091	WDR35	57539	HP:0000175	Cleft palate
OMIM:613091	WDR35	57539	HP:0000062	Ambiguous genitalia
OMIM:613091	WDR35	57539	HP:0002650	Scoliosis
OMIM:613091	WDR35	57539	HP:0000054	Micropenis
OMIM:613091	WDR35	57539	HP:0001156	Brachydactyly syndrome
OMIM:613091	WDR35	57539	HP:0003038	Fibular hypoplasia
OMIM:613091	WDR35	57539	HP:0003022	Hypoplasia of the ulna
OMIM:613091	WDR35	57539	HP:0001274	Agenesis of corpus callosum
OMIM:613091	WDR35	57539	HP:0010984	Digenic inheritance
OMIM:613091	WDR35	57539	HP:0010579	Cone-shaped epiphysis
OMIM:613091	WDR35	57539	HP:0003016	Metaphyseal widening
OMIM:613091	WDR35	57539	HP:0001762	Talipes equinovarus
OMIM:613091	WDR35	57539	HP:0002566	Intestinal malrotation
OMIM:613091	WDR35	57539	HP:0002023	Anal atresia
OMIM:613091	WDR35	57539	HP:0004322	Short stature
OMIM:613091	WDR35	57539	HP:0000007	Autosomal recessive inheritance
OMIM:613091	WDR35	57539	HP:0000204	Cleft upper lip
OMIM:613091	WDR35	57539	HP:0000113	Polycystic kidney dysplasia
OMIM:613091	IFT80	57560	HP:0002980	Femoral bowing
OMIM:613091	IFT80	57560	HP:0100259	Postaxial polydactyly
OMIM:613091	IFT80	57560	HP:0005257	Thoracic hypoplasia
OMIM:613091	IFT80	57560	HP:0000110	Renal dysplasia
OMIM:613091	IFT80	57560	HP:0000773	Short ribs
OMIM:613091	IFT80	57560	HP:0002350	Cerebellar cyst
OMIM:613091	IFT80	57560	HP:0100258	Preaxial polydactyly
OMIM:613091	IFT80	57560	HP:0000175	Cleft palate
OMIM:613091	IFT80	57560	HP:0000062	Ambiguous genitalia
OMIM:613091	IFT80	57560	HP:0002650	Scoliosis
OMIM:613091	IFT80	57560	HP:0000054	Micropenis
OMIM:613091	IFT80	57560	HP:0001156	Brachydactyly syndrome
OMIM:613091	IFT80	57560	HP:0003038	Fibular hypoplasia
OMIM:613091	IFT80	57560	HP:0003022	Hypoplasia of the ulna
OMIM:613091	IFT80	57560	HP:0001274	Agenesis of corpus callosum
OMIM:613091	IFT80	57560	HP:0010984	Digenic inheritance
OMIM:613091	IFT80	57560	HP:0010579	Cone-shaped epiphysis
OMIM:613091	IFT80	57560	HP:0003016	Metaphyseal widening
OMIM:613091	IFT80	57560	HP:0001762	Talipes equinovarus
OMIM:613091	IFT80	57560	HP:0002566	Intestinal malrotation
OMIM:613091	IFT80	57560	HP:0002023	Anal atresia
OMIM:613091	IFT80	57560	HP:0004322	Short stature
OMIM:613091	IFT80	57560	HP:0000007	Autosomal recessive inheritance
OMIM:613091	IFT80	57560	HP:0000204	Cleft upper lip
OMIM:613091	IFT80	57560	HP:0000113	Polycystic kidney dysplasia
OMIM:613091	WDR60	55112	HP:0002980	Femoral bowing
OMIM:613091	WDR60	55112	HP:0100259	Postaxial polydactyly
OMIM:613091	WDR60	55112	HP:0005257	Thoracic hypoplasia
OMIM:613091	WDR60	55112	HP:0000110	Renal dysplasia
OMIM:613091	WDR60	55112	HP:0000773	Short ribs
OMIM:613091	WDR60	55112	HP:0002350	Cerebellar cyst
OMIM:613091	WDR60	55112	HP:0100258	Preaxial polydactyly
OMIM:613091	WDR60	55112	HP:0000175	Cleft palate
OMIM:613091	WDR60	55112	HP:0000062	Ambiguous genitalia
OMIM:613091	WDR60	55112	HP:0002650	Scoliosis
OMIM:613091	WDR60	55112	HP:0000054	Micropenis
OMIM:613091	WDR60	55112	HP:0001156	Brachydactyly syndrome
OMIM:613091	WDR60	55112	HP:0003038	Fibular hypoplasia
OMIM:613091	WDR60	55112	HP:0003022	Hypoplasia of the ulna
OMIM:613091	WDR60	55112	HP:0001274	Agenesis of corpus callosum
OMIM:613091	WDR60	55112	HP:0010984	Digenic inheritance
OMIM:613091	WDR60	55112	HP:0010579	Cone-shaped epiphysis
OMIM:613091	WDR60	55112	HP:0003016	Metaphyseal widening
OMIM:613091	WDR60	55112	HP:0001762	Talipes equinovarus
OMIM:613091	WDR60	55112	HP:0002566	Intestinal malrotation
OMIM:613091	WDR60	55112	HP:0002023	Anal atresia
OMIM:613091	WDR60	55112	HP:0004322	Short stature
OMIM:613091	WDR60	55112	HP:0000007	Autosomal recessive inheritance
OMIM:613091	WDR60	55112	HP:0000204	Cleft upper lip
OMIM:613091	WDR60	55112	HP:0000113	Polycystic kidney dysplasia
OMIM:613091	DYNC2H1	79659	HP:0002980	Femoral bowing
OMIM:613091	DYNC2H1	79659	HP:0100259	Postaxial polydactyly
OMIM:613091	DYNC2H1	79659	HP:0005257	Thoracic hypoplasia
OMIM:613091	DYNC2H1	79659	HP:0000110	Renal dysplasia
OMIM:613091	DYNC2H1	79659	HP:0000773	Short ribs
OMIM:613091	DYNC2H1	79659	HP:0002350	Cerebellar cyst
OMIM:613091	DYNC2H1	79659	HP:0100258	Preaxial polydactyly
OMIM:613091	DYNC2H1	79659	HP:0000175	Cleft palate
OMIM:613091	DYNC2H1	79659	HP:0000062	Ambiguous genitalia
OMIM:613091	DYNC2H1	79659	HP:0002650	Scoliosis
OMIM:613091	DYNC2H1	79659	HP:0000054	Micropenis
OMIM:613091	DYNC2H1	79659	HP:0001156	Brachydactyly syndrome
OMIM:613091	DYNC2H1	79659	HP:0003038	Fibular hypoplasia
OMIM:613091	DYNC2H1	79659	HP:0003022	Hypoplasia of the ulna
OMIM:613091	DYNC2H1	79659	HP:0001274	Agenesis of corpus callosum
OMIM:613091	DYNC2H1	79659	HP:0010984	Digenic inheritance
OMIM:613091	DYNC2H1	79659	HP:0010579	Cone-shaped epiphysis
OMIM:613091	DYNC2H1	79659	HP:0003016	Metaphyseal widening
OMIM:613091	DYNC2H1	79659	HP:0001762	Talipes equinovarus
OMIM:613091	DYNC2H1	79659	HP:0002566	Intestinal malrotation
OMIM:613091	DYNC2H1	79659	HP:0002023	Anal atresia
OMIM:613091	DYNC2H1	79659	HP:0004322	Short stature
OMIM:613091	DYNC2H1	79659	HP:0000007	Autosomal recessive inheritance
OMIM:613091	DYNC2H1	79659	HP:0000204	Cleft upper lip
OMIM:613091	DYNC2H1	79659	HP:0000113	Polycystic kidney dysplasia
OMIM:613091	CEP120	153241	HP:0002980	Femoral bowing
OMIM:613091	CEP120	153241	HP:0100259	Postaxial polydactyly
OMIM:613091	CEP120	153241	HP:0005257	Thoracic hypoplasia
OMIM:613091	CEP120	153241	HP:0000110	Renal dysplasia
OMIM:613091	CEP120	153241	HP:0000773	Short ribs
OMIM:613091	CEP120	153241	HP:0002350	Cerebellar cyst
OMIM:613091	CEP120	153241	HP:0100258	Preaxial polydactyly
OMIM:613091	CEP120	153241	HP:0000175	Cleft palate
OMIM:613091	CEP120	153241	HP:0000062	Ambiguous genitalia
OMIM:613091	CEP120	153241	HP:0002650	Scoliosis
OMIM:613091	CEP120	153241	HP:0000054	Micropenis
OMIM:613091	CEP120	153241	HP:0001156	Brachydactyly syndrome
OMIM:613091	CEP120	153241	HP:0003038	Fibular hypoplasia
OMIM:613091	CEP120	153241	HP:0003022	Hypoplasia of the ulna
OMIM:613091	CEP120	153241	HP:0001274	Agenesis of corpus callosum
OMIM:613091	CEP120	153241	HP:0010984	Digenic inheritance
OMIM:613091	CEP120	153241	HP:0010579	Cone-shaped epiphysis
OMIM:613091	CEP120	153241	HP:0003016	Metaphyseal widening
OMIM:613091	CEP120	153241	HP:0001762	Talipes equinovarus
OMIM:613091	CEP120	153241	HP:0002566	Intestinal malrotation
OMIM:613091	CEP120	153241	HP:0002023	Anal atresia
OMIM:613091	CEP120	153241	HP:0004322	Short stature
OMIM:613091	CEP120	153241	HP:0000007	Autosomal recessive inheritance
OMIM:613091	CEP120	153241	HP:0000204	Cleft upper lip
OMIM:613091	CEP120	153241	HP:0000113	Polycystic kidney dysplasia
OMIM:613091	IFT140	9742	HP:0002980	Femoral bowing
OMIM:613091	IFT140	9742	HP:0100259	Postaxial polydactyly
OMIM:613091	IFT140	9742	HP:0005257	Thoracic hypoplasia
OMIM:613091	IFT140	9742	HP:0000110	Renal dysplasia
OMIM:613091	IFT140	9742	HP:0000773	Short ribs
OMIM:613091	IFT140	9742	HP:0002350	Cerebellar cyst
OMIM:613091	IFT140	9742	HP:0100258	Preaxial polydactyly
OMIM:613091	IFT140	9742	HP:0000175	Cleft palate
OMIM:613091	IFT140	9742	HP:0000062	Ambiguous genitalia
OMIM:613091	IFT140	9742	HP:0002650	Scoliosis
OMIM:613091	IFT140	9742	HP:0000054	Micropenis
OMIM:613091	IFT140	9742	HP:0001156	Brachydactyly syndrome
OMIM:613091	IFT140	9742	HP:0003038	Fibular hypoplasia
OMIM:613091	IFT140	9742	HP:0003022	Hypoplasia of the ulna
OMIM:613091	IFT140	9742	HP:0001274	Agenesis of corpus callosum
OMIM:613091	IFT140	9742	HP:0010984	Digenic inheritance
OMIM:613091	IFT140	9742	HP:0010579	Cone-shaped epiphysis
OMIM:613091	IFT140	9742	HP:0003016	Metaphyseal widening
OMIM:613091	IFT140	9742	HP:0001762	Talipes equinovarus
OMIM:613091	IFT140	9742	HP:0002566	Intestinal malrotation
OMIM:613091	IFT140	9742	HP:0002023	Anal atresia
OMIM:613091	IFT140	9742	HP:0004322	Short stature
OMIM:613091	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613091	IFT140	9742	HP:0000204	Cleft upper lip
OMIM:613091	IFT140	9742	HP:0000113	Polycystic kidney dysplasia
OMIM:613091	NEK1	4750	HP:0002980	Femoral bowing
OMIM:613091	NEK1	4750	HP:0100259	Postaxial polydactyly
OMIM:613091	NEK1	4750	HP:0005257	Thoracic hypoplasia
OMIM:613091	NEK1	4750	HP:0000110	Renal dysplasia
OMIM:613091	NEK1	4750	HP:0000773	Short ribs
OMIM:613091	NEK1	4750	HP:0002350	Cerebellar cyst
OMIM:613091	NEK1	4750	HP:0100258	Preaxial polydactyly
OMIM:613091	NEK1	4750	HP:0000175	Cleft palate
OMIM:613091	NEK1	4750	HP:0000062	Ambiguous genitalia
OMIM:613091	NEK1	4750	HP:0002650	Scoliosis
OMIM:613091	NEK1	4750	HP:0000054	Micropenis
OMIM:613091	NEK1	4750	HP:0001156	Brachydactyly syndrome
OMIM:613091	NEK1	4750	HP:0003038	Fibular hypoplasia
OMIM:613091	NEK1	4750	HP:0003022	Hypoplasia of the ulna
OMIM:613091	NEK1	4750	HP:0001274	Agenesis of corpus callosum
OMIM:613091	NEK1	4750	HP:0010984	Digenic inheritance
OMIM:613091	NEK1	4750	HP:0010579	Cone-shaped epiphysis
OMIM:613091	NEK1	4750	HP:0003016	Metaphyseal widening
OMIM:613091	NEK1	4750	HP:0001762	Talipes equinovarus
OMIM:613091	NEK1	4750	HP:0002566	Intestinal malrotation
OMIM:613091	NEK1	4750	HP:0002023	Anal atresia
OMIM:613091	NEK1	4750	HP:0004322	Short stature
OMIM:613091	NEK1	4750	HP:0000007	Autosomal recessive inheritance
OMIM:613091	NEK1	4750	HP:0000204	Cleft upper lip
OMIM:613091	NEK1	4750	HP:0000113	Polycystic kidney dysplasia
OMIM:215150	COL2A1	1280	HP:0000347	Micrognathia
OMIM:215150	COL2A1	1280	HP:0000201	Pierre-Robin sequence
OMIM:215150	COL2A1	1280	HP:0000175	Cleft palate
OMIM:215150	COL2A1	1280	HP:0002938	Lumbar hyperlordosis
OMIM:215150	COL2A1	1280	HP:0011800	Hypoplasia of midface
OMIM:215150	COL2A1	1280	HP:0000944	Abnormality of the metaphyses
OMIM:215150	COL2A1	1280	HP:0006532	Recurrent pneumonia
OMIM:215150	COL2A1	1280	HP:0000414	Bulbous nose
OMIM:215150	COL2A1	1280	HP:0005048	Synostosis of carpal bones
OMIM:215150	COL2A1	1280	HP:0009803	Short phalanx of finger
OMIM:215150	COL2A1	1280	HP:0001371	Flexion contracture
OMIM:215150	COL2A1	1280	HP:0001376	Limitation of joint mobility
OMIM:215150	COL2A1	1280	HP:0002983	Micromelia
OMIM:215150	COL2A1	1280	HP:0003026	Short long bone
OMIM:215150	COL2A1	1280	HP:0004279	Short palm
OMIM:215150	COL2A1	1280	HP:0003417	Coronal cleft vertebrae
OMIM:215150	COL2A1	1280	HP:0000457	Depressed nasal ridge
OMIM:215150	COL2A1	1280	HP:0003312	Abnormal form of the vertebral bodies
OMIM:215150	COL2A1	1280	HP:0006237	Prominent interphalangeal joints
OMIM:215150	COL2A1	1280	HP:0000951	Abnormality of the skin
OMIM:215150	COL2A1	1280	HP:0003307	Hyperlordosis
OMIM:215150	COL2A1	1280	HP:0002808	Kyphosis
OMIM:215150	COL2A1	1280	HP:0000632	Lacrimation abnormality
OMIM:215150	COL2A1	1280	HP:0000007	Autosomal recessive inheritance
OMIM:215150	COL2A1	1280	HP:0010049	Short metacarpal
OMIM:215150	COL2A1	1280	HP:0010978	Abnormality of immune system physiology
OMIM:215150	COL2A1	1280	HP:0000463	Anteverted nares
OMIM:215150	COL2A1	1280	HP:0004322	Short stature
OMIM:215150	COL2A1	1280	HP:0000478	Abnormality of the eye
OMIM:215150	COL2A1	1280	HP:0000272	Malar flattening
OMIM:215150	COL2A1	1280	HP:0001629	Ventricular septal defect
OMIM:215150	COL2A1	1280	HP:0000407	Sensorineural hearing impairment
OMIM:215150	COL2A1	1280	HP:0003015	Flared metaphysis
OMIM:215150	COL2A1	1280	HP:0000486	Strabismus
OMIM:215150	COL2A1	1280	HP:0002829	Arthralgia
OMIM:215150	COL2A1	1280	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:215150	COL11A2	1302	HP:0000347	Micrognathia
OMIM:215150	COL11A2	1302	HP:0000201	Pierre-Robin sequence
OMIM:215150	COL11A2	1302	HP:0000175	Cleft palate
OMIM:215150	COL11A2	1302	HP:0002938	Lumbar hyperlordosis
OMIM:215150	COL11A2	1302	HP:0011800	Hypoplasia of midface
OMIM:215150	COL11A2	1302	HP:0000944	Abnormality of the metaphyses
OMIM:215150	COL11A2	1302	HP:0006532	Recurrent pneumonia
OMIM:215150	COL11A2	1302	HP:0000414	Bulbous nose
OMIM:215150	COL11A2	1302	HP:0005048	Synostosis of carpal bones
OMIM:215150	COL11A2	1302	HP:0009803	Short phalanx of finger
OMIM:215150	COL11A2	1302	HP:0001371	Flexion contracture
OMIM:215150	COL11A2	1302	HP:0001376	Limitation of joint mobility
OMIM:215150	COL11A2	1302	HP:0002983	Micromelia
OMIM:215150	COL11A2	1302	HP:0003026	Short long bone
OMIM:215150	COL11A2	1302	HP:0004279	Short palm
OMIM:215150	COL11A2	1302	HP:0003417	Coronal cleft vertebrae
OMIM:215150	COL11A2	1302	HP:0000457	Depressed nasal ridge
OMIM:215150	COL11A2	1302	HP:0003312	Abnormal form of the vertebral bodies
OMIM:215150	COL11A2	1302	HP:0006237	Prominent interphalangeal joints
OMIM:215150	COL11A2	1302	HP:0000951	Abnormality of the skin
OMIM:215150	COL11A2	1302	HP:0003307	Hyperlordosis
OMIM:215150	COL11A2	1302	HP:0002808	Kyphosis
OMIM:215150	COL11A2	1302	HP:0000632	Lacrimation abnormality
OMIM:215150	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:215150	COL11A2	1302	HP:0010049	Short metacarpal
OMIM:215150	COL11A2	1302	HP:0010978	Abnormality of immune system physiology
OMIM:215150	COL11A2	1302	HP:0000463	Anteverted nares
OMIM:215150	COL11A2	1302	HP:0004322	Short stature
OMIM:215150	COL11A2	1302	HP:0000478	Abnormality of the eye
OMIM:215150	COL11A2	1302	HP:0000272	Malar flattening
OMIM:215150	COL11A2	1302	HP:0001629	Ventricular septal defect
OMIM:215150	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:215150	COL11A2	1302	HP:0003015	Flared metaphysis
OMIM:215150	COL11A2	1302	HP:0000486	Strabismus
OMIM:215150	COL11A2	1302	HP:0002829	Arthralgia
OMIM:215150	COL11A2	1302	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:613735	NFIA	4774	HP:0000369	Low-set ears
OMIM:613735	NFIA	4774	HP:0000965	Cutis marmorata
OMIM:613735	NFIA	4774	HP:0000337	Broad forehead
OMIM:613735	NFIA	4774	HP:0000256	Macrocephaly
OMIM:613735	NFIA	4774	HP:0001263	Global developmental delay
OMIM:613735	NFIA	4774	HP:0001250	Seizures
OMIM:613735	NFIA	4774	HP:0007099	Arnold-Chiari type I malformation
OMIM:613735	NFIA	4774	HP:0000023	Inguinal hernia
OMIM:613735	NFIA	4774	HP:0000160	Narrow mouth
OMIM:613735	NFIA	4774	HP:0000463	Anteverted nares
OMIM:613735	NFIA	4774	HP:0000076	Vesicoureteral reflux
OMIM:613735	NFIA	4774	HP:0001274	Agenesis of corpus callosum
OMIM:613735	NFIA	4774	HP:0000331	Short chin
OMIM:613735	NFIA	4774	HP:0000219	Thin upper lip vermilion
OMIM:613735	NFIA	4774	HP:0000126	Hydronephrosis
OMIM:613735	NFIA	4774	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613735	NFIA	4774	HP:0001249	Intellectual disability
OMIM:613735	NFIA	4774	HP:0003196	Short nose
OMIM:613735	NFIA	4774	HP:0000089	Renal hypoplasia
OMIM:613735	NFIA	4774	HP:0001252	Muscular hypotonia
OMIM:613735	NFIA	4774	HP:0002119	Ventriculomegaly
OMIM:616304	MUSK	4593	HP:0001265	Hyporeflexia
OMIM:616304	MUSK	4593	HP:0011968	Feeding difficulties
OMIM:616304	MUSK	4593	HP:0000508	Ptosis
OMIM:616304	MUSK	4593	HP:0002355	Difficulty walking
OMIM:616304	CHRNB1	1140	HP:0001265	Hyporeflexia
OMIM:616304	CHRNB1	1140	HP:0011968	Feeding difficulties
OMIM:616304	CHRNB1	1140	HP:0000508	Ptosis
OMIM:616304	CHRNB1	1140	HP:0002355	Difficulty walking
OMIM:616304	DOK7	285489	HP:0001265	Hyporeflexia
OMIM:616304	DOK7	285489	HP:0011968	Feeding difficulties
OMIM:616304	DOK7	285489	HP:0000508	Ptosis
OMIM:616304	DOK7	285489	HP:0002355	Difficulty walking
OMIM:616304	LRP4	4038	HP:0001265	Hyporeflexia
OMIM:616304	LRP4	4038	HP:0011968	Feeding difficulties
OMIM:616304	LRP4	4038	HP:0000508	Ptosis
OMIM:616304	LRP4	4038	HP:0002355	Difficulty walking
OMIM:616304	CHRND	1144	HP:0001265	Hyporeflexia
OMIM:616304	CHRND	1144	HP:0011968	Feeding difficulties
OMIM:616304	CHRND	1144	HP:0000508	Ptosis
OMIM:616304	CHRND	1144	HP:0002355	Difficulty walking
OMIM:616304	RAPSN	5913	HP:0001265	Hyporeflexia
OMIM:616304	RAPSN	5913	HP:0011968	Feeding difficulties
OMIM:616304	RAPSN	5913	HP:0000508	Ptosis
OMIM:616304	RAPSN	5913	HP:0002355	Difficulty walking
OMIM:616304	SCN4A	6329	HP:0001265	Hyporeflexia
OMIM:616304	SCN4A	6329	HP:0011968	Feeding difficulties
OMIM:616304	SCN4A	6329	HP:0000508	Ptosis
OMIM:616304	SCN4A	6329	HP:0002355	Difficulty walking
OMIM:616304	CHRNE	1145	HP:0001265	Hyporeflexia
OMIM:616304	CHRNE	1145	HP:0011968	Feeding difficulties
OMIM:616304	CHRNE	1145	HP:0000508	Ptosis
OMIM:616304	CHRNE	1145	HP:0002355	Difficulty walking
OMIM:616304	AGRN	375790	HP:0001265	Hyporeflexia
OMIM:616304	AGRN	375790	HP:0011968	Feeding difficulties
OMIM:616304	AGRN	375790	HP:0000508	Ptosis
OMIM:616304	AGRN	375790	HP:0002355	Difficulty walking
OMIM:616304	CHRNA1	1134	HP:0001265	Hyporeflexia
OMIM:616304	CHRNA1	1134	HP:0011968	Feeding difficulties
OMIM:616304	CHRNA1	1134	HP:0000508	Ptosis
OMIM:616304	CHRNA1	1134	HP:0002355	Difficulty walking
OMIM:226900	SLC26A2	1836	HP:0000175	Cleft palate
OMIM:226900	SLC26A2	1836	HP:0004322	Short stature
OMIM:226900	SLC26A2	1836	HP:0002650	Scoliosis
OMIM:226900	SLC26A2	1836	HP:0002829	Arthralgia
OMIM:226900	SLC26A2	1836	HP:0000007	Autosomal recessive inheritance
OMIM:226900	SLC26A2	1836	HP:0005930	Abnormality of epiphysis morphology
OMIM:226900	SLC26A2	1836	HP:0001385	Hip dysplasia
OMIM:226900	SLC26A2	1836	HP:0010049	Short metacarpal
OMIM:226900	SLC26A2	1836	HP:0001156	Brachydactyly syndrome
OMIM:226900	SLC26A2	1836	HP:0000364	Hearing abnormality
OMIM:226900	SLC26A2	1836	HP:0006443	Patellar aplasia
OMIM:226900	SLC26A2	1836	HP:0002758	Osteoarthritis
OMIM:226900	SLC26A2	1836	HP:0004209	Clinodactyly of the 5th finger
OMIM:226900	SLC26A2	1836	HP:0001883	Talipes
OMIM:226900	SLC26A2	1836	HP:0001762	Talipes equinovarus
OMIM:613112	TUBB1	81027	HP:0000006	Autosomal dominant inheritance
OMIM:613112	ACTN1	87	HP:0000006	Autosomal dominant inheritance
OMIM:613112	ITGA2B	3674	HP:0000006	Autosomal dominant inheritance
OMIM:613112	ITGB3	3690	HP:0000006	Autosomal dominant inheritance
OMIM:614329	METTL23	124512	HP:0001249	Intellectual disability
OMIM:614329	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:614329	CRADD	8738	HP:0001249	Intellectual disability
OMIM:614329	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:614329	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:614329	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:614329	FMN2	56776	HP:0001249	Intellectual disability
OMIM:614329	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:614329	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:614329	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:614329	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:614329	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:614329	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:614329	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:614329	LINS1	55180	HP:0001249	Intellectual disability
OMIM:614329	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614329	NDST1	3340	HP:0001249	Intellectual disability
OMIM:614329	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:614329	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:614329	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:614329	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:614329	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:614329	CRBN	51185	HP:0001249	Intellectual disability
OMIM:614329	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:614329	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:614329	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:614329	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:614329	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:614329	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:614329	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:614329	TECR	9524	HP:0001249	Intellectual disability
OMIM:614329	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:614329	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:614329	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:614329	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:614329	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:614329	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:614329	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:614329	EDC3	80153	HP:0001249	Intellectual disability
OMIM:614329	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:614329	MED13L	23389	HP:0001249	Intellectual disability
OMIM:614329	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:614329	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:614329	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:614329	MED23	9439	HP:0001249	Intellectual disability
OMIM:614329	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:144250	LPL	4023	HP:0001114	Xanthelasma
OMIM:144250	LPL	4023	HP:0000006	Autosomal dominant inheritance
OMIM:144250	LPL	4023	HP:0001658	Myocardial infarction
OMIM:144250	LPL	4023	HP:0008356	Combined hyperlipidemia
OMIM:208550	TBX21	30009	HP:0002099	Asthma
OMIM:208550	TBX21	30009	HP:0000007	Autosomal recessive inheritance
OMIM:616298	DDX58	23586	HP:0001650	Aortic valve stenosis
OMIM:616298	DDX58	23586	HP:0000962	Hyperkeratosis
OMIM:616298	DDX58	23586	HP:0004322	Short stature
OMIM:616298	DDX58	23586	HP:0000501	Glaucoma
OMIM:616298	IFIH1	64135	HP:0001650	Aortic valve stenosis
OMIM:616298	IFIH1	64135	HP:0000962	Hyperkeratosis
OMIM:616298	IFIH1	64135	HP:0004322	Short stature
OMIM:616298	IFIH1	64135	HP:0000501	Glaucoma
OMIM:605115	NR3C2	4306	HP:0000822	Hypertension
OMIM:605115	NR3C2	4306	HP:0000006	Autosomal dominant inheritance
OMIM:615081	KLHL10	317719	HP:0012864	Abnormal sperm morphology
OMIM:615081	KLHL10	317719	HP:0000006	Autosomal dominant inheritance
OMIM:615081	KLHL10	317719	HP:0000789	Infertility
OMIM:614936	AAGAB	79719	HP:0000962	Hyperkeratosis
OMIM:614936	AAGAB	79719	HP:0000006	Autosomal dominant inheritance
OMIM:614936	COL14A1	7373	HP:0000962	Hyperkeratosis
OMIM:614936	COL14A1	7373	HP:0000006	Autosomal dominant inheritance
OMIM:616366	KCNA2	3737	HP:0001251	Ataxia
OMIM:616366	KCNA2	3737	HP:0001337	Tremor
OMIM:616366	KCNA2	3737	HP:0200134	Epileptic encephalopathy
OMIM:616366	KCNA2	3737	HP:0001336	Myoclonus
OMIM:616366	KCNA2	3737	HP:0001250	Seizures
OMIM:616500	COA6	388753	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616500	SCO1	6341	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616500	COX15	1355	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616500	SCO2	9997	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616500	COA5	493753	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252011	SDHA	6389	HP:0001257	Spasticity
OMIM:252011	SDHA	6389	HP:0001371	Flexion contracture
OMIM:252011	SDHA	6389	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252011	SDHA	6389	HP:0000007	Autosomal recessive inheritance
OMIM:252011	SDHA	6389	HP:0003487	Babinski sign
OMIM:252011	SDHA	6389	HP:0004322	Short stature
OMIM:252011	SDHA	6389	HP:0100543	Cognitive impairment
OMIM:252011	SDHA	6389	HP:0000648	Optic atrophy
OMIM:252011	SDHA	6389	HP:0001250	Seizures
OMIM:252011	SDHA	6389	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252011	SDHA	6389	HP:0000505	Visual impairment
OMIM:252011	SDHA	6389	HP:0000639	Nystagmus
OMIM:252011	SDHA	6389	HP:0002151	Increased serum lactate
OMIM:252011	SDHA	6389	HP:0001347	Hyperreflexia
OMIM:252011	SDHA	6389	HP:0001319	Neonatal hypotonia
OMIM:252011	SDHA	6389	HP:0002352	Leukoencephalopathy
OMIM:252011	SDHA	6389	HP:0002376	Developmental regression
OMIM:252011	SDHA	6389	HP:0003546	Exercise intolerance
OMIM:252011	SDHA	6389	HP:0001336	Myoclonus
OMIM:252011	SDHA	6389	HP:0000602	Ophthalmoplegia
OMIM:252011	SDHA	6389	HP:0001324	Muscle weakness
OMIM:252011	SDHA	6389	HP:0000508	Ptosis
OMIM:252011	SDHA	6389	HP:0003593	Infantile onset
OMIM:252011	SDHA	6389	HP:0001251	Ataxia
OMIM:252011	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:252011	SDHA	6389	HP:0000580	Pigmentary retinopathy
OMIM:252011	SDHA	6389	HP:0001332	Dystonia
OMIM:252011	SDHA	6389	HP:0003812	Phenotypic variability
OMIM:252011	SDHB	6390	HP:0001257	Spasticity
OMIM:252011	SDHB	6390	HP:0001371	Flexion contracture
OMIM:252011	SDHB	6390	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252011	SDHB	6390	HP:0000007	Autosomal recessive inheritance
OMIM:252011	SDHB	6390	HP:0003487	Babinski sign
OMIM:252011	SDHB	6390	HP:0004322	Short stature
OMIM:252011	SDHB	6390	HP:0100543	Cognitive impairment
OMIM:252011	SDHB	6390	HP:0000648	Optic atrophy
OMIM:252011	SDHB	6390	HP:0001250	Seizures
OMIM:252011	SDHB	6390	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252011	SDHB	6390	HP:0000505	Visual impairment
OMIM:252011	SDHB	6390	HP:0000639	Nystagmus
OMIM:252011	SDHB	6390	HP:0002151	Increased serum lactate
OMIM:252011	SDHB	6390	HP:0001347	Hyperreflexia
OMIM:252011	SDHB	6390	HP:0001319	Neonatal hypotonia
OMIM:252011	SDHB	6390	HP:0002352	Leukoencephalopathy
OMIM:252011	SDHB	6390	HP:0002376	Developmental regression
OMIM:252011	SDHB	6390	HP:0003546	Exercise intolerance
OMIM:252011	SDHB	6390	HP:0001336	Myoclonus
OMIM:252011	SDHB	6390	HP:0000602	Ophthalmoplegia
OMIM:252011	SDHB	6390	HP:0001324	Muscle weakness
OMIM:252011	SDHB	6390	HP:0000508	Ptosis
OMIM:252011	SDHB	6390	HP:0003593	Infantile onset
OMIM:252011	SDHB	6390	HP:0001251	Ataxia
OMIM:252011	SDHB	6390	HP:0001644	Dilated cardiomyopathy
OMIM:252011	SDHB	6390	HP:0000580	Pigmentary retinopathy
OMIM:252011	SDHB	6390	HP:0001332	Dystonia
OMIM:252011	SDHB	6390	HP:0003812	Phenotypic variability
OMIM:252011	SDHD	6392	HP:0001257	Spasticity
OMIM:252011	SDHD	6392	HP:0001371	Flexion contracture
OMIM:252011	SDHD	6392	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252011	SDHD	6392	HP:0000007	Autosomal recessive inheritance
OMIM:252011	SDHD	6392	HP:0003487	Babinski sign
OMIM:252011	SDHD	6392	HP:0004322	Short stature
OMIM:252011	SDHD	6392	HP:0100543	Cognitive impairment
OMIM:252011	SDHD	6392	HP:0000648	Optic atrophy
OMIM:252011	SDHD	6392	HP:0001250	Seizures
OMIM:252011	SDHD	6392	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252011	SDHD	6392	HP:0000505	Visual impairment
OMIM:252011	SDHD	6392	HP:0000639	Nystagmus
OMIM:252011	SDHD	6392	HP:0002151	Increased serum lactate
OMIM:252011	SDHD	6392	HP:0001347	Hyperreflexia
OMIM:252011	SDHD	6392	HP:0001319	Neonatal hypotonia
OMIM:252011	SDHD	6392	HP:0002352	Leukoencephalopathy
OMIM:252011	SDHD	6392	HP:0002376	Developmental regression
OMIM:252011	SDHD	6392	HP:0003546	Exercise intolerance
OMIM:252011	SDHD	6392	HP:0001336	Myoclonus
OMIM:252011	SDHD	6392	HP:0000602	Ophthalmoplegia
OMIM:252011	SDHD	6392	HP:0001324	Muscle weakness
OMIM:252011	SDHD	6392	HP:0000508	Ptosis
OMIM:252011	SDHD	6392	HP:0003593	Infantile onset
OMIM:252011	SDHD	6392	HP:0001251	Ataxia
OMIM:252011	SDHD	6392	HP:0001644	Dilated cardiomyopathy
OMIM:252011	SDHD	6392	HP:0000580	Pigmentary retinopathy
OMIM:252011	SDHD	6392	HP:0001332	Dystonia
OMIM:252011	SDHD	6392	HP:0003812	Phenotypic variability
OMIM:252011	SDHAF1	644096	HP:0001257	Spasticity
OMIM:252011	SDHAF1	644096	HP:0001371	Flexion contracture
OMIM:252011	SDHAF1	644096	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252011	SDHAF1	644096	HP:0000007	Autosomal recessive inheritance
OMIM:252011	SDHAF1	644096	HP:0003487	Babinski sign
OMIM:252011	SDHAF1	644096	HP:0004322	Short stature
OMIM:252011	SDHAF1	644096	HP:0100543	Cognitive impairment
OMIM:252011	SDHAF1	644096	HP:0000648	Optic atrophy
OMIM:252011	SDHAF1	644096	HP:0001250	Seizures
OMIM:252011	SDHAF1	644096	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252011	SDHAF1	644096	HP:0000505	Visual impairment
OMIM:252011	SDHAF1	644096	HP:0000639	Nystagmus
OMIM:252011	SDHAF1	644096	HP:0002151	Increased serum lactate
OMIM:252011	SDHAF1	644096	HP:0001347	Hyperreflexia
OMIM:252011	SDHAF1	644096	HP:0001319	Neonatal hypotonia
OMIM:252011	SDHAF1	644096	HP:0002352	Leukoencephalopathy
OMIM:252011	SDHAF1	644096	HP:0002376	Developmental regression
OMIM:252011	SDHAF1	644096	HP:0003546	Exercise intolerance
OMIM:252011	SDHAF1	644096	HP:0001336	Myoclonus
OMIM:252011	SDHAF1	644096	HP:0000602	Ophthalmoplegia
OMIM:252011	SDHAF1	644096	HP:0001324	Muscle weakness
OMIM:252011	SDHAF1	644096	HP:0000508	Ptosis
OMIM:252011	SDHAF1	644096	HP:0003593	Infantile onset
OMIM:252011	SDHAF1	644096	HP:0001251	Ataxia
OMIM:252011	SDHAF1	644096	HP:0001644	Dilated cardiomyopathy
OMIM:252011	SDHAF1	644096	HP:0000580	Pigmentary retinopathy
OMIM:252011	SDHAF1	644096	HP:0001332	Dystonia
OMIM:252011	SDHAF1	644096	HP:0003812	Phenotypic variability
OMIM:256600	PLA2G6	8398	HP:0000365	Hearing impairment
OMIM:256600	PLA2G6	8398	HP:0001250	Seizures
OMIM:256600	PLA2G6	8398	HP:0001284	Areflexia
OMIM:256600	PLA2G6	8398	HP:0002171	Gliosis
OMIM:256600	PLA2G6	8398	HP:0003324	Generalized muscle weakness
OMIM:256600	PLA2G6	8398	HP:0000649	Abnormality of visual evoked potentials
OMIM:256600	PLA2G6	8398	HP:0002529	Neuronal loss in central nervous system
OMIM:256600	PLA2G6	8398	HP:0000007	Autosomal recessive inheritance
OMIM:256600	PLA2G6	8398	HP:0000486	Strabismus
OMIM:256600	PLA2G6	8398	HP:0001272	Cerebellar atrophy
OMIM:256600	PLA2G6	8398	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:256600	PLA2G6	8398	HP:0011220	Prominent forehead
OMIM:256600	PLA2G6	8398	HP:0001347	Hyperreflexia
OMIM:256600	PLA2G6	8398	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:256600	PLA2G6	8398	HP:0000639	Nystagmus
OMIM:256600	PLA2G6	8398	HP:0001251	Ataxia
OMIM:256600	PLA2G6	8398	HP:0001252	Muscular hypotonia
OMIM:256600	PLA2G6	8398	HP:0000648	Optic atrophy
OMIM:256600	PLA2G6	8398	HP:0002180	Neurodegeneration
OMIM:256600	PLA2G6	8398	HP:0002007	Frontal bossing
OMIM:256600	PLA2G6	8398	HP:0001249	Intellectual disability
OMIM:256600	PLA2G6	8398	HP:0002376	Developmental regression
OMIM:256600	PLA2G6	8398	HP:0002510	Spastic tetraplegia
OMIM:256600	PLA2G6	8398	HP:0003593	Infantile onset
OMIM:256600	PLA2G6	8398	HP:0003444	EMG: chronic denervation signs
OMIM:256600	PLA2G6	8398	HP:0003196	Short nose
OMIM:256600	PLA2G6	8398	HP:0002317	Unsteady gait
OMIM:256600	PLA2G6	8398	HP:0000762	Decreased nerve conduction velocity
OMIM:256600	PLA2G6	8398	HP:0002059	Cerebral atrophy
OMIM:256600	PLA2G6	8398	HP:0001263	Global developmental delay
OMIM:256600	PLA2G6	8398	HP:0000347	Micrognathia
OMIM:256600	PLA2G6	8398	HP:0007256	Abnormal pyramidal signs
OMIM:256600	PLA2G6	8398	HP:0000572	Visual loss
OMIM:613090	BSND	7809	HP:0001265	Hyporeflexia
OMIM:613090	BSND	7809	HP:0000969	Edema
OMIM:613090	BSND	7809	HP:0001270	Motor delay
OMIM:613090	BSND	7809	HP:0001425	Heterogeneous
OMIM:613090	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:613090	BSND	7809	HP:0001561	Polyhydramnios
OMIM:613090	BSND	7809	HP:0001622	Premature birth
OMIM:613090	BSND	7809	HP:0003577	Congenital onset
OMIM:613090	BSND	7809	HP:0001508	Failure to thrive
OMIM:613090	BSND	7809	HP:0000083	Renal insufficiency
OMIM:613090	BSND	7809	HP:0001249	Intellectual disability
OMIM:613090	BSND	7809	HP:0001252	Muscular hypotonia
OMIM:613090	CLCNKA	1187	HP:0001265	Hyporeflexia
OMIM:613090	CLCNKA	1187	HP:0000969	Edema
OMIM:613090	CLCNKA	1187	HP:0001270	Motor delay
OMIM:613090	CLCNKA	1187	HP:0001425	Heterogeneous
OMIM:613090	CLCNKA	1187	HP:0000407	Sensorineural hearing impairment
OMIM:613090	CLCNKA	1187	HP:0001561	Polyhydramnios
OMIM:613090	CLCNKA	1187	HP:0001622	Premature birth
OMIM:613090	CLCNKA	1187	HP:0003577	Congenital onset
OMIM:613090	CLCNKA	1187	HP:0001508	Failure to thrive
OMIM:613090	CLCNKA	1187	HP:0000083	Renal insufficiency
OMIM:613090	CLCNKA	1187	HP:0001249	Intellectual disability
OMIM:613090	CLCNKA	1187	HP:0001252	Muscular hypotonia
OMIM:613090	CLCNKB	1188	HP:0001265	Hyporeflexia
OMIM:613090	CLCNKB	1188	HP:0000969	Edema
OMIM:613090	CLCNKB	1188	HP:0001270	Motor delay
OMIM:613090	CLCNKB	1188	HP:0001425	Heterogeneous
OMIM:613090	CLCNKB	1188	HP:0000407	Sensorineural hearing impairment
OMIM:613090	CLCNKB	1188	HP:0001561	Polyhydramnios
OMIM:613090	CLCNKB	1188	HP:0001622	Premature birth
OMIM:613090	CLCNKB	1188	HP:0003577	Congenital onset
OMIM:613090	CLCNKB	1188	HP:0001508	Failure to thrive
OMIM:613090	CLCNKB	1188	HP:0000083	Renal insufficiency
OMIM:613090	CLCNKB	1188	HP:0001249	Intellectual disability
OMIM:613090	CLCNKB	1188	HP:0001252	Muscular hypotonia
OMIM:615726	KRT17	3872	HP:0000982	Palmoplantar keratoderma
OMIM:615726	KRT17	3872	HP:0008404	Nail dystrophy
OMIM:615726	KRT17	3872	HP:0000230	Gingivitis
OMIM:615726	KRT17	3872	HP:0000975	Hyperhidrosis
OMIM:615726	KRT17	3872	HP:0200040	Epidermoid cyst
OMIM:615726	KRT16	3868	HP:0000982	Palmoplantar keratoderma
OMIM:615726	KRT16	3868	HP:0008404	Nail dystrophy
OMIM:615726	KRT16	3868	HP:0000230	Gingivitis
OMIM:615726	KRT16	3868	HP:0000975	Hyperhidrosis
OMIM:615726	KRT16	3868	HP:0200040	Epidermoid cyst
OMIM:615726	KRT6A	3853	HP:0000982	Palmoplantar keratoderma
OMIM:615726	KRT6A	3853	HP:0008404	Nail dystrophy
OMIM:615726	KRT6A	3853	HP:0000230	Gingivitis
OMIM:615726	KRT6A	3853	HP:0000975	Hyperhidrosis
OMIM:615726	KRT6A	3853	HP:0200040	Epidermoid cyst
OMIM:615726	KRT6B	3854	HP:0000982	Palmoplantar keratoderma
OMIM:615726	KRT6B	3854	HP:0008404	Nail dystrophy
OMIM:615726	KRT6B	3854	HP:0000230	Gingivitis
OMIM:615726	KRT6B	3854	HP:0000975	Hyperhidrosis
OMIM:615726	KRT6B	3854	HP:0200040	Epidermoid cyst
OMIM:114550	APC	324	HP:0001428	Somatic mutation
OMIM:114550	APC	324	HP:0000006	Autosomal dominant inheritance
OMIM:114550	PDGFRL	5157	HP:0001428	Somatic mutation
OMIM:114550	PDGFRL	5157	HP:0000006	Autosomal dominant inheritance
OMIM:114550	TP53	7157	HP:0001428	Somatic mutation
OMIM:114550	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:114550	AXIN1	8312	HP:0001428	Somatic mutation
OMIM:114550	AXIN1	8312	HP:0000006	Autosomal dominant inheritance
OMIM:114550	CASP8	841	HP:0001428	Somatic mutation
OMIM:114550	CASP8	841	HP:0000006	Autosomal dominant inheritance
OMIM:114550	MET	4233	HP:0001428	Somatic mutation
OMIM:114550	MET	4233	HP:0000006	Autosomal dominant inheritance
OMIM:114550	PIK3CA	5290	HP:0001428	Somatic mutation
OMIM:114550	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:114550	IGF2R	3482	HP:0001428	Somatic mutation
OMIM:114550	IGF2R	3482	HP:0000006	Autosomal dominant inheritance
OMIM:114550	CTNNB1	1499	HP:0001428	Somatic mutation
OMIM:114550	CTNNB1	1499	HP:0000006	Autosomal dominant inheritance
OMIM:609698	SECISBP2	79048	HP:0000007	Autosomal recessive inheritance
OMIM:609698	SECISBP2	79048	HP:0002750	Delayed skeletal maturation
OMIM:607084	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:607084	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:607084	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:607084	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:607084	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:607084	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:607084	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:607084	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:607084	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:607084	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:607084	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:607084	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:607084	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:607084	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:607084	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:607084	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:607084	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:607084	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:607084	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:607084	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:607084	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:607084	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:607084	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:607084	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:607084	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:607084	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:607084	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:607084	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:607084	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:607084	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:607084	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:607084	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:607084	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:607084	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:607084	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:607084	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:607084	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:607084	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:607084	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:607084	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:607084	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:607084	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:607084	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:607084	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:607084	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:607084	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:607084	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:607084	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:607084	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:607084	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:607084	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:607084	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:607084	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:607084	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:607084	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:607084	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:607084	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:607084	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:607084	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:607084	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:607084	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:607084	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:607084	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:607084	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:607084	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:607084	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:607084	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:607084	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:607084	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:607084	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:607084	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:607084	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:607084	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:607084	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:607084	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:607084	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:607084	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:607084	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:607084	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:607084	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:607084	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:607084	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:607084	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:607084	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:607084	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:607084	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:607084	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:607084	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:607084	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:607084	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:607084	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:607084	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:607084	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:607084	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:607084	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:607084	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:607084	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:607084	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:607084	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:607084	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:607084	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:607084	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:607084	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:607084	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:607084	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:607084	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:607084	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:607084	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:607084	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:607084	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:607084	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:607084	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:607084	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:607084	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:607084	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:607084	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:607084	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:607084	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:607084	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:607084	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:304400	POU3F4	5456	HP:0000405	Conductive hearing impairment
OMIM:304400	POU3F4	5456	HP:0001419	X-linked recessive inheritance
OMIM:304400	POU3F4	5456	HP:0000408	Progressive sensorineural hearing impairment
OMIM:304400	POU3F4	5456	HP:0000381	Stapes ankylosis
OMIM:611812	WNT4	54361	HP:0012245	Sex reversal
OMIM:611812	WNT4	54361	HP:0000007	Autosomal recessive inheritance
OMIM:611812	WNT4	54361	HP:0000104	Renal agenesis
OMIM:150699	HMGA2	8091	HP:0000006	Autosomal dominant inheritance
OMIM:150699	HMGA2	8091	HP:0001428	Somatic mutation
OMIM:615710	RFX6	222546	HP:0001511	Intrauterine growth retardation
OMIM:615710	RFX6	222546	HP:0000007	Autosomal recessive inheritance
OMIM:615710	RFX6	222546	HP:0003074	Hyperglycemia
OMIM:615710	RFX6	222546	HP:0002247	Duodenal atresia
OMIM:615710	RFX6	222546	HP:0002566	Intestinal malrotation
OMIM:615710	RFX6	222546	HP:0011985	Acholic stools
OMIM:615710	RFX6	222546	HP:0002014	Diarrhea
OMIM:615710	RFX6	222546	HP:0005912	Biliary atresia
OMIM:615710	RFX6	222546	HP:0002904	Hyperbilirubinemia
OMIM:615710	RFX6	222546	HP:0002024	Malabsorption
OMIM:613865	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:613865	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:613865	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:613865	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:613865	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:613865	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:613865	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:613865	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:613865	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:613865	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:613865	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:613865	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:613865	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:613865	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:613865	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:613865	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:613865	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:613865	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:613865	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:613865	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:613865	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:613865	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:613865	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:613865	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:613865	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:613865	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:613865	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:613865	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:613865	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:613865	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:613865	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:613865	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:613865	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:613865	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:613865	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:613865	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:613865	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:613865	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:613865	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:613865	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613865	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:613865	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:613865	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:613865	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:613865	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:613865	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:613865	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:613865	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:613865	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:613865	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:613865	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:613865	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:613865	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:613865	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:613865	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:613865	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:613865	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:613865	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:613865	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:613865	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:613865	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:613865	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:613865	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:613865	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:613865	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:613865	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:613865	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:613865	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:613865	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:613865	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:613865	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:613865	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:613865	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:613865	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:613865	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:613865	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:613865	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:613865	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613865	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:613865	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:613865	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:613865	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:613865	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:613865	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:613865	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:613865	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:613865	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:613865	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:613865	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:613865	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:613865	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:613865	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:613865	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:613865	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:613865	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:613865	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:613865	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:613865	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:613865	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:613865	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:613865	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:613865	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:613865	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:613865	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:613865	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:613865	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:613865	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:613865	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:613865	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:613865	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:613865	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:613865	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:613865	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:613865	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:613865	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:613865	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:613865	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:613865	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:613865	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:613865	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:616220	CRB2	286204	HP:0000100	Nephrotic syndrome
OMIM:616220	CRB2	286204	HP:0000097	Focal segmental glomerulosclerosis
OMIM:194071	POU6F2	11281	HP:0000006	Autosomal dominant inheritance
OMIM:194071	POU6F2	11281	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194071	POU6F2	11281	HP:0001428	Somatic mutation
OMIM:194071	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:194071	WT1	7490	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194071	WT1	7490	HP:0001428	Somatic mutation
OMIM:194071	H19	283120	HP:0000006	Autosomal dominant inheritance
OMIM:194071	H19	283120	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194071	H19	283120	HP:0001428	Somatic mutation
OMIM:194071	DIS3L2	129563	HP:0000006	Autosomal dominant inheritance
OMIM:194071	DIS3L2	129563	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194071	DIS3L2	129563	HP:0001428	Somatic mutation
OMIM:610954	TCF4	6925	HP:0000431	Wide nasal bridge
OMIM:610954	TCF4	6925	HP:0100543	Cognitive impairment
OMIM:610954	TCF4	6925	HP:0001344	Absent speech
OMIM:610954	TCF4	6925	HP:0000954	Single transverse palmar crease
OMIM:610954	TCF4	6925	HP:0000154	Wide mouth
OMIM:610954	TCF4	6925	HP:0000179	Thick lower lip vermilion
OMIM:610954	TCF4	6925	HP:0000486	Strabismus
OMIM:610954	TCF4	6925	HP:0000252	Microcephaly
OMIM:610954	TCF4	6925	HP:0000341	Narrow forehead
OMIM:610954	TCF4	6925	HP:0000490	Deeply set eye
OMIM:610954	TCF4	6925	HP:0001053	Hypopigmented skin patches
OMIM:610954	TCF4	6925	HP:0000687	Widely spaced teeth
OMIM:610954	TCF4	6925	HP:0001182	Tapered finger
OMIM:610954	TCF4	6925	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610954	TCF4	6925	HP:0002104	Apnea
OMIM:610954	TCF4	6925	HP:0008736	Hypoplasia of penis
OMIM:610954	TCF4	6925	HP:0000293	Full cheeks
OMIM:610954	TCF4	6925	HP:0002019	Constipation
OMIM:610954	TCF4	6925	HP:0001252	Muscular hypotonia
OMIM:610954	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:610954	TCF4	6925	HP:0000545	Myopia
OMIM:610954	TCF4	6925	HP:0002066	Gait ataxia
OMIM:610954	TCF4	6925	HP:0000582	Upslanted palpebral fissure
OMIM:610954	TCF4	6925	HP:0000174	Abnormality of the palate
OMIM:610954	TCF4	6925	HP:0000280	Coarse facial features
OMIM:610954	TCF4	6925	HP:0000718	Aggressive behavior
OMIM:610954	TCF4	6925	HP:0010864	Intellectual disability, severe
OMIM:610954	TCF4	6925	HP:0001763	Pes planus
OMIM:610954	TCF4	6925	HP:0001250	Seizures
OMIM:610954	TCF4	6925	HP:0000194	Open mouth
OMIM:610954	TCF4	6925	HP:0000322	Short philtrum
OMIM:610954	TCF4	6925	HP:0002311	Incoordination
OMIM:610954	TCF4	6925	HP:0001298	Encephalopathy
OMIM:610954	TCF4	6925	HP:0000028	Cryptorchidism
OMIM:610954	TCF4	6925	HP:0030084	Clinodactyly
OMIM:610954	TCF4	6925	HP:0001270	Motor delay
OMIM:610954	TCF4	6925	HP:0002020	Gastroesophageal reflux
OMIM:610954	TCF4	6925	HP:0002167	Neurological speech impairment
OMIM:610954	TCF4	6925	HP:0006887	Intellectual disability, progressive
OMIM:610954	TCF4	6925	HP:0000483	Astigmatism
OMIM:610954	TCF4	6925	HP:0000463	Anteverted nares
OMIM:610954	TCF4	6925	HP:0001217	Clubbing
OMIM:610954	TCF4	6925	HP:0000164	Abnormality of the teeth
OMIM:610954	TCF4	6925	HP:0000054	Micropenis
OMIM:610954	TCF4	6925	HP:0001786	Narrow foot
OMIM:610954	TCF4	6925	HP:0000470	Short neck
OMIM:610954	TCF4	6925	HP:0000378	Cupped ear
OMIM:610954	TCF4	6925	HP:0000391	Thickened helices
OMIM:205100	SPG11	80208	HP:0001332	Dystonia
OMIM:205100	SPG11	80208	HP:0002193	Pseudobulbar behavioral symptoms
OMIM:205100	SPG11	80208	HP:0002061	Lower limb spasticity
OMIM:205100	SPG11	80208	HP:0009130	Hand muscle atrophy
OMIM:205100	SPG11	80208	HP:0003487	Babinski sign
OMIM:205100	SPG11	80208	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205100	SPG11	80208	HP:0000007	Autosomal recessive inheritance
OMIM:205100	SPG11	80208	HP:0001347	Hyperreflexia
OMIM:205100	SPG11	80208	HP:0006986	Upper limb spasticity
OMIM:205100	SPG11	80208	HP:0000183	Difficulty in tongue movements
OMIM:205100	SPG11	80208	HP:0002464	Spastic dysarthria
OMIM:205100	SPG11	80208	HP:0002366	Abnormal lower motor neuron morphology
OMIM:205100	SPG11	80208	HP:0003693	Distal amyotrophy
OMIM:205100	SPG11	80208	HP:0002307	Drooling
OMIM:205100	SPG11	80208	HP:0002015	Dysphagia
OMIM:205100	SPG11	80208	HP:0002491	Spasticity of facial muscles
OMIM:205100	SPG11	80208	HP:0001285	Spastic tetraparesis
OMIM:205100	SPG11	80208	HP:0003444	EMG: chronic denervation signs
OMIM:205100	SPG11	80208	HP:0002127	Abnormal upper motor neuron morphology
OMIM:205100	SPG11	80208	HP:0002425	Anarthria
OMIM:205100	SPG11	80208	HP:0002501	Spasticity of pharyngeal muscles
OMIM:205100	SPG11	80208	HP:0002064	Spastic gait
OMIM:205100	SPG11	80208	HP:0003677	Slow progression
OMIM:205100	SIGMAR1	10280	HP:0001332	Dystonia
OMIM:205100	SIGMAR1	10280	HP:0002193	Pseudobulbar behavioral symptoms
OMIM:205100	SIGMAR1	10280	HP:0002061	Lower limb spasticity
OMIM:205100	SIGMAR1	10280	HP:0009130	Hand muscle atrophy
OMIM:205100	SIGMAR1	10280	HP:0003487	Babinski sign
OMIM:205100	SIGMAR1	10280	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205100	SIGMAR1	10280	HP:0000007	Autosomal recessive inheritance
OMIM:205100	SIGMAR1	10280	HP:0001347	Hyperreflexia
OMIM:205100	SIGMAR1	10280	HP:0006986	Upper limb spasticity
OMIM:205100	SIGMAR1	10280	HP:0000183	Difficulty in tongue movements
OMIM:205100	SIGMAR1	10280	HP:0002464	Spastic dysarthria
OMIM:205100	SIGMAR1	10280	HP:0002366	Abnormal lower motor neuron morphology
OMIM:205100	SIGMAR1	10280	HP:0003693	Distal amyotrophy
OMIM:205100	SIGMAR1	10280	HP:0002307	Drooling
OMIM:205100	SIGMAR1	10280	HP:0002015	Dysphagia
OMIM:205100	SIGMAR1	10280	HP:0002491	Spasticity of facial muscles
OMIM:205100	SIGMAR1	10280	HP:0001285	Spastic tetraparesis
OMIM:205100	SIGMAR1	10280	HP:0003444	EMG: chronic denervation signs
OMIM:205100	SIGMAR1	10280	HP:0002127	Abnormal upper motor neuron morphology
OMIM:205100	SIGMAR1	10280	HP:0002425	Anarthria
OMIM:205100	SIGMAR1	10280	HP:0002501	Spasticity of pharyngeal muscles
OMIM:205100	SIGMAR1	10280	HP:0002064	Spastic gait
OMIM:205100	SIGMAR1	10280	HP:0003677	Slow progression
OMIM:205100	FUS	2521	HP:0001332	Dystonia
OMIM:205100	FUS	2521	HP:0002193	Pseudobulbar behavioral symptoms
OMIM:205100	FUS	2521	HP:0002061	Lower limb spasticity
OMIM:205100	FUS	2521	HP:0009130	Hand muscle atrophy
OMIM:205100	FUS	2521	HP:0003487	Babinski sign
OMIM:205100	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205100	FUS	2521	HP:0000007	Autosomal recessive inheritance
OMIM:205100	FUS	2521	HP:0001347	Hyperreflexia
OMIM:205100	FUS	2521	HP:0006986	Upper limb spasticity
OMIM:205100	FUS	2521	HP:0000183	Difficulty in tongue movements
OMIM:205100	FUS	2521	HP:0002464	Spastic dysarthria
OMIM:205100	FUS	2521	HP:0002366	Abnormal lower motor neuron morphology
OMIM:205100	FUS	2521	HP:0003693	Distal amyotrophy
OMIM:205100	FUS	2521	HP:0002307	Drooling
OMIM:205100	FUS	2521	HP:0002015	Dysphagia
OMIM:205100	FUS	2521	HP:0002491	Spasticity of facial muscles
OMIM:205100	FUS	2521	HP:0001285	Spastic tetraparesis
OMIM:205100	FUS	2521	HP:0003444	EMG: chronic denervation signs
OMIM:205100	FUS	2521	HP:0002127	Abnormal upper motor neuron morphology
OMIM:205100	FUS	2521	HP:0002425	Anarthria
OMIM:205100	FUS	2521	HP:0002501	Spasticity of pharyngeal muscles
OMIM:205100	FUS	2521	HP:0002064	Spastic gait
OMIM:205100	FUS	2521	HP:0003677	Slow progression
OMIM:205100	ALS2	57679	HP:0001332	Dystonia
OMIM:205100	ALS2	57679	HP:0002193	Pseudobulbar behavioral symptoms
OMIM:205100	ALS2	57679	HP:0002061	Lower limb spasticity
OMIM:205100	ALS2	57679	HP:0009130	Hand muscle atrophy
OMIM:205100	ALS2	57679	HP:0003487	Babinski sign
OMIM:205100	ALS2	57679	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205100	ALS2	57679	HP:0000007	Autosomal recessive inheritance
OMIM:205100	ALS2	57679	HP:0001347	Hyperreflexia
OMIM:205100	ALS2	57679	HP:0006986	Upper limb spasticity
OMIM:205100	ALS2	57679	HP:0000183	Difficulty in tongue movements
OMIM:205100	ALS2	57679	HP:0002464	Spastic dysarthria
OMIM:205100	ALS2	57679	HP:0002366	Abnormal lower motor neuron morphology
OMIM:205100	ALS2	57679	HP:0003693	Distal amyotrophy
OMIM:205100	ALS2	57679	HP:0002307	Drooling
OMIM:205100	ALS2	57679	HP:0002015	Dysphagia
OMIM:205100	ALS2	57679	HP:0002491	Spasticity of facial muscles
OMIM:205100	ALS2	57679	HP:0001285	Spastic tetraparesis
OMIM:205100	ALS2	57679	HP:0003444	EMG: chronic denervation signs
OMIM:205100	ALS2	57679	HP:0002127	Abnormal upper motor neuron morphology
OMIM:205100	ALS2	57679	HP:0002425	Anarthria
OMIM:205100	ALS2	57679	HP:0002501	Spasticity of pharyngeal muscles
OMIM:205100	ALS2	57679	HP:0002064	Spastic gait
OMIM:205100	ALS2	57679	HP:0003677	Slow progression
OMIM:616282	CPT1C	126129	HP:0003202	Skeletal muscle atrophy
OMIM:616282	CPT1C	126129	HP:0002355	Difficulty walking
OMIM:616282	CPT1C	126129	HP:0001258	Spastic paraplegia
OMIM:616282	CPT1C	126129	HP:0001760	Abnormality of the foot
OMIM:616282	CPT1C	126129	HP:0003701	Proximal muscle weakness
OMIM:616282	CPT1C	126129	HP:0003487	Babinski sign
OMIM:616282	CPT1C	126129	HP:0001347	Hyperreflexia
OMIM:616562	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:616562	RLBP1	6017	HP:0001115	Posterior polar cataract
OMIM:616562	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:616562	RLBP1	6017	HP:0000580	Pigmentary retinopathy
OMIM:616562	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:616562	SPATA7	55812	HP:0001115	Posterior polar cataract
OMIM:616562	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:616562	SPATA7	55812	HP:0000580	Pigmentary retinopathy
OMIM:616562	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:616562	ARL6	84100	HP:0001115	Posterior polar cataract
OMIM:616562	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:616562	ARL6	84100	HP:0000580	Pigmentary retinopathy
OMIM:616562	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:616562	CERKL	375298	HP:0001115	Posterior polar cataract
OMIM:616562	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:616562	CERKL	375298	HP:0000580	Pigmentary retinopathy
OMIM:616562	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:616562	PRPF31	26121	HP:0001115	Posterior polar cataract
OMIM:616562	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:616562	PRPF31	26121	HP:0000580	Pigmentary retinopathy
OMIM:616562	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:616562	TTC8	123016	HP:0001115	Posterior polar cataract
OMIM:616562	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:616562	TTC8	123016	HP:0000580	Pigmentary retinopathy
OMIM:616562	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:616562	PROM1	8842	HP:0001115	Posterior polar cataract
OMIM:616562	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:616562	PROM1	8842	HP:0000580	Pigmentary retinopathy
OMIM:616562	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:616562	LRAT	9227	HP:0001115	Posterior polar cataract
OMIM:616562	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:616562	LRAT	9227	HP:0000580	Pigmentary retinopathy
OMIM:616562	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:616562	IFT140	9742	HP:0001115	Posterior polar cataract
OMIM:616562	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:616562	IFT140	9742	HP:0000580	Pigmentary retinopathy
OMIM:616562	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:616562	BEST1	7439	HP:0001115	Posterior polar cataract
OMIM:616562	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:616562	BEST1	7439	HP:0000580	Pigmentary retinopathy
OMIM:616562	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:616562	NEK2	4751	HP:0001115	Posterior polar cataract
OMIM:616562	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:616562	NEK2	4751	HP:0000580	Pigmentary retinopathy
OMIM:616562	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:616562	ARL2BP	23568	HP:0001115	Posterior polar cataract
OMIM:616562	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:616562	ARL2BP	23568	HP:0000580	Pigmentary retinopathy
OMIM:616562	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:616562	NR2E3	10002	HP:0001115	Posterior polar cataract
OMIM:616562	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:616562	NR2E3	10002	HP:0000580	Pigmentary retinopathy
OMIM:616562	EYS	346007	HP:0000543	Optic disc pallor
OMIM:616562	EYS	346007	HP:0001115	Posterior polar cataract
OMIM:616562	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:616562	EYS	346007	HP:0000580	Pigmentary retinopathy
OMIM:616562	MAK	4117	HP:0000543	Optic disc pallor
OMIM:616562	MAK	4117	HP:0001115	Posterior polar cataract
OMIM:616562	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:616562	MAK	4117	HP:0000580	Pigmentary retinopathy
OMIM:616562	SAG	6295	HP:0000543	Optic disc pallor
OMIM:616562	SAG	6295	HP:0001115	Posterior polar cataract
OMIM:616562	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:616562	SAG	6295	HP:0000580	Pigmentary retinopathy
OMIM:616562	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:616562	ABCA4	24	HP:0001115	Posterior polar cataract
OMIM:616562	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:616562	ABCA4	24	HP:0000580	Pigmentary retinopathy
OMIM:616562	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:616562	PDE6A	5145	HP:0001115	Posterior polar cataract
OMIM:616562	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:616562	PDE6A	5145	HP:0000580	Pigmentary retinopathy
OMIM:616562	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:616562	PDE6G	5148	HP:0001115	Posterior polar cataract
OMIM:616562	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:616562	PDE6G	5148	HP:0000580	Pigmentary retinopathy
OMIM:616562	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:616562	IMPDH1	3614	HP:0001115	Posterior polar cataract
OMIM:616562	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:616562	IMPDH1	3614	HP:0000580	Pigmentary retinopathy
OMIM:616562	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:616562	OFD1	8481	HP:0001115	Posterior polar cataract
OMIM:616562	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:616562	OFD1	8481	HP:0000580	Pigmentary retinopathy
OMIM:616562	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:616562	GUCA1B	2979	HP:0001115	Posterior polar cataract
OMIM:616562	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:616562	GUCA1B	2979	HP:0000580	Pigmentary retinopathy
OMIM:616562	NRL	4901	HP:0000543	Optic disc pallor
OMIM:616562	NRL	4901	HP:0001115	Posterior polar cataract
OMIM:616562	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:616562	NRL	4901	HP:0000580	Pigmentary retinopathy
OMIM:616562	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:616562	PDE6B	5158	HP:0001115	Posterior polar cataract
OMIM:616562	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:616562	PDE6B	5158	HP:0000580	Pigmentary retinopathy
OMIM:616562	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:616562	KLHL7	55975	HP:0001115	Posterior polar cataract
OMIM:616562	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:616562	KLHL7	55975	HP:0000580	Pigmentary retinopathy
OMIM:616562	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:616562	PRPF4	9128	HP:0001115	Posterior polar cataract
OMIM:616562	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:616562	PRPF4	9128	HP:0000580	Pigmentary retinopathy
OMIM:616562	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:616562	PRPF3	9129	HP:0001115	Posterior polar cataract
OMIM:616562	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:616562	PRPF3	9129	HP:0000580	Pigmentary retinopathy
OMIM:616562	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:616562	FAM161A	84140	HP:0001115	Posterior polar cataract
OMIM:616562	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:616562	FAM161A	84140	HP:0000580	Pigmentary retinopathy
OMIM:616562	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:616562	IFT172	26160	HP:0001115	Posterior polar cataract
OMIM:616562	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:616562	IFT172	26160	HP:0000580	Pigmentary retinopathy
OMIM:616562	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:616562	KIZ	55857	HP:0001115	Posterior polar cataract
OMIM:616562	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:616562	KIZ	55857	HP:0000580	Pigmentary retinopathy
OMIM:616562	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:616562	CDHR1	92211	HP:0001115	Posterior polar cataract
OMIM:616562	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:616562	CDHR1	92211	HP:0000580	Pigmentary retinopathy
OMIM:616562	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:616562	ZNF408	79797	HP:0001115	Posterior polar cataract
OMIM:616562	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:616562	ZNF408	79797	HP:0000580	Pigmentary retinopathy
OMIM:616562	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:616562	RBP3	5949	HP:0001115	Posterior polar cataract
OMIM:616562	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:616562	RBP3	5949	HP:0000580	Pigmentary retinopathy
OMIM:616562	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:616562	HGSNAT	138050	HP:0001115	Posterior polar cataract
OMIM:616562	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:616562	HGSNAT	138050	HP:0000580	Pigmentary retinopathy
OMIM:616562	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:616562	FSCN2	25794	HP:0001115	Posterior polar cataract
OMIM:616562	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:616562	FSCN2	25794	HP:0000580	Pigmentary retinopathy
OMIM:616562	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:616562	PRCD	768206	HP:0001115	Posterior polar cataract
OMIM:616562	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:616562	PRCD	768206	HP:0000580	Pigmentary retinopathy
OMIM:616562	BBS2	583	HP:0000543	Optic disc pallor
OMIM:616562	BBS2	583	HP:0001115	Posterior polar cataract
OMIM:616562	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:616562	BBS2	583	HP:0000580	Pigmentary retinopathy
OMIM:616562	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:616562	RDH12	145226	HP:0001115	Posterior polar cataract
OMIM:616562	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:616562	RDH12	145226	HP:0000580	Pigmentary retinopathy
OMIM:616562	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:616562	PRPH2	5961	HP:0001115	Posterior polar cataract
OMIM:616562	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:616562	PRPH2	5961	HP:0000580	Pigmentary retinopathy
OMIM:616562	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:616562	DHDDS	79947	HP:0001115	Posterior polar cataract
OMIM:616562	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:616562	DHDDS	79947	HP:0000580	Pigmentary retinopathy
OMIM:616562	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:616562	ROM1	6094	HP:0001115	Posterior polar cataract
OMIM:616562	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:616562	ROM1	6094	HP:0000580	Pigmentary retinopathy
OMIM:616562	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:616562	C2ORF71	388939	HP:0001115	Posterior polar cataract
OMIM:616562	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:616562	C2ORF71	388939	HP:0000580	Pigmentary retinopathy
OMIM:616562	RP9	6100	HP:0000543	Optic disc pallor
OMIM:616562	RP9	6100	HP:0001115	Posterior polar cataract
OMIM:616562	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:616562	RP9	6100	HP:0000580	Pigmentary retinopathy
OMIM:616562	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:616562	PRPF6	24148	HP:0001115	Posterior polar cataract
OMIM:616562	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:616562	PRPF6	24148	HP:0000580	Pigmentary retinopathy
OMIM:616562	RP1	6101	HP:0000543	Optic disc pallor
OMIM:616562	RP1	6101	HP:0001115	Posterior polar cataract
OMIM:616562	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:616562	RP1	6101	HP:0000580	Pigmentary retinopathy
OMIM:616562	RP2	6102	HP:0000543	Optic disc pallor
OMIM:616562	RP2	6102	HP:0001115	Posterior polar cataract
OMIM:616562	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:616562	RP2	6102	HP:0000580	Pigmentary retinopathy
OMIM:616562	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:616562	RPGR	6103	HP:0001115	Posterior polar cataract
OMIM:616562	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:616562	RPGR	6103	HP:0000580	Pigmentary retinopathy
OMIM:616562	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:616562	SEMA4A	64218	HP:0001115	Posterior polar cataract
OMIM:616562	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:616562	SEMA4A	64218	HP:0000580	Pigmentary retinopathy
OMIM:616562	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:616562	C8ORF37	157657	HP:0001115	Posterior polar cataract
OMIM:616562	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:616562	C8ORF37	157657	HP:0000580	Pigmentary retinopathy
OMIM:616562	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:616562	IDH3B	3420	HP:0001115	Posterior polar cataract
OMIM:616562	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:616562	IDH3B	3420	HP:0000580	Pigmentary retinopathy
OMIM:616562	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:616562	MERTK	10461	HP:0001115	Posterior polar cataract
OMIM:616562	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:616562	MERTK	10461	HP:0000580	Pigmentary retinopathy
OMIM:616562	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:616562	PRPF8	10594	HP:0001115	Posterior polar cataract
OMIM:616562	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:616562	PRPF8	10594	HP:0000580	Pigmentary retinopathy
OMIM:616562	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:616562	TOPORS	10210	HP:0001115	Posterior polar cataract
OMIM:616562	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:616562	TOPORS	10210	HP:0000580	Pigmentary retinopathy
OMIM:616562	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:616562	USH2A	7399	HP:0001115	Posterior polar cataract
OMIM:616562	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:616562	USH2A	7399	HP:0000580	Pigmentary retinopathy
OMIM:616562	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:616562	RPE65	6121	HP:0001115	Posterior polar cataract
OMIM:616562	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:616562	RPE65	6121	HP:0000580	Pigmentary retinopathy
OMIM:616562	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:616562	CLRN1	7401	HP:0001115	Posterior polar cataract
OMIM:616562	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:616562	CLRN1	7401	HP:0000580	Pigmentary retinopathy
OMIM:616562	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:616562	CNGB1	1258	HP:0001115	Posterior polar cataract
OMIM:616562	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:616562	CNGB1	1258	HP:0000580	Pigmentary retinopathy
OMIM:616562	RGR	5995	HP:0000543	Optic disc pallor
OMIM:616562	RGR	5995	HP:0001115	Posterior polar cataract
OMIM:616562	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:616562	RGR	5995	HP:0000580	Pigmentary retinopathy
OMIM:616562	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:616562	CNGA1	1259	HP:0001115	Posterior polar cataract
OMIM:616562	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:616562	CNGA1	1259	HP:0000580	Pigmentary retinopathy
OMIM:616562	TUB	7275	HP:0000543	Optic disc pallor
OMIM:616562	TUB	7275	HP:0001115	Posterior polar cataract
OMIM:616562	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:616562	TUB	7275	HP:0000580	Pigmentary retinopathy
OMIM:616562	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:616562	SNRNP200	23020	HP:0001115	Posterior polar cataract
OMIM:616562	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:616562	SNRNP200	23020	HP:0000580	Pigmentary retinopathy
OMIM:616562	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:616562	SLC7A14	57709	HP:0001115	Posterior polar cataract
OMIM:616562	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:616562	SLC7A14	57709	HP:0000580	Pigmentary retinopathy
OMIM:616562	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:616562	TULP1	7287	HP:0001115	Posterior polar cataract
OMIM:616562	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:616562	TULP1	7287	HP:0000580	Pigmentary retinopathy
OMIM:616562	RHO	6010	HP:0000543	Optic disc pallor
OMIM:616562	RHO	6010	HP:0001115	Posterior polar cataract
OMIM:616562	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:616562	RHO	6010	HP:0000580	Pigmentary retinopathy
OMIM:616562	CA4	762	HP:0000543	Optic disc pallor
OMIM:616562	CA4	762	HP:0001115	Posterior polar cataract
OMIM:616562	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:616562	CA4	762	HP:0000580	Pigmentary retinopathy
OMIM:616562	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:616562	CRB1	23418	HP:0001115	Posterior polar cataract
OMIM:616562	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:616562	CRB1	23418	HP:0000580	Pigmentary retinopathy
OMIM:616562	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:616562	IMPG2	50939	HP:0001115	Posterior polar cataract
OMIM:616562	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:616562	IMPG2	50939	HP:0000580	Pigmentary retinopathy
OMIM:616562	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:616562	ZNF513	130557	HP:0001115	Posterior polar cataract
OMIM:616562	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:616562	ZNF513	130557	HP:0000580	Pigmentary retinopathy
OMIM:616562	CRX	1406	HP:0000543	Optic disc pallor
OMIM:616562	CRX	1406	HP:0001115	Posterior polar cataract
OMIM:616562	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:616562	CRX	1406	HP:0000580	Pigmentary retinopathy
OMIM:614868	STK4	6789	HP:0002841	Recurrent fungal infections
OMIM:614868	STK4	6789	HP:0200043	Verrucae
OMIM:614868	STK4	6789	HP:0001875	Neutropenia
OMIM:614868	STK4	6789	HP:0000007	Autosomal recessive inheritance
OMIM:614868	STK4	6789	HP:0004429	Recurrent viral infections
OMIM:614868	STK4	6789	HP:0001631	Atria septal defect
OMIM:614868	STK4	6789	HP:0002718	Recurrent bacterial infections
OMIM:614868	STK4	6789	HP:0002721	Immunodeficiency
OMIM:272200	SUMF1	285362	HP:0001272	Cerebellar atrophy
OMIM:272200	SUMF1	285362	HP:0000574	Thick eyebrow
OMIM:272200	SUMF1	285362	HP:0001319	Neonatal hypotonia
OMIM:272200	SUMF1	285362	HP:0001376	Limitation of joint mobility
OMIM:272200	SUMF1	285362	HP:0000407	Sensorineural hearing impairment
OMIM:272200	SUMF1	285362	HP:0002059	Cerebral atrophy
OMIM:272200	SUMF1	285362	HP:0001263	Global developmental delay
OMIM:272200	SUMF1	285362	HP:0000463	Anteverted nares
OMIM:272200	SUMF1	285362	HP:0002922	Increased CSF protein
OMIM:272200	SUMF1	285362	HP:0000288	Abnormality of the philtrum
OMIM:272200	SUMF1	285362	HP:0001251	Ataxia
OMIM:272200	SUMF1	285362	HP:0002376	Developmental regression
OMIM:272200	SUMF1	285362	HP:0100539	Periorbital edema
OMIM:272200	SUMF1	285362	HP:0000365	Hearing impairment
OMIM:272200	SUMF1	285362	HP:0002208	Coarse hair
OMIM:272200	SUMF1	285362	HP:0004322	Short stature
OMIM:272200	SUMF1	285362	HP:0008155	Mucopolysacchariduria
OMIM:272200	SUMF1	285362	HP:0000762	Decreased nerve conduction velocity
OMIM:272200	SUMF1	285362	HP:0011220	Prominent forehead
OMIM:272200	SUMF1	285362	HP:0007957	Corneal opacity
OMIM:272200	SUMF1	285362	HP:0011304	Broad thumb
OMIM:272200	SUMF1	285362	HP:0100543	Cognitive impairment
OMIM:272200	SUMF1	285362	HP:0011096	Peripheral demyelination
OMIM:272200	SUMF1	285362	HP:0001744	Splenomegaly
OMIM:272200	SUMF1	285362	HP:0002119	Ventriculomegaly
OMIM:272200	SUMF1	285362	HP:0002240	Hepatomegaly
OMIM:272200	SUMF1	285362	HP:0007305	CNS demyelination
OMIM:272200	SUMF1	285362	HP:0000238	Hydrocephalus
OMIM:272200	SUMF1	285362	HP:0005280	Depressed nasal bridge
OMIM:272200	SUMF1	285362	HP:0000256	Macrocephaly
OMIM:272200	SUMF1	285362	HP:0000648	Optic atrophy
OMIM:272200	SUMF1	285362	HP:0000252	Microcephaly
OMIM:272200	SUMF1	285362	HP:0007759	Opacification of the corneal stroma
OMIM:272200	SUMF1	285362	HP:0008064	Ichthyosis
OMIM:272200	SUMF1	285362	HP:0001249	Intellectual disability
OMIM:272200	SUMF1	285362	HP:0000280	Coarse facial features
OMIM:272200	SUMF1	285362	HP:0001841	Preaxial foot polydactyly
OMIM:272200	SUMF1	285362	HP:0000546	Retinal degeneration
OMIM:272200	SUMF1	285362	HP:0002518	Abnormality of the periventricular white matter
OMIM:272200	SUMF1	285362	HP:0000943	Dysostosis multiplex
OMIM:272200	SUMF1	285362	HP:0000505	Visual impairment
OMIM:272200	SUMF1	285362	HP:0001257	Spasticity
OMIM:272200	SUMF1	285362	HP:0007703	Abnormality of retinal pigmentation
OMIM:272200	SUMF1	285362	HP:0012368	Flat face
OMIM:272200	SUMF1	285362	HP:0001250	Seizures
OMIM:272200	SUMF1	285362	HP:0000518	Cataract
OMIM:272200	SUMF1	285362	HP:0009602	Abnormality of thumb phalanx
OMIM:272200	SUMF1	285362	HP:0000007	Autosomal recessive inheritance
OMIM:272200	SUMF1	285362	HP:0010055	Broad hallux
OMIM:242500	ABCA12	26154	HP:0000457	Depressed nasal ridge
OMIM:242500	ABCA12	26154	HP:0001944	Dehydration
OMIM:242500	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:242500	ABCA12	26154	HP:0000232	Everted lower lip vermilion
OMIM:242500	ABCA12	26154	HP:0000153	Abnormality of the mouth
OMIM:242500	ABCA12	26154	HP:0000518	Cataract
OMIM:242500	ABCA12	26154	HP:0001829	Foot polydactyly
OMIM:242500	ABCA12	26154	HP:0001645	Sudden cardiac death
OMIM:242500	ABCA12	26154	HP:0002205	Recurrent respiratory infections
OMIM:242500	ABCA12	26154	HP:0000364	Hearing abnormality
OMIM:242500	ABCA12	26154	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:242500	ABCA12	26154	HP:0001622	Premature birth
OMIM:242500	ABCA12	26154	HP:0002063	Rigidity
OMIM:242500	ABCA12	26154	HP:0100716	Self-injurious behavior
OMIM:242500	ABCA12	26154	HP:0000492	Abnormality of the eyelid
OMIM:242500	ABCA12	26154	HP:0000520	Proptosis
OMIM:242500	ABCA12	26154	HP:0009381	Short finger
OMIM:242500	ABCA12	26154	HP:0001161	Hand polydactyly
OMIM:242500	ABCA12	26154	HP:0002093	Respiratory insufficiency
OMIM:242500	ABCA12	26154	HP:0001376	Limitation of joint mobility
OMIM:242500	ABCA12	26154	HP:0000962	Hyperkeratosis
OMIM:613174	NIPBL	25836	HP:0000577	Exotropia
OMIM:613174	NIPBL	25836	HP:0001274	Agenesis of corpus callosum
OMIM:613174	NIPBL	25836	HP:0000337	Broad forehead
OMIM:613174	NIPBL	25836	HP:0000722	Obsessive-compulsive behavior
OMIM:613174	NIPBL	25836	HP:0012745	Short palpebral fissure
OMIM:613174	NIPBL	25836	HP:0000322	Short philtrum
OMIM:613174	NIPBL	25836	HP:0001263	Global developmental delay
OMIM:613174	NIPBL	25836	HP:0000581	Blepharophimosis
OMIM:613174	NIPBL	25836	HP:0002360	Sleep disturbance
OMIM:613174	NIPBL	25836	HP:0000248	Brachycephaly
OMIM:613174	NIPBL	25836	HP:0002650	Scoliosis
OMIM:613174	NIPBL	25836	HP:0000218	High palate
OMIM:613174	NIPBL	25836	HP:0000601	Hypotelorism
OMIM:613174	NIPBL	25836	HP:0001833	Long foot
OMIM:613174	NIPBL	25836	HP:0003745	Sporadic
OMIM:613174	NIPBL	25836	HP:0000316	Hypertelorism
OMIM:613174	NIPBL	25836	HP:0008070	Sparse hair
OMIM:613174	NIPBL	25836	HP:0000341	Narrow forehead
OMIM:613174	NIPBL	25836	HP:0000369	Low-set ears
OMIM:613174	NIPBL	25836	HP:0000262	Turricephaly
OMIM:613174	NIPBL	25836	HP:0001252	Muscular hypotonia
OMIM:613174	NIPBL	25836	HP:0000256	Macrocephaly
OMIM:613174	NIPBL	25836	HP:0000483	Astigmatism
OMIM:613174	NIPBL	25836	HP:0000733	Stereotypic behavior
OMIM:613174	NIPBL	25836	HP:0000431	Wide nasal bridge
OMIM:613174	NIPBL	25836	HP:0001518	Small for gestational age
OMIM:613174	NIPBL	25836	HP:0001363	Craniosynostosis
OMIM:613174	NIPBL	25836	HP:0000414	Bulbous nose
OMIM:613174	NIPBL	25836	HP:0000520	Proptosis
OMIM:613174	NIPBL	25836	HP:0001176	Large hands
OMIM:613174	NIPBL	25836	HP:0002162	Low posterior hairline
OMIM:613174	NIPBL	25836	HP:0000286	Epicanthus
OMIM:613174	NIPBL	25836	HP:0001249	Intellectual disability
OMIM:613174	NIPBL	25836	HP:0000582	Upslanted palpebral fissure
OMIM:613174	NIPBL	25836	HP:0001250	Seizures
OMIM:608565	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:608565	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:608565	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:608565	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:608565	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:608565	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:608565	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:608565	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:608565	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:608565	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:608565	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:608565	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:608565	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:608565	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:608565	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:608565	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:608565	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:608565	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:608565	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:608565	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:608565	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:608565	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:608565	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:608565	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:608565	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:608565	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:608565	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:608565	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:608565	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:608565	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:608565	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:608565	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:608565	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:608565	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:608565	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:608565	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:608565	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:608565	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:608565	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:608565	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:608565	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:608565	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:608565	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:608565	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:608565	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:608565	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:608565	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:608565	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:608565	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:608565	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:608565	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:608565	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:608565	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:608565	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:608565	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:608565	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:608565	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:608565	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:608565	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:608565	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:608565	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:608565	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:608565	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:608565	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:608565	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:608565	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:608565	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:608565	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:608565	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:608565	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:608565	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:608565	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:608565	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:608565	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:608565	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:608565	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:608565	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:608565	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:608565	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:608565	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:608565	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:608565	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:608565	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:608565	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:608565	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:608565	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:608565	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:608565	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:608565	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:608565	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:608565	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:608565	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:608565	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:608565	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:608565	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:608565	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:608565	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:608565	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:608565	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:608565	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:608565	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:608565	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:608565	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:608565	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:608565	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:608565	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:608565	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:608565	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:608565	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:608565	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:608565	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:608565	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:608565	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:608565	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:608565	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:608565	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:608565	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:608565	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:608565	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:608565	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:604387	NPHP3	27031	HP:0000083	Renal insufficiency
OMIM:604387	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:604387	NPHP3	27031	HP:0000090	Nephronophthisis
OMIM:604387	NPHP3	27031	HP:0001395	Hepatic fibrosis
OMIM:604387	NPHP3	27031	HP:0000805	Enuresis
OMIM:203800	ALMS1	7840	HP:0001596	Alopecia
OMIM:203800	ALMS1	7840	HP:0001635	Congestive heart failure
OMIM:203800	ALMS1	7840	HP:0000035	Abnormality of the testis
OMIM:203800	ALMS1	7840	HP:0000532	Chorioretinal abnormality
OMIM:203800	ALMS1	7840	HP:0000956	Acanthosis nigricans
OMIM:203800	ALMS1	7840	HP:0000821	Hypothyroidism
OMIM:203800	ALMS1	7840	HP:0000639	Nystagmus
OMIM:203800	ALMS1	7840	HP:0000618	Blindness
OMIM:203800	ALMS1	7840	HP:0005978	Type II diabetes mellitus
OMIM:203800	ALMS1	7840	HP:0002650	Scoliosis
OMIM:203800	ALMS1	7840	HP:0000091	Abnormality of the renal tubule
OMIM:203800	ALMS1	7840	HP:0000855	Insulin resistance
OMIM:203800	ALMS1	7840	HP:0000858	Menstrual irregularities
OMIM:203800	ALMS1	7840	HP:0000388	Otitis media
OMIM:203800	ALMS1	7840	HP:0000842	Hyperinsulinemia
OMIM:203800	ALMS1	7840	HP:0000998	Hypertrichosis
OMIM:203800	ALMS1	7840	HP:0001644	Dilated cardiomyopathy
OMIM:203800	ALMS1	7840	HP:0000717	Autism
OMIM:203800	ALMS1	7840	HP:0003233	Hypoalphalipoproteinemia
OMIM:203800	ALMS1	7840	HP:0001394	Cirrhosis
OMIM:203800	ALMS1	7840	HP:0004322	Short stature
OMIM:203800	ALMS1	7840	HP:0002206	Pulmonary fibrosis
OMIM:203800	ALMS1	7840	HP:0001763	Pes planus
OMIM:203800	ALMS1	7840	HP:0100543	Cognitive impairment
OMIM:203800	ALMS1	7840	HP:0000824	Growth hormone deficiency
OMIM:203800	ALMS1	7840	HP:0002099	Asthma
OMIM:203800	ALMS1	7840	HP:0000164	Abnormality of the teeth
OMIM:203800	ALMS1	7840	HP:0000407	Sensorineural hearing impairment
OMIM:203800	ALMS1	7840	HP:0002093	Respiratory insufficiency
OMIM:203800	ALMS1	7840	HP:0001397	Hepatic steatosis
OMIM:203800	ALMS1	7840	HP:0001639	Hypertrophic cardiomyopathy
OMIM:203800	ALMS1	7840	HP:0000822	Hypertension
OMIM:203800	ALMS1	7840	HP:0000121	Nephrocalcinosis
OMIM:203800	ALMS1	7840	HP:0005616	Accelerated skeletal maturation
OMIM:203800	ALMS1	7840	HP:0001250	Seizures
OMIM:203800	ALMS1	7840	HP:0002808	Kyphosis
OMIM:203800	ALMS1	7840	HP:0000076	Vesicoureteral reflux
OMIM:203800	ALMS1	7840	HP:0006532	Recurrent pneumonia
OMIM:203800	ALMS1	7840	HP:0000613	Photophobia
OMIM:203800	ALMS1	7840	HP:0000826	Precocious puberty
OMIM:203800	ALMS1	7840	HP:0002205	Recurrent respiratory infections
OMIM:203800	ALMS1	7840	HP:0000083	Renal insufficiency
OMIM:203800	ALMS1	7840	HP:0000123	Nephritis
OMIM:203800	ALMS1	7840	HP:0000144	Decreased fertility
OMIM:203800	ALMS1	7840	HP:0001409	Portal hypertension
OMIM:203800	ALMS1	7840	HP:0000518	Cataract
OMIM:203800	ALMS1	7840	HP:0000722	Obsessive-compulsive behavior
OMIM:203800	ALMS1	7840	HP:0000580	Pigmentary retinopathy
OMIM:203800	ALMS1	7840	HP:0000523	Subcapsular cataract
OMIM:203800	ALMS1	7840	HP:0100817	Renovascular hypertension
OMIM:203800	ALMS1	7840	HP:0000490	Deeply set eye
OMIM:203800	ALMS1	7840	HP:0000505	Visual impairment
OMIM:203800	ALMS1	7840	HP:0000230	Gingivitis
OMIM:203800	ALMS1	7840	HP:0000548	Cone/cone-rod dystrophy
OMIM:203800	ALMS1	7840	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:203800	ALMS1	7840	HP:0000007	Autosomal recessive inheritance
OMIM:203800	ALMS1	7840	HP:0000408	Progressive sensorineural hearing impairment
OMIM:203800	ALMS1	7840	HP:0000815	Hypergonadotropic hypogonadism
OMIM:203800	ALMS1	7840	HP:0009124	Abnormality of adipose tissue
OMIM:203800	ALMS1	7840	HP:0000873	Diabetes insipidus
OMIM:203800	ALMS1	7840	HP:0000795	Abnormality of the urethra
OMIM:203800	ALMS1	7840	HP:0000055	Abnormality of female external genitalia
OMIM:203800	ALMS1	7840	HP:0001970	Tubulointerstitial nephritis
OMIM:203800	ALMS1	7840	HP:0000147	Polycystic ovaries
OMIM:203800	ALMS1	7840	HP:0001155	Abnormality of the hand
OMIM:203800	ALMS1	7840	HP:0001956	Truncal obesity
OMIM:203800	ALMS1	7840	HP:0001744	Splenomegaly
OMIM:203800	ALMS1	7840	HP:0002910	Elevated hepatic transaminases
OMIM:203800	ALMS1	7840	HP:0002240	Hepatomegaly
OMIM:203800	ALMS1	7840	HP:0002155	Hypertriglyceridemia
OMIM:203800	ALMS1	7840	HP:0002149	Hyperuricemia
OMIM:203800	ALMS1	7840	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:203800	ALMS1	7840	HP:0003119	Abnormality of lipid metabolism
OMIM:203800	ALMS1	7840	HP:0001263	Global developmental delay
OMIM:203800	ALMS1	7840	HP:0002621	Atherosclerosis
OMIM:203800	ALMS1	7840	HP:0000311	Round face
OMIM:611548	NOBOX	135935	HP:0000786	Primary amenorrhea
OMIM:611548	NOBOX	135935	HP:0000869	Secondary amenorrhea
OMIM:614852	ASPM	259266	HP:0000252	Microcephaly
OMIM:614852	ASPM	259266	HP:0000007	Autosomal recessive inheritance
OMIM:614852	ASPM	259266	HP:0000718	Aggressive behavior
OMIM:614852	ASPM	259266	HP:0009879	Cortical gyral simplification
OMIM:614852	MCPH1	79648	HP:0000252	Microcephaly
OMIM:614852	MCPH1	79648	HP:0000007	Autosomal recessive inheritance
OMIM:614852	MCPH1	79648	HP:0000718	Aggressive behavior
OMIM:614852	MCPH1	79648	HP:0009879	Cortical gyral simplification
OMIM:614852	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:614852	ANKLE2	23141	HP:0000007	Autosomal recessive inheritance
OMIM:614852	ANKLE2	23141	HP:0000718	Aggressive behavior
OMIM:614852	ANKLE2	23141	HP:0009879	Cortical gyral simplification
OMIM:614852	SASS6	163786	HP:0000252	Microcephaly
OMIM:614852	SASS6	163786	HP:0000007	Autosomal recessive inheritance
OMIM:614852	SASS6	163786	HP:0000718	Aggressive behavior
OMIM:614852	SASS6	163786	HP:0009879	Cortical gyral simplification
OMIM:614852	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:614852	CDK5RAP2	55755	HP:0000007	Autosomal recessive inheritance
OMIM:614852	CDK5RAP2	55755	HP:0000718	Aggressive behavior
OMIM:614852	CDK5RAP2	55755	HP:0009879	Cortical gyral simplification
OMIM:614852	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:614852	MFSD2A	84879	HP:0000007	Autosomal recessive inheritance
OMIM:614852	MFSD2A	84879	HP:0000718	Aggressive behavior
OMIM:614852	MFSD2A	84879	HP:0009879	Cortical gyral simplification
OMIM:614852	CEP152	22995	HP:0000252	Microcephaly
OMIM:614852	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:614852	CEP152	22995	HP:0000718	Aggressive behavior
OMIM:614852	CEP152	22995	HP:0009879	Cortical gyral simplification
OMIM:614852	WDR62	284403	HP:0000252	Microcephaly
OMIM:614852	WDR62	284403	HP:0000007	Autosomal recessive inheritance
OMIM:614852	WDR62	284403	HP:0000718	Aggressive behavior
OMIM:614852	WDR62	284403	HP:0009879	Cortical gyral simplification
OMIM:614852	PHC1	1911	HP:0000252	Microcephaly
OMIM:614852	PHC1	1911	HP:0000007	Autosomal recessive inheritance
OMIM:614852	PHC1	1911	HP:0000718	Aggressive behavior
OMIM:614852	PHC1	1911	HP:0009879	Cortical gyral simplification
OMIM:614852	CASC5	57082	HP:0000252	Microcephaly
OMIM:614852	CASC5	57082	HP:0000007	Autosomal recessive inheritance
OMIM:614852	CASC5	57082	HP:0000718	Aggressive behavior
OMIM:614852	CASC5	57082	HP:0009879	Cortical gyral simplification
OMIM:614852	CENPJ	55835	HP:0000252	Microcephaly
OMIM:614852	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:614852	CENPJ	55835	HP:0000718	Aggressive behavior
OMIM:614852	CENPJ	55835	HP:0009879	Cortical gyral simplification
OMIM:614852	STIL	6491	HP:0000252	Microcephaly
OMIM:614852	STIL	6491	HP:0000007	Autosomal recessive inheritance
OMIM:614852	STIL	6491	HP:0000718	Aggressive behavior
OMIM:614852	STIL	6491	HP:0009879	Cortical gyral simplification
OMIM:614852	CDK6	1021	HP:0000252	Microcephaly
OMIM:614852	CDK6	1021	HP:0000007	Autosomal recessive inheritance
OMIM:614852	CDK6	1021	HP:0000718	Aggressive behavior
OMIM:614852	CDK6	1021	HP:0009879	Cortical gyral simplification
OMIM:614852	CEP135	9662	HP:0000252	Microcephaly
OMIM:614852	CEP135	9662	HP:0000007	Autosomal recessive inheritance
OMIM:614852	CEP135	9662	HP:0000718	Aggressive behavior
OMIM:614852	CEP135	9662	HP:0009879	Cortical gyral simplification
OMIM:614852	CEP63	80254	HP:0000252	Microcephaly
OMIM:614852	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:614852	CEP63	80254	HP:0000718	Aggressive behavior
OMIM:614852	CEP63	80254	HP:0009879	Cortical gyral simplification
OMIM:606232	SHANK3	85358	HP:0100658	Cellulitis
OMIM:606232	SHANK3	85358	HP:0000076	Vesicoureteral reflux
OMIM:606232	SHANK3	85358	HP:0000256	Macrocephaly
OMIM:606232	SHANK3	85358	HP:0000286	Epicanthus
OMIM:606232	SHANK3	85358	HP:0000365	Hearing impairment
OMIM:606232	SHANK3	85358	HP:0001176	Large hands
OMIM:606232	SHANK3	85358	HP:0001290	Generalized hypotonia
OMIM:606232	SHANK3	85358	HP:0000490	Deeply set eye
OMIM:606232	SHANK3	85358	HP:0000431	Wide nasal bridge
OMIM:606232	SHANK3	85358	HP:0000164	Abnormality of the teeth
OMIM:606232	SHANK3	85358	HP:0001263	Global developmental delay
OMIM:606232	SHANK3	85358	HP:0001800	Hypoplastic toenails
OMIM:606232	SHANK3	85358	HP:0000218	High palate
OMIM:606232	SHANK3	85358	HP:0001537	Umbilical hernia
OMIM:606232	SHANK3	85358	HP:0000717	Autism
OMIM:606232	SHANK3	85358	HP:0001270	Motor delay
OMIM:606232	SHANK3	85358	HP:0007328	Impaired pain sensation
OMIM:606232	SHANK3	85358	HP:0000113	Polycystic kidney dysplasia
OMIM:606232	SHANK3	85358	HP:0000268	Dolichocephaly
OMIM:606232	SHANK3	85358	HP:0001004	Lymphedema
OMIM:606232	SHANK3	85358	HP:0000960	Sacral dimple
OMIM:606232	SHANK3	85358	HP:0000486	Strabismus
OMIM:606232	SHANK3	85358	HP:0000411	Protruding ear
OMIM:606232	SHANK3	85358	HP:0000272	Malar flattening
OMIM:606232	SHANK3	85358	HP:0011120	Concave nasal ridge
OMIM:606232	SHANK3	85358	HP:0100543	Cognitive impairment
OMIM:606232	SHANK3	85358	HP:0000336	Prominent supraorbital ridges
OMIM:606232	SHANK3	85358	HP:0000718	Aggressive behavior
OMIM:606232	SHANK3	85358	HP:0000499	Abnormality of the eyelashes
OMIM:606232	SHANK3	85358	HP:0000574	Thick eyebrow
OMIM:606232	SHANK3	85358	HP:0005616	Accelerated skeletal maturation
OMIM:606232	SHANK3	85358	HP:0000414	Bulbous nose
OMIM:606232	SHANK3	85358	HP:0000508	Ptosis
OMIM:606232	SHANK3	85358	HP:0002020	Gastroesophageal reflux
OMIM:606232	SHANK3	85358	HP:0001629	Ventricular septal defect
OMIM:606232	SHANK3	85358	HP:0005105	Abnormal nasal morphology
OMIM:606232	SHANK3	85358	HP:0010978	Abnormality of immune system physiology
OMIM:606232	SHANK3	85358	HP:0001252	Muscular hypotonia
OMIM:606232	SHANK3	85358	HP:0000966	Hypohidrosis
OMIM:606232	SHANK3	85358	HP:0004209	Clinodactyly of the 5th finger
OMIM:606232	SHANK3	85358	HP:0100704	Cortical visual impairment
OMIM:606232	SHANK3	85358	HP:0001250	Seizures
OMIM:606232	SHANK3	85358	HP:0003745	Sporadic
OMIM:606232	SHANK3	85358	HP:0000293	Full cheeks
OMIM:606232	SHANK3	85358	HP:0001513	Obesity
OMIM:606232	SHANK3	85358	HP:0011968	Feeding difficulties
OMIM:606232	SHANK3	85358	HP:0000343	Long philtrum
OMIM:606232	SHANK3	85358	HP:0001319	Neonatal hypotonia
OMIM:606232	SHANK3	85358	HP:0000750	Delayed speech and language development
OMIM:606232	SHANK3	85358	HP:0000400	Macrotia
OMIM:606232	SHANK3	85358	HP:0002317	Unsteady gait
OMIM:606232	SHANK3	85358	HP:0002119	Ventriculomegaly
OMIM:606232	SHANK3	85358	HP:0000307	Pointed chin
OMIM:606232	SHANK3	85358	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:606232	SHANK3	85358	HP:0000098	Tall stature
OMIM:606232	SHANK3	85358	HP:0002342	Intellectual disability, moderate
OMIM:606232	SHANK3	85358	HP:0001265	Hyporeflexia
OMIM:606232	SHANK3	85358	HP:0002188	Delayed CNS myelination
OMIM:606232	SHANK3	85358	HP:0002120	Cerebral cortical atrophy
OMIM:606232	SHANK3	85358	HP:0000331	Short chin
OMIM:606232	SHANK3	85358	HP:0000708	Behavioral abnormality
OMIM:606232	SHANK3	85358	HP:0002167	Neurological speech impairment
OMIM:606232	SHANK3	85358	HP:0000252	Microcephaly
OMIM:606232	SHANK3	85358	HP:0000527	Long eyelashes
OMIM:606232	SHANK3	85358	HP:0000689	Dental malocclusion
OMIM:606232	SHANK3	85358	HP:0002518	Abnormality of the periventricular white matter
OMIM:606232	SHANK3	85358	HP:0004691	2-3 toe syndactyly
OMIM:606232	SHANK3	85358	HP:0001643	Patent ductus arteriosus
OMIM:612580	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:612580	MBD5	55777	HP:0001249	Intellectual disability
OMIM:612580	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:612580	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:612580	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:612580	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:612580	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:612580	KIF1A	547	HP:0001249	Intellectual disability
OMIM:612580	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:612580	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:612580	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:612580	TCF4	6925	HP:0001249	Intellectual disability
OMIM:612580	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:612580	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:612580	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:612580	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:612580	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:612580	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:612580	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:612580	CDH15	1013	HP:0001249	Intellectual disability
OMIM:612580	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:612580	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:612580	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:612580	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:612580	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:612580	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:612580	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:612580	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:606574	SLC45A2	51151	HP:0000007	Autosomal recessive inheritance
OMIM:606574	SLC45A2	51151	HP:0005599	Hypopigmentation of hair
OMIM:606574	SLC45A2	51151	HP:0000639	Nystagmus
OMIM:606574	SLC45A2	51151	HP:0007703	Abnormality of retinal pigmentation
OMIM:606574	SLC45A2	51151	HP:0000635	Blue irides
OMIM:606574	SLC45A2	51151	HP:0001104	Macular hypoplasia
OMIM:606574	SLC45A2	51151	HP:0000505	Visual impairment
OMIM:606574	SLC45A2	51151	HP:0000486	Strabismus
OMIM:606574	SLC45A2	51151	HP:0007513	Generalized hypopigmentation
OMIM:606574	SLC45A2	51151	HP:0007894	Hypopigmentation of the fundus
OMIM:606574	SLC45A2	51151	HP:0000648	Optic atrophy
OMIM:606574	SLC45A2	51151	HP:0008069	Neoplasm of the skin
OMIM:606574	SLC45A2	51151	HP:0000613	Photophobia
OMIM:606574	SLC45A2	51151	HP:0001022	Albinism
OMIM:606574	SLC45A2	51151	HP:0001107	Ocular albinism
OMIM:609620	KCNQ1	3784	HP:0012232	Shortened QT interval
OMIM:609620	KCNQ1	3784	HP:0001279	Syncope
OMIM:609620	KCNQ1	3784	HP:0001695	Cardiac arrest
OMIM:609620	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:609620	KCNQ1	3784	HP:0001962	Palpitations
OMIM:609620	KCNH2	3757	HP:0012232	Shortened QT interval
OMIM:609620	KCNH2	3757	HP:0001279	Syncope
OMIM:609620	KCNH2	3757	HP:0001695	Cardiac arrest
OMIM:609620	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:609620	KCNH2	3757	HP:0001962	Palpitations
OMIM:609620	CACNA2D1	781	HP:0012232	Shortened QT interval
OMIM:609620	CACNA2D1	781	HP:0001279	Syncope
OMIM:609620	CACNA2D1	781	HP:0001695	Cardiac arrest
OMIM:609620	CACNA2D1	781	HP:0000006	Autosomal dominant inheritance
OMIM:609620	CACNA2D1	781	HP:0001962	Palpitations
OMIM:609620	KCNJ2	3759	HP:0012232	Shortened QT interval
OMIM:609620	KCNJ2	3759	HP:0001279	Syncope
OMIM:609620	KCNJ2	3759	HP:0001695	Cardiac arrest
OMIM:609620	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:609620	KCNJ2	3759	HP:0001962	Palpitations
OMIM:224690	CDT1	81620	HP:0000376	Incomplete partition of the cochlea type II
OMIM:224690	CDT1	81620	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:224690	CDT1	81620	HP:0000413	Atresia of the external auditory canal
OMIM:224690	CDT1	81620	HP:0000057	Clitoromegaly
OMIM:224690	CDT1	81620	HP:0000179	Thick lower lip vermilion
OMIM:224690	CDT1	81620	HP:0000175	Cleft palate
OMIM:224690	CDT1	81620	HP:0002007	Frontal bossing
OMIM:224690	CDT1	81620	HP:0001508	Failure to thrive
OMIM:224690	CDT1	81620	HP:0002020	Gastroesophageal reflux
OMIM:224690	CDT1	81620	HP:0002970	Genu varum
OMIM:224690	CDT1	81620	HP:0000365	Hearing impairment
OMIM:224690	CDT1	81620	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:224690	CDT1	81620	HP:0009473	Joint contracture of the hand
OMIM:224690	CDT1	81620	HP:0000768	Pectus carinatum
OMIM:224690	CDT1	81620	HP:0004209	Clinodactyly of the 5th finger
OMIM:224690	CDT1	81620	HP:0000963	Thin skin
OMIM:224690	CDT1	81620	HP:0003042	Elbow dislocation
OMIM:224690	CDT1	81620	HP:0000486	Strabismus
OMIM:224690	CDT1	81620	HP:0000369	Low-set ears
OMIM:224690	CDT1	81620	HP:0000581	Blepharophimosis
OMIM:224690	CDT1	81620	HP:0000160	Narrow mouth
OMIM:224690	CDT1	81620	HP:0001762	Talipes equinovarus
OMIM:224690	CDT1	81620	HP:0001425	Heterogeneous
OMIM:224690	CDT1	81620	HP:0001249	Intellectual disability
OMIM:224690	CDT1	81620	HP:0002937	Hemivertebrae
OMIM:224690	CDT1	81620	HP:0008551	Microtia
OMIM:224690	CDT1	81620	HP:0000049	Shawl scrotum
OMIM:224690	CDT1	81620	HP:0000218	High palate
OMIM:224690	CDT1	81620	HP:0000527	Long eyelashes
OMIM:224690	CDT1	81620	HP:0012385	Camptodactyly
OMIM:224690	CDT1	81620	HP:0000252	Microcephaly
OMIM:224690	CDT1	81620	HP:0012745	Short palpebral fissure
OMIM:224690	CDT1	81620	HP:0200055	Small hand
OMIM:224690	CDT1	81620	HP:0001511	Intrauterine growth retardation
OMIM:224690	CDT1	81620	HP:0000007	Autosomal recessive inheritance
OMIM:224690	CDT1	81620	HP:0001518	Small for gestational age
OMIM:224690	CDT1	81620	HP:0003100	Slender long bone
OMIM:224690	CDT1	81620	HP:0002750	Delayed skeletal maturation
OMIM:224690	CDT1	81620	HP:0001388	Joint laxity
OMIM:224690	CDT1	81620	HP:0000347	Micrognathia
OMIM:224690	CDT1	81620	HP:0000028	Cryptorchidism
OMIM:224690	CDT1	81620	HP:0000691	Microdontia
OMIM:224690	CDT1	81620	HP:0000773	Short ribs
OMIM:224690	CDT1	81620	HP:0004279	Short palm
OMIM:224690	CDT1	81620	HP:0008872	Feeding difficulties in infancy
OMIM:224690	CDT1	81620	HP:0002857	Genu valgum
OMIM:224690	CDT1	81620	HP:0000054	Micropenis
OMIM:224690	CDT1	81620	HP:0010554	Cutaneous finger syndactyly
OMIM:224690	CDT1	81620	HP:0000327	Hypoplasia of the maxilla
OMIM:224690	CDT1	81620	HP:0000237	Small anterior fontanelle
OMIM:224690	CDT1	81620	HP:0002098	Respiratory distress
OMIM:224690	ORC1	4998	HP:0000376	Incomplete partition of the cochlea type II
OMIM:224690	ORC1	4998	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:224690	ORC1	4998	HP:0000413	Atresia of the external auditory canal
OMIM:224690	ORC1	4998	HP:0000057	Clitoromegaly
OMIM:224690	ORC1	4998	HP:0000179	Thick lower lip vermilion
OMIM:224690	ORC1	4998	HP:0000175	Cleft palate
OMIM:224690	ORC1	4998	HP:0002007	Frontal bossing
OMIM:224690	ORC1	4998	HP:0001508	Failure to thrive
OMIM:224690	ORC1	4998	HP:0002020	Gastroesophageal reflux
OMIM:224690	ORC1	4998	HP:0002970	Genu varum
OMIM:224690	ORC1	4998	HP:0000365	Hearing impairment
OMIM:224690	ORC1	4998	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:224690	ORC1	4998	HP:0009473	Joint contracture of the hand
OMIM:224690	ORC1	4998	HP:0000768	Pectus carinatum
OMIM:224690	ORC1	4998	HP:0004209	Clinodactyly of the 5th finger
OMIM:224690	ORC1	4998	HP:0000963	Thin skin
OMIM:224690	ORC1	4998	HP:0003042	Elbow dislocation
OMIM:224690	ORC1	4998	HP:0000486	Strabismus
OMIM:224690	ORC1	4998	HP:0000369	Low-set ears
OMIM:224690	ORC1	4998	HP:0000581	Blepharophimosis
OMIM:224690	ORC1	4998	HP:0000160	Narrow mouth
OMIM:224690	ORC1	4998	HP:0001762	Talipes equinovarus
OMIM:224690	ORC1	4998	HP:0001425	Heterogeneous
OMIM:224690	ORC1	4998	HP:0001249	Intellectual disability
OMIM:224690	ORC1	4998	HP:0002937	Hemivertebrae
OMIM:224690	ORC1	4998	HP:0008551	Microtia
OMIM:224690	ORC1	4998	HP:0000049	Shawl scrotum
OMIM:224690	ORC1	4998	HP:0000218	High palate
OMIM:224690	ORC1	4998	HP:0000527	Long eyelashes
OMIM:224690	ORC1	4998	HP:0012385	Camptodactyly
OMIM:224690	ORC1	4998	HP:0000252	Microcephaly
OMIM:224690	ORC1	4998	HP:0012745	Short palpebral fissure
OMIM:224690	ORC1	4998	HP:0200055	Small hand
OMIM:224690	ORC1	4998	HP:0001511	Intrauterine growth retardation
OMIM:224690	ORC1	4998	HP:0000007	Autosomal recessive inheritance
OMIM:224690	ORC1	4998	HP:0001518	Small for gestational age
OMIM:224690	ORC1	4998	HP:0003100	Slender long bone
OMIM:224690	ORC1	4998	HP:0002750	Delayed skeletal maturation
OMIM:224690	ORC1	4998	HP:0001388	Joint laxity
OMIM:224690	ORC1	4998	HP:0000347	Micrognathia
OMIM:224690	ORC1	4998	HP:0000028	Cryptorchidism
OMIM:224690	ORC1	4998	HP:0000691	Microdontia
OMIM:224690	ORC1	4998	HP:0000773	Short ribs
OMIM:224690	ORC1	4998	HP:0004279	Short palm
OMIM:224690	ORC1	4998	HP:0008872	Feeding difficulties in infancy
OMIM:224690	ORC1	4998	HP:0002857	Genu valgum
OMIM:224690	ORC1	4998	HP:0000054	Micropenis
OMIM:224690	ORC1	4998	HP:0010554	Cutaneous finger syndactyly
OMIM:224690	ORC1	4998	HP:0000327	Hypoplasia of the maxilla
OMIM:224690	ORC1	4998	HP:0000237	Small anterior fontanelle
OMIM:224690	ORC1	4998	HP:0002098	Respiratory distress
OMIM:224690	ORC4	5000	HP:0000376	Incomplete partition of the cochlea type II
OMIM:224690	ORC4	5000	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:224690	ORC4	5000	HP:0000413	Atresia of the external auditory canal
OMIM:224690	ORC4	5000	HP:0000057	Clitoromegaly
OMIM:224690	ORC4	5000	HP:0000179	Thick lower lip vermilion
OMIM:224690	ORC4	5000	HP:0000175	Cleft palate
OMIM:224690	ORC4	5000	HP:0002007	Frontal bossing
OMIM:224690	ORC4	5000	HP:0001508	Failure to thrive
OMIM:224690	ORC4	5000	HP:0002020	Gastroesophageal reflux
OMIM:224690	ORC4	5000	HP:0002970	Genu varum
OMIM:224690	ORC4	5000	HP:0000365	Hearing impairment
OMIM:224690	ORC4	5000	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:224690	ORC4	5000	HP:0009473	Joint contracture of the hand
OMIM:224690	ORC4	5000	HP:0000768	Pectus carinatum
OMIM:224690	ORC4	5000	HP:0004209	Clinodactyly of the 5th finger
OMIM:224690	ORC4	5000	HP:0000963	Thin skin
OMIM:224690	ORC4	5000	HP:0003042	Elbow dislocation
OMIM:224690	ORC4	5000	HP:0000486	Strabismus
OMIM:224690	ORC4	5000	HP:0000369	Low-set ears
OMIM:224690	ORC4	5000	HP:0000581	Blepharophimosis
OMIM:224690	ORC4	5000	HP:0000160	Narrow mouth
OMIM:224690	ORC4	5000	HP:0001762	Talipes equinovarus
OMIM:224690	ORC4	5000	HP:0001425	Heterogeneous
OMIM:224690	ORC4	5000	HP:0001249	Intellectual disability
OMIM:224690	ORC4	5000	HP:0002937	Hemivertebrae
OMIM:224690	ORC4	5000	HP:0008551	Microtia
OMIM:224690	ORC4	5000	HP:0000049	Shawl scrotum
OMIM:224690	ORC4	5000	HP:0000218	High palate
OMIM:224690	ORC4	5000	HP:0000527	Long eyelashes
OMIM:224690	ORC4	5000	HP:0012385	Camptodactyly
OMIM:224690	ORC4	5000	HP:0000252	Microcephaly
OMIM:224690	ORC4	5000	HP:0012745	Short palpebral fissure
OMIM:224690	ORC4	5000	HP:0200055	Small hand
OMIM:224690	ORC4	5000	HP:0001511	Intrauterine growth retardation
OMIM:224690	ORC4	5000	HP:0000007	Autosomal recessive inheritance
OMIM:224690	ORC4	5000	HP:0001518	Small for gestational age
OMIM:224690	ORC4	5000	HP:0003100	Slender long bone
OMIM:224690	ORC4	5000	HP:0002750	Delayed skeletal maturation
OMIM:224690	ORC4	5000	HP:0001388	Joint laxity
OMIM:224690	ORC4	5000	HP:0000347	Micrognathia
OMIM:224690	ORC4	5000	HP:0000028	Cryptorchidism
OMIM:224690	ORC4	5000	HP:0000691	Microdontia
OMIM:224690	ORC4	5000	HP:0000773	Short ribs
OMIM:224690	ORC4	5000	HP:0004279	Short palm
OMIM:224690	ORC4	5000	HP:0008872	Feeding difficulties in infancy
OMIM:224690	ORC4	5000	HP:0002857	Genu valgum
OMIM:224690	ORC4	5000	HP:0000054	Micropenis
OMIM:224690	ORC4	5000	HP:0010554	Cutaneous finger syndactyly
OMIM:224690	ORC4	5000	HP:0000327	Hypoplasia of the maxilla
OMIM:224690	ORC4	5000	HP:0000237	Small anterior fontanelle
OMIM:224690	ORC4	5000	HP:0002098	Respiratory distress
OMIM:224690	ORC6	23594	HP:0000376	Incomplete partition of the cochlea type II
OMIM:224690	ORC6	23594	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:224690	ORC6	23594	HP:0000413	Atresia of the external auditory canal
OMIM:224690	ORC6	23594	HP:0000057	Clitoromegaly
OMIM:224690	ORC6	23594	HP:0000179	Thick lower lip vermilion
OMIM:224690	ORC6	23594	HP:0000175	Cleft palate
OMIM:224690	ORC6	23594	HP:0002007	Frontal bossing
OMIM:224690	ORC6	23594	HP:0001508	Failure to thrive
OMIM:224690	ORC6	23594	HP:0002020	Gastroesophageal reflux
OMIM:224690	ORC6	23594	HP:0002970	Genu varum
OMIM:224690	ORC6	23594	HP:0000365	Hearing impairment
OMIM:224690	ORC6	23594	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:224690	ORC6	23594	HP:0009473	Joint contracture of the hand
OMIM:224690	ORC6	23594	HP:0000768	Pectus carinatum
OMIM:224690	ORC6	23594	HP:0004209	Clinodactyly of the 5th finger
OMIM:224690	ORC6	23594	HP:0000963	Thin skin
OMIM:224690	ORC6	23594	HP:0003042	Elbow dislocation
OMIM:224690	ORC6	23594	HP:0000486	Strabismus
OMIM:224690	ORC6	23594	HP:0000369	Low-set ears
OMIM:224690	ORC6	23594	HP:0000581	Blepharophimosis
OMIM:224690	ORC6	23594	HP:0000160	Narrow mouth
OMIM:224690	ORC6	23594	HP:0001762	Talipes equinovarus
OMIM:224690	ORC6	23594	HP:0001425	Heterogeneous
OMIM:224690	ORC6	23594	HP:0001249	Intellectual disability
OMIM:224690	ORC6	23594	HP:0002937	Hemivertebrae
OMIM:224690	ORC6	23594	HP:0008551	Microtia
OMIM:224690	ORC6	23594	HP:0000049	Shawl scrotum
OMIM:224690	ORC6	23594	HP:0000218	High palate
OMIM:224690	ORC6	23594	HP:0000527	Long eyelashes
OMIM:224690	ORC6	23594	HP:0012385	Camptodactyly
OMIM:224690	ORC6	23594	HP:0000252	Microcephaly
OMIM:224690	ORC6	23594	HP:0012745	Short palpebral fissure
OMIM:224690	ORC6	23594	HP:0200055	Small hand
OMIM:224690	ORC6	23594	HP:0001511	Intrauterine growth retardation
OMIM:224690	ORC6	23594	HP:0000007	Autosomal recessive inheritance
OMIM:224690	ORC6	23594	HP:0001518	Small for gestational age
OMIM:224690	ORC6	23594	HP:0003100	Slender long bone
OMIM:224690	ORC6	23594	HP:0002750	Delayed skeletal maturation
OMIM:224690	ORC6	23594	HP:0001388	Joint laxity
OMIM:224690	ORC6	23594	HP:0000347	Micrognathia
OMIM:224690	ORC6	23594	HP:0000028	Cryptorchidism
OMIM:224690	ORC6	23594	HP:0000691	Microdontia
OMIM:224690	ORC6	23594	HP:0000773	Short ribs
OMIM:224690	ORC6	23594	HP:0004279	Short palm
OMIM:224690	ORC6	23594	HP:0008872	Feeding difficulties in infancy
OMIM:224690	ORC6	23594	HP:0002857	Genu valgum
OMIM:224690	ORC6	23594	HP:0000054	Micropenis
OMIM:224690	ORC6	23594	HP:0010554	Cutaneous finger syndactyly
OMIM:224690	ORC6	23594	HP:0000327	Hypoplasia of the maxilla
OMIM:224690	ORC6	23594	HP:0000237	Small anterior fontanelle
OMIM:224690	ORC6	23594	HP:0002098	Respiratory distress
OMIM:224690	CDC6	990	HP:0000376	Incomplete partition of the cochlea type II
OMIM:224690	CDC6	990	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:224690	CDC6	990	HP:0000413	Atresia of the external auditory canal
OMIM:224690	CDC6	990	HP:0000057	Clitoromegaly
OMIM:224690	CDC6	990	HP:0000179	Thick lower lip vermilion
OMIM:224690	CDC6	990	HP:0000175	Cleft palate
OMIM:224690	CDC6	990	HP:0002007	Frontal bossing
OMIM:224690	CDC6	990	HP:0001508	Failure to thrive
OMIM:224690	CDC6	990	HP:0002020	Gastroesophageal reflux
OMIM:224690	CDC6	990	HP:0002970	Genu varum
OMIM:224690	CDC6	990	HP:0000365	Hearing impairment
OMIM:224690	CDC6	990	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:224690	CDC6	990	HP:0009473	Joint contracture of the hand
OMIM:224690	CDC6	990	HP:0000768	Pectus carinatum
OMIM:224690	CDC6	990	HP:0004209	Clinodactyly of the 5th finger
OMIM:224690	CDC6	990	HP:0000963	Thin skin
OMIM:224690	CDC6	990	HP:0003042	Elbow dislocation
OMIM:224690	CDC6	990	HP:0000486	Strabismus
OMIM:224690	CDC6	990	HP:0000369	Low-set ears
OMIM:224690	CDC6	990	HP:0000581	Blepharophimosis
OMIM:224690	CDC6	990	HP:0000160	Narrow mouth
OMIM:224690	CDC6	990	HP:0001762	Talipes equinovarus
OMIM:224690	CDC6	990	HP:0001425	Heterogeneous
OMIM:224690	CDC6	990	HP:0001249	Intellectual disability
OMIM:224690	CDC6	990	HP:0002937	Hemivertebrae
OMIM:224690	CDC6	990	HP:0008551	Microtia
OMIM:224690	CDC6	990	HP:0000049	Shawl scrotum
OMIM:224690	CDC6	990	HP:0000218	High palate
OMIM:224690	CDC6	990	HP:0000527	Long eyelashes
OMIM:224690	CDC6	990	HP:0012385	Camptodactyly
OMIM:224690	CDC6	990	HP:0000252	Microcephaly
OMIM:224690	CDC6	990	HP:0012745	Short palpebral fissure
OMIM:224690	CDC6	990	HP:0200055	Small hand
OMIM:224690	CDC6	990	HP:0001511	Intrauterine growth retardation
OMIM:224690	CDC6	990	HP:0000007	Autosomal recessive inheritance
OMIM:224690	CDC6	990	HP:0001518	Small for gestational age
OMIM:224690	CDC6	990	HP:0003100	Slender long bone
OMIM:224690	CDC6	990	HP:0002750	Delayed skeletal maturation
OMIM:224690	CDC6	990	HP:0001388	Joint laxity
OMIM:224690	CDC6	990	HP:0000347	Micrognathia
OMIM:224690	CDC6	990	HP:0000028	Cryptorchidism
OMIM:224690	CDC6	990	HP:0000691	Microdontia
OMIM:224690	CDC6	990	HP:0000773	Short ribs
OMIM:224690	CDC6	990	HP:0004279	Short palm
OMIM:224690	CDC6	990	HP:0008872	Feeding difficulties in infancy
OMIM:224690	CDC6	990	HP:0002857	Genu valgum
OMIM:224690	CDC6	990	HP:0000054	Micropenis
OMIM:224690	CDC6	990	HP:0010554	Cutaneous finger syndactyly
OMIM:224690	CDC6	990	HP:0000327	Hypoplasia of the maxilla
OMIM:224690	CDC6	990	HP:0000237	Small anterior fontanelle
OMIM:224690	CDC6	990	HP:0002098	Respiratory distress
OMIM:609636	PSEN2	5664	HP:0000726	Dementia
OMIM:609636	PSEN2	5664	HP:0002167	Neurological speech impairment
OMIM:609636	PSEN2	5664	HP:0002120	Cerebral cortical atrophy
OMIM:609636	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:609636	PSEN2	5664	HP:0002354	Memory impairment
OMIM:609636	SORL1	6653	HP:0000726	Dementia
OMIM:609636	SORL1	6653	HP:0002167	Neurological speech impairment
OMIM:609636	SORL1	6653	HP:0002120	Cerebral cortical atrophy
OMIM:609636	SORL1	6653	HP:0000006	Autosomal dominant inheritance
OMIM:609636	SORL1	6653	HP:0002354	Memory impairment
OMIM:609636	PSEN1	5663	HP:0000726	Dementia
OMIM:609636	PSEN1	5663	HP:0002167	Neurological speech impairment
OMIM:609636	PSEN1	5663	HP:0002120	Cerebral cortical atrophy
OMIM:609636	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:609636	PSEN1	5663	HP:0002354	Memory impairment
OMIM:609636	APP	351	HP:0000726	Dementia
OMIM:609636	APP	351	HP:0002167	Neurological speech impairment
OMIM:609636	APP	351	HP:0002120	Cerebral cortical atrophy
OMIM:609636	APP	351	HP:0000006	Autosomal dominant inheritance
OMIM:609636	APP	351	HP:0002354	Memory impairment
OMIM:614049	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:614049	GATA4	2626	HP:0005110	Atrial fibrillation
OMIM:614049	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:614049	GATA6	2627	HP:0005110	Atrial fibrillation
OMIM:614049	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:614049	KCNE2	9992	HP:0005110	Atrial fibrillation
OMIM:614049	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:614049	KCNQ1	3784	HP:0005110	Atrial fibrillation
OMIM:614049	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:614049	KCNE1	3753	HP:0005110	Atrial fibrillation
OMIM:614049	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:614049	NKX2-5	1482	HP:0005110	Atrial fibrillation
OMIM:614049	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:614049	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:614049	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:614049	GJA5	2702	HP:0005110	Atrial fibrillation
OMIM:614049	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:614049	NPPA	4878	HP:0005110	Atrial fibrillation
OMIM:614049	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:614049	KCNJ2	3759	HP:0005110	Atrial fibrillation
OMIM:614049	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:614049	NKX2-6	137814	HP:0005110	Atrial fibrillation
OMIM:614049	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:614049	GATA5	140628	HP:0005110	Atrial fibrillation
OMIM:614049	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:614049	SCN2B	6327	HP:0005110	Atrial fibrillation
OMIM:614049	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:614049	SCN3B	55800	HP:0005110	Atrial fibrillation
OMIM:614049	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:614049	SCN4B	6330	HP:0005110	Atrial fibrillation
OMIM:614049	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:614049	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:614049	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:614049	PITX2	5308	HP:0005110	Atrial fibrillation
OMIM:614049	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
OMIM:614049	KCNA5	3741	HP:0005110	Atrial fibrillation
OMIM:614049	NUP155	9631	HP:0000006	Autosomal dominant inheritance
OMIM:614049	NUP155	9631	HP:0005110	Atrial fibrillation
ORPHANET:93284	TRAPPC2	6399	HP:0004322	Short stature
ORPHANET:93284	TRAPPC2	6399	HP:0002652	Skeletal dysplasia
ORPHANET:93284	TRAPPC2	6399	HP:0002808	Kyphosis
ORPHANET:93284	TRAPPC2	6399	HP:0003307	Hyperlordosis
ORPHANET:93284	TRAPPC2	6399	HP:0002829	Arthralgia
ORPHANET:93284	TRAPPC2	6399	HP:0010306	Short thorax
ORPHANET:93284	TRAPPC2	6399	HP:0003311	Hypoplasia of the odontoid process
ORPHANET:93284	TRAPPC2	6399	HP:0000470	Short neck
ORPHANET:93284	TRAPPC2	6399	HP:0003272	Abnormality of the hip bone
ORPHANET:93284	TRAPPC2	6399	HP:0002758	Osteoarthritis
ORPHANET:93284	TRAPPC2	6399	HP:0002983	Micromelia
ORPHANET:93284	TRAPPC2	6399	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:93284	TRAPPC2	6399	HP:0000926	Platyspondyly
ORPHANET:93284	TRAPPC2	6399	HP:0002650	Scoliosis
OMIM:603467	FANCC	2176	HP:0000007	Autosomal recessive inheritance
OMIM:603467	FANCC	2176	HP:0003220	Abnormality of chromosome stability
OMIM:603467	FANCC	2176	HP:0005528	Bone marrow hypocellularity
OMIM:603467	FANCD2	2177	HP:0000007	Autosomal recessive inheritance
OMIM:603467	FANCD2	2177	HP:0003220	Abnormality of chromosome stability
OMIM:603467	FANCD2	2177	HP:0005528	Bone marrow hypocellularity
OMIM:603467	FANCM	57697	HP:0000007	Autosomal recessive inheritance
OMIM:603467	FANCM	57697	HP:0003220	Abnormality of chromosome stability
OMIM:603467	FANCM	57697	HP:0005528	Bone marrow hypocellularity
OMIM:603467	RAD51C	5889	HP:0000007	Autosomal recessive inheritance
OMIM:603467	RAD51C	5889	HP:0003220	Abnormality of chromosome stability
OMIM:603467	RAD51C	5889	HP:0005528	Bone marrow hypocellularity
OMIM:603467	UBE2T	29089	HP:0000007	Autosomal recessive inheritance
OMIM:603467	UBE2T	29089	HP:0003220	Abnormality of chromosome stability
OMIM:603467	UBE2T	29089	HP:0005528	Bone marrow hypocellularity
OMIM:603467	FANCE	2178	HP:0000007	Autosomal recessive inheritance
OMIM:603467	FANCE	2178	HP:0003220	Abnormality of chromosome stability
OMIM:603467	FANCE	2178	HP:0005528	Bone marrow hypocellularity
OMIM:603467	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:603467	BRCA2	675	HP:0003220	Abnormality of chromosome stability
OMIM:603467	BRCA2	675	HP:0005528	Bone marrow hypocellularity
OMIM:603467	FANCB	2187	HP:0000007	Autosomal recessive inheritance
OMIM:603467	FANCB	2187	HP:0003220	Abnormality of chromosome stability
OMIM:603467	FANCB	2187	HP:0005528	Bone marrow hypocellularity
OMIM:603467	FANCF	2188	HP:0000007	Autosomal recessive inheritance
OMIM:603467	FANCF	2188	HP:0003220	Abnormality of chromosome stability
OMIM:603467	FANCF	2188	HP:0005528	Bone marrow hypocellularity
OMIM:603467	FANCG	2189	HP:0000007	Autosomal recessive inheritance
OMIM:603467	FANCG	2189	HP:0003220	Abnormality of chromosome stability
OMIM:603467	FANCG	2189	HP:0005528	Bone marrow hypocellularity
OMIM:603467	FANCI	55215	HP:0000007	Autosomal recessive inheritance
OMIM:603467	FANCI	55215	HP:0003220	Abnormality of chromosome stability
OMIM:603467	FANCI	55215	HP:0005528	Bone marrow hypocellularity
OMIM:603467	FANCL	55120	HP:0000007	Autosomal recessive inheritance
OMIM:603467	FANCL	55120	HP:0003220	Abnormality of chromosome stability
OMIM:603467	FANCL	55120	HP:0005528	Bone marrow hypocellularity
OMIM:603467	PALB2	79728	HP:0000007	Autosomal recessive inheritance
OMIM:603467	PALB2	79728	HP:0003220	Abnormality of chromosome stability
OMIM:603467	PALB2	79728	HP:0005528	Bone marrow hypocellularity
OMIM:603467	SLX4	84464	HP:0000007	Autosomal recessive inheritance
OMIM:603467	SLX4	84464	HP:0003220	Abnormality of chromosome stability
OMIM:603467	SLX4	84464	HP:0005528	Bone marrow hypocellularity
OMIM:603467	BRIP1	83990	HP:0000007	Autosomal recessive inheritance
OMIM:603467	BRIP1	83990	HP:0003220	Abnormality of chromosome stability
OMIM:603467	BRIP1	83990	HP:0005528	Bone marrow hypocellularity
OMIM:603467	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:603467	ERCC4	2072	HP:0003220	Abnormality of chromosome stability
OMIM:603467	ERCC4	2072	HP:0005528	Bone marrow hypocellularity
OMIM:603467	FANCA	2175	HP:0000007	Autosomal recessive inheritance
OMIM:603467	FANCA	2175	HP:0003220	Abnormality of chromosome stability
OMIM:603467	FANCA	2175	HP:0005528	Bone marrow hypocellularity
OMIM:604864	COL2A1	1280	HP:0003301	Irregular vertebral endplates
OMIM:604864	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:604864	COL2A1	1280	HP:0004322	Short stature
OMIM:604864	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:604864	COL2A1	1280	HP:0001387	Joint stiffness
OMIM:604931	HSD11B1	3290	HP:0001007	Hirsutism
OMIM:604931	HSD11B1	3290	HP:0000876	Oligomenorrhea
OMIM:604931	HSD11B1	3290	HP:0001513	Obesity
OMIM:604931	HSD11B1	3290	HP:0001061	Acne
OMIM:604931	HSD11B1	3290	HP:0000007	Autosomal recessive inheritance
OMIM:604931	HSD11B1	3290	HP:0000789	Infertility
OMIM:604931	H6PD	9563	HP:0001007	Hirsutism
OMIM:604931	H6PD	9563	HP:0000876	Oligomenorrhea
OMIM:604931	H6PD	9563	HP:0001513	Obesity
OMIM:604931	H6PD	9563	HP:0001061	Acne
OMIM:604931	H6PD	9563	HP:0000007	Autosomal recessive inheritance
OMIM:604931	H6PD	9563	HP:0000789	Infertility
OMIM:615491	UCHL1	7345	HP:0003487	Babinski sign
OMIM:615491	UCHL1	7345	HP:0003676	Progressive
OMIM:615491	UCHL1	7345	HP:0000007	Autosomal recessive inheritance
OMIM:615491	UCHL1	7345	HP:0000639	Nystagmus
OMIM:615491	UCHL1	7345	HP:0000648	Optic atrophy
OMIM:615491	UCHL1	7345	HP:0000572	Visual loss
OMIM:615491	UCHL1	7345	HP:0002059	Cerebral atrophy
OMIM:615491	UCHL1	7345	HP:0001347	Hyperreflexia
OMIM:615491	UCHL1	7345	HP:0002180	Neurodegeneration
OMIM:615491	UCHL1	7345	HP:0001272	Cerebellar atrophy
OMIM:615491	UCHL1	7345	HP:0001310	Dysmetria
OMIM:615249	B4GAT1	11041	HP:0001263	Global developmental delay
OMIM:615249	B4GAT1	11041	HP:0001250	Seizures
OMIM:615249	B4GAT1	11041	HP:0007663	Reduced visual acuity
OMIM:615249	B4GAT1	11041	HP:0001274	Agenesis of corpus callosum
OMIM:615249	B4GAT1	11041	HP:0000505	Visual impairment
OMIM:615249	B4GAT1	11041	HP:0000407	Sensorineural hearing impairment
OMIM:615249	B4GAT1	11041	HP:0000568	Microphthalmia
OMIM:615249	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:615249	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:615249	B4GAT1	11041	HP:0001319	Neonatal hypotonia
OMIM:615249	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:615249	B4GAT1	11041	HP:0000252	Microcephaly
OMIM:615249	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	B4GAT1	11041	HP:0000589	Coloboma
OMIM:615249	B4GAT1	11041	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	B4GAT1	11041	HP:0002465	Poor speech
OMIM:615249	B4GAT1	11041	HP:0011968	Feeding difficulties
OMIM:615249	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
OMIM:615249	B4GAT1	11041	HP:0001371	Flexion contracture
OMIM:615249	B4GAT1	11041	HP:0000518	Cataract
OMIM:615249	B4GAT1	11041	HP:0001090	Large eyes
OMIM:615249	B4GAT1	11041	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	B4GAT1	11041	HP:0000546	Retinal degeneration
OMIM:615249	B4GAT1	11041	HP:0002650	Scoliosis
OMIM:615249	B4GAT1	11041	HP:0002421	Poor head control
OMIM:615249	POMT2	29954	HP:0001263	Global developmental delay
OMIM:615249	POMT2	29954	HP:0001250	Seizures
OMIM:615249	POMT2	29954	HP:0007663	Reduced visual acuity
OMIM:615249	POMT2	29954	HP:0001274	Agenesis of corpus callosum
OMIM:615249	POMT2	29954	HP:0000505	Visual impairment
OMIM:615249	POMT2	29954	HP:0000407	Sensorineural hearing impairment
OMIM:615249	POMT2	29954	HP:0000568	Microphthalmia
OMIM:615249	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:615249	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:615249	POMT2	29954	HP:0001319	Neonatal hypotonia
OMIM:615249	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:615249	POMT2	29954	HP:0000252	Microcephaly
OMIM:615249	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	POMT2	29954	HP:0000589	Coloboma
OMIM:615249	POMT2	29954	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	POMT2	29954	HP:0002465	Poor speech
OMIM:615249	POMT2	29954	HP:0011968	Feeding difficulties
OMIM:615249	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:615249	POMT2	29954	HP:0001371	Flexion contracture
OMIM:615249	POMT2	29954	HP:0000518	Cataract
OMIM:615249	POMT2	29954	HP:0001090	Large eyes
OMIM:615249	POMT2	29954	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	POMT2	29954	HP:0000546	Retinal degeneration
OMIM:615249	POMT2	29954	HP:0002650	Scoliosis
OMIM:615249	POMT2	29954	HP:0002421	Poor head control
OMIM:615249	COL4A1	1282	HP:0001263	Global developmental delay
OMIM:615249	COL4A1	1282	HP:0001250	Seizures
OMIM:615249	COL4A1	1282	HP:0007663	Reduced visual acuity
OMIM:615249	COL4A1	1282	HP:0001274	Agenesis of corpus callosum
OMIM:615249	COL4A1	1282	HP:0000505	Visual impairment
OMIM:615249	COL4A1	1282	HP:0000407	Sensorineural hearing impairment
OMIM:615249	COL4A1	1282	HP:0000568	Microphthalmia
OMIM:615249	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:615249	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:615249	COL4A1	1282	HP:0001319	Neonatal hypotonia
OMIM:615249	COL4A1	1282	HP:0003560	Muscular dystrophy
OMIM:615249	COL4A1	1282	HP:0000252	Microcephaly
OMIM:615249	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	COL4A1	1282	HP:0000589	Coloboma
OMIM:615249	COL4A1	1282	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	COL4A1	1282	HP:0002465	Poor speech
OMIM:615249	COL4A1	1282	HP:0011968	Feeding difficulties
OMIM:615249	COL4A1	1282	HP:0001321	Cerebellar hypoplasia
OMIM:615249	COL4A1	1282	HP:0001371	Flexion contracture
OMIM:615249	COL4A1	1282	HP:0000518	Cataract
OMIM:615249	COL4A1	1282	HP:0001090	Large eyes
OMIM:615249	COL4A1	1282	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	COL4A1	1282	HP:0000546	Retinal degeneration
OMIM:615249	COL4A1	1282	HP:0002650	Scoliosis
OMIM:615249	COL4A1	1282	HP:0002421	Poor head control
OMIM:615249	POMK	84197	HP:0001263	Global developmental delay
OMIM:615249	POMK	84197	HP:0001250	Seizures
OMIM:615249	POMK	84197	HP:0007663	Reduced visual acuity
OMIM:615249	POMK	84197	HP:0001274	Agenesis of corpus callosum
OMIM:615249	POMK	84197	HP:0000505	Visual impairment
OMIM:615249	POMK	84197	HP:0000407	Sensorineural hearing impairment
OMIM:615249	POMK	84197	HP:0000568	Microphthalmia
OMIM:615249	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:615249	POMK	84197	HP:0000238	Hydrocephalus
OMIM:615249	POMK	84197	HP:0001319	Neonatal hypotonia
OMIM:615249	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:615249	POMK	84197	HP:0000252	Microcephaly
OMIM:615249	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	POMK	84197	HP:0000589	Coloboma
OMIM:615249	POMK	84197	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	POMK	84197	HP:0002465	Poor speech
OMIM:615249	POMK	84197	HP:0011968	Feeding difficulties
OMIM:615249	POMK	84197	HP:0001321	Cerebellar hypoplasia
OMIM:615249	POMK	84197	HP:0001371	Flexion contracture
OMIM:615249	POMK	84197	HP:0000518	Cataract
OMIM:615249	POMK	84197	HP:0001090	Large eyes
OMIM:615249	POMK	84197	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	POMK	84197	HP:0000546	Retinal degeneration
OMIM:615249	POMK	84197	HP:0002650	Scoliosis
OMIM:615249	POMK	84197	HP:0002421	Poor head control
OMIM:615249	DAG1	1605	HP:0001263	Global developmental delay
OMIM:615249	DAG1	1605	HP:0001250	Seizures
OMIM:615249	DAG1	1605	HP:0007663	Reduced visual acuity
OMIM:615249	DAG1	1605	HP:0001274	Agenesis of corpus callosum
OMIM:615249	DAG1	1605	HP:0000505	Visual impairment
OMIM:615249	DAG1	1605	HP:0000407	Sensorineural hearing impairment
OMIM:615249	DAG1	1605	HP:0000568	Microphthalmia
OMIM:615249	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:615249	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:615249	DAG1	1605	HP:0001319	Neonatal hypotonia
OMIM:615249	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:615249	DAG1	1605	HP:0000252	Microcephaly
OMIM:615249	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	DAG1	1605	HP:0000589	Coloboma
OMIM:615249	DAG1	1605	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	DAG1	1605	HP:0002465	Poor speech
OMIM:615249	DAG1	1605	HP:0011968	Feeding difficulties
OMIM:615249	DAG1	1605	HP:0001321	Cerebellar hypoplasia
OMIM:615249	DAG1	1605	HP:0001371	Flexion contracture
OMIM:615249	DAG1	1605	HP:0000518	Cataract
OMIM:615249	DAG1	1605	HP:0001090	Large eyes
OMIM:615249	DAG1	1605	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	DAG1	1605	HP:0000546	Retinal degeneration
OMIM:615249	DAG1	1605	HP:0002650	Scoliosis
OMIM:615249	DAG1	1605	HP:0002421	Poor head control
OMIM:615249	POMGNT1	55624	HP:0001263	Global developmental delay
OMIM:615249	POMGNT1	55624	HP:0001250	Seizures
OMIM:615249	POMGNT1	55624	HP:0007663	Reduced visual acuity
OMIM:615249	POMGNT1	55624	HP:0001274	Agenesis of corpus callosum
OMIM:615249	POMGNT1	55624	HP:0000505	Visual impairment
OMIM:615249	POMGNT1	55624	HP:0000407	Sensorineural hearing impairment
OMIM:615249	POMGNT1	55624	HP:0000568	Microphthalmia
OMIM:615249	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:615249	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:615249	POMGNT1	55624	HP:0001319	Neonatal hypotonia
OMIM:615249	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:615249	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:615249	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	POMGNT1	55624	HP:0000589	Coloboma
OMIM:615249	POMGNT1	55624	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	POMGNT1	55624	HP:0002465	Poor speech
OMIM:615249	POMGNT1	55624	HP:0011968	Feeding difficulties
OMIM:615249	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:615249	POMGNT1	55624	HP:0001371	Flexion contracture
OMIM:615249	POMGNT1	55624	HP:0000518	Cataract
OMIM:615249	POMGNT1	55624	HP:0001090	Large eyes
OMIM:615249	POMGNT1	55624	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	POMGNT1	55624	HP:0000546	Retinal degeneration
OMIM:615249	POMGNT1	55624	HP:0002650	Scoliosis
OMIM:615249	POMGNT1	55624	HP:0002421	Poor head control
OMIM:615249	FKTN	2218	HP:0001263	Global developmental delay
OMIM:615249	FKTN	2218	HP:0001250	Seizures
OMIM:615249	FKTN	2218	HP:0007663	Reduced visual acuity
OMIM:615249	FKTN	2218	HP:0001274	Agenesis of corpus callosum
OMIM:615249	FKTN	2218	HP:0000505	Visual impairment
OMIM:615249	FKTN	2218	HP:0000407	Sensorineural hearing impairment
OMIM:615249	FKTN	2218	HP:0000568	Microphthalmia
OMIM:615249	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:615249	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:615249	FKTN	2218	HP:0001319	Neonatal hypotonia
OMIM:615249	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:615249	FKTN	2218	HP:0000252	Microcephaly
OMIM:615249	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	FKTN	2218	HP:0000589	Coloboma
OMIM:615249	FKTN	2218	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	FKTN	2218	HP:0002465	Poor speech
OMIM:615249	FKTN	2218	HP:0011968	Feeding difficulties
OMIM:615249	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:615249	FKTN	2218	HP:0001371	Flexion contracture
OMIM:615249	FKTN	2218	HP:0000518	Cataract
OMIM:615249	FKTN	2218	HP:0001090	Large eyes
OMIM:615249	FKTN	2218	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	FKTN	2218	HP:0000546	Retinal degeneration
OMIM:615249	FKTN	2218	HP:0002650	Scoliosis
OMIM:615249	FKTN	2218	HP:0002421	Poor head control
OMIM:615249	FKRP	79147	HP:0001263	Global developmental delay
OMIM:615249	FKRP	79147	HP:0001250	Seizures
OMIM:615249	FKRP	79147	HP:0007663	Reduced visual acuity
OMIM:615249	FKRP	79147	HP:0001274	Agenesis of corpus callosum
OMIM:615249	FKRP	79147	HP:0000505	Visual impairment
OMIM:615249	FKRP	79147	HP:0000407	Sensorineural hearing impairment
OMIM:615249	FKRP	79147	HP:0000568	Microphthalmia
OMIM:615249	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:615249	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:615249	FKRP	79147	HP:0001319	Neonatal hypotonia
OMIM:615249	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:615249	FKRP	79147	HP:0000252	Microcephaly
OMIM:615249	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	FKRP	79147	HP:0000589	Coloboma
OMIM:615249	FKRP	79147	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	FKRP	79147	HP:0002465	Poor speech
OMIM:615249	FKRP	79147	HP:0011968	Feeding difficulties
OMIM:615249	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:615249	FKRP	79147	HP:0001371	Flexion contracture
OMIM:615249	FKRP	79147	HP:0000518	Cataract
OMIM:615249	FKRP	79147	HP:0001090	Large eyes
OMIM:615249	FKRP	79147	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	FKRP	79147	HP:0000546	Retinal degeneration
OMIM:615249	FKRP	79147	HP:0002650	Scoliosis
OMIM:615249	FKRP	79147	HP:0002421	Poor head control
OMIM:615249	ISPD	729920	HP:0001263	Global developmental delay
OMIM:615249	ISPD	729920	HP:0001250	Seizures
OMIM:615249	ISPD	729920	HP:0007663	Reduced visual acuity
OMIM:615249	ISPD	729920	HP:0001274	Agenesis of corpus callosum
OMIM:615249	ISPD	729920	HP:0000505	Visual impairment
OMIM:615249	ISPD	729920	HP:0000407	Sensorineural hearing impairment
OMIM:615249	ISPD	729920	HP:0000568	Microphthalmia
OMIM:615249	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:615249	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:615249	ISPD	729920	HP:0001319	Neonatal hypotonia
OMIM:615249	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:615249	ISPD	729920	HP:0000252	Microcephaly
OMIM:615249	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	ISPD	729920	HP:0000589	Coloboma
OMIM:615249	ISPD	729920	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	ISPD	729920	HP:0002465	Poor speech
OMIM:615249	ISPD	729920	HP:0011968	Feeding difficulties
OMIM:615249	ISPD	729920	HP:0001321	Cerebellar hypoplasia
OMIM:615249	ISPD	729920	HP:0001371	Flexion contracture
OMIM:615249	ISPD	729920	HP:0000518	Cataract
OMIM:615249	ISPD	729920	HP:0001090	Large eyes
OMIM:615249	ISPD	729920	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	ISPD	729920	HP:0000546	Retinal degeneration
OMIM:615249	ISPD	729920	HP:0002650	Scoliosis
OMIM:615249	ISPD	729920	HP:0002421	Poor head control
OMIM:615249	B3GALNT2	148789	HP:0001263	Global developmental delay
OMIM:615249	B3GALNT2	148789	HP:0001250	Seizures
OMIM:615249	B3GALNT2	148789	HP:0007663	Reduced visual acuity
OMIM:615249	B3GALNT2	148789	HP:0001274	Agenesis of corpus callosum
OMIM:615249	B3GALNT2	148789	HP:0000505	Visual impairment
OMIM:615249	B3GALNT2	148789	HP:0000407	Sensorineural hearing impairment
OMIM:615249	B3GALNT2	148789	HP:0000568	Microphthalmia
OMIM:615249	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:615249	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:615249	B3GALNT2	148789	HP:0001319	Neonatal hypotonia
OMIM:615249	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:615249	B3GALNT2	148789	HP:0000252	Microcephaly
OMIM:615249	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	B3GALNT2	148789	HP:0000589	Coloboma
OMIM:615249	B3GALNT2	148789	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	B3GALNT2	148789	HP:0002465	Poor speech
OMIM:615249	B3GALNT2	148789	HP:0011968	Feeding difficulties
OMIM:615249	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:615249	B3GALNT2	148789	HP:0001371	Flexion contracture
OMIM:615249	B3GALNT2	148789	HP:0000518	Cataract
OMIM:615249	B3GALNT2	148789	HP:0001090	Large eyes
OMIM:615249	B3GALNT2	148789	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	B3GALNT2	148789	HP:0000546	Retinal degeneration
OMIM:615249	B3GALNT2	148789	HP:0002650	Scoliosis
OMIM:615249	B3GALNT2	148789	HP:0002421	Poor head control
OMIM:615249	POMT1	10585	HP:0001263	Global developmental delay
OMIM:615249	POMT1	10585	HP:0001250	Seizures
OMIM:615249	POMT1	10585	HP:0007663	Reduced visual acuity
OMIM:615249	POMT1	10585	HP:0001274	Agenesis of corpus callosum
OMIM:615249	POMT1	10585	HP:0000505	Visual impairment
OMIM:615249	POMT1	10585	HP:0000407	Sensorineural hearing impairment
OMIM:615249	POMT1	10585	HP:0000568	Microphthalmia
OMIM:615249	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:615249	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:615249	POMT1	10585	HP:0001319	Neonatal hypotonia
OMIM:615249	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:615249	POMT1	10585	HP:0000252	Microcephaly
OMIM:615249	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	POMT1	10585	HP:0000589	Coloboma
OMIM:615249	POMT1	10585	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	POMT1	10585	HP:0002465	Poor speech
OMIM:615249	POMT1	10585	HP:0011968	Feeding difficulties
OMIM:615249	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:615249	POMT1	10585	HP:0001371	Flexion contracture
OMIM:615249	POMT1	10585	HP:0000518	Cataract
OMIM:615249	POMT1	10585	HP:0001090	Large eyes
OMIM:615249	POMT1	10585	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	POMT1	10585	HP:0000546	Retinal degeneration
OMIM:615249	POMT1	10585	HP:0002650	Scoliosis
OMIM:615249	POMT1	10585	HP:0002421	Poor head control
OMIM:615249	TMEM5	10329	HP:0001263	Global developmental delay
OMIM:615249	TMEM5	10329	HP:0001250	Seizures
OMIM:615249	TMEM5	10329	HP:0007663	Reduced visual acuity
OMIM:615249	TMEM5	10329	HP:0001274	Agenesis of corpus callosum
OMIM:615249	TMEM5	10329	HP:0000505	Visual impairment
OMIM:615249	TMEM5	10329	HP:0000407	Sensorineural hearing impairment
OMIM:615249	TMEM5	10329	HP:0000568	Microphthalmia
OMIM:615249	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:615249	TMEM5	10329	HP:0000238	Hydrocephalus
OMIM:615249	TMEM5	10329	HP:0001319	Neonatal hypotonia
OMIM:615249	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:615249	TMEM5	10329	HP:0000252	Microcephaly
OMIM:615249	TMEM5	10329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	TMEM5	10329	HP:0000589	Coloboma
OMIM:615249	TMEM5	10329	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	TMEM5	10329	HP:0002465	Poor speech
OMIM:615249	TMEM5	10329	HP:0011968	Feeding difficulties
OMIM:615249	TMEM5	10329	HP:0001321	Cerebellar hypoplasia
OMIM:615249	TMEM5	10329	HP:0001371	Flexion contracture
OMIM:615249	TMEM5	10329	HP:0000518	Cataract
OMIM:615249	TMEM5	10329	HP:0001090	Large eyes
OMIM:615249	TMEM5	10329	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	TMEM5	10329	HP:0000546	Retinal degeneration
OMIM:615249	TMEM5	10329	HP:0002650	Scoliosis
OMIM:615249	TMEM5	10329	HP:0002421	Poor head control
OMIM:615249	POMGNT2	84892	HP:0001263	Global developmental delay
OMIM:615249	POMGNT2	84892	HP:0001250	Seizures
OMIM:615249	POMGNT2	84892	HP:0007663	Reduced visual acuity
OMIM:615249	POMGNT2	84892	HP:0001274	Agenesis of corpus callosum
OMIM:615249	POMGNT2	84892	HP:0000505	Visual impairment
OMIM:615249	POMGNT2	84892	HP:0000407	Sensorineural hearing impairment
OMIM:615249	POMGNT2	84892	HP:0000568	Microphthalmia
OMIM:615249	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:615249	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:615249	POMGNT2	84892	HP:0001319	Neonatal hypotonia
OMIM:615249	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:615249	POMGNT2	84892	HP:0000252	Microcephaly
OMIM:615249	POMGNT2	84892	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	POMGNT2	84892	HP:0000589	Coloboma
OMIM:615249	POMGNT2	84892	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	POMGNT2	84892	HP:0002465	Poor speech
OMIM:615249	POMGNT2	84892	HP:0011968	Feeding difficulties
OMIM:615249	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
OMIM:615249	POMGNT2	84892	HP:0001371	Flexion contracture
OMIM:615249	POMGNT2	84892	HP:0000518	Cataract
OMIM:615249	POMGNT2	84892	HP:0001090	Large eyes
OMIM:615249	POMGNT2	84892	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	POMGNT2	84892	HP:0000546	Retinal degeneration
OMIM:615249	POMGNT2	84892	HP:0002650	Scoliosis
OMIM:615249	POMGNT2	84892	HP:0002421	Poor head control
OMIM:615249	LARGE	9215	HP:0001263	Global developmental delay
OMIM:615249	LARGE	9215	HP:0001250	Seizures
OMIM:615249	LARGE	9215	HP:0007663	Reduced visual acuity
OMIM:615249	LARGE	9215	HP:0001274	Agenesis of corpus callosum
OMIM:615249	LARGE	9215	HP:0000505	Visual impairment
OMIM:615249	LARGE	9215	HP:0000407	Sensorineural hearing impairment
OMIM:615249	LARGE	9215	HP:0000568	Microphthalmia
OMIM:615249	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:615249	LARGE	9215	HP:0000238	Hydrocephalus
OMIM:615249	LARGE	9215	HP:0001319	Neonatal hypotonia
OMIM:615249	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:615249	LARGE	9215	HP:0000252	Microcephaly
OMIM:615249	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615249	LARGE	9215	HP:0000589	Coloboma
OMIM:615249	LARGE	9215	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615249	LARGE	9215	HP:0002465	Poor speech
OMIM:615249	LARGE	9215	HP:0011968	Feeding difficulties
OMIM:615249	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:615249	LARGE	9215	HP:0001371	Flexion contracture
OMIM:615249	LARGE	9215	HP:0000518	Cataract
OMIM:615249	LARGE	9215	HP:0001090	Large eyes
OMIM:615249	LARGE	9215	HP:0002365	Hypoplasia of the brainstem
OMIM:615249	LARGE	9215	HP:0000546	Retinal degeneration
OMIM:615249	LARGE	9215	HP:0002650	Scoliosis
OMIM:615249	LARGE	9215	HP:0002421	Poor head control
OMIM:610628	PROK2	60675	HP:0001513	Obesity
OMIM:610628	PROK2	60675	HP:0008734	Decreased testicular size
OMIM:610628	PROK2	60675	HP:0000458	Anosmia
OMIM:610628	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:610628	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:610628	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:610628	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	PROK2	60675	HP:0001250	Seizures
OMIM:610628	PROK2	60675	HP:0000054	Micropenis
OMIM:610628	PROK2	60675	HP:0000819	Diabetes mellitus
OMIM:610628	PROK2	60675	HP:0000939	Osteoporosis
OMIM:610628	PROKR2	128674	HP:0001513	Obesity
OMIM:610628	PROKR2	128674	HP:0008734	Decreased testicular size
OMIM:610628	PROKR2	128674	HP:0000458	Anosmia
OMIM:610628	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:610628	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:610628	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:610628	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	PROKR2	128674	HP:0001250	Seizures
OMIM:610628	PROKR2	128674	HP:0000054	Micropenis
OMIM:610628	PROKR2	128674	HP:0000819	Diabetes mellitus
OMIM:610628	PROKR2	128674	HP:0000939	Osteoporosis
OMIM:610628	SEMA3A	10371	HP:0001513	Obesity
OMIM:610628	SEMA3A	10371	HP:0008734	Decreased testicular size
OMIM:610628	SEMA3A	10371	HP:0000458	Anosmia
OMIM:610628	SEMA3A	10371	HP:0000028	Cryptorchidism
OMIM:610628	SEMA3A	10371	HP:0000786	Primary amenorrhea
OMIM:610628	SEMA3A	10371	HP:0000006	Autosomal dominant inheritance
OMIM:610628	SEMA3A	10371	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	SEMA3A	10371	HP:0001250	Seizures
OMIM:610628	SEMA3A	10371	HP:0000054	Micropenis
OMIM:610628	SEMA3A	10371	HP:0000819	Diabetes mellitus
OMIM:610628	SEMA3A	10371	HP:0000939	Osteoporosis
OMIM:610628	IL17RD	54756	HP:0001513	Obesity
OMIM:610628	IL17RD	54756	HP:0008734	Decreased testicular size
OMIM:610628	IL17RD	54756	HP:0000458	Anosmia
OMIM:610628	IL17RD	54756	HP:0000028	Cryptorchidism
OMIM:610628	IL17RD	54756	HP:0000786	Primary amenorrhea
OMIM:610628	IL17RD	54756	HP:0000006	Autosomal dominant inheritance
OMIM:610628	IL17RD	54756	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	IL17RD	54756	HP:0001250	Seizures
OMIM:610628	IL17RD	54756	HP:0000054	Micropenis
OMIM:610628	IL17RD	54756	HP:0000819	Diabetes mellitus
OMIM:610628	IL17RD	54756	HP:0000939	Osteoporosis
OMIM:610628	WDR11	55717	HP:0001513	Obesity
OMIM:610628	WDR11	55717	HP:0008734	Decreased testicular size
OMIM:610628	WDR11	55717	HP:0000458	Anosmia
OMIM:610628	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:610628	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:610628	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:610628	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	WDR11	55717	HP:0001250	Seizures
OMIM:610628	WDR11	55717	HP:0000054	Micropenis
OMIM:610628	WDR11	55717	HP:0000819	Diabetes mellitus
OMIM:610628	WDR11	55717	HP:0000939	Osteoporosis
OMIM:610628	KISS1	3814	HP:0001513	Obesity
OMIM:610628	KISS1	3814	HP:0008734	Decreased testicular size
OMIM:610628	KISS1	3814	HP:0000458	Anosmia
OMIM:610628	KISS1	3814	HP:0000028	Cryptorchidism
OMIM:610628	KISS1	3814	HP:0000786	Primary amenorrhea
OMIM:610628	KISS1	3814	HP:0000006	Autosomal dominant inheritance
OMIM:610628	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	KISS1	3814	HP:0001250	Seizures
OMIM:610628	KISS1	3814	HP:0000054	Micropenis
OMIM:610628	KISS1	3814	HP:0000819	Diabetes mellitus
OMIM:610628	KISS1	3814	HP:0000939	Osteoporosis
OMIM:610628	SOX10	6663	HP:0001513	Obesity
OMIM:610628	SOX10	6663	HP:0008734	Decreased testicular size
OMIM:610628	SOX10	6663	HP:0000458	Anosmia
OMIM:610628	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:610628	SOX10	6663	HP:0000786	Primary amenorrhea
OMIM:610628	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:610628	SOX10	6663	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	SOX10	6663	HP:0001250	Seizures
OMIM:610628	SOX10	6663	HP:0000054	Micropenis
OMIM:610628	SOX10	6663	HP:0000819	Diabetes mellitus
OMIM:610628	SOX10	6663	HP:0000939	Osteoporosis
OMIM:610628	FEZF1	389549	HP:0001513	Obesity
OMIM:610628	FEZF1	389549	HP:0008734	Decreased testicular size
OMIM:610628	FEZF1	389549	HP:0000458	Anosmia
OMIM:610628	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:610628	FEZF1	389549	HP:0000786	Primary amenorrhea
OMIM:610628	FEZF1	389549	HP:0000006	Autosomal dominant inheritance
OMIM:610628	FEZF1	389549	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	FEZF1	389549	HP:0001250	Seizures
OMIM:610628	FEZF1	389549	HP:0000054	Micropenis
OMIM:610628	FEZF1	389549	HP:0000819	Diabetes mellitus
OMIM:610628	FEZF1	389549	HP:0000939	Osteoporosis
OMIM:610628	GNRH1	2796	HP:0001513	Obesity
OMIM:610628	GNRH1	2796	HP:0008734	Decreased testicular size
OMIM:610628	GNRH1	2796	HP:0000458	Anosmia
OMIM:610628	GNRH1	2796	HP:0000028	Cryptorchidism
OMIM:610628	GNRH1	2796	HP:0000786	Primary amenorrhea
OMIM:610628	GNRH1	2796	HP:0000006	Autosomal dominant inheritance
OMIM:610628	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	GNRH1	2796	HP:0001250	Seizures
OMIM:610628	GNRH1	2796	HP:0000054	Micropenis
OMIM:610628	GNRH1	2796	HP:0000819	Diabetes mellitus
OMIM:610628	GNRH1	2796	HP:0000939	Osteoporosis
OMIM:610628	FGF8	2253	HP:0001513	Obesity
OMIM:610628	FGF8	2253	HP:0008734	Decreased testicular size
OMIM:610628	FGF8	2253	HP:0000458	Anosmia
OMIM:610628	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:610628	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:610628	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:610628	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	FGF8	2253	HP:0001250	Seizures
OMIM:610628	FGF8	2253	HP:0000054	Micropenis
OMIM:610628	FGF8	2253	HP:0000819	Diabetes mellitus
OMIM:610628	FGF8	2253	HP:0000939	Osteoporosis
OMIM:610628	GNRHR	2798	HP:0001513	Obesity
OMIM:610628	GNRHR	2798	HP:0008734	Decreased testicular size
OMIM:610628	GNRHR	2798	HP:0000458	Anosmia
OMIM:610628	GNRHR	2798	HP:0000028	Cryptorchidism
OMIM:610628	GNRHR	2798	HP:0000786	Primary amenorrhea
OMIM:610628	GNRHR	2798	HP:0000006	Autosomal dominant inheritance
OMIM:610628	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	GNRHR	2798	HP:0001250	Seizures
OMIM:610628	GNRHR	2798	HP:0000054	Micropenis
OMIM:610628	GNRHR	2798	HP:0000819	Diabetes mellitus
OMIM:610628	GNRHR	2798	HP:0000939	Osteoporosis
OMIM:610628	ANOS1	3730	HP:0001513	Obesity
OMIM:610628	ANOS1	3730	HP:0008734	Decreased testicular size
OMIM:610628	ANOS1	3730	HP:0000458	Anosmia
OMIM:610628	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:610628	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:610628	ANOS1	3730	HP:0000006	Autosomal dominant inheritance
OMIM:610628	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	ANOS1	3730	HP:0001250	Seizures
OMIM:610628	ANOS1	3730	HP:0000054	Micropenis
OMIM:610628	ANOS1	3730	HP:0000819	Diabetes mellitus
OMIM:610628	ANOS1	3730	HP:0000939	Osteoporosis
OMIM:610628	TAC3	6866	HP:0001513	Obesity
OMIM:610628	TAC3	6866	HP:0008734	Decreased testicular size
OMIM:610628	TAC3	6866	HP:0000458	Anosmia
OMIM:610628	TAC3	6866	HP:0000028	Cryptorchidism
OMIM:610628	TAC3	6866	HP:0000786	Primary amenorrhea
OMIM:610628	TAC3	6866	HP:0000006	Autosomal dominant inheritance
OMIM:610628	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	TAC3	6866	HP:0001250	Seizures
OMIM:610628	TAC3	6866	HP:0000054	Micropenis
OMIM:610628	TAC3	6866	HP:0000819	Diabetes mellitus
OMIM:610628	TAC3	6866	HP:0000939	Osteoporosis
OMIM:610628	HS6ST1	9394	HP:0001513	Obesity
OMIM:610628	HS6ST1	9394	HP:0008734	Decreased testicular size
OMIM:610628	HS6ST1	9394	HP:0000458	Anosmia
OMIM:610628	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:610628	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:610628	HS6ST1	9394	HP:0000006	Autosomal dominant inheritance
OMIM:610628	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	HS6ST1	9394	HP:0001250	Seizures
OMIM:610628	HS6ST1	9394	HP:0000054	Micropenis
OMIM:610628	HS6ST1	9394	HP:0000819	Diabetes mellitus
OMIM:610628	HS6ST1	9394	HP:0000939	Osteoporosis
OMIM:610628	CHD7	55636	HP:0001513	Obesity
OMIM:610628	CHD7	55636	HP:0008734	Decreased testicular size
OMIM:610628	CHD7	55636	HP:0000458	Anosmia
OMIM:610628	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:610628	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:610628	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:610628	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	CHD7	55636	HP:0001250	Seizures
OMIM:610628	CHD7	55636	HP:0000054	Micropenis
OMIM:610628	CHD7	55636	HP:0000819	Diabetes mellitus
OMIM:610628	CHD7	55636	HP:0000939	Osteoporosis
OMIM:610628	FGFR1	2260	HP:0001513	Obesity
OMIM:610628	FGFR1	2260	HP:0008734	Decreased testicular size
OMIM:610628	FGFR1	2260	HP:0000458	Anosmia
OMIM:610628	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:610628	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:610628	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:610628	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	FGFR1	2260	HP:0001250	Seizures
OMIM:610628	FGFR1	2260	HP:0000054	Micropenis
OMIM:610628	FGFR1	2260	HP:0000819	Diabetes mellitus
OMIM:610628	FGFR1	2260	HP:0000939	Osteoporosis
OMIM:610628	HESX1	8820	HP:0001513	Obesity
OMIM:610628	HESX1	8820	HP:0008734	Decreased testicular size
OMIM:610628	HESX1	8820	HP:0000458	Anosmia
OMIM:610628	HESX1	8820	HP:0000028	Cryptorchidism
OMIM:610628	HESX1	8820	HP:0000786	Primary amenorrhea
OMIM:610628	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:610628	HESX1	8820	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	HESX1	8820	HP:0001250	Seizures
OMIM:610628	HESX1	8820	HP:0000054	Micropenis
OMIM:610628	HESX1	8820	HP:0000819	Diabetes mellitus
OMIM:610628	HESX1	8820	HP:0000939	Osteoporosis
OMIM:610628	TACR3	6870	HP:0001513	Obesity
OMIM:610628	TACR3	6870	HP:0008734	Decreased testicular size
OMIM:610628	TACR3	6870	HP:0000458	Anosmia
OMIM:610628	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:610628	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:610628	TACR3	6870	HP:0000006	Autosomal dominant inheritance
OMIM:610628	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	TACR3	6870	HP:0001250	Seizures
OMIM:610628	TACR3	6870	HP:0000054	Micropenis
OMIM:610628	TACR3	6870	HP:0000819	Diabetes mellitus
OMIM:610628	TACR3	6870	HP:0000939	Osteoporosis
OMIM:610628	FGF17	8822	HP:0001513	Obesity
OMIM:610628	FGF17	8822	HP:0008734	Decreased testicular size
OMIM:610628	FGF17	8822	HP:0000458	Anosmia
OMIM:610628	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:610628	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:610628	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:610628	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	FGF17	8822	HP:0001250	Seizures
OMIM:610628	FGF17	8822	HP:0000054	Micropenis
OMIM:610628	FGF17	8822	HP:0000819	Diabetes mellitus
OMIM:610628	FGF17	8822	HP:0000939	Osteoporosis
OMIM:610628	FLRT3	23767	HP:0001513	Obesity
OMIM:610628	FLRT3	23767	HP:0008734	Decreased testicular size
OMIM:610628	FLRT3	23767	HP:0000458	Anosmia
OMIM:610628	FLRT3	23767	HP:0000028	Cryptorchidism
OMIM:610628	FLRT3	23767	HP:0000786	Primary amenorrhea
OMIM:610628	FLRT3	23767	HP:0000006	Autosomal dominant inheritance
OMIM:610628	FLRT3	23767	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	FLRT3	23767	HP:0001250	Seizures
OMIM:610628	FLRT3	23767	HP:0000054	Micropenis
OMIM:610628	FLRT3	23767	HP:0000819	Diabetes mellitus
OMIM:610628	FLRT3	23767	HP:0000939	Osteoporosis
OMIM:610628	DUSP6	1848	HP:0001513	Obesity
OMIM:610628	DUSP6	1848	HP:0008734	Decreased testicular size
OMIM:610628	DUSP6	1848	HP:0000458	Anosmia
OMIM:610628	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:610628	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:610628	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:610628	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	DUSP6	1848	HP:0001250	Seizures
OMIM:610628	DUSP6	1848	HP:0000054	Micropenis
OMIM:610628	DUSP6	1848	HP:0000819	Diabetes mellitus
OMIM:610628	DUSP6	1848	HP:0000939	Osteoporosis
OMIM:610628	SPRY4	81848	HP:0001513	Obesity
OMIM:610628	SPRY4	81848	HP:0008734	Decreased testicular size
OMIM:610628	SPRY4	81848	HP:0000458	Anosmia
OMIM:610628	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:610628	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:610628	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:610628	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	SPRY4	81848	HP:0001250	Seizures
OMIM:610628	SPRY4	81848	HP:0000054	Micropenis
OMIM:610628	SPRY4	81848	HP:0000819	Diabetes mellitus
OMIM:610628	SPRY4	81848	HP:0000939	Osteoporosis
OMIM:610628	KISS1R	84634	HP:0001513	Obesity
OMIM:610628	KISS1R	84634	HP:0008734	Decreased testicular size
OMIM:610628	KISS1R	84634	HP:0000458	Anosmia
OMIM:610628	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:610628	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:610628	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:610628	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	KISS1R	84634	HP:0001250	Seizures
OMIM:610628	KISS1R	84634	HP:0000054	Micropenis
OMIM:610628	KISS1R	84634	HP:0000819	Diabetes mellitus
OMIM:610628	KISS1R	84634	HP:0000939	Osteoporosis
OMIM:610628	NSMF	26012	HP:0001513	Obesity
OMIM:610628	NSMF	26012	HP:0008734	Decreased testicular size
OMIM:610628	NSMF	26012	HP:0000458	Anosmia
OMIM:610628	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:610628	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:610628	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:610628	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610628	NSMF	26012	HP:0001250	Seizures
OMIM:610628	NSMF	26012	HP:0000054	Micropenis
OMIM:610628	NSMF	26012	HP:0000819	Diabetes mellitus
OMIM:610628	NSMF	26012	HP:0000939	Osteoporosis
OMIM:304120	FLNA	2316	HP:0000494	Downslanted palpebral fissures
OMIM:304120	FLNA	2316	HP:0001423	X-linked dominant inheritance
OMIM:304120	FLNA	2316	HP:0004493	Craniofacial hyperostosis
OMIM:304120	FLNA	2316	HP:0002991	Abnormality of the fibula
OMIM:304120	FLNA	2316	HP:0000047	Hypospadias
OMIM:304120	FLNA	2316	HP:0001539	Omphalocele
OMIM:304120	FLNA	2316	HP:0001671	Abnormality of the cardiac septa
OMIM:304120	FLNA	2316	HP:0002007	Frontal bossing
OMIM:304120	FLNA	2316	HP:0009778	Short thumb
OMIM:304120	FLNA	2316	HP:0001841	Preaxial foot polydactyly
OMIM:304120	FLNA	2316	HP:0002878	Respiratory failure
OMIM:304120	FLNA	2316	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:304120	FLNA	2316	HP:0002645	Wormian bones
OMIM:304120	FLNA	2316	HP:0005048	Synostosis of carpal bones
OMIM:304120	FLNA	2316	HP:0010109	Short hallux
OMIM:304120	FLNA	2316	HP:0000272	Malar flattening
OMIM:304120	FLNA	2316	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:304120	FLNA	2316	HP:0006487	Bowing of the long bones
OMIM:304120	FLNA	2316	HP:0010049	Short metacarpal
OMIM:304120	FLNA	2316	HP:0100627	Displacement of the external urethral meatus
OMIM:304120	FLNA	2316	HP:0000772	Abnormality of the ribs
OMIM:304120	FLNA	2316	HP:0000946	Hypoplastic ilia
OMIM:304120	FLNA	2316	HP:0003826	Stillbirth
OMIM:304120	FLNA	2316	HP:0100543	Cognitive impairment
OMIM:304120	FLNA	2316	HP:0011304	Broad thumb
OMIM:304120	FLNA	2316	HP:0008897	Postnatal growth retardation
OMIM:304120	FLNA	2316	HP:0003422	Vertebral segmentation defect
OMIM:304120	FLNA	2316	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:304120	FLNA	2316	HP:0011001	Increased bone mineral density
OMIM:304120	FLNA	2316	HP:0005280	Depressed nasal bridge
OMIM:304120	FLNA	2316	HP:0003042	Elbow dislocation
OMIM:304120	FLNA	2316	HP:0010935	Abnormality of the upper urinary tract
OMIM:304120	FLNA	2316	HP:0000347	Micrognathia
OMIM:304120	FLNA	2316	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:304120	FLNA	2316	HP:0000162	Glossoptosis
OMIM:304120	FLNA	2316	HP:0000365	Hearing impairment
OMIM:304120	FLNA	2316	HP:0001770	Toe syndactyly
OMIM:304120	FLNA	2316	HP:0000774	Narrow chest
OMIM:304120	FLNA	2316	HP:0000366	Abnormality of the nose
OMIM:304120	FLNA	2316	HP:0000358	Posteriorly rotated ears
OMIM:304120	FLNA	2316	HP:0011220	Prominent forehead
OMIM:304120	FLNA	2316	HP:0008368	Tarsal synostosis
OMIM:304120	FLNA	2316	HP:0001249	Intellectual disability
OMIM:304120	FLNA	2316	HP:0001374	Congenital hip dislocation
OMIM:304120	FLNA	2316	HP:0000175	Cleft palate
OMIM:304120	FLNA	2316	HP:0001838	Rocker bottom foot
OMIM:304120	FLNA	2316	HP:0000316	Hypertelorism
OMIM:304120	FLNA	2316	HP:0000126	Hydronephrosis
OMIM:304120	FLNA	2316	HP:0001162	Postaxial hand polydactyly
OMIM:304120	FLNA	2316	HP:0002982	Tibial bowing
OMIM:304120	FLNA	2316	HP:0002084	Encephalocele
OMIM:304120	FLNA	2316	HP:0000767	Pectus excavatum
OMIM:304120	FLNA	2316	HP:0000160	Narrow mouth
OMIM:304120	FLNA	2316	HP:0002980	Femoral bowing
OMIM:304120	FLNA	2316	HP:0000369	Low-set ears
OMIM:304120	FLNA	2316	HP:0004322	Short stature
OMIM:304120	FLNA	2316	HP:0100490	Camptodactyly of finger
OMIM:304120	FLNA	2316	HP:0000405	Conductive hearing impairment
OMIM:304120	FLNA	2316	HP:0000028	Cryptorchidism
OMIM:304120	FLNA	2316	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:304120	FLNA	2316	HP:0000773	Short ribs
OMIM:304120	FLNA	2316	HP:0002650	Scoliosis
OMIM:304120	FLNA	2316	HP:0002986	Radial bowing
OMIM:304120	FLNA	2316	HP:0010743	Short metatarsal
OMIM:304120	FLNA	2316	HP:0000336	Prominent supraorbital ridges
OMIM:304120	FLNA	2316	HP:0000238	Hydrocephalus
OMIM:304120	FLNA	2316	HP:0000926	Platyspondyly
OMIM:304120	FLNA	2316	HP:0011800	Hypoplasia of midface
OMIM:304120	FLNA	2316	HP:0009804	Reduced number of teeth
OMIM:304120	FLNA	2316	HP:0001156	Brachydactyly syndrome
OMIM:304120	FLNA	2316	HP:0010055	Broad hallux
OMIM:128800	HOXA2	3199	HP:0000598	Abnormality of the ear
OMIM:128800	HOXA2	3199	HP:0000006	Autosomal dominant inheritance
OMIM:143200	VCAN	1462	HP:0000501	Glaucoma
OMIM:143200	VCAN	1462	HP:0000655	Vitreoretinal degeneration
OMIM:143200	VCAN	1462	HP:0000518	Cataract
OMIM:143200	VCAN	1462	HP:0000006	Autosomal dominant inheritance
OMIM:143200	VCAN	1462	HP:0000572	Visual loss
OMIM:143200	VCAN	1462	HP:0000545	Myopia
OMIM:143200	VCAN	1462	HP:0000533	Chorioretinal atrophy
OMIM:143200	VCAN	1462	HP:0000648	Optic atrophy
OMIM:143200	VCAN	1462	HP:0007722	Retinal pigment epithelial atrophy
OMIM:143200	VCAN	1462	HP:0001123	Visual field defect
OMIM:314580	ZC4H2	55906	HP:0003307	Hyperlordosis
OMIM:314580	ZC4H2	55906	HP:0012448	Delayed myelination
OMIM:314580	ZC4H2	55906	HP:0001762	Talipes equinovarus
OMIM:314580	ZC4H2	55906	HP:0000218	High palate
OMIM:314580	ZC4H2	55906	HP:0000508	Ptosis
OMIM:314580	ZC4H2	55906	HP:0001558	Decreased fetal movement
OMIM:314580	ZC4H2	55906	HP:0002808	Kyphosis
OMIM:314580	ZC4H2	55906	HP:0000750	Delayed speech and language development
OMIM:314580	ZC4H2	55906	HP:0002186	Apraxia
OMIM:314580	ZC4H2	55906	HP:0000470	Short neck
OMIM:314580	ZC4H2	55906	HP:0100022	Abnormality of movement
OMIM:314580	ZC4H2	55906	HP:0001250	Seizures
OMIM:314580	ZC4H2	55906	HP:0100543	Cognitive impairment
OMIM:314580	ZC4H2	55906	HP:0002827	Hip dislocation
OMIM:314580	ZC4H2	55906	HP:0002059	Cerebral atrophy
OMIM:314580	ZC4H2	55906	HP:0010806	U-Shaped upper lip vermilion
OMIM:314580	ZC4H2	55906	HP:0000343	Long philtrum
OMIM:314580	ZC4H2	55906	HP:0012385	Camptodactyly
OMIM:314580	ZC4H2	55906	HP:0000347	Micrognathia
OMIM:314580	ZC4H2	55906	HP:0009890	High anterior hairline
OMIM:314580	ZC4H2	55906	HP:0000597	Ophthalmoparesis
OMIM:314580	ZC4H2	55906	HP:0001257	Spasticity
OMIM:314580	ZC4H2	55906	HP:0003577	Congenital onset
OMIM:314580	ZC4H2	55906	HP:0004322	Short stature
OMIM:314580	ZC4H2	55906	HP:0000657	Oculomotor apraxia
OMIM:314580	ZC4H2	55906	HP:0000774	Narrow chest
OMIM:314580	ZC4H2	55906	HP:0002167	Neurological speech impairment
OMIM:314580	ZC4H2	55906	HP:0000486	Strabismus
OMIM:314580	ZC4H2	55906	HP:0001419	X-linked recessive inheritance
OMIM:314580	ZC4H2	55906	HP:0011968	Feeding difficulties
OMIM:314580	ZC4H2	55906	HP:0001256	Intellectual disability, mild
OMIM:314580	ZC4H2	55906	HP:0003202	Skeletal muscle atrophy
OMIM:314580	ZC4H2	55906	HP:0001252	Muscular hypotonia
OMIM:314580	ZC4H2	55906	HP:0003693	Distal amyotrophy
OMIM:314580	ZC4H2	55906	HP:0010628	Facial palsy
OMIM:314580	ZC4H2	55906	HP:0002804	Arthrogryposis multiplex congenita
OMIM:314580	ZC4H2	55906	HP:0002650	Scoliosis
OMIM:314580	ZC4H2	55906	HP:0004209	Clinodactyly of the 5th finger
OMIM:314580	ZC4H2	55906	HP:0000369	Low-set ears
OMIM:314580	ZC4H2	55906	HP:0002307	Drooling
OMIM:314580	ZC4H2	55906	HP:0001284	Areflexia
OMIM:314580	ZC4H2	55906	HP:0000278	Retrognathia
OMIM:314580	ZC4H2	55906	HP:0000319	Smooth philtrum
OMIM:314580	ZC4H2	55906	HP:0002104	Apnea
OMIM:314580	ZC4H2	55906	HP:0001376	Limitation of joint mobility
OMIM:314580	ZC4H2	55906	HP:0000582	Upslanted palpebral fissure
OMIM:314580	ZC4H2	55906	HP:0001263	Global developmental delay
OMIM:314580	ZC4H2	55906	HP:0009623	Proximal placement of thumb
OMIM:314580	ZC4H2	55906	HP:0001332	Dystonia
OMIM:300071	SLC24A1	9187	HP:0001417	X-linked inheritance
OMIM:300071	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:300071	SLC24A1	9187	HP:0007663	Reduced visual acuity
OMIM:300071	SLC24A1	9187	HP:0000505	Visual impairment
OMIM:300071	SLC24A1	9187	HP:0001425	Heterogeneous
OMIM:300071	GRM6	2916	HP:0001417	X-linked inheritance
OMIM:300071	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:300071	GRM6	2916	HP:0007663	Reduced visual acuity
OMIM:300071	GRM6	2916	HP:0000505	Visual impairment
OMIM:300071	GRM6	2916	HP:0001425	Heterogeneous
OMIM:300071	PDE6B	5158	HP:0001417	X-linked inheritance
OMIM:300071	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:300071	PDE6B	5158	HP:0007663	Reduced visual acuity
OMIM:300071	PDE6B	5158	HP:0000505	Visual impairment
OMIM:300071	PDE6B	5158	HP:0001425	Heterogeneous
OMIM:300071	CACNA1F	778	HP:0001417	X-linked inheritance
OMIM:300071	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:300071	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:300071	CACNA1F	778	HP:0000505	Visual impairment
OMIM:300071	CACNA1F	778	HP:0001425	Heterogeneous
OMIM:300071	LRIT3	345193	HP:0001417	X-linked inheritance
OMIM:300071	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:300071	LRIT3	345193	HP:0007663	Reduced visual acuity
OMIM:300071	LRIT3	345193	HP:0000505	Visual impairment
OMIM:300071	LRIT3	345193	HP:0001425	Heterogeneous
OMIM:300071	CABP4	57010	HP:0001417	X-linked inheritance
OMIM:300071	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:300071	CABP4	57010	HP:0007663	Reduced visual acuity
OMIM:300071	CABP4	57010	HP:0000505	Visual impairment
OMIM:300071	CABP4	57010	HP:0001425	Heterogeneous
OMIM:300071	CACNA2D4	93589	HP:0001417	X-linked inheritance
OMIM:300071	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:300071	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:300071	CACNA2D4	93589	HP:0000505	Visual impairment
OMIM:300071	CACNA2D4	93589	HP:0001425	Heterogeneous
OMIM:300071	TRPM1	4308	HP:0001417	X-linked inheritance
OMIM:300071	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:300071	TRPM1	4308	HP:0007663	Reduced visual acuity
OMIM:300071	TRPM1	4308	HP:0000505	Visual impairment
OMIM:300071	TRPM1	4308	HP:0001425	Heterogeneous
OMIM:300071	GPR179	440435	HP:0001417	X-linked inheritance
OMIM:300071	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:300071	GPR179	440435	HP:0007663	Reduced visual acuity
OMIM:300071	GPR179	440435	HP:0000505	Visual impairment
OMIM:300071	GPR179	440435	HP:0001425	Heterogeneous
OMIM:300071	SAG	6295	HP:0001417	X-linked inheritance
OMIM:300071	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:300071	SAG	6295	HP:0007663	Reduced visual acuity
OMIM:300071	SAG	6295	HP:0000505	Visual impairment
OMIM:300071	SAG	6295	HP:0001425	Heterogeneous
OMIM:300071	RHO	6010	HP:0001417	X-linked inheritance
OMIM:300071	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:300071	RHO	6010	HP:0007663	Reduced visual acuity
OMIM:300071	RHO	6010	HP:0000505	Visual impairment
OMIM:300071	RHO	6010	HP:0001425	Heterogeneous
OMIM:300071	NYX	60506	HP:0001417	X-linked inheritance
OMIM:300071	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:300071	NYX	60506	HP:0007663	Reduced visual acuity
OMIM:300071	NYX	60506	HP:0000505	Visual impairment
OMIM:300071	NYX	60506	HP:0001425	Heterogeneous
OMIM:300071	GNAT1	2779	HP:0001417	X-linked inheritance
OMIM:300071	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:300071	GNAT1	2779	HP:0007663	Reduced visual acuity
OMIM:300071	GNAT1	2779	HP:0000505	Visual impairment
OMIM:300071	GNAT1	2779	HP:0001425	Heterogeneous
OMIM:300071	GRK1	6011	HP:0001417	X-linked inheritance
OMIM:300071	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:300071	GRK1	6011	HP:0007663	Reduced visual acuity
OMIM:300071	GRK1	6011	HP:0000505	Visual impairment
OMIM:300071	GRK1	6011	HP:0001425	Heterogeneous
ORPHANET:79152	FDPS	2224	HP:0000989	Pruritus
ORPHANET:79152	FDPS	2224	HP:0000992	Cutaneous photosensitivity
ORPHANET:79152	FDPS	2224	HP:0000966	Hypohidrosis
ORPHANET:79152	FDPS	2224	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:79152	FDPS	2224	HP:0008069	Neoplasm of the skin
ORPHANET:79152	FDPS	2224	HP:0000962	Hyperkeratosis
ORPHANET:79152	MVD	4597	HP:0000989	Pruritus
ORPHANET:79152	MVD	4597	HP:0000992	Cutaneous photosensitivity
ORPHANET:79152	MVD	4597	HP:0000966	Hypohidrosis
ORPHANET:79152	MVD	4597	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:79152	MVD	4597	HP:0008069	Neoplasm of the skin
ORPHANET:79152	MVD	4597	HP:0000962	Hyperkeratosis
ORPHANET:79152	MVK	4598	HP:0000989	Pruritus
ORPHANET:79152	MVK	4598	HP:0000992	Cutaneous photosensitivity
ORPHANET:79152	MVK	4598	HP:0000966	Hypohidrosis
ORPHANET:79152	MVK	4598	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:79152	MVK	4598	HP:0008069	Neoplasm of the skin
ORPHANET:79152	MVK	4598	HP:0000962	Hyperkeratosis
ORPHANET:79152	SLC17A9	63910	HP:0000989	Pruritus
ORPHANET:79152	SLC17A9	63910	HP:0000992	Cutaneous photosensitivity
ORPHANET:79152	SLC17A9	63910	HP:0000966	Hypohidrosis
ORPHANET:79152	SLC17A9	63910	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:79152	SLC17A9	63910	HP:0008069	Neoplasm of the skin
ORPHANET:79152	SLC17A9	63910	HP:0000962	Hyperkeratosis
OMIM:604370	BRCA1	672	HP:0001426	Multifactorial inheritance
OMIM:604370	BRCA1	672	HP:0003002	Breast carcinoma
OMIM:604370	BRCA1	672	HP:0000006	Autosomal dominant inheritance
OMIM:604370	PTEN	5728	HP:0001426	Multifactorial inheritance
OMIM:604370	PTEN	5728	HP:0003002	Breast carcinoma
OMIM:604370	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:604370	RAD51	5888	HP:0001426	Multifactorial inheritance
OMIM:604370	RAD51	5888	HP:0003002	Breast carcinoma
OMIM:604370	RAD51	5888	HP:0000006	Autosomal dominant inheritance
OMIM:604370	CHEK2	11200	HP:0001426	Multifactorial inheritance
OMIM:604370	CHEK2	11200	HP:0003002	Breast carcinoma
OMIM:604370	CHEK2	11200	HP:0000006	Autosomal dominant inheritance
OMIM:604370	RAD51C	5889	HP:0001426	Multifactorial inheritance
OMIM:604370	RAD51C	5889	HP:0003002	Breast carcinoma
OMIM:604370	RAD51C	5889	HP:0000006	Autosomal dominant inheritance
OMIM:604370	BRCA2	675	HP:0001426	Multifactorial inheritance
OMIM:604370	BRCA2	675	HP:0003002	Breast carcinoma
OMIM:604370	BRCA2	675	HP:0000006	Autosomal dominant inheritance
OMIM:604370	BARD1	580	HP:0001426	Multifactorial inheritance
OMIM:604370	BARD1	580	HP:0003002	Breast carcinoma
OMIM:604370	BARD1	580	HP:0000006	Autosomal dominant inheritance
OMIM:604370	RAD51D	5892	HP:0001426	Multifactorial inheritance
OMIM:604370	RAD51D	5892	HP:0003002	Breast carcinoma
OMIM:604370	RAD51D	5892	HP:0000006	Autosomal dominant inheritance
OMIM:604370	MRE11A	4361	HP:0001426	Multifactorial inheritance
OMIM:604370	MRE11A	4361	HP:0003002	Breast carcinoma
OMIM:604370	MRE11A	4361	HP:0000006	Autosomal dominant inheritance
OMIM:604370	SLC22A18	5002	HP:0001426	Multifactorial inheritance
OMIM:604370	SLC22A18	5002	HP:0003002	Breast carcinoma
OMIM:604370	SLC22A18	5002	HP:0000006	Autosomal dominant inheritance
OMIM:604370	NBN	4683	HP:0001426	Multifactorial inheritance
OMIM:604370	NBN	4683	HP:0003002	Breast carcinoma
OMIM:604370	NBN	4683	HP:0000006	Autosomal dominant inheritance
OMIM:604370	PPM1D	8493	HP:0001426	Multifactorial inheritance
OMIM:604370	PPM1D	8493	HP:0003002	Breast carcinoma
OMIM:604370	PPM1D	8493	HP:0000006	Autosomal dominant inheritance
OMIM:604370	PALB2	79728	HP:0001426	Multifactorial inheritance
OMIM:604370	PALB2	79728	HP:0003002	Breast carcinoma
OMIM:604370	PALB2	79728	HP:0000006	Autosomal dominant inheritance
OMIM:604370	KLLN	100144748	HP:0001426	Multifactorial inheritance
OMIM:604370	KLLN	100144748	HP:0003002	Breast carcinoma
OMIM:604370	KLLN	100144748	HP:0000006	Autosomal dominant inheritance
OMIM:604370	TP53	7157	HP:0001426	Multifactorial inheritance
OMIM:604370	TP53	7157	HP:0003002	Breast carcinoma
OMIM:604370	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:604370	RAD54L	8438	HP:0001426	Multifactorial inheritance
OMIM:604370	RAD54L	8438	HP:0003002	Breast carcinoma
OMIM:604370	RAD54L	8438	HP:0000006	Autosomal dominant inheritance
OMIM:604370	BRIP1	83990	HP:0001426	Multifactorial inheritance
OMIM:604370	BRIP1	83990	HP:0003002	Breast carcinoma
OMIM:604370	BRIP1	83990	HP:0000006	Autosomal dominant inheritance
OMIM:604370	XRCC2	7516	HP:0001426	Multifactorial inheritance
OMIM:604370	XRCC2	7516	HP:0003002	Breast carcinoma
OMIM:604370	XRCC2	7516	HP:0000006	Autosomal dominant inheritance
OMIM:604370	RAD50	10111	HP:0001426	Multifactorial inheritance
OMIM:604370	RAD50	10111	HP:0003002	Breast carcinoma
OMIM:604370	RAD50	10111	HP:0000006	Autosomal dominant inheritance
OMIM:607432	PAFAH1B1	5048	HP:0002500	Abnormality of the cerebral white matter
OMIM:607432	PAFAH1B1	5048	HP:0008936	Muscular hypotonia of the trunk
OMIM:607432	PAFAH1B1	5048	HP:0001302	Pachygyria
OMIM:607432	PAFAH1B1	5048	HP:0002119	Ventriculomegaly
OMIM:607432	PAFAH1B1	5048	HP:0003828	Variable expressivity
OMIM:607432	PAFAH1B1	5048	HP:0001263	Global developmental delay
OMIM:607432	PAFAH1B1	5048	HP:0003745	Sporadic
OMIM:607432	PAFAH1B1	5048	HP:0001321	Cerebellar hypoplasia
OMIM:607432	PAFAH1B1	5048	HP:0002282	Heterotopia
OMIM:607432	PAFAH1B1	5048	HP:0001249	Intellectual disability
OMIM:607432	PAFAH1B1	5048	HP:0001339	Lissencephaly
OMIM:607432	PAFAH1B1	5048	HP:0002365	Hypoplasia of the brainstem
OMIM:607432	PAFAH1B1	5048	HP:0005484	Postnatal microcephaly
OMIM:607432	PAFAH1B1	5048	HP:0001250	Seizures
OMIM:607432	PAFAH1B1	5048	HP:0001285	Spastic tetraparesis
OMIM:607432	DCX	1641	HP:0002500	Abnormality of the cerebral white matter
OMIM:607432	DCX	1641	HP:0008936	Muscular hypotonia of the trunk
OMIM:607432	DCX	1641	HP:0001302	Pachygyria
OMIM:607432	DCX	1641	HP:0002119	Ventriculomegaly
OMIM:607432	DCX	1641	HP:0003828	Variable expressivity
OMIM:607432	DCX	1641	HP:0001263	Global developmental delay
OMIM:607432	DCX	1641	HP:0003745	Sporadic
OMIM:607432	DCX	1641	HP:0001321	Cerebellar hypoplasia
OMIM:607432	DCX	1641	HP:0002282	Heterotopia
OMIM:607432	DCX	1641	HP:0001249	Intellectual disability
OMIM:607432	DCX	1641	HP:0001339	Lissencephaly
OMIM:607432	DCX	1641	HP:0002365	Hypoplasia of the brainstem
OMIM:607432	DCX	1641	HP:0005484	Postnatal microcephaly
OMIM:607432	DCX	1641	HP:0001250	Seizures
OMIM:607432	DCX	1641	HP:0001285	Spastic tetraparesis
OMIM:607432	EML1	2009	HP:0002500	Abnormality of the cerebral white matter
OMIM:607432	EML1	2009	HP:0008936	Muscular hypotonia of the trunk
OMIM:607432	EML1	2009	HP:0001302	Pachygyria
OMIM:607432	EML1	2009	HP:0002119	Ventriculomegaly
OMIM:607432	EML1	2009	HP:0003828	Variable expressivity
OMIM:607432	EML1	2009	HP:0001263	Global developmental delay
OMIM:607432	EML1	2009	HP:0003745	Sporadic
OMIM:607432	EML1	2009	HP:0001321	Cerebellar hypoplasia
OMIM:607432	EML1	2009	HP:0002282	Heterotopia
OMIM:607432	EML1	2009	HP:0001249	Intellectual disability
OMIM:607432	EML1	2009	HP:0001339	Lissencephaly
OMIM:607432	EML1	2009	HP:0002365	Hypoplasia of the brainstem
OMIM:607432	EML1	2009	HP:0005484	Postnatal microcephaly
OMIM:607432	EML1	2009	HP:0001250	Seizures
OMIM:607432	EML1	2009	HP:0001285	Spastic tetraparesis
OMIM:135400	ABCA5	23461	HP:0000280	Coarse facial features
OMIM:135400	ABCA5	23461	HP:0002311	Incoordination
OMIM:135400	ABCA5	23461	HP:0000664	Synophrys
OMIM:135400	ABCA5	23461	HP:0000006	Autosomal dominant inheritance
OMIM:135400	ABCA5	23461	HP:0000286	Epicanthus
OMIM:135400	ABCA5	23461	HP:0002353	EEG abnormality
OMIM:135400	ABCA5	23461	HP:0000212	Gingival overgrowth
OMIM:135400	ABCA5	23461	HP:0000494	Downslanted palpebral fissures
OMIM:135400	ABCA5	23461	HP:0000574	Thick eyebrow
OMIM:135400	ABCA5	23461	HP:0000684	Delayed eruption of teeth
OMIM:135400	ABCA5	23461	HP:0001250	Seizures
OMIM:135400	ABCA5	23461	HP:0100543	Cognitive impairment
OMIM:135400	ABCA5	23461	HP:0000169	Gingival fibromatosis
OMIM:135400	ABCA5	23461	HP:0000414	Bulbous nose
OMIM:135400	ABCA5	23461	HP:0001007	Hirsutism
OMIM:606658	ITPR1	3708	HP:0001260	Dysarthria
OMIM:606658	ITPR1	3708	HP:0001272	Cerebellar atrophy
OMIM:606658	ITPR1	3708	HP:0007772	Impaired smooth pursuit
OMIM:606658	ITPR1	3708	HP:0001347	Hyperreflexia
OMIM:606658	ITPR1	3708	HP:0002066	Gait ataxia
OMIM:606658	ITPR1	3708	HP:0002078	Truncal ataxia
OMIM:606658	ITPR1	3708	HP:0003581	Adult onset
OMIM:606658	ITPR1	3708	HP:0003677	Slow progression
OMIM:606658	ITPR1	3708	HP:0003621	Juvenile onset
OMIM:606658	ITPR1	3708	HP:0002070	Limb ataxia
OMIM:606658	ITPR1	3708	HP:0000006	Autosomal dominant inheritance
OMIM:142623	SEMA3C	10512	HP:0004387	Enterocolitis
OMIM:142623	SEMA3C	10512	HP:0000006	Autosomal dominant inheritance
OMIM:142623	SEMA3C	10512	HP:0002019	Constipation
OMIM:142623	SEMA3C	10512	HP:0004362	Abnormality of the enteric ganglia
OMIM:142623	SEMA3C	10512	HP:0002013	Vomiting
OMIM:142623	SEMA3C	10512	HP:0003270	Abdominal distention
OMIM:142623	SEMA3C	10512	HP:0002251	Aganglionic megacolon
OMIM:142623	ECE1	1889	HP:0004387	Enterocolitis
OMIM:142623	ECE1	1889	HP:0000006	Autosomal dominant inheritance
OMIM:142623	ECE1	1889	HP:0002019	Constipation
OMIM:142623	ECE1	1889	HP:0004362	Abnormality of the enteric ganglia
OMIM:142623	ECE1	1889	HP:0002013	Vomiting
OMIM:142623	ECE1	1889	HP:0003270	Abdominal distention
OMIM:142623	ECE1	1889	HP:0002251	Aganglionic megacolon
OMIM:142623	EDN3	1908	HP:0004387	Enterocolitis
OMIM:142623	EDN3	1908	HP:0000006	Autosomal dominant inheritance
OMIM:142623	EDN3	1908	HP:0002019	Constipation
OMIM:142623	EDN3	1908	HP:0004362	Abnormality of the enteric ganglia
OMIM:142623	EDN3	1908	HP:0002013	Vomiting
OMIM:142623	EDN3	1908	HP:0003270	Abdominal distention
OMIM:142623	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:142623	EDNRB	1910	HP:0004387	Enterocolitis
OMIM:142623	EDNRB	1910	HP:0000006	Autosomal dominant inheritance
OMIM:142623	EDNRB	1910	HP:0002019	Constipation
OMIM:142623	EDNRB	1910	HP:0004362	Abnormality of the enteric ganglia
OMIM:142623	EDNRB	1910	HP:0002013	Vomiting
OMIM:142623	EDNRB	1910	HP:0003270	Abdominal distention
OMIM:142623	EDNRB	1910	HP:0002251	Aganglionic megacolon
OMIM:142623	NRTN	4902	HP:0004387	Enterocolitis
OMIM:142623	NRTN	4902	HP:0000006	Autosomal dominant inheritance
OMIM:142623	NRTN	4902	HP:0002019	Constipation
OMIM:142623	NRTN	4902	HP:0004362	Abnormality of the enteric ganglia
OMIM:142623	NRTN	4902	HP:0002013	Vomiting
OMIM:142623	NRTN	4902	HP:0003270	Abdominal distention
OMIM:142623	NRTN	4902	HP:0002251	Aganglionic megacolon
OMIM:142623	RET	5979	HP:0004387	Enterocolitis
OMIM:142623	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:142623	RET	5979	HP:0002019	Constipation
OMIM:142623	RET	5979	HP:0004362	Abnormality of the enteric ganglia
OMIM:142623	RET	5979	HP:0002013	Vomiting
OMIM:142623	RET	5979	HP:0003270	Abdominal distention
OMIM:142623	RET	5979	HP:0002251	Aganglionic megacolon
OMIM:142623	GDNF	2668	HP:0004387	Enterocolitis
OMIM:142623	GDNF	2668	HP:0000006	Autosomal dominant inheritance
OMIM:142623	GDNF	2668	HP:0002019	Constipation
OMIM:142623	GDNF	2668	HP:0004362	Abnormality of the enteric ganglia
OMIM:142623	GDNF	2668	HP:0002013	Vomiting
OMIM:142623	GDNF	2668	HP:0003270	Abdominal distention
OMIM:142623	GDNF	2668	HP:0002251	Aganglionic megacolon
OMIM:142623	SEMA3D	223117	HP:0004387	Enterocolitis
OMIM:142623	SEMA3D	223117	HP:0000006	Autosomal dominant inheritance
OMIM:142623	SEMA3D	223117	HP:0002019	Constipation
OMIM:142623	SEMA3D	223117	HP:0004362	Abnormality of the enteric ganglia
OMIM:142623	SEMA3D	223117	HP:0002013	Vomiting
OMIM:142623	SEMA3D	223117	HP:0003270	Abdominal distention
OMIM:142623	SEMA3D	223117	HP:0002251	Aganglionic megacolon
OMIM:615985	MKKS	8195	HP:0010442	Polydactyly
OMIM:615985	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615985	MKKS	8195	HP:0001249	Intellectual disability
OMIM:615985	MKKS	8195	HP:0001696	Situs inversus totalis
OMIM:615985	MKKS	8195	HP:0000248	Brachycephaly
OMIM:615985	MKKS	8195	HP:0100543	Cognitive impairment
OMIM:615985	MKKS	8195	HP:0000047	Hypospadias
OMIM:615985	MKKS	8195	HP:0000110	Renal dysplasia
OMIM:615985	MKKS	8195	HP:0001263	Global developmental delay
OMIM:615985	MKKS	8195	HP:0000135	Hypogonadism
OMIM:615985	MKKS	8195	HP:0001513	Obesity
OMIM:615985	NPHP1	4867	HP:0010442	Polydactyly
OMIM:615985	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615985	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:615985	NPHP1	4867	HP:0001696	Situs inversus totalis
OMIM:615985	NPHP1	4867	HP:0000248	Brachycephaly
OMIM:615985	NPHP1	4867	HP:0100543	Cognitive impairment
OMIM:615985	NPHP1	4867	HP:0000047	Hypospadias
OMIM:615985	NPHP1	4867	HP:0000110	Renal dysplasia
OMIM:615985	NPHP1	4867	HP:0001263	Global developmental delay
OMIM:615985	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:615985	NPHP1	4867	HP:0001513	Obesity
OMIM:615985	BBIP1	92482	HP:0010442	Polydactyly
OMIM:615985	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615985	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:615985	BBIP1	92482	HP:0001696	Situs inversus totalis
OMIM:615985	BBIP1	92482	HP:0000248	Brachycephaly
OMIM:615985	BBIP1	92482	HP:0100543	Cognitive impairment
OMIM:615985	BBIP1	92482	HP:0000047	Hypospadias
OMIM:615985	BBIP1	92482	HP:0000110	Renal dysplasia
OMIM:615985	BBIP1	92482	HP:0001263	Global developmental delay
OMIM:615985	BBIP1	92482	HP:0000135	Hypogonadism
OMIM:615985	BBIP1	92482	HP:0001513	Obesity
OMIM:615985	ARL6	84100	HP:0010442	Polydactyly
OMIM:615985	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615985	ARL6	84100	HP:0001249	Intellectual disability
OMIM:615985	ARL6	84100	HP:0001696	Situs inversus totalis
OMIM:615985	ARL6	84100	HP:0000248	Brachycephaly
OMIM:615985	ARL6	84100	HP:0100543	Cognitive impairment
OMIM:615985	ARL6	84100	HP:0000047	Hypospadias
OMIM:615985	ARL6	84100	HP:0000110	Renal dysplasia
OMIM:615985	ARL6	84100	HP:0001263	Global developmental delay
OMIM:615985	ARL6	84100	HP:0000135	Hypogonadism
OMIM:615985	ARL6	84100	HP:0001513	Obesity
OMIM:615985	BBS1	582	HP:0010442	Polydactyly
OMIM:615985	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615985	BBS1	582	HP:0001249	Intellectual disability
OMIM:615985	BBS1	582	HP:0001696	Situs inversus totalis
OMIM:615985	BBS1	582	HP:0000248	Brachycephaly
OMIM:615985	BBS1	582	HP:0100543	Cognitive impairment
OMIM:615985	BBS1	582	HP:0000047	Hypospadias
OMIM:615985	BBS1	582	HP:0000110	Renal dysplasia
OMIM:615985	BBS1	582	HP:0001263	Global developmental delay
OMIM:615985	BBS1	582	HP:0000135	Hypogonadism
OMIM:615985	BBS1	582	HP:0001513	Obesity
OMIM:615985	BBS2	583	HP:0010442	Polydactyly
OMIM:615985	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615985	BBS2	583	HP:0001249	Intellectual disability
OMIM:615985	BBS2	583	HP:0001696	Situs inversus totalis
OMIM:615985	BBS2	583	HP:0000248	Brachycephaly
OMIM:615985	BBS2	583	HP:0100543	Cognitive impairment
OMIM:615985	BBS2	583	HP:0000047	Hypospadias
OMIM:615985	BBS2	583	HP:0000110	Renal dysplasia
OMIM:615985	BBS2	583	HP:0001263	Global developmental delay
OMIM:615985	BBS2	583	HP:0000135	Hypogonadism
OMIM:615985	BBS2	583	HP:0001513	Obesity
OMIM:615985	TTC8	123016	HP:0010442	Polydactyly
OMIM:615985	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615985	TTC8	123016	HP:0001249	Intellectual disability
OMIM:615985	TTC8	123016	HP:0001696	Situs inversus totalis
OMIM:615985	TTC8	123016	HP:0000248	Brachycephaly
OMIM:615985	TTC8	123016	HP:0100543	Cognitive impairment
OMIM:615985	TTC8	123016	HP:0000047	Hypospadias
OMIM:615985	TTC8	123016	HP:0000110	Renal dysplasia
OMIM:615985	TTC8	123016	HP:0001263	Global developmental delay
OMIM:615985	TTC8	123016	HP:0000135	Hypogonadism
OMIM:615985	TTC8	123016	HP:0001513	Obesity
OMIM:615985	BBS4	585	HP:0010442	Polydactyly
OMIM:615985	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615985	BBS4	585	HP:0001249	Intellectual disability
OMIM:615985	BBS4	585	HP:0001696	Situs inversus totalis
OMIM:615985	BBS4	585	HP:0000248	Brachycephaly
OMIM:615985	BBS4	585	HP:0100543	Cognitive impairment
OMIM:615985	BBS4	585	HP:0000047	Hypospadias
OMIM:615985	BBS4	585	HP:0000110	Renal dysplasia
OMIM:615985	BBS4	585	HP:0001263	Global developmental delay
OMIM:615985	BBS4	585	HP:0000135	Hypogonadism
OMIM:615985	BBS4	585	HP:0001513	Obesity
OMIM:615985	BBS9	27241	HP:0010442	Polydactyly
OMIM:615985	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615985	BBS9	27241	HP:0001249	Intellectual disability
OMIM:615985	BBS9	27241	HP:0001696	Situs inversus totalis
OMIM:615985	BBS9	27241	HP:0000248	Brachycephaly
OMIM:615985	BBS9	27241	HP:0100543	Cognitive impairment
OMIM:615985	BBS9	27241	HP:0000047	Hypospadias
OMIM:615985	BBS9	27241	HP:0000110	Renal dysplasia
OMIM:615985	BBS9	27241	HP:0001263	Global developmental delay
OMIM:615985	BBS9	27241	HP:0000135	Hypogonadism
OMIM:615985	BBS9	27241	HP:0001513	Obesity
OMIM:615985	BBS12	166379	HP:0010442	Polydactyly
OMIM:615985	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615985	BBS12	166379	HP:0001249	Intellectual disability
OMIM:615985	BBS12	166379	HP:0001696	Situs inversus totalis
OMIM:615985	BBS12	166379	HP:0000248	Brachycephaly
OMIM:615985	BBS12	166379	HP:0100543	Cognitive impairment
OMIM:615985	BBS12	166379	HP:0000047	Hypospadias
OMIM:615985	BBS12	166379	HP:0000110	Renal dysplasia
OMIM:615985	BBS12	166379	HP:0001263	Global developmental delay
OMIM:615985	BBS12	166379	HP:0000135	Hypogonadism
OMIM:615985	BBS12	166379	HP:0001513	Obesity
OMIM:615985	TRIM32	22954	HP:0010442	Polydactyly
OMIM:615985	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615985	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:615985	TRIM32	22954	HP:0001696	Situs inversus totalis
OMIM:615985	TRIM32	22954	HP:0000248	Brachycephaly
OMIM:615985	TRIM32	22954	HP:0100543	Cognitive impairment
OMIM:615985	TRIM32	22954	HP:0000047	Hypospadias
OMIM:615985	TRIM32	22954	HP:0000110	Renal dysplasia
OMIM:615985	TRIM32	22954	HP:0001263	Global developmental delay
OMIM:615985	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:615985	TRIM32	22954	HP:0001513	Obesity
OMIM:615985	BBS7	55212	HP:0010442	Polydactyly
OMIM:615985	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615985	BBS7	55212	HP:0001249	Intellectual disability
OMIM:615985	BBS7	55212	HP:0001696	Situs inversus totalis
OMIM:615985	BBS7	55212	HP:0000248	Brachycephaly
OMIM:615985	BBS7	55212	HP:0100543	Cognitive impairment
OMIM:615985	BBS7	55212	HP:0000047	Hypospadias
OMIM:615985	BBS7	55212	HP:0000110	Renal dysplasia
OMIM:615985	BBS7	55212	HP:0001263	Global developmental delay
OMIM:615985	BBS7	55212	HP:0000135	Hypogonadism
OMIM:615985	BBS7	55212	HP:0001513	Obesity
OMIM:615985	IFT27	11020	HP:0010442	Polydactyly
OMIM:615985	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615985	IFT27	11020	HP:0001249	Intellectual disability
OMIM:615985	IFT27	11020	HP:0001696	Situs inversus totalis
OMIM:615985	IFT27	11020	HP:0000248	Brachycephaly
OMIM:615985	IFT27	11020	HP:0100543	Cognitive impairment
OMIM:615985	IFT27	11020	HP:0000047	Hypospadias
OMIM:615985	IFT27	11020	HP:0000110	Renal dysplasia
OMIM:615985	IFT27	11020	HP:0001263	Global developmental delay
OMIM:615985	IFT27	11020	HP:0000135	Hypogonadism
OMIM:615985	IFT27	11020	HP:0001513	Obesity
OMIM:615985	IFT172	26160	HP:0010442	Polydactyly
OMIM:615985	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615985	IFT172	26160	HP:0001249	Intellectual disability
OMIM:615985	IFT172	26160	HP:0001696	Situs inversus totalis
OMIM:615985	IFT172	26160	HP:0000248	Brachycephaly
OMIM:615985	IFT172	26160	HP:0100543	Cognitive impairment
OMIM:615985	IFT172	26160	HP:0000047	Hypospadias
OMIM:615985	IFT172	26160	HP:0000110	Renal dysplasia
OMIM:615985	IFT172	26160	HP:0001263	Global developmental delay
OMIM:615985	IFT172	26160	HP:0000135	Hypogonadism
OMIM:615985	IFT172	26160	HP:0001513	Obesity
OMIM:615985	WDPCP	51057	HP:0010442	Polydactyly
OMIM:615985	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615985	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:615985	WDPCP	51057	HP:0001696	Situs inversus totalis
OMIM:615985	WDPCP	51057	HP:0000248	Brachycephaly
OMIM:615985	WDPCP	51057	HP:0100543	Cognitive impairment
OMIM:615985	WDPCP	51057	HP:0000047	Hypospadias
OMIM:615985	WDPCP	51057	HP:0000110	Renal dysplasia
OMIM:615985	WDPCP	51057	HP:0001263	Global developmental delay
OMIM:615985	WDPCP	51057	HP:0000135	Hypogonadism
OMIM:615985	WDPCP	51057	HP:0001513	Obesity
OMIM:615985	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:615985	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615985	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:615985	SDCCAG8	10806	HP:0001696	Situs inversus totalis
OMIM:615985	SDCCAG8	10806	HP:0000248	Brachycephaly
OMIM:615985	SDCCAG8	10806	HP:0100543	Cognitive impairment
OMIM:615985	SDCCAG8	10806	HP:0000047	Hypospadias
OMIM:615985	SDCCAG8	10806	HP:0000110	Renal dysplasia
OMIM:615985	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:615985	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:615985	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615985	MKS1	54903	HP:0010442	Polydactyly
OMIM:615985	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615985	MKS1	54903	HP:0001249	Intellectual disability
OMIM:615985	MKS1	54903	HP:0001696	Situs inversus totalis
OMIM:615985	MKS1	54903	HP:0000248	Brachycephaly
OMIM:615985	MKS1	54903	HP:0100543	Cognitive impairment
OMIM:615985	MKS1	54903	HP:0000047	Hypospadias
OMIM:615985	MKS1	54903	HP:0000110	Renal dysplasia
OMIM:615985	MKS1	54903	HP:0001263	Global developmental delay
OMIM:615985	MKS1	54903	HP:0000135	Hypogonadism
OMIM:615985	MKS1	54903	HP:0001513	Obesity
OMIM:615985	BBS5	129880	HP:0010442	Polydactyly
OMIM:615985	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615985	BBS5	129880	HP:0001249	Intellectual disability
OMIM:615985	BBS5	129880	HP:0001696	Situs inversus totalis
OMIM:615985	BBS5	129880	HP:0000248	Brachycephaly
OMIM:615985	BBS5	129880	HP:0100543	Cognitive impairment
OMIM:615985	BBS5	129880	HP:0000047	Hypospadias
OMIM:615985	BBS5	129880	HP:0000110	Renal dysplasia
OMIM:615985	BBS5	129880	HP:0001263	Global developmental delay
OMIM:615985	BBS5	129880	HP:0000135	Hypogonadism
OMIM:615985	BBS5	129880	HP:0001513	Obesity
OMIM:615985	CEP290	80184	HP:0010442	Polydactyly
OMIM:615985	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615985	CEP290	80184	HP:0001249	Intellectual disability
OMIM:615985	CEP290	80184	HP:0001696	Situs inversus totalis
OMIM:615985	CEP290	80184	HP:0000248	Brachycephaly
OMIM:615985	CEP290	80184	HP:0100543	Cognitive impairment
OMIM:615985	CEP290	80184	HP:0000047	Hypospadias
OMIM:615985	CEP290	80184	HP:0000110	Renal dysplasia
OMIM:615985	CEP290	80184	HP:0001263	Global developmental delay
OMIM:615985	CEP290	80184	HP:0000135	Hypogonadism
OMIM:615985	CEP290	80184	HP:0001513	Obesity
OMIM:615985	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:615985	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615985	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:615985	LZTFL1	54585	HP:0001696	Situs inversus totalis
OMIM:615985	LZTFL1	54585	HP:0000248	Brachycephaly
OMIM:615985	LZTFL1	54585	HP:0100543	Cognitive impairment
OMIM:615985	LZTFL1	54585	HP:0000047	Hypospadias
OMIM:615985	LZTFL1	54585	HP:0000110	Renal dysplasia
OMIM:615985	LZTFL1	54585	HP:0001263	Global developmental delay
OMIM:615985	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:615985	LZTFL1	54585	HP:0001513	Obesity
OMIM:615985	BBS10	79738	HP:0010442	Polydactyly
OMIM:615985	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615985	BBS10	79738	HP:0001249	Intellectual disability
OMIM:615985	BBS10	79738	HP:0001696	Situs inversus totalis
OMIM:615985	BBS10	79738	HP:0000248	Brachycephaly
OMIM:615985	BBS10	79738	HP:0100543	Cognitive impairment
OMIM:615985	BBS10	79738	HP:0000047	Hypospadias
OMIM:615985	BBS10	79738	HP:0000110	Renal dysplasia
OMIM:615985	BBS10	79738	HP:0001263	Global developmental delay
OMIM:615985	BBS10	79738	HP:0000135	Hypogonadism
OMIM:615985	BBS10	79738	HP:0001513	Obesity
OMIM:142000	HBD	3045	HP:0000006	Autosomal dominant inheritance
OMIM:142000	HBD	3045	HP:0001903	Anemia
OMIM:615362	CTSF	8722	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615362	CTSF	8722	HP:0001337	Tremor
OMIM:615362	CTSF	8722	HP:0000712	Emotional lability
OMIM:615362	CTSF	8722	HP:0001260	Dysarthria
OMIM:615362	CTSF	8722	HP:0003581	Adult onset
OMIM:615362	CTSF	8722	HP:0000007	Autosomal recessive inheritance
OMIM:615362	CTSF	8722	HP:0000726	Dementia
OMIM:615362	CTSF	8722	HP:0001250	Seizures
OMIM:615362	CTSF	8722	HP:0001251	Ataxia
OMIM:615362	CTSF	8722	HP:0003676	Progressive
OMIM:615362	CTSF	8722	HP:0001272	Cerebellar atrophy
OMIM:172800	KIT	3815	HP:0002664	Neoplasm
OMIM:172800	KIT	3815	HP:0002648	Abnormality of calvarial morphology
OMIM:172800	KIT	3815	HP:0002211	White forelock
OMIM:172800	KIT	3815	HP:0100543	Cognitive impairment
OMIM:172800	KIT	3815	HP:0000006	Autosomal dominant inheritance
OMIM:172800	KIT	3815	HP:0000431	Wide nasal bridge
OMIM:172800	KIT	3815	HP:0001034	Hypermelanotic macule
OMIM:172800	KIT	3815	HP:0000252	Microcephaly
OMIM:172800	KIT	3815	HP:0008069	Neoplasm of the skin
OMIM:172800	KIT	3815	HP:0000365	Hearing impairment
OMIM:172800	KIT	3815	HP:0001053	Hypopigmented skin patches
OMIM:172800	KIT	3815	HP:0001252	Muscular hypotonia
OMIM:172800	KIT	3815	HP:0001100	Heterochromia iridis
OMIM:172800	KIT	3815	HP:0000343	Long philtrum
OMIM:172800	KIT	3815	HP:0002251	Aganglionic megacolon
OMIM:172800	KIT	3815	HP:0000664	Synophrys
OMIM:172800	KIT	3815	HP:0000598	Abnormality of the ear
OMIM:172800	KIT	3815	HP:0002311	Incoordination
OMIM:172800	SNAI2	6591	HP:0002664	Neoplasm
OMIM:172800	SNAI2	6591	HP:0002648	Abnormality of calvarial morphology
OMIM:172800	SNAI2	6591	HP:0002211	White forelock
OMIM:172800	SNAI2	6591	HP:0100543	Cognitive impairment
OMIM:172800	SNAI2	6591	HP:0000006	Autosomal dominant inheritance
OMIM:172800	SNAI2	6591	HP:0000431	Wide nasal bridge
OMIM:172800	SNAI2	6591	HP:0001034	Hypermelanotic macule
OMIM:172800	SNAI2	6591	HP:0000252	Microcephaly
OMIM:172800	SNAI2	6591	HP:0008069	Neoplasm of the skin
OMIM:172800	SNAI2	6591	HP:0000365	Hearing impairment
OMIM:172800	SNAI2	6591	HP:0001053	Hypopigmented skin patches
OMIM:172800	SNAI2	6591	HP:0001252	Muscular hypotonia
OMIM:172800	SNAI2	6591	HP:0001100	Heterochromia iridis
OMIM:172800	SNAI2	6591	HP:0000343	Long philtrum
OMIM:172800	SNAI2	6591	HP:0002251	Aganglionic megacolon
OMIM:172800	SNAI2	6591	HP:0000664	Synophrys
OMIM:172800	SNAI2	6591	HP:0000598	Abnormality of the ear
OMIM:172800	SNAI2	6591	HP:0002311	Incoordination
OMIM:166300	MAFB	9935	HP:0001163	Abnormality of the metacarpal bones
OMIM:166300	MAFB	9935	HP:0000325	Triangular face
OMIM:166300	MAFB	9935	HP:0000093	Proteinuria
OMIM:166300	MAFB	9935	HP:0000327	Hypoplasia of the maxilla
OMIM:166300	MAFB	9935	HP:0000822	Hypertension
OMIM:166300	MAFB	9935	HP:0000112	Nephropathy
OMIM:166300	MAFB	9935	HP:0000506	Telecanthus
OMIM:166300	MAFB	9935	HP:0001761	Pes cavus
OMIM:166300	MAFB	9935	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:166300	MAFB	9935	HP:0001288	Gait disturbance
OMIM:166300	MAFB	9935	HP:0002829	Arthralgia
OMIM:166300	MAFB	9935	HP:0001561	Polyhydramnios
OMIM:166300	MAFB	9935	HP:0000083	Renal insufficiency
OMIM:166300	MAFB	9935	HP:0003202	Skeletal muscle atrophy
OMIM:166300	MAFB	9935	HP:0004325	Decreased body weight
OMIM:166300	MAFB	9935	HP:0000520	Proptosis
OMIM:166300	MAFB	9935	HP:0003457	EMG abnormality
OMIM:166300	MAFB	9935	HP:0000347	Micrognathia
OMIM:166300	MAFB	9935	HP:0003100	Slender long bone
OMIM:166300	MAFB	9935	HP:0100490	Camptodactyly of finger
OMIM:166300	MAFB	9935	HP:0000938	Osteopenia
OMIM:166300	MAFB	9935	HP:0001376	Limitation of joint mobility
OMIM:166300	MAFB	9935	HP:0000006	Autosomal dominant inheritance
OMIM:166300	MAFB	9935	HP:0005930	Abnormality of epiphysis morphology
OMIM:166300	MAFB	9935	HP:0000431	Wide nasal bridge
OMIM:166300	MAFB	9935	HP:0002714	Downturned corners of mouth
OMIM:193235	CAPN5	726	HP:0000512	Abnormal electroretinogram
OMIM:193235	CAPN5	726	HP:0000618	Blindness
OMIM:193235	CAPN5	726	HP:0000541	Retinal detachment
OMIM:193235	CAPN5	726	HP:0000006	Autosomal dominant inheritance
OMIM:616579	CHAMP1	283489	HP:0000286	Epicanthus
OMIM:616579	CHAMP1	283489	HP:0011968	Feeding difficulties
OMIM:616579	CHAMP1	283489	HP:0000276	Long face
OMIM:616579	CHAMP1	283489	HP:0002066	Gait ataxia
OMIM:616579	CHAMP1	283489	HP:0000252	Microcephaly
OMIM:616579	CHAMP1	283489	HP:0010804	Tented upper lip vermilion
OMIM:616579	CHAMP1	283489	HP:0000194	Open mouth
OMIM:616579	CHAMP1	283489	HP:0000540	Hypermetropia
OMIM:616579	CHAMP1	283489	HP:0000218	High palate
OMIM:616579	CHAMP1	283489	HP:0000322	Short philtrum
OMIM:616579	CHAMP1	283489	HP:0000582	Upslanted palpebral fissure
OMIM:616579	CHAMP1	283489	HP:0002020	Gastroesophageal reflux
OMIM:616579	CHAMP1	283489	HP:0007328	Impaired pain sensation
OMIM:616579	CHAMP1	283489	HP:0002205	Recurrent respiratory infections
OMIM:616579	CHAMP1	283489	HP:0000369	Low-set ears
OMIM:616579	CHAMP1	283489	HP:0001263	Global developmental delay
OMIM:616579	CHAMP1	283489	HP:0001252	Muscular hypotonia
OMIM:616579	CHAMP1	283489	HP:0000307	Pointed chin
OMIM:616579	CHAMP1	283489	HP:0000486	Strabismus
OMIM:616579	CHAMP1	283489	HP:0000232	Everted lower lip vermilion
OMIM:616579	CHAMP1	283489	HP:0001382	Joint hypermobility
OMIM:616579	CHAMP1	283489	HP:0000733	Stereotypic behavior
OMIM:608649	SLC27A4	10999	HP:0008064	Ichthyosis
OMIM:608649	SLC27A4	10999	HP:0001622	Premature birth
OMIM:601543	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:601543	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:601543	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:601543	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:601543	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:601543	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:601543	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:601543	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:601543	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:601543	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:601543	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:601543	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601543	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:601543	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:601543	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:601543	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:601543	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:601543	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:601543	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:601543	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:601543	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:601543	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:601543	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:601543	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:601543	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:601543	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:601543	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:601543	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:601543	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:601543	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:601543	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:601543	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:601543	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:601543	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:601543	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:601543	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:601543	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:601543	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:601543	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:601543	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:601543	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:601543	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:601543	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:601543	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:601543	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:601543	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:601543	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:601543	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:601543	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:601543	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:601543	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:601543	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:601543	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:601543	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:601543	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:601543	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:601543	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:601543	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:601543	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:601543	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:601543	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:601543	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:601543	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:601543	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:601543	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:601543	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:601543	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:601543	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:601543	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:601543	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:106210	ELP4	26610	HP:0000518	Cataract
OMIM:106210	ELP4	26610	HP:0007759	Opacification of the corneal stroma
OMIM:106210	ELP4	26610	HP:0000639	Nystagmus
OMIM:106210	ELP4	26610	HP:0000505	Visual impairment
OMIM:106210	ELP4	26610	HP:0000501	Glaucoma
OMIM:106210	ELP4	26610	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:106210	ELP4	26610	HP:0000609	Optic nerve hypoplasia
OMIM:106210	ELP4	26610	HP:0000006	Autosomal dominant inheritance
OMIM:106210	ELP4	26610	HP:0001103	Abnormality of the macula
OMIM:106210	PAX6	5080	HP:0000518	Cataract
OMIM:106210	PAX6	5080	HP:0007759	Opacification of the corneal stroma
OMIM:106210	PAX6	5080	HP:0000639	Nystagmus
OMIM:106210	PAX6	5080	HP:0000505	Visual impairment
OMIM:106210	PAX6	5080	HP:0000501	Glaucoma
OMIM:106210	PAX6	5080	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:106210	PAX6	5080	HP:0000609	Optic nerve hypoplasia
OMIM:106210	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:106210	PAX6	5080	HP:0001103	Abnormality of the macula
OMIM:614116	DNMT1	1786	HP:0000006	Autosomal dominant inheritance
OMIM:614116	DNMT1	1786	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:614116	DNMT1	1786	HP:0002754	Osteomyelitis
OMIM:614116	DNMT1	1786	HP:0000726	Dementia
OMIM:614116	DNMT1	1786	HP:0002059	Cerebral atrophy
OMIM:614116	DNMT1	1786	HP:0000407	Sensorineural hearing impairment
OMIM:614116	DNMT1	1786	HP:0000741	Apathy
OMIM:614116	DNMT1	1786	HP:0002354	Memory impairment
OMIM:614116	DNMT1	1786	HP:0003676	Progressive
OMIM:614116	DNMT1	1786	HP:0000737	Irritability
OMIM:614116	DNMT1	1786	HP:0001265	Hyporeflexia
OMIM:614116	DNMT1	1786	HP:0000763	Sensory neuropathy
OMIM:603383	ASB10	136371	HP:0000006	Autosomal dominant inheritance
OMIM:615513	PIK3CD	5293	HP:0002110	Bronchiectasis
OMIM:615513	PIK3CD	5293	HP:0002716	Lymphadenopathy
OMIM:615513	PIK3CD	5293	HP:0002721	Immunodeficiency
OMIM:615513	PIK3CD	5293	HP:0004313	Decreased antibody level in blood
OMIM:615513	PIK3CD	5293	HP:0001744	Splenomegaly
OMIM:615513	PIK3CD	5293	HP:0100658	Cellulitis
OMIM:615513	PIK3R1	5295	HP:0002110	Bronchiectasis
OMIM:615513	PIK3R1	5295	HP:0002716	Lymphadenopathy
OMIM:615513	PIK3R1	5295	HP:0002721	Immunodeficiency
OMIM:615513	PIK3R1	5295	HP:0004313	Decreased antibody level in blood
OMIM:615513	PIK3R1	5295	HP:0001744	Splenomegaly
OMIM:615513	PIK3R1	5295	HP:0100658	Cellulitis
OMIM:613819	TTC21B	79809	HP:0000546	Retinal degeneration
OMIM:613819	TTC21B	79809	HP:0000774	Narrow chest
OMIM:613819	TTC21B	79809	HP:0000773	Short ribs
OMIM:613819	TTC21B	79809	HP:0004322	Short stature
OMIM:613819	TTC21B	79809	HP:0003026	Short long bone
OMIM:613819	TTC21B	79809	HP:0000007	Autosomal recessive inheritance
OMIM:613819	WDR19	57728	HP:0000546	Retinal degeneration
OMIM:613819	WDR19	57728	HP:0000774	Narrow chest
OMIM:613819	WDR19	57728	HP:0000773	Short ribs
OMIM:613819	WDR19	57728	HP:0004322	Short stature
OMIM:613819	WDR19	57728	HP:0003026	Short long bone
OMIM:613819	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:613819	IFT172	26160	HP:0000546	Retinal degeneration
OMIM:613819	IFT172	26160	HP:0000774	Narrow chest
OMIM:613819	IFT172	26160	HP:0000773	Short ribs
OMIM:613819	IFT172	26160	HP:0004322	Short stature
OMIM:613819	IFT172	26160	HP:0003026	Short long bone
OMIM:613819	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613819	WDR34	89891	HP:0000546	Retinal degeneration
OMIM:613819	WDR34	89891	HP:0000774	Narrow chest
OMIM:613819	WDR34	89891	HP:0000773	Short ribs
OMIM:613819	WDR34	89891	HP:0004322	Short stature
OMIM:613819	WDR34	89891	HP:0003026	Short long bone
OMIM:613819	WDR34	89891	HP:0000007	Autosomal recessive inheritance
OMIM:613819	IFT80	57560	HP:0000546	Retinal degeneration
OMIM:613819	IFT80	57560	HP:0000774	Narrow chest
OMIM:613819	IFT80	57560	HP:0000773	Short ribs
OMIM:613819	IFT80	57560	HP:0004322	Short stature
OMIM:613819	IFT80	57560	HP:0003026	Short long bone
OMIM:613819	IFT80	57560	HP:0000007	Autosomal recessive inheritance
OMIM:613819	WDR60	55112	HP:0000546	Retinal degeneration
OMIM:613819	WDR60	55112	HP:0000774	Narrow chest
OMIM:613819	WDR60	55112	HP:0000773	Short ribs
OMIM:613819	WDR60	55112	HP:0004322	Short stature
OMIM:613819	WDR60	55112	HP:0003026	Short long bone
OMIM:613819	WDR60	55112	HP:0000007	Autosomal recessive inheritance
OMIM:613819	DYNC2H1	79659	HP:0000546	Retinal degeneration
OMIM:613819	DYNC2H1	79659	HP:0000774	Narrow chest
OMIM:613819	DYNC2H1	79659	HP:0000773	Short ribs
OMIM:613819	DYNC2H1	79659	HP:0004322	Short stature
OMIM:613819	DYNC2H1	79659	HP:0003026	Short long bone
OMIM:613819	DYNC2H1	79659	HP:0000007	Autosomal recessive inheritance
OMIM:613819	CEP120	153241	HP:0000546	Retinal degeneration
OMIM:613819	CEP120	153241	HP:0000774	Narrow chest
OMIM:613819	CEP120	153241	HP:0000773	Short ribs
OMIM:613819	CEP120	153241	HP:0004322	Short stature
OMIM:613819	CEP120	153241	HP:0003026	Short long bone
OMIM:613819	CEP120	153241	HP:0000007	Autosomal recessive inheritance
OMIM:613819	IFT140	9742	HP:0000546	Retinal degeneration
OMIM:613819	IFT140	9742	HP:0000774	Narrow chest
OMIM:613819	IFT140	9742	HP:0000773	Short ribs
OMIM:613819	IFT140	9742	HP:0004322	Short stature
OMIM:613819	IFT140	9742	HP:0003026	Short long bone
OMIM:613819	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:615575	HSPB8	26353	HP:0003677	Slow progression
OMIM:615575	HSPB8	26353	HP:0003828	Variable expressivity
OMIM:615575	HSPB8	26353	HP:0007269	Spinal muscular atrophy
OMIM:615575	HSPB8	26353	HP:0007340	Lower limb muscle weakness
OMIM:615575	HSPB8	26353	HP:0001761	Pes cavus
OMIM:615575	HSPB8	26353	HP:0003394	Muscle cramps
OMIM:615575	HSPB8	26353	HP:0002380	Fasciculations
OMIM:615575	HSPB8	26353	HP:0002355	Difficulty walking
OMIM:615575	HSPB8	26353	HP:0000006	Autosomal dominant inheritance
OMIM:615575	HSPB1	3315	HP:0003677	Slow progression
OMIM:615575	HSPB1	3315	HP:0003828	Variable expressivity
OMIM:615575	HSPB1	3315	HP:0007269	Spinal muscular atrophy
OMIM:615575	HSPB1	3315	HP:0007340	Lower limb muscle weakness
OMIM:615575	HSPB1	3315	HP:0001761	Pes cavus
OMIM:615575	HSPB1	3315	HP:0003394	Muscle cramps
OMIM:615575	HSPB1	3315	HP:0002380	Fasciculations
OMIM:615575	HSPB1	3315	HP:0002355	Difficulty walking
OMIM:615575	HSPB1	3315	HP:0000006	Autosomal dominant inheritance
OMIM:615575	FBXO38	81545	HP:0003677	Slow progression
OMIM:615575	FBXO38	81545	HP:0003828	Variable expressivity
OMIM:615575	FBXO38	81545	HP:0007269	Spinal muscular atrophy
OMIM:615575	FBXO38	81545	HP:0007340	Lower limb muscle weakness
OMIM:615575	FBXO38	81545	HP:0001761	Pes cavus
OMIM:615575	FBXO38	81545	HP:0003394	Muscle cramps
OMIM:615575	FBXO38	81545	HP:0002380	Fasciculations
OMIM:615575	FBXO38	81545	HP:0002355	Difficulty walking
OMIM:615575	FBXO38	81545	HP:0000006	Autosomal dominant inheritance
OMIM:615575	HSPB3	8988	HP:0003677	Slow progression
OMIM:615575	HSPB3	8988	HP:0003828	Variable expressivity
OMIM:615575	HSPB3	8988	HP:0007269	Spinal muscular atrophy
OMIM:615575	HSPB3	8988	HP:0007340	Lower limb muscle weakness
OMIM:615575	HSPB3	8988	HP:0001761	Pes cavus
OMIM:615575	HSPB3	8988	HP:0003394	Muscle cramps
OMIM:615575	HSPB3	8988	HP:0002380	Fasciculations
OMIM:615575	HSPB3	8988	HP:0002355	Difficulty walking
OMIM:615575	HSPB3	8988	HP:0000006	Autosomal dominant inheritance
OMIM:611615	TPM1	7168	HP:0000007	Autosomal recessive inheritance
OMIM:611615	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:611615	TPM1	7168	HP:0003701	Proximal muscle weakness
OMIM:611615	CRYAB	1410	HP:0000007	Autosomal recessive inheritance
OMIM:611615	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:611615	CRYAB	1410	HP:0003701	Proximal muscle weakness
OMIM:611615	ACTC1	70	HP:0000007	Autosomal recessive inheritance
OMIM:611615	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:611615	ACTC1	70	HP:0003701	Proximal muscle weakness
OMIM:611615	RAF1	5894	HP:0000007	Autosomal recessive inheritance
OMIM:611615	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:611615	RAF1	5894	HP:0003701	Proximal muscle weakness
OMIM:611615	GATAD1	57798	HP:0000007	Autosomal recessive inheritance
OMIM:611615	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:611615	GATAD1	57798	HP:0003701	Proximal muscle weakness
OMIM:611615	LAMA4	3910	HP:0000007	Autosomal recessive inheritance
OMIM:611615	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:611615	LAMA4	3910	HP:0003701	Proximal muscle weakness
OMIM:611615	TMPO	7112	HP:0000007	Autosomal recessive inheritance
OMIM:611615	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:611615	TMPO	7112	HP:0003701	Proximal muscle weakness
OMIM:611615	DES	1674	HP:0000007	Autosomal recessive inheritance
OMIM:611615	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:611615	DES	1674	HP:0003701	Proximal muscle weakness
OMIM:611615	ABCC9	10060	HP:0000007	Autosomal recessive inheritance
OMIM:611615	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:611615	ABCC9	10060	HP:0003701	Proximal muscle weakness
OMIM:611615	MYH6	4624	HP:0000007	Autosomal recessive inheritance
OMIM:611615	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:611615	MYH6	4624	HP:0003701	Proximal muscle weakness
OMIM:611615	MYH7	4625	HP:0000007	Autosomal recessive inheritance
OMIM:611615	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:611615	MYH7	4625	HP:0003701	Proximal muscle weakness
OMIM:611615	LDB3	11155	HP:0000007	Autosomal recessive inheritance
OMIM:611615	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:611615	LDB3	11155	HP:0003701	Proximal muscle weakness
OMIM:611615	ACTN2	88	HP:0000007	Autosomal recessive inheritance
OMIM:611615	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:611615	ACTN2	88	HP:0003701	Proximal muscle weakness
OMIM:611615	TXNRD2	10587	HP:0000007	Autosomal recessive inheritance
OMIM:611615	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:611615	TXNRD2	10587	HP:0003701	Proximal muscle weakness
OMIM:611615	DMD	1756	HP:0000007	Autosomal recessive inheritance
OMIM:611615	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:611615	DMD	1756	HP:0003701	Proximal muscle weakness
OMIM:611615	TNNC1	7134	HP:0000007	Autosomal recessive inheritance
OMIM:611615	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:611615	TNNC1	7134	HP:0003701	Proximal muscle weakness
OMIM:611615	PSEN1	5663	HP:0000007	Autosomal recessive inheritance
OMIM:611615	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:611615	PSEN1	5663	HP:0003701	Proximal muscle weakness
OMIM:611615	PSEN2	5664	HP:0000007	Autosomal recessive inheritance
OMIM:611615	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:611615	PSEN2	5664	HP:0003701	Proximal muscle weakness
OMIM:611615	TNNI3	7137	HP:0000007	Autosomal recessive inheritance
OMIM:611615	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:611615	TNNI3	7137	HP:0003701	Proximal muscle weakness
OMIM:611615	FHL2	2274	HP:0000007	Autosomal recessive inheritance
OMIM:611615	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:611615	FHL2	2274	HP:0003701	Proximal muscle weakness
OMIM:611615	TNNT2	7139	HP:0000007	Autosomal recessive inheritance
OMIM:611615	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:611615	TNNT2	7139	HP:0003701	Proximal muscle weakness
OMIM:611615	DSG2	1829	HP:0000007	Autosomal recessive inheritance
OMIM:611615	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:611615	DSG2	1829	HP:0003701	Proximal muscle weakness
OMIM:611615	PLN	5350	HP:0000007	Autosomal recessive inheritance
OMIM:611615	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:611615	PLN	5350	HP:0003701	Proximal muscle weakness
OMIM:611615	PRDM16	63976	HP:0000007	Autosomal recessive inheritance
OMIM:611615	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:611615	PRDM16	63976	HP:0003701	Proximal muscle weakness
OMIM:611615	TTN	7273	HP:0000007	Autosomal recessive inheritance
OMIM:611615	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:611615	TTN	7273	HP:0003701	Proximal muscle weakness
OMIM:611615	NEXN	91624	HP:0000007	Autosomal recessive inheritance
OMIM:611615	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:611615	NEXN	91624	HP:0003701	Proximal muscle weakness
OMIM:611615	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:611615	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:611615	FKTN	2218	HP:0003701	Proximal muscle weakness
OMIM:611615	SGCD	6444	HP:0000007	Autosomal recessive inheritance
OMIM:611615	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:611615	SGCD	6444	HP:0003701	Proximal muscle weakness
OMIM:611615	TCAP	8557	HP:0000007	Autosomal recessive inheritance
OMIM:611615	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:611615	TCAP	8557	HP:0003701	Proximal muscle weakness
OMIM:611615	CSRP3	8048	HP:0000007	Autosomal recessive inheritance
OMIM:611615	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:611615	CSRP3	8048	HP:0003701	Proximal muscle weakness
OMIM:611615	RBM20	282996	HP:0000007	Autosomal recessive inheritance
OMIM:611615	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:611615	RBM20	282996	HP:0003701	Proximal muscle weakness
OMIM:611615	SDHA	6389	HP:0000007	Autosomal recessive inheritance
OMIM:611615	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:611615	SDHA	6389	HP:0003701	Proximal muscle weakness
OMIM:611615	TAZ	6901	HP:0000007	Autosomal recessive inheritance
OMIM:611615	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:611615	TAZ	6901	HP:0003701	Proximal muscle weakness
OMIM:611615	VCL	7414	HP:0000007	Autosomal recessive inheritance
OMIM:611615	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:611615	VCL	7414	HP:0003701	Proximal muscle weakness
OMIM:611615	MYPN	84665	HP:0000007	Autosomal recessive inheritance
OMIM:611615	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:611615	MYPN	84665	HP:0003701	Proximal muscle weakness
OMIM:611615	SCN5A	6331	HP:0000007	Autosomal recessive inheritance
OMIM:611615	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:611615	SCN5A	6331	HP:0003701	Proximal muscle weakness
OMIM:611615	BAG3	9531	HP:0000007	Autosomal recessive inheritance
OMIM:611615	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:611615	BAG3	9531	HP:0003701	Proximal muscle weakness
OMIM:611615	DOLK	22845	HP:0000007	Autosomal recessive inheritance
OMIM:611615	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:611615	DOLK	22845	HP:0003701	Proximal muscle weakness
OMIM:611615	MYBPC3	4607	HP:0000007	Autosomal recessive inheritance
OMIM:611615	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:611615	MYBPC3	4607	HP:0003701	Proximal muscle weakness
OMIM:600882	RAB7A	7879	HP:0003431	Decreased motor nerve conduction velocity
OMIM:600882	RAB7A	7879	HP:0003693	Distal amyotrophy
OMIM:600882	RAB7A	7879	HP:0002460	Distal muscle weakness
OMIM:600882	RAB7A	7879	HP:0001765	Hammertoe
OMIM:600882	RAB7A	7879	HP:0001265	Hyporeflexia
OMIM:600882	RAB7A	7879	HP:0001761	Pes cavus
OMIM:600882	RAB7A	7879	HP:0009027	Foot dorsiflexor weakness
OMIM:600882	RAB7A	7879	HP:0001284	Areflexia
OMIM:600882	RAB7A	7879	HP:0001763	Pes planus
OMIM:600882	RAB7A	7879	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:600882	RAB7A	7879	HP:0000006	Autosomal dominant inheritance
OMIM:600882	RAB7A	7879	HP:0003376	Steppage gait
OMIM:610460	TPMT	7172	HP:0000007	Autosomal recessive inheritance
OMIM:610460	TPMT	7172	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:610460	TPMT	7172	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:211600	ATP8B1	5205	HP:0002240	Hepatomegaly
OMIM:211600	ATP8B1	5205	HP:0003593	Infantile onset
OMIM:211600	ATP8B1	5205	HP:0002908	Conjugated hyperbilirubinemia
OMIM:211600	ATP8B1	5205	HP:0000007	Autosomal recessive inheritance
OMIM:211600	ATP8B1	5205	HP:0003510	Severe short stature
OMIM:211600	ATP8B1	5205	HP:0002630	Fat malabsorption
OMIM:211600	ATP8B1	5205	HP:0001394	Cirrhosis
OMIM:211600	ATP8B1	5205	HP:0000989	Pruritus
OMIM:211600	ATP8B1	5205	HP:0001508	Failure to thrive
OMIM:211600	ATP8B1	5205	HP:0001744	Splenomegaly
OMIM:211600	ATP8B1	5205	HP:0002014	Diarrhea
OMIM:211600	ATP8B1	5205	HP:0000952	Jaundice
OMIM:300845	BRCC3	79184	HP:0000490	Deeply set eye
OMIM:300845	BRCC3	79184	HP:0000369	Low-set ears
OMIM:300845	BRCC3	79184	HP:0000824	Growth hormone deficiency
OMIM:300845	BRCC3	79184	HP:0000316	Hypertelorism
OMIM:300845	BRCC3	79184	HP:0000518	Cataract
OMIM:300845	BRCC3	79184	HP:0000445	Wide nose
OMIM:300845	BRCC3	79184	HP:0001263	Global developmental delay
OMIM:300845	BRCC3	79184	HP:0005288	Abnormality of the nares
OMIM:300845	BRCC3	79184	HP:0005922	Abnormal hand morphology
OMIM:300845	BRCC3	79184	HP:0000343	Long philtrum
OMIM:300845	BRCC3	79184	HP:0001711	Abnormality of the left ventricle
OMIM:300845	BRCC3	79184	HP:0001999	Abnormal facial shape
OMIM:300845	BRCC3	79184	HP:0009803	Short phalanx of finger
OMIM:300845	BRCC3	79184	HP:0000815	Hypergonadotropic hypogonadism
OMIM:300845	BRCC3	79184	HP:0002216	Premature graying of hair
OMIM:300845	BRCC3	79184	HP:0000027	Azoospermia
OMIM:300845	BRCC3	79184	HP:0000278	Retrognathia
OMIM:300845	BRCC3	79184	HP:0001419	X-linked recessive inheritance
OMIM:300845	BRCC3	79184	HP:0008734	Decreased testicular size
OMIM:300845	BRCC3	79184	HP:0001644	Dilated cardiomyopathy
OMIM:300845	BRCC3	79184	HP:0200055	Small hand
OMIM:300845	BRCC3	79184	HP:0004322	Short stature
OMIM:300845	BRCC3	79184	HP:0000508	Ptosis
OMIM:300845	BRCC3	79184	HP:0001250	Seizures
OMIM:300845	BRCC3	79184	HP:0001500	Broad finger
OMIM:614739	SERAC1	84947	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:614739	SERAC1	84947	HP:0001298	Encephalopathy
OMIM:614739	SERAC1	84947	HP:0001252	Muscular hypotonia
OMIM:614739	SERAC1	84947	HP:0011968	Feeding difficulties
OMIM:614739	SERAC1	84947	HP:0000407	Sensorineural hearing impairment
OMIM:614739	SERAC1	84947	HP:0001257	Spasticity
OMIM:614739	SERAC1	84947	HP:0001332	Dystonia
OMIM:614739	SERAC1	84947	HP:0001987	Hyperammonemia
OMIM:614739	SERAC1	84947	HP:0002151	Increased serum lactate
OMIM:614739	SERAC1	84947	HP:0001263	Global developmental delay
OMIM:614739	SERAC1	84947	HP:0002719	Recurrent infections
OMIM:614739	SERAC1	84947	HP:0000007	Autosomal recessive inheritance
OMIM:614739	SERAC1	84947	HP:0001508	Failure to thrive
OMIM:614739	SERAC1	84947	HP:0012444	Brain atrophy
OMIM:614739	SERAC1	84947	HP:0001249	Intellectual disability
OMIM:614739	SERAC1	84947	HP:0002376	Developmental regression
OMIM:614739	SERAC1	84947	HP:0001272	Cerebellar atrophy
OMIM:614739	SERAC1	84947	HP:0003128	Lactic acidosis
OMIM:614739	SERAC1	84947	HP:0002977	Aplasia/Hypoplasia involving the central nervous system
OMIM:614739	SERAC1	84947	HP:0001250	Seizures
OMIM:614739	SERAC1	84947	HP:0001943	Hypoglycemia
OMIM:166710	VDR	7421	HP:0000939	Osteoporosis
OMIM:166710	VDR	7421	HP:0000006	Autosomal dominant inheritance
OMIM:166710	COL1A2	1278	HP:0000939	Osteoporosis
OMIM:166710	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
ORPHANET:1452	RUNX2	860	HP:0000274	Small face
ORPHANET:1452	RUNX2	860	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:1452	RUNX2	860	HP:0005107	Abnormality of the sacrum
ORPHANET:1452	RUNX2	860	HP:0000340	Sloping forehead
ORPHANET:1452	RUNX2	860	HP:0002205	Recurrent respiratory infections
ORPHANET:1452	RUNX2	860	HP:0000246	Sinusitis
ORPHANET:1452	RUNX2	860	HP:0000175	Cleft palate
ORPHANET:1452	RUNX2	860	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHANET:1452	RUNX2	860	HP:0000316	Hypertelorism
ORPHANET:1452	RUNX2	860	HP:0002650	Scoliosis
ORPHANET:1452	RUNX2	860	HP:0002652	Skeletal dysplasia
ORPHANET:1452	RUNX2	860	HP:0003043	Abnormality of the shoulder
ORPHANET:1452	RUNX2	860	HP:0001156	Brachydactyly syndrome
ORPHANET:1452	RUNX2	860	HP:0000365	Hearing impairment
ORPHANET:1452	RUNX2	860	HP:0001172	Abnormality of the thumb
ORPHANET:1452	RUNX2	860	HP:0002645	Wormian bones
ORPHANET:1452	RUNX2	860	HP:0000347	Micrognathia
ORPHANET:1452	RUNX2	860	HP:0000388	Otitis media
ORPHANET:1452	RUNX2	860	HP:0000889	Abnormality of the clavicle
ORPHANET:1452	RUNX2	860	HP:0001182	Tapered finger
ORPHANET:1452	RUNX2	860	HP:0000684	Delayed eruption of teeth
ORPHANET:1452	RUNX2	860	HP:0000772	Abnormality of the ribs
ORPHANET:1452	RUNX2	860	HP:0004322	Short stature
ORPHANET:1452	RUNX2	860	HP:0000774	Narrow chest
ORPHANET:1452	RUNX2	860	HP:0004349	Reduced bone mineral density
ORPHANET:1452	RUNX2	860	HP:0000689	Dental malocclusion
ORPHANET:1452	RUNX2	860	HP:0004331	Decreased skull ossification
ORPHANET:1452	RUNX2	860	HP:0002104	Apnea
ORPHANET:1452	RUNX2	860	HP:0002857	Genu valgum
ORPHANET:1452	RUNX2	860	HP:0002757	Recurrent fractures
ORPHANET:1452	RUNX2	860	HP:0002007	Frontal bossing
ORPHANET:1452	RUNX2	860	HP:0000256	Macrocephaly
OMIM:604454	TIA1	7072	HP:0002460	Distal muscle weakness
OMIM:604454	TIA1	7072	HP:0003693	Distal amyotrophy
OMIM:604454	TIA1	7072	HP:0003805	Rimmed vacuoles
OMIM:604454	TIA1	7072	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:604454	TIA1	7072	HP:0000007	Autosomal recessive inheritance
OMIM:604454	TIA1	7072	HP:0000006	Autosomal dominant inheritance
OMIM:604454	TIA1	7072	HP:0003198	Myopathy
OMIM:604454	TIA1	7072	HP:0003376	Steppage gait
OMIM:604454	TIA1	7072	HP:0003677	Slow progression
OMIM:607516	SCN1A	6323	HP:0000613	Photophobia
OMIM:607516	SCN1A	6323	HP:0002013	Vomiting
OMIM:607516	SCN1A	6323	HP:0002018	Nausea
OMIM:607516	SCN1A	6323	HP:0002183	Phonophobia
OMIM:607516	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:607516	CACNA1A	773	HP:0000613	Photophobia
OMIM:607516	CACNA1A	773	HP:0002013	Vomiting
OMIM:607516	CACNA1A	773	HP:0002018	Nausea
OMIM:607516	CACNA1A	773	HP:0002183	Phonophobia
OMIM:607516	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:607516	ATP1A2	477	HP:0000613	Photophobia
OMIM:607516	ATP1A2	477	HP:0002013	Vomiting
OMIM:607516	ATP1A2	477	HP:0002018	Nausea
OMIM:607516	ATP1A2	477	HP:0002183	Phonophobia
OMIM:607516	ATP1A2	477	HP:0000006	Autosomal dominant inheritance
OMIM:607516	PRRT2	112476	HP:0000613	Photophobia
OMIM:607516	PRRT2	112476	HP:0002013	Vomiting
OMIM:607516	PRRT2	112476	HP:0002018	Nausea
OMIM:607516	PRRT2	112476	HP:0002183	Phonophobia
OMIM:607516	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
ORPHANET:3329	BHLHA9	727857	HP:0000396	Overfolded helix
ORPHANET:3329	BHLHA9	727857	HP:0001171	Split hand
ORPHANET:3329	BHLHA9	727857	HP:0001177	Preaxial hand polydactyly
ORPHANET:3329	BHLHA9	727857	HP:0001376	Limitation of joint mobility
ORPHANET:3329	BHLHA9	727857	HP:0002997	Abnormality of the ulna
ORPHANET:3329	BHLHA9	727857	HP:0002991	Abnormality of the fibula
ORPHANET:3329	BHLHA9	727857	HP:0001156	Brachydactyly syndrome
ORPHANET:3329	BHLHA9	727857	HP:0001539	Omphalocele
ORPHANET:3329	BHLHA9	727857	HP:0002823	Abnormality of the femur
ORPHANET:3329	BHLHA9	727857	HP:0006443	Patellar aplasia
ORPHANET:3329	BHLHA9	727857	HP:0001162	Postaxial hand polydactyly
ORPHANET:3329	BHLHA9	727857	HP:0002992	Abnormality of the tibia
ORPHANET:3329	BHLHA9	727857	HP:0006101	Finger syndactyly
OMIM:215450	NKX2-1	7080	HP:0002072	Chorea
OMIM:215450	NKX2-1	7080	HP:0000007	Autosomal recessive inheritance
OMIM:215450	ADCY5	111	HP:0002072	Chorea
OMIM:215450	ADCY5	111	HP:0000007	Autosomal recessive inheritance
OMIM:101400	FGFR3	2261	HP:0000248	Brachycephaly
OMIM:101400	FGFR3	2261	HP:0001156	Brachydactyly syndrome
OMIM:101400	FGFR3	2261	HP:0006101	Finger syndactyly
OMIM:101400	FGFR3	2261	HP:0001250	Seizures
OMIM:101400	FGFR3	2261	HP:0001822	Hallux valgus
OMIM:101400	FGFR3	2261	HP:0002076	Migraine
OMIM:101400	FGFR3	2261	HP:0003312	Abnormal form of the vertebral bodies
OMIM:101400	FGFR3	2261	HP:0004209	Clinodactyly of the 5th finger
OMIM:101400	FGFR3	2261	HP:0000175	Cleft palate
OMIM:101400	FGFR3	2261	HP:0000508	Ptosis
OMIM:101400	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:101400	FGFR3	2261	HP:0000028	Cryptorchidism
OMIM:101400	FGFR3	2261	HP:0000444	Convex nasal ridge
OMIM:101400	FGFR3	2261	HP:0000954	Single transverse palmar crease
OMIM:101400	FGFR3	2261	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:101400	FGFR3	2261	HP:0000413	Atresia of the external auditory canal
OMIM:101400	FGFR3	2261	HP:0012368	Flat face
OMIM:101400	FGFR3	2261	HP:0003828	Variable expressivity
OMIM:101400	FGFR3	2261	HP:0000316	Hypertelorism
OMIM:101400	FGFR3	2261	HP:0000405	Conductive hearing impairment
OMIM:101400	FGFR3	2261	HP:0001770	Toe syndactyly
OMIM:101400	FGFR3	2261	HP:0008551	Microtia
OMIM:101400	FGFR3	2261	HP:0000486	Strabismus
OMIM:101400	FGFR3	2261	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:101400	FGFR3	2261	HP:0100543	Cognitive impairment
OMIM:101400	FGFR3	2261	HP:0002104	Apnea
OMIM:101400	FGFR3	2261	HP:0000294	Low anterior hairline
OMIM:101400	FGFR3	2261	HP:0004443	Lambdoidal craniosynostosis
OMIM:101400	FGFR3	2261	HP:0000505	Visual impairment
OMIM:101400	FGFR3	2261	HP:0002650	Scoliosis
OMIM:101400	FGFR3	2261	HP:0000348	High forehead
OMIM:101400	FGFR3	2261	HP:0004322	Short stature
OMIM:101400	FGFR3	2261	HP:0000263	Oxycephaly
OMIM:101400	FGFR3	2261	HP:0003189	Long nose
OMIM:101400	FGFR3	2261	HP:0001363	Craniosynostosis
OMIM:101400	FGFR3	2261	HP:0002697	Parietal foramina
OMIM:101400	FGFR3	2261	HP:0000270	Delayed cranial suture closure
OMIM:101400	FGFR3	2261	HP:0001357	Plagiocephaly
OMIM:101400	FGFR3	2261	HP:0000324	Facial asymmetry
OMIM:101400	FGFR3	2261	HP:0000557	Buphthalmos
OMIM:101400	FGFR3	2261	HP:0002974	Radioulnar synostosis
OMIM:101400	FGFR3	2261	HP:0000407	Sensorineural hearing impairment
OMIM:101400	FGFR3	2261	HP:0008572	External ear malformation
OMIM:101400	FGFR3	2261	HP:0002342	Intellectual disability, moderate
OMIM:101400	FGFR3	2261	HP:0000648	Optic atrophy
OMIM:101400	FGFR3	2261	HP:0000189	Narrow palate
OMIM:101400	FGFR3	2261	HP:0000272	Malar flattening
OMIM:101400	FGFR3	2261	HP:0000369	Low-set ears
OMIM:101400	FGFR3	2261	HP:0003002	Breast carcinoma
OMIM:101400	FGFR3	2261	HP:0004440	Coronal craniosynostosis
OMIM:101400	FGFR3	2261	HP:0000365	Hearing impairment
OMIM:101400	FGFR3	2261	HP:0000327	Hypoplasia of the maxilla
OMIM:101400	FGFR3	2261	HP:0000368	Low-set, posteriorly rotated ears
OMIM:101400	FGFR2	2263	HP:0000248	Brachycephaly
OMIM:101400	FGFR2	2263	HP:0001156	Brachydactyly syndrome
OMIM:101400	FGFR2	2263	HP:0006101	Finger syndactyly
OMIM:101400	FGFR2	2263	HP:0001250	Seizures
OMIM:101400	FGFR2	2263	HP:0001822	Hallux valgus
OMIM:101400	FGFR2	2263	HP:0002076	Migraine
OMIM:101400	FGFR2	2263	HP:0003312	Abnormal form of the vertebral bodies
OMIM:101400	FGFR2	2263	HP:0004209	Clinodactyly of the 5th finger
OMIM:101400	FGFR2	2263	HP:0000175	Cleft palate
OMIM:101400	FGFR2	2263	HP:0000508	Ptosis
OMIM:101400	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:101400	FGFR2	2263	HP:0000028	Cryptorchidism
OMIM:101400	FGFR2	2263	HP:0000444	Convex nasal ridge
OMIM:101400	FGFR2	2263	HP:0000954	Single transverse palmar crease
OMIM:101400	FGFR2	2263	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:101400	FGFR2	2263	HP:0000413	Atresia of the external auditory canal
OMIM:101400	FGFR2	2263	HP:0012368	Flat face
OMIM:101400	FGFR2	2263	HP:0003828	Variable expressivity
OMIM:101400	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:101400	FGFR2	2263	HP:0000405	Conductive hearing impairment
OMIM:101400	FGFR2	2263	HP:0001770	Toe syndactyly
OMIM:101400	FGFR2	2263	HP:0008551	Microtia
OMIM:101400	FGFR2	2263	HP:0000486	Strabismus
OMIM:101400	FGFR2	2263	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:101400	FGFR2	2263	HP:0100543	Cognitive impairment
OMIM:101400	FGFR2	2263	HP:0002104	Apnea
OMIM:101400	FGFR2	2263	HP:0000294	Low anterior hairline
OMIM:101400	FGFR2	2263	HP:0004443	Lambdoidal craniosynostosis
OMIM:101400	FGFR2	2263	HP:0000505	Visual impairment
OMIM:101400	FGFR2	2263	HP:0002650	Scoliosis
OMIM:101400	FGFR2	2263	HP:0000348	High forehead
OMIM:101400	FGFR2	2263	HP:0004322	Short stature
OMIM:101400	FGFR2	2263	HP:0000263	Oxycephaly
OMIM:101400	FGFR2	2263	HP:0003189	Long nose
OMIM:101400	FGFR2	2263	HP:0001363	Craniosynostosis
OMIM:101400	FGFR2	2263	HP:0002697	Parietal foramina
OMIM:101400	FGFR2	2263	HP:0000270	Delayed cranial suture closure
OMIM:101400	FGFR2	2263	HP:0001357	Plagiocephaly
OMIM:101400	FGFR2	2263	HP:0000324	Facial asymmetry
OMIM:101400	FGFR2	2263	HP:0000557	Buphthalmos
OMIM:101400	FGFR2	2263	HP:0002974	Radioulnar synostosis
OMIM:101400	FGFR2	2263	HP:0000407	Sensorineural hearing impairment
OMIM:101400	FGFR2	2263	HP:0008572	External ear malformation
OMIM:101400	FGFR2	2263	HP:0002342	Intellectual disability, moderate
OMIM:101400	FGFR2	2263	HP:0000648	Optic atrophy
OMIM:101400	FGFR2	2263	HP:0000189	Narrow palate
OMIM:101400	FGFR2	2263	HP:0000272	Malar flattening
OMIM:101400	FGFR2	2263	HP:0000369	Low-set ears
OMIM:101400	FGFR2	2263	HP:0003002	Breast carcinoma
OMIM:101400	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:101400	FGFR2	2263	HP:0000365	Hearing impairment
OMIM:101400	FGFR2	2263	HP:0000327	Hypoplasia of the maxilla
OMIM:101400	FGFR2	2263	HP:0000368	Low-set, posteriorly rotated ears
OMIM:101400	TWIST1	7291	HP:0000248	Brachycephaly
OMIM:101400	TWIST1	7291	HP:0001156	Brachydactyly syndrome
OMIM:101400	TWIST1	7291	HP:0006101	Finger syndactyly
OMIM:101400	TWIST1	7291	HP:0001250	Seizures
OMIM:101400	TWIST1	7291	HP:0001822	Hallux valgus
OMIM:101400	TWIST1	7291	HP:0002076	Migraine
OMIM:101400	TWIST1	7291	HP:0003312	Abnormal form of the vertebral bodies
OMIM:101400	TWIST1	7291	HP:0004209	Clinodactyly of the 5th finger
OMIM:101400	TWIST1	7291	HP:0000175	Cleft palate
OMIM:101400	TWIST1	7291	HP:0000508	Ptosis
OMIM:101400	TWIST1	7291	HP:0000006	Autosomal dominant inheritance
OMIM:101400	TWIST1	7291	HP:0000028	Cryptorchidism
OMIM:101400	TWIST1	7291	HP:0000444	Convex nasal ridge
OMIM:101400	TWIST1	7291	HP:0000954	Single transverse palmar crease
OMIM:101400	TWIST1	7291	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:101400	TWIST1	7291	HP:0000413	Atresia of the external auditory canal
OMIM:101400	TWIST1	7291	HP:0012368	Flat face
OMIM:101400	TWIST1	7291	HP:0003828	Variable expressivity
OMIM:101400	TWIST1	7291	HP:0000316	Hypertelorism
OMIM:101400	TWIST1	7291	HP:0000405	Conductive hearing impairment
OMIM:101400	TWIST1	7291	HP:0001770	Toe syndactyly
OMIM:101400	TWIST1	7291	HP:0008551	Microtia
OMIM:101400	TWIST1	7291	HP:0000486	Strabismus
OMIM:101400	TWIST1	7291	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:101400	TWIST1	7291	HP:0100543	Cognitive impairment
OMIM:101400	TWIST1	7291	HP:0002104	Apnea
OMIM:101400	TWIST1	7291	HP:0000294	Low anterior hairline
OMIM:101400	TWIST1	7291	HP:0004443	Lambdoidal craniosynostosis
OMIM:101400	TWIST1	7291	HP:0000505	Visual impairment
OMIM:101400	TWIST1	7291	HP:0002650	Scoliosis
OMIM:101400	TWIST1	7291	HP:0000348	High forehead
OMIM:101400	TWIST1	7291	HP:0004322	Short stature
OMIM:101400	TWIST1	7291	HP:0000263	Oxycephaly
OMIM:101400	TWIST1	7291	HP:0003189	Long nose
OMIM:101400	TWIST1	7291	HP:0001363	Craniosynostosis
OMIM:101400	TWIST1	7291	HP:0002697	Parietal foramina
OMIM:101400	TWIST1	7291	HP:0000270	Delayed cranial suture closure
OMIM:101400	TWIST1	7291	HP:0001357	Plagiocephaly
OMIM:101400	TWIST1	7291	HP:0000324	Facial asymmetry
OMIM:101400	TWIST1	7291	HP:0000557	Buphthalmos
OMIM:101400	TWIST1	7291	HP:0002974	Radioulnar synostosis
OMIM:101400	TWIST1	7291	HP:0000407	Sensorineural hearing impairment
OMIM:101400	TWIST1	7291	HP:0008572	External ear malformation
OMIM:101400	TWIST1	7291	HP:0002342	Intellectual disability, moderate
OMIM:101400	TWIST1	7291	HP:0000648	Optic atrophy
OMIM:101400	TWIST1	7291	HP:0000189	Narrow palate
OMIM:101400	TWIST1	7291	HP:0000272	Malar flattening
OMIM:101400	TWIST1	7291	HP:0000369	Low-set ears
OMIM:101400	TWIST1	7291	HP:0003002	Breast carcinoma
OMIM:101400	TWIST1	7291	HP:0004440	Coronal craniosynostosis
OMIM:101400	TWIST1	7291	HP:0000365	Hearing impairment
OMIM:101400	TWIST1	7291	HP:0000327	Hypoplasia of the maxilla
OMIM:101400	TWIST1	7291	HP:0000368	Low-set, posteriorly rotated ears
OMIM:137950	FN1	2335	HP:0000093	Proteinuria
OMIM:137950	FN1	2335	HP:0003677	Slow progression
OMIM:137950	FN1	2335	HP:0003774	Stage 5 chronic kidney disease
OMIM:137950	FN1	2335	HP:0000006	Autosomal dominant inheritance
OMIM:137950	FN1	2335	HP:0000112	Nephropathy
OMIM:137950	FN1	2335	HP:0000100	Nephrotic syndrome
OMIM:137950	FN1	2335	HP:0000822	Hypertension
OMIM:188570	THRB	7068	HP:0007018	Attention deficit hyperactivity disorder
OMIM:188570	THRB	7068	HP:0000006	Autosomal dominant inheritance
OMIM:188570	THRB	7068	HP:0000750	Delayed speech and language development
OMIM:188570	THRB	7068	HP:0000853	Goiter
OMIM:192500	CALM1	801	HP:0001645	Sudden cardiac death
OMIM:192500	CALM1	801	HP:0001663	Ventricular fibrillation
OMIM:192500	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:192500	CALM1	801	HP:0000598	Abnormality of the ear
OMIM:192500	CALM1	801	HP:0001425	Heterogeneous
OMIM:192500	CALM1	801	HP:0001664	Torsade de pointes
OMIM:192500	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:192500	CALM1	801	HP:0001279	Syncope
OMIM:192500	CALM2	805	HP:0001645	Sudden cardiac death
OMIM:192500	CALM2	805	HP:0001663	Ventricular fibrillation
OMIM:192500	CALM2	805	HP:0001657	Prolonged QT interval
OMIM:192500	CALM2	805	HP:0000598	Abnormality of the ear
OMIM:192500	CALM2	805	HP:0001425	Heterogeneous
OMIM:192500	CALM2	805	HP:0001664	Torsade de pointes
OMIM:192500	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:192500	CALM2	805	HP:0001279	Syncope
OMIM:192500	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:192500	KCNQ1	3784	HP:0001663	Ventricular fibrillation
OMIM:192500	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:192500	KCNQ1	3784	HP:0000598	Abnormality of the ear
OMIM:192500	KCNQ1	3784	HP:0001425	Heterogeneous
OMIM:192500	KCNQ1	3784	HP:0001664	Torsade de pointes
OMIM:192500	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:192500	KCNQ1	3784	HP:0001279	Syncope
OMIM:192500	KCNE2	9992	HP:0001645	Sudden cardiac death
OMIM:192500	KCNE2	9992	HP:0001663	Ventricular fibrillation
OMIM:192500	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:192500	KCNE2	9992	HP:0000598	Abnormality of the ear
OMIM:192500	KCNE2	9992	HP:0001425	Heterogeneous
OMIM:192500	KCNE2	9992	HP:0001664	Torsade de pointes
OMIM:192500	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:192500	KCNE2	9992	HP:0001279	Syncope
OMIM:192500	KCNE1	3753	HP:0001645	Sudden cardiac death
OMIM:192500	KCNE1	3753	HP:0001663	Ventricular fibrillation
OMIM:192500	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:192500	KCNE1	3753	HP:0000598	Abnormality of the ear
OMIM:192500	KCNE1	3753	HP:0001425	Heterogeneous
OMIM:192500	KCNE1	3753	HP:0001664	Torsade de pointes
OMIM:192500	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:192500	KCNE1	3753	HP:0001279	Syncope
OMIM:192500	KCNH2	3757	HP:0001645	Sudden cardiac death
OMIM:192500	KCNH2	3757	HP:0001663	Ventricular fibrillation
OMIM:192500	KCNH2	3757	HP:0001657	Prolonged QT interval
OMIM:192500	KCNH2	3757	HP:0000598	Abnormality of the ear
OMIM:192500	KCNH2	3757	HP:0001425	Heterogeneous
OMIM:192500	KCNH2	3757	HP:0001664	Torsade de pointes
OMIM:192500	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:192500	KCNH2	3757	HP:0001279	Syncope
OMIM:192500	SNTA1	6640	HP:0001645	Sudden cardiac death
OMIM:192500	SNTA1	6640	HP:0001663	Ventricular fibrillation
OMIM:192500	SNTA1	6640	HP:0001657	Prolonged QT interval
OMIM:192500	SNTA1	6640	HP:0000598	Abnormality of the ear
OMIM:192500	SNTA1	6640	HP:0001425	Heterogeneous
OMIM:192500	SNTA1	6640	HP:0001664	Torsade de pointes
OMIM:192500	SNTA1	6640	HP:0000006	Autosomal dominant inheritance
OMIM:192500	SNTA1	6640	HP:0001279	Syncope
OMIM:192500	KCNJ5	3762	HP:0001645	Sudden cardiac death
OMIM:192500	KCNJ5	3762	HP:0001663	Ventricular fibrillation
OMIM:192500	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:192500	KCNJ5	3762	HP:0000598	Abnormality of the ear
OMIM:192500	KCNJ5	3762	HP:0001425	Heterogeneous
OMIM:192500	KCNJ5	3762	HP:0001664	Torsade de pointes
OMIM:192500	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:192500	KCNJ5	3762	HP:0001279	Syncope
OMIM:192500	SCN4B	6330	HP:0001645	Sudden cardiac death
OMIM:192500	SCN4B	6330	HP:0001663	Ventricular fibrillation
OMIM:192500	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:192500	SCN4B	6330	HP:0000598	Abnormality of the ear
OMIM:192500	SCN4B	6330	HP:0001425	Heterogeneous
OMIM:192500	SCN4B	6330	HP:0001664	Torsade de pointes
OMIM:192500	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:192500	SCN4B	6330	HP:0001279	Syncope
OMIM:192500	NOS1AP	9722	HP:0001645	Sudden cardiac death
OMIM:192500	NOS1AP	9722	HP:0001663	Ventricular fibrillation
OMIM:192500	NOS1AP	9722	HP:0001657	Prolonged QT interval
OMIM:192500	NOS1AP	9722	HP:0000598	Abnormality of the ear
OMIM:192500	NOS1AP	9722	HP:0001425	Heterogeneous
OMIM:192500	NOS1AP	9722	HP:0001664	Torsade de pointes
OMIM:192500	NOS1AP	9722	HP:0000006	Autosomal dominant inheritance
OMIM:192500	NOS1AP	9722	HP:0001279	Syncope
OMIM:192500	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:192500	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:192500	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:192500	SCN5A	6331	HP:0000598	Abnormality of the ear
OMIM:192500	SCN5A	6331	HP:0001425	Heterogeneous
OMIM:192500	SCN5A	6331	HP:0001664	Torsade de pointes
OMIM:192500	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:192500	SCN5A	6331	HP:0001279	Syncope
OMIM:192500	CAV3	859	HP:0001645	Sudden cardiac death
OMIM:192500	CAV3	859	HP:0001663	Ventricular fibrillation
OMIM:192500	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:192500	CAV3	859	HP:0000598	Abnormality of the ear
OMIM:192500	CAV3	859	HP:0001425	Heterogeneous
OMIM:192500	CAV3	859	HP:0001664	Torsade de pointes
OMIM:192500	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:192500	CAV3	859	HP:0001279	Syncope
OMIM:192500	AKAP9	10142	HP:0001645	Sudden cardiac death
OMIM:192500	AKAP9	10142	HP:0001663	Ventricular fibrillation
OMIM:192500	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:192500	AKAP9	10142	HP:0000598	Abnormality of the ear
OMIM:192500	AKAP9	10142	HP:0001425	Heterogeneous
OMIM:192500	AKAP9	10142	HP:0001664	Torsade de pointes
OMIM:192500	AKAP9	10142	HP:0000006	Autosomal dominant inheritance
OMIM:192500	AKAP9	10142	HP:0001279	Syncope
OMIM:192500	ANK2	287	HP:0001645	Sudden cardiac death
OMIM:192500	ANK2	287	HP:0001663	Ventricular fibrillation
OMIM:192500	ANK2	287	HP:0001657	Prolonged QT interval
OMIM:192500	ANK2	287	HP:0000598	Abnormality of the ear
OMIM:192500	ANK2	287	HP:0001425	Heterogeneous
OMIM:192500	ANK2	287	HP:0001664	Torsade de pointes
OMIM:192500	ANK2	287	HP:0000006	Autosomal dominant inheritance
OMIM:192500	ANK2	287	HP:0001279	Syncope
OMIM:180920	FGF10	2255	HP:0000006	Autosomal dominant inheritance
OMIM:180920	FGF10	2255	HP:0000670	Carious teeth
OMIM:180920	FGF10	2255	HP:0000217	Xerostomia
OMIM:144600	APOA5	116519	HP:0002155	Hypertriglyceridemia
OMIM:144600	APOA5	116519	HP:0001952	Abnormal glucose tolerance
OMIM:144600	APOA5	116519	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:144600	APOA5	116519	HP:0001425	Heterogeneous
OMIM:144600	APOA5	116519	HP:0000006	Autosomal dominant inheritance
OMIM:144600	LIPI	149998	HP:0002155	Hypertriglyceridemia
OMIM:144600	LIPI	149998	HP:0001952	Abnormal glucose tolerance
OMIM:144600	LIPI	149998	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:144600	LIPI	149998	HP:0001425	Heterogeneous
OMIM:144600	LIPI	149998	HP:0000006	Autosomal dominant inheritance
OMIM:612001	CHRNA7	1139	HP:0001999	Abnormal facial shape
OMIM:612001	CHRNA7	1139	HP:0001250	Seizures
OMIM:612001	CHRNA7	1139	HP:0000486	Strabismus
OMIM:612001	CHRNA7	1139	HP:0004322	Short stature
OMIM:612001	CHRNA7	1139	HP:0000494	Downslanted palpebral fissures
OMIM:612001	CHRNA7	1139	HP:0000708	Behavioral abnormality
OMIM:612001	CHRNA7	1139	HP:0007018	Attention deficit hyperactivity disorder
OMIM:612001	CHRNA7	1139	HP:0010864	Intellectual disability, severe
OMIM:612001	CHRNA7	1139	HP:0003812	Phenotypic variability
OMIM:612001	CHRNA7	1139	HP:0000377	Abnormality of the pinna
OMIM:612001	CHRNA7	1139	HP:0000316	Hypertelorism
OMIM:612001	CHRNA7	1139	HP:0005105	Abnormal nasal morphology
OMIM:612001	CHRNA7	1139	HP:0004209	Clinodactyly of the 5th finger
OMIM:612001	CHRNA7	1139	HP:0000256	Macrocephaly
OMIM:612001	CHRNA7	1139	HP:0001156	Brachydactyly syndrome
OMIM:612001	CHRNA7	1139	HP:0001252	Muscular hypotonia
OMIM:612001	CHRNA7	1139	HP:0000664	Synophrys
OMIM:612001	CHRNA7	1139	HP:0000252	Microcephaly
OMIM:612001	CHRNA7	1139	HP:0002007	Frontal bossing
OMIM:612001	CHRNA7	1139	HP:0008050	Abnormality of the palpebral fissures
OMIM:612001	CHRNA7	1139	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:612001	CHRNA7	1139	HP:0000006	Autosomal dominant inheritance
OMIM:612001	CHRNA7	1139	HP:0002342	Intellectual disability, moderate
OMIM:612001	CHRNA7	1139	HP:0003829	Incomplete penetrance
OMIM:612001	CHRNA7	1139	HP:0100543	Cognitive impairment
OMIM:612001	CHRNA7	1139	HP:0000368	Low-set, posteriorly rotated ears
OMIM:612001	CHRNA7	1139	HP:0000995	Melanocytic nevus
OMIM:612001	CHRNA7	1139	HP:0000717	Autism
OMIM:612001	CHRNA7	1139	HP:0001328	Specific learning disability
OMIM:612001	CHRNA7	1139	HP:0000286	Epicanthus
OMIM:612001	CHRNA7	1139	HP:0001256	Intellectual disability, mild
OMIM:269720	KCNQ2	3785	HP:0000007	Autosomal recessive inheritance
OMIM:269720	KCNQ2	3785	HP:0002069	Generalized tonic-clonic seizures
OMIM:269720	KCNQ2	3785	HP:0001276	Hypertonia
OMIM:269720	KCNQ3	3786	HP:0000007	Autosomal recessive inheritance
OMIM:269720	KCNQ3	3786	HP:0002069	Generalized tonic-clonic seizures
OMIM:269720	KCNQ3	3786	HP:0001276	Hypertonia
OMIM:608340	GDAP1	54332	HP:0003445	EMG: neuropathic changes
OMIM:608340	GDAP1	54332	HP:0003690	Limb muscle weakness
OMIM:608340	GDAP1	54332	HP:0001761	Pes cavus
OMIM:608340	GDAP1	54332	HP:0001265	Hyporeflexia
OMIM:608340	GDAP1	54332	HP:0003376	Steppage gait
OMIM:608340	GDAP1	54332	HP:0009830	Peripheral neuropathy
OMIM:608340	GDAP1	54332	HP:0000007	Autosomal recessive inheritance
OMIM:608340	GDAP1	54332	HP:0011463	Childhood onset
OMIM:608340	GDAP1	54332	HP:0001762	Talipes equinovarus
OMIM:608340	GDAP1	54332	HP:0003693	Distal amyotrophy
OMIM:608340	GDAP1	54332	HP:0001284	Areflexia
OMIM:608340	GDAP1	54332	HP:0001178	Ulnar claw
OMIM:608340	GDAP1	54332	HP:0009027	Foot dorsiflexor weakness
OMIM:608340	GDAP1	54332	HP:0011096	Peripheral demyelination
OMIM:608340	GDAP1	54332	HP:0002650	Scoliosis
OMIM:608340	GDAP1	54332	HP:0003383	Onion bulb formation
OMIM:608340	GDAP1	54332	HP:0002936	Distal sensory impairment
OMIM:615988	MKKS	8195	HP:0001513	Obesity
OMIM:615988	MKKS	8195	HP:0000077	Abnormality of the kidney
OMIM:615988	MKKS	8195	HP:0000488	Retinopathy
OMIM:615988	MKKS	8195	HP:0000135	Hypogonadism
OMIM:615988	MKKS	8195	HP:0010442	Polydactyly
OMIM:615988	NPHP1	4867	HP:0001513	Obesity
OMIM:615988	NPHP1	4867	HP:0000077	Abnormality of the kidney
OMIM:615988	NPHP1	4867	HP:0000488	Retinopathy
OMIM:615988	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:615988	NPHP1	4867	HP:0010442	Polydactyly
OMIM:615988	BBIP1	92482	HP:0001513	Obesity
OMIM:615988	BBIP1	92482	HP:0000077	Abnormality of the kidney
OMIM:615988	BBIP1	92482	HP:0000488	Retinopathy
OMIM:615988	BBIP1	92482	HP:0000135	Hypogonadism
OMIM:615988	BBIP1	92482	HP:0010442	Polydactyly
OMIM:615988	ARL6	84100	HP:0001513	Obesity
OMIM:615988	ARL6	84100	HP:0000077	Abnormality of the kidney
OMIM:615988	ARL6	84100	HP:0000488	Retinopathy
OMIM:615988	ARL6	84100	HP:0000135	Hypogonadism
OMIM:615988	ARL6	84100	HP:0010442	Polydactyly
OMIM:615988	BBS1	582	HP:0001513	Obesity
OMIM:615988	BBS1	582	HP:0000077	Abnormality of the kidney
OMIM:615988	BBS1	582	HP:0000488	Retinopathy
OMIM:615988	BBS1	582	HP:0000135	Hypogonadism
OMIM:615988	BBS1	582	HP:0010442	Polydactyly
OMIM:615988	BBS2	583	HP:0001513	Obesity
OMIM:615988	BBS2	583	HP:0000077	Abnormality of the kidney
OMIM:615988	BBS2	583	HP:0000488	Retinopathy
OMIM:615988	BBS2	583	HP:0000135	Hypogonadism
OMIM:615988	BBS2	583	HP:0010442	Polydactyly
OMIM:615988	BBS4	585	HP:0001513	Obesity
OMIM:615988	BBS4	585	HP:0000077	Abnormality of the kidney
OMIM:615988	BBS4	585	HP:0000488	Retinopathy
OMIM:615988	BBS4	585	HP:0000135	Hypogonadism
OMIM:615988	BBS4	585	HP:0010442	Polydactyly
OMIM:615988	BBS9	27241	HP:0001513	Obesity
OMIM:615988	BBS9	27241	HP:0000077	Abnormality of the kidney
OMIM:615988	BBS9	27241	HP:0000488	Retinopathy
OMIM:615988	BBS9	27241	HP:0000135	Hypogonadism
OMIM:615988	BBS9	27241	HP:0010442	Polydactyly
OMIM:615988	TTC8	123016	HP:0001513	Obesity
OMIM:615988	TTC8	123016	HP:0000077	Abnormality of the kidney
OMIM:615988	TTC8	123016	HP:0000488	Retinopathy
OMIM:615988	TTC8	123016	HP:0000135	Hypogonadism
OMIM:615988	TTC8	123016	HP:0010442	Polydactyly
OMIM:615988	BBS12	166379	HP:0001513	Obesity
OMIM:615988	BBS12	166379	HP:0000077	Abnormality of the kidney
OMIM:615988	BBS12	166379	HP:0000488	Retinopathy
OMIM:615988	BBS12	166379	HP:0000135	Hypogonadism
OMIM:615988	BBS12	166379	HP:0010442	Polydactyly
OMIM:615988	TRIM32	22954	HP:0001513	Obesity
OMIM:615988	TRIM32	22954	HP:0000077	Abnormality of the kidney
OMIM:615988	TRIM32	22954	HP:0000488	Retinopathy
OMIM:615988	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:615988	TRIM32	22954	HP:0010442	Polydactyly
OMIM:615988	BBS7	55212	HP:0001513	Obesity
OMIM:615988	BBS7	55212	HP:0000077	Abnormality of the kidney
OMIM:615988	BBS7	55212	HP:0000488	Retinopathy
OMIM:615988	BBS7	55212	HP:0000135	Hypogonadism
OMIM:615988	BBS7	55212	HP:0010442	Polydactyly
OMIM:615988	IFT27	11020	HP:0001513	Obesity
OMIM:615988	IFT27	11020	HP:0000077	Abnormality of the kidney
OMIM:615988	IFT27	11020	HP:0000488	Retinopathy
OMIM:615988	IFT27	11020	HP:0000135	Hypogonadism
OMIM:615988	IFT27	11020	HP:0010442	Polydactyly
OMIM:615988	IFT172	26160	HP:0001513	Obesity
OMIM:615988	IFT172	26160	HP:0000077	Abnormality of the kidney
OMIM:615988	IFT172	26160	HP:0000488	Retinopathy
OMIM:615988	IFT172	26160	HP:0000135	Hypogonadism
OMIM:615988	IFT172	26160	HP:0010442	Polydactyly
OMIM:615988	WDPCP	51057	HP:0001513	Obesity
OMIM:615988	WDPCP	51057	HP:0000077	Abnormality of the kidney
OMIM:615988	WDPCP	51057	HP:0000488	Retinopathy
OMIM:615988	WDPCP	51057	HP:0000135	Hypogonadism
OMIM:615988	WDPCP	51057	HP:0010442	Polydactyly
OMIM:615988	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615988	SDCCAG8	10806	HP:0000077	Abnormality of the kidney
OMIM:615988	SDCCAG8	10806	HP:0000488	Retinopathy
OMIM:615988	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:615988	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:615988	MKS1	54903	HP:0001513	Obesity
OMIM:615988	MKS1	54903	HP:0000077	Abnormality of the kidney
OMIM:615988	MKS1	54903	HP:0000488	Retinopathy
OMIM:615988	MKS1	54903	HP:0000135	Hypogonadism
OMIM:615988	MKS1	54903	HP:0010442	Polydactyly
OMIM:615988	BBS5	129880	HP:0001513	Obesity
OMIM:615988	BBS5	129880	HP:0000077	Abnormality of the kidney
OMIM:615988	BBS5	129880	HP:0000488	Retinopathy
OMIM:615988	BBS5	129880	HP:0000135	Hypogonadism
OMIM:615988	BBS5	129880	HP:0010442	Polydactyly
OMIM:615988	CEP290	80184	HP:0001513	Obesity
OMIM:615988	CEP290	80184	HP:0000077	Abnormality of the kidney
OMIM:615988	CEP290	80184	HP:0000488	Retinopathy
OMIM:615988	CEP290	80184	HP:0000135	Hypogonadism
OMIM:615988	CEP290	80184	HP:0010442	Polydactyly
OMIM:615988	LZTFL1	54585	HP:0001513	Obesity
OMIM:615988	LZTFL1	54585	HP:0000077	Abnormality of the kidney
OMIM:615988	LZTFL1	54585	HP:0000488	Retinopathy
OMIM:615988	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:615988	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:615988	BBS10	79738	HP:0001513	Obesity
OMIM:615988	BBS10	79738	HP:0000077	Abnormality of the kidney
OMIM:615988	BBS10	79738	HP:0000488	Retinopathy
OMIM:615988	BBS10	79738	HP:0000135	Hypogonadism
OMIM:615988	BBS10	79738	HP:0010442	Polydactyly
OMIM:149400	SLC6A5	9152	HP:0000006	Autosomal dominant inheritance
OMIM:149400	SLC6A5	9152	HP:0002104	Apnea
OMIM:149400	SLC6A5	9152	HP:0002359	Frequent falls
OMIM:149400	SLC6A5	9152	HP:0000007	Autosomal recessive inheritance
OMIM:149400	SLC6A5	9152	HP:0001537	Umbilical hernia
OMIM:149400	SLC6A5	9152	HP:0001250	Seizures
OMIM:149400	SLC6A5	9152	HP:0001276	Hypertonia
OMIM:149400	SLC6A5	9152	HP:0003593	Infantile onset
OMIM:149400	SLC6A5	9152	HP:0002827	Hip dislocation
OMIM:149400	SLC6A5	9152	HP:0001336	Myoclonus
OMIM:149400	SLC6A5	9152	HP:0000023	Inguinal hernia
OMIM:149400	SLC6A5	9152	HP:0002267	Exaggerated startle response
OMIM:149400	GPHN	10243	HP:0000006	Autosomal dominant inheritance
OMIM:149400	GPHN	10243	HP:0002104	Apnea
OMIM:149400	GPHN	10243	HP:0002359	Frequent falls
OMIM:149400	GPHN	10243	HP:0000007	Autosomal recessive inheritance
OMIM:149400	GPHN	10243	HP:0001537	Umbilical hernia
OMIM:149400	GPHN	10243	HP:0001250	Seizures
OMIM:149400	GPHN	10243	HP:0001276	Hypertonia
OMIM:149400	GPHN	10243	HP:0003593	Infantile onset
OMIM:149400	GPHN	10243	HP:0002827	Hip dislocation
OMIM:149400	GPHN	10243	HP:0001336	Myoclonus
OMIM:149400	GPHN	10243	HP:0000023	Inguinal hernia
OMIM:149400	GPHN	10243	HP:0002267	Exaggerated startle response
OMIM:149400	GLRA1	2741	HP:0000006	Autosomal dominant inheritance
OMIM:149400	GLRA1	2741	HP:0002104	Apnea
OMIM:149400	GLRA1	2741	HP:0002359	Frequent falls
OMIM:149400	GLRA1	2741	HP:0000007	Autosomal recessive inheritance
OMIM:149400	GLRA1	2741	HP:0001537	Umbilical hernia
OMIM:149400	GLRA1	2741	HP:0001250	Seizures
OMIM:149400	GLRA1	2741	HP:0001276	Hypertonia
OMIM:149400	GLRA1	2741	HP:0003593	Infantile onset
OMIM:149400	GLRA1	2741	HP:0002827	Hip dislocation
OMIM:149400	GLRA1	2741	HP:0001336	Myoclonus
OMIM:149400	GLRA1	2741	HP:0000023	Inguinal hernia
OMIM:149400	GLRA1	2741	HP:0002267	Exaggerated startle response
OMIM:149400	GLRB	2743	HP:0000006	Autosomal dominant inheritance
OMIM:149400	GLRB	2743	HP:0002104	Apnea
OMIM:149400	GLRB	2743	HP:0002359	Frequent falls
OMIM:149400	GLRB	2743	HP:0000007	Autosomal recessive inheritance
OMIM:149400	GLRB	2743	HP:0001537	Umbilical hernia
OMIM:149400	GLRB	2743	HP:0001250	Seizures
OMIM:149400	GLRB	2743	HP:0001276	Hypertonia
OMIM:149400	GLRB	2743	HP:0003593	Infantile onset
OMIM:149400	GLRB	2743	HP:0002827	Hip dislocation
OMIM:149400	GLRB	2743	HP:0001336	Myoclonus
OMIM:149400	GLRB	2743	HP:0000023	Inguinal hernia
OMIM:149400	GLRB	2743	HP:0002267	Exaggerated startle response
ORPHANET:233	CHN1	1123	HP:0000567	Chorioretinal coloboma
ORPHANET:233	CHN1	1123	HP:0100542	Abnormal localization of kidney
ORPHANET:233	CHN1	1123	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:233	CHN1	1123	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:233	CHN1	1123	HP:0100543	Cognitive impairment
ORPHANET:233	CHN1	1123	HP:0008572	External ear malformation
ORPHANET:233	CHN1	1123	HP:0000175	Cleft palate
ORPHANET:233	CHN1	1123	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:233	CHN1	1123	HP:0001100	Heterochromia iridis
ORPHANET:233	CHN1	1123	HP:0001250	Seizures
ORPHANET:233	CHN1	1123	HP:0000581	Blepharophimosis
ORPHANET:233	CHN1	1123	HP:0000597	Ophthalmoparesis
ORPHANET:233	CHN1	1123	HP:0000490	Deeply set eye
ORPHANET:233	CHN1	1123	HP:0000431	Wide nasal bridge
ORPHANET:233	CHN1	1123	HP:0000505	Visual impairment
ORPHANET:233	CHN1	1123	HP:0000470	Short neck
ORPHANET:233	CHN1	1123	HP:0000615	Abnormality of the pupil
ORPHANET:233	CHN1	1123	HP:0000463	Anteverted nares
ORPHANET:233	CHN1	1123	HP:0000639	Nystagmus
ORPHANET:233	CHN1	1123	HP:0000365	Hearing impairment
ORPHANET:233	CHN1	1123	HP:0000347	Micrognathia
ORPHANET:233	CHN1	1123	HP:0000648	Optic atrophy
ORPHANET:233	CHN1	1123	HP:0000486	Strabismus
ORPHANET:233	CHN1	1123	HP:0000252	Microcephaly
ORPHANET:233	CHN1	1123	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHANET:233	CHN1	1123	HP:0001156	Brachydactyly syndrome
ORPHANET:233	CHN1	1123	HP:0001883	Talipes
ORPHANET:233	CHN1	1123	HP:0000508	Ptosis
OMIM:205950	SLC25A38	54977	HP:0003593	Infantile onset
OMIM:205950	SLC25A38	54977	HP:0000007	Autosomal recessive inheritance
OMIM:205950	SLC25A38	54977	HP:0001425	Heterogeneous
OMIM:205950	SLC25A38	54977	HP:0001903	Anemia
OMIM:205950	GLRX5	51218	HP:0003593	Infantile onset
OMIM:205950	GLRX5	51218	HP:0000007	Autosomal recessive inheritance
OMIM:205950	GLRX5	51218	HP:0001425	Heterogeneous
OMIM:205950	GLRX5	51218	HP:0001903	Anemia
OMIM:218040	HRAS	3265	HP:0000256	Macrocephaly
OMIM:218040	HRAS	3265	HP:0008872	Feeding difficulties in infancy
OMIM:218040	HRAS	3265	HP:0100729	Large face
OMIM:218040	HRAS	3265	HP:0000307	Pointed chin
OMIM:218040	HRAS	3265	HP:0000508	Ptosis
OMIM:218040	HRAS	3265	HP:0001641	Abnormality of the pulmonary valve
OMIM:218040	HRAS	3265	HP:0000286	Epicanthus
OMIM:218040	HRAS	3265	HP:0002780	Bronchomalacia
OMIM:218040	HRAS	3265	HP:0005280	Depressed nasal bridge
OMIM:218040	HRAS	3265	HP:0002059	Cerebral atrophy
OMIM:218040	HRAS	3265	HP:0000293	Full cheeks
OMIM:218040	HRAS	3265	HP:0000953	Hyperpigmentation of the skin
OMIM:218040	HRAS	3265	HP:0001508	Failure to thrive
OMIM:218040	HRAS	3265	HP:0000962	Hyperkeratosis
OMIM:218040	HRAS	3265	HP:0002021	Pyloric stenosis
OMIM:218040	HRAS	3265	HP:0007477	Abnormal dermatoglyphics
OMIM:218040	HRAS	3265	HP:0001631	Atria septal defect
OMIM:218040	HRAS	3265	HP:0200043	Verrucae
OMIM:218040	HRAS	3265	HP:0000028	Cryptorchidism
OMIM:218040	HRAS	3265	HP:0000486	Strabismus
OMIM:218040	HRAS	3265	HP:0002750	Delayed skeletal maturation
OMIM:218040	HRAS	3265	HP:0000369	Low-set ears
OMIM:218040	HRAS	3265	HP:0000368	Low-set, posteriorly rotated ears
OMIM:218040	HRAS	3265	HP:0000768	Pectus carinatum
OMIM:218040	HRAS	3265	HP:0001633	Abnormality of the mitral valve
OMIM:218040	HRAS	3265	HP:0000358	Posteriorly rotated ears
OMIM:218040	HRAS	3265	HP:0001943	Hypoglycemia
OMIM:218040	HRAS	3265	HP:0000474	Thickened nuchal skin fold
OMIM:218040	HRAS	3265	HP:0001561	Polyhydramnios
OMIM:218040	HRAS	3265	HP:0007099	Arnold-Chiari type I malformation
OMIM:218040	HRAS	3265	HP:0011675	Arrhythmia
OMIM:218040	HRAS	3265	HP:0001382	Joint hypermobility
OMIM:218040	HRAS	3265	HP:0001622	Premature birth
OMIM:218040	HRAS	3265	HP:0000083	Renal insufficiency
OMIM:218040	HRAS	3265	HP:0100689	Decreased corneal thickness
OMIM:218040	HRAS	3265	HP:0001263	Global developmental delay
OMIM:218040	HRAS	3265	HP:0002859	Rhabdomyosarcoma
OMIM:218040	HRAS	3265	HP:0001642	Pulmonic stenosis
OMIM:218040	HRAS	3265	HP:0002033	Poor suck
OMIM:218040	HRAS	3265	HP:0001800	Hypoplastic toenails
OMIM:218040	HRAS	3265	HP:0000179	Thick lower lip vermilion
OMIM:218040	HRAS	3265	HP:0002120	Cerebral cortical atrophy
OMIM:218040	HRAS	3265	HP:0000174	Abnormality of the palate
OMIM:218040	HRAS	3265	HP:0009465	Ulnar deviation of finger
OMIM:218040	HRAS	3265	HP:0000157	Abnormality of the tongue
OMIM:218040	HRAS	3265	HP:0000463	Anteverted nares
OMIM:218040	HRAS	3265	HP:0002996	Limited elbow movement
OMIM:218040	HRAS	3265	HP:0000470	Short neck
OMIM:218040	HRAS	3265	HP:0001816	Thin nail
OMIM:218040	HRAS	3265	HP:0001762	Talipes equinovarus
OMIM:218040	HRAS	3265	HP:0001609	Hoarse voice
OMIM:218040	HRAS	3265	HP:0001231	Abnormality of the fingernails
OMIM:218040	HRAS	3265	HP:0000218	High palate
OMIM:218040	HRAS	3265	HP:0000316	Hypertelorism
OMIM:218040	HRAS	3265	HP:0008070	Sparse hair
OMIM:218040	HRAS	3265	HP:0000158	Macroglossia
OMIM:218040	HRAS	3265	HP:0001634	Mitral valve prolapse
OMIM:218040	HRAS	3265	HP:0000238	Hydrocephalus
OMIM:218040	HRAS	3265	HP:0000682	Abnormality of dental enamel
OMIM:218040	HRAS	3265	HP:0003764	Nevus
OMIM:218040	HRAS	3265	HP:0002212	Curly hair
OMIM:218040	HRAS	3265	HP:0001639	Hypertrophic cardiomyopathy
OMIM:218040	HRAS	3265	HP:0002779	Tracheomalacia
OMIM:218040	HRAS	3265	HP:0000280	Coarse facial features
OMIM:218040	HRAS	3265	HP:0100261	Abnormal tendon morphology
OMIM:218040	HRAS	3265	HP:0000465	Webbed neck
OMIM:218040	HRAS	3265	HP:0001629	Ventricular septal defect
OMIM:218040	HRAS	3265	HP:0001771	Achilles tendon contracture
OMIM:218040	HRAS	3265	HP:0003745	Sporadic
OMIM:218040	HRAS	3265	HP:0000956	Acanthosis nigricans
OMIM:218040	HRAS	3265	HP:0009748	Large earlobe
OMIM:218040	HRAS	3265	HP:0004322	Short stature
OMIM:218040	HRAS	3265	HP:0000347	Micrognathia
OMIM:218040	HRAS	3265	HP:0002224	Woolly hair
OMIM:218040	HRAS	3265	HP:0000006	Autosomal dominant inheritance
OMIM:218040	HRAS	3265	HP:0001249	Intellectual disability
OMIM:218040	HRAS	3265	HP:0001699	Sudden death
OMIM:218040	HRAS	3265	HP:0000973	Cutis laxa
OMIM:218040	HRAS	3265	HP:0001552	Barrel-shaped chest
OMIM:218040	HRAS	3265	HP:0100679	Lack of skin elasticity
OMIM:218040	HRAS	3265	HP:0007440	Generalized hyperpigmentation
OMIM:218040	HRAS	3265	HP:0000494	Downslanted palpebral fissures
OMIM:218040	HRAS	3265	HP:0001548	Overgrowth
OMIM:218040	HRAS	3265	HP:0002119	Ventriculomegaly
OMIM:218040	HRAS	3265	HP:0002878	Respiratory failure
OMIM:218040	HRAS	3265	HP:0100543	Cognitive impairment
OMIM:187800	TUBB1	81027	HP:0003540	Impaired platelet aggregation
OMIM:187800	TUBB1	81027	HP:0001903	Anemia
OMIM:187800	TUBB1	81027	HP:0000006	Autosomal dominant inheritance
OMIM:187800	TUBB1	81027	HP:0000967	Petechiae
OMIM:187800	ACTN1	87	HP:0003540	Impaired platelet aggregation
OMIM:187800	ACTN1	87	HP:0001903	Anemia
OMIM:187800	ACTN1	87	HP:0000006	Autosomal dominant inheritance
OMIM:187800	ACTN1	87	HP:0000967	Petechiae
OMIM:187800	ITGA2B	3674	HP:0003540	Impaired platelet aggregation
OMIM:187800	ITGA2B	3674	HP:0001903	Anemia
OMIM:187800	ITGA2B	3674	HP:0000006	Autosomal dominant inheritance
OMIM:187800	ITGA2B	3674	HP:0000967	Petechiae
OMIM:187800	ITGB3	3690	HP:0003540	Impaired platelet aggregation
OMIM:187800	ITGB3	3690	HP:0001903	Anemia
OMIM:187800	ITGB3	3690	HP:0000006	Autosomal dominant inheritance
OMIM:187800	ITGB3	3690	HP:0000967	Petechiae
OMIM:154230	DMRT1	1761	HP:0012245	Sex reversal
OMIM:154230	DMRT1	1761	HP:0000006	Autosomal dominant inheritance
OMIM:154230	DMRT1	1761	HP:0000133	Gonadal dysgenesis
OMIM:154230	WT1	7490	HP:0012245	Sex reversal
OMIM:154230	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:154230	WT1	7490	HP:0000133	Gonadal dysgenesis
OMIM:154230	GATA4	2626	HP:0012245	Sex reversal
OMIM:154230	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:154230	GATA4	2626	HP:0000133	Gonadal dysgenesis
OMIM:154230	SOX9	6662	HP:0012245	Sex reversal
OMIM:154230	SOX9	6662	HP:0000006	Autosomal dominant inheritance
OMIM:154230	SOX9	6662	HP:0000133	Gonadal dysgenesis
OMIM:154230	SRY	6736	HP:0012245	Sex reversal
OMIM:154230	SRY	6736	HP:0000006	Autosomal dominant inheritance
OMIM:154230	SRY	6736	HP:0000133	Gonadal dysgenesis
OMIM:154230	NR5A1	2516	HP:0012245	Sex reversal
OMIM:154230	NR5A1	2516	HP:0000006	Autosomal dominant inheritance
OMIM:154230	NR5A1	2516	HP:0000133	Gonadal dysgenesis
OMIM:154230	MAP3K1	4214	HP:0012245	Sex reversal
OMIM:154230	MAP3K1	4214	HP:0000006	Autosomal dominant inheritance
OMIM:154230	MAP3K1	4214	HP:0000133	Gonadal dysgenesis
OMIM:154230	ZFPM2	23414	HP:0012245	Sex reversal
OMIM:154230	ZFPM2	23414	HP:0000006	Autosomal dominant inheritance
OMIM:154230	ZFPM2	23414	HP:0000133	Gonadal dysgenesis
OMIM:154230	CBX2	84733	HP:0012245	Sex reversal
OMIM:154230	CBX2	84733	HP:0000006	Autosomal dominant inheritance
OMIM:154230	CBX2	84733	HP:0000133	Gonadal dysgenesis
OMIM:154230	WWOX	51741	HP:0012245	Sex reversal
OMIM:154230	WWOX	51741	HP:0000006	Autosomal dominant inheritance
OMIM:154230	WWOX	51741	HP:0000133	Gonadal dysgenesis
OMIM:154230	VAMP7	6845	HP:0012245	Sex reversal
OMIM:154230	VAMP7	6845	HP:0000006	Autosomal dominant inheritance
OMIM:154230	VAMP7	6845	HP:0000133	Gonadal dysgenesis
OMIM:154230	DHH	50846	HP:0012245	Sex reversal
OMIM:154230	DHH	50846	HP:0000006	Autosomal dominant inheritance
OMIM:154230	DHH	50846	HP:0000133	Gonadal dysgenesis
OMIM:154230	NR0B1	190	HP:0012245	Sex reversal
OMIM:154230	NR0B1	190	HP:0000006	Autosomal dominant inheritance
OMIM:154230	NR0B1	190	HP:0000133	Gonadal dysgenesis
OMIM:245349	PDHX	8050	HP:0002510	Spastic tetraplegia
OMIM:245349	PDHX	8050	HP:0001263	Global developmental delay
OMIM:245349	PDHX	8050	HP:0000007	Autosomal recessive inheritance
OMIM:245349	PDHX	8050	HP:0001250	Seizures
OMIM:245349	PDHX	8050	HP:0001332	Dystonia
OMIM:245349	PDHX	8050	HP:0002317	Unsteady gait
OMIM:245349	PDHX	8050	HP:0003577	Congenital onset
OMIM:245349	PDHX	8050	HP:0000496	Abnormality of eye movement
OMIM:245349	PDHX	8050	HP:0000218	High palate
OMIM:245349	PDHX	8050	HP:0000252	Microcephaly
OMIM:245349	PDHX	8050	HP:0001942	Metabolic acidosis
OMIM:245349	PDHX	8050	HP:0001258	Spastic paraplegia
OMIM:245349	PDHX	8050	HP:0001249	Intellectual disability
OMIM:245349	PDHX	8050	HP:0001251	Ataxia
OMIM:245349	PDHX	8050	HP:0001319	Neonatal hypotonia
OMIM:245349	PDHX	8050	HP:0000316	Hypertelorism
OMIM:245349	PDHX	8050	HP:0000286	Epicanthus
OMIM:245349	PDHX	8050	HP:0000243	Trigonocephaly
OMIM:245349	PDHX	8050	HP:0000767	Pectus excavatum
OMIM:245349	PDHX	8050	HP:0000648	Optic atrophy
OMIM:245349	PDHX	8050	HP:0001338	Partial agenesis of the corpus callosum
OMIM:245349	PDHX	8050	HP:0003128	Lactic acidosis
OMIM:245349	PDHX	8050	HP:0003542	Increased serum pyruvate
OMIM:245349	PDHX	8050	HP:0003828	Variable expressivity
OMIM:181430	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:181430	MYH7	4625	HP:0003677	Slow progression
OMIM:181430	MYH7	4625	HP:0003458	EMG: myopathic abnormalities
OMIM:181430	MYH7	4625	HP:0030319	Weakness of facial musculature
OMIM:203740	OGDH	4967	HP:0000238	Hydrocephalus
OMIM:203740	OGDH	4967	HP:0100022	Abnormality of movement
OMIM:203740	OGDH	4967	HP:0003202	Skeletal muscle atrophy
OMIM:203740	OGDH	4967	HP:0002311	Incoordination
OMIM:203740	OGDH	4967	HP:0100543	Cognitive impairment
OMIM:203740	OGDH	4967	HP:0001252	Muscular hypotonia
OMIM:203740	OGDH	4967	HP:0001276	Hypertonia
OMIM:203740	OGDH	4967	HP:0000007	Autosomal recessive inheritance
OMIM:203740	OGDH	4967	HP:0003819	Death in childhood
OMIM:203740	OGDH	4967	HP:0001942	Metabolic acidosis
OMIM:203740	OGDH	4967	HP:0002151	Increased serum lactate
OMIM:203740	OGDH	4967	HP:0004322	Short stature
OMIM:208540	NEK8	284086	HP:0001396	Cholestasis
OMIM:208540	NEK8	284086	HP:0002240	Hepatomegaly
OMIM:208540	NEK8	284086	HP:0000110	Renal dysplasia
OMIM:208540	NEK8	284086	HP:0002089	Pulmonary hypoplasia
OMIM:208540	NEK8	284086	HP:0002566	Intestinal malrotation
OMIM:208540	NEK8	284086	HP:0001394	Cirrhosis
OMIM:208540	NEK8	284086	HP:0001408	Bile duct proliferation
OMIM:208540	NEK8	284086	HP:0001643	Patent ductus arteriosus
OMIM:208540	NEK8	284086	HP:0000113	Polycystic kidney dysplasia
OMIM:208540	NEK8	284086	HP:0002613	Biliary cirrhosis
OMIM:208540	NEK8	284086	HP:0000007	Autosomal recessive inheritance
OMIM:208540	NEK8	284086	HP:0001305	Dandy-Walker malformation
OMIM:208540	NEK8	284086	HP:0001407	Hepatic cysts
OMIM:208540	NEK8	284086	HP:0001748	Polysplenia
OMIM:208540	NEK8	284086	HP:0001562	Oligohydramnios
OMIM:208540	NEK8	284086	HP:0001650	Aortic valve stenosis
OMIM:208540	NEK8	284086	HP:0000083	Renal insufficiency
OMIM:208540	NEK8	284086	HP:0002009	Potter facies
OMIM:208540	NEK8	284086	HP:0001631	Atria septal defect
OMIM:208540	NEK8	284086	HP:0001395	Hepatic fibrosis
OMIM:208540	NPHP3	27031	HP:0001396	Cholestasis
OMIM:208540	NPHP3	27031	HP:0002240	Hepatomegaly
OMIM:208540	NPHP3	27031	HP:0000110	Renal dysplasia
OMIM:208540	NPHP3	27031	HP:0002089	Pulmonary hypoplasia
OMIM:208540	NPHP3	27031	HP:0002566	Intestinal malrotation
OMIM:208540	NPHP3	27031	HP:0001394	Cirrhosis
OMIM:208540	NPHP3	27031	HP:0001408	Bile duct proliferation
OMIM:208540	NPHP3	27031	HP:0001643	Patent ductus arteriosus
OMIM:208540	NPHP3	27031	HP:0000113	Polycystic kidney dysplasia
OMIM:208540	NPHP3	27031	HP:0002613	Biliary cirrhosis
OMIM:208540	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:208540	NPHP3	27031	HP:0001305	Dandy-Walker malformation
OMIM:208540	NPHP3	27031	HP:0001407	Hepatic cysts
OMIM:208540	NPHP3	27031	HP:0001748	Polysplenia
OMIM:208540	NPHP3	27031	HP:0001562	Oligohydramnios
OMIM:208540	NPHP3	27031	HP:0001650	Aortic valve stenosis
OMIM:208540	NPHP3	27031	HP:0000083	Renal insufficiency
OMIM:208540	NPHP3	27031	HP:0002009	Potter facies
OMIM:208540	NPHP3	27031	HP:0001631	Atria septal defect
OMIM:208540	NPHP3	27031	HP:0001395	Hepatic fibrosis
OMIM:600138	RLBP1	6017	HP:0003829	Incomplete penetrance
OMIM:600138	RLBP1	6017	HP:0040049	Macular edema
OMIM:600138	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:600138	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:600138	RLBP1	6017	HP:0007401	Macular atrophy
OMIM:600138	SPATA7	55812	HP:0003829	Incomplete penetrance
OMIM:600138	SPATA7	55812	HP:0040049	Macular edema
OMIM:600138	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:600138	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:600138	SPATA7	55812	HP:0007401	Macular atrophy
OMIM:600138	ARL6	84100	HP:0003829	Incomplete penetrance
OMIM:600138	ARL6	84100	HP:0040049	Macular edema
OMIM:600138	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:600138	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:600138	ARL6	84100	HP:0007401	Macular atrophy
OMIM:600138	CERKL	375298	HP:0003829	Incomplete penetrance
OMIM:600138	CERKL	375298	HP:0040049	Macular edema
OMIM:600138	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:600138	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:600138	CERKL	375298	HP:0007401	Macular atrophy
OMIM:600138	PRPF31	26121	HP:0003829	Incomplete penetrance
OMIM:600138	PRPF31	26121	HP:0040049	Macular edema
OMIM:600138	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:600138	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PRPF31	26121	HP:0007401	Macular atrophy
OMIM:600138	TTC8	123016	HP:0003829	Incomplete penetrance
OMIM:600138	TTC8	123016	HP:0040049	Macular edema
OMIM:600138	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:600138	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:600138	TTC8	123016	HP:0007401	Macular atrophy
OMIM:600138	PROM1	8842	HP:0003829	Incomplete penetrance
OMIM:600138	PROM1	8842	HP:0040049	Macular edema
OMIM:600138	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:600138	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PROM1	8842	HP:0007401	Macular atrophy
OMIM:600138	LRAT	9227	HP:0003829	Incomplete penetrance
OMIM:600138	LRAT	9227	HP:0040049	Macular edema
OMIM:600138	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:600138	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:600138	LRAT	9227	HP:0007401	Macular atrophy
OMIM:600138	IFT140	9742	HP:0003829	Incomplete penetrance
OMIM:600138	IFT140	9742	HP:0040049	Macular edema
OMIM:600138	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:600138	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:600138	IFT140	9742	HP:0007401	Macular atrophy
OMIM:600138	BEST1	7439	HP:0003829	Incomplete penetrance
OMIM:600138	BEST1	7439	HP:0040049	Macular edema
OMIM:600138	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:600138	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:600138	BEST1	7439	HP:0007401	Macular atrophy
OMIM:600138	NEK2	4751	HP:0003829	Incomplete penetrance
OMIM:600138	NEK2	4751	HP:0040049	Macular edema
OMIM:600138	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:600138	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:600138	NEK2	4751	HP:0007401	Macular atrophy
OMIM:600138	ARL2BP	23568	HP:0003829	Incomplete penetrance
OMIM:600138	ARL2BP	23568	HP:0040049	Macular edema
OMIM:600138	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:600138	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:600138	ARL2BP	23568	HP:0007401	Macular atrophy
OMIM:600138	NR2E3	10002	HP:0003829	Incomplete penetrance
OMIM:600138	NR2E3	10002	HP:0040049	Macular edema
OMIM:600138	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:600138	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:600138	NR2E3	10002	HP:0007401	Macular atrophy
OMIM:600138	EYS	346007	HP:0003829	Incomplete penetrance
OMIM:600138	EYS	346007	HP:0040049	Macular edema
OMIM:600138	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:600138	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:600138	EYS	346007	HP:0007401	Macular atrophy
OMIM:600138	MAK	4117	HP:0003829	Incomplete penetrance
OMIM:600138	MAK	4117	HP:0040049	Macular edema
OMIM:600138	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:600138	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:600138	MAK	4117	HP:0007401	Macular atrophy
OMIM:600138	SAG	6295	HP:0003829	Incomplete penetrance
OMIM:600138	SAG	6295	HP:0040049	Macular edema
OMIM:600138	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:600138	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:600138	SAG	6295	HP:0007401	Macular atrophy
OMIM:600138	ABCA4	24	HP:0003829	Incomplete penetrance
OMIM:600138	ABCA4	24	HP:0040049	Macular edema
OMIM:600138	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:600138	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:600138	ABCA4	24	HP:0007401	Macular atrophy
OMIM:600138	PDE6A	5145	HP:0003829	Incomplete penetrance
OMIM:600138	PDE6A	5145	HP:0040049	Macular edema
OMIM:600138	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:600138	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PDE6A	5145	HP:0007401	Macular atrophy
OMIM:600138	PDE6G	5148	HP:0003829	Incomplete penetrance
OMIM:600138	PDE6G	5148	HP:0040049	Macular edema
OMIM:600138	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:600138	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PDE6G	5148	HP:0007401	Macular atrophy
OMIM:600138	IMPDH1	3614	HP:0003829	Incomplete penetrance
OMIM:600138	IMPDH1	3614	HP:0040049	Macular edema
OMIM:600138	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:600138	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:600138	IMPDH1	3614	HP:0007401	Macular atrophy
OMIM:600138	OFD1	8481	HP:0003829	Incomplete penetrance
OMIM:600138	OFD1	8481	HP:0040049	Macular edema
OMIM:600138	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:600138	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:600138	OFD1	8481	HP:0007401	Macular atrophy
OMIM:600138	GUCA1B	2979	HP:0003829	Incomplete penetrance
OMIM:600138	GUCA1B	2979	HP:0040049	Macular edema
OMIM:600138	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:600138	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:600138	GUCA1B	2979	HP:0007401	Macular atrophy
OMIM:600138	NRL	4901	HP:0003829	Incomplete penetrance
OMIM:600138	NRL	4901	HP:0040049	Macular edema
OMIM:600138	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:600138	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:600138	NRL	4901	HP:0007401	Macular atrophy
OMIM:600138	PDE6B	5158	HP:0003829	Incomplete penetrance
OMIM:600138	PDE6B	5158	HP:0040049	Macular edema
OMIM:600138	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:600138	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PDE6B	5158	HP:0007401	Macular atrophy
OMIM:600138	KLHL7	55975	HP:0003829	Incomplete penetrance
OMIM:600138	KLHL7	55975	HP:0040049	Macular edema
OMIM:600138	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:600138	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:600138	KLHL7	55975	HP:0007401	Macular atrophy
OMIM:600138	PRPF4	9128	HP:0003829	Incomplete penetrance
OMIM:600138	PRPF4	9128	HP:0040049	Macular edema
OMIM:600138	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:600138	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PRPF4	9128	HP:0007401	Macular atrophy
OMIM:600138	PRPF3	9129	HP:0003829	Incomplete penetrance
OMIM:600138	PRPF3	9129	HP:0040049	Macular edema
OMIM:600138	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:600138	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PRPF3	9129	HP:0007401	Macular atrophy
OMIM:600138	FAM161A	84140	HP:0003829	Incomplete penetrance
OMIM:600138	FAM161A	84140	HP:0040049	Macular edema
OMIM:600138	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:600138	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:600138	FAM161A	84140	HP:0007401	Macular atrophy
OMIM:600138	IFT172	26160	HP:0003829	Incomplete penetrance
OMIM:600138	IFT172	26160	HP:0040049	Macular edema
OMIM:600138	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:600138	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:600138	IFT172	26160	HP:0007401	Macular atrophy
OMIM:600138	KIZ	55857	HP:0003829	Incomplete penetrance
OMIM:600138	KIZ	55857	HP:0040049	Macular edema
OMIM:600138	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:600138	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:600138	KIZ	55857	HP:0007401	Macular atrophy
OMIM:600138	CDHR1	92211	HP:0003829	Incomplete penetrance
OMIM:600138	CDHR1	92211	HP:0040049	Macular edema
OMIM:600138	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:600138	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:600138	CDHR1	92211	HP:0007401	Macular atrophy
OMIM:600138	ZNF408	79797	HP:0003829	Incomplete penetrance
OMIM:600138	ZNF408	79797	HP:0040049	Macular edema
OMIM:600138	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:600138	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:600138	ZNF408	79797	HP:0007401	Macular atrophy
OMIM:600138	RBP3	5949	HP:0003829	Incomplete penetrance
OMIM:600138	RBP3	5949	HP:0040049	Macular edema
OMIM:600138	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:600138	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:600138	RBP3	5949	HP:0007401	Macular atrophy
OMIM:600138	HGSNAT	138050	HP:0003829	Incomplete penetrance
OMIM:600138	HGSNAT	138050	HP:0040049	Macular edema
OMIM:600138	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:600138	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:600138	HGSNAT	138050	HP:0007401	Macular atrophy
OMIM:600138	FSCN2	25794	HP:0003829	Incomplete penetrance
OMIM:600138	FSCN2	25794	HP:0040049	Macular edema
OMIM:600138	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:600138	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:600138	FSCN2	25794	HP:0007401	Macular atrophy
OMIM:600138	PRCD	768206	HP:0003829	Incomplete penetrance
OMIM:600138	PRCD	768206	HP:0040049	Macular edema
OMIM:600138	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:600138	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PRCD	768206	HP:0007401	Macular atrophy
OMIM:600138	BBS2	583	HP:0003829	Incomplete penetrance
OMIM:600138	BBS2	583	HP:0040049	Macular edema
OMIM:600138	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:600138	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:600138	BBS2	583	HP:0007401	Macular atrophy
OMIM:600138	RDH12	145226	HP:0003829	Incomplete penetrance
OMIM:600138	RDH12	145226	HP:0040049	Macular edema
OMIM:600138	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:600138	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:600138	RDH12	145226	HP:0007401	Macular atrophy
OMIM:600138	PRPH2	5961	HP:0003829	Incomplete penetrance
OMIM:600138	PRPH2	5961	HP:0040049	Macular edema
OMIM:600138	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:600138	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PRPH2	5961	HP:0007401	Macular atrophy
OMIM:600138	DHDDS	79947	HP:0003829	Incomplete penetrance
OMIM:600138	DHDDS	79947	HP:0040049	Macular edema
OMIM:600138	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:600138	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:600138	DHDDS	79947	HP:0007401	Macular atrophy
OMIM:600138	ROM1	6094	HP:0003829	Incomplete penetrance
OMIM:600138	ROM1	6094	HP:0040049	Macular edema
OMIM:600138	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:600138	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:600138	ROM1	6094	HP:0007401	Macular atrophy
OMIM:600138	C2ORF71	388939	HP:0003829	Incomplete penetrance
OMIM:600138	C2ORF71	388939	HP:0040049	Macular edema
OMIM:600138	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:600138	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:600138	C2ORF71	388939	HP:0007401	Macular atrophy
OMIM:600138	RP9	6100	HP:0003829	Incomplete penetrance
OMIM:600138	RP9	6100	HP:0040049	Macular edema
OMIM:600138	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:600138	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:600138	RP9	6100	HP:0007401	Macular atrophy
OMIM:600138	PRPF6	24148	HP:0003829	Incomplete penetrance
OMIM:600138	PRPF6	24148	HP:0040049	Macular edema
OMIM:600138	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:600138	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PRPF6	24148	HP:0007401	Macular atrophy
OMIM:600138	RP1	6101	HP:0003829	Incomplete penetrance
OMIM:600138	RP1	6101	HP:0040049	Macular edema
OMIM:600138	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:600138	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:600138	RP1	6101	HP:0007401	Macular atrophy
OMIM:600138	RP2	6102	HP:0003829	Incomplete penetrance
OMIM:600138	RP2	6102	HP:0040049	Macular edema
OMIM:600138	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:600138	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:600138	RP2	6102	HP:0007401	Macular atrophy
OMIM:600138	RPGR	6103	HP:0003829	Incomplete penetrance
OMIM:600138	RPGR	6103	HP:0040049	Macular edema
OMIM:600138	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:600138	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:600138	RPGR	6103	HP:0007401	Macular atrophy
OMIM:600138	SEMA4A	64218	HP:0003829	Incomplete penetrance
OMIM:600138	SEMA4A	64218	HP:0040049	Macular edema
OMIM:600138	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:600138	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:600138	SEMA4A	64218	HP:0007401	Macular atrophy
OMIM:600138	C8ORF37	157657	HP:0003829	Incomplete penetrance
OMIM:600138	C8ORF37	157657	HP:0040049	Macular edema
OMIM:600138	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:600138	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:600138	C8ORF37	157657	HP:0007401	Macular atrophy
OMIM:600138	IDH3B	3420	HP:0003829	Incomplete penetrance
OMIM:600138	IDH3B	3420	HP:0040049	Macular edema
OMIM:600138	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:600138	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:600138	IDH3B	3420	HP:0007401	Macular atrophy
OMIM:600138	MERTK	10461	HP:0003829	Incomplete penetrance
OMIM:600138	MERTK	10461	HP:0040049	Macular edema
OMIM:600138	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:600138	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:600138	MERTK	10461	HP:0007401	Macular atrophy
OMIM:600138	PRPF8	10594	HP:0003829	Incomplete penetrance
OMIM:600138	PRPF8	10594	HP:0040049	Macular edema
OMIM:600138	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:600138	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:600138	PRPF8	10594	HP:0007401	Macular atrophy
OMIM:600138	TOPORS	10210	HP:0003829	Incomplete penetrance
OMIM:600138	TOPORS	10210	HP:0040049	Macular edema
OMIM:600138	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:600138	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:600138	TOPORS	10210	HP:0007401	Macular atrophy
OMIM:600138	USH2A	7399	HP:0003829	Incomplete penetrance
OMIM:600138	USH2A	7399	HP:0040049	Macular edema
OMIM:600138	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:600138	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:600138	USH2A	7399	HP:0007401	Macular atrophy
OMIM:600138	RPE65	6121	HP:0003829	Incomplete penetrance
OMIM:600138	RPE65	6121	HP:0040049	Macular edema
OMIM:600138	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:600138	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:600138	RPE65	6121	HP:0007401	Macular atrophy
OMIM:600138	CLRN1	7401	HP:0003829	Incomplete penetrance
OMIM:600138	CLRN1	7401	HP:0040049	Macular edema
OMIM:600138	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:600138	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:600138	CLRN1	7401	HP:0007401	Macular atrophy
OMIM:600138	CNGB1	1258	HP:0003829	Incomplete penetrance
OMIM:600138	CNGB1	1258	HP:0040049	Macular edema
OMIM:600138	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:600138	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:600138	CNGB1	1258	HP:0007401	Macular atrophy
OMIM:600138	RGR	5995	HP:0003829	Incomplete penetrance
OMIM:600138	RGR	5995	HP:0040049	Macular edema
OMIM:600138	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:600138	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:600138	RGR	5995	HP:0007401	Macular atrophy
OMIM:600138	CNGA1	1259	HP:0003829	Incomplete penetrance
OMIM:600138	CNGA1	1259	HP:0040049	Macular edema
OMIM:600138	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:600138	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:600138	CNGA1	1259	HP:0007401	Macular atrophy
OMIM:600138	TUB	7275	HP:0003829	Incomplete penetrance
OMIM:600138	TUB	7275	HP:0040049	Macular edema
OMIM:600138	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:600138	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:600138	TUB	7275	HP:0007401	Macular atrophy
OMIM:600138	SNRNP200	23020	HP:0003829	Incomplete penetrance
OMIM:600138	SNRNP200	23020	HP:0040049	Macular edema
OMIM:600138	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:600138	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:600138	SNRNP200	23020	HP:0007401	Macular atrophy
OMIM:600138	SLC7A14	57709	HP:0003829	Incomplete penetrance
OMIM:600138	SLC7A14	57709	HP:0040049	Macular edema
OMIM:600138	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:600138	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:600138	SLC7A14	57709	HP:0007401	Macular atrophy
OMIM:600138	TULP1	7287	HP:0003829	Incomplete penetrance
OMIM:600138	TULP1	7287	HP:0040049	Macular edema
OMIM:600138	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:600138	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:600138	TULP1	7287	HP:0007401	Macular atrophy
OMIM:600138	RHO	6010	HP:0003829	Incomplete penetrance
OMIM:600138	RHO	6010	HP:0040049	Macular edema
OMIM:600138	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:600138	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:600138	RHO	6010	HP:0007401	Macular atrophy
OMIM:600138	CA4	762	HP:0003829	Incomplete penetrance
OMIM:600138	CA4	762	HP:0040049	Macular edema
OMIM:600138	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:600138	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:600138	CA4	762	HP:0007401	Macular atrophy
OMIM:600138	CRB1	23418	HP:0003829	Incomplete penetrance
OMIM:600138	CRB1	23418	HP:0040049	Macular edema
OMIM:600138	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:600138	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:600138	CRB1	23418	HP:0007401	Macular atrophy
OMIM:600138	IMPG2	50939	HP:0003829	Incomplete penetrance
OMIM:600138	IMPG2	50939	HP:0040049	Macular edema
OMIM:600138	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:600138	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:600138	IMPG2	50939	HP:0007401	Macular atrophy
OMIM:600138	ZNF513	130557	HP:0003829	Incomplete penetrance
OMIM:600138	ZNF513	130557	HP:0040049	Macular edema
OMIM:600138	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:600138	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:600138	ZNF513	130557	HP:0007401	Macular atrophy
OMIM:600138	CRX	1406	HP:0003829	Incomplete penetrance
OMIM:600138	CRX	1406	HP:0040049	Macular edema
OMIM:600138	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:600138	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:600138	CRX	1406	HP:0007401	Macular atrophy
ORPHANET:220402	CTGF	1490	HP:0000958	Dry skin
ORPHANET:220402	CTGF	1490	HP:0001053	Hypopigmented skin patches
ORPHANET:220402	CTGF	1490	HP:0002017	Nausea and vomiting
ORPHANET:220402	CTGF	1490	HP:0200042	Skin ulcer
ORPHANET:220402	CTGF	1490	HP:0002960	Autoimmunity
ORPHANET:220402	CTGF	1490	HP:0001063	Acrocyanosis
ORPHANET:220402	CTGF	1490	HP:0000934	Chondrocalcinosis
ORPHANET:220402	CTGF	1490	HP:0100585	Telangiectasia of the skin
ORPHANET:220402	CTGF	1490	HP:0002206	Pulmonary fibrosis
ORPHANET:220402	CTGF	1490	HP:0008872	Feeding difficulties in infancy
ORPHANET:220402	HLA-DRB1	3123	HP:0000958	Dry skin
ORPHANET:220402	HLA-DRB1	3123	HP:0001053	Hypopigmented skin patches
ORPHANET:220402	HLA-DRB1	3123	HP:0002017	Nausea and vomiting
ORPHANET:220402	HLA-DRB1	3123	HP:0200042	Skin ulcer
ORPHANET:220402	HLA-DRB1	3123	HP:0002960	Autoimmunity
ORPHANET:220402	HLA-DRB1	3123	HP:0001063	Acrocyanosis
ORPHANET:220402	HLA-DRB1	3123	HP:0000934	Chondrocalcinosis
ORPHANET:220402	HLA-DRB1	3123	HP:0100585	Telangiectasia of the skin
ORPHANET:220402	HLA-DRB1	3123	HP:0002206	Pulmonary fibrosis
ORPHANET:220402	HLA-DRB1	3123	HP:0008872	Feeding difficulties in infancy
ORPHANET:220402	CCR6	1235	HP:0000958	Dry skin
ORPHANET:220402	CCR6	1235	HP:0001053	Hypopigmented skin patches
ORPHANET:220402	CCR6	1235	HP:0002017	Nausea and vomiting
ORPHANET:220402	CCR6	1235	HP:0200042	Skin ulcer
ORPHANET:220402	CCR6	1235	HP:0002960	Autoimmunity
ORPHANET:220402	CCR6	1235	HP:0001063	Acrocyanosis
ORPHANET:220402	CCR6	1235	HP:0000934	Chondrocalcinosis
ORPHANET:220402	CCR6	1235	HP:0100585	Telangiectasia of the skin
ORPHANET:220402	CCR6	1235	HP:0002206	Pulmonary fibrosis
ORPHANET:220402	CCR6	1235	HP:0008872	Feeding difficulties in infancy
ORPHANET:220402	CAV1	857	HP:0000958	Dry skin
ORPHANET:220402	CAV1	857	HP:0001053	Hypopigmented skin patches
ORPHANET:220402	CAV1	857	HP:0002017	Nausea and vomiting
ORPHANET:220402	CAV1	857	HP:0200042	Skin ulcer
ORPHANET:220402	CAV1	857	HP:0002960	Autoimmunity
ORPHANET:220402	CAV1	857	HP:0001063	Acrocyanosis
ORPHANET:220402	CAV1	857	HP:0000934	Chondrocalcinosis
ORPHANET:220402	CAV1	857	HP:0100585	Telangiectasia of the skin
ORPHANET:220402	CAV1	857	HP:0002206	Pulmonary fibrosis
ORPHANET:220402	CAV1	857	HP:0008872	Feeding difficulties in infancy
ORPHANET:220402	KIAA0319L	79932	HP:0000958	Dry skin
ORPHANET:220402	KIAA0319L	79932	HP:0001053	Hypopigmented skin patches
ORPHANET:220402	KIAA0319L	79932	HP:0002017	Nausea and vomiting
ORPHANET:220402	KIAA0319L	79932	HP:0200042	Skin ulcer
ORPHANET:220402	KIAA0319L	79932	HP:0002960	Autoimmunity
ORPHANET:220402	KIAA0319L	79932	HP:0001063	Acrocyanosis
ORPHANET:220402	KIAA0319L	79932	HP:0000934	Chondrocalcinosis
ORPHANET:220402	KIAA0319L	79932	HP:0100585	Telangiectasia of the skin
ORPHANET:220402	KIAA0319L	79932	HP:0002206	Pulmonary fibrosis
ORPHANET:220402	KIAA0319L	79932	HP:0008872	Feeding difficulties in infancy
ORPHANET:220402	IRF5	3663	HP:0000958	Dry skin
ORPHANET:220402	IRF5	3663	HP:0001053	Hypopigmented skin patches
ORPHANET:220402	IRF5	3663	HP:0002017	Nausea and vomiting
ORPHANET:220402	IRF5	3663	HP:0200042	Skin ulcer
ORPHANET:220402	IRF5	3663	HP:0002960	Autoimmunity
ORPHANET:220402	IRF5	3663	HP:0001063	Acrocyanosis
ORPHANET:220402	IRF5	3663	HP:0000934	Chondrocalcinosis
ORPHANET:220402	IRF5	3663	HP:0100585	Telangiectasia of the skin
ORPHANET:220402	IRF5	3663	HP:0002206	Pulmonary fibrosis
ORPHANET:220402	IRF5	3663	HP:0008872	Feeding difficulties in infancy
OMIM:614211	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:614211	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:614211	DIAPH1	1729	HP:0000360	Tinnitus
OMIM:614211	DIAPH1	1729	HP:0003676	Progressive
OMIM:614211	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:614211	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:614211	CEACAM16	388551	HP:0000360	Tinnitus
OMIM:614211	CEACAM16	388551	HP:0003676	Progressive
OMIM:614211	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:614211	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:614211	SLC17A8	246213	HP:0000360	Tinnitus
OMIM:614211	SLC17A8	246213	HP:0003676	Progressive
OMIM:614211	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:614211	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:614211	TJP2	9414	HP:0000360	Tinnitus
OMIM:614211	TJP2	9414	HP:0003676	Progressive
OMIM:614211	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:614211	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:614211	ACTG1	71	HP:0000360	Tinnitus
OMIM:614211	ACTG1	71	HP:0003676	Progressive
OMIM:614211	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:614211	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:614211	CCDC50	152137	HP:0000360	Tinnitus
OMIM:614211	CCDC50	152137	HP:0003676	Progressive
OMIM:614211	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:614211	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:614211	MIR96	407053	HP:0000360	Tinnitus
OMIM:614211	MIR96	407053	HP:0003676	Progressive
OMIM:614211	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:614211	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:614211	GJB2	2706	HP:0000360	Tinnitus
OMIM:614211	GJB2	2706	HP:0003676	Progressive
OMIM:614211	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:614211	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:614211	POU4F3	5459	HP:0000360	Tinnitus
OMIM:614211	POU4F3	5459	HP:0003676	Progressive
OMIM:614211	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:614211	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:614211	GJB3	2707	HP:0000360	Tinnitus
OMIM:614211	GJB3	2707	HP:0003676	Progressive
OMIM:614211	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:614211	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:614211	MYH9	4627	HP:0000360	Tinnitus
OMIM:614211	MYH9	4627	HP:0003676	Progressive
OMIM:614211	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:614211	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:614211	CRYM	1428	HP:0000360	Tinnitus
OMIM:614211	CRYM	1428	HP:0003676	Progressive
OMIM:614211	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:614211	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:614211	COL11A2	1302	HP:0000360	Tinnitus
OMIM:614211	COL11A2	1302	HP:0003676	Progressive
OMIM:614211	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:614211	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:614211	EYA4	2070	HP:0000360	Tinnitus
OMIM:614211	EYA4	2070	HP:0003676	Progressive
OMIM:614211	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:614211	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:614211	DFNA5	1687	HP:0000360	Tinnitus
OMIM:614211	DFNA5	1687	HP:0003676	Progressive
OMIM:614211	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:614211	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:614211	DIAPH3	81624	HP:0000360	Tinnitus
OMIM:614211	DIAPH3	81624	HP:0003676	Progressive
OMIM:614211	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:614211	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:614211	TMC1	117531	HP:0000360	Tinnitus
OMIM:614211	TMC1	117531	HP:0003676	Progressive
OMIM:614211	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:614211	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:614211	COCH	1690	HP:0000360	Tinnitus
OMIM:614211	COCH	1690	HP:0003676	Progressive
OMIM:614211	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:614211	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:614211	OSBPL2	9885	HP:0000360	Tinnitus
OMIM:614211	OSBPL2	9885	HP:0003676	Progressive
OMIM:614211	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:614211	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:614211	SIX1	6495	HP:0000360	Tinnitus
OMIM:614211	SIX1	6495	HP:0003676	Progressive
OMIM:614211	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:614211	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:614211	TECTA	7007	HP:0000360	Tinnitus
OMIM:614211	TECTA	7007	HP:0003676	Progressive
OMIM:614211	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:614211	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:614211	MYO1A	4640	HP:0000360	Tinnitus
OMIM:614211	MYO1A	4640	HP:0003676	Progressive
OMIM:614211	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:614211	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:614211	MYO1C	4641	HP:0000360	Tinnitus
OMIM:614211	MYO1C	4641	HP:0003676	Progressive
OMIM:614211	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:614211	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:614211	MYO6	4646	HP:0000360	Tinnitus
OMIM:614211	MYO6	4646	HP:0003676	Progressive
OMIM:614211	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:614211	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:614211	MYO7A	4647	HP:0000360	Tinnitus
OMIM:614211	MYO7A	4647	HP:0003676	Progressive
OMIM:614211	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:614211	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:614211	GRHL2	79977	HP:0000360	Tinnitus
OMIM:614211	GRHL2	79977	HP:0003676	Progressive
OMIM:614211	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:614211	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:614211	DIABLO	56616	HP:0000360	Tinnitus
OMIM:614211	DIABLO	56616	HP:0003676	Progressive
OMIM:614211	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:614211	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:614211	MYH14	79784	HP:0000360	Tinnitus
OMIM:614211	MYH14	79784	HP:0003676	Progressive
OMIM:614211	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:614211	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:614211	P2RX2	22953	HP:0000360	Tinnitus
OMIM:614211	P2RX2	22953	HP:0003676	Progressive
OMIM:614211	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:614211	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:614211	WFS1	7466	HP:0000360	Tinnitus
OMIM:614211	WFS1	7466	HP:0003676	Progressive
OMIM:614211	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:614211	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:614211	TNC	3371	HP:0000360	Tinnitus
OMIM:614211	TNC	3371	HP:0003676	Progressive
OMIM:614211	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:614211	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:614211	KCNQ4	9132	HP:0000360	Tinnitus
OMIM:614211	KCNQ4	9132	HP:0003676	Progressive
OMIM:614211	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:614211	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:614211	HOMER2	9455	HP:0000360	Tinnitus
OMIM:614211	HOMER2	9455	HP:0003676	Progressive
OMIM:614211	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:614211	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:614211	GJB6	10804	HP:0000360	Tinnitus
OMIM:614211	GJB6	10804	HP:0003676	Progressive
OMIM:614211	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:614211	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:614211	TBC1D24	57465	HP:0000360	Tinnitus
OMIM:614211	TBC1D24	57465	HP:0003676	Progressive
OMIM:182601	SPAST	6683	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:182601	SPAST	6683	HP:0000741	Apathy
OMIM:182601	SPAST	6683	HP:0000006	Autosomal dominant inheritance
OMIM:182601	SPAST	6683	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:182601	SPAST	6683	HP:0003676	Progressive
OMIM:182601	SPAST	6683	HP:0003828	Variable expressivity
OMIM:182601	SPAST	6683	HP:0002064	Spastic gait
OMIM:182601	SPAST	6683	HP:0002354	Memory impairment
OMIM:182601	SPAST	6683	HP:0000716	Depression
OMIM:182601	SPAST	6683	HP:0001249	Intellectual disability
OMIM:182601	SPAST	6683	HP:0000012	Urinary urgency
OMIM:182601	SPAST	6683	HP:0000639	Nystagmus
OMIM:182601	SPAST	6683	HP:0001258	Spastic paraplegia
OMIM:182601	SPAST	6683	HP:0000718	Aggressive behavior
OMIM:182601	SPAST	6683	HP:0001347	Hyperreflexia
OMIM:182601	SPAST	6683	HP:0000713	Agitation
OMIM:182601	SPAST	6683	HP:0003487	Babinski sign
OMIM:182601	SPAST	6683	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:182601	SPAST	6683	HP:0000726	Dementia
OMIM:182601	SPAST	6683	HP:0007340	Lower limb muscle weakness
OMIM:182601	SPAST	6683	HP:0000020	Urinary incontinence
OMIM:182601	SPAST	6683	HP:0010550	Paraplegia
OMIM:602093	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	AIPL1	23746	HP:0000613	Photophobia
OMIM:602093	AIPL1	23746	HP:0000006	Autosomal dominant inheritance
OMIM:602093	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	PITPNM3	83394	HP:0000613	Photophobia
OMIM:602093	PITPNM3	83394	HP:0000006	Autosomal dominant inheritance
OMIM:602093	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	OPN1LW	5956	HP:0000613	Photophobia
OMIM:602093	OPN1LW	5956	HP:0000006	Autosomal dominant inheritance
OMIM:602093	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	UNC119	9094	HP:0000613	Photophobia
OMIM:602093	UNC119	9094	HP:0000006	Autosomal dominant inheritance
OMIM:602093	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:602093	RPGRIP1	57096	HP:0000006	Autosomal dominant inheritance
OMIM:602093	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	PRPH2	5961	HP:0000613	Photophobia
OMIM:602093	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:602093	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	CACNA1F	778	HP:0000613	Photophobia
OMIM:602093	CACNA1F	778	HP:0000006	Autosomal dominant inheritance
OMIM:602093	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	PROM1	8842	HP:0000613	Photophobia
OMIM:602093	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:602093	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	DRAM2	128338	HP:0000613	Photophobia
OMIM:602093	DRAM2	128338	HP:0000006	Autosomal dominant inheritance
OMIM:602093	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:602093	CACNA2D4	93589	HP:0000006	Autosomal dominant inheritance
OMIM:602093	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	RAB28	9364	HP:0000613	Photophobia
OMIM:602093	RAB28	9364	HP:0000006	Autosomal dominant inheritance
OMIM:602093	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	RIMS1	22999	HP:0000613	Photophobia
OMIM:602093	RIMS1	22999	HP:0000006	Autosomal dominant inheritance
OMIM:602093	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	RPGR	6103	HP:0000613	Photophobia
OMIM:602093	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:602093	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	ABCA4	24	HP:0000613	Photophobia
OMIM:602093	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:602093	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	SEMA4A	64218	HP:0000613	Photophobia
OMIM:602093	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:602093	PDE6C	5146	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	PDE6C	5146	HP:0000613	Photophobia
OMIM:602093	PDE6C	5146	HP:0000006	Autosomal dominant inheritance
OMIM:602093	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	C8ORF37	157657	HP:0000613	Photophobia
OMIM:602093	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:602093	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	OPN1MW	2652	HP:0000613	Photophobia
OMIM:602093	OPN1MW	2652	HP:0000006	Autosomal dominant inheritance
OMIM:602093	GNAT2	2780	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	GNAT2	2780	HP:0000613	Photophobia
OMIM:602093	GNAT2	2780	HP:0000006	Autosomal dominant inheritance
OMIM:602093	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	GUCA1A	2978	HP:0000613	Photophobia
OMIM:602093	GUCA1A	2978	HP:0000006	Autosomal dominant inheritance
OMIM:602093	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	RAX2	84839	HP:0000613	Photophobia
OMIM:602093	RAX2	84839	HP:0000006	Autosomal dominant inheritance
OMIM:602093	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	CNGA3	1261	HP:0000613	Photophobia
OMIM:602093	CNGA3	1261	HP:0000006	Autosomal dominant inheritance
OMIM:602093	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	ADAM9	8754	HP:0000613	Photophobia
OMIM:602093	ADAM9	8754	HP:0000006	Autosomal dominant inheritance
OMIM:602093	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	CDHR1	92211	HP:0000613	Photophobia
OMIM:602093	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:602093	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	TTLL5	23093	HP:0000613	Photophobia
OMIM:602093	TTLL5	23093	HP:0000006	Autosomal dominant inheritance
OMIM:602093	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	GUCY2D	3000	HP:0000613	Photophobia
OMIM:602093	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:602093	CNGB3	54714	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	CNGB3	54714	HP:0000613	Photophobia
OMIM:602093	CNGB3	54714	HP:0000006	Autosomal dominant inheritance
OMIM:602093	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	POC1B	282809	HP:0000613	Photophobia
OMIM:602093	POC1B	282809	HP:0000006	Autosomal dominant inheritance
OMIM:602093	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:602093	CRX	1406	HP:0000613	Photophobia
OMIM:602093	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:271700	COL2A1	1280	HP:0000944	Abnormality of the metaphyses
OMIM:271700	COL2A1	1280	HP:0001163	Abnormality of the metacarpal bones
OMIM:271700	COL2A1	1280	HP:0010743	Short metatarsal
OMIM:271700	COL2A1	1280	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:271700	COL2A1	1280	HP:0001552	Barrel-shaped chest
OMIM:271700	COL2A1	1280	HP:0002997	Abnormality of the ulna
OMIM:271700	COL2A1	1280	HP:0004322	Short stature
OMIM:271700	COL2A1	1280	HP:0000768	Pectus carinatum
OMIM:271700	COL2A1	1280	HP:0001156	Brachydactyly syndrome
OMIM:271700	COL2A1	1280	HP:0003312	Abnormal form of the vertebral bodies
OMIM:271700	COL2A1	1280	HP:0009778	Short thumb
OMIM:271700	COL2A1	1280	HP:0000272	Malar flattening
OMIM:271700	COL2A1	1280	HP:0000407	Sensorineural hearing impairment
OMIM:271700	COL2A1	1280	HP:0001376	Limitation of joint mobility
OMIM:271700	COL2A1	1280	HP:0002983	Micromelia
OMIM:271700	COL2A1	1280	HP:0009882	Short distal phalanx of finger
OMIM:271700	COL2A1	1280	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:271700	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:271700	COL2A1	1280	HP:0001773	Short foot
OMIM:271700	COL2A1	1280	HP:0011800	Hypoplasia of midface
OMIM:271700	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:271700	COL2A1	1280	HP:0004227	Short distal phalanx of the 5th finger
OMIM:271700	COL2A1	1280	HP:0001831	Short toe
OMIM:271700	COL2A1	1280	HP:0003022	Hypoplasia of the ulna
OMIM:271700	COL2A1	1280	HP:0011304	Broad thumb
OMIM:271700	COL2A1	1280	HP:0010579	Cone-shaped epiphysis
OMIM:271700	COL2A1	1280	HP:0010049	Short metacarpal
OMIM:271700	COL2A1	1280	HP:0002808	Kyphosis
OMIM:610313	CLCF1	23529	HP:0000975	Hyperhidrosis
OMIM:610313	CLCF1	23529	HP:0007141	Sensorimotor neuropathy
OMIM:610313	CLCF1	23529	HP:0009466	Radial deviation of finger
OMIM:610313	CLCF1	23529	HP:0008872	Feeding difficulties in infancy
OMIM:610313	CLCF1	23529	HP:0030084	Clinodactyly
OMIM:610313	CLCF1	23529	HP:0001760	Abnormality of the foot
OMIM:610313	CLCF1	23529	HP:0004691	2-3 toe syndactyly
OMIM:610313	CLCF1	23529	HP:0000007	Autosomal recessive inheritance
OMIM:610313	CLCF1	23529	HP:0000218	High palate
OMIM:610313	CLCF1	23529	HP:0002938	Lumbar hyperlordosis
OMIM:610313	CLCF1	23529	HP:0002944	Thoracolumbar scoliosis
OMIM:610313	CLCF1	23529	HP:0010628	Facial palsy
OMIM:610313	CLCF1	23529	HP:0000411	Protruding ear
OMIM:610313	CLCF1	23529	HP:0002967	Cubitus valgus
OMIM:610313	CRLF1	9244	HP:0000975	Hyperhidrosis
OMIM:610313	CRLF1	9244	HP:0007141	Sensorimotor neuropathy
OMIM:610313	CRLF1	9244	HP:0009466	Radial deviation of finger
OMIM:610313	CRLF1	9244	HP:0008872	Feeding difficulties in infancy
OMIM:610313	CRLF1	9244	HP:0030084	Clinodactyly
OMIM:610313	CRLF1	9244	HP:0001760	Abnormality of the foot
OMIM:610313	CRLF1	9244	HP:0004691	2-3 toe syndactyly
OMIM:610313	CRLF1	9244	HP:0000007	Autosomal recessive inheritance
OMIM:610313	CRLF1	9244	HP:0000218	High palate
OMIM:610313	CRLF1	9244	HP:0002938	Lumbar hyperlordosis
OMIM:610313	CRLF1	9244	HP:0002944	Thoracolumbar scoliosis
OMIM:610313	CRLF1	9244	HP:0010628	Facial palsy
OMIM:610313	CRLF1	9244	HP:0000411	Protruding ear
OMIM:610313	CRLF1	9244	HP:0002967	Cubitus valgus
OMIM:268150	RHAG	6005	HP:0000952	Jaundice
OMIM:268150	RHAG	6005	HP:0001878	Hemolytic anemia
OMIM:268150	RHAG	6005	HP:0000007	Autosomal recessive inheritance
OMIM:268150	RHCE	6006	HP:0000952	Jaundice
OMIM:268150	RHCE	6006	HP:0001878	Hemolytic anemia
OMIM:268150	RHCE	6006	HP:0000007	Autosomal recessive inheritance
OMIM:268150	RHD	6007	HP:0000952	Jaundice
OMIM:268150	RHD	6007	HP:0001878	Hemolytic anemia
OMIM:268150	RHD	6007	HP:0000007	Autosomal recessive inheritance
OMIM:615113	VSX2	338917	HP:0000007	Autosomal recessive inheritance
OMIM:615113	VSX2	338917	HP:0000609	Optic nerve hypoplasia
OMIM:615113	VSX2	338917	HP:0000589	Coloboma
OMIM:615113	VSX2	338917	HP:0000568	Microphthalmia
OMIM:615113	VSX2	338917	HP:0000541	Retinal detachment
OMIM:615113	SOX2	6657	HP:0000007	Autosomal recessive inheritance
OMIM:615113	SOX2	6657	HP:0000609	Optic nerve hypoplasia
OMIM:615113	SOX2	6657	HP:0000589	Coloboma
OMIM:615113	SOX2	6657	HP:0000568	Microphthalmia
OMIM:615113	SOX2	6657	HP:0000541	Retinal detachment
OMIM:615113	GDF3	9573	HP:0000007	Autosomal recessive inheritance
OMIM:615113	GDF3	9573	HP:0000609	Optic nerve hypoplasia
OMIM:615113	GDF3	9573	HP:0000589	Coloboma
OMIM:615113	GDF3	9573	HP:0000568	Microphthalmia
OMIM:615113	GDF3	9573	HP:0000541	Retinal detachment
OMIM:615113	OTX2	5015	HP:0000007	Autosomal recessive inheritance
OMIM:615113	OTX2	5015	HP:0000609	Optic nerve hypoplasia
OMIM:615113	OTX2	5015	HP:0000589	Coloboma
OMIM:615113	OTX2	5015	HP:0000568	Microphthalmia
OMIM:615113	OTX2	5015	HP:0000541	Retinal detachment
OMIM:615113	PRSS56	646960	HP:0000007	Autosomal recessive inheritance
OMIM:615113	PRSS56	646960	HP:0000609	Optic nerve hypoplasia
OMIM:615113	PRSS56	646960	HP:0000589	Coloboma
OMIM:615113	PRSS56	646960	HP:0000568	Microphthalmia
OMIM:615113	PRSS56	646960	HP:0000541	Retinal detachment
OMIM:615113	ALDH1A3	220	HP:0000007	Autosomal recessive inheritance
OMIM:615113	ALDH1A3	220	HP:0000609	Optic nerve hypoplasia
OMIM:615113	ALDH1A3	220	HP:0000589	Coloboma
OMIM:615113	ALDH1A3	220	HP:0000568	Microphthalmia
OMIM:615113	ALDH1A3	220	HP:0000541	Retinal detachment
OMIM:615113	SIX6	4990	HP:0000007	Autosomal recessive inheritance
OMIM:615113	SIX6	4990	HP:0000609	Optic nerve hypoplasia
OMIM:615113	SIX6	4990	HP:0000589	Coloboma
OMIM:615113	SIX6	4990	HP:0000568	Microphthalmia
OMIM:615113	SIX6	4990	HP:0000541	Retinal detachment
OMIM:615113	RAX	30062	HP:0000007	Autosomal recessive inheritance
OMIM:615113	RAX	30062	HP:0000609	Optic nerve hypoplasia
OMIM:615113	RAX	30062	HP:0000589	Coloboma
OMIM:615113	RAX	30062	HP:0000568	Microphthalmia
OMIM:615113	RAX	30062	HP:0000541	Retinal detachment
OMIM:217400	SLC4A11	83959	HP:0007759	Opacification of the corneal stroma
OMIM:217400	SLC4A11	83959	HP:0000007	Autosomal recessive inheritance
OMIM:217400	SLC4A11	83959	HP:0001131	Corneal dystrophy
OMIM:217400	SLC4A11	83959	HP:0000639	Nystagmus
OMIM:217400	SLC4A11	83959	HP:0000505	Visual impairment
OMIM:217400	SLC4A11	83959	HP:0000365	Hearing impairment
OMIM:217400	SLC4A11	83959	HP:0000407	Sensorineural hearing impairment
OMIM:614204	AP1S3	130340	HP:0000007	Autosomal recessive inheritance
OMIM:614204	AP1S3	130340	HP:0001945	Fever
OMIM:614204	AP1S3	130340	HP:0002164	Nail dysplasia
OMIM:614204	AP1S3	130340	HP:0008404	Nail dystrophy
OMIM:614204	IL36RN	26525	HP:0000007	Autosomal recessive inheritance
OMIM:614204	IL36RN	26525	HP:0001945	Fever
OMIM:614204	IL36RN	26525	HP:0002164	Nail dysplasia
OMIM:614204	IL36RN	26525	HP:0008404	Nail dystrophy
OMIM:607417	METTL23	124512	HP:0001263	Global developmental delay
OMIM:607417	METTL23	124512	HP:0001256	Intellectual disability, mild
OMIM:607417	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:607417	CRADD	8738	HP:0001263	Global developmental delay
OMIM:607417	CRADD	8738	HP:0001256	Intellectual disability, mild
OMIM:607417	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:607417	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:607417	NSUN2	54888	HP:0001256	Intellectual disability, mild
OMIM:607417	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:607417	FMN2	56776	HP:0001263	Global developmental delay
OMIM:607417	FMN2	56776	HP:0001256	Intellectual disability, mild
OMIM:607417	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:607417	CLIP1	6249	HP:0001263	Global developmental delay
OMIM:607417	CLIP1	6249	HP:0001256	Intellectual disability, mild
OMIM:607417	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:607417	ZC3H14	79882	HP:0001263	Global developmental delay
OMIM:607417	ZC3H14	79882	HP:0001256	Intellectual disability, mild
OMIM:607417	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:607417	PRSS12	8492	HP:0001263	Global developmental delay
OMIM:607417	PRSS12	8492	HP:0001256	Intellectual disability, mild
OMIM:607417	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:607417	LINS1	55180	HP:0001263	Global developmental delay
OMIM:607417	LINS1	55180	HP:0001256	Intellectual disability, mild
OMIM:607417	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:607417	NDST1	3340	HP:0001263	Global developmental delay
OMIM:607417	NDST1	3340	HP:0001256	Intellectual disability, mild
OMIM:607417	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:607417	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:607417	CC2D1A	54862	HP:0001256	Intellectual disability, mild
OMIM:607417	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:607417	FBXO31	79791	HP:0001263	Global developmental delay
OMIM:607417	FBXO31	79791	HP:0001256	Intellectual disability, mild
OMIM:607417	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:607417	CRBN	51185	HP:0001263	Global developmental delay
OMIM:607417	CRBN	51185	HP:0001256	Intellectual disability, mild
OMIM:607417	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:607417	TRAPPC9	83696	HP:0001263	Global developmental delay
OMIM:607417	TRAPPC9	83696	HP:0001256	Intellectual disability, mild
OMIM:607417	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:607417	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:607417	GRIK2	2898	HP:0001256	Intellectual disability, mild
OMIM:607417	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:607417	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:607417	SLC6A17	388662	HP:0001256	Intellectual disability, mild
OMIM:607417	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:607417	TECR	9524	HP:0001263	Global developmental delay
OMIM:607417	TECR	9524	HP:0001256	Intellectual disability, mild
OMIM:607417	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:607417	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:607417	MAN1B1	11253	HP:0001256	Intellectual disability, mild
OMIM:607417	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:607417	TUSC3	7991	HP:0001263	Global developmental delay
OMIM:607417	TUSC3	7991	HP:0001256	Intellectual disability, mild
OMIM:607417	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:607417	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:607417	ST3GAL3	6487	HP:0001256	Intellectual disability, mild
OMIM:607417	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:607417	EDC3	80153	HP:0001263	Global developmental delay
OMIM:607417	EDC3	80153	HP:0001256	Intellectual disability, mild
OMIM:607417	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:607417	MED13L	23389	HP:0001263	Global developmental delay
OMIM:607417	MED13L	23389	HP:0001256	Intellectual disability, mild
OMIM:607417	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:607417	KIAA1033	23325	HP:0001263	Global developmental delay
OMIM:607417	KIAA1033	23325	HP:0001256	Intellectual disability, mild
OMIM:607417	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:607417	MED23	9439	HP:0001263	Global developmental delay
OMIM:607417	MED23	9439	HP:0001256	Intellectual disability, mild
OMIM:607417	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:615596	STT3A	3703	HP:0001272	Cerebellar atrophy
OMIM:615596	STT3A	3703	HP:0000252	Microcephaly
OMIM:615596	STT3A	3703	HP:0001263	Global developmental delay
OMIM:615596	STT3A	3703	HP:0001250	Seizures
OMIM:615596	STT3A	3703	HP:0000007	Autosomal recessive inheritance
OMIM:615596	STT3A	3703	HP:0001252	Muscular hypotonia
OMIM:615596	STT3A	3703	HP:0011968	Feeding difficulties
OMIM:615596	STT3A	3703	HP:0003577	Congenital onset
OMIM:615596	STT3A	3703	HP:0001508	Failure to thrive
OMIM:615596	STT3A	3703	HP:0001249	Intellectual disability
OMIM:235510	FAT4	79633	HP:0002035	Rectal prolapse
OMIM:235510	FAT4	79633	HP:0001537	Umbilical hernia
OMIM:235510	FAT4	79633	HP:0001773	Short foot
OMIM:235510	FAT4	79633	HP:0003073	Hypoalbuminemia
OMIM:235510	FAT4	79633	HP:0000407	Sensorineural hearing impairment
OMIM:235510	FAT4	79633	HP:0000189	Narrow palate
OMIM:235510	FAT4	79633	HP:0000212	Gingival overgrowth
OMIM:235510	FAT4	79633	HP:0012368	Flat face
OMIM:235510	FAT4	79633	HP:0200055	Small hand
OMIM:235510	FAT4	79633	HP:0009473	Joint contracture of the hand
OMIM:235510	FAT4	79633	HP:0000007	Autosomal recessive inheritance
OMIM:235510	FAT4	79633	HP:0000286	Epicanthus
OMIM:235510	FAT4	79633	HP:0000272	Malar flattening
OMIM:235510	FAT4	79633	HP:0000126	Hydronephrosis
OMIM:235510	FAT4	79633	HP:0004440	Coronal craniosynostosis
OMIM:235510	FAT4	79633	HP:0000278	Retrognathia
OMIM:235510	FAT4	79633	HP:0100539	Periorbital edema
OMIM:235510	FAT4	79633	HP:0000160	Narrow mouth
OMIM:235510	FAT4	79633	HP:0000431	Wide nasal bridge
OMIM:235510	FAT4	79633	HP:0001302	Pachygyria
OMIM:235510	FAT4	79633	HP:0000767	Pectus excavatum
OMIM:235510	FAT4	79633	HP:0000028	Cryptorchidism
OMIM:235510	FAT4	79633	HP:0000369	Low-set ears
OMIM:235510	FAT4	79633	HP:0000316	Hypertelorism
OMIM:235510	FAT4	79633	HP:0002650	Scoliosis
OMIM:235510	FAT4	79633	HP:0001762	Talipes equinovarus
OMIM:235510	FAT4	79633	HP:0000076	Vesicoureteral reflux
OMIM:235510	FAT4	79633	HP:0000684	Delayed eruption of teeth
OMIM:235510	FAT4	79633	HP:0004279	Short palm
OMIM:235510	FAT4	79633	HP:0000086	Ectopic kidney
OMIM:235510	FAT4	79633	HP:0001629	Ventricular septal defect
OMIM:235510	FAT4	79633	HP:0003298	Spina bifida occulta
OMIM:235510	FAT4	79633	HP:0000319	Smooth philtrum
OMIM:235510	FAT4	79633	HP:0000337	Broad forehead
OMIM:235510	FAT4	79633	HP:0000085	Horseshoe kidney
OMIM:235510	FAT4	79633	HP:0001004	Lymphedema
OMIM:235510	FAT4	79633	HP:0001631	Atria septal defect
OMIM:235510	FAT4	79633	HP:0012385	Camptodactyly
OMIM:235510	FAT4	79633	HP:0001007	Hirsutism
OMIM:235510	FAT4	79633	HP:0000501	Glaucoma
OMIM:235510	FAT4	79633	HP:0000405	Conductive hearing impairment
OMIM:235510	FAT4	79633	HP:0001250	Seizures
OMIM:235510	FAT4	79633	HP:0001249	Intellectual disability
OMIM:235510	FAT4	79633	HP:0005280	Depressed nasal bridge
OMIM:235510	FAT4	79633	HP:0000752	Hyperactivity
OMIM:235510	FAT4	79633	HP:0010554	Cutaneous finger syndactyly
OMIM:235510	FAT4	79633	HP:0002750	Delayed skeletal maturation
OMIM:235510	CCBE1	147372	HP:0002035	Rectal prolapse
OMIM:235510	CCBE1	147372	HP:0001537	Umbilical hernia
OMIM:235510	CCBE1	147372	HP:0001773	Short foot
OMIM:235510	CCBE1	147372	HP:0003073	Hypoalbuminemia
OMIM:235510	CCBE1	147372	HP:0000407	Sensorineural hearing impairment
OMIM:235510	CCBE1	147372	HP:0000189	Narrow palate
OMIM:235510	CCBE1	147372	HP:0000212	Gingival overgrowth
OMIM:235510	CCBE1	147372	HP:0012368	Flat face
OMIM:235510	CCBE1	147372	HP:0200055	Small hand
OMIM:235510	CCBE1	147372	HP:0009473	Joint contracture of the hand
OMIM:235510	CCBE1	147372	HP:0000007	Autosomal recessive inheritance
OMIM:235510	CCBE1	147372	HP:0000286	Epicanthus
OMIM:235510	CCBE1	147372	HP:0000272	Malar flattening
OMIM:235510	CCBE1	147372	HP:0000126	Hydronephrosis
OMIM:235510	CCBE1	147372	HP:0004440	Coronal craniosynostosis
OMIM:235510	CCBE1	147372	HP:0000278	Retrognathia
OMIM:235510	CCBE1	147372	HP:0100539	Periorbital edema
OMIM:235510	CCBE1	147372	HP:0000160	Narrow mouth
OMIM:235510	CCBE1	147372	HP:0000431	Wide nasal bridge
OMIM:235510	CCBE1	147372	HP:0001302	Pachygyria
OMIM:235510	CCBE1	147372	HP:0000767	Pectus excavatum
OMIM:235510	CCBE1	147372	HP:0000028	Cryptorchidism
OMIM:235510	CCBE1	147372	HP:0000369	Low-set ears
OMIM:235510	CCBE1	147372	HP:0000316	Hypertelorism
OMIM:235510	CCBE1	147372	HP:0002650	Scoliosis
OMIM:235510	CCBE1	147372	HP:0001762	Talipes equinovarus
OMIM:235510	CCBE1	147372	HP:0000076	Vesicoureteral reflux
OMIM:235510	CCBE1	147372	HP:0000684	Delayed eruption of teeth
OMIM:235510	CCBE1	147372	HP:0004279	Short palm
OMIM:235510	CCBE1	147372	HP:0000086	Ectopic kidney
OMIM:235510	CCBE1	147372	HP:0001629	Ventricular septal defect
OMIM:235510	CCBE1	147372	HP:0003298	Spina bifida occulta
OMIM:235510	CCBE1	147372	HP:0000319	Smooth philtrum
OMIM:235510	CCBE1	147372	HP:0000337	Broad forehead
OMIM:235510	CCBE1	147372	HP:0000085	Horseshoe kidney
OMIM:235510	CCBE1	147372	HP:0001004	Lymphedema
OMIM:235510	CCBE1	147372	HP:0001631	Atria septal defect
OMIM:235510	CCBE1	147372	HP:0012385	Camptodactyly
OMIM:235510	CCBE1	147372	HP:0001007	Hirsutism
OMIM:235510	CCBE1	147372	HP:0000501	Glaucoma
OMIM:235510	CCBE1	147372	HP:0000405	Conductive hearing impairment
OMIM:235510	CCBE1	147372	HP:0001250	Seizures
OMIM:235510	CCBE1	147372	HP:0001249	Intellectual disability
OMIM:235510	CCBE1	147372	HP:0005280	Depressed nasal bridge
OMIM:235510	CCBE1	147372	HP:0000752	Hyperactivity
OMIM:235510	CCBE1	147372	HP:0010554	Cutaneous finger syndactyly
OMIM:235510	CCBE1	147372	HP:0002750	Delayed skeletal maturation
OMIM:605750	FZD4	8322	HP:0007663	Reduced visual acuity
OMIM:605750	FZD4	8322	HP:0000541	Retinal detachment
OMIM:605750	TSPAN12	23554	HP:0007663	Reduced visual acuity
OMIM:605750	TSPAN12	23554	HP:0000541	Retinal detachment
OMIM:605750	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:605750	ZNF408	79797	HP:0000541	Retinal detachment
OMIM:605750	NDP	4693	HP:0007663	Reduced visual acuity
OMIM:605750	NDP	4693	HP:0000541	Retinal detachment
OMIM:605750	LRP5	4041	HP:0007663	Reduced visual acuity
OMIM:605750	LRP5	4041	HP:0000541	Retinal detachment
OMIM:122100	KRT12	3859	HP:0003680	Nonprogressive
OMIM:122100	KRT12	3859	HP:0000006	Autosomal dominant inheritance
OMIM:122100	KRT12	3859	HP:0001131	Corneal dystrophy
OMIM:122100	KRT3	3850	HP:0003680	Nonprogressive
OMIM:122100	KRT3	3850	HP:0000006	Autosomal dominant inheritance
OMIM:122100	KRT3	3850	HP:0001131	Corneal dystrophy
OMIM:615106	PTEN	5728	HP:0100031	Neoplasm of the thyroid gland
OMIM:615106	PTEN	5728	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:615106	KLLN	100144748	HP:0100031	Neoplasm of the thyroid gland
OMIM:615106	KLLN	100144748	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:615106	SDHB	6390	HP:0100031	Neoplasm of the thyroid gland
OMIM:615106	SDHB	6390	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:615106	SDHC	6391	HP:0100031	Neoplasm of the thyroid gland
OMIM:615106	SDHC	6391	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:615106	SDHD	6392	HP:0100031	Neoplasm of the thyroid gland
OMIM:615106	SDHD	6392	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:615106	PIK3CA	5290	HP:0100031	Neoplasm of the thyroid gland
OMIM:615106	PIK3CA	5290	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:615106	AKT1	207	HP:0100031	Neoplasm of the thyroid gland
OMIM:615106	AKT1	207	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:614819	ADAMTS10	81794	HP:0001642	Pulmonic stenosis
OMIM:614819	ADAMTS10	81794	HP:0000545	Myopia
OMIM:614819	ADAMTS10	81794	HP:0001156	Brachydactyly syndrome
OMIM:614819	ADAMTS10	81794	HP:0004322	Short stature
OMIM:614819	ADAMTS10	81794	HP:0001083	Ectopia lentis
OMIM:614819	ADAMTS10	81794	HP:0000007	Autosomal recessive inheritance
OMIM:614819	ADAMTS10	81794	HP:0001387	Joint stiffness
OMIM:614819	ADAMTS10	81794	HP:0001650	Aortic valve stenosis
OMIM:614819	LTBP2	4053	HP:0001642	Pulmonic stenosis
OMIM:614819	LTBP2	4053	HP:0000545	Myopia
OMIM:614819	LTBP2	4053	HP:0001156	Brachydactyly syndrome
OMIM:614819	LTBP2	4053	HP:0004322	Short stature
OMIM:614819	LTBP2	4053	HP:0001083	Ectopia lentis
OMIM:614819	LTBP2	4053	HP:0000007	Autosomal recessive inheritance
OMIM:614819	LTBP2	4053	HP:0001387	Joint stiffness
OMIM:614819	LTBP2	4053	HP:0001650	Aortic valve stenosis
OMIM:614819	FBN1	2200	HP:0001642	Pulmonic stenosis
OMIM:614819	FBN1	2200	HP:0000545	Myopia
OMIM:614819	FBN1	2200	HP:0001156	Brachydactyly syndrome
OMIM:614819	FBN1	2200	HP:0004322	Short stature
OMIM:614819	FBN1	2200	HP:0001083	Ectopia lentis
OMIM:614819	FBN1	2200	HP:0000007	Autosomal recessive inheritance
OMIM:614819	FBN1	2200	HP:0001387	Joint stiffness
OMIM:614819	FBN1	2200	HP:0001650	Aortic valve stenosis
OMIM:608470	TGFBI	7045	HP:0000613	Photophobia
OMIM:608470	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:608470	TGFBI	7045	HP:0000486	Strabismus
OMIM:608470	TGFBI	7045	HP:0001131	Corneal dystrophy
OMIM:608470	TGFBI	7045	HP:0007759	Opacification of the corneal stroma
OMIM:155255	PTCH2	8643	HP:0000006	Autosomal dominant inheritance
OMIM:155255	PTCH2	8643	HP:0002885	Medulloblastoma
OMIM:155255	SUFU	51684	HP:0000006	Autosomal dominant inheritance
OMIM:155255	SUFU	51684	HP:0002885	Medulloblastoma
OMIM:601583	POU6F2	11281	HP:0000006	Autosomal dominant inheritance
OMIM:601583	POU6F2	11281	HP:0001428	Somatic mutation
OMIM:601583	POU6F2	11281	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:601583	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:601583	WT1	7490	HP:0001428	Somatic mutation
OMIM:601583	WT1	7490	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:601583	H19	283120	HP:0000006	Autosomal dominant inheritance
OMIM:601583	H19	283120	HP:0001428	Somatic mutation
OMIM:601583	H19	283120	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:601583	DIS3L2	129563	HP:0000006	Autosomal dominant inheritance
OMIM:601583	DIS3L2	129563	HP:0001428	Somatic mutation
OMIM:601583	DIS3L2	129563	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:614072	HPS5	11234	HP:0000639	Nystagmus
OMIM:614072	HPS5	11234	HP:0000505	Visual impairment
OMIM:614072	HPS5	11234	HP:0011883	Abnormal platelet granules
OMIM:614072	HPS5	11234	HP:0000007	Autosomal recessive inheritance
OMIM:614072	HPS5	11234	HP:0001892	Abnormal bleeding
OMIM:614072	HPS3	84343	HP:0000639	Nystagmus
OMIM:614072	HPS3	84343	HP:0000505	Visual impairment
OMIM:614072	HPS3	84343	HP:0011883	Abnormal platelet granules
OMIM:614072	HPS3	84343	HP:0000007	Autosomal recessive inheritance
OMIM:614072	HPS3	84343	HP:0001892	Abnormal bleeding
OMIM:614072	HPS6	79803	HP:0000639	Nystagmus
OMIM:614072	HPS6	79803	HP:0000505	Visual impairment
OMIM:614072	HPS6	79803	HP:0011883	Abnormal platelet granules
OMIM:614072	HPS6	79803	HP:0000007	Autosomal recessive inheritance
OMIM:614072	HPS6	79803	HP:0001892	Abnormal bleeding
OMIM:602079	FMO3	2328	HP:0000822	Hypertension
OMIM:602079	FMO3	2328	HP:0000007	Autosomal recessive inheritance
OMIM:602079	FMO3	2328	HP:0001744	Splenomegaly
OMIM:602079	FMO3	2328	HP:0006532	Recurrent pneumonia
OMIM:602079	FMO3	2328	HP:0000716	Depression
OMIM:602079	FMO3	2328	HP:0001903	Anemia
OMIM:602079	FMO3	2328	HP:0001649	Tachycardia
OMIM:602079	FMO3	2328	HP:0001875	Neutropenia
OMIM:616152	IMPG1	3617	HP:0000603	Central scotoma
OMIM:616152	IMPG1	3617	HP:0000006	Autosomal dominant inheritance
OMIM:616152	IMPG1	3617	HP:0007663	Reduced visual acuity
OMIM:616152	PRPH2	5961	HP:0000603	Central scotoma
OMIM:616152	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:616152	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:616152	IMPG2	50939	HP:0000603	Central scotoma
OMIM:616152	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:616152	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:616152	BEST1	7439	HP:0000603	Central scotoma
OMIM:616152	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:616152	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:615505	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:615505	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:615505	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:615505	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:615505	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:615505	CCNO	10309	HP:0000246	Sinusitis
OMIM:615505	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:615505	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:615505	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:615505	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:615505	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:615505	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:615505	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:615505	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:615505	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:615505	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:615505	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:615505	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:615505	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:615505	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:615505	DNAI1	27019	HP:0000246	Sinusitis
OMIM:615505	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:615505	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:615505	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:615505	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:615505	DRC1	92749	HP:0000246	Sinusitis
OMIM:615505	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:615505	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:615505	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:615505	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:615505	SPAG1	6674	HP:0000246	Sinusitis
OMIM:615505	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:615505	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:615505	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:615505	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:615505	RSPH3	83861	HP:0000246	Sinusitis
OMIM:615505	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:615505	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:615505	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:615505	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:615505	RPGR	6103	HP:0000246	Sinusitis
OMIM:615505	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:615505	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615505	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:615505	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:615505	LRRC6	23639	HP:0000246	Sinusitis
OMIM:615505	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:615505	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:615505	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:615505	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:615505	DNAL1	83544	HP:0000246	Sinusitis
OMIM:615505	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:615505	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:615505	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:615505	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:615505	ARMC4	55130	HP:0000246	Sinusitis
OMIM:615505	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:615505	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:615505	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:615505	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:615505	CCDC103	388389	HP:0000246	Sinusitis
OMIM:615505	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:615505	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:615505	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:615505	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:615505	OFD1	8481	HP:0000246	Sinusitis
OMIM:615505	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:615505	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615505	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:615505	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:615505	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:615505	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:615505	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:615505	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:615505	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:615505	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:615505	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:615505	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:615505	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:615505	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:615505	RSPH1	89765	HP:0000246	Sinusitis
OMIM:615505	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:615505	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:615505	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:615505	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:615505	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:615505	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:615505	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:615505	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:615505	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:615505	DNAH5	1767	HP:0000246	Sinusitis
OMIM:615505	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:615505	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:615505	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:615505	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:615505	CCDC65	85478	HP:0000246	Sinusitis
OMIM:615505	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:615505	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:615505	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:615505	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:615505	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:615505	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:615505	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:615505	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:615505	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:615505	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:615505	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:615505	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:615505	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:615505	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:615505	CCDC151	115948	HP:0000246	Sinusitis
OMIM:615505	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:615505	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:615505	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:615505	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:615505	RSPH9	221421	HP:0000246	Sinusitis
OMIM:615505	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:615505	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:615505	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:615505	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:615505	CCDC39	339829	HP:0000246	Sinusitis
OMIM:615505	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:615505	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:615505	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:615505	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:615505	HYDIN	54768	HP:0000246	Sinusitis
OMIM:615505	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:615505	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:615505	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:615505	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:615505	CCDC114	93233	HP:0000246	Sinusitis
OMIM:615505	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:615505	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:615505	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:615505	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:615505	NME8	51314	HP:0000246	Sinusitis
OMIM:615505	NME8	51314	HP:0002110	Bronchiectasis
OMIM:615505	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:615505	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:615505	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:615505	CCDC40	55036	HP:0000246	Sinusitis
OMIM:615505	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:615505	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:615505	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:615505	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:615505	DNAH11	8701	HP:0000246	Sinusitis
OMIM:615505	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:615505	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:615505	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:615505	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:615505	DNAI2	64446	HP:0000246	Sinusitis
OMIM:615505	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:615505	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:615505	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:615505	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:615505	GAS8	2622	HP:0000246	Sinusitis
OMIM:615505	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:615505	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:615505	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:615505	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:616099	KANK2	25959	HP:0002209	Sparse scalp hair
OMIM:616099	KANK2	25959	HP:0000982	Palmoplantar keratoderma
OMIM:616099	KANK2	25959	HP:0000653	Sparse eyelashes
OMIM:616099	KANK2	25959	HP:0000535	Sparse eyebrow
OMIM:616099	KANK2	25959	HP:0002224	Woolly hair
OMIM:602485	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:602485	GCK	2645	HP:0001249	Intellectual disability
OMIM:602485	GCK	2645	HP:0000819	Diabetes mellitus
OMIM:121820	TGFBI	7045	HP:0001131	Corneal dystrophy
OMIM:121820	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:112600	BMPR1B	658	HP:0000006	Autosomal dominant inheritance
OMIM:112600	BMPR1B	658	HP:0001156	Brachydactyly syndrome
OMIM:112600	BMPR1B	658	HP:0001822	Hallux valgus
OMIM:112600	BMPR1B	658	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:112600	BMPR1B	658	HP:0010109	Short hallux
OMIM:112600	BMPR1B	658	HP:0004209	Clinodactyly of the 5th finger
OMIM:112600	BMPR1B	658	HP:0009882	Short distal phalanx of finger
OMIM:112600	BMPR1B	658	HP:0001163	Abnormality of the metacarpal bones
OMIM:112600	BMPR1B	658	HP:0004691	2-3 toe syndactyly
OMIM:112600	BMPR1B	658	HP:0004220	Short middle phalanx of the 5th finger
OMIM:112600	BMPR1B	658	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
OMIM:112600	BMPR1B	658	HP:0010055	Broad hallux
OMIM:112600	BMPR1B	658	HP:0004322	Short stature
OMIM:112600	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:112600	GDF5	8200	HP:0001156	Brachydactyly syndrome
OMIM:112600	GDF5	8200	HP:0001822	Hallux valgus
OMIM:112600	GDF5	8200	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:112600	GDF5	8200	HP:0010109	Short hallux
OMIM:112600	GDF5	8200	HP:0004209	Clinodactyly of the 5th finger
OMIM:112600	GDF5	8200	HP:0009882	Short distal phalanx of finger
OMIM:112600	GDF5	8200	HP:0001163	Abnormality of the metacarpal bones
OMIM:112600	GDF5	8200	HP:0004691	2-3 toe syndactyly
OMIM:112600	GDF5	8200	HP:0004220	Short middle phalanx of the 5th finger
OMIM:112600	GDF5	8200	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
OMIM:112600	GDF5	8200	HP:0010055	Broad hallux
OMIM:112600	GDF5	8200	HP:0004322	Short stature
OMIM:112600	BMP2	650	HP:0000006	Autosomal dominant inheritance
OMIM:112600	BMP2	650	HP:0001156	Brachydactyly syndrome
OMIM:112600	BMP2	650	HP:0001822	Hallux valgus
OMIM:112600	BMP2	650	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:112600	BMP2	650	HP:0010109	Short hallux
OMIM:112600	BMP2	650	HP:0004209	Clinodactyly of the 5th finger
OMIM:112600	BMP2	650	HP:0009882	Short distal phalanx of finger
OMIM:112600	BMP2	650	HP:0001163	Abnormality of the metacarpal bones
OMIM:112600	BMP2	650	HP:0004691	2-3 toe syndactyly
OMIM:112600	BMP2	650	HP:0004220	Short middle phalanx of the 5th finger
OMIM:112600	BMP2	650	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
OMIM:112600	BMP2	650	HP:0010055	Broad hallux
OMIM:112600	BMP2	650	HP:0004322	Short stature
OMIM:176860	PROC	5624	HP:0000707	Abnormality of the nervous system
OMIM:176860	PROC	5624	HP:0002204	Pulmonary embolism
OMIM:176860	PROC	5624	HP:0000478	Abnormality of the eye
OMIM:176860	PROC	5624	HP:0000006	Autosomal dominant inheritance
OMIM:304020	AIPL1	23746	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	AIPL1	23746	HP:0000613	Photophobia
OMIM:304020	AIPL1	23746	HP:0000639	Nystagmus
OMIM:304020	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:304020	AIPL1	23746	HP:0000505	Visual impairment
OMIM:304020	AIPL1	23746	HP:0000545	Myopia
OMIM:304020	AIPL1	23746	HP:0200056	Macular scarring
OMIM:304020	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	PITPNM3	83394	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	PITPNM3	83394	HP:0000613	Photophobia
OMIM:304020	PITPNM3	83394	HP:0000639	Nystagmus
OMIM:304020	PITPNM3	83394	HP:0007663	Reduced visual acuity
OMIM:304020	PITPNM3	83394	HP:0000505	Visual impairment
OMIM:304020	PITPNM3	83394	HP:0000545	Myopia
OMIM:304020	PITPNM3	83394	HP:0200056	Macular scarring
OMIM:304020	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	OPN1LW	5956	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	OPN1LW	5956	HP:0000613	Photophobia
OMIM:304020	OPN1LW	5956	HP:0000639	Nystagmus
OMIM:304020	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:304020	OPN1LW	5956	HP:0000505	Visual impairment
OMIM:304020	OPN1LW	5956	HP:0000545	Myopia
OMIM:304020	OPN1LW	5956	HP:0200056	Macular scarring
OMIM:304020	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	UNC119	9094	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	UNC119	9094	HP:0000613	Photophobia
OMIM:304020	UNC119	9094	HP:0000639	Nystagmus
OMIM:304020	UNC119	9094	HP:0007663	Reduced visual acuity
OMIM:304020	UNC119	9094	HP:0000505	Visual impairment
OMIM:304020	UNC119	9094	HP:0000545	Myopia
OMIM:304020	UNC119	9094	HP:0200056	Macular scarring
OMIM:304020	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	RPGRIP1	57096	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:304020	RPGRIP1	57096	HP:0000639	Nystagmus
OMIM:304020	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:304020	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:304020	RPGRIP1	57096	HP:0000545	Myopia
OMIM:304020	RPGRIP1	57096	HP:0200056	Macular scarring
OMIM:304020	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	PRPH2	5961	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	PRPH2	5961	HP:0000613	Photophobia
OMIM:304020	PRPH2	5961	HP:0000639	Nystagmus
OMIM:304020	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:304020	PRPH2	5961	HP:0000505	Visual impairment
OMIM:304020	PRPH2	5961	HP:0000545	Myopia
OMIM:304020	PRPH2	5961	HP:0200056	Macular scarring
OMIM:304020	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	CACNA1F	778	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	CACNA1F	778	HP:0000613	Photophobia
OMIM:304020	CACNA1F	778	HP:0000639	Nystagmus
OMIM:304020	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:304020	CACNA1F	778	HP:0000505	Visual impairment
OMIM:304020	CACNA1F	778	HP:0000545	Myopia
OMIM:304020	CACNA1F	778	HP:0200056	Macular scarring
OMIM:304020	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	PROM1	8842	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	PROM1	8842	HP:0000613	Photophobia
OMIM:304020	PROM1	8842	HP:0000639	Nystagmus
OMIM:304020	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:304020	PROM1	8842	HP:0000505	Visual impairment
OMIM:304020	PROM1	8842	HP:0000545	Myopia
OMIM:304020	PROM1	8842	HP:0200056	Macular scarring
OMIM:304020	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	DRAM2	128338	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	DRAM2	128338	HP:0000613	Photophobia
OMIM:304020	DRAM2	128338	HP:0000639	Nystagmus
OMIM:304020	DRAM2	128338	HP:0007663	Reduced visual acuity
OMIM:304020	DRAM2	128338	HP:0000505	Visual impairment
OMIM:304020	DRAM2	128338	HP:0000545	Myopia
OMIM:304020	DRAM2	128338	HP:0200056	Macular scarring
OMIM:304020	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	CACNA2D4	93589	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:304020	CACNA2D4	93589	HP:0000639	Nystagmus
OMIM:304020	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:304020	CACNA2D4	93589	HP:0000505	Visual impairment
OMIM:304020	CACNA2D4	93589	HP:0000545	Myopia
OMIM:304020	CACNA2D4	93589	HP:0200056	Macular scarring
OMIM:304020	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	RAB28	9364	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	RAB28	9364	HP:0000613	Photophobia
OMIM:304020	RAB28	9364	HP:0000639	Nystagmus
OMIM:304020	RAB28	9364	HP:0007663	Reduced visual acuity
OMIM:304020	RAB28	9364	HP:0000505	Visual impairment
OMIM:304020	RAB28	9364	HP:0000545	Myopia
OMIM:304020	RAB28	9364	HP:0200056	Macular scarring
OMIM:304020	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	RPGR	6103	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	RPGR	6103	HP:0000613	Photophobia
OMIM:304020	RPGR	6103	HP:0000639	Nystagmus
OMIM:304020	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:304020	RPGR	6103	HP:0000505	Visual impairment
OMIM:304020	RPGR	6103	HP:0000545	Myopia
OMIM:304020	RPGR	6103	HP:0200056	Macular scarring
OMIM:304020	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	RIMS1	22999	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	RIMS1	22999	HP:0000613	Photophobia
OMIM:304020	RIMS1	22999	HP:0000639	Nystagmus
OMIM:304020	RIMS1	22999	HP:0007663	Reduced visual acuity
OMIM:304020	RIMS1	22999	HP:0000505	Visual impairment
OMIM:304020	RIMS1	22999	HP:0000545	Myopia
OMIM:304020	RIMS1	22999	HP:0200056	Macular scarring
OMIM:304020	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	ABCA4	24	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	ABCA4	24	HP:0000613	Photophobia
OMIM:304020	ABCA4	24	HP:0000639	Nystagmus
OMIM:304020	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:304020	ABCA4	24	HP:0000505	Visual impairment
OMIM:304020	ABCA4	24	HP:0000545	Myopia
OMIM:304020	ABCA4	24	HP:0200056	Macular scarring
OMIM:304020	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	SEMA4A	64218	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	SEMA4A	64218	HP:0000613	Photophobia
OMIM:304020	SEMA4A	64218	HP:0000639	Nystagmus
OMIM:304020	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:304020	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:304020	SEMA4A	64218	HP:0000545	Myopia
OMIM:304020	SEMA4A	64218	HP:0200056	Macular scarring
OMIM:304020	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	C8ORF37	157657	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	C8ORF37	157657	HP:0000613	Photophobia
OMIM:304020	C8ORF37	157657	HP:0000639	Nystagmus
OMIM:304020	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:304020	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:304020	C8ORF37	157657	HP:0000545	Myopia
OMIM:304020	C8ORF37	157657	HP:0200056	Macular scarring
OMIM:304020	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	OPN1MW	2652	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	OPN1MW	2652	HP:0000613	Photophobia
OMIM:304020	OPN1MW	2652	HP:0000639	Nystagmus
OMIM:304020	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:304020	OPN1MW	2652	HP:0000505	Visual impairment
OMIM:304020	OPN1MW	2652	HP:0000545	Myopia
OMIM:304020	OPN1MW	2652	HP:0200056	Macular scarring
OMIM:304020	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	GUCA1A	2978	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	GUCA1A	2978	HP:0000613	Photophobia
OMIM:304020	GUCA1A	2978	HP:0000639	Nystagmus
OMIM:304020	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:304020	GUCA1A	2978	HP:0000505	Visual impairment
OMIM:304020	GUCA1A	2978	HP:0000545	Myopia
OMIM:304020	GUCA1A	2978	HP:0200056	Macular scarring
OMIM:304020	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	RAX2	84839	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	RAX2	84839	HP:0000613	Photophobia
OMIM:304020	RAX2	84839	HP:0000639	Nystagmus
OMIM:304020	RAX2	84839	HP:0007663	Reduced visual acuity
OMIM:304020	RAX2	84839	HP:0000505	Visual impairment
OMIM:304020	RAX2	84839	HP:0000545	Myopia
OMIM:304020	RAX2	84839	HP:0200056	Macular scarring
OMIM:304020	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	CNGA3	1261	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	CNGA3	1261	HP:0000613	Photophobia
OMIM:304020	CNGA3	1261	HP:0000639	Nystagmus
OMIM:304020	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:304020	CNGA3	1261	HP:0000505	Visual impairment
OMIM:304020	CNGA3	1261	HP:0000545	Myopia
OMIM:304020	CNGA3	1261	HP:0200056	Macular scarring
OMIM:304020	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	ADAM9	8754	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	ADAM9	8754	HP:0000613	Photophobia
OMIM:304020	ADAM9	8754	HP:0000639	Nystagmus
OMIM:304020	ADAM9	8754	HP:0007663	Reduced visual acuity
OMIM:304020	ADAM9	8754	HP:0000505	Visual impairment
OMIM:304020	ADAM9	8754	HP:0000545	Myopia
OMIM:304020	ADAM9	8754	HP:0200056	Macular scarring
OMIM:304020	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	CDHR1	92211	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	CDHR1	92211	HP:0000613	Photophobia
OMIM:304020	CDHR1	92211	HP:0000639	Nystagmus
OMIM:304020	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:304020	CDHR1	92211	HP:0000505	Visual impairment
OMIM:304020	CDHR1	92211	HP:0000545	Myopia
OMIM:304020	CDHR1	92211	HP:0200056	Macular scarring
OMIM:304020	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	TTLL5	23093	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	TTLL5	23093	HP:0000613	Photophobia
OMIM:304020	TTLL5	23093	HP:0000639	Nystagmus
OMIM:304020	TTLL5	23093	HP:0007663	Reduced visual acuity
OMIM:304020	TTLL5	23093	HP:0000505	Visual impairment
OMIM:304020	TTLL5	23093	HP:0000545	Myopia
OMIM:304020	TTLL5	23093	HP:0200056	Macular scarring
OMIM:304020	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	GUCY2D	3000	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	GUCY2D	3000	HP:0000613	Photophobia
OMIM:304020	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:304020	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:304020	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:304020	GUCY2D	3000	HP:0000545	Myopia
OMIM:304020	GUCY2D	3000	HP:0200056	Macular scarring
OMIM:304020	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	POC1B	282809	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	POC1B	282809	HP:0000613	Photophobia
OMIM:304020	POC1B	282809	HP:0000639	Nystagmus
OMIM:304020	POC1B	282809	HP:0007663	Reduced visual acuity
OMIM:304020	POC1B	282809	HP:0000505	Visual impairment
OMIM:304020	POC1B	282809	HP:0000545	Myopia
OMIM:304020	POC1B	282809	HP:0200056	Macular scarring
OMIM:304020	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:304020	CRX	1406	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:304020	CRX	1406	HP:0000613	Photophobia
OMIM:304020	CRX	1406	HP:0000639	Nystagmus
OMIM:304020	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:304020	CRX	1406	HP:0000505	Visual impairment
OMIM:304020	CRX	1406	HP:0000545	Myopia
OMIM:304020	CRX	1406	HP:0200056	Macular scarring
OMIM:304020	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:614065	FLNC	2318	HP:0003677	Slow progression
OMIM:614065	FLNC	2318	HP:0008944	Distal lower limb amyotrophy
OMIM:614065	FLNC	2318	HP:0000006	Autosomal dominant inheritance
OMIM:614065	FLNC	2318	HP:0001265	Hyporeflexia
OMIM:614065	FLNC	2318	HP:0001324	Muscle weakness
OMIM:614065	FLNC	2318	HP:0003198	Myopathy
OMIM:614065	FLNC	2318	HP:0001430	Abnormality of the calf musculature
OMIM:614065	FLNC	2318	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:614065	FLNC	2318	HP:0007149	Distal upper limb amyotrophy
OMIM:615995	BBIP1	92482	HP:0100543	Cognitive impairment
OMIM:615995	BBIP1	92482	HP:0000518	Cataract
OMIM:615995	BBIP1	92482	HP:0000083	Renal insufficiency
OMIM:615995	BBIP1	92482	HP:0001513	Obesity
OMIM:615995	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615995	BBIP1	92482	HP:0001156	Brachydactyly syndrome
OMIM:615995	MKKS	8195	HP:0100543	Cognitive impairment
OMIM:615995	MKKS	8195	HP:0000518	Cataract
OMIM:615995	MKKS	8195	HP:0000083	Renal insufficiency
OMIM:615995	MKKS	8195	HP:0001513	Obesity
OMIM:615995	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615995	MKKS	8195	HP:0001156	Brachydactyly syndrome
OMIM:615995	NPHP1	4867	HP:0100543	Cognitive impairment
OMIM:615995	NPHP1	4867	HP:0000518	Cataract
OMIM:615995	NPHP1	4867	HP:0000083	Renal insufficiency
OMIM:615995	NPHP1	4867	HP:0001513	Obesity
OMIM:615995	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615995	NPHP1	4867	HP:0001156	Brachydactyly syndrome
OMIM:615995	ARL6	84100	HP:0100543	Cognitive impairment
OMIM:615995	ARL6	84100	HP:0000518	Cataract
OMIM:615995	ARL6	84100	HP:0000083	Renal insufficiency
OMIM:615995	ARL6	84100	HP:0001513	Obesity
OMIM:615995	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615995	ARL6	84100	HP:0001156	Brachydactyly syndrome
OMIM:615995	BBS1	582	HP:0100543	Cognitive impairment
OMIM:615995	BBS1	582	HP:0000518	Cataract
OMIM:615995	BBS1	582	HP:0000083	Renal insufficiency
OMIM:615995	BBS1	582	HP:0001513	Obesity
OMIM:615995	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615995	BBS1	582	HP:0001156	Brachydactyly syndrome
OMIM:615995	BBS2	583	HP:0100543	Cognitive impairment
OMIM:615995	BBS2	583	HP:0000518	Cataract
OMIM:615995	BBS2	583	HP:0000083	Renal insufficiency
OMIM:615995	BBS2	583	HP:0001513	Obesity
OMIM:615995	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615995	BBS2	583	HP:0001156	Brachydactyly syndrome
OMIM:615995	BBS4	585	HP:0100543	Cognitive impairment
OMIM:615995	BBS4	585	HP:0000518	Cataract
OMIM:615995	BBS4	585	HP:0000083	Renal insufficiency
OMIM:615995	BBS4	585	HP:0001513	Obesity
OMIM:615995	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615995	BBS4	585	HP:0001156	Brachydactyly syndrome
OMIM:615995	BBS9	27241	HP:0100543	Cognitive impairment
OMIM:615995	BBS9	27241	HP:0000518	Cataract
OMIM:615995	BBS9	27241	HP:0000083	Renal insufficiency
OMIM:615995	BBS9	27241	HP:0001513	Obesity
OMIM:615995	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615995	BBS9	27241	HP:0001156	Brachydactyly syndrome
OMIM:615995	TTC8	123016	HP:0100543	Cognitive impairment
OMIM:615995	TTC8	123016	HP:0000518	Cataract
OMIM:615995	TTC8	123016	HP:0000083	Renal insufficiency
OMIM:615995	TTC8	123016	HP:0001513	Obesity
OMIM:615995	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615995	TTC8	123016	HP:0001156	Brachydactyly syndrome
OMIM:615995	BBS12	166379	HP:0100543	Cognitive impairment
OMIM:615995	BBS12	166379	HP:0000518	Cataract
OMIM:615995	BBS12	166379	HP:0000083	Renal insufficiency
OMIM:615995	BBS12	166379	HP:0001513	Obesity
OMIM:615995	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615995	BBS12	166379	HP:0001156	Brachydactyly syndrome
OMIM:615995	TRIM32	22954	HP:0100543	Cognitive impairment
OMIM:615995	TRIM32	22954	HP:0000518	Cataract
OMIM:615995	TRIM32	22954	HP:0000083	Renal insufficiency
OMIM:615995	TRIM32	22954	HP:0001513	Obesity
OMIM:615995	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615995	TRIM32	22954	HP:0001156	Brachydactyly syndrome
OMIM:615995	BBS7	55212	HP:0100543	Cognitive impairment
OMIM:615995	BBS7	55212	HP:0000518	Cataract
OMIM:615995	BBS7	55212	HP:0000083	Renal insufficiency
OMIM:615995	BBS7	55212	HP:0001513	Obesity
OMIM:615995	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615995	BBS7	55212	HP:0001156	Brachydactyly syndrome
OMIM:615995	IFT27	11020	HP:0100543	Cognitive impairment
OMIM:615995	IFT27	11020	HP:0000518	Cataract
OMIM:615995	IFT27	11020	HP:0000083	Renal insufficiency
OMIM:615995	IFT27	11020	HP:0001513	Obesity
OMIM:615995	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615995	IFT27	11020	HP:0001156	Brachydactyly syndrome
OMIM:615995	IFT172	26160	HP:0100543	Cognitive impairment
OMIM:615995	IFT172	26160	HP:0000518	Cataract
OMIM:615995	IFT172	26160	HP:0000083	Renal insufficiency
OMIM:615995	IFT172	26160	HP:0001513	Obesity
OMIM:615995	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615995	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:615995	WDPCP	51057	HP:0100543	Cognitive impairment
OMIM:615995	WDPCP	51057	HP:0000518	Cataract
OMIM:615995	WDPCP	51057	HP:0000083	Renal insufficiency
OMIM:615995	WDPCP	51057	HP:0001513	Obesity
OMIM:615995	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615995	WDPCP	51057	HP:0001156	Brachydactyly syndrome
OMIM:615995	SDCCAG8	10806	HP:0100543	Cognitive impairment
OMIM:615995	SDCCAG8	10806	HP:0000518	Cataract
OMIM:615995	SDCCAG8	10806	HP:0000083	Renal insufficiency
OMIM:615995	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615995	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615995	SDCCAG8	10806	HP:0001156	Brachydactyly syndrome
OMIM:615995	MKS1	54903	HP:0100543	Cognitive impairment
OMIM:615995	MKS1	54903	HP:0000518	Cataract
OMIM:615995	MKS1	54903	HP:0000083	Renal insufficiency
OMIM:615995	MKS1	54903	HP:0001513	Obesity
OMIM:615995	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615995	MKS1	54903	HP:0001156	Brachydactyly syndrome
OMIM:615995	BBS5	129880	HP:0100543	Cognitive impairment
OMIM:615995	BBS5	129880	HP:0000518	Cataract
OMIM:615995	BBS5	129880	HP:0000083	Renal insufficiency
OMIM:615995	BBS5	129880	HP:0001513	Obesity
OMIM:615995	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615995	BBS5	129880	HP:0001156	Brachydactyly syndrome
OMIM:615995	CEP290	80184	HP:0100543	Cognitive impairment
OMIM:615995	CEP290	80184	HP:0000518	Cataract
OMIM:615995	CEP290	80184	HP:0000083	Renal insufficiency
OMIM:615995	CEP290	80184	HP:0001513	Obesity
OMIM:615995	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615995	CEP290	80184	HP:0001156	Brachydactyly syndrome
OMIM:615995	LZTFL1	54585	HP:0100543	Cognitive impairment
OMIM:615995	LZTFL1	54585	HP:0000518	Cataract
OMIM:615995	LZTFL1	54585	HP:0000083	Renal insufficiency
OMIM:615995	LZTFL1	54585	HP:0001513	Obesity
OMIM:615995	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615995	LZTFL1	54585	HP:0001156	Brachydactyly syndrome
OMIM:615995	BBS10	79738	HP:0100543	Cognitive impairment
OMIM:615995	BBS10	79738	HP:0000518	Cataract
OMIM:615995	BBS10	79738	HP:0000083	Renal insufficiency
OMIM:615995	BBS10	79738	HP:0001513	Obesity
OMIM:615995	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615995	BBS10	79738	HP:0001156	Brachydactyly syndrome
OMIM:613163	ABAT	18	HP:0001254	Lethargy
OMIM:613163	ABAT	18	HP:0002415	Leukodystrophy
OMIM:613163	ABAT	18	HP:0001250	Seizures
OMIM:613163	ABAT	18	HP:0003819	Death in childhood
OMIM:613163	ABAT	18	HP:0000494	Downslanted palpebral fissures
OMIM:613163	ABAT	18	HP:0000278	Retrognathia
OMIM:613163	ABAT	18	HP:0001263	Global developmental delay
OMIM:613163	ABAT	18	HP:0001274	Agenesis of corpus callosum
OMIM:613163	ABAT	18	HP:0001347	Hyperreflexia
OMIM:613163	ABAT	18	HP:0006829	Severe muscular hypotonia
OMIM:613163	ABAT	18	HP:0000098	Tall stature
OMIM:613163	ABAT	18	HP:0007291	Posterior fossa cyst
OMIM:613163	ABAT	18	HP:0001321	Cerebellar hypoplasia
OMIM:613163	ABAT	18	HP:0000007	Autosomal recessive inheritance
OMIM:255125	ISCU	23479	HP:0001962	Palpitations
OMIM:255125	ISCU	23479	HP:0003128	Lactic acidosis
OMIM:255125	ISCU	23479	HP:0003201	Rhabdomyolysis
OMIM:255125	ISCU	23479	HP:0001324	Muscle weakness
OMIM:255125	ISCU	23479	HP:0002151	Increased serum lactate
OMIM:255125	ISCU	23479	HP:0002094	Dyspnea
OMIM:255125	ISCU	23479	HP:0002913	Myoglobinuria
OMIM:255125	ISCU	23479	HP:0003621	Juvenile onset
OMIM:255125	ISCU	23479	HP:0003236	Elevated serum creatine phosphokinase
OMIM:255125	ISCU	23479	HP:0003546	Exercise intolerance
OMIM:255125	ISCU	23479	HP:0000007	Autosomal recessive inheritance
OMIM:255125	ISCU	23479	HP:0003198	Myopathy
OMIM:255125	ISCU	23479	HP:0003394	Muscle cramps
OMIM:260500	TP53	7157	HP:0001276	Hypertonia
OMIM:260500	TP53	7157	HP:0004375	Neoplasm of the nervous system
OMIM:260500	TP53	7157	HP:0000238	Hydrocephalus
OMIM:260500	TP53	7157	HP:0000007	Autosomal recessive inheritance
OMIM:260500	TP53	7157	HP:0004374	Hemiplegia/hemiparesis
OMIM:260500	TP53	7157	HP:0001250	Seizures
OMIM:260500	TP53	7157	HP:0000505	Visual impairment
OMIM:260500	TP53	7157	HP:0100543	Cognitive impairment
OMIM:131705	COL7A1	1294	HP:0001075	Atrophic scars
OMIM:131705	COL7A1	1294	HP:0000963	Thin skin
OMIM:131705	COL7A1	1294	HP:0008404	Nail dystrophy
OMIM:131705	COL7A1	1294	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:131705	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
OMIM:131705	COL7A1	1294	HP:0003577	Congenital onset
OMIM:131705	COL7A1	1294	HP:0000007	Autosomal recessive inheritance
OMIM:131705	COL7A1	1294	HP:0001030	Fragile skin
OMIM:131705	COL7A1	1294	HP:0001053	Hypopigmented skin patches
OMIM:603387	PIK3R2	5296	HP:0002187	Intellectual disability, profound
OMIM:603387	PIK3R2	5296	HP:0002079	Hypoplasia of the corpus callosum
OMIM:603387	PIK3R2	5296	HP:0000006	Autosomal dominant inheritance
OMIM:603387	PIK3R2	5296	HP:0008936	Muscular hypotonia of the trunk
OMIM:603387	PIK3R2	5296	HP:0001090	Large eyes
OMIM:603387	PIK3R2	5296	HP:0002808	Kyphosis
OMIM:603387	PIK3R2	5296	HP:0000238	Hydrocephalus
OMIM:603387	PIK3R2	5296	HP:0001263	Global developmental delay
OMIM:603387	PIK3R2	5296	HP:0001250	Seizures
OMIM:603387	PIK3R2	5296	HP:0000508	Ptosis
OMIM:603387	PIK3R2	5296	HP:0001631	Atria septal defect
OMIM:603387	PIK3R2	5296	HP:0003202	Skeletal muscle atrophy
OMIM:603387	PIK3R2	5296	HP:0006380	Knee flexion contracture
OMIM:603387	PIK3R2	5296	HP:0000618	Blindness
OMIM:603387	PIK3R2	5296	HP:0002126	Polymicrogyria
OMIM:603387	PIK3R2	5296	HP:0001302	Pachygyria
OMIM:603387	PIK3R2	5296	HP:0100259	Postaxial polydactyly
OMIM:603387	PIK3R2	5296	HP:0001629	Ventricular septal defect
OMIM:603387	PIK3R2	5296	HP:0001653	Mitral regurgitation
OMIM:603387	PIK3R2	5296	HP:0000256	Macrocephaly
OMIM:603387	PIK3R2	5296	HP:0002007	Frontal bossing
OMIM:603387	PIK3R2	5296	HP:0002943	Thoracic scoliosis
OMIM:603387	AKT3	10000	HP:0002187	Intellectual disability, profound
OMIM:603387	AKT3	10000	HP:0002079	Hypoplasia of the corpus callosum
OMIM:603387	AKT3	10000	HP:0000006	Autosomal dominant inheritance
OMIM:603387	AKT3	10000	HP:0008936	Muscular hypotonia of the trunk
OMIM:603387	AKT3	10000	HP:0001090	Large eyes
OMIM:603387	AKT3	10000	HP:0002808	Kyphosis
OMIM:603387	AKT3	10000	HP:0000238	Hydrocephalus
OMIM:603387	AKT3	10000	HP:0001263	Global developmental delay
OMIM:603387	AKT3	10000	HP:0001250	Seizures
OMIM:603387	AKT3	10000	HP:0000508	Ptosis
OMIM:603387	AKT3	10000	HP:0001631	Atria septal defect
OMIM:603387	AKT3	10000	HP:0003202	Skeletal muscle atrophy
OMIM:603387	AKT3	10000	HP:0006380	Knee flexion contracture
OMIM:603387	AKT3	10000	HP:0000618	Blindness
OMIM:603387	AKT3	10000	HP:0002126	Polymicrogyria
OMIM:603387	AKT3	10000	HP:0001302	Pachygyria
OMIM:603387	AKT3	10000	HP:0100259	Postaxial polydactyly
OMIM:603387	AKT3	10000	HP:0001629	Ventricular septal defect
OMIM:603387	AKT3	10000	HP:0001653	Mitral regurgitation
OMIM:603387	AKT3	10000	HP:0000256	Macrocephaly
OMIM:603387	AKT3	10000	HP:0002007	Frontal bossing
OMIM:603387	AKT3	10000	HP:0002943	Thoracic scoliosis
OMIM:603387	CCND2	894	HP:0002187	Intellectual disability, profound
OMIM:603387	CCND2	894	HP:0002079	Hypoplasia of the corpus callosum
OMIM:603387	CCND2	894	HP:0000006	Autosomal dominant inheritance
OMIM:603387	CCND2	894	HP:0008936	Muscular hypotonia of the trunk
OMIM:603387	CCND2	894	HP:0001090	Large eyes
OMIM:603387	CCND2	894	HP:0002808	Kyphosis
OMIM:603387	CCND2	894	HP:0000238	Hydrocephalus
OMIM:603387	CCND2	894	HP:0001263	Global developmental delay
OMIM:603387	CCND2	894	HP:0001250	Seizures
OMIM:603387	CCND2	894	HP:0000508	Ptosis
OMIM:603387	CCND2	894	HP:0001631	Atria septal defect
OMIM:603387	CCND2	894	HP:0003202	Skeletal muscle atrophy
OMIM:603387	CCND2	894	HP:0006380	Knee flexion contracture
OMIM:603387	CCND2	894	HP:0000618	Blindness
OMIM:603387	CCND2	894	HP:0002126	Polymicrogyria
OMIM:603387	CCND2	894	HP:0001302	Pachygyria
OMIM:603387	CCND2	894	HP:0100259	Postaxial polydactyly
OMIM:603387	CCND2	894	HP:0001629	Ventricular septal defect
OMIM:603387	CCND2	894	HP:0001653	Mitral regurgitation
OMIM:603387	CCND2	894	HP:0000256	Macrocephaly
OMIM:603387	CCND2	894	HP:0002007	Frontal bossing
OMIM:603387	CCND2	894	HP:0002943	Thoracic scoliosis
OMIM:223800	DYM	54808	HP:0010049	Short metacarpal
OMIM:223800	DYM	54808	HP:0000280	Coarse facial features
OMIM:223800	DYM	54808	HP:0001498	Carpal bone hypoplasia
OMIM:223800	DYM	54808	HP:0000303	Mandibular prognathia
OMIM:223800	DYM	54808	HP:0012385	Camptodactyly
OMIM:223800	DYM	54808	HP:0001552	Barrel-shaped chest
OMIM:223800	DYM	54808	HP:0008897	Postnatal growth retardation
OMIM:223800	DYM	54808	HP:0002857	Genu valgum
OMIM:223800	DYM	54808	HP:0002938	Lumbar hyperlordosis
OMIM:223800	DYM	54808	HP:0000007	Autosomal recessive inheritance
OMIM:223800	DYM	54808	HP:0010743	Short metatarsal
OMIM:223800	DYM	54808	HP:0000920	Enlargement of the costochondral junction
OMIM:223800	DYM	54808	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:223800	DYM	54808	HP:0003375	Narrow greater sacrosciatic notches
OMIM:223800	DYM	54808	HP:0003311	Hypoplasia of the odontoid process
OMIM:223800	DYM	54808	HP:0002650	Scoliosis
OMIM:223800	DYM	54808	HP:0000470	Short neck
OMIM:223800	DYM	54808	HP:0000926	Platyspondyly
OMIM:223800	DYM	54808	HP:0003521	Disproportionate short-trunk short stature
OMIM:223800	DYM	54808	HP:0011344	Severe global developmental delay
OMIM:223800	DYM	54808	HP:0000882	Hypoplastic scapulae
OMIM:223800	DYM	54808	HP:0002515	Waddling gait
OMIM:223800	DYM	54808	HP:0000914	Shield chest
OMIM:223800	DYM	54808	HP:0000252	Microcephaly
OMIM:223800	DYM	54808	HP:0002692	Hypoplastic facial bones
OMIM:223800	DYM	54808	HP:0008905	Rhizomelia
OMIM:223800	DYM	54808	HP:0002684	Thickened calvaria
OMIM:601316	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:601316	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:601316	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:601316	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:601316	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:601316	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:601316	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:601316	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:601316	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:601316	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:601316	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601316	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:601316	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:601316	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:601316	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:601316	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:601316	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:601316	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:601316	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:601316	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:601316	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:601316	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:601316	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:601316	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:601316	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:601316	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:601316	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:601316	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:601316	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:601316	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:601316	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:601316	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:601316	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:601316	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:601316	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:601316	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:601316	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:601316	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:601316	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:601316	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:601316	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:601316	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:601316	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:601316	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:601316	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:601316	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:601316	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:601316	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:601316	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:601316	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:601316	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:601316	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:601316	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:601316	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:601316	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:601316	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:601316	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:601316	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:601316	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:601316	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:601316	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:601316	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:601316	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:601316	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:601316	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:601316	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:601316	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:601316	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:601316	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:601316	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:228600	ANTXR2	118429	HP:0000007	Autosomal recessive inheritance
OMIM:228600	ANTXR2	118429	HP:0002797	Osteolysis
OMIM:228600	ANTXR2	118429	HP:0003676	Progressive
OMIM:228600	ANTXR2	118429	HP:0005876	Progressive flexion contractures
OMIM:228600	ANTXR2	118429	HP:0000212	Gingival overgrowth
OMIM:228600	ANTXR2	118429	HP:0000939	Osteoporosis
OMIM:228600	ANTXR2	118429	HP:0000940	Abnormal diaphysis morphology
OMIM:228600	ANTXR2	118429	HP:0200042	Skin ulcer
OMIM:228600	ANTXR2	118429	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:228600	ANTXR2	118429	HP:0011024	Abnormality of the gastrointestinal tract
OMIM:228600	ANTXR2	118429	HP:0000929	Abnormality of the skull
OMIM:228600	ANTXR2	118429	HP:0000169	Gingival fibromatosis
OMIM:228600	ANTXR2	118429	HP:0000938	Osteopenia
OMIM:228600	ANTXR2	118429	HP:0003828	Variable expressivity
OMIM:228600	ANTXR2	118429	HP:0001482	Subcutaneous nodule
OMIM:228600	ANTXR2	118429	HP:0003202	Skeletal muscle atrophy
OMIM:228600	ANTXR2	118429	HP:0001371	Flexion contracture
OMIM:228600	ANTXR2	118429	HP:0000280	Coarse facial features
OMIM:228600	ANTXR2	118429	HP:0001376	Limitation of joint mobility
OMIM:233300	NR5A1	2516	HP:0000133	Gonadal dysgenesis
OMIM:233300	NR5A1	2516	HP:0000007	Autosomal recessive inheritance
OMIM:233300	NR5A1	2516	HP:0000786	Primary amenorrhea
OMIM:233300	NR5A1	2516	HP:0000939	Osteoporosis
OMIM:233300	PSMC3IP	29893	HP:0000133	Gonadal dysgenesis
OMIM:233300	PSMC3IP	29893	HP:0000007	Autosomal recessive inheritance
OMIM:233300	PSMC3IP	29893	HP:0000786	Primary amenorrhea
OMIM:233300	PSMC3IP	29893	HP:0000939	Osteoporosis
OMIM:233300	BMP15	9210	HP:0000133	Gonadal dysgenesis
OMIM:233300	BMP15	9210	HP:0000007	Autosomal recessive inheritance
OMIM:233300	BMP15	9210	HP:0000786	Primary amenorrhea
OMIM:233300	BMP15	9210	HP:0000939	Osteoporosis
OMIM:233300	FSHR	2492	HP:0000133	Gonadal dysgenesis
OMIM:233300	FSHR	2492	HP:0000007	Autosomal recessive inheritance
OMIM:233300	FSHR	2492	HP:0000786	Primary amenorrhea
OMIM:233300	FSHR	2492	HP:0000939	Osteoporosis
OMIM:615728	KRT17	3872	HP:0000006	Autosomal dominant inheritance
OMIM:615728	KRT17	3872	HP:0000982	Palmoplantar keratoderma
OMIM:615728	KRT17	3872	HP:0008404	Nail dystrophy
OMIM:615728	KRT16	3868	HP:0000006	Autosomal dominant inheritance
OMIM:615728	KRT16	3868	HP:0000982	Palmoplantar keratoderma
OMIM:615728	KRT16	3868	HP:0008404	Nail dystrophy
OMIM:615728	KRT6A	3853	HP:0000006	Autosomal dominant inheritance
OMIM:615728	KRT6A	3853	HP:0000982	Palmoplantar keratoderma
OMIM:615728	KRT6A	3853	HP:0008404	Nail dystrophy
OMIM:615728	KRT6B	3854	HP:0000006	Autosomal dominant inheritance
OMIM:615728	KRT6B	3854	HP:0000982	Palmoplantar keratoderma
OMIM:615728	KRT6B	3854	HP:0008404	Nail dystrophy
OMIM:604173	USB1	79650	HP:0000403	Recurrent otitis media
OMIM:604173	USB1	79650	HP:0000498	Blepharitis
OMIM:604173	USB1	79650	HP:0004322	Short stature
OMIM:604173	USB1	79650	HP:0000007	Autosomal recessive inheritance
OMIM:604173	USB1	79650	HP:0001875	Neutropenia
OMIM:604173	USB1	79650	HP:0006532	Recurrent pneumonia
OMIM:604173	USB1	79650	HP:0000316	Hypertelorism
OMIM:604173	USB1	79650	HP:0000509	Conjunctivitis
OMIM:604173	USB1	79650	HP:0011800	Hypoplasia of midface
OMIM:604173	USB1	79650	HP:0000272	Malar flattening
OMIM:604173	USB1	79650	HP:0001744	Splenomegaly
OMIM:613792	CHL1	10752	HP:0000581	Blepharophimosis
OMIM:613792	CHL1	10752	HP:0000233	Thin vermilion border
OMIM:613792	CHL1	10752	HP:0000508	Ptosis
OMIM:613792	CHL1	10752	HP:0011968	Feeding difficulties
OMIM:613792	CHL1	10752	HP:0000960	Sacral dimple
OMIM:613792	CHL1	10752	HP:0001250	Seizures
OMIM:613792	CHL1	10752	HP:0000582	Upslanted palpebral fissure
OMIM:613792	CHL1	10752	HP:0002119	Ventriculomegaly
OMIM:613792	CHL1	10752	HP:0000426	Prominent nasal bridge
OMIM:613792	CHL1	10752	HP:0005469	Flat occiput
OMIM:613792	CHL1	10752	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613792	CHL1	10752	HP:0000365	Hearing impairment
OMIM:613792	CHL1	10752	HP:0100543	Cognitive impairment
OMIM:613792	CHL1	10752	HP:0004322	Short stature
OMIM:613792	CHL1	10752	HP:0001162	Postaxial hand polydactyly
OMIM:613792	CHL1	10752	HP:0001104	Macular hypoplasia
OMIM:613792	CHL1	10752	HP:0006695	Atrioventricular canal defect
OMIM:613792	CHL1	10752	HP:0000664	Synophrys
OMIM:613792	CHL1	10752	HP:0004209	Clinodactyly of the 5th finger
OMIM:613792	CHL1	10752	HP:0000248	Brachycephaly
OMIM:613792	CHL1	10752	HP:0000369	Low-set ears
OMIM:613792	CHL1	10752	HP:0000347	Micrognathia
OMIM:613792	CHL1	10752	HP:0000506	Telecanthus
OMIM:613792	CHL1	10752	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613792	CHL1	10752	HP:0001276	Hypertonia
OMIM:613792	CHL1	10752	HP:0000218	High palate
OMIM:613792	CHL1	10752	HP:0000343	Long philtrum
OMIM:613792	CHL1	10752	HP:0001674	Complete atrioventricular canal defect
OMIM:613792	CHL1	10752	HP:0000629	Periorbital fullness
OMIM:613792	CHL1	10752	HP:0001257	Spasticity
OMIM:613792	CHL1	10752	HP:0000175	Cleft palate
OMIM:613792	CHL1	10752	HP:0001511	Intrauterine growth retardation
OMIM:613792	CHL1	10752	HP:0004467	Preauricular pit
OMIM:613792	CHL1	10752	HP:0000470	Short neck
OMIM:613792	CHL1	10752	HP:0000252	Microcephaly
OMIM:613792	CHL1	10752	HP:0002648	Abnormality of calvarial morphology
OMIM:613792	CHL1	10752	HP:0000243	Trigonocephaly
OMIM:613792	CHL1	10752	HP:0000316	Hypertelorism
OMIM:613792	CHL1	10752	HP:0000383	Abnormality of periauricular region
OMIM:613792	CHL1	10752	HP:0002714	Downturned corners of mouth
OMIM:613792	CHL1	10752	HP:0000325	Triangular face
OMIM:613792	CHL1	10752	HP:0000028	Cryptorchidism
OMIM:613792	CHL1	10752	HP:0000286	Epicanthus
OMIM:613792	CHL1	10752	HP:0001252	Muscular hypotonia
OMIM:613792	CHL1	10752	HP:0005280	Depressed nasal bridge
OMIM:613792	CHL1	10752	HP:0001537	Umbilical hernia
OMIM:613792	CHL1	10752	HP:0012210	Abnormal renal morphology
OMIM:613792	CHL1	10752	HP:0000278	Retrognathia
OMIM:613792	CHL1	10752	HP:0000006	Autosomal dominant inheritance
OMIM:613792	CHL1	10752	HP:0008897	Postnatal growth retardation
OMIM:613792	CHL1	10752	HP:0000463	Anteverted nares
OMIM:613792	CHL1	10752	HP:0100259	Postaxial polydactyly
OMIM:613792	CRBN	51185	HP:0000581	Blepharophimosis
OMIM:613792	CRBN	51185	HP:0000233	Thin vermilion border
OMIM:613792	CRBN	51185	HP:0000508	Ptosis
OMIM:613792	CRBN	51185	HP:0011968	Feeding difficulties
OMIM:613792	CRBN	51185	HP:0000960	Sacral dimple
OMIM:613792	CRBN	51185	HP:0001250	Seizures
OMIM:613792	CRBN	51185	HP:0000582	Upslanted palpebral fissure
OMIM:613792	CRBN	51185	HP:0002119	Ventriculomegaly
OMIM:613792	CRBN	51185	HP:0000426	Prominent nasal bridge
OMIM:613792	CRBN	51185	HP:0005469	Flat occiput
OMIM:613792	CRBN	51185	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613792	CRBN	51185	HP:0000365	Hearing impairment
OMIM:613792	CRBN	51185	HP:0100543	Cognitive impairment
OMIM:613792	CRBN	51185	HP:0004322	Short stature
OMIM:613792	CRBN	51185	HP:0001162	Postaxial hand polydactyly
OMIM:613792	CRBN	51185	HP:0001104	Macular hypoplasia
OMIM:613792	CRBN	51185	HP:0006695	Atrioventricular canal defect
OMIM:613792	CRBN	51185	HP:0000664	Synophrys
OMIM:613792	CRBN	51185	HP:0004209	Clinodactyly of the 5th finger
OMIM:613792	CRBN	51185	HP:0000248	Brachycephaly
OMIM:613792	CRBN	51185	HP:0000369	Low-set ears
OMIM:613792	CRBN	51185	HP:0000347	Micrognathia
OMIM:613792	CRBN	51185	HP:0000506	Telecanthus
OMIM:613792	CRBN	51185	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613792	CRBN	51185	HP:0001276	Hypertonia
OMIM:613792	CRBN	51185	HP:0000218	High palate
OMIM:613792	CRBN	51185	HP:0000343	Long philtrum
OMIM:613792	CRBN	51185	HP:0001674	Complete atrioventricular canal defect
OMIM:613792	CRBN	51185	HP:0000629	Periorbital fullness
OMIM:613792	CRBN	51185	HP:0001257	Spasticity
OMIM:613792	CRBN	51185	HP:0000175	Cleft palate
OMIM:613792	CRBN	51185	HP:0001511	Intrauterine growth retardation
OMIM:613792	CRBN	51185	HP:0004467	Preauricular pit
OMIM:613792	CRBN	51185	HP:0000470	Short neck
OMIM:613792	CRBN	51185	HP:0000252	Microcephaly
OMIM:613792	CRBN	51185	HP:0002648	Abnormality of calvarial morphology
OMIM:613792	CRBN	51185	HP:0000243	Trigonocephaly
OMIM:613792	CRBN	51185	HP:0000316	Hypertelorism
OMIM:613792	CRBN	51185	HP:0000383	Abnormality of periauricular region
OMIM:613792	CRBN	51185	HP:0002714	Downturned corners of mouth
OMIM:613792	CRBN	51185	HP:0000325	Triangular face
OMIM:613792	CRBN	51185	HP:0000028	Cryptorchidism
OMIM:613792	CRBN	51185	HP:0000286	Epicanthus
OMIM:613792	CRBN	51185	HP:0001252	Muscular hypotonia
OMIM:613792	CRBN	51185	HP:0005280	Depressed nasal bridge
OMIM:613792	CRBN	51185	HP:0001537	Umbilical hernia
OMIM:613792	CRBN	51185	HP:0012210	Abnormal renal morphology
OMIM:613792	CRBN	51185	HP:0000278	Retrognathia
OMIM:613792	CRBN	51185	HP:0000006	Autosomal dominant inheritance
OMIM:613792	CRBN	51185	HP:0008897	Postnatal growth retardation
OMIM:613792	CRBN	51185	HP:0000463	Anteverted nares
OMIM:613792	CRBN	51185	HP:0100259	Postaxial polydactyly
OMIM:613792	CNTN4	152330	HP:0000581	Blepharophimosis
OMIM:613792	CNTN4	152330	HP:0000233	Thin vermilion border
OMIM:613792	CNTN4	152330	HP:0000508	Ptosis
OMIM:613792	CNTN4	152330	HP:0011968	Feeding difficulties
OMIM:613792	CNTN4	152330	HP:0000960	Sacral dimple
OMIM:613792	CNTN4	152330	HP:0001250	Seizures
OMIM:613792	CNTN4	152330	HP:0000582	Upslanted palpebral fissure
OMIM:613792	CNTN4	152330	HP:0002119	Ventriculomegaly
OMIM:613792	CNTN4	152330	HP:0000426	Prominent nasal bridge
OMIM:613792	CNTN4	152330	HP:0005469	Flat occiput
OMIM:613792	CNTN4	152330	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613792	CNTN4	152330	HP:0000365	Hearing impairment
OMIM:613792	CNTN4	152330	HP:0100543	Cognitive impairment
OMIM:613792	CNTN4	152330	HP:0004322	Short stature
OMIM:613792	CNTN4	152330	HP:0001162	Postaxial hand polydactyly
OMIM:613792	CNTN4	152330	HP:0001104	Macular hypoplasia
OMIM:613792	CNTN4	152330	HP:0006695	Atrioventricular canal defect
OMIM:613792	CNTN4	152330	HP:0000664	Synophrys
OMIM:613792	CNTN4	152330	HP:0004209	Clinodactyly of the 5th finger
OMIM:613792	CNTN4	152330	HP:0000248	Brachycephaly
OMIM:613792	CNTN4	152330	HP:0000369	Low-set ears
OMIM:613792	CNTN4	152330	HP:0000347	Micrognathia
OMIM:613792	CNTN4	152330	HP:0000506	Telecanthus
OMIM:613792	CNTN4	152330	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613792	CNTN4	152330	HP:0001276	Hypertonia
OMIM:613792	CNTN4	152330	HP:0000218	High palate
OMIM:613792	CNTN4	152330	HP:0000343	Long philtrum
OMIM:613792	CNTN4	152330	HP:0001674	Complete atrioventricular canal defect
OMIM:613792	CNTN4	152330	HP:0000629	Periorbital fullness
OMIM:613792	CNTN4	152330	HP:0001257	Spasticity
OMIM:613792	CNTN4	152330	HP:0000175	Cleft palate
OMIM:613792	CNTN4	152330	HP:0001511	Intrauterine growth retardation
OMIM:613792	CNTN4	152330	HP:0004467	Preauricular pit
OMIM:613792	CNTN4	152330	HP:0000470	Short neck
OMIM:613792	CNTN4	152330	HP:0000252	Microcephaly
OMIM:613792	CNTN4	152330	HP:0002648	Abnormality of calvarial morphology
OMIM:613792	CNTN4	152330	HP:0000243	Trigonocephaly
OMIM:613792	CNTN4	152330	HP:0000316	Hypertelorism
OMIM:613792	CNTN4	152330	HP:0000383	Abnormality of periauricular region
OMIM:613792	CNTN4	152330	HP:0002714	Downturned corners of mouth
OMIM:613792	CNTN4	152330	HP:0000325	Triangular face
OMIM:613792	CNTN4	152330	HP:0000028	Cryptorchidism
OMIM:613792	CNTN4	152330	HP:0000286	Epicanthus
OMIM:613792	CNTN4	152330	HP:0001252	Muscular hypotonia
OMIM:613792	CNTN4	152330	HP:0005280	Depressed nasal bridge
OMIM:613792	CNTN4	152330	HP:0001537	Umbilical hernia
OMIM:613792	CNTN4	152330	HP:0012210	Abnormal renal morphology
OMIM:613792	CNTN4	152330	HP:0000278	Retrognathia
OMIM:613792	CNTN4	152330	HP:0000006	Autosomal dominant inheritance
OMIM:613792	CNTN4	152330	HP:0008897	Postnatal growth retardation
OMIM:613792	CNTN4	152330	HP:0000463	Anteverted nares
OMIM:613792	CNTN4	152330	HP:0100259	Postaxial polydactyly
OMIM:612999	LMNA	4000	HP:0003812	Phenotypic variability
OMIM:612999	LMNA	4000	HP:0007126	Proximal amyotrophy
OMIM:612999	LMNA	4000	HP:0002093	Respiratory insufficiency
OMIM:612999	LMNA	4000	HP:0001638	Cardiomyopathy
OMIM:612999	LMNA	4000	HP:0011463	Childhood onset
OMIM:612999	LMNA	4000	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612999	LMNA	4000	HP:0003701	Proximal muscle weakness
OMIM:612999	LMNA	4000	HP:0003560	Muscular dystrophy
OMIM:612999	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:612999	LMNA	4000	HP:0011675	Arrhythmia
OMIM:612999	SYNE1	23345	HP:0003812	Phenotypic variability
OMIM:612999	SYNE1	23345	HP:0007126	Proximal amyotrophy
OMIM:612999	SYNE1	23345	HP:0002093	Respiratory insufficiency
OMIM:612999	SYNE1	23345	HP:0001638	Cardiomyopathy
OMIM:612999	SYNE1	23345	HP:0011463	Childhood onset
OMIM:612999	SYNE1	23345	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612999	SYNE1	23345	HP:0003701	Proximal muscle weakness
OMIM:612999	SYNE1	23345	HP:0003560	Muscular dystrophy
OMIM:612999	SYNE1	23345	HP:0000006	Autosomal dominant inheritance
OMIM:612999	SYNE1	23345	HP:0011675	Arrhythmia
OMIM:612999	TMEM43	79188	HP:0003812	Phenotypic variability
OMIM:612999	TMEM43	79188	HP:0007126	Proximal amyotrophy
OMIM:612999	TMEM43	79188	HP:0002093	Respiratory insufficiency
OMIM:612999	TMEM43	79188	HP:0001638	Cardiomyopathy
OMIM:612999	TMEM43	79188	HP:0011463	Childhood onset
OMIM:612999	TMEM43	79188	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612999	TMEM43	79188	HP:0003701	Proximal muscle weakness
OMIM:612999	TMEM43	79188	HP:0003560	Muscular dystrophy
OMIM:612999	TMEM43	79188	HP:0000006	Autosomal dominant inheritance
OMIM:612999	TMEM43	79188	HP:0011675	Arrhythmia
OMIM:612999	SYNE2	23224	HP:0003812	Phenotypic variability
OMIM:612999	SYNE2	23224	HP:0007126	Proximal amyotrophy
OMIM:612999	SYNE2	23224	HP:0002093	Respiratory insufficiency
OMIM:612999	SYNE2	23224	HP:0001638	Cardiomyopathy
OMIM:612999	SYNE2	23224	HP:0011463	Childhood onset
OMIM:612999	SYNE2	23224	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612999	SYNE2	23224	HP:0003701	Proximal muscle weakness
OMIM:612999	SYNE2	23224	HP:0003560	Muscular dystrophy
OMIM:612999	SYNE2	23224	HP:0000006	Autosomal dominant inheritance
OMIM:612999	SYNE2	23224	HP:0011675	Arrhythmia
OMIM:255800	HSPG2	3339	HP:0000316	Hypertelorism
OMIM:255800	HSPG2	3339	HP:0000272	Malar flattening
OMIM:255800	HSPG2	3339	HP:0000007	Autosomal recessive inheritance
OMIM:255800	HSPG2	3339	HP:0000772	Abnormality of the ribs
OMIM:255800	HSPG2	3339	HP:0001376	Limitation of joint mobility
OMIM:255800	HSPG2	3339	HP:0000581	Blepharophimosis
OMIM:255800	HSPG2	3339	HP:0000160	Narrow mouth
OMIM:255800	HSPG2	3339	HP:0000343	Long philtrum
OMIM:255800	HSPG2	3339	HP:0000069	Abnormality of the ureter
OMIM:255800	HSPG2	3339	HP:0000369	Low-set ears
OMIM:255800	HSPG2	3339	HP:0000426	Prominent nasal bridge
OMIM:255800	HSPG2	3339	HP:0001315	Reduced tendon reflexes
OMIM:255800	HSPG2	3339	HP:0000767	Pectus excavatum
OMIM:255800	HSPG2	3339	HP:0000486	Strabismus
OMIM:255800	HSPG2	3339	HP:0001561	Polyhydramnios
OMIM:255800	HSPG2	3339	HP:0000534	Abnormality of the eyebrow
OMIM:255800	HSPG2	3339	HP:0001083	Ectopia lentis
OMIM:255800	HSPG2	3339	HP:0000482	Microcornea
OMIM:255800	HSPG2	3339	HP:0002652	Skeletal dysplasia
OMIM:255800	HSPG2	3339	HP:0002650	Scoliosis
OMIM:255800	HSPG2	3339	HP:0000294	Low anterior hairline
OMIM:255800	HSPG2	3339	HP:0000508	Ptosis
OMIM:255800	HSPG2	3339	HP:0002812	Coxa vara
OMIM:255800	HSPG2	3339	HP:0002938	Lumbar hyperlordosis
OMIM:255800	HSPG2	3339	HP:0007018	Attention deficit hyperactivity disorder
OMIM:255800	HSPG2	3339	HP:0003042	Elbow dislocation
OMIM:255800	HSPG2	3339	HP:0000505	Visual impairment
OMIM:255800	HSPG2	3339	HP:0002093	Respiratory insufficiency
OMIM:255800	HSPG2	3339	HP:0003417	Coronal cleft vertebrae
OMIM:255800	HSPG2	3339	HP:0003273	Hip contracture
OMIM:255800	HSPG2	3339	HP:0001762	Talipes equinovarus
OMIM:255800	HSPG2	3339	HP:0003307	Hyperlordosis
OMIM:255800	HSPG2	3339	HP:0003457	EMG abnormality
OMIM:255800	HSPG2	3339	HP:0000347	Micrognathia
OMIM:255800	HSPG2	3339	HP:0000470	Short neck
OMIM:255800	HSPG2	3339	HP:0001601	Laryngomalacia
OMIM:255800	HSPG2	3339	HP:0000232	Everted lower lip vermilion
OMIM:255800	HSPG2	3339	HP:0000787	Nephrolithiasis
OMIM:255800	HSPG2	3339	HP:0000912	Sprengel anomaly
OMIM:255800	HSPG2	3339	HP:0001288	Gait disturbance
OMIM:255800	HSPG2	3339	HP:0001537	Umbilical hernia
OMIM:255800	HSPG2	3339	HP:0001374	Congenital hip dislocation
OMIM:255800	HSPG2	3339	HP:0001557	Prenatal movement abnormality
OMIM:255800	HSPG2	3339	HP:0000293	Full cheeks
OMIM:255800	HSPG2	3339	HP:0002751	Kyphoscoliosis
OMIM:255800	HSPG2	3339	HP:0004322	Short stature
OMIM:255800	HSPG2	3339	HP:0000298	Mask-like facies
OMIM:255800	HSPG2	3339	HP:0001265	Hyporeflexia
OMIM:255800	HSPG2	3339	HP:0100813	Testicular torsion
OMIM:255800	HSPG2	3339	HP:0000768	Pectus carinatum
OMIM:255800	HSPG2	3339	HP:0000600	Abnormality of the pharynx
OMIM:255800	HSPG2	3339	HP:0002104	Apnea
OMIM:255800	HSPG2	3339	HP:0000396	Overfolded helix
OMIM:255800	HSPG2	3339	HP:0001276	Hypertonia
OMIM:255800	HSPG2	3339	HP:0001763	Pes planus
OMIM:255800	HSPG2	3339	HP:0005930	Abnormality of epiphysis morphology
OMIM:255800	HSPG2	3339	HP:0003202	Skeletal muscle atrophy
OMIM:255800	HSPG2	3339	HP:0002983	Micromelia
OMIM:255800	HSPG2	3339	HP:0001324	Muscle weakness
OMIM:255800	HSPG2	3339	HP:0002167	Neurological speech impairment
OMIM:255800	HSPG2	3339	HP:0003326	Myalgia
OMIM:255800	HSPG2	3339	HP:0000545	Myopia
OMIM:255800	HSPG2	3339	HP:0004325	Decreased body weight
OMIM:255800	HSPG2	3339	HP:0002804	Arthrogryposis multiplex congenita
OMIM:255800	HSPG2	3339	HP:0000368	Low-set, posteriorly rotated ears
OMIM:255800	HSPG2	3339	HP:0011675	Arrhythmia
OMIM:255800	HSPG2	3339	HP:0006499	Abnormality of femoral epiphysis
OMIM:255800	HSPG2	3339	HP:0001883	Talipes
OMIM:255800	HSPG2	3339	HP:0010978	Abnormality of immune system physiology
OMIM:255800	HSPG2	3339	HP:0004349	Reduced bone mineral density
OMIM:255800	HSPG2	3339	HP:0000939	Osteoporosis
OMIM:255800	HSPG2	3339	HP:0002673	Coxa valga
OMIM:255800	HSPG2	3339	HP:0003016	Metaphyseal widening
OMIM:255800	HSPG2	3339	HP:0009473	Joint contracture of the hand
OMIM:255800	HSPG2	3339	HP:0002808	Kyphosis
OMIM:255800	HSPG2	3339	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:255800	HSPG2	3339	HP:0008734	Decreased testicular size
OMIM:255800	HSPG2	3339	HP:0000998	Hypertrichosis
OMIM:255800	HSPG2	3339	HP:0002750	Delayed skeletal maturation
OMIM:255800	HSPG2	3339	HP:0000518	Cataract
OMIM:255800	HSPG2	3339	HP:0000926	Platyspondyly
OMIM:255800	HSPG2	3339	HP:0003198	Myopathy
OMIM:255800	HSPG2	3339	HP:0011001	Increased bone mineral density
OMIM:255800	HSPG2	3339	HP:0001620	High pitched voice
OMIM:255800	HSPG2	3339	HP:0100543	Cognitive impairment
OMIM:255800	HSPG2	3339	HP:0008872	Feeding difficulties in infancy
OMIM:255800	HSPG2	3339	HP:0000252	Microcephaly
OMIM:255800	HSPG2	3339	HP:0003712	Skeletal muscle hypertrophy
OMIM:255800	HSPG2	3339	HP:0012368	Flat face
OMIM:255800	HSPG2	3339	HP:0002857	Genu valgum
OMIM:255800	HSPG2	3339	HP:0100569	Abnormal vertebral ossification
OMIM:255800	HSPG2	3339	HP:0003306	Spinal rigidity
OMIM:255800	HSPG2	3339	HP:0000944	Abnormality of the metaphyses
OMIM:255800	HSPG2	3339	HP:0001249	Intellectual disability
OMIM:255800	HSPG2	3339	HP:0002645	Wormian bones
OMIM:255800	HSPG2	3339	HP:0000175	Cleft palate
OMIM:255800	HSPG2	3339	HP:0000023	Inguinal hernia
OMIM:300867	KMT2D	8085	HP:0000252	Microcephaly
OMIM:300867	KMT2D	8085	HP:0000708	Behavioral abnormality
OMIM:300867	KMT2D	8085	HP:0001250	Seizures
OMIM:300867	KMT2D	8085	HP:0000218	High palate
OMIM:300867	KMT2D	8085	HP:0005338	Sparse lateral eyebrow
OMIM:300867	KMT2D	8085	HP:0000455	Broad nasal tip
OMIM:300867	KMT2D	8085	HP:0000689	Dental malocclusion
OMIM:300867	KMT2D	8085	HP:0006695	Atrioventricular canal defect
OMIM:300867	KMT2D	8085	HP:0000411	Protruding ear
OMIM:300867	KMT2D	8085	HP:0001642	Pulmonic stenosis
OMIM:300867	KMT2D	8085	HP:0004322	Short stature
OMIM:300867	KMT2D	8085	HP:0001007	Hirsutism
OMIM:300867	KMT2D	8085	HP:0001680	Coarctation of aorta
OMIM:300867	KMT2D	8085	HP:0000695	Natal tooth
OMIM:300867	KMT2D	8085	HP:0002553	Highly arched eyebrow
OMIM:300867	KMT2D	8085	HP:0001263	Global developmental delay
OMIM:300867	KMT2D	8085	HP:0004325	Decreased body weight
OMIM:300867	KMT2D	8085	HP:0000486	Strabismus
OMIM:300867	KMT2D	8085	HP:0001423	X-linked dominant inheritance
OMIM:300867	KMT2D	8085	HP:0001252	Muscular hypotonia
OMIM:300867	KMT2D	8085	HP:0000527	Long eyelashes
OMIM:300867	KMT2D	8085	HP:0001631	Atria septal defect
OMIM:300867	KMT2D	8085	HP:0000175	Cleft palate
OMIM:300867	KMT2D	8085	HP:0000668	Hypodontia
OMIM:300867	KMT2D	8085	HP:0000769	Abnormality of the breast
OMIM:300867	KMT2D	8085	HP:0001156	Brachydactyly syndrome
OMIM:300867	KMT2D	8085	HP:0000378	Cupped ear
OMIM:300867	KMT2D	8085	HP:0008872	Feeding difficulties in infancy
OMIM:300867	KDM6A	7403	HP:0000252	Microcephaly
OMIM:300867	KDM6A	7403	HP:0000708	Behavioral abnormality
OMIM:300867	KDM6A	7403	HP:0001250	Seizures
OMIM:300867	KDM6A	7403	HP:0000218	High palate
OMIM:300867	KDM6A	7403	HP:0005338	Sparse lateral eyebrow
OMIM:300867	KDM6A	7403	HP:0000455	Broad nasal tip
OMIM:300867	KDM6A	7403	HP:0000689	Dental malocclusion
OMIM:300867	KDM6A	7403	HP:0006695	Atrioventricular canal defect
OMIM:300867	KDM6A	7403	HP:0000411	Protruding ear
OMIM:300867	KDM6A	7403	HP:0001642	Pulmonic stenosis
OMIM:300867	KDM6A	7403	HP:0004322	Short stature
OMIM:300867	KDM6A	7403	HP:0001007	Hirsutism
OMIM:300867	KDM6A	7403	HP:0001680	Coarctation of aorta
OMIM:300867	KDM6A	7403	HP:0000695	Natal tooth
OMIM:300867	KDM6A	7403	HP:0002553	Highly arched eyebrow
OMIM:300867	KDM6A	7403	HP:0001263	Global developmental delay
OMIM:300867	KDM6A	7403	HP:0004325	Decreased body weight
OMIM:300867	KDM6A	7403	HP:0000486	Strabismus
OMIM:300867	KDM6A	7403	HP:0001423	X-linked dominant inheritance
OMIM:300867	KDM6A	7403	HP:0001252	Muscular hypotonia
OMIM:300867	KDM6A	7403	HP:0000527	Long eyelashes
OMIM:300867	KDM6A	7403	HP:0001631	Atria septal defect
OMIM:300867	KDM6A	7403	HP:0000175	Cleft palate
OMIM:300867	KDM6A	7403	HP:0000668	Hypodontia
OMIM:300867	KDM6A	7403	HP:0000769	Abnormality of the breast
OMIM:300867	KDM6A	7403	HP:0001156	Brachydactyly syndrome
OMIM:300867	KDM6A	7403	HP:0000378	Cupped ear
OMIM:300867	KDM6A	7403	HP:0008872	Feeding difficulties in infancy
OMIM:607677	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:607677	MPZ	4359	HP:0003376	Steppage gait
OMIM:607677	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:607677	MPZ	4359	HP:0001284	Areflexia
OMIM:607677	MPZ	4359	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:607677	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:607677	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:607677	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:607677	MPZ	4359	HP:0001761	Pes cavus
OMIM:602501	PIK3CA	5290	HP:0009748	Large earlobe
OMIM:602501	PIK3CA	5290	HP:0000337	Broad forehead
OMIM:602501	PIK3CA	5290	HP:0001629	Ventricular septal defect
OMIM:602501	PIK3CA	5290	HP:0000490	Deeply set eye
OMIM:602501	PIK3CA	5290	HP:0001252	Muscular hypotonia
OMIM:602501	PIK3CA	5290	HP:0000324	Facial asymmetry
OMIM:602501	PIK3CA	5290	HP:0000238	Hydrocephalus
OMIM:602501	PIK3CA	5290	HP:0001263	Global developmental delay
OMIM:602501	PIK3CA	5290	HP:0011675	Arrhythmia
OMIM:602501	PIK3CA	5290	HP:0002637	Cerebral ischemia
OMIM:602501	PIK3CA	5290	HP:0000293	Full cheeks
OMIM:602501	PIK3CA	5290	HP:0001249	Intellectual disability
OMIM:602501	PIK3CA	5290	HP:0001909	Leukemia
OMIM:602501	PIK3CA	5290	HP:0000154	Wide mouth
OMIM:602501	PIK3CA	5290	HP:0002126	Polymicrogyria
OMIM:602501	PIK3CA	5290	HP:0100790	Hernia
OMIM:602501	PIK3CA	5290	HP:0100543	Cognitive impairment
OMIM:602501	PIK3CA	5290	HP:0001382	Joint hypermobility
OMIM:602501	PIK3CA	5290	HP:0004481	Progressive macrocephaly
OMIM:602501	PIK3CA	5290	HP:0002308	Arnold-Chiari malformation
OMIM:602501	PIK3CA	5290	HP:0001548	Overgrowth
OMIM:602501	PIK3CA	5290	HP:0000348	High forehead
OMIM:602501	PIK3CA	5290	HP:0000316	Hypertelorism
OMIM:602501	PIK3CA	5290	HP:0000568	Microphthalmia
OMIM:602501	PIK3CA	5290	HP:0100555	Asymmetric growth
OMIM:602501	PIK3CA	5290	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:602501	PIK3CA	5290	HP:0100026	Arteriovenous malformation
OMIM:602501	PIK3CA	5290	HP:0002858	Meningioma
OMIM:602501	PIK3CA	5290	HP:0000319	Smooth philtrum
OMIM:602501	PIK3CA	5290	HP:0005280	Depressed nasal bridge
OMIM:602501	PIK3CA	5290	HP:0001159	Syndactyly
OMIM:602501	PIK3CA	5290	HP:0006101	Finger syndactyly
OMIM:602501	PIK3CA	5290	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:602501	PIK3CA	5290	HP:0001161	Hand polydactyly
OMIM:602501	PIK3CA	5290	HP:0001770	Toe syndactyly
OMIM:602501	PIK3CA	5290	HP:0002119	Ventriculomegaly
OMIM:602501	PIK3CA	5290	HP:0100585	Telangiectasia of the skin
OMIM:602501	PIK3CA	5290	HP:0000965	Cutis marmorata
OMIM:602501	PIK3CA	5290	HP:0003745	Sporadic
OMIM:602501	PIK3CA	5290	HP:0010442	Polydactyly
OMIM:602501	PIK3CA	5290	HP:0000494	Downslanted palpebral fissures
OMIM:602501	PIK3CA	5290	HP:0001428	Somatic mutation
OMIM:602501	PIK3CA	5290	HP:0002269	Abnormality of neuronal migration
OMIM:602501	PIK3CA	5290	HP:0001250	Seizures
OMIM:602501	PIK3CA	5290	HP:0000256	Macrocephaly
OMIM:602501	PIK3CA	5290	HP:0001034	Hypermelanotic macule
OMIM:602501	PIK3CA	5290	HP:0002007	Frontal bossing
OMIM:602501	PIK3CA	5290	HP:0000648	Optic atrophy
OMIM:602501	PIK3CA	5290	HP:0001829	Foot polydactyly
OMIM:602501	PIK3CA	5290	HP:0000286	Epicanthus
OMIM:602501	PIK3CA	5290	HP:0001388	Joint laxity
ORPHANET:893	WT1	7490	HP:0000508	Ptosis
ORPHANET:893	WT1	7490	HP:0002650	Scoliosis
ORPHANET:893	WT1	7490	HP:0000639	Nystagmus
ORPHANET:893	WT1	7490	HP:0100543	Cognitive impairment
ORPHANET:893	WT1	7490	HP:0000232	Everted lower lip vermilion
ORPHANET:893	WT1	7490	HP:0004299	Hernia of the abdominal wall
ORPHANET:893	WT1	7490	HP:0000252	Microcephaly
ORPHANET:893	WT1	7490	HP:0000518	Cataract
ORPHANET:893	WT1	7490	HP:0004322	Short stature
ORPHANET:893	WT1	7490	HP:0000062	Ambiguous genitalia
ORPHANET:893	WT1	7490	HP:0000501	Glaucoma
ORPHANET:893	WT1	7490	HP:0000028	Cryptorchidism
ORPHANET:893	WT1	7490	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:893	WT1	7490	HP:0000364	Hearing abnormality
ORPHANET:893	WT1	7490	HP:0001513	Obesity
ORPHANET:893	WT1	7490	HP:0000347	Micrognathia
ORPHANET:893	WT1	7490	HP:0000505	Visual impairment
ORPHANET:893	WT1	7490	HP:0100627	Displacement of the external urethral meatus
ORPHANET:893	BDNF	627	HP:0000508	Ptosis
ORPHANET:893	BDNF	627	HP:0002650	Scoliosis
ORPHANET:893	BDNF	627	HP:0000639	Nystagmus
ORPHANET:893	BDNF	627	HP:0100543	Cognitive impairment
ORPHANET:893	BDNF	627	HP:0000232	Everted lower lip vermilion
ORPHANET:893	BDNF	627	HP:0004299	Hernia of the abdominal wall
ORPHANET:893	BDNF	627	HP:0000252	Microcephaly
ORPHANET:893	BDNF	627	HP:0000518	Cataract
ORPHANET:893	BDNF	627	HP:0004322	Short stature
ORPHANET:893	BDNF	627	HP:0000062	Ambiguous genitalia
ORPHANET:893	BDNF	627	HP:0000501	Glaucoma
ORPHANET:893	BDNF	627	HP:0000028	Cryptorchidism
ORPHANET:893	BDNF	627	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:893	BDNF	627	HP:0000364	Hearing abnormality
ORPHANET:893	BDNF	627	HP:0001513	Obesity
ORPHANET:893	BDNF	627	HP:0000347	Micrognathia
ORPHANET:893	BDNF	627	HP:0000505	Visual impairment
ORPHANET:893	BDNF	627	HP:0100627	Displacement of the external urethral meatus
ORPHANET:893	PAX6	5080	HP:0000508	Ptosis
ORPHANET:893	PAX6	5080	HP:0002650	Scoliosis
ORPHANET:893	PAX6	5080	HP:0000639	Nystagmus
ORPHANET:893	PAX6	5080	HP:0100543	Cognitive impairment
ORPHANET:893	PAX6	5080	HP:0000232	Everted lower lip vermilion
ORPHANET:893	PAX6	5080	HP:0004299	Hernia of the abdominal wall
ORPHANET:893	PAX6	5080	HP:0000252	Microcephaly
ORPHANET:893	PAX6	5080	HP:0000518	Cataract
ORPHANET:893	PAX6	5080	HP:0004322	Short stature
ORPHANET:893	PAX6	5080	HP:0000062	Ambiguous genitalia
ORPHANET:893	PAX6	5080	HP:0000501	Glaucoma
ORPHANET:893	PAX6	5080	HP:0000028	Cryptorchidism
ORPHANET:893	PAX6	5080	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:893	PAX6	5080	HP:0000364	Hearing abnormality
ORPHANET:893	PAX6	5080	HP:0001513	Obesity
ORPHANET:893	PAX6	5080	HP:0000347	Micrognathia
ORPHANET:893	PAX6	5080	HP:0000505	Visual impairment
ORPHANET:893	PAX6	5080	HP:0100627	Displacement of the external urethral meatus
OMIM:601200	DICER1	23405	HP:0000006	Autosomal dominant inheritance
OMIM:601200	DICER1	23405	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:601200	DICER1	23405	HP:0002885	Medulloblastoma
OMIM:601200	DICER1	23405	HP:0002859	Rhabdomyosarcoma
OMIM:608203	RAC2	5880	HP:0001874	Abnormality of neutrophils
OMIM:608203	RAC2	5880	HP:0010978	Abnormality of immune system physiology
OMIM:608203	RAC2	5880	HP:0002721	Immunodeficiency
OMIM:243060	NANOS1	340719	HP:0000025	Functional abnormality of male internal genitalia
OMIM:243060	NANOS1	340719	HP:0000007	Autosomal recessive inheritance
OMIM:243060	NANOS1	340719	HP:0003251	Male infertility
OMIM:243060	AURKC	6795	HP:0000025	Functional abnormality of male internal genitalia
OMIM:243060	AURKC	6795	HP:0000007	Autosomal recessive inheritance
OMIM:243060	AURKC	6795	HP:0003251	Male infertility
OMIM:201300	KIF1A	547	HP:0002020	Gastroesophageal reflux
OMIM:201300	KIF1A	547	HP:0001818	Paronychia
OMIM:201300	KIF1A	547	HP:0001265	Hyporeflexia
OMIM:201300	KIF1A	547	HP:0001842	Acroosteolysis (feet)
OMIM:201300	KIF1A	547	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:201300	KIF1A	547	HP:0000762	Decreased nerve conduction velocity
OMIM:201300	KIF1A	547	HP:0001252	Muscular hypotonia
OMIM:201300	KIF1A	547	HP:0009830	Peripheral neuropathy
OMIM:201300	KIF1A	547	HP:0000224	Decreased taste sensation
OMIM:201300	KIF1A	547	HP:0002661	Painless fractures due to injury
OMIM:201300	KIF1A	547	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:201300	KIF1A	547	HP:0000970	Anhidrosis
OMIM:201300	KIF1A	547	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:201300	KIF1A	547	HP:0003593	Infantile onset
OMIM:201300	KIF1A	547	HP:0000007	Autosomal recessive inheritance
OMIM:201300	KIF1A	547	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:201300	KIF1A	547	HP:0001284	Areflexia
OMIM:201300	KIF1A	547	HP:0003677	Slow progression
OMIM:201300	KIF1A	547	HP:0008872	Feeding difficulties in infancy
OMIM:201300	KIF1A	547	HP:0001069	Episodic hyperhidrosis
OMIM:201300	KIF1A	547	HP:0000478	Abnormality of the eye
OMIM:201300	KIF1A	547	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:201300	WNK1	65125	HP:0002020	Gastroesophageal reflux
OMIM:201300	WNK1	65125	HP:0001818	Paronychia
OMIM:201300	WNK1	65125	HP:0001265	Hyporeflexia
OMIM:201300	WNK1	65125	HP:0001842	Acroosteolysis (feet)
OMIM:201300	WNK1	65125	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:201300	WNK1	65125	HP:0000762	Decreased nerve conduction velocity
OMIM:201300	WNK1	65125	HP:0001252	Muscular hypotonia
OMIM:201300	WNK1	65125	HP:0009830	Peripheral neuropathy
OMIM:201300	WNK1	65125	HP:0000224	Decreased taste sensation
OMIM:201300	WNK1	65125	HP:0002661	Painless fractures due to injury
OMIM:201300	WNK1	65125	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:201300	WNK1	65125	HP:0000970	Anhidrosis
OMIM:201300	WNK1	65125	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:201300	WNK1	65125	HP:0003593	Infantile onset
OMIM:201300	WNK1	65125	HP:0000007	Autosomal recessive inheritance
OMIM:201300	WNK1	65125	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:201300	WNK1	65125	HP:0001284	Areflexia
OMIM:201300	WNK1	65125	HP:0003677	Slow progression
OMIM:201300	WNK1	65125	HP:0008872	Feeding difficulties in infancy
OMIM:201300	WNK1	65125	HP:0001069	Episodic hyperhidrosis
OMIM:201300	WNK1	65125	HP:0000478	Abnormality of the eye
OMIM:201300	WNK1	65125	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:201300	SCN9A	6335	HP:0002020	Gastroesophageal reflux
OMIM:201300	SCN9A	6335	HP:0001818	Paronychia
OMIM:201300	SCN9A	6335	HP:0001265	Hyporeflexia
OMIM:201300	SCN9A	6335	HP:0001842	Acroosteolysis (feet)
OMIM:201300	SCN9A	6335	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:201300	SCN9A	6335	HP:0000762	Decreased nerve conduction velocity
OMIM:201300	SCN9A	6335	HP:0001252	Muscular hypotonia
OMIM:201300	SCN9A	6335	HP:0009830	Peripheral neuropathy
OMIM:201300	SCN9A	6335	HP:0000224	Decreased taste sensation
OMIM:201300	SCN9A	6335	HP:0002661	Painless fractures due to injury
OMIM:201300	SCN9A	6335	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:201300	SCN9A	6335	HP:0000970	Anhidrosis
OMIM:201300	SCN9A	6335	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:201300	SCN9A	6335	HP:0003593	Infantile onset
OMIM:201300	SCN9A	6335	HP:0000007	Autosomal recessive inheritance
OMIM:201300	SCN9A	6335	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:201300	SCN9A	6335	HP:0001284	Areflexia
OMIM:201300	SCN9A	6335	HP:0003677	Slow progression
OMIM:201300	SCN9A	6335	HP:0008872	Feeding difficulties in infancy
OMIM:201300	SCN9A	6335	HP:0001069	Episodic hyperhidrosis
OMIM:201300	SCN9A	6335	HP:0000478	Abnormality of the eye
OMIM:201300	SCN9A	6335	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:201300	FAM134B	54463	HP:0002020	Gastroesophageal reflux
OMIM:201300	FAM134B	54463	HP:0001818	Paronychia
OMIM:201300	FAM134B	54463	HP:0001265	Hyporeflexia
OMIM:201300	FAM134B	54463	HP:0001842	Acroosteolysis (feet)
OMIM:201300	FAM134B	54463	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:201300	FAM134B	54463	HP:0000762	Decreased nerve conduction velocity
OMIM:201300	FAM134B	54463	HP:0001252	Muscular hypotonia
OMIM:201300	FAM134B	54463	HP:0009830	Peripheral neuropathy
OMIM:201300	FAM134B	54463	HP:0000224	Decreased taste sensation
OMIM:201300	FAM134B	54463	HP:0002661	Painless fractures due to injury
OMIM:201300	FAM134B	54463	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:201300	FAM134B	54463	HP:0000970	Anhidrosis
OMIM:201300	FAM134B	54463	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:201300	FAM134B	54463	HP:0003593	Infantile onset
OMIM:201300	FAM134B	54463	HP:0000007	Autosomal recessive inheritance
OMIM:201300	FAM134B	54463	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:201300	FAM134B	54463	HP:0001284	Areflexia
OMIM:201300	FAM134B	54463	HP:0003677	Slow progression
OMIM:201300	FAM134B	54463	HP:0008872	Feeding difficulties in infancy
OMIM:201300	FAM134B	54463	HP:0001069	Episodic hyperhidrosis
OMIM:201300	FAM134B	54463	HP:0000478	Abnormality of the eye
OMIM:201300	FAM134B	54463	HP:0006121	Acral ulceration leading to autoamputation of digits
OMIM:206100	SLC11A2	4891	HP:0000007	Autosomal recessive inheritance
OMIM:206100	SLC11A2	4891	HP:0001392	Abnormality of the liver
OMIM:206100	SLC11A2	4891	HP:0001903	Anemia
OMIM:206100	SLC11A2	4891	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:614464	CEP41	95681	HP:0000054	Micropenis
OMIM:614464	CEP41	95681	HP:0001263	Global developmental delay
OMIM:614464	CEP41	95681	HP:0000657	Oculomotor apraxia
OMIM:614464	CEP41	95681	HP:0000090	Nephronophthisis
OMIM:614464	CEP41	95681	HP:0000062	Ambiguous genitalia
OMIM:614464	CEP41	95681	HP:0000556	Retinal dystrophy
OMIM:614464	CEP41	95681	HP:0001249	Intellectual disability
OMIM:614464	CEP41	95681	HP:0001251	Ataxia
OMIM:614464	CEP41	95681	HP:0000007	Autosomal recessive inheritance
OMIM:614464	CEP41	95681	HP:0001252	Muscular hypotonia
OMIM:614464	CEP41	95681	HP:0010442	Polydactyly
OMIM:614464	CEP41	95681	HP:0000488	Retinopathy
OMIM:614464	CEP41	95681	HP:0002419	Molar tooth sign on MRI
OMIM:614464	C5ORF42	65250	HP:0000054	Micropenis
OMIM:614464	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:614464	C5ORF42	65250	HP:0000657	Oculomotor apraxia
OMIM:614464	C5ORF42	65250	HP:0000090	Nephronophthisis
OMIM:614464	C5ORF42	65250	HP:0000062	Ambiguous genitalia
OMIM:614464	C5ORF42	65250	HP:0000556	Retinal dystrophy
OMIM:614464	C5ORF42	65250	HP:0001249	Intellectual disability
OMIM:614464	C5ORF42	65250	HP:0001251	Ataxia
OMIM:614464	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:614464	C5ORF42	65250	HP:0001252	Muscular hypotonia
OMIM:614464	C5ORF42	65250	HP:0010442	Polydactyly
OMIM:614464	C5ORF42	65250	HP:0000488	Retinopathy
OMIM:614464	C5ORF42	65250	HP:0002419	Molar tooth sign on MRI
OMIM:614464	B9D1	27077	HP:0000054	Micropenis
OMIM:614464	B9D1	27077	HP:0001263	Global developmental delay
OMIM:614464	B9D1	27077	HP:0000657	Oculomotor apraxia
OMIM:614464	B9D1	27077	HP:0000090	Nephronophthisis
OMIM:614464	B9D1	27077	HP:0000062	Ambiguous genitalia
OMIM:614464	B9D1	27077	HP:0000556	Retinal dystrophy
OMIM:614464	B9D1	27077	HP:0001249	Intellectual disability
OMIM:614464	B9D1	27077	HP:0001251	Ataxia
OMIM:614464	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:614464	B9D1	27077	HP:0001252	Muscular hypotonia
OMIM:614464	B9D1	27077	HP:0010442	Polydactyly
OMIM:614464	B9D1	27077	HP:0000488	Retinopathy
OMIM:614464	B9D1	27077	HP:0002419	Molar tooth sign on MRI
OMIM:614464	TMEM237	65062	HP:0000054	Micropenis
OMIM:614464	TMEM237	65062	HP:0001263	Global developmental delay
OMIM:614464	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:614464	TMEM237	65062	HP:0000090	Nephronophthisis
OMIM:614464	TMEM237	65062	HP:0000062	Ambiguous genitalia
OMIM:614464	TMEM237	65062	HP:0000556	Retinal dystrophy
OMIM:614464	TMEM237	65062	HP:0001249	Intellectual disability
OMIM:614464	TMEM237	65062	HP:0001251	Ataxia
OMIM:614464	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:614464	TMEM237	65062	HP:0001252	Muscular hypotonia
OMIM:614464	TMEM237	65062	HP:0010442	Polydactyly
OMIM:614464	TMEM237	65062	HP:0000488	Retinopathy
OMIM:614464	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:614464	CSPP1	79848	HP:0000054	Micropenis
OMIM:614464	CSPP1	79848	HP:0001263	Global developmental delay
OMIM:614464	CSPP1	79848	HP:0000657	Oculomotor apraxia
OMIM:614464	CSPP1	79848	HP:0000090	Nephronophthisis
OMIM:614464	CSPP1	79848	HP:0000062	Ambiguous genitalia
OMIM:614464	CSPP1	79848	HP:0000556	Retinal dystrophy
OMIM:614464	CSPP1	79848	HP:0001249	Intellectual disability
OMIM:614464	CSPP1	79848	HP:0001251	Ataxia
OMIM:614464	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:614464	CSPP1	79848	HP:0001252	Muscular hypotonia
OMIM:614464	CSPP1	79848	HP:0010442	Polydactyly
OMIM:614464	CSPP1	79848	HP:0000488	Retinopathy
OMIM:614464	CSPP1	79848	HP:0002419	Molar tooth sign on MRI
OMIM:614464	TMEM67	91147	HP:0000054	Micropenis
OMIM:614464	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:614464	TMEM67	91147	HP:0000657	Oculomotor apraxia
OMIM:614464	TMEM67	91147	HP:0000090	Nephronophthisis
OMIM:614464	TMEM67	91147	HP:0000062	Ambiguous genitalia
OMIM:614464	TMEM67	91147	HP:0000556	Retinal dystrophy
OMIM:614464	TMEM67	91147	HP:0001249	Intellectual disability
OMIM:614464	TMEM67	91147	HP:0001251	Ataxia
OMIM:614464	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:614464	TMEM67	91147	HP:0001252	Muscular hypotonia
OMIM:614464	TMEM67	91147	HP:0010442	Polydactyly
OMIM:614464	TMEM67	91147	HP:0000488	Retinopathy
OMIM:614464	TMEM67	91147	HP:0002419	Molar tooth sign on MRI
OMIM:614464	INPP5E	56623	HP:0000054	Micropenis
OMIM:614464	INPP5E	56623	HP:0001263	Global developmental delay
OMIM:614464	INPP5E	56623	HP:0000657	Oculomotor apraxia
OMIM:614464	INPP5E	56623	HP:0000090	Nephronophthisis
OMIM:614464	INPP5E	56623	HP:0000062	Ambiguous genitalia
OMIM:614464	INPP5E	56623	HP:0000556	Retinal dystrophy
OMIM:614464	INPP5E	56623	HP:0001249	Intellectual disability
OMIM:614464	INPP5E	56623	HP:0001251	Ataxia
OMIM:614464	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:614464	INPP5E	56623	HP:0001252	Muscular hypotonia
OMIM:614464	INPP5E	56623	HP:0010442	Polydactyly
OMIM:614464	INPP5E	56623	HP:0000488	Retinopathy
OMIM:614464	INPP5E	56623	HP:0002419	Molar tooth sign on MRI
OMIM:614464	TCTN1	79600	HP:0000054	Micropenis
OMIM:614464	TCTN1	79600	HP:0001263	Global developmental delay
OMIM:614464	TCTN1	79600	HP:0000657	Oculomotor apraxia
OMIM:614464	TCTN1	79600	HP:0000090	Nephronophthisis
OMIM:614464	TCTN1	79600	HP:0000062	Ambiguous genitalia
OMIM:614464	TCTN1	79600	HP:0000556	Retinal dystrophy
OMIM:614464	TCTN1	79600	HP:0001249	Intellectual disability
OMIM:614464	TCTN1	79600	HP:0001251	Ataxia
OMIM:614464	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:614464	TCTN1	79600	HP:0001252	Muscular hypotonia
OMIM:614464	TCTN1	79600	HP:0010442	Polydactyly
OMIM:614464	TCTN1	79600	HP:0000488	Retinopathy
OMIM:614464	TCTN1	79600	HP:0002419	Molar tooth sign on MRI
OMIM:614464	AHI1	54806	HP:0000054	Micropenis
OMIM:614464	AHI1	54806	HP:0001263	Global developmental delay
OMIM:614464	AHI1	54806	HP:0000657	Oculomotor apraxia
OMIM:614464	AHI1	54806	HP:0000090	Nephronophthisis
OMIM:614464	AHI1	54806	HP:0000062	Ambiguous genitalia
OMIM:614464	AHI1	54806	HP:0000556	Retinal dystrophy
OMIM:614464	AHI1	54806	HP:0001249	Intellectual disability
OMIM:614464	AHI1	54806	HP:0001251	Ataxia
OMIM:614464	AHI1	54806	HP:0000007	Autosomal recessive inheritance
OMIM:614464	AHI1	54806	HP:0001252	Muscular hypotonia
OMIM:614464	AHI1	54806	HP:0010442	Polydactyly
OMIM:614464	AHI1	54806	HP:0000488	Retinopathy
OMIM:614464	AHI1	54806	HP:0002419	Molar tooth sign on MRI
OMIM:614464	MKS1	54903	HP:0000054	Micropenis
OMIM:614464	MKS1	54903	HP:0001263	Global developmental delay
OMIM:614464	MKS1	54903	HP:0000657	Oculomotor apraxia
OMIM:614464	MKS1	54903	HP:0000090	Nephronophthisis
OMIM:614464	MKS1	54903	HP:0000062	Ambiguous genitalia
OMIM:614464	MKS1	54903	HP:0000556	Retinal dystrophy
OMIM:614464	MKS1	54903	HP:0001249	Intellectual disability
OMIM:614464	MKS1	54903	HP:0001251	Ataxia
OMIM:614464	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:614464	MKS1	54903	HP:0001252	Muscular hypotonia
OMIM:614464	MKS1	54903	HP:0010442	Polydactyly
OMIM:614464	MKS1	54903	HP:0000488	Retinopathy
OMIM:614464	MKS1	54903	HP:0002419	Molar tooth sign on MRI
OMIM:614464	TCTN2	79867	HP:0000054	Micropenis
OMIM:614464	TCTN2	79867	HP:0001263	Global developmental delay
OMIM:614464	TCTN2	79867	HP:0000657	Oculomotor apraxia
OMIM:614464	TCTN2	79867	HP:0000090	Nephronophthisis
OMIM:614464	TCTN2	79867	HP:0000062	Ambiguous genitalia
OMIM:614464	TCTN2	79867	HP:0000556	Retinal dystrophy
OMIM:614464	TCTN2	79867	HP:0001249	Intellectual disability
OMIM:614464	TCTN2	79867	HP:0001251	Ataxia
OMIM:614464	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:614464	TCTN2	79867	HP:0001252	Muscular hypotonia
OMIM:614464	TCTN2	79867	HP:0010442	Polydactyly
OMIM:614464	TCTN2	79867	HP:0000488	Retinopathy
OMIM:614464	TCTN2	79867	HP:0002419	Molar tooth sign on MRI
OMIM:614464	KIAA0586	9786	HP:0000054	Micropenis
OMIM:614464	KIAA0586	9786	HP:0001263	Global developmental delay
OMIM:614464	KIAA0586	9786	HP:0000657	Oculomotor apraxia
OMIM:614464	KIAA0586	9786	HP:0000090	Nephronophthisis
OMIM:614464	KIAA0586	9786	HP:0000062	Ambiguous genitalia
OMIM:614464	KIAA0586	9786	HP:0000556	Retinal dystrophy
OMIM:614464	KIAA0586	9786	HP:0001249	Intellectual disability
OMIM:614464	KIAA0586	9786	HP:0001251	Ataxia
OMIM:614464	KIAA0586	9786	HP:0000007	Autosomal recessive inheritance
OMIM:614464	KIAA0586	9786	HP:0001252	Muscular hypotonia
OMIM:614464	KIAA0586	9786	HP:0010442	Polydactyly
OMIM:614464	KIAA0586	9786	HP:0000488	Retinopathy
OMIM:614464	KIAA0586	9786	HP:0002419	Molar tooth sign on MRI
OMIM:614464	ARL13B	200894	HP:0000054	Micropenis
OMIM:614464	ARL13B	200894	HP:0001263	Global developmental delay
OMIM:614464	ARL13B	200894	HP:0000657	Oculomotor apraxia
OMIM:614464	ARL13B	200894	HP:0000090	Nephronophthisis
OMIM:614464	ARL13B	200894	HP:0000062	Ambiguous genitalia
OMIM:614464	ARL13B	200894	HP:0000556	Retinal dystrophy
OMIM:614464	ARL13B	200894	HP:0001249	Intellectual disability
OMIM:614464	ARL13B	200894	HP:0001251	Ataxia
OMIM:614464	ARL13B	200894	HP:0000007	Autosomal recessive inheritance
OMIM:614464	ARL13B	200894	HP:0001252	Muscular hypotonia
OMIM:614464	ARL13B	200894	HP:0010442	Polydactyly
OMIM:614464	ARL13B	200894	HP:0000488	Retinopathy
OMIM:614464	ARL13B	200894	HP:0002419	Molar tooth sign on MRI
OMIM:600674	HOXA2	3199	HP:0001360	Holoprosencephaly
OMIM:600674	HOXA2	3199	HP:0008551	Microtia
OMIM:227645	FANCC	2176	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	FANCC	2176	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	FANCC	2176	HP:0000081	Duplicated collecting system
OMIM:227645	FANCC	2176	HP:0000978	Bruising susceptibility
OMIM:227645	FANCC	2176	HP:0001249	Intellectual disability
OMIM:227645	FANCC	2176	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	FANCC	2176	HP:0001518	Small for gestational age
OMIM:227645	FANCC	2176	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	FANCC	2176	HP:0000028	Cryptorchidism
OMIM:227645	FANCC	2176	HP:0001017	Anemic pallor
OMIM:227645	FANCC	2176	HP:0001873	Thrombocytopenia
OMIM:227645	FANCC	2176	HP:0000957	Cafe-au-lait spot
OMIM:227645	FANCC	2176	HP:0001903	Anemia
OMIM:227645	FANCC	2176	HP:0000007	Autosomal recessive inheritance
OMIM:227645	FANCC	2176	HP:0003974	Absent radius
OMIM:227645	FANCC	2176	HP:0000085	Horseshoe kidney
OMIM:227645	FANCC	2176	HP:0009778	Short thumb
OMIM:227645	FANCC	2176	HP:0000486	Strabismus
OMIM:227645	FANCC	2176	HP:0001875	Neutropenia
OMIM:227645	FANCC	2176	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	FANCC	2176	HP:0000086	Ectopic kidney
OMIM:227645	FANCC	2176	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	FANCC	2176	HP:0001876	Pancytopenia
OMIM:227645	FANCC	2176	HP:0000365	Hearing impairment
OMIM:227645	FANCC	2176	HP:0001909	Leukemia
OMIM:227645	FANCC	2176	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	FANCC	2176	HP:0000104	Renal agenesis
OMIM:227645	FANCC	2176	HP:0000252	Microcephaly
OMIM:227645	FANCC	2176	HP:0000568	Microphthalmia
OMIM:227645	FANCC	2176	HP:0009777	Absent thumb
OMIM:227645	FANCC	2176	HP:0001896	Reticulocytopenia
OMIM:227645	FANCC	2176	HP:0004322	Short stature
OMIM:227645	FANCD2	2177	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	FANCD2	2177	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	FANCD2	2177	HP:0000081	Duplicated collecting system
OMIM:227645	FANCD2	2177	HP:0000978	Bruising susceptibility
OMIM:227645	FANCD2	2177	HP:0001249	Intellectual disability
OMIM:227645	FANCD2	2177	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	FANCD2	2177	HP:0001518	Small for gestational age
OMIM:227645	FANCD2	2177	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	FANCD2	2177	HP:0000028	Cryptorchidism
OMIM:227645	FANCD2	2177	HP:0001017	Anemic pallor
OMIM:227645	FANCD2	2177	HP:0001873	Thrombocytopenia
OMIM:227645	FANCD2	2177	HP:0000957	Cafe-au-lait spot
OMIM:227645	FANCD2	2177	HP:0001903	Anemia
OMIM:227645	FANCD2	2177	HP:0000007	Autosomal recessive inheritance
OMIM:227645	FANCD2	2177	HP:0003974	Absent radius
OMIM:227645	FANCD2	2177	HP:0000085	Horseshoe kidney
OMIM:227645	FANCD2	2177	HP:0009778	Short thumb
OMIM:227645	FANCD2	2177	HP:0000486	Strabismus
OMIM:227645	FANCD2	2177	HP:0001875	Neutropenia
OMIM:227645	FANCD2	2177	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	FANCD2	2177	HP:0000086	Ectopic kidney
OMIM:227645	FANCD2	2177	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	FANCD2	2177	HP:0001876	Pancytopenia
OMIM:227645	FANCD2	2177	HP:0000365	Hearing impairment
OMIM:227645	FANCD2	2177	HP:0001909	Leukemia
OMIM:227645	FANCD2	2177	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	FANCD2	2177	HP:0000104	Renal agenesis
OMIM:227645	FANCD2	2177	HP:0000252	Microcephaly
OMIM:227645	FANCD2	2177	HP:0000568	Microphthalmia
OMIM:227645	FANCD2	2177	HP:0009777	Absent thumb
OMIM:227645	FANCD2	2177	HP:0001896	Reticulocytopenia
OMIM:227645	FANCD2	2177	HP:0004322	Short stature
OMIM:227645	FANCM	57697	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	FANCM	57697	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	FANCM	57697	HP:0000081	Duplicated collecting system
OMIM:227645	FANCM	57697	HP:0000978	Bruising susceptibility
OMIM:227645	FANCM	57697	HP:0001249	Intellectual disability
OMIM:227645	FANCM	57697	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	FANCM	57697	HP:0001518	Small for gestational age
OMIM:227645	FANCM	57697	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	FANCM	57697	HP:0000028	Cryptorchidism
OMIM:227645	FANCM	57697	HP:0001017	Anemic pallor
OMIM:227645	FANCM	57697	HP:0001873	Thrombocytopenia
OMIM:227645	FANCM	57697	HP:0000957	Cafe-au-lait spot
OMIM:227645	FANCM	57697	HP:0001903	Anemia
OMIM:227645	FANCM	57697	HP:0000007	Autosomal recessive inheritance
OMIM:227645	FANCM	57697	HP:0003974	Absent radius
OMIM:227645	FANCM	57697	HP:0000085	Horseshoe kidney
OMIM:227645	FANCM	57697	HP:0009778	Short thumb
OMIM:227645	FANCM	57697	HP:0000486	Strabismus
OMIM:227645	FANCM	57697	HP:0001875	Neutropenia
OMIM:227645	FANCM	57697	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	FANCM	57697	HP:0000086	Ectopic kidney
OMIM:227645	FANCM	57697	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	FANCM	57697	HP:0001876	Pancytopenia
OMIM:227645	FANCM	57697	HP:0000365	Hearing impairment
OMIM:227645	FANCM	57697	HP:0001909	Leukemia
OMIM:227645	FANCM	57697	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	FANCM	57697	HP:0000104	Renal agenesis
OMIM:227645	FANCM	57697	HP:0000252	Microcephaly
OMIM:227645	FANCM	57697	HP:0000568	Microphthalmia
OMIM:227645	FANCM	57697	HP:0009777	Absent thumb
OMIM:227645	FANCM	57697	HP:0001896	Reticulocytopenia
OMIM:227645	FANCM	57697	HP:0004322	Short stature
OMIM:227645	RAD51C	5889	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	RAD51C	5889	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	RAD51C	5889	HP:0000081	Duplicated collecting system
OMIM:227645	RAD51C	5889	HP:0000978	Bruising susceptibility
OMIM:227645	RAD51C	5889	HP:0001249	Intellectual disability
OMIM:227645	RAD51C	5889	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	RAD51C	5889	HP:0001518	Small for gestational age
OMIM:227645	RAD51C	5889	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	RAD51C	5889	HP:0000028	Cryptorchidism
OMIM:227645	RAD51C	5889	HP:0001017	Anemic pallor
OMIM:227645	RAD51C	5889	HP:0001873	Thrombocytopenia
OMIM:227645	RAD51C	5889	HP:0000957	Cafe-au-lait spot
OMIM:227645	RAD51C	5889	HP:0001903	Anemia
OMIM:227645	RAD51C	5889	HP:0000007	Autosomal recessive inheritance
OMIM:227645	RAD51C	5889	HP:0003974	Absent radius
OMIM:227645	RAD51C	5889	HP:0000085	Horseshoe kidney
OMIM:227645	RAD51C	5889	HP:0009778	Short thumb
OMIM:227645	RAD51C	5889	HP:0000486	Strabismus
OMIM:227645	RAD51C	5889	HP:0001875	Neutropenia
OMIM:227645	RAD51C	5889	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	RAD51C	5889	HP:0000086	Ectopic kidney
OMIM:227645	RAD51C	5889	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	RAD51C	5889	HP:0001876	Pancytopenia
OMIM:227645	RAD51C	5889	HP:0000365	Hearing impairment
OMIM:227645	RAD51C	5889	HP:0001909	Leukemia
OMIM:227645	RAD51C	5889	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	RAD51C	5889	HP:0000104	Renal agenesis
OMIM:227645	RAD51C	5889	HP:0000252	Microcephaly
OMIM:227645	RAD51C	5889	HP:0000568	Microphthalmia
OMIM:227645	RAD51C	5889	HP:0009777	Absent thumb
OMIM:227645	RAD51C	5889	HP:0001896	Reticulocytopenia
OMIM:227645	RAD51C	5889	HP:0004322	Short stature
OMIM:227645	UBE2T	29089	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	UBE2T	29089	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	UBE2T	29089	HP:0000081	Duplicated collecting system
OMIM:227645	UBE2T	29089	HP:0000978	Bruising susceptibility
OMIM:227645	UBE2T	29089	HP:0001249	Intellectual disability
OMIM:227645	UBE2T	29089	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	UBE2T	29089	HP:0001518	Small for gestational age
OMIM:227645	UBE2T	29089	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	UBE2T	29089	HP:0000028	Cryptorchidism
OMIM:227645	UBE2T	29089	HP:0001017	Anemic pallor
OMIM:227645	UBE2T	29089	HP:0001873	Thrombocytopenia
OMIM:227645	UBE2T	29089	HP:0000957	Cafe-au-lait spot
OMIM:227645	UBE2T	29089	HP:0001903	Anemia
OMIM:227645	UBE2T	29089	HP:0000007	Autosomal recessive inheritance
OMIM:227645	UBE2T	29089	HP:0003974	Absent radius
OMIM:227645	UBE2T	29089	HP:0000085	Horseshoe kidney
OMIM:227645	UBE2T	29089	HP:0009778	Short thumb
OMIM:227645	UBE2T	29089	HP:0000486	Strabismus
OMIM:227645	UBE2T	29089	HP:0001875	Neutropenia
OMIM:227645	UBE2T	29089	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	UBE2T	29089	HP:0000086	Ectopic kidney
OMIM:227645	UBE2T	29089	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	UBE2T	29089	HP:0001876	Pancytopenia
OMIM:227645	UBE2T	29089	HP:0000365	Hearing impairment
OMIM:227645	UBE2T	29089	HP:0001909	Leukemia
OMIM:227645	UBE2T	29089	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	UBE2T	29089	HP:0000104	Renal agenesis
OMIM:227645	UBE2T	29089	HP:0000252	Microcephaly
OMIM:227645	UBE2T	29089	HP:0000568	Microphthalmia
OMIM:227645	UBE2T	29089	HP:0009777	Absent thumb
OMIM:227645	UBE2T	29089	HP:0001896	Reticulocytopenia
OMIM:227645	UBE2T	29089	HP:0004322	Short stature
OMIM:227645	FANCE	2178	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	FANCE	2178	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	FANCE	2178	HP:0000081	Duplicated collecting system
OMIM:227645	FANCE	2178	HP:0000978	Bruising susceptibility
OMIM:227645	FANCE	2178	HP:0001249	Intellectual disability
OMIM:227645	FANCE	2178	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	FANCE	2178	HP:0001518	Small for gestational age
OMIM:227645	FANCE	2178	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	FANCE	2178	HP:0000028	Cryptorchidism
OMIM:227645	FANCE	2178	HP:0001017	Anemic pallor
OMIM:227645	FANCE	2178	HP:0001873	Thrombocytopenia
OMIM:227645	FANCE	2178	HP:0000957	Cafe-au-lait spot
OMIM:227645	FANCE	2178	HP:0001903	Anemia
OMIM:227645	FANCE	2178	HP:0000007	Autosomal recessive inheritance
OMIM:227645	FANCE	2178	HP:0003974	Absent radius
OMIM:227645	FANCE	2178	HP:0000085	Horseshoe kidney
OMIM:227645	FANCE	2178	HP:0009778	Short thumb
OMIM:227645	FANCE	2178	HP:0000486	Strabismus
OMIM:227645	FANCE	2178	HP:0001875	Neutropenia
OMIM:227645	FANCE	2178	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	FANCE	2178	HP:0000086	Ectopic kidney
OMIM:227645	FANCE	2178	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	FANCE	2178	HP:0001876	Pancytopenia
OMIM:227645	FANCE	2178	HP:0000365	Hearing impairment
OMIM:227645	FANCE	2178	HP:0001909	Leukemia
OMIM:227645	FANCE	2178	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	FANCE	2178	HP:0000104	Renal agenesis
OMIM:227645	FANCE	2178	HP:0000252	Microcephaly
OMIM:227645	FANCE	2178	HP:0000568	Microphthalmia
OMIM:227645	FANCE	2178	HP:0009777	Absent thumb
OMIM:227645	FANCE	2178	HP:0001896	Reticulocytopenia
OMIM:227645	FANCE	2178	HP:0004322	Short stature
OMIM:227645	BRCA2	675	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	BRCA2	675	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	BRCA2	675	HP:0000081	Duplicated collecting system
OMIM:227645	BRCA2	675	HP:0000978	Bruising susceptibility
OMIM:227645	BRCA2	675	HP:0001249	Intellectual disability
OMIM:227645	BRCA2	675	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	BRCA2	675	HP:0001518	Small for gestational age
OMIM:227645	BRCA2	675	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	BRCA2	675	HP:0000028	Cryptorchidism
OMIM:227645	BRCA2	675	HP:0001017	Anemic pallor
OMIM:227645	BRCA2	675	HP:0001873	Thrombocytopenia
OMIM:227645	BRCA2	675	HP:0000957	Cafe-au-lait spot
OMIM:227645	BRCA2	675	HP:0001903	Anemia
OMIM:227645	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:227645	BRCA2	675	HP:0003974	Absent radius
OMIM:227645	BRCA2	675	HP:0000085	Horseshoe kidney
OMIM:227645	BRCA2	675	HP:0009778	Short thumb
OMIM:227645	BRCA2	675	HP:0000486	Strabismus
OMIM:227645	BRCA2	675	HP:0001875	Neutropenia
OMIM:227645	BRCA2	675	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	BRCA2	675	HP:0000086	Ectopic kidney
OMIM:227645	BRCA2	675	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	BRCA2	675	HP:0001876	Pancytopenia
OMIM:227645	BRCA2	675	HP:0000365	Hearing impairment
OMIM:227645	BRCA2	675	HP:0001909	Leukemia
OMIM:227645	BRCA2	675	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	BRCA2	675	HP:0000104	Renal agenesis
OMIM:227645	BRCA2	675	HP:0000252	Microcephaly
OMIM:227645	BRCA2	675	HP:0000568	Microphthalmia
OMIM:227645	BRCA2	675	HP:0009777	Absent thumb
OMIM:227645	BRCA2	675	HP:0001896	Reticulocytopenia
OMIM:227645	BRCA2	675	HP:0004322	Short stature
OMIM:227645	FANCB	2187	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	FANCB	2187	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	FANCB	2187	HP:0000081	Duplicated collecting system
OMIM:227645	FANCB	2187	HP:0000978	Bruising susceptibility
OMIM:227645	FANCB	2187	HP:0001249	Intellectual disability
OMIM:227645	FANCB	2187	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	FANCB	2187	HP:0001518	Small for gestational age
OMIM:227645	FANCB	2187	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	FANCB	2187	HP:0000028	Cryptorchidism
OMIM:227645	FANCB	2187	HP:0001017	Anemic pallor
OMIM:227645	FANCB	2187	HP:0001873	Thrombocytopenia
OMIM:227645	FANCB	2187	HP:0000957	Cafe-au-lait spot
OMIM:227645	FANCB	2187	HP:0001903	Anemia
OMIM:227645	FANCB	2187	HP:0000007	Autosomal recessive inheritance
OMIM:227645	FANCB	2187	HP:0003974	Absent radius
OMIM:227645	FANCB	2187	HP:0000085	Horseshoe kidney
OMIM:227645	FANCB	2187	HP:0009778	Short thumb
OMIM:227645	FANCB	2187	HP:0000486	Strabismus
OMIM:227645	FANCB	2187	HP:0001875	Neutropenia
OMIM:227645	FANCB	2187	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	FANCB	2187	HP:0000086	Ectopic kidney
OMIM:227645	FANCB	2187	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	FANCB	2187	HP:0001876	Pancytopenia
OMIM:227645	FANCB	2187	HP:0000365	Hearing impairment
OMIM:227645	FANCB	2187	HP:0001909	Leukemia
OMIM:227645	FANCB	2187	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	FANCB	2187	HP:0000104	Renal agenesis
OMIM:227645	FANCB	2187	HP:0000252	Microcephaly
OMIM:227645	FANCB	2187	HP:0000568	Microphthalmia
OMIM:227645	FANCB	2187	HP:0009777	Absent thumb
OMIM:227645	FANCB	2187	HP:0001896	Reticulocytopenia
OMIM:227645	FANCB	2187	HP:0004322	Short stature
OMIM:227645	FANCF	2188	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	FANCF	2188	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	FANCF	2188	HP:0000081	Duplicated collecting system
OMIM:227645	FANCF	2188	HP:0000978	Bruising susceptibility
OMIM:227645	FANCF	2188	HP:0001249	Intellectual disability
OMIM:227645	FANCF	2188	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	FANCF	2188	HP:0001518	Small for gestational age
OMIM:227645	FANCF	2188	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	FANCF	2188	HP:0000028	Cryptorchidism
OMIM:227645	FANCF	2188	HP:0001017	Anemic pallor
OMIM:227645	FANCF	2188	HP:0001873	Thrombocytopenia
OMIM:227645	FANCF	2188	HP:0000957	Cafe-au-lait spot
OMIM:227645	FANCF	2188	HP:0001903	Anemia
OMIM:227645	FANCF	2188	HP:0000007	Autosomal recessive inheritance
OMIM:227645	FANCF	2188	HP:0003974	Absent radius
OMIM:227645	FANCF	2188	HP:0000085	Horseshoe kidney
OMIM:227645	FANCF	2188	HP:0009778	Short thumb
OMIM:227645	FANCF	2188	HP:0000486	Strabismus
OMIM:227645	FANCF	2188	HP:0001875	Neutropenia
OMIM:227645	FANCF	2188	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	FANCF	2188	HP:0000086	Ectopic kidney
OMIM:227645	FANCF	2188	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	FANCF	2188	HP:0001876	Pancytopenia
OMIM:227645	FANCF	2188	HP:0000365	Hearing impairment
OMIM:227645	FANCF	2188	HP:0001909	Leukemia
OMIM:227645	FANCF	2188	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	FANCF	2188	HP:0000104	Renal agenesis
OMIM:227645	FANCF	2188	HP:0000252	Microcephaly
OMIM:227645	FANCF	2188	HP:0000568	Microphthalmia
OMIM:227645	FANCF	2188	HP:0009777	Absent thumb
OMIM:227645	FANCF	2188	HP:0001896	Reticulocytopenia
OMIM:227645	FANCF	2188	HP:0004322	Short stature
OMIM:227645	FANCG	2189	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	FANCG	2189	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	FANCG	2189	HP:0000081	Duplicated collecting system
OMIM:227645	FANCG	2189	HP:0000978	Bruising susceptibility
OMIM:227645	FANCG	2189	HP:0001249	Intellectual disability
OMIM:227645	FANCG	2189	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	FANCG	2189	HP:0001518	Small for gestational age
OMIM:227645	FANCG	2189	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	FANCG	2189	HP:0000028	Cryptorchidism
OMIM:227645	FANCG	2189	HP:0001017	Anemic pallor
OMIM:227645	FANCG	2189	HP:0001873	Thrombocytopenia
OMIM:227645	FANCG	2189	HP:0000957	Cafe-au-lait spot
OMIM:227645	FANCG	2189	HP:0001903	Anemia
OMIM:227645	FANCG	2189	HP:0000007	Autosomal recessive inheritance
OMIM:227645	FANCG	2189	HP:0003974	Absent radius
OMIM:227645	FANCG	2189	HP:0000085	Horseshoe kidney
OMIM:227645	FANCG	2189	HP:0009778	Short thumb
OMIM:227645	FANCG	2189	HP:0000486	Strabismus
OMIM:227645	FANCG	2189	HP:0001875	Neutropenia
OMIM:227645	FANCG	2189	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	FANCG	2189	HP:0000086	Ectopic kidney
OMIM:227645	FANCG	2189	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	FANCG	2189	HP:0001876	Pancytopenia
OMIM:227645	FANCG	2189	HP:0000365	Hearing impairment
OMIM:227645	FANCG	2189	HP:0001909	Leukemia
OMIM:227645	FANCG	2189	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	FANCG	2189	HP:0000104	Renal agenesis
OMIM:227645	FANCG	2189	HP:0000252	Microcephaly
OMIM:227645	FANCG	2189	HP:0000568	Microphthalmia
OMIM:227645	FANCG	2189	HP:0009777	Absent thumb
OMIM:227645	FANCG	2189	HP:0001896	Reticulocytopenia
OMIM:227645	FANCG	2189	HP:0004322	Short stature
OMIM:227645	FANCI	55215	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	FANCI	55215	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	FANCI	55215	HP:0000081	Duplicated collecting system
OMIM:227645	FANCI	55215	HP:0000978	Bruising susceptibility
OMIM:227645	FANCI	55215	HP:0001249	Intellectual disability
OMIM:227645	FANCI	55215	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	FANCI	55215	HP:0001518	Small for gestational age
OMIM:227645	FANCI	55215	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	FANCI	55215	HP:0000028	Cryptorchidism
OMIM:227645	FANCI	55215	HP:0001017	Anemic pallor
OMIM:227645	FANCI	55215	HP:0001873	Thrombocytopenia
OMIM:227645	FANCI	55215	HP:0000957	Cafe-au-lait spot
OMIM:227645	FANCI	55215	HP:0001903	Anemia
OMIM:227645	FANCI	55215	HP:0000007	Autosomal recessive inheritance
OMIM:227645	FANCI	55215	HP:0003974	Absent radius
OMIM:227645	FANCI	55215	HP:0000085	Horseshoe kidney
OMIM:227645	FANCI	55215	HP:0009778	Short thumb
OMIM:227645	FANCI	55215	HP:0000486	Strabismus
OMIM:227645	FANCI	55215	HP:0001875	Neutropenia
OMIM:227645	FANCI	55215	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	FANCI	55215	HP:0000086	Ectopic kidney
OMIM:227645	FANCI	55215	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	FANCI	55215	HP:0001876	Pancytopenia
OMIM:227645	FANCI	55215	HP:0000365	Hearing impairment
OMIM:227645	FANCI	55215	HP:0001909	Leukemia
OMIM:227645	FANCI	55215	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	FANCI	55215	HP:0000104	Renal agenesis
OMIM:227645	FANCI	55215	HP:0000252	Microcephaly
OMIM:227645	FANCI	55215	HP:0000568	Microphthalmia
OMIM:227645	FANCI	55215	HP:0009777	Absent thumb
OMIM:227645	FANCI	55215	HP:0001896	Reticulocytopenia
OMIM:227645	FANCI	55215	HP:0004322	Short stature
OMIM:227645	FANCL	55120	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	FANCL	55120	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	FANCL	55120	HP:0000081	Duplicated collecting system
OMIM:227645	FANCL	55120	HP:0000978	Bruising susceptibility
OMIM:227645	FANCL	55120	HP:0001249	Intellectual disability
OMIM:227645	FANCL	55120	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	FANCL	55120	HP:0001518	Small for gestational age
OMIM:227645	FANCL	55120	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	FANCL	55120	HP:0000028	Cryptorchidism
OMIM:227645	FANCL	55120	HP:0001017	Anemic pallor
OMIM:227645	FANCL	55120	HP:0001873	Thrombocytopenia
OMIM:227645	FANCL	55120	HP:0000957	Cafe-au-lait spot
OMIM:227645	FANCL	55120	HP:0001903	Anemia
OMIM:227645	FANCL	55120	HP:0000007	Autosomal recessive inheritance
OMIM:227645	FANCL	55120	HP:0003974	Absent radius
OMIM:227645	FANCL	55120	HP:0000085	Horseshoe kidney
OMIM:227645	FANCL	55120	HP:0009778	Short thumb
OMIM:227645	FANCL	55120	HP:0000486	Strabismus
OMIM:227645	FANCL	55120	HP:0001875	Neutropenia
OMIM:227645	FANCL	55120	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	FANCL	55120	HP:0000086	Ectopic kidney
OMIM:227645	FANCL	55120	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	FANCL	55120	HP:0001876	Pancytopenia
OMIM:227645	FANCL	55120	HP:0000365	Hearing impairment
OMIM:227645	FANCL	55120	HP:0001909	Leukemia
OMIM:227645	FANCL	55120	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	FANCL	55120	HP:0000104	Renal agenesis
OMIM:227645	FANCL	55120	HP:0000252	Microcephaly
OMIM:227645	FANCL	55120	HP:0000568	Microphthalmia
OMIM:227645	FANCL	55120	HP:0009777	Absent thumb
OMIM:227645	FANCL	55120	HP:0001896	Reticulocytopenia
OMIM:227645	FANCL	55120	HP:0004322	Short stature
OMIM:227645	PALB2	79728	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	PALB2	79728	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	PALB2	79728	HP:0000081	Duplicated collecting system
OMIM:227645	PALB2	79728	HP:0000978	Bruising susceptibility
OMIM:227645	PALB2	79728	HP:0001249	Intellectual disability
OMIM:227645	PALB2	79728	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	PALB2	79728	HP:0001518	Small for gestational age
OMIM:227645	PALB2	79728	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	PALB2	79728	HP:0000028	Cryptorchidism
OMIM:227645	PALB2	79728	HP:0001017	Anemic pallor
OMIM:227645	PALB2	79728	HP:0001873	Thrombocytopenia
OMIM:227645	PALB2	79728	HP:0000957	Cafe-au-lait spot
OMIM:227645	PALB2	79728	HP:0001903	Anemia
OMIM:227645	PALB2	79728	HP:0000007	Autosomal recessive inheritance
OMIM:227645	PALB2	79728	HP:0003974	Absent radius
OMIM:227645	PALB2	79728	HP:0000085	Horseshoe kidney
OMIM:227645	PALB2	79728	HP:0009778	Short thumb
OMIM:227645	PALB2	79728	HP:0000486	Strabismus
OMIM:227645	PALB2	79728	HP:0001875	Neutropenia
OMIM:227645	PALB2	79728	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	PALB2	79728	HP:0000086	Ectopic kidney
OMIM:227645	PALB2	79728	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	PALB2	79728	HP:0001876	Pancytopenia
OMIM:227645	PALB2	79728	HP:0000365	Hearing impairment
OMIM:227645	PALB2	79728	HP:0001909	Leukemia
OMIM:227645	PALB2	79728	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	PALB2	79728	HP:0000104	Renal agenesis
OMIM:227645	PALB2	79728	HP:0000252	Microcephaly
OMIM:227645	PALB2	79728	HP:0000568	Microphthalmia
OMIM:227645	PALB2	79728	HP:0009777	Absent thumb
OMIM:227645	PALB2	79728	HP:0001896	Reticulocytopenia
OMIM:227645	PALB2	79728	HP:0004322	Short stature
OMIM:227645	SLX4	84464	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	SLX4	84464	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	SLX4	84464	HP:0000081	Duplicated collecting system
OMIM:227645	SLX4	84464	HP:0000978	Bruising susceptibility
OMIM:227645	SLX4	84464	HP:0001249	Intellectual disability
OMIM:227645	SLX4	84464	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	SLX4	84464	HP:0001518	Small for gestational age
OMIM:227645	SLX4	84464	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	SLX4	84464	HP:0000028	Cryptorchidism
OMIM:227645	SLX4	84464	HP:0001017	Anemic pallor
OMIM:227645	SLX4	84464	HP:0001873	Thrombocytopenia
OMIM:227645	SLX4	84464	HP:0000957	Cafe-au-lait spot
OMIM:227645	SLX4	84464	HP:0001903	Anemia
OMIM:227645	SLX4	84464	HP:0000007	Autosomal recessive inheritance
OMIM:227645	SLX4	84464	HP:0003974	Absent radius
OMIM:227645	SLX4	84464	HP:0000085	Horseshoe kidney
OMIM:227645	SLX4	84464	HP:0009778	Short thumb
OMIM:227645	SLX4	84464	HP:0000486	Strabismus
OMIM:227645	SLX4	84464	HP:0001875	Neutropenia
OMIM:227645	SLX4	84464	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	SLX4	84464	HP:0000086	Ectopic kidney
OMIM:227645	SLX4	84464	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	SLX4	84464	HP:0001876	Pancytopenia
OMIM:227645	SLX4	84464	HP:0000365	Hearing impairment
OMIM:227645	SLX4	84464	HP:0001909	Leukemia
OMIM:227645	SLX4	84464	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	SLX4	84464	HP:0000104	Renal agenesis
OMIM:227645	SLX4	84464	HP:0000252	Microcephaly
OMIM:227645	SLX4	84464	HP:0000568	Microphthalmia
OMIM:227645	SLX4	84464	HP:0009777	Absent thumb
OMIM:227645	SLX4	84464	HP:0001896	Reticulocytopenia
OMIM:227645	SLX4	84464	HP:0004322	Short stature
OMIM:227645	BRIP1	83990	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	BRIP1	83990	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	BRIP1	83990	HP:0000081	Duplicated collecting system
OMIM:227645	BRIP1	83990	HP:0000978	Bruising susceptibility
OMIM:227645	BRIP1	83990	HP:0001249	Intellectual disability
OMIM:227645	BRIP1	83990	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	BRIP1	83990	HP:0001518	Small for gestational age
OMIM:227645	BRIP1	83990	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	BRIP1	83990	HP:0000028	Cryptorchidism
OMIM:227645	BRIP1	83990	HP:0001017	Anemic pallor
OMIM:227645	BRIP1	83990	HP:0001873	Thrombocytopenia
OMIM:227645	BRIP1	83990	HP:0000957	Cafe-au-lait spot
OMIM:227645	BRIP1	83990	HP:0001903	Anemia
OMIM:227645	BRIP1	83990	HP:0000007	Autosomal recessive inheritance
OMIM:227645	BRIP1	83990	HP:0003974	Absent radius
OMIM:227645	BRIP1	83990	HP:0000085	Horseshoe kidney
OMIM:227645	BRIP1	83990	HP:0009778	Short thumb
OMIM:227645	BRIP1	83990	HP:0000486	Strabismus
OMIM:227645	BRIP1	83990	HP:0001875	Neutropenia
OMIM:227645	BRIP1	83990	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	BRIP1	83990	HP:0000086	Ectopic kidney
OMIM:227645	BRIP1	83990	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	BRIP1	83990	HP:0001876	Pancytopenia
OMIM:227645	BRIP1	83990	HP:0000365	Hearing impairment
OMIM:227645	BRIP1	83990	HP:0001909	Leukemia
OMIM:227645	BRIP1	83990	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	BRIP1	83990	HP:0000104	Renal agenesis
OMIM:227645	BRIP1	83990	HP:0000252	Microcephaly
OMIM:227645	BRIP1	83990	HP:0000568	Microphthalmia
OMIM:227645	BRIP1	83990	HP:0009777	Absent thumb
OMIM:227645	BRIP1	83990	HP:0001896	Reticulocytopenia
OMIM:227645	BRIP1	83990	HP:0004322	Short stature
OMIM:227645	ERCC4	2072	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	ERCC4	2072	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	ERCC4	2072	HP:0000081	Duplicated collecting system
OMIM:227645	ERCC4	2072	HP:0000978	Bruising susceptibility
OMIM:227645	ERCC4	2072	HP:0001249	Intellectual disability
OMIM:227645	ERCC4	2072	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	ERCC4	2072	HP:0001518	Small for gestational age
OMIM:227645	ERCC4	2072	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	ERCC4	2072	HP:0000028	Cryptorchidism
OMIM:227645	ERCC4	2072	HP:0001017	Anemic pallor
OMIM:227645	ERCC4	2072	HP:0001873	Thrombocytopenia
OMIM:227645	ERCC4	2072	HP:0000957	Cafe-au-lait spot
OMIM:227645	ERCC4	2072	HP:0001903	Anemia
OMIM:227645	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:227645	ERCC4	2072	HP:0003974	Absent radius
OMIM:227645	ERCC4	2072	HP:0000085	Horseshoe kidney
OMIM:227645	ERCC4	2072	HP:0009778	Short thumb
OMIM:227645	ERCC4	2072	HP:0000486	Strabismus
OMIM:227645	ERCC4	2072	HP:0001875	Neutropenia
OMIM:227645	ERCC4	2072	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	ERCC4	2072	HP:0000086	Ectopic kidney
OMIM:227645	ERCC4	2072	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	ERCC4	2072	HP:0001876	Pancytopenia
OMIM:227645	ERCC4	2072	HP:0000365	Hearing impairment
OMIM:227645	ERCC4	2072	HP:0001909	Leukemia
OMIM:227645	ERCC4	2072	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	ERCC4	2072	HP:0000104	Renal agenesis
OMIM:227645	ERCC4	2072	HP:0000252	Microcephaly
OMIM:227645	ERCC4	2072	HP:0000568	Microphthalmia
OMIM:227645	ERCC4	2072	HP:0009777	Absent thumb
OMIM:227645	ERCC4	2072	HP:0001896	Reticulocytopenia
OMIM:227645	ERCC4	2072	HP:0004322	Short stature
OMIM:227645	FANCA	2175	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227645	FANCA	2175	HP:0009943	Complete duplication of thumb phalanx
OMIM:227645	FANCA	2175	HP:0000081	Duplicated collecting system
OMIM:227645	FANCA	2175	HP:0000978	Bruising susceptibility
OMIM:227645	FANCA	2175	HP:0001249	Intellectual disability
OMIM:227645	FANCA	2175	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227645	FANCA	2175	HP:0001518	Small for gestational age
OMIM:227645	FANCA	2175	HP:0001000	Abnormality of skin pigmentation
OMIM:227645	FANCA	2175	HP:0000028	Cryptorchidism
OMIM:227645	FANCA	2175	HP:0001017	Anemic pallor
OMIM:227645	FANCA	2175	HP:0001873	Thrombocytopenia
OMIM:227645	FANCA	2175	HP:0000957	Cafe-au-lait spot
OMIM:227645	FANCA	2175	HP:0001903	Anemia
OMIM:227645	FANCA	2175	HP:0000007	Autosomal recessive inheritance
OMIM:227645	FANCA	2175	HP:0003974	Absent radius
OMIM:227645	FANCA	2175	HP:0000085	Horseshoe kidney
OMIM:227645	FANCA	2175	HP:0009778	Short thumb
OMIM:227645	FANCA	2175	HP:0000486	Strabismus
OMIM:227645	FANCA	2175	HP:0001875	Neutropenia
OMIM:227645	FANCA	2175	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227645	FANCA	2175	HP:0000086	Ectopic kidney
OMIM:227645	FANCA	2175	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227645	FANCA	2175	HP:0001876	Pancytopenia
OMIM:227645	FANCA	2175	HP:0000365	Hearing impairment
OMIM:227645	FANCA	2175	HP:0001909	Leukemia
OMIM:227645	FANCA	2175	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227645	FANCA	2175	HP:0000104	Renal agenesis
OMIM:227645	FANCA	2175	HP:0000252	Microcephaly
OMIM:227645	FANCA	2175	HP:0000568	Microphthalmia
OMIM:227645	FANCA	2175	HP:0009777	Absent thumb
OMIM:227645	FANCA	2175	HP:0001896	Reticulocytopenia
OMIM:227645	FANCA	2175	HP:0004322	Short stature
OMIM:614434	FBLN5	10516	HP:0100678	Premature skin wrinkling
OMIM:614434	FBLN5	10516	HP:0002650	Scoliosis
OMIM:614434	FBLN5	10516	HP:0001653	Mitral regurgitation
OMIM:614434	FBLN5	10516	HP:0000973	Cutis laxa
OMIM:614434	FBLN5	10516	HP:0000006	Autosomal dominant inheritance
OMIM:614434	ELN	2006	HP:0100678	Premature skin wrinkling
OMIM:614434	ELN	2006	HP:0002650	Scoliosis
OMIM:614434	ELN	2006	HP:0001653	Mitral regurgitation
OMIM:614434	ELN	2006	HP:0000973	Cutis laxa
OMIM:614434	ELN	2006	HP:0000006	Autosomal dominant inheritance
OMIM:614434	ALDH18A1	5832	HP:0100678	Premature skin wrinkling
OMIM:614434	ALDH18A1	5832	HP:0002650	Scoliosis
OMIM:614434	ALDH18A1	5832	HP:0001653	Mitral regurgitation
OMIM:614434	ALDH18A1	5832	HP:0000973	Cutis laxa
OMIM:614434	ALDH18A1	5832	HP:0000006	Autosomal dominant inheritance
OMIM:613286	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:613286	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:613286	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613286	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:613286	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613286	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:613286	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613286	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:613286	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:613286	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:613286	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613286	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:613286	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:613286	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:613286	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:613286	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:613286	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613286	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:613286	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:613286	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:613286	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:613286	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:613286	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:613286	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:613286	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613286	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:613286	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:613286	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:613286	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:613286	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:613286	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:613286	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:613286	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:613286	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:613286	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:613286	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:613286	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:613286	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:613286	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:614172	GATA2	2624	HP:0003812	Phenotypic variability
OMIM:614172	GATA2	2624	HP:0004429	Recurrent viral infections
OMIM:614172	GATA2	2624	HP:0000006	Autosomal dominant inheritance
OMIM:614172	GATA2	2624	HP:0002721	Immunodeficiency
OMIM:614172	GATA2	2624	HP:0002841	Recurrent fungal infections
OMIM:614172	GATA2	2624	HP:0001875	Neutropenia
OMIM:614172	GATA2	2624	HP:0001915	Aplastic anemia
OMIM:614028	APOC3	345	HP:0003563	Hypobetalipoproteinemia
OMIM:614028	CETP	1071	HP:0003563	Hypobetalipoproteinemia
OMIM:616108	RDH11	51109	HP:0000687	Widely spaced teeth
OMIM:616108	RDH11	51109	HP:0001263	Global developmental delay
OMIM:616108	RDH11	51109	HP:0000689	Dental malocclusion
OMIM:616108	RDH11	51109	HP:0004322	Short stature
OMIM:616108	RDH11	51109	HP:0000582	Upslanted palpebral fissure
OMIM:616108	RDH11	51109	HP:0000272	Malar flattening
OMIM:616108	RDH11	51109	HP:0000556	Retinal dystrophy
OMIM:616268	KAT6A	7994	HP:0000486	Strabismus
OMIM:616268	KAT6A	7994	HP:0002098	Respiratory distress
OMIM:616268	KAT6A	7994	HP:0002714	Downturned corners of mouth
OMIM:616268	KAT6A	7994	HP:0000455	Broad nasal tip
OMIM:616268	KAT6A	7994	HP:0001357	Plagiocephaly
OMIM:616268	KAT6A	7994	HP:0000308	Microretrognathia
OMIM:616268	KAT6A	7994	HP:0001250	Seizures
OMIM:616268	KAT6A	7994	HP:0001631	Atria septal defect
OMIM:616268	KAT6A	7994	HP:0000164	Abnormality of the teeth
OMIM:616268	KAT6A	7994	HP:0000508	Ptosis
OMIM:616268	KAT6A	7994	HP:0000286	Epicanthus
OMIM:616268	KAT6A	7994	HP:0100704	Cortical visual impairment
OMIM:616268	KAT6A	7994	HP:0000358	Posteriorly rotated ears
OMIM:616268	KAT6A	7994	HP:0000219	Thin upper lip vermilion
OMIM:616268	KAT6A	7994	HP:0000369	Low-set ears
OMIM:616268	KAT6A	7994	HP:0011968	Feeding difficulties
OMIM:616268	KAT6A	7994	HP:0000341	Narrow forehead
OMIM:616268	KAT6A	7994	HP:0001643	Patent ductus arteriosus
OMIM:616268	KAT6A	7994	HP:0000252	Microcephaly
OMIM:616268	KAT6A	7994	HP:0001252	Muscular hypotonia
OMIM:616268	KAT6A	7994	HP:0001249	Intellectual disability
OMIM:616268	KAT6A	7994	HP:0000426	Prominent nasal bridge
OMIM:616268	KAT6A	7994	HP:0001363	Craniosynostosis
OMIM:616268	KAT6A	7994	HP:0001629	Ventricular septal defect
OMIM:616268	KAT6A	7994	HP:0001263	Global developmental delay
OMIM:615605	SLC34A1	6569	HP:0003355	Aminoaciduria
OMIM:615605	SLC34A1	6569	HP:0001942	Metabolic acidosis
OMIM:615605	SLC34A1	6569	HP:0003828	Variable expressivity
OMIM:615605	SLC34A1	6569	HP:0000093	Proteinuria
OMIM:615605	SLC34A1	6569	HP:0002979	Bowing of the legs
OMIM:615605	SLC34A1	6569	HP:0004322	Short stature
OMIM:615605	SLC34A1	6569	HP:0000006	Autosomal dominant inheritance
OMIM:615605	EHHADH	1962	HP:0003355	Aminoaciduria
OMIM:615605	EHHADH	1962	HP:0001942	Metabolic acidosis
OMIM:615605	EHHADH	1962	HP:0003828	Variable expressivity
OMIM:615605	EHHADH	1962	HP:0000093	Proteinuria
OMIM:615605	EHHADH	1962	HP:0002979	Bowing of the legs
OMIM:615605	EHHADH	1962	HP:0004322	Short stature
OMIM:615605	EHHADH	1962	HP:0000006	Autosomal dominant inheritance
OMIM:614863	PEX19	5824	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX19	5824	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX19	5824	HP:0000505	Visual impairment
OMIM:614863	PEX19	5824	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX19	5824	HP:0001251	Ataxia
OMIM:614863	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX19	5824	HP:0001263	Global developmental delay
OMIM:614863	PEX16	9409	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX16	9409	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX16	9409	HP:0000505	Visual impairment
OMIM:614863	PEX16	9409	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX16	9409	HP:0001251	Ataxia
OMIM:614863	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX16	9409	HP:0001263	Global developmental delay
OMIM:614863	PEX2	5828	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX2	5828	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX2	5828	HP:0000505	Visual impairment
OMIM:614863	PEX2	5828	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX2	5828	HP:0001251	Ataxia
OMIM:614863	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX2	5828	HP:0001263	Global developmental delay
OMIM:614863	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX1	5189	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX1	5189	HP:0000505	Visual impairment
OMIM:614863	PEX1	5189	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX1	5189	HP:0001251	Ataxia
OMIM:614863	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX1	5189	HP:0001263	Global developmental delay
OMIM:614863	PEX6	5190	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX6	5190	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX6	5190	HP:0000505	Visual impairment
OMIM:614863	PEX6	5190	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX6	5190	HP:0001251	Ataxia
OMIM:614863	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX6	5190	HP:0001263	Global developmental delay
OMIM:614863	PEX5	5830	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX5	5830	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX5	5830	HP:0000505	Visual impairment
OMIM:614863	PEX5	5830	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX5	5830	HP:0001251	Ataxia
OMIM:614863	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX5	5830	HP:0001263	Global developmental delay
OMIM:614863	PEX10	5192	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX10	5192	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX10	5192	HP:0000505	Visual impairment
OMIM:614863	PEX10	5192	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX10	5192	HP:0001251	Ataxia
OMIM:614863	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX10	5192	HP:0001263	Global developmental delay
OMIM:614863	PEX12	5193	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX12	5193	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX12	5193	HP:0000505	Visual impairment
OMIM:614863	PEX12	5193	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX12	5193	HP:0001251	Ataxia
OMIM:614863	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX12	5193	HP:0001263	Global developmental delay
OMIM:614863	PEX13	5194	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX13	5194	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX13	5194	HP:0000505	Visual impairment
OMIM:614863	PEX13	5194	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX13	5194	HP:0001251	Ataxia
OMIM:614863	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX13	5194	HP:0001263	Global developmental delay
OMIM:614863	PEX14	5195	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX14	5195	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX14	5195	HP:0000505	Visual impairment
OMIM:614863	PEX14	5195	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX14	5195	HP:0001251	Ataxia
OMIM:614863	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX14	5195	HP:0001263	Global developmental delay
OMIM:614863	PEX26	55670	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX26	55670	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX26	55670	HP:0000505	Visual impairment
OMIM:614863	PEX26	55670	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX26	55670	HP:0001251	Ataxia
OMIM:614863	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX26	55670	HP:0001263	Global developmental delay
OMIM:614863	PEX3	8504	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX3	8504	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX3	8504	HP:0000505	Visual impairment
OMIM:614863	PEX3	8504	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX3	8504	HP:0001251	Ataxia
OMIM:614863	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX3	8504	HP:0001263	Global developmental delay
OMIM:614863	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
OMIM:614863	PEX11B	8799	HP:0000510	Rod-cone dystrophy
OMIM:614863	PEX11B	8799	HP:0000505	Visual impairment
OMIM:614863	PEX11B	8799	HP:0001319	Neonatal hypotonia
OMIM:614863	PEX11B	8799	HP:0001251	Ataxia
OMIM:614863	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614863	PEX11B	8799	HP:0001263	Global developmental delay
OMIM:614457	ELOVL4	6785	HP:0008064	Ichthyosis
OMIM:614457	ELOVL4	6785	HP:0002123	Generalized myoclonic seizures
OMIM:614457	ELOVL4	6785	HP:0000649	Abnormality of visual evoked potentials
OMIM:614457	ELOVL4	6785	HP:0011003	Severe Myopia
OMIM:614457	ELOVL4	6785	HP:0000023	Inguinal hernia
OMIM:614457	ELOVL4	6785	HP:0002187	Intellectual disability, profound
OMIM:614457	ELOVL4	6785	HP:0000962	Hyperkeratosis
OMIM:614457	ELOVL4	6785	HP:0000007	Autosomal recessive inheritance
OMIM:614457	ELOVL4	6785	HP:0001371	Flexion contracture
OMIM:614457	ELOVL4	6785	HP:0002099	Asthma
OMIM:614457	ELOVL4	6785	HP:0003577	Congenital onset
OMIM:614457	ELOVL4	6785	HP:0001263	Global developmental delay
OMIM:614457	ELOVL4	6785	HP:0000958	Dry skin
OMIM:614457	ELOVL4	6785	HP:0000252	Microcephaly
OMIM:614457	ELOVL4	6785	HP:0002510	Spastic tetraplegia
OMIM:614457	ELOVL4	6785	HP:0040189	Scaling skin
OMIM:614457	ELOVL4	6785	HP:0012444	Brain atrophy
OMIM:614457	ELOVL4	6785	HP:0012448	Delayed myelination
OMIM:614457	ELOVL4	6785	HP:0001510	Growth delay
OMIM:300614	AIFM1	9131	HP:0002936	Distal sensory impairment
OMIM:300614	AIFM1	9131	HP:0001963	Abnormal speech discrimination
OMIM:300614	AIFM1	9131	HP:0001419	X-linked recessive inheritance
OMIM:300614	AIFM1	9131	HP:0000365	Hearing impairment
OMIM:300614	AIFM1	9131	HP:0004454	Abnormal middle ear reflexes
OMIM:108770	SCN5A	6331	HP:0001706	Endocardial fibroelastosis
OMIM:108770	SCN5A	6331	HP:0011705	First degree atrioventricular block
OMIM:108770	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:108770	GJA5	2702	HP:0001706	Endocardial fibroelastosis
OMIM:108770	GJA5	2702	HP:0011705	First degree atrioventricular block
OMIM:108770	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:108770	NPPA	4878	HP:0001706	Endocardial fibroelastosis
OMIM:108770	NPPA	4878	HP:0011705	First degree atrioventricular block
OMIM:108770	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:612783	STIM1	6786	HP:0003198	Myopathy
OMIM:612783	STIM1	6786	HP:0001252	Muscular hypotonia
OMIM:612783	STIM1	6786	HP:0002718	Recurrent bacterial infections
OMIM:612783	STIM1	6786	HP:0002721	Immunodeficiency
OMIM:612783	STIM1	6786	HP:0002716	Lymphadenopathy
OMIM:612783	STIM1	6786	HP:0001873	Thrombocytopenia
OMIM:612783	STIM1	6786	HP:0000007	Autosomal recessive inheritance
OMIM:615373	TPM1	7168	HP:0011675	Arrhythmia
OMIM:615373	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:615373	TPM1	7168	HP:0001711	Abnormality of the left ventricle
OMIM:615373	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:615373	TPM1	7168	HP:0001653	Mitral regurgitation
OMIM:615373	CRYAB	1410	HP:0011675	Arrhythmia
OMIM:615373	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:615373	CRYAB	1410	HP:0001711	Abnormality of the left ventricle
OMIM:615373	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:615373	CRYAB	1410	HP:0001653	Mitral regurgitation
OMIM:615373	ACTC1	70	HP:0011675	Arrhythmia
OMIM:615373	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:615373	ACTC1	70	HP:0001711	Abnormality of the left ventricle
OMIM:615373	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:615373	ACTC1	70	HP:0001653	Mitral regurgitation
OMIM:615373	RAF1	5894	HP:0011675	Arrhythmia
OMIM:615373	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:615373	RAF1	5894	HP:0001711	Abnormality of the left ventricle
OMIM:615373	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:615373	RAF1	5894	HP:0001653	Mitral regurgitation
OMIM:615373	GATAD1	57798	HP:0011675	Arrhythmia
OMIM:615373	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:615373	GATAD1	57798	HP:0001711	Abnormality of the left ventricle
OMIM:615373	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:615373	GATAD1	57798	HP:0001653	Mitral regurgitation
OMIM:615373	LAMA4	3910	HP:0011675	Arrhythmia
OMIM:615373	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:615373	LAMA4	3910	HP:0001711	Abnormality of the left ventricle
OMIM:615373	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:615373	LAMA4	3910	HP:0001653	Mitral regurgitation
OMIM:615373	TMPO	7112	HP:0011675	Arrhythmia
OMIM:615373	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:615373	TMPO	7112	HP:0001711	Abnormality of the left ventricle
OMIM:615373	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:615373	TMPO	7112	HP:0001653	Mitral regurgitation
OMIM:615373	DES	1674	HP:0011675	Arrhythmia
OMIM:615373	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:615373	DES	1674	HP:0001711	Abnormality of the left ventricle
OMIM:615373	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:615373	DES	1674	HP:0001653	Mitral regurgitation
OMIM:615373	ABCC9	10060	HP:0011675	Arrhythmia
OMIM:615373	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:615373	ABCC9	10060	HP:0001711	Abnormality of the left ventricle
OMIM:615373	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:615373	ABCC9	10060	HP:0001653	Mitral regurgitation
OMIM:615373	MYH6	4624	HP:0011675	Arrhythmia
OMIM:615373	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:615373	MYH6	4624	HP:0001711	Abnormality of the left ventricle
OMIM:615373	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:615373	MYH6	4624	HP:0001653	Mitral regurgitation
OMIM:615373	MYH7	4625	HP:0011675	Arrhythmia
OMIM:615373	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:615373	MYH7	4625	HP:0001711	Abnormality of the left ventricle
OMIM:615373	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:615373	MYH7	4625	HP:0001653	Mitral regurgitation
OMIM:615373	LDB3	11155	HP:0011675	Arrhythmia
OMIM:615373	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:615373	LDB3	11155	HP:0001711	Abnormality of the left ventricle
OMIM:615373	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:615373	LDB3	11155	HP:0001653	Mitral regurgitation
OMIM:615373	ACTN2	88	HP:0011675	Arrhythmia
OMIM:615373	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:615373	ACTN2	88	HP:0001711	Abnormality of the left ventricle
OMIM:615373	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:615373	ACTN2	88	HP:0001653	Mitral regurgitation
OMIM:615373	TXNRD2	10587	HP:0011675	Arrhythmia
OMIM:615373	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:615373	TXNRD2	10587	HP:0001711	Abnormality of the left ventricle
OMIM:615373	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:615373	TXNRD2	10587	HP:0001653	Mitral regurgitation
OMIM:615373	DMD	1756	HP:0011675	Arrhythmia
OMIM:615373	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:615373	DMD	1756	HP:0001711	Abnormality of the left ventricle
OMIM:615373	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:615373	DMD	1756	HP:0001653	Mitral regurgitation
OMIM:615373	TNNC1	7134	HP:0011675	Arrhythmia
OMIM:615373	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:615373	TNNC1	7134	HP:0001711	Abnormality of the left ventricle
OMIM:615373	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:615373	TNNC1	7134	HP:0001653	Mitral regurgitation
OMIM:615373	PSEN1	5663	HP:0011675	Arrhythmia
OMIM:615373	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:615373	PSEN1	5663	HP:0001711	Abnormality of the left ventricle
OMIM:615373	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:615373	PSEN1	5663	HP:0001653	Mitral regurgitation
OMIM:615373	LMNA	4000	HP:0011675	Arrhythmia
OMIM:615373	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:615373	LMNA	4000	HP:0001711	Abnormality of the left ventricle
OMIM:615373	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:615373	LMNA	4000	HP:0001653	Mitral regurgitation
OMIM:615373	PSEN2	5664	HP:0011675	Arrhythmia
OMIM:615373	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:615373	PSEN2	5664	HP:0001711	Abnormality of the left ventricle
OMIM:615373	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:615373	PSEN2	5664	HP:0001653	Mitral regurgitation
OMIM:615373	TNNI3	7137	HP:0011675	Arrhythmia
OMIM:615373	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:615373	TNNI3	7137	HP:0001711	Abnormality of the left ventricle
OMIM:615373	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:615373	TNNI3	7137	HP:0001653	Mitral regurgitation
OMIM:615373	FHL2	2274	HP:0011675	Arrhythmia
OMIM:615373	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:615373	FHL2	2274	HP:0001711	Abnormality of the left ventricle
OMIM:615373	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:615373	FHL2	2274	HP:0001653	Mitral regurgitation
OMIM:615373	TNNT2	7139	HP:0011675	Arrhythmia
OMIM:615373	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:615373	TNNT2	7139	HP:0001711	Abnormality of the left ventricle
OMIM:615373	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:615373	TNNT2	7139	HP:0001653	Mitral regurgitation
OMIM:615373	DSG2	1829	HP:0011675	Arrhythmia
OMIM:615373	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:615373	DSG2	1829	HP:0001711	Abnormality of the left ventricle
OMIM:615373	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:615373	DSG2	1829	HP:0001653	Mitral regurgitation
OMIM:615373	PLN	5350	HP:0011675	Arrhythmia
OMIM:615373	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:615373	PLN	5350	HP:0001711	Abnormality of the left ventricle
OMIM:615373	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:615373	PLN	5350	HP:0001653	Mitral regurgitation
OMIM:615373	PRDM16	63976	HP:0011675	Arrhythmia
OMIM:615373	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:615373	PRDM16	63976	HP:0001711	Abnormality of the left ventricle
OMIM:615373	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:615373	PRDM16	63976	HP:0001653	Mitral regurgitation
OMIM:615373	TTN	7273	HP:0011675	Arrhythmia
OMIM:615373	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:615373	TTN	7273	HP:0001711	Abnormality of the left ventricle
OMIM:615373	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:615373	TTN	7273	HP:0001653	Mitral regurgitation
OMIM:615373	NEXN	91624	HP:0011675	Arrhythmia
OMIM:615373	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:615373	NEXN	91624	HP:0001711	Abnormality of the left ventricle
OMIM:615373	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:615373	NEXN	91624	HP:0001653	Mitral regurgitation
OMIM:615373	FKTN	2218	HP:0011675	Arrhythmia
OMIM:615373	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:615373	FKTN	2218	HP:0001711	Abnormality of the left ventricle
OMIM:615373	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:615373	FKTN	2218	HP:0001653	Mitral regurgitation
OMIM:615373	MYH7B	57644	HP:0011675	Arrhythmia
OMIM:615373	MYH7B	57644	HP:0001644	Dilated cardiomyopathy
OMIM:615373	MYH7B	57644	HP:0001711	Abnormality of the left ventricle
OMIM:615373	MYH7B	57644	HP:0000006	Autosomal dominant inheritance
OMIM:615373	MYH7B	57644	HP:0001653	Mitral regurgitation
OMIM:615373	SGCD	6444	HP:0011675	Arrhythmia
OMIM:615373	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:615373	SGCD	6444	HP:0001711	Abnormality of the left ventricle
OMIM:615373	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:615373	SGCD	6444	HP:0001653	Mitral regurgitation
OMIM:615373	DTNA	1837	HP:0011675	Arrhythmia
OMIM:615373	DTNA	1837	HP:0001644	Dilated cardiomyopathy
OMIM:615373	DTNA	1837	HP:0001711	Abnormality of the left ventricle
OMIM:615373	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:615373	DTNA	1837	HP:0001653	Mitral regurgitation
OMIM:615373	TCAP	8557	HP:0011675	Arrhythmia
OMIM:615373	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:615373	TCAP	8557	HP:0001711	Abnormality of the left ventricle
OMIM:615373	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:615373	TCAP	8557	HP:0001653	Mitral regurgitation
OMIM:615373	CSRP3	8048	HP:0011675	Arrhythmia
OMIM:615373	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:615373	CSRP3	8048	HP:0001711	Abnormality of the left ventricle
OMIM:615373	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:615373	CSRP3	8048	HP:0001653	Mitral regurgitation
OMIM:615373	RBM20	282996	HP:0011675	Arrhythmia
OMIM:615373	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:615373	RBM20	282996	HP:0001711	Abnormality of the left ventricle
OMIM:615373	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:615373	RBM20	282996	HP:0001653	Mitral regurgitation
OMIM:615373	TAZ	6901	HP:0011675	Arrhythmia
OMIM:615373	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:615373	TAZ	6901	HP:0001711	Abnormality of the left ventricle
OMIM:615373	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:615373	TAZ	6901	HP:0001653	Mitral regurgitation
OMIM:615373	SDHA	6389	HP:0011675	Arrhythmia
OMIM:615373	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:615373	SDHA	6389	HP:0001711	Abnormality of the left ventricle
OMIM:615373	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:615373	SDHA	6389	HP:0001653	Mitral regurgitation
OMIM:615373	VCL	7414	HP:0011675	Arrhythmia
OMIM:615373	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:615373	VCL	7414	HP:0001711	Abnormality of the left ventricle
OMIM:615373	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:615373	VCL	7414	HP:0001653	Mitral regurgitation
OMIM:615373	MYPN	84665	HP:0011675	Arrhythmia
OMIM:615373	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:615373	MYPN	84665	HP:0001711	Abnormality of the left ventricle
OMIM:615373	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:615373	MYPN	84665	HP:0001653	Mitral regurgitation
OMIM:615373	SCN5A	6331	HP:0011675	Arrhythmia
OMIM:615373	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:615373	SCN5A	6331	HP:0001711	Abnormality of the left ventricle
OMIM:615373	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:615373	SCN5A	6331	HP:0001653	Mitral regurgitation
OMIM:615373	BAG3	9531	HP:0011675	Arrhythmia
OMIM:615373	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:615373	BAG3	9531	HP:0001711	Abnormality of the left ventricle
OMIM:615373	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:615373	BAG3	9531	HP:0001653	Mitral regurgitation
OMIM:615373	DOLK	22845	HP:0011675	Arrhythmia
OMIM:615373	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:615373	DOLK	22845	HP:0001711	Abnormality of the left ventricle
OMIM:615373	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:615373	DOLK	22845	HP:0001653	Mitral regurgitation
OMIM:615373	MIB1	57534	HP:0011675	Arrhythmia
OMIM:615373	MIB1	57534	HP:0001644	Dilated cardiomyopathy
OMIM:615373	MIB1	57534	HP:0001711	Abnormality of the left ventricle
OMIM:615373	MIB1	57534	HP:0000006	Autosomal dominant inheritance
OMIM:615373	MIB1	57534	HP:0001653	Mitral regurgitation
OMIM:615373	MYBPC3	4607	HP:0011675	Arrhythmia
OMIM:615373	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:615373	MYBPC3	4607	HP:0001711	Abnormality of the left ventricle
OMIM:615373	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:615373	MYBPC3	4607	HP:0001653	Mitral regurgitation
OMIM:613954	TREM2	54209	HP:0001260	Dysarthria
OMIM:613954	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	TREM2	54209	HP:0003202	Skeletal muscle atrophy
OMIM:613954	TREM2	54209	HP:0002380	Fasciculations
OMIM:613954	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:613954	TREM2	54209	HP:0001324	Muscle weakness
OMIM:613954	VAPB	9217	HP:0001260	Dysarthria
OMIM:613954	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	VAPB	9217	HP:0003202	Skeletal muscle atrophy
OMIM:613954	VAPB	9217	HP:0002380	Fasciculations
OMIM:613954	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:613954	VAPB	9217	HP:0001324	Muscle weakness
OMIM:613954	PON1	5444	HP:0001260	Dysarthria
OMIM:613954	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	PON1	5444	HP:0003202	Skeletal muscle atrophy
OMIM:613954	PON1	5444	HP:0002380	Fasciculations
OMIM:613954	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:613954	PON1	5444	HP:0001324	Muscle weakness
OMIM:613954	PON2	5445	HP:0001260	Dysarthria
OMIM:613954	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	PON2	5445	HP:0003202	Skeletal muscle atrophy
OMIM:613954	PON2	5445	HP:0002380	Fasciculations
OMIM:613954	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:613954	PON2	5445	HP:0001324	Muscle weakness
OMIM:613954	PON3	5446	HP:0001260	Dysarthria
OMIM:613954	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	PON3	5446	HP:0003202	Skeletal muscle atrophy
OMIM:613954	PON3	5446	HP:0002380	Fasciculations
OMIM:613954	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:613954	PON3	5446	HP:0001324	Muscle weakness
OMIM:613954	NEFH	4744	HP:0001260	Dysarthria
OMIM:613954	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	NEFH	4744	HP:0003202	Skeletal muscle atrophy
OMIM:613954	NEFH	4744	HP:0002380	Fasciculations
OMIM:613954	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:613954	NEFH	4744	HP:0001324	Muscle weakness
OMIM:613954	DAO	1610	HP:0001260	Dysarthria
OMIM:613954	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	DAO	1610	HP:0003202	Skeletal muscle atrophy
OMIM:613954	DAO	1610	HP:0002380	Fasciculations
OMIM:613954	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:613954	DAO	1610	HP:0001324	Muscle weakness
OMIM:613954	TARDBP	23435	HP:0001260	Dysarthria
OMIM:613954	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:613954	TARDBP	23435	HP:0002380	Fasciculations
OMIM:613954	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:613954	TARDBP	23435	HP:0001324	Muscle weakness
OMIM:613954	PPARGC1A	10891	HP:0001260	Dysarthria
OMIM:613954	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	PPARGC1A	10891	HP:0003202	Skeletal muscle atrophy
OMIM:613954	PPARGC1A	10891	HP:0002380	Fasciculations
OMIM:613954	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:613954	PPARGC1A	10891	HP:0001324	Muscle weakness
OMIM:613954	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:613954	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
OMIM:613954	CHCHD10	400916	HP:0002380	Fasciculations
OMIM:613954	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:613954	CHCHD10	400916	HP:0001324	Muscle weakness
OMIM:613954	ERBB4	2066	HP:0001260	Dysarthria
OMIM:613954	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	ERBB4	2066	HP:0003202	Skeletal muscle atrophy
OMIM:613954	ERBB4	2066	HP:0002380	Fasciculations
OMIM:613954	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:613954	ERBB4	2066	HP:0001324	Muscle weakness
OMIM:613954	OPTN	10133	HP:0001260	Dysarthria
OMIM:613954	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	OPTN	10133	HP:0003202	Skeletal muscle atrophy
OMIM:613954	OPTN	10133	HP:0002380	Fasciculations
OMIM:613954	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:613954	OPTN	10133	HP:0001324	Muscle weakness
OMIM:613954	FUS	2521	HP:0001260	Dysarthria
OMIM:613954	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	FUS	2521	HP:0003202	Skeletal muscle atrophy
OMIM:613954	FUS	2521	HP:0002380	Fasciculations
OMIM:613954	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:613954	FUS	2521	HP:0001324	Muscle weakness
OMIM:613954	UBQLN2	29978	HP:0001260	Dysarthria
OMIM:613954	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	UBQLN2	29978	HP:0003202	Skeletal muscle atrophy
OMIM:613954	UBQLN2	29978	HP:0002380	Fasciculations
OMIM:613954	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:613954	UBQLN2	29978	HP:0001324	Muscle weakness
OMIM:613954	ANG	283	HP:0001260	Dysarthria
OMIM:613954	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	ANG	283	HP:0003202	Skeletal muscle atrophy
OMIM:613954	ANG	283	HP:0002380	Fasciculations
OMIM:613954	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:613954	ANG	283	HP:0001324	Muscle weakness
OMIM:613954	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:613954	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:613954	C9ORF72	203228	HP:0002380	Fasciculations
OMIM:613954	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:613954	C9ORF72	203228	HP:0001324	Muscle weakness
OMIM:613954	PFN1	5216	HP:0001260	Dysarthria
OMIM:613954	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	PFN1	5216	HP:0003202	Skeletal muscle atrophy
OMIM:613954	PFN1	5216	HP:0002380	Fasciculations
OMIM:613954	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:613954	PFN1	5216	HP:0001324	Muscle weakness
OMIM:613954	ATXN2	6311	HP:0001260	Dysarthria
OMIM:613954	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	ATXN2	6311	HP:0003202	Skeletal muscle atrophy
OMIM:613954	ATXN2	6311	HP:0002380	Fasciculations
OMIM:613954	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:613954	ATXN2	6311	HP:0001324	Muscle weakness
OMIM:613954	DCTN1	1639	HP:0001260	Dysarthria
OMIM:613954	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	DCTN1	1639	HP:0003202	Skeletal muscle atrophy
OMIM:613954	DCTN1	1639	HP:0002380	Fasciculations
OMIM:613954	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:613954	DCTN1	1639	HP:0001324	Muscle weakness
OMIM:613954	FIG4	9896	HP:0001260	Dysarthria
OMIM:613954	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	FIG4	9896	HP:0003202	Skeletal muscle atrophy
OMIM:613954	FIG4	9896	HP:0002380	Fasciculations
OMIM:613954	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:613954	FIG4	9896	HP:0001324	Muscle weakness
OMIM:613954	HNRNPA1	3178	HP:0001260	Dysarthria
OMIM:613954	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	HNRNPA1	3178	HP:0003202	Skeletal muscle atrophy
OMIM:613954	HNRNPA1	3178	HP:0002380	Fasciculations
OMIM:613954	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:613954	HNRNPA1	3178	HP:0001324	Muscle weakness
OMIM:613954	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:613954	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:613954	SQSTM1	8878	HP:0002380	Fasciculations
OMIM:613954	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:613954	SQSTM1	8878	HP:0001324	Muscle weakness
OMIM:613954	UNC13A	23025	HP:0001260	Dysarthria
OMIM:613954	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	UNC13A	23025	HP:0003202	Skeletal muscle atrophy
OMIM:613954	UNC13A	23025	HP:0002380	Fasciculations
OMIM:613954	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:613954	UNC13A	23025	HP:0001324	Muscle weakness
OMIM:613954	TBK1	29110	HP:0001260	Dysarthria
OMIM:613954	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:613954	TBK1	29110	HP:0002380	Fasciculations
OMIM:613954	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:613954	TBK1	29110	HP:0001324	Muscle weakness
OMIM:613954	MATR3	9782	HP:0001260	Dysarthria
OMIM:613954	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	MATR3	9782	HP:0003202	Skeletal muscle atrophy
OMIM:613954	MATR3	9782	HP:0002380	Fasciculations
OMIM:613954	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:613954	MATR3	9782	HP:0001324	Muscle weakness
OMIM:613954	VCP	7415	HP:0001260	Dysarthria
OMIM:613954	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:613954	VCP	7415	HP:0002380	Fasciculations
OMIM:613954	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:613954	VCP	7415	HP:0001324	Muscle weakness
OMIM:613954	SOD1	6647	HP:0001260	Dysarthria
OMIM:613954	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	SOD1	6647	HP:0003202	Skeletal muscle atrophy
OMIM:613954	SOD1	6647	HP:0002380	Fasciculations
OMIM:613954	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:613954	SOD1	6647	HP:0001324	Muscle weakness
OMIM:613954	CHMP2B	25978	HP:0001260	Dysarthria
OMIM:613954	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	CHMP2B	25978	HP:0003202	Skeletal muscle atrophy
OMIM:613954	CHMP2B	25978	HP:0002380	Fasciculations
OMIM:613954	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:613954	CHMP2B	25978	HP:0001324	Muscle weakness
OMIM:613954	PRPH	5630	HP:0001260	Dysarthria
OMIM:613954	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613954	PRPH	5630	HP:0003202	Skeletal muscle atrophy
OMIM:613954	PRPH	5630	HP:0002380	Fasciculations
OMIM:613954	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:613954	PRPH	5630	HP:0001324	Muscle weakness
OMIM:601952	POMP	51371	HP:0000007	Autosomal recessive inheritance
OMIM:601952	POMP	51371	HP:0008064	Ichthyosis
OMIM:601952	POMP	51371	HP:0008404	Nail dystrophy
OMIM:601952	POMP	51371	HP:0001367	Abnormal joint morphology
OMIM:601952	POMP	51371	HP:0000982	Palmoplantar keratoderma
OMIM:610536	EFTUD2	9343	HP:0009738	Abnormality of the antihelix
OMIM:610536	EFTUD2	9343	HP:0000007	Autosomal recessive inheritance
OMIM:610536	EFTUD2	9343	HP:0000286	Epicanthus
OMIM:610536	EFTUD2	9343	HP:0000396	Overfolded helix
OMIM:610536	EFTUD2	9343	HP:0001631	Atria septal defect
OMIM:610536	EFTUD2	9343	HP:0011800	Hypoplasia of midface
OMIM:610536	EFTUD2	9343	HP:0000272	Malar flattening
OMIM:610536	EFTUD2	9343	HP:0004322	Short stature
OMIM:610536	EFTUD2	9343	HP:0000494	Downslanted palpebral fissures
OMIM:610536	EFTUD2	9343	HP:0000506	Telecanthus
OMIM:610536	EFTUD2	9343	HP:0000252	Microcephaly
OMIM:610536	EFTUD2	9343	HP:0000175	Cleft palate
OMIM:610536	EFTUD2	9343	HP:0000405	Conductive hearing impairment
OMIM:610536	EFTUD2	9343	HP:0000463	Anteverted nares
OMIM:610536	EFTUD2	9343	HP:0001250	Seizures
OMIM:610536	EFTUD2	9343	HP:0000407	Sensorineural hearing impairment
OMIM:610536	EFTUD2	9343	HP:0008872	Feeding difficulties in infancy
OMIM:610536	EFTUD2	9343	HP:0000582	Upslanted palpebral fissure
OMIM:610536	EFTUD2	9343	HP:0003196	Short nose
OMIM:610536	EFTUD2	9343	HP:0001629	Ventricular septal defect
OMIM:610536	EFTUD2	9343	HP:0001263	Global developmental delay
OMIM:610536	EFTUD2	9343	HP:0000006	Autosomal dominant inheritance
OMIM:610536	EFTUD2	9343	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610536	EFTUD2	9343	HP:0002032	Esophageal atresia
OMIM:610536	EFTUD2	9343	HP:0002880	Respiratory difficulties
OMIM:610536	EFTUD2	9343	HP:0000369	Low-set ears
OMIM:610536	EFTUD2	9343	HP:0000453	Choanal atresia
OMIM:610536	EFTUD2	9343	HP:0000384	Preauricular skin tag
OMIM:610536	EFTUD2	9343	HP:0000347	Micrognathia
OMIM:610536	EFTUD2	9343	HP:0000750	Delayed speech and language development
OMIM:610536	EFTUD2	9343	HP:0000243	Trigonocephaly
OMIM:610536	EFTUD2	9343	HP:0100543	Cognitive impairment
OMIM:610536	EFTUD2	9343	HP:0001177	Preaxial hand polydactyly
OMIM:610536	EFTUD2	9343	HP:0001238	Slender finger
OMIM:610536	EFTUD2	9343	HP:0002167	Neurological speech impairment
OMIM:610536	EFTUD2	9343	HP:0000413	Atresia of the external auditory canal
OMIM:610536	EFTUD2	9343	HP:0008551	Microtia
OMIM:610536	EFTUD2	9343	HP:0009748	Large earlobe
OMIM:610536	EFTUD2	9343	HP:0009623	Proximal placement of thumb
OMIM:612653	SPTA1	6708	HP:0000006	Autosomal dominant inheritance
OMIM:612653	SPTA1	6708	HP:0001878	Hemolytic anemia
OMIM:612653	SPTA1	6708	HP:0001923	Reticulocytosis
OMIM:612653	SPTB	6710	HP:0000006	Autosomal dominant inheritance
OMIM:612653	SPTB	6710	HP:0001878	Hemolytic anemia
OMIM:612653	SPTB	6710	HP:0001923	Reticulocytosis
OMIM:612653	EPB42	2038	HP:0000006	Autosomal dominant inheritance
OMIM:612653	EPB42	2038	HP:0001878	Hemolytic anemia
OMIM:612653	EPB42	2038	HP:0001923	Reticulocytosis
OMIM:612653	SLC4A1	6521	HP:0000006	Autosomal dominant inheritance
OMIM:612653	SLC4A1	6521	HP:0001878	Hemolytic anemia
OMIM:612653	SLC4A1	6521	HP:0001923	Reticulocytosis
OMIM:612653	ANK1	286	HP:0000006	Autosomal dominant inheritance
OMIM:612653	ANK1	286	HP:0001878	Hemolytic anemia
OMIM:612653	ANK1	286	HP:0001923	Reticulocytosis
OMIM:610828	PTCH1	5727	HP:0005273	Absent nasal septal cartilage
OMIM:610828	PTCH1	5727	HP:0000327	Hypoplasia of the maxilla
OMIM:610828	PTCH1	5727	HP:0000006	Autosomal dominant inheritance
OMIM:610828	PTCH1	5727	HP:0002007	Frontal bossing
OMIM:610828	PTCH1	5727	HP:0001263	Global developmental delay
OMIM:610828	PTCH1	5727	HP:0004122	Midline defect of the nose
OMIM:610828	PTCH1	5727	HP:0003196	Short nose
OMIM:610828	PTCH1	5727	HP:0001539	Omphalocele
OMIM:610828	PTCH1	5727	HP:0005469	Flat occiput
OMIM:610828	PTCH1	5727	HP:0006315	Single median maxillary incisor
OMIM:610828	PTCH1	5727	HP:0001274	Agenesis of corpus callosum
OMIM:610828	PTCH1	5727	HP:0008501	Median cleft lip and palate
OMIM:610828	PTCH1	5727	HP:0000256	Macrocephaly
OMIM:610828	PTCH1	5727	HP:0000316	Hypertelorism
OMIM:610828	PTCH1	5727	HP:0000400	Macrotia
OMIM:610828	PTCH1	5727	HP:0000689	Dental malocclusion
OMIM:610828	PTCH1	5727	HP:0000601	Hypotelorism
OMIM:613662	TYMP	1890	HP:0002019	Constipation
OMIM:613662	TYMP	1890	HP:0003676	Progressive
OMIM:613662	TYMP	1890	HP:0001252	Muscular hypotonia
OMIM:613662	TYMP	1890	HP:0003593	Infantile onset
OMIM:613662	TYMP	1890	HP:0002500	Abnormality of the cerebral white matter
OMIM:613662	TYMP	1890	HP:0003270	Abdominal distention
OMIM:613662	TYMP	1890	HP:0001250	Seizures
OMIM:613662	TYMP	1890	HP:0003324	Generalized muscle weakness
OMIM:613662	TYMP	1890	HP:0002024	Malabsorption
OMIM:613662	TYMP	1890	HP:0002027	Abdominal pain
OMIM:613662	TYMP	1890	HP:0001263	Global developmental delay
OMIM:613662	TYMP	1890	HP:0004395	Malnutrition
OMIM:613662	TYMP	1890	HP:0000365	Hearing impairment
OMIM:613662	TYMP	1890	HP:0003828	Variable expressivity
OMIM:613662	TYMP	1890	HP:0002579	Gastrointestinal dysmotility
OMIM:613662	TYMP	1890	HP:0001251	Ataxia
OMIM:613662	TYMP	1890	HP:0000007	Autosomal recessive inheritance
OMIM:613662	POLG	5428	HP:0002019	Constipation
OMIM:613662	POLG	5428	HP:0003676	Progressive
OMIM:613662	POLG	5428	HP:0001252	Muscular hypotonia
OMIM:613662	POLG	5428	HP:0003593	Infantile onset
OMIM:613662	POLG	5428	HP:0002500	Abnormality of the cerebral white matter
OMIM:613662	POLG	5428	HP:0003270	Abdominal distention
OMIM:613662	POLG	5428	HP:0001250	Seizures
OMIM:613662	POLG	5428	HP:0003324	Generalized muscle weakness
OMIM:613662	POLG	5428	HP:0002024	Malabsorption
OMIM:613662	POLG	5428	HP:0002027	Abdominal pain
OMIM:613662	POLG	5428	HP:0001263	Global developmental delay
OMIM:613662	POLG	5428	HP:0004395	Malnutrition
OMIM:613662	POLG	5428	HP:0000365	Hearing impairment
OMIM:613662	POLG	5428	HP:0003828	Variable expressivity
OMIM:613662	POLG	5428	HP:0002579	Gastrointestinal dysmotility
OMIM:613662	POLG	5428	HP:0001251	Ataxia
OMIM:613662	POLG	5428	HP:0000007	Autosomal recessive inheritance
OMIM:613662	RRM2B	50484	HP:0002019	Constipation
OMIM:613662	RRM2B	50484	HP:0003676	Progressive
OMIM:613662	RRM2B	50484	HP:0001252	Muscular hypotonia
OMIM:613662	RRM2B	50484	HP:0003593	Infantile onset
OMIM:613662	RRM2B	50484	HP:0002500	Abnormality of the cerebral white matter
OMIM:613662	RRM2B	50484	HP:0003270	Abdominal distention
OMIM:613662	RRM2B	50484	HP:0001250	Seizures
OMIM:613662	RRM2B	50484	HP:0003324	Generalized muscle weakness
OMIM:613662	RRM2B	50484	HP:0002024	Malabsorption
OMIM:613662	RRM2B	50484	HP:0002027	Abdominal pain
OMIM:613662	RRM2B	50484	HP:0001263	Global developmental delay
OMIM:613662	RRM2B	50484	HP:0004395	Malnutrition
OMIM:613662	RRM2B	50484	HP:0000365	Hearing impairment
OMIM:613662	RRM2B	50484	HP:0003828	Variable expressivity
OMIM:613662	RRM2B	50484	HP:0002579	Gastrointestinal dysmotility
OMIM:613662	RRM2B	50484	HP:0001251	Ataxia
OMIM:613662	RRM2B	50484	HP:0000007	Autosomal recessive inheritance
OMIM:612908	DSG1	1828	HP:0000006	Autosomal dominant inheritance
OMIM:612908	DSG1	1828	HP:0000982	Palmoplantar keratoderma
OMIM:612908	DSP	1832	HP:0000006	Autosomal dominant inheritance
OMIM:612908	DSP	1832	HP:0000982	Palmoplantar keratoderma
OMIM:612908	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:612908	KRT1	3848	HP:0000982	Palmoplantar keratoderma
OMIM:312600	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:312600	RLBP1	6017	HP:0001417	X-linked inheritance
OMIM:312600	RLBP1	6017	HP:0200065	Chorioretinal degeneration
OMIM:312600	RLBP1	6017	HP:0000518	Cataract
OMIM:312600	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:312600	RLBP1	6017	HP:0000545	Myopia
OMIM:312600	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:312600	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:312600	SPATA7	55812	HP:0001417	X-linked inheritance
OMIM:312600	SPATA7	55812	HP:0200065	Chorioretinal degeneration
OMIM:312600	SPATA7	55812	HP:0000518	Cataract
OMIM:312600	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:312600	SPATA7	55812	HP:0000545	Myopia
OMIM:312600	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:312600	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:312600	ARL6	84100	HP:0001417	X-linked inheritance
OMIM:312600	ARL6	84100	HP:0200065	Chorioretinal degeneration
OMIM:312600	ARL6	84100	HP:0000518	Cataract
OMIM:312600	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:312600	ARL6	84100	HP:0000545	Myopia
OMIM:312600	ARL6	84100	HP:0000662	Nyctalopia
OMIM:312600	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:312600	CERKL	375298	HP:0001417	X-linked inheritance
OMIM:312600	CERKL	375298	HP:0200065	Chorioretinal degeneration
OMIM:312600	CERKL	375298	HP:0000518	Cataract
OMIM:312600	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:312600	CERKL	375298	HP:0000545	Myopia
OMIM:312600	CERKL	375298	HP:0000662	Nyctalopia
OMIM:312600	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:312600	PRPF31	26121	HP:0001417	X-linked inheritance
OMIM:312600	PRPF31	26121	HP:0200065	Chorioretinal degeneration
OMIM:312600	PRPF31	26121	HP:0000518	Cataract
OMIM:312600	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:312600	PRPF31	26121	HP:0000545	Myopia
OMIM:312600	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:312600	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:312600	TTC8	123016	HP:0001417	X-linked inheritance
OMIM:312600	TTC8	123016	HP:0200065	Chorioretinal degeneration
OMIM:312600	TTC8	123016	HP:0000518	Cataract
OMIM:312600	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:312600	TTC8	123016	HP:0000545	Myopia
OMIM:312600	TTC8	123016	HP:0000662	Nyctalopia
OMIM:312600	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:312600	PROM1	8842	HP:0001417	X-linked inheritance
OMIM:312600	PROM1	8842	HP:0200065	Chorioretinal degeneration
OMIM:312600	PROM1	8842	HP:0000518	Cataract
OMIM:312600	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:312600	PROM1	8842	HP:0000545	Myopia
OMIM:312600	PROM1	8842	HP:0000662	Nyctalopia
OMIM:312600	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:312600	LRAT	9227	HP:0001417	X-linked inheritance
OMIM:312600	LRAT	9227	HP:0200065	Chorioretinal degeneration
OMIM:312600	LRAT	9227	HP:0000518	Cataract
OMIM:312600	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:312600	LRAT	9227	HP:0000545	Myopia
OMIM:312600	LRAT	9227	HP:0000662	Nyctalopia
OMIM:312600	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:312600	IFT140	9742	HP:0001417	X-linked inheritance
OMIM:312600	IFT140	9742	HP:0200065	Chorioretinal degeneration
OMIM:312600	IFT140	9742	HP:0000518	Cataract
OMIM:312600	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:312600	IFT140	9742	HP:0000545	Myopia
OMIM:312600	IFT140	9742	HP:0000662	Nyctalopia
OMIM:312600	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:312600	BEST1	7439	HP:0001417	X-linked inheritance
OMIM:312600	BEST1	7439	HP:0200065	Chorioretinal degeneration
OMIM:312600	BEST1	7439	HP:0000518	Cataract
OMIM:312600	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:312600	BEST1	7439	HP:0000545	Myopia
OMIM:312600	BEST1	7439	HP:0000662	Nyctalopia
OMIM:312600	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:312600	NEK2	4751	HP:0001417	X-linked inheritance
OMIM:312600	NEK2	4751	HP:0200065	Chorioretinal degeneration
OMIM:312600	NEK2	4751	HP:0000518	Cataract
OMIM:312600	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:312600	NEK2	4751	HP:0000545	Myopia
OMIM:312600	NEK2	4751	HP:0000662	Nyctalopia
OMIM:312600	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:312600	ARL2BP	23568	HP:0001417	X-linked inheritance
OMIM:312600	ARL2BP	23568	HP:0200065	Chorioretinal degeneration
OMIM:312600	ARL2BP	23568	HP:0000518	Cataract
OMIM:312600	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:312600	ARL2BP	23568	HP:0000545	Myopia
OMIM:312600	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:312600	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:312600	NR2E3	10002	HP:0001417	X-linked inheritance
OMIM:312600	NR2E3	10002	HP:0200065	Chorioretinal degeneration
OMIM:312600	NR2E3	10002	HP:0000518	Cataract
OMIM:312600	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:312600	NR2E3	10002	HP:0000545	Myopia
OMIM:312600	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:312600	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:312600	EYS	346007	HP:0001417	X-linked inheritance
OMIM:312600	EYS	346007	HP:0200065	Chorioretinal degeneration
OMIM:312600	EYS	346007	HP:0000518	Cataract
OMIM:312600	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:312600	EYS	346007	HP:0000545	Myopia
OMIM:312600	EYS	346007	HP:0000662	Nyctalopia
OMIM:312600	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:312600	MAK	4117	HP:0001417	X-linked inheritance
OMIM:312600	MAK	4117	HP:0200065	Chorioretinal degeneration
OMIM:312600	MAK	4117	HP:0000518	Cataract
OMIM:312600	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:312600	MAK	4117	HP:0000545	Myopia
OMIM:312600	MAK	4117	HP:0000662	Nyctalopia
OMIM:312600	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:312600	SAG	6295	HP:0001417	X-linked inheritance
OMIM:312600	SAG	6295	HP:0200065	Chorioretinal degeneration
OMIM:312600	SAG	6295	HP:0000518	Cataract
OMIM:312600	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:312600	SAG	6295	HP:0000545	Myopia
OMIM:312600	SAG	6295	HP:0000662	Nyctalopia
OMIM:312600	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:312600	ABCA4	24	HP:0001417	X-linked inheritance
OMIM:312600	ABCA4	24	HP:0200065	Chorioretinal degeneration
OMIM:312600	ABCA4	24	HP:0000518	Cataract
OMIM:312600	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:312600	ABCA4	24	HP:0000545	Myopia
OMIM:312600	ABCA4	24	HP:0000662	Nyctalopia
OMIM:312600	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:312600	PDE6A	5145	HP:0001417	X-linked inheritance
OMIM:312600	PDE6A	5145	HP:0200065	Chorioretinal degeneration
OMIM:312600	PDE6A	5145	HP:0000518	Cataract
OMIM:312600	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:312600	PDE6A	5145	HP:0000545	Myopia
OMIM:312600	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:312600	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:312600	PDE6G	5148	HP:0001417	X-linked inheritance
OMIM:312600	PDE6G	5148	HP:0200065	Chorioretinal degeneration
OMIM:312600	PDE6G	5148	HP:0000518	Cataract
OMIM:312600	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:312600	PDE6G	5148	HP:0000545	Myopia
OMIM:312600	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:312600	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:312600	IMPDH1	3614	HP:0001417	X-linked inheritance
OMIM:312600	IMPDH1	3614	HP:0200065	Chorioretinal degeneration
OMIM:312600	IMPDH1	3614	HP:0000518	Cataract
OMIM:312600	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:312600	IMPDH1	3614	HP:0000545	Myopia
OMIM:312600	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:312600	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:312600	OFD1	8481	HP:0001417	X-linked inheritance
OMIM:312600	OFD1	8481	HP:0200065	Chorioretinal degeneration
OMIM:312600	OFD1	8481	HP:0000518	Cataract
OMIM:312600	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:312600	OFD1	8481	HP:0000545	Myopia
OMIM:312600	OFD1	8481	HP:0000662	Nyctalopia
OMIM:312600	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:312600	GUCA1B	2979	HP:0001417	X-linked inheritance
OMIM:312600	GUCA1B	2979	HP:0200065	Chorioretinal degeneration
OMIM:312600	GUCA1B	2979	HP:0000518	Cataract
OMIM:312600	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:312600	GUCA1B	2979	HP:0000545	Myopia
OMIM:312600	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:312600	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:312600	NRL	4901	HP:0001417	X-linked inheritance
OMIM:312600	NRL	4901	HP:0200065	Chorioretinal degeneration
OMIM:312600	NRL	4901	HP:0000518	Cataract
OMIM:312600	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:312600	NRL	4901	HP:0000545	Myopia
OMIM:312600	NRL	4901	HP:0000662	Nyctalopia
OMIM:312600	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:312600	PDE6B	5158	HP:0001417	X-linked inheritance
OMIM:312600	PDE6B	5158	HP:0200065	Chorioretinal degeneration
OMIM:312600	PDE6B	5158	HP:0000518	Cataract
OMIM:312600	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:312600	PDE6B	5158	HP:0000545	Myopia
OMIM:312600	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:312600	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:312600	KLHL7	55975	HP:0001417	X-linked inheritance
OMIM:312600	KLHL7	55975	HP:0200065	Chorioretinal degeneration
OMIM:312600	KLHL7	55975	HP:0000518	Cataract
OMIM:312600	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:312600	KLHL7	55975	HP:0000545	Myopia
OMIM:312600	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:312600	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:312600	PRPF4	9128	HP:0001417	X-linked inheritance
OMIM:312600	PRPF4	9128	HP:0200065	Chorioretinal degeneration
OMIM:312600	PRPF4	9128	HP:0000518	Cataract
OMIM:312600	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:312600	PRPF4	9128	HP:0000545	Myopia
OMIM:312600	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:312600	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:312600	PRPF3	9129	HP:0001417	X-linked inheritance
OMIM:312600	PRPF3	9129	HP:0200065	Chorioretinal degeneration
OMIM:312600	PRPF3	9129	HP:0000518	Cataract
OMIM:312600	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:312600	PRPF3	9129	HP:0000545	Myopia
OMIM:312600	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:312600	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:312600	FAM161A	84140	HP:0001417	X-linked inheritance
OMIM:312600	FAM161A	84140	HP:0200065	Chorioretinal degeneration
OMIM:312600	FAM161A	84140	HP:0000518	Cataract
OMIM:312600	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:312600	FAM161A	84140	HP:0000545	Myopia
OMIM:312600	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:312600	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:312600	IFT172	26160	HP:0001417	X-linked inheritance
OMIM:312600	IFT172	26160	HP:0200065	Chorioretinal degeneration
OMIM:312600	IFT172	26160	HP:0000518	Cataract
OMIM:312600	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:312600	IFT172	26160	HP:0000545	Myopia
OMIM:312600	IFT172	26160	HP:0000662	Nyctalopia
OMIM:312600	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:312600	KIZ	55857	HP:0001417	X-linked inheritance
OMIM:312600	KIZ	55857	HP:0200065	Chorioretinal degeneration
OMIM:312600	KIZ	55857	HP:0000518	Cataract
OMIM:312600	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:312600	KIZ	55857	HP:0000545	Myopia
OMIM:312600	KIZ	55857	HP:0000662	Nyctalopia
OMIM:312600	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:312600	CDHR1	92211	HP:0001417	X-linked inheritance
OMIM:312600	CDHR1	92211	HP:0200065	Chorioretinal degeneration
OMIM:312600	CDHR1	92211	HP:0000518	Cataract
OMIM:312600	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:312600	CDHR1	92211	HP:0000545	Myopia
OMIM:312600	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:312600	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:312600	ZNF408	79797	HP:0001417	X-linked inheritance
OMIM:312600	ZNF408	79797	HP:0200065	Chorioretinal degeneration
OMIM:312600	ZNF408	79797	HP:0000518	Cataract
OMIM:312600	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:312600	ZNF408	79797	HP:0000545	Myopia
OMIM:312600	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:312600	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:312600	RBP3	5949	HP:0001417	X-linked inheritance
OMIM:312600	RBP3	5949	HP:0200065	Chorioretinal degeneration
OMIM:312600	RBP3	5949	HP:0000518	Cataract
OMIM:312600	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:312600	RBP3	5949	HP:0000545	Myopia
OMIM:312600	RBP3	5949	HP:0000662	Nyctalopia
OMIM:312600	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:312600	HGSNAT	138050	HP:0001417	X-linked inheritance
OMIM:312600	HGSNAT	138050	HP:0200065	Chorioretinal degeneration
OMIM:312600	HGSNAT	138050	HP:0000518	Cataract
OMIM:312600	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:312600	HGSNAT	138050	HP:0000545	Myopia
OMIM:312600	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:312600	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:312600	FSCN2	25794	HP:0001417	X-linked inheritance
OMIM:312600	FSCN2	25794	HP:0200065	Chorioretinal degeneration
OMIM:312600	FSCN2	25794	HP:0000518	Cataract
OMIM:312600	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:312600	FSCN2	25794	HP:0000545	Myopia
OMIM:312600	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:312600	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:312600	PRCD	768206	HP:0001417	X-linked inheritance
OMIM:312600	PRCD	768206	HP:0200065	Chorioretinal degeneration
OMIM:312600	PRCD	768206	HP:0000518	Cataract
OMIM:312600	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:312600	PRCD	768206	HP:0000545	Myopia
OMIM:312600	PRCD	768206	HP:0000662	Nyctalopia
OMIM:312600	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:312600	BBS2	583	HP:0001417	X-linked inheritance
OMIM:312600	BBS2	583	HP:0200065	Chorioretinal degeneration
OMIM:312600	BBS2	583	HP:0000518	Cataract
OMIM:312600	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:312600	BBS2	583	HP:0000545	Myopia
OMIM:312600	BBS2	583	HP:0000662	Nyctalopia
OMIM:312600	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:312600	RDH12	145226	HP:0001417	X-linked inheritance
OMIM:312600	RDH12	145226	HP:0200065	Chorioretinal degeneration
OMIM:312600	RDH12	145226	HP:0000518	Cataract
OMIM:312600	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:312600	RDH12	145226	HP:0000545	Myopia
OMIM:312600	RDH12	145226	HP:0000662	Nyctalopia
OMIM:312600	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:312600	PRPH2	5961	HP:0001417	X-linked inheritance
OMIM:312600	PRPH2	5961	HP:0200065	Chorioretinal degeneration
OMIM:312600	PRPH2	5961	HP:0000518	Cataract
OMIM:312600	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:312600	PRPH2	5961	HP:0000545	Myopia
OMIM:312600	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:312600	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:312600	DHDDS	79947	HP:0001417	X-linked inheritance
OMIM:312600	DHDDS	79947	HP:0200065	Chorioretinal degeneration
OMIM:312600	DHDDS	79947	HP:0000518	Cataract
OMIM:312600	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:312600	DHDDS	79947	HP:0000545	Myopia
OMIM:312600	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:312600	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:312600	ROM1	6094	HP:0001417	X-linked inheritance
OMIM:312600	ROM1	6094	HP:0200065	Chorioretinal degeneration
OMIM:312600	ROM1	6094	HP:0000518	Cataract
OMIM:312600	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:312600	ROM1	6094	HP:0000545	Myopia
OMIM:312600	ROM1	6094	HP:0000662	Nyctalopia
OMIM:312600	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:312600	C2ORF71	388939	HP:0001417	X-linked inheritance
OMIM:312600	C2ORF71	388939	HP:0200065	Chorioretinal degeneration
OMIM:312600	C2ORF71	388939	HP:0000518	Cataract
OMIM:312600	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:312600	C2ORF71	388939	HP:0000545	Myopia
OMIM:312600	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:312600	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:312600	RP9	6100	HP:0001417	X-linked inheritance
OMIM:312600	RP9	6100	HP:0200065	Chorioretinal degeneration
OMIM:312600	RP9	6100	HP:0000518	Cataract
OMIM:312600	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:312600	RP9	6100	HP:0000545	Myopia
OMIM:312600	RP9	6100	HP:0000662	Nyctalopia
OMIM:312600	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:312600	PRPF6	24148	HP:0001417	X-linked inheritance
OMIM:312600	PRPF6	24148	HP:0200065	Chorioretinal degeneration
OMIM:312600	PRPF6	24148	HP:0000518	Cataract
OMIM:312600	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:312600	PRPF6	24148	HP:0000545	Myopia
OMIM:312600	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:312600	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:312600	RP1	6101	HP:0001417	X-linked inheritance
OMIM:312600	RP1	6101	HP:0200065	Chorioretinal degeneration
OMIM:312600	RP1	6101	HP:0000518	Cataract
OMIM:312600	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:312600	RP1	6101	HP:0000545	Myopia
OMIM:312600	RP1	6101	HP:0000662	Nyctalopia
OMIM:312600	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:312600	RP2	6102	HP:0001417	X-linked inheritance
OMIM:312600	RP2	6102	HP:0200065	Chorioretinal degeneration
OMIM:312600	RP2	6102	HP:0000518	Cataract
OMIM:312600	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:312600	RP2	6102	HP:0000545	Myopia
OMIM:312600	RP2	6102	HP:0000662	Nyctalopia
OMIM:312600	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:312600	RPGR	6103	HP:0001417	X-linked inheritance
OMIM:312600	RPGR	6103	HP:0200065	Chorioretinal degeneration
OMIM:312600	RPGR	6103	HP:0000518	Cataract
OMIM:312600	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:312600	RPGR	6103	HP:0000545	Myopia
OMIM:312600	RPGR	6103	HP:0000662	Nyctalopia
OMIM:312600	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:312600	SEMA4A	64218	HP:0001417	X-linked inheritance
OMIM:312600	SEMA4A	64218	HP:0200065	Chorioretinal degeneration
OMIM:312600	SEMA4A	64218	HP:0000518	Cataract
OMIM:312600	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:312600	SEMA4A	64218	HP:0000545	Myopia
OMIM:312600	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:312600	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:312600	C8ORF37	157657	HP:0001417	X-linked inheritance
OMIM:312600	C8ORF37	157657	HP:0200065	Chorioretinal degeneration
OMIM:312600	C8ORF37	157657	HP:0000518	Cataract
OMIM:312600	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:312600	C8ORF37	157657	HP:0000545	Myopia
OMIM:312600	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:312600	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:312600	IDH3B	3420	HP:0001417	X-linked inheritance
OMIM:312600	IDH3B	3420	HP:0200065	Chorioretinal degeneration
OMIM:312600	IDH3B	3420	HP:0000518	Cataract
OMIM:312600	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:312600	IDH3B	3420	HP:0000545	Myopia
OMIM:312600	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:312600	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:312600	MERTK	10461	HP:0001417	X-linked inheritance
OMIM:312600	MERTK	10461	HP:0200065	Chorioretinal degeneration
OMIM:312600	MERTK	10461	HP:0000518	Cataract
OMIM:312600	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:312600	MERTK	10461	HP:0000545	Myopia
OMIM:312600	MERTK	10461	HP:0000662	Nyctalopia
OMIM:312600	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:312600	PRPF8	10594	HP:0001417	X-linked inheritance
OMIM:312600	PRPF8	10594	HP:0200065	Chorioretinal degeneration
OMIM:312600	PRPF8	10594	HP:0000518	Cataract
OMIM:312600	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:312600	PRPF8	10594	HP:0000545	Myopia
OMIM:312600	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:312600	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:312600	TOPORS	10210	HP:0001417	X-linked inheritance
OMIM:312600	TOPORS	10210	HP:0200065	Chorioretinal degeneration
OMIM:312600	TOPORS	10210	HP:0000518	Cataract
OMIM:312600	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:312600	TOPORS	10210	HP:0000545	Myopia
OMIM:312600	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:312600	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:312600	USH2A	7399	HP:0001417	X-linked inheritance
OMIM:312600	USH2A	7399	HP:0200065	Chorioretinal degeneration
OMIM:312600	USH2A	7399	HP:0000518	Cataract
OMIM:312600	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:312600	USH2A	7399	HP:0000545	Myopia
OMIM:312600	USH2A	7399	HP:0000662	Nyctalopia
OMIM:312600	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:312600	RPE65	6121	HP:0001417	X-linked inheritance
OMIM:312600	RPE65	6121	HP:0200065	Chorioretinal degeneration
OMIM:312600	RPE65	6121	HP:0000518	Cataract
OMIM:312600	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:312600	RPE65	6121	HP:0000545	Myopia
OMIM:312600	RPE65	6121	HP:0000662	Nyctalopia
OMIM:312600	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:312600	CLRN1	7401	HP:0001417	X-linked inheritance
OMIM:312600	CLRN1	7401	HP:0200065	Chorioretinal degeneration
OMIM:312600	CLRN1	7401	HP:0000518	Cataract
OMIM:312600	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:312600	CLRN1	7401	HP:0000545	Myopia
OMIM:312600	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:312600	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:312600	CNGB1	1258	HP:0001417	X-linked inheritance
OMIM:312600	CNGB1	1258	HP:0200065	Chorioretinal degeneration
OMIM:312600	CNGB1	1258	HP:0000518	Cataract
OMIM:312600	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:312600	CNGB1	1258	HP:0000545	Myopia
OMIM:312600	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:312600	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:312600	RGR	5995	HP:0001417	X-linked inheritance
OMIM:312600	RGR	5995	HP:0200065	Chorioretinal degeneration
OMIM:312600	RGR	5995	HP:0000518	Cataract
OMIM:312600	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:312600	RGR	5995	HP:0000545	Myopia
OMIM:312600	RGR	5995	HP:0000662	Nyctalopia
OMIM:312600	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:312600	CNGA1	1259	HP:0001417	X-linked inheritance
OMIM:312600	CNGA1	1259	HP:0200065	Chorioretinal degeneration
OMIM:312600	CNGA1	1259	HP:0000518	Cataract
OMIM:312600	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:312600	CNGA1	1259	HP:0000545	Myopia
OMIM:312600	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:312600	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:312600	TUB	7275	HP:0001417	X-linked inheritance
OMIM:312600	TUB	7275	HP:0200065	Chorioretinal degeneration
OMIM:312600	TUB	7275	HP:0000518	Cataract
OMIM:312600	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:312600	TUB	7275	HP:0000545	Myopia
OMIM:312600	TUB	7275	HP:0000662	Nyctalopia
OMIM:312600	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:312600	SNRNP200	23020	HP:0001417	X-linked inheritance
OMIM:312600	SNRNP200	23020	HP:0200065	Chorioretinal degeneration
OMIM:312600	SNRNP200	23020	HP:0000518	Cataract
OMIM:312600	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:312600	SNRNP200	23020	HP:0000545	Myopia
OMIM:312600	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:312600	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:312600	SLC7A14	57709	HP:0001417	X-linked inheritance
OMIM:312600	SLC7A14	57709	HP:0200065	Chorioretinal degeneration
OMIM:312600	SLC7A14	57709	HP:0000518	Cataract
OMIM:312600	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:312600	SLC7A14	57709	HP:0000545	Myopia
OMIM:312600	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:312600	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:312600	TULP1	7287	HP:0001417	X-linked inheritance
OMIM:312600	TULP1	7287	HP:0200065	Chorioretinal degeneration
OMIM:312600	TULP1	7287	HP:0000518	Cataract
OMIM:312600	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:312600	TULP1	7287	HP:0000545	Myopia
OMIM:312600	TULP1	7287	HP:0000662	Nyctalopia
OMIM:312600	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:312600	RHO	6010	HP:0001417	X-linked inheritance
OMIM:312600	RHO	6010	HP:0200065	Chorioretinal degeneration
OMIM:312600	RHO	6010	HP:0000518	Cataract
OMIM:312600	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:312600	RHO	6010	HP:0000545	Myopia
OMIM:312600	RHO	6010	HP:0000662	Nyctalopia
OMIM:312600	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:312600	CA4	762	HP:0001417	X-linked inheritance
OMIM:312600	CA4	762	HP:0200065	Chorioretinal degeneration
OMIM:312600	CA4	762	HP:0000518	Cataract
OMIM:312600	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:312600	CA4	762	HP:0000545	Myopia
OMIM:312600	CA4	762	HP:0000662	Nyctalopia
OMIM:312600	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:312600	CRB1	23418	HP:0001417	X-linked inheritance
OMIM:312600	CRB1	23418	HP:0200065	Chorioretinal degeneration
OMIM:312600	CRB1	23418	HP:0000518	Cataract
OMIM:312600	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:312600	CRB1	23418	HP:0000545	Myopia
OMIM:312600	CRB1	23418	HP:0000662	Nyctalopia
OMIM:312600	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:312600	IMPG2	50939	HP:0001417	X-linked inheritance
OMIM:312600	IMPG2	50939	HP:0200065	Chorioretinal degeneration
OMIM:312600	IMPG2	50939	HP:0000518	Cataract
OMIM:312600	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:312600	IMPG2	50939	HP:0000545	Myopia
OMIM:312600	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:312600	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:312600	ZNF513	130557	HP:0001417	X-linked inheritance
OMIM:312600	ZNF513	130557	HP:0200065	Chorioretinal degeneration
OMIM:312600	ZNF513	130557	HP:0000518	Cataract
OMIM:312600	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:312600	ZNF513	130557	HP:0000545	Myopia
OMIM:312600	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:312600	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:312600	CRX	1406	HP:0001417	X-linked inheritance
OMIM:312600	CRX	1406	HP:0200065	Chorioretinal degeneration
OMIM:312600	CRX	1406	HP:0000518	Cataract
OMIM:312600	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:312600	CRX	1406	HP:0000545	Myopia
OMIM:312600	CRX	1406	HP:0000662	Nyctalopia
OMIM:601539	PEX19	5824	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX19	5824	HP:0000431	Wide nasal bridge
OMIM:601539	PEX19	5824	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX19	5824	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX19	5824	HP:0000107	Renal cyst
OMIM:601539	PEX19	5824	HP:0001250	Seizures
OMIM:601539	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX19	5824	HP:0000750	Delayed speech and language development
OMIM:601539	PEX19	5824	HP:0001263	Global developmental delay
OMIM:601539	PEX19	5824	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX19	5824	HP:0002415	Leukodystrophy
OMIM:601539	PEX16	9409	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX16	9409	HP:0000431	Wide nasal bridge
OMIM:601539	PEX16	9409	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX16	9409	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX16	9409	HP:0000107	Renal cyst
OMIM:601539	PEX16	9409	HP:0001250	Seizures
OMIM:601539	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX16	9409	HP:0000750	Delayed speech and language development
OMIM:601539	PEX16	9409	HP:0001263	Global developmental delay
OMIM:601539	PEX16	9409	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX16	9409	HP:0002415	Leukodystrophy
OMIM:601539	PEX2	5828	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX2	5828	HP:0000431	Wide nasal bridge
OMIM:601539	PEX2	5828	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX2	5828	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX2	5828	HP:0000107	Renal cyst
OMIM:601539	PEX2	5828	HP:0001250	Seizures
OMIM:601539	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX2	5828	HP:0000750	Delayed speech and language development
OMIM:601539	PEX2	5828	HP:0001263	Global developmental delay
OMIM:601539	PEX2	5828	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX2	5828	HP:0002415	Leukodystrophy
OMIM:601539	PEX1	5189	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX1	5189	HP:0000431	Wide nasal bridge
OMIM:601539	PEX1	5189	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX1	5189	HP:0000107	Renal cyst
OMIM:601539	PEX1	5189	HP:0001250	Seizures
OMIM:601539	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX1	5189	HP:0000750	Delayed speech and language development
OMIM:601539	PEX1	5189	HP:0001263	Global developmental delay
OMIM:601539	PEX1	5189	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX1	5189	HP:0002415	Leukodystrophy
OMIM:601539	PEX5	5830	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX5	5830	HP:0000431	Wide nasal bridge
OMIM:601539	PEX5	5830	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX5	5830	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX5	5830	HP:0000107	Renal cyst
OMIM:601539	PEX5	5830	HP:0001250	Seizures
OMIM:601539	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX5	5830	HP:0000750	Delayed speech and language development
OMIM:601539	PEX5	5830	HP:0001263	Global developmental delay
OMIM:601539	PEX5	5830	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX5	5830	HP:0002415	Leukodystrophy
OMIM:601539	PEX6	5190	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX6	5190	HP:0000431	Wide nasal bridge
OMIM:601539	PEX6	5190	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX6	5190	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX6	5190	HP:0000107	Renal cyst
OMIM:601539	PEX6	5190	HP:0001250	Seizures
OMIM:601539	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX6	5190	HP:0000750	Delayed speech and language development
OMIM:601539	PEX6	5190	HP:0001263	Global developmental delay
OMIM:601539	PEX6	5190	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX6	5190	HP:0002415	Leukodystrophy
OMIM:601539	PEX10	5192	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX10	5192	HP:0000431	Wide nasal bridge
OMIM:601539	PEX10	5192	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX10	5192	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX10	5192	HP:0000107	Renal cyst
OMIM:601539	PEX10	5192	HP:0001250	Seizures
OMIM:601539	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX10	5192	HP:0000750	Delayed speech and language development
OMIM:601539	PEX10	5192	HP:0001263	Global developmental delay
OMIM:601539	PEX10	5192	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX10	5192	HP:0002415	Leukodystrophy
OMIM:601539	PEX12	5193	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX12	5193	HP:0000431	Wide nasal bridge
OMIM:601539	PEX12	5193	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX12	5193	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX12	5193	HP:0000107	Renal cyst
OMIM:601539	PEX12	5193	HP:0001250	Seizures
OMIM:601539	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX12	5193	HP:0000750	Delayed speech and language development
OMIM:601539	PEX12	5193	HP:0001263	Global developmental delay
OMIM:601539	PEX12	5193	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX12	5193	HP:0002415	Leukodystrophy
OMIM:601539	PEX13	5194	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX13	5194	HP:0000431	Wide nasal bridge
OMIM:601539	PEX13	5194	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX13	5194	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX13	5194	HP:0000107	Renal cyst
OMIM:601539	PEX13	5194	HP:0001250	Seizures
OMIM:601539	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX13	5194	HP:0000750	Delayed speech and language development
OMIM:601539	PEX13	5194	HP:0001263	Global developmental delay
OMIM:601539	PEX13	5194	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX13	5194	HP:0002415	Leukodystrophy
OMIM:601539	PEX14	5195	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX14	5195	HP:0000431	Wide nasal bridge
OMIM:601539	PEX14	5195	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX14	5195	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX14	5195	HP:0000107	Renal cyst
OMIM:601539	PEX14	5195	HP:0001250	Seizures
OMIM:601539	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX14	5195	HP:0000750	Delayed speech and language development
OMIM:601539	PEX14	5195	HP:0001263	Global developmental delay
OMIM:601539	PEX14	5195	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX14	5195	HP:0002415	Leukodystrophy
OMIM:601539	PEX26	55670	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX26	55670	HP:0000431	Wide nasal bridge
OMIM:601539	PEX26	55670	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX26	55670	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX26	55670	HP:0000107	Renal cyst
OMIM:601539	PEX26	55670	HP:0001250	Seizures
OMIM:601539	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX26	55670	HP:0000750	Delayed speech and language development
OMIM:601539	PEX26	55670	HP:0001263	Global developmental delay
OMIM:601539	PEX26	55670	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX26	55670	HP:0002415	Leukodystrophy
OMIM:601539	PEX3	8504	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX3	8504	HP:0000431	Wide nasal bridge
OMIM:601539	PEX3	8504	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX3	8504	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX3	8504	HP:0000107	Renal cyst
OMIM:601539	PEX3	8504	HP:0001250	Seizures
OMIM:601539	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX3	8504	HP:0000750	Delayed speech and language development
OMIM:601539	PEX3	8504	HP:0001263	Global developmental delay
OMIM:601539	PEX3	8504	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX3	8504	HP:0002415	Leukodystrophy
OMIM:601539	PEX11B	8799	HP:0001319	Neonatal hypotonia
OMIM:601539	PEX11B	8799	HP:0000431	Wide nasal bridge
OMIM:601539	PEX11B	8799	HP:0000510	Rod-cone dystrophy
OMIM:601539	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
OMIM:601539	PEX11B	8799	HP:0000107	Renal cyst
OMIM:601539	PEX11B	8799	HP:0001250	Seizures
OMIM:601539	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:601539	PEX11B	8799	HP:0000750	Delayed speech and language development
OMIM:601539	PEX11B	8799	HP:0001263	Global developmental delay
OMIM:601539	PEX11B	8799	HP:0010655	Epiphyseal stippling
OMIM:601539	PEX11B	8799	HP:0002415	Leukodystrophy
OMIM:176500	ITM2B	9445	HP:0001337	Tremor
OMIM:176500	ITM2B	9445	HP:0002063	Rigidity
OMIM:176500	ITM2B	9445	HP:0001257	Spasticity
OMIM:176500	ITM2B	9445	HP:0000006	Autosomal dominant inheritance
OMIM:176500	ITM2B	9445	HP:0000726	Dementia
OMIM:176500	ITM2B	9445	HP:0001276	Hypertonia
OMIM:176500	ITM2B	9445	HP:0002344	Progressive neurologic deterioration
OMIM:300607	ARHGEF9	23229	HP:0200134	Epileptic encephalopathy
OMIM:300607	ARHGEF9	23229	HP:0002267	Exaggerated startle response
OMIM:300607	ARHGEF9	23229	HP:0001276	Hypertonia
OMIM:300607	ARHGEF9	23229	HP:0001419	X-linked recessive inheritance
OMIM:300607	ARHGEF9	23229	HP:0006887	Intellectual disability, progressive
OMIM:300607	ARHGEF9	23229	HP:0001250	Seizures
OMIM:300607	ARHGEF9	23229	HP:0010864	Intellectual disability, severe
OMIM:300607	ARHGEF9	23229	HP:0003577	Congenital onset
OMIM:233690	CYBB	1536	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233690	CYBB	1536	HP:0002724	Recurrent Aspergillus infections
OMIM:233690	CYBB	1536	HP:0001744	Splenomegaly
OMIM:233690	CYBB	1536	HP:0003621	Juvenile onset
OMIM:233690	CYBB	1536	HP:0002716	Lymphadenopathy
OMIM:233690	CYBB	1536	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233690	CYBB	1536	HP:0002740	Recurrent E. coli infections
OMIM:233690	CYBB	1536	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233690	CYBB	1536	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233690	CYBB	1536	HP:0000007	Autosomal recessive inheritance
OMIM:233690	CYBB	1536	HP:0002840	Lymphadenitis
OMIM:233690	CYBB	1536	HP:0002955	Granulomatosis
OMIM:233690	CYBB	1536	HP:0006532	Recurrent pneumonia
OMIM:233690	CYBB	1536	HP:0005224	Rectal abscess
OMIM:233690	CYBB	1536	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233690	CYBB	1536	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:233690	CYBB	1536	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233690	CYBB	1536	HP:0002240	Hepatomegaly
OMIM:233690	CYBB	1536	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233690	CYBB	1536	HP:0007417	Discoid lupus erythematosus
OMIM:233690	CYBB	1536	HP:0005406	Recurrent bacterial skin infections
OMIM:233690	CYBB	1536	HP:0002742	Recurrent Klebsiella infections
OMIM:233690	CYBB	1536	HP:0000976	Eczematoid dermatitis
OMIM:233690	CYBB	1536	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233690	CYBB	1536	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233690	NCF2	4688	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233690	NCF2	4688	HP:0002724	Recurrent Aspergillus infections
OMIM:233690	NCF2	4688	HP:0001744	Splenomegaly
OMIM:233690	NCF2	4688	HP:0003621	Juvenile onset
OMIM:233690	NCF2	4688	HP:0002716	Lymphadenopathy
OMIM:233690	NCF2	4688	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233690	NCF2	4688	HP:0002740	Recurrent E. coli infections
OMIM:233690	NCF2	4688	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233690	NCF2	4688	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233690	NCF2	4688	HP:0000007	Autosomal recessive inheritance
OMIM:233690	NCF2	4688	HP:0002840	Lymphadenitis
OMIM:233690	NCF2	4688	HP:0002955	Granulomatosis
OMIM:233690	NCF2	4688	HP:0006532	Recurrent pneumonia
OMIM:233690	NCF2	4688	HP:0005224	Rectal abscess
OMIM:233690	NCF2	4688	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233690	NCF2	4688	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:233690	NCF2	4688	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233690	NCF2	4688	HP:0002240	Hepatomegaly
OMIM:233690	NCF2	4688	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233690	NCF2	4688	HP:0007417	Discoid lupus erythematosus
OMIM:233690	NCF2	4688	HP:0005406	Recurrent bacterial skin infections
OMIM:233690	NCF2	4688	HP:0002742	Recurrent Klebsiella infections
OMIM:233690	NCF2	4688	HP:0000976	Eczematoid dermatitis
OMIM:233690	NCF2	4688	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233690	NCF2	4688	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233690	NCF4	4689	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233690	NCF4	4689	HP:0002724	Recurrent Aspergillus infections
OMIM:233690	NCF4	4689	HP:0001744	Splenomegaly
OMIM:233690	NCF4	4689	HP:0003621	Juvenile onset
OMIM:233690	NCF4	4689	HP:0002716	Lymphadenopathy
OMIM:233690	NCF4	4689	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233690	NCF4	4689	HP:0002740	Recurrent E. coli infections
OMIM:233690	NCF4	4689	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233690	NCF4	4689	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233690	NCF4	4689	HP:0000007	Autosomal recessive inheritance
OMIM:233690	NCF4	4689	HP:0002840	Lymphadenitis
OMIM:233690	NCF4	4689	HP:0002955	Granulomatosis
OMIM:233690	NCF4	4689	HP:0006532	Recurrent pneumonia
OMIM:233690	NCF4	4689	HP:0005224	Rectal abscess
OMIM:233690	NCF4	4689	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233690	NCF4	4689	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:233690	NCF4	4689	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233690	NCF4	4689	HP:0002240	Hepatomegaly
OMIM:233690	NCF4	4689	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233690	NCF4	4689	HP:0007417	Discoid lupus erythematosus
OMIM:233690	NCF4	4689	HP:0005406	Recurrent bacterial skin infections
OMIM:233690	NCF4	4689	HP:0002742	Recurrent Klebsiella infections
OMIM:233690	NCF4	4689	HP:0000976	Eczematoid dermatitis
OMIM:233690	NCF4	4689	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233690	NCF4	4689	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233690	NCF1	653361	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233690	NCF1	653361	HP:0002724	Recurrent Aspergillus infections
OMIM:233690	NCF1	653361	HP:0001744	Splenomegaly
OMIM:233690	NCF1	653361	HP:0003621	Juvenile onset
OMIM:233690	NCF1	653361	HP:0002716	Lymphadenopathy
OMIM:233690	NCF1	653361	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233690	NCF1	653361	HP:0002740	Recurrent E. coli infections
OMIM:233690	NCF1	653361	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233690	NCF1	653361	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233690	NCF1	653361	HP:0000007	Autosomal recessive inheritance
OMIM:233690	NCF1	653361	HP:0002840	Lymphadenitis
OMIM:233690	NCF1	653361	HP:0002955	Granulomatosis
OMIM:233690	NCF1	653361	HP:0006532	Recurrent pneumonia
OMIM:233690	NCF1	653361	HP:0005224	Rectal abscess
OMIM:233690	NCF1	653361	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233690	NCF1	653361	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:233690	NCF1	653361	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233690	NCF1	653361	HP:0002240	Hepatomegaly
OMIM:233690	NCF1	653361	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233690	NCF1	653361	HP:0007417	Discoid lupus erythematosus
OMIM:233690	NCF1	653361	HP:0005406	Recurrent bacterial skin infections
OMIM:233690	NCF1	653361	HP:0002742	Recurrent Klebsiella infections
OMIM:233690	NCF1	653361	HP:0000976	Eczematoid dermatitis
OMIM:233690	NCF1	653361	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233690	NCF1	653361	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233690	CYBA	1535	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233690	CYBA	1535	HP:0002724	Recurrent Aspergillus infections
OMIM:233690	CYBA	1535	HP:0001744	Splenomegaly
OMIM:233690	CYBA	1535	HP:0003621	Juvenile onset
OMIM:233690	CYBA	1535	HP:0002716	Lymphadenopathy
OMIM:233690	CYBA	1535	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233690	CYBA	1535	HP:0002740	Recurrent E. coli infections
OMIM:233690	CYBA	1535	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233690	CYBA	1535	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233690	CYBA	1535	HP:0000007	Autosomal recessive inheritance
OMIM:233690	CYBA	1535	HP:0002840	Lymphadenitis
OMIM:233690	CYBA	1535	HP:0002955	Granulomatosis
OMIM:233690	CYBA	1535	HP:0006532	Recurrent pneumonia
OMIM:233690	CYBA	1535	HP:0005224	Rectal abscess
OMIM:233690	CYBA	1535	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233690	CYBA	1535	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:233690	CYBA	1535	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233690	CYBA	1535	HP:0002240	Hepatomegaly
OMIM:233690	CYBA	1535	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233690	CYBA	1535	HP:0007417	Discoid lupus erythematosus
OMIM:233690	CYBA	1535	HP:0005406	Recurrent bacterial skin infections
OMIM:233690	CYBA	1535	HP:0002742	Recurrent Klebsiella infections
OMIM:233690	CYBA	1535	HP:0000976	Eczematoid dermatitis
OMIM:233690	CYBA	1535	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233690	CYBA	1535	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:300352	SLC6A8	6535	HP:0000508	Ptosis
OMIM:300352	SLC6A8	6535	HP:0001257	Spasticity
OMIM:300352	SLC6A8	6535	HP:0001288	Gait disturbance
OMIM:300352	SLC6A8	6535	HP:0000750	Delayed speech and language development
OMIM:300352	SLC6A8	6535	HP:0000540	Hypermetropia
OMIM:300352	SLC6A8	6535	HP:0001382	Joint hypermobility
OMIM:300352	SLC6A8	6535	HP:0004322	Short stature
OMIM:300352	SLC6A8	6535	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:300352	SLC6A8	6535	HP:0007018	Attention deficit hyperactivity disorder
OMIM:300352	SLC6A8	6535	HP:0001249	Intellectual disability
OMIM:300352	SLC6A8	6535	HP:0005214	Intestinal obstruction
OMIM:300352	SLC6A8	6535	HP:0001319	Neonatal hypotonia
OMIM:300352	SLC6A8	6535	HP:0001276	Hypertonia
OMIM:300352	SLC6A8	6535	HP:0002251	Aganglionic megacolon
OMIM:300352	SLC6A8	6535	HP:0100022	Abnormality of movement
OMIM:300352	SLC6A8	6535	HP:0000098	Tall stature
OMIM:300352	SLC6A8	6535	HP:0003593	Infantile onset
OMIM:300352	SLC6A8	6535	HP:0000303	Mandibular prognathia
OMIM:300352	SLC6A8	6535	HP:0000577	Exotropia
OMIM:300352	SLC6A8	6535	HP:0000272	Malar flattening
OMIM:300352	SLC6A8	6535	HP:0012448	Delayed myelination
OMIM:300352	SLC6A8	6535	HP:0001252	Muscular hypotonia
OMIM:300352	SLC6A8	6535	HP:0000337	Broad forehead
OMIM:300352	SLC6A8	6535	HP:0001508	Failure to thrive
OMIM:300352	SLC6A8	6535	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300352	SLC6A8	6535	HP:0002311	Incoordination
OMIM:300352	SLC6A8	6535	HP:0000298	Mask-like facies
OMIM:300352	SLC6A8	6535	HP:0000252	Microcephaly
OMIM:300352	SLC6A8	6535	HP:0002013	Vomiting
OMIM:300352	SLC6A8	6535	HP:0000733	Stereotypic behavior
OMIM:300352	SLC6A8	6535	HP:0000718	Aggressive behavior
OMIM:300352	SLC6A8	6535	HP:0001270	Motor delay
OMIM:300352	SLC6A8	6535	HP:0002019	Constipation
OMIM:300352	SLC6A8	6535	HP:0000275	Narrow face
OMIM:300352	SLC6A8	6535	HP:0011800	Hypoplasia of midface
OMIM:300352	SLC6A8	6535	HP:0000973	Cutis laxa
OMIM:300352	SLC6A8	6535	HP:0001419	X-linked recessive inheritance
OMIM:300352	SLC6A8	6535	HP:0001332	Dystonia
OMIM:300352	SLC6A8	6535	HP:0008872	Feeding difficulties in infancy
OMIM:300352	SLC6A8	6535	HP:0000194	Open mouth
OMIM:300352	SLC6A8	6535	HP:0001263	Global developmental delay
OMIM:300352	SLC6A8	6535	HP:0100543	Cognitive impairment
OMIM:300352	SLC6A8	6535	HP:0000717	Autism
OMIM:300352	SLC6A8	6535	HP:0004325	Decreased body weight
OMIM:300352	SLC6A8	6535	HP:0001250	Seizures
OMIM:300352	SLC6A8	6535	HP:0001761	Pes cavus
OMIM:300352	SLC6A8	6535	HP:0000276	Long face
OMIM:300352	SLC6A8	6535	HP:0002167	Neurological speech impairment
OMIM:300352	SLC6A8	6535	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:615735	KRT6C	286887	HP:0000006	Autosomal dominant inheritance
OMIM:615735	KRT6C	286887	HP:0000982	Palmoplantar keratoderma
OMIM:609741	CRYBA2	1412	HP:0000007	Autosomal recessive inheritance
OMIM:609741	CRYBA2	1412	HP:0000501	Glaucoma
OMIM:609741	CRYBA2	1412	HP:0100018	Nuclear cataract
OMIM:609741	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:609741	AGK	55750	HP:0000501	Glaucoma
OMIM:609741	AGK	55750	HP:0100018	Nuclear cataract
OMIM:609741	CRYBB3	1417	HP:0000007	Autosomal recessive inheritance
OMIM:609741	CRYBB3	1417	HP:0000501	Glaucoma
OMIM:609741	CRYBB3	1417	HP:0100018	Nuclear cataract
OMIM:609741	GCNT2	2651	HP:0000007	Autosomal recessive inheritance
OMIM:609741	GCNT2	2651	HP:0000501	Glaucoma
OMIM:609741	GCNT2	2651	HP:0100018	Nuclear cataract
OMIM:300475	BCAP31	10134	HP:0003429	CNS hypomyelination
OMIM:300475	BCAP31	10134	HP:0001263	Global developmental delay
OMIM:300475	BCAP31	10134	HP:0001508	Failure to thrive
OMIM:300475	BCAP31	10134	HP:0001332	Dystonia
OMIM:300475	BCAP31	10134	HP:0002445	Tetraplegia
OMIM:300475	BCAP31	10134	HP:0000407	Sensorineural hearing impairment
OMIM:300475	BCAP31	10134	HP:0002059	Cerebral atrophy
OMIM:300475	BCAP31	10134	HP:0001272	Cerebellar atrophy
OMIM:300475	BCAP31	10134	HP:0001999	Abnormal facial shape
OMIM:300475	BCAP31	10134	HP:0001249	Intellectual disability
OMIM:300475	BCAP31	10134	HP:0001250	Seizures
OMIM:300475	BCAP31	10134	HP:0001419	X-linked recessive inheritance
OMIM:300475	BCAP31	10134	HP:0000486	Strabismus
OMIM:300475	BCAP31	10134	HP:0006808	Cerebral hypomyelination
OMIM:300475	BCAP31	10134	HP:0007256	Abnormal pyramidal signs
OMIM:300475	BCAP31	10134	HP:0000648	Optic atrophy
OMIM:300475	BCAP31	10134	HP:0000252	Microcephaly
OMIM:300475	ABCD1	215	HP:0003429	CNS hypomyelination
OMIM:300475	ABCD1	215	HP:0001263	Global developmental delay
OMIM:300475	ABCD1	215	HP:0001508	Failure to thrive
OMIM:300475	ABCD1	215	HP:0001332	Dystonia
OMIM:300475	ABCD1	215	HP:0002445	Tetraplegia
OMIM:300475	ABCD1	215	HP:0000407	Sensorineural hearing impairment
OMIM:300475	ABCD1	215	HP:0002059	Cerebral atrophy
OMIM:300475	ABCD1	215	HP:0001272	Cerebellar atrophy
OMIM:300475	ABCD1	215	HP:0001999	Abnormal facial shape
OMIM:300475	ABCD1	215	HP:0001249	Intellectual disability
OMIM:300475	ABCD1	215	HP:0001250	Seizures
OMIM:300475	ABCD1	215	HP:0001419	X-linked recessive inheritance
OMIM:300475	ABCD1	215	HP:0000486	Strabismus
OMIM:300475	ABCD1	215	HP:0006808	Cerebral hypomyelination
OMIM:300475	ABCD1	215	HP:0007256	Abnormal pyramidal signs
OMIM:300475	ABCD1	215	HP:0000648	Optic atrophy
OMIM:300475	ABCD1	215	HP:0000252	Microcephaly
OMIM:605850	DMGDH	29958	HP:0003236	Elevated serum creatine phosphokinase
OMIM:605850	DMGDH	29958	HP:0000007	Autosomal recessive inheritance
OMIM:312760	RPS4X	6191	HP:0001417	X-linked inheritance
OMIM:615758	LCK	3932	HP:0002014	Diarrhea
OMIM:615758	LCK	3932	HP:0002960	Autoimmunity
OMIM:615758	LCK	3932	HP:0001508	Failure to thrive
OMIM:615758	LCK	3932	HP:0002205	Recurrent respiratory infections
OMIM:615758	LCK	3932	HP:0002721	Immunodeficiency
OMIM:604827	CACNB4	785	HP:0002069	Generalized tonic-clonic seizures
OMIM:604827	CACNB4	785	HP:0000007	Autosomal recessive inheritance
OMIM:604827	CACNB4	785	HP:0001336	Myoclonus
OMIM:604827	GABRD	2563	HP:0002069	Generalized tonic-clonic seizures
OMIM:604827	GABRD	2563	HP:0000007	Autosomal recessive inheritance
OMIM:604827	GABRD	2563	HP:0001336	Myoclonus
OMIM:604827	JRK	8629	HP:0002069	Generalized tonic-clonic seizures
OMIM:604827	JRK	8629	HP:0000007	Autosomal recessive inheritance
OMIM:604827	JRK	8629	HP:0001336	Myoclonus
OMIM:604827	EFHC1	114327	HP:0002069	Generalized tonic-clonic seizures
OMIM:604827	EFHC1	114327	HP:0000007	Autosomal recessive inheritance
OMIM:604827	EFHC1	114327	HP:0001336	Myoclonus
OMIM:604827	GABRA1	2554	HP:0002069	Generalized tonic-clonic seizures
OMIM:604827	GABRA1	2554	HP:0000007	Autosomal recessive inheritance
OMIM:604827	GABRA1	2554	HP:0001336	Myoclonus
OMIM:604827	KCNQ3	3786	HP:0002069	Generalized tonic-clonic seizures
OMIM:604827	KCNQ3	3786	HP:0000007	Autosomal recessive inheritance
OMIM:604827	KCNQ3	3786	HP:0001336	Myoclonus
OMIM:604827	CLCN2	1181	HP:0002069	Generalized tonic-clonic seizures
OMIM:604827	CLCN2	1181	HP:0000007	Autosomal recessive inheritance
OMIM:604827	CLCN2	1181	HP:0001336	Myoclonus
OMIM:300498	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300498	ZNF711	7552	HP:0000400	Macrotia
OMIM:300498	ZNF711	7552	HP:0001419	X-linked recessive inheritance
OMIM:300498	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300498	IL1RAPL1	11141	HP:0000400	Macrotia
OMIM:300498	IL1RAPL1	11141	HP:0001419	X-linked recessive inheritance
OMIM:300498	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300498	ACSL4	2182	HP:0000400	Macrotia
OMIM:300498	ACSL4	2182	HP:0001419	X-linked recessive inheritance
OMIM:300498	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300498	PAK3	5063	HP:0000400	Macrotia
OMIM:300498	PAK3	5063	HP:0001419	X-linked recessive inheritance
OMIM:300498	SYP	6855	HP:0001249	Intellectual disability
OMIM:300498	SYP	6855	HP:0000400	Macrotia
OMIM:300498	SYP	6855	HP:0001419	X-linked recessive inheritance
OMIM:300498	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300498	FTSJ1	24140	HP:0000400	Macrotia
OMIM:300498	FTSJ1	24140	HP:0001419	X-linked recessive inheritance
OMIM:300498	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300498	DLG3	1741	HP:0000400	Macrotia
OMIM:300498	DLG3	1741	HP:0001419	X-linked recessive inheritance
OMIM:300498	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300498	PTCHD1	139411	HP:0000400	Macrotia
OMIM:300498	PTCHD1	139411	HP:0001419	X-linked recessive inheritance
OMIM:300498	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300498	ZNF81	347344	HP:0000400	Macrotia
OMIM:300498	ZNF81	347344	HP:0001419	X-linked recessive inheritance
OMIM:300498	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300498	UPF3B	65109	HP:0000400	Macrotia
OMIM:300498	UPF3B	65109	HP:0001419	X-linked recessive inheritance
OMIM:300498	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300498	RAB39B	116442	HP:0000400	Macrotia
OMIM:300498	RAB39B	116442	HP:0001419	X-linked recessive inheritance
OMIM:300498	DMD	1756	HP:0001249	Intellectual disability
OMIM:300498	DMD	1756	HP:0000400	Macrotia
OMIM:300498	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:300498	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300498	MAGT1	84061	HP:0000400	Macrotia
OMIM:300498	MAGT1	84061	HP:0001419	X-linked recessive inheritance
OMIM:300498	MID2	11043	HP:0001249	Intellectual disability
OMIM:300498	MID2	11043	HP:0000400	Macrotia
OMIM:300498	MID2	11043	HP:0001419	X-linked recessive inheritance
OMIM:300498	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300498	GDI1	2664	HP:0000400	Macrotia
OMIM:300498	GDI1	2664	HP:0001419	X-linked recessive inheritance
OMIM:300498	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300498	ZNF41	7592	HP:0000400	Macrotia
OMIM:300498	ZNF41	7592	HP:0001419	X-linked recessive inheritance
OMIM:300498	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300498	MECP2	4204	HP:0000400	Macrotia
OMIM:300498	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300498	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300498	HCFC1	3054	HP:0000400	Macrotia
OMIM:300498	HCFC1	3054	HP:0001419	X-linked recessive inheritance
OMIM:300498	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300498	USP9X	8239	HP:0000400	Macrotia
OMIM:300498	USP9X	8239	HP:0001419	X-linked recessive inheritance
OMIM:300498	MED12	9968	HP:0001249	Intellectual disability
OMIM:300498	MED12	9968	HP:0000400	Macrotia
OMIM:300498	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:300498	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300498	ZNF674	641339	HP:0000400	Macrotia
OMIM:300498	ZNF674	641339	HP:0001419	X-linked recessive inheritance
OMIM:300498	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300498	ARHGEF6	9459	HP:0000400	Macrotia
OMIM:300498	ARHGEF6	9459	HP:0001419	X-linked recessive inheritance
OMIM:300498	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300498	RPS6KA3	6197	HP:0000400	Macrotia
OMIM:300498	RPS6KA3	6197	HP:0001419	X-linked recessive inheritance
OMIM:300498	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300498	IQSEC2	23096	HP:0000400	Macrotia
OMIM:300498	IQSEC2	23096	HP:0001419	X-linked recessive inheritance
OMIM:300498	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300498	AGTR2	186	HP:0000400	Macrotia
OMIM:300498	AGTR2	186	HP:0001419	X-linked recessive inheritance
OMIM:300498	ARX	170302	HP:0001249	Intellectual disability
OMIM:300498	ARX	170302	HP:0000400	Macrotia
OMIM:300498	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:300498	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300498	ALG13	79868	HP:0000400	Macrotia
OMIM:300498	ALG13	79868	HP:0001419	X-linked recessive inheritance
OMIM:300498	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300498	TSPAN7	7102	HP:0000400	Macrotia
OMIM:300498	TSPAN7	7102	HP:0001419	X-linked recessive inheritance
OMIM:170390	KCNJ5	3762	HP:0001507	Growth abnormality
OMIM:170390	KCNJ5	3762	HP:0002750	Delayed skeletal maturation
OMIM:170390	KCNJ5	3762	HP:0000252	Microcephaly
OMIM:170390	KCNJ5	3762	HP:0000337	Broad forehead
OMIM:170390	KCNJ5	3762	HP:0004279	Short palm
OMIM:170390	KCNJ5	3762	HP:0010743	Short metatarsal
OMIM:170390	KCNJ5	3762	HP:0000175	Cleft palate
OMIM:170390	KCNJ5	3762	HP:0003691	Scapular winging
OMIM:170390	KCNJ5	3762	HP:0000316	Hypertelorism
OMIM:170390	KCNJ5	3762	HP:0001388	Joint laxity
OMIM:170390	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:170390	KCNJ5	3762	HP:0001962	Palpitations
OMIM:170390	KCNJ5	3762	HP:0001328	Specific learning disability
OMIM:170390	KCNJ5	3762	HP:0004209	Clinodactyly of the 5th finger
OMIM:170390	KCNJ5	3762	HP:0000272	Malar flattening
OMIM:170390	KCNJ5	3762	HP:0000696	Delayed eruption of permanent teeth
OMIM:170390	KCNJ5	3762	HP:0006335	Persistence of primary teeth
OMIM:170390	KCNJ5	3762	HP:0200055	Small hand
OMIM:170390	KCNJ5	3762	HP:0010049	Short metacarpal
OMIM:170390	KCNJ5	3762	HP:0000324	Facial asymmetry
OMIM:170390	KCNJ5	3762	HP:0000219	Thin upper lip vermilion
OMIM:170390	KCNJ5	3762	HP:0003100	Slender long bone
OMIM:170390	KCNJ5	3762	HP:0006297	Hypoplasia of dental enamel
OMIM:170390	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:170390	KCNJ5	3762	HP:0001770	Toe syndactyly
OMIM:170390	KCNJ5	3762	HP:0000369	Low-set ears
OMIM:170390	KCNJ5	3762	HP:0009803	Short phalanx of finger
OMIM:170390	KCNJ5	3762	HP:0000325	Triangular face
OMIM:170390	KCNJ5	3762	HP:0000327	Hypoplasia of the maxilla
OMIM:170390	KCNJ5	3762	HP:0000218	High palate
OMIM:170390	KCNJ5	3762	HP:0001156	Brachydactyly syndrome
OMIM:170390	KCNJ5	3762	HP:0001279	Syncope
OMIM:170390	KCNJ5	3762	HP:0004467	Preauricular pit
OMIM:170390	KCNJ5	3762	HP:0000581	Blepharophimosis
OMIM:170390	KCNJ5	3762	HP:0000414	Bulbous nose
OMIM:170390	KCNJ5	3762	HP:0001773	Short foot
OMIM:170390	KCNJ5	3762	HP:0012745	Short palpebral fissure
OMIM:170390	KCNJ5	3762	HP:0002650	Scoliosis
OMIM:170390	KCNJ2	3759	HP:0001507	Growth abnormality
OMIM:170390	KCNJ2	3759	HP:0002750	Delayed skeletal maturation
OMIM:170390	KCNJ2	3759	HP:0000252	Microcephaly
OMIM:170390	KCNJ2	3759	HP:0000337	Broad forehead
OMIM:170390	KCNJ2	3759	HP:0004279	Short palm
OMIM:170390	KCNJ2	3759	HP:0010743	Short metatarsal
OMIM:170390	KCNJ2	3759	HP:0000175	Cleft palate
OMIM:170390	KCNJ2	3759	HP:0003691	Scapular winging
OMIM:170390	KCNJ2	3759	HP:0000316	Hypertelorism
OMIM:170390	KCNJ2	3759	HP:0001388	Joint laxity
OMIM:170390	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:170390	KCNJ2	3759	HP:0001962	Palpitations
OMIM:170390	KCNJ2	3759	HP:0001328	Specific learning disability
OMIM:170390	KCNJ2	3759	HP:0004209	Clinodactyly of the 5th finger
OMIM:170390	KCNJ2	3759	HP:0000272	Malar flattening
OMIM:170390	KCNJ2	3759	HP:0000696	Delayed eruption of permanent teeth
OMIM:170390	KCNJ2	3759	HP:0006335	Persistence of primary teeth
OMIM:170390	KCNJ2	3759	HP:0200055	Small hand
OMIM:170390	KCNJ2	3759	HP:0010049	Short metacarpal
OMIM:170390	KCNJ2	3759	HP:0000324	Facial asymmetry
OMIM:170390	KCNJ2	3759	HP:0000219	Thin upper lip vermilion
OMIM:170390	KCNJ2	3759	HP:0003100	Slender long bone
OMIM:170390	KCNJ2	3759	HP:0006297	Hypoplasia of dental enamel
OMIM:170390	KCNJ2	3759	HP:0001657	Prolonged QT interval
OMIM:170390	KCNJ2	3759	HP:0001770	Toe syndactyly
OMIM:170390	KCNJ2	3759	HP:0000369	Low-set ears
OMIM:170390	KCNJ2	3759	HP:0009803	Short phalanx of finger
OMIM:170390	KCNJ2	3759	HP:0000325	Triangular face
OMIM:170390	KCNJ2	3759	HP:0000327	Hypoplasia of the maxilla
OMIM:170390	KCNJ2	3759	HP:0000218	High palate
OMIM:170390	KCNJ2	3759	HP:0001156	Brachydactyly syndrome
OMIM:170390	KCNJ2	3759	HP:0001279	Syncope
OMIM:170390	KCNJ2	3759	HP:0004467	Preauricular pit
OMIM:170390	KCNJ2	3759	HP:0000581	Blepharophimosis
OMIM:170390	KCNJ2	3759	HP:0000414	Bulbous nose
OMIM:170390	KCNJ2	3759	HP:0001773	Short foot
OMIM:170390	KCNJ2	3759	HP:0012745	Short palpebral fissure
OMIM:170390	KCNJ2	3759	HP:0002650	Scoliosis
OMIM:613156	POMT2	29954	HP:0002119	Ventriculomegaly
OMIM:613156	POMT2	29954	HP:0001249	Intellectual disability
OMIM:613156	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613156	POMT2	29954	HP:0001371	Flexion contracture
OMIM:613156	POMT2	29954	HP:0001284	Areflexia
OMIM:613156	POMT2	29954	HP:0001252	Muscular hypotonia
OMIM:613156	POMT2	29954	HP:0003307	Hyperlordosis
OMIM:613156	POMT2	29954	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613156	POMT2	29954	HP:0002120	Cerebral cortical atrophy
OMIM:613156	POMT2	29954	HP:0000158	Macroglossia
OMIM:613156	POMT2	29954	HP:0000054	Micropenis
OMIM:613156	POMT2	29954	HP:0000545	Myopia
OMIM:613156	POMT2	29954	HP:0002827	Hip dislocation
OMIM:613156	POMT2	29954	HP:0002650	Scoliosis
OMIM:613156	POMT2	29954	HP:0002093	Respiratory insufficiency
OMIM:613156	POMT2	29954	HP:0000194	Open mouth
OMIM:613156	POMT2	29954	HP:0003324	Generalized muscle weakness
OMIM:613156	POMT2	29954	HP:0003741	Congenital muscular dystrophy
OMIM:613156	POMT2	29954	HP:0001270	Motor delay
OMIM:613156	POMT2	29954	HP:0000580	Pigmentary retinopathy
OMIM:613156	POMT2	29954	HP:0001265	Hyporeflexia
OMIM:613156	POMT2	29954	HP:0000028	Cryptorchidism
OMIM:613156	POMT2	29954	HP:0000252	Microcephaly
OMIM:613156	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:613156	POMT2	29954	HP:0010628	Facial palsy
OMIM:613156	POMT2	29954	HP:0000486	Strabismus
OMIM:613156	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:613156	POMT2	29954	HP:0001712	Left ventricular hypertrophy
OMIM:613156	POMT2	29954	HP:0003701	Proximal muscle weakness
OMIM:613156	GMPPB	29925	HP:0002119	Ventriculomegaly
OMIM:613156	GMPPB	29925	HP:0001249	Intellectual disability
OMIM:613156	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613156	GMPPB	29925	HP:0001371	Flexion contracture
OMIM:613156	GMPPB	29925	HP:0001284	Areflexia
OMIM:613156	GMPPB	29925	HP:0001252	Muscular hypotonia
OMIM:613156	GMPPB	29925	HP:0003307	Hyperlordosis
OMIM:613156	GMPPB	29925	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613156	GMPPB	29925	HP:0002120	Cerebral cortical atrophy
OMIM:613156	GMPPB	29925	HP:0000158	Macroglossia
OMIM:613156	GMPPB	29925	HP:0000054	Micropenis
OMIM:613156	GMPPB	29925	HP:0000545	Myopia
OMIM:613156	GMPPB	29925	HP:0002827	Hip dislocation
OMIM:613156	GMPPB	29925	HP:0002650	Scoliosis
OMIM:613156	GMPPB	29925	HP:0002093	Respiratory insufficiency
OMIM:613156	GMPPB	29925	HP:0000194	Open mouth
OMIM:613156	GMPPB	29925	HP:0003324	Generalized muscle weakness
OMIM:613156	GMPPB	29925	HP:0003741	Congenital muscular dystrophy
OMIM:613156	GMPPB	29925	HP:0001270	Motor delay
OMIM:613156	GMPPB	29925	HP:0000580	Pigmentary retinopathy
OMIM:613156	GMPPB	29925	HP:0001265	Hyporeflexia
OMIM:613156	GMPPB	29925	HP:0000028	Cryptorchidism
OMIM:613156	GMPPB	29925	HP:0000252	Microcephaly
OMIM:613156	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:613156	GMPPB	29925	HP:0010628	Facial palsy
OMIM:613156	GMPPB	29925	HP:0000486	Strabismus
OMIM:613156	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:613156	GMPPB	29925	HP:0001712	Left ventricular hypertrophy
OMIM:613156	GMPPB	29925	HP:0003701	Proximal muscle weakness
OMIM:613156	POMGNT1	55624	HP:0002119	Ventriculomegaly
OMIM:613156	POMGNT1	55624	HP:0001249	Intellectual disability
OMIM:613156	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613156	POMGNT1	55624	HP:0001371	Flexion contracture
OMIM:613156	POMGNT1	55624	HP:0001284	Areflexia
OMIM:613156	POMGNT1	55624	HP:0001252	Muscular hypotonia
OMIM:613156	POMGNT1	55624	HP:0003307	Hyperlordosis
OMIM:613156	POMGNT1	55624	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613156	POMGNT1	55624	HP:0002120	Cerebral cortical atrophy
OMIM:613156	POMGNT1	55624	HP:0000158	Macroglossia
OMIM:613156	POMGNT1	55624	HP:0000054	Micropenis
OMIM:613156	POMGNT1	55624	HP:0000545	Myopia
OMIM:613156	POMGNT1	55624	HP:0002827	Hip dislocation
OMIM:613156	POMGNT1	55624	HP:0002650	Scoliosis
OMIM:613156	POMGNT1	55624	HP:0002093	Respiratory insufficiency
OMIM:613156	POMGNT1	55624	HP:0000194	Open mouth
OMIM:613156	POMGNT1	55624	HP:0003324	Generalized muscle weakness
OMIM:613156	POMGNT1	55624	HP:0003741	Congenital muscular dystrophy
OMIM:613156	POMGNT1	55624	HP:0001270	Motor delay
OMIM:613156	POMGNT1	55624	HP:0000580	Pigmentary retinopathy
OMIM:613156	POMGNT1	55624	HP:0001265	Hyporeflexia
OMIM:613156	POMGNT1	55624	HP:0000028	Cryptorchidism
OMIM:613156	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:613156	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:613156	POMGNT1	55624	HP:0010628	Facial palsy
OMIM:613156	POMGNT1	55624	HP:0000486	Strabismus
OMIM:613156	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:613156	POMGNT1	55624	HP:0001712	Left ventricular hypertrophy
OMIM:613156	POMGNT1	55624	HP:0003701	Proximal muscle weakness
OMIM:613156	POMT1	10585	HP:0002119	Ventriculomegaly
OMIM:613156	POMT1	10585	HP:0001249	Intellectual disability
OMIM:613156	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613156	POMT1	10585	HP:0001371	Flexion contracture
OMIM:613156	POMT1	10585	HP:0001284	Areflexia
OMIM:613156	POMT1	10585	HP:0001252	Muscular hypotonia
OMIM:613156	POMT1	10585	HP:0003307	Hyperlordosis
OMIM:613156	POMT1	10585	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613156	POMT1	10585	HP:0002120	Cerebral cortical atrophy
OMIM:613156	POMT1	10585	HP:0000158	Macroglossia
OMIM:613156	POMT1	10585	HP:0000054	Micropenis
OMIM:613156	POMT1	10585	HP:0000545	Myopia
OMIM:613156	POMT1	10585	HP:0002827	Hip dislocation
OMIM:613156	POMT1	10585	HP:0002650	Scoliosis
OMIM:613156	POMT1	10585	HP:0002093	Respiratory insufficiency
OMIM:613156	POMT1	10585	HP:0000194	Open mouth
OMIM:613156	POMT1	10585	HP:0003324	Generalized muscle weakness
OMIM:613156	POMT1	10585	HP:0003741	Congenital muscular dystrophy
OMIM:613156	POMT1	10585	HP:0001270	Motor delay
OMIM:613156	POMT1	10585	HP:0000580	Pigmentary retinopathy
OMIM:613156	POMT1	10585	HP:0001265	Hyporeflexia
OMIM:613156	POMT1	10585	HP:0000028	Cryptorchidism
OMIM:613156	POMT1	10585	HP:0000252	Microcephaly
OMIM:613156	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:613156	POMT1	10585	HP:0010628	Facial palsy
OMIM:613156	POMT1	10585	HP:0000486	Strabismus
OMIM:613156	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:613156	POMT1	10585	HP:0001712	Left ventricular hypertrophy
OMIM:613156	POMT1	10585	HP:0003701	Proximal muscle weakness
OMIM:613156	FKRP	79147	HP:0002119	Ventriculomegaly
OMIM:613156	FKRP	79147	HP:0001249	Intellectual disability
OMIM:613156	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613156	FKRP	79147	HP:0001371	Flexion contracture
OMIM:613156	FKRP	79147	HP:0001284	Areflexia
OMIM:613156	FKRP	79147	HP:0001252	Muscular hypotonia
OMIM:613156	FKRP	79147	HP:0003307	Hyperlordosis
OMIM:613156	FKRP	79147	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613156	FKRP	79147	HP:0002120	Cerebral cortical atrophy
OMIM:613156	FKRP	79147	HP:0000158	Macroglossia
OMIM:613156	FKRP	79147	HP:0000054	Micropenis
OMIM:613156	FKRP	79147	HP:0000545	Myopia
OMIM:613156	FKRP	79147	HP:0002827	Hip dislocation
OMIM:613156	FKRP	79147	HP:0002650	Scoliosis
OMIM:613156	FKRP	79147	HP:0002093	Respiratory insufficiency
OMIM:613156	FKRP	79147	HP:0000194	Open mouth
OMIM:613156	FKRP	79147	HP:0003324	Generalized muscle weakness
OMIM:613156	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:613156	FKRP	79147	HP:0001270	Motor delay
OMIM:613156	FKRP	79147	HP:0000580	Pigmentary retinopathy
OMIM:613156	FKRP	79147	HP:0001265	Hyporeflexia
OMIM:613156	FKRP	79147	HP:0000028	Cryptorchidism
OMIM:613156	FKRP	79147	HP:0000252	Microcephaly
OMIM:613156	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:613156	FKRP	79147	HP:0010628	Facial palsy
OMIM:613156	FKRP	79147	HP:0000486	Strabismus
OMIM:613156	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:613156	FKRP	79147	HP:0001712	Left ventricular hypertrophy
OMIM:613156	FKRP	79147	HP:0003701	Proximal muscle weakness
OMIM:613156	LARGE	9215	HP:0002119	Ventriculomegaly
OMIM:613156	LARGE	9215	HP:0001249	Intellectual disability
OMIM:613156	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613156	LARGE	9215	HP:0001371	Flexion contracture
OMIM:613156	LARGE	9215	HP:0001284	Areflexia
OMIM:613156	LARGE	9215	HP:0001252	Muscular hypotonia
OMIM:613156	LARGE	9215	HP:0003307	Hyperlordosis
OMIM:613156	LARGE	9215	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613156	LARGE	9215	HP:0002120	Cerebral cortical atrophy
OMIM:613156	LARGE	9215	HP:0000158	Macroglossia
OMIM:613156	LARGE	9215	HP:0000054	Micropenis
OMIM:613156	LARGE	9215	HP:0000545	Myopia
OMIM:613156	LARGE	9215	HP:0002827	Hip dislocation
OMIM:613156	LARGE	9215	HP:0002650	Scoliosis
OMIM:613156	LARGE	9215	HP:0002093	Respiratory insufficiency
OMIM:613156	LARGE	9215	HP:0000194	Open mouth
OMIM:613156	LARGE	9215	HP:0003324	Generalized muscle weakness
OMIM:613156	LARGE	9215	HP:0003741	Congenital muscular dystrophy
OMIM:613156	LARGE	9215	HP:0001270	Motor delay
OMIM:613156	LARGE	9215	HP:0000580	Pigmentary retinopathy
OMIM:613156	LARGE	9215	HP:0001265	Hyporeflexia
OMIM:613156	LARGE	9215	HP:0000028	Cryptorchidism
OMIM:613156	LARGE	9215	HP:0000252	Microcephaly
OMIM:613156	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:613156	LARGE	9215	HP:0010628	Facial palsy
OMIM:613156	LARGE	9215	HP:0000486	Strabismus
OMIM:613156	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:613156	LARGE	9215	HP:0001712	Left ventricular hypertrophy
OMIM:613156	LARGE	9215	HP:0003701	Proximal muscle weakness
OMIM:226750	ROGDI	79641	HP:0002521	Hypsarrhythmia
OMIM:226750	ROGDI	79641	HP:0002119	Ventriculomegaly
OMIM:226750	ROGDI	79641	HP:0001321	Cerebellar hypoplasia
OMIM:226750	ROGDI	79641	HP:0001250	Seizures
OMIM:226750	ROGDI	79641	HP:0002353	EEG abnormality
OMIM:226750	ROGDI	79641	HP:0001251	Ataxia
OMIM:226750	ROGDI	79641	HP:0002376	Developmental regression
OMIM:226750	ROGDI	79641	HP:0001276	Hypertonia
OMIM:226750	ROGDI	79641	HP:0004322	Short stature
OMIM:226750	ROGDI	79641	HP:0006297	Hypoplasia of dental enamel
OMIM:226750	ROGDI	79641	HP:0000238	Hydrocephalus
OMIM:226750	ROGDI	79641	HP:0001263	Global developmental delay
OMIM:226750	ROGDI	79641	HP:0001257	Spasticity
OMIM:226750	ROGDI	79641	HP:0000726	Dementia
OMIM:226750	ROGDI	79641	HP:0000007	Autosomal recessive inheritance
OMIM:226750	ROGDI	79641	HP:0002059	Cerebral atrophy
OMIM:226750	ROGDI	79641	HP:0010864	Intellectual disability, severe
OMIM:226750	ROGDI	79641	HP:0200134	Epileptic encephalopathy
OMIM:226750	ROGDI	79641	HP:0000966	Hypohidrosis
OMIM:226750	ROGDI	79641	HP:0003828	Variable expressivity
OMIM:226750	ROGDI	79641	HP:0000682	Abnormality of dental enamel
OMIM:614158	TBXAS1	6916	HP:0000978	Bruising susceptibility
OMIM:614158	TBXAS1	6916	HP:0000006	Autosomal dominant inheritance
OMIM:614158	TBXAS1	6916	HP:0000421	Epistaxis
OMIM:614158	TBXAS1	6916	HP:0003010	Prolonged bleeding time
OMIM:615473	KCNB1	3745	HP:0002072	Chorea
OMIM:615473	KCNB1	3745	HP:0002521	Hypsarrhythmia
OMIM:615473	KCNB1	3745	HP:0000006	Autosomal dominant inheritance
OMIM:615473	KCNB1	3745	HP:0001263	Global developmental delay
OMIM:615473	KCNB1	3745	HP:0012448	Delayed myelination
OMIM:615473	KCNB1	3745	HP:0002305	Athetosis
OMIM:615473	KCNB1	3745	HP:0001332	Dystonia
OMIM:615473	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:615473	KCNB1	3745	HP:0002059	Cerebral atrophy
OMIM:615473	KCNB1	3745	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	KCNB1	3745	HP:0010818	Generalized tonic seizures
OMIM:615473	KCNB1	3745	HP:0001344	Absent speech
OMIM:615473	PIGQ	9091	HP:0002072	Chorea
OMIM:615473	PIGQ	9091	HP:0002521	Hypsarrhythmia
OMIM:615473	PIGQ	9091	HP:0000006	Autosomal dominant inheritance
OMIM:615473	PIGQ	9091	HP:0001263	Global developmental delay
OMIM:615473	PIGQ	9091	HP:0012448	Delayed myelination
OMIM:615473	PIGQ	9091	HP:0002305	Athetosis
OMIM:615473	PIGQ	9091	HP:0001332	Dystonia
OMIM:615473	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:615473	PIGQ	9091	HP:0002059	Cerebral atrophy
OMIM:615473	PIGQ	9091	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	PIGQ	9091	HP:0010818	Generalized tonic seizures
OMIM:615473	PIGQ	9091	HP:0001344	Absent speech
OMIM:615473	SLC25A22	79751	HP:0002072	Chorea
OMIM:615473	SLC25A22	79751	HP:0002521	Hypsarrhythmia
OMIM:615473	SLC25A22	79751	HP:0000006	Autosomal dominant inheritance
OMIM:615473	SLC25A22	79751	HP:0001263	Global developmental delay
OMIM:615473	SLC25A22	79751	HP:0012448	Delayed myelination
OMIM:615473	SLC25A22	79751	HP:0002305	Athetosis
OMIM:615473	SLC25A22	79751	HP:0001332	Dystonia
OMIM:615473	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:615473	SLC25A22	79751	HP:0002059	Cerebral atrophy
OMIM:615473	SLC25A22	79751	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	SLC25A22	79751	HP:0010818	Generalized tonic seizures
OMIM:615473	SLC25A22	79751	HP:0001344	Absent speech
OMIM:615473	CDKL5	6792	HP:0002072	Chorea
OMIM:615473	CDKL5	6792	HP:0002521	Hypsarrhythmia
OMIM:615473	CDKL5	6792	HP:0000006	Autosomal dominant inheritance
OMIM:615473	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:615473	CDKL5	6792	HP:0012448	Delayed myelination
OMIM:615473	CDKL5	6792	HP:0002305	Athetosis
OMIM:615473	CDKL5	6792	HP:0001332	Dystonia
OMIM:615473	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:615473	CDKL5	6792	HP:0002059	Cerebral atrophy
OMIM:615473	CDKL5	6792	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	CDKL5	6792	HP:0010818	Generalized tonic seizures
OMIM:615473	CDKL5	6792	HP:0001344	Absent speech
OMIM:615473	KCNQ2	3785	HP:0002072	Chorea
OMIM:615473	KCNQ2	3785	HP:0002521	Hypsarrhythmia
OMIM:615473	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:615473	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:615473	KCNQ2	3785	HP:0012448	Delayed myelination
OMIM:615473	KCNQ2	3785	HP:0002305	Athetosis
OMIM:615473	KCNQ2	3785	HP:0001332	Dystonia
OMIM:615473	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:615473	KCNQ2	3785	HP:0002059	Cerebral atrophy
OMIM:615473	KCNQ2	3785	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	KCNQ2	3785	HP:0010818	Generalized tonic seizures
OMIM:615473	KCNQ2	3785	HP:0001344	Absent speech
OMIM:615473	SLC13A5	284111	HP:0002072	Chorea
OMIM:615473	SLC13A5	284111	HP:0002521	Hypsarrhythmia
OMIM:615473	SLC13A5	284111	HP:0000006	Autosomal dominant inheritance
OMIM:615473	SLC13A5	284111	HP:0001263	Global developmental delay
OMIM:615473	SLC13A5	284111	HP:0012448	Delayed myelination
OMIM:615473	SLC13A5	284111	HP:0002305	Athetosis
OMIM:615473	SLC13A5	284111	HP:0001332	Dystonia
OMIM:615473	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:615473	SLC13A5	284111	HP:0002059	Cerebral atrophy
OMIM:615473	SLC13A5	284111	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	SLC13A5	284111	HP:0010818	Generalized tonic seizures
OMIM:615473	SLC13A5	284111	HP:0001344	Absent speech
OMIM:615473	SIK1	150094	HP:0002072	Chorea
OMIM:615473	SIK1	150094	HP:0002521	Hypsarrhythmia
OMIM:615473	SIK1	150094	HP:0000006	Autosomal dominant inheritance
OMIM:615473	SIK1	150094	HP:0001263	Global developmental delay
OMIM:615473	SIK1	150094	HP:0012448	Delayed myelination
OMIM:615473	SIK1	150094	HP:0002305	Athetosis
OMIM:615473	SIK1	150094	HP:0001332	Dystonia
OMIM:615473	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:615473	SIK1	150094	HP:0002059	Cerebral atrophy
OMIM:615473	SIK1	150094	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	SIK1	150094	HP:0010818	Generalized tonic seizures
OMIM:615473	SIK1	150094	HP:0001344	Absent speech
OMIM:615473	HCN1	348980	HP:0002072	Chorea
OMIM:615473	HCN1	348980	HP:0002521	Hypsarrhythmia
OMIM:615473	HCN1	348980	HP:0000006	Autosomal dominant inheritance
OMIM:615473	HCN1	348980	HP:0001263	Global developmental delay
OMIM:615473	HCN1	348980	HP:0012448	Delayed myelination
OMIM:615473	HCN1	348980	HP:0002305	Athetosis
OMIM:615473	HCN1	348980	HP:0001332	Dystonia
OMIM:615473	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:615473	HCN1	348980	HP:0002059	Cerebral atrophy
OMIM:615473	HCN1	348980	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	HCN1	348980	HP:0010818	Generalized tonic seizures
OMIM:615473	HCN1	348980	HP:0001344	Absent speech
OMIM:615473	PNKP	11284	HP:0002072	Chorea
OMIM:615473	PNKP	11284	HP:0002521	Hypsarrhythmia
OMIM:615473	PNKP	11284	HP:0000006	Autosomal dominant inheritance
OMIM:615473	PNKP	11284	HP:0001263	Global developmental delay
OMIM:615473	PNKP	11284	HP:0012448	Delayed myelination
OMIM:615473	PNKP	11284	HP:0002305	Athetosis
OMIM:615473	PNKP	11284	HP:0001332	Dystonia
OMIM:615473	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:615473	PNKP	11284	HP:0002059	Cerebral atrophy
OMIM:615473	PNKP	11284	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	PNKP	11284	HP:0010818	Generalized tonic seizures
OMIM:615473	PNKP	11284	HP:0001344	Absent speech
OMIM:615473	SCN2A	6326	HP:0002072	Chorea
OMIM:615473	SCN2A	6326	HP:0002521	Hypsarrhythmia
OMIM:615473	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:615473	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:615473	SCN2A	6326	HP:0012448	Delayed myelination
OMIM:615473	SCN2A	6326	HP:0002305	Athetosis
OMIM:615473	SCN2A	6326	HP:0001332	Dystonia
OMIM:615473	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:615473	SCN2A	6326	HP:0002059	Cerebral atrophy
OMIM:615473	SCN2A	6326	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	SCN2A	6326	HP:0010818	Generalized tonic seizures
OMIM:615473	SCN2A	6326	HP:0001344	Absent speech
OMIM:615473	GNAO1	2775	HP:0002072	Chorea
OMIM:615473	GNAO1	2775	HP:0002521	Hypsarrhythmia
OMIM:615473	GNAO1	2775	HP:0000006	Autosomal dominant inheritance
OMIM:615473	GNAO1	2775	HP:0001263	Global developmental delay
OMIM:615473	GNAO1	2775	HP:0012448	Delayed myelination
OMIM:615473	GNAO1	2775	HP:0002305	Athetosis
OMIM:615473	GNAO1	2775	HP:0001332	Dystonia
OMIM:615473	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:615473	GNAO1	2775	HP:0002059	Cerebral atrophy
OMIM:615473	GNAO1	2775	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	GNAO1	2775	HP:0010818	Generalized tonic seizures
OMIM:615473	GNAO1	2775	HP:0001344	Absent speech
OMIM:615473	NECAP1	25977	HP:0002072	Chorea
OMIM:615473	NECAP1	25977	HP:0002521	Hypsarrhythmia
OMIM:615473	NECAP1	25977	HP:0000006	Autosomal dominant inheritance
OMIM:615473	NECAP1	25977	HP:0001263	Global developmental delay
OMIM:615473	NECAP1	25977	HP:0012448	Delayed myelination
OMIM:615473	NECAP1	25977	HP:0002305	Athetosis
OMIM:615473	NECAP1	25977	HP:0001332	Dystonia
OMIM:615473	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:615473	NECAP1	25977	HP:0002059	Cerebral atrophy
OMIM:615473	NECAP1	25977	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	NECAP1	25977	HP:0010818	Generalized tonic seizures
OMIM:615473	NECAP1	25977	HP:0001344	Absent speech
OMIM:615473	ARX	170302	HP:0002072	Chorea
OMIM:615473	ARX	170302	HP:0002521	Hypsarrhythmia
OMIM:615473	ARX	170302	HP:0000006	Autosomal dominant inheritance
OMIM:615473	ARX	170302	HP:0001263	Global developmental delay
OMIM:615473	ARX	170302	HP:0012448	Delayed myelination
OMIM:615473	ARX	170302	HP:0002305	Athetosis
OMIM:615473	ARX	170302	HP:0001332	Dystonia
OMIM:615473	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:615473	ARX	170302	HP:0002059	Cerebral atrophy
OMIM:615473	ARX	170302	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	ARX	170302	HP:0010818	Generalized tonic seizures
OMIM:615473	ARX	170302	HP:0001344	Absent speech
OMIM:615473	STXBP1	6812	HP:0002072	Chorea
OMIM:615473	STXBP1	6812	HP:0002521	Hypsarrhythmia
OMIM:615473	STXBP1	6812	HP:0000006	Autosomal dominant inheritance
OMIM:615473	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:615473	STXBP1	6812	HP:0012448	Delayed myelination
OMIM:615473	STXBP1	6812	HP:0002305	Athetosis
OMIM:615473	STXBP1	6812	HP:0001332	Dystonia
OMIM:615473	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:615473	STXBP1	6812	HP:0002059	Cerebral atrophy
OMIM:615473	STXBP1	6812	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	STXBP1	6812	HP:0010818	Generalized tonic seizures
OMIM:615473	STXBP1	6812	HP:0001344	Absent speech
OMIM:615473	WWOX	51741	HP:0002072	Chorea
OMIM:615473	WWOX	51741	HP:0002521	Hypsarrhythmia
OMIM:615473	WWOX	51741	HP:0000006	Autosomal dominant inheritance
OMIM:615473	WWOX	51741	HP:0001263	Global developmental delay
OMIM:615473	WWOX	51741	HP:0012448	Delayed myelination
OMIM:615473	WWOX	51741	HP:0002305	Athetosis
OMIM:615473	WWOX	51741	HP:0001332	Dystonia
OMIM:615473	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:615473	WWOX	51741	HP:0002059	Cerebral atrophy
OMIM:615473	WWOX	51741	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	WWOX	51741	HP:0010818	Generalized tonic seizures
OMIM:615473	WWOX	51741	HP:0001344	Absent speech
OMIM:615473	CASK	8573	HP:0002072	Chorea
OMIM:615473	CASK	8573	HP:0002521	Hypsarrhythmia
OMIM:615473	CASK	8573	HP:0000006	Autosomal dominant inheritance
OMIM:615473	CASK	8573	HP:0001263	Global developmental delay
OMIM:615473	CASK	8573	HP:0012448	Delayed myelination
OMIM:615473	CASK	8573	HP:0002305	Athetosis
OMIM:615473	CASK	8573	HP:0001332	Dystonia
OMIM:615473	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:615473	CASK	8573	HP:0002059	Cerebral atrophy
OMIM:615473	CASK	8573	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	CASK	8573	HP:0010818	Generalized tonic seizures
OMIM:615473	CASK	8573	HP:0001344	Absent speech
OMIM:615473	SCN8A	6334	HP:0002072	Chorea
OMIM:615473	SCN8A	6334	HP:0002521	Hypsarrhythmia
OMIM:615473	SCN8A	6334	HP:0000006	Autosomal dominant inheritance
OMIM:615473	SCN8A	6334	HP:0001263	Global developmental delay
OMIM:615473	SCN8A	6334	HP:0012448	Delayed myelination
OMIM:615473	SCN8A	6334	HP:0002305	Athetosis
OMIM:615473	SCN8A	6334	HP:0001332	Dystonia
OMIM:615473	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:615473	SCN8A	6334	HP:0002059	Cerebral atrophy
OMIM:615473	SCN8A	6334	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	SCN8A	6334	HP:0010818	Generalized tonic seizures
OMIM:615473	SCN8A	6334	HP:0001344	Absent speech
OMIM:615473	DNM1	1759	HP:0002072	Chorea
OMIM:615473	DNM1	1759	HP:0002521	Hypsarrhythmia
OMIM:615473	DNM1	1759	HP:0000006	Autosomal dominant inheritance
OMIM:615473	DNM1	1759	HP:0001263	Global developmental delay
OMIM:615473	DNM1	1759	HP:0012448	Delayed myelination
OMIM:615473	DNM1	1759	HP:0002305	Athetosis
OMIM:615473	DNM1	1759	HP:0001332	Dystonia
OMIM:615473	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:615473	DNM1	1759	HP:0002059	Cerebral atrophy
OMIM:615473	DNM1	1759	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615473	DNM1	1759	HP:0010818	Generalized tonic seizures
OMIM:615473	DNM1	1759	HP:0001344	Absent speech
OMIM:241080	DCAF17	80067	HP:0000078	Abnormality of the genital system
OMIM:241080	DCAF17	80067	HP:0002213	Fine hair
OMIM:241080	DCAF17	80067	HP:0001260	Dysarthria
OMIM:241080	DCAF17	80067	HP:0008697	Hypoplasia of the fallopian tube
OMIM:241080	DCAF17	80067	HP:0005135	EKG: T-wave abnormalities
OMIM:241080	DCAF17	80067	HP:0000815	Hypergonadotropic hypogonadism
OMIM:241080	DCAF17	80067	HP:0008734	Decreased testicular size
OMIM:241080	DCAF17	80067	HP:0000426	Prominent nasal bridge
OMIM:241080	DCAF17	80067	HP:0100543	Cognitive impairment
OMIM:241080	DCAF17	80067	HP:0000411	Protruding ear
OMIM:241080	DCAF17	80067	HP:0000013	Hypoplasia of the uterus
OMIM:241080	DCAF17	80067	HP:0011675	Arrhythmia
OMIM:241080	DCAF17	80067	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:241080	DCAF17	80067	HP:0003812	Phenotypic variability
OMIM:241080	DCAF17	80067	HP:0000054	Micropenis
OMIM:241080	DCAF17	80067	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:241080	DCAF17	80067	HP:0001332	Dystonia
OMIM:241080	DCAF17	80067	HP:0000365	Hearing impairment
OMIM:241080	DCAF17	80067	HP:0000738	Hallucinations
OMIM:241080	DCAF17	80067	HP:0000007	Autosomal recessive inheritance
OMIM:241080	DCAF17	80067	HP:0000709	Psychosis
OMIM:241080	DCAF17	80067	HP:0000819	Diabetes mellitus
OMIM:241080	DCAF17	80067	HP:0001266	Choreoathetosis
OMIM:241080	DCAF17	80067	HP:0040171	Decreased serum testosterone level
OMIM:241080	DCAF17	80067	HP:0000674	Anodontia
OMIM:241080	DCAF17	80067	HP:0000407	Sensorineural hearing impairment
OMIM:241080	DCAF17	80067	HP:0000325	Triangular face
OMIM:241080	DCAF17	80067	HP:0001249	Intellectual disability
OMIM:241080	DCAF17	80067	HP:0008070	Sparse hair
OMIM:241080	DCAF17	80067	HP:0001596	Alopecia
OMIM:241080	DCAF17	80067	HP:0003077	Hyperlipidemia
OMIM:604129	COL7A1	1294	HP:0000987	Atypical scarring of skin
OMIM:604129	COL7A1	1294	HP:0001030	Fragile skin
OMIM:604129	COL7A1	1294	HP:0008404	Nail dystrophy
OMIM:604129	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
OMIM:604129	COL7A1	1294	HP:0001597	Abnormality of the nail
OMIM:604129	COL7A1	1294	HP:0002164	Nail dysplasia
OMIM:604129	COL7A1	1294	HP:0000007	Autosomal recessive inheritance
OMIM:604129	COL7A1	1294	HP:0000963	Thin skin
OMIM:604129	COL7A1	1294	HP:0000989	Pruritus
OMIM:601815	PHGDH	26227	HP:0001250	Seizures
OMIM:601815	PHGDH	26227	HP:0001181	Adducted thumb
OMIM:601815	PHGDH	26227	HP:0002510	Spastic tetraplegia
OMIM:601815	PHGDH	26227	HP:0000639	Nystagmus
OMIM:601815	PHGDH	26227	HP:0001510	Growth delay
OMIM:601815	PHGDH	26227	HP:0000007	Autosomal recessive inheritance
OMIM:601815	PHGDH	26227	HP:0001873	Thrombocytopenia
OMIM:601815	PHGDH	26227	HP:0008734	Decreased testicular size
OMIM:601815	PHGDH	26227	HP:0000519	Congenital cataract
OMIM:601815	PHGDH	26227	HP:0001249	Intellectual disability
OMIM:601815	PHGDH	26227	HP:0001889	Megaloblastic anemia
OMIM:601815	PHGDH	26227	HP:0002521	Hypsarrhythmia
OMIM:601815	PHGDH	26227	HP:0011451	Congenital microcephaly
OMIM:608456	MUTYH	4595	HP:0000007	Autosomal recessive inheritance
OMIM:612347	KCNQ1	3784	HP:0000407	Sensorineural hearing impairment
OMIM:612347	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:612347	KCNQ1	3784	HP:0001279	Syncope
OMIM:612347	KCNQ1	3784	HP:0000007	Autosomal recessive inheritance
OMIM:612347	KCNE1	3753	HP:0000407	Sensorineural hearing impairment
OMIM:612347	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:612347	KCNE1	3753	HP:0001279	Syncope
OMIM:612347	KCNE1	3753	HP:0000007	Autosomal recessive inheritance
OMIM:614970	CEP41	95681	HP:0000657	Oculomotor apraxia
OMIM:614970	CEP41	95681	HP:0000488	Retinopathy
OMIM:614970	CEP41	95681	HP:0003577	Congenital onset
OMIM:614970	CEP41	95681	HP:0000718	Aggressive behavior
OMIM:614970	CEP41	95681	HP:0001344	Absent speech
OMIM:614970	CEP41	95681	HP:0002093	Respiratory insufficiency
OMIM:614970	CEP41	95681	HP:0000107	Renal cyst
OMIM:614970	CEP41	95681	HP:0002419	Molar tooth sign on MRI
OMIM:614970	CEP41	95681	HP:0000007	Autosomal recessive inheritance
OMIM:614970	CEP41	95681	HP:0001263	Global developmental delay
OMIM:614970	CEP41	95681	HP:0001159	Syndactyly
OMIM:614970	CEP41	95681	HP:0000742	Self-mutilation
OMIM:614970	CEP41	95681	HP:0100259	Postaxial polydactyly
OMIM:614970	C5ORF42	65250	HP:0000657	Oculomotor apraxia
OMIM:614970	C5ORF42	65250	HP:0000488	Retinopathy
OMIM:614970	C5ORF42	65250	HP:0003577	Congenital onset
OMIM:614970	C5ORF42	65250	HP:0000718	Aggressive behavior
OMIM:614970	C5ORF42	65250	HP:0001344	Absent speech
OMIM:614970	C5ORF42	65250	HP:0002093	Respiratory insufficiency
OMIM:614970	C5ORF42	65250	HP:0000107	Renal cyst
OMIM:614970	C5ORF42	65250	HP:0002419	Molar tooth sign on MRI
OMIM:614970	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:614970	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:614970	C5ORF42	65250	HP:0001159	Syndactyly
OMIM:614970	C5ORF42	65250	HP:0000742	Self-mutilation
OMIM:614970	C5ORF42	65250	HP:0100259	Postaxial polydactyly
OMIM:614970	B9D1	27077	HP:0000657	Oculomotor apraxia
OMIM:614970	B9D1	27077	HP:0000488	Retinopathy
OMIM:614970	B9D1	27077	HP:0003577	Congenital onset
OMIM:614970	B9D1	27077	HP:0000718	Aggressive behavior
OMIM:614970	B9D1	27077	HP:0001344	Absent speech
OMIM:614970	B9D1	27077	HP:0002093	Respiratory insufficiency
OMIM:614970	B9D1	27077	HP:0000107	Renal cyst
OMIM:614970	B9D1	27077	HP:0002419	Molar tooth sign on MRI
OMIM:614970	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:614970	B9D1	27077	HP:0001263	Global developmental delay
OMIM:614970	B9D1	27077	HP:0001159	Syndactyly
OMIM:614970	B9D1	27077	HP:0000742	Self-mutilation
OMIM:614970	B9D1	27077	HP:0100259	Postaxial polydactyly
OMIM:614970	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:614970	TMEM237	65062	HP:0000488	Retinopathy
OMIM:614970	TMEM237	65062	HP:0003577	Congenital onset
OMIM:614970	TMEM237	65062	HP:0000718	Aggressive behavior
OMIM:614970	TMEM237	65062	HP:0001344	Absent speech
OMIM:614970	TMEM237	65062	HP:0002093	Respiratory insufficiency
OMIM:614970	TMEM237	65062	HP:0000107	Renal cyst
OMIM:614970	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:614970	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:614970	TMEM237	65062	HP:0001263	Global developmental delay
OMIM:614970	TMEM237	65062	HP:0001159	Syndactyly
OMIM:614970	TMEM237	65062	HP:0000742	Self-mutilation
OMIM:614970	TMEM237	65062	HP:0100259	Postaxial polydactyly
OMIM:614970	CSPP1	79848	HP:0000657	Oculomotor apraxia
OMIM:614970	CSPP1	79848	HP:0000488	Retinopathy
OMIM:614970	CSPP1	79848	HP:0003577	Congenital onset
OMIM:614970	CSPP1	79848	HP:0000718	Aggressive behavior
OMIM:614970	CSPP1	79848	HP:0001344	Absent speech
OMIM:614970	CSPP1	79848	HP:0002093	Respiratory insufficiency
OMIM:614970	CSPP1	79848	HP:0000107	Renal cyst
OMIM:614970	CSPP1	79848	HP:0002419	Molar tooth sign on MRI
OMIM:614970	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:614970	CSPP1	79848	HP:0001263	Global developmental delay
OMIM:614970	CSPP1	79848	HP:0001159	Syndactyly
OMIM:614970	CSPP1	79848	HP:0000742	Self-mutilation
OMIM:614970	CSPP1	79848	HP:0100259	Postaxial polydactyly
OMIM:614970	TMEM67	91147	HP:0000657	Oculomotor apraxia
OMIM:614970	TMEM67	91147	HP:0000488	Retinopathy
OMIM:614970	TMEM67	91147	HP:0003577	Congenital onset
OMIM:614970	TMEM67	91147	HP:0000718	Aggressive behavior
OMIM:614970	TMEM67	91147	HP:0001344	Absent speech
OMIM:614970	TMEM67	91147	HP:0002093	Respiratory insufficiency
OMIM:614970	TMEM67	91147	HP:0000107	Renal cyst
OMIM:614970	TMEM67	91147	HP:0002419	Molar tooth sign on MRI
OMIM:614970	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:614970	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:614970	TMEM67	91147	HP:0001159	Syndactyly
OMIM:614970	TMEM67	91147	HP:0000742	Self-mutilation
OMIM:614970	TMEM67	91147	HP:0100259	Postaxial polydactyly
OMIM:614970	INPP5E	56623	HP:0000657	Oculomotor apraxia
OMIM:614970	INPP5E	56623	HP:0000488	Retinopathy
OMIM:614970	INPP5E	56623	HP:0003577	Congenital onset
OMIM:614970	INPP5E	56623	HP:0000718	Aggressive behavior
OMIM:614970	INPP5E	56623	HP:0001344	Absent speech
OMIM:614970	INPP5E	56623	HP:0002093	Respiratory insufficiency
OMIM:614970	INPP5E	56623	HP:0000107	Renal cyst
OMIM:614970	INPP5E	56623	HP:0002419	Molar tooth sign on MRI
OMIM:614970	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:614970	INPP5E	56623	HP:0001263	Global developmental delay
OMIM:614970	INPP5E	56623	HP:0001159	Syndactyly
OMIM:614970	INPP5E	56623	HP:0000742	Self-mutilation
OMIM:614970	INPP5E	56623	HP:0100259	Postaxial polydactyly
OMIM:614970	TCTN1	79600	HP:0000657	Oculomotor apraxia
OMIM:614970	TCTN1	79600	HP:0000488	Retinopathy
OMIM:614970	TCTN1	79600	HP:0003577	Congenital onset
OMIM:614970	TCTN1	79600	HP:0000718	Aggressive behavior
OMIM:614970	TCTN1	79600	HP:0001344	Absent speech
OMIM:614970	TCTN1	79600	HP:0002093	Respiratory insufficiency
OMIM:614970	TCTN1	79600	HP:0000107	Renal cyst
OMIM:614970	TCTN1	79600	HP:0002419	Molar tooth sign on MRI
OMIM:614970	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:614970	TCTN1	79600	HP:0001263	Global developmental delay
OMIM:614970	TCTN1	79600	HP:0001159	Syndactyly
OMIM:614970	TCTN1	79600	HP:0000742	Self-mutilation
OMIM:614970	TCTN1	79600	HP:0100259	Postaxial polydactyly
OMIM:614970	AHI1	54806	HP:0000657	Oculomotor apraxia
OMIM:614970	AHI1	54806	HP:0000488	Retinopathy
OMIM:614970	AHI1	54806	HP:0003577	Congenital onset
OMIM:614970	AHI1	54806	HP:0000718	Aggressive behavior
OMIM:614970	AHI1	54806	HP:0001344	Absent speech
OMIM:614970	AHI1	54806	HP:0002093	Respiratory insufficiency
OMIM:614970	AHI1	54806	HP:0000107	Renal cyst
OMIM:614970	AHI1	54806	HP:0002419	Molar tooth sign on MRI
OMIM:614970	AHI1	54806	HP:0000007	Autosomal recessive inheritance
OMIM:614970	AHI1	54806	HP:0001263	Global developmental delay
OMIM:614970	AHI1	54806	HP:0001159	Syndactyly
OMIM:614970	AHI1	54806	HP:0000742	Self-mutilation
OMIM:614970	AHI1	54806	HP:0100259	Postaxial polydactyly
OMIM:614970	MKS1	54903	HP:0000657	Oculomotor apraxia
OMIM:614970	MKS1	54903	HP:0000488	Retinopathy
OMIM:614970	MKS1	54903	HP:0003577	Congenital onset
OMIM:614970	MKS1	54903	HP:0000718	Aggressive behavior
OMIM:614970	MKS1	54903	HP:0001344	Absent speech
OMIM:614970	MKS1	54903	HP:0002093	Respiratory insufficiency
OMIM:614970	MKS1	54903	HP:0000107	Renal cyst
OMIM:614970	MKS1	54903	HP:0002419	Molar tooth sign on MRI
OMIM:614970	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:614970	MKS1	54903	HP:0001263	Global developmental delay
OMIM:614970	MKS1	54903	HP:0001159	Syndactyly
OMIM:614970	MKS1	54903	HP:0000742	Self-mutilation
OMIM:614970	MKS1	54903	HP:0100259	Postaxial polydactyly
OMIM:614970	TCTN2	79867	HP:0000657	Oculomotor apraxia
OMIM:614970	TCTN2	79867	HP:0000488	Retinopathy
OMIM:614970	TCTN2	79867	HP:0003577	Congenital onset
OMIM:614970	TCTN2	79867	HP:0000718	Aggressive behavior
OMIM:614970	TCTN2	79867	HP:0001344	Absent speech
OMIM:614970	TCTN2	79867	HP:0002093	Respiratory insufficiency
OMIM:614970	TCTN2	79867	HP:0000107	Renal cyst
OMIM:614970	TCTN2	79867	HP:0002419	Molar tooth sign on MRI
OMIM:614970	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:614970	TCTN2	79867	HP:0001263	Global developmental delay
OMIM:614970	TCTN2	79867	HP:0001159	Syndactyly
OMIM:614970	TCTN2	79867	HP:0000742	Self-mutilation
OMIM:614970	TCTN2	79867	HP:0100259	Postaxial polydactyly
OMIM:614970	KIAA0586	9786	HP:0000657	Oculomotor apraxia
OMIM:614970	KIAA0586	9786	HP:0000488	Retinopathy
OMIM:614970	KIAA0586	9786	HP:0003577	Congenital onset
OMIM:614970	KIAA0586	9786	HP:0000718	Aggressive behavior
OMIM:614970	KIAA0586	9786	HP:0001344	Absent speech
OMIM:614970	KIAA0586	9786	HP:0002093	Respiratory insufficiency
OMIM:614970	KIAA0586	9786	HP:0000107	Renal cyst
OMIM:614970	KIAA0586	9786	HP:0002419	Molar tooth sign on MRI
OMIM:614970	KIAA0586	9786	HP:0000007	Autosomal recessive inheritance
OMIM:614970	KIAA0586	9786	HP:0001263	Global developmental delay
OMIM:614970	KIAA0586	9786	HP:0001159	Syndactyly
OMIM:614970	KIAA0586	9786	HP:0000742	Self-mutilation
OMIM:614970	KIAA0586	9786	HP:0100259	Postaxial polydactyly
OMIM:614970	ARL13B	200894	HP:0000657	Oculomotor apraxia
OMIM:614970	ARL13B	200894	HP:0000488	Retinopathy
OMIM:614970	ARL13B	200894	HP:0003577	Congenital onset
OMIM:614970	ARL13B	200894	HP:0000718	Aggressive behavior
OMIM:614970	ARL13B	200894	HP:0001344	Absent speech
OMIM:614970	ARL13B	200894	HP:0002093	Respiratory insufficiency
OMIM:614970	ARL13B	200894	HP:0000107	Renal cyst
OMIM:614970	ARL13B	200894	HP:0002419	Molar tooth sign on MRI
OMIM:614970	ARL13B	200894	HP:0000007	Autosomal recessive inheritance
OMIM:614970	ARL13B	200894	HP:0001263	Global developmental delay
OMIM:614970	ARL13B	200894	HP:0001159	Syndactyly
OMIM:614970	ARL13B	200894	HP:0000742	Self-mutilation
OMIM:614970	ARL13B	200894	HP:0100259	Postaxial polydactyly
OMIM:614970	TMEM231	79583	HP:0000657	Oculomotor apraxia
OMIM:614970	TMEM231	79583	HP:0000488	Retinopathy
OMIM:614970	TMEM231	79583	HP:0003577	Congenital onset
OMIM:614970	TMEM231	79583	HP:0000718	Aggressive behavior
OMIM:614970	TMEM231	79583	HP:0001344	Absent speech
OMIM:614970	TMEM231	79583	HP:0002093	Respiratory insufficiency
OMIM:614970	TMEM231	79583	HP:0000107	Renal cyst
OMIM:614970	TMEM231	79583	HP:0002419	Molar tooth sign on MRI
OMIM:614970	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:614970	TMEM231	79583	HP:0001263	Global developmental delay
OMIM:614970	TMEM231	79583	HP:0001159	Syndactyly
OMIM:614970	TMEM231	79583	HP:0000742	Self-mutilation
OMIM:614970	TMEM231	79583	HP:0100259	Postaxial polydactyly
OMIM:186100	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:186100	GJA1	2697	HP:0001831	Short toe
OMIM:186100	GJA1	2697	HP:0100490	Camptodactyly of finger
OMIM:186100	GJA1	2697	HP:0009237	Short 5th finger
OMIM:610842	GGCX	2677	HP:0000973	Cutis laxa
OMIM:610842	GGCX	2677	HP:0001102	Angioid streaks of the retina
OMIM:610842	GGCX	2677	HP:0002621	Atherosclerosis
OMIM:610842	GGCX	2677	HP:0001892	Abnormal bleeding
OMIM:610842	GGCX	2677	HP:0000007	Autosomal recessive inheritance
OMIM:610842	GGCX	2677	HP:0000421	Epistaxis
OMIM:136120	LCAT	3931	HP:0000007	Autosomal recessive inheritance
OMIM:136120	LCAT	3931	HP:0001677	Coronary artery disease
OMIM:136120	LCAT	3931	HP:0001744	Splenomegaly
OMIM:136120	LCAT	3931	HP:0002716	Lymphadenopathy
OMIM:136120	LCAT	3931	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:136120	LCAT	3931	HP:0007759	Opacification of the corneal stroma
OMIM:136120	LCAT	3931	HP:0003233	Hypoalphalipoproteinemia
OMIM:136120	LCAT	3931	HP:0002240	Hepatomegaly
OMIM:136120	LCAT	3931	HP:0002155	Hypertriglyceridemia
OMIM:613801	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613801	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613801	RLBP1	6017	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613801	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613801	SPATA7	55812	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613801	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613801	ARL6	84100	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613801	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613801	CERKL	375298	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613801	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PRPF31	26121	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613801	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613801	TTC8	123016	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613801	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PROM1	8842	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613801	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613801	LRAT	9227	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613801	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613801	IFT140	9742	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613801	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613801	BEST1	7439	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613801	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613801	NEK2	4751	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613801	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613801	ARL2BP	23568	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613801	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613801	NR2E3	10002	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613801	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613801	EYS	346007	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613801	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613801	MAK	4117	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613801	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613801	SAG	6295	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613801	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613801	ABCA4	24	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613801	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PDE6A	5145	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613801	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PDE6G	5148	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613801	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613801	IMPDH1	3614	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613801	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613801	OFD1	8481	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613801	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613801	GUCA1B	2979	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613801	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613801	NRL	4901	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613801	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PDE6B	5158	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613801	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613801	KLHL7	55975	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613801	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PRPF4	9128	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613801	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PRPF3	9129	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613801	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613801	FAM161A	84140	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613801	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613801	IFT172	26160	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613801	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613801	KIZ	55857	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613801	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613801	CDHR1	92211	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613801	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613801	ZNF408	79797	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613801	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613801	RBP3	5949	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613801	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613801	HGSNAT	138050	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613801	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613801	FSCN2	25794	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613801	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PRCD	768206	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613801	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613801	BBS2	583	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613801	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613801	RDH12	145226	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613801	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PRPH2	5961	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613801	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613801	DHDDS	79947	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613801	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613801	ROM1	6094	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613801	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613801	C2ORF71	388939	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613801	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613801	RP9	6100	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613801	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PRPF6	24148	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613801	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613801	RP1	6101	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613801	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613801	RP2	6102	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613801	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613801	RPGR	6103	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613801	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613801	SEMA4A	64218	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613801	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613801	C8ORF37	157657	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613801	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613801	IDH3B	3420	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613801	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613801	MERTK	10461	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613801	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613801	PRPF8	10594	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613801	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613801	TOPORS	10210	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613801	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613801	USH2A	7399	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613801	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613801	RPE65	6121	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613801	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613801	CLRN1	7401	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613801	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613801	CNGB1	1258	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613801	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613801	RGR	5995	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613801	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613801	CNGA1	1259	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613801	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613801	TUB	7275	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613801	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613801	SNRNP200	23020	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613801	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613801	SLC7A14	57709	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613801	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613801	TULP1	7287	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613801	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613801	RHO	6010	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613801	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613801	CA4	762	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613801	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613801	CRB1	23418	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613801	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613801	IMPG2	50939	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613801	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613801	ZNF513	130557	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613801	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613801	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613801	CRX	1406	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:616544	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:616544	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:616544	RLBP1	6017	HP:0001105	Retinal atrophy
OMIM:616544	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:616544	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:616544	SPATA7	55812	HP:0001105	Retinal atrophy
OMIM:616544	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:616544	ARL6	84100	HP:0000662	Nyctalopia
OMIM:616544	ARL6	84100	HP:0001105	Retinal atrophy
OMIM:616544	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:616544	CERKL	375298	HP:0000662	Nyctalopia
OMIM:616544	CERKL	375298	HP:0001105	Retinal atrophy
OMIM:616544	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:616544	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:616544	PRPF31	26121	HP:0001105	Retinal atrophy
OMIM:616544	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:616544	TTC8	123016	HP:0000662	Nyctalopia
OMIM:616544	TTC8	123016	HP:0001105	Retinal atrophy
OMIM:616544	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:616544	PROM1	8842	HP:0000662	Nyctalopia
OMIM:616544	PROM1	8842	HP:0001105	Retinal atrophy
OMIM:616544	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:616544	LRAT	9227	HP:0000662	Nyctalopia
OMIM:616544	LRAT	9227	HP:0001105	Retinal atrophy
OMIM:616544	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:616544	IFT140	9742	HP:0000662	Nyctalopia
OMIM:616544	IFT140	9742	HP:0001105	Retinal atrophy
OMIM:616544	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:616544	BEST1	7439	HP:0000662	Nyctalopia
OMIM:616544	BEST1	7439	HP:0001105	Retinal atrophy
OMIM:616544	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:616544	NEK2	4751	HP:0000662	Nyctalopia
OMIM:616544	NEK2	4751	HP:0001105	Retinal atrophy
OMIM:616544	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:616544	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:616544	ARL2BP	23568	HP:0001105	Retinal atrophy
OMIM:616544	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:616544	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:616544	NR2E3	10002	HP:0001105	Retinal atrophy
OMIM:616544	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:616544	EYS	346007	HP:0000662	Nyctalopia
OMIM:616544	EYS	346007	HP:0001105	Retinal atrophy
OMIM:616544	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:616544	MAK	4117	HP:0000662	Nyctalopia
OMIM:616544	MAK	4117	HP:0001105	Retinal atrophy
OMIM:616544	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:616544	SAG	6295	HP:0000662	Nyctalopia
OMIM:616544	SAG	6295	HP:0001105	Retinal atrophy
OMIM:616544	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:616544	ABCA4	24	HP:0000662	Nyctalopia
OMIM:616544	ABCA4	24	HP:0001105	Retinal atrophy
OMIM:616544	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:616544	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:616544	PDE6A	5145	HP:0001105	Retinal atrophy
OMIM:616544	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:616544	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:616544	PDE6G	5148	HP:0001105	Retinal atrophy
OMIM:616544	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:616544	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:616544	IMPDH1	3614	HP:0001105	Retinal atrophy
OMIM:616544	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:616544	OFD1	8481	HP:0000662	Nyctalopia
OMIM:616544	OFD1	8481	HP:0001105	Retinal atrophy
OMIM:616544	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:616544	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:616544	GUCA1B	2979	HP:0001105	Retinal atrophy
OMIM:616544	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:616544	NRL	4901	HP:0000662	Nyctalopia
OMIM:616544	NRL	4901	HP:0001105	Retinal atrophy
OMIM:616544	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:616544	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:616544	PDE6B	5158	HP:0001105	Retinal atrophy
OMIM:616544	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:616544	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:616544	KLHL7	55975	HP:0001105	Retinal atrophy
OMIM:616544	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:616544	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:616544	PRPF4	9128	HP:0001105	Retinal atrophy
OMIM:616544	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:616544	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:616544	PRPF3	9129	HP:0001105	Retinal atrophy
OMIM:616544	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:616544	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:616544	FAM161A	84140	HP:0001105	Retinal atrophy
OMIM:616544	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:616544	IFT172	26160	HP:0000662	Nyctalopia
OMIM:616544	IFT172	26160	HP:0001105	Retinal atrophy
OMIM:616544	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:616544	KIZ	55857	HP:0000662	Nyctalopia
OMIM:616544	KIZ	55857	HP:0001105	Retinal atrophy
OMIM:616544	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:616544	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:616544	CDHR1	92211	HP:0001105	Retinal atrophy
OMIM:616544	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:616544	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:616544	ZNF408	79797	HP:0001105	Retinal atrophy
OMIM:616544	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:616544	RBP3	5949	HP:0000662	Nyctalopia
OMIM:616544	RBP3	5949	HP:0001105	Retinal atrophy
OMIM:616544	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:616544	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:616544	HGSNAT	138050	HP:0001105	Retinal atrophy
OMIM:616544	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:616544	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:616544	FSCN2	25794	HP:0001105	Retinal atrophy
OMIM:616544	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:616544	PRCD	768206	HP:0000662	Nyctalopia
OMIM:616544	PRCD	768206	HP:0001105	Retinal atrophy
OMIM:616544	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:616544	BBS2	583	HP:0000662	Nyctalopia
OMIM:616544	BBS2	583	HP:0001105	Retinal atrophy
OMIM:616544	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:616544	RDH12	145226	HP:0000662	Nyctalopia
OMIM:616544	RDH12	145226	HP:0001105	Retinal atrophy
OMIM:616544	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:616544	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:616544	PRPH2	5961	HP:0001105	Retinal atrophy
OMIM:616544	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:616544	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:616544	DHDDS	79947	HP:0001105	Retinal atrophy
OMIM:616544	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:616544	ROM1	6094	HP:0000662	Nyctalopia
OMIM:616544	ROM1	6094	HP:0001105	Retinal atrophy
OMIM:616544	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:616544	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:616544	C2ORF71	388939	HP:0001105	Retinal atrophy
OMIM:616544	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:616544	RP9	6100	HP:0000662	Nyctalopia
OMIM:616544	RP9	6100	HP:0001105	Retinal atrophy
OMIM:616544	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:616544	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:616544	PRPF6	24148	HP:0001105	Retinal atrophy
OMIM:616544	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:616544	RP1	6101	HP:0000662	Nyctalopia
OMIM:616544	RP1	6101	HP:0001105	Retinal atrophy
OMIM:616544	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:616544	RP2	6102	HP:0000662	Nyctalopia
OMIM:616544	RP2	6102	HP:0001105	Retinal atrophy
OMIM:616544	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:616544	RPGR	6103	HP:0000662	Nyctalopia
OMIM:616544	RPGR	6103	HP:0001105	Retinal atrophy
OMIM:616544	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:616544	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:616544	SEMA4A	64218	HP:0001105	Retinal atrophy
OMIM:616544	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:616544	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:616544	C8ORF37	157657	HP:0001105	Retinal atrophy
OMIM:616544	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:616544	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:616544	IDH3B	3420	HP:0001105	Retinal atrophy
OMIM:616544	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:616544	MERTK	10461	HP:0000662	Nyctalopia
OMIM:616544	MERTK	10461	HP:0001105	Retinal atrophy
OMIM:616544	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:616544	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:616544	PRPF8	10594	HP:0001105	Retinal atrophy
OMIM:616544	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:616544	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:616544	TOPORS	10210	HP:0001105	Retinal atrophy
OMIM:616544	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:616544	USH2A	7399	HP:0000662	Nyctalopia
OMIM:616544	USH2A	7399	HP:0001105	Retinal atrophy
OMIM:616544	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:616544	RPE65	6121	HP:0000662	Nyctalopia
OMIM:616544	RPE65	6121	HP:0001105	Retinal atrophy
OMIM:616544	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:616544	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:616544	CLRN1	7401	HP:0001105	Retinal atrophy
OMIM:616544	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:616544	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:616544	CNGB1	1258	HP:0001105	Retinal atrophy
OMIM:616544	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:616544	RGR	5995	HP:0000662	Nyctalopia
OMIM:616544	RGR	5995	HP:0001105	Retinal atrophy
OMIM:616544	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:616544	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:616544	CNGA1	1259	HP:0001105	Retinal atrophy
OMIM:616544	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:616544	TUB	7275	HP:0000662	Nyctalopia
OMIM:616544	TUB	7275	HP:0001105	Retinal atrophy
OMIM:616544	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:616544	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:616544	SNRNP200	23020	HP:0001105	Retinal atrophy
OMIM:616544	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:616544	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:616544	SLC7A14	57709	HP:0001105	Retinal atrophy
OMIM:616544	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:616544	TULP1	7287	HP:0000662	Nyctalopia
OMIM:616544	TULP1	7287	HP:0001105	Retinal atrophy
OMIM:616544	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:616544	RHO	6010	HP:0000662	Nyctalopia
OMIM:616544	RHO	6010	HP:0001105	Retinal atrophy
OMIM:616544	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:616544	CA4	762	HP:0000662	Nyctalopia
OMIM:616544	CA4	762	HP:0001105	Retinal atrophy
OMIM:616544	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:616544	CRB1	23418	HP:0000662	Nyctalopia
OMIM:616544	CRB1	23418	HP:0001105	Retinal atrophy
OMIM:616544	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:616544	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:616544	IMPG2	50939	HP:0001105	Retinal atrophy
OMIM:616544	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:616544	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:616544	ZNF513	130557	HP:0001105	Retinal atrophy
OMIM:616544	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:616544	CRX	1406	HP:0000662	Nyctalopia
OMIM:616544	CRX	1406	HP:0001105	Retinal atrophy
OMIM:245010	CTSC	1075	HP:0000704	Periodontitis
OMIM:245010	CTSC	1075	HP:0001166	Arachnodactyly
OMIM:245010	CTSC	1075	HP:0001231	Abnormality of the fingernails
OMIM:245010	CTSC	1075	HP:0001369	Arthritis
OMIM:245010	CTSC	1075	HP:0000007	Autosomal recessive inheritance
OMIM:245010	CTSC	1075	HP:0000212	Gingival overgrowth
OMIM:245010	CTSC	1075	HP:0000982	Palmoplantar keratoderma
OMIM:245010	CTSC	1075	HP:0002797	Osteolysis
OMIM:245010	CTSC	1075	HP:0008388	Abnormality of the toenails
OMIM:245010	CTSC	1075	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:245010	CTSC	1075	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:245010	CTSC	1075	HP:0005406	Recurrent bacterial skin infections
OMIM:245010	CTSC	1075	HP:0001763	Pes planus
OMIM:245010	CTSC	1075	HP:0003401	Paresthesia
OMIM:245010	CTSC	1075	HP:0200042	Skin ulcer
OMIM:610181	SAMHD1	25939	HP:0001258	Spastic paraplegia
OMIM:610181	SAMHD1	25939	HP:0001332	Dystonia
OMIM:610181	SAMHD1	25939	HP:0002135	Basal ganglia calcification
OMIM:610181	SAMHD1	25939	HP:0000252	Microcephaly
OMIM:610181	SAMHD1	25939	HP:0001298	Encephalopathy
OMIM:610181	SAMHD1	25939	HP:0009704	Chronic CSF lymphocytosis
OMIM:610181	SAMHD1	25939	HP:0000007	Autosomal recessive inheritance
OMIM:610181	SAMHD1	25939	HP:0002059	Cerebral atrophy
OMIM:610181	RNASEH2B	79621	HP:0001258	Spastic paraplegia
OMIM:610181	RNASEH2B	79621	HP:0001332	Dystonia
OMIM:610181	RNASEH2B	79621	HP:0002135	Basal ganglia calcification
OMIM:610181	RNASEH2B	79621	HP:0000252	Microcephaly
OMIM:610181	RNASEH2B	79621	HP:0001298	Encephalopathy
OMIM:610181	RNASEH2B	79621	HP:0009704	Chronic CSF lymphocytosis
OMIM:610181	RNASEH2B	79621	HP:0000007	Autosomal recessive inheritance
OMIM:610181	RNASEH2B	79621	HP:0002059	Cerebral atrophy
OMIM:610181	RNASEH2A	10535	HP:0001258	Spastic paraplegia
OMIM:610181	RNASEH2A	10535	HP:0001332	Dystonia
OMIM:610181	RNASEH2A	10535	HP:0002135	Basal ganglia calcification
OMIM:610181	RNASEH2A	10535	HP:0000252	Microcephaly
OMIM:610181	RNASEH2A	10535	HP:0001298	Encephalopathy
OMIM:610181	RNASEH2A	10535	HP:0009704	Chronic CSF lymphocytosis
OMIM:610181	RNASEH2A	10535	HP:0000007	Autosomal recessive inheritance
OMIM:610181	RNASEH2A	10535	HP:0002059	Cerebral atrophy
OMIM:610181	ADAR	103	HP:0001258	Spastic paraplegia
OMIM:610181	ADAR	103	HP:0001332	Dystonia
OMIM:610181	ADAR	103	HP:0002135	Basal ganglia calcification
OMIM:610181	ADAR	103	HP:0000252	Microcephaly
OMIM:610181	ADAR	103	HP:0001298	Encephalopathy
OMIM:610181	ADAR	103	HP:0009704	Chronic CSF lymphocytosis
OMIM:610181	ADAR	103	HP:0000007	Autosomal recessive inheritance
OMIM:610181	ADAR	103	HP:0002059	Cerebral atrophy
OMIM:610181	IFIH1	64135	HP:0001258	Spastic paraplegia
OMIM:610181	IFIH1	64135	HP:0001332	Dystonia
OMIM:610181	IFIH1	64135	HP:0002135	Basal ganglia calcification
OMIM:610181	IFIH1	64135	HP:0000252	Microcephaly
OMIM:610181	IFIH1	64135	HP:0001298	Encephalopathy
OMIM:610181	IFIH1	64135	HP:0009704	Chronic CSF lymphocytosis
OMIM:610181	IFIH1	64135	HP:0000007	Autosomal recessive inheritance
OMIM:610181	IFIH1	64135	HP:0002059	Cerebral atrophy
OMIM:610181	RNASEH2C	84153	HP:0001258	Spastic paraplegia
OMIM:610181	RNASEH2C	84153	HP:0001332	Dystonia
OMIM:610181	RNASEH2C	84153	HP:0002135	Basal ganglia calcification
OMIM:610181	RNASEH2C	84153	HP:0000252	Microcephaly
OMIM:610181	RNASEH2C	84153	HP:0001298	Encephalopathy
OMIM:610181	RNASEH2C	84153	HP:0009704	Chronic CSF lymphocytosis
OMIM:610181	RNASEH2C	84153	HP:0000007	Autosomal recessive inheritance
OMIM:610181	RNASEH2C	84153	HP:0002059	Cerebral atrophy
OMIM:610181	TREX1	11277	HP:0001258	Spastic paraplegia
OMIM:610181	TREX1	11277	HP:0001332	Dystonia
OMIM:610181	TREX1	11277	HP:0002135	Basal ganglia calcification
OMIM:610181	TREX1	11277	HP:0000252	Microcephaly
OMIM:610181	TREX1	11277	HP:0001298	Encephalopathy
OMIM:610181	TREX1	11277	HP:0009704	Chronic CSF lymphocytosis
OMIM:610181	TREX1	11277	HP:0000007	Autosomal recessive inheritance
OMIM:610181	TREX1	11277	HP:0002059	Cerebral atrophy
OMIM:608027	PCLO	27445	HP:0000253	Progressive microcephaly
OMIM:608027	PCLO	27445	HP:0000648	Optic atrophy
OMIM:608027	PCLO	27445	HP:0000520	Proptosis
OMIM:608027	PCLO	27445	HP:0002421	Poor head control
OMIM:608027	PCLO	27445	HP:0001250	Seizures
OMIM:608027	PCLO	27445	HP:0002714	Downturned corners of mouth
OMIM:608027	PCLO	27445	HP:0001319	Neonatal hypotonia
OMIM:608027	PCLO	27445	HP:0000400	Macrotia
OMIM:608027	PCLO	27445	HP:0002059	Cerebral atrophy
OMIM:608027	PCLO	27445	HP:0000293	Full cheeks
OMIM:608027	PCLO	27445	HP:0002365	Hypoplasia of the brainstem
OMIM:608027	PCLO	27445	HP:0000218	High palate
OMIM:608027	PCLO	27445	HP:0002079	Hypoplasia of the corpus callosum
OMIM:608027	PCLO	27445	HP:0001263	Global developmental delay
OMIM:608027	PCLO	27445	HP:0003676	Progressive
OMIM:608027	PCLO	27445	HP:0004322	Short stature
OMIM:608027	PCLO	27445	HP:0000007	Autosomal recessive inheritance
OMIM:608027	PCLO	27445	HP:0001257	Spasticity
OMIM:608027	PCLO	27445	HP:0001347	Hyperreflexia
OMIM:608027	PCLO	27445	HP:0000343	Long philtrum
OMIM:608027	PCLO	27445	HP:0008936	Muscular hypotonia of the trunk
OMIM:608027	PCLO	27445	HP:0000369	Low-set ears
OMIM:608027	PCLO	27445	HP:0005280	Depressed nasal bridge
OMIM:608027	PCLO	27445	HP:0000365	Hearing impairment
OMIM:608027	PCLO	27445	HP:0001321	Cerebellar hypoplasia
OMIM:608027	PCLO	27445	HP:0000248	Brachycephaly
OMIM:608027	PCLO	27445	HP:0004325	Decreased body weight
OMIM:608027	PCLO	27445	HP:0001272	Cerebellar atrophy
OMIM:608027	PCLO	27445	HP:0003577	Congenital onset
OMIM:608027	PCLO	27445	HP:0012110	Hypoplasia of the pons
OMIM:614441	HPGD	3248	HP:0002829	Arthralgia
OMIM:614441	HPGD	3248	HP:0000007	Autosomal recessive inheritance
OMIM:614441	HPGD	3248	HP:0001217	Clubbing
OMIM:614441	SLCO2A1	6578	HP:0002829	Arthralgia
OMIM:614441	SLCO2A1	6578	HP:0000007	Autosomal recessive inheritance
OMIM:614441	SLCO2A1	6578	HP:0001217	Clubbing
ORPHANET:1173	PNPLA6	10908	HP:0002648	Abnormality of calvarial morphology
ORPHANET:1173	PNPLA6	10908	HP:0000144	Decreased fertility
ORPHANET:1173	PNPLA6	10908	HP:0002376	Developmental regression
ORPHANET:1173	PNPLA6	10908	HP:0000512	Abnormal electroretinogram
ORPHANET:1173	PNPLA6	10908	HP:0002558	Supernumerary nipple
ORPHANET:1173	PNPLA6	10908	HP:0000639	Nystagmus
ORPHANET:1173	PNPLA6	10908	HP:0000648	Optic atrophy
ORPHANET:1173	PNPLA6	10908	HP:0001252	Muscular hypotonia
ORPHANET:1173	PNPLA6	10908	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:1173	PNPLA6	10908	HP:0004322	Short stature
ORPHANET:1173	PNPLA6	10908	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:1173	PNPLA6	10908	HP:0000708	Behavioral abnormality
ORPHANET:1173	PNPLA6	10908	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1173	PNPLA6	10908	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1173	PNPLA6	10908	HP:0002167	Neurological speech impairment
ORPHANET:1173	PNPLA6	10908	HP:0002311	Incoordination
ORPHANET:1173	RNF216	54476	HP:0002648	Abnormality of calvarial morphology
ORPHANET:1173	RNF216	54476	HP:0000144	Decreased fertility
ORPHANET:1173	RNF216	54476	HP:0002376	Developmental regression
ORPHANET:1173	RNF216	54476	HP:0000512	Abnormal electroretinogram
ORPHANET:1173	RNF216	54476	HP:0002558	Supernumerary nipple
ORPHANET:1173	RNF216	54476	HP:0000639	Nystagmus
ORPHANET:1173	RNF216	54476	HP:0000648	Optic atrophy
ORPHANET:1173	RNF216	54476	HP:0001252	Muscular hypotonia
ORPHANET:1173	RNF216	54476	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:1173	RNF216	54476	HP:0004322	Short stature
ORPHANET:1173	RNF216	54476	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:1173	RNF216	54476	HP:0000708	Behavioral abnormality
ORPHANET:1173	RNF216	54476	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1173	RNF216	54476	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:1173	RNF216	54476	HP:0002167	Neurological speech impairment
ORPHANET:1173	RNF216	54476	HP:0002311	Incoordination
OMIM:311030	MCF2	4168	HP:0001417	X-linked inheritance
OMIM:311030	MCF2	4168	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:311030	MCF2	4168	HP:0002664	Neoplasm
OMIM:607654	DSG1	1828	HP:0000006	Autosomal dominant inheritance
OMIM:607654	DSG1	1828	HP:0000982	Palmoplantar keratoderma
OMIM:607654	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:607654	KRT1	3848	HP:0000982	Palmoplantar keratoderma
OMIM:607654	DSP	1832	HP:0000006	Autosomal dominant inheritance
OMIM:607654	DSP	1832	HP:0000982	Palmoplantar keratoderma
OMIM:227260	TWIST2	117581	HP:0000007	Autosomal recessive inheritance
OMIM:227260	TWIST2	117581	HP:0010767	Sacrococcygeal pilonidal abnormality
OMIM:227260	TWIST2	117581	HP:0002023	Anal atresia
OMIM:227260	TWIST2	117581	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:227260	TWIST2	117581	HP:0001053	Hypopigmented skin patches
OMIM:227260	TWIST2	117581	HP:0000632	Lacrimation abnormality
OMIM:227260	TWIST2	117581	HP:0000286	Epicanthus
OMIM:227260	TWIST2	117581	HP:0000499	Abnormality of the eyelashes
OMIM:227260	TWIST2	117581	HP:0000414	Bulbous nose
OMIM:227260	TWIST2	117581	HP:0000968	Ectodermal dysplasia
OMIM:227260	TWIST2	117581	HP:0000322	Short philtrum
OMIM:227260	TWIST2	117581	HP:0100589	Urogenital fistula
OMIM:227260	TWIST2	117581	HP:0007495	Prematurely aged appearance
OMIM:227260	TWIST2	117581	HP:0005280	Depressed nasal bridge
OMIM:227260	TWIST2	117581	HP:0000486	Strabismus
OMIM:227260	TWIST2	117581	HP:0005338	Sparse lateral eyebrow
OMIM:227260	TWIST2	117581	HP:0002714	Downturned corners of mouth
OMIM:227260	TWIST2	117581	HP:0000957	Cafe-au-lait spot
OMIM:227260	TWIST2	117581	HP:0011362	Abnormal hair quantity
OMIM:227260	TWIST2	117581	HP:0000457	Depressed nasal ridge
OMIM:227260	TWIST2	117581	HP:0010935	Abnormality of the upper urinary tract
OMIM:227260	TWIST2	117581	HP:0000629	Periorbital fullness
OMIM:227260	TWIST2	117581	HP:0002553	Highly arched eyebrow
OMIM:227260	TWIST2	117581	HP:0000494	Downslanted palpebral fissures
OMIM:616115	NLRC4	58484	HP:0002829	Arthralgia
OMIM:610543	CREBBP	1387	HP:0001522	Death in infancy
OMIM:610543	CREBBP	1387	HP:0001263	Global developmental delay
OMIM:610543	CREBBP	1387	HP:0004209	Clinodactyly of the 5th finger
OMIM:610543	CREBBP	1387	HP:0001513	Obesity
OMIM:610543	CREBBP	1387	HP:0002650	Scoliosis
OMIM:610543	CREBBP	1387	HP:0000494	Downslanted palpebral fissures
OMIM:610543	CREBBP	1387	HP:0002360	Sleep disturbance
OMIM:610543	CREBBP	1387	HP:0000077	Abnormality of the kidney
OMIM:610543	CREBBP	1387	HP:0000486	Strabismus
OMIM:610543	CREBBP	1387	HP:0004383	Hypoplastic left heart
OMIM:610543	CREBBP	1387	HP:0010055	Broad hallux
OMIM:610543	CREBBP	1387	HP:0001252	Muscular hypotonia
OMIM:610543	CREBBP	1387	HP:0000448	Prominent nose
OMIM:610543	CREBBP	1387	HP:0002219	Facial hypertrichosis
OMIM:610543	CREBBP	1387	HP:0000444	Convex nasal ridge
OMIM:610543	CREBBP	1387	HP:0001250	Seizures
OMIM:610543	CREBBP	1387	HP:0002719	Recurrent infections
OMIM:610543	CREBBP	1387	HP:0009553	Abnormality of the hairline
OMIM:610543	CREBBP	1387	HP:0001748	Polysplenia
OMIM:610543	CREBBP	1387	HP:0000347	Micrognathia
OMIM:610543	CREBBP	1387	HP:0000252	Microcephaly
OMIM:610543	CREBBP	1387	HP:0000218	High palate
OMIM:610543	CREBBP	1387	HP:0001999	Abnormal facial shape
OMIM:610543	CREBBP	1387	HP:0001249	Intellectual disability
OMIM:610543	CREBBP	1387	HP:0011304	Broad thumb
OMIM:610543	CREBBP	1387	HP:0008872	Feeding difficulties in infancy
OMIM:610543	CREBBP	1387	HP:0001508	Failure to thrive
OMIM:610543	CREBBP	1387	HP:0000545	Myopia
OMIM:610543	CREBBP	1387	HP:0001442	Somatic mosaicism
OMIM:122200	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:122200	TGFBI	7045	HP:0000529	Progressive visual loss
OMIM:122200	TGFBI	7045	HP:0001149	Lattice corneal dystrophy
OMIM:614870	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX19	5824	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX19	5824	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX19	5824	HP:0001302	Pachygyria
OMIM:614870	PEX19	5824	HP:0011344	Severe global developmental delay
OMIM:614870	PEX19	5824	HP:0001250	Seizures
OMIM:614870	PEX19	5824	HP:0002240	Hepatomegaly
OMIM:614870	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX16	9409	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX16	9409	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX16	9409	HP:0001302	Pachygyria
OMIM:614870	PEX16	9409	HP:0011344	Severe global developmental delay
OMIM:614870	PEX16	9409	HP:0001250	Seizures
OMIM:614870	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:614870	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX2	5828	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX2	5828	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX2	5828	HP:0001302	Pachygyria
OMIM:614870	PEX2	5828	HP:0011344	Severe global developmental delay
OMIM:614870	PEX2	5828	HP:0001250	Seizures
OMIM:614870	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:614870	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX1	5189	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX1	5189	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX1	5189	HP:0001302	Pachygyria
OMIM:614870	PEX1	5189	HP:0011344	Severe global developmental delay
OMIM:614870	PEX1	5189	HP:0001250	Seizures
OMIM:614870	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:614870	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX5	5830	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX5	5830	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX5	5830	HP:0001302	Pachygyria
OMIM:614870	PEX5	5830	HP:0011344	Severe global developmental delay
OMIM:614870	PEX5	5830	HP:0001250	Seizures
OMIM:614870	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:614870	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX6	5190	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX6	5190	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX6	5190	HP:0001302	Pachygyria
OMIM:614870	PEX6	5190	HP:0011344	Severe global developmental delay
OMIM:614870	PEX6	5190	HP:0001250	Seizures
OMIM:614870	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:614870	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX10	5192	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX10	5192	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX10	5192	HP:0001302	Pachygyria
OMIM:614870	PEX10	5192	HP:0011344	Severe global developmental delay
OMIM:614870	PEX10	5192	HP:0001250	Seizures
OMIM:614870	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:614870	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX12	5193	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX12	5193	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX12	5193	HP:0001302	Pachygyria
OMIM:614870	PEX12	5193	HP:0011344	Severe global developmental delay
OMIM:614870	PEX12	5193	HP:0001250	Seizures
OMIM:614870	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:614870	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX13	5194	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX13	5194	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX13	5194	HP:0001302	Pachygyria
OMIM:614870	PEX13	5194	HP:0011344	Severe global developmental delay
OMIM:614870	PEX13	5194	HP:0001250	Seizures
OMIM:614870	PEX13	5194	HP:0002240	Hepatomegaly
OMIM:614870	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX14	5195	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX14	5195	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX14	5195	HP:0001302	Pachygyria
OMIM:614870	PEX14	5195	HP:0011344	Severe global developmental delay
OMIM:614870	PEX14	5195	HP:0001250	Seizures
OMIM:614870	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:614870	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX26	55670	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX26	55670	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX26	55670	HP:0001302	Pachygyria
OMIM:614870	PEX26	55670	HP:0011344	Severe global developmental delay
OMIM:614870	PEX26	55670	HP:0001250	Seizures
OMIM:614870	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:614870	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX3	8504	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX3	8504	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX3	8504	HP:0001302	Pachygyria
OMIM:614870	PEX3	8504	HP:0011344	Severe global developmental delay
OMIM:614870	PEX3	8504	HP:0001250	Seizures
OMIM:614870	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:614870	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614870	PEX11B	8799	HP:0008872	Feeding difficulties in infancy
OMIM:614870	PEX11B	8799	HP:0010655	Epiphyseal stippling
OMIM:614870	PEX11B	8799	HP:0001302	Pachygyria
OMIM:614870	PEX11B	8799	HP:0011344	Severe global developmental delay
OMIM:614870	PEX11B	8799	HP:0001250	Seizures
OMIM:614870	PEX11B	8799	HP:0002240	Hepatomegaly
OMIM:254130	DYSF	8291	HP:0003560	Muscular dystrophy
OMIM:254130	DYSF	8291	HP:0007340	Lower limb muscle weakness
OMIM:254130	DYSF	8291	HP:0010546	Muscle fibrillation
OMIM:254130	DYSF	8291	HP:0002460	Distal muscle weakness
OMIM:254130	DYSF	8291	HP:0001425	Heterogeneous
OMIM:254130	DYSF	8291	HP:0000007	Autosomal recessive inheritance
OMIM:254130	DYSF	8291	HP:0003581	Adult onset
OMIM:254130	DYSF	8291	HP:0003693	Distal amyotrophy
OMIM:254130	DYSF	8291	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606353	ERLIN2	11160	HP:0003487	Babinski sign
OMIM:606353	ERLIN2	11160	HP:0001276	Hypertonia
OMIM:606353	ERLIN2	11160	HP:0002015	Dysphagia
OMIM:606353	ERLIN2	11160	HP:0000079	Abnormality of the urinary system
OMIM:606353	ERLIN2	11160	HP:0002501	Spasticity of pharyngeal muscles
OMIM:606353	ERLIN2	11160	HP:0008872	Feeding difficulties in infancy
OMIM:606353	ERLIN2	11160	HP:0002064	Spastic gait
OMIM:606353	ERLIN2	11160	HP:0001347	Hyperreflexia
OMIM:606353	ERLIN2	11160	HP:0002200	Pseudobulbar signs
OMIM:606353	ERLIN2	11160	HP:0001324	Muscle weakness
OMIM:606353	ERLIN2	11160	HP:0002193	Pseudobulbar behavioral symptoms
OMIM:606353	ERLIN2	11160	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606353	ERLIN2	11160	HP:0007256	Abnormal pyramidal signs
OMIM:606353	ERLIN2	11160	HP:0002120	Cerebral cortical atrophy
OMIM:606353	ERLIN2	11160	HP:0001285	Spastic tetraparesis
OMIM:606353	ERLIN2	11160	HP:0000183	Difficulty in tongue movements
OMIM:606353	ERLIN2	11160	HP:0003621	Juvenile onset
OMIM:606353	ERLIN2	11160	HP:0002491	Spasticity of facial muscles
OMIM:606353	ERLIN2	11160	HP:0011463	Childhood onset
OMIM:606353	ERLIN2	11160	HP:0002167	Neurological speech impairment
OMIM:606353	ERLIN2	11160	HP:0002311	Incoordination
OMIM:606353	ERLIN2	11160	HP:0002464	Spastic dysarthria
OMIM:606353	ERLIN2	11160	HP:0004374	Hemiplegia/hemiparesis
OMIM:606353	ERLIN2	11160	HP:0003202	Skeletal muscle atrophy
OMIM:606353	ERLIN2	11160	HP:0001288	Gait disturbance
OMIM:606353	ERLIN2	11160	HP:0003677	Slow progression
OMIM:606353	ERLIN2	11160	HP:0000007	Autosomal recessive inheritance
OMIM:606353	ALS2	57679	HP:0003487	Babinski sign
OMIM:606353	ALS2	57679	HP:0001276	Hypertonia
OMIM:606353	ALS2	57679	HP:0002015	Dysphagia
OMIM:606353	ALS2	57679	HP:0000079	Abnormality of the urinary system
OMIM:606353	ALS2	57679	HP:0002501	Spasticity of pharyngeal muscles
OMIM:606353	ALS2	57679	HP:0008872	Feeding difficulties in infancy
OMIM:606353	ALS2	57679	HP:0002064	Spastic gait
OMIM:606353	ALS2	57679	HP:0001347	Hyperreflexia
OMIM:606353	ALS2	57679	HP:0002200	Pseudobulbar signs
OMIM:606353	ALS2	57679	HP:0001324	Muscle weakness
OMIM:606353	ALS2	57679	HP:0002193	Pseudobulbar behavioral symptoms
OMIM:606353	ALS2	57679	HP:0002127	Abnormal upper motor neuron morphology
OMIM:606353	ALS2	57679	HP:0007256	Abnormal pyramidal signs
OMIM:606353	ALS2	57679	HP:0002120	Cerebral cortical atrophy
OMIM:606353	ALS2	57679	HP:0001285	Spastic tetraparesis
OMIM:606353	ALS2	57679	HP:0000183	Difficulty in tongue movements
OMIM:606353	ALS2	57679	HP:0003621	Juvenile onset
OMIM:606353	ALS2	57679	HP:0002491	Spasticity of facial muscles
OMIM:606353	ALS2	57679	HP:0011463	Childhood onset
OMIM:606353	ALS2	57679	HP:0002167	Neurological speech impairment
OMIM:606353	ALS2	57679	HP:0002311	Incoordination
OMIM:606353	ALS2	57679	HP:0002464	Spastic dysarthria
OMIM:606353	ALS2	57679	HP:0004374	Hemiplegia/hemiparesis
OMIM:606353	ALS2	57679	HP:0003202	Skeletal muscle atrophy
OMIM:606353	ALS2	57679	HP:0001288	Gait disturbance
OMIM:606353	ALS2	57679	HP:0003677	Slow progression
OMIM:606353	ALS2	57679	HP:0000007	Autosomal recessive inheritance
OMIM:612124	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:612124	CSRP3	8048	HP:0001638	Cardiomyopathy
OMIM:612124	CSRP3	8048	HP:0004756	Ventricular tachycardia
OMIM:612124	CSRP3	8048	HP:0004757	Paroxysmal atrial fibrillation
OMIM:612124	CSRP3	8048	HP:0001645	Sudden cardiac death
OMIM:615888	RASGRP2	10235	HP:0000421	Epistaxis
OMIM:615888	RASGRP2	10235	HP:0003010	Prolonged bleeding time
OMIM:165300	OPA3	80207	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:165300	OPA3	80207	HP:0007663	Reduced visual acuity
OMIM:165300	OPA3	80207	HP:0000505	Visual impairment
OMIM:165300	OPA3	80207	HP:0001337	Tremor
OMIM:165300	OPA3	80207	HP:0000518	Cataract
OMIM:165300	OPA3	80207	HP:0000006	Autosomal dominant inheritance
OMIM:165300	OPA3	80207	HP:0000648	Optic atrophy
OMIM:304150	ATP7A	538	HP:0000377	Abnormality of the pinna
OMIM:304150	ATP7A	538	HP:0001382	Joint hypermobility
OMIM:304150	ATP7A	538	HP:0000218	High palate
OMIM:304150	ATP7A	538	HP:0000275	Narrow face
OMIM:304150	ATP7A	538	HP:0002857	Genu valgum
OMIM:304150	ATP7A	538	HP:0000348	High forehead
OMIM:304150	ATP7A	538	HP:0000015	Bladder diverticulum
OMIM:304150	ATP7A	538	HP:0000939	Osteoporosis
OMIM:304150	ATP7A	538	HP:0003043	Abnormality of the shoulder
OMIM:304150	ATP7A	538	HP:0005792	Short humerus
OMIM:304150	ATP7A	538	HP:0000010	Recurrent urinary tract infections
OMIM:304150	ATP7A	538	HP:0000987	Atypical scarring of skin
OMIM:304150	ATP7A	538	HP:0000494	Downslanted palpebral fissures
OMIM:304150	ATP7A	538	HP:0100543	Cognitive impairment
OMIM:304150	ATP7A	538	HP:0000978	Bruising susceptibility
OMIM:304150	ATP7A	538	HP:0000768	Pectus carinatum
OMIM:304150	ATP7A	538	HP:0008872	Feeding difficulties in infancy
OMIM:304150	ATP7A	538	HP:0000366	Abnormality of the nose
OMIM:304150	ATP7A	538	HP:0000126	Hydronephrosis
OMIM:304150	ATP7A	538	HP:0100240	Synostosis of joints
OMIM:304150	ATP7A	538	HP:0001392	Abnormality of the liver
OMIM:304150	ATP7A	538	HP:0003063	Abnormality of the humerus
OMIM:304150	ATP7A	538	HP:0000774	Narrow chest
OMIM:304150	ATP7A	538	HP:0100777	Exostoses
OMIM:304150	ATP7A	538	HP:0000926	Platyspondyly
OMIM:304150	ATP7A	538	HP:0005293	Venous insufficiency
OMIM:304150	ATP7A	538	HP:0000276	Long face
OMIM:304150	ATP7A	538	HP:0002673	Coxa valga
OMIM:304150	ATP7A	538	HP:0000916	Broad clavicles
OMIM:304150	ATP7A	538	HP:0003272	Abnormality of the hip bone
OMIM:304150	ATP7A	538	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:304150	ATP7A	538	HP:0000974	Hyperextensible skin
OMIM:304150	ATP7A	538	HP:0001156	Brachydactyly syndrome
OMIM:304150	ATP7A	538	HP:0002808	Kyphosis
OMIM:304150	ATP7A	538	HP:0003042	Elbow dislocation
OMIM:304150	ATP7A	538	HP:0002208	Coarse hair
OMIM:304150	ATP7A	538	HP:0000343	Long philtrum
OMIM:304150	ATP7A	538	HP:0002514	Cerebral calcification
OMIM:304150	ATP7A	538	HP:0001763	Pes planus
OMIM:304150	ATP7A	538	HP:0000767	Pectus excavatum
OMIM:304150	ATP7A	538	HP:0000174	Abnormality of the palate
OMIM:304150	ATP7A	538	HP:0002617	Aneurysm
OMIM:304150	ATP7A	538	HP:0001419	X-linked recessive inheritance
OMIM:304150	ATP7A	538	HP:0002650	Scoliosis
OMIM:304150	ATP7A	538	HP:0000444	Convex nasal ridge
OMIM:304150	ATP7A	538	HP:0000894	Short clavicles
OMIM:304150	ATP7A	538	HP:0001252	Muscular hypotonia
OMIM:304150	ATP7A	538	HP:0002992	Abnormality of the tibia
OMIM:304150	ATP7A	538	HP:0002797	Osteolysis
OMIM:304150	ATP7A	538	HP:0000977	Soft skin
OMIM:304150	ATP7A	538	HP:0004349	Reduced bone mineral density
OMIM:304150	ATP7A	538	HP:0002028	Chronic diarrhea
OMIM:304150	ATP7A	538	HP:0001582	Redundant skin
OMIM:304150	ATP7A	538	HP:0001388	Joint laxity
OMIM:304150	ATP7A	538	HP:0003019	Abnormality of the wrist
OMIM:304150	ATP7A	538	HP:0004299	Hernia of the abdominal wall
OMIM:304150	ATP7A	538	HP:0002991	Abnormality of the fibula
OMIM:604841	COL11A1	1301	HP:0000006	Autosomal dominant inheritance
OMIM:604841	COL11A1	1301	HP:0000463	Anteverted nares
OMIM:604841	COL11A1	1301	HP:0100807	Long fingers
OMIM:604841	COL11A1	1301	HP:0000545	Myopia
OMIM:604841	COL11A1	1301	HP:0000541	Retinal detachment
OMIM:604841	COL11A1	1301	HP:0007759	Opacification of the corneal stroma
OMIM:604841	COL11A1	1301	HP:0004327	Abnormality of the vitreous humor
OMIM:604841	COL11A1	1301	HP:0000501	Glaucoma
OMIM:604841	COL11A1	1301	HP:0000175	Cleft palate
OMIM:604841	COL11A1	1301	HP:0001166	Arachnodactyly
OMIM:604841	COL11A1	1301	HP:0001382	Joint hypermobility
OMIM:604841	COL11A1	1301	HP:0000347	Micrognathia
OMIM:604841	COL11A1	1301	HP:0000518	Cataract
OMIM:604841	COL11A1	1301	HP:0000193	Bifid uvula
OMIM:604841	COL11A1	1301	HP:0040199	Flat midface
OMIM:604841	COL11A1	1301	HP:0000407	Sensorineural hearing impairment
OMIM:604841	COL11A1	1301	HP:0000272	Malar flattening
OMIM:604841	COL11A1	1301	HP:0000201	Pierre-Robin sequence
OMIM:604841	COL11A1	1301	HP:0005280	Depressed nasal bridge
OMIM:604841	COL11A1	1301	HP:0000488	Retinopathy
OMIM:217085	WDPCP	51057	HP:0000028	Cryptorchidism
OMIM:217085	WDPCP	51057	HP:0100835	Benign neoplasm of the central nervous system
OMIM:217085	WDPCP	51057	HP:0001674	Complete atrioventricular canal defect
OMIM:217085	WDPCP	51057	HP:0001682	Subaortic stenosis
OMIM:217085	WDPCP	51057	HP:0001643	Patent ductus arteriosus
OMIM:217085	WDPCP	51057	HP:0001679	Abnormality of the aorta
OMIM:217085	WDPCP	51057	HP:0010055	Broad hallux
OMIM:217085	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
OMIM:217085	WDPCP	51057	HP:0000316	Hypertelorism
OMIM:217085	WDPCP	51057	HP:0001680	Coarctation of aorta
OMIM:615512	TPI1	7167	HP:0001252	Muscular hypotonia
OMIM:615512	TPI1	7167	HP:0001263	Global developmental delay
OMIM:615512	TPI1	7167	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615512	TPI1	7167	HP:0000762	Decreased nerve conduction velocity
OMIM:615512	TPI1	7167	HP:0001081	Cholelithiasis
OMIM:615512	TPI1	7167	HP:0001332	Dystonia
OMIM:615512	TPI1	7167	HP:0010978	Abnormality of immune system physiology
OMIM:615512	TPI1	7167	HP:0000776	Congenital diaphragmatic hernia
OMIM:615512	TPI1	7167	HP:0001635	Congestive heart failure
OMIM:615512	TPI1	7167	HP:0003202	Skeletal muscle atrophy
OMIM:615512	TPI1	7167	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:615512	TPI1	7167	HP:0001265	Hyporeflexia
OMIM:615512	TPI1	7167	HP:0001337	Tremor
OMIM:615512	TPI1	7167	HP:0001878	Hemolytic anemia
OMIM:615512	TPI1	7167	HP:0001082	Cholecystitis
OMIM:615512	TPI1	7167	HP:0001257	Spasticity
OMIM:615512	TPI1	7167	HP:0002808	Kyphosis
OMIM:615512	TPI1	7167	HP:0000543	Optic disc pallor
OMIM:615512	TPI1	7167	HP:0003198	Myopathy
OMIM:615512	TPI1	7167	HP:0001744	Splenomegaly
OMIM:615512	TPI1	7167	HP:0009830	Peripheral neuropathy
OMIM:615512	TPI1	7167	HP:0000952	Jaundice
OMIM:615512	TPI1	7167	HP:0002317	Unsteady gait
ORPHANET:243	NR5A1	2516	HP:0000252	Microcephaly
ORPHANET:243	NR5A1	2516	HP:0002206	Pulmonary fibrosis
ORPHANET:243	NR5A1	2516	HP:0004322	Short stature
ORPHANET:243	NR5A1	2516	HP:0000786	Primary amenorrhea
ORPHANET:243	NR5A1	2516	HP:0000147	Polycystic ovaries
ORPHANET:243	NR5A1	2516	HP:0001166	Arachnodactyly
ORPHANET:243	NR5A1	2516	HP:0000144	Decreased fertility
ORPHANET:243	NR5A1	2516	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:243	NR5A1	2516	HP:0000869	Secondary amenorrhea
ORPHANET:243	NR5A1	2516	HP:0004349	Reduced bone mineral density
ORPHANET:243	NR5A1	2516	HP:0000365	Hearing impairment
ORPHANET:243	NR5A1	2516	HP:0002311	Incoordination
ORPHANET:243	PSMC3IP	29893	HP:0000252	Microcephaly
ORPHANET:243	PSMC3IP	29893	HP:0002206	Pulmonary fibrosis
ORPHANET:243	PSMC3IP	29893	HP:0004322	Short stature
ORPHANET:243	PSMC3IP	29893	HP:0000786	Primary amenorrhea
ORPHANET:243	PSMC3IP	29893	HP:0000147	Polycystic ovaries
ORPHANET:243	PSMC3IP	29893	HP:0001166	Arachnodactyly
ORPHANET:243	PSMC3IP	29893	HP:0000144	Decreased fertility
ORPHANET:243	PSMC3IP	29893	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:243	PSMC3IP	29893	HP:0000869	Secondary amenorrhea
ORPHANET:243	PSMC3IP	29893	HP:0004349	Reduced bone mineral density
ORPHANET:243	PSMC3IP	29893	HP:0000365	Hearing impairment
ORPHANET:243	PSMC3IP	29893	HP:0002311	Incoordination
ORPHANET:243	BMP15	9210	HP:0000252	Microcephaly
ORPHANET:243	BMP15	9210	HP:0002206	Pulmonary fibrosis
ORPHANET:243	BMP15	9210	HP:0004322	Short stature
ORPHANET:243	BMP15	9210	HP:0000786	Primary amenorrhea
ORPHANET:243	BMP15	9210	HP:0000147	Polycystic ovaries
ORPHANET:243	BMP15	9210	HP:0001166	Arachnodactyly
ORPHANET:243	BMP15	9210	HP:0000144	Decreased fertility
ORPHANET:243	BMP15	9210	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:243	BMP15	9210	HP:0000869	Secondary amenorrhea
ORPHANET:243	BMP15	9210	HP:0004349	Reduced bone mineral density
ORPHANET:243	BMP15	9210	HP:0000365	Hearing impairment
ORPHANET:243	BMP15	9210	HP:0002311	Incoordination
ORPHANET:243	FSHR	2492	HP:0000252	Microcephaly
ORPHANET:243	FSHR	2492	HP:0002206	Pulmonary fibrosis
ORPHANET:243	FSHR	2492	HP:0004322	Short stature
ORPHANET:243	FSHR	2492	HP:0000786	Primary amenorrhea
ORPHANET:243	FSHR	2492	HP:0000147	Polycystic ovaries
ORPHANET:243	FSHR	2492	HP:0001166	Arachnodactyly
ORPHANET:243	FSHR	2492	HP:0000144	Decreased fertility
ORPHANET:243	FSHR	2492	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:243	FSHR	2492	HP:0000869	Secondary amenorrhea
ORPHANET:243	FSHR	2492	HP:0004349	Reduced bone mineral density
ORPHANET:243	FSHR	2492	HP:0000365	Hearing impairment
ORPHANET:243	FSHR	2492	HP:0002311	Incoordination
OMIM:300115	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300115	ZNF711	7552	HP:0001256	Intellectual disability, mild
OMIM:300115	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300115	IL1RAPL1	11141	HP:0001256	Intellectual disability, mild
OMIM:300115	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300115	ACSL4	2182	HP:0001256	Intellectual disability, mild
OMIM:300115	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300115	PAK3	5063	HP:0001256	Intellectual disability, mild
OMIM:300115	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300115	SYP	6855	HP:0001256	Intellectual disability, mild
OMIM:300115	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300115	FTSJ1	24140	HP:0001256	Intellectual disability, mild
OMIM:300115	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300115	DLG3	1741	HP:0001256	Intellectual disability, mild
OMIM:300115	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300115	PTCHD1	139411	HP:0001256	Intellectual disability, mild
OMIM:300115	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300115	UPF3B	65109	HP:0001256	Intellectual disability, mild
OMIM:300115	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300115	ZNF81	347344	HP:0001256	Intellectual disability, mild
OMIM:300115	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300115	RAB39B	116442	HP:0001256	Intellectual disability, mild
OMIM:300115	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300115	DMD	1756	HP:0001256	Intellectual disability, mild
OMIM:300115	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300115	MAGT1	84061	HP:0001256	Intellectual disability, mild
OMIM:300115	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300115	MID2	11043	HP:0001256	Intellectual disability, mild
OMIM:300115	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300115	GDI1	2664	HP:0001256	Intellectual disability, mild
OMIM:300115	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300115	ZNF41	7592	HP:0001256	Intellectual disability, mild
OMIM:300115	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300115	MECP2	4204	HP:0001256	Intellectual disability, mild
OMIM:300115	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300115	HCFC1	3054	HP:0001256	Intellectual disability, mild
OMIM:300115	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300115	USP9X	8239	HP:0001256	Intellectual disability, mild
OMIM:300115	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300115	MED12	9968	HP:0001256	Intellectual disability, mild
OMIM:300115	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300115	ZNF674	641339	HP:0001256	Intellectual disability, mild
OMIM:300115	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300115	ARHGEF6	9459	HP:0001256	Intellectual disability, mild
OMIM:300115	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300115	RPS6KA3	6197	HP:0001256	Intellectual disability, mild
OMIM:300115	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300115	IQSEC2	23096	HP:0001256	Intellectual disability, mild
OMIM:300115	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300115	AGTR2	186	HP:0001256	Intellectual disability, mild
OMIM:300115	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300115	ARX	170302	HP:0001256	Intellectual disability, mild
OMIM:300115	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300115	ALG13	79868	HP:0001256	Intellectual disability, mild
OMIM:300115	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:300115	TSPAN7	7102	HP:0001256	Intellectual disability, mild
OMIM:616022	JAGN1	84522	HP:0001508	Failure to thrive
OMIM:616022	JAGN1	84522	HP:0002205	Recurrent respiratory infections
OMIM:616022	JAGN1	84522	HP:0004322	Short stature
OMIM:616022	JAGN1	84522	HP:0001875	Neutropenia
OMIM:616022	JAGN1	84522	HP:0000403	Recurrent otitis media
OMIM:616022	JAGN1	84522	HP:0002718	Recurrent bacterial infections
OMIM:603902	HBB	3043	HP:0001392	Abnormality of the liver
OMIM:603902	HBB	3043	HP:0001744	Splenomegaly
OMIM:603902	HBB	3043	HP:0000980	Pallor
OMIM:207900	ASL	435	HP:0000737	Irritability
OMIM:207900	ASL	435	HP:0002038	Protein avoidance
OMIM:207900	ASL	435	HP:0011362	Abnormal hair quantity
OMIM:207900	ASL	435	HP:0001251	Ataxia
OMIM:207900	ASL	435	HP:0009886	Trichorrhexis nodosa
OMIM:207900	ASL	435	HP:0001259	Coma
OMIM:207900	ASL	435	HP:0002353	EEG abnormality
OMIM:207900	ASL	435	HP:0002240	Hepatomegaly
OMIM:207900	ASL	435	HP:0003218	Oroticaciduria
OMIM:207900	ASL	435	HP:0001950	Respiratory alkalosis
OMIM:207900	ASL	435	HP:0002013	Vomiting
OMIM:207900	ASL	435	HP:0000007	Autosomal recessive inheritance
OMIM:207900	ASL	435	HP:0003355	Aminoaciduria
OMIM:207900	ASL	435	HP:0001249	Intellectual disability
OMIM:207900	ASL	435	HP:0001250	Seizures
OMIM:207900	ASL	435	HP:0001987	Hyperammonemia
OMIM:207900	ASL	435	HP:0002181	Cerebral edema
OMIM:207900	ASL	435	HP:0008872	Feeding difficulties in infancy
OMIM:207900	ASL	435	HP:0003217	Hyperglutaminemia
OMIM:207900	ASL	435	HP:0004322	Short stature
OMIM:207900	ASL	435	HP:0003623	Neonatal onset
OMIM:207900	ASL	435	HP:0001395	Hepatic fibrosis
OMIM:207900	ASL	435	HP:0001254	Lethargy
OMIM:207900	ASL	435	HP:0002311	Incoordination
OMIM:207900	ASL	435	HP:0001263	Global developmental delay
OMIM:207900	ASL	435	HP:0100543	Cognitive impairment
OMIM:207900	ASL	435	HP:0001508	Failure to thrive
OMIM:207900	ASL	435	HP:0001951	Episodic ammonia intoxication
OMIM:207900	ASL	435	HP:0005961	Hypoargininemia
OMIM:255700	CLCN1	1180	HP:0001324	Muscle weakness
OMIM:255700	CLCN1	1180	HP:0003812	Phenotypic variability
OMIM:255700	CLCN1	1180	HP:0011463	Childhood onset
OMIM:255700	CLCN1	1180	HP:0003326	Myalgia
OMIM:255700	CLCN1	1180	HP:0003712	Skeletal muscle hypertrophy
OMIM:255700	CLCN1	1180	HP:0002015	Dysphagia
OMIM:255700	CLCN1	1180	HP:0008968	Muscle hypertrophy of the lower extremities
OMIM:255700	CLCN1	1180	HP:0000007	Autosomal recessive inheritance
OMIM:607155	FKRP	79147	HP:0003547	Shoulder girdle muscle weakness
OMIM:607155	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607155	FKRP	79147	HP:0002808	Kyphosis
OMIM:607155	FKRP	79147	HP:0003701	Proximal muscle weakness
OMIM:607155	FKRP	79147	HP:0008981	Calf muscle hypertrophy
OMIM:607155	FKRP	79147	HP:0002355	Difficulty walking
OMIM:607155	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:607155	FKRP	79147	HP:0003326	Myalgia
OMIM:607155	FKRP	79147	HP:0003394	Muscle cramps
OMIM:607155	FKRP	79147	HP:0002650	Scoliosis
OMIM:607155	FKRP	79147	HP:0003828	Variable expressivity
OMIM:607155	FKRP	79147	HP:0002515	Waddling gait
OMIM:607155	FKRP	79147	HP:0008305	Exercise-induced myoglobinuria
OMIM:607155	FKRP	79147	HP:0002359	Frequent falls
OMIM:607155	FKRP	79147	HP:0002948	Vertebral fusion
OMIM:607155	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:607155	FKRP	79147	HP:0000158	Macroglossia
OMIM:607155	FKRP	79147	HP:0001644	Dilated cardiomyopathy
OMIM:607155	FKRP	79147	HP:0003307	Hyperlordosis
OMIM:607155	FKRP	79147	HP:0003749	Pelvic girdle muscle weakness
OMIM:607155	FKRP	79147	HP:0001771	Achilles tendon contracture
OMIM:614963	LEPR	3953	HP:0000815	Hypergonadotropic hypogonadism
OMIM:614963	LEPR	3953	HP:0000824	Growth hormone deficiency
OMIM:614963	LEPR	3953	HP:0001513	Obesity
OMIM:614963	LEPR	3953	HP:0000718	Aggressive behavior
OMIM:616398	KCTD17	79734	HP:0000473	Torticollis
OMIM:616398	KCTD17	79734	HP:0001260	Dysarthria
OMIM:616398	KCTD17	79734	HP:0000643	Blepharospasm
OMIM:616398	KCTD17	79734	HP:0000739	Anxiety
OMIM:616398	KCTD17	79734	HP:0001336	Myoclonus
OMIM:609242	NAGA	4668	HP:0000007	Autosomal recessive inheritance
OMIM:609242	NAGA	4668	HP:0002936	Distal sensory impairment
OMIM:609242	NAGA	4668	HP:0003581	Adult onset
OMIM:609242	NAGA	4668	HP:0100585	Telangiectasia of the skin
OMIM:609242	NAGA	4668	HP:0100543	Cognitive impairment
OMIM:609242	NAGA	4668	HP:0002460	Distal muscle weakness
OMIM:609242	NAGA	4668	HP:0001640	Cardiomegaly
OMIM:609242	NAGA	4668	HP:0000179	Thick lower lip vermilion
OMIM:609242	NAGA	4668	HP:0005280	Depressed nasal bridge
OMIM:609242	NAGA	4668	HP:0000962	Hyperkeratosis
OMIM:609242	NAGA	4668	HP:0000280	Coarse facial features
OMIM:609242	NAGA	4668	HP:0000958	Dry skin
OMIM:609242	NAGA	4668	HP:0002321	Vertigo
OMIM:609242	NAGA	4668	HP:0000360	Tinnitus
OMIM:609242	NAGA	4668	HP:0001004	Lymphedema
OMIM:609242	NAGA	4668	HP:0007759	Opacification of the corneal stroma
OMIM:609242	NAGA	4668	HP:0000365	Hearing impairment
OMIM:609242	NAGA	4668	HP:0000407	Sensorineural hearing impairment
OMIM:609242	NAGA	4668	HP:0001256	Intellectual disability, mild
OMIM:609242	NAGA	4668	HP:0000478	Abnormality of the eye
OMIM:609242	NAGA	4668	HP:0003355	Aminoaciduria
OMIM:609242	NAGA	4668	HP:0003477	Peripheral axonal neuropathy
OMIM:609242	NAGA	4668	HP:0002059	Cerebral atrophy
OMIM:600145	FUZ	80199	HP:0003312	Abnormal form of the vertebral bodies
OMIM:600145	FUZ	80199	HP:0000083	Renal insufficiency
OMIM:600145	FUZ	80199	HP:0000772	Abnormality of the ribs
OMIM:600145	FUZ	80199	HP:0002575	Tracheoesophageal fistula
OMIM:600145	FUZ	80199	HP:0002650	Scoliosis
OMIM:600145	FUZ	80199	HP:0005224	Rectal abscess
OMIM:600145	FUZ	80199	HP:0001376	Limitation of joint mobility
OMIM:600145	FUZ	80199	HP:0000006	Autosomal dominant inheritance
OMIM:600145	FUZ	80199	HP:0000822	Hypertension
OMIM:600145	FUZ	80199	HP:0002019	Constipation
OMIM:600145	FUZ	80199	HP:0008678	Renal hypoplasia/aplasia
OMIM:600145	FUZ	80199	HP:0009800	Maternal diabetes
OMIM:600145	FUZ	80199	HP:0003202	Skeletal muscle atrophy
OMIM:600145	FUZ	80199	HP:0001287	Meningitis
OMIM:600145	FUZ	80199	HP:0100542	Abnormal localization of kidney
OMIM:600145	FUZ	80199	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:600145	FUZ	80199	HP:0002308	Arnold-Chiari malformation
OMIM:600145	FUZ	80199	HP:0002607	Bowel incontinence
OMIM:600145	FUZ	80199	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:600145	FUZ	80199	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:600145	FUZ	80199	HP:0001883	Talipes
OMIM:600145	FUZ	80199	HP:0001669	Transposition of the great arteries
OMIM:600145	FUZ	80199	HP:0001562	Oligohydramnios
OMIM:600145	FUZ	80199	HP:0000076	Vesicoureteral reflux
OMIM:600145	FUZ	80199	HP:0002414	Spina bifida
OMIM:600145	FUZ	80199	HP:0001360	Holoprosencephaly
OMIM:600145	FUZ	80199	HP:0000202	Oral cleft
OMIM:600145	FUZ	80199	HP:0100589	Urogenital fistula
OMIM:600145	FUZ	80199	HP:0000062	Ambiguous genitalia
OMIM:600145	FUZ	80199	HP:0000028	Cryptorchidism
OMIM:600145	FUZ	80199	HP:0010497	Sirenomelia
OMIM:600145	FUZ	80199	HP:0003422	Vertebral segmentation defect
OMIM:600145	FUZ	80199	HP:0000008	Abnormality of female internal genitalia
OMIM:600145	FUZ	80199	HP:0001315	Reduced tendon reflexes
OMIM:600145	FUZ	80199	HP:0002315	Headache
OMIM:600145	VANGL1	81839	HP:0003312	Abnormal form of the vertebral bodies
OMIM:600145	VANGL1	81839	HP:0000083	Renal insufficiency
OMIM:600145	VANGL1	81839	HP:0000772	Abnormality of the ribs
OMIM:600145	VANGL1	81839	HP:0002575	Tracheoesophageal fistula
OMIM:600145	VANGL1	81839	HP:0002650	Scoliosis
OMIM:600145	VANGL1	81839	HP:0005224	Rectal abscess
OMIM:600145	VANGL1	81839	HP:0001376	Limitation of joint mobility
OMIM:600145	VANGL1	81839	HP:0000006	Autosomal dominant inheritance
OMIM:600145	VANGL1	81839	HP:0000822	Hypertension
OMIM:600145	VANGL1	81839	HP:0002019	Constipation
OMIM:600145	VANGL1	81839	HP:0008678	Renal hypoplasia/aplasia
OMIM:600145	VANGL1	81839	HP:0009800	Maternal diabetes
OMIM:600145	VANGL1	81839	HP:0003202	Skeletal muscle atrophy
OMIM:600145	VANGL1	81839	HP:0001287	Meningitis
OMIM:600145	VANGL1	81839	HP:0100542	Abnormal localization of kidney
OMIM:600145	VANGL1	81839	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:600145	VANGL1	81839	HP:0002308	Arnold-Chiari malformation
OMIM:600145	VANGL1	81839	HP:0002607	Bowel incontinence
OMIM:600145	VANGL1	81839	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:600145	VANGL1	81839	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:600145	VANGL1	81839	HP:0001883	Talipes
OMIM:600145	VANGL1	81839	HP:0001669	Transposition of the great arteries
OMIM:600145	VANGL1	81839	HP:0001562	Oligohydramnios
OMIM:600145	VANGL1	81839	HP:0000076	Vesicoureteral reflux
OMIM:600145	VANGL1	81839	HP:0002414	Spina bifida
OMIM:600145	VANGL1	81839	HP:0001360	Holoprosencephaly
OMIM:600145	VANGL1	81839	HP:0000202	Oral cleft
OMIM:600145	VANGL1	81839	HP:0100589	Urogenital fistula
OMIM:600145	VANGL1	81839	HP:0000062	Ambiguous genitalia
OMIM:600145	VANGL1	81839	HP:0000028	Cryptorchidism
OMIM:600145	VANGL1	81839	HP:0010497	Sirenomelia
OMIM:600145	VANGL1	81839	HP:0003422	Vertebral segmentation defect
OMIM:600145	VANGL1	81839	HP:0000008	Abnormality of female internal genitalia
OMIM:600145	VANGL1	81839	HP:0001315	Reduced tendon reflexes
OMIM:600145	VANGL1	81839	HP:0002315	Headache
OMIM:233400	CLPP	8192	HP:0000939	Osteoporosis
OMIM:233400	CLPP	8192	HP:0001762	Talipes equinovarus
OMIM:233400	CLPP	8192	HP:0007141	Sensorimotor neuropathy
OMIM:233400	CLPP	8192	HP:0100543	Cognitive impairment
OMIM:233400	CLPP	8192	HP:0001260	Dysarthria
OMIM:233400	CLPP	8192	HP:0000133	Gonadal dysgenesis
OMIM:233400	CLPP	8192	HP:0000218	High palate
OMIM:233400	CLPP	8192	HP:0002066	Gait ataxia
OMIM:233400	CLPP	8192	HP:0001272	Cerebellar atrophy
OMIM:233400	CLPP	8192	HP:0000407	Sensorineural hearing impairment
OMIM:233400	CLPP	8192	HP:0007941	Limited extraocular movements
OMIM:233400	CLPP	8192	HP:0001284	Areflexia
OMIM:233400	CLPP	8192	HP:0002650	Scoliosis
OMIM:233400	CLPP	8192	HP:0001761	Pes cavus
OMIM:233400	CLPP	8192	HP:0004322	Short stature
OMIM:233400	CLPP	8192	HP:0000639	Nystagmus
OMIM:233400	CLPP	8192	HP:0003812	Phenotypic variability
OMIM:233400	CLPP	8192	HP:0000786	Primary amenorrhea
OMIM:233400	CLPP	8192	HP:0001270	Motor delay
OMIM:233400	CLPP	8192	HP:0000007	Autosomal recessive inheritance
OMIM:233400	CLPP	8192	HP:0001265	Hyporeflexia
OMIM:233400	LARS2	23395	HP:0000939	Osteoporosis
OMIM:233400	LARS2	23395	HP:0001762	Talipes equinovarus
OMIM:233400	LARS2	23395	HP:0007141	Sensorimotor neuropathy
OMIM:233400	LARS2	23395	HP:0100543	Cognitive impairment
OMIM:233400	LARS2	23395	HP:0001260	Dysarthria
OMIM:233400	LARS2	23395	HP:0000133	Gonadal dysgenesis
OMIM:233400	LARS2	23395	HP:0000218	High palate
OMIM:233400	LARS2	23395	HP:0002066	Gait ataxia
OMIM:233400	LARS2	23395	HP:0001272	Cerebellar atrophy
OMIM:233400	LARS2	23395	HP:0000407	Sensorineural hearing impairment
OMIM:233400	LARS2	23395	HP:0007941	Limited extraocular movements
OMIM:233400	LARS2	23395	HP:0001284	Areflexia
OMIM:233400	LARS2	23395	HP:0002650	Scoliosis
OMIM:233400	LARS2	23395	HP:0001761	Pes cavus
OMIM:233400	LARS2	23395	HP:0004322	Short stature
OMIM:233400	LARS2	23395	HP:0000639	Nystagmus
OMIM:233400	LARS2	23395	HP:0003812	Phenotypic variability
OMIM:233400	LARS2	23395	HP:0000786	Primary amenorrhea
OMIM:233400	LARS2	23395	HP:0001270	Motor delay
OMIM:233400	LARS2	23395	HP:0000007	Autosomal recessive inheritance
OMIM:233400	LARS2	23395	HP:0001265	Hyporeflexia
OMIM:233400	C10ORF2	56652	HP:0000939	Osteoporosis
OMIM:233400	C10ORF2	56652	HP:0001762	Talipes equinovarus
OMIM:233400	C10ORF2	56652	HP:0007141	Sensorimotor neuropathy
OMIM:233400	C10ORF2	56652	HP:0100543	Cognitive impairment
OMIM:233400	C10ORF2	56652	HP:0001260	Dysarthria
OMIM:233400	C10ORF2	56652	HP:0000133	Gonadal dysgenesis
OMIM:233400	C10ORF2	56652	HP:0000218	High palate
OMIM:233400	C10ORF2	56652	HP:0002066	Gait ataxia
OMIM:233400	C10ORF2	56652	HP:0001272	Cerebellar atrophy
OMIM:233400	C10ORF2	56652	HP:0000407	Sensorineural hearing impairment
OMIM:233400	C10ORF2	56652	HP:0007941	Limited extraocular movements
OMIM:233400	C10ORF2	56652	HP:0001284	Areflexia
OMIM:233400	C10ORF2	56652	HP:0002650	Scoliosis
OMIM:233400	C10ORF2	56652	HP:0001761	Pes cavus
OMIM:233400	C10ORF2	56652	HP:0004322	Short stature
OMIM:233400	C10ORF2	56652	HP:0000639	Nystagmus
OMIM:233400	C10ORF2	56652	HP:0003812	Phenotypic variability
OMIM:233400	C10ORF2	56652	HP:0000786	Primary amenorrhea
OMIM:233400	C10ORF2	56652	HP:0001270	Motor delay
OMIM:233400	C10ORF2	56652	HP:0000007	Autosomal recessive inheritance
OMIM:233400	C10ORF2	56652	HP:0001265	Hyporeflexia
OMIM:233400	HARS2	23438	HP:0000939	Osteoporosis
OMIM:233400	HARS2	23438	HP:0001762	Talipes equinovarus
OMIM:233400	HARS2	23438	HP:0007141	Sensorimotor neuropathy
OMIM:233400	HARS2	23438	HP:0100543	Cognitive impairment
OMIM:233400	HARS2	23438	HP:0001260	Dysarthria
OMIM:233400	HARS2	23438	HP:0000133	Gonadal dysgenesis
OMIM:233400	HARS2	23438	HP:0000218	High palate
OMIM:233400	HARS2	23438	HP:0002066	Gait ataxia
OMIM:233400	HARS2	23438	HP:0001272	Cerebellar atrophy
OMIM:233400	HARS2	23438	HP:0000407	Sensorineural hearing impairment
OMIM:233400	HARS2	23438	HP:0007941	Limited extraocular movements
OMIM:233400	HARS2	23438	HP:0001284	Areflexia
OMIM:233400	HARS2	23438	HP:0002650	Scoliosis
OMIM:233400	HARS2	23438	HP:0001761	Pes cavus
OMIM:233400	HARS2	23438	HP:0004322	Short stature
OMIM:233400	HARS2	23438	HP:0000639	Nystagmus
OMIM:233400	HARS2	23438	HP:0003812	Phenotypic variability
OMIM:233400	HARS2	23438	HP:0000786	Primary amenorrhea
OMIM:233400	HARS2	23438	HP:0001270	Motor delay
OMIM:233400	HARS2	23438	HP:0000007	Autosomal recessive inheritance
OMIM:233400	HARS2	23438	HP:0001265	Hyporeflexia
OMIM:233400	HSD17B4	3295	HP:0000939	Osteoporosis
OMIM:233400	HSD17B4	3295	HP:0001762	Talipes equinovarus
OMIM:233400	HSD17B4	3295	HP:0007141	Sensorimotor neuropathy
OMIM:233400	HSD17B4	3295	HP:0100543	Cognitive impairment
OMIM:233400	HSD17B4	3295	HP:0001260	Dysarthria
OMIM:233400	HSD17B4	3295	HP:0000133	Gonadal dysgenesis
OMIM:233400	HSD17B4	3295	HP:0000218	High palate
OMIM:233400	HSD17B4	3295	HP:0002066	Gait ataxia
OMIM:233400	HSD17B4	3295	HP:0001272	Cerebellar atrophy
OMIM:233400	HSD17B4	3295	HP:0000407	Sensorineural hearing impairment
OMIM:233400	HSD17B4	3295	HP:0007941	Limited extraocular movements
OMIM:233400	HSD17B4	3295	HP:0001284	Areflexia
OMIM:233400	HSD17B4	3295	HP:0002650	Scoliosis
OMIM:233400	HSD17B4	3295	HP:0001761	Pes cavus
OMIM:233400	HSD17B4	3295	HP:0004322	Short stature
OMIM:233400	HSD17B4	3295	HP:0000639	Nystagmus
OMIM:233400	HSD17B4	3295	HP:0003812	Phenotypic variability
OMIM:233400	HSD17B4	3295	HP:0000786	Primary amenorrhea
OMIM:233400	HSD17B4	3295	HP:0001270	Motor delay
OMIM:233400	HSD17B4	3295	HP:0000007	Autosomal recessive inheritance
OMIM:233400	HSD17B4	3295	HP:0001265	Hyporeflexia
OMIM:614594	TRPV3	162514	HP:0008070	Sparse hair
OMIM:614594	TRPV3	162514	HP:0008404	Nail dystrophy
OMIM:614594	TRPV3	162514	HP:0007957	Corneal opacity
OMIM:614594	TRPV3	162514	HP:0001371	Flexion contracture
OMIM:614594	TRPV3	162514	HP:0002164	Nail dysplasia
OMIM:614594	TRPV3	162514	HP:0007759	Opacification of the corneal stroma
OMIM:614594	TRPV3	162514	HP:0000989	Pruritus
OMIM:614594	TRPV3	162514	HP:0000982	Palmoplantar keratoderma
OMIM:614594	TRPV3	162514	HP:0000975	Hyperhidrosis
OMIM:614594	TRPV3	162514	HP:0000006	Autosomal dominant inheritance
OMIM:614594	MBTPS2	51360	HP:0008070	Sparse hair
OMIM:614594	MBTPS2	51360	HP:0008404	Nail dystrophy
OMIM:614594	MBTPS2	51360	HP:0007957	Corneal opacity
OMIM:614594	MBTPS2	51360	HP:0001371	Flexion contracture
OMIM:614594	MBTPS2	51360	HP:0002164	Nail dysplasia
OMIM:614594	MBTPS2	51360	HP:0007759	Opacification of the corneal stroma
OMIM:614594	MBTPS2	51360	HP:0000989	Pruritus
OMIM:614594	MBTPS2	51360	HP:0000982	Palmoplantar keratoderma
OMIM:614594	MBTPS2	51360	HP:0000975	Hyperhidrosis
OMIM:614594	MBTPS2	51360	HP:0000006	Autosomal dominant inheritance
OMIM:201400	TBX19	9095	HP:0008163	Decreased circulating cortisol level
OMIM:201400	TBX19	9095	HP:0000835	Adrenal hypoplasia
OMIM:201400	TBX19	9095	HP:0000007	Autosomal recessive inheritance
OMIM:167770	REG1A	5967	HP:0000006	Autosomal dominant inheritance
OMIM:167770	REG1A	5967	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:259775	FAM20C	56975	HP:0000303	Mandibular prognathia
OMIM:259775	FAM20C	56975	HP:0000470	Short neck
OMIM:259775	FAM20C	56975	HP:0000126	Hydronephrosis
OMIM:259775	FAM20C	56975	HP:0000252	Microcephaly
OMIM:259775	FAM20C	56975	HP:0003196	Short nose
OMIM:259775	FAM20C	56975	HP:0000316	Hypertelorism
OMIM:259775	FAM20C	56975	HP:0000457	Depressed nasal ridge
OMIM:259775	FAM20C	56975	HP:0000520	Proptosis
OMIM:259775	FAM20C	56975	HP:0000347	Micrognathia
OMIM:259775	FAM20C	56975	HP:0000695	Natal tooth
OMIM:259775	FAM20C	56975	HP:0002514	Cerebral calcification
OMIM:259775	FAM20C	56975	HP:0006487	Bowing of the long bones
OMIM:259775	FAM20C	56975	HP:0000160	Narrow mouth
OMIM:259775	FAM20C	56975	HP:0002983	Micromelia
OMIM:259775	FAM20C	56975	HP:0000175	Cleft palate
OMIM:259775	FAM20C	56975	HP:0002804	Arthrogryposis multiplex congenita
OMIM:259775	FAM20C	56975	HP:0001357	Plagiocephaly
OMIM:259775	FAM20C	56975	HP:0002148	Hypophosphatemia
OMIM:259775	FAM20C	56975	HP:0010808	Protruding tongue
OMIM:259775	FAM20C	56975	HP:0000494	Downslanted palpebral fissures
OMIM:259775	FAM20C	56975	HP:0000212	Gingival overgrowth
OMIM:259775	FAM20C	56975	HP:0000767	Pectus excavatum
OMIM:259775	FAM20C	56975	HP:0000272	Malar flattening
OMIM:259775	FAM20C	56975	HP:0006297	Hypoplasia of dental enamel
OMIM:259775	FAM20C	56975	HP:0000238	Hydrocephalus
OMIM:259775	FAM20C	56975	HP:0000007	Autosomal recessive inheritance
OMIM:259775	FAM20C	56975	HP:0000463	Anteverted nares
OMIM:259775	FAM20C	56975	HP:0000691	Microdontia
OMIM:259775	FAM20C	56975	HP:0002093	Respiratory insufficiency
OMIM:259775	FAM20C	56975	HP:0005257	Thoracic hypoplasia
OMIM:259775	FAM20C	56975	HP:0000154	Wide mouth
OMIM:259775	FAM20C	56975	HP:0000453	Choanal atresia
OMIM:259775	FAM20C	56975	HP:0002089	Pulmonary hypoplasia
OMIM:259775	FAM20C	56975	HP:0000452	Choanal stenosis
OMIM:259775	FAM20C	56975	HP:0011001	Increased bone mineral density
OMIM:259775	FAM20C	56975	HP:0000411	Protruding ear
OMIM:259775	FAM20C	56975	HP:0001511	Intrauterine growth retardation
OMIM:259775	FAM20C	56975	HP:0011800	Hypoplasia of midface
OMIM:259775	FAM20C	56975	HP:0000368	Low-set, posteriorly rotated ears
OMIM:259775	FAM20C	56975	HP:0001156	Brachydactyly syndrome
OMIM:259775	FAM20C	56975	HP:0002553	Highly arched eyebrow
OMIM:259775	FAM20C	56975	HP:0005280	Depressed nasal bridge
OMIM:259775	FAM20C	56975	HP:0004322	Short stature
OMIM:259775	FAM20C	56975	HP:0000239	Large fontanelles
OMIM:259775	FAM20C	56975	HP:0100625	Enlarged thorax
OMIM:259775	FAM20C	56975	HP:0000218	High palate
OMIM:615895	RNF31	55072	HP:0002650	Scoliosis
OMIM:615895	RNF31	55072	HP:0003326	Myalgia
OMIM:615895	RNF31	55072	HP:0002240	Hepatomegaly
OMIM:615895	RNF31	55072	HP:0002721	Immunodeficiency
OMIM:615895	RNF31	55072	HP:0002716	Lymphadenopathy
OMIM:615895	RNF31	55072	HP:0000964	Eczema
OMIM:615895	RNF31	55072	HP:0003701	Proximal muscle weakness
OMIM:615895	RNF31	55072	HP:0002910	Elevated hepatic transaminases
OMIM:615895	RNF31	55072	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615895	RNF31	55072	HP:0001644	Dilated cardiomyopathy
OMIM:615895	RNF31	55072	HP:0001508	Failure to thrive
OMIM:615895	RNF31	55072	HP:0000508	Ptosis
OMIM:615895	RNF31	55072	HP:0002719	Recurrent infections
OMIM:615895	RNF31	55072	HP:0001510	Growth delay
OMIM:615895	RBCK1	10616	HP:0002650	Scoliosis
OMIM:615895	RBCK1	10616	HP:0003326	Myalgia
OMIM:615895	RBCK1	10616	HP:0002240	Hepatomegaly
OMIM:615895	RBCK1	10616	HP:0002721	Immunodeficiency
OMIM:615895	RBCK1	10616	HP:0002716	Lymphadenopathy
OMIM:615895	RBCK1	10616	HP:0000964	Eczema
OMIM:615895	RBCK1	10616	HP:0003701	Proximal muscle weakness
OMIM:615895	RBCK1	10616	HP:0002910	Elevated hepatic transaminases
OMIM:615895	RBCK1	10616	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615895	RBCK1	10616	HP:0001644	Dilated cardiomyopathy
OMIM:615895	RBCK1	10616	HP:0001508	Failure to thrive
OMIM:615895	RBCK1	10616	HP:0000508	Ptosis
OMIM:615895	RBCK1	10616	HP:0002719	Recurrent infections
OMIM:615895	RBCK1	10616	HP:0001510	Growth delay
OMIM:125595	KRT14	3861	HP:0000502	Abnormality of the conjunctiva
OMIM:125595	KRT14	3861	HP:0000006	Autosomal dominant inheritance
OMIM:125595	KRT14	3861	HP:0008404	Nail dystrophy
OMIM:125595	KRT14	3861	HP:0007550	Hypohidrosis or hyperhidrosis
OMIM:612922	CD46	4179	HP:0000093	Proteinuria
OMIM:612922	CD46	4179	HP:0001919	Acute kidney injury
OMIM:612922	CD46	4179	HP:0001873	Thrombocytopenia
OMIM:612922	CD46	4179	HP:0000790	Hematuria
OMIM:612922	CD46	4179	HP:0001937	Microangiopathic hemolytic anemia
OMIM:612922	CD46	4179	HP:0000007	Autosomal recessive inheritance
OMIM:612922	CD46	4179	HP:0005575	Hemolytic-uremic syndrome
OMIM:612922	CD46	4179	HP:0003138	Increased blood urea nitrogen (BUN)
OMIM:612922	CD46	4179	HP:0000822	Hypertension
OMIM:612922	CD46	4179	HP:0003259	Elevated serum creatinine
OMIM:612922	CD46	4179	HP:0100519	Anuria
OMIM:612922	CD46	4179	HP:0000006	Autosomal dominant inheritance
OMIM:614165	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:614165	SDHAF2	54949	HP:0000006	Autosomal dominant inheritance
OMIM:614165	MAX	4149	HP:0000006	Autosomal dominant inheritance
OMIM:614165	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:614165	TMEM127	55654	HP:0000006	Autosomal dominant inheritance
OMIM:614165	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:614165	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:614165	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:614165	FH	2271	HP:0000006	Autosomal dominant inheritance
OMIM:604273	ATP5E	514	HP:0003593	Infantile onset
OMIM:604273	ATP5E	514	HP:0001508	Failure to thrive
OMIM:604273	ATP5E	514	HP:0000007	Autosomal recessive inheritance
OMIM:604273	ATP5E	514	HP:0000369	Low-set ears
OMIM:604273	ATP5E	514	HP:0000426	Prominent nasal bridge
OMIM:604273	ATP5E	514	HP:0004322	Short stature
OMIM:604273	ATP5E	514	HP:0001252	Muscular hypotonia
OMIM:604273	ATP5E	514	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604273	ATP5E	514	HP:0003128	Lactic acidosis
OMIM:604273	ATP5E	514	HP:0000252	Microcephaly
OMIM:604273	ATP5E	514	HP:0000028	Cryptorchidism
OMIM:604273	ATP5E	514	HP:0000047	Hypospadias
OMIM:604273	ATP5E	514	HP:0002151	Increased serum lactate
OMIM:604273	ATP5E	514	HP:0002240	Hepatomegaly
OMIM:604273	ATP5E	514	HP:0001251	Ataxia
OMIM:604273	ATP5E	514	HP:0001263	Global developmental delay
OMIM:604273	ATP5E	514	HP:0000278	Retrognathia
OMIM:604273	ATP5E	514	HP:0001987	Hyperammonemia
OMIM:604273	ATP5A1	498	HP:0003593	Infantile onset
OMIM:604273	ATP5A1	498	HP:0001508	Failure to thrive
OMIM:604273	ATP5A1	498	HP:0000007	Autosomal recessive inheritance
OMIM:604273	ATP5A1	498	HP:0000369	Low-set ears
OMIM:604273	ATP5A1	498	HP:0000426	Prominent nasal bridge
OMIM:604273	ATP5A1	498	HP:0004322	Short stature
OMIM:604273	ATP5A1	498	HP:0001252	Muscular hypotonia
OMIM:604273	ATP5A1	498	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604273	ATP5A1	498	HP:0003128	Lactic acidosis
OMIM:604273	ATP5A1	498	HP:0000252	Microcephaly
OMIM:604273	ATP5A1	498	HP:0000028	Cryptorchidism
OMIM:604273	ATP5A1	498	HP:0000047	Hypospadias
OMIM:604273	ATP5A1	498	HP:0002151	Increased serum lactate
OMIM:604273	ATP5A1	498	HP:0002240	Hepatomegaly
OMIM:604273	ATP5A1	498	HP:0001251	Ataxia
OMIM:604273	ATP5A1	498	HP:0001263	Global developmental delay
OMIM:604273	ATP5A1	498	HP:0000278	Retrognathia
OMIM:604273	ATP5A1	498	HP:0001987	Hyperammonemia
OMIM:604273	ATPAF1	64756	HP:0003593	Infantile onset
OMIM:604273	ATPAF1	64756	HP:0001508	Failure to thrive
OMIM:604273	ATPAF1	64756	HP:0000007	Autosomal recessive inheritance
OMIM:604273	ATPAF1	64756	HP:0000369	Low-set ears
OMIM:604273	ATPAF1	64756	HP:0000426	Prominent nasal bridge
OMIM:604273	ATPAF1	64756	HP:0004322	Short stature
OMIM:604273	ATPAF1	64756	HP:0001252	Muscular hypotonia
OMIM:604273	ATPAF1	64756	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604273	ATPAF1	64756	HP:0003128	Lactic acidosis
OMIM:604273	ATPAF1	64756	HP:0000252	Microcephaly
OMIM:604273	ATPAF1	64756	HP:0000028	Cryptorchidism
OMIM:604273	ATPAF1	64756	HP:0000047	Hypospadias
OMIM:604273	ATPAF1	64756	HP:0002151	Increased serum lactate
OMIM:604273	ATPAF1	64756	HP:0002240	Hepatomegaly
OMIM:604273	ATPAF1	64756	HP:0001251	Ataxia
OMIM:604273	ATPAF1	64756	HP:0001263	Global developmental delay
OMIM:604273	ATPAF1	64756	HP:0000278	Retrognathia
OMIM:604273	ATPAF1	64756	HP:0001987	Hyperammonemia
OMIM:604273	ATPAF2	91647	HP:0003593	Infantile onset
OMIM:604273	ATPAF2	91647	HP:0001508	Failure to thrive
OMIM:604273	ATPAF2	91647	HP:0000007	Autosomal recessive inheritance
OMIM:604273	ATPAF2	91647	HP:0000369	Low-set ears
OMIM:604273	ATPAF2	91647	HP:0000426	Prominent nasal bridge
OMIM:604273	ATPAF2	91647	HP:0004322	Short stature
OMIM:604273	ATPAF2	91647	HP:0001252	Muscular hypotonia
OMIM:604273	ATPAF2	91647	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604273	ATPAF2	91647	HP:0003128	Lactic acidosis
OMIM:604273	ATPAF2	91647	HP:0000252	Microcephaly
OMIM:604273	ATPAF2	91647	HP:0000028	Cryptorchidism
OMIM:604273	ATPAF2	91647	HP:0000047	Hypospadias
OMIM:604273	ATPAF2	91647	HP:0002151	Increased serum lactate
OMIM:604273	ATPAF2	91647	HP:0002240	Hepatomegaly
OMIM:604273	ATPAF2	91647	HP:0001251	Ataxia
OMIM:604273	ATPAF2	91647	HP:0001263	Global developmental delay
OMIM:604273	ATPAF2	91647	HP:0000278	Retrognathia
OMIM:604273	ATPAF2	91647	HP:0001987	Hyperammonemia
OMIM:601216	LTBP3	4054	HP:0000687	Widely spaced teeth
OMIM:601216	LTBP3	4054	HP:0000926	Platyspondyly
OMIM:601216	LTBP3	4054	HP:0000303	Mandibular prognathia
OMIM:601216	LTBP3	4054	HP:0000327	Hypoplasia of the maxilla
OMIM:601216	LTBP3	4054	HP:0000007	Autosomal recessive inheritance
OMIM:601216	LTBP3	4054	HP:0000691	Microdontia
OMIM:601216	LTBP3	4054	HP:0004322	Short stature
OMIM:601216	LTBP3	4054	HP:0002750	Delayed skeletal maturation
OMIM:260400	SBDS	51119	HP:0001256	Intellectual disability, mild
OMIM:260400	SBDS	51119	HP:0002910	Elevated hepatic transaminases
OMIM:260400	SBDS	51119	HP:0000121	Nephrocalcinosis
OMIM:260400	SBDS	51119	HP:0001875	Neutropenia
OMIM:260400	SBDS	51119	HP:0001288	Gait disturbance
OMIM:260400	SBDS	51119	HP:0005528	Bone marrow hypocellularity
OMIM:260400	SBDS	51119	HP:0000670	Carious teeth
OMIM:260400	SBDS	51119	HP:0002570	Steatorrhea
OMIM:260400	SBDS	51119	HP:0002863	Myelodysplasia
OMIM:260400	SBDS	51119	HP:0004979	Metaphyseal sclerosis
OMIM:260400	SBDS	51119	HP:0002812	Coxa vara
OMIM:260400	SBDS	51119	HP:0004322	Short stature
OMIM:260400	SBDS	51119	HP:0001508	Failure to thrive
OMIM:260400	SBDS	51119	HP:0001263	Global developmental delay
OMIM:260400	SBDS	51119	HP:0002750	Delayed skeletal maturation
OMIM:260400	SBDS	51119	HP:0003016	Metaphyseal widening
OMIM:260400	SBDS	51119	HP:0002240	Hepatomegaly
OMIM:260400	SBDS	51119	HP:0001876	Pancytopenia
OMIM:260400	SBDS	51119	HP:0000007	Autosomal recessive inheritance
OMIM:260400	SBDS	51119	HP:0000920	Enlargement of the costochondral junction
OMIM:260400	SBDS	51119	HP:0000774	Narrow chest
OMIM:260400	SBDS	51119	HP:0002650	Scoliosis
OMIM:260400	SBDS	51119	HP:0001873	Thrombocytopenia
OMIM:260400	SBDS	51119	HP:0100543	Cognitive impairment
OMIM:260400	SBDS	51119	HP:0001518	Small for gestational age
OMIM:260400	SBDS	51119	HP:0008064	Ichthyosis
OMIM:260400	SBDS	51119	HP:0004349	Reduced bone mineral density
OMIM:260400	SBDS	51119	HP:0003300	Ovoid vertebral bodies
OMIM:260400	SBDS	51119	HP:0000964	Eczema
OMIM:260400	SBDS	51119	HP:0000691	Microdontia
OMIM:260400	SBDS	51119	HP:0000768	Pectus carinatum
OMIM:260400	SBDS	51119	HP:0001328	Specific learning disability
OMIM:260400	SBDS	51119	HP:0001972	Macrocytic anemia
OMIM:260400	SBDS	51119	HP:0002719	Recurrent infections
OMIM:260400	SBDS	51119	HP:0010306	Short thorax
OMIM:612300	CD59	966	HP:0000007	Autosomal recessive inheritance
OMIM:612300	CD59	966	HP:0001878	Hemolytic anemia
OMIM:612300	CD59	966	HP:0003690	Limb muscle weakness
OMIM:612300	CD59	966	HP:0002922	Increased CSF protein
OMIM:612300	CD59	966	HP:0001252	Muscular hypotonia
OMIM:612300	CD59	966	HP:0001284	Areflexia
OMIM:612300	CD59	966	HP:0003202	Skeletal muscle atrophy
OMIM:301200	SLC24A4	123041	HP:0001423	X-linked dominant inheritance
OMIM:301200	SLC24A4	123041	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301200	SLC24A4	123041	HP:0003812	Phenotypic variability
OMIM:301200	SLC24A4	123041	HP:0006297	Hypoplasia of dental enamel
OMIM:301200	SLC24A4	123041	HP:0000691	Microdontia
OMIM:301200	MMP20	9313	HP:0001423	X-linked dominant inheritance
OMIM:301200	MMP20	9313	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301200	MMP20	9313	HP:0003812	Phenotypic variability
OMIM:301200	MMP20	9313	HP:0006297	Hypoplasia of dental enamel
OMIM:301200	MMP20	9313	HP:0000691	Microdontia
OMIM:301200	C4ORF26	152816	HP:0001423	X-linked dominant inheritance
OMIM:301200	C4ORF26	152816	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301200	C4ORF26	152816	HP:0003812	Phenotypic variability
OMIM:301200	C4ORF26	152816	HP:0006297	Hypoplasia of dental enamel
OMIM:301200	C4ORF26	152816	HP:0000691	Microdontia
OMIM:301200	KLK4	9622	HP:0001423	X-linked dominant inheritance
OMIM:301200	KLK4	9622	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301200	KLK4	9622	HP:0003812	Phenotypic variability
OMIM:301200	KLK4	9622	HP:0006297	Hypoplasia of dental enamel
OMIM:301200	KLK4	9622	HP:0000691	Microdontia
OMIM:301200	AMELX	265	HP:0001423	X-linked dominant inheritance
OMIM:301200	AMELX	265	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301200	AMELX	265	HP:0003812	Phenotypic variability
OMIM:301200	AMELX	265	HP:0006297	Hypoplasia of dental enamel
OMIM:301200	AMELX	265	HP:0000691	Microdontia
OMIM:301200	WDR72	256764	HP:0001423	X-linked dominant inheritance
OMIM:301200	WDR72	256764	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301200	WDR72	256764	HP:0003812	Phenotypic variability
OMIM:301200	WDR72	256764	HP:0006297	Hypoplasia of dental enamel
OMIM:301200	WDR72	256764	HP:0000691	Microdontia
OMIM:600045	DDB1	1642	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600045	DDB1	1642	HP:0000007	Autosomal recessive inheritance
OMIM:600045	DDB1	1642	HP:0000951	Abnormality of the skin
ORPHANET:220493	CEP41	95681	HP:0000202	Oral cleft
ORPHANET:220493	CEP41	95681	HP:0000508	Ptosis
ORPHANET:220493	CEP41	95681	HP:0001252	Muscular hypotonia
ORPHANET:220493	CEP41	95681	HP:0000341	Narrow forehead
ORPHANET:220493	CEP41	95681	HP:0000639	Nystagmus
ORPHANET:220493	CEP41	95681	HP:0001829	Foot polydactyly
ORPHANET:220493	CEP41	95681	HP:0001696	Situs inversus totalis
ORPHANET:220493	CEP41	95681	HP:0001337	Tremor
ORPHANET:220493	CEP41	95681	HP:0002553	Highly arched eyebrow
ORPHANET:220493	CEP41	95681	HP:0000426	Prominent nasal bridge
ORPHANET:220493	CEP41	95681	HP:0001161	Hand polydactyly
ORPHANET:220493	CEP41	95681	HP:0000238	Hydrocephalus
ORPHANET:220493	CEP41	95681	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:220493	CEP41	95681	HP:0002084	Encephalocele
ORPHANET:220493	CEP41	95681	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:220493	CEP41	95681	HP:0000567	Chorioretinal coloboma
ORPHANET:220493	CEP41	95681	HP:0002104	Apnea
ORPHANET:220493	CEP41	95681	HP:0001288	Gait disturbance
ORPHANET:220493	CEP41	95681	HP:0000486	Strabismus
ORPHANET:220493	CEP41	95681	HP:0001250	Seizures
ORPHANET:220493	CEP41	95681	HP:0100543	Cognitive impairment
ORPHANET:220493	CEP41	95681	HP:0000657	Oculomotor apraxia
ORPHANET:220493	CEP41	95681	HP:0000276	Long face
ORPHANET:220493	CEP41	95681	HP:0000505	Visual impairment
ORPHANET:220493	CEP41	95681	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:220493	CEP41	95681	HP:0002311	Incoordination
ORPHANET:220493	CEP41	95681	HP:0002650	Scoliosis
ORPHANET:220493	CEP41	95681	HP:0002269	Abnormality of neuronal migration
ORPHANET:220493	CEP41	95681	HP:0000612	Iris coloboma
ORPHANET:220493	CEP41	95681	HP:0000463	Anteverted nares
ORPHANET:220493	CEP41	95681	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:220493	CEP41	95681	HP:0002251	Aganglionic megacolon
ORPHANET:220493	AHI1	54806	HP:0000202	Oral cleft
ORPHANET:220493	AHI1	54806	HP:0000508	Ptosis
ORPHANET:220493	AHI1	54806	HP:0001252	Muscular hypotonia
ORPHANET:220493	AHI1	54806	HP:0000341	Narrow forehead
ORPHANET:220493	AHI1	54806	HP:0000639	Nystagmus
ORPHANET:220493	AHI1	54806	HP:0001829	Foot polydactyly
ORPHANET:220493	AHI1	54806	HP:0001696	Situs inversus totalis
ORPHANET:220493	AHI1	54806	HP:0001337	Tremor
ORPHANET:220493	AHI1	54806	HP:0002553	Highly arched eyebrow
ORPHANET:220493	AHI1	54806	HP:0000426	Prominent nasal bridge
ORPHANET:220493	AHI1	54806	HP:0001161	Hand polydactyly
ORPHANET:220493	AHI1	54806	HP:0000238	Hydrocephalus
ORPHANET:220493	AHI1	54806	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:220493	AHI1	54806	HP:0002084	Encephalocele
ORPHANET:220493	AHI1	54806	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:220493	AHI1	54806	HP:0000567	Chorioretinal coloboma
ORPHANET:220493	AHI1	54806	HP:0002104	Apnea
ORPHANET:220493	AHI1	54806	HP:0001288	Gait disturbance
ORPHANET:220493	AHI1	54806	HP:0000486	Strabismus
ORPHANET:220493	AHI1	54806	HP:0001250	Seizures
ORPHANET:220493	AHI1	54806	HP:0100543	Cognitive impairment
ORPHANET:220493	AHI1	54806	HP:0000657	Oculomotor apraxia
ORPHANET:220493	AHI1	54806	HP:0000276	Long face
ORPHANET:220493	AHI1	54806	HP:0000505	Visual impairment
ORPHANET:220493	AHI1	54806	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:220493	AHI1	54806	HP:0002311	Incoordination
ORPHANET:220493	AHI1	54806	HP:0002650	Scoliosis
ORPHANET:220493	AHI1	54806	HP:0002269	Abnormality of neuronal migration
ORPHANET:220493	AHI1	54806	HP:0000612	Iris coloboma
ORPHANET:220493	AHI1	54806	HP:0000463	Anteverted nares
ORPHANET:220493	AHI1	54806	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:220493	AHI1	54806	HP:0002251	Aganglionic megacolon
ORPHANET:220493	MKS1	54903	HP:0000202	Oral cleft
ORPHANET:220493	MKS1	54903	HP:0000508	Ptosis
ORPHANET:220493	MKS1	54903	HP:0001252	Muscular hypotonia
ORPHANET:220493	MKS1	54903	HP:0000341	Narrow forehead
ORPHANET:220493	MKS1	54903	HP:0000639	Nystagmus
ORPHANET:220493	MKS1	54903	HP:0001829	Foot polydactyly
ORPHANET:220493	MKS1	54903	HP:0001696	Situs inversus totalis
ORPHANET:220493	MKS1	54903	HP:0001337	Tremor
ORPHANET:220493	MKS1	54903	HP:0002553	Highly arched eyebrow
ORPHANET:220493	MKS1	54903	HP:0000426	Prominent nasal bridge
ORPHANET:220493	MKS1	54903	HP:0001161	Hand polydactyly
ORPHANET:220493	MKS1	54903	HP:0000238	Hydrocephalus
ORPHANET:220493	MKS1	54903	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:220493	MKS1	54903	HP:0002084	Encephalocele
ORPHANET:220493	MKS1	54903	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:220493	MKS1	54903	HP:0000567	Chorioretinal coloboma
ORPHANET:220493	MKS1	54903	HP:0002104	Apnea
ORPHANET:220493	MKS1	54903	HP:0001288	Gait disturbance
ORPHANET:220493	MKS1	54903	HP:0000486	Strabismus
ORPHANET:220493	MKS1	54903	HP:0001250	Seizures
ORPHANET:220493	MKS1	54903	HP:0100543	Cognitive impairment
ORPHANET:220493	MKS1	54903	HP:0000657	Oculomotor apraxia
ORPHANET:220493	MKS1	54903	HP:0000276	Long face
ORPHANET:220493	MKS1	54903	HP:0000505	Visual impairment
ORPHANET:220493	MKS1	54903	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:220493	MKS1	54903	HP:0002311	Incoordination
ORPHANET:220493	MKS1	54903	HP:0002650	Scoliosis
ORPHANET:220493	MKS1	54903	HP:0002269	Abnormality of neuronal migration
ORPHANET:220493	MKS1	54903	HP:0000612	Iris coloboma
ORPHANET:220493	MKS1	54903	HP:0000463	Anteverted nares
ORPHANET:220493	MKS1	54903	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:220493	MKS1	54903	HP:0002251	Aganglionic megacolon
ORPHANET:220493	INPP5E	56623	HP:0000202	Oral cleft
ORPHANET:220493	INPP5E	56623	HP:0000508	Ptosis
ORPHANET:220493	INPP5E	56623	HP:0001252	Muscular hypotonia
ORPHANET:220493	INPP5E	56623	HP:0000341	Narrow forehead
ORPHANET:220493	INPP5E	56623	HP:0000639	Nystagmus
ORPHANET:220493	INPP5E	56623	HP:0001829	Foot polydactyly
ORPHANET:220493	INPP5E	56623	HP:0001696	Situs inversus totalis
ORPHANET:220493	INPP5E	56623	HP:0001337	Tremor
ORPHANET:220493	INPP5E	56623	HP:0002553	Highly arched eyebrow
ORPHANET:220493	INPP5E	56623	HP:0000426	Prominent nasal bridge
ORPHANET:220493	INPP5E	56623	HP:0001161	Hand polydactyly
ORPHANET:220493	INPP5E	56623	HP:0000238	Hydrocephalus
ORPHANET:220493	INPP5E	56623	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:220493	INPP5E	56623	HP:0002084	Encephalocele
ORPHANET:220493	INPP5E	56623	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:220493	INPP5E	56623	HP:0000567	Chorioretinal coloboma
ORPHANET:220493	INPP5E	56623	HP:0002104	Apnea
ORPHANET:220493	INPP5E	56623	HP:0001288	Gait disturbance
ORPHANET:220493	INPP5E	56623	HP:0000486	Strabismus
ORPHANET:220493	INPP5E	56623	HP:0001250	Seizures
ORPHANET:220493	INPP5E	56623	HP:0100543	Cognitive impairment
ORPHANET:220493	INPP5E	56623	HP:0000657	Oculomotor apraxia
ORPHANET:220493	INPP5E	56623	HP:0000276	Long face
ORPHANET:220493	INPP5E	56623	HP:0000505	Visual impairment
ORPHANET:220493	INPP5E	56623	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:220493	INPP5E	56623	HP:0002311	Incoordination
ORPHANET:220493	INPP5E	56623	HP:0002650	Scoliosis
ORPHANET:220493	INPP5E	56623	HP:0002269	Abnormality of neuronal migration
ORPHANET:220493	INPP5E	56623	HP:0000612	Iris coloboma
ORPHANET:220493	INPP5E	56623	HP:0000463	Anteverted nares
ORPHANET:220493	INPP5E	56623	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:220493	INPP5E	56623	HP:0002251	Aganglionic megacolon
OMIM:104150	AFP	174	HP:0000007	Autosomal recessive inheritance
OMIM:104150	AFP	174	HP:0000006	Autosomal dominant inheritance
OMIM:165200	ND3	4537	HP:0007305	CNS demyelination
OMIM:165200	ND3	4537	HP:0001251	Ataxia
OMIM:165200	ND3	4537	HP:0011096	Peripheral demyelination
OMIM:165200	ND3	4537	HP:0000648	Optic atrophy
OMIM:165200	ND3	4537	HP:0001260	Dysarthria
OMIM:165200	ND3	4537	HP:0000006	Autosomal dominant inheritance
OMIM:165200	ND4	4538	HP:0007305	CNS demyelination
OMIM:165200	ND4	4538	HP:0001251	Ataxia
OMIM:165200	ND4	4538	HP:0011096	Peripheral demyelination
OMIM:165200	ND4	4538	HP:0000648	Optic atrophy
OMIM:165200	ND4	4538	HP:0001260	Dysarthria
OMIM:165200	ND4	4538	HP:0000006	Autosomal dominant inheritance
OMIM:165200	ND6	4541	HP:0007305	CNS demyelination
OMIM:165200	ND6	4541	HP:0001251	Ataxia
OMIM:165200	ND6	4541	HP:0011096	Peripheral demyelination
OMIM:165200	ND6	4541	HP:0000648	Optic atrophy
OMIM:165200	ND6	4541	HP:0001260	Dysarthria
OMIM:165200	ND6	4541	HP:0000006	Autosomal dominant inheritance
OMIM:613885	B9D1	27077	HP:0000175	Cleft palate
OMIM:613885	B9D1	27077	HP:0001762	Talipes equinovarus
OMIM:613885	B9D1	27077	HP:0000204	Cleft upper lip
OMIM:613885	B9D1	27077	HP:0004719	Hyperechogenic kidneys
OMIM:613885	B9D1	27077	HP:0000528	Anophthalmia
OMIM:613885	B9D1	27077	HP:0000457	Depressed nasal ridge
OMIM:613885	B9D1	27077	HP:0000252	Microcephaly
OMIM:613885	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:613885	B9D1	27077	HP:0000369	Low-set ears
OMIM:613885	B9D1	27077	HP:0002084	Encephalocele
OMIM:613885	B9D1	27077	HP:0010442	Polydactyly
OMIM:613885	B9D1	27077	HP:0001162	Postaxial hand polydactyly
OMIM:613885	B9D1	27077	HP:0000568	Microphthalmia
OMIM:613885	B9D1	27077	HP:0000337	Broad forehead
OMIM:613885	B9D1	27077	HP:0003196	Short nose
OMIM:613885	B9D1	27077	HP:0003270	Abdominal distention
OMIM:613885	B9D1	27077	HP:0000470	Short neck
OMIM:613885	RPGRIP1	57096	HP:0000175	Cleft palate
OMIM:613885	RPGRIP1	57096	HP:0001762	Talipes equinovarus
OMIM:613885	RPGRIP1	57096	HP:0000204	Cleft upper lip
OMIM:613885	RPGRIP1	57096	HP:0004719	Hyperechogenic kidneys
OMIM:613885	RPGRIP1	57096	HP:0000528	Anophthalmia
OMIM:613885	RPGRIP1	57096	HP:0000457	Depressed nasal ridge
OMIM:613885	RPGRIP1	57096	HP:0000252	Microcephaly
OMIM:613885	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:613885	RPGRIP1	57096	HP:0000369	Low-set ears
OMIM:613885	RPGRIP1	57096	HP:0002084	Encephalocele
OMIM:613885	RPGRIP1	57096	HP:0010442	Polydactyly
OMIM:613885	RPGRIP1	57096	HP:0001162	Postaxial hand polydactyly
OMIM:613885	RPGRIP1	57096	HP:0000568	Microphthalmia
OMIM:613885	RPGRIP1	57096	HP:0000337	Broad forehead
OMIM:613885	RPGRIP1	57096	HP:0003196	Short nose
OMIM:613885	RPGRIP1	57096	HP:0003270	Abdominal distention
OMIM:613885	RPGRIP1	57096	HP:0000470	Short neck
OMIM:613885	CC2D2A	57545	HP:0000175	Cleft palate
OMIM:613885	CC2D2A	57545	HP:0001762	Talipes equinovarus
OMIM:613885	CC2D2A	57545	HP:0000204	Cleft upper lip
OMIM:613885	CC2D2A	57545	HP:0004719	Hyperechogenic kidneys
OMIM:613885	CC2D2A	57545	HP:0000528	Anophthalmia
OMIM:613885	CC2D2A	57545	HP:0000457	Depressed nasal ridge
OMIM:613885	CC2D2A	57545	HP:0000252	Microcephaly
OMIM:613885	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:613885	CC2D2A	57545	HP:0000369	Low-set ears
OMIM:613885	CC2D2A	57545	HP:0002084	Encephalocele
OMIM:613885	CC2D2A	57545	HP:0010442	Polydactyly
OMIM:613885	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:613885	CC2D2A	57545	HP:0000568	Microphthalmia
OMIM:613885	CC2D2A	57545	HP:0000337	Broad forehead
OMIM:613885	CC2D2A	57545	HP:0003196	Short nose
OMIM:613885	CC2D2A	57545	HP:0003270	Abdominal distention
OMIM:613885	CC2D2A	57545	HP:0000470	Short neck
OMIM:613885	B9D2	80776	HP:0000175	Cleft palate
OMIM:613885	B9D2	80776	HP:0001762	Talipes equinovarus
OMIM:613885	B9D2	80776	HP:0000204	Cleft upper lip
OMIM:613885	B9D2	80776	HP:0004719	Hyperechogenic kidneys
OMIM:613885	B9D2	80776	HP:0000528	Anophthalmia
OMIM:613885	B9D2	80776	HP:0000457	Depressed nasal ridge
OMIM:613885	B9D2	80776	HP:0000252	Microcephaly
OMIM:613885	B9D2	80776	HP:0000007	Autosomal recessive inheritance
OMIM:613885	B9D2	80776	HP:0000369	Low-set ears
OMIM:613885	B9D2	80776	HP:0002084	Encephalocele
OMIM:613885	B9D2	80776	HP:0010442	Polydactyly
OMIM:613885	B9D2	80776	HP:0001162	Postaxial hand polydactyly
OMIM:613885	B9D2	80776	HP:0000568	Microphthalmia
OMIM:613885	B9D2	80776	HP:0000337	Broad forehead
OMIM:613885	B9D2	80776	HP:0003196	Short nose
OMIM:613885	B9D2	80776	HP:0003270	Abdominal distention
OMIM:613885	B9D2	80776	HP:0000470	Short neck
OMIM:613885	CSPP1	79848	HP:0000175	Cleft palate
OMIM:613885	CSPP1	79848	HP:0001762	Talipes equinovarus
OMIM:613885	CSPP1	79848	HP:0000204	Cleft upper lip
OMIM:613885	CSPP1	79848	HP:0004719	Hyperechogenic kidneys
OMIM:613885	CSPP1	79848	HP:0000528	Anophthalmia
OMIM:613885	CSPP1	79848	HP:0000457	Depressed nasal ridge
OMIM:613885	CSPP1	79848	HP:0000252	Microcephaly
OMIM:613885	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:613885	CSPP1	79848	HP:0000369	Low-set ears
OMIM:613885	CSPP1	79848	HP:0002084	Encephalocele
OMIM:613885	CSPP1	79848	HP:0010442	Polydactyly
OMIM:613885	CSPP1	79848	HP:0001162	Postaxial hand polydactyly
OMIM:613885	CSPP1	79848	HP:0000568	Microphthalmia
OMIM:613885	CSPP1	79848	HP:0000337	Broad forehead
OMIM:613885	CSPP1	79848	HP:0003196	Short nose
OMIM:613885	CSPP1	79848	HP:0003270	Abdominal distention
OMIM:613885	CSPP1	79848	HP:0000470	Short neck
OMIM:613885	TMEM67	91147	HP:0000175	Cleft palate
OMIM:613885	TMEM67	91147	HP:0001762	Talipes equinovarus
OMIM:613885	TMEM67	91147	HP:0000204	Cleft upper lip
OMIM:613885	TMEM67	91147	HP:0004719	Hyperechogenic kidneys
OMIM:613885	TMEM67	91147	HP:0000528	Anophthalmia
OMIM:613885	TMEM67	91147	HP:0000457	Depressed nasal ridge
OMIM:613885	TMEM67	91147	HP:0000252	Microcephaly
OMIM:613885	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:613885	TMEM67	91147	HP:0000369	Low-set ears
OMIM:613885	TMEM67	91147	HP:0002084	Encephalocele
OMIM:613885	TMEM67	91147	HP:0010442	Polydactyly
OMIM:613885	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
OMIM:613885	TMEM67	91147	HP:0000568	Microphthalmia
OMIM:613885	TMEM67	91147	HP:0000337	Broad forehead
OMIM:613885	TMEM67	91147	HP:0003196	Short nose
OMIM:613885	TMEM67	91147	HP:0003270	Abdominal distention
OMIM:613885	TMEM67	91147	HP:0000470	Short neck
OMIM:613885	WDPCP	51057	HP:0000175	Cleft palate
OMIM:613885	WDPCP	51057	HP:0001762	Talipes equinovarus
OMIM:613885	WDPCP	51057	HP:0000204	Cleft upper lip
OMIM:613885	WDPCP	51057	HP:0004719	Hyperechogenic kidneys
OMIM:613885	WDPCP	51057	HP:0000528	Anophthalmia
OMIM:613885	WDPCP	51057	HP:0000457	Depressed nasal ridge
OMIM:613885	WDPCP	51057	HP:0000252	Microcephaly
OMIM:613885	WDPCP	51057	HP:0000007	Autosomal recessive inheritance
OMIM:613885	WDPCP	51057	HP:0000369	Low-set ears
OMIM:613885	WDPCP	51057	HP:0002084	Encephalocele
OMIM:613885	WDPCP	51057	HP:0010442	Polydactyly
OMIM:613885	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
OMIM:613885	WDPCP	51057	HP:0000568	Microphthalmia
OMIM:613885	WDPCP	51057	HP:0000337	Broad forehead
OMIM:613885	WDPCP	51057	HP:0003196	Short nose
OMIM:613885	WDPCP	51057	HP:0003270	Abdominal distention
OMIM:613885	WDPCP	51057	HP:0000470	Short neck
OMIM:613885	MKS1	54903	HP:0000175	Cleft palate
OMIM:613885	MKS1	54903	HP:0001762	Talipes equinovarus
OMIM:613885	MKS1	54903	HP:0000204	Cleft upper lip
OMIM:613885	MKS1	54903	HP:0004719	Hyperechogenic kidneys
OMIM:613885	MKS1	54903	HP:0000528	Anophthalmia
OMIM:613885	MKS1	54903	HP:0000457	Depressed nasal ridge
OMIM:613885	MKS1	54903	HP:0000252	Microcephaly
OMIM:613885	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:613885	MKS1	54903	HP:0000369	Low-set ears
OMIM:613885	MKS1	54903	HP:0002084	Encephalocele
OMIM:613885	MKS1	54903	HP:0010442	Polydactyly
OMIM:613885	MKS1	54903	HP:0001162	Postaxial hand polydactyly
OMIM:613885	MKS1	54903	HP:0000568	Microphthalmia
OMIM:613885	MKS1	54903	HP:0000337	Broad forehead
OMIM:613885	MKS1	54903	HP:0003196	Short nose
OMIM:613885	MKS1	54903	HP:0003270	Abdominal distention
OMIM:613885	MKS1	54903	HP:0000470	Short neck
OMIM:613885	CEP290	80184	HP:0000175	Cleft palate
OMIM:613885	CEP290	80184	HP:0001762	Talipes equinovarus
OMIM:613885	CEP290	80184	HP:0000204	Cleft upper lip
OMIM:613885	CEP290	80184	HP:0004719	Hyperechogenic kidneys
OMIM:613885	CEP290	80184	HP:0000528	Anophthalmia
OMIM:613885	CEP290	80184	HP:0000457	Depressed nasal ridge
OMIM:613885	CEP290	80184	HP:0000252	Microcephaly
OMIM:613885	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:613885	CEP290	80184	HP:0000369	Low-set ears
OMIM:613885	CEP290	80184	HP:0002084	Encephalocele
OMIM:613885	CEP290	80184	HP:0010442	Polydactyly
OMIM:613885	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:613885	CEP290	80184	HP:0000568	Microphthalmia
OMIM:613885	CEP290	80184	HP:0000337	Broad forehead
OMIM:613885	CEP290	80184	HP:0003196	Short nose
OMIM:613885	CEP290	80184	HP:0003270	Abdominal distention
OMIM:613885	CEP290	80184	HP:0000470	Short neck
OMIM:613885	TCTN2	79867	HP:0000175	Cleft palate
OMIM:613885	TCTN2	79867	HP:0001762	Talipes equinovarus
OMIM:613885	TCTN2	79867	HP:0000204	Cleft upper lip
OMIM:613885	TCTN2	79867	HP:0004719	Hyperechogenic kidneys
OMIM:613885	TCTN2	79867	HP:0000528	Anophthalmia
OMIM:613885	TCTN2	79867	HP:0000457	Depressed nasal ridge
OMIM:613885	TCTN2	79867	HP:0000252	Microcephaly
OMIM:613885	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:613885	TCTN2	79867	HP:0000369	Low-set ears
OMIM:613885	TCTN2	79867	HP:0002084	Encephalocele
OMIM:613885	TCTN2	79867	HP:0010442	Polydactyly
OMIM:613885	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
OMIM:613885	TCTN2	79867	HP:0000568	Microphthalmia
OMIM:613885	TCTN2	79867	HP:0000337	Broad forehead
OMIM:613885	TCTN2	79867	HP:0003196	Short nose
OMIM:613885	TCTN2	79867	HP:0003270	Abdominal distention
OMIM:613885	TCTN2	79867	HP:0000470	Short neck
OMIM:613885	RPGRIP1L	23322	HP:0000175	Cleft palate
OMIM:613885	RPGRIP1L	23322	HP:0001762	Talipes equinovarus
OMIM:613885	RPGRIP1L	23322	HP:0000204	Cleft upper lip
OMIM:613885	RPGRIP1L	23322	HP:0004719	Hyperechogenic kidneys
OMIM:613885	RPGRIP1L	23322	HP:0000528	Anophthalmia
OMIM:613885	RPGRIP1L	23322	HP:0000457	Depressed nasal ridge
OMIM:613885	RPGRIP1L	23322	HP:0000252	Microcephaly
OMIM:613885	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:613885	RPGRIP1L	23322	HP:0000369	Low-set ears
OMIM:613885	RPGRIP1L	23322	HP:0002084	Encephalocele
OMIM:613885	RPGRIP1L	23322	HP:0010442	Polydactyly
OMIM:613885	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
OMIM:613885	RPGRIP1L	23322	HP:0000568	Microphthalmia
OMIM:613885	RPGRIP1L	23322	HP:0000337	Broad forehead
OMIM:613885	RPGRIP1L	23322	HP:0003196	Short nose
OMIM:613885	RPGRIP1L	23322	HP:0003270	Abdominal distention
OMIM:613885	RPGRIP1L	23322	HP:0000470	Short neck
OMIM:613885	TMEM216	51259	HP:0000175	Cleft palate
OMIM:613885	TMEM216	51259	HP:0001762	Talipes equinovarus
OMIM:613885	TMEM216	51259	HP:0000204	Cleft upper lip
OMIM:613885	TMEM216	51259	HP:0004719	Hyperechogenic kidneys
OMIM:613885	TMEM216	51259	HP:0000528	Anophthalmia
OMIM:613885	TMEM216	51259	HP:0000457	Depressed nasal ridge
OMIM:613885	TMEM216	51259	HP:0000252	Microcephaly
OMIM:613885	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:613885	TMEM216	51259	HP:0000369	Low-set ears
OMIM:613885	TMEM216	51259	HP:0002084	Encephalocele
OMIM:613885	TMEM216	51259	HP:0010442	Polydactyly
OMIM:613885	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:613885	TMEM216	51259	HP:0000568	Microphthalmia
OMIM:613885	TMEM216	51259	HP:0000337	Broad forehead
OMIM:613885	TMEM216	51259	HP:0003196	Short nose
OMIM:613885	TMEM216	51259	HP:0003270	Abdominal distention
OMIM:613885	TMEM216	51259	HP:0000470	Short neck
OMIM:613885	TMEM231	79583	HP:0000175	Cleft palate
OMIM:613885	TMEM231	79583	HP:0001762	Talipes equinovarus
OMIM:613885	TMEM231	79583	HP:0000204	Cleft upper lip
OMIM:613885	TMEM231	79583	HP:0004719	Hyperechogenic kidneys
OMIM:613885	TMEM231	79583	HP:0000528	Anophthalmia
OMIM:613885	TMEM231	79583	HP:0000457	Depressed nasal ridge
OMIM:613885	TMEM231	79583	HP:0000252	Microcephaly
OMIM:613885	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:613885	TMEM231	79583	HP:0000369	Low-set ears
OMIM:613885	TMEM231	79583	HP:0002084	Encephalocele
OMIM:613885	TMEM231	79583	HP:0010442	Polydactyly
OMIM:613885	TMEM231	79583	HP:0001162	Postaxial hand polydactyly
OMIM:613885	TMEM231	79583	HP:0000568	Microphthalmia
OMIM:613885	TMEM231	79583	HP:0000337	Broad forehead
OMIM:613885	TMEM231	79583	HP:0003196	Short nose
OMIM:613885	TMEM231	79583	HP:0003270	Abdominal distention
OMIM:613885	TMEM231	79583	HP:0000470	Short neck
OMIM:187900	NBEAL2	23218	HP:0000421	Epistaxis
OMIM:187900	NBEAL2	23218	HP:0002239	Gastrointestinal hemorrhage
OMIM:187900	NBEAL2	23218	HP:0003828	Variable expressivity
OMIM:187900	NBEAL2	23218	HP:0001892	Abnormal bleeding
OMIM:187900	NBEAL2	23218	HP:0000978	Bruising susceptibility
OMIM:187900	NBEAL2	23218	HP:0011974	Myelofibrosis
OMIM:187900	NBEAL2	23218	HP:0000007	Autosomal recessive inheritance
OMIM:187900	NBEAL2	23218	HP:0001873	Thrombocytopenia
OMIM:187900	NBEAL2	23218	HP:0003010	Prolonged bleeding time
OMIM:187900	NBEAL2	23218	HP:0000006	Autosomal dominant inheritance
OMIM:187900	NBEAL2	23218	HP:0003593	Infantile onset
OMIM:187900	GFI1B	8328	HP:0000421	Epistaxis
OMIM:187900	GFI1B	8328	HP:0002239	Gastrointestinal hemorrhage
OMIM:187900	GFI1B	8328	HP:0003828	Variable expressivity
OMIM:187900	GFI1B	8328	HP:0001892	Abnormal bleeding
OMIM:187900	GFI1B	8328	HP:0000978	Bruising susceptibility
OMIM:187900	GFI1B	8328	HP:0011974	Myelofibrosis
OMIM:187900	GFI1B	8328	HP:0000007	Autosomal recessive inheritance
OMIM:187900	GFI1B	8328	HP:0001873	Thrombocytopenia
OMIM:187900	GFI1B	8328	HP:0003010	Prolonged bleeding time
OMIM:187900	GFI1B	8328	HP:0000006	Autosomal dominant inheritance
OMIM:187900	GFI1B	8328	HP:0003593	Infantile onset
OMIM:277170	OFD1	8481	HP:0001263	Global developmental delay
OMIM:277170	OFD1	8481	HP:0009466	Radial deviation of finger
OMIM:277170	OFD1	8481	HP:0000104	Renal agenesis
OMIM:277170	OFD1	8481	HP:0001320	Cerebellar vermis hypoplasia
OMIM:277170	OFD1	8481	HP:0000639	Nystagmus
OMIM:277170	OFD1	8481	HP:0000369	Low-set ears
OMIM:277170	OFD1	8481	HP:0000405	Conductive hearing impairment
OMIM:277170	OFD1	8481	HP:0030084	Clinodactyly
OMIM:277170	OFD1	8481	HP:0000565	Esotropia
OMIM:277170	OFD1	8481	HP:0100259	Postaxial polydactyly
OMIM:277170	OFD1	8481	HP:0000347	Micrognathia
OMIM:277170	OFD1	8481	HP:0000286	Epicanthus
OMIM:277170	OFD1	8481	HP:0000455	Broad nasal tip
OMIM:277170	OFD1	8481	HP:0004322	Short stature
OMIM:277170	OFD1	8481	HP:0000316	Hypertelorism
OMIM:277170	OFD1	8481	HP:0000110	Renal dysplasia
OMIM:277170	OFD1	8481	HP:0001177	Preaxial hand polydactyly
OMIM:277170	OFD1	8481	HP:0000204	Cleft upper lip
OMIM:277170	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:277170	OFD1	8481	HP:0001252	Muscular hypotonia
OMIM:277170	OFD1	8481	HP:0001841	Preaxial foot polydactyly
OMIM:277170	OFD1	8481	HP:0000218	High palate
OMIM:277170	OFD1	8481	HP:0002419	Molar tooth sign on MRI
OMIM:277170	OFD1	8481	HP:0001249	Intellectual disability
OMIM:277170	OFD1	8481	HP:0000175	Cleft palate
OMIM:277170	OFD1	8481	HP:0000358	Posteriorly rotated ears
OMIM:277170	OFD1	8481	HP:0001508	Failure to thrive
OMIM:277170	OFD1	8481	HP:0001770	Toe syndactyly
OMIM:277170	OFD1	8481	HP:0001156	Brachydactyly syndrome
OMIM:277170	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:277170	C5ORF42	65250	HP:0009466	Radial deviation of finger
OMIM:277170	C5ORF42	65250	HP:0000104	Renal agenesis
OMIM:277170	C5ORF42	65250	HP:0001320	Cerebellar vermis hypoplasia
OMIM:277170	C5ORF42	65250	HP:0000639	Nystagmus
OMIM:277170	C5ORF42	65250	HP:0000369	Low-set ears
OMIM:277170	C5ORF42	65250	HP:0000405	Conductive hearing impairment
OMIM:277170	C5ORF42	65250	HP:0030084	Clinodactyly
OMIM:277170	C5ORF42	65250	HP:0000565	Esotropia
OMIM:277170	C5ORF42	65250	HP:0100259	Postaxial polydactyly
OMIM:277170	C5ORF42	65250	HP:0000347	Micrognathia
OMIM:277170	C5ORF42	65250	HP:0000286	Epicanthus
OMIM:277170	C5ORF42	65250	HP:0000455	Broad nasal tip
OMIM:277170	C5ORF42	65250	HP:0004322	Short stature
OMIM:277170	C5ORF42	65250	HP:0000316	Hypertelorism
OMIM:277170	C5ORF42	65250	HP:0000110	Renal dysplasia
OMIM:277170	C5ORF42	65250	HP:0001177	Preaxial hand polydactyly
OMIM:277170	C5ORF42	65250	HP:0000204	Cleft upper lip
OMIM:277170	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:277170	C5ORF42	65250	HP:0001252	Muscular hypotonia
OMIM:277170	C5ORF42	65250	HP:0001841	Preaxial foot polydactyly
OMIM:277170	C5ORF42	65250	HP:0000218	High palate
OMIM:277170	C5ORF42	65250	HP:0002419	Molar tooth sign on MRI
OMIM:277170	C5ORF42	65250	HP:0001249	Intellectual disability
OMIM:277170	C5ORF42	65250	HP:0000175	Cleft palate
OMIM:277170	C5ORF42	65250	HP:0000358	Posteriorly rotated ears
OMIM:277170	C5ORF42	65250	HP:0001508	Failure to thrive
OMIM:277170	C5ORF42	65250	HP:0001770	Toe syndactyly
OMIM:277170	C5ORF42	65250	HP:0001156	Brachydactyly syndrome
OMIM:277170	TMEM216	51259	HP:0001263	Global developmental delay
OMIM:277170	TMEM216	51259	HP:0009466	Radial deviation of finger
OMIM:277170	TMEM216	51259	HP:0000104	Renal agenesis
OMIM:277170	TMEM216	51259	HP:0001320	Cerebellar vermis hypoplasia
OMIM:277170	TMEM216	51259	HP:0000639	Nystagmus
OMIM:277170	TMEM216	51259	HP:0000369	Low-set ears
OMIM:277170	TMEM216	51259	HP:0000405	Conductive hearing impairment
OMIM:277170	TMEM216	51259	HP:0030084	Clinodactyly
OMIM:277170	TMEM216	51259	HP:0000565	Esotropia
OMIM:277170	TMEM216	51259	HP:0100259	Postaxial polydactyly
OMIM:277170	TMEM216	51259	HP:0000347	Micrognathia
OMIM:277170	TMEM216	51259	HP:0000286	Epicanthus
OMIM:277170	TMEM216	51259	HP:0000455	Broad nasal tip
OMIM:277170	TMEM216	51259	HP:0004322	Short stature
OMIM:277170	TMEM216	51259	HP:0000316	Hypertelorism
OMIM:277170	TMEM216	51259	HP:0000110	Renal dysplasia
OMIM:277170	TMEM216	51259	HP:0001177	Preaxial hand polydactyly
OMIM:277170	TMEM216	51259	HP:0000204	Cleft upper lip
OMIM:277170	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:277170	TMEM216	51259	HP:0001252	Muscular hypotonia
OMIM:277170	TMEM216	51259	HP:0001841	Preaxial foot polydactyly
OMIM:277170	TMEM216	51259	HP:0000218	High palate
OMIM:277170	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
OMIM:277170	TMEM216	51259	HP:0001249	Intellectual disability
OMIM:277170	TMEM216	51259	HP:0000175	Cleft palate
OMIM:277170	TMEM216	51259	HP:0000358	Posteriorly rotated ears
OMIM:277170	TMEM216	51259	HP:0001508	Failure to thrive
OMIM:277170	TMEM216	51259	HP:0001770	Toe syndactyly
OMIM:277170	TMEM216	51259	HP:0001156	Brachydactyly syndrome
OMIM:277170	KIF7	374654	HP:0001263	Global developmental delay
OMIM:277170	KIF7	374654	HP:0009466	Radial deviation of finger
OMIM:277170	KIF7	374654	HP:0000104	Renal agenesis
OMIM:277170	KIF7	374654	HP:0001320	Cerebellar vermis hypoplasia
OMIM:277170	KIF7	374654	HP:0000639	Nystagmus
OMIM:277170	KIF7	374654	HP:0000369	Low-set ears
OMIM:277170	KIF7	374654	HP:0000405	Conductive hearing impairment
OMIM:277170	KIF7	374654	HP:0030084	Clinodactyly
OMIM:277170	KIF7	374654	HP:0000565	Esotropia
OMIM:277170	KIF7	374654	HP:0100259	Postaxial polydactyly
OMIM:277170	KIF7	374654	HP:0000347	Micrognathia
OMIM:277170	KIF7	374654	HP:0000286	Epicanthus
OMIM:277170	KIF7	374654	HP:0000455	Broad nasal tip
OMIM:277170	KIF7	374654	HP:0004322	Short stature
OMIM:277170	KIF7	374654	HP:0000316	Hypertelorism
OMIM:277170	KIF7	374654	HP:0000110	Renal dysplasia
OMIM:277170	KIF7	374654	HP:0001177	Preaxial hand polydactyly
OMIM:277170	KIF7	374654	HP:0000204	Cleft upper lip
OMIM:277170	KIF7	374654	HP:0000007	Autosomal recessive inheritance
OMIM:277170	KIF7	374654	HP:0001252	Muscular hypotonia
OMIM:277170	KIF7	374654	HP:0001841	Preaxial foot polydactyly
OMIM:277170	KIF7	374654	HP:0000218	High palate
OMIM:277170	KIF7	374654	HP:0002419	Molar tooth sign on MRI
OMIM:277170	KIF7	374654	HP:0001249	Intellectual disability
OMIM:277170	KIF7	374654	HP:0000175	Cleft palate
OMIM:277170	KIF7	374654	HP:0000358	Posteriorly rotated ears
OMIM:277170	KIF7	374654	HP:0001508	Failure to thrive
OMIM:277170	KIF7	374654	HP:0001770	Toe syndactyly
OMIM:277170	KIF7	374654	HP:0001156	Brachydactyly syndrome
OMIM:277170	TCTN3	26123	HP:0001263	Global developmental delay
OMIM:277170	TCTN3	26123	HP:0009466	Radial deviation of finger
OMIM:277170	TCTN3	26123	HP:0000104	Renal agenesis
OMIM:277170	TCTN3	26123	HP:0001320	Cerebellar vermis hypoplasia
OMIM:277170	TCTN3	26123	HP:0000639	Nystagmus
OMIM:277170	TCTN3	26123	HP:0000369	Low-set ears
OMIM:277170	TCTN3	26123	HP:0000405	Conductive hearing impairment
OMIM:277170	TCTN3	26123	HP:0030084	Clinodactyly
OMIM:277170	TCTN3	26123	HP:0000565	Esotropia
OMIM:277170	TCTN3	26123	HP:0100259	Postaxial polydactyly
OMIM:277170	TCTN3	26123	HP:0000347	Micrognathia
OMIM:277170	TCTN3	26123	HP:0000286	Epicanthus
OMIM:277170	TCTN3	26123	HP:0000455	Broad nasal tip
OMIM:277170	TCTN3	26123	HP:0004322	Short stature
OMIM:277170	TCTN3	26123	HP:0000316	Hypertelorism
OMIM:277170	TCTN3	26123	HP:0000110	Renal dysplasia
OMIM:277170	TCTN3	26123	HP:0001177	Preaxial hand polydactyly
OMIM:277170	TCTN3	26123	HP:0000204	Cleft upper lip
OMIM:277170	TCTN3	26123	HP:0000007	Autosomal recessive inheritance
OMIM:277170	TCTN3	26123	HP:0001252	Muscular hypotonia
OMIM:277170	TCTN3	26123	HP:0001841	Preaxial foot polydactyly
OMIM:277170	TCTN3	26123	HP:0000218	High palate
OMIM:277170	TCTN3	26123	HP:0002419	Molar tooth sign on MRI
OMIM:277170	TCTN3	26123	HP:0001249	Intellectual disability
OMIM:277170	TCTN3	26123	HP:0000175	Cleft palate
OMIM:277170	TCTN3	26123	HP:0000358	Posteriorly rotated ears
OMIM:277170	TCTN3	26123	HP:0001508	Failure to thrive
OMIM:277170	TCTN3	26123	HP:0001770	Toe syndactyly
OMIM:277170	TCTN3	26123	HP:0001156	Brachydactyly syndrome
OMIM:277170	PDE6D	5147	HP:0001263	Global developmental delay
OMIM:277170	PDE6D	5147	HP:0009466	Radial deviation of finger
OMIM:277170	PDE6D	5147	HP:0000104	Renal agenesis
OMIM:277170	PDE6D	5147	HP:0001320	Cerebellar vermis hypoplasia
OMIM:277170	PDE6D	5147	HP:0000639	Nystagmus
OMIM:277170	PDE6D	5147	HP:0000369	Low-set ears
OMIM:277170	PDE6D	5147	HP:0000405	Conductive hearing impairment
OMIM:277170	PDE6D	5147	HP:0030084	Clinodactyly
OMIM:277170	PDE6D	5147	HP:0000565	Esotropia
OMIM:277170	PDE6D	5147	HP:0100259	Postaxial polydactyly
OMIM:277170	PDE6D	5147	HP:0000347	Micrognathia
OMIM:277170	PDE6D	5147	HP:0000286	Epicanthus
OMIM:277170	PDE6D	5147	HP:0000455	Broad nasal tip
OMIM:277170	PDE6D	5147	HP:0004322	Short stature
OMIM:277170	PDE6D	5147	HP:0000316	Hypertelorism
OMIM:277170	PDE6D	5147	HP:0000110	Renal dysplasia
OMIM:277170	PDE6D	5147	HP:0001177	Preaxial hand polydactyly
OMIM:277170	PDE6D	5147	HP:0000204	Cleft upper lip
OMIM:277170	PDE6D	5147	HP:0000007	Autosomal recessive inheritance
OMIM:277170	PDE6D	5147	HP:0001252	Muscular hypotonia
OMIM:277170	PDE6D	5147	HP:0001841	Preaxial foot polydactyly
OMIM:277170	PDE6D	5147	HP:0000218	High palate
OMIM:277170	PDE6D	5147	HP:0002419	Molar tooth sign on MRI
OMIM:277170	PDE6D	5147	HP:0001249	Intellectual disability
OMIM:277170	PDE6D	5147	HP:0000175	Cleft palate
OMIM:277170	PDE6D	5147	HP:0000358	Posteriorly rotated ears
OMIM:277170	PDE6D	5147	HP:0001508	Failure to thrive
OMIM:277170	PDE6D	5147	HP:0001770	Toe syndactyly
OMIM:277170	PDE6D	5147	HP:0001156	Brachydactyly syndrome
OMIM:600175	TRPV4	59341	HP:0007269	Spinal muscular atrophy
OMIM:600175	TRPV4	59341	HP:0003236	Elevated serum creatine phosphokinase
OMIM:600175	TRPV4	59341	HP:0004325	Decreased body weight
OMIM:600175	TRPV4	59341	HP:0001376	Limitation of joint mobility
OMIM:600175	TRPV4	59341	HP:0003829	Incomplete penetrance
OMIM:600175	TRPV4	59341	HP:0002808	Kyphosis
OMIM:600175	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:600175	TRPV4	59341	HP:0001265	Hyporeflexia
OMIM:600175	TRPV4	59341	HP:0003680	Nonprogressive
OMIM:600175	TRPV4	59341	HP:0001558	Decreased fetal movement
OMIM:600175	TRPV4	59341	HP:0002650	Scoliosis
OMIM:600175	TRPV4	59341	HP:0002987	Elbow flexion contracture
OMIM:600175	TRPV4	59341	HP:0001762	Talipes equinovarus
OMIM:600175	TRPV4	59341	HP:0001252	Muscular hypotonia
OMIM:600175	TRPV4	59341	HP:0003307	Hyperlordosis
OMIM:600175	TRPV4	59341	HP:0002804	Arthrogryposis multiplex congenita
OMIM:600175	TRPV4	59341	HP:0001763	Pes planus
OMIM:600175	TRPV4	59341	HP:0003693	Distal amyotrophy
OMIM:600175	TRPV4	59341	HP:0006380	Knee flexion contracture
OMIM:600175	TRPV4	59341	HP:0001284	Areflexia
OMIM:600175	TRPV4	59341	HP:0003273	Hip contracture
OMIM:600175	TRPV4	59341	HP:0003828	Variable expressivity
OMIM:600175	TRPV4	59341	HP:0002460	Distal muscle weakness
OMIM:610759	SMC1A	8243	HP:0000218	High palate
OMIM:610759	SMC1A	8243	HP:0001773	Short foot
OMIM:610759	SMC1A	8243	HP:0002020	Gastroesophageal reflux
OMIM:610759	SMC1A	8243	HP:0000233	Thin vermilion border
OMIM:610759	SMC1A	8243	HP:0000664	Synophrys
OMIM:610759	SMC1A	8243	HP:0001007	Hirsutism
OMIM:610759	SMC1A	8243	HP:0001249	Intellectual disability
OMIM:610759	SMC1A	8243	HP:0000545	Myopia
OMIM:610759	SMC1A	8243	HP:0008872	Feeding difficulties in infancy
OMIM:610759	SMC1A	8243	HP:0001263	Global developmental delay
OMIM:610759	SMC1A	8243	HP:0009623	Proximal placement of thumb
OMIM:610759	SMC1A	8243	HP:0000527	Long eyelashes
OMIM:610759	SMC1A	8243	HP:0004209	Clinodactyly of the 5th finger
OMIM:610759	SMC1A	8243	HP:0200055	Small hand
OMIM:610759	SMC1A	8243	HP:0002553	Highly arched eyebrow
OMIM:610759	SMC1A	8243	HP:0002996	Limited elbow movement
OMIM:610759	SMC1A	8243	HP:0000426	Prominent nasal bridge
OMIM:610759	SMC1A	8243	HP:0004322	Short stature
OMIM:610759	SMC3	9126	HP:0000218	High palate
OMIM:610759	SMC3	9126	HP:0001773	Short foot
OMIM:610759	SMC3	9126	HP:0002020	Gastroesophageal reflux
OMIM:610759	SMC3	9126	HP:0000233	Thin vermilion border
OMIM:610759	SMC3	9126	HP:0000664	Synophrys
OMIM:610759	SMC3	9126	HP:0001007	Hirsutism
OMIM:610759	SMC3	9126	HP:0001249	Intellectual disability
OMIM:610759	SMC3	9126	HP:0000545	Myopia
OMIM:610759	SMC3	9126	HP:0008872	Feeding difficulties in infancy
OMIM:610759	SMC3	9126	HP:0001263	Global developmental delay
OMIM:610759	SMC3	9126	HP:0009623	Proximal placement of thumb
OMIM:610759	SMC3	9126	HP:0000527	Long eyelashes
OMIM:610759	SMC3	9126	HP:0004209	Clinodactyly of the 5th finger
OMIM:610759	SMC3	9126	HP:0200055	Small hand
OMIM:610759	SMC3	9126	HP:0002553	Highly arched eyebrow
OMIM:610759	SMC3	9126	HP:0002996	Limited elbow movement
OMIM:610759	SMC3	9126	HP:0000426	Prominent nasal bridge
OMIM:610759	SMC3	9126	HP:0004322	Short stature
OMIM:610759	NIPBL	25836	HP:0000218	High palate
OMIM:610759	NIPBL	25836	HP:0001773	Short foot
OMIM:610759	NIPBL	25836	HP:0002020	Gastroesophageal reflux
OMIM:610759	NIPBL	25836	HP:0000233	Thin vermilion border
OMIM:610759	NIPBL	25836	HP:0000664	Synophrys
OMIM:610759	NIPBL	25836	HP:0001007	Hirsutism
OMIM:610759	NIPBL	25836	HP:0001249	Intellectual disability
OMIM:610759	NIPBL	25836	HP:0000545	Myopia
OMIM:610759	NIPBL	25836	HP:0008872	Feeding difficulties in infancy
OMIM:610759	NIPBL	25836	HP:0001263	Global developmental delay
OMIM:610759	NIPBL	25836	HP:0009623	Proximal placement of thumb
OMIM:610759	NIPBL	25836	HP:0000527	Long eyelashes
OMIM:610759	NIPBL	25836	HP:0004209	Clinodactyly of the 5th finger
OMIM:610759	NIPBL	25836	HP:0200055	Small hand
OMIM:610759	NIPBL	25836	HP:0002553	Highly arched eyebrow
OMIM:610759	NIPBL	25836	HP:0002996	Limited elbow movement
OMIM:610759	NIPBL	25836	HP:0000426	Prominent nasal bridge
OMIM:610759	NIPBL	25836	HP:0004322	Short stature
OMIM:610759	HDAC8	55869	HP:0000218	High palate
OMIM:610759	HDAC8	55869	HP:0001773	Short foot
OMIM:610759	HDAC8	55869	HP:0002020	Gastroesophageal reflux
OMIM:610759	HDAC8	55869	HP:0000233	Thin vermilion border
OMIM:610759	HDAC8	55869	HP:0000664	Synophrys
OMIM:610759	HDAC8	55869	HP:0001007	Hirsutism
OMIM:610759	HDAC8	55869	HP:0001249	Intellectual disability
OMIM:610759	HDAC8	55869	HP:0000545	Myopia
OMIM:610759	HDAC8	55869	HP:0008872	Feeding difficulties in infancy
OMIM:610759	HDAC8	55869	HP:0001263	Global developmental delay
OMIM:610759	HDAC8	55869	HP:0009623	Proximal placement of thumb
OMIM:610759	HDAC8	55869	HP:0000527	Long eyelashes
OMIM:610759	HDAC8	55869	HP:0004209	Clinodactyly of the 5th finger
OMIM:610759	HDAC8	55869	HP:0200055	Small hand
OMIM:610759	HDAC8	55869	HP:0002553	Highly arched eyebrow
OMIM:610759	HDAC8	55869	HP:0002996	Limited elbow movement
OMIM:610759	HDAC8	55869	HP:0000426	Prominent nasal bridge
OMIM:610759	HDAC8	55869	HP:0004322	Short stature
OMIM:610759	RAD21	5885	HP:0000218	High palate
OMIM:610759	RAD21	5885	HP:0001773	Short foot
OMIM:610759	RAD21	5885	HP:0002020	Gastroesophageal reflux
OMIM:610759	RAD21	5885	HP:0000233	Thin vermilion border
OMIM:610759	RAD21	5885	HP:0000664	Synophrys
OMIM:610759	RAD21	5885	HP:0001007	Hirsutism
OMIM:610759	RAD21	5885	HP:0001249	Intellectual disability
OMIM:610759	RAD21	5885	HP:0000545	Myopia
OMIM:610759	RAD21	5885	HP:0008872	Feeding difficulties in infancy
OMIM:610759	RAD21	5885	HP:0001263	Global developmental delay
OMIM:610759	RAD21	5885	HP:0009623	Proximal placement of thumb
OMIM:610759	RAD21	5885	HP:0000527	Long eyelashes
OMIM:610759	RAD21	5885	HP:0004209	Clinodactyly of the 5th finger
OMIM:610759	RAD21	5885	HP:0200055	Small hand
OMIM:610759	RAD21	5885	HP:0002553	Highly arched eyebrow
OMIM:610759	RAD21	5885	HP:0002996	Limited elbow movement
OMIM:610759	RAD21	5885	HP:0000426	Prominent nasal bridge
OMIM:610759	RAD21	5885	HP:0004322	Short stature
OMIM:606408	TNXB	7148	HP:0001373	Joint dislocation
OMIM:606408	TNXB	7148	HP:0000974	Hyperextensible skin
OMIM:606408	TNXB	7148	HP:0000978	Bruising susceptibility
OMIM:606408	TNXB	7148	HP:0002637	Cerebral ischemia
OMIM:606408	TNXB	7148	HP:0011675	Arrhythmia
OMIM:606408	TNXB	7148	HP:0002829	Arthralgia
OMIM:606408	TNXB	7148	HP:0000963	Thin skin
OMIM:606408	TNXB	7148	HP:0000813	Bicornuate uterus
OMIM:606408	TNXB	7148	HP:0000007	Autosomal recessive inheritance
OMIM:606408	TNXB	7148	HP:0001382	Joint hypermobility
OMIM:606408	TNXB	7148	HP:0000977	Soft skin
OMIM:606408	TNXB	7148	HP:0000076	Vesicoureteral reflux
OMIM:606408	TNXB	7148	HP:0002621	Atherosclerosis
OMIM:606408	TNXB	7148	HP:0007126	Proximal amyotrophy
OMIM:606408	TNXB	7148	HP:0001252	Muscular hypotonia
OMIM:606408	TNXB	7148	HP:0003202	Skeletal muscle atrophy
OMIM:606408	TNXB	7148	HP:0003298	Spina bifida occulta
OMIM:606408	TNXB	7148	HP:0003701	Proximal muscle weakness
OMIM:606408	TNXB	7148	HP:0001324	Muscle weakness
OMIM:606408	TNXB	7148	HP:0009025	Increased connective tissue
OMIM:606408	TNXB	7148	HP:0009830	Peripheral neuropathy
OMIM:606408	TNXB	7148	HP:0002239	Gastrointestinal hemorrhage
OMIM:606408	TNXB	7148	HP:0001633	Abnormality of the mitral valve
OMIM:606408	TNXB	7148	HP:0001634	Mitral valve prolapse
OMIM:606408	TNXB	7148	HP:0001578	Hypercortisolism
OMIM:606408	TNXB	7148	HP:0003326	Myalgia
OMIM:260660	TBX15	6913	HP:0004691	2-3 toe syndactyly
OMIM:260660	TBX15	6913	HP:0012385	Camptodactyly
OMIM:260660	TBX15	6913	HP:0000175	Cleft palate
OMIM:260660	TBX15	6913	HP:0003083	Dislocated radial head
OMIM:260660	TBX15	6913	HP:0004209	Clinodactyly of the 5th finger
OMIM:260660	TBX15	6913	HP:0000882	Hypoplastic scapulae
OMIM:260660	TBX15	6913	HP:0004692	4-5 toe syndactyly
OMIM:260660	TBX15	6913	HP:0008905	Rhizomelia
OMIM:260660	TBX15	6913	HP:0000007	Autosomal recessive inheritance
OMIM:260660	TBX15	6913	HP:0000171	Microglossia
OMIM:260660	TBX15	6913	HP:0000482	Microcornea
OMIM:260660	TBX15	6913	HP:0003173	Hypoplastic pubic bone
OMIM:260660	TBX15	6913	HP:0001591	Bell-shaped thorax
OMIM:260660	TBX15	6913	HP:0000568	Microphthalmia
OMIM:260660	TBX15	6913	HP:0000126	Hydronephrosis
OMIM:260660	TBX15	6913	HP:0000347	Micrognathia
OMIM:260660	TBX15	6913	HP:0001770	Toe syndactyly
OMIM:260660	TBX15	6913	HP:0001762	Talipes equinovarus
OMIM:260660	TBX15	6913	HP:0000238	Hydrocephalus
OMIM:260660	TBX15	6913	HP:0000581	Blepharophimosis
OMIM:260660	TBX15	6913	HP:0001999	Abnormal facial shape
OMIM:260660	TBX15	6913	HP:0003175	Hypoplastic ischia
OMIM:260660	TBX15	6913	HP:0002324	Hydranencephaly
OMIM:260660	TBX15	6913	HP:0009473	Joint contracture of the hand
OMIM:260660	TBX15	6913	HP:0012745	Short palpebral fissure
OMIM:176960	PRKCA	5578	HP:0001428	Somatic mutation
OMIM:176960	PRKCA	5578	HP:0011750	Neoplasm of the anterior pituitary
OMIM:300299	WAS	7454	HP:0004313	Decreased antibody level in blood
OMIM:300299	WAS	7454	HP:0002718	Recurrent bacterial infections
OMIM:300299	WAS	7454	HP:0001874	Abnormality of neutrophils
OMIM:300299	WAS	7454	HP:0000951	Abnormality of the skin
OMIM:300299	WAS	7454	HP:0001419	X-linked recessive inheritance
OMIM:608233	AP3B1	8546	HP:0001107	Ocular albinism
OMIM:608233	AP3B1	8546	HP:0001022	Albinism
OMIM:608233	AP3B1	8546	HP:0000358	Posteriorly rotated ears
OMIM:608233	AP3B1	8546	HP:0000639	Nystagmus
OMIM:608233	AP3B1	8546	HP:0001385	Hip dysplasia
OMIM:608233	AP3B1	8546	HP:0000219	Thin upper lip vermilion
OMIM:608233	AP3B1	8546	HP:0003577	Congenital onset
OMIM:608233	AP3B1	8546	HP:0001270	Motor delay
OMIM:608233	AP3B1	8546	HP:0001744	Splenomegaly
OMIM:608233	AP3B1	8546	HP:0000343	Long philtrum
OMIM:608233	AP3B1	8546	HP:0008807	Acetabular dysplasia
OMIM:608233	AP3B1	8546	HP:0001256	Intellectual disability, mild
OMIM:608233	AP3B1	8546	HP:0001875	Neutropenia
OMIM:608233	AP3B1	8546	HP:0002206	Pulmonary fibrosis
OMIM:608233	AP3B1	8546	HP:0000319	Smooth philtrum
OMIM:608233	AP3B1	8546	HP:0000486	Strabismus
OMIM:608233	AP3B1	8546	HP:0000007	Autosomal recessive inheritance
OMIM:608233	AP3B1	8546	HP:0000280	Coarse facial features
OMIM:608233	AP3B1	8546	HP:0000582	Upslanted palpebral fissure
OMIM:608233	AP3B1	8546	HP:0000613	Photophobia
OMIM:608233	AP3B1	8546	HP:0002240	Hepatomegaly
OMIM:608233	AP3B1	8546	HP:0000431	Wide nasal bridge
OMIM:608233	AP3B1	8546	HP:0000704	Periodontitis
OMIM:608233	AP3B1	8546	HP:0001873	Thrombocytopenia
OMIM:608233	AP3B1	8546	HP:0000505	Visual impairment
OMIM:608233	AP3B1	8546	HP:0000369	Low-set ears
OMIM:608233	AP3B1	8546	HP:0002718	Recurrent bacterial infections
OMIM:608233	AP3B1	8546	HP:0007663	Reduced visual acuity
OMIM:608233	AP3B1	8546	HP:0000670	Carious teeth
OMIM:608233	AP3B1	8546	HP:0000252	Microcephaly
OMIM:137920	HNF1B	6928	HP:0001080	Biliary tract abnormality
OMIM:137920	HNF1B	6928	HP:0000013	Hypoplasia of the uterus
OMIM:137920	HNF1B	6928	HP:0000093	Proteinuria
OMIM:137920	HNF1B	6928	HP:0003774	Stage 5 chronic kidney disease
OMIM:137920	HNF1B	6928	HP:0000833	Glucose intolerance
OMIM:137920	HNF1B	6928	HP:0002910	Elevated hepatic transaminases
OMIM:137920	HNF1B	6928	HP:0000107	Renal cyst
OMIM:137920	HNF1B	6928	HP:0003812	Phenotypic variability
OMIM:137920	HNF1B	6928	HP:0003674	Onset
OMIM:137920	HNF1B	6928	HP:0000122	Unilateral renal agenesis
OMIM:137920	HNF1B	6928	HP:0000006	Autosomal dominant inheritance
OMIM:137920	HNF1B	6928	HP:0003259	Elevated serum creatinine
OMIM:137920	HNF1B	6928	HP:0000047	Hypospadias
OMIM:137920	HNF1B	6928	HP:0000813	Bicornuate uterus
OMIM:137920	HNF1B	6928	HP:0000089	Renal hypoplasia
OMIM:137920	HNF1B	6928	HP:0002120	Cerebral cortical atrophy
OMIM:137920	HNF1B	6928	HP:0000787	Nephrolithiasis
OMIM:137920	HNF4A	3172	HP:0001080	Biliary tract abnormality
OMIM:137920	HNF4A	3172	HP:0000013	Hypoplasia of the uterus
OMIM:137920	HNF4A	3172	HP:0000093	Proteinuria
OMIM:137920	HNF4A	3172	HP:0003774	Stage 5 chronic kidney disease
OMIM:137920	HNF4A	3172	HP:0000833	Glucose intolerance
OMIM:137920	HNF4A	3172	HP:0002910	Elevated hepatic transaminases
OMIM:137920	HNF4A	3172	HP:0000107	Renal cyst
OMIM:137920	HNF4A	3172	HP:0003812	Phenotypic variability
OMIM:137920	HNF4A	3172	HP:0003674	Onset
OMIM:137920	HNF4A	3172	HP:0000122	Unilateral renal agenesis
OMIM:137920	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:137920	HNF4A	3172	HP:0003259	Elevated serum creatinine
OMIM:137920	HNF4A	3172	HP:0000047	Hypospadias
OMIM:137920	HNF4A	3172	HP:0000813	Bicornuate uterus
OMIM:137920	HNF4A	3172	HP:0000089	Renal hypoplasia
OMIM:137920	HNF4A	3172	HP:0002120	Cerebral cortical atrophy
OMIM:137920	HNF4A	3172	HP:0000787	Nephrolithiasis
OMIM:159000	MYOT	9499	HP:0001265	Hyporeflexia
OMIM:159000	MYOT	9499	HP:0003560	Muscular dystrophy
OMIM:159000	MYOT	9499	HP:0003236	Elevated serum creatine phosphokinase
OMIM:159000	MYOT	9499	HP:0003677	Slow progression
OMIM:159000	MYOT	9499	HP:0003805	Rimmed vacuoles
OMIM:159000	MYOT	9499	HP:0003547	Shoulder girdle muscle weakness
OMIM:159000	MYOT	9499	HP:0003581	Adult onset
OMIM:159000	MYOT	9499	HP:0003458	EMG: myopathic abnormalities
OMIM:159000	MYOT	9499	HP:0000006	Autosomal dominant inheritance
OMIM:159000	MYOT	9499	HP:0001425	Heterogeneous
OMIM:159000	MYOT	9499	HP:0003749	Pelvic girdle muscle weakness
OMIM:159000	MYOT	9499	HP:0001771	Achilles tendon contracture
OMIM:159000	MYOT	9499	HP:0003810	Late-onset distal muscle weakness
OMIM:181400	DES	1674	HP:0001762	Talipes equinovarus
OMIM:181400	DES	1674	HP:0009027	Foot dorsiflexor weakness
OMIM:181400	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:181400	DES	1674	HP:0003724	Shoulder girdle muscle atrophy
OMIM:181400	DES	1674	HP:0009049	Peroneal muscle atrophy
OMIM:614388	DNM1L	10059	HP:0011968	Feeding difficulties
OMIM:614388	DNM1L	10059	HP:0000490	Deeply set eye
OMIM:614388	DNM1L	10059	HP:0001252	Muscular hypotonia
OMIM:614388	DNM1L	10059	HP:0000252	Microcephaly
OMIM:614388	DNM1L	10059	HP:0001298	Encephalopathy
OMIM:614388	DNM1L	10059	HP:0001522	Death in infancy
OMIM:614388	DNM1L	10059	HP:0001284	Areflexia
OMIM:614388	DNM1L	10059	HP:0003128	Lactic acidosis
OMIM:614388	DNM1L	10059	HP:0000006	Autosomal dominant inheritance
OMIM:614388	DNM1L	10059	HP:0001508	Failure to thrive
OMIM:614388	DNM1L	10059	HP:0001558	Decreased fetal movement
OMIM:614388	DNM1L	10059	HP:0000648	Optic atrophy
OMIM:614388	DNM1L	10059	HP:0000307	Pointed chin
OMIM:615412	TUBG1	7283	HP:0001250	Seizures
OMIM:615412	TUBG1	7283	HP:0000518	Cataract
OMIM:615412	TUBG1	7283	HP:0002539	Cortical dysplasia
OMIM:615412	TUBG1	7283	HP:0003828	Variable expressivity
OMIM:615412	TUBG1	7283	HP:0000006	Autosomal dominant inheritance
OMIM:615412	TUBG1	7283	HP:0000252	Microcephaly
OMIM:615412	TUBG1	7283	HP:0002510	Spastic tetraplegia
OMIM:615412	TUBG1	7283	HP:0001263	Global developmental delay
OMIM:607454	TMEM240	339453	HP:0002070	Limb ataxia
OMIM:607454	TMEM240	339453	HP:0001249	Intellectual disability
OMIM:607454	TMEM240	339453	HP:0001300	Parkinsonism
OMIM:607454	TMEM240	339453	HP:0002066	Gait ataxia
OMIM:607454	TMEM240	339453	HP:0001265	Hyporeflexia
OMIM:607454	TMEM240	339453	HP:0003677	Slow progression
OMIM:607454	TMEM240	339453	HP:0000006	Autosomal dominant inheritance
OMIM:607454	TMEM240	339453	HP:0100543	Cognitive impairment
OMIM:607454	TMEM240	339453	HP:0000718	Aggressive behavior
OMIM:607454	TMEM240	339453	HP:0001272	Cerebellar atrophy
OMIM:607454	TMEM240	339453	HP:0001263	Global developmental delay
OMIM:607454	TMEM240	339453	HP:0001260	Dysarthria
OMIM:607454	TMEM240	339453	HP:0000639	Nystagmus
OMIM:607454	TMEM240	339453	HP:0000741	Apathy
OMIM:603563	KIAA0196	9897	HP:0000012	Urinary urgency
OMIM:603563	KIAA0196	9897	HP:0000020	Urinary incontinence
OMIM:603563	KIAA0196	9897	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:603563	KIAA0196	9897	HP:0001761	Pes cavus
OMIM:603563	KIAA0196	9897	HP:0003581	Adult onset
OMIM:603563	KIAA0196	9897	HP:0002061	Lower limb spasticity
OMIM:603563	KIAA0196	9897	HP:0003676	Progressive
OMIM:603563	KIAA0196	9897	HP:0003487	Babinski sign
OMIM:603563	KIAA0196	9897	HP:0001258	Spastic paraplegia
OMIM:603563	KIAA0196	9897	HP:0007340	Lower limb muscle weakness
OMIM:603563	KIAA0196	9897	HP:0000006	Autosomal dominant inheritance
OMIM:603563	KIAA0196	9897	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:603563	KIAA0196	9897	HP:0001347	Hyperreflexia
OMIM:603563	KIAA0196	9897	HP:0006986	Upper limb spasticity
OMIM:603563	KIAA0196	9897	HP:0002064	Spastic gait
OMIM:603563	KIAA0196	9897	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:616052	ISPD	729920	HP:0006785	Limb-girdle muscular dystrophy
OMIM:616052	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616052	ISPD	729920	HP:0000158	Macroglossia
OMIM:616052	ISPD	729920	HP:0003691	Scapular winging
OMIM:616052	ISPD	729920	HP:0008981	Calf muscle hypertrophy
OMIM:255960	PRKAR1A	5573	HP:0000007	Autosomal recessive inheritance
OMIM:122560	CRH	1392	HP:0001943	Hypoglycemia
OMIM:122560	CRH	1392	HP:0001274	Agenesis of corpus callosum
OMIM:122560	CRH	1392	HP:0001250	Seizures
OMIM:122560	CRH	1392	HP:0001438	Abnormality of the abdomen
OMIM:122560	CRH	1392	HP:0000846	Adrenal insufficiency
OMIM:122560	CRH	1392	HP:0001999	Abnormal facial shape
OMIM:122560	CRH	1392	HP:0000007	Autosomal recessive inheritance
ORPHANET:6	MCCC2	64087	HP:0100022	Abnormality of movement
ORPHANET:6	MCCC2	64087	HP:0100659	Abnormality of the cerebral vasculature
ORPHANET:6	MCCC2	64087	HP:0001943	Hypoglycemia
ORPHANET:6	MCCC2	64087	HP:0002093	Respiratory insufficiency
ORPHANET:6	MCCC2	64087	HP:0001252	Muscular hypotonia
ORPHANET:6	MCCC2	64087	HP:0001276	Hypertonia
ORPHANET:6	MCCC2	64087	HP:0001987	Hyperammonemia
ORPHANET:6	MCCC1	56922	HP:0100022	Abnormality of movement
ORPHANET:6	MCCC1	56922	HP:0100659	Abnormality of the cerebral vasculature
ORPHANET:6	MCCC1	56922	HP:0001943	Hypoglycemia
ORPHANET:6	MCCC1	56922	HP:0002093	Respiratory insufficiency
ORPHANET:6	MCCC1	56922	HP:0001252	Muscular hypotonia
ORPHANET:6	MCCC1	56922	HP:0001276	Hypertonia
ORPHANET:6	MCCC1	56922	HP:0001987	Hyperammonemia
OMIM:186200	SHH	6469	HP:0001161	Hand polydactyly
OMIM:186200	SHH	6469	HP:0001376	Limitation of joint mobility
OMIM:186200	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:186200	SHH	6469	HP:0001199	Triphalangeal thumb
OMIM:186200	SHH	6469	HP:0001770	Toe syndactyly
OMIM:186200	SHH	6469	HP:0006101	Finger syndactyly
OMIM:186200	SHH	6469	HP:0004691	2-3 toe syndactyly
OMIM:186200	SHH	6469	HP:0100490	Camptodactyly of finger
OMIM:186200	SHH	6469	HP:0001829	Foot polydactyly
OMIM:186200	SHH	6469	HP:0010442	Polydactyly
OMIM:186200	SHH	6469	HP:0001163	Abnormality of the metacarpal bones
OMIM:186200	SHH	6469	HP:0002992	Abnormality of the tibia
OMIM:186200	LMBR1	64327	HP:0001161	Hand polydactyly
OMIM:186200	LMBR1	64327	HP:0001376	Limitation of joint mobility
OMIM:186200	LMBR1	64327	HP:0000006	Autosomal dominant inheritance
OMIM:186200	LMBR1	64327	HP:0001199	Triphalangeal thumb
OMIM:186200	LMBR1	64327	HP:0001770	Toe syndactyly
OMIM:186200	LMBR1	64327	HP:0006101	Finger syndactyly
OMIM:186200	LMBR1	64327	HP:0004691	2-3 toe syndactyly
OMIM:186200	LMBR1	64327	HP:0100490	Camptodactyly of finger
OMIM:186200	LMBR1	64327	HP:0001829	Foot polydactyly
OMIM:186200	LMBR1	64327	HP:0010442	Polydactyly
OMIM:186200	LMBR1	64327	HP:0001163	Abnormality of the metacarpal bones
OMIM:186200	LMBR1	64327	HP:0002992	Abnormality of the tibia
OMIM:278740	DDB2	1643	HP:0000509	Conjunctivitis
OMIM:278740	DDB2	1643	HP:0004334	Dermal atrophy
OMIM:278740	DDB2	1643	HP:0000992	Cutaneous photosensitivity
OMIM:278740	DDB2	1643	HP:0002861	Melanoma
OMIM:278740	DDB2	1643	HP:0000491	Keratitis
OMIM:278740	DDB2	1643	HP:0001009	Telangiectasia
OMIM:278740	DDB2	1643	HP:0000007	Autosomal recessive inheritance
OMIM:278740	DDB2	1643	HP:0000613	Photophobia
OMIM:307700	GCM2	9247	HP:0011675	Arrhythmia
OMIM:307700	GCM2	9247	HP:0002514	Cerebral calcification
OMIM:307700	GCM2	9247	HP:0000829	Hypoparathyroidism
OMIM:307700	GCM2	9247	HP:0001250	Seizures
OMIM:307700	GCM2	9247	HP:0000518	Cataract
OMIM:307700	GCM2	9247	HP:0001417	X-linked inheritance
OMIM:307700	GCM2	9247	HP:0002901	Hypocalcemia
OMIM:307700	GCM2	9247	HP:0000684	Delayed eruption of teeth
OMIM:307700	GCM2	9247	HP:0000464	Abnormality of the neck
OMIM:307700	GCM2	9247	HP:0001281	Tetany
OMIM:307700	GCM2	9247	HP:0100530	Abnormality of calcium-phosphate metabolism
OMIM:307700	GCM2	9247	HP:0004322	Short stature
OMIM:307700	GCM2	9247	HP:0000682	Abnormality of dental enamel
OMIM:615280	BRAF	673	HP:0004322	Short stature
OMIM:615280	BRAF	673	HP:0000639	Nystagmus
OMIM:615280	BRAF	673	HP:0000975	Hyperhidrosis
OMIM:615280	BRAF	673	HP:0000486	Strabismus
OMIM:615280	BRAF	673	HP:0001252	Muscular hypotonia
OMIM:615280	BRAF	673	HP:0030047	Abnormality of lateral ventricle
OMIM:615280	BRAF	673	HP:0000519	Congenital cataract
OMIM:615280	BRAF	673	HP:0002650	Scoliosis
OMIM:615280	BRAF	673	HP:0000348	High forehead
OMIM:615280	BRAF	673	HP:0000506	Telecanthus
OMIM:615280	BRAF	673	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615280	BRAF	673	HP:0000974	Hyperextensible skin
OMIM:615280	BRAF	673	HP:0001321	Cerebellar hypoplasia
OMIM:615280	BRAF	673	HP:0000609	Optic nerve hypoplasia
OMIM:615280	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:615280	BRAF	673	HP:0000341	Narrow forehead
OMIM:615280	BRAF	673	HP:0000545	Myopia
OMIM:615280	BRAF	673	HP:0000766	Abnormality of the sternum
OMIM:615280	BRAF	673	HP:0001646	Abnormality of the aortic valve
OMIM:615280	BRAF	673	HP:0001263	Global developmental delay
OMIM:615280	BRAF	673	HP:0010438	Abnormality of the ventricular septum
OMIM:615280	MAP2K1	5604	HP:0004322	Short stature
OMIM:615280	MAP2K1	5604	HP:0000639	Nystagmus
OMIM:615280	MAP2K1	5604	HP:0000975	Hyperhidrosis
OMIM:615280	MAP2K1	5604	HP:0000486	Strabismus
OMIM:615280	MAP2K1	5604	HP:0001252	Muscular hypotonia
OMIM:615280	MAP2K1	5604	HP:0030047	Abnormality of lateral ventricle
OMIM:615280	MAP2K1	5604	HP:0000519	Congenital cataract
OMIM:615280	MAP2K1	5604	HP:0002650	Scoliosis
OMIM:615280	MAP2K1	5604	HP:0000348	High forehead
OMIM:615280	MAP2K1	5604	HP:0000506	Telecanthus
OMIM:615280	MAP2K1	5604	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615280	MAP2K1	5604	HP:0000974	Hyperextensible skin
OMIM:615280	MAP2K1	5604	HP:0001321	Cerebellar hypoplasia
OMIM:615280	MAP2K1	5604	HP:0000609	Optic nerve hypoplasia
OMIM:615280	MAP2K1	5604	HP:0001642	Pulmonic stenosis
OMIM:615280	MAP2K1	5604	HP:0000341	Narrow forehead
OMIM:615280	MAP2K1	5604	HP:0000545	Myopia
OMIM:615280	MAP2K1	5604	HP:0000766	Abnormality of the sternum
OMIM:615280	MAP2K1	5604	HP:0001646	Abnormality of the aortic valve
OMIM:615280	MAP2K1	5604	HP:0001263	Global developmental delay
OMIM:615280	MAP2K1	5604	HP:0010438	Abnormality of the ventricular septum
OMIM:615280	MAP2K2	5605	HP:0004322	Short stature
OMIM:615280	MAP2K2	5605	HP:0000639	Nystagmus
OMIM:615280	MAP2K2	5605	HP:0000975	Hyperhidrosis
OMIM:615280	MAP2K2	5605	HP:0000486	Strabismus
OMIM:615280	MAP2K2	5605	HP:0001252	Muscular hypotonia
OMIM:615280	MAP2K2	5605	HP:0030047	Abnormality of lateral ventricle
OMIM:615280	MAP2K2	5605	HP:0000519	Congenital cataract
OMIM:615280	MAP2K2	5605	HP:0002650	Scoliosis
OMIM:615280	MAP2K2	5605	HP:0000348	High forehead
OMIM:615280	MAP2K2	5605	HP:0000506	Telecanthus
OMIM:615280	MAP2K2	5605	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615280	MAP2K2	5605	HP:0000974	Hyperextensible skin
OMIM:615280	MAP2K2	5605	HP:0001321	Cerebellar hypoplasia
OMIM:615280	MAP2K2	5605	HP:0000609	Optic nerve hypoplasia
OMIM:615280	MAP2K2	5605	HP:0001642	Pulmonic stenosis
OMIM:615280	MAP2K2	5605	HP:0000341	Narrow forehead
OMIM:615280	MAP2K2	5605	HP:0000545	Myopia
OMIM:615280	MAP2K2	5605	HP:0000766	Abnormality of the sternum
OMIM:615280	MAP2K2	5605	HP:0001646	Abnormality of the aortic valve
OMIM:615280	MAP2K2	5605	HP:0001263	Global developmental delay
OMIM:615280	MAP2K2	5605	HP:0010438	Abnormality of the ventricular septum
OMIM:615280	KRAS	3845	HP:0004322	Short stature
OMIM:615280	KRAS	3845	HP:0000639	Nystagmus
OMIM:615280	KRAS	3845	HP:0000975	Hyperhidrosis
OMIM:615280	KRAS	3845	HP:0000486	Strabismus
OMIM:615280	KRAS	3845	HP:0001252	Muscular hypotonia
OMIM:615280	KRAS	3845	HP:0030047	Abnormality of lateral ventricle
OMIM:615280	KRAS	3845	HP:0000519	Congenital cataract
OMIM:615280	KRAS	3845	HP:0002650	Scoliosis
OMIM:615280	KRAS	3845	HP:0000348	High forehead
OMIM:615280	KRAS	3845	HP:0000506	Telecanthus
OMIM:615280	KRAS	3845	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615280	KRAS	3845	HP:0000974	Hyperextensible skin
OMIM:615280	KRAS	3845	HP:0001321	Cerebellar hypoplasia
OMIM:615280	KRAS	3845	HP:0000609	Optic nerve hypoplasia
OMIM:615280	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:615280	KRAS	3845	HP:0000341	Narrow forehead
OMIM:615280	KRAS	3845	HP:0000545	Myopia
OMIM:615280	KRAS	3845	HP:0000766	Abnormality of the sternum
OMIM:615280	KRAS	3845	HP:0001646	Abnormality of the aortic valve
OMIM:615280	KRAS	3845	HP:0001263	Global developmental delay
OMIM:615280	KRAS	3845	HP:0010438	Abnormality of the ventricular septum
OMIM:616314	MUSK	4593	HP:0011968	Feeding difficulties
OMIM:616314	MUSK	4593	HP:0002093	Respiratory insufficiency
OMIM:616314	MUSK	4593	HP:0001324	Muscle weakness
OMIM:616314	MUSK	4593	HP:0001252	Muscular hypotonia
OMIM:616314	CHRNB1	1140	HP:0011968	Feeding difficulties
OMIM:616314	CHRNB1	1140	HP:0002093	Respiratory insufficiency
OMIM:616314	CHRNB1	1140	HP:0001324	Muscle weakness
OMIM:616314	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:616314	DOK7	285489	HP:0011968	Feeding difficulties
OMIM:616314	DOK7	285489	HP:0002093	Respiratory insufficiency
OMIM:616314	DOK7	285489	HP:0001324	Muscle weakness
OMIM:616314	DOK7	285489	HP:0001252	Muscular hypotonia
OMIM:616314	LRP4	4038	HP:0011968	Feeding difficulties
OMIM:616314	LRP4	4038	HP:0002093	Respiratory insufficiency
OMIM:616314	LRP4	4038	HP:0001324	Muscle weakness
OMIM:616314	LRP4	4038	HP:0001252	Muscular hypotonia
OMIM:616314	CHRND	1144	HP:0011968	Feeding difficulties
OMIM:616314	CHRND	1144	HP:0002093	Respiratory insufficiency
OMIM:616314	CHRND	1144	HP:0001324	Muscle weakness
OMIM:616314	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:616314	RAPSN	5913	HP:0011968	Feeding difficulties
OMIM:616314	RAPSN	5913	HP:0002093	Respiratory insufficiency
OMIM:616314	RAPSN	5913	HP:0001324	Muscle weakness
OMIM:616314	RAPSN	5913	HP:0001252	Muscular hypotonia
OMIM:616314	SCN4A	6329	HP:0011968	Feeding difficulties
OMIM:616314	SCN4A	6329	HP:0002093	Respiratory insufficiency
OMIM:616314	SCN4A	6329	HP:0001324	Muscle weakness
OMIM:616314	SCN4A	6329	HP:0001252	Muscular hypotonia
OMIM:616314	CHRNE	1145	HP:0011968	Feeding difficulties
OMIM:616314	CHRNE	1145	HP:0002093	Respiratory insufficiency
OMIM:616314	CHRNE	1145	HP:0001324	Muscle weakness
OMIM:616314	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:616314	AGRN	375790	HP:0011968	Feeding difficulties
OMIM:616314	AGRN	375790	HP:0002093	Respiratory insufficiency
OMIM:616314	AGRN	375790	HP:0001324	Muscle weakness
OMIM:616314	AGRN	375790	HP:0001252	Muscular hypotonia
OMIM:616314	CHRNA1	1134	HP:0011968	Feeding difficulties
OMIM:616314	CHRNA1	1134	HP:0002093	Respiratory insufficiency
OMIM:616314	CHRNA1	1134	HP:0001324	Muscle weakness
OMIM:616314	CHRNA1	1134	HP:0001252	Muscular hypotonia
OMIM:610773	SLC25A3	5250	HP:0000007	Autosomal recessive inheritance
OMIM:610773	SLC25A3	5250	HP:0001252	Muscular hypotonia
OMIM:610773	SLC25A3	5250	HP:0001942	Metabolic acidosis
OMIM:610773	SLC25A3	5250	HP:0001639	Hypertrophic cardiomyopathy
OMIM:610773	SLC25A3	5250	HP:0000961	Cyanosis
OMIM:610773	SLC25A3	5250	HP:0002093	Respiratory insufficiency
OMIM:610773	SLC25A3	5250	HP:0003128	Lactic acidosis
OMIM:615573	ADCK4	79934	HP:0003073	Hypoalbuminemia
OMIM:615573	ADCK4	79934	HP:0003676	Progressive
OMIM:615573	ADCK4	79934	HP:0003774	Stage 5 chronic kidney disease
OMIM:615573	ADCK4	79934	HP:0000093	Proteinuria
OMIM:615573	ADCK4	79934	HP:0000100	Nephrotic syndrome
OMIM:615573	ADCK4	79934	HP:0000969	Edema
OMIM:615573	ADCK4	79934	HP:0000007	Autosomal recessive inheritance
OMIM:614640	UVSSA	57654	HP:0000007	Autosomal recessive inheritance
OMIM:614640	UVSSA	57654	HP:0001009	Telangiectasia
OMIM:614640	UVSSA	57654	HP:0003593	Infantile onset
OMIM:614640	UVSSA	57654	HP:0000992	Cutaneous photosensitivity
OMIM:614640	UVSSA	57654	HP:0000958	Dry skin
OMIM:614640	UVSSA	57654	HP:0001480	Freckling
OMIM:614640	ERCC8	1161	HP:0000007	Autosomal recessive inheritance
OMIM:614640	ERCC8	1161	HP:0001009	Telangiectasia
OMIM:614640	ERCC8	1161	HP:0003593	Infantile onset
OMIM:614640	ERCC8	1161	HP:0000992	Cutaneous photosensitivity
OMIM:614640	ERCC8	1161	HP:0000958	Dry skin
OMIM:614640	ERCC8	1161	HP:0001480	Freckling
OMIM:614640	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:614640	ERCC6	2074	HP:0001009	Telangiectasia
OMIM:614640	ERCC6	2074	HP:0003593	Infantile onset
OMIM:614640	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:614640	ERCC6	2074	HP:0000958	Dry skin
OMIM:614640	ERCC6	2074	HP:0001480	Freckling
OMIM:182900	SPTA1	6708	HP:0001878	Hemolytic anemia
OMIM:182900	SPTA1	6708	HP:0001081	Cholelithiasis
OMIM:182900	SPTA1	6708	HP:0002904	Hyperbilirubinemia
OMIM:182900	SPTA1	6708	HP:0001923	Reticulocytosis
OMIM:182900	SPTA1	6708	HP:0001744	Splenomegaly
OMIM:182900	SPTA1	6708	HP:0000006	Autosomal dominant inheritance
OMIM:182900	SPTA1	6708	HP:0000952	Jaundice
OMIM:182900	SPTB	6710	HP:0001878	Hemolytic anemia
OMIM:182900	SPTB	6710	HP:0001081	Cholelithiasis
OMIM:182900	SPTB	6710	HP:0002904	Hyperbilirubinemia
OMIM:182900	SPTB	6710	HP:0001923	Reticulocytosis
OMIM:182900	SPTB	6710	HP:0001744	Splenomegaly
OMIM:182900	SPTB	6710	HP:0000006	Autosomal dominant inheritance
OMIM:182900	SPTB	6710	HP:0000952	Jaundice
OMIM:182900	EPB42	2038	HP:0001878	Hemolytic anemia
OMIM:182900	EPB42	2038	HP:0001081	Cholelithiasis
OMIM:182900	EPB42	2038	HP:0002904	Hyperbilirubinemia
OMIM:182900	EPB42	2038	HP:0001923	Reticulocytosis
OMIM:182900	EPB42	2038	HP:0001744	Splenomegaly
OMIM:182900	EPB42	2038	HP:0000006	Autosomal dominant inheritance
OMIM:182900	EPB42	2038	HP:0000952	Jaundice
OMIM:182900	SLC4A1	6521	HP:0001878	Hemolytic anemia
OMIM:182900	SLC4A1	6521	HP:0001081	Cholelithiasis
OMIM:182900	SLC4A1	6521	HP:0002904	Hyperbilirubinemia
OMIM:182900	SLC4A1	6521	HP:0001923	Reticulocytosis
OMIM:182900	SLC4A1	6521	HP:0001744	Splenomegaly
OMIM:182900	SLC4A1	6521	HP:0000006	Autosomal dominant inheritance
OMIM:182900	SLC4A1	6521	HP:0000952	Jaundice
OMIM:182900	ANK1	286	HP:0001878	Hemolytic anemia
OMIM:182900	ANK1	286	HP:0001081	Cholelithiasis
OMIM:182900	ANK1	286	HP:0002904	Hyperbilirubinemia
OMIM:182900	ANK1	286	HP:0001923	Reticulocytosis
OMIM:182900	ANK1	286	HP:0001744	Splenomegaly
OMIM:182900	ANK1	286	HP:0000006	Autosomal dominant inheritance
OMIM:182900	ANK1	286	HP:0000952	Jaundice
OMIM:612291	CEP41	95681	HP:0000657	Oculomotor apraxia
OMIM:612291	CEP41	95681	HP:0001252	Muscular hypotonia
OMIM:612291	CEP41	95681	HP:0002419	Molar tooth sign on MRI
OMIM:612291	CEP41	95681	HP:0000007	Autosomal recessive inheritance
OMIM:612291	CEP41	95681	HP:0001263	Global developmental delay
OMIM:612291	C5ORF42	65250	HP:0000657	Oculomotor apraxia
OMIM:612291	C5ORF42	65250	HP:0001252	Muscular hypotonia
OMIM:612291	C5ORF42	65250	HP:0002419	Molar tooth sign on MRI
OMIM:612291	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:612291	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:612291	B9D1	27077	HP:0000657	Oculomotor apraxia
OMIM:612291	B9D1	27077	HP:0001252	Muscular hypotonia
OMIM:612291	B9D1	27077	HP:0002419	Molar tooth sign on MRI
OMIM:612291	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:612291	B9D1	27077	HP:0001263	Global developmental delay
OMIM:612291	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:612291	TMEM237	65062	HP:0001252	Muscular hypotonia
OMIM:612291	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:612291	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:612291	TMEM237	65062	HP:0001263	Global developmental delay
OMIM:612291	CSPP1	79848	HP:0000657	Oculomotor apraxia
OMIM:612291	CSPP1	79848	HP:0001252	Muscular hypotonia
OMIM:612291	CSPP1	79848	HP:0002419	Molar tooth sign on MRI
OMIM:612291	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:612291	CSPP1	79848	HP:0001263	Global developmental delay
OMIM:612291	TMEM67	91147	HP:0000657	Oculomotor apraxia
OMIM:612291	TMEM67	91147	HP:0001252	Muscular hypotonia
OMIM:612291	TMEM67	91147	HP:0002419	Molar tooth sign on MRI
OMIM:612291	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:612291	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:612291	INPP5E	56623	HP:0000657	Oculomotor apraxia
OMIM:612291	INPP5E	56623	HP:0001252	Muscular hypotonia
OMIM:612291	INPP5E	56623	HP:0002419	Molar tooth sign on MRI
OMIM:612291	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:612291	INPP5E	56623	HP:0001263	Global developmental delay
OMIM:612291	TCTN1	79600	HP:0000657	Oculomotor apraxia
OMIM:612291	TCTN1	79600	HP:0001252	Muscular hypotonia
OMIM:612291	TCTN1	79600	HP:0002419	Molar tooth sign on MRI
OMIM:612291	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:612291	TCTN1	79600	HP:0001263	Global developmental delay
OMIM:612291	AHI1	54806	HP:0000657	Oculomotor apraxia
OMIM:612291	AHI1	54806	HP:0001252	Muscular hypotonia
OMIM:612291	AHI1	54806	HP:0002419	Molar tooth sign on MRI
OMIM:612291	AHI1	54806	HP:0000007	Autosomal recessive inheritance
OMIM:612291	AHI1	54806	HP:0001263	Global developmental delay
OMIM:612291	MKS1	54903	HP:0000657	Oculomotor apraxia
OMIM:612291	MKS1	54903	HP:0001252	Muscular hypotonia
OMIM:612291	MKS1	54903	HP:0002419	Molar tooth sign on MRI
OMIM:612291	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:612291	MKS1	54903	HP:0001263	Global developmental delay
OMIM:612291	TCTN2	79867	HP:0000657	Oculomotor apraxia
OMIM:612291	TCTN2	79867	HP:0001252	Muscular hypotonia
OMIM:612291	TCTN2	79867	HP:0002419	Molar tooth sign on MRI
OMIM:612291	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:612291	TCTN2	79867	HP:0001263	Global developmental delay
OMIM:612291	KIAA0586	9786	HP:0000657	Oculomotor apraxia
OMIM:612291	KIAA0586	9786	HP:0001252	Muscular hypotonia
OMIM:612291	KIAA0586	9786	HP:0002419	Molar tooth sign on MRI
OMIM:612291	KIAA0586	9786	HP:0000007	Autosomal recessive inheritance
OMIM:612291	KIAA0586	9786	HP:0001263	Global developmental delay
OMIM:612291	ARL13B	200894	HP:0000657	Oculomotor apraxia
OMIM:612291	ARL13B	200894	HP:0001252	Muscular hypotonia
OMIM:612291	ARL13B	200894	HP:0002419	Molar tooth sign on MRI
OMIM:612291	ARL13B	200894	HP:0000007	Autosomal recessive inheritance
OMIM:612291	ARL13B	200894	HP:0001263	Global developmental delay
OMIM:616038	PSAT1	29968	HP:0000316	Hypertelorism
OMIM:616038	PSAT1	29968	HP:0001838	Rocker bottom foot
OMIM:616038	PSAT1	29968	HP:0001558	Decreased fetal movement
OMIM:616038	PSAT1	29968	HP:0000252	Microcephaly
OMIM:616038	PSAT1	29968	HP:0008064	Ichthyosis
OMIM:616038	PSAT1	29968	HP:0000340	Sloping forehead
OMIM:616038	PSAT1	29968	HP:0000347	Micrognathia
OMIM:616038	PSAT1	29968	HP:0000457	Depressed nasal ridge
OMIM:616038	PSAT1	29968	HP:0000218	High palate
OMIM:616038	PSAT1	29968	HP:0002650	Scoliosis
OMIM:616038	PSAT1	29968	HP:0001511	Intrauterine growth retardation
OMIM:616038	PSAT1	29968	HP:0000377	Abnormality of the pinna
OMIM:616038	PSAT1	29968	HP:0000369	Low-set ears
OMIM:616038	PSAT1	29968	HP:0000175	Cleft palate
OMIM:616038	PSAT1	29968	HP:0000470	Short neck
OMIM:616038	PHGDH	26227	HP:0000316	Hypertelorism
OMIM:616038	PHGDH	26227	HP:0001838	Rocker bottom foot
OMIM:616038	PHGDH	26227	HP:0001558	Decreased fetal movement
OMIM:616038	PHGDH	26227	HP:0000252	Microcephaly
OMIM:616038	PHGDH	26227	HP:0008064	Ichthyosis
OMIM:616038	PHGDH	26227	HP:0000340	Sloping forehead
OMIM:616038	PHGDH	26227	HP:0000347	Micrognathia
OMIM:616038	PHGDH	26227	HP:0000457	Depressed nasal ridge
OMIM:616038	PHGDH	26227	HP:0000218	High palate
OMIM:616038	PHGDH	26227	HP:0002650	Scoliosis
OMIM:616038	PHGDH	26227	HP:0001511	Intrauterine growth retardation
OMIM:616038	PHGDH	26227	HP:0000377	Abnormality of the pinna
OMIM:616038	PHGDH	26227	HP:0000369	Low-set ears
OMIM:616038	PHGDH	26227	HP:0000175	Cleft palate
OMIM:616038	PHGDH	26227	HP:0000470	Short neck
OMIM:610021	SLC16A1	6566	HP:0000006	Autosomal dominant inheritance
OMIM:230740	ANTXR1	84168	HP:0000174	Abnormality of the palate
OMIM:230740	ANTXR1	84168	HP:0000007	Autosomal recessive inheritance
OMIM:230740	ANTXR1	84168	HP:0002750	Delayed skeletal maturation
OMIM:230740	ANTXR1	84168	HP:0009891	Underdeveloped supraorbital ridges
OMIM:230740	ANTXR1	84168	HP:0000648	Optic atrophy
OMIM:230740	ANTXR1	84168	HP:0001555	Asymmetry of the thorax
OMIM:230740	ANTXR1	84168	HP:0001382	Joint hypermobility
OMIM:230740	ANTXR1	84168	HP:0000270	Delayed cranial suture closure
OMIM:230740	ANTXR1	84168	HP:0004322	Short stature
OMIM:230740	ANTXR1	84168	HP:0000563	Keratoconus
OMIM:230740	ANTXR1	84168	HP:0000303	Mandibular prognathia
OMIM:230740	ANTXR1	84168	HP:0005280	Depressed nasal bridge
OMIM:230740	ANTXR1	84168	HP:0000316	Hypertelorism
OMIM:230740	ANTXR1	84168	HP:0000343	Long philtrum
OMIM:230740	ANTXR1	84168	HP:0000684	Delayed eruption of teeth
OMIM:230740	ANTXR1	84168	HP:0002007	Frontal bossing
OMIM:230740	ANTXR1	84168	HP:0000639	Nystagmus
OMIM:230740	ANTXR1	84168	HP:0100659	Abnormality of the cerebral vasculature
OMIM:230740	ANTXR1	84168	HP:0000272	Malar flattening
OMIM:230740	ANTXR1	84168	HP:0000337	Broad forehead
OMIM:230740	ANTXR1	84168	HP:0001537	Umbilical hernia
OMIM:230740	ANTXR1	84168	HP:0001596	Alopecia
OMIM:230740	ANTXR1	84168	HP:0000232	Everted lower lip vermilion
OMIM:230740	ANTXR1	84168	HP:0000365	Hearing impairment
OMIM:230740	ANTXR1	84168	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:230740	ANTXR1	84168	HP:0000545	Myopia
OMIM:230740	ANTXR1	84168	HP:0000347	Micrognathia
OMIM:230740	ANTXR1	84168	HP:0000869	Secondary amenorrhea
OMIM:230740	ANTXR1	84168	HP:0000499	Abnormality of the eyelashes
OMIM:230740	ANTXR1	84168	HP:0000501	Glaucoma
OMIM:230740	ANTXR1	84168	HP:0000463	Anteverted nares
OMIM:230740	ANTXR1	84168	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:230740	ANTXR1	84168	HP:0007495	Prematurely aged appearance
OMIM:230740	ANTXR1	84168	HP:0000179	Thick lower lip vermilion
OMIM:230740	ANTXR1	84168	HP:0000944	Abnormality of the metaphyses
OMIM:230740	ANTXR1	84168	HP:0004331	Decreased skull ossification
OMIM:230740	ANTXR1	84168	HP:0100689	Decreased corneal thickness
OMIM:230740	ANTXR1	84168	HP:0000974	Hyperextensible skin
OMIM:230740	ANTXR1	84168	HP:0000889	Abnormality of the clavicle
OMIM:230740	ANTXR1	84168	HP:0000411	Protruding ear
OMIM:230740	ANTXR1	84168	HP:0001510	Growth delay
OMIM:230740	ANTXR1	84168	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:230740	ANTXR1	84168	HP:0000368	Low-set, posteriorly rotated ears
OMIM:230740	ANTXR1	84168	HP:0002621	Atherosclerosis
OMIM:230740	ANTXR1	84168	HP:0001053	Hypopigmented skin patches
OMIM:230740	ANTXR1	84168	HP:0000453	Choanal atresia
OMIM:230740	ANTXR1	84168	HP:0000787	Nephrolithiasis
OMIM:230740	ANTXR1	84168	HP:0002557	Hypoplastic nipples
OMIM:230740	ANTXR1	84168	HP:0000164	Abnormality of the teeth
OMIM:230740	ANTXR1	84168	HP:0000505	Visual impairment
OMIM:230740	ANTXR1	84168	HP:0000348	High forehead
OMIM:615542	SRY	6736	HP:0001636	Tetralogy of Fallot
OMIM:615542	SRY	6736	HP:0000006	Autosomal dominant inheritance
OMIM:615542	SRY	6736	HP:0008715	Testicular dysgenesis
OMIM:615542	SRY	6736	HP:0000062	Ambiguous genitalia
OMIM:615542	SRY	6736	HP:0030260	Microphallus
OMIM:615542	SRY	6736	HP:0000028	Cryptorchidism
OMIM:615542	SRY	6736	HP:0000051	Perineal hypospadias
OMIM:615542	SRY	6736	HP:0000054	Micropenis
OMIM:615542	GATA4	2626	HP:0001636	Tetralogy of Fallot
OMIM:615542	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:615542	GATA4	2626	HP:0008715	Testicular dysgenesis
OMIM:615542	GATA4	2626	HP:0000062	Ambiguous genitalia
OMIM:615542	GATA4	2626	HP:0030260	Microphallus
OMIM:615542	GATA4	2626	HP:0000028	Cryptorchidism
OMIM:615542	GATA4	2626	HP:0000051	Perineal hypospadias
OMIM:615542	GATA4	2626	HP:0000054	Micropenis
OMIM:615542	WT1	7490	HP:0001636	Tetralogy of Fallot
OMIM:615542	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:615542	WT1	7490	HP:0008715	Testicular dysgenesis
OMIM:615542	WT1	7490	HP:0000062	Ambiguous genitalia
OMIM:615542	WT1	7490	HP:0030260	Microphallus
OMIM:615542	WT1	7490	HP:0000028	Cryptorchidism
OMIM:615542	WT1	7490	HP:0000051	Perineal hypospadias
OMIM:615542	WT1	7490	HP:0000054	Micropenis
OMIM:615542	NR5A1	2516	HP:0001636	Tetralogy of Fallot
OMIM:615542	NR5A1	2516	HP:0000006	Autosomal dominant inheritance
OMIM:615542	NR5A1	2516	HP:0008715	Testicular dysgenesis
OMIM:615542	NR5A1	2516	HP:0000062	Ambiguous genitalia
OMIM:615542	NR5A1	2516	HP:0030260	Microphallus
OMIM:615542	NR5A1	2516	HP:0000028	Cryptorchidism
OMIM:615542	NR5A1	2516	HP:0000051	Perineal hypospadias
OMIM:615542	NR5A1	2516	HP:0000054	Micropenis
OMIM:615542	SOX9	6662	HP:0001636	Tetralogy of Fallot
OMIM:615542	SOX9	6662	HP:0000006	Autosomal dominant inheritance
OMIM:615542	SOX9	6662	HP:0008715	Testicular dysgenesis
OMIM:615542	SOX9	6662	HP:0000062	Ambiguous genitalia
OMIM:615542	SOX9	6662	HP:0030260	Microphallus
OMIM:615542	SOX9	6662	HP:0000028	Cryptorchidism
OMIM:615542	SOX9	6662	HP:0000051	Perineal hypospadias
OMIM:615542	SOX9	6662	HP:0000054	Micropenis
OMIM:615542	ZFPM2	23414	HP:0001636	Tetralogy of Fallot
OMIM:615542	ZFPM2	23414	HP:0000006	Autosomal dominant inheritance
OMIM:615542	ZFPM2	23414	HP:0008715	Testicular dysgenesis
OMIM:615542	ZFPM2	23414	HP:0000062	Ambiguous genitalia
OMIM:615542	ZFPM2	23414	HP:0030260	Microphallus
OMIM:615542	ZFPM2	23414	HP:0000028	Cryptorchidism
OMIM:615542	ZFPM2	23414	HP:0000051	Perineal hypospadias
OMIM:615542	ZFPM2	23414	HP:0000054	Micropenis
OMIM:615542	MAP3K1	4214	HP:0001636	Tetralogy of Fallot
OMIM:615542	MAP3K1	4214	HP:0000006	Autosomal dominant inheritance
OMIM:615542	MAP3K1	4214	HP:0008715	Testicular dysgenesis
OMIM:615542	MAP3K1	4214	HP:0000062	Ambiguous genitalia
OMIM:615542	MAP3K1	4214	HP:0030260	Microphallus
OMIM:615542	MAP3K1	4214	HP:0000028	Cryptorchidism
OMIM:615542	MAP3K1	4214	HP:0000051	Perineal hypospadias
OMIM:615542	MAP3K1	4214	HP:0000054	Micropenis
OMIM:615542	WWOX	51741	HP:0001636	Tetralogy of Fallot
OMIM:615542	WWOX	51741	HP:0000006	Autosomal dominant inheritance
OMIM:615542	WWOX	51741	HP:0008715	Testicular dysgenesis
OMIM:615542	WWOX	51741	HP:0000062	Ambiguous genitalia
OMIM:615542	WWOX	51741	HP:0030260	Microphallus
OMIM:615542	WWOX	51741	HP:0000028	Cryptorchidism
OMIM:615542	WWOX	51741	HP:0000051	Perineal hypospadias
OMIM:615542	WWOX	51741	HP:0000054	Micropenis
OMIM:615542	VAMP7	6845	HP:0001636	Tetralogy of Fallot
OMIM:615542	VAMP7	6845	HP:0000006	Autosomal dominant inheritance
OMIM:615542	VAMP7	6845	HP:0008715	Testicular dysgenesis
OMIM:615542	VAMP7	6845	HP:0000062	Ambiguous genitalia
OMIM:615542	VAMP7	6845	HP:0030260	Microphallus
OMIM:615542	VAMP7	6845	HP:0000028	Cryptorchidism
OMIM:615542	VAMP7	6845	HP:0000051	Perineal hypospadias
OMIM:615542	VAMP7	6845	HP:0000054	Micropenis
OMIM:615542	NR0B1	190	HP:0001636	Tetralogy of Fallot
OMIM:615542	NR0B1	190	HP:0000006	Autosomal dominant inheritance
OMIM:615542	NR0B1	190	HP:0008715	Testicular dysgenesis
OMIM:615542	NR0B1	190	HP:0000062	Ambiguous genitalia
OMIM:615542	NR0B1	190	HP:0030260	Microphallus
OMIM:615542	NR0B1	190	HP:0000028	Cryptorchidism
OMIM:615542	NR0B1	190	HP:0000051	Perineal hypospadias
OMIM:615542	NR0B1	190	HP:0000054	Micropenis
OMIM:616069	EGFR	1956	HP:0001508	Failure to thrive
OMIM:616069	EGFR	1956	HP:0000822	Hypertension
OMIM:616069	EGFR	1956	HP:0006532	Recurrent pneumonia
OMIM:616069	EGFR	1956	HP:0002013	Vomiting
OMIM:616069	ADAM17	6868	HP:0001508	Failure to thrive
OMIM:616069	ADAM17	6868	HP:0000822	Hypertension
OMIM:616069	ADAM17	6868	HP:0006532	Recurrent pneumonia
OMIM:616069	ADAM17	6868	HP:0002013	Vomiting
OMIM:601154	TPM1	7168	HP:0004749	Atrial flutter
OMIM:601154	TPM1	7168	HP:0005110	Atrial fibrillation
OMIM:601154	TPM1	7168	HP:0001678	Atrioventricular block
OMIM:601154	TPM1	7168	HP:0011713	Left bundle branch block
OMIM:601154	TPM1	7168	HP:0001279	Syncope
OMIM:601154	TPM1	7168	HP:0006673	Reduced systolic function
OMIM:601154	TPM1	7168	HP:0011712	Right bundle branch block
OMIM:601154	TPM1	7168	HP:0001962	Palpitations
OMIM:601154	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:601154	TPM1	7168	HP:0001297	Stroke
OMIM:601154	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:601154	CRYAB	1410	HP:0004749	Atrial flutter
OMIM:601154	CRYAB	1410	HP:0005110	Atrial fibrillation
OMIM:601154	CRYAB	1410	HP:0001678	Atrioventricular block
OMIM:601154	CRYAB	1410	HP:0011713	Left bundle branch block
OMIM:601154	CRYAB	1410	HP:0001279	Syncope
OMIM:601154	CRYAB	1410	HP:0006673	Reduced systolic function
OMIM:601154	CRYAB	1410	HP:0011712	Right bundle branch block
OMIM:601154	CRYAB	1410	HP:0001962	Palpitations
OMIM:601154	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:601154	CRYAB	1410	HP:0001297	Stroke
OMIM:601154	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:601154	ACTC1	70	HP:0004749	Atrial flutter
OMIM:601154	ACTC1	70	HP:0005110	Atrial fibrillation
OMIM:601154	ACTC1	70	HP:0001678	Atrioventricular block
OMIM:601154	ACTC1	70	HP:0011713	Left bundle branch block
OMIM:601154	ACTC1	70	HP:0001279	Syncope
OMIM:601154	ACTC1	70	HP:0006673	Reduced systolic function
OMIM:601154	ACTC1	70	HP:0011712	Right bundle branch block
OMIM:601154	ACTC1	70	HP:0001962	Palpitations
OMIM:601154	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:601154	ACTC1	70	HP:0001297	Stroke
OMIM:601154	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:601154	RAF1	5894	HP:0004749	Atrial flutter
OMIM:601154	RAF1	5894	HP:0005110	Atrial fibrillation
OMIM:601154	RAF1	5894	HP:0001678	Atrioventricular block
OMIM:601154	RAF1	5894	HP:0011713	Left bundle branch block
OMIM:601154	RAF1	5894	HP:0001279	Syncope
OMIM:601154	RAF1	5894	HP:0006673	Reduced systolic function
OMIM:601154	RAF1	5894	HP:0011712	Right bundle branch block
OMIM:601154	RAF1	5894	HP:0001962	Palpitations
OMIM:601154	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:601154	RAF1	5894	HP:0001297	Stroke
OMIM:601154	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:601154	GATAD1	57798	HP:0004749	Atrial flutter
OMIM:601154	GATAD1	57798	HP:0005110	Atrial fibrillation
OMIM:601154	GATAD1	57798	HP:0001678	Atrioventricular block
OMIM:601154	GATAD1	57798	HP:0011713	Left bundle branch block
OMIM:601154	GATAD1	57798	HP:0001279	Syncope
OMIM:601154	GATAD1	57798	HP:0006673	Reduced systolic function
OMIM:601154	GATAD1	57798	HP:0011712	Right bundle branch block
OMIM:601154	GATAD1	57798	HP:0001962	Palpitations
OMIM:601154	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:601154	GATAD1	57798	HP:0001297	Stroke
OMIM:601154	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:601154	LAMA4	3910	HP:0004749	Atrial flutter
OMIM:601154	LAMA4	3910	HP:0005110	Atrial fibrillation
OMIM:601154	LAMA4	3910	HP:0001678	Atrioventricular block
OMIM:601154	LAMA4	3910	HP:0011713	Left bundle branch block
OMIM:601154	LAMA4	3910	HP:0001279	Syncope
OMIM:601154	LAMA4	3910	HP:0006673	Reduced systolic function
OMIM:601154	LAMA4	3910	HP:0011712	Right bundle branch block
OMIM:601154	LAMA4	3910	HP:0001962	Palpitations
OMIM:601154	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:601154	LAMA4	3910	HP:0001297	Stroke
OMIM:601154	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:601154	TMPO	7112	HP:0004749	Atrial flutter
OMIM:601154	TMPO	7112	HP:0005110	Atrial fibrillation
OMIM:601154	TMPO	7112	HP:0001678	Atrioventricular block
OMIM:601154	TMPO	7112	HP:0011713	Left bundle branch block
OMIM:601154	TMPO	7112	HP:0001279	Syncope
OMIM:601154	TMPO	7112	HP:0006673	Reduced systolic function
OMIM:601154	TMPO	7112	HP:0011712	Right bundle branch block
OMIM:601154	TMPO	7112	HP:0001962	Palpitations
OMIM:601154	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:601154	TMPO	7112	HP:0001297	Stroke
OMIM:601154	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:601154	DES	1674	HP:0004749	Atrial flutter
OMIM:601154	DES	1674	HP:0005110	Atrial fibrillation
OMIM:601154	DES	1674	HP:0001678	Atrioventricular block
OMIM:601154	DES	1674	HP:0011713	Left bundle branch block
OMIM:601154	DES	1674	HP:0001279	Syncope
OMIM:601154	DES	1674	HP:0006673	Reduced systolic function
OMIM:601154	DES	1674	HP:0011712	Right bundle branch block
OMIM:601154	DES	1674	HP:0001962	Palpitations
OMIM:601154	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:601154	DES	1674	HP:0001297	Stroke
OMIM:601154	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:601154	ABCC9	10060	HP:0004749	Atrial flutter
OMIM:601154	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:601154	ABCC9	10060	HP:0001678	Atrioventricular block
OMIM:601154	ABCC9	10060	HP:0011713	Left bundle branch block
OMIM:601154	ABCC9	10060	HP:0001279	Syncope
OMIM:601154	ABCC9	10060	HP:0006673	Reduced systolic function
OMIM:601154	ABCC9	10060	HP:0011712	Right bundle branch block
OMIM:601154	ABCC9	10060	HP:0001962	Palpitations
OMIM:601154	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:601154	ABCC9	10060	HP:0001297	Stroke
OMIM:601154	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:601154	MYH6	4624	HP:0004749	Atrial flutter
OMIM:601154	MYH6	4624	HP:0005110	Atrial fibrillation
OMIM:601154	MYH6	4624	HP:0001678	Atrioventricular block
OMIM:601154	MYH6	4624	HP:0011713	Left bundle branch block
OMIM:601154	MYH6	4624	HP:0001279	Syncope
OMIM:601154	MYH6	4624	HP:0006673	Reduced systolic function
OMIM:601154	MYH6	4624	HP:0011712	Right bundle branch block
OMIM:601154	MYH6	4624	HP:0001962	Palpitations
OMIM:601154	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:601154	MYH6	4624	HP:0001297	Stroke
OMIM:601154	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:601154	MYH7	4625	HP:0004749	Atrial flutter
OMIM:601154	MYH7	4625	HP:0005110	Atrial fibrillation
OMIM:601154	MYH7	4625	HP:0001678	Atrioventricular block
OMIM:601154	MYH7	4625	HP:0011713	Left bundle branch block
OMIM:601154	MYH7	4625	HP:0001279	Syncope
OMIM:601154	MYH7	4625	HP:0006673	Reduced systolic function
OMIM:601154	MYH7	4625	HP:0011712	Right bundle branch block
OMIM:601154	MYH7	4625	HP:0001962	Palpitations
OMIM:601154	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:601154	MYH7	4625	HP:0001297	Stroke
OMIM:601154	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:601154	LDB3	11155	HP:0004749	Atrial flutter
OMIM:601154	LDB3	11155	HP:0005110	Atrial fibrillation
OMIM:601154	LDB3	11155	HP:0001678	Atrioventricular block
OMIM:601154	LDB3	11155	HP:0011713	Left bundle branch block
OMIM:601154	LDB3	11155	HP:0001279	Syncope
OMIM:601154	LDB3	11155	HP:0006673	Reduced systolic function
OMIM:601154	LDB3	11155	HP:0011712	Right bundle branch block
OMIM:601154	LDB3	11155	HP:0001962	Palpitations
OMIM:601154	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:601154	LDB3	11155	HP:0001297	Stroke
OMIM:601154	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:601154	ACTN2	88	HP:0004749	Atrial flutter
OMIM:601154	ACTN2	88	HP:0005110	Atrial fibrillation
OMIM:601154	ACTN2	88	HP:0001678	Atrioventricular block
OMIM:601154	ACTN2	88	HP:0011713	Left bundle branch block
OMIM:601154	ACTN2	88	HP:0001279	Syncope
OMIM:601154	ACTN2	88	HP:0006673	Reduced systolic function
OMIM:601154	ACTN2	88	HP:0011712	Right bundle branch block
OMIM:601154	ACTN2	88	HP:0001962	Palpitations
OMIM:601154	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:601154	ACTN2	88	HP:0001297	Stroke
OMIM:601154	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:601154	TXNRD2	10587	HP:0004749	Atrial flutter
OMIM:601154	TXNRD2	10587	HP:0005110	Atrial fibrillation
OMIM:601154	TXNRD2	10587	HP:0001678	Atrioventricular block
OMIM:601154	TXNRD2	10587	HP:0011713	Left bundle branch block
OMIM:601154	TXNRD2	10587	HP:0001279	Syncope
OMIM:601154	TXNRD2	10587	HP:0006673	Reduced systolic function
OMIM:601154	TXNRD2	10587	HP:0011712	Right bundle branch block
OMIM:601154	TXNRD2	10587	HP:0001962	Palpitations
OMIM:601154	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:601154	TXNRD2	10587	HP:0001297	Stroke
OMIM:601154	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:601154	DMD	1756	HP:0004749	Atrial flutter
OMIM:601154	DMD	1756	HP:0005110	Atrial fibrillation
OMIM:601154	DMD	1756	HP:0001678	Atrioventricular block
OMIM:601154	DMD	1756	HP:0011713	Left bundle branch block
OMIM:601154	DMD	1756	HP:0001279	Syncope
OMIM:601154	DMD	1756	HP:0006673	Reduced systolic function
OMIM:601154	DMD	1756	HP:0011712	Right bundle branch block
OMIM:601154	DMD	1756	HP:0001962	Palpitations
OMIM:601154	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:601154	DMD	1756	HP:0001297	Stroke
OMIM:601154	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:601154	TNNC1	7134	HP:0004749	Atrial flutter
OMIM:601154	TNNC1	7134	HP:0005110	Atrial fibrillation
OMIM:601154	TNNC1	7134	HP:0001678	Atrioventricular block
OMIM:601154	TNNC1	7134	HP:0011713	Left bundle branch block
OMIM:601154	TNNC1	7134	HP:0001279	Syncope
OMIM:601154	TNNC1	7134	HP:0006673	Reduced systolic function
OMIM:601154	TNNC1	7134	HP:0011712	Right bundle branch block
OMIM:601154	TNNC1	7134	HP:0001962	Palpitations
OMIM:601154	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:601154	TNNC1	7134	HP:0001297	Stroke
OMIM:601154	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:601154	PSEN1	5663	HP:0004749	Atrial flutter
OMIM:601154	PSEN1	5663	HP:0005110	Atrial fibrillation
OMIM:601154	PSEN1	5663	HP:0001678	Atrioventricular block
OMIM:601154	PSEN1	5663	HP:0011713	Left bundle branch block
OMIM:601154	PSEN1	5663	HP:0001279	Syncope
OMIM:601154	PSEN1	5663	HP:0006673	Reduced systolic function
OMIM:601154	PSEN1	5663	HP:0011712	Right bundle branch block
OMIM:601154	PSEN1	5663	HP:0001962	Palpitations
OMIM:601154	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:601154	PSEN1	5663	HP:0001297	Stroke
OMIM:601154	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:601154	PSEN2	5664	HP:0004749	Atrial flutter
OMIM:601154	PSEN2	5664	HP:0005110	Atrial fibrillation
OMIM:601154	PSEN2	5664	HP:0001678	Atrioventricular block
OMIM:601154	PSEN2	5664	HP:0011713	Left bundle branch block
OMIM:601154	PSEN2	5664	HP:0001279	Syncope
OMIM:601154	PSEN2	5664	HP:0006673	Reduced systolic function
OMIM:601154	PSEN2	5664	HP:0011712	Right bundle branch block
OMIM:601154	PSEN2	5664	HP:0001962	Palpitations
OMIM:601154	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:601154	PSEN2	5664	HP:0001297	Stroke
OMIM:601154	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:601154	TNNI3	7137	HP:0004749	Atrial flutter
OMIM:601154	TNNI3	7137	HP:0005110	Atrial fibrillation
OMIM:601154	TNNI3	7137	HP:0001678	Atrioventricular block
OMIM:601154	TNNI3	7137	HP:0011713	Left bundle branch block
OMIM:601154	TNNI3	7137	HP:0001279	Syncope
OMIM:601154	TNNI3	7137	HP:0006673	Reduced systolic function
OMIM:601154	TNNI3	7137	HP:0011712	Right bundle branch block
OMIM:601154	TNNI3	7137	HP:0001962	Palpitations
OMIM:601154	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:601154	TNNI3	7137	HP:0001297	Stroke
OMIM:601154	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:601154	FHL2	2274	HP:0004749	Atrial flutter
OMIM:601154	FHL2	2274	HP:0005110	Atrial fibrillation
OMIM:601154	FHL2	2274	HP:0001678	Atrioventricular block
OMIM:601154	FHL2	2274	HP:0011713	Left bundle branch block
OMIM:601154	FHL2	2274	HP:0001279	Syncope
OMIM:601154	FHL2	2274	HP:0006673	Reduced systolic function
OMIM:601154	FHL2	2274	HP:0011712	Right bundle branch block
OMIM:601154	FHL2	2274	HP:0001962	Palpitations
OMIM:601154	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:601154	FHL2	2274	HP:0001297	Stroke
OMIM:601154	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:601154	TNNT2	7139	HP:0004749	Atrial flutter
OMIM:601154	TNNT2	7139	HP:0005110	Atrial fibrillation
OMIM:601154	TNNT2	7139	HP:0001678	Atrioventricular block
OMIM:601154	TNNT2	7139	HP:0011713	Left bundle branch block
OMIM:601154	TNNT2	7139	HP:0001279	Syncope
OMIM:601154	TNNT2	7139	HP:0006673	Reduced systolic function
OMIM:601154	TNNT2	7139	HP:0011712	Right bundle branch block
OMIM:601154	TNNT2	7139	HP:0001962	Palpitations
OMIM:601154	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:601154	TNNT2	7139	HP:0001297	Stroke
OMIM:601154	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:601154	DSG2	1829	HP:0004749	Atrial flutter
OMIM:601154	DSG2	1829	HP:0005110	Atrial fibrillation
OMIM:601154	DSG2	1829	HP:0001678	Atrioventricular block
OMIM:601154	DSG2	1829	HP:0011713	Left bundle branch block
OMIM:601154	DSG2	1829	HP:0001279	Syncope
OMIM:601154	DSG2	1829	HP:0006673	Reduced systolic function
OMIM:601154	DSG2	1829	HP:0011712	Right bundle branch block
OMIM:601154	DSG2	1829	HP:0001962	Palpitations
OMIM:601154	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:601154	DSG2	1829	HP:0001297	Stroke
OMIM:601154	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:601154	PLN	5350	HP:0004749	Atrial flutter
OMIM:601154	PLN	5350	HP:0005110	Atrial fibrillation
OMIM:601154	PLN	5350	HP:0001678	Atrioventricular block
OMIM:601154	PLN	5350	HP:0011713	Left bundle branch block
OMIM:601154	PLN	5350	HP:0001279	Syncope
OMIM:601154	PLN	5350	HP:0006673	Reduced systolic function
OMIM:601154	PLN	5350	HP:0011712	Right bundle branch block
OMIM:601154	PLN	5350	HP:0001962	Palpitations
OMIM:601154	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:601154	PLN	5350	HP:0001297	Stroke
OMIM:601154	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:601154	PRDM16	63976	HP:0004749	Atrial flutter
OMIM:601154	PRDM16	63976	HP:0005110	Atrial fibrillation
OMIM:601154	PRDM16	63976	HP:0001678	Atrioventricular block
OMIM:601154	PRDM16	63976	HP:0011713	Left bundle branch block
OMIM:601154	PRDM16	63976	HP:0001279	Syncope
OMIM:601154	PRDM16	63976	HP:0006673	Reduced systolic function
OMIM:601154	PRDM16	63976	HP:0011712	Right bundle branch block
OMIM:601154	PRDM16	63976	HP:0001962	Palpitations
OMIM:601154	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:601154	PRDM16	63976	HP:0001297	Stroke
OMIM:601154	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:601154	TTN	7273	HP:0004749	Atrial flutter
OMIM:601154	TTN	7273	HP:0005110	Atrial fibrillation
OMIM:601154	TTN	7273	HP:0001678	Atrioventricular block
OMIM:601154	TTN	7273	HP:0011713	Left bundle branch block
OMIM:601154	TTN	7273	HP:0001279	Syncope
OMIM:601154	TTN	7273	HP:0006673	Reduced systolic function
OMIM:601154	TTN	7273	HP:0011712	Right bundle branch block
OMIM:601154	TTN	7273	HP:0001962	Palpitations
OMIM:601154	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:601154	TTN	7273	HP:0001297	Stroke
OMIM:601154	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:601154	NEXN	91624	HP:0004749	Atrial flutter
OMIM:601154	NEXN	91624	HP:0005110	Atrial fibrillation
OMIM:601154	NEXN	91624	HP:0001678	Atrioventricular block
OMIM:601154	NEXN	91624	HP:0011713	Left bundle branch block
OMIM:601154	NEXN	91624	HP:0001279	Syncope
OMIM:601154	NEXN	91624	HP:0006673	Reduced systolic function
OMIM:601154	NEXN	91624	HP:0011712	Right bundle branch block
OMIM:601154	NEXN	91624	HP:0001962	Palpitations
OMIM:601154	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:601154	NEXN	91624	HP:0001297	Stroke
OMIM:601154	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:601154	FKTN	2218	HP:0004749	Atrial flutter
OMIM:601154	FKTN	2218	HP:0005110	Atrial fibrillation
OMIM:601154	FKTN	2218	HP:0001678	Atrioventricular block
OMIM:601154	FKTN	2218	HP:0011713	Left bundle branch block
OMIM:601154	FKTN	2218	HP:0001279	Syncope
OMIM:601154	FKTN	2218	HP:0006673	Reduced systolic function
OMIM:601154	FKTN	2218	HP:0011712	Right bundle branch block
OMIM:601154	FKTN	2218	HP:0001962	Palpitations
OMIM:601154	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:601154	FKTN	2218	HP:0001297	Stroke
OMIM:601154	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:601154	SGCD	6444	HP:0004749	Atrial flutter
OMIM:601154	SGCD	6444	HP:0005110	Atrial fibrillation
OMIM:601154	SGCD	6444	HP:0001678	Atrioventricular block
OMIM:601154	SGCD	6444	HP:0011713	Left bundle branch block
OMIM:601154	SGCD	6444	HP:0001279	Syncope
OMIM:601154	SGCD	6444	HP:0006673	Reduced systolic function
OMIM:601154	SGCD	6444	HP:0011712	Right bundle branch block
OMIM:601154	SGCD	6444	HP:0001962	Palpitations
OMIM:601154	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:601154	SGCD	6444	HP:0001297	Stroke
OMIM:601154	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:601154	TCAP	8557	HP:0004749	Atrial flutter
OMIM:601154	TCAP	8557	HP:0005110	Atrial fibrillation
OMIM:601154	TCAP	8557	HP:0001678	Atrioventricular block
OMIM:601154	TCAP	8557	HP:0011713	Left bundle branch block
OMIM:601154	TCAP	8557	HP:0001279	Syncope
OMIM:601154	TCAP	8557	HP:0006673	Reduced systolic function
OMIM:601154	TCAP	8557	HP:0011712	Right bundle branch block
OMIM:601154	TCAP	8557	HP:0001962	Palpitations
OMIM:601154	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:601154	TCAP	8557	HP:0001297	Stroke
OMIM:601154	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:601154	CSRP3	8048	HP:0004749	Atrial flutter
OMIM:601154	CSRP3	8048	HP:0005110	Atrial fibrillation
OMIM:601154	CSRP3	8048	HP:0001678	Atrioventricular block
OMIM:601154	CSRP3	8048	HP:0011713	Left bundle branch block
OMIM:601154	CSRP3	8048	HP:0001279	Syncope
OMIM:601154	CSRP3	8048	HP:0006673	Reduced systolic function
OMIM:601154	CSRP3	8048	HP:0011712	Right bundle branch block
OMIM:601154	CSRP3	8048	HP:0001962	Palpitations
OMIM:601154	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:601154	CSRP3	8048	HP:0001297	Stroke
OMIM:601154	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:601154	RBM20	282996	HP:0004749	Atrial flutter
OMIM:601154	RBM20	282996	HP:0005110	Atrial fibrillation
OMIM:601154	RBM20	282996	HP:0001678	Atrioventricular block
OMIM:601154	RBM20	282996	HP:0011713	Left bundle branch block
OMIM:601154	RBM20	282996	HP:0001279	Syncope
OMIM:601154	RBM20	282996	HP:0006673	Reduced systolic function
OMIM:601154	RBM20	282996	HP:0011712	Right bundle branch block
OMIM:601154	RBM20	282996	HP:0001962	Palpitations
OMIM:601154	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:601154	RBM20	282996	HP:0001297	Stroke
OMIM:601154	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:601154	SDHA	6389	HP:0004749	Atrial flutter
OMIM:601154	SDHA	6389	HP:0005110	Atrial fibrillation
OMIM:601154	SDHA	6389	HP:0001678	Atrioventricular block
OMIM:601154	SDHA	6389	HP:0011713	Left bundle branch block
OMIM:601154	SDHA	6389	HP:0001279	Syncope
OMIM:601154	SDHA	6389	HP:0006673	Reduced systolic function
OMIM:601154	SDHA	6389	HP:0011712	Right bundle branch block
OMIM:601154	SDHA	6389	HP:0001962	Palpitations
OMIM:601154	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:601154	SDHA	6389	HP:0001297	Stroke
OMIM:601154	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:601154	TAZ	6901	HP:0004749	Atrial flutter
OMIM:601154	TAZ	6901	HP:0005110	Atrial fibrillation
OMIM:601154	TAZ	6901	HP:0001678	Atrioventricular block
OMIM:601154	TAZ	6901	HP:0011713	Left bundle branch block
OMIM:601154	TAZ	6901	HP:0001279	Syncope
OMIM:601154	TAZ	6901	HP:0006673	Reduced systolic function
OMIM:601154	TAZ	6901	HP:0011712	Right bundle branch block
OMIM:601154	TAZ	6901	HP:0001962	Palpitations
OMIM:601154	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:601154	TAZ	6901	HP:0001297	Stroke
OMIM:601154	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:601154	VCL	7414	HP:0004749	Atrial flutter
OMIM:601154	VCL	7414	HP:0005110	Atrial fibrillation
OMIM:601154	VCL	7414	HP:0001678	Atrioventricular block
OMIM:601154	VCL	7414	HP:0011713	Left bundle branch block
OMIM:601154	VCL	7414	HP:0001279	Syncope
OMIM:601154	VCL	7414	HP:0006673	Reduced systolic function
OMIM:601154	VCL	7414	HP:0011712	Right bundle branch block
OMIM:601154	VCL	7414	HP:0001962	Palpitations
OMIM:601154	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:601154	VCL	7414	HP:0001297	Stroke
OMIM:601154	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:601154	MYPN	84665	HP:0004749	Atrial flutter
OMIM:601154	MYPN	84665	HP:0005110	Atrial fibrillation
OMIM:601154	MYPN	84665	HP:0001678	Atrioventricular block
OMIM:601154	MYPN	84665	HP:0011713	Left bundle branch block
OMIM:601154	MYPN	84665	HP:0001279	Syncope
OMIM:601154	MYPN	84665	HP:0006673	Reduced systolic function
OMIM:601154	MYPN	84665	HP:0011712	Right bundle branch block
OMIM:601154	MYPN	84665	HP:0001962	Palpitations
OMIM:601154	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:601154	MYPN	84665	HP:0001297	Stroke
OMIM:601154	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:601154	SCN5A	6331	HP:0004749	Atrial flutter
OMIM:601154	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:601154	SCN5A	6331	HP:0001678	Atrioventricular block
OMIM:601154	SCN5A	6331	HP:0011713	Left bundle branch block
OMIM:601154	SCN5A	6331	HP:0001279	Syncope
OMIM:601154	SCN5A	6331	HP:0006673	Reduced systolic function
OMIM:601154	SCN5A	6331	HP:0011712	Right bundle branch block
OMIM:601154	SCN5A	6331	HP:0001962	Palpitations
OMIM:601154	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:601154	SCN5A	6331	HP:0001297	Stroke
OMIM:601154	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:601154	BAG3	9531	HP:0004749	Atrial flutter
OMIM:601154	BAG3	9531	HP:0005110	Atrial fibrillation
OMIM:601154	BAG3	9531	HP:0001678	Atrioventricular block
OMIM:601154	BAG3	9531	HP:0011713	Left bundle branch block
OMIM:601154	BAG3	9531	HP:0001279	Syncope
OMIM:601154	BAG3	9531	HP:0006673	Reduced systolic function
OMIM:601154	BAG3	9531	HP:0011712	Right bundle branch block
OMIM:601154	BAG3	9531	HP:0001962	Palpitations
OMIM:601154	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:601154	BAG3	9531	HP:0001297	Stroke
OMIM:601154	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:601154	DOLK	22845	HP:0004749	Atrial flutter
OMIM:601154	DOLK	22845	HP:0005110	Atrial fibrillation
OMIM:601154	DOLK	22845	HP:0001678	Atrioventricular block
OMIM:601154	DOLK	22845	HP:0011713	Left bundle branch block
OMIM:601154	DOLK	22845	HP:0001279	Syncope
OMIM:601154	DOLK	22845	HP:0006673	Reduced systolic function
OMIM:601154	DOLK	22845	HP:0011712	Right bundle branch block
OMIM:601154	DOLK	22845	HP:0001962	Palpitations
OMIM:601154	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:601154	DOLK	22845	HP:0001297	Stroke
OMIM:601154	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:601154	MYBPC3	4607	HP:0004749	Atrial flutter
OMIM:601154	MYBPC3	4607	HP:0005110	Atrial fibrillation
OMIM:601154	MYBPC3	4607	HP:0001678	Atrioventricular block
OMIM:601154	MYBPC3	4607	HP:0011713	Left bundle branch block
OMIM:601154	MYBPC3	4607	HP:0001279	Syncope
OMIM:601154	MYBPC3	4607	HP:0006673	Reduced systolic function
OMIM:601154	MYBPC3	4607	HP:0011712	Right bundle branch block
OMIM:601154	MYBPC3	4607	HP:0001962	Palpitations
OMIM:601154	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:601154	MYBPC3	4607	HP:0001297	Stroke
OMIM:601154	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:202010	CYP11B1	1584	HP:0000822	Hypertension
OMIM:202010	CYP11B1	1584	HP:0000013	Hypoplasia of the uterus
OMIM:202010	CYP11B1	1584	HP:0000079	Abnormality of the urinary system
OMIM:202010	CYP11B1	1584	HP:0005616	Accelerated skeletal maturation
OMIM:202010	CYP11B1	1584	HP:0008734	Decreased testicular size
OMIM:202010	CYP11B1	1584	HP:0008726	Hypoplasia of the vagina
OMIM:202010	CYP11B1	1584	HP:0000007	Autosomal recessive inheritance
OMIM:202010	CYP11B1	1584	HP:0000057	Clitoromegaly
OMIM:202010	CYP11B1	1584	HP:0003623	Neonatal onset
OMIM:202010	CYP11B1	1584	HP:0004322	Short stature
OMIM:202010	CYP11B1	1584	HP:0000953	Hyperpigmentation of the skin
OMIM:202010	CYP11B1	1584	HP:0000040	Long penis
OMIM:312700	RS1	6247	HP:0000496	Abnormality of eye movement
OMIM:312700	RS1	6247	HP:0001105	Retinal atrophy
OMIM:312700	RS1	6247	HP:0000518	Cataract
OMIM:312700	RS1	6247	HP:0000567	Chorioretinal coloboma
OMIM:312700	RS1	6247	HP:0000533	Chorioretinal atrophy
OMIM:312700	RS1	6247	HP:0000529	Progressive visual loss
OMIM:312700	RS1	6247	HP:0007984	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
OMIM:312700	RS1	6247	HP:0001423	X-linked dominant inheritance
OMIM:312700	RS1	6247	HP:0000512	Abnormal electroretinogram
OMIM:312700	RS1	6247	HP:0000501	Glaucoma
OMIM:312700	RS1	6247	HP:0000541	Retinal detachment
OMIM:109150	ATXN3	4287	HP:0001272	Cerebellar atrophy
OMIM:109150	ATXN3	4287	HP:0000726	Dementia
OMIM:109150	ATXN3	4287	HP:0002380	Fasciculations
OMIM:109150	ATXN3	4287	HP:0002015	Dysphagia
OMIM:109150	ATXN3	4287	HP:0002078	Truncal ataxia
OMIM:109150	ATXN3	4287	HP:0000520	Proptosis
OMIM:109150	ATXN3	4287	HP:0001260	Dysarthria
OMIM:109150	ATXN3	4287	HP:0000508	Ptosis
OMIM:109150	ATXN3	4287	HP:0002063	Rigidity
OMIM:109150	ATXN3	4287	HP:0000006	Autosomal dominant inheritance
OMIM:109150	ATXN3	4287	HP:0002070	Limb ataxia
OMIM:109150	ATXN3	4287	HP:0002172	Postural instability
OMIM:109150	ATXN3	4287	HP:0002198	Dilated fourth ventricle
OMIM:109150	ATXN3	4287	HP:0002495	Impaired vibratory sensation
OMIM:109150	ATXN3	4287	HP:0001332	Dystonia
OMIM:109150	ATXN3	4287	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:109150	ATXN3	4287	HP:0001151	Impaired horizontal smooth pursuit
OMIM:109150	ATXN3	4287	HP:0001300	Parkinsonism
OMIM:109150	ATXN3	4287	HP:0002067	Bradykinesia
OMIM:109150	ATXN3	4287	HP:0002171	Gliosis
OMIM:109150	ATXN3	4287	HP:0001251	Ataxia
OMIM:109150	ATXN3	4287	HP:0003693	Distal amyotrophy
OMIM:109150	ATXN3	4287	HP:0003676	Progressive
OMIM:109150	ATXN3	4287	HP:0003487	Babinski sign
OMIM:109150	ATXN3	4287	HP:0001257	Spasticity
OMIM:109150	ATXN3	4287	HP:0003394	Muscle cramps
OMIM:109150	ATXN3	4287	HP:0000640	Gaze-evoked nystagmus
OMIM:109150	ATXN3	4287	HP:0000544	External ophthalmoplegia
OMIM:611913	SH2B1	25970	HP:0002353	EEG abnormality
OMIM:611913	SH2B1	25970	HP:0001513	Obesity
OMIM:611913	SH2B1	25970	HP:0001631	Atria septal defect
OMIM:611913	SH2B1	25970	HP:0000337	Broad forehead
OMIM:611913	SH2B1	25970	HP:0001646	Abnormality of the aortic valve
OMIM:611913	SH2B1	25970	HP:0000588	Optic nerve coloboma
OMIM:611913	SH2B1	25970	HP:0003422	Vertebral segmentation defect
OMIM:611913	SH2B1	25970	HP:0000256	Macrocephaly
OMIM:611913	SH2B1	25970	HP:0001250	Seizures
OMIM:611913	SH2B1	25970	HP:0007018	Attention deficit hyperactivity disorder
OMIM:611913	SH2B1	25970	HP:0000486	Strabismus
OMIM:611913	SH2B1	25970	HP:0002021	Pyloric stenosis
OMIM:611913	SH2B1	25970	HP:0000272	Malar flattening
OMIM:611913	SH2B1	25970	HP:0000347	Micrognathia
OMIM:611913	SH2B1	25970	HP:0002119	Ventriculomegaly
OMIM:611913	SH2B1	25970	HP:0002650	Scoliosis
OMIM:611913	SH2B1	25970	HP:0001161	Hand polydactyly
OMIM:611913	SH2B1	25970	HP:0000175	Cleft palate
OMIM:611913	SH2B1	25970	HP:0000545	Myopia
OMIM:611913	SH2B1	25970	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:611913	SH2B1	25970	HP:0001252	Muscular hypotonia
OMIM:611913	SH2B1	25970	HP:0000316	Hypertelorism
OMIM:611913	SH2B1	25970	HP:0000717	Autism
OMIM:611913	SH2B1	25970	HP:0000776	Congenital diaphragmatic hernia
OMIM:611913	SH2B1	25970	HP:0002167	Neurological speech impairment
OMIM:611913	SH2B1	25970	HP:0100543	Cognitive impairment
OMIM:300438	HSD17B10	3028	HP:0000407	Sensorineural hearing impairment
OMIM:300438	HSD17B10	3028	HP:0001250	Seizures
OMIM:300438	HSD17B10	3028	HP:0000711	Restlessness
OMIM:300438	HSD17B10	3028	HP:0000639	Nystagmus
OMIM:300438	HSD17B10	3028	HP:0001943	Hypoglycemia
OMIM:300438	HSD17B10	3028	HP:0002344	Progressive neurologic deterioration
OMIM:300438	HSD17B10	3028	HP:0003593	Infantile onset
OMIM:300438	HSD17B10	3028	HP:0000546	Retinal degeneration
OMIM:300438	HSD17B10	3028	HP:0001263	Global developmental delay
OMIM:300438	HSD17B10	3028	HP:0001423	X-linked dominant inheritance
OMIM:300438	HSD17B10	3028	HP:0000750	Delayed speech and language development
OMIM:300438	HSD17B10	3028	HP:0003128	Lactic acidosis
OMIM:300438	HSD17B10	3028	HP:0001249	Intellectual disability
OMIM:300438	HSD17B10	3028	HP:0001252	Muscular hypotonia
OMIM:300438	HSD17B10	3028	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300438	HSD17B10	3028	HP:0002376	Developmental regression
OMIM:300438	HSD17B10	3028	HP:0001266	Choreoathetosis
OMIM:300438	HSD17B10	3028	HP:0001942	Metabolic acidosis
OMIM:614940	EDAR	10913	HP:0000290	Abnormality of the forehead
OMIM:614940	EDAR	10913	HP:0006483	Abnormal number of teeth
OMIM:614940	EDAR	10913	HP:0000006	Autosomal dominant inheritance
OMIM:614940	EDAR	10913	HP:0000232	Everted lower lip vermilion
OMIM:614940	EDAR	10913	HP:0000970	Anhidrosis
OMIM:614940	EDAR	10913	HP:0008070	Sparse hair
OMIM:614940	EDAR	10913	HP:0000958	Dry skin
OMIM:614940	EDARADD	128178	HP:0000290	Abnormality of the forehead
OMIM:614940	EDARADD	128178	HP:0006483	Abnormal number of teeth
OMIM:614940	EDARADD	128178	HP:0000006	Autosomal dominant inheritance
OMIM:614940	EDARADD	128178	HP:0000232	Everted lower lip vermilion
OMIM:614940	EDARADD	128178	HP:0000970	Anhidrosis
OMIM:614940	EDARADD	128178	HP:0008070	Sparse hair
OMIM:614940	EDARADD	128178	HP:0000958	Dry skin
OMIM:614940	TRAF6	7189	HP:0000290	Abnormality of the forehead
OMIM:614940	TRAF6	7189	HP:0006483	Abnormal number of teeth
OMIM:614940	TRAF6	7189	HP:0000006	Autosomal dominant inheritance
OMIM:614940	TRAF6	7189	HP:0000232	Everted lower lip vermilion
OMIM:614940	TRAF6	7189	HP:0000970	Anhidrosis
OMIM:614940	TRAF6	7189	HP:0008070	Sparse hair
OMIM:614940	TRAF6	7189	HP:0000958	Dry skin
OMIM:616045	ATP5A1	498	HP:0000252	Microcephaly
OMIM:616045	ATP5A1	498	HP:0001298	Encephalopathy
OMIM:616045	ATP5A1	498	HP:0001511	Intrauterine growth retardation
OMIM:616045	ATP5A1	498	HP:0001635	Congestive heart failure
OMIM:616045	ATP5A1	498	HP:0001250	Seizures
OMIM:616045	ATP5A1	498	HP:0001508	Failure to thrive
OMIM:616045	ATP5A1	498	HP:0001252	Muscular hypotonia
OMIM:606937	ZNF592	9640	HP:0000951	Abnormality of the skin
OMIM:606937	ZNF592	9640	HP:0001371	Flexion contracture
OMIM:606937	ZNF592	9640	HP:0000252	Microcephaly
OMIM:606937	ZNF592	9640	HP:0004325	Decreased body weight
OMIM:606937	ZNF592	9640	HP:0000565	Esotropia
OMIM:606937	ZNF592	9640	HP:0002198	Dilated fourth ventricle
OMIM:606937	ZNF592	9640	HP:0003577	Congenital onset
OMIM:606937	ZNF592	9640	HP:0000020	Urinary incontinence
OMIM:606937	ZNF592	9640	HP:0001257	Spasticity
OMIM:606937	ZNF592	9640	HP:0001251	Ataxia
OMIM:606937	ZNF592	9640	HP:0006887	Intellectual disability, progressive
OMIM:606937	ZNF592	9640	HP:0011448	Ankle clonus
OMIM:606937	ZNF592	9640	HP:0001263	Global developmental delay
OMIM:606937	ZNF592	9640	HP:0000007	Autosomal recessive inheritance
OMIM:606937	ZNF592	9640	HP:0002607	Bowel incontinence
OMIM:606937	ZNF592	9640	HP:0001332	Dystonia
OMIM:606937	ZNF592	9640	HP:0003487	Babinski sign
OMIM:606937	ZNF592	9640	HP:0000648	Optic atrophy
OMIM:606937	ZNF592	9640	HP:0000657	Oculomotor apraxia
OMIM:606937	ZNF592	9640	HP:0002167	Neurological speech impairment
OMIM:606937	ZNF592	9640	HP:0010864	Intellectual disability, severe
OMIM:606937	ZNF592	9640	HP:0001272	Cerebellar atrophy
OMIM:606937	ZNF592	9640	HP:0003680	Nonprogressive
OMIM:606937	ZNF592	9640	HP:0002169	Clonus
OMIM:606937	ZNF592	9640	HP:0004322	Short stature
OMIM:606937	WDR73	84942	HP:0000951	Abnormality of the skin
OMIM:606937	WDR73	84942	HP:0001371	Flexion contracture
OMIM:606937	WDR73	84942	HP:0000252	Microcephaly
OMIM:606937	WDR73	84942	HP:0004325	Decreased body weight
OMIM:606937	WDR73	84942	HP:0000565	Esotropia
OMIM:606937	WDR73	84942	HP:0002198	Dilated fourth ventricle
OMIM:606937	WDR73	84942	HP:0003577	Congenital onset
OMIM:606937	WDR73	84942	HP:0000020	Urinary incontinence
OMIM:606937	WDR73	84942	HP:0001257	Spasticity
OMIM:606937	WDR73	84942	HP:0001251	Ataxia
OMIM:606937	WDR73	84942	HP:0006887	Intellectual disability, progressive
OMIM:606937	WDR73	84942	HP:0011448	Ankle clonus
OMIM:606937	WDR73	84942	HP:0001263	Global developmental delay
OMIM:606937	WDR73	84942	HP:0000007	Autosomal recessive inheritance
OMIM:606937	WDR73	84942	HP:0002607	Bowel incontinence
OMIM:606937	WDR73	84942	HP:0001332	Dystonia
OMIM:606937	WDR73	84942	HP:0003487	Babinski sign
OMIM:606937	WDR73	84942	HP:0000648	Optic atrophy
OMIM:606937	WDR73	84942	HP:0000657	Oculomotor apraxia
OMIM:606937	WDR73	84942	HP:0002167	Neurological speech impairment
OMIM:606937	WDR73	84942	HP:0010864	Intellectual disability, severe
OMIM:606937	WDR73	84942	HP:0001272	Cerebellar atrophy
OMIM:606937	WDR73	84942	HP:0003680	Nonprogressive
OMIM:606937	WDR73	84942	HP:0002169	Clonus
OMIM:606937	WDR73	84942	HP:0004322	Short stature
OMIM:611944	VEGFC	7424	HP:0003829	Incomplete penetrance
OMIM:611944	VEGFC	7424	HP:0000006	Autosomal dominant inheritance
OMIM:611944	VEGFC	7424	HP:0001004	Lymphedema
OMIM:611944	FLT4	2324	HP:0003829	Incomplete penetrance
OMIM:611944	FLT4	2324	HP:0000006	Autosomal dominant inheritance
OMIM:611944	FLT4	2324	HP:0001004	Lymphedema
OMIM:611944	GJC2	57165	HP:0003829	Incomplete penetrance
OMIM:611944	GJC2	57165	HP:0000006	Autosomal dominant inheritance
OMIM:611944	GJC2	57165	HP:0001004	Lymphedema
OMIM:600920	SCARF2	91179	HP:0000767	Pectus excavatum
OMIM:600920	SCARF2	91179	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:600920	SCARF2	91179	HP:0006482	Abnormality of dental morphology
OMIM:600920	SCARF2	91179	HP:0000272	Malar flattening
OMIM:600920	SCARF2	91179	HP:0000400	Macrotia
OMIM:600920	SCARF2	91179	HP:0000534	Abnormality of the eyebrow
OMIM:600920	SCARF2	91179	HP:0005280	Depressed nasal bridge
OMIM:600920	SCARF2	91179	HP:0002750	Delayed skeletal maturation
OMIM:600920	SCARF2	91179	HP:0000175	Cleft palate
OMIM:600920	SCARF2	91179	HP:0000772	Abnormality of the ribs
OMIM:600920	SCARF2	91179	HP:0001883	Talipes
OMIM:600920	SCARF2	91179	HP:0009473	Joint contracture of the hand
OMIM:600920	SCARF2	91179	HP:0000430	Underdeveloped nasal alae
OMIM:600920	SCARF2	91179	HP:0001601	Laryngomalacia
OMIM:600920	SCARF2	91179	HP:0003100	Slender long bone
OMIM:600920	SCARF2	91179	HP:0002980	Femoral bowing
OMIM:600920	SCARF2	91179	HP:0000327	Hypoplasia of the maxilla
OMIM:600920	SCARF2	91179	HP:0000647	Sclerocornea
OMIM:600920	SCARF2	91179	HP:0000316	Hypertelorism
OMIM:600920	SCARF2	91179	HP:0000446	Narrow nasal bridge
OMIM:600920	SCARF2	91179	HP:0006487	Bowing of the long bones
OMIM:600920	SCARF2	91179	HP:0001822	Hallux valgus
OMIM:600920	SCARF2	91179	HP:0003083	Dislocated radial head
OMIM:600920	SCARF2	91179	HP:0004209	Clinodactyly of the 5th finger
OMIM:600920	SCARF2	91179	HP:0000444	Convex nasal ridge
OMIM:600920	SCARF2	91179	HP:0002987	Elbow flexion contracture
OMIM:600920	SCARF2	91179	HP:0000232	Everted lower lip vermilion
OMIM:600920	SCARF2	91179	HP:0001786	Narrow foot
OMIM:600920	SCARF2	91179	HP:0000581	Blepharophimosis
OMIM:600920	SCARF2	91179	HP:0001363	Craniosynostosis
OMIM:600920	SCARF2	91179	HP:0000218	High palate
OMIM:600920	SCARF2	91179	HP:0000678	Dental crowding
OMIM:600920	SCARF2	91179	HP:0001166	Arachnodactyly
OMIM:600920	SCARF2	91179	HP:0003042	Elbow dislocation
OMIM:600920	SCARF2	91179	HP:0010511	Long toe
OMIM:600920	SCARF2	91179	HP:0100490	Camptodactyly of finger
OMIM:600920	SCARF2	91179	HP:0006380	Knee flexion contracture
OMIM:600920	SCARF2	91179	HP:0001199	Triphalangeal thumb
OMIM:600920	SCARF2	91179	HP:0001376	Limitation of joint mobility
OMIM:600920	SCARF2	91179	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:600920	SCARF2	91179	HP:0000007	Autosomal recessive inheritance
OMIM:600920	SCARF2	91179	HP:0000411	Protruding ear
OMIM:600920	SCARF2	91179	HP:0001762	Talipes equinovarus
OMIM:612423	KLKB1	3818	HP:0000007	Autosomal recessive inheritance
OMIM:615842	ZMYND15	84225	HP:0000027	Azoospermia
OMIM:615842	NR5A1	2516	HP:0000027	Azoospermia
OMIM:615842	CFTR	1080	HP:0000027	Azoospermia
OMIM:615842	NANOS1	340719	HP:0000027	Azoospermia
OMIM:615842	SOHLH1	402381	HP:0000027	Azoospermia
OMIM:615842	TAF4B	6875	HP:0000027	Azoospermia
OMIM:615842	TEX11	56159	HP:0000027	Azoospermia
OMIM:300582	SHOX	6473	HP:0001417	X-linked inheritance
OMIM:300582	SHOX	6473	HP:0004322	Short stature
OMIM:121850	PIKFYVE	200576	HP:0000613	Photophobia
OMIM:121850	PIKFYVE	200576	HP:0000006	Autosomal dominant inheritance
OMIM:192600	MYH7	4625	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:192600	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:192600	MYH7	4625	HP:0011675	Arrhythmia
OMIM:192600	MYH7	4625	HP:0001682	Subaortic stenosis
OMIM:192600	MYH7	4625	HP:0001699	Sudden death
OMIM:192600	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:192600	MYH7	4625	HP:0001670	Asymmetric septal hypertrophy
OMIM:192600	MYLK2	85366	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:192600	MYLK2	85366	HP:0000006	Autosomal dominant inheritance
OMIM:192600	MYLK2	85366	HP:0011675	Arrhythmia
OMIM:192600	MYLK2	85366	HP:0001682	Subaortic stenosis
OMIM:192600	MYLK2	85366	HP:0001699	Sudden death
OMIM:192600	MYLK2	85366	HP:0001635	Congestive heart failure
OMIM:192600	MYLK2	85366	HP:0001670	Asymmetric septal hypertrophy
OMIM:192600	CAV3	859	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:192600	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:192600	CAV3	859	HP:0011675	Arrhythmia
OMIM:192600	CAV3	859	HP:0001682	Subaortic stenosis
OMIM:192600	CAV3	859	HP:0001699	Sudden death
OMIM:192600	CAV3	859	HP:0001635	Congestive heart failure
OMIM:192600	CAV3	859	HP:0001670	Asymmetric septal hypertrophy
OMIM:615559	FAS	355	HP:0001744	Splenomegaly
OMIM:615559	FAS	355	HP:0002719	Recurrent infections
OMIM:615559	FAS	355	HP:0003593	Infantile onset
OMIM:615559	FAS	355	HP:0002716	Lymphadenopathy
OMIM:615559	FAS	355	HP:0000100	Nephrotic syndrome
OMIM:615559	FAS	355	HP:0002829	Arthralgia
OMIM:615559	FAS	355	HP:0002240	Hepatomegaly
OMIM:615559	FAS	355	HP:0000007	Autosomal recessive inheritance
OMIM:615559	FASLG	356	HP:0001744	Splenomegaly
OMIM:615559	FASLG	356	HP:0002719	Recurrent infections
OMIM:615559	FASLG	356	HP:0003593	Infantile onset
OMIM:615559	FASLG	356	HP:0002716	Lymphadenopathy
OMIM:615559	FASLG	356	HP:0000100	Nephrotic syndrome
OMIM:615559	FASLG	356	HP:0002829	Arthralgia
OMIM:615559	FASLG	356	HP:0002240	Hepatomegaly
OMIM:615559	FASLG	356	HP:0000007	Autosomal recessive inheritance
OMIM:615559	CASP10	843	HP:0001744	Splenomegaly
OMIM:615559	CASP10	843	HP:0002719	Recurrent infections
OMIM:615559	CASP10	843	HP:0003593	Infantile onset
OMIM:615559	CASP10	843	HP:0002716	Lymphadenopathy
OMIM:615559	CASP10	843	HP:0000100	Nephrotic syndrome
OMIM:615559	CASP10	843	HP:0002829	Arthralgia
OMIM:615559	CASP10	843	HP:0002240	Hepatomegaly
OMIM:615559	CASP10	843	HP:0000007	Autosomal recessive inheritance
OMIM:615559	PRKCD	5580	HP:0001744	Splenomegaly
OMIM:615559	PRKCD	5580	HP:0002719	Recurrent infections
OMIM:615559	PRKCD	5580	HP:0003593	Infantile onset
OMIM:615559	PRKCD	5580	HP:0002716	Lymphadenopathy
OMIM:615559	PRKCD	5580	HP:0000100	Nephrotic syndrome
OMIM:615559	PRKCD	5580	HP:0002829	Arthralgia
OMIM:615559	PRKCD	5580	HP:0002240	Hepatomegaly
OMIM:615559	PRKCD	5580	HP:0000007	Autosomal recessive inheritance
OMIM:611521	TYK2	7297	HP:0000007	Autosomal recessive inheritance
OMIM:611521	TYK2	7297	HP:0002721	Immunodeficiency
OMIM:611521	TYK2	7297	HP:0004429	Recurrent viral infections
OMIM:611521	TYK2	7297	HP:0002205	Recurrent respiratory infections
OMIM:611521	TYK2	7297	HP:0002841	Recurrent fungal infections
OMIM:611521	TYK2	7297	HP:0011274	Recurrent mycobacterial infections
OMIM:611521	DOCK8	81704	HP:0000007	Autosomal recessive inheritance
OMIM:611521	DOCK8	81704	HP:0002721	Immunodeficiency
OMIM:611521	DOCK8	81704	HP:0004429	Recurrent viral infections
OMIM:611521	DOCK8	81704	HP:0002205	Recurrent respiratory infections
OMIM:611521	DOCK8	81704	HP:0002841	Recurrent fungal infections
OMIM:611521	DOCK8	81704	HP:0011274	Recurrent mycobacterial infections
OMIM:221750	LHX3	8022	HP:0000407	Sensorineural hearing impairment
OMIM:221750	LHX3	8022	HP:0000824	Growth hormone deficiency
OMIM:221750	LHX3	8022	HP:0000007	Autosomal recessive inheritance
OMIM:221750	LHX3	8022	HP:0001249	Intellectual disability
OMIM:221750	LHX3	8022	HP:0000470	Short neck
OMIM:221750	LHX3	8022	HP:0004322	Short stature
OMIM:221750	LHX3	8022	HP:0000078	Abnormality of the genital system
OMIM:616321	MUSK	4593	HP:0002093	Respiratory insufficiency
OMIM:616321	MUSK	4593	HP:0001252	Muscular hypotonia
OMIM:616321	MUSK	4593	HP:0003324	Generalized muscle weakness
OMIM:616321	MUSK	4593	HP:0000508	Ptosis
OMIM:616321	MUSK	4593	HP:0002540	Inability to walk
OMIM:616321	MUSK	4593	HP:0002015	Dysphagia
OMIM:616321	CHRNB1	1140	HP:0002093	Respiratory insufficiency
OMIM:616321	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:616321	CHRNB1	1140	HP:0003324	Generalized muscle weakness
OMIM:616321	CHRNB1	1140	HP:0000508	Ptosis
OMIM:616321	CHRNB1	1140	HP:0002540	Inability to walk
OMIM:616321	CHRNB1	1140	HP:0002015	Dysphagia
OMIM:616321	DOK7	285489	HP:0002093	Respiratory insufficiency
OMIM:616321	DOK7	285489	HP:0001252	Muscular hypotonia
OMIM:616321	DOK7	285489	HP:0003324	Generalized muscle weakness
OMIM:616321	DOK7	285489	HP:0000508	Ptosis
OMIM:616321	DOK7	285489	HP:0002540	Inability to walk
OMIM:616321	DOK7	285489	HP:0002015	Dysphagia
OMIM:616321	LRP4	4038	HP:0002093	Respiratory insufficiency
OMIM:616321	LRP4	4038	HP:0001252	Muscular hypotonia
OMIM:616321	LRP4	4038	HP:0003324	Generalized muscle weakness
OMIM:616321	LRP4	4038	HP:0000508	Ptosis
OMIM:616321	LRP4	4038	HP:0002540	Inability to walk
OMIM:616321	LRP4	4038	HP:0002015	Dysphagia
OMIM:616321	CHRND	1144	HP:0002093	Respiratory insufficiency
OMIM:616321	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:616321	CHRND	1144	HP:0003324	Generalized muscle weakness
OMIM:616321	CHRND	1144	HP:0000508	Ptosis
OMIM:616321	CHRND	1144	HP:0002540	Inability to walk
OMIM:616321	CHRND	1144	HP:0002015	Dysphagia
OMIM:616321	RAPSN	5913	HP:0002093	Respiratory insufficiency
OMIM:616321	RAPSN	5913	HP:0001252	Muscular hypotonia
OMIM:616321	RAPSN	5913	HP:0003324	Generalized muscle weakness
OMIM:616321	RAPSN	5913	HP:0000508	Ptosis
OMIM:616321	RAPSN	5913	HP:0002540	Inability to walk
OMIM:616321	RAPSN	5913	HP:0002015	Dysphagia
OMIM:616321	SCN4A	6329	HP:0002093	Respiratory insufficiency
OMIM:616321	SCN4A	6329	HP:0001252	Muscular hypotonia
OMIM:616321	SCN4A	6329	HP:0003324	Generalized muscle weakness
OMIM:616321	SCN4A	6329	HP:0000508	Ptosis
OMIM:616321	SCN4A	6329	HP:0002540	Inability to walk
OMIM:616321	SCN4A	6329	HP:0002015	Dysphagia
OMIM:616321	CHRNE	1145	HP:0002093	Respiratory insufficiency
OMIM:616321	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:616321	CHRNE	1145	HP:0003324	Generalized muscle weakness
OMIM:616321	CHRNE	1145	HP:0000508	Ptosis
OMIM:616321	CHRNE	1145	HP:0002540	Inability to walk
OMIM:616321	CHRNE	1145	HP:0002015	Dysphagia
OMIM:616321	AGRN	375790	HP:0002093	Respiratory insufficiency
OMIM:616321	AGRN	375790	HP:0001252	Muscular hypotonia
OMIM:616321	AGRN	375790	HP:0003324	Generalized muscle weakness
OMIM:616321	AGRN	375790	HP:0000508	Ptosis
OMIM:616321	AGRN	375790	HP:0002540	Inability to walk
OMIM:616321	AGRN	375790	HP:0002015	Dysphagia
OMIM:616321	CHRNA1	1134	HP:0002093	Respiratory insufficiency
OMIM:616321	CHRNA1	1134	HP:0001252	Muscular hypotonia
OMIM:616321	CHRNA1	1134	HP:0003324	Generalized muscle weakness
OMIM:616321	CHRNA1	1134	HP:0000508	Ptosis
OMIM:616321	CHRNA1	1134	HP:0002540	Inability to walk
OMIM:616321	CHRNA1	1134	HP:0002015	Dysphagia
ORPHANET:2268	ZBTB24	9841	HP:0002205	Recurrent respiratory infections
ORPHANET:2268	ZBTB24	9841	HP:0002024	Malabsorption
ORPHANET:2268	ZBTB24	9841	HP:0000316	Hypertelorism
ORPHANET:2268	ZBTB24	9841	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2268	ZBTB24	9841	HP:0001874	Abnormality of neutrophils
ORPHANET:2268	ZBTB24	9841	HP:0100543	Cognitive impairment
ORPHANET:2268	ZBTB24	9841	HP:0000157	Abnormality of the tongue
ORPHANET:2268	ZBTB24	9841	HP:0004313	Decreased antibody level in blood
ORPHANET:2268	ZBTB24	9841	HP:0000272	Malar flattening
ORPHANET:2268	ZBTB24	9841	HP:0005280	Depressed nasal bridge
ORPHANET:2268	ZBTB24	9841	HP:0000256	Macrocephaly
ORPHANET:2268	ZBTB24	9841	HP:0000286	Epicanthus
ORPHANET:2268	ZBTB24	9841	HP:0004322	Short stature
ORPHANET:2268	ZBTB24	9841	HP:0001903	Anemia
ORPHANET:2268	ZBTB24	9841	HP:0005374	Cellular immunodeficiency
ORPHANET:2268	ZBTB24	9841	HP:0000347	Micrognathia
ORPHANET:2268	ZBTB24	9841	HP:0001537	Umbilical hernia
ORPHANET:2268	CDCA7	83879	HP:0002205	Recurrent respiratory infections
ORPHANET:2268	CDCA7	83879	HP:0002024	Malabsorption
ORPHANET:2268	CDCA7	83879	HP:0000316	Hypertelorism
ORPHANET:2268	CDCA7	83879	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2268	CDCA7	83879	HP:0001874	Abnormality of neutrophils
ORPHANET:2268	CDCA7	83879	HP:0100543	Cognitive impairment
ORPHANET:2268	CDCA7	83879	HP:0000157	Abnormality of the tongue
ORPHANET:2268	CDCA7	83879	HP:0004313	Decreased antibody level in blood
ORPHANET:2268	CDCA7	83879	HP:0000272	Malar flattening
ORPHANET:2268	CDCA7	83879	HP:0005280	Depressed nasal bridge
ORPHANET:2268	CDCA7	83879	HP:0000256	Macrocephaly
ORPHANET:2268	CDCA7	83879	HP:0000286	Epicanthus
ORPHANET:2268	CDCA7	83879	HP:0004322	Short stature
ORPHANET:2268	CDCA7	83879	HP:0001903	Anemia
ORPHANET:2268	CDCA7	83879	HP:0005374	Cellular immunodeficiency
ORPHANET:2268	CDCA7	83879	HP:0000347	Micrognathia
ORPHANET:2268	CDCA7	83879	HP:0001537	Umbilical hernia
ORPHANET:2268	DNMT3B	1789	HP:0002205	Recurrent respiratory infections
ORPHANET:2268	DNMT3B	1789	HP:0002024	Malabsorption
ORPHANET:2268	DNMT3B	1789	HP:0000316	Hypertelorism
ORPHANET:2268	DNMT3B	1789	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2268	DNMT3B	1789	HP:0001874	Abnormality of neutrophils
ORPHANET:2268	DNMT3B	1789	HP:0100543	Cognitive impairment
ORPHANET:2268	DNMT3B	1789	HP:0000157	Abnormality of the tongue
ORPHANET:2268	DNMT3B	1789	HP:0004313	Decreased antibody level in blood
ORPHANET:2268	DNMT3B	1789	HP:0000272	Malar flattening
ORPHANET:2268	DNMT3B	1789	HP:0005280	Depressed nasal bridge
ORPHANET:2268	DNMT3B	1789	HP:0000256	Macrocephaly
ORPHANET:2268	DNMT3B	1789	HP:0000286	Epicanthus
ORPHANET:2268	DNMT3B	1789	HP:0004322	Short stature
ORPHANET:2268	DNMT3B	1789	HP:0001903	Anemia
ORPHANET:2268	DNMT3B	1789	HP:0005374	Cellular immunodeficiency
ORPHANET:2268	DNMT3B	1789	HP:0000347	Micrognathia
ORPHANET:2268	DNMT3B	1789	HP:0001537	Umbilical hernia
ORPHANET:2268	HELLS	3070	HP:0002205	Recurrent respiratory infections
ORPHANET:2268	HELLS	3070	HP:0002024	Malabsorption
ORPHANET:2268	HELLS	3070	HP:0000316	Hypertelorism
ORPHANET:2268	HELLS	3070	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2268	HELLS	3070	HP:0001874	Abnormality of neutrophils
ORPHANET:2268	HELLS	3070	HP:0100543	Cognitive impairment
ORPHANET:2268	HELLS	3070	HP:0000157	Abnormality of the tongue
ORPHANET:2268	HELLS	3070	HP:0004313	Decreased antibody level in blood
ORPHANET:2268	HELLS	3070	HP:0000272	Malar flattening
ORPHANET:2268	HELLS	3070	HP:0005280	Depressed nasal bridge
ORPHANET:2268	HELLS	3070	HP:0000256	Macrocephaly
ORPHANET:2268	HELLS	3070	HP:0000286	Epicanthus
ORPHANET:2268	HELLS	3070	HP:0004322	Short stature
ORPHANET:2268	HELLS	3070	HP:0001903	Anemia
ORPHANET:2268	HELLS	3070	HP:0005374	Cellular immunodeficiency
ORPHANET:2268	HELLS	3070	HP:0000347	Micrognathia
ORPHANET:2268	HELLS	3070	HP:0001537	Umbilical hernia
OMIM:115650	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:115650	EPHA2	1969	HP:0000006	Autosomal dominant inheritance
OMIM:115650	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:115650	CHMP4B	128866	HP:0000006	Autosomal dominant inheritance
OMIM:115650	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:115650	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:115650	CRYBB3	1417	HP:0000006	Autosomal dominant inheritance
OMIM:115650	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:115650	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:115650	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:115650	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:115650	PITX3	5309	HP:0000006	Autosomal dominant inheritance
OMIM:177170	COMP	1311	HP:0002857	Genu valgum
OMIM:177170	COMP	1311	HP:0000926	Platyspondyly
OMIM:177170	COMP	1311	HP:0002650	Scoliosis
OMIM:177170	COMP	1311	HP:0001831	Short toe
OMIM:177170	COMP	1311	HP:0003311	Hypoplasia of the odontoid process
OMIM:177170	COMP	1311	HP:0002938	Lumbar hyperlordosis
OMIM:177170	COMP	1311	HP:0001156	Brachydactyly syndrome
OMIM:177170	COMP	1311	HP:0002750	Delayed skeletal maturation
OMIM:177170	COMP	1311	HP:0001382	Joint hypermobility
OMIM:177170	COMP	1311	HP:0002808	Kyphosis
OMIM:177170	COMP	1311	HP:0002663	Delayed epiphyseal ossification
OMIM:177170	COMP	1311	HP:0002758	Osteoarthritis
OMIM:177170	COMP	1311	HP:0001163	Abnormality of the metacarpal bones
OMIM:177170	COMP	1311	HP:0001388	Joint laxity
OMIM:177170	COMP	1311	HP:0001376	Limitation of joint mobility
OMIM:177170	COMP	1311	HP:0008873	Disproportionate short-limb short stature
OMIM:177170	COMP	1311	HP:0002970	Genu varum
OMIM:177170	COMP	1311	HP:0000944	Abnormality of the metaphyses
OMIM:177170	COMP	1311	HP:0010049	Short metacarpal
OMIM:177170	COMP	1311	HP:0002983	Micromelia
OMIM:177170	COMP	1311	HP:0001498	Carpal bone hypoplasia
OMIM:177170	COMP	1311	HP:0002816	Genu recurvatum
OMIM:177170	COMP	1311	HP:0002829	Arthralgia
OMIM:177170	COMP	1311	HP:0002515	Waddling gait
OMIM:177170	COMP	1311	HP:0009882	Short distal phalanx of finger
OMIM:177170	COMP	1311	HP:0003026	Short long bone
OMIM:177170	COMP	1311	HP:0003307	Hyperlordosis
OMIM:177170	COMP	1311	HP:0001288	Gait disturbance
OMIM:177170	COMP	1311	HP:0003272	Abnormality of the hip bone
OMIM:177170	COMP	1311	HP:0000006	Autosomal dominant inheritance
OMIM:177170	COMP	1311	HP:0000763	Sensory neuropathy
OMIM:176400	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:176400	KISS1R	84634	HP:0004322	Short stature
OMIM:176400	KISS1R	84634	HP:0000821	Hypothyroidism
OMIM:614035	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:614035	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:614035	BSND	7809	HP:0000365	Hearing impairment
OMIM:614035	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:614035	ESPN	83715	HP:0000365	Hearing impairment
OMIM:614035	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:614035	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:614035	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:614035	OTOA	146183	HP:0000365	Hearing impairment
OMIM:614035	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:614035	GJA1	2697	HP:0000365	Hearing impairment
OMIM:614035	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:614035	MET	4233	HP:0000365	Hearing impairment
OMIM:614035	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:614035	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:614035	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:614035	HGF	3082	HP:0000365	Hearing impairment
OMIM:614035	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:614035	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:614035	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:614035	EPS8	2059	HP:0000365	Hearing impairment
OMIM:614035	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:614035	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:614035	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:614035	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:614035	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:614035	GJB2	2706	HP:0000365	Hearing impairment
OMIM:614035	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:614035	GJB3	2707	HP:0000365	Hearing impairment
OMIM:614035	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:614035	CABP2	51475	HP:0000365	Hearing impairment
OMIM:614035	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:614035	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:614035	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:614035	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:614035	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:614035	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:614035	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:614035	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614035	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614035	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:614035	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:614035	KARS	3735	HP:0000365	Hearing impairment
OMIM:614035	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:614035	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:614035	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:614035	TMC1	117531	HP:0000365	Hearing impairment
OMIM:614035	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:614035	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:614035	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:614035	OTOF	9381	HP:0000365	Hearing impairment
OMIM:614035	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:614035	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614035	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614035	TMIE	259236	HP:0000365	Hearing impairment
OMIM:614035	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:614035	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:614035	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:614035	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:614035	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:614035	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:614035	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:614035	TPRN	286262	HP:0000365	Hearing impairment
OMIM:614035	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:614035	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:614035	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:614035	GJB6	10804	HP:0000365	Hearing impairment
OMIM:614035	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:614035	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:614035	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:614035	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:614035	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:614035	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:614035	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:614035	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:614035	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:614035	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614035	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614035	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:614035	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:614035	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:614035	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:614035	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:614035	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:614035	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:614035	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:614035	CDH23	64072	HP:0000365	Hearing impairment
OMIM:614035	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:614035	RDX	5962	HP:0000365	Hearing impairment
OMIM:614035	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:614035	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:614035	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:614035	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:614035	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:614035	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:614035	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:614035	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:614035	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:614035	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:614035	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:614035	STRC	161497	HP:0000365	Hearing impairment
OMIM:614035	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:614035	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:614035	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614035	TECTA	7007	HP:0000365	Hearing impairment
OMIM:614035	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:614035	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:614035	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:614035	USH1C	10083	HP:0000365	Hearing impairment
OMIM:614035	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:614035	ADCY1	107	HP:0000365	Hearing impairment
OMIM:614035	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:614035	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:614035	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:614035	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:614035	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:614035	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:614035	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:614035	OTOG	340990	HP:0000365	Hearing impairment
OMIM:614035	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:608978	WT1	7490	HP:0001679	Abnormality of the aorta
OMIM:608978	WT1	7490	HP:0002101	Abnormal lung lobation
OMIM:608978	WT1	7490	HP:0001629	Ventricular septal defect
OMIM:608978	WT1	7490	HP:0001636	Tetralogy of Fallot
OMIM:608978	WT1	7490	HP:0000062	Ambiguous genitalia
OMIM:608978	WT1	7490	HP:0008736	Hypoplasia of penis
OMIM:608978	WT1	7490	HP:0001669	Transposition of the great arteries
OMIM:608978	WT1	7490	HP:0000142	Abnormality of the vagina
OMIM:608978	WT1	7490	HP:0100542	Abnormal localization of kidney
OMIM:608978	WT1	7490	HP:0000028	Cryptorchidism
OMIM:608978	WT1	7490	HP:0001643	Patent ductus arteriosus
OMIM:608978	WT1	7490	HP:0001696	Situs inversus totalis
OMIM:608978	WT1	7490	HP:0000776	Congenital diaphragmatic hernia
OMIM:608978	WT1	7490	HP:0001631	Atria septal defect
OMIM:608978	WT1	7490	HP:0001743	Abnormality of the spleen
OMIM:608978	WT1	7490	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:608978	WT1	7490	HP:0004383	Hypoplastic left heart
OMIM:606545	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:606545	ALOXE3	59344	HP:0012472	Eclabion
OMIM:606545	ALOXE3	59344	HP:0000962	Hyperkeratosis
OMIM:606545	ALOXE3	59344	HP:0000966	Hypohidrosis
OMIM:606545	ALOX12B	242	HP:0000007	Autosomal recessive inheritance
OMIM:606545	ALOX12B	242	HP:0012472	Eclabion
OMIM:606545	ALOX12B	242	HP:0000962	Hyperkeratosis
OMIM:606545	ALOX12B	242	HP:0000966	Hypohidrosis
OMIM:606545	LIPN	643418	HP:0000007	Autosomal recessive inheritance
OMIM:606545	LIPN	643418	HP:0012472	Eclabion
OMIM:606545	LIPN	643418	HP:0000962	Hyperkeratosis
OMIM:606545	LIPN	643418	HP:0000966	Hypohidrosis
OMIM:606545	CERS3	204219	HP:0000007	Autosomal recessive inheritance
OMIM:606545	CERS3	204219	HP:0012472	Eclabion
OMIM:606545	CERS3	204219	HP:0000962	Hyperkeratosis
OMIM:606545	CERS3	204219	HP:0000966	Hypohidrosis
OMIM:606545	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:606545	ABCA12	26154	HP:0012472	Eclabion
OMIM:606545	ABCA12	26154	HP:0000962	Hyperkeratosis
OMIM:606545	ABCA12	26154	HP:0000966	Hypohidrosis
OMIM:606545	TGM1	7051	HP:0000007	Autosomal recessive inheritance
OMIM:606545	TGM1	7051	HP:0012472	Eclabion
OMIM:606545	TGM1	7051	HP:0000962	Hyperkeratosis
OMIM:606545	TGM1	7051	HP:0000966	Hypohidrosis
OMIM:606545	CYP4F22	126410	HP:0000007	Autosomal recessive inheritance
OMIM:606545	CYP4F22	126410	HP:0012472	Eclabion
OMIM:606545	CYP4F22	126410	HP:0000962	Hyperkeratosis
OMIM:606545	CYP4F22	126410	HP:0000966	Hypohidrosis
OMIM:606545	PNPLA1	285848	HP:0000007	Autosomal recessive inheritance
OMIM:606545	PNPLA1	285848	HP:0012472	Eclabion
OMIM:606545	PNPLA1	285848	HP:0000962	Hyperkeratosis
OMIM:606545	PNPLA1	285848	HP:0000966	Hypohidrosis
OMIM:606545	NIPAL4	348938	HP:0000007	Autosomal recessive inheritance
OMIM:606545	NIPAL4	348938	HP:0012472	Eclabion
OMIM:606545	NIPAL4	348938	HP:0000962	Hyperkeratosis
OMIM:606545	NIPAL4	348938	HP:0000966	Hypohidrosis
ORPHANET:2518	TUBGCP6	85378	HP:0000307	Pointed chin
ORPHANET:2518	TUBGCP6	85378	HP:0000377	Abnormality of the pinna
ORPHANET:2518	TUBGCP6	85378	HP:0002120	Cerebral cortical atrophy
ORPHANET:2518	TUBGCP6	85378	HP:0000639	Nystagmus
ORPHANET:2518	TUBGCP6	85378	HP:0002269	Abnormality of neuronal migration
ORPHANET:2518	TUBGCP6	85378	HP:0001276	Hypertonia
ORPHANET:2518	TUBGCP6	85378	HP:0000499	Abnormality of the eyelashes
ORPHANET:2518	TUBGCP6	85378	HP:0004322	Short stature
ORPHANET:2518	TUBGCP6	85378	HP:0000463	Anteverted nares
ORPHANET:2518	TUBGCP6	85378	HP:0002650	Scoliosis
ORPHANET:2518	TUBGCP6	85378	HP:0000341	Narrow forehead
ORPHANET:2518	TUBGCP6	85378	HP:0000340	Sloping forehead
ORPHANET:2518	TUBGCP6	85378	HP:0000505	Visual impairment
ORPHANET:2518	TUBGCP6	85378	HP:0001511	Intrauterine growth retardation
ORPHANET:2518	TUBGCP6	85378	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2518	TUBGCP6	85378	HP:0000648	Optic atrophy
ORPHANET:2518	TUBGCP6	85378	HP:0000252	Microcephaly
ORPHANET:2518	TUBGCP6	85378	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:2518	TUBGCP6	85378	HP:0100543	Cognitive impairment
ORPHANET:2518	TUBGCP6	85378	HP:0000486	Strabismus
ORPHANET:2518	TUBGCP6	85378	HP:0001250	Seizures
ORPHANET:2518	TUBGCP4	27229	HP:0000307	Pointed chin
ORPHANET:2518	TUBGCP4	27229	HP:0000377	Abnormality of the pinna
ORPHANET:2518	TUBGCP4	27229	HP:0002120	Cerebral cortical atrophy
ORPHANET:2518	TUBGCP4	27229	HP:0000639	Nystagmus
ORPHANET:2518	TUBGCP4	27229	HP:0002269	Abnormality of neuronal migration
ORPHANET:2518	TUBGCP4	27229	HP:0001276	Hypertonia
ORPHANET:2518	TUBGCP4	27229	HP:0000499	Abnormality of the eyelashes
ORPHANET:2518	TUBGCP4	27229	HP:0004322	Short stature
ORPHANET:2518	TUBGCP4	27229	HP:0000463	Anteverted nares
ORPHANET:2518	TUBGCP4	27229	HP:0002650	Scoliosis
ORPHANET:2518	TUBGCP4	27229	HP:0000341	Narrow forehead
ORPHANET:2518	TUBGCP4	27229	HP:0000340	Sloping forehead
ORPHANET:2518	TUBGCP4	27229	HP:0000505	Visual impairment
ORPHANET:2518	TUBGCP4	27229	HP:0001511	Intrauterine growth retardation
ORPHANET:2518	TUBGCP4	27229	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2518	TUBGCP4	27229	HP:0000648	Optic atrophy
ORPHANET:2518	TUBGCP4	27229	HP:0000252	Microcephaly
ORPHANET:2518	TUBGCP4	27229	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:2518	TUBGCP4	27229	HP:0100543	Cognitive impairment
ORPHANET:2518	TUBGCP4	27229	HP:0000486	Strabismus
ORPHANET:2518	TUBGCP4	27229	HP:0001250	Seizures
OMIM:611637	FIG4	9896	HP:0002127	Abnormal upper motor neuron morphology
OMIM:611637	FIG4	9896	HP:0003581	Adult onset
OMIM:611637	FIG4	9896	HP:0002015	Dysphagia
OMIM:611637	FIG4	9896	HP:0002064	Spastic gait
OMIM:611637	FIG4	9896	HP:0001347	Hyperreflexia
OMIM:611637	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:611637	FIG4	9896	HP:0001285	Spastic tetraparesis
OMIM:611637	FIG4	9896	HP:0002464	Spastic dysarthria
OMIM:611637	FIG4	9896	HP:0003677	Slow progression
OMIM:611637	FIG4	9896	HP:0003487	Babinski sign
OMIM:614749	PIGO	84720	HP:0003196	Short nose
OMIM:614749	PIGO	84720	HP:0000076	Vesicoureteral reflux
OMIM:614749	PIGO	84720	HP:0003577	Congenital onset
OMIM:614749	PIGO	84720	HP:0001250	Seizures
OMIM:614749	PIGO	84720	HP:0010055	Broad hallux
OMIM:614749	PIGO	84720	HP:0002025	Anal stenosis
OMIM:614749	PIGO	84720	HP:0001252	Muscular hypotonia
OMIM:614749	PIGO	84720	HP:0000750	Delayed speech and language development
OMIM:614749	PIGO	84720	HP:0000431	Wide nasal bridge
OMIM:614749	PIGO	84720	HP:0001510	Growth delay
OMIM:614749	PIGO	84720	HP:0000007	Autosomal recessive inheritance
OMIM:614749	PIGO	84720	HP:0010804	Tented upper lip vermilion
OMIM:614749	PIGO	84720	HP:0001631	Atria septal defect
OMIM:614749	PIGO	84720	HP:0001249	Intellectual disability
OMIM:614749	PIGO	84720	HP:0000252	Microcephaly
OMIM:614749	PIGO	84720	HP:0000455	Broad nasal tip
OMIM:614749	PIGO	84720	HP:0002023	Anal atresia
OMIM:614749	PIGO	84720	HP:0001357	Plagiocephaly
OMIM:614749	PIGO	84720	HP:0000316	Hypertelorism
OMIM:614749	PIGO	84720	HP:0002119	Ventriculomegaly
OMIM:614749	PIGV	55650	HP:0003196	Short nose
OMIM:614749	PIGV	55650	HP:0000076	Vesicoureteral reflux
OMIM:614749	PIGV	55650	HP:0003577	Congenital onset
OMIM:614749	PIGV	55650	HP:0001250	Seizures
OMIM:614749	PIGV	55650	HP:0010055	Broad hallux
OMIM:614749	PIGV	55650	HP:0002025	Anal stenosis
OMIM:614749	PIGV	55650	HP:0001252	Muscular hypotonia
OMIM:614749	PIGV	55650	HP:0000750	Delayed speech and language development
OMIM:614749	PIGV	55650	HP:0000431	Wide nasal bridge
OMIM:614749	PIGV	55650	HP:0001510	Growth delay
OMIM:614749	PIGV	55650	HP:0000007	Autosomal recessive inheritance
OMIM:614749	PIGV	55650	HP:0010804	Tented upper lip vermilion
OMIM:614749	PIGV	55650	HP:0001631	Atria septal defect
OMIM:614749	PIGV	55650	HP:0001249	Intellectual disability
OMIM:614749	PIGV	55650	HP:0000252	Microcephaly
OMIM:614749	PIGV	55650	HP:0000455	Broad nasal tip
OMIM:614749	PIGV	55650	HP:0002023	Anal atresia
OMIM:614749	PIGV	55650	HP:0001357	Plagiocephaly
OMIM:614749	PIGV	55650	HP:0000316	Hypertelorism
OMIM:614749	PIGV	55650	HP:0002119	Ventriculomegaly
OMIM:614749	PGAP2	27315	HP:0003196	Short nose
OMIM:614749	PGAP2	27315	HP:0000076	Vesicoureteral reflux
OMIM:614749	PGAP2	27315	HP:0003577	Congenital onset
OMIM:614749	PGAP2	27315	HP:0001250	Seizures
OMIM:614749	PGAP2	27315	HP:0010055	Broad hallux
OMIM:614749	PGAP2	27315	HP:0002025	Anal stenosis
OMIM:614749	PGAP2	27315	HP:0001252	Muscular hypotonia
OMIM:614749	PGAP2	27315	HP:0000750	Delayed speech and language development
OMIM:614749	PGAP2	27315	HP:0000431	Wide nasal bridge
OMIM:614749	PGAP2	27315	HP:0001510	Growth delay
OMIM:614749	PGAP2	27315	HP:0000007	Autosomal recessive inheritance
OMIM:614749	PGAP2	27315	HP:0010804	Tented upper lip vermilion
OMIM:614749	PGAP2	27315	HP:0001631	Atria septal defect
OMIM:614749	PGAP2	27315	HP:0001249	Intellectual disability
OMIM:614749	PGAP2	27315	HP:0000252	Microcephaly
OMIM:614749	PGAP2	27315	HP:0000455	Broad nasal tip
OMIM:614749	PGAP2	27315	HP:0002023	Anal atresia
OMIM:614749	PGAP2	27315	HP:0001357	Plagiocephaly
OMIM:614749	PGAP2	27315	HP:0000316	Hypertelorism
OMIM:614749	PGAP2	27315	HP:0002119	Ventriculomegaly
OMIM:614749	PIGW	284098	HP:0003196	Short nose
OMIM:614749	PIGW	284098	HP:0000076	Vesicoureteral reflux
OMIM:614749	PIGW	284098	HP:0003577	Congenital onset
OMIM:614749	PIGW	284098	HP:0001250	Seizures
OMIM:614749	PIGW	284098	HP:0010055	Broad hallux
OMIM:614749	PIGW	284098	HP:0002025	Anal stenosis
OMIM:614749	PIGW	284098	HP:0001252	Muscular hypotonia
OMIM:614749	PIGW	284098	HP:0000750	Delayed speech and language development
OMIM:614749	PIGW	284098	HP:0000431	Wide nasal bridge
OMIM:614749	PIGW	284098	HP:0001510	Growth delay
OMIM:614749	PIGW	284098	HP:0000007	Autosomal recessive inheritance
OMIM:614749	PIGW	284098	HP:0010804	Tented upper lip vermilion
OMIM:614749	PIGW	284098	HP:0001631	Atria septal defect
OMIM:614749	PIGW	284098	HP:0001249	Intellectual disability
OMIM:614749	PIGW	284098	HP:0000252	Microcephaly
OMIM:614749	PIGW	284098	HP:0000455	Broad nasal tip
OMIM:614749	PIGW	284098	HP:0002023	Anal atresia
OMIM:614749	PIGW	284098	HP:0001357	Plagiocephaly
OMIM:614749	PIGW	284098	HP:0000316	Hypertelorism
OMIM:614749	PIGW	284098	HP:0002119	Ventriculomegaly
OMIM:614749	PGAP3	93210	HP:0003196	Short nose
OMIM:614749	PGAP3	93210	HP:0000076	Vesicoureteral reflux
OMIM:614749	PGAP3	93210	HP:0003577	Congenital onset
OMIM:614749	PGAP3	93210	HP:0001250	Seizures
OMIM:614749	PGAP3	93210	HP:0010055	Broad hallux
OMIM:614749	PGAP3	93210	HP:0002025	Anal stenosis
OMIM:614749	PGAP3	93210	HP:0001252	Muscular hypotonia
OMIM:614749	PGAP3	93210	HP:0000750	Delayed speech and language development
OMIM:614749	PGAP3	93210	HP:0000431	Wide nasal bridge
OMIM:614749	PGAP3	93210	HP:0001510	Growth delay
OMIM:614749	PGAP3	93210	HP:0000007	Autosomal recessive inheritance
OMIM:614749	PGAP3	93210	HP:0010804	Tented upper lip vermilion
OMIM:614749	PGAP3	93210	HP:0001631	Atria septal defect
OMIM:614749	PGAP3	93210	HP:0001249	Intellectual disability
OMIM:614749	PGAP3	93210	HP:0000252	Microcephaly
OMIM:614749	PGAP3	93210	HP:0000455	Broad nasal tip
OMIM:614749	PGAP3	93210	HP:0002023	Anal atresia
OMIM:614749	PGAP3	93210	HP:0001357	Plagiocephaly
OMIM:614749	PGAP3	93210	HP:0000316	Hypertelorism
OMIM:614749	PGAP3	93210	HP:0002119	Ventriculomegaly
OMIM:614749	PIGL	9487	HP:0003196	Short nose
OMIM:614749	PIGL	9487	HP:0000076	Vesicoureteral reflux
OMIM:614749	PIGL	9487	HP:0003577	Congenital onset
OMIM:614749	PIGL	9487	HP:0001250	Seizures
OMIM:614749	PIGL	9487	HP:0010055	Broad hallux
OMIM:614749	PIGL	9487	HP:0002025	Anal stenosis
OMIM:614749	PIGL	9487	HP:0001252	Muscular hypotonia
OMIM:614749	PIGL	9487	HP:0000750	Delayed speech and language development
OMIM:614749	PIGL	9487	HP:0000431	Wide nasal bridge
OMIM:614749	PIGL	9487	HP:0001510	Growth delay
OMIM:614749	PIGL	9487	HP:0000007	Autosomal recessive inheritance
OMIM:614749	PIGL	9487	HP:0010804	Tented upper lip vermilion
OMIM:614749	PIGL	9487	HP:0001631	Atria septal defect
OMIM:614749	PIGL	9487	HP:0001249	Intellectual disability
OMIM:614749	PIGL	9487	HP:0000252	Microcephaly
OMIM:614749	PIGL	9487	HP:0000455	Broad nasal tip
OMIM:614749	PIGL	9487	HP:0002023	Anal atresia
OMIM:614749	PIGL	9487	HP:0001357	Plagiocephaly
OMIM:614749	PIGL	9487	HP:0000316	Hypertelorism
OMIM:614749	PIGL	9487	HP:0002119	Ventriculomegaly
OMIM:608579	IKZF1	10320	HP:0008872	Feeding difficulties in infancy
OMIM:608579	IKZF1	10320	HP:0001034	Hypermelanotic macule
OMIM:608579	IKZF1	10320	HP:0001824	Weight loss
OMIM:608579	IKZF1	10320	HP:0001903	Anemia
OMIM:608579	IKZF1	10320	HP:0004370	Abnormality of temperature regulation
OMIM:608579	IKZF1	10320	HP:0001677	Coronary artery disease
OMIM:608579	IKZF1	10320	HP:0000083	Renal insufficiency
OMIM:608579	IKZF1	10320	HP:0000795	Abnormality of the urethra
OMIM:608579	IKZF1	10320	HP:0002205	Recurrent respiratory infections
OMIM:608579	IKZF1	10320	HP:0001645	Sudden cardiac death
OMIM:608579	IKZF1	10320	HP:0001873	Thrombocytopenia
OMIM:608579	IKZF1	10320	HP:0001733	Pancreatitis
OMIM:608579	IKZF1	10320	HP:0002093	Respiratory insufficiency
OMIM:608579	IKZF1	10320	HP:0002027	Abdominal pain
OMIM:608579	IKZF1	10320	HP:0003781	Excessive salivation
OMIM:608579	IKZF1	10320	HP:0001637	Abnormality of the myocardium
OMIM:608579	IKZF1	10320	HP:0100533	Inflammatory abnormality of the eye
OMIM:608579	IKZF1	10320	HP:0002910	Elevated hepatic transaminases
OMIM:608579	IKZF1	10320	HP:0000505	Visual impairment
OMIM:608579	IKZF1	10320	HP:0001874	Abnormality of neutrophils
OMIM:608579	IKZF1	10320	HP:0002239	Gastrointestinal hemorrhage
OMIM:608579	IKZF1	10320	HP:0000492	Abnormality of the eyelid
OMIM:608579	IKZF1	10320	HP:0002091	Restrictive lung disease
OMIM:608579	IKZF1	10320	HP:0100587	Abnormality of the preputium
OMIM:608579	IKZF1	10320	HP:0000613	Photophobia
OMIM:608579	IKZF1	10320	HP:0002024	Malabsorption
OMIM:608579	IKZF1	10320	HP:0100806	Sepsis
OMIM:608579	IKZF1	10320	HP:0002017	Nausea and vomiting
OMIM:608579	HLA-B	3106	HP:0008872	Feeding difficulties in infancy
OMIM:608579	HLA-B	3106	HP:0001034	Hypermelanotic macule
OMIM:608579	HLA-B	3106	HP:0001824	Weight loss
OMIM:608579	HLA-B	3106	HP:0001903	Anemia
OMIM:608579	HLA-B	3106	HP:0004370	Abnormality of temperature regulation
OMIM:608579	HLA-B	3106	HP:0001677	Coronary artery disease
OMIM:608579	HLA-B	3106	HP:0000083	Renal insufficiency
OMIM:608579	HLA-B	3106	HP:0000795	Abnormality of the urethra
OMIM:608579	HLA-B	3106	HP:0002205	Recurrent respiratory infections
OMIM:608579	HLA-B	3106	HP:0001645	Sudden cardiac death
OMIM:608579	HLA-B	3106	HP:0001873	Thrombocytopenia
OMIM:608579	HLA-B	3106	HP:0001733	Pancreatitis
OMIM:608579	HLA-B	3106	HP:0002093	Respiratory insufficiency
OMIM:608579	HLA-B	3106	HP:0002027	Abdominal pain
OMIM:608579	HLA-B	3106	HP:0003781	Excessive salivation
OMIM:608579	HLA-B	3106	HP:0001637	Abnormality of the myocardium
OMIM:608579	HLA-B	3106	HP:0100533	Inflammatory abnormality of the eye
OMIM:608579	HLA-B	3106	HP:0002910	Elevated hepatic transaminases
OMIM:608579	HLA-B	3106	HP:0000505	Visual impairment
OMIM:608579	HLA-B	3106	HP:0001874	Abnormality of neutrophils
OMIM:608579	HLA-B	3106	HP:0002239	Gastrointestinal hemorrhage
OMIM:608579	HLA-B	3106	HP:0000492	Abnormality of the eyelid
OMIM:608579	HLA-B	3106	HP:0002091	Restrictive lung disease
OMIM:608579	HLA-B	3106	HP:0100587	Abnormality of the preputium
OMIM:608579	HLA-B	3106	HP:0000613	Photophobia
OMIM:608579	HLA-B	3106	HP:0002024	Malabsorption
OMIM:608579	HLA-B	3106	HP:0100806	Sepsis
OMIM:608579	HLA-B	3106	HP:0002017	Nausea and vomiting
OMIM:613119	SCN10A	6336	HP:0012251	ST segment elevation
OMIM:613119	SCN10A	6336	HP:0000006	Autosomal dominant inheritance
OMIM:613119	SCN10A	6336	HP:0001663	Ventricular fibrillation
OMIM:613119	SCN10A	6336	HP:0001695	Cardiac arrest
OMIM:613119	GPD1L	23171	HP:0012251	ST segment elevation
OMIM:613119	GPD1L	23171	HP:0000006	Autosomal dominant inheritance
OMIM:613119	GPD1L	23171	HP:0001663	Ventricular fibrillation
OMIM:613119	GPD1L	23171	HP:0001695	Cardiac arrest
OMIM:613119	HCN4	10021	HP:0012251	ST segment elevation
OMIM:613119	HCN4	10021	HP:0000006	Autosomal dominant inheritance
OMIM:613119	HCN4	10021	HP:0001663	Ventricular fibrillation
OMIM:613119	HCN4	10021	HP:0001695	Cardiac arrest
OMIM:613119	CACNA1C	775	HP:0012251	ST segment elevation
OMIM:613119	CACNA1C	775	HP:0000006	Autosomal dominant inheritance
OMIM:613119	CACNA1C	775	HP:0001663	Ventricular fibrillation
OMIM:613119	CACNA1C	775	HP:0001695	Cardiac arrest
OMIM:613119	KCND3	3752	HP:0012251	ST segment elevation
OMIM:613119	KCND3	3752	HP:0000006	Autosomal dominant inheritance
OMIM:613119	KCND3	3752	HP:0001663	Ventricular fibrillation
OMIM:613119	KCND3	3752	HP:0001695	Cardiac arrest
OMIM:613119	TRPM4	54795	HP:0012251	ST segment elevation
OMIM:613119	TRPM4	54795	HP:0000006	Autosomal dominant inheritance
OMIM:613119	TRPM4	54795	HP:0001663	Ventricular fibrillation
OMIM:613119	TRPM4	54795	HP:0001695	Cardiac arrest
OMIM:613119	CACNA2D1	781	HP:0012251	ST segment elevation
OMIM:613119	CACNA2D1	781	HP:0000006	Autosomal dominant inheritance
OMIM:613119	CACNA2D1	781	HP:0001663	Ventricular fibrillation
OMIM:613119	CACNA2D1	781	HP:0001695	Cardiac arrest
OMIM:613119	CACNB2	783	HP:0012251	ST segment elevation
OMIM:613119	CACNB2	783	HP:0000006	Autosomal dominant inheritance
OMIM:613119	CACNB2	783	HP:0001663	Ventricular fibrillation
OMIM:613119	CACNB2	783	HP:0001695	Cardiac arrest
OMIM:613119	SCN1B	6324	HP:0012251	ST segment elevation
OMIM:613119	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:613119	SCN1B	6324	HP:0001663	Ventricular fibrillation
OMIM:613119	SCN1B	6324	HP:0001695	Cardiac arrest
OMIM:613119	KCNJ8	3764	HP:0012251	ST segment elevation
OMIM:613119	KCNJ8	3764	HP:0000006	Autosomal dominant inheritance
OMIM:613119	KCNJ8	3764	HP:0001663	Ventricular fibrillation
OMIM:613119	KCNJ8	3764	HP:0001695	Cardiac arrest
OMIM:613119	KCNE3	10008	HP:0012251	ST segment elevation
OMIM:613119	KCNE3	10008	HP:0000006	Autosomal dominant inheritance
OMIM:613119	KCNE3	10008	HP:0001663	Ventricular fibrillation
OMIM:613119	KCNE3	10008	HP:0001695	Cardiac arrest
OMIM:613119	SCN3B	55800	HP:0012251	ST segment elevation
OMIM:613119	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:613119	SCN3B	55800	HP:0001663	Ventricular fibrillation
OMIM:613119	SCN3B	55800	HP:0001695	Cardiac arrest
OMIM:613119	SCN5A	6331	HP:0012251	ST segment elevation
OMIM:613119	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613119	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:613119	SCN5A	6331	HP:0001695	Cardiac arrest
OMIM:613119	SLMAP	7871	HP:0012251	ST segment elevation
OMIM:613119	SLMAP	7871	HP:0000006	Autosomal dominant inheritance
OMIM:613119	SLMAP	7871	HP:0001663	Ventricular fibrillation
OMIM:613119	SLMAP	7871	HP:0001695	Cardiac arrest
OMIM:607624	RAB27A	5873	HP:0001317	Abnormality of the cerebellum
OMIM:607624	RAB27A	5873	HP:0001250	Seizures
OMIM:607624	RAB27A	5873	HP:0003819	Death in childhood
OMIM:607624	RAB27A	5873	HP:0002716	Lymphadenopathy
OMIM:607624	RAB27A	5873	HP:0001257	Spasticity
OMIM:607624	RAB27A	5873	HP:0001874	Abnormality of neutrophils
OMIM:607624	RAB27A	5873	HP:0004370	Abnormality of temperature regulation
OMIM:607624	RAB27A	5873	HP:0002216	Premature graying of hair
OMIM:607624	RAB27A	5873	HP:0002113	Pulmonary infiltrates
OMIM:607624	RAB27A	5873	HP:0001933	Subcutaneous hemorrhage
OMIM:607624	RAB27A	5873	HP:0002240	Hepatomegaly
OMIM:607624	RAB27A	5873	HP:0001287	Meningitis
OMIM:607624	RAB27A	5873	HP:0002344	Progressive neurologic deterioration
OMIM:607624	RAB27A	5873	HP:0002017	Nausea and vomiting
OMIM:607624	RAB27A	5873	HP:0001107	Ocular albinism
OMIM:607624	RAB27A	5873	HP:0003119	Abnormality of lipid metabolism
OMIM:607624	RAB27A	5873	HP:0002718	Recurrent bacterial infections
OMIM:607624	RAB27A	5873	HP:0005599	Hypopigmentation of hair
OMIM:607624	RAB27A	5873	HP:0001276	Hypertonia
OMIM:607624	RAB27A	5873	HP:0001744	Splenomegaly
OMIM:607624	RAB27A	5873	HP:0000007	Autosomal recessive inheritance
OMIM:607624	RAB27A	5873	HP:0001053	Hypopigmented skin patches
OMIM:607624	RAB27A	5873	HP:0003593	Infantile onset
OMIM:607624	RAB27A	5873	HP:0001010	Hypopigmentation of the skin
OMIM:607624	RAB27A	5873	HP:0005528	Bone marrow hypocellularity
OMIM:300322	HPRT1	3251	HP:0004322	Short stature
OMIM:300322	HPRT1	3251	HP:0001332	Dystonia
OMIM:300322	HPRT1	3251	HP:0001889	Megaloblastic anemia
OMIM:300322	HPRT1	3251	HP:0002015	Dysphagia
OMIM:300322	HPRT1	3251	HP:0001260	Dysarthria
OMIM:300322	HPRT1	3251	HP:0001252	Muscular hypotonia
OMIM:300322	HPRT1	3251	HP:0001249	Intellectual disability
OMIM:300322	HPRT1	3251	HP:0001266	Choreoathetosis
OMIM:300322	HPRT1	3251	HP:0001347	Hyperreflexia
OMIM:300322	HPRT1	3251	HP:0002013	Vomiting
OMIM:300322	HPRT1	3251	HP:0001257	Spasticity
OMIM:300322	HPRT1	3251	HP:0001270	Motor delay
OMIM:300322	HPRT1	3251	HP:0000787	Nephrolithiasis
OMIM:300322	HPRT1	3251	HP:0001419	X-linked recessive inheritance
OMIM:300322	HPRT1	3251	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:300322	HPRT1	3251	HP:0002179	Opisthotonus
OMIM:607791	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:607791	MPZ	4359	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:607791	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:607791	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:607791	MPZ	4359	HP:0001284	Areflexia
OMIM:607791	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:607791	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:614487	AFG3L2	10939	HP:0001324	Muscle weakness
OMIM:614487	AFG3L2	10939	HP:0001310	Dysmetria
OMIM:614487	AFG3L2	10939	HP:0007141	Sensorimotor neuropathy
OMIM:614487	AFG3L2	10939	HP:0003202	Skeletal muscle atrophy
OMIM:614487	AFG3L2	10939	HP:0003676	Progressive
OMIM:614487	AFG3L2	10939	HP:0001332	Dystonia
OMIM:614487	AFG3L2	10939	HP:0002313	Spastic paraparesis
OMIM:614487	AFG3L2	10939	HP:0002075	Dysdiadochokinesis
OMIM:614487	AFG3L2	10939	HP:0000657	Oculomotor apraxia
OMIM:614487	AFG3L2	10939	HP:0003593	Infantile onset
OMIM:614487	AFG3L2	10939	HP:0001272	Cerebellar atrophy
OMIM:614487	AFG3L2	10939	HP:0002069	Generalized tonic-clonic seizures
OMIM:614487	AFG3L2	10939	HP:0001336	Myoclonus
OMIM:614487	AFG3L2	10939	HP:0000508	Ptosis
OMIM:614487	AFG3L2	10939	HP:0001260	Dysarthria
OMIM:614487	AFG3L2	10939	HP:0002015	Dysphagia
OMIM:614487	AFG3L2	10939	HP:0000007	Autosomal recessive inheritance
OMIM:614487	AFG3L2	10939	HP:0002123	Generalized myoclonic seizures
OMIM:614188	IL11RA	3590	HP:0004440	Coronal craniosynostosis
OMIM:614188	IL11RA	3590	HP:0030084	Clinodactyly
OMIM:614188	IL11RA	3590	HP:0000262	Turricephaly
OMIM:614188	IL11RA	3590	HP:0000684	Delayed eruption of teeth
OMIM:614188	IL11RA	3590	HP:0001822	Hallux valgus
OMIM:614188	IL11RA	3590	HP:0001159	Syndactyly
OMIM:614188	IL11RA	3590	HP:0000243	Trigonocephaly
OMIM:614188	IL11RA	3590	HP:0004442	Sagittal craniosynostosis
OMIM:614188	IL11RA	3590	HP:0000248	Brachycephaly
OMIM:614188	IL11RA	3590	HP:0004443	Lambdoidal craniosynostosis
OMIM:614188	IL11RA	3590	HP:0009803	Short phalanx of finger
OMIM:614188	IL11RA	3590	HP:0000007	Autosomal recessive inheritance
OMIM:614188	IL11RA	3590	HP:0000268	Dolichocephaly
OMIM:614188	IL11RA	3590	HP:0000316	Hypertelorism
OMIM:614188	IL11RA	3590	HP:0000327	Hypoplasia of the maxilla
OMIM:300751	ALAS2	212	HP:0001626	Abnormality of the cardiovascular system
OMIM:300751	ALAS2	212	HP:0005978	Type II diabetes mellitus
OMIM:300751	ALAS2	212	HP:0001419	X-linked recessive inheritance
OMIM:300751	ALAS2	212	HP:0003828	Variable expressivity
OMIM:300751	ALAS2	212	HP:0001743	Abnormality of the spleen
OMIM:300751	ALAS2	212	HP:0001903	Anemia
OMIM:300751	ALAS2	212	HP:0001972	Macrocytic anemia
OMIM:300751	ALAS2	212	HP:0002093	Respiratory insufficiency
OMIM:300751	ALAS2	212	HP:0007400	Irregular hyperpigmentation
OMIM:601277	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:601277	ALOXE3	59344	HP:0000707	Abnormality of the nervous system
OMIM:601277	ALOXE3	59344	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:601277	ALOXE3	59344	HP:0001217	Clubbing
OMIM:601277	ALOXE3	59344	HP:0001438	Abnormality of the abdomen
OMIM:601277	ALOXE3	59344	HP:0000982	Palmoplantar keratoderma
OMIM:601277	ALOX12B	242	HP:0000007	Autosomal recessive inheritance
OMIM:601277	ALOX12B	242	HP:0000707	Abnormality of the nervous system
OMIM:601277	ALOX12B	242	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:601277	ALOX12B	242	HP:0001217	Clubbing
OMIM:601277	ALOX12B	242	HP:0001438	Abnormality of the abdomen
OMIM:601277	ALOX12B	242	HP:0000982	Palmoplantar keratoderma
OMIM:601277	LIPN	643418	HP:0000007	Autosomal recessive inheritance
OMIM:601277	LIPN	643418	HP:0000707	Abnormality of the nervous system
OMIM:601277	LIPN	643418	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:601277	LIPN	643418	HP:0001217	Clubbing
OMIM:601277	LIPN	643418	HP:0001438	Abnormality of the abdomen
OMIM:601277	LIPN	643418	HP:0000982	Palmoplantar keratoderma
OMIM:601277	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:601277	ABCA12	26154	HP:0000707	Abnormality of the nervous system
OMIM:601277	ABCA12	26154	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:601277	ABCA12	26154	HP:0001217	Clubbing
OMIM:601277	ABCA12	26154	HP:0001438	Abnormality of the abdomen
OMIM:601277	ABCA12	26154	HP:0000982	Palmoplantar keratoderma
OMIM:601277	TGM1	7051	HP:0000007	Autosomal recessive inheritance
OMIM:601277	TGM1	7051	HP:0000707	Abnormality of the nervous system
OMIM:601277	TGM1	7051	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:601277	TGM1	7051	HP:0001217	Clubbing
OMIM:601277	TGM1	7051	HP:0001438	Abnormality of the abdomen
OMIM:601277	TGM1	7051	HP:0000982	Palmoplantar keratoderma
OMIM:601277	CYP4F22	126410	HP:0000007	Autosomal recessive inheritance
OMIM:601277	CYP4F22	126410	HP:0000707	Abnormality of the nervous system
OMIM:601277	CYP4F22	126410	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:601277	CYP4F22	126410	HP:0001217	Clubbing
OMIM:601277	CYP4F22	126410	HP:0001438	Abnormality of the abdomen
OMIM:601277	CYP4F22	126410	HP:0000982	Palmoplantar keratoderma
OMIM:601277	NIPAL4	348938	HP:0000007	Autosomal recessive inheritance
OMIM:601277	NIPAL4	348938	HP:0000707	Abnormality of the nervous system
OMIM:601277	NIPAL4	348938	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:601277	NIPAL4	348938	HP:0001217	Clubbing
OMIM:601277	NIPAL4	348938	HP:0001438	Abnormality of the abdomen
OMIM:601277	NIPAL4	348938	HP:0000982	Palmoplantar keratoderma
OMIM:614756	CAMTA1	23261	HP:0001321	Cerebellar hypoplasia
OMIM:614756	CAMTA1	23261	HP:0002317	Unsteady gait
OMIM:614756	CAMTA1	23261	HP:0000463	Anteverted nares
OMIM:614756	CAMTA1	23261	HP:0000486	Strabismus
OMIM:614756	CAMTA1	23261	HP:0000179	Thick lower lip vermilion
OMIM:614756	CAMTA1	23261	HP:0001263	Global developmental delay
OMIM:614756	CAMTA1	23261	HP:0001256	Intellectual disability, mild
OMIM:614756	CAMTA1	23261	HP:0000750	Delayed speech and language development
OMIM:614756	CAMTA1	23261	HP:0001310	Dysmetria
OMIM:614756	CAMTA1	23261	HP:0000343	Long philtrum
OMIM:614756	CAMTA1	23261	HP:0000276	Long face
OMIM:614756	CAMTA1	23261	HP:0000307	Pointed chin
OMIM:614756	CAMTA1	23261	HP:0000006	Autosomal dominant inheritance
OMIM:614756	CAMTA1	23261	HP:0000414	Bulbous nose
OMIM:614756	CAMTA1	23261	HP:0001260	Dysarthria
OMIM:614756	CAMTA1	23261	HP:0000160	Narrow mouth
OMIM:614756	CAMTA1	23261	HP:0001319	Neonatal hypotonia
OMIM:607631	EFHC1	114327	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
OMIM:607631	EFHC1	114327	HP:0002121	Absence seizures
OMIM:607631	EFHC1	114327	HP:0000006	Autosomal dominant inheritance
OMIM:607631	EFHC1	114327	HP:0002123	Generalized myoclonic seizures
OMIM:607631	EFHC1	114327	HP:0007193	Generalized tonic-clonic seizures on awakening
ORPHANET:648	RIT1	6016	HP:0000465	Webbed neck
ORPHANET:648	RIT1	6016	HP:0001252	Muscular hypotonia
ORPHANET:648	RIT1	6016	HP:0000639	Nystagmus
ORPHANET:648	RIT1	6016	HP:0000767	Pectus excavatum
ORPHANET:648	RIT1	6016	HP:0004404	Abnormality of the nipple
ORPHANET:648	RIT1	6016	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	RIT1	6016	HP:0000520	Proptosis
ORPHANET:648	RIT1	6016	HP:0100625	Enlarged thorax
ORPHANET:648	RIT1	6016	HP:0000768	Pectus carinatum
ORPHANET:648	RIT1	6016	HP:0004322	Short stature
ORPHANET:648	RIT1	6016	HP:0011362	Abnormal hair quantity
ORPHANET:648	RIT1	6016	HP:0002974	Radioulnar synostosis
ORPHANET:648	RIT1	6016	HP:0001156	Brachydactyly syndrome
ORPHANET:648	RIT1	6016	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	RIT1	6016	HP:0000347	Micrognathia
ORPHANET:648	RIT1	6016	HP:0001004	Lymphedema
ORPHANET:648	RIT1	6016	HP:0000179	Thick lower lip vermilion
ORPHANET:648	RIT1	6016	HP:0001382	Joint hypermobility
ORPHANET:648	RIT1	6016	HP:0000508	Ptosis
ORPHANET:648	RIT1	6016	HP:0001743	Abnormality of the spleen
ORPHANET:648	RIT1	6016	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	RIT1	6016	HP:0011039	Abnormality of the helix
ORPHANET:648	RIT1	6016	HP:0000476	Cystic hygroma
ORPHANET:648	RIT1	6016	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	RIT1	6016	HP:0000325	Triangular face
ORPHANET:648	RIT1	6016	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	RIT1	6016	HP:0000316	Hypertelorism
ORPHANET:648	RIT1	6016	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	RIT1	6016	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	RIT1	6016	HP:0002750	Delayed skeletal maturation
ORPHANET:648	RIT1	6016	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	RIT1	6016	HP:0001324	Muscle weakness
ORPHANET:648	RIT1	6016	HP:0002208	Coarse hair
ORPHANET:648	RIT1	6016	HP:0002162	Low posterior hairline
ORPHANET:648	RIT1	6016	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	RIT1	6016	HP:0000995	Melanocytic nevus
ORPHANET:648	RIT1	6016	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	RIT1	6016	HP:0002240	Hepatomegaly
ORPHANET:648	RIT1	6016	HP:0000174	Abnormality of the palate
ORPHANET:648	RIT1	6016	HP:0002167	Neurological speech impairment
ORPHANET:648	RIT1	6016	HP:0001928	Abnormality of coagulation
ORPHANET:648	RIT1	6016	HP:0000486	Strabismus
ORPHANET:648	RIT1	6016	HP:0000348	High forehead
ORPHANET:648	RIT1	6016	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	RIT1	6016	HP:0000028	Cryptorchidism
ORPHANET:648	RIT1	6016	HP:0002650	Scoliosis
ORPHANET:648	RIT1	6016	HP:0011675	Arrhythmia
ORPHANET:648	RIT1	6016	HP:0000272	Malar flattening
ORPHANET:648	BRAF	673	HP:0000465	Webbed neck
ORPHANET:648	BRAF	673	HP:0001252	Muscular hypotonia
ORPHANET:648	BRAF	673	HP:0000639	Nystagmus
ORPHANET:648	BRAF	673	HP:0000767	Pectus excavatum
ORPHANET:648	BRAF	673	HP:0004404	Abnormality of the nipple
ORPHANET:648	BRAF	673	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	BRAF	673	HP:0000520	Proptosis
ORPHANET:648	BRAF	673	HP:0100625	Enlarged thorax
ORPHANET:648	BRAF	673	HP:0000768	Pectus carinatum
ORPHANET:648	BRAF	673	HP:0004322	Short stature
ORPHANET:648	BRAF	673	HP:0011362	Abnormal hair quantity
ORPHANET:648	BRAF	673	HP:0002974	Radioulnar synostosis
ORPHANET:648	BRAF	673	HP:0001156	Brachydactyly syndrome
ORPHANET:648	BRAF	673	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	BRAF	673	HP:0000347	Micrognathia
ORPHANET:648	BRAF	673	HP:0001004	Lymphedema
ORPHANET:648	BRAF	673	HP:0000179	Thick lower lip vermilion
ORPHANET:648	BRAF	673	HP:0001382	Joint hypermobility
ORPHANET:648	BRAF	673	HP:0000508	Ptosis
ORPHANET:648	BRAF	673	HP:0001743	Abnormality of the spleen
ORPHANET:648	BRAF	673	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	BRAF	673	HP:0011039	Abnormality of the helix
ORPHANET:648	BRAF	673	HP:0000476	Cystic hygroma
ORPHANET:648	BRAF	673	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	BRAF	673	HP:0000325	Triangular face
ORPHANET:648	BRAF	673	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	BRAF	673	HP:0000316	Hypertelorism
ORPHANET:648	BRAF	673	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	BRAF	673	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	BRAF	673	HP:0002750	Delayed skeletal maturation
ORPHANET:648	BRAF	673	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	BRAF	673	HP:0001324	Muscle weakness
ORPHANET:648	BRAF	673	HP:0002208	Coarse hair
ORPHANET:648	BRAF	673	HP:0002162	Low posterior hairline
ORPHANET:648	BRAF	673	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	BRAF	673	HP:0000995	Melanocytic nevus
ORPHANET:648	BRAF	673	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	BRAF	673	HP:0002240	Hepatomegaly
ORPHANET:648	BRAF	673	HP:0000174	Abnormality of the palate
ORPHANET:648	BRAF	673	HP:0002167	Neurological speech impairment
ORPHANET:648	BRAF	673	HP:0001928	Abnormality of coagulation
ORPHANET:648	BRAF	673	HP:0000486	Strabismus
ORPHANET:648	BRAF	673	HP:0000348	High forehead
ORPHANET:648	BRAF	673	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	BRAF	673	HP:0000028	Cryptorchidism
ORPHANET:648	BRAF	673	HP:0002650	Scoliosis
ORPHANET:648	BRAF	673	HP:0011675	Arrhythmia
ORPHANET:648	BRAF	673	HP:0000272	Malar flattening
ORPHANET:648	KAT6B	23522	HP:0000465	Webbed neck
ORPHANET:648	KAT6B	23522	HP:0001252	Muscular hypotonia
ORPHANET:648	KAT6B	23522	HP:0000639	Nystagmus
ORPHANET:648	KAT6B	23522	HP:0000767	Pectus excavatum
ORPHANET:648	KAT6B	23522	HP:0004404	Abnormality of the nipple
ORPHANET:648	KAT6B	23522	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	KAT6B	23522	HP:0000520	Proptosis
ORPHANET:648	KAT6B	23522	HP:0100625	Enlarged thorax
ORPHANET:648	KAT6B	23522	HP:0000768	Pectus carinatum
ORPHANET:648	KAT6B	23522	HP:0004322	Short stature
ORPHANET:648	KAT6B	23522	HP:0011362	Abnormal hair quantity
ORPHANET:648	KAT6B	23522	HP:0002974	Radioulnar synostosis
ORPHANET:648	KAT6B	23522	HP:0001156	Brachydactyly syndrome
ORPHANET:648	KAT6B	23522	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	KAT6B	23522	HP:0000347	Micrognathia
ORPHANET:648	KAT6B	23522	HP:0001004	Lymphedema
ORPHANET:648	KAT6B	23522	HP:0000179	Thick lower lip vermilion
ORPHANET:648	KAT6B	23522	HP:0001382	Joint hypermobility
ORPHANET:648	KAT6B	23522	HP:0000508	Ptosis
ORPHANET:648	KAT6B	23522	HP:0001743	Abnormality of the spleen
ORPHANET:648	KAT6B	23522	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	KAT6B	23522	HP:0011039	Abnormality of the helix
ORPHANET:648	KAT6B	23522	HP:0000476	Cystic hygroma
ORPHANET:648	KAT6B	23522	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	KAT6B	23522	HP:0000325	Triangular face
ORPHANET:648	KAT6B	23522	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	KAT6B	23522	HP:0000316	Hypertelorism
ORPHANET:648	KAT6B	23522	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	KAT6B	23522	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	KAT6B	23522	HP:0002750	Delayed skeletal maturation
ORPHANET:648	KAT6B	23522	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	KAT6B	23522	HP:0001324	Muscle weakness
ORPHANET:648	KAT6B	23522	HP:0002208	Coarse hair
ORPHANET:648	KAT6B	23522	HP:0002162	Low posterior hairline
ORPHANET:648	KAT6B	23522	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	KAT6B	23522	HP:0000995	Melanocytic nevus
ORPHANET:648	KAT6B	23522	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	KAT6B	23522	HP:0002240	Hepatomegaly
ORPHANET:648	KAT6B	23522	HP:0000174	Abnormality of the palate
ORPHANET:648	KAT6B	23522	HP:0002167	Neurological speech impairment
ORPHANET:648	KAT6B	23522	HP:0001928	Abnormality of coagulation
ORPHANET:648	KAT6B	23522	HP:0000486	Strabismus
ORPHANET:648	KAT6B	23522	HP:0000348	High forehead
ORPHANET:648	KAT6B	23522	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	KAT6B	23522	HP:0000028	Cryptorchidism
ORPHANET:648	KAT6B	23522	HP:0002650	Scoliosis
ORPHANET:648	KAT6B	23522	HP:0011675	Arrhythmia
ORPHANET:648	KAT6B	23522	HP:0000272	Malar flattening
ORPHANET:648	RASA2	5922	HP:0000465	Webbed neck
ORPHANET:648	RASA2	5922	HP:0001252	Muscular hypotonia
ORPHANET:648	RASA2	5922	HP:0000639	Nystagmus
ORPHANET:648	RASA2	5922	HP:0000767	Pectus excavatum
ORPHANET:648	RASA2	5922	HP:0004404	Abnormality of the nipple
ORPHANET:648	RASA2	5922	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	RASA2	5922	HP:0000520	Proptosis
ORPHANET:648	RASA2	5922	HP:0100625	Enlarged thorax
ORPHANET:648	RASA2	5922	HP:0000768	Pectus carinatum
ORPHANET:648	RASA2	5922	HP:0004322	Short stature
ORPHANET:648	RASA2	5922	HP:0011362	Abnormal hair quantity
ORPHANET:648	RASA2	5922	HP:0002974	Radioulnar synostosis
ORPHANET:648	RASA2	5922	HP:0001156	Brachydactyly syndrome
ORPHANET:648	RASA2	5922	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	RASA2	5922	HP:0000347	Micrognathia
ORPHANET:648	RASA2	5922	HP:0001004	Lymphedema
ORPHANET:648	RASA2	5922	HP:0000179	Thick lower lip vermilion
ORPHANET:648	RASA2	5922	HP:0001382	Joint hypermobility
ORPHANET:648	RASA2	5922	HP:0000508	Ptosis
ORPHANET:648	RASA2	5922	HP:0001743	Abnormality of the spleen
ORPHANET:648	RASA2	5922	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	RASA2	5922	HP:0011039	Abnormality of the helix
ORPHANET:648	RASA2	5922	HP:0000476	Cystic hygroma
ORPHANET:648	RASA2	5922	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	RASA2	5922	HP:0000325	Triangular face
ORPHANET:648	RASA2	5922	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	RASA2	5922	HP:0000316	Hypertelorism
ORPHANET:648	RASA2	5922	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	RASA2	5922	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	RASA2	5922	HP:0002750	Delayed skeletal maturation
ORPHANET:648	RASA2	5922	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	RASA2	5922	HP:0001324	Muscle weakness
ORPHANET:648	RASA2	5922	HP:0002208	Coarse hair
ORPHANET:648	RASA2	5922	HP:0002162	Low posterior hairline
ORPHANET:648	RASA2	5922	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	RASA2	5922	HP:0000995	Melanocytic nevus
ORPHANET:648	RASA2	5922	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	RASA2	5922	HP:0002240	Hepatomegaly
ORPHANET:648	RASA2	5922	HP:0000174	Abnormality of the palate
ORPHANET:648	RASA2	5922	HP:0002167	Neurological speech impairment
ORPHANET:648	RASA2	5922	HP:0001928	Abnormality of coagulation
ORPHANET:648	RASA2	5922	HP:0000486	Strabismus
ORPHANET:648	RASA2	5922	HP:0000348	High forehead
ORPHANET:648	RASA2	5922	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	RASA2	5922	HP:0000028	Cryptorchidism
ORPHANET:648	RASA2	5922	HP:0002650	Scoliosis
ORPHANET:648	RASA2	5922	HP:0011675	Arrhythmia
ORPHANET:648	RASA2	5922	HP:0000272	Malar flattening
ORPHANET:648	PTPN11	5781	HP:0000465	Webbed neck
ORPHANET:648	PTPN11	5781	HP:0001252	Muscular hypotonia
ORPHANET:648	PTPN11	5781	HP:0000639	Nystagmus
ORPHANET:648	PTPN11	5781	HP:0000767	Pectus excavatum
ORPHANET:648	PTPN11	5781	HP:0004404	Abnormality of the nipple
ORPHANET:648	PTPN11	5781	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	PTPN11	5781	HP:0000520	Proptosis
ORPHANET:648	PTPN11	5781	HP:0100625	Enlarged thorax
ORPHANET:648	PTPN11	5781	HP:0000768	Pectus carinatum
ORPHANET:648	PTPN11	5781	HP:0004322	Short stature
ORPHANET:648	PTPN11	5781	HP:0011362	Abnormal hair quantity
ORPHANET:648	PTPN11	5781	HP:0002974	Radioulnar synostosis
ORPHANET:648	PTPN11	5781	HP:0001156	Brachydactyly syndrome
ORPHANET:648	PTPN11	5781	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	PTPN11	5781	HP:0000347	Micrognathia
ORPHANET:648	PTPN11	5781	HP:0001004	Lymphedema
ORPHANET:648	PTPN11	5781	HP:0000179	Thick lower lip vermilion
ORPHANET:648	PTPN11	5781	HP:0001382	Joint hypermobility
ORPHANET:648	PTPN11	5781	HP:0000508	Ptosis
ORPHANET:648	PTPN11	5781	HP:0001743	Abnormality of the spleen
ORPHANET:648	PTPN11	5781	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	PTPN11	5781	HP:0011039	Abnormality of the helix
ORPHANET:648	PTPN11	5781	HP:0000476	Cystic hygroma
ORPHANET:648	PTPN11	5781	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	PTPN11	5781	HP:0000325	Triangular face
ORPHANET:648	PTPN11	5781	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	PTPN11	5781	HP:0000316	Hypertelorism
ORPHANET:648	PTPN11	5781	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	PTPN11	5781	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	PTPN11	5781	HP:0002750	Delayed skeletal maturation
ORPHANET:648	PTPN11	5781	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	PTPN11	5781	HP:0001324	Muscle weakness
ORPHANET:648	PTPN11	5781	HP:0002208	Coarse hair
ORPHANET:648	PTPN11	5781	HP:0002162	Low posterior hairline
ORPHANET:648	PTPN11	5781	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	PTPN11	5781	HP:0000995	Melanocytic nevus
ORPHANET:648	PTPN11	5781	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	PTPN11	5781	HP:0002240	Hepatomegaly
ORPHANET:648	PTPN11	5781	HP:0000174	Abnormality of the palate
ORPHANET:648	PTPN11	5781	HP:0002167	Neurological speech impairment
ORPHANET:648	PTPN11	5781	HP:0001928	Abnormality of coagulation
ORPHANET:648	PTPN11	5781	HP:0000486	Strabismus
ORPHANET:648	PTPN11	5781	HP:0000348	High forehead
ORPHANET:648	PTPN11	5781	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	PTPN11	5781	HP:0000028	Cryptorchidism
ORPHANET:648	PTPN11	5781	HP:0002650	Scoliosis
ORPHANET:648	PTPN11	5781	HP:0011675	Arrhythmia
ORPHANET:648	PTPN11	5781	HP:0000272	Malar flattening
ORPHANET:648	KRAS	3845	HP:0000465	Webbed neck
ORPHANET:648	KRAS	3845	HP:0001252	Muscular hypotonia
ORPHANET:648	KRAS	3845	HP:0000639	Nystagmus
ORPHANET:648	KRAS	3845	HP:0000767	Pectus excavatum
ORPHANET:648	KRAS	3845	HP:0004404	Abnormality of the nipple
ORPHANET:648	KRAS	3845	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	KRAS	3845	HP:0000520	Proptosis
ORPHANET:648	KRAS	3845	HP:0100625	Enlarged thorax
ORPHANET:648	KRAS	3845	HP:0000768	Pectus carinatum
ORPHANET:648	KRAS	3845	HP:0004322	Short stature
ORPHANET:648	KRAS	3845	HP:0011362	Abnormal hair quantity
ORPHANET:648	KRAS	3845	HP:0002974	Radioulnar synostosis
ORPHANET:648	KRAS	3845	HP:0001156	Brachydactyly syndrome
ORPHANET:648	KRAS	3845	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	KRAS	3845	HP:0000347	Micrognathia
ORPHANET:648	KRAS	3845	HP:0001004	Lymphedema
ORPHANET:648	KRAS	3845	HP:0000179	Thick lower lip vermilion
ORPHANET:648	KRAS	3845	HP:0001382	Joint hypermobility
ORPHANET:648	KRAS	3845	HP:0000508	Ptosis
ORPHANET:648	KRAS	3845	HP:0001743	Abnormality of the spleen
ORPHANET:648	KRAS	3845	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	KRAS	3845	HP:0011039	Abnormality of the helix
ORPHANET:648	KRAS	3845	HP:0000476	Cystic hygroma
ORPHANET:648	KRAS	3845	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	KRAS	3845	HP:0000325	Triangular face
ORPHANET:648	KRAS	3845	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	KRAS	3845	HP:0000316	Hypertelorism
ORPHANET:648	KRAS	3845	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	KRAS	3845	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	KRAS	3845	HP:0002750	Delayed skeletal maturation
ORPHANET:648	KRAS	3845	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	KRAS	3845	HP:0001324	Muscle weakness
ORPHANET:648	KRAS	3845	HP:0002208	Coarse hair
ORPHANET:648	KRAS	3845	HP:0002162	Low posterior hairline
ORPHANET:648	KRAS	3845	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	KRAS	3845	HP:0000995	Melanocytic nevus
ORPHANET:648	KRAS	3845	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	KRAS	3845	HP:0002240	Hepatomegaly
ORPHANET:648	KRAS	3845	HP:0000174	Abnormality of the palate
ORPHANET:648	KRAS	3845	HP:0002167	Neurological speech impairment
ORPHANET:648	KRAS	3845	HP:0001928	Abnormality of coagulation
ORPHANET:648	KRAS	3845	HP:0000486	Strabismus
ORPHANET:648	KRAS	3845	HP:0000348	High forehead
ORPHANET:648	KRAS	3845	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	KRAS	3845	HP:0000028	Cryptorchidism
ORPHANET:648	KRAS	3845	HP:0002650	Scoliosis
ORPHANET:648	KRAS	3845	HP:0011675	Arrhythmia
ORPHANET:648	KRAS	3845	HP:0000272	Malar flattening
ORPHANET:648	RAF1	5894	HP:0000465	Webbed neck
ORPHANET:648	RAF1	5894	HP:0001252	Muscular hypotonia
ORPHANET:648	RAF1	5894	HP:0000639	Nystagmus
ORPHANET:648	RAF1	5894	HP:0000767	Pectus excavatum
ORPHANET:648	RAF1	5894	HP:0004404	Abnormality of the nipple
ORPHANET:648	RAF1	5894	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	RAF1	5894	HP:0000520	Proptosis
ORPHANET:648	RAF1	5894	HP:0100625	Enlarged thorax
ORPHANET:648	RAF1	5894	HP:0000768	Pectus carinatum
ORPHANET:648	RAF1	5894	HP:0004322	Short stature
ORPHANET:648	RAF1	5894	HP:0011362	Abnormal hair quantity
ORPHANET:648	RAF1	5894	HP:0002974	Radioulnar synostosis
ORPHANET:648	RAF1	5894	HP:0001156	Brachydactyly syndrome
ORPHANET:648	RAF1	5894	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	RAF1	5894	HP:0000347	Micrognathia
ORPHANET:648	RAF1	5894	HP:0001004	Lymphedema
ORPHANET:648	RAF1	5894	HP:0000179	Thick lower lip vermilion
ORPHANET:648	RAF1	5894	HP:0001382	Joint hypermobility
ORPHANET:648	RAF1	5894	HP:0000508	Ptosis
ORPHANET:648	RAF1	5894	HP:0001743	Abnormality of the spleen
ORPHANET:648	RAF1	5894	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	RAF1	5894	HP:0011039	Abnormality of the helix
ORPHANET:648	RAF1	5894	HP:0000476	Cystic hygroma
ORPHANET:648	RAF1	5894	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	RAF1	5894	HP:0000325	Triangular face
ORPHANET:648	RAF1	5894	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	RAF1	5894	HP:0000316	Hypertelorism
ORPHANET:648	RAF1	5894	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	RAF1	5894	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	RAF1	5894	HP:0002750	Delayed skeletal maturation
ORPHANET:648	RAF1	5894	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	RAF1	5894	HP:0001324	Muscle weakness
ORPHANET:648	RAF1	5894	HP:0002208	Coarse hair
ORPHANET:648	RAF1	5894	HP:0002162	Low posterior hairline
ORPHANET:648	RAF1	5894	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	RAF1	5894	HP:0000995	Melanocytic nevus
ORPHANET:648	RAF1	5894	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	RAF1	5894	HP:0002240	Hepatomegaly
ORPHANET:648	RAF1	5894	HP:0000174	Abnormality of the palate
ORPHANET:648	RAF1	5894	HP:0002167	Neurological speech impairment
ORPHANET:648	RAF1	5894	HP:0001928	Abnormality of coagulation
ORPHANET:648	RAF1	5894	HP:0000486	Strabismus
ORPHANET:648	RAF1	5894	HP:0000348	High forehead
ORPHANET:648	RAF1	5894	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	RAF1	5894	HP:0000028	Cryptorchidism
ORPHANET:648	RAF1	5894	HP:0002650	Scoliosis
ORPHANET:648	RAF1	5894	HP:0011675	Arrhythmia
ORPHANET:648	RAF1	5894	HP:0000272	Malar flattening
ORPHANET:648	LZTR1	8216	HP:0000465	Webbed neck
ORPHANET:648	LZTR1	8216	HP:0001252	Muscular hypotonia
ORPHANET:648	LZTR1	8216	HP:0000639	Nystagmus
ORPHANET:648	LZTR1	8216	HP:0000767	Pectus excavatum
ORPHANET:648	LZTR1	8216	HP:0004404	Abnormality of the nipple
ORPHANET:648	LZTR1	8216	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	LZTR1	8216	HP:0000520	Proptosis
ORPHANET:648	LZTR1	8216	HP:0100625	Enlarged thorax
ORPHANET:648	LZTR1	8216	HP:0000768	Pectus carinatum
ORPHANET:648	LZTR1	8216	HP:0004322	Short stature
ORPHANET:648	LZTR1	8216	HP:0011362	Abnormal hair quantity
ORPHANET:648	LZTR1	8216	HP:0002974	Radioulnar synostosis
ORPHANET:648	LZTR1	8216	HP:0001156	Brachydactyly syndrome
ORPHANET:648	LZTR1	8216	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	LZTR1	8216	HP:0000347	Micrognathia
ORPHANET:648	LZTR1	8216	HP:0001004	Lymphedema
ORPHANET:648	LZTR1	8216	HP:0000179	Thick lower lip vermilion
ORPHANET:648	LZTR1	8216	HP:0001382	Joint hypermobility
ORPHANET:648	LZTR1	8216	HP:0000508	Ptosis
ORPHANET:648	LZTR1	8216	HP:0001743	Abnormality of the spleen
ORPHANET:648	LZTR1	8216	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	LZTR1	8216	HP:0011039	Abnormality of the helix
ORPHANET:648	LZTR1	8216	HP:0000476	Cystic hygroma
ORPHANET:648	LZTR1	8216	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	LZTR1	8216	HP:0000325	Triangular face
ORPHANET:648	LZTR1	8216	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	LZTR1	8216	HP:0000316	Hypertelorism
ORPHANET:648	LZTR1	8216	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	LZTR1	8216	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	LZTR1	8216	HP:0002750	Delayed skeletal maturation
ORPHANET:648	LZTR1	8216	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	LZTR1	8216	HP:0001324	Muscle weakness
ORPHANET:648	LZTR1	8216	HP:0002208	Coarse hair
ORPHANET:648	LZTR1	8216	HP:0002162	Low posterior hairline
ORPHANET:648	LZTR1	8216	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	LZTR1	8216	HP:0000995	Melanocytic nevus
ORPHANET:648	LZTR1	8216	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	LZTR1	8216	HP:0002240	Hepatomegaly
ORPHANET:648	LZTR1	8216	HP:0000174	Abnormality of the palate
ORPHANET:648	LZTR1	8216	HP:0002167	Neurological speech impairment
ORPHANET:648	LZTR1	8216	HP:0001928	Abnormality of coagulation
ORPHANET:648	LZTR1	8216	HP:0000486	Strabismus
ORPHANET:648	LZTR1	8216	HP:0000348	High forehead
ORPHANET:648	LZTR1	8216	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	LZTR1	8216	HP:0000028	Cryptorchidism
ORPHANET:648	LZTR1	8216	HP:0002650	Scoliosis
ORPHANET:648	LZTR1	8216	HP:0011675	Arrhythmia
ORPHANET:648	LZTR1	8216	HP:0000272	Malar flattening
ORPHANET:648	A2ML1	144568	HP:0000465	Webbed neck
ORPHANET:648	A2ML1	144568	HP:0001252	Muscular hypotonia
ORPHANET:648	A2ML1	144568	HP:0000639	Nystagmus
ORPHANET:648	A2ML1	144568	HP:0000767	Pectus excavatum
ORPHANET:648	A2ML1	144568	HP:0004404	Abnormality of the nipple
ORPHANET:648	A2ML1	144568	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	A2ML1	144568	HP:0000520	Proptosis
ORPHANET:648	A2ML1	144568	HP:0100625	Enlarged thorax
ORPHANET:648	A2ML1	144568	HP:0000768	Pectus carinatum
ORPHANET:648	A2ML1	144568	HP:0004322	Short stature
ORPHANET:648	A2ML1	144568	HP:0011362	Abnormal hair quantity
ORPHANET:648	A2ML1	144568	HP:0002974	Radioulnar synostosis
ORPHANET:648	A2ML1	144568	HP:0001156	Brachydactyly syndrome
ORPHANET:648	A2ML1	144568	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	A2ML1	144568	HP:0000347	Micrognathia
ORPHANET:648	A2ML1	144568	HP:0001004	Lymphedema
ORPHANET:648	A2ML1	144568	HP:0000179	Thick lower lip vermilion
ORPHANET:648	A2ML1	144568	HP:0001382	Joint hypermobility
ORPHANET:648	A2ML1	144568	HP:0000508	Ptosis
ORPHANET:648	A2ML1	144568	HP:0001743	Abnormality of the spleen
ORPHANET:648	A2ML1	144568	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	A2ML1	144568	HP:0011039	Abnormality of the helix
ORPHANET:648	A2ML1	144568	HP:0000476	Cystic hygroma
ORPHANET:648	A2ML1	144568	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	A2ML1	144568	HP:0000325	Triangular face
ORPHANET:648	A2ML1	144568	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	A2ML1	144568	HP:0000316	Hypertelorism
ORPHANET:648	A2ML1	144568	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	A2ML1	144568	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	A2ML1	144568	HP:0002750	Delayed skeletal maturation
ORPHANET:648	A2ML1	144568	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	A2ML1	144568	HP:0001324	Muscle weakness
ORPHANET:648	A2ML1	144568	HP:0002208	Coarse hair
ORPHANET:648	A2ML1	144568	HP:0002162	Low posterior hairline
ORPHANET:648	A2ML1	144568	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	A2ML1	144568	HP:0000995	Melanocytic nevus
ORPHANET:648	A2ML1	144568	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	A2ML1	144568	HP:0002240	Hepatomegaly
ORPHANET:648	A2ML1	144568	HP:0000174	Abnormality of the palate
ORPHANET:648	A2ML1	144568	HP:0002167	Neurological speech impairment
ORPHANET:648	A2ML1	144568	HP:0001928	Abnormality of coagulation
ORPHANET:648	A2ML1	144568	HP:0000486	Strabismus
ORPHANET:648	A2ML1	144568	HP:0000348	High forehead
ORPHANET:648	A2ML1	144568	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	A2ML1	144568	HP:0000028	Cryptorchidism
ORPHANET:648	A2ML1	144568	HP:0002650	Scoliosis
ORPHANET:648	A2ML1	144568	HP:0011675	Arrhythmia
ORPHANET:648	A2ML1	144568	HP:0000272	Malar flattening
ORPHANET:648	NRAS	4893	HP:0000465	Webbed neck
ORPHANET:648	NRAS	4893	HP:0001252	Muscular hypotonia
ORPHANET:648	NRAS	4893	HP:0000639	Nystagmus
ORPHANET:648	NRAS	4893	HP:0000767	Pectus excavatum
ORPHANET:648	NRAS	4893	HP:0004404	Abnormality of the nipple
ORPHANET:648	NRAS	4893	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	NRAS	4893	HP:0000520	Proptosis
ORPHANET:648	NRAS	4893	HP:0100625	Enlarged thorax
ORPHANET:648	NRAS	4893	HP:0000768	Pectus carinatum
ORPHANET:648	NRAS	4893	HP:0004322	Short stature
ORPHANET:648	NRAS	4893	HP:0011362	Abnormal hair quantity
ORPHANET:648	NRAS	4893	HP:0002974	Radioulnar synostosis
ORPHANET:648	NRAS	4893	HP:0001156	Brachydactyly syndrome
ORPHANET:648	NRAS	4893	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	NRAS	4893	HP:0000347	Micrognathia
ORPHANET:648	NRAS	4893	HP:0001004	Lymphedema
ORPHANET:648	NRAS	4893	HP:0000179	Thick lower lip vermilion
ORPHANET:648	NRAS	4893	HP:0001382	Joint hypermobility
ORPHANET:648	NRAS	4893	HP:0000508	Ptosis
ORPHANET:648	NRAS	4893	HP:0001743	Abnormality of the spleen
ORPHANET:648	NRAS	4893	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	NRAS	4893	HP:0011039	Abnormality of the helix
ORPHANET:648	NRAS	4893	HP:0000476	Cystic hygroma
ORPHANET:648	NRAS	4893	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	NRAS	4893	HP:0000325	Triangular face
ORPHANET:648	NRAS	4893	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	NRAS	4893	HP:0000316	Hypertelorism
ORPHANET:648	NRAS	4893	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	NRAS	4893	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	NRAS	4893	HP:0002750	Delayed skeletal maturation
ORPHANET:648	NRAS	4893	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	NRAS	4893	HP:0001324	Muscle weakness
ORPHANET:648	NRAS	4893	HP:0002208	Coarse hair
ORPHANET:648	NRAS	4893	HP:0002162	Low posterior hairline
ORPHANET:648	NRAS	4893	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	NRAS	4893	HP:0000995	Melanocytic nevus
ORPHANET:648	NRAS	4893	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	NRAS	4893	HP:0002240	Hepatomegaly
ORPHANET:648	NRAS	4893	HP:0000174	Abnormality of the palate
ORPHANET:648	NRAS	4893	HP:0002167	Neurological speech impairment
ORPHANET:648	NRAS	4893	HP:0001928	Abnormality of coagulation
ORPHANET:648	NRAS	4893	HP:0000486	Strabismus
ORPHANET:648	NRAS	4893	HP:0000348	High forehead
ORPHANET:648	NRAS	4893	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	NRAS	4893	HP:0000028	Cryptorchidism
ORPHANET:648	NRAS	4893	HP:0002650	Scoliosis
ORPHANET:648	NRAS	4893	HP:0011675	Arrhythmia
ORPHANET:648	NRAS	4893	HP:0000272	Malar flattening
ORPHANET:648	SOS1	6654	HP:0000465	Webbed neck
ORPHANET:648	SOS1	6654	HP:0001252	Muscular hypotonia
ORPHANET:648	SOS1	6654	HP:0000639	Nystagmus
ORPHANET:648	SOS1	6654	HP:0000767	Pectus excavatum
ORPHANET:648	SOS1	6654	HP:0004404	Abnormality of the nipple
ORPHANET:648	SOS1	6654	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	SOS1	6654	HP:0000520	Proptosis
ORPHANET:648	SOS1	6654	HP:0100625	Enlarged thorax
ORPHANET:648	SOS1	6654	HP:0000768	Pectus carinatum
ORPHANET:648	SOS1	6654	HP:0004322	Short stature
ORPHANET:648	SOS1	6654	HP:0011362	Abnormal hair quantity
ORPHANET:648	SOS1	6654	HP:0002974	Radioulnar synostosis
ORPHANET:648	SOS1	6654	HP:0001156	Brachydactyly syndrome
ORPHANET:648	SOS1	6654	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	SOS1	6654	HP:0000347	Micrognathia
ORPHANET:648	SOS1	6654	HP:0001004	Lymphedema
ORPHANET:648	SOS1	6654	HP:0000179	Thick lower lip vermilion
ORPHANET:648	SOS1	6654	HP:0001382	Joint hypermobility
ORPHANET:648	SOS1	6654	HP:0000508	Ptosis
ORPHANET:648	SOS1	6654	HP:0001743	Abnormality of the spleen
ORPHANET:648	SOS1	6654	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	SOS1	6654	HP:0011039	Abnormality of the helix
ORPHANET:648	SOS1	6654	HP:0000476	Cystic hygroma
ORPHANET:648	SOS1	6654	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	SOS1	6654	HP:0000325	Triangular face
ORPHANET:648	SOS1	6654	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	SOS1	6654	HP:0000316	Hypertelorism
ORPHANET:648	SOS1	6654	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	SOS1	6654	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	SOS1	6654	HP:0002750	Delayed skeletal maturation
ORPHANET:648	SOS1	6654	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	SOS1	6654	HP:0001324	Muscle weakness
ORPHANET:648	SOS1	6654	HP:0002208	Coarse hair
ORPHANET:648	SOS1	6654	HP:0002162	Low posterior hairline
ORPHANET:648	SOS1	6654	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	SOS1	6654	HP:0000995	Melanocytic nevus
ORPHANET:648	SOS1	6654	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	SOS1	6654	HP:0002240	Hepatomegaly
ORPHANET:648	SOS1	6654	HP:0000174	Abnormality of the palate
ORPHANET:648	SOS1	6654	HP:0002167	Neurological speech impairment
ORPHANET:648	SOS1	6654	HP:0001928	Abnormality of coagulation
ORPHANET:648	SOS1	6654	HP:0000486	Strabismus
ORPHANET:648	SOS1	6654	HP:0000348	High forehead
ORPHANET:648	SOS1	6654	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	SOS1	6654	HP:0000028	Cryptorchidism
ORPHANET:648	SOS1	6654	HP:0002650	Scoliosis
ORPHANET:648	SOS1	6654	HP:0011675	Arrhythmia
ORPHANET:648	SOS1	6654	HP:0000272	Malar flattening
ORPHANET:648	SOS2	6655	HP:0000465	Webbed neck
ORPHANET:648	SOS2	6655	HP:0001252	Muscular hypotonia
ORPHANET:648	SOS2	6655	HP:0000639	Nystagmus
ORPHANET:648	SOS2	6655	HP:0000767	Pectus excavatum
ORPHANET:648	SOS2	6655	HP:0004404	Abnormality of the nipple
ORPHANET:648	SOS2	6655	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:648	SOS2	6655	HP:0000520	Proptosis
ORPHANET:648	SOS2	6655	HP:0100625	Enlarged thorax
ORPHANET:648	SOS2	6655	HP:0000768	Pectus carinatum
ORPHANET:648	SOS2	6655	HP:0004322	Short stature
ORPHANET:648	SOS2	6655	HP:0011362	Abnormal hair quantity
ORPHANET:648	SOS2	6655	HP:0002974	Radioulnar synostosis
ORPHANET:648	SOS2	6655	HP:0001156	Brachydactyly syndrome
ORPHANET:648	SOS2	6655	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:648	SOS2	6655	HP:0000347	Micrognathia
ORPHANET:648	SOS2	6655	HP:0001004	Lymphedema
ORPHANET:648	SOS2	6655	HP:0000179	Thick lower lip vermilion
ORPHANET:648	SOS2	6655	HP:0001382	Joint hypermobility
ORPHANET:648	SOS2	6655	HP:0000508	Ptosis
ORPHANET:648	SOS2	6655	HP:0001743	Abnormality of the spleen
ORPHANET:648	SOS2	6655	HP:0007477	Abnormal dermatoglyphics
ORPHANET:648	SOS2	6655	HP:0011039	Abnormality of the helix
ORPHANET:648	SOS2	6655	HP:0000476	Cystic hygroma
ORPHANET:648	SOS2	6655	HP:0008872	Feeding difficulties in infancy
ORPHANET:648	SOS2	6655	HP:0000325	Triangular face
ORPHANET:648	SOS2	6655	HP:0000494	Downslanted palpebral fissures
ORPHANET:648	SOS2	6655	HP:0000316	Hypertelorism
ORPHANET:648	SOS2	6655	HP:0001872	Abnormality of thrombocytes
ORPHANET:648	SOS2	6655	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:648	SOS2	6655	HP:0002750	Delayed skeletal maturation
ORPHANET:648	SOS2	6655	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:648	SOS2	6655	HP:0001324	Muscle weakness
ORPHANET:648	SOS2	6655	HP:0002208	Coarse hair
ORPHANET:648	SOS2	6655	HP:0002162	Low posterior hairline
ORPHANET:648	SOS2	6655	HP:0000407	Sensorineural hearing impairment
ORPHANET:648	SOS2	6655	HP:0000995	Melanocytic nevus
ORPHANET:648	SOS2	6655	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:648	SOS2	6655	HP:0002240	Hepatomegaly
ORPHANET:648	SOS2	6655	HP:0000174	Abnormality of the palate
ORPHANET:648	SOS2	6655	HP:0002167	Neurological speech impairment
ORPHANET:648	SOS2	6655	HP:0001928	Abnormality of coagulation
ORPHANET:648	SOS2	6655	HP:0000486	Strabismus
ORPHANET:648	SOS2	6655	HP:0000348	High forehead
ORPHANET:648	SOS2	6655	HP:0000474	Thickened nuchal skin fold
ORPHANET:648	SOS2	6655	HP:0000028	Cryptorchidism
ORPHANET:648	SOS2	6655	HP:0002650	Scoliosis
ORPHANET:648	SOS2	6655	HP:0011675	Arrhythmia
ORPHANET:648	SOS2	6655	HP:0000272	Malar flattening
OMIM:276700	FAH	2184	HP:0001744	Splenomegaly
OMIM:276700	FAH	2184	HP:0004348	Abnormality of bone mineral density
OMIM:276700	FAH	2184	HP:0002239	Gastrointestinal hemorrhage
OMIM:276700	FAH	2184	HP:0002910	Elevated hepatic transaminases
OMIM:276700	FAH	2184	HP:0002240	Hepatomegaly
OMIM:276700	FAH	2184	HP:0001892	Abnormal bleeding
OMIM:276700	FAH	2184	HP:0001943	Hypoglycemia
OMIM:276700	FAH	2184	HP:0000121	Nephrocalcinosis
OMIM:276700	FAH	2184	HP:0003231	Hypertyrosinemia
OMIM:276700	FAH	2184	HP:0000083	Renal insufficiency
OMIM:276700	FAH	2184	HP:0003235	Hypermethioninemia
OMIM:276700	FAH	2184	HP:0003355	Aminoaciduria
OMIM:276700	FAH	2184	HP:0001508	Failure to thrive
OMIM:276700	FAH	2184	HP:0001743	Abnormality of the spleen
OMIM:276700	FAH	2184	HP:0001639	Hypertrophic cardiomyopathy
OMIM:276700	FAH	2184	HP:0004298	Abnormality of the abdominal wall
OMIM:276700	FAH	2184	HP:0000007	Autosomal recessive inheritance
OMIM:276700	FAH	2184	HP:0000096	Glomerulosclerosis
OMIM:276700	FAH	2184	HP:0001541	Ascites
OMIM:276700	FAH	2184	HP:0001394	Cirrhosis
OMIM:616507	SPARC	6678	HP:0000977	Soft skin
OMIM:616507	SPARC	6678	HP:0000750	Delayed speech and language development
OMIM:616507	SPARC	6678	HP:0004322	Short stature
OMIM:616507	SPARC	6678	HP:0001324	Muscle weakness
OMIM:616507	SPARC	6678	HP:0002650	Scoliosis
OMIM:616507	SPARC	6678	HP:0000939	Osteoporosis
OMIM:616507	SPARC	6678	HP:0001270	Motor delay
OMIM:616507	SPARC	6678	HP:0001252	Muscular hypotonia
OMIM:616507	PPIB	5479	HP:0000977	Soft skin
OMIM:616507	PPIB	5479	HP:0000750	Delayed speech and language development
OMIM:616507	PPIB	5479	HP:0004322	Short stature
OMIM:616507	PPIB	5479	HP:0001324	Muscle weakness
OMIM:616507	PPIB	5479	HP:0002650	Scoliosis
OMIM:616507	PPIB	5479	HP:0000939	Osteoporosis
OMIM:616507	PPIB	5479	HP:0001270	Motor delay
OMIM:616507	PPIB	5479	HP:0001252	Muscular hypotonia
OMIM:616507	SERPINF1	5176	HP:0000977	Soft skin
OMIM:616507	SERPINF1	5176	HP:0000750	Delayed speech and language development
OMIM:616507	SERPINF1	5176	HP:0004322	Short stature
OMIM:616507	SERPINF1	5176	HP:0001324	Muscle weakness
OMIM:616507	SERPINF1	5176	HP:0002650	Scoliosis
OMIM:616507	SERPINF1	5176	HP:0000939	Osteoporosis
OMIM:616507	SERPINF1	5176	HP:0001270	Motor delay
OMIM:616507	SERPINF1	5176	HP:0001252	Muscular hypotonia
OMIM:616507	FKBP10	60681	HP:0000977	Soft skin
OMIM:616507	FKBP10	60681	HP:0000750	Delayed speech and language development
OMIM:616507	FKBP10	60681	HP:0004322	Short stature
OMIM:616507	FKBP10	60681	HP:0001324	Muscle weakness
OMIM:616507	FKBP10	60681	HP:0002650	Scoliosis
OMIM:616507	FKBP10	60681	HP:0000939	Osteoporosis
OMIM:616507	FKBP10	60681	HP:0001270	Motor delay
OMIM:616507	FKBP10	60681	HP:0001252	Muscular hypotonia
OMIM:616507	CRTAP	10491	HP:0000977	Soft skin
OMIM:616507	CRTAP	10491	HP:0000750	Delayed speech and language development
OMIM:616507	CRTAP	10491	HP:0004322	Short stature
OMIM:616507	CRTAP	10491	HP:0001324	Muscle weakness
OMIM:616507	CRTAP	10491	HP:0002650	Scoliosis
OMIM:616507	CRTAP	10491	HP:0000939	Osteoporosis
OMIM:616507	CRTAP	10491	HP:0001270	Motor delay
OMIM:616507	CRTAP	10491	HP:0001252	Muscular hypotonia
OMIM:616507	COL1A1	1277	HP:0000977	Soft skin
OMIM:616507	COL1A1	1277	HP:0000750	Delayed speech and language development
OMIM:616507	COL1A1	1277	HP:0004322	Short stature
OMIM:616507	COL1A1	1277	HP:0001324	Muscle weakness
OMIM:616507	COL1A1	1277	HP:0002650	Scoliosis
OMIM:616507	COL1A1	1277	HP:0000939	Osteoporosis
OMIM:616507	COL1A1	1277	HP:0001270	Motor delay
OMIM:616507	COL1A1	1277	HP:0001252	Muscular hypotonia
OMIM:616507	SP7	121340	HP:0000977	Soft skin
OMIM:616507	SP7	121340	HP:0000750	Delayed speech and language development
OMIM:616507	SP7	121340	HP:0004322	Short stature
OMIM:616507	SP7	121340	HP:0001324	Muscle weakness
OMIM:616507	SP7	121340	HP:0002650	Scoliosis
OMIM:616507	SP7	121340	HP:0000939	Osteoporosis
OMIM:616507	SP7	121340	HP:0001270	Motor delay
OMIM:616507	SP7	121340	HP:0001252	Muscular hypotonia
OMIM:616507	COL1A2	1278	HP:0000977	Soft skin
OMIM:616507	COL1A2	1278	HP:0000750	Delayed speech and language development
OMIM:616507	COL1A2	1278	HP:0004322	Short stature
OMIM:616507	COL1A2	1278	HP:0001324	Muscle weakness
OMIM:616507	COL1A2	1278	HP:0002650	Scoliosis
OMIM:616507	COL1A2	1278	HP:0000939	Osteoporosis
OMIM:616507	COL1A2	1278	HP:0001270	Motor delay
OMIM:616507	COL1A2	1278	HP:0001252	Muscular hypotonia
OMIM:616507	TMEM38B	55151	HP:0000977	Soft skin
OMIM:616507	TMEM38B	55151	HP:0000750	Delayed speech and language development
OMIM:616507	TMEM38B	55151	HP:0004322	Short stature
OMIM:616507	TMEM38B	55151	HP:0001324	Muscle weakness
OMIM:616507	TMEM38B	55151	HP:0002650	Scoliosis
OMIM:616507	TMEM38B	55151	HP:0000939	Osteoporosis
OMIM:616507	TMEM38B	55151	HP:0001270	Motor delay
OMIM:616507	TMEM38B	55151	HP:0001252	Muscular hypotonia
OMIM:616507	WNT1	7471	HP:0000977	Soft skin
OMIM:616507	WNT1	7471	HP:0000750	Delayed speech and language development
OMIM:616507	WNT1	7471	HP:0004322	Short stature
OMIM:616507	WNT1	7471	HP:0001324	Muscle weakness
OMIM:616507	WNT1	7471	HP:0002650	Scoliosis
OMIM:616507	WNT1	7471	HP:0000939	Osteoporosis
OMIM:616507	WNT1	7471	HP:0001270	Motor delay
OMIM:616507	WNT1	7471	HP:0001252	Muscular hypotonia
OMIM:610297	PACRG	135138	HP:0002067	Bradykinesia
OMIM:610297	PACRG	135138	HP:0001337	Tremor
OMIM:610297	PACRG	135138	HP:0002063	Rigidity
OMIM:610297	PACRG	135138	HP:0000006	Autosomal dominant inheritance
OMIM:610297	UCHL1	7345	HP:0002067	Bradykinesia
OMIM:610297	UCHL1	7345	HP:0001337	Tremor
OMIM:610297	UCHL1	7345	HP:0002063	Rigidity
OMIM:610297	UCHL1	7345	HP:0000006	Autosomal dominant inheritance
OMIM:610297	PARK7	11315	HP:0002067	Bradykinesia
OMIM:610297	PARK7	11315	HP:0001337	Tremor
OMIM:610297	PARK7	11315	HP:0002063	Rigidity
OMIM:610297	PARK7	11315	HP:0000006	Autosomal dominant inheritance
OMIM:610297	HTRA2	27429	HP:0002067	Bradykinesia
OMIM:610297	HTRA2	27429	HP:0001337	Tremor
OMIM:610297	HTRA2	27429	HP:0002063	Rigidity
OMIM:610297	HTRA2	27429	HP:0000006	Autosomal dominant inheritance
OMIM:610297	PINK1	65018	HP:0002067	Bradykinesia
OMIM:610297	PINK1	65018	HP:0001337	Tremor
OMIM:610297	PINK1	65018	HP:0002063	Rigidity
OMIM:610297	PINK1	65018	HP:0000006	Autosomal dominant inheritance
OMIM:610297	LRRK2	120892	HP:0002067	Bradykinesia
OMIM:610297	LRRK2	120892	HP:0001337	Tremor
OMIM:610297	LRRK2	120892	HP:0002063	Rigidity
OMIM:610297	LRRK2	120892	HP:0000006	Autosomal dominant inheritance
OMIM:610297	SNCA	6622	HP:0002067	Bradykinesia
OMIM:610297	SNCA	6622	HP:0001337	Tremor
OMIM:610297	SNCA	6622	HP:0002063	Rigidity
OMIM:610297	SNCA	6622	HP:0000006	Autosomal dominant inheritance
OMIM:610297	PARK2	5071	HP:0002067	Bradykinesia
OMIM:610297	PARK2	5071	HP:0001337	Tremor
OMIM:610297	PARK2	5071	HP:0002063	Rigidity
OMIM:610297	PARK2	5071	HP:0000006	Autosomal dominant inheritance
OMIM:614327	BAP1	8314	HP:0007716	Intraocular melanoma
OMIM:614327	BAP1	8314	HP:0000006	Autosomal dominant inheritance
OMIM:614327	BAP1	8314	HP:0012056	Cutaneous melanoma
OMIM:614327	BAP1	8314	HP:0002858	Meningioma
OMIM:614494	RLBP1	6017	HP:0000622	Blurred vision
OMIM:614494	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:614494	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:614494	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:614494	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:614494	SPATA7	55812	HP:0000622	Blurred vision
OMIM:614494	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:614494	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:614494	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:614494	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:614494	ARL6	84100	HP:0000622	Blurred vision
OMIM:614494	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:614494	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:614494	ARL6	84100	HP:0000662	Nyctalopia
OMIM:614494	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:614494	CERKL	375298	HP:0000622	Blurred vision
OMIM:614494	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:614494	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:614494	CERKL	375298	HP:0000662	Nyctalopia
OMIM:614494	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:614494	PRPF31	26121	HP:0000622	Blurred vision
OMIM:614494	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:614494	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:614494	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:614494	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:614494	TTC8	123016	HP:0000622	Blurred vision
OMIM:614494	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:614494	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:614494	TTC8	123016	HP:0000662	Nyctalopia
OMIM:614494	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:614494	PROM1	8842	HP:0000622	Blurred vision
OMIM:614494	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:614494	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:614494	PROM1	8842	HP:0000662	Nyctalopia
OMIM:614494	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:614494	LRAT	9227	HP:0000622	Blurred vision
OMIM:614494	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:614494	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:614494	LRAT	9227	HP:0000662	Nyctalopia
OMIM:614494	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:614494	IFT140	9742	HP:0000622	Blurred vision
OMIM:614494	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:614494	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:614494	IFT140	9742	HP:0000662	Nyctalopia
OMIM:614494	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:614494	BEST1	7439	HP:0000622	Blurred vision
OMIM:614494	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:614494	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:614494	BEST1	7439	HP:0000662	Nyctalopia
OMIM:614494	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:614494	NEK2	4751	HP:0000622	Blurred vision
OMIM:614494	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:614494	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:614494	NEK2	4751	HP:0000662	Nyctalopia
OMIM:614494	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:614494	ARL2BP	23568	HP:0000622	Blurred vision
OMIM:614494	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:614494	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:614494	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:614494	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:614494	NR2E3	10002	HP:0000622	Blurred vision
OMIM:614494	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:614494	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:614494	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:614494	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:614494	EYS	346007	HP:0000622	Blurred vision
OMIM:614494	EYS	346007	HP:0000543	Optic disc pallor
OMIM:614494	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:614494	EYS	346007	HP:0000662	Nyctalopia
OMIM:614494	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:614494	MAK	4117	HP:0000622	Blurred vision
OMIM:614494	MAK	4117	HP:0000543	Optic disc pallor
OMIM:614494	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:614494	MAK	4117	HP:0000662	Nyctalopia
OMIM:614494	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:614494	SAG	6295	HP:0000622	Blurred vision
OMIM:614494	SAG	6295	HP:0000543	Optic disc pallor
OMIM:614494	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:614494	SAG	6295	HP:0000662	Nyctalopia
OMIM:614494	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:614494	ABCA4	24	HP:0000622	Blurred vision
OMIM:614494	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:614494	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:614494	ABCA4	24	HP:0000662	Nyctalopia
OMIM:614494	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:614494	PDE6A	5145	HP:0000622	Blurred vision
OMIM:614494	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:614494	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:614494	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:614494	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:614494	PDE6G	5148	HP:0000622	Blurred vision
OMIM:614494	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:614494	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:614494	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:614494	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:614494	IMPDH1	3614	HP:0000622	Blurred vision
OMIM:614494	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:614494	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:614494	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:614494	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:614494	OFD1	8481	HP:0000622	Blurred vision
OMIM:614494	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:614494	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:614494	OFD1	8481	HP:0000662	Nyctalopia
OMIM:614494	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:614494	GUCA1B	2979	HP:0000622	Blurred vision
OMIM:614494	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:614494	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:614494	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:614494	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:614494	NRL	4901	HP:0000622	Blurred vision
OMIM:614494	NRL	4901	HP:0000543	Optic disc pallor
OMIM:614494	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:614494	NRL	4901	HP:0000662	Nyctalopia
OMIM:614494	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:614494	PDE6B	5158	HP:0000622	Blurred vision
OMIM:614494	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:614494	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:614494	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:614494	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:614494	KLHL7	55975	HP:0000622	Blurred vision
OMIM:614494	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:614494	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:614494	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:614494	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:614494	PRPF4	9128	HP:0000622	Blurred vision
OMIM:614494	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:614494	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:614494	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:614494	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:614494	PRPF3	9129	HP:0000622	Blurred vision
OMIM:614494	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:614494	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:614494	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:614494	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:614494	FAM161A	84140	HP:0000622	Blurred vision
OMIM:614494	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:614494	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:614494	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:614494	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:614494	IFT172	26160	HP:0000622	Blurred vision
OMIM:614494	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:614494	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:614494	IFT172	26160	HP:0000662	Nyctalopia
OMIM:614494	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:614494	KIZ	55857	HP:0000622	Blurred vision
OMIM:614494	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:614494	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:614494	KIZ	55857	HP:0000662	Nyctalopia
OMIM:614494	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:614494	CDHR1	92211	HP:0000622	Blurred vision
OMIM:614494	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:614494	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:614494	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:614494	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:614494	ZNF408	79797	HP:0000622	Blurred vision
OMIM:614494	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:614494	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:614494	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:614494	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:614494	RBP3	5949	HP:0000622	Blurred vision
OMIM:614494	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:614494	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:614494	RBP3	5949	HP:0000662	Nyctalopia
OMIM:614494	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:614494	HGSNAT	138050	HP:0000622	Blurred vision
OMIM:614494	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:614494	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:614494	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:614494	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:614494	FSCN2	25794	HP:0000622	Blurred vision
OMIM:614494	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:614494	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:614494	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:614494	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:614494	PRCD	768206	HP:0000622	Blurred vision
OMIM:614494	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:614494	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:614494	PRCD	768206	HP:0000662	Nyctalopia
OMIM:614494	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:614494	BBS2	583	HP:0000622	Blurred vision
OMIM:614494	BBS2	583	HP:0000543	Optic disc pallor
OMIM:614494	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:614494	BBS2	583	HP:0000662	Nyctalopia
OMIM:614494	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:614494	RDH12	145226	HP:0000622	Blurred vision
OMIM:614494	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:614494	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:614494	RDH12	145226	HP:0000662	Nyctalopia
OMIM:614494	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:614494	PRPH2	5961	HP:0000622	Blurred vision
OMIM:614494	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:614494	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:614494	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:614494	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:614494	DHDDS	79947	HP:0000622	Blurred vision
OMIM:614494	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:614494	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:614494	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:614494	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:614494	ROM1	6094	HP:0000622	Blurred vision
OMIM:614494	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:614494	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:614494	ROM1	6094	HP:0000662	Nyctalopia
OMIM:614494	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:614494	C2ORF71	388939	HP:0000622	Blurred vision
OMIM:614494	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:614494	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:614494	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:614494	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:614494	RP9	6100	HP:0000622	Blurred vision
OMIM:614494	RP9	6100	HP:0000543	Optic disc pallor
OMIM:614494	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:614494	RP9	6100	HP:0000662	Nyctalopia
OMIM:614494	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:614494	PRPF6	24148	HP:0000622	Blurred vision
OMIM:614494	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:614494	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:614494	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:614494	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:614494	RP1	6101	HP:0000622	Blurred vision
OMIM:614494	RP1	6101	HP:0000543	Optic disc pallor
OMIM:614494	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:614494	RP1	6101	HP:0000662	Nyctalopia
OMIM:614494	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:614494	RP2	6102	HP:0000622	Blurred vision
OMIM:614494	RP2	6102	HP:0000543	Optic disc pallor
OMIM:614494	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:614494	RP2	6102	HP:0000662	Nyctalopia
OMIM:614494	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:614494	RPGR	6103	HP:0000622	Blurred vision
OMIM:614494	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:614494	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:614494	RPGR	6103	HP:0000662	Nyctalopia
OMIM:614494	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:614494	SEMA4A	64218	HP:0000622	Blurred vision
OMIM:614494	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:614494	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:614494	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:614494	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:614494	C8ORF37	157657	HP:0000622	Blurred vision
OMIM:614494	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:614494	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:614494	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:614494	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:614494	IDH3B	3420	HP:0000622	Blurred vision
OMIM:614494	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:614494	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:614494	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:614494	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:614494	MERTK	10461	HP:0000622	Blurred vision
OMIM:614494	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:614494	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:614494	MERTK	10461	HP:0000662	Nyctalopia
OMIM:614494	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:614494	PRPF8	10594	HP:0000622	Blurred vision
OMIM:614494	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:614494	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:614494	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:614494	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:614494	TOPORS	10210	HP:0000622	Blurred vision
OMIM:614494	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:614494	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:614494	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:614494	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:614494	USH2A	7399	HP:0000622	Blurred vision
OMIM:614494	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:614494	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:614494	USH2A	7399	HP:0000662	Nyctalopia
OMIM:614494	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:614494	RPE65	6121	HP:0000622	Blurred vision
OMIM:614494	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:614494	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:614494	RPE65	6121	HP:0000662	Nyctalopia
OMIM:614494	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:614494	CLRN1	7401	HP:0000622	Blurred vision
OMIM:614494	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:614494	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:614494	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:614494	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:614494	CNGB1	1258	HP:0000622	Blurred vision
OMIM:614494	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:614494	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:614494	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:614494	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:614494	RGR	5995	HP:0000622	Blurred vision
OMIM:614494	RGR	5995	HP:0000543	Optic disc pallor
OMIM:614494	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:614494	RGR	5995	HP:0000662	Nyctalopia
OMIM:614494	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:614494	CNGA1	1259	HP:0000622	Blurred vision
OMIM:614494	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:614494	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:614494	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:614494	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:614494	TUB	7275	HP:0000622	Blurred vision
OMIM:614494	TUB	7275	HP:0000543	Optic disc pallor
OMIM:614494	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:614494	TUB	7275	HP:0000662	Nyctalopia
OMIM:614494	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:614494	SNRNP200	23020	HP:0000622	Blurred vision
OMIM:614494	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:614494	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:614494	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:614494	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:614494	SLC7A14	57709	HP:0000622	Blurred vision
OMIM:614494	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:614494	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:614494	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:614494	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:614494	TULP1	7287	HP:0000622	Blurred vision
OMIM:614494	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:614494	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:614494	TULP1	7287	HP:0000662	Nyctalopia
OMIM:614494	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:614494	RHO	6010	HP:0000622	Blurred vision
OMIM:614494	RHO	6010	HP:0000543	Optic disc pallor
OMIM:614494	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:614494	RHO	6010	HP:0000662	Nyctalopia
OMIM:614494	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:614494	CA4	762	HP:0000622	Blurred vision
OMIM:614494	CA4	762	HP:0000543	Optic disc pallor
OMIM:614494	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:614494	CA4	762	HP:0000662	Nyctalopia
OMIM:614494	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:614494	CRB1	23418	HP:0000622	Blurred vision
OMIM:614494	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:614494	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:614494	CRB1	23418	HP:0000662	Nyctalopia
OMIM:614494	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:614494	IMPG2	50939	HP:0000622	Blurred vision
OMIM:614494	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:614494	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:614494	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:614494	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:614494	ZNF513	130557	HP:0000622	Blurred vision
OMIM:614494	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:614494	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:614494	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:614494	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:614494	CRX	1406	HP:0000622	Blurred vision
OMIM:614494	CRX	1406	HP:0000543	Optic disc pallor
OMIM:614494	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:614494	CRX	1406	HP:0000662	Nyctalopia
OMIM:614494	CRX	1406	HP:0000006	Autosomal dominant inheritance
ORPHANET:2598	PUS1	80324	HP:0002808	Kyphosis
ORPHANET:2598	PUS1	80324	HP:0000501	Glaucoma
ORPHANET:2598	PUS1	80324	HP:0003198	Myopathy
ORPHANET:2598	PUS1	80324	HP:0000174	Abnormality of the palate
ORPHANET:2598	PUS1	80324	HP:0003457	EMG abnormality
ORPHANET:2598	PUS1	80324	HP:0000343	Long philtrum
ORPHANET:2598	PUS1	80324	HP:0000347	Micrognathia
ORPHANET:2598	PUS1	80324	HP:0000252	Microcephaly
ORPHANET:2598	PUS1	80324	HP:0003196	Short nose
ORPHANET:2598	PUS1	80324	HP:0001903	Anemia
ORPHANET:2598	PUS1	80324	HP:0000078	Abnormality of the genital system
ORPHANET:2598	PUS1	80324	HP:0100543	Cognitive impairment
ORPHANET:2598	PUS1	80324	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:2598	PUS1	80324	HP:0001252	Muscular hypotonia
ORPHANET:2598	PUS1	80324	HP:0002650	Scoliosis
ORPHANET:2598	PUS1	80324	HP:0003202	Skeletal muscle atrophy
ORPHANET:2598	YARS2	51067	HP:0002808	Kyphosis
ORPHANET:2598	YARS2	51067	HP:0000501	Glaucoma
ORPHANET:2598	YARS2	51067	HP:0003198	Myopathy
ORPHANET:2598	YARS2	51067	HP:0000174	Abnormality of the palate
ORPHANET:2598	YARS2	51067	HP:0003457	EMG abnormality
ORPHANET:2598	YARS2	51067	HP:0000343	Long philtrum
ORPHANET:2598	YARS2	51067	HP:0000347	Micrognathia
ORPHANET:2598	YARS2	51067	HP:0000252	Microcephaly
ORPHANET:2598	YARS2	51067	HP:0003196	Short nose
ORPHANET:2598	YARS2	51067	HP:0001903	Anemia
ORPHANET:2598	YARS2	51067	HP:0000078	Abnormality of the genital system
ORPHANET:2598	YARS2	51067	HP:0100543	Cognitive impairment
ORPHANET:2598	YARS2	51067	HP:0001939	Abnormality of metabolism/homeostasis
ORPHANET:2598	YARS2	51067	HP:0001252	Muscular hypotonia
ORPHANET:2598	YARS2	51067	HP:0002650	Scoliosis
ORPHANET:2598	YARS2	51067	HP:0003202	Skeletal muscle atrophy
OMIM:613977	HBG2	3048	HP:0002240	Hepatomegaly
OMIM:613977	HBG2	3048	HP:0000961	Cyanosis
OMIM:613977	HBG2	3048	HP:0000952	Jaundice
OMIM:613977	HBG2	3048	HP:0001923	Reticulocytosis
OMIM:613977	HBG2	3048	HP:0003577	Congenital onset
OMIM:613977	HBG2	3048	HP:0000006	Autosomal dominant inheritance
OMIM:613977	HBG2	3048	HP:0001903	Anemia
OMIM:614195	VSX1	30813	HP:0000006	Autosomal dominant inheritance
OMIM:614195	VSX1	30813	HP:0000316	Hypertelorism
OMIM:614195	VSX1	30813	HP:0000238	Hydrocephalus
OMIM:614195	VSX1	30813	HP:0000512	Abnormal electroretinogram
OMIM:614195	VSX1	30813	HP:0007291	Posterior fossa cyst
OMIM:614195	VSX1	30813	HP:0000356	Abnormality of the outer ear
OMIM:614619	SLC6A5	9152	HP:0000007	Autosomal recessive inheritance
OMIM:614619	SLC6A5	9152	HP:0000565	Esotropia
OMIM:614619	SLC6A5	9152	HP:0001276	Hypertonia
OMIM:614619	SLC6A5	9152	HP:0002267	Exaggerated startle response
OMIM:614619	GPHN	10243	HP:0000007	Autosomal recessive inheritance
OMIM:614619	GPHN	10243	HP:0000565	Esotropia
OMIM:614619	GPHN	10243	HP:0001276	Hypertonia
OMIM:614619	GPHN	10243	HP:0002267	Exaggerated startle response
OMIM:614619	GLRA1	2741	HP:0000007	Autosomal recessive inheritance
OMIM:614619	GLRA1	2741	HP:0000565	Esotropia
OMIM:614619	GLRA1	2741	HP:0001276	Hypertonia
OMIM:614619	GLRA1	2741	HP:0002267	Exaggerated startle response
OMIM:614619	GLRB	2743	HP:0000007	Autosomal recessive inheritance
OMIM:614619	GLRB	2743	HP:0000565	Esotropia
OMIM:614619	GLRB	2743	HP:0001276	Hypertonia
OMIM:614619	GLRB	2743	HP:0002267	Exaggerated startle response
OMIM:607485	GRN	2896	HP:0002120	Cerebral cortical atrophy
OMIM:607485	GRN	2896	HP:0002529	Neuronal loss in central nervous system
OMIM:607485	GRN	2896	HP:0002171	Gliosis
OMIM:607485	GRN	2896	HP:0000738	Hallucinations
OMIM:607485	GRN	2896	HP:0002357	Dysphasia
OMIM:607485	GRN	2896	HP:0000741	Apathy
OMIM:607485	GRN	2896	HP:0000713	Agitation
OMIM:607485	GRN	2896	HP:0000006	Autosomal dominant inheritance
OMIM:607485	GRN	2896	HP:0002354	Memory impairment
OMIM:607485	GRN	2896	HP:0002381	Aphasia
OMIM:607485	GRN	2896	HP:0001300	Parkinsonism
OMIM:607485	GRN	2896	HP:0002186	Apraxia
OMIM:607485	TREM2	54209	HP:0002120	Cerebral cortical atrophy
OMIM:607485	TREM2	54209	HP:0002529	Neuronal loss in central nervous system
OMIM:607485	TREM2	54209	HP:0002171	Gliosis
OMIM:607485	TREM2	54209	HP:0000738	Hallucinations
OMIM:607485	TREM2	54209	HP:0002357	Dysphasia
OMIM:607485	TREM2	54209	HP:0000741	Apathy
OMIM:607485	TREM2	54209	HP:0000713	Agitation
OMIM:607485	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:607485	TREM2	54209	HP:0002354	Memory impairment
OMIM:607485	TREM2	54209	HP:0002381	Aphasia
OMIM:607485	TREM2	54209	HP:0001300	Parkinsonism
OMIM:607485	TREM2	54209	HP:0002186	Apraxia
OMIM:607485	VCP	7415	HP:0002120	Cerebral cortical atrophy
OMIM:607485	VCP	7415	HP:0002529	Neuronal loss in central nervous system
OMIM:607485	VCP	7415	HP:0002171	Gliosis
OMIM:607485	VCP	7415	HP:0000738	Hallucinations
OMIM:607485	VCP	7415	HP:0002357	Dysphasia
OMIM:607485	VCP	7415	HP:0000741	Apathy
OMIM:607485	VCP	7415	HP:0000713	Agitation
OMIM:607485	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:607485	VCP	7415	HP:0002354	Memory impairment
OMIM:607485	VCP	7415	HP:0002381	Aphasia
OMIM:607485	VCP	7415	HP:0001300	Parkinsonism
OMIM:607485	VCP	7415	HP:0002186	Apraxia
OMIM:607485	MAPT	4137	HP:0002120	Cerebral cortical atrophy
OMIM:607485	MAPT	4137	HP:0002529	Neuronal loss in central nervous system
OMIM:607485	MAPT	4137	HP:0002171	Gliosis
OMIM:607485	MAPT	4137	HP:0000738	Hallucinations
OMIM:607485	MAPT	4137	HP:0002357	Dysphasia
OMIM:607485	MAPT	4137	HP:0000741	Apathy
OMIM:607485	MAPT	4137	HP:0000713	Agitation
OMIM:607485	MAPT	4137	HP:0000006	Autosomal dominant inheritance
OMIM:607485	MAPT	4137	HP:0002354	Memory impairment
OMIM:607485	MAPT	4137	HP:0002381	Aphasia
OMIM:607485	MAPT	4137	HP:0001300	Parkinsonism
OMIM:607485	MAPT	4137	HP:0002186	Apraxia
OMIM:607485	CHMP2B	25978	HP:0002120	Cerebral cortical atrophy
OMIM:607485	CHMP2B	25978	HP:0002529	Neuronal loss in central nervous system
OMIM:607485	CHMP2B	25978	HP:0002171	Gliosis
OMIM:607485	CHMP2B	25978	HP:0000738	Hallucinations
OMIM:607485	CHMP2B	25978	HP:0002357	Dysphasia
OMIM:607485	CHMP2B	25978	HP:0000741	Apathy
OMIM:607485	CHMP2B	25978	HP:0000713	Agitation
OMIM:607485	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:607485	CHMP2B	25978	HP:0002354	Memory impairment
OMIM:607485	CHMP2B	25978	HP:0002381	Aphasia
OMIM:607485	CHMP2B	25978	HP:0001300	Parkinsonism
OMIM:607485	CHMP2B	25978	HP:0002186	Apraxia
OMIM:607485	PSEN1	5663	HP:0002120	Cerebral cortical atrophy
OMIM:607485	PSEN1	5663	HP:0002529	Neuronal loss in central nervous system
OMIM:607485	PSEN1	5663	HP:0002171	Gliosis
OMIM:607485	PSEN1	5663	HP:0000738	Hallucinations
OMIM:607485	PSEN1	5663	HP:0002357	Dysphasia
OMIM:607485	PSEN1	5663	HP:0000741	Apathy
OMIM:607485	PSEN1	5663	HP:0000713	Agitation
OMIM:607485	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:607485	PSEN1	5663	HP:0002354	Memory impairment
OMIM:607485	PSEN1	5663	HP:0002381	Aphasia
OMIM:607485	PSEN1	5663	HP:0001300	Parkinsonism
OMIM:607485	PSEN1	5663	HP:0002186	Apraxia
OMIM:607485	C9ORF72	203228	HP:0002120	Cerebral cortical atrophy
OMIM:607485	C9ORF72	203228	HP:0002529	Neuronal loss in central nervous system
OMIM:607485	C9ORF72	203228	HP:0002171	Gliosis
OMIM:607485	C9ORF72	203228	HP:0000738	Hallucinations
OMIM:607485	C9ORF72	203228	HP:0002357	Dysphasia
OMIM:607485	C9ORF72	203228	HP:0000741	Apathy
OMIM:607485	C9ORF72	203228	HP:0000713	Agitation
OMIM:607485	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:607485	C9ORF72	203228	HP:0002354	Memory impairment
OMIM:607485	C9ORF72	203228	HP:0002381	Aphasia
OMIM:607485	C9ORF72	203228	HP:0001300	Parkinsonism
OMIM:607485	C9ORF72	203228	HP:0002186	Apraxia
OMIM:614042	RNF213	57674	HP:0000006	Autosomal dominant inheritance
OMIM:614042	RNF213	57674	HP:0005111	Dilatation of the ascending aorta
OMIM:614042	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:614042	ACTA2	59	HP:0005111	Dilatation of the ascending aorta
OMIM:616083	ZMYND11	10771	HP:0000718	Aggressive behavior
OMIM:616083	ZMYND11	10771	HP:0001263	Global developmental delay
OMIM:616083	ZMYND11	10771	HP:0001999	Abnormal facial shape
OMIM:616083	ZMYND11	10771	HP:0001249	Intellectual disability
OMIM:616083	ZMYND11	10771	HP:0000154	Wide mouth
OMIM:616083	ZMYND11	10771	HP:0000316	Hypertelorism
OMIM:616083	SETBP1	26040	HP:0000718	Aggressive behavior
OMIM:616083	SETBP1	26040	HP:0001263	Global developmental delay
OMIM:616083	SETBP1	26040	HP:0001999	Abnormal facial shape
OMIM:616083	SETBP1	26040	HP:0001249	Intellectual disability
OMIM:616083	SETBP1	26040	HP:0000154	Wide mouth
OMIM:616083	SETBP1	26040	HP:0000316	Hypertelorism
OMIM:604250	TFR2	7036	HP:0000953	Hyperpigmentation of the skin
OMIM:604250	TFR2	7036	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:604250	TFR2	7036	HP:0002910	Elevated hepatic transaminases
OMIM:604250	TFR2	7036	HP:0000007	Autosomal recessive inheritance
OMIM:604250	TFR2	7036	HP:0001394	Cirrhosis
OMIM:610443	KANSL1	284058	HP:0000518	Cataract
OMIM:610443	KANSL1	284058	HP:0001646	Abnormality of the aortic valve
OMIM:610443	KANSL1	284058	HP:0000767	Pectus excavatum
OMIM:610443	KANSL1	284058	HP:0001518	Small for gestational age
OMIM:610443	KANSL1	284058	HP:0002650	Scoliosis
OMIM:610443	KANSL1	284058	HP:0001724	Aortic dilatation
OMIM:610443	KANSL1	284058	HP:0000582	Upslanted palpebral fissure
OMIM:610443	KANSL1	284058	HP:0000486	Strabismus
OMIM:610443	KANSL1	284058	HP:0000028	Cryptorchidism
OMIM:610443	KANSL1	284058	HP:0002021	Pyloric stenosis
OMIM:610443	KANSL1	284058	HP:0000204	Cleft upper lip
OMIM:610443	KANSL1	284058	HP:0000218	High palate
OMIM:610443	KANSL1	284058	HP:0000540	Hypermetropia
OMIM:610443	KANSL1	284058	HP:0000682	Abnormality of dental enamel
OMIM:610443	KANSL1	284058	HP:0000430	Underdeveloped nasal alae
OMIM:610443	KANSL1	284058	HP:0002167	Neurological speech impairment
OMIM:610443	KANSL1	284058	HP:0000396	Overfolded helix
OMIM:610443	KANSL1	284058	HP:0001263	Global developmental delay
OMIM:610443	KANSL1	284058	HP:0001250	Seizures
OMIM:610443	KANSL1	284058	HP:0000431	Wide nasal bridge
OMIM:610443	KANSL1	284058	HP:0000958	Dry skin
OMIM:610443	KANSL1	284058	HP:0002119	Ventriculomegaly
OMIM:610443	KANSL1	284058	HP:0001629	Ventricular septal defect
OMIM:610443	KANSL1	284058	HP:0000687	Widely spaced teeth
OMIM:610443	KANSL1	284058	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:610443	KANSL1	284058	HP:0000276	Long face
OMIM:610443	KANSL1	284058	HP:0001511	Intrauterine growth retardation
OMIM:610443	KANSL1	284058	HP:0000076	Vesicoureteral reflux
OMIM:610443	KANSL1	284058	HP:0006610	Wide intermamillary distance
OMIM:610443	KANSL1	284058	HP:0000286	Epicanthus
OMIM:610443	KANSL1	284058	HP:0000414	Bulbous nose
OMIM:610443	KANSL1	284058	HP:0000252	Microcephaly
OMIM:610443	KANSL1	284058	HP:0001508	Failure to thrive
OMIM:610443	KANSL1	284058	HP:0000232	Everted lower lip vermilion
OMIM:610443	KANSL1	284058	HP:0001249	Intellectual disability
OMIM:610443	KANSL1	284058	HP:0008872	Feeding difficulties in infancy
OMIM:610443	KANSL1	284058	HP:0000126	Hydronephrosis
OMIM:610443	KANSL1	284058	HP:0000337	Broad forehead
OMIM:610443	KANSL1	284058	HP:0001642	Pulmonic stenosis
OMIM:610443	KANSL1	284058	HP:0001166	Arachnodactyly
OMIM:610443	KANSL1	284058	HP:0010719	Abnormality of hair texture
OMIM:610443	KANSL1	284058	HP:0100543	Cognitive impairment
OMIM:610443	KANSL1	284058	HP:0000189	Narrow palate
OMIM:610443	KANSL1	284058	HP:0000426	Prominent nasal bridge
OMIM:610443	KANSL1	284058	HP:0001382	Joint hypermobility
OMIM:610443	KANSL1	284058	HP:0000400	Macrotia
OMIM:610443	KANSL1	284058	HP:0000175	Cleft palate
OMIM:610443	KANSL1	284058	HP:0002465	Poor speech
OMIM:610443	KANSL1	284058	HP:0000601	Hypotelorism
OMIM:610443	KANSL1	284058	HP:0003828	Variable expressivity
OMIM:610443	KANSL1	284058	HP:0000821	Hypothyroidism
OMIM:610443	KANSL1	284058	HP:0001671	Abnormality of the cardiac septa
OMIM:610443	KANSL1	284058	HP:0005599	Hypopigmentation of hair
OMIM:610443	KANSL1	284058	HP:0000581	Blepharophimosis
OMIM:610443	KANSL1	284058	HP:0000006	Autosomal dominant inheritance
OMIM:610443	KANSL1	284058	HP:0001611	Nasal speech
OMIM:610443	KANSL1	284058	HP:0002948	Vertebral fusion
OMIM:610443	KANSL1	284058	HP:0004322	Short stature
OMIM:610443	KANSL1	284058	HP:0005656	Positional foot deformity
OMIM:610443	KANSL1	284058	HP:0000194	Open mouth
OMIM:610443	KANSL1	284058	HP:0000691	Microdontia
OMIM:610443	KANSL1	284058	HP:0001290	Generalized hypotonia
OMIM:610443	KANSL1	284058	HP:0003745	Sporadic
OMIM:610443	KANSL1	284058	HP:0001385	Hip dysplasia
OMIM:610443	KANSL1	284058	HP:0000280	Coarse facial features
OMIM:610443	KANSL1	284058	HP:0000964	Eczema
OMIM:610443	KANSL1	284058	HP:0001631	Atria septal defect
OMIM:610443	KANSL1	284058	HP:0002808	Kyphosis
OMIM:610443	KANSL1	284058	HP:0100627	Displacement of the external urethral meatus
OMIM:610443	KANSL1	284058	HP:0000960	Sacral dimple
OMIM:610443	KANSL1	284058	HP:0002827	Hip dislocation
OMIM:610443	KANSL1	284058	HP:0008064	Ichthyosis
OMIM:610443	KANSL1	284058	HP:0000348	High forehead
OMIM:610443	KANSL1	284058	HP:0009804	Reduced number of teeth
OMIM:610443	KANSL1	284058	HP:0000750	Delayed speech and language development
OMIM:610443	KANSL1	284058	HP:0000508	Ptosis
OMIM:610443	KANSL1	284058	HP:0001647	Bicuspid aortic valve
ORPHANET:1412	NOG	9241	HP:0008368	Tarsal synostosis
ORPHANET:1412	NOG	9241	HP:0004322	Short stature
ORPHANET:1412	NOG	9241	HP:0003028	Abnormality of the ankles
OMIM:101200	FGFR2	2263	HP:0010554	Cutaneous finger syndactyly
OMIM:101200	FGFR2	2263	HP:0002007	Frontal bossing
OMIM:101200	FGFR2	2263	HP:0000407	Sensorineural hearing impairment
OMIM:101200	FGFR2	2263	HP:0000126	Hydronephrosis
OMIM:101200	FGFR2	2263	HP:0000272	Malar flattening
OMIM:101200	FGFR2	2263	HP:0100543	Cognitive impairment
OMIM:101200	FGFR2	2263	HP:0000175	Cleft palate
OMIM:101200	FGFR2	2263	HP:0001249	Intellectual disability
OMIM:101200	FGFR2	2263	HP:0011800	Hypoplasia of midface
OMIM:101200	FGFR2	2263	HP:0000348	High forehead
OMIM:101200	FGFR2	2263	HP:0002119	Ventriculomegaly
OMIM:101200	FGFR2	2263	HP:0000505	Visual impairment
OMIM:101200	FGFR2	2263	HP:0000239	Large fontanelles
OMIM:101200	FGFR2	2263	HP:0005280	Depressed nasal bridge
OMIM:101200	FGFR2	2263	HP:0009826	Limb undergrowth
OMIM:101200	FGFR2	2263	HP:0000822	Hypertension
OMIM:101200	FGFR2	2263	HP:0000148	Vaginal atresia
OMIM:101200	FGFR2	2263	HP:0001274	Agenesis of corpus callosum
OMIM:101200	FGFR2	2263	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:101200	FGFR2	2263	HP:0000486	Strabismus
OMIM:101200	FGFR2	2263	HP:0003422	Vertebral segmentation defect
OMIM:101200	FGFR2	2263	HP:0000270	Delayed cranial suture closure
OMIM:101200	FGFR2	2263	HP:0000303	Mandibular prognathia
OMIM:101200	FGFR2	2263	HP:0000648	Optic atrophy
OMIM:101200	FGFR2	2263	HP:0000444	Convex nasal ridge
OMIM:101200	FGFR2	2263	HP:0000324	Facial asymmetry
OMIM:101200	FGFR2	2263	HP:0000452	Choanal stenosis
OMIM:101200	FGFR2	2263	HP:0002032	Esophageal atresia
OMIM:101200	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:101200	FGFR2	2263	HP:0000028	Cryptorchidism
OMIM:101200	FGFR2	2263	HP:0100615	Ovarian neoplasm
OMIM:101200	FGFR2	2263	HP:0000238	Hydrocephalus
OMIM:101200	FGFR2	2263	HP:0001629	Ventricular septal defect
OMIM:101200	FGFR2	2263	HP:0001507	Growth abnormality
OMIM:101200	FGFR2	2263	HP:0012368	Flat face
OMIM:101200	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:101200	FGFR2	2263	HP:0000405	Conductive hearing impairment
OMIM:101200	FGFR2	2263	HP:0000689	Dental malocclusion
OMIM:101200	FGFR2	2263	HP:0000193	Bifid uvula
OMIM:101200	FGFR2	2263	HP:0002623	Overriding aorta
OMIM:101200	FGFR2	2263	HP:0001162	Postaxial hand polydactyly
OMIM:101200	FGFR2	2263	HP:0002021	Pyloric stenosis
OMIM:101200	FGFR2	2263	HP:0000684	Delayed eruption of teeth
OMIM:101200	FGFR2	2263	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:101200	FGFR2	2263	HP:0000189	Narrow palate
OMIM:101200	FGFR2	2263	HP:0001061	Acne
OMIM:101200	FGFR2	2263	HP:0003041	Humeroradial synostosis
OMIM:101200	FGFR2	2263	HP:0001177	Preaxial hand polydactyly
OMIM:101200	FGFR2	2263	HP:0000453	Choanal atresia
OMIM:101200	FGFR2	2263	HP:0002093	Respiratory insufficiency
OMIM:101200	FGFR2	2263	HP:0000494	Downslanted palpebral fissures
OMIM:101200	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:101200	FGFR2	2263	HP:0007291	Posterior fossa cyst
OMIM:101200	FGFR2	2263	HP:0007099	Arnold-Chiari type I malformation
OMIM:101200	FGFR2	2263	HP:0000520	Proptosis
OMIM:101200	FGFR2	2263	HP:0000337	Broad forehead
OMIM:101200	FGFR2	2263	HP:0002308	Arnold-Chiari malformation
OMIM:101200	FGFR2	2263	HP:0005048	Synostosis of carpal bones
OMIM:101200	FGFR2	2263	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:101200	FGFR2	2263	HP:0001770	Toe syndactyly
OMIM:101200	FGFR2	2263	HP:0000365	Hearing impairment
OMIM:613402	KCNB1	3745	HP:0010864	Intellectual disability, severe
OMIM:613402	KCNB1	3745	HP:0009879	Cortical gyral simplification
OMIM:613402	KCNB1	3745	HP:0001251	Ataxia
OMIM:613402	KCNB1	3745	HP:0000007	Autosomal recessive inheritance
OMIM:613402	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:613402	KCNB1	3745	HP:0001252	Muscular hypotonia
OMIM:613402	KCNB1	3745	HP:0000253	Progressive microcephaly
OMIM:613402	KCNB1	3745	HP:0001270	Motor delay
OMIM:613402	KCNB1	3745	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	KCNB1	3745	HP:0001265	Hyporeflexia
OMIM:613402	KCNB1	3745	HP:0000752	Hyperactivity
OMIM:613402	KCNB1	3745	HP:0002119	Ventriculomegaly
OMIM:613402	KCNB1	3745	HP:0003202	Skeletal muscle atrophy
OMIM:613402	PIGQ	9091	HP:0010864	Intellectual disability, severe
OMIM:613402	PIGQ	9091	HP:0009879	Cortical gyral simplification
OMIM:613402	PIGQ	9091	HP:0001251	Ataxia
OMIM:613402	PIGQ	9091	HP:0000007	Autosomal recessive inheritance
OMIM:613402	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:613402	PIGQ	9091	HP:0001252	Muscular hypotonia
OMIM:613402	PIGQ	9091	HP:0000253	Progressive microcephaly
OMIM:613402	PIGQ	9091	HP:0001270	Motor delay
OMIM:613402	PIGQ	9091	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	PIGQ	9091	HP:0001265	Hyporeflexia
OMIM:613402	PIGQ	9091	HP:0000752	Hyperactivity
OMIM:613402	PIGQ	9091	HP:0002119	Ventriculomegaly
OMIM:613402	PIGQ	9091	HP:0003202	Skeletal muscle atrophy
OMIM:613402	SLC25A22	79751	HP:0010864	Intellectual disability, severe
OMIM:613402	SLC25A22	79751	HP:0009879	Cortical gyral simplification
OMIM:613402	SLC25A22	79751	HP:0001251	Ataxia
OMIM:613402	SLC25A22	79751	HP:0000007	Autosomal recessive inheritance
OMIM:613402	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:613402	SLC25A22	79751	HP:0001252	Muscular hypotonia
OMIM:613402	SLC25A22	79751	HP:0000253	Progressive microcephaly
OMIM:613402	SLC25A22	79751	HP:0001270	Motor delay
OMIM:613402	SLC25A22	79751	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	SLC25A22	79751	HP:0001265	Hyporeflexia
OMIM:613402	SLC25A22	79751	HP:0000752	Hyperactivity
OMIM:613402	SLC25A22	79751	HP:0002119	Ventriculomegaly
OMIM:613402	SLC25A22	79751	HP:0003202	Skeletal muscle atrophy
OMIM:613402	CDKL5	6792	HP:0010864	Intellectual disability, severe
OMIM:613402	CDKL5	6792	HP:0009879	Cortical gyral simplification
OMIM:613402	CDKL5	6792	HP:0001251	Ataxia
OMIM:613402	CDKL5	6792	HP:0000007	Autosomal recessive inheritance
OMIM:613402	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:613402	CDKL5	6792	HP:0001252	Muscular hypotonia
OMIM:613402	CDKL5	6792	HP:0000253	Progressive microcephaly
OMIM:613402	CDKL5	6792	HP:0001270	Motor delay
OMIM:613402	CDKL5	6792	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	CDKL5	6792	HP:0001265	Hyporeflexia
OMIM:613402	CDKL5	6792	HP:0000752	Hyperactivity
OMIM:613402	CDKL5	6792	HP:0002119	Ventriculomegaly
OMIM:613402	CDKL5	6792	HP:0003202	Skeletal muscle atrophy
OMIM:613402	KCNQ2	3785	HP:0010864	Intellectual disability, severe
OMIM:613402	KCNQ2	3785	HP:0009879	Cortical gyral simplification
OMIM:613402	KCNQ2	3785	HP:0001251	Ataxia
OMIM:613402	KCNQ2	3785	HP:0000007	Autosomal recessive inheritance
OMIM:613402	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:613402	KCNQ2	3785	HP:0001252	Muscular hypotonia
OMIM:613402	KCNQ2	3785	HP:0000253	Progressive microcephaly
OMIM:613402	KCNQ2	3785	HP:0001270	Motor delay
OMIM:613402	KCNQ2	3785	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	KCNQ2	3785	HP:0001265	Hyporeflexia
OMIM:613402	KCNQ2	3785	HP:0000752	Hyperactivity
OMIM:613402	KCNQ2	3785	HP:0002119	Ventriculomegaly
OMIM:613402	KCNQ2	3785	HP:0003202	Skeletal muscle atrophy
OMIM:613402	SLC13A5	284111	HP:0010864	Intellectual disability, severe
OMIM:613402	SLC13A5	284111	HP:0009879	Cortical gyral simplification
OMIM:613402	SLC13A5	284111	HP:0001251	Ataxia
OMIM:613402	SLC13A5	284111	HP:0000007	Autosomal recessive inheritance
OMIM:613402	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:613402	SLC13A5	284111	HP:0001252	Muscular hypotonia
OMIM:613402	SLC13A5	284111	HP:0000253	Progressive microcephaly
OMIM:613402	SLC13A5	284111	HP:0001270	Motor delay
OMIM:613402	SLC13A5	284111	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	SLC13A5	284111	HP:0001265	Hyporeflexia
OMIM:613402	SLC13A5	284111	HP:0000752	Hyperactivity
OMIM:613402	SLC13A5	284111	HP:0002119	Ventriculomegaly
OMIM:613402	SLC13A5	284111	HP:0003202	Skeletal muscle atrophy
OMIM:613402	SIK1	150094	HP:0010864	Intellectual disability, severe
OMIM:613402	SIK1	150094	HP:0009879	Cortical gyral simplification
OMIM:613402	SIK1	150094	HP:0001251	Ataxia
OMIM:613402	SIK1	150094	HP:0000007	Autosomal recessive inheritance
OMIM:613402	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:613402	SIK1	150094	HP:0001252	Muscular hypotonia
OMIM:613402	SIK1	150094	HP:0000253	Progressive microcephaly
OMIM:613402	SIK1	150094	HP:0001270	Motor delay
OMIM:613402	SIK1	150094	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	SIK1	150094	HP:0001265	Hyporeflexia
OMIM:613402	SIK1	150094	HP:0000752	Hyperactivity
OMIM:613402	SIK1	150094	HP:0002119	Ventriculomegaly
OMIM:613402	SIK1	150094	HP:0003202	Skeletal muscle atrophy
OMIM:613402	HCN1	348980	HP:0010864	Intellectual disability, severe
OMIM:613402	HCN1	348980	HP:0009879	Cortical gyral simplification
OMIM:613402	HCN1	348980	HP:0001251	Ataxia
OMIM:613402	HCN1	348980	HP:0000007	Autosomal recessive inheritance
OMIM:613402	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:613402	HCN1	348980	HP:0001252	Muscular hypotonia
OMIM:613402	HCN1	348980	HP:0000253	Progressive microcephaly
OMIM:613402	HCN1	348980	HP:0001270	Motor delay
OMIM:613402	HCN1	348980	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	HCN1	348980	HP:0001265	Hyporeflexia
OMIM:613402	HCN1	348980	HP:0000752	Hyperactivity
OMIM:613402	HCN1	348980	HP:0002119	Ventriculomegaly
OMIM:613402	HCN1	348980	HP:0003202	Skeletal muscle atrophy
OMIM:613402	PNKP	11284	HP:0010864	Intellectual disability, severe
OMIM:613402	PNKP	11284	HP:0009879	Cortical gyral simplification
OMIM:613402	PNKP	11284	HP:0001251	Ataxia
OMIM:613402	PNKP	11284	HP:0000007	Autosomal recessive inheritance
OMIM:613402	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:613402	PNKP	11284	HP:0001252	Muscular hypotonia
OMIM:613402	PNKP	11284	HP:0000253	Progressive microcephaly
OMIM:613402	PNKP	11284	HP:0001270	Motor delay
OMIM:613402	PNKP	11284	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	PNKP	11284	HP:0001265	Hyporeflexia
OMIM:613402	PNKP	11284	HP:0000752	Hyperactivity
OMIM:613402	PNKP	11284	HP:0002119	Ventriculomegaly
OMIM:613402	PNKP	11284	HP:0003202	Skeletal muscle atrophy
OMIM:613402	SCN2A	6326	HP:0010864	Intellectual disability, severe
OMIM:613402	SCN2A	6326	HP:0009879	Cortical gyral simplification
OMIM:613402	SCN2A	6326	HP:0001251	Ataxia
OMIM:613402	SCN2A	6326	HP:0000007	Autosomal recessive inheritance
OMIM:613402	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:613402	SCN2A	6326	HP:0001252	Muscular hypotonia
OMIM:613402	SCN2A	6326	HP:0000253	Progressive microcephaly
OMIM:613402	SCN2A	6326	HP:0001270	Motor delay
OMIM:613402	SCN2A	6326	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	SCN2A	6326	HP:0001265	Hyporeflexia
OMIM:613402	SCN2A	6326	HP:0000752	Hyperactivity
OMIM:613402	SCN2A	6326	HP:0002119	Ventriculomegaly
OMIM:613402	SCN2A	6326	HP:0003202	Skeletal muscle atrophy
OMIM:613402	GNAO1	2775	HP:0010864	Intellectual disability, severe
OMIM:613402	GNAO1	2775	HP:0009879	Cortical gyral simplification
OMIM:613402	GNAO1	2775	HP:0001251	Ataxia
OMIM:613402	GNAO1	2775	HP:0000007	Autosomal recessive inheritance
OMIM:613402	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:613402	GNAO1	2775	HP:0001252	Muscular hypotonia
OMIM:613402	GNAO1	2775	HP:0000253	Progressive microcephaly
OMIM:613402	GNAO1	2775	HP:0001270	Motor delay
OMIM:613402	GNAO1	2775	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	GNAO1	2775	HP:0001265	Hyporeflexia
OMIM:613402	GNAO1	2775	HP:0000752	Hyperactivity
OMIM:613402	GNAO1	2775	HP:0002119	Ventriculomegaly
OMIM:613402	GNAO1	2775	HP:0003202	Skeletal muscle atrophy
OMIM:613402	NECAP1	25977	HP:0010864	Intellectual disability, severe
OMIM:613402	NECAP1	25977	HP:0009879	Cortical gyral simplification
OMIM:613402	NECAP1	25977	HP:0001251	Ataxia
OMIM:613402	NECAP1	25977	HP:0000007	Autosomal recessive inheritance
OMIM:613402	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:613402	NECAP1	25977	HP:0001252	Muscular hypotonia
OMIM:613402	NECAP1	25977	HP:0000253	Progressive microcephaly
OMIM:613402	NECAP1	25977	HP:0001270	Motor delay
OMIM:613402	NECAP1	25977	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	NECAP1	25977	HP:0001265	Hyporeflexia
OMIM:613402	NECAP1	25977	HP:0000752	Hyperactivity
OMIM:613402	NECAP1	25977	HP:0002119	Ventriculomegaly
OMIM:613402	NECAP1	25977	HP:0003202	Skeletal muscle atrophy
OMIM:613402	ARX	170302	HP:0010864	Intellectual disability, severe
OMIM:613402	ARX	170302	HP:0009879	Cortical gyral simplification
OMIM:613402	ARX	170302	HP:0001251	Ataxia
OMIM:613402	ARX	170302	HP:0000007	Autosomal recessive inheritance
OMIM:613402	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:613402	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:613402	ARX	170302	HP:0000253	Progressive microcephaly
OMIM:613402	ARX	170302	HP:0001270	Motor delay
OMIM:613402	ARX	170302	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	ARX	170302	HP:0001265	Hyporeflexia
OMIM:613402	ARX	170302	HP:0000752	Hyperactivity
OMIM:613402	ARX	170302	HP:0002119	Ventriculomegaly
OMIM:613402	ARX	170302	HP:0003202	Skeletal muscle atrophy
OMIM:613402	STXBP1	6812	HP:0010864	Intellectual disability, severe
OMIM:613402	STXBP1	6812	HP:0009879	Cortical gyral simplification
OMIM:613402	STXBP1	6812	HP:0001251	Ataxia
OMIM:613402	STXBP1	6812	HP:0000007	Autosomal recessive inheritance
OMIM:613402	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:613402	STXBP1	6812	HP:0001252	Muscular hypotonia
OMIM:613402	STXBP1	6812	HP:0000253	Progressive microcephaly
OMIM:613402	STXBP1	6812	HP:0001270	Motor delay
OMIM:613402	STXBP1	6812	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	STXBP1	6812	HP:0001265	Hyporeflexia
OMIM:613402	STXBP1	6812	HP:0000752	Hyperactivity
OMIM:613402	STXBP1	6812	HP:0002119	Ventriculomegaly
OMIM:613402	STXBP1	6812	HP:0003202	Skeletal muscle atrophy
OMIM:613402	WWOX	51741	HP:0010864	Intellectual disability, severe
OMIM:613402	WWOX	51741	HP:0009879	Cortical gyral simplification
OMIM:613402	WWOX	51741	HP:0001251	Ataxia
OMIM:613402	WWOX	51741	HP:0000007	Autosomal recessive inheritance
OMIM:613402	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:613402	WWOX	51741	HP:0001252	Muscular hypotonia
OMIM:613402	WWOX	51741	HP:0000253	Progressive microcephaly
OMIM:613402	WWOX	51741	HP:0001270	Motor delay
OMIM:613402	WWOX	51741	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	WWOX	51741	HP:0001265	Hyporeflexia
OMIM:613402	WWOX	51741	HP:0000752	Hyperactivity
OMIM:613402	WWOX	51741	HP:0002119	Ventriculomegaly
OMIM:613402	WWOX	51741	HP:0003202	Skeletal muscle atrophy
OMIM:613402	CASK	8573	HP:0010864	Intellectual disability, severe
OMIM:613402	CASK	8573	HP:0009879	Cortical gyral simplification
OMIM:613402	CASK	8573	HP:0001251	Ataxia
OMIM:613402	CASK	8573	HP:0000007	Autosomal recessive inheritance
OMIM:613402	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:613402	CASK	8573	HP:0001252	Muscular hypotonia
OMIM:613402	CASK	8573	HP:0000253	Progressive microcephaly
OMIM:613402	CASK	8573	HP:0001270	Motor delay
OMIM:613402	CASK	8573	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	CASK	8573	HP:0001265	Hyporeflexia
OMIM:613402	CASK	8573	HP:0000752	Hyperactivity
OMIM:613402	CASK	8573	HP:0002119	Ventriculomegaly
OMIM:613402	CASK	8573	HP:0003202	Skeletal muscle atrophy
OMIM:613402	SCN8A	6334	HP:0010864	Intellectual disability, severe
OMIM:613402	SCN8A	6334	HP:0009879	Cortical gyral simplification
OMIM:613402	SCN8A	6334	HP:0001251	Ataxia
OMIM:613402	SCN8A	6334	HP:0000007	Autosomal recessive inheritance
OMIM:613402	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:613402	SCN8A	6334	HP:0001252	Muscular hypotonia
OMIM:613402	SCN8A	6334	HP:0000253	Progressive microcephaly
OMIM:613402	SCN8A	6334	HP:0001270	Motor delay
OMIM:613402	SCN8A	6334	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	SCN8A	6334	HP:0001265	Hyporeflexia
OMIM:613402	SCN8A	6334	HP:0000752	Hyperactivity
OMIM:613402	SCN8A	6334	HP:0002119	Ventriculomegaly
OMIM:613402	SCN8A	6334	HP:0003202	Skeletal muscle atrophy
OMIM:613402	DNM1	1759	HP:0010864	Intellectual disability, severe
OMIM:613402	DNM1	1759	HP:0009879	Cortical gyral simplification
OMIM:613402	DNM1	1759	HP:0001251	Ataxia
OMIM:613402	DNM1	1759	HP:0000007	Autosomal recessive inheritance
OMIM:613402	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:613402	DNM1	1759	HP:0001252	Muscular hypotonia
OMIM:613402	DNM1	1759	HP:0000253	Progressive microcephaly
OMIM:613402	DNM1	1759	HP:0001270	Motor delay
OMIM:613402	DNM1	1759	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613402	DNM1	1759	HP:0001265	Hyporeflexia
OMIM:613402	DNM1	1759	HP:0000752	Hyperactivity
OMIM:613402	DNM1	1759	HP:0002119	Ventriculomegaly
OMIM:613402	DNM1	1759	HP:0003202	Skeletal muscle atrophy
OMIM:615872	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:615872	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
OMIM:615872	DNAAF2	55172	HP:0100750	Atelectasis
OMIM:615872	DNAAF2	55172	HP:0000789	Infertility
OMIM:615872	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:615872	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:615872	CCNO	10309	HP:0100750	Atelectasis
OMIM:615872	CCNO	10309	HP:0000789	Infertility
OMIM:615872	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:615872	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
OMIM:615872	DNAAF5	54919	HP:0100750	Atelectasis
OMIM:615872	DNAAF5	54919	HP:0000789	Infertility
OMIM:615872	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:615872	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:615872	DNAAF3	352909	HP:0100750	Atelectasis
OMIM:615872	DNAAF3	352909	HP:0000789	Infertility
OMIM:615872	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:615872	DNAI1	27019	HP:0002205	Recurrent respiratory infections
OMIM:615872	DNAI1	27019	HP:0100750	Atelectasis
OMIM:615872	DNAI1	27019	HP:0000789	Infertility
OMIM:615872	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:615872	DRC1	92749	HP:0002205	Recurrent respiratory infections
OMIM:615872	DRC1	92749	HP:0100750	Atelectasis
OMIM:615872	DRC1	92749	HP:0000789	Infertility
OMIM:615872	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:615872	SPAG1	6674	HP:0002205	Recurrent respiratory infections
OMIM:615872	SPAG1	6674	HP:0100750	Atelectasis
OMIM:615872	SPAG1	6674	HP:0000789	Infertility
OMIM:615872	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:615872	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:615872	RSPH3	83861	HP:0100750	Atelectasis
OMIM:615872	RSPH3	83861	HP:0000789	Infertility
OMIM:615872	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:615872	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:615872	RPGR	6103	HP:0100750	Atelectasis
OMIM:615872	RPGR	6103	HP:0000789	Infertility
OMIM:615872	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:615872	LRRC6	23639	HP:0002205	Recurrent respiratory infections
OMIM:615872	LRRC6	23639	HP:0100750	Atelectasis
OMIM:615872	LRRC6	23639	HP:0000789	Infertility
OMIM:615872	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:615872	DNAL1	83544	HP:0002205	Recurrent respiratory infections
OMIM:615872	DNAL1	83544	HP:0100750	Atelectasis
OMIM:615872	DNAL1	83544	HP:0000789	Infertility
OMIM:615872	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:615872	ARMC4	55130	HP:0002205	Recurrent respiratory infections
OMIM:615872	ARMC4	55130	HP:0100750	Atelectasis
OMIM:615872	ARMC4	55130	HP:0000789	Infertility
OMIM:615872	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:615872	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:615872	CCDC103	388389	HP:0100750	Atelectasis
OMIM:615872	CCDC103	388389	HP:0000789	Infertility
OMIM:615872	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:615872	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:615872	OFD1	8481	HP:0100750	Atelectasis
OMIM:615872	OFD1	8481	HP:0000789	Infertility
OMIM:615872	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:615872	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
OMIM:615872	DNAAF1	123872	HP:0100750	Atelectasis
OMIM:615872	DNAAF1	123872	HP:0000789	Infertility
OMIM:615872	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:615872	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
OMIM:615872	RSPH4A	345895	HP:0100750	Atelectasis
OMIM:615872	RSPH4A	345895	HP:0000789	Infertility
OMIM:615872	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:615872	RSPH1	89765	HP:0002205	Recurrent respiratory infections
OMIM:615872	RSPH1	89765	HP:0100750	Atelectasis
OMIM:615872	RSPH1	89765	HP:0000789	Infertility
OMIM:615872	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:615872	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
OMIM:615872	ZMYND10	51364	HP:0100750	Atelectasis
OMIM:615872	ZMYND10	51364	HP:0000789	Infertility
OMIM:615872	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:615872	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:615872	DNAH5	1767	HP:0100750	Atelectasis
OMIM:615872	DNAH5	1767	HP:0000789	Infertility
OMIM:615872	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:615872	CCDC65	85478	HP:0002205	Recurrent respiratory infections
OMIM:615872	CCDC65	85478	HP:0100750	Atelectasis
OMIM:615872	CCDC65	85478	HP:0000789	Infertility
OMIM:615872	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:615872	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
OMIM:615872	C21ORF59	56683	HP:0100750	Atelectasis
OMIM:615872	C21ORF59	56683	HP:0000789	Infertility
OMIM:615872	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:615872	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
OMIM:615872	DYX1C1	161582	HP:0100750	Atelectasis
OMIM:615872	DYX1C1	161582	HP:0000789	Infertility
OMIM:615872	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:615872	CCDC151	115948	HP:0002205	Recurrent respiratory infections
OMIM:615872	CCDC151	115948	HP:0100750	Atelectasis
OMIM:615872	CCDC151	115948	HP:0000789	Infertility
OMIM:615872	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:615872	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:615872	RSPH9	221421	HP:0100750	Atelectasis
OMIM:615872	RSPH9	221421	HP:0000789	Infertility
OMIM:615872	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:615872	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:615872	CCDC39	339829	HP:0100750	Atelectasis
OMIM:615872	CCDC39	339829	HP:0000789	Infertility
OMIM:615872	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:615872	HYDIN	54768	HP:0002205	Recurrent respiratory infections
OMIM:615872	HYDIN	54768	HP:0100750	Atelectasis
OMIM:615872	HYDIN	54768	HP:0000789	Infertility
OMIM:615872	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:615872	CCDC114	93233	HP:0002205	Recurrent respiratory infections
OMIM:615872	CCDC114	93233	HP:0100750	Atelectasis
OMIM:615872	CCDC114	93233	HP:0000789	Infertility
OMIM:615872	NME8	51314	HP:0002110	Bronchiectasis
OMIM:615872	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:615872	NME8	51314	HP:0100750	Atelectasis
OMIM:615872	NME8	51314	HP:0000789	Infertility
OMIM:615872	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:615872	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:615872	CCDC40	55036	HP:0100750	Atelectasis
OMIM:615872	CCDC40	55036	HP:0000789	Infertility
OMIM:615872	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:615872	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:615872	DNAH11	8701	HP:0100750	Atelectasis
OMIM:615872	DNAH11	8701	HP:0000789	Infertility
OMIM:615872	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:615872	DNAI2	64446	HP:0002205	Recurrent respiratory infections
OMIM:615872	DNAI2	64446	HP:0100750	Atelectasis
OMIM:615872	DNAI2	64446	HP:0000789	Infertility
OMIM:615872	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:615872	GAS8	2622	HP:0002205	Recurrent respiratory infections
OMIM:615872	GAS8	2622	HP:0100750	Atelectasis
OMIM:615872	GAS8	2622	HP:0000789	Infertility
OMIM:613270	COL8A2	1296	HP:0001131	Corneal dystrophy
OMIM:613270	SLC4A11	83959	HP:0001131	Corneal dystrophy
OMIM:613270	ZEB1	6935	HP:0001131	Corneal dystrophy
OMIM:613270	AGBL1	123624	HP:0001131	Corneal dystrophy
OMIM:613270	TCF4	6925	HP:0001131	Corneal dystrophy
OMIM:236250	MTHFR	4524	HP:0001250	Seizures
OMIM:236250	MTHFR	4524	HP:0001324	Muscle weakness
OMIM:236250	MTHFR	4524	HP:0001297	Stroke
OMIM:236250	MTHFR	4524	HP:0000252	Microcephaly
OMIM:236250	MTHFR	4524	HP:0003401	Paresthesia
OMIM:236250	MTHFR	4524	HP:0000708	Behavioral abnormality
OMIM:236250	MTHFR	4524	HP:0002311	Incoordination
OMIM:236250	MTHFR	4524	HP:0001263	Global developmental delay
OMIM:236250	MTHFR	4524	HP:0000007	Autosomal recessive inheritance
OMIM:236250	MTHFR	4524	HP:0001288	Gait disturbance
OMIM:270200	ALDH3A2	224	HP:0007703	Abnormality of retinal pigmentation
OMIM:270200	ALDH3A2	224	HP:0000488	Retinopathy
OMIM:270200	ALDH3A2	224	HP:0001025	Urticaria
OMIM:270200	ALDH3A2	224	HP:0001376	Limitation of joint mobility
OMIM:270200	ALDH3A2	224	HP:0000545	Myopia
OMIM:270200	ALDH3A2	224	HP:0000007	Autosomal recessive inheritance
OMIM:270200	ALDH3A2	224	HP:0006297	Hypoplasia of dental enamel
OMIM:270200	ALDH3A2	224	HP:0007440	Generalized hyperpigmentation
OMIM:270200	ALDH3A2	224	HP:0000608	Macular degeneration
OMIM:270200	ALDH3A2	224	HP:0100543	Cognitive impairment
OMIM:270200	ALDH3A2	224	HP:0000613	Photophobia
OMIM:270200	ALDH3A2	224	HP:0000958	Dry skin
OMIM:270200	ALDH3A2	224	HP:0002652	Skeletal dysplasia
OMIM:270200	ALDH3A2	224	HP:0004374	Hemiplegia/hemiparesis
OMIM:270200	ALDH3A2	224	HP:0100533	Inflammatory abnormality of the eye
OMIM:270200	ALDH3A2	224	HP:0001250	Seizures
OMIM:270200	ALDH3A2	224	HP:0007305	CNS demyelination
OMIM:270200	ALDH3A2	224	HP:0000252	Microcephaly
OMIM:270200	ALDH3A2	224	HP:0002650	Scoliosis
OMIM:270200	ALDH3A2	224	HP:0004322	Short stature
OMIM:270200	ALDH3A2	224	HP:0001257	Spasticity
OMIM:270200	ALDH3A2	224	HP:0002167	Neurological speech impairment
OMIM:270200	ALDH3A2	224	HP:0008064	Ichthyosis
OMIM:270200	ALDH3A2	224	HP:0001252	Muscular hypotonia
OMIM:270200	ALDH3A2	224	HP:0000962	Hyperkeratosis
OMIM:270200	ALDH3A2	224	HP:0007256	Abnormal pyramidal signs
OMIM:270200	ALDH3A2	224	HP:0001249	Intellectual disability
OMIM:601553	CDH3	1001	HP:0000164	Abnormality of the teeth
OMIM:601553	CDH3	1001	HP:0002213	Fine hair
OMIM:601553	CDH3	1001	HP:0007663	Reduced visual acuity
OMIM:601553	CDH3	1001	HP:0000618	Blindness
OMIM:601553	CDH3	1001	HP:0000639	Nystagmus
OMIM:601553	CDH3	1001	HP:0003777	Pili torti
OMIM:601553	CDH3	1001	HP:0100326	Immunologic hypersensitivity
OMIM:601553	CDH3	1001	HP:0000007	Autosomal recessive inheritance
OMIM:601553	CDH3	1001	HP:0000962	Hyperkeratosis
OMIM:601553	CDH3	1001	HP:0002652	Skeletal dysplasia
OMIM:601553	CDH3	1001	HP:0000548	Cone/cone-rod dystrophy
OMIM:601553	CDH3	1001	HP:0001480	Freckling
OMIM:601553	CDH3	1001	HP:0011362	Abnormal hair quantity
OMIM:601553	CDH3	1001	HP:0004322	Short stature
OMIM:601553	CDH3	1001	HP:0000505	Visual impairment
OMIM:601553	CDH3	1001	HP:0000995	Melanocytic nevus
OMIM:601553	CDH3	1001	HP:0002813	Abnormality of limb bone morphology
OMIM:601553	CDH3	1001	HP:0001103	Abnormality of the macula
OMIM:601553	CDH3	1001	HP:0001597	Abnormality of the nail
OMIM:604229	TGFB2	7042	HP:0000007	Autosomal recessive inheritance
OMIM:604229	TGFB2	7042	HP:0000639	Nystagmus
OMIM:604229	TGFB2	7042	HP:0001087	Congenital glaucoma
OMIM:604229	TGFB2	7042	HP:0000486	Strabismus
OMIM:604229	TGFB2	7042	HP:0000689	Dental malocclusion
OMIM:604229	TGFB2	7042	HP:0007957	Corneal opacity
OMIM:604229	TGFB2	7042	HP:0000659	Peters anomaly
OMIM:604229	TGFB2	7042	HP:0008063	Aplasia/Hypoplasia of the lens
OMIM:604229	TGFB2	7042	HP:0007759	Opacification of the corneal stroma
OMIM:604229	TGFB2	7042	HP:0000482	Microcornea
OMIM:604229	TGFB2	7042	HP:0000518	Cataract
OMIM:604229	TGFB2	7042	HP:0000347	Micrognathia
OMIM:604229	TGFB2	7042	HP:0001131	Corneal dystrophy
OMIM:604229	HDAC9	9734	HP:0000007	Autosomal recessive inheritance
OMIM:604229	HDAC9	9734	HP:0000639	Nystagmus
OMIM:604229	HDAC9	9734	HP:0001087	Congenital glaucoma
OMIM:604229	HDAC9	9734	HP:0000486	Strabismus
OMIM:604229	HDAC9	9734	HP:0000689	Dental malocclusion
OMIM:604229	HDAC9	9734	HP:0007957	Corneal opacity
OMIM:604229	HDAC9	9734	HP:0000659	Peters anomaly
OMIM:604229	HDAC9	9734	HP:0008063	Aplasia/Hypoplasia of the lens
OMIM:604229	HDAC9	9734	HP:0007759	Opacification of the corneal stroma
OMIM:604229	HDAC9	9734	HP:0000482	Microcornea
OMIM:604229	HDAC9	9734	HP:0000518	Cataract
OMIM:604229	HDAC9	9734	HP:0000347	Micrognathia
OMIM:604229	HDAC9	9734	HP:0001131	Corneal dystrophy
OMIM:604229	PAX6	5080	HP:0000007	Autosomal recessive inheritance
OMIM:604229	PAX6	5080	HP:0000639	Nystagmus
OMIM:604229	PAX6	5080	HP:0001087	Congenital glaucoma
OMIM:604229	PAX6	5080	HP:0000486	Strabismus
OMIM:604229	PAX6	5080	HP:0000689	Dental malocclusion
OMIM:604229	PAX6	5080	HP:0007957	Corneal opacity
OMIM:604229	PAX6	5080	HP:0000659	Peters anomaly
OMIM:604229	PAX6	5080	HP:0008063	Aplasia/Hypoplasia of the lens
OMIM:604229	PAX6	5080	HP:0007759	Opacification of the corneal stroma
OMIM:604229	PAX6	5080	HP:0000482	Microcornea
OMIM:604229	PAX6	5080	HP:0000518	Cataract
OMIM:604229	PAX6	5080	HP:0000347	Micrognathia
OMIM:604229	PAX6	5080	HP:0001131	Corneal dystrophy
OMIM:604229	FOXC1	2296	HP:0000007	Autosomal recessive inheritance
OMIM:604229	FOXC1	2296	HP:0000639	Nystagmus
OMIM:604229	FOXC1	2296	HP:0001087	Congenital glaucoma
OMIM:604229	FOXC1	2296	HP:0000486	Strabismus
OMIM:604229	FOXC1	2296	HP:0000689	Dental malocclusion
OMIM:604229	FOXC1	2296	HP:0007957	Corneal opacity
OMIM:604229	FOXC1	2296	HP:0000659	Peters anomaly
OMIM:604229	FOXC1	2296	HP:0008063	Aplasia/Hypoplasia of the lens
OMIM:604229	FOXC1	2296	HP:0007759	Opacification of the corneal stroma
OMIM:604229	FOXC1	2296	HP:0000482	Microcornea
OMIM:604229	FOXC1	2296	HP:0000518	Cataract
OMIM:604229	FOXC1	2296	HP:0000347	Micrognathia
OMIM:604229	FOXC1	2296	HP:0001131	Corneal dystrophy
OMIM:604229	CYP1B1	1545	HP:0000007	Autosomal recessive inheritance
OMIM:604229	CYP1B1	1545	HP:0000639	Nystagmus
OMIM:604229	CYP1B1	1545	HP:0001087	Congenital glaucoma
OMIM:604229	CYP1B1	1545	HP:0000486	Strabismus
OMIM:604229	CYP1B1	1545	HP:0000689	Dental malocclusion
OMIM:604229	CYP1B1	1545	HP:0007957	Corneal opacity
OMIM:604229	CYP1B1	1545	HP:0000659	Peters anomaly
OMIM:604229	CYP1B1	1545	HP:0008063	Aplasia/Hypoplasia of the lens
OMIM:604229	CYP1B1	1545	HP:0007759	Opacification of the corneal stroma
OMIM:604229	CYP1B1	1545	HP:0000482	Microcornea
OMIM:604229	CYP1B1	1545	HP:0000518	Cataract
OMIM:604229	CYP1B1	1545	HP:0000347	Micrognathia
OMIM:604229	CYP1B1	1545	HP:0001131	Corneal dystrophy
OMIM:604229	PITX2	5308	HP:0000007	Autosomal recessive inheritance
OMIM:604229	PITX2	5308	HP:0000639	Nystagmus
OMIM:604229	PITX2	5308	HP:0001087	Congenital glaucoma
OMIM:604229	PITX2	5308	HP:0000486	Strabismus
OMIM:604229	PITX2	5308	HP:0000689	Dental malocclusion
OMIM:604229	PITX2	5308	HP:0007957	Corneal opacity
OMIM:604229	PITX2	5308	HP:0000659	Peters anomaly
OMIM:604229	PITX2	5308	HP:0008063	Aplasia/Hypoplasia of the lens
OMIM:604229	PITX2	5308	HP:0007759	Opacification of the corneal stroma
OMIM:604229	PITX2	5308	HP:0000482	Microcornea
OMIM:604229	PITX2	5308	HP:0000518	Cataract
OMIM:604229	PITX2	5308	HP:0000347	Micrognathia
OMIM:604229	PITX2	5308	HP:0001131	Corneal dystrophy
OMIM:615705	RUBCN	9711	HP:0000007	Autosomal recessive inheritance
OMIM:615705	RUBCN	9711	HP:0001265	Hyporeflexia
OMIM:615705	RUBCN	9711	HP:0001272	Cerebellar atrophy
OMIM:615705	RUBCN	9711	HP:0001251	Ataxia
OMIM:615705	RUBCN	9711	HP:0003676	Progressive
OMIM:615705	RUBCN	9711	HP:0000639	Nystagmus
OMIM:615705	RUBCN	9711	HP:0001250	Seizures
OMIM:615705	RUBCN	9711	HP:0001260	Dysarthria
OMIM:615705	RUBCN	9711	HP:0001347	Hyperreflexia
OMIM:615705	RUBCN	9711	HP:0001249	Intellectual disability
OMIM:615705	RUBCN	9711	HP:0002317	Unsteady gait
OMIM:615705	RUBCN	9711	HP:0001270	Motor delay
OMIM:168605	DCTN1	1639	HP:0003678	Rapidly progressive
OMIM:168605	DCTN1	1639	HP:0000298	Mask-like facies
OMIM:168605	DCTN1	1639	HP:0000716	Depression
OMIM:168605	DCTN1	1639	HP:0002360	Sleep disturbance
OMIM:168605	DCTN1	1639	HP:0001300	Parkinsonism
OMIM:168605	DCTN1	1639	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:168605	DCTN1	1639	HP:0002067	Bradykinesia
OMIM:168605	DCTN1	1639	HP:0007110	Central hypoventilation
OMIM:168605	DCTN1	1639	HP:0001824	Weight loss
OMIM:168605	DCTN1	1639	HP:0000741	Apathy
OMIM:168605	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:168605	DCTN1	1639	HP:0000738	Hallucinations
OMIM:168605	DCTN1	1639	HP:0002791	Hypoventilation
OMIM:168605	DCTN1	1639	HP:0002093	Respiratory insufficiency
OMIM:168605	DCTN1	1639	HP:0100785	Insomnia
OMIM:168605	DCTN1	1639	HP:0002063	Rigidity
OMIM:168605	DCTN1	1639	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:168605	DCTN1	1639	HP:0002376	Developmental regression
OMIM:168605	DCTN1	1639	HP:0001337	Tremor
OMIM:168605	DCTN1	1639	HP:0001260	Dysarthria
OMIM:160500	MYH7	4625	HP:0001288	Gait disturbance
OMIM:160500	MYH7	4625	HP:0011463	Childhood onset
OMIM:160500	MYH7	4625	HP:0002650	Scoliosis
OMIM:160500	MYH7	4625	HP:0000467	Neck muscle weakness
OMIM:160500	MYH7	4625	HP:0010628	Facial palsy
OMIM:160500	MYH7	4625	HP:0003326	Myalgia
OMIM:160500	MYH7	4625	HP:0003445	EMG: neuropathic changes
OMIM:160500	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:160500	MYH7	4625	HP:0003593	Infantile onset
OMIM:160500	MYH7	4625	HP:0003812	Phenotypic variability
OMIM:160500	MYH7	4625	HP:0003701	Proximal muscle weakness
OMIM:160500	MYH7	4625	HP:0002460	Distal muscle weakness
OMIM:160500	MYH7	4625	HP:0003236	Elevated serum creatine phosphokinase
OMIM:160500	MYH7	4625	HP:0000218	High palate
OMIM:160500	MYH7	4625	HP:0001761	Pes cavus
OMIM:160500	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:160500	MYH7	4625	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:160500	MYH7	4625	HP:0003677	Slow progression
OMIM:602032	KRT85	3891	HP:0008404	Nail dystrophy
OMIM:602032	KRT85	3891	HP:0003777	Pili torti
OMIM:602032	KRT85	3891	HP:0000007	Autosomal recessive inheritance
OMIM:602032	KRT85	3891	HP:0001596	Alopecia
OMIM:602032	KRT85	3891	HP:0001806	Onycholysis
OMIM:602032	KRT85	3891	HP:0002299	Brittle hair
OMIM:602032	KRT85	3891	HP:0000006	Autosomal dominant inheritance
OMIM:602032	HOXC13	3229	HP:0008404	Nail dystrophy
OMIM:602032	HOXC13	3229	HP:0003777	Pili torti
OMIM:602032	HOXC13	3229	HP:0000007	Autosomal recessive inheritance
OMIM:602032	HOXC13	3229	HP:0001596	Alopecia
OMIM:602032	HOXC13	3229	HP:0001806	Onycholysis
OMIM:602032	HOXC13	3229	HP:0002299	Brittle hair
OMIM:602032	HOXC13	3229	HP:0000006	Autosomal dominant inheritance
OMIM:602032	KRT74	121391	HP:0008404	Nail dystrophy
OMIM:602032	KRT74	121391	HP:0003777	Pili torti
OMIM:602032	KRT74	121391	HP:0000007	Autosomal recessive inheritance
OMIM:602032	KRT74	121391	HP:0001596	Alopecia
OMIM:602032	KRT74	121391	HP:0001806	Onycholysis
OMIM:602032	KRT74	121391	HP:0002299	Brittle hair
OMIM:602032	KRT74	121391	HP:0000006	Autosomal dominant inheritance
OMIM:609634	SCN1A	6323	HP:0000613	Photophobia
OMIM:609634	SCN1A	6323	HP:0001250	Seizures
OMIM:609634	SCN1A	6323	HP:0000618	Blindness
OMIM:609634	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:609634	CACNA1A	773	HP:0000613	Photophobia
OMIM:609634	CACNA1A	773	HP:0001250	Seizures
OMIM:609634	CACNA1A	773	HP:0000618	Blindness
OMIM:609634	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:609634	ATP1A2	477	HP:0000613	Photophobia
OMIM:609634	ATP1A2	477	HP:0001250	Seizures
OMIM:609634	ATP1A2	477	HP:0000618	Blindness
OMIM:609634	ATP1A2	477	HP:0000006	Autosomal dominant inheritance
OMIM:609634	PRRT2	112476	HP:0000613	Photophobia
OMIM:609634	PRRT2	112476	HP:0001250	Seizures
OMIM:609634	PRRT2	112476	HP:0000618	Blindness
OMIM:609634	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:615273	NGLY1	55768	HP:0002910	Elevated hepatic transaminases
OMIM:615273	NGLY1	55768	HP:0001263	Global developmental delay
OMIM:615273	NGLY1	55768	HP:0009830	Peripheral neuropathy
OMIM:615273	NGLY1	55768	HP:0000007	Autosomal recessive inheritance
OMIM:615273	NGLY1	55768	HP:0012448	Delayed myelination
OMIM:615273	NGLY1	55768	HP:0200055	Small hand
OMIM:615273	NGLY1	55768	HP:0001773	Short foot
OMIM:615273	NGLY1	55768	HP:0004305	Involuntary movements
OMIM:615273	NGLY1	55768	HP:0001252	Muscular hypotonia
ORPHANET:314911	ASPA	443	HP:0000649	Abnormality of visual evoked potentials
ORPHANET:314911	ASPA	443	HP:0000256	Macrocephaly
ORPHANET:314911	ASPA	443	HP:0000365	Hearing impairment
ORPHANET:314911	ASPA	443	HP:0000505	Visual impairment
ORPHANET:314911	ASPA	443	HP:0004372	Reduced consciousness/confusion
ORPHANET:314911	ASPA	443	HP:0008872	Feeding difficulties in infancy
ORPHANET:314911	ASPA	443	HP:0002360	Sleep disturbance
ORPHANET:314911	ASPA	443	HP:0100543	Cognitive impairment
ORPHANET:314911	ASPA	443	HP:0000648	Optic atrophy
ORPHANET:314911	ASPA	443	HP:0001276	Hypertonia
ORPHANET:314911	ASPA	443	HP:0002353	EEG abnormality
ORPHANET:314911	ASPA	443	HP:0001252	Muscular hypotonia
ORPHANET:314911	ASPA	443	HP:0001250	Seizures
OMIM:252150	MOCS1	4337	HP:0002510	Spastic tetraplegia
OMIM:252150	MOCS1	4337	HP:0011096	Peripheral demyelination
OMIM:252150	MOCS1	4337	HP:0003196	Short nose
OMIM:252150	MOCS1	4337	HP:0002171	Gliosis
OMIM:252150	MOCS1	4337	HP:0000293	Full cheeks
OMIM:252150	MOCS1	4337	HP:0001285	Spastic tetraparesis
OMIM:252150	MOCS1	4337	HP:0002119	Ventriculomegaly
OMIM:252150	MOCS1	4337	HP:0000252	Microcephaly
OMIM:252150	MOCS1	4337	HP:0002079	Hypoplasia of the corpus callosum
OMIM:252150	MOCS1	4337	HP:0002059	Cerebral atrophy
OMIM:252150	MOCS1	4337	HP:0002179	Opisthotonus
OMIM:252150	MOCS1	4337	HP:0001250	Seizures
OMIM:252150	MOCS1	4337	HP:0008872	Feeding difficulties in infancy
OMIM:252150	MOCS1	4337	HP:0000639	Nystagmus
OMIM:252150	MOCS1	4337	HP:0001083	Ectopia lentis
OMIM:252150	MOCS1	4337	HP:0003739	Myoclonic spasms
OMIM:252150	MOCS1	4337	HP:0000007	Autosomal recessive inheritance
OMIM:252150	MOCS1	4337	HP:0000316	Hypertelorism
OMIM:252150	MOCS1	4337	HP:0001510	Growth delay
OMIM:252150	MOCS1	4337	HP:0002007	Frontal bossing
OMIM:252150	MOCS1	4337	HP:0000256	Macrocephaly
OMIM:252150	MOCS1	4337	HP:0001249	Intellectual disability
OMIM:252150	MOCS1	4337	HP:0003676	Progressive
OMIM:252150	MOCS1	4337	HP:0012471	Thick vermilion border
OMIM:252150	MOCS1	4337	HP:0000343	Long philtrum
OMIM:252150	MOCS1	4337	HP:0000276	Long face
OMIM:615429	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:615429	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:615429	BSND	7809	HP:0000365	Hearing impairment
OMIM:615429	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:615429	ESPN	83715	HP:0000365	Hearing impairment
OMIM:615429	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:615429	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:615429	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:615429	OTOA	146183	HP:0000365	Hearing impairment
OMIM:615429	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:615429	GJA1	2697	HP:0000365	Hearing impairment
OMIM:615429	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:615429	MET	4233	HP:0000365	Hearing impairment
OMIM:615429	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:615429	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:615429	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:615429	HGF	3082	HP:0000365	Hearing impairment
OMIM:615429	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:615429	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:615429	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:615429	EPS8	2059	HP:0000365	Hearing impairment
OMIM:615429	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:615429	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:615429	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:615429	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:615429	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:615429	GJB2	2706	HP:0000365	Hearing impairment
OMIM:615429	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:615429	GJB3	2707	HP:0000365	Hearing impairment
OMIM:615429	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:615429	CABP2	51475	HP:0000365	Hearing impairment
OMIM:615429	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:615429	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:615429	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:615429	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:615429	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:615429	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:615429	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:615429	CIB2	10518	HP:0000365	Hearing impairment
OMIM:615429	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:615429	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:615429	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:615429	KARS	3735	HP:0000365	Hearing impairment
OMIM:615429	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:615429	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:615429	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:615429	TMC1	117531	HP:0000365	Hearing impairment
OMIM:615429	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:615429	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:615429	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:615429	OTOF	9381	HP:0000365	Hearing impairment
OMIM:615429	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:615429	MYO6	4646	HP:0000365	Hearing impairment
OMIM:615429	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:615429	TMIE	259236	HP:0000365	Hearing impairment
OMIM:615429	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:615429	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:615429	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:615429	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:615429	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:615429	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:615429	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:615429	TPRN	286262	HP:0000365	Hearing impairment
OMIM:615429	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:615429	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:615429	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:615429	GJB6	10804	HP:0000365	Hearing impairment
OMIM:615429	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:615429	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:615429	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:615429	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:615429	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:615429	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:615429	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:615429	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:615429	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:615429	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:615429	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:615429	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:615429	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:615429	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:615429	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:615429	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:615429	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:615429	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:615429	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:615429	CDH23	64072	HP:0000365	Hearing impairment
OMIM:615429	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:615429	RDX	5962	HP:0000365	Hearing impairment
OMIM:615429	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:615429	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:615429	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:615429	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:615429	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:615429	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:615429	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:615429	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:615429	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:615429	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:615429	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:615429	STRC	161497	HP:0000365	Hearing impairment
OMIM:615429	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:615429	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:615429	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:615429	TECTA	7007	HP:0000365	Hearing impairment
OMIM:615429	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:615429	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:615429	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:615429	USH1C	10083	HP:0000365	Hearing impairment
OMIM:615429	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:615429	ADCY1	107	HP:0000365	Hearing impairment
OMIM:615429	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:615429	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:615429	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:615429	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:615429	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:615429	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:615429	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:615429	OTOG	340990	HP:0000365	Hearing impairment
OMIM:615429	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:224410	HSPG2	3339	HP:0000431	Wide nasal bridge
OMIM:224410	HSPG2	3339	HP:0006487	Bowing of the long bones
OMIM:224410	HSPG2	3339	HP:0002093	Respiratory insufficiency
OMIM:224410	HSPG2	3339	HP:0008873	Disproportionate short-limb short stature
OMIM:224410	HSPG2	3339	HP:0000160	Narrow mouth
OMIM:224410	HSPG2	3339	HP:0000272	Malar flattening
OMIM:224410	HSPG2	3339	HP:0002983	Micromelia
OMIM:224410	HSPG2	3339	HP:0000028	Cryptorchidism
OMIM:224410	HSPG2	3339	HP:0003026	Short long bone
OMIM:224410	HSPG2	3339	HP:0012368	Flat face
OMIM:224410	HSPG2	3339	HP:0005257	Thoracic hypoplasia
OMIM:224410	HSPG2	3339	HP:0000358	Posteriorly rotated ears
OMIM:224410	HSPG2	3339	HP:0001376	Limitation of joint mobility
OMIM:224410	HSPG2	3339	HP:0001537	Umbilical hernia
OMIM:224410	HSPG2	3339	HP:0003312	Abnormal form of the vertebral bodies
OMIM:224410	HSPG2	3339	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:224410	HSPG2	3339	HP:0000007	Autosomal recessive inheritance
OMIM:224410	HSPG2	3339	HP:0004298	Abnormality of the abdominal wall
OMIM:224410	HSPG2	3339	HP:0000347	Micrognathia
OMIM:224410	HSPG2	3339	HP:0000944	Abnormality of the metaphyses
OMIM:224410	HSPG2	3339	HP:0001548	Overgrowth
OMIM:224410	HSPG2	3339	HP:0001631	Atria septal defect
OMIM:224410	HSPG2	3339	HP:0004322	Short stature
OMIM:224410	HSPG2	3339	HP:0000457	Depressed nasal ridge
OMIM:224410	HSPG2	3339	HP:0002089	Pulmonary hypoplasia
OMIM:224410	HSPG2	3339	HP:0001762	Talipes equinovarus
OMIM:224410	HSPG2	3339	HP:0000175	Cleft palate
OMIM:224410	HSPG2	3339	HP:0000592	Blue sclerae
OMIM:224410	HSPG2	3339	HP:0000774	Narrow chest
ORPHANET:244	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
ORPHANET:244	CCNO	10309	HP:0002205	Recurrent respiratory infections
ORPHANET:244	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
ORPHANET:244	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
ORPHANET:244	DNAI1	27019	HP:0002205	Recurrent respiratory infections
ORPHANET:244	DRC1	92749	HP:0002205	Recurrent respiratory infections
ORPHANET:244	SPAG1	6674	HP:0002205	Recurrent respiratory infections
ORPHANET:244	RSPH3	83861	HP:0002205	Recurrent respiratory infections
ORPHANET:244	RPGR	6103	HP:0002205	Recurrent respiratory infections
ORPHANET:244	LRRC6	23639	HP:0002205	Recurrent respiratory infections
ORPHANET:244	DNAL1	83544	HP:0002205	Recurrent respiratory infections
ORPHANET:244	ARMC4	55130	HP:0002205	Recurrent respiratory infections
ORPHANET:244	CCDC103	388389	HP:0002205	Recurrent respiratory infections
ORPHANET:244	OFD1	8481	HP:0002205	Recurrent respiratory infections
ORPHANET:244	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
ORPHANET:244	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
ORPHANET:244	RSPH1	89765	HP:0002205	Recurrent respiratory infections
ORPHANET:244	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
ORPHANET:244	DNAH5	1767	HP:0002205	Recurrent respiratory infections
ORPHANET:244	CCDC65	85478	HP:0002205	Recurrent respiratory infections
ORPHANET:244	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
ORPHANET:244	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
ORPHANET:244	CCDC151	115948	HP:0002205	Recurrent respiratory infections
ORPHANET:244	RSPH9	221421	HP:0002205	Recurrent respiratory infections
ORPHANET:244	CCDC39	339829	HP:0002205	Recurrent respiratory infections
ORPHANET:244	HYDIN	54768	HP:0002205	Recurrent respiratory infections
ORPHANET:244	CCDC114	93233	HP:0002205	Recurrent respiratory infections
ORPHANET:244	NME8	51314	HP:0002205	Recurrent respiratory infections
ORPHANET:244	CCDC40	55036	HP:0002205	Recurrent respiratory infections
ORPHANET:244	DNAH11	8701	HP:0002205	Recurrent respiratory infections
ORPHANET:244	DNAI2	64446	HP:0002205	Recurrent respiratory infections
ORPHANET:244	GAS8	2622	HP:0002205	Recurrent respiratory infections
OMIM:615266	PROK2	60675	HP:0000164	Abnormality of the teeth
OMIM:615266	PROK2	60675	HP:0000365	Hearing impairment
OMIM:615266	PROKR2	128674	HP:0000164	Abnormality of the teeth
OMIM:615266	PROKR2	128674	HP:0000365	Hearing impairment
OMIM:615266	SEMA3A	10371	HP:0000164	Abnormality of the teeth
OMIM:615266	SEMA3A	10371	HP:0000365	Hearing impairment
OMIM:615266	IL17RD	54756	HP:0000164	Abnormality of the teeth
OMIM:615266	IL17RD	54756	HP:0000365	Hearing impairment
OMIM:615266	WDR11	55717	HP:0000164	Abnormality of the teeth
OMIM:615266	WDR11	55717	HP:0000365	Hearing impairment
OMIM:615266	KISS1	3814	HP:0000164	Abnormality of the teeth
OMIM:615266	KISS1	3814	HP:0000365	Hearing impairment
OMIM:615266	SOX10	6663	HP:0000164	Abnormality of the teeth
OMIM:615266	SOX10	6663	HP:0000365	Hearing impairment
OMIM:615266	FEZF1	389549	HP:0000164	Abnormality of the teeth
OMIM:615266	FEZF1	389549	HP:0000365	Hearing impairment
OMIM:615266	GNRH1	2796	HP:0000164	Abnormality of the teeth
OMIM:615266	GNRH1	2796	HP:0000365	Hearing impairment
OMIM:615266	FGF8	2253	HP:0000164	Abnormality of the teeth
OMIM:615266	FGF8	2253	HP:0000365	Hearing impairment
OMIM:615266	GNRHR	2798	HP:0000164	Abnormality of the teeth
OMIM:615266	GNRHR	2798	HP:0000365	Hearing impairment
OMIM:615266	ANOS1	3730	HP:0000164	Abnormality of the teeth
OMIM:615266	ANOS1	3730	HP:0000365	Hearing impairment
OMIM:615266	TAC3	6866	HP:0000164	Abnormality of the teeth
OMIM:615266	TAC3	6866	HP:0000365	Hearing impairment
OMIM:615266	HS6ST1	9394	HP:0000164	Abnormality of the teeth
OMIM:615266	HS6ST1	9394	HP:0000365	Hearing impairment
OMIM:615266	CHD7	55636	HP:0000164	Abnormality of the teeth
OMIM:615266	CHD7	55636	HP:0000365	Hearing impairment
OMIM:615266	FGFR1	2260	HP:0000164	Abnormality of the teeth
OMIM:615266	FGFR1	2260	HP:0000365	Hearing impairment
OMIM:615266	HESX1	8820	HP:0000164	Abnormality of the teeth
OMIM:615266	HESX1	8820	HP:0000365	Hearing impairment
OMIM:615266	TACR3	6870	HP:0000164	Abnormality of the teeth
OMIM:615266	TACR3	6870	HP:0000365	Hearing impairment
OMIM:615266	FGF17	8822	HP:0000164	Abnormality of the teeth
OMIM:615266	FGF17	8822	HP:0000365	Hearing impairment
OMIM:615266	FLRT3	23767	HP:0000164	Abnormality of the teeth
OMIM:615266	FLRT3	23767	HP:0000365	Hearing impairment
OMIM:615266	DUSP6	1848	HP:0000164	Abnormality of the teeth
OMIM:615266	DUSP6	1848	HP:0000365	Hearing impairment
OMIM:615266	SPRY4	81848	HP:0000164	Abnormality of the teeth
OMIM:615266	SPRY4	81848	HP:0000365	Hearing impairment
OMIM:615266	KISS1R	84634	HP:0000164	Abnormality of the teeth
OMIM:615266	KISS1R	84634	HP:0000365	Hearing impairment
OMIM:615266	NSMF	26012	HP:0000164	Abnormality of the teeth
OMIM:615266	NSMF	26012	HP:0000365	Hearing impairment
OMIM:611090	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:611090	METTL23	124512	HP:0001249	Intellectual disability
OMIM:611090	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:611090	CRADD	8738	HP:0001249	Intellectual disability
OMIM:611090	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:611090	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:611090	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:611090	FMN2	56776	HP:0001249	Intellectual disability
OMIM:611090	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:611090	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:611090	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:611090	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:611090	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:611090	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:611090	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:611090	LINS1	55180	HP:0001249	Intellectual disability
OMIM:611090	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:611090	NDST1	3340	HP:0001249	Intellectual disability
OMIM:611090	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:611090	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:611090	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:611090	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:611090	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:611090	CRBN	51185	HP:0001249	Intellectual disability
OMIM:611090	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:611090	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:611090	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:611090	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:611090	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:611090	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:611090	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:611090	TECR	9524	HP:0001249	Intellectual disability
OMIM:611090	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:611090	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:611090	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:611090	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:611090	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:611090	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:611090	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:611090	EDC3	80153	HP:0001249	Intellectual disability
OMIM:611090	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:611090	MED13L	23389	HP:0001249	Intellectual disability
OMIM:611090	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:611090	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:611090	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:611090	MED23	9439	HP:0001249	Intellectual disability
OMIM:137750	CYP1B1	1545	HP:0000545	Myopia
OMIM:137750	CYP1B1	1545	HP:0000006	Autosomal dominant inheritance
OMIM:137750	CYP1B1	1545	HP:0000501	Glaucoma
OMIM:137750	MYOC	4653	HP:0000545	Myopia
OMIM:137750	MYOC	4653	HP:0000006	Autosomal dominant inheritance
OMIM:137750	MYOC	4653	HP:0000501	Glaucoma
OMIM:300881	XYLT1	64131	HP:0001620	High pitched voice
OMIM:300881	XYLT1	64131	HP:0001956	Truncal obesity
OMIM:300881	XYLT1	64131	HP:0001419	X-linked recessive inheritance
OMIM:300881	XYLT1	64131	HP:0005257	Thoracic hypoplasia
OMIM:300881	XYLT1	64131	HP:0010535	Sleep apnea
OMIM:300881	XYLT1	64131	HP:0000664	Synophrys
OMIM:300881	XYLT1	64131	HP:0000768	Pectus carinatum
OMIM:300881	XYLT1	64131	HP:0000483	Astigmatism
OMIM:300881	XYLT1	64131	HP:0000678	Dental crowding
OMIM:300881	XYLT1	64131	HP:0001156	Brachydactyly syndrome
OMIM:300881	XYLT1	64131	HP:0000252	Microcephaly
OMIM:300881	XYLT1	64131	HP:0001263	Global developmental delay
OMIM:300881	XYLT1	64131	HP:0000193	Bifid uvula
OMIM:300881	XYLT1	64131	HP:0002162	Low posterior hairline
OMIM:300881	XYLT1	64131	HP:0000286	Epicanthus
OMIM:300881	XYLT1	64131	HP:0000175	Cleft palate
OMIM:300881	XYLT1	64131	HP:0000023	Inguinal hernia
OMIM:300881	XYLT1	64131	HP:0000272	Malar flattening
OMIM:300881	XYLT1	64131	HP:0040199	Flat midface
OMIM:300881	XYLT1	64131	HP:0000668	Hypodontia
OMIM:300881	XYLT1	64131	HP:0002970	Genu varum
OMIM:300881	XYLT1	64131	HP:0008905	Rhizomelia
OMIM:300881	XYLT1	64131	HP:0002938	Lumbar hyperlordosis
OMIM:300881	XYLT1	64131	HP:0000926	Platyspondyly
OMIM:300881	XYLT1	64131	HP:0000750	Delayed speech and language development
OMIM:300881	XYLT1	64131	HP:0010554	Cutaneous finger syndactyly
OMIM:300881	XYLT1	64131	HP:0100864	Short femoral neck
OMIM:300881	XYLT1	64131	HP:0005280	Depressed nasal bridge
OMIM:300881	XYLT1	64131	HP:0003048	Radial head subluxation
OMIM:300881	CANT1	124583	HP:0001620	High pitched voice
OMIM:300881	CANT1	124583	HP:0001956	Truncal obesity
OMIM:300881	CANT1	124583	HP:0001419	X-linked recessive inheritance
OMIM:300881	CANT1	124583	HP:0005257	Thoracic hypoplasia
OMIM:300881	CANT1	124583	HP:0010535	Sleep apnea
OMIM:300881	CANT1	124583	HP:0000664	Synophrys
OMIM:300881	CANT1	124583	HP:0000768	Pectus carinatum
OMIM:300881	CANT1	124583	HP:0000483	Astigmatism
OMIM:300881	CANT1	124583	HP:0000678	Dental crowding
OMIM:300881	CANT1	124583	HP:0001156	Brachydactyly syndrome
OMIM:300881	CANT1	124583	HP:0000252	Microcephaly
OMIM:300881	CANT1	124583	HP:0001263	Global developmental delay
OMIM:300881	CANT1	124583	HP:0000193	Bifid uvula
OMIM:300881	CANT1	124583	HP:0002162	Low posterior hairline
OMIM:300881	CANT1	124583	HP:0000286	Epicanthus
OMIM:300881	CANT1	124583	HP:0000175	Cleft palate
OMIM:300881	CANT1	124583	HP:0000023	Inguinal hernia
OMIM:300881	CANT1	124583	HP:0000272	Malar flattening
OMIM:300881	CANT1	124583	HP:0040199	Flat midface
OMIM:300881	CANT1	124583	HP:0000668	Hypodontia
OMIM:300881	CANT1	124583	HP:0002970	Genu varum
OMIM:300881	CANT1	124583	HP:0008905	Rhizomelia
OMIM:300881	CANT1	124583	HP:0002938	Lumbar hyperlordosis
OMIM:300881	CANT1	124583	HP:0000926	Platyspondyly
OMIM:300881	CANT1	124583	HP:0000750	Delayed speech and language development
OMIM:300881	CANT1	124583	HP:0010554	Cutaneous finger syndactyly
OMIM:300881	CANT1	124583	HP:0100864	Short femoral neck
OMIM:300881	CANT1	124583	HP:0005280	Depressed nasal bridge
OMIM:300881	CANT1	124583	HP:0003048	Radial head subluxation
OMIM:615436	TGFB2	7042	HP:0000006	Autosomal dominant inheritance
OMIM:615436	TGFB2	7042	HP:0012727	Thoracic aortic aneurysm
OMIM:615436	MYH11	4629	HP:0000006	Autosomal dominant inheritance
OMIM:615436	MYH11	4629	HP:0012727	Thoracic aortic aneurysm
OMIM:615436	TGFBR1	7046	HP:0000006	Autosomal dominant inheritance
OMIM:615436	TGFBR1	7046	HP:0012727	Thoracic aortic aneurysm
OMIM:615436	PRKG1	5592	HP:0000006	Autosomal dominant inheritance
OMIM:615436	PRKG1	5592	HP:0012727	Thoracic aortic aneurysm
OMIM:615436	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:615436	TGFBR2	7048	HP:0012727	Thoracic aortic aneurysm
OMIM:615436	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:615436	FBN1	2200	HP:0012727	Thoracic aortic aneurysm
OMIM:615436	SMAD3	4088	HP:0000006	Autosomal dominant inheritance
OMIM:615436	SMAD3	4088	HP:0012727	Thoracic aortic aneurysm
OMIM:615436	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:615436	ACTA2	59	HP:0012727	Thoracic aortic aneurysm
OMIM:615436	MFAP5	8076	HP:0000006	Autosomal dominant inheritance
OMIM:615436	MFAP5	8076	HP:0012727	Thoracic aortic aneurysm
OMIM:615436	MYLK	4638	HP:0000006	Autosomal dominant inheritance
OMIM:615436	MYLK	4638	HP:0012727	Thoracic aortic aneurysm
OMIM:206200	TMPRSS6	164656	HP:0000007	Autosomal recessive inheritance
OMIM:187601	FGFR3	2261	HP:0001156	Brachydactyly syndrome
OMIM:187601	FGFR3	2261	HP:0001561	Polyhydramnios
OMIM:187601	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:187601	FGFR3	2261	HP:0000774	Narrow chest
OMIM:187601	FGFR3	2261	HP:0002677	Small foramen magnum
OMIM:187601	FGFR3	2261	HP:0003015	Flared metaphysis
OMIM:187601	FGFR3	2261	HP:0003025	Metaphyseal irregularity
OMIM:187601	FGFR3	2261	HP:0000773	Short ribs
OMIM:187601	FGFR3	2261	HP:0002093	Respiratory insufficiency
OMIM:187601	FGFR3	2261	HP:0000274	Small face
OMIM:187601	FGFR3	2261	HP:0000926	Platyspondyly
OMIM:187601	FGFR3	2261	HP:0000946	Hypoplastic ilia
OMIM:187601	FGFR3	2261	HP:0001558	Decreased fetal movement
OMIM:158320	MSH2	4436	HP:0004377	Hematological neoplasm
OMIM:158320	MSH2	4436	HP:0003002	Breast carcinoma
OMIM:158320	MSH2	4436	HP:0100273	Neoplasm of the colon
OMIM:158320	MSH2	4436	HP:0009726	Renal neoplasm
OMIM:158320	MSH2	4436	HP:0000006	Autosomal dominant inheritance
OMIM:158320	MSH2	4436	HP:0100615	Ovarian neoplasm
OMIM:158320	MSH2	4436	HP:0100013	Neoplasm of the breast
OMIM:158320	MSH2	4436	HP:0002253	Colonic diverticula
OMIM:158320	MSH2	4436	HP:0006753	Neoplasm of the stomach
OMIM:158320	MLH1	4292	HP:0004377	Hematological neoplasm
OMIM:158320	MLH1	4292	HP:0003002	Breast carcinoma
OMIM:158320	MLH1	4292	HP:0100273	Neoplasm of the colon
OMIM:158320	MLH1	4292	HP:0009726	Renal neoplasm
OMIM:158320	MLH1	4292	HP:0000006	Autosomal dominant inheritance
OMIM:158320	MLH1	4292	HP:0100615	Ovarian neoplasm
OMIM:158320	MLH1	4292	HP:0100013	Neoplasm of the breast
OMIM:158320	MLH1	4292	HP:0002253	Colonic diverticula
OMIM:158320	MLH1	4292	HP:0006753	Neoplasm of the stomach
OMIM:158320	MSH6	2956	HP:0004377	Hematological neoplasm
OMIM:158320	MSH6	2956	HP:0003002	Breast carcinoma
OMIM:158320	MSH6	2956	HP:0100273	Neoplasm of the colon
OMIM:158320	MSH6	2956	HP:0009726	Renal neoplasm
OMIM:158320	MSH6	2956	HP:0000006	Autosomal dominant inheritance
OMIM:158320	MSH6	2956	HP:0100615	Ovarian neoplasm
OMIM:158320	MSH6	2956	HP:0100013	Neoplasm of the breast
OMIM:158320	MSH6	2956	HP:0002253	Colonic diverticula
OMIM:158320	MSH6	2956	HP:0006753	Neoplasm of the stomach
ORPHANET:99798	IRF6	3664	HP:0009804	Reduced number of teeth
ORPHANET:99798	IRF6	3664	HP:0000347	Micrognathia
ORPHANET:99798	IRF6	3664	HP:0000691	Microdontia
ORPHANET:99798	EDARADD	128178	HP:0009804	Reduced number of teeth
ORPHANET:99798	EDARADD	128178	HP:0000347	Micrognathia
ORPHANET:99798	EDARADD	128178	HP:0000691	Microdontia
ORPHANET:99798	FGFR1	2260	HP:0009804	Reduced number of teeth
ORPHANET:99798	FGFR1	2260	HP:0000347	Micrognathia
ORPHANET:99798	FGFR1	2260	HP:0000691	Microdontia
ORPHANET:99798	LTBP3	4054	HP:0009804	Reduced number of teeth
ORPHANET:99798	LTBP3	4054	HP:0000347	Micrognathia
ORPHANET:99798	LTBP3	4054	HP:0000691	Microdontia
ORPHANET:99798	WNT10A	80326	HP:0009804	Reduced number of teeth
ORPHANET:99798	WNT10A	80326	HP:0000347	Micrognathia
ORPHANET:99798	WNT10A	80326	HP:0000691	Microdontia
ORPHANET:99798	MSX1	4487	HP:0009804	Reduced number of teeth
ORPHANET:99798	MSX1	4487	HP:0000347	Micrognathia
ORPHANET:99798	MSX1	4487	HP:0000691	Microdontia
ORPHANET:99798	EDA	1896	HP:0009804	Reduced number of teeth
ORPHANET:99798	EDA	1896	HP:0000347	Micrognathia
ORPHANET:99798	EDA	1896	HP:0000691	Microdontia
ORPHANET:99798	LRP6	4040	HP:0009804	Reduced number of teeth
ORPHANET:99798	LRP6	4040	HP:0000347	Micrognathia
ORPHANET:99798	LRP6	4040	HP:0000691	Microdontia
ORPHANET:99798	AXIN2	8313	HP:0009804	Reduced number of teeth
ORPHANET:99798	AXIN2	8313	HP:0000347	Micrognathia
ORPHANET:99798	AXIN2	8313	HP:0000691	Microdontia
ORPHANET:99798	PAX9	5083	HP:0009804	Reduced number of teeth
ORPHANET:99798	PAX9	5083	HP:0000347	Micrognathia
ORPHANET:99798	PAX9	5083	HP:0000691	Microdontia
ORPHANET:99798	TGFA	7039	HP:0009804	Reduced number of teeth
ORPHANET:99798	TGFA	7039	HP:0000347	Micrognathia
ORPHANET:99798	TGFA	7039	HP:0000691	Microdontia
OMIM:268305	EIF4A3	9775	HP:0004209	Clinodactyly of the 5th finger
OMIM:268305	EIF4A3	9775	HP:0001263	Global developmental delay
OMIM:268305	EIF4A3	9775	HP:0000347	Micrognathia
OMIM:268305	EIF4A3	9775	HP:0000411	Protruding ear
OMIM:268305	EIF4A3	9775	HP:0008807	Acetabular dysplasia
OMIM:268305	EIF4A3	9775	HP:0000007	Autosomal recessive inheritance
OMIM:268305	EIF4A3	9775	HP:0002992	Abnormality of the tibia
OMIM:268305	EIF4A3	9775	HP:0000308	Microretrognathia
OMIM:268305	EIF4A3	9775	HP:0000369	Low-set ears
OMIM:268305	EIF4A3	9775	HP:0005736	Short tibia
OMIM:268305	EIF4A3	9775	HP:0001608	Abnormality of the voice
OMIM:268305	EIF4A3	9775	HP:0000162	Glossoptosis
OMIM:268305	EIF4A3	9775	HP:0003038	Fibular hypoplasia
OMIM:268305	EIF4A3	9775	HP:0004322	Short stature
OMIM:268305	EIF4A3	9775	HP:0009778	Short thumb
OMIM:268305	EIF4A3	9775	HP:0001883	Talipes
OMIM:268305	EIF4A3	9775	HP:0010752	Cleft mandible
OMIM:268305	EIF4A3	9775	HP:0002984	Hypoplasia of the radius
OMIM:268305	EIF4A3	9775	HP:0000160	Narrow mouth
OMIM:268305	EIF4A3	9775	HP:0000218	High palate
OMIM:268305	EIF4A3	9775	HP:0009094	Cleft lower alveolar ridge
OMIM:268305	EIF4A3	9775	HP:0000175	Cleft palate
OMIM:268305	EIF4A3	9775	HP:0006355	Agenesis of mandibular central incisor
OMIM:268305	EIF4A3	9775	HP:0010049	Short metacarpal
OMIM:268305	EIF4A3	9775	HP:0002006	Facial cleft
OMIM:268305	EIF4A3	9775	HP:0000193	Bifid uvula
OMIM:268305	EIF4A3	9775	HP:0009803	Short phalanx of finger
OMIM:268305	EIF4A3	9775	HP:0100499	Tibial deviation of toes
OMIM:268305	EIF4A3	9775	HP:0009623	Proximal placement of thumb
OMIM:268305	EIF4A3	9775	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:268305	EIF4A3	9775	HP:0008744	Abnormality of the aryepiglottic fold
OMIM:268305	EIF4A3	9775	HP:0001163	Abnormality of the metacarpal bones
OMIM:268305	EIF4A3	9775	HP:0000201	Pierre-Robin sequence
OMIM:268305	EIF4A3	9775	HP:0000368	Low-set, posteriorly rotated ears
OMIM:268305	EIF4A3	9775	HP:0002093	Respiratory insufficiency
OMIM:268305	EIF4A3	9775	HP:0002827	Hip dislocation
OMIM:268305	EIF4A3	9775	HP:0000448	Prominent nose
OMIM:268305	EIF4A3	9775	HP:0011968	Feeding difficulties
OMIM:268305	EIF4A3	9775	HP:0030043	Hip Subluxation
OMIM:268305	EIF4A3	9775	HP:0009486	Radial deviation of the hand
OMIM:268305	EIF4A3	9775	HP:0001762	Talipes equinovarus
OMIM:268305	EIF4A3	9775	HP:0004059	Radial club hand
OMIM:268305	EIF4A3	9775	HP:0009804	Reduced number of teeth
OMIM:268305	EIF4A3	9775	HP:0000377	Abnormality of the pinna
OMIM:268305	EIF4A3	9775	HP:0008753	Aplasia of the epiglottis
ORPHANET:93111	HNF1B	6928	HP:0000112	Nephropathy
ORPHANET:93111	HNF1B	6928	HP:0001369	Arthritis
ORPHANET:93111	HNF1B	6928	HP:0000008	Abnormality of female internal genitalia
ORPHANET:93111	HNF1B	6928	HP:0002021	Pyloric stenosis
ORPHANET:93111	HNF1B	6928	HP:0000821	Hypothyroidism
ORPHANET:93111	HNF1B	6928	HP:0000003	Multicystic kidney dysplasia
ORPHANET:93111	HNF1B	6928	HP:0001382	Joint hypermobility
ORPHANET:93111	HNF1B	6928	HP:0000365	Hearing impairment
ORPHANET:93111	HNF1B	6928	HP:0100542	Abnormal localization of kidney
ORPHANET:93111	HNF1B	6928	HP:0002149	Hyperuricemia
ORPHANET:93111	HNF1B	6928	HP:0100627	Displacement of the external urethral meatus
ORPHANET:93111	HNF1B	6928	HP:0000303	Mandibular prognathia
ORPHANET:93111	HNF1B	6928	HP:0002910	Elevated hepatic transaminases
ORPHANET:93111	HNF1B	6928	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:93111	HNF1B	6928	HP:0100543	Cognitive impairment
ORPHANET:93111	HNF1B	6928	HP:0000022	Abnormality of male internal genitalia
ORPHANET:93111	HNF1B	6928	HP:0001397	Hepatic steatosis
ORPHANET:93111	HNF1B	6928	HP:0000819	Diabetes mellitus
ORPHANET:93111	HNF4A	3172	HP:0000112	Nephropathy
ORPHANET:93111	HNF4A	3172	HP:0001369	Arthritis
ORPHANET:93111	HNF4A	3172	HP:0000008	Abnormality of female internal genitalia
ORPHANET:93111	HNF4A	3172	HP:0002021	Pyloric stenosis
ORPHANET:93111	HNF4A	3172	HP:0000821	Hypothyroidism
ORPHANET:93111	HNF4A	3172	HP:0000003	Multicystic kidney dysplasia
ORPHANET:93111	HNF4A	3172	HP:0001382	Joint hypermobility
ORPHANET:93111	HNF4A	3172	HP:0000365	Hearing impairment
ORPHANET:93111	HNF4A	3172	HP:0100542	Abnormal localization of kidney
ORPHANET:93111	HNF4A	3172	HP:0002149	Hyperuricemia
ORPHANET:93111	HNF4A	3172	HP:0100627	Displacement of the external urethral meatus
ORPHANET:93111	HNF4A	3172	HP:0000303	Mandibular prognathia
ORPHANET:93111	HNF4A	3172	HP:0002910	Elevated hepatic transaminases
ORPHANET:93111	HNF4A	3172	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:93111	HNF4A	3172	HP:0100543	Cognitive impairment
ORPHANET:93111	HNF4A	3172	HP:0000022	Abnormality of male internal genitalia
ORPHANET:93111	HNF4A	3172	HP:0001397	Hepatic steatosis
ORPHANET:93111	HNF4A	3172	HP:0000819	Diabetes mellitus
OMIM:604804	ASPM	259266	HP:0000007	Autosomal recessive inheritance
OMIM:604804	ASPM	259266	HP:0009879	Cortical gyral simplification
OMIM:604804	ASPM	259266	HP:0002342	Intellectual disability, moderate
OMIM:604804	ASPM	259266	HP:0000407	Sensorineural hearing impairment
OMIM:604804	ASPM	259266	HP:0000340	Sloping forehead
OMIM:604804	ASPM	259266	HP:0000520	Proptosis
OMIM:604804	ASPM	259266	HP:0000252	Microcephaly
OMIM:604804	ASPM	259266	HP:0001263	Global developmental delay
OMIM:604804	MCPH1	79648	HP:0000007	Autosomal recessive inheritance
OMIM:604804	MCPH1	79648	HP:0009879	Cortical gyral simplification
OMIM:604804	MCPH1	79648	HP:0002342	Intellectual disability, moderate
OMIM:604804	MCPH1	79648	HP:0000407	Sensorineural hearing impairment
OMIM:604804	MCPH1	79648	HP:0000340	Sloping forehead
OMIM:604804	MCPH1	79648	HP:0000520	Proptosis
OMIM:604804	MCPH1	79648	HP:0000252	Microcephaly
OMIM:604804	MCPH1	79648	HP:0001263	Global developmental delay
OMIM:604804	ANKLE2	23141	HP:0000007	Autosomal recessive inheritance
OMIM:604804	ANKLE2	23141	HP:0009879	Cortical gyral simplification
OMIM:604804	ANKLE2	23141	HP:0002342	Intellectual disability, moderate
OMIM:604804	ANKLE2	23141	HP:0000407	Sensorineural hearing impairment
OMIM:604804	ANKLE2	23141	HP:0000340	Sloping forehead
OMIM:604804	ANKLE2	23141	HP:0000520	Proptosis
OMIM:604804	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:604804	ANKLE2	23141	HP:0001263	Global developmental delay
OMIM:604804	SASS6	163786	HP:0000007	Autosomal recessive inheritance
OMIM:604804	SASS6	163786	HP:0009879	Cortical gyral simplification
OMIM:604804	SASS6	163786	HP:0002342	Intellectual disability, moderate
OMIM:604804	SASS6	163786	HP:0000407	Sensorineural hearing impairment
OMIM:604804	SASS6	163786	HP:0000340	Sloping forehead
OMIM:604804	SASS6	163786	HP:0000520	Proptosis
OMIM:604804	SASS6	163786	HP:0000252	Microcephaly
OMIM:604804	SASS6	163786	HP:0001263	Global developmental delay
OMIM:604804	CDK5RAP2	55755	HP:0000007	Autosomal recessive inheritance
OMIM:604804	CDK5RAP2	55755	HP:0009879	Cortical gyral simplification
OMIM:604804	CDK5RAP2	55755	HP:0002342	Intellectual disability, moderate
OMIM:604804	CDK5RAP2	55755	HP:0000407	Sensorineural hearing impairment
OMIM:604804	CDK5RAP2	55755	HP:0000340	Sloping forehead
OMIM:604804	CDK5RAP2	55755	HP:0000520	Proptosis
OMIM:604804	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:604804	CDK5RAP2	55755	HP:0001263	Global developmental delay
OMIM:604804	MFSD2A	84879	HP:0000007	Autosomal recessive inheritance
OMIM:604804	MFSD2A	84879	HP:0009879	Cortical gyral simplification
OMIM:604804	MFSD2A	84879	HP:0002342	Intellectual disability, moderate
OMIM:604804	MFSD2A	84879	HP:0000407	Sensorineural hearing impairment
OMIM:604804	MFSD2A	84879	HP:0000340	Sloping forehead
OMIM:604804	MFSD2A	84879	HP:0000520	Proptosis
OMIM:604804	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:604804	MFSD2A	84879	HP:0001263	Global developmental delay
OMIM:604804	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:604804	CEP152	22995	HP:0009879	Cortical gyral simplification
OMIM:604804	CEP152	22995	HP:0002342	Intellectual disability, moderate
OMIM:604804	CEP152	22995	HP:0000407	Sensorineural hearing impairment
OMIM:604804	CEP152	22995	HP:0000340	Sloping forehead
OMIM:604804	CEP152	22995	HP:0000520	Proptosis
OMIM:604804	CEP152	22995	HP:0000252	Microcephaly
OMIM:604804	CEP152	22995	HP:0001263	Global developmental delay
OMIM:604804	WDR62	284403	HP:0000007	Autosomal recessive inheritance
OMIM:604804	WDR62	284403	HP:0009879	Cortical gyral simplification
OMIM:604804	WDR62	284403	HP:0002342	Intellectual disability, moderate
OMIM:604804	WDR62	284403	HP:0000407	Sensorineural hearing impairment
OMIM:604804	WDR62	284403	HP:0000340	Sloping forehead
OMIM:604804	WDR62	284403	HP:0000520	Proptosis
OMIM:604804	WDR62	284403	HP:0000252	Microcephaly
OMIM:604804	WDR62	284403	HP:0001263	Global developmental delay
OMIM:604804	PHC1	1911	HP:0000007	Autosomal recessive inheritance
OMIM:604804	PHC1	1911	HP:0009879	Cortical gyral simplification
OMIM:604804	PHC1	1911	HP:0002342	Intellectual disability, moderate
OMIM:604804	PHC1	1911	HP:0000407	Sensorineural hearing impairment
OMIM:604804	PHC1	1911	HP:0000340	Sloping forehead
OMIM:604804	PHC1	1911	HP:0000520	Proptosis
OMIM:604804	PHC1	1911	HP:0000252	Microcephaly
OMIM:604804	PHC1	1911	HP:0001263	Global developmental delay
OMIM:604804	CASC5	57082	HP:0000007	Autosomal recessive inheritance
OMIM:604804	CASC5	57082	HP:0009879	Cortical gyral simplification
OMIM:604804	CASC5	57082	HP:0002342	Intellectual disability, moderate
OMIM:604804	CASC5	57082	HP:0000407	Sensorineural hearing impairment
OMIM:604804	CASC5	57082	HP:0000340	Sloping forehead
OMIM:604804	CASC5	57082	HP:0000520	Proptosis
OMIM:604804	CASC5	57082	HP:0000252	Microcephaly
OMIM:604804	CASC5	57082	HP:0001263	Global developmental delay
OMIM:604804	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:604804	CENPJ	55835	HP:0009879	Cortical gyral simplification
OMIM:604804	CENPJ	55835	HP:0002342	Intellectual disability, moderate
OMIM:604804	CENPJ	55835	HP:0000407	Sensorineural hearing impairment
OMIM:604804	CENPJ	55835	HP:0000340	Sloping forehead
OMIM:604804	CENPJ	55835	HP:0000520	Proptosis
OMIM:604804	CENPJ	55835	HP:0000252	Microcephaly
OMIM:604804	CENPJ	55835	HP:0001263	Global developmental delay
OMIM:604804	STIL	6491	HP:0000007	Autosomal recessive inheritance
OMIM:604804	STIL	6491	HP:0009879	Cortical gyral simplification
OMIM:604804	STIL	6491	HP:0002342	Intellectual disability, moderate
OMIM:604804	STIL	6491	HP:0000407	Sensorineural hearing impairment
OMIM:604804	STIL	6491	HP:0000340	Sloping forehead
OMIM:604804	STIL	6491	HP:0000520	Proptosis
OMIM:604804	STIL	6491	HP:0000252	Microcephaly
OMIM:604804	STIL	6491	HP:0001263	Global developmental delay
OMIM:604804	CDK6	1021	HP:0000007	Autosomal recessive inheritance
OMIM:604804	CDK6	1021	HP:0009879	Cortical gyral simplification
OMIM:604804	CDK6	1021	HP:0002342	Intellectual disability, moderate
OMIM:604804	CDK6	1021	HP:0000407	Sensorineural hearing impairment
OMIM:604804	CDK6	1021	HP:0000340	Sloping forehead
OMIM:604804	CDK6	1021	HP:0000520	Proptosis
OMIM:604804	CDK6	1021	HP:0000252	Microcephaly
OMIM:604804	CDK6	1021	HP:0001263	Global developmental delay
OMIM:604804	CEP135	9662	HP:0000007	Autosomal recessive inheritance
OMIM:604804	CEP135	9662	HP:0009879	Cortical gyral simplification
OMIM:604804	CEP135	9662	HP:0002342	Intellectual disability, moderate
OMIM:604804	CEP135	9662	HP:0000407	Sensorineural hearing impairment
OMIM:604804	CEP135	9662	HP:0000340	Sloping forehead
OMIM:604804	CEP135	9662	HP:0000520	Proptosis
OMIM:604804	CEP135	9662	HP:0000252	Microcephaly
OMIM:604804	CEP135	9662	HP:0001263	Global developmental delay
OMIM:604804	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:604804	CEP63	80254	HP:0009879	Cortical gyral simplification
OMIM:604804	CEP63	80254	HP:0002342	Intellectual disability, moderate
OMIM:604804	CEP63	80254	HP:0000407	Sensorineural hearing impairment
OMIM:604804	CEP63	80254	HP:0000340	Sloping forehead
OMIM:604804	CEP63	80254	HP:0000520	Proptosis
OMIM:604804	CEP63	80254	HP:0000252	Microcephaly
OMIM:604804	CEP63	80254	HP:0001263	Global developmental delay
OMIM:615297	NOTCH1	4851	HP:0001831	Short toe
OMIM:615297	NOTCH1	4851	HP:0001800	Hypoplastic toenails
OMIM:615297	NOTCH1	4851	HP:0000007	Autosomal recessive inheritance
OMIM:615297	NOTCH1	4851	HP:0001537	Umbilical hernia
OMIM:615297	NOTCH1	4851	HP:0003812	Phenotypic variability
OMIM:615297	NOTCH1	4851	HP:0001629	Ventricular septal defect
OMIM:615297	NOTCH1	4851	HP:0001643	Patent ductus arteriosus
OMIM:615297	NOTCH1	4851	HP:0000965	Cutis marmorata
OMIM:615297	NOTCH1	4851	HP:0001631	Atria septal defect
OMIM:615297	DOCK6	57572	HP:0001831	Short toe
OMIM:615297	DOCK6	57572	HP:0001800	Hypoplastic toenails
OMIM:615297	DOCK6	57572	HP:0000007	Autosomal recessive inheritance
OMIM:615297	DOCK6	57572	HP:0001537	Umbilical hernia
OMIM:615297	DOCK6	57572	HP:0003812	Phenotypic variability
OMIM:615297	DOCK6	57572	HP:0001629	Ventricular septal defect
OMIM:615297	DOCK6	57572	HP:0001643	Patent ductus arteriosus
OMIM:615297	DOCK6	57572	HP:0000965	Cutis marmorata
OMIM:615297	DOCK6	57572	HP:0001631	Atria septal defect
OMIM:615297	EOGT	285203	HP:0001831	Short toe
OMIM:615297	EOGT	285203	HP:0001800	Hypoplastic toenails
OMIM:615297	EOGT	285203	HP:0000007	Autosomal recessive inheritance
OMIM:615297	EOGT	285203	HP:0001537	Umbilical hernia
OMIM:615297	EOGT	285203	HP:0003812	Phenotypic variability
OMIM:615297	EOGT	285203	HP:0001629	Ventricular septal defect
OMIM:615297	EOGT	285203	HP:0001643	Patent ductus arteriosus
OMIM:615297	EOGT	285203	HP:0000965	Cutis marmorata
OMIM:615297	EOGT	285203	HP:0001631	Atria septal defect
OMIM:615297	DLL4	54567	HP:0001831	Short toe
OMIM:615297	DLL4	54567	HP:0001800	Hypoplastic toenails
OMIM:615297	DLL4	54567	HP:0000007	Autosomal recessive inheritance
OMIM:615297	DLL4	54567	HP:0001537	Umbilical hernia
OMIM:615297	DLL4	54567	HP:0003812	Phenotypic variability
OMIM:615297	DLL4	54567	HP:0001629	Ventricular septal defect
OMIM:615297	DLL4	54567	HP:0001643	Patent ductus arteriosus
OMIM:615297	DLL4	54567	HP:0000965	Cutis marmorata
OMIM:615297	DLL4	54567	HP:0001631	Atria septal defect
OMIM:615297	ARHGAP31	57514	HP:0001831	Short toe
OMIM:615297	ARHGAP31	57514	HP:0001800	Hypoplastic toenails
OMIM:615297	ARHGAP31	57514	HP:0000007	Autosomal recessive inheritance
OMIM:615297	ARHGAP31	57514	HP:0001537	Umbilical hernia
OMIM:615297	ARHGAP31	57514	HP:0003812	Phenotypic variability
OMIM:615297	ARHGAP31	57514	HP:0001629	Ventricular septal defect
OMIM:615297	ARHGAP31	57514	HP:0001643	Patent ductus arteriosus
OMIM:615297	ARHGAP31	57514	HP:0000965	Cutis marmorata
OMIM:615297	ARHGAP31	57514	HP:0001631	Atria septal defect
OMIM:615297	RBPJ	3516	HP:0001831	Short toe
OMIM:615297	RBPJ	3516	HP:0001800	Hypoplastic toenails
OMIM:615297	RBPJ	3516	HP:0000007	Autosomal recessive inheritance
OMIM:615297	RBPJ	3516	HP:0001537	Umbilical hernia
OMIM:615297	RBPJ	3516	HP:0003812	Phenotypic variability
OMIM:615297	RBPJ	3516	HP:0001629	Ventricular septal defect
OMIM:615297	RBPJ	3516	HP:0001643	Patent ductus arteriosus
OMIM:615297	RBPJ	3516	HP:0000965	Cutis marmorata
OMIM:615297	RBPJ	3516	HP:0001631	Atria septal defect
OMIM:615120	LRP4	4038	HP:0010628	Facial palsy
OMIM:615120	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:615120	LRP4	4038	HP:0000508	Ptosis
OMIM:615120	LRP4	4038	HP:0000774	Narrow chest
OMIM:615120	LRP4	4038	HP:0000218	High palate
OMIM:615120	LRP4	4038	HP:0003828	Variable expressivity
OMIM:615120	LRP4	4038	HP:0002093	Respiratory insufficiency
OMIM:615120	AGRN	375790	HP:0010628	Facial palsy
OMIM:615120	AGRN	375790	HP:0000007	Autosomal recessive inheritance
OMIM:615120	AGRN	375790	HP:0000508	Ptosis
OMIM:615120	AGRN	375790	HP:0000774	Narrow chest
OMIM:615120	AGRN	375790	HP:0000218	High palate
OMIM:615120	AGRN	375790	HP:0003828	Variable expressivity
OMIM:615120	AGRN	375790	HP:0002093	Respiratory insufficiency
OMIM:615120	CHRNA1	1134	HP:0010628	Facial palsy
OMIM:615120	CHRNA1	1134	HP:0000007	Autosomal recessive inheritance
OMIM:615120	CHRNA1	1134	HP:0000508	Ptosis
OMIM:615120	CHRNA1	1134	HP:0000774	Narrow chest
OMIM:615120	CHRNA1	1134	HP:0000218	High palate
OMIM:615120	CHRNA1	1134	HP:0003828	Variable expressivity
OMIM:615120	CHRNA1	1134	HP:0002093	Respiratory insufficiency
OMIM:615120	CHAT	1103	HP:0010628	Facial palsy
OMIM:615120	CHAT	1103	HP:0000007	Autosomal recessive inheritance
OMIM:615120	CHAT	1103	HP:0000508	Ptosis
OMIM:615120	CHAT	1103	HP:0000774	Narrow chest
OMIM:615120	CHAT	1103	HP:0000218	High palate
OMIM:615120	CHAT	1103	HP:0003828	Variable expressivity
OMIM:615120	CHAT	1103	HP:0002093	Respiratory insufficiency
OMIM:615120	SLC25A1	6576	HP:0010628	Facial palsy
OMIM:615120	SLC25A1	6576	HP:0000007	Autosomal recessive inheritance
OMIM:615120	SLC25A1	6576	HP:0000508	Ptosis
OMIM:615120	SLC25A1	6576	HP:0000774	Narrow chest
OMIM:615120	SLC25A1	6576	HP:0000218	High palate
OMIM:615120	SLC25A1	6576	HP:0003828	Variable expressivity
OMIM:615120	SLC25A1	6576	HP:0002093	Respiratory insufficiency
OMIM:615120	MUSK	4593	HP:0010628	Facial palsy
OMIM:615120	MUSK	4593	HP:0000007	Autosomal recessive inheritance
OMIM:615120	MUSK	4593	HP:0000508	Ptosis
OMIM:615120	MUSK	4593	HP:0000774	Narrow chest
OMIM:615120	MUSK	4593	HP:0000218	High palate
OMIM:615120	MUSK	4593	HP:0003828	Variable expressivity
OMIM:615120	MUSK	4593	HP:0002093	Respiratory insufficiency
OMIM:615120	CHRNB1	1140	HP:0010628	Facial palsy
OMIM:615120	CHRNB1	1140	HP:0000007	Autosomal recessive inheritance
OMIM:615120	CHRNB1	1140	HP:0000508	Ptosis
OMIM:615120	CHRNB1	1140	HP:0000774	Narrow chest
OMIM:615120	CHRNB1	1140	HP:0000218	High palate
OMIM:615120	CHRNB1	1140	HP:0003828	Variable expressivity
OMIM:615120	CHRNB1	1140	HP:0002093	Respiratory insufficiency
OMIM:615120	DOK7	285489	HP:0010628	Facial palsy
OMIM:615120	DOK7	285489	HP:0000007	Autosomal recessive inheritance
OMIM:615120	DOK7	285489	HP:0000508	Ptosis
OMIM:615120	DOK7	285489	HP:0000774	Narrow chest
OMIM:615120	DOK7	285489	HP:0000218	High palate
OMIM:615120	DOK7	285489	HP:0003828	Variable expressivity
OMIM:615120	DOK7	285489	HP:0002093	Respiratory insufficiency
OMIM:615120	SNAP25	6616	HP:0010628	Facial palsy
OMIM:615120	SNAP25	6616	HP:0000007	Autosomal recessive inheritance
OMIM:615120	SNAP25	6616	HP:0000508	Ptosis
OMIM:615120	SNAP25	6616	HP:0000774	Narrow chest
OMIM:615120	SNAP25	6616	HP:0000218	High palate
OMIM:615120	SNAP25	6616	HP:0003828	Variable expressivity
OMIM:615120	SNAP25	6616	HP:0002093	Respiratory insufficiency
OMIM:615120	SYT2	127833	HP:0010628	Facial palsy
OMIM:615120	SYT2	127833	HP:0000007	Autosomal recessive inheritance
OMIM:615120	SYT2	127833	HP:0000508	Ptosis
OMIM:615120	SYT2	127833	HP:0000774	Narrow chest
OMIM:615120	SYT2	127833	HP:0000218	High palate
OMIM:615120	SYT2	127833	HP:0003828	Variable expressivity
OMIM:615120	SYT2	127833	HP:0002093	Respiratory insufficiency
OMIM:615120	CHRND	1144	HP:0010628	Facial palsy
OMIM:615120	CHRND	1144	HP:0000007	Autosomal recessive inheritance
OMIM:615120	CHRND	1144	HP:0000508	Ptosis
OMIM:615120	CHRND	1144	HP:0000774	Narrow chest
OMIM:615120	CHRND	1144	HP:0000218	High palate
OMIM:615120	CHRND	1144	HP:0003828	Variable expressivity
OMIM:615120	CHRND	1144	HP:0002093	Respiratory insufficiency
OMIM:615120	RAPSN	5913	HP:0010628	Facial palsy
OMIM:615120	RAPSN	5913	HP:0000007	Autosomal recessive inheritance
OMIM:615120	RAPSN	5913	HP:0000508	Ptosis
OMIM:615120	RAPSN	5913	HP:0000774	Narrow chest
OMIM:615120	RAPSN	5913	HP:0000218	High palate
OMIM:615120	RAPSN	5913	HP:0003828	Variable expressivity
OMIM:615120	RAPSN	5913	HP:0002093	Respiratory insufficiency
OMIM:615120	SCN4A	6329	HP:0010628	Facial palsy
OMIM:615120	SCN4A	6329	HP:0000007	Autosomal recessive inheritance
OMIM:615120	SCN4A	6329	HP:0000508	Ptosis
OMIM:615120	SCN4A	6329	HP:0000774	Narrow chest
OMIM:615120	SCN4A	6329	HP:0000218	High palate
OMIM:615120	SCN4A	6329	HP:0003828	Variable expressivity
OMIM:615120	SCN4A	6329	HP:0002093	Respiratory insufficiency
OMIM:615120	CHRNE	1145	HP:0010628	Facial palsy
OMIM:615120	CHRNE	1145	HP:0000007	Autosomal recessive inheritance
OMIM:615120	CHRNE	1145	HP:0000508	Ptosis
OMIM:615120	CHRNE	1145	HP:0000774	Narrow chest
OMIM:615120	CHRNE	1145	HP:0000218	High palate
OMIM:615120	CHRNE	1145	HP:0003828	Variable expressivity
OMIM:615120	CHRNE	1145	HP:0002093	Respiratory insufficiency
OMIM:165500	OPA1	4976	HP:0007663	Reduced visual acuity
OMIM:165500	OPA1	4976	HP:0000648	Optic atrophy
OMIM:165500	OPA1	4976	HP:0000486	Strabismus
OMIM:165500	OPA1	4976	HP:0000603	Central scotoma
OMIM:165500	OPA1	4976	HP:0000505	Visual impairment
OMIM:165500	OPA1	4976	HP:0001251	Ataxia
OMIM:165500	OPA1	4976	HP:0000006	Autosomal dominant inheritance
OMIM:165500	OPA1	4976	HP:0000552	Tritanomaly
OMIM:165500	OPA1	4976	HP:0000642	Red-green dyschromatopsia
OMIM:165500	OPA1	4976	HP:0003701	Proximal muscle weakness
OMIM:165500	OPA1	4976	HP:0003829	Incomplete penetrance
OMIM:614926	CLPP	8192	HP:0000407	Sensorineural hearing impairment
OMIM:614926	CLPP	8192	HP:0000007	Autosomal recessive inheritance
OMIM:614926	LARS2	23395	HP:0000407	Sensorineural hearing impairment
OMIM:614926	LARS2	23395	HP:0000007	Autosomal recessive inheritance
OMIM:614926	C10ORF2	56652	HP:0000407	Sensorineural hearing impairment
OMIM:614926	C10ORF2	56652	HP:0000007	Autosomal recessive inheritance
OMIM:614926	HARS2	23438	HP:0000407	Sensorineural hearing impairment
OMIM:614926	HARS2	23438	HP:0000007	Autosomal recessive inheritance
OMIM:614926	HSD17B4	3295	HP:0000407	Sensorineural hearing impairment
OMIM:614926	HSD17B4	3295	HP:0000007	Autosomal recessive inheritance
OMIM:616368	AFF4	27125	HP:0002020	Gastroesophageal reflux
OMIM:616368	AFF4	27125	HP:0000085	Horseshoe kidney
OMIM:616368	AFF4	27125	HP:0002714	Downturned corners of mouth
OMIM:616368	AFF4	27125	HP:0001263	Global developmental delay
OMIM:616368	AFF4	27125	HP:0000527	Long eyelashes
OMIM:616368	AFF4	27125	HP:0000648	Optic atrophy
OMIM:616368	AFF4	27125	HP:0003196	Short nose
OMIM:616368	AFF4	27125	HP:0000316	Hypertelorism
OMIM:616368	AFF4	27125	HP:0001513	Obesity
OMIM:616368	AFF4	27125	HP:0000520	Proptosis
OMIM:616368	AFF4	27125	HP:0001249	Intellectual disability
OMIM:616368	AFF4	27125	HP:0002777	Tracheal stenosis
OMIM:616368	AFF4	27125	HP:0001643	Patent ductus arteriosus
OMIM:616368	AFF4	27125	HP:0000280	Coarse facial features
OMIM:616368	AFF4	27125	HP:0004322	Short stature
OMIM:616368	AFF4	27125	HP:0000311	Round face
OMIM:616368	AFF4	27125	HP:0001156	Brachydactyly syndrome
OMIM:616368	AFF4	27125	HP:0001601	Laryngomalacia
OMIM:616368	AFF4	27125	HP:0000365	Hearing impairment
OMIM:616368	AFF4	27125	HP:0000028	Cryptorchidism
OMIM:616368	AFF4	27125	HP:0000076	Vesicoureteral reflux
OMIM:616368	AFF4	27125	HP:0000518	Cataract
OMIM:616368	AFF4	27125	HP:0000574	Thick eyebrow
OMIM:616368	AFF4	27125	HP:0001671	Abnormality of the cardiac septa
OMIM:201200	COL3A1	1281	HP:0002213	Fine hair
OMIM:201200	COL3A1	1281	HP:0004322	Short stature
OMIM:201200	COL3A1	1281	HP:0001382	Joint hypermobility
OMIM:201200	COL3A1	1281	HP:0000444	Convex nasal ridge
OMIM:201200	COL3A1	1281	HP:0000963	Thin skin
OMIM:201200	COL3A1	1281	HP:0002650	Scoliosis
OMIM:201200	COL3A1	1281	HP:0002652	Skeletal dysplasia
OMIM:201200	COL3A1	1281	HP:0100585	Telangiectasia of the skin
OMIM:201200	COL3A1	1281	HP:0007400	Irregular hyperpigmentation
OMIM:201200	COL3A1	1281	HP:0200042	Skin ulcer
OMIM:201200	COL3A1	1281	HP:0000347	Micrognathia
OMIM:201200	COL3A1	1281	HP:0007495	Prematurely aged appearance
OMIM:201200	COL3A1	1281	HP:0100543	Cognitive impairment
OMIM:201200	COL3A1	1281	HP:0004279	Short palm
OMIM:201200	COL3A1	1281	HP:0100578	Lipoatrophy
OMIM:201200	COL3A1	1281	HP:0001773	Short foot
ORPHANET:564	B9D1	27077	HP:0000347	Micrognathia
ORPHANET:564	B9D1	27077	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	B9D1	27077	HP:0002323	Anencephaly
ORPHANET:564	B9D1	27077	HP:0000532	Chorioretinal abnormality
ORPHANET:564	B9D1	27077	HP:0001883	Talipes
ORPHANET:564	B9D1	27077	HP:0000028	Cryptorchidism
ORPHANET:564	B9D1	27077	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	B9D1	27077	HP:0000293	Full cheeks
ORPHANET:564	B9D1	27077	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	B9D1	27077	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	B9D1	27077	HP:0000238	Hydrocephalus
ORPHANET:564	B9D1	27077	HP:0001743	Abnormality of the spleen
ORPHANET:564	B9D1	27077	HP:0006487	Bowing of the long bones
ORPHANET:564	B9D1	27077	HP:0000518	Cataract
ORPHANET:564	B9D1	27077	HP:0000252	Microcephaly
ORPHANET:564	B9D1	27077	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	B9D1	27077	HP:0001305	Dandy-Walker malformation
ORPHANET:564	B9D1	27077	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	B9D1	27077	HP:0000175	Cleft palate
ORPHANET:564	B9D1	27077	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	B9D1	27077	HP:0000316	Hypertelorism
ORPHANET:564	B9D1	27077	HP:0006706	Cystic liver disease
ORPHANET:564	B9D1	27077	HP:0002084	Encephalocele
ORPHANET:564	B9D1	27077	HP:0000647	Sclerocornea
ORPHANET:564	B9D1	27077	HP:0010459	True hermaphroditism
ORPHANET:564	B9D1	27077	HP:0000648	Optic atrophy
ORPHANET:564	B9D1	27077	HP:0001696	Situs inversus totalis
ORPHANET:564	B9D1	27077	HP:0000340	Sloping forehead
ORPHANET:564	B9D1	27077	HP:0000482	Microcornea
ORPHANET:564	B9D1	27077	HP:0000795	Abnormality of the urethra
ORPHANET:564	B9D1	27077	HP:0000457	Depressed nasal ridge
ORPHANET:564	B9D1	27077	HP:0001562	Oligohydramnios
ORPHANET:564	B9D1	27077	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	B9D1	27077	HP:0001360	Holoprosencephaly
ORPHANET:564	RPGRIP1	57096	HP:0000347	Micrognathia
ORPHANET:564	RPGRIP1	57096	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	RPGRIP1	57096	HP:0002323	Anencephaly
ORPHANET:564	RPGRIP1	57096	HP:0000532	Chorioretinal abnormality
ORPHANET:564	RPGRIP1	57096	HP:0001883	Talipes
ORPHANET:564	RPGRIP1	57096	HP:0000028	Cryptorchidism
ORPHANET:564	RPGRIP1	57096	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	RPGRIP1	57096	HP:0000293	Full cheeks
ORPHANET:564	RPGRIP1	57096	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	RPGRIP1	57096	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	RPGRIP1	57096	HP:0000238	Hydrocephalus
ORPHANET:564	RPGRIP1	57096	HP:0001743	Abnormality of the spleen
ORPHANET:564	RPGRIP1	57096	HP:0006487	Bowing of the long bones
ORPHANET:564	RPGRIP1	57096	HP:0000518	Cataract
ORPHANET:564	RPGRIP1	57096	HP:0000252	Microcephaly
ORPHANET:564	RPGRIP1	57096	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	RPGRIP1	57096	HP:0001305	Dandy-Walker malformation
ORPHANET:564	RPGRIP1	57096	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	RPGRIP1	57096	HP:0000175	Cleft palate
ORPHANET:564	RPGRIP1	57096	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	RPGRIP1	57096	HP:0000316	Hypertelorism
ORPHANET:564	RPGRIP1	57096	HP:0006706	Cystic liver disease
ORPHANET:564	RPGRIP1	57096	HP:0002084	Encephalocele
ORPHANET:564	RPGRIP1	57096	HP:0000647	Sclerocornea
ORPHANET:564	RPGRIP1	57096	HP:0010459	True hermaphroditism
ORPHANET:564	RPGRIP1	57096	HP:0000648	Optic atrophy
ORPHANET:564	RPGRIP1	57096	HP:0001696	Situs inversus totalis
ORPHANET:564	RPGRIP1	57096	HP:0000340	Sloping forehead
ORPHANET:564	RPGRIP1	57096	HP:0000482	Microcornea
ORPHANET:564	RPGRIP1	57096	HP:0000795	Abnormality of the urethra
ORPHANET:564	RPGRIP1	57096	HP:0000457	Depressed nasal ridge
ORPHANET:564	RPGRIP1	57096	HP:0001562	Oligohydramnios
ORPHANET:564	RPGRIP1	57096	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	RPGRIP1	57096	HP:0001360	Holoprosencephaly
ORPHANET:564	CC2D2A	57545	HP:0000347	Micrognathia
ORPHANET:564	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	CC2D2A	57545	HP:0002323	Anencephaly
ORPHANET:564	CC2D2A	57545	HP:0000532	Chorioretinal abnormality
ORPHANET:564	CC2D2A	57545	HP:0001883	Talipes
ORPHANET:564	CC2D2A	57545	HP:0000028	Cryptorchidism
ORPHANET:564	CC2D2A	57545	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	CC2D2A	57545	HP:0000293	Full cheeks
ORPHANET:564	CC2D2A	57545	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	CC2D2A	57545	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	CC2D2A	57545	HP:0000238	Hydrocephalus
ORPHANET:564	CC2D2A	57545	HP:0001743	Abnormality of the spleen
ORPHANET:564	CC2D2A	57545	HP:0006487	Bowing of the long bones
ORPHANET:564	CC2D2A	57545	HP:0000518	Cataract
ORPHANET:564	CC2D2A	57545	HP:0000252	Microcephaly
ORPHANET:564	CC2D2A	57545	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	CC2D2A	57545	HP:0001305	Dandy-Walker malformation
ORPHANET:564	CC2D2A	57545	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	CC2D2A	57545	HP:0000175	Cleft palate
ORPHANET:564	CC2D2A	57545	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	CC2D2A	57545	HP:0000316	Hypertelorism
ORPHANET:564	CC2D2A	57545	HP:0006706	Cystic liver disease
ORPHANET:564	CC2D2A	57545	HP:0002084	Encephalocele
ORPHANET:564	CC2D2A	57545	HP:0000647	Sclerocornea
ORPHANET:564	CC2D2A	57545	HP:0010459	True hermaphroditism
ORPHANET:564	CC2D2A	57545	HP:0000648	Optic atrophy
ORPHANET:564	CC2D2A	57545	HP:0001696	Situs inversus totalis
ORPHANET:564	CC2D2A	57545	HP:0000340	Sloping forehead
ORPHANET:564	CC2D2A	57545	HP:0000482	Microcornea
ORPHANET:564	CC2D2A	57545	HP:0000795	Abnormality of the urethra
ORPHANET:564	CC2D2A	57545	HP:0000457	Depressed nasal ridge
ORPHANET:564	CC2D2A	57545	HP:0001562	Oligohydramnios
ORPHANET:564	CC2D2A	57545	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	CC2D2A	57545	HP:0001360	Holoprosencephaly
ORPHANET:564	B9D2	80776	HP:0000347	Micrognathia
ORPHANET:564	B9D2	80776	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	B9D2	80776	HP:0002323	Anencephaly
ORPHANET:564	B9D2	80776	HP:0000532	Chorioretinal abnormality
ORPHANET:564	B9D2	80776	HP:0001883	Talipes
ORPHANET:564	B9D2	80776	HP:0000028	Cryptorchidism
ORPHANET:564	B9D2	80776	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	B9D2	80776	HP:0000293	Full cheeks
ORPHANET:564	B9D2	80776	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	B9D2	80776	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	B9D2	80776	HP:0000238	Hydrocephalus
ORPHANET:564	B9D2	80776	HP:0001743	Abnormality of the spleen
ORPHANET:564	B9D2	80776	HP:0006487	Bowing of the long bones
ORPHANET:564	B9D2	80776	HP:0000518	Cataract
ORPHANET:564	B9D2	80776	HP:0000252	Microcephaly
ORPHANET:564	B9D2	80776	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	B9D2	80776	HP:0001305	Dandy-Walker malformation
ORPHANET:564	B9D2	80776	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	B9D2	80776	HP:0000175	Cleft palate
ORPHANET:564	B9D2	80776	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	B9D2	80776	HP:0000316	Hypertelorism
ORPHANET:564	B9D2	80776	HP:0006706	Cystic liver disease
ORPHANET:564	B9D2	80776	HP:0002084	Encephalocele
ORPHANET:564	B9D2	80776	HP:0000647	Sclerocornea
ORPHANET:564	B9D2	80776	HP:0010459	True hermaphroditism
ORPHANET:564	B9D2	80776	HP:0000648	Optic atrophy
ORPHANET:564	B9D2	80776	HP:0001696	Situs inversus totalis
ORPHANET:564	B9D2	80776	HP:0000340	Sloping forehead
ORPHANET:564	B9D2	80776	HP:0000482	Microcornea
ORPHANET:564	B9D2	80776	HP:0000795	Abnormality of the urethra
ORPHANET:564	B9D2	80776	HP:0000457	Depressed nasal ridge
ORPHANET:564	B9D2	80776	HP:0001562	Oligohydramnios
ORPHANET:564	B9D2	80776	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	B9D2	80776	HP:0001360	Holoprosencephaly
ORPHANET:564	CSPP1	79848	HP:0000347	Micrognathia
ORPHANET:564	CSPP1	79848	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	CSPP1	79848	HP:0002323	Anencephaly
ORPHANET:564	CSPP1	79848	HP:0000532	Chorioretinal abnormality
ORPHANET:564	CSPP1	79848	HP:0001883	Talipes
ORPHANET:564	CSPP1	79848	HP:0000028	Cryptorchidism
ORPHANET:564	CSPP1	79848	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	CSPP1	79848	HP:0000293	Full cheeks
ORPHANET:564	CSPP1	79848	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	CSPP1	79848	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	CSPP1	79848	HP:0000238	Hydrocephalus
ORPHANET:564	CSPP1	79848	HP:0001743	Abnormality of the spleen
ORPHANET:564	CSPP1	79848	HP:0006487	Bowing of the long bones
ORPHANET:564	CSPP1	79848	HP:0000518	Cataract
ORPHANET:564	CSPP1	79848	HP:0000252	Microcephaly
ORPHANET:564	CSPP1	79848	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	CSPP1	79848	HP:0001305	Dandy-Walker malformation
ORPHANET:564	CSPP1	79848	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	CSPP1	79848	HP:0000175	Cleft palate
ORPHANET:564	CSPP1	79848	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	CSPP1	79848	HP:0000316	Hypertelorism
ORPHANET:564	CSPP1	79848	HP:0006706	Cystic liver disease
ORPHANET:564	CSPP1	79848	HP:0002084	Encephalocele
ORPHANET:564	CSPP1	79848	HP:0000647	Sclerocornea
ORPHANET:564	CSPP1	79848	HP:0010459	True hermaphroditism
ORPHANET:564	CSPP1	79848	HP:0000648	Optic atrophy
ORPHANET:564	CSPP1	79848	HP:0001696	Situs inversus totalis
ORPHANET:564	CSPP1	79848	HP:0000340	Sloping forehead
ORPHANET:564	CSPP1	79848	HP:0000482	Microcornea
ORPHANET:564	CSPP1	79848	HP:0000795	Abnormality of the urethra
ORPHANET:564	CSPP1	79848	HP:0000457	Depressed nasal ridge
ORPHANET:564	CSPP1	79848	HP:0001562	Oligohydramnios
ORPHANET:564	CSPP1	79848	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	CSPP1	79848	HP:0001360	Holoprosencephaly
ORPHANET:564	TMEM67	91147	HP:0000347	Micrognathia
ORPHANET:564	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	TMEM67	91147	HP:0002323	Anencephaly
ORPHANET:564	TMEM67	91147	HP:0000532	Chorioretinal abnormality
ORPHANET:564	TMEM67	91147	HP:0001883	Talipes
ORPHANET:564	TMEM67	91147	HP:0000028	Cryptorchidism
ORPHANET:564	TMEM67	91147	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	TMEM67	91147	HP:0000293	Full cheeks
ORPHANET:564	TMEM67	91147	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	TMEM67	91147	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	TMEM67	91147	HP:0000238	Hydrocephalus
ORPHANET:564	TMEM67	91147	HP:0001743	Abnormality of the spleen
ORPHANET:564	TMEM67	91147	HP:0006487	Bowing of the long bones
ORPHANET:564	TMEM67	91147	HP:0000518	Cataract
ORPHANET:564	TMEM67	91147	HP:0000252	Microcephaly
ORPHANET:564	TMEM67	91147	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	TMEM67	91147	HP:0001305	Dandy-Walker malformation
ORPHANET:564	TMEM67	91147	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	TMEM67	91147	HP:0000175	Cleft palate
ORPHANET:564	TMEM67	91147	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	TMEM67	91147	HP:0000316	Hypertelorism
ORPHANET:564	TMEM67	91147	HP:0006706	Cystic liver disease
ORPHANET:564	TMEM67	91147	HP:0002084	Encephalocele
ORPHANET:564	TMEM67	91147	HP:0000647	Sclerocornea
ORPHANET:564	TMEM67	91147	HP:0010459	True hermaphroditism
ORPHANET:564	TMEM67	91147	HP:0000648	Optic atrophy
ORPHANET:564	TMEM67	91147	HP:0001696	Situs inversus totalis
ORPHANET:564	TMEM67	91147	HP:0000340	Sloping forehead
ORPHANET:564	TMEM67	91147	HP:0000482	Microcornea
ORPHANET:564	TMEM67	91147	HP:0000795	Abnormality of the urethra
ORPHANET:564	TMEM67	91147	HP:0000457	Depressed nasal ridge
ORPHANET:564	TMEM67	91147	HP:0001562	Oligohydramnios
ORPHANET:564	TMEM67	91147	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	TMEM67	91147	HP:0001360	Holoprosencephaly
ORPHANET:564	WDPCP	51057	HP:0000347	Micrognathia
ORPHANET:564	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	WDPCP	51057	HP:0002323	Anencephaly
ORPHANET:564	WDPCP	51057	HP:0000532	Chorioretinal abnormality
ORPHANET:564	WDPCP	51057	HP:0001883	Talipes
ORPHANET:564	WDPCP	51057	HP:0000028	Cryptorchidism
ORPHANET:564	WDPCP	51057	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	WDPCP	51057	HP:0000293	Full cheeks
ORPHANET:564	WDPCP	51057	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	WDPCP	51057	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	WDPCP	51057	HP:0000238	Hydrocephalus
ORPHANET:564	WDPCP	51057	HP:0001743	Abnormality of the spleen
ORPHANET:564	WDPCP	51057	HP:0006487	Bowing of the long bones
ORPHANET:564	WDPCP	51057	HP:0000518	Cataract
ORPHANET:564	WDPCP	51057	HP:0000252	Microcephaly
ORPHANET:564	WDPCP	51057	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	WDPCP	51057	HP:0001305	Dandy-Walker malformation
ORPHANET:564	WDPCP	51057	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	WDPCP	51057	HP:0000175	Cleft palate
ORPHANET:564	WDPCP	51057	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	WDPCP	51057	HP:0000316	Hypertelorism
ORPHANET:564	WDPCP	51057	HP:0006706	Cystic liver disease
ORPHANET:564	WDPCP	51057	HP:0002084	Encephalocele
ORPHANET:564	WDPCP	51057	HP:0000647	Sclerocornea
ORPHANET:564	WDPCP	51057	HP:0010459	True hermaphroditism
ORPHANET:564	WDPCP	51057	HP:0000648	Optic atrophy
ORPHANET:564	WDPCP	51057	HP:0001696	Situs inversus totalis
ORPHANET:564	WDPCP	51057	HP:0000340	Sloping forehead
ORPHANET:564	WDPCP	51057	HP:0000482	Microcornea
ORPHANET:564	WDPCP	51057	HP:0000795	Abnormality of the urethra
ORPHANET:564	WDPCP	51057	HP:0000457	Depressed nasal ridge
ORPHANET:564	WDPCP	51057	HP:0001562	Oligohydramnios
ORPHANET:564	WDPCP	51057	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	WDPCP	51057	HP:0001360	Holoprosencephaly
ORPHANET:564	MKS1	54903	HP:0000347	Micrognathia
ORPHANET:564	MKS1	54903	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	MKS1	54903	HP:0002323	Anencephaly
ORPHANET:564	MKS1	54903	HP:0000532	Chorioretinal abnormality
ORPHANET:564	MKS1	54903	HP:0001883	Talipes
ORPHANET:564	MKS1	54903	HP:0000028	Cryptorchidism
ORPHANET:564	MKS1	54903	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	MKS1	54903	HP:0000293	Full cheeks
ORPHANET:564	MKS1	54903	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	MKS1	54903	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	MKS1	54903	HP:0000238	Hydrocephalus
ORPHANET:564	MKS1	54903	HP:0001743	Abnormality of the spleen
ORPHANET:564	MKS1	54903	HP:0006487	Bowing of the long bones
ORPHANET:564	MKS1	54903	HP:0000518	Cataract
ORPHANET:564	MKS1	54903	HP:0000252	Microcephaly
ORPHANET:564	MKS1	54903	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	MKS1	54903	HP:0001305	Dandy-Walker malformation
ORPHANET:564	MKS1	54903	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	MKS1	54903	HP:0000175	Cleft palate
ORPHANET:564	MKS1	54903	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	MKS1	54903	HP:0000316	Hypertelorism
ORPHANET:564	MKS1	54903	HP:0006706	Cystic liver disease
ORPHANET:564	MKS1	54903	HP:0002084	Encephalocele
ORPHANET:564	MKS1	54903	HP:0000647	Sclerocornea
ORPHANET:564	MKS1	54903	HP:0010459	True hermaphroditism
ORPHANET:564	MKS1	54903	HP:0000648	Optic atrophy
ORPHANET:564	MKS1	54903	HP:0001696	Situs inversus totalis
ORPHANET:564	MKS1	54903	HP:0000340	Sloping forehead
ORPHANET:564	MKS1	54903	HP:0000482	Microcornea
ORPHANET:564	MKS1	54903	HP:0000795	Abnormality of the urethra
ORPHANET:564	MKS1	54903	HP:0000457	Depressed nasal ridge
ORPHANET:564	MKS1	54903	HP:0001562	Oligohydramnios
ORPHANET:564	MKS1	54903	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	MKS1	54903	HP:0001360	Holoprosencephaly
ORPHANET:564	CEP290	80184	HP:0000347	Micrognathia
ORPHANET:564	CEP290	80184	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	CEP290	80184	HP:0002323	Anencephaly
ORPHANET:564	CEP290	80184	HP:0000532	Chorioretinal abnormality
ORPHANET:564	CEP290	80184	HP:0001883	Talipes
ORPHANET:564	CEP290	80184	HP:0000028	Cryptorchidism
ORPHANET:564	CEP290	80184	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	CEP290	80184	HP:0000293	Full cheeks
ORPHANET:564	CEP290	80184	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	CEP290	80184	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	CEP290	80184	HP:0000238	Hydrocephalus
ORPHANET:564	CEP290	80184	HP:0001743	Abnormality of the spleen
ORPHANET:564	CEP290	80184	HP:0006487	Bowing of the long bones
ORPHANET:564	CEP290	80184	HP:0000518	Cataract
ORPHANET:564	CEP290	80184	HP:0000252	Microcephaly
ORPHANET:564	CEP290	80184	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	CEP290	80184	HP:0001305	Dandy-Walker malformation
ORPHANET:564	CEP290	80184	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	CEP290	80184	HP:0000175	Cleft palate
ORPHANET:564	CEP290	80184	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	CEP290	80184	HP:0000316	Hypertelorism
ORPHANET:564	CEP290	80184	HP:0006706	Cystic liver disease
ORPHANET:564	CEP290	80184	HP:0002084	Encephalocele
ORPHANET:564	CEP290	80184	HP:0000647	Sclerocornea
ORPHANET:564	CEP290	80184	HP:0010459	True hermaphroditism
ORPHANET:564	CEP290	80184	HP:0000648	Optic atrophy
ORPHANET:564	CEP290	80184	HP:0001696	Situs inversus totalis
ORPHANET:564	CEP290	80184	HP:0000340	Sloping forehead
ORPHANET:564	CEP290	80184	HP:0000482	Microcornea
ORPHANET:564	CEP290	80184	HP:0000795	Abnormality of the urethra
ORPHANET:564	CEP290	80184	HP:0000457	Depressed nasal ridge
ORPHANET:564	CEP290	80184	HP:0001562	Oligohydramnios
ORPHANET:564	CEP290	80184	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	CEP290	80184	HP:0001360	Holoprosencephaly
ORPHANET:564	RPGRIP1L	23322	HP:0000347	Micrognathia
ORPHANET:564	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	RPGRIP1L	23322	HP:0002323	Anencephaly
ORPHANET:564	RPGRIP1L	23322	HP:0000532	Chorioretinal abnormality
ORPHANET:564	RPGRIP1L	23322	HP:0001883	Talipes
ORPHANET:564	RPGRIP1L	23322	HP:0000028	Cryptorchidism
ORPHANET:564	RPGRIP1L	23322	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	RPGRIP1L	23322	HP:0000293	Full cheeks
ORPHANET:564	RPGRIP1L	23322	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	RPGRIP1L	23322	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	RPGRIP1L	23322	HP:0000238	Hydrocephalus
ORPHANET:564	RPGRIP1L	23322	HP:0001743	Abnormality of the spleen
ORPHANET:564	RPGRIP1L	23322	HP:0006487	Bowing of the long bones
ORPHANET:564	RPGRIP1L	23322	HP:0000518	Cataract
ORPHANET:564	RPGRIP1L	23322	HP:0000252	Microcephaly
ORPHANET:564	RPGRIP1L	23322	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	RPGRIP1L	23322	HP:0001305	Dandy-Walker malformation
ORPHANET:564	RPGRIP1L	23322	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	RPGRIP1L	23322	HP:0000175	Cleft palate
ORPHANET:564	RPGRIP1L	23322	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	RPGRIP1L	23322	HP:0000316	Hypertelorism
ORPHANET:564	RPGRIP1L	23322	HP:0006706	Cystic liver disease
ORPHANET:564	RPGRIP1L	23322	HP:0002084	Encephalocele
ORPHANET:564	RPGRIP1L	23322	HP:0000647	Sclerocornea
ORPHANET:564	RPGRIP1L	23322	HP:0010459	True hermaphroditism
ORPHANET:564	RPGRIP1L	23322	HP:0000648	Optic atrophy
ORPHANET:564	RPGRIP1L	23322	HP:0001696	Situs inversus totalis
ORPHANET:564	RPGRIP1L	23322	HP:0000340	Sloping forehead
ORPHANET:564	RPGRIP1L	23322	HP:0000482	Microcornea
ORPHANET:564	RPGRIP1L	23322	HP:0000795	Abnormality of the urethra
ORPHANET:564	RPGRIP1L	23322	HP:0000457	Depressed nasal ridge
ORPHANET:564	RPGRIP1L	23322	HP:0001562	Oligohydramnios
ORPHANET:564	RPGRIP1L	23322	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	RPGRIP1L	23322	HP:0001360	Holoprosencephaly
ORPHANET:564	TCTN2	79867	HP:0000347	Micrognathia
ORPHANET:564	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	TCTN2	79867	HP:0002323	Anencephaly
ORPHANET:564	TCTN2	79867	HP:0000532	Chorioretinal abnormality
ORPHANET:564	TCTN2	79867	HP:0001883	Talipes
ORPHANET:564	TCTN2	79867	HP:0000028	Cryptorchidism
ORPHANET:564	TCTN2	79867	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	TCTN2	79867	HP:0000293	Full cheeks
ORPHANET:564	TCTN2	79867	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	TCTN2	79867	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	TCTN2	79867	HP:0000238	Hydrocephalus
ORPHANET:564	TCTN2	79867	HP:0001743	Abnormality of the spleen
ORPHANET:564	TCTN2	79867	HP:0006487	Bowing of the long bones
ORPHANET:564	TCTN2	79867	HP:0000518	Cataract
ORPHANET:564	TCTN2	79867	HP:0000252	Microcephaly
ORPHANET:564	TCTN2	79867	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	TCTN2	79867	HP:0001305	Dandy-Walker malformation
ORPHANET:564	TCTN2	79867	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	TCTN2	79867	HP:0000175	Cleft palate
ORPHANET:564	TCTN2	79867	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	TCTN2	79867	HP:0000316	Hypertelorism
ORPHANET:564	TCTN2	79867	HP:0006706	Cystic liver disease
ORPHANET:564	TCTN2	79867	HP:0002084	Encephalocele
ORPHANET:564	TCTN2	79867	HP:0000647	Sclerocornea
ORPHANET:564	TCTN2	79867	HP:0010459	True hermaphroditism
ORPHANET:564	TCTN2	79867	HP:0000648	Optic atrophy
ORPHANET:564	TCTN2	79867	HP:0001696	Situs inversus totalis
ORPHANET:564	TCTN2	79867	HP:0000340	Sloping forehead
ORPHANET:564	TCTN2	79867	HP:0000482	Microcornea
ORPHANET:564	TCTN2	79867	HP:0000795	Abnormality of the urethra
ORPHANET:564	TCTN2	79867	HP:0000457	Depressed nasal ridge
ORPHANET:564	TCTN2	79867	HP:0001562	Oligohydramnios
ORPHANET:564	TCTN2	79867	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	TCTN2	79867	HP:0001360	Holoprosencephaly
ORPHANET:564	TMEM216	51259	HP:0000347	Micrognathia
ORPHANET:564	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	TMEM216	51259	HP:0002323	Anencephaly
ORPHANET:564	TMEM216	51259	HP:0000532	Chorioretinal abnormality
ORPHANET:564	TMEM216	51259	HP:0001883	Talipes
ORPHANET:564	TMEM216	51259	HP:0000028	Cryptorchidism
ORPHANET:564	TMEM216	51259	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	TMEM216	51259	HP:0000293	Full cheeks
ORPHANET:564	TMEM216	51259	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	TMEM216	51259	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	TMEM216	51259	HP:0000238	Hydrocephalus
ORPHANET:564	TMEM216	51259	HP:0001743	Abnormality of the spleen
ORPHANET:564	TMEM216	51259	HP:0006487	Bowing of the long bones
ORPHANET:564	TMEM216	51259	HP:0000518	Cataract
ORPHANET:564	TMEM216	51259	HP:0000252	Microcephaly
ORPHANET:564	TMEM216	51259	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	TMEM216	51259	HP:0001305	Dandy-Walker malformation
ORPHANET:564	TMEM216	51259	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	TMEM216	51259	HP:0000175	Cleft palate
ORPHANET:564	TMEM216	51259	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	TMEM216	51259	HP:0000316	Hypertelorism
ORPHANET:564	TMEM216	51259	HP:0006706	Cystic liver disease
ORPHANET:564	TMEM216	51259	HP:0002084	Encephalocele
ORPHANET:564	TMEM216	51259	HP:0000647	Sclerocornea
ORPHANET:564	TMEM216	51259	HP:0010459	True hermaphroditism
ORPHANET:564	TMEM216	51259	HP:0000648	Optic atrophy
ORPHANET:564	TMEM216	51259	HP:0001696	Situs inversus totalis
ORPHANET:564	TMEM216	51259	HP:0000340	Sloping forehead
ORPHANET:564	TMEM216	51259	HP:0000482	Microcornea
ORPHANET:564	TMEM216	51259	HP:0000795	Abnormality of the urethra
ORPHANET:564	TMEM216	51259	HP:0000457	Depressed nasal ridge
ORPHANET:564	TMEM216	51259	HP:0001562	Oligohydramnios
ORPHANET:564	TMEM216	51259	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	TMEM216	51259	HP:0001360	Holoprosencephaly
ORPHANET:564	TMEM231	79583	HP:0000347	Micrognathia
ORPHANET:564	TMEM231	79583	HP:0001162	Postaxial hand polydactyly
ORPHANET:564	TMEM231	79583	HP:0002323	Anencephaly
ORPHANET:564	TMEM231	79583	HP:0000532	Chorioretinal abnormality
ORPHANET:564	TMEM231	79583	HP:0001883	Talipes
ORPHANET:564	TMEM231	79583	HP:0000028	Cryptorchidism
ORPHANET:564	TMEM231	79583	HP:0010295	Aplasia/Hypoplasia of the tongue
ORPHANET:564	TMEM231	79583	HP:0000293	Full cheeks
ORPHANET:564	TMEM231	79583	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:564	TMEM231	79583	HP:0001177	Preaxial hand polydactyly
ORPHANET:564	TMEM231	79583	HP:0000238	Hydrocephalus
ORPHANET:564	TMEM231	79583	HP:0001743	Abnormality of the spleen
ORPHANET:564	TMEM231	79583	HP:0006487	Bowing of the long bones
ORPHANET:564	TMEM231	79583	HP:0000518	Cataract
ORPHANET:564	TMEM231	79583	HP:0000252	Microcephaly
ORPHANET:564	TMEM231	79583	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:564	TMEM231	79583	HP:0001305	Dandy-Walker malformation
ORPHANET:564	TMEM231	79583	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:564	TMEM231	79583	HP:0000175	Cleft palate
ORPHANET:564	TMEM231	79583	HP:0000003	Multicystic kidney dysplasia
ORPHANET:564	TMEM231	79583	HP:0000316	Hypertelorism
ORPHANET:564	TMEM231	79583	HP:0006706	Cystic liver disease
ORPHANET:564	TMEM231	79583	HP:0002084	Encephalocele
ORPHANET:564	TMEM231	79583	HP:0000647	Sclerocornea
ORPHANET:564	TMEM231	79583	HP:0010459	True hermaphroditism
ORPHANET:564	TMEM231	79583	HP:0000648	Optic atrophy
ORPHANET:564	TMEM231	79583	HP:0001696	Situs inversus totalis
ORPHANET:564	TMEM231	79583	HP:0000340	Sloping forehead
ORPHANET:564	TMEM231	79583	HP:0000482	Microcornea
ORPHANET:564	TMEM231	79583	HP:0000795	Abnormality of the urethra
ORPHANET:564	TMEM231	79583	HP:0000457	Depressed nasal ridge
ORPHANET:564	TMEM231	79583	HP:0001562	Oligohydramnios
ORPHANET:564	TMEM231	79583	HP:0000037	Male pseudohermaphroditism
ORPHANET:564	TMEM231	79583	HP:0001360	Holoprosencephaly
OMIM:613824	NEK8	284086	HP:0003774	Stage 5 chronic kidney disease
OMIM:613824	NEK8	284086	HP:0000007	Autosomal recessive inheritance
OMIM:613824	NEK8	284086	HP:0000090	Nephronophthisis
OMIM:613824	NEK8	284086	HP:0004734	Renal cortical microcysts
ORPHANET:35099	FGFR3	2261	HP:0000337	Broad forehead
ORPHANET:35099	FGFR3	2261	HP:0000365	Hearing impairment
ORPHANET:35099	FGFR3	2261	HP:0000520	Proptosis
ORPHANET:35099	FGFR3	2261	HP:0002648	Abnormality of calvarial morphology
ORPHANET:35099	FGFR3	2261	HP:0001156	Brachydactyly syndrome
ORPHANET:35099	FGFR3	2261	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:35099	FGFR3	2261	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:35099	FGFR3	2261	HP:0000272	Malar flattening
ORPHANET:35099	FGFR3	2261	HP:0000316	Hypertelorism
ORPHANET:35099	FGFR3	2261	HP:0100543	Cognitive impairment
ORPHANET:35099	ZIC1	7545	HP:0000337	Broad forehead
ORPHANET:35099	ZIC1	7545	HP:0000365	Hearing impairment
ORPHANET:35099	ZIC1	7545	HP:0000520	Proptosis
ORPHANET:35099	ZIC1	7545	HP:0002648	Abnormality of calvarial morphology
ORPHANET:35099	ZIC1	7545	HP:0001156	Brachydactyly syndrome
ORPHANET:35099	ZIC1	7545	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:35099	ZIC1	7545	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:35099	ZIC1	7545	HP:0000272	Malar flattening
ORPHANET:35099	ZIC1	7545	HP:0000316	Hypertelorism
ORPHANET:35099	ZIC1	7545	HP:0100543	Cognitive impairment
ORPHANET:35099	TCF12	6938	HP:0000337	Broad forehead
ORPHANET:35099	TCF12	6938	HP:0000365	Hearing impairment
ORPHANET:35099	TCF12	6938	HP:0000520	Proptosis
ORPHANET:35099	TCF12	6938	HP:0002648	Abnormality of calvarial morphology
ORPHANET:35099	TCF12	6938	HP:0001156	Brachydactyly syndrome
ORPHANET:35099	TCF12	6938	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:35099	TCF12	6938	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:35099	TCF12	6938	HP:0000272	Malar flattening
ORPHANET:35099	TCF12	6938	HP:0000316	Hypertelorism
ORPHANET:35099	TCF12	6938	HP:0100543	Cognitive impairment
ORPHANET:35099	TWIST1	7291	HP:0000337	Broad forehead
ORPHANET:35099	TWIST1	7291	HP:0000365	Hearing impairment
ORPHANET:35099	TWIST1	7291	HP:0000520	Proptosis
ORPHANET:35099	TWIST1	7291	HP:0002648	Abnormality of calvarial morphology
ORPHANET:35099	TWIST1	7291	HP:0001156	Brachydactyly syndrome
ORPHANET:35099	TWIST1	7291	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:35099	TWIST1	7291	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:35099	TWIST1	7291	HP:0000272	Malar flattening
ORPHANET:35099	TWIST1	7291	HP:0000316	Hypertelorism
ORPHANET:35099	TWIST1	7291	HP:0100543	Cognitive impairment
OMIM:607600	COL7A1	1294	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:607600	COL7A1	1294	HP:0001597	Abnormality of the nail
OMIM:607600	COL7A1	1294	HP:0200042	Skin ulcer
OMIM:610896	SIX5	147912	HP:0000384	Preauricular skin tag
OMIM:610896	SIX5	147912	HP:0000083	Renal insufficiency
OMIM:610896	SIX5	147912	HP:0000006	Autosomal dominant inheritance
OMIM:610896	SIX5	147912	HP:0000110	Renal dysplasia
OMIM:610896	SIX5	147912	HP:0000365	Hearing impairment
OMIM:610896	EYA1	2138	HP:0000384	Preauricular skin tag
OMIM:610896	EYA1	2138	HP:0000083	Renal insufficiency
OMIM:610896	EYA1	2138	HP:0000006	Autosomal dominant inheritance
OMIM:610896	EYA1	2138	HP:0000110	Renal dysplasia
OMIM:610896	EYA1	2138	HP:0000365	Hearing impairment
OMIM:610896	SIX1	6495	HP:0000384	Preauricular skin tag
OMIM:610896	SIX1	6495	HP:0000083	Renal insufficiency
OMIM:610896	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:610896	SIX1	6495	HP:0000110	Renal dysplasia
OMIM:610896	SIX1	6495	HP:0000365	Hearing impairment
OMIM:223900	IKBKAP	8518	HP:0000224	Decreased taste sensation
OMIM:223900	IKBKAP	8518	HP:0000708	Behavioral abnormality
OMIM:223900	IKBKAP	8518	HP:0002650	Scoliosis
OMIM:223900	IKBKAP	8518	HP:0000083	Renal insufficiency
OMIM:223900	IKBKAP	8518	HP:0001510	Growth delay
OMIM:223900	IKBKAP	8518	HP:0000975	Hyperhidrosis
OMIM:223900	IKBKAP	8518	HP:0002311	Incoordination
OMIM:223900	IKBKAP	8518	HP:0001063	Acrocyanosis
OMIM:223900	IKBKAP	8518	HP:0001069	Episodic hyperhidrosis
OMIM:223900	IKBKAP	8518	HP:0003138	Increased blood urea nitrogen (BUN)
OMIM:223900	IKBKAP	8518	HP:0002797	Osteolysis
OMIM:223900	IKBKAP	8518	HP:0001250	Seizures
OMIM:223900	IKBKAP	8518	HP:0002020	Gastroesophageal reflux
OMIM:223900	IKBKAP	8518	HP:0001100	Heterochromia iridis
OMIM:223900	IKBKAP	8518	HP:0002013	Vomiting
OMIM:223900	IKBKAP	8518	HP:0001252	Muscular hypotonia
OMIM:223900	IKBKAP	8518	HP:0003577	Congenital onset
OMIM:223900	IKBKAP	8518	HP:0002014	Diarrhea
OMIM:223900	IKBKAP	8518	HP:0001315	Reduced tendon reflexes
OMIM:223900	IKBKAP	8518	HP:0001288	Gait disturbance
OMIM:223900	IKBKAP	8518	HP:0011675	Arrhythmia
OMIM:223900	IKBKAP	8518	HP:0003457	EMG abnormality
OMIM:223900	IKBKAP	8518	HP:0002757	Recurrent fractures
OMIM:223900	IKBKAP	8518	HP:0000007	Autosomal recessive inheritance
OMIM:223900	IKBKAP	8518	HP:0000822	Hypertension
OMIM:223900	IKBKAP	8518	HP:0000615	Abnormality of the pupil
OMIM:223900	IKBKAP	8518	HP:0008872	Feeding difficulties in infancy
OMIM:223900	IKBKAP	8518	HP:0003676	Progressive
OMIM:223900	IKBKAP	8518	HP:0000966	Hypohidrosis
OMIM:223900	IKBKAP	8518	HP:0000545	Myopia
OMIM:223900	IKBKAP	8518	HP:0000096	Glomerulosclerosis
OMIM:223900	IKBKAP	8518	HP:0000648	Optic atrophy
OMIM:223900	IKBKAP	8518	HP:0002205	Recurrent respiratory infections
OMIM:223900	IKBKAP	8518	HP:0001265	Hyporeflexia
OMIM:223900	IKBKAP	8518	HP:0007759	Opacification of the corneal stroma
OMIM:223900	IKBKAP	8518	HP:0012211	Abnormal renal physiology
OMIM:223900	IKBKAP	8518	HP:0000712	Emotional lability
OMIM:223900	IKBKAP	8518	HP:0001649	Tachycardia
OMIM:223900	IKBKAP	8518	HP:0002019	Constipation
OMIM:223900	IKBKAP	8518	HP:0003259	Elevated serum creatinine
OMIM:223900	IKBKAP	8518	HP:0007328	Impaired pain sensation
OMIM:608931	MUSK	4593	HP:0002015	Dysphagia
OMIM:608931	MUSK	4593	HP:0011968	Feeding difficulties
OMIM:608931	MUSK	4593	HP:0000276	Long face
OMIM:608931	MUSK	4593	HP:0000303	Mandibular prognathia
OMIM:608931	MUSK	4593	HP:0001558	Decreased fetal movement
OMIM:608931	MUSK	4593	HP:0000007	Autosomal recessive inheritance
OMIM:608931	MUSK	4593	HP:0000486	Strabismus
OMIM:608931	MUSK	4593	HP:0002715	Abnormality of the immune system
OMIM:608931	MUSK	4593	HP:0003394	Muscle cramps
OMIM:608931	MUSK	4593	HP:0000218	High palate
OMIM:608931	MUSK	4593	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	MUSK	4593	HP:0001270	Motor delay
OMIM:608931	MUSK	4593	HP:0003680	Nonprogressive
OMIM:608931	MUSK	4593	HP:0001260	Dysarthria
OMIM:608931	MUSK	4593	HP:0001252	Muscular hypotonia
OMIM:608931	MUSK	4593	HP:0010628	Facial palsy
OMIM:608931	MUSK	4593	HP:0000508	Ptosis
OMIM:608931	MUSK	4593	HP:0003593	Infantile onset
OMIM:608931	MUSK	4593	HP:0000597	Ophthalmoparesis
OMIM:608931	MUSK	4593	HP:0003391	Gowers sign
OMIM:608931	MUSK	4593	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	MUSK	4593	HP:0003202	Skeletal muscle atrophy
OMIM:608931	MUSK	4593	HP:0000689	Dental malocclusion
OMIM:608931	MUSK	4593	HP:0003828	Variable expressivity
OMIM:608931	CHRNB1	1140	HP:0002015	Dysphagia
OMIM:608931	CHRNB1	1140	HP:0011968	Feeding difficulties
OMIM:608931	CHRNB1	1140	HP:0000276	Long face
OMIM:608931	CHRNB1	1140	HP:0000303	Mandibular prognathia
OMIM:608931	CHRNB1	1140	HP:0001558	Decreased fetal movement
OMIM:608931	CHRNB1	1140	HP:0000007	Autosomal recessive inheritance
OMIM:608931	CHRNB1	1140	HP:0000486	Strabismus
OMIM:608931	CHRNB1	1140	HP:0002715	Abnormality of the immune system
OMIM:608931	CHRNB1	1140	HP:0003394	Muscle cramps
OMIM:608931	CHRNB1	1140	HP:0000218	High palate
OMIM:608931	CHRNB1	1140	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	CHRNB1	1140	HP:0001270	Motor delay
OMIM:608931	CHRNB1	1140	HP:0003680	Nonprogressive
OMIM:608931	CHRNB1	1140	HP:0001260	Dysarthria
OMIM:608931	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:608931	CHRNB1	1140	HP:0010628	Facial palsy
OMIM:608931	CHRNB1	1140	HP:0000508	Ptosis
OMIM:608931	CHRNB1	1140	HP:0003593	Infantile onset
OMIM:608931	CHRNB1	1140	HP:0000597	Ophthalmoparesis
OMIM:608931	CHRNB1	1140	HP:0003391	Gowers sign
OMIM:608931	CHRNB1	1140	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	CHRNB1	1140	HP:0003202	Skeletal muscle atrophy
OMIM:608931	CHRNB1	1140	HP:0000689	Dental malocclusion
OMIM:608931	CHRNB1	1140	HP:0003828	Variable expressivity
OMIM:608931	DOK7	285489	HP:0002015	Dysphagia
OMIM:608931	DOK7	285489	HP:0011968	Feeding difficulties
OMIM:608931	DOK7	285489	HP:0000276	Long face
OMIM:608931	DOK7	285489	HP:0000303	Mandibular prognathia
OMIM:608931	DOK7	285489	HP:0001558	Decreased fetal movement
OMIM:608931	DOK7	285489	HP:0000007	Autosomal recessive inheritance
OMIM:608931	DOK7	285489	HP:0000486	Strabismus
OMIM:608931	DOK7	285489	HP:0002715	Abnormality of the immune system
OMIM:608931	DOK7	285489	HP:0003394	Muscle cramps
OMIM:608931	DOK7	285489	HP:0000218	High palate
OMIM:608931	DOK7	285489	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	DOK7	285489	HP:0001270	Motor delay
OMIM:608931	DOK7	285489	HP:0003680	Nonprogressive
OMIM:608931	DOK7	285489	HP:0001260	Dysarthria
OMIM:608931	DOK7	285489	HP:0001252	Muscular hypotonia
OMIM:608931	DOK7	285489	HP:0010628	Facial palsy
OMIM:608931	DOK7	285489	HP:0000508	Ptosis
OMIM:608931	DOK7	285489	HP:0003593	Infantile onset
OMIM:608931	DOK7	285489	HP:0000597	Ophthalmoparesis
OMIM:608931	DOK7	285489	HP:0003391	Gowers sign
OMIM:608931	DOK7	285489	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	DOK7	285489	HP:0003202	Skeletal muscle atrophy
OMIM:608931	DOK7	285489	HP:0000689	Dental malocclusion
OMIM:608931	DOK7	285489	HP:0003828	Variable expressivity
OMIM:608931	LRP4	4038	HP:0002015	Dysphagia
OMIM:608931	LRP4	4038	HP:0011968	Feeding difficulties
OMIM:608931	LRP4	4038	HP:0000276	Long face
OMIM:608931	LRP4	4038	HP:0000303	Mandibular prognathia
OMIM:608931	LRP4	4038	HP:0001558	Decreased fetal movement
OMIM:608931	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:608931	LRP4	4038	HP:0000486	Strabismus
OMIM:608931	LRP4	4038	HP:0002715	Abnormality of the immune system
OMIM:608931	LRP4	4038	HP:0003394	Muscle cramps
OMIM:608931	LRP4	4038	HP:0000218	High palate
OMIM:608931	LRP4	4038	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	LRP4	4038	HP:0001270	Motor delay
OMIM:608931	LRP4	4038	HP:0003680	Nonprogressive
OMIM:608931	LRP4	4038	HP:0001260	Dysarthria
OMIM:608931	LRP4	4038	HP:0001252	Muscular hypotonia
OMIM:608931	LRP4	4038	HP:0010628	Facial palsy
OMIM:608931	LRP4	4038	HP:0000508	Ptosis
OMIM:608931	LRP4	4038	HP:0003593	Infantile onset
OMIM:608931	LRP4	4038	HP:0000597	Ophthalmoparesis
OMIM:608931	LRP4	4038	HP:0003391	Gowers sign
OMIM:608931	LRP4	4038	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	LRP4	4038	HP:0003202	Skeletal muscle atrophy
OMIM:608931	LRP4	4038	HP:0000689	Dental malocclusion
OMIM:608931	LRP4	4038	HP:0003828	Variable expressivity
OMIM:608931	CHRND	1144	HP:0002015	Dysphagia
OMIM:608931	CHRND	1144	HP:0011968	Feeding difficulties
OMIM:608931	CHRND	1144	HP:0000276	Long face
OMIM:608931	CHRND	1144	HP:0000303	Mandibular prognathia
OMIM:608931	CHRND	1144	HP:0001558	Decreased fetal movement
OMIM:608931	CHRND	1144	HP:0000007	Autosomal recessive inheritance
OMIM:608931	CHRND	1144	HP:0000486	Strabismus
OMIM:608931	CHRND	1144	HP:0002715	Abnormality of the immune system
OMIM:608931	CHRND	1144	HP:0003394	Muscle cramps
OMIM:608931	CHRND	1144	HP:0000218	High palate
OMIM:608931	CHRND	1144	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	CHRND	1144	HP:0001270	Motor delay
OMIM:608931	CHRND	1144	HP:0003680	Nonprogressive
OMIM:608931	CHRND	1144	HP:0001260	Dysarthria
OMIM:608931	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:608931	CHRND	1144	HP:0010628	Facial palsy
OMIM:608931	CHRND	1144	HP:0000508	Ptosis
OMIM:608931	CHRND	1144	HP:0003593	Infantile onset
OMIM:608931	CHRND	1144	HP:0000597	Ophthalmoparesis
OMIM:608931	CHRND	1144	HP:0003391	Gowers sign
OMIM:608931	CHRND	1144	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	CHRND	1144	HP:0003202	Skeletal muscle atrophy
OMIM:608931	CHRND	1144	HP:0000689	Dental malocclusion
OMIM:608931	CHRND	1144	HP:0003828	Variable expressivity
OMIM:608931	CHRNE	1145	HP:0002015	Dysphagia
OMIM:608931	CHRNE	1145	HP:0011968	Feeding difficulties
OMIM:608931	CHRNE	1145	HP:0000276	Long face
OMIM:608931	CHRNE	1145	HP:0000303	Mandibular prognathia
OMIM:608931	CHRNE	1145	HP:0001558	Decreased fetal movement
OMIM:608931	CHRNE	1145	HP:0000007	Autosomal recessive inheritance
OMIM:608931	CHRNE	1145	HP:0000486	Strabismus
OMIM:608931	CHRNE	1145	HP:0002715	Abnormality of the immune system
OMIM:608931	CHRNE	1145	HP:0003394	Muscle cramps
OMIM:608931	CHRNE	1145	HP:0000218	High palate
OMIM:608931	CHRNE	1145	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	CHRNE	1145	HP:0001270	Motor delay
OMIM:608931	CHRNE	1145	HP:0003680	Nonprogressive
OMIM:608931	CHRNE	1145	HP:0001260	Dysarthria
OMIM:608931	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:608931	CHRNE	1145	HP:0010628	Facial palsy
OMIM:608931	CHRNE	1145	HP:0000508	Ptosis
OMIM:608931	CHRNE	1145	HP:0003593	Infantile onset
OMIM:608931	CHRNE	1145	HP:0000597	Ophthalmoparesis
OMIM:608931	CHRNE	1145	HP:0003391	Gowers sign
OMIM:608931	CHRNE	1145	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	CHRNE	1145	HP:0003202	Skeletal muscle atrophy
OMIM:608931	CHRNE	1145	HP:0000689	Dental malocclusion
OMIM:608931	CHRNE	1145	HP:0003828	Variable expressivity
OMIM:608931	RAPSN	5913	HP:0002015	Dysphagia
OMIM:608931	RAPSN	5913	HP:0011968	Feeding difficulties
OMIM:608931	RAPSN	5913	HP:0000276	Long face
OMIM:608931	RAPSN	5913	HP:0000303	Mandibular prognathia
OMIM:608931	RAPSN	5913	HP:0001558	Decreased fetal movement
OMIM:608931	RAPSN	5913	HP:0000007	Autosomal recessive inheritance
OMIM:608931	RAPSN	5913	HP:0000486	Strabismus
OMIM:608931	RAPSN	5913	HP:0002715	Abnormality of the immune system
OMIM:608931	RAPSN	5913	HP:0003394	Muscle cramps
OMIM:608931	RAPSN	5913	HP:0000218	High palate
OMIM:608931	RAPSN	5913	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	RAPSN	5913	HP:0001270	Motor delay
OMIM:608931	RAPSN	5913	HP:0003680	Nonprogressive
OMIM:608931	RAPSN	5913	HP:0001260	Dysarthria
OMIM:608931	RAPSN	5913	HP:0001252	Muscular hypotonia
OMIM:608931	RAPSN	5913	HP:0010628	Facial palsy
OMIM:608931	RAPSN	5913	HP:0000508	Ptosis
OMIM:608931	RAPSN	5913	HP:0003593	Infantile onset
OMIM:608931	RAPSN	5913	HP:0000597	Ophthalmoparesis
OMIM:608931	RAPSN	5913	HP:0003391	Gowers sign
OMIM:608931	RAPSN	5913	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	RAPSN	5913	HP:0003202	Skeletal muscle atrophy
OMIM:608931	RAPSN	5913	HP:0000689	Dental malocclusion
OMIM:608931	RAPSN	5913	HP:0003828	Variable expressivity
OMIM:608931	SCN4A	6329	HP:0002015	Dysphagia
OMIM:608931	SCN4A	6329	HP:0011968	Feeding difficulties
OMIM:608931	SCN4A	6329	HP:0000276	Long face
OMIM:608931	SCN4A	6329	HP:0000303	Mandibular prognathia
OMIM:608931	SCN4A	6329	HP:0001558	Decreased fetal movement
OMIM:608931	SCN4A	6329	HP:0000007	Autosomal recessive inheritance
OMIM:608931	SCN4A	6329	HP:0000486	Strabismus
OMIM:608931	SCN4A	6329	HP:0002715	Abnormality of the immune system
OMIM:608931	SCN4A	6329	HP:0003394	Muscle cramps
OMIM:608931	SCN4A	6329	HP:0000218	High palate
OMIM:608931	SCN4A	6329	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	SCN4A	6329	HP:0001270	Motor delay
OMIM:608931	SCN4A	6329	HP:0003680	Nonprogressive
OMIM:608931	SCN4A	6329	HP:0001260	Dysarthria
OMIM:608931	SCN4A	6329	HP:0001252	Muscular hypotonia
OMIM:608931	SCN4A	6329	HP:0010628	Facial palsy
OMIM:608931	SCN4A	6329	HP:0000508	Ptosis
OMIM:608931	SCN4A	6329	HP:0003593	Infantile onset
OMIM:608931	SCN4A	6329	HP:0000597	Ophthalmoparesis
OMIM:608931	SCN4A	6329	HP:0003391	Gowers sign
OMIM:608931	SCN4A	6329	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	SCN4A	6329	HP:0003202	Skeletal muscle atrophy
OMIM:608931	SCN4A	6329	HP:0000689	Dental malocclusion
OMIM:608931	SCN4A	6329	HP:0003828	Variable expressivity
OMIM:608931	AGRN	375790	HP:0002015	Dysphagia
OMIM:608931	AGRN	375790	HP:0011968	Feeding difficulties
OMIM:608931	AGRN	375790	HP:0000276	Long face
OMIM:608931	AGRN	375790	HP:0000303	Mandibular prognathia
OMIM:608931	AGRN	375790	HP:0001558	Decreased fetal movement
OMIM:608931	AGRN	375790	HP:0000007	Autosomal recessive inheritance
OMIM:608931	AGRN	375790	HP:0000486	Strabismus
OMIM:608931	AGRN	375790	HP:0002715	Abnormality of the immune system
OMIM:608931	AGRN	375790	HP:0003394	Muscle cramps
OMIM:608931	AGRN	375790	HP:0000218	High palate
OMIM:608931	AGRN	375790	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	AGRN	375790	HP:0001270	Motor delay
OMIM:608931	AGRN	375790	HP:0003680	Nonprogressive
OMIM:608931	AGRN	375790	HP:0001260	Dysarthria
OMIM:608931	AGRN	375790	HP:0001252	Muscular hypotonia
OMIM:608931	AGRN	375790	HP:0010628	Facial palsy
OMIM:608931	AGRN	375790	HP:0000508	Ptosis
OMIM:608931	AGRN	375790	HP:0003593	Infantile onset
OMIM:608931	AGRN	375790	HP:0000597	Ophthalmoparesis
OMIM:608931	AGRN	375790	HP:0003391	Gowers sign
OMIM:608931	AGRN	375790	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	AGRN	375790	HP:0003202	Skeletal muscle atrophy
OMIM:608931	AGRN	375790	HP:0000689	Dental malocclusion
OMIM:608931	AGRN	375790	HP:0003828	Variable expressivity
OMIM:608931	CHRNA1	1134	HP:0002015	Dysphagia
OMIM:608931	CHRNA1	1134	HP:0011968	Feeding difficulties
OMIM:608931	CHRNA1	1134	HP:0000276	Long face
OMIM:608931	CHRNA1	1134	HP:0000303	Mandibular prognathia
OMIM:608931	CHRNA1	1134	HP:0001558	Decreased fetal movement
OMIM:608931	CHRNA1	1134	HP:0000007	Autosomal recessive inheritance
OMIM:608931	CHRNA1	1134	HP:0000486	Strabismus
OMIM:608931	CHRNA1	1134	HP:0002715	Abnormality of the immune system
OMIM:608931	CHRNA1	1134	HP:0003394	Muscle cramps
OMIM:608931	CHRNA1	1134	HP:0000218	High palate
OMIM:608931	CHRNA1	1134	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608931	CHRNA1	1134	HP:0001270	Motor delay
OMIM:608931	CHRNA1	1134	HP:0003680	Nonprogressive
OMIM:608931	CHRNA1	1134	HP:0001260	Dysarthria
OMIM:608931	CHRNA1	1134	HP:0001252	Muscular hypotonia
OMIM:608931	CHRNA1	1134	HP:0010628	Facial palsy
OMIM:608931	CHRNA1	1134	HP:0000508	Ptosis
OMIM:608931	CHRNA1	1134	HP:0003593	Infantile onset
OMIM:608931	CHRNA1	1134	HP:0000597	Ophthalmoparesis
OMIM:608931	CHRNA1	1134	HP:0003391	Gowers sign
OMIM:608931	CHRNA1	1134	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608931	CHRNA1	1134	HP:0003202	Skeletal muscle atrophy
OMIM:608931	CHRNA1	1134	HP:0000689	Dental malocclusion
OMIM:608931	CHRNA1	1134	HP:0003828	Variable expressivity
OMIM:153650	MYH9	4627	HP:0000421	Epistaxis
OMIM:153650	MYH9	4627	HP:0001873	Thrombocytopenia
OMIM:153650	MYH9	4627	HP:0000518	Cataract
OMIM:153650	MYH9	4627	HP:0000822	Hypertension
OMIM:153650	MYH9	4627	HP:0002239	Gastrointestinal hemorrhage
OMIM:153650	MYH9	4627	HP:0000123	Nephritis
OMIM:153650	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:153650	MYH9	4627	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:153650	MYH9	4627	HP:0003774	Stage 5 chronic kidney disease
OMIM:153650	MYH9	4627	HP:0000093	Proteinuria
OMIM:302800	GJB1	2705	HP:0002167	Neurological speech impairment
OMIM:302800	GJB1	2705	HP:0003829	Incomplete penetrance
OMIM:302800	GJB1	2705	HP:0002311	Incoordination
OMIM:302800	GJB1	2705	HP:0000407	Sensorineural hearing impairment
OMIM:302800	GJB1	2705	HP:0001419	X-linked recessive inheritance
OMIM:302800	GJB1	2705	HP:0007328	Impaired pain sensation
OMIM:302800	GJB1	2705	HP:0001260	Dysarthria
OMIM:302800	GJB1	2705	HP:0001761	Pes cavus
OMIM:302800	GJB1	2705	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:302800	GJB1	2705	HP:0002385	Paraparesis
OMIM:302800	GJB1	2705	HP:0001771	Achilles tendon contracture
OMIM:302800	GJB1	2705	HP:0001265	Hyporeflexia
OMIM:302800	GJB1	2705	HP:0001337	Tremor
OMIM:302800	GJB1	2705	HP:0003677	Slow progression
OMIM:302800	GJB1	2705	HP:0002936	Distal sensory impairment
OMIM:302800	GJB1	2705	HP:0001310	Dysmetria
OMIM:302800	GJB1	2705	HP:0000639	Nystagmus
OMIM:302800	GJB1	2705	HP:0001315	Reduced tendon reflexes
OMIM:302800	GJB1	2705	HP:0002500	Abnormality of the cerebral white matter
OMIM:302800	GJB1	2705	HP:0002650	Scoliosis
OMIM:302800	GJB1	2705	HP:0001270	Motor delay
OMIM:302800	GJB1	2705	HP:0001423	X-linked dominant inheritance
OMIM:302800	GJB1	2705	HP:0000365	Hearing impairment
OMIM:302800	GJB1	2705	HP:0002015	Dysphagia
OMIM:302800	GJB1	2705	HP:0002460	Distal muscle weakness
OMIM:302800	GJB1	2705	HP:0001324	Muscle weakness
OMIM:302800	GJB1	2705	HP:0001288	Gait disturbance
OMIM:302800	GJB1	2705	HP:0003202	Skeletal muscle atrophy
OMIM:302800	GJB1	2705	HP:0004374	Hemiplegia/hemiparesis
OMIM:302800	GJB1	2705	HP:0001272	Cerebellar atrophy
OMIM:302800	GJB1	2705	HP:0003693	Distal amyotrophy
OMIM:302800	GJB1	2705	HP:0003383	Onion bulb formation
OMIM:302800	GJB1	2705	HP:0002808	Kyphosis
OMIM:302800	GJB1	2705	HP:0002355	Difficulty walking
OMIM:302800	GJB1	2705	HP:0003431	Decreased motor nerve conduction velocity
OMIM:302800	GJB1	2705	HP:0003487	Babinski sign
OMIM:302800	GJB1	2705	HP:0000763	Sensory neuropathy
OMIM:302800	GJB1	2705	HP:0000762	Decreased nerve conduction velocity
OMIM:302800	GJB1	2705	HP:0004372	Reduced consciousness/confusion
OMIM:606176	ABCC8	6833	HP:0000508	Ptosis
OMIM:606176	ABCC8	6833	HP:0009466	Radial deviation of finger
OMIM:606176	ABCC8	6833	HP:0000463	Anteverted nares
OMIM:606176	ABCC8	6833	HP:0002715	Abnormality of the immune system
OMIM:606176	ABCC8	6833	HP:0003121	Limb joint contracture
OMIM:606176	ABCC8	6833	HP:0001250	Seizures
OMIM:606176	ABCC8	6833	HP:0001263	Global developmental delay
OMIM:606176	ABCC8	6833	HP:0001511	Intrauterine growth retardation
OMIM:606176	ABCC8	6833	HP:0001518	Small for gestational age
OMIM:606176	ABCC8	6833	HP:0000819	Diabetes mellitus
OMIM:606176	ABCC8	6833	HP:0001270	Motor delay
OMIM:606176	ABCC8	6833	HP:0001993	Ketoacidosis
OMIM:606176	ABCC8	6833	HP:0003074	Hyperglycemia
OMIM:606176	ABCC8	6833	HP:0009830	Peripheral neuropathy
OMIM:606176	ABCC8	6833	HP:0000343	Long philtrum
OMIM:606176	ABCC8	6833	HP:0002714	Downturned corners of mouth
OMIM:606176	ABCC8	6833	HP:0001324	Muscle weakness
OMIM:606176	ABCC8	6833	HP:0002521	Hypsarrhythmia
OMIM:606176	ABCC8	6833	HP:0003196	Short nose
OMIM:606176	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:606176	ABCC8	6833	HP:0030084	Clinodactyly
OMIM:606176	ABCC8	6833	HP:0000598	Abnormality of the ear
OMIM:606176	ABCC8	6833	HP:0008936	Muscular hypotonia of the trunk
OMIM:606176	PDX1	3651	HP:0000508	Ptosis
OMIM:606176	PDX1	3651	HP:0009466	Radial deviation of finger
OMIM:606176	PDX1	3651	HP:0000463	Anteverted nares
OMIM:606176	PDX1	3651	HP:0002715	Abnormality of the immune system
OMIM:606176	PDX1	3651	HP:0003121	Limb joint contracture
OMIM:606176	PDX1	3651	HP:0001250	Seizures
OMIM:606176	PDX1	3651	HP:0001263	Global developmental delay
OMIM:606176	PDX1	3651	HP:0001511	Intrauterine growth retardation
OMIM:606176	PDX1	3651	HP:0001518	Small for gestational age
OMIM:606176	PDX1	3651	HP:0000819	Diabetes mellitus
OMIM:606176	PDX1	3651	HP:0001270	Motor delay
OMIM:606176	PDX1	3651	HP:0001993	Ketoacidosis
OMIM:606176	PDX1	3651	HP:0003074	Hyperglycemia
OMIM:606176	PDX1	3651	HP:0009830	Peripheral neuropathy
OMIM:606176	PDX1	3651	HP:0000343	Long philtrum
OMIM:606176	PDX1	3651	HP:0002714	Downturned corners of mouth
OMIM:606176	PDX1	3651	HP:0001324	Muscle weakness
OMIM:606176	PDX1	3651	HP:0002521	Hypsarrhythmia
OMIM:606176	PDX1	3651	HP:0003196	Short nose
OMIM:606176	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:606176	PDX1	3651	HP:0030084	Clinodactyly
OMIM:606176	PDX1	3651	HP:0000598	Abnormality of the ear
OMIM:606176	PDX1	3651	HP:0008936	Muscular hypotonia of the trunk
OMIM:606176	GCK	2645	HP:0000508	Ptosis
OMIM:606176	GCK	2645	HP:0009466	Radial deviation of finger
OMIM:606176	GCK	2645	HP:0000463	Anteverted nares
OMIM:606176	GCK	2645	HP:0002715	Abnormality of the immune system
OMIM:606176	GCK	2645	HP:0003121	Limb joint contracture
OMIM:606176	GCK	2645	HP:0001250	Seizures
OMIM:606176	GCK	2645	HP:0001263	Global developmental delay
OMIM:606176	GCK	2645	HP:0001511	Intrauterine growth retardation
OMIM:606176	GCK	2645	HP:0001518	Small for gestational age
OMIM:606176	GCK	2645	HP:0000819	Diabetes mellitus
OMIM:606176	GCK	2645	HP:0001270	Motor delay
OMIM:606176	GCK	2645	HP:0001993	Ketoacidosis
OMIM:606176	GCK	2645	HP:0003074	Hyperglycemia
OMIM:606176	GCK	2645	HP:0009830	Peripheral neuropathy
OMIM:606176	GCK	2645	HP:0000343	Long philtrum
OMIM:606176	GCK	2645	HP:0002714	Downturned corners of mouth
OMIM:606176	GCK	2645	HP:0001324	Muscle weakness
OMIM:606176	GCK	2645	HP:0002521	Hypsarrhythmia
OMIM:606176	GCK	2645	HP:0003196	Short nose
OMIM:606176	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:606176	GCK	2645	HP:0030084	Clinodactyly
OMIM:606176	GCK	2645	HP:0000598	Abnormality of the ear
OMIM:606176	GCK	2645	HP:0008936	Muscular hypotonia of the trunk
OMIM:606176	KCNJ11	3767	HP:0000508	Ptosis
OMIM:606176	KCNJ11	3767	HP:0009466	Radial deviation of finger
OMIM:606176	KCNJ11	3767	HP:0000463	Anteverted nares
OMIM:606176	KCNJ11	3767	HP:0002715	Abnormality of the immune system
OMIM:606176	KCNJ11	3767	HP:0003121	Limb joint contracture
OMIM:606176	KCNJ11	3767	HP:0001250	Seizures
OMIM:606176	KCNJ11	3767	HP:0001263	Global developmental delay
OMIM:606176	KCNJ11	3767	HP:0001511	Intrauterine growth retardation
OMIM:606176	KCNJ11	3767	HP:0001518	Small for gestational age
OMIM:606176	KCNJ11	3767	HP:0000819	Diabetes mellitus
OMIM:606176	KCNJ11	3767	HP:0001270	Motor delay
OMIM:606176	KCNJ11	3767	HP:0001993	Ketoacidosis
OMIM:606176	KCNJ11	3767	HP:0003074	Hyperglycemia
OMIM:606176	KCNJ11	3767	HP:0009830	Peripheral neuropathy
OMIM:606176	KCNJ11	3767	HP:0000343	Long philtrum
OMIM:606176	KCNJ11	3767	HP:0002714	Downturned corners of mouth
OMIM:606176	KCNJ11	3767	HP:0001324	Muscle weakness
OMIM:606176	KCNJ11	3767	HP:0002521	Hypsarrhythmia
OMIM:606176	KCNJ11	3767	HP:0003196	Short nose
OMIM:606176	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:606176	KCNJ11	3767	HP:0030084	Clinodactyly
OMIM:606176	KCNJ11	3767	HP:0000598	Abnormality of the ear
OMIM:606176	KCNJ11	3767	HP:0008936	Muscular hypotonia of the trunk
OMIM:606176	INS	3630	HP:0000508	Ptosis
OMIM:606176	INS	3630	HP:0009466	Radial deviation of finger
OMIM:606176	INS	3630	HP:0000463	Anteverted nares
OMIM:606176	INS	3630	HP:0002715	Abnormality of the immune system
OMIM:606176	INS	3630	HP:0003121	Limb joint contracture
OMIM:606176	INS	3630	HP:0001250	Seizures
OMIM:606176	INS	3630	HP:0001263	Global developmental delay
OMIM:606176	INS	3630	HP:0001511	Intrauterine growth retardation
OMIM:606176	INS	3630	HP:0001518	Small for gestational age
OMIM:606176	INS	3630	HP:0000819	Diabetes mellitus
OMIM:606176	INS	3630	HP:0001270	Motor delay
OMIM:606176	INS	3630	HP:0001993	Ketoacidosis
OMIM:606176	INS	3630	HP:0003074	Hyperglycemia
OMIM:606176	INS	3630	HP:0009830	Peripheral neuropathy
OMIM:606176	INS	3630	HP:0000343	Long philtrum
OMIM:606176	INS	3630	HP:0002714	Downturned corners of mouth
OMIM:606176	INS	3630	HP:0001324	Muscle weakness
OMIM:606176	INS	3630	HP:0002521	Hypsarrhythmia
OMIM:606176	INS	3630	HP:0003196	Short nose
OMIM:606176	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:606176	INS	3630	HP:0030084	Clinodactyly
OMIM:606176	INS	3630	HP:0000598	Abnormality of the ear
OMIM:606176	INS	3630	HP:0008936	Muscular hypotonia of the trunk
OMIM:247650	IL17RC	84818	HP:0000007	Autosomal recessive inheritance
OMIM:247650	IL17RC	84818	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:247650	IL17RC	84818	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:247650	STAT1	6772	HP:0000007	Autosomal recessive inheritance
OMIM:247650	STAT1	6772	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:247650	STAT1	6772	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:247650	CLEC7A	64581	HP:0000007	Autosomal recessive inheritance
OMIM:247650	CLEC7A	64581	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:247650	CLEC7A	64581	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:247650	IL17RA	23765	HP:0000007	Autosomal recessive inheritance
OMIM:247650	IL17RA	23765	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:247650	IL17RA	23765	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:247650	TRAF3IP2	10758	HP:0000007	Autosomal recessive inheritance
OMIM:247650	TRAF3IP2	10758	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:247650	TRAF3IP2	10758	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:247650	IL17F	112744	HP:0000007	Autosomal recessive inheritance
OMIM:247650	IL17F	112744	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:247650	IL17F	112744	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:247650	CARD9	64170	HP:0000007	Autosomal recessive inheritance
OMIM:247650	CARD9	64170	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:247650	CARD9	64170	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:614134	COL9A1	1297	HP:0011003	Severe Myopia
OMIM:614134	COL9A1	1297	HP:0012368	Flat face
OMIM:614134	COL9A1	1297	HP:0000007	Autosomal recessive inheritance
OMIM:614134	COL9A1	1297	HP:0004322	Short stature
OMIM:614134	COL9A1	1297	HP:0000483	Astigmatism
OMIM:614134	COL9A1	1297	HP:0002857	Genu valgum
OMIM:614134	COL9A1	1297	HP:0000407	Sensorineural hearing impairment
OMIM:614134	COL9A2	1298	HP:0011003	Severe Myopia
OMIM:614134	COL9A2	1298	HP:0012368	Flat face
OMIM:614134	COL9A2	1298	HP:0000007	Autosomal recessive inheritance
OMIM:614134	COL9A2	1298	HP:0004322	Short stature
OMIM:614134	COL9A2	1298	HP:0000483	Astigmatism
OMIM:614134	COL9A2	1298	HP:0002857	Genu valgum
OMIM:614134	COL9A2	1298	HP:0000407	Sensorineural hearing impairment
OMIM:614134	COL9A3	1299	HP:0011003	Severe Myopia
OMIM:614134	COL9A3	1299	HP:0012368	Flat face
OMIM:614134	COL9A3	1299	HP:0000007	Autosomal recessive inheritance
OMIM:614134	COL9A3	1299	HP:0004322	Short stature
OMIM:614134	COL9A3	1299	HP:0000483	Astigmatism
OMIM:614134	COL9A3	1299	HP:0002857	Genu valgum
OMIM:614134	COL9A3	1299	HP:0000407	Sensorineural hearing impairment
OMIM:614134	COL11A1	1301	HP:0011003	Severe Myopia
OMIM:614134	COL11A1	1301	HP:0012368	Flat face
OMIM:614134	COL11A1	1301	HP:0000007	Autosomal recessive inheritance
OMIM:614134	COL11A1	1301	HP:0004322	Short stature
OMIM:614134	COL11A1	1301	HP:0000483	Astigmatism
OMIM:614134	COL11A1	1301	HP:0002857	Genu valgum
OMIM:614134	COL11A1	1301	HP:0000407	Sensorineural hearing impairment
OMIM:614894	IRF8	3394	HP:0000007	Autosomal recessive inheritance
OMIM:614894	IRF8	3394	HP:0003593	Infantile onset
OMIM:614894	IRF8	3394	HP:0001508	Failure to thrive
OMIM:249100	MEFV	4210	HP:0000083	Renal insufficiency
OMIM:249100	MEFV	4210	HP:0002829	Arthralgia
OMIM:249100	MEFV	4210	HP:0000100	Nephrotic syndrome
OMIM:249100	MEFV	4210	HP:0002027	Abdominal pain
OMIM:249100	MEFV	4210	HP:0000007	Autosomal recessive inheritance
OMIM:249100	MEFV	4210	HP:0002240	Hepatomegaly
OMIM:249100	MEFV	4210	HP:0001369	Arthritis
OMIM:249100	MEFV	4210	HP:0001974	Leukocytosis
OMIM:249100	MEFV	4210	HP:0001287	Meningitis
OMIM:249100	MEFV	4210	HP:0001744	Splenomegaly
OMIM:613501	BLNK	29760	HP:0002837	Recurrent bronchitis
OMIM:613501	BLNK	29760	HP:0000403	Recurrent otitis media
OMIM:613501	BLNK	29760	HP:0000007	Autosomal recessive inheritance
OMIM:613501	BLNK	29760	HP:0001875	Neutropenia
OMIM:613501	BLNK	29760	HP:0001508	Failure to thrive
OMIM:613501	BLNK	29760	HP:0002718	Recurrent bacterial infections
OMIM:613501	BLNK	29760	HP:0002014	Diarrhea
OMIM:613501	BLNK	29760	HP:0004432	Agammaglobulinemia
OMIM:613501	TCF3	6929	HP:0002837	Recurrent bronchitis
OMIM:613501	TCF3	6929	HP:0000403	Recurrent otitis media
OMIM:613501	TCF3	6929	HP:0000007	Autosomal recessive inheritance
OMIM:613501	TCF3	6929	HP:0001875	Neutropenia
OMIM:613501	TCF3	6929	HP:0001508	Failure to thrive
OMIM:613501	TCF3	6929	HP:0002718	Recurrent bacterial infections
OMIM:613501	TCF3	6929	HP:0002014	Diarrhea
OMIM:613501	TCF3	6929	HP:0004432	Agammaglobulinemia
OMIM:613501	IGHM	3507	HP:0002837	Recurrent bronchitis
OMIM:613501	IGHM	3507	HP:0000403	Recurrent otitis media
OMIM:613501	IGHM	3507	HP:0000007	Autosomal recessive inheritance
OMIM:613501	IGHM	3507	HP:0001875	Neutropenia
OMIM:613501	IGHM	3507	HP:0001508	Failure to thrive
OMIM:613501	IGHM	3507	HP:0002718	Recurrent bacterial infections
OMIM:613501	IGHM	3507	HP:0002014	Diarrhea
OMIM:613501	IGHM	3507	HP:0004432	Agammaglobulinemia
OMIM:613501	LRRC8A	56262	HP:0002837	Recurrent bronchitis
OMIM:613501	LRRC8A	56262	HP:0000403	Recurrent otitis media
OMIM:613501	LRRC8A	56262	HP:0000007	Autosomal recessive inheritance
OMIM:613501	LRRC8A	56262	HP:0001875	Neutropenia
OMIM:613501	LRRC8A	56262	HP:0001508	Failure to thrive
OMIM:613501	LRRC8A	56262	HP:0002718	Recurrent bacterial infections
OMIM:613501	LRRC8A	56262	HP:0002014	Diarrhea
OMIM:613501	LRRC8A	56262	HP:0004432	Agammaglobulinemia
OMIM:613501	IGLL1	3543	HP:0002837	Recurrent bronchitis
OMIM:613501	IGLL1	3543	HP:0000403	Recurrent otitis media
OMIM:613501	IGLL1	3543	HP:0000007	Autosomal recessive inheritance
OMIM:613501	IGLL1	3543	HP:0001875	Neutropenia
OMIM:613501	IGLL1	3543	HP:0001508	Failure to thrive
OMIM:613501	IGLL1	3543	HP:0002718	Recurrent bacterial infections
OMIM:613501	IGLL1	3543	HP:0002014	Diarrhea
OMIM:613501	IGLL1	3543	HP:0004432	Agammaglobulinemia
OMIM:613501	CD79A	973	HP:0002837	Recurrent bronchitis
OMIM:613501	CD79A	973	HP:0000403	Recurrent otitis media
OMIM:613501	CD79A	973	HP:0000007	Autosomal recessive inheritance
OMIM:613501	CD79A	973	HP:0001875	Neutropenia
OMIM:613501	CD79A	973	HP:0001508	Failure to thrive
OMIM:613501	CD79A	973	HP:0002718	Recurrent bacterial infections
OMIM:613501	CD79A	973	HP:0002014	Diarrhea
OMIM:613501	CD79A	973	HP:0004432	Agammaglobulinemia
OMIM:613501	CD79B	974	HP:0002837	Recurrent bronchitis
OMIM:613501	CD79B	974	HP:0000403	Recurrent otitis media
OMIM:613501	CD79B	974	HP:0000007	Autosomal recessive inheritance
OMIM:613501	CD79B	974	HP:0001875	Neutropenia
OMIM:613501	CD79B	974	HP:0001508	Failure to thrive
OMIM:613501	CD79B	974	HP:0002718	Recurrent bacterial infections
OMIM:613501	CD79B	974	HP:0002014	Diarrhea
OMIM:613501	CD79B	974	HP:0004432	Agammaglobulinemia
OMIM:613501	PIK3R1	5295	HP:0002837	Recurrent bronchitis
OMIM:613501	PIK3R1	5295	HP:0000403	Recurrent otitis media
OMIM:613501	PIK3R1	5295	HP:0000007	Autosomal recessive inheritance
OMIM:613501	PIK3R1	5295	HP:0001875	Neutropenia
OMIM:613501	PIK3R1	5295	HP:0001508	Failure to thrive
OMIM:613501	PIK3R1	5295	HP:0002718	Recurrent bacterial infections
OMIM:613501	PIK3R1	5295	HP:0002014	Diarrhea
OMIM:613501	PIK3R1	5295	HP:0004432	Agammaglobulinemia
OMIM:612691	FIG4	9896	HP:0002126	Polymicrogyria
OMIM:612691	FIG4	9896	HP:0000718	Aggressive behavior
OMIM:612691	FIG4	9896	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:612691	FIG4	9896	HP:0002119	Ventriculomegaly
OMIM:612691	FIG4	9896	HP:0002133	Status epilepticus
OMIM:612691	FIG4	9896	HP:0002367	Visual hallucinations
OMIM:202370	PEX19	5824	HP:0000218	High palate
OMIM:202370	PEX19	5824	HP:0001250	Seizures
OMIM:202370	PEX19	5824	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX19	5824	HP:0000369	Low-set ears
OMIM:202370	PEX19	5824	HP:0000431	Wide nasal bridge
OMIM:202370	PEX19	5824	HP:0000286	Epicanthus
OMIM:202370	PEX19	5824	HP:0001249	Intellectual disability
OMIM:202370	PEX19	5824	HP:0010696	Polar cataract
OMIM:202370	PEX19	5824	HP:0000268	Dolichocephaly
OMIM:202370	PEX19	5824	HP:0000463	Anteverted nares
OMIM:202370	PEX19	5824	HP:0002007	Frontal bossing
OMIM:202370	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX19	5824	HP:0001999	Abnormal facial shape
OMIM:202370	PEX19	5824	HP:0000565	Esotropia
OMIM:202370	PEX16	9409	HP:0000218	High palate
OMIM:202370	PEX16	9409	HP:0001250	Seizures
OMIM:202370	PEX16	9409	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX16	9409	HP:0000369	Low-set ears
OMIM:202370	PEX16	9409	HP:0000431	Wide nasal bridge
OMIM:202370	PEX16	9409	HP:0000286	Epicanthus
OMIM:202370	PEX16	9409	HP:0001249	Intellectual disability
OMIM:202370	PEX16	9409	HP:0010696	Polar cataract
OMIM:202370	PEX16	9409	HP:0000268	Dolichocephaly
OMIM:202370	PEX16	9409	HP:0000463	Anteverted nares
OMIM:202370	PEX16	9409	HP:0002007	Frontal bossing
OMIM:202370	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX16	9409	HP:0001999	Abnormal facial shape
OMIM:202370	PEX16	9409	HP:0000565	Esotropia
OMIM:202370	PEX2	5828	HP:0000218	High palate
OMIM:202370	PEX2	5828	HP:0001250	Seizures
OMIM:202370	PEX2	5828	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX2	5828	HP:0000369	Low-set ears
OMIM:202370	PEX2	5828	HP:0000431	Wide nasal bridge
OMIM:202370	PEX2	5828	HP:0000286	Epicanthus
OMIM:202370	PEX2	5828	HP:0001249	Intellectual disability
OMIM:202370	PEX2	5828	HP:0010696	Polar cataract
OMIM:202370	PEX2	5828	HP:0000268	Dolichocephaly
OMIM:202370	PEX2	5828	HP:0000463	Anteverted nares
OMIM:202370	PEX2	5828	HP:0002007	Frontal bossing
OMIM:202370	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX2	5828	HP:0001999	Abnormal facial shape
OMIM:202370	PEX2	5828	HP:0000565	Esotropia
OMIM:202370	PEX1	5189	HP:0000218	High palate
OMIM:202370	PEX1	5189	HP:0001250	Seizures
OMIM:202370	PEX1	5189	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX1	5189	HP:0000369	Low-set ears
OMIM:202370	PEX1	5189	HP:0000431	Wide nasal bridge
OMIM:202370	PEX1	5189	HP:0000286	Epicanthus
OMIM:202370	PEX1	5189	HP:0001249	Intellectual disability
OMIM:202370	PEX1	5189	HP:0010696	Polar cataract
OMIM:202370	PEX1	5189	HP:0000268	Dolichocephaly
OMIM:202370	PEX1	5189	HP:0000463	Anteverted nares
OMIM:202370	PEX1	5189	HP:0002007	Frontal bossing
OMIM:202370	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX1	5189	HP:0001999	Abnormal facial shape
OMIM:202370	PEX1	5189	HP:0000565	Esotropia
OMIM:202370	PEX5	5830	HP:0000218	High palate
OMIM:202370	PEX5	5830	HP:0001250	Seizures
OMIM:202370	PEX5	5830	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX5	5830	HP:0000369	Low-set ears
OMIM:202370	PEX5	5830	HP:0000431	Wide nasal bridge
OMIM:202370	PEX5	5830	HP:0000286	Epicanthus
OMIM:202370	PEX5	5830	HP:0001249	Intellectual disability
OMIM:202370	PEX5	5830	HP:0010696	Polar cataract
OMIM:202370	PEX5	5830	HP:0000268	Dolichocephaly
OMIM:202370	PEX5	5830	HP:0000463	Anteverted nares
OMIM:202370	PEX5	5830	HP:0002007	Frontal bossing
OMIM:202370	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX5	5830	HP:0001999	Abnormal facial shape
OMIM:202370	PEX5	5830	HP:0000565	Esotropia
OMIM:202370	PEX6	5190	HP:0000218	High palate
OMIM:202370	PEX6	5190	HP:0001250	Seizures
OMIM:202370	PEX6	5190	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX6	5190	HP:0000369	Low-set ears
OMIM:202370	PEX6	5190	HP:0000431	Wide nasal bridge
OMIM:202370	PEX6	5190	HP:0000286	Epicanthus
OMIM:202370	PEX6	5190	HP:0001249	Intellectual disability
OMIM:202370	PEX6	5190	HP:0010696	Polar cataract
OMIM:202370	PEX6	5190	HP:0000268	Dolichocephaly
OMIM:202370	PEX6	5190	HP:0000463	Anteverted nares
OMIM:202370	PEX6	5190	HP:0002007	Frontal bossing
OMIM:202370	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX6	5190	HP:0001999	Abnormal facial shape
OMIM:202370	PEX6	5190	HP:0000565	Esotropia
OMIM:202370	PEX10	5192	HP:0000218	High palate
OMIM:202370	PEX10	5192	HP:0001250	Seizures
OMIM:202370	PEX10	5192	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX10	5192	HP:0000369	Low-set ears
OMIM:202370	PEX10	5192	HP:0000431	Wide nasal bridge
OMIM:202370	PEX10	5192	HP:0000286	Epicanthus
OMIM:202370	PEX10	5192	HP:0001249	Intellectual disability
OMIM:202370	PEX10	5192	HP:0010696	Polar cataract
OMIM:202370	PEX10	5192	HP:0000268	Dolichocephaly
OMIM:202370	PEX10	5192	HP:0000463	Anteverted nares
OMIM:202370	PEX10	5192	HP:0002007	Frontal bossing
OMIM:202370	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX10	5192	HP:0001999	Abnormal facial shape
OMIM:202370	PEX10	5192	HP:0000565	Esotropia
OMIM:202370	PEX12	5193	HP:0000218	High palate
OMIM:202370	PEX12	5193	HP:0001250	Seizures
OMIM:202370	PEX12	5193	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX12	5193	HP:0000369	Low-set ears
OMIM:202370	PEX12	5193	HP:0000431	Wide nasal bridge
OMIM:202370	PEX12	5193	HP:0000286	Epicanthus
OMIM:202370	PEX12	5193	HP:0001249	Intellectual disability
OMIM:202370	PEX12	5193	HP:0010696	Polar cataract
OMIM:202370	PEX12	5193	HP:0000268	Dolichocephaly
OMIM:202370	PEX12	5193	HP:0000463	Anteverted nares
OMIM:202370	PEX12	5193	HP:0002007	Frontal bossing
OMIM:202370	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX12	5193	HP:0001999	Abnormal facial shape
OMIM:202370	PEX12	5193	HP:0000565	Esotropia
OMIM:202370	PEX13	5194	HP:0000218	High palate
OMIM:202370	PEX13	5194	HP:0001250	Seizures
OMIM:202370	PEX13	5194	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX13	5194	HP:0000369	Low-set ears
OMIM:202370	PEX13	5194	HP:0000431	Wide nasal bridge
OMIM:202370	PEX13	5194	HP:0000286	Epicanthus
OMIM:202370	PEX13	5194	HP:0001249	Intellectual disability
OMIM:202370	PEX13	5194	HP:0010696	Polar cataract
OMIM:202370	PEX13	5194	HP:0000268	Dolichocephaly
OMIM:202370	PEX13	5194	HP:0000463	Anteverted nares
OMIM:202370	PEX13	5194	HP:0002007	Frontal bossing
OMIM:202370	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX13	5194	HP:0001999	Abnormal facial shape
OMIM:202370	PEX13	5194	HP:0000565	Esotropia
OMIM:202370	PEX14	5195	HP:0000218	High palate
OMIM:202370	PEX14	5195	HP:0001250	Seizures
OMIM:202370	PEX14	5195	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX14	5195	HP:0000369	Low-set ears
OMIM:202370	PEX14	5195	HP:0000431	Wide nasal bridge
OMIM:202370	PEX14	5195	HP:0000286	Epicanthus
OMIM:202370	PEX14	5195	HP:0001249	Intellectual disability
OMIM:202370	PEX14	5195	HP:0010696	Polar cataract
OMIM:202370	PEX14	5195	HP:0000268	Dolichocephaly
OMIM:202370	PEX14	5195	HP:0000463	Anteverted nares
OMIM:202370	PEX14	5195	HP:0002007	Frontal bossing
OMIM:202370	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX14	5195	HP:0001999	Abnormal facial shape
OMIM:202370	PEX14	5195	HP:0000565	Esotropia
OMIM:202370	PEX26	55670	HP:0000218	High palate
OMIM:202370	PEX26	55670	HP:0001250	Seizures
OMIM:202370	PEX26	55670	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX26	55670	HP:0000369	Low-set ears
OMIM:202370	PEX26	55670	HP:0000431	Wide nasal bridge
OMIM:202370	PEX26	55670	HP:0000286	Epicanthus
OMIM:202370	PEX26	55670	HP:0001249	Intellectual disability
OMIM:202370	PEX26	55670	HP:0010696	Polar cataract
OMIM:202370	PEX26	55670	HP:0000268	Dolichocephaly
OMIM:202370	PEX26	55670	HP:0000463	Anteverted nares
OMIM:202370	PEX26	55670	HP:0002007	Frontal bossing
OMIM:202370	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX26	55670	HP:0001999	Abnormal facial shape
OMIM:202370	PEX26	55670	HP:0000565	Esotropia
OMIM:202370	PEX3	8504	HP:0000218	High palate
OMIM:202370	PEX3	8504	HP:0001250	Seizures
OMIM:202370	PEX3	8504	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX3	8504	HP:0000369	Low-set ears
OMIM:202370	PEX3	8504	HP:0000431	Wide nasal bridge
OMIM:202370	PEX3	8504	HP:0000286	Epicanthus
OMIM:202370	PEX3	8504	HP:0001249	Intellectual disability
OMIM:202370	PEX3	8504	HP:0010696	Polar cataract
OMIM:202370	PEX3	8504	HP:0000268	Dolichocephaly
OMIM:202370	PEX3	8504	HP:0000463	Anteverted nares
OMIM:202370	PEX3	8504	HP:0002007	Frontal bossing
OMIM:202370	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX3	8504	HP:0001999	Abnormal facial shape
OMIM:202370	PEX3	8504	HP:0000565	Esotropia
OMIM:202370	PEX11B	8799	HP:0000218	High palate
OMIM:202370	PEX11B	8799	HP:0001250	Seizures
OMIM:202370	PEX11B	8799	HP:0000846	Adrenal insufficiency
OMIM:202370	PEX11B	8799	HP:0000369	Low-set ears
OMIM:202370	PEX11B	8799	HP:0000431	Wide nasal bridge
OMIM:202370	PEX11B	8799	HP:0000286	Epicanthus
OMIM:202370	PEX11B	8799	HP:0001249	Intellectual disability
OMIM:202370	PEX11B	8799	HP:0010696	Polar cataract
OMIM:202370	PEX11B	8799	HP:0000268	Dolichocephaly
OMIM:202370	PEX11B	8799	HP:0000463	Anteverted nares
OMIM:202370	PEX11B	8799	HP:0002007	Frontal bossing
OMIM:202370	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:202370	PEX11B	8799	HP:0001999	Abnormal facial shape
OMIM:202370	PEX11B	8799	HP:0000565	Esotropia
OMIM:119540	UBB	7314	HP:0002187	Intellectual disability, profound
OMIM:119540	UBB	7314	HP:0000175	Cleft palate
OMIM:119540	UBB	7314	HP:0100335	Non-midline cleft lip
OMIM:119540	UBB	7314	HP:0000212	Gingival overgrowth
OMIM:119540	UBB	7314	HP:0001250	Seizures
OMIM:119540	UBB	7314	HP:0000006	Autosomal dominant inheritance
OMIM:119540	UBB	7314	HP:0000347	Micrognathia
OMIM:613718	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:613718	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:613718	BSND	7809	HP:0000365	Hearing impairment
OMIM:613718	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:613718	ESPN	83715	HP:0000365	Hearing impairment
OMIM:613718	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:613718	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:613718	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:613718	OTOA	146183	HP:0000365	Hearing impairment
OMIM:613718	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:613718	GJA1	2697	HP:0000365	Hearing impairment
OMIM:613718	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:613718	MET	4233	HP:0000365	Hearing impairment
OMIM:613718	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:613718	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:613718	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:613718	HGF	3082	HP:0000365	Hearing impairment
OMIM:613718	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:613718	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:613718	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:613718	EPS8	2059	HP:0000365	Hearing impairment
OMIM:613718	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:613718	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:613718	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:613718	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:613718	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:613718	GJB2	2706	HP:0000365	Hearing impairment
OMIM:613718	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:613718	GJB3	2707	HP:0000365	Hearing impairment
OMIM:613718	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:613718	CABP2	51475	HP:0000365	Hearing impairment
OMIM:613718	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:613718	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:613718	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:613718	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:613718	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:613718	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:613718	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:613718	CIB2	10518	HP:0000365	Hearing impairment
OMIM:613718	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613718	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:613718	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:613718	KARS	3735	HP:0000365	Hearing impairment
OMIM:613718	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:613718	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:613718	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:613718	TMC1	117531	HP:0000365	Hearing impairment
OMIM:613718	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:613718	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:613718	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:613718	OTOF	9381	HP:0000365	Hearing impairment
OMIM:613718	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:613718	MYO6	4646	HP:0000365	Hearing impairment
OMIM:613718	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:613718	TMIE	259236	HP:0000365	Hearing impairment
OMIM:613718	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:613718	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:613718	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:613718	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:613718	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:613718	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:613718	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:613718	TPRN	286262	HP:0000365	Hearing impairment
OMIM:613718	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:613718	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:613718	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:613718	GJB6	10804	HP:0000365	Hearing impairment
OMIM:613718	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:613718	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:613718	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:613718	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:613718	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:613718	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:613718	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:613718	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:613718	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:613718	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:613718	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613718	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:613718	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:613718	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:613718	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:613718	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:613718	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:613718	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:613718	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:613718	CDH23	64072	HP:0000365	Hearing impairment
OMIM:613718	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:613718	RDX	5962	HP:0000365	Hearing impairment
OMIM:613718	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:613718	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:613718	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:613718	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:613718	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:613718	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:613718	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:613718	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:613718	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:613718	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:613718	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:613718	STRC	161497	HP:0000365	Hearing impairment
OMIM:613718	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:613718	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:613718	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:613718	TECTA	7007	HP:0000365	Hearing impairment
OMIM:613718	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:613718	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:613718	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:613718	USH1C	10083	HP:0000365	Hearing impairment
OMIM:613718	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:613718	ADCY1	107	HP:0000365	Hearing impairment
OMIM:613718	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:613718	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:613718	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:613718	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:613718	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:613718	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:613718	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:613718	OTOG	340990	HP:0000365	Hearing impairment
OMIM:613718	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:181500	DISC2	27184	HP:0000006	Autosomal dominant inheritance
OMIM:181500	DISC2	27184	HP:0000746	Delusions
OMIM:181500	DISC2	27184	HP:0000738	Hallucinations
OMIM:181500	DISC2	27184	HP:0100753	Schizophrenia
OMIM:181500	DISC2	27184	HP:0001425	Heterogeneous
OMIM:181500	DISC2	27184	HP:0002353	EEG abnormality
OMIM:158580	SLC5A7	60482	HP:0002460	Distal muscle weakness
OMIM:158580	SLC5A7	60482	HP:0009830	Peripheral neuropathy
OMIM:158580	SLC5A7	60482	HP:0001337	Tremor
OMIM:158580	SLC5A7	60482	HP:0001604	Vocal cord paresis
OMIM:158580	SLC5A7	60482	HP:0003693	Distal amyotrophy
OMIM:158580	SLC5A7	60482	HP:0001265	Hyporeflexia
OMIM:158580	SLC5A7	60482	HP:0001605	Vocal cord paralysis
OMIM:158580	SLC5A7	60482	HP:0000006	Autosomal dominant inheritance
OMIM:158580	SLC5A7	60482	HP:0001761	Pes cavus
OMIM:158580	SLC5A7	60482	HP:0003674	Onset
OMIM:158580	SLC5A7	60482	HP:0003677	Slow progression
OMIM:158580	SLC5A7	60482	HP:0002355	Difficulty walking
OMIM:158580	DCTN1	1639	HP:0002460	Distal muscle weakness
OMIM:158580	DCTN1	1639	HP:0009830	Peripheral neuropathy
OMIM:158580	DCTN1	1639	HP:0001337	Tremor
OMIM:158580	DCTN1	1639	HP:0001604	Vocal cord paresis
OMIM:158580	DCTN1	1639	HP:0003693	Distal amyotrophy
OMIM:158580	DCTN1	1639	HP:0001265	Hyporeflexia
OMIM:158580	DCTN1	1639	HP:0001605	Vocal cord paralysis
OMIM:158580	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:158580	DCTN1	1639	HP:0001761	Pes cavus
OMIM:158580	DCTN1	1639	HP:0003674	Onset
OMIM:158580	DCTN1	1639	HP:0003677	Slow progression
OMIM:158580	DCTN1	1639	HP:0002355	Difficulty walking
OMIM:610474	FGFR3	2261	HP:0000252	Microcephaly
OMIM:610474	FGFR3	2261	HP:0100490	Camptodactyly of finger
OMIM:610474	FGFR3	2261	HP:0000098	Tall stature
OMIM:610474	FGFR3	2261	HP:0001249	Intellectual disability
OMIM:610474	FGFR3	2261	HP:0001263	Global developmental delay
OMIM:610474	FGFR3	2261	HP:0000407	Sensorineural hearing impairment
OMIM:610474	FGFR3	2261	HP:0000767	Pectus excavatum
OMIM:610474	FGFR3	2261	HP:0002650	Scoliosis
OMIM:610474	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:610474	FGFR3	2261	HP:0000218	High palate
OMIM:610474	FGFR3	2261	HP:0000365	Hearing impairment
OMIM:610474	FGFR3	2261	HP:0009473	Joint contracture of the hand
OMIM:610474	FGFR3	2261	HP:0001166	Arachnodactyly
OMIM:106260	TP63	8626	HP:0000366	Abnormality of the nose
OMIM:106260	TP63	8626	HP:0008050	Abnormality of the palpebral fissures
OMIM:106260	TP63	8626	HP:0000509	Conjunctivitis
OMIM:106260	TP63	8626	HP:0000047	Hypospadias
OMIM:106260	TP63	8626	HP:0002558	Supernumerary nipple
OMIM:106260	TP63	8626	HP:0100335	Non-midline cleft lip
OMIM:106260	TP63	8626	HP:0000632	Lacrimation abnormality
OMIM:106260	TP63	8626	HP:0001798	Anonychia
OMIM:106260	TP63	8626	HP:0000499	Abnormality of the eyelashes
OMIM:106260	TP63	8626	HP:0000498	Blepharitis
OMIM:106260	TP63	8626	HP:0000953	Hyperpigmentation of the skin
OMIM:106260	TP63	8626	HP:0006482	Abnormality of dental morphology
OMIM:106260	TP63	8626	HP:0000668	Hypodontia
OMIM:106260	TP63	8626	HP:0000204	Cleft upper lip
OMIM:106260	TP63	8626	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:106260	TP63	8626	HP:0009755	Ankyloblepharon
OMIM:106260	TP63	8626	HP:0011362	Abnormal hair quantity
OMIM:106260	TP63	8626	HP:0001608	Abnormality of the voice
OMIM:106260	TP63	8626	HP:0000682	Abnormality of dental enamel
OMIM:106260	TP63	8626	HP:0001629	Ventricular septal defect
OMIM:106260	TP63	8626	HP:0000966	Hypohidrosis
OMIM:106260	TP63	8626	HP:0000347	Micrognathia
OMIM:106260	TP63	8626	HP:0006101	Finger syndactyly
OMIM:106260	TP63	8626	HP:0008388	Abnormality of the toenails
OMIM:106260	TP63	8626	HP:0000687	Widely spaced teeth
OMIM:106260	TP63	8626	HP:0000300	Oval face
OMIM:106260	TP63	8626	HP:0000175	Cleft palate
OMIM:106260	TP63	8626	HP:0000982	Palmoplantar keratoderma
OMIM:106260	TP63	8626	HP:0007440	Generalized hyperpigmentation
OMIM:106260	TP63	8626	HP:0004209	Clinodactyly of the 5th finger
OMIM:106260	TP63	8626	HP:0000327	Hypoplasia of the maxilla
OMIM:106260	TP63	8626	HP:0000707	Abnormality of the nervous system
OMIM:106260	TP63	8626	HP:0000970	Anhidrosis
OMIM:106260	TP63	8626	HP:0001231	Abnormality of the fingernails
OMIM:106260	TP63	8626	HP:0000431	Wide nasal bridge
OMIM:106260	TP63	8626	HP:0000405	Conductive hearing impairment
OMIM:106260	TP63	8626	HP:0001643	Patent ductus arteriosus
OMIM:106260	TP63	8626	HP:0000054	Micropenis
OMIM:106260	TP63	8626	HP:0002208	Coarse hair
OMIM:106260	TP63	8626	HP:0009804	Reduced number of teeth
OMIM:106260	TP63	8626	HP:0000653	Sparse eyelashes
OMIM:106260	TP63	8626	HP:0008404	Nail dystrophy
OMIM:106260	TP63	8626	HP:0000413	Atresia of the external auditory canal
OMIM:106260	TP63	8626	HP:0000377	Abnormality of the pinna
OMIM:106260	TP63	8626	HP:0001592	Selective tooth agenesis
OMIM:106260	TP63	8626	HP:0000684	Delayed eruption of teeth
OMIM:106260	TP63	8626	HP:0004691	2-3 toe syndactyly
OMIM:106260	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:613093	GUCA1A	2978	HP:0000613	Photophobia
OMIM:613093	GUCA1A	2978	HP:0000639	Nystagmus
OMIM:613093	GUCA1A	2978	HP:0000505	Visual impairment
OMIM:613093	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:613093	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:613093	GUCA1A	2978	HP:0000007	Autosomal recessive inheritance
OMIM:613093	RPGR	6103	HP:0000613	Photophobia
OMIM:613093	RPGR	6103	HP:0000639	Nystagmus
OMIM:613093	RPGR	6103	HP:0000505	Visual impairment
OMIM:613093	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:613093	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:613093	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613093	PDE6C	5146	HP:0000613	Photophobia
OMIM:613093	PDE6C	5146	HP:0000639	Nystagmus
OMIM:613093	PDE6C	5146	HP:0000505	Visual impairment
OMIM:613093	PDE6C	5146	HP:0000548	Cone/cone-rod dystrophy
OMIM:613093	PDE6C	5146	HP:0007663	Reduced visual acuity
OMIM:613093	PDE6C	5146	HP:0000007	Autosomal recessive inheritance
OMIM:613093	CNGB3	54714	HP:0000613	Photophobia
OMIM:613093	CNGB3	54714	HP:0000639	Nystagmus
OMIM:613093	CNGB3	54714	HP:0000505	Visual impairment
OMIM:613093	CNGB3	54714	HP:0000548	Cone/cone-rod dystrophy
OMIM:613093	CNGB3	54714	HP:0007663	Reduced visual acuity
OMIM:613093	CNGB3	54714	HP:0000007	Autosomal recessive inheritance
OMIM:613093	GNAT2	2780	HP:0000613	Photophobia
OMIM:613093	GNAT2	2780	HP:0000639	Nystagmus
OMIM:613093	GNAT2	2780	HP:0000505	Visual impairment
OMIM:613093	GNAT2	2780	HP:0000548	Cone/cone-rod dystrophy
OMIM:613093	GNAT2	2780	HP:0007663	Reduced visual acuity
OMIM:613093	GNAT2	2780	HP:0000007	Autosomal recessive inheritance
OMIM:613093	CNGA3	1261	HP:0000613	Photophobia
OMIM:613093	CNGA3	1261	HP:0000639	Nystagmus
OMIM:613093	CNGA3	1261	HP:0000505	Visual impairment
OMIM:613093	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:613093	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:613093	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:613093	PDE6H	5149	HP:0000613	Photophobia
OMIM:613093	PDE6H	5149	HP:0000639	Nystagmus
OMIM:613093	PDE6H	5149	HP:0000505	Visual impairment
OMIM:613093	PDE6H	5149	HP:0000548	Cone/cone-rod dystrophy
OMIM:613093	PDE6H	5149	HP:0007663	Reduced visual acuity
OMIM:613093	PDE6H	5149	HP:0000007	Autosomal recessive inheritance
OMIM:613093	ATF6	22926	HP:0000613	Photophobia
OMIM:613093	ATF6	22926	HP:0000639	Nystagmus
OMIM:613093	ATF6	22926	HP:0000505	Visual impairment
OMIM:613093	ATF6	22926	HP:0000548	Cone/cone-rod dystrophy
OMIM:613093	ATF6	22926	HP:0007663	Reduced visual acuity
OMIM:613093	ATF6	22926	HP:0000007	Autosomal recessive inheritance
OMIM:311360	FMR1	2332	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:311360	FMR1	2332	HP:0000858	Menstrual irregularities
OMIM:311360	FMR1	2332	HP:0001417	X-linked inheritance
OMIM:155600	PTEN	5728	HP:0007716	Intraocular melanoma
OMIM:155600	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:155600	PTEN	5728	HP:0000478	Abnormality of the eye
OMIM:155600	PTEN	5728	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:155600	PTEN	5728	HP:0001054	Numerous nevi
OMIM:155600	PTEN	5728	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:155600	PTEN	5728	HP:0012056	Cutaneous melanoma
OMIM:155600	CDKN2A	1029	HP:0007716	Intraocular melanoma
OMIM:155600	CDKN2A	1029	HP:0000006	Autosomal dominant inheritance
OMIM:155600	CDKN2A	1029	HP:0000478	Abnormality of the eye
OMIM:155600	CDKN2A	1029	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:155600	CDKN2A	1029	HP:0001054	Numerous nevi
OMIM:155600	CDKN2A	1029	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:155600	CDKN2A	1029	HP:0012056	Cutaneous melanoma
OMIM:155600	CDKN2B	1030	HP:0007716	Intraocular melanoma
OMIM:155600	CDKN2B	1030	HP:0000006	Autosomal dominant inheritance
OMIM:155600	CDKN2B	1030	HP:0000478	Abnormality of the eye
OMIM:155600	CDKN2B	1030	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:155600	CDKN2B	1030	HP:0001054	Numerous nevi
OMIM:155600	CDKN2B	1030	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:155600	CDKN2B	1030	HP:0012056	Cutaneous melanoma
OMIM:155600	TERT	7015	HP:0007716	Intraocular melanoma
OMIM:155600	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:155600	TERT	7015	HP:0000478	Abnormality of the eye
OMIM:155600	TERT	7015	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:155600	TERT	7015	HP:0001054	Numerous nevi
OMIM:155600	TERT	7015	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:155600	TERT	7015	HP:0012056	Cutaneous melanoma
OMIM:155600	CDKN2D	1032	HP:0007716	Intraocular melanoma
OMIM:155600	CDKN2D	1032	HP:0000006	Autosomal dominant inheritance
OMIM:155600	CDKN2D	1032	HP:0000478	Abnormality of the eye
OMIM:155600	CDKN2D	1032	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:155600	CDKN2D	1032	HP:0001054	Numerous nevi
OMIM:155600	CDKN2D	1032	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:155600	CDKN2D	1032	HP:0012056	Cutaneous melanoma
OMIM:155600	POT1	25913	HP:0007716	Intraocular melanoma
OMIM:155600	POT1	25913	HP:0000006	Autosomal dominant inheritance
OMIM:155600	POT1	25913	HP:0000478	Abnormality of the eye
OMIM:155600	POT1	25913	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:155600	POT1	25913	HP:0001054	Numerous nevi
OMIM:155600	POT1	25913	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:155600	POT1	25913	HP:0012056	Cutaneous melanoma
OMIM:155600	CDK4	1019	HP:0007716	Intraocular melanoma
OMIM:155600	CDK4	1019	HP:0000006	Autosomal dominant inheritance
OMIM:155600	CDK4	1019	HP:0000478	Abnormality of the eye
OMIM:155600	CDK4	1019	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:155600	CDK4	1019	HP:0001054	Numerous nevi
OMIM:155600	CDK4	1019	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:155600	CDK4	1019	HP:0012056	Cutaneous melanoma
OMIM:155600	MC1R	4157	HP:0007716	Intraocular melanoma
OMIM:155600	MC1R	4157	HP:0000006	Autosomal dominant inheritance
OMIM:155600	MC1R	4157	HP:0000478	Abnormality of the eye
OMIM:155600	MC1R	4157	HP:0001074	Atypical nevi in non-sun exposed areas
OMIM:155600	MC1R	4157	HP:0001054	Numerous nevi
OMIM:155600	MC1R	4157	HP:0001062	Atypical nevi (>5mm with irregular edge and pigmentation)
OMIM:155600	MC1R	4157	HP:0012056	Cutaneous melanoma
OMIM:606721	CAV1	857	HP:0001310	Dysmetria
OMIM:606721	CAV1	857	HP:0000519	Congenital cataract
OMIM:606721	CAV1	857	HP:0003487	Babinski sign
OMIM:606721	CAV1	857	HP:0001733	Pancreatitis
OMIM:606721	CAV1	857	HP:0003828	Variable expressivity
OMIM:606721	CAV1	857	HP:0009125	Lipodystrophy
OMIM:606721	CAV1	857	HP:0002155	Hypertriglyceridemia
OMIM:606721	CAV1	857	HP:0000855	Insulin resistance
OMIM:606721	CAV1	857	HP:0000271	Abnormality of the face
OMIM:606721	CAV1	857	HP:0000580	Pigmentary retinopathy
OMIM:606721	CAV1	857	HP:0002066	Gait ataxia
OMIM:606721	CAV1	857	HP:0002169	Clonus
OMIM:606721	CAV1	857	HP:0000006	Autosomal dominant inheritance
OMIM:606721	CAV1	857	HP:0000639	Nystagmus
OMIM:606721	CAV1	857	HP:0000833	Glucose intolerance
OMIM:606721	CAV1	857	HP:0002936	Distal sensory impairment
OMIM:606721	CAV1	857	HP:0003124	Hypercholesterolemia
OMIM:606721	CAV1	857	HP:0007340	Lower limb muscle weakness
ORPHANET:99971	MDM2	4193	HP:0002242	Abnormality of the intestine
ORPHANET:99971	MDM2	4193	HP:0000951	Abnormality of the skin
ORPHANET:99971	MDM2	4193	HP:0100242	Sarcoma
ORPHANET:99971	MDM2	4193	HP:0000079	Abnormality of the urinary system
ORPHANET:99971	CDK4	1019	HP:0002242	Abnormality of the intestine
ORPHANET:99971	CDK4	1019	HP:0000951	Abnormality of the skin
ORPHANET:99971	CDK4	1019	HP:0100242	Sarcoma
ORPHANET:99971	CDK4	1019	HP:0000079	Abnormality of the urinary system
ORPHANET:99971	HMGA2	8091	HP:0002242	Abnormality of the intestine
ORPHANET:99971	HMGA2	8091	HP:0000951	Abnormality of the skin
ORPHANET:99971	HMGA2	8091	HP:0100242	Sarcoma
ORPHANET:99971	HMGA2	8091	HP:0000079	Abnormality of the urinary system
OMIM:607847	GFI1	2672	HP:0001875	Neutropenia
OMIM:607847	GFI1	2672	HP:0000006	Autosomal dominant inheritance
OMIM:252350	RNF213	57674	HP:0000007	Autosomal recessive inheritance
OMIM:252350	RNF213	57674	HP:0001009	Telangiectasia
OMIM:252350	ACTA2	59	HP:0000007	Autosomal recessive inheritance
OMIM:252350	ACTA2	59	HP:0001009	Telangiectasia
OMIM:607361	B9D1	27077	HP:0000175	Cleft palate
OMIM:607361	B9D1	27077	HP:0001395	Hepatic fibrosis
OMIM:607361	B9D1	27077	HP:0000238	Hydrocephalus
OMIM:607361	B9D1	27077	HP:0001162	Postaxial hand polydactyly
OMIM:607361	B9D1	27077	HP:0002084	Encephalocele
OMIM:607361	B9D1	27077	HP:0010442	Polydactyly
OMIM:607361	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:607361	B9D1	27077	HP:0001408	Bile duct proliferation
OMIM:607361	B9D1	27077	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	B9D1	27077	HP:0001305	Dandy-Walker malformation
OMIM:607361	RPGRIP1	57096	HP:0000175	Cleft palate
OMIM:607361	RPGRIP1	57096	HP:0001395	Hepatic fibrosis
OMIM:607361	RPGRIP1	57096	HP:0000238	Hydrocephalus
OMIM:607361	RPGRIP1	57096	HP:0001162	Postaxial hand polydactyly
OMIM:607361	RPGRIP1	57096	HP:0002084	Encephalocele
OMIM:607361	RPGRIP1	57096	HP:0010442	Polydactyly
OMIM:607361	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:607361	RPGRIP1	57096	HP:0001408	Bile duct proliferation
OMIM:607361	RPGRIP1	57096	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	RPGRIP1	57096	HP:0001305	Dandy-Walker malformation
OMIM:607361	CC2D2A	57545	HP:0000175	Cleft palate
OMIM:607361	CC2D2A	57545	HP:0001395	Hepatic fibrosis
OMIM:607361	CC2D2A	57545	HP:0000238	Hydrocephalus
OMIM:607361	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:607361	CC2D2A	57545	HP:0002084	Encephalocele
OMIM:607361	CC2D2A	57545	HP:0010442	Polydactyly
OMIM:607361	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:607361	CC2D2A	57545	HP:0001408	Bile duct proliferation
OMIM:607361	CC2D2A	57545	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	CC2D2A	57545	HP:0001305	Dandy-Walker malformation
OMIM:607361	B9D2	80776	HP:0000175	Cleft palate
OMIM:607361	B9D2	80776	HP:0001395	Hepatic fibrosis
OMIM:607361	B9D2	80776	HP:0000238	Hydrocephalus
OMIM:607361	B9D2	80776	HP:0001162	Postaxial hand polydactyly
OMIM:607361	B9D2	80776	HP:0002084	Encephalocele
OMIM:607361	B9D2	80776	HP:0010442	Polydactyly
OMIM:607361	B9D2	80776	HP:0000007	Autosomal recessive inheritance
OMIM:607361	B9D2	80776	HP:0001408	Bile duct proliferation
OMIM:607361	B9D2	80776	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	B9D2	80776	HP:0001305	Dandy-Walker malformation
OMIM:607361	CSPP1	79848	HP:0000175	Cleft palate
OMIM:607361	CSPP1	79848	HP:0001395	Hepatic fibrosis
OMIM:607361	CSPP1	79848	HP:0000238	Hydrocephalus
OMIM:607361	CSPP1	79848	HP:0001162	Postaxial hand polydactyly
OMIM:607361	CSPP1	79848	HP:0002084	Encephalocele
OMIM:607361	CSPP1	79848	HP:0010442	Polydactyly
OMIM:607361	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:607361	CSPP1	79848	HP:0001408	Bile duct proliferation
OMIM:607361	CSPP1	79848	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	CSPP1	79848	HP:0001305	Dandy-Walker malformation
OMIM:607361	TMEM67	91147	HP:0000175	Cleft palate
OMIM:607361	TMEM67	91147	HP:0001395	Hepatic fibrosis
OMIM:607361	TMEM67	91147	HP:0000238	Hydrocephalus
OMIM:607361	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
OMIM:607361	TMEM67	91147	HP:0002084	Encephalocele
OMIM:607361	TMEM67	91147	HP:0010442	Polydactyly
OMIM:607361	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:607361	TMEM67	91147	HP:0001408	Bile duct proliferation
OMIM:607361	TMEM67	91147	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	TMEM67	91147	HP:0001305	Dandy-Walker malformation
OMIM:607361	WDPCP	51057	HP:0000175	Cleft palate
OMIM:607361	WDPCP	51057	HP:0001395	Hepatic fibrosis
OMIM:607361	WDPCP	51057	HP:0000238	Hydrocephalus
OMIM:607361	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
OMIM:607361	WDPCP	51057	HP:0002084	Encephalocele
OMIM:607361	WDPCP	51057	HP:0010442	Polydactyly
OMIM:607361	WDPCP	51057	HP:0000007	Autosomal recessive inheritance
OMIM:607361	WDPCP	51057	HP:0001408	Bile duct proliferation
OMIM:607361	WDPCP	51057	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	WDPCP	51057	HP:0001305	Dandy-Walker malformation
OMIM:607361	MKS1	54903	HP:0000175	Cleft palate
OMIM:607361	MKS1	54903	HP:0001395	Hepatic fibrosis
OMIM:607361	MKS1	54903	HP:0000238	Hydrocephalus
OMIM:607361	MKS1	54903	HP:0001162	Postaxial hand polydactyly
OMIM:607361	MKS1	54903	HP:0002084	Encephalocele
OMIM:607361	MKS1	54903	HP:0010442	Polydactyly
OMIM:607361	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:607361	MKS1	54903	HP:0001408	Bile duct proliferation
OMIM:607361	MKS1	54903	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	MKS1	54903	HP:0001305	Dandy-Walker malformation
OMIM:607361	CEP290	80184	HP:0000175	Cleft palate
OMIM:607361	CEP290	80184	HP:0001395	Hepatic fibrosis
OMIM:607361	CEP290	80184	HP:0000238	Hydrocephalus
OMIM:607361	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:607361	CEP290	80184	HP:0002084	Encephalocele
OMIM:607361	CEP290	80184	HP:0010442	Polydactyly
OMIM:607361	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:607361	CEP290	80184	HP:0001408	Bile duct proliferation
OMIM:607361	CEP290	80184	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	CEP290	80184	HP:0001305	Dandy-Walker malformation
OMIM:607361	RPGRIP1L	23322	HP:0000175	Cleft palate
OMIM:607361	RPGRIP1L	23322	HP:0001395	Hepatic fibrosis
OMIM:607361	RPGRIP1L	23322	HP:0000238	Hydrocephalus
OMIM:607361	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
OMIM:607361	RPGRIP1L	23322	HP:0002084	Encephalocele
OMIM:607361	RPGRIP1L	23322	HP:0010442	Polydactyly
OMIM:607361	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:607361	RPGRIP1L	23322	HP:0001408	Bile duct proliferation
OMIM:607361	RPGRIP1L	23322	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	RPGRIP1L	23322	HP:0001305	Dandy-Walker malformation
OMIM:607361	TCTN2	79867	HP:0000175	Cleft palate
OMIM:607361	TCTN2	79867	HP:0001395	Hepatic fibrosis
OMIM:607361	TCTN2	79867	HP:0000238	Hydrocephalus
OMIM:607361	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
OMIM:607361	TCTN2	79867	HP:0002084	Encephalocele
OMIM:607361	TCTN2	79867	HP:0010442	Polydactyly
OMIM:607361	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:607361	TCTN2	79867	HP:0001408	Bile duct proliferation
OMIM:607361	TCTN2	79867	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	TCTN2	79867	HP:0001305	Dandy-Walker malformation
OMIM:607361	TMEM216	51259	HP:0000175	Cleft palate
OMIM:607361	TMEM216	51259	HP:0001395	Hepatic fibrosis
OMIM:607361	TMEM216	51259	HP:0000238	Hydrocephalus
OMIM:607361	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:607361	TMEM216	51259	HP:0002084	Encephalocele
OMIM:607361	TMEM216	51259	HP:0010442	Polydactyly
OMIM:607361	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:607361	TMEM216	51259	HP:0001408	Bile duct proliferation
OMIM:607361	TMEM216	51259	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	TMEM216	51259	HP:0001305	Dandy-Walker malformation
OMIM:607361	TMEM231	79583	HP:0000175	Cleft palate
OMIM:607361	TMEM231	79583	HP:0001395	Hepatic fibrosis
OMIM:607361	TMEM231	79583	HP:0000238	Hydrocephalus
OMIM:607361	TMEM231	79583	HP:0001162	Postaxial hand polydactyly
OMIM:607361	TMEM231	79583	HP:0002084	Encephalocele
OMIM:607361	TMEM231	79583	HP:0010442	Polydactyly
OMIM:607361	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:607361	TMEM231	79583	HP:0001408	Bile duct proliferation
OMIM:607361	TMEM231	79583	HP:0000003	Multicystic kidney dysplasia
OMIM:607361	TMEM231	79583	HP:0001305	Dandy-Walker malformation
OMIM:616445	IL17RC	84818	HP:0011107	Recurrent aphthous stomatitis
OMIM:616445	STAT1	6772	HP:0011107	Recurrent aphthous stomatitis
OMIM:616445	CLEC7A	64581	HP:0011107	Recurrent aphthous stomatitis
OMIM:616445	IL17RA	23765	HP:0011107	Recurrent aphthous stomatitis
OMIM:616445	TRAF3IP2	10758	HP:0011107	Recurrent aphthous stomatitis
OMIM:616445	IL17F	112744	HP:0011107	Recurrent aphthous stomatitis
OMIM:616445	CARD9	64170	HP:0011107	Recurrent aphthous stomatitis
OMIM:613862	RLBP1	6017	HP:0007401	Macular atrophy
OMIM:613862	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613862	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:613862	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613862	RLBP1	6017	HP:0000529	Progressive visual loss
OMIM:613862	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613862	RLBP1	6017	HP:0200070	Peripheral retinal atrophy
OMIM:613862	SPATA7	55812	HP:0007401	Macular atrophy
OMIM:613862	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613862	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:613862	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613862	SPATA7	55812	HP:0000529	Progressive visual loss
OMIM:613862	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613862	SPATA7	55812	HP:0200070	Peripheral retinal atrophy
OMIM:613862	ARL6	84100	HP:0007401	Macular atrophy
OMIM:613862	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613862	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:613862	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613862	ARL6	84100	HP:0000529	Progressive visual loss
OMIM:613862	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613862	ARL6	84100	HP:0200070	Peripheral retinal atrophy
OMIM:613862	CERKL	375298	HP:0007401	Macular atrophy
OMIM:613862	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613862	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:613862	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613862	CERKL	375298	HP:0000529	Progressive visual loss
OMIM:613862	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613862	CERKL	375298	HP:0200070	Peripheral retinal atrophy
OMIM:613862	PRPF31	26121	HP:0007401	Macular atrophy
OMIM:613862	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613862	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:613862	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613862	PRPF31	26121	HP:0000529	Progressive visual loss
OMIM:613862	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613862	PRPF31	26121	HP:0200070	Peripheral retinal atrophy
OMIM:613862	TTC8	123016	HP:0007401	Macular atrophy
OMIM:613862	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613862	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:613862	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613862	TTC8	123016	HP:0000529	Progressive visual loss
OMIM:613862	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613862	TTC8	123016	HP:0200070	Peripheral retinal atrophy
OMIM:613862	PROM1	8842	HP:0007401	Macular atrophy
OMIM:613862	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613862	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:613862	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613862	PROM1	8842	HP:0000529	Progressive visual loss
OMIM:613862	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613862	PROM1	8842	HP:0200070	Peripheral retinal atrophy
OMIM:613862	LRAT	9227	HP:0007401	Macular atrophy
OMIM:613862	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613862	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:613862	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613862	LRAT	9227	HP:0000529	Progressive visual loss
OMIM:613862	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613862	LRAT	9227	HP:0200070	Peripheral retinal atrophy
OMIM:613862	IFT140	9742	HP:0007401	Macular atrophy
OMIM:613862	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613862	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:613862	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613862	IFT140	9742	HP:0000529	Progressive visual loss
OMIM:613862	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613862	IFT140	9742	HP:0200070	Peripheral retinal atrophy
OMIM:613862	BEST1	7439	HP:0007401	Macular atrophy
OMIM:613862	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613862	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:613862	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613862	BEST1	7439	HP:0000529	Progressive visual loss
OMIM:613862	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613862	BEST1	7439	HP:0200070	Peripheral retinal atrophy
OMIM:613862	NEK2	4751	HP:0007401	Macular atrophy
OMIM:613862	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613862	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:613862	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613862	NEK2	4751	HP:0000529	Progressive visual loss
OMIM:613862	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613862	NEK2	4751	HP:0200070	Peripheral retinal atrophy
OMIM:613862	ARL2BP	23568	HP:0007401	Macular atrophy
OMIM:613862	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613862	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:613862	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613862	ARL2BP	23568	HP:0000529	Progressive visual loss
OMIM:613862	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613862	ARL2BP	23568	HP:0200070	Peripheral retinal atrophy
OMIM:613862	NR2E3	10002	HP:0007401	Macular atrophy
OMIM:613862	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613862	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:613862	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613862	NR2E3	10002	HP:0000529	Progressive visual loss
OMIM:613862	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613862	NR2E3	10002	HP:0200070	Peripheral retinal atrophy
OMIM:613862	EYS	346007	HP:0007401	Macular atrophy
OMIM:613862	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613862	EYS	346007	HP:0000543	Optic disc pallor
OMIM:613862	EYS	346007	HP:0000662	Nyctalopia
OMIM:613862	EYS	346007	HP:0000529	Progressive visual loss
OMIM:613862	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613862	EYS	346007	HP:0200070	Peripheral retinal atrophy
OMIM:613862	MAK	4117	HP:0007401	Macular atrophy
OMIM:613862	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613862	MAK	4117	HP:0000543	Optic disc pallor
OMIM:613862	MAK	4117	HP:0000662	Nyctalopia
OMIM:613862	MAK	4117	HP:0000529	Progressive visual loss
OMIM:613862	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613862	MAK	4117	HP:0200070	Peripheral retinal atrophy
OMIM:613862	SAG	6295	HP:0007401	Macular atrophy
OMIM:613862	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613862	SAG	6295	HP:0000543	Optic disc pallor
OMIM:613862	SAG	6295	HP:0000662	Nyctalopia
OMIM:613862	SAG	6295	HP:0000529	Progressive visual loss
OMIM:613862	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613862	SAG	6295	HP:0200070	Peripheral retinal atrophy
OMIM:613862	ABCA4	24	HP:0007401	Macular atrophy
OMIM:613862	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613862	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:613862	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613862	ABCA4	24	HP:0000529	Progressive visual loss
OMIM:613862	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613862	ABCA4	24	HP:0200070	Peripheral retinal atrophy
OMIM:613862	PDE6A	5145	HP:0007401	Macular atrophy
OMIM:613862	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613862	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:613862	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613862	PDE6A	5145	HP:0000529	Progressive visual loss
OMIM:613862	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613862	PDE6A	5145	HP:0200070	Peripheral retinal atrophy
OMIM:613862	PDE6G	5148	HP:0007401	Macular atrophy
OMIM:613862	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613862	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:613862	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613862	PDE6G	5148	HP:0000529	Progressive visual loss
OMIM:613862	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613862	PDE6G	5148	HP:0200070	Peripheral retinal atrophy
OMIM:613862	IMPDH1	3614	HP:0007401	Macular atrophy
OMIM:613862	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613862	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:613862	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613862	IMPDH1	3614	HP:0000529	Progressive visual loss
OMIM:613862	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613862	IMPDH1	3614	HP:0200070	Peripheral retinal atrophy
OMIM:613862	OFD1	8481	HP:0007401	Macular atrophy
OMIM:613862	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613862	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:613862	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613862	OFD1	8481	HP:0000529	Progressive visual loss
OMIM:613862	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613862	OFD1	8481	HP:0200070	Peripheral retinal atrophy
OMIM:613862	GUCA1B	2979	HP:0007401	Macular atrophy
OMIM:613862	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613862	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:613862	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613862	GUCA1B	2979	HP:0000529	Progressive visual loss
OMIM:613862	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613862	GUCA1B	2979	HP:0200070	Peripheral retinal atrophy
OMIM:613862	NRL	4901	HP:0007401	Macular atrophy
OMIM:613862	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613862	NRL	4901	HP:0000543	Optic disc pallor
OMIM:613862	NRL	4901	HP:0000662	Nyctalopia
OMIM:613862	NRL	4901	HP:0000529	Progressive visual loss
OMIM:613862	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613862	NRL	4901	HP:0200070	Peripheral retinal atrophy
OMIM:613862	PDE6B	5158	HP:0007401	Macular atrophy
OMIM:613862	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613862	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:613862	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613862	PDE6B	5158	HP:0000529	Progressive visual loss
OMIM:613862	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613862	PDE6B	5158	HP:0200070	Peripheral retinal atrophy
OMIM:613862	KLHL7	55975	HP:0007401	Macular atrophy
OMIM:613862	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613862	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:613862	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613862	KLHL7	55975	HP:0000529	Progressive visual loss
OMIM:613862	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613862	KLHL7	55975	HP:0200070	Peripheral retinal atrophy
OMIM:613862	PRPF4	9128	HP:0007401	Macular atrophy
OMIM:613862	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613862	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:613862	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613862	PRPF4	9128	HP:0000529	Progressive visual loss
OMIM:613862	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613862	PRPF4	9128	HP:0200070	Peripheral retinal atrophy
OMIM:613862	PRPF3	9129	HP:0007401	Macular atrophy
OMIM:613862	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613862	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:613862	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613862	PRPF3	9129	HP:0000529	Progressive visual loss
OMIM:613862	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613862	PRPF3	9129	HP:0200070	Peripheral retinal atrophy
OMIM:613862	FAM161A	84140	HP:0007401	Macular atrophy
OMIM:613862	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613862	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:613862	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613862	FAM161A	84140	HP:0000529	Progressive visual loss
OMIM:613862	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613862	FAM161A	84140	HP:0200070	Peripheral retinal atrophy
OMIM:613862	IFT172	26160	HP:0007401	Macular atrophy
OMIM:613862	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613862	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:613862	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613862	IFT172	26160	HP:0000529	Progressive visual loss
OMIM:613862	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613862	IFT172	26160	HP:0200070	Peripheral retinal atrophy
OMIM:613862	KIZ	55857	HP:0007401	Macular atrophy
OMIM:613862	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613862	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:613862	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613862	KIZ	55857	HP:0000529	Progressive visual loss
OMIM:613862	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613862	KIZ	55857	HP:0200070	Peripheral retinal atrophy
OMIM:613862	CDHR1	92211	HP:0007401	Macular atrophy
OMIM:613862	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613862	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:613862	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613862	CDHR1	92211	HP:0000529	Progressive visual loss
OMIM:613862	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613862	CDHR1	92211	HP:0200070	Peripheral retinal atrophy
OMIM:613862	ZNF408	79797	HP:0007401	Macular atrophy
OMIM:613862	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613862	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:613862	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613862	ZNF408	79797	HP:0000529	Progressive visual loss
OMIM:613862	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613862	ZNF408	79797	HP:0200070	Peripheral retinal atrophy
OMIM:613862	RBP3	5949	HP:0007401	Macular atrophy
OMIM:613862	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613862	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:613862	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613862	RBP3	5949	HP:0000529	Progressive visual loss
OMIM:613862	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613862	RBP3	5949	HP:0200070	Peripheral retinal atrophy
OMIM:613862	HGSNAT	138050	HP:0007401	Macular atrophy
OMIM:613862	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613862	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:613862	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613862	HGSNAT	138050	HP:0000529	Progressive visual loss
OMIM:613862	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613862	HGSNAT	138050	HP:0200070	Peripheral retinal atrophy
OMIM:613862	FSCN2	25794	HP:0007401	Macular atrophy
OMIM:613862	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613862	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:613862	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613862	FSCN2	25794	HP:0000529	Progressive visual loss
OMIM:613862	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613862	FSCN2	25794	HP:0200070	Peripheral retinal atrophy
OMIM:613862	PRCD	768206	HP:0007401	Macular atrophy
OMIM:613862	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613862	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:613862	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613862	PRCD	768206	HP:0000529	Progressive visual loss
OMIM:613862	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613862	PRCD	768206	HP:0200070	Peripheral retinal atrophy
OMIM:613862	BBS2	583	HP:0007401	Macular atrophy
OMIM:613862	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613862	BBS2	583	HP:0000543	Optic disc pallor
OMIM:613862	BBS2	583	HP:0000662	Nyctalopia
OMIM:613862	BBS2	583	HP:0000529	Progressive visual loss
OMIM:613862	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613862	BBS2	583	HP:0200070	Peripheral retinal atrophy
OMIM:613862	RDH12	145226	HP:0007401	Macular atrophy
OMIM:613862	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613862	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:613862	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613862	RDH12	145226	HP:0000529	Progressive visual loss
OMIM:613862	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613862	RDH12	145226	HP:0200070	Peripheral retinal atrophy
OMIM:613862	PRPH2	5961	HP:0007401	Macular atrophy
OMIM:613862	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613862	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:613862	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613862	PRPH2	5961	HP:0000529	Progressive visual loss
OMIM:613862	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613862	PRPH2	5961	HP:0200070	Peripheral retinal atrophy
OMIM:613862	DHDDS	79947	HP:0007401	Macular atrophy
OMIM:613862	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613862	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:613862	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613862	DHDDS	79947	HP:0000529	Progressive visual loss
OMIM:613862	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613862	DHDDS	79947	HP:0200070	Peripheral retinal atrophy
OMIM:613862	ROM1	6094	HP:0007401	Macular atrophy
OMIM:613862	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613862	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:613862	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613862	ROM1	6094	HP:0000529	Progressive visual loss
OMIM:613862	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613862	ROM1	6094	HP:0200070	Peripheral retinal atrophy
OMIM:613862	C2ORF71	388939	HP:0007401	Macular atrophy
OMIM:613862	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613862	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:613862	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613862	C2ORF71	388939	HP:0000529	Progressive visual loss
OMIM:613862	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613862	C2ORF71	388939	HP:0200070	Peripheral retinal atrophy
OMIM:613862	RP9	6100	HP:0007401	Macular atrophy
OMIM:613862	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613862	RP9	6100	HP:0000543	Optic disc pallor
OMIM:613862	RP9	6100	HP:0000662	Nyctalopia
OMIM:613862	RP9	6100	HP:0000529	Progressive visual loss
OMIM:613862	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613862	RP9	6100	HP:0200070	Peripheral retinal atrophy
OMIM:613862	PRPF6	24148	HP:0007401	Macular atrophy
OMIM:613862	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613862	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:613862	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613862	PRPF6	24148	HP:0000529	Progressive visual loss
OMIM:613862	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613862	PRPF6	24148	HP:0200070	Peripheral retinal atrophy
OMIM:613862	RP1	6101	HP:0007401	Macular atrophy
OMIM:613862	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613862	RP1	6101	HP:0000543	Optic disc pallor
OMIM:613862	RP1	6101	HP:0000662	Nyctalopia
OMIM:613862	RP1	6101	HP:0000529	Progressive visual loss
OMIM:613862	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613862	RP1	6101	HP:0200070	Peripheral retinal atrophy
OMIM:613862	RP2	6102	HP:0007401	Macular atrophy
OMIM:613862	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613862	RP2	6102	HP:0000543	Optic disc pallor
OMIM:613862	RP2	6102	HP:0000662	Nyctalopia
OMIM:613862	RP2	6102	HP:0000529	Progressive visual loss
OMIM:613862	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613862	RP2	6102	HP:0200070	Peripheral retinal atrophy
OMIM:613862	RPGR	6103	HP:0007401	Macular atrophy
OMIM:613862	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613862	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:613862	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613862	RPGR	6103	HP:0000529	Progressive visual loss
OMIM:613862	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613862	RPGR	6103	HP:0200070	Peripheral retinal atrophy
OMIM:613862	SEMA4A	64218	HP:0007401	Macular atrophy
OMIM:613862	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613862	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:613862	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613862	SEMA4A	64218	HP:0000529	Progressive visual loss
OMIM:613862	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613862	SEMA4A	64218	HP:0200070	Peripheral retinal atrophy
OMIM:613862	C8ORF37	157657	HP:0007401	Macular atrophy
OMIM:613862	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613862	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:613862	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613862	C8ORF37	157657	HP:0000529	Progressive visual loss
OMIM:613862	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613862	C8ORF37	157657	HP:0200070	Peripheral retinal atrophy
OMIM:613862	IDH3B	3420	HP:0007401	Macular atrophy
OMIM:613862	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613862	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:613862	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613862	IDH3B	3420	HP:0000529	Progressive visual loss
OMIM:613862	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613862	IDH3B	3420	HP:0200070	Peripheral retinal atrophy
OMIM:613862	MERTK	10461	HP:0007401	Macular atrophy
OMIM:613862	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613862	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:613862	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613862	MERTK	10461	HP:0000529	Progressive visual loss
OMIM:613862	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613862	MERTK	10461	HP:0200070	Peripheral retinal atrophy
OMIM:613862	PRPF8	10594	HP:0007401	Macular atrophy
OMIM:613862	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613862	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:613862	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613862	PRPF8	10594	HP:0000529	Progressive visual loss
OMIM:613862	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613862	PRPF8	10594	HP:0200070	Peripheral retinal atrophy
OMIM:613862	TOPORS	10210	HP:0007401	Macular atrophy
OMIM:613862	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613862	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:613862	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613862	TOPORS	10210	HP:0000529	Progressive visual loss
OMIM:613862	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613862	TOPORS	10210	HP:0200070	Peripheral retinal atrophy
OMIM:613862	USH2A	7399	HP:0007401	Macular atrophy
OMIM:613862	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613862	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:613862	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613862	USH2A	7399	HP:0000529	Progressive visual loss
OMIM:613862	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613862	USH2A	7399	HP:0200070	Peripheral retinal atrophy
OMIM:613862	RPE65	6121	HP:0007401	Macular atrophy
OMIM:613862	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613862	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:613862	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613862	RPE65	6121	HP:0000529	Progressive visual loss
OMIM:613862	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613862	RPE65	6121	HP:0200070	Peripheral retinal atrophy
OMIM:613862	CLRN1	7401	HP:0007401	Macular atrophy
OMIM:613862	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613862	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:613862	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613862	CLRN1	7401	HP:0000529	Progressive visual loss
OMIM:613862	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613862	CLRN1	7401	HP:0200070	Peripheral retinal atrophy
OMIM:613862	CNGB1	1258	HP:0007401	Macular atrophy
OMIM:613862	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613862	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:613862	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613862	CNGB1	1258	HP:0000529	Progressive visual loss
OMIM:613862	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613862	CNGB1	1258	HP:0200070	Peripheral retinal atrophy
OMIM:613862	RGR	5995	HP:0007401	Macular atrophy
OMIM:613862	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613862	RGR	5995	HP:0000543	Optic disc pallor
OMIM:613862	RGR	5995	HP:0000662	Nyctalopia
OMIM:613862	RGR	5995	HP:0000529	Progressive visual loss
OMIM:613862	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613862	RGR	5995	HP:0200070	Peripheral retinal atrophy
OMIM:613862	CNGA1	1259	HP:0007401	Macular atrophy
OMIM:613862	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613862	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:613862	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613862	CNGA1	1259	HP:0000529	Progressive visual loss
OMIM:613862	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613862	CNGA1	1259	HP:0200070	Peripheral retinal atrophy
OMIM:613862	TUB	7275	HP:0007401	Macular atrophy
OMIM:613862	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613862	TUB	7275	HP:0000543	Optic disc pallor
OMIM:613862	TUB	7275	HP:0000662	Nyctalopia
OMIM:613862	TUB	7275	HP:0000529	Progressive visual loss
OMIM:613862	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613862	TUB	7275	HP:0200070	Peripheral retinal atrophy
OMIM:613862	SNRNP200	23020	HP:0007401	Macular atrophy
OMIM:613862	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613862	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:613862	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613862	SNRNP200	23020	HP:0000529	Progressive visual loss
OMIM:613862	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613862	SNRNP200	23020	HP:0200070	Peripheral retinal atrophy
OMIM:613862	SLC7A14	57709	HP:0007401	Macular atrophy
OMIM:613862	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613862	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:613862	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613862	SLC7A14	57709	HP:0000529	Progressive visual loss
OMIM:613862	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613862	SLC7A14	57709	HP:0200070	Peripheral retinal atrophy
OMIM:613862	TULP1	7287	HP:0007401	Macular atrophy
OMIM:613862	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613862	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:613862	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613862	TULP1	7287	HP:0000529	Progressive visual loss
OMIM:613862	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613862	TULP1	7287	HP:0200070	Peripheral retinal atrophy
OMIM:613862	RHO	6010	HP:0007401	Macular atrophy
OMIM:613862	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613862	RHO	6010	HP:0000543	Optic disc pallor
OMIM:613862	RHO	6010	HP:0000662	Nyctalopia
OMIM:613862	RHO	6010	HP:0000529	Progressive visual loss
OMIM:613862	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613862	RHO	6010	HP:0200070	Peripheral retinal atrophy
OMIM:613862	CA4	762	HP:0007401	Macular atrophy
OMIM:613862	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613862	CA4	762	HP:0000543	Optic disc pallor
OMIM:613862	CA4	762	HP:0000662	Nyctalopia
OMIM:613862	CA4	762	HP:0000529	Progressive visual loss
OMIM:613862	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613862	CA4	762	HP:0200070	Peripheral retinal atrophy
OMIM:613862	CRB1	23418	HP:0007401	Macular atrophy
OMIM:613862	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613862	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:613862	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613862	CRB1	23418	HP:0000529	Progressive visual loss
OMIM:613862	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613862	CRB1	23418	HP:0200070	Peripheral retinal atrophy
OMIM:613862	IMPG2	50939	HP:0007401	Macular atrophy
OMIM:613862	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613862	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:613862	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613862	IMPG2	50939	HP:0000529	Progressive visual loss
OMIM:613862	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613862	IMPG2	50939	HP:0200070	Peripheral retinal atrophy
OMIM:613862	ZNF513	130557	HP:0007401	Macular atrophy
OMIM:613862	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613862	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:613862	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613862	ZNF513	130557	HP:0000529	Progressive visual loss
OMIM:613862	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613862	ZNF513	130557	HP:0200070	Peripheral retinal atrophy
OMIM:613862	CRX	1406	HP:0007401	Macular atrophy
OMIM:613862	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613862	CRX	1406	HP:0000543	Optic disc pallor
OMIM:613862	CRX	1406	HP:0000662	Nyctalopia
OMIM:613862	CRX	1406	HP:0000529	Progressive visual loss
OMIM:613862	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613862	CRX	1406	HP:0200070	Peripheral retinal atrophy
OMIM:309541	HCFC1	3054	HP:0001252	Muscular hypotonia
OMIM:309541	HCFC1	3054	HP:0002305	Athetosis
OMIM:309541	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:309541	HCFC1	3054	HP:0002912	Methylmalonic acidemia
OMIM:309541	HCFC1	3054	HP:0001508	Failure to thrive
OMIM:309541	HCFC1	3054	HP:0001419	X-linked recessive inheritance
OMIM:309541	HCFC1	3054	HP:0000248	Brachycephaly
OMIM:309541	HCFC1	3054	HP:0002521	Hypsarrhythmia
OMIM:309541	HCFC1	3054	HP:0004322	Short stature
OMIM:309541	HCFC1	3054	HP:0002072	Chorea
OMIM:309541	HCFC1	3054	HP:0012120	Methylmalonic aciduria
OMIM:309541	HCFC1	3054	HP:0000252	Microcephaly
OMIM:309541	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:309541	HCFC1	3054	HP:0003593	Infantile onset
OMIM:613617	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:613617	RLBP1	6017	HP:0001141	Severe visual impairment
OMIM:613617	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613617	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	RLBP1	6017	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613617	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613617	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:613617	SPATA7	55812	HP:0001141	Severe visual impairment
OMIM:613617	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613617	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	SPATA7	55812	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613617	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613617	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:613617	ARL6	84100	HP:0001141	Severe visual impairment
OMIM:613617	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613617	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	ARL6	84100	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613617	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613617	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:613617	CERKL	375298	HP:0001141	Severe visual impairment
OMIM:613617	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613617	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	CERKL	375298	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613617	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613617	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:613617	PRPF31	26121	HP:0001141	Severe visual impairment
OMIM:613617	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613617	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	PRPF31	26121	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613617	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613617	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:613617	TTC8	123016	HP:0001141	Severe visual impairment
OMIM:613617	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613617	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	TTC8	123016	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613617	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613617	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:613617	PROM1	8842	HP:0001141	Severe visual impairment
OMIM:613617	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613617	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	PROM1	8842	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613617	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613617	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:613617	LRAT	9227	HP:0001141	Severe visual impairment
OMIM:613617	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613617	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	LRAT	9227	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613617	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613617	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:613617	IFT140	9742	HP:0001141	Severe visual impairment
OMIM:613617	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613617	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	IFT140	9742	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613617	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613617	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:613617	BEST1	7439	HP:0001141	Severe visual impairment
OMIM:613617	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613617	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	BEST1	7439	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613617	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613617	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:613617	NEK2	4751	HP:0001141	Severe visual impairment
OMIM:613617	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613617	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	NEK2	4751	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613617	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613617	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:613617	ARL2BP	23568	HP:0001141	Severe visual impairment
OMIM:613617	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613617	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	ARL2BP	23568	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613617	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613617	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:613617	NR2E3	10002	HP:0001141	Severe visual impairment
OMIM:613617	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613617	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	NR2E3	10002	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613617	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613617	EYS	346007	HP:0000543	Optic disc pallor
OMIM:613617	EYS	346007	HP:0001141	Severe visual impairment
OMIM:613617	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613617	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	EYS	346007	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613617	EYS	346007	HP:0000662	Nyctalopia
OMIM:613617	MAK	4117	HP:0000543	Optic disc pallor
OMIM:613617	MAK	4117	HP:0001141	Severe visual impairment
OMIM:613617	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613617	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	MAK	4117	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613617	MAK	4117	HP:0000662	Nyctalopia
OMIM:613617	SAG	6295	HP:0000543	Optic disc pallor
OMIM:613617	SAG	6295	HP:0001141	Severe visual impairment
OMIM:613617	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613617	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	SAG	6295	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613617	SAG	6295	HP:0000662	Nyctalopia
OMIM:613617	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:613617	ABCA4	24	HP:0001141	Severe visual impairment
OMIM:613617	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613617	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	ABCA4	24	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613617	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613617	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:613617	PDE6A	5145	HP:0001141	Severe visual impairment
OMIM:613617	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613617	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	PDE6A	5145	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613617	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613617	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:613617	PDE6G	5148	HP:0001141	Severe visual impairment
OMIM:613617	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613617	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	PDE6G	5148	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613617	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613617	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:613617	IMPDH1	3614	HP:0001141	Severe visual impairment
OMIM:613617	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613617	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	IMPDH1	3614	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613617	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613617	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:613617	OFD1	8481	HP:0001141	Severe visual impairment
OMIM:613617	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613617	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	OFD1	8481	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613617	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613617	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:613617	GUCA1B	2979	HP:0001141	Severe visual impairment
OMIM:613617	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613617	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	GUCA1B	2979	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613617	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613617	NRL	4901	HP:0000543	Optic disc pallor
OMIM:613617	NRL	4901	HP:0001141	Severe visual impairment
OMIM:613617	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613617	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	NRL	4901	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613617	NRL	4901	HP:0000662	Nyctalopia
OMIM:613617	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:613617	PDE6B	5158	HP:0001141	Severe visual impairment
OMIM:613617	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613617	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	PDE6B	5158	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613617	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613617	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:613617	KLHL7	55975	HP:0001141	Severe visual impairment
OMIM:613617	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613617	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	KLHL7	55975	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613617	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613617	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:613617	PRPF4	9128	HP:0001141	Severe visual impairment
OMIM:613617	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613617	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	PRPF4	9128	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613617	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613617	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:613617	PRPF3	9129	HP:0001141	Severe visual impairment
OMIM:613617	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613617	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	PRPF3	9129	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613617	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613617	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:613617	FAM161A	84140	HP:0001141	Severe visual impairment
OMIM:613617	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613617	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	FAM161A	84140	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613617	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613617	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:613617	IFT172	26160	HP:0001141	Severe visual impairment
OMIM:613617	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613617	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	IFT172	26160	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613617	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613617	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:613617	KIZ	55857	HP:0001141	Severe visual impairment
OMIM:613617	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613617	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	KIZ	55857	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613617	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613617	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:613617	CDHR1	92211	HP:0001141	Severe visual impairment
OMIM:613617	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613617	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	CDHR1	92211	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613617	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613617	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:613617	ZNF408	79797	HP:0001141	Severe visual impairment
OMIM:613617	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613617	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	ZNF408	79797	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613617	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613617	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:613617	RBP3	5949	HP:0001141	Severe visual impairment
OMIM:613617	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613617	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	RBP3	5949	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613617	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613617	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:613617	HGSNAT	138050	HP:0001141	Severe visual impairment
OMIM:613617	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613617	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	HGSNAT	138050	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613617	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613617	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:613617	FSCN2	25794	HP:0001141	Severe visual impairment
OMIM:613617	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613617	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	FSCN2	25794	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613617	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613617	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:613617	PRCD	768206	HP:0001141	Severe visual impairment
OMIM:613617	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613617	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	PRCD	768206	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613617	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613617	BBS2	583	HP:0000543	Optic disc pallor
OMIM:613617	BBS2	583	HP:0001141	Severe visual impairment
OMIM:613617	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613617	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	BBS2	583	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613617	BBS2	583	HP:0000662	Nyctalopia
OMIM:613617	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:613617	RDH12	145226	HP:0001141	Severe visual impairment
OMIM:613617	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613617	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	RDH12	145226	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613617	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613617	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:613617	PRPH2	5961	HP:0001141	Severe visual impairment
OMIM:613617	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613617	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	PRPH2	5961	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613617	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613617	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:613617	DHDDS	79947	HP:0001141	Severe visual impairment
OMIM:613617	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613617	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	DHDDS	79947	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613617	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613617	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:613617	ROM1	6094	HP:0001141	Severe visual impairment
OMIM:613617	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613617	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	ROM1	6094	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613617	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613617	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:613617	C2ORF71	388939	HP:0001141	Severe visual impairment
OMIM:613617	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613617	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	C2ORF71	388939	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613617	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613617	RP9	6100	HP:0000543	Optic disc pallor
OMIM:613617	RP9	6100	HP:0001141	Severe visual impairment
OMIM:613617	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613617	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	RP9	6100	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613617	RP9	6100	HP:0000662	Nyctalopia
OMIM:613617	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:613617	PRPF6	24148	HP:0001141	Severe visual impairment
OMIM:613617	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613617	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	PRPF6	24148	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613617	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613617	RP1	6101	HP:0000543	Optic disc pallor
OMIM:613617	RP1	6101	HP:0001141	Severe visual impairment
OMIM:613617	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613617	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	RP1	6101	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613617	RP1	6101	HP:0000662	Nyctalopia
OMIM:613617	RP2	6102	HP:0000543	Optic disc pallor
OMIM:613617	RP2	6102	HP:0001141	Severe visual impairment
OMIM:613617	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613617	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	RP2	6102	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613617	RP2	6102	HP:0000662	Nyctalopia
OMIM:613617	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:613617	RPGR	6103	HP:0001141	Severe visual impairment
OMIM:613617	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613617	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	RPGR	6103	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613617	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613617	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:613617	SEMA4A	64218	HP:0001141	Severe visual impairment
OMIM:613617	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613617	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	SEMA4A	64218	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613617	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613617	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:613617	C8ORF37	157657	HP:0001141	Severe visual impairment
OMIM:613617	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613617	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	C8ORF37	157657	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613617	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613617	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:613617	IDH3B	3420	HP:0001141	Severe visual impairment
OMIM:613617	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613617	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	IDH3B	3420	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613617	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613617	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:613617	MERTK	10461	HP:0001141	Severe visual impairment
OMIM:613617	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613617	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	MERTK	10461	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613617	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613617	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:613617	PRPF8	10594	HP:0001141	Severe visual impairment
OMIM:613617	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613617	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	PRPF8	10594	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613617	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613617	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:613617	TOPORS	10210	HP:0001141	Severe visual impairment
OMIM:613617	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613617	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	TOPORS	10210	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613617	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613617	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:613617	USH2A	7399	HP:0001141	Severe visual impairment
OMIM:613617	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613617	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	USH2A	7399	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613617	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613617	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:613617	RPE65	6121	HP:0001141	Severe visual impairment
OMIM:613617	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613617	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	RPE65	6121	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613617	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613617	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:613617	CLRN1	7401	HP:0001141	Severe visual impairment
OMIM:613617	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613617	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	CLRN1	7401	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613617	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613617	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:613617	CNGB1	1258	HP:0001141	Severe visual impairment
OMIM:613617	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613617	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	CNGB1	1258	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613617	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613617	RGR	5995	HP:0000543	Optic disc pallor
OMIM:613617	RGR	5995	HP:0001141	Severe visual impairment
OMIM:613617	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613617	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	RGR	5995	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613617	RGR	5995	HP:0000662	Nyctalopia
OMIM:613617	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:613617	CNGA1	1259	HP:0001141	Severe visual impairment
OMIM:613617	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613617	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	CNGA1	1259	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613617	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613617	TUB	7275	HP:0000543	Optic disc pallor
OMIM:613617	TUB	7275	HP:0001141	Severe visual impairment
OMIM:613617	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613617	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	TUB	7275	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613617	TUB	7275	HP:0000662	Nyctalopia
OMIM:613617	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:613617	SNRNP200	23020	HP:0001141	Severe visual impairment
OMIM:613617	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613617	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	SNRNP200	23020	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613617	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613617	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:613617	SLC7A14	57709	HP:0001141	Severe visual impairment
OMIM:613617	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613617	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	SLC7A14	57709	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613617	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613617	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:613617	TULP1	7287	HP:0001141	Severe visual impairment
OMIM:613617	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613617	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	TULP1	7287	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613617	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613617	RHO	6010	HP:0000543	Optic disc pallor
OMIM:613617	RHO	6010	HP:0001141	Severe visual impairment
OMIM:613617	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613617	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	RHO	6010	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613617	RHO	6010	HP:0000662	Nyctalopia
OMIM:613617	CA4	762	HP:0000543	Optic disc pallor
OMIM:613617	CA4	762	HP:0001141	Severe visual impairment
OMIM:613617	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613617	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	CA4	762	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613617	CA4	762	HP:0000662	Nyctalopia
OMIM:613617	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:613617	CRB1	23418	HP:0001141	Severe visual impairment
OMIM:613617	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613617	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	CRB1	23418	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613617	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613617	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:613617	IMPG2	50939	HP:0001141	Severe visual impairment
OMIM:613617	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613617	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	IMPG2	50939	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613617	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613617	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:613617	ZNF513	130557	HP:0001141	Severe visual impairment
OMIM:613617	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613617	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	ZNF513	130557	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613617	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613617	CRX	1406	HP:0000543	Optic disc pallor
OMIM:613617	CRX	1406	HP:0001141	Severe visual impairment
OMIM:613617	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613617	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:613617	CRX	1406	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613617	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613617	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613617	CRX	1406	HP:0000662	Nyctalopia
OMIM:608393	ASPM	259266	HP:0000252	Microcephaly
OMIM:608393	ASPM	259266	HP:0002342	Intellectual disability, moderate
OMIM:608393	ASPM	259266	HP:0001425	Heterogeneous
OMIM:608393	ASPM	259266	HP:0000007	Autosomal recessive inheritance
OMIM:608393	ASPM	259266	HP:0003577	Congenital onset
OMIM:608393	MCPH1	79648	HP:0000252	Microcephaly
OMIM:608393	MCPH1	79648	HP:0002342	Intellectual disability, moderate
OMIM:608393	MCPH1	79648	HP:0001425	Heterogeneous
OMIM:608393	MCPH1	79648	HP:0000007	Autosomal recessive inheritance
OMIM:608393	MCPH1	79648	HP:0003577	Congenital onset
OMIM:608393	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:608393	ANKLE2	23141	HP:0002342	Intellectual disability, moderate
OMIM:608393	ANKLE2	23141	HP:0001425	Heterogeneous
OMIM:608393	ANKLE2	23141	HP:0000007	Autosomal recessive inheritance
OMIM:608393	ANKLE2	23141	HP:0003577	Congenital onset
OMIM:608393	SASS6	163786	HP:0000252	Microcephaly
OMIM:608393	SASS6	163786	HP:0002342	Intellectual disability, moderate
OMIM:608393	SASS6	163786	HP:0001425	Heterogeneous
OMIM:608393	SASS6	163786	HP:0000007	Autosomal recessive inheritance
OMIM:608393	SASS6	163786	HP:0003577	Congenital onset
OMIM:608393	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:608393	CDK5RAP2	55755	HP:0002342	Intellectual disability, moderate
OMIM:608393	CDK5RAP2	55755	HP:0001425	Heterogeneous
OMIM:608393	CDK5RAP2	55755	HP:0000007	Autosomal recessive inheritance
OMIM:608393	CDK5RAP2	55755	HP:0003577	Congenital onset
OMIM:608393	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:608393	MFSD2A	84879	HP:0002342	Intellectual disability, moderate
OMIM:608393	MFSD2A	84879	HP:0001425	Heterogeneous
OMIM:608393	MFSD2A	84879	HP:0000007	Autosomal recessive inheritance
OMIM:608393	MFSD2A	84879	HP:0003577	Congenital onset
OMIM:608393	CEP152	22995	HP:0000252	Microcephaly
OMIM:608393	CEP152	22995	HP:0002342	Intellectual disability, moderate
OMIM:608393	CEP152	22995	HP:0001425	Heterogeneous
OMIM:608393	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:608393	CEP152	22995	HP:0003577	Congenital onset
OMIM:608393	WDR62	284403	HP:0000252	Microcephaly
OMIM:608393	WDR62	284403	HP:0002342	Intellectual disability, moderate
OMIM:608393	WDR62	284403	HP:0001425	Heterogeneous
OMIM:608393	WDR62	284403	HP:0000007	Autosomal recessive inheritance
OMIM:608393	WDR62	284403	HP:0003577	Congenital onset
OMIM:608393	PHC1	1911	HP:0000252	Microcephaly
OMIM:608393	PHC1	1911	HP:0002342	Intellectual disability, moderate
OMIM:608393	PHC1	1911	HP:0001425	Heterogeneous
OMIM:608393	PHC1	1911	HP:0000007	Autosomal recessive inheritance
OMIM:608393	PHC1	1911	HP:0003577	Congenital onset
OMIM:608393	CASC5	57082	HP:0000252	Microcephaly
OMIM:608393	CASC5	57082	HP:0002342	Intellectual disability, moderate
OMIM:608393	CASC5	57082	HP:0001425	Heterogeneous
OMIM:608393	CASC5	57082	HP:0000007	Autosomal recessive inheritance
OMIM:608393	CASC5	57082	HP:0003577	Congenital onset
OMIM:608393	CENPJ	55835	HP:0000252	Microcephaly
OMIM:608393	CENPJ	55835	HP:0002342	Intellectual disability, moderate
OMIM:608393	CENPJ	55835	HP:0001425	Heterogeneous
OMIM:608393	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:608393	CENPJ	55835	HP:0003577	Congenital onset
OMIM:608393	STIL	6491	HP:0000252	Microcephaly
OMIM:608393	STIL	6491	HP:0002342	Intellectual disability, moderate
OMIM:608393	STIL	6491	HP:0001425	Heterogeneous
OMIM:608393	STIL	6491	HP:0000007	Autosomal recessive inheritance
OMIM:608393	STIL	6491	HP:0003577	Congenital onset
OMIM:608393	CDK6	1021	HP:0000252	Microcephaly
OMIM:608393	CDK6	1021	HP:0002342	Intellectual disability, moderate
OMIM:608393	CDK6	1021	HP:0001425	Heterogeneous
OMIM:608393	CDK6	1021	HP:0000007	Autosomal recessive inheritance
OMIM:608393	CDK6	1021	HP:0003577	Congenital onset
OMIM:608393	CEP135	9662	HP:0000252	Microcephaly
OMIM:608393	CEP135	9662	HP:0002342	Intellectual disability, moderate
OMIM:608393	CEP135	9662	HP:0001425	Heterogeneous
OMIM:608393	CEP135	9662	HP:0000007	Autosomal recessive inheritance
OMIM:608393	CEP135	9662	HP:0003577	Congenital onset
OMIM:608393	CEP63	80254	HP:0000252	Microcephaly
OMIM:608393	CEP63	80254	HP:0002342	Intellectual disability, moderate
OMIM:608393	CEP63	80254	HP:0001425	Heterogeneous
OMIM:608393	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:608393	CEP63	80254	HP:0003577	Congenital onset
OMIM:614257	MBD5	55777	HP:0001249	Intellectual disability
OMIM:614257	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:614257	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:614257	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:614257	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:614257	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:614257	KIF1A	547	HP:0001249	Intellectual disability
OMIM:614257	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:614257	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:614257	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:614257	TCF4	6925	HP:0001249	Intellectual disability
OMIM:614257	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:614257	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:614257	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:614257	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:614257	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:614257	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:614257	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:614257	CDH15	1013	HP:0001249	Intellectual disability
OMIM:614257	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:614257	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:614257	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:614257	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:614257	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:614257	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:614257	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:614257	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:614257	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:133100	SH2B3	10019	HP:0000421	Epistaxis
OMIM:133100	SH2B3	10019	HP:0002321	Vertigo
OMIM:133100	SH2B3	10019	HP:0001744	Splenomegaly
OMIM:133100	SH2B3	10019	HP:0002027	Abdominal pain
OMIM:133100	SH2B3	10019	HP:0001877	Abnormality of erythrocytes
OMIM:133100	SH2B3	10019	HP:0002637	Cerebral ischemia
OMIM:133100	SH2B3	10019	HP:0000989	Pruritus
OMIM:133100	SH2B3	10019	HP:0002104	Apnea
OMIM:133100	SH2B3	10019	HP:0000822	Hypertension
OMIM:133100	SH2B3	10019	HP:0001658	Myocardial infarction
OMIM:133100	SH2B3	10019	HP:0000006	Autosomal dominant inheritance
OMIM:133100	SH2B3	10019	HP:0004418	Thrombophlebitis
OMIM:133100	SH2B3	10019	HP:0002829	Arthralgia
OMIM:133100	SH2B3	10019	HP:0002093	Respiratory insufficiency
OMIM:133100	SH2B3	10019	HP:0002076	Migraine
OMIM:133100	SH2B3	10019	HP:0002315	Headache
OMIM:133100	SH2B3	10019	HP:0001928	Abnormality of coagulation
OMIM:133100	JAK2	3717	HP:0000421	Epistaxis
OMIM:133100	JAK2	3717	HP:0002321	Vertigo
OMIM:133100	JAK2	3717	HP:0001744	Splenomegaly
OMIM:133100	JAK2	3717	HP:0002027	Abdominal pain
OMIM:133100	JAK2	3717	HP:0001877	Abnormality of erythrocytes
OMIM:133100	JAK2	3717	HP:0002637	Cerebral ischemia
OMIM:133100	JAK2	3717	HP:0000989	Pruritus
OMIM:133100	JAK2	3717	HP:0002104	Apnea
OMIM:133100	JAK2	3717	HP:0000822	Hypertension
OMIM:133100	JAK2	3717	HP:0001658	Myocardial infarction
OMIM:133100	JAK2	3717	HP:0000006	Autosomal dominant inheritance
OMIM:133100	JAK2	3717	HP:0004418	Thrombophlebitis
OMIM:133100	JAK2	3717	HP:0002829	Arthralgia
OMIM:133100	JAK2	3717	HP:0002093	Respiratory insufficiency
OMIM:133100	JAK2	3717	HP:0002076	Migraine
OMIM:133100	JAK2	3717	HP:0002315	Headache
OMIM:133100	JAK2	3717	HP:0001928	Abnormality of coagulation
OMIM:133100	EPOR	2057	HP:0000421	Epistaxis
OMIM:133100	EPOR	2057	HP:0002321	Vertigo
OMIM:133100	EPOR	2057	HP:0001744	Splenomegaly
OMIM:133100	EPOR	2057	HP:0002027	Abdominal pain
OMIM:133100	EPOR	2057	HP:0001877	Abnormality of erythrocytes
OMIM:133100	EPOR	2057	HP:0002637	Cerebral ischemia
OMIM:133100	EPOR	2057	HP:0000989	Pruritus
OMIM:133100	EPOR	2057	HP:0002104	Apnea
OMIM:133100	EPOR	2057	HP:0000822	Hypertension
OMIM:133100	EPOR	2057	HP:0001658	Myocardial infarction
OMIM:133100	EPOR	2057	HP:0000006	Autosomal dominant inheritance
OMIM:133100	EPOR	2057	HP:0004418	Thrombophlebitis
OMIM:133100	EPOR	2057	HP:0002829	Arthralgia
OMIM:133100	EPOR	2057	HP:0002093	Respiratory insufficiency
OMIM:133100	EPOR	2057	HP:0002076	Migraine
OMIM:133100	EPOR	2057	HP:0002315	Headache
OMIM:133100	EPOR	2057	HP:0001928	Abnormality of coagulation
OMIM:610250	REEP1	65055	HP:0011448	Ankle clonus
OMIM:610250	REEP1	65055	HP:0007340	Lower limb muscle weakness
OMIM:610250	REEP1	65055	HP:0002015	Dysphagia
OMIM:610250	REEP1	65055	HP:0001258	Spastic paraplegia
OMIM:610250	REEP1	65055	HP:0001260	Dysarthria
OMIM:610250	REEP1	65055	HP:0003828	Variable expressivity
OMIM:610250	REEP1	65055	HP:0000012	Urinary urgency
OMIM:610250	REEP1	65055	HP:0002936	Distal sensory impairment
OMIM:610250	REEP1	65055	HP:0003202	Skeletal muscle atrophy
OMIM:610250	REEP1	65055	HP:0003487	Babinski sign
OMIM:610250	REEP1	65055	HP:0000006	Autosomal dominant inheritance
OMIM:610250	REEP1	65055	HP:0001761	Pes cavus
OMIM:610250	REEP1	65055	HP:0002064	Spastic gait
OMIM:615274	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:615274	CRYBA2	1412	HP:0000518	Cataract
OMIM:615274	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:615274	AGK	55750	HP:0000518	Cataract
OMIM:615274	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:615274	GCNT2	2651	HP:0000518	Cataract
OMIM:615274	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:615274	MIP	4284	HP:0000518	Cataract
OMIM:615935	PDX1	3651	HP:0001518	Small for gestational age
OMIM:615935	PDX1	3651	HP:0002570	Steatorrhea
OMIM:615935	PTF1A	256297	HP:0001518	Small for gestational age
OMIM:615935	PTF1A	256297	HP:0002570	Steatorrhea
OMIM:616481	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
OMIM:616481	DNAAF2	55172	HP:0012263	Immotile cilia
OMIM:616481	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:616481	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:616481	CCNO	10309	HP:0012263	Immotile cilia
OMIM:616481	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:616481	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
OMIM:616481	DNAAF5	54919	HP:0012263	Immotile cilia
OMIM:616481	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:616481	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:616481	DNAAF3	352909	HP:0012263	Immotile cilia
OMIM:616481	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:616481	DNAI1	27019	HP:0002205	Recurrent respiratory infections
OMIM:616481	DNAI1	27019	HP:0012263	Immotile cilia
OMIM:616481	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:616481	DRC1	92749	HP:0002205	Recurrent respiratory infections
OMIM:616481	DRC1	92749	HP:0012263	Immotile cilia
OMIM:616481	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:616481	SPAG1	6674	HP:0002205	Recurrent respiratory infections
OMIM:616481	SPAG1	6674	HP:0012263	Immotile cilia
OMIM:616481	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:616481	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:616481	RSPH3	83861	HP:0012263	Immotile cilia
OMIM:616481	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:616481	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:616481	RPGR	6103	HP:0012263	Immotile cilia
OMIM:616481	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:616481	LRRC6	23639	HP:0002205	Recurrent respiratory infections
OMIM:616481	LRRC6	23639	HP:0012263	Immotile cilia
OMIM:616481	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:616481	DNAL1	83544	HP:0002205	Recurrent respiratory infections
OMIM:616481	DNAL1	83544	HP:0012263	Immotile cilia
OMIM:616481	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:616481	ARMC4	55130	HP:0002205	Recurrent respiratory infections
OMIM:616481	ARMC4	55130	HP:0012263	Immotile cilia
OMIM:616481	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:616481	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:616481	CCDC103	388389	HP:0012263	Immotile cilia
OMIM:616481	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:616481	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:616481	OFD1	8481	HP:0012263	Immotile cilia
OMIM:616481	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:616481	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
OMIM:616481	DNAAF1	123872	HP:0012263	Immotile cilia
OMIM:616481	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:616481	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
OMIM:616481	RSPH4A	345895	HP:0012263	Immotile cilia
OMIM:616481	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:616481	RSPH1	89765	HP:0002205	Recurrent respiratory infections
OMIM:616481	RSPH1	89765	HP:0012263	Immotile cilia
OMIM:616481	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:616481	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
OMIM:616481	ZMYND10	51364	HP:0012263	Immotile cilia
OMIM:616481	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:616481	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:616481	DNAH5	1767	HP:0012263	Immotile cilia
OMIM:616481	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:616481	CCDC65	85478	HP:0002205	Recurrent respiratory infections
OMIM:616481	CCDC65	85478	HP:0012263	Immotile cilia
OMIM:616481	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:616481	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
OMIM:616481	C21ORF59	56683	HP:0012263	Immotile cilia
OMIM:616481	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:616481	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
OMIM:616481	DYX1C1	161582	HP:0012263	Immotile cilia
OMIM:616481	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:616481	CCDC151	115948	HP:0002205	Recurrent respiratory infections
OMIM:616481	CCDC151	115948	HP:0012263	Immotile cilia
OMIM:616481	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:616481	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:616481	RSPH9	221421	HP:0012263	Immotile cilia
OMIM:616481	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:616481	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:616481	CCDC39	339829	HP:0012263	Immotile cilia
OMIM:616481	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:616481	HYDIN	54768	HP:0002205	Recurrent respiratory infections
OMIM:616481	HYDIN	54768	HP:0012263	Immotile cilia
OMIM:616481	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:616481	CCDC114	93233	HP:0002205	Recurrent respiratory infections
OMIM:616481	CCDC114	93233	HP:0012263	Immotile cilia
OMIM:616481	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:616481	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:616481	NME8	51314	HP:0012263	Immotile cilia
OMIM:616481	NME8	51314	HP:0002110	Bronchiectasis
OMIM:616481	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:616481	CCDC40	55036	HP:0012263	Immotile cilia
OMIM:616481	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:616481	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:616481	DNAH11	8701	HP:0012263	Immotile cilia
OMIM:616481	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:616481	DNAI2	64446	HP:0002205	Recurrent respiratory infections
OMIM:616481	DNAI2	64446	HP:0012263	Immotile cilia
OMIM:616481	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:616481	GAS8	2622	HP:0002205	Recurrent respiratory infections
OMIM:616481	GAS8	2622	HP:0012263	Immotile cilia
OMIM:616481	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:202110	CYP17A1	1586	HP:0000037	Male pseudohermaphroditism
OMIM:202110	CYP17A1	1586	HP:0008221	Adrenal hyperplasia
OMIM:202110	CYP17A1	1586	HP:0000062	Ambiguous genitalia
OMIM:202110	CYP17A1	1586	HP:0000007	Autosomal recessive inheritance
OMIM:202110	CYP17A1	1586	HP:0000786	Primary amenorrhea
OMIM:202110	CYP17A1	1586	HP:0000822	Hypertension
OMIM:202110	CYB5A	1528	HP:0000037	Male pseudohermaphroditism
OMIM:202110	CYB5A	1528	HP:0008221	Adrenal hyperplasia
OMIM:202110	CYB5A	1528	HP:0000062	Ambiguous genitalia
OMIM:202110	CYB5A	1528	HP:0000007	Autosomal recessive inheritance
OMIM:202110	CYB5A	1528	HP:0000786	Primary amenorrhea
OMIM:202110	CYB5A	1528	HP:0000822	Hypertension
OMIM:160800	CLCN1	1180	HP:0003712	Skeletal muscle hypertrophy
OMIM:160800	CLCN1	1180	HP:0003812	Phenotypic variability
OMIM:160800	CLCN1	1180	HP:0000006	Autosomal dominant inheritance
OMIM:160800	CLCN1	1180	HP:0003326	Myalgia
OMIM:615565	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:615565	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:615565	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:615565	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:615565	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:615565	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615565	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:615565	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:615565	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:615565	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:615565	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615565	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:615565	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:615565	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:615565	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:615565	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:615565	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:615565	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:615565	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:615565	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:615565	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:615565	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:615565	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:615565	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:615565	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:615565	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:615565	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:615565	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:615565	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:615565	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:615565	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:615565	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:615565	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:615565	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:615565	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:615565	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:615565	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615565	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:615565	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:615565	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:615565	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:615565	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:615565	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:615565	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:615565	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:615565	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:615565	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:615565	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:615565	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:615565	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:615565	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615565	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:615565	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:615565	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:615565	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:615565	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:615565	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:615565	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:615565	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:615565	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:615565	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:615565	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:615565	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:615565	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:615565	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:615565	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615565	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:615565	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:615565	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:615565	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:615565	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:615565	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:615565	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:615565	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:615565	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:615565	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:615565	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:615565	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:615565	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:615565	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:615565	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:615565	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:615565	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615565	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:615565	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:615565	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:615565	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:615565	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:615565	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:615565	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:615565	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:615565	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:615565	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:615565	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:615565	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:615565	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:615565	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:615565	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:615565	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:615565	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:615565	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:615565	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:615565	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:615565	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:615565	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:615565	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:615565	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:615565	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:615565	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:615565	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:615565	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:615565	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:615565	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:615565	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:615565	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:615565	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:615565	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:615565	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:615565	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:615565	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:615565	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:615565	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:615565	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:615565	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:615565	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:615565	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:615565	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:190350	TRPS1	7227	HP:0000670	Carious teeth
OMIM:190350	TRPS1	7227	HP:0002758	Osteoarthritis
OMIM:190350	TRPS1	7227	HP:0000219	Thin upper lip vermilion
OMIM:190350	TRPS1	7227	HP:0010743	Short metatarsal
OMIM:190350	TRPS1	7227	HP:0002213	Fine hair
OMIM:190350	TRPS1	7227	HP:0000689	Dental malocclusion
OMIM:190350	TRPS1	7227	HP:0000400	Macrotia
OMIM:190350	TRPS1	7227	HP:0003691	Scapular winging
OMIM:190350	TRPS1	7227	HP:0004322	Short stature
OMIM:190350	TRPS1	7227	HP:0002650	Scoliosis
OMIM:190350	TRPS1	7227	HP:0000343	Long philtrum
OMIM:190350	TRPS1	7227	HP:0000768	Pectus carinatum
OMIM:190350	TRPS1	7227	HP:0001763	Pes planus
OMIM:190350	TRPS1	7227	HP:0001816	Thin nail
OMIM:190350	TRPS1	7227	HP:0002205	Recurrent respiratory infections
OMIM:190350	TRPS1	7227	HP:0008070	Sparse hair
OMIM:190350	TRPS1	7227	HP:0005338	Sparse lateral eyebrow
OMIM:190350	TRPS1	7227	HP:0000189	Narrow palate
OMIM:190350	TRPS1	7227	HP:0010049	Short metacarpal
OMIM:190350	TRPS1	7227	HP:0000006	Autosomal dominant inheritance
OMIM:190350	TRPS1	7227	HP:0002217	Slow-growing hair
OMIM:190350	TRPS1	7227	HP:0000347	Micrognathia
OMIM:190350	TRPS1	7227	HP:0000684	Delayed eruption of teeth
OMIM:190350	TRPS1	7227	HP:0000938	Osteopenia
OMIM:190350	TRPS1	7227	HP:0000691	Microdontia
OMIM:190350	TRPS1	7227	HP:0002829	Arthralgia
OMIM:190350	TRPS1	7227	HP:0002750	Delayed skeletal maturation
OMIM:190350	TRPS1	7227	HP:0000411	Protruding ear
OMIM:190350	TRPS1	7227	HP:0003307	Hyperlordosis
OMIM:175100	APC	324	HP:0000006	Autosomal dominant inheritance
OMIM:175100	APC	324	HP:0100273	Neoplasm of the colon
OMIM:175100	APC	324	HP:0200008	Intestinal polyposis
OMIM:175100	APC	324	HP:0002885	Medulloblastoma
OMIM:175100	APC	324	HP:0004375	Neoplasm of the nervous system
OMIM:175100	APC	324	HP:0000670	Carious teeth
OMIM:175100	APC	324	HP:0002895	Papillary thyroid carcinoma
OMIM:175100	APC	324	HP:0200040	Epidermoid cyst
OMIM:175100	APC	324	HP:0004394	Multiple gastric polyps
OMIM:175100	APC	324	HP:0000684	Delayed eruption of teeth
OMIM:175100	APC	324	HP:0007400	Irregular hyperpigmentation
OMIM:175100	APC	324	HP:0100242	Sarcoma
OMIM:175100	APC	324	HP:0000953	Hyperpigmentation of the skin
OMIM:175100	APC	324	HP:0009592	Astrocytoma
OMIM:175100	APC	324	HP:0100246	Osteoma
OMIM:175100	APC	324	HP:0003828	Variable expressivity
OMIM:605637	MYH2	4620	HP:0000467	Neck muscle weakness
OMIM:605637	MYH2	4620	HP:0002650	Scoliosis
OMIM:605637	MYH2	4620	HP:0002460	Distal muscle weakness
OMIM:605637	MYH2	4620	HP:0003701	Proximal muscle weakness
OMIM:605637	MYH2	4620	HP:0000218	High palate
OMIM:605637	MYH2	4620	HP:0000508	Ptosis
OMIM:605637	MYH2	4620	HP:0003198	Myopathy
OMIM:605637	MYH2	4620	HP:0003324	Generalized muscle weakness
OMIM:605637	MYH2	4620	HP:0002515	Waddling gait
OMIM:605637	MYH2	4620	HP:0000007	Autosomal recessive inheritance
OMIM:605637	MYH2	4620	HP:0003691	Scapular winging
ORPHANET:2442	SH2D1A	4068	HP:0005374	Cellular immunodeficiency
ORPHANET:2442	SH2D1A	4068	HP:0004313	Decreased antibody level in blood
ORPHANET:2442	SH2D1A	4068	HP:0001744	Splenomegaly
ORPHANET:2442	SH2D1A	4068	HP:0002665	Lymphoma
ORPHANET:2442	SH2D1A	4068	HP:0002240	Hepatomegaly
ORPHANET:2442	SH2D1A	4068	HP:0002716	Lymphadenopathy
ORPHANET:2442	SH2D1A	4068	HP:0001903	Anemia
ORPHANET:2442	XIAP	331	HP:0005374	Cellular immunodeficiency
ORPHANET:2442	XIAP	331	HP:0004313	Decreased antibody level in blood
ORPHANET:2442	XIAP	331	HP:0001744	Splenomegaly
ORPHANET:2442	XIAP	331	HP:0002665	Lymphoma
ORPHANET:2442	XIAP	331	HP:0002240	Hepatomegaly
ORPHANET:2442	XIAP	331	HP:0002716	Lymphadenopathy
ORPHANET:2442	XIAP	331	HP:0001903	Anemia
OMIM:609311	FGD4	121512	HP:0001284	Areflexia
OMIM:609311	FGD4	121512	HP:0003431	Decreased motor nerve conduction velocity
OMIM:609311	FGD4	121512	HP:0008944	Distal lower limb amyotrophy
OMIM:609311	FGD4	121512	HP:0003383	Onion bulb formation
OMIM:609311	FGD4	121512	HP:0001270	Motor delay
OMIM:609311	FGD4	121512	HP:0009053	Distal lower limb muscle weakness
OMIM:609311	FGD4	121512	HP:0011096	Peripheral demyelination
OMIM:609311	FGD4	121512	HP:0001762	Talipes equinovarus
OMIM:609311	FGD4	121512	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:609311	FGD4	121512	HP:0001761	Pes cavus
OMIM:609311	FGD4	121512	HP:0001265	Hyporeflexia
OMIM:609311	FGD4	121512	HP:0002650	Scoliosis
OMIM:609311	FGD4	121512	HP:0003593	Infantile onset
OMIM:609311	FGD4	121512	HP:0002936	Distal sensory impairment
OMIM:609311	FGD4	121512	HP:0002515	Waddling gait
OMIM:609311	FGD4	121512	HP:0000007	Autosomal recessive inheritance
OMIM:607876	CNTN2	6900	HP:0000643	Blepharospasm
OMIM:607876	CNTN2	6900	HP:0000006	Autosomal dominant inheritance
OMIM:607876	CNTN2	6900	HP:0001336	Myoclonus
OMIM:607876	CNTN2	6900	HP:0003680	Nonprogressive
OMIM:607876	CNTN2	6900	HP:0001337	Tremor
OMIM:607876	CNTN2	6900	HP:0003581	Adult onset
OMIM:607876	CNTN2	6900	HP:0002069	Generalized tonic-clonic seizures
OMIM:607876	CNTN2	6900	HP:0001249	Intellectual disability
OMIM:607876	CNTN2	6900	HP:0100543	Cognitive impairment
OMIM:607876	ADRA2B	151	HP:0000643	Blepharospasm
OMIM:607876	ADRA2B	151	HP:0000006	Autosomal dominant inheritance
OMIM:607876	ADRA2B	151	HP:0001336	Myoclonus
OMIM:607876	ADRA2B	151	HP:0003680	Nonprogressive
OMIM:607876	ADRA2B	151	HP:0001337	Tremor
OMIM:607876	ADRA2B	151	HP:0003581	Adult onset
OMIM:607876	ADRA2B	151	HP:0002069	Generalized tonic-clonic seizures
OMIM:607876	ADRA2B	151	HP:0001249	Intellectual disability
OMIM:607876	ADRA2B	151	HP:0100543	Cognitive impairment
OMIM:615281	DARS	1615	HP:0003593	Infantile onset
OMIM:615281	DARS	1615	HP:0000639	Nystagmus
OMIM:615281	DARS	1615	HP:0001257	Spasticity
OMIM:615281	DARS	1615	HP:0001270	Motor delay
OMIM:615281	DARS	1615	HP:0001256	Intellectual disability, mild
OMIM:615281	DARS	1615	HP:0003676	Progressive
OMIM:615281	DARS	1615	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615281	DARS	1615	HP:0003429	CNS hypomyelination
OMIM:615281	DARS	1615	HP:0001347	Hyperreflexia
OMIM:615281	DARS	1615	HP:0000007	Autosomal recessive inheritance
OMIM:615281	DARS	1615	HP:0002352	Leukoencephalopathy
OMIM:615281	DARS	1615	HP:0003487	Babinski sign
OMIM:615281	DARS	1615	HP:0008936	Muscular hypotonia of the trunk
OMIM:611390	MARS2	92935	HP:0001272	Cerebellar atrophy
OMIM:611390	MARS2	92935	HP:0001260	Dysarthria
OMIM:611390	MARS2	92935	HP:0001257	Spasticity
OMIM:611390	MARS2	92935	HP:0100543	Cognitive impairment
OMIM:611390	MARS2	92935	HP:0002650	Scoliosis
OMIM:611390	MARS2	92935	HP:0001332	Dystonia
OMIM:611390	MARS2	92935	HP:0001347	Hyperreflexia
OMIM:611390	MARS2	92935	HP:0002352	Leukoencephalopathy
OMIM:611390	MARS2	92935	HP:0002120	Cerebral cortical atrophy
OMIM:611390	MARS2	92935	HP:0001310	Dysmetria
OMIM:611390	MARS2	92935	HP:0000365	Hearing impairment
OMIM:611390	MARS2	92935	HP:0000007	Autosomal recessive inheritance
OMIM:611390	MARS2	92935	HP:0002066	Gait ataxia
OMIM:611390	MARS2	92935	HP:0000012	Urinary urgency
OMIM:222300	CISD2	493856	HP:0000821	Hypothyroidism
OMIM:222300	CISD2	493856	HP:0001889	Megaloblastic anemia
OMIM:222300	CISD2	493856	HP:0000580	Pigmentary retinopathy
OMIM:222300	CISD2	493856	HP:0000072	Hydroureter
OMIM:222300	CISD2	493856	HP:0000126	Hydronephrosis
OMIM:222300	CISD2	493856	HP:0001249	Intellectual disability
OMIM:222300	CISD2	493856	HP:0000639	Nystagmus
OMIM:222300	CISD2	493856	HP:0002015	Dysphagia
OMIM:222300	CISD2	493856	HP:0000007	Autosomal recessive inheritance
OMIM:222300	CISD2	493856	HP:0000407	Sensorineural hearing impairment
OMIM:222300	CISD2	493856	HP:0000508	Ptosis
OMIM:222300	CISD2	493856	HP:0000708	Behavioral abnormality
OMIM:222300	CISD2	493856	HP:0001260	Dysarthria
OMIM:222300	CISD2	493856	HP:0001250	Seizures
OMIM:222300	CISD2	493856	HP:0001510	Growth delay
OMIM:222300	CISD2	493856	HP:0001638	Cardiomyopathy
OMIM:222300	CISD2	493856	HP:0000648	Optic atrophy
OMIM:222300	CISD2	493856	HP:0002059	Cerebral atrophy
OMIM:222300	CISD2	493856	HP:0001337	Tremor
OMIM:222300	CISD2	493856	HP:0000819	Diabetes mellitus
OMIM:222300	CISD2	493856	HP:0001873	Thrombocytopenia
OMIM:222300	CISD2	493856	HP:0000873	Diabetes insipidus
OMIM:222300	CISD2	493856	HP:0001251	Ataxia
OMIM:222300	WFS1	7466	HP:0000821	Hypothyroidism
OMIM:222300	WFS1	7466	HP:0001889	Megaloblastic anemia
OMIM:222300	WFS1	7466	HP:0000580	Pigmentary retinopathy
OMIM:222300	WFS1	7466	HP:0000072	Hydroureter
OMIM:222300	WFS1	7466	HP:0000126	Hydronephrosis
OMIM:222300	WFS1	7466	HP:0001249	Intellectual disability
OMIM:222300	WFS1	7466	HP:0000639	Nystagmus
OMIM:222300	WFS1	7466	HP:0002015	Dysphagia
OMIM:222300	WFS1	7466	HP:0000007	Autosomal recessive inheritance
OMIM:222300	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:222300	WFS1	7466	HP:0000508	Ptosis
OMIM:222300	WFS1	7466	HP:0000708	Behavioral abnormality
OMIM:222300	WFS1	7466	HP:0001260	Dysarthria
OMIM:222300	WFS1	7466	HP:0001250	Seizures
OMIM:222300	WFS1	7466	HP:0001510	Growth delay
OMIM:222300	WFS1	7466	HP:0001638	Cardiomyopathy
OMIM:222300	WFS1	7466	HP:0000648	Optic atrophy
OMIM:222300	WFS1	7466	HP:0002059	Cerebral atrophy
OMIM:222300	WFS1	7466	HP:0001337	Tremor
OMIM:222300	WFS1	7466	HP:0000819	Diabetes mellitus
OMIM:222300	WFS1	7466	HP:0001873	Thrombocytopenia
OMIM:222300	WFS1	7466	HP:0000873	Diabetes insipidus
OMIM:222300	WFS1	7466	HP:0001251	Ataxia
OMIM:613079	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:613079	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:613079	BSND	7809	HP:0000365	Hearing impairment
OMIM:613079	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:613079	ESPN	83715	HP:0000365	Hearing impairment
OMIM:613079	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:613079	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:613079	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:613079	OTOA	146183	HP:0000365	Hearing impairment
OMIM:613079	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:613079	GJA1	2697	HP:0000365	Hearing impairment
OMIM:613079	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:613079	MET	4233	HP:0000365	Hearing impairment
OMIM:613079	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:613079	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:613079	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:613079	HGF	3082	HP:0000365	Hearing impairment
OMIM:613079	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:613079	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:613079	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:613079	EPS8	2059	HP:0000365	Hearing impairment
OMIM:613079	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:613079	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:613079	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:613079	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:613079	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:613079	GJB2	2706	HP:0000365	Hearing impairment
OMIM:613079	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:613079	GJB3	2707	HP:0000365	Hearing impairment
OMIM:613079	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:613079	CABP2	51475	HP:0000365	Hearing impairment
OMIM:613079	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:613079	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:613079	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:613079	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:613079	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:613079	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:613079	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:613079	CIB2	10518	HP:0000365	Hearing impairment
OMIM:613079	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613079	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:613079	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:613079	KARS	3735	HP:0000365	Hearing impairment
OMIM:613079	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:613079	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:613079	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:613079	TMC1	117531	HP:0000365	Hearing impairment
OMIM:613079	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:613079	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:613079	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:613079	OTOF	9381	HP:0000365	Hearing impairment
OMIM:613079	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:613079	MYO6	4646	HP:0000365	Hearing impairment
OMIM:613079	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:613079	TMIE	259236	HP:0000365	Hearing impairment
OMIM:613079	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:613079	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:613079	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:613079	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:613079	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:613079	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:613079	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:613079	TPRN	286262	HP:0000365	Hearing impairment
OMIM:613079	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:613079	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:613079	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:613079	GJB6	10804	HP:0000365	Hearing impairment
OMIM:613079	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:613079	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:613079	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:613079	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:613079	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:613079	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:613079	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:613079	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:613079	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:613079	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:613079	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613079	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:613079	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:613079	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:613079	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:613079	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:613079	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:613079	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:613079	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:613079	CDH23	64072	HP:0000365	Hearing impairment
OMIM:613079	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:613079	RDX	5962	HP:0000365	Hearing impairment
OMIM:613079	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:613079	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:613079	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:613079	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:613079	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:613079	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:613079	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:613079	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:613079	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:613079	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:613079	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:613079	STRC	161497	HP:0000365	Hearing impairment
OMIM:613079	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:613079	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:613079	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:613079	TECTA	7007	HP:0000365	Hearing impairment
OMIM:613079	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:613079	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:613079	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:613079	USH1C	10083	HP:0000365	Hearing impairment
OMIM:613079	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:613079	ADCY1	107	HP:0000365	Hearing impairment
OMIM:613079	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:613079	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:613079	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:613079	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:613079	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:613079	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:613079	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:613079	OTOG	340990	HP:0000365	Hearing impairment
OMIM:613079	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:613086	LTBP2	4053	HP:0000613	Photophobia
OMIM:613086	LTBP2	4053	HP:0007957	Corneal opacity
OMIM:613086	LTBP2	4053	HP:0001083	Ectopia lentis
OMIM:613086	LTBP2	4053	HP:0000007	Autosomal recessive inheritance
OMIM:613086	CYP1B1	1545	HP:0000613	Photophobia
OMIM:613086	CYP1B1	1545	HP:0007957	Corneal opacity
OMIM:613086	CYP1B1	1545	HP:0001083	Ectopia lentis
OMIM:613086	CYP1B1	1545	HP:0000007	Autosomal recessive inheritance
OMIM:613086	MYOC	4653	HP:0000613	Photophobia
OMIM:613086	MYOC	4653	HP:0007957	Corneal opacity
OMIM:613086	MYOC	4653	HP:0001083	Ectopia lentis
OMIM:613086	MYOC	4653	HP:0000007	Autosomal recessive inheritance
OMIM:605021	TBC1D24	57465	HP:0002069	Generalized tonic-clonic seizures
OMIM:605021	TBC1D24	57465	HP:0003593	Infantile onset
OMIM:605021	TBC1D24	57465	HP:0003828	Variable expressivity
OMIM:605021	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:605021	TBC1D24	57465	HP:0002373	Febrile seizures
OMIM:605021	TBC1D24	57465	HP:0007359	Focal seizures
OMIM:605021	TBC1D24	57465	HP:0002123	Generalized myoclonic seizures
OMIM:602025	MC3R	4159	HP:0001513	Obesity
ORPHANET:35069	PLA2G6	8398	HP:0001250	Seizures
ORPHANET:35069	PLA2G6	8398	HP:0000639	Nystagmus
ORPHANET:35069	PLA2G6	8398	HP:0000505	Visual impairment
ORPHANET:35069	PLA2G6	8398	HP:0000648	Optic atrophy
ORPHANET:35069	PLA2G6	8398	HP:0001252	Muscular hypotonia
ORPHANET:35069	PLA2G6	8398	HP:0002376	Developmental regression
ORPHANET:35069	PLA2G6	8398	HP:0004325	Decreased body weight
OMIM:609304	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:609304	KCNB1	3745	HP:0001319	Neonatal hypotonia
OMIM:609304	KCNB1	3745	HP:0002123	Generalized myoclonic seizures
OMIM:609304	KCNB1	3745	HP:0003819	Death in childhood
OMIM:609304	KCNB1	3745	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	KCNB1	3745	HP:0000007	Autosomal recessive inheritance
OMIM:609304	KCNB1	3745	HP:0001257	Spasticity
OMIM:609304	KCNB1	3745	HP:0012448	Delayed myelination
OMIM:609304	KCNB1	3745	HP:0002059	Cerebral atrophy
OMIM:609304	KCNB1	3745	HP:0000253	Progressive microcephaly
OMIM:609304	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:609304	PIGQ	9091	HP:0001319	Neonatal hypotonia
OMIM:609304	PIGQ	9091	HP:0002123	Generalized myoclonic seizures
OMIM:609304	PIGQ	9091	HP:0003819	Death in childhood
OMIM:609304	PIGQ	9091	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	PIGQ	9091	HP:0000007	Autosomal recessive inheritance
OMIM:609304	PIGQ	9091	HP:0001257	Spasticity
OMIM:609304	PIGQ	9091	HP:0012448	Delayed myelination
OMIM:609304	PIGQ	9091	HP:0002059	Cerebral atrophy
OMIM:609304	PIGQ	9091	HP:0000253	Progressive microcephaly
OMIM:609304	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:609304	SLC25A22	79751	HP:0001319	Neonatal hypotonia
OMIM:609304	SLC25A22	79751	HP:0002123	Generalized myoclonic seizures
OMIM:609304	SLC25A22	79751	HP:0003819	Death in childhood
OMIM:609304	SLC25A22	79751	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	SLC25A22	79751	HP:0000007	Autosomal recessive inheritance
OMIM:609304	SLC25A22	79751	HP:0001257	Spasticity
OMIM:609304	SLC25A22	79751	HP:0012448	Delayed myelination
OMIM:609304	SLC25A22	79751	HP:0002059	Cerebral atrophy
OMIM:609304	SLC25A22	79751	HP:0000253	Progressive microcephaly
OMIM:609304	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:609304	CDKL5	6792	HP:0001319	Neonatal hypotonia
OMIM:609304	CDKL5	6792	HP:0002123	Generalized myoclonic seizures
OMIM:609304	CDKL5	6792	HP:0003819	Death in childhood
OMIM:609304	CDKL5	6792	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	CDKL5	6792	HP:0000007	Autosomal recessive inheritance
OMIM:609304	CDKL5	6792	HP:0001257	Spasticity
OMIM:609304	CDKL5	6792	HP:0012448	Delayed myelination
OMIM:609304	CDKL5	6792	HP:0002059	Cerebral atrophy
OMIM:609304	CDKL5	6792	HP:0000253	Progressive microcephaly
OMIM:609304	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:609304	KCNQ2	3785	HP:0001319	Neonatal hypotonia
OMIM:609304	KCNQ2	3785	HP:0002123	Generalized myoclonic seizures
OMIM:609304	KCNQ2	3785	HP:0003819	Death in childhood
OMIM:609304	KCNQ2	3785	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	KCNQ2	3785	HP:0000007	Autosomal recessive inheritance
OMIM:609304	KCNQ2	3785	HP:0001257	Spasticity
OMIM:609304	KCNQ2	3785	HP:0012448	Delayed myelination
OMIM:609304	KCNQ2	3785	HP:0002059	Cerebral atrophy
OMIM:609304	KCNQ2	3785	HP:0000253	Progressive microcephaly
OMIM:609304	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:609304	SLC13A5	284111	HP:0001319	Neonatal hypotonia
OMIM:609304	SLC13A5	284111	HP:0002123	Generalized myoclonic seizures
OMIM:609304	SLC13A5	284111	HP:0003819	Death in childhood
OMIM:609304	SLC13A5	284111	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	SLC13A5	284111	HP:0000007	Autosomal recessive inheritance
OMIM:609304	SLC13A5	284111	HP:0001257	Spasticity
OMIM:609304	SLC13A5	284111	HP:0012448	Delayed myelination
OMIM:609304	SLC13A5	284111	HP:0002059	Cerebral atrophy
OMIM:609304	SLC13A5	284111	HP:0000253	Progressive microcephaly
OMIM:609304	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:609304	SIK1	150094	HP:0001319	Neonatal hypotonia
OMIM:609304	SIK1	150094	HP:0002123	Generalized myoclonic seizures
OMIM:609304	SIK1	150094	HP:0003819	Death in childhood
OMIM:609304	SIK1	150094	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	SIK1	150094	HP:0000007	Autosomal recessive inheritance
OMIM:609304	SIK1	150094	HP:0001257	Spasticity
OMIM:609304	SIK1	150094	HP:0012448	Delayed myelination
OMIM:609304	SIK1	150094	HP:0002059	Cerebral atrophy
OMIM:609304	SIK1	150094	HP:0000253	Progressive microcephaly
OMIM:609304	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:609304	HCN1	348980	HP:0001319	Neonatal hypotonia
OMIM:609304	HCN1	348980	HP:0002123	Generalized myoclonic seizures
OMIM:609304	HCN1	348980	HP:0003819	Death in childhood
OMIM:609304	HCN1	348980	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	HCN1	348980	HP:0000007	Autosomal recessive inheritance
OMIM:609304	HCN1	348980	HP:0001257	Spasticity
OMIM:609304	HCN1	348980	HP:0012448	Delayed myelination
OMIM:609304	HCN1	348980	HP:0002059	Cerebral atrophy
OMIM:609304	HCN1	348980	HP:0000253	Progressive microcephaly
OMIM:609304	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:609304	PNKP	11284	HP:0001319	Neonatal hypotonia
OMIM:609304	PNKP	11284	HP:0002123	Generalized myoclonic seizures
OMIM:609304	PNKP	11284	HP:0003819	Death in childhood
OMIM:609304	PNKP	11284	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	PNKP	11284	HP:0000007	Autosomal recessive inheritance
OMIM:609304	PNKP	11284	HP:0001257	Spasticity
OMIM:609304	PNKP	11284	HP:0012448	Delayed myelination
OMIM:609304	PNKP	11284	HP:0002059	Cerebral atrophy
OMIM:609304	PNKP	11284	HP:0000253	Progressive microcephaly
OMIM:609304	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:609304	SCN2A	6326	HP:0001319	Neonatal hypotonia
OMIM:609304	SCN2A	6326	HP:0002123	Generalized myoclonic seizures
OMIM:609304	SCN2A	6326	HP:0003819	Death in childhood
OMIM:609304	SCN2A	6326	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	SCN2A	6326	HP:0000007	Autosomal recessive inheritance
OMIM:609304	SCN2A	6326	HP:0001257	Spasticity
OMIM:609304	SCN2A	6326	HP:0012448	Delayed myelination
OMIM:609304	SCN2A	6326	HP:0002059	Cerebral atrophy
OMIM:609304	SCN2A	6326	HP:0000253	Progressive microcephaly
OMIM:609304	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:609304	GNAO1	2775	HP:0001319	Neonatal hypotonia
OMIM:609304	GNAO1	2775	HP:0002123	Generalized myoclonic seizures
OMIM:609304	GNAO1	2775	HP:0003819	Death in childhood
OMIM:609304	GNAO1	2775	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	GNAO1	2775	HP:0000007	Autosomal recessive inheritance
OMIM:609304	GNAO1	2775	HP:0001257	Spasticity
OMIM:609304	GNAO1	2775	HP:0012448	Delayed myelination
OMIM:609304	GNAO1	2775	HP:0002059	Cerebral atrophy
OMIM:609304	GNAO1	2775	HP:0000253	Progressive microcephaly
OMIM:609304	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:609304	NECAP1	25977	HP:0001319	Neonatal hypotonia
OMIM:609304	NECAP1	25977	HP:0002123	Generalized myoclonic seizures
OMIM:609304	NECAP1	25977	HP:0003819	Death in childhood
OMIM:609304	NECAP1	25977	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	NECAP1	25977	HP:0000007	Autosomal recessive inheritance
OMIM:609304	NECAP1	25977	HP:0001257	Spasticity
OMIM:609304	NECAP1	25977	HP:0012448	Delayed myelination
OMIM:609304	NECAP1	25977	HP:0002059	Cerebral atrophy
OMIM:609304	NECAP1	25977	HP:0000253	Progressive microcephaly
OMIM:609304	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:609304	ARX	170302	HP:0001319	Neonatal hypotonia
OMIM:609304	ARX	170302	HP:0002123	Generalized myoclonic seizures
OMIM:609304	ARX	170302	HP:0003819	Death in childhood
OMIM:609304	ARX	170302	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	ARX	170302	HP:0000007	Autosomal recessive inheritance
OMIM:609304	ARX	170302	HP:0001257	Spasticity
OMIM:609304	ARX	170302	HP:0012448	Delayed myelination
OMIM:609304	ARX	170302	HP:0002059	Cerebral atrophy
OMIM:609304	ARX	170302	HP:0000253	Progressive microcephaly
OMIM:609304	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:609304	STXBP1	6812	HP:0001319	Neonatal hypotonia
OMIM:609304	STXBP1	6812	HP:0002123	Generalized myoclonic seizures
OMIM:609304	STXBP1	6812	HP:0003819	Death in childhood
OMIM:609304	STXBP1	6812	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	STXBP1	6812	HP:0000007	Autosomal recessive inheritance
OMIM:609304	STXBP1	6812	HP:0001257	Spasticity
OMIM:609304	STXBP1	6812	HP:0012448	Delayed myelination
OMIM:609304	STXBP1	6812	HP:0002059	Cerebral atrophy
OMIM:609304	STXBP1	6812	HP:0000253	Progressive microcephaly
OMIM:609304	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:609304	WWOX	51741	HP:0001319	Neonatal hypotonia
OMIM:609304	WWOX	51741	HP:0002123	Generalized myoclonic seizures
OMIM:609304	WWOX	51741	HP:0003819	Death in childhood
OMIM:609304	WWOX	51741	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	WWOX	51741	HP:0000007	Autosomal recessive inheritance
OMIM:609304	WWOX	51741	HP:0001257	Spasticity
OMIM:609304	WWOX	51741	HP:0012448	Delayed myelination
OMIM:609304	WWOX	51741	HP:0002059	Cerebral atrophy
OMIM:609304	WWOX	51741	HP:0000253	Progressive microcephaly
OMIM:609304	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:609304	CASK	8573	HP:0001319	Neonatal hypotonia
OMIM:609304	CASK	8573	HP:0002123	Generalized myoclonic seizures
OMIM:609304	CASK	8573	HP:0003819	Death in childhood
OMIM:609304	CASK	8573	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	CASK	8573	HP:0000007	Autosomal recessive inheritance
OMIM:609304	CASK	8573	HP:0001257	Spasticity
OMIM:609304	CASK	8573	HP:0012448	Delayed myelination
OMIM:609304	CASK	8573	HP:0002059	Cerebral atrophy
OMIM:609304	CASK	8573	HP:0000253	Progressive microcephaly
OMIM:609304	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:609304	SCN8A	6334	HP:0001319	Neonatal hypotonia
OMIM:609304	SCN8A	6334	HP:0002123	Generalized myoclonic seizures
OMIM:609304	SCN8A	6334	HP:0003819	Death in childhood
OMIM:609304	SCN8A	6334	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	SCN8A	6334	HP:0000007	Autosomal recessive inheritance
OMIM:609304	SCN8A	6334	HP:0001257	Spasticity
OMIM:609304	SCN8A	6334	HP:0012448	Delayed myelination
OMIM:609304	SCN8A	6334	HP:0002059	Cerebral atrophy
OMIM:609304	SCN8A	6334	HP:0000253	Progressive microcephaly
OMIM:609304	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:609304	DNM1	1759	HP:0001319	Neonatal hypotonia
OMIM:609304	DNM1	1759	HP:0002123	Generalized myoclonic seizures
OMIM:609304	DNM1	1759	HP:0003819	Death in childhood
OMIM:609304	DNM1	1759	HP:0000649	Abnormality of visual evoked potentials
OMIM:609304	DNM1	1759	HP:0000007	Autosomal recessive inheritance
OMIM:609304	DNM1	1759	HP:0001257	Spasticity
OMIM:609304	DNM1	1759	HP:0012448	Delayed myelination
OMIM:609304	DNM1	1759	HP:0002059	Cerebral atrophy
OMIM:609304	DNM1	1759	HP:0000253	Progressive microcephaly
OMIM:607101	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:607101	MSRB3	253827	HP:0001730	Progressive hearing impairment
OMIM:607101	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:607101	BSND	7809	HP:0001730	Progressive hearing impairment
OMIM:607101	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:607101	ESPN	83715	HP:0001730	Progressive hearing impairment
OMIM:607101	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:607101	DFNB31	25861	HP:0001730	Progressive hearing impairment
OMIM:607101	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:607101	OTOA	146183	HP:0001730	Progressive hearing impairment
OMIM:607101	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:607101	GJA1	2697	HP:0001730	Progressive hearing impairment
OMIM:607101	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:607101	MET	4233	HP:0001730	Progressive hearing impairment
OMIM:607101	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:607101	CLDN14	23562	HP:0001730	Progressive hearing impairment
OMIM:607101	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:607101	HGF	3082	HP:0001730	Progressive hearing impairment
OMIM:607101	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:607101	PNPT1	87178	HP:0001730	Progressive hearing impairment
OMIM:607101	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:607101	EPS8	2059	HP:0001730	Progressive hearing impairment
OMIM:607101	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:607101	MYO3A	53904	HP:0001730	Progressive hearing impairment
OMIM:607101	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:607101	DCDC2	51473	HP:0001730	Progressive hearing impairment
OMIM:607101	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:607101	GJB2	2706	HP:0001730	Progressive hearing impairment
OMIM:607101	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:607101	GJB3	2707	HP:0001730	Progressive hearing impairment
OMIM:607101	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:607101	CABP2	51475	HP:0001730	Progressive hearing impairment
OMIM:607101	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:607101	GRXCR2	643226	HP:0001730	Progressive hearing impairment
OMIM:607101	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:607101	SERPINB6	5269	HP:0001730	Progressive hearing impairment
OMIM:607101	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:607101	COL11A2	1302	HP:0001730	Progressive hearing impairment
OMIM:607101	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:607101	CIB2	10518	HP:0001730	Progressive hearing impairment
OMIM:607101	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:607101	FAM65B	9750	HP:0001730	Progressive hearing impairment
OMIM:607101	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:607101	KARS	3735	HP:0001730	Progressive hearing impairment
OMIM:607101	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:607101	LOXHD1	125336	HP:0001730	Progressive hearing impairment
OMIM:607101	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:607101	TMC1	117531	HP:0001730	Progressive hearing impairment
OMIM:607101	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:607101	CLIC5	53405	HP:0001730	Progressive hearing impairment
OMIM:607101	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:607101	OTOF	9381	HP:0001730	Progressive hearing impairment
OMIM:607101	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:607101	MYO6	4646	HP:0001730	Progressive hearing impairment
OMIM:607101	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:607101	TMIE	259236	HP:0001730	Progressive hearing impairment
OMIM:607101	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:607101	MYO7A	4647	HP:0001730	Progressive hearing impairment
OMIM:607101	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:607101	LRTOMT	220074	HP:0001730	Progressive hearing impairment
OMIM:607101	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:607101	OTOGL	283310	HP:0001730	Progressive hearing impairment
OMIM:607101	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:607101	TPRN	286262	HP:0001730	Progressive hearing impairment
OMIM:607101	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:607101	SLC26A4	5172	HP:0001730	Progressive hearing impairment
OMIM:607101	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:607101	GJB6	10804	HP:0001730	Progressive hearing impairment
OMIM:607101	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:607101	DFNB59	494513	HP:0001730	Progressive hearing impairment
OMIM:607101	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:607101	ESRRB	2103	HP:0001730	Progressive hearing impairment
OMIM:607101	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:607101	TMPRSS3	64699	HP:0001730	Progressive hearing impairment
OMIM:607101	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:607101	PTPRQ	374462	HP:0001730	Progressive hearing impairment
OMIM:607101	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:607101	SLC26A5	375611	HP:0001730	Progressive hearing impairment
OMIM:607101	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:607101	PCDH15	65217	HP:0001730	Progressive hearing impairment
OMIM:607101	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:607101	TSPEAR	54084	HP:0001730	Progressive hearing impairment
OMIM:607101	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:607101	LHFPL5	222662	HP:0001730	Progressive hearing impairment
OMIM:607101	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:607101	TRIOBP	11078	HP:0001730	Progressive hearing impairment
OMIM:607101	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:607101	CDH23	64072	HP:0001730	Progressive hearing impairment
OMIM:607101	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:607101	RDX	5962	HP:0001730	Progressive hearing impairment
OMIM:607101	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:607101	GPSM2	29899	HP:0001730	Progressive hearing impairment
OMIM:607101	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:607101	ELMOD3	84173	HP:0001730	Progressive hearing impairment
OMIM:607101	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:607101	ILDR1	286676	HP:0001730	Progressive hearing impairment
OMIM:607101	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:607101	GRXCR1	389207	HP:0001730	Progressive hearing impairment
OMIM:607101	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:607101	MARVELD2	153562	HP:0001730	Progressive hearing impairment
OMIM:607101	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:607101	STRC	161497	HP:0001730	Progressive hearing impairment
OMIM:607101	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:607101	SLITRK6	84189	HP:0001730	Progressive hearing impairment
OMIM:607101	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:607101	TECTA	7007	HP:0001730	Progressive hearing impairment
OMIM:607101	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:607101	MYO15A	51168	HP:0001730	Progressive hearing impairment
OMIM:607101	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:607101	USH1C	10083	HP:0001730	Progressive hearing impairment
OMIM:607101	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:607101	ADCY1	107	HP:0001730	Progressive hearing impairment
OMIM:607101	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:607101	SYNE4	163183	HP:0001730	Progressive hearing impairment
OMIM:607101	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:607101	GIPC3	126326	HP:0001730	Progressive hearing impairment
OMIM:607101	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:607101	TBC1D24	57465	HP:0001730	Progressive hearing impairment
OMIM:607101	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:607101	OTOG	340990	HP:0001730	Progressive hearing impairment
OMIM:122400	COL17A1	1308	HP:0000006	Autosomal dominant inheritance
OMIM:201100	SLC39A4	55630	HP:0005435	Impaired T cell function
OMIM:201100	SLC39A4	55630	HP:0004322	Short stature
OMIM:201100	SLC39A4	55630	HP:0001251	Ataxia
OMIM:201100	SLC39A4	55630	HP:0000135	Hypogonadism
OMIM:201100	SLC39A4	55630	HP:0000613	Photophobia
OMIM:201100	SLC39A4	55630	HP:0001337	Tremor
OMIM:201100	SLC39A4	55630	HP:0000007	Autosomal recessive inheritance
OMIM:201100	SLC39A4	55630	HP:0001824	Weight loss
OMIM:201100	SLC39A4	55630	HP:0008734	Decreased testicular size
OMIM:201100	SLC39A4	55630	HP:0100533	Inflammatory abnormality of the eye
OMIM:201100	SLC39A4	55630	HP:0001231	Abnormality of the fingernails
OMIM:201100	SLC39A4	55630	HP:0003593	Infantile onset
OMIM:201100	SLC39A4	55630	HP:0002120	Cerebral cortical atrophy
OMIM:201100	SLC39A4	55630	HP:0002014	Diarrhea
OMIM:201100	SLC39A4	55630	HP:0000534	Abnormality of the eyebrow
OMIM:201100	SLC39A4	55630	HP:0000712	Emotional lability
OMIM:201100	SLC39A4	55630	HP:0002240	Hepatomegaly
OMIM:201100	SLC39A4	55630	HP:0200042	Skin ulcer
OMIM:201100	SLC39A4	55630	HP:0002039	Anorexia
OMIM:201100	SLC39A4	55630	HP:0000224	Decreased taste sensation
OMIM:201100	SLC39A4	55630	HP:0001596	Alopecia
OMIM:201100	SLC39A4	55630	HP:0001508	Failure to thrive
OMIM:201100	SLC39A4	55630	HP:0002024	Malabsorption
OMIM:201100	SLC39A4	55630	HP:0000958	Dry skin
OMIM:201100	SLC39A4	55630	HP:0001254	Lethargy
OMIM:201100	SLC39A4	55630	HP:0001818	Paronychia
OMIM:201100	SLC39A4	55630	HP:0000505	Visual impairment
OMIM:201100	SLC39A4	55630	HP:0001744	Splenomegaly
OMIM:201100	SLC39A4	55630	HP:0000737	Irritability
OMIM:201100	SLC39A4	55630	HP:0008388	Abnormality of the toenails
OMIM:611383	PDZD7	79955	HP:0000007	Autosomal recessive inheritance
OMIM:611383	PDZD7	79955	HP:0000510	Rod-cone dystrophy
OMIM:611383	PDZD7	79955	HP:0000365	Hearing impairment
OMIM:611383	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:611383	DFNB31	25861	HP:0000510	Rod-cone dystrophy
OMIM:611383	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:611383	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:611383	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:611383	USH2A	7399	HP:0000365	Hearing impairment
OMIM:611383	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:611383	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:611383	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:611383	ADGRV1	84059	HP:0000007	Autosomal recessive inheritance
OMIM:611383	ADGRV1	84059	HP:0000510	Rod-cone dystrophy
OMIM:611383	ADGRV1	84059	HP:0000365	Hearing impairment
ORPHANET:659	MBTPS2	51360	HP:0001376	Limitation of joint mobility
ORPHANET:659	MBTPS2	51360	HP:0008069	Neoplasm of the skin
ORPHANET:659	MBTPS2	51360	HP:0002797	Osteolysis
ORPHANET:659	MBTPS2	51360	HP:0200042	Skin ulcer
ORPHANET:659	MBTPS2	51360	HP:0009804	Reduced number of teeth
ORPHANET:659	MBTPS2	51360	HP:0000982	Palmoplantar keratoderma
ORPHANET:659	MBTPS2	51360	HP:0001231	Abnormality of the fingernails
ORPHANET:659	MBTPS2	51360	HP:0000407	Sensorineural hearing impairment
ORPHANET:659	MBTPS2	51360	HP:0000670	Carious teeth
ORPHANET:659	MBTPS2	51360	HP:0000966	Hypohidrosis
ORPHANET:659	MBTPS2	51360	HP:0001596	Alopecia
ORPHANET:659	MBTPS2	51360	HP:0002861	Melanoma
ORPHANET:659	MBTPS2	51360	HP:0001250	Seizures
ORPHANET:659	MBTPS2	51360	HP:0100526	Neoplasm of the lung
ORPHANET:659	MBTPS2	51360	HP:0004348	Abnormality of bone mineral density
ORPHANET:659	TRPV3	162514	HP:0001376	Limitation of joint mobility
ORPHANET:659	TRPV3	162514	HP:0008069	Neoplasm of the skin
ORPHANET:659	TRPV3	162514	HP:0002797	Osteolysis
ORPHANET:659	TRPV3	162514	HP:0200042	Skin ulcer
ORPHANET:659	TRPV3	162514	HP:0009804	Reduced number of teeth
ORPHANET:659	TRPV3	162514	HP:0000982	Palmoplantar keratoderma
ORPHANET:659	TRPV3	162514	HP:0001231	Abnormality of the fingernails
ORPHANET:659	TRPV3	162514	HP:0000407	Sensorineural hearing impairment
ORPHANET:659	TRPV3	162514	HP:0000670	Carious teeth
ORPHANET:659	TRPV3	162514	HP:0000966	Hypohidrosis
ORPHANET:659	TRPV3	162514	HP:0001596	Alopecia
ORPHANET:659	TRPV3	162514	HP:0002861	Melanoma
ORPHANET:659	TRPV3	162514	HP:0001250	Seizures
ORPHANET:659	TRPV3	162514	HP:0100526	Neoplasm of the lung
ORPHANET:659	TRPV3	162514	HP:0004348	Abnormality of bone mineral density
OMIM:202355	STAR	6770	HP:0000007	Autosomal recessive inheritance
OMIM:202355	STAR	6770	HP:0003154	Increased circulating ACTH level
OMIM:202355	STAR	6770	HP:0000953	Hyperpigmentation of the skin
OMIM:202355	MRAP	56246	HP:0000007	Autosomal recessive inheritance
OMIM:202355	MRAP	56246	HP:0003154	Increased circulating ACTH level
OMIM:202355	MRAP	56246	HP:0000953	Hyperpigmentation of the skin
OMIM:202355	NNT	23530	HP:0000007	Autosomal recessive inheritance
OMIM:202355	NNT	23530	HP:0003154	Increased circulating ACTH level
OMIM:202355	NNT	23530	HP:0000953	Hyperpigmentation of the skin
OMIM:202355	TXNRD2	10587	HP:0000007	Autosomal recessive inheritance
OMIM:202355	TXNRD2	10587	HP:0003154	Increased circulating ACTH level
OMIM:202355	TXNRD2	10587	HP:0000953	Hyperpigmentation of the skin
OMIM:202355	MC2R	4158	HP:0000007	Autosomal recessive inheritance
OMIM:202355	MC2R	4158	HP:0003154	Increased circulating ACTH level
OMIM:202355	MC2R	4158	HP:0000953	Hyperpigmentation of the skin
OMIM:609528	SNAP29	9342	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:609528	SNAP29	9342	HP:0000268	Dolichocephaly
OMIM:609528	SNAP29	9342	HP:0000276	Long face
OMIM:609528	SNAP29	9342	HP:0000400	Macrotia
OMIM:609528	SNAP29	9342	HP:0001263	Global developmental delay
OMIM:609528	SNAP29	9342	HP:0002539	Cortical dysplasia
OMIM:609528	SNAP29	9342	HP:0000164	Abnormality of the teeth
OMIM:609528	SNAP29	9342	HP:0000253	Progressive microcephaly
OMIM:609528	SNAP29	9342	HP:0001635	Congestive heart failure
OMIM:609528	SNAP29	9342	HP:0001252	Muscular hypotonia
OMIM:609528	SNAP29	9342	HP:0000078	Abnormality of the genital system
OMIM:609528	SNAP29	9342	HP:0002311	Incoordination
OMIM:609528	SNAP29	9342	HP:0000494	Downslanted palpebral fissures
OMIM:609528	SNAP29	9342	HP:0002269	Abnormality of neuronal migration
OMIM:609528	SNAP29	9342	HP:0000982	Palmoplantar keratoderma
OMIM:609528	SNAP29	9342	HP:0000496	Abnormality of eye movement
OMIM:609528	SNAP29	9342	HP:0000457	Depressed nasal ridge
OMIM:609528	SNAP29	9342	HP:0008064	Ichthyosis
OMIM:609528	SNAP29	9342	HP:0001315	Reduced tendon reflexes
OMIM:609528	SNAP29	9342	HP:0001302	Pachygyria
OMIM:609528	SNAP29	9342	HP:0000093	Proteinuria
OMIM:609528	SNAP29	9342	HP:0000316	Hypertelorism
OMIM:609528	SNAP29	9342	HP:0001271	Polyneuropathy
OMIM:609528	SNAP29	9342	HP:0002421	Poor head control
OMIM:609528	SNAP29	9342	HP:0004322	Short stature
OMIM:609528	SNAP29	9342	HP:0000407	Sensorineural hearing impairment
OMIM:609528	SNAP29	9342	HP:0007766	Optic disc hypoplasia
OMIM:609528	SNAP29	9342	HP:0001508	Failure to thrive
OMIM:609528	SNAP29	9342	HP:0000648	Optic atrophy
OMIM:609528	SNAP29	9342	HP:0002126	Polymicrogyria
OMIM:609528	SNAP29	9342	HP:0000100	Nephrotic syndrome
OMIM:609528	SNAP29	9342	HP:0009830	Peripheral neuropathy
OMIM:609528	SNAP29	9342	HP:0000431	Wide nasal bridge
OMIM:609528	SNAP29	9342	HP:0000252	Microcephaly
OMIM:609528	SNAP29	9342	HP:0005280	Depressed nasal bridge
OMIM:609528	SNAP29	9342	HP:0001639	Hypertrophic cardiomyopathy
OMIM:609528	SNAP29	9342	HP:0100543	Cognitive impairment
OMIM:609528	SNAP29	9342	HP:0001250	Seizures
OMIM:609528	SNAP29	9342	HP:0000762	Decreased nerve conduction velocity
OMIM:609528	SNAP29	9342	HP:0001284	Areflexia
OMIM:609528	SNAP29	9342	HP:0006887	Intellectual disability, progressive
OMIM:609528	SNAP29	9342	HP:0010864	Intellectual disability, severe
OMIM:609528	SNAP29	9342	HP:0003593	Infantile onset
OMIM:609528	SNAP29	9342	HP:0001273	Abnormality of the corpus callosum
OMIM:609528	SNAP29	9342	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:609528	SNAP29	9342	HP:0002637	Cerebral ischemia
OMIM:609528	SNAP29	9342	HP:0000007	Autosomal recessive inheritance
OMIM:609528	SNAP29	9342	HP:0000426	Prominent nasal bridge
OMIM:609528	SNAP29	9342	HP:0002239	Gastrointestinal hemorrhage
OMIM:276300	PMS2	5395	HP:0010524	Agnosia
OMIM:276300	PMS2	5395	HP:0000957	Cafe-au-lait spot
OMIM:276300	PMS2	5395	HP:0002076	Migraine
OMIM:276300	PMS2	5395	HP:0008069	Neoplasm of the skin
OMIM:276300	PMS2	5395	HP:0002019	Constipation
OMIM:276300	PMS2	5395	HP:0100273	Neoplasm of the colon
OMIM:276300	PMS2	5395	HP:0000007	Autosomal recessive inheritance
OMIM:276300	PMS2	5395	HP:0001252	Muscular hypotonia
OMIM:276300	PMS2	5395	HP:0000738	Hallucinations
OMIM:276300	PMS2	5395	HP:0002239	Gastrointestinal hemorrhage
OMIM:276300	PMS2	5395	HP:0002024	Malabsorption
OMIM:276300	PMS2	5395	HP:0100031	Neoplasm of the thyroid gland
OMIM:276300	PMS2	5395	HP:0002665	Lymphoma
OMIM:276300	PMS2	5395	HP:0002354	Memory impairment
OMIM:276300	PMS2	5395	HP:0007256	Abnormal pyramidal signs
OMIM:276300	PMS2	5395	HP:0001824	Weight loss
OMIM:276300	PMS2	5395	HP:0002376	Developmental regression
OMIM:276300	PMS2	5395	HP:0100843	Glioblastoma
OMIM:276300	PMS2	5395	HP:0001034	Hypermelanotic macule
OMIM:276300	PMS2	5395	HP:0001371	Flexion contracture
OMIM:276300	PMS2	5395	HP:0001276	Hypertonia
OMIM:276300	PMS2	5395	HP:0010622	Neoplasm of the skeletal system
OMIM:276300	PMS2	5395	HP:0001250	Seizures
OMIM:276300	PMS2	5395	HP:0002885	Medulloblastoma
OMIM:276300	PMS2	5395	HP:0001274	Agenesis of corpus callosum
OMIM:276300	PMS2	5395	HP:0002027	Abdominal pain
OMIM:276300	PMS2	5395	HP:0002167	Neurological speech impairment
OMIM:276300	PMS2	5395	HP:0002888	Ependymoma
OMIM:276300	PMS2	5395	HP:0002859	Rhabdomyosarcoma
OMIM:276300	PMS2	5395	HP:0004374	Hemiplegia/hemiparesis
OMIM:276300	PMS2	5395	HP:0100615	Ovarian neoplasm
OMIM:276300	PMS2	5395	HP:0009733	Glioma
OMIM:276300	PMS2	5395	HP:0003401	Paresthesia
OMIM:276300	PMS2	5395	HP:0100835	Benign neoplasm of the central nervous system
OMIM:276300	PMS2	5395	HP:0003006	Neuroblastoma
OMIM:276300	PMS2	5395	HP:0100743	Neoplasm of the rectum
OMIM:276300	PMS2	5395	HP:0200008	Intestinal polyposis
OMIM:276300	PMS2	5395	HP:0001288	Gait disturbance
OMIM:276300	PMS2	5395	HP:0002017	Nausea and vomiting
OMIM:276300	PMS2	5395	HP:0010786	Urinary tract neoplasm
OMIM:276300	PMS2	5395	HP:0002894	Neoplasm of the pancreas
OMIM:276300	PMS2	5395	HP:0100576	Amaurosis fugax
OMIM:276300	PMS2	5395	HP:0007018	Attention deficit hyperactivity disorder
OMIM:276300	PMS2	5395	HP:0000505	Visual impairment
OMIM:276300	PMS2	5395	HP:0001123	Visual field defect
OMIM:276300	PMS2	5395	HP:0001909	Leukemia
OMIM:276300	PMS2	5395	HP:0001438	Abnormality of the abdomen
OMIM:276300	PMS2	5395	HP:0100242	Sarcoma
OMIM:276300	MSH2	4436	HP:0010524	Agnosia
OMIM:276300	MSH2	4436	HP:0000957	Cafe-au-lait spot
OMIM:276300	MSH2	4436	HP:0002076	Migraine
OMIM:276300	MSH2	4436	HP:0008069	Neoplasm of the skin
OMIM:276300	MSH2	4436	HP:0002019	Constipation
OMIM:276300	MSH2	4436	HP:0100273	Neoplasm of the colon
OMIM:276300	MSH2	4436	HP:0000007	Autosomal recessive inheritance
OMIM:276300	MSH2	4436	HP:0001252	Muscular hypotonia
OMIM:276300	MSH2	4436	HP:0000738	Hallucinations
OMIM:276300	MSH2	4436	HP:0002239	Gastrointestinal hemorrhage
OMIM:276300	MSH2	4436	HP:0002024	Malabsorption
OMIM:276300	MSH2	4436	HP:0100031	Neoplasm of the thyroid gland
OMIM:276300	MSH2	4436	HP:0002665	Lymphoma
OMIM:276300	MSH2	4436	HP:0002354	Memory impairment
OMIM:276300	MSH2	4436	HP:0007256	Abnormal pyramidal signs
OMIM:276300	MSH2	4436	HP:0001824	Weight loss
OMIM:276300	MSH2	4436	HP:0002376	Developmental regression
OMIM:276300	MSH2	4436	HP:0100843	Glioblastoma
OMIM:276300	MSH2	4436	HP:0001034	Hypermelanotic macule
OMIM:276300	MSH2	4436	HP:0001371	Flexion contracture
OMIM:276300	MSH2	4436	HP:0001276	Hypertonia
OMIM:276300	MSH2	4436	HP:0010622	Neoplasm of the skeletal system
OMIM:276300	MSH2	4436	HP:0001250	Seizures
OMIM:276300	MSH2	4436	HP:0002885	Medulloblastoma
OMIM:276300	MSH2	4436	HP:0001274	Agenesis of corpus callosum
OMIM:276300	MSH2	4436	HP:0002027	Abdominal pain
OMIM:276300	MSH2	4436	HP:0002167	Neurological speech impairment
OMIM:276300	MSH2	4436	HP:0002888	Ependymoma
OMIM:276300	MSH2	4436	HP:0002859	Rhabdomyosarcoma
OMIM:276300	MSH2	4436	HP:0004374	Hemiplegia/hemiparesis
OMIM:276300	MSH2	4436	HP:0100615	Ovarian neoplasm
OMIM:276300	MSH2	4436	HP:0009733	Glioma
OMIM:276300	MSH2	4436	HP:0003401	Paresthesia
OMIM:276300	MSH2	4436	HP:0100835	Benign neoplasm of the central nervous system
OMIM:276300	MSH2	4436	HP:0003006	Neuroblastoma
OMIM:276300	MSH2	4436	HP:0100743	Neoplasm of the rectum
OMIM:276300	MSH2	4436	HP:0200008	Intestinal polyposis
OMIM:276300	MSH2	4436	HP:0001288	Gait disturbance
OMIM:276300	MSH2	4436	HP:0002017	Nausea and vomiting
OMIM:276300	MSH2	4436	HP:0010786	Urinary tract neoplasm
OMIM:276300	MSH2	4436	HP:0002894	Neoplasm of the pancreas
OMIM:276300	MSH2	4436	HP:0100576	Amaurosis fugax
OMIM:276300	MSH2	4436	HP:0007018	Attention deficit hyperactivity disorder
OMIM:276300	MSH2	4436	HP:0000505	Visual impairment
OMIM:276300	MSH2	4436	HP:0001123	Visual field defect
OMIM:276300	MSH2	4436	HP:0001909	Leukemia
OMIM:276300	MSH2	4436	HP:0001438	Abnormality of the abdomen
OMIM:276300	MSH2	4436	HP:0100242	Sarcoma
OMIM:276300	MLH1	4292	HP:0010524	Agnosia
OMIM:276300	MLH1	4292	HP:0000957	Cafe-au-lait spot
OMIM:276300	MLH1	4292	HP:0002076	Migraine
OMIM:276300	MLH1	4292	HP:0008069	Neoplasm of the skin
OMIM:276300	MLH1	4292	HP:0002019	Constipation
OMIM:276300	MLH1	4292	HP:0100273	Neoplasm of the colon
OMIM:276300	MLH1	4292	HP:0000007	Autosomal recessive inheritance
OMIM:276300	MLH1	4292	HP:0001252	Muscular hypotonia
OMIM:276300	MLH1	4292	HP:0000738	Hallucinations
OMIM:276300	MLH1	4292	HP:0002239	Gastrointestinal hemorrhage
OMIM:276300	MLH1	4292	HP:0002024	Malabsorption
OMIM:276300	MLH1	4292	HP:0100031	Neoplasm of the thyroid gland
OMIM:276300	MLH1	4292	HP:0002665	Lymphoma
OMIM:276300	MLH1	4292	HP:0002354	Memory impairment
OMIM:276300	MLH1	4292	HP:0007256	Abnormal pyramidal signs
OMIM:276300	MLH1	4292	HP:0001824	Weight loss
OMIM:276300	MLH1	4292	HP:0002376	Developmental regression
OMIM:276300	MLH1	4292	HP:0100843	Glioblastoma
OMIM:276300	MLH1	4292	HP:0001034	Hypermelanotic macule
OMIM:276300	MLH1	4292	HP:0001371	Flexion contracture
OMIM:276300	MLH1	4292	HP:0001276	Hypertonia
OMIM:276300	MLH1	4292	HP:0010622	Neoplasm of the skeletal system
OMIM:276300	MLH1	4292	HP:0001250	Seizures
OMIM:276300	MLH1	4292	HP:0002885	Medulloblastoma
OMIM:276300	MLH1	4292	HP:0001274	Agenesis of corpus callosum
OMIM:276300	MLH1	4292	HP:0002027	Abdominal pain
OMIM:276300	MLH1	4292	HP:0002167	Neurological speech impairment
OMIM:276300	MLH1	4292	HP:0002888	Ependymoma
OMIM:276300	MLH1	4292	HP:0002859	Rhabdomyosarcoma
OMIM:276300	MLH1	4292	HP:0004374	Hemiplegia/hemiparesis
OMIM:276300	MLH1	4292	HP:0100615	Ovarian neoplasm
OMIM:276300	MLH1	4292	HP:0009733	Glioma
OMIM:276300	MLH1	4292	HP:0003401	Paresthesia
OMIM:276300	MLH1	4292	HP:0100835	Benign neoplasm of the central nervous system
OMIM:276300	MLH1	4292	HP:0003006	Neuroblastoma
OMIM:276300	MLH1	4292	HP:0100743	Neoplasm of the rectum
OMIM:276300	MLH1	4292	HP:0200008	Intestinal polyposis
OMIM:276300	MLH1	4292	HP:0001288	Gait disturbance
OMIM:276300	MLH1	4292	HP:0002017	Nausea and vomiting
OMIM:276300	MLH1	4292	HP:0010786	Urinary tract neoplasm
OMIM:276300	MLH1	4292	HP:0002894	Neoplasm of the pancreas
OMIM:276300	MLH1	4292	HP:0100576	Amaurosis fugax
OMIM:276300	MLH1	4292	HP:0007018	Attention deficit hyperactivity disorder
OMIM:276300	MLH1	4292	HP:0000505	Visual impairment
OMIM:276300	MLH1	4292	HP:0001123	Visual field defect
OMIM:276300	MLH1	4292	HP:0001909	Leukemia
OMIM:276300	MLH1	4292	HP:0001438	Abnormality of the abdomen
OMIM:276300	MLH1	4292	HP:0100242	Sarcoma
OMIM:276300	MSH6	2956	HP:0010524	Agnosia
OMIM:276300	MSH6	2956	HP:0000957	Cafe-au-lait spot
OMIM:276300	MSH6	2956	HP:0002076	Migraine
OMIM:276300	MSH6	2956	HP:0008069	Neoplasm of the skin
OMIM:276300	MSH6	2956	HP:0002019	Constipation
OMIM:276300	MSH6	2956	HP:0100273	Neoplasm of the colon
OMIM:276300	MSH6	2956	HP:0000007	Autosomal recessive inheritance
OMIM:276300	MSH6	2956	HP:0001252	Muscular hypotonia
OMIM:276300	MSH6	2956	HP:0000738	Hallucinations
OMIM:276300	MSH6	2956	HP:0002239	Gastrointestinal hemorrhage
OMIM:276300	MSH6	2956	HP:0002024	Malabsorption
OMIM:276300	MSH6	2956	HP:0100031	Neoplasm of the thyroid gland
OMIM:276300	MSH6	2956	HP:0002665	Lymphoma
OMIM:276300	MSH6	2956	HP:0002354	Memory impairment
OMIM:276300	MSH6	2956	HP:0007256	Abnormal pyramidal signs
OMIM:276300	MSH6	2956	HP:0001824	Weight loss
OMIM:276300	MSH6	2956	HP:0002376	Developmental regression
OMIM:276300	MSH6	2956	HP:0100843	Glioblastoma
OMIM:276300	MSH6	2956	HP:0001034	Hypermelanotic macule
OMIM:276300	MSH6	2956	HP:0001371	Flexion contracture
OMIM:276300	MSH6	2956	HP:0001276	Hypertonia
OMIM:276300	MSH6	2956	HP:0010622	Neoplasm of the skeletal system
OMIM:276300	MSH6	2956	HP:0001250	Seizures
OMIM:276300	MSH6	2956	HP:0002885	Medulloblastoma
OMIM:276300	MSH6	2956	HP:0001274	Agenesis of corpus callosum
OMIM:276300	MSH6	2956	HP:0002027	Abdominal pain
OMIM:276300	MSH6	2956	HP:0002167	Neurological speech impairment
OMIM:276300	MSH6	2956	HP:0002888	Ependymoma
OMIM:276300	MSH6	2956	HP:0002859	Rhabdomyosarcoma
OMIM:276300	MSH6	2956	HP:0004374	Hemiplegia/hemiparesis
OMIM:276300	MSH6	2956	HP:0100615	Ovarian neoplasm
OMIM:276300	MSH6	2956	HP:0009733	Glioma
OMIM:276300	MSH6	2956	HP:0003401	Paresthesia
OMIM:276300	MSH6	2956	HP:0100835	Benign neoplasm of the central nervous system
OMIM:276300	MSH6	2956	HP:0003006	Neuroblastoma
OMIM:276300	MSH6	2956	HP:0100743	Neoplasm of the rectum
OMIM:276300	MSH6	2956	HP:0200008	Intestinal polyposis
OMIM:276300	MSH6	2956	HP:0001288	Gait disturbance
OMIM:276300	MSH6	2956	HP:0002017	Nausea and vomiting
OMIM:276300	MSH6	2956	HP:0010786	Urinary tract neoplasm
OMIM:276300	MSH6	2956	HP:0002894	Neoplasm of the pancreas
OMIM:276300	MSH6	2956	HP:0100576	Amaurosis fugax
OMIM:276300	MSH6	2956	HP:0007018	Attention deficit hyperactivity disorder
OMIM:276300	MSH6	2956	HP:0000505	Visual impairment
OMIM:276300	MSH6	2956	HP:0001123	Visual field defect
OMIM:276300	MSH6	2956	HP:0001909	Leukemia
OMIM:276300	MSH6	2956	HP:0001438	Abnormality of the abdomen
OMIM:276300	MSH6	2956	HP:0100242	Sarcoma
OMIM:610489	PRKAR1A	5573	HP:0001956	Truncal obesity
OMIM:610489	PRKAR1A	5573	HP:0000822	Hypertension
OMIM:610489	PRKAR1A	5573	HP:0001575	Mood changes
OMIM:610489	PRKAR1A	5573	HP:0001579	Primary hypercorticolism
OMIM:610489	PRKAR1A	5573	HP:0002808	Kyphosis
OMIM:610489	PRKAR1A	5573	HP:0000006	Autosomal dominant inheritance
OMIM:610489	PRKAR1A	5573	HP:0000939	Osteoporosis
OMIM:610489	PRKAR1A	5573	HP:0001268	Mental deterioration
OMIM:610489	PRKAR1A	5573	HP:0000716	Depression
OMIM:610489	PRKAR1A	5573	HP:0000978	Bruising susceptibility
OMIM:610489	PRKAR1A	5573	HP:0002920	Decreased circulating ACTH level
OMIM:610489	PRKAR1A	5573	HP:0000938	Osteopenia
OMIM:610489	PRKAR1A	5573	HP:0003674	Onset
OMIM:610489	PRKAR1A	5573	HP:0000709	Psychosis
OMIM:610489	PRKAR1A	5573	HP:0000713	Agitation
OMIM:610489	PRKAR1A	5573	HP:0003118	Increased circulating cortisol level
OMIM:610489	PRKAR1A	5573	HP:0000739	Anxiety
OMIM:610489	PRKAR1A	5573	HP:0000311	Round face
OMIM:610489	PRKAR1A	5573	HP:0000963	Thin skin
OMIM:610489	PRKAR1A	5573	HP:0001065	Striae distensae
OMIM:610489	PDE11A	50940	HP:0001956	Truncal obesity
OMIM:610489	PDE11A	50940	HP:0000822	Hypertension
OMIM:610489	PDE11A	50940	HP:0001575	Mood changes
OMIM:610489	PDE11A	50940	HP:0001579	Primary hypercorticolism
OMIM:610489	PDE11A	50940	HP:0002808	Kyphosis
OMIM:610489	PDE11A	50940	HP:0000006	Autosomal dominant inheritance
OMIM:610489	PDE11A	50940	HP:0000939	Osteoporosis
OMIM:610489	PDE11A	50940	HP:0001268	Mental deterioration
OMIM:610489	PDE11A	50940	HP:0000716	Depression
OMIM:610489	PDE11A	50940	HP:0000978	Bruising susceptibility
OMIM:610489	PDE11A	50940	HP:0002920	Decreased circulating ACTH level
OMIM:610489	PDE11A	50940	HP:0000938	Osteopenia
OMIM:610489	PDE11A	50940	HP:0003674	Onset
OMIM:610489	PDE11A	50940	HP:0000709	Psychosis
OMIM:610489	PDE11A	50940	HP:0000713	Agitation
OMIM:610489	PDE11A	50940	HP:0003118	Increased circulating cortisol level
OMIM:610489	PDE11A	50940	HP:0000739	Anxiety
OMIM:610489	PDE11A	50940	HP:0000311	Round face
OMIM:610489	PDE11A	50940	HP:0000963	Thin skin
OMIM:610489	PDE11A	50940	HP:0001065	Striae distensae
OMIM:610489	PDE8B	8622	HP:0001956	Truncal obesity
OMIM:610489	PDE8B	8622	HP:0000822	Hypertension
OMIM:610489	PDE8B	8622	HP:0001575	Mood changes
OMIM:610489	PDE8B	8622	HP:0001579	Primary hypercorticolism
OMIM:610489	PDE8B	8622	HP:0002808	Kyphosis
OMIM:610489	PDE8B	8622	HP:0000006	Autosomal dominant inheritance
OMIM:610489	PDE8B	8622	HP:0000939	Osteoporosis
OMIM:610489	PDE8B	8622	HP:0001268	Mental deterioration
OMIM:610489	PDE8B	8622	HP:0000716	Depression
OMIM:610489	PDE8B	8622	HP:0000978	Bruising susceptibility
OMIM:610489	PDE8B	8622	HP:0002920	Decreased circulating ACTH level
OMIM:610489	PDE8B	8622	HP:0000938	Osteopenia
OMIM:610489	PDE8B	8622	HP:0003674	Onset
OMIM:610489	PDE8B	8622	HP:0000709	Psychosis
OMIM:610489	PDE8B	8622	HP:0000713	Agitation
OMIM:610489	PDE8B	8622	HP:0003118	Increased circulating cortisol level
OMIM:610489	PDE8B	8622	HP:0000739	Anxiety
OMIM:610489	PDE8B	8622	HP:0000311	Round face
OMIM:610489	PDE8B	8622	HP:0000963	Thin skin
OMIM:610489	PDE8B	8622	HP:0001065	Striae distensae
OMIM:610489	PRKACA	5566	HP:0001956	Truncal obesity
OMIM:610489	PRKACA	5566	HP:0000822	Hypertension
OMIM:610489	PRKACA	5566	HP:0001575	Mood changes
OMIM:610489	PRKACA	5566	HP:0001579	Primary hypercorticolism
OMIM:610489	PRKACA	5566	HP:0002808	Kyphosis
OMIM:610489	PRKACA	5566	HP:0000006	Autosomal dominant inheritance
OMIM:610489	PRKACA	5566	HP:0000939	Osteoporosis
OMIM:610489	PRKACA	5566	HP:0001268	Mental deterioration
OMIM:610489	PRKACA	5566	HP:0000716	Depression
OMIM:610489	PRKACA	5566	HP:0000978	Bruising susceptibility
OMIM:610489	PRKACA	5566	HP:0002920	Decreased circulating ACTH level
OMIM:610489	PRKACA	5566	HP:0000938	Osteopenia
OMIM:610489	PRKACA	5566	HP:0003674	Onset
OMIM:610489	PRKACA	5566	HP:0000709	Psychosis
OMIM:610489	PRKACA	5566	HP:0000713	Agitation
OMIM:610489	PRKACA	5566	HP:0003118	Increased circulating cortisol level
OMIM:610489	PRKACA	5566	HP:0000739	Anxiety
OMIM:610489	PRKACA	5566	HP:0000311	Round face
OMIM:610489	PRKACA	5566	HP:0000963	Thin skin
OMIM:610489	PRKACA	5566	HP:0001065	Striae distensae
OMIM:614887	PEX19	5824	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX19	5824	HP:0005469	Flat occiput
OMIM:614887	PEX19	5824	HP:0000478	Abnormality of the eye
OMIM:614887	PEX19	5824	HP:0000239	Large fontanelles
OMIM:614887	PEX19	5824	HP:0000268	Dolichocephaly
OMIM:614887	PEX19	5824	HP:0001250	Seizures
OMIM:614887	PEX19	5824	HP:0000348	High forehead
OMIM:614887	PEX19	5824	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX19	5824	HP:0000325	Triangular face
OMIM:614887	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX19	5824	HP:0002240	Hepatomegaly
OMIM:614887	PEX19	5824	HP:0011968	Feeding difficulties
OMIM:614887	PEX16	9409	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX16	9409	HP:0005469	Flat occiput
OMIM:614887	PEX16	9409	HP:0000478	Abnormality of the eye
OMIM:614887	PEX16	9409	HP:0000239	Large fontanelles
OMIM:614887	PEX16	9409	HP:0000268	Dolichocephaly
OMIM:614887	PEX16	9409	HP:0001250	Seizures
OMIM:614887	PEX16	9409	HP:0000348	High forehead
OMIM:614887	PEX16	9409	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX16	9409	HP:0000325	Triangular face
OMIM:614887	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:614887	PEX16	9409	HP:0011968	Feeding difficulties
OMIM:614887	PEX2	5828	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX2	5828	HP:0005469	Flat occiput
OMIM:614887	PEX2	5828	HP:0000478	Abnormality of the eye
OMIM:614887	PEX2	5828	HP:0000239	Large fontanelles
OMIM:614887	PEX2	5828	HP:0000268	Dolichocephaly
OMIM:614887	PEX2	5828	HP:0001250	Seizures
OMIM:614887	PEX2	5828	HP:0000348	High forehead
OMIM:614887	PEX2	5828	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX2	5828	HP:0000325	Triangular face
OMIM:614887	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:614887	PEX2	5828	HP:0011968	Feeding difficulties
OMIM:614887	PEX1	5189	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX1	5189	HP:0005469	Flat occiput
OMIM:614887	PEX1	5189	HP:0000478	Abnormality of the eye
OMIM:614887	PEX1	5189	HP:0000239	Large fontanelles
OMIM:614887	PEX1	5189	HP:0000268	Dolichocephaly
OMIM:614887	PEX1	5189	HP:0001250	Seizures
OMIM:614887	PEX1	5189	HP:0000348	High forehead
OMIM:614887	PEX1	5189	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX1	5189	HP:0000325	Triangular face
OMIM:614887	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:614887	PEX1	5189	HP:0011968	Feeding difficulties
OMIM:614887	PEX5	5830	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX5	5830	HP:0005469	Flat occiput
OMIM:614887	PEX5	5830	HP:0000478	Abnormality of the eye
OMIM:614887	PEX5	5830	HP:0000239	Large fontanelles
OMIM:614887	PEX5	5830	HP:0000268	Dolichocephaly
OMIM:614887	PEX5	5830	HP:0001250	Seizures
OMIM:614887	PEX5	5830	HP:0000348	High forehead
OMIM:614887	PEX5	5830	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX5	5830	HP:0000325	Triangular face
OMIM:614887	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:614887	PEX5	5830	HP:0011968	Feeding difficulties
OMIM:614887	PEX6	5190	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX6	5190	HP:0005469	Flat occiput
OMIM:614887	PEX6	5190	HP:0000478	Abnormality of the eye
OMIM:614887	PEX6	5190	HP:0000239	Large fontanelles
OMIM:614887	PEX6	5190	HP:0000268	Dolichocephaly
OMIM:614887	PEX6	5190	HP:0001250	Seizures
OMIM:614887	PEX6	5190	HP:0000348	High forehead
OMIM:614887	PEX6	5190	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX6	5190	HP:0000325	Triangular face
OMIM:614887	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:614887	PEX6	5190	HP:0011968	Feeding difficulties
OMIM:614887	PEX10	5192	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX10	5192	HP:0005469	Flat occiput
OMIM:614887	PEX10	5192	HP:0000478	Abnormality of the eye
OMIM:614887	PEX10	5192	HP:0000239	Large fontanelles
OMIM:614887	PEX10	5192	HP:0000268	Dolichocephaly
OMIM:614887	PEX10	5192	HP:0001250	Seizures
OMIM:614887	PEX10	5192	HP:0000348	High forehead
OMIM:614887	PEX10	5192	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX10	5192	HP:0000325	Triangular face
OMIM:614887	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:614887	PEX10	5192	HP:0011968	Feeding difficulties
OMIM:614887	PEX12	5193	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX12	5193	HP:0005469	Flat occiput
OMIM:614887	PEX12	5193	HP:0000478	Abnormality of the eye
OMIM:614887	PEX12	5193	HP:0000239	Large fontanelles
OMIM:614887	PEX12	5193	HP:0000268	Dolichocephaly
OMIM:614887	PEX12	5193	HP:0001250	Seizures
OMIM:614887	PEX12	5193	HP:0000348	High forehead
OMIM:614887	PEX12	5193	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX12	5193	HP:0000325	Triangular face
OMIM:614887	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:614887	PEX12	5193	HP:0011968	Feeding difficulties
OMIM:614887	PEX13	5194	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX13	5194	HP:0005469	Flat occiput
OMIM:614887	PEX13	5194	HP:0000478	Abnormality of the eye
OMIM:614887	PEX13	5194	HP:0000239	Large fontanelles
OMIM:614887	PEX13	5194	HP:0000268	Dolichocephaly
OMIM:614887	PEX13	5194	HP:0001250	Seizures
OMIM:614887	PEX13	5194	HP:0000348	High forehead
OMIM:614887	PEX13	5194	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX13	5194	HP:0000325	Triangular face
OMIM:614887	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX13	5194	HP:0002240	Hepatomegaly
OMIM:614887	PEX13	5194	HP:0011968	Feeding difficulties
OMIM:614887	PEX14	5195	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX14	5195	HP:0005469	Flat occiput
OMIM:614887	PEX14	5195	HP:0000478	Abnormality of the eye
OMIM:614887	PEX14	5195	HP:0000239	Large fontanelles
OMIM:614887	PEX14	5195	HP:0000268	Dolichocephaly
OMIM:614887	PEX14	5195	HP:0001250	Seizures
OMIM:614887	PEX14	5195	HP:0000348	High forehead
OMIM:614887	PEX14	5195	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX14	5195	HP:0000325	Triangular face
OMIM:614887	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:614887	PEX14	5195	HP:0011968	Feeding difficulties
OMIM:614887	PEX26	55670	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX26	55670	HP:0005469	Flat occiput
OMIM:614887	PEX26	55670	HP:0000478	Abnormality of the eye
OMIM:614887	PEX26	55670	HP:0000239	Large fontanelles
OMIM:614887	PEX26	55670	HP:0000268	Dolichocephaly
OMIM:614887	PEX26	55670	HP:0001250	Seizures
OMIM:614887	PEX26	55670	HP:0000348	High forehead
OMIM:614887	PEX26	55670	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX26	55670	HP:0000325	Triangular face
OMIM:614887	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:614887	PEX26	55670	HP:0011968	Feeding difficulties
OMIM:614887	PEX3	8504	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX3	8504	HP:0005469	Flat occiput
OMIM:614887	PEX3	8504	HP:0000478	Abnormality of the eye
OMIM:614887	PEX3	8504	HP:0000239	Large fontanelles
OMIM:614887	PEX3	8504	HP:0000268	Dolichocephaly
OMIM:614887	PEX3	8504	HP:0001250	Seizures
OMIM:614887	PEX3	8504	HP:0000348	High forehead
OMIM:614887	PEX3	8504	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX3	8504	HP:0000325	Triangular face
OMIM:614887	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:614887	PEX3	8504	HP:0011968	Feeding difficulties
OMIM:614887	PEX11B	8799	HP:0002269	Abnormality of neuronal migration
OMIM:614887	PEX11B	8799	HP:0005469	Flat occiput
OMIM:614887	PEX11B	8799	HP:0000478	Abnormality of the eye
OMIM:614887	PEX11B	8799	HP:0000239	Large fontanelles
OMIM:614887	PEX11B	8799	HP:0000268	Dolichocephaly
OMIM:614887	PEX11B	8799	HP:0001250	Seizures
OMIM:614887	PEX11B	8799	HP:0000348	High forehead
OMIM:614887	PEX11B	8799	HP:0000422	Abnormality of the nasal bridge
OMIM:614887	PEX11B	8799	HP:0000325	Triangular face
OMIM:614887	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614887	PEX11B	8799	HP:0002240	Hepatomegaly
OMIM:614887	PEX11B	8799	HP:0011968	Feeding difficulties
OMIM:102900	PKLR	5313	HP:0001901	Polycythemia
OMIM:102900	PKLR	5313	HP:0000006	Autosomal dominant inheritance
OMIM:233100	SLC5A2	6524	HP:0000007	Autosomal recessive inheritance
OMIM:233100	SLC5A2	6524	HP:0003828	Variable expressivity
OMIM:233100	SLC5A2	6524	HP:0000006	Autosomal dominant inheritance
OMIM:137215	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:137215	KRAS	3845	HP:0000204	Cleft upper lip
OMIM:137215	KRAS	3845	HP:0000175	Cleft palate
OMIM:137215	CDH1	999	HP:0000006	Autosomal dominant inheritance
OMIM:137215	CDH1	999	HP:0000204	Cleft upper lip
OMIM:137215	CDH1	999	HP:0000175	Cleft palate
OMIM:137215	CTNNA1	1495	HP:0000006	Autosomal dominant inheritance
OMIM:137215	CTNNA1	1495	HP:0000204	Cleft upper lip
OMIM:137215	CTNNA1	1495	HP:0000175	Cleft palate
OMIM:137215	MAP3K6	9064	HP:0000006	Autosomal dominant inheritance
OMIM:137215	MAP3K6	9064	HP:0000204	Cleft upper lip
OMIM:137215	MAP3K6	9064	HP:0000175	Cleft palate
OMIM:613102	DSC3	1825	HP:0002215	Sparse axillary hair
OMIM:613102	DSC3	1825	HP:0002209	Sparse scalp hair
OMIM:613102	DSC3	1825	HP:0200102	Sparse or absent eyelashes
OMIM:613102	DSC3	1825	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:613102	DSC3	1825	HP:0000007	Autosomal recessive inheritance
OMIM:613877	PLIN1	5346	HP:0000819	Diabetes mellitus
OMIM:613877	PLIN1	5346	HP:0100578	Lipoatrophy
OMIM:613877	PLIN1	5346	HP:0000876	Oligomenorrhea
OMIM:613877	PLIN1	5346	HP:0002155	Hypertriglyceridemia
OMIM:613877	PLIN1	5346	HP:0000822	Hypertension
OMIM:613877	PLIN1	5346	HP:0000006	Autosomal dominant inheritance
OMIM:613877	PLIN1	5346	HP:0000956	Acanthosis nigricans
OMIM:613877	PLIN1	5346	HP:0001397	Hepatic steatosis
OMIM:613877	PLIN1	5346	HP:0003712	Skeletal muscle hypertrophy
OMIM:616322	MUSK	4593	HP:0000467	Neck muscle weakness
OMIM:616322	MUSK	4593	HP:0000602	Ophthalmoplegia
OMIM:616322	MUSK	4593	HP:0002093	Respiratory insufficiency
OMIM:616322	MUSK	4593	HP:0010628	Facial palsy
OMIM:616322	MUSK	4593	HP:0011968	Feeding difficulties
OMIM:616322	MUSK	4593	HP:0000218	High palate
OMIM:616322	MUSK	4593	HP:0000508	Ptosis
OMIM:616322	MUSK	4593	HP:0001252	Muscular hypotonia
OMIM:616322	MUSK	4593	HP:0001558	Decreased fetal movement
OMIM:616322	CHRNB1	1140	HP:0000467	Neck muscle weakness
OMIM:616322	CHRNB1	1140	HP:0000602	Ophthalmoplegia
OMIM:616322	CHRNB1	1140	HP:0002093	Respiratory insufficiency
OMIM:616322	CHRNB1	1140	HP:0010628	Facial palsy
OMIM:616322	CHRNB1	1140	HP:0011968	Feeding difficulties
OMIM:616322	CHRNB1	1140	HP:0000218	High palate
OMIM:616322	CHRNB1	1140	HP:0000508	Ptosis
OMIM:616322	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:616322	CHRNB1	1140	HP:0001558	Decreased fetal movement
OMIM:616322	DOK7	285489	HP:0000467	Neck muscle weakness
OMIM:616322	DOK7	285489	HP:0000602	Ophthalmoplegia
OMIM:616322	DOK7	285489	HP:0002093	Respiratory insufficiency
OMIM:616322	DOK7	285489	HP:0010628	Facial palsy
OMIM:616322	DOK7	285489	HP:0011968	Feeding difficulties
OMIM:616322	DOK7	285489	HP:0000218	High palate
OMIM:616322	DOK7	285489	HP:0000508	Ptosis
OMIM:616322	DOK7	285489	HP:0001252	Muscular hypotonia
OMIM:616322	DOK7	285489	HP:0001558	Decreased fetal movement
OMIM:616322	LRP4	4038	HP:0000467	Neck muscle weakness
OMIM:616322	LRP4	4038	HP:0000602	Ophthalmoplegia
OMIM:616322	LRP4	4038	HP:0002093	Respiratory insufficiency
OMIM:616322	LRP4	4038	HP:0010628	Facial palsy
OMIM:616322	LRP4	4038	HP:0011968	Feeding difficulties
OMIM:616322	LRP4	4038	HP:0000218	High palate
OMIM:616322	LRP4	4038	HP:0000508	Ptosis
OMIM:616322	LRP4	4038	HP:0001252	Muscular hypotonia
OMIM:616322	LRP4	4038	HP:0001558	Decreased fetal movement
OMIM:616322	CHRND	1144	HP:0000467	Neck muscle weakness
OMIM:616322	CHRND	1144	HP:0000602	Ophthalmoplegia
OMIM:616322	CHRND	1144	HP:0002093	Respiratory insufficiency
OMIM:616322	CHRND	1144	HP:0010628	Facial palsy
OMIM:616322	CHRND	1144	HP:0011968	Feeding difficulties
OMIM:616322	CHRND	1144	HP:0000218	High palate
OMIM:616322	CHRND	1144	HP:0000508	Ptosis
OMIM:616322	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:616322	CHRND	1144	HP:0001558	Decreased fetal movement
OMIM:616322	RAPSN	5913	HP:0000467	Neck muscle weakness
OMIM:616322	RAPSN	5913	HP:0000602	Ophthalmoplegia
OMIM:616322	RAPSN	5913	HP:0002093	Respiratory insufficiency
OMIM:616322	RAPSN	5913	HP:0010628	Facial palsy
OMIM:616322	RAPSN	5913	HP:0011968	Feeding difficulties
OMIM:616322	RAPSN	5913	HP:0000218	High palate
OMIM:616322	RAPSN	5913	HP:0000508	Ptosis
OMIM:616322	RAPSN	5913	HP:0001252	Muscular hypotonia
OMIM:616322	RAPSN	5913	HP:0001558	Decreased fetal movement
OMIM:616322	SCN4A	6329	HP:0000467	Neck muscle weakness
OMIM:616322	SCN4A	6329	HP:0000602	Ophthalmoplegia
OMIM:616322	SCN4A	6329	HP:0002093	Respiratory insufficiency
OMIM:616322	SCN4A	6329	HP:0010628	Facial palsy
OMIM:616322	SCN4A	6329	HP:0011968	Feeding difficulties
OMIM:616322	SCN4A	6329	HP:0000218	High palate
OMIM:616322	SCN4A	6329	HP:0000508	Ptosis
OMIM:616322	SCN4A	6329	HP:0001252	Muscular hypotonia
OMIM:616322	SCN4A	6329	HP:0001558	Decreased fetal movement
OMIM:616322	CHRNE	1145	HP:0000467	Neck muscle weakness
OMIM:616322	CHRNE	1145	HP:0000602	Ophthalmoplegia
OMIM:616322	CHRNE	1145	HP:0002093	Respiratory insufficiency
OMIM:616322	CHRNE	1145	HP:0010628	Facial palsy
OMIM:616322	CHRNE	1145	HP:0011968	Feeding difficulties
OMIM:616322	CHRNE	1145	HP:0000218	High palate
OMIM:616322	CHRNE	1145	HP:0000508	Ptosis
OMIM:616322	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:616322	CHRNE	1145	HP:0001558	Decreased fetal movement
OMIM:616322	AGRN	375790	HP:0000467	Neck muscle weakness
OMIM:616322	AGRN	375790	HP:0000602	Ophthalmoplegia
OMIM:616322	AGRN	375790	HP:0002093	Respiratory insufficiency
OMIM:616322	AGRN	375790	HP:0010628	Facial palsy
OMIM:616322	AGRN	375790	HP:0011968	Feeding difficulties
OMIM:616322	AGRN	375790	HP:0000218	High palate
OMIM:616322	AGRN	375790	HP:0000508	Ptosis
OMIM:616322	AGRN	375790	HP:0001252	Muscular hypotonia
OMIM:616322	AGRN	375790	HP:0001558	Decreased fetal movement
OMIM:616322	CHRNA1	1134	HP:0000467	Neck muscle weakness
OMIM:616322	CHRNA1	1134	HP:0000602	Ophthalmoplegia
OMIM:616322	CHRNA1	1134	HP:0002093	Respiratory insufficiency
OMIM:616322	CHRNA1	1134	HP:0010628	Facial palsy
OMIM:616322	CHRNA1	1134	HP:0011968	Feeding difficulties
OMIM:616322	CHRNA1	1134	HP:0000218	High palate
OMIM:616322	CHRNA1	1134	HP:0000508	Ptosis
OMIM:616322	CHRNA1	1134	HP:0001252	Muscular hypotonia
OMIM:616322	CHRNA1	1134	HP:0001558	Decreased fetal movement
OMIM:260300	FBXO7	25793	HP:0003677	Slow progression
OMIM:260300	FBXO7	25793	HP:0011462	Young adult onset
OMIM:260300	FBXO7	25793	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:260300	FBXO7	25793	HP:0001347	Hyperreflexia
OMIM:260300	FBXO7	25793	HP:0002067	Bradykinesia
OMIM:260300	FBXO7	25793	HP:0001260	Dysarthria
OMIM:260300	FBXO7	25793	HP:0001337	Tremor
OMIM:260300	FBXO7	25793	HP:0001762	Talipes equinovarus
OMIM:260300	FBXO7	25793	HP:0002063	Rigidity
OMIM:260300	FBXO7	25793	HP:0003487	Babinski sign
OMIM:260300	FBXO7	25793	HP:0000007	Autosomal recessive inheritance
OMIM:260300	FBXO7	25793	HP:0001332	Dystonia
OMIM:260300	FBXO7	25793	HP:0002172	Postural instability
OMIM:260300	FBXO7	25793	HP:0002061	Lower limb spasticity
OMIM:260300	SNCA	6622	HP:0003677	Slow progression
OMIM:260300	SNCA	6622	HP:0011462	Young adult onset
OMIM:260300	SNCA	6622	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:260300	SNCA	6622	HP:0001347	Hyperreflexia
OMIM:260300	SNCA	6622	HP:0002067	Bradykinesia
OMIM:260300	SNCA	6622	HP:0001260	Dysarthria
OMIM:260300	SNCA	6622	HP:0001337	Tremor
OMIM:260300	SNCA	6622	HP:0001762	Talipes equinovarus
OMIM:260300	SNCA	6622	HP:0002063	Rigidity
OMIM:260300	SNCA	6622	HP:0003487	Babinski sign
OMIM:260300	SNCA	6622	HP:0000007	Autosomal recessive inheritance
OMIM:260300	SNCA	6622	HP:0001332	Dystonia
OMIM:260300	SNCA	6622	HP:0002172	Postural instability
OMIM:260300	SNCA	6622	HP:0002061	Lower limb spasticity
OMIM:609535	CYP2C19	1557	HP:0000007	Autosomal recessive inheritance
OMIM:609535	P2RY12	64805	HP:0000007	Autosomal recessive inheritance
OMIM:614228	DYNC1H1	1778	HP:0001761	Pes cavus
OMIM:614228	DYNC1H1	1778	HP:0003690	Limb muscle weakness
OMIM:614228	DYNC1H1	1778	HP:0003431	Decreased motor nerve conduction velocity
OMIM:614228	DYNC1H1	1778	HP:0001265	Hyporeflexia
OMIM:614228	DYNC1H1	1778	HP:0002460	Distal muscle weakness
OMIM:614228	DYNC1H1	1778	HP:0001270	Motor delay
OMIM:614228	DYNC1H1	1778	HP:0002936	Distal sensory impairment
OMIM:614228	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:614228	DYNC1H1	1778	HP:0002359	Frequent falls
OMIM:614228	DYNC1H1	1778	HP:0003812	Phenotypic variability
OMIM:614228	DYNC1H1	1778	HP:0003677	Slow progression
OMIM:603204	CRH	1392	HP:0000006	Autosomal dominant inheritance
OMIM:603204	CRH	1392	HP:0002133	Status epilepticus
OMIM:603204	CRH	1392	HP:0000718	Aggressive behavior
OMIM:603204	CRH	1392	HP:0002069	Generalized tonic-clonic seizures
OMIM:603204	CHRNA4	1137	HP:0000006	Autosomal dominant inheritance
OMIM:603204	CHRNA4	1137	HP:0002133	Status epilepticus
OMIM:603204	CHRNA4	1137	HP:0000718	Aggressive behavior
OMIM:603204	CHRNA4	1137	HP:0002069	Generalized tonic-clonic seizures
OMIM:603204	DEPDC5	9681	HP:0000006	Autosomal dominant inheritance
OMIM:603204	DEPDC5	9681	HP:0002133	Status epilepticus
OMIM:603204	DEPDC5	9681	HP:0000718	Aggressive behavior
OMIM:603204	DEPDC5	9681	HP:0002069	Generalized tonic-clonic seizures
OMIM:603204	CHRNB2	1141	HP:0000006	Autosomal dominant inheritance
OMIM:603204	CHRNB2	1141	HP:0002133	Status epilepticus
OMIM:603204	CHRNB2	1141	HP:0000718	Aggressive behavior
OMIM:603204	CHRNB2	1141	HP:0002069	Generalized tonic-clonic seizures
OMIM:603204	KCNT1	57582	HP:0000006	Autosomal dominant inheritance
OMIM:603204	KCNT1	57582	HP:0002133	Status epilepticus
OMIM:603204	KCNT1	57582	HP:0000718	Aggressive behavior
OMIM:603204	KCNT1	57582	HP:0002069	Generalized tonic-clonic seizures
OMIM:603204	CHRNA2	1135	HP:0000006	Autosomal dominant inheritance
OMIM:603204	CHRNA2	1135	HP:0002133	Status epilepticus
OMIM:603204	CHRNA2	1135	HP:0000718	Aggressive behavior
OMIM:603204	CHRNA2	1135	HP:0002069	Generalized tonic-clonic seizures
OMIM:101600	FGFR1	2260	HP:0000327	Hypoplasia of the maxilla
OMIM:101600	FGFR1	2260	HP:0002780	Bronchomalacia
OMIM:101600	FGFR1	2260	HP:0000303	Mandibular prognathia
OMIM:101600	FGFR1	2260	HP:0004322	Short stature
OMIM:101600	FGFR1	2260	HP:0000470	Short neck
OMIM:101600	FGFR1	2260	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:101600	FGFR1	2260	HP:0006101	Finger syndactyly
OMIM:101600	FGFR1	2260	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:101600	FGFR1	2260	HP:0000452	Choanal stenosis
OMIM:101600	FGFR1	2260	HP:0010055	Broad hallux
OMIM:101600	FGFR1	2260	HP:0000678	Dental crowding
OMIM:101600	FGFR1	2260	HP:0005048	Synostosis of carpal bones
OMIM:101600	FGFR1	2260	HP:0004440	Coronal craniosynostosis
OMIM:101600	FGFR1	2260	HP:0011304	Broad thumb
OMIM:101600	FGFR1	2260	HP:0000194	Open mouth
OMIM:101600	FGFR1	2260	HP:0004209	Clinodactyly of the 5th finger
OMIM:101600	FGFR1	2260	HP:0009602	Abnormality of thumb phalanx
OMIM:101600	FGFR1	2260	HP:0000238	Hydrocephalus
OMIM:101600	FGFR1	2260	HP:0000324	Facial asymmetry
OMIM:101600	FGFR1	2260	HP:0000508	Ptosis
OMIM:101600	FGFR1	2260	HP:0000218	High palate
OMIM:101600	FGFR1	2260	HP:0003196	Short nose
OMIM:101600	FGFR1	2260	HP:0003307	Hyperlordosis
OMIM:101600	FGFR1	2260	HP:0000316	Hypertelorism
OMIM:101600	FGFR1	2260	HP:0000348	High forehead
OMIM:101600	FGFR1	2260	HP:0003272	Abnormality of the hip bone
OMIM:101600	FGFR1	2260	HP:0005280	Depressed nasal bridge
OMIM:101600	FGFR1	2260	HP:0000272	Malar flattening
OMIM:101600	FGFR1	2260	HP:0000322	Short philtrum
OMIM:101600	FGFR1	2260	HP:0003041	Humeroradial synostosis
OMIM:101600	FGFR1	2260	HP:0000486	Strabismus
OMIM:101600	FGFR1	2260	HP:0002308	Arnold-Chiari malformation
OMIM:101600	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:101600	FGFR1	2260	HP:0000453	Choanal atresia
OMIM:101600	FGFR1	2260	HP:0001156	Brachydactyly syndrome
OMIM:101600	FGFR1	2260	HP:0000174	Abnormality of the palate
OMIM:101600	FGFR1	2260	HP:0000494	Downslanted palpebral fissures
OMIM:101600	FGFR1	2260	HP:0000431	Wide nasal bridge
OMIM:101600	FGFR1	2260	HP:0001249	Intellectual disability
OMIM:101600	FGFR2	2263	HP:0000327	Hypoplasia of the maxilla
OMIM:101600	FGFR2	2263	HP:0002780	Bronchomalacia
OMIM:101600	FGFR2	2263	HP:0000303	Mandibular prognathia
OMIM:101600	FGFR2	2263	HP:0004322	Short stature
OMIM:101600	FGFR2	2263	HP:0000470	Short neck
OMIM:101600	FGFR2	2263	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:101600	FGFR2	2263	HP:0006101	Finger syndactyly
OMIM:101600	FGFR2	2263	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:101600	FGFR2	2263	HP:0000452	Choanal stenosis
OMIM:101600	FGFR2	2263	HP:0010055	Broad hallux
OMIM:101600	FGFR2	2263	HP:0000678	Dental crowding
OMIM:101600	FGFR2	2263	HP:0005048	Synostosis of carpal bones
OMIM:101600	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:101600	FGFR2	2263	HP:0011304	Broad thumb
OMIM:101600	FGFR2	2263	HP:0000194	Open mouth
OMIM:101600	FGFR2	2263	HP:0004209	Clinodactyly of the 5th finger
OMIM:101600	FGFR2	2263	HP:0009602	Abnormality of thumb phalanx
OMIM:101600	FGFR2	2263	HP:0000238	Hydrocephalus
OMIM:101600	FGFR2	2263	HP:0000324	Facial asymmetry
OMIM:101600	FGFR2	2263	HP:0000508	Ptosis
OMIM:101600	FGFR2	2263	HP:0000218	High palate
OMIM:101600	FGFR2	2263	HP:0003196	Short nose
OMIM:101600	FGFR2	2263	HP:0003307	Hyperlordosis
OMIM:101600	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:101600	FGFR2	2263	HP:0000348	High forehead
OMIM:101600	FGFR2	2263	HP:0003272	Abnormality of the hip bone
OMIM:101600	FGFR2	2263	HP:0005280	Depressed nasal bridge
OMIM:101600	FGFR2	2263	HP:0000272	Malar flattening
OMIM:101600	FGFR2	2263	HP:0000322	Short philtrum
OMIM:101600	FGFR2	2263	HP:0003041	Humeroradial synostosis
OMIM:101600	FGFR2	2263	HP:0000486	Strabismus
OMIM:101600	FGFR2	2263	HP:0002308	Arnold-Chiari malformation
OMIM:101600	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:101600	FGFR2	2263	HP:0000453	Choanal atresia
OMIM:101600	FGFR2	2263	HP:0001156	Brachydactyly syndrome
OMIM:101600	FGFR2	2263	HP:0000174	Abnormality of the palate
OMIM:101600	FGFR2	2263	HP:0000494	Downslanted palpebral fissures
OMIM:101600	FGFR2	2263	HP:0000431	Wide nasal bridge
OMIM:101600	FGFR2	2263	HP:0001249	Intellectual disability
OMIM:612576	BHLHA9	727857	HP:0100257	Ectrodactyly
OMIM:612576	BHLHA9	727857	HP:0001171	Split hand
OMIM:612576	BHLHA9	727857	HP:0000006	Autosomal dominant inheritance
OMIM:612576	BHLHA9	727857	HP:0001156	Brachydactyly syndrome
OMIM:612576	BHLHA9	727857	HP:0001762	Talipes equinovarus
OMIM:254300	MUSK	4593	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254300	MUSK	4593	HP:0003394	Muscle cramps
OMIM:254300	MUSK	4593	HP:0003621	Juvenile onset
OMIM:254300	MUSK	4593	HP:0002515	Waddling gait
OMIM:254300	MUSK	4593	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254300	MUSK	4593	HP:0002715	Abnormality of the immune system
OMIM:254300	MUSK	4593	HP:0000007	Autosomal recessive inheritance
OMIM:254300	MUSK	4593	HP:0001283	Bulbar palsy
OMIM:254300	MUSK	4593	HP:0010628	Facial palsy
OMIM:254300	MUSK	4593	HP:0001558	Decreased fetal movement
OMIM:254300	MUSK	4593	HP:0000508	Ptosis
OMIM:254300	MUSK	4593	HP:0000597	Ophthalmoparesis
OMIM:254300	MUSK	4593	HP:0003693	Distal amyotrophy
OMIM:254300	MUSK	4593	HP:0003391	Gowers sign
OMIM:254300	MUSK	4593	HP:0007126	Proximal amyotrophy
OMIM:254300	CHRNB1	1140	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254300	CHRNB1	1140	HP:0003394	Muscle cramps
OMIM:254300	CHRNB1	1140	HP:0003621	Juvenile onset
OMIM:254300	CHRNB1	1140	HP:0002515	Waddling gait
OMIM:254300	CHRNB1	1140	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254300	CHRNB1	1140	HP:0002715	Abnormality of the immune system
OMIM:254300	CHRNB1	1140	HP:0000007	Autosomal recessive inheritance
OMIM:254300	CHRNB1	1140	HP:0001283	Bulbar palsy
OMIM:254300	CHRNB1	1140	HP:0010628	Facial palsy
OMIM:254300	CHRNB1	1140	HP:0001558	Decreased fetal movement
OMIM:254300	CHRNB1	1140	HP:0000508	Ptosis
OMIM:254300	CHRNB1	1140	HP:0000597	Ophthalmoparesis
OMIM:254300	CHRNB1	1140	HP:0003693	Distal amyotrophy
OMIM:254300	CHRNB1	1140	HP:0003391	Gowers sign
OMIM:254300	CHRNB1	1140	HP:0007126	Proximal amyotrophy
OMIM:254300	DOK7	285489	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254300	DOK7	285489	HP:0003394	Muscle cramps
OMIM:254300	DOK7	285489	HP:0003621	Juvenile onset
OMIM:254300	DOK7	285489	HP:0002515	Waddling gait
OMIM:254300	DOK7	285489	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254300	DOK7	285489	HP:0002715	Abnormality of the immune system
OMIM:254300	DOK7	285489	HP:0000007	Autosomal recessive inheritance
OMIM:254300	DOK7	285489	HP:0001283	Bulbar palsy
OMIM:254300	DOK7	285489	HP:0010628	Facial palsy
OMIM:254300	DOK7	285489	HP:0001558	Decreased fetal movement
OMIM:254300	DOK7	285489	HP:0000508	Ptosis
OMIM:254300	DOK7	285489	HP:0000597	Ophthalmoparesis
OMIM:254300	DOK7	285489	HP:0003693	Distal amyotrophy
OMIM:254300	DOK7	285489	HP:0003391	Gowers sign
OMIM:254300	DOK7	285489	HP:0007126	Proximal amyotrophy
OMIM:254300	LRP4	4038	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254300	LRP4	4038	HP:0003394	Muscle cramps
OMIM:254300	LRP4	4038	HP:0003621	Juvenile onset
OMIM:254300	LRP4	4038	HP:0002515	Waddling gait
OMIM:254300	LRP4	4038	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254300	LRP4	4038	HP:0002715	Abnormality of the immune system
OMIM:254300	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:254300	LRP4	4038	HP:0001283	Bulbar palsy
OMIM:254300	LRP4	4038	HP:0010628	Facial palsy
OMIM:254300	LRP4	4038	HP:0001558	Decreased fetal movement
OMIM:254300	LRP4	4038	HP:0000508	Ptosis
OMIM:254300	LRP4	4038	HP:0000597	Ophthalmoparesis
OMIM:254300	LRP4	4038	HP:0003693	Distal amyotrophy
OMIM:254300	LRP4	4038	HP:0003391	Gowers sign
OMIM:254300	LRP4	4038	HP:0007126	Proximal amyotrophy
OMIM:254300	CHRND	1144	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254300	CHRND	1144	HP:0003394	Muscle cramps
OMIM:254300	CHRND	1144	HP:0003621	Juvenile onset
OMIM:254300	CHRND	1144	HP:0002515	Waddling gait
OMIM:254300	CHRND	1144	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254300	CHRND	1144	HP:0002715	Abnormality of the immune system
OMIM:254300	CHRND	1144	HP:0000007	Autosomal recessive inheritance
OMIM:254300	CHRND	1144	HP:0001283	Bulbar palsy
OMIM:254300	CHRND	1144	HP:0010628	Facial palsy
OMIM:254300	CHRND	1144	HP:0001558	Decreased fetal movement
OMIM:254300	CHRND	1144	HP:0000508	Ptosis
OMIM:254300	CHRND	1144	HP:0000597	Ophthalmoparesis
OMIM:254300	CHRND	1144	HP:0003693	Distal amyotrophy
OMIM:254300	CHRND	1144	HP:0003391	Gowers sign
OMIM:254300	CHRND	1144	HP:0007126	Proximal amyotrophy
OMIM:254300	RAPSN	5913	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254300	RAPSN	5913	HP:0003394	Muscle cramps
OMIM:254300	RAPSN	5913	HP:0003621	Juvenile onset
OMIM:254300	RAPSN	5913	HP:0002515	Waddling gait
OMIM:254300	RAPSN	5913	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254300	RAPSN	5913	HP:0002715	Abnormality of the immune system
OMIM:254300	RAPSN	5913	HP:0000007	Autosomal recessive inheritance
OMIM:254300	RAPSN	5913	HP:0001283	Bulbar palsy
OMIM:254300	RAPSN	5913	HP:0010628	Facial palsy
OMIM:254300	RAPSN	5913	HP:0001558	Decreased fetal movement
OMIM:254300	RAPSN	5913	HP:0000508	Ptosis
OMIM:254300	RAPSN	5913	HP:0000597	Ophthalmoparesis
OMIM:254300	RAPSN	5913	HP:0003693	Distal amyotrophy
OMIM:254300	RAPSN	5913	HP:0003391	Gowers sign
OMIM:254300	RAPSN	5913	HP:0007126	Proximal amyotrophy
OMIM:254300	SCN4A	6329	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254300	SCN4A	6329	HP:0003394	Muscle cramps
OMIM:254300	SCN4A	6329	HP:0003621	Juvenile onset
OMIM:254300	SCN4A	6329	HP:0002515	Waddling gait
OMIM:254300	SCN4A	6329	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254300	SCN4A	6329	HP:0002715	Abnormality of the immune system
OMIM:254300	SCN4A	6329	HP:0000007	Autosomal recessive inheritance
OMIM:254300	SCN4A	6329	HP:0001283	Bulbar palsy
OMIM:254300	SCN4A	6329	HP:0010628	Facial palsy
OMIM:254300	SCN4A	6329	HP:0001558	Decreased fetal movement
OMIM:254300	SCN4A	6329	HP:0000508	Ptosis
OMIM:254300	SCN4A	6329	HP:0000597	Ophthalmoparesis
OMIM:254300	SCN4A	6329	HP:0003693	Distal amyotrophy
OMIM:254300	SCN4A	6329	HP:0003391	Gowers sign
OMIM:254300	SCN4A	6329	HP:0007126	Proximal amyotrophy
OMIM:254300	CHRNE	1145	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254300	CHRNE	1145	HP:0003394	Muscle cramps
OMIM:254300	CHRNE	1145	HP:0003621	Juvenile onset
OMIM:254300	CHRNE	1145	HP:0002515	Waddling gait
OMIM:254300	CHRNE	1145	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254300	CHRNE	1145	HP:0002715	Abnormality of the immune system
OMIM:254300	CHRNE	1145	HP:0000007	Autosomal recessive inheritance
OMIM:254300	CHRNE	1145	HP:0001283	Bulbar palsy
OMIM:254300	CHRNE	1145	HP:0010628	Facial palsy
OMIM:254300	CHRNE	1145	HP:0001558	Decreased fetal movement
OMIM:254300	CHRNE	1145	HP:0000508	Ptosis
OMIM:254300	CHRNE	1145	HP:0000597	Ophthalmoparesis
OMIM:254300	CHRNE	1145	HP:0003693	Distal amyotrophy
OMIM:254300	CHRNE	1145	HP:0003391	Gowers sign
OMIM:254300	CHRNE	1145	HP:0007126	Proximal amyotrophy
OMIM:254300	AGRN	375790	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254300	AGRN	375790	HP:0003394	Muscle cramps
OMIM:254300	AGRN	375790	HP:0003621	Juvenile onset
OMIM:254300	AGRN	375790	HP:0002515	Waddling gait
OMIM:254300	AGRN	375790	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254300	AGRN	375790	HP:0002715	Abnormality of the immune system
OMIM:254300	AGRN	375790	HP:0000007	Autosomal recessive inheritance
OMIM:254300	AGRN	375790	HP:0001283	Bulbar palsy
OMIM:254300	AGRN	375790	HP:0010628	Facial palsy
OMIM:254300	AGRN	375790	HP:0001558	Decreased fetal movement
OMIM:254300	AGRN	375790	HP:0000508	Ptosis
OMIM:254300	AGRN	375790	HP:0000597	Ophthalmoparesis
OMIM:254300	AGRN	375790	HP:0003693	Distal amyotrophy
OMIM:254300	AGRN	375790	HP:0003391	Gowers sign
OMIM:254300	AGRN	375790	HP:0007126	Proximal amyotrophy
OMIM:254300	CHRNA1	1134	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254300	CHRNA1	1134	HP:0003394	Muscle cramps
OMIM:254300	CHRNA1	1134	HP:0003621	Juvenile onset
OMIM:254300	CHRNA1	1134	HP:0002515	Waddling gait
OMIM:254300	CHRNA1	1134	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254300	CHRNA1	1134	HP:0002715	Abnormality of the immune system
OMIM:254300	CHRNA1	1134	HP:0000007	Autosomal recessive inheritance
OMIM:254300	CHRNA1	1134	HP:0001283	Bulbar palsy
OMIM:254300	CHRNA1	1134	HP:0010628	Facial palsy
OMIM:254300	CHRNA1	1134	HP:0001558	Decreased fetal movement
OMIM:254300	CHRNA1	1134	HP:0000508	Ptosis
OMIM:254300	CHRNA1	1134	HP:0000597	Ophthalmoparesis
OMIM:254300	CHRNA1	1134	HP:0003693	Distal amyotrophy
OMIM:254300	CHRNA1	1134	HP:0003391	Gowers sign
OMIM:254300	CHRNA1	1134	HP:0007126	Proximal amyotrophy
OMIM:149200	GJB2	2706	HP:0000982	Palmoplantar keratoderma
OMIM:149200	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:149200	GJB2	2706	HP:0000365	Hearing impairment
OMIM:149200	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:605407	TH	7054	HP:0000007	Autosomal recessive inheritance
OMIM:605407	TH	7054	HP:0000298	Mask-like facies
OMIM:605407	TH	7054	HP:0001300	Parkinsonism
OMIM:605407	TH	7054	HP:0002066	Gait ataxia
OMIM:605407	TH	7054	HP:0001336	Myoclonus
OMIM:605407	TH	7054	HP:0000750	Delayed speech and language development
OMIM:605407	TH	7054	HP:0002063	Rigidity
OMIM:605407	TH	7054	HP:0003828	Variable expressivity
OMIM:605407	TH	7054	HP:0001337	Tremor
OMIM:605407	TH	7054	HP:0002451	Limb dystonia
OMIM:605407	TH	7054	HP:0001270	Motor delay
OMIM:605407	TH	7054	HP:0008936	Muscular hypotonia of the trunk
OMIM:605407	TH	7054	HP:0000508	Ptosis
OMIM:605407	TH	7054	HP:0003593	Infantile onset
OMIM:615812	DYRK1B	9149	HP:0001297	Stroke
OMIM:615812	DYRK1B	9149	HP:0003124	Hypercholesterolemia
OMIM:615812	DYRK1B	9149	HP:0001956	Truncal obesity
OMIM:615812	DYRK1B	9149	HP:0000822	Hypertension
OMIM:601001	KRT14	3861	HP:0001903	Anemia
OMIM:601001	KRT14	3861	HP:0000007	Autosomal recessive inheritance
OMIM:601001	KRT14	3861	HP:0000982	Palmoplantar keratoderma
OMIM:601001	KRT14	3861	HP:0003828	Variable expressivity
OMIM:601001	KRT14	3861	HP:0001597	Abnormality of the nail
OMIM:601001	KRT14	3861	HP:0000670	Carious teeth
OMIM:601001	KRT14	3861	HP:0008064	Ichthyosis
OMIM:601001	KRT14	3861	HP:0003577	Congenital onset
OMIM:601001	KRT5	3852	HP:0001903	Anemia
OMIM:601001	KRT5	3852	HP:0000007	Autosomal recessive inheritance
OMIM:601001	KRT5	3852	HP:0000982	Palmoplantar keratoderma
OMIM:601001	KRT5	3852	HP:0003828	Variable expressivity
OMIM:601001	KRT5	3852	HP:0001597	Abnormality of the nail
OMIM:601001	KRT5	3852	HP:0000670	Carious teeth
OMIM:601001	KRT5	3852	HP:0008064	Ichthyosis
OMIM:601001	KRT5	3852	HP:0003577	Congenital onset
OMIM:606690	TSC1	7248	HP:0002027	Abdominal pain
OMIM:606690	TSC1	7248	HP:0100749	Chest pain
OMIM:606690	TSC1	7248	HP:0001004	Lymphedema
OMIM:606690	TSC1	7248	HP:0002205	Recurrent respiratory infections
OMIM:606690	TSC1	7248	HP:0002239	Gastrointestinal hemorrhage
OMIM:606690	TSC1	7248	HP:0002716	Lymphadenopathy
OMIM:606690	TSC1	7248	HP:0001250	Seizures
OMIM:606690	TSC1	7248	HP:0002091	Restrictive lung disease
OMIM:606690	TSC1	7248	HP:0100750	Atelectasis
OMIM:606690	TSC1	7248	HP:0000238	Hydrocephalus
OMIM:606690	TSC1	7248	HP:0000003	Multicystic kidney dysplasia
OMIM:606690	TSC1	7248	HP:0001541	Ascites
OMIM:606690	TSC1	7248	HP:0002113	Pulmonary infiltrates
OMIM:606690	TSC1	7248	HP:0009726	Renal neoplasm
OMIM:606690	TSC1	7248	HP:0001034	Hypermelanotic macule
OMIM:606690	TSC1	7248	HP:0002097	Emphysema
OMIM:606690	TSC1	7248	HP:0000008	Abnormality of female internal genitalia
OMIM:606690	TSC1	7248	HP:0000790	Hematuria
OMIM:606690	TSC1	7248	HP:0000113	Polycystic kidney dysplasia
OMIM:606690	TSC1	7248	HP:0100543	Cognitive impairment
OMIM:606690	TSC1	7248	HP:0000648	Optic atrophy
OMIM:606690	TSC1	7248	HP:0002093	Respiratory insufficiency
OMIM:606690	TSC1	7248	HP:0004370	Abnormality of temperature regulation
OMIM:606690	TSC2	7249	HP:0002027	Abdominal pain
OMIM:606690	TSC2	7249	HP:0100749	Chest pain
OMIM:606690	TSC2	7249	HP:0001004	Lymphedema
OMIM:606690	TSC2	7249	HP:0002205	Recurrent respiratory infections
OMIM:606690	TSC2	7249	HP:0002239	Gastrointestinal hemorrhage
OMIM:606690	TSC2	7249	HP:0002716	Lymphadenopathy
OMIM:606690	TSC2	7249	HP:0001250	Seizures
OMIM:606690	TSC2	7249	HP:0002091	Restrictive lung disease
OMIM:606690	TSC2	7249	HP:0100750	Atelectasis
OMIM:606690	TSC2	7249	HP:0000238	Hydrocephalus
OMIM:606690	TSC2	7249	HP:0000003	Multicystic kidney dysplasia
OMIM:606690	TSC2	7249	HP:0001541	Ascites
OMIM:606690	TSC2	7249	HP:0002113	Pulmonary infiltrates
OMIM:606690	TSC2	7249	HP:0009726	Renal neoplasm
OMIM:606690	TSC2	7249	HP:0001034	Hypermelanotic macule
OMIM:606690	TSC2	7249	HP:0002097	Emphysema
OMIM:606690	TSC2	7249	HP:0000008	Abnormality of female internal genitalia
OMIM:606690	TSC2	7249	HP:0000790	Hematuria
OMIM:606690	TSC2	7249	HP:0000113	Polycystic kidney dysplasia
OMIM:606690	TSC2	7249	HP:0100543	Cognitive impairment
OMIM:606690	TSC2	7249	HP:0000648	Optic atrophy
OMIM:606690	TSC2	7249	HP:0002093	Respiratory insufficiency
OMIM:606690	TSC2	7249	HP:0004370	Abnormality of temperature regulation
OMIM:102370	FBN1	2200	HP:0001072	Thickened skin
OMIM:102370	FBN1	2200	HP:0001773	Short foot
OMIM:102370	FBN1	2200	HP:0000478	Abnormality of the eye
OMIM:102370	FBN1	2200	HP:0000311	Round face
OMIM:102370	FBN1	2200	HP:0000343	Long philtrum
OMIM:102370	FBN1	2200	HP:0000463	Anteverted nares
OMIM:102370	FBN1	2200	HP:0002750	Delayed skeletal maturation
OMIM:102370	FBN1	2200	HP:0000762	Decreased nerve conduction velocity
OMIM:102370	FBN1	2200	HP:0004279	Short palm
OMIM:102370	FBN1	2200	HP:0001156	Brachydactyly syndrome
OMIM:102370	FBN1	2200	HP:0003300	Ovoid vertebral bodies
OMIM:102370	FBN1	2200	HP:0000179	Thick lower lip vermilion
OMIM:102370	FBN1	2200	HP:0000527	Long eyelashes
OMIM:102370	FBN1	2200	HP:0001609	Hoarse voice
OMIM:102370	FBN1	2200	HP:0003026	Short long bone
OMIM:102370	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:102370	FBN1	2200	HP:0000160	Narrow mouth
OMIM:102370	FBN1	2200	HP:0002823	Abnormality of the femur
OMIM:102370	FBN1	2200	HP:0001376	Limitation of joint mobility
OMIM:102370	FBN1	2200	HP:0010049	Short metacarpal
OMIM:102370	FBN1	2200	HP:0010579	Cone-shaped epiphysis
OMIM:102370	FBN1	2200	HP:0003196	Short nose
OMIM:102370	FBN1	2200	HP:0000414	Bulbous nose
OMIM:102370	FBN1	2200	HP:0009803	Short phalanx of finger
OMIM:102370	FBN1	2200	HP:0003510	Severe short stature
OMIM:253550	SMN1	6606	HP:0003457	EMG abnormality
OMIM:253550	SMN1	6606	HP:0002398	Degeneration of anterior horn cells
OMIM:253550	SMN1	6606	HP:0002205	Recurrent respiratory infections
OMIM:253550	SMN1	6606	HP:0000007	Autosomal recessive inheritance
OMIM:253550	SMN1	6606	HP:0001324	Muscle weakness
OMIM:253550	SMN1	6606	HP:0001308	Tongue fasciculations
OMIM:253550	SMN1	6606	HP:0007269	Spinal muscular atrophy
OMIM:253550	SMN2	6607	HP:0003457	EMG abnormality
OMIM:253550	SMN2	6607	HP:0002398	Degeneration of anterior horn cells
OMIM:253550	SMN2	6607	HP:0002205	Recurrent respiratory infections
OMIM:253550	SMN2	6607	HP:0000007	Autosomal recessive inheritance
OMIM:253550	SMN2	6607	HP:0001324	Muscle weakness
OMIM:253550	SMN2	6607	HP:0001308	Tongue fasciculations
OMIM:253550	SMN2	6607	HP:0007269	Spinal muscular atrophy
OMIM:253550	NAIP	4671	HP:0003457	EMG abnormality
OMIM:253550	NAIP	4671	HP:0002398	Degeneration of anterior horn cells
OMIM:253550	NAIP	4671	HP:0002205	Recurrent respiratory infections
OMIM:253550	NAIP	4671	HP:0000007	Autosomal recessive inheritance
OMIM:253550	NAIP	4671	HP:0001324	Muscle weakness
OMIM:253550	NAIP	4671	HP:0001308	Tongue fasciculations
OMIM:253550	NAIP	4671	HP:0007269	Spinal muscular atrophy
OMIM:613194	RLBP1	6017	HP:0000541	Retinal detachment
OMIM:613194	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:613194	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613194	RLBP1	6017	HP:0012045	Retinal flecks
OMIM:613194	RLBP1	6017	HP:0007663	Reduced visual acuity
OMIM:613194	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:613194	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613194	RLBP1	6017	HP:0000512	Abnormal electroretinogram
OMIM:613194	SPATA7	55812	HP:0000541	Retinal detachment
OMIM:613194	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:613194	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613194	SPATA7	55812	HP:0012045	Retinal flecks
OMIM:613194	SPATA7	55812	HP:0007663	Reduced visual acuity
OMIM:613194	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:613194	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613194	SPATA7	55812	HP:0000512	Abnormal electroretinogram
OMIM:613194	ARL6	84100	HP:0000541	Retinal detachment
OMIM:613194	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:613194	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613194	ARL6	84100	HP:0012045	Retinal flecks
OMIM:613194	ARL6	84100	HP:0007663	Reduced visual acuity
OMIM:613194	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:613194	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613194	ARL6	84100	HP:0000512	Abnormal electroretinogram
OMIM:613194	CERKL	375298	HP:0000541	Retinal detachment
OMIM:613194	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:613194	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613194	CERKL	375298	HP:0012045	Retinal flecks
OMIM:613194	CERKL	375298	HP:0007663	Reduced visual acuity
OMIM:613194	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:613194	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613194	CERKL	375298	HP:0000512	Abnormal electroretinogram
OMIM:613194	PRPF31	26121	HP:0000541	Retinal detachment
OMIM:613194	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:613194	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613194	PRPF31	26121	HP:0012045	Retinal flecks
OMIM:613194	PRPF31	26121	HP:0007663	Reduced visual acuity
OMIM:613194	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:613194	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613194	PRPF31	26121	HP:0000512	Abnormal electroretinogram
OMIM:613194	TTC8	123016	HP:0000541	Retinal detachment
OMIM:613194	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:613194	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613194	TTC8	123016	HP:0012045	Retinal flecks
OMIM:613194	TTC8	123016	HP:0007663	Reduced visual acuity
OMIM:613194	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:613194	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613194	TTC8	123016	HP:0000512	Abnormal electroretinogram
OMIM:613194	PROM1	8842	HP:0000541	Retinal detachment
OMIM:613194	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:613194	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613194	PROM1	8842	HP:0012045	Retinal flecks
OMIM:613194	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:613194	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:613194	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613194	PROM1	8842	HP:0000512	Abnormal electroretinogram
OMIM:613194	LRAT	9227	HP:0000541	Retinal detachment
OMIM:613194	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:613194	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613194	LRAT	9227	HP:0012045	Retinal flecks
OMIM:613194	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:613194	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:613194	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613194	LRAT	9227	HP:0000512	Abnormal electroretinogram
OMIM:613194	IFT140	9742	HP:0000541	Retinal detachment
OMIM:613194	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:613194	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613194	IFT140	9742	HP:0012045	Retinal flecks
OMIM:613194	IFT140	9742	HP:0007663	Reduced visual acuity
OMIM:613194	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:613194	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613194	IFT140	9742	HP:0000512	Abnormal electroretinogram
OMIM:613194	BEST1	7439	HP:0000541	Retinal detachment
OMIM:613194	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:613194	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613194	BEST1	7439	HP:0012045	Retinal flecks
OMIM:613194	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:613194	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:613194	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613194	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:613194	NEK2	4751	HP:0000541	Retinal detachment
OMIM:613194	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:613194	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613194	NEK2	4751	HP:0012045	Retinal flecks
OMIM:613194	NEK2	4751	HP:0007663	Reduced visual acuity
OMIM:613194	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:613194	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613194	NEK2	4751	HP:0000512	Abnormal electroretinogram
OMIM:613194	ARL2BP	23568	HP:0000541	Retinal detachment
OMIM:613194	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:613194	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613194	ARL2BP	23568	HP:0012045	Retinal flecks
OMIM:613194	ARL2BP	23568	HP:0007663	Reduced visual acuity
OMIM:613194	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:613194	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613194	ARL2BP	23568	HP:0000512	Abnormal electroretinogram
OMIM:613194	NR2E3	10002	HP:0000541	Retinal detachment
OMIM:613194	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:613194	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613194	NR2E3	10002	HP:0012045	Retinal flecks
OMIM:613194	NR2E3	10002	HP:0007663	Reduced visual acuity
OMIM:613194	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:613194	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613194	NR2E3	10002	HP:0000512	Abnormal electroretinogram
OMIM:613194	EYS	346007	HP:0000541	Retinal detachment
OMIM:613194	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:613194	EYS	346007	HP:0000662	Nyctalopia
OMIM:613194	EYS	346007	HP:0012045	Retinal flecks
OMIM:613194	EYS	346007	HP:0007663	Reduced visual acuity
OMIM:613194	EYS	346007	HP:0000543	Optic disc pallor
OMIM:613194	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613194	EYS	346007	HP:0000512	Abnormal electroretinogram
OMIM:613194	MAK	4117	HP:0000541	Retinal detachment
OMIM:613194	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:613194	MAK	4117	HP:0000662	Nyctalopia
OMIM:613194	MAK	4117	HP:0012045	Retinal flecks
OMIM:613194	MAK	4117	HP:0007663	Reduced visual acuity
OMIM:613194	MAK	4117	HP:0000543	Optic disc pallor
OMIM:613194	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613194	MAK	4117	HP:0000512	Abnormal electroretinogram
OMIM:613194	SAG	6295	HP:0000541	Retinal detachment
OMIM:613194	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:613194	SAG	6295	HP:0000662	Nyctalopia
OMIM:613194	SAG	6295	HP:0012045	Retinal flecks
OMIM:613194	SAG	6295	HP:0007663	Reduced visual acuity
OMIM:613194	SAG	6295	HP:0000543	Optic disc pallor
OMIM:613194	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613194	SAG	6295	HP:0000512	Abnormal electroretinogram
OMIM:613194	ABCA4	24	HP:0000541	Retinal detachment
OMIM:613194	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:613194	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613194	ABCA4	24	HP:0012045	Retinal flecks
OMIM:613194	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:613194	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:613194	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613194	ABCA4	24	HP:0000512	Abnormal electroretinogram
OMIM:613194	PDE6A	5145	HP:0000541	Retinal detachment
OMIM:613194	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:613194	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613194	PDE6A	5145	HP:0012045	Retinal flecks
OMIM:613194	PDE6A	5145	HP:0007663	Reduced visual acuity
OMIM:613194	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:613194	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613194	PDE6A	5145	HP:0000512	Abnormal electroretinogram
OMIM:613194	PDE6G	5148	HP:0000541	Retinal detachment
OMIM:613194	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:613194	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613194	PDE6G	5148	HP:0012045	Retinal flecks
OMIM:613194	PDE6G	5148	HP:0007663	Reduced visual acuity
OMIM:613194	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:613194	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613194	PDE6G	5148	HP:0000512	Abnormal electroretinogram
OMIM:613194	IMPDH1	3614	HP:0000541	Retinal detachment
OMIM:613194	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:613194	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613194	IMPDH1	3614	HP:0012045	Retinal flecks
OMIM:613194	IMPDH1	3614	HP:0007663	Reduced visual acuity
OMIM:613194	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:613194	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613194	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
OMIM:613194	OFD1	8481	HP:0000541	Retinal detachment
OMIM:613194	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:613194	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613194	OFD1	8481	HP:0012045	Retinal flecks
OMIM:613194	OFD1	8481	HP:0007663	Reduced visual acuity
OMIM:613194	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:613194	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613194	OFD1	8481	HP:0000512	Abnormal electroretinogram
OMIM:613194	GUCA1B	2979	HP:0000541	Retinal detachment
OMIM:613194	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:613194	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613194	GUCA1B	2979	HP:0012045	Retinal flecks
OMIM:613194	GUCA1B	2979	HP:0007663	Reduced visual acuity
OMIM:613194	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:613194	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613194	GUCA1B	2979	HP:0000512	Abnormal electroretinogram
OMIM:613194	NRL	4901	HP:0000541	Retinal detachment
OMIM:613194	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:613194	NRL	4901	HP:0000662	Nyctalopia
OMIM:613194	NRL	4901	HP:0012045	Retinal flecks
OMIM:613194	NRL	4901	HP:0007663	Reduced visual acuity
OMIM:613194	NRL	4901	HP:0000543	Optic disc pallor
OMIM:613194	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613194	NRL	4901	HP:0000512	Abnormal electroretinogram
OMIM:613194	PDE6B	5158	HP:0000541	Retinal detachment
OMIM:613194	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:613194	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613194	PDE6B	5158	HP:0012045	Retinal flecks
OMIM:613194	PDE6B	5158	HP:0007663	Reduced visual acuity
OMIM:613194	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:613194	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613194	PDE6B	5158	HP:0000512	Abnormal electroretinogram
OMIM:613194	KLHL7	55975	HP:0000541	Retinal detachment
OMIM:613194	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:613194	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613194	KLHL7	55975	HP:0012045	Retinal flecks
OMIM:613194	KLHL7	55975	HP:0007663	Reduced visual acuity
OMIM:613194	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:613194	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613194	KLHL7	55975	HP:0000512	Abnormal electroretinogram
OMIM:613194	PRPF4	9128	HP:0000541	Retinal detachment
OMIM:613194	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:613194	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613194	PRPF4	9128	HP:0012045	Retinal flecks
OMIM:613194	PRPF4	9128	HP:0007663	Reduced visual acuity
OMIM:613194	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:613194	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613194	PRPF4	9128	HP:0000512	Abnormal electroretinogram
OMIM:613194	PRPF3	9129	HP:0000541	Retinal detachment
OMIM:613194	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:613194	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613194	PRPF3	9129	HP:0012045	Retinal flecks
OMIM:613194	PRPF3	9129	HP:0007663	Reduced visual acuity
OMIM:613194	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:613194	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613194	PRPF3	9129	HP:0000512	Abnormal electroretinogram
OMIM:613194	FAM161A	84140	HP:0000541	Retinal detachment
OMIM:613194	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:613194	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613194	FAM161A	84140	HP:0012045	Retinal flecks
OMIM:613194	FAM161A	84140	HP:0007663	Reduced visual acuity
OMIM:613194	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:613194	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613194	FAM161A	84140	HP:0000512	Abnormal electroretinogram
OMIM:613194	IFT172	26160	HP:0000541	Retinal detachment
OMIM:613194	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:613194	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613194	IFT172	26160	HP:0012045	Retinal flecks
OMIM:613194	IFT172	26160	HP:0007663	Reduced visual acuity
OMIM:613194	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:613194	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613194	IFT172	26160	HP:0000512	Abnormal electroretinogram
OMIM:613194	KIZ	55857	HP:0000541	Retinal detachment
OMIM:613194	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:613194	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613194	KIZ	55857	HP:0012045	Retinal flecks
OMIM:613194	KIZ	55857	HP:0007663	Reduced visual acuity
OMIM:613194	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:613194	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613194	KIZ	55857	HP:0000512	Abnormal electroretinogram
OMIM:613194	CDHR1	92211	HP:0000541	Retinal detachment
OMIM:613194	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:613194	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613194	CDHR1	92211	HP:0012045	Retinal flecks
OMIM:613194	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:613194	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:613194	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613194	CDHR1	92211	HP:0000512	Abnormal electroretinogram
OMIM:613194	ZNF408	79797	HP:0000541	Retinal detachment
OMIM:613194	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:613194	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613194	ZNF408	79797	HP:0012045	Retinal flecks
OMIM:613194	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:613194	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:613194	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613194	ZNF408	79797	HP:0000512	Abnormal electroretinogram
OMIM:613194	RBP3	5949	HP:0000541	Retinal detachment
OMIM:613194	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:613194	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613194	RBP3	5949	HP:0012045	Retinal flecks
OMIM:613194	RBP3	5949	HP:0007663	Reduced visual acuity
OMIM:613194	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:613194	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613194	RBP3	5949	HP:0000512	Abnormal electroretinogram
OMIM:613194	HGSNAT	138050	HP:0000541	Retinal detachment
OMIM:613194	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:613194	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613194	HGSNAT	138050	HP:0012045	Retinal flecks
OMIM:613194	HGSNAT	138050	HP:0007663	Reduced visual acuity
OMIM:613194	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:613194	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613194	HGSNAT	138050	HP:0000512	Abnormal electroretinogram
OMIM:613194	FSCN2	25794	HP:0000541	Retinal detachment
OMIM:613194	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:613194	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613194	FSCN2	25794	HP:0012045	Retinal flecks
OMIM:613194	FSCN2	25794	HP:0007663	Reduced visual acuity
OMIM:613194	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:613194	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613194	FSCN2	25794	HP:0000512	Abnormal electroretinogram
OMIM:613194	PRCD	768206	HP:0000541	Retinal detachment
OMIM:613194	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:613194	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613194	PRCD	768206	HP:0012045	Retinal flecks
OMIM:613194	PRCD	768206	HP:0007663	Reduced visual acuity
OMIM:613194	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:613194	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613194	PRCD	768206	HP:0000512	Abnormal electroretinogram
OMIM:613194	BBS2	583	HP:0000541	Retinal detachment
OMIM:613194	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:613194	BBS2	583	HP:0000662	Nyctalopia
OMIM:613194	BBS2	583	HP:0012045	Retinal flecks
OMIM:613194	BBS2	583	HP:0007663	Reduced visual acuity
OMIM:613194	BBS2	583	HP:0000543	Optic disc pallor
OMIM:613194	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613194	BBS2	583	HP:0000512	Abnormal electroretinogram
OMIM:613194	RDH12	145226	HP:0000541	Retinal detachment
OMIM:613194	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:613194	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613194	RDH12	145226	HP:0012045	Retinal flecks
OMIM:613194	RDH12	145226	HP:0007663	Reduced visual acuity
OMIM:613194	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:613194	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613194	RDH12	145226	HP:0000512	Abnormal electroretinogram
OMIM:613194	PRPH2	5961	HP:0000541	Retinal detachment
OMIM:613194	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:613194	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613194	PRPH2	5961	HP:0012045	Retinal flecks
OMIM:613194	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:613194	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:613194	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613194	PRPH2	5961	HP:0000512	Abnormal electroretinogram
OMIM:613194	DHDDS	79947	HP:0000541	Retinal detachment
OMIM:613194	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:613194	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613194	DHDDS	79947	HP:0012045	Retinal flecks
OMIM:613194	DHDDS	79947	HP:0007663	Reduced visual acuity
OMIM:613194	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:613194	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613194	DHDDS	79947	HP:0000512	Abnormal electroretinogram
OMIM:613194	ROM1	6094	HP:0000541	Retinal detachment
OMIM:613194	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:613194	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613194	ROM1	6094	HP:0012045	Retinal flecks
OMIM:613194	ROM1	6094	HP:0007663	Reduced visual acuity
OMIM:613194	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:613194	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613194	ROM1	6094	HP:0000512	Abnormal electroretinogram
OMIM:613194	C2ORF71	388939	HP:0000541	Retinal detachment
OMIM:613194	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:613194	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613194	C2ORF71	388939	HP:0012045	Retinal flecks
OMIM:613194	C2ORF71	388939	HP:0007663	Reduced visual acuity
OMIM:613194	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:613194	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613194	C2ORF71	388939	HP:0000512	Abnormal electroretinogram
OMIM:613194	RP9	6100	HP:0000541	Retinal detachment
OMIM:613194	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:613194	RP9	6100	HP:0000662	Nyctalopia
OMIM:613194	RP9	6100	HP:0012045	Retinal flecks
OMIM:613194	RP9	6100	HP:0007663	Reduced visual acuity
OMIM:613194	RP9	6100	HP:0000543	Optic disc pallor
OMIM:613194	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613194	RP9	6100	HP:0000512	Abnormal electroretinogram
OMIM:613194	PRPF6	24148	HP:0000541	Retinal detachment
OMIM:613194	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:613194	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613194	PRPF6	24148	HP:0012045	Retinal flecks
OMIM:613194	PRPF6	24148	HP:0007663	Reduced visual acuity
OMIM:613194	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:613194	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613194	PRPF6	24148	HP:0000512	Abnormal electroretinogram
OMIM:613194	RP1	6101	HP:0000541	Retinal detachment
OMIM:613194	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:613194	RP1	6101	HP:0000662	Nyctalopia
OMIM:613194	RP1	6101	HP:0012045	Retinal flecks
OMIM:613194	RP1	6101	HP:0007663	Reduced visual acuity
OMIM:613194	RP1	6101	HP:0000543	Optic disc pallor
OMIM:613194	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613194	RP1	6101	HP:0000512	Abnormal electroretinogram
OMIM:613194	RP2	6102	HP:0000541	Retinal detachment
OMIM:613194	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:613194	RP2	6102	HP:0000662	Nyctalopia
OMIM:613194	RP2	6102	HP:0012045	Retinal flecks
OMIM:613194	RP2	6102	HP:0007663	Reduced visual acuity
OMIM:613194	RP2	6102	HP:0000543	Optic disc pallor
OMIM:613194	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613194	RP2	6102	HP:0000512	Abnormal electroretinogram
OMIM:613194	RPGR	6103	HP:0000541	Retinal detachment
OMIM:613194	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:613194	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613194	RPGR	6103	HP:0012045	Retinal flecks
OMIM:613194	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:613194	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:613194	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613194	RPGR	6103	HP:0000512	Abnormal electroretinogram
OMIM:613194	SEMA4A	64218	HP:0000541	Retinal detachment
OMIM:613194	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:613194	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613194	SEMA4A	64218	HP:0012045	Retinal flecks
OMIM:613194	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:613194	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:613194	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613194	SEMA4A	64218	HP:0000512	Abnormal electroretinogram
OMIM:613194	C8ORF37	157657	HP:0000541	Retinal detachment
OMIM:613194	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:613194	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613194	C8ORF37	157657	HP:0012045	Retinal flecks
OMIM:613194	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:613194	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:613194	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613194	C8ORF37	157657	HP:0000512	Abnormal electroretinogram
OMIM:613194	IDH3B	3420	HP:0000541	Retinal detachment
OMIM:613194	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:613194	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613194	IDH3B	3420	HP:0012045	Retinal flecks
OMIM:613194	IDH3B	3420	HP:0007663	Reduced visual acuity
OMIM:613194	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:613194	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613194	IDH3B	3420	HP:0000512	Abnormal electroretinogram
OMIM:613194	MERTK	10461	HP:0000541	Retinal detachment
OMIM:613194	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:613194	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613194	MERTK	10461	HP:0012045	Retinal flecks
OMIM:613194	MERTK	10461	HP:0007663	Reduced visual acuity
OMIM:613194	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:613194	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613194	MERTK	10461	HP:0000512	Abnormal electroretinogram
OMIM:613194	PRPF8	10594	HP:0000541	Retinal detachment
OMIM:613194	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:613194	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613194	PRPF8	10594	HP:0012045	Retinal flecks
OMIM:613194	PRPF8	10594	HP:0007663	Reduced visual acuity
OMIM:613194	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:613194	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613194	PRPF8	10594	HP:0000512	Abnormal electroretinogram
OMIM:613194	TOPORS	10210	HP:0000541	Retinal detachment
OMIM:613194	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:613194	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613194	TOPORS	10210	HP:0012045	Retinal flecks
OMIM:613194	TOPORS	10210	HP:0007663	Reduced visual acuity
OMIM:613194	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:613194	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613194	TOPORS	10210	HP:0000512	Abnormal electroretinogram
OMIM:613194	USH2A	7399	HP:0000541	Retinal detachment
OMIM:613194	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:613194	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613194	USH2A	7399	HP:0012045	Retinal flecks
OMIM:613194	USH2A	7399	HP:0007663	Reduced visual acuity
OMIM:613194	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:613194	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613194	USH2A	7399	HP:0000512	Abnormal electroretinogram
OMIM:613194	RPE65	6121	HP:0000541	Retinal detachment
OMIM:613194	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:613194	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613194	RPE65	6121	HP:0012045	Retinal flecks
OMIM:613194	RPE65	6121	HP:0007663	Reduced visual acuity
OMIM:613194	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:613194	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613194	RPE65	6121	HP:0000512	Abnormal electroretinogram
OMIM:613194	CLRN1	7401	HP:0000541	Retinal detachment
OMIM:613194	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:613194	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613194	CLRN1	7401	HP:0012045	Retinal flecks
OMIM:613194	CLRN1	7401	HP:0007663	Reduced visual acuity
OMIM:613194	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:613194	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613194	CLRN1	7401	HP:0000512	Abnormal electroretinogram
OMIM:613194	CNGB1	1258	HP:0000541	Retinal detachment
OMIM:613194	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:613194	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613194	CNGB1	1258	HP:0012045	Retinal flecks
OMIM:613194	CNGB1	1258	HP:0007663	Reduced visual acuity
OMIM:613194	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:613194	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613194	CNGB1	1258	HP:0000512	Abnormal electroretinogram
OMIM:613194	RGR	5995	HP:0000541	Retinal detachment
OMIM:613194	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:613194	RGR	5995	HP:0000662	Nyctalopia
OMIM:613194	RGR	5995	HP:0012045	Retinal flecks
OMIM:613194	RGR	5995	HP:0007663	Reduced visual acuity
OMIM:613194	RGR	5995	HP:0000543	Optic disc pallor
OMIM:613194	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613194	RGR	5995	HP:0000512	Abnormal electroretinogram
OMIM:613194	CNGA1	1259	HP:0000541	Retinal detachment
OMIM:613194	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:613194	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613194	CNGA1	1259	HP:0012045	Retinal flecks
OMIM:613194	CNGA1	1259	HP:0007663	Reduced visual acuity
OMIM:613194	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:613194	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613194	CNGA1	1259	HP:0000512	Abnormal electroretinogram
OMIM:613194	TUB	7275	HP:0000541	Retinal detachment
OMIM:613194	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:613194	TUB	7275	HP:0000662	Nyctalopia
OMIM:613194	TUB	7275	HP:0012045	Retinal flecks
OMIM:613194	TUB	7275	HP:0007663	Reduced visual acuity
OMIM:613194	TUB	7275	HP:0000543	Optic disc pallor
OMIM:613194	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613194	TUB	7275	HP:0000512	Abnormal electroretinogram
OMIM:613194	SNRNP200	23020	HP:0000541	Retinal detachment
OMIM:613194	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:613194	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613194	SNRNP200	23020	HP:0012045	Retinal flecks
OMIM:613194	SNRNP200	23020	HP:0007663	Reduced visual acuity
OMIM:613194	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:613194	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613194	SNRNP200	23020	HP:0000512	Abnormal electroretinogram
OMIM:613194	SLC7A14	57709	HP:0000541	Retinal detachment
OMIM:613194	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:613194	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613194	SLC7A14	57709	HP:0012045	Retinal flecks
OMIM:613194	SLC7A14	57709	HP:0007663	Reduced visual acuity
OMIM:613194	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:613194	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613194	SLC7A14	57709	HP:0000512	Abnormal electroretinogram
OMIM:613194	TULP1	7287	HP:0000541	Retinal detachment
OMIM:613194	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:613194	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613194	TULP1	7287	HP:0012045	Retinal flecks
OMIM:613194	TULP1	7287	HP:0007663	Reduced visual acuity
OMIM:613194	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:613194	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613194	TULP1	7287	HP:0000512	Abnormal electroretinogram
OMIM:613194	RHO	6010	HP:0000541	Retinal detachment
OMIM:613194	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:613194	RHO	6010	HP:0000662	Nyctalopia
OMIM:613194	RHO	6010	HP:0012045	Retinal flecks
OMIM:613194	RHO	6010	HP:0007663	Reduced visual acuity
OMIM:613194	RHO	6010	HP:0000543	Optic disc pallor
OMIM:613194	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613194	RHO	6010	HP:0000512	Abnormal electroretinogram
OMIM:613194	CA4	762	HP:0000541	Retinal detachment
OMIM:613194	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:613194	CA4	762	HP:0000662	Nyctalopia
OMIM:613194	CA4	762	HP:0012045	Retinal flecks
OMIM:613194	CA4	762	HP:0007663	Reduced visual acuity
OMIM:613194	CA4	762	HP:0000543	Optic disc pallor
OMIM:613194	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613194	CA4	762	HP:0000512	Abnormal electroretinogram
OMIM:613194	CRB1	23418	HP:0000541	Retinal detachment
OMIM:613194	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:613194	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613194	CRB1	23418	HP:0012045	Retinal flecks
OMIM:613194	CRB1	23418	HP:0007663	Reduced visual acuity
OMIM:613194	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:613194	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613194	CRB1	23418	HP:0000512	Abnormal electroretinogram
OMIM:613194	IMPG2	50939	HP:0000541	Retinal detachment
OMIM:613194	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:613194	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613194	IMPG2	50939	HP:0012045	Retinal flecks
OMIM:613194	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:613194	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:613194	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613194	IMPG2	50939	HP:0000512	Abnormal electroretinogram
OMIM:613194	ZNF513	130557	HP:0000541	Retinal detachment
OMIM:613194	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:613194	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613194	ZNF513	130557	HP:0012045	Retinal flecks
OMIM:613194	ZNF513	130557	HP:0007663	Reduced visual acuity
OMIM:613194	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:613194	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613194	ZNF513	130557	HP:0000512	Abnormal electroretinogram
OMIM:613194	CRX	1406	HP:0000541	Retinal detachment
OMIM:613194	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:613194	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:613194	CRX	1406	HP:0000662	Nyctalopia
OMIM:613194	CRX	1406	HP:0012045	Retinal flecks
OMIM:613194	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:613194	CRX	1406	HP:0000543	Optic disc pallor
OMIM:613194	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613194	CRX	1406	HP:0000512	Abnormal electroretinogram
OMIM:615397	B9D1	27077	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	B9D1	27077	HP:0001562	Oligohydramnios
OMIM:615397	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:615397	B9D1	27077	HP:0010442	Polydactyly
OMIM:615397	B9D1	27077	HP:0002085	Occipital encephalocele
OMIM:615397	RPGRIP1	57096	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	RPGRIP1	57096	HP:0001562	Oligohydramnios
OMIM:615397	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:615397	RPGRIP1	57096	HP:0010442	Polydactyly
OMIM:615397	RPGRIP1	57096	HP:0002085	Occipital encephalocele
OMIM:615397	CC2D2A	57545	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	CC2D2A	57545	HP:0001562	Oligohydramnios
OMIM:615397	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:615397	CC2D2A	57545	HP:0010442	Polydactyly
OMIM:615397	CC2D2A	57545	HP:0002085	Occipital encephalocele
OMIM:615397	B9D2	80776	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	B9D2	80776	HP:0001562	Oligohydramnios
OMIM:615397	B9D2	80776	HP:0000007	Autosomal recessive inheritance
OMIM:615397	B9D2	80776	HP:0010442	Polydactyly
OMIM:615397	B9D2	80776	HP:0002085	Occipital encephalocele
OMIM:615397	CSPP1	79848	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	CSPP1	79848	HP:0001562	Oligohydramnios
OMIM:615397	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:615397	CSPP1	79848	HP:0010442	Polydactyly
OMIM:615397	CSPP1	79848	HP:0002085	Occipital encephalocele
OMIM:615397	TMEM67	91147	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	TMEM67	91147	HP:0001562	Oligohydramnios
OMIM:615397	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:615397	TMEM67	91147	HP:0010442	Polydactyly
OMIM:615397	TMEM67	91147	HP:0002085	Occipital encephalocele
OMIM:615397	WDPCP	51057	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	WDPCP	51057	HP:0001562	Oligohydramnios
OMIM:615397	WDPCP	51057	HP:0000007	Autosomal recessive inheritance
OMIM:615397	WDPCP	51057	HP:0010442	Polydactyly
OMIM:615397	WDPCP	51057	HP:0002085	Occipital encephalocele
OMIM:615397	MKS1	54903	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	MKS1	54903	HP:0001562	Oligohydramnios
OMIM:615397	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:615397	MKS1	54903	HP:0010442	Polydactyly
OMIM:615397	MKS1	54903	HP:0002085	Occipital encephalocele
OMIM:615397	CEP290	80184	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	CEP290	80184	HP:0001562	Oligohydramnios
OMIM:615397	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:615397	CEP290	80184	HP:0010442	Polydactyly
OMIM:615397	CEP290	80184	HP:0002085	Occipital encephalocele
OMIM:615397	RPGRIP1L	23322	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	RPGRIP1L	23322	HP:0001562	Oligohydramnios
OMIM:615397	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:615397	RPGRIP1L	23322	HP:0010442	Polydactyly
OMIM:615397	RPGRIP1L	23322	HP:0002085	Occipital encephalocele
OMIM:615397	TCTN2	79867	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	TCTN2	79867	HP:0001562	Oligohydramnios
OMIM:615397	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:615397	TCTN2	79867	HP:0010442	Polydactyly
OMIM:615397	TCTN2	79867	HP:0002085	Occipital encephalocele
OMIM:615397	TMEM216	51259	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	TMEM216	51259	HP:0001562	Oligohydramnios
OMIM:615397	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:615397	TMEM216	51259	HP:0010442	Polydactyly
OMIM:615397	TMEM216	51259	HP:0002085	Occipital encephalocele
OMIM:615397	TMEM231	79583	HP:0000113	Polycystic kidney dysplasia
OMIM:615397	TMEM231	79583	HP:0001562	Oligohydramnios
OMIM:615397	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:615397	TMEM231	79583	HP:0010442	Polydactyly
OMIM:615397	TMEM231	79583	HP:0002085	Occipital encephalocele
OMIM:611407	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:611407	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:611407	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:611407	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:611407	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:611407	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:611407	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:611407	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:611407	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:611407	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:611407	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:611407	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:611407	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:611407	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:611407	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:611407	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:611407	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:611407	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:611407	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:611407	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:611407	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:611407	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:611407	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:611407	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:611407	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:611407	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:611407	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:611407	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:611407	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:611407	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:611407	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:611407	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:611407	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:611407	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:611407	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:611407	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:611407	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:611407	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:611407	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:611407	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:611407	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:611407	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:611407	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:611407	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:611407	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:611407	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:611407	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:611407	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:611407	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:611407	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:611407	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:611407	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:611407	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:611407	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:611407	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:611407	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:611407	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:611407	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:611407	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:611407	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:611407	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:611407	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:611407	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:611407	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:611407	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:611407	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:611407	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:611407	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:611407	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:611407	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:611407	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:611407	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:611407	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:611407	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:611407	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:611407	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:611407	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:611407	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:611498	GLIS2	84662	HP:0000090	Nephronophthisis
OMIM:611498	GLIS2	84662	HP:0003774	Stage 5 chronic kidney disease
OMIM:611498	GLIS2	84662	HP:0000007	Autosomal recessive inheritance
OMIM:603471	SLC25A13	10165	HP:0001987	Hyperammonemia
OMIM:603471	SLC25A13	10165	HP:0000007	Autosomal recessive inheritance
OMIM:603471	SLC25A13	10165	HP:0001397	Hepatic steatosis
OMIM:603471	SLC25A13	10165	HP:0002155	Hypertriglyceridemia
OMIM:603471	SLC25A13	10165	HP:0001733	Pancreatitis
OMIM:603471	SLC25A13	10165	HP:0002910	Elevated hepatic transaminases
OMIM:603471	SLC25A13	10165	HP:0001259	Coma
OMIM:603471	SLC25A13	10165	HP:0002181	Cerebral edema
OMIM:271900	ASPA	443	HP:0000639	Nystagmus
OMIM:271900	ASPA	443	HP:0000618	Blindness
OMIM:271900	ASPA	443	HP:0000649	Abnormality of visual evoked potentials
OMIM:271900	ASPA	443	HP:0000365	Hearing impairment
OMIM:271900	ASPA	443	HP:0004372	Reduced consciousness/confusion
OMIM:271900	ASPA	443	HP:0002977	Aplasia/Hypoplasia involving the central nervous system
OMIM:271900	ASPA	443	HP:0012444	Brain atrophy
OMIM:271900	ASPA	443	HP:0008872	Feeding difficulties in infancy
OMIM:271900	ASPA	443	HP:0000256	Macrocephaly
OMIM:271900	ASPA	443	HP:0002353	EEG abnormality
OMIM:271900	ASPA	443	HP:0001252	Muscular hypotonia
OMIM:271900	ASPA	443	HP:0007703	Abnormality of retinal pigmentation
OMIM:271900	ASPA	443	HP:0007305	CNS demyelination
OMIM:271900	ASPA	443	HP:0002376	Developmental regression
OMIM:271900	ASPA	443	HP:0000648	Optic atrophy
OMIM:271900	ASPA	443	HP:0100543	Cognitive impairment
OMIM:271900	ASPA	443	HP:0000007	Autosomal recessive inheritance
OMIM:271900	ASPA	443	HP:0002197	Generalized seizures
OMIM:271900	ASPA	443	HP:0001276	Hypertonia
OMIM:271900	ASPA	443	HP:0000505	Visual impairment
OMIM:271900	ASPA	443	HP:0001250	Seizures
OMIM:271900	ASPA	443	HP:0002179	Opisthotonus
OMIM:271900	ASPA	443	HP:0001371	Flexion contracture
OMIM:608264	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:608264	MSRB3	253827	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:608264	BSND	7809	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:608264	ESPN	83715	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:608264	DFNB31	25861	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:608264	OTOA	146183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:608264	GJA1	2697	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:608264	MET	4233	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:608264	CLDN14	23562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:608264	HGF	3082	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:608264	PNPT1	87178	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:608264	EPS8	2059	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:608264	MYO3A	53904	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:608264	DCDC2	51473	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:608264	GJB2	2706	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:608264	GJB3	2707	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:608264	CABP2	51475	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:608264	GRXCR2	643226	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:608264	SERPINB6	5269	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:608264	COL11A2	1302	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:608264	CIB2	10518	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:608264	FAM65B	9750	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:608264	KARS	3735	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:608264	LOXHD1	125336	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:608264	TMC1	117531	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:608264	CLIC5	53405	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:608264	OTOF	9381	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:608264	MYO6	4646	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:608264	TMIE	259236	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:608264	MYO7A	4647	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:608264	LRTOMT	220074	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:608264	OTOGL	283310	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:608264	TPRN	286262	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:608264	SLC26A4	5172	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:608264	GJB6	10804	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:608264	DFNB59	494513	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:608264	ESRRB	2103	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:608264	TMPRSS3	64699	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:608264	PTPRQ	374462	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:608264	SLC26A5	375611	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:608264	PCDH15	65217	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:608264	TSPEAR	54084	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:608264	LHFPL5	222662	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:608264	TRIOBP	11078	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:608264	CDH23	64072	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:608264	RDX	5962	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:608264	GPSM2	29899	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:608264	ELMOD3	84173	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:608264	ILDR1	286676	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:608264	GRXCR1	389207	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:608264	MARVELD2	153562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:608264	STRC	161497	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:608264	SLITRK6	84189	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:608264	TECTA	7007	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:608264	MYO15A	51168	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:608264	USH1C	10083	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:608264	ADCY1	107	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:608264	SYNE4	163183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:608264	GIPC3	126326	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:608264	TBC1D24	57465	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608264	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:608264	OTOG	340990	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:614893	IRF8	3394	HP:0002716	Lymphadenopathy
OMIM:614893	IRF8	3394	HP:0010978	Abnormality of immune system physiology
OMIM:614893	IRF8	3394	HP:0004370	Abnormality of temperature regulation
OMIM:225250	SLC26A4	5172	HP:0000006	Autosomal dominant inheritance
OMIM:225250	SLC26A4	5172	HP:0010864	Intellectual disability, severe
OMIM:225250	SLC26A4	5172	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225250	SLC26A4	5172	HP:0006887	Intellectual disability, progressive
OMIM:225250	SLC26A4	5172	HP:0001510	Growth delay
OMIM:225250	TSHR	7253	HP:0000006	Autosomal dominant inheritance
OMIM:225250	TSHR	7253	HP:0010864	Intellectual disability, severe
OMIM:225250	TSHR	7253	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225250	TSHR	7253	HP:0006887	Intellectual disability, progressive
OMIM:225250	TSHR	7253	HP:0001510	Growth delay
OMIM:225250	PAX8	7849	HP:0000006	Autosomal dominant inheritance
OMIM:225250	PAX8	7849	HP:0010864	Intellectual disability, severe
OMIM:225250	PAX8	7849	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225250	PAX8	7849	HP:0006887	Intellectual disability, progressive
OMIM:225250	PAX8	7849	HP:0001510	Growth delay
OMIM:225250	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:225250	NKX2-5	1482	HP:0010864	Intellectual disability, severe
OMIM:225250	NKX2-5	1482	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225250	NKX2-5	1482	HP:0006887	Intellectual disability, progressive
OMIM:225250	NKX2-5	1482	HP:0001510	Growth delay
OMIM:180750	TWIST1	7291	HP:0010055	Broad hallux
OMIM:180750	TWIST1	7291	HP:0001357	Plagiocephaly
OMIM:180750	TWIST1	7291	HP:0000272	Malar flattening
OMIM:180750	TWIST1	7291	HP:0010066	Duplication of phalanx of hallux
OMIM:180750	TWIST1	7291	HP:0000006	Autosomal dominant inheritance
OMIM:180750	TWIST1	7291	HP:0000316	Hypertelorism
OMIM:180750	TWIST1	7291	HP:0000486	Strabismus
OMIM:180750	TWIST1	7291	HP:0003189	Long nose
OMIM:615396	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:615396	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:615396	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:615396	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:615396	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:615396	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:615396	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:615396	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:615396	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:615396	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:615396	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:615396	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:615396	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:615396	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:615396	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:615396	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:615396	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:615396	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:615396	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:615396	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:615396	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:615396	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:615396	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:615396	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:615396	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:615396	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:615396	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:615396	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:615396	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:615396	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:615396	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:615396	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:615396	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:615396	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:615396	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:615396	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:615396	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:615396	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:615396	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:615396	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:615396	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:615396	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:615396	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:615396	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:615396	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:615396	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:615396	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:615396	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:615396	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:615396	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:615396	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:615396	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:615396	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:615396	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:615396	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:615396	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:615396	MYH7B	57644	HP:0001644	Dilated cardiomyopathy
OMIM:615396	MYH7B	57644	HP:0000006	Autosomal dominant inheritance
OMIM:615396	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:615396	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:615396	DTNA	1837	HP:0001644	Dilated cardiomyopathy
OMIM:615396	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:615396	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:615396	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:615396	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:615396	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:615396	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:615396	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:615396	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:615396	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:615396	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:615396	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:615396	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:615396	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:615396	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:615396	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:615396	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:615396	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:615396	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:615396	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:615396	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:615396	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:615396	MIB1	57534	HP:0001644	Dilated cardiomyopathy
OMIM:615396	MIB1	57534	HP:0000006	Autosomal dominant inheritance
OMIM:615396	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:615396	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:608104	ALG8	79053	HP:0001004	Lymphedema
OMIM:608104	ALG8	79053	HP:0000518	Cataract
OMIM:608104	ALG8	79053	HP:0000091	Abnormality of the renal tubule
OMIM:608104	ALG8	79053	HP:0001399	Hepatic failure
OMIM:146510	GLI3	2737	HP:0000826	Precocious puberty
OMIM:146510	GLI3	2737	HP:0100543	Cognitive impairment
OMIM:146510	GLI3	2737	HP:0001770	Toe syndactyly
OMIM:146510	GLI3	2737	HP:0002251	Aganglionic megacolon
OMIM:146510	GLI3	2737	HP:0001643	Patent ductus arteriosus
OMIM:146510	GLI3	2737	HP:0000824	Growth hormone deficiency
OMIM:146510	GLI3	2737	HP:0001250	Seizures
OMIM:146510	GLI3	2737	HP:0001629	Ventricular septal defect
OMIM:146510	GLI3	2737	HP:0000003	Multicystic kidney dysplasia
OMIM:146510	GLI3	2737	HP:0000089	Renal hypoplasia
OMIM:146510	GLI3	2737	HP:0000413	Atresia of the external auditory canal
OMIM:146510	GLI3	2737	HP:0002827	Hip dislocation
OMIM:146510	GLI3	2737	HP:0001654	Abnormality of the heart valves
OMIM:146510	GLI3	2737	HP:0001162	Postaxial hand polydactyly
OMIM:146510	GLI3	2737	HP:0008207	Primary adrenal insufficiency
OMIM:146510	GLI3	2737	HP:0000368	Low-set, posteriorly rotated ears
OMIM:146510	GLI3	2737	HP:0002023	Anal atresia
OMIM:146510	GLI3	2737	HP:0003048	Radial head subluxation
OMIM:146510	GLI3	2737	HP:0008388	Abnormality of the toenails
OMIM:146510	GLI3	2737	HP:0000463	Anteverted nares
OMIM:146510	GLI3	2737	HP:0000006	Autosomal dominant inheritance
OMIM:146510	GLI3	2737	HP:0001511	Intrauterine growth retardation
OMIM:146510	GLI3	2737	HP:0008678	Renal hypoplasia/aplasia
OMIM:146510	GLI3	2737	HP:0002983	Micromelia
OMIM:146510	GLI3	2737	HP:0000568	Microphthalmia
OMIM:146510	GLI3	2737	HP:0003196	Short nose
OMIM:146510	GLI3	2737	HP:0008551	Microtia
OMIM:146510	GLI3	2737	HP:0100589	Urogenital fistula
OMIM:146510	GLI3	2737	HP:0000107	Renal cyst
OMIM:146510	GLI3	2737	HP:0002937	Hemivertebrae
OMIM:146510	GLI3	2737	HP:0004322	Short stature
OMIM:146510	GLI3	2737	HP:0000204	Cleft upper lip
OMIM:146510	GLI3	2737	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:146510	GLI3	2737	HP:0001360	Holoprosencephaly
OMIM:146510	GLI3	2737	HP:0000171	Microglossia
OMIM:146510	GLI3	2737	HP:0000708	Behavioral abnormality
OMIM:146510	GLI3	2737	HP:0000830	Anterior hypopituitarism
OMIM:146510	GLI3	2737	HP:0002164	Nail dysplasia
OMIM:146510	GLI3	2737	HP:0000054	Micropenis
OMIM:146510	GLI3	2737	HP:0002101	Abnormal lung lobation
OMIM:146510	GLI3	2737	HP:0000835	Adrenal hypoplasia
OMIM:146510	GLI3	2737	HP:0005280	Depressed nasal bridge
OMIM:146510	GLI3	2737	HP:0000028	Cryptorchidism
OMIM:146510	GLI3	2737	HP:0001231	Abnormality of the fingernails
OMIM:146510	GLI3	2737	HP:0002575	Tracheoesophageal fistula
OMIM:146510	GLI3	2737	HP:0000110	Renal dysplasia
OMIM:146510	GLI3	2737	HP:0000086	Ectopic kidney
OMIM:146510	GLI3	2737	HP:0008734	Decreased testicular size
OMIM:146510	GLI3	2737	HP:0000175	Cleft palate
OMIM:146510	GLI3	2737	HP:0001156	Brachydactyly syndrome
OMIM:146510	GLI3	2737	HP:0000347	Micrognathia
OMIM:146510	GLI3	2737	HP:0000695	Natal tooth
OMIM:146510	GLI3	2737	HP:0006101	Finger syndactyly
OMIM:613854	GDF1	2657	HP:0000006	Autosomal dominant inheritance
OMIM:613854	GDF1	2657	HP:0001669	Transposition of the great arteries
OMIM:613854	CFC1	55997	HP:0000006	Autosomal dominant inheritance
OMIM:613854	CFC1	55997	HP:0001669	Transposition of the great arteries
OMIM:613854	MED13L	23389	HP:0000006	Autosomal dominant inheritance
OMIM:613854	MED13L	23389	HP:0001669	Transposition of the great arteries
OMIM:607731	GDAP1	54332	HP:0002936	Distal sensory impairment
OMIM:607731	GDAP1	54332	HP:0003376	Steppage gait
OMIM:607731	GDAP1	54332	HP:0002460	Distal muscle weakness
OMIM:607731	GDAP1	54332	HP:0003693	Distal amyotrophy
OMIM:607731	GDAP1	54332	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:607731	GDAP1	54332	HP:0003621	Juvenile onset
OMIM:607731	GDAP1	54332	HP:0001761	Pes cavus
OMIM:607731	GDAP1	54332	HP:0009027	Foot dorsiflexor weakness
OMIM:607731	GDAP1	54332	HP:0000007	Autosomal recessive inheritance
OMIM:151210	COL2A1	1280	HP:0001163	Abnormality of the metacarpal bones
OMIM:151210	COL2A1	1280	HP:0001538	Protuberant abdomen
OMIM:151210	COL2A1	1280	HP:0003175	Hypoplastic ischia
OMIM:151210	COL2A1	1280	HP:0000256	Macrocephaly
OMIM:151210	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:151210	COL2A1	1280	HP:0001831	Short toe
OMIM:151210	COL2A1	1280	HP:0001156	Brachydactyly syndrome
OMIM:151210	COL2A1	1280	HP:0010306	Short thorax
OMIM:151210	COL2A1	1280	HP:0000944	Abnormality of the metaphyses
OMIM:151210	COL2A1	1280	HP:0000470	Short neck
OMIM:151210	COL2A1	1280	HP:0003021	Metaphyseal cupping
OMIM:151210	COL2A1	1280	HP:0000368	Low-set, posteriorly rotated ears
OMIM:151210	COL2A1	1280	HP:0004565	Severe platyspondyly
OMIM:151210	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:151210	COL2A1	1280	HP:0005280	Depressed nasal bridge
OMIM:151210	COL2A1	1280	HP:0000774	Narrow chest
OMIM:151210	COL2A1	1280	HP:0000280	Coarse facial features
OMIM:151210	COL2A1	1280	HP:0003173	Hypoplastic pubic bone
OMIM:151210	COL2A1	1280	HP:0002983	Micromelia
OMIM:151210	COL2A1	1280	HP:0004322	Short stature
OMIM:151210	COL2A1	1280	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:151210	COL2A1	1280	HP:0001561	Polyhydramnios
OMIM:151210	COL2A1	1280	HP:0005930	Abnormality of epiphysis morphology
OMIM:151210	COL2A1	1280	HP:0003026	Short long bone
OMIM:151210	COL2A1	1280	HP:0000946	Hypoplastic ilia
OMIM:151210	COL2A1	1280	HP:0000272	Malar flattening
OMIM:151210	COL2A1	1280	HP:0000773	Short ribs
OMIM:151210	COL2A1	1280	HP:0000175	Cleft palate
OMIM:151210	COL2A1	1280	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:151210	COL2A1	1280	HP:0002970	Genu varum
OMIM:151210	COL2A1	1280	HP:0000912	Sprengel anomaly
OMIM:151210	COL2A1	1280	HP:0001789	Hydrops fetalis
OMIM:151210	COL2A1	1280	HP:0004298	Abnormality of the abdominal wall
OMIM:151210	COL2A1	1280	HP:0009882	Short distal phalanx of finger
OMIM:607131	KIF7	374654	HP:0000316	Hypertelorism
OMIM:607131	KIF7	374654	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:607131	KIF7	374654	HP:0002120	Cerebral cortical atrophy
OMIM:607131	KIF7	374654	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:607131	KIF7	374654	HP:0000272	Malar flattening
OMIM:607131	KIF7	374654	HP:0000767	Pectus excavatum
OMIM:607131	KIF7	374654	HP:0000256	Macrocephaly
OMIM:607131	KIF7	374654	HP:0000023	Inguinal hernia
OMIM:607131	KIF7	374654	HP:0002007	Frontal bossing
OMIM:607131	KIF7	374654	HP:0000470	Short neck
OMIM:607131	KIF7	374654	HP:0001999	Abnormal facial shape
OMIM:607131	KIF7	374654	HP:0001513	Obesity
OMIM:607131	KIF7	374654	HP:0002758	Osteoarthritis
OMIM:607131	KIF7	374654	HP:0000768	Pectus carinatum
OMIM:607131	KIF7	374654	HP:0000368	Low-set, posteriorly rotated ears
OMIM:607131	KIF7	374654	HP:0005930	Abnormality of epiphysis morphology
OMIM:607131	KIF7	374654	HP:0004097	Deviation of finger
OMIM:607131	KIF7	374654	HP:0002857	Genu valgum
OMIM:607131	KIF7	374654	HP:0030084	Clinodactyly
OMIM:607131	KIF7	374654	HP:0001004	Lymphedema
OMIM:607131	KIF7	374654	HP:0001274	Agenesis of corpus callosum
OMIM:607131	KIF7	374654	HP:0006101	Finger syndactyly
OMIM:256370	WT1	7490	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:256370	WT1	7490	HP:0000083	Renal insufficiency
OMIM:256370	WT1	7490	HP:0000007	Autosomal recessive inheritance
OMIM:256370	WT1	7490	HP:0000097	Focal segmental glomerulosclerosis
OMIM:256370	WT1	7490	HP:0000100	Nephrotic syndrome
OMIM:256370	WT1	7490	HP:0011463	Childhood onset
OMIM:256370	WT1	7490	HP:0003676	Progressive
OMIM:231550	AAAS	8086	HP:0000649	Abnormality of visual evoked potentials
OMIM:231550	AAAS	8086	HP:0000007	Autosomal recessive inheritance
OMIM:231550	AAAS	8086	HP:0011463	Childhood onset
OMIM:231550	AAAS	8086	HP:0000953	Hyperpigmentation of the skin
OMIM:231550	AAAS	8086	HP:0001324	Muscle weakness
OMIM:231550	AAAS	8086	HP:0003487	Babinski sign
OMIM:231550	AAAS	8086	HP:0002571	Achalasia
OMIM:231550	AAAS	8086	HP:0001260	Dysarthria
OMIM:231550	AAAS	8086	HP:0003676	Progressive
OMIM:231550	AAAS	8086	HP:0000648	Optic atrophy
OMIM:231550	AAAS	8086	HP:0001249	Intellectual disability
OMIM:231550	AAAS	8086	HP:0000252	Microcephaly
OMIM:231550	AAAS	8086	HP:0004322	Short stature
OMIM:231550	AAAS	8086	HP:0001251	Ataxia
OMIM:231550	AAAS	8086	HP:0001347	Hyperreflexia
OMIM:231550	AAAS	8086	HP:0001263	Global developmental delay
OMIM:231550	GMPPA	29926	HP:0000649	Abnormality of visual evoked potentials
OMIM:231550	GMPPA	29926	HP:0000007	Autosomal recessive inheritance
OMIM:231550	GMPPA	29926	HP:0011463	Childhood onset
OMIM:231550	GMPPA	29926	HP:0000953	Hyperpigmentation of the skin
OMIM:231550	GMPPA	29926	HP:0001324	Muscle weakness
OMIM:231550	GMPPA	29926	HP:0003487	Babinski sign
OMIM:231550	GMPPA	29926	HP:0002571	Achalasia
OMIM:231550	GMPPA	29926	HP:0001260	Dysarthria
OMIM:231550	GMPPA	29926	HP:0003676	Progressive
OMIM:231550	GMPPA	29926	HP:0000648	Optic atrophy
OMIM:231550	GMPPA	29926	HP:0001249	Intellectual disability
OMIM:231550	GMPPA	29926	HP:0000252	Microcephaly
OMIM:231550	GMPPA	29926	HP:0004322	Short stature
OMIM:231550	GMPPA	29926	HP:0001251	Ataxia
OMIM:231550	GMPPA	29926	HP:0001347	Hyperreflexia
OMIM:231550	GMPPA	29926	HP:0001263	Global developmental delay
OMIM:260800	DCXR	51181	HP:0003110	Abnormality of urine homeostasis
OMIM:260800	DCXR	51181	HP:0000007	Autosomal recessive inheritance
OMIM:300046	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300046	ZNF711	7552	HP:0001419	X-linked recessive inheritance
OMIM:300046	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300046	IL1RAPL1	11141	HP:0001419	X-linked recessive inheritance
OMIM:300046	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300046	ACSL4	2182	HP:0001419	X-linked recessive inheritance
OMIM:300046	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300046	PAK3	5063	HP:0001419	X-linked recessive inheritance
OMIM:300046	SYP	6855	HP:0001249	Intellectual disability
OMIM:300046	SYP	6855	HP:0001419	X-linked recessive inheritance
OMIM:300046	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300046	FTSJ1	24140	HP:0001419	X-linked recessive inheritance
OMIM:300046	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300046	DLG3	1741	HP:0001419	X-linked recessive inheritance
OMIM:300046	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300046	PTCHD1	139411	HP:0001419	X-linked recessive inheritance
OMIM:300046	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300046	UPF3B	65109	HP:0001419	X-linked recessive inheritance
OMIM:300046	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300046	ZNF81	347344	HP:0001419	X-linked recessive inheritance
OMIM:300046	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300046	RAB39B	116442	HP:0001419	X-linked recessive inheritance
OMIM:300046	DMD	1756	HP:0001249	Intellectual disability
OMIM:300046	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:300046	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300046	MAGT1	84061	HP:0001419	X-linked recessive inheritance
OMIM:300046	MID2	11043	HP:0001249	Intellectual disability
OMIM:300046	MID2	11043	HP:0001419	X-linked recessive inheritance
OMIM:300046	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300046	GDI1	2664	HP:0001419	X-linked recessive inheritance
OMIM:300046	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300046	ZNF41	7592	HP:0001419	X-linked recessive inheritance
OMIM:300046	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300046	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300046	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300046	HCFC1	3054	HP:0001419	X-linked recessive inheritance
OMIM:300046	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300046	USP9X	8239	HP:0001419	X-linked recessive inheritance
OMIM:300046	MED12	9968	HP:0001249	Intellectual disability
OMIM:300046	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:300046	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300046	ZNF674	641339	HP:0001419	X-linked recessive inheritance
OMIM:300046	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300046	ARHGEF6	9459	HP:0001419	X-linked recessive inheritance
OMIM:300046	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300046	RPS6KA3	6197	HP:0001419	X-linked recessive inheritance
OMIM:300046	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300046	IQSEC2	23096	HP:0001419	X-linked recessive inheritance
OMIM:300046	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300046	AGTR2	186	HP:0001419	X-linked recessive inheritance
OMIM:300046	ARX	170302	HP:0001249	Intellectual disability
OMIM:300046	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:300046	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300046	ALG13	79868	HP:0001419	X-linked recessive inheritance
OMIM:300046	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300046	TSPAN7	7102	HP:0001419	X-linked recessive inheritance
ORPHANET:95713	SLC26A4	5172	HP:0000157	Abnormality of the tongue
ORPHANET:95713	SLC26A4	5172	HP:0000821	Hypothyroidism
ORPHANET:95713	SLC26A4	5172	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95713	SLC26A4	5172	HP:0001324	Muscle weakness
ORPHANET:95713	SLC26A4	5172	HP:0002360	Sleep disturbance
ORPHANET:95713	SLC26A4	5172	HP:0004322	Short stature
ORPHANET:95713	SLC26A4	5172	HP:0100543	Cognitive impairment
ORPHANET:95713	SLC26A4	5172	HP:0001252	Muscular hypotonia
ORPHANET:95713	SLC26A4	5172	HP:0002019	Constipation
ORPHANET:95713	SLC26A4	5172	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95713	SLC26A4	5172	HP:0000280	Coarse facial features
ORPHANET:95713	TSHR	7253	HP:0000157	Abnormality of the tongue
ORPHANET:95713	TSHR	7253	HP:0000821	Hypothyroidism
ORPHANET:95713	TSHR	7253	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95713	TSHR	7253	HP:0001324	Muscle weakness
ORPHANET:95713	TSHR	7253	HP:0002360	Sleep disturbance
ORPHANET:95713	TSHR	7253	HP:0004322	Short stature
ORPHANET:95713	TSHR	7253	HP:0100543	Cognitive impairment
ORPHANET:95713	TSHR	7253	HP:0001252	Muscular hypotonia
ORPHANET:95713	TSHR	7253	HP:0002019	Constipation
ORPHANET:95713	TSHR	7253	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95713	TSHR	7253	HP:0000280	Coarse facial features
ORPHANET:95713	PAX8	7849	HP:0000157	Abnormality of the tongue
ORPHANET:95713	PAX8	7849	HP:0000821	Hypothyroidism
ORPHANET:95713	PAX8	7849	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95713	PAX8	7849	HP:0001324	Muscle weakness
ORPHANET:95713	PAX8	7849	HP:0002360	Sleep disturbance
ORPHANET:95713	PAX8	7849	HP:0004322	Short stature
ORPHANET:95713	PAX8	7849	HP:0100543	Cognitive impairment
ORPHANET:95713	PAX8	7849	HP:0001252	Muscular hypotonia
ORPHANET:95713	PAX8	7849	HP:0002019	Constipation
ORPHANET:95713	PAX8	7849	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95713	PAX8	7849	HP:0000280	Coarse facial features
ORPHANET:95713	NKX2-5	1482	HP:0000157	Abnormality of the tongue
ORPHANET:95713	NKX2-5	1482	HP:0000821	Hypothyroidism
ORPHANET:95713	NKX2-5	1482	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95713	NKX2-5	1482	HP:0001324	Muscle weakness
ORPHANET:95713	NKX2-5	1482	HP:0002360	Sleep disturbance
ORPHANET:95713	NKX2-5	1482	HP:0004322	Short stature
ORPHANET:95713	NKX2-5	1482	HP:0100543	Cognitive impairment
ORPHANET:95713	NKX2-5	1482	HP:0001252	Muscular hypotonia
ORPHANET:95713	NKX2-5	1482	HP:0002019	Constipation
ORPHANET:95713	NKX2-5	1482	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95713	NKX2-5	1482	HP:0000280	Coarse facial features
OMIM:601868	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:601868	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:601868	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:601868	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:601868	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:601868	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:601868	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:601868	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:601868	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:601868	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:601868	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:601868	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601868	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:601868	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:601868	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:601868	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:601868	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:601868	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:601868	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:601868	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:601868	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:601868	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:601868	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:601868	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:601868	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:601868	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:601868	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:601868	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:601868	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:601868	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:601868	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:601868	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:601868	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:601868	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:601868	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:601868	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:601868	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:601868	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:601868	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:601868	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:601868	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:601868	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:601868	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:601868	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:601868	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:601868	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:601868	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:601868	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:601868	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:601868	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:601868	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:601868	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:601868	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:601868	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:601868	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:601868	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:601868	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:601868	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:601868	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:601868	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:601868	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:601868	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:601868	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:601868	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:601868	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:601868	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:601868	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:601868	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:601868	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:601868	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:275100	TSHB	7252	HP:0001537	Umbilical hernia
OMIM:275100	TSHB	7252	HP:0000157	Abnormality of the tongue
OMIM:275100	TSHB	7252	HP:0002019	Constipation
OMIM:275100	TSHB	7252	HP:0010864	Intellectual disability, severe
OMIM:275100	TSHB	7252	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:275100	TSHB	7252	HP:0002360	Sleep disturbance
OMIM:275100	TSHB	7252	HP:0000007	Autosomal recessive inheritance
OMIM:275100	TSHB	7252	HP:0005280	Depressed nasal bridge
OMIM:275100	TSHB	7252	HP:0006887	Intellectual disability, progressive
OMIM:275100	TSHB	7252	HP:0001252	Muscular hypotonia
OMIM:275100	TSHB	7252	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:275100	TSHB	7252	HP:0000158	Macroglossia
OMIM:275100	TSHB	7252	HP:0001539	Omphalocele
OMIM:275100	TSHB	7252	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:275100	TSHB	7252	HP:0000280	Coarse facial features
OMIM:275100	TSHB	7252	HP:0001392	Abnormality of the liver
OMIM:149730	FGFR3	2261	HP:0000668	Hypodontia
OMIM:149730	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:149730	FGFR3	2261	HP:0000104	Renal agenesis
OMIM:149730	FGFR3	2261	HP:0000348	High forehead
OMIM:149730	FGFR3	2261	HP:0000494	Downslanted palpebral fissures
OMIM:149730	FGFR3	2261	HP:0008678	Renal hypoplasia/aplasia
OMIM:149730	FGFR3	2261	HP:0000217	Xerostomia
OMIM:149730	FGFR3	2261	HP:0003974	Absent radius
OMIM:149730	FGFR3	2261	HP:0008572	External ear malformation
OMIM:149730	FGFR3	2261	HP:0000396	Overfolded helix
OMIM:149730	FGFR3	2261	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:149730	FGFR3	2261	HP:0000490	Deeply set eye
OMIM:149730	FGFR3	2261	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:149730	FGFR3	2261	HP:0000368	Low-set, posteriorly rotated ears
OMIM:149730	FGFR3	2261	HP:0000682	Abnormality of dental enamel
OMIM:149730	FGFR3	2261	HP:0001177	Preaxial hand polydactyly
OMIM:149730	FGFR3	2261	HP:0003022	Hypoplasia of the ulna
OMIM:149730	FGFR3	2261	HP:0000112	Nephropathy
OMIM:149730	FGFR3	2261	HP:0009738	Abnormality of the antihelix
OMIM:149730	FGFR3	2261	HP:0006101	Finger syndactyly
OMIM:149730	FGFR3	2261	HP:0000316	Hypertelorism
OMIM:149730	FGFR3	2261	HP:0000378	Cupped ear
OMIM:149730	FGFR3	2261	HP:0000670	Carious teeth
OMIM:149730	FGFR3	2261	HP:0005105	Abnormal nasal morphology
OMIM:149730	FGFR3	2261	HP:0004059	Radial club hand
OMIM:149730	FGFR3	2261	HP:0000337	Broad forehead
OMIM:149730	FGFR3	2261	HP:0000679	Taurodontia
OMIM:149730	FGFR3	2261	HP:0001245	Small thenar eminence
OMIM:149730	FGFR3	2261	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:149730	FGFR3	2261	HP:0000974	Hyperextensible skin
OMIM:149730	FGFR3	2261	HP:0002984	Hypoplasia of the radius
OMIM:149730	FGFR3	2261	HP:0004209	Clinodactyly of the 5th finger
OMIM:149730	FGFR3	2261	HP:0000202	Oral cleft
OMIM:149730	FGFR3	2261	HP:0000691	Microdontia
OMIM:149730	FGFR3	2261	HP:0100533	Inflammatory abnormality of the eye
OMIM:149730	FGFR3	2261	HP:0010055	Broad hallux
OMIM:149730	FGFR3	2261	HP:0002974	Radioulnar synostosis
OMIM:149730	FGFR3	2261	HP:0000772	Abnormality of the ribs
OMIM:149730	FGFR3	2261	HP:0000347	Micrognathia
OMIM:149730	FGFR3	2261	HP:0000383	Abnormality of periauricular region
OMIM:149730	FGFR3	2261	HP:0000629	Periorbital fullness
OMIM:149730	FGFR3	2261	HP:0000453	Choanal atresia
OMIM:149730	FGFR3	2261	HP:0006297	Hypoplasia of dental enamel
OMIM:149730	FGFR3	2261	HP:0000506	Telecanthus
OMIM:149730	FGFR3	2261	HP:0100258	Preaxial polydactyly
OMIM:149730	FGFR3	2261	HP:0100499	Tibial deviation of toes
OMIM:149730	FGFR3	2261	HP:0000405	Conductive hearing impairment
OMIM:149730	FGFR3	2261	HP:0001199	Triphalangeal thumb
OMIM:149730	FGFR3	2261	HP:0009804	Reduced number of teeth
OMIM:149730	FGFR3	2261	HP:0100627	Displacement of the external urethral meatus
OMIM:149730	FGFR3	2261	HP:0000508	Ptosis
OMIM:149730	FGFR3	2261	HP:0000407	Sensorineural hearing impairment
OMIM:149730	FGFR3	2261	HP:0000505	Visual impairment
OMIM:149730	FGFR3	2261	HP:0001841	Preaxial foot polydactyly
OMIM:149730	FGFR3	2261	HP:0000680	Delayed eruption of primary teeth
OMIM:149730	FGFR2	2263	HP:0000668	Hypodontia
OMIM:149730	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:149730	FGFR2	2263	HP:0000104	Renal agenesis
OMIM:149730	FGFR2	2263	HP:0000348	High forehead
OMIM:149730	FGFR2	2263	HP:0000494	Downslanted palpebral fissures
OMIM:149730	FGFR2	2263	HP:0008678	Renal hypoplasia/aplasia
OMIM:149730	FGFR2	2263	HP:0000217	Xerostomia
OMIM:149730	FGFR2	2263	HP:0003974	Absent radius
OMIM:149730	FGFR2	2263	HP:0008572	External ear malformation
OMIM:149730	FGFR2	2263	HP:0000396	Overfolded helix
OMIM:149730	FGFR2	2263	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:149730	FGFR2	2263	HP:0000490	Deeply set eye
OMIM:149730	FGFR2	2263	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:149730	FGFR2	2263	HP:0000368	Low-set, posteriorly rotated ears
OMIM:149730	FGFR2	2263	HP:0000682	Abnormality of dental enamel
OMIM:149730	FGFR2	2263	HP:0001177	Preaxial hand polydactyly
OMIM:149730	FGFR2	2263	HP:0003022	Hypoplasia of the ulna
OMIM:149730	FGFR2	2263	HP:0000112	Nephropathy
OMIM:149730	FGFR2	2263	HP:0009738	Abnormality of the antihelix
OMIM:149730	FGFR2	2263	HP:0006101	Finger syndactyly
OMIM:149730	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:149730	FGFR2	2263	HP:0000378	Cupped ear
OMIM:149730	FGFR2	2263	HP:0000670	Carious teeth
OMIM:149730	FGFR2	2263	HP:0005105	Abnormal nasal morphology
OMIM:149730	FGFR2	2263	HP:0004059	Radial club hand
OMIM:149730	FGFR2	2263	HP:0000337	Broad forehead
OMIM:149730	FGFR2	2263	HP:0000679	Taurodontia
OMIM:149730	FGFR2	2263	HP:0001245	Small thenar eminence
OMIM:149730	FGFR2	2263	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:149730	FGFR2	2263	HP:0000974	Hyperextensible skin
OMIM:149730	FGFR2	2263	HP:0002984	Hypoplasia of the radius
OMIM:149730	FGFR2	2263	HP:0004209	Clinodactyly of the 5th finger
OMIM:149730	FGFR2	2263	HP:0000202	Oral cleft
OMIM:149730	FGFR2	2263	HP:0000691	Microdontia
OMIM:149730	FGFR2	2263	HP:0100533	Inflammatory abnormality of the eye
OMIM:149730	FGFR2	2263	HP:0010055	Broad hallux
OMIM:149730	FGFR2	2263	HP:0002974	Radioulnar synostosis
OMIM:149730	FGFR2	2263	HP:0000772	Abnormality of the ribs
OMIM:149730	FGFR2	2263	HP:0000347	Micrognathia
OMIM:149730	FGFR2	2263	HP:0000383	Abnormality of periauricular region
OMIM:149730	FGFR2	2263	HP:0000629	Periorbital fullness
OMIM:149730	FGFR2	2263	HP:0000453	Choanal atresia
OMIM:149730	FGFR2	2263	HP:0006297	Hypoplasia of dental enamel
OMIM:149730	FGFR2	2263	HP:0000506	Telecanthus
OMIM:149730	FGFR2	2263	HP:0100258	Preaxial polydactyly
OMIM:149730	FGFR2	2263	HP:0100499	Tibial deviation of toes
OMIM:149730	FGFR2	2263	HP:0000405	Conductive hearing impairment
OMIM:149730	FGFR2	2263	HP:0001199	Triphalangeal thumb
OMIM:149730	FGFR2	2263	HP:0009804	Reduced number of teeth
OMIM:149730	FGFR2	2263	HP:0100627	Displacement of the external urethral meatus
OMIM:149730	FGFR2	2263	HP:0000508	Ptosis
OMIM:149730	FGFR2	2263	HP:0000407	Sensorineural hearing impairment
OMIM:149730	FGFR2	2263	HP:0000505	Visual impairment
OMIM:149730	FGFR2	2263	HP:0001841	Preaxial foot polydactyly
OMIM:149730	FGFR2	2263	HP:0000680	Delayed eruption of primary teeth
OMIM:149730	FGF10	2255	HP:0000668	Hypodontia
OMIM:149730	FGF10	2255	HP:0000006	Autosomal dominant inheritance
OMIM:149730	FGF10	2255	HP:0000104	Renal agenesis
OMIM:149730	FGF10	2255	HP:0000348	High forehead
OMIM:149730	FGF10	2255	HP:0000494	Downslanted palpebral fissures
OMIM:149730	FGF10	2255	HP:0008678	Renal hypoplasia/aplasia
OMIM:149730	FGF10	2255	HP:0000217	Xerostomia
OMIM:149730	FGF10	2255	HP:0003974	Absent radius
OMIM:149730	FGF10	2255	HP:0008572	External ear malformation
OMIM:149730	FGF10	2255	HP:0000396	Overfolded helix
OMIM:149730	FGF10	2255	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:149730	FGF10	2255	HP:0000490	Deeply set eye
OMIM:149730	FGF10	2255	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:149730	FGF10	2255	HP:0000368	Low-set, posteriorly rotated ears
OMIM:149730	FGF10	2255	HP:0000682	Abnormality of dental enamel
OMIM:149730	FGF10	2255	HP:0001177	Preaxial hand polydactyly
OMIM:149730	FGF10	2255	HP:0003022	Hypoplasia of the ulna
OMIM:149730	FGF10	2255	HP:0000112	Nephropathy
OMIM:149730	FGF10	2255	HP:0009738	Abnormality of the antihelix
OMIM:149730	FGF10	2255	HP:0006101	Finger syndactyly
OMIM:149730	FGF10	2255	HP:0000316	Hypertelorism
OMIM:149730	FGF10	2255	HP:0000378	Cupped ear
OMIM:149730	FGF10	2255	HP:0000670	Carious teeth
OMIM:149730	FGF10	2255	HP:0005105	Abnormal nasal morphology
OMIM:149730	FGF10	2255	HP:0004059	Radial club hand
OMIM:149730	FGF10	2255	HP:0000337	Broad forehead
OMIM:149730	FGF10	2255	HP:0000679	Taurodontia
OMIM:149730	FGF10	2255	HP:0001245	Small thenar eminence
OMIM:149730	FGF10	2255	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:149730	FGF10	2255	HP:0000974	Hyperextensible skin
OMIM:149730	FGF10	2255	HP:0002984	Hypoplasia of the radius
OMIM:149730	FGF10	2255	HP:0004209	Clinodactyly of the 5th finger
OMIM:149730	FGF10	2255	HP:0000202	Oral cleft
OMIM:149730	FGF10	2255	HP:0000691	Microdontia
OMIM:149730	FGF10	2255	HP:0100533	Inflammatory abnormality of the eye
OMIM:149730	FGF10	2255	HP:0010055	Broad hallux
OMIM:149730	FGF10	2255	HP:0002974	Radioulnar synostosis
OMIM:149730	FGF10	2255	HP:0000772	Abnormality of the ribs
OMIM:149730	FGF10	2255	HP:0000347	Micrognathia
OMIM:149730	FGF10	2255	HP:0000383	Abnormality of periauricular region
OMIM:149730	FGF10	2255	HP:0000629	Periorbital fullness
OMIM:149730	FGF10	2255	HP:0000453	Choanal atresia
OMIM:149730	FGF10	2255	HP:0006297	Hypoplasia of dental enamel
OMIM:149730	FGF10	2255	HP:0000506	Telecanthus
OMIM:149730	FGF10	2255	HP:0100258	Preaxial polydactyly
OMIM:149730	FGF10	2255	HP:0100499	Tibial deviation of toes
OMIM:149730	FGF10	2255	HP:0000405	Conductive hearing impairment
OMIM:149730	FGF10	2255	HP:0001199	Triphalangeal thumb
OMIM:149730	FGF10	2255	HP:0009804	Reduced number of teeth
OMIM:149730	FGF10	2255	HP:0100627	Displacement of the external urethral meatus
OMIM:149730	FGF10	2255	HP:0000508	Ptosis
OMIM:149730	FGF10	2255	HP:0000407	Sensorineural hearing impairment
OMIM:149730	FGF10	2255	HP:0000505	Visual impairment
OMIM:149730	FGF10	2255	HP:0001841	Preaxial foot polydactyly
OMIM:149730	FGF10	2255	HP:0000680	Delayed eruption of primary teeth
OMIM:614105	ALDH6A1	4329	HP:0001999	Abnormal facial shape
OMIM:614105	ALDH6A1	4329	HP:0001942	Metabolic acidosis
OMIM:614105	ALDH6A1	4329	HP:0000252	Microcephaly
OMIM:614105	ALDH6A1	4329	HP:0001263	Global developmental delay
OMIM:607225	ALS2	57679	HP:0000478	Abnormality of the eye
OMIM:607225	ALS2	57679	HP:0003593	Infantile onset
OMIM:607225	ALS2	57679	HP:0002650	Scoliosis
OMIM:607225	ALS2	57679	HP:0000496	Abnormality of eye movement
OMIM:607225	ALS2	57679	HP:0002366	Abnormal lower motor neuron morphology
OMIM:607225	ALS2	57679	HP:0008872	Feeding difficulties in infancy
OMIM:607225	ALS2	57679	HP:0003487	Babinski sign
OMIM:607225	ALS2	57679	HP:0001258	Spastic paraplegia
OMIM:607225	ALS2	57679	HP:0002445	Tetraplegia
OMIM:607225	ALS2	57679	HP:0003677	Slow progression
OMIM:607225	ALS2	57679	HP:0002167	Neurological speech impairment
OMIM:607225	ALS2	57679	HP:0001324	Muscle weakness
OMIM:607225	ALS2	57679	HP:0003676	Progressive
OMIM:607225	ALS2	57679	HP:0001347	Hyperreflexia
OMIM:607225	ALS2	57679	HP:0000271	Abnormality of the face
OMIM:607225	ALS2	57679	HP:0000007	Autosomal recessive inheritance
OMIM:607225	ALS2	57679	HP:0001276	Hypertonia
OMIM:607225	ALS2	57679	HP:0002425	Anarthria
OMIM:607225	ALS2	57679	HP:0002492	Abnormality of the corticospinal tract
OMIM:607225	ALS2	57679	HP:0002510	Spastic tetraplegia
OMIM:607225	ALS2	57679	HP:0001761	Pes cavus
OMIM:607225	ALS2	57679	HP:0004374	Hemiplegia/hemiparesis
OMIM:607225	ALS2	57679	HP:0001270	Motor delay
OMIM:607225	ALS2	57679	HP:0000020	Urinary incontinence
OMIM:607225	ALS2	57679	HP:0001771	Achilles tendon contracture
OMIM:607225	ALS2	57679	HP:0007256	Abnormal pyramidal signs
OMIM:607225	ALS2	57679	HP:0001260	Dysarthria
OMIM:607225	ALS2	57679	HP:0002200	Pseudobulbar signs
OMIM:277470	TSEN54	283989	HP:0012110	Hypoplasia of the pons
OMIM:277470	TSEN54	283989	HP:0000007	Autosomal recessive inheritance
OMIM:277470	TSEN54	283989	HP:0002179	Opisthotonus
OMIM:277470	TSEN54	283989	HP:0007772	Impaired smooth pursuit
OMIM:277470	TSEN54	283989	HP:0002518	Abnormality of the periventricular white matter
OMIM:277470	TSEN54	283989	HP:0002033	Poor suck
OMIM:277470	TSEN54	283989	HP:0003819	Death in childhood
OMIM:277470	TSEN54	283989	HP:0002120	Cerebral cortical atrophy
OMIM:277470	TSEN54	283989	HP:0000253	Progressive microcephaly
OMIM:277470	TSEN54	283989	HP:0001321	Cerebellar hypoplasia
OMIM:277470	TSEN54	283989	HP:0001250	Seizures
OMIM:277470	TSEN54	283989	HP:0003577	Congenital onset
OMIM:277470	TSEN54	283989	HP:0011344	Severe global developmental delay
OMIM:277470	TSEN54	283989	HP:0002171	Gliosis
OMIM:277470	TSEN54	283989	HP:0000711	Restlessness
OMIM:277470	TSEN34	79042	HP:0012110	Hypoplasia of the pons
OMIM:277470	TSEN34	79042	HP:0000007	Autosomal recessive inheritance
OMIM:277470	TSEN34	79042	HP:0002179	Opisthotonus
OMIM:277470	TSEN34	79042	HP:0007772	Impaired smooth pursuit
OMIM:277470	TSEN34	79042	HP:0002518	Abnormality of the periventricular white matter
OMIM:277470	TSEN34	79042	HP:0002033	Poor suck
OMIM:277470	TSEN34	79042	HP:0003819	Death in childhood
OMIM:277470	TSEN34	79042	HP:0002120	Cerebral cortical atrophy
OMIM:277470	TSEN34	79042	HP:0000253	Progressive microcephaly
OMIM:277470	TSEN34	79042	HP:0001321	Cerebellar hypoplasia
OMIM:277470	TSEN34	79042	HP:0001250	Seizures
OMIM:277470	TSEN34	79042	HP:0003577	Congenital onset
OMIM:277470	TSEN34	79042	HP:0011344	Severe global developmental delay
OMIM:277470	TSEN34	79042	HP:0002171	Gliosis
OMIM:277470	TSEN34	79042	HP:0000711	Restlessness
OMIM:277470	SEPSECS	51091	HP:0012110	Hypoplasia of the pons
OMIM:277470	SEPSECS	51091	HP:0000007	Autosomal recessive inheritance
OMIM:277470	SEPSECS	51091	HP:0002179	Opisthotonus
OMIM:277470	SEPSECS	51091	HP:0007772	Impaired smooth pursuit
OMIM:277470	SEPSECS	51091	HP:0002518	Abnormality of the periventricular white matter
OMIM:277470	SEPSECS	51091	HP:0002033	Poor suck
OMIM:277470	SEPSECS	51091	HP:0003819	Death in childhood
OMIM:277470	SEPSECS	51091	HP:0002120	Cerebral cortical atrophy
OMIM:277470	SEPSECS	51091	HP:0000253	Progressive microcephaly
OMIM:277470	SEPSECS	51091	HP:0001321	Cerebellar hypoplasia
OMIM:277470	SEPSECS	51091	HP:0001250	Seizures
OMIM:277470	SEPSECS	51091	HP:0003577	Congenital onset
OMIM:277470	SEPSECS	51091	HP:0011344	Severe global developmental delay
OMIM:277470	SEPSECS	51091	HP:0002171	Gliosis
OMIM:277470	SEPSECS	51091	HP:0000711	Restlessness
OMIM:277470	TSEN2	80746	HP:0012110	Hypoplasia of the pons
OMIM:277470	TSEN2	80746	HP:0000007	Autosomal recessive inheritance
OMIM:277470	TSEN2	80746	HP:0002179	Opisthotonus
OMIM:277470	TSEN2	80746	HP:0007772	Impaired smooth pursuit
OMIM:277470	TSEN2	80746	HP:0002518	Abnormality of the periventricular white matter
OMIM:277470	TSEN2	80746	HP:0002033	Poor suck
OMIM:277470	TSEN2	80746	HP:0003819	Death in childhood
OMIM:277470	TSEN2	80746	HP:0002120	Cerebral cortical atrophy
OMIM:277470	TSEN2	80746	HP:0000253	Progressive microcephaly
OMIM:277470	TSEN2	80746	HP:0001321	Cerebellar hypoplasia
OMIM:277470	TSEN2	80746	HP:0001250	Seizures
OMIM:277470	TSEN2	80746	HP:0003577	Congenital onset
OMIM:277470	TSEN2	80746	HP:0011344	Severe global developmental delay
OMIM:277470	TSEN2	80746	HP:0002171	Gliosis
OMIM:277470	TSEN2	80746	HP:0000711	Restlessness
OMIM:615957	ELOVL5	60481	HP:0000639	Nystagmus
OMIM:615957	ELOVL5	60481	HP:0001272	Cerebellar atrophy
OMIM:615957	ELOVL5	60481	HP:0001260	Dysarthria
OMIM:615957	ELOVL5	60481	HP:0002070	Limb ataxia
OMIM:615957	ELOVL5	60481	HP:0002066	Gait ataxia
OMIM:615957	ELOVL5	60481	HP:0003477	Peripheral axonal neuropathy
OMIM:226980	EIF2AK3	9451	HP:0001552	Barrel-shaped chest
OMIM:226980	EIF2AK3	9451	HP:0005978	Type II diabetes mellitus
OMIM:226980	EIF2AK3	9451	HP:0002240	Hepatomegaly
OMIM:226980	EIF2AK3	9451	HP:0002269	Abnormality of neuronal migration
OMIM:226980	EIF2AK3	9451	HP:0003307	Hyperlordosis
OMIM:226980	EIF2AK3	9451	HP:0001498	Carpal bone hypoplasia
OMIM:226980	EIF2AK3	9451	HP:0000582	Upslanted palpebral fissure
OMIM:226980	EIF2AK3	9451	HP:0001874	Abnormality of neutrophils
OMIM:226980	EIF2AK3	9451	HP:0002827	Hip dislocation
OMIM:226980	EIF2AK3	9451	HP:0000939	Osteoporosis
OMIM:226980	EIF2AK3	9451	HP:0002750	Delayed skeletal maturation
OMIM:226980	EIF2AK3	9451	HP:0000112	Nephropathy
OMIM:226980	EIF2AK3	9451	HP:0000252	Microcephaly
OMIM:226980	EIF2AK3	9451	HP:0001943	Hypoglycemia
OMIM:226980	EIF2AK3	9451	HP:0002757	Recurrent fractures
OMIM:226980	EIF2AK3	9451	HP:0002673	Coxa valga
OMIM:226980	EIF2AK3	9451	HP:0003593	Infantile onset
OMIM:226980	EIF2AK3	9451	HP:0000944	Abnormality of the metaphyses
OMIM:226980	EIF2AK3	9451	HP:0002910	Elevated hepatic transaminases
OMIM:226980	EIF2AK3	9451	HP:0030043	Hip Subluxation
OMIM:226980	EIF2AK3	9451	HP:0004322	Short stature
OMIM:226980	EIF2AK3	9451	HP:0001511	Intrauterine growth retardation
OMIM:226980	EIF2AK3	9451	HP:0002808	Kyphosis
OMIM:226980	EIF2AK3	9451	HP:0001250	Seizures
OMIM:226980	EIF2AK3	9451	HP:0001276	Hypertonia
OMIM:226980	EIF2AK3	9451	HP:0000316	Hypertelorism
OMIM:226980	EIF2AK3	9451	HP:0000007	Autosomal recessive inheritance
OMIM:226980	EIF2AK3	9451	HP:0005280	Depressed nasal bridge
OMIM:226980	EIF2AK3	9451	HP:0000821	Hypothyroidism
OMIM:226980	EIF2AK3	9451	HP:0010978	Abnormality of immune system physiology
OMIM:226980	EIF2AK3	9451	HP:0100543	Cognitive impairment
OMIM:226980	EIF2AK3	9451	HP:0001288	Gait disturbance
OMIM:226980	EIF2AK3	9451	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:226980	EIF2AK3	9451	HP:0000218	High palate
OMIM:226980	EIF2AK3	9451	HP:0000083	Renal insufficiency
OMIM:226980	EIF2AK3	9451	HP:0003071	Flattened epiphysis
OMIM:226980	EIF2AK3	9451	HP:0003301	Irregular vertebral endplates
OMIM:226980	EIF2AK3	9451	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:226980	EIF2AK3	9451	HP:0000926	Platyspondyly
OMIM:226980	EIF2AK3	9451	HP:0010306	Short thorax
OMIM:226980	EIF2AK3	9451	HP:0004467	Preauricular pit
OMIM:226980	EIF2AK3	9451	HP:0003311	Hypoplasia of the odontoid process
OMIM:226980	EIF2AK3	9451	HP:0002857	Genu valgum
OMIM:226980	EIF2AK3	9451	HP:0001156	Brachydactyly syndrome
OMIM:226980	EIF2AK3	9451	HP:0001263	Global developmental delay
OMIM:616345	IRF7	3665	HP:0000007	Autosomal recessive inheritance
OMIM:616345	IRF7	3665	HP:0002721	Immunodeficiency
OMIM:603233	STX16	8675	HP:0002901	Hypocalcemia
OMIM:603233	STX16	8675	HP:0001513	Obesity
OMIM:603233	STX16	8675	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:603233	STX16	8675	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:603233	STX16	8675	HP:0003745	Sporadic
OMIM:603233	STX16	8675	HP:0000006	Autosomal dominant inheritance
OMIM:603233	STX16	8675	HP:0000852	Pseudohypoparathyroidism
OMIM:603233	STX16	8675	HP:0001156	Brachydactyly syndrome
OMIM:603233	STX16	8675	HP:0010049	Short metacarpal
OMIM:603233	STX16	8675	HP:0002905	Hyperphosphatemia
OMIM:603233	GNAS	2778	HP:0002901	Hypocalcemia
OMIM:603233	GNAS	2778	HP:0001513	Obesity
OMIM:603233	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:603233	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:603233	GNAS	2778	HP:0003745	Sporadic
OMIM:603233	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:603233	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
OMIM:603233	GNAS	2778	HP:0001156	Brachydactyly syndrome
OMIM:603233	GNAS	2778	HP:0010049	Short metacarpal
OMIM:603233	GNAS	2778	HP:0002905	Hyperphosphatemia
OMIM:603233	GNAS-AS1	149775	HP:0002901	Hypocalcemia
OMIM:603233	GNAS-AS1	149775	HP:0001513	Obesity
OMIM:603233	GNAS-AS1	149775	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:603233	GNAS-AS1	149775	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:603233	GNAS-AS1	149775	HP:0003745	Sporadic
OMIM:603233	GNAS-AS1	149775	HP:0000006	Autosomal dominant inheritance
OMIM:603233	GNAS-AS1	149775	HP:0000852	Pseudohypoparathyroidism
OMIM:603233	GNAS-AS1	149775	HP:0001156	Brachydactyly syndrome
OMIM:603233	GNAS-AS1	149775	HP:0010049	Short metacarpal
OMIM:603233	GNAS-AS1	149775	HP:0002905	Hyperphosphatemia
OMIM:612301	TNFRSF11A	8792	HP:0001263	Global developmental delay
OMIM:612301	TNFRSF11A	8792	HP:0000529	Progressive visual loss
OMIM:612301	TNFRSF11A	8792	HP:0004313	Decreased antibody level in blood
OMIM:612301	TNFRSF11A	8792	HP:0006532	Recurrent pneumonia
OMIM:612301	TNFRSF11A	8792	HP:0000639	Nystagmus
OMIM:612301	TNFRSF11A	8792	HP:0000007	Autosomal recessive inheritance
OMIM:612301	TNFRSF11A	8792	HP:0001903	Anemia
OMIM:604213	GPSM2	29899	HP:0000238	Hydrocephalus
OMIM:604213	GPSM2	29899	HP:0001321	Cerebellar hypoplasia
OMIM:604213	GPSM2	29899	HP:0001338	Partial agenesis of the corpus callosum
OMIM:604213	GPSM2	29899	HP:0002126	Polymicrogyria
OMIM:604213	GPSM2	29899	HP:0002119	Ventriculomegaly
OMIM:604213	GPSM2	29899	HP:0002700	Large foramen magnum
OMIM:604213	GPSM2	29899	HP:0008625	Severe sensorineural hearing impairment
OMIM:604213	GPSM2	29899	HP:0006989	Dysplastic corpus callosum
OMIM:604213	GPSM2	29899	HP:0002281	Gray matter heterotopias
OMIM:604213	GPSM2	29899	HP:0001256	Intellectual disability, mild
OMIM:604213	GPSM2	29899	HP:0007033	Cerebellar dysplasia
OMIM:604213	GPSM2	29899	HP:0001250	Seizures
OMIM:604213	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:604213	GPSM2	29899	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610329	SAMHD1	25939	HP:0001347	Hyperreflexia
OMIM:610329	SAMHD1	25939	HP:0003819	Death in childhood
OMIM:610329	SAMHD1	25939	HP:0001332	Dystonia
OMIM:610329	SAMHD1	25939	HP:0001433	Hepatosplenomegaly
OMIM:610329	SAMHD1	25939	HP:0001873	Thrombocytopenia
OMIM:610329	SAMHD1	25939	HP:0012448	Delayed myelination
OMIM:610329	SAMHD1	25939	HP:0000007	Autosomal recessive inheritance
OMIM:610329	SAMHD1	25939	HP:0001298	Encephalopathy
OMIM:610329	SAMHD1	25939	HP:0000639	Nystagmus
OMIM:610329	SAMHD1	25939	HP:0011344	Severe global developmental delay
OMIM:610329	SAMHD1	25939	HP:0002910	Elevated hepatic transaminases
OMIM:610329	SAMHD1	25939	HP:0000253	Progressive microcephaly
OMIM:610329	SAMHD1	25939	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610329	SAMHD1	25939	HP:0002514	Cerebral calcification
OMIM:610329	SAMHD1	25939	HP:0001257	Spasticity
OMIM:610329	SAMHD1	25939	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610329	SAMHD1	25939	HP:0001252	Muscular hypotonia
OMIM:610329	RNASEH2B	79621	HP:0001347	Hyperreflexia
OMIM:610329	RNASEH2B	79621	HP:0003819	Death in childhood
OMIM:610329	RNASEH2B	79621	HP:0001332	Dystonia
OMIM:610329	RNASEH2B	79621	HP:0001433	Hepatosplenomegaly
OMIM:610329	RNASEH2B	79621	HP:0001873	Thrombocytopenia
OMIM:610329	RNASEH2B	79621	HP:0012448	Delayed myelination
OMIM:610329	RNASEH2B	79621	HP:0000007	Autosomal recessive inheritance
OMIM:610329	RNASEH2B	79621	HP:0001298	Encephalopathy
OMIM:610329	RNASEH2B	79621	HP:0000639	Nystagmus
OMIM:610329	RNASEH2B	79621	HP:0011344	Severe global developmental delay
OMIM:610329	RNASEH2B	79621	HP:0002910	Elevated hepatic transaminases
OMIM:610329	RNASEH2B	79621	HP:0000253	Progressive microcephaly
OMIM:610329	RNASEH2B	79621	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610329	RNASEH2B	79621	HP:0002514	Cerebral calcification
OMIM:610329	RNASEH2B	79621	HP:0001257	Spasticity
OMIM:610329	RNASEH2B	79621	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610329	RNASEH2B	79621	HP:0001252	Muscular hypotonia
OMIM:610329	RNASEH2A	10535	HP:0001347	Hyperreflexia
OMIM:610329	RNASEH2A	10535	HP:0003819	Death in childhood
OMIM:610329	RNASEH2A	10535	HP:0001332	Dystonia
OMIM:610329	RNASEH2A	10535	HP:0001433	Hepatosplenomegaly
OMIM:610329	RNASEH2A	10535	HP:0001873	Thrombocytopenia
OMIM:610329	RNASEH2A	10535	HP:0012448	Delayed myelination
OMIM:610329	RNASEH2A	10535	HP:0000007	Autosomal recessive inheritance
OMIM:610329	RNASEH2A	10535	HP:0001298	Encephalopathy
OMIM:610329	RNASEH2A	10535	HP:0000639	Nystagmus
OMIM:610329	RNASEH2A	10535	HP:0011344	Severe global developmental delay
OMIM:610329	RNASEH2A	10535	HP:0002910	Elevated hepatic transaminases
OMIM:610329	RNASEH2A	10535	HP:0000253	Progressive microcephaly
OMIM:610329	RNASEH2A	10535	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610329	RNASEH2A	10535	HP:0002514	Cerebral calcification
OMIM:610329	RNASEH2A	10535	HP:0001257	Spasticity
OMIM:610329	RNASEH2A	10535	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610329	RNASEH2A	10535	HP:0001252	Muscular hypotonia
OMIM:610329	ADAR	103	HP:0001347	Hyperreflexia
OMIM:610329	ADAR	103	HP:0003819	Death in childhood
OMIM:610329	ADAR	103	HP:0001332	Dystonia
OMIM:610329	ADAR	103	HP:0001433	Hepatosplenomegaly
OMIM:610329	ADAR	103	HP:0001873	Thrombocytopenia
OMIM:610329	ADAR	103	HP:0012448	Delayed myelination
OMIM:610329	ADAR	103	HP:0000007	Autosomal recessive inheritance
OMIM:610329	ADAR	103	HP:0001298	Encephalopathy
OMIM:610329	ADAR	103	HP:0000639	Nystagmus
OMIM:610329	ADAR	103	HP:0011344	Severe global developmental delay
OMIM:610329	ADAR	103	HP:0002910	Elevated hepatic transaminases
OMIM:610329	ADAR	103	HP:0000253	Progressive microcephaly
OMIM:610329	ADAR	103	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610329	ADAR	103	HP:0002514	Cerebral calcification
OMIM:610329	ADAR	103	HP:0001257	Spasticity
OMIM:610329	ADAR	103	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610329	ADAR	103	HP:0001252	Muscular hypotonia
OMIM:610329	IFIH1	64135	HP:0001347	Hyperreflexia
OMIM:610329	IFIH1	64135	HP:0003819	Death in childhood
OMIM:610329	IFIH1	64135	HP:0001332	Dystonia
OMIM:610329	IFIH1	64135	HP:0001433	Hepatosplenomegaly
OMIM:610329	IFIH1	64135	HP:0001873	Thrombocytopenia
OMIM:610329	IFIH1	64135	HP:0012448	Delayed myelination
OMIM:610329	IFIH1	64135	HP:0000007	Autosomal recessive inheritance
OMIM:610329	IFIH1	64135	HP:0001298	Encephalopathy
OMIM:610329	IFIH1	64135	HP:0000639	Nystagmus
OMIM:610329	IFIH1	64135	HP:0011344	Severe global developmental delay
OMIM:610329	IFIH1	64135	HP:0002910	Elevated hepatic transaminases
OMIM:610329	IFIH1	64135	HP:0000253	Progressive microcephaly
OMIM:610329	IFIH1	64135	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610329	IFIH1	64135	HP:0002514	Cerebral calcification
OMIM:610329	IFIH1	64135	HP:0001257	Spasticity
OMIM:610329	IFIH1	64135	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610329	IFIH1	64135	HP:0001252	Muscular hypotonia
OMIM:610329	RNASEH2C	84153	HP:0001347	Hyperreflexia
OMIM:610329	RNASEH2C	84153	HP:0003819	Death in childhood
OMIM:610329	RNASEH2C	84153	HP:0001332	Dystonia
OMIM:610329	RNASEH2C	84153	HP:0001433	Hepatosplenomegaly
OMIM:610329	RNASEH2C	84153	HP:0001873	Thrombocytopenia
OMIM:610329	RNASEH2C	84153	HP:0012448	Delayed myelination
OMIM:610329	RNASEH2C	84153	HP:0000007	Autosomal recessive inheritance
OMIM:610329	RNASEH2C	84153	HP:0001298	Encephalopathy
OMIM:610329	RNASEH2C	84153	HP:0000639	Nystagmus
OMIM:610329	RNASEH2C	84153	HP:0011344	Severe global developmental delay
OMIM:610329	RNASEH2C	84153	HP:0002910	Elevated hepatic transaminases
OMIM:610329	RNASEH2C	84153	HP:0000253	Progressive microcephaly
OMIM:610329	RNASEH2C	84153	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610329	RNASEH2C	84153	HP:0002514	Cerebral calcification
OMIM:610329	RNASEH2C	84153	HP:0001257	Spasticity
OMIM:610329	RNASEH2C	84153	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610329	RNASEH2C	84153	HP:0001252	Muscular hypotonia
OMIM:610329	TREX1	11277	HP:0001347	Hyperreflexia
OMIM:610329	TREX1	11277	HP:0003819	Death in childhood
OMIM:610329	TREX1	11277	HP:0001332	Dystonia
OMIM:610329	TREX1	11277	HP:0001433	Hepatosplenomegaly
OMIM:610329	TREX1	11277	HP:0001873	Thrombocytopenia
OMIM:610329	TREX1	11277	HP:0012448	Delayed myelination
OMIM:610329	TREX1	11277	HP:0000007	Autosomal recessive inheritance
OMIM:610329	TREX1	11277	HP:0001298	Encephalopathy
OMIM:610329	TREX1	11277	HP:0000639	Nystagmus
OMIM:610329	TREX1	11277	HP:0011344	Severe global developmental delay
OMIM:610329	TREX1	11277	HP:0002910	Elevated hepatic transaminases
OMIM:610329	TREX1	11277	HP:0000253	Progressive microcephaly
OMIM:610329	TREX1	11277	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610329	TREX1	11277	HP:0002514	Cerebral calcification
OMIM:610329	TREX1	11277	HP:0001257	Spasticity
OMIM:610329	TREX1	11277	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:610329	TREX1	11277	HP:0001252	Muscular hypotonia
OMIM:614886	PEX19	5824	HP:0001250	Seizures
OMIM:614886	PEX19	5824	HP:0000325	Triangular face
OMIM:614886	PEX19	5824	HP:0000431	Wide nasal bridge
OMIM:614886	PEX19	5824	HP:0002059	Cerebral atrophy
OMIM:614886	PEX19	5824	HP:0001081	Cholelithiasis
OMIM:614886	PEX19	5824	HP:0007305	CNS demyelination
OMIM:614886	PEX19	5824	HP:0001510	Growth delay
OMIM:614886	PEX19	5824	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX19	5824	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX19	5824	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX19	5824	HP:0001263	Global developmental delay
OMIM:614886	PEX19	5824	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX16	9409	HP:0001250	Seizures
OMIM:614886	PEX16	9409	HP:0000325	Triangular face
OMIM:614886	PEX16	9409	HP:0000431	Wide nasal bridge
OMIM:614886	PEX16	9409	HP:0002059	Cerebral atrophy
OMIM:614886	PEX16	9409	HP:0001081	Cholelithiasis
OMIM:614886	PEX16	9409	HP:0007305	CNS demyelination
OMIM:614886	PEX16	9409	HP:0001510	Growth delay
OMIM:614886	PEX16	9409	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX16	9409	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX16	9409	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX16	9409	HP:0001263	Global developmental delay
OMIM:614886	PEX16	9409	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX2	5828	HP:0001250	Seizures
OMIM:614886	PEX2	5828	HP:0000325	Triangular face
OMIM:614886	PEX2	5828	HP:0000431	Wide nasal bridge
OMIM:614886	PEX2	5828	HP:0002059	Cerebral atrophy
OMIM:614886	PEX2	5828	HP:0001081	Cholelithiasis
OMIM:614886	PEX2	5828	HP:0007305	CNS demyelination
OMIM:614886	PEX2	5828	HP:0001510	Growth delay
OMIM:614886	PEX2	5828	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX2	5828	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX2	5828	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX2	5828	HP:0001263	Global developmental delay
OMIM:614886	PEX2	5828	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX1	5189	HP:0001250	Seizures
OMIM:614886	PEX1	5189	HP:0000325	Triangular face
OMIM:614886	PEX1	5189	HP:0000431	Wide nasal bridge
OMIM:614886	PEX1	5189	HP:0002059	Cerebral atrophy
OMIM:614886	PEX1	5189	HP:0001081	Cholelithiasis
OMIM:614886	PEX1	5189	HP:0007305	CNS demyelination
OMIM:614886	PEX1	5189	HP:0001510	Growth delay
OMIM:614886	PEX1	5189	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX1	5189	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX1	5189	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX1	5189	HP:0001263	Global developmental delay
OMIM:614886	PEX1	5189	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX5	5830	HP:0001250	Seizures
OMIM:614886	PEX5	5830	HP:0000325	Triangular face
OMIM:614886	PEX5	5830	HP:0000431	Wide nasal bridge
OMIM:614886	PEX5	5830	HP:0002059	Cerebral atrophy
OMIM:614886	PEX5	5830	HP:0001081	Cholelithiasis
OMIM:614886	PEX5	5830	HP:0007305	CNS demyelination
OMIM:614886	PEX5	5830	HP:0001510	Growth delay
OMIM:614886	PEX5	5830	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX5	5830	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX5	5830	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX5	5830	HP:0001263	Global developmental delay
OMIM:614886	PEX5	5830	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX6	5190	HP:0001250	Seizures
OMIM:614886	PEX6	5190	HP:0000325	Triangular face
OMIM:614886	PEX6	5190	HP:0000431	Wide nasal bridge
OMIM:614886	PEX6	5190	HP:0002059	Cerebral atrophy
OMIM:614886	PEX6	5190	HP:0001081	Cholelithiasis
OMIM:614886	PEX6	5190	HP:0007305	CNS demyelination
OMIM:614886	PEX6	5190	HP:0001510	Growth delay
OMIM:614886	PEX6	5190	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX6	5190	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX6	5190	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX6	5190	HP:0001263	Global developmental delay
OMIM:614886	PEX6	5190	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX10	5192	HP:0001250	Seizures
OMIM:614886	PEX10	5192	HP:0000325	Triangular face
OMIM:614886	PEX10	5192	HP:0000431	Wide nasal bridge
OMIM:614886	PEX10	5192	HP:0002059	Cerebral atrophy
OMIM:614886	PEX10	5192	HP:0001081	Cholelithiasis
OMIM:614886	PEX10	5192	HP:0007305	CNS demyelination
OMIM:614886	PEX10	5192	HP:0001510	Growth delay
OMIM:614886	PEX10	5192	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX10	5192	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX10	5192	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX10	5192	HP:0001263	Global developmental delay
OMIM:614886	PEX10	5192	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX12	5193	HP:0001250	Seizures
OMIM:614886	PEX12	5193	HP:0000325	Triangular face
OMIM:614886	PEX12	5193	HP:0000431	Wide nasal bridge
OMIM:614886	PEX12	5193	HP:0002059	Cerebral atrophy
OMIM:614886	PEX12	5193	HP:0001081	Cholelithiasis
OMIM:614886	PEX12	5193	HP:0007305	CNS demyelination
OMIM:614886	PEX12	5193	HP:0001510	Growth delay
OMIM:614886	PEX12	5193	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX12	5193	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX12	5193	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX12	5193	HP:0001263	Global developmental delay
OMIM:614886	PEX12	5193	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX13	5194	HP:0001250	Seizures
OMIM:614886	PEX13	5194	HP:0000325	Triangular face
OMIM:614886	PEX13	5194	HP:0000431	Wide nasal bridge
OMIM:614886	PEX13	5194	HP:0002059	Cerebral atrophy
OMIM:614886	PEX13	5194	HP:0001081	Cholelithiasis
OMIM:614886	PEX13	5194	HP:0007305	CNS demyelination
OMIM:614886	PEX13	5194	HP:0001510	Growth delay
OMIM:614886	PEX13	5194	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX13	5194	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX13	5194	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX13	5194	HP:0001263	Global developmental delay
OMIM:614886	PEX13	5194	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX14	5195	HP:0001250	Seizures
OMIM:614886	PEX14	5195	HP:0000325	Triangular face
OMIM:614886	PEX14	5195	HP:0000431	Wide nasal bridge
OMIM:614886	PEX14	5195	HP:0002059	Cerebral atrophy
OMIM:614886	PEX14	5195	HP:0001081	Cholelithiasis
OMIM:614886	PEX14	5195	HP:0007305	CNS demyelination
OMIM:614886	PEX14	5195	HP:0001510	Growth delay
OMIM:614886	PEX14	5195	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX14	5195	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX14	5195	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX14	5195	HP:0001263	Global developmental delay
OMIM:614886	PEX14	5195	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX26	55670	HP:0001250	Seizures
OMIM:614886	PEX26	55670	HP:0000325	Triangular face
OMIM:614886	PEX26	55670	HP:0000431	Wide nasal bridge
OMIM:614886	PEX26	55670	HP:0002059	Cerebral atrophy
OMIM:614886	PEX26	55670	HP:0001081	Cholelithiasis
OMIM:614886	PEX26	55670	HP:0007305	CNS demyelination
OMIM:614886	PEX26	55670	HP:0001510	Growth delay
OMIM:614886	PEX26	55670	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX26	55670	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX26	55670	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX26	55670	HP:0001263	Global developmental delay
OMIM:614886	PEX26	55670	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX3	8504	HP:0001250	Seizures
OMIM:614886	PEX3	8504	HP:0000325	Triangular face
OMIM:614886	PEX3	8504	HP:0000431	Wide nasal bridge
OMIM:614886	PEX3	8504	HP:0002059	Cerebral atrophy
OMIM:614886	PEX3	8504	HP:0001081	Cholelithiasis
OMIM:614886	PEX3	8504	HP:0007305	CNS demyelination
OMIM:614886	PEX3	8504	HP:0001510	Growth delay
OMIM:614886	PEX3	8504	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX3	8504	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX3	8504	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX3	8504	HP:0001263	Global developmental delay
OMIM:614886	PEX3	8504	HP:0002910	Elevated hepatic transaminases
OMIM:614886	PEX11B	8799	HP:0001250	Seizures
OMIM:614886	PEX11B	8799	HP:0000325	Triangular face
OMIM:614886	PEX11B	8799	HP:0000431	Wide nasal bridge
OMIM:614886	PEX11B	8799	HP:0002059	Cerebral atrophy
OMIM:614886	PEX11B	8799	HP:0001081	Cholelithiasis
OMIM:614886	PEX11B	8799	HP:0007305	CNS demyelination
OMIM:614886	PEX11B	8799	HP:0001510	Growth delay
OMIM:614886	PEX11B	8799	HP:0002904	Hyperbilirubinemia
OMIM:614886	PEX11B	8799	HP:0009553	Abnormality of the hairline
OMIM:614886	PEX11B	8799	HP:0003103	Abnormal cortical bone morphology
OMIM:614886	PEX11B	8799	HP:0001263	Global developmental delay
OMIM:614886	PEX11B	8799	HP:0002910	Elevated hepatic transaminases
OMIM:243000	SCN10A	6336	HP:0004409	Hyposmia
OMIM:243000	SCN10A	6336	HP:0000007	Autosomal recessive inheritance
OMIM:243000	SCN10A	6336	HP:0001265	Hyporeflexia
OMIM:243000	SCN10A	6336	HP:0000458	Anosmia
OMIM:243000	SCN10A	6336	HP:0003593	Infantile onset
OMIM:243000	SCN10A	6336	HP:0002661	Painless fractures due to injury
OMIM:243000	SCN10A	6336	HP:0007021	Pain insensitivity
OMIM:243000	SCN11A	11280	HP:0004409	Hyposmia
OMIM:243000	SCN11A	11280	HP:0000007	Autosomal recessive inheritance
OMIM:243000	SCN11A	11280	HP:0001265	Hyporeflexia
OMIM:243000	SCN11A	11280	HP:0000458	Anosmia
OMIM:243000	SCN11A	11280	HP:0003593	Infantile onset
OMIM:243000	SCN11A	11280	HP:0002661	Painless fractures due to injury
OMIM:243000	SCN11A	11280	HP:0007021	Pain insensitivity
OMIM:243000	KIF1A	547	HP:0004409	Hyposmia
OMIM:243000	KIF1A	547	HP:0000007	Autosomal recessive inheritance
OMIM:243000	KIF1A	547	HP:0001265	Hyporeflexia
OMIM:243000	KIF1A	547	HP:0000458	Anosmia
OMIM:243000	KIF1A	547	HP:0003593	Infantile onset
OMIM:243000	KIF1A	547	HP:0002661	Painless fractures due to injury
OMIM:243000	KIF1A	547	HP:0007021	Pain insensitivity
OMIM:243000	WNK1	65125	HP:0004409	Hyposmia
OMIM:243000	WNK1	65125	HP:0000007	Autosomal recessive inheritance
OMIM:243000	WNK1	65125	HP:0001265	Hyporeflexia
OMIM:243000	WNK1	65125	HP:0000458	Anosmia
OMIM:243000	WNK1	65125	HP:0003593	Infantile onset
OMIM:243000	WNK1	65125	HP:0002661	Painless fractures due to injury
OMIM:243000	WNK1	65125	HP:0007021	Pain insensitivity
OMIM:243000	SCN9A	6335	HP:0004409	Hyposmia
OMIM:243000	SCN9A	6335	HP:0000007	Autosomal recessive inheritance
OMIM:243000	SCN9A	6335	HP:0001265	Hyporeflexia
OMIM:243000	SCN9A	6335	HP:0000458	Anosmia
OMIM:243000	SCN9A	6335	HP:0003593	Infantile onset
OMIM:243000	SCN9A	6335	HP:0002661	Painless fractures due to injury
OMIM:243000	SCN9A	6335	HP:0007021	Pain insensitivity
OMIM:243000	FAM134B	54463	HP:0004409	Hyposmia
OMIM:243000	FAM134B	54463	HP:0000007	Autosomal recessive inheritance
OMIM:243000	FAM134B	54463	HP:0001265	Hyporeflexia
OMIM:243000	FAM134B	54463	HP:0000458	Anosmia
OMIM:243000	FAM134B	54463	HP:0003593	Infantile onset
OMIM:243000	FAM134B	54463	HP:0002661	Painless fractures due to injury
OMIM:243000	FAM134B	54463	HP:0007021	Pain insensitivity
OMIM:136680	WT1	7490	HP:0000097	Focal segmental glomerulosclerosis
OMIM:136680	WT1	7490	HP:0001428	Somatic mutation
OMIM:136680	WT1	7490	HP:0000083	Renal insufficiency
OMIM:136680	WT1	7490	HP:0000037	Male pseudohermaphroditism
OMIM:136680	WT1	7490	HP:0000133	Gonadal dysgenesis
OMIM:136680	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:136680	WT1	7490	HP:0000786	Primary amenorrhea
OMIM:136680	WT1	7490	HP:0000100	Nephrotic syndrome
OMIM:136680	WT1	7490	HP:0003774	Stage 5 chronic kidney disease
OMIM:136680	WT1	7490	HP:0000093	Proteinuria
OMIM:613717	TCOF1	6949	HP:0000006	Autosomal dominant inheritance
OMIM:613717	TCOF1	6949	HP:0000452	Choanal stenosis
OMIM:613717	TCOF1	6949	HP:0000175	Cleft palate
OMIM:613717	TCOF1	6949	HP:0000347	Micrognathia
OMIM:613717	TCOF1	6949	HP:0000453	Choanal atresia
OMIM:613717	TCOF1	6949	HP:0000494	Downslanted palpebral fissures
OMIM:613717	POLR1D	51082	HP:0000006	Autosomal dominant inheritance
OMIM:613717	POLR1D	51082	HP:0000452	Choanal stenosis
OMIM:613717	POLR1D	51082	HP:0000175	Cleft palate
OMIM:613717	POLR1D	51082	HP:0000347	Micrognathia
OMIM:613717	POLR1D	51082	HP:0000453	Choanal atresia
OMIM:613717	POLR1D	51082	HP:0000494	Downslanted palpebral fissures
OMIM:613717	POLR1C	9533	HP:0000006	Autosomal dominant inheritance
OMIM:613717	POLR1C	9533	HP:0000452	Choanal stenosis
OMIM:613717	POLR1C	9533	HP:0000175	Cleft palate
OMIM:613717	POLR1C	9533	HP:0000347	Micrognathia
OMIM:613717	POLR1C	9533	HP:0000453	Choanal atresia
OMIM:613717	POLR1C	9533	HP:0000494	Downslanted palpebral fissures
OMIM:301500	GLA	2717	HP:0100543	Cognitive impairment
OMIM:301500	GLA	2717	HP:0000280	Coarse facial features
OMIM:301500	GLA	2717	HP:0000962	Hyperkeratosis
OMIM:301500	GLA	2717	HP:0002039	Anorexia
OMIM:301500	GLA	2717	HP:0001646	Abnormality of the aortic valve
OMIM:301500	GLA	2717	HP:0004306	Abnormality of the endocardium
OMIM:301500	GLA	2717	HP:0003394	Muscle cramps
OMIM:301500	GLA	2717	HP:0002093	Respiratory insufficiency
OMIM:301500	GLA	2717	HP:0002097	Emphysema
OMIM:301500	GLA	2717	HP:0006536	Obstructive lung disease
OMIM:301500	GLA	2717	HP:0006510	Chronic obstructive pulmonary disease
OMIM:301500	GLA	2717	HP:0002017	Nausea and vomiting
OMIM:301500	GLA	2717	HP:0000100	Nephrotic syndrome
OMIM:301500	GLA	2717	HP:0002823	Abnormality of the femur
OMIM:301500	GLA	2717	HP:0000112	Nephropathy
OMIM:301500	GLA	2717	HP:0002829	Arthralgia
OMIM:301500	GLA	2717	HP:0000966	Hypohidrosis
OMIM:301500	GLA	2717	HP:0000822	Hypertension
OMIM:301500	GLA	2717	HP:0001635	Congestive heart failure
OMIM:301500	GLA	2717	HP:0000083	Renal insufficiency
OMIM:301500	GLA	2717	HP:0001250	Seizures
OMIM:301500	GLA	2717	HP:0001419	X-linked recessive inheritance
OMIM:301500	GLA	2717	HP:0002027	Abdominal pain
OMIM:301500	GLA	2717	HP:0011675	Arrhythmia
OMIM:301500	GLA	2717	HP:0001903	Anemia
OMIM:301500	GLA	2717	HP:0001639	Hypertrophic cardiomyopathy
OMIM:301500	GLA	2717	HP:0002018	Nausea
OMIM:301500	GLA	2717	HP:0000708	Behavioral abnormality
OMIM:301500	GLA	2717	HP:0100585	Telangiectasia of the skin
OMIM:301500	GLA	2717	HP:0000179	Thick lower lip vermilion
OMIM:301500	GLA	2717	HP:0003401	Paresthesia
OMIM:301500	GLA	2717	HP:0001004	Lymphedema
OMIM:301500	GLA	2717	HP:0002013	Vomiting
OMIM:301500	GLA	2717	HP:0005144	Left ventricular septal hypertrophy
OMIM:301500	GLA	2717	HP:0004370	Abnormality of temperature regulation
OMIM:301500	GLA	2717	HP:0002380	Fasciculations
OMIM:301500	GLA	2717	HP:0002014	Diarrhea
OMIM:301500	GLA	2717	HP:0007759	Opacification of the corneal stroma
OMIM:301500	GLA	2717	HP:0004349	Reduced bone mineral density
OMIM:301500	GLA	2717	HP:0000078	Abnormality of the genital system
OMIM:301500	GLA	2717	HP:0000093	Proteinuria
OMIM:301500	GLA	2717	HP:0001131	Corneal dystrophy
OMIM:301500	GLA	2717	HP:0000790	Hematuria
OMIM:301500	GLA	2717	HP:0004322	Short stature
OMIM:301500	GLA	2717	HP:0003621	Juvenile onset
OMIM:301500	GLA	2717	HP:0001155	Abnormality of the hand
OMIM:301500	GLA	2717	HP:0002024	Malabsorption
OMIM:301500	GLA	2717	HP:0003326	Myalgia
OMIM:301500	GLA	2717	HP:0000648	Optic atrophy
OMIM:301500	GLA	2717	HP:0002637	Cerebral ischemia
OMIM:301500	GLA	2717	HP:0002376	Developmental regression
OMIM:301500	GLA	2717	HP:0000873	Diabetes insipidus
OMIM:301500	GLA	2717	HP:0000091	Abnormality of the renal tubule
OMIM:301500	GLA	2717	HP:0000407	Sensorineural hearing impairment
OMIM:301500	GLA	2717	HP:0002321	Vertigo
OMIM:301500	GLA	2717	HP:0001369	Arthritis
OMIM:301500	GLA	2717	HP:0001658	Myocardial infarction
OMIM:301500	GLA	2717	HP:0001633	Abnormality of the mitral valve
OMIM:301500	GLA	2717	HP:0001677	Coronary artery disease
OMIM:301500	GLA	2717	HP:0003119	Abnormality of lipid metabolism
OMIM:301500	GLA	2717	HP:0000518	Cataract
OMIM:301500	GLA	2717	HP:0001712	Left ventricular hypertrophy
OMIM:613502	BLNK	29760	HP:0011109	Chronic sinusitis
OMIM:613502	BLNK	29760	HP:0000007	Autosomal recessive inheritance
OMIM:613502	BLNK	29760	HP:0004432	Agammaglobulinemia
OMIM:613502	BLNK	29760	HP:0000403	Recurrent otitis media
OMIM:613502	BLNK	29760	HP:0002014	Diarrhea
OMIM:613502	BLNK	29760	HP:0001875	Neutropenia
OMIM:613502	BLNK	29760	HP:0002718	Recurrent bacterial infections
OMIM:613502	BLNK	29760	HP:0003593	Infantile onset
OMIM:613502	BLNK	29760	HP:0006532	Recurrent pneumonia
OMIM:613502	TCF3	6929	HP:0011109	Chronic sinusitis
OMIM:613502	TCF3	6929	HP:0000007	Autosomal recessive inheritance
OMIM:613502	TCF3	6929	HP:0004432	Agammaglobulinemia
OMIM:613502	TCF3	6929	HP:0000403	Recurrent otitis media
OMIM:613502	TCF3	6929	HP:0002014	Diarrhea
OMIM:613502	TCF3	6929	HP:0001875	Neutropenia
OMIM:613502	TCF3	6929	HP:0002718	Recurrent bacterial infections
OMIM:613502	TCF3	6929	HP:0003593	Infantile onset
OMIM:613502	TCF3	6929	HP:0006532	Recurrent pneumonia
OMIM:613502	IGHM	3507	HP:0011109	Chronic sinusitis
OMIM:613502	IGHM	3507	HP:0000007	Autosomal recessive inheritance
OMIM:613502	IGHM	3507	HP:0004432	Agammaglobulinemia
OMIM:613502	IGHM	3507	HP:0000403	Recurrent otitis media
OMIM:613502	IGHM	3507	HP:0002014	Diarrhea
OMIM:613502	IGHM	3507	HP:0001875	Neutropenia
OMIM:613502	IGHM	3507	HP:0002718	Recurrent bacterial infections
OMIM:613502	IGHM	3507	HP:0003593	Infantile onset
OMIM:613502	IGHM	3507	HP:0006532	Recurrent pneumonia
OMIM:613502	LRRC8A	56262	HP:0011109	Chronic sinusitis
OMIM:613502	LRRC8A	56262	HP:0000007	Autosomal recessive inheritance
OMIM:613502	LRRC8A	56262	HP:0004432	Agammaglobulinemia
OMIM:613502	LRRC8A	56262	HP:0000403	Recurrent otitis media
OMIM:613502	LRRC8A	56262	HP:0002014	Diarrhea
OMIM:613502	LRRC8A	56262	HP:0001875	Neutropenia
OMIM:613502	LRRC8A	56262	HP:0002718	Recurrent bacterial infections
OMIM:613502	LRRC8A	56262	HP:0003593	Infantile onset
OMIM:613502	LRRC8A	56262	HP:0006532	Recurrent pneumonia
OMIM:613502	IGLL1	3543	HP:0011109	Chronic sinusitis
OMIM:613502	IGLL1	3543	HP:0000007	Autosomal recessive inheritance
OMIM:613502	IGLL1	3543	HP:0004432	Agammaglobulinemia
OMIM:613502	IGLL1	3543	HP:0000403	Recurrent otitis media
OMIM:613502	IGLL1	3543	HP:0002014	Diarrhea
OMIM:613502	IGLL1	3543	HP:0001875	Neutropenia
OMIM:613502	IGLL1	3543	HP:0002718	Recurrent bacterial infections
OMIM:613502	IGLL1	3543	HP:0003593	Infantile onset
OMIM:613502	IGLL1	3543	HP:0006532	Recurrent pneumonia
OMIM:613502	CD79A	973	HP:0011109	Chronic sinusitis
OMIM:613502	CD79A	973	HP:0000007	Autosomal recessive inheritance
OMIM:613502	CD79A	973	HP:0004432	Agammaglobulinemia
OMIM:613502	CD79A	973	HP:0000403	Recurrent otitis media
OMIM:613502	CD79A	973	HP:0002014	Diarrhea
OMIM:613502	CD79A	973	HP:0001875	Neutropenia
OMIM:613502	CD79A	973	HP:0002718	Recurrent bacterial infections
OMIM:613502	CD79A	973	HP:0003593	Infantile onset
OMIM:613502	CD79A	973	HP:0006532	Recurrent pneumonia
OMIM:613502	CD79B	974	HP:0011109	Chronic sinusitis
OMIM:613502	CD79B	974	HP:0000007	Autosomal recessive inheritance
OMIM:613502	CD79B	974	HP:0004432	Agammaglobulinemia
OMIM:613502	CD79B	974	HP:0000403	Recurrent otitis media
OMIM:613502	CD79B	974	HP:0002014	Diarrhea
OMIM:613502	CD79B	974	HP:0001875	Neutropenia
OMIM:613502	CD79B	974	HP:0002718	Recurrent bacterial infections
OMIM:613502	CD79B	974	HP:0003593	Infantile onset
OMIM:613502	CD79B	974	HP:0006532	Recurrent pneumonia
OMIM:613502	PIK3R1	5295	HP:0011109	Chronic sinusitis
OMIM:613502	PIK3R1	5295	HP:0000007	Autosomal recessive inheritance
OMIM:613502	PIK3R1	5295	HP:0004432	Agammaglobulinemia
OMIM:613502	PIK3R1	5295	HP:0000403	Recurrent otitis media
OMIM:613502	PIK3R1	5295	HP:0002014	Diarrhea
OMIM:613502	PIK3R1	5295	HP:0001875	Neutropenia
OMIM:613502	PIK3R1	5295	HP:0002718	Recurrent bacterial infections
OMIM:613502	PIK3R1	5295	HP:0003593	Infantile onset
OMIM:613502	PIK3R1	5295	HP:0006532	Recurrent pneumonia
OMIM:612447	ZBTB16	7704	HP:0003038	Fibular hypoplasia
OMIM:612447	ZBTB16	7704	HP:0000007	Autosomal recessive inheritance
OMIM:612447	ZBTB16	7704	HP:0000233	Thin vermilion border
OMIM:612447	ZBTB16	7704	HP:0009777	Absent thumb
OMIM:612447	ZBTB16	7704	HP:0000054	Micropenis
OMIM:612447	ZBTB16	7704	HP:0000486	Strabismus
OMIM:612447	ZBTB16	7704	HP:0004322	Short stature
OMIM:612447	ZBTB16	7704	HP:0001249	Intellectual disability
OMIM:612447	ZBTB16	7704	HP:0000252	Microcephaly
OMIM:612447	ZBTB16	7704	HP:0002750	Delayed skeletal maturation
OMIM:612447	ZBTB16	7704	HP:0005736	Short tibia
OMIM:612447	ZBTB16	7704	HP:0000028	Cryptorchidism
OMIM:612447	ZBTB16	7704	HP:0000160	Narrow mouth
OMIM:612447	ZBTB16	7704	HP:0003022	Hypoplasia of the ulna
OMIM:612447	ZBTB16	7704	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:613087	TLL1	7092	HP:0001662	Bradycardia
OMIM:613087	TLL1	7092	HP:0000006	Autosomal dominant inheritance
OMIM:613087	TLL1	7092	HP:0005110	Atrial fibrillation
OMIM:613087	TLL1	7092	HP:0001631	Atria septal defect
OMIM:231680	ETFA	2108	HP:0000803	Renal cortical cysts
OMIM:231680	ETFA	2108	HP:0002089	Pulmonary hypoplasia
OMIM:231680	ETFA	2108	HP:0000113	Polycystic kidney dysplasia
OMIM:231680	ETFA	2108	HP:0001943	Hypoglycemia
OMIM:231680	ETFA	2108	HP:0000519	Congenital cataract
OMIM:231680	ETFA	2108	HP:0002018	Nausea
OMIM:231680	ETFA	2108	HP:0005280	Depressed nasal bridge
OMIM:231680	ETFA	2108	HP:0000348	High forehead
OMIM:231680	ETFA	2108	HP:0002013	Vomiting
OMIM:231680	ETFA	2108	HP:0001252	Muscular hypotonia
OMIM:231680	ETFA	2108	HP:0000952	Jaundice
OMIM:231680	ETFA	2108	HP:0002098	Respiratory distress
OMIM:231680	ETFA	2108	HP:0002171	Gliosis
OMIM:231680	ETFA	2108	HP:0000078	Abnormality of the genital system
OMIM:231680	ETFA	2108	HP:0001302	Pachygyria
OMIM:231680	ETFA	2108	HP:0001397	Hepatic steatosis
OMIM:231680	ETFA	2108	HP:0000377	Abnormality of the pinna
OMIM:231680	ETFA	2108	HP:0000007	Autosomal recessive inheritance
OMIM:231680	ETFA	2108	HP:0002240	Hepatomegaly
OMIM:231680	ETFA	2108	HP:0000256	Macrocephaly
OMIM:231680	ETFA	2108	HP:0000506	Telecanthus
OMIM:231680	ETFA	2108	HP:0001999	Abnormal facial shape
OMIM:231680	ETFA	2108	HP:0001324	Muscle weakness
OMIM:231680	ETFB	2109	HP:0000803	Renal cortical cysts
OMIM:231680	ETFB	2109	HP:0002089	Pulmonary hypoplasia
OMIM:231680	ETFB	2109	HP:0000113	Polycystic kidney dysplasia
OMIM:231680	ETFB	2109	HP:0001943	Hypoglycemia
OMIM:231680	ETFB	2109	HP:0000519	Congenital cataract
OMIM:231680	ETFB	2109	HP:0002018	Nausea
OMIM:231680	ETFB	2109	HP:0005280	Depressed nasal bridge
OMIM:231680	ETFB	2109	HP:0000348	High forehead
OMIM:231680	ETFB	2109	HP:0002013	Vomiting
OMIM:231680	ETFB	2109	HP:0001252	Muscular hypotonia
OMIM:231680	ETFB	2109	HP:0000952	Jaundice
OMIM:231680	ETFB	2109	HP:0002098	Respiratory distress
OMIM:231680	ETFB	2109	HP:0002171	Gliosis
OMIM:231680	ETFB	2109	HP:0000078	Abnormality of the genital system
OMIM:231680	ETFB	2109	HP:0001302	Pachygyria
OMIM:231680	ETFB	2109	HP:0001397	Hepatic steatosis
OMIM:231680	ETFB	2109	HP:0000377	Abnormality of the pinna
OMIM:231680	ETFB	2109	HP:0000007	Autosomal recessive inheritance
OMIM:231680	ETFB	2109	HP:0002240	Hepatomegaly
OMIM:231680	ETFB	2109	HP:0000256	Macrocephaly
OMIM:231680	ETFB	2109	HP:0000506	Telecanthus
OMIM:231680	ETFB	2109	HP:0001999	Abnormal facial shape
OMIM:231680	ETFB	2109	HP:0001324	Muscle weakness
OMIM:231680	ETFDH	2110	HP:0000803	Renal cortical cysts
OMIM:231680	ETFDH	2110	HP:0002089	Pulmonary hypoplasia
OMIM:231680	ETFDH	2110	HP:0000113	Polycystic kidney dysplasia
OMIM:231680	ETFDH	2110	HP:0001943	Hypoglycemia
OMIM:231680	ETFDH	2110	HP:0000519	Congenital cataract
OMIM:231680	ETFDH	2110	HP:0002018	Nausea
OMIM:231680	ETFDH	2110	HP:0005280	Depressed nasal bridge
OMIM:231680	ETFDH	2110	HP:0000348	High forehead
OMIM:231680	ETFDH	2110	HP:0002013	Vomiting
OMIM:231680	ETFDH	2110	HP:0001252	Muscular hypotonia
OMIM:231680	ETFDH	2110	HP:0000952	Jaundice
OMIM:231680	ETFDH	2110	HP:0002098	Respiratory distress
OMIM:231680	ETFDH	2110	HP:0002171	Gliosis
OMIM:231680	ETFDH	2110	HP:0000078	Abnormality of the genital system
OMIM:231680	ETFDH	2110	HP:0001302	Pachygyria
OMIM:231680	ETFDH	2110	HP:0001397	Hepatic steatosis
OMIM:231680	ETFDH	2110	HP:0000377	Abnormality of the pinna
OMIM:231680	ETFDH	2110	HP:0000007	Autosomal recessive inheritance
OMIM:231680	ETFDH	2110	HP:0002240	Hepatomegaly
OMIM:231680	ETFDH	2110	HP:0000256	Macrocephaly
OMIM:231680	ETFDH	2110	HP:0000506	Telecanthus
OMIM:231680	ETFDH	2110	HP:0001999	Abnormal facial shape
OMIM:231680	ETFDH	2110	HP:0001324	Muscle weakness
OMIM:307830	SLC22A12	116085	HP:0001419	X-linked recessive inheritance
OMIM:307830	SLC2A9	56606	HP:0001419	X-linked recessive inheritance
ORPHANET:97229	SLC52A2	79581	HP:0000648	Optic atrophy
ORPHANET:97229	SLC52A2	79581	HP:0002270	Abnormality of the autonomic nervous system
ORPHANET:97229	SLC52A2	79581	HP:0000738	Hallucinations
ORPHANET:97229	SLC52A2	79581	HP:0001337	Tremor
ORPHANET:97229	SLC52A2	79581	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:97229	SLC52A2	79581	HP:0000505	Visual impairment
ORPHANET:97229	SLC52A2	79581	HP:0004325	Decreased body weight
ORPHANET:97229	SLC52A2	79581	HP:0002167	Neurological speech impairment
ORPHANET:97229	SLC52A2	79581	HP:0100543	Cognitive impairment
ORPHANET:97229	SLC52A2	79581	HP:0000078	Abnormality of the genital system
ORPHANET:97229	SLC52A2	79581	HP:0001103	Abnormality of the macula
ORPHANET:97229	SLC52A2	79581	HP:0002120	Cerebral cortical atrophy
ORPHANET:97229	SLC52A2	79581	HP:0002104	Apnea
ORPHANET:97229	SLC52A2	79581	HP:0002311	Incoordination
ORPHANET:97229	SLC52A2	79581	HP:0000873	Diabetes insipidus
ORPHANET:97229	SLC52A2	79581	HP:0001252	Muscular hypotonia
ORPHANET:97229	SLC52A2	79581	HP:0000551	Abnormality of color vision
ORPHANET:97229	SLC52A2	79581	HP:0006824	Cranial nerve paralysis
ORPHANET:97229	SLC52A2	79581	HP:0002093	Respiratory insufficiency
ORPHANET:97229	SLC52A2	79581	HP:0000407	Sensorineural hearing impairment
ORPHANET:97229	SLC52A2	79581	HP:0000822	Hypertension
ORPHANET:97229	SLC52A2	79581	HP:0004305	Involuntary movements
ORPHANET:97229	SLC52A2	79581	HP:0008872	Feeding difficulties in infancy
ORPHANET:97229	SLC52A2	79581	HP:0001250	Seizures
ORPHANET:97229	SLC52A2	79581	HP:0003202	Skeletal muscle atrophy
ORPHANET:97229	SLC52A2	79581	HP:0001315	Reduced tendon reflexes
ORPHANET:97229	SLC52A2	79581	HP:0001324	Muscle weakness
ORPHANET:97229	SLC52A3	113278	HP:0000648	Optic atrophy
ORPHANET:97229	SLC52A3	113278	HP:0002270	Abnormality of the autonomic nervous system
ORPHANET:97229	SLC52A3	113278	HP:0000738	Hallucinations
ORPHANET:97229	SLC52A3	113278	HP:0001337	Tremor
ORPHANET:97229	SLC52A3	113278	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:97229	SLC52A3	113278	HP:0000505	Visual impairment
ORPHANET:97229	SLC52A3	113278	HP:0004325	Decreased body weight
ORPHANET:97229	SLC52A3	113278	HP:0002167	Neurological speech impairment
ORPHANET:97229	SLC52A3	113278	HP:0100543	Cognitive impairment
ORPHANET:97229	SLC52A3	113278	HP:0000078	Abnormality of the genital system
ORPHANET:97229	SLC52A3	113278	HP:0001103	Abnormality of the macula
ORPHANET:97229	SLC52A3	113278	HP:0002120	Cerebral cortical atrophy
ORPHANET:97229	SLC52A3	113278	HP:0002104	Apnea
ORPHANET:97229	SLC52A3	113278	HP:0002311	Incoordination
ORPHANET:97229	SLC52A3	113278	HP:0000873	Diabetes insipidus
ORPHANET:97229	SLC52A3	113278	HP:0001252	Muscular hypotonia
ORPHANET:97229	SLC52A3	113278	HP:0000551	Abnormality of color vision
ORPHANET:97229	SLC52A3	113278	HP:0006824	Cranial nerve paralysis
ORPHANET:97229	SLC52A3	113278	HP:0002093	Respiratory insufficiency
ORPHANET:97229	SLC52A3	113278	HP:0000407	Sensorineural hearing impairment
ORPHANET:97229	SLC52A3	113278	HP:0000822	Hypertension
ORPHANET:97229	SLC52A3	113278	HP:0004305	Involuntary movements
ORPHANET:97229	SLC52A3	113278	HP:0008872	Feeding difficulties in infancy
ORPHANET:97229	SLC52A3	113278	HP:0001250	Seizures
ORPHANET:97229	SLC52A3	113278	HP:0003202	Skeletal muscle atrophy
ORPHANET:97229	SLC52A3	113278	HP:0001315	Reduced tendon reflexes
ORPHANET:97229	SLC52A3	113278	HP:0001324	Muscle weakness
OMIM:616482	FGFR3	2261	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616482	FGFR3	2261	HP:0001263	Global developmental delay
OMIM:616482	FGFR3	2261	HP:0008905	Rhizomelia
OMIM:616482	FGFR3	2261	HP:0000388	Otitis media
OMIM:616482	FGFR3	2261	HP:0003510	Severe short stature
OMIM:616482	FGFR3	2261	HP:0011800	Hypoplasia of midface
OMIM:616482	FGFR3	2261	HP:0002007	Frontal bossing
OMIM:616482	FGFR3	2261	HP:0001250	Seizures
OMIM:616482	FGFR3	2261	HP:0000577	Exotropia
OMIM:616482	FGFR3	2261	HP:0001249	Intellectual disability
OMIM:616482	FGFR3	2261	HP:0002992	Abnormality of the tibia
OMIM:616482	FGFR3	2261	HP:0002991	Abnormality of the fibula
OMIM:616482	FGFR3	2261	HP:0000926	Platyspondyly
OMIM:616482	FGFR3	2261	HP:0002020	Gastroesophageal reflux
OMIM:616482	FGFR3	2261	HP:0001635	Congestive heart failure
OMIM:616482	FGFR3	2261	HP:0002823	Abnormality of the femur
OMIM:616482	FGFR3	2261	HP:0005280	Depressed nasal bridge
OMIM:616482	FGFR3	2261	HP:0000238	Hydrocephalus
OMIM:616482	FGFR3	2261	HP:0011003	Severe Myopia
OMIM:616482	FGFR3	2261	HP:0100543	Cognitive impairment
OMIM:616482	FGFR3	2261	HP:0000956	Acanthosis nigricans
OMIM:616482	FGFR3	2261	HP:0002938	Lumbar hyperlordosis
OMIM:616482	FGFR3	2261	HP:0002808	Kyphosis
OMIM:616482	FGFR3	2261	HP:0010535	Sleep apnea
OMIM:616482	FGFR3	2261	HP:0000889	Abnormality of the clavicle
OMIM:616482	FGFR3	2261	HP:0002871	Central apnea
ORPHANET:388	SEMA3C	10512	HP:0005214	Intestinal obstruction
ORPHANET:388	SEMA3C	10512	HP:0004322	Short stature
ORPHANET:388	SEMA3C	10512	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:388	SEMA3C	10512	HP:0002027	Abdominal pain
ORPHANET:388	SEMA3C	10512	HP:0001181	Adducted thumb
ORPHANET:388	SEMA3C	10512	HP:0002014	Diarrhea
ORPHANET:388	SEMA3C	10512	HP:0100543	Cognitive impairment
ORPHANET:388	SEMA3C	10512	HP:0100806	Sepsis
ORPHANET:388	SEMA3C	10512	HP:0001824	Weight loss
ORPHANET:388	SEMA3C	10512	HP:0000407	Sensorineural hearing impairment
ORPHANET:388	SEMA3C	10512	HP:0002251	Aganglionic megacolon
ORPHANET:388	SEMA3C	10512	HP:0002019	Constipation
ORPHANET:388	SEMA3C	10512	HP:0200008	Intestinal polyposis
ORPHANET:388	SEMA3C	10512	HP:0002017	Nausea and vomiting
ORPHANET:388	ECE1	1889	HP:0005214	Intestinal obstruction
ORPHANET:388	ECE1	1889	HP:0004322	Short stature
ORPHANET:388	ECE1	1889	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:388	ECE1	1889	HP:0002027	Abdominal pain
ORPHANET:388	ECE1	1889	HP:0001181	Adducted thumb
ORPHANET:388	ECE1	1889	HP:0002014	Diarrhea
ORPHANET:388	ECE1	1889	HP:0100543	Cognitive impairment
ORPHANET:388	ECE1	1889	HP:0100806	Sepsis
ORPHANET:388	ECE1	1889	HP:0001824	Weight loss
ORPHANET:388	ECE1	1889	HP:0000407	Sensorineural hearing impairment
ORPHANET:388	ECE1	1889	HP:0002251	Aganglionic megacolon
ORPHANET:388	ECE1	1889	HP:0002019	Constipation
ORPHANET:388	ECE1	1889	HP:0200008	Intestinal polyposis
ORPHANET:388	ECE1	1889	HP:0002017	Nausea and vomiting
ORPHANET:388	EDN3	1908	HP:0005214	Intestinal obstruction
ORPHANET:388	EDN3	1908	HP:0004322	Short stature
ORPHANET:388	EDN3	1908	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:388	EDN3	1908	HP:0002027	Abdominal pain
ORPHANET:388	EDN3	1908	HP:0001181	Adducted thumb
ORPHANET:388	EDN3	1908	HP:0002014	Diarrhea
ORPHANET:388	EDN3	1908	HP:0100543	Cognitive impairment
ORPHANET:388	EDN3	1908	HP:0100806	Sepsis
ORPHANET:388	EDN3	1908	HP:0001824	Weight loss
ORPHANET:388	EDN3	1908	HP:0000407	Sensorineural hearing impairment
ORPHANET:388	EDN3	1908	HP:0002251	Aganglionic megacolon
ORPHANET:388	EDN3	1908	HP:0002019	Constipation
ORPHANET:388	EDN3	1908	HP:0200008	Intestinal polyposis
ORPHANET:388	EDN3	1908	HP:0002017	Nausea and vomiting
ORPHANET:388	EDNRB	1910	HP:0005214	Intestinal obstruction
ORPHANET:388	EDNRB	1910	HP:0004322	Short stature
ORPHANET:388	EDNRB	1910	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:388	EDNRB	1910	HP:0002027	Abdominal pain
ORPHANET:388	EDNRB	1910	HP:0001181	Adducted thumb
ORPHANET:388	EDNRB	1910	HP:0002014	Diarrhea
ORPHANET:388	EDNRB	1910	HP:0100543	Cognitive impairment
ORPHANET:388	EDNRB	1910	HP:0100806	Sepsis
ORPHANET:388	EDNRB	1910	HP:0001824	Weight loss
ORPHANET:388	EDNRB	1910	HP:0000407	Sensorineural hearing impairment
ORPHANET:388	EDNRB	1910	HP:0002251	Aganglionic megacolon
ORPHANET:388	EDNRB	1910	HP:0002019	Constipation
ORPHANET:388	EDNRB	1910	HP:0200008	Intestinal polyposis
ORPHANET:388	EDNRB	1910	HP:0002017	Nausea and vomiting
ORPHANET:388	NRTN	4902	HP:0005214	Intestinal obstruction
ORPHANET:388	NRTN	4902	HP:0004322	Short stature
ORPHANET:388	NRTN	4902	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:388	NRTN	4902	HP:0002027	Abdominal pain
ORPHANET:388	NRTN	4902	HP:0001181	Adducted thumb
ORPHANET:388	NRTN	4902	HP:0002014	Diarrhea
ORPHANET:388	NRTN	4902	HP:0100543	Cognitive impairment
ORPHANET:388	NRTN	4902	HP:0100806	Sepsis
ORPHANET:388	NRTN	4902	HP:0001824	Weight loss
ORPHANET:388	NRTN	4902	HP:0000407	Sensorineural hearing impairment
ORPHANET:388	NRTN	4902	HP:0002251	Aganglionic megacolon
ORPHANET:388	NRTN	4902	HP:0002019	Constipation
ORPHANET:388	NRTN	4902	HP:0200008	Intestinal polyposis
ORPHANET:388	NRTN	4902	HP:0002017	Nausea and vomiting
ORPHANET:388	RET	5979	HP:0005214	Intestinal obstruction
ORPHANET:388	RET	5979	HP:0004322	Short stature
ORPHANET:388	RET	5979	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:388	RET	5979	HP:0002027	Abdominal pain
ORPHANET:388	RET	5979	HP:0001181	Adducted thumb
ORPHANET:388	RET	5979	HP:0002014	Diarrhea
ORPHANET:388	RET	5979	HP:0100543	Cognitive impairment
ORPHANET:388	RET	5979	HP:0100806	Sepsis
ORPHANET:388	RET	5979	HP:0001824	Weight loss
ORPHANET:388	RET	5979	HP:0000407	Sensorineural hearing impairment
ORPHANET:388	RET	5979	HP:0002251	Aganglionic megacolon
ORPHANET:388	RET	5979	HP:0002019	Constipation
ORPHANET:388	RET	5979	HP:0200008	Intestinal polyposis
ORPHANET:388	RET	5979	HP:0002017	Nausea and vomiting
ORPHANET:388	GDNF	2668	HP:0005214	Intestinal obstruction
ORPHANET:388	GDNF	2668	HP:0004322	Short stature
ORPHANET:388	GDNF	2668	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:388	GDNF	2668	HP:0002027	Abdominal pain
ORPHANET:388	GDNF	2668	HP:0001181	Adducted thumb
ORPHANET:388	GDNF	2668	HP:0002014	Diarrhea
ORPHANET:388	GDNF	2668	HP:0100543	Cognitive impairment
ORPHANET:388	GDNF	2668	HP:0100806	Sepsis
ORPHANET:388	GDNF	2668	HP:0001824	Weight loss
ORPHANET:388	GDNF	2668	HP:0000407	Sensorineural hearing impairment
ORPHANET:388	GDNF	2668	HP:0002251	Aganglionic megacolon
ORPHANET:388	GDNF	2668	HP:0002019	Constipation
ORPHANET:388	GDNF	2668	HP:0200008	Intestinal polyposis
ORPHANET:388	GDNF	2668	HP:0002017	Nausea and vomiting
ORPHANET:388	SEMA3D	223117	HP:0005214	Intestinal obstruction
ORPHANET:388	SEMA3D	223117	HP:0004322	Short stature
ORPHANET:388	SEMA3D	223117	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:388	SEMA3D	223117	HP:0002027	Abdominal pain
ORPHANET:388	SEMA3D	223117	HP:0001181	Adducted thumb
ORPHANET:388	SEMA3D	223117	HP:0002014	Diarrhea
ORPHANET:388	SEMA3D	223117	HP:0100543	Cognitive impairment
ORPHANET:388	SEMA3D	223117	HP:0100806	Sepsis
ORPHANET:388	SEMA3D	223117	HP:0001824	Weight loss
ORPHANET:388	SEMA3D	223117	HP:0000407	Sensorineural hearing impairment
ORPHANET:388	SEMA3D	223117	HP:0002251	Aganglionic megacolon
ORPHANET:388	SEMA3D	223117	HP:0002019	Constipation
ORPHANET:388	SEMA3D	223117	HP:0200008	Intestinal polyposis
ORPHANET:388	SEMA3D	223117	HP:0002017	Nausea and vomiting
OMIM:616307	WDR19	57728	HP:0000505	Visual impairment
OMIM:616307	WDR19	57728	HP:0007663	Reduced visual acuity
OMIM:616307	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:616307	WDR19	57728	HP:0001407	Hepatic cysts
OMIM:616307	CEP164	22897	HP:0000505	Visual impairment
OMIM:616307	CEP164	22897	HP:0007663	Reduced visual acuity
OMIM:616307	CEP164	22897	HP:0000090	Nephronophthisis
OMIM:616307	CEP164	22897	HP:0001407	Hepatic cysts
OMIM:616307	TRAF3IP1	26146	HP:0000505	Visual impairment
OMIM:616307	TRAF3IP1	26146	HP:0007663	Reduced visual acuity
OMIM:616307	TRAF3IP1	26146	HP:0000090	Nephronophthisis
OMIM:616307	TRAF3IP1	26146	HP:0001407	Hepatic cysts
OMIM:616307	NPHP1	4867	HP:0000505	Visual impairment
OMIM:616307	NPHP1	4867	HP:0007663	Reduced visual acuity
OMIM:616307	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:616307	NPHP1	4867	HP:0001407	Hepatic cysts
OMIM:616307	NPHP4	261734	HP:0000505	Visual impairment
OMIM:616307	NPHP4	261734	HP:0007663	Reduced visual acuity
OMIM:616307	NPHP4	261734	HP:0000090	Nephronophthisis
OMIM:616307	NPHP4	261734	HP:0001407	Hepatic cysts
OMIM:616307	SDCCAG8	10806	HP:0000505	Visual impairment
OMIM:616307	SDCCAG8	10806	HP:0007663	Reduced visual acuity
OMIM:616307	SDCCAG8	10806	HP:0000090	Nephronophthisis
OMIM:616307	SDCCAG8	10806	HP:0001407	Hepatic cysts
OMIM:616307	NPHP3	27031	HP:0000505	Visual impairment
OMIM:616307	NPHP3	27031	HP:0007663	Reduced visual acuity
OMIM:616307	NPHP3	27031	HP:0000090	Nephronophthisis
OMIM:616307	NPHP3	27031	HP:0001407	Hepatic cysts
OMIM:616307	CEP290	80184	HP:0000505	Visual impairment
OMIM:616307	CEP290	80184	HP:0007663	Reduced visual acuity
OMIM:616307	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:616307	CEP290	80184	HP:0001407	Hepatic cysts
OMIM:616307	IQCB1	9657	HP:0000505	Visual impairment
OMIM:616307	IQCB1	9657	HP:0007663	Reduced visual acuity
OMIM:616307	IQCB1	9657	HP:0000090	Nephronophthisis
OMIM:616307	IQCB1	9657	HP:0001407	Hepatic cysts
OMIM:616307	INVS	27130	HP:0000505	Visual impairment
OMIM:616307	INVS	27130	HP:0007663	Reduced visual acuity
OMIM:616307	INVS	27130	HP:0000090	Nephronophthisis
OMIM:616307	INVS	27130	HP:0001407	Hepatic cysts
OMIM:117100	SRPX2	27286	HP:0003745	Sporadic
OMIM:117100	SRPX2	27286	HP:0012557	EEG with centrotemporal focal spike waves
OMIM:117100	SRPX2	27286	HP:0007334	Bilateral convulsive seizures
OMIM:117100	GABRG2	2566	HP:0003745	Sporadic
OMIM:117100	GABRG2	2566	HP:0012557	EEG with centrotemporal focal spike waves
OMIM:117100	GABRG2	2566	HP:0007334	Bilateral convulsive seizures
OMIM:117100	GRIN2A	2903	HP:0003745	Sporadic
OMIM:117100	GRIN2A	2903	HP:0012557	EEG with centrotemporal focal spike waves
OMIM:117100	GRIN2A	2903	HP:0007334	Bilateral convulsive seizures
OMIM:150700	COL4A5	1287	HP:0000006	Autosomal dominant inheritance
OMIM:150700	COL4A5	1287	HP:0000057	Clitoromegaly
OMIM:150700	COL4A6	1288	HP:0000006	Autosomal dominant inheritance
OMIM:150700	COL4A6	1288	HP:0000057	Clitoromegaly
OMIM:612416	F11	2160	HP:0000007	Autosomal recessive inheritance
OMIM:612416	F11	2160	HP:0001892	Abnormal bleeding
OMIM:612416	F11	2160	HP:0000006	Autosomal dominant inheritance
OMIM:613094	VSX2	338917	HP:0000568	Microphthalmia
OMIM:613094	VSX2	338917	HP:0010469	Aplasia of the testes
OMIM:613094	VSX2	338917	HP:0100259	Postaxial polydactyly
OMIM:613094	VSX2	338917	HP:0000589	Coloboma
OMIM:613094	VSX2	338917	HP:0000006	Autosomal dominant inheritance
OMIM:613094	SOX2	6657	HP:0000568	Microphthalmia
OMIM:613094	SOX2	6657	HP:0010469	Aplasia of the testes
OMIM:613094	SOX2	6657	HP:0100259	Postaxial polydactyly
OMIM:613094	SOX2	6657	HP:0000589	Coloboma
OMIM:613094	SOX2	6657	HP:0000006	Autosomal dominant inheritance
OMIM:613094	GDF3	9573	HP:0000568	Microphthalmia
OMIM:613094	GDF3	9573	HP:0010469	Aplasia of the testes
OMIM:613094	GDF3	9573	HP:0100259	Postaxial polydactyly
OMIM:613094	GDF3	9573	HP:0000589	Coloboma
OMIM:613094	GDF3	9573	HP:0000006	Autosomal dominant inheritance
OMIM:613094	OTX2	5015	HP:0000568	Microphthalmia
OMIM:613094	OTX2	5015	HP:0010469	Aplasia of the testes
OMIM:613094	OTX2	5015	HP:0100259	Postaxial polydactyly
OMIM:613094	OTX2	5015	HP:0000589	Coloboma
OMIM:613094	OTX2	5015	HP:0000006	Autosomal dominant inheritance
OMIM:613094	PRSS56	646960	HP:0000568	Microphthalmia
OMIM:613094	PRSS56	646960	HP:0010469	Aplasia of the testes
OMIM:613094	PRSS56	646960	HP:0100259	Postaxial polydactyly
OMIM:613094	PRSS56	646960	HP:0000589	Coloboma
OMIM:613094	PRSS56	646960	HP:0000006	Autosomal dominant inheritance
OMIM:613094	GDF6	392255	HP:0000568	Microphthalmia
OMIM:613094	GDF6	392255	HP:0010469	Aplasia of the testes
OMIM:613094	GDF6	392255	HP:0100259	Postaxial polydactyly
OMIM:613094	GDF6	392255	HP:0000589	Coloboma
OMIM:613094	GDF6	392255	HP:0000006	Autosomal dominant inheritance
OMIM:613094	ALDH1A3	220	HP:0000568	Microphthalmia
OMIM:613094	ALDH1A3	220	HP:0010469	Aplasia of the testes
OMIM:613094	ALDH1A3	220	HP:0100259	Postaxial polydactyly
OMIM:613094	ALDH1A3	220	HP:0000589	Coloboma
OMIM:613094	ALDH1A3	220	HP:0000006	Autosomal dominant inheritance
OMIM:613094	SIX6	4990	HP:0000568	Microphthalmia
OMIM:613094	SIX6	4990	HP:0010469	Aplasia of the testes
OMIM:613094	SIX6	4990	HP:0100259	Postaxial polydactyly
OMIM:613094	SIX6	4990	HP:0000589	Coloboma
OMIM:613094	SIX6	4990	HP:0000006	Autosomal dominant inheritance
OMIM:613094	RAX	30062	HP:0000568	Microphthalmia
OMIM:613094	RAX	30062	HP:0010469	Aplasia of the testes
OMIM:613094	RAX	30062	HP:0100259	Postaxial polydactyly
OMIM:613094	RAX	30062	HP:0000589	Coloboma
OMIM:613094	RAX	30062	HP:0000006	Autosomal dominant inheritance
OMIM:602723	CARD14	79092	HP:0000962	Hyperkeratosis
OMIM:148000	IL6R	3570	HP:0000988	Skin rash
OMIM:148000	IL6R	3570	HP:0001903	Anemia
OMIM:148000	IL6R	3570	HP:0002027	Abdominal pain
OMIM:148000	IL6R	3570	HP:0007440	Generalized hyperpigmentation
OMIM:148000	IL6R	3570	HP:0000821	Hypothyroidism
OMIM:148000	IL6R	3570	HP:0002716	Lymphadenopathy
OMIM:148000	IL6R	3570	HP:0001933	Subcutaneous hemorrhage
OMIM:148000	IL6R	3570	HP:0001824	Weight loss
OMIM:148000	IL6R	3570	HP:0001369	Arthritis
OMIM:148000	IL6R	3570	HP:0001034	Hypermelanotic macule
OMIM:148000	IL6R	3570	HP:0001182	Tapered finger
OMIM:148000	IL6R	3570	HP:0009830	Peripheral neuropathy
OMIM:148000	IL6R	3570	HP:0002664	Neoplasm
OMIM:148000	IL6R	3570	HP:0001004	Lymphedema
OMIM:148000	IL6R	3570	HP:0001541	Ascites
OMIM:148000	IL6R	3570	HP:0004370	Abnormality of temperature regulation
OMIM:148000	IL6R	3570	HP:0000819	Diabetes mellitus
OMIM:148000	IL6R	3570	HP:0000869	Secondary amenorrhea
OMIM:148000	IL6R	3570	HP:0000998	Hypertrichosis
OMIM:148000	IL6R	3570	HP:0001873	Thrombocytopenia
OMIM:148000	IL6R	3570	HP:0100749	Chest pain
OMIM:148000	IL6R	3570	HP:0000006	Autosomal dominant inheritance
OMIM:148000	IL6R	3570	HP:0010701	Abnormal immunoglobulin level
OMIM:148000	IL6R	3570	HP:0000969	Edema
OMIM:148000	IL6R	3570	HP:0001744	Splenomegaly
OMIM:148000	IL6R	3570	HP:0000083	Renal insufficiency
OMIM:148000	IL6R	3570	HP:0000093	Proteinuria
OMIM:148000	IL6R	3570	HP:0002240	Hepatomegaly
OMIM:148820	PAX3	5077	HP:0000506	Telecanthus
OMIM:148820	PAX3	5077	HP:0003828	Variable expressivity
OMIM:148820	PAX3	5077	HP:0100543	Cognitive impairment
OMIM:148820	PAX3	5077	HP:0002211	White forelock
OMIM:148820	PAX3	5077	HP:0006101	Finger syndactyly
OMIM:148820	PAX3	5077	HP:0001053	Hypopigmented skin patches
OMIM:148820	PAX3	5077	HP:0009702	Carpal synostosis
OMIM:148820	PAX3	5077	HP:0001063	Acrocyanosis
OMIM:148820	PAX3	5077	HP:0005599	Hypopigmentation of hair
OMIM:148820	PAX3	5077	HP:0100750	Atelectasis
OMIM:148820	PAX3	5077	HP:0000635	Blue irides
OMIM:148820	PAX3	5077	HP:0001376	Limitation of joint mobility
OMIM:148820	PAX3	5077	HP:0000431	Wide nasal bridge
OMIM:148820	PAX3	5077	HP:0001276	Hypertonia
OMIM:148820	PAX3	5077	HP:0002779	Tracheomalacia
OMIM:148820	PAX3	5077	HP:0000252	Microcephaly
OMIM:148820	PAX3	5077	HP:0001258	Spastic paraplegia
OMIM:148820	PAX3	5077	HP:0001631	Atria septal defect
OMIM:148820	PAX3	5077	HP:0000581	Blepharophimosis
OMIM:148820	PAX3	5077	HP:0002216	Premature graying of hair
OMIM:148820	PAX3	5077	HP:0000574	Thick eyebrow
OMIM:148820	PAX3	5077	HP:0000407	Sensorineural hearing impairment
OMIM:148820	PAX3	5077	HP:0000494	Downslanted palpebral fissures
OMIM:148820	PAX3	5077	HP:0000365	Hearing impairment
OMIM:148820	PAX3	5077	HP:0000303	Mandibular prognathia
OMIM:148820	PAX3	5077	HP:0000446	Narrow nasal bridge
OMIM:148820	PAX3	5077	HP:0001156	Brachydactyly syndrome
OMIM:148820	PAX3	5077	HP:0100490	Camptodactyly of finger
OMIM:148820	PAX3	5077	HP:0010554	Cutaneous finger syndactyly
OMIM:148820	PAX3	5077	HP:0005048	Synostosis of carpal bones
OMIM:148820	PAX3	5077	HP:0002251	Aganglionic megacolon
OMIM:148820	PAX3	5077	HP:0000426	Prominent nasal bridge
OMIM:148820	PAX3	5077	HP:0000664	Synophrys
OMIM:148820	PAX3	5077	HP:0000007	Autosomal recessive inheritance
OMIM:148820	PAX3	5077	HP:0001100	Heterochromia iridis
OMIM:148820	PAX3	5077	HP:0001249	Intellectual disability
OMIM:148820	PAX3	5077	HP:0003691	Scapular winging
OMIM:148820	PAX3	5077	HP:0010804	Tented upper lip vermilion
OMIM:148820	PAX3	5077	HP:0030084	Clinodactyly
OMIM:614932	PNPT1	87178	HP:0006829	Severe muscular hypotonia
OMIM:614932	PNPT1	87178	HP:0003202	Skeletal muscle atrophy
OMIM:614932	PNPT1	87178	HP:0001265	Hyporeflexia
OMIM:614932	PNPT1	87178	HP:0001332	Dystonia
OMIM:614932	PNPT1	87178	HP:0001510	Growth delay
OMIM:614932	PNPT1	87178	HP:0001266	Choreoathetosis
OMIM:614932	PNPT1	87178	HP:0100660	Dyskinesia
OMIM:614932	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:614932	PNPT1	87178	HP:0001344	Absent speech
OMIM:133700	EXT1	2131	HP:0001760	Abnormality of the foot
OMIM:133700	EXT1	2131	HP:0002812	Coxa vara
OMIM:133700	EXT1	2131	HP:0004322	Short stature
OMIM:133700	EXT1	2131	HP:0010049	Short metacarpal
OMIM:133700	EXT1	2131	HP:0000006	Autosomal dominant inheritance
OMIM:133700	EXT1	2131	HP:0003621	Juvenile onset
OMIM:133700	EXT1	2131	HP:0002857	Genu valgum
OMIM:133700	EXT2	2132	HP:0001760	Abnormality of the foot
OMIM:133700	EXT2	2132	HP:0002812	Coxa vara
OMIM:133700	EXT2	2132	HP:0004322	Short stature
OMIM:133700	EXT2	2132	HP:0010049	Short metacarpal
OMIM:133700	EXT2	2132	HP:0000006	Autosomal dominant inheritance
OMIM:133700	EXT2	2132	HP:0003621	Juvenile onset
OMIM:133700	EXT2	2132	HP:0002857	Genu valgum
OMIM:179780	DPEP1	1800	HP:0000006	Autosomal dominant inheritance
OMIM:131750	COL7A1	1294	HP:0012211	Abnormal renal physiology
OMIM:131750	COL7A1	1294	HP:0000670	Carious teeth
OMIM:131750	COL7A1	1294	HP:0001075	Atrophic scars
OMIM:131750	COL7A1	1294	HP:0001903	Anemia
OMIM:131750	COL7A1	1294	HP:0003577	Congenital onset
OMIM:131750	COL7A1	1294	HP:0000795	Abnormality of the urethra
OMIM:131750	COL7A1	1294	HP:0008404	Nail dystrophy
OMIM:131750	COL7A1	1294	HP:0001231	Abnormality of the fingernails
OMIM:131750	COL7A1	1294	HP:0002164	Nail dysplasia
OMIM:131750	COL7A1	1294	HP:0002575	Tracheoesophageal fistula
OMIM:131750	COL7A1	1294	HP:0001053	Hypopigmented skin patches
OMIM:131750	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
OMIM:131750	COL7A1	1294	HP:0008388	Abnormality of the toenails
OMIM:131750	COL7A1	1294	HP:0008872	Feeding difficulties in infancy
OMIM:268220	FOXO1	2308	HP:0000007	Autosomal recessive inheritance
OMIM:268220	PAX3	5077	HP:0000007	Autosomal recessive inheritance
OMIM:268220	PAX7	5081	HP:0000007	Autosomal recessive inheritance
OMIM:400045	SRY	6736	HP:0100627	Displacement of the external urethral meatus
OMIM:400045	SRY	6736	HP:0010459	True hermaphroditism
OMIM:400045	SRY	6736	HP:0000046	Scrotal hypoplasia
OMIM:400045	SRY	6736	HP:0008736	Hypoplasia of penis
OMIM:400045	SRY	6736	HP:0001450	Y-linked inheritance
OMIM:400045	SRY	6736	HP:0000022	Abnormality of male internal genitalia
OMIM:400045	SRY	6736	HP:0000048	Bifid scrotum
OMIM:400045	SRY	6736	HP:0000147	Polycystic ovaries
OMIM:400045	SRY	6736	HP:0000144	Decreased fertility
OMIM:400045	SRY	6736	HP:0012245	Sex reversal
OMIM:400045	SRY	6736	HP:0000028	Cryptorchidism
OMIM:400045	SRY	6736	HP:0100779	Urogenital sinus anomaly
OMIM:400045	SOX3	6658	HP:0100627	Displacement of the external urethral meatus
OMIM:400045	SOX3	6658	HP:0010459	True hermaphroditism
OMIM:400045	SOX3	6658	HP:0000046	Scrotal hypoplasia
OMIM:400045	SOX3	6658	HP:0008736	Hypoplasia of penis
OMIM:400045	SOX3	6658	HP:0001450	Y-linked inheritance
OMIM:400045	SOX3	6658	HP:0000022	Abnormality of male internal genitalia
OMIM:400045	SOX3	6658	HP:0000048	Bifid scrotum
OMIM:400045	SOX3	6658	HP:0000147	Polycystic ovaries
OMIM:400045	SOX3	6658	HP:0000144	Decreased fertility
OMIM:400045	SOX3	6658	HP:0012245	Sex reversal
OMIM:400045	SOX3	6658	HP:0000028	Cryptorchidism
OMIM:400045	SOX3	6658	HP:0100779	Urogenital sinus anomaly
OMIM:400045	SOX9	6662	HP:0100627	Displacement of the external urethral meatus
OMIM:400045	SOX9	6662	HP:0010459	True hermaphroditism
OMIM:400045	SOX9	6662	HP:0000046	Scrotal hypoplasia
OMIM:400045	SOX9	6662	HP:0008736	Hypoplasia of penis
OMIM:400045	SOX9	6662	HP:0001450	Y-linked inheritance
OMIM:400045	SOX9	6662	HP:0000022	Abnormality of male internal genitalia
OMIM:400045	SOX9	6662	HP:0000048	Bifid scrotum
OMIM:400045	SOX9	6662	HP:0000147	Polycystic ovaries
OMIM:400045	SOX9	6662	HP:0000144	Decreased fertility
OMIM:400045	SOX9	6662	HP:0012245	Sex reversal
OMIM:400045	SOX9	6662	HP:0000028	Cryptorchidism
OMIM:400045	SOX9	6662	HP:0100779	Urogenital sinus anomaly
ORPHANET:3103	ESCO2	157570	HP:0000040	Long penis
ORPHANET:3103	ESCO2	157570	HP:0001511	Intrauterine growth retardation
ORPHANET:3103	ESCO2	157570	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:3103	ESCO2	157570	HP:0000252	Microcephaly
ORPHANET:3103	ESCO2	157570	HP:0000520	Proptosis
ORPHANET:3103	ESCO2	157570	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:3103	ESCO2	157570	HP:0000055	Abnormality of female external genitalia
ORPHANET:3103	ESCO2	157570	HP:0001873	Thrombocytopenia
ORPHANET:3103	ESCO2	157570	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:3103	ESCO2	157570	HP:0006443	Patellar aplasia
ORPHANET:3103	ESCO2	157570	HP:0000470	Short neck
ORPHANET:3103	ESCO2	157570	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:3103	ESCO2	157570	HP:0100543	Cognitive impairment
ORPHANET:3103	ESCO2	157570	HP:0000174	Abnormality of the palate
ORPHANET:3103	ESCO2	157570	HP:0006487	Bowing of the long bones
ORPHANET:3103	ESCO2	157570	HP:0001622	Premature birth
ORPHANET:3103	ESCO2	157570	HP:0000003	Multicystic kidney dysplasia
ORPHANET:3103	ESCO2	157570	HP:0001561	Polyhydramnios
ORPHANET:3103	ESCO2	157570	HP:0000639	Nystagmus
ORPHANET:3103	ESCO2	157570	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:3103	ESCO2	157570	HP:0000518	Cataract
ORPHANET:3103	ESCO2	157570	HP:0001363	Craniosynostosis
ORPHANET:3103	ESCO2	157570	HP:0000954	Single transverse palmar crease
ORPHANET:3103	ESCO2	157570	HP:0000316	Hypertelorism
ORPHANET:3103	ESCO2	157570	HP:0000430	Underdeveloped nasal alae
ORPHANET:3103	ESCO2	157570	HP:0000592	Blue sclerae
ORPHANET:3103	ESCO2	157570	HP:0006101	Finger syndactyly
ORPHANET:3103	ESCO2	157570	HP:0001852	Sandal gap
ORPHANET:3103	ESCO2	157570	HP:0005048	Synostosis of carpal bones
ORPHANET:3103	ESCO2	157570	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHANET:3103	ESCO2	157570	HP:0000501	Glaucoma
ORPHANET:3103	ESCO2	157570	HP:0001156	Brachydactyly syndrome
ORPHANET:3103	ESCO2	157570	HP:0002974	Radioulnar synostosis
ORPHANET:3103	ESCO2	157570	HP:0004322	Short stature
ORPHANET:3103	ESCO2	157570	HP:0011362	Abnormal hair quantity
ORPHANET:3103	ESCO2	157570	HP:0000202	Oral cleft
ORPHANET:3103	ESCO2	157570	HP:0000028	Cryptorchidism
ORPHANET:3103	ESCO2	157570	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:3103	ESCO2	157570	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:3103	ESCO2	157570	HP:0000347	Micrognathia
OMIM:616451	IBA57	200205	HP:0001258	Spastic paraplegia
OMIM:616451	IBA57	200205	HP:0000648	Optic atrophy
OMIM:616451	IBA57	200205	HP:0001123	Visual field defect
OMIM:616451	IBA57	200205	HP:0002936	Distal sensory impairment
OMIM:616451	IBA57	200205	HP:0000505	Visual impairment
OMIM:616451	IBA57	200205	HP:0003487	Babinski sign
OMIM:616451	IBA57	200205	HP:0003477	Peripheral axonal neuropathy
OMIM:611544	CRYBA2	1412	HP:0100018	Nuclear cataract
OMIM:611544	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:611544	CRYBA2	1412	HP:0000007	Autosomal recessive inheritance
OMIM:611544	CRYBB1	1414	HP:0100018	Nuclear cataract
OMIM:611544	CRYBB1	1414	HP:0000519	Congenital cataract
OMIM:611544	CRYBB1	1414	HP:0000007	Autosomal recessive inheritance
OMIM:611544	AGK	55750	HP:0100018	Nuclear cataract
OMIM:611544	AGK	55750	HP:0000519	Congenital cataract
OMIM:611544	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:611544	GCNT2	2651	HP:0100018	Nuclear cataract
OMIM:611544	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:611544	GCNT2	2651	HP:0000007	Autosomal recessive inheritance
OMIM:125250	OPA1	4976	HP:0003812	Phenotypic variability
OMIM:125250	OPA1	4976	HP:0000408	Progressive sensorineural hearing impairment
OMIM:125250	OPA1	4976	HP:0000006	Autosomal dominant inheritance
OMIM:125250	OPA1	4976	HP:0000642	Red-green dyschromatopsia
OMIM:125250	OPA1	4976	HP:0000648	Optic atrophy
OMIM:125250	OPA1	4976	HP:0000603	Central scotoma
OMIM:125250	OPA1	4976	HP:0000602	Ophthalmoplegia
OMIM:125250	OPA1	4976	HP:0007663	Reduced visual acuity
OMIM:125250	OPA1	4976	HP:0009830	Peripheral neuropathy
OMIM:125250	OPA1	4976	HP:0001251	Ataxia
OMIM:125250	OPA1	4976	HP:0000508	Ptosis
OMIM:125250	OPA1	4976	HP:0003198	Myopathy
OMIM:125250	OPA1	4976	HP:0006958	Abnormal auditory evoked potentials
OMIM:125250	OPA1	4976	HP:0000505	Visual impairment
OMIM:125250	OPA1	4976	HP:0000486	Strabismus
OMIM:125250	OPA1	4976	HP:0000552	Tritanomaly
OMIM:609441	BMPR1B	658	HP:0009803	Short phalanx of finger
OMIM:609441	BMPR1B	658	HP:0000013	Hypoplasia of the uterus
OMIM:609441	BMPR1B	658	HP:0000815	Hypergonadotropic hypogonadism
OMIM:609441	BMPR1B	658	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:609441	BMPR1B	658	HP:0000007	Autosomal recessive inheritance
OMIM:609441	BMPR1B	658	HP:0009466	Radial deviation of finger
OMIM:609441	BMPR1B	658	HP:0100864	Short femoral neck
OMIM:609441	BMPR1B	658	HP:0001762	Talipes equinovarus
OMIM:609441	BMPR1B	658	HP:0001831	Short toe
OMIM:609441	BMPR1B	658	HP:0008368	Tarsal synostosis
OMIM:609441	BMPR1B	658	HP:0000786	Primary amenorrhea
OMIM:609441	BMPR1B	658	HP:0009381	Short finger
OMIM:609441	BMPR1B	658	HP:0008873	Disproportionate short-limb short stature
OMIM:609441	BMPR1B	658	HP:0009702	Carpal synostosis
OMIM:609441	BMPR1B	658	HP:0003022	Hypoplasia of the ulna
OMIM:614879	PHYH	5264	HP:0001249	Intellectual disability
OMIM:614879	PHYH	5264	HP:0000510	Rod-cone dystrophy
OMIM:614879	PHYH	5264	HP:0000007	Autosomal recessive inheritance
OMIM:614879	PHYH	5264	HP:0000518	Cataract
OMIM:614879	PHYH	5264	HP:0000407	Sensorineural hearing impairment
OMIM:614879	PEX7	5191	HP:0001249	Intellectual disability
OMIM:614879	PEX7	5191	HP:0000510	Rod-cone dystrophy
OMIM:614879	PEX7	5191	HP:0000007	Autosomal recessive inheritance
OMIM:614879	PEX7	5191	HP:0000518	Cataract
OMIM:614879	PEX7	5191	HP:0000407	Sensorineural hearing impairment
ORPHANET:90349	FBLN5	10516	HP:0100750	Atelectasis
ORPHANET:90349	FBLN5	10516	HP:0001382	Joint hypermobility
ORPHANET:90349	FBLN5	10516	HP:0002645	Wormian bones
ORPHANET:90349	FBLN5	10516	HP:0005214	Intestinal obstruction
ORPHANET:90349	FBLN5	10516	HP:0000293	Full cheeks
ORPHANET:90349	FBLN5	10516	HP:0002757	Recurrent fractures
ORPHANET:90349	FBLN5	10516	HP:0000973	Cutis laxa
ORPHANET:90349	FBLN5	10516	HP:0000076	Vesicoureteral reflux
ORPHANET:90349	FBLN5	10516	HP:0004349	Reduced bone mineral density
ORPHANET:90349	FBLN5	10516	HP:0000015	Bladder diverticulum
ORPHANET:90349	FBLN5	10516	HP:0002097	Emphysema
ORPHANET:90349	FBLN5	10516	HP:0007495	Prematurely aged appearance
ORPHANET:90349	FBLN5	10516	HP:0002093	Respiratory insufficiency
ORPHANET:90349	FBLN5	10516	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:90349	FBLN5	10516	HP:0005111	Dilatation of the ascending aorta
ORPHANET:90349	FBLN5	10516	HP:0100545	Arterial stenosis
ORPHANET:90349	FBLN5	10516	HP:0004299	Hernia of the abdominal wall
ORPHANET:90349	FBLN5	10516	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:90349	FBLN5	10516	HP:0000821	Hypothyroidism
ORPHANET:90349	FBLN5	10516	HP:0005222	Bowel diverticulosis
ORPHANET:90349	FBLN5	10516	HP:0011675	Arrhythmia
ORPHANET:90349	FBLN5	10516	HP:0001635	Congestive heart failure
ORPHANET:90349	FBLN5	10516	HP:0000508	Ptosis
ORPHANET:90349	FBLN5	10516	HP:0001166	Arachnodactyly
ORPHANET:90349	FBLN5	10516	HP:0000010	Recurrent urinary tract infections
ORPHANET:90349	FBLN5	10516	HP:0002617	Aneurysm
ORPHANET:90349	EFEMP2	30008	HP:0100750	Atelectasis
ORPHANET:90349	EFEMP2	30008	HP:0001382	Joint hypermobility
ORPHANET:90349	EFEMP2	30008	HP:0002645	Wormian bones
ORPHANET:90349	EFEMP2	30008	HP:0005214	Intestinal obstruction
ORPHANET:90349	EFEMP2	30008	HP:0000293	Full cheeks
ORPHANET:90349	EFEMP2	30008	HP:0002757	Recurrent fractures
ORPHANET:90349	EFEMP2	30008	HP:0000973	Cutis laxa
ORPHANET:90349	EFEMP2	30008	HP:0000076	Vesicoureteral reflux
ORPHANET:90349	EFEMP2	30008	HP:0004349	Reduced bone mineral density
ORPHANET:90349	EFEMP2	30008	HP:0000015	Bladder diverticulum
ORPHANET:90349	EFEMP2	30008	HP:0002097	Emphysema
ORPHANET:90349	EFEMP2	30008	HP:0007495	Prematurely aged appearance
ORPHANET:90349	EFEMP2	30008	HP:0002093	Respiratory insufficiency
ORPHANET:90349	EFEMP2	30008	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:90349	EFEMP2	30008	HP:0005111	Dilatation of the ascending aorta
ORPHANET:90349	EFEMP2	30008	HP:0100545	Arterial stenosis
ORPHANET:90349	EFEMP2	30008	HP:0004299	Hernia of the abdominal wall
ORPHANET:90349	EFEMP2	30008	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:90349	EFEMP2	30008	HP:0000821	Hypothyroidism
ORPHANET:90349	EFEMP2	30008	HP:0005222	Bowel diverticulosis
ORPHANET:90349	EFEMP2	30008	HP:0011675	Arrhythmia
ORPHANET:90349	EFEMP2	30008	HP:0001635	Congestive heart failure
ORPHANET:90349	EFEMP2	30008	HP:0000508	Ptosis
ORPHANET:90349	EFEMP2	30008	HP:0001166	Arachnodactyly
ORPHANET:90349	EFEMP2	30008	HP:0000010	Recurrent urinary tract infections
ORPHANET:90349	EFEMP2	30008	HP:0002617	Aneurysm
OMIM:239500	PRODH	5625	HP:0000007	Autosomal recessive inheritance
OMIM:239500	PRODH	5625	HP:0000718	Aggressive behavior
OMIM:239500	PRODH	5625	HP:0000752	Hyperactivity
OMIM:239500	PRODH	5625	HP:0001250	Seizures
OMIM:239500	PRODH	5625	HP:0000093	Proteinuria
OMIM:239500	PRODH	5625	HP:0001249	Intellectual disability
OMIM:239500	PRODH	5625	HP:0001263	Global developmental delay
OMIM:239500	PRODH	5625	HP:0002133	Status epilepticus
OMIM:239500	PRODH	5625	HP:0000112	Nephropathy
OMIM:239500	PRODH	5625	HP:0003355	Aminoaciduria
OMIM:239500	PRODH	5625	HP:0002353	EEG abnormality
OMIM:239500	PRODH	5625	HP:0000733	Stereotypic behavior
OMIM:239500	PRODH	5625	HP:0003812	Phenotypic variability
OMIM:239500	PRODH	5625	HP:0001252	Muscular hypotonia
OMIM:239500	PRODH	5625	HP:0003108	Hyperglycinuria
OMIM:239500	PRODH	5625	HP:0003137	Prolinuria
OMIM:613070	TRMU	55687	HP:0000952	Jaundice
OMIM:613070	TRMU	55687	HP:0003128	Lactic acidosis
OMIM:613070	TRMU	55687	HP:0002240	Hepatomegaly
OMIM:613070	TRMU	55687	HP:0002904	Hyperbilirubinemia
OMIM:613070	TRMU	55687	HP:0008872	Feeding difficulties in infancy
OMIM:613070	TRMU	55687	HP:0000007	Autosomal recessive inheritance
OMIM:613070	TRMU	55687	HP:0001252	Muscular hypotonia
OMIM:613070	TRMU	55687	HP:0003256	Abnormality of the coagulation cascade
OMIM:613070	TRMU	55687	HP:0002910	Elevated hepatic transaminases
OMIM:613070	TRMU	55687	HP:0002151	Increased serum lactate
OMIM:613070	TRMU	55687	HP:0002013	Vomiting
OMIM:613070	TRMU	55687	HP:0003270	Abdominal distention
OMIM:615267	PROK2	60675	HP:0000135	Hypogonadism
OMIM:615267	PROK2	60675	HP:0000164	Abnormality of the teeth
OMIM:615267	PROK2	60675	HP:0000365	Hearing impairment
OMIM:615267	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:615267	PROK2	60675	HP:0000938	Osteopenia
OMIM:615267	PROK2	60675	HP:0000939	Osteoporosis
OMIM:615267	PROK2	60675	HP:0000458	Anosmia
OMIM:615267	PROKR2	128674	HP:0000135	Hypogonadism
OMIM:615267	PROKR2	128674	HP:0000164	Abnormality of the teeth
OMIM:615267	PROKR2	128674	HP:0000365	Hearing impairment
OMIM:615267	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:615267	PROKR2	128674	HP:0000938	Osteopenia
OMIM:615267	PROKR2	128674	HP:0000939	Osteoporosis
OMIM:615267	PROKR2	128674	HP:0000458	Anosmia
OMIM:615267	SEMA3A	10371	HP:0000135	Hypogonadism
OMIM:615267	SEMA3A	10371	HP:0000164	Abnormality of the teeth
OMIM:615267	SEMA3A	10371	HP:0000365	Hearing impairment
OMIM:615267	SEMA3A	10371	HP:0000006	Autosomal dominant inheritance
OMIM:615267	SEMA3A	10371	HP:0000938	Osteopenia
OMIM:615267	SEMA3A	10371	HP:0000939	Osteoporosis
OMIM:615267	SEMA3A	10371	HP:0000458	Anosmia
OMIM:615267	IL17RD	54756	HP:0000135	Hypogonadism
OMIM:615267	IL17RD	54756	HP:0000164	Abnormality of the teeth
OMIM:615267	IL17RD	54756	HP:0000365	Hearing impairment
OMIM:615267	IL17RD	54756	HP:0000006	Autosomal dominant inheritance
OMIM:615267	IL17RD	54756	HP:0000938	Osteopenia
OMIM:615267	IL17RD	54756	HP:0000939	Osteoporosis
OMIM:615267	IL17RD	54756	HP:0000458	Anosmia
OMIM:615267	WDR11	55717	HP:0000135	Hypogonadism
OMIM:615267	WDR11	55717	HP:0000164	Abnormality of the teeth
OMIM:615267	WDR11	55717	HP:0000365	Hearing impairment
OMIM:615267	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:615267	WDR11	55717	HP:0000938	Osteopenia
OMIM:615267	WDR11	55717	HP:0000939	Osteoporosis
OMIM:615267	WDR11	55717	HP:0000458	Anosmia
OMIM:615267	SOX10	6663	HP:0000135	Hypogonadism
OMIM:615267	SOX10	6663	HP:0000164	Abnormality of the teeth
OMIM:615267	SOX10	6663	HP:0000365	Hearing impairment
OMIM:615267	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:615267	SOX10	6663	HP:0000938	Osteopenia
OMIM:615267	SOX10	6663	HP:0000939	Osteoporosis
OMIM:615267	SOX10	6663	HP:0000458	Anosmia
OMIM:615267	FEZF1	389549	HP:0000135	Hypogonadism
OMIM:615267	FEZF1	389549	HP:0000164	Abnormality of the teeth
OMIM:615267	FEZF1	389549	HP:0000365	Hearing impairment
OMIM:615267	FEZF1	389549	HP:0000006	Autosomal dominant inheritance
OMIM:615267	FEZF1	389549	HP:0000938	Osteopenia
OMIM:615267	FEZF1	389549	HP:0000939	Osteoporosis
OMIM:615267	FEZF1	389549	HP:0000458	Anosmia
OMIM:615267	FGF8	2253	HP:0000135	Hypogonadism
OMIM:615267	FGF8	2253	HP:0000164	Abnormality of the teeth
OMIM:615267	FGF8	2253	HP:0000365	Hearing impairment
OMIM:615267	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:615267	FGF8	2253	HP:0000938	Osteopenia
OMIM:615267	FGF8	2253	HP:0000939	Osteoporosis
OMIM:615267	FGF8	2253	HP:0000458	Anosmia
OMIM:615267	ANOS1	3730	HP:0000135	Hypogonadism
OMIM:615267	ANOS1	3730	HP:0000164	Abnormality of the teeth
OMIM:615267	ANOS1	3730	HP:0000365	Hearing impairment
OMIM:615267	ANOS1	3730	HP:0000006	Autosomal dominant inheritance
OMIM:615267	ANOS1	3730	HP:0000938	Osteopenia
OMIM:615267	ANOS1	3730	HP:0000939	Osteoporosis
OMIM:615267	ANOS1	3730	HP:0000458	Anosmia
OMIM:615267	HS6ST1	9394	HP:0000135	Hypogonadism
OMIM:615267	HS6ST1	9394	HP:0000164	Abnormality of the teeth
OMIM:615267	HS6ST1	9394	HP:0000365	Hearing impairment
OMIM:615267	HS6ST1	9394	HP:0000006	Autosomal dominant inheritance
OMIM:615267	HS6ST1	9394	HP:0000938	Osteopenia
OMIM:615267	HS6ST1	9394	HP:0000939	Osteoporosis
OMIM:615267	HS6ST1	9394	HP:0000458	Anosmia
OMIM:615267	CHD7	55636	HP:0000135	Hypogonadism
OMIM:615267	CHD7	55636	HP:0000164	Abnormality of the teeth
OMIM:615267	CHD7	55636	HP:0000365	Hearing impairment
OMIM:615267	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:615267	CHD7	55636	HP:0000938	Osteopenia
OMIM:615267	CHD7	55636	HP:0000939	Osteoporosis
OMIM:615267	CHD7	55636	HP:0000458	Anosmia
OMIM:615267	FGFR1	2260	HP:0000135	Hypogonadism
OMIM:615267	FGFR1	2260	HP:0000164	Abnormality of the teeth
OMIM:615267	FGFR1	2260	HP:0000365	Hearing impairment
OMIM:615267	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:615267	FGFR1	2260	HP:0000938	Osteopenia
OMIM:615267	FGFR1	2260	HP:0000939	Osteoporosis
OMIM:615267	FGFR1	2260	HP:0000458	Anosmia
OMIM:615267	HESX1	8820	HP:0000135	Hypogonadism
OMIM:615267	HESX1	8820	HP:0000164	Abnormality of the teeth
OMIM:615267	HESX1	8820	HP:0000365	Hearing impairment
OMIM:615267	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:615267	HESX1	8820	HP:0000938	Osteopenia
OMIM:615267	HESX1	8820	HP:0000939	Osteoporosis
OMIM:615267	HESX1	8820	HP:0000458	Anosmia
OMIM:615267	TACR3	6870	HP:0000135	Hypogonadism
OMIM:615267	TACR3	6870	HP:0000164	Abnormality of the teeth
OMIM:615267	TACR3	6870	HP:0000365	Hearing impairment
OMIM:615267	TACR3	6870	HP:0000006	Autosomal dominant inheritance
OMIM:615267	TACR3	6870	HP:0000938	Osteopenia
OMIM:615267	TACR3	6870	HP:0000939	Osteoporosis
OMIM:615267	TACR3	6870	HP:0000458	Anosmia
OMIM:615267	FGF17	8822	HP:0000135	Hypogonadism
OMIM:615267	FGF17	8822	HP:0000164	Abnormality of the teeth
OMIM:615267	FGF17	8822	HP:0000365	Hearing impairment
OMIM:615267	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:615267	FGF17	8822	HP:0000938	Osteopenia
OMIM:615267	FGF17	8822	HP:0000939	Osteoporosis
OMIM:615267	FGF17	8822	HP:0000458	Anosmia
OMIM:615267	FLRT3	23767	HP:0000135	Hypogonadism
OMIM:615267	FLRT3	23767	HP:0000164	Abnormality of the teeth
OMIM:615267	FLRT3	23767	HP:0000365	Hearing impairment
OMIM:615267	FLRT3	23767	HP:0000006	Autosomal dominant inheritance
OMIM:615267	FLRT3	23767	HP:0000938	Osteopenia
OMIM:615267	FLRT3	23767	HP:0000939	Osteoporosis
OMIM:615267	FLRT3	23767	HP:0000458	Anosmia
OMIM:615267	DUSP6	1848	HP:0000135	Hypogonadism
OMIM:615267	DUSP6	1848	HP:0000164	Abnormality of the teeth
OMIM:615267	DUSP6	1848	HP:0000365	Hearing impairment
OMIM:615267	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:615267	DUSP6	1848	HP:0000938	Osteopenia
OMIM:615267	DUSP6	1848	HP:0000939	Osteoporosis
OMIM:615267	DUSP6	1848	HP:0000458	Anosmia
OMIM:615267	SPRY4	81848	HP:0000135	Hypogonadism
OMIM:615267	SPRY4	81848	HP:0000164	Abnormality of the teeth
OMIM:615267	SPRY4	81848	HP:0000365	Hearing impairment
OMIM:615267	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:615267	SPRY4	81848	HP:0000938	Osteopenia
OMIM:615267	SPRY4	81848	HP:0000939	Osteoporosis
OMIM:615267	SPRY4	81848	HP:0000458	Anosmia
OMIM:615267	KISS1R	84634	HP:0000135	Hypogonadism
OMIM:615267	KISS1R	84634	HP:0000164	Abnormality of the teeth
OMIM:615267	KISS1R	84634	HP:0000365	Hearing impairment
OMIM:615267	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:615267	KISS1R	84634	HP:0000938	Osteopenia
OMIM:615267	KISS1R	84634	HP:0000939	Osteoporosis
OMIM:615267	KISS1R	84634	HP:0000458	Anosmia
OMIM:615267	NSMF	26012	HP:0000135	Hypogonadism
OMIM:615267	NSMF	26012	HP:0000164	Abnormality of the teeth
OMIM:615267	NSMF	26012	HP:0000365	Hearing impairment
OMIM:615267	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:615267	NSMF	26012	HP:0000938	Osteopenia
OMIM:615267	NSMF	26012	HP:0000939	Osteoporosis
OMIM:615267	NSMF	26012	HP:0000458	Anosmia
OMIM:613861	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613861	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613861	RLBP1	6017	HP:0011505	Cystoid macular edema
OMIM:613861	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613861	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613861	SPATA7	55812	HP:0011505	Cystoid macular edema
OMIM:613861	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613861	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613861	ARL6	84100	HP:0011505	Cystoid macular edema
OMIM:613861	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613861	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613861	CERKL	375298	HP:0011505	Cystoid macular edema
OMIM:613861	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613861	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613861	PRPF31	26121	HP:0011505	Cystoid macular edema
OMIM:613861	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613861	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613861	TTC8	123016	HP:0011505	Cystoid macular edema
OMIM:613861	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613861	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613861	PROM1	8842	HP:0011505	Cystoid macular edema
OMIM:613861	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613861	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613861	LRAT	9227	HP:0011505	Cystoid macular edema
OMIM:613861	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613861	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613861	IFT140	9742	HP:0011505	Cystoid macular edema
OMIM:613861	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613861	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613861	BEST1	7439	HP:0011505	Cystoid macular edema
OMIM:613861	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613861	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613861	NEK2	4751	HP:0011505	Cystoid macular edema
OMIM:613861	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613861	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613861	ARL2BP	23568	HP:0011505	Cystoid macular edema
OMIM:613861	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613861	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613861	NR2E3	10002	HP:0011505	Cystoid macular edema
OMIM:613861	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613861	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613861	EYS	346007	HP:0011505	Cystoid macular edema
OMIM:613861	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613861	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613861	MAK	4117	HP:0011505	Cystoid macular edema
OMIM:613861	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613861	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613861	SAG	6295	HP:0011505	Cystoid macular edema
OMIM:613861	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613861	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613861	ABCA4	24	HP:0011505	Cystoid macular edema
OMIM:613861	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613861	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613861	PDE6A	5145	HP:0011505	Cystoid macular edema
OMIM:613861	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613861	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613861	PDE6G	5148	HP:0011505	Cystoid macular edema
OMIM:613861	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613861	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613861	IMPDH1	3614	HP:0011505	Cystoid macular edema
OMIM:613861	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613861	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613861	OFD1	8481	HP:0011505	Cystoid macular edema
OMIM:613861	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613861	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613861	GUCA1B	2979	HP:0011505	Cystoid macular edema
OMIM:613861	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613861	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613861	NRL	4901	HP:0011505	Cystoid macular edema
OMIM:613861	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613861	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613861	PDE6B	5158	HP:0011505	Cystoid macular edema
OMIM:613861	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613861	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613861	KLHL7	55975	HP:0011505	Cystoid macular edema
OMIM:613861	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613861	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613861	PRPF4	9128	HP:0011505	Cystoid macular edema
OMIM:613861	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613861	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613861	PRPF3	9129	HP:0011505	Cystoid macular edema
OMIM:613861	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613861	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613861	FAM161A	84140	HP:0011505	Cystoid macular edema
OMIM:613861	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613861	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613861	IFT172	26160	HP:0011505	Cystoid macular edema
OMIM:613861	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613861	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613861	KIZ	55857	HP:0011505	Cystoid macular edema
OMIM:613861	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613861	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613861	CDHR1	92211	HP:0011505	Cystoid macular edema
OMIM:613861	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613861	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613861	ZNF408	79797	HP:0011505	Cystoid macular edema
OMIM:613861	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613861	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613861	RBP3	5949	HP:0011505	Cystoid macular edema
OMIM:613861	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613861	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613861	HGSNAT	138050	HP:0011505	Cystoid macular edema
OMIM:613861	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613861	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613861	FSCN2	25794	HP:0011505	Cystoid macular edema
OMIM:613861	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613861	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613861	PRCD	768206	HP:0011505	Cystoid macular edema
OMIM:613861	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613861	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613861	BBS2	583	HP:0011505	Cystoid macular edema
OMIM:613861	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613861	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613861	RDH12	145226	HP:0011505	Cystoid macular edema
OMIM:613861	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613861	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613861	PRPH2	5961	HP:0011505	Cystoid macular edema
OMIM:613861	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613861	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613861	DHDDS	79947	HP:0011505	Cystoid macular edema
OMIM:613861	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613861	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613861	ROM1	6094	HP:0011505	Cystoid macular edema
OMIM:613861	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613861	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613861	C2ORF71	388939	HP:0011505	Cystoid macular edema
OMIM:613861	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613861	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613861	RP9	6100	HP:0011505	Cystoid macular edema
OMIM:613861	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613861	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613861	PRPF6	24148	HP:0011505	Cystoid macular edema
OMIM:613861	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613861	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613861	RP1	6101	HP:0011505	Cystoid macular edema
OMIM:613861	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613861	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613861	RP2	6102	HP:0011505	Cystoid macular edema
OMIM:613861	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613861	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613861	RPGR	6103	HP:0011505	Cystoid macular edema
OMIM:613861	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613861	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613861	SEMA4A	64218	HP:0011505	Cystoid macular edema
OMIM:613861	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613861	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613861	C8ORF37	157657	HP:0011505	Cystoid macular edema
OMIM:613861	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613861	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613861	IDH3B	3420	HP:0011505	Cystoid macular edema
OMIM:613861	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613861	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613861	MERTK	10461	HP:0011505	Cystoid macular edema
OMIM:613861	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613861	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613861	PRPF8	10594	HP:0011505	Cystoid macular edema
OMIM:613861	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613861	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613861	TOPORS	10210	HP:0011505	Cystoid macular edema
OMIM:613861	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613861	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613861	USH2A	7399	HP:0011505	Cystoid macular edema
OMIM:613861	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613861	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613861	RPE65	6121	HP:0011505	Cystoid macular edema
OMIM:613861	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613861	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613861	CLRN1	7401	HP:0011505	Cystoid macular edema
OMIM:613861	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613861	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613861	CNGB1	1258	HP:0011505	Cystoid macular edema
OMIM:613861	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613861	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613861	RGR	5995	HP:0011505	Cystoid macular edema
OMIM:613861	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613861	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613861	CNGA1	1259	HP:0011505	Cystoid macular edema
OMIM:613861	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613861	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613861	TUB	7275	HP:0011505	Cystoid macular edema
OMIM:613861	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613861	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613861	SNRNP200	23020	HP:0011505	Cystoid macular edema
OMIM:613861	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613861	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613861	SLC7A14	57709	HP:0011505	Cystoid macular edema
OMIM:613861	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613861	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613861	TULP1	7287	HP:0011505	Cystoid macular edema
OMIM:613861	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613861	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613861	RHO	6010	HP:0011505	Cystoid macular edema
OMIM:613861	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613861	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613861	CA4	762	HP:0011505	Cystoid macular edema
OMIM:613861	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613861	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613861	CRB1	23418	HP:0011505	Cystoid macular edema
OMIM:613861	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613861	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613861	IMPG2	50939	HP:0011505	Cystoid macular edema
OMIM:613861	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613861	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613861	ZNF513	130557	HP:0011505	Cystoid macular edema
OMIM:613861	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613861	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613861	CRX	1406	HP:0011505	Cystoid macular edema
OMIM:614702	MTO1	25821	HP:0003577	Congenital onset
OMIM:614702	MTO1	25821	HP:0001257	Spasticity
OMIM:614702	MTO1	25821	HP:0001252	Muscular hypotonia
OMIM:614702	MTO1	25821	HP:0001263	Global developmental delay
OMIM:614702	MTO1	25821	HP:0001332	Dystonia
OMIM:614702	MTO1	25821	HP:0100543	Cognitive impairment
OMIM:614702	MTO1	25821	HP:0001250	Seizures
OMIM:614702	MTO1	25821	HP:0002151	Increased serum lactate
OMIM:614702	MTO1	25821	HP:0011968	Feeding difficulties
OMIM:614702	MTO1	25821	HP:0001942	Metabolic acidosis
OMIM:614702	MTO1	25821	HP:0002465	Poor speech
OMIM:614702	MTO1	25821	HP:0003128	Lactic acidosis
OMIM:614702	MTO1	25821	HP:0001518	Small for gestational age
OMIM:614702	MTO1	25821	HP:0011675	Arrhythmia
OMIM:614702	MTO1	25821	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614702	MTO1	25821	HP:0000648	Optic atrophy
OMIM:614702	MTO1	25821	HP:0001508	Failure to thrive
OMIM:614702	MTO1	25821	HP:0000007	Autosomal recessive inheritance
OMIM:614702	MTO1	25821	HP:0001943	Hypoglycemia
OMIM:613686	MESP2	145873	HP:0000007	Autosomal recessive inheritance
OMIM:613686	MESP2	145873	HP:0003298	Spina bifida occulta
OMIM:613686	MESP2	145873	HP:0001696	Situs inversus totalis
OMIM:613686	MESP2	145873	HP:0002937	Hemivertebrae
OMIM:613686	MESP2	145873	HP:0010306	Short thorax
OMIM:613686	MESP2	145873	HP:0004322	Short stature
OMIM:613686	MESP2	145873	HP:0000921	Missing ribs
OMIM:613686	MESP2	145873	HP:0003310	Abnormality of the odontoid process
OMIM:613686	LFNG	3955	HP:0000007	Autosomal recessive inheritance
OMIM:613686	LFNG	3955	HP:0003298	Spina bifida occulta
OMIM:613686	LFNG	3955	HP:0001696	Situs inversus totalis
OMIM:613686	LFNG	3955	HP:0002937	Hemivertebrae
OMIM:613686	LFNG	3955	HP:0010306	Short thorax
OMIM:613686	LFNG	3955	HP:0004322	Short stature
OMIM:613686	LFNG	3955	HP:0000921	Missing ribs
OMIM:613686	LFNG	3955	HP:0003310	Abnormality of the odontoid process
OMIM:613686	HES7	84667	HP:0000007	Autosomal recessive inheritance
OMIM:613686	HES7	84667	HP:0003298	Spina bifida occulta
OMIM:613686	HES7	84667	HP:0001696	Situs inversus totalis
OMIM:613686	HES7	84667	HP:0002937	Hemivertebrae
OMIM:613686	HES7	84667	HP:0010306	Short thorax
OMIM:613686	HES7	84667	HP:0004322	Short stature
OMIM:613686	HES7	84667	HP:0000921	Missing ribs
OMIM:613686	HES7	84667	HP:0003310	Abnormality of the odontoid process
OMIM:613686	DLL3	10683	HP:0000007	Autosomal recessive inheritance
OMIM:613686	DLL3	10683	HP:0003298	Spina bifida occulta
OMIM:613686	DLL3	10683	HP:0001696	Situs inversus totalis
OMIM:613686	DLL3	10683	HP:0002937	Hemivertebrae
OMIM:613686	DLL3	10683	HP:0010306	Short thorax
OMIM:613686	DLL3	10683	HP:0004322	Short stature
OMIM:613686	DLL3	10683	HP:0000921	Missing ribs
OMIM:613686	DLL3	10683	HP:0003310	Abnormality of the odontoid process
OMIM:613686	RIPPLY2	134701	HP:0000007	Autosomal recessive inheritance
OMIM:613686	RIPPLY2	134701	HP:0003298	Spina bifida occulta
OMIM:613686	RIPPLY2	134701	HP:0001696	Situs inversus totalis
OMIM:613686	RIPPLY2	134701	HP:0002937	Hemivertebrae
OMIM:613686	RIPPLY2	134701	HP:0010306	Short thorax
OMIM:613686	RIPPLY2	134701	HP:0004322	Short stature
OMIM:613686	RIPPLY2	134701	HP:0000921	Missing ribs
OMIM:613686	RIPPLY2	134701	HP:0003310	Abnormality of the odontoid process
OMIM:611307	ANO5	203859	HP:0003547	Shoulder girdle muscle weakness
OMIM:611307	ANO5	203859	HP:0003458	EMG: myopathic abnormalities
OMIM:611307	ANO5	203859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611307	ANO5	203859	HP:0003560	Muscular dystrophy
OMIM:611307	ANO5	203859	HP:0003676	Progressive
OMIM:611307	ANO5	203859	HP:0003828	Variable expressivity
OMIM:611307	ANO5	203859	HP:0003749	Pelvic girdle muscle weakness
OMIM:611307	ANO5	203859	HP:0003701	Proximal muscle weakness
OMIM:611307	ANO5	203859	HP:0008981	Calf muscle hypertrophy
OMIM:611307	ANO5	203859	HP:0000007	Autosomal recessive inheritance
OMIM:611307	ANO5	203859	HP:0010628	Facial palsy
OMIM:611307	ANO5	203859	HP:0003326	Myalgia
OMIM:112500	GDF5	8200	HP:0001156	Brachydactyly syndrome
OMIM:112500	GDF5	8200	HP:0004209	Clinodactyly of the 5th finger
OMIM:112500	GDF5	8200	HP:0001032	Absent distal interphalangeal creases
OMIM:112500	GDF5	8200	HP:0004322	Short stature
OMIM:112500	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:112500	GDF5	8200	HP:0001425	Heterogeneous
OMIM:112500	GDF5	8200	HP:0010049	Short metacarpal
OMIM:112500	GDF5	8200	HP:0009882	Short distal phalanx of finger
OMIM:112500	GDF5	8200	HP:0004279	Short palm
OMIM:112500	IHH	3549	HP:0001156	Brachydactyly syndrome
OMIM:112500	IHH	3549	HP:0004209	Clinodactyly of the 5th finger
OMIM:112500	IHH	3549	HP:0001032	Absent distal interphalangeal creases
OMIM:112500	IHH	3549	HP:0004322	Short stature
OMIM:112500	IHH	3549	HP:0000006	Autosomal dominant inheritance
OMIM:112500	IHH	3549	HP:0001425	Heterogeneous
OMIM:112500	IHH	3549	HP:0010049	Short metacarpal
OMIM:112500	IHH	3549	HP:0009882	Short distal phalanx of finger
OMIM:112500	IHH	3549	HP:0004279	Short palm
OMIM:258450	POLG	5428	HP:0001618	Dysphonia
OMIM:258450	POLG	5428	HP:0000505	Visual impairment
OMIM:258450	POLG	5428	HP:0000712	Emotional lability
OMIM:258450	POLG	5428	HP:0002070	Limb ataxia
OMIM:258450	POLG	5428	HP:0001761	Pes cavus
OMIM:258450	POLG	5428	HP:0010628	Facial palsy
OMIM:258450	POLG	5428	HP:0001284	Areflexia
OMIM:258450	POLG	5428	HP:0000716	Depression
OMIM:258450	POLG	5428	HP:0002922	Increased CSF protein
OMIM:258450	POLG	5428	HP:0000648	Optic atrophy
OMIM:258450	POLG	5428	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:258450	POLG	5428	HP:0003546	Exercise intolerance
OMIM:258450	POLG	5428	HP:0000508	Ptosis
OMIM:258450	POLG	5428	HP:0001260	Dysarthria
OMIM:258450	POLG	5428	HP:0003812	Phenotypic variability
OMIM:258450	POLG	5428	HP:0003236	Elevated serum creatine phosphokinase
OMIM:258450	POLG	5428	HP:0000007	Autosomal recessive inheritance
OMIM:258450	POLG	5428	HP:0001638	Cardiomyopathy
OMIM:258450	POLG	5428	HP:0002015	Dysphagia
OMIM:258450	POLG	5428	HP:0003458	EMG: myopathic abnormalities
OMIM:258450	POLG	5428	HP:0002066	Gait ataxia
OMIM:258450	POLG	5428	HP:0001265	Hyporeflexia
OMIM:258450	POLG	5428	HP:0001653	Mitral regurgitation
OMIM:258450	POLG	5428	HP:0002460	Distal muscle weakness
OMIM:258450	POLG	5428	HP:0002063	Rigidity
OMIM:258450	POLG	5428	HP:0003581	Adult onset
OMIM:258450	POLG	5428	HP:0003701	Proximal muscle weakness
OMIM:258450	POLG	5428	HP:0001634	Mitral valve prolapse
OMIM:258450	POLG	5428	HP:0002067	Bradykinesia
OMIM:258450	POLG	5428	HP:0007641	Dyschromatopsia
OMIM:258450	POLG	5428	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:258450	POLG	5428	HP:0003376	Steppage gait
OMIM:258450	POLG	5428	HP:0001300	Parkinsonism
OMIM:258450	TK2	7084	HP:0001618	Dysphonia
OMIM:258450	TK2	7084	HP:0000505	Visual impairment
OMIM:258450	TK2	7084	HP:0000712	Emotional lability
OMIM:258450	TK2	7084	HP:0002070	Limb ataxia
OMIM:258450	TK2	7084	HP:0001761	Pes cavus
OMIM:258450	TK2	7084	HP:0010628	Facial palsy
OMIM:258450	TK2	7084	HP:0001284	Areflexia
OMIM:258450	TK2	7084	HP:0000716	Depression
OMIM:258450	TK2	7084	HP:0002922	Increased CSF protein
OMIM:258450	TK2	7084	HP:0000648	Optic atrophy
OMIM:258450	TK2	7084	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:258450	TK2	7084	HP:0003546	Exercise intolerance
OMIM:258450	TK2	7084	HP:0000508	Ptosis
OMIM:258450	TK2	7084	HP:0001260	Dysarthria
OMIM:258450	TK2	7084	HP:0003812	Phenotypic variability
OMIM:258450	TK2	7084	HP:0003236	Elevated serum creatine phosphokinase
OMIM:258450	TK2	7084	HP:0000007	Autosomal recessive inheritance
OMIM:258450	TK2	7084	HP:0001638	Cardiomyopathy
OMIM:258450	TK2	7084	HP:0002015	Dysphagia
OMIM:258450	TK2	7084	HP:0003458	EMG: myopathic abnormalities
OMIM:258450	TK2	7084	HP:0002066	Gait ataxia
OMIM:258450	TK2	7084	HP:0001265	Hyporeflexia
OMIM:258450	TK2	7084	HP:0001653	Mitral regurgitation
OMIM:258450	TK2	7084	HP:0002460	Distal muscle weakness
OMIM:258450	TK2	7084	HP:0002063	Rigidity
OMIM:258450	TK2	7084	HP:0003581	Adult onset
OMIM:258450	TK2	7084	HP:0003701	Proximal muscle weakness
OMIM:258450	TK2	7084	HP:0001634	Mitral valve prolapse
OMIM:258450	TK2	7084	HP:0002067	Bradykinesia
OMIM:258450	TK2	7084	HP:0007641	Dyschromatopsia
OMIM:258450	TK2	7084	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:258450	TK2	7084	HP:0003376	Steppage gait
OMIM:258450	TK2	7084	HP:0001300	Parkinsonism
OMIM:614196	PTPRO	5800	HP:0000007	Autosomal recessive inheritance
OMIM:614196	PTPRO	5800	HP:0000093	Proteinuria
OMIM:614196	PTPRO	5800	HP:0003073	Hypoalbuminemia
OMIM:614196	PTPRO	5800	HP:0003828	Variable expressivity
OMIM:614196	PTPRO	5800	HP:0000097	Focal segmental glomerulosclerosis
OMIM:614196	PTPRO	5800	HP:0000100	Nephrotic syndrome
OMIM:614196	PTPRO	5800	HP:0000969	Edema
OMIM:613118	SERPINC1	462	HP:0002204	Pulmonary embolism
OMIM:613118	SERPINC1	462	HP:0000007	Autosomal recessive inheritance
OMIM:613118	SERPINC1	462	HP:0000006	Autosomal dominant inheritance
OMIM:244200	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:244200	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	PROKR2	128674	HP:0000054	Micropenis
OMIM:244200	PROKR2	128674	HP:0001250	Seizures
OMIM:244200	PROKR2	128674	HP:0000007	Autosomal recessive inheritance
OMIM:244200	PROKR2	128674	HP:0000204	Cleft upper lip
OMIM:244200	PROKR2	128674	HP:0000601	Hypotelorism
OMIM:244200	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:244200	PROKR2	128674	HP:0000175	Cleft palate
OMIM:244200	PROKR2	128674	HP:0000122	Unilateral renal agenesis
OMIM:244200	PROKR2	128674	HP:0000365	Hearing impairment
OMIM:244200	PROKR2	128674	HP:0000458	Anosmia
OMIM:244200	PROKR2	128674	HP:0000767	Pectus excavatum
OMIM:244200	PROKR2	128674	HP:0001763	Pes planus
OMIM:244200	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:244200	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	PROK2	60675	HP:0000054	Micropenis
OMIM:244200	PROK2	60675	HP:0001250	Seizures
OMIM:244200	PROK2	60675	HP:0000007	Autosomal recessive inheritance
OMIM:244200	PROK2	60675	HP:0000204	Cleft upper lip
OMIM:244200	PROK2	60675	HP:0000601	Hypotelorism
OMIM:244200	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:244200	PROK2	60675	HP:0000175	Cleft palate
OMIM:244200	PROK2	60675	HP:0000122	Unilateral renal agenesis
OMIM:244200	PROK2	60675	HP:0000365	Hearing impairment
OMIM:244200	PROK2	60675	HP:0000458	Anosmia
OMIM:244200	PROK2	60675	HP:0000767	Pectus excavatum
OMIM:244200	PROK2	60675	HP:0001763	Pes planus
OMIM:244200	SEMA3A	10371	HP:0000028	Cryptorchidism
OMIM:244200	SEMA3A	10371	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	SEMA3A	10371	HP:0000054	Micropenis
OMIM:244200	SEMA3A	10371	HP:0001250	Seizures
OMIM:244200	SEMA3A	10371	HP:0000007	Autosomal recessive inheritance
OMIM:244200	SEMA3A	10371	HP:0000204	Cleft upper lip
OMIM:244200	SEMA3A	10371	HP:0000601	Hypotelorism
OMIM:244200	SEMA3A	10371	HP:0000786	Primary amenorrhea
OMIM:244200	SEMA3A	10371	HP:0000175	Cleft palate
OMIM:244200	SEMA3A	10371	HP:0000122	Unilateral renal agenesis
OMIM:244200	SEMA3A	10371	HP:0000365	Hearing impairment
OMIM:244200	SEMA3A	10371	HP:0000458	Anosmia
OMIM:244200	SEMA3A	10371	HP:0000767	Pectus excavatum
OMIM:244200	SEMA3A	10371	HP:0001763	Pes planus
OMIM:244200	IL17RD	54756	HP:0000028	Cryptorchidism
OMIM:244200	IL17RD	54756	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	IL17RD	54756	HP:0000054	Micropenis
OMIM:244200	IL17RD	54756	HP:0001250	Seizures
OMIM:244200	IL17RD	54756	HP:0000007	Autosomal recessive inheritance
OMIM:244200	IL17RD	54756	HP:0000204	Cleft upper lip
OMIM:244200	IL17RD	54756	HP:0000601	Hypotelorism
OMIM:244200	IL17RD	54756	HP:0000786	Primary amenorrhea
OMIM:244200	IL17RD	54756	HP:0000175	Cleft palate
OMIM:244200	IL17RD	54756	HP:0000122	Unilateral renal agenesis
OMIM:244200	IL17RD	54756	HP:0000365	Hearing impairment
OMIM:244200	IL17RD	54756	HP:0000458	Anosmia
OMIM:244200	IL17RD	54756	HP:0000767	Pectus excavatum
OMIM:244200	IL17RD	54756	HP:0001763	Pes planus
OMIM:244200	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:244200	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	WDR11	55717	HP:0000054	Micropenis
OMIM:244200	WDR11	55717	HP:0001250	Seizures
OMIM:244200	WDR11	55717	HP:0000007	Autosomal recessive inheritance
OMIM:244200	WDR11	55717	HP:0000204	Cleft upper lip
OMIM:244200	WDR11	55717	HP:0000601	Hypotelorism
OMIM:244200	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:244200	WDR11	55717	HP:0000175	Cleft palate
OMIM:244200	WDR11	55717	HP:0000122	Unilateral renal agenesis
OMIM:244200	WDR11	55717	HP:0000365	Hearing impairment
OMIM:244200	WDR11	55717	HP:0000458	Anosmia
OMIM:244200	WDR11	55717	HP:0000767	Pectus excavatum
OMIM:244200	WDR11	55717	HP:0001763	Pes planus
OMIM:244200	KISS1	3814	HP:0000028	Cryptorchidism
OMIM:244200	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	KISS1	3814	HP:0000054	Micropenis
OMIM:244200	KISS1	3814	HP:0001250	Seizures
OMIM:244200	KISS1	3814	HP:0000007	Autosomal recessive inheritance
OMIM:244200	KISS1	3814	HP:0000204	Cleft upper lip
OMIM:244200	KISS1	3814	HP:0000601	Hypotelorism
OMIM:244200	KISS1	3814	HP:0000786	Primary amenorrhea
OMIM:244200	KISS1	3814	HP:0000175	Cleft palate
OMIM:244200	KISS1	3814	HP:0000122	Unilateral renal agenesis
OMIM:244200	KISS1	3814	HP:0000365	Hearing impairment
OMIM:244200	KISS1	3814	HP:0000458	Anosmia
OMIM:244200	KISS1	3814	HP:0000767	Pectus excavatum
OMIM:244200	KISS1	3814	HP:0001763	Pes planus
OMIM:244200	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:244200	SOX10	6663	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	SOX10	6663	HP:0000054	Micropenis
OMIM:244200	SOX10	6663	HP:0001250	Seizures
OMIM:244200	SOX10	6663	HP:0000007	Autosomal recessive inheritance
OMIM:244200	SOX10	6663	HP:0000204	Cleft upper lip
OMIM:244200	SOX10	6663	HP:0000601	Hypotelorism
OMIM:244200	SOX10	6663	HP:0000786	Primary amenorrhea
OMIM:244200	SOX10	6663	HP:0000175	Cleft palate
OMIM:244200	SOX10	6663	HP:0000122	Unilateral renal agenesis
OMIM:244200	SOX10	6663	HP:0000365	Hearing impairment
OMIM:244200	SOX10	6663	HP:0000458	Anosmia
OMIM:244200	SOX10	6663	HP:0000767	Pectus excavatum
OMIM:244200	SOX10	6663	HP:0001763	Pes planus
OMIM:244200	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:244200	FEZF1	389549	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	FEZF1	389549	HP:0000054	Micropenis
OMIM:244200	FEZF1	389549	HP:0001250	Seizures
OMIM:244200	FEZF1	389549	HP:0000007	Autosomal recessive inheritance
OMIM:244200	FEZF1	389549	HP:0000204	Cleft upper lip
OMIM:244200	FEZF1	389549	HP:0000601	Hypotelorism
OMIM:244200	FEZF1	389549	HP:0000786	Primary amenorrhea
OMIM:244200	FEZF1	389549	HP:0000175	Cleft palate
OMIM:244200	FEZF1	389549	HP:0000122	Unilateral renal agenesis
OMIM:244200	FEZF1	389549	HP:0000365	Hearing impairment
OMIM:244200	FEZF1	389549	HP:0000458	Anosmia
OMIM:244200	FEZF1	389549	HP:0000767	Pectus excavatum
OMIM:244200	FEZF1	389549	HP:0001763	Pes planus
OMIM:244200	GNRH1	2796	HP:0000028	Cryptorchidism
OMIM:244200	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	GNRH1	2796	HP:0000054	Micropenis
OMIM:244200	GNRH1	2796	HP:0001250	Seizures
OMIM:244200	GNRH1	2796	HP:0000007	Autosomal recessive inheritance
OMIM:244200	GNRH1	2796	HP:0000204	Cleft upper lip
OMIM:244200	GNRH1	2796	HP:0000601	Hypotelorism
OMIM:244200	GNRH1	2796	HP:0000786	Primary amenorrhea
OMIM:244200	GNRH1	2796	HP:0000175	Cleft palate
OMIM:244200	GNRH1	2796	HP:0000122	Unilateral renal agenesis
OMIM:244200	GNRH1	2796	HP:0000365	Hearing impairment
OMIM:244200	GNRH1	2796	HP:0000458	Anosmia
OMIM:244200	GNRH1	2796	HP:0000767	Pectus excavatum
OMIM:244200	GNRH1	2796	HP:0001763	Pes planus
OMIM:244200	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:244200	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	FGF8	2253	HP:0000054	Micropenis
OMIM:244200	FGF8	2253	HP:0001250	Seizures
OMIM:244200	FGF8	2253	HP:0000007	Autosomal recessive inheritance
OMIM:244200	FGF8	2253	HP:0000204	Cleft upper lip
OMIM:244200	FGF8	2253	HP:0000601	Hypotelorism
OMIM:244200	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:244200	FGF8	2253	HP:0000175	Cleft palate
OMIM:244200	FGF8	2253	HP:0000122	Unilateral renal agenesis
OMIM:244200	FGF8	2253	HP:0000365	Hearing impairment
OMIM:244200	FGF8	2253	HP:0000458	Anosmia
OMIM:244200	FGF8	2253	HP:0000767	Pectus excavatum
OMIM:244200	FGF8	2253	HP:0001763	Pes planus
OMIM:244200	GNRHR	2798	HP:0000028	Cryptorchidism
OMIM:244200	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	GNRHR	2798	HP:0000054	Micropenis
OMIM:244200	GNRHR	2798	HP:0001250	Seizures
OMIM:244200	GNRHR	2798	HP:0000007	Autosomal recessive inheritance
OMIM:244200	GNRHR	2798	HP:0000204	Cleft upper lip
OMIM:244200	GNRHR	2798	HP:0000601	Hypotelorism
OMIM:244200	GNRHR	2798	HP:0000786	Primary amenorrhea
OMIM:244200	GNRHR	2798	HP:0000175	Cleft palate
OMIM:244200	GNRHR	2798	HP:0000122	Unilateral renal agenesis
OMIM:244200	GNRHR	2798	HP:0000365	Hearing impairment
OMIM:244200	GNRHR	2798	HP:0000458	Anosmia
OMIM:244200	GNRHR	2798	HP:0000767	Pectus excavatum
OMIM:244200	GNRHR	2798	HP:0001763	Pes planus
OMIM:244200	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:244200	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	ANOS1	3730	HP:0000054	Micropenis
OMIM:244200	ANOS1	3730	HP:0001250	Seizures
OMIM:244200	ANOS1	3730	HP:0000007	Autosomal recessive inheritance
OMIM:244200	ANOS1	3730	HP:0000204	Cleft upper lip
OMIM:244200	ANOS1	3730	HP:0000601	Hypotelorism
OMIM:244200	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:244200	ANOS1	3730	HP:0000175	Cleft palate
OMIM:244200	ANOS1	3730	HP:0000122	Unilateral renal agenesis
OMIM:244200	ANOS1	3730	HP:0000365	Hearing impairment
OMIM:244200	ANOS1	3730	HP:0000458	Anosmia
OMIM:244200	ANOS1	3730	HP:0000767	Pectus excavatum
OMIM:244200	ANOS1	3730	HP:0001763	Pes planus
OMIM:244200	TAC3	6866	HP:0000028	Cryptorchidism
OMIM:244200	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	TAC3	6866	HP:0000054	Micropenis
OMIM:244200	TAC3	6866	HP:0001250	Seizures
OMIM:244200	TAC3	6866	HP:0000007	Autosomal recessive inheritance
OMIM:244200	TAC3	6866	HP:0000204	Cleft upper lip
OMIM:244200	TAC3	6866	HP:0000601	Hypotelorism
OMIM:244200	TAC3	6866	HP:0000786	Primary amenorrhea
OMIM:244200	TAC3	6866	HP:0000175	Cleft palate
OMIM:244200	TAC3	6866	HP:0000122	Unilateral renal agenesis
OMIM:244200	TAC3	6866	HP:0000365	Hearing impairment
OMIM:244200	TAC3	6866	HP:0000458	Anosmia
OMIM:244200	TAC3	6866	HP:0000767	Pectus excavatum
OMIM:244200	TAC3	6866	HP:0001763	Pes planus
OMIM:244200	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:244200	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	HS6ST1	9394	HP:0000054	Micropenis
OMIM:244200	HS6ST1	9394	HP:0001250	Seizures
OMIM:244200	HS6ST1	9394	HP:0000007	Autosomal recessive inheritance
OMIM:244200	HS6ST1	9394	HP:0000204	Cleft upper lip
OMIM:244200	HS6ST1	9394	HP:0000601	Hypotelorism
OMIM:244200	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:244200	HS6ST1	9394	HP:0000175	Cleft palate
OMIM:244200	HS6ST1	9394	HP:0000122	Unilateral renal agenesis
OMIM:244200	HS6ST1	9394	HP:0000365	Hearing impairment
OMIM:244200	HS6ST1	9394	HP:0000458	Anosmia
OMIM:244200	HS6ST1	9394	HP:0000767	Pectus excavatum
OMIM:244200	HS6ST1	9394	HP:0001763	Pes planus
OMIM:244200	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:244200	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	CHD7	55636	HP:0000054	Micropenis
OMIM:244200	CHD7	55636	HP:0001250	Seizures
OMIM:244200	CHD7	55636	HP:0000007	Autosomal recessive inheritance
OMIM:244200	CHD7	55636	HP:0000204	Cleft upper lip
OMIM:244200	CHD7	55636	HP:0000601	Hypotelorism
OMIM:244200	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:244200	CHD7	55636	HP:0000175	Cleft palate
OMIM:244200	CHD7	55636	HP:0000122	Unilateral renal agenesis
OMIM:244200	CHD7	55636	HP:0000365	Hearing impairment
OMIM:244200	CHD7	55636	HP:0000458	Anosmia
OMIM:244200	CHD7	55636	HP:0000767	Pectus excavatum
OMIM:244200	CHD7	55636	HP:0001763	Pes planus
OMIM:244200	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:244200	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	FGFR1	2260	HP:0000054	Micropenis
OMIM:244200	FGFR1	2260	HP:0001250	Seizures
OMIM:244200	FGFR1	2260	HP:0000007	Autosomal recessive inheritance
OMIM:244200	FGFR1	2260	HP:0000204	Cleft upper lip
OMIM:244200	FGFR1	2260	HP:0000601	Hypotelorism
OMIM:244200	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:244200	FGFR1	2260	HP:0000175	Cleft palate
OMIM:244200	FGFR1	2260	HP:0000122	Unilateral renal agenesis
OMIM:244200	FGFR1	2260	HP:0000365	Hearing impairment
OMIM:244200	FGFR1	2260	HP:0000458	Anosmia
OMIM:244200	FGFR1	2260	HP:0000767	Pectus excavatum
OMIM:244200	FGFR1	2260	HP:0001763	Pes planus
OMIM:244200	HESX1	8820	HP:0000028	Cryptorchidism
OMIM:244200	HESX1	8820	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	HESX1	8820	HP:0000054	Micropenis
OMIM:244200	HESX1	8820	HP:0001250	Seizures
OMIM:244200	HESX1	8820	HP:0000007	Autosomal recessive inheritance
OMIM:244200	HESX1	8820	HP:0000204	Cleft upper lip
OMIM:244200	HESX1	8820	HP:0000601	Hypotelorism
OMIM:244200	HESX1	8820	HP:0000786	Primary amenorrhea
OMIM:244200	HESX1	8820	HP:0000175	Cleft palate
OMIM:244200	HESX1	8820	HP:0000122	Unilateral renal agenesis
OMIM:244200	HESX1	8820	HP:0000365	Hearing impairment
OMIM:244200	HESX1	8820	HP:0000458	Anosmia
OMIM:244200	HESX1	8820	HP:0000767	Pectus excavatum
OMIM:244200	HESX1	8820	HP:0001763	Pes planus
OMIM:244200	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:244200	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	TACR3	6870	HP:0000054	Micropenis
OMIM:244200	TACR3	6870	HP:0001250	Seizures
OMIM:244200	TACR3	6870	HP:0000007	Autosomal recessive inheritance
OMIM:244200	TACR3	6870	HP:0000204	Cleft upper lip
OMIM:244200	TACR3	6870	HP:0000601	Hypotelorism
OMIM:244200	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:244200	TACR3	6870	HP:0000175	Cleft palate
OMIM:244200	TACR3	6870	HP:0000122	Unilateral renal agenesis
OMIM:244200	TACR3	6870	HP:0000365	Hearing impairment
OMIM:244200	TACR3	6870	HP:0000458	Anosmia
OMIM:244200	TACR3	6870	HP:0000767	Pectus excavatum
OMIM:244200	TACR3	6870	HP:0001763	Pes planus
OMIM:244200	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:244200	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	FGF17	8822	HP:0000054	Micropenis
OMIM:244200	FGF17	8822	HP:0001250	Seizures
OMIM:244200	FGF17	8822	HP:0000007	Autosomal recessive inheritance
OMIM:244200	FGF17	8822	HP:0000204	Cleft upper lip
OMIM:244200	FGF17	8822	HP:0000601	Hypotelorism
OMIM:244200	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:244200	FGF17	8822	HP:0000175	Cleft palate
OMIM:244200	FGF17	8822	HP:0000122	Unilateral renal agenesis
OMIM:244200	FGF17	8822	HP:0000365	Hearing impairment
OMIM:244200	FGF17	8822	HP:0000458	Anosmia
OMIM:244200	FGF17	8822	HP:0000767	Pectus excavatum
OMIM:244200	FGF17	8822	HP:0001763	Pes planus
OMIM:244200	FLRT3	23767	HP:0000028	Cryptorchidism
OMIM:244200	FLRT3	23767	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	FLRT3	23767	HP:0000054	Micropenis
OMIM:244200	FLRT3	23767	HP:0001250	Seizures
OMIM:244200	FLRT3	23767	HP:0000007	Autosomal recessive inheritance
OMIM:244200	FLRT3	23767	HP:0000204	Cleft upper lip
OMIM:244200	FLRT3	23767	HP:0000601	Hypotelorism
OMIM:244200	FLRT3	23767	HP:0000786	Primary amenorrhea
OMIM:244200	FLRT3	23767	HP:0000175	Cleft palate
OMIM:244200	FLRT3	23767	HP:0000122	Unilateral renal agenesis
OMIM:244200	FLRT3	23767	HP:0000365	Hearing impairment
OMIM:244200	FLRT3	23767	HP:0000458	Anosmia
OMIM:244200	FLRT3	23767	HP:0000767	Pectus excavatum
OMIM:244200	FLRT3	23767	HP:0001763	Pes planus
OMIM:244200	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:244200	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	DUSP6	1848	HP:0000054	Micropenis
OMIM:244200	DUSP6	1848	HP:0001250	Seizures
OMIM:244200	DUSP6	1848	HP:0000007	Autosomal recessive inheritance
OMIM:244200	DUSP6	1848	HP:0000204	Cleft upper lip
OMIM:244200	DUSP6	1848	HP:0000601	Hypotelorism
OMIM:244200	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:244200	DUSP6	1848	HP:0000175	Cleft palate
OMIM:244200	DUSP6	1848	HP:0000122	Unilateral renal agenesis
OMIM:244200	DUSP6	1848	HP:0000365	Hearing impairment
OMIM:244200	DUSP6	1848	HP:0000458	Anosmia
OMIM:244200	DUSP6	1848	HP:0000767	Pectus excavatum
OMIM:244200	DUSP6	1848	HP:0001763	Pes planus
OMIM:244200	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:244200	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	SPRY4	81848	HP:0000054	Micropenis
OMIM:244200	SPRY4	81848	HP:0001250	Seizures
OMIM:244200	SPRY4	81848	HP:0000007	Autosomal recessive inheritance
OMIM:244200	SPRY4	81848	HP:0000204	Cleft upper lip
OMIM:244200	SPRY4	81848	HP:0000601	Hypotelorism
OMIM:244200	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:244200	SPRY4	81848	HP:0000175	Cleft palate
OMIM:244200	SPRY4	81848	HP:0000122	Unilateral renal agenesis
OMIM:244200	SPRY4	81848	HP:0000365	Hearing impairment
OMIM:244200	SPRY4	81848	HP:0000458	Anosmia
OMIM:244200	SPRY4	81848	HP:0000767	Pectus excavatum
OMIM:244200	SPRY4	81848	HP:0001763	Pes planus
OMIM:244200	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:244200	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	KISS1R	84634	HP:0000054	Micropenis
OMIM:244200	KISS1R	84634	HP:0001250	Seizures
OMIM:244200	KISS1R	84634	HP:0000007	Autosomal recessive inheritance
OMIM:244200	KISS1R	84634	HP:0000204	Cleft upper lip
OMIM:244200	KISS1R	84634	HP:0000601	Hypotelorism
OMIM:244200	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:244200	KISS1R	84634	HP:0000175	Cleft palate
OMIM:244200	KISS1R	84634	HP:0000122	Unilateral renal agenesis
OMIM:244200	KISS1R	84634	HP:0000365	Hearing impairment
OMIM:244200	KISS1R	84634	HP:0000458	Anosmia
OMIM:244200	KISS1R	84634	HP:0000767	Pectus excavatum
OMIM:244200	KISS1R	84634	HP:0001763	Pes planus
OMIM:244200	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:244200	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:244200	NSMF	26012	HP:0000054	Micropenis
OMIM:244200	NSMF	26012	HP:0001250	Seizures
OMIM:244200	NSMF	26012	HP:0000007	Autosomal recessive inheritance
OMIM:244200	NSMF	26012	HP:0000204	Cleft upper lip
OMIM:244200	NSMF	26012	HP:0000601	Hypotelorism
OMIM:244200	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:244200	NSMF	26012	HP:0000175	Cleft palate
OMIM:244200	NSMF	26012	HP:0000122	Unilateral renal agenesis
OMIM:244200	NSMF	26012	HP:0000365	Hearing impairment
OMIM:244200	NSMF	26012	HP:0000458	Anosmia
OMIM:244200	NSMF	26012	HP:0000767	Pectus excavatum
OMIM:244200	NSMF	26012	HP:0001763	Pes planus
OMIM:300422	CASK	8573	HP:0000316	Hypertelorism
OMIM:300422	CASK	8573	HP:0000407	Sensorineural hearing impairment
OMIM:300422	CASK	8573	HP:0002650	Scoliosis
OMIM:300422	CASK	8573	HP:0001319	Neonatal hypotonia
OMIM:300422	CASK	8573	HP:0008872	Feeding difficulties in infancy
OMIM:300422	CASK	8573	HP:0001417	X-linked inheritance
OMIM:300422	CASK	8573	HP:0000431	Wide nasal bridge
OMIM:300422	CASK	8573	HP:0001249	Intellectual disability
OMIM:300422	CASK	8573	HP:0011220	Prominent forehead
OMIM:300422	CASK	8573	HP:0001250	Seizures
OMIM:300422	CASK	8573	HP:0001263	Global developmental delay
OMIM:300537	FLNA	2316	HP:0000963	Thin skin
OMIM:300537	FLNA	2316	HP:0001646	Abnormality of the aortic valve
OMIM:300537	FLNA	2316	HP:0001382	Joint hypermobility
OMIM:300537	FLNA	2316	HP:0001250	Seizures
OMIM:300537	FLNA	2316	HP:0001928	Abnormality of coagulation
OMIM:300537	FLNA	2316	HP:0005111	Dilatation of the ascending aorta
OMIM:300537	FLNA	2316	HP:0002021	Pyloric stenosis
OMIM:300537	FLNA	2316	HP:0001643	Patent ductus arteriosus
OMIM:300537	FLNA	2316	HP:0100790	Hernia
OMIM:300537	FLNA	2316	HP:0002999	Patellar dislocation
OMIM:300537	FLNA	2316	HP:0002650	Scoliosis
OMIM:300537	FLNA	2316	HP:0002011	Morphological abnormality of the central nervous system
OMIM:300537	FLNA	2316	HP:0100543	Cognitive impairment
OMIM:611369	PIP5K1C	23396	HP:0003202	Skeletal muscle atrophy
OMIM:611369	PIP5K1C	23396	HP:0002093	Respiratory insufficiency
OMIM:611369	PIP5K1C	23396	HP:0000007	Autosomal recessive inheritance
OMIM:611369	PIP5K1C	23396	HP:0002804	Arthrogryposis multiplex congenita
OMIM:611369	MYBPC1	4604	HP:0003202	Skeletal muscle atrophy
OMIM:611369	MYBPC1	4604	HP:0002093	Respiratory insufficiency
OMIM:611369	MYBPC1	4604	HP:0000007	Autosomal recessive inheritance
OMIM:611369	MYBPC1	4604	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615828	MBD5	55777	HP:0000718	Aggressive behavior
OMIM:615828	MBD5	55777	HP:0000720	Mood swings
OMIM:615828	MBD5	55777	HP:0002719	Recurrent infections
OMIM:615828	MBD5	55777	HP:0000179	Thick lower lip vermilion
OMIM:615828	MBD5	55777	HP:0000303	Mandibular prognathia
OMIM:615828	MBD5	55777	HP:0010804	Tented upper lip vermilion
OMIM:615828	MBD5	55777	HP:0001263	Global developmental delay
OMIM:615828	MBD5	55777	HP:0001288	Gait disturbance
OMIM:615828	MBD5	55777	HP:0000960	Sacral dimple
OMIM:615828	MBD5	55777	HP:0001249	Intellectual disability
OMIM:615828	CACNG2	10369	HP:0000718	Aggressive behavior
OMIM:615828	CACNG2	10369	HP:0000720	Mood swings
OMIM:615828	CACNG2	10369	HP:0002719	Recurrent infections
OMIM:615828	CACNG2	10369	HP:0000179	Thick lower lip vermilion
OMIM:615828	CACNG2	10369	HP:0000303	Mandibular prognathia
OMIM:615828	CACNG2	10369	HP:0010804	Tented upper lip vermilion
OMIM:615828	CACNG2	10369	HP:0001263	Global developmental delay
OMIM:615828	CACNG2	10369	HP:0001288	Gait disturbance
OMIM:615828	CACNG2	10369	HP:0000960	Sacral dimple
OMIM:615828	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:615828	DYRK1A	1859	HP:0000718	Aggressive behavior
OMIM:615828	DYRK1A	1859	HP:0000720	Mood swings
OMIM:615828	DYRK1A	1859	HP:0002719	Recurrent infections
OMIM:615828	DYRK1A	1859	HP:0000179	Thick lower lip vermilion
OMIM:615828	DYRK1A	1859	HP:0000303	Mandibular prognathia
OMIM:615828	DYRK1A	1859	HP:0010804	Tented upper lip vermilion
OMIM:615828	DYRK1A	1859	HP:0001263	Global developmental delay
OMIM:615828	DYRK1A	1859	HP:0001288	Gait disturbance
OMIM:615828	DYRK1A	1859	HP:0000960	Sacral dimple
OMIM:615828	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:615828	KIF1A	547	HP:0000718	Aggressive behavior
OMIM:615828	KIF1A	547	HP:0000720	Mood swings
OMIM:615828	KIF1A	547	HP:0002719	Recurrent infections
OMIM:615828	KIF1A	547	HP:0000179	Thick lower lip vermilion
OMIM:615828	KIF1A	547	HP:0000303	Mandibular prognathia
OMIM:615828	KIF1A	547	HP:0010804	Tented upper lip vermilion
OMIM:615828	KIF1A	547	HP:0001263	Global developmental delay
OMIM:615828	KIF1A	547	HP:0001288	Gait disturbance
OMIM:615828	KIF1A	547	HP:0000960	Sacral dimple
OMIM:615828	KIF1A	547	HP:0001249	Intellectual disability
OMIM:615828	DOCK8	81704	HP:0000718	Aggressive behavior
OMIM:615828	DOCK8	81704	HP:0000720	Mood swings
OMIM:615828	DOCK8	81704	HP:0002719	Recurrent infections
OMIM:615828	DOCK8	81704	HP:0000179	Thick lower lip vermilion
OMIM:615828	DOCK8	81704	HP:0000303	Mandibular prognathia
OMIM:615828	DOCK8	81704	HP:0010804	Tented upper lip vermilion
OMIM:615828	DOCK8	81704	HP:0001263	Global developmental delay
OMIM:615828	DOCK8	81704	HP:0001288	Gait disturbance
OMIM:615828	DOCK8	81704	HP:0000960	Sacral dimple
OMIM:615828	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:615828	TCF4	6925	HP:0000718	Aggressive behavior
OMIM:615828	TCF4	6925	HP:0000720	Mood swings
OMIM:615828	TCF4	6925	HP:0002719	Recurrent infections
OMIM:615828	TCF4	6925	HP:0000179	Thick lower lip vermilion
OMIM:615828	TCF4	6925	HP:0000303	Mandibular prognathia
OMIM:615828	TCF4	6925	HP:0010804	Tented upper lip vermilion
OMIM:615828	TCF4	6925	HP:0001263	Global developmental delay
OMIM:615828	TCF4	6925	HP:0001288	Gait disturbance
OMIM:615828	TCF4	6925	HP:0000960	Sacral dimple
OMIM:615828	TCF4	6925	HP:0001249	Intellectual disability
OMIM:615828	KIRREL3	84623	HP:0000718	Aggressive behavior
OMIM:615828	KIRREL3	84623	HP:0000720	Mood swings
OMIM:615828	KIRREL3	84623	HP:0002719	Recurrent infections
OMIM:615828	KIRREL3	84623	HP:0000179	Thick lower lip vermilion
OMIM:615828	KIRREL3	84623	HP:0000303	Mandibular prognathia
OMIM:615828	KIRREL3	84623	HP:0010804	Tented upper lip vermilion
OMIM:615828	KIRREL3	84623	HP:0001263	Global developmental delay
OMIM:615828	KIRREL3	84623	HP:0001288	Gait disturbance
OMIM:615828	KIRREL3	84623	HP:0000960	Sacral dimple
OMIM:615828	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:615828	DYNC1H1	1778	HP:0000718	Aggressive behavior
OMIM:615828	DYNC1H1	1778	HP:0000720	Mood swings
OMIM:615828	DYNC1H1	1778	HP:0002719	Recurrent infections
OMIM:615828	DYNC1H1	1778	HP:0000179	Thick lower lip vermilion
OMIM:615828	DYNC1H1	1778	HP:0000303	Mandibular prognathia
OMIM:615828	DYNC1H1	1778	HP:0010804	Tented upper lip vermilion
OMIM:615828	DYNC1H1	1778	HP:0001263	Global developmental delay
OMIM:615828	DYNC1H1	1778	HP:0001288	Gait disturbance
OMIM:615828	DYNC1H1	1778	HP:0000960	Sacral dimple
OMIM:615828	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:615828	EPB41L1	2036	HP:0000718	Aggressive behavior
OMIM:615828	EPB41L1	2036	HP:0000720	Mood swings
OMIM:615828	EPB41L1	2036	HP:0002719	Recurrent infections
OMIM:615828	EPB41L1	2036	HP:0000179	Thick lower lip vermilion
OMIM:615828	EPB41L1	2036	HP:0000303	Mandibular prognathia
OMIM:615828	EPB41L1	2036	HP:0010804	Tented upper lip vermilion
OMIM:615828	EPB41L1	2036	HP:0001263	Global developmental delay
OMIM:615828	EPB41L1	2036	HP:0001288	Gait disturbance
OMIM:615828	EPB41L1	2036	HP:0000960	Sacral dimple
OMIM:615828	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:615828	CDH15	1013	HP:0000718	Aggressive behavior
OMIM:615828	CDH15	1013	HP:0000720	Mood swings
OMIM:615828	CDH15	1013	HP:0002719	Recurrent infections
OMIM:615828	CDH15	1013	HP:0000179	Thick lower lip vermilion
OMIM:615828	CDH15	1013	HP:0000303	Mandibular prognathia
OMIM:615828	CDH15	1013	HP:0010804	Tented upper lip vermilion
OMIM:615828	CDH15	1013	HP:0001263	Global developmental delay
OMIM:615828	CDH15	1013	HP:0001288	Gait disturbance
OMIM:615828	CDH15	1013	HP:0000960	Sacral dimple
OMIM:615828	CDH15	1013	HP:0001249	Intellectual disability
OMIM:615828	GRIN1	2902	HP:0000718	Aggressive behavior
OMIM:615828	GRIN1	2902	HP:0000720	Mood swings
OMIM:615828	GRIN1	2902	HP:0002719	Recurrent infections
OMIM:615828	GRIN1	2902	HP:0000179	Thick lower lip vermilion
OMIM:615828	GRIN1	2902	HP:0000303	Mandibular prognathia
OMIM:615828	GRIN1	2902	HP:0010804	Tented upper lip vermilion
OMIM:615828	GRIN1	2902	HP:0001263	Global developmental delay
OMIM:615828	GRIN1	2902	HP:0001288	Gait disturbance
OMIM:615828	GRIN1	2902	HP:0000960	Sacral dimple
OMIM:615828	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:615828	GRIN2B	2904	HP:0000718	Aggressive behavior
OMIM:615828	GRIN2B	2904	HP:0000720	Mood swings
OMIM:615828	GRIN2B	2904	HP:0002719	Recurrent infections
OMIM:615828	GRIN2B	2904	HP:0000179	Thick lower lip vermilion
OMIM:615828	GRIN2B	2904	HP:0000303	Mandibular prognathia
OMIM:615828	GRIN2B	2904	HP:0010804	Tented upper lip vermilion
OMIM:615828	GRIN2B	2904	HP:0001263	Global developmental delay
OMIM:615828	GRIN2B	2904	HP:0001288	Gait disturbance
OMIM:615828	GRIN2B	2904	HP:0000960	Sacral dimple
OMIM:615828	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:615828	DEAF1	10522	HP:0000718	Aggressive behavior
OMIM:615828	DEAF1	10522	HP:0000720	Mood swings
OMIM:615828	DEAF1	10522	HP:0002719	Recurrent infections
OMIM:615828	DEAF1	10522	HP:0000179	Thick lower lip vermilion
OMIM:615828	DEAF1	10522	HP:0000303	Mandibular prognathia
OMIM:615828	DEAF1	10522	HP:0010804	Tented upper lip vermilion
OMIM:615828	DEAF1	10522	HP:0001263	Global developmental delay
OMIM:615828	DEAF1	10522	HP:0001288	Gait disturbance
OMIM:615828	DEAF1	10522	HP:0000960	Sacral dimple
OMIM:615828	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:615828	SYNGAP1	8831	HP:0000718	Aggressive behavior
OMIM:615828	SYNGAP1	8831	HP:0000720	Mood swings
OMIM:615828	SYNGAP1	8831	HP:0002719	Recurrent infections
OMIM:615828	SYNGAP1	8831	HP:0000179	Thick lower lip vermilion
OMIM:615828	SYNGAP1	8831	HP:0000303	Mandibular prognathia
OMIM:615828	SYNGAP1	8831	HP:0010804	Tented upper lip vermilion
OMIM:615828	SYNGAP1	8831	HP:0001263	Global developmental delay
OMIM:615828	SYNGAP1	8831	HP:0001288	Gait disturbance
OMIM:615828	SYNGAP1	8831	HP:0000960	Sacral dimple
OMIM:615828	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:605543	GBA	2629	HP:0003678	Rapidly progressive
OMIM:605543	GBA	2629	HP:0000726	Dementia
OMIM:605543	GBA	2629	HP:0011999	Paranoia
OMIM:605543	GBA	2629	HP:0000006	Autosomal dominant inheritance
OMIM:605543	GBA	2629	HP:0001300	Parkinsonism
OMIM:605543	GBA	2629	HP:0000738	Hallucinations
OMIM:605543	GBA	2629	HP:0001824	Weight loss
OMIM:605543	DNAJC13	23317	HP:0003678	Rapidly progressive
OMIM:605543	DNAJC13	23317	HP:0000726	Dementia
OMIM:605543	DNAJC13	23317	HP:0011999	Paranoia
OMIM:605543	DNAJC13	23317	HP:0000006	Autosomal dominant inheritance
OMIM:605543	DNAJC13	23317	HP:0001300	Parkinsonism
OMIM:605543	DNAJC13	23317	HP:0000738	Hallucinations
OMIM:605543	DNAJC13	23317	HP:0001824	Weight loss
OMIM:605543	VPS35	55737	HP:0003678	Rapidly progressive
OMIM:605543	VPS35	55737	HP:0000726	Dementia
OMIM:605543	VPS35	55737	HP:0011999	Paranoia
OMIM:605543	VPS35	55737	HP:0000006	Autosomal dominant inheritance
OMIM:605543	VPS35	55737	HP:0001300	Parkinsonism
OMIM:605543	VPS35	55737	HP:0000738	Hallucinations
OMIM:605543	VPS35	55737	HP:0001824	Weight loss
OMIM:605543	GIGYF2	26058	HP:0003678	Rapidly progressive
OMIM:605543	GIGYF2	26058	HP:0000726	Dementia
OMIM:605543	GIGYF2	26058	HP:0011999	Paranoia
OMIM:605543	GIGYF2	26058	HP:0000006	Autosomal dominant inheritance
OMIM:605543	GIGYF2	26058	HP:0001300	Parkinsonism
OMIM:605543	GIGYF2	26058	HP:0000738	Hallucinations
OMIM:605543	GIGYF2	26058	HP:0001824	Weight loss
OMIM:605543	LRRK2	120892	HP:0003678	Rapidly progressive
OMIM:605543	LRRK2	120892	HP:0000726	Dementia
OMIM:605543	LRRK2	120892	HP:0011999	Paranoia
OMIM:605543	LRRK2	120892	HP:0000006	Autosomal dominant inheritance
OMIM:605543	LRRK2	120892	HP:0001300	Parkinsonism
OMIM:605543	LRRK2	120892	HP:0000738	Hallucinations
OMIM:605543	LRRK2	120892	HP:0001824	Weight loss
OMIM:605543	EIF4G1	1981	HP:0003678	Rapidly progressive
OMIM:605543	EIF4G1	1981	HP:0000726	Dementia
OMIM:605543	EIF4G1	1981	HP:0011999	Paranoia
OMIM:605543	EIF4G1	1981	HP:0000006	Autosomal dominant inheritance
OMIM:605543	EIF4G1	1981	HP:0001300	Parkinsonism
OMIM:605543	EIF4G1	1981	HP:0000738	Hallucinations
OMIM:605543	EIF4G1	1981	HP:0001824	Weight loss
OMIM:605543	SNCA	6622	HP:0003678	Rapidly progressive
OMIM:605543	SNCA	6622	HP:0000726	Dementia
OMIM:605543	SNCA	6622	HP:0011999	Paranoia
OMIM:605543	SNCA	6622	HP:0000006	Autosomal dominant inheritance
OMIM:605543	SNCA	6622	HP:0001300	Parkinsonism
OMIM:605543	SNCA	6622	HP:0000738	Hallucinations
OMIM:605543	SNCA	6622	HP:0001824	Weight loss
OMIM:608219	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:608219	MSRB3	253827	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:608219	BSND	7809	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:608219	ESPN	83715	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:608219	DFNB31	25861	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:608219	OTOA	146183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:608219	GJA1	2697	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:608219	MET	4233	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:608219	CLDN14	23562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:608219	HGF	3082	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:608219	PNPT1	87178	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:608219	EPS8	2059	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:608219	MYO3A	53904	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:608219	DCDC2	51473	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:608219	GJB2	2706	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:608219	GJB3	2707	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:608219	CABP2	51475	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:608219	GRXCR2	643226	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:608219	SERPINB6	5269	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:608219	COL11A2	1302	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:608219	CIB2	10518	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:608219	FAM65B	9750	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:608219	KARS	3735	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:608219	LOXHD1	125336	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:608219	TMC1	117531	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:608219	CLIC5	53405	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:608219	OTOF	9381	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:608219	MYO6	4646	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:608219	TMIE	259236	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:608219	MYO7A	4647	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:608219	LRTOMT	220074	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:608219	OTOGL	283310	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:608219	TPRN	286262	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:608219	SLC26A4	5172	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:608219	GJB6	10804	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:608219	DFNB59	494513	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:608219	ESRRB	2103	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:608219	TMPRSS3	64699	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:608219	PTPRQ	374462	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:608219	SLC26A5	375611	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:608219	PCDH15	65217	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:608219	TSPEAR	54084	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:608219	LHFPL5	222662	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:608219	TRIOBP	11078	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:608219	CDH23	64072	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:608219	RDX	5962	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:608219	GPSM2	29899	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:608219	ELMOD3	84173	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:608219	ILDR1	286676	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:608219	GRXCR1	389207	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:608219	MARVELD2	153562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:608219	STRC	161497	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:608219	SLITRK6	84189	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:608219	TECTA	7007	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:608219	MYO15A	51168	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:608219	USH1C	10083	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:608219	ADCY1	107	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:608219	SYNE4	163183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:608219	GIPC3	126326	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:608219	TBC1D24	57465	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608219	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:608219	OTOG	340990	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:138300	GSR	2936	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:138300	GSR	2936	HP:0000007	Autosomal recessive inheritance
OMIM:138300	GSR	2936	HP:0001878	Hemolytic anemia
OMIM:609404	STOX1	219736	HP:0010982	Polygenic inheritance
OMIM:609404	STOX1	219736	HP:0100602	Preeclampsia
OMIM:609404	CORIN	10699	HP:0010982	Polygenic inheritance
OMIM:609404	CORIN	10699	HP:0100602	Preeclampsia
OMIM:123500	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:123500	FGFR2	2263	HP:0000248	Brachycephaly
OMIM:123500	FGFR2	2263	HP:0000174	Abnormality of the palate
OMIM:123500	FGFR2	2263	HP:0000405	Conductive hearing impairment
OMIM:123500	FGFR2	2263	HP:0000486	Strabismus
OMIM:123500	FGFR2	2263	HP:0000648	Optic atrophy
OMIM:123500	FGFR2	2263	HP:0001739	Abnormality of the nasopharynx
OMIM:123500	FGFR2	2263	HP:0000348	High forehead
OMIM:123500	FGFR2	2263	HP:0000453	Choanal atresia
OMIM:123500	FGFR2	2263	HP:0001999	Abnormal facial shape
OMIM:123500	FGFR2	2263	HP:0002308	Arnold-Chiari malformation
OMIM:123500	FGFR2	2263	HP:0002007	Frontal bossing
OMIM:123500	FGFR2	2263	HP:0002076	Migraine
OMIM:123500	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:123500	FGFR2	2263	HP:0001363	Craniosynostosis
OMIM:123500	FGFR2	2263	HP:0000413	Atresia of the external auditory canal
OMIM:123500	FGFR2	2263	HP:0000505	Visual impairment
OMIM:123500	FGFR2	2263	HP:0000995	Melanocytic nevus
OMIM:123500	FGFR2	2263	HP:0000238	Hydrocephalus
OMIM:123500	FGFR2	2263	HP:0000509	Conjunctivitis
OMIM:123500	FGFR2	2263	HP:0000327	Hypoplasia of the maxilla
OMIM:123500	FGFR2	2263	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:123500	FGFR2	2263	HP:0000956	Acanthosis nigricans
OMIM:123500	FGFR2	2263	HP:0000612	Iris coloboma
OMIM:123500	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:123500	FGFR2	2263	HP:0010535	Sleep apnea
OMIM:123500	FGFR2	2263	HP:0004443	Lambdoidal craniosynostosis
OMIM:123500	FGFR2	2263	HP:0002093	Respiratory insufficiency
OMIM:123500	FGFR2	2263	HP:0004442	Sagittal craniosynostosis
OMIM:123500	FGFR2	2263	HP:0001053	Hypopigmented skin patches
OMIM:123500	FGFR2	2263	HP:0000678	Dental crowding
OMIM:123500	FGFR2	2263	HP:0005107	Abnormality of the sacrum
OMIM:123500	FGFR2	2263	HP:0001250	Seizures
OMIM:123500	FGFR2	2263	HP:0000303	Mandibular prognathia
OMIM:123500	FGFR2	2263	HP:0000508	Ptosis
OMIM:123500	FGFR2	2263	HP:0001249	Intellectual disability
OMIM:123500	FGFR2	2263	HP:0000444	Convex nasal ridge
OMIM:123500	FGFR2	2263	HP:0003319	Abnormality of the cervical spine
OMIM:123500	ERF	2077	HP:0000316	Hypertelorism
OMIM:123500	ERF	2077	HP:0000248	Brachycephaly
OMIM:123500	ERF	2077	HP:0000174	Abnormality of the palate
OMIM:123500	ERF	2077	HP:0000405	Conductive hearing impairment
OMIM:123500	ERF	2077	HP:0000486	Strabismus
OMIM:123500	ERF	2077	HP:0000648	Optic atrophy
OMIM:123500	ERF	2077	HP:0001739	Abnormality of the nasopharynx
OMIM:123500	ERF	2077	HP:0000348	High forehead
OMIM:123500	ERF	2077	HP:0000453	Choanal atresia
OMIM:123500	ERF	2077	HP:0001999	Abnormal facial shape
OMIM:123500	ERF	2077	HP:0002308	Arnold-Chiari malformation
OMIM:123500	ERF	2077	HP:0002007	Frontal bossing
OMIM:123500	ERF	2077	HP:0002076	Migraine
OMIM:123500	ERF	2077	HP:0000006	Autosomal dominant inheritance
OMIM:123500	ERF	2077	HP:0001363	Craniosynostosis
OMIM:123500	ERF	2077	HP:0000413	Atresia of the external auditory canal
OMIM:123500	ERF	2077	HP:0000505	Visual impairment
OMIM:123500	ERF	2077	HP:0000995	Melanocytic nevus
OMIM:123500	ERF	2077	HP:0000238	Hydrocephalus
OMIM:123500	ERF	2077	HP:0000509	Conjunctivitis
OMIM:123500	ERF	2077	HP:0000327	Hypoplasia of the maxilla
OMIM:123500	ERF	2077	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:123500	ERF	2077	HP:0000956	Acanthosis nigricans
OMIM:123500	ERF	2077	HP:0000612	Iris coloboma
OMIM:123500	ERF	2077	HP:0004440	Coronal craniosynostosis
OMIM:123500	ERF	2077	HP:0010535	Sleep apnea
OMIM:123500	ERF	2077	HP:0004443	Lambdoidal craniosynostosis
OMIM:123500	ERF	2077	HP:0002093	Respiratory insufficiency
OMIM:123500	ERF	2077	HP:0004442	Sagittal craniosynostosis
OMIM:123500	ERF	2077	HP:0001053	Hypopigmented skin patches
OMIM:123500	ERF	2077	HP:0000678	Dental crowding
OMIM:123500	ERF	2077	HP:0005107	Abnormality of the sacrum
OMIM:123500	ERF	2077	HP:0001250	Seizures
OMIM:123500	ERF	2077	HP:0000303	Mandibular prognathia
OMIM:123500	ERF	2077	HP:0000508	Ptosis
OMIM:123500	ERF	2077	HP:0001249	Intellectual disability
OMIM:123500	ERF	2077	HP:0000444	Convex nasal ridge
OMIM:123500	ERF	2077	HP:0003319	Abnormality of the cervical spine
OMIM:614111	PDHB	5162	HP:0003128	Lactic acidosis
OMIM:614111	PDHB	5162	HP:0000007	Autosomal recessive inheritance
OMIM:614111	PDHB	5162	HP:0001290	Generalized hypotonia
OMIM:615374	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	AIPL1	23746	HP:0011003	Severe Myopia
OMIM:615374	AIPL1	23746	HP:0008001	Foveal hyperpigmentation
OMIM:615374	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:615374	AIPL1	23746	HP:0000603	Central scotoma
OMIM:615374	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	PITPNM3	83394	HP:0011003	Severe Myopia
OMIM:615374	PITPNM3	83394	HP:0008001	Foveal hyperpigmentation
OMIM:615374	PITPNM3	83394	HP:0000007	Autosomal recessive inheritance
OMIM:615374	PITPNM3	83394	HP:0000603	Central scotoma
OMIM:615374	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	OPN1LW	5956	HP:0011003	Severe Myopia
OMIM:615374	OPN1LW	5956	HP:0008001	Foveal hyperpigmentation
OMIM:615374	OPN1LW	5956	HP:0000007	Autosomal recessive inheritance
OMIM:615374	OPN1LW	5956	HP:0000603	Central scotoma
OMIM:615374	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	UNC119	9094	HP:0011003	Severe Myopia
OMIM:615374	UNC119	9094	HP:0008001	Foveal hyperpigmentation
OMIM:615374	UNC119	9094	HP:0000007	Autosomal recessive inheritance
OMIM:615374	UNC119	9094	HP:0000603	Central scotoma
OMIM:615374	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	RPGRIP1	57096	HP:0011003	Severe Myopia
OMIM:615374	RPGRIP1	57096	HP:0008001	Foveal hyperpigmentation
OMIM:615374	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:615374	RPGRIP1	57096	HP:0000603	Central scotoma
OMIM:615374	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	PRPH2	5961	HP:0011003	Severe Myopia
OMIM:615374	PRPH2	5961	HP:0008001	Foveal hyperpigmentation
OMIM:615374	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:615374	PRPH2	5961	HP:0000603	Central scotoma
OMIM:615374	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	CACNA1F	778	HP:0011003	Severe Myopia
OMIM:615374	CACNA1F	778	HP:0008001	Foveal hyperpigmentation
OMIM:615374	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:615374	CACNA1F	778	HP:0000603	Central scotoma
OMIM:615374	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	PROM1	8842	HP:0011003	Severe Myopia
OMIM:615374	PROM1	8842	HP:0008001	Foveal hyperpigmentation
OMIM:615374	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:615374	PROM1	8842	HP:0000603	Central scotoma
OMIM:615374	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	DRAM2	128338	HP:0011003	Severe Myopia
OMIM:615374	DRAM2	128338	HP:0008001	Foveal hyperpigmentation
OMIM:615374	DRAM2	128338	HP:0000007	Autosomal recessive inheritance
OMIM:615374	DRAM2	128338	HP:0000603	Central scotoma
OMIM:615374	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	RAB28	9364	HP:0011003	Severe Myopia
OMIM:615374	RAB28	9364	HP:0008001	Foveal hyperpigmentation
OMIM:615374	RAB28	9364	HP:0000007	Autosomal recessive inheritance
OMIM:615374	RAB28	9364	HP:0000603	Central scotoma
OMIM:615374	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	CACNA2D4	93589	HP:0011003	Severe Myopia
OMIM:615374	CACNA2D4	93589	HP:0008001	Foveal hyperpigmentation
OMIM:615374	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:615374	CACNA2D4	93589	HP:0000603	Central scotoma
OMIM:615374	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	RIMS1	22999	HP:0011003	Severe Myopia
OMIM:615374	RIMS1	22999	HP:0008001	Foveal hyperpigmentation
OMIM:615374	RIMS1	22999	HP:0000007	Autosomal recessive inheritance
OMIM:615374	RIMS1	22999	HP:0000603	Central scotoma
OMIM:615374	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	RPGR	6103	HP:0011003	Severe Myopia
OMIM:615374	RPGR	6103	HP:0008001	Foveal hyperpigmentation
OMIM:615374	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615374	RPGR	6103	HP:0000603	Central scotoma
OMIM:615374	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	ABCA4	24	HP:0011003	Severe Myopia
OMIM:615374	ABCA4	24	HP:0008001	Foveal hyperpigmentation
OMIM:615374	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:615374	ABCA4	24	HP:0000603	Central scotoma
OMIM:615374	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	SEMA4A	64218	HP:0011003	Severe Myopia
OMIM:615374	SEMA4A	64218	HP:0008001	Foveal hyperpigmentation
OMIM:615374	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:615374	SEMA4A	64218	HP:0000603	Central scotoma
OMIM:615374	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	C8ORF37	157657	HP:0011003	Severe Myopia
OMIM:615374	C8ORF37	157657	HP:0008001	Foveal hyperpigmentation
OMIM:615374	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:615374	C8ORF37	157657	HP:0000603	Central scotoma
OMIM:615374	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	OPN1MW	2652	HP:0011003	Severe Myopia
OMIM:615374	OPN1MW	2652	HP:0008001	Foveal hyperpigmentation
OMIM:615374	OPN1MW	2652	HP:0000007	Autosomal recessive inheritance
OMIM:615374	OPN1MW	2652	HP:0000603	Central scotoma
OMIM:615374	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	GUCA1A	2978	HP:0011003	Severe Myopia
OMIM:615374	GUCA1A	2978	HP:0008001	Foveal hyperpigmentation
OMIM:615374	GUCA1A	2978	HP:0000007	Autosomal recessive inheritance
OMIM:615374	GUCA1A	2978	HP:0000603	Central scotoma
OMIM:615374	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	RAX2	84839	HP:0011003	Severe Myopia
OMIM:615374	RAX2	84839	HP:0008001	Foveal hyperpigmentation
OMIM:615374	RAX2	84839	HP:0000007	Autosomal recessive inheritance
OMIM:615374	RAX2	84839	HP:0000603	Central scotoma
OMIM:615374	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	CNGA3	1261	HP:0011003	Severe Myopia
OMIM:615374	CNGA3	1261	HP:0008001	Foveal hyperpigmentation
OMIM:615374	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:615374	CNGA3	1261	HP:0000603	Central scotoma
OMIM:615374	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	ADAM9	8754	HP:0011003	Severe Myopia
OMIM:615374	ADAM9	8754	HP:0008001	Foveal hyperpigmentation
OMIM:615374	ADAM9	8754	HP:0000007	Autosomal recessive inheritance
OMIM:615374	ADAM9	8754	HP:0000603	Central scotoma
OMIM:615374	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	CDHR1	92211	HP:0011003	Severe Myopia
OMIM:615374	CDHR1	92211	HP:0008001	Foveal hyperpigmentation
OMIM:615374	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:615374	CDHR1	92211	HP:0000603	Central scotoma
OMIM:615374	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	TTLL5	23093	HP:0011003	Severe Myopia
OMIM:615374	TTLL5	23093	HP:0008001	Foveal hyperpigmentation
OMIM:615374	TTLL5	23093	HP:0000007	Autosomal recessive inheritance
OMIM:615374	TTLL5	23093	HP:0000603	Central scotoma
OMIM:615374	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	GUCY2D	3000	HP:0011003	Severe Myopia
OMIM:615374	GUCY2D	3000	HP:0008001	Foveal hyperpigmentation
OMIM:615374	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:615374	GUCY2D	3000	HP:0000603	Central scotoma
OMIM:615374	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	POC1B	282809	HP:0011003	Severe Myopia
OMIM:615374	POC1B	282809	HP:0008001	Foveal hyperpigmentation
OMIM:615374	POC1B	282809	HP:0000007	Autosomal recessive inheritance
OMIM:615374	POC1B	282809	HP:0000603	Central scotoma
OMIM:615374	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:615374	CRX	1406	HP:0011003	Severe Myopia
OMIM:615374	CRX	1406	HP:0008001	Foveal hyperpigmentation
OMIM:615374	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:615374	CRX	1406	HP:0000603	Central scotoma
OMIM:201000	MEGF8	1954	HP:0000405	Conductive hearing impairment
OMIM:201000	MEGF8	1954	HP:0002673	Coxa valga
OMIM:201000	MEGF8	1954	HP:0000470	Short neck
OMIM:201000	MEGF8	1954	HP:0003298	Spina bifida occulta
OMIM:201000	MEGF8	1954	HP:0009891	Underdeveloped supraorbital ridges
OMIM:201000	MEGF8	1954	HP:0001513	Obesity
OMIM:201000	MEGF8	1954	HP:0006335	Persistence of primary teeth
OMIM:201000	MEGF8	1954	HP:0002970	Genu varum
OMIM:201000	MEGF8	1954	HP:0003182	Shallow acetabular fossae
OMIM:201000	MEGF8	1954	HP:0006397	Lateral displacement of patellae
OMIM:201000	MEGF8	1954	HP:0012385	Camptodactyly
OMIM:201000	MEGF8	1954	HP:0001770	Toe syndactyly
OMIM:201000	MEGF8	1954	HP:0002869	Flared iliac wings
OMIM:201000	MEGF8	1954	HP:0004442	Sagittal craniosynostosis
OMIM:201000	MEGF8	1954	HP:0000126	Hydronephrosis
OMIM:201000	MEGF8	1954	HP:0000347	Micrognathia
OMIM:201000	MEGF8	1954	HP:0000960	Sacral dimple
OMIM:201000	MEGF8	1954	HP:0002700	Large foramen magnum
OMIM:201000	MEGF8	1954	HP:0001643	Patent ductus arteriosus
OMIM:201000	MEGF8	1954	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:201000	MEGF8	1954	HP:0005280	Depressed nasal bridge
OMIM:201000	MEGF8	1954	HP:0001249	Intellectual disability
OMIM:201000	MEGF8	1954	HP:0001841	Preaxial foot polydactyly
OMIM:201000	MEGF8	1954	HP:0007759	Opacification of the corneal stroma
OMIM:201000	MEGF8	1954	HP:0009608	Complete duplication of proximal phalanx of the thumb
OMIM:201000	MEGF8	1954	HP:0001642	Pulmonic stenosis
OMIM:201000	MEGF8	1954	HP:0000286	Epicanthus
OMIM:201000	MEGF8	1954	HP:0010275	Pseudoepiphyses of the proximal phalanges of the hand
OMIM:201000	MEGF8	1954	HP:0000327	Hypoplasia of the maxilla
OMIM:201000	MEGF8	1954	HP:0000506	Telecanthus
OMIM:201000	MEGF8	1954	HP:0000248	Brachycephaly
OMIM:201000	MEGF8	1954	HP:0001156	Brachydactyly syndrome
OMIM:201000	MEGF8	1954	HP:0001636	Tetralogy of Fallot
OMIM:201000	MEGF8	1954	HP:0003241	External genital hypoplasia
OMIM:201000	MEGF8	1954	HP:0009473	Joint contracture of the hand
OMIM:201000	MEGF8	1954	HP:0002059	Cerebral atrophy
OMIM:201000	MEGF8	1954	HP:0000648	Optic atrophy
OMIM:201000	MEGF8	1954	HP:0000272	Malar flattening
OMIM:201000	MEGF8	1954	HP:0000369	Low-set ears
OMIM:201000	MEGF8	1954	HP:0001840	Metatarsus adductus
OMIM:201000	MEGF8	1954	HP:0000072	Hydroureter
OMIM:201000	MEGF8	1954	HP:0000218	High palate
OMIM:201000	MEGF8	1954	HP:0000826	Precocious puberty
OMIM:201000	MEGF8	1954	HP:0002650	Scoliosis
OMIM:201000	MEGF8	1954	HP:0004467	Preauricular pit
OMIM:201000	MEGF8	1954	HP:0004443	Lambdoidal craniosynostosis
OMIM:201000	MEGF8	1954	HP:0000482	Microcornea
OMIM:201000	MEGF8	1954	HP:0001631	Atria septal defect
OMIM:201000	MEGF8	1954	HP:0001162	Postaxial hand polydactyly
OMIM:201000	MEGF8	1954	HP:0010093	Duplication of the proximal phalanx of the hallux
OMIM:201000	MEGF8	1954	HP:0001537	Umbilical hernia
OMIM:201000	MEGF8	1954	HP:0001748	Polysplenia
OMIM:201000	MEGF8	1954	HP:0000028	Cryptorchidism
OMIM:201000	MEGF8	1954	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:201000	MEGF8	1954	HP:0001539	Omphalocele
OMIM:201000	MEGF8	1954	HP:0004209	Clinodactyly of the 5th finger
OMIM:201000	MEGF8	1954	HP:0011800	Hypoplasia of midface
OMIM:201000	MEGF8	1954	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:201000	MEGF8	1954	HP:0000007	Autosomal recessive inheritance
OMIM:201000	MEGF8	1954	HP:0002857	Genu valgum
OMIM:201000	MEGF8	1954	HP:0004440	Coronal craniosynostosis
OMIM:201000	MEGF8	1954	HP:0000377	Abnormality of the pinna
OMIM:201000	MEGF8	1954	HP:0001629	Ventricular septal defect
OMIM:201000	MEGF8	1954	HP:0000407	Sensorineural hearing impairment
OMIM:201000	MEGF8	1954	HP:0006349	Agenesis of permanent teeth
OMIM:201000	MEGF8	1954	HP:0001669	Transposition of the great arteries
OMIM:201000	MEGF8	1954	HP:0004322	Short stature
OMIM:201000	RAB23	51715	HP:0000405	Conductive hearing impairment
OMIM:201000	RAB23	51715	HP:0002673	Coxa valga
OMIM:201000	RAB23	51715	HP:0000470	Short neck
OMIM:201000	RAB23	51715	HP:0003298	Spina bifida occulta
OMIM:201000	RAB23	51715	HP:0009891	Underdeveloped supraorbital ridges
OMIM:201000	RAB23	51715	HP:0001513	Obesity
OMIM:201000	RAB23	51715	HP:0006335	Persistence of primary teeth
OMIM:201000	RAB23	51715	HP:0002970	Genu varum
OMIM:201000	RAB23	51715	HP:0003182	Shallow acetabular fossae
OMIM:201000	RAB23	51715	HP:0006397	Lateral displacement of patellae
OMIM:201000	RAB23	51715	HP:0012385	Camptodactyly
OMIM:201000	RAB23	51715	HP:0001770	Toe syndactyly
OMIM:201000	RAB23	51715	HP:0002869	Flared iliac wings
OMIM:201000	RAB23	51715	HP:0004442	Sagittal craniosynostosis
OMIM:201000	RAB23	51715	HP:0000126	Hydronephrosis
OMIM:201000	RAB23	51715	HP:0000347	Micrognathia
OMIM:201000	RAB23	51715	HP:0000960	Sacral dimple
OMIM:201000	RAB23	51715	HP:0002700	Large foramen magnum
OMIM:201000	RAB23	51715	HP:0001643	Patent ductus arteriosus
OMIM:201000	RAB23	51715	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:201000	RAB23	51715	HP:0005280	Depressed nasal bridge
OMIM:201000	RAB23	51715	HP:0001249	Intellectual disability
OMIM:201000	RAB23	51715	HP:0001841	Preaxial foot polydactyly
OMIM:201000	RAB23	51715	HP:0007759	Opacification of the corneal stroma
OMIM:201000	RAB23	51715	HP:0009608	Complete duplication of proximal phalanx of the thumb
OMIM:201000	RAB23	51715	HP:0001642	Pulmonic stenosis
OMIM:201000	RAB23	51715	HP:0000286	Epicanthus
OMIM:201000	RAB23	51715	HP:0010275	Pseudoepiphyses of the proximal phalanges of the hand
OMIM:201000	RAB23	51715	HP:0000327	Hypoplasia of the maxilla
OMIM:201000	RAB23	51715	HP:0000506	Telecanthus
OMIM:201000	RAB23	51715	HP:0000248	Brachycephaly
OMIM:201000	RAB23	51715	HP:0001156	Brachydactyly syndrome
OMIM:201000	RAB23	51715	HP:0001636	Tetralogy of Fallot
OMIM:201000	RAB23	51715	HP:0003241	External genital hypoplasia
OMIM:201000	RAB23	51715	HP:0009473	Joint contracture of the hand
OMIM:201000	RAB23	51715	HP:0002059	Cerebral atrophy
OMIM:201000	RAB23	51715	HP:0000648	Optic atrophy
OMIM:201000	RAB23	51715	HP:0000272	Malar flattening
OMIM:201000	RAB23	51715	HP:0000369	Low-set ears
OMIM:201000	RAB23	51715	HP:0001840	Metatarsus adductus
OMIM:201000	RAB23	51715	HP:0000072	Hydroureter
OMIM:201000	RAB23	51715	HP:0000218	High palate
OMIM:201000	RAB23	51715	HP:0000826	Precocious puberty
OMIM:201000	RAB23	51715	HP:0002650	Scoliosis
OMIM:201000	RAB23	51715	HP:0004467	Preauricular pit
OMIM:201000	RAB23	51715	HP:0004443	Lambdoidal craniosynostosis
OMIM:201000	RAB23	51715	HP:0000482	Microcornea
OMIM:201000	RAB23	51715	HP:0001631	Atria septal defect
OMIM:201000	RAB23	51715	HP:0001162	Postaxial hand polydactyly
OMIM:201000	RAB23	51715	HP:0010093	Duplication of the proximal phalanx of the hallux
OMIM:201000	RAB23	51715	HP:0001537	Umbilical hernia
OMIM:201000	RAB23	51715	HP:0001748	Polysplenia
OMIM:201000	RAB23	51715	HP:0000028	Cryptorchidism
OMIM:201000	RAB23	51715	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:201000	RAB23	51715	HP:0001539	Omphalocele
OMIM:201000	RAB23	51715	HP:0004209	Clinodactyly of the 5th finger
OMIM:201000	RAB23	51715	HP:0011800	Hypoplasia of midface
OMIM:201000	RAB23	51715	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:201000	RAB23	51715	HP:0000007	Autosomal recessive inheritance
OMIM:201000	RAB23	51715	HP:0002857	Genu valgum
OMIM:201000	RAB23	51715	HP:0004440	Coronal craniosynostosis
OMIM:201000	RAB23	51715	HP:0000377	Abnormality of the pinna
OMIM:201000	RAB23	51715	HP:0001629	Ventricular septal defect
OMIM:201000	RAB23	51715	HP:0000407	Sensorineural hearing impairment
OMIM:201000	RAB23	51715	HP:0006349	Agenesis of permanent teeth
OMIM:201000	RAB23	51715	HP:0001669	Transposition of the great arteries
OMIM:201000	RAB23	51715	HP:0004322	Short stature
OMIM:550500	COX1	4512	HP:0008305	Exercise-induced myoglobinuria
OMIM:550500	COX1	4512	HP:0001427	Mitochondrial inheritance
OMIM:550500	COX3	4514	HP:0008305	Exercise-induced myoglobinuria
OMIM:550500	COX3	4514	HP:0001427	Mitochondrial inheritance
OMIM:550500	LPIN1	23175	HP:0008305	Exercise-induced myoglobinuria
OMIM:550500	LPIN1	23175	HP:0001427	Mitochondrial inheritance
OMIM:614832	SLC24A4	123041	HP:0000007	Autosomal recessive inheritance
OMIM:614832	MMP20	9313	HP:0000007	Autosomal recessive inheritance
OMIM:614832	C4ORF26	152816	HP:0000007	Autosomal recessive inheritance
OMIM:614832	KLK4	9622	HP:0000007	Autosomal recessive inheritance
OMIM:614832	AMELX	265	HP:0000007	Autosomal recessive inheritance
OMIM:614832	WDR72	256764	HP:0000007	Autosomal recessive inheritance
OMIM:249700	SHOX	6473	HP:0000174	Abnormality of the palate
OMIM:249700	SHOX	6473	HP:0002823	Abnormality of the femur
OMIM:249700	SHOX	6473	HP:0003022	Hypoplasia of the ulna
OMIM:249700	SHOX	6473	HP:0002983	Micromelia
OMIM:249700	SHOX	6473	HP:0000347	Micrognathia
OMIM:249700	SHOX	6473	HP:0003067	Madelung deformity
OMIM:249700	SHOX	6473	HP:0100864	Short femoral neck
OMIM:249700	SHOX	6473	HP:0002991	Abnormality of the fibula
OMIM:249700	SHOX	6473	HP:0009465	Ulnar deviation of finger
OMIM:249700	SHOX	6473	HP:0005930	Abnormality of epiphysis morphology
OMIM:249700	SHOX	6473	HP:0002984	Hypoplasia of the radius
OMIM:249700	SHOX	6473	HP:0002938	Lumbar hyperlordosis
OMIM:249700	SHOX	6473	HP:0000007	Autosomal recessive inheritance
OMIM:249700	SHOX	6473	HP:0004322	Short stature
OMIM:249700	SHOX	6473	HP:0002986	Radial bowing
OMIM:306000	PHKA2	5256	HP:0001946	Ketosis
OMIM:306000	PHKA2	5256	HP:0002910	Elevated hepatic transaminases
OMIM:306000	PHKA2	5256	HP:0001270	Motor delay
OMIM:306000	PHKA2	5256	HP:0001419	X-linked recessive inheritance
OMIM:306000	PHKA2	5256	HP:0003124	Hypercholesterolemia
OMIM:306000	PHKA2	5256	HP:0002155	Hypertriglyceridemia
OMIM:306000	PHKA2	5256	HP:0002240	Hepatomegaly
OMIM:306000	PHKA2	5256	HP:0001510	Growth delay
OMIM:306000	PHKA2	5256	HP:0001943	Hypoglycemia
OMIM:306000	PHKG2	5261	HP:0001946	Ketosis
OMIM:306000	PHKG2	5261	HP:0002910	Elevated hepatic transaminases
OMIM:306000	PHKG2	5261	HP:0001270	Motor delay
OMIM:306000	PHKG2	5261	HP:0001419	X-linked recessive inheritance
OMIM:306000	PHKG2	5261	HP:0003124	Hypercholesterolemia
OMIM:306000	PHKG2	5261	HP:0002155	Hypertriglyceridemia
OMIM:306000	PHKG2	5261	HP:0002240	Hepatomegaly
OMIM:306000	PHKG2	5261	HP:0001510	Growth delay
OMIM:306000	PHKG2	5261	HP:0001943	Hypoglycemia
OMIM:615237	CLMP	79827	HP:0001508	Failure to thrive
OMIM:615237	CLMP	79827	HP:0002566	Intestinal malrotation
OMIM:615237	CLMP	79827	HP:0002013	Vomiting
OMIM:615237	CLMP	79827	HP:0002570	Steatorrhea
OMIM:615237	CLMP	79827	HP:0002028	Chronic diarrhea
OMIM:615237	FLNA	2316	HP:0001508	Failure to thrive
OMIM:615237	FLNA	2316	HP:0002566	Intestinal malrotation
OMIM:615237	FLNA	2316	HP:0002013	Vomiting
OMIM:615237	FLNA	2316	HP:0002570	Steatorrhea
OMIM:615237	FLNA	2316	HP:0002028	Chronic diarrhea
OMIM:615342	SMAD9	4093	HP:0003676	Progressive
OMIM:615342	SMAD9	4093	HP:0003829	Incomplete penetrance
OMIM:615342	SMAD9	4093	HP:0000006	Autosomal dominant inheritance
OMIM:614727	TMEM165	55858	HP:0000939	Osteoporosis
OMIM:614727	TMEM165	55858	HP:0001250	Seizures
OMIM:614727	TMEM165	55858	HP:0004322	Short stature
OMIM:614727	TMEM165	55858	HP:0000272	Malar flattening
OMIM:614727	TMEM165	55858	HP:0001324	Muscle weakness
OMIM:614727	TMEM165	55858	HP:0001508	Failure to thrive
OMIM:614727	TMEM165	55858	HP:0001873	Thrombocytopenia
OMIM:614727	TMEM165	55858	HP:0000358	Posteriorly rotated ears
OMIM:614727	TMEM165	55858	HP:0000369	Low-set ears
OMIM:614727	TMEM165	55858	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614727	TMEM165	55858	HP:0002500	Abnormality of the cerebral white matter
OMIM:614727	TMEM165	55858	HP:0002910	Elevated hepatic transaminases
OMIM:614727	TMEM165	55858	HP:0100255	Metaphyseal dysplasia
OMIM:614727	TMEM165	55858	HP:0002240	Hepatomegaly
OMIM:614727	TMEM165	55858	HP:0011800	Hypoplasia of midface
OMIM:614727	TMEM165	55858	HP:0001252	Muscular hypotonia
OMIM:614727	TMEM165	55858	HP:0000007	Autosomal recessive inheritance
OMIM:614727	TMEM165	55858	HP:0003812	Phenotypic variability
OMIM:614727	TMEM165	55858	HP:0002751	Kyphoscoliosis
OMIM:614727	TMEM165	55858	HP:0001388	Joint laxity
OMIM:614727	TMEM165	55858	HP:0001263	Global developmental delay
OMIM:614727	TMEM165	55858	HP:0005484	Postnatal microcephaly
OMIM:236680	HYLS1	219844	HP:0000161	Median cleft lip
OMIM:236680	HYLS1	219844	HP:0001674	Complete atrioventricular canal defect
OMIM:236680	HYLS1	219844	HP:0001177	Preaxial hand polydactyly
OMIM:236680	HYLS1	219844	HP:0001629	Ventricular septal defect
OMIM:236680	HYLS1	219844	HP:0003826	Stillbirth
OMIM:236680	HYLS1	219844	HP:0000047	Hypospadias
OMIM:236680	HYLS1	219844	HP:0001274	Agenesis of corpus callosum
OMIM:236680	HYLS1	219844	HP:0000568	Microphthalmia
OMIM:236680	HYLS1	219844	HP:0001561	Polyhydramnios
OMIM:236680	HYLS1	219844	HP:0010066	Duplication of phalanx of hallux
OMIM:236680	HYLS1	219844	HP:0001511	Intrauterine growth retardation
OMIM:236680	HYLS1	219844	HP:0000142	Abnormality of the vagina
OMIM:236680	HYLS1	219844	HP:0002536	Abnormal cortical gyration
OMIM:236680	HYLS1	219844	HP:0000347	Micrognathia
OMIM:236680	HYLS1	219844	HP:0002282	Heterotopia
OMIM:236680	HYLS1	219844	HP:0002101	Abnormal lung lobation
OMIM:236680	HYLS1	219844	HP:0000175	Cleft palate
OMIM:236680	HYLS1	219844	HP:0000007	Autosomal recessive inheritance
OMIM:236680	HYLS1	219844	HP:0000369	Low-set ears
OMIM:236680	HYLS1	219844	HP:0002777	Tracheal stenosis
OMIM:236680	HYLS1	219844	HP:0001162	Postaxial hand polydactyly
OMIM:236680	HYLS1	219844	HP:0000377	Abnormality of the pinna
OMIM:236680	HYLS1	219844	HP:0009824	Upper limb undergrowth
OMIM:236680	HYLS1	219844	HP:0001539	Omphalocele
OMIM:236680	HYLS1	219844	HP:0001762	Talipes equinovarus
OMIM:236680	HYLS1	219844	HP:0000126	Hydronephrosis
OMIM:236680	HYLS1	219844	HP:0001305	Dandy-Walker malformation
OMIM:236680	KIF7	374654	HP:0000161	Median cleft lip
OMIM:236680	KIF7	374654	HP:0001674	Complete atrioventricular canal defect
OMIM:236680	KIF7	374654	HP:0001177	Preaxial hand polydactyly
OMIM:236680	KIF7	374654	HP:0001629	Ventricular septal defect
OMIM:236680	KIF7	374654	HP:0003826	Stillbirth
OMIM:236680	KIF7	374654	HP:0000047	Hypospadias
OMIM:236680	KIF7	374654	HP:0001274	Agenesis of corpus callosum
OMIM:236680	KIF7	374654	HP:0000568	Microphthalmia
OMIM:236680	KIF7	374654	HP:0001561	Polyhydramnios
OMIM:236680	KIF7	374654	HP:0010066	Duplication of phalanx of hallux
OMIM:236680	KIF7	374654	HP:0001511	Intrauterine growth retardation
OMIM:236680	KIF7	374654	HP:0000142	Abnormality of the vagina
OMIM:236680	KIF7	374654	HP:0002536	Abnormal cortical gyration
OMIM:236680	KIF7	374654	HP:0000347	Micrognathia
OMIM:236680	KIF7	374654	HP:0002282	Heterotopia
OMIM:236680	KIF7	374654	HP:0002101	Abnormal lung lobation
OMIM:236680	KIF7	374654	HP:0000175	Cleft palate
OMIM:236680	KIF7	374654	HP:0000007	Autosomal recessive inheritance
OMIM:236680	KIF7	374654	HP:0000369	Low-set ears
OMIM:236680	KIF7	374654	HP:0002777	Tracheal stenosis
OMIM:236680	KIF7	374654	HP:0001162	Postaxial hand polydactyly
OMIM:236680	KIF7	374654	HP:0000377	Abnormality of the pinna
OMIM:236680	KIF7	374654	HP:0009824	Upper limb undergrowth
OMIM:236680	KIF7	374654	HP:0001539	Omphalocele
OMIM:236680	KIF7	374654	HP:0001762	Talipes equinovarus
OMIM:236680	KIF7	374654	HP:0000126	Hydronephrosis
OMIM:236680	KIF7	374654	HP:0001305	Dandy-Walker malformation
OMIM:614871	PEX19	5824	HP:0001263	Global developmental delay
OMIM:614871	PEX19	5824	HP:0001761	Pes cavus
OMIM:614871	PEX19	5824	HP:0000639	Nystagmus
OMIM:614871	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX19	5824	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX19	5824	HP:0000556	Retinal dystrophy
OMIM:614871	PEX19	5824	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX19	5824	HP:0001265	Hyporeflexia
OMIM:614871	PEX19	5824	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX19	5824	HP:0001410	Decreased liver function
OMIM:614871	PEX19	5824	HP:0002936	Distal sensory impairment
OMIM:614871	PEX19	5824	HP:0000505	Visual impairment
OMIM:614871	PEX19	5824	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX19	5824	HP:0003693	Distal amyotrophy
OMIM:614871	PEX19	5824	HP:0001260	Dysarthria
OMIM:614871	PEX19	5824	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX19	5824	HP:0001251	Ataxia
OMIM:614871	PEX16	9409	HP:0001263	Global developmental delay
OMIM:614871	PEX16	9409	HP:0001761	Pes cavus
OMIM:614871	PEX16	9409	HP:0000639	Nystagmus
OMIM:614871	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX16	9409	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX16	9409	HP:0000556	Retinal dystrophy
OMIM:614871	PEX16	9409	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX16	9409	HP:0001265	Hyporeflexia
OMIM:614871	PEX16	9409	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX16	9409	HP:0001410	Decreased liver function
OMIM:614871	PEX16	9409	HP:0002936	Distal sensory impairment
OMIM:614871	PEX16	9409	HP:0000505	Visual impairment
OMIM:614871	PEX16	9409	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX16	9409	HP:0003693	Distal amyotrophy
OMIM:614871	PEX16	9409	HP:0001260	Dysarthria
OMIM:614871	PEX16	9409	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX16	9409	HP:0001251	Ataxia
OMIM:614871	PEX2	5828	HP:0001263	Global developmental delay
OMIM:614871	PEX2	5828	HP:0001761	Pes cavus
OMIM:614871	PEX2	5828	HP:0000639	Nystagmus
OMIM:614871	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX2	5828	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX2	5828	HP:0000556	Retinal dystrophy
OMIM:614871	PEX2	5828	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX2	5828	HP:0001265	Hyporeflexia
OMIM:614871	PEX2	5828	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX2	5828	HP:0001410	Decreased liver function
OMIM:614871	PEX2	5828	HP:0002936	Distal sensory impairment
OMIM:614871	PEX2	5828	HP:0000505	Visual impairment
OMIM:614871	PEX2	5828	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX2	5828	HP:0003693	Distal amyotrophy
OMIM:614871	PEX2	5828	HP:0001260	Dysarthria
OMIM:614871	PEX2	5828	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX2	5828	HP:0001251	Ataxia
OMIM:614871	PEX1	5189	HP:0001263	Global developmental delay
OMIM:614871	PEX1	5189	HP:0001761	Pes cavus
OMIM:614871	PEX1	5189	HP:0000639	Nystagmus
OMIM:614871	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX1	5189	HP:0000556	Retinal dystrophy
OMIM:614871	PEX1	5189	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX1	5189	HP:0001265	Hyporeflexia
OMIM:614871	PEX1	5189	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX1	5189	HP:0001410	Decreased liver function
OMIM:614871	PEX1	5189	HP:0002936	Distal sensory impairment
OMIM:614871	PEX1	5189	HP:0000505	Visual impairment
OMIM:614871	PEX1	5189	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX1	5189	HP:0003693	Distal amyotrophy
OMIM:614871	PEX1	5189	HP:0001260	Dysarthria
OMIM:614871	PEX1	5189	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX1	5189	HP:0001251	Ataxia
OMIM:614871	PEX5	5830	HP:0001263	Global developmental delay
OMIM:614871	PEX5	5830	HP:0001761	Pes cavus
OMIM:614871	PEX5	5830	HP:0000639	Nystagmus
OMIM:614871	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX5	5830	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX5	5830	HP:0000556	Retinal dystrophy
OMIM:614871	PEX5	5830	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX5	5830	HP:0001265	Hyporeflexia
OMIM:614871	PEX5	5830	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX5	5830	HP:0001410	Decreased liver function
OMIM:614871	PEX5	5830	HP:0002936	Distal sensory impairment
OMIM:614871	PEX5	5830	HP:0000505	Visual impairment
OMIM:614871	PEX5	5830	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX5	5830	HP:0003693	Distal amyotrophy
OMIM:614871	PEX5	5830	HP:0001260	Dysarthria
OMIM:614871	PEX5	5830	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX5	5830	HP:0001251	Ataxia
OMIM:614871	PEX6	5190	HP:0001263	Global developmental delay
OMIM:614871	PEX6	5190	HP:0001761	Pes cavus
OMIM:614871	PEX6	5190	HP:0000639	Nystagmus
OMIM:614871	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX6	5190	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX6	5190	HP:0000556	Retinal dystrophy
OMIM:614871	PEX6	5190	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX6	5190	HP:0001265	Hyporeflexia
OMIM:614871	PEX6	5190	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX6	5190	HP:0001410	Decreased liver function
OMIM:614871	PEX6	5190	HP:0002936	Distal sensory impairment
OMIM:614871	PEX6	5190	HP:0000505	Visual impairment
OMIM:614871	PEX6	5190	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX6	5190	HP:0003693	Distal amyotrophy
OMIM:614871	PEX6	5190	HP:0001260	Dysarthria
OMIM:614871	PEX6	5190	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX6	5190	HP:0001251	Ataxia
OMIM:614871	PEX10	5192	HP:0001263	Global developmental delay
OMIM:614871	PEX10	5192	HP:0001761	Pes cavus
OMIM:614871	PEX10	5192	HP:0000639	Nystagmus
OMIM:614871	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX10	5192	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX10	5192	HP:0000556	Retinal dystrophy
OMIM:614871	PEX10	5192	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX10	5192	HP:0001265	Hyporeflexia
OMIM:614871	PEX10	5192	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX10	5192	HP:0001410	Decreased liver function
OMIM:614871	PEX10	5192	HP:0002936	Distal sensory impairment
OMIM:614871	PEX10	5192	HP:0000505	Visual impairment
OMIM:614871	PEX10	5192	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX10	5192	HP:0003693	Distal amyotrophy
OMIM:614871	PEX10	5192	HP:0001260	Dysarthria
OMIM:614871	PEX10	5192	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX10	5192	HP:0001251	Ataxia
OMIM:614871	PEX12	5193	HP:0001263	Global developmental delay
OMIM:614871	PEX12	5193	HP:0001761	Pes cavus
OMIM:614871	PEX12	5193	HP:0000639	Nystagmus
OMIM:614871	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX12	5193	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX12	5193	HP:0000556	Retinal dystrophy
OMIM:614871	PEX12	5193	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX12	5193	HP:0001265	Hyporeflexia
OMIM:614871	PEX12	5193	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX12	5193	HP:0001410	Decreased liver function
OMIM:614871	PEX12	5193	HP:0002936	Distal sensory impairment
OMIM:614871	PEX12	5193	HP:0000505	Visual impairment
OMIM:614871	PEX12	5193	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX12	5193	HP:0003693	Distal amyotrophy
OMIM:614871	PEX12	5193	HP:0001260	Dysarthria
OMIM:614871	PEX12	5193	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX12	5193	HP:0001251	Ataxia
OMIM:614871	PEX13	5194	HP:0001263	Global developmental delay
OMIM:614871	PEX13	5194	HP:0001761	Pes cavus
OMIM:614871	PEX13	5194	HP:0000639	Nystagmus
OMIM:614871	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX13	5194	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX13	5194	HP:0000556	Retinal dystrophy
OMIM:614871	PEX13	5194	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX13	5194	HP:0001265	Hyporeflexia
OMIM:614871	PEX13	5194	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX13	5194	HP:0001410	Decreased liver function
OMIM:614871	PEX13	5194	HP:0002936	Distal sensory impairment
OMIM:614871	PEX13	5194	HP:0000505	Visual impairment
OMIM:614871	PEX13	5194	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX13	5194	HP:0003693	Distal amyotrophy
OMIM:614871	PEX13	5194	HP:0001260	Dysarthria
OMIM:614871	PEX13	5194	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX13	5194	HP:0001251	Ataxia
OMIM:614871	PEX14	5195	HP:0001263	Global developmental delay
OMIM:614871	PEX14	5195	HP:0001761	Pes cavus
OMIM:614871	PEX14	5195	HP:0000639	Nystagmus
OMIM:614871	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX14	5195	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX14	5195	HP:0000556	Retinal dystrophy
OMIM:614871	PEX14	5195	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX14	5195	HP:0001265	Hyporeflexia
OMIM:614871	PEX14	5195	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX14	5195	HP:0001410	Decreased liver function
OMIM:614871	PEX14	5195	HP:0002936	Distal sensory impairment
OMIM:614871	PEX14	5195	HP:0000505	Visual impairment
OMIM:614871	PEX14	5195	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX14	5195	HP:0003693	Distal amyotrophy
OMIM:614871	PEX14	5195	HP:0001260	Dysarthria
OMIM:614871	PEX14	5195	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX14	5195	HP:0001251	Ataxia
OMIM:614871	PEX26	55670	HP:0001263	Global developmental delay
OMIM:614871	PEX26	55670	HP:0001761	Pes cavus
OMIM:614871	PEX26	55670	HP:0000639	Nystagmus
OMIM:614871	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX26	55670	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX26	55670	HP:0000556	Retinal dystrophy
OMIM:614871	PEX26	55670	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX26	55670	HP:0001265	Hyporeflexia
OMIM:614871	PEX26	55670	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX26	55670	HP:0001410	Decreased liver function
OMIM:614871	PEX26	55670	HP:0002936	Distal sensory impairment
OMIM:614871	PEX26	55670	HP:0000505	Visual impairment
OMIM:614871	PEX26	55670	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX26	55670	HP:0003693	Distal amyotrophy
OMIM:614871	PEX26	55670	HP:0001260	Dysarthria
OMIM:614871	PEX26	55670	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX26	55670	HP:0001251	Ataxia
OMIM:614871	PEX3	8504	HP:0001263	Global developmental delay
OMIM:614871	PEX3	8504	HP:0001761	Pes cavus
OMIM:614871	PEX3	8504	HP:0000639	Nystagmus
OMIM:614871	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX3	8504	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX3	8504	HP:0000556	Retinal dystrophy
OMIM:614871	PEX3	8504	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX3	8504	HP:0001265	Hyporeflexia
OMIM:614871	PEX3	8504	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX3	8504	HP:0001410	Decreased liver function
OMIM:614871	PEX3	8504	HP:0002936	Distal sensory impairment
OMIM:614871	PEX3	8504	HP:0000505	Visual impairment
OMIM:614871	PEX3	8504	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX3	8504	HP:0003693	Distal amyotrophy
OMIM:614871	PEX3	8504	HP:0001260	Dysarthria
OMIM:614871	PEX3	8504	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX3	8504	HP:0001251	Ataxia
OMIM:614871	PEX11B	8799	HP:0001263	Global developmental delay
OMIM:614871	PEX11B	8799	HP:0001761	Pes cavus
OMIM:614871	PEX11B	8799	HP:0000639	Nystagmus
OMIM:614871	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614871	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
OMIM:614871	PEX11B	8799	HP:0000556	Retinal dystrophy
OMIM:614871	PEX11B	8799	HP:0002500	Abnormality of the cerebral white matter
OMIM:614871	PEX11B	8799	HP:0001265	Hyporeflexia
OMIM:614871	PEX11B	8799	HP:0007772	Impaired smooth pursuit
OMIM:614871	PEX11B	8799	HP:0001410	Decreased liver function
OMIM:614871	PEX11B	8799	HP:0002936	Distal sensory impairment
OMIM:614871	PEX11B	8799	HP:0000505	Visual impairment
OMIM:614871	PEX11B	8799	HP:0001319	Neonatal hypotonia
OMIM:614871	PEX11B	8799	HP:0003693	Distal amyotrophy
OMIM:614871	PEX11B	8799	HP:0001260	Dysarthria
OMIM:614871	PEX11B	8799	HP:0001272	Cerebellar atrophy
OMIM:614871	PEX11B	8799	HP:0001251	Ataxia
OMIM:615465	FGFR1	2260	HP:0000204	Cleft upper lip
OMIM:615465	FGFR1	2260	HP:0000316	Hypertelorism
OMIM:615465	FGFR1	2260	HP:0000175	Cleft palate
OMIM:615465	FGFR1	2260	HP:0000508	Ptosis
OMIM:615465	FGFR1	2260	HP:0002093	Respiratory insufficiency
OMIM:615465	FGFR1	2260	HP:0001360	Holoprosencephaly
OMIM:615465	FGFR1	2260	HP:0001263	Global developmental delay
OMIM:615465	FGFR1	2260	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:615465	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:615465	FGFR1	2260	HP:0000054	Micropenis
OMIM:615465	FGFR1	2260	HP:0001159	Syndactyly
OMIM:615465	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:615465	FGFR1	2260	HP:0001274	Agenesis of corpus callosum
OMIM:615465	FGFR1	2260	HP:0000368	Low-set, posteriorly rotated ears
OMIM:615465	FGFR1	2260	HP:0001363	Craniosynostosis
OMIM:615465	FGFR1	2260	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:615465	FGFR1	2260	HP:0001171	Split hand
OMIM:615465	FGFR1	2260	HP:0005280	Depressed nasal bridge
OMIM:615465	FGFR1	2260	HP:0004408	Abnormality of the sense of smell
OMIM:615465	FGFR1	2260	HP:0001511	Intrauterine growth retardation
OMIM:615465	FGFR1	2260	HP:0000286	Epicanthus
OMIM:615465	FGFR1	2260	HP:0000494	Downslanted palpebral fissures
OMIM:615465	FGFR1	2260	HP:0001319	Neonatal hypotonia
OMIM:615465	FGFR1	2260	HP:0100335	Non-midline cleft lip
OMIM:615465	FGFR1	2260	HP:0100257	Ectrodactyly
OMIM:615465	FGFR1	2260	HP:0000252	Microcephaly
OMIM:615465	FGFR1	2260	HP:0000601	Hypotelorism
OMIM:615465	FGFR1	2260	HP:0000506	Telecanthus
OMIM:615465	FGFR1	2260	HP:0000873	Diabetes insipidus
OMIM:615465	FGFR1	2260	HP:0000445	Wide nose
OMIM:615465	FGFR1	2260	HP:0000358	Posteriorly rotated ears
OMIM:615465	FGFR1	2260	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:615465	FGFR1	2260	HP:0000047	Hypospadias
OMIM:615465	FGFR1	2260	HP:0000369	Low-set ears
OMIM:615465	FGFR1	2260	HP:0002084	Encephalocele
OMIM:160900	DMPK	1760	HP:0003202	Skeletal muscle atrophy
OMIM:160900	DMPK	1760	HP:0001252	Muscular hypotonia
OMIM:160900	DMPK	1760	HP:0100543	Cognitive impairment
OMIM:160900	DMPK	1760	HP:0000006	Autosomal dominant inheritance
OMIM:160900	DMPK	1760	HP:0001561	Polyhydramnios
OMIM:160900	DMPK	1760	HP:0002059	Cerebral atrophy
OMIM:160900	DMPK	1760	HP:0000135	Hypogonadism
OMIM:160900	DMPK	1760	HP:0000028	Cryptorchidism
OMIM:160900	DMPK	1760	HP:0000238	Hydrocephalus
OMIM:160900	DMPK	1760	HP:0001276	Hypertonia
OMIM:160900	DMPK	1760	HP:0011705	First degree atrioventricular block
OMIM:160900	DMPK	1760	HP:0100335	Non-midline cleft lip
OMIM:160900	DMPK	1760	HP:0000518	Cataract
OMIM:160900	DMPK	1760	HP:0002015	Dysphagia
OMIM:160900	DMPK	1760	HP:0004299	Hernia of the abdominal wall
OMIM:160900	DMPK	1760	HP:0002098	Respiratory distress
OMIM:160900	DMPK	1760	HP:0011362	Abnormal hair quantity
OMIM:160900	DMPK	1760	HP:0000486	Strabismus
OMIM:160900	DMPK	1760	HP:0000298	Mask-like facies
OMIM:160900	DMPK	1760	HP:0004749	Atrial flutter
OMIM:160900	DMPK	1760	HP:0005110	Atrial fibrillation
OMIM:160900	DMPK	1760	HP:0008872	Feeding difficulties in infancy
OMIM:160900	DMPK	1760	HP:0008770	Obsessive-compulsive trait
OMIM:160900	DMPK	1760	HP:0001558	Decreased fetal movement
OMIM:160900	DMPK	1760	HP:0006887	Intellectual disability, progressive
OMIM:160900	DMPK	1760	HP:0002093	Respiratory insufficiency
OMIM:160900	DMPK	1760	HP:0003272	Abnormality of the hip bone
OMIM:160900	DMPK	1760	HP:0010864	Intellectual disability, severe
OMIM:160900	DMPK	1760	HP:0010935	Abnormality of the upper urinary tract
OMIM:160900	DMPK	1760	HP:0011675	Arrhythmia
OMIM:160900	DMPK	1760	HP:0003457	EMG abnormality
OMIM:160900	DMPK	1760	HP:0000818	Abnormality of the endocrine system
OMIM:160900	DMPK	1760	HP:0001081	Cholelithiasis
OMIM:160900	DMPK	1760	HP:0002189	Excessive daytime sleepiness
OMIM:160900	DMPK	1760	HP:0010628	Facial palsy
OMIM:610220	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:610220	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:610220	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:610220	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:610220	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:610220	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:610220	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:610220	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:610220	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:610220	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:610220	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:610220	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:610220	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:610220	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:610220	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:610220	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:610220	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:610220	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:610220	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:610220	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:610220	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:610220	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:610220	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:610220	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:610220	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:610220	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:610220	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:610220	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:610220	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:610220	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:610220	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:610220	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:610220	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:610220	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:610220	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:610220	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:610220	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:610220	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:610220	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:610220	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:610220	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:610220	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:610220	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:610220	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:610220	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:610220	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:610220	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:610220	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:610220	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:610220	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:610220	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:610220	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:610220	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:610220	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:610220	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:610220	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:610220	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:610220	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:610220	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:610220	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:610220	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:610220	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:610220	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:610220	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:610220	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:610220	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:610220	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:610220	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:610220	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:610220	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:610220	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:610220	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:610220	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:610220	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:610220	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:610220	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:610220	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:610220	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:610220	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:610220	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:610220	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:610220	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:610220	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:610220	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:610220	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:610220	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:610220	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:610220	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:610220	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:610220	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:610220	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:610220	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:610220	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:610220	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:610220	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:610220	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:610220	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:610220	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:610220	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:610220	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:610220	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:610220	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:610220	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:610220	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:610220	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:610220	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:610220	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:610220	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:610220	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:610220	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:610220	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:610220	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:610220	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:610220	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:610220	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:610220	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:610220	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:610220	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:610220	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:610220	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:611490	CLCN7	1186	HP:0002757	Recurrent fractures
OMIM:611490	CLCN7	1186	HP:0001903	Anemia
OMIM:611490	CLCN7	1186	HP:0001923	Reticulocytosis
OMIM:611490	CLCN7	1186	HP:0000007	Autosomal recessive inheritance
OMIM:611490	CLCN7	1186	HP:0001433	Hepatosplenomegaly
OMIM:611490	CLCN7	1186	HP:0010628	Facial palsy
OMIM:611490	TCIRG1	10312	HP:0002757	Recurrent fractures
OMIM:611490	TCIRG1	10312	HP:0001903	Anemia
OMIM:611490	TCIRG1	10312	HP:0001923	Reticulocytosis
OMIM:611490	TCIRG1	10312	HP:0000007	Autosomal recessive inheritance
OMIM:611490	TCIRG1	10312	HP:0001433	Hepatosplenomegaly
OMIM:611490	TCIRG1	10312	HP:0010628	Facial palsy
OMIM:611490	TNFSF11	8600	HP:0002757	Recurrent fractures
OMIM:611490	TNFSF11	8600	HP:0001903	Anemia
OMIM:611490	TNFSF11	8600	HP:0001923	Reticulocytosis
OMIM:611490	TNFSF11	8600	HP:0000007	Autosomal recessive inheritance
OMIM:611490	TNFSF11	8600	HP:0001433	Hepatosplenomegaly
OMIM:611490	TNFSF11	8600	HP:0010628	Facial palsy
OMIM:611490	SNX10	29887	HP:0002757	Recurrent fractures
OMIM:611490	SNX10	29887	HP:0001903	Anemia
OMIM:611490	SNX10	29887	HP:0001923	Reticulocytosis
OMIM:611490	SNX10	29887	HP:0000007	Autosomal recessive inheritance
OMIM:611490	SNX10	29887	HP:0001433	Hepatosplenomegaly
OMIM:611490	SNX10	29887	HP:0010628	Facial palsy
OMIM:252250	IL17RC	84818	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:252250	IL17RC	84818	HP:0002965	Cutaneous anergy
OMIM:252250	IL17RC	84818	HP:0000007	Autosomal recessive inheritance
OMIM:252250	STAT1	6772	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:252250	STAT1	6772	HP:0002965	Cutaneous anergy
OMIM:252250	STAT1	6772	HP:0000007	Autosomal recessive inheritance
OMIM:252250	CLEC7A	64581	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:252250	CLEC7A	64581	HP:0002965	Cutaneous anergy
OMIM:252250	CLEC7A	64581	HP:0000007	Autosomal recessive inheritance
OMIM:252250	IL17RA	23765	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:252250	IL17RA	23765	HP:0002965	Cutaneous anergy
OMIM:252250	IL17RA	23765	HP:0000007	Autosomal recessive inheritance
OMIM:252250	TRAF3IP2	10758	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:252250	TRAF3IP2	10758	HP:0002965	Cutaneous anergy
OMIM:252250	TRAF3IP2	10758	HP:0000007	Autosomal recessive inheritance
OMIM:252250	IL17F	112744	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:252250	IL17F	112744	HP:0002965	Cutaneous anergy
OMIM:252250	IL17F	112744	HP:0000007	Autosomal recessive inheritance
OMIM:252250	CARD9	64170	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:252250	CARD9	64170	HP:0002965	Cutaneous anergy
OMIM:252250	CARD9	64170	HP:0000007	Autosomal recessive inheritance
ORPHANET:51	SAMHD1	25939	HP:0000508	Ptosis
ORPHANET:51	SAMHD1	25939	HP:0100543	Cognitive impairment
ORPHANET:51	SAMHD1	25939	HP:0000252	Microcephaly
ORPHANET:51	SAMHD1	25939	HP:0001276	Hypertonia
ORPHANET:51	SAMHD1	25939	HP:0001250	Seizures
ORPHANET:51	SAMHD1	25939	HP:0001357	Plagiocephaly
ORPHANET:51	SAMHD1	25939	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:51	SAMHD1	25939	HP:0000625	Cleft eyelid
ORPHANET:51	SAMHD1	25939	HP:0002132	Porencephaly
ORPHANET:51	SAMHD1	25939	HP:0001360	Holoprosencephaly
ORPHANET:51	RNASEH2B	79621	HP:0000508	Ptosis
ORPHANET:51	RNASEH2B	79621	HP:0100543	Cognitive impairment
ORPHANET:51	RNASEH2B	79621	HP:0000252	Microcephaly
ORPHANET:51	RNASEH2B	79621	HP:0001276	Hypertonia
ORPHANET:51	RNASEH2B	79621	HP:0001250	Seizures
ORPHANET:51	RNASEH2B	79621	HP:0001357	Plagiocephaly
ORPHANET:51	RNASEH2B	79621	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:51	RNASEH2B	79621	HP:0000625	Cleft eyelid
ORPHANET:51	RNASEH2B	79621	HP:0002132	Porencephaly
ORPHANET:51	RNASEH2B	79621	HP:0001360	Holoprosencephaly
ORPHANET:51	RNASEH2A	10535	HP:0000508	Ptosis
ORPHANET:51	RNASEH2A	10535	HP:0100543	Cognitive impairment
ORPHANET:51	RNASEH2A	10535	HP:0000252	Microcephaly
ORPHANET:51	RNASEH2A	10535	HP:0001276	Hypertonia
ORPHANET:51	RNASEH2A	10535	HP:0001250	Seizures
ORPHANET:51	RNASEH2A	10535	HP:0001357	Plagiocephaly
ORPHANET:51	RNASEH2A	10535	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:51	RNASEH2A	10535	HP:0000625	Cleft eyelid
ORPHANET:51	RNASEH2A	10535	HP:0002132	Porencephaly
ORPHANET:51	RNASEH2A	10535	HP:0001360	Holoprosencephaly
ORPHANET:51	ADAR	103	HP:0000508	Ptosis
ORPHANET:51	ADAR	103	HP:0100543	Cognitive impairment
ORPHANET:51	ADAR	103	HP:0000252	Microcephaly
ORPHANET:51	ADAR	103	HP:0001276	Hypertonia
ORPHANET:51	ADAR	103	HP:0001250	Seizures
ORPHANET:51	ADAR	103	HP:0001357	Plagiocephaly
ORPHANET:51	ADAR	103	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:51	ADAR	103	HP:0000625	Cleft eyelid
ORPHANET:51	ADAR	103	HP:0002132	Porencephaly
ORPHANET:51	ADAR	103	HP:0001360	Holoprosencephaly
ORPHANET:51	IFIH1	64135	HP:0000508	Ptosis
ORPHANET:51	IFIH1	64135	HP:0100543	Cognitive impairment
ORPHANET:51	IFIH1	64135	HP:0000252	Microcephaly
ORPHANET:51	IFIH1	64135	HP:0001276	Hypertonia
ORPHANET:51	IFIH1	64135	HP:0001250	Seizures
ORPHANET:51	IFIH1	64135	HP:0001357	Plagiocephaly
ORPHANET:51	IFIH1	64135	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:51	IFIH1	64135	HP:0000625	Cleft eyelid
ORPHANET:51	IFIH1	64135	HP:0002132	Porencephaly
ORPHANET:51	IFIH1	64135	HP:0001360	Holoprosencephaly
ORPHANET:51	RNASEH2C	84153	HP:0000508	Ptosis
ORPHANET:51	RNASEH2C	84153	HP:0100543	Cognitive impairment
ORPHANET:51	RNASEH2C	84153	HP:0000252	Microcephaly
ORPHANET:51	RNASEH2C	84153	HP:0001276	Hypertonia
ORPHANET:51	RNASEH2C	84153	HP:0001250	Seizures
ORPHANET:51	RNASEH2C	84153	HP:0001357	Plagiocephaly
ORPHANET:51	RNASEH2C	84153	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:51	RNASEH2C	84153	HP:0000625	Cleft eyelid
ORPHANET:51	RNASEH2C	84153	HP:0002132	Porencephaly
ORPHANET:51	RNASEH2C	84153	HP:0001360	Holoprosencephaly
ORPHANET:51	TREX1	11277	HP:0000508	Ptosis
ORPHANET:51	TREX1	11277	HP:0100543	Cognitive impairment
ORPHANET:51	TREX1	11277	HP:0000252	Microcephaly
ORPHANET:51	TREX1	11277	HP:0001276	Hypertonia
ORPHANET:51	TREX1	11277	HP:0001250	Seizures
ORPHANET:51	TREX1	11277	HP:0001357	Plagiocephaly
ORPHANET:51	TREX1	11277	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:51	TREX1	11277	HP:0000625	Cleft eyelid
ORPHANET:51	TREX1	11277	HP:0002132	Porencephaly
ORPHANET:51	TREX1	11277	HP:0001360	Holoprosencephaly
OMIM:615244	ARHGDIA	396	HP:0003678	Rapidly progressive
OMIM:615244	ARHGDIA	396	HP:0000007	Autosomal recessive inheritance
OMIM:615244	ARHGDIA	396	HP:0012622	Chronic kidney disease
OMIM:615244	ARHGDIA	396	HP:0003623	Neonatal onset
OMIM:615244	ARHGDIA	396	HP:0000100	Nephrotic syndrome
OMIM:615244	ARHGDIA	396	HP:0000093	Proteinuria
OMIM:615244	ARHGDIA	396	HP:0000969	Edema
OMIM:615244	ARHGDIA	396	HP:0003073	Hypoalbuminemia
OMIM:245900	LCAT	3931	HP:0002155	Hypertriglyceridemia
OMIM:245900	LCAT	3931	HP:0000007	Autosomal recessive inheritance
OMIM:245900	LCAT	3931	HP:0007759	Opacification of the corneal stroma
OMIM:245900	LCAT	3931	HP:0000093	Proteinuria
OMIM:245900	LCAT	3931	HP:0000083	Renal insufficiency
OMIM:245900	LCAT	3931	HP:0001878	Hemolytic anemia
OMIM:245900	LCAT	3931	HP:0003233	Hypoalphalipoproteinemia
OMIM:220120	GLYCTK	132158	HP:0012448	Delayed myelination
OMIM:220120	GLYCTK	132158	HP:0001263	Global developmental delay
OMIM:220120	GLYCTK	132158	HP:0001249	Intellectual disability
OMIM:220120	GLYCTK	132158	HP:0001250	Seizures
OMIM:220120	GLYCTK	132158	HP:0003355	Aminoaciduria
OMIM:220120	GLYCTK	132158	HP:0001336	Myoclonus
OMIM:220120	GLYCTK	132158	HP:0000407	Sensorineural hearing impairment
OMIM:220120	GLYCTK	132158	HP:0001319	Neonatal hypotonia
OMIM:220120	GLYCTK	132158	HP:0001347	Hyperreflexia
OMIM:220120	GLYCTK	132158	HP:0001510	Growth delay
OMIM:220120	GLYCTK	132158	HP:0001298	Encephalopathy
OMIM:220120	GLYCTK	132158	HP:0001942	Metabolic acidosis
OMIM:220120	GLYCTK	132158	HP:0002510	Spastic tetraplegia
OMIM:220120	GLYCTK	132158	HP:0000252	Microcephaly
OMIM:220120	GLYCTK	132158	HP:0002179	Opisthotonus
OMIM:220120	GLYCTK	132158	HP:0002521	Hypsarrhythmia
OMIM:220120	GLYCTK	132158	HP:0000007	Autosomal recessive inheritance
OMIM:220120	GLYCTK	132158	HP:0008936	Muscular hypotonia of the trunk
OMIM:220120	GLYCTK	132158	HP:0003812	Phenotypic variability
OMIM:220120	GLYCTK	132158	HP:0001508	Failure to thrive
OMIM:220120	GLYCTK	132158	HP:0002120	Cerebral cortical atrophy
OMIM:616098	BCL10	8915	HP:0001250	Seizures
OMIM:616098	BCL10	8915	HP:0002719	Recurrent infections
OMIM:616098	BCL10	8915	HP:0004313	Decreased antibody level in blood
OMIM:616098	BCL10	8915	HP:0002721	Immunodeficiency
OMIM:616098	BCL10	8915	HP:0002383	Encephalitis
OMIM:615972	MFRP	83552	HP:0007663	Reduced visual acuity
OMIM:615972	MFRP	83552	HP:0000505	Visual impairment
OMIM:615972	MFRP	83552	HP:0000568	Microphthalmia
OMIM:615972	TMEM98	26022	HP:0007663	Reduced visual acuity
OMIM:615972	TMEM98	26022	HP:0000505	Visual impairment
OMIM:615972	TMEM98	26022	HP:0000568	Microphthalmia
OMIM:608363	TBX1	6899	HP:0000377	Abnormality of the pinna
OMIM:608363	TBX1	6899	HP:0001252	Muscular hypotonia
OMIM:608363	TBX1	6899	HP:0000508	Ptosis
OMIM:608363	TBX1	6899	HP:0000316	Hypertelorism
OMIM:608363	TBX1	6899	HP:0000494	Downslanted palpebral fissures
OMIM:608363	TBX1	6899	HP:0001608	Abnormality of the voice
OMIM:608363	TBX1	6899	HP:0000220	Velopharyngeal insufficiency
OMIM:608363	TBX1	6899	HP:0001510	Growth delay
OMIM:608363	TBX1	6899	HP:0001636	Tetralogy of Fallot
OMIM:608363	TBX1	6899	HP:0000006	Autosomal dominant inheritance
OMIM:608363	TBX1	6899	HP:0003745	Sporadic
OMIM:608363	TBX1	6899	HP:0000272	Malar flattening
OMIM:608363	TBX1	6899	HP:0000252	Microcephaly
OMIM:608363	TBX1	6899	HP:0000286	Epicanthus
OMIM:608363	TBX1	6899	HP:0000750	Delayed speech and language development
OMIM:608363	TBX1	6899	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:608363	TBX1	6899	HP:0001263	Global developmental delay
OMIM:608363	TBX1	6899	HP:0000175	Cleft palate
OMIM:608363	TBX1	6899	HP:0001249	Intellectual disability
OMIM:608363	TBX1	6899	HP:0100627	Displacement of the external urethral meatus
OMIM:608363	TBX1	6899	HP:0002167	Neurological speech impairment
OMIM:608363	TBX1	6899	HP:0000275	Narrow face
OMIM:608363	TBX1	6899	HP:0010935	Abnormality of the upper urinary tract
OMIM:608363	TBX1	6899	HP:0005105	Abnormal nasal morphology
OMIM:608363	TBX1	6899	HP:0000365	Hearing impairment
OMIM:608363	TBX1	6899	HP:0000348	High forehead
OMIM:608363	TBX1	6899	HP:0000600	Abnormality of the pharynx
OMIM:608363	TBX1	6899	HP:0000218	High palate
OMIM:608363	TBX1	6899	HP:0001250	Seizures
OMIM:608363	TBX1	6899	HP:0001669	Transposition of the great arteries
OMIM:608363	TBX1	6899	HP:0000733	Stereotypic behavior
OMIM:608363	TBX1	6899	HP:0000717	Autism
OMIM:608363	TBX1	6899	HP:0004383	Hypoplastic left heart
OMIM:608363	TBX1	6899	HP:0001629	Ventricular septal defect
OMIM:608363	TBX1	6899	HP:0010515	Aplasia/Hypoplasia of the thymus
OMIM:608363	TBX1	6899	HP:0000722	Obsessive-compulsive behavior
OMIM:608363	TBX1	6899	HP:0001328	Specific learning disability
OMIM:608363	TBX1	6899	HP:0010978	Abnormality of immune system physiology
OMIM:608363	TBX1	6899	HP:0000347	Micrognathia
OMIM:608363	TBX1	6899	HP:0002650	Scoliosis
OMIM:608363	TBX1	6899	HP:0000369	Low-set ears
OMIM:608363	TBX1	6899	HP:0001679	Abnormality of the aorta
OMIM:608363	TBX1	6899	HP:0000288	Abnormality of the philtrum
OMIM:608363	TBX1	6899	HP:0000457	Depressed nasal ridge
OMIM:608363	TBX1	6899	HP:0009908	Anterior creases of earlobe
OMIM:608363	TBX1	6899	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608363	TBX1	6899	HP:0100543	Cognitive impairment
OMIM:608363	TBX1	6899	HP:0001611	Nasal speech
OMIM:608363	TBX1	6899	HP:0002916	Abnormality of chromosome segregation
OMIM:144700	FHIT	2272	HP:0003745	Sporadic
OMIM:144700	VHL	7428	HP:0003745	Sporadic
OMIM:144700	RNF139	11236	HP:0003745	Sporadic
OMIM:144700	DIRC3	729582	HP:0003745	Sporadic
OMIM:144700	OGG1	4968	HP:0003745	Sporadic
OMIM:144700	FLCN	201163	HP:0003745	Sporadic
OMIM:144700	DIRC2	84925	HP:0003745	Sporadic
OMIM:144700	HSPBAP1	79663	HP:0003745	Sporadic
OMIM:144700	HNF1A	6927	HP:0003745	Sporadic
OMIM:251110	MMAB	326625	HP:0003623	Neonatal onset
OMIM:251110	MMAB	326625	HP:0002240	Hepatomegaly
OMIM:251110	MMAB	326625	HP:0002013	Vomiting
OMIM:251110	MMAB	326625	HP:0001252	Muscular hypotonia
OMIM:251110	MMAB	326625	HP:0012120	Methylmalonic aciduria
OMIM:251110	MMAB	326625	HP:0001873	Thrombocytopenia
OMIM:251110	MMAB	326625	HP:0001254	Lethargy
OMIM:251110	MMAB	326625	HP:0001944	Dehydration
OMIM:251110	MMAB	326625	HP:0002154	Hyperglycinemia
OMIM:251110	MMAB	326625	HP:0001259	Coma
OMIM:251110	MMAB	326625	HP:0001942	Metabolic acidosis
OMIM:251110	MMAB	326625	HP:0001987	Hyperammonemia
OMIM:251110	MMAB	326625	HP:0001263	Global developmental delay
OMIM:251110	MMAB	326625	HP:0002098	Respiratory distress
OMIM:251110	MMAB	326625	HP:0000007	Autosomal recessive inheritance
OMIM:251110	MMAB	326625	HP:0002919	Ketonuria
OMIM:251110	MMAB	326625	HP:0002912	Methylmalonic acidemia
OMIM:251110	MMAB	326625	HP:0001875	Neutropenia
OMIM:251110	MMAB	326625	HP:0008872	Feeding difficulties in infancy
OMIM:251110	MMAB	326625	HP:0001508	Failure to thrive
OMIM:251110	MMAB	326625	HP:0001903	Anemia
OMIM:251110	MMAB	326625	HP:0001946	Ketosis
OMIM:251110	MMAB	326625	HP:0001876	Pancytopenia
OMIM:612577	TREM2	54209	HP:0003202	Skeletal muscle atrophy
OMIM:612577	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:612577	TREM2	54209	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	VAPB	9217	HP:0003202	Skeletal muscle atrophy
OMIM:612577	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:612577	VAPB	9217	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	PON1	5444	HP:0003202	Skeletal muscle atrophy
OMIM:612577	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:612577	PON1	5444	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	PON2	5445	HP:0003202	Skeletal muscle atrophy
OMIM:612577	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:612577	PON2	5445	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	PON3	5446	HP:0003202	Skeletal muscle atrophy
OMIM:612577	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:612577	PON3	5446	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	NEFH	4744	HP:0003202	Skeletal muscle atrophy
OMIM:612577	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:612577	NEFH	4744	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	DAO	1610	HP:0003202	Skeletal muscle atrophy
OMIM:612577	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:612577	DAO	1610	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:612577	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:612577	TARDBP	23435	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	PPARGC1A	10891	HP:0003202	Skeletal muscle atrophy
OMIM:612577	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:612577	PPARGC1A	10891	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	ERBB4	2066	HP:0003202	Skeletal muscle atrophy
OMIM:612577	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:612577	ERBB4	2066	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
OMIM:612577	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:612577	CHCHD10	400916	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	OPTN	10133	HP:0003202	Skeletal muscle atrophy
OMIM:612577	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:612577	OPTN	10133	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	FUS	2521	HP:0003202	Skeletal muscle atrophy
OMIM:612577	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:612577	FUS	2521	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	UBQLN2	29978	HP:0003202	Skeletal muscle atrophy
OMIM:612577	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:612577	UBQLN2	29978	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	ANG	283	HP:0003202	Skeletal muscle atrophy
OMIM:612577	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:612577	ANG	283	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:612577	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:612577	C9ORF72	203228	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	PFN1	5216	HP:0003202	Skeletal muscle atrophy
OMIM:612577	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:612577	PFN1	5216	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	ATXN2	6311	HP:0003202	Skeletal muscle atrophy
OMIM:612577	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:612577	ATXN2	6311	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	DCTN1	1639	HP:0003202	Skeletal muscle atrophy
OMIM:612577	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:612577	DCTN1	1639	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	FIG4	9896	HP:0003202	Skeletal muscle atrophy
OMIM:612577	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:612577	FIG4	9896	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	HNRNPA1	3178	HP:0003202	Skeletal muscle atrophy
OMIM:612577	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:612577	HNRNPA1	3178	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:612577	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:612577	SQSTM1	8878	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	UNC13A	23025	HP:0003202	Skeletal muscle atrophy
OMIM:612577	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:612577	UNC13A	23025	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	MATR3	9782	HP:0003202	Skeletal muscle atrophy
OMIM:612577	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:612577	MATR3	9782	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:612577	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:612577	TBK1	29110	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	SOD1	6647	HP:0003202	Skeletal muscle atrophy
OMIM:612577	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:612577	SOD1	6647	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:612577	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:612577	VCP	7415	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	CHMP2B	25978	HP:0003202	Skeletal muscle atrophy
OMIM:612577	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:612577	CHMP2B	25978	HP:0002493	Upper motor neuron dysfunction
OMIM:612577	PRPH	5630	HP:0003202	Skeletal muscle atrophy
OMIM:612577	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:612577	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:612577	PRPH	5630	HP:0002493	Upper motor neuron dysfunction
OMIM:270100	NODAL	4838	HP:0000007	Autosomal recessive inheritance
OMIM:270100	NODAL	4838	HP:0001669	Transposition of the great arteries
OMIM:270100	NODAL	4838	HP:0001511	Intrauterine growth retardation
OMIM:270100	NODAL	4838	HP:0001629	Ventricular septal defect
OMIM:270100	NODAL	4838	HP:0002086	Abnormality of the respiratory system
OMIM:270100	NODAL	4838	HP:0000006	Autosomal dominant inheritance
OMIM:270100	NODAL	4838	HP:0001631	Atria septal defect
OMIM:270100	NODAL	4838	HP:0003363	Abdominal situs inversus
OMIM:615458	ADAMTS18	170692	HP:0000506	Telecanthus
OMIM:615458	ADAMTS18	170692	HP:0007787	Posterior subcapsular cataract
OMIM:615458	ADAMTS18	170692	HP:0000358	Posteriorly rotated ears
OMIM:615458	ADAMTS18	170692	HP:0000445	Wide nose
OMIM:615458	ADAMTS18	170692	HP:0000007	Autosomal recessive inheritance
OMIM:615458	ADAMTS18	170692	HP:0000455	Broad nasal tip
OMIM:615458	ADAMTS18	170692	HP:0000482	Microcornea
OMIM:611209	COG1	9382	HP:0008897	Postnatal growth retardation
OMIM:611209	COG1	9382	HP:0000319	Smooth philtrum
OMIM:611209	COG1	9382	HP:0000253	Progressive microcephaly
OMIM:611209	COG1	9382	HP:0001762	Talipes equinovarus
OMIM:611209	COG1	9382	HP:0000368	Low-set, posteriorly rotated ears
OMIM:611209	COG1	9382	HP:0000007	Autosomal recessive inheritance
OMIM:611209	COG1	9382	HP:0000938	Osteopenia
OMIM:611209	COG1	9382	HP:0001263	Global developmental delay
OMIM:611209	COG1	9382	HP:0003422	Vertebral segmentation defect
OMIM:611209	COG1	9382	HP:0001252	Muscular hypotonia
OMIM:611209	COG1	9382	HP:0001531	Failure to thrive in infancy
OMIM:611209	COG1	9382	HP:0008905	Rhizomelia
ORPHANET:1515	WDR19	57728	HP:0000944	Abnormality of the metaphyses
ORPHANET:1515	WDR19	57728	HP:0000679	Taurodontia
ORPHANET:1515	WDR19	57728	HP:0000463	Anteverted nares
ORPHANET:1515	WDR19	57728	HP:0006101	Finger syndactyly
ORPHANET:1515	WDR19	57728	HP:0000545	Myopia
ORPHANET:1515	WDR19	57728	HP:0002007	Frontal bossing
ORPHANET:1515	WDR19	57728	HP:0000767	Pectus excavatum
ORPHANET:1515	WDR19	57728	HP:0000268	Dolichocephaly
ORPHANET:1515	WDR19	57728	HP:0000232	Everted lower lip vermilion
ORPHANET:1515	WDR19	57728	HP:0000774	Narrow chest
ORPHANET:1515	WDR19	57728	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1515	WDR19	57728	HP:0001156	Brachydactyly syndrome
ORPHANET:1515	WDR19	57728	HP:0004349	Reduced bone mineral density
ORPHANET:1515	WDR19	57728	HP:0008388	Abnormality of the toenails
ORPHANET:1515	WDR19	57728	HP:0009826	Limb undergrowth
ORPHANET:1515	WDR19	57728	HP:0001382	Joint hypermobility
ORPHANET:1515	WDR19	57728	HP:0001231	Abnormality of the fingernails
ORPHANET:1515	WDR19	57728	HP:0010299	Abnormality of dentin
ORPHANET:1515	WDR19	57728	HP:0000269	Prominent occiput
ORPHANET:1515	WDR19	57728	HP:0011362	Abnormal hair quantity
ORPHANET:1515	WDR19	57728	HP:0000639	Nystagmus
ORPHANET:1515	WDR19	57728	HP:0000286	Epicanthus
ORPHANET:1515	WDR19	57728	HP:0000691	Microdontia
ORPHANET:1515	WDR19	57728	HP:0001363	Craniosynostosis
ORPHANET:1515	WDR19	57728	HP:0009804	Reduced number of teeth
ORPHANET:1515	WDR19	57728	HP:0000601	Hypotelorism
ORPHANET:1515	WDR19	57728	HP:0000940	Abnormal diaphysis morphology
ORPHANET:1515	WDR19	57728	HP:0009882	Short distal phalanx of finger
ORPHANET:1515	WDR19	57728	HP:0000540	Hypermetropia
ORPHANET:1515	IFT43	112752	HP:0000944	Abnormality of the metaphyses
ORPHANET:1515	IFT43	112752	HP:0000679	Taurodontia
ORPHANET:1515	IFT43	112752	HP:0000463	Anteverted nares
ORPHANET:1515	IFT43	112752	HP:0006101	Finger syndactyly
ORPHANET:1515	IFT43	112752	HP:0000545	Myopia
ORPHANET:1515	IFT43	112752	HP:0002007	Frontal bossing
ORPHANET:1515	IFT43	112752	HP:0000767	Pectus excavatum
ORPHANET:1515	IFT43	112752	HP:0000268	Dolichocephaly
ORPHANET:1515	IFT43	112752	HP:0000232	Everted lower lip vermilion
ORPHANET:1515	IFT43	112752	HP:0000774	Narrow chest
ORPHANET:1515	IFT43	112752	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1515	IFT43	112752	HP:0001156	Brachydactyly syndrome
ORPHANET:1515	IFT43	112752	HP:0004349	Reduced bone mineral density
ORPHANET:1515	IFT43	112752	HP:0008388	Abnormality of the toenails
ORPHANET:1515	IFT43	112752	HP:0009826	Limb undergrowth
ORPHANET:1515	IFT43	112752	HP:0001382	Joint hypermobility
ORPHANET:1515	IFT43	112752	HP:0001231	Abnormality of the fingernails
ORPHANET:1515	IFT43	112752	HP:0010299	Abnormality of dentin
ORPHANET:1515	IFT43	112752	HP:0000269	Prominent occiput
ORPHANET:1515	IFT43	112752	HP:0011362	Abnormal hair quantity
ORPHANET:1515	IFT43	112752	HP:0000639	Nystagmus
ORPHANET:1515	IFT43	112752	HP:0000286	Epicanthus
ORPHANET:1515	IFT43	112752	HP:0000691	Microdontia
ORPHANET:1515	IFT43	112752	HP:0001363	Craniosynostosis
ORPHANET:1515	IFT43	112752	HP:0009804	Reduced number of teeth
ORPHANET:1515	IFT43	112752	HP:0000601	Hypotelorism
ORPHANET:1515	IFT43	112752	HP:0000940	Abnormal diaphysis morphology
ORPHANET:1515	IFT43	112752	HP:0009882	Short distal phalanx of finger
ORPHANET:1515	IFT43	112752	HP:0000540	Hypermetropia
ORPHANET:1515	WDR35	57539	HP:0000944	Abnormality of the metaphyses
ORPHANET:1515	WDR35	57539	HP:0000679	Taurodontia
ORPHANET:1515	WDR35	57539	HP:0000463	Anteverted nares
ORPHANET:1515	WDR35	57539	HP:0006101	Finger syndactyly
ORPHANET:1515	WDR35	57539	HP:0000545	Myopia
ORPHANET:1515	WDR35	57539	HP:0002007	Frontal bossing
ORPHANET:1515	WDR35	57539	HP:0000767	Pectus excavatum
ORPHANET:1515	WDR35	57539	HP:0000268	Dolichocephaly
ORPHANET:1515	WDR35	57539	HP:0000232	Everted lower lip vermilion
ORPHANET:1515	WDR35	57539	HP:0000774	Narrow chest
ORPHANET:1515	WDR35	57539	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1515	WDR35	57539	HP:0001156	Brachydactyly syndrome
ORPHANET:1515	WDR35	57539	HP:0004349	Reduced bone mineral density
ORPHANET:1515	WDR35	57539	HP:0008388	Abnormality of the toenails
ORPHANET:1515	WDR35	57539	HP:0009826	Limb undergrowth
ORPHANET:1515	WDR35	57539	HP:0001382	Joint hypermobility
ORPHANET:1515	WDR35	57539	HP:0001231	Abnormality of the fingernails
ORPHANET:1515	WDR35	57539	HP:0010299	Abnormality of dentin
ORPHANET:1515	WDR35	57539	HP:0000269	Prominent occiput
ORPHANET:1515	WDR35	57539	HP:0011362	Abnormal hair quantity
ORPHANET:1515	WDR35	57539	HP:0000639	Nystagmus
ORPHANET:1515	WDR35	57539	HP:0000286	Epicanthus
ORPHANET:1515	WDR35	57539	HP:0000691	Microdontia
ORPHANET:1515	WDR35	57539	HP:0001363	Craniosynostosis
ORPHANET:1515	WDR35	57539	HP:0009804	Reduced number of teeth
ORPHANET:1515	WDR35	57539	HP:0000601	Hypotelorism
ORPHANET:1515	WDR35	57539	HP:0000940	Abnormal diaphysis morphology
ORPHANET:1515	WDR35	57539	HP:0009882	Short distal phalanx of finger
ORPHANET:1515	WDR35	57539	HP:0000540	Hypermetropia
ORPHANET:1515	IFT122	55764	HP:0000944	Abnormality of the metaphyses
ORPHANET:1515	IFT122	55764	HP:0000679	Taurodontia
ORPHANET:1515	IFT122	55764	HP:0000463	Anteverted nares
ORPHANET:1515	IFT122	55764	HP:0006101	Finger syndactyly
ORPHANET:1515	IFT122	55764	HP:0000545	Myopia
ORPHANET:1515	IFT122	55764	HP:0002007	Frontal bossing
ORPHANET:1515	IFT122	55764	HP:0000767	Pectus excavatum
ORPHANET:1515	IFT122	55764	HP:0000268	Dolichocephaly
ORPHANET:1515	IFT122	55764	HP:0000232	Everted lower lip vermilion
ORPHANET:1515	IFT122	55764	HP:0000774	Narrow chest
ORPHANET:1515	IFT122	55764	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1515	IFT122	55764	HP:0001156	Brachydactyly syndrome
ORPHANET:1515	IFT122	55764	HP:0004349	Reduced bone mineral density
ORPHANET:1515	IFT122	55764	HP:0008388	Abnormality of the toenails
ORPHANET:1515	IFT122	55764	HP:0009826	Limb undergrowth
ORPHANET:1515	IFT122	55764	HP:0001382	Joint hypermobility
ORPHANET:1515	IFT122	55764	HP:0001231	Abnormality of the fingernails
ORPHANET:1515	IFT122	55764	HP:0010299	Abnormality of dentin
ORPHANET:1515	IFT122	55764	HP:0000269	Prominent occiput
ORPHANET:1515	IFT122	55764	HP:0011362	Abnormal hair quantity
ORPHANET:1515	IFT122	55764	HP:0000639	Nystagmus
ORPHANET:1515	IFT122	55764	HP:0000286	Epicanthus
ORPHANET:1515	IFT122	55764	HP:0000691	Microdontia
ORPHANET:1515	IFT122	55764	HP:0001363	Craniosynostosis
ORPHANET:1515	IFT122	55764	HP:0009804	Reduced number of teeth
ORPHANET:1515	IFT122	55764	HP:0000601	Hypotelorism
ORPHANET:1515	IFT122	55764	HP:0000940	Abnormal diaphysis morphology
ORPHANET:1515	IFT122	55764	HP:0009882	Short distal phalanx of finger
ORPHANET:1515	IFT122	55764	HP:0000540	Hypermetropia
OMIM:610706	FGF3	2248	HP:0000007	Autosomal recessive inheritance
OMIM:610706	FGF3	2248	HP:0000307	Pointed chin
OMIM:610706	FGF3	2248	HP:0011476	Profound sensorineural hearing impairment
OMIM:610706	FGF3	2248	HP:0000384	Preauricular skin tag
OMIM:610706	FGF3	2248	HP:0001291	Abnormality of the cranial nerves
OMIM:610706	FGF3	2248	HP:0009908	Anterior creases of earlobe
OMIM:610706	FGF3	2248	HP:0000494	Downslanted palpebral fissures
OMIM:610706	FGF3	2248	HP:0000276	Long face
OMIM:610706	FGF3	2248	HP:0005105	Abnormal nasal morphology
OMIM:610706	FGF3	2248	HP:0002194	Delayed gross motor development
OMIM:610706	FGF3	2248	HP:0010609	Skin tags
OMIM:610706	FGF3	2248	HP:0000687	Widely spaced teeth
OMIM:610706	FGF3	2248	HP:0009804	Reduced number of teeth
OMIM:610706	FGF3	2248	HP:0000431	Wide nasal bridge
OMIM:610706	FGF3	2248	HP:0000316	Hypertelorism
OMIM:610706	FGF3	2248	HP:0000347	Micrognathia
OMIM:610706	FGF3	2248	HP:0000540	Hypermetropia
OMIM:610706	FGF3	2248	HP:0005288	Abnormality of the nares
OMIM:610706	FGF3	2248	HP:0000691	Microdontia
OMIM:610706	FGF3	2248	HP:0000486	Strabismus
OMIM:610706	FGF3	2248	HP:0000098	Tall stature
OMIM:610706	FGF3	2248	HP:0000664	Synophrys
OMIM:615107	PTEN	5728	HP:0010566	Hamartoma
OMIM:615107	PTEN	5728	HP:0000168	Abnormality of the gingiva
OMIM:615107	PTEN	5728	HP:0009726	Renal neoplasm
OMIM:615107	KLLN	100144748	HP:0010566	Hamartoma
OMIM:615107	KLLN	100144748	HP:0000168	Abnormality of the gingiva
OMIM:615107	KLLN	100144748	HP:0009726	Renal neoplasm
OMIM:615107	SDHB	6390	HP:0010566	Hamartoma
OMIM:615107	SDHB	6390	HP:0000168	Abnormality of the gingiva
OMIM:615107	SDHB	6390	HP:0009726	Renal neoplasm
OMIM:615107	SDHC	6391	HP:0010566	Hamartoma
OMIM:615107	SDHC	6391	HP:0000168	Abnormality of the gingiva
OMIM:615107	SDHC	6391	HP:0009726	Renal neoplasm
OMIM:615107	SDHD	6392	HP:0010566	Hamartoma
OMIM:615107	SDHD	6392	HP:0000168	Abnormality of the gingiva
OMIM:615107	SDHD	6392	HP:0009726	Renal neoplasm
OMIM:615107	PIK3CA	5290	HP:0010566	Hamartoma
OMIM:615107	PIK3CA	5290	HP:0000168	Abnormality of the gingiva
OMIM:615107	PIK3CA	5290	HP:0009726	Renal neoplasm
OMIM:615107	AKT1	207	HP:0010566	Hamartoma
OMIM:615107	AKT1	207	HP:0000168	Abnormality of the gingiva
OMIM:615107	AKT1	207	HP:0009726	Renal neoplasm
OMIM:155700	CDKN2A	1029	HP:0007716	Intraocular melanoma
OMIM:155700	CDKN2A	1029	HP:0000006	Autosomal dominant inheritance
OMIM:155700	CDKN2B	1030	HP:0007716	Intraocular melanoma
OMIM:155700	CDKN2B	1030	HP:0000006	Autosomal dominant inheritance
OMIM:155700	TERT	7015	HP:0007716	Intraocular melanoma
OMIM:155700	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:155700	CDKN2D	1032	HP:0007716	Intraocular melanoma
OMIM:155700	CDKN2D	1032	HP:0000006	Autosomal dominant inheritance
OMIM:155700	POT1	25913	HP:0007716	Intraocular melanoma
OMIM:155700	POT1	25913	HP:0000006	Autosomal dominant inheritance
OMIM:155700	CDK4	1019	HP:0007716	Intraocular melanoma
OMIM:155700	CDK4	1019	HP:0000006	Autosomal dominant inheritance
OMIM:155700	MC1R	4157	HP:0007716	Intraocular melanoma
OMIM:155700	MC1R	4157	HP:0000006	Autosomal dominant inheritance
OMIM:142680	TNFRSF1A	7132	HP:0003326	Myalgia
OMIM:142680	TNFRSF1A	7132	HP:0005214	Intestinal obstruction
OMIM:142680	TNFRSF1A	7132	HP:0000969	Edema
OMIM:142680	TNFRSF1A	7132	HP:0001744	Splenomegaly
OMIM:142680	TNFRSF1A	7132	HP:0000006	Autosomal dominant inheritance
OMIM:142680	TNFRSF1A	7132	HP:0000163	Abnormality of the oral cavity
OMIM:142680	TNFRSF1A	7132	HP:0002019	Constipation
OMIM:142680	TNFRSF1A	7132	HP:0100749	Chest pain
OMIM:142680	TNFRSF1A	7132	HP:0001034	Hypermelanotic macule
OMIM:142680	TNFRSF1A	7132	HP:0000988	Skin rash
OMIM:142680	TNFRSF1A	7132	HP:0000505	Visual impairment
OMIM:142680	TNFRSF1A	7132	HP:0001369	Arthritis
OMIM:142680	TNFRSF1A	7132	HP:0003401	Paresthesia
OMIM:142680	TNFRSF1A	7132	HP:0002633	Vasculitis
OMIM:142680	TNFRSF1A	7132	HP:0002829	Arthralgia
OMIM:142680	TNFRSF1A	7132	HP:0001974	Leukocytosis
OMIM:142680	TNFRSF1A	7132	HP:0002017	Nausea and vomiting
OMIM:142680	TNFRSF1A	7132	HP:0100658	Cellulitis
OMIM:142680	TNFRSF1A	7132	HP:0000112	Nephropathy
OMIM:142680	TNFRSF1A	7132	HP:0100539	Periorbital edema
OMIM:142680	TNFRSF1A	7132	HP:0002240	Hepatomegaly
OMIM:142680	TNFRSF1A	7132	HP:0002910	Elevated hepatic transaminases
OMIM:142680	TNFRSF1A	7132	HP:0001677	Coronary artery disease
OMIM:142680	TNFRSF1A	7132	HP:0100533	Inflammatory abnormality of the eye
OMIM:142680	TNFRSF1A	7132	HP:0001637	Abnormality of the myocardium
OMIM:142680	TNFRSF1A	7132	HP:0011034	Amyloidosis
OMIM:142680	TNFRSF1A	7132	HP:0002321	Vertigo
OMIM:142680	TNFRSF1A	7132	HP:0002027	Abdominal pain
OMIM:142680	TNFRSF1A	7132	HP:0000978	Bruising susceptibility
OMIM:142680	TNFRSF1A	7132	HP:0000708	Behavioral abnormality
OMIM:142680	TNFRSF1A	7132	HP:0006824	Cranial nerve paralysis
OMIM:142680	TNFRSF1A	7132	HP:0002076	Migraine
OMIM:142680	TNFRSF1A	7132	HP:0001596	Alopecia
OMIM:142680	TNFRSF1A	7132	HP:0002014	Diarrhea
OMIM:615328	COG6	57511	HP:0000966	Hypohidrosis
OMIM:615328	COG6	57511	HP:0000750	Delayed speech and language development
OMIM:615328	COG6	57511	HP:0006297	Hypoplasia of dental enamel
OMIM:615328	COG6	57511	HP:0003577	Congenital onset
OMIM:615328	COG6	57511	HP:0000670	Carious teeth
OMIM:615328	COG6	57511	HP:0000252	Microcephaly
OMIM:615328	COG6	57511	HP:0000007	Autosomal recessive inheritance
OMIM:615328	COG6	57511	HP:0001249	Intellectual disability
OMIM:188470	FOXE1	2304	HP:0000006	Autosomal dominant inheritance
OMIM:188470	FOXE1	2304	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:188470	HABP2	3026	HP:0000006	Autosomal dominant inheritance
OMIM:188470	HABP2	3026	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:188470	MINPP1	9562	HP:0000006	Autosomal dominant inheritance
OMIM:188470	MINPP1	9562	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:188470	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:188470	NRAS	4893	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:613679	F2	2147	HP:0002239	Gastrointestinal hemorrhage
OMIM:613679	F2	2147	HP:0003577	Congenital onset
OMIM:613679	F2	2147	HP:0003010	Prolonged bleeding time
OMIM:613679	F2	2147	HP:0000225	Gingival bleeding
OMIM:613679	F2	2147	HP:0000421	Epistaxis
OMIM:613679	F2	2147	HP:0003828	Variable expressivity
OMIM:613679	F2	2147	HP:0000007	Autosomal recessive inheritance
OMIM:613679	F2	2147	HP:0000978	Bruising susceptibility
OMIM:300068	AR	367	HP:0000786	Primary amenorrhea
OMIM:300068	AR	367	HP:0001507	Growth abnormality
OMIM:300068	AR	367	HP:0002215	Sparse axillary hair
OMIM:300068	AR	367	HP:0000023	Inguinal hernia
OMIM:300068	AR	367	HP:0002664	Neoplasm
OMIM:300068	AR	367	HP:0001419	X-linked recessive inheritance
OMIM:611451	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:611451	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:611451	BSND	7809	HP:0000365	Hearing impairment
OMIM:611451	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:611451	ESPN	83715	HP:0000365	Hearing impairment
OMIM:611451	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:611451	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:611451	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:611451	OTOA	146183	HP:0000365	Hearing impairment
OMIM:611451	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:611451	GJA1	2697	HP:0000365	Hearing impairment
OMIM:611451	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:611451	MET	4233	HP:0000365	Hearing impairment
OMIM:611451	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:611451	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:611451	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:611451	HGF	3082	HP:0000365	Hearing impairment
OMIM:611451	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:611451	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:611451	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:611451	EPS8	2059	HP:0000365	Hearing impairment
OMIM:611451	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:611451	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:611451	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:611451	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:611451	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:611451	GJB2	2706	HP:0000365	Hearing impairment
OMIM:611451	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:611451	GJB3	2707	HP:0000365	Hearing impairment
OMIM:611451	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:611451	CABP2	51475	HP:0000365	Hearing impairment
OMIM:611451	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:611451	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:611451	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:611451	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:611451	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:611451	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:611451	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:611451	CIB2	10518	HP:0000365	Hearing impairment
OMIM:611451	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:611451	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:611451	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:611451	KARS	3735	HP:0000365	Hearing impairment
OMIM:611451	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:611451	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:611451	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:611451	TMC1	117531	HP:0000365	Hearing impairment
OMIM:611451	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:611451	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:611451	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:611451	OTOF	9381	HP:0000365	Hearing impairment
OMIM:611451	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:611451	MYO6	4646	HP:0000365	Hearing impairment
OMIM:611451	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:611451	TMIE	259236	HP:0000365	Hearing impairment
OMIM:611451	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:611451	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:611451	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:611451	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:611451	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:611451	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:611451	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:611451	TPRN	286262	HP:0000365	Hearing impairment
OMIM:611451	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:611451	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:611451	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:611451	GJB6	10804	HP:0000365	Hearing impairment
OMIM:611451	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:611451	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:611451	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:611451	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:611451	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:611451	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:611451	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:611451	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:611451	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:611451	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:611451	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:611451	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:611451	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:611451	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:611451	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:611451	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:611451	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:611451	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:611451	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:611451	CDH23	64072	HP:0000365	Hearing impairment
OMIM:611451	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:611451	RDX	5962	HP:0000365	Hearing impairment
OMIM:611451	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:611451	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:611451	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:611451	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:611451	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:611451	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:611451	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:611451	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:611451	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:611451	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:611451	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:611451	STRC	161497	HP:0000365	Hearing impairment
OMIM:611451	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:611451	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:611451	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:611451	TECTA	7007	HP:0000365	Hearing impairment
OMIM:611451	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:611451	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:611451	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:611451	USH1C	10083	HP:0000365	Hearing impairment
OMIM:611451	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:611451	ADCY1	107	HP:0000365	Hearing impairment
OMIM:611451	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:611451	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:611451	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:611451	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:611451	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:611451	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:611451	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:611451	OTOG	340990	HP:0000365	Hearing impairment
OMIM:611451	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:606867	GORASP1	64689	HP:0001433	Hepatosplenomegaly
OMIM:606867	GORASP1	64689	HP:0002716	Lymphadenopathy
OMIM:606867	GORASP1	64689	HP:0002028	Chronic diarrhea
OMIM:606867	GORASP1	64689	HP:0001508	Failure to thrive
OMIM:606867	GORASP1	64689	HP:0000230	Gingivitis
OMIM:233700	CYBB	1536	HP:0002955	Granulomatosis
OMIM:233700	CYBB	1536	HP:0007417	Discoid lupus erythematosus
OMIM:233700	CYBB	1536	HP:0000007	Autosomal recessive inheritance
OMIM:233700	CYBB	1536	HP:0003621	Juvenile onset
OMIM:233700	CYBB	1536	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233700	CYBB	1536	HP:0000976	Eczematoid dermatitis
OMIM:233700	CYBB	1536	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233700	CYBB	1536	HP:0002840	Lymphadenitis
OMIM:233700	CYBB	1536	HP:0005406	Recurrent bacterial skin infections
OMIM:233700	CYBB	1536	HP:0001744	Splenomegaly
OMIM:233700	CYBB	1536	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233700	CYBB	1536	HP:0006532	Recurrent pneumonia
OMIM:233700	CYBB	1536	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233700	CYBB	1536	HP:0002240	Hepatomegaly
OMIM:233700	CYBB	1536	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233700	CYBB	1536	HP:0005224	Rectal abscess
OMIM:233700	CYBB	1536	HP:0002716	Lymphadenopathy
OMIM:233700	CYBB	1536	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233700	CYBB	1536	HP:0002724	Recurrent Aspergillus infections
OMIM:233700	CYBB	1536	HP:0002742	Recurrent Klebsiella infections
OMIM:233700	CYBB	1536	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233700	CYBB	1536	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233700	CYBB	1536	HP:0002740	Recurrent E. coli infections
OMIM:233700	CYBB	1536	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233700	NCF2	4688	HP:0002955	Granulomatosis
OMIM:233700	NCF2	4688	HP:0007417	Discoid lupus erythematosus
OMIM:233700	NCF2	4688	HP:0000007	Autosomal recessive inheritance
OMIM:233700	NCF2	4688	HP:0003621	Juvenile onset
OMIM:233700	NCF2	4688	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233700	NCF2	4688	HP:0000976	Eczematoid dermatitis
OMIM:233700	NCF2	4688	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233700	NCF2	4688	HP:0002840	Lymphadenitis
OMIM:233700	NCF2	4688	HP:0005406	Recurrent bacterial skin infections
OMIM:233700	NCF2	4688	HP:0001744	Splenomegaly
OMIM:233700	NCF2	4688	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233700	NCF2	4688	HP:0006532	Recurrent pneumonia
OMIM:233700	NCF2	4688	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233700	NCF2	4688	HP:0002240	Hepatomegaly
OMIM:233700	NCF2	4688	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233700	NCF2	4688	HP:0005224	Rectal abscess
OMIM:233700	NCF2	4688	HP:0002716	Lymphadenopathy
OMIM:233700	NCF2	4688	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233700	NCF2	4688	HP:0002724	Recurrent Aspergillus infections
OMIM:233700	NCF2	4688	HP:0002742	Recurrent Klebsiella infections
OMIM:233700	NCF2	4688	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233700	NCF2	4688	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233700	NCF2	4688	HP:0002740	Recurrent E. coli infections
OMIM:233700	NCF2	4688	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233700	NCF4	4689	HP:0002955	Granulomatosis
OMIM:233700	NCF4	4689	HP:0007417	Discoid lupus erythematosus
OMIM:233700	NCF4	4689	HP:0000007	Autosomal recessive inheritance
OMIM:233700	NCF4	4689	HP:0003621	Juvenile onset
OMIM:233700	NCF4	4689	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233700	NCF4	4689	HP:0000976	Eczematoid dermatitis
OMIM:233700	NCF4	4689	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233700	NCF4	4689	HP:0002840	Lymphadenitis
OMIM:233700	NCF4	4689	HP:0005406	Recurrent bacterial skin infections
OMIM:233700	NCF4	4689	HP:0001744	Splenomegaly
OMIM:233700	NCF4	4689	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233700	NCF4	4689	HP:0006532	Recurrent pneumonia
OMIM:233700	NCF4	4689	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233700	NCF4	4689	HP:0002240	Hepatomegaly
OMIM:233700	NCF4	4689	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233700	NCF4	4689	HP:0005224	Rectal abscess
OMIM:233700	NCF4	4689	HP:0002716	Lymphadenopathy
OMIM:233700	NCF4	4689	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233700	NCF4	4689	HP:0002724	Recurrent Aspergillus infections
OMIM:233700	NCF4	4689	HP:0002742	Recurrent Klebsiella infections
OMIM:233700	NCF4	4689	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233700	NCF4	4689	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233700	NCF4	4689	HP:0002740	Recurrent E. coli infections
OMIM:233700	NCF4	4689	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233700	NCF1	653361	HP:0002955	Granulomatosis
OMIM:233700	NCF1	653361	HP:0007417	Discoid lupus erythematosus
OMIM:233700	NCF1	653361	HP:0000007	Autosomal recessive inheritance
OMIM:233700	NCF1	653361	HP:0003621	Juvenile onset
OMIM:233700	NCF1	653361	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233700	NCF1	653361	HP:0000976	Eczematoid dermatitis
OMIM:233700	NCF1	653361	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233700	NCF1	653361	HP:0002840	Lymphadenitis
OMIM:233700	NCF1	653361	HP:0005406	Recurrent bacterial skin infections
OMIM:233700	NCF1	653361	HP:0001744	Splenomegaly
OMIM:233700	NCF1	653361	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233700	NCF1	653361	HP:0006532	Recurrent pneumonia
OMIM:233700	NCF1	653361	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233700	NCF1	653361	HP:0002240	Hepatomegaly
OMIM:233700	NCF1	653361	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233700	NCF1	653361	HP:0005224	Rectal abscess
OMIM:233700	NCF1	653361	HP:0002716	Lymphadenopathy
OMIM:233700	NCF1	653361	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233700	NCF1	653361	HP:0002724	Recurrent Aspergillus infections
OMIM:233700	NCF1	653361	HP:0002742	Recurrent Klebsiella infections
OMIM:233700	NCF1	653361	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233700	NCF1	653361	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233700	NCF1	653361	HP:0002740	Recurrent E. coli infections
OMIM:233700	NCF1	653361	HP:0003206	Decreased activity of NADPH oxidase
OMIM:233700	CYBA	1535	HP:0002955	Granulomatosis
OMIM:233700	CYBA	1535	HP:0007417	Discoid lupus erythematosus
OMIM:233700	CYBA	1535	HP:0000007	Autosomal recessive inheritance
OMIM:233700	CYBA	1535	HP:0003621	Juvenile onset
OMIM:233700	CYBA	1535	HP:0002741	Recurrent Serratia marcescens infections
OMIM:233700	CYBA	1535	HP:0000976	Eczematoid dermatitis
OMIM:233700	CYBA	1535	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:233700	CYBA	1535	HP:0002840	Lymphadenitis
OMIM:233700	CYBA	1535	HP:0005406	Recurrent bacterial skin infections
OMIM:233700	CYBA	1535	HP:0001744	Splenomegaly
OMIM:233700	CYBA	1535	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:233700	CYBA	1535	HP:0006532	Recurrent pneumonia
OMIM:233700	CYBA	1535	HP:0003553	Cellulitis due to immunodeficiency
OMIM:233700	CYBA	1535	HP:0002240	Hepatomegaly
OMIM:233700	CYBA	1535	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:233700	CYBA	1535	HP:0005224	Rectal abscess
OMIM:233700	CYBA	1535	HP:0002716	Lymphadenopathy
OMIM:233700	CYBA	1535	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:233700	CYBA	1535	HP:0002724	Recurrent Aspergillus infections
OMIM:233700	CYBA	1535	HP:0002742	Recurrent Klebsiella infections
OMIM:233700	CYBA	1535	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:233700	CYBA	1535	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:233700	CYBA	1535	HP:0002740	Recurrent E. coli infections
OMIM:233700	CYBA	1535	HP:0003206	Decreased activity of NADPH oxidase
OMIM:607261	EVC2	132884	HP:0001395	Hepatic fibrosis
OMIM:607261	EVC2	132884	HP:0000238	Hydrocephalus
OMIM:607261	EVC2	132884	HP:0001408	Bile duct proliferation
OMIM:607261	EVC2	132884	HP:0000175	Cleft palate
OMIM:607261	EVC2	132884	HP:0001162	Postaxial hand polydactyly
OMIM:607261	EVC2	132884	HP:0001305	Dandy-Walker malformation
OMIM:613762	DMRT1	1761	HP:0000150	Gonadoblastoma
OMIM:613762	DMRT1	1761	HP:0000041	Chordee
OMIM:613762	DMRT1	1761	HP:0002215	Sparse axillary hair
OMIM:613762	DMRT1	1761	HP:0000006	Autosomal dominant inheritance
OMIM:613762	DMRT1	1761	HP:0012245	Sex reversal
OMIM:613762	DMRT1	1761	HP:0000057	Clitoromegaly
OMIM:613762	DMRT1	1761	HP:0100621	Dysgerminoma
OMIM:613762	DMRT1	1761	HP:0001007	Hirsutism
OMIM:613762	WT1	7490	HP:0000150	Gonadoblastoma
OMIM:613762	WT1	7490	HP:0000041	Chordee
OMIM:613762	WT1	7490	HP:0002215	Sparse axillary hair
OMIM:613762	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:613762	WT1	7490	HP:0012245	Sex reversal
OMIM:613762	WT1	7490	HP:0000057	Clitoromegaly
OMIM:613762	WT1	7490	HP:0100621	Dysgerminoma
OMIM:613762	WT1	7490	HP:0001007	Hirsutism
OMIM:613762	GATA4	2626	HP:0000150	Gonadoblastoma
OMIM:613762	GATA4	2626	HP:0000041	Chordee
OMIM:613762	GATA4	2626	HP:0002215	Sparse axillary hair
OMIM:613762	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:613762	GATA4	2626	HP:0012245	Sex reversal
OMIM:613762	GATA4	2626	HP:0000057	Clitoromegaly
OMIM:613762	GATA4	2626	HP:0100621	Dysgerminoma
OMIM:613762	GATA4	2626	HP:0001007	Hirsutism
OMIM:613762	SOX9	6662	HP:0000150	Gonadoblastoma
OMIM:613762	SOX9	6662	HP:0000041	Chordee
OMIM:613762	SOX9	6662	HP:0002215	Sparse axillary hair
OMIM:613762	SOX9	6662	HP:0000006	Autosomal dominant inheritance
OMIM:613762	SOX9	6662	HP:0012245	Sex reversal
OMIM:613762	SOX9	6662	HP:0000057	Clitoromegaly
OMIM:613762	SOX9	6662	HP:0100621	Dysgerminoma
OMIM:613762	SOX9	6662	HP:0001007	Hirsutism
OMIM:613762	SRY	6736	HP:0000150	Gonadoblastoma
OMIM:613762	SRY	6736	HP:0000041	Chordee
OMIM:613762	SRY	6736	HP:0002215	Sparse axillary hair
OMIM:613762	SRY	6736	HP:0000006	Autosomal dominant inheritance
OMIM:613762	SRY	6736	HP:0012245	Sex reversal
OMIM:613762	SRY	6736	HP:0000057	Clitoromegaly
OMIM:613762	SRY	6736	HP:0100621	Dysgerminoma
OMIM:613762	SRY	6736	HP:0001007	Hirsutism
OMIM:613762	NR5A1	2516	HP:0000150	Gonadoblastoma
OMIM:613762	NR5A1	2516	HP:0000041	Chordee
OMIM:613762	NR5A1	2516	HP:0002215	Sparse axillary hair
OMIM:613762	NR5A1	2516	HP:0000006	Autosomal dominant inheritance
OMIM:613762	NR5A1	2516	HP:0012245	Sex reversal
OMIM:613762	NR5A1	2516	HP:0000057	Clitoromegaly
OMIM:613762	NR5A1	2516	HP:0100621	Dysgerminoma
OMIM:613762	NR5A1	2516	HP:0001007	Hirsutism
OMIM:613762	MAP3K1	4214	HP:0000150	Gonadoblastoma
OMIM:613762	MAP3K1	4214	HP:0000041	Chordee
OMIM:613762	MAP3K1	4214	HP:0002215	Sparse axillary hair
OMIM:613762	MAP3K1	4214	HP:0000006	Autosomal dominant inheritance
OMIM:613762	MAP3K1	4214	HP:0012245	Sex reversal
OMIM:613762	MAP3K1	4214	HP:0000057	Clitoromegaly
OMIM:613762	MAP3K1	4214	HP:0100621	Dysgerminoma
OMIM:613762	MAP3K1	4214	HP:0001007	Hirsutism
OMIM:613762	ZFPM2	23414	HP:0000150	Gonadoblastoma
OMIM:613762	ZFPM2	23414	HP:0000041	Chordee
OMIM:613762	ZFPM2	23414	HP:0002215	Sparse axillary hair
OMIM:613762	ZFPM2	23414	HP:0000006	Autosomal dominant inheritance
OMIM:613762	ZFPM2	23414	HP:0012245	Sex reversal
OMIM:613762	ZFPM2	23414	HP:0000057	Clitoromegaly
OMIM:613762	ZFPM2	23414	HP:0100621	Dysgerminoma
OMIM:613762	ZFPM2	23414	HP:0001007	Hirsutism
OMIM:613762	CBX2	84733	HP:0000150	Gonadoblastoma
OMIM:613762	CBX2	84733	HP:0000041	Chordee
OMIM:613762	CBX2	84733	HP:0002215	Sparse axillary hair
OMIM:613762	CBX2	84733	HP:0000006	Autosomal dominant inheritance
OMIM:613762	CBX2	84733	HP:0012245	Sex reversal
OMIM:613762	CBX2	84733	HP:0000057	Clitoromegaly
OMIM:613762	CBX2	84733	HP:0100621	Dysgerminoma
OMIM:613762	CBX2	84733	HP:0001007	Hirsutism
OMIM:613762	WWOX	51741	HP:0000150	Gonadoblastoma
OMIM:613762	WWOX	51741	HP:0000041	Chordee
OMIM:613762	WWOX	51741	HP:0002215	Sparse axillary hair
OMIM:613762	WWOX	51741	HP:0000006	Autosomal dominant inheritance
OMIM:613762	WWOX	51741	HP:0012245	Sex reversal
OMIM:613762	WWOX	51741	HP:0000057	Clitoromegaly
OMIM:613762	WWOX	51741	HP:0100621	Dysgerminoma
OMIM:613762	WWOX	51741	HP:0001007	Hirsutism
OMIM:613762	VAMP7	6845	HP:0000150	Gonadoblastoma
OMIM:613762	VAMP7	6845	HP:0000041	Chordee
OMIM:613762	VAMP7	6845	HP:0002215	Sparse axillary hair
OMIM:613762	VAMP7	6845	HP:0000006	Autosomal dominant inheritance
OMIM:613762	VAMP7	6845	HP:0012245	Sex reversal
OMIM:613762	VAMP7	6845	HP:0000057	Clitoromegaly
OMIM:613762	VAMP7	6845	HP:0100621	Dysgerminoma
OMIM:613762	VAMP7	6845	HP:0001007	Hirsutism
OMIM:613762	DHH	50846	HP:0000150	Gonadoblastoma
OMIM:613762	DHH	50846	HP:0000041	Chordee
OMIM:613762	DHH	50846	HP:0002215	Sparse axillary hair
OMIM:613762	DHH	50846	HP:0000006	Autosomal dominant inheritance
OMIM:613762	DHH	50846	HP:0012245	Sex reversal
OMIM:613762	DHH	50846	HP:0000057	Clitoromegaly
OMIM:613762	DHH	50846	HP:0100621	Dysgerminoma
OMIM:613762	DHH	50846	HP:0001007	Hirsutism
OMIM:613762	NR0B1	190	HP:0000150	Gonadoblastoma
OMIM:613762	NR0B1	190	HP:0000041	Chordee
OMIM:613762	NR0B1	190	HP:0002215	Sparse axillary hair
OMIM:613762	NR0B1	190	HP:0000006	Autosomal dominant inheritance
OMIM:613762	NR0B1	190	HP:0012245	Sex reversal
OMIM:613762	NR0B1	190	HP:0000057	Clitoromegaly
OMIM:613762	NR0B1	190	HP:0100621	Dysgerminoma
OMIM:613762	NR0B1	190	HP:0001007	Hirsutism
OMIM:613731	RLBP1	6017	HP:0001123	Visual field defect
OMIM:613731	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613731	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613731	RLBP1	6017	HP:0000518	Cataract
OMIM:613731	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613731	RLBP1	6017	HP:0000512	Abnormal electroretinogram
OMIM:613731	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:613731	SPATA7	55812	HP:0001123	Visual field defect
OMIM:613731	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613731	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613731	SPATA7	55812	HP:0000518	Cataract
OMIM:613731	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613731	SPATA7	55812	HP:0000512	Abnormal electroretinogram
OMIM:613731	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:613731	ARL6	84100	HP:0001123	Visual field defect
OMIM:613731	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613731	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613731	ARL6	84100	HP:0000518	Cataract
OMIM:613731	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613731	ARL6	84100	HP:0000512	Abnormal electroretinogram
OMIM:613731	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:613731	CERKL	375298	HP:0001123	Visual field defect
OMIM:613731	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613731	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613731	CERKL	375298	HP:0000518	Cataract
OMIM:613731	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613731	CERKL	375298	HP:0000512	Abnormal electroretinogram
OMIM:613731	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:613731	PRPF31	26121	HP:0001123	Visual field defect
OMIM:613731	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613731	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613731	PRPF31	26121	HP:0000518	Cataract
OMIM:613731	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613731	PRPF31	26121	HP:0000512	Abnormal electroretinogram
OMIM:613731	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:613731	TTC8	123016	HP:0001123	Visual field defect
OMIM:613731	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613731	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613731	TTC8	123016	HP:0000518	Cataract
OMIM:613731	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613731	TTC8	123016	HP:0000512	Abnormal electroretinogram
OMIM:613731	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:613731	PROM1	8842	HP:0001123	Visual field defect
OMIM:613731	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613731	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613731	PROM1	8842	HP:0000518	Cataract
OMIM:613731	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613731	PROM1	8842	HP:0000512	Abnormal electroretinogram
OMIM:613731	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:613731	LRAT	9227	HP:0001123	Visual field defect
OMIM:613731	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613731	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613731	LRAT	9227	HP:0000518	Cataract
OMIM:613731	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613731	LRAT	9227	HP:0000512	Abnormal electroretinogram
OMIM:613731	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:613731	IFT140	9742	HP:0001123	Visual field defect
OMIM:613731	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613731	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613731	IFT140	9742	HP:0000518	Cataract
OMIM:613731	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613731	IFT140	9742	HP:0000512	Abnormal electroretinogram
OMIM:613731	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:613731	BEST1	7439	HP:0001123	Visual field defect
OMIM:613731	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613731	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613731	BEST1	7439	HP:0000518	Cataract
OMIM:613731	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613731	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:613731	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:613731	NEK2	4751	HP:0001123	Visual field defect
OMIM:613731	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613731	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613731	NEK2	4751	HP:0000518	Cataract
OMIM:613731	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613731	NEK2	4751	HP:0000512	Abnormal electroretinogram
OMIM:613731	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:613731	ARL2BP	23568	HP:0001123	Visual field defect
OMIM:613731	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613731	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613731	ARL2BP	23568	HP:0000518	Cataract
OMIM:613731	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613731	ARL2BP	23568	HP:0000512	Abnormal electroretinogram
OMIM:613731	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:613731	NR2E3	10002	HP:0001123	Visual field defect
OMIM:613731	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613731	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613731	NR2E3	10002	HP:0000518	Cataract
OMIM:613731	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613731	NR2E3	10002	HP:0000512	Abnormal electroretinogram
OMIM:613731	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:613731	EYS	346007	HP:0001123	Visual field defect
OMIM:613731	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613731	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613731	EYS	346007	HP:0000518	Cataract
OMIM:613731	EYS	346007	HP:0000662	Nyctalopia
OMIM:613731	EYS	346007	HP:0000512	Abnormal electroretinogram
OMIM:613731	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:613731	MAK	4117	HP:0001123	Visual field defect
OMIM:613731	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613731	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613731	MAK	4117	HP:0000518	Cataract
OMIM:613731	MAK	4117	HP:0000662	Nyctalopia
OMIM:613731	MAK	4117	HP:0000512	Abnormal electroretinogram
OMIM:613731	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:613731	SAG	6295	HP:0001123	Visual field defect
OMIM:613731	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613731	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613731	SAG	6295	HP:0000518	Cataract
OMIM:613731	SAG	6295	HP:0000662	Nyctalopia
OMIM:613731	SAG	6295	HP:0000512	Abnormal electroretinogram
OMIM:613731	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:613731	ABCA4	24	HP:0001123	Visual field defect
OMIM:613731	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613731	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613731	ABCA4	24	HP:0000518	Cataract
OMIM:613731	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613731	ABCA4	24	HP:0000512	Abnormal electroretinogram
OMIM:613731	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:613731	PDE6A	5145	HP:0001123	Visual field defect
OMIM:613731	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613731	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613731	PDE6A	5145	HP:0000518	Cataract
OMIM:613731	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613731	PDE6A	5145	HP:0000512	Abnormal electroretinogram
OMIM:613731	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:613731	PDE6G	5148	HP:0001123	Visual field defect
OMIM:613731	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613731	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613731	PDE6G	5148	HP:0000518	Cataract
OMIM:613731	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613731	PDE6G	5148	HP:0000512	Abnormal electroretinogram
OMIM:613731	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:613731	IMPDH1	3614	HP:0001123	Visual field defect
OMIM:613731	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613731	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613731	IMPDH1	3614	HP:0000518	Cataract
OMIM:613731	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613731	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
OMIM:613731	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:613731	OFD1	8481	HP:0001123	Visual field defect
OMIM:613731	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613731	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613731	OFD1	8481	HP:0000518	Cataract
OMIM:613731	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613731	OFD1	8481	HP:0000512	Abnormal electroretinogram
OMIM:613731	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:613731	GUCA1B	2979	HP:0001123	Visual field defect
OMIM:613731	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613731	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613731	GUCA1B	2979	HP:0000518	Cataract
OMIM:613731	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613731	GUCA1B	2979	HP:0000512	Abnormal electroretinogram
OMIM:613731	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:613731	NRL	4901	HP:0001123	Visual field defect
OMIM:613731	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613731	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613731	NRL	4901	HP:0000518	Cataract
OMIM:613731	NRL	4901	HP:0000662	Nyctalopia
OMIM:613731	NRL	4901	HP:0000512	Abnormal electroretinogram
OMIM:613731	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:613731	PDE6B	5158	HP:0001123	Visual field defect
OMIM:613731	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613731	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613731	PDE6B	5158	HP:0000518	Cataract
OMIM:613731	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613731	PDE6B	5158	HP:0000512	Abnormal electroretinogram
OMIM:613731	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:613731	KLHL7	55975	HP:0001123	Visual field defect
OMIM:613731	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613731	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613731	KLHL7	55975	HP:0000518	Cataract
OMIM:613731	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613731	KLHL7	55975	HP:0000512	Abnormal electroretinogram
OMIM:613731	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:613731	PRPF4	9128	HP:0001123	Visual field defect
OMIM:613731	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613731	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613731	PRPF4	9128	HP:0000518	Cataract
OMIM:613731	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613731	PRPF4	9128	HP:0000512	Abnormal electroretinogram
OMIM:613731	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:613731	PRPF3	9129	HP:0001123	Visual field defect
OMIM:613731	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613731	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613731	PRPF3	9129	HP:0000518	Cataract
OMIM:613731	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613731	PRPF3	9129	HP:0000512	Abnormal electroretinogram
OMIM:613731	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:613731	FAM161A	84140	HP:0001123	Visual field defect
OMIM:613731	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613731	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613731	FAM161A	84140	HP:0000518	Cataract
OMIM:613731	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613731	FAM161A	84140	HP:0000512	Abnormal electroretinogram
OMIM:613731	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:613731	IFT172	26160	HP:0001123	Visual field defect
OMIM:613731	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613731	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613731	IFT172	26160	HP:0000518	Cataract
OMIM:613731	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613731	IFT172	26160	HP:0000512	Abnormal electroretinogram
OMIM:613731	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:613731	KIZ	55857	HP:0001123	Visual field defect
OMIM:613731	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613731	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613731	KIZ	55857	HP:0000518	Cataract
OMIM:613731	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613731	KIZ	55857	HP:0000512	Abnormal electroretinogram
OMIM:613731	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:613731	CDHR1	92211	HP:0001123	Visual field defect
OMIM:613731	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613731	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613731	CDHR1	92211	HP:0000518	Cataract
OMIM:613731	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613731	CDHR1	92211	HP:0000512	Abnormal electroretinogram
OMIM:613731	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:613731	ZNF408	79797	HP:0001123	Visual field defect
OMIM:613731	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613731	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613731	ZNF408	79797	HP:0000518	Cataract
OMIM:613731	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613731	ZNF408	79797	HP:0000512	Abnormal electroretinogram
OMIM:613731	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:613731	RBP3	5949	HP:0001123	Visual field defect
OMIM:613731	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613731	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613731	RBP3	5949	HP:0000518	Cataract
OMIM:613731	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613731	RBP3	5949	HP:0000512	Abnormal electroretinogram
OMIM:613731	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:613731	HGSNAT	138050	HP:0001123	Visual field defect
OMIM:613731	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613731	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613731	HGSNAT	138050	HP:0000518	Cataract
OMIM:613731	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613731	HGSNAT	138050	HP:0000512	Abnormal electroretinogram
OMIM:613731	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:613731	FSCN2	25794	HP:0001123	Visual field defect
OMIM:613731	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613731	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613731	FSCN2	25794	HP:0000518	Cataract
OMIM:613731	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613731	FSCN2	25794	HP:0000512	Abnormal electroretinogram
OMIM:613731	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:613731	PRCD	768206	HP:0001123	Visual field defect
OMIM:613731	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613731	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613731	PRCD	768206	HP:0000518	Cataract
OMIM:613731	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613731	PRCD	768206	HP:0000512	Abnormal electroretinogram
OMIM:613731	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:613731	BBS2	583	HP:0001123	Visual field defect
OMIM:613731	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613731	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613731	BBS2	583	HP:0000518	Cataract
OMIM:613731	BBS2	583	HP:0000662	Nyctalopia
OMIM:613731	BBS2	583	HP:0000512	Abnormal electroretinogram
OMIM:613731	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:613731	RDH12	145226	HP:0001123	Visual field defect
OMIM:613731	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613731	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613731	RDH12	145226	HP:0000518	Cataract
OMIM:613731	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613731	RDH12	145226	HP:0000512	Abnormal electroretinogram
OMIM:613731	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:613731	PRPH2	5961	HP:0001123	Visual field defect
OMIM:613731	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613731	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613731	PRPH2	5961	HP:0000518	Cataract
OMIM:613731	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613731	PRPH2	5961	HP:0000512	Abnormal electroretinogram
OMIM:613731	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:613731	DHDDS	79947	HP:0001123	Visual field defect
OMIM:613731	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613731	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613731	DHDDS	79947	HP:0000518	Cataract
OMIM:613731	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613731	DHDDS	79947	HP:0000512	Abnormal electroretinogram
OMIM:613731	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:613731	ROM1	6094	HP:0001123	Visual field defect
OMIM:613731	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613731	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613731	ROM1	6094	HP:0000518	Cataract
OMIM:613731	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613731	ROM1	6094	HP:0000512	Abnormal electroretinogram
OMIM:613731	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:613731	C2ORF71	388939	HP:0001123	Visual field defect
OMIM:613731	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613731	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613731	C2ORF71	388939	HP:0000518	Cataract
OMIM:613731	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613731	C2ORF71	388939	HP:0000512	Abnormal electroretinogram
OMIM:613731	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:613731	RP9	6100	HP:0001123	Visual field defect
OMIM:613731	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613731	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613731	RP9	6100	HP:0000518	Cataract
OMIM:613731	RP9	6100	HP:0000662	Nyctalopia
OMIM:613731	RP9	6100	HP:0000512	Abnormal electroretinogram
OMIM:613731	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:613731	PRPF6	24148	HP:0001123	Visual field defect
OMIM:613731	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613731	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613731	PRPF6	24148	HP:0000518	Cataract
OMIM:613731	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613731	PRPF6	24148	HP:0000512	Abnormal electroretinogram
OMIM:613731	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:613731	RP1	6101	HP:0001123	Visual field defect
OMIM:613731	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613731	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613731	RP1	6101	HP:0000518	Cataract
OMIM:613731	RP1	6101	HP:0000662	Nyctalopia
OMIM:613731	RP1	6101	HP:0000512	Abnormal electroretinogram
OMIM:613731	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:613731	RP2	6102	HP:0001123	Visual field defect
OMIM:613731	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613731	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613731	RP2	6102	HP:0000518	Cataract
OMIM:613731	RP2	6102	HP:0000662	Nyctalopia
OMIM:613731	RP2	6102	HP:0000512	Abnormal electroretinogram
OMIM:613731	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:613731	RPGR	6103	HP:0001123	Visual field defect
OMIM:613731	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613731	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613731	RPGR	6103	HP:0000518	Cataract
OMIM:613731	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613731	RPGR	6103	HP:0000512	Abnormal electroretinogram
OMIM:613731	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:613731	SEMA4A	64218	HP:0001123	Visual field defect
OMIM:613731	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613731	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613731	SEMA4A	64218	HP:0000518	Cataract
OMIM:613731	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613731	SEMA4A	64218	HP:0000512	Abnormal electroretinogram
OMIM:613731	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:613731	C8ORF37	157657	HP:0001123	Visual field defect
OMIM:613731	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613731	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613731	C8ORF37	157657	HP:0000518	Cataract
OMIM:613731	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613731	C8ORF37	157657	HP:0000512	Abnormal electroretinogram
OMIM:613731	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:613731	IDH3B	3420	HP:0001123	Visual field defect
OMIM:613731	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613731	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613731	IDH3B	3420	HP:0000518	Cataract
OMIM:613731	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613731	IDH3B	3420	HP:0000512	Abnormal electroretinogram
OMIM:613731	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:613731	MERTK	10461	HP:0001123	Visual field defect
OMIM:613731	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613731	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613731	MERTK	10461	HP:0000518	Cataract
OMIM:613731	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613731	MERTK	10461	HP:0000512	Abnormal electroretinogram
OMIM:613731	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:613731	PRPF8	10594	HP:0001123	Visual field defect
OMIM:613731	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613731	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613731	PRPF8	10594	HP:0000518	Cataract
OMIM:613731	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613731	PRPF8	10594	HP:0000512	Abnormal electroretinogram
OMIM:613731	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:613731	TOPORS	10210	HP:0001123	Visual field defect
OMIM:613731	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613731	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613731	TOPORS	10210	HP:0000518	Cataract
OMIM:613731	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613731	TOPORS	10210	HP:0000512	Abnormal electroretinogram
OMIM:613731	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:613731	USH2A	7399	HP:0001123	Visual field defect
OMIM:613731	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613731	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613731	USH2A	7399	HP:0000518	Cataract
OMIM:613731	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613731	USH2A	7399	HP:0000512	Abnormal electroretinogram
OMIM:613731	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:613731	RPE65	6121	HP:0001123	Visual field defect
OMIM:613731	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613731	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613731	RPE65	6121	HP:0000518	Cataract
OMIM:613731	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613731	RPE65	6121	HP:0000512	Abnormal electroretinogram
OMIM:613731	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:613731	CLRN1	7401	HP:0001123	Visual field defect
OMIM:613731	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613731	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613731	CLRN1	7401	HP:0000518	Cataract
OMIM:613731	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613731	CLRN1	7401	HP:0000512	Abnormal electroretinogram
OMIM:613731	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:613731	CNGB1	1258	HP:0001123	Visual field defect
OMIM:613731	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613731	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613731	CNGB1	1258	HP:0000518	Cataract
OMIM:613731	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613731	CNGB1	1258	HP:0000512	Abnormal electroretinogram
OMIM:613731	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:613731	RGR	5995	HP:0001123	Visual field defect
OMIM:613731	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613731	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613731	RGR	5995	HP:0000518	Cataract
OMIM:613731	RGR	5995	HP:0000662	Nyctalopia
OMIM:613731	RGR	5995	HP:0000512	Abnormal electroretinogram
OMIM:613731	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:613731	CNGA1	1259	HP:0001123	Visual field defect
OMIM:613731	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613731	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613731	CNGA1	1259	HP:0000518	Cataract
OMIM:613731	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613731	CNGA1	1259	HP:0000512	Abnormal electroretinogram
OMIM:613731	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:613731	TUB	7275	HP:0001123	Visual field defect
OMIM:613731	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613731	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613731	TUB	7275	HP:0000518	Cataract
OMIM:613731	TUB	7275	HP:0000662	Nyctalopia
OMIM:613731	TUB	7275	HP:0000512	Abnormal electroretinogram
OMIM:613731	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:613731	SNRNP200	23020	HP:0001123	Visual field defect
OMIM:613731	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613731	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613731	SNRNP200	23020	HP:0000518	Cataract
OMIM:613731	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613731	SNRNP200	23020	HP:0000512	Abnormal electroretinogram
OMIM:613731	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:613731	SLC7A14	57709	HP:0001123	Visual field defect
OMIM:613731	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613731	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613731	SLC7A14	57709	HP:0000518	Cataract
OMIM:613731	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613731	SLC7A14	57709	HP:0000512	Abnormal electroretinogram
OMIM:613731	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:613731	TULP1	7287	HP:0001123	Visual field defect
OMIM:613731	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613731	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613731	TULP1	7287	HP:0000518	Cataract
OMIM:613731	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613731	TULP1	7287	HP:0000512	Abnormal electroretinogram
OMIM:613731	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:613731	RHO	6010	HP:0001123	Visual field defect
OMIM:613731	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613731	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613731	RHO	6010	HP:0000518	Cataract
OMIM:613731	RHO	6010	HP:0000662	Nyctalopia
OMIM:613731	RHO	6010	HP:0000512	Abnormal electroretinogram
OMIM:613731	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:613731	CA4	762	HP:0001123	Visual field defect
OMIM:613731	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613731	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613731	CA4	762	HP:0000518	Cataract
OMIM:613731	CA4	762	HP:0000662	Nyctalopia
OMIM:613731	CA4	762	HP:0000512	Abnormal electroretinogram
OMIM:613731	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:613731	CRB1	23418	HP:0001123	Visual field defect
OMIM:613731	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613731	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613731	CRB1	23418	HP:0000518	Cataract
OMIM:613731	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613731	CRB1	23418	HP:0000512	Abnormal electroretinogram
OMIM:613731	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:613731	IMPG2	50939	HP:0001123	Visual field defect
OMIM:613731	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613731	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613731	IMPG2	50939	HP:0000518	Cataract
OMIM:613731	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613731	IMPG2	50939	HP:0000512	Abnormal electroretinogram
OMIM:613731	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:613731	ZNF513	130557	HP:0001123	Visual field defect
OMIM:613731	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613731	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613731	ZNF513	130557	HP:0000518	Cataract
OMIM:613731	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613731	ZNF513	130557	HP:0000512	Abnormal electroretinogram
OMIM:613731	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:613731	CRX	1406	HP:0001123	Visual field defect
OMIM:613731	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613731	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613731	CRX	1406	HP:0000518	Cataract
OMIM:613731	CRX	1406	HP:0000662	Nyctalopia
OMIM:613731	CRX	1406	HP:0000512	Abnormal electroretinogram
OMIM:613731	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:245340	SLC16A1	6566	HP:0003710	Exercise-induced muscle cramps
OMIM:245340	SLC16A1	6566	HP:0003236	Elevated serum creatine phosphokinase
OMIM:245340	SLC16A1	6566	HP:0000006	Autosomal dominant inheritance
OMIM:148190	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:148190	PAX6	5080	HP:0007759	Opacification of the corneal stroma
OMIM:148190	PAX6	5080	HP:0000491	Keratitis
OMIM:613724	SCP2	6342	HP:0002450	Abnormal motor neuron morphology
OMIM:613724	SCP2	6342	HP:0004409	Hyposmia
OMIM:613724	SCP2	6342	HP:0000815	Hypergonadotropic hypogonadism
OMIM:613724	SCP2	6342	HP:0000473	Torticollis
OMIM:613724	SCP2	6342	HP:0002352	Leukoencephalopathy
OMIM:613724	SCP2	6342	HP:0009830	Peripheral neuropathy
OMIM:613724	SCP2	6342	HP:0000027	Azoospermia
OMIM:613724	SCP2	6342	HP:0000570	Abnormality of saccadic eye movements
OMIM:144200	KRT9	3857	HP:0000964	Eczema
OMIM:144200	KRT9	3857	HP:0000006	Autosomal dominant inheritance
OMIM:144200	KRT9	3857	HP:0000975	Hyperhidrosis
OMIM:144200	KRT9	3857	HP:0001231	Abnormality of the fingernails
OMIM:144200	KRT9	3857	HP:0000982	Palmoplantar keratoderma
OMIM:144200	KRT9	3857	HP:0200043	Verrucae
OMIM:144200	KRT1	3848	HP:0000964	Eczema
OMIM:144200	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:144200	KRT1	3848	HP:0000975	Hyperhidrosis
OMIM:144200	KRT1	3848	HP:0001231	Abnormality of the fingernails
OMIM:144200	KRT1	3848	HP:0000982	Palmoplantar keratoderma
OMIM:144200	KRT1	3848	HP:0200043	Verrucae
OMIM:144200	KRT16	3868	HP:0000964	Eczema
OMIM:144200	KRT16	3868	HP:0000006	Autosomal dominant inheritance
OMIM:144200	KRT16	3868	HP:0000975	Hyperhidrosis
OMIM:144200	KRT16	3868	HP:0001231	Abnormality of the fingernails
OMIM:144200	KRT16	3868	HP:0000982	Palmoplantar keratoderma
OMIM:144200	KRT16	3868	HP:0200043	Verrucae
OMIM:212500	CRYBA2	1412	HP:0000007	Autosomal recessive inheritance
OMIM:212500	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:212500	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:212500	AGK	55750	HP:0000519	Congenital cataract
OMIM:212500	GCNT2	2651	HP:0000007	Autosomal recessive inheritance
OMIM:212500	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:601776	CHST14	113189	HP:0000482	Microcornea
OMIM:601776	CHST14	113189	HP:0001762	Talipes equinovarus
OMIM:601776	CHST14	113189	HP:0000501	Glaucoma
OMIM:601776	CHST14	113189	HP:0000218	High palate
OMIM:601776	CHST14	113189	HP:0000100	Nephrotic syndrome
OMIM:601776	CHST14	113189	HP:0000545	Myopia
OMIM:601776	CHST14	113189	HP:0001030	Fragile skin
OMIM:601776	CHST14	113189	HP:0002566	Intestinal malrotation
OMIM:601776	CHST14	113189	HP:0000506	Telecanthus
OMIM:601776	CHST14	113189	HP:0002650	Scoliosis
OMIM:601776	CHST14	113189	HP:0000308	Microretrognathia
OMIM:601776	CHST14	113189	HP:0001581	Recurrent skin infections
OMIM:601776	CHST14	113189	HP:0000219	Thin upper lip vermilion
OMIM:601776	CHST14	113189	HP:0000365	Hearing impairment
OMIM:601776	CHST14	113189	HP:0000767	Pectus excavatum
OMIM:601776	CHST14	113189	HP:0000974	Hyperextensible skin
OMIM:601776	CHST14	113189	HP:0001263	Global developmental delay
OMIM:601776	CHST14	113189	HP:0000541	Retinal detachment
OMIM:601776	CHST14	113189	HP:0002019	Constipation
OMIM:601776	CHST14	113189	HP:0001631	Atria septal defect
OMIM:601776	CHST14	113189	HP:0000007	Autosomal recessive inheritance
OMIM:601776	CHST14	113189	HP:0000411	Protruding ear
OMIM:601776	CHST14	113189	HP:0001388	Joint laxity
OMIM:601776	CHST14	113189	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601776	CHST14	113189	HP:0000028	Cryptorchidism
OMIM:601776	CHST14	113189	HP:0002246	Abnormality of the duodenum
OMIM:601776	CHST14	113189	HP:0000248	Brachycephaly
OMIM:601776	CHST14	113189	HP:0000270	Delayed cranial suture closure
OMIM:601776	CHST14	113189	HP:0001373	Joint dislocation
OMIM:601776	CHST14	113189	HP:0000324	Facial asymmetry
OMIM:601776	CHST14	113189	HP:0000239	Large fontanelles
OMIM:601776	CHST14	113189	HP:0001252	Muscular hypotonia
OMIM:601776	CHST14	113189	HP:0000175	Cleft palate
OMIM:601776	CHST14	113189	HP:0000316	Hypertelorism
OMIM:601776	CHST14	113189	HP:0001166	Arachnodactyly
OMIM:601776	CHST14	113189	HP:0000978	Bruising susceptibility
OMIM:601776	CHST14	113189	HP:0000337	Broad forehead
OMIM:601776	CHST14	113189	HP:0001181	Adducted thumb
OMIM:601776	CHST14	113189	HP:0000358	Posteriorly rotated ears
OMIM:601776	CHST14	113189	HP:0000486	Strabismus
OMIM:601776	CHST14	113189	HP:0002119	Ventriculomegaly
OMIM:601776	CHST14	113189	HP:0000593	Abnormality of the anterior chamber
OMIM:601776	CHST14	113189	HP:0001537	Umbilical hernia
OMIM:601776	CHST14	113189	HP:0000343	Long philtrum
OMIM:601776	CHST14	113189	HP:0001249	Intellectual disability
OMIM:601776	CHST14	113189	HP:0100699	Scarring
OMIM:601776	CHST14	113189	HP:0000494	Downslanted palpebral fissures
OMIM:601776	CHST14	113189	HP:0000592	Blue sclerae
OMIM:601776	CHST14	113189	HP:0000160	Narrow mouth
OMIM:601776	CHST14	113189	HP:0001270	Motor delay
OMIM:601776	CHST14	113189	HP:0000126	Hydronephrosis
OMIM:601776	DSE	29940	HP:0000482	Microcornea
OMIM:601776	DSE	29940	HP:0001762	Talipes equinovarus
OMIM:601776	DSE	29940	HP:0000501	Glaucoma
OMIM:601776	DSE	29940	HP:0000218	High palate
OMIM:601776	DSE	29940	HP:0000100	Nephrotic syndrome
OMIM:601776	DSE	29940	HP:0000545	Myopia
OMIM:601776	DSE	29940	HP:0001030	Fragile skin
OMIM:601776	DSE	29940	HP:0002566	Intestinal malrotation
OMIM:601776	DSE	29940	HP:0000506	Telecanthus
OMIM:601776	DSE	29940	HP:0002650	Scoliosis
OMIM:601776	DSE	29940	HP:0000308	Microretrognathia
OMIM:601776	DSE	29940	HP:0001581	Recurrent skin infections
OMIM:601776	DSE	29940	HP:0000219	Thin upper lip vermilion
OMIM:601776	DSE	29940	HP:0000365	Hearing impairment
OMIM:601776	DSE	29940	HP:0000767	Pectus excavatum
OMIM:601776	DSE	29940	HP:0000974	Hyperextensible skin
OMIM:601776	DSE	29940	HP:0001263	Global developmental delay
OMIM:601776	DSE	29940	HP:0000541	Retinal detachment
OMIM:601776	DSE	29940	HP:0002019	Constipation
OMIM:601776	DSE	29940	HP:0001631	Atria septal defect
OMIM:601776	DSE	29940	HP:0000007	Autosomal recessive inheritance
OMIM:601776	DSE	29940	HP:0000411	Protruding ear
OMIM:601776	DSE	29940	HP:0001388	Joint laxity
OMIM:601776	DSE	29940	HP:0002804	Arthrogryposis multiplex congenita
OMIM:601776	DSE	29940	HP:0000028	Cryptorchidism
OMIM:601776	DSE	29940	HP:0002246	Abnormality of the duodenum
OMIM:601776	DSE	29940	HP:0000248	Brachycephaly
OMIM:601776	DSE	29940	HP:0000270	Delayed cranial suture closure
OMIM:601776	DSE	29940	HP:0001373	Joint dislocation
OMIM:601776	DSE	29940	HP:0000324	Facial asymmetry
OMIM:601776	DSE	29940	HP:0000239	Large fontanelles
OMIM:601776	DSE	29940	HP:0001252	Muscular hypotonia
OMIM:601776	DSE	29940	HP:0000175	Cleft palate
OMIM:601776	DSE	29940	HP:0000316	Hypertelorism
OMIM:601776	DSE	29940	HP:0001166	Arachnodactyly
OMIM:601776	DSE	29940	HP:0000978	Bruising susceptibility
OMIM:601776	DSE	29940	HP:0000337	Broad forehead
OMIM:601776	DSE	29940	HP:0001181	Adducted thumb
OMIM:601776	DSE	29940	HP:0000358	Posteriorly rotated ears
OMIM:601776	DSE	29940	HP:0000486	Strabismus
OMIM:601776	DSE	29940	HP:0002119	Ventriculomegaly
OMIM:601776	DSE	29940	HP:0000593	Abnormality of the anterior chamber
OMIM:601776	DSE	29940	HP:0001537	Umbilical hernia
OMIM:601776	DSE	29940	HP:0000343	Long philtrum
OMIM:601776	DSE	29940	HP:0001249	Intellectual disability
OMIM:601776	DSE	29940	HP:0100699	Scarring
OMIM:601776	DSE	29940	HP:0000494	Downslanted palpebral fissures
OMIM:601776	DSE	29940	HP:0000592	Blue sclerae
OMIM:601776	DSE	29940	HP:0000160	Narrow mouth
OMIM:601776	DSE	29940	HP:0001270	Motor delay
OMIM:601776	DSE	29940	HP:0000126	Hydronephrosis
OMIM:615595	LYRM4	57128	HP:0001319	Neonatal hypotonia
OMIM:615595	LYRM4	57128	HP:0011968	Feeding difficulties
OMIM:615595	LYRM4	57128	HP:0000007	Autosomal recessive inheritance
OMIM:615595	LYRM4	57128	HP:0001508	Failure to thrive
OMIM:615595	LYRM4	57128	HP:0001397	Hepatic steatosis
OMIM:615595	LYRM4	57128	HP:0002098	Respiratory distress
OMIM:615595	LYRM4	57128	HP:0003128	Lactic acidosis
OMIM:615595	NFS1	9054	HP:0001319	Neonatal hypotonia
OMIM:615595	NFS1	9054	HP:0011968	Feeding difficulties
OMIM:615595	NFS1	9054	HP:0000007	Autosomal recessive inheritance
OMIM:615595	NFS1	9054	HP:0001508	Failure to thrive
OMIM:615595	NFS1	9054	HP:0001397	Hepatic steatosis
OMIM:615595	NFS1	9054	HP:0002098	Respiratory distress
OMIM:615595	NFS1	9054	HP:0003128	Lactic acidosis
OMIM:610374	ABCC8	6833	HP:0005978	Type II diabetes mellitus
OMIM:610374	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:610374	HYMAI	57061	HP:0005978	Type II diabetes mellitus
OMIM:610374	HYMAI	57061	HP:0000006	Autosomal dominant inheritance
OMIM:610374	KCNJ11	3767	HP:0005978	Type II diabetes mellitus
OMIM:610374	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:610374	PLAGL1	5325	HP:0005978	Type II diabetes mellitus
OMIM:610374	PLAGL1	5325	HP:0000006	Autosomal dominant inheritance
OMIM:610374	ZFP57	346171	HP:0005978	Type II diabetes mellitus
OMIM:610374	ZFP57	346171	HP:0000006	Autosomal dominant inheritance
OMIM:190320	DLX3	1747	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:190320	DLX3	1747	HP:0010620	Malar prominence
OMIM:190320	DLX3	1747	HP:0011001	Increased bone mineral density
OMIM:190320	DLX3	1747	HP:0000684	Delayed eruption of teeth
OMIM:190320	DLX3	1747	HP:0002224	Woolly hair
OMIM:190320	DLX3	1747	HP:0002007	Frontal bossing
OMIM:190320	DLX3	1747	HP:0001595	Abnormality of the hair
OMIM:190320	DLX3	1747	HP:0000006	Autosomal dominant inheritance
OMIM:190320	DLX3	1747	HP:0000311	Round face
OMIM:190320	DLX3	1747	HP:0000687	Widely spaced teeth
OMIM:190320	DLX3	1747	HP:0004493	Craniofacial hyperostosis
OMIM:190320	DLX3	1747	HP:0002750	Delayed skeletal maturation
OMIM:190320	DLX3	1747	HP:0000691	Microdontia
OMIM:190320	DLX3	1747	HP:0000268	Dolichocephaly
OMIM:190320	DLX3	1747	HP:0000679	Taurodontia
OMIM:190320	DLX3	1747	HP:0000682	Abnormality of dental enamel
OMIM:190320	DLX3	1747	HP:0002997	Abnormality of the ulna
OMIM:190320	DLX3	1747	HP:0000670	Carious teeth
OMIM:190320	DLX3	1747	HP:0001231	Abnormality of the fingernails
OMIM:613193	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:613193	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:613193	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:613193	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:613193	DNAAF2	55172	HP:0002837	Recurrent bronchitis
OMIM:613193	DNAAF2	55172	HP:0000789	Infertility
OMIM:613193	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:613193	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:613193	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:613193	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:613193	CCNO	10309	HP:0000246	Sinusitis
OMIM:613193	CCNO	10309	HP:0002837	Recurrent bronchitis
OMIM:613193	CCNO	10309	HP:0000789	Infertility
OMIM:613193	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:613193	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:613193	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:613193	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:613193	DNAAF5	54919	HP:0002837	Recurrent bronchitis
OMIM:613193	DNAAF5	54919	HP:0000789	Infertility
OMIM:613193	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:613193	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:613193	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:613193	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:613193	DNAAF3	352909	HP:0002837	Recurrent bronchitis
OMIM:613193	DNAAF3	352909	HP:0000789	Infertility
OMIM:613193	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:613193	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:613193	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:613193	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DNAI1	27019	HP:0000246	Sinusitis
OMIM:613193	DNAI1	27019	HP:0002837	Recurrent bronchitis
OMIM:613193	DNAI1	27019	HP:0000789	Infertility
OMIM:613193	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:613193	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:613193	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:613193	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DRC1	92749	HP:0000246	Sinusitis
OMIM:613193	DRC1	92749	HP:0002837	Recurrent bronchitis
OMIM:613193	DRC1	92749	HP:0000789	Infertility
OMIM:613193	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:613193	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:613193	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:613193	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:613193	SPAG1	6674	HP:0000246	Sinusitis
OMIM:613193	SPAG1	6674	HP:0002837	Recurrent bronchitis
OMIM:613193	SPAG1	6674	HP:0000789	Infertility
OMIM:613193	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:613193	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:613193	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:613193	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:613193	RSPH3	83861	HP:0000246	Sinusitis
OMIM:613193	RSPH3	83861	HP:0002837	Recurrent bronchitis
OMIM:613193	RSPH3	83861	HP:0000789	Infertility
OMIM:613193	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:613193	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:613193	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:613193	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613193	RPGR	6103	HP:0000246	Sinusitis
OMIM:613193	RPGR	6103	HP:0002837	Recurrent bronchitis
OMIM:613193	RPGR	6103	HP:0000789	Infertility
OMIM:613193	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:613193	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:613193	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:613193	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:613193	LRRC6	23639	HP:0000246	Sinusitis
OMIM:613193	LRRC6	23639	HP:0002837	Recurrent bronchitis
OMIM:613193	LRRC6	23639	HP:0000789	Infertility
OMIM:613193	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:613193	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:613193	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:613193	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DNAL1	83544	HP:0000246	Sinusitis
OMIM:613193	DNAL1	83544	HP:0002837	Recurrent bronchitis
OMIM:613193	DNAL1	83544	HP:0000789	Infertility
OMIM:613193	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:613193	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:613193	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:613193	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:613193	ARMC4	55130	HP:0000246	Sinusitis
OMIM:613193	ARMC4	55130	HP:0002837	Recurrent bronchitis
OMIM:613193	ARMC4	55130	HP:0000789	Infertility
OMIM:613193	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:613193	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:613193	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:613193	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:613193	CCDC103	388389	HP:0000246	Sinusitis
OMIM:613193	CCDC103	388389	HP:0002837	Recurrent bronchitis
OMIM:613193	CCDC103	388389	HP:0000789	Infertility
OMIM:613193	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:613193	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:613193	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:613193	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:613193	DNAAF1	123872	HP:0002837	Recurrent bronchitis
OMIM:613193	DNAAF1	123872	HP:0000789	Infertility
OMIM:613193	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:613193	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:613193	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:613193	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613193	OFD1	8481	HP:0000246	Sinusitis
OMIM:613193	OFD1	8481	HP:0002837	Recurrent bronchitis
OMIM:613193	OFD1	8481	HP:0000789	Infertility
OMIM:613193	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:613193	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:613193	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:613193	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:613193	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:613193	RSPH4A	345895	HP:0002837	Recurrent bronchitis
OMIM:613193	RSPH4A	345895	HP:0000789	Infertility
OMIM:613193	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:613193	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:613193	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:613193	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:613193	RSPH1	89765	HP:0000246	Sinusitis
OMIM:613193	RSPH1	89765	HP:0002837	Recurrent bronchitis
OMIM:613193	RSPH1	89765	HP:0000789	Infertility
OMIM:613193	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:613193	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:613193	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:613193	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:613193	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:613193	ZMYND10	51364	HP:0002837	Recurrent bronchitis
OMIM:613193	ZMYND10	51364	HP:0000789	Infertility
OMIM:613193	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:613193	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:613193	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:613193	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DNAH5	1767	HP:0000246	Sinusitis
OMIM:613193	DNAH5	1767	HP:0002837	Recurrent bronchitis
OMIM:613193	DNAH5	1767	HP:0000789	Infertility
OMIM:613193	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:613193	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:613193	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:613193	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:613193	CCDC65	85478	HP:0000246	Sinusitis
OMIM:613193	CCDC65	85478	HP:0002837	Recurrent bronchitis
OMIM:613193	CCDC65	85478	HP:0000789	Infertility
OMIM:613193	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:613193	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:613193	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:613193	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:613193	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:613193	C21ORF59	56683	HP:0002837	Recurrent bronchitis
OMIM:613193	C21ORF59	56683	HP:0000789	Infertility
OMIM:613193	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:613193	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:613193	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:613193	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:613193	DYX1C1	161582	HP:0002837	Recurrent bronchitis
OMIM:613193	DYX1C1	161582	HP:0000789	Infertility
OMIM:613193	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:613193	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:613193	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:613193	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:613193	CCDC151	115948	HP:0000246	Sinusitis
OMIM:613193	CCDC151	115948	HP:0002837	Recurrent bronchitis
OMIM:613193	CCDC151	115948	HP:0000789	Infertility
OMIM:613193	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:613193	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:613193	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:613193	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:613193	RSPH9	221421	HP:0000246	Sinusitis
OMIM:613193	RSPH9	221421	HP:0002837	Recurrent bronchitis
OMIM:613193	RSPH9	221421	HP:0000789	Infertility
OMIM:613193	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:613193	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:613193	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:613193	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:613193	CCDC39	339829	HP:0000246	Sinusitis
OMIM:613193	CCDC39	339829	HP:0002837	Recurrent bronchitis
OMIM:613193	CCDC39	339829	HP:0000789	Infertility
OMIM:613193	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:613193	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:613193	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:613193	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:613193	HYDIN	54768	HP:0000246	Sinusitis
OMIM:613193	HYDIN	54768	HP:0002837	Recurrent bronchitis
OMIM:613193	HYDIN	54768	HP:0000789	Infertility
OMIM:613193	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:613193	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:613193	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:613193	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:613193	CCDC114	93233	HP:0000246	Sinusitis
OMIM:613193	CCDC114	93233	HP:0002837	Recurrent bronchitis
OMIM:613193	CCDC114	93233	HP:0000789	Infertility
OMIM:613193	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:613193	NME8	51314	HP:0002110	Bronchiectasis
OMIM:613193	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:613193	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:613193	NME8	51314	HP:0000246	Sinusitis
OMIM:613193	NME8	51314	HP:0002837	Recurrent bronchitis
OMIM:613193	NME8	51314	HP:0000789	Infertility
OMIM:613193	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:613193	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:613193	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:613193	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:613193	CCDC40	55036	HP:0000246	Sinusitis
OMIM:613193	CCDC40	55036	HP:0002837	Recurrent bronchitis
OMIM:613193	CCDC40	55036	HP:0000789	Infertility
OMIM:613193	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:613193	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:613193	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:613193	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DNAH11	8701	HP:0000246	Sinusitis
OMIM:613193	DNAH11	8701	HP:0002837	Recurrent bronchitis
OMIM:613193	DNAH11	8701	HP:0000789	Infertility
OMIM:613193	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:613193	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:613193	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:613193	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:613193	DNAI2	64446	HP:0000246	Sinusitis
OMIM:613193	DNAI2	64446	HP:0002837	Recurrent bronchitis
OMIM:613193	DNAI2	64446	HP:0000789	Infertility
OMIM:613193	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:613193	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:613193	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:613193	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:613193	GAS8	2622	HP:0000246	Sinusitis
OMIM:613193	GAS8	2622	HP:0002837	Recurrent bronchitis
OMIM:613193	GAS8	2622	HP:0000789	Infertility
ORPHANET:2248	GJA1	2697	HP:0001679	Abnormality of the aorta
ORPHANET:2248	GJA1	2697	HP:0001643	Patent ductus arteriosus
ORPHANET:2248	GJA1	2697	HP:0002916	Abnormality of chromosome segregation
ORPHANET:2248	GJA1	2697	HP:0001633	Abnormality of the mitral valve
ORPHANET:2248	GJA1	2697	HP:0009800	Maternal diabetes
ORPHANET:2248	GJA1	2697	HP:0004383	Hypoplastic left heart
ORPHANET:2248	GJA1	2697	HP:0001631	Atria septal defect
ORPHANET:2248	NKX2-5	1482	HP:0001679	Abnormality of the aorta
ORPHANET:2248	NKX2-5	1482	HP:0001643	Patent ductus arteriosus
ORPHANET:2248	NKX2-5	1482	HP:0002916	Abnormality of chromosome segregation
ORPHANET:2248	NKX2-5	1482	HP:0001633	Abnormality of the mitral valve
ORPHANET:2248	NKX2-5	1482	HP:0009800	Maternal diabetes
ORPHANET:2248	NKX2-5	1482	HP:0004383	Hypoplastic left heart
ORPHANET:2248	NKX2-5	1482	HP:0001631	Atria septal defect
ORPHANET:379	CYBB	1536	HP:0001874	Abnormality of neutrophils
ORPHANET:379	CYBB	1536	HP:0100721	Mediastinal lymphadenopathy
ORPHANET:379	CYBB	1536	HP:0001287	Meningitis
ORPHANET:379	CYBB	1536	HP:0002024	Malabsorption
ORPHANET:379	CYBB	1536	HP:0004370	Abnormality of temperature regulation
ORPHANET:379	CYBB	1536	HP:0002575	Tracheoesophageal fistula
ORPHANET:379	CYBB	1536	HP:0000992	Cutaneous photosensitivity
ORPHANET:379	CYBB	1536	HP:0002240	Hepatomegaly
ORPHANET:379	CYBB	1536	HP:0000388	Otitis media
ORPHANET:379	CYBB	1536	HP:0002021	Pyloric stenosis
ORPHANET:379	CYBB	1536	HP:0000246	Sinusitis
ORPHANET:379	CYBB	1536	HP:0000964	Eczema
ORPHANET:379	CYBB	1536	HP:0100806	Sepsis
ORPHANET:379	CYBB	1536	HP:0001025	Urticaria
ORPHANET:379	CYBB	1536	HP:0001034	Hypermelanotic macule
ORPHANET:379	CYBB	1536	HP:0001744	Splenomegaly
ORPHANET:379	CYBB	1536	HP:0000230	Gingivitis
ORPHANET:379	CYBB	1536	HP:0002205	Recurrent respiratory infections
ORPHANET:379	CYBB	1536	HP:0200042	Skin ulcer
ORPHANET:379	CYBB	1536	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:379	CYBB	1536	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:379	CYBB	1536	HP:0100523	Liver abscess
ORPHANET:379	NCF2	4688	HP:0001874	Abnormality of neutrophils
ORPHANET:379	NCF2	4688	HP:0100721	Mediastinal lymphadenopathy
ORPHANET:379	NCF2	4688	HP:0001287	Meningitis
ORPHANET:379	NCF2	4688	HP:0002024	Malabsorption
ORPHANET:379	NCF2	4688	HP:0004370	Abnormality of temperature regulation
ORPHANET:379	NCF2	4688	HP:0002575	Tracheoesophageal fistula
ORPHANET:379	NCF2	4688	HP:0000992	Cutaneous photosensitivity
ORPHANET:379	NCF2	4688	HP:0002240	Hepatomegaly
ORPHANET:379	NCF2	4688	HP:0000388	Otitis media
ORPHANET:379	NCF2	4688	HP:0002021	Pyloric stenosis
ORPHANET:379	NCF2	4688	HP:0000246	Sinusitis
ORPHANET:379	NCF2	4688	HP:0000964	Eczema
ORPHANET:379	NCF2	4688	HP:0100806	Sepsis
ORPHANET:379	NCF2	4688	HP:0001025	Urticaria
ORPHANET:379	NCF2	4688	HP:0001034	Hypermelanotic macule
ORPHANET:379	NCF2	4688	HP:0001744	Splenomegaly
ORPHANET:379	NCF2	4688	HP:0000230	Gingivitis
ORPHANET:379	NCF2	4688	HP:0002205	Recurrent respiratory infections
ORPHANET:379	NCF2	4688	HP:0200042	Skin ulcer
ORPHANET:379	NCF2	4688	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:379	NCF2	4688	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:379	NCF2	4688	HP:0100523	Liver abscess
ORPHANET:379	NCF4	4689	HP:0001874	Abnormality of neutrophils
ORPHANET:379	NCF4	4689	HP:0100721	Mediastinal lymphadenopathy
ORPHANET:379	NCF4	4689	HP:0001287	Meningitis
ORPHANET:379	NCF4	4689	HP:0002024	Malabsorption
ORPHANET:379	NCF4	4689	HP:0004370	Abnormality of temperature regulation
ORPHANET:379	NCF4	4689	HP:0002575	Tracheoesophageal fistula
ORPHANET:379	NCF4	4689	HP:0000992	Cutaneous photosensitivity
ORPHANET:379	NCF4	4689	HP:0002240	Hepatomegaly
ORPHANET:379	NCF4	4689	HP:0000388	Otitis media
ORPHANET:379	NCF4	4689	HP:0002021	Pyloric stenosis
ORPHANET:379	NCF4	4689	HP:0000246	Sinusitis
ORPHANET:379	NCF4	4689	HP:0000964	Eczema
ORPHANET:379	NCF4	4689	HP:0100806	Sepsis
ORPHANET:379	NCF4	4689	HP:0001025	Urticaria
ORPHANET:379	NCF4	4689	HP:0001034	Hypermelanotic macule
ORPHANET:379	NCF4	4689	HP:0001744	Splenomegaly
ORPHANET:379	NCF4	4689	HP:0000230	Gingivitis
ORPHANET:379	NCF4	4689	HP:0002205	Recurrent respiratory infections
ORPHANET:379	NCF4	4689	HP:0200042	Skin ulcer
ORPHANET:379	NCF4	4689	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:379	NCF4	4689	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:379	NCF4	4689	HP:0100523	Liver abscess
ORPHANET:379	NCF1	653361	HP:0001874	Abnormality of neutrophils
ORPHANET:379	NCF1	653361	HP:0100721	Mediastinal lymphadenopathy
ORPHANET:379	NCF1	653361	HP:0001287	Meningitis
ORPHANET:379	NCF1	653361	HP:0002024	Malabsorption
ORPHANET:379	NCF1	653361	HP:0004370	Abnormality of temperature regulation
ORPHANET:379	NCF1	653361	HP:0002575	Tracheoesophageal fistula
ORPHANET:379	NCF1	653361	HP:0000992	Cutaneous photosensitivity
ORPHANET:379	NCF1	653361	HP:0002240	Hepatomegaly
ORPHANET:379	NCF1	653361	HP:0000388	Otitis media
ORPHANET:379	NCF1	653361	HP:0002021	Pyloric stenosis
ORPHANET:379	NCF1	653361	HP:0000246	Sinusitis
ORPHANET:379	NCF1	653361	HP:0000964	Eczema
ORPHANET:379	NCF1	653361	HP:0100806	Sepsis
ORPHANET:379	NCF1	653361	HP:0001025	Urticaria
ORPHANET:379	NCF1	653361	HP:0001034	Hypermelanotic macule
ORPHANET:379	NCF1	653361	HP:0001744	Splenomegaly
ORPHANET:379	NCF1	653361	HP:0000230	Gingivitis
ORPHANET:379	NCF1	653361	HP:0002205	Recurrent respiratory infections
ORPHANET:379	NCF1	653361	HP:0200042	Skin ulcer
ORPHANET:379	NCF1	653361	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:379	NCF1	653361	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:379	NCF1	653361	HP:0100523	Liver abscess
ORPHANET:379	CYBA	1535	HP:0001874	Abnormality of neutrophils
ORPHANET:379	CYBA	1535	HP:0100721	Mediastinal lymphadenopathy
ORPHANET:379	CYBA	1535	HP:0001287	Meningitis
ORPHANET:379	CYBA	1535	HP:0002024	Malabsorption
ORPHANET:379	CYBA	1535	HP:0004370	Abnormality of temperature regulation
ORPHANET:379	CYBA	1535	HP:0002575	Tracheoesophageal fistula
ORPHANET:379	CYBA	1535	HP:0000992	Cutaneous photosensitivity
ORPHANET:379	CYBA	1535	HP:0002240	Hepatomegaly
ORPHANET:379	CYBA	1535	HP:0000388	Otitis media
ORPHANET:379	CYBA	1535	HP:0002021	Pyloric stenosis
ORPHANET:379	CYBA	1535	HP:0000246	Sinusitis
ORPHANET:379	CYBA	1535	HP:0000964	Eczema
ORPHANET:379	CYBA	1535	HP:0100806	Sepsis
ORPHANET:379	CYBA	1535	HP:0001025	Urticaria
ORPHANET:379	CYBA	1535	HP:0001034	Hypermelanotic macule
ORPHANET:379	CYBA	1535	HP:0001744	Splenomegaly
ORPHANET:379	CYBA	1535	HP:0000230	Gingivitis
ORPHANET:379	CYBA	1535	HP:0002205	Recurrent respiratory infections
ORPHANET:379	CYBA	1535	HP:0200042	Skin ulcer
ORPHANET:379	CYBA	1535	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:379	CYBA	1535	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:379	CYBA	1535	HP:0100523	Liver abscess
OMIM:207800	ARG1	383	HP:0001263	Global developmental delay
OMIM:207800	ARG1	383	HP:0001987	Hyperammonemia
OMIM:207800	ARG1	383	HP:0003218	Oroticaciduria
OMIM:207800	ARG1	383	HP:0000737	Irritability
OMIM:207800	ARG1	383	HP:0001249	Intellectual disability
OMIM:207800	ARG1	383	HP:0001250	Seizures
OMIM:207800	ARG1	383	HP:0002039	Anorexia
OMIM:207800	ARG1	383	HP:0004374	Hemiplegia/hemiparesis
OMIM:207800	ARG1	383	HP:0002353	EEG abnormality
OMIM:207800	ARG1	383	HP:0000708	Behavioral abnormality
OMIM:207800	ARG1	383	HP:0002167	Neurological speech impairment
OMIM:207800	ARG1	383	HP:0000752	Hyperactivity
OMIM:207800	ARG1	383	HP:0008897	Postnatal growth retardation
OMIM:207800	ARG1	383	HP:0002013	Vomiting
OMIM:207800	ARG1	383	HP:0000007	Autosomal recessive inheritance
OMIM:207800	ARG1	383	HP:0100543	Cognitive impairment
OMIM:207800	ARG1	383	HP:0003355	Aminoaciduria
OMIM:615934	TMEM173	340061	HP:0001903	Anemia
OMIM:615934	TMEM173	340061	HP:0001508	Failure to thrive
OMIM:615934	TMEM173	340061	HP:0003326	Myalgia
OMIM:615934	TMEM173	340061	HP:0001882	Leukopenia
OMIM:615934	TMEM173	340061	HP:0002829	Arthralgia
OMIM:615934	TMEM173	340061	HP:0001009	Telangiectasia
OMIM:615934	TMEM173	340061	HP:0001894	Thrombocytosis
OMIM:615934	TMEM173	340061	HP:0001387	Joint stiffness
OMIM:615934	TMEM173	340061	HP:0001945	Fever
OMIM:615934	TMEM173	340061	HP:0000965	Cutis marmorata
OMIM:615934	TMEM173	340061	HP:0002205	Recurrent respiratory infections
OMIM:615934	TMEM173	340061	HP:0008404	Nail dystrophy
OMIM:615934	TMEM173	340061	HP:0001510	Growth delay
OMIM:615934	TMEM173	340061	HP:0010702	Increased antibody level in blood
OMIM:610965	ERCC4	2072	HP:0000958	Dry skin
OMIM:610965	ERCC4	2072	HP:0002370	Poor coordination
OMIM:610965	ERCC4	2072	HP:0002910	Elevated hepatic transaminases
OMIM:610965	ERCC4	2072	HP:0001256	Intellectual disability, mild
OMIM:610965	ERCC4	2072	HP:0000490	Deeply set eye
OMIM:610965	ERCC4	2072	HP:0007495	Prematurely aged appearance
OMIM:610965	ERCC4	2072	HP:0000252	Microcephaly
OMIM:610965	ERCC4	2072	HP:0001541	Ascites
OMIM:610965	ERCC4	2072	HP:0000505	Visual impairment
OMIM:610965	ERCC4	2072	HP:0001620	High pitched voice
OMIM:610965	ERCC4	2072	HP:0006297	Hypoplasia of dental enamel
OMIM:610965	ERCC4	2072	HP:0000822	Hypertension
OMIM:610965	ERCC4	2072	HP:0000365	Hearing impairment
OMIM:610965	ERCC4	2072	HP:0000648	Optic atrophy
OMIM:610965	ERCC4	2072	HP:0003510	Severe short stature
OMIM:616468	FZD4	8322	HP:0000533	Chorioretinal atrophy
OMIM:616468	FZD4	8322	HP:0000545	Myopia
OMIM:616468	FZD4	8322	HP:0000518	Cataract
OMIM:616468	FZD4	8322	HP:0000529	Progressive visual loss
OMIM:616468	TSPAN12	23554	HP:0000533	Chorioretinal atrophy
OMIM:616468	TSPAN12	23554	HP:0000545	Myopia
OMIM:616468	TSPAN12	23554	HP:0000518	Cataract
OMIM:616468	TSPAN12	23554	HP:0000529	Progressive visual loss
OMIM:616468	ZNF408	79797	HP:0000533	Chorioretinal atrophy
OMIM:616468	ZNF408	79797	HP:0000545	Myopia
OMIM:616468	ZNF408	79797	HP:0000518	Cataract
OMIM:616468	ZNF408	79797	HP:0000529	Progressive visual loss
OMIM:616468	NDP	4693	HP:0000533	Chorioretinal atrophy
OMIM:616468	NDP	4693	HP:0000545	Myopia
OMIM:616468	NDP	4693	HP:0000518	Cataract
OMIM:616468	NDP	4693	HP:0000529	Progressive visual loss
OMIM:616468	LRP5	4041	HP:0000533	Chorioretinal atrophy
OMIM:616468	LRP5	4041	HP:0000545	Myopia
OMIM:616468	LRP5	4041	HP:0000518	Cataract
OMIM:616468	LRP5	4041	HP:0000529	Progressive visual loss
OMIM:301000	WIPF1	7456	HP:0000967	Petechiae
OMIM:301000	WIPF1	7456	HP:0000112	Nephropathy
OMIM:301000	WIPF1	7456	HP:0001287	Meningitis
OMIM:301000	WIPF1	7456	HP:0003010	Prolonged bleeding time
OMIM:301000	WIPF1	7456	HP:0002963	Abnormal delayed hypersensitivity skin test
OMIM:301000	WIPF1	7456	HP:0000979	Purpura
OMIM:301000	WIPF1	7456	HP:0002014	Diarrhea
OMIM:301000	WIPF1	7456	HP:0000388	Otitis media
OMIM:301000	WIPF1	7456	HP:0002090	Pneumonia
OMIM:301000	WIPF1	7456	HP:0002037	Inflammation of the large intestine
OMIM:301000	WIPF1	7456	HP:0002788	Recurrent upper respiratory tract infections
OMIM:301000	WIPF1	7456	HP:0001419	X-linked recessive inheritance
OMIM:301000	WIPF1	7456	HP:0000964	Eczema
OMIM:301000	WIPF1	7456	HP:0000246	Sinusitis
OMIM:301000	WIPF1	7456	HP:0000421	Epistaxis
OMIM:301000	WIPF1	7456	HP:0001878	Hemolytic anemia
OMIM:301000	WIPF1	7456	HP:0002783	Recurrent lower respiratory tract infections
OMIM:301000	WIPF1	7456	HP:0001873	Thrombocytopenia
OMIM:301000	WIPF1	7456	HP:0000225	Gingival bleeding
OMIM:301000	WAS	7454	HP:0000967	Petechiae
OMIM:301000	WAS	7454	HP:0000112	Nephropathy
OMIM:301000	WAS	7454	HP:0001287	Meningitis
OMIM:301000	WAS	7454	HP:0003010	Prolonged bleeding time
OMIM:301000	WAS	7454	HP:0002963	Abnormal delayed hypersensitivity skin test
OMIM:301000	WAS	7454	HP:0000979	Purpura
OMIM:301000	WAS	7454	HP:0002014	Diarrhea
OMIM:301000	WAS	7454	HP:0000388	Otitis media
OMIM:301000	WAS	7454	HP:0002090	Pneumonia
OMIM:301000	WAS	7454	HP:0002037	Inflammation of the large intestine
OMIM:301000	WAS	7454	HP:0002788	Recurrent upper respiratory tract infections
OMIM:301000	WAS	7454	HP:0001419	X-linked recessive inheritance
OMIM:301000	WAS	7454	HP:0000964	Eczema
OMIM:301000	WAS	7454	HP:0000246	Sinusitis
OMIM:301000	WAS	7454	HP:0000421	Epistaxis
OMIM:301000	WAS	7454	HP:0001878	Hemolytic anemia
OMIM:301000	WAS	7454	HP:0002783	Recurrent lower respiratory tract infections
OMIM:301000	WAS	7454	HP:0001873	Thrombocytopenia
OMIM:301000	WAS	7454	HP:0000225	Gingival bleeding
OMIM:612539	SLC33A1	9197	HP:0001324	Muscle weakness
OMIM:612539	SLC33A1	9197	HP:0001761	Pes cavus
OMIM:612539	SLC33A1	9197	HP:0001258	Spastic paraplegia
OMIM:612539	SLC33A1	9197	HP:0003487	Babinski sign
OMIM:612539	SLC33A1	9197	HP:0000006	Autosomal dominant inheritance
OMIM:612539	SLC33A1	9197	HP:0002064	Spastic gait
OMIM:612539	SLC33A1	9197	HP:0003202	Skeletal muscle atrophy
OMIM:612690	SPTA1	6708	HP:0001878	Hemolytic anemia
OMIM:612690	SPTA1	6708	HP:0000007	Autosomal recessive inheritance
OMIM:612690	EPB42	2038	HP:0001878	Hemolytic anemia
OMIM:612690	EPB42	2038	HP:0000007	Autosomal recessive inheritance
OMIM:612690	SPTB	6710	HP:0001878	Hemolytic anemia
OMIM:612690	SPTB	6710	HP:0000007	Autosomal recessive inheritance
OMIM:612690	SLC4A1	6521	HP:0001878	Hemolytic anemia
OMIM:612690	SLC4A1	6521	HP:0000007	Autosomal recessive inheritance
OMIM:612690	ANK1	286	HP:0001878	Hemolytic anemia
OMIM:612690	ANK1	286	HP:0000007	Autosomal recessive inheritance
OMIM:231050	ADAMTSL2	9719	HP:0001263	Global developmental delay
OMIM:231050	ADAMTSL2	9719	HP:0100490	Camptodactyly of finger
OMIM:231050	ADAMTSL2	9719	HP:0001650	Aortic valve stenosis
OMIM:231050	ADAMTSL2	9719	HP:0003026	Short long bone
OMIM:231050	ADAMTSL2	9719	HP:0000154	Wide mouth
OMIM:231050	ADAMTSL2	9719	HP:0000311	Round face
OMIM:231050	ADAMTSL2	9719	HP:0000938	Osteopenia
OMIM:231050	ADAMTSL2	9719	HP:0001387	Joint stiffness
OMIM:231050	ADAMTSL2	9719	HP:0000007	Autosomal recessive inheritance
OMIM:231050	ADAMTSL2	9719	HP:0002777	Tracheal stenosis
OMIM:231050	ADAMTSL2	9719	HP:0000582	Upslanted palpebral fissure
OMIM:231050	ADAMTSL2	9719	HP:0000391	Thickened helices
OMIM:231050	ADAMTSL2	9719	HP:0000343	Long philtrum
OMIM:231050	ADAMTSL2	9719	HP:0001792	Small nail
OMIM:231050	ADAMTSL2	9719	HP:0002240	Hepatomegaly
OMIM:231050	ADAMTSL2	9719	HP:0100679	Lack of skin elasticity
OMIM:231050	ADAMTSL2	9719	HP:0004322	Short stature
OMIM:231050	ADAMTSL2	9719	HP:0001773	Short foot
OMIM:231050	ADAMTSL2	9719	HP:0001250	Seizures
OMIM:231050	ADAMTSL2	9719	HP:0004279	Short palm
OMIM:231050	ADAMTSL2	9719	HP:0003196	Short nose
OMIM:231050	ADAMTSL2	9719	HP:0001072	Thickened skin
OMIM:231050	ADAMTSL2	9719	HP:0000463	Anteverted nares
OMIM:231050	ADAMTSL2	9719	HP:0001620	High pitched voice
OMIM:231050	ADAMTSL2	9719	HP:0002673	Coxa valga
OMIM:231050	ADAMTSL2	9719	HP:0001718	Mitral stenosis
OMIM:231050	ADAMTSL2	9719	HP:0001635	Congestive heart failure
OMIM:231050	ADAMTSL2	9719	HP:0000319	Smooth philtrum
OMIM:231050	ADAMTSL2	9719	HP:0000767	Pectus excavatum
OMIM:231050	FBN1	2200	HP:0001263	Global developmental delay
OMIM:231050	FBN1	2200	HP:0100490	Camptodactyly of finger
OMIM:231050	FBN1	2200	HP:0001650	Aortic valve stenosis
OMIM:231050	FBN1	2200	HP:0003026	Short long bone
OMIM:231050	FBN1	2200	HP:0000154	Wide mouth
OMIM:231050	FBN1	2200	HP:0000311	Round face
OMIM:231050	FBN1	2200	HP:0000938	Osteopenia
OMIM:231050	FBN1	2200	HP:0001387	Joint stiffness
OMIM:231050	FBN1	2200	HP:0000007	Autosomal recessive inheritance
OMIM:231050	FBN1	2200	HP:0002777	Tracheal stenosis
OMIM:231050	FBN1	2200	HP:0000582	Upslanted palpebral fissure
OMIM:231050	FBN1	2200	HP:0000391	Thickened helices
OMIM:231050	FBN1	2200	HP:0000343	Long philtrum
OMIM:231050	FBN1	2200	HP:0001792	Small nail
OMIM:231050	FBN1	2200	HP:0002240	Hepatomegaly
OMIM:231050	FBN1	2200	HP:0100679	Lack of skin elasticity
OMIM:231050	FBN1	2200	HP:0004322	Short stature
OMIM:231050	FBN1	2200	HP:0001773	Short foot
OMIM:231050	FBN1	2200	HP:0001250	Seizures
OMIM:231050	FBN1	2200	HP:0004279	Short palm
OMIM:231050	FBN1	2200	HP:0003196	Short nose
OMIM:231050	FBN1	2200	HP:0001072	Thickened skin
OMIM:231050	FBN1	2200	HP:0000463	Anteverted nares
OMIM:231050	FBN1	2200	HP:0001620	High pitched voice
OMIM:231050	FBN1	2200	HP:0002673	Coxa valga
OMIM:231050	FBN1	2200	HP:0001718	Mitral stenosis
OMIM:231050	FBN1	2200	HP:0001635	Congestive heart failure
OMIM:231050	FBN1	2200	HP:0000319	Smooth philtrum
OMIM:231050	FBN1	2200	HP:0000767	Pectus excavatum
OMIM:227300	MCFD2	90411	HP:0001892	Abnormal bleeding
OMIM:227300	MCFD2	90411	HP:0000007	Autosomal recessive inheritance
OMIM:227300	LMAN1	3998	HP:0001892	Abnormal bleeding
OMIM:227300	LMAN1	3998	HP:0000007	Autosomal recessive inheritance
OMIM:615220	PPIB	5479	HP:0002650	Scoliosis
OMIM:615220	PPIB	5479	HP:0000592	Blue sclerae
OMIM:615220	PPIB	5479	HP:0000926	Platyspondyly
OMIM:615220	PPIB	5479	HP:0012110	Hypoplasia of the pons
OMIM:615220	PPIB	5479	HP:0004322	Short stature
OMIM:615220	PPIB	5479	HP:0001263	Global developmental delay
OMIM:615220	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:615220	SERPINH1	871	HP:0002650	Scoliosis
OMIM:615220	SERPINH1	871	HP:0000592	Blue sclerae
OMIM:615220	SERPINH1	871	HP:0000926	Platyspondyly
OMIM:615220	SERPINH1	871	HP:0012110	Hypoplasia of the pons
OMIM:615220	SERPINH1	871	HP:0004322	Short stature
OMIM:615220	SERPINH1	871	HP:0001263	Global developmental delay
OMIM:615220	SERPINH1	871	HP:0000007	Autosomal recessive inheritance
OMIM:615220	FKBP10	60681	HP:0002650	Scoliosis
OMIM:615220	FKBP10	60681	HP:0000592	Blue sclerae
OMIM:615220	FKBP10	60681	HP:0000926	Platyspondyly
OMIM:615220	FKBP10	60681	HP:0012110	Hypoplasia of the pons
OMIM:615220	FKBP10	60681	HP:0004322	Short stature
OMIM:615220	FKBP10	60681	HP:0001263	Global developmental delay
OMIM:615220	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:615220	BMP1	649	HP:0002650	Scoliosis
OMIM:615220	BMP1	649	HP:0000592	Blue sclerae
OMIM:615220	BMP1	649	HP:0000926	Platyspondyly
OMIM:615220	BMP1	649	HP:0012110	Hypoplasia of the pons
OMIM:615220	BMP1	649	HP:0004322	Short stature
OMIM:615220	BMP1	649	HP:0001263	Global developmental delay
OMIM:615220	BMP1	649	HP:0000007	Autosomal recessive inheritance
OMIM:615220	WNT1	7471	HP:0002650	Scoliosis
OMIM:615220	WNT1	7471	HP:0000592	Blue sclerae
OMIM:615220	WNT1	7471	HP:0000926	Platyspondyly
OMIM:615220	WNT1	7471	HP:0012110	Hypoplasia of the pons
OMIM:615220	WNT1	7471	HP:0004322	Short stature
OMIM:615220	WNT1	7471	HP:0001263	Global developmental delay
OMIM:615220	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:615220	TMEM38B	55151	HP:0002650	Scoliosis
OMIM:615220	TMEM38B	55151	HP:0000592	Blue sclerae
OMIM:615220	TMEM38B	55151	HP:0000926	Platyspondyly
OMIM:615220	TMEM38B	55151	HP:0012110	Hypoplasia of the pons
OMIM:615220	TMEM38B	55151	HP:0004322	Short stature
OMIM:615220	TMEM38B	55151	HP:0001263	Global developmental delay
OMIM:615220	TMEM38B	55151	HP:0000007	Autosomal recessive inheritance
OMIM:615220	P3H1	64175	HP:0002650	Scoliosis
OMIM:615220	P3H1	64175	HP:0000592	Blue sclerae
OMIM:615220	P3H1	64175	HP:0000926	Platyspondyly
OMIM:615220	P3H1	64175	HP:0012110	Hypoplasia of the pons
OMIM:615220	P3H1	64175	HP:0004322	Short stature
OMIM:615220	P3H1	64175	HP:0001263	Global developmental delay
OMIM:615220	P3H1	64175	HP:0000007	Autosomal recessive inheritance
OMIM:615220	CREB3L1	90993	HP:0002650	Scoliosis
OMIM:615220	CREB3L1	90993	HP:0000592	Blue sclerae
OMIM:615220	CREB3L1	90993	HP:0000926	Platyspondyly
OMIM:615220	CREB3L1	90993	HP:0012110	Hypoplasia of the pons
OMIM:615220	CREB3L1	90993	HP:0004322	Short stature
OMIM:615220	CREB3L1	90993	HP:0001263	Global developmental delay
OMIM:615220	CREB3L1	90993	HP:0000007	Autosomal recessive inheritance
OMIM:615220	SPARC	6678	HP:0002650	Scoliosis
OMIM:615220	SPARC	6678	HP:0000592	Blue sclerae
OMIM:615220	SPARC	6678	HP:0000926	Platyspondyly
OMIM:615220	SPARC	6678	HP:0012110	Hypoplasia of the pons
OMIM:615220	SPARC	6678	HP:0004322	Short stature
OMIM:615220	SPARC	6678	HP:0001263	Global developmental delay
OMIM:615220	SPARC	6678	HP:0000007	Autosomal recessive inheritance
OMIM:615220	SERPINF1	5176	HP:0002650	Scoliosis
OMIM:615220	SERPINF1	5176	HP:0000592	Blue sclerae
OMIM:615220	SERPINF1	5176	HP:0000926	Platyspondyly
OMIM:615220	SERPINF1	5176	HP:0012110	Hypoplasia of the pons
OMIM:615220	SERPINF1	5176	HP:0004322	Short stature
OMIM:615220	SERPINF1	5176	HP:0001263	Global developmental delay
OMIM:615220	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:615220	CRTAP	10491	HP:0002650	Scoliosis
OMIM:615220	CRTAP	10491	HP:0000592	Blue sclerae
OMIM:615220	CRTAP	10491	HP:0000926	Platyspondyly
OMIM:615220	CRTAP	10491	HP:0012110	Hypoplasia of the pons
OMIM:615220	CRTAP	10491	HP:0004322	Short stature
OMIM:615220	CRTAP	10491	HP:0001263	Global developmental delay
OMIM:615220	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:615220	COL1A1	1277	HP:0002650	Scoliosis
OMIM:615220	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:615220	COL1A1	1277	HP:0000926	Platyspondyly
OMIM:615220	COL1A1	1277	HP:0012110	Hypoplasia of the pons
OMIM:615220	COL1A1	1277	HP:0004322	Short stature
OMIM:615220	COL1A1	1277	HP:0001263	Global developmental delay
OMIM:615220	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:615220	SP7	121340	HP:0002650	Scoliosis
OMIM:615220	SP7	121340	HP:0000592	Blue sclerae
OMIM:615220	SP7	121340	HP:0000926	Platyspondyly
OMIM:615220	SP7	121340	HP:0012110	Hypoplasia of the pons
OMIM:615220	SP7	121340	HP:0004322	Short stature
OMIM:615220	SP7	121340	HP:0001263	Global developmental delay
OMIM:615220	SP7	121340	HP:0000007	Autosomal recessive inheritance
OMIM:615220	COL1A2	1278	HP:0002650	Scoliosis
OMIM:615220	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:615220	COL1A2	1278	HP:0000926	Platyspondyly
OMIM:615220	COL1A2	1278	HP:0012110	Hypoplasia of the pons
OMIM:615220	COL1A2	1278	HP:0004322	Short stature
OMIM:615220	COL1A2	1278	HP:0001263	Global developmental delay
OMIM:615220	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:245348	DLAT	1737	HP:0000508	Ptosis
OMIM:245348	DLAT	1737	HP:0003128	Lactic acidosis
OMIM:245348	DLAT	1737	HP:0001251	Ataxia
OMIM:245348	DLAT	1737	HP:0001347	Hyperreflexia
OMIM:245348	DLAT	1737	HP:0002465	Poor speech
OMIM:245348	DLAT	1737	HP:0001266	Choreoathetosis
OMIM:245348	DLAT	1737	HP:0002307	Drooling
OMIM:245348	DLAT	1737	HP:0000007	Autosomal recessive inheritance
OMIM:245348	DLAT	1737	HP:0001263	Global developmental delay
OMIM:245348	DLAT	1737	HP:0001256	Intellectual disability, mild
OMIM:245348	DLAT	1737	HP:0000252	Microcephaly
OMIM:245348	DLAT	1737	HP:0001319	Neonatal hypotonia
OMIM:245348	DLAT	1737	HP:0003593	Infantile onset
OMIM:245348	DLAT	1737	HP:0002194	Delayed gross motor development
OMIM:245348	DLAT	1737	HP:0000639	Nystagmus
OMIM:245348	DLAT	1737	HP:0000657	Oculomotor apraxia
OMIM:614741	MPC1	51660	HP:0001250	Seizures
OMIM:614741	MPC1	51660	HP:0002098	Respiratory distress
OMIM:614741	MPC1	51660	HP:0001252	Muscular hypotonia
OMIM:614741	MPC1	51660	HP:0001992	Organic aciduria
OMIM:614741	MPC1	51660	HP:0003577	Congenital onset
OMIM:614741	MPC1	51660	HP:0001263	Global developmental delay
OMIM:614741	MPC1	51660	HP:0000253	Progressive microcephaly
OMIM:614741	MPC1	51660	HP:0000007	Autosomal recessive inheritance
OMIM:614741	MPC1	51660	HP:0000219	Thin upper lip vermilion
OMIM:614741	MPC1	51660	HP:0000286	Epicanthus
OMIM:614741	MPC1	51660	HP:0003828	Variable expressivity
OMIM:614741	MPC1	51660	HP:0001298	Encephalopathy
OMIM:614741	MPC1	51660	HP:0001583	Rotary nystagmus
OMIM:614741	MPC1	51660	HP:0001943	Hypoglycemia
OMIM:614741	MPC1	51660	HP:0003542	Increased serum pyruvate
OMIM:614741	MPC1	51660	HP:0000343	Long philtrum
OMIM:614741	MPC1	51660	HP:0003128	Lactic acidosis
OMIM:614741	MPC1	51660	HP:0002151	Increased serum lactate
OMIM:614741	MPC1	51660	HP:0002240	Hepatomegaly
OMIM:614741	MPC1	51660	HP:0009830	Peripheral neuropathy
OMIM:254090	COL12A1	1303	HP:0001388	Joint laxity
OMIM:254090	COL12A1	1303	HP:0001508	Failure to thrive
OMIM:254090	COL12A1	1303	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254090	COL12A1	1303	HP:0008872	Feeding difficulties in infancy
OMIM:254090	COL12A1	1303	HP:0000311	Round face
OMIM:254090	COL12A1	1303	HP:0002783	Recurrent lower respiratory tract infections
OMIM:254090	COL12A1	1303	HP:0002650	Scoliosis
OMIM:254090	COL12A1	1303	HP:0000411	Protruding ear
OMIM:254090	COL12A1	1303	HP:0003593	Infantile onset
OMIM:254090	COL12A1	1303	HP:0001319	Neonatal hypotonia
OMIM:254090	COL12A1	1303	HP:0003828	Variable expressivity
OMIM:254090	COL12A1	1303	HP:0000218	High palate
OMIM:254090	COL12A1	1303	HP:0002827	Hip dislocation
OMIM:254090	COL12A1	1303	HP:0002808	Kyphosis
OMIM:254090	COL12A1	1303	HP:0003701	Proximal muscle weakness
OMIM:254090	COL12A1	1303	HP:0000975	Hyperhidrosis
OMIM:254090	COL12A1	1303	HP:0001762	Talipes equinovarus
OMIM:254090	COL12A1	1303	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254090	COL12A1	1303	HP:0001371	Flexion contracture
OMIM:254090	COL12A1	1303	HP:0007502	Follicular hyperkeratosis
OMIM:254090	COL12A1	1303	HP:0000007	Autosomal recessive inheritance
OMIM:254090	COL12A1	1303	HP:0001270	Motor delay
OMIM:254090	COL12A1	1303	HP:0003741	Congenital muscular dystrophy
OMIM:254090	COL12A1	1303	HP:0003676	Progressive
OMIM:254090	COL12A1	1303	HP:0010628	Facial palsy
OMIM:254090	COL12A1	1303	HP:0000006	Autosomal dominant inheritance
OMIM:254090	COL12A1	1303	HP:0003306	Spinal rigidity
OMIM:254090	COL12A1	1303	HP:0000473	Torticollis
OMIM:254090	COL6A1	1291	HP:0001388	Joint laxity
OMIM:254090	COL6A1	1291	HP:0001508	Failure to thrive
OMIM:254090	COL6A1	1291	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254090	COL6A1	1291	HP:0008872	Feeding difficulties in infancy
OMIM:254090	COL6A1	1291	HP:0000311	Round face
OMIM:254090	COL6A1	1291	HP:0002783	Recurrent lower respiratory tract infections
OMIM:254090	COL6A1	1291	HP:0002650	Scoliosis
OMIM:254090	COL6A1	1291	HP:0000411	Protruding ear
OMIM:254090	COL6A1	1291	HP:0003593	Infantile onset
OMIM:254090	COL6A1	1291	HP:0001319	Neonatal hypotonia
OMIM:254090	COL6A1	1291	HP:0003828	Variable expressivity
OMIM:254090	COL6A1	1291	HP:0000218	High palate
OMIM:254090	COL6A1	1291	HP:0002827	Hip dislocation
OMIM:254090	COL6A1	1291	HP:0002808	Kyphosis
OMIM:254090	COL6A1	1291	HP:0003701	Proximal muscle weakness
OMIM:254090	COL6A1	1291	HP:0000975	Hyperhidrosis
OMIM:254090	COL6A1	1291	HP:0001762	Talipes equinovarus
OMIM:254090	COL6A1	1291	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254090	COL6A1	1291	HP:0001371	Flexion contracture
OMIM:254090	COL6A1	1291	HP:0007502	Follicular hyperkeratosis
OMIM:254090	COL6A1	1291	HP:0000007	Autosomal recessive inheritance
OMIM:254090	COL6A1	1291	HP:0001270	Motor delay
OMIM:254090	COL6A1	1291	HP:0003741	Congenital muscular dystrophy
OMIM:254090	COL6A1	1291	HP:0003676	Progressive
OMIM:254090	COL6A1	1291	HP:0010628	Facial palsy
OMIM:254090	COL6A1	1291	HP:0000006	Autosomal dominant inheritance
OMIM:254090	COL6A1	1291	HP:0003306	Spinal rigidity
OMIM:254090	COL6A1	1291	HP:0000473	Torticollis
OMIM:254090	COL6A2	1292	HP:0001388	Joint laxity
OMIM:254090	COL6A2	1292	HP:0001508	Failure to thrive
OMIM:254090	COL6A2	1292	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254090	COL6A2	1292	HP:0008872	Feeding difficulties in infancy
OMIM:254090	COL6A2	1292	HP:0000311	Round face
OMIM:254090	COL6A2	1292	HP:0002783	Recurrent lower respiratory tract infections
OMIM:254090	COL6A2	1292	HP:0002650	Scoliosis
OMIM:254090	COL6A2	1292	HP:0000411	Protruding ear
OMIM:254090	COL6A2	1292	HP:0003593	Infantile onset
OMIM:254090	COL6A2	1292	HP:0001319	Neonatal hypotonia
OMIM:254090	COL6A2	1292	HP:0003828	Variable expressivity
OMIM:254090	COL6A2	1292	HP:0000218	High palate
OMIM:254090	COL6A2	1292	HP:0002827	Hip dislocation
OMIM:254090	COL6A2	1292	HP:0002808	Kyphosis
OMIM:254090	COL6A2	1292	HP:0003701	Proximal muscle weakness
OMIM:254090	COL6A2	1292	HP:0000975	Hyperhidrosis
OMIM:254090	COL6A2	1292	HP:0001762	Talipes equinovarus
OMIM:254090	COL6A2	1292	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254090	COL6A2	1292	HP:0001371	Flexion contracture
OMIM:254090	COL6A2	1292	HP:0007502	Follicular hyperkeratosis
OMIM:254090	COL6A2	1292	HP:0000007	Autosomal recessive inheritance
OMIM:254090	COL6A2	1292	HP:0001270	Motor delay
OMIM:254090	COL6A2	1292	HP:0003741	Congenital muscular dystrophy
OMIM:254090	COL6A2	1292	HP:0003676	Progressive
OMIM:254090	COL6A2	1292	HP:0010628	Facial palsy
OMIM:254090	COL6A2	1292	HP:0000006	Autosomal dominant inheritance
OMIM:254090	COL6A2	1292	HP:0003306	Spinal rigidity
OMIM:254090	COL6A2	1292	HP:0000473	Torticollis
OMIM:254090	COL6A3	1293	HP:0001388	Joint laxity
OMIM:254090	COL6A3	1293	HP:0001508	Failure to thrive
OMIM:254090	COL6A3	1293	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:254090	COL6A3	1293	HP:0008872	Feeding difficulties in infancy
OMIM:254090	COL6A3	1293	HP:0000311	Round face
OMIM:254090	COL6A3	1293	HP:0002783	Recurrent lower respiratory tract infections
OMIM:254090	COL6A3	1293	HP:0002650	Scoliosis
OMIM:254090	COL6A3	1293	HP:0000411	Protruding ear
OMIM:254090	COL6A3	1293	HP:0003593	Infantile onset
OMIM:254090	COL6A3	1293	HP:0001319	Neonatal hypotonia
OMIM:254090	COL6A3	1293	HP:0003828	Variable expressivity
OMIM:254090	COL6A3	1293	HP:0000218	High palate
OMIM:254090	COL6A3	1293	HP:0002827	Hip dislocation
OMIM:254090	COL6A3	1293	HP:0002808	Kyphosis
OMIM:254090	COL6A3	1293	HP:0003701	Proximal muscle weakness
OMIM:254090	COL6A3	1293	HP:0000975	Hyperhidrosis
OMIM:254090	COL6A3	1293	HP:0001762	Talipes equinovarus
OMIM:254090	COL6A3	1293	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:254090	COL6A3	1293	HP:0001371	Flexion contracture
OMIM:254090	COL6A3	1293	HP:0007502	Follicular hyperkeratosis
OMIM:254090	COL6A3	1293	HP:0000007	Autosomal recessive inheritance
OMIM:254090	COL6A3	1293	HP:0001270	Motor delay
OMIM:254090	COL6A3	1293	HP:0003741	Congenital muscular dystrophy
OMIM:254090	COL6A3	1293	HP:0003676	Progressive
OMIM:254090	COL6A3	1293	HP:0010628	Facial palsy
OMIM:254090	COL6A3	1293	HP:0000006	Autosomal dominant inheritance
OMIM:254090	COL6A3	1293	HP:0003306	Spinal rigidity
OMIM:254090	COL6A3	1293	HP:0000473	Torticollis
OMIM:302960	EBP	10682	HP:0008897	Postnatal growth retardation
OMIM:302960	EBP	10682	HP:0000407	Sensorineural hearing impairment
OMIM:302960	EBP	10682	HP:0001508	Failure to thrive
OMIM:302960	EBP	10682	HP:0003577	Congenital onset
OMIM:302960	EBP	10682	HP:0000377	Abnormality of the pinna
OMIM:302960	EBP	10682	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:302960	EBP	10682	HP:0000501	Glaucoma
OMIM:302960	EBP	10682	HP:0001305	Dandy-Walker malformation
OMIM:302960	EBP	10682	HP:0010719	Abnormality of hair texture
OMIM:302960	EBP	10682	HP:0100555	Asymmetric growth
OMIM:302960	EBP	10682	HP:0003465	Elevated 8(9)-cholestenol
OMIM:302960	EBP	10682	HP:0000272	Malar flattening
OMIM:302960	EBP	10682	HP:0000470	Short neck
OMIM:302960	EBP	10682	HP:0000482	Microcornea
OMIM:302960	EBP	10682	HP:0002999	Patellar dislocation
OMIM:302960	EBP	10682	HP:0002808	Kyphosis
OMIM:302960	EBP	10682	HP:0012368	Flat face
OMIM:302960	EBP	10682	HP:0011120	Concave nasal ridge
OMIM:302960	EBP	10682	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:302960	EBP	10682	HP:0001883	Talipes
OMIM:302960	EBP	10682	HP:0008064	Ichthyosis
OMIM:302960	EBP	10682	HP:0000508	Ptosis
OMIM:302960	EBP	10682	HP:0001596	Alopecia
OMIM:302960	EBP	10682	HP:0000518	Cataract
OMIM:302960	EBP	10682	HP:0000653	Sparse eyelashes
OMIM:302960	EBP	10682	HP:0002777	Tracheal stenosis
OMIM:302960	EBP	10682	HP:0000969	Edema
OMIM:302960	EBP	10682	HP:0000639	Nystagmus
OMIM:302960	EBP	10682	HP:0000535	Sparse eyebrow
OMIM:302960	EBP	10682	HP:0000126	Hydronephrosis
OMIM:302960	EBP	10682	HP:0000648	Optic atrophy
OMIM:302960	EBP	10682	HP:0010655	Epiphyseal stippling
OMIM:302960	EBP	10682	HP:0011362	Abnormal hair quantity
OMIM:302960	EBP	10682	HP:0003828	Variable expressivity
OMIM:302960	EBP	10682	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:302960	EBP	10682	HP:0001423	X-linked dominant inheritance
OMIM:302960	EBP	10682	HP:0003272	Abnormality of the hip bone
OMIM:302960	EBP	10682	HP:0004322	Short stature
OMIM:302960	EBP	10682	HP:0002937	Hemivertebrae
OMIM:302960	EBP	10682	HP:0001776	Bilateral talipes equinovarus
OMIM:302960	EBP	10682	HP:0000286	Epicanthus
OMIM:302960	EBP	10682	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:302960	EBP	10682	HP:0100259	Postaxial polydactyly
OMIM:302960	EBP	10682	HP:0002007	Frontal bossing
OMIM:302960	EBP	10682	HP:0002787	Tracheal calcification
OMIM:302960	EBP	10682	HP:0001367	Abnormal joint morphology
OMIM:302960	EBP	10682	HP:0001019	Erythroderma
OMIM:302960	EBP	10682	HP:0000494	Downslanted palpebral fissures
OMIM:302960	EBP	10682	HP:0004241	Stippled calcification in carpal bones
OMIM:302960	EBP	10682	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:302960	EBP	10682	HP:0000365	Hearing impairment
OMIM:302960	EBP	10682	HP:0002342	Intellectual disability, moderate
OMIM:302960	EBP	10682	HP:0008131	Tarsal stippling
OMIM:302960	EBP	10682	HP:0003462	Elevated 8-dehydrocholesterol
OMIM:302960	EBP	10682	HP:0004209	Clinodactyly of the 5th finger
OMIM:302960	EBP	10682	HP:0001231	Abnormality of the fingernails
OMIM:302960	EBP	10682	HP:0009826	Limb undergrowth
OMIM:302960	EBP	10682	HP:0000164	Abnormality of the teeth
OMIM:302960	EBP	10682	HP:0008420	Punctate vertebral calcifications
OMIM:302960	EBP	10682	HP:0003312	Abnormal form of the vertebral bodies
OMIM:302960	EBP	10682	HP:0000568	Microphthalmia
OMIM:302960	EBP	10682	HP:0001561	Polyhydramnios
OMIM:302960	EBP	10682	HP:0100556	Hemiatrophy
OMIM:302960	EBP	10682	HP:0000765	Abnormality of the thorax
OMIM:302960	EBP	10682	HP:0001829	Foot polydactyly
OMIM:302960	EBP	10682	HP:0002650	Scoliosis
OMIM:614857	ABCD4	5826	HP:0001263	Global developmental delay
OMIM:614857	ABCD4	5826	HP:0000007	Autosomal recessive inheritance
OMIM:614857	ABCD4	5826	HP:0001875	Neutropenia
OMIM:614857	ABCD4	5826	HP:0012120	Methylmalonic aciduria
OMIM:614857	ABCD4	5826	HP:0011968	Feeding difficulties
OMIM:614857	ABCD4	5826	HP:0002912	Methylmalonic acidemia
OMIM:614857	ABCD4	5826	HP:0002533	Abnormal posturing
OMIM:614857	ABCD4	5826	HP:0001680	Coarctation of aorta
OMIM:614857	ABCD4	5826	HP:0001254	Lethargy
OMIM:614857	ABCD4	5826	HP:0002020	Gastroesophageal reflux
OMIM:614857	ABCD4	5826	HP:0000023	Inguinal hernia
OMIM:614857	ABCD4	5826	HP:0002789	Tachypnea
OMIM:614857	ABCD4	5826	HP:0003577	Congenital onset
OMIM:614857	ABCD4	5826	HP:0001631	Atria septal defect
OMIM:614857	ABCD4	5826	HP:0001903	Anemia
OMIM:614857	ABCD4	5826	HP:0000316	Hypertelorism
OMIM:614857	ABCD4	5826	HP:0001252	Muscular hypotonia
OMIM:614857	ABCD4	5826	HP:0000028	Cryptorchidism
OMIM:614857	ABCD4	5826	HP:0000347	Micrognathia
OMIM:614857	ABCD4	5826	HP:0002059	Cerebral atrophy
OMIM:614857	ABCD4	5826	HP:0001510	Growth delay
OMIM:614857	ABCD4	5826	HP:0001873	Thrombocytopenia
OMIM:614857	ABCD4	5826	HP:0006610	Wide intermamillary distance
OMIM:614265	ACSF3	197322	HP:0001944	Dehydration
OMIM:614265	ACSF3	197322	HP:0001263	Global developmental delay
OMIM:614265	ACSF3	197322	HP:0002014	Diarrhea
OMIM:614265	ACSF3	197322	HP:0012120	Methylmalonic aciduria
OMIM:614265	ACSF3	197322	HP:0000007	Autosomal recessive inheritance
OMIM:614265	ACSF3	197322	HP:0001993	Ketoacidosis
OMIM:614265	ACSF3	197322	HP:0002013	Vomiting
OMIM:614265	ACSF3	197322	HP:0001508	Failure to thrive
OMIM:606744	ATR	545	HP:0000691	Microdontia
OMIM:606744	ATR	545	HP:0000086	Ectopic kidney
OMIM:606744	ATR	545	HP:0000341	Narrow forehead
OMIM:606744	ATR	545	HP:0000007	Autosomal recessive inheritance
OMIM:606744	ATR	545	HP:0011342	Mild global developmental delay
OMIM:606744	ATR	545	HP:0030148	Heart murmur
OMIM:606744	ATR	545	HP:0000047	Hypospadias
OMIM:606744	ATR	545	HP:0007429	Few cafe-au-lait spots
OMIM:606744	ATR	545	HP:0000171	Microglossia
OMIM:606744	ATR	545	HP:0000448	Prominent nose
OMIM:606744	ATR	545	HP:0004209	Clinodactyly of the 5th finger
OMIM:606744	ATR	545	HP:0000347	Micrognathia
OMIM:606744	ATR	545	HP:0001321	Cerebellar hypoplasia
OMIM:606744	ATR	545	HP:0000252	Microcephaly
OMIM:606744	ATR	545	HP:0001518	Small for gestational age
OMIM:606744	ATR	545	HP:0001510	Growth delay
OMIM:606744	ATR	545	HP:0001620	High pitched voice
OMIM:606744	ATR	545	HP:0000568	Microphthalmia
OMIM:606744	CEP152	22995	HP:0000691	Microdontia
OMIM:606744	CEP152	22995	HP:0000086	Ectopic kidney
OMIM:606744	CEP152	22995	HP:0000341	Narrow forehead
OMIM:606744	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:606744	CEP152	22995	HP:0011342	Mild global developmental delay
OMIM:606744	CEP152	22995	HP:0030148	Heart murmur
OMIM:606744	CEP152	22995	HP:0000047	Hypospadias
OMIM:606744	CEP152	22995	HP:0007429	Few cafe-au-lait spots
OMIM:606744	CEP152	22995	HP:0000171	Microglossia
OMIM:606744	CEP152	22995	HP:0000448	Prominent nose
OMIM:606744	CEP152	22995	HP:0004209	Clinodactyly of the 5th finger
OMIM:606744	CEP152	22995	HP:0000347	Micrognathia
OMIM:606744	CEP152	22995	HP:0001321	Cerebellar hypoplasia
OMIM:606744	CEP152	22995	HP:0000252	Microcephaly
OMIM:606744	CEP152	22995	HP:0001518	Small for gestational age
OMIM:606744	CEP152	22995	HP:0001510	Growth delay
OMIM:606744	CEP152	22995	HP:0001620	High pitched voice
OMIM:606744	CEP152	22995	HP:0000568	Microphthalmia
OMIM:606744	CENPE	1062	HP:0000691	Microdontia
OMIM:606744	CENPE	1062	HP:0000086	Ectopic kidney
OMIM:606744	CENPE	1062	HP:0000341	Narrow forehead
OMIM:606744	CENPE	1062	HP:0000007	Autosomal recessive inheritance
OMIM:606744	CENPE	1062	HP:0011342	Mild global developmental delay
OMIM:606744	CENPE	1062	HP:0030148	Heart murmur
OMIM:606744	CENPE	1062	HP:0000047	Hypospadias
OMIM:606744	CENPE	1062	HP:0007429	Few cafe-au-lait spots
OMIM:606744	CENPE	1062	HP:0000171	Microglossia
OMIM:606744	CENPE	1062	HP:0000448	Prominent nose
OMIM:606744	CENPE	1062	HP:0004209	Clinodactyly of the 5th finger
OMIM:606744	CENPE	1062	HP:0000347	Micrognathia
OMIM:606744	CENPE	1062	HP:0001321	Cerebellar hypoplasia
OMIM:606744	CENPE	1062	HP:0000252	Microcephaly
OMIM:606744	CENPE	1062	HP:0001518	Small for gestational age
OMIM:606744	CENPE	1062	HP:0001510	Growth delay
OMIM:606744	CENPE	1062	HP:0001620	High pitched voice
OMIM:606744	CENPE	1062	HP:0000568	Microphthalmia
OMIM:606744	CENPJ	55835	HP:0000691	Microdontia
OMIM:606744	CENPJ	55835	HP:0000086	Ectopic kidney
OMIM:606744	CENPJ	55835	HP:0000341	Narrow forehead
OMIM:606744	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:606744	CENPJ	55835	HP:0011342	Mild global developmental delay
OMIM:606744	CENPJ	55835	HP:0030148	Heart murmur
OMIM:606744	CENPJ	55835	HP:0000047	Hypospadias
OMIM:606744	CENPJ	55835	HP:0007429	Few cafe-au-lait spots
OMIM:606744	CENPJ	55835	HP:0000171	Microglossia
OMIM:606744	CENPJ	55835	HP:0000448	Prominent nose
OMIM:606744	CENPJ	55835	HP:0004209	Clinodactyly of the 5th finger
OMIM:606744	CENPJ	55835	HP:0000347	Micrognathia
OMIM:606744	CENPJ	55835	HP:0001321	Cerebellar hypoplasia
OMIM:606744	CENPJ	55835	HP:0000252	Microcephaly
OMIM:606744	CENPJ	55835	HP:0001518	Small for gestational age
OMIM:606744	CENPJ	55835	HP:0001510	Growth delay
OMIM:606744	CENPJ	55835	HP:0001620	High pitched voice
OMIM:606744	CENPJ	55835	HP:0000568	Microphthalmia
OMIM:606744	RBBP8	5932	HP:0000691	Microdontia
OMIM:606744	RBBP8	5932	HP:0000086	Ectopic kidney
OMIM:606744	RBBP8	5932	HP:0000341	Narrow forehead
OMIM:606744	RBBP8	5932	HP:0000007	Autosomal recessive inheritance
OMIM:606744	RBBP8	5932	HP:0011342	Mild global developmental delay
OMIM:606744	RBBP8	5932	HP:0030148	Heart murmur
OMIM:606744	RBBP8	5932	HP:0000047	Hypospadias
OMIM:606744	RBBP8	5932	HP:0007429	Few cafe-au-lait spots
OMIM:606744	RBBP8	5932	HP:0000171	Microglossia
OMIM:606744	RBBP8	5932	HP:0000448	Prominent nose
OMIM:606744	RBBP8	5932	HP:0004209	Clinodactyly of the 5th finger
OMIM:606744	RBBP8	5932	HP:0000347	Micrognathia
OMIM:606744	RBBP8	5932	HP:0001321	Cerebellar hypoplasia
OMIM:606744	RBBP8	5932	HP:0000252	Microcephaly
OMIM:606744	RBBP8	5932	HP:0001518	Small for gestational age
OMIM:606744	RBBP8	5932	HP:0001510	Growth delay
OMIM:606744	RBBP8	5932	HP:0001620	High pitched voice
OMIM:606744	RBBP8	5932	HP:0000568	Microphthalmia
OMIM:606744	PCNT	5116	HP:0000691	Microdontia
OMIM:606744	PCNT	5116	HP:0000086	Ectopic kidney
OMIM:606744	PCNT	5116	HP:0000341	Narrow forehead
OMIM:606744	PCNT	5116	HP:0000007	Autosomal recessive inheritance
OMIM:606744	PCNT	5116	HP:0011342	Mild global developmental delay
OMIM:606744	PCNT	5116	HP:0030148	Heart murmur
OMIM:606744	PCNT	5116	HP:0000047	Hypospadias
OMIM:606744	PCNT	5116	HP:0007429	Few cafe-au-lait spots
OMIM:606744	PCNT	5116	HP:0000171	Microglossia
OMIM:606744	PCNT	5116	HP:0000448	Prominent nose
OMIM:606744	PCNT	5116	HP:0004209	Clinodactyly of the 5th finger
OMIM:606744	PCNT	5116	HP:0000347	Micrognathia
OMIM:606744	PCNT	5116	HP:0001321	Cerebellar hypoplasia
OMIM:606744	PCNT	5116	HP:0000252	Microcephaly
OMIM:606744	PCNT	5116	HP:0001518	Small for gestational age
OMIM:606744	PCNT	5116	HP:0001510	Growth delay
OMIM:606744	PCNT	5116	HP:0001620	High pitched voice
OMIM:606744	PCNT	5116	HP:0000568	Microphthalmia
OMIM:606744	PLK4	10733	HP:0000691	Microdontia
OMIM:606744	PLK4	10733	HP:0000086	Ectopic kidney
OMIM:606744	PLK4	10733	HP:0000341	Narrow forehead
OMIM:606744	PLK4	10733	HP:0000007	Autosomal recessive inheritance
OMIM:606744	PLK4	10733	HP:0011342	Mild global developmental delay
OMIM:606744	PLK4	10733	HP:0030148	Heart murmur
OMIM:606744	PLK4	10733	HP:0000047	Hypospadias
OMIM:606744	PLK4	10733	HP:0007429	Few cafe-au-lait spots
OMIM:606744	PLK4	10733	HP:0000171	Microglossia
OMIM:606744	PLK4	10733	HP:0000448	Prominent nose
OMIM:606744	PLK4	10733	HP:0004209	Clinodactyly of the 5th finger
OMIM:606744	PLK4	10733	HP:0000347	Micrognathia
OMIM:606744	PLK4	10733	HP:0001321	Cerebellar hypoplasia
OMIM:606744	PLK4	10733	HP:0000252	Microcephaly
OMIM:606744	PLK4	10733	HP:0001518	Small for gestational age
OMIM:606744	PLK4	10733	HP:0001510	Growth delay
OMIM:606744	PLK4	10733	HP:0001620	High pitched voice
OMIM:606744	PLK4	10733	HP:0000568	Microphthalmia
OMIM:606744	ATRIP	84126	HP:0000691	Microdontia
OMIM:606744	ATRIP	84126	HP:0000086	Ectopic kidney
OMIM:606744	ATRIP	84126	HP:0000341	Narrow forehead
OMIM:606744	ATRIP	84126	HP:0000007	Autosomal recessive inheritance
OMIM:606744	ATRIP	84126	HP:0011342	Mild global developmental delay
OMIM:606744	ATRIP	84126	HP:0030148	Heart murmur
OMIM:606744	ATRIP	84126	HP:0000047	Hypospadias
OMIM:606744	ATRIP	84126	HP:0007429	Few cafe-au-lait spots
OMIM:606744	ATRIP	84126	HP:0000171	Microglossia
OMIM:606744	ATRIP	84126	HP:0000448	Prominent nose
OMIM:606744	ATRIP	84126	HP:0004209	Clinodactyly of the 5th finger
OMIM:606744	ATRIP	84126	HP:0000347	Micrognathia
OMIM:606744	ATRIP	84126	HP:0001321	Cerebellar hypoplasia
OMIM:606744	ATRIP	84126	HP:0000252	Microcephaly
OMIM:606744	ATRIP	84126	HP:0001518	Small for gestational age
OMIM:606744	ATRIP	84126	HP:0001510	Growth delay
OMIM:606744	ATRIP	84126	HP:0001620	High pitched voice
OMIM:606744	ATRIP	84126	HP:0000568	Microphthalmia
OMIM:263750	DHODH	1723	HP:0007477	Abnormal dermatoglyphics
OMIM:263750	DHODH	1723	HP:0000347	Micrognathia
OMIM:263750	DHODH	1723	HP:0000368	Low-set, posteriorly rotated ears
OMIM:263750	DHODH	1723	HP:0000369	Low-set ears
OMIM:263750	DHODH	1723	HP:0001760	Abnormality of the foot
OMIM:263750	DHODH	1723	HP:0001374	Congenital hip dislocation
OMIM:263750	DHODH	1723	HP:0009778	Short thumb
OMIM:263750	DHODH	1723	HP:0000175	Cleft palate
OMIM:263750	DHODH	1723	HP:0006101	Finger syndactyly
OMIM:263750	DHODH	1723	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:263750	DHODH	1723	HP:0001159	Syndactyly
OMIM:263750	DHODH	1723	HP:0002558	Supernumerary nipple
OMIM:263750	DHODH	1723	HP:0002974	Radioulnar synostosis
OMIM:263750	DHODH	1723	HP:0000054	Micropenis
OMIM:263750	DHODH	1723	HP:0002984	Hypoplasia of the radius
OMIM:263750	DHODH	1723	HP:0000077	Abnormality of the kidney
OMIM:263750	DHODH	1723	HP:0000378	Cupped ear
OMIM:263750	DHODH	1723	HP:0000494	Downslanted palpebral fissures
OMIM:263750	DHODH	1723	HP:0000204	Cleft upper lip
OMIM:263750	DHODH	1723	HP:0002021	Pyloric stenosis
OMIM:263750	DHODH	1723	HP:0000767	Pectus excavatum
OMIM:263750	DHODH	1723	HP:0100335	Non-midline cleft lip
OMIM:263750	DHODH	1723	HP:0100490	Camptodactyly of finger
OMIM:263750	DHODH	1723	HP:0003022	Hypoplasia of the ulna
OMIM:263750	DHODH	1723	HP:0008897	Postnatal growth retardation
OMIM:263750	DHODH	1723	HP:0000453	Choanal atresia
OMIM:263750	DHODH	1723	HP:0000272	Malar flattening
OMIM:263750	DHODH	1723	HP:0002997	Abnormality of the ulna
OMIM:263750	DHODH	1723	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:263750	DHODH	1723	HP:0000405	Conductive hearing impairment
OMIM:263750	DHODH	1723	HP:0000007	Autosomal recessive inheritance
OMIM:263750	DHODH	1723	HP:0000486	Strabismus
OMIM:263750	DHODH	1723	HP:0000625	Cleft eyelid
OMIM:263750	DHODH	1723	HP:0000028	Cryptorchidism
OMIM:616437	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	TREM2	54209	HP:0001265	Hyporeflexia
OMIM:616437	TREM2	54209	HP:0001283	Bulbar palsy
OMIM:616437	TREM2	54209	HP:0000741	Apathy
OMIM:616437	TREM2	54209	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	TREM2	54209	HP:0002463	Language impairment
OMIM:616437	TREM2	54209	HP:0002015	Dysphagia
OMIM:616437	TREM2	54209	HP:0001260	Dysarthria
OMIM:616437	TREM2	54209	HP:0001347	Hyperreflexia
OMIM:616437	TREM2	54209	HP:0002120	Cerebral cortical atrophy
OMIM:616437	TREM2	54209	HP:0003202	Skeletal muscle atrophy
OMIM:616437	TREM2	54209	HP:0002380	Fasciculations
OMIM:616437	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	VAPB	9217	HP:0001265	Hyporeflexia
OMIM:616437	VAPB	9217	HP:0001283	Bulbar palsy
OMIM:616437	VAPB	9217	HP:0000741	Apathy
OMIM:616437	VAPB	9217	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	VAPB	9217	HP:0002463	Language impairment
OMIM:616437	VAPB	9217	HP:0002015	Dysphagia
OMIM:616437	VAPB	9217	HP:0001260	Dysarthria
OMIM:616437	VAPB	9217	HP:0001347	Hyperreflexia
OMIM:616437	VAPB	9217	HP:0002120	Cerebral cortical atrophy
OMIM:616437	VAPB	9217	HP:0003202	Skeletal muscle atrophy
OMIM:616437	VAPB	9217	HP:0002380	Fasciculations
OMIM:616437	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	PON1	5444	HP:0001265	Hyporeflexia
OMIM:616437	PON1	5444	HP:0001283	Bulbar palsy
OMIM:616437	PON1	5444	HP:0000741	Apathy
OMIM:616437	PON1	5444	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	PON1	5444	HP:0002463	Language impairment
OMIM:616437	PON1	5444	HP:0002015	Dysphagia
OMIM:616437	PON1	5444	HP:0001260	Dysarthria
OMIM:616437	PON1	5444	HP:0001347	Hyperreflexia
OMIM:616437	PON1	5444	HP:0002120	Cerebral cortical atrophy
OMIM:616437	PON1	5444	HP:0003202	Skeletal muscle atrophy
OMIM:616437	PON1	5444	HP:0002380	Fasciculations
OMIM:616437	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	PON2	5445	HP:0001265	Hyporeflexia
OMIM:616437	PON2	5445	HP:0001283	Bulbar palsy
OMIM:616437	PON2	5445	HP:0000741	Apathy
OMIM:616437	PON2	5445	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	PON2	5445	HP:0002463	Language impairment
OMIM:616437	PON2	5445	HP:0002015	Dysphagia
OMIM:616437	PON2	5445	HP:0001260	Dysarthria
OMIM:616437	PON2	5445	HP:0001347	Hyperreflexia
OMIM:616437	PON2	5445	HP:0002120	Cerebral cortical atrophy
OMIM:616437	PON2	5445	HP:0003202	Skeletal muscle atrophy
OMIM:616437	PON2	5445	HP:0002380	Fasciculations
OMIM:616437	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	PON3	5446	HP:0001265	Hyporeflexia
OMIM:616437	PON3	5446	HP:0001283	Bulbar palsy
OMIM:616437	PON3	5446	HP:0000741	Apathy
OMIM:616437	PON3	5446	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	PON3	5446	HP:0002463	Language impairment
OMIM:616437	PON3	5446	HP:0002015	Dysphagia
OMIM:616437	PON3	5446	HP:0001260	Dysarthria
OMIM:616437	PON3	5446	HP:0001347	Hyperreflexia
OMIM:616437	PON3	5446	HP:0002120	Cerebral cortical atrophy
OMIM:616437	PON3	5446	HP:0003202	Skeletal muscle atrophy
OMIM:616437	PON3	5446	HP:0002380	Fasciculations
OMIM:616437	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	NEFH	4744	HP:0001265	Hyporeflexia
OMIM:616437	NEFH	4744	HP:0001283	Bulbar palsy
OMIM:616437	NEFH	4744	HP:0000741	Apathy
OMIM:616437	NEFH	4744	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	NEFH	4744	HP:0002463	Language impairment
OMIM:616437	NEFH	4744	HP:0002015	Dysphagia
OMIM:616437	NEFH	4744	HP:0001260	Dysarthria
OMIM:616437	NEFH	4744	HP:0001347	Hyperreflexia
OMIM:616437	NEFH	4744	HP:0002120	Cerebral cortical atrophy
OMIM:616437	NEFH	4744	HP:0003202	Skeletal muscle atrophy
OMIM:616437	NEFH	4744	HP:0002380	Fasciculations
OMIM:616437	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	DAO	1610	HP:0001265	Hyporeflexia
OMIM:616437	DAO	1610	HP:0001283	Bulbar palsy
OMIM:616437	DAO	1610	HP:0000741	Apathy
OMIM:616437	DAO	1610	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	DAO	1610	HP:0002463	Language impairment
OMIM:616437	DAO	1610	HP:0002015	Dysphagia
OMIM:616437	DAO	1610	HP:0001260	Dysarthria
OMIM:616437	DAO	1610	HP:0001347	Hyperreflexia
OMIM:616437	DAO	1610	HP:0002120	Cerebral cortical atrophy
OMIM:616437	DAO	1610	HP:0003202	Skeletal muscle atrophy
OMIM:616437	DAO	1610	HP:0002380	Fasciculations
OMIM:616437	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	TARDBP	23435	HP:0001265	Hyporeflexia
OMIM:616437	TARDBP	23435	HP:0001283	Bulbar palsy
OMIM:616437	TARDBP	23435	HP:0000741	Apathy
OMIM:616437	TARDBP	23435	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	TARDBP	23435	HP:0002463	Language impairment
OMIM:616437	TARDBP	23435	HP:0002015	Dysphagia
OMIM:616437	TARDBP	23435	HP:0001260	Dysarthria
OMIM:616437	TARDBP	23435	HP:0001347	Hyperreflexia
OMIM:616437	TARDBP	23435	HP:0002120	Cerebral cortical atrophy
OMIM:616437	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:616437	TARDBP	23435	HP:0002380	Fasciculations
OMIM:616437	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	PPARGC1A	10891	HP:0001265	Hyporeflexia
OMIM:616437	PPARGC1A	10891	HP:0001283	Bulbar palsy
OMIM:616437	PPARGC1A	10891	HP:0000741	Apathy
OMIM:616437	PPARGC1A	10891	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	PPARGC1A	10891	HP:0002463	Language impairment
OMIM:616437	PPARGC1A	10891	HP:0002015	Dysphagia
OMIM:616437	PPARGC1A	10891	HP:0001260	Dysarthria
OMIM:616437	PPARGC1A	10891	HP:0001347	Hyperreflexia
OMIM:616437	PPARGC1A	10891	HP:0002120	Cerebral cortical atrophy
OMIM:616437	PPARGC1A	10891	HP:0003202	Skeletal muscle atrophy
OMIM:616437	PPARGC1A	10891	HP:0002380	Fasciculations
OMIM:616437	GRN	2896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	GRN	2896	HP:0001265	Hyporeflexia
OMIM:616437	GRN	2896	HP:0001283	Bulbar palsy
OMIM:616437	GRN	2896	HP:0000741	Apathy
OMIM:616437	GRN	2896	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	GRN	2896	HP:0002463	Language impairment
OMIM:616437	GRN	2896	HP:0002015	Dysphagia
OMIM:616437	GRN	2896	HP:0001260	Dysarthria
OMIM:616437	GRN	2896	HP:0001347	Hyperreflexia
OMIM:616437	GRN	2896	HP:0002120	Cerebral cortical atrophy
OMIM:616437	GRN	2896	HP:0003202	Skeletal muscle atrophy
OMIM:616437	GRN	2896	HP:0002380	Fasciculations
OMIM:616437	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	CHCHD10	400916	HP:0001265	Hyporeflexia
OMIM:616437	CHCHD10	400916	HP:0001283	Bulbar palsy
OMIM:616437	CHCHD10	400916	HP:0000741	Apathy
OMIM:616437	CHCHD10	400916	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	CHCHD10	400916	HP:0002463	Language impairment
OMIM:616437	CHCHD10	400916	HP:0002015	Dysphagia
OMIM:616437	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:616437	CHCHD10	400916	HP:0001347	Hyperreflexia
OMIM:616437	CHCHD10	400916	HP:0002120	Cerebral cortical atrophy
OMIM:616437	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
OMIM:616437	CHCHD10	400916	HP:0002380	Fasciculations
OMIM:616437	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	ERBB4	2066	HP:0001265	Hyporeflexia
OMIM:616437	ERBB4	2066	HP:0001283	Bulbar palsy
OMIM:616437	ERBB4	2066	HP:0000741	Apathy
OMIM:616437	ERBB4	2066	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	ERBB4	2066	HP:0002463	Language impairment
OMIM:616437	ERBB4	2066	HP:0002015	Dysphagia
OMIM:616437	ERBB4	2066	HP:0001260	Dysarthria
OMIM:616437	ERBB4	2066	HP:0001347	Hyperreflexia
OMIM:616437	ERBB4	2066	HP:0002120	Cerebral cortical atrophy
OMIM:616437	ERBB4	2066	HP:0003202	Skeletal muscle atrophy
OMIM:616437	ERBB4	2066	HP:0002380	Fasciculations
OMIM:616437	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	OPTN	10133	HP:0001265	Hyporeflexia
OMIM:616437	OPTN	10133	HP:0001283	Bulbar palsy
OMIM:616437	OPTN	10133	HP:0000741	Apathy
OMIM:616437	OPTN	10133	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	OPTN	10133	HP:0002463	Language impairment
OMIM:616437	OPTN	10133	HP:0002015	Dysphagia
OMIM:616437	OPTN	10133	HP:0001260	Dysarthria
OMIM:616437	OPTN	10133	HP:0001347	Hyperreflexia
OMIM:616437	OPTN	10133	HP:0002120	Cerebral cortical atrophy
OMIM:616437	OPTN	10133	HP:0003202	Skeletal muscle atrophy
OMIM:616437	OPTN	10133	HP:0002380	Fasciculations
OMIM:616437	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	FUS	2521	HP:0001265	Hyporeflexia
OMIM:616437	FUS	2521	HP:0001283	Bulbar palsy
OMIM:616437	FUS	2521	HP:0000741	Apathy
OMIM:616437	FUS	2521	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	FUS	2521	HP:0002463	Language impairment
OMIM:616437	FUS	2521	HP:0002015	Dysphagia
OMIM:616437	FUS	2521	HP:0001260	Dysarthria
OMIM:616437	FUS	2521	HP:0001347	Hyperreflexia
OMIM:616437	FUS	2521	HP:0002120	Cerebral cortical atrophy
OMIM:616437	FUS	2521	HP:0003202	Skeletal muscle atrophy
OMIM:616437	FUS	2521	HP:0002380	Fasciculations
OMIM:616437	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	UBQLN2	29978	HP:0001265	Hyporeflexia
OMIM:616437	UBQLN2	29978	HP:0001283	Bulbar palsy
OMIM:616437	UBQLN2	29978	HP:0000741	Apathy
OMIM:616437	UBQLN2	29978	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	UBQLN2	29978	HP:0002463	Language impairment
OMIM:616437	UBQLN2	29978	HP:0002015	Dysphagia
OMIM:616437	UBQLN2	29978	HP:0001260	Dysarthria
OMIM:616437	UBQLN2	29978	HP:0001347	Hyperreflexia
OMIM:616437	UBQLN2	29978	HP:0002120	Cerebral cortical atrophy
OMIM:616437	UBQLN2	29978	HP:0003202	Skeletal muscle atrophy
OMIM:616437	UBQLN2	29978	HP:0002380	Fasciculations
OMIM:616437	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	ANG	283	HP:0001265	Hyporeflexia
OMIM:616437	ANG	283	HP:0001283	Bulbar palsy
OMIM:616437	ANG	283	HP:0000741	Apathy
OMIM:616437	ANG	283	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	ANG	283	HP:0002463	Language impairment
OMIM:616437	ANG	283	HP:0002015	Dysphagia
OMIM:616437	ANG	283	HP:0001260	Dysarthria
OMIM:616437	ANG	283	HP:0001347	Hyperreflexia
OMIM:616437	ANG	283	HP:0002120	Cerebral cortical atrophy
OMIM:616437	ANG	283	HP:0003202	Skeletal muscle atrophy
OMIM:616437	ANG	283	HP:0002380	Fasciculations
OMIM:616437	PSEN1	5663	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	PSEN1	5663	HP:0001265	Hyporeflexia
OMIM:616437	PSEN1	5663	HP:0001283	Bulbar palsy
OMIM:616437	PSEN1	5663	HP:0000741	Apathy
OMIM:616437	PSEN1	5663	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	PSEN1	5663	HP:0002463	Language impairment
OMIM:616437	PSEN1	5663	HP:0002015	Dysphagia
OMIM:616437	PSEN1	5663	HP:0001260	Dysarthria
OMIM:616437	PSEN1	5663	HP:0001347	Hyperreflexia
OMIM:616437	PSEN1	5663	HP:0002120	Cerebral cortical atrophy
OMIM:616437	PSEN1	5663	HP:0003202	Skeletal muscle atrophy
OMIM:616437	PSEN1	5663	HP:0002380	Fasciculations
OMIM:616437	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	C9ORF72	203228	HP:0001265	Hyporeflexia
OMIM:616437	C9ORF72	203228	HP:0001283	Bulbar palsy
OMIM:616437	C9ORF72	203228	HP:0000741	Apathy
OMIM:616437	C9ORF72	203228	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	C9ORF72	203228	HP:0002463	Language impairment
OMIM:616437	C9ORF72	203228	HP:0002015	Dysphagia
OMIM:616437	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:616437	C9ORF72	203228	HP:0001347	Hyperreflexia
OMIM:616437	C9ORF72	203228	HP:0002120	Cerebral cortical atrophy
OMIM:616437	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:616437	C9ORF72	203228	HP:0002380	Fasciculations
OMIM:616437	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	PFN1	5216	HP:0001265	Hyporeflexia
OMIM:616437	PFN1	5216	HP:0001283	Bulbar palsy
OMIM:616437	PFN1	5216	HP:0000741	Apathy
OMIM:616437	PFN1	5216	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	PFN1	5216	HP:0002463	Language impairment
OMIM:616437	PFN1	5216	HP:0002015	Dysphagia
OMIM:616437	PFN1	5216	HP:0001260	Dysarthria
OMIM:616437	PFN1	5216	HP:0001347	Hyperreflexia
OMIM:616437	PFN1	5216	HP:0002120	Cerebral cortical atrophy
OMIM:616437	PFN1	5216	HP:0003202	Skeletal muscle atrophy
OMIM:616437	PFN1	5216	HP:0002380	Fasciculations
OMIM:616437	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	ATXN2	6311	HP:0001265	Hyporeflexia
OMIM:616437	ATXN2	6311	HP:0001283	Bulbar palsy
OMIM:616437	ATXN2	6311	HP:0000741	Apathy
OMIM:616437	ATXN2	6311	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	ATXN2	6311	HP:0002463	Language impairment
OMIM:616437	ATXN2	6311	HP:0002015	Dysphagia
OMIM:616437	ATXN2	6311	HP:0001260	Dysarthria
OMIM:616437	ATXN2	6311	HP:0001347	Hyperreflexia
OMIM:616437	ATXN2	6311	HP:0002120	Cerebral cortical atrophy
OMIM:616437	ATXN2	6311	HP:0003202	Skeletal muscle atrophy
OMIM:616437	ATXN2	6311	HP:0002380	Fasciculations
OMIM:616437	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	DCTN1	1639	HP:0001265	Hyporeflexia
OMIM:616437	DCTN1	1639	HP:0001283	Bulbar palsy
OMIM:616437	DCTN1	1639	HP:0000741	Apathy
OMIM:616437	DCTN1	1639	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	DCTN1	1639	HP:0002463	Language impairment
OMIM:616437	DCTN1	1639	HP:0002015	Dysphagia
OMIM:616437	DCTN1	1639	HP:0001260	Dysarthria
OMIM:616437	DCTN1	1639	HP:0001347	Hyperreflexia
OMIM:616437	DCTN1	1639	HP:0002120	Cerebral cortical atrophy
OMIM:616437	DCTN1	1639	HP:0003202	Skeletal muscle atrophy
OMIM:616437	DCTN1	1639	HP:0002380	Fasciculations
OMIM:616437	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	FIG4	9896	HP:0001265	Hyporeflexia
OMIM:616437	FIG4	9896	HP:0001283	Bulbar palsy
OMIM:616437	FIG4	9896	HP:0000741	Apathy
OMIM:616437	FIG4	9896	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	FIG4	9896	HP:0002463	Language impairment
OMIM:616437	FIG4	9896	HP:0002015	Dysphagia
OMIM:616437	FIG4	9896	HP:0001260	Dysarthria
OMIM:616437	FIG4	9896	HP:0001347	Hyperreflexia
OMIM:616437	FIG4	9896	HP:0002120	Cerebral cortical atrophy
OMIM:616437	FIG4	9896	HP:0003202	Skeletal muscle atrophy
OMIM:616437	FIG4	9896	HP:0002380	Fasciculations
OMIM:616437	MAPT	4137	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	MAPT	4137	HP:0001265	Hyporeflexia
OMIM:616437	MAPT	4137	HP:0001283	Bulbar palsy
OMIM:616437	MAPT	4137	HP:0000741	Apathy
OMIM:616437	MAPT	4137	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	MAPT	4137	HP:0002463	Language impairment
OMIM:616437	MAPT	4137	HP:0002015	Dysphagia
OMIM:616437	MAPT	4137	HP:0001260	Dysarthria
OMIM:616437	MAPT	4137	HP:0001347	Hyperreflexia
OMIM:616437	MAPT	4137	HP:0002120	Cerebral cortical atrophy
OMIM:616437	MAPT	4137	HP:0003202	Skeletal muscle atrophy
OMIM:616437	MAPT	4137	HP:0002380	Fasciculations
OMIM:616437	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	HNRNPA1	3178	HP:0001265	Hyporeflexia
OMIM:616437	HNRNPA1	3178	HP:0001283	Bulbar palsy
OMIM:616437	HNRNPA1	3178	HP:0000741	Apathy
OMIM:616437	HNRNPA1	3178	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	HNRNPA1	3178	HP:0002463	Language impairment
OMIM:616437	HNRNPA1	3178	HP:0002015	Dysphagia
OMIM:616437	HNRNPA1	3178	HP:0001260	Dysarthria
OMIM:616437	HNRNPA1	3178	HP:0001347	Hyperreflexia
OMIM:616437	HNRNPA1	3178	HP:0002120	Cerebral cortical atrophy
OMIM:616437	HNRNPA1	3178	HP:0003202	Skeletal muscle atrophy
OMIM:616437	HNRNPA1	3178	HP:0002380	Fasciculations
OMIM:616437	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	SQSTM1	8878	HP:0001265	Hyporeflexia
OMIM:616437	SQSTM1	8878	HP:0001283	Bulbar palsy
OMIM:616437	SQSTM1	8878	HP:0000741	Apathy
OMIM:616437	SQSTM1	8878	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	SQSTM1	8878	HP:0002463	Language impairment
OMIM:616437	SQSTM1	8878	HP:0002015	Dysphagia
OMIM:616437	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:616437	SQSTM1	8878	HP:0001347	Hyperreflexia
OMIM:616437	SQSTM1	8878	HP:0002120	Cerebral cortical atrophy
OMIM:616437	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:616437	SQSTM1	8878	HP:0002380	Fasciculations
OMIM:616437	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	UNC13A	23025	HP:0001265	Hyporeflexia
OMIM:616437	UNC13A	23025	HP:0001283	Bulbar palsy
OMIM:616437	UNC13A	23025	HP:0000741	Apathy
OMIM:616437	UNC13A	23025	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	UNC13A	23025	HP:0002463	Language impairment
OMIM:616437	UNC13A	23025	HP:0002015	Dysphagia
OMIM:616437	UNC13A	23025	HP:0001260	Dysarthria
OMIM:616437	UNC13A	23025	HP:0001347	Hyperreflexia
OMIM:616437	UNC13A	23025	HP:0002120	Cerebral cortical atrophy
OMIM:616437	UNC13A	23025	HP:0003202	Skeletal muscle atrophy
OMIM:616437	UNC13A	23025	HP:0002380	Fasciculations
OMIM:616437	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	TBK1	29110	HP:0001265	Hyporeflexia
OMIM:616437	TBK1	29110	HP:0001283	Bulbar palsy
OMIM:616437	TBK1	29110	HP:0000741	Apathy
OMIM:616437	TBK1	29110	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	TBK1	29110	HP:0002463	Language impairment
OMIM:616437	TBK1	29110	HP:0002015	Dysphagia
OMIM:616437	TBK1	29110	HP:0001260	Dysarthria
OMIM:616437	TBK1	29110	HP:0001347	Hyperreflexia
OMIM:616437	TBK1	29110	HP:0002120	Cerebral cortical atrophy
OMIM:616437	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:616437	TBK1	29110	HP:0002380	Fasciculations
OMIM:616437	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	MATR3	9782	HP:0001265	Hyporeflexia
OMIM:616437	MATR3	9782	HP:0001283	Bulbar palsy
OMIM:616437	MATR3	9782	HP:0000741	Apathy
OMIM:616437	MATR3	9782	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	MATR3	9782	HP:0002463	Language impairment
OMIM:616437	MATR3	9782	HP:0002015	Dysphagia
OMIM:616437	MATR3	9782	HP:0001260	Dysarthria
OMIM:616437	MATR3	9782	HP:0001347	Hyperreflexia
OMIM:616437	MATR3	9782	HP:0002120	Cerebral cortical atrophy
OMIM:616437	MATR3	9782	HP:0003202	Skeletal muscle atrophy
OMIM:616437	MATR3	9782	HP:0002380	Fasciculations
OMIM:616437	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	VCP	7415	HP:0001265	Hyporeflexia
OMIM:616437	VCP	7415	HP:0001283	Bulbar palsy
OMIM:616437	VCP	7415	HP:0000741	Apathy
OMIM:616437	VCP	7415	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	VCP	7415	HP:0002463	Language impairment
OMIM:616437	VCP	7415	HP:0002015	Dysphagia
OMIM:616437	VCP	7415	HP:0001260	Dysarthria
OMIM:616437	VCP	7415	HP:0001347	Hyperreflexia
OMIM:616437	VCP	7415	HP:0002120	Cerebral cortical atrophy
OMIM:616437	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:616437	VCP	7415	HP:0002380	Fasciculations
OMIM:616437	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	SOD1	6647	HP:0001265	Hyporeflexia
OMIM:616437	SOD1	6647	HP:0001283	Bulbar palsy
OMIM:616437	SOD1	6647	HP:0000741	Apathy
OMIM:616437	SOD1	6647	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	SOD1	6647	HP:0002463	Language impairment
OMIM:616437	SOD1	6647	HP:0002015	Dysphagia
OMIM:616437	SOD1	6647	HP:0001260	Dysarthria
OMIM:616437	SOD1	6647	HP:0001347	Hyperreflexia
OMIM:616437	SOD1	6647	HP:0002120	Cerebral cortical atrophy
OMIM:616437	SOD1	6647	HP:0003202	Skeletal muscle atrophy
OMIM:616437	SOD1	6647	HP:0002380	Fasciculations
OMIM:616437	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	CHMP2B	25978	HP:0001265	Hyporeflexia
OMIM:616437	CHMP2B	25978	HP:0001283	Bulbar palsy
OMIM:616437	CHMP2B	25978	HP:0000741	Apathy
OMIM:616437	CHMP2B	25978	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	CHMP2B	25978	HP:0002463	Language impairment
OMIM:616437	CHMP2B	25978	HP:0002015	Dysphagia
OMIM:616437	CHMP2B	25978	HP:0001260	Dysarthria
OMIM:616437	CHMP2B	25978	HP:0001347	Hyperreflexia
OMIM:616437	CHMP2B	25978	HP:0002120	Cerebral cortical atrophy
OMIM:616437	CHMP2B	25978	HP:0003202	Skeletal muscle atrophy
OMIM:616437	CHMP2B	25978	HP:0002380	Fasciculations
OMIM:616437	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:616437	PRPH	5630	HP:0001265	Hyporeflexia
OMIM:616437	PRPH	5630	HP:0001283	Bulbar palsy
OMIM:616437	PRPH	5630	HP:0000741	Apathy
OMIM:616437	PRPH	5630	HP:0002366	Abnormal lower motor neuron morphology
OMIM:616437	PRPH	5630	HP:0002463	Language impairment
OMIM:616437	PRPH	5630	HP:0002015	Dysphagia
OMIM:616437	PRPH	5630	HP:0001260	Dysarthria
OMIM:616437	PRPH	5630	HP:0001347	Hyperreflexia
OMIM:616437	PRPH	5630	HP:0002120	Cerebral cortical atrophy
OMIM:616437	PRPH	5630	HP:0003202	Skeletal muscle atrophy
OMIM:616437	PRPH	5630	HP:0002380	Fasciculations
ORPHANET:966	ABCC9	10060	HP:0000998	Hypertrichosis
ORPHANET:966	ABCC9	10060	HP:0005105	Abnormal nasal morphology
ORPHANET:966	ABCC9	10060	HP:0000280	Coarse facial features
ORPHANET:966	ABCC9	10060	HP:0000581	Blepharophimosis
ORPHANET:966	ABCC9	10060	HP:0001155	Abnormality of the hand
ORPHANET:966	ABCC9	10060	HP:0100543	Cognitive impairment
ORPHANET:966	ABCC9	10060	HP:0000232	Everted lower lip vermilion
ORPHANET:966	ABCC9	10060	HP:0001382	Joint hypermobility
ORPHANET:966	ABCC9	10060	HP:0000212	Gingival overgrowth
ORPHANET:966	ABCC9	10060	HP:0000179	Thick lower lip vermilion
OMIM:225280	CDH3	1001	HP:0000007	Autosomal recessive inheritance
OMIM:225280	CDH3	1001	HP:0000653	Sparse eyelashes
OMIM:225280	CDH3	1001	HP:0001171	Split hand
OMIM:225280	CDH3	1001	HP:0000687	Widely spaced teeth
OMIM:225280	CDH3	1001	HP:0000670	Carious teeth
OMIM:225280	CDH3	1001	HP:0001103	Abnormality of the macula
OMIM:225280	CDH3	1001	HP:0001159	Syndactyly
OMIM:225280	CDH3	1001	HP:0000535	Sparse eyebrow
OMIM:225280	CDH3	1001	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:225280	CDH3	1001	HP:0006101	Finger syndactyly
OMIM:225280	CDH3	1001	HP:0000488	Retinopathy
OMIM:225280	CDH3	1001	HP:0011362	Abnormal hair quantity
OMIM:225280	CDH3	1001	HP:0009473	Joint contracture of the hand
OMIM:225280	CDH3	1001	HP:0009804	Reduced number of teeth
OMIM:225280	CDH3	1001	HP:0012385	Camptodactyly
OMIM:225280	CDH3	1001	HP:0001592	Selective tooth agenesis
OMIM:225280	CDH3	1001	HP:0007703	Abnormality of retinal pigmentation
OMIM:225280	CDH3	1001	HP:0000691	Microdontia
OMIM:225280	CDH3	1001	HP:0002209	Sparse scalp hair
OMIM:225280	CDH3	1001	HP:0000486	Strabismus
OMIM:225280	CDH3	1001	HP:0000968	Ectodermal dysplasia
OMIM:255600	COL6A2	1292	HP:0010628	Facial palsy
OMIM:255600	COL6A2	1292	HP:0001771	Achilles tendon contracture
OMIM:255600	COL6A2	1292	HP:0003236	Elevated serum creatine phosphokinase
OMIM:255600	COL6A2	1292	HP:0003676	Progressive
OMIM:255600	COL6A2	1292	HP:0002460	Distal muscle weakness
OMIM:255600	COL6A2	1292	HP:0003306	Spinal rigidity
OMIM:255600	COL6A2	1292	HP:0009025	Increased connective tissue
OMIM:255600	COL6A2	1292	HP:0002944	Thoracolumbar scoliosis
OMIM:255600	COL6A2	1292	HP:0005997	Restricted neck movement due to contractures
OMIM:255600	COL6A2	1292	HP:0004322	Short stature
OMIM:255600	COL6A2	1292	HP:0000007	Autosomal recessive inheritance
OMIM:255600	COL6A2	1292	HP:0003202	Skeletal muscle atrophy
OMIM:255600	COL6A2	1292	HP:0002938	Lumbar hyperlordosis
OMIM:255600	COL6A2	1292	HP:0003701	Proximal muscle weakness
OMIM:255600	COL6A2	1292	HP:0003621	Juvenile onset
OMIM:606768	DYSF	8291	HP:0002460	Distal muscle weakness
OMIM:606768	DYSF	8291	HP:0003693	Distal amyotrophy
OMIM:606768	DYSF	8291	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606768	DYSF	8291	HP:0000007	Autosomal recessive inheritance
OMIM:606768	DYSF	8291	HP:0003678	Rapidly progressive
OMIM:170100	PEPD	5184	HP:0002205	Recurrent respiratory infections
OMIM:170100	PEPD	5184	HP:0000963	Thin skin
OMIM:170100	PEPD	5184	HP:0001166	Arachnodactyly
OMIM:170100	PEPD	5184	HP:0000316	Hypertelorism
OMIM:170100	PEPD	5184	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:170100	PEPD	5184	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:170100	PEPD	5184	HP:0100543	Cognitive impairment
OMIM:170100	PEPD	5184	HP:0001873	Thrombocytopenia
OMIM:170100	PEPD	5184	HP:0005280	Depressed nasal bridge
OMIM:170100	PEPD	5184	HP:0007703	Abnormality of retinal pigmentation
OMIM:170100	PEPD	5184	HP:0002240	Hepatomegaly
OMIM:170100	PEPD	5184	HP:0006579	Prolonged neonatal jaundice
OMIM:170100	PEPD	5184	HP:0000670	Carious teeth
OMIM:170100	PEPD	5184	HP:0001231	Abnormality of the fingernails
OMIM:170100	PEPD	5184	HP:0000347	Micrognathia
OMIM:170100	PEPD	5184	HP:0002211	White forelock
OMIM:170100	PEPD	5184	HP:0000444	Convex nasal ridge
OMIM:170100	PEPD	5184	HP:0000958	Dry skin
OMIM:170100	PEPD	5184	HP:0002099	Asthma
OMIM:170100	PEPD	5184	HP:0000365	Hearing impairment
OMIM:170100	PEPD	5184	HP:0002725	Systemic lupus erythematosus
OMIM:170100	PEPD	5184	HP:0004349	Reduced bone mineral density
OMIM:170100	PEPD	5184	HP:0000508	Ptosis
OMIM:170100	PEPD	5184	HP:0001744	Splenomegaly
OMIM:170100	PEPD	5184	HP:0000520	Proptosis
OMIM:170100	PEPD	5184	HP:0000457	Depressed nasal ridge
OMIM:170100	PEPD	5184	HP:0000998	Hypertrichosis
OMIM:170100	PEPD	5184	HP:0000007	Autosomal recessive inheritance
OMIM:170100	PEPD	5184	HP:0002162	Low posterior hairline
OMIM:170100	PEPD	5184	HP:0000992	Cutaneous photosensitivity
OMIM:170100	PEPD	5184	HP:0000272	Malar flattening
OMIM:170100	PEPD	5184	HP:0000967	Petechiae
OMIM:170100	PEPD	5184	HP:0200042	Skin ulcer
OMIM:170100	PEPD	5184	HP:0000989	Pruritus
OMIM:170100	PEPD	5184	HP:0001903	Anemia
OMIM:170100	PEPD	5184	HP:0000505	Visual impairment
OMIM:170100	PEPD	5184	HP:0000982	Palmoplantar keratoderma
OMIM:170100	PEPD	5184	HP:0006532	Recurrent pneumonia
OMIM:170100	PEPD	5184	HP:0001999	Abnormal facial shape
OMIM:170100	PEPD	5184	HP:0002857	Genu valgum
OMIM:170100	PEPD	5184	HP:0011220	Prominent forehead
OMIM:170100	PEPD	5184	HP:0003272	Abnormality of the hip bone
OMIM:170100	PEPD	5184	HP:0000370	Abnormality of the middle ear
OMIM:170100	PEPD	5184	HP:0001263	Global developmental delay
OMIM:170100	PEPD	5184	HP:0000954	Single transverse palmar crease
OMIM:170100	PEPD	5184	HP:0000294	Low anterior hairline
OMIM:170100	PEPD	5184	HP:0003196	Short nose
ORPHANET:618	CDKN2A	1029	HP:0002071	Abnormality of extrapyramidal motor function
ORPHANET:618	CDKN2A	1029	HP:0000488	Retinopathy
ORPHANET:618	CDKN2A	1029	HP:0000958	Dry skin
ORPHANET:618	CDKN2A	1029	HP:0002894	Neoplasm of the pancreas
ORPHANET:618	CDKN2A	1029	HP:0002861	Melanoma
ORPHANET:618	CDKN2A	1029	HP:0001480	Freckling
ORPHANET:618	CDKN2A	1029	HP:0006753	Neoplasm of the stomach
ORPHANET:618	CDKN2A	1029	HP:0100013	Neoplasm of the breast
ORPHANET:618	CDKN2A	1029	HP:0100763	Abnormality of the lymphatic system
ORPHANET:618	CDKN2B	1030	HP:0002071	Abnormality of extrapyramidal motor function
ORPHANET:618	CDKN2B	1030	HP:0000488	Retinopathy
ORPHANET:618	CDKN2B	1030	HP:0000958	Dry skin
ORPHANET:618	CDKN2B	1030	HP:0002894	Neoplasm of the pancreas
ORPHANET:618	CDKN2B	1030	HP:0002861	Melanoma
ORPHANET:618	CDKN2B	1030	HP:0001480	Freckling
ORPHANET:618	CDKN2B	1030	HP:0006753	Neoplasm of the stomach
ORPHANET:618	CDKN2B	1030	HP:0100013	Neoplasm of the breast
ORPHANET:618	CDKN2B	1030	HP:0100763	Abnormality of the lymphatic system
ORPHANET:618	TERT	7015	HP:0002071	Abnormality of extrapyramidal motor function
ORPHANET:618	TERT	7015	HP:0000488	Retinopathy
ORPHANET:618	TERT	7015	HP:0000958	Dry skin
ORPHANET:618	TERT	7015	HP:0002894	Neoplasm of the pancreas
ORPHANET:618	TERT	7015	HP:0002861	Melanoma
ORPHANET:618	TERT	7015	HP:0001480	Freckling
ORPHANET:618	TERT	7015	HP:0006753	Neoplasm of the stomach
ORPHANET:618	TERT	7015	HP:0100013	Neoplasm of the breast
ORPHANET:618	TERT	7015	HP:0100763	Abnormality of the lymphatic system
ORPHANET:618	CDKN2D	1032	HP:0002071	Abnormality of extrapyramidal motor function
ORPHANET:618	CDKN2D	1032	HP:0000488	Retinopathy
ORPHANET:618	CDKN2D	1032	HP:0000958	Dry skin
ORPHANET:618	CDKN2D	1032	HP:0002894	Neoplasm of the pancreas
ORPHANET:618	CDKN2D	1032	HP:0002861	Melanoma
ORPHANET:618	CDKN2D	1032	HP:0001480	Freckling
ORPHANET:618	CDKN2D	1032	HP:0006753	Neoplasm of the stomach
ORPHANET:618	CDKN2D	1032	HP:0100013	Neoplasm of the breast
ORPHANET:618	CDKN2D	1032	HP:0100763	Abnormality of the lymphatic system
ORPHANET:618	POT1	25913	HP:0002071	Abnormality of extrapyramidal motor function
ORPHANET:618	POT1	25913	HP:0000488	Retinopathy
ORPHANET:618	POT1	25913	HP:0000958	Dry skin
ORPHANET:618	POT1	25913	HP:0002894	Neoplasm of the pancreas
ORPHANET:618	POT1	25913	HP:0002861	Melanoma
ORPHANET:618	POT1	25913	HP:0001480	Freckling
ORPHANET:618	POT1	25913	HP:0006753	Neoplasm of the stomach
ORPHANET:618	POT1	25913	HP:0100013	Neoplasm of the breast
ORPHANET:618	POT1	25913	HP:0100763	Abnormality of the lymphatic system
ORPHANET:618	CDK4	1019	HP:0002071	Abnormality of extrapyramidal motor function
ORPHANET:618	CDK4	1019	HP:0000488	Retinopathy
ORPHANET:618	CDK4	1019	HP:0000958	Dry skin
ORPHANET:618	CDK4	1019	HP:0002894	Neoplasm of the pancreas
ORPHANET:618	CDK4	1019	HP:0002861	Melanoma
ORPHANET:618	CDK4	1019	HP:0001480	Freckling
ORPHANET:618	CDK4	1019	HP:0006753	Neoplasm of the stomach
ORPHANET:618	CDK4	1019	HP:0100013	Neoplasm of the breast
ORPHANET:618	CDK4	1019	HP:0100763	Abnormality of the lymphatic system
ORPHANET:618	MC1R	4157	HP:0002071	Abnormality of extrapyramidal motor function
ORPHANET:618	MC1R	4157	HP:0000488	Retinopathy
ORPHANET:618	MC1R	4157	HP:0000958	Dry skin
ORPHANET:618	MC1R	4157	HP:0002894	Neoplasm of the pancreas
ORPHANET:618	MC1R	4157	HP:0002861	Melanoma
ORPHANET:618	MC1R	4157	HP:0001480	Freckling
ORPHANET:618	MC1R	4157	HP:0006753	Neoplasm of the stomach
ORPHANET:618	MC1R	4157	HP:0100013	Neoplasm of the breast
ORPHANET:618	MC1R	4157	HP:0100763	Abnormality of the lymphatic system
ORPHANET:95712	PAX8	7849	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95712	PAX8	7849	HP:0000821	Hypothyroidism
ORPHANET:95712	PAX8	7849	HP:0002360	Sleep disturbance
ORPHANET:95712	PAX8	7849	HP:0001324	Muscle weakness
ORPHANET:95712	PAX8	7849	HP:0001392	Abnormality of the liver
ORPHANET:95712	PAX8	7849	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95712	PAX8	7849	HP:0100543	Cognitive impairment
ORPHANET:95712	PAX8	7849	HP:0001252	Muscular hypotonia
ORPHANET:95712	PAX8	7849	HP:0001537	Umbilical hernia
ORPHANET:95712	PAX8	7849	HP:0000280	Coarse facial features
ORPHANET:95712	PAX8	7849	HP:0004322	Short stature
ORPHANET:95712	PAX8	7849	HP:0000157	Abnormality of the tongue
ORPHANET:95712	NKX2-5	1482	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95712	NKX2-5	1482	HP:0000821	Hypothyroidism
ORPHANET:95712	NKX2-5	1482	HP:0002360	Sleep disturbance
ORPHANET:95712	NKX2-5	1482	HP:0001324	Muscle weakness
ORPHANET:95712	NKX2-5	1482	HP:0001392	Abnormality of the liver
ORPHANET:95712	NKX2-5	1482	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95712	NKX2-5	1482	HP:0100543	Cognitive impairment
ORPHANET:95712	NKX2-5	1482	HP:0001252	Muscular hypotonia
ORPHANET:95712	NKX2-5	1482	HP:0001537	Umbilical hernia
ORPHANET:95712	NKX2-5	1482	HP:0000280	Coarse facial features
ORPHANET:95712	NKX2-5	1482	HP:0004322	Short stature
ORPHANET:95712	NKX2-5	1482	HP:0000157	Abnormality of the tongue
OMIM:186000	HOXD13	3239	HP:0004692	4-5 toe syndactyly
OMIM:186000	HOXD13	3239	HP:0000006	Autosomal dominant inheritance
OMIM:186000	HOXD13	3239	HP:0004209	Clinodactyly of the 5th finger
OMIM:186000	HOXD13	3239	HP:0001841	Preaxial foot polydactyly
OMIM:186000	HOXD13	3239	HP:0006101	Finger syndactyly
OMIM:186000	HOXD13	3239	HP:0004220	Short middle phalanx of the 5th finger
OMIM:155601	CDKN2A	1029	HP:0012056	Cutaneous melanoma
OMIM:155601	CDKN2A	1029	HP:0000006	Autosomal dominant inheritance
OMIM:155601	CDKN2B	1030	HP:0012056	Cutaneous melanoma
OMIM:155601	CDKN2B	1030	HP:0000006	Autosomal dominant inheritance
OMIM:155601	TERT	7015	HP:0012056	Cutaneous melanoma
OMIM:155601	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:155601	CDKN2D	1032	HP:0012056	Cutaneous melanoma
OMIM:155601	CDKN2D	1032	HP:0000006	Autosomal dominant inheritance
OMIM:155601	POT1	25913	HP:0012056	Cutaneous melanoma
OMIM:155601	POT1	25913	HP:0000006	Autosomal dominant inheritance
OMIM:155601	CDK4	1019	HP:0012056	Cutaneous melanoma
OMIM:155601	CDK4	1019	HP:0000006	Autosomal dominant inheritance
OMIM:155601	MC1R	4157	HP:0012056	Cutaneous melanoma
OMIM:155601	MC1R	4157	HP:0000006	Autosomal dominant inheritance
OMIM:117000	RYR1	6261	HP:0001319	Neonatal hypotonia
OMIM:117000	RYR1	6261	HP:0003680	Nonprogressive
OMIM:117000	RYR1	6261	HP:0003202	Skeletal muscle atrophy
OMIM:117000	RYR1	6261	HP:0003812	Phenotypic variability
OMIM:117000	RYR1	6261	HP:0001763	Pes planus
OMIM:117000	RYR1	6261	HP:0001945	Fever
OMIM:117000	RYR1	6261	HP:0003324	Generalized muscle weakness
OMIM:117000	RYR1	6261	HP:0003677	Slow progression
OMIM:117000	RYR1	6261	HP:0002751	Kyphoscoliosis
OMIM:117000	RYR1	6261	HP:0001252	Muscular hypotonia
OMIM:117000	RYR1	6261	HP:0001371	Flexion contracture
OMIM:117000	RYR1	6261	HP:0001270	Motor delay
OMIM:117000	RYR1	6261	HP:0000006	Autosomal dominant inheritance
OMIM:117000	RYR1	6261	HP:0003198	Myopathy
OMIM:117000	RYR1	6261	HP:0003593	Infantile onset
OMIM:117000	RYR1	6261	HP:0001374	Congenital hip dislocation
OMIM:117000	RYR1	6261	HP:0000007	Autosomal recessive inheritance
OMIM:614135	COL9A1	1297	HP:0011463	Childhood onset
OMIM:614135	COL9A1	1297	HP:0000006	Autosomal dominant inheritance
OMIM:614135	COL9A1	1297	HP:0002829	Arthralgia
OMIM:614135	COL9A1	1297	HP:0002758	Osteoarthritis
OMIM:614135	COL9A1	1297	HP:0003301	Irregular vertebral endplates
OMIM:614135	COL9A1	1297	HP:0002815	Abnormality of the knees
OMIM:614135	COL9A2	1298	HP:0011463	Childhood onset
OMIM:614135	COL9A2	1298	HP:0000006	Autosomal dominant inheritance
OMIM:614135	COL9A2	1298	HP:0002829	Arthralgia
OMIM:614135	COL9A2	1298	HP:0002758	Osteoarthritis
OMIM:614135	COL9A2	1298	HP:0003301	Irregular vertebral endplates
OMIM:614135	COL9A2	1298	HP:0002815	Abnormality of the knees
OMIM:614135	COL9A3	1299	HP:0011463	Childhood onset
OMIM:614135	COL9A3	1299	HP:0000006	Autosomal dominant inheritance
OMIM:614135	COL9A3	1299	HP:0002829	Arthralgia
OMIM:614135	COL9A3	1299	HP:0002758	Osteoarthritis
OMIM:614135	COL9A3	1299	HP:0003301	Irregular vertebral endplates
OMIM:614135	COL9A3	1299	HP:0002815	Abnormality of the knees
OMIM:614840	PROK2	60675	HP:0030260	Microphallus
OMIM:614840	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:614840	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:614840	PROK2	60675	HP:0000054	Micropenis
OMIM:614840	PROK2	60675	HP:0000007	Autosomal recessive inheritance
OMIM:614840	PROK2	60675	HP:0008734	Decreased testicular size
OMIM:614840	PROKR2	128674	HP:0030260	Microphallus
OMIM:614840	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:614840	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:614840	PROKR2	128674	HP:0000054	Micropenis
OMIM:614840	PROKR2	128674	HP:0000007	Autosomal recessive inheritance
OMIM:614840	PROKR2	128674	HP:0008734	Decreased testicular size
OMIM:614840	SEMA3A	10371	HP:0030260	Microphallus
OMIM:614840	SEMA3A	10371	HP:0000028	Cryptorchidism
OMIM:614840	SEMA3A	10371	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	SEMA3A	10371	HP:0000786	Primary amenorrhea
OMIM:614840	SEMA3A	10371	HP:0000054	Micropenis
OMIM:614840	SEMA3A	10371	HP:0000007	Autosomal recessive inheritance
OMIM:614840	SEMA3A	10371	HP:0008734	Decreased testicular size
OMIM:614840	IL17RD	54756	HP:0030260	Microphallus
OMIM:614840	IL17RD	54756	HP:0000028	Cryptorchidism
OMIM:614840	IL17RD	54756	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	IL17RD	54756	HP:0000786	Primary amenorrhea
OMIM:614840	IL17RD	54756	HP:0000054	Micropenis
OMIM:614840	IL17RD	54756	HP:0000007	Autosomal recessive inheritance
OMIM:614840	IL17RD	54756	HP:0008734	Decreased testicular size
OMIM:614840	WDR11	55717	HP:0030260	Microphallus
OMIM:614840	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:614840	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:614840	WDR11	55717	HP:0000054	Micropenis
OMIM:614840	WDR11	55717	HP:0000007	Autosomal recessive inheritance
OMIM:614840	WDR11	55717	HP:0008734	Decreased testicular size
OMIM:614840	KISS1	3814	HP:0030260	Microphallus
OMIM:614840	KISS1	3814	HP:0000028	Cryptorchidism
OMIM:614840	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	KISS1	3814	HP:0000786	Primary amenorrhea
OMIM:614840	KISS1	3814	HP:0000054	Micropenis
OMIM:614840	KISS1	3814	HP:0000007	Autosomal recessive inheritance
OMIM:614840	KISS1	3814	HP:0008734	Decreased testicular size
OMIM:614840	SOX10	6663	HP:0030260	Microphallus
OMIM:614840	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:614840	SOX10	6663	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	SOX10	6663	HP:0000786	Primary amenorrhea
OMIM:614840	SOX10	6663	HP:0000054	Micropenis
OMIM:614840	SOX10	6663	HP:0000007	Autosomal recessive inheritance
OMIM:614840	SOX10	6663	HP:0008734	Decreased testicular size
OMIM:614840	FEZF1	389549	HP:0030260	Microphallus
OMIM:614840	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:614840	FEZF1	389549	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	FEZF1	389549	HP:0000786	Primary amenorrhea
OMIM:614840	FEZF1	389549	HP:0000054	Micropenis
OMIM:614840	FEZF1	389549	HP:0000007	Autosomal recessive inheritance
OMIM:614840	FEZF1	389549	HP:0008734	Decreased testicular size
OMIM:614840	GNRH1	2796	HP:0030260	Microphallus
OMIM:614840	GNRH1	2796	HP:0000028	Cryptorchidism
OMIM:614840	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	GNRH1	2796	HP:0000786	Primary amenorrhea
OMIM:614840	GNRH1	2796	HP:0000054	Micropenis
OMIM:614840	GNRH1	2796	HP:0000007	Autosomal recessive inheritance
OMIM:614840	GNRH1	2796	HP:0008734	Decreased testicular size
OMIM:614840	FGF8	2253	HP:0030260	Microphallus
OMIM:614840	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:614840	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:614840	FGF8	2253	HP:0000054	Micropenis
OMIM:614840	FGF8	2253	HP:0000007	Autosomal recessive inheritance
OMIM:614840	FGF8	2253	HP:0008734	Decreased testicular size
OMIM:614840	GNRHR	2798	HP:0030260	Microphallus
OMIM:614840	GNRHR	2798	HP:0000028	Cryptorchidism
OMIM:614840	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	GNRHR	2798	HP:0000786	Primary amenorrhea
OMIM:614840	GNRHR	2798	HP:0000054	Micropenis
OMIM:614840	GNRHR	2798	HP:0000007	Autosomal recessive inheritance
OMIM:614840	GNRHR	2798	HP:0008734	Decreased testicular size
OMIM:614840	ANOS1	3730	HP:0030260	Microphallus
OMIM:614840	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:614840	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:614840	ANOS1	3730	HP:0000054	Micropenis
OMIM:614840	ANOS1	3730	HP:0000007	Autosomal recessive inheritance
OMIM:614840	ANOS1	3730	HP:0008734	Decreased testicular size
OMIM:614840	TAC3	6866	HP:0030260	Microphallus
OMIM:614840	TAC3	6866	HP:0000028	Cryptorchidism
OMIM:614840	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	TAC3	6866	HP:0000786	Primary amenorrhea
OMIM:614840	TAC3	6866	HP:0000054	Micropenis
OMIM:614840	TAC3	6866	HP:0000007	Autosomal recessive inheritance
OMIM:614840	TAC3	6866	HP:0008734	Decreased testicular size
OMIM:614840	HS6ST1	9394	HP:0030260	Microphallus
OMIM:614840	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:614840	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:614840	HS6ST1	9394	HP:0000054	Micropenis
OMIM:614840	HS6ST1	9394	HP:0000007	Autosomal recessive inheritance
OMIM:614840	HS6ST1	9394	HP:0008734	Decreased testicular size
OMIM:614840	CHD7	55636	HP:0030260	Microphallus
OMIM:614840	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:614840	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:614840	CHD7	55636	HP:0000054	Micropenis
OMIM:614840	CHD7	55636	HP:0000007	Autosomal recessive inheritance
OMIM:614840	CHD7	55636	HP:0008734	Decreased testicular size
OMIM:614840	FGFR1	2260	HP:0030260	Microphallus
OMIM:614840	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:614840	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:614840	FGFR1	2260	HP:0000054	Micropenis
OMIM:614840	FGFR1	2260	HP:0000007	Autosomal recessive inheritance
OMIM:614840	FGFR1	2260	HP:0008734	Decreased testicular size
OMIM:614840	HESX1	8820	HP:0030260	Microphallus
OMIM:614840	HESX1	8820	HP:0000028	Cryptorchidism
OMIM:614840	HESX1	8820	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	HESX1	8820	HP:0000786	Primary amenorrhea
OMIM:614840	HESX1	8820	HP:0000054	Micropenis
OMIM:614840	HESX1	8820	HP:0000007	Autosomal recessive inheritance
OMIM:614840	HESX1	8820	HP:0008734	Decreased testicular size
OMIM:614840	TACR3	6870	HP:0030260	Microphallus
OMIM:614840	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:614840	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:614840	TACR3	6870	HP:0000054	Micropenis
OMIM:614840	TACR3	6870	HP:0000007	Autosomal recessive inheritance
OMIM:614840	TACR3	6870	HP:0008734	Decreased testicular size
OMIM:614840	FGF17	8822	HP:0030260	Microphallus
OMIM:614840	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:614840	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:614840	FGF17	8822	HP:0000054	Micropenis
OMIM:614840	FGF17	8822	HP:0000007	Autosomal recessive inheritance
OMIM:614840	FGF17	8822	HP:0008734	Decreased testicular size
OMIM:614840	FLRT3	23767	HP:0030260	Microphallus
OMIM:614840	FLRT3	23767	HP:0000028	Cryptorchidism
OMIM:614840	FLRT3	23767	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	FLRT3	23767	HP:0000786	Primary amenorrhea
OMIM:614840	FLRT3	23767	HP:0000054	Micropenis
OMIM:614840	FLRT3	23767	HP:0000007	Autosomal recessive inheritance
OMIM:614840	FLRT3	23767	HP:0008734	Decreased testicular size
OMIM:614840	DUSP6	1848	HP:0030260	Microphallus
OMIM:614840	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:614840	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:614840	DUSP6	1848	HP:0000054	Micropenis
OMIM:614840	DUSP6	1848	HP:0000007	Autosomal recessive inheritance
OMIM:614840	DUSP6	1848	HP:0008734	Decreased testicular size
OMIM:614840	SPRY4	81848	HP:0030260	Microphallus
OMIM:614840	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:614840	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:614840	SPRY4	81848	HP:0000054	Micropenis
OMIM:614840	SPRY4	81848	HP:0000007	Autosomal recessive inheritance
OMIM:614840	SPRY4	81848	HP:0008734	Decreased testicular size
OMIM:614840	KISS1R	84634	HP:0030260	Microphallus
OMIM:614840	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:614840	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:614840	KISS1R	84634	HP:0000054	Micropenis
OMIM:614840	KISS1R	84634	HP:0000007	Autosomal recessive inheritance
OMIM:614840	KISS1R	84634	HP:0008734	Decreased testicular size
OMIM:614840	NSMF	26012	HP:0030260	Microphallus
OMIM:614840	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:614840	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614840	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:614840	NSMF	26012	HP:0000054	Micropenis
OMIM:614840	NSMF	26012	HP:0000007	Autosomal recessive inheritance
OMIM:614840	NSMF	26012	HP:0008734	Decreased testicular size
OMIM:154400	SF3B4	10262	HP:0001636	Tetralogy of Fallot
OMIM:154400	SF3B4	10262	HP:0002251	Aganglionic megacolon
OMIM:154400	SF3B4	10262	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:154400	SF3B4	10262	HP:0010055	Broad hallux
OMIM:154400	SF3B4	10262	HP:0002650	Scoliosis
OMIM:154400	SF3B4	10262	HP:0000813	Bicornuate uterus
OMIM:154400	SF3B4	10262	HP:0030084	Clinodactyly
OMIM:154400	SF3B4	10262	HP:0000347	Micrognathia
OMIM:154400	SF3B4	10262	HP:0000365	Hearing impairment
OMIM:154400	SF3B4	10262	HP:0000368	Low-set, posteriorly rotated ears
OMIM:154400	SF3B4	10262	HP:0003319	Abnormality of the cervical spine
OMIM:154400	SF3B4	10262	HP:0000154	Wide mouth
OMIM:154400	SF3B4	10262	HP:0000384	Preauricular skin tag
OMIM:154400	SF3B4	10262	HP:0000175	Cleft palate
OMIM:154400	SF3B4	10262	HP:0001643	Patent ductus arteriosus
OMIM:154400	SF3B4	10262	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:154400	SF3B4	10262	HP:0000625	Cleft eyelid
OMIM:154400	SF3B4	10262	HP:0000369	Low-set ears
OMIM:154400	SF3B4	10262	HP:0005105	Abnormal nasal morphology
OMIM:154400	SF3B4	10262	HP:0008678	Renal hypoplasia/aplasia
OMIM:154400	SF3B4	10262	HP:0000358	Posteriorly rotated ears
OMIM:154400	SF3B4	10262	HP:0002974	Radioulnar synostosis
OMIM:154400	SF3B4	10262	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:154400	SF3B4	10262	HP:0000238	Hydrocephalus
OMIM:154400	SF3B4	10262	HP:0000204	Cleft upper lip
OMIM:154400	SF3B4	10262	HP:0002984	Hypoplasia of the radius
OMIM:154400	SF3B4	10262	HP:0000278	Retrognathia
OMIM:154400	SF3B4	10262	HP:0003974	Absent radius
OMIM:154400	SF3B4	10262	HP:0004322	Short stature
OMIM:154400	SF3B4	10262	HP:0009777	Absent thumb
OMIM:154400	SF3B4	10262	HP:0002827	Hip dislocation
OMIM:154400	SF3B4	10262	HP:0000006	Autosomal dominant inheritance
OMIM:154400	SF3B4	10262	HP:0011800	Hypoplasia of midface
OMIM:154400	SF3B4	10262	HP:0000494	Downslanted palpebral fissures
OMIM:154400	SF3B4	10262	HP:0001629	Ventricular septal defect
OMIM:154400	SF3B4	10262	HP:0001622	Premature birth
OMIM:154400	SF3B4	10262	HP:0000405	Conductive hearing impairment
OMIM:154400	SF3B4	10262	HP:0000413	Atresia of the external auditory canal
OMIM:154400	SF3B4	10262	HP:0001822	Hallux valgus
OMIM:154400	SF3B4	10262	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:154400	SF3B4	10262	HP:0001199	Triphalangeal thumb
OMIM:154400	SF3B4	10262	HP:0002167	Neurological speech impairment
OMIM:154400	SF3B4	10262	HP:0001770	Toe syndactyly
OMIM:154400	SF3B4	10262	HP:0000252	Microcephaly
OMIM:154400	SF3B4	10262	HP:0001376	Limitation of joint mobility
OMIM:154400	SF3B4	10262	HP:0001831	Short toe
OMIM:154400	SF3B4	10262	HP:0002093	Respiratory insufficiency
OMIM:154400	SF3B4	10262	HP:0002126	Polymicrogyria
OMIM:154400	SF3B4	10262	HP:0002652	Skeletal dysplasia
OMIM:154400	SF3B4	10262	HP:0001025	Urticaria
OMIM:154400	SF3B4	10262	HP:0001845	Overlapping toe
OMIM:154400	SF3B4	10262	HP:0000750	Delayed speech and language development
OMIM:154400	SF3B4	10262	HP:0001762	Talipes equinovarus
OMIM:154400	SF3B4	10262	HP:0000220	Velopharyngeal insufficiency
OMIM:154400	SF3B4	10262	HP:0000272	Malar flattening
OMIM:154400	SF3B4	10262	HP:0000508	Ptosis
OMIM:154400	SF3B4	10262	HP:0100335	Non-midline cleft lip
OMIM:154400	SF3B4	10262	HP:0009466	Radial deviation of finger
OMIM:154400	SF3B4	10262	HP:0000122	Unilateral renal agenesis
OMIM:154400	SF3B4	10262	HP:0000426	Prominent nasal bridge
OMIM:614856	CREB3L1	90993	HP:0001166	Arachnodactyly
OMIM:614856	CREB3L1	90993	HP:0000926	Platyspondyly
OMIM:614856	CREB3L1	90993	HP:0002645	Wormian bones
OMIM:614856	CREB3L1	90993	HP:0003202	Skeletal muscle atrophy
OMIM:614856	CREB3L1	90993	HP:0011001	Increased bone mineral density
OMIM:614856	CREB3L1	90993	HP:0004325	Decreased body weight
OMIM:614856	CREB3L1	90993	HP:0000411	Protruding ear
OMIM:614856	CREB3L1	90993	HP:0001382	Joint hypermobility
OMIM:614856	CREB3L1	90993	HP:0000325	Triangular face
OMIM:614856	CREB3L1	90993	HP:0000527	Long eyelashes
OMIM:614856	CREB3L1	90993	HP:0000343	Long philtrum
OMIM:614856	CREB3L1	90993	HP:0000592	Blue sclerae
OMIM:614856	CREB3L1	90993	HP:0001252	Muscular hypotonia
OMIM:614856	CREB3L1	90993	HP:0002751	Kyphoscoliosis
OMIM:614856	CREB3L1	90993	HP:0000337	Broad forehead
OMIM:614856	CREB3L1	90993	HP:0000233	Thin vermilion border
OMIM:614856	CREB3L1	90993	HP:0001537	Umbilical hernia
OMIM:614856	CREB3L1	90993	HP:0004322	Short stature
OMIM:614856	CREB3L1	90993	HP:0000768	Pectus carinatum
OMIM:614856	CREB3L1	90993	HP:0003083	Dislocated radial head
OMIM:614856	CREB3L1	90993	HP:0000939	Osteoporosis
OMIM:614856	CREB3L1	90993	HP:0002194	Delayed gross motor development
OMIM:614856	CREB3L1	90993	HP:0000007	Autosomal recessive inheritance
OMIM:614856	PPIB	5479	HP:0001166	Arachnodactyly
OMIM:614856	PPIB	5479	HP:0000926	Platyspondyly
OMIM:614856	PPIB	5479	HP:0002645	Wormian bones
OMIM:614856	PPIB	5479	HP:0003202	Skeletal muscle atrophy
OMIM:614856	PPIB	5479	HP:0011001	Increased bone mineral density
OMIM:614856	PPIB	5479	HP:0004325	Decreased body weight
OMIM:614856	PPIB	5479	HP:0000411	Protruding ear
OMIM:614856	PPIB	5479	HP:0001382	Joint hypermobility
OMIM:614856	PPIB	5479	HP:0000325	Triangular face
OMIM:614856	PPIB	5479	HP:0000527	Long eyelashes
OMIM:614856	PPIB	5479	HP:0000343	Long philtrum
OMIM:614856	PPIB	5479	HP:0000592	Blue sclerae
OMIM:614856	PPIB	5479	HP:0001252	Muscular hypotonia
OMIM:614856	PPIB	5479	HP:0002751	Kyphoscoliosis
OMIM:614856	PPIB	5479	HP:0000337	Broad forehead
OMIM:614856	PPIB	5479	HP:0000233	Thin vermilion border
OMIM:614856	PPIB	5479	HP:0001537	Umbilical hernia
OMIM:614856	PPIB	5479	HP:0004322	Short stature
OMIM:614856	PPIB	5479	HP:0000768	Pectus carinatum
OMIM:614856	PPIB	5479	HP:0003083	Dislocated radial head
OMIM:614856	PPIB	5479	HP:0000939	Osteoporosis
OMIM:614856	PPIB	5479	HP:0002194	Delayed gross motor development
OMIM:614856	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:614856	SERPINH1	871	HP:0001166	Arachnodactyly
OMIM:614856	SERPINH1	871	HP:0000926	Platyspondyly
OMIM:614856	SERPINH1	871	HP:0002645	Wormian bones
OMIM:614856	SERPINH1	871	HP:0003202	Skeletal muscle atrophy
OMIM:614856	SERPINH1	871	HP:0011001	Increased bone mineral density
OMIM:614856	SERPINH1	871	HP:0004325	Decreased body weight
OMIM:614856	SERPINH1	871	HP:0000411	Protruding ear
OMIM:614856	SERPINH1	871	HP:0001382	Joint hypermobility
OMIM:614856	SERPINH1	871	HP:0000325	Triangular face
OMIM:614856	SERPINH1	871	HP:0000527	Long eyelashes
OMIM:614856	SERPINH1	871	HP:0000343	Long philtrum
OMIM:614856	SERPINH1	871	HP:0000592	Blue sclerae
OMIM:614856	SERPINH1	871	HP:0001252	Muscular hypotonia
OMIM:614856	SERPINH1	871	HP:0002751	Kyphoscoliosis
OMIM:614856	SERPINH1	871	HP:0000337	Broad forehead
OMIM:614856	SERPINH1	871	HP:0000233	Thin vermilion border
OMIM:614856	SERPINH1	871	HP:0001537	Umbilical hernia
OMIM:614856	SERPINH1	871	HP:0004322	Short stature
OMIM:614856	SERPINH1	871	HP:0000768	Pectus carinatum
OMIM:614856	SERPINH1	871	HP:0003083	Dislocated radial head
OMIM:614856	SERPINH1	871	HP:0000939	Osteoporosis
OMIM:614856	SERPINH1	871	HP:0002194	Delayed gross motor development
OMIM:614856	SERPINH1	871	HP:0000007	Autosomal recessive inheritance
OMIM:614856	SERPINF1	5176	HP:0001166	Arachnodactyly
OMIM:614856	SERPINF1	5176	HP:0000926	Platyspondyly
OMIM:614856	SERPINF1	5176	HP:0002645	Wormian bones
OMIM:614856	SERPINF1	5176	HP:0003202	Skeletal muscle atrophy
OMIM:614856	SERPINF1	5176	HP:0011001	Increased bone mineral density
OMIM:614856	SERPINF1	5176	HP:0004325	Decreased body weight
OMIM:614856	SERPINF1	5176	HP:0000411	Protruding ear
OMIM:614856	SERPINF1	5176	HP:0001382	Joint hypermobility
OMIM:614856	SERPINF1	5176	HP:0000325	Triangular face
OMIM:614856	SERPINF1	5176	HP:0000527	Long eyelashes
OMIM:614856	SERPINF1	5176	HP:0000343	Long philtrum
OMIM:614856	SERPINF1	5176	HP:0000592	Blue sclerae
OMIM:614856	SERPINF1	5176	HP:0001252	Muscular hypotonia
OMIM:614856	SERPINF1	5176	HP:0002751	Kyphoscoliosis
OMIM:614856	SERPINF1	5176	HP:0000337	Broad forehead
OMIM:614856	SERPINF1	5176	HP:0000233	Thin vermilion border
OMIM:614856	SERPINF1	5176	HP:0001537	Umbilical hernia
OMIM:614856	SERPINF1	5176	HP:0004322	Short stature
OMIM:614856	SERPINF1	5176	HP:0000768	Pectus carinatum
OMIM:614856	SERPINF1	5176	HP:0003083	Dislocated radial head
OMIM:614856	SERPINF1	5176	HP:0000939	Osteoporosis
OMIM:614856	SERPINF1	5176	HP:0002194	Delayed gross motor development
OMIM:614856	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:614856	BMP1	649	HP:0001166	Arachnodactyly
OMIM:614856	BMP1	649	HP:0000926	Platyspondyly
OMIM:614856	BMP1	649	HP:0002645	Wormian bones
OMIM:614856	BMP1	649	HP:0003202	Skeletal muscle atrophy
OMIM:614856	BMP1	649	HP:0011001	Increased bone mineral density
OMIM:614856	BMP1	649	HP:0004325	Decreased body weight
OMIM:614856	BMP1	649	HP:0000411	Protruding ear
OMIM:614856	BMP1	649	HP:0001382	Joint hypermobility
OMIM:614856	BMP1	649	HP:0000325	Triangular face
OMIM:614856	BMP1	649	HP:0000527	Long eyelashes
OMIM:614856	BMP1	649	HP:0000343	Long philtrum
OMIM:614856	BMP1	649	HP:0000592	Blue sclerae
OMIM:614856	BMP1	649	HP:0001252	Muscular hypotonia
OMIM:614856	BMP1	649	HP:0002751	Kyphoscoliosis
OMIM:614856	BMP1	649	HP:0000337	Broad forehead
OMIM:614856	BMP1	649	HP:0000233	Thin vermilion border
OMIM:614856	BMP1	649	HP:0001537	Umbilical hernia
OMIM:614856	BMP1	649	HP:0004322	Short stature
OMIM:614856	BMP1	649	HP:0000768	Pectus carinatum
OMIM:614856	BMP1	649	HP:0003083	Dislocated radial head
OMIM:614856	BMP1	649	HP:0000939	Osteoporosis
OMIM:614856	BMP1	649	HP:0002194	Delayed gross motor development
OMIM:614856	BMP1	649	HP:0000007	Autosomal recessive inheritance
OMIM:614856	FKBP10	60681	HP:0001166	Arachnodactyly
OMIM:614856	FKBP10	60681	HP:0000926	Platyspondyly
OMIM:614856	FKBP10	60681	HP:0002645	Wormian bones
OMIM:614856	FKBP10	60681	HP:0003202	Skeletal muscle atrophy
OMIM:614856	FKBP10	60681	HP:0011001	Increased bone mineral density
OMIM:614856	FKBP10	60681	HP:0004325	Decreased body weight
OMIM:614856	FKBP10	60681	HP:0000411	Protruding ear
OMIM:614856	FKBP10	60681	HP:0001382	Joint hypermobility
OMIM:614856	FKBP10	60681	HP:0000325	Triangular face
OMIM:614856	FKBP10	60681	HP:0000527	Long eyelashes
OMIM:614856	FKBP10	60681	HP:0000343	Long philtrum
OMIM:614856	FKBP10	60681	HP:0000592	Blue sclerae
OMIM:614856	FKBP10	60681	HP:0001252	Muscular hypotonia
OMIM:614856	FKBP10	60681	HP:0002751	Kyphoscoliosis
OMIM:614856	FKBP10	60681	HP:0000337	Broad forehead
OMIM:614856	FKBP10	60681	HP:0000233	Thin vermilion border
OMIM:614856	FKBP10	60681	HP:0001537	Umbilical hernia
OMIM:614856	FKBP10	60681	HP:0004322	Short stature
OMIM:614856	FKBP10	60681	HP:0000768	Pectus carinatum
OMIM:614856	FKBP10	60681	HP:0003083	Dislocated radial head
OMIM:614856	FKBP10	60681	HP:0000939	Osteoporosis
OMIM:614856	FKBP10	60681	HP:0002194	Delayed gross motor development
OMIM:614856	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:614856	CRTAP	10491	HP:0001166	Arachnodactyly
OMIM:614856	CRTAP	10491	HP:0000926	Platyspondyly
OMIM:614856	CRTAP	10491	HP:0002645	Wormian bones
OMIM:614856	CRTAP	10491	HP:0003202	Skeletal muscle atrophy
OMIM:614856	CRTAP	10491	HP:0011001	Increased bone mineral density
OMIM:614856	CRTAP	10491	HP:0004325	Decreased body weight
OMIM:614856	CRTAP	10491	HP:0000411	Protruding ear
OMIM:614856	CRTAP	10491	HP:0001382	Joint hypermobility
OMIM:614856	CRTAP	10491	HP:0000325	Triangular face
OMIM:614856	CRTAP	10491	HP:0000527	Long eyelashes
OMIM:614856	CRTAP	10491	HP:0000343	Long philtrum
OMIM:614856	CRTAP	10491	HP:0000592	Blue sclerae
OMIM:614856	CRTAP	10491	HP:0001252	Muscular hypotonia
OMIM:614856	CRTAP	10491	HP:0002751	Kyphoscoliosis
OMIM:614856	CRTAP	10491	HP:0000337	Broad forehead
OMIM:614856	CRTAP	10491	HP:0000233	Thin vermilion border
OMIM:614856	CRTAP	10491	HP:0001537	Umbilical hernia
OMIM:614856	CRTAP	10491	HP:0004322	Short stature
OMIM:614856	CRTAP	10491	HP:0000768	Pectus carinatum
OMIM:614856	CRTAP	10491	HP:0003083	Dislocated radial head
OMIM:614856	CRTAP	10491	HP:0000939	Osteoporosis
OMIM:614856	CRTAP	10491	HP:0002194	Delayed gross motor development
OMIM:614856	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:614856	COL1A1	1277	HP:0001166	Arachnodactyly
OMIM:614856	COL1A1	1277	HP:0000926	Platyspondyly
OMIM:614856	COL1A1	1277	HP:0002645	Wormian bones
OMIM:614856	COL1A1	1277	HP:0003202	Skeletal muscle atrophy
OMIM:614856	COL1A1	1277	HP:0011001	Increased bone mineral density
OMIM:614856	COL1A1	1277	HP:0004325	Decreased body weight
OMIM:614856	COL1A1	1277	HP:0000411	Protruding ear
OMIM:614856	COL1A1	1277	HP:0001382	Joint hypermobility
OMIM:614856	COL1A1	1277	HP:0000325	Triangular face
OMIM:614856	COL1A1	1277	HP:0000527	Long eyelashes
OMIM:614856	COL1A1	1277	HP:0000343	Long philtrum
OMIM:614856	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:614856	COL1A1	1277	HP:0001252	Muscular hypotonia
OMIM:614856	COL1A1	1277	HP:0002751	Kyphoscoliosis
OMIM:614856	COL1A1	1277	HP:0000337	Broad forehead
OMIM:614856	COL1A1	1277	HP:0000233	Thin vermilion border
OMIM:614856	COL1A1	1277	HP:0001537	Umbilical hernia
OMIM:614856	COL1A1	1277	HP:0004322	Short stature
OMIM:614856	COL1A1	1277	HP:0000768	Pectus carinatum
OMIM:614856	COL1A1	1277	HP:0003083	Dislocated radial head
OMIM:614856	COL1A1	1277	HP:0000939	Osteoporosis
OMIM:614856	COL1A1	1277	HP:0002194	Delayed gross motor development
OMIM:614856	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:614856	COL1A2	1278	HP:0001166	Arachnodactyly
OMIM:614856	COL1A2	1278	HP:0000926	Platyspondyly
OMIM:614856	COL1A2	1278	HP:0002645	Wormian bones
OMIM:614856	COL1A2	1278	HP:0003202	Skeletal muscle atrophy
OMIM:614856	COL1A2	1278	HP:0011001	Increased bone mineral density
OMIM:614856	COL1A2	1278	HP:0004325	Decreased body weight
OMIM:614856	COL1A2	1278	HP:0000411	Protruding ear
OMIM:614856	COL1A2	1278	HP:0001382	Joint hypermobility
OMIM:614856	COL1A2	1278	HP:0000325	Triangular face
OMIM:614856	COL1A2	1278	HP:0000527	Long eyelashes
OMIM:614856	COL1A2	1278	HP:0000343	Long philtrum
OMIM:614856	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:614856	COL1A2	1278	HP:0001252	Muscular hypotonia
OMIM:614856	COL1A2	1278	HP:0002751	Kyphoscoliosis
OMIM:614856	COL1A2	1278	HP:0000337	Broad forehead
OMIM:614856	COL1A2	1278	HP:0000233	Thin vermilion border
OMIM:614856	COL1A2	1278	HP:0001537	Umbilical hernia
OMIM:614856	COL1A2	1278	HP:0004322	Short stature
OMIM:614856	COL1A2	1278	HP:0000768	Pectus carinatum
OMIM:614856	COL1A2	1278	HP:0003083	Dislocated radial head
OMIM:614856	COL1A2	1278	HP:0000939	Osteoporosis
OMIM:614856	COL1A2	1278	HP:0002194	Delayed gross motor development
OMIM:614856	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:614856	P3H1	64175	HP:0001166	Arachnodactyly
OMIM:614856	P3H1	64175	HP:0000926	Platyspondyly
OMIM:614856	P3H1	64175	HP:0002645	Wormian bones
OMIM:614856	P3H1	64175	HP:0003202	Skeletal muscle atrophy
OMIM:614856	P3H1	64175	HP:0011001	Increased bone mineral density
OMIM:614856	P3H1	64175	HP:0004325	Decreased body weight
OMIM:614856	P3H1	64175	HP:0000411	Protruding ear
OMIM:614856	P3H1	64175	HP:0001382	Joint hypermobility
OMIM:614856	P3H1	64175	HP:0000325	Triangular face
OMIM:614856	P3H1	64175	HP:0000527	Long eyelashes
OMIM:614856	P3H1	64175	HP:0000343	Long philtrum
OMIM:614856	P3H1	64175	HP:0000592	Blue sclerae
OMIM:614856	P3H1	64175	HP:0001252	Muscular hypotonia
OMIM:614856	P3H1	64175	HP:0002751	Kyphoscoliosis
OMIM:614856	P3H1	64175	HP:0000337	Broad forehead
OMIM:614856	P3H1	64175	HP:0000233	Thin vermilion border
OMIM:614856	P3H1	64175	HP:0001537	Umbilical hernia
OMIM:614856	P3H1	64175	HP:0004322	Short stature
OMIM:614856	P3H1	64175	HP:0000768	Pectus carinatum
OMIM:614856	P3H1	64175	HP:0003083	Dislocated radial head
OMIM:614856	P3H1	64175	HP:0000939	Osteoporosis
OMIM:614856	P3H1	64175	HP:0002194	Delayed gross motor development
OMIM:614856	P3H1	64175	HP:0000007	Autosomal recessive inheritance
OMIM:614856	WNT1	7471	HP:0001166	Arachnodactyly
OMIM:614856	WNT1	7471	HP:0000926	Platyspondyly
OMIM:614856	WNT1	7471	HP:0002645	Wormian bones
OMIM:614856	WNT1	7471	HP:0003202	Skeletal muscle atrophy
OMIM:614856	WNT1	7471	HP:0011001	Increased bone mineral density
OMIM:614856	WNT1	7471	HP:0004325	Decreased body weight
OMIM:614856	WNT1	7471	HP:0000411	Protruding ear
OMIM:614856	WNT1	7471	HP:0001382	Joint hypermobility
OMIM:614856	WNT1	7471	HP:0000325	Triangular face
OMIM:614856	WNT1	7471	HP:0000527	Long eyelashes
OMIM:614856	WNT1	7471	HP:0000343	Long philtrum
OMIM:614856	WNT1	7471	HP:0000592	Blue sclerae
OMIM:614856	WNT1	7471	HP:0001252	Muscular hypotonia
OMIM:614856	WNT1	7471	HP:0002751	Kyphoscoliosis
OMIM:614856	WNT1	7471	HP:0000337	Broad forehead
OMIM:614856	WNT1	7471	HP:0000233	Thin vermilion border
OMIM:614856	WNT1	7471	HP:0001537	Umbilical hernia
OMIM:614856	WNT1	7471	HP:0004322	Short stature
OMIM:614856	WNT1	7471	HP:0000768	Pectus carinatum
OMIM:614856	WNT1	7471	HP:0003083	Dislocated radial head
OMIM:614856	WNT1	7471	HP:0000939	Osteoporosis
OMIM:614856	WNT1	7471	HP:0002194	Delayed gross motor development
OMIM:614856	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:147050	SPINK5	11005	HP:0000006	Autosomal dominant inheritance
OMIM:147050	SPINK5	11005	HP:0000964	Eczema
OMIM:147050	SPINK5	11005	HP:0002099	Asthma
OMIM:615206	CARD11	84433	HP:0000007	Autosomal recessive inheritance
OMIM:615206	CARD11	84433	HP:0002090	Pneumonia
OMIM:615206	CARD11	84433	HP:0003593	Infantile onset
OMIM:615206	CARD11	84433	HP:0004313	Decreased antibody level in blood
OMIM:615206	CARD11	84433	HP:0002205	Recurrent respiratory infections
OMIM:615206	CARD11	84433	HP:0002721	Immunodeficiency
OMIM:133200	GJB3	2707	HP:0008069	Neoplasm of the skin
OMIM:133200	GJB3	2707	HP:0000975	Hyperhidrosis
OMIM:133200	GJB3	2707	HP:0000988	Skin rash
OMIM:133200	GJB3	2707	HP:0001376	Limitation of joint mobility
OMIM:133200	GJB3	2707	HP:0001156	Brachydactyly syndrome
OMIM:133200	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:133200	GJB3	2707	HP:0000377	Abnormality of the pinna
OMIM:133200	GJB3	2707	HP:0000958	Dry skin
OMIM:133200	GJB3	2707	HP:0000035	Abnormality of the testis
OMIM:133200	GJB3	2707	HP:0001596	Alopecia
OMIM:133200	GJB3	2707	HP:0001824	Weight loss
OMIM:133200	GJB3	2707	HP:0003593	Infantile onset
OMIM:133200	GJB3	2707	HP:0000992	Cutaneous photosensitivity
OMIM:133200	GJB3	2707	HP:0000518	Cataract
OMIM:133200	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:133200	GJB3	2707	HP:0000252	Microcephaly
OMIM:133200	GJB3	2707	HP:0001231	Abnormality of the fingernails
OMIM:133200	GJB3	2707	HP:0001131	Corneal dystrophy
OMIM:133200	GJB3	2707	HP:0001034	Hypermelanotic macule
OMIM:133200	GJB3	2707	HP:0000819	Diabetes mellitus
OMIM:133200	GJB3	2707	HP:0004322	Short stature
OMIM:133200	GJB3	2707	HP:0000501	Glaucoma
OMIM:133200	GJB3	2707	HP:0001182	Tapered finger
OMIM:133200	GJB3	2707	HP:0000365	Hearing impairment
OMIM:133200	GJB3	2707	HP:0007759	Opacification of the corneal stroma
OMIM:133200	GJB3	2707	HP:0100543	Cognitive impairment
OMIM:133200	GJB3	2707	HP:0000998	Hypertrichosis
OMIM:133200	GJA1	2697	HP:0008069	Neoplasm of the skin
OMIM:133200	GJA1	2697	HP:0000975	Hyperhidrosis
OMIM:133200	GJA1	2697	HP:0000988	Skin rash
OMIM:133200	GJA1	2697	HP:0001376	Limitation of joint mobility
OMIM:133200	GJA1	2697	HP:0001156	Brachydactyly syndrome
OMIM:133200	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:133200	GJA1	2697	HP:0000377	Abnormality of the pinna
OMIM:133200	GJA1	2697	HP:0000958	Dry skin
OMIM:133200	GJA1	2697	HP:0000035	Abnormality of the testis
OMIM:133200	GJA1	2697	HP:0001596	Alopecia
OMIM:133200	GJA1	2697	HP:0001824	Weight loss
OMIM:133200	GJA1	2697	HP:0003593	Infantile onset
OMIM:133200	GJA1	2697	HP:0000992	Cutaneous photosensitivity
OMIM:133200	GJA1	2697	HP:0000518	Cataract
OMIM:133200	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:133200	GJA1	2697	HP:0000252	Microcephaly
OMIM:133200	GJA1	2697	HP:0001231	Abnormality of the fingernails
OMIM:133200	GJA1	2697	HP:0001131	Corneal dystrophy
OMIM:133200	GJA1	2697	HP:0001034	Hypermelanotic macule
OMIM:133200	GJA1	2697	HP:0000819	Diabetes mellitus
OMIM:133200	GJA1	2697	HP:0004322	Short stature
OMIM:133200	GJA1	2697	HP:0000501	Glaucoma
OMIM:133200	GJA1	2697	HP:0001182	Tapered finger
OMIM:133200	GJA1	2697	HP:0000365	Hearing impairment
OMIM:133200	GJA1	2697	HP:0007759	Opacification of the corneal stroma
OMIM:133200	GJA1	2697	HP:0100543	Cognitive impairment
OMIM:133200	GJA1	2697	HP:0000998	Hypertrichosis
OMIM:133200	GJB4	127534	HP:0008069	Neoplasm of the skin
OMIM:133200	GJB4	127534	HP:0000975	Hyperhidrosis
OMIM:133200	GJB4	127534	HP:0000988	Skin rash
OMIM:133200	GJB4	127534	HP:0001376	Limitation of joint mobility
OMIM:133200	GJB4	127534	HP:0001156	Brachydactyly syndrome
OMIM:133200	GJB4	127534	HP:0000006	Autosomal dominant inheritance
OMIM:133200	GJB4	127534	HP:0000377	Abnormality of the pinna
OMIM:133200	GJB4	127534	HP:0000958	Dry skin
OMIM:133200	GJB4	127534	HP:0000035	Abnormality of the testis
OMIM:133200	GJB4	127534	HP:0001596	Alopecia
OMIM:133200	GJB4	127534	HP:0001824	Weight loss
OMIM:133200	GJB4	127534	HP:0003593	Infantile onset
OMIM:133200	GJB4	127534	HP:0000992	Cutaneous photosensitivity
OMIM:133200	GJB4	127534	HP:0000518	Cataract
OMIM:133200	GJB4	127534	HP:0000007	Autosomal recessive inheritance
OMIM:133200	GJB4	127534	HP:0000252	Microcephaly
OMIM:133200	GJB4	127534	HP:0001231	Abnormality of the fingernails
OMIM:133200	GJB4	127534	HP:0001131	Corneal dystrophy
OMIM:133200	GJB4	127534	HP:0001034	Hypermelanotic macule
OMIM:133200	GJB4	127534	HP:0000819	Diabetes mellitus
OMIM:133200	GJB4	127534	HP:0004322	Short stature
OMIM:133200	GJB4	127534	HP:0000501	Glaucoma
OMIM:133200	GJB4	127534	HP:0001182	Tapered finger
OMIM:133200	GJB4	127534	HP:0000365	Hearing impairment
OMIM:133200	GJB4	127534	HP:0007759	Opacification of the corneal stroma
OMIM:133200	GJB4	127534	HP:0100543	Cognitive impairment
OMIM:133200	GJB4	127534	HP:0000998	Hypertrichosis
OMIM:256710	MYO5A	4644	HP:0000639	Nystagmus
OMIM:256710	MYO5A	4644	HP:0001337	Tremor
OMIM:256710	MYO5A	4644	HP:0001010	Hypopigmentation of the skin
OMIM:256710	MYO5A	4644	HP:0000007	Autosomal recessive inheritance
OMIM:256710	MYO5A	4644	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:256710	MYO5A	4644	HP:0001251	Ataxia
OMIM:256710	MYO5A	4644	HP:0000486	Strabismus
OMIM:256710	MYO5A	4644	HP:0001257	Spasticity
OMIM:256710	MYO5A	4644	HP:0007440	Generalized hyperpigmentation
OMIM:256710	MYO5A	4644	HP:0002311	Incoordination
OMIM:256710	MYO5A	4644	HP:0002216	Premature graying of hair
OMIM:256710	MYO5A	4644	HP:0003593	Infantile onset
OMIM:256710	MYO5A	4644	HP:0001250	Seizures
OMIM:256710	MYO5A	4644	HP:0000648	Optic atrophy
OMIM:256710	MYO5A	4644	HP:0001263	Global developmental delay
OMIM:256710	MYO5A	4644	HP:0001103	Abnormality of the macula
OMIM:256710	MYO5A	4644	HP:0001249	Intellectual disability
OMIM:256710	MYO5A	4644	HP:0100543	Cognitive impairment
OMIM:256710	MYO5A	4644	HP:0000545	Myopia
OMIM:256710	MYO5A	4644	HP:0001252	Muscular hypotonia
OMIM:256710	MYO5A	4644	HP:0002205	Recurrent respiratory infections
OMIM:256710	MYO5A	4644	HP:0002120	Cerebral cortical atrophy
OMIM:256710	MYO5A	4644	HP:0005599	Hypopigmentation of hair
OMIM:256710	MYO5A	4644	HP:0001276	Hypertonia
OMIM:256710	MYO5A	4644	HP:0000577	Exotropia
OMIM:256710	MYO5A	4644	HP:0007513	Generalized hypopigmentation
OMIM:256710	MYO5A	4644	HP:0003819	Death in childhood
OMIM:274150	ADAMTS13	11093	HP:0002098	Respiratory distress
OMIM:274150	ADAMTS13	11093	HP:0002151	Increased serum lactate
OMIM:274150	ADAMTS13	11093	HP:0000093	Proteinuria
OMIM:274150	ADAMTS13	11093	HP:0001937	Microangiopathic hemolytic anemia
OMIM:274150	ADAMTS13	11093	HP:0001425	Heterogeneous
OMIM:274150	ADAMTS13	11093	HP:0000007	Autosomal recessive inheritance
OMIM:274150	ADAMTS13	11093	HP:0001923	Reticulocytosis
OMIM:274150	ADAMTS13	11093	HP:0003138	Increased blood urea nitrogen (BUN)
OMIM:274150	ADAMTS13	11093	HP:0005575	Hemolytic-uremic syndrome
OMIM:274150	ADAMTS13	11093	HP:0001945	Fever
OMIM:274150	ADAMTS13	11093	HP:0003259	Elevated serum creatinine
OMIM:274150	ADAMTS13	11093	HP:0006579	Prolonged neonatal jaundice
OMIM:274150	ADAMTS13	11093	HP:0001337	Tremor
OMIM:274150	ADAMTS13	11093	HP:0001873	Thrombocytopenia
OMIM:614833	RTTN	25914	HP:0000252	Microcephaly
OMIM:614833	RTTN	25914	HP:0002126	Polymicrogyria
OMIM:614833	RTTN	25914	HP:0007256	Abnormal pyramidal signs
OMIM:614833	RTTN	25914	HP:0000007	Autosomal recessive inheritance
OMIM:614833	RTTN	25914	HP:0002342	Intellectual disability, moderate
OMIM:614833	RTTN	25914	HP:0001260	Dysarthria
OMIM:614833	RTTN	25914	HP:0002353	EEG abnormality
OMIM:614833	RTTN	25914	HP:0001257	Spasticity
OMIM:614833	RTTN	25914	HP:0002465	Poor speech
OMIM:614833	RTTN	25914	HP:0001250	Seizures
OMIM:614833	RTTN	25914	HP:0001273	Abnormality of the corpus callosum
OMIM:149700	IGSF3	3321	HP:0000509	Conjunctivitis
OMIM:149700	IGSF3	3321	HP:0000246	Sinusitis
OMIM:149700	IGSF3	3321	HP:0000006	Autosomal dominant inheritance
OMIM:149700	IGSF3	3321	HP:0009926	Increased lacrimation
OMIM:609428	TUBB2B	347733	HP:0000508	Ptosis
OMIM:609428	TUBB2B	347733	HP:0009702	Carpal synostosis
OMIM:609428	TUBB2B	347733	HP:0000007	Autosomal recessive inheritance
OMIM:609428	TUBB2B	347733	HP:0001159	Syndactyly
OMIM:609428	PHOX2A	401	HP:0000508	Ptosis
OMIM:609428	PHOX2A	401	HP:0009702	Carpal synostosis
OMIM:609428	PHOX2A	401	HP:0000007	Autosomal recessive inheritance
OMIM:609428	PHOX2A	401	HP:0001159	Syndactyly
OMIM:609428	KIF21A	55605	HP:0000508	Ptosis
OMIM:609428	KIF21A	55605	HP:0009702	Carpal synostosis
OMIM:609428	KIF21A	55605	HP:0000007	Autosomal recessive inheritance
OMIM:609428	KIF21A	55605	HP:0001159	Syndactyly
OMIM:609428	COL25A1	84570	HP:0000508	Ptosis
OMIM:609428	COL25A1	84570	HP:0009702	Carpal synostosis
OMIM:609428	COL25A1	84570	HP:0000007	Autosomal recessive inheritance
OMIM:609428	COL25A1	84570	HP:0001159	Syndactyly
OMIM:609428	TUBB3	10381	HP:0000508	Ptosis
OMIM:609428	TUBB3	10381	HP:0009702	Carpal synostosis
OMIM:609428	TUBB3	10381	HP:0000007	Autosomal recessive inheritance
OMIM:609428	TUBB3	10381	HP:0001159	Syndactyly
OMIM:272440	CKAP2L	150468	HP:0000430	Underdeveloped nasal alae
OMIM:272440	CKAP2L	150468	HP:0004209	Clinodactyly of the 5th finger
OMIM:272440	CKAP2L	150468	HP:0000028	Cryptorchidism
OMIM:272440	CKAP2L	150468	HP:0000252	Microcephaly
OMIM:272440	CKAP2L	150468	HP:0000954	Single transverse palmar crease
OMIM:272440	CKAP2L	150468	HP:0000998	Hypertrichosis
OMIM:272440	CKAP2L	150468	HP:0001629	Ventricular septal defect
OMIM:272440	CKAP2L	150468	HP:0000668	Hypodontia
OMIM:272440	CKAP2L	150468	HP:0002167	Neurological speech impairment
OMIM:272440	CKAP2L	150468	HP:0000520	Proptosis
OMIM:272440	CKAP2L	150468	HP:0001332	Dystonia
OMIM:272440	CKAP2L	150468	HP:0002750	Delayed skeletal maturation
OMIM:272440	CKAP2L	150468	HP:0001250	Seizures
OMIM:272440	CKAP2L	150468	HP:0001272	Cerebellar atrophy
OMIM:272440	CKAP2L	150468	HP:0001511	Intrauterine growth retardation
OMIM:272440	CKAP2L	150468	HP:0004322	Short stature
OMIM:272440	CKAP2L	150468	HP:0006101	Finger syndactyly
OMIM:272440	CKAP2L	150468	HP:0000322	Short philtrum
OMIM:272440	CKAP2L	150468	HP:0000505	Visual impairment
OMIM:272440	CKAP2L	150468	HP:0000062	Ambiguous genitalia
OMIM:272440	CKAP2L	150468	HP:0000426	Prominent nasal bridge
OMIM:272440	CKAP2L	150468	HP:0000691	Microdontia
OMIM:272440	CKAP2L	150468	HP:0008070	Sparse hair
OMIM:272440	CKAP2L	150468	HP:0000431	Wide nasal bridge
OMIM:272440	CKAP2L	150468	HP:0000648	Optic atrophy
OMIM:272440	CKAP2L	150468	HP:0001249	Intellectual disability
OMIM:272440	CKAP2L	150468	HP:0000337	Broad forehead
OMIM:272440	CKAP2L	150468	HP:0000007	Autosomal recessive inheritance
OMIM:272440	CKAP2L	150468	HP:0000233	Thin vermilion border
OMIM:272440	CKAP2L	150468	HP:0002007	Frontal bossing
OMIM:272440	CKAP2L	150468	HP:0008897	Postnatal growth retardation
OMIM:272440	CKAP2L	150468	HP:0100543	Cognitive impairment
OMIM:272440	CKAP2L	150468	HP:0004325	Decreased body weight
OMIM:218800	UGT1A1	54658	HP:0000952	Jaundice
OMIM:218800	UGT1A1	54658	HP:0002354	Memory impairment
OMIM:218800	UGT1A1	54658	HP:0000007	Autosomal recessive inheritance
OMIM:218800	UGT1A1	54658	HP:0001250	Seizures
OMIM:218800	UGT1A1	54658	HP:0000365	Hearing impairment
OMIM:218800	UGT1A1	54658	HP:0001392	Abnormality of the liver
OMIM:218800	UGT1A1	54658	HP:0001298	Encephalopathy
OMIM:218800	UGT1A1	54658	HP:0000597	Ophthalmoparesis
OMIM:190351	TRPS1	7227	HP:0000411	Protruding ear
OMIM:190351	TRPS1	7227	HP:0000006	Autosomal dominant inheritance
OMIM:190351	TRPS1	7227	HP:0004322	Short stature
OMIM:190351	TRPS1	7227	HP:0010049	Short metacarpal
OMIM:190351	TRPS1	7227	HP:0009803	Short phalanx of finger
OMIM:190351	TRPS1	7227	HP:0002750	Delayed skeletal maturation
OMIM:190351	TRPS1	7227	HP:0000707	Abnormality of the nervous system
OMIM:190351	TRPS1	7227	HP:0002650	Scoliosis
OMIM:190351	TRPS1	7227	HP:0005338	Sparse lateral eyebrow
OMIM:190351	TRPS1	7227	HP:0000319	Smooth philtrum
OMIM:190351	TRPS1	7227	HP:0000938	Osteopenia
OMIM:190351	TRPS1	7227	HP:0004279	Short palm
OMIM:190351	TRPS1	7227	HP:0000219	Thin upper lip vermilion
OMIM:190351	TRPS1	7227	HP:0010743	Short metatarsal
OMIM:190351	TRPS1	7227	HP:0000430	Underdeveloped nasal alae
OMIM:190351	TRPS1	7227	HP:0000343	Long philtrum
OMIM:190351	TRPS1	7227	HP:0001773	Short foot
OMIM:190351	TRPS1	7227	HP:0009381	Short finger
OMIM:190351	TRPS1	7227	HP:0008070	Sparse hair
OMIM:190351	TRPS1	7227	HP:0000678	Dental crowding
OMIM:307800	PHEX	5251	HP:0002176	Spinal cord compression
OMIM:307800	PHEX	5251	HP:0002757	Recurrent fractures
OMIM:307800	PHEX	5251	HP:0000365	Hearing impairment
OMIM:307800	PHEX	5251	HP:0002007	Frontal bossing
OMIM:307800	PHEX	5251	HP:0002758	Osteoarthritis
OMIM:307800	PHEX	5251	HP:0003416	Spinal canal stenosis
OMIM:307800	PHEX	5251	HP:0004493	Craniofacial hyperostosis
OMIM:307800	PHEX	5251	HP:0002970	Genu varum
OMIM:307800	PHEX	5251	HP:0002980	Femoral bowing
OMIM:307800	PHEX	5251	HP:0002653	Bone pain
OMIM:307800	PHEX	5251	HP:0001423	X-linked dominant inheritance
OMIM:307800	PHEX	5251	HP:0002829	Arthralgia
OMIM:307800	PHEX	5251	HP:0002982	Tibial bowing
OMIM:307800	PHEX	5251	HP:0004322	Short stature
OMIM:307800	PHEX	5251	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:307800	PHEX	5251	HP:0000682	Abnormality of dental enamel
OMIM:307800	PHEX	5251	HP:0003025	Metaphyseal irregularity
OMIM:307800	PHEX	5251	HP:0000944	Abnormality of the metaphyses
OMIM:307800	PHEX	5251	HP:0002148	Hypophosphatemia
OMIM:307800	PHEX	5251	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:307800	PHEX	5251	HP:0003812	Phenotypic variability
OMIM:307800	PHEX	5251	HP:0002979	Bowing of the legs
OMIM:613071	SCNN1A	6337	HP:0000006	Autosomal dominant inheritance
OMIM:613071	SCNN1A	6337	HP:0002110	Bronchiectasis
OMIM:613071	SCNN1B	6338	HP:0000006	Autosomal dominant inheritance
OMIM:613071	SCNN1B	6338	HP:0002110	Bronchiectasis
OMIM:613071	SCNN1G	6340	HP:0000006	Autosomal dominant inheritance
OMIM:613071	SCNN1G	6340	HP:0002110	Bronchiectasis
OMIM:613071	CFTR	1080	HP:0000006	Autosomal dominant inheritance
OMIM:613071	CFTR	1080	HP:0002110	Bronchiectasis
OMIM:221820	CSF1R	1436	HP:0000006	Autosomal dominant inheritance
OMIM:221820	CSF1R	1436	HP:0002354	Memory impairment
OMIM:221820	CSF1R	1436	HP:0001257	Spasticity
OMIM:221820	CSF1R	1436	HP:0001347	Hyperreflexia
OMIM:221820	CSF1R	1436	HP:0002171	Gliosis
OMIM:221820	CSF1R	1436	HP:0002067	Bradykinesia
OMIM:221820	CSF1R	1436	HP:0002529	Neuronal loss in central nervous system
OMIM:221820	CSF1R	1436	HP:0002500	Abnormality of the cerebral white matter
OMIM:221820	CSF1R	1436	HP:0003581	Adult onset
OMIM:221820	CSF1R	1436	HP:0000716	Depression
OMIM:221820	CSF1R	1436	HP:0002352	Leukoencephalopathy
OMIM:221820	CSF1R	1436	HP:0003678	Rapidly progressive
OMIM:221820	CSF1R	1436	HP:0007305	CNS demyelination
OMIM:221820	CSF1R	1436	HP:0002172	Postural instability
OMIM:221820	CSF1R	1436	HP:0002063	Rigidity
OMIM:221820	CSF1R	1436	HP:0002186	Apraxia
OMIM:117600	NTRK3	4916	HP:0000006	Autosomal dominant inheritance
OMIM:117600	ETV6	2120	HP:0000006	Autosomal dominant inheritance
OMIM:610244	ZFYVE27	118813	HP:0003487	Babinski sign
OMIM:610244	ZFYVE27	118813	HP:0001762	Talipes equinovarus
OMIM:610244	ZFYVE27	118813	HP:0002061	Lower limb spasticity
OMIM:610244	ZFYVE27	118813	HP:0002064	Spastic gait
OMIM:610244	ZFYVE27	118813	HP:0000006	Autosomal dominant inheritance
OMIM:610244	ZFYVE27	118813	HP:0001258	Spastic paraplegia
OMIM:610244	ZFYVE27	118813	HP:0007340	Lower limb muscle weakness
OMIM:610244	ZFYVE27	118813	HP:0011448	Ankle clonus
OMIM:605074	MET	4233	HP:0000006	Autosomal dominant inheritance
OMIM:605074	MET	4233	HP:0003829	Incomplete penetrance
OMIM:605074	PRCC	5546	HP:0000006	Autosomal dominant inheritance
OMIM:605074	PRCC	5546	HP:0003829	Incomplete penetrance
OMIM:606054	PCCA	5095	HP:0006846	Acute encephalopathy
OMIM:606054	PCCA	5095	HP:0000964	Eczema
OMIM:606054	PCCA	5095	HP:0001250	Seizures
OMIM:606054	PCCA	5095	HP:0001987	Hyperammonemia
OMIM:606054	PCCA	5095	HP:0002154	Hyperglycinemia
OMIM:606054	PCCA	5095	HP:0001639	Hypertrophic cardiomyopathy
OMIM:606054	PCCA	5095	HP:0002240	Hepatomegaly
OMIM:606054	PCCA	5095	HP:0011695	Cerebellar hemorrhage
OMIM:606054	PCCA	5095	HP:0003355	Aminoaciduria
OMIM:606054	PCCA	5095	HP:0001332	Dystonia
OMIM:606054	PCCA	5095	HP:0000007	Autosomal recessive inheritance
OMIM:606054	PCCA	5095	HP:0001943	Hypoglycemia
OMIM:606054	PCCA	5095	HP:0002509	Limb hypertonia
OMIM:606054	PCCA	5095	HP:0001733	Pancreatitis
OMIM:606054	PCCA	5095	HP:0001873	Thrombocytopenia
OMIM:606054	PCCA	5095	HP:0001875	Neutropenia
OMIM:606054	PCCA	5095	HP:0002104	Apnea
OMIM:606054	PCCA	5095	HP:0001942	Metabolic acidosis
OMIM:606054	PCCA	5095	HP:0000939	Osteoporosis
OMIM:606054	PCCA	5095	HP:0001508	Failure to thrive
OMIM:606054	PCCA	5095	HP:0001944	Dehydration
OMIM:606054	PCCA	5095	HP:0002013	Vomiting
OMIM:606054	PCCA	5095	HP:0100543	Cognitive impairment
OMIM:606054	PCCA	5095	HP:0001876	Pancytopenia
OMIM:606054	PCCA	5095	HP:0001259	Coma
OMIM:606054	PCCA	5095	HP:0001638	Cardiomyopathy
OMIM:606054	PCCA	5095	HP:0003128	Lactic acidosis
OMIM:606054	PCCA	5095	HP:0001263	Global developmental delay
OMIM:606054	PCCA	5095	HP:0002059	Cerebral atrophy
OMIM:606054	PCCA	5095	HP:0002789	Tachypnea
OMIM:606054	PCCA	5095	HP:0003108	Hyperglycinuria
OMIM:606054	PCCA	5095	HP:0000738	Hallucinations
OMIM:606054	PCCA	5095	HP:0002019	Constipation
OMIM:606054	PCCA	5095	HP:0004322	Short stature
OMIM:606054	PCCA	5095	HP:0008872	Feeding difficulties in infancy
OMIM:606054	PCCA	5095	HP:0001254	Lethargy
OMIM:606054	PCCA	5095	HP:0001903	Anemia
OMIM:606054	PCCA	5095	HP:0011675	Arrhythmia
OMIM:606054	PCCA	5095	HP:0003353	Propionyl-CoA carboxylase deficiency
OMIM:606054	PCCA	5095	HP:0008936	Muscular hypotonia of the trunk
OMIM:606054	PCCA	5095	HP:0010978	Abnormality of immune system physiology
OMIM:606054	PCCB	5096	HP:0006846	Acute encephalopathy
OMIM:606054	PCCB	5096	HP:0000964	Eczema
OMIM:606054	PCCB	5096	HP:0001250	Seizures
OMIM:606054	PCCB	5096	HP:0001987	Hyperammonemia
OMIM:606054	PCCB	5096	HP:0002154	Hyperglycinemia
OMIM:606054	PCCB	5096	HP:0001639	Hypertrophic cardiomyopathy
OMIM:606054	PCCB	5096	HP:0002240	Hepatomegaly
OMIM:606054	PCCB	5096	HP:0011695	Cerebellar hemorrhage
OMIM:606054	PCCB	5096	HP:0003355	Aminoaciduria
OMIM:606054	PCCB	5096	HP:0001332	Dystonia
OMIM:606054	PCCB	5096	HP:0000007	Autosomal recessive inheritance
OMIM:606054	PCCB	5096	HP:0001943	Hypoglycemia
OMIM:606054	PCCB	5096	HP:0002509	Limb hypertonia
OMIM:606054	PCCB	5096	HP:0001733	Pancreatitis
OMIM:606054	PCCB	5096	HP:0001873	Thrombocytopenia
OMIM:606054	PCCB	5096	HP:0001875	Neutropenia
OMIM:606054	PCCB	5096	HP:0002104	Apnea
OMIM:606054	PCCB	5096	HP:0001942	Metabolic acidosis
OMIM:606054	PCCB	5096	HP:0000939	Osteoporosis
OMIM:606054	PCCB	5096	HP:0001508	Failure to thrive
OMIM:606054	PCCB	5096	HP:0001944	Dehydration
OMIM:606054	PCCB	5096	HP:0002013	Vomiting
OMIM:606054	PCCB	5096	HP:0100543	Cognitive impairment
OMIM:606054	PCCB	5096	HP:0001876	Pancytopenia
OMIM:606054	PCCB	5096	HP:0001259	Coma
OMIM:606054	PCCB	5096	HP:0001638	Cardiomyopathy
OMIM:606054	PCCB	5096	HP:0003128	Lactic acidosis
OMIM:606054	PCCB	5096	HP:0001263	Global developmental delay
OMIM:606054	PCCB	5096	HP:0002059	Cerebral atrophy
OMIM:606054	PCCB	5096	HP:0002789	Tachypnea
OMIM:606054	PCCB	5096	HP:0003108	Hyperglycinuria
OMIM:606054	PCCB	5096	HP:0000738	Hallucinations
OMIM:606054	PCCB	5096	HP:0002019	Constipation
OMIM:606054	PCCB	5096	HP:0004322	Short stature
OMIM:606054	PCCB	5096	HP:0008872	Feeding difficulties in infancy
OMIM:606054	PCCB	5096	HP:0001254	Lethargy
OMIM:606054	PCCB	5096	HP:0001903	Anemia
OMIM:606054	PCCB	5096	HP:0011675	Arrhythmia
OMIM:606054	PCCB	5096	HP:0003353	Propionyl-CoA carboxylase deficiency
OMIM:606054	PCCB	5096	HP:0008936	Muscular hypotonia of the trunk
OMIM:606054	PCCB	5096	HP:0010978	Abnormality of immune system physiology
OMIM:613884	RB1	5925	HP:0000465	Webbed neck
OMIM:613884	RB1	5925	HP:0001360	Holoprosencephaly
OMIM:613884	RB1	5925	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:613884	RB1	5925	HP:0001511	Intrauterine growth retardation
OMIM:613884	RB1	5925	HP:0000518	Cataract
OMIM:613884	RB1	5925	HP:0100543	Cognitive impairment
OMIM:613884	RB1	5925	HP:0000232	Everted lower lip vermilion
OMIM:613884	RB1	5925	HP:0008936	Muscular hypotonia of the trunk
OMIM:613884	RB1	5925	HP:0001249	Intellectual disability
OMIM:613884	RB1	5925	HP:0000337	Broad forehead
OMIM:613884	RB1	5925	HP:0000750	Delayed speech and language development
OMIM:613884	RB1	5925	HP:0006101	Finger syndactyly
OMIM:613884	RB1	5925	HP:0007477	Abnormal dermatoglyphics
OMIM:613884	RB1	5925	HP:0011024	Abnormality of the gastrointestinal tract
OMIM:613884	RB1	5925	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613884	RB1	5925	HP:0000426	Prominent nasal bridge
OMIM:613884	RB1	5925	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:613884	RB1	5925	HP:0000414	Bulbous nose
OMIM:613884	RB1	5925	HP:0000219	Thin upper lip vermilion
OMIM:613884	RB1	5925	HP:0004322	Short stature
OMIM:613884	RB1	5925	HP:0001252	Muscular hypotonia
OMIM:613884	RB1	5925	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:613884	RB1	5925	HP:0000252	Microcephaly
OMIM:613884	RB1	5925	HP:0002007	Frontal bossing
OMIM:613884	RB1	5925	HP:0000508	Ptosis
OMIM:613884	RB1	5925	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613884	RB1	5925	HP:0000006	Autosomal dominant inheritance
OMIM:613884	RB1	5925	HP:0000601	Hypotelorism
OMIM:613884	RB1	5925	HP:0000316	Hypertelorism
OMIM:613884	RB1	5925	HP:0002916	Abnormality of chromosome segregation
OMIM:613884	RB1	5925	HP:0000286	Epicanthus
OMIM:613884	RB1	5925	HP:0000470	Short neck
OMIM:613884	RB1	5925	HP:0000612	Iris coloboma
OMIM:613884	RB1	5925	HP:0000391	Thickened helices
OMIM:613884	RB1	5925	HP:0001156	Brachydactyly syndrome
OMIM:613884	RB1	5925	HP:0000268	Dolichocephaly
OMIM:613884	RB1	5925	HP:0000243	Trigonocephaly
OMIM:613884	RB1	5925	HP:0004209	Clinodactyly of the 5th finger
OMIM:613884	RB1	5925	HP:0000347	Micrognathia
OMIM:300514	FANCC	2176	HP:0009777	Absent thumb
OMIM:300514	FANCC	2176	HP:0001903	Anemia
OMIM:300514	FANCC	2176	HP:0003468	Abnormality of the vertebrae
OMIM:300514	FANCC	2176	HP:0003220	Abnormality of chromosome stability
OMIM:300514	FANCC	2176	HP:0002575	Tracheoesophageal fistula
OMIM:300514	FANCC	2176	HP:0006525	Lung segmentation defects
OMIM:300514	FANCC	2176	HP:0001419	X-linked recessive inheritance
OMIM:300514	FANCC	2176	HP:0000369	Low-set ears
OMIM:300514	FANCC	2176	HP:0000104	Renal agenesis
OMIM:300514	FANCC	2176	HP:0003974	Absent radius
OMIM:300514	FANCC	2176	HP:0001510	Growth delay
OMIM:300514	FANCC	2176	HP:0002119	Ventriculomegaly
OMIM:300514	FANCD2	2177	HP:0009777	Absent thumb
OMIM:300514	FANCD2	2177	HP:0001903	Anemia
OMIM:300514	FANCD2	2177	HP:0003468	Abnormality of the vertebrae
OMIM:300514	FANCD2	2177	HP:0003220	Abnormality of chromosome stability
OMIM:300514	FANCD2	2177	HP:0002575	Tracheoesophageal fistula
OMIM:300514	FANCD2	2177	HP:0006525	Lung segmentation defects
OMIM:300514	FANCD2	2177	HP:0001419	X-linked recessive inheritance
OMIM:300514	FANCD2	2177	HP:0000369	Low-set ears
OMIM:300514	FANCD2	2177	HP:0000104	Renal agenesis
OMIM:300514	FANCD2	2177	HP:0003974	Absent radius
OMIM:300514	FANCD2	2177	HP:0001510	Growth delay
OMIM:300514	FANCD2	2177	HP:0002119	Ventriculomegaly
OMIM:300514	FANCM	57697	HP:0009777	Absent thumb
OMIM:300514	FANCM	57697	HP:0001903	Anemia
OMIM:300514	FANCM	57697	HP:0003468	Abnormality of the vertebrae
OMIM:300514	FANCM	57697	HP:0003220	Abnormality of chromosome stability
OMIM:300514	FANCM	57697	HP:0002575	Tracheoesophageal fistula
OMIM:300514	FANCM	57697	HP:0006525	Lung segmentation defects
OMIM:300514	FANCM	57697	HP:0001419	X-linked recessive inheritance
OMIM:300514	FANCM	57697	HP:0000369	Low-set ears
OMIM:300514	FANCM	57697	HP:0000104	Renal agenesis
OMIM:300514	FANCM	57697	HP:0003974	Absent radius
OMIM:300514	FANCM	57697	HP:0001510	Growth delay
OMIM:300514	FANCM	57697	HP:0002119	Ventriculomegaly
OMIM:300514	RAD51C	5889	HP:0009777	Absent thumb
OMIM:300514	RAD51C	5889	HP:0001903	Anemia
OMIM:300514	RAD51C	5889	HP:0003468	Abnormality of the vertebrae
OMIM:300514	RAD51C	5889	HP:0003220	Abnormality of chromosome stability
OMIM:300514	RAD51C	5889	HP:0002575	Tracheoesophageal fistula
OMIM:300514	RAD51C	5889	HP:0006525	Lung segmentation defects
OMIM:300514	RAD51C	5889	HP:0001419	X-linked recessive inheritance
OMIM:300514	RAD51C	5889	HP:0000369	Low-set ears
OMIM:300514	RAD51C	5889	HP:0000104	Renal agenesis
OMIM:300514	RAD51C	5889	HP:0003974	Absent radius
OMIM:300514	RAD51C	5889	HP:0001510	Growth delay
OMIM:300514	RAD51C	5889	HP:0002119	Ventriculomegaly
OMIM:300514	UBE2T	29089	HP:0009777	Absent thumb
OMIM:300514	UBE2T	29089	HP:0001903	Anemia
OMIM:300514	UBE2T	29089	HP:0003468	Abnormality of the vertebrae
OMIM:300514	UBE2T	29089	HP:0003220	Abnormality of chromosome stability
OMIM:300514	UBE2T	29089	HP:0002575	Tracheoesophageal fistula
OMIM:300514	UBE2T	29089	HP:0006525	Lung segmentation defects
OMIM:300514	UBE2T	29089	HP:0001419	X-linked recessive inheritance
OMIM:300514	UBE2T	29089	HP:0000369	Low-set ears
OMIM:300514	UBE2T	29089	HP:0000104	Renal agenesis
OMIM:300514	UBE2T	29089	HP:0003974	Absent radius
OMIM:300514	UBE2T	29089	HP:0001510	Growth delay
OMIM:300514	UBE2T	29089	HP:0002119	Ventriculomegaly
OMIM:300514	FANCE	2178	HP:0009777	Absent thumb
OMIM:300514	FANCE	2178	HP:0001903	Anemia
OMIM:300514	FANCE	2178	HP:0003468	Abnormality of the vertebrae
OMIM:300514	FANCE	2178	HP:0003220	Abnormality of chromosome stability
OMIM:300514	FANCE	2178	HP:0002575	Tracheoesophageal fistula
OMIM:300514	FANCE	2178	HP:0006525	Lung segmentation defects
OMIM:300514	FANCE	2178	HP:0001419	X-linked recessive inheritance
OMIM:300514	FANCE	2178	HP:0000369	Low-set ears
OMIM:300514	FANCE	2178	HP:0000104	Renal agenesis
OMIM:300514	FANCE	2178	HP:0003974	Absent radius
OMIM:300514	FANCE	2178	HP:0001510	Growth delay
OMIM:300514	FANCE	2178	HP:0002119	Ventriculomegaly
OMIM:300514	BRCA2	675	HP:0009777	Absent thumb
OMIM:300514	BRCA2	675	HP:0001903	Anemia
OMIM:300514	BRCA2	675	HP:0003468	Abnormality of the vertebrae
OMIM:300514	BRCA2	675	HP:0003220	Abnormality of chromosome stability
OMIM:300514	BRCA2	675	HP:0002575	Tracheoesophageal fistula
OMIM:300514	BRCA2	675	HP:0006525	Lung segmentation defects
OMIM:300514	BRCA2	675	HP:0001419	X-linked recessive inheritance
OMIM:300514	BRCA2	675	HP:0000369	Low-set ears
OMIM:300514	BRCA2	675	HP:0000104	Renal agenesis
OMIM:300514	BRCA2	675	HP:0003974	Absent radius
OMIM:300514	BRCA2	675	HP:0001510	Growth delay
OMIM:300514	BRCA2	675	HP:0002119	Ventriculomegaly
OMIM:300514	FANCB	2187	HP:0009777	Absent thumb
OMIM:300514	FANCB	2187	HP:0001903	Anemia
OMIM:300514	FANCB	2187	HP:0003468	Abnormality of the vertebrae
OMIM:300514	FANCB	2187	HP:0003220	Abnormality of chromosome stability
OMIM:300514	FANCB	2187	HP:0002575	Tracheoesophageal fistula
OMIM:300514	FANCB	2187	HP:0006525	Lung segmentation defects
OMIM:300514	FANCB	2187	HP:0001419	X-linked recessive inheritance
OMIM:300514	FANCB	2187	HP:0000369	Low-set ears
OMIM:300514	FANCB	2187	HP:0000104	Renal agenesis
OMIM:300514	FANCB	2187	HP:0003974	Absent radius
OMIM:300514	FANCB	2187	HP:0001510	Growth delay
OMIM:300514	FANCB	2187	HP:0002119	Ventriculomegaly
OMIM:300514	FANCF	2188	HP:0009777	Absent thumb
OMIM:300514	FANCF	2188	HP:0001903	Anemia
OMIM:300514	FANCF	2188	HP:0003468	Abnormality of the vertebrae
OMIM:300514	FANCF	2188	HP:0003220	Abnormality of chromosome stability
OMIM:300514	FANCF	2188	HP:0002575	Tracheoesophageal fistula
OMIM:300514	FANCF	2188	HP:0006525	Lung segmentation defects
OMIM:300514	FANCF	2188	HP:0001419	X-linked recessive inheritance
OMIM:300514	FANCF	2188	HP:0000369	Low-set ears
OMIM:300514	FANCF	2188	HP:0000104	Renal agenesis
OMIM:300514	FANCF	2188	HP:0003974	Absent radius
OMIM:300514	FANCF	2188	HP:0001510	Growth delay
OMIM:300514	FANCF	2188	HP:0002119	Ventriculomegaly
OMIM:300514	FANCG	2189	HP:0009777	Absent thumb
OMIM:300514	FANCG	2189	HP:0001903	Anemia
OMIM:300514	FANCG	2189	HP:0003468	Abnormality of the vertebrae
OMIM:300514	FANCG	2189	HP:0003220	Abnormality of chromosome stability
OMIM:300514	FANCG	2189	HP:0002575	Tracheoesophageal fistula
OMIM:300514	FANCG	2189	HP:0006525	Lung segmentation defects
OMIM:300514	FANCG	2189	HP:0001419	X-linked recessive inheritance
OMIM:300514	FANCG	2189	HP:0000369	Low-set ears
OMIM:300514	FANCG	2189	HP:0000104	Renal agenesis
OMIM:300514	FANCG	2189	HP:0003974	Absent radius
OMIM:300514	FANCG	2189	HP:0001510	Growth delay
OMIM:300514	FANCG	2189	HP:0002119	Ventriculomegaly
OMIM:300514	FANCI	55215	HP:0009777	Absent thumb
OMIM:300514	FANCI	55215	HP:0001903	Anemia
OMIM:300514	FANCI	55215	HP:0003468	Abnormality of the vertebrae
OMIM:300514	FANCI	55215	HP:0003220	Abnormality of chromosome stability
OMIM:300514	FANCI	55215	HP:0002575	Tracheoesophageal fistula
OMIM:300514	FANCI	55215	HP:0006525	Lung segmentation defects
OMIM:300514	FANCI	55215	HP:0001419	X-linked recessive inheritance
OMIM:300514	FANCI	55215	HP:0000369	Low-set ears
OMIM:300514	FANCI	55215	HP:0000104	Renal agenesis
OMIM:300514	FANCI	55215	HP:0003974	Absent radius
OMIM:300514	FANCI	55215	HP:0001510	Growth delay
OMIM:300514	FANCI	55215	HP:0002119	Ventriculomegaly
OMIM:300514	FANCL	55120	HP:0009777	Absent thumb
OMIM:300514	FANCL	55120	HP:0001903	Anemia
OMIM:300514	FANCL	55120	HP:0003468	Abnormality of the vertebrae
OMIM:300514	FANCL	55120	HP:0003220	Abnormality of chromosome stability
OMIM:300514	FANCL	55120	HP:0002575	Tracheoesophageal fistula
OMIM:300514	FANCL	55120	HP:0006525	Lung segmentation defects
OMIM:300514	FANCL	55120	HP:0001419	X-linked recessive inheritance
OMIM:300514	FANCL	55120	HP:0000369	Low-set ears
OMIM:300514	FANCL	55120	HP:0000104	Renal agenesis
OMIM:300514	FANCL	55120	HP:0003974	Absent radius
OMIM:300514	FANCL	55120	HP:0001510	Growth delay
OMIM:300514	FANCL	55120	HP:0002119	Ventriculomegaly
OMIM:300514	PALB2	79728	HP:0009777	Absent thumb
OMIM:300514	PALB2	79728	HP:0001903	Anemia
OMIM:300514	PALB2	79728	HP:0003468	Abnormality of the vertebrae
OMIM:300514	PALB2	79728	HP:0003220	Abnormality of chromosome stability
OMIM:300514	PALB2	79728	HP:0002575	Tracheoesophageal fistula
OMIM:300514	PALB2	79728	HP:0006525	Lung segmentation defects
OMIM:300514	PALB2	79728	HP:0001419	X-linked recessive inheritance
OMIM:300514	PALB2	79728	HP:0000369	Low-set ears
OMIM:300514	PALB2	79728	HP:0000104	Renal agenesis
OMIM:300514	PALB2	79728	HP:0003974	Absent radius
OMIM:300514	PALB2	79728	HP:0001510	Growth delay
OMIM:300514	PALB2	79728	HP:0002119	Ventriculomegaly
OMIM:300514	SLX4	84464	HP:0009777	Absent thumb
OMIM:300514	SLX4	84464	HP:0001903	Anemia
OMIM:300514	SLX4	84464	HP:0003468	Abnormality of the vertebrae
OMIM:300514	SLX4	84464	HP:0003220	Abnormality of chromosome stability
OMIM:300514	SLX4	84464	HP:0002575	Tracheoesophageal fistula
OMIM:300514	SLX4	84464	HP:0006525	Lung segmentation defects
OMIM:300514	SLX4	84464	HP:0001419	X-linked recessive inheritance
OMIM:300514	SLX4	84464	HP:0000369	Low-set ears
OMIM:300514	SLX4	84464	HP:0000104	Renal agenesis
OMIM:300514	SLX4	84464	HP:0003974	Absent radius
OMIM:300514	SLX4	84464	HP:0001510	Growth delay
OMIM:300514	SLX4	84464	HP:0002119	Ventriculomegaly
OMIM:300514	BRIP1	83990	HP:0009777	Absent thumb
OMIM:300514	BRIP1	83990	HP:0001903	Anemia
OMIM:300514	BRIP1	83990	HP:0003468	Abnormality of the vertebrae
OMIM:300514	BRIP1	83990	HP:0003220	Abnormality of chromosome stability
OMIM:300514	BRIP1	83990	HP:0002575	Tracheoesophageal fistula
OMIM:300514	BRIP1	83990	HP:0006525	Lung segmentation defects
OMIM:300514	BRIP1	83990	HP:0001419	X-linked recessive inheritance
OMIM:300514	BRIP1	83990	HP:0000369	Low-set ears
OMIM:300514	BRIP1	83990	HP:0000104	Renal agenesis
OMIM:300514	BRIP1	83990	HP:0003974	Absent radius
OMIM:300514	BRIP1	83990	HP:0001510	Growth delay
OMIM:300514	BRIP1	83990	HP:0002119	Ventriculomegaly
OMIM:300514	ERCC4	2072	HP:0009777	Absent thumb
OMIM:300514	ERCC4	2072	HP:0001903	Anemia
OMIM:300514	ERCC4	2072	HP:0003468	Abnormality of the vertebrae
OMIM:300514	ERCC4	2072	HP:0003220	Abnormality of chromosome stability
OMIM:300514	ERCC4	2072	HP:0002575	Tracheoesophageal fistula
OMIM:300514	ERCC4	2072	HP:0006525	Lung segmentation defects
OMIM:300514	ERCC4	2072	HP:0001419	X-linked recessive inheritance
OMIM:300514	ERCC4	2072	HP:0000369	Low-set ears
OMIM:300514	ERCC4	2072	HP:0000104	Renal agenesis
OMIM:300514	ERCC4	2072	HP:0003974	Absent radius
OMIM:300514	ERCC4	2072	HP:0001510	Growth delay
OMIM:300514	ERCC4	2072	HP:0002119	Ventriculomegaly
OMIM:300514	FANCA	2175	HP:0009777	Absent thumb
OMIM:300514	FANCA	2175	HP:0001903	Anemia
OMIM:300514	FANCA	2175	HP:0003468	Abnormality of the vertebrae
OMIM:300514	FANCA	2175	HP:0003220	Abnormality of chromosome stability
OMIM:300514	FANCA	2175	HP:0002575	Tracheoesophageal fistula
OMIM:300514	FANCA	2175	HP:0006525	Lung segmentation defects
OMIM:300514	FANCA	2175	HP:0001419	X-linked recessive inheritance
OMIM:300514	FANCA	2175	HP:0000369	Low-set ears
OMIM:300514	FANCA	2175	HP:0000104	Renal agenesis
OMIM:300514	FANCA	2175	HP:0003974	Absent radius
OMIM:300514	FANCA	2175	HP:0001510	Growth delay
OMIM:300514	FANCA	2175	HP:0002119	Ventriculomegaly
OMIM:615343	CAV1	857	HP:0000006	Autosomal dominant inheritance
OMIM:615343	CAV1	857	HP:0003829	Incomplete penetrance
OMIM:615343	CAV1	857	HP:0002094	Dyspnea
OMIM:271930	NUP62	23636	HP:0001508	Failure to thrive
OMIM:271930	NUP62	23636	HP:0001266	Choreoathetosis
OMIM:271930	NUP62	23636	HP:0012043	Pendular nystagmus
OMIM:271930	NUP62	23636	HP:0001249	Intellectual disability
OMIM:271930	NUP62	23636	HP:0001257	Spasticity
OMIM:271930	NUP62	23636	HP:0001332	Dystonia
OMIM:271930	NUP62	23636	HP:0000007	Autosomal recessive inheritance
OMIM:271930	NUP62	23636	HP:0000648	Optic atrophy
OMIM:271930	NUP62	23636	HP:0002376	Developmental regression
OMIM:271930	NUP62	23636	HP:0002015	Dysphagia
OMIM:271930	ADAR	103	HP:0001508	Failure to thrive
OMIM:271930	ADAR	103	HP:0001266	Choreoathetosis
OMIM:271930	ADAR	103	HP:0012043	Pendular nystagmus
OMIM:271930	ADAR	103	HP:0001249	Intellectual disability
OMIM:271930	ADAR	103	HP:0001257	Spasticity
OMIM:271930	ADAR	103	HP:0001332	Dystonia
OMIM:271930	ADAR	103	HP:0000007	Autosomal recessive inheritance
OMIM:271930	ADAR	103	HP:0000648	Optic atrophy
OMIM:271930	ADAR	103	HP:0002376	Developmental regression
OMIM:271930	ADAR	103	HP:0002015	Dysphagia
OMIM:271930	ATP6	4508	HP:0001508	Failure to thrive
OMIM:271930	ATP6	4508	HP:0001266	Choreoathetosis
OMIM:271930	ATP6	4508	HP:0012043	Pendular nystagmus
OMIM:271930	ATP6	4508	HP:0001249	Intellectual disability
OMIM:271930	ATP6	4508	HP:0001257	Spasticity
OMIM:271930	ATP6	4508	HP:0001332	Dystonia
OMIM:271930	ATP6	4508	HP:0000007	Autosomal recessive inheritance
OMIM:271930	ATP6	4508	HP:0000648	Optic atrophy
OMIM:271930	ATP6	4508	HP:0002376	Developmental regression
OMIM:271930	ATP6	4508	HP:0002015	Dysphagia
OMIM:470000	RPS4Y1	6192	HP:0001450	Y-linked inheritance
OMIM:613618	TBX4	9496	HP:0002673	Coxa valga
OMIM:613618	TBX4	9496	HP:0002916	Abnormality of chromosome segregation
OMIM:613618	TBX4	9496	HP:0001385	Hip dysplasia
OMIM:613618	TBX4	9496	HP:0001883	Talipes
OMIM:613618	TBX4	9496	HP:0000006	Autosomal dominant inheritance
OMIM:613618	TBX4	9496	HP:0008807	Acetabular dysplasia
OMIM:613618	TBX4	9496	HP:0002857	Genu valgum
OMIM:613618	TBX4	9496	HP:0001792	Small nail
OMIM:613618	TBX4	9496	HP:0003272	Abnormality of the hip bone
OMIM:613618	TBX4	9496	HP:0001762	Talipes equinovarus
OMIM:613618	TBX4	9496	HP:0004322	Short stature
OMIM:613618	TBX4	9496	HP:0001800	Hypoplastic toenails
OMIM:610359	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:610359	RLBP1	6017	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:610359	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:610359	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:610359	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	RLBP1	6017	HP:0000505	Visual impairment
OMIM:610359	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:610359	SPATA7	55812	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:610359	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:610359	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:610359	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	SPATA7	55812	HP:0000505	Visual impairment
OMIM:610359	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:610359	ARL6	84100	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:610359	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:610359	ARL6	84100	HP:0000662	Nyctalopia
OMIM:610359	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	ARL6	84100	HP:0000505	Visual impairment
OMIM:610359	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:610359	CERKL	375298	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:610359	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:610359	CERKL	375298	HP:0000662	Nyctalopia
OMIM:610359	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	CERKL	375298	HP:0000505	Visual impairment
OMIM:610359	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:610359	PRPF31	26121	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:610359	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:610359	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:610359	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	PRPF31	26121	HP:0000505	Visual impairment
OMIM:610359	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:610359	TTC8	123016	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:610359	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:610359	TTC8	123016	HP:0000662	Nyctalopia
OMIM:610359	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	TTC8	123016	HP:0000505	Visual impairment
OMIM:610359	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:610359	PROM1	8842	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:610359	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:610359	PROM1	8842	HP:0000662	Nyctalopia
OMIM:610359	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	PROM1	8842	HP:0000505	Visual impairment
OMIM:610359	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:610359	LRAT	9227	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:610359	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:610359	LRAT	9227	HP:0000662	Nyctalopia
OMIM:610359	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	LRAT	9227	HP:0000505	Visual impairment
OMIM:610359	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:610359	IFT140	9742	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:610359	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:610359	IFT140	9742	HP:0000662	Nyctalopia
OMIM:610359	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	IFT140	9742	HP:0000505	Visual impairment
OMIM:610359	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:610359	BEST1	7439	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:610359	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:610359	BEST1	7439	HP:0000662	Nyctalopia
OMIM:610359	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	BEST1	7439	HP:0000505	Visual impairment
OMIM:610359	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:610359	NEK2	4751	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:610359	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:610359	NEK2	4751	HP:0000662	Nyctalopia
OMIM:610359	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	NEK2	4751	HP:0000505	Visual impairment
OMIM:610359	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:610359	ARL2BP	23568	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:610359	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:610359	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:610359	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:610359	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:610359	NR2E3	10002	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:610359	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:610359	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:610359	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	NR2E3	10002	HP:0000505	Visual impairment
OMIM:610359	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:610359	EYS	346007	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:610359	EYS	346007	HP:0000543	Optic disc pallor
OMIM:610359	EYS	346007	HP:0000662	Nyctalopia
OMIM:610359	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	EYS	346007	HP:0000505	Visual impairment
OMIM:610359	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:610359	MAK	4117	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:610359	MAK	4117	HP:0000543	Optic disc pallor
OMIM:610359	MAK	4117	HP:0000662	Nyctalopia
OMIM:610359	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	MAK	4117	HP:0000505	Visual impairment
OMIM:610359	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:610359	SAG	6295	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:610359	SAG	6295	HP:0000543	Optic disc pallor
OMIM:610359	SAG	6295	HP:0000662	Nyctalopia
OMIM:610359	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	SAG	6295	HP:0000505	Visual impairment
OMIM:610359	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:610359	ABCA4	24	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:610359	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:610359	ABCA4	24	HP:0000662	Nyctalopia
OMIM:610359	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	ABCA4	24	HP:0000505	Visual impairment
OMIM:610359	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:610359	PDE6A	5145	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:610359	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:610359	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:610359	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	PDE6A	5145	HP:0000505	Visual impairment
OMIM:610359	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:610359	PDE6G	5148	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:610359	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:610359	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:610359	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	PDE6G	5148	HP:0000505	Visual impairment
OMIM:610359	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:610359	IMPDH1	3614	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:610359	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:610359	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:610359	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:610359	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:610359	OFD1	8481	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:610359	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:610359	OFD1	8481	HP:0000662	Nyctalopia
OMIM:610359	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	OFD1	8481	HP:0000505	Visual impairment
OMIM:610359	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:610359	GUCA1B	2979	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:610359	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:610359	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:610359	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:610359	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:610359	NRL	4901	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:610359	NRL	4901	HP:0000543	Optic disc pallor
OMIM:610359	NRL	4901	HP:0000662	Nyctalopia
OMIM:610359	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	NRL	4901	HP:0000505	Visual impairment
OMIM:610359	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:610359	PDE6B	5158	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:610359	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:610359	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:610359	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	PDE6B	5158	HP:0000505	Visual impairment
OMIM:610359	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:610359	KLHL7	55975	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:610359	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:610359	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:610359	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	KLHL7	55975	HP:0000505	Visual impairment
OMIM:610359	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:610359	PRPF4	9128	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:610359	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:610359	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:610359	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	PRPF4	9128	HP:0000505	Visual impairment
OMIM:610359	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:610359	PRPF3	9129	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:610359	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:610359	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:610359	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	PRPF3	9129	HP:0000505	Visual impairment
OMIM:610359	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:610359	FAM161A	84140	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:610359	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:610359	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:610359	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	FAM161A	84140	HP:0000505	Visual impairment
OMIM:610359	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:610359	IFT172	26160	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:610359	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:610359	IFT172	26160	HP:0000662	Nyctalopia
OMIM:610359	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	IFT172	26160	HP:0000505	Visual impairment
OMIM:610359	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:610359	KIZ	55857	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:610359	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:610359	KIZ	55857	HP:0000662	Nyctalopia
OMIM:610359	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	KIZ	55857	HP:0000505	Visual impairment
OMIM:610359	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:610359	CDHR1	92211	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:610359	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:610359	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:610359	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	CDHR1	92211	HP:0000505	Visual impairment
OMIM:610359	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:610359	ZNF408	79797	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:610359	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:610359	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:610359	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	ZNF408	79797	HP:0000505	Visual impairment
OMIM:610359	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:610359	RBP3	5949	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:610359	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:610359	RBP3	5949	HP:0000662	Nyctalopia
OMIM:610359	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	RBP3	5949	HP:0000505	Visual impairment
OMIM:610359	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:610359	HGSNAT	138050	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:610359	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:610359	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:610359	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:610359	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:610359	FSCN2	25794	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:610359	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:610359	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:610359	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	FSCN2	25794	HP:0000505	Visual impairment
OMIM:610359	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:610359	PRCD	768206	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:610359	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:610359	PRCD	768206	HP:0000662	Nyctalopia
OMIM:610359	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	PRCD	768206	HP:0000505	Visual impairment
OMIM:610359	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:610359	BBS2	583	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:610359	BBS2	583	HP:0000543	Optic disc pallor
OMIM:610359	BBS2	583	HP:0000662	Nyctalopia
OMIM:610359	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	BBS2	583	HP:0000505	Visual impairment
OMIM:610359	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:610359	RDH12	145226	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:610359	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:610359	RDH12	145226	HP:0000662	Nyctalopia
OMIM:610359	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	RDH12	145226	HP:0000505	Visual impairment
OMIM:610359	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:610359	PRPH2	5961	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:610359	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:610359	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:610359	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	PRPH2	5961	HP:0000505	Visual impairment
OMIM:610359	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:610359	DHDDS	79947	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:610359	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:610359	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:610359	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	DHDDS	79947	HP:0000505	Visual impairment
OMIM:610359	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:610359	ROM1	6094	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:610359	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:610359	ROM1	6094	HP:0000662	Nyctalopia
OMIM:610359	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	ROM1	6094	HP:0000505	Visual impairment
OMIM:610359	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:610359	C2ORF71	388939	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:610359	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:610359	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:610359	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:610359	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:610359	RP9	6100	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:610359	RP9	6100	HP:0000543	Optic disc pallor
OMIM:610359	RP9	6100	HP:0000662	Nyctalopia
OMIM:610359	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	RP9	6100	HP:0000505	Visual impairment
OMIM:610359	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:610359	PRPF6	24148	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:610359	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:610359	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:610359	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	PRPF6	24148	HP:0000505	Visual impairment
OMIM:610359	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:610359	RP1	6101	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:610359	RP1	6101	HP:0000543	Optic disc pallor
OMIM:610359	RP1	6101	HP:0000662	Nyctalopia
OMIM:610359	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	RP1	6101	HP:0000505	Visual impairment
OMIM:610359	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:610359	RP2	6102	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:610359	RP2	6102	HP:0000543	Optic disc pallor
OMIM:610359	RP2	6102	HP:0000662	Nyctalopia
OMIM:610359	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	RP2	6102	HP:0000505	Visual impairment
OMIM:610359	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:610359	RPGR	6103	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:610359	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:610359	RPGR	6103	HP:0000662	Nyctalopia
OMIM:610359	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	RPGR	6103	HP:0000505	Visual impairment
OMIM:610359	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:610359	SEMA4A	64218	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:610359	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:610359	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:610359	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:610359	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:610359	C8ORF37	157657	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:610359	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:610359	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:610359	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:610359	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:610359	IDH3B	3420	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:610359	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:610359	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:610359	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	IDH3B	3420	HP:0000505	Visual impairment
OMIM:610359	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:610359	MERTK	10461	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:610359	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:610359	MERTK	10461	HP:0000662	Nyctalopia
OMIM:610359	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	MERTK	10461	HP:0000505	Visual impairment
OMIM:610359	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:610359	PRPF8	10594	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:610359	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:610359	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:610359	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	PRPF8	10594	HP:0000505	Visual impairment
OMIM:610359	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:610359	TOPORS	10210	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:610359	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:610359	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:610359	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	TOPORS	10210	HP:0000505	Visual impairment
OMIM:610359	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:610359	USH2A	7399	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:610359	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:610359	USH2A	7399	HP:0000662	Nyctalopia
OMIM:610359	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	USH2A	7399	HP:0000505	Visual impairment
OMIM:610359	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:610359	RPE65	6121	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:610359	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:610359	RPE65	6121	HP:0000662	Nyctalopia
OMIM:610359	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	RPE65	6121	HP:0000505	Visual impairment
OMIM:610359	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:610359	CLRN1	7401	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:610359	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:610359	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:610359	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	CLRN1	7401	HP:0000505	Visual impairment
OMIM:610359	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:610359	CNGB1	1258	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:610359	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:610359	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:610359	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	CNGB1	1258	HP:0000505	Visual impairment
OMIM:610359	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:610359	RGR	5995	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:610359	RGR	5995	HP:0000543	Optic disc pallor
OMIM:610359	RGR	5995	HP:0000662	Nyctalopia
OMIM:610359	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	RGR	5995	HP:0000505	Visual impairment
OMIM:610359	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:610359	CNGA1	1259	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:610359	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:610359	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:610359	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	CNGA1	1259	HP:0000505	Visual impairment
OMIM:610359	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:610359	TUB	7275	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:610359	TUB	7275	HP:0000543	Optic disc pallor
OMIM:610359	TUB	7275	HP:0000662	Nyctalopia
OMIM:610359	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	TUB	7275	HP:0000505	Visual impairment
OMIM:610359	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:610359	SNRNP200	23020	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:610359	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:610359	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:610359	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:610359	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:610359	SLC7A14	57709	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:610359	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:610359	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:610359	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:610359	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:610359	TULP1	7287	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:610359	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:610359	TULP1	7287	HP:0000662	Nyctalopia
OMIM:610359	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	TULP1	7287	HP:0000505	Visual impairment
OMIM:610359	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:610359	RHO	6010	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:610359	RHO	6010	HP:0000543	Optic disc pallor
OMIM:610359	RHO	6010	HP:0000662	Nyctalopia
OMIM:610359	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	RHO	6010	HP:0000505	Visual impairment
OMIM:610359	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:610359	CA4	762	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:610359	CA4	762	HP:0000543	Optic disc pallor
OMIM:610359	CA4	762	HP:0000662	Nyctalopia
OMIM:610359	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	CA4	762	HP:0000505	Visual impairment
OMIM:610359	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:610359	CRB1	23418	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:610359	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:610359	CRB1	23418	HP:0000662	Nyctalopia
OMIM:610359	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	CRB1	23418	HP:0000505	Visual impairment
OMIM:610359	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:610359	IMPG2	50939	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:610359	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:610359	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:610359	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	IMPG2	50939	HP:0000505	Visual impairment
OMIM:610359	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:610359	ZNF513	130557	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:610359	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:610359	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:610359	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	ZNF513	130557	HP:0000505	Visual impairment
OMIM:610359	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:610359	CRX	1406	HP:0007722	Retinal pigment epithelial atrophy
OMIM:610359	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:610359	CRX	1406	HP:0000543	Optic disc pallor
OMIM:610359	CRX	1406	HP:0000662	Nyctalopia
OMIM:610359	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:610359	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610359	CRX	1406	HP:0000505	Visual impairment
OMIM:607823	SOX18	54345	HP:0000965	Cutis marmorata
OMIM:607823	SOX18	54345	HP:0001597	Abnormality of the nail
OMIM:607823	SOX18	54345	HP:0000478	Abnormality of the eye
OMIM:607823	SOX18	54345	HP:0100539	Periorbital edema
OMIM:607823	SOX18	54345	HP:0000963	Thin skin
OMIM:607823	SOX18	54345	HP:0001596	Alopecia
OMIM:607823	SOX18	54345	HP:0000007	Autosomal recessive inheritance
OMIM:607823	SOX18	54345	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:607823	SOX18	54345	HP:0000164	Abnormality of the teeth
OMIM:607823	SOX18	54345	HP:0001789	Hydrops fetalis
OMIM:607823	SOX18	54345	HP:0005293	Venous insufficiency
OMIM:607823	SOX18	54345	HP:0000006	Autosomal dominant inheritance
OMIM:616421	SLC6A1	6529	HP:0001251	Ataxia
OMIM:616421	SLC6A1	6529	HP:0001337	Tremor
OMIM:616421	SLC6A1	6529	HP:0002121	Absence seizures
OMIM:616421	SLC6A1	6529	HP:0002650	Scoliosis
OMIM:616421	CHD2	1106	HP:0001251	Ataxia
OMIM:616421	CHD2	1106	HP:0001337	Tremor
OMIM:616421	CHD2	1106	HP:0002121	Absence seizures
OMIM:616421	CHD2	1106	HP:0002650	Scoliosis
OMIM:257220	NPC1	4864	HP:0001260	Dysarthria
OMIM:257220	NPC1	4864	HP:0002529	Neuronal loss in central nervous system
OMIM:257220	NPC1	4864	HP:0002240	Hepatomegaly
OMIM:257220	NPC1	4864	HP:0000709	Psychosis
OMIM:257220	NPC1	4864	HP:0006579	Prolonged neonatal jaundice
OMIM:257220	NPC1	4864	HP:0001249	Intellectual disability
OMIM:257220	NPC1	4864	HP:0001251	Ataxia
OMIM:257220	NPC1	4864	HP:0001250	Seizures
OMIM:257220	NPC1	4864	HP:0000726	Dementia
OMIM:257220	NPC1	4864	HP:0002371	Loss of speech
OMIM:257220	NPC1	4864	HP:0002015	Dysphagia
OMIM:257220	NPC1	4864	HP:0001252	Muscular hypotonia
OMIM:257220	NPC1	4864	HP:0001263	Global developmental delay
OMIM:257220	NPC1	4864	HP:0000007	Autosomal recessive inheritance
OMIM:257220	NPC1	4864	HP:0003674	Onset
OMIM:257220	NPC1	4864	HP:0003812	Phenotypic variability
OMIM:257220	NPC1	4864	HP:0001257	Spasticity
OMIM:257220	NPC1	4864	HP:0001332	Dystonia
OMIM:257220	NPC1	4864	HP:0001744	Splenomegaly
OMIM:166600	CLCN7	1186	HP:0000256	Macrocephaly
OMIM:166600	CLCN7	1186	HP:0005930	Abnormality of epiphysis morphology
OMIM:166600	CLCN7	1186	HP:0002754	Osteomyelitis
OMIM:166600	CLCN7	1186	HP:0009882	Short distal phalanx of finger
OMIM:166600	CLCN7	1186	HP:0001373	Joint dislocation
OMIM:166600	CLCN7	1186	HP:0001881	Abnormality of leukocytes
OMIM:166600	CLCN7	1186	HP:0003621	Juvenile onset
OMIM:166600	CLCN7	1186	HP:0000505	Visual impairment
OMIM:166600	CLCN7	1186	HP:0010628	Facial palsy
OMIM:166600	CLCN7	1186	HP:0000944	Abnormality of the metaphyses
OMIM:166600	CLCN7	1186	HP:0002007	Frontal bossing
OMIM:166600	CLCN7	1186	HP:0005528	Bone marrow hypocellularity
OMIM:166600	CLCN7	1186	HP:0002758	Osteoarthritis
OMIM:166600	CLCN7	1186	HP:0000006	Autosomal dominant inheritance
OMIM:166600	CLCN7	1186	HP:0001903	Anemia
OMIM:166600	CLCN7	1186	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:166600	CLCN7	1186	HP:0002857	Genu valgum
OMIM:166600	CLCN7	1186	HP:0004322	Short stature
OMIM:166600	CLCN7	1186	HP:0002901	Hypocalcemia
OMIM:166600	CLCN7	1186	HP:0000365	Hearing impairment
OMIM:166600	CLCN7	1186	HP:0002757	Recurrent fractures
OMIM:166600	CLCN7	1186	HP:0000238	Hydrocephalus
OMIM:166600	CLCN7	1186	HP:0005106	Abnormality of the vertebral endplates
OMIM:166600	CLCN7	1186	HP:0001163	Abnormality of the metacarpal bones
OMIM:166600	CLCN7	1186	HP:0002653	Bone pain
OMIM:166600	CLCN7	1186	HP:0000670	Carious teeth
OMIM:166600	CLCN7	1186	HP:0000648	Optic atrophy
OMIM:181000	HLA-DRB1	3123	HP:0001824	Weight loss
OMIM:181000	HLA-DRB1	3123	HP:0002150	Hypercalciuria
OMIM:181000	HLA-DRB1	3123	HP:0000501	Glaucoma
OMIM:181000	HLA-DRB1	3123	HP:0001945	Fever
OMIM:181000	HLA-DRB1	3123	HP:0002037	Inflammation of the large intestine
OMIM:181000	HLA-DRB1	3123	HP:0000153	Abnormality of the mouth
OMIM:181000	HLA-DRB1	3123	HP:0001369	Arthritis
OMIM:181000	HLA-DRB1	3123	HP:0000613	Photophobia
OMIM:181000	HLA-DRB1	3123	HP:0001138	Optic neuropathy
OMIM:181000	HLA-DRB1	3123	HP:0002094	Dyspnea
OMIM:181000	HLA-DRB1	3123	HP:0001744	Splenomegaly
OMIM:181000	HLA-DRB1	3123	HP:0001876	Pancytopenia
OMIM:181000	HLA-DRB1	3123	HP:0002039	Anorexia
OMIM:181000	HLA-DRB1	3123	HP:0002240	Hepatomegaly
OMIM:181000	HLA-DRB1	3123	HP:0000622	Blurred vision
OMIM:181000	HLA-DRB1	3123	HP:0010702	Increased antibody level in blood
OMIM:181000	BTNL2	56244	HP:0001824	Weight loss
OMIM:181000	BTNL2	56244	HP:0002150	Hypercalciuria
OMIM:181000	BTNL2	56244	HP:0000501	Glaucoma
OMIM:181000	BTNL2	56244	HP:0001945	Fever
OMIM:181000	BTNL2	56244	HP:0002037	Inflammation of the large intestine
OMIM:181000	BTNL2	56244	HP:0000153	Abnormality of the mouth
OMIM:181000	BTNL2	56244	HP:0001369	Arthritis
OMIM:181000	BTNL2	56244	HP:0000613	Photophobia
OMIM:181000	BTNL2	56244	HP:0001138	Optic neuropathy
OMIM:181000	BTNL2	56244	HP:0002094	Dyspnea
OMIM:181000	BTNL2	56244	HP:0001744	Splenomegaly
OMIM:181000	BTNL2	56244	HP:0001876	Pancytopenia
OMIM:181000	BTNL2	56244	HP:0002039	Anorexia
OMIM:181000	BTNL2	56244	HP:0002240	Hepatomegaly
OMIM:181000	BTNL2	56244	HP:0000622	Blurred vision
OMIM:181000	BTNL2	56244	HP:0010702	Increased antibody level in blood
OMIM:106100	SERPING1	710	HP:0002013	Vomiting
OMIM:106100	SERPING1	710	HP:0003477	Peripheral axonal neuropathy
OMIM:106100	SERPING1	710	HP:0002014	Diarrhea
OMIM:106100	SERPING1	710	HP:0001600	Abnormality of the larynx
OMIM:106100	SERPING1	710	HP:0002027	Abdominal pain
OMIM:106100	SERPING1	710	HP:0000006	Autosomal dominant inheritance
OMIM:106100	SERPING1	710	HP:0002960	Autoimmunity
OMIM:612561	TSR2	90121	HP:0001631	Atria septal defect
OMIM:612561	TSR2	90121	HP:0000204	Cleft upper lip
OMIM:612561	TSR2	90121	HP:0000006	Autosomal dominant inheritance
OMIM:612561	TSR2	90121	HP:0001972	Macrocytic anemia
OMIM:612561	TSR2	90121	HP:0000347	Micrognathia
OMIM:612561	TSR2	90121	HP:0001199	Triphalangeal thumb
OMIM:612561	TSR2	90121	HP:0000175	Cleft palate
OMIM:612561	RPS17	6218	HP:0001631	Atria septal defect
OMIM:612561	RPS17	6218	HP:0000204	Cleft upper lip
OMIM:612561	RPS17	6218	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPS17	6218	HP:0001972	Macrocytic anemia
OMIM:612561	RPS17	6218	HP:0000347	Micrognathia
OMIM:612561	RPS17	6218	HP:0001199	Triphalangeal thumb
OMIM:612561	RPS17	6218	HP:0000175	Cleft palate
OMIM:612561	RPL26	6154	HP:0001631	Atria septal defect
OMIM:612561	RPL26	6154	HP:0000204	Cleft upper lip
OMIM:612561	RPL26	6154	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPL26	6154	HP:0001972	Macrocytic anemia
OMIM:612561	RPL26	6154	HP:0000347	Micrognathia
OMIM:612561	RPL26	6154	HP:0001199	Triphalangeal thumb
OMIM:612561	RPL26	6154	HP:0000175	Cleft palate
OMIM:612561	RPL5	6125	HP:0001631	Atria septal defect
OMIM:612561	RPL5	6125	HP:0000204	Cleft upper lip
OMIM:612561	RPL5	6125	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPL5	6125	HP:0001972	Macrocytic anemia
OMIM:612561	RPL5	6125	HP:0000347	Micrognathia
OMIM:612561	RPL5	6125	HP:0001199	Triphalangeal thumb
OMIM:612561	RPL5	6125	HP:0000175	Cleft palate
OMIM:612561	RPS19	6223	HP:0001631	Atria septal defect
OMIM:612561	RPS19	6223	HP:0000204	Cleft upper lip
OMIM:612561	RPS19	6223	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPS19	6223	HP:0001972	Macrocytic anemia
OMIM:612561	RPS19	6223	HP:0000347	Micrognathia
OMIM:612561	RPS19	6223	HP:0001199	Triphalangeal thumb
OMIM:612561	RPS19	6223	HP:0000175	Cleft palate
OMIM:612561	RPS24	6229	HP:0001631	Atria septal defect
OMIM:612561	RPS24	6229	HP:0000204	Cleft upper lip
OMIM:612561	RPS24	6229	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPS24	6229	HP:0001972	Macrocytic anemia
OMIM:612561	RPS24	6229	HP:0000347	Micrognathia
OMIM:612561	RPS24	6229	HP:0001199	Triphalangeal thumb
OMIM:612561	RPS24	6229	HP:0000175	Cleft palate
OMIM:612561	RPL35A	6165	HP:0001631	Atria septal defect
OMIM:612561	RPL35A	6165	HP:0000204	Cleft upper lip
OMIM:612561	RPL35A	6165	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPL35A	6165	HP:0001972	Macrocytic anemia
OMIM:612561	RPL35A	6165	HP:0000347	Micrognathia
OMIM:612561	RPL35A	6165	HP:0001199	Triphalangeal thumb
OMIM:612561	RPL35A	6165	HP:0000175	Cleft palate
OMIM:612561	RPL11	6135	HP:0001631	Atria septal defect
OMIM:612561	RPL11	6135	HP:0000204	Cleft upper lip
OMIM:612561	RPL11	6135	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPL11	6135	HP:0001972	Macrocytic anemia
OMIM:612561	RPL11	6135	HP:0000347	Micrognathia
OMIM:612561	RPL11	6135	HP:0001199	Triphalangeal thumb
OMIM:612561	RPL11	6135	HP:0000175	Cleft palate
OMIM:612561	RPS26	6231	HP:0001631	Atria septal defect
OMIM:612561	RPS26	6231	HP:0000204	Cleft upper lip
OMIM:612561	RPS26	6231	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPS26	6231	HP:0001972	Macrocytic anemia
OMIM:612561	RPS26	6231	HP:0000347	Micrognathia
OMIM:612561	RPS26	6231	HP:0001199	Triphalangeal thumb
OMIM:612561	RPS26	6231	HP:0000175	Cleft palate
OMIM:612561	RPS7	6201	HP:0001631	Atria septal defect
OMIM:612561	RPS7	6201	HP:0000204	Cleft upper lip
OMIM:612561	RPS7	6201	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPS7	6201	HP:0001972	Macrocytic anemia
OMIM:612561	RPS7	6201	HP:0000347	Micrognathia
OMIM:612561	RPS7	6201	HP:0001199	Triphalangeal thumb
OMIM:612561	RPS7	6201	HP:0000175	Cleft palate
OMIM:612561	RPL15	6138	HP:0001631	Atria septal defect
OMIM:612561	RPL15	6138	HP:0000204	Cleft upper lip
OMIM:612561	RPL15	6138	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPL15	6138	HP:0001972	Macrocytic anemia
OMIM:612561	RPL15	6138	HP:0000347	Micrognathia
OMIM:612561	RPL15	6138	HP:0001199	Triphalangeal thumb
OMIM:612561	RPL15	6138	HP:0000175	Cleft palate
OMIM:612561	RPS28	6234	HP:0001631	Atria septal defect
OMIM:612561	RPS28	6234	HP:0000204	Cleft upper lip
OMIM:612561	RPS28	6234	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPS28	6234	HP:0001972	Macrocytic anemia
OMIM:612561	RPS28	6234	HP:0000347	Micrognathia
OMIM:612561	RPS28	6234	HP:0001199	Triphalangeal thumb
OMIM:612561	RPS28	6234	HP:0000175	Cleft palate
OMIM:612561	RPS29	6235	HP:0001631	Atria septal defect
OMIM:612561	RPS29	6235	HP:0000204	Cleft upper lip
OMIM:612561	RPS29	6235	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPS29	6235	HP:0001972	Macrocytic anemia
OMIM:612561	RPS29	6235	HP:0000347	Micrognathia
OMIM:612561	RPS29	6235	HP:0001199	Triphalangeal thumb
OMIM:612561	RPS29	6235	HP:0000175	Cleft palate
OMIM:612561	RPS10	6204	HP:0001631	Atria septal defect
OMIM:612561	RPS10	6204	HP:0000204	Cleft upper lip
OMIM:612561	RPS10	6204	HP:0000006	Autosomal dominant inheritance
OMIM:612561	RPS10	6204	HP:0001972	Macrocytic anemia
OMIM:612561	RPS10	6204	HP:0000347	Micrognathia
OMIM:612561	RPS10	6204	HP:0001199	Triphalangeal thumb
OMIM:612561	RPS10	6204	HP:0000175	Cleft palate
OMIM:612561	GATA1	2623	HP:0001631	Atria septal defect
OMIM:612561	GATA1	2623	HP:0000204	Cleft upper lip
OMIM:612561	GATA1	2623	HP:0000006	Autosomal dominant inheritance
OMIM:612561	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:612561	GATA1	2623	HP:0000347	Micrognathia
OMIM:612561	GATA1	2623	HP:0001199	Triphalangeal thumb
OMIM:612561	GATA1	2623	HP:0000175	Cleft palate
OMIM:603956	FGFR3	2261	HP:0003319	Abnormality of the cervical spine
OMIM:603956	FGFR3	2261	HP:0002664	Neoplasm
OMIM:171300	VHL	7428	HP:0000093	Proteinuria
OMIM:171300	VHL	7428	HP:0000975	Hyperhidrosis
OMIM:171300	VHL	7428	HP:0001028	Hemangioma
OMIM:171300	VHL	7428	HP:0001649	Tachycardia
OMIM:171300	VHL	7428	HP:0000519	Congenital cataract
OMIM:171300	VHL	7428	HP:0002664	Neoplasm
OMIM:171300	VHL	7428	HP:0000006	Autosomal dominant inheritance
OMIM:171300	VHL	7428	HP:0001920	Renal artery stenosis
OMIM:171300	VHL	7428	HP:0001635	Congestive heart failure
OMIM:171300	VHL	7428	HP:0003072	Hypercalcemia
OMIM:171300	VHL	7428	HP:0000957	Cafe-au-lait spot
OMIM:171300	SDHA	6389	HP:0000093	Proteinuria
OMIM:171300	SDHA	6389	HP:0000975	Hyperhidrosis
OMIM:171300	SDHA	6389	HP:0001028	Hemangioma
OMIM:171300	SDHA	6389	HP:0001649	Tachycardia
OMIM:171300	SDHA	6389	HP:0000519	Congenital cataract
OMIM:171300	SDHA	6389	HP:0002664	Neoplasm
OMIM:171300	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:171300	SDHA	6389	HP:0001920	Renal artery stenosis
OMIM:171300	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:171300	SDHA	6389	HP:0003072	Hypercalcemia
OMIM:171300	SDHA	6389	HP:0000957	Cafe-au-lait spot
OMIM:171300	SDHAF2	54949	HP:0000093	Proteinuria
OMIM:171300	SDHAF2	54949	HP:0000975	Hyperhidrosis
OMIM:171300	SDHAF2	54949	HP:0001028	Hemangioma
OMIM:171300	SDHAF2	54949	HP:0001649	Tachycardia
OMIM:171300	SDHAF2	54949	HP:0000519	Congenital cataract
OMIM:171300	SDHAF2	54949	HP:0002664	Neoplasm
OMIM:171300	SDHAF2	54949	HP:0000006	Autosomal dominant inheritance
OMIM:171300	SDHAF2	54949	HP:0001920	Renal artery stenosis
OMIM:171300	SDHAF2	54949	HP:0001635	Congestive heart failure
OMIM:171300	SDHAF2	54949	HP:0003072	Hypercalcemia
OMIM:171300	SDHAF2	54949	HP:0000957	Cafe-au-lait spot
OMIM:171300	MAX	4149	HP:0000093	Proteinuria
OMIM:171300	MAX	4149	HP:0000975	Hyperhidrosis
OMIM:171300	MAX	4149	HP:0001028	Hemangioma
OMIM:171300	MAX	4149	HP:0001649	Tachycardia
OMIM:171300	MAX	4149	HP:0000519	Congenital cataract
OMIM:171300	MAX	4149	HP:0002664	Neoplasm
OMIM:171300	MAX	4149	HP:0000006	Autosomal dominant inheritance
OMIM:171300	MAX	4149	HP:0001920	Renal artery stenosis
OMIM:171300	MAX	4149	HP:0001635	Congestive heart failure
OMIM:171300	MAX	4149	HP:0003072	Hypercalcemia
OMIM:171300	MAX	4149	HP:0000957	Cafe-au-lait spot
OMIM:171300	SDHB	6390	HP:0000093	Proteinuria
OMIM:171300	SDHB	6390	HP:0000975	Hyperhidrosis
OMIM:171300	SDHB	6390	HP:0001028	Hemangioma
OMIM:171300	SDHB	6390	HP:0001649	Tachycardia
OMIM:171300	SDHB	6390	HP:0000519	Congenital cataract
OMIM:171300	SDHB	6390	HP:0002664	Neoplasm
OMIM:171300	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:171300	SDHB	6390	HP:0001920	Renal artery stenosis
OMIM:171300	SDHB	6390	HP:0001635	Congestive heart failure
OMIM:171300	SDHB	6390	HP:0003072	Hypercalcemia
OMIM:171300	SDHB	6390	HP:0000957	Cafe-au-lait spot
OMIM:171300	TMEM127	55654	HP:0000093	Proteinuria
OMIM:171300	TMEM127	55654	HP:0000975	Hyperhidrosis
OMIM:171300	TMEM127	55654	HP:0001028	Hemangioma
OMIM:171300	TMEM127	55654	HP:0001649	Tachycardia
OMIM:171300	TMEM127	55654	HP:0000519	Congenital cataract
OMIM:171300	TMEM127	55654	HP:0002664	Neoplasm
OMIM:171300	TMEM127	55654	HP:0000006	Autosomal dominant inheritance
OMIM:171300	TMEM127	55654	HP:0001920	Renal artery stenosis
OMIM:171300	TMEM127	55654	HP:0001635	Congestive heart failure
OMIM:171300	TMEM127	55654	HP:0003072	Hypercalcemia
OMIM:171300	TMEM127	55654	HP:0000957	Cafe-au-lait spot
OMIM:171300	KIF1B	23095	HP:0000093	Proteinuria
OMIM:171300	KIF1B	23095	HP:0000975	Hyperhidrosis
OMIM:171300	KIF1B	23095	HP:0001028	Hemangioma
OMIM:171300	KIF1B	23095	HP:0001649	Tachycardia
OMIM:171300	KIF1B	23095	HP:0000519	Congenital cataract
OMIM:171300	KIF1B	23095	HP:0002664	Neoplasm
OMIM:171300	KIF1B	23095	HP:0000006	Autosomal dominant inheritance
OMIM:171300	KIF1B	23095	HP:0001920	Renal artery stenosis
OMIM:171300	KIF1B	23095	HP:0001635	Congestive heart failure
OMIM:171300	KIF1B	23095	HP:0003072	Hypercalcemia
OMIM:171300	KIF1B	23095	HP:0000957	Cafe-au-lait spot
OMIM:171300	SDHC	6391	HP:0000093	Proteinuria
OMIM:171300	SDHC	6391	HP:0000975	Hyperhidrosis
OMIM:171300	SDHC	6391	HP:0001028	Hemangioma
OMIM:171300	SDHC	6391	HP:0001649	Tachycardia
OMIM:171300	SDHC	6391	HP:0000519	Congenital cataract
OMIM:171300	SDHC	6391	HP:0002664	Neoplasm
OMIM:171300	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:171300	SDHC	6391	HP:0001920	Renal artery stenosis
OMIM:171300	SDHC	6391	HP:0001635	Congestive heart failure
OMIM:171300	SDHC	6391	HP:0003072	Hypercalcemia
OMIM:171300	SDHC	6391	HP:0000957	Cafe-au-lait spot
OMIM:171300	SDHD	6392	HP:0000093	Proteinuria
OMIM:171300	SDHD	6392	HP:0000975	Hyperhidrosis
OMIM:171300	SDHD	6392	HP:0001028	Hemangioma
OMIM:171300	SDHD	6392	HP:0001649	Tachycardia
OMIM:171300	SDHD	6392	HP:0000519	Congenital cataract
OMIM:171300	SDHD	6392	HP:0002664	Neoplasm
OMIM:171300	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:171300	SDHD	6392	HP:0001920	Renal artery stenosis
OMIM:171300	SDHD	6392	HP:0001635	Congestive heart failure
OMIM:171300	SDHD	6392	HP:0003072	Hypercalcemia
OMIM:171300	SDHD	6392	HP:0000957	Cafe-au-lait spot
OMIM:171300	RET	5979	HP:0000093	Proteinuria
OMIM:171300	RET	5979	HP:0000975	Hyperhidrosis
OMIM:171300	RET	5979	HP:0001028	Hemangioma
OMIM:171300	RET	5979	HP:0001649	Tachycardia
OMIM:171300	RET	5979	HP:0000519	Congenital cataract
OMIM:171300	RET	5979	HP:0002664	Neoplasm
OMIM:171300	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:171300	RET	5979	HP:0001920	Renal artery stenosis
OMIM:171300	RET	5979	HP:0001635	Congestive heart failure
OMIM:171300	RET	5979	HP:0003072	Hypercalcemia
OMIM:171300	RET	5979	HP:0000957	Cafe-au-lait spot
OMIM:171300	FH	2271	HP:0000093	Proteinuria
OMIM:171300	FH	2271	HP:0000975	Hyperhidrosis
OMIM:171300	FH	2271	HP:0001028	Hemangioma
OMIM:171300	FH	2271	HP:0001649	Tachycardia
OMIM:171300	FH	2271	HP:0000519	Congenital cataract
OMIM:171300	FH	2271	HP:0002664	Neoplasm
OMIM:171300	FH	2271	HP:0000006	Autosomal dominant inheritance
OMIM:171300	FH	2271	HP:0001920	Renal artery stenosis
OMIM:171300	FH	2271	HP:0001635	Congestive heart failure
OMIM:171300	FH	2271	HP:0003072	Hypercalcemia
OMIM:171300	FH	2271	HP:0000957	Cafe-au-lait spot
OMIM:613155	POMT2	29954	HP:0003741	Congenital muscular dystrophy
OMIM:613155	POMT2	29954	HP:0003593	Infantile onset
OMIM:613155	POMT2	29954	HP:0000252	Microcephaly
OMIM:613155	POMT2	29954	HP:0001263	Global developmental delay
OMIM:613155	POMT2	29954	HP:0001371	Flexion contracture
OMIM:613155	POMT2	29954	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613155	POMT2	29954	HP:0000545	Myopia
OMIM:613155	POMT2	29954	HP:0001344	Absent speech
OMIM:613155	POMT2	29954	HP:0010864	Intellectual disability, severe
OMIM:613155	POMT2	29954	HP:0000158	Macroglossia
OMIM:613155	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613155	POMT2	29954	HP:0007033	Cerebellar dysplasia
OMIM:613155	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:613155	POMT2	29954	HP:0000519	Congenital cataract
OMIM:613155	POMT2	29954	HP:0000556	Retinal dystrophy
OMIM:613155	POMT2	29954	HP:0010628	Facial palsy
OMIM:613155	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:613155	POMT2	29954	HP:0002540	Inability to walk
OMIM:613155	POMT2	29954	HP:0001638	Cardiomyopathy
OMIM:613155	GMPPB	29925	HP:0003741	Congenital muscular dystrophy
OMIM:613155	GMPPB	29925	HP:0003593	Infantile onset
OMIM:613155	GMPPB	29925	HP:0000252	Microcephaly
OMIM:613155	GMPPB	29925	HP:0001263	Global developmental delay
OMIM:613155	GMPPB	29925	HP:0001371	Flexion contracture
OMIM:613155	GMPPB	29925	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613155	GMPPB	29925	HP:0000545	Myopia
OMIM:613155	GMPPB	29925	HP:0001344	Absent speech
OMIM:613155	GMPPB	29925	HP:0010864	Intellectual disability, severe
OMIM:613155	GMPPB	29925	HP:0000158	Macroglossia
OMIM:613155	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613155	GMPPB	29925	HP:0007033	Cerebellar dysplasia
OMIM:613155	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:613155	GMPPB	29925	HP:0000519	Congenital cataract
OMIM:613155	GMPPB	29925	HP:0000556	Retinal dystrophy
OMIM:613155	GMPPB	29925	HP:0010628	Facial palsy
OMIM:613155	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:613155	GMPPB	29925	HP:0002540	Inability to walk
OMIM:613155	GMPPB	29925	HP:0001638	Cardiomyopathy
OMIM:613155	POMGNT1	55624	HP:0003741	Congenital muscular dystrophy
OMIM:613155	POMGNT1	55624	HP:0003593	Infantile onset
OMIM:613155	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:613155	POMGNT1	55624	HP:0001263	Global developmental delay
OMIM:613155	POMGNT1	55624	HP:0001371	Flexion contracture
OMIM:613155	POMGNT1	55624	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613155	POMGNT1	55624	HP:0000545	Myopia
OMIM:613155	POMGNT1	55624	HP:0001344	Absent speech
OMIM:613155	POMGNT1	55624	HP:0010864	Intellectual disability, severe
OMIM:613155	POMGNT1	55624	HP:0000158	Macroglossia
OMIM:613155	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613155	POMGNT1	55624	HP:0007033	Cerebellar dysplasia
OMIM:613155	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:613155	POMGNT1	55624	HP:0000519	Congenital cataract
OMIM:613155	POMGNT1	55624	HP:0000556	Retinal dystrophy
OMIM:613155	POMGNT1	55624	HP:0010628	Facial palsy
OMIM:613155	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:613155	POMGNT1	55624	HP:0002540	Inability to walk
OMIM:613155	POMGNT1	55624	HP:0001638	Cardiomyopathy
OMIM:613155	POMT1	10585	HP:0003741	Congenital muscular dystrophy
OMIM:613155	POMT1	10585	HP:0003593	Infantile onset
OMIM:613155	POMT1	10585	HP:0000252	Microcephaly
OMIM:613155	POMT1	10585	HP:0001263	Global developmental delay
OMIM:613155	POMT1	10585	HP:0001371	Flexion contracture
OMIM:613155	POMT1	10585	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613155	POMT1	10585	HP:0000545	Myopia
OMIM:613155	POMT1	10585	HP:0001344	Absent speech
OMIM:613155	POMT1	10585	HP:0010864	Intellectual disability, severe
OMIM:613155	POMT1	10585	HP:0000158	Macroglossia
OMIM:613155	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613155	POMT1	10585	HP:0007033	Cerebellar dysplasia
OMIM:613155	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:613155	POMT1	10585	HP:0000519	Congenital cataract
OMIM:613155	POMT1	10585	HP:0000556	Retinal dystrophy
OMIM:613155	POMT1	10585	HP:0010628	Facial palsy
OMIM:613155	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:613155	POMT1	10585	HP:0002540	Inability to walk
OMIM:613155	POMT1	10585	HP:0001638	Cardiomyopathy
OMIM:613155	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:613155	FKRP	79147	HP:0003593	Infantile onset
OMIM:613155	FKRP	79147	HP:0000252	Microcephaly
OMIM:613155	FKRP	79147	HP:0001263	Global developmental delay
OMIM:613155	FKRP	79147	HP:0001371	Flexion contracture
OMIM:613155	FKRP	79147	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613155	FKRP	79147	HP:0000545	Myopia
OMIM:613155	FKRP	79147	HP:0001344	Absent speech
OMIM:613155	FKRP	79147	HP:0010864	Intellectual disability, severe
OMIM:613155	FKRP	79147	HP:0000158	Macroglossia
OMIM:613155	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613155	FKRP	79147	HP:0007033	Cerebellar dysplasia
OMIM:613155	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:613155	FKRP	79147	HP:0000519	Congenital cataract
OMIM:613155	FKRP	79147	HP:0000556	Retinal dystrophy
OMIM:613155	FKRP	79147	HP:0010628	Facial palsy
OMIM:613155	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:613155	FKRP	79147	HP:0002540	Inability to walk
OMIM:613155	FKRP	79147	HP:0001638	Cardiomyopathy
OMIM:613155	LARGE	9215	HP:0003741	Congenital muscular dystrophy
OMIM:613155	LARGE	9215	HP:0003593	Infantile onset
OMIM:613155	LARGE	9215	HP:0000252	Microcephaly
OMIM:613155	LARGE	9215	HP:0001263	Global developmental delay
OMIM:613155	LARGE	9215	HP:0001371	Flexion contracture
OMIM:613155	LARGE	9215	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613155	LARGE	9215	HP:0000545	Myopia
OMIM:613155	LARGE	9215	HP:0001344	Absent speech
OMIM:613155	LARGE	9215	HP:0010864	Intellectual disability, severe
OMIM:613155	LARGE	9215	HP:0000158	Macroglossia
OMIM:613155	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613155	LARGE	9215	HP:0007033	Cerebellar dysplasia
OMIM:613155	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:613155	LARGE	9215	HP:0000519	Congenital cataract
OMIM:613155	LARGE	9215	HP:0000556	Retinal dystrophy
OMIM:613155	LARGE	9215	HP:0010628	Facial palsy
OMIM:613155	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:613155	LARGE	9215	HP:0002540	Inability to walk
OMIM:613155	LARGE	9215	HP:0001638	Cardiomyopathy
OMIM:153550	RPS14	6208	HP:0001428	Somatic mutation
OMIM:153550	RPS14	6208	HP:0003745	Sporadic
OMIM:153550	RPS14	6208	HP:0002863	Myelodysplasia
OMIM:242680	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:242680	DNAAF2	55172	HP:0006536	Obstructive lung disease
OMIM:242680	DNAAF2	55172	HP:0002837	Recurrent bronchitis
OMIM:242680	DNAAF2	55172	HP:0012263	Immotile cilia
OMIM:242680	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:242680	CCNO	10309	HP:0000246	Sinusitis
OMIM:242680	CCNO	10309	HP:0006536	Obstructive lung disease
OMIM:242680	CCNO	10309	HP:0002837	Recurrent bronchitis
OMIM:242680	CCNO	10309	HP:0012263	Immotile cilia
OMIM:242680	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:242680	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:242680	DNAAF5	54919	HP:0006536	Obstructive lung disease
OMIM:242680	DNAAF5	54919	HP:0002837	Recurrent bronchitis
OMIM:242680	DNAAF5	54919	HP:0012263	Immotile cilia
OMIM:242680	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:242680	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:242680	DNAAF3	352909	HP:0006536	Obstructive lung disease
OMIM:242680	DNAAF3	352909	HP:0002837	Recurrent bronchitis
OMIM:242680	DNAAF3	352909	HP:0012263	Immotile cilia
OMIM:242680	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:242680	DNAI1	27019	HP:0000246	Sinusitis
OMIM:242680	DNAI1	27019	HP:0006536	Obstructive lung disease
OMIM:242680	DNAI1	27019	HP:0002837	Recurrent bronchitis
OMIM:242680	DNAI1	27019	HP:0012263	Immotile cilia
OMIM:242680	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:242680	DRC1	92749	HP:0000246	Sinusitis
OMIM:242680	DRC1	92749	HP:0006536	Obstructive lung disease
OMIM:242680	DRC1	92749	HP:0002837	Recurrent bronchitis
OMIM:242680	DRC1	92749	HP:0012263	Immotile cilia
OMIM:242680	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:242680	SPAG1	6674	HP:0000246	Sinusitis
OMIM:242680	SPAG1	6674	HP:0006536	Obstructive lung disease
OMIM:242680	SPAG1	6674	HP:0002837	Recurrent bronchitis
OMIM:242680	SPAG1	6674	HP:0012263	Immotile cilia
OMIM:242680	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:242680	RSPH3	83861	HP:0000246	Sinusitis
OMIM:242680	RSPH3	83861	HP:0006536	Obstructive lung disease
OMIM:242680	RSPH3	83861	HP:0002837	Recurrent bronchitis
OMIM:242680	RSPH3	83861	HP:0012263	Immotile cilia
OMIM:242680	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:242680	RPGR	6103	HP:0000246	Sinusitis
OMIM:242680	RPGR	6103	HP:0006536	Obstructive lung disease
OMIM:242680	RPGR	6103	HP:0002837	Recurrent bronchitis
OMIM:242680	RPGR	6103	HP:0012263	Immotile cilia
OMIM:242680	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:242680	LRRC6	23639	HP:0000246	Sinusitis
OMIM:242680	LRRC6	23639	HP:0006536	Obstructive lung disease
OMIM:242680	LRRC6	23639	HP:0002837	Recurrent bronchitis
OMIM:242680	LRRC6	23639	HP:0012263	Immotile cilia
OMIM:242680	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:242680	DNAL1	83544	HP:0000246	Sinusitis
OMIM:242680	DNAL1	83544	HP:0006536	Obstructive lung disease
OMIM:242680	DNAL1	83544	HP:0002837	Recurrent bronchitis
OMIM:242680	DNAL1	83544	HP:0012263	Immotile cilia
OMIM:242680	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:242680	ARMC4	55130	HP:0000246	Sinusitis
OMIM:242680	ARMC4	55130	HP:0006536	Obstructive lung disease
OMIM:242680	ARMC4	55130	HP:0002837	Recurrent bronchitis
OMIM:242680	ARMC4	55130	HP:0012263	Immotile cilia
OMIM:242680	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:242680	CCDC103	388389	HP:0000246	Sinusitis
OMIM:242680	CCDC103	388389	HP:0006536	Obstructive lung disease
OMIM:242680	CCDC103	388389	HP:0002837	Recurrent bronchitis
OMIM:242680	CCDC103	388389	HP:0012263	Immotile cilia
OMIM:242680	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:242680	OFD1	8481	HP:0000246	Sinusitis
OMIM:242680	OFD1	8481	HP:0006536	Obstructive lung disease
OMIM:242680	OFD1	8481	HP:0002837	Recurrent bronchitis
OMIM:242680	OFD1	8481	HP:0012263	Immotile cilia
OMIM:242680	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:242680	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:242680	DNAAF1	123872	HP:0006536	Obstructive lung disease
OMIM:242680	DNAAF1	123872	HP:0002837	Recurrent bronchitis
OMIM:242680	DNAAF1	123872	HP:0012263	Immotile cilia
OMIM:242680	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:242680	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:242680	RSPH4A	345895	HP:0006536	Obstructive lung disease
OMIM:242680	RSPH4A	345895	HP:0002837	Recurrent bronchitis
OMIM:242680	RSPH4A	345895	HP:0012263	Immotile cilia
OMIM:242680	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:242680	RSPH1	89765	HP:0000246	Sinusitis
OMIM:242680	RSPH1	89765	HP:0006536	Obstructive lung disease
OMIM:242680	RSPH1	89765	HP:0002837	Recurrent bronchitis
OMIM:242680	RSPH1	89765	HP:0012263	Immotile cilia
OMIM:242680	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:242680	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:242680	ZMYND10	51364	HP:0006536	Obstructive lung disease
OMIM:242680	ZMYND10	51364	HP:0002837	Recurrent bronchitis
OMIM:242680	ZMYND10	51364	HP:0012263	Immotile cilia
OMIM:242680	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:242680	DNAH5	1767	HP:0000246	Sinusitis
OMIM:242680	DNAH5	1767	HP:0006536	Obstructive lung disease
OMIM:242680	DNAH5	1767	HP:0002837	Recurrent bronchitis
OMIM:242680	DNAH5	1767	HP:0012263	Immotile cilia
OMIM:242680	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:242680	CCDC65	85478	HP:0000246	Sinusitis
OMIM:242680	CCDC65	85478	HP:0006536	Obstructive lung disease
OMIM:242680	CCDC65	85478	HP:0002837	Recurrent bronchitis
OMIM:242680	CCDC65	85478	HP:0012263	Immotile cilia
OMIM:242680	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:242680	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:242680	C21ORF59	56683	HP:0006536	Obstructive lung disease
OMIM:242680	C21ORF59	56683	HP:0002837	Recurrent bronchitis
OMIM:242680	C21ORF59	56683	HP:0012263	Immotile cilia
OMIM:242680	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:242680	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:242680	DYX1C1	161582	HP:0006536	Obstructive lung disease
OMIM:242680	DYX1C1	161582	HP:0002837	Recurrent bronchitis
OMIM:242680	DYX1C1	161582	HP:0012263	Immotile cilia
OMIM:242680	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:242680	CCDC151	115948	HP:0000246	Sinusitis
OMIM:242680	CCDC151	115948	HP:0006536	Obstructive lung disease
OMIM:242680	CCDC151	115948	HP:0002837	Recurrent bronchitis
OMIM:242680	CCDC151	115948	HP:0012263	Immotile cilia
OMIM:242680	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:242680	RSPH9	221421	HP:0000246	Sinusitis
OMIM:242680	RSPH9	221421	HP:0006536	Obstructive lung disease
OMIM:242680	RSPH9	221421	HP:0002837	Recurrent bronchitis
OMIM:242680	RSPH9	221421	HP:0012263	Immotile cilia
OMIM:242680	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:242680	CCDC39	339829	HP:0000246	Sinusitis
OMIM:242680	CCDC39	339829	HP:0006536	Obstructive lung disease
OMIM:242680	CCDC39	339829	HP:0002837	Recurrent bronchitis
OMIM:242680	CCDC39	339829	HP:0012263	Immotile cilia
OMIM:242680	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:242680	HYDIN	54768	HP:0000246	Sinusitis
OMIM:242680	HYDIN	54768	HP:0006536	Obstructive lung disease
OMIM:242680	HYDIN	54768	HP:0002837	Recurrent bronchitis
OMIM:242680	HYDIN	54768	HP:0012263	Immotile cilia
OMIM:242680	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:242680	CCDC114	93233	HP:0000246	Sinusitis
OMIM:242680	CCDC114	93233	HP:0006536	Obstructive lung disease
OMIM:242680	CCDC114	93233	HP:0002837	Recurrent bronchitis
OMIM:242680	CCDC114	93233	HP:0012263	Immotile cilia
OMIM:242680	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:242680	NME8	51314	HP:0000246	Sinusitis
OMIM:242680	NME8	51314	HP:0006536	Obstructive lung disease
OMIM:242680	NME8	51314	HP:0002837	Recurrent bronchitis
OMIM:242680	NME8	51314	HP:0012263	Immotile cilia
OMIM:242680	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:242680	CCDC40	55036	HP:0000246	Sinusitis
OMIM:242680	CCDC40	55036	HP:0006536	Obstructive lung disease
OMIM:242680	CCDC40	55036	HP:0002837	Recurrent bronchitis
OMIM:242680	CCDC40	55036	HP:0012263	Immotile cilia
OMIM:242680	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:242680	DNAH11	8701	HP:0000246	Sinusitis
OMIM:242680	DNAH11	8701	HP:0006536	Obstructive lung disease
OMIM:242680	DNAH11	8701	HP:0002837	Recurrent bronchitis
OMIM:242680	DNAH11	8701	HP:0012263	Immotile cilia
OMIM:242680	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:242680	DNAI2	64446	HP:0000246	Sinusitis
OMIM:242680	DNAI2	64446	HP:0006536	Obstructive lung disease
OMIM:242680	DNAI2	64446	HP:0002837	Recurrent bronchitis
OMIM:242680	DNAI2	64446	HP:0012263	Immotile cilia
OMIM:242680	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:242680	GAS8	2622	HP:0000246	Sinusitis
OMIM:242680	GAS8	2622	HP:0006536	Obstructive lung disease
OMIM:242680	GAS8	2622	HP:0002837	Recurrent bronchitis
OMIM:242680	GAS8	2622	HP:0012263	Immotile cilia
OMIM:242680	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:610381	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	AIPL1	23746	HP:0000006	Autosomal dominant inheritance
OMIM:610381	AIPL1	23746	HP:0000613	Photophobia
OMIM:610381	AIPL1	23746	HP:0011504	Bull's eye maculopathy
OMIM:610381	AIPL1	23746	HP:0007401	Macular atrophy
OMIM:610381	AIPL1	23746	HP:0000608	Macular degeneration
OMIM:610381	AIPL1	23746	HP:0007924	Slow decrease in visual acuity
OMIM:610381	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	PITPNM3	83394	HP:0000006	Autosomal dominant inheritance
OMIM:610381	PITPNM3	83394	HP:0000613	Photophobia
OMIM:610381	PITPNM3	83394	HP:0011504	Bull's eye maculopathy
OMIM:610381	PITPNM3	83394	HP:0007401	Macular atrophy
OMIM:610381	PITPNM3	83394	HP:0000608	Macular degeneration
OMIM:610381	PITPNM3	83394	HP:0007924	Slow decrease in visual acuity
OMIM:610381	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	OPN1LW	5956	HP:0000006	Autosomal dominant inheritance
OMIM:610381	OPN1LW	5956	HP:0000613	Photophobia
OMIM:610381	OPN1LW	5956	HP:0011504	Bull's eye maculopathy
OMIM:610381	OPN1LW	5956	HP:0007401	Macular atrophy
OMIM:610381	OPN1LW	5956	HP:0000608	Macular degeneration
OMIM:610381	OPN1LW	5956	HP:0007924	Slow decrease in visual acuity
OMIM:610381	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	UNC119	9094	HP:0000006	Autosomal dominant inheritance
OMIM:610381	UNC119	9094	HP:0000613	Photophobia
OMIM:610381	UNC119	9094	HP:0011504	Bull's eye maculopathy
OMIM:610381	UNC119	9094	HP:0007401	Macular atrophy
OMIM:610381	UNC119	9094	HP:0000608	Macular degeneration
OMIM:610381	UNC119	9094	HP:0007924	Slow decrease in visual acuity
OMIM:610381	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	RPGRIP1	57096	HP:0000006	Autosomal dominant inheritance
OMIM:610381	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:610381	RPGRIP1	57096	HP:0011504	Bull's eye maculopathy
OMIM:610381	RPGRIP1	57096	HP:0007401	Macular atrophy
OMIM:610381	RPGRIP1	57096	HP:0000608	Macular degeneration
OMIM:610381	RPGRIP1	57096	HP:0007924	Slow decrease in visual acuity
OMIM:610381	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:610381	PRPH2	5961	HP:0000613	Photophobia
OMIM:610381	PRPH2	5961	HP:0011504	Bull's eye maculopathy
OMIM:610381	PRPH2	5961	HP:0007401	Macular atrophy
OMIM:610381	PRPH2	5961	HP:0000608	Macular degeneration
OMIM:610381	PRPH2	5961	HP:0007924	Slow decrease in visual acuity
OMIM:610381	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	CACNA1F	778	HP:0000006	Autosomal dominant inheritance
OMIM:610381	CACNA1F	778	HP:0000613	Photophobia
OMIM:610381	CACNA1F	778	HP:0011504	Bull's eye maculopathy
OMIM:610381	CACNA1F	778	HP:0007401	Macular atrophy
OMIM:610381	CACNA1F	778	HP:0000608	Macular degeneration
OMIM:610381	CACNA1F	778	HP:0007924	Slow decrease in visual acuity
OMIM:610381	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:610381	PROM1	8842	HP:0000613	Photophobia
OMIM:610381	PROM1	8842	HP:0011504	Bull's eye maculopathy
OMIM:610381	PROM1	8842	HP:0007401	Macular atrophy
OMIM:610381	PROM1	8842	HP:0000608	Macular degeneration
OMIM:610381	PROM1	8842	HP:0007924	Slow decrease in visual acuity
OMIM:610381	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	DRAM2	128338	HP:0000006	Autosomal dominant inheritance
OMIM:610381	DRAM2	128338	HP:0000613	Photophobia
OMIM:610381	DRAM2	128338	HP:0011504	Bull's eye maculopathy
OMIM:610381	DRAM2	128338	HP:0007401	Macular atrophy
OMIM:610381	DRAM2	128338	HP:0000608	Macular degeneration
OMIM:610381	DRAM2	128338	HP:0007924	Slow decrease in visual acuity
OMIM:610381	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	CACNA2D4	93589	HP:0000006	Autosomal dominant inheritance
OMIM:610381	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:610381	CACNA2D4	93589	HP:0011504	Bull's eye maculopathy
OMIM:610381	CACNA2D4	93589	HP:0007401	Macular atrophy
OMIM:610381	CACNA2D4	93589	HP:0000608	Macular degeneration
OMIM:610381	CACNA2D4	93589	HP:0007924	Slow decrease in visual acuity
OMIM:610381	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	RAB28	9364	HP:0000006	Autosomal dominant inheritance
OMIM:610381	RAB28	9364	HP:0000613	Photophobia
OMIM:610381	RAB28	9364	HP:0011504	Bull's eye maculopathy
OMIM:610381	RAB28	9364	HP:0007401	Macular atrophy
OMIM:610381	RAB28	9364	HP:0000608	Macular degeneration
OMIM:610381	RAB28	9364	HP:0007924	Slow decrease in visual acuity
OMIM:610381	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	RIMS1	22999	HP:0000006	Autosomal dominant inheritance
OMIM:610381	RIMS1	22999	HP:0000613	Photophobia
OMIM:610381	RIMS1	22999	HP:0011504	Bull's eye maculopathy
OMIM:610381	RIMS1	22999	HP:0007401	Macular atrophy
OMIM:610381	RIMS1	22999	HP:0000608	Macular degeneration
OMIM:610381	RIMS1	22999	HP:0007924	Slow decrease in visual acuity
OMIM:610381	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:610381	RPGR	6103	HP:0000613	Photophobia
OMIM:610381	RPGR	6103	HP:0011504	Bull's eye maculopathy
OMIM:610381	RPGR	6103	HP:0007401	Macular atrophy
OMIM:610381	RPGR	6103	HP:0000608	Macular degeneration
OMIM:610381	RPGR	6103	HP:0007924	Slow decrease in visual acuity
OMIM:610381	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:610381	ABCA4	24	HP:0000613	Photophobia
OMIM:610381	ABCA4	24	HP:0011504	Bull's eye maculopathy
OMIM:610381	ABCA4	24	HP:0007401	Macular atrophy
OMIM:610381	ABCA4	24	HP:0000608	Macular degeneration
OMIM:610381	ABCA4	24	HP:0007924	Slow decrease in visual acuity
OMIM:610381	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:610381	SEMA4A	64218	HP:0000613	Photophobia
OMIM:610381	SEMA4A	64218	HP:0011504	Bull's eye maculopathy
OMIM:610381	SEMA4A	64218	HP:0007401	Macular atrophy
OMIM:610381	SEMA4A	64218	HP:0000608	Macular degeneration
OMIM:610381	SEMA4A	64218	HP:0007924	Slow decrease in visual acuity
OMIM:610381	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:610381	C8ORF37	157657	HP:0000613	Photophobia
OMIM:610381	C8ORF37	157657	HP:0011504	Bull's eye maculopathy
OMIM:610381	C8ORF37	157657	HP:0007401	Macular atrophy
OMIM:610381	C8ORF37	157657	HP:0000608	Macular degeneration
OMIM:610381	C8ORF37	157657	HP:0007924	Slow decrease in visual acuity
OMIM:610381	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	OPN1MW	2652	HP:0000006	Autosomal dominant inheritance
OMIM:610381	OPN1MW	2652	HP:0000613	Photophobia
OMIM:610381	OPN1MW	2652	HP:0011504	Bull's eye maculopathy
OMIM:610381	OPN1MW	2652	HP:0007401	Macular atrophy
OMIM:610381	OPN1MW	2652	HP:0000608	Macular degeneration
OMIM:610381	OPN1MW	2652	HP:0007924	Slow decrease in visual acuity
OMIM:610381	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	GUCA1A	2978	HP:0000006	Autosomal dominant inheritance
OMIM:610381	GUCA1A	2978	HP:0000613	Photophobia
OMIM:610381	GUCA1A	2978	HP:0011504	Bull's eye maculopathy
OMIM:610381	GUCA1A	2978	HP:0007401	Macular atrophy
OMIM:610381	GUCA1A	2978	HP:0000608	Macular degeneration
OMIM:610381	GUCA1A	2978	HP:0007924	Slow decrease in visual acuity
OMIM:610381	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	RAX2	84839	HP:0000006	Autosomal dominant inheritance
OMIM:610381	RAX2	84839	HP:0000613	Photophobia
OMIM:610381	RAX2	84839	HP:0011504	Bull's eye maculopathy
OMIM:610381	RAX2	84839	HP:0007401	Macular atrophy
OMIM:610381	RAX2	84839	HP:0000608	Macular degeneration
OMIM:610381	RAX2	84839	HP:0007924	Slow decrease in visual acuity
OMIM:610381	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	CNGA3	1261	HP:0000006	Autosomal dominant inheritance
OMIM:610381	CNGA3	1261	HP:0000613	Photophobia
OMIM:610381	CNGA3	1261	HP:0011504	Bull's eye maculopathy
OMIM:610381	CNGA3	1261	HP:0007401	Macular atrophy
OMIM:610381	CNGA3	1261	HP:0000608	Macular degeneration
OMIM:610381	CNGA3	1261	HP:0007924	Slow decrease in visual acuity
OMIM:610381	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	ADAM9	8754	HP:0000006	Autosomal dominant inheritance
OMIM:610381	ADAM9	8754	HP:0000613	Photophobia
OMIM:610381	ADAM9	8754	HP:0011504	Bull's eye maculopathy
OMIM:610381	ADAM9	8754	HP:0007401	Macular atrophy
OMIM:610381	ADAM9	8754	HP:0000608	Macular degeneration
OMIM:610381	ADAM9	8754	HP:0007924	Slow decrease in visual acuity
OMIM:610381	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:610381	CDHR1	92211	HP:0000613	Photophobia
OMIM:610381	CDHR1	92211	HP:0011504	Bull's eye maculopathy
OMIM:610381	CDHR1	92211	HP:0007401	Macular atrophy
OMIM:610381	CDHR1	92211	HP:0000608	Macular degeneration
OMIM:610381	CDHR1	92211	HP:0007924	Slow decrease in visual acuity
OMIM:610381	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	TTLL5	23093	HP:0000006	Autosomal dominant inheritance
OMIM:610381	TTLL5	23093	HP:0000613	Photophobia
OMIM:610381	TTLL5	23093	HP:0011504	Bull's eye maculopathy
OMIM:610381	TTLL5	23093	HP:0007401	Macular atrophy
OMIM:610381	TTLL5	23093	HP:0000608	Macular degeneration
OMIM:610381	TTLL5	23093	HP:0007924	Slow decrease in visual acuity
OMIM:610381	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:610381	GUCY2D	3000	HP:0000613	Photophobia
OMIM:610381	GUCY2D	3000	HP:0011504	Bull's eye maculopathy
OMIM:610381	GUCY2D	3000	HP:0007401	Macular atrophy
OMIM:610381	GUCY2D	3000	HP:0000608	Macular degeneration
OMIM:610381	GUCY2D	3000	HP:0007924	Slow decrease in visual acuity
OMIM:610381	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	POC1B	282809	HP:0000006	Autosomal dominant inheritance
OMIM:610381	POC1B	282809	HP:0000613	Photophobia
OMIM:610381	POC1B	282809	HP:0011504	Bull's eye maculopathy
OMIM:610381	POC1B	282809	HP:0007401	Macular atrophy
OMIM:610381	POC1B	282809	HP:0000608	Macular degeneration
OMIM:610381	POC1B	282809	HP:0007924	Slow decrease in visual acuity
OMIM:610381	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:610381	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:610381	CRX	1406	HP:0000613	Photophobia
OMIM:610381	CRX	1406	HP:0011504	Bull's eye maculopathy
OMIM:610381	CRX	1406	HP:0007401	Macular atrophy
OMIM:610381	CRX	1406	HP:0000608	Macular degeneration
OMIM:610381	CRX	1406	HP:0007924	Slow decrease in visual acuity
OMIM:615911	CHCHD10	400916	HP:0001265	Hyporeflexia
OMIM:615911	CHCHD10	400916	HP:0001251	Ataxia
OMIM:615911	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615911	CHCHD10	400916	HP:0003487	Babinski sign
OMIM:615911	CHCHD10	400916	HP:0001283	Bulbar palsy
OMIM:615911	CHCHD10	400916	HP:0000407	Sensorineural hearing impairment
OMIM:615911	CHCHD10	400916	HP:0003701	Proximal muscle weakness
OMIM:615911	CHCHD10	400916	HP:0002120	Cerebral cortical atrophy
OMIM:615911	CHCHD10	400916	HP:0001284	Areflexia
OMIM:615911	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:615911	CHCHD10	400916	HP:0001300	Parkinsonism
OMIM:615911	CHCHD10	400916	HP:0002015	Dysphagia
OMIM:615911	CHCHD10	400916	HP:0000508	Ptosis
OMIM:615911	TBK1	29110	HP:0001265	Hyporeflexia
OMIM:615911	TBK1	29110	HP:0001251	Ataxia
OMIM:615911	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615911	TBK1	29110	HP:0003487	Babinski sign
OMIM:615911	TBK1	29110	HP:0001283	Bulbar palsy
OMIM:615911	TBK1	29110	HP:0000407	Sensorineural hearing impairment
OMIM:615911	TBK1	29110	HP:0003701	Proximal muscle weakness
OMIM:615911	TBK1	29110	HP:0002120	Cerebral cortical atrophy
OMIM:615911	TBK1	29110	HP:0001284	Areflexia
OMIM:615911	TBK1	29110	HP:0001260	Dysarthria
OMIM:615911	TBK1	29110	HP:0001300	Parkinsonism
OMIM:615911	TBK1	29110	HP:0002015	Dysphagia
OMIM:615911	TBK1	29110	HP:0000508	Ptosis
OMIM:615911	VCP	7415	HP:0001265	Hyporeflexia
OMIM:615911	VCP	7415	HP:0001251	Ataxia
OMIM:615911	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615911	VCP	7415	HP:0003487	Babinski sign
OMIM:615911	VCP	7415	HP:0001283	Bulbar palsy
OMIM:615911	VCP	7415	HP:0000407	Sensorineural hearing impairment
OMIM:615911	VCP	7415	HP:0003701	Proximal muscle weakness
OMIM:615911	VCP	7415	HP:0002120	Cerebral cortical atrophy
OMIM:615911	VCP	7415	HP:0001284	Areflexia
OMIM:615911	VCP	7415	HP:0001260	Dysarthria
OMIM:615911	VCP	7415	HP:0001300	Parkinsonism
OMIM:615911	VCP	7415	HP:0002015	Dysphagia
OMIM:615911	VCP	7415	HP:0000508	Ptosis
OMIM:615911	FUS	2521	HP:0001265	Hyporeflexia
OMIM:615911	FUS	2521	HP:0001251	Ataxia
OMIM:615911	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615911	FUS	2521	HP:0003487	Babinski sign
OMIM:615911	FUS	2521	HP:0001283	Bulbar palsy
OMIM:615911	FUS	2521	HP:0000407	Sensorineural hearing impairment
OMIM:615911	FUS	2521	HP:0003701	Proximal muscle weakness
OMIM:615911	FUS	2521	HP:0002120	Cerebral cortical atrophy
OMIM:615911	FUS	2521	HP:0001284	Areflexia
OMIM:615911	FUS	2521	HP:0001260	Dysarthria
OMIM:615911	FUS	2521	HP:0001300	Parkinsonism
OMIM:615911	FUS	2521	HP:0002015	Dysphagia
OMIM:615911	FUS	2521	HP:0000508	Ptosis
OMIM:615911	TARDBP	23435	HP:0001265	Hyporeflexia
OMIM:615911	TARDBP	23435	HP:0001251	Ataxia
OMIM:615911	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615911	TARDBP	23435	HP:0003487	Babinski sign
OMIM:615911	TARDBP	23435	HP:0001283	Bulbar palsy
OMIM:615911	TARDBP	23435	HP:0000407	Sensorineural hearing impairment
OMIM:615911	TARDBP	23435	HP:0003701	Proximal muscle weakness
OMIM:615911	TARDBP	23435	HP:0002120	Cerebral cortical atrophy
OMIM:615911	TARDBP	23435	HP:0001284	Areflexia
OMIM:615911	TARDBP	23435	HP:0001260	Dysarthria
OMIM:615911	TARDBP	23435	HP:0001300	Parkinsonism
OMIM:615911	TARDBP	23435	HP:0002015	Dysphagia
OMIM:615911	TARDBP	23435	HP:0000508	Ptosis
OMIM:615911	SQSTM1	8878	HP:0001265	Hyporeflexia
OMIM:615911	SQSTM1	8878	HP:0001251	Ataxia
OMIM:615911	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615911	SQSTM1	8878	HP:0003487	Babinski sign
OMIM:615911	SQSTM1	8878	HP:0001283	Bulbar palsy
OMIM:615911	SQSTM1	8878	HP:0000407	Sensorineural hearing impairment
OMIM:615911	SQSTM1	8878	HP:0003701	Proximal muscle weakness
OMIM:615911	SQSTM1	8878	HP:0002120	Cerebral cortical atrophy
OMIM:615911	SQSTM1	8878	HP:0001284	Areflexia
OMIM:615911	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:615911	SQSTM1	8878	HP:0001300	Parkinsonism
OMIM:615911	SQSTM1	8878	HP:0002015	Dysphagia
OMIM:615911	SQSTM1	8878	HP:0000508	Ptosis
OMIM:615911	C9ORF72	203228	HP:0001265	Hyporeflexia
OMIM:615911	C9ORF72	203228	HP:0001251	Ataxia
OMIM:615911	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:615911	C9ORF72	203228	HP:0003487	Babinski sign
OMIM:615911	C9ORF72	203228	HP:0001283	Bulbar palsy
OMIM:615911	C9ORF72	203228	HP:0000407	Sensorineural hearing impairment
OMIM:615911	C9ORF72	203228	HP:0003701	Proximal muscle weakness
OMIM:615911	C9ORF72	203228	HP:0002120	Cerebral cortical atrophy
OMIM:615911	C9ORF72	203228	HP:0001284	Areflexia
OMIM:615911	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:615911	C9ORF72	203228	HP:0001300	Parkinsonism
OMIM:615911	C9ORF72	203228	HP:0002015	Dysphagia
OMIM:615911	C9ORF72	203228	HP:0000508	Ptosis
OMIM:277440	VDR	7421	HP:0002982	Tibial bowing
OMIM:277440	VDR	7421	HP:0000951	Abnormality of the skin
OMIM:277440	VDR	7421	HP:0002007	Frontal bossing
OMIM:277440	VDR	7421	HP:0000737	Irritability
OMIM:277440	VDR	7421	HP:0002979	Bowing of the legs
OMIM:277440	VDR	7421	HP:0001252	Muscular hypotonia
OMIM:277440	VDR	7421	HP:0003593	Infantile onset
OMIM:277440	VDR	7421	HP:0002757	Recurrent fractures
OMIM:277440	VDR	7421	HP:0002980	Femoral bowing
OMIM:277440	VDR	7421	HP:0002663	Delayed epiphyseal ossification
OMIM:277440	VDR	7421	HP:0000007	Autosomal recessive inheritance
OMIM:277440	VDR	7421	HP:0001508	Failure to thrive
OMIM:277440	VDR	7421	HP:0003025	Metaphyseal irregularity
OMIM:277440	VDR	7421	HP:0000684	Delayed eruption of teeth
OMIM:277440	VDR	7421	HP:0006297	Hypoplasia of dental enamel
OMIM:277440	VDR	7421	HP:0002148	Hypophosphatemia
OMIM:277440	VDR	7421	HP:0001270	Motor delay
OMIM:277440	VDR	7421	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:277440	VDR	7421	HP:0001510	Growth delay
OMIM:277440	VDR	7421	HP:0001538	Protuberant abdomen
OMIM:277440	VDR	7421	HP:0002653	Bone pain
OMIM:277440	VDR	7421	HP:0005469	Flat occiput
OMIM:277440	VDR	7421	HP:0004492	Widely patent fontanelles and sutures
OMIM:277440	VDR	7421	HP:0002355	Difficulty walking
OMIM:277440	VDR	7421	HP:0000670	Carious teeth
OMIM:614962	LEP	3952	HP:0000054	Micropenis
OMIM:614962	LEP	3952	HP:0000135	Hypogonadism
OMIM:614962	LEP	3952	HP:0008734	Decreased testicular size
OMIM:614962	LEP	3952	HP:0000786	Primary amenorrhea
OMIM:614962	LEP	3952	HP:0002788	Recurrent upper respiratory tract infections
OMIM:614962	LEP	3952	HP:0006532	Recurrent pneumonia
OMIM:614962	LEP	3952	HP:0001513	Obesity
ORPHANET:85193	WNT3A	89780	HP:0002808	Kyphosis
ORPHANET:85193	WNT3A	89780	HP:0002653	Bone pain
ORPHANET:85193	WNT3A	89780	HP:0004349	Reduced bone mineral density
ORPHANET:85193	WNT3A	89780	HP:0002757	Recurrent fractures
ORPHANET:85193	WNT3A	89780	HP:0001288	Gait disturbance
ORPHANET:85193	LRP5	4041	HP:0002808	Kyphosis
ORPHANET:85193	LRP5	4041	HP:0002653	Bone pain
ORPHANET:85193	LRP5	4041	HP:0004349	Reduced bone mineral density
ORPHANET:85193	LRP5	4041	HP:0002757	Recurrent fractures
ORPHANET:85193	LRP5	4041	HP:0001288	Gait disturbance
ORPHANET:85193	DKK1	22943	HP:0002808	Kyphosis
ORPHANET:85193	DKK1	22943	HP:0002653	Bone pain
ORPHANET:85193	DKK1	22943	HP:0004349	Reduced bone mineral density
ORPHANET:85193	DKK1	22943	HP:0002757	Recurrent fractures
ORPHANET:85193	DKK1	22943	HP:0001288	Gait disturbance
ORPHANET:85193	WNT1	7471	HP:0002808	Kyphosis
ORPHANET:85193	WNT1	7471	HP:0002653	Bone pain
ORPHANET:85193	WNT1	7471	HP:0004349	Reduced bone mineral density
ORPHANET:85193	WNT1	7471	HP:0002757	Recurrent fractures
ORPHANET:85193	WNT1	7471	HP:0001288	Gait disturbance
OMIM:305620	FLNA	2316	HP:0001674	Complete atrioventricular canal defect
OMIM:305620	FLNA	2316	HP:0001600	Abnormality of the larynx
OMIM:305620	FLNA	2316	HP:0000795	Abnormality of the urethra
OMIM:305620	FLNA	2316	HP:0000336	Prominent supraorbital ridges
OMIM:305620	FLNA	2316	HP:0001166	Arachnodactyly
OMIM:305620	FLNA	2316	HP:0000494	Downslanted palpebral fissures
OMIM:305620	FLNA	2316	HP:0000689	Dental malocclusion
OMIM:305620	FLNA	2316	HP:0001363	Craniosynostosis
OMIM:305620	FLNA	2316	HP:0001376	Limitation of joint mobility
OMIM:305620	FLNA	2316	HP:0005048	Synostosis of carpal bones
OMIM:305620	FLNA	2316	HP:0001007	Hirsutism
OMIM:305620	FLNA	2316	HP:0000218	High palate
OMIM:305620	FLNA	2316	HP:0000407	Sensorineural hearing impairment
OMIM:305620	FLNA	2316	HP:0003312	Abnormal form of the vertebral bodies
OMIM:305620	FLNA	2316	HP:0002949	Fused cervical vertebrae
OMIM:305620	FLNA	2316	HP:0006487	Bowing of the long bones
OMIM:305620	FLNA	2316	HP:0000405	Conductive hearing impairment
OMIM:305620	FLNA	2316	HP:0002777	Tracheal stenosis
OMIM:305620	FLNA	2316	HP:0003691	Scapular winging
OMIM:305620	FLNA	2316	HP:0002700	Large foramen magnum
OMIM:305620	FLNA	2316	HP:0000280	Coarse facial features
OMIM:305620	FLNA	2316	HP:0002987	Elbow flexion contracture
OMIM:305620	FLNA	2316	HP:0006335	Persistence of primary teeth
OMIM:305620	FLNA	2316	HP:0006380	Knee flexion contracture
OMIM:305620	FLNA	2316	HP:0000944	Abnormality of the metaphyses
OMIM:305620	FLNA	2316	HP:0006466	Ankle contracture
OMIM:305620	FLNA	2316	HP:0002650	Scoliosis
OMIM:305620	FLNA	2316	HP:0003202	Skeletal muscle atrophy
OMIM:305620	FLNA	2316	HP:0000126	Hydronephrosis
OMIM:305620	FLNA	2316	HP:0000316	Hypertelorism
OMIM:305620	FLNA	2316	HP:0001249	Intellectual disability
OMIM:305620	FLNA	2316	HP:0001833	Long foot
OMIM:305620	FLNA	2316	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:305620	FLNA	2316	HP:0000307	Pointed chin
OMIM:305620	FLNA	2316	HP:0009768	Broad phalanges of the hand
OMIM:305620	FLNA	2316	HP:0005616	Accelerated skeletal maturation
OMIM:305620	FLNA	2316	HP:0009465	Ulnar deviation of finger
OMIM:305620	FLNA	2316	HP:0100490	Camptodactyly of finger
OMIM:305620	FLNA	2316	HP:0000331	Short chin
OMIM:305620	FLNA	2316	HP:0006482	Abnormality of dental morphology
OMIM:305620	FLNA	2316	HP:0003042	Elbow dislocation
OMIM:305620	FLNA	2316	HP:0004493	Craniofacial hyperostosis
OMIM:305620	FLNA	2316	HP:0000072	Hydroureter
OMIM:305620	FLNA	2316	HP:0000174	Abnormality of the palate
OMIM:305620	FLNA	2316	HP:0000347	Micrognathia
OMIM:305620	FLNA	2316	HP:0002857	Genu valgum
OMIM:305620	FLNA	2316	HP:0001419	X-linked recessive inheritance
OMIM:305620	FLNA	2316	HP:0002673	Coxa valga
OMIM:305620	FLNA	2316	HP:0001634	Mitral valve prolapse
OMIM:305620	FLNA	2316	HP:0001592	Selective tooth agenesis
OMIM:305620	FLNA	2316	HP:0000684	Delayed eruption of teeth
OMIM:305620	FLNA	2316	HP:0000431	Wide nasal bridge
ORPHANET:90348	FBLN5	10516	HP:0004299	Hernia of the abdominal wall
ORPHANET:90348	FBLN5	10516	HP:0000316	Hypertelorism
ORPHANET:90348	FBLN5	10516	HP:0000293	Full cheeks
ORPHANET:90348	FBLN5	10516	HP:0002097	Emphysema
ORPHANET:90348	FBLN5	10516	HP:0001646	Abnormality of the aortic valve
ORPHANET:90348	FBLN5	10516	HP:0009124	Abnormality of adipose tissue
ORPHANET:90348	FBLN5	10516	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:90348	FBLN5	10516	HP:0005222	Bowel diverticulosis
ORPHANET:90348	FBLN5	10516	HP:0007495	Prematurely aged appearance
ORPHANET:90348	FBLN5	10516	HP:0000973	Cutis laxa
ORPHANET:90348	FBLN5	10516	HP:0001382	Joint hypermobility
ORPHANET:90348	ELN	2006	HP:0004299	Hernia of the abdominal wall
ORPHANET:90348	ELN	2006	HP:0000316	Hypertelorism
ORPHANET:90348	ELN	2006	HP:0000293	Full cheeks
ORPHANET:90348	ELN	2006	HP:0002097	Emphysema
ORPHANET:90348	ELN	2006	HP:0001646	Abnormality of the aortic valve
ORPHANET:90348	ELN	2006	HP:0009124	Abnormality of adipose tissue
ORPHANET:90348	ELN	2006	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:90348	ELN	2006	HP:0005222	Bowel diverticulosis
ORPHANET:90348	ELN	2006	HP:0007495	Prematurely aged appearance
ORPHANET:90348	ELN	2006	HP:0000973	Cutis laxa
ORPHANET:90348	ELN	2006	HP:0001382	Joint hypermobility
ORPHANET:90348	ALDH18A1	5832	HP:0004299	Hernia of the abdominal wall
ORPHANET:90348	ALDH18A1	5832	HP:0000316	Hypertelorism
ORPHANET:90348	ALDH18A1	5832	HP:0000293	Full cheeks
ORPHANET:90348	ALDH18A1	5832	HP:0002097	Emphysema
ORPHANET:90348	ALDH18A1	5832	HP:0001646	Abnormality of the aortic valve
ORPHANET:90348	ALDH18A1	5832	HP:0009124	Abnormality of adipose tissue
ORPHANET:90348	ALDH18A1	5832	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:90348	ALDH18A1	5832	HP:0005222	Bowel diverticulosis
ORPHANET:90348	ALDH18A1	5832	HP:0007495	Prematurely aged appearance
ORPHANET:90348	ALDH18A1	5832	HP:0000973	Cutis laxa
ORPHANET:90348	ALDH18A1	5832	HP:0001382	Joint hypermobility
OMIM:127300	SHOX	6473	HP:0002648	Abnormality of calvarial morphology
OMIM:127300	SHOX	6473	HP:0005736	Short tibia
OMIM:127300	SHOX	6473	HP:0003067	Madelung deformity
OMIM:127300	SHOX	6473	HP:0004322	Short stature
OMIM:127300	SHOX	6473	HP:0003063	Abnormality of the humerus
OMIM:127300	SHOX	6473	HP:0001831	Short toe
OMIM:127300	SHOX	6473	HP:0001156	Brachydactyly syndrome
OMIM:127300	SHOX	6473	HP:0002857	Genu valgum
OMIM:127300	SHOX	6473	HP:0003272	Abnormality of the hip bone
OMIM:127300	SHOX	6473	HP:0010624	Aplastic/hypoplastic toenail
OMIM:127300	SHOX	6473	HP:0002996	Limited elbow movement
OMIM:127300	SHOX	6473	HP:0002992	Abnormality of the tibia
OMIM:127300	SHOX	6473	HP:0005280	Depressed nasal bridge
OMIM:127300	SHOX	6473	HP:0001376	Limitation of joint mobility
OMIM:127300	SHOX	6473	HP:0003038	Fibular hypoplasia
OMIM:127300	SHOX	6473	HP:0002653	Bone pain
OMIM:127300	SHOX	6473	HP:0010579	Cone-shaped epiphysis
OMIM:127300	SHOX	6473	HP:0000006	Autosomal dominant inheritance
OMIM:127300	SHOX	6473	HP:0006443	Patellar aplasia
OMIM:127300	SHOX	6473	HP:0002997	Abnormality of the ulna
OMIM:127300	SHOX	6473	HP:0008873	Disproportionate short-limb short stature
OMIM:127300	SHOX	6473	HP:0002983	Micromelia
OMIM:127300	SHOX	6473	HP:0100777	Exostoses
OMIM:127300	SHOX	6473	HP:0002673	Coxa valga
OMIM:127300	SHOX	6473	HP:0000944	Abnormality of the metaphyses
OMIM:127300	SHOX	6473	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:127300	SHOX	6473	HP:0004209	Clinodactyly of the 5th finger
OMIM:127300	SHOX	6473	HP:0000218	High palate
OMIM:127300	SHOX	6473	HP:0002823	Abnormality of the femur
OMIM:127300	SHOX	6473	HP:0002982	Tibial bowing
OMIM:127300	SHOX	6473	HP:0002758	Osteoarthritis
OMIM:127300	SHOX	6473	HP:0002986	Radial bowing
OMIM:127300	SHOX	6473	HP:0003712	Skeletal muscle hypertrophy
OMIM:127300	SHOX	6473	HP:0002650	Scoliosis
OMIM:127300	SHOX	6473	HP:0002970	Genu varum
OMIM:127300	SHOX	6473	HP:0002829	Arthralgia
OMIM:127300	SHOX	6473	HP:0003022	Hypoplasia of the ulna
OMIM:127300	SHOX	6473	HP:0001191	Abnormality of the carpal bones
OMIM:127300	SHOX	6473	HP:0006248	Limited wrist movement
OMIM:127300	SHOX	6473	HP:0001798	Anonychia
OMIM:127300	SHOX	6473	HP:0001832	Abnormality of the metatarsal bones
OMIM:127300	SHOX	6473	HP:0000112	Nephropathy
OMIM:127300	SHOX	6473	HP:0002984	Hypoplasia of the radius
OMIM:127300	SHOX	6473	HP:0003042	Elbow dislocation
OMIM:127300	SHOX	6473	HP:0001163	Abnormality of the metacarpal bones
OMIM:613148	IL10	3586	HP:0000007	Autosomal recessive inheritance
OMIM:613148	IL10	3586	HP:0004387	Enterocolitis
OMIM:613148	IL10	3586	HP:0002573	Hematochezia
OMIM:613148	IL10RA	3587	HP:0000007	Autosomal recessive inheritance
OMIM:613148	IL10RA	3587	HP:0004387	Enterocolitis
OMIM:613148	IL10RA	3587	HP:0002573	Hematochezia
OMIM:613148	IL10RB	3588	HP:0000007	Autosomal recessive inheritance
OMIM:613148	IL10RB	3588	HP:0004387	Enterocolitis
OMIM:613148	IL10RB	3588	HP:0002573	Hematochezia
OMIM:613148	IL21	59067	HP:0000007	Autosomal recessive inheritance
OMIM:613148	IL21	59067	HP:0004387	Enterocolitis
OMIM:613148	IL21	59067	HP:0002573	Hematochezia
OMIM:309580	ATRX	546	HP:0003272	Abnormality of the hip bone
OMIM:309580	ATRX	546	HP:0000341	Narrow forehead
OMIM:309580	ATRX	546	HP:0000508	Ptosis
OMIM:309580	ATRX	546	HP:0001156	Brachydactyly syndrome
OMIM:309580	ATRX	546	HP:0002020	Gastroesophageal reflux
OMIM:309580	ATRX	546	HP:0000046	Scrotal hypoplasia
OMIM:309580	ATRX	546	HP:0005280	Depressed nasal bridge
OMIM:309580	ATRX	546	HP:0004322	Short stature
OMIM:309580	ATRX	546	HP:0010808	Protruding tongue
OMIM:309580	ATRX	546	HP:0002857	Genu valgum
OMIM:309580	ATRX	546	HP:0000089	Renal hypoplasia
OMIM:309580	ATRX	546	HP:0000154	Wide mouth
OMIM:309580	ATRX	546	HP:0000582	Upslanted palpebral fissure
OMIM:309580	ATRX	546	HP:0000194	Open mouth
OMIM:309580	ATRX	546	HP:0000316	Hypertelorism
OMIM:309580	ATRX	546	HP:0000577	Exotropia
OMIM:309580	ATRX	546	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:309580	ATRX	546	HP:0000218	High palate
OMIM:309580	ATRX	546	HP:0000369	Low-set ears
OMIM:309580	ATRX	546	HP:0000252	Microcephaly
OMIM:309580	ATRX	546	HP:0001347	Hyperreflexia
OMIM:309580	ATRX	546	HP:0002750	Delayed skeletal maturation
OMIM:309580	ATRX	546	HP:0000028	Cryptorchidism
OMIM:309580	ATRX	546	HP:0002162	Low posterior hairline
OMIM:309580	ATRX	546	HP:0010806	U-Shaped upper lip vermilion
OMIM:309580	ATRX	546	HP:0002751	Kyphoscoliosis
OMIM:309580	ATRX	546	HP:0000272	Malar flattening
OMIM:309580	ATRX	546	HP:0000708	Behavioral abnormality
OMIM:309580	ATRX	546	HP:0100543	Cognitive impairment
OMIM:309580	ATRX	546	HP:0003812	Phenotypic variability
OMIM:309580	ATRX	546	HP:0006887	Intellectual disability, progressive
OMIM:309580	ATRX	546	HP:0000179	Thick lower lip vermilion
OMIM:309580	ATRX	546	HP:0000135	Hypogonadism
OMIM:309580	ATRX	546	HP:0000470	Short neck
OMIM:309580	ATRX	546	HP:0001182	Tapered finger
OMIM:309580	ATRX	546	HP:0001238	Slender finger
OMIM:309580	ATRX	546	HP:0010804	Tented upper lip vermilion
OMIM:309580	ATRX	546	HP:0002167	Neurological speech impairment
OMIM:309580	ATRX	546	HP:0000347	Micrognathia
OMIM:309580	ATRX	546	HP:0001762	Talipes equinovarus
OMIM:309580	ATRX	546	HP:0000280	Coarse facial features
OMIM:309580	ATRX	546	HP:0001250	Seizures
OMIM:309580	ATRX	546	HP:0002013	Vomiting
OMIM:309580	ATRX	546	HP:0011800	Hypoplasia of midface
OMIM:309580	ATRX	546	HP:0000358	Posteriorly rotated ears
OMIM:309580	ATRX	546	HP:0001513	Obesity
OMIM:309580	ATRX	546	HP:0000047	Hypospadias
OMIM:309580	ATRX	546	HP:0000407	Sensorineural hearing impairment
OMIM:309580	ATRX	546	HP:0000158	Macroglossia
OMIM:309580	ATRX	546	HP:0000219	Thin upper lip vermilion
OMIM:309580	ATRX	546	HP:0000431	Wide nasal bridge
OMIM:309580	ATRX	546	HP:0000463	Anteverted nares
OMIM:309580	ATRX	546	HP:0010864	Intellectual disability, severe
OMIM:309580	ATRX	546	HP:0008734	Decreased testicular size
OMIM:309580	ATRX	546	HP:0001763	Pes planus
OMIM:309580	ATRX	546	HP:0000286	Epicanthus
OMIM:309580	ATRX	546	HP:0001419	X-linked recessive inheritance
OMIM:309580	ATRX	546	HP:0100490	Camptodactyly of finger
OMIM:309580	ATRX	546	HP:0000076	Vesicoureteral reflux
OMIM:309580	ATRX	546	HP:0000268	Dolichocephaly
OMIM:309580	ATRX	546	HP:0009466	Radial deviation of finger
OMIM:309580	ATRX	546	HP:0000174	Abnormality of the palate
OMIM:309580	ATRX	546	HP:0002019	Constipation
OMIM:309580	ATRX	546	HP:0000752	Hyperactivity
OMIM:309580	ATRX	546	HP:0002307	Drooling
OMIM:309580	ATRX	546	HP:0008551	Microtia
OMIM:309580	ATRX	546	HP:0000054	Micropenis
OMIM:309580	ATRX	546	HP:0000648	Optic atrophy
OMIM:615942	METTL23	124512	HP:0001263	Global developmental delay
OMIM:615942	METTL23	124512	HP:0005280	Depressed nasal bridge
OMIM:615942	METTL23	124512	HP:0001250	Seizures
OMIM:615942	METTL23	124512	HP:0001763	Pes planus
OMIM:615942	METTL23	124512	HP:0000233	Thin vermilion border
OMIM:615942	METTL23	124512	HP:0001249	Intellectual disability
OMIM:615942	METTL23	124512	HP:0000343	Long philtrum
OMIM:615942	METTL23	124512	HP:0005469	Flat occiput
OMIM:615942	CRADD	8738	HP:0001263	Global developmental delay
OMIM:615942	CRADD	8738	HP:0005280	Depressed nasal bridge
OMIM:615942	CRADD	8738	HP:0001250	Seizures
OMIM:615942	CRADD	8738	HP:0001763	Pes planus
OMIM:615942	CRADD	8738	HP:0000233	Thin vermilion border
OMIM:615942	CRADD	8738	HP:0001249	Intellectual disability
OMIM:615942	CRADD	8738	HP:0000343	Long philtrum
OMIM:615942	CRADD	8738	HP:0005469	Flat occiput
OMIM:615942	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:615942	NSUN2	54888	HP:0005280	Depressed nasal bridge
OMIM:615942	NSUN2	54888	HP:0001250	Seizures
OMIM:615942	NSUN2	54888	HP:0001763	Pes planus
OMIM:615942	NSUN2	54888	HP:0000233	Thin vermilion border
OMIM:615942	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:615942	NSUN2	54888	HP:0000343	Long philtrum
OMIM:615942	NSUN2	54888	HP:0005469	Flat occiput
OMIM:615942	FMN2	56776	HP:0001263	Global developmental delay
OMIM:615942	FMN2	56776	HP:0005280	Depressed nasal bridge
OMIM:615942	FMN2	56776	HP:0001250	Seizures
OMIM:615942	FMN2	56776	HP:0001763	Pes planus
OMIM:615942	FMN2	56776	HP:0000233	Thin vermilion border
OMIM:615942	FMN2	56776	HP:0001249	Intellectual disability
OMIM:615942	FMN2	56776	HP:0000343	Long philtrum
OMIM:615942	FMN2	56776	HP:0005469	Flat occiput
OMIM:615942	CLIP1	6249	HP:0001263	Global developmental delay
OMIM:615942	CLIP1	6249	HP:0005280	Depressed nasal bridge
OMIM:615942	CLIP1	6249	HP:0001250	Seizures
OMIM:615942	CLIP1	6249	HP:0001763	Pes planus
OMIM:615942	CLIP1	6249	HP:0000233	Thin vermilion border
OMIM:615942	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:615942	CLIP1	6249	HP:0000343	Long philtrum
OMIM:615942	CLIP1	6249	HP:0005469	Flat occiput
OMIM:615942	ZC3H14	79882	HP:0001263	Global developmental delay
OMIM:615942	ZC3H14	79882	HP:0005280	Depressed nasal bridge
OMIM:615942	ZC3H14	79882	HP:0001250	Seizures
OMIM:615942	ZC3H14	79882	HP:0001763	Pes planus
OMIM:615942	ZC3H14	79882	HP:0000233	Thin vermilion border
OMIM:615942	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:615942	ZC3H14	79882	HP:0000343	Long philtrum
OMIM:615942	ZC3H14	79882	HP:0005469	Flat occiput
OMIM:615942	PRSS12	8492	HP:0001263	Global developmental delay
OMIM:615942	PRSS12	8492	HP:0005280	Depressed nasal bridge
OMIM:615942	PRSS12	8492	HP:0001250	Seizures
OMIM:615942	PRSS12	8492	HP:0001763	Pes planus
OMIM:615942	PRSS12	8492	HP:0000233	Thin vermilion border
OMIM:615942	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:615942	PRSS12	8492	HP:0000343	Long philtrum
OMIM:615942	PRSS12	8492	HP:0005469	Flat occiput
OMIM:615942	LINS1	55180	HP:0001263	Global developmental delay
OMIM:615942	LINS1	55180	HP:0005280	Depressed nasal bridge
OMIM:615942	LINS1	55180	HP:0001250	Seizures
OMIM:615942	LINS1	55180	HP:0001763	Pes planus
OMIM:615942	LINS1	55180	HP:0000233	Thin vermilion border
OMIM:615942	LINS1	55180	HP:0001249	Intellectual disability
OMIM:615942	LINS1	55180	HP:0000343	Long philtrum
OMIM:615942	LINS1	55180	HP:0005469	Flat occiput
OMIM:615942	NDST1	3340	HP:0001263	Global developmental delay
OMIM:615942	NDST1	3340	HP:0005280	Depressed nasal bridge
OMIM:615942	NDST1	3340	HP:0001250	Seizures
OMIM:615942	NDST1	3340	HP:0001763	Pes planus
OMIM:615942	NDST1	3340	HP:0000233	Thin vermilion border
OMIM:615942	NDST1	3340	HP:0001249	Intellectual disability
OMIM:615942	NDST1	3340	HP:0000343	Long philtrum
OMIM:615942	NDST1	3340	HP:0005469	Flat occiput
OMIM:615942	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:615942	CC2D1A	54862	HP:0005280	Depressed nasal bridge
OMIM:615942	CC2D1A	54862	HP:0001250	Seizures
OMIM:615942	CC2D1A	54862	HP:0001763	Pes planus
OMIM:615942	CC2D1A	54862	HP:0000233	Thin vermilion border
OMIM:615942	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:615942	CC2D1A	54862	HP:0000343	Long philtrum
OMIM:615942	CC2D1A	54862	HP:0005469	Flat occiput
OMIM:615942	FBXO31	79791	HP:0001263	Global developmental delay
OMIM:615942	FBXO31	79791	HP:0005280	Depressed nasal bridge
OMIM:615942	FBXO31	79791	HP:0001250	Seizures
OMIM:615942	FBXO31	79791	HP:0001763	Pes planus
OMIM:615942	FBXO31	79791	HP:0000233	Thin vermilion border
OMIM:615942	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:615942	FBXO31	79791	HP:0000343	Long philtrum
OMIM:615942	FBXO31	79791	HP:0005469	Flat occiput
OMIM:615942	CRBN	51185	HP:0001263	Global developmental delay
OMIM:615942	CRBN	51185	HP:0005280	Depressed nasal bridge
OMIM:615942	CRBN	51185	HP:0001250	Seizures
OMIM:615942	CRBN	51185	HP:0001763	Pes planus
OMIM:615942	CRBN	51185	HP:0000233	Thin vermilion border
OMIM:615942	CRBN	51185	HP:0001249	Intellectual disability
OMIM:615942	CRBN	51185	HP:0000343	Long philtrum
OMIM:615942	CRBN	51185	HP:0005469	Flat occiput
OMIM:615942	TRAPPC9	83696	HP:0001263	Global developmental delay
OMIM:615942	TRAPPC9	83696	HP:0005280	Depressed nasal bridge
OMIM:615942	TRAPPC9	83696	HP:0001250	Seizures
OMIM:615942	TRAPPC9	83696	HP:0001763	Pes planus
OMIM:615942	TRAPPC9	83696	HP:0000233	Thin vermilion border
OMIM:615942	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:615942	TRAPPC9	83696	HP:0000343	Long philtrum
OMIM:615942	TRAPPC9	83696	HP:0005469	Flat occiput
OMIM:615942	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:615942	GRIK2	2898	HP:0005280	Depressed nasal bridge
OMIM:615942	GRIK2	2898	HP:0001250	Seizures
OMIM:615942	GRIK2	2898	HP:0001763	Pes planus
OMIM:615942	GRIK2	2898	HP:0000233	Thin vermilion border
OMIM:615942	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:615942	GRIK2	2898	HP:0000343	Long philtrum
OMIM:615942	GRIK2	2898	HP:0005469	Flat occiput
OMIM:615942	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:615942	SLC6A17	388662	HP:0005280	Depressed nasal bridge
OMIM:615942	SLC6A17	388662	HP:0001250	Seizures
OMIM:615942	SLC6A17	388662	HP:0001763	Pes planus
OMIM:615942	SLC6A17	388662	HP:0000233	Thin vermilion border
OMIM:615942	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:615942	SLC6A17	388662	HP:0000343	Long philtrum
OMIM:615942	SLC6A17	388662	HP:0005469	Flat occiput
OMIM:615942	TECR	9524	HP:0001263	Global developmental delay
OMIM:615942	TECR	9524	HP:0005280	Depressed nasal bridge
OMIM:615942	TECR	9524	HP:0001250	Seizures
OMIM:615942	TECR	9524	HP:0001763	Pes planus
OMIM:615942	TECR	9524	HP:0000233	Thin vermilion border
OMIM:615942	TECR	9524	HP:0001249	Intellectual disability
OMIM:615942	TECR	9524	HP:0000343	Long philtrum
OMIM:615942	TECR	9524	HP:0005469	Flat occiput
OMIM:615942	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:615942	MAN1B1	11253	HP:0005280	Depressed nasal bridge
OMIM:615942	MAN1B1	11253	HP:0001250	Seizures
OMIM:615942	MAN1B1	11253	HP:0001763	Pes planus
OMIM:615942	MAN1B1	11253	HP:0000233	Thin vermilion border
OMIM:615942	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:615942	MAN1B1	11253	HP:0000343	Long philtrum
OMIM:615942	MAN1B1	11253	HP:0005469	Flat occiput
OMIM:615942	TUSC3	7991	HP:0001263	Global developmental delay
OMIM:615942	TUSC3	7991	HP:0005280	Depressed nasal bridge
OMIM:615942	TUSC3	7991	HP:0001250	Seizures
OMIM:615942	TUSC3	7991	HP:0001763	Pes planus
OMIM:615942	TUSC3	7991	HP:0000233	Thin vermilion border
OMIM:615942	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:615942	TUSC3	7991	HP:0000343	Long philtrum
OMIM:615942	TUSC3	7991	HP:0005469	Flat occiput
OMIM:615942	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:615942	ST3GAL3	6487	HP:0005280	Depressed nasal bridge
OMIM:615942	ST3GAL3	6487	HP:0001250	Seizures
OMIM:615942	ST3GAL3	6487	HP:0001763	Pes planus
OMIM:615942	ST3GAL3	6487	HP:0000233	Thin vermilion border
OMIM:615942	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:615942	ST3GAL3	6487	HP:0000343	Long philtrum
OMIM:615942	ST3GAL3	6487	HP:0005469	Flat occiput
OMIM:615942	EDC3	80153	HP:0001263	Global developmental delay
OMIM:615942	EDC3	80153	HP:0005280	Depressed nasal bridge
OMIM:615942	EDC3	80153	HP:0001250	Seizures
OMIM:615942	EDC3	80153	HP:0001763	Pes planus
OMIM:615942	EDC3	80153	HP:0000233	Thin vermilion border
OMIM:615942	EDC3	80153	HP:0001249	Intellectual disability
OMIM:615942	EDC3	80153	HP:0000343	Long philtrum
OMIM:615942	EDC3	80153	HP:0005469	Flat occiput
OMIM:615942	MED13L	23389	HP:0001263	Global developmental delay
OMIM:615942	MED13L	23389	HP:0005280	Depressed nasal bridge
OMIM:615942	MED13L	23389	HP:0001250	Seizures
OMIM:615942	MED13L	23389	HP:0001763	Pes planus
OMIM:615942	MED13L	23389	HP:0000233	Thin vermilion border
OMIM:615942	MED13L	23389	HP:0001249	Intellectual disability
OMIM:615942	MED13L	23389	HP:0000343	Long philtrum
OMIM:615942	MED13L	23389	HP:0005469	Flat occiput
OMIM:615942	KIAA1033	23325	HP:0001263	Global developmental delay
OMIM:615942	KIAA1033	23325	HP:0005280	Depressed nasal bridge
OMIM:615942	KIAA1033	23325	HP:0001250	Seizures
OMIM:615942	KIAA1033	23325	HP:0001763	Pes planus
OMIM:615942	KIAA1033	23325	HP:0000233	Thin vermilion border
OMIM:615942	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:615942	KIAA1033	23325	HP:0000343	Long philtrum
OMIM:615942	KIAA1033	23325	HP:0005469	Flat occiput
OMIM:615942	MED23	9439	HP:0001263	Global developmental delay
OMIM:615942	MED23	9439	HP:0005280	Depressed nasal bridge
OMIM:615942	MED23	9439	HP:0001250	Seizures
OMIM:615942	MED23	9439	HP:0001763	Pes planus
OMIM:615942	MED23	9439	HP:0000233	Thin vermilion border
OMIM:615942	MED23	9439	HP:0001249	Intellectual disability
OMIM:615942	MED23	9439	HP:0000343	Long philtrum
OMIM:615942	MED23	9439	HP:0005469	Flat occiput
OMIM:118800	PNKD	25953	HP:0003593	Infantile onset
OMIM:118800	PNKD	25953	HP:0000006	Autosomal dominant inheritance
OMIM:118800	PNKD	25953	HP:0000473	Torticollis
OMIM:118800	PNKD	25953	HP:0001260	Dysarthria
OMIM:118800	PNKD	25953	HP:0002015	Dysphagia
OMIM:118800	PNKD	25953	HP:0011463	Childhood onset
OMIM:118800	PRRT2	112476	HP:0003593	Infantile onset
OMIM:118800	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:118800	PRRT2	112476	HP:0000473	Torticollis
OMIM:118800	PRRT2	112476	HP:0001260	Dysarthria
OMIM:118800	PRRT2	112476	HP:0002015	Dysphagia
OMIM:118800	PRRT2	112476	HP:0011463	Childhood onset
OMIM:248190	CLDN19	149461	HP:0000121	Nephrocalcinosis
OMIM:248190	CLDN19	149461	HP:0000639	Nystagmus
OMIM:248190	CLDN19	149461	HP:0000010	Recurrent urinary tract infections
OMIM:248190	CLDN19	149461	HP:0002150	Hypercalciuria
OMIM:248190	CLDN19	149461	HP:0012622	Chronic kidney disease
OMIM:248190	CLDN19	149461	HP:0000787	Nephrolithiasis
OMIM:248190	CLDN19	149461	HP:0000007	Autosomal recessive inheritance
OMIM:248190	CLDN19	149461	HP:0000545	Myopia
OMIM:248190	CLDN19	149461	HP:0005567	Renal magnesium wasting
OMIM:248190	CLDN19	149461	HP:0001537	Umbilical hernia
OMIM:248190	CLDN19	149461	HP:0000112	Nephropathy
OMIM:248190	CLDN19	149461	HP:0100530	Abnormality of calcium-phosphate metabolism
OMIM:248190	CLDN19	149461	HP:0000567	Chorioretinal coloboma
OMIM:248190	CLDN19	149461	HP:0000790	Hematuria
OMIM:248190	CLDN19	149461	HP:0007703	Abnormality of retinal pigmentation
OMIM:610829	GLI2	2736	HP:0003829	Incomplete penetrance
OMIM:610829	GLI2	2736	HP:0000824	Growth hormone deficiency
OMIM:610829	GLI2	2736	HP:0000609	Optic nerve hypoplasia
OMIM:610829	GLI2	2736	HP:0006485	Agenesis of incisor
OMIM:610829	GLI2	2736	HP:0000689	Dental malocclusion
OMIM:610829	GLI2	2736	HP:0009932	Single naris
OMIM:610829	GLI2	2736	HP:0000252	Microcephaly
OMIM:610829	GLI2	2736	HP:0001263	Global developmental delay
OMIM:610829	GLI2	2736	HP:0001338	Partial agenesis of the corpus callosum
OMIM:610829	GLI2	2736	HP:0000601	Hypotelorism
OMIM:610829	GLI2	2736	HP:0000028	Cryptorchidism
OMIM:610829	GLI2	2736	HP:0006315	Single median maxillary incisor
OMIM:610829	GLI2	2736	HP:0000568	Microphthalmia
OMIM:610829	GLI2	2736	HP:0010626	Anterior pituitary agenesis
OMIM:610829	GLI2	2736	HP:0000238	Hydrocephalus
OMIM:610829	GLI2	2736	HP:0001162	Postaxial hand polydactyly
OMIM:610829	GLI2	2736	HP:0002536	Abnormal cortical gyration
OMIM:610829	GLI2	2736	HP:0000400	Macrotia
OMIM:610829	GLI2	2736	HP:0000006	Autosomal dominant inheritance
OMIM:610829	GLI2	2736	HP:0000322	Short philtrum
OMIM:610829	GLI2	2736	HP:0000528	Anophthalmia
OMIM:610829	GLI2	2736	HP:0003745	Sporadic
OMIM:610829	GLI2	2736	HP:0001360	Holoprosencephaly
OMIM:610829	GLI2	2736	HP:0003828	Variable expressivity
OMIM:610829	GLI2	2736	HP:0000327	Hypoplasia of the maxilla
OMIM:610829	GLI2	2736	HP:0000272	Malar flattening
OMIM:610829	GLI2	2736	HP:0000054	Micropenis
OMIM:610829	GLI2	2736	HP:0004322	Short stature
OMIM:610829	GLI2	2736	HP:0005280	Depressed nasal bridge
OMIM:610829	GLI2	2736	HP:0001250	Seizures
OMIM:610829	GLI2	2736	HP:0011800	Hypoplasia of midface
OMIM:615350	POMT2	29954	HP:0001324	Muscle weakness
OMIM:615350	POMT2	29954	HP:0000175	Cleft palate
OMIM:615350	POMT2	29954	HP:0001263	Global developmental delay
OMIM:615350	POMT2	29954	HP:0001249	Intellectual disability
OMIM:615350	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615350	POMT2	29954	HP:0011968	Feeding difficulties
OMIM:615350	POMT2	29954	HP:0001251	Ataxia
OMIM:615350	POMT2	29954	HP:0012110	Hypoplasia of the pons
OMIM:615350	POMT2	29954	HP:0000252	Microcephaly
OMIM:615350	POMT2	29954	HP:0001344	Absent speech
OMIM:615350	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:615350	POMT2	29954	HP:0003577	Congenital onset
OMIM:615350	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:615350	POMT2	29954	HP:0001562	Oligohydramnios
OMIM:615350	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:615350	POMT2	29954	HP:0000407	Sensorineural hearing impairment
OMIM:615350	GMPPB	29925	HP:0001324	Muscle weakness
OMIM:615350	GMPPB	29925	HP:0000175	Cleft palate
OMIM:615350	GMPPB	29925	HP:0001263	Global developmental delay
OMIM:615350	GMPPB	29925	HP:0001249	Intellectual disability
OMIM:615350	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615350	GMPPB	29925	HP:0011968	Feeding difficulties
OMIM:615350	GMPPB	29925	HP:0001251	Ataxia
OMIM:615350	GMPPB	29925	HP:0012110	Hypoplasia of the pons
OMIM:615350	GMPPB	29925	HP:0000252	Microcephaly
OMIM:615350	GMPPB	29925	HP:0001344	Absent speech
OMIM:615350	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:615350	GMPPB	29925	HP:0003577	Congenital onset
OMIM:615350	GMPPB	29925	HP:0003560	Muscular dystrophy
OMIM:615350	GMPPB	29925	HP:0001562	Oligohydramnios
OMIM:615350	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:615350	GMPPB	29925	HP:0000407	Sensorineural hearing impairment
OMIM:615350	B3GALNT2	148789	HP:0001324	Muscle weakness
OMIM:615350	B3GALNT2	148789	HP:0000175	Cleft palate
OMIM:615350	B3GALNT2	148789	HP:0001263	Global developmental delay
OMIM:615350	B3GALNT2	148789	HP:0001249	Intellectual disability
OMIM:615350	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615350	B3GALNT2	148789	HP:0011968	Feeding difficulties
OMIM:615350	B3GALNT2	148789	HP:0001251	Ataxia
OMIM:615350	B3GALNT2	148789	HP:0012110	Hypoplasia of the pons
OMIM:615350	B3GALNT2	148789	HP:0000252	Microcephaly
OMIM:615350	B3GALNT2	148789	HP:0001344	Absent speech
OMIM:615350	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:615350	B3GALNT2	148789	HP:0003577	Congenital onset
OMIM:615350	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:615350	B3GALNT2	148789	HP:0001562	Oligohydramnios
OMIM:615350	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:615350	B3GALNT2	148789	HP:0000407	Sensorineural hearing impairment
OMIM:615350	POMGNT1	55624	HP:0001324	Muscle weakness
OMIM:615350	POMGNT1	55624	HP:0000175	Cleft palate
OMIM:615350	POMGNT1	55624	HP:0001263	Global developmental delay
OMIM:615350	POMGNT1	55624	HP:0001249	Intellectual disability
OMIM:615350	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615350	POMGNT1	55624	HP:0011968	Feeding difficulties
OMIM:615350	POMGNT1	55624	HP:0001251	Ataxia
OMIM:615350	POMGNT1	55624	HP:0012110	Hypoplasia of the pons
OMIM:615350	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:615350	POMGNT1	55624	HP:0001344	Absent speech
OMIM:615350	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:615350	POMGNT1	55624	HP:0003577	Congenital onset
OMIM:615350	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:615350	POMGNT1	55624	HP:0001562	Oligohydramnios
OMIM:615350	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:615350	POMGNT1	55624	HP:0000407	Sensorineural hearing impairment
OMIM:615350	POMT1	10585	HP:0001324	Muscle weakness
OMIM:615350	POMT1	10585	HP:0000175	Cleft palate
OMIM:615350	POMT1	10585	HP:0001263	Global developmental delay
OMIM:615350	POMT1	10585	HP:0001249	Intellectual disability
OMIM:615350	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615350	POMT1	10585	HP:0011968	Feeding difficulties
OMIM:615350	POMT1	10585	HP:0001251	Ataxia
OMIM:615350	POMT1	10585	HP:0012110	Hypoplasia of the pons
OMIM:615350	POMT1	10585	HP:0000252	Microcephaly
OMIM:615350	POMT1	10585	HP:0001344	Absent speech
OMIM:615350	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:615350	POMT1	10585	HP:0003577	Congenital onset
OMIM:615350	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:615350	POMT1	10585	HP:0001562	Oligohydramnios
OMIM:615350	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:615350	POMT1	10585	HP:0000407	Sensorineural hearing impairment
OMIM:615350	FKTN	2218	HP:0001324	Muscle weakness
OMIM:615350	FKTN	2218	HP:0000175	Cleft palate
OMIM:615350	FKTN	2218	HP:0001263	Global developmental delay
OMIM:615350	FKTN	2218	HP:0001249	Intellectual disability
OMIM:615350	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615350	FKTN	2218	HP:0011968	Feeding difficulties
OMIM:615350	FKTN	2218	HP:0001251	Ataxia
OMIM:615350	FKTN	2218	HP:0012110	Hypoplasia of the pons
OMIM:615350	FKTN	2218	HP:0000252	Microcephaly
OMIM:615350	FKTN	2218	HP:0001344	Absent speech
OMIM:615350	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:615350	FKTN	2218	HP:0003577	Congenital onset
OMIM:615350	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:615350	FKTN	2218	HP:0001562	Oligohydramnios
OMIM:615350	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:615350	FKTN	2218	HP:0000407	Sensorineural hearing impairment
OMIM:615350	FKRP	79147	HP:0001324	Muscle weakness
OMIM:615350	FKRP	79147	HP:0000175	Cleft palate
OMIM:615350	FKRP	79147	HP:0001263	Global developmental delay
OMIM:615350	FKRP	79147	HP:0001249	Intellectual disability
OMIM:615350	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615350	FKRP	79147	HP:0011968	Feeding difficulties
OMIM:615350	FKRP	79147	HP:0001251	Ataxia
OMIM:615350	FKRP	79147	HP:0012110	Hypoplasia of the pons
OMIM:615350	FKRP	79147	HP:0000252	Microcephaly
OMIM:615350	FKRP	79147	HP:0001344	Absent speech
OMIM:615350	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:615350	FKRP	79147	HP:0003577	Congenital onset
OMIM:615350	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:615350	FKRP	79147	HP:0001562	Oligohydramnios
OMIM:615350	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:615350	FKRP	79147	HP:0000407	Sensorineural hearing impairment
OMIM:615350	LARGE	9215	HP:0001324	Muscle weakness
OMIM:615350	LARGE	9215	HP:0000175	Cleft palate
OMIM:615350	LARGE	9215	HP:0001263	Global developmental delay
OMIM:615350	LARGE	9215	HP:0001249	Intellectual disability
OMIM:615350	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615350	LARGE	9215	HP:0011968	Feeding difficulties
OMIM:615350	LARGE	9215	HP:0001251	Ataxia
OMIM:615350	LARGE	9215	HP:0012110	Hypoplasia of the pons
OMIM:615350	LARGE	9215	HP:0000252	Microcephaly
OMIM:615350	LARGE	9215	HP:0001344	Absent speech
OMIM:615350	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:615350	LARGE	9215	HP:0003577	Congenital onset
OMIM:615350	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:615350	LARGE	9215	HP:0001562	Oligohydramnios
OMIM:615350	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:615350	LARGE	9215	HP:0000407	Sensorineural hearing impairment
OMIM:604320	MEGF10	84466	HP:0001622	Premature birth
OMIM:604320	MEGF10	84466	HP:0000762	Decreased nerve conduction velocity
OMIM:604320	MEGF10	84466	HP:0000764	Peripheral axonal degeneration
OMIM:604320	MEGF10	84466	HP:0002019	Constipation
OMIM:604320	MEGF10	84466	HP:0000975	Hyperhidrosis
OMIM:604320	MEGF10	84466	HP:0000007	Autosomal recessive inheritance
OMIM:604320	MEGF10	84466	HP:0007269	Spinal muscular atrophy
OMIM:604320	MEGF10	84466	HP:0001508	Failure to thrive
OMIM:604320	MEGF10	84466	HP:0100490	Camptodactyly of finger
OMIM:604320	MEGF10	84466	HP:0000020	Urinary incontinence
OMIM:604320	MEGF10	84466	HP:0001762	Talipes equinovarus
OMIM:604320	MEGF10	84466	HP:0003690	Limb muscle weakness
OMIM:604320	MEGF10	84466	HP:0001265	Hyporeflexia
OMIM:604320	MEGF10	84466	HP:0002398	Degeneration of anterior horn cells
OMIM:604320	MEGF10	84466	HP:0003693	Distal amyotrophy
OMIM:604320	MEGF10	84466	HP:0001518	Small for gestational age
OMIM:604320	MEGF10	84466	HP:0001558	Decreased fetal movement
OMIM:604320	MEGF10	84466	HP:0002460	Distal muscle weakness
OMIM:604320	MEGF10	84466	HP:0002789	Tachypnea
OMIM:604320	MEGF10	84466	HP:0001511	Intrauterine growth retardation
OMIM:604320	MEGF10	84466	HP:0002878	Respiratory failure
OMIM:604320	MEGF10	84466	HP:0003445	EMG: neuropathic changes
OMIM:604320	IGHMBP2	3508	HP:0001622	Premature birth
OMIM:604320	IGHMBP2	3508	HP:0000762	Decreased nerve conduction velocity
OMIM:604320	IGHMBP2	3508	HP:0000764	Peripheral axonal degeneration
OMIM:604320	IGHMBP2	3508	HP:0002019	Constipation
OMIM:604320	IGHMBP2	3508	HP:0000975	Hyperhidrosis
OMIM:604320	IGHMBP2	3508	HP:0000007	Autosomal recessive inheritance
OMIM:604320	IGHMBP2	3508	HP:0007269	Spinal muscular atrophy
OMIM:604320	IGHMBP2	3508	HP:0001508	Failure to thrive
OMIM:604320	IGHMBP2	3508	HP:0100490	Camptodactyly of finger
OMIM:604320	IGHMBP2	3508	HP:0000020	Urinary incontinence
OMIM:604320	IGHMBP2	3508	HP:0001762	Talipes equinovarus
OMIM:604320	IGHMBP2	3508	HP:0003690	Limb muscle weakness
OMIM:604320	IGHMBP2	3508	HP:0001265	Hyporeflexia
OMIM:604320	IGHMBP2	3508	HP:0002398	Degeneration of anterior horn cells
OMIM:604320	IGHMBP2	3508	HP:0003693	Distal amyotrophy
OMIM:604320	IGHMBP2	3508	HP:0001518	Small for gestational age
OMIM:604320	IGHMBP2	3508	HP:0001558	Decreased fetal movement
OMIM:604320	IGHMBP2	3508	HP:0002460	Distal muscle weakness
OMIM:604320	IGHMBP2	3508	HP:0002789	Tachypnea
OMIM:604320	IGHMBP2	3508	HP:0001511	Intrauterine growth retardation
OMIM:604320	IGHMBP2	3508	HP:0002878	Respiratory failure
OMIM:604320	IGHMBP2	3508	HP:0003445	EMG: neuropathic changes
OMIM:612645	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:612645	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:612645	MSRB3	253827	HP:0001751	Vestibular dysfunction
OMIM:612645	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:612645	BSND	7809	HP:0000365	Hearing impairment
OMIM:612645	BSND	7809	HP:0001751	Vestibular dysfunction
OMIM:612645	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:612645	ESPN	83715	HP:0000365	Hearing impairment
OMIM:612645	ESPN	83715	HP:0001751	Vestibular dysfunction
OMIM:612645	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:612645	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:612645	DFNB31	25861	HP:0001751	Vestibular dysfunction
OMIM:612645	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:612645	OTOA	146183	HP:0000365	Hearing impairment
OMIM:612645	OTOA	146183	HP:0001751	Vestibular dysfunction
OMIM:612645	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:612645	GJA1	2697	HP:0000365	Hearing impairment
OMIM:612645	GJA1	2697	HP:0001751	Vestibular dysfunction
OMIM:612645	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:612645	MET	4233	HP:0000365	Hearing impairment
OMIM:612645	MET	4233	HP:0001751	Vestibular dysfunction
OMIM:612645	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:612645	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:612645	CLDN14	23562	HP:0001751	Vestibular dysfunction
OMIM:612645	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:612645	HGF	3082	HP:0000365	Hearing impairment
OMIM:612645	HGF	3082	HP:0001751	Vestibular dysfunction
OMIM:612645	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:612645	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:612645	PNPT1	87178	HP:0001751	Vestibular dysfunction
OMIM:612645	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:612645	EPS8	2059	HP:0000365	Hearing impairment
OMIM:612645	EPS8	2059	HP:0001751	Vestibular dysfunction
OMIM:612645	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:612645	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:612645	MYO3A	53904	HP:0001751	Vestibular dysfunction
OMIM:612645	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:612645	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:612645	DCDC2	51473	HP:0001751	Vestibular dysfunction
OMIM:612645	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:612645	GJB2	2706	HP:0000365	Hearing impairment
OMIM:612645	GJB2	2706	HP:0001751	Vestibular dysfunction
OMIM:612645	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:612645	GJB3	2707	HP:0000365	Hearing impairment
OMIM:612645	GJB3	2707	HP:0001751	Vestibular dysfunction
OMIM:612645	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:612645	CABP2	51475	HP:0000365	Hearing impairment
OMIM:612645	CABP2	51475	HP:0001751	Vestibular dysfunction
OMIM:612645	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:612645	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:612645	GRXCR2	643226	HP:0001751	Vestibular dysfunction
OMIM:612645	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:612645	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:612645	SERPINB6	5269	HP:0001751	Vestibular dysfunction
OMIM:612645	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:612645	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:612645	COL11A2	1302	HP:0001751	Vestibular dysfunction
OMIM:612645	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:612645	CIB2	10518	HP:0000365	Hearing impairment
OMIM:612645	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:612645	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:612645	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:612645	FAM65B	9750	HP:0001751	Vestibular dysfunction
OMIM:612645	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:612645	KARS	3735	HP:0000365	Hearing impairment
OMIM:612645	KARS	3735	HP:0001751	Vestibular dysfunction
OMIM:612645	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:612645	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:612645	LOXHD1	125336	HP:0001751	Vestibular dysfunction
OMIM:612645	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:612645	TMC1	117531	HP:0000365	Hearing impairment
OMIM:612645	TMC1	117531	HP:0001751	Vestibular dysfunction
OMIM:612645	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:612645	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:612645	CLIC5	53405	HP:0001751	Vestibular dysfunction
OMIM:612645	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:612645	OTOF	9381	HP:0000365	Hearing impairment
OMIM:612645	OTOF	9381	HP:0001751	Vestibular dysfunction
OMIM:612645	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:612645	MYO6	4646	HP:0000365	Hearing impairment
OMIM:612645	MYO6	4646	HP:0001751	Vestibular dysfunction
OMIM:612645	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:612645	TMIE	259236	HP:0000365	Hearing impairment
OMIM:612645	TMIE	259236	HP:0001751	Vestibular dysfunction
OMIM:612645	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:612645	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:612645	MYO7A	4647	HP:0001751	Vestibular dysfunction
OMIM:612645	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:612645	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:612645	LRTOMT	220074	HP:0001751	Vestibular dysfunction
OMIM:612645	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:612645	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:612645	OTOGL	283310	HP:0001751	Vestibular dysfunction
OMIM:612645	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:612645	TPRN	286262	HP:0000365	Hearing impairment
OMIM:612645	TPRN	286262	HP:0001751	Vestibular dysfunction
OMIM:612645	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:612645	GJB6	10804	HP:0000365	Hearing impairment
OMIM:612645	GJB6	10804	HP:0001751	Vestibular dysfunction
OMIM:612645	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:612645	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:612645	SLC26A4	5172	HP:0001751	Vestibular dysfunction
OMIM:612645	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:612645	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:612645	DFNB59	494513	HP:0001751	Vestibular dysfunction
OMIM:612645	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:612645	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:612645	ESRRB	2103	HP:0001751	Vestibular dysfunction
OMIM:612645	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:612645	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:612645	TMPRSS3	64699	HP:0001751	Vestibular dysfunction
OMIM:612645	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:612645	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:612645	PTPRQ	374462	HP:0001751	Vestibular dysfunction
OMIM:612645	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:612645	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:612645	SLC26A5	375611	HP:0001751	Vestibular dysfunction
OMIM:612645	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:612645	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:612645	PCDH15	65217	HP:0001751	Vestibular dysfunction
OMIM:612645	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:612645	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:612645	TSPEAR	54084	HP:0001751	Vestibular dysfunction
OMIM:612645	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:612645	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:612645	LHFPL5	222662	HP:0001751	Vestibular dysfunction
OMIM:612645	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:612645	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:612645	TRIOBP	11078	HP:0001751	Vestibular dysfunction
OMIM:612645	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:612645	CDH23	64072	HP:0000365	Hearing impairment
OMIM:612645	CDH23	64072	HP:0001751	Vestibular dysfunction
OMIM:612645	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:612645	RDX	5962	HP:0000365	Hearing impairment
OMIM:612645	RDX	5962	HP:0001751	Vestibular dysfunction
OMIM:612645	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:612645	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:612645	GPSM2	29899	HP:0001751	Vestibular dysfunction
OMIM:612645	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:612645	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:612645	ELMOD3	84173	HP:0001751	Vestibular dysfunction
OMIM:612645	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:612645	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:612645	ILDR1	286676	HP:0001751	Vestibular dysfunction
OMIM:612645	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:612645	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:612645	GRXCR1	389207	HP:0001751	Vestibular dysfunction
OMIM:612645	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:612645	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:612645	MARVELD2	153562	HP:0001751	Vestibular dysfunction
OMIM:612645	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:612645	STRC	161497	HP:0000365	Hearing impairment
OMIM:612645	STRC	161497	HP:0001751	Vestibular dysfunction
OMIM:612645	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:612645	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:612645	SLITRK6	84189	HP:0001751	Vestibular dysfunction
OMIM:612645	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:612645	TECTA	7007	HP:0000365	Hearing impairment
OMIM:612645	TECTA	7007	HP:0001751	Vestibular dysfunction
OMIM:612645	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:612645	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:612645	MYO15A	51168	HP:0001751	Vestibular dysfunction
OMIM:612645	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:612645	USH1C	10083	HP:0000365	Hearing impairment
OMIM:612645	USH1C	10083	HP:0001751	Vestibular dysfunction
OMIM:612645	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:612645	ADCY1	107	HP:0000365	Hearing impairment
OMIM:612645	ADCY1	107	HP:0001751	Vestibular dysfunction
OMIM:612645	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:612645	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:612645	SYNE4	163183	HP:0001751	Vestibular dysfunction
OMIM:612645	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:612645	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:612645	GIPC3	126326	HP:0001751	Vestibular dysfunction
OMIM:612645	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:612645	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:612645	TBC1D24	57465	HP:0001751	Vestibular dysfunction
OMIM:612645	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:612645	OTOG	340990	HP:0000365	Hearing impairment
OMIM:612645	OTOG	340990	HP:0001751	Vestibular dysfunction
OMIM:220150	SLC22A12	116085	HP:0001919	Acute kidney injury
OMIM:220150	SLC22A12	116085	HP:0000007	Autosomal recessive inheritance
OMIM:220150	SLC2A9	56606	HP:0001919	Acute kidney injury
OMIM:220150	SLC2A9	56606	HP:0000007	Autosomal recessive inheritance
OMIM:613625	MCFD2	90411	HP:0000007	Autosomal recessive inheritance
OMIM:613625	MCFD2	90411	HP:0000421	Epistaxis
OMIM:613625	LMAN1	3998	HP:0000007	Autosomal recessive inheritance
OMIM:613625	LMAN1	3998	HP:0000421	Epistaxis
OMIM:614104	MBD5	55777	HP:0000341	Narrow forehead
OMIM:614104	MBD5	55777	HP:0011344	Severe global developmental delay
OMIM:614104	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:614104	MBD5	55777	HP:0001249	Intellectual disability
OMIM:614104	MBD5	55777	HP:0000717	Autism
OMIM:614104	MBD5	55777	HP:0000490	Deeply set eye
OMIM:614104	MBD5	55777	HP:0002373	Febrile seizures
OMIM:614104	MBD5	55777	HP:0001531	Failure to thrive in infancy
OMIM:614104	MBD5	55777	HP:0002120	Cerebral cortical atrophy
OMIM:614104	MBD5	55777	HP:0001822	Hallux valgus
OMIM:614104	MBD5	55777	HP:0000252	Microcephaly
OMIM:614104	CACNG2	10369	HP:0000341	Narrow forehead
OMIM:614104	CACNG2	10369	HP:0011344	Severe global developmental delay
OMIM:614104	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:614104	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:614104	CACNG2	10369	HP:0000717	Autism
OMIM:614104	CACNG2	10369	HP:0000490	Deeply set eye
OMIM:614104	CACNG2	10369	HP:0002373	Febrile seizures
OMIM:614104	CACNG2	10369	HP:0001531	Failure to thrive in infancy
OMIM:614104	CACNG2	10369	HP:0002120	Cerebral cortical atrophy
OMIM:614104	CACNG2	10369	HP:0001822	Hallux valgus
OMIM:614104	CACNG2	10369	HP:0000252	Microcephaly
OMIM:614104	DYRK1A	1859	HP:0000341	Narrow forehead
OMIM:614104	DYRK1A	1859	HP:0011344	Severe global developmental delay
OMIM:614104	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:614104	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:614104	DYRK1A	1859	HP:0000717	Autism
OMIM:614104	DYRK1A	1859	HP:0000490	Deeply set eye
OMIM:614104	DYRK1A	1859	HP:0002373	Febrile seizures
OMIM:614104	DYRK1A	1859	HP:0001531	Failure to thrive in infancy
OMIM:614104	DYRK1A	1859	HP:0002120	Cerebral cortical atrophy
OMIM:614104	DYRK1A	1859	HP:0001822	Hallux valgus
OMIM:614104	DYRK1A	1859	HP:0000252	Microcephaly
OMIM:614104	KIF1A	547	HP:0000341	Narrow forehead
OMIM:614104	KIF1A	547	HP:0011344	Severe global developmental delay
OMIM:614104	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:614104	KIF1A	547	HP:0001249	Intellectual disability
OMIM:614104	KIF1A	547	HP:0000717	Autism
OMIM:614104	KIF1A	547	HP:0000490	Deeply set eye
OMIM:614104	KIF1A	547	HP:0002373	Febrile seizures
OMIM:614104	KIF1A	547	HP:0001531	Failure to thrive in infancy
OMIM:614104	KIF1A	547	HP:0002120	Cerebral cortical atrophy
OMIM:614104	KIF1A	547	HP:0001822	Hallux valgus
OMIM:614104	KIF1A	547	HP:0000252	Microcephaly
OMIM:614104	DOCK8	81704	HP:0000341	Narrow forehead
OMIM:614104	DOCK8	81704	HP:0011344	Severe global developmental delay
OMIM:614104	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:614104	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:614104	DOCK8	81704	HP:0000717	Autism
OMIM:614104	DOCK8	81704	HP:0000490	Deeply set eye
OMIM:614104	DOCK8	81704	HP:0002373	Febrile seizures
OMIM:614104	DOCK8	81704	HP:0001531	Failure to thrive in infancy
OMIM:614104	DOCK8	81704	HP:0002120	Cerebral cortical atrophy
OMIM:614104	DOCK8	81704	HP:0001822	Hallux valgus
OMIM:614104	DOCK8	81704	HP:0000252	Microcephaly
OMIM:614104	TCF4	6925	HP:0000341	Narrow forehead
OMIM:614104	TCF4	6925	HP:0011344	Severe global developmental delay
OMIM:614104	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:614104	TCF4	6925	HP:0001249	Intellectual disability
OMIM:614104	TCF4	6925	HP:0000717	Autism
OMIM:614104	TCF4	6925	HP:0000490	Deeply set eye
OMIM:614104	TCF4	6925	HP:0002373	Febrile seizures
OMIM:614104	TCF4	6925	HP:0001531	Failure to thrive in infancy
OMIM:614104	TCF4	6925	HP:0002120	Cerebral cortical atrophy
OMIM:614104	TCF4	6925	HP:0001822	Hallux valgus
OMIM:614104	TCF4	6925	HP:0000252	Microcephaly
OMIM:614104	KIRREL3	84623	HP:0000341	Narrow forehead
OMIM:614104	KIRREL3	84623	HP:0011344	Severe global developmental delay
OMIM:614104	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:614104	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:614104	KIRREL3	84623	HP:0000717	Autism
OMIM:614104	KIRREL3	84623	HP:0000490	Deeply set eye
OMIM:614104	KIRREL3	84623	HP:0002373	Febrile seizures
OMIM:614104	KIRREL3	84623	HP:0001531	Failure to thrive in infancy
OMIM:614104	KIRREL3	84623	HP:0002120	Cerebral cortical atrophy
OMIM:614104	KIRREL3	84623	HP:0001822	Hallux valgus
OMIM:614104	KIRREL3	84623	HP:0000252	Microcephaly
OMIM:614104	DYNC1H1	1778	HP:0000341	Narrow forehead
OMIM:614104	DYNC1H1	1778	HP:0011344	Severe global developmental delay
OMIM:614104	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:614104	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:614104	DYNC1H1	1778	HP:0000717	Autism
OMIM:614104	DYNC1H1	1778	HP:0000490	Deeply set eye
OMIM:614104	DYNC1H1	1778	HP:0002373	Febrile seizures
OMIM:614104	DYNC1H1	1778	HP:0001531	Failure to thrive in infancy
OMIM:614104	DYNC1H1	1778	HP:0002120	Cerebral cortical atrophy
OMIM:614104	DYNC1H1	1778	HP:0001822	Hallux valgus
OMIM:614104	DYNC1H1	1778	HP:0000252	Microcephaly
OMIM:614104	EPB41L1	2036	HP:0000341	Narrow forehead
OMIM:614104	EPB41L1	2036	HP:0011344	Severe global developmental delay
OMIM:614104	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:614104	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:614104	EPB41L1	2036	HP:0000717	Autism
OMIM:614104	EPB41L1	2036	HP:0000490	Deeply set eye
OMIM:614104	EPB41L1	2036	HP:0002373	Febrile seizures
OMIM:614104	EPB41L1	2036	HP:0001531	Failure to thrive in infancy
OMIM:614104	EPB41L1	2036	HP:0002120	Cerebral cortical atrophy
OMIM:614104	EPB41L1	2036	HP:0001822	Hallux valgus
OMIM:614104	EPB41L1	2036	HP:0000252	Microcephaly
OMIM:614104	CDH15	1013	HP:0000341	Narrow forehead
OMIM:614104	CDH15	1013	HP:0011344	Severe global developmental delay
OMIM:614104	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:614104	CDH15	1013	HP:0001249	Intellectual disability
OMIM:614104	CDH15	1013	HP:0000717	Autism
OMIM:614104	CDH15	1013	HP:0000490	Deeply set eye
OMIM:614104	CDH15	1013	HP:0002373	Febrile seizures
OMIM:614104	CDH15	1013	HP:0001531	Failure to thrive in infancy
OMIM:614104	CDH15	1013	HP:0002120	Cerebral cortical atrophy
OMIM:614104	CDH15	1013	HP:0001822	Hallux valgus
OMIM:614104	CDH15	1013	HP:0000252	Microcephaly
OMIM:614104	GRIN1	2902	HP:0000341	Narrow forehead
OMIM:614104	GRIN1	2902	HP:0011344	Severe global developmental delay
OMIM:614104	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:614104	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:614104	GRIN1	2902	HP:0000717	Autism
OMIM:614104	GRIN1	2902	HP:0000490	Deeply set eye
OMIM:614104	GRIN1	2902	HP:0002373	Febrile seizures
OMIM:614104	GRIN1	2902	HP:0001531	Failure to thrive in infancy
OMIM:614104	GRIN1	2902	HP:0002120	Cerebral cortical atrophy
OMIM:614104	GRIN1	2902	HP:0001822	Hallux valgus
OMIM:614104	GRIN1	2902	HP:0000252	Microcephaly
OMIM:614104	GRIN2B	2904	HP:0000341	Narrow forehead
OMIM:614104	GRIN2B	2904	HP:0011344	Severe global developmental delay
OMIM:614104	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:614104	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:614104	GRIN2B	2904	HP:0000717	Autism
OMIM:614104	GRIN2B	2904	HP:0000490	Deeply set eye
OMIM:614104	GRIN2B	2904	HP:0002373	Febrile seizures
OMIM:614104	GRIN2B	2904	HP:0001531	Failure to thrive in infancy
OMIM:614104	GRIN2B	2904	HP:0002120	Cerebral cortical atrophy
OMIM:614104	GRIN2B	2904	HP:0001822	Hallux valgus
OMIM:614104	GRIN2B	2904	HP:0000252	Microcephaly
OMIM:614104	DEAF1	10522	HP:0000341	Narrow forehead
OMIM:614104	DEAF1	10522	HP:0011344	Severe global developmental delay
OMIM:614104	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:614104	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:614104	DEAF1	10522	HP:0000717	Autism
OMIM:614104	DEAF1	10522	HP:0000490	Deeply set eye
OMIM:614104	DEAF1	10522	HP:0002373	Febrile seizures
OMIM:614104	DEAF1	10522	HP:0001531	Failure to thrive in infancy
OMIM:614104	DEAF1	10522	HP:0002120	Cerebral cortical atrophy
OMIM:614104	DEAF1	10522	HP:0001822	Hallux valgus
OMIM:614104	DEAF1	10522	HP:0000252	Microcephaly
OMIM:614104	SYNGAP1	8831	HP:0000341	Narrow forehead
OMIM:614104	SYNGAP1	8831	HP:0011344	Severe global developmental delay
OMIM:614104	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:614104	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:614104	SYNGAP1	8831	HP:0000717	Autism
OMIM:614104	SYNGAP1	8831	HP:0000490	Deeply set eye
OMIM:614104	SYNGAP1	8831	HP:0002373	Febrile seizures
OMIM:614104	SYNGAP1	8831	HP:0001531	Failure to thrive in infancy
OMIM:614104	SYNGAP1	8831	HP:0002120	Cerebral cortical atrophy
OMIM:614104	SYNGAP1	8831	HP:0001822	Hallux valgus
OMIM:614104	SYNGAP1	8831	HP:0000252	Microcephaly
OMIM:615381	POLD1	5424	HP:0002240	Hepatomegaly
OMIM:615381	POLD1	5424	HP:0002650	Scoliosis
OMIM:615381	POLD1	5424	HP:0000407	Sensorineural hearing impairment
OMIM:615381	POLD1	5424	HP:0000855	Insulin resistance
OMIM:615381	POLD1	5424	HP:0001009	Telangiectasia
OMIM:615381	POLD1	5424	HP:0004334	Dermal atrophy
OMIM:615381	POLD1	5424	HP:0002155	Hypertriglyceridemia
OMIM:615381	POLD1	5424	HP:0000939	Osteoporosis
OMIM:615381	POLD1	5424	HP:0001620	High pitched voice
OMIM:615381	POLD1	5424	HP:0001371	Flexion contracture
OMIM:615381	POLD1	5424	HP:0100679	Lack of skin elasticity
OMIM:615381	POLD1	5424	HP:0000006	Autosomal dominant inheritance
OMIM:615381	POLD1	5424	HP:0000520	Proptosis
OMIM:615381	POLD1	5424	HP:0000678	Dental crowding
OMIM:615381	POLD1	5424	HP:0000347	Micrognathia
OMIM:615381	POLD1	5424	HP:0002910	Elevated hepatic transaminases
OMIM:615381	POLD1	5424	HP:0000028	Cryptorchidism
OMIM:615381	POLD1	5424	HP:0000444	Convex nasal ridge
OMIM:615381	POLD1	5424	HP:0000160	Narrow mouth
OMIM:615381	POLD1	5424	HP:0001397	Hepatic steatosis
OMIM:615381	POLD1	5424	HP:0000135	Hypogonadism
OMIM:615381	POLD1	5424	HP:0000819	Diabetes mellitus
OMIM:615381	POLD1	5424	HP:0002808	Kyphosis
OMIM:615381	POLD1	5424	HP:0009125	Lipodystrophy
OMIM:613002	TRAF3	7187	HP:0012302	Herpes simplex encephalitis
OMIM:613002	TICAM1	148022	HP:0012302	Herpes simplex encephalitis
OMIM:613002	TBK1	29110	HP:0012302	Herpes simplex encephalitis
OMIM:613002	UNC93B1	81622	HP:0012302	Herpes simplex encephalitis
OMIM:613002	TLR3	7098	HP:0012302	Herpes simplex encephalitis
OMIM:269920	SLC17A5	26503	HP:0001010	Hypopigmentation of the skin
OMIM:269920	SLC17A5	26503	HP:0001541	Ascites
OMIM:269920	SLC17A5	26503	HP:0001635	Congestive heart failure
OMIM:269920	SLC17A5	26503	HP:0001250	Seizures
OMIM:269920	SLC17A5	26503	HP:0000007	Autosomal recessive inheritance
OMIM:269920	SLC17A5	26503	HP:0001622	Premature birth
OMIM:269920	SLC17A5	26503	HP:0003819	Death in childhood
OMIM:269920	SLC17A5	26503	HP:0000100	Nephrotic syndrome
OMIM:269920	SLC17A5	26503	HP:0001263	Global developmental delay
OMIM:269920	SLC17A5	26503	HP:0000212	Gingival overgrowth
OMIM:269920	SLC17A5	26503	HP:0002059	Cerebral atrophy
OMIM:269920	SLC17A5	26503	HP:0000463	Anteverted nares
OMIM:269920	SLC17A5	26503	HP:0000286	Epicanthus
OMIM:269920	SLC17A5	26503	HP:0000765	Abnormality of the thorax
OMIM:269920	SLC17A5	26503	HP:0001252	Muscular hypotonia
OMIM:269920	SLC17A5	26503	HP:0001760	Abnormality of the foot
OMIM:269920	SLC17A5	26503	HP:0001508	Failure to thrive
OMIM:269920	SLC17A5	26503	HP:0001640	Cardiomegaly
OMIM:269920	SLC17A5	26503	HP:0000218	High palate
OMIM:269920	SLC17A5	26503	HP:0001744	Splenomegaly
OMIM:269920	SLC17A5	26503	HP:0001789	Hydrops fetalis
OMIM:269920	SLC17A5	26503	HP:0000238	Hydrocephalus
OMIM:269920	SLC17A5	26503	HP:0000938	Osteopenia
OMIM:269920	SLC17A5	26503	HP:0000280	Coarse facial features
OMIM:269920	SLC17A5	26503	HP:0000639	Nystagmus
OMIM:269920	SLC17A5	26503	HP:0002240	Hepatomegaly
OMIM:269920	SLC17A5	26503	HP:0003025	Metaphyseal irregularity
OMIM:269920	SLC17A5	26503	HP:0000508	Ptosis
OMIM:269920	SLC17A5	26503	HP:0002908	Conjugated hyperbilirubinemia
OMIM:217000	C4A	720	HP:0000007	Autosomal recessive inheritance
OMIM:217000	C4A	720	HP:0000979	Purpura
OMIM:217000	C4A	720	HP:0002725	Systemic lupus erythematosus
OMIM:217000	C4B	721	HP:0000007	Autosomal recessive inheritance
OMIM:217000	C4B	721	HP:0000979	Purpura
OMIM:217000	C4B	721	HP:0002725	Systemic lupus erythematosus
OMIM:217000	SERPING1	710	HP:0000007	Autosomal recessive inheritance
OMIM:217000	SERPING1	710	HP:0000979	Purpura
OMIM:217000	SERPING1	710	HP:0002725	Systemic lupus erythematosus
OMIM:217000	C1QA	712	HP:0000007	Autosomal recessive inheritance
OMIM:217000	C1QA	712	HP:0000979	Purpura
OMIM:217000	C1QA	712	HP:0002725	Systemic lupus erythematosus
OMIM:217000	C1QB	713	HP:0000007	Autosomal recessive inheritance
OMIM:217000	C1QB	713	HP:0000979	Purpura
OMIM:217000	C1QB	713	HP:0002725	Systemic lupus erythematosus
OMIM:217000	C1QC	714	HP:0000007	Autosomal recessive inheritance
OMIM:217000	C1QC	714	HP:0000979	Purpura
OMIM:217000	C1QC	714	HP:0002725	Systemic lupus erythematosus
OMIM:217000	C1R	715	HP:0000007	Autosomal recessive inheritance
OMIM:217000	C1R	715	HP:0000979	Purpura
OMIM:217000	C1R	715	HP:0002725	Systemic lupus erythematosus
OMIM:217000	C1S	716	HP:0000007	Autosomal recessive inheritance
OMIM:217000	C1S	716	HP:0000979	Purpura
OMIM:217000	C1S	716	HP:0002725	Systemic lupus erythematosus
OMIM:217000	C2	717	HP:0000007	Autosomal recessive inheritance
OMIM:217000	C2	717	HP:0000979	Purpura
OMIM:217000	C2	717	HP:0002725	Systemic lupus erythematosus
OMIM:613179	PNP	4860	HP:0001252	Muscular hypotonia
OMIM:613179	PNP	4860	HP:0000010	Recurrent urinary tract infections
OMIM:613179	PNP	4860	HP:0000007	Autosomal recessive inheritance
OMIM:613179	PNP	4860	HP:0002718	Recurrent bacterial infections
OMIM:613179	PNP	4860	HP:0000246	Sinusitis
OMIM:613179	PNP	4860	HP:0001337	Tremor
OMIM:613179	PNP	4860	HP:0001508	Failure to thrive
OMIM:613179	PNP	4860	HP:0001249	Intellectual disability
OMIM:613179	PNP	4860	HP:0001744	Splenomegaly
OMIM:613179	PNP	4860	HP:0002665	Lymphoma
OMIM:613179	PNP	4860	HP:0000388	Otitis media
OMIM:613179	PNP	4860	HP:0004429	Recurrent viral infections
OMIM:613179	PNP	4860	HP:0001270	Motor delay
OMIM:613179	PNP	4860	HP:0002788	Recurrent upper respiratory tract infections
OMIM:613179	PNP	4860	HP:0001251	Ataxia
OMIM:613179	PNP	4860	HP:0000708	Behavioral abnormality
OMIM:613179	PNP	4860	HP:0002783	Recurrent lower respiratory tract infections
OMIM:613179	PNP	4860	HP:0002090	Pneumonia
OMIM:613179	PNP	4860	HP:0005372	Abnormality of B cell physiology
OMIM:616452	CARD11	84433	HP:0001744	Splenomegaly
OMIM:616452	CARD11	84433	HP:0002719	Recurrent infections
OMIM:600513	CRH	1392	HP:0001250	Seizures
OMIM:600513	CRH	1392	HP:0003621	Juvenile onset
OMIM:600513	CRH	1392	HP:0001249	Intellectual disability
OMIM:600513	CRH	1392	HP:0003829	Incomplete penetrance
OMIM:600513	CRH	1392	HP:0007359	Focal seizures
OMIM:600513	CRH	1392	HP:0000006	Autosomal dominant inheritance
OMIM:600513	CRH	1392	HP:0000708	Behavioral abnormality
OMIM:600513	CHRNA4	1137	HP:0001250	Seizures
OMIM:600513	CHRNA4	1137	HP:0003621	Juvenile onset
OMIM:600513	CHRNA4	1137	HP:0001249	Intellectual disability
OMIM:600513	CHRNA4	1137	HP:0003829	Incomplete penetrance
OMIM:600513	CHRNA4	1137	HP:0007359	Focal seizures
OMIM:600513	CHRNA4	1137	HP:0000006	Autosomal dominant inheritance
OMIM:600513	CHRNA4	1137	HP:0000708	Behavioral abnormality
OMIM:600513	DEPDC5	9681	HP:0001250	Seizures
OMIM:600513	DEPDC5	9681	HP:0003621	Juvenile onset
OMIM:600513	DEPDC5	9681	HP:0001249	Intellectual disability
OMIM:600513	DEPDC5	9681	HP:0003829	Incomplete penetrance
OMIM:600513	DEPDC5	9681	HP:0007359	Focal seizures
OMIM:600513	DEPDC5	9681	HP:0000006	Autosomal dominant inheritance
OMIM:600513	DEPDC5	9681	HP:0000708	Behavioral abnormality
OMIM:600513	CHRNB2	1141	HP:0001250	Seizures
OMIM:600513	CHRNB2	1141	HP:0003621	Juvenile onset
OMIM:600513	CHRNB2	1141	HP:0001249	Intellectual disability
OMIM:600513	CHRNB2	1141	HP:0003829	Incomplete penetrance
OMIM:600513	CHRNB2	1141	HP:0007359	Focal seizures
OMIM:600513	CHRNB2	1141	HP:0000006	Autosomal dominant inheritance
OMIM:600513	CHRNB2	1141	HP:0000708	Behavioral abnormality
OMIM:600513	KCNT1	57582	HP:0001250	Seizures
OMIM:600513	KCNT1	57582	HP:0003621	Juvenile onset
OMIM:600513	KCNT1	57582	HP:0001249	Intellectual disability
OMIM:600513	KCNT1	57582	HP:0003829	Incomplete penetrance
OMIM:600513	KCNT1	57582	HP:0007359	Focal seizures
OMIM:600513	KCNT1	57582	HP:0000006	Autosomal dominant inheritance
OMIM:600513	KCNT1	57582	HP:0000708	Behavioral abnormality
OMIM:600513	CHRNA2	1135	HP:0001250	Seizures
OMIM:600513	CHRNA2	1135	HP:0003621	Juvenile onset
OMIM:600513	CHRNA2	1135	HP:0001249	Intellectual disability
OMIM:600513	CHRNA2	1135	HP:0003829	Incomplete penetrance
OMIM:600513	CHRNA2	1135	HP:0007359	Focal seizures
OMIM:600513	CHRNA2	1135	HP:0000006	Autosomal dominant inheritance
OMIM:600513	CHRNA2	1135	HP:0000708	Behavioral abnormality
OMIM:132000	COL7A1	1294	HP:0002164	Nail dysplasia
OMIM:132000	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
OMIM:132000	COL7A1	1294	HP:0001030	Fragile skin
OMIM:132000	COL7A1	1294	HP:0008404	Nail dystrophy
ORPHANET:3197	SLC6A5	9152	HP:0001376	Limitation of joint mobility
ORPHANET:3197	SLC6A5	9152	HP:0001276	Hypertonia
ORPHANET:3197	SLC6A5	9152	HP:0001537	Umbilical hernia
ORPHANET:3197	SLC6A5	9152	HP:0001250	Seizures
ORPHANET:3197	SLC6A5	9152	HP:0001347	Hyperreflexia
ORPHANET:3197	SLC6A5	9152	HP:0002360	Sleep disturbance
ORPHANET:3197	SLC6A5	9152	HP:0001373	Joint dislocation
ORPHANET:3197	SLC6A5	9152	HP:0100543	Cognitive impairment
ORPHANET:3197	SLC6A5	9152	HP:0003272	Abnormality of the hip bone
ORPHANET:3197	SLC6A5	9152	HP:0001288	Gait disturbance
ORPHANET:3197	SLC6A5	9152	HP:0004305	Involuntary movements
ORPHANET:3197	SLC6A5	9152	HP:0002311	Incoordination
ORPHANET:3197	GPHN	10243	HP:0001376	Limitation of joint mobility
ORPHANET:3197	GPHN	10243	HP:0001276	Hypertonia
ORPHANET:3197	GPHN	10243	HP:0001537	Umbilical hernia
ORPHANET:3197	GPHN	10243	HP:0001250	Seizures
ORPHANET:3197	GPHN	10243	HP:0001347	Hyperreflexia
ORPHANET:3197	GPHN	10243	HP:0002360	Sleep disturbance
ORPHANET:3197	GPHN	10243	HP:0001373	Joint dislocation
ORPHANET:3197	GPHN	10243	HP:0100543	Cognitive impairment
ORPHANET:3197	GPHN	10243	HP:0003272	Abnormality of the hip bone
ORPHANET:3197	GPHN	10243	HP:0001288	Gait disturbance
ORPHANET:3197	GPHN	10243	HP:0004305	Involuntary movements
ORPHANET:3197	GPHN	10243	HP:0002311	Incoordination
ORPHANET:3197	GLRA1	2741	HP:0001376	Limitation of joint mobility
ORPHANET:3197	GLRA1	2741	HP:0001276	Hypertonia
ORPHANET:3197	GLRA1	2741	HP:0001537	Umbilical hernia
ORPHANET:3197	GLRA1	2741	HP:0001250	Seizures
ORPHANET:3197	GLRA1	2741	HP:0001347	Hyperreflexia
ORPHANET:3197	GLRA1	2741	HP:0002360	Sleep disturbance
ORPHANET:3197	GLRA1	2741	HP:0001373	Joint dislocation
ORPHANET:3197	GLRA1	2741	HP:0100543	Cognitive impairment
ORPHANET:3197	GLRA1	2741	HP:0003272	Abnormality of the hip bone
ORPHANET:3197	GLRA1	2741	HP:0001288	Gait disturbance
ORPHANET:3197	GLRA1	2741	HP:0004305	Involuntary movements
ORPHANET:3197	GLRA1	2741	HP:0002311	Incoordination
ORPHANET:3197	GLRB	2743	HP:0001376	Limitation of joint mobility
ORPHANET:3197	GLRB	2743	HP:0001276	Hypertonia
ORPHANET:3197	GLRB	2743	HP:0001537	Umbilical hernia
ORPHANET:3197	GLRB	2743	HP:0001250	Seizures
ORPHANET:3197	GLRB	2743	HP:0001347	Hyperreflexia
ORPHANET:3197	GLRB	2743	HP:0002360	Sleep disturbance
ORPHANET:3197	GLRB	2743	HP:0001373	Joint dislocation
ORPHANET:3197	GLRB	2743	HP:0100543	Cognitive impairment
ORPHANET:3197	GLRB	2743	HP:0003272	Abnormality of the hip bone
ORPHANET:3197	GLRB	2743	HP:0001288	Gait disturbance
ORPHANET:3197	GLRB	2743	HP:0004305	Involuntary movements
ORPHANET:3197	GLRB	2743	HP:0002311	Incoordination
OMIM:613809	RLBP1	6017	HP:0000505	Visual impairment
OMIM:613809	RLBP1	6017	HP:0001123	Visual field defect
OMIM:613809	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613809	RLBP1	6017	HP:0000512	Abnormal electroretinogram
OMIM:613809	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613809	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613809	SPATA7	55812	HP:0001123	Visual field defect
OMIM:613809	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613809	SPATA7	55812	HP:0000512	Abnormal electroretinogram
OMIM:613809	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613809	ARL6	84100	HP:0000505	Visual impairment
OMIM:613809	ARL6	84100	HP:0001123	Visual field defect
OMIM:613809	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613809	ARL6	84100	HP:0000512	Abnormal electroretinogram
OMIM:613809	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613809	CERKL	375298	HP:0000505	Visual impairment
OMIM:613809	CERKL	375298	HP:0001123	Visual field defect
OMIM:613809	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613809	CERKL	375298	HP:0000512	Abnormal electroretinogram
OMIM:613809	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613809	PRPF31	26121	HP:0000505	Visual impairment
OMIM:613809	PRPF31	26121	HP:0001123	Visual field defect
OMIM:613809	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613809	PRPF31	26121	HP:0000512	Abnormal electroretinogram
OMIM:613809	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613809	TTC8	123016	HP:0000505	Visual impairment
OMIM:613809	TTC8	123016	HP:0001123	Visual field defect
OMIM:613809	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613809	TTC8	123016	HP:0000512	Abnormal electroretinogram
OMIM:613809	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613809	PROM1	8842	HP:0000505	Visual impairment
OMIM:613809	PROM1	8842	HP:0001123	Visual field defect
OMIM:613809	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613809	PROM1	8842	HP:0000512	Abnormal electroretinogram
OMIM:613809	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613809	LRAT	9227	HP:0000505	Visual impairment
OMIM:613809	LRAT	9227	HP:0001123	Visual field defect
OMIM:613809	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613809	LRAT	9227	HP:0000512	Abnormal electroretinogram
OMIM:613809	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613809	IFT140	9742	HP:0000505	Visual impairment
OMIM:613809	IFT140	9742	HP:0001123	Visual field defect
OMIM:613809	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613809	IFT140	9742	HP:0000512	Abnormal electroretinogram
OMIM:613809	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613809	BEST1	7439	HP:0000505	Visual impairment
OMIM:613809	BEST1	7439	HP:0001123	Visual field defect
OMIM:613809	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613809	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:613809	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613809	NEK2	4751	HP:0000505	Visual impairment
OMIM:613809	NEK2	4751	HP:0001123	Visual field defect
OMIM:613809	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613809	NEK2	4751	HP:0000512	Abnormal electroretinogram
OMIM:613809	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613809	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:613809	ARL2BP	23568	HP:0001123	Visual field defect
OMIM:613809	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613809	ARL2BP	23568	HP:0000512	Abnormal electroretinogram
OMIM:613809	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613809	NR2E3	10002	HP:0000505	Visual impairment
OMIM:613809	NR2E3	10002	HP:0001123	Visual field defect
OMIM:613809	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613809	NR2E3	10002	HP:0000512	Abnormal electroretinogram
OMIM:613809	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613809	EYS	346007	HP:0000505	Visual impairment
OMIM:613809	EYS	346007	HP:0001123	Visual field defect
OMIM:613809	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613809	EYS	346007	HP:0000512	Abnormal electroretinogram
OMIM:613809	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613809	MAK	4117	HP:0000505	Visual impairment
OMIM:613809	MAK	4117	HP:0001123	Visual field defect
OMIM:613809	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613809	MAK	4117	HP:0000512	Abnormal electroretinogram
OMIM:613809	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613809	SAG	6295	HP:0000505	Visual impairment
OMIM:613809	SAG	6295	HP:0001123	Visual field defect
OMIM:613809	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613809	SAG	6295	HP:0000512	Abnormal electroretinogram
OMIM:613809	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613809	ABCA4	24	HP:0000505	Visual impairment
OMIM:613809	ABCA4	24	HP:0001123	Visual field defect
OMIM:613809	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613809	ABCA4	24	HP:0000512	Abnormal electroretinogram
OMIM:613809	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613809	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613809	PDE6A	5145	HP:0001123	Visual field defect
OMIM:613809	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613809	PDE6A	5145	HP:0000512	Abnormal electroretinogram
OMIM:613809	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613809	PDE6G	5148	HP:0000505	Visual impairment
OMIM:613809	PDE6G	5148	HP:0001123	Visual field defect
OMIM:613809	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613809	PDE6G	5148	HP:0000512	Abnormal electroretinogram
OMIM:613809	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613809	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613809	IMPDH1	3614	HP:0001123	Visual field defect
OMIM:613809	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613809	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
OMIM:613809	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613809	OFD1	8481	HP:0000505	Visual impairment
OMIM:613809	OFD1	8481	HP:0001123	Visual field defect
OMIM:613809	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613809	OFD1	8481	HP:0000512	Abnormal electroretinogram
OMIM:613809	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613809	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613809	GUCA1B	2979	HP:0001123	Visual field defect
OMIM:613809	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613809	GUCA1B	2979	HP:0000512	Abnormal electroretinogram
OMIM:613809	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613809	NRL	4901	HP:0000505	Visual impairment
OMIM:613809	NRL	4901	HP:0001123	Visual field defect
OMIM:613809	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613809	NRL	4901	HP:0000512	Abnormal electroretinogram
OMIM:613809	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613809	PDE6B	5158	HP:0000505	Visual impairment
OMIM:613809	PDE6B	5158	HP:0001123	Visual field defect
OMIM:613809	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613809	PDE6B	5158	HP:0000512	Abnormal electroretinogram
OMIM:613809	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613809	KLHL7	55975	HP:0000505	Visual impairment
OMIM:613809	KLHL7	55975	HP:0001123	Visual field defect
OMIM:613809	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613809	KLHL7	55975	HP:0000512	Abnormal electroretinogram
OMIM:613809	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613809	PRPF4	9128	HP:0000505	Visual impairment
OMIM:613809	PRPF4	9128	HP:0001123	Visual field defect
OMIM:613809	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613809	PRPF4	9128	HP:0000512	Abnormal electroretinogram
OMIM:613809	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613809	PRPF3	9129	HP:0000505	Visual impairment
OMIM:613809	PRPF3	9129	HP:0001123	Visual field defect
OMIM:613809	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613809	PRPF3	9129	HP:0000512	Abnormal electroretinogram
OMIM:613809	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613809	FAM161A	84140	HP:0000505	Visual impairment
OMIM:613809	FAM161A	84140	HP:0001123	Visual field defect
OMIM:613809	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613809	FAM161A	84140	HP:0000512	Abnormal electroretinogram
OMIM:613809	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613809	IFT172	26160	HP:0000505	Visual impairment
OMIM:613809	IFT172	26160	HP:0001123	Visual field defect
OMIM:613809	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613809	IFT172	26160	HP:0000512	Abnormal electroretinogram
OMIM:613809	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613809	KIZ	55857	HP:0000505	Visual impairment
OMIM:613809	KIZ	55857	HP:0001123	Visual field defect
OMIM:613809	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613809	KIZ	55857	HP:0000512	Abnormal electroretinogram
OMIM:613809	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613809	CDHR1	92211	HP:0000505	Visual impairment
OMIM:613809	CDHR1	92211	HP:0001123	Visual field defect
OMIM:613809	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613809	CDHR1	92211	HP:0000512	Abnormal electroretinogram
OMIM:613809	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613809	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613809	ZNF408	79797	HP:0001123	Visual field defect
OMIM:613809	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613809	ZNF408	79797	HP:0000512	Abnormal electroretinogram
OMIM:613809	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613809	RBP3	5949	HP:0000505	Visual impairment
OMIM:613809	RBP3	5949	HP:0001123	Visual field defect
OMIM:613809	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613809	RBP3	5949	HP:0000512	Abnormal electroretinogram
OMIM:613809	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613809	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:613809	HGSNAT	138050	HP:0001123	Visual field defect
OMIM:613809	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613809	HGSNAT	138050	HP:0000512	Abnormal electroretinogram
OMIM:613809	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613809	FSCN2	25794	HP:0000505	Visual impairment
OMIM:613809	FSCN2	25794	HP:0001123	Visual field defect
OMIM:613809	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613809	FSCN2	25794	HP:0000512	Abnormal electroretinogram
OMIM:613809	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613809	PRCD	768206	HP:0000505	Visual impairment
OMIM:613809	PRCD	768206	HP:0001123	Visual field defect
OMIM:613809	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613809	PRCD	768206	HP:0000512	Abnormal electroretinogram
OMIM:613809	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613809	BBS2	583	HP:0000505	Visual impairment
OMIM:613809	BBS2	583	HP:0001123	Visual field defect
OMIM:613809	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613809	BBS2	583	HP:0000512	Abnormal electroretinogram
OMIM:613809	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613809	RDH12	145226	HP:0000505	Visual impairment
OMIM:613809	RDH12	145226	HP:0001123	Visual field defect
OMIM:613809	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613809	RDH12	145226	HP:0000512	Abnormal electroretinogram
OMIM:613809	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613809	PRPH2	5961	HP:0000505	Visual impairment
OMIM:613809	PRPH2	5961	HP:0001123	Visual field defect
OMIM:613809	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613809	PRPH2	5961	HP:0000512	Abnormal electroretinogram
OMIM:613809	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613809	DHDDS	79947	HP:0000505	Visual impairment
OMIM:613809	DHDDS	79947	HP:0001123	Visual field defect
OMIM:613809	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613809	DHDDS	79947	HP:0000512	Abnormal electroretinogram
OMIM:613809	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613809	ROM1	6094	HP:0000505	Visual impairment
OMIM:613809	ROM1	6094	HP:0001123	Visual field defect
OMIM:613809	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613809	ROM1	6094	HP:0000512	Abnormal electroretinogram
OMIM:613809	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613809	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613809	C2ORF71	388939	HP:0001123	Visual field defect
OMIM:613809	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613809	C2ORF71	388939	HP:0000512	Abnormal electroretinogram
OMIM:613809	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613809	RP9	6100	HP:0000505	Visual impairment
OMIM:613809	RP9	6100	HP:0001123	Visual field defect
OMIM:613809	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613809	RP9	6100	HP:0000512	Abnormal electroretinogram
OMIM:613809	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613809	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613809	PRPF6	24148	HP:0001123	Visual field defect
OMIM:613809	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613809	PRPF6	24148	HP:0000512	Abnormal electroretinogram
OMIM:613809	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613809	RP1	6101	HP:0000505	Visual impairment
OMIM:613809	RP1	6101	HP:0001123	Visual field defect
OMIM:613809	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613809	RP1	6101	HP:0000512	Abnormal electroretinogram
OMIM:613809	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613809	RP2	6102	HP:0000505	Visual impairment
OMIM:613809	RP2	6102	HP:0001123	Visual field defect
OMIM:613809	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613809	RP2	6102	HP:0000512	Abnormal electroretinogram
OMIM:613809	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613809	RPGR	6103	HP:0000505	Visual impairment
OMIM:613809	RPGR	6103	HP:0001123	Visual field defect
OMIM:613809	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613809	RPGR	6103	HP:0000512	Abnormal electroretinogram
OMIM:613809	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613809	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:613809	SEMA4A	64218	HP:0001123	Visual field defect
OMIM:613809	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613809	SEMA4A	64218	HP:0000512	Abnormal electroretinogram
OMIM:613809	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613809	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:613809	C8ORF37	157657	HP:0001123	Visual field defect
OMIM:613809	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613809	C8ORF37	157657	HP:0000512	Abnormal electroretinogram
OMIM:613809	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613809	IDH3B	3420	HP:0000505	Visual impairment
OMIM:613809	IDH3B	3420	HP:0001123	Visual field defect
OMIM:613809	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613809	IDH3B	3420	HP:0000512	Abnormal electroretinogram
OMIM:613809	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613809	MERTK	10461	HP:0000505	Visual impairment
OMIM:613809	MERTK	10461	HP:0001123	Visual field defect
OMIM:613809	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613809	MERTK	10461	HP:0000512	Abnormal electroretinogram
OMIM:613809	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613809	PRPF8	10594	HP:0000505	Visual impairment
OMIM:613809	PRPF8	10594	HP:0001123	Visual field defect
OMIM:613809	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613809	PRPF8	10594	HP:0000512	Abnormal electroretinogram
OMIM:613809	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613809	TOPORS	10210	HP:0000505	Visual impairment
OMIM:613809	TOPORS	10210	HP:0001123	Visual field defect
OMIM:613809	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613809	TOPORS	10210	HP:0000512	Abnormal electroretinogram
OMIM:613809	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613809	USH2A	7399	HP:0000505	Visual impairment
OMIM:613809	USH2A	7399	HP:0001123	Visual field defect
OMIM:613809	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613809	USH2A	7399	HP:0000512	Abnormal electroretinogram
OMIM:613809	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613809	RPE65	6121	HP:0000505	Visual impairment
OMIM:613809	RPE65	6121	HP:0001123	Visual field defect
OMIM:613809	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613809	RPE65	6121	HP:0000512	Abnormal electroretinogram
OMIM:613809	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613809	CLRN1	7401	HP:0000505	Visual impairment
OMIM:613809	CLRN1	7401	HP:0001123	Visual field defect
OMIM:613809	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613809	CLRN1	7401	HP:0000512	Abnormal electroretinogram
OMIM:613809	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613809	CNGB1	1258	HP:0000505	Visual impairment
OMIM:613809	CNGB1	1258	HP:0001123	Visual field defect
OMIM:613809	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613809	CNGB1	1258	HP:0000512	Abnormal electroretinogram
OMIM:613809	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613809	RGR	5995	HP:0000505	Visual impairment
OMIM:613809	RGR	5995	HP:0001123	Visual field defect
OMIM:613809	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613809	RGR	5995	HP:0000512	Abnormal electroretinogram
OMIM:613809	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613809	CNGA1	1259	HP:0000505	Visual impairment
OMIM:613809	CNGA1	1259	HP:0001123	Visual field defect
OMIM:613809	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613809	CNGA1	1259	HP:0000512	Abnormal electroretinogram
OMIM:613809	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613809	TUB	7275	HP:0000505	Visual impairment
OMIM:613809	TUB	7275	HP:0001123	Visual field defect
OMIM:613809	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613809	TUB	7275	HP:0000512	Abnormal electroretinogram
OMIM:613809	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613809	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:613809	SNRNP200	23020	HP:0001123	Visual field defect
OMIM:613809	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613809	SNRNP200	23020	HP:0000512	Abnormal electroretinogram
OMIM:613809	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613809	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:613809	SLC7A14	57709	HP:0001123	Visual field defect
OMIM:613809	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613809	SLC7A14	57709	HP:0000512	Abnormal electroretinogram
OMIM:613809	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613809	TULP1	7287	HP:0000505	Visual impairment
OMIM:613809	TULP1	7287	HP:0001123	Visual field defect
OMIM:613809	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613809	TULP1	7287	HP:0000512	Abnormal electroretinogram
OMIM:613809	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613809	RHO	6010	HP:0000505	Visual impairment
OMIM:613809	RHO	6010	HP:0001123	Visual field defect
OMIM:613809	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613809	RHO	6010	HP:0000512	Abnormal electroretinogram
OMIM:613809	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613809	CA4	762	HP:0000505	Visual impairment
OMIM:613809	CA4	762	HP:0001123	Visual field defect
OMIM:613809	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613809	CA4	762	HP:0000512	Abnormal electroretinogram
OMIM:613809	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613809	CRB1	23418	HP:0000505	Visual impairment
OMIM:613809	CRB1	23418	HP:0001123	Visual field defect
OMIM:613809	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613809	CRB1	23418	HP:0000512	Abnormal electroretinogram
OMIM:613809	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613809	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613809	IMPG2	50939	HP:0001123	Visual field defect
OMIM:613809	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613809	IMPG2	50939	HP:0000512	Abnormal electroretinogram
OMIM:613809	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613809	ZNF513	130557	HP:0000505	Visual impairment
OMIM:613809	ZNF513	130557	HP:0001123	Visual field defect
OMIM:613809	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613809	ZNF513	130557	HP:0000512	Abnormal electroretinogram
OMIM:613809	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613809	CRX	1406	HP:0000505	Visual impairment
OMIM:613809	CRX	1406	HP:0001123	Visual field defect
OMIM:613809	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613809	CRX	1406	HP:0000512	Abnormal electroretinogram
OMIM:613809	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:613809	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613809	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:615207	IL21R	50615	HP:0011108	Recurrent sinusitis
OMIM:615207	IL21R	50615	HP:0000007	Autosomal recessive inheritance
OMIM:615207	IL21R	50615	HP:0001394	Cirrhosis
OMIM:615207	IL21R	50615	HP:0001399	Hepatic failure
OMIM:615207	IL21R	50615	HP:0001508	Failure to thrive
OMIM:615207	IL21R	50615	HP:0002721	Immunodeficiency
OMIM:615207	IL21R	50615	HP:0002090	Pneumonia
OMIM:615207	IL21R	50615	HP:0002110	Bronchiectasis
OMIM:615207	IL21R	50615	HP:0002028	Chronic diarrhea
OMIM:615351	POMT2	29954	HP:0001249	Intellectual disability
OMIM:615351	POMT2	29954	HP:0001252	Muscular hypotonia
OMIM:615351	POMT2	29954	HP:0001371	Flexion contracture
OMIM:615351	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615351	POMT2	29954	HP:0001263	Global developmental delay
OMIM:615351	POMT2	29954	HP:0000508	Ptosis
OMIM:615351	POMT2	29954	HP:0001250	Seizures
OMIM:615351	POMT2	29954	HP:0002421	Poor head control
OMIM:615351	POMT2	29954	HP:0003828	Variable expressivity
OMIM:615351	POMT2	29954	HP:0000486	Strabismus
OMIM:615351	POMT2	29954	HP:0011968	Feeding difficulties
OMIM:615351	POMT2	29954	HP:0000639	Nystagmus
OMIM:615351	POMT2	29954	HP:0001344	Absent speech
OMIM:615351	POMT2	29954	HP:0000518	Cataract
OMIM:615351	POMT2	29954	HP:0001657	Prolonged QT interval
OMIM:615351	POMT2	29954	HP:0003741	Congenital muscular dystrophy
OMIM:615351	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:615351	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:615351	POMT2	29954	HP:0000252	Microcephaly
OMIM:615351	POMT2	29954	HP:0001558	Decreased fetal movement
OMIM:615351	GMPPB	29925	HP:0001249	Intellectual disability
OMIM:615351	GMPPB	29925	HP:0001252	Muscular hypotonia
OMIM:615351	GMPPB	29925	HP:0001371	Flexion contracture
OMIM:615351	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615351	GMPPB	29925	HP:0001263	Global developmental delay
OMIM:615351	GMPPB	29925	HP:0000508	Ptosis
OMIM:615351	GMPPB	29925	HP:0001250	Seizures
OMIM:615351	GMPPB	29925	HP:0002421	Poor head control
OMIM:615351	GMPPB	29925	HP:0003828	Variable expressivity
OMIM:615351	GMPPB	29925	HP:0000486	Strabismus
OMIM:615351	GMPPB	29925	HP:0011968	Feeding difficulties
OMIM:615351	GMPPB	29925	HP:0000639	Nystagmus
OMIM:615351	GMPPB	29925	HP:0001344	Absent speech
OMIM:615351	GMPPB	29925	HP:0000518	Cataract
OMIM:615351	GMPPB	29925	HP:0001657	Prolonged QT interval
OMIM:615351	GMPPB	29925	HP:0003741	Congenital muscular dystrophy
OMIM:615351	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:615351	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:615351	GMPPB	29925	HP:0000252	Microcephaly
OMIM:615351	GMPPB	29925	HP:0001558	Decreased fetal movement
OMIM:615351	POMGNT1	55624	HP:0001249	Intellectual disability
OMIM:615351	POMGNT1	55624	HP:0001252	Muscular hypotonia
OMIM:615351	POMGNT1	55624	HP:0001371	Flexion contracture
OMIM:615351	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615351	POMGNT1	55624	HP:0001263	Global developmental delay
OMIM:615351	POMGNT1	55624	HP:0000508	Ptosis
OMIM:615351	POMGNT1	55624	HP:0001250	Seizures
OMIM:615351	POMGNT1	55624	HP:0002421	Poor head control
OMIM:615351	POMGNT1	55624	HP:0003828	Variable expressivity
OMIM:615351	POMGNT1	55624	HP:0000486	Strabismus
OMIM:615351	POMGNT1	55624	HP:0011968	Feeding difficulties
OMIM:615351	POMGNT1	55624	HP:0000639	Nystagmus
OMIM:615351	POMGNT1	55624	HP:0001344	Absent speech
OMIM:615351	POMGNT1	55624	HP:0000518	Cataract
OMIM:615351	POMGNT1	55624	HP:0001657	Prolonged QT interval
OMIM:615351	POMGNT1	55624	HP:0003741	Congenital muscular dystrophy
OMIM:615351	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:615351	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:615351	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:615351	POMGNT1	55624	HP:0001558	Decreased fetal movement
OMIM:615351	POMT1	10585	HP:0001249	Intellectual disability
OMIM:615351	POMT1	10585	HP:0001252	Muscular hypotonia
OMIM:615351	POMT1	10585	HP:0001371	Flexion contracture
OMIM:615351	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615351	POMT1	10585	HP:0001263	Global developmental delay
OMIM:615351	POMT1	10585	HP:0000508	Ptosis
OMIM:615351	POMT1	10585	HP:0001250	Seizures
OMIM:615351	POMT1	10585	HP:0002421	Poor head control
OMIM:615351	POMT1	10585	HP:0003828	Variable expressivity
OMIM:615351	POMT1	10585	HP:0000486	Strabismus
OMIM:615351	POMT1	10585	HP:0011968	Feeding difficulties
OMIM:615351	POMT1	10585	HP:0000639	Nystagmus
OMIM:615351	POMT1	10585	HP:0001344	Absent speech
OMIM:615351	POMT1	10585	HP:0000518	Cataract
OMIM:615351	POMT1	10585	HP:0001657	Prolonged QT interval
OMIM:615351	POMT1	10585	HP:0003741	Congenital muscular dystrophy
OMIM:615351	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:615351	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:615351	POMT1	10585	HP:0000252	Microcephaly
OMIM:615351	POMT1	10585	HP:0001558	Decreased fetal movement
OMIM:615351	FKRP	79147	HP:0001249	Intellectual disability
OMIM:615351	FKRP	79147	HP:0001252	Muscular hypotonia
OMIM:615351	FKRP	79147	HP:0001371	Flexion contracture
OMIM:615351	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615351	FKRP	79147	HP:0001263	Global developmental delay
OMIM:615351	FKRP	79147	HP:0000508	Ptosis
OMIM:615351	FKRP	79147	HP:0001250	Seizures
OMIM:615351	FKRP	79147	HP:0002421	Poor head control
OMIM:615351	FKRP	79147	HP:0003828	Variable expressivity
OMIM:615351	FKRP	79147	HP:0000486	Strabismus
OMIM:615351	FKRP	79147	HP:0011968	Feeding difficulties
OMIM:615351	FKRP	79147	HP:0000639	Nystagmus
OMIM:615351	FKRP	79147	HP:0001344	Absent speech
OMIM:615351	FKRP	79147	HP:0000518	Cataract
OMIM:615351	FKRP	79147	HP:0001657	Prolonged QT interval
OMIM:615351	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:615351	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:615351	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:615351	FKRP	79147	HP:0000252	Microcephaly
OMIM:615351	FKRP	79147	HP:0001558	Decreased fetal movement
OMIM:615351	LARGE	9215	HP:0001249	Intellectual disability
OMIM:615351	LARGE	9215	HP:0001252	Muscular hypotonia
OMIM:615351	LARGE	9215	HP:0001371	Flexion contracture
OMIM:615351	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615351	LARGE	9215	HP:0001263	Global developmental delay
OMIM:615351	LARGE	9215	HP:0000508	Ptosis
OMIM:615351	LARGE	9215	HP:0001250	Seizures
OMIM:615351	LARGE	9215	HP:0002421	Poor head control
OMIM:615351	LARGE	9215	HP:0003828	Variable expressivity
OMIM:615351	LARGE	9215	HP:0000486	Strabismus
OMIM:615351	LARGE	9215	HP:0011968	Feeding difficulties
OMIM:615351	LARGE	9215	HP:0000639	Nystagmus
OMIM:615351	LARGE	9215	HP:0001344	Absent speech
OMIM:615351	LARGE	9215	HP:0000518	Cataract
OMIM:615351	LARGE	9215	HP:0001657	Prolonged QT interval
OMIM:615351	LARGE	9215	HP:0003741	Congenital muscular dystrophy
OMIM:615351	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:615351	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:615351	LARGE	9215	HP:0000252	Microcephaly
OMIM:615351	LARGE	9215	HP:0001558	Decreased fetal movement
OMIM:613953	IL17RC	84818	HP:0000007	Autosomal recessive inheritance
OMIM:613953	IL17RC	84818	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613953	STAT1	6772	HP:0000007	Autosomal recessive inheritance
OMIM:613953	STAT1	6772	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613953	IL17RA	23765	HP:0000007	Autosomal recessive inheritance
OMIM:613953	IL17RA	23765	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613953	CLEC7A	64581	HP:0000007	Autosomal recessive inheritance
OMIM:613953	CLEC7A	64581	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613953	TRAF3IP2	10758	HP:0000007	Autosomal recessive inheritance
OMIM:613953	TRAF3IP2	10758	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613953	IL17F	112744	HP:0000007	Autosomal recessive inheritance
OMIM:613953	IL17F	112744	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613953	CARD9	64170	HP:0000007	Autosomal recessive inheritance
OMIM:613953	CARD9	64170	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:300622	C1GALT1C1	29071	HP:0001877	Abnormality of erythrocytes
OMIM:300622	C1GALT1C1	29071	HP:0002960	Autoimmunity
OMIM:603358	BCS1L	617	HP:0003542	Increased serum pyruvate
OMIM:603358	BCS1L	617	HP:0010719	Abnormality of hair texture
OMIM:603358	BCS1L	617	HP:0001397	Hepatic steatosis
OMIM:603358	BCS1L	617	HP:0001511	Intrauterine growth retardation
OMIM:603358	BCS1L	617	HP:0011031	Abnormality of iron homeostasis
OMIM:603358	BCS1L	617	HP:0000091	Abnormality of the renal tubule
OMIM:603358	BCS1L	617	HP:0001319	Neonatal hypotonia
OMIM:603358	BCS1L	617	HP:0000365	Hearing impairment
OMIM:603358	BCS1L	617	HP:0003355	Aminoaciduria
OMIM:603358	BCS1L	617	HP:0001396	Cholestasis
OMIM:603358	BCS1L	617	HP:0001394	Cirrhosis
OMIM:610551	TRAF3	7187	HP:0005353	Susceptibility to herpesvirus
OMIM:610551	TRAF3	7187	HP:0012302	Herpes simplex encephalitis
OMIM:610551	TRAF3	7187	HP:0000007	Autosomal recessive inheritance
OMIM:610551	TICAM1	148022	HP:0005353	Susceptibility to herpesvirus
OMIM:610551	TICAM1	148022	HP:0012302	Herpes simplex encephalitis
OMIM:610551	TICAM1	148022	HP:0000007	Autosomal recessive inheritance
OMIM:610551	TBK1	29110	HP:0005353	Susceptibility to herpesvirus
OMIM:610551	TBK1	29110	HP:0012302	Herpes simplex encephalitis
OMIM:610551	TBK1	29110	HP:0000007	Autosomal recessive inheritance
OMIM:610551	UNC93B1	81622	HP:0005353	Susceptibility to herpesvirus
OMIM:610551	UNC93B1	81622	HP:0012302	Herpes simplex encephalitis
OMIM:610551	UNC93B1	81622	HP:0000007	Autosomal recessive inheritance
OMIM:610551	TLR3	7098	HP:0005353	Susceptibility to herpesvirus
OMIM:610551	TLR3	7098	HP:0012302	Herpes simplex encephalitis
OMIM:610551	TLR3	7098	HP:0000007	Autosomal recessive inheritance
OMIM:609886	UMOD	7369	HP:0000006	Autosomal dominant inheritance
OMIM:609886	UMOD	7369	HP:0000091	Abnormality of the renal tubule
OMIM:609886	UMOD	7369	HP:0002149	Hyperuricemia
OMIM:609886	UMOD	7369	HP:0000083	Renal insufficiency
OMIM:611722	PSAP	5660	HP:0000007	Autosomal recessive inheritance
OMIM:611722	PSAP	5660	HP:0002922	Increased CSF protein
OMIM:611722	PSAP	5660	HP:0003593	Infantile onset
OMIM:611722	PSAP	5660	HP:0002878	Respiratory failure
OMIM:611722	PSAP	5660	HP:0003819	Death in childhood
OMIM:611722	PSAP	5660	HP:0001265	Hyporeflexia
OMIM:611722	PSAP	5660	HP:0001276	Hypertonia
OMIM:611722	PSAP	5660	HP:0002871	Central apnea
OMIM:612376	PRKAR1A	5573	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	PRKAR1A	5573	HP:0004836	Acute promyelocytic leukemia
OMIM:612376	PRKAR1A	5573	HP:0001428	Somatic mutation
OMIM:612376	NPM1	4869	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	NPM1	4869	HP:0004836	Acute promyelocytic leukemia
OMIM:612376	NPM1	4869	HP:0001428	Somatic mutation
OMIM:612376	TBL1XR1	79718	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	TBL1XR1	79718	HP:0004836	Acute promyelocytic leukemia
OMIM:612376	TBL1XR1	79718	HP:0001428	Somatic mutation
OMIM:612376	ZBTB16	7704	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	ZBTB16	7704	HP:0004836	Acute promyelocytic leukemia
OMIM:612376	ZBTB16	7704	HP:0001428	Somatic mutation
OMIM:612376	STAT5B	6777	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	STAT5B	6777	HP:0004836	Acute promyelocytic leukemia
OMIM:612376	STAT5B	6777	HP:0001428	Somatic mutation
OMIM:612376	FIP1L1	81608	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	FIP1L1	81608	HP:0004836	Acute promyelocytic leukemia
OMIM:612376	FIP1L1	81608	HP:0001428	Somatic mutation
OMIM:612376	RARA	5914	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	RARA	5914	HP:0004836	Acute promyelocytic leukemia
OMIM:612376	RARA	5914	HP:0001428	Somatic mutation
OMIM:612376	PML	5371	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	PML	5371	HP:0004836	Acute promyelocytic leukemia
OMIM:612376	PML	5371	HP:0001428	Somatic mutation
OMIM:612376	NABP1	64859	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	NABP1	64859	HP:0004836	Acute promyelocytic leukemia
OMIM:612376	NABP1	64859	HP:0001428	Somatic mutation
OMIM:612376	NUMA1	4926	HP:0012135	Abnormality of cells of the granulocytic lineage
OMIM:612376	NUMA1	4926	HP:0004836	Acute promyelocytic leukemia
OMIM:612376	NUMA1	4926	HP:0001428	Somatic mutation
ORPHANET:99000	IMPG1	3617	HP:0001123	Visual field defect
ORPHANET:99000	IMPG1	3617	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:99000	IMPG1	3617	HP:0000541	Retinal detachment
ORPHANET:99000	IMPG1	3617	HP:0000551	Abnormality of color vision
ORPHANET:99000	IMPG1	3617	HP:0001139	Choroideremia
ORPHANET:99000	IMPG1	3617	HP:0000505	Visual impairment
ORPHANET:99000	IMPG1	3617	HP:0001103	Abnormality of the macula
ORPHANET:99000	PRPH2	5961	HP:0001123	Visual field defect
ORPHANET:99000	PRPH2	5961	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:99000	PRPH2	5961	HP:0000541	Retinal detachment
ORPHANET:99000	PRPH2	5961	HP:0000551	Abnormality of color vision
ORPHANET:99000	PRPH2	5961	HP:0001139	Choroideremia
ORPHANET:99000	PRPH2	5961	HP:0000505	Visual impairment
ORPHANET:99000	PRPH2	5961	HP:0001103	Abnormality of the macula
ORPHANET:99000	IMPG2	50939	HP:0001123	Visual field defect
ORPHANET:99000	IMPG2	50939	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:99000	IMPG2	50939	HP:0000541	Retinal detachment
ORPHANET:99000	IMPG2	50939	HP:0000551	Abnormality of color vision
ORPHANET:99000	IMPG2	50939	HP:0001139	Choroideremia
ORPHANET:99000	IMPG2	50939	HP:0000505	Visual impairment
ORPHANET:99000	IMPG2	50939	HP:0001103	Abnormality of the macula
ORPHANET:99000	BEST1	7439	HP:0001123	Visual field defect
ORPHANET:99000	BEST1	7439	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:99000	BEST1	7439	HP:0000541	Retinal detachment
ORPHANET:99000	BEST1	7439	HP:0000551	Abnormality of color vision
ORPHANET:99000	BEST1	7439	HP:0001139	Choroideremia
ORPHANET:99000	BEST1	7439	HP:0000505	Visual impairment
ORPHANET:99000	BEST1	7439	HP:0001103	Abnormality of the macula
ORPHANET:140	SOX9	6662	HP:0100569	Abnormal vertebral ossification
ORPHANET:140	SOX9	6662	HP:0000470	Short neck
ORPHANET:140	SOX9	6662	HP:0000520	Proptosis
ORPHANET:140	SOX9	6662	HP:0001883	Talipes
ORPHANET:140	SOX9	6662	HP:0000272	Malar flattening
ORPHANET:140	SOX9	6662	HP:0002808	Kyphosis
ORPHANET:140	SOX9	6662	HP:0002991	Abnormality of the fibula
ORPHANET:140	SOX9	6662	HP:0004322	Short stature
ORPHANET:140	SOX9	6662	HP:0005280	Depressed nasal bridge
ORPHANET:140	SOX9	6662	HP:0001601	Laryngomalacia
ORPHANET:140	SOX9	6662	HP:0000772	Abnormality of the ribs
ORPHANET:140	SOX9	6662	HP:0002093	Respiratory insufficiency
ORPHANET:140	SOX9	6662	HP:0000062	Ambiguous genitalia
ORPHANET:140	SOX9	6662	HP:0002779	Tracheomalacia
ORPHANET:140	SOX9	6662	HP:0000774	Narrow chest
ORPHANET:140	SOX9	6662	HP:0000316	Hypertelorism
ORPHANET:140	SOX9	6662	HP:0006487	Bowing of the long bones
ORPHANET:140	SOX9	6662	HP:0003272	Abnormality of the hip bone
ORPHANET:140	SOX9	6662	HP:0000175	Cleft palate
ORPHANET:140	SOX9	6662	HP:0002823	Abnormality of the femur
ORPHANET:140	SOX9	6662	HP:0010767	Sacrococcygeal pilonidal abnormality
ORPHANET:140	SOX9	6662	HP:0002650	Scoliosis
ORPHANET:140	SOX9	6662	HP:0000037	Male pseudohermaphroditism
ORPHANET:140	SOX9	6662	HP:0000347	Micrognathia
ORPHANET:140	SOX9	6662	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:140	SOX9	6662	HP:0004408	Abnormality of the sense of smell
ORPHANET:140	SOX9	6662	HP:0000256	Macrocephaly
ORPHANET:140	SOX9	6662	HP:0000365	Hearing impairment
ORPHANET:140	SOX9	6662	HP:0000912	Sprengel anomaly
ORPHANET:140	SOX9	6662	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:140	SOX9	6662	HP:0002992	Abnormality of the tibia
ORPHANET:140	SOX9	6662	HP:0002119	Ventriculomegaly
ORPHANET:140	SOX9	6662	HP:0002757	Recurrent fractures
ORPHANET:140	SOX9	6662	HP:0004348	Abnormality of bone mineral density
OMIM:614862	PEX19	5824	HP:0000316	Hypertelorism
OMIM:614862	PEX19	5824	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX19	5824	HP:0002240	Hepatomegaly
OMIM:614862	PEX19	5824	HP:0001522	Death in infancy
OMIM:614862	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX19	5824	HP:0000107	Renal cyst
OMIM:614862	PEX19	5824	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX19	5824	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX19	5824	HP:0001250	Seizures
OMIM:614862	PEX19	5824	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX16	9409	HP:0000316	Hypertelorism
OMIM:614862	PEX16	9409	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:614862	PEX16	9409	HP:0001522	Death in infancy
OMIM:614862	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX16	9409	HP:0000107	Renal cyst
OMIM:614862	PEX16	9409	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX16	9409	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX16	9409	HP:0001250	Seizures
OMIM:614862	PEX16	9409	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX2	5828	HP:0000316	Hypertelorism
OMIM:614862	PEX2	5828	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:614862	PEX2	5828	HP:0001522	Death in infancy
OMIM:614862	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX2	5828	HP:0000107	Renal cyst
OMIM:614862	PEX2	5828	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX2	5828	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX2	5828	HP:0001250	Seizures
OMIM:614862	PEX2	5828	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX1	5189	HP:0000316	Hypertelorism
OMIM:614862	PEX1	5189	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:614862	PEX1	5189	HP:0001522	Death in infancy
OMIM:614862	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX1	5189	HP:0000107	Renal cyst
OMIM:614862	PEX1	5189	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX1	5189	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX1	5189	HP:0001250	Seizures
OMIM:614862	PEX1	5189	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX6	5190	HP:0000316	Hypertelorism
OMIM:614862	PEX6	5190	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:614862	PEX6	5190	HP:0001522	Death in infancy
OMIM:614862	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX6	5190	HP:0000107	Renal cyst
OMIM:614862	PEX6	5190	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX6	5190	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX6	5190	HP:0001250	Seizures
OMIM:614862	PEX6	5190	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX5	5830	HP:0000316	Hypertelorism
OMIM:614862	PEX5	5830	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:614862	PEX5	5830	HP:0001522	Death in infancy
OMIM:614862	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX5	5830	HP:0000107	Renal cyst
OMIM:614862	PEX5	5830	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX5	5830	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX5	5830	HP:0001250	Seizures
OMIM:614862	PEX5	5830	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX10	5192	HP:0000316	Hypertelorism
OMIM:614862	PEX10	5192	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:614862	PEX10	5192	HP:0001522	Death in infancy
OMIM:614862	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX10	5192	HP:0000107	Renal cyst
OMIM:614862	PEX10	5192	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX10	5192	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX10	5192	HP:0001250	Seizures
OMIM:614862	PEX10	5192	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX12	5193	HP:0000316	Hypertelorism
OMIM:614862	PEX12	5193	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:614862	PEX12	5193	HP:0001522	Death in infancy
OMIM:614862	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX12	5193	HP:0000107	Renal cyst
OMIM:614862	PEX12	5193	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX12	5193	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX12	5193	HP:0001250	Seizures
OMIM:614862	PEX12	5193	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX13	5194	HP:0000316	Hypertelorism
OMIM:614862	PEX13	5194	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX13	5194	HP:0002240	Hepatomegaly
OMIM:614862	PEX13	5194	HP:0001522	Death in infancy
OMIM:614862	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX13	5194	HP:0000107	Renal cyst
OMIM:614862	PEX13	5194	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX13	5194	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX13	5194	HP:0001250	Seizures
OMIM:614862	PEX13	5194	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX14	5195	HP:0000316	Hypertelorism
OMIM:614862	PEX14	5195	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:614862	PEX14	5195	HP:0001522	Death in infancy
OMIM:614862	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX14	5195	HP:0000107	Renal cyst
OMIM:614862	PEX14	5195	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX14	5195	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX14	5195	HP:0001250	Seizures
OMIM:614862	PEX14	5195	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX26	55670	HP:0000316	Hypertelorism
OMIM:614862	PEX26	55670	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:614862	PEX26	55670	HP:0001522	Death in infancy
OMIM:614862	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX26	55670	HP:0000107	Renal cyst
OMIM:614862	PEX26	55670	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX26	55670	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX26	55670	HP:0001250	Seizures
OMIM:614862	PEX26	55670	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX3	8504	HP:0000316	Hypertelorism
OMIM:614862	PEX3	8504	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:614862	PEX3	8504	HP:0001522	Death in infancy
OMIM:614862	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX3	8504	HP:0000107	Renal cyst
OMIM:614862	PEX3	8504	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX3	8504	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX3	8504	HP:0001250	Seizures
OMIM:614862	PEX3	8504	HP:0010655	Epiphyseal stippling
OMIM:614862	PEX11B	8799	HP:0000316	Hypertelorism
OMIM:614862	PEX11B	8799	HP:0000582	Upslanted palpebral fissure
OMIM:614862	PEX11B	8799	HP:0002240	Hepatomegaly
OMIM:614862	PEX11B	8799	HP:0001522	Death in infancy
OMIM:614862	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614862	PEX11B	8799	HP:0000107	Renal cyst
OMIM:614862	PEX11B	8799	HP:0008872	Feeding difficulties in infancy
OMIM:614862	PEX11B	8799	HP:0005280	Depressed nasal bridge
OMIM:614862	PEX11B	8799	HP:0001250	Seizures
OMIM:614862	PEX11B	8799	HP:0010655	Epiphyseal stippling
OMIM:253220	GUSB	2990	HP:0001840	Metatarsus adductus
OMIM:253220	GUSB	2990	HP:0001004	Lymphedema
OMIM:253220	GUSB	2990	HP:0000926	Platyspondyly
OMIM:253220	GUSB	2990	HP:0007759	Opacification of the corneal stroma
OMIM:253220	GUSB	2990	HP:0003541	Urinary glycosaminoglycan excretion
OMIM:253220	GUSB	2990	HP:0000470	Short neck
OMIM:253220	GUSB	2990	HP:0001537	Umbilical hernia
OMIM:253220	GUSB	2990	HP:0000007	Autosomal recessive inheritance
OMIM:253220	GUSB	2990	HP:0001744	Splenomegaly
OMIM:253220	GUSB	2990	HP:0000280	Coarse facial features
OMIM:253220	GUSB	2990	HP:0003311	Hypoplasia of the odontoid process
OMIM:253220	GUSB	2990	HP:0001007	Hirsutism
OMIM:253220	GUSB	2990	HP:0002180	Neurodegeneration
OMIM:253220	GUSB	2990	HP:0001252	Muscular hypotonia
OMIM:253220	GUSB	2990	HP:0001789	Hydrops fetalis
OMIM:253220	GUSB	2990	HP:0003272	Abnormality of the hip bone
OMIM:253220	GUSB	2990	HP:0001541	Ascites
OMIM:253220	GUSB	2990	HP:0007957	Corneal opacity
OMIM:253220	GUSB	2990	HP:0001376	Limitation of joint mobility
OMIM:253220	GUSB	2990	HP:0000238	Hydrocephalus
OMIM:253220	GUSB	2990	HP:0001371	Flexion contracture
OMIM:253220	GUSB	2990	HP:0002650	Scoliosis
OMIM:253220	GUSB	2990	HP:0003375	Narrow greater sacrosciatic notches
OMIM:253220	GUSB	2990	HP:0000365	Hearing impairment
OMIM:253220	GUSB	2990	HP:0001883	Talipes
OMIM:253220	GUSB	2990	HP:0010655	Epiphyseal stippling
OMIM:253220	GUSB	2990	HP:0002205	Recurrent respiratory infections
OMIM:253220	GUSB	2990	HP:0008897	Postnatal growth retardation
OMIM:253220	GUSB	2990	HP:0000023	Inguinal hernia
OMIM:253220	GUSB	2990	HP:0001249	Intellectual disability
OMIM:253220	GUSB	2990	HP:0002240	Hepatomegaly
OMIM:253220	GUSB	2990	HP:0001392	Abnormality of the liver
OMIM:253220	GUSB	2990	HP:0000943	Dysostosis multiplex
OMIM:253220	GUSB	2990	HP:0004322	Short stature
OMIM:253220	GUSB	2990	HP:0001654	Abnormality of the heart valves
OMIM:253220	GUSB	2990	HP:0000256	Macrocephaly
OMIM:253220	GUSB	2990	HP:0100543	Cognitive impairment
OMIM:253220	GUSB	2990	HP:0100026	Arteriovenous malformation
OMIM:253220	GUSB	2990	HP:0000272	Malar flattening
OMIM:253220	GUSB	2990	HP:0000768	Pectus carinatum
OMIM:253220	GUSB	2990	HP:0100625	Enlarged thorax
OMIM:253220	GUSB	2990	HP:0008807	Acetabular dysplasia
OMIM:616116	METTL23	124512	HP:0000718	Aggressive behavior
OMIM:616116	METTL23	124512	HP:0001250	Seizures
OMIM:616116	METTL23	124512	HP:0001252	Muscular hypotonia
OMIM:616116	METTL23	124512	HP:0001263	Global developmental delay
OMIM:616116	METTL23	124512	HP:0001249	Intellectual disability
OMIM:616116	METTL23	124512	HP:0002360	Sleep disturbance
OMIM:616116	METTL23	124512	HP:0000713	Agitation
OMIM:616116	METTL23	124512	HP:0001510	Growth delay
OMIM:616116	METTL23	124512	HP:0002465	Poor speech
OMIM:616116	CRADD	8738	HP:0000718	Aggressive behavior
OMIM:616116	CRADD	8738	HP:0001250	Seizures
OMIM:616116	CRADD	8738	HP:0001252	Muscular hypotonia
OMIM:616116	CRADD	8738	HP:0001263	Global developmental delay
OMIM:616116	CRADD	8738	HP:0001249	Intellectual disability
OMIM:616116	CRADD	8738	HP:0002360	Sleep disturbance
OMIM:616116	CRADD	8738	HP:0000713	Agitation
OMIM:616116	CRADD	8738	HP:0001510	Growth delay
OMIM:616116	CRADD	8738	HP:0002465	Poor speech
OMIM:616116	NSUN2	54888	HP:0000718	Aggressive behavior
OMIM:616116	NSUN2	54888	HP:0001250	Seizures
OMIM:616116	NSUN2	54888	HP:0001252	Muscular hypotonia
OMIM:616116	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:616116	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:616116	NSUN2	54888	HP:0002360	Sleep disturbance
OMIM:616116	NSUN2	54888	HP:0000713	Agitation
OMIM:616116	NSUN2	54888	HP:0001510	Growth delay
OMIM:616116	NSUN2	54888	HP:0002465	Poor speech
OMIM:616116	FMN2	56776	HP:0000718	Aggressive behavior
OMIM:616116	FMN2	56776	HP:0001250	Seizures
OMIM:616116	FMN2	56776	HP:0001252	Muscular hypotonia
OMIM:616116	FMN2	56776	HP:0001263	Global developmental delay
OMIM:616116	FMN2	56776	HP:0001249	Intellectual disability
OMIM:616116	FMN2	56776	HP:0002360	Sleep disturbance
OMIM:616116	FMN2	56776	HP:0000713	Agitation
OMIM:616116	FMN2	56776	HP:0001510	Growth delay
OMIM:616116	FMN2	56776	HP:0002465	Poor speech
OMIM:616116	CLIP1	6249	HP:0000718	Aggressive behavior
OMIM:616116	CLIP1	6249	HP:0001250	Seizures
OMIM:616116	CLIP1	6249	HP:0001252	Muscular hypotonia
OMIM:616116	CLIP1	6249	HP:0001263	Global developmental delay
OMIM:616116	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:616116	CLIP1	6249	HP:0002360	Sleep disturbance
OMIM:616116	CLIP1	6249	HP:0000713	Agitation
OMIM:616116	CLIP1	6249	HP:0001510	Growth delay
OMIM:616116	CLIP1	6249	HP:0002465	Poor speech
OMIM:616116	ZC3H14	79882	HP:0000718	Aggressive behavior
OMIM:616116	ZC3H14	79882	HP:0001250	Seizures
OMIM:616116	ZC3H14	79882	HP:0001252	Muscular hypotonia
OMIM:616116	ZC3H14	79882	HP:0001263	Global developmental delay
OMIM:616116	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:616116	ZC3H14	79882	HP:0002360	Sleep disturbance
OMIM:616116	ZC3H14	79882	HP:0000713	Agitation
OMIM:616116	ZC3H14	79882	HP:0001510	Growth delay
OMIM:616116	ZC3H14	79882	HP:0002465	Poor speech
OMIM:616116	NDST1	3340	HP:0000718	Aggressive behavior
OMIM:616116	NDST1	3340	HP:0001250	Seizures
OMIM:616116	NDST1	3340	HP:0001252	Muscular hypotonia
OMIM:616116	NDST1	3340	HP:0001263	Global developmental delay
OMIM:616116	NDST1	3340	HP:0001249	Intellectual disability
OMIM:616116	NDST1	3340	HP:0002360	Sleep disturbance
OMIM:616116	NDST1	3340	HP:0000713	Agitation
OMIM:616116	NDST1	3340	HP:0001510	Growth delay
OMIM:616116	NDST1	3340	HP:0002465	Poor speech
OMIM:616116	PRSS12	8492	HP:0000718	Aggressive behavior
OMIM:616116	PRSS12	8492	HP:0001250	Seizures
OMIM:616116	PRSS12	8492	HP:0001252	Muscular hypotonia
OMIM:616116	PRSS12	8492	HP:0001263	Global developmental delay
OMIM:616116	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:616116	PRSS12	8492	HP:0002360	Sleep disturbance
OMIM:616116	PRSS12	8492	HP:0000713	Agitation
OMIM:616116	PRSS12	8492	HP:0001510	Growth delay
OMIM:616116	PRSS12	8492	HP:0002465	Poor speech
OMIM:616116	LINS1	55180	HP:0000718	Aggressive behavior
OMIM:616116	LINS1	55180	HP:0001250	Seizures
OMIM:616116	LINS1	55180	HP:0001252	Muscular hypotonia
OMIM:616116	LINS1	55180	HP:0001263	Global developmental delay
OMIM:616116	LINS1	55180	HP:0001249	Intellectual disability
OMIM:616116	LINS1	55180	HP:0002360	Sleep disturbance
OMIM:616116	LINS1	55180	HP:0000713	Agitation
OMIM:616116	LINS1	55180	HP:0001510	Growth delay
OMIM:616116	LINS1	55180	HP:0002465	Poor speech
OMIM:616116	CC2D1A	54862	HP:0000718	Aggressive behavior
OMIM:616116	CC2D1A	54862	HP:0001250	Seizures
OMIM:616116	CC2D1A	54862	HP:0001252	Muscular hypotonia
OMIM:616116	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:616116	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:616116	CC2D1A	54862	HP:0002360	Sleep disturbance
OMIM:616116	CC2D1A	54862	HP:0000713	Agitation
OMIM:616116	CC2D1A	54862	HP:0001510	Growth delay
OMIM:616116	CC2D1A	54862	HP:0002465	Poor speech
OMIM:616116	FBXO31	79791	HP:0000718	Aggressive behavior
OMIM:616116	FBXO31	79791	HP:0001250	Seizures
OMIM:616116	FBXO31	79791	HP:0001252	Muscular hypotonia
OMIM:616116	FBXO31	79791	HP:0001263	Global developmental delay
OMIM:616116	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:616116	FBXO31	79791	HP:0002360	Sleep disturbance
OMIM:616116	FBXO31	79791	HP:0000713	Agitation
OMIM:616116	FBXO31	79791	HP:0001510	Growth delay
OMIM:616116	FBXO31	79791	HP:0002465	Poor speech
OMIM:616116	CRBN	51185	HP:0000718	Aggressive behavior
OMIM:616116	CRBN	51185	HP:0001250	Seizures
OMIM:616116	CRBN	51185	HP:0001252	Muscular hypotonia
OMIM:616116	CRBN	51185	HP:0001263	Global developmental delay
OMIM:616116	CRBN	51185	HP:0001249	Intellectual disability
OMIM:616116	CRBN	51185	HP:0002360	Sleep disturbance
OMIM:616116	CRBN	51185	HP:0000713	Agitation
OMIM:616116	CRBN	51185	HP:0001510	Growth delay
OMIM:616116	CRBN	51185	HP:0002465	Poor speech
OMIM:616116	TRAPPC9	83696	HP:0000718	Aggressive behavior
OMIM:616116	TRAPPC9	83696	HP:0001250	Seizures
OMIM:616116	TRAPPC9	83696	HP:0001252	Muscular hypotonia
OMIM:616116	TRAPPC9	83696	HP:0001263	Global developmental delay
OMIM:616116	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:616116	TRAPPC9	83696	HP:0002360	Sleep disturbance
OMIM:616116	TRAPPC9	83696	HP:0000713	Agitation
OMIM:616116	TRAPPC9	83696	HP:0001510	Growth delay
OMIM:616116	TRAPPC9	83696	HP:0002465	Poor speech
OMIM:616116	GRIK2	2898	HP:0000718	Aggressive behavior
OMIM:616116	GRIK2	2898	HP:0001250	Seizures
OMIM:616116	GRIK2	2898	HP:0001252	Muscular hypotonia
OMIM:616116	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:616116	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:616116	GRIK2	2898	HP:0002360	Sleep disturbance
OMIM:616116	GRIK2	2898	HP:0000713	Agitation
OMIM:616116	GRIK2	2898	HP:0001510	Growth delay
OMIM:616116	GRIK2	2898	HP:0002465	Poor speech
OMIM:616116	SLC6A17	388662	HP:0000718	Aggressive behavior
OMIM:616116	SLC6A17	388662	HP:0001250	Seizures
OMIM:616116	SLC6A17	388662	HP:0001252	Muscular hypotonia
OMIM:616116	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:616116	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:616116	SLC6A17	388662	HP:0002360	Sleep disturbance
OMIM:616116	SLC6A17	388662	HP:0000713	Agitation
OMIM:616116	SLC6A17	388662	HP:0001510	Growth delay
OMIM:616116	SLC6A17	388662	HP:0002465	Poor speech
OMIM:616116	TECR	9524	HP:0000718	Aggressive behavior
OMIM:616116	TECR	9524	HP:0001250	Seizures
OMIM:616116	TECR	9524	HP:0001252	Muscular hypotonia
OMIM:616116	TECR	9524	HP:0001263	Global developmental delay
OMIM:616116	TECR	9524	HP:0001249	Intellectual disability
OMIM:616116	TECR	9524	HP:0002360	Sleep disturbance
OMIM:616116	TECR	9524	HP:0000713	Agitation
OMIM:616116	TECR	9524	HP:0001510	Growth delay
OMIM:616116	TECR	9524	HP:0002465	Poor speech
OMIM:616116	MAN1B1	11253	HP:0000718	Aggressive behavior
OMIM:616116	MAN1B1	11253	HP:0001250	Seizures
OMIM:616116	MAN1B1	11253	HP:0001252	Muscular hypotonia
OMIM:616116	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:616116	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:616116	MAN1B1	11253	HP:0002360	Sleep disturbance
OMIM:616116	MAN1B1	11253	HP:0000713	Agitation
OMIM:616116	MAN1B1	11253	HP:0001510	Growth delay
OMIM:616116	MAN1B1	11253	HP:0002465	Poor speech
OMIM:616116	TUSC3	7991	HP:0000718	Aggressive behavior
OMIM:616116	TUSC3	7991	HP:0001250	Seizures
OMIM:616116	TUSC3	7991	HP:0001252	Muscular hypotonia
OMIM:616116	TUSC3	7991	HP:0001263	Global developmental delay
OMIM:616116	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:616116	TUSC3	7991	HP:0002360	Sleep disturbance
OMIM:616116	TUSC3	7991	HP:0000713	Agitation
OMIM:616116	TUSC3	7991	HP:0001510	Growth delay
OMIM:616116	TUSC3	7991	HP:0002465	Poor speech
OMIM:616116	ST3GAL3	6487	HP:0000718	Aggressive behavior
OMIM:616116	ST3GAL3	6487	HP:0001250	Seizures
OMIM:616116	ST3GAL3	6487	HP:0001252	Muscular hypotonia
OMIM:616116	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:616116	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:616116	ST3GAL3	6487	HP:0002360	Sleep disturbance
OMIM:616116	ST3GAL3	6487	HP:0000713	Agitation
OMIM:616116	ST3GAL3	6487	HP:0001510	Growth delay
OMIM:616116	ST3GAL3	6487	HP:0002465	Poor speech
OMIM:616116	EDC3	80153	HP:0000718	Aggressive behavior
OMIM:616116	EDC3	80153	HP:0001250	Seizures
OMIM:616116	EDC3	80153	HP:0001252	Muscular hypotonia
OMIM:616116	EDC3	80153	HP:0001263	Global developmental delay
OMIM:616116	EDC3	80153	HP:0001249	Intellectual disability
OMIM:616116	EDC3	80153	HP:0002360	Sleep disturbance
OMIM:616116	EDC3	80153	HP:0000713	Agitation
OMIM:616116	EDC3	80153	HP:0001510	Growth delay
OMIM:616116	EDC3	80153	HP:0002465	Poor speech
OMIM:616116	MED13L	23389	HP:0000718	Aggressive behavior
OMIM:616116	MED13L	23389	HP:0001250	Seizures
OMIM:616116	MED13L	23389	HP:0001252	Muscular hypotonia
OMIM:616116	MED13L	23389	HP:0001263	Global developmental delay
OMIM:616116	MED13L	23389	HP:0001249	Intellectual disability
OMIM:616116	MED13L	23389	HP:0002360	Sleep disturbance
OMIM:616116	MED13L	23389	HP:0000713	Agitation
OMIM:616116	MED13L	23389	HP:0001510	Growth delay
OMIM:616116	MED13L	23389	HP:0002465	Poor speech
OMIM:616116	KIAA1033	23325	HP:0000718	Aggressive behavior
OMIM:616116	KIAA1033	23325	HP:0001250	Seizures
OMIM:616116	KIAA1033	23325	HP:0001252	Muscular hypotonia
OMIM:616116	KIAA1033	23325	HP:0001263	Global developmental delay
OMIM:616116	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:616116	KIAA1033	23325	HP:0002360	Sleep disturbance
OMIM:616116	KIAA1033	23325	HP:0000713	Agitation
OMIM:616116	KIAA1033	23325	HP:0001510	Growth delay
OMIM:616116	KIAA1033	23325	HP:0002465	Poor speech
OMIM:616116	MED23	9439	HP:0000718	Aggressive behavior
OMIM:616116	MED23	9439	HP:0001250	Seizures
OMIM:616116	MED23	9439	HP:0001252	Muscular hypotonia
OMIM:616116	MED23	9439	HP:0001263	Global developmental delay
OMIM:616116	MED23	9439	HP:0001249	Intellectual disability
OMIM:616116	MED23	9439	HP:0002360	Sleep disturbance
OMIM:616116	MED23	9439	HP:0000713	Agitation
OMIM:616116	MED23	9439	HP:0001510	Growth delay
OMIM:616116	MED23	9439	HP:0002465	Poor speech
OMIM:165800	ACAN	176	HP:0000006	Autosomal dominant inheritance
OMIM:165800	ACAN	176	HP:0001507	Growth abnormality
OMIM:165800	ACAN	176	HP:0002758	Osteoarthritis
OMIM:165800	ACAN	176	HP:0004322	Short stature
OMIM:165800	ACAN	176	HP:0002515	Waddling gait
OMIM:165800	ACAN	176	HP:0100777	Exostoses
OMIM:608984	RNF170	81790	HP:0001265	Hyporeflexia
OMIM:608984	RNF170	81790	HP:0003487	Babinski sign
OMIM:608984	RNF170	81790	HP:0000006	Autosomal dominant inheritance
OMIM:608984	RNF170	81790	HP:0001284	Areflexia
OMIM:608984	RNF170	81790	HP:0003581	Adult onset
OMIM:614173	CEP41	95681	HP:0000007	Autosomal recessive inheritance
OMIM:614173	CEP41	95681	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:614173	C5ORF42	65250	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:614173	B9D1	27077	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:614173	TMEM237	65062	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:614173	CSPP1	79848	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:614173	TMEM67	91147	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:614173	INPP5E	56623	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:614173	TCTN1	79600	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	AHI1	54806	HP:0000007	Autosomal recessive inheritance
OMIM:614173	AHI1	54806	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:614173	MKS1	54903	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:614173	TCTN2	79867	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	KIAA0586	9786	HP:0000007	Autosomal recessive inheritance
OMIM:614173	KIAA0586	9786	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	ARL13B	200894	HP:0000007	Autosomal recessive inheritance
OMIM:614173	ARL13B	200894	HP:0001320	Cerebellar vermis hypoplasia
OMIM:612782	ORAI1	84876	HP:0001508	Failure to thrive
OMIM:612782	ORAI1	84876	HP:0000007	Autosomal recessive inheritance
OMIM:612782	ORAI1	84876	HP:0003391	Gowers sign
OMIM:612782	ORAI1	84876	HP:0001252	Muscular hypotonia
OMIM:612782	ORAI1	84876	HP:0011107	Recurrent aphthous stomatitis
OMIM:612782	ORAI1	84876	HP:0002721	Immunodeficiency
OMIM:612782	ORAI1	84876	HP:0002719	Recurrent infections
OMIM:612782	ORAI1	84876	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612782	ORAI1	84876	HP:0003198	Myopathy
OMIM:612782	ORAI1	84876	HP:0002355	Difficulty walking
OMIM:612782	ORAI1	84876	HP:0000968	Ectodermal dysplasia
OMIM:614305	SOST	50964	HP:0002164	Nail dysplasia
OMIM:614305	SOST	50964	HP:0000256	Macrocephaly
OMIM:614305	SOST	50964	HP:0010554	Cutaneous finger syndactyly
OMIM:614305	SOST	50964	HP:0000303	Mandibular prognathia
OMIM:614305	SOST	50964	HP:0000007	Autosomal recessive inheritance
OMIM:614305	SOST	50964	HP:0000365	Hearing impairment
OMIM:614305	SOST	50964	HP:0010628	Facial palsy
OMIM:614305	SOST	50964	HP:0000316	Hypertelorism
OMIM:614305	SOST	50964	HP:0009381	Short finger
OMIM:614305	SOST	50964	HP:0002007	Frontal bossing
OMIM:614305	SOST	50964	HP:0000006	Autosomal dominant inheritance
OMIM:614305	LRP4	4038	HP:0002164	Nail dysplasia
OMIM:614305	LRP4	4038	HP:0000256	Macrocephaly
OMIM:614305	LRP4	4038	HP:0010554	Cutaneous finger syndactyly
OMIM:614305	LRP4	4038	HP:0000303	Mandibular prognathia
OMIM:614305	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:614305	LRP4	4038	HP:0000365	Hearing impairment
OMIM:614305	LRP4	4038	HP:0010628	Facial palsy
OMIM:614305	LRP4	4038	HP:0000316	Hypertelorism
OMIM:614305	LRP4	4038	HP:0009381	Short finger
OMIM:614305	LRP4	4038	HP:0002007	Frontal bossing
OMIM:614305	LRP4	4038	HP:0000006	Autosomal dominant inheritance
OMIM:607655	DSP	1832	HP:0001030	Fragile skin
OMIM:607655	DSP	1832	HP:0001508	Failure to thrive
OMIM:607655	DSP	1832	HP:0001626	Abnormality of the cardiovascular system
OMIM:607655	DSP	1832	HP:0002224	Woolly hair
OMIM:607655	DSP	1832	HP:0000653	Sparse eyelashes
OMIM:607655	DSP	1832	HP:0002164	Nail dysplasia
OMIM:607655	DSP	1832	HP:0008404	Nail dystrophy
OMIM:607655	DSP	1832	HP:0000007	Autosomal recessive inheritance
OMIM:607655	DSP	1832	HP:0000535	Sparse eyebrow
OMIM:607655	DSP	1832	HP:0001596	Alopecia
OMIM:609197	STAR	6770	HP:0000953	Hyperpigmentation of the skin
OMIM:609197	STAR	6770	HP:0000007	Autosomal recessive inheritance
OMIM:609197	STAR	6770	HP:0001988	Recurrent hypoglycemia
OMIM:609197	MRAP	56246	HP:0000953	Hyperpigmentation of the skin
OMIM:609197	MRAP	56246	HP:0000007	Autosomal recessive inheritance
OMIM:609197	MRAP	56246	HP:0001988	Recurrent hypoglycemia
OMIM:609197	NNT	23530	HP:0000953	Hyperpigmentation of the skin
OMIM:609197	NNT	23530	HP:0000007	Autosomal recessive inheritance
OMIM:609197	NNT	23530	HP:0001988	Recurrent hypoglycemia
OMIM:609197	TXNRD2	10587	HP:0000953	Hyperpigmentation of the skin
OMIM:609197	TXNRD2	10587	HP:0000007	Autosomal recessive inheritance
OMIM:609197	TXNRD2	10587	HP:0001988	Recurrent hypoglycemia
OMIM:609197	MC2R	4158	HP:0000953	Hyperpigmentation of the skin
OMIM:609197	MC2R	4158	HP:0000007	Autosomal recessive inheritance
OMIM:609197	MC2R	4158	HP:0001988	Recurrent hypoglycemia
OMIM:187300	GDF2	2658	HP:0002076	Migraine
OMIM:187300	GDF2	2658	HP:0001217	Clubbing
OMIM:187300	GDF2	2658	HP:0001250	Seizures
OMIM:187300	GDF2	2658	HP:0000961	Cyanosis
OMIM:187300	GDF2	2658	HP:0002573	Hematochezia
OMIM:187300	GDF2	2658	HP:0001901	Polycythemia
OMIM:187300	GDF2	2658	HP:0000006	Autosomal dominant inheritance
OMIM:187300	GDF2	2658	HP:0001394	Cirrhosis
OMIM:187300	GDF2	2658	HP:0001425	Heterogeneous
OMIM:187300	GDF2	2658	HP:0001903	Anemia
OMIM:187300	GDF2	2658	HP:0002094	Dyspnea
OMIM:187300	ENG	2022	HP:0002076	Migraine
OMIM:187300	ENG	2022	HP:0001217	Clubbing
OMIM:187300	ENG	2022	HP:0001250	Seizures
OMIM:187300	ENG	2022	HP:0000961	Cyanosis
OMIM:187300	ENG	2022	HP:0002573	Hematochezia
OMIM:187300	ENG	2022	HP:0001901	Polycythemia
OMIM:187300	ENG	2022	HP:0000006	Autosomal dominant inheritance
OMIM:187300	ENG	2022	HP:0001394	Cirrhosis
OMIM:187300	ENG	2022	HP:0001425	Heterogeneous
OMIM:187300	ENG	2022	HP:0001903	Anemia
OMIM:187300	ENG	2022	HP:0002094	Dyspnea
OMIM:187300	SMAD4	4089	HP:0002076	Migraine
OMIM:187300	SMAD4	4089	HP:0001217	Clubbing
OMIM:187300	SMAD4	4089	HP:0001250	Seizures
OMIM:187300	SMAD4	4089	HP:0000961	Cyanosis
OMIM:187300	SMAD4	4089	HP:0002573	Hematochezia
OMIM:187300	SMAD4	4089	HP:0001901	Polycythemia
OMIM:187300	SMAD4	4089	HP:0000006	Autosomal dominant inheritance
OMIM:187300	SMAD4	4089	HP:0001394	Cirrhosis
OMIM:187300	SMAD4	4089	HP:0001425	Heterogeneous
OMIM:187300	SMAD4	4089	HP:0001903	Anemia
OMIM:187300	SMAD4	4089	HP:0002094	Dyspnea
OMIM:187300	ACVRL1	94	HP:0002076	Migraine
OMIM:187300	ACVRL1	94	HP:0001217	Clubbing
OMIM:187300	ACVRL1	94	HP:0001250	Seizures
OMIM:187300	ACVRL1	94	HP:0000961	Cyanosis
OMIM:187300	ACVRL1	94	HP:0002573	Hematochezia
OMIM:187300	ACVRL1	94	HP:0001901	Polycythemia
OMIM:187300	ACVRL1	94	HP:0000006	Autosomal dominant inheritance
OMIM:187300	ACVRL1	94	HP:0001394	Cirrhosis
OMIM:187300	ACVRL1	94	HP:0001425	Heterogeneous
OMIM:187300	ACVRL1	94	HP:0001903	Anemia
OMIM:187300	ACVRL1	94	HP:0002094	Dyspnea
OMIM:227646	FANCC	2176	HP:0009777	Absent thumb
OMIM:227646	FANCC	2176	HP:0000081	Duplicated collecting system
OMIM:227646	FANCC	2176	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	FANCC	2176	HP:0001249	Intellectual disability
OMIM:227646	FANCC	2176	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	FANCC	2176	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	FANCC	2176	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	FANCC	2176	HP:0000007	Autosomal recessive inheritance
OMIM:227646	FANCC	2176	HP:0001875	Neutropenia
OMIM:227646	FANCC	2176	HP:0000568	Microphthalmia
OMIM:227646	FANCC	2176	HP:0000252	Microcephaly
OMIM:227646	FANCC	2176	HP:0001896	Reticulocytopenia
OMIM:227646	FANCC	2176	HP:0000104	Renal agenesis
OMIM:227646	FANCC	2176	HP:0000085	Horseshoe kidney
OMIM:227646	FANCC	2176	HP:0004322	Short stature
OMIM:227646	FANCC	2176	HP:0001876	Pancytopenia
OMIM:227646	FANCC	2176	HP:0001903	Anemia
OMIM:227646	FANCC	2176	HP:0003974	Absent radius
OMIM:227646	FANCC	2176	HP:0000086	Ectopic kidney
OMIM:227646	FANCC	2176	HP:0000365	Hearing impairment
OMIM:227646	FANCC	2176	HP:0001017	Anemic pallor
OMIM:227646	FANCC	2176	HP:0000978	Bruising susceptibility
OMIM:227646	FANCC	2176	HP:0001909	Leukemia
OMIM:227646	FANCC	2176	HP:0009778	Short thumb
OMIM:227646	FANCC	2176	HP:0000957	Cafe-au-lait spot
OMIM:227646	FANCC	2176	HP:0001873	Thrombocytopenia
OMIM:227646	FANCC	2176	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	FANCC	2176	HP:0000028	Cryptorchidism
OMIM:227646	FANCC	2176	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	FANCC	2176	HP:0000486	Strabismus
OMIM:227646	FANCC	2176	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	FANCC	2176	HP:0001518	Small for gestational age
OMIM:227646	FANCD2	2177	HP:0009777	Absent thumb
OMIM:227646	FANCD2	2177	HP:0000081	Duplicated collecting system
OMIM:227646	FANCD2	2177	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	FANCD2	2177	HP:0001249	Intellectual disability
OMIM:227646	FANCD2	2177	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	FANCD2	2177	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	FANCD2	2177	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	FANCD2	2177	HP:0000007	Autosomal recessive inheritance
OMIM:227646	FANCD2	2177	HP:0001875	Neutropenia
OMIM:227646	FANCD2	2177	HP:0000568	Microphthalmia
OMIM:227646	FANCD2	2177	HP:0000252	Microcephaly
OMIM:227646	FANCD2	2177	HP:0001896	Reticulocytopenia
OMIM:227646	FANCD2	2177	HP:0000104	Renal agenesis
OMIM:227646	FANCD2	2177	HP:0000085	Horseshoe kidney
OMIM:227646	FANCD2	2177	HP:0004322	Short stature
OMIM:227646	FANCD2	2177	HP:0001876	Pancytopenia
OMIM:227646	FANCD2	2177	HP:0001903	Anemia
OMIM:227646	FANCD2	2177	HP:0003974	Absent radius
OMIM:227646	FANCD2	2177	HP:0000086	Ectopic kidney
OMIM:227646	FANCD2	2177	HP:0000365	Hearing impairment
OMIM:227646	FANCD2	2177	HP:0001017	Anemic pallor
OMIM:227646	FANCD2	2177	HP:0000978	Bruising susceptibility
OMIM:227646	FANCD2	2177	HP:0001909	Leukemia
OMIM:227646	FANCD2	2177	HP:0009778	Short thumb
OMIM:227646	FANCD2	2177	HP:0000957	Cafe-au-lait spot
OMIM:227646	FANCD2	2177	HP:0001873	Thrombocytopenia
OMIM:227646	FANCD2	2177	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	FANCD2	2177	HP:0000028	Cryptorchidism
OMIM:227646	FANCD2	2177	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	FANCD2	2177	HP:0000486	Strabismus
OMIM:227646	FANCD2	2177	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	FANCD2	2177	HP:0001518	Small for gestational age
OMIM:227646	FANCM	57697	HP:0009777	Absent thumb
OMIM:227646	FANCM	57697	HP:0000081	Duplicated collecting system
OMIM:227646	FANCM	57697	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	FANCM	57697	HP:0001249	Intellectual disability
OMIM:227646	FANCM	57697	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	FANCM	57697	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	FANCM	57697	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	FANCM	57697	HP:0000007	Autosomal recessive inheritance
OMIM:227646	FANCM	57697	HP:0001875	Neutropenia
OMIM:227646	FANCM	57697	HP:0000568	Microphthalmia
OMIM:227646	FANCM	57697	HP:0000252	Microcephaly
OMIM:227646	FANCM	57697	HP:0001896	Reticulocytopenia
OMIM:227646	FANCM	57697	HP:0000104	Renal agenesis
OMIM:227646	FANCM	57697	HP:0000085	Horseshoe kidney
OMIM:227646	FANCM	57697	HP:0004322	Short stature
OMIM:227646	FANCM	57697	HP:0001876	Pancytopenia
OMIM:227646	FANCM	57697	HP:0001903	Anemia
OMIM:227646	FANCM	57697	HP:0003974	Absent radius
OMIM:227646	FANCM	57697	HP:0000086	Ectopic kidney
OMIM:227646	FANCM	57697	HP:0000365	Hearing impairment
OMIM:227646	FANCM	57697	HP:0001017	Anemic pallor
OMIM:227646	FANCM	57697	HP:0000978	Bruising susceptibility
OMIM:227646	FANCM	57697	HP:0001909	Leukemia
OMIM:227646	FANCM	57697	HP:0009778	Short thumb
OMIM:227646	FANCM	57697	HP:0000957	Cafe-au-lait spot
OMIM:227646	FANCM	57697	HP:0001873	Thrombocytopenia
OMIM:227646	FANCM	57697	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	FANCM	57697	HP:0000028	Cryptorchidism
OMIM:227646	FANCM	57697	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	FANCM	57697	HP:0000486	Strabismus
OMIM:227646	FANCM	57697	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	FANCM	57697	HP:0001518	Small for gestational age
OMIM:227646	RAD51C	5889	HP:0009777	Absent thumb
OMIM:227646	RAD51C	5889	HP:0000081	Duplicated collecting system
OMIM:227646	RAD51C	5889	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	RAD51C	5889	HP:0001249	Intellectual disability
OMIM:227646	RAD51C	5889	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	RAD51C	5889	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	RAD51C	5889	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	RAD51C	5889	HP:0000007	Autosomal recessive inheritance
OMIM:227646	RAD51C	5889	HP:0001875	Neutropenia
OMIM:227646	RAD51C	5889	HP:0000568	Microphthalmia
OMIM:227646	RAD51C	5889	HP:0000252	Microcephaly
OMIM:227646	RAD51C	5889	HP:0001896	Reticulocytopenia
OMIM:227646	RAD51C	5889	HP:0000104	Renal agenesis
OMIM:227646	RAD51C	5889	HP:0000085	Horseshoe kidney
OMIM:227646	RAD51C	5889	HP:0004322	Short stature
OMIM:227646	RAD51C	5889	HP:0001876	Pancytopenia
OMIM:227646	RAD51C	5889	HP:0001903	Anemia
OMIM:227646	RAD51C	5889	HP:0003974	Absent radius
OMIM:227646	RAD51C	5889	HP:0000086	Ectopic kidney
OMIM:227646	RAD51C	5889	HP:0000365	Hearing impairment
OMIM:227646	RAD51C	5889	HP:0001017	Anemic pallor
OMIM:227646	RAD51C	5889	HP:0000978	Bruising susceptibility
OMIM:227646	RAD51C	5889	HP:0001909	Leukemia
OMIM:227646	RAD51C	5889	HP:0009778	Short thumb
OMIM:227646	RAD51C	5889	HP:0000957	Cafe-au-lait spot
OMIM:227646	RAD51C	5889	HP:0001873	Thrombocytopenia
OMIM:227646	RAD51C	5889	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	RAD51C	5889	HP:0000028	Cryptorchidism
OMIM:227646	RAD51C	5889	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	RAD51C	5889	HP:0000486	Strabismus
OMIM:227646	RAD51C	5889	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	RAD51C	5889	HP:0001518	Small for gestational age
OMIM:227646	UBE2T	29089	HP:0009777	Absent thumb
OMIM:227646	UBE2T	29089	HP:0000081	Duplicated collecting system
OMIM:227646	UBE2T	29089	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	UBE2T	29089	HP:0001249	Intellectual disability
OMIM:227646	UBE2T	29089	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	UBE2T	29089	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	UBE2T	29089	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	UBE2T	29089	HP:0000007	Autosomal recessive inheritance
OMIM:227646	UBE2T	29089	HP:0001875	Neutropenia
OMIM:227646	UBE2T	29089	HP:0000568	Microphthalmia
OMIM:227646	UBE2T	29089	HP:0000252	Microcephaly
OMIM:227646	UBE2T	29089	HP:0001896	Reticulocytopenia
OMIM:227646	UBE2T	29089	HP:0000104	Renal agenesis
OMIM:227646	UBE2T	29089	HP:0000085	Horseshoe kidney
OMIM:227646	UBE2T	29089	HP:0004322	Short stature
OMIM:227646	UBE2T	29089	HP:0001876	Pancytopenia
OMIM:227646	UBE2T	29089	HP:0001903	Anemia
OMIM:227646	UBE2T	29089	HP:0003974	Absent radius
OMIM:227646	UBE2T	29089	HP:0000086	Ectopic kidney
OMIM:227646	UBE2T	29089	HP:0000365	Hearing impairment
OMIM:227646	UBE2T	29089	HP:0001017	Anemic pallor
OMIM:227646	UBE2T	29089	HP:0000978	Bruising susceptibility
OMIM:227646	UBE2T	29089	HP:0001909	Leukemia
OMIM:227646	UBE2T	29089	HP:0009778	Short thumb
OMIM:227646	UBE2T	29089	HP:0000957	Cafe-au-lait spot
OMIM:227646	UBE2T	29089	HP:0001873	Thrombocytopenia
OMIM:227646	UBE2T	29089	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	UBE2T	29089	HP:0000028	Cryptorchidism
OMIM:227646	UBE2T	29089	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	UBE2T	29089	HP:0000486	Strabismus
OMIM:227646	UBE2T	29089	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	UBE2T	29089	HP:0001518	Small for gestational age
OMIM:227646	FANCE	2178	HP:0009777	Absent thumb
OMIM:227646	FANCE	2178	HP:0000081	Duplicated collecting system
OMIM:227646	FANCE	2178	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	FANCE	2178	HP:0001249	Intellectual disability
OMIM:227646	FANCE	2178	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	FANCE	2178	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	FANCE	2178	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	FANCE	2178	HP:0000007	Autosomal recessive inheritance
OMIM:227646	FANCE	2178	HP:0001875	Neutropenia
OMIM:227646	FANCE	2178	HP:0000568	Microphthalmia
OMIM:227646	FANCE	2178	HP:0000252	Microcephaly
OMIM:227646	FANCE	2178	HP:0001896	Reticulocytopenia
OMIM:227646	FANCE	2178	HP:0000104	Renal agenesis
OMIM:227646	FANCE	2178	HP:0000085	Horseshoe kidney
OMIM:227646	FANCE	2178	HP:0004322	Short stature
OMIM:227646	FANCE	2178	HP:0001876	Pancytopenia
OMIM:227646	FANCE	2178	HP:0001903	Anemia
OMIM:227646	FANCE	2178	HP:0003974	Absent radius
OMIM:227646	FANCE	2178	HP:0000086	Ectopic kidney
OMIM:227646	FANCE	2178	HP:0000365	Hearing impairment
OMIM:227646	FANCE	2178	HP:0001017	Anemic pallor
OMIM:227646	FANCE	2178	HP:0000978	Bruising susceptibility
OMIM:227646	FANCE	2178	HP:0001909	Leukemia
OMIM:227646	FANCE	2178	HP:0009778	Short thumb
OMIM:227646	FANCE	2178	HP:0000957	Cafe-au-lait spot
OMIM:227646	FANCE	2178	HP:0001873	Thrombocytopenia
OMIM:227646	FANCE	2178	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	FANCE	2178	HP:0000028	Cryptorchidism
OMIM:227646	FANCE	2178	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	FANCE	2178	HP:0000486	Strabismus
OMIM:227646	FANCE	2178	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	FANCE	2178	HP:0001518	Small for gestational age
OMIM:227646	BRCA2	675	HP:0009777	Absent thumb
OMIM:227646	BRCA2	675	HP:0000081	Duplicated collecting system
OMIM:227646	BRCA2	675	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	BRCA2	675	HP:0001249	Intellectual disability
OMIM:227646	BRCA2	675	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	BRCA2	675	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	BRCA2	675	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:227646	BRCA2	675	HP:0001875	Neutropenia
OMIM:227646	BRCA2	675	HP:0000568	Microphthalmia
OMIM:227646	BRCA2	675	HP:0000252	Microcephaly
OMIM:227646	BRCA2	675	HP:0001896	Reticulocytopenia
OMIM:227646	BRCA2	675	HP:0000104	Renal agenesis
OMIM:227646	BRCA2	675	HP:0000085	Horseshoe kidney
OMIM:227646	BRCA2	675	HP:0004322	Short stature
OMIM:227646	BRCA2	675	HP:0001876	Pancytopenia
OMIM:227646	BRCA2	675	HP:0001903	Anemia
OMIM:227646	BRCA2	675	HP:0003974	Absent radius
OMIM:227646	BRCA2	675	HP:0000086	Ectopic kidney
OMIM:227646	BRCA2	675	HP:0000365	Hearing impairment
OMIM:227646	BRCA2	675	HP:0001017	Anemic pallor
OMIM:227646	BRCA2	675	HP:0000978	Bruising susceptibility
OMIM:227646	BRCA2	675	HP:0001909	Leukemia
OMIM:227646	BRCA2	675	HP:0009778	Short thumb
OMIM:227646	BRCA2	675	HP:0000957	Cafe-au-lait spot
OMIM:227646	BRCA2	675	HP:0001873	Thrombocytopenia
OMIM:227646	BRCA2	675	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	BRCA2	675	HP:0000028	Cryptorchidism
OMIM:227646	BRCA2	675	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	BRCA2	675	HP:0000486	Strabismus
OMIM:227646	BRCA2	675	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	BRCA2	675	HP:0001518	Small for gestational age
OMIM:227646	FANCB	2187	HP:0009777	Absent thumb
OMIM:227646	FANCB	2187	HP:0000081	Duplicated collecting system
OMIM:227646	FANCB	2187	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	FANCB	2187	HP:0001249	Intellectual disability
OMIM:227646	FANCB	2187	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	FANCB	2187	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	FANCB	2187	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	FANCB	2187	HP:0000007	Autosomal recessive inheritance
OMIM:227646	FANCB	2187	HP:0001875	Neutropenia
OMIM:227646	FANCB	2187	HP:0000568	Microphthalmia
OMIM:227646	FANCB	2187	HP:0000252	Microcephaly
OMIM:227646	FANCB	2187	HP:0001896	Reticulocytopenia
OMIM:227646	FANCB	2187	HP:0000104	Renal agenesis
OMIM:227646	FANCB	2187	HP:0000085	Horseshoe kidney
OMIM:227646	FANCB	2187	HP:0004322	Short stature
OMIM:227646	FANCB	2187	HP:0001876	Pancytopenia
OMIM:227646	FANCB	2187	HP:0001903	Anemia
OMIM:227646	FANCB	2187	HP:0003974	Absent radius
OMIM:227646	FANCB	2187	HP:0000086	Ectopic kidney
OMIM:227646	FANCB	2187	HP:0000365	Hearing impairment
OMIM:227646	FANCB	2187	HP:0001017	Anemic pallor
OMIM:227646	FANCB	2187	HP:0000978	Bruising susceptibility
OMIM:227646	FANCB	2187	HP:0001909	Leukemia
OMIM:227646	FANCB	2187	HP:0009778	Short thumb
OMIM:227646	FANCB	2187	HP:0000957	Cafe-au-lait spot
OMIM:227646	FANCB	2187	HP:0001873	Thrombocytopenia
OMIM:227646	FANCB	2187	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	FANCB	2187	HP:0000028	Cryptorchidism
OMIM:227646	FANCB	2187	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	FANCB	2187	HP:0000486	Strabismus
OMIM:227646	FANCB	2187	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	FANCB	2187	HP:0001518	Small for gestational age
OMIM:227646	FANCF	2188	HP:0009777	Absent thumb
OMIM:227646	FANCF	2188	HP:0000081	Duplicated collecting system
OMIM:227646	FANCF	2188	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	FANCF	2188	HP:0001249	Intellectual disability
OMIM:227646	FANCF	2188	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	FANCF	2188	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	FANCF	2188	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	FANCF	2188	HP:0000007	Autosomal recessive inheritance
OMIM:227646	FANCF	2188	HP:0001875	Neutropenia
OMIM:227646	FANCF	2188	HP:0000568	Microphthalmia
OMIM:227646	FANCF	2188	HP:0000252	Microcephaly
OMIM:227646	FANCF	2188	HP:0001896	Reticulocytopenia
OMIM:227646	FANCF	2188	HP:0000104	Renal agenesis
OMIM:227646	FANCF	2188	HP:0000085	Horseshoe kidney
OMIM:227646	FANCF	2188	HP:0004322	Short stature
OMIM:227646	FANCF	2188	HP:0001876	Pancytopenia
OMIM:227646	FANCF	2188	HP:0001903	Anemia
OMIM:227646	FANCF	2188	HP:0003974	Absent radius
OMIM:227646	FANCF	2188	HP:0000086	Ectopic kidney
OMIM:227646	FANCF	2188	HP:0000365	Hearing impairment
OMIM:227646	FANCF	2188	HP:0001017	Anemic pallor
OMIM:227646	FANCF	2188	HP:0000978	Bruising susceptibility
OMIM:227646	FANCF	2188	HP:0001909	Leukemia
OMIM:227646	FANCF	2188	HP:0009778	Short thumb
OMIM:227646	FANCF	2188	HP:0000957	Cafe-au-lait spot
OMIM:227646	FANCF	2188	HP:0001873	Thrombocytopenia
OMIM:227646	FANCF	2188	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	FANCF	2188	HP:0000028	Cryptorchidism
OMIM:227646	FANCF	2188	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	FANCF	2188	HP:0000486	Strabismus
OMIM:227646	FANCF	2188	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	FANCF	2188	HP:0001518	Small for gestational age
OMIM:227646	FANCG	2189	HP:0009777	Absent thumb
OMIM:227646	FANCG	2189	HP:0000081	Duplicated collecting system
OMIM:227646	FANCG	2189	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	FANCG	2189	HP:0001249	Intellectual disability
OMIM:227646	FANCG	2189	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	FANCG	2189	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	FANCG	2189	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	FANCG	2189	HP:0000007	Autosomal recessive inheritance
OMIM:227646	FANCG	2189	HP:0001875	Neutropenia
OMIM:227646	FANCG	2189	HP:0000568	Microphthalmia
OMIM:227646	FANCG	2189	HP:0000252	Microcephaly
OMIM:227646	FANCG	2189	HP:0001896	Reticulocytopenia
OMIM:227646	FANCG	2189	HP:0000104	Renal agenesis
OMIM:227646	FANCG	2189	HP:0000085	Horseshoe kidney
OMIM:227646	FANCG	2189	HP:0004322	Short stature
OMIM:227646	FANCG	2189	HP:0001876	Pancytopenia
OMIM:227646	FANCG	2189	HP:0001903	Anemia
OMIM:227646	FANCG	2189	HP:0003974	Absent radius
OMIM:227646	FANCG	2189	HP:0000086	Ectopic kidney
OMIM:227646	FANCG	2189	HP:0000365	Hearing impairment
OMIM:227646	FANCG	2189	HP:0001017	Anemic pallor
OMIM:227646	FANCG	2189	HP:0000978	Bruising susceptibility
OMIM:227646	FANCG	2189	HP:0001909	Leukemia
OMIM:227646	FANCG	2189	HP:0009778	Short thumb
OMIM:227646	FANCG	2189	HP:0000957	Cafe-au-lait spot
OMIM:227646	FANCG	2189	HP:0001873	Thrombocytopenia
OMIM:227646	FANCG	2189	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	FANCG	2189	HP:0000028	Cryptorchidism
OMIM:227646	FANCG	2189	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	FANCG	2189	HP:0000486	Strabismus
OMIM:227646	FANCG	2189	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	FANCG	2189	HP:0001518	Small for gestational age
OMIM:227646	FANCI	55215	HP:0009777	Absent thumb
OMIM:227646	FANCI	55215	HP:0000081	Duplicated collecting system
OMIM:227646	FANCI	55215	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	FANCI	55215	HP:0001249	Intellectual disability
OMIM:227646	FANCI	55215	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	FANCI	55215	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	FANCI	55215	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	FANCI	55215	HP:0000007	Autosomal recessive inheritance
OMIM:227646	FANCI	55215	HP:0001875	Neutropenia
OMIM:227646	FANCI	55215	HP:0000568	Microphthalmia
OMIM:227646	FANCI	55215	HP:0000252	Microcephaly
OMIM:227646	FANCI	55215	HP:0001896	Reticulocytopenia
OMIM:227646	FANCI	55215	HP:0000104	Renal agenesis
OMIM:227646	FANCI	55215	HP:0000085	Horseshoe kidney
OMIM:227646	FANCI	55215	HP:0004322	Short stature
OMIM:227646	FANCI	55215	HP:0001876	Pancytopenia
OMIM:227646	FANCI	55215	HP:0001903	Anemia
OMIM:227646	FANCI	55215	HP:0003974	Absent radius
OMIM:227646	FANCI	55215	HP:0000086	Ectopic kidney
OMIM:227646	FANCI	55215	HP:0000365	Hearing impairment
OMIM:227646	FANCI	55215	HP:0001017	Anemic pallor
OMIM:227646	FANCI	55215	HP:0000978	Bruising susceptibility
OMIM:227646	FANCI	55215	HP:0001909	Leukemia
OMIM:227646	FANCI	55215	HP:0009778	Short thumb
OMIM:227646	FANCI	55215	HP:0000957	Cafe-au-lait spot
OMIM:227646	FANCI	55215	HP:0001873	Thrombocytopenia
OMIM:227646	FANCI	55215	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	FANCI	55215	HP:0000028	Cryptorchidism
OMIM:227646	FANCI	55215	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	FANCI	55215	HP:0000486	Strabismus
OMIM:227646	FANCI	55215	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	FANCI	55215	HP:0001518	Small for gestational age
OMIM:227646	FANCL	55120	HP:0009777	Absent thumb
OMIM:227646	FANCL	55120	HP:0000081	Duplicated collecting system
OMIM:227646	FANCL	55120	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	FANCL	55120	HP:0001249	Intellectual disability
OMIM:227646	FANCL	55120	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	FANCL	55120	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	FANCL	55120	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	FANCL	55120	HP:0000007	Autosomal recessive inheritance
OMIM:227646	FANCL	55120	HP:0001875	Neutropenia
OMIM:227646	FANCL	55120	HP:0000568	Microphthalmia
OMIM:227646	FANCL	55120	HP:0000252	Microcephaly
OMIM:227646	FANCL	55120	HP:0001896	Reticulocytopenia
OMIM:227646	FANCL	55120	HP:0000104	Renal agenesis
OMIM:227646	FANCL	55120	HP:0000085	Horseshoe kidney
OMIM:227646	FANCL	55120	HP:0004322	Short stature
OMIM:227646	FANCL	55120	HP:0001876	Pancytopenia
OMIM:227646	FANCL	55120	HP:0001903	Anemia
OMIM:227646	FANCL	55120	HP:0003974	Absent radius
OMIM:227646	FANCL	55120	HP:0000086	Ectopic kidney
OMIM:227646	FANCL	55120	HP:0000365	Hearing impairment
OMIM:227646	FANCL	55120	HP:0001017	Anemic pallor
OMIM:227646	FANCL	55120	HP:0000978	Bruising susceptibility
OMIM:227646	FANCL	55120	HP:0001909	Leukemia
OMIM:227646	FANCL	55120	HP:0009778	Short thumb
OMIM:227646	FANCL	55120	HP:0000957	Cafe-au-lait spot
OMIM:227646	FANCL	55120	HP:0001873	Thrombocytopenia
OMIM:227646	FANCL	55120	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	FANCL	55120	HP:0000028	Cryptorchidism
OMIM:227646	FANCL	55120	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	FANCL	55120	HP:0000486	Strabismus
OMIM:227646	FANCL	55120	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	FANCL	55120	HP:0001518	Small for gestational age
OMIM:227646	PALB2	79728	HP:0009777	Absent thumb
OMIM:227646	PALB2	79728	HP:0000081	Duplicated collecting system
OMIM:227646	PALB2	79728	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	PALB2	79728	HP:0001249	Intellectual disability
OMIM:227646	PALB2	79728	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	PALB2	79728	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	PALB2	79728	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	PALB2	79728	HP:0000007	Autosomal recessive inheritance
OMIM:227646	PALB2	79728	HP:0001875	Neutropenia
OMIM:227646	PALB2	79728	HP:0000568	Microphthalmia
OMIM:227646	PALB2	79728	HP:0000252	Microcephaly
OMIM:227646	PALB2	79728	HP:0001896	Reticulocytopenia
OMIM:227646	PALB2	79728	HP:0000104	Renal agenesis
OMIM:227646	PALB2	79728	HP:0000085	Horseshoe kidney
OMIM:227646	PALB2	79728	HP:0004322	Short stature
OMIM:227646	PALB2	79728	HP:0001876	Pancytopenia
OMIM:227646	PALB2	79728	HP:0001903	Anemia
OMIM:227646	PALB2	79728	HP:0003974	Absent radius
OMIM:227646	PALB2	79728	HP:0000086	Ectopic kidney
OMIM:227646	PALB2	79728	HP:0000365	Hearing impairment
OMIM:227646	PALB2	79728	HP:0001017	Anemic pallor
OMIM:227646	PALB2	79728	HP:0000978	Bruising susceptibility
OMIM:227646	PALB2	79728	HP:0001909	Leukemia
OMIM:227646	PALB2	79728	HP:0009778	Short thumb
OMIM:227646	PALB2	79728	HP:0000957	Cafe-au-lait spot
OMIM:227646	PALB2	79728	HP:0001873	Thrombocytopenia
OMIM:227646	PALB2	79728	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	PALB2	79728	HP:0000028	Cryptorchidism
OMIM:227646	PALB2	79728	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	PALB2	79728	HP:0000486	Strabismus
OMIM:227646	PALB2	79728	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	PALB2	79728	HP:0001518	Small for gestational age
OMIM:227646	SLX4	84464	HP:0009777	Absent thumb
OMIM:227646	SLX4	84464	HP:0000081	Duplicated collecting system
OMIM:227646	SLX4	84464	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	SLX4	84464	HP:0001249	Intellectual disability
OMIM:227646	SLX4	84464	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	SLX4	84464	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	SLX4	84464	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	SLX4	84464	HP:0000007	Autosomal recessive inheritance
OMIM:227646	SLX4	84464	HP:0001875	Neutropenia
OMIM:227646	SLX4	84464	HP:0000568	Microphthalmia
OMIM:227646	SLX4	84464	HP:0000252	Microcephaly
OMIM:227646	SLX4	84464	HP:0001896	Reticulocytopenia
OMIM:227646	SLX4	84464	HP:0000104	Renal agenesis
OMIM:227646	SLX4	84464	HP:0000085	Horseshoe kidney
OMIM:227646	SLX4	84464	HP:0004322	Short stature
OMIM:227646	SLX4	84464	HP:0001876	Pancytopenia
OMIM:227646	SLX4	84464	HP:0001903	Anemia
OMIM:227646	SLX4	84464	HP:0003974	Absent radius
OMIM:227646	SLX4	84464	HP:0000086	Ectopic kidney
OMIM:227646	SLX4	84464	HP:0000365	Hearing impairment
OMIM:227646	SLX4	84464	HP:0001017	Anemic pallor
OMIM:227646	SLX4	84464	HP:0000978	Bruising susceptibility
OMIM:227646	SLX4	84464	HP:0001909	Leukemia
OMIM:227646	SLX4	84464	HP:0009778	Short thumb
OMIM:227646	SLX4	84464	HP:0000957	Cafe-au-lait spot
OMIM:227646	SLX4	84464	HP:0001873	Thrombocytopenia
OMIM:227646	SLX4	84464	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	SLX4	84464	HP:0000028	Cryptorchidism
OMIM:227646	SLX4	84464	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	SLX4	84464	HP:0000486	Strabismus
OMIM:227646	SLX4	84464	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	SLX4	84464	HP:0001518	Small for gestational age
OMIM:227646	BRIP1	83990	HP:0009777	Absent thumb
OMIM:227646	BRIP1	83990	HP:0000081	Duplicated collecting system
OMIM:227646	BRIP1	83990	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	BRIP1	83990	HP:0001249	Intellectual disability
OMIM:227646	BRIP1	83990	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	BRIP1	83990	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	BRIP1	83990	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	BRIP1	83990	HP:0000007	Autosomal recessive inheritance
OMIM:227646	BRIP1	83990	HP:0001875	Neutropenia
OMIM:227646	BRIP1	83990	HP:0000568	Microphthalmia
OMIM:227646	BRIP1	83990	HP:0000252	Microcephaly
OMIM:227646	BRIP1	83990	HP:0001896	Reticulocytopenia
OMIM:227646	BRIP1	83990	HP:0000104	Renal agenesis
OMIM:227646	BRIP1	83990	HP:0000085	Horseshoe kidney
OMIM:227646	BRIP1	83990	HP:0004322	Short stature
OMIM:227646	BRIP1	83990	HP:0001876	Pancytopenia
OMIM:227646	BRIP1	83990	HP:0001903	Anemia
OMIM:227646	BRIP1	83990	HP:0003974	Absent radius
OMIM:227646	BRIP1	83990	HP:0000086	Ectopic kidney
OMIM:227646	BRIP1	83990	HP:0000365	Hearing impairment
OMIM:227646	BRIP1	83990	HP:0001017	Anemic pallor
OMIM:227646	BRIP1	83990	HP:0000978	Bruising susceptibility
OMIM:227646	BRIP1	83990	HP:0001909	Leukemia
OMIM:227646	BRIP1	83990	HP:0009778	Short thumb
OMIM:227646	BRIP1	83990	HP:0000957	Cafe-au-lait spot
OMIM:227646	BRIP1	83990	HP:0001873	Thrombocytopenia
OMIM:227646	BRIP1	83990	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	BRIP1	83990	HP:0000028	Cryptorchidism
OMIM:227646	BRIP1	83990	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	BRIP1	83990	HP:0000486	Strabismus
OMIM:227646	BRIP1	83990	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	BRIP1	83990	HP:0001518	Small for gestational age
OMIM:227646	ERCC4	2072	HP:0009777	Absent thumb
OMIM:227646	ERCC4	2072	HP:0000081	Duplicated collecting system
OMIM:227646	ERCC4	2072	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	ERCC4	2072	HP:0001249	Intellectual disability
OMIM:227646	ERCC4	2072	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	ERCC4	2072	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	ERCC4	2072	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:227646	ERCC4	2072	HP:0001875	Neutropenia
OMIM:227646	ERCC4	2072	HP:0000568	Microphthalmia
OMIM:227646	ERCC4	2072	HP:0000252	Microcephaly
OMIM:227646	ERCC4	2072	HP:0001896	Reticulocytopenia
OMIM:227646	ERCC4	2072	HP:0000104	Renal agenesis
OMIM:227646	ERCC4	2072	HP:0000085	Horseshoe kidney
OMIM:227646	ERCC4	2072	HP:0004322	Short stature
OMIM:227646	ERCC4	2072	HP:0001876	Pancytopenia
OMIM:227646	ERCC4	2072	HP:0001903	Anemia
OMIM:227646	ERCC4	2072	HP:0003974	Absent radius
OMIM:227646	ERCC4	2072	HP:0000086	Ectopic kidney
OMIM:227646	ERCC4	2072	HP:0000365	Hearing impairment
OMIM:227646	ERCC4	2072	HP:0001017	Anemic pallor
OMIM:227646	ERCC4	2072	HP:0000978	Bruising susceptibility
OMIM:227646	ERCC4	2072	HP:0001909	Leukemia
OMIM:227646	ERCC4	2072	HP:0009778	Short thumb
OMIM:227646	ERCC4	2072	HP:0000957	Cafe-au-lait spot
OMIM:227646	ERCC4	2072	HP:0001873	Thrombocytopenia
OMIM:227646	ERCC4	2072	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	ERCC4	2072	HP:0000028	Cryptorchidism
OMIM:227646	ERCC4	2072	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	ERCC4	2072	HP:0000486	Strabismus
OMIM:227646	ERCC4	2072	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	ERCC4	2072	HP:0001518	Small for gestational age
OMIM:227646	FANCA	2175	HP:0009777	Absent thumb
OMIM:227646	FANCA	2175	HP:0000081	Duplicated collecting system
OMIM:227646	FANCA	2175	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227646	FANCA	2175	HP:0001249	Intellectual disability
OMIM:227646	FANCA	2175	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227646	FANCA	2175	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227646	FANCA	2175	HP:0001000	Abnormality of skin pigmentation
OMIM:227646	FANCA	2175	HP:0000007	Autosomal recessive inheritance
OMIM:227646	FANCA	2175	HP:0001875	Neutropenia
OMIM:227646	FANCA	2175	HP:0000568	Microphthalmia
OMIM:227646	FANCA	2175	HP:0000252	Microcephaly
OMIM:227646	FANCA	2175	HP:0001896	Reticulocytopenia
OMIM:227646	FANCA	2175	HP:0000104	Renal agenesis
OMIM:227646	FANCA	2175	HP:0000085	Horseshoe kidney
OMIM:227646	FANCA	2175	HP:0004322	Short stature
OMIM:227646	FANCA	2175	HP:0001876	Pancytopenia
OMIM:227646	FANCA	2175	HP:0001903	Anemia
OMIM:227646	FANCA	2175	HP:0003974	Absent radius
OMIM:227646	FANCA	2175	HP:0000086	Ectopic kidney
OMIM:227646	FANCA	2175	HP:0000365	Hearing impairment
OMIM:227646	FANCA	2175	HP:0001017	Anemic pallor
OMIM:227646	FANCA	2175	HP:0000978	Bruising susceptibility
OMIM:227646	FANCA	2175	HP:0001909	Leukemia
OMIM:227646	FANCA	2175	HP:0009778	Short thumb
OMIM:227646	FANCA	2175	HP:0000957	Cafe-au-lait spot
OMIM:227646	FANCA	2175	HP:0001873	Thrombocytopenia
OMIM:227646	FANCA	2175	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227646	FANCA	2175	HP:0000028	Cryptorchidism
OMIM:227646	FANCA	2175	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227646	FANCA	2175	HP:0000486	Strabismus
OMIM:227646	FANCA	2175	HP:0009943	Complete duplication of thumb phalanx
OMIM:227646	FANCA	2175	HP:0001518	Small for gestational age
OMIM:152780	LHB	3972	HP:0003251	Male infertility
OMIM:152780	LHB	3972	HP:0000006	Autosomal dominant inheritance
OMIM:152780	LHB	3972	HP:0000037	Male pseudohermaphroditism
OMIM:152780	LHB	3972	HP:0000062	Ambiguous genitalia
OMIM:615750	GUCY1A3	2982	HP:0000822	Hypertension
OMIM:615750	GUCY1A3	2982	HP:0002571	Achalasia
OMIM:615750	GUCY1A3	2982	HP:0001250	Seizures
OMIM:615750	GUCY1A3	2982	HP:0000965	Cutis marmorata
OMIM:615750	GUCY1A3	2982	HP:0002015	Dysphagia
OMIM:300216	NDP	4693	HP:0000505	Visual impairment
OMIM:300216	NDP	4693	HP:0000518	Cataract
OMIM:300216	NDP	4693	HP:0001103	Abnormality of the macula
OMIM:300216	NDP	4693	HP:0000541	Retinal detachment
OMIM:300216	NDP	4693	HP:0008046	Abnormality of the retinal vasculature
OMIM:300216	NDP	4693	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:300216	NDP	4693	HP:0000593	Abnormality of the anterior chamber
OMIM:300216	NDP	4693	HP:0000486	Strabismus
OMIM:300216	NDP	4693	HP:0000501	Glaucoma
OMIM:608840	POMT2	29954	HP:0003741	Congenital muscular dystrophy
OMIM:608840	POMT2	29954	HP:0001263	Global developmental delay
OMIM:608840	POMT2	29954	HP:0009473	Joint contracture of the hand
OMIM:608840	POMT2	29954	HP:0001771	Achilles tendon contracture
OMIM:608840	POMT2	29954	HP:0001302	Pachygyria
OMIM:608840	POMT2	29954	HP:0001270	Motor delay
OMIM:608840	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:608840	POMT2	29954	HP:0002365	Hypoplasia of the brainstem
OMIM:608840	POMT2	29954	HP:0010628	Facial palsy
OMIM:608840	POMT2	29954	HP:0004322	Short stature
OMIM:608840	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:608840	POMT2	29954	HP:0003701	Proximal muscle weakness
OMIM:608840	POMT2	29954	HP:0002269	Abnormality of neuronal migration
OMIM:608840	POMT2	29954	HP:0001252	Muscular hypotonia
OMIM:608840	POMT2	29954	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:608840	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608840	POMT2	29954	HP:0003487	Babinski sign
OMIM:608840	POMT2	29954	HP:0000158	Macroglossia
OMIM:608840	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:608840	POMT2	29954	HP:0003593	Infantile onset
OMIM:608840	POMT2	29954	HP:0002187	Intellectual disability, profound
OMIM:608840	POMT2	29954	HP:0002987	Elbow flexion contracture
OMIM:608840	POMT2	29954	HP:0002518	Abnormality of the periventricular white matter
OMIM:608840	POMT2	29954	HP:0003458	EMG: myopathic abnormalities
OMIM:608840	GMPPB	29925	HP:0003741	Congenital muscular dystrophy
OMIM:608840	GMPPB	29925	HP:0001263	Global developmental delay
OMIM:608840	GMPPB	29925	HP:0009473	Joint contracture of the hand
OMIM:608840	GMPPB	29925	HP:0001771	Achilles tendon contracture
OMIM:608840	GMPPB	29925	HP:0001302	Pachygyria
OMIM:608840	GMPPB	29925	HP:0001270	Motor delay
OMIM:608840	GMPPB	29925	HP:0003560	Muscular dystrophy
OMIM:608840	GMPPB	29925	HP:0002365	Hypoplasia of the brainstem
OMIM:608840	GMPPB	29925	HP:0010628	Facial palsy
OMIM:608840	GMPPB	29925	HP:0004322	Short stature
OMIM:608840	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:608840	GMPPB	29925	HP:0003701	Proximal muscle weakness
OMIM:608840	GMPPB	29925	HP:0002269	Abnormality of neuronal migration
OMIM:608840	GMPPB	29925	HP:0001252	Muscular hypotonia
OMIM:608840	GMPPB	29925	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:608840	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608840	GMPPB	29925	HP:0003487	Babinski sign
OMIM:608840	GMPPB	29925	HP:0000158	Macroglossia
OMIM:608840	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:608840	GMPPB	29925	HP:0003593	Infantile onset
OMIM:608840	GMPPB	29925	HP:0002187	Intellectual disability, profound
OMIM:608840	GMPPB	29925	HP:0002987	Elbow flexion contracture
OMIM:608840	GMPPB	29925	HP:0002518	Abnormality of the periventricular white matter
OMIM:608840	GMPPB	29925	HP:0003458	EMG: myopathic abnormalities
OMIM:608840	POMT1	10585	HP:0003741	Congenital muscular dystrophy
OMIM:608840	POMT1	10585	HP:0001263	Global developmental delay
OMIM:608840	POMT1	10585	HP:0009473	Joint contracture of the hand
OMIM:608840	POMT1	10585	HP:0001771	Achilles tendon contracture
OMIM:608840	POMT1	10585	HP:0001302	Pachygyria
OMIM:608840	POMT1	10585	HP:0001270	Motor delay
OMIM:608840	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:608840	POMT1	10585	HP:0002365	Hypoplasia of the brainstem
OMIM:608840	POMT1	10585	HP:0010628	Facial palsy
OMIM:608840	POMT1	10585	HP:0004322	Short stature
OMIM:608840	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:608840	POMT1	10585	HP:0003701	Proximal muscle weakness
OMIM:608840	POMT1	10585	HP:0002269	Abnormality of neuronal migration
OMIM:608840	POMT1	10585	HP:0001252	Muscular hypotonia
OMIM:608840	POMT1	10585	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:608840	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608840	POMT1	10585	HP:0003487	Babinski sign
OMIM:608840	POMT1	10585	HP:0000158	Macroglossia
OMIM:608840	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:608840	POMT1	10585	HP:0003593	Infantile onset
OMIM:608840	POMT1	10585	HP:0002187	Intellectual disability, profound
OMIM:608840	POMT1	10585	HP:0002987	Elbow flexion contracture
OMIM:608840	POMT1	10585	HP:0002518	Abnormality of the periventricular white matter
OMIM:608840	POMT1	10585	HP:0003458	EMG: myopathic abnormalities
OMIM:608840	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:608840	FKRP	79147	HP:0001263	Global developmental delay
OMIM:608840	FKRP	79147	HP:0009473	Joint contracture of the hand
OMIM:608840	FKRP	79147	HP:0001771	Achilles tendon contracture
OMIM:608840	FKRP	79147	HP:0001302	Pachygyria
OMIM:608840	FKRP	79147	HP:0001270	Motor delay
OMIM:608840	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:608840	FKRP	79147	HP:0002365	Hypoplasia of the brainstem
OMIM:608840	FKRP	79147	HP:0010628	Facial palsy
OMIM:608840	FKRP	79147	HP:0004322	Short stature
OMIM:608840	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:608840	FKRP	79147	HP:0003701	Proximal muscle weakness
OMIM:608840	FKRP	79147	HP:0002269	Abnormality of neuronal migration
OMIM:608840	FKRP	79147	HP:0001252	Muscular hypotonia
OMIM:608840	FKRP	79147	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:608840	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608840	FKRP	79147	HP:0003487	Babinski sign
OMIM:608840	FKRP	79147	HP:0000158	Macroglossia
OMIM:608840	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:608840	FKRP	79147	HP:0003593	Infantile onset
OMIM:608840	FKRP	79147	HP:0002187	Intellectual disability, profound
OMIM:608840	FKRP	79147	HP:0002987	Elbow flexion contracture
OMIM:608840	FKRP	79147	HP:0002518	Abnormality of the periventricular white matter
OMIM:608840	FKRP	79147	HP:0003458	EMG: myopathic abnormalities
OMIM:608840	LARGE	9215	HP:0003741	Congenital muscular dystrophy
OMIM:608840	LARGE	9215	HP:0001263	Global developmental delay
OMIM:608840	LARGE	9215	HP:0009473	Joint contracture of the hand
OMIM:608840	LARGE	9215	HP:0001771	Achilles tendon contracture
OMIM:608840	LARGE	9215	HP:0001302	Pachygyria
OMIM:608840	LARGE	9215	HP:0001270	Motor delay
OMIM:608840	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:608840	LARGE	9215	HP:0002365	Hypoplasia of the brainstem
OMIM:608840	LARGE	9215	HP:0010628	Facial palsy
OMIM:608840	LARGE	9215	HP:0004322	Short stature
OMIM:608840	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:608840	LARGE	9215	HP:0003701	Proximal muscle weakness
OMIM:608840	LARGE	9215	HP:0002269	Abnormality of neuronal migration
OMIM:608840	LARGE	9215	HP:0001252	Muscular hypotonia
OMIM:608840	LARGE	9215	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:608840	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608840	LARGE	9215	HP:0003487	Babinski sign
OMIM:608840	LARGE	9215	HP:0000158	Macroglossia
OMIM:608840	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:608840	LARGE	9215	HP:0003593	Infantile onset
OMIM:608840	LARGE	9215	HP:0002187	Intellectual disability, profound
OMIM:608840	LARGE	9215	HP:0002987	Elbow flexion contracture
OMIM:608840	LARGE	9215	HP:0002518	Abnormality of the periventricular white matter
OMIM:608840	LARGE	9215	HP:0003458	EMG: myopathic abnormalities
OMIM:245800	PNPLA6	10908	HP:0001513	Obesity
OMIM:245800	PNPLA6	10908	HP:0000083	Renal insufficiency
OMIM:245800	PNPLA6	10908	HP:0004374	Hemiplegia/hemiparesis
OMIM:245800	PNPLA6	10908	HP:0008736	Hypoplasia of penis
OMIM:245800	PNPLA6	10908	HP:0000028	Cryptorchidism
OMIM:245800	PNPLA6	10908	HP:0000639	Nystagmus
OMIM:245800	PNPLA6	10908	HP:0002648	Abnormality of calvarial morphology
OMIM:245800	PNPLA6	10908	HP:0000046	Scrotal hypoplasia
OMIM:245800	PNPLA6	10908	HP:0000518	Cataract
OMIM:245800	PNPLA6	10908	HP:0001249	Intellectual disability
OMIM:245800	PNPLA6	10908	HP:0100627	Displacement of the external urethral meatus
OMIM:245800	PNPLA6	10908	HP:0100543	Cognitive impairment
OMIM:245800	PNPLA6	10908	HP:0002311	Incoordination
OMIM:245800	PNPLA6	10908	HP:0005978	Type II diabetes mellitus
OMIM:245800	PNPLA6	10908	HP:0006101	Finger syndactyly
OMIM:245800	PNPLA6	10908	HP:0000007	Autosomal recessive inheritance
OMIM:245800	PNPLA6	10908	HP:0000368	Low-set, posteriorly rotated ears
OMIM:245800	PNPLA6	10908	HP:0000954	Single transverse palmar crease
OMIM:245800	PNPLA6	10908	HP:0001251	Ataxia
OMIM:245800	PNPLA6	10908	HP:0000580	Pigmentary retinopathy
OMIM:245800	PNPLA6	10908	HP:0001258	Spastic paraplegia
OMIM:245800	PNPLA6	10908	HP:0000286	Epicanthus
OMIM:245800	PNPLA6	10908	HP:0000407	Sensorineural hearing impairment
OMIM:245800	PNPLA6	10908	HP:0000612	Iris coloboma
OMIM:245800	PNPLA6	10908	HP:0000486	Strabismus
OMIM:245800	PNPLA6	10908	HP:0000054	Micropenis
OMIM:245800	PNPLA6	10908	HP:0001155	Abnormality of the hand
OMIM:245800	PNPLA6	10908	HP:0001156	Brachydactyly syndrome
OMIM:245800	PNPLA6	10908	HP:0004322	Short stature
OMIM:245800	PNPLA6	10908	HP:0001161	Hand polydactyly
OMIM:243300	ATP8B1	5205	HP:0000989	Pruritus
OMIM:243300	ATP8B1	5205	HP:0002908	Conjugated hyperbilirubinemia
OMIM:243300	ATP8B1	5205	HP:0001733	Pancreatitis
OMIM:243300	ATP8B1	5205	HP:0001406	Intrahepatic cholestasis
OMIM:243300	ATP8B1	5205	HP:0000007	Autosomal recessive inheritance
OMIM:243300	ATP8B1	5205	HP:0002240	Hepatomegaly
OMIM:243300	ATP8B1	5205	HP:0002613	Biliary cirrhosis
OMIM:605714	APP	351	HP:0004372	Reduced consciousness/confusion
OMIM:605714	APP	351	HP:0002376	Developmental regression
OMIM:605714	APP	351	HP:0002514	Cerebral calcification
OMIM:605714	APP	351	HP:0008872	Feeding difficulties in infancy
OMIM:605714	APP	351	HP:0003401	Paresthesia
OMIM:605714	APP	351	HP:0002170	Intracranial hemorrhage
OMIM:605714	APP	351	HP:0000006	Autosomal dominant inheritance
OMIM:605714	APP	351	HP:0000726	Dementia
OMIM:605714	APP	351	HP:0011695	Cerebellar hemorrhage
OMIM:605714	APP	351	HP:0000708	Behavioral abnormality
OMIM:605714	APP	351	HP:0001250	Seizures
OMIM:605714	APP	351	HP:0002637	Cerebral ischemia
OMIM:605714	APP	351	HP:0001297	Stroke
OMIM:605714	APP	351	HP:0001288	Gait disturbance
OMIM:605714	APP	351	HP:0002076	Migraine
OMIM:605714	APP	351	HP:0002354	Memory impairment
OMIM:605714	APP	351	HP:0004305	Involuntary movements
OMIM:155755	CDKN2A	1029	HP:0000006	Autosomal dominant inheritance
OMIM:155755	CDKN2A	1029	HP:0002885	Medulloblastoma
OMIM:155755	CDKN2A	1029	HP:0012056	Cutaneous melanoma
OMIM:155755	CDKN2A	1029	HP:0002858	Meningioma
OMIM:155755	CDKN2A	1029	HP:0009592	Astrocytoma
OMIM:613823	ATR	545	HP:0003683	Large beaked nose
OMIM:613823	ATR	545	HP:0000426	Prominent nasal bridge
OMIM:613823	ATR	545	HP:0000252	Microcephaly
OMIM:613823	ATR	545	HP:0000007	Autosomal recessive inheritance
OMIM:613823	ATR	545	HP:0002536	Abnormal cortical gyration
OMIM:613823	ATR	545	HP:0000278	Retrognathia
OMIM:613823	ATR	545	HP:0000340	Sloping forehead
OMIM:613823	CEP152	22995	HP:0003683	Large beaked nose
OMIM:613823	CEP152	22995	HP:0000426	Prominent nasal bridge
OMIM:613823	CEP152	22995	HP:0000252	Microcephaly
OMIM:613823	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:613823	CEP152	22995	HP:0002536	Abnormal cortical gyration
OMIM:613823	CEP152	22995	HP:0000278	Retrognathia
OMIM:613823	CEP152	22995	HP:0000340	Sloping forehead
OMIM:613823	CENPE	1062	HP:0003683	Large beaked nose
OMIM:613823	CENPE	1062	HP:0000426	Prominent nasal bridge
OMIM:613823	CENPE	1062	HP:0000252	Microcephaly
OMIM:613823	CENPE	1062	HP:0000007	Autosomal recessive inheritance
OMIM:613823	CENPE	1062	HP:0002536	Abnormal cortical gyration
OMIM:613823	CENPE	1062	HP:0000278	Retrognathia
OMIM:613823	CENPE	1062	HP:0000340	Sloping forehead
OMIM:613823	CENPJ	55835	HP:0003683	Large beaked nose
OMIM:613823	CENPJ	55835	HP:0000426	Prominent nasal bridge
OMIM:613823	CENPJ	55835	HP:0000252	Microcephaly
OMIM:613823	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:613823	CENPJ	55835	HP:0002536	Abnormal cortical gyration
OMIM:613823	CENPJ	55835	HP:0000278	Retrognathia
OMIM:613823	CENPJ	55835	HP:0000340	Sloping forehead
OMIM:613823	PCNT	5116	HP:0003683	Large beaked nose
OMIM:613823	PCNT	5116	HP:0000426	Prominent nasal bridge
OMIM:613823	PCNT	5116	HP:0000252	Microcephaly
OMIM:613823	PCNT	5116	HP:0000007	Autosomal recessive inheritance
OMIM:613823	PCNT	5116	HP:0002536	Abnormal cortical gyration
OMIM:613823	PCNT	5116	HP:0000278	Retrognathia
OMIM:613823	PCNT	5116	HP:0000340	Sloping forehead
OMIM:613823	RBBP8	5932	HP:0003683	Large beaked nose
OMIM:613823	RBBP8	5932	HP:0000426	Prominent nasal bridge
OMIM:613823	RBBP8	5932	HP:0000252	Microcephaly
OMIM:613823	RBBP8	5932	HP:0000007	Autosomal recessive inheritance
OMIM:613823	RBBP8	5932	HP:0002536	Abnormal cortical gyration
OMIM:613823	RBBP8	5932	HP:0000278	Retrognathia
OMIM:613823	RBBP8	5932	HP:0000340	Sloping forehead
OMIM:613823	PLK4	10733	HP:0003683	Large beaked nose
OMIM:613823	PLK4	10733	HP:0000426	Prominent nasal bridge
OMIM:613823	PLK4	10733	HP:0000252	Microcephaly
OMIM:613823	PLK4	10733	HP:0000007	Autosomal recessive inheritance
OMIM:613823	PLK4	10733	HP:0002536	Abnormal cortical gyration
OMIM:613823	PLK4	10733	HP:0000278	Retrognathia
OMIM:613823	PLK4	10733	HP:0000340	Sloping forehead
OMIM:613823	ATRIP	84126	HP:0003683	Large beaked nose
OMIM:613823	ATRIP	84126	HP:0000426	Prominent nasal bridge
OMIM:613823	ATRIP	84126	HP:0000252	Microcephaly
OMIM:613823	ATRIP	84126	HP:0000007	Autosomal recessive inheritance
OMIM:613823	ATRIP	84126	HP:0002536	Abnormal cortical gyration
OMIM:613823	ATRIP	84126	HP:0000278	Retrognathia
OMIM:613823	ATRIP	84126	HP:0000340	Sloping forehead
OMIM:603903	HBB	3043	HP:0002240	Hepatomegaly
OMIM:603903	HBB	3043	HP:0000488	Retinopathy
OMIM:603903	HBB	3043	HP:0001744	Splenomegaly
OMIM:603903	HBB	3043	HP:0001081	Cholelithiasis
OMIM:603903	HBB	3043	HP:0001640	Cardiomegaly
OMIM:603903	HBB	3043	HP:0000952	Jaundice
OMIM:603903	HBB	3043	HP:0000790	Hematuria
OMIM:603903	HBB	3043	HP:0001878	Hemolytic anemia
OMIM:603903	HBB	3043	HP:0000007	Autosomal recessive inheritance
OMIM:111400	A4GALT	53947	HP:0000006	Autosomal dominant inheritance
OMIM:612348	PLAT	5327	HP:0000006	Autosomal dominant inheritance
OMIM:616390	ERCC2	2068	HP:0002299	Brittle hair
OMIM:616390	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:616390	ERCC2	2068	HP:0004322	Short stature
OMIM:616390	ERCC2	2068	HP:0002664	Neoplasm
OMIM:616390	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
OMIM:616390	ERCC2	2068	HP:0001249	Intellectual disability
OMIM:616390	ERCC2	2068	HP:0100543	Cognitive impairment
OMIM:616390	ERCC2	2068	HP:0000144	Decreased fertility
OMIM:616390	MPLKIP	136647	HP:0002299	Brittle hair
OMIM:616390	MPLKIP	136647	HP:0000007	Autosomal recessive inheritance
OMIM:616390	MPLKIP	136647	HP:0004322	Short stature
OMIM:616390	MPLKIP	136647	HP:0002664	Neoplasm
OMIM:616390	MPLKIP	136647	HP:0000992	Cutaneous photosensitivity
OMIM:616390	MPLKIP	136647	HP:0001249	Intellectual disability
OMIM:616390	MPLKIP	136647	HP:0100543	Cognitive impairment
OMIM:616390	MPLKIP	136647	HP:0000144	Decreased fertility
OMIM:616390	GTF2H5	404672	HP:0002299	Brittle hair
OMIM:616390	GTF2H5	404672	HP:0000007	Autosomal recessive inheritance
OMIM:616390	GTF2H5	404672	HP:0004322	Short stature
OMIM:616390	GTF2H5	404672	HP:0002664	Neoplasm
OMIM:616390	GTF2H5	404672	HP:0000992	Cutaneous photosensitivity
OMIM:616390	GTF2H5	404672	HP:0001249	Intellectual disability
OMIM:616390	GTF2H5	404672	HP:0100543	Cognitive impairment
OMIM:616390	GTF2H5	404672	HP:0000144	Decreased fertility
OMIM:616390	ERCC3	2071	HP:0002299	Brittle hair
OMIM:616390	ERCC3	2071	HP:0000007	Autosomal recessive inheritance
OMIM:616390	ERCC3	2071	HP:0004322	Short stature
OMIM:616390	ERCC3	2071	HP:0002664	Neoplasm
OMIM:616390	ERCC3	2071	HP:0000992	Cutaneous photosensitivity
OMIM:616390	ERCC3	2071	HP:0001249	Intellectual disability
OMIM:616390	ERCC3	2071	HP:0100543	Cognitive impairment
OMIM:616390	ERCC3	2071	HP:0000144	Decreased fertility
OMIM:616390	RNF113A	7737	HP:0002299	Brittle hair
OMIM:616390	RNF113A	7737	HP:0000007	Autosomal recessive inheritance
OMIM:616390	RNF113A	7737	HP:0004322	Short stature
OMIM:616390	RNF113A	7737	HP:0002664	Neoplasm
OMIM:616390	RNF113A	7737	HP:0000992	Cutaneous photosensitivity
OMIM:616390	RNF113A	7737	HP:0001249	Intellectual disability
OMIM:616390	RNF113A	7737	HP:0100543	Cognitive impairment
OMIM:616390	RNF113A	7737	HP:0000144	Decreased fertility
OMIM:612390	TSEN54	283989	HP:0000505	Visual impairment
OMIM:612390	TSEN54	283989	HP:0001332	Dystonia
OMIM:612390	TSEN54	283989	HP:0000252	Microcephaly
OMIM:612390	TSEN54	283989	HP:0002072	Chorea
OMIM:612390	TSEN54	283989	HP:0000007	Autosomal recessive inheritance
OMIM:612390	TSEN54	283989	HP:0001320	Cerebellar vermis hypoplasia
OMIM:612390	TSEN34	79042	HP:0000505	Visual impairment
OMIM:612390	TSEN34	79042	HP:0001332	Dystonia
OMIM:612390	TSEN34	79042	HP:0000252	Microcephaly
OMIM:612390	TSEN34	79042	HP:0002072	Chorea
OMIM:612390	TSEN34	79042	HP:0000007	Autosomal recessive inheritance
OMIM:612390	TSEN34	79042	HP:0001320	Cerebellar vermis hypoplasia
OMIM:612390	SEPSECS	51091	HP:0000505	Visual impairment
OMIM:612390	SEPSECS	51091	HP:0001332	Dystonia
OMIM:612390	SEPSECS	51091	HP:0000252	Microcephaly
OMIM:612390	SEPSECS	51091	HP:0002072	Chorea
OMIM:612390	SEPSECS	51091	HP:0000007	Autosomal recessive inheritance
OMIM:612390	SEPSECS	51091	HP:0001320	Cerebellar vermis hypoplasia
OMIM:612390	TSEN2	80746	HP:0000505	Visual impairment
OMIM:612390	TSEN2	80746	HP:0001332	Dystonia
OMIM:612390	TSEN2	80746	HP:0000252	Microcephaly
OMIM:612390	TSEN2	80746	HP:0002072	Chorea
OMIM:612390	TSEN2	80746	HP:0000007	Autosomal recessive inheritance
OMIM:612390	TSEN2	80746	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615228	ATP5A1	498	HP:0003577	Congenital onset
OMIM:615228	ATP5A1	498	HP:0000737	Irritability
OMIM:615228	ATP5A1	498	HP:0000639	Nystagmus
OMIM:615228	ATP5A1	498	HP:0002104	Apnea
OMIM:615228	ATP5A1	498	HP:0001298	Encephalopathy
OMIM:615228	ATP5A1	498	HP:0000007	Autosomal recessive inheritance
OMIM:615228	ATP5A1	498	HP:0002089	Pulmonary hypoplasia
OMIM:615228	ATP5E	514	HP:0003577	Congenital onset
OMIM:615228	ATP5E	514	HP:0000737	Irritability
OMIM:615228	ATP5E	514	HP:0000639	Nystagmus
OMIM:615228	ATP5E	514	HP:0002104	Apnea
OMIM:615228	ATP5E	514	HP:0001298	Encephalopathy
OMIM:615228	ATP5E	514	HP:0000007	Autosomal recessive inheritance
OMIM:615228	ATP5E	514	HP:0002089	Pulmonary hypoplasia
OMIM:615228	ATPAF1	64756	HP:0003577	Congenital onset
OMIM:615228	ATPAF1	64756	HP:0000737	Irritability
OMIM:615228	ATPAF1	64756	HP:0000639	Nystagmus
OMIM:615228	ATPAF1	64756	HP:0002104	Apnea
OMIM:615228	ATPAF1	64756	HP:0001298	Encephalopathy
OMIM:615228	ATPAF1	64756	HP:0000007	Autosomal recessive inheritance
OMIM:615228	ATPAF1	64756	HP:0002089	Pulmonary hypoplasia
OMIM:615228	ATPAF2	91647	HP:0003577	Congenital onset
OMIM:615228	ATPAF2	91647	HP:0000737	Irritability
OMIM:615228	ATPAF2	91647	HP:0000639	Nystagmus
OMIM:615228	ATPAF2	91647	HP:0002104	Apnea
OMIM:615228	ATPAF2	91647	HP:0001298	Encephalopathy
OMIM:615228	ATPAF2	91647	HP:0000007	Autosomal recessive inheritance
OMIM:615228	ATPAF2	91647	HP:0002089	Pulmonary hypoplasia
OMIM:161800	ACTA1	58	HP:0001319	Neonatal hypotonia
OMIM:161800	ACTA1	58	HP:0002650	Scoliosis
OMIM:161800	ACTA1	58	HP:0001761	Pes cavus
OMIM:161800	ACTA1	58	HP:0003307	Hyperlordosis
OMIM:161800	ACTA1	58	HP:0001265	Hyporeflexia
OMIM:161800	ACTA1	58	HP:0002063	Rigidity
OMIM:161800	ACTA1	58	HP:0003812	Phenotypic variability
OMIM:161800	ACTA1	58	HP:0001347	Hyperreflexia
OMIM:161800	ACTA1	58	HP:0001558	Decreased fetal movement
OMIM:161800	ACTA1	58	HP:0003445	EMG: neuropathic changes
OMIM:161800	ACTA1	58	HP:0000278	Retrognathia
OMIM:161800	ACTA1	58	HP:0003690	Limb muscle weakness
OMIM:161800	ACTA1	58	HP:0001644	Dilated cardiomyopathy
OMIM:161800	ACTA1	58	HP:0003306	Spinal rigidity
OMIM:161800	ACTA1	58	HP:0000218	High palate
OMIM:161800	ACTA1	58	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:161800	ACTA1	58	HP:0003810	Late-onset distal muscle weakness
OMIM:161800	ACTA1	58	HP:0001276	Hypertonia
OMIM:161800	ACTA1	58	HP:0001425	Heterogeneous
OMIM:161800	ACTA1	58	HP:0001561	Polyhydramnios
OMIM:161800	ACTA1	58	HP:0010628	Facial palsy
OMIM:161800	ACTA1	58	HP:0002804	Arthrogryposis multiplex congenita
OMIM:161800	ACTA1	58	HP:0003458	EMG: myopathic abnormalities
OMIM:161800	ACTA1	58	HP:0000298	Mask-like facies
OMIM:161800	ACTA1	58	HP:0002015	Dysphagia
OMIM:161800	ACTA1	58	HP:0001284	Areflexia
OMIM:161800	ACTA1	58	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:161800	ACTA1	58	HP:0008872	Feeding difficulties in infancy
OMIM:161800	ACTA1	58	HP:0000006	Autosomal dominant inheritance
OMIM:161800	ACTA1	58	HP:0001270	Motor delay
OMIM:161800	ACTA1	58	HP:0002359	Frequent falls
OMIM:161800	ACTA1	58	HP:0003701	Proximal muscle weakness
OMIM:161800	ACTA1	58	HP:0001283	Bulbar palsy
OMIM:161800	ACTA1	58	HP:0002515	Waddling gait
OMIM:161800	ACTA1	58	HP:0003324	Generalized muscle weakness
OMIM:612079	RBM28	55131	HP:0002751	Kyphoscoliosis
OMIM:612079	RBM28	55131	HP:0000135	Hypogonadism
OMIM:612079	RBM28	55131	HP:0002493	Upper motor neuron dysfunction
OMIM:612079	RBM28	55131	HP:0000668	Hypodontia
OMIM:612079	RBM28	55131	HP:0000995	Melanocytic nevus
OMIM:612079	RBM28	55131	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
OMIM:612079	RBM28	55131	HP:0001371	Flexion contracture
OMIM:612079	RBM28	55131	HP:0001249	Intellectual disability
OMIM:612079	RBM28	55131	HP:0000953	Hyperpigmentation of the skin
OMIM:612079	RBM28	55131	HP:0001596	Alopecia
OMIM:612079	RBM28	55131	HP:0000007	Autosomal recessive inheritance
OMIM:612079	RBM28	55131	HP:0001002	Decreased subcutaneous fat
OMIM:612079	RBM28	55131	HP:0000252	Microcephaly
OMIM:612079	RBM28	55131	HP:0000670	Carious teeth
OMIM:612079	RBM28	55131	HP:0003202	Skeletal muscle atrophy
OMIM:614565	SLC24A1	9187	HP:0001419	X-linked recessive inheritance
OMIM:614565	SLC24A1	9187	HP:0007663	Reduced visual acuity
OMIM:614565	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:614565	SLC24A1	9187	HP:0000639	Nystagmus
OMIM:614565	SLC24A1	9187	HP:0000486	Strabismus
OMIM:614565	SLC24A1	9187	HP:0000505	Visual impairment
OMIM:614565	SLC24A1	9187	HP:0000007	Autosomal recessive inheritance
OMIM:614565	GRM6	2916	HP:0001419	X-linked recessive inheritance
OMIM:614565	GRM6	2916	HP:0007663	Reduced visual acuity
OMIM:614565	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:614565	GRM6	2916	HP:0000639	Nystagmus
OMIM:614565	GRM6	2916	HP:0000486	Strabismus
OMIM:614565	GRM6	2916	HP:0000505	Visual impairment
OMIM:614565	GRM6	2916	HP:0000007	Autosomal recessive inheritance
OMIM:614565	PDE6B	5158	HP:0001419	X-linked recessive inheritance
OMIM:614565	PDE6B	5158	HP:0007663	Reduced visual acuity
OMIM:614565	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:614565	PDE6B	5158	HP:0000639	Nystagmus
OMIM:614565	PDE6B	5158	HP:0000486	Strabismus
OMIM:614565	PDE6B	5158	HP:0000505	Visual impairment
OMIM:614565	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:614565	CACNA1F	778	HP:0001419	X-linked recessive inheritance
OMIM:614565	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:614565	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:614565	CACNA1F	778	HP:0000639	Nystagmus
OMIM:614565	CACNA1F	778	HP:0000486	Strabismus
OMIM:614565	CACNA1F	778	HP:0000505	Visual impairment
OMIM:614565	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:614565	LRIT3	345193	HP:0001419	X-linked recessive inheritance
OMIM:614565	LRIT3	345193	HP:0007663	Reduced visual acuity
OMIM:614565	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:614565	LRIT3	345193	HP:0000639	Nystagmus
OMIM:614565	LRIT3	345193	HP:0000486	Strabismus
OMIM:614565	LRIT3	345193	HP:0000505	Visual impairment
OMIM:614565	LRIT3	345193	HP:0000007	Autosomal recessive inheritance
OMIM:614565	CABP4	57010	HP:0001419	X-linked recessive inheritance
OMIM:614565	CABP4	57010	HP:0007663	Reduced visual acuity
OMIM:614565	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:614565	CABP4	57010	HP:0000639	Nystagmus
OMIM:614565	CABP4	57010	HP:0000486	Strabismus
OMIM:614565	CABP4	57010	HP:0000505	Visual impairment
OMIM:614565	CABP4	57010	HP:0000007	Autosomal recessive inheritance
OMIM:614565	CACNA2D4	93589	HP:0001419	X-linked recessive inheritance
OMIM:614565	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:614565	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:614565	CACNA2D4	93589	HP:0000639	Nystagmus
OMIM:614565	CACNA2D4	93589	HP:0000486	Strabismus
OMIM:614565	CACNA2D4	93589	HP:0000505	Visual impairment
OMIM:614565	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:614565	TRPM1	4308	HP:0001419	X-linked recessive inheritance
OMIM:614565	TRPM1	4308	HP:0007663	Reduced visual acuity
OMIM:614565	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:614565	TRPM1	4308	HP:0000639	Nystagmus
OMIM:614565	TRPM1	4308	HP:0000486	Strabismus
OMIM:614565	TRPM1	4308	HP:0000505	Visual impairment
OMIM:614565	TRPM1	4308	HP:0000007	Autosomal recessive inheritance
OMIM:614565	GPR179	440435	HP:0001419	X-linked recessive inheritance
OMIM:614565	GPR179	440435	HP:0007663	Reduced visual acuity
OMIM:614565	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:614565	GPR179	440435	HP:0000639	Nystagmus
OMIM:614565	GPR179	440435	HP:0000486	Strabismus
OMIM:614565	GPR179	440435	HP:0000505	Visual impairment
OMIM:614565	GPR179	440435	HP:0000007	Autosomal recessive inheritance
OMIM:614565	SAG	6295	HP:0001419	X-linked recessive inheritance
OMIM:614565	SAG	6295	HP:0007663	Reduced visual acuity
OMIM:614565	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:614565	SAG	6295	HP:0000639	Nystagmus
OMIM:614565	SAG	6295	HP:0000486	Strabismus
OMIM:614565	SAG	6295	HP:0000505	Visual impairment
OMIM:614565	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:614565	RHO	6010	HP:0001419	X-linked recessive inheritance
OMIM:614565	RHO	6010	HP:0007663	Reduced visual acuity
OMIM:614565	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:614565	RHO	6010	HP:0000639	Nystagmus
OMIM:614565	RHO	6010	HP:0000486	Strabismus
OMIM:614565	RHO	6010	HP:0000505	Visual impairment
OMIM:614565	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:614565	NYX	60506	HP:0001419	X-linked recessive inheritance
OMIM:614565	NYX	60506	HP:0007663	Reduced visual acuity
OMIM:614565	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:614565	NYX	60506	HP:0000639	Nystagmus
OMIM:614565	NYX	60506	HP:0000486	Strabismus
OMIM:614565	NYX	60506	HP:0000505	Visual impairment
OMIM:614565	NYX	60506	HP:0000007	Autosomal recessive inheritance
OMIM:614565	GNAT1	2779	HP:0001419	X-linked recessive inheritance
OMIM:614565	GNAT1	2779	HP:0007663	Reduced visual acuity
OMIM:614565	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:614565	GNAT1	2779	HP:0000639	Nystagmus
OMIM:614565	GNAT1	2779	HP:0000486	Strabismus
OMIM:614565	GNAT1	2779	HP:0000505	Visual impairment
OMIM:614565	GNAT1	2779	HP:0000007	Autosomal recessive inheritance
OMIM:614565	GRK1	6011	HP:0001419	X-linked recessive inheritance
OMIM:614565	GRK1	6011	HP:0007663	Reduced visual acuity
OMIM:614565	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:614565	GRK1	6011	HP:0000639	Nystagmus
OMIM:614565	GRK1	6011	HP:0000486	Strabismus
OMIM:614565	GRK1	6011	HP:0000505	Visual impairment
OMIM:614565	GRK1	6011	HP:0000007	Autosomal recessive inheritance
OMIM:600775	ALX4	60529	HP:0100543	Cognitive impairment
OMIM:600775	ALX4	60529	HP:0000256	Macrocephaly
OMIM:600775	ALX4	60529	HP:0011800	Hypoplasia of midface
OMIM:600775	ALX4	60529	HP:0001276	Hypertonia
OMIM:600775	ALX4	60529	HP:0000324	Facial asymmetry
OMIM:600775	ALX4	60529	HP:0000506	Telecanthus
OMIM:600775	ALX4	60529	HP:0004443	Lambdoidal craniosynostosis
OMIM:600775	ALX4	60529	HP:0000581	Blepharophimosis
OMIM:600775	ALX4	60529	HP:0003196	Short nose
OMIM:600775	ALX4	60529	HP:0001357	Plagiocephaly
OMIM:600775	ALX4	60529	HP:0000272	Malar flattening
OMIM:600775	ALX4	60529	HP:0100830	Round ear
OMIM:600775	ALX4	60529	HP:0002007	Frontal bossing
OMIM:600775	ALX4	60529	HP:0005469	Flat occiput
OMIM:600775	ALX4	60529	HP:0008572	External ear malformation
OMIM:600775	ALX4	60529	HP:0000238	Hydrocephalus
OMIM:600775	ALX4	60529	HP:0001252	Muscular hypotonia
OMIM:600775	ALX4	60529	HP:0001363	Craniosynostosis
OMIM:600775	ALX4	60529	HP:0000006	Autosomal dominant inheritance
OMIM:600775	ALX4	60529	HP:0002714	Downturned corners of mouth
OMIM:600775	TWIST1	7291	HP:0100543	Cognitive impairment
OMIM:600775	TWIST1	7291	HP:0000256	Macrocephaly
OMIM:600775	TWIST1	7291	HP:0011800	Hypoplasia of midface
OMIM:600775	TWIST1	7291	HP:0001276	Hypertonia
OMIM:600775	TWIST1	7291	HP:0000324	Facial asymmetry
OMIM:600775	TWIST1	7291	HP:0000506	Telecanthus
OMIM:600775	TWIST1	7291	HP:0004443	Lambdoidal craniosynostosis
OMIM:600775	TWIST1	7291	HP:0000581	Blepharophimosis
OMIM:600775	TWIST1	7291	HP:0003196	Short nose
OMIM:600775	TWIST1	7291	HP:0001357	Plagiocephaly
OMIM:600775	TWIST1	7291	HP:0000272	Malar flattening
OMIM:600775	TWIST1	7291	HP:0100830	Round ear
OMIM:600775	TWIST1	7291	HP:0002007	Frontal bossing
OMIM:600775	TWIST1	7291	HP:0005469	Flat occiput
OMIM:600775	TWIST1	7291	HP:0008572	External ear malformation
OMIM:600775	TWIST1	7291	HP:0000238	Hydrocephalus
OMIM:600775	TWIST1	7291	HP:0001252	Muscular hypotonia
OMIM:600775	TWIST1	7291	HP:0001363	Craniosynostosis
OMIM:600775	TWIST1	7291	HP:0000006	Autosomal dominant inheritance
OMIM:600775	TWIST1	7291	HP:0002714	Downturned corners of mouth
OMIM:600775	ERF	2077	HP:0100543	Cognitive impairment
OMIM:600775	ERF	2077	HP:0000256	Macrocephaly
OMIM:600775	ERF	2077	HP:0011800	Hypoplasia of midface
OMIM:600775	ERF	2077	HP:0001276	Hypertonia
OMIM:600775	ERF	2077	HP:0000324	Facial asymmetry
OMIM:600775	ERF	2077	HP:0000506	Telecanthus
OMIM:600775	ERF	2077	HP:0004443	Lambdoidal craniosynostosis
OMIM:600775	ERF	2077	HP:0000581	Blepharophimosis
OMIM:600775	ERF	2077	HP:0003196	Short nose
OMIM:600775	ERF	2077	HP:0001357	Plagiocephaly
OMIM:600775	ERF	2077	HP:0000272	Malar flattening
OMIM:600775	ERF	2077	HP:0100830	Round ear
OMIM:600775	ERF	2077	HP:0002007	Frontal bossing
OMIM:600775	ERF	2077	HP:0005469	Flat occiput
OMIM:600775	ERF	2077	HP:0008572	External ear malformation
OMIM:600775	ERF	2077	HP:0000238	Hydrocephalus
OMIM:600775	ERF	2077	HP:0001252	Muscular hypotonia
OMIM:600775	ERF	2077	HP:0001363	Craniosynostosis
OMIM:600775	ERF	2077	HP:0000006	Autosomal dominant inheritance
OMIM:600775	ERF	2077	HP:0002714	Downturned corners of mouth
OMIM:607801	CAV3	859	HP:0003326	Myalgia
OMIM:607801	CAV3	859	HP:0003560	Muscular dystrophy
OMIM:607801	CAV3	859	HP:0003391	Gowers sign
OMIM:607801	CAV3	859	HP:0000007	Autosomal recessive inheritance
OMIM:607801	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:607801	CAV3	859	HP:0003394	Muscle cramps
OMIM:607801	CAV3	859	HP:0008981	Calf muscle hypertrophy
OMIM:607801	CAV3	859	HP:0011463	Childhood onset
OMIM:607801	CAV3	859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300476	AIPL1	23746	HP:0000603	Central scotoma
OMIM:300476	AIPL1	23746	HP:0000545	Myopia
OMIM:300476	AIPL1	23746	HP:0000551	Abnormality of color vision
OMIM:300476	AIPL1	23746	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	AIPL1	23746	HP:0000505	Visual impairment
OMIM:300476	AIPL1	23746	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	AIPL1	23746	HP:0001419	X-linked recessive inheritance
OMIM:300476	PITPNM3	83394	HP:0000603	Central scotoma
OMIM:300476	PITPNM3	83394	HP:0000545	Myopia
OMIM:300476	PITPNM3	83394	HP:0000551	Abnormality of color vision
OMIM:300476	PITPNM3	83394	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	PITPNM3	83394	HP:0000505	Visual impairment
OMIM:300476	PITPNM3	83394	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	PITPNM3	83394	HP:0001419	X-linked recessive inheritance
OMIM:300476	OPN1LW	5956	HP:0000603	Central scotoma
OMIM:300476	OPN1LW	5956	HP:0000545	Myopia
OMIM:300476	OPN1LW	5956	HP:0000551	Abnormality of color vision
OMIM:300476	OPN1LW	5956	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	OPN1LW	5956	HP:0000505	Visual impairment
OMIM:300476	OPN1LW	5956	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	OPN1LW	5956	HP:0001419	X-linked recessive inheritance
OMIM:300476	UNC119	9094	HP:0000603	Central scotoma
OMIM:300476	UNC119	9094	HP:0000545	Myopia
OMIM:300476	UNC119	9094	HP:0000551	Abnormality of color vision
OMIM:300476	UNC119	9094	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	UNC119	9094	HP:0000505	Visual impairment
OMIM:300476	UNC119	9094	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	UNC119	9094	HP:0001419	X-linked recessive inheritance
OMIM:300476	RPGRIP1	57096	HP:0000603	Central scotoma
OMIM:300476	RPGRIP1	57096	HP:0000545	Myopia
OMIM:300476	RPGRIP1	57096	HP:0000551	Abnormality of color vision
OMIM:300476	RPGRIP1	57096	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:300476	RPGRIP1	57096	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	RPGRIP1	57096	HP:0001419	X-linked recessive inheritance
OMIM:300476	PRPH2	5961	HP:0000603	Central scotoma
OMIM:300476	PRPH2	5961	HP:0000545	Myopia
OMIM:300476	PRPH2	5961	HP:0000551	Abnormality of color vision
OMIM:300476	PRPH2	5961	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	PRPH2	5961	HP:0000505	Visual impairment
OMIM:300476	PRPH2	5961	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	PRPH2	5961	HP:0001419	X-linked recessive inheritance
OMIM:300476	CACNA1F	778	HP:0000603	Central scotoma
OMIM:300476	CACNA1F	778	HP:0000545	Myopia
OMIM:300476	CACNA1F	778	HP:0000551	Abnormality of color vision
OMIM:300476	CACNA1F	778	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	CACNA1F	778	HP:0000505	Visual impairment
OMIM:300476	CACNA1F	778	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	CACNA1F	778	HP:0001419	X-linked recessive inheritance
OMIM:300476	PROM1	8842	HP:0000603	Central scotoma
OMIM:300476	PROM1	8842	HP:0000545	Myopia
OMIM:300476	PROM1	8842	HP:0000551	Abnormality of color vision
OMIM:300476	PROM1	8842	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	PROM1	8842	HP:0000505	Visual impairment
OMIM:300476	PROM1	8842	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	PROM1	8842	HP:0001419	X-linked recessive inheritance
OMIM:300476	DRAM2	128338	HP:0000603	Central scotoma
OMIM:300476	DRAM2	128338	HP:0000545	Myopia
OMIM:300476	DRAM2	128338	HP:0000551	Abnormality of color vision
OMIM:300476	DRAM2	128338	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	DRAM2	128338	HP:0000505	Visual impairment
OMIM:300476	DRAM2	128338	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	DRAM2	128338	HP:0001419	X-linked recessive inheritance
OMIM:300476	CACNA2D4	93589	HP:0000603	Central scotoma
OMIM:300476	CACNA2D4	93589	HP:0000545	Myopia
OMIM:300476	CACNA2D4	93589	HP:0000551	Abnormality of color vision
OMIM:300476	CACNA2D4	93589	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	CACNA2D4	93589	HP:0000505	Visual impairment
OMIM:300476	CACNA2D4	93589	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	CACNA2D4	93589	HP:0001419	X-linked recessive inheritance
OMIM:300476	RAB28	9364	HP:0000603	Central scotoma
OMIM:300476	RAB28	9364	HP:0000545	Myopia
OMIM:300476	RAB28	9364	HP:0000551	Abnormality of color vision
OMIM:300476	RAB28	9364	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	RAB28	9364	HP:0000505	Visual impairment
OMIM:300476	RAB28	9364	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	RAB28	9364	HP:0001419	X-linked recessive inheritance
OMIM:300476	RIMS1	22999	HP:0000603	Central scotoma
OMIM:300476	RIMS1	22999	HP:0000545	Myopia
OMIM:300476	RIMS1	22999	HP:0000551	Abnormality of color vision
OMIM:300476	RIMS1	22999	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	RIMS1	22999	HP:0000505	Visual impairment
OMIM:300476	RIMS1	22999	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	RIMS1	22999	HP:0001419	X-linked recessive inheritance
OMIM:300476	RPGR	6103	HP:0000603	Central scotoma
OMIM:300476	RPGR	6103	HP:0000545	Myopia
OMIM:300476	RPGR	6103	HP:0000551	Abnormality of color vision
OMIM:300476	RPGR	6103	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	RPGR	6103	HP:0000505	Visual impairment
OMIM:300476	RPGR	6103	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	RPGR	6103	HP:0001419	X-linked recessive inheritance
OMIM:300476	ABCA4	24	HP:0000603	Central scotoma
OMIM:300476	ABCA4	24	HP:0000545	Myopia
OMIM:300476	ABCA4	24	HP:0000551	Abnormality of color vision
OMIM:300476	ABCA4	24	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	ABCA4	24	HP:0000505	Visual impairment
OMIM:300476	ABCA4	24	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	ABCA4	24	HP:0001419	X-linked recessive inheritance
OMIM:300476	SEMA4A	64218	HP:0000603	Central scotoma
OMIM:300476	SEMA4A	64218	HP:0000545	Myopia
OMIM:300476	SEMA4A	64218	HP:0000551	Abnormality of color vision
OMIM:300476	SEMA4A	64218	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:300476	SEMA4A	64218	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	SEMA4A	64218	HP:0001419	X-linked recessive inheritance
OMIM:300476	C8ORF37	157657	HP:0000603	Central scotoma
OMIM:300476	C8ORF37	157657	HP:0000545	Myopia
OMIM:300476	C8ORF37	157657	HP:0000551	Abnormality of color vision
OMIM:300476	C8ORF37	157657	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:300476	C8ORF37	157657	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	C8ORF37	157657	HP:0001419	X-linked recessive inheritance
OMIM:300476	OPN1MW	2652	HP:0000603	Central scotoma
OMIM:300476	OPN1MW	2652	HP:0000545	Myopia
OMIM:300476	OPN1MW	2652	HP:0000551	Abnormality of color vision
OMIM:300476	OPN1MW	2652	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	OPN1MW	2652	HP:0000505	Visual impairment
OMIM:300476	OPN1MW	2652	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	OPN1MW	2652	HP:0001419	X-linked recessive inheritance
OMIM:300476	GUCA1A	2978	HP:0000603	Central scotoma
OMIM:300476	GUCA1A	2978	HP:0000545	Myopia
OMIM:300476	GUCA1A	2978	HP:0000551	Abnormality of color vision
OMIM:300476	GUCA1A	2978	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	GUCA1A	2978	HP:0000505	Visual impairment
OMIM:300476	GUCA1A	2978	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	GUCA1A	2978	HP:0001419	X-linked recessive inheritance
OMIM:300476	RAX2	84839	HP:0000603	Central scotoma
OMIM:300476	RAX2	84839	HP:0000545	Myopia
OMIM:300476	RAX2	84839	HP:0000551	Abnormality of color vision
OMIM:300476	RAX2	84839	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	RAX2	84839	HP:0000505	Visual impairment
OMIM:300476	RAX2	84839	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	RAX2	84839	HP:0001419	X-linked recessive inheritance
OMIM:300476	CNGA3	1261	HP:0000603	Central scotoma
OMIM:300476	CNGA3	1261	HP:0000545	Myopia
OMIM:300476	CNGA3	1261	HP:0000551	Abnormality of color vision
OMIM:300476	CNGA3	1261	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	CNGA3	1261	HP:0000505	Visual impairment
OMIM:300476	CNGA3	1261	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	CNGA3	1261	HP:0001419	X-linked recessive inheritance
OMIM:300476	ADAM9	8754	HP:0000603	Central scotoma
OMIM:300476	ADAM9	8754	HP:0000545	Myopia
OMIM:300476	ADAM9	8754	HP:0000551	Abnormality of color vision
OMIM:300476	ADAM9	8754	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	ADAM9	8754	HP:0000505	Visual impairment
OMIM:300476	ADAM9	8754	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	ADAM9	8754	HP:0001419	X-linked recessive inheritance
OMIM:300476	CDHR1	92211	HP:0000603	Central scotoma
OMIM:300476	CDHR1	92211	HP:0000545	Myopia
OMIM:300476	CDHR1	92211	HP:0000551	Abnormality of color vision
OMIM:300476	CDHR1	92211	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	CDHR1	92211	HP:0000505	Visual impairment
OMIM:300476	CDHR1	92211	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	CDHR1	92211	HP:0001419	X-linked recessive inheritance
OMIM:300476	TTLL5	23093	HP:0000603	Central scotoma
OMIM:300476	TTLL5	23093	HP:0000545	Myopia
OMIM:300476	TTLL5	23093	HP:0000551	Abnormality of color vision
OMIM:300476	TTLL5	23093	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	TTLL5	23093	HP:0000505	Visual impairment
OMIM:300476	TTLL5	23093	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	TTLL5	23093	HP:0001419	X-linked recessive inheritance
OMIM:300476	GUCY2D	3000	HP:0000603	Central scotoma
OMIM:300476	GUCY2D	3000	HP:0000545	Myopia
OMIM:300476	GUCY2D	3000	HP:0000551	Abnormality of color vision
OMIM:300476	GUCY2D	3000	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:300476	GUCY2D	3000	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	GUCY2D	3000	HP:0001419	X-linked recessive inheritance
OMIM:300476	POC1B	282809	HP:0000603	Central scotoma
OMIM:300476	POC1B	282809	HP:0000545	Myopia
OMIM:300476	POC1B	282809	HP:0000551	Abnormality of color vision
OMIM:300476	POC1B	282809	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	POC1B	282809	HP:0000505	Visual impairment
OMIM:300476	POC1B	282809	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	POC1B	282809	HP:0001419	X-linked recessive inheritance
OMIM:300476	CRX	1406	HP:0000603	Central scotoma
OMIM:300476	CRX	1406	HP:0000545	Myopia
OMIM:300476	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:300476	CRX	1406	HP:0008002	Abnormality of macular pigmentation
OMIM:300476	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:300476	CRX	1406	HP:0000505	Visual impairment
OMIM:300476	CRX	1406	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:300476	CRX	1406	HP:0001419	X-linked recessive inheritance
OMIM:260130	KRT17	3872	HP:0000007	Autosomal recessive inheritance
OMIM:260130	KRT16	3868	HP:0000007	Autosomal recessive inheritance
OMIM:260130	KRT6A	3853	HP:0000007	Autosomal recessive inheritance
OMIM:260130	KRT6B	3854	HP:0000007	Autosomal recessive inheritance
OMIM:134600	SLC34A1	6569	HP:0000083	Renal insufficiency
OMIM:134600	SLC34A1	6569	HP:0001324	Muscle weakness
OMIM:134600	SLC34A1	6569	HP:0000093	Proteinuria
OMIM:134600	SLC34A1	6569	HP:0002148	Hypophosphatemia
OMIM:134600	SLC34A1	6569	HP:0004322	Short stature
OMIM:134600	SLC34A1	6569	HP:0000006	Autosomal dominant inheritance
OMIM:134600	EHHADH	1962	HP:0000083	Renal insufficiency
OMIM:134600	EHHADH	1962	HP:0001324	Muscle weakness
OMIM:134600	EHHADH	1962	HP:0000093	Proteinuria
OMIM:134600	EHHADH	1962	HP:0002148	Hypophosphatemia
OMIM:134600	EHHADH	1962	HP:0004322	Short stature
OMIM:134600	EHHADH	1962	HP:0000006	Autosomal dominant inheritance
OMIM:611880	TPM1	7168	HP:0003621	Juvenile onset
OMIM:611880	TPM1	7168	HP:0011462	Young adult onset
OMIM:611880	TPM1	7168	HP:0000007	Autosomal recessive inheritance
OMIM:611880	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:611880	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:611880	CRYAB	1410	HP:0003621	Juvenile onset
OMIM:611880	CRYAB	1410	HP:0011462	Young adult onset
OMIM:611880	CRYAB	1410	HP:0000007	Autosomal recessive inheritance
OMIM:611880	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:611880	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:611880	ACTC1	70	HP:0003621	Juvenile onset
OMIM:611880	ACTC1	70	HP:0011462	Young adult onset
OMIM:611880	ACTC1	70	HP:0000007	Autosomal recessive inheritance
OMIM:611880	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:611880	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:611880	RAF1	5894	HP:0003621	Juvenile onset
OMIM:611880	RAF1	5894	HP:0011462	Young adult onset
OMIM:611880	RAF1	5894	HP:0000007	Autosomal recessive inheritance
OMIM:611880	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:611880	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:611880	GATAD1	57798	HP:0003621	Juvenile onset
OMIM:611880	GATAD1	57798	HP:0011462	Young adult onset
OMIM:611880	GATAD1	57798	HP:0000007	Autosomal recessive inheritance
OMIM:611880	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:611880	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:611880	LAMA4	3910	HP:0003621	Juvenile onset
OMIM:611880	LAMA4	3910	HP:0011462	Young adult onset
OMIM:611880	LAMA4	3910	HP:0000007	Autosomal recessive inheritance
OMIM:611880	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:611880	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:611880	TMPO	7112	HP:0003621	Juvenile onset
OMIM:611880	TMPO	7112	HP:0011462	Young adult onset
OMIM:611880	TMPO	7112	HP:0000007	Autosomal recessive inheritance
OMIM:611880	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:611880	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:611880	DES	1674	HP:0003621	Juvenile onset
OMIM:611880	DES	1674	HP:0011462	Young adult onset
OMIM:611880	DES	1674	HP:0000007	Autosomal recessive inheritance
OMIM:611880	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:611880	DES	1674	HP:0001635	Congestive heart failure
OMIM:611880	ABCC9	10060	HP:0003621	Juvenile onset
OMIM:611880	ABCC9	10060	HP:0011462	Young adult onset
OMIM:611880	ABCC9	10060	HP:0000007	Autosomal recessive inheritance
OMIM:611880	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:611880	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:611880	MYH6	4624	HP:0003621	Juvenile onset
OMIM:611880	MYH6	4624	HP:0011462	Young adult onset
OMIM:611880	MYH6	4624	HP:0000007	Autosomal recessive inheritance
OMIM:611880	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:611880	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:611880	MYH7	4625	HP:0003621	Juvenile onset
OMIM:611880	MYH7	4625	HP:0011462	Young adult onset
OMIM:611880	MYH7	4625	HP:0000007	Autosomal recessive inheritance
OMIM:611880	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:611880	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:611880	LDB3	11155	HP:0003621	Juvenile onset
OMIM:611880	LDB3	11155	HP:0011462	Young adult onset
OMIM:611880	LDB3	11155	HP:0000007	Autosomal recessive inheritance
OMIM:611880	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:611880	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:611880	ACTN2	88	HP:0003621	Juvenile onset
OMIM:611880	ACTN2	88	HP:0011462	Young adult onset
OMIM:611880	ACTN2	88	HP:0000007	Autosomal recessive inheritance
OMIM:611880	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:611880	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:611880	TXNRD2	10587	HP:0003621	Juvenile onset
OMIM:611880	TXNRD2	10587	HP:0011462	Young adult onset
OMIM:611880	TXNRD2	10587	HP:0000007	Autosomal recessive inheritance
OMIM:611880	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:611880	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:611880	DMD	1756	HP:0003621	Juvenile onset
OMIM:611880	DMD	1756	HP:0011462	Young adult onset
OMIM:611880	DMD	1756	HP:0000007	Autosomal recessive inheritance
OMIM:611880	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:611880	DMD	1756	HP:0001635	Congestive heart failure
OMIM:611880	TNNC1	7134	HP:0003621	Juvenile onset
OMIM:611880	TNNC1	7134	HP:0011462	Young adult onset
OMIM:611880	TNNC1	7134	HP:0000007	Autosomal recessive inheritance
OMIM:611880	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:611880	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:611880	PSEN1	5663	HP:0003621	Juvenile onset
OMIM:611880	PSEN1	5663	HP:0011462	Young adult onset
OMIM:611880	PSEN1	5663	HP:0000007	Autosomal recessive inheritance
OMIM:611880	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:611880	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:611880	PSEN2	5664	HP:0003621	Juvenile onset
OMIM:611880	PSEN2	5664	HP:0011462	Young adult onset
OMIM:611880	PSEN2	5664	HP:0000007	Autosomal recessive inheritance
OMIM:611880	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:611880	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:611880	TNNI3	7137	HP:0003621	Juvenile onset
OMIM:611880	TNNI3	7137	HP:0011462	Young adult onset
OMIM:611880	TNNI3	7137	HP:0000007	Autosomal recessive inheritance
OMIM:611880	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:611880	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:611880	FHL2	2274	HP:0003621	Juvenile onset
OMIM:611880	FHL2	2274	HP:0011462	Young adult onset
OMIM:611880	FHL2	2274	HP:0000007	Autosomal recessive inheritance
OMIM:611880	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:611880	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:611880	TNNT2	7139	HP:0003621	Juvenile onset
OMIM:611880	TNNT2	7139	HP:0011462	Young adult onset
OMIM:611880	TNNT2	7139	HP:0000007	Autosomal recessive inheritance
OMIM:611880	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:611880	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:611880	DSG2	1829	HP:0003621	Juvenile onset
OMIM:611880	DSG2	1829	HP:0011462	Young adult onset
OMIM:611880	DSG2	1829	HP:0000007	Autosomal recessive inheritance
OMIM:611880	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:611880	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:611880	PLN	5350	HP:0003621	Juvenile onset
OMIM:611880	PLN	5350	HP:0011462	Young adult onset
OMIM:611880	PLN	5350	HP:0000007	Autosomal recessive inheritance
OMIM:611880	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:611880	PLN	5350	HP:0001635	Congestive heart failure
OMIM:611880	PRDM16	63976	HP:0003621	Juvenile onset
OMIM:611880	PRDM16	63976	HP:0011462	Young adult onset
OMIM:611880	PRDM16	63976	HP:0000007	Autosomal recessive inheritance
OMIM:611880	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:611880	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:611880	TTN	7273	HP:0003621	Juvenile onset
OMIM:611880	TTN	7273	HP:0011462	Young adult onset
OMIM:611880	TTN	7273	HP:0000007	Autosomal recessive inheritance
OMIM:611880	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:611880	TTN	7273	HP:0001635	Congestive heart failure
OMIM:611880	NEXN	91624	HP:0003621	Juvenile onset
OMIM:611880	NEXN	91624	HP:0011462	Young adult onset
OMIM:611880	NEXN	91624	HP:0000007	Autosomal recessive inheritance
OMIM:611880	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:611880	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:611880	FKTN	2218	HP:0003621	Juvenile onset
OMIM:611880	FKTN	2218	HP:0011462	Young adult onset
OMIM:611880	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:611880	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:611880	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:611880	SGCD	6444	HP:0003621	Juvenile onset
OMIM:611880	SGCD	6444	HP:0011462	Young adult onset
OMIM:611880	SGCD	6444	HP:0000007	Autosomal recessive inheritance
OMIM:611880	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:611880	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:611880	TCAP	8557	HP:0003621	Juvenile onset
OMIM:611880	TCAP	8557	HP:0011462	Young adult onset
OMIM:611880	TCAP	8557	HP:0000007	Autosomal recessive inheritance
OMIM:611880	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:611880	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:611880	CSRP3	8048	HP:0003621	Juvenile onset
OMIM:611880	CSRP3	8048	HP:0011462	Young adult onset
OMIM:611880	CSRP3	8048	HP:0000007	Autosomal recessive inheritance
OMIM:611880	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:611880	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:611880	RBM20	282996	HP:0003621	Juvenile onset
OMIM:611880	RBM20	282996	HP:0011462	Young adult onset
OMIM:611880	RBM20	282996	HP:0000007	Autosomal recessive inheritance
OMIM:611880	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:611880	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:611880	SDHA	6389	HP:0003621	Juvenile onset
OMIM:611880	SDHA	6389	HP:0011462	Young adult onset
OMIM:611880	SDHA	6389	HP:0000007	Autosomal recessive inheritance
OMIM:611880	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:611880	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:611880	TAZ	6901	HP:0003621	Juvenile onset
OMIM:611880	TAZ	6901	HP:0011462	Young adult onset
OMIM:611880	TAZ	6901	HP:0000007	Autosomal recessive inheritance
OMIM:611880	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:611880	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:611880	VCL	7414	HP:0003621	Juvenile onset
OMIM:611880	VCL	7414	HP:0011462	Young adult onset
OMIM:611880	VCL	7414	HP:0000007	Autosomal recessive inheritance
OMIM:611880	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:611880	VCL	7414	HP:0001635	Congestive heart failure
OMIM:611880	MYPN	84665	HP:0003621	Juvenile onset
OMIM:611880	MYPN	84665	HP:0011462	Young adult onset
OMIM:611880	MYPN	84665	HP:0000007	Autosomal recessive inheritance
OMIM:611880	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:611880	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:611880	SCN5A	6331	HP:0003621	Juvenile onset
OMIM:611880	SCN5A	6331	HP:0011462	Young adult onset
OMIM:611880	SCN5A	6331	HP:0000007	Autosomal recessive inheritance
OMIM:611880	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:611880	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:611880	BAG3	9531	HP:0003621	Juvenile onset
OMIM:611880	BAG3	9531	HP:0011462	Young adult onset
OMIM:611880	BAG3	9531	HP:0000007	Autosomal recessive inheritance
OMIM:611880	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:611880	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:611880	DOLK	22845	HP:0003621	Juvenile onset
OMIM:611880	DOLK	22845	HP:0011462	Young adult onset
OMIM:611880	DOLK	22845	HP:0000007	Autosomal recessive inheritance
OMIM:611880	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:611880	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:611880	MYBPC3	4607	HP:0003621	Juvenile onset
OMIM:611880	MYBPC3	4607	HP:0011462	Young adult onset
OMIM:611880	MYBPC3	4607	HP:0000007	Autosomal recessive inheritance
OMIM:611880	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:611880	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:615075	CTNNB1	1499	HP:0000252	Microcephaly
OMIM:615075	CTNNB1	1499	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615075	CTNNB1	1499	HP:0001263	Global developmental delay
OMIM:615075	CTNNB1	1499	HP:0001249	Intellectual disability
OMIM:615075	CTNNB1	1499	HP:0001252	Muscular hypotonia
OMIM:615075	CTNNB1	1499	HP:0000219	Thin upper lip vermilion
OMIM:260000	GRHPR	9380	HP:0000007	Autosomal recessive inheritance
OMIM:260000	GRHPR	9380	HP:0000121	Nephrocalcinosis
OMIM:260000	GRHPR	9380	HP:0003355	Aminoaciduria
OMIM:260000	GRHPR	9380	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:260000	GRHPR	9380	HP:0000790	Hematuria
OMIM:260000	GRHPR	9380	HP:0000083	Renal insufficiency
ORPHANET:2805	PDX1	3651	HP:0009800	Maternal diabetes
ORPHANET:2805	PDX1	3651	HP:0001511	Intrauterine growth retardation
ORPHANET:2805	PDX1	3651	HP:0001732	Abnormality of the pancreas
ORPHANET:2805	PTF1A	256297	HP:0009800	Maternal diabetes
ORPHANET:2805	PTF1A	256297	HP:0001511	Intrauterine growth retardation
ORPHANET:2805	PTF1A	256297	HP:0001732	Abnormality of the pancreas
OMIM:300896	SLC35A2	7355	HP:0001442	Somatic mosaicism
OMIM:300896	SLC35A2	7355	HP:0012471	Thick vermilion border
OMIM:300896	SLC35A2	7355	HP:0200134	Epileptic encephalopathy
OMIM:300896	SLC35A2	7355	HP:0000280	Coarse facial features
OMIM:300896	SLC35A2	7355	HP:0000574	Thick eyebrow
OMIM:300896	SLC35A2	7355	HP:0002719	Recurrent infections
OMIM:300896	SLC35A2	7355	HP:0012448	Delayed myelination
OMIM:300896	SLC35A2	7355	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300896	SLC35A2	7355	HP:0001250	Seizures
OMIM:300896	SLC35A2	7355	HP:0000639	Nystagmus
OMIM:300896	SLC35A2	7355	HP:0001252	Muscular hypotonia
OMIM:300896	SLC35A2	7355	HP:0000252	Microcephaly
OMIM:300896	SLC35A2	7355	HP:0000431	Wide nasal bridge
OMIM:300896	SLC35A2	7355	HP:0001263	Global developmental delay
OMIM:300896	SLC35A2	7355	HP:0002059	Cerebral atrophy
OMIM:300896	SLC35A2	7355	HP:0001423	X-linked dominant inheritance
OMIM:300896	SLC35A2	7355	HP:0000194	Open mouth
OMIM:300896	SLC35A2	7355	HP:0002020	Gastroesophageal reflux
OMIM:300896	SLC35A2	7355	HP:0000510	Rod-cone dystrophy
OMIM:300896	SLC35A2	7355	HP:0002521	Hypsarrhythmia
OMIM:616260	RNF125	54941	HP:0000463	Anteverted nares
OMIM:616260	RNF125	54941	HP:0001252	Muscular hypotonia
OMIM:616260	RNF125	54941	HP:0000506	Telecanthus
OMIM:616260	RNF125	54941	HP:0000938	Osteopenia
OMIM:616260	RNF125	54941	HP:0000750	Delayed speech and language development
OMIM:616260	RNF125	54941	HP:0001943	Hypoglycemia
OMIM:616260	RNF125	54941	HP:0000256	Macrocephaly
OMIM:616260	RNF125	54941	HP:0000303	Mandibular prognathia
OMIM:616260	RNF125	54941	HP:0001249	Intellectual disability
OMIM:616260	RNF125	54941	HP:0000739	Anxiety
OMIM:616260	RNF125	54941	HP:0001097	Keratoconjunctivitis sicca
OMIM:616260	RNF125	54941	HP:0002120	Cerebral cortical atrophy
OMIM:616260	RNF125	54941	HP:0002119	Ventriculomegaly
OMIM:616260	RNF125	54941	HP:0002650	Scoliosis
OMIM:616260	RNF125	54941	HP:0000445	Wide nose
OMIM:616260	RNF125	54941	HP:0001279	Syncope
OMIM:616260	RNF125	54941	HP:0002104	Apnea
OMIM:616260	RNF125	54941	HP:0000158	Macroglossia
OMIM:616260	RNF125	54941	HP:0001288	Gait disturbance
OMIM:616260	RNF125	54941	HP:0002090	Pneumonia
OMIM:616260	RNF125	54941	HP:0000270	Delayed cranial suture closure
OMIM:616260	RNF125	54941	HP:0000574	Thick eyebrow
OMIM:616260	RNF125	54941	HP:0001250	Seizures
OMIM:616260	RNF125	54941	HP:0000238	Hydrocephalus
OMIM:616260	RNF125	54941	HP:0000998	Hypertrichosis
OMIM:616260	RNF125	54941	HP:0002020	Gastroesophageal reflux
OMIM:614435	GJA1	2697	HP:0004383	Hypoplastic left heart
OMIM:614435	GJA1	2697	HP:0001629	Ventricular septal defect
OMIM:614435	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:614435	NKX2-5	1482	HP:0004383	Hypoplastic left heart
OMIM:614435	NKX2-5	1482	HP:0001629	Ventricular septal defect
OMIM:614435	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:616000	ALB	213	HP:0003073	Hypoalbuminemia
OMIM:616000	ALB	213	HP:0000939	Osteoporosis
OMIM:616000	ALB	213	HP:0003077	Hyperlipidemia
OMIM:616000	ALB	213	HP:0000007	Autosomal recessive inheritance
OMIM:616000	ALB	213	HP:0009125	Lipodystrophy
ORPHANET:261250	ANKRD11	29123	HP:0002553	Highly arched eyebrow
ORPHANET:261250	ANKRD11	29123	HP:0000325	Triangular face
ORPHANET:261250	ANKRD11	29123	HP:0001972	Macrocytic anemia
ORPHANET:261250	ANKRD11	29123	HP:0000154	Wide mouth
ORPHANET:261250	ANKRD11	29123	HP:0100543	Cognitive impairment
ORPHANET:261250	ANKRD11	29123	HP:0003272	Abnormality of the hip bone
ORPHANET:261250	ANKRD11	29123	HP:0009623	Proximal placement of thumb
ORPHANET:261250	ANKRD11	29123	HP:0000483	Astigmatism
ORPHANET:261250	ANKRD11	29123	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:261250	ANKRD11	29123	HP:0001873	Thrombocytopenia
ORPHANET:261250	ANKRD11	29123	HP:0006315	Single median maxillary incisor
ORPHANET:261250	ANKRD11	29123	HP:0000505	Visual impairment
ORPHANET:261250	ANKRD11	29123	HP:0000174	Abnormality of the palate
ORPHANET:261250	ANKRD11	29123	HP:0000717	Autism
ORPHANET:261250	ANKRD11	29123	HP:0008872	Feeding difficulties in infancy
ORPHANET:261250	ANKRD11	29123	HP:0000648	Optic atrophy
ORPHANET:261250	ANKRD11	29123	HP:0000388	Otitis media
ORPHANET:261250	ANKRD11	29123	HP:0001633	Abnormality of the mitral valve
ORPHANET:261250	ANKRD11	29123	HP:0002007	Frontal bossing
ORPHANET:261250	ANKRD11	29123	HP:0000582	Upslanted palpebral fissure
ORPHANET:261250	ANKRD11	29123	HP:0002167	Neurological speech impairment
ORPHANET:261250	ANKRD11	29123	HP:0001629	Ventricular septal defect
ORPHANET:261250	ANKRD11	29123	HP:0002119	Ventriculomegaly
ORPHANET:261250	ANKRD11	29123	HP:0000365	Hearing impairment
ORPHANET:261250	ANKRD11	29123	HP:0000276	Long face
ORPHANET:261250	ANKRD11	29123	HP:0001250	Seizures
ORPHANET:261250	ANKRD11	29123	HP:0000377	Abnormality of the pinna
ORPHANET:261250	ANKRD11	29123	HP:0002650	Scoliosis
ORPHANET:261250	ANKRD11	29123	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:261250	ANKRD11	29123	HP:0000343	Long philtrum
ORPHANET:261250	ANKRD11	29123	HP:0000307	Pointed chin
ORPHANET:261250	ANKRD11	29123	HP:0000463	Anteverted nares
ORPHANET:261250	ANKRD11	29123	HP:0002269	Abnormality of neuronal migration
ORPHANET:261250	ANKRD11	29123	HP:0000545	Myopia
ORPHANET:261250	ANKRD11	29123	HP:0000347	Micrognathia
ORPHANET:261250	ANKRD11	29123	HP:0000639	Nystagmus
ORPHANET:261250	ANKRD11	29123	HP:0000028	Cryptorchidism
ORPHANET:261250	ANKRD11	29123	HP:0000341	Narrow forehead
ORPHANET:261250	ANKRD11	29123	HP:0000486	Strabismus
ORPHANET:261250	ANKRD11	29123	HP:0000384	Preauricular skin tag
ORPHANET:261250	ANKRD11	29123	HP:0000179	Thick lower lip vermilion
ORPHANET:261250	ANKRD11	29123	HP:0002808	Kyphosis
ORPHANET:261250	ANKRD11	29123	HP:0000348	High forehead
OMIM:218600	RECQL4	9401	HP:0100589	Urogenital fistula
OMIM:218600	RECQL4	9401	HP:0000545	Myopia
OMIM:218600	RECQL4	9401	HP:0000337	Broad forehead
OMIM:218600	RECQL4	9401	HP:0000076	Vesicoureteral reflux
OMIM:218600	RECQL4	9401	HP:0000601	Hypotelorism
OMIM:218600	RECQL4	9401	HP:0000286	Epicanthus
OMIM:218600	RECQL4	9401	HP:0001250	Seizures
OMIM:218600	RECQL4	9401	HP:0002007	Frontal bossing
OMIM:218600	RECQL4	9401	HP:0003468	Abnormality of the vertebrae
OMIM:218600	RECQL4	9401	HP:0005792	Short humerus
OMIM:218600	RECQL4	9401	HP:0000316	Hypertelorism
OMIM:218600	RECQL4	9401	HP:0001249	Intellectual disability
OMIM:218600	RECQL4	9401	HP:0000430	Underdeveloped nasal alae
OMIM:218600	RECQL4	9401	HP:0000143	Rectovaginal fistula
OMIM:218600	RECQL4	9401	HP:0000486	Strabismus
OMIM:218600	RECQL4	9401	HP:0004322	Short stature
OMIM:218600	RECQL4	9401	HP:0000077	Abnormality of the kidney
OMIM:218600	RECQL4	9401	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:218600	RECQL4	9401	HP:0000405	Conductive hearing impairment
OMIM:218600	RECQL4	9401	HP:0000160	Narrow mouth
OMIM:218600	RECQL4	9401	HP:0009924	Aplasia/Hypoplasia involving the nose
OMIM:218600	RECQL4	9401	HP:0000175	Cleft palate
OMIM:218600	RECQL4	9401	HP:0000275	Narrow face
OMIM:218600	RECQL4	9401	HP:0001511	Intrauterine growth retardation
OMIM:218600	RECQL4	9401	HP:0004442	Sagittal craniosynostosis
OMIM:218600	RECQL4	9401	HP:0010622	Neoplasm of the skeletal system
OMIM:218600	RECQL4	9401	HP:0002665	Lymphoma
OMIM:218600	RECQL4	9401	HP:0000446	Narrow nasal bridge
OMIM:218600	RECQL4	9401	HP:0004443	Lambdoidal craniosynostosis
OMIM:218600	RECQL4	9401	HP:0006443	Patellar aplasia
OMIM:218600	RECQL4	9401	HP:0000639	Nystagmus
OMIM:218600	RECQL4	9401	HP:0000218	High palate
OMIM:218600	RECQL4	9401	HP:0000426	Prominent nasal bridge
OMIM:218600	RECQL4	9401	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:218600	RECQL4	9401	HP:0000648	Optic atrophy
OMIM:218600	RECQL4	9401	HP:0002984	Hypoplasia of the radius
OMIM:218600	RECQL4	9401	HP:0000347	Micrognathia
OMIM:218600	RECQL4	9401	HP:0003022	Hypoplasia of the ulna
OMIM:218600	RECQL4	9401	HP:0002996	Limited elbow movement
OMIM:218600	RECQL4	9401	HP:0009702	Carpal synostosis
OMIM:218600	RECQL4	9401	HP:0002650	Scoliosis
OMIM:218600	RECQL4	9401	HP:0002126	Polymicrogyria
OMIM:218600	RECQL4	9401	HP:0001671	Abnormality of the cardiac septa
OMIM:218600	RECQL4	9401	HP:0000452	Choanal stenosis
OMIM:218600	RECQL4	9401	HP:0001171	Split hand
OMIM:218600	RECQL4	9401	HP:0000238	Hydrocephalus
OMIM:218600	RECQL4	9401	HP:0002024	Malabsorption
OMIM:218600	RECQL4	9401	HP:0000368	Low-set, posteriorly rotated ears
OMIM:218600	RECQL4	9401	HP:0001274	Agenesis of corpus callosum
OMIM:218600	RECQL4	9401	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:218600	RECQL4	9401	HP:0004440	Coronal craniosynostosis
OMIM:218600	RECQL4	9401	HP:0000193	Bifid uvula
OMIM:218600	RECQL4	9401	HP:0010048	Aplasia of metacarpal bones
OMIM:218600	RECQL4	9401	HP:0100542	Abnormal localization of kidney
OMIM:218600	RECQL4	9401	HP:0000520	Proptosis
OMIM:218600	RECQL4	9401	HP:0003974	Absent radius
OMIM:218600	RECQL4	9401	HP:0002023	Anal atresia
OMIM:218600	RECQL4	9401	HP:0000494	Downslanted palpebral fissures
OMIM:218600	RECQL4	9401	HP:0006487	Bowing of the long bones
OMIM:218600	RECQL4	9401	HP:0000007	Autosomal recessive inheritance
OMIM:218600	RECQL4	9401	HP:0003298	Spina bifida occulta
OMIM:616413	PDGFB	5155	HP:0001260	Dysarthria
OMIM:616413	PDGFB	5155	HP:0001250	Seizures
OMIM:616413	PDGFB	5155	HP:0000726	Dementia
OMIM:616413	PDGFB	5155	HP:0001300	Parkinsonism
OMIM:616413	PDGFB	5155	HP:0002354	Memory impairment
OMIM:616413	PDGFB	5155	HP:0001266	Choreoathetosis
OMIM:616413	PDGFRB	5159	HP:0001260	Dysarthria
OMIM:616413	PDGFRB	5159	HP:0001250	Seizures
OMIM:616413	PDGFRB	5159	HP:0000726	Dementia
OMIM:616413	PDGFRB	5159	HP:0001300	Parkinsonism
OMIM:616413	PDGFRB	5159	HP:0002354	Memory impairment
OMIM:616413	PDGFRB	5159	HP:0001266	Choreoathetosis
OMIM:616413	XPR1	9213	HP:0001260	Dysarthria
OMIM:616413	XPR1	9213	HP:0001250	Seizures
OMIM:616413	XPR1	9213	HP:0000726	Dementia
OMIM:616413	XPR1	9213	HP:0001300	Parkinsonism
OMIM:616413	XPR1	9213	HP:0002354	Memory impairment
OMIM:616413	XPR1	9213	HP:0001266	Choreoathetosis
OMIM:616413	SLC20A2	6575	HP:0001260	Dysarthria
OMIM:616413	SLC20A2	6575	HP:0001250	Seizures
OMIM:616413	SLC20A2	6575	HP:0000726	Dementia
OMIM:616413	SLC20A2	6575	HP:0001300	Parkinsonism
OMIM:616413	SLC20A2	6575	HP:0002354	Memory impairment
OMIM:616413	SLC20A2	6575	HP:0001266	Choreoathetosis
OMIM:612260	MYD88	4615	HP:0200042	Skin ulcer
OMIM:612260	MYD88	4615	HP:0000246	Sinusitis
OMIM:612260	MYD88	4615	HP:0004370	Abnormality of temperature regulation
OMIM:248360	MLYCD	23417	HP:0001250	Seizures
OMIM:248360	MLYCD	23417	HP:0001252	Muscular hypotonia
OMIM:248360	MLYCD	23417	HP:0001263	Global developmental delay
OMIM:248360	MLYCD	23417	HP:0001946	Ketosis
OMIM:248360	MLYCD	23417	HP:0000007	Autosomal recessive inheritance
OMIM:248360	MLYCD	23417	HP:0012450	Chronic constipation
OMIM:248360	MLYCD	23417	HP:0100543	Cognitive impairment
OMIM:248360	MLYCD	23417	HP:0001942	Metabolic acidosis
OMIM:248360	MLYCD	23417	HP:0002019	Constipation
OMIM:248360	MLYCD	23417	HP:0001943	Hypoglycemia
OMIM:248360	MLYCD	23417	HP:0003128	Lactic acidosis
OMIM:248360	MLYCD	23417	HP:0002013	Vomiting
OMIM:248360	MLYCD	23417	HP:0004322	Short stature
OMIM:248360	MLYCD	23417	HP:0001626	Abnormality of the cardiovascular system
OMIM:248360	MLYCD	23417	HP:0002027	Abdominal pain
OMIM:248360	MLYCD	23417	HP:0001302	Pachygyria
OMIM:248360	MLYCD	23417	HP:0001639	Hypertrophic cardiomyopathy
OMIM:248360	MLYCD	23417	HP:0002014	Diarrhea
OMIM:614602	SKIV2L	6499	HP:0001518	Small for gestational age
OMIM:614602	SKIV2L	6499	HP:0002014	Diarrhea
OMIM:614602	SKIV2L	6499	HP:0000316	Hypertelorism
OMIM:614602	SKIV2L	6499	HP:0008070	Sparse hair
OMIM:614602	SKIV2L	6499	HP:0002235	Pili canaliculi
OMIM:614602	SKIV2L	6499	HP:0009886	Trichorrhexis nodosa
OMIM:614602	SKIV2L	6499	HP:0002240	Hepatomegaly
OMIM:614602	SKIV2L	6499	HP:0002583	Colitis
OMIM:614602	SKIV2L	6499	HP:0012115	Hepatitis
OMIM:614602	SKIV2L	6499	HP:0002721	Immunodeficiency
OMIM:614602	SKIV2L	6499	HP:0000445	Wide nose
OMIM:614602	SKIV2L	6499	HP:0000007	Autosomal recessive inheritance
OMIM:614602	SKIV2L	6499	HP:0001394	Cirrhosis
OMIM:614602	SKIV2L	6499	HP:0011473	Villous atrophy
OMIM:614602	SKIV2L	6499	HP:0001508	Failure to thrive
OMIM:614602	SKIV2L	6499	HP:0002299	Brittle hair
OMIM:614602	SKIV2L	6499	HP:0001511	Intrauterine growth retardation
OMIM:614602	SKIV2L	6499	HP:0002224	Woolly hair
OMIM:614602	SKIV2L	6499	HP:0011220	Prominent forehead
OMIM:614602	SKIV2L	6499	HP:0030056	Uncombable hair
OMIM:614602	TTC37	9652	HP:0001518	Small for gestational age
OMIM:614602	TTC37	9652	HP:0002014	Diarrhea
OMIM:614602	TTC37	9652	HP:0000316	Hypertelorism
OMIM:614602	TTC37	9652	HP:0008070	Sparse hair
OMIM:614602	TTC37	9652	HP:0002235	Pili canaliculi
OMIM:614602	TTC37	9652	HP:0009886	Trichorrhexis nodosa
OMIM:614602	TTC37	9652	HP:0002240	Hepatomegaly
OMIM:614602	TTC37	9652	HP:0002583	Colitis
OMIM:614602	TTC37	9652	HP:0012115	Hepatitis
OMIM:614602	TTC37	9652	HP:0002721	Immunodeficiency
OMIM:614602	TTC37	9652	HP:0000445	Wide nose
OMIM:614602	TTC37	9652	HP:0000007	Autosomal recessive inheritance
OMIM:614602	TTC37	9652	HP:0001394	Cirrhosis
OMIM:614602	TTC37	9652	HP:0011473	Villous atrophy
OMIM:614602	TTC37	9652	HP:0001508	Failure to thrive
OMIM:614602	TTC37	9652	HP:0002299	Brittle hair
OMIM:614602	TTC37	9652	HP:0001511	Intrauterine growth retardation
OMIM:614602	TTC37	9652	HP:0002224	Woolly hair
OMIM:614602	TTC37	9652	HP:0011220	Prominent forehead
OMIM:614602	TTC37	9652	HP:0030056	Uncombable hair
ORPHANET:2556	COX7B	1349	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2556	COX7B	1349	HP:0010458	Female pseudohermaphroditism
ORPHANET:2556	COX7B	1349	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2556	COX7B	1349	HP:0001999	Abnormal facial shape
ORPHANET:2556	COX7B	1349	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:2556	COX7B	1349	HP:0000062	Ambiguous genitalia
ORPHANET:2556	COX7B	1349	HP:0002093	Respiratory insufficiency
ORPHANET:2556	COX7B	1349	HP:0000682	Abnormality of dental enamel
ORPHANET:2556	COX7B	1349	HP:0100543	Cognitive impairment
ORPHANET:2556	COX7B	1349	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:2556	COX7B	1349	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:2556	COX7B	1349	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:2556	COX7B	1349	HP:0000647	Sclerocornea
ORPHANET:2556	COX7B	1349	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2556	COX7B	1349	HP:0001597	Abnormality of the nail
ORPHANET:2556	COX7B	1349	HP:0000037	Male pseudohermaphroditism
ORPHANET:2556	COX7B	1349	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2556	COX7B	1349	HP:0000366	Abnormality of the nose
ORPHANET:2556	COX7B	1349	HP:0004322	Short stature
ORPHANET:2556	COX7B	1349	HP:0001053	Hypopigmented skin patches
ORPHANET:2556	COX7B	1349	HP:0001250	Seizures
ORPHANET:2556	COX7B	1349	HP:0001633	Abnormality of the mitral valve
ORPHANET:2556	COX7B	1349	HP:0000505	Visual impairment
ORPHANET:2556	COX7B	1349	HP:0004327	Abnormality of the vitreous humor
ORPHANET:2556	COX7B	1349	HP:0011675	Arrhythmia
ORPHANET:2556	COX7B	1349	HP:0000532	Chorioretinal abnormality
ORPHANET:2556	COX7B	1349	HP:0001671	Abnormality of the cardiac septa
ORPHANET:2556	COX7B	1349	HP:0000501	Glaucoma
ORPHANET:2556	COX7B	1349	HP:0000035	Abnormality of the testis
ORPHANET:2556	COX7B	1349	HP:0000272	Malar flattening
ORPHANET:2556	COX7B	1349	HP:0000238	Hydrocephalus
ORPHANET:2556	COX7B	1349	HP:0000960	Sacral dimple
ORPHANET:2556	COX7B	1349	HP:0009908	Anterior creases of earlobe
ORPHANET:2556	COX7B	1349	HP:0011024	Abnormality of the gastrointestinal tract
ORPHANET:2556	COX7B	1349	HP:0002167	Neurological speech impairment
ORPHANET:2556	COX7B	1349	HP:0000347	Micrognathia
ORPHANET:2556	COX7B	1349	HP:0007400	Irregular hyperpigmentation
ORPHANET:2556	COX7B	1349	HP:0007759	Opacification of the corneal stroma
ORPHANET:2556	COX7B	1349	HP:0000365	Hearing impairment
ORPHANET:2556	COX7B	1349	HP:0000252	Microcephaly
ORPHANET:2556	COX7B	1349	HP:0000627	Posterior embryotoxon
ORPHANET:2556	COX7B	1349	HP:0000008	Abnormality of female internal genitalia
ORPHANET:2556	NDUFB11	54539	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2556	NDUFB11	54539	HP:0010458	Female pseudohermaphroditism
ORPHANET:2556	NDUFB11	54539	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2556	NDUFB11	54539	HP:0001999	Abnormal facial shape
ORPHANET:2556	NDUFB11	54539	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:2556	NDUFB11	54539	HP:0000062	Ambiguous genitalia
ORPHANET:2556	NDUFB11	54539	HP:0002093	Respiratory insufficiency
ORPHANET:2556	NDUFB11	54539	HP:0000682	Abnormality of dental enamel
ORPHANET:2556	NDUFB11	54539	HP:0100543	Cognitive impairment
ORPHANET:2556	NDUFB11	54539	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:2556	NDUFB11	54539	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:2556	NDUFB11	54539	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:2556	NDUFB11	54539	HP:0000647	Sclerocornea
ORPHANET:2556	NDUFB11	54539	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2556	NDUFB11	54539	HP:0001597	Abnormality of the nail
ORPHANET:2556	NDUFB11	54539	HP:0000037	Male pseudohermaphroditism
ORPHANET:2556	NDUFB11	54539	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2556	NDUFB11	54539	HP:0000366	Abnormality of the nose
ORPHANET:2556	NDUFB11	54539	HP:0004322	Short stature
ORPHANET:2556	NDUFB11	54539	HP:0001053	Hypopigmented skin patches
ORPHANET:2556	NDUFB11	54539	HP:0001250	Seizures
ORPHANET:2556	NDUFB11	54539	HP:0001633	Abnormality of the mitral valve
ORPHANET:2556	NDUFB11	54539	HP:0000505	Visual impairment
ORPHANET:2556	NDUFB11	54539	HP:0004327	Abnormality of the vitreous humor
ORPHANET:2556	NDUFB11	54539	HP:0011675	Arrhythmia
ORPHANET:2556	NDUFB11	54539	HP:0000532	Chorioretinal abnormality
ORPHANET:2556	NDUFB11	54539	HP:0001671	Abnormality of the cardiac septa
ORPHANET:2556	NDUFB11	54539	HP:0000501	Glaucoma
ORPHANET:2556	NDUFB11	54539	HP:0000035	Abnormality of the testis
ORPHANET:2556	NDUFB11	54539	HP:0000272	Malar flattening
ORPHANET:2556	NDUFB11	54539	HP:0000238	Hydrocephalus
ORPHANET:2556	NDUFB11	54539	HP:0000960	Sacral dimple
ORPHANET:2556	NDUFB11	54539	HP:0009908	Anterior creases of earlobe
ORPHANET:2556	NDUFB11	54539	HP:0011024	Abnormality of the gastrointestinal tract
ORPHANET:2556	NDUFB11	54539	HP:0002167	Neurological speech impairment
ORPHANET:2556	NDUFB11	54539	HP:0000347	Micrognathia
ORPHANET:2556	NDUFB11	54539	HP:0007400	Irregular hyperpigmentation
ORPHANET:2556	NDUFB11	54539	HP:0007759	Opacification of the corneal stroma
ORPHANET:2556	NDUFB11	54539	HP:0000365	Hearing impairment
ORPHANET:2556	NDUFB11	54539	HP:0000252	Microcephaly
ORPHANET:2556	NDUFB11	54539	HP:0000627	Posterior embryotoxon
ORPHANET:2556	NDUFB11	54539	HP:0000008	Abnormality of female internal genitalia
ORPHANET:2556	HCCS	3052	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2556	HCCS	3052	HP:0010458	Female pseudohermaphroditism
ORPHANET:2556	HCCS	3052	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2556	HCCS	3052	HP:0001999	Abnormal facial shape
ORPHANET:2556	HCCS	3052	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:2556	HCCS	3052	HP:0000062	Ambiguous genitalia
ORPHANET:2556	HCCS	3052	HP:0002093	Respiratory insufficiency
ORPHANET:2556	HCCS	3052	HP:0000682	Abnormality of dental enamel
ORPHANET:2556	HCCS	3052	HP:0100543	Cognitive impairment
ORPHANET:2556	HCCS	3052	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:2556	HCCS	3052	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:2556	HCCS	3052	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:2556	HCCS	3052	HP:0000647	Sclerocornea
ORPHANET:2556	HCCS	3052	HP:0100627	Displacement of the external urethral meatus
ORPHANET:2556	HCCS	3052	HP:0001597	Abnormality of the nail
ORPHANET:2556	HCCS	3052	HP:0000037	Male pseudohermaphroditism
ORPHANET:2556	HCCS	3052	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2556	HCCS	3052	HP:0000366	Abnormality of the nose
ORPHANET:2556	HCCS	3052	HP:0004322	Short stature
ORPHANET:2556	HCCS	3052	HP:0001053	Hypopigmented skin patches
ORPHANET:2556	HCCS	3052	HP:0001250	Seizures
ORPHANET:2556	HCCS	3052	HP:0001633	Abnormality of the mitral valve
ORPHANET:2556	HCCS	3052	HP:0000505	Visual impairment
ORPHANET:2556	HCCS	3052	HP:0004327	Abnormality of the vitreous humor
ORPHANET:2556	HCCS	3052	HP:0011675	Arrhythmia
ORPHANET:2556	HCCS	3052	HP:0000532	Chorioretinal abnormality
ORPHANET:2556	HCCS	3052	HP:0001671	Abnormality of the cardiac septa
ORPHANET:2556	HCCS	3052	HP:0000501	Glaucoma
ORPHANET:2556	HCCS	3052	HP:0000035	Abnormality of the testis
ORPHANET:2556	HCCS	3052	HP:0000272	Malar flattening
ORPHANET:2556	HCCS	3052	HP:0000238	Hydrocephalus
ORPHANET:2556	HCCS	3052	HP:0000960	Sacral dimple
ORPHANET:2556	HCCS	3052	HP:0009908	Anterior creases of earlobe
ORPHANET:2556	HCCS	3052	HP:0011024	Abnormality of the gastrointestinal tract
ORPHANET:2556	HCCS	3052	HP:0002167	Neurological speech impairment
ORPHANET:2556	HCCS	3052	HP:0000347	Micrognathia
ORPHANET:2556	HCCS	3052	HP:0007400	Irregular hyperpigmentation
ORPHANET:2556	HCCS	3052	HP:0007759	Opacification of the corneal stroma
ORPHANET:2556	HCCS	3052	HP:0000365	Hearing impairment
ORPHANET:2556	HCCS	3052	HP:0000252	Microcephaly
ORPHANET:2556	HCCS	3052	HP:0000627	Posterior embryotoxon
ORPHANET:2556	HCCS	3052	HP:0000008	Abnormality of female internal genitalia
OMIM:614296	WFS1	7466	HP:0000833	Glucose intolerance
OMIM:614296	WFS1	7466	HP:0000365	Hearing impairment
OMIM:614296	WFS1	7466	HP:0000501	Glaucoma
OMIM:614296	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:614296	WFS1	7466	HP:0000739	Anxiety
OMIM:614296	WFS1	7466	HP:0000738	Hallucinations
OMIM:614296	WFS1	7466	HP:0000709	Psychosis
OMIM:614296	WFS1	7466	HP:0100753	Schizophrenia
OMIM:614296	WFS1	7466	HP:0000717	Autism
OMIM:614296	WFS1	7466	HP:0000819	Diabetes mellitus
OMIM:614296	WFS1	7466	HP:0000648	Optic atrophy
OMIM:254500	CCND1	595	HP:0000007	Autosomal recessive inheritance
OMIM:254500	CCND1	595	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:254500	CCND1	595	HP:0001428	Somatic mutation
OMIM:608710	CTLA4	1493	HP:0001824	Weight loss
OMIM:608710	CTLA4	1493	HP:0000083	Renal insufficiency
OMIM:608710	CTLA4	1493	HP:0000093	Proteinuria
OMIM:608710	CTLA4	1493	HP:0002960	Autoimmunity
OMIM:608710	CTLA4	1493	HP:0100539	Periorbital edema
OMIM:608710	CTLA4	1493	HP:0001287	Meningitis
OMIM:608710	CTLA4	1493	HP:0000163	Abnormality of the oral cavity
OMIM:608710	CTLA4	1493	HP:0000407	Sensorineural hearing impairment
OMIM:608710	CTLA4	1493	HP:0002633	Vasculitis
OMIM:608710	CTLA4	1493	HP:0004418	Thrombophlebitis
OMIM:608710	CTLA4	1493	HP:0006824	Cranial nerve paralysis
OMIM:608710	CTLA4	1493	HP:0002206	Pulmonary fibrosis
OMIM:608710	CTLA4	1493	HP:0005214	Intestinal obstruction
OMIM:608710	CTLA4	1493	HP:0100749	Chest pain
OMIM:608710	CTLA4	1493	HP:0000488	Retinopathy
OMIM:608710	CTLA4	1493	HP:0000790	Hematuria
OMIM:608710	CTLA4	1493	HP:0011675	Arrhythmia
OMIM:608710	CTLA4	1493	HP:0001271	Polyneuropathy
OMIM:608710	CTLA4	1493	HP:0000388	Otitis media
OMIM:608710	CTLA4	1493	HP:0100533	Inflammatory abnormality of the eye
OMIM:608710	CTLA4	1493	HP:0000988	Skin rash
OMIM:608710	CTLA4	1493	HP:0000520	Proptosis
OMIM:608710	CTLA4	1493	HP:0002093	Respiratory insufficiency
OMIM:608710	CTLA4	1493	HP:0000246	Sinusitis
OMIM:608710	CTLA4	1493	HP:0004370	Abnormality of temperature regulation
OMIM:608710	CTLA4	1493	HP:0000421	Epistaxis
OMIM:608710	CTLA4	1493	HP:0000873	Diabetes insipidus
OMIM:608710	CTLA4	1493	HP:0001250	Seizures
OMIM:608710	CTLA4	1493	HP:0002113	Pulmonary infiltrates
OMIM:608710	CTLA4	1493	HP:0006510	Chronic obstructive pulmonary disease
OMIM:608710	CTLA4	1493	HP:0000505	Visual impairment
OMIM:608710	CTLA4	1493	HP:0002829	Arthralgia
OMIM:608710	CTLA4	1493	HP:0001933	Subcutaneous hemorrhage
OMIM:608710	CTLA4	1493	HP:0002955	Granulomatosis
OMIM:608710	CTLA4	1493	HP:0000822	Hypertension
OMIM:608710	CTLA4	1493	HP:0002017	Nausea and vomiting
OMIM:608710	CTLA4	1493	HP:0002076	Migraine
OMIM:608710	CTLA4	1493	HP:0002637	Cerebral ischemia
OMIM:608710	CTLA4	1493	HP:0002239	Gastrointestinal hemorrhage
OMIM:608710	CTLA4	1493	HP:0001733	Pancreatitis
OMIM:608710	CTLA4	1493	HP:0002091	Restrictive lung disease
OMIM:608710	CTLA4	1493	HP:0002205	Recurrent respiratory infections
OMIM:608710	CTLA4	1493	HP:0003401	Paresthesia
OMIM:608710	CTLA4	1493	HP:0003326	Myalgia
OMIM:608710	CTLA4	1493	HP:0200042	Skin ulcer
OMIM:608710	CTLA4	1493	HP:0002204	Pulmonary embolism
OMIM:608710	CTLA4	1493	HP:0002027	Abdominal pain
OMIM:608710	CTLA4	1493	HP:0004374	Hemiplegia/hemiparesis
OMIM:608710	CTLA4	1493	HP:0001677	Coronary artery disease
OMIM:608710	CTLA4	1493	HP:0000864	Abnormality of the hypothalamus-pituitary axis
OMIM:608710	PRTN3	5657	HP:0001824	Weight loss
OMIM:608710	PRTN3	5657	HP:0000083	Renal insufficiency
OMIM:608710	PRTN3	5657	HP:0000093	Proteinuria
OMIM:608710	PRTN3	5657	HP:0002960	Autoimmunity
OMIM:608710	PRTN3	5657	HP:0100539	Periorbital edema
OMIM:608710	PRTN3	5657	HP:0001287	Meningitis
OMIM:608710	PRTN3	5657	HP:0000163	Abnormality of the oral cavity
OMIM:608710	PRTN3	5657	HP:0000407	Sensorineural hearing impairment
OMIM:608710	PRTN3	5657	HP:0002633	Vasculitis
OMIM:608710	PRTN3	5657	HP:0004418	Thrombophlebitis
OMIM:608710	PRTN3	5657	HP:0006824	Cranial nerve paralysis
OMIM:608710	PRTN3	5657	HP:0002206	Pulmonary fibrosis
OMIM:608710	PRTN3	5657	HP:0005214	Intestinal obstruction
OMIM:608710	PRTN3	5657	HP:0100749	Chest pain
OMIM:608710	PRTN3	5657	HP:0000488	Retinopathy
OMIM:608710	PRTN3	5657	HP:0000790	Hematuria
OMIM:608710	PRTN3	5657	HP:0011675	Arrhythmia
OMIM:608710	PRTN3	5657	HP:0001271	Polyneuropathy
OMIM:608710	PRTN3	5657	HP:0000388	Otitis media
OMIM:608710	PRTN3	5657	HP:0100533	Inflammatory abnormality of the eye
OMIM:608710	PRTN3	5657	HP:0000988	Skin rash
OMIM:608710	PRTN3	5657	HP:0000520	Proptosis
OMIM:608710	PRTN3	5657	HP:0002093	Respiratory insufficiency
OMIM:608710	PRTN3	5657	HP:0000246	Sinusitis
OMIM:608710	PRTN3	5657	HP:0004370	Abnormality of temperature regulation
OMIM:608710	PRTN3	5657	HP:0000421	Epistaxis
OMIM:608710	PRTN3	5657	HP:0000873	Diabetes insipidus
OMIM:608710	PRTN3	5657	HP:0001250	Seizures
OMIM:608710	PRTN3	5657	HP:0002113	Pulmonary infiltrates
OMIM:608710	PRTN3	5657	HP:0006510	Chronic obstructive pulmonary disease
OMIM:608710	PRTN3	5657	HP:0000505	Visual impairment
OMIM:608710	PRTN3	5657	HP:0002829	Arthralgia
OMIM:608710	PRTN3	5657	HP:0001933	Subcutaneous hemorrhage
OMIM:608710	PRTN3	5657	HP:0002955	Granulomatosis
OMIM:608710	PRTN3	5657	HP:0000822	Hypertension
OMIM:608710	PRTN3	5657	HP:0002017	Nausea and vomiting
OMIM:608710	PRTN3	5657	HP:0002076	Migraine
OMIM:608710	PRTN3	5657	HP:0002637	Cerebral ischemia
OMIM:608710	PRTN3	5657	HP:0002239	Gastrointestinal hemorrhage
OMIM:608710	PRTN3	5657	HP:0001733	Pancreatitis
OMIM:608710	PRTN3	5657	HP:0002091	Restrictive lung disease
OMIM:608710	PRTN3	5657	HP:0002205	Recurrent respiratory infections
OMIM:608710	PRTN3	5657	HP:0003401	Paresthesia
OMIM:608710	PRTN3	5657	HP:0003326	Myalgia
OMIM:608710	PRTN3	5657	HP:0200042	Skin ulcer
OMIM:608710	PRTN3	5657	HP:0002204	Pulmonary embolism
OMIM:608710	PRTN3	5657	HP:0002027	Abdominal pain
OMIM:608710	PRTN3	5657	HP:0004374	Hemiplegia/hemiparesis
OMIM:608710	PRTN3	5657	HP:0001677	Coronary artery disease
OMIM:608710	PRTN3	5657	HP:0000864	Abnormality of the hypothalamus-pituitary axis
OMIM:608710	HLA-DPB1	3115	HP:0001824	Weight loss
OMIM:608710	HLA-DPB1	3115	HP:0000083	Renal insufficiency
OMIM:608710	HLA-DPB1	3115	HP:0000093	Proteinuria
OMIM:608710	HLA-DPB1	3115	HP:0002960	Autoimmunity
OMIM:608710	HLA-DPB1	3115	HP:0100539	Periorbital edema
OMIM:608710	HLA-DPB1	3115	HP:0001287	Meningitis
OMIM:608710	HLA-DPB1	3115	HP:0000163	Abnormality of the oral cavity
OMIM:608710	HLA-DPB1	3115	HP:0000407	Sensorineural hearing impairment
OMIM:608710	HLA-DPB1	3115	HP:0002633	Vasculitis
OMIM:608710	HLA-DPB1	3115	HP:0004418	Thrombophlebitis
OMIM:608710	HLA-DPB1	3115	HP:0006824	Cranial nerve paralysis
OMIM:608710	HLA-DPB1	3115	HP:0002206	Pulmonary fibrosis
OMIM:608710	HLA-DPB1	3115	HP:0005214	Intestinal obstruction
OMIM:608710	HLA-DPB1	3115	HP:0100749	Chest pain
OMIM:608710	HLA-DPB1	3115	HP:0000488	Retinopathy
OMIM:608710	HLA-DPB1	3115	HP:0000790	Hematuria
OMIM:608710	HLA-DPB1	3115	HP:0011675	Arrhythmia
OMIM:608710	HLA-DPB1	3115	HP:0001271	Polyneuropathy
OMIM:608710	HLA-DPB1	3115	HP:0000388	Otitis media
OMIM:608710	HLA-DPB1	3115	HP:0100533	Inflammatory abnormality of the eye
OMIM:608710	HLA-DPB1	3115	HP:0000988	Skin rash
OMIM:608710	HLA-DPB1	3115	HP:0000520	Proptosis
OMIM:608710	HLA-DPB1	3115	HP:0002093	Respiratory insufficiency
OMIM:608710	HLA-DPB1	3115	HP:0000246	Sinusitis
OMIM:608710	HLA-DPB1	3115	HP:0004370	Abnormality of temperature regulation
OMIM:608710	HLA-DPB1	3115	HP:0000421	Epistaxis
OMIM:608710	HLA-DPB1	3115	HP:0000873	Diabetes insipidus
OMIM:608710	HLA-DPB1	3115	HP:0001250	Seizures
OMIM:608710	HLA-DPB1	3115	HP:0002113	Pulmonary infiltrates
OMIM:608710	HLA-DPB1	3115	HP:0006510	Chronic obstructive pulmonary disease
OMIM:608710	HLA-DPB1	3115	HP:0000505	Visual impairment
OMIM:608710	HLA-DPB1	3115	HP:0002829	Arthralgia
OMIM:608710	HLA-DPB1	3115	HP:0001933	Subcutaneous hemorrhage
OMIM:608710	HLA-DPB1	3115	HP:0002955	Granulomatosis
OMIM:608710	HLA-DPB1	3115	HP:0000822	Hypertension
OMIM:608710	HLA-DPB1	3115	HP:0002017	Nausea and vomiting
OMIM:608710	HLA-DPB1	3115	HP:0002076	Migraine
OMIM:608710	HLA-DPB1	3115	HP:0002637	Cerebral ischemia
OMIM:608710	HLA-DPB1	3115	HP:0002239	Gastrointestinal hemorrhage
OMIM:608710	HLA-DPB1	3115	HP:0001733	Pancreatitis
OMIM:608710	HLA-DPB1	3115	HP:0002091	Restrictive lung disease
OMIM:608710	HLA-DPB1	3115	HP:0002205	Recurrent respiratory infections
OMIM:608710	HLA-DPB1	3115	HP:0003401	Paresthesia
OMIM:608710	HLA-DPB1	3115	HP:0003326	Myalgia
OMIM:608710	HLA-DPB1	3115	HP:0200042	Skin ulcer
OMIM:608710	HLA-DPB1	3115	HP:0002204	Pulmonary embolism
OMIM:608710	HLA-DPB1	3115	HP:0002027	Abdominal pain
OMIM:608710	HLA-DPB1	3115	HP:0004374	Hemiplegia/hemiparesis
OMIM:608710	HLA-DPB1	3115	HP:0001677	Coronary artery disease
OMIM:608710	HLA-DPB1	3115	HP:0000864	Abnormality of the hypothalamus-pituitary axis
OMIM:608710	PTPN22	26191	HP:0001824	Weight loss
OMIM:608710	PTPN22	26191	HP:0000083	Renal insufficiency
OMIM:608710	PTPN22	26191	HP:0000093	Proteinuria
OMIM:608710	PTPN22	26191	HP:0002960	Autoimmunity
OMIM:608710	PTPN22	26191	HP:0100539	Periorbital edema
OMIM:608710	PTPN22	26191	HP:0001287	Meningitis
OMIM:608710	PTPN22	26191	HP:0000163	Abnormality of the oral cavity
OMIM:608710	PTPN22	26191	HP:0000407	Sensorineural hearing impairment
OMIM:608710	PTPN22	26191	HP:0002633	Vasculitis
OMIM:608710	PTPN22	26191	HP:0004418	Thrombophlebitis
OMIM:608710	PTPN22	26191	HP:0006824	Cranial nerve paralysis
OMIM:608710	PTPN22	26191	HP:0002206	Pulmonary fibrosis
OMIM:608710	PTPN22	26191	HP:0005214	Intestinal obstruction
OMIM:608710	PTPN22	26191	HP:0100749	Chest pain
OMIM:608710	PTPN22	26191	HP:0000488	Retinopathy
OMIM:608710	PTPN22	26191	HP:0000790	Hematuria
OMIM:608710	PTPN22	26191	HP:0011675	Arrhythmia
OMIM:608710	PTPN22	26191	HP:0001271	Polyneuropathy
OMIM:608710	PTPN22	26191	HP:0000388	Otitis media
OMIM:608710	PTPN22	26191	HP:0100533	Inflammatory abnormality of the eye
OMIM:608710	PTPN22	26191	HP:0000988	Skin rash
OMIM:608710	PTPN22	26191	HP:0000520	Proptosis
OMIM:608710	PTPN22	26191	HP:0002093	Respiratory insufficiency
OMIM:608710	PTPN22	26191	HP:0000246	Sinusitis
OMIM:608710	PTPN22	26191	HP:0004370	Abnormality of temperature regulation
OMIM:608710	PTPN22	26191	HP:0000421	Epistaxis
OMIM:608710	PTPN22	26191	HP:0000873	Diabetes insipidus
OMIM:608710	PTPN22	26191	HP:0001250	Seizures
OMIM:608710	PTPN22	26191	HP:0002113	Pulmonary infiltrates
OMIM:608710	PTPN22	26191	HP:0006510	Chronic obstructive pulmonary disease
OMIM:608710	PTPN22	26191	HP:0000505	Visual impairment
OMIM:608710	PTPN22	26191	HP:0002829	Arthralgia
OMIM:608710	PTPN22	26191	HP:0001933	Subcutaneous hemorrhage
OMIM:608710	PTPN22	26191	HP:0002955	Granulomatosis
OMIM:608710	PTPN22	26191	HP:0000822	Hypertension
OMIM:608710	PTPN22	26191	HP:0002017	Nausea and vomiting
OMIM:608710	PTPN22	26191	HP:0002076	Migraine
OMIM:608710	PTPN22	26191	HP:0002637	Cerebral ischemia
OMIM:608710	PTPN22	26191	HP:0002239	Gastrointestinal hemorrhage
OMIM:608710	PTPN22	26191	HP:0001733	Pancreatitis
OMIM:608710	PTPN22	26191	HP:0002091	Restrictive lung disease
OMIM:608710	PTPN22	26191	HP:0002205	Recurrent respiratory infections
OMIM:608710	PTPN22	26191	HP:0003401	Paresthesia
OMIM:608710	PTPN22	26191	HP:0003326	Myalgia
OMIM:608710	PTPN22	26191	HP:0200042	Skin ulcer
OMIM:608710	PTPN22	26191	HP:0002204	Pulmonary embolism
OMIM:608710	PTPN22	26191	HP:0002027	Abdominal pain
OMIM:608710	PTPN22	26191	HP:0004374	Hemiplegia/hemiparesis
OMIM:608710	PTPN22	26191	HP:0001677	Coronary artery disease
OMIM:608710	PTPN22	26191	HP:0000864	Abnormality of the hypothalamus-pituitary axis
OMIM:613925	MLC1	23209	HP:0003677	Slow progression
OMIM:613925	MLC1	23209	HP:0000256	Macrocephaly
OMIM:613925	MLC1	23209	HP:0001257	Spasticity
OMIM:613925	MLC1	23209	HP:0001260	Dysarthria
OMIM:613925	MLC1	23209	HP:0001250	Seizures
OMIM:613925	MLC1	23209	HP:0002059	Cerebral atrophy
OMIM:613925	MLC1	23209	HP:0001249	Intellectual disability
OMIM:613925	MLC1	23209	HP:0001272	Cerebellar atrophy
OMIM:613925	MLC1	23209	HP:0002119	Ventriculomegaly
OMIM:613925	MLC1	23209	HP:0001270	Motor delay
OMIM:613925	MLC1	23209	HP:0000007	Autosomal recessive inheritance
OMIM:613925	MLC1	23209	HP:0001251	Ataxia
OMIM:613925	MLC1	23209	HP:0002344	Progressive neurologic deterioration
OMIM:613925	HEPACAM	220296	HP:0003677	Slow progression
OMIM:613925	HEPACAM	220296	HP:0000256	Macrocephaly
OMIM:613925	HEPACAM	220296	HP:0001257	Spasticity
OMIM:613925	HEPACAM	220296	HP:0001260	Dysarthria
OMIM:613925	HEPACAM	220296	HP:0001250	Seizures
OMIM:613925	HEPACAM	220296	HP:0002059	Cerebral atrophy
OMIM:613925	HEPACAM	220296	HP:0001249	Intellectual disability
OMIM:613925	HEPACAM	220296	HP:0001272	Cerebellar atrophy
OMIM:613925	HEPACAM	220296	HP:0002119	Ventriculomegaly
OMIM:613925	HEPACAM	220296	HP:0001270	Motor delay
OMIM:613925	HEPACAM	220296	HP:0000007	Autosomal recessive inheritance
OMIM:613925	HEPACAM	220296	HP:0001251	Ataxia
OMIM:613925	HEPACAM	220296	HP:0002344	Progressive neurologic deterioration
OMIM:128200	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:128200	PRRT2	112476	HP:0001250	Seizures
OMIM:128200	PRRT2	112476	HP:0000271	Abnormality of the face
OMIM:128200	PRRT2	112476	HP:0003829	Incomplete penetrance
OMIM:159001	LMNA	4000	HP:0003236	Elevated serum creatine phosphokinase
OMIM:159001	LMNA	4000	HP:0001662	Bradycardia
OMIM:159001	LMNA	4000	HP:0002355	Difficulty walking
OMIM:159001	LMNA	4000	HP:0003458	EMG: myopathic abnormalities
OMIM:159001	LMNA	4000	HP:0003560	Muscular dystrophy
OMIM:159001	LMNA	4000	HP:0005150	Abnormal atrioventricular conduction
OMIM:159001	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:159001	LMNA	4000	HP:0001692	Primary atrial arrhythmia
OMIM:159001	LMNA	4000	HP:0003749	Pelvic girdle muscle weakness
OMIM:159001	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:159001	LMNA	4000	HP:0003547	Shoulder girdle muscle weakness
OMIM:159001	LMNA	4000	HP:0003677	Slow progression
OMIM:159001	LMNA	4000	HP:0001645	Sudden cardiac death
OMIM:159001	LMNA	4000	HP:0001371	Flexion contracture
ORPHANET:99429	AR	367	HP:0000144	Decreased fertility
ORPHANET:99429	AR	367	HP:0000786	Primary amenorrhea
ORPHANET:99429	AR	367	HP:0010788	Testicular neoplasm
ORPHANET:99429	AR	367	HP:0000098	Tall stature
ORPHANET:99429	AR	367	HP:0001337	Tremor
ORPHANET:99429	AR	367	HP:0004299	Hernia of the abdominal wall
ORPHANET:99429	AR	367	HP:0004349	Reduced bone mineral density
ORPHANET:99429	AR	367	HP:0011362	Abnormal hair quantity
ORPHANET:99429	AR	367	HP:0000028	Cryptorchidism
ORPHANET:99429	AR	367	HP:0000037	Male pseudohermaphroditism
ORPHANET:99429	AR	367	HP:0001371	Flexion contracture
OMIM:123400	PRNP	5621	HP:0000739	Anxiety
OMIM:123400	PRNP	5621	HP:0002381	Aphasia
OMIM:123400	PRNP	5621	HP:0001336	Myoclonus
OMIM:123400	PRNP	5621	HP:0000505	Visual impairment
OMIM:123400	PRNP	5621	HP:0000726	Dementia
OMIM:123400	PRNP	5621	HP:0002066	Gait ataxia
OMIM:123400	PRNP	5621	HP:0000746	Delusions
OMIM:123400	PRNP	5621	HP:0002354	Memory impairment
OMIM:123400	PRNP	5621	HP:0000738	Hallucinations
OMIM:123400	PRNP	5621	HP:0000006	Autosomal dominant inheritance
OMIM:123400	PRNP	5621	HP:0003678	Rapidly progressive
OMIM:123400	PRNP	5621	HP:0002922	Increased CSF protein
OMIM:123400	PRNP	5621	HP:0000737	Irritability
OMIM:123400	PRNP	5621	HP:0000716	Depression
OMIM:123400	PRNP	5621	HP:0000741	Apathy
OMIM:609612	TUBB2B	347733	HP:0000006	Autosomal dominant inheritance
OMIM:609612	TUBB2B	347733	HP:0000577	Exotropia
OMIM:609612	TUBB2B	347733	HP:0000508	Ptosis
OMIM:609612	PHOX2A	401	HP:0000006	Autosomal dominant inheritance
OMIM:609612	PHOX2A	401	HP:0000577	Exotropia
OMIM:609612	PHOX2A	401	HP:0000508	Ptosis
OMIM:609612	KIF21A	55605	HP:0000006	Autosomal dominant inheritance
OMIM:609612	KIF21A	55605	HP:0000577	Exotropia
OMIM:609612	KIF21A	55605	HP:0000508	Ptosis
OMIM:609612	COL25A1	84570	HP:0000006	Autosomal dominant inheritance
OMIM:609612	COL25A1	84570	HP:0000577	Exotropia
OMIM:609612	COL25A1	84570	HP:0000508	Ptosis
OMIM:609612	TUBB3	10381	HP:0000006	Autosomal dominant inheritance
OMIM:609612	TUBB3	10381	HP:0000577	Exotropia
OMIM:609612	TUBB3	10381	HP:0000508	Ptosis
OMIM:615597	STT3B	201595	HP:0000028	Cryptorchidism
OMIM:615597	STT3B	201595	HP:0011968	Feeding difficulties
OMIM:615597	STT3B	201595	HP:0001250	Seizures
OMIM:615597	STT3B	201595	HP:0002880	Respiratory difficulties
OMIM:615597	STT3B	201595	HP:0000252	Microcephaly
OMIM:615597	STT3B	201595	HP:0000648	Optic atrophy
OMIM:615597	STT3B	201595	HP:0001410	Decreased liver function
OMIM:615597	STT3B	201595	HP:0001508	Failure to thrive
OMIM:615597	STT3B	201595	HP:0003577	Congenital onset
OMIM:615597	STT3B	201595	HP:0000046	Scrotal hypoplasia
OMIM:615597	STT3B	201595	HP:0001272	Cerebellar atrophy
OMIM:615597	STT3B	201595	HP:0001873	Thrombocytopenia
OMIM:615597	STT3B	201595	HP:0001511	Intrauterine growth retardation
OMIM:615597	STT3B	201595	HP:0000007	Autosomal recessive inheritance
OMIM:615597	STT3B	201595	HP:0000054	Micropenis
OMIM:615597	STT3B	201595	HP:0001249	Intellectual disability
OMIM:615597	STT3B	201595	HP:0001252	Muscular hypotonia
OMIM:615597	STT3B	201595	HP:0003819	Death in childhood
OMIM:615597	STT3B	201595	HP:0001263	Global developmental delay
OMIM:613561	PUS1	80324	HP:0003546	Exercise intolerance
OMIM:613561	PUS1	80324	HP:0000639	Nystagmus
OMIM:613561	PUS1	80324	HP:0002151	Increased serum lactate
OMIM:613561	PUS1	80324	HP:0002240	Hepatomegaly
OMIM:613561	PUS1	80324	HP:0000007	Autosomal recessive inheritance
OMIM:613561	PUS1	80324	HP:0003128	Lactic acidosis
OMIM:613561	PUS1	80324	HP:0000508	Ptosis
OMIM:613561	PUS1	80324	HP:0002015	Dysphagia
OMIM:613561	PUS1	80324	HP:0002910	Elevated hepatic transaminases
OMIM:613561	PUS1	80324	HP:0003676	Progressive
OMIM:613561	PUS1	80324	HP:0001510	Growth delay
OMIM:613561	PUS1	80324	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613561	PUS1	80324	HP:0001508	Failure to thrive
OMIM:613561	PUS1	80324	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:613561	PUS1	80324	HP:0003812	Phenotypic variability
OMIM:613561	PUS1	80324	HP:0000486	Strabismus
OMIM:613561	YARS2	51067	HP:0003546	Exercise intolerance
OMIM:613561	YARS2	51067	HP:0000639	Nystagmus
OMIM:613561	YARS2	51067	HP:0002151	Increased serum lactate
OMIM:613561	YARS2	51067	HP:0002240	Hepatomegaly
OMIM:613561	YARS2	51067	HP:0000007	Autosomal recessive inheritance
OMIM:613561	YARS2	51067	HP:0003128	Lactic acidosis
OMIM:613561	YARS2	51067	HP:0000508	Ptosis
OMIM:613561	YARS2	51067	HP:0002015	Dysphagia
OMIM:613561	YARS2	51067	HP:0002910	Elevated hepatic transaminases
OMIM:613561	YARS2	51067	HP:0003676	Progressive
OMIM:613561	YARS2	51067	HP:0001510	Growth delay
OMIM:613561	YARS2	51067	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613561	YARS2	51067	HP:0001508	Failure to thrive
OMIM:613561	YARS2	51067	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:613561	YARS2	51067	HP:0003812	Phenotypic variability
OMIM:613561	YARS2	51067	HP:0000486	Strabismus
OMIM:136880	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:136880	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:136880	RLBP1	6017	HP:0012045	Retinal flecks
OMIM:136880	RDH5	5959	HP:0000662	Nyctalopia
OMIM:136880	RDH5	5959	HP:0000006	Autosomal dominant inheritance
OMIM:136880	RDH5	5959	HP:0012045	Retinal flecks
OMIM:136880	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:136880	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:136880	PRPH2	5961	HP:0012045	Retinal flecks
OMIM:136880	RHO	6010	HP:0000662	Nyctalopia
OMIM:136880	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:136880	RHO	6010	HP:0012045	Retinal flecks
OMIM:607785	MLLT11	10962	HP:0001428	Somatic mutation
OMIM:607785	MLLT11	10962	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:607785	CBL	867	HP:0001428	Somatic mutation
OMIM:607785	CBL	867	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:607785	ARHGAP26	23092	HP:0001428	Somatic mutation
OMIM:607785	ARHGAP26	23092	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:607785	PTPN11	5781	HP:0001428	Somatic mutation
OMIM:607785	PTPN11	5781	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:607785	KRAS	3845	HP:0001428	Somatic mutation
OMIM:607785	KRAS	3845	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:607785	NF1	4763	HP:0001428	Somatic mutation
OMIM:607785	NF1	4763	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:607785	NRAS	4893	HP:0001428	Somatic mutation
OMIM:607785	NRAS	4893	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:603511	DNAJB6	10049	HP:0003677	Slow progression
OMIM:603511	DNAJB6	10049	HP:0003560	Muscular dystrophy
OMIM:603511	DNAJB6	10049	HP:0003805	Rimmed vacuoles
OMIM:603511	DNAJB6	10049	HP:0002515	Waddling gait
OMIM:603511	DNAJB6	10049	HP:0002015	Dysphagia
OMIM:603511	DNAJB6	10049	HP:0003547	Shoulder girdle muscle weakness
OMIM:603511	DNAJB6	10049	HP:0003236	Elevated serum creatine phosphokinase
OMIM:603511	DNAJB6	10049	HP:0003749	Pelvic girdle muscle weakness
OMIM:603511	DNAJB6	10049	HP:0000006	Autosomal dominant inheritance
OMIM:603511	DNAJB6	10049	HP:0003581	Adult onset
OMIM:603511	DNAJB6	10049	HP:0003391	Gowers sign
OMIM:300643	SRPX2	27286	HP:0007359	Focal seizures
OMIM:300643	SRPX2	27286	HP:0001256	Intellectual disability, mild
OMIM:300643	SRPX2	27286	HP:0011098	Speech apraxia
OMIM:300643	SRPX2	27286	HP:0007095	Frontoparietal polymicrogyria
OMIM:300643	SRPX2	27286	HP:0000006	Autosomal dominant inheritance
OMIM:300643	GRIN2A	2903	HP:0007359	Focal seizures
OMIM:300643	GRIN2A	2903	HP:0001256	Intellectual disability, mild
OMIM:300643	GRIN2A	2903	HP:0011098	Speech apraxia
OMIM:300643	GRIN2A	2903	HP:0007095	Frontoparietal polymicrogyria
OMIM:300643	GRIN2A	2903	HP:0000006	Autosomal dominant inheritance
OMIM:610015	GLUL	2752	HP:0002983	Micromelia
OMIM:610015	GLUL	2752	HP:0005280	Depressed nasal bridge
OMIM:610015	GLUL	2752	HP:0001347	Hyperreflexia
OMIM:610015	GLUL	2752	HP:0001250	Seizures
OMIM:610015	GLUL	2752	HP:0002104	Apnea
OMIM:610015	GLUL	2752	HP:0001252	Muscular hypotonia
OMIM:610015	GLUL	2752	HP:0001371	Flexion contracture
OMIM:610015	GLUL	2752	HP:0001662	Bradycardia
OMIM:610015	GLUL	2752	HP:0000431	Wide nasal bridge
OMIM:610015	GLUL	2752	HP:0002093	Respiratory insufficiency
OMIM:610015	GLUL	2752	HP:0003429	CNS hypomyelination
OMIM:610015	GLUL	2752	HP:0001987	Hyperammonemia
OMIM:610015	GLUL	2752	HP:0000369	Low-set ears
OMIM:610015	GLUL	2752	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610015	GLUL	2752	HP:0011344	Severe global developmental delay
OMIM:610015	GLUL	2752	HP:0000007	Autosomal recessive inheritance
OMIM:610015	GLUL	2752	HP:0001298	Encephalopathy
OMIM:610015	GLUL	2752	HP:0000988	Skin rash
OMIM:610015	GLUL	2752	HP:0002119	Ventriculomegaly
OMIM:610015	GLUL	2752	HP:0001522	Death in infancy
OMIM:610015	GLUL	2752	HP:0012444	Brain atrophy
OMIM:167755	PDX1	3651	HP:0000819	Diabetes mellitus
OMIM:167755	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:167755	PDX1	3651	HP:0001732	Abnormality of the pancreas
OMIM:167755	PTF1A	256297	HP:0000819	Diabetes mellitus
OMIM:167755	PTF1A	256297	HP:0000006	Autosomal dominant inheritance
OMIM:167755	PTF1A	256297	HP:0001732	Abnormality of the pancreas
OMIM:615112	LRIG2	9860	HP:0002019	Constipation
OMIM:615112	LRIG2	9860	HP:0000076	Vesicoureteral reflux
OMIM:615112	LRIG2	9860	HP:0000083	Renal insufficiency
OMIM:615112	LRIG2	9860	HP:0000126	Hydronephrosis
OMIM:615112	LRIG2	9860	HP:0000805	Enuresis
OMIM:615112	LRIG2	9860	HP:0000010	Recurrent urinary tract infections
OMIM:615112	LRIG2	9860	HP:0000007	Autosomal recessive inheritance
OMIM:615112	HPSE2	60495	HP:0002019	Constipation
OMIM:615112	HPSE2	60495	HP:0000076	Vesicoureteral reflux
OMIM:615112	HPSE2	60495	HP:0000083	Renal insufficiency
OMIM:615112	HPSE2	60495	HP:0000126	Hydronephrosis
OMIM:615112	HPSE2	60495	HP:0000805	Enuresis
OMIM:615112	HPSE2	60495	HP:0000010	Recurrent urinary tract infections
OMIM:615112	HPSE2	60495	HP:0000007	Autosomal recessive inheritance
OMIM:300752	ALAS2	212	HP:0002910	Elevated hepatic transaminases
OMIM:300752	ALAS2	212	HP:0011463	Childhood onset
OMIM:300752	ALAS2	212	HP:0000992	Cutaneous photosensitivity
OMIM:300752	ALAS2	212	HP:0001423	X-linked dominant inheritance
OMIM:300752	ALAS2	212	HP:0001081	Cholelithiasis
OMIM:300752	FECH	2235	HP:0002910	Elevated hepatic transaminases
OMIM:300752	FECH	2235	HP:0011463	Childhood onset
OMIM:300752	FECH	2235	HP:0000992	Cutaneous photosensitivity
OMIM:300752	FECH	2235	HP:0001423	X-linked dominant inheritance
OMIM:300752	FECH	2235	HP:0001081	Cholelithiasis
OMIM:615481	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:615481	DNAAF2	55172	HP:0000789	Infertility
OMIM:615481	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:615481	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:615481	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:615481	CCNO	10309	HP:0000789	Infertility
OMIM:615481	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:615481	CCNO	10309	HP:0000246	Sinusitis
OMIM:615481	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:615481	DNAAF5	54919	HP:0000789	Infertility
OMIM:615481	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:615481	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:615481	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:615481	DNAAF3	352909	HP:0000789	Infertility
OMIM:615481	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:615481	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:615481	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:615481	DNAI1	27019	HP:0000789	Infertility
OMIM:615481	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:615481	DNAI1	27019	HP:0000246	Sinusitis
OMIM:615481	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:615481	DRC1	92749	HP:0000789	Infertility
OMIM:615481	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:615481	DRC1	92749	HP:0000246	Sinusitis
OMIM:615481	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:615481	SPAG1	6674	HP:0000789	Infertility
OMIM:615481	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:615481	SPAG1	6674	HP:0000246	Sinusitis
OMIM:615481	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:615481	RSPH3	83861	HP:0000789	Infertility
OMIM:615481	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:615481	RSPH3	83861	HP:0000246	Sinusitis
OMIM:615481	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:615481	RPGR	6103	HP:0000789	Infertility
OMIM:615481	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615481	RPGR	6103	HP:0000246	Sinusitis
OMIM:615481	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:615481	LRRC6	23639	HP:0000789	Infertility
OMIM:615481	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:615481	LRRC6	23639	HP:0000246	Sinusitis
OMIM:615481	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:615481	DNAL1	83544	HP:0000789	Infertility
OMIM:615481	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:615481	DNAL1	83544	HP:0000246	Sinusitis
OMIM:615481	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:615481	ARMC4	55130	HP:0000789	Infertility
OMIM:615481	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:615481	ARMC4	55130	HP:0000246	Sinusitis
OMIM:615481	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:615481	CCDC103	388389	HP:0000789	Infertility
OMIM:615481	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:615481	CCDC103	388389	HP:0000246	Sinusitis
OMIM:615481	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:615481	OFD1	8481	HP:0000789	Infertility
OMIM:615481	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615481	OFD1	8481	HP:0000246	Sinusitis
OMIM:615481	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:615481	DNAAF1	123872	HP:0000789	Infertility
OMIM:615481	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:615481	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:615481	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:615481	RSPH4A	345895	HP:0000789	Infertility
OMIM:615481	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:615481	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:615481	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:615481	RSPH1	89765	HP:0000789	Infertility
OMIM:615481	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:615481	RSPH1	89765	HP:0000246	Sinusitis
OMIM:615481	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:615481	ZMYND10	51364	HP:0000789	Infertility
OMIM:615481	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:615481	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:615481	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:615481	DNAH5	1767	HP:0000789	Infertility
OMIM:615481	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:615481	DNAH5	1767	HP:0000246	Sinusitis
OMIM:615481	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:615481	CCDC65	85478	HP:0000789	Infertility
OMIM:615481	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:615481	CCDC65	85478	HP:0000246	Sinusitis
OMIM:615481	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:615481	C21ORF59	56683	HP:0000789	Infertility
OMIM:615481	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:615481	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:615481	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:615481	DYX1C1	161582	HP:0000789	Infertility
OMIM:615481	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:615481	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:615481	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:615481	CCDC151	115948	HP:0000789	Infertility
OMIM:615481	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:615481	CCDC151	115948	HP:0000246	Sinusitis
OMIM:615481	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:615481	RSPH9	221421	HP:0000789	Infertility
OMIM:615481	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:615481	RSPH9	221421	HP:0000246	Sinusitis
OMIM:615481	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:615481	CCDC39	339829	HP:0000789	Infertility
OMIM:615481	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:615481	CCDC39	339829	HP:0000246	Sinusitis
OMIM:615481	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:615481	HYDIN	54768	HP:0000789	Infertility
OMIM:615481	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:615481	HYDIN	54768	HP:0000246	Sinusitis
OMIM:615481	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:615481	CCDC114	93233	HP:0000789	Infertility
OMIM:615481	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:615481	CCDC114	93233	HP:0000246	Sinusitis
OMIM:615481	NME8	51314	HP:0002110	Bronchiectasis
OMIM:615481	NME8	51314	HP:0000789	Infertility
OMIM:615481	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:615481	NME8	51314	HP:0000246	Sinusitis
OMIM:615481	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:615481	CCDC40	55036	HP:0000789	Infertility
OMIM:615481	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:615481	CCDC40	55036	HP:0000246	Sinusitis
OMIM:615481	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:615481	DNAH11	8701	HP:0000789	Infertility
OMIM:615481	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:615481	DNAH11	8701	HP:0000246	Sinusitis
OMIM:615481	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:615481	DNAI2	64446	HP:0000789	Infertility
OMIM:615481	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:615481	DNAI2	64446	HP:0000246	Sinusitis
OMIM:615481	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:615481	GAS8	2622	HP:0000789	Infertility
OMIM:615481	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:615481	GAS8	2622	HP:0000246	Sinusitis
OMIM:159950	ASAH1	427	HP:0001337	Tremor
OMIM:159950	ASAH1	427	HP:0002650	Scoliosis
OMIM:159950	ASAH1	427	HP:0100543	Cognitive impairment
OMIM:159950	ASAH1	427	HP:0001308	Tongue fasciculations
OMIM:159950	ASAH1	427	HP:0002355	Difficulty walking
OMIM:159950	ASAH1	427	HP:0001250	Seizures
OMIM:159950	ASAH1	427	HP:0001336	Myoclonus
OMIM:159950	ASAH1	427	HP:0002398	Degeneration of anterior horn cells
OMIM:159950	ASAH1	427	HP:0002359	Frequent falls
OMIM:159950	ASAH1	427	HP:0001284	Areflexia
OMIM:159950	ASAH1	427	HP:0003676	Progressive
OMIM:159950	ASAH1	427	HP:0002167	Neurological speech impairment
OMIM:159950	ASAH1	427	HP:0002353	EEG abnormality
OMIM:159950	ASAH1	427	HP:0000006	Autosomal dominant inheritance
OMIM:159950	ASAH1	427	HP:0003621	Juvenile onset
OMIM:159950	ASAH1	427	HP:0000726	Dementia
OMIM:159950	ASAH1	427	HP:0007269	Spinal muscular atrophy
OMIM:159950	ASAH1	427	HP:0003457	EMG abnormality
OMIM:159950	ASAH1	427	HP:0003391	Gowers sign
OMIM:159950	ASAH1	427	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:159950	ASAH1	427	HP:0002123	Generalized myoclonic seizures
OMIM:159950	ASAH1	427	HP:0002205	Recurrent respiratory infections
OMIM:159950	ASAH1	427	HP:0010628	Facial palsy
OMIM:159950	ASAH1	427	HP:0000007	Autosomal recessive inheritance
OMIM:159950	ASAH1	427	HP:0001288	Gait disturbance
OMIM:614203	GBA	2629	HP:0001300	Parkinsonism
OMIM:614203	GBA	2629	HP:0000006	Autosomal dominant inheritance
OMIM:614203	GBA	2629	HP:0100660	Dyskinesia
OMIM:614203	GBA	2629	HP:0002067	Bradykinesia
OMIM:614203	GBA	2629	HP:0002172	Postural instability
OMIM:614203	GBA	2629	HP:0002063	Rigidity
OMIM:614203	DNAJC13	23317	HP:0001300	Parkinsonism
OMIM:614203	DNAJC13	23317	HP:0000006	Autosomal dominant inheritance
OMIM:614203	DNAJC13	23317	HP:0100660	Dyskinesia
OMIM:614203	DNAJC13	23317	HP:0002067	Bradykinesia
OMIM:614203	DNAJC13	23317	HP:0002172	Postural instability
OMIM:614203	DNAJC13	23317	HP:0002063	Rigidity
OMIM:614203	VPS35	55737	HP:0001300	Parkinsonism
OMIM:614203	VPS35	55737	HP:0000006	Autosomal dominant inheritance
OMIM:614203	VPS35	55737	HP:0100660	Dyskinesia
OMIM:614203	VPS35	55737	HP:0002067	Bradykinesia
OMIM:614203	VPS35	55737	HP:0002172	Postural instability
OMIM:614203	VPS35	55737	HP:0002063	Rigidity
OMIM:614203	GIGYF2	26058	HP:0001300	Parkinsonism
OMIM:614203	GIGYF2	26058	HP:0000006	Autosomal dominant inheritance
OMIM:614203	GIGYF2	26058	HP:0100660	Dyskinesia
OMIM:614203	GIGYF2	26058	HP:0002067	Bradykinesia
OMIM:614203	GIGYF2	26058	HP:0002172	Postural instability
OMIM:614203	GIGYF2	26058	HP:0002063	Rigidity
OMIM:614203	LRRK2	120892	HP:0001300	Parkinsonism
OMIM:614203	LRRK2	120892	HP:0000006	Autosomal dominant inheritance
OMIM:614203	LRRK2	120892	HP:0100660	Dyskinesia
OMIM:614203	LRRK2	120892	HP:0002067	Bradykinesia
OMIM:614203	LRRK2	120892	HP:0002172	Postural instability
OMIM:614203	LRRK2	120892	HP:0002063	Rigidity
OMIM:614203	EIF4G1	1981	HP:0001300	Parkinsonism
OMIM:614203	EIF4G1	1981	HP:0000006	Autosomal dominant inheritance
OMIM:614203	EIF4G1	1981	HP:0100660	Dyskinesia
OMIM:614203	EIF4G1	1981	HP:0002067	Bradykinesia
OMIM:614203	EIF4G1	1981	HP:0002172	Postural instability
OMIM:614203	EIF4G1	1981	HP:0002063	Rigidity
OMIM:614203	SNCA	6622	HP:0001300	Parkinsonism
OMIM:614203	SNCA	6622	HP:0000006	Autosomal dominant inheritance
OMIM:614203	SNCA	6622	HP:0100660	Dyskinesia
OMIM:614203	SNCA	6622	HP:0002067	Bradykinesia
OMIM:614203	SNCA	6622	HP:0002172	Postural instability
OMIM:614203	SNCA	6622	HP:0002063	Rigidity
OMIM:602092	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:602092	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:602092	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:602092	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:602092	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:602092	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:602092	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:602092	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:602092	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:602092	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:602092	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:602092	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:602092	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:602092	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:602092	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:602092	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:602092	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:602092	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:602092	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:602092	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:602092	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:602092	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:602092	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:602092	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:602092	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:602092	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:602092	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:602092	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:602092	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:602092	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:602092	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:602092	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:602092	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:602092	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:602092	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:602092	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:602092	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:602092	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:602092	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:602092	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:602092	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:602092	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:602092	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:602092	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:602092	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:602092	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:602092	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:602092	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:602092	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:602092	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:602092	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:602092	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:602092	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:602092	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:602092	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:602092	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:602092	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:602092	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:602092	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:602092	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:602092	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:602092	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:602092	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:602092	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:602092	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:602092	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:602092	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:602092	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:602092	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:602092	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:602092	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:602092	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:602092	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:602092	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:602092	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:602092	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:602092	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:602092	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:602092	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:602092	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:602092	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:602092	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:602092	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:602092	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:602092	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:602092	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:602092	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:602092	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:602092	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:602092	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:602092	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:602092	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:602092	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:602092	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:602092	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:602092	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:602092	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:602092	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:602092	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:602092	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:602092	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:602092	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:602092	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:602092	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:602092	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:602092	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:602092	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:602092	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:602092	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:602092	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:602092	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:602092	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:602092	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:602092	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:602092	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:602092	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:602092	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:602092	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:602092	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:602092	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:222730	SLC1A1	6505	HP:0000007	Autosomal recessive inheritance
OMIM:222730	SLC1A1	6505	HP:0001249	Intellectual disability
OMIM:222730	SLC1A1	6505	HP:0003355	Aminoaciduria
OMIM:609220	PLOD2	5352	HP:0000007	Autosomal recessive inheritance
OMIM:609220	PLOD2	5352	HP:0002645	Wormian bones
OMIM:609220	PLOD2	5352	HP:0000023	Inguinal hernia
OMIM:609220	PLOD2	5352	HP:0000938	Osteopenia
OMIM:609220	PLOD2	5352	HP:0004322	Short stature
OMIM:609220	PLOD2	5352	HP:0000768	Pectus carinatum
OMIM:609220	PLOD2	5352	HP:0001762	Talipes equinovarus
OMIM:609220	PLOD2	5352	HP:0002659	Increased susceptibility to fractures
OMIM:609220	PLOD2	5352	HP:0001371	Flexion contracture
OMIM:609220	PLOD2	5352	HP:0000926	Platyspondyly
OMIM:609220	PLOD2	5352	HP:0002987	Elbow flexion contracture
OMIM:609220	PLOD2	5352	HP:0006380	Knee flexion contracture
OMIM:609220	PLOD2	5352	HP:0002980	Femoral bowing
OMIM:609220	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:609220	FKBP10	60681	HP:0002645	Wormian bones
OMIM:609220	FKBP10	60681	HP:0000023	Inguinal hernia
OMIM:609220	FKBP10	60681	HP:0000938	Osteopenia
OMIM:609220	FKBP10	60681	HP:0004322	Short stature
OMIM:609220	FKBP10	60681	HP:0000768	Pectus carinatum
OMIM:609220	FKBP10	60681	HP:0001762	Talipes equinovarus
OMIM:609220	FKBP10	60681	HP:0002659	Increased susceptibility to fractures
OMIM:609220	FKBP10	60681	HP:0001371	Flexion contracture
OMIM:609220	FKBP10	60681	HP:0000926	Platyspondyly
OMIM:609220	FKBP10	60681	HP:0002987	Elbow flexion contracture
OMIM:609220	FKBP10	60681	HP:0006380	Knee flexion contracture
OMIM:609220	FKBP10	60681	HP:0002980	Femoral bowing
OMIM:100100	CHRM3	1131	HP:0001374	Congenital hip dislocation
OMIM:100100	CHRM3	1131	HP:0000072	Hydroureter
OMIM:100100	CHRM3	1131	HP:0001631	Atria septal defect
OMIM:100100	CHRM3	1131	HP:0002023	Anal atresia
OMIM:100100	CHRM3	1131	HP:0002019	Constipation
OMIM:100100	CHRM3	1131	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:100100	CHRM3	1131	HP:0001562	Oligohydramnios
OMIM:100100	CHRM3	1131	HP:0000772	Abnormality of the ribs
OMIM:100100	CHRM3	1131	HP:0003422	Vertebral segmentation defect
OMIM:100100	CHRM3	1131	HP:0001883	Talipes
OMIM:100100	CHRM3	1131	HP:0000951	Abnormality of the skin
OMIM:100100	CHRM3	1131	HP:0000767	Pectus excavatum
OMIM:100100	CHRM3	1131	HP:0000007	Autosomal recessive inheritance
OMIM:100100	CHRM3	1131	HP:0000768	Pectus carinatum
OMIM:100100	CHRM3	1131	HP:0002205	Recurrent respiratory infections
OMIM:100100	CHRM3	1131	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:100100	CHRM3	1131	HP:0000010	Recurrent urinary tract infections
OMIM:100100	CHRM3	1131	HP:0000003	Multicystic kidney dysplasia
OMIM:100100	CHRM3	1131	HP:0001643	Patent ductus arteriosus
OMIM:100100	CHRM3	1131	HP:0000028	Cryptorchidism
OMIM:100100	CHRM3	1131	HP:0000076	Vesicoureteral reflux
OMIM:100100	CHRM3	1131	HP:0001629	Ventricular septal defect
OMIM:100100	CHRM3	1131	HP:0100779	Urogenital sinus anomaly
OMIM:100100	CHRM3	1131	HP:0100589	Urogenital fistula
OMIM:100100	CHRM3	1131	HP:0000126	Hydronephrosis
OMIM:100100	CHRM3	1131	HP:0100543	Cognitive impairment
OMIM:100100	CHRM3	1131	HP:0000144	Decreased fertility
OMIM:100100	CHRM3	1131	HP:0000083	Renal insufficiency
OMIM:100100	CHRM3	1131	HP:0002566	Intestinal malrotation
OMIM:100100	CHRM3	1131	HP:0001636	Tetralogy of Fallot
OMIM:100100	CHRM3	1131	HP:0000217	Xerostomia
OMIM:100100	CHRM3	1131	HP:0001762	Talipes equinovarus
OMIM:100100	CHRM3	1131	HP:0003272	Abnormality of the hip bone
OMIM:100100	CHRM3	1131	HP:0002650	Scoliosis
OMIM:613677	KCNJ5	3762	HP:0001942	Metabolic acidosis
OMIM:613677	KCNJ5	3762	HP:0008221	Adrenal hyperplasia
OMIM:613677	KCNJ5	3762	HP:0000822	Hypertension
OMIM:613677	KCNJ5	3762	HP:0002150	Hypercalciuria
OMIM:613677	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:607683	DIAPH1	1729	HP:0000365	Hearing impairment
OMIM:607683	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:607683	CEACAM16	388551	HP:0000365	Hearing impairment
OMIM:607683	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:607683	SLC17A8	246213	HP:0000365	Hearing impairment
OMIM:607683	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:607683	TJP2	9414	HP:0000365	Hearing impairment
OMIM:607683	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:607683	ACTG1	71	HP:0000365	Hearing impairment
OMIM:607683	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:607683	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:607683	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:607683	MIR96	407053	HP:0000365	Hearing impairment
OMIM:607683	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:607683	GJB2	2706	HP:0000365	Hearing impairment
OMIM:607683	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:607683	POU4F3	5459	HP:0000365	Hearing impairment
OMIM:607683	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:607683	GJB3	2707	HP:0000365	Hearing impairment
OMIM:607683	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:607683	MYH9	4627	HP:0000365	Hearing impairment
OMIM:607683	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:607683	CRYM	1428	HP:0000365	Hearing impairment
OMIM:607683	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:607683	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:607683	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:607683	EYA4	2070	HP:0000365	Hearing impairment
OMIM:607683	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:607683	DFNA5	1687	HP:0000365	Hearing impairment
OMIM:607683	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:607683	DIAPH3	81624	HP:0000365	Hearing impairment
OMIM:607683	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:607683	TMC1	117531	HP:0000365	Hearing impairment
OMIM:607683	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:607683	COCH	1690	HP:0000365	Hearing impairment
OMIM:607683	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:607683	OSBPL2	9885	HP:0000365	Hearing impairment
OMIM:607683	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:607683	SIX1	6495	HP:0000365	Hearing impairment
OMIM:607683	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:607683	TECTA	7007	HP:0000365	Hearing impairment
OMIM:607683	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:607683	MYO1A	4640	HP:0000365	Hearing impairment
OMIM:607683	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:607683	MYO1C	4641	HP:0000365	Hearing impairment
OMIM:607683	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:607683	MYO6	4646	HP:0000365	Hearing impairment
OMIM:607683	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:607683	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:607683	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:607683	GRHL2	79977	HP:0000365	Hearing impairment
OMIM:607683	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:607683	DIABLO	56616	HP:0000365	Hearing impairment
OMIM:607683	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:607683	MYH14	79784	HP:0000365	Hearing impairment
OMIM:607683	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:607683	P2RX2	22953	HP:0000365	Hearing impairment
OMIM:607683	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:607683	WFS1	7466	HP:0000365	Hearing impairment
OMIM:607683	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:607683	TNC	3371	HP:0000365	Hearing impairment
OMIM:607683	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:607683	KCNQ4	9132	HP:0000365	Hearing impairment
OMIM:607683	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:607683	HOMER2	9455	HP:0000365	Hearing impairment
OMIM:607683	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:607683	GJB6	10804	HP:0000365	Hearing impairment
OMIM:607683	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:607683	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:607683	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:604928	CISD2	493856	HP:0002592	Gastric ulcer
OMIM:604928	CISD2	493856	HP:0000407	Sensorineural hearing impairment
OMIM:604928	CISD2	493856	HP:0000819	Diabetes mellitus
OMIM:604928	CISD2	493856	HP:0000007	Autosomal recessive inheritance
OMIM:604928	CISD2	493856	HP:0000648	Optic atrophy
OMIM:604928	CISD2	493856	HP:0001138	Optic neuropathy
OMIM:604928	CISD2	493856	HP:0001892	Abnormal bleeding
OMIM:604928	WFS1	7466	HP:0002592	Gastric ulcer
OMIM:604928	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:604928	WFS1	7466	HP:0000819	Diabetes mellitus
OMIM:604928	WFS1	7466	HP:0000007	Autosomal recessive inheritance
OMIM:604928	WFS1	7466	HP:0000648	Optic atrophy
OMIM:604928	WFS1	7466	HP:0001138	Optic neuropathy
OMIM:604928	WFS1	7466	HP:0001892	Abnormal bleeding
OMIM:605039	ASXL1	171023	HP:0001831	Short toe
OMIM:605039	ASXL1	171023	HP:0010306	Short thorax
OMIM:605039	ASXL1	171023	HP:0000341	Narrow forehead
OMIM:605039	ASXL1	171023	HP:0001376	Limitation of joint mobility
OMIM:605039	ASXL1	171023	HP:0000278	Retrognathia
OMIM:605039	ASXL1	171023	HP:0000358	Posteriorly rotated ears
OMIM:605039	ASXL1	171023	HP:0000369	Low-set ears
OMIM:605039	ASXL1	171023	HP:0000316	Hypertelorism
OMIM:605039	ASXL1	171023	HP:0002208	Coarse hair
OMIM:605039	ASXL1	171023	HP:0000582	Upslanted palpebral fissure
OMIM:605039	ASXL1	171023	HP:0001511	Intrauterine growth retardation
OMIM:605039	ASXL1	171023	HP:0011220	Prominent forehead
OMIM:605039	ASXL1	171023	HP:0000252	Microcephaly
OMIM:605039	ASXL1	171023	HP:0001883	Talipes
OMIM:605039	ASXL1	171023	HP:0001629	Ventricular septal defect
OMIM:605039	ASXL1	171023	HP:0001561	Polyhydramnios
OMIM:605039	ASXL1	171023	HP:0002566	Intestinal malrotation
OMIM:605039	ASXL1	171023	HP:0003042	Elbow dislocation
OMIM:605039	ASXL1	171023	HP:0001274	Agenesis of corpus callosum
OMIM:605039	ASXL1	171023	HP:0100490	Camptodactyly of finger
OMIM:605039	ASXL1	171023	HP:0000486	Strabismus
OMIM:605039	ASXL1	171023	HP:0009465	Ulnar deviation of finger
OMIM:605039	ASXL1	171023	HP:0000276	Long face
OMIM:605039	ASXL1	171023	HP:0000294	Low anterior hairline
OMIM:605039	ASXL1	171023	HP:0001732	Abnormality of the pancreas
OMIM:605039	ASXL1	171023	HP:0000243	Trigonocephaly
OMIM:605039	ASXL1	171023	HP:0002187	Intellectual disability, profound
OMIM:605039	ASXL1	171023	HP:0000007	Autosomal recessive inheritance
OMIM:605039	ASXL1	171023	HP:0000520	Proptosis
OMIM:605039	ASXL1	171023	HP:0000347	Micrognathia
OMIM:605039	ASXL1	171023	HP:0004299	Hernia of the abdominal wall
OMIM:605039	ASXL1	171023	HP:0001631	Atria septal defect
OMIM:605039	ASXL1	171023	HP:0000189	Narrow palate
OMIM:605039	ASXL1	171023	HP:0000488	Retinopathy
OMIM:605039	ASXL1	171023	HP:0000368	Low-set, posteriorly rotated ears
OMIM:605039	ASXL1	171023	HP:0001305	Dandy-Walker malformation
OMIM:605039	ASXL1	171023	HP:0000587	Abnormality of the optic nerve
OMIM:605039	ASXL1	171023	HP:0009891	Underdeveloped supraorbital ridges
OMIM:605039	ASXL1	171023	HP:0001182	Tapered finger
OMIM:605039	ASXL1	171023	HP:0002558	Supernumerary nipple
OMIM:605039	ASXL1	171023	HP:0000444	Convex nasal ridge
OMIM:605039	ASXL1	171023	HP:0000204	Cleft upper lip
OMIM:605039	ASXL1	171023	HP:0000006	Autosomal dominant inheritance
OMIM:605039	ASXL1	171023	HP:0000077	Abnormality of the kidney
OMIM:605039	ASXL1	171023	HP:0000293	Full cheeks
OMIM:605039	ASXL1	171023	HP:0001159	Syndactyly
OMIM:605039	ASXL1	171023	HP:0000431	Wide nasal bridge
OMIM:605039	ASXL1	171023	HP:0001250	Seizures
OMIM:605039	ASXL1	171023	HP:0000545	Myopia
OMIM:605039	ASXL1	171023	HP:0002079	Hypoplasia of the corpus callosum
OMIM:605039	ASXL1	171023	HP:0006610	Wide intermamillary distance
OMIM:605039	ASXL1	171023	HP:0000175	Cleft palate
OMIM:605039	ASXL1	171023	HP:0002365	Hypoplasia of the brainstem
OMIM:605039	ASXL1	171023	HP:0000593	Abnormality of the anterior chamber
OMIM:605039	ASXL1	171023	HP:0100543	Cognitive impairment
OMIM:605039	ASXL1	171023	HP:0000960	Sacral dimple
OMIM:605039	ASXL1	171023	HP:0001508	Failure to thrive
OMIM:605039	ASXL1	171023	HP:0012385	Camptodactyly
OMIM:605039	ASXL1	171023	HP:0001007	Hirsutism
OMIM:605039	ASXL1	171023	HP:0002020	Gastroesophageal reflux
OMIM:605039	ASXL1	171023	HP:0001252	Muscular hypotonia
OMIM:605039	ASXL1	171023	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:605039	ASXL1	171023	HP:0001845	Overlapping toe
OMIM:605039	ASXL1	171023	HP:0002120	Cerebral cortical atrophy
OMIM:605039	ASXL1	171023	HP:0001263	Global developmental delay
OMIM:605039	ASXL1	171023	HP:0002282	Heterotopia
OMIM:605039	ASXL1	171023	HP:0001773	Short foot
OMIM:605039	ASXL1	171023	HP:0000774	Narrow chest
OMIM:605039	ASXL1	171023	HP:0000664	Synophrys
OMIM:605039	ASXL1	171023	HP:0000365	Hearing impairment
OMIM:605039	ASXL1	171023	HP:0003083	Dislocated radial head
OMIM:605039	ASXL1	171023	HP:0000076	Vesicoureteral reflux
OMIM:605039	ASXL1	171023	HP:0011968	Feeding difficulties
OMIM:615504	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:615504	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:615504	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:615504	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:615504	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:615504	CCNO	10309	HP:0000246	Sinusitis
OMIM:615504	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:615504	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:615504	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:615504	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:615504	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:615504	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:615504	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:615504	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:615504	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:615504	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:615504	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:615504	DNAI1	27019	HP:0000246	Sinusitis
OMIM:615504	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:615504	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:615504	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:615504	DRC1	92749	HP:0000246	Sinusitis
OMIM:615504	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:615504	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:615504	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:615504	SPAG1	6674	HP:0000246	Sinusitis
OMIM:615504	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:615504	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:615504	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:615504	RSPH3	83861	HP:0000246	Sinusitis
OMIM:615504	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:615504	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:615504	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:615504	RPGR	6103	HP:0000246	Sinusitis
OMIM:615504	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:615504	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615504	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:615504	LRRC6	23639	HP:0000246	Sinusitis
OMIM:615504	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:615504	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:615504	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:615504	DNAL1	83544	HP:0000246	Sinusitis
OMIM:615504	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:615504	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:615504	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:615504	ARMC4	55130	HP:0000246	Sinusitis
OMIM:615504	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:615504	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:615504	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:615504	CCDC103	388389	HP:0000246	Sinusitis
OMIM:615504	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:615504	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:615504	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:615504	OFD1	8481	HP:0000246	Sinusitis
OMIM:615504	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:615504	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615504	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:615504	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:615504	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:615504	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:615504	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:615504	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:615504	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:615504	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:615504	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:615504	RSPH1	89765	HP:0000246	Sinusitis
OMIM:615504	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:615504	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:615504	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:615504	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:615504	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:615504	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:615504	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:615504	CCDC65	85478	HP:0000246	Sinusitis
OMIM:615504	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:615504	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:615504	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:615504	DNAH5	1767	HP:0000246	Sinusitis
OMIM:615504	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:615504	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:615504	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:615504	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:615504	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:615504	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:615504	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:615504	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:615504	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:615504	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:615504	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:615504	CCDC151	115948	HP:0000246	Sinusitis
OMIM:615504	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:615504	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:615504	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:615504	RSPH9	221421	HP:0000246	Sinusitis
OMIM:615504	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:615504	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:615504	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:615504	CCDC39	339829	HP:0000246	Sinusitis
OMIM:615504	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:615504	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:615504	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:615504	HYDIN	54768	HP:0000246	Sinusitis
OMIM:615504	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:615504	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:615504	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:615504	CCDC114	93233	HP:0000246	Sinusitis
OMIM:615504	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:615504	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:615504	NME8	51314	HP:0002110	Bronchiectasis
OMIM:615504	NME8	51314	HP:0000246	Sinusitis
OMIM:615504	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:615504	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:615504	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:615504	CCDC40	55036	HP:0000246	Sinusitis
OMIM:615504	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:615504	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:615504	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:615504	DNAH11	8701	HP:0000246	Sinusitis
OMIM:615504	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:615504	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:615504	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:615504	DNAI2	64446	HP:0000246	Sinusitis
OMIM:615504	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:615504	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:615504	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:615504	GAS8	2622	HP:0000246	Sinusitis
OMIM:615504	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:615504	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:300244	FLNA	2316	HP:0000190	Abnormality of oral frenula
OMIM:300244	FLNA	2316	HP:0011355	Localized skin lesion
OMIM:300244	FLNA	2316	HP:0010614	Fibroma
OMIM:300244	FLNA	2316	HP:0000508	Ptosis
OMIM:300244	FLNA	2316	HP:0001156	Brachydactyly syndrome
OMIM:300244	FLNA	2316	HP:0001000	Abnormality of skin pigmentation
OMIM:300244	FLNA	2316	HP:0001831	Short toe
OMIM:300244	FLNA	2316	HP:0000316	Hypertelorism
OMIM:300244	FLNA	2316	HP:0000612	Iris coloboma
OMIM:300244	FLNA	2316	HP:0005921	Abnormal ossification of hand bones
OMIM:300244	FLNA	2316	HP:0010675	Abnormal foot bone ossification
OMIM:300244	FLNA	2316	HP:0000272	Malar flattening
OMIM:300244	FLNA	2316	HP:0100490	Camptodactyly of finger
OMIM:300244	FLNA	2316	HP:0000369	Low-set ears
OMIM:300244	FLNA	2316	HP:0002828	Multiple joint contractures
OMIM:113900	SCN1B	6324	HP:0001279	Syncope
OMIM:113900	SCN1B	6324	HP:0001425	Heterogeneous
OMIM:113900	SCN1B	6324	HP:0001645	Sudden cardiac death
OMIM:113900	SCN1B	6324	HP:0002094	Dyspnea
OMIM:113900	SCN1B	6324	HP:0011712	Right bundle branch block
OMIM:113900	SCN1B	6324	HP:0001699	Sudden death
OMIM:113900	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:113900	NKX2-5	1482	HP:0001279	Syncope
OMIM:113900	NKX2-5	1482	HP:0001425	Heterogeneous
OMIM:113900	NKX2-5	1482	HP:0001645	Sudden cardiac death
OMIM:113900	NKX2-5	1482	HP:0002094	Dyspnea
OMIM:113900	NKX2-5	1482	HP:0011712	Right bundle branch block
OMIM:113900	NKX2-5	1482	HP:0001699	Sudden death
OMIM:113900	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:113900	SCN5A	6331	HP:0001279	Syncope
OMIM:113900	SCN5A	6331	HP:0001425	Heterogeneous
OMIM:113900	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:113900	SCN5A	6331	HP:0002094	Dyspnea
OMIM:113900	SCN5A	6331	HP:0011712	Right bundle branch block
OMIM:113900	SCN5A	6331	HP:0001699	Sudden death
OMIM:113900	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:113900	TRPM4	54795	HP:0001279	Syncope
OMIM:113900	TRPM4	54795	HP:0001425	Heterogeneous
OMIM:113900	TRPM4	54795	HP:0001645	Sudden cardiac death
OMIM:113900	TRPM4	54795	HP:0002094	Dyspnea
OMIM:113900	TRPM4	54795	HP:0011712	Right bundle branch block
OMIM:113900	TRPM4	54795	HP:0001699	Sudden death
OMIM:113900	TRPM4	54795	HP:0000006	Autosomal dominant inheritance
ORPHANET:2020	HACD1	9200	HP:0002205	Recurrent respiratory infections
ORPHANET:2020	HACD1	9200	HP:0003198	Myopathy
ORPHANET:2020	HACD1	9200	HP:0000767	Pectus excavatum
ORPHANET:2020	HACD1	9200	HP:0002650	Scoliosis
ORPHANET:2020	HACD1	9200	HP:0001252	Muscular hypotonia
ORPHANET:2020	HACD1	9200	HP:0001315	Reduced tendon reflexes
ORPHANET:2020	TPM2	7169	HP:0002205	Recurrent respiratory infections
ORPHANET:2020	TPM2	7169	HP:0003198	Myopathy
ORPHANET:2020	TPM2	7169	HP:0000767	Pectus excavatum
ORPHANET:2020	TPM2	7169	HP:0002650	Scoliosis
ORPHANET:2020	TPM2	7169	HP:0001252	Muscular hypotonia
ORPHANET:2020	TPM2	7169	HP:0001315	Reduced tendon reflexes
ORPHANET:2020	TPM3	7170	HP:0002205	Recurrent respiratory infections
ORPHANET:2020	TPM3	7170	HP:0003198	Myopathy
ORPHANET:2020	TPM3	7170	HP:0000767	Pectus excavatum
ORPHANET:2020	TPM3	7170	HP:0002650	Scoliosis
ORPHANET:2020	TPM3	7170	HP:0001252	Muscular hypotonia
ORPHANET:2020	TPM3	7170	HP:0001315	Reduced tendon reflexes
ORPHANET:2020	SEPN1	57190	HP:0002205	Recurrent respiratory infections
ORPHANET:2020	SEPN1	57190	HP:0003198	Myopathy
ORPHANET:2020	SEPN1	57190	HP:0000767	Pectus excavatum
ORPHANET:2020	SEPN1	57190	HP:0002650	Scoliosis
ORPHANET:2020	SEPN1	57190	HP:0001252	Muscular hypotonia
ORPHANET:2020	SEPN1	57190	HP:0001315	Reduced tendon reflexes
ORPHANET:2020	MYL2	4633	HP:0002205	Recurrent respiratory infections
ORPHANET:2020	MYL2	4633	HP:0003198	Myopathy
ORPHANET:2020	MYL2	4633	HP:0000767	Pectus excavatum
ORPHANET:2020	MYL2	4633	HP:0002650	Scoliosis
ORPHANET:2020	MYL2	4633	HP:0001252	Muscular hypotonia
ORPHANET:2020	MYL2	4633	HP:0001315	Reduced tendon reflexes
ORPHANET:2020	ACTA1	58	HP:0002205	Recurrent respiratory infections
ORPHANET:2020	ACTA1	58	HP:0003198	Myopathy
ORPHANET:2020	ACTA1	58	HP:0000767	Pectus excavatum
ORPHANET:2020	ACTA1	58	HP:0002650	Scoliosis
ORPHANET:2020	ACTA1	58	HP:0001252	Muscular hypotonia
ORPHANET:2020	ACTA1	58	HP:0001315	Reduced tendon reflexes
ORPHANET:2020	ITGA7	3679	HP:0002205	Recurrent respiratory infections
ORPHANET:2020	ITGA7	3679	HP:0003198	Myopathy
ORPHANET:2020	ITGA7	3679	HP:0000767	Pectus excavatum
ORPHANET:2020	ITGA7	3679	HP:0002650	Scoliosis
ORPHANET:2020	ITGA7	3679	HP:0001252	Muscular hypotonia
ORPHANET:2020	ITGA7	3679	HP:0001315	Reduced tendon reflexes
OMIM:311790	PFKFB1	5207	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:311790	PFKFB1	5207	HP:0001417	X-linked inheritance
OMIM:610212	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:610212	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:610212	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:610212	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:610212	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:610212	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:610212	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:610212	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:610212	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:610212	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:610212	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:610212	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:610212	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:610212	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:610212	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:610212	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:610212	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:610212	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:610212	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:610212	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:610212	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:610212	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:610212	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:610212	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:610212	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:610212	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:610212	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:610212	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:610212	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:610212	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:610212	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:610212	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:610212	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:610212	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:610212	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:610212	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:610212	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:610212	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:610212	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:610212	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:610212	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:610212	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:610212	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:610212	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:610212	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:610212	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:610212	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:610212	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:610212	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:610212	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:610212	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:610212	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:610212	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:610212	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:610212	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:610212	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:610212	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:610212	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:610212	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:610212	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:229800	KHK	3795	HP:0000007	Autosomal recessive inheritance
ORPHANET:2704	LRIG2	9860	HP:0000028	Cryptorchidism
ORPHANET:2704	LRIG2	9860	HP:0000083	Renal insufficiency
ORPHANET:2704	LRIG2	9860	HP:0000076	Vesicoureteral reflux
ORPHANET:2704	LRIG2	9860	HP:0000822	Hypertension
ORPHANET:2704	LRIG2	9860	HP:0002019	Constipation
ORPHANET:2704	LRIG2	9860	HP:0002607	Bowel incontinence
ORPHANET:2704	LRIG2	9860	HP:0000795	Abnormality of the urethra
ORPHANET:2704	LRIG2	9860	HP:0000010	Recurrent urinary tract infections
ORPHANET:2704	HPSE2	60495	HP:0000028	Cryptorchidism
ORPHANET:2704	HPSE2	60495	HP:0000083	Renal insufficiency
ORPHANET:2704	HPSE2	60495	HP:0000076	Vesicoureteral reflux
ORPHANET:2704	HPSE2	60495	HP:0000822	Hypertension
ORPHANET:2704	HPSE2	60495	HP:0002019	Constipation
ORPHANET:2704	HPSE2	60495	HP:0002607	Bowel incontinence
ORPHANET:2704	HPSE2	60495	HP:0000795	Abnormality of the urethra
ORPHANET:2704	HPSE2	60495	HP:0000010	Recurrent urinary tract infections
OMIM:277700	WRN	7486	HP:0100526	Neoplasm of the lung
OMIM:277700	WRN	7486	HP:0002669	Osteosarcoma
OMIM:277700	WRN	7486	HP:0000869	Secondary amenorrhea
OMIM:277700	WRN	7486	HP:0009726	Renal neoplasm
OMIM:277700	WRN	7486	HP:0003202	Skeletal muscle atrophy
OMIM:277700	WRN	7486	HP:0100659	Abnormality of the cerebral vasculature
OMIM:277700	WRN	7486	HP:0002858	Meningioma
OMIM:277700	WRN	7486	HP:0000518	Cataract
OMIM:277700	WRN	7486	HP:0010721	Abnormal hair whorl
OMIM:277700	WRN	7486	HP:0100578	Lipoatrophy
OMIM:277700	WRN	7486	HP:0000035	Abnormality of the testis
OMIM:277700	WRN	7486	HP:0000144	Decreased fertility
OMIM:277700	WRN	7486	HP:0001601	Laryngomalacia
OMIM:277700	WRN	7486	HP:0100615	Ovarian neoplasm
OMIM:277700	WRN	7486	HP:0004322	Short stature
OMIM:277700	WRN	7486	HP:0007703	Abnormality of retinal pigmentation
OMIM:277700	WRN	7486	HP:0001608	Abnormality of the voice
OMIM:277700	WRN	7486	HP:0011362	Abnormal hair quantity
OMIM:277700	WRN	7486	HP:0002211	White forelock
OMIM:277700	WRN	7486	HP:0100031	Neoplasm of the thyroid gland
OMIM:277700	WRN	7486	HP:0000007	Autosomal recessive inheritance
OMIM:277700	WRN	7486	HP:0007618	Subcutaneous calcification
OMIM:277700	WRN	7486	HP:0000765	Abnormality of the thorax
OMIM:277700	WRN	7486	HP:0000939	Osteoporosis
OMIM:277700	WRN	7486	HP:0000444	Convex nasal ridge
OMIM:277700	WRN	7486	HP:0000546	Retinal degeneration
OMIM:277700	WRN	7486	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:277700	WRN	7486	HP:0000135	Hypogonadism
OMIM:277700	WRN	7486	HP:0005328	Progeroid facial appearance
OMIM:277700	WRN	7486	HP:0001595	Abnormality of the hair
OMIM:277700	WRN	7486	HP:0004414	Abnormality of the pulmonary artery
OMIM:277700	WRN	7486	HP:0003777	Pili torti
OMIM:277700	WRN	7486	HP:0100649	Neoplasm of the oral cavity
OMIM:277700	WRN	7486	HP:0004279	Short palm
OMIM:277700	WRN	7486	HP:0000934	Chondrocalcinosis
OMIM:277700	WRN	7486	HP:0100013	Neoplasm of the breast
OMIM:277700	WRN	7486	HP:0008069	Neoplasm of the skin
OMIM:277700	WRN	7486	HP:0000822	Hypertension
OMIM:277700	WRN	7486	HP:0200042	Skin ulcer
OMIM:277700	WRN	7486	HP:0001677	Coronary artery disease
OMIM:277700	WRN	7486	HP:0005177	Premature arteriosclerosis
OMIM:277700	WRN	7486	HP:0100833	Neoplasm of the small intestine
OMIM:277700	WRN	7486	HP:0001376	Limitation of joint mobility
OMIM:277700	WRN	7486	HP:0007495	Prematurely aged appearance
OMIM:277700	WRN	7486	HP:0000962	Hyperkeratosis
OMIM:277700	WRN	7486	HP:0100585	Telangiectasia of the skin
OMIM:277700	WRN	7486	HP:0004349	Reduced bone mineral density
OMIM:277700	WRN	7486	HP:0001635	Congestive heart failure
OMIM:277700	WRN	7486	HP:0000819	Diabetes mellitus
OMIM:277700	WRN	7486	HP:0001838	Rocker bottom foot
OMIM:277700	WRN	7486	HP:0011001	Increased bone mineral density
OMIM:277700	WRN	7486	HP:0000275	Narrow face
OMIM:277700	WRN	7486	HP:0100679	Lack of skin elasticity
OMIM:206700	PAX6	5080	HP:0001249	Intellectual disability
OMIM:206700	PAX6	5080	HP:0001321	Cerebellar hypoplasia
OMIM:206700	PAX6	5080	HP:0002167	Neurological speech impairment
OMIM:206700	PAX6	5080	HP:0000298	Mask-like facies
OMIM:206700	PAX6	5080	HP:0004414	Abnormality of the pulmonary artery
OMIM:206700	PAX6	5080	HP:0001251	Ataxia
OMIM:206700	PAX6	5080	HP:0001252	Muscular hypotonia
OMIM:206700	PAX6	5080	HP:0002311	Incoordination
OMIM:206700	PAX6	5080	HP:0000364	Hearing abnormality
OMIM:206700	PAX6	5080	HP:0000007	Autosomal recessive inheritance
OMIM:206700	PAX6	5080	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:206700	PAX6	5080	HP:0100543	Cognitive impairment
OMIM:206700	PAX6	5080	HP:0100022	Abnormality of movement
OMIM:150600	COL2A1	1280	HP:0002750	Delayed skeletal maturation
OMIM:150600	COL2A1	1280	HP:0003202	Skeletal muscle atrophy
OMIM:150600	COL2A1	1280	HP:0000164	Abnormality of the teeth
OMIM:150600	COL2A1	1280	HP:0002829	Arthralgia
OMIM:150600	COL2A1	1280	HP:0004322	Short stature
OMIM:607323	SALL4	57167	HP:0010109	Short hallux
OMIM:607323	SALL4	57167	HP:0002023	Anal atresia
OMIM:607323	SALL4	57167	HP:0004736	Crossed fused renal ectopia
OMIM:607323	SALL4	57167	HP:0001177	Preaxial hand polydactyly
OMIM:607323	SALL4	57167	HP:0000612	Iris coloboma
OMIM:607323	SALL4	57167	HP:0000619	Impaired convergence
OMIM:607323	SALL4	57167	HP:0008588	Slit-like opening of the exterior auditory meatus
OMIM:607323	SALL4	57167	HP:0001770	Toe syndactyly
OMIM:607323	SALL4	57167	HP:0002997	Abnormality of the ulna
OMIM:607323	SALL4	57167	HP:0002984	Hypoplasia of the radius
OMIM:607323	SALL4	57167	HP:0000452	Choanal stenosis
OMIM:607323	SALL4	57167	HP:0000487	Congenital strabismus
OMIM:607323	SALL4	57167	HP:0100542	Abnormal localization of kidney
OMIM:607323	SALL4	57167	HP:0000286	Epicanthus
OMIM:607323	SALL4	57167	HP:0001852	Sandal gap
OMIM:607323	SALL4	57167	HP:0000453	Choanal atresia
OMIM:607323	SALL4	57167	HP:0000407	Sensorineural hearing impairment
OMIM:607323	SALL4	57167	HP:0000480	Retinal coloboma
OMIM:607323	SALL4	57167	HP:0000639	Nystagmus
OMIM:607323	SALL4	57167	HP:0001883	Talipes
OMIM:607323	SALL4	57167	HP:0000542	Impaired ocular adduction
OMIM:607323	SALL4	57167	HP:0000508	Ptosis
OMIM:607323	SALL4	57167	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:607323	SALL4	57167	HP:0001636	Tetralogy of Fallot
OMIM:607323	SALL4	57167	HP:0000316	Hypertelorism
OMIM:607323	SALL4	57167	HP:0004059	Radial club hand
OMIM:607323	SALL4	57167	HP:0100258	Preaxial polydactyly
OMIM:607323	SALL4	57167	HP:0000076	Vesicoureteral reflux
OMIM:607323	SALL4	57167	HP:0000104	Renal agenesis
OMIM:607323	SALL4	57167	HP:0000324	Facial asymmetry
OMIM:607323	SALL4	57167	HP:0001629	Ventricular septal defect
OMIM:607323	SALL4	57167	HP:0000568	Microphthalmia
OMIM:607323	SALL4	57167	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:607323	SALL4	57167	HP:0000634	Impaired ocular abduction
OMIM:607323	SALL4	57167	HP:0003298	Spina bifida occulta
OMIM:607323	SALL4	57167	HP:0000482	Microcornea
OMIM:607323	SALL4	57167	HP:0009777	Absent thumb
OMIM:607323	SALL4	57167	HP:0002251	Aganglionic megacolon
OMIM:607323	SALL4	57167	HP:0000518	Cataract
OMIM:607323	SALL4	57167	HP:0001739	Abnormality of the nasopharynx
OMIM:607323	SALL4	57167	HP:0001763	Pes planus
OMIM:607323	SALL4	57167	HP:0010628	Facial palsy
OMIM:607323	SALL4	57167	HP:0009486	Radial deviation of the hand
OMIM:607323	SALL4	57167	HP:0003812	Phenotypic variability
OMIM:607323	SALL4	57167	HP:0009778	Short thumb
OMIM:607323	SALL4	57167	HP:0009921	Duane anomaly
OMIM:607323	SALL4	57167	HP:0000661	Palpebral fissure narrowing on adduction
OMIM:607323	SALL4	57167	HP:0000567	Chorioretinal coloboma
OMIM:607323	SALL4	57167	HP:0002949	Fused cervical vertebrae
OMIM:607323	SALL4	57167	HP:0007766	Optic disc hypoplasia
OMIM:607323	SALL4	57167	HP:0000006	Autosomal dominant inheritance
OMIM:607323	SALL4	57167	HP:0000405	Conductive hearing impairment
OMIM:607323	SALL4	57167	HP:0000089	Renal hypoplasia
OMIM:607323	SALL4	57167	HP:0003974	Absent radius
OMIM:607323	SALL4	57167	HP:0000126	Hydronephrosis
OMIM:607323	SALL4	57167	HP:0001199	Triphalangeal thumb
OMIM:607323	SALL4	57167	HP:0001631	Atria septal defect
OMIM:607323	SALL4	57167	HP:0003063	Abnormality of the humerus
OMIM:607323	SALL4	57167	HP:0003022	Hypoplasia of the ulna
OMIM:607323	SALL4	57167	HP:0000581	Blepharophimosis
OMIM:607323	SALL4	57167	HP:0003422	Vertebral segmentation defect
OMIM:607323	SALL4	57167	HP:0001841	Preaxial foot polydactyly
OMIM:607323	SALL4	57167	HP:0008998	Pectoralis hypoplasia
OMIM:607323	SALL4	57167	HP:0000588	Optic nerve coloboma
OMIM:607323	SALL4	57167	HP:0010048	Aplasia of metacarpal bones
OMIM:607323	SALL4	57167	HP:0000505	Visual impairment
OMIM:607323	SALL4	57167	HP:0008678	Renal hypoplasia/aplasia
OMIM:607323	SALL4	57167	HP:0005792	Short humerus
OMIM:607323	SALL4	57167	HP:0000085	Horseshoe kidney
OMIM:607323	SALL4	57167	HP:0002025	Anal stenosis
OMIM:607323	SALL4	57167	HP:0004712	Renal malrotation
OMIM:607323	SALL4	57167	HP:0001159	Syndactyly
OMIM:607323	SALL4	57167	HP:0009016	Upper limb muscle hypoplasia
OMIM:607323	SALL4	57167	HP:0000648	Optic atrophy
OMIM:607323	SALL4	57167	HP:0000486	Strabismus
OMIM:607323	SALL4	57167	HP:0001245	Small thenar eminence
OMIM:607323	SALL4	57167	HP:0002650	Scoliosis
OMIM:607323	SALL4	57167	HP:0006101	Finger syndactyly
OMIM:309510	ARX	170302	HP:0001250	Seizures
OMIM:309510	ARX	170302	HP:0002353	EEG abnormality
OMIM:309510	ARX	170302	HP:0000750	Delayed speech and language development
OMIM:309510	ARX	170302	HP:0000325	Triangular face
OMIM:309510	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:309510	ARX	170302	HP:0002061	Lower limb spasticity
OMIM:309510	ARX	170302	HP:0004373	Focal dystonia
OMIM:309510	ARX	170302	HP:0001371	Flexion contracture
OMIM:309510	ARX	170302	HP:0002451	Limb dystonia
OMIM:309510	ARX	170302	HP:0001260	Dysarthria
OMIM:309510	ARX	170302	HP:0001249	Intellectual disability
OMIM:216330	RUNX2	860	HP:0003510	Severe short stature
OMIM:216330	RUNX2	860	HP:0000248	Brachycephaly
OMIM:218700	SLC26A4	5172	HP:0001662	Bradycardia
OMIM:218700	SLC26A4	5172	HP:0002750	Delayed skeletal maturation
OMIM:218700	SLC26A4	5172	HP:0001510	Growth delay
OMIM:218700	SLC26A4	5172	HP:0001254	Lethargy
OMIM:218700	SLC26A4	5172	HP:0000157	Abnormality of the tongue
OMIM:218700	SLC26A4	5172	HP:0001537	Umbilical hernia
OMIM:218700	SLC26A4	5172	HP:0008872	Feeding difficulties in infancy
OMIM:218700	SLC26A4	5172	HP:0000958	Dry skin
OMIM:218700	SLC26A4	5172	HP:0000158	Macroglossia
OMIM:218700	SLC26A4	5172	HP:0001252	Muscular hypotonia
OMIM:218700	SLC26A4	5172	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:218700	SLC26A4	5172	HP:0002019	Constipation
OMIM:218700	SLC26A4	5172	HP:0000280	Coarse facial features
OMIM:218700	SLC26A4	5172	HP:0000820	Abnormality of the thyroid gland
OMIM:218700	SLC26A4	5172	HP:0001392	Abnormality of the liver
OMIM:218700	SLC26A4	5172	HP:0003270	Abdominal distention
OMIM:218700	SLC26A4	5172	HP:0002360	Sleep disturbance
OMIM:218700	SLC26A4	5172	HP:0002904	Hyperbilirubinemia
OMIM:218700	SLC26A4	5172	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:218700	SLC26A4	5172	HP:0000853	Goiter
OMIM:218700	TSHR	7253	HP:0001662	Bradycardia
OMIM:218700	TSHR	7253	HP:0002750	Delayed skeletal maturation
OMIM:218700	TSHR	7253	HP:0001510	Growth delay
OMIM:218700	TSHR	7253	HP:0001254	Lethargy
OMIM:218700	TSHR	7253	HP:0000157	Abnormality of the tongue
OMIM:218700	TSHR	7253	HP:0001537	Umbilical hernia
OMIM:218700	TSHR	7253	HP:0008872	Feeding difficulties in infancy
OMIM:218700	TSHR	7253	HP:0000958	Dry skin
OMIM:218700	TSHR	7253	HP:0000158	Macroglossia
OMIM:218700	TSHR	7253	HP:0001252	Muscular hypotonia
OMIM:218700	TSHR	7253	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:218700	TSHR	7253	HP:0002019	Constipation
OMIM:218700	TSHR	7253	HP:0000280	Coarse facial features
OMIM:218700	TSHR	7253	HP:0000820	Abnormality of the thyroid gland
OMIM:218700	TSHR	7253	HP:0001392	Abnormality of the liver
OMIM:218700	TSHR	7253	HP:0003270	Abdominal distention
OMIM:218700	TSHR	7253	HP:0002360	Sleep disturbance
OMIM:218700	TSHR	7253	HP:0002904	Hyperbilirubinemia
OMIM:218700	TSHR	7253	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:218700	TSHR	7253	HP:0000853	Goiter
OMIM:218700	PAX8	7849	HP:0001662	Bradycardia
OMIM:218700	PAX8	7849	HP:0002750	Delayed skeletal maturation
OMIM:218700	PAX8	7849	HP:0001510	Growth delay
OMIM:218700	PAX8	7849	HP:0001254	Lethargy
OMIM:218700	PAX8	7849	HP:0000157	Abnormality of the tongue
OMIM:218700	PAX8	7849	HP:0001537	Umbilical hernia
OMIM:218700	PAX8	7849	HP:0008872	Feeding difficulties in infancy
OMIM:218700	PAX8	7849	HP:0000958	Dry skin
OMIM:218700	PAX8	7849	HP:0000158	Macroglossia
OMIM:218700	PAX8	7849	HP:0001252	Muscular hypotonia
OMIM:218700	PAX8	7849	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:218700	PAX8	7849	HP:0002019	Constipation
OMIM:218700	PAX8	7849	HP:0000280	Coarse facial features
OMIM:218700	PAX8	7849	HP:0000820	Abnormality of the thyroid gland
OMIM:218700	PAX8	7849	HP:0001392	Abnormality of the liver
OMIM:218700	PAX8	7849	HP:0003270	Abdominal distention
OMIM:218700	PAX8	7849	HP:0002360	Sleep disturbance
OMIM:218700	PAX8	7849	HP:0002904	Hyperbilirubinemia
OMIM:218700	PAX8	7849	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:218700	PAX8	7849	HP:0000853	Goiter
OMIM:218700	NKX2-5	1482	HP:0001662	Bradycardia
OMIM:218700	NKX2-5	1482	HP:0002750	Delayed skeletal maturation
OMIM:218700	NKX2-5	1482	HP:0001510	Growth delay
OMIM:218700	NKX2-5	1482	HP:0001254	Lethargy
OMIM:218700	NKX2-5	1482	HP:0000157	Abnormality of the tongue
OMIM:218700	NKX2-5	1482	HP:0001537	Umbilical hernia
OMIM:218700	NKX2-5	1482	HP:0008872	Feeding difficulties in infancy
OMIM:218700	NKX2-5	1482	HP:0000958	Dry skin
OMIM:218700	NKX2-5	1482	HP:0000158	Macroglossia
OMIM:218700	NKX2-5	1482	HP:0001252	Muscular hypotonia
OMIM:218700	NKX2-5	1482	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:218700	NKX2-5	1482	HP:0002019	Constipation
OMIM:218700	NKX2-5	1482	HP:0000280	Coarse facial features
OMIM:218700	NKX2-5	1482	HP:0000820	Abnormality of the thyroid gland
OMIM:218700	NKX2-5	1482	HP:0001392	Abnormality of the liver
OMIM:218700	NKX2-5	1482	HP:0003270	Abdominal distention
OMIM:218700	NKX2-5	1482	HP:0002360	Sleep disturbance
OMIM:218700	NKX2-5	1482	HP:0002904	Hyperbilirubinemia
OMIM:218700	NKX2-5	1482	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:218700	NKX2-5	1482	HP:0000853	Goiter
OMIM:131850	COL7A1	1294	HP:0001231	Abnormality of the fingernails
OMIM:131850	COL7A1	1294	HP:0008388	Abnormality of the toenails
OMIM:131850	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
OMIM:131850	COL7A1	1294	HP:0000989	Pruritus
OMIM:131850	COL7A1	1294	HP:0000987	Atypical scarring of skin
OMIM:131850	COL7A1	1294	HP:0000962	Hyperkeratosis
OMIM:254600	MPO	4353	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:254600	MPO	4353	HP:0002715	Abnormality of the immune system
OMIM:254600	MPO	4353	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:254600	MPO	4353	HP:0000007	Autosomal recessive inheritance
OMIM:252940	GNS	2799	HP:0000179	Thick lower lip vermilion
OMIM:252940	GNS	2799	HP:0001250	Seizures
OMIM:252940	GNS	2799	HP:0000154	Wide mouth
OMIM:252940	GNS	2799	HP:0002240	Hepatomegaly
OMIM:252940	GNS	2799	HP:0001344	Absent speech
OMIM:252940	GNS	2799	HP:0003653	Cellular metachromasia
OMIM:252940	GNS	2799	HP:0002360	Sleep disturbance
OMIM:252940	GNS	2799	HP:0000664	Synophrys
OMIM:252940	GNS	2799	HP:0002014	Diarrhea
OMIM:252940	GNS	2799	HP:0003309	Ovoid thoracolumbar vertebrae
OMIM:252940	GNS	2799	HP:0001260	Dysarthria
OMIM:252940	GNS	2799	HP:0001507	Growth abnormality
OMIM:252940	GNS	2799	HP:0000470	Short neck
OMIM:252940	GNS	2799	HP:0000900	Thickened ribs
OMIM:252940	GNS	2799	HP:0002159	Heparan sulfate excretion in urine
OMIM:252940	GNS	2799	HP:0001249	Intellectual disability
OMIM:252940	GNS	2799	HP:0002307	Drooling
OMIM:252940	GNS	2799	HP:0001387	Joint stiffness
OMIM:252940	GNS	2799	HP:0000369	Low-set ears
OMIM:252940	GNS	2799	HP:0011220	Prominent forehead
OMIM:252940	GNS	2799	HP:0001371	Flexion contracture
OMIM:252940	GNS	2799	HP:0002015	Dysphagia
OMIM:252940	GNS	2799	HP:0005280	Depressed nasal bridge
OMIM:252940	GNS	2799	HP:0000752	Hyperactivity
OMIM:252940	GNS	2799	HP:0002208	Coarse hair
OMIM:252940	GNS	2799	HP:0000007	Autosomal recessive inheritance
OMIM:252940	GNS	2799	HP:0001007	Hirsutism
OMIM:252940	GNS	2799	HP:0000943	Dysostosis multiplex
OMIM:252940	GNS	2799	HP:0000574	Thick eyebrow
OMIM:252940	GNS	2799	HP:0001744	Splenomegaly
OMIM:252940	GNS	2799	HP:0000280	Coarse facial features
OMIM:252940	GNS	2799	HP:0000365	Hearing impairment
OMIM:252940	GNS	2799	HP:0000463	Anteverted nares
OMIM:252940	GNS	2799	HP:0002007	Frontal bossing
OMIM:252940	GNS	2799	HP:0001670	Asymmetric septal hypertrophy
OMIM:252940	GNS	2799	HP:0003676	Progressive
OMIM:252940	GNS	2799	HP:0002788	Recurrent upper respiratory tract infections
OMIM:601338	ATP1A3	478	HP:0000648	Optic atrophy
OMIM:601338	ATP1A3	478	HP:0000639	Nystagmus
OMIM:601338	ATP1A3	478	HP:0001332	Dystonia
OMIM:601338	ATP1A3	478	HP:0001315	Reduced tendon reflexes
OMIM:601338	ATP1A3	478	HP:0001260	Dysarthria
OMIM:601338	ATP1A3	478	HP:0000618	Blindness
OMIM:601338	ATP1A3	478	HP:0000512	Abnormal electroretinogram
OMIM:601338	ATP1A3	478	HP:0002131	Episodic ataxia
OMIM:601338	ATP1A3	478	HP:0001284	Areflexia
OMIM:601338	ATP1A3	478	HP:0002311	Incoordination
OMIM:601338	ATP1A3	478	HP:0000407	Sensorineural hearing impairment
OMIM:601338	ATP1A3	478	HP:0001324	Muscle weakness
OMIM:601338	ATP1A3	478	HP:0000408	Progressive sensorineural hearing impairment
OMIM:601338	ATP1A3	478	HP:0002066	Gait ataxia
OMIM:601338	ATP1A3	478	HP:0002078	Truncal ataxia
OMIM:601338	ATP1A3	478	HP:0000572	Visual loss
OMIM:601338	ATP1A3	478	HP:0001761	Pes cavus
OMIM:601338	ATP1A3	478	HP:0003198	Myopathy
OMIM:601338	ATP1A3	478	HP:0001310	Dysmetria
OMIM:601338	ATP1A3	478	HP:0000508	Ptosis
OMIM:601338	ATP1A3	478	HP:0000597	Ophthalmoparesis
ORPHANET:510	HPRT1	3251	HP:0000790	Hematuria
ORPHANET:510	HPRT1	3251	HP:0002149	Hyperuricemia
ORPHANET:510	HPRT1	3251	HP:0100022	Abnormality of movement
ORPHANET:510	HPRT1	3251	HP:0000083	Renal insufficiency
ORPHANET:510	HPRT1	3251	HP:0000708	Behavioral abnormality
ORPHANET:510	HPRT1	3251	HP:0001276	Hypertonia
ORPHANET:510	HPRT1	3251	HP:0100543	Cognitive impairment
ORPHANET:510	HPRT1	3251	HP:0001369	Arthritis
ORPHANET:510	HPRT1	3251	HP:0001903	Anemia
ORPHANET:510	HPRT1	3251	HP:0004374	Hemiplegia/hemiparesis
OMIM:106600	IRF6	3664	HP:0000006	Autosomal dominant inheritance
OMIM:106600	IRF6	3664	HP:0000668	Hypodontia
OMIM:106600	EDARADD	128178	HP:0000006	Autosomal dominant inheritance
OMIM:106600	EDARADD	128178	HP:0000668	Hypodontia
OMIM:106600	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:106600	FGFR1	2260	HP:0000668	Hypodontia
OMIM:106600	LTBP3	4054	HP:0000006	Autosomal dominant inheritance
OMIM:106600	LTBP3	4054	HP:0000668	Hypodontia
OMIM:106600	MSX1	4487	HP:0000006	Autosomal dominant inheritance
OMIM:106600	MSX1	4487	HP:0000668	Hypodontia
OMIM:106600	WNT10A	80326	HP:0000006	Autosomal dominant inheritance
OMIM:106600	WNT10A	80326	HP:0000668	Hypodontia
OMIM:106600	EDA	1896	HP:0000006	Autosomal dominant inheritance
OMIM:106600	EDA	1896	HP:0000668	Hypodontia
OMIM:106600	LRP6	4040	HP:0000006	Autosomal dominant inheritance
OMIM:106600	LRP6	4040	HP:0000668	Hypodontia
OMIM:106600	AXIN2	8313	HP:0000006	Autosomal dominant inheritance
OMIM:106600	AXIN2	8313	HP:0000668	Hypodontia
OMIM:106600	PAX9	5083	HP:0000006	Autosomal dominant inheritance
OMIM:106600	PAX9	5083	HP:0000668	Hypodontia
OMIM:106600	TGFA	7039	HP:0000006	Autosomal dominant inheritance
OMIM:106600	TGFA	7039	HP:0000668	Hypodontia
OMIM:139210	SMAD4	4089	HP:0100627	Displacement of the external urethral meatus
OMIM:139210	SMAD4	4089	HP:0001671	Abnormality of the cardiac septa
OMIM:139210	SMAD4	4089	HP:0002878	Respiratory failure
OMIM:139210	SMAD4	4089	HP:0004691	2-3 toe syndactyly
OMIM:139210	SMAD4	4089	HP:0000822	Hypertension
OMIM:139210	SMAD4	4089	HP:0010579	Cone-shaped epiphysis
OMIM:139210	SMAD4	4089	HP:0002948	Vertebral fusion
OMIM:139210	SMAD4	4089	HP:0009381	Short finger
OMIM:139210	SMAD4	4089	HP:0000322	Short philtrum
OMIM:139210	SMAD4	4089	HP:0000708	Behavioral abnormality
OMIM:139210	SMAD4	4089	HP:0000826	Precocious puberty
OMIM:139210	SMAD4	4089	HP:0000303	Mandibular prognathia
OMIM:139210	SMAD4	4089	HP:0000944	Abnormality of the metaphyses
OMIM:139210	SMAD4	4089	HP:0011800	Hypoplasia of midface
OMIM:139210	SMAD4	4089	HP:0000772	Abnormality of the ribs
OMIM:139210	SMAD4	4089	HP:0012385	Camptodactyly
OMIM:139210	SMAD4	4089	HP:0001513	Obesity
OMIM:139210	SMAD4	4089	HP:0003712	Skeletal muscle hypertrophy
OMIM:139210	SMAD4	4089	HP:0001376	Limitation of joint mobility
OMIM:139210	SMAD4	4089	HP:0004493	Craniofacial hyperostosis
OMIM:139210	SMAD4	4089	HP:0000233	Thin vermilion border
OMIM:139210	SMAD4	4089	HP:0001251	Ataxia
OMIM:139210	SMAD4	4089	HP:0004299	Hernia of the abdominal wall
OMIM:139210	SMAD4	4089	HP:0000518	Cataract
OMIM:139210	SMAD4	4089	HP:0009466	Radial deviation of finger
OMIM:139210	SMAD4	4089	HP:0000365	Hearing impairment
OMIM:139210	SMAD4	4089	HP:0000369	Low-set ears
OMIM:139210	SMAD4	4089	HP:0000219	Thin upper lip vermilion
OMIM:139210	SMAD4	4089	HP:0001249	Intellectual disability
OMIM:139210	SMAD4	4089	HP:0000581	Blepharophimosis
OMIM:139210	SMAD4	4089	HP:0000272	Malar flattening
OMIM:139210	SMAD4	4089	HP:0000160	Narrow mouth
OMIM:139210	SMAD4	4089	HP:0000540	Hypermetropia
OMIM:139210	SMAD4	4089	HP:0001156	Brachydactyly syndrome
OMIM:139210	SMAD4	4089	HP:0001511	Intrauterine growth retardation
OMIM:139210	SMAD4	4089	HP:0003457	EMG abnormality
OMIM:139210	SMAD4	4089	HP:0000028	Cryptorchidism
OMIM:139210	SMAD4	4089	HP:0001250	Seizures
OMIM:139210	SMAD4	4089	HP:0001680	Coarctation of aorta
OMIM:139210	SMAD4	4089	HP:0000574	Thick eyebrow
OMIM:139210	SMAD4	4089	HP:0000717	Autism
OMIM:139210	SMAD4	4089	HP:0000568	Microphthalmia
OMIM:139210	SMAD4	4089	HP:0100335	Non-midline cleft lip
OMIM:139210	SMAD4	4089	HP:0000252	Microcephaly
OMIM:139210	SMAD4	4089	HP:0100543	Cognitive impairment
OMIM:139210	SMAD4	4089	HP:0000175	Cleft palate
OMIM:139210	SMAD4	4089	HP:0008070	Sparse hair
OMIM:139210	SMAD4	4089	HP:0002213	Fine hair
OMIM:139210	SMAD4	4089	HP:0001845	Overlapping toe
OMIM:139210	SMAD4	4089	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:139210	SMAD4	4089	HP:0030084	Clinodactyly
OMIM:139210	SMAD4	4089	HP:0000508	Ptosis
OMIM:139210	SMAD4	4089	HP:0000202	Oral cleft
OMIM:139210	SMAD4	4089	HP:0000316	Hypertelorism
OMIM:139210	SMAD4	4089	HP:0001650	Aortic valve stenosis
OMIM:139210	SMAD4	4089	HP:0000926	Platyspondyly
OMIM:139210	SMAD4	4089	HP:0002684	Thickened calvaria
OMIM:139210	SMAD4	4089	HP:0001608	Abnormality of the voice
OMIM:139210	SMAD4	4089	HP:0000470	Short neck
OMIM:139210	SMAD4	4089	HP:0004322	Short stature
OMIM:139210	SMAD4	4089	HP:0002093	Respiratory insufficiency
OMIM:139210	SMAD4	4089	HP:0001831	Short toe
OMIM:139210	SMAD4	4089	HP:0000490	Deeply set eye
OMIM:139210	SMAD4	4089	HP:0000327	Hypoplasia of the maxilla
OMIM:139210	SMAD4	4089	HP:0003026	Short long bone
OMIM:139210	SMAD4	4089	HP:0000486	Strabismus
OMIM:139210	SMAD4	4089	HP:0000426	Prominent nasal bridge
OMIM:139210	SMAD4	4089	HP:0001072	Thickened skin
OMIM:139210	SMAD4	4089	HP:0008551	Microtia
OMIM:139210	SMAD4	4089	HP:0001643	Patent ductus arteriosus
OMIM:139210	SMAD4	4089	HP:0000006	Autosomal dominant inheritance
ORPHANET:241	ABCB6	10058	HP:0000957	Cafe-au-lait spot
ORPHANET:241	ABCB6	10058	HP:0004322	Short stature
ORPHANET:241	ABCB6	10058	HP:0001034	Hypermelanotic macule
ORPHANET:241	ABCB6	10058	HP:0001053	Hypopigmented skin patches
ORPHANET:241	ABCB6	10058	HP:0001480	Freckling
ORPHANET:241	ABCB6	10058	HP:0000365	Hearing impairment
ORPHANET:241	ABCB6	10058	HP:0000992	Cutaneous photosensitivity
OMIM:612998	LMNA	4000	HP:0011463	Childhood onset
OMIM:612998	LMNA	4000	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612998	LMNA	4000	HP:0003812	Phenotypic variability
OMIM:612998	LMNA	4000	HP:0000467	Neck muscle weakness
OMIM:612998	LMNA	4000	HP:0005144	Left ventricular septal hypertrophy
OMIM:612998	LMNA	4000	HP:0003701	Proximal muscle weakness
OMIM:612998	LMNA	4000	HP:0007126	Proximal amyotrophy
OMIM:612998	LMNA	4000	HP:0003560	Muscular dystrophy
OMIM:612998	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:612998	SYNE1	23345	HP:0011463	Childhood onset
OMIM:612998	SYNE1	23345	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612998	SYNE1	23345	HP:0003812	Phenotypic variability
OMIM:612998	SYNE1	23345	HP:0000467	Neck muscle weakness
OMIM:612998	SYNE1	23345	HP:0005144	Left ventricular septal hypertrophy
OMIM:612998	SYNE1	23345	HP:0003701	Proximal muscle weakness
OMIM:612998	SYNE1	23345	HP:0007126	Proximal amyotrophy
OMIM:612998	SYNE1	23345	HP:0003560	Muscular dystrophy
OMIM:612998	SYNE1	23345	HP:0000006	Autosomal dominant inheritance
OMIM:612998	TMEM43	79188	HP:0011463	Childhood onset
OMIM:612998	TMEM43	79188	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612998	TMEM43	79188	HP:0003812	Phenotypic variability
OMIM:612998	TMEM43	79188	HP:0000467	Neck muscle weakness
OMIM:612998	TMEM43	79188	HP:0005144	Left ventricular septal hypertrophy
OMIM:612998	TMEM43	79188	HP:0003701	Proximal muscle weakness
OMIM:612998	TMEM43	79188	HP:0007126	Proximal amyotrophy
OMIM:612998	TMEM43	79188	HP:0003560	Muscular dystrophy
OMIM:612998	TMEM43	79188	HP:0000006	Autosomal dominant inheritance
OMIM:612998	SYNE2	23224	HP:0011463	Childhood onset
OMIM:612998	SYNE2	23224	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612998	SYNE2	23224	HP:0003812	Phenotypic variability
OMIM:612998	SYNE2	23224	HP:0000467	Neck muscle weakness
OMIM:612998	SYNE2	23224	HP:0005144	Left ventricular septal hypertrophy
OMIM:612998	SYNE2	23224	HP:0003701	Proximal muscle weakness
OMIM:612998	SYNE2	23224	HP:0007126	Proximal amyotrophy
OMIM:612998	SYNE2	23224	HP:0003560	Muscular dystrophy
OMIM:612998	SYNE2	23224	HP:0000006	Autosomal dominant inheritance
OMIM:270400	DHCR7	1717	HP:0000048	Bifid scrotum
OMIM:270400	DHCR7	1717	HP:0001845	Overlapping toe
OMIM:270400	DHCR7	1717	HP:0000518	Cataract
OMIM:270400	DHCR7	1717	HP:0000717	Autism
OMIM:270400	DHCR7	1717	HP:0000347	Micrognathia
OMIM:270400	DHCR7	1717	HP:0000486	Strabismus
OMIM:270400	DHCR7	1717	HP:0000171	Microglossia
OMIM:270400	DHCR7	1717	HP:0002020	Gastroesophageal reflux
OMIM:270400	DHCR7	1717	HP:0001631	Atria septal defect
OMIM:270400	DHCR7	1717	HP:0007165	Periventricular gray matter heterotopia
OMIM:270400	DHCR7	1717	HP:0001250	Seizures
OMIM:270400	DHCR7	1717	HP:0002019	Constipation
OMIM:270400	DHCR7	1717	HP:0000175	Cleft palate
OMIM:270400	DHCR7	1717	HP:0001156	Brachydactyly syndrome
OMIM:270400	DHCR7	1717	HP:0001508	Failure to thrive
OMIM:270400	DHCR7	1717	HP:0000062	Ambiguous genitalia
OMIM:270400	DHCR7	1717	HP:0001743	Abnormality of the spleen
OMIM:270400	DHCR7	1717	HP:0001290	Generalized hypotonia
OMIM:270400	DHCR7	1717	HP:0003119	Abnormality of lipid metabolism
OMIM:270400	DHCR7	1717	HP:0000028	Cryptorchidism
OMIM:270400	DHCR7	1717	HP:0002777	Tracheal stenosis
OMIM:270400	DHCR7	1717	HP:0001831	Short toe
OMIM:270400	DHCR7	1717	HP:0002021	Pyloric stenosis
OMIM:270400	DHCR7	1717	HP:0000647	Sclerocornea
OMIM:270400	DHCR7	1717	HP:0002079	Hypoplasia of the corpus callosum
OMIM:270400	DHCR7	1717	HP:0000612	Iris coloboma
OMIM:270400	DHCR7	1717	HP:0000089	Renal hypoplasia
OMIM:270400	DHCR7	1717	HP:0001840	Metatarsus adductus
OMIM:270400	DHCR7	1717	HP:0004691	2-3 toe syndactyly
OMIM:270400	DHCR7	1717	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:270400	DHCR7	1717	HP:0002033	Poor suck
OMIM:270400	DHCR7	1717	HP:0000752	Hyperactivity
OMIM:270400	DHCR7	1717	HP:0009623	Proximal placement of thumb
OMIM:270400	DHCR7	1717	HP:0009804	Reduced number of teeth
OMIM:270400	DHCR7	1717	HP:0007018	Attention deficit hyperactivity disorder
OMIM:270400	DHCR7	1717	HP:0000046	Scrotal hypoplasia
OMIM:270400	DHCR7	1717	HP:0001276	Hypertonia
OMIM:270400	DHCR7	1717	HP:0002251	Aganglionic megacolon
OMIM:270400	DHCR7	1717	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:270400	DHCR7	1717	HP:0000252	Microcephaly
OMIM:270400	DHCR7	1717	HP:0000494	Downslanted palpebral fissures
OMIM:270400	DHCR7	1717	HP:0002808	Kyphosis
OMIM:270400	DHCR7	1717	HP:0004404	Abnormality of the nipple
OMIM:270400	DHCR7	1717	HP:0002013	Vomiting
OMIM:270400	DHCR7	1717	HP:0004322	Short stature
OMIM:270400	DHCR7	1717	HP:0002119	Ventriculomegaly
OMIM:270400	DHCR7	1717	HP:0001674	Complete atrioventricular canal defect
OMIM:270400	DHCR7	1717	HP:0002983	Micromelia
OMIM:270400	DHCR7	1717	HP:0001561	Polyhydramnios
OMIM:270400	DHCR7	1717	HP:0000742	Self-mutilation
OMIM:270400	DHCR7	1717	HP:0000813	Bicornuate uterus
OMIM:270400	DHCR7	1717	HP:0001305	Dandy-Walker malformation
OMIM:270400	DHCR7	1717	HP:0000358	Posteriorly rotated ears
OMIM:270400	DHCR7	1717	HP:0000407	Sensorineural hearing impairment
OMIM:270400	DHCR7	1717	HP:0001765	Hammertoe
OMIM:270400	DHCR7	1717	HP:0009778	Short thumb
OMIM:270400	DHCR7	1717	HP:0000286	Epicanthus
OMIM:270400	DHCR7	1717	HP:0000107	Renal cyst
OMIM:270400	DHCR7	1717	HP:0002650	Scoliosis
OMIM:270400	DHCR7	1717	HP:0003272	Abnormality of the hip bone
OMIM:270400	DHCR7	1717	HP:0000648	Optic atrophy
OMIM:270400	DHCR7	1717	HP:0006288	Advanced eruption of teeth
OMIM:270400	DHCR7	1717	HP:0030043	Hip Subluxation
OMIM:270400	DHCR7	1717	HP:0007477	Abnormal dermatoglyphics
OMIM:270400	DHCR7	1717	HP:0008736	Hypoplasia of penis
OMIM:270400	DHCR7	1717	HP:0000639	Nystagmus
OMIM:270400	DHCR7	1717	HP:0001360	Holoprosencephaly
OMIM:270400	DHCR7	1717	HP:0001511	Intrauterine growth retardation
OMIM:270400	DHCR7	1717	HP:0001622	Premature birth
OMIM:270400	DHCR7	1717	HP:0000341	Narrow forehead
OMIM:270400	DHCR7	1717	HP:0001171	Split hand
OMIM:270400	DHCR7	1717	HP:0000343	Long philtrum
OMIM:270400	DHCR7	1717	HP:0000776	Congenital diaphragmatic hernia
OMIM:270400	DHCR7	1717	HP:0000154	Wide mouth
OMIM:270400	DHCR7	1717	HP:0005280	Depressed nasal bridge
OMIM:270400	DHCR7	1717	HP:0000499	Abnormality of the eyelashes
OMIM:270400	DHCR7	1717	HP:0000964	Eczema
OMIM:270400	DHCR7	1717	HP:0000369	Low-set ears
OMIM:270400	DHCR7	1717	HP:0000470	Short neck
OMIM:270400	DHCR7	1717	HP:0001883	Talipes
OMIM:270400	DHCR7	1717	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:270400	DHCR7	1717	HP:0001629	Ventricular septal defect
OMIM:270400	DHCR7	1717	HP:0001643	Patent ductus arteriosus
OMIM:270400	DHCR7	1717	HP:0008678	Renal hypoplasia/aplasia
OMIM:270400	DHCR7	1717	HP:0001162	Postaxial hand polydactyly
OMIM:270400	DHCR7	1717	HP:0000431	Wide nasal bridge
OMIM:270400	DHCR7	1717	HP:0000007	Autosomal recessive inheritance
OMIM:270400	DHCR7	1717	HP:0000316	Hypertelorism
OMIM:270400	DHCR7	1717	HP:0009465	Ulnar deviation of finger
OMIM:270400	DHCR7	1717	HP:0002566	Intestinal malrotation
OMIM:270400	DHCR7	1717	HP:0000047	Hypospadias
OMIM:270400	DHCR7	1717	HP:0006101	Finger syndactyly
OMIM:270400	DHCR7	1717	HP:0000826	Precocious puberty
OMIM:270400	DHCR7	1717	HP:0000212	Gingival overgrowth
OMIM:270400	DHCR7	1717	HP:0000520	Proptosis
OMIM:270400	DHCR7	1717	HP:0000463	Anteverted nares
OMIM:270400	DHCR7	1717	HP:0002101	Abnormal lung lobation
OMIM:270400	DHCR7	1717	HP:0000678	Dental crowding
OMIM:270400	DHCR7	1717	HP:0003146	Hypocholesterolemia
OMIM:270400	DHCR7	1717	HP:0000501	Glaucoma
OMIM:270400	DHCR7	1717	HP:0001558	Decreased fetal movement
OMIM:270400	DHCR7	1717	HP:0002579	Gastrointestinal dysmotility
OMIM:270400	DHCR7	1717	HP:0100542	Abnormal localization of kidney
OMIM:270400	DHCR7	1717	HP:0010655	Epiphyseal stippling
OMIM:270400	DHCR7	1717	HP:0001600	Abnormality of the larynx
OMIM:270400	DHCR7	1717	HP:0010978	Abnormality of immune system physiology
OMIM:270400	DHCR7	1717	HP:0000582	Upslanted palpebral fissure
OMIM:270400	DHCR7	1717	HP:0000772	Abnormality of the ribs
OMIM:270400	DHCR7	1717	HP:0100716	Self-injurious behavior
OMIM:270400	DHCR7	1717	HP:0002827	Hip dislocation
OMIM:270400	DHCR7	1717	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:270400	DHCR7	1717	HP:0000238	Hydrocephalus
OMIM:270400	DHCR7	1717	HP:0000104	Renal agenesis
OMIM:270400	DHCR7	1717	HP:0000055	Abnormality of female external genitalia
OMIM:270400	DHCR7	1717	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:270400	DHCR7	1717	HP:0000508	Ptosis
OMIM:270400	DHCR7	1717	HP:0000965	Cutis marmorata
OMIM:270400	DHCR7	1717	HP:0001680	Coarctation of aorta
OMIM:270400	DHCR7	1717	HP:0002360	Sleep disturbance
OMIM:270400	DHCR7	1717	HP:0006482	Abnormality of dental morphology
OMIM:270400	DHCR7	1717	HP:0000069	Abnormality of the ureter
OMIM:270400	DHCR7	1717	HP:0000718	Aggressive behavior
OMIM:270400	DHCR7	1717	HP:0000403	Recurrent otitis media
OMIM:270400	DHCR7	1717	HP:0001252	Muscular hypotonia
OMIM:270400	DHCR7	1717	HP:0005264	Abnormality of the gallbladder
OMIM:270400	DHCR7	1717	HP:0000054	Micropenis
OMIM:270400	DHCR7	1717	HP:0005599	Hypopigmentation of hair
OMIM:270400	DHCR7	1717	HP:0001249	Intellectual disability
OMIM:270400	DHCR7	1717	HP:0000992	Cutaneous photosensitivity
OMIM:270400	DHCR7	1717	HP:0000453	Choanal atresia
OMIM:270400	DHCR7	1717	HP:0010880	Increased nuchal translucency
OMIM:270400	DHCR7	1717	HP:0000126	Hydronephrosis
OMIM:270400	DHCR7	1717	HP:0000365	Hearing impairment
OMIM:270400	DHCR7	1717	HP:0004372	Reduced consciousness/confusion
OMIM:270400	DHCR7	1717	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:270400	DHCR7	1717	HP:0000368	Low-set, posteriorly rotated ears
OMIM:270400	DHCR7	1717	HP:0100627	Displacement of the external urethral meatus
OMIM:270400	DHCR7	1717	HP:0000682	Abnormality of dental enamel
OMIM:270400	DHCR7	1717	HP:0001770	Toe syndactyly
OMIM:270400	DHCR7	1717	HP:0002089	Pulmonary hypoplasia
OMIM:270400	DHCR7	1717	HP:0003312	Abnormal form of the vertebral bodies
OMIM:270400	DHCR7	1717	HP:0001163	Abnormality of the metacarpal bones
OMIM:270400	DHCR7	1717	HP:0000003	Multicystic kidney dysplasia
OMIM:300868	PIGA	5277	HP:0012448	Delayed myelination
OMIM:300868	PIGA	5277	HP:0002123	Generalized myoclonic seizures
OMIM:300868	PIGA	5277	HP:0000687	Widely spaced teeth
OMIM:300868	PIGA	5277	HP:0000081	Duplicated collecting system
OMIM:300868	PIGA	5277	HP:0000280	Coarse facial features
OMIM:300868	PIGA	5277	HP:0001321	Cerebellar hypoplasia
OMIM:300868	PIGA	5277	HP:0008064	Ichthyosis
OMIM:300868	PIGA	5277	HP:0008936	Muscular hypotonia of the trunk
OMIM:300868	PIGA	5277	HP:0001347	Hyperreflexia
OMIM:300868	PIGA	5277	HP:0001419	X-linked recessive inheritance
OMIM:300868	PIGA	5277	HP:0000218	High palate
OMIM:300868	PIGA	5277	HP:0200134	Epileptic encephalopathy
OMIM:300868	PIGA	5277	HP:0000207	Triangular mouth
OMIM:300868	PIGA	5277	HP:0001631	Atria septal defect
OMIM:300868	PIGA	5277	HP:0000076	Vesicoureteral reflux
OMIM:300868	PIGA	5277	HP:0000396	Overfolded helix
OMIM:300868	PIGA	5277	HP:0000272	Malar flattening
OMIM:300868	PIGA	5277	HP:0000691	Microdontia
OMIM:300868	PIGA	5277	HP:0001371	Flexion contracture
OMIM:300868	PIGA	5277	HP:0000582	Upslanted palpebral fissure
OMIM:300868	PIGA	5277	HP:0001394	Cirrhosis
OMIM:300868	PIGA	5277	HP:0000463	Anteverted nares
OMIM:300868	PIGA	5277	HP:0002714	Downturned corners of mouth
OMIM:300868	PIGA	5277	HP:0000470	Short neck
OMIM:300868	PIGA	5277	HP:0007361	Abnormality of the pons
OMIM:300868	PIGA	5277	HP:0000347	Micrognathia
OMIM:300868	PIGA	5277	HP:0002120	Cerebral cortical atrophy
OMIM:300868	PIGA	5277	HP:0000365	Hearing impairment
OMIM:300868	PIGA	5277	HP:0001522	Death in infancy
OMIM:300868	PIGA	5277	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300868	PIGA	5277	HP:0002521	Hypsarrhythmia
OMIM:300868	PIGA	5277	HP:0000212	Gingival overgrowth
OMIM:300868	PIGA	5277	HP:0001792	Small nail
OMIM:300868	PIGA	5277	HP:0000160	Narrow mouth
OMIM:300868	PIGA	5277	HP:0000256	Macrocephaly
OMIM:300868	PIGA	5277	HP:0005280	Depressed nasal bridge
OMIM:300868	PIGA	5277	HP:0000269	Prominent occiput
OMIM:300868	PIGA	5277	HP:0005484	Postnatal microcephaly
OMIM:300868	PIGA	5277	HP:0000239	Large fontanelles
OMIM:300868	PIGA	5277	HP:0100704	Cortical visual impairment
OMIM:300868	PIGA	5277	HP:0002529	Neuronal loss in central nervous system
OMIM:300868	PIGA	5277	HP:0001051	Seborrheic dermatitis
OMIM:300868	PIGA	5277	HP:0002240	Hepatomegaly
OMIM:300868	PIGA	5277	HP:0001344	Absent speech
OMIM:255110	CPT2	1376	HP:0000083	Renal insufficiency
OMIM:255110	CPT2	1376	HP:0001324	Muscle weakness
OMIM:255110	CPT2	1376	HP:0000007	Autosomal recessive inheritance
OMIM:255110	CPT2	1376	HP:0002913	Myoglobinuria
OMIM:255110	CPT2	1376	HP:0003326	Myalgia
OMIM:255110	CPT2	1376	HP:0003201	Rhabdomyolysis
OMIM:255110	CPT2	1376	HP:0003198	Myopathy
OMIM:255110	CPT2	1376	HP:0003394	Muscle cramps
OMIM:613494	CD19	930	HP:0002721	Immunodeficiency
OMIM:613494	CD19	930	HP:0003812	Phenotypic variability
OMIM:613494	CD19	930	HP:0011108	Recurrent sinusitis
OMIM:613494	CD19	930	HP:0002718	Recurrent bacterial infections
OMIM:613494	CD19	930	HP:0003581	Adult onset
OMIM:613494	CD19	930	HP:0004315	IgG deficiency
OMIM:613494	CD19	930	HP:0000007	Autosomal recessive inheritance
OMIM:613494	CD19	930	HP:0006532	Recurrent pneumonia
OMIM:613494	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:613494	TNFRSF13C	115650	HP:0003812	Phenotypic variability
OMIM:613494	TNFRSF13C	115650	HP:0011108	Recurrent sinusitis
OMIM:613494	TNFRSF13C	115650	HP:0002718	Recurrent bacterial infections
OMIM:613494	TNFRSF13C	115650	HP:0003581	Adult onset
OMIM:613494	TNFRSF13C	115650	HP:0004315	IgG deficiency
OMIM:613494	TNFRSF13C	115650	HP:0000007	Autosomal recessive inheritance
OMIM:613494	TNFRSF13C	115650	HP:0006532	Recurrent pneumonia
OMIM:613494	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:613494	MS4A1	931	HP:0003812	Phenotypic variability
OMIM:613494	MS4A1	931	HP:0011108	Recurrent sinusitis
OMIM:613494	MS4A1	931	HP:0002718	Recurrent bacterial infections
OMIM:613494	MS4A1	931	HP:0003581	Adult onset
OMIM:613494	MS4A1	931	HP:0004315	IgG deficiency
OMIM:613494	MS4A1	931	HP:0000007	Autosomal recessive inheritance
OMIM:613494	MS4A1	931	HP:0006532	Recurrent pneumonia
OMIM:613494	CR2	1380	HP:0002721	Immunodeficiency
OMIM:613494	CR2	1380	HP:0003812	Phenotypic variability
OMIM:613494	CR2	1380	HP:0011108	Recurrent sinusitis
OMIM:613494	CR2	1380	HP:0002718	Recurrent bacterial infections
OMIM:613494	CR2	1380	HP:0003581	Adult onset
OMIM:613494	CR2	1380	HP:0004315	IgG deficiency
OMIM:613494	CR2	1380	HP:0000007	Autosomal recessive inheritance
OMIM:613494	CR2	1380	HP:0006532	Recurrent pneumonia
OMIM:613494	TNFSF12	8742	HP:0002721	Immunodeficiency
OMIM:613494	TNFSF12	8742	HP:0003812	Phenotypic variability
OMIM:613494	TNFSF12	8742	HP:0011108	Recurrent sinusitis
OMIM:613494	TNFSF12	8742	HP:0002718	Recurrent bacterial infections
OMIM:613494	TNFSF12	8742	HP:0003581	Adult onset
OMIM:613494	TNFSF12	8742	HP:0004315	IgG deficiency
OMIM:613494	TNFSF12	8742	HP:0000007	Autosomal recessive inheritance
OMIM:613494	TNFSF12	8742	HP:0006532	Recurrent pneumonia
OMIM:613494	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:613494	NFKB1	4790	HP:0003812	Phenotypic variability
OMIM:613494	NFKB1	4790	HP:0011108	Recurrent sinusitis
OMIM:613494	NFKB1	4790	HP:0002718	Recurrent bacterial infections
OMIM:613494	NFKB1	4790	HP:0003581	Adult onset
OMIM:613494	NFKB1	4790	HP:0004315	IgG deficiency
OMIM:613494	NFKB1	4790	HP:0000007	Autosomal recessive inheritance
OMIM:613494	NFKB1	4790	HP:0006532	Recurrent pneumonia
OMIM:613494	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:613494	TNFRSF13B	23495	HP:0003812	Phenotypic variability
OMIM:613494	TNFRSF13B	23495	HP:0011108	Recurrent sinusitis
OMIM:613494	TNFRSF13B	23495	HP:0002718	Recurrent bacterial infections
OMIM:613494	TNFRSF13B	23495	HP:0003581	Adult onset
OMIM:613494	TNFRSF13B	23495	HP:0004315	IgG deficiency
OMIM:613494	TNFRSF13B	23495	HP:0000007	Autosomal recessive inheritance
OMIM:613494	TNFRSF13B	23495	HP:0006532	Recurrent pneumonia
OMIM:613494	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:613494	NFKB2	4791	HP:0003812	Phenotypic variability
OMIM:613494	NFKB2	4791	HP:0011108	Recurrent sinusitis
OMIM:613494	NFKB2	4791	HP:0002718	Recurrent bacterial infections
OMIM:613494	NFKB2	4791	HP:0003581	Adult onset
OMIM:613494	NFKB2	4791	HP:0004315	IgG deficiency
OMIM:613494	NFKB2	4791	HP:0000007	Autosomal recessive inheritance
OMIM:613494	NFKB2	4791	HP:0006532	Recurrent pneumonia
OMIM:613494	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:613494	ICOS	29851	HP:0003812	Phenotypic variability
OMIM:613494	ICOS	29851	HP:0011108	Recurrent sinusitis
OMIM:613494	ICOS	29851	HP:0002718	Recurrent bacterial infections
OMIM:613494	ICOS	29851	HP:0003581	Adult onset
OMIM:613494	ICOS	29851	HP:0004315	IgG deficiency
OMIM:613494	ICOS	29851	HP:0000007	Autosomal recessive inheritance
OMIM:613494	ICOS	29851	HP:0006532	Recurrent pneumonia
OMIM:613494	LRBA	987	HP:0002721	Immunodeficiency
OMIM:613494	LRBA	987	HP:0003812	Phenotypic variability
OMIM:613494	LRBA	987	HP:0011108	Recurrent sinusitis
OMIM:613494	LRBA	987	HP:0002718	Recurrent bacterial infections
OMIM:613494	LRBA	987	HP:0003581	Adult onset
OMIM:613494	LRBA	987	HP:0004315	IgG deficiency
OMIM:613494	LRBA	987	HP:0000007	Autosomal recessive inheritance
OMIM:613494	LRBA	987	HP:0006532	Recurrent pneumonia
OMIM:613494	PRKCD	5580	HP:0002721	Immunodeficiency
OMIM:613494	PRKCD	5580	HP:0003812	Phenotypic variability
OMIM:613494	PRKCD	5580	HP:0011108	Recurrent sinusitis
OMIM:613494	PRKCD	5580	HP:0002718	Recurrent bacterial infections
OMIM:613494	PRKCD	5580	HP:0003581	Adult onset
OMIM:613494	PRKCD	5580	HP:0004315	IgG deficiency
OMIM:613494	PRKCD	5580	HP:0000007	Autosomal recessive inheritance
OMIM:613494	PRKCD	5580	HP:0006532	Recurrent pneumonia
OMIM:613494	CD81	975	HP:0002721	Immunodeficiency
OMIM:613494	CD81	975	HP:0003812	Phenotypic variability
OMIM:613494	CD81	975	HP:0011108	Recurrent sinusitis
OMIM:613494	CD81	975	HP:0002718	Recurrent bacterial infections
OMIM:613494	CD81	975	HP:0003581	Adult onset
OMIM:613494	CD81	975	HP:0004315	IgG deficiency
OMIM:613494	CD81	975	HP:0000007	Autosomal recessive inheritance
OMIM:613494	CD81	975	HP:0006532	Recurrent pneumonia
OMIM:615996	MKKS	8195	HP:0010442	Polydactyly
OMIM:615996	MKKS	8195	HP:0000135	Hypogonadism
OMIM:615996	MKKS	8195	HP:0001249	Intellectual disability
OMIM:615996	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615996	MKKS	8195	HP:0000083	Renal insufficiency
OMIM:615996	MKKS	8195	HP:0003241	External genital hypoplasia
OMIM:615996	MKKS	8195	HP:0001513	Obesity
OMIM:615996	MKKS	8195	HP:0004409	Hyposmia
OMIM:615996	NPHP1	4867	HP:0010442	Polydactyly
OMIM:615996	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:615996	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:615996	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615996	NPHP1	4867	HP:0000083	Renal insufficiency
OMIM:615996	NPHP1	4867	HP:0003241	External genital hypoplasia
OMIM:615996	NPHP1	4867	HP:0001513	Obesity
OMIM:615996	NPHP1	4867	HP:0004409	Hyposmia
OMIM:615996	BBIP1	92482	HP:0010442	Polydactyly
OMIM:615996	BBIP1	92482	HP:0000135	Hypogonadism
OMIM:615996	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:615996	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615996	BBIP1	92482	HP:0000083	Renal insufficiency
OMIM:615996	BBIP1	92482	HP:0003241	External genital hypoplasia
OMIM:615996	BBIP1	92482	HP:0001513	Obesity
OMIM:615996	BBIP1	92482	HP:0004409	Hyposmia
OMIM:615996	ARL6	84100	HP:0010442	Polydactyly
OMIM:615996	ARL6	84100	HP:0000135	Hypogonadism
OMIM:615996	ARL6	84100	HP:0001249	Intellectual disability
OMIM:615996	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615996	ARL6	84100	HP:0000083	Renal insufficiency
OMIM:615996	ARL6	84100	HP:0003241	External genital hypoplasia
OMIM:615996	ARL6	84100	HP:0001513	Obesity
OMIM:615996	ARL6	84100	HP:0004409	Hyposmia
OMIM:615996	BBS1	582	HP:0010442	Polydactyly
OMIM:615996	BBS1	582	HP:0000135	Hypogonadism
OMIM:615996	BBS1	582	HP:0001249	Intellectual disability
OMIM:615996	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615996	BBS1	582	HP:0000083	Renal insufficiency
OMIM:615996	BBS1	582	HP:0003241	External genital hypoplasia
OMIM:615996	BBS1	582	HP:0001513	Obesity
OMIM:615996	BBS1	582	HP:0004409	Hyposmia
OMIM:615996	BBS2	583	HP:0010442	Polydactyly
OMIM:615996	BBS2	583	HP:0000135	Hypogonadism
OMIM:615996	BBS2	583	HP:0001249	Intellectual disability
OMIM:615996	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615996	BBS2	583	HP:0000083	Renal insufficiency
OMIM:615996	BBS2	583	HP:0003241	External genital hypoplasia
OMIM:615996	BBS2	583	HP:0001513	Obesity
OMIM:615996	BBS2	583	HP:0004409	Hyposmia
OMIM:615996	BBS4	585	HP:0010442	Polydactyly
OMIM:615996	BBS4	585	HP:0000135	Hypogonadism
OMIM:615996	BBS4	585	HP:0001249	Intellectual disability
OMIM:615996	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615996	BBS4	585	HP:0000083	Renal insufficiency
OMIM:615996	BBS4	585	HP:0003241	External genital hypoplasia
OMIM:615996	BBS4	585	HP:0001513	Obesity
OMIM:615996	BBS4	585	HP:0004409	Hyposmia
OMIM:615996	BBS9	27241	HP:0010442	Polydactyly
OMIM:615996	BBS9	27241	HP:0000135	Hypogonadism
OMIM:615996	BBS9	27241	HP:0001249	Intellectual disability
OMIM:615996	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615996	BBS9	27241	HP:0000083	Renal insufficiency
OMIM:615996	BBS9	27241	HP:0003241	External genital hypoplasia
OMIM:615996	BBS9	27241	HP:0001513	Obesity
OMIM:615996	BBS9	27241	HP:0004409	Hyposmia
OMIM:615996	TTC8	123016	HP:0010442	Polydactyly
OMIM:615996	TTC8	123016	HP:0000135	Hypogonadism
OMIM:615996	TTC8	123016	HP:0001249	Intellectual disability
OMIM:615996	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615996	TTC8	123016	HP:0000083	Renal insufficiency
OMIM:615996	TTC8	123016	HP:0003241	External genital hypoplasia
OMIM:615996	TTC8	123016	HP:0001513	Obesity
OMIM:615996	TTC8	123016	HP:0004409	Hyposmia
OMIM:615996	BBS12	166379	HP:0010442	Polydactyly
OMIM:615996	BBS12	166379	HP:0000135	Hypogonadism
OMIM:615996	BBS12	166379	HP:0001249	Intellectual disability
OMIM:615996	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615996	BBS12	166379	HP:0000083	Renal insufficiency
OMIM:615996	BBS12	166379	HP:0003241	External genital hypoplasia
OMIM:615996	BBS12	166379	HP:0001513	Obesity
OMIM:615996	BBS12	166379	HP:0004409	Hyposmia
OMIM:615996	TRIM32	22954	HP:0010442	Polydactyly
OMIM:615996	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:615996	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:615996	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615996	TRIM32	22954	HP:0000083	Renal insufficiency
OMIM:615996	TRIM32	22954	HP:0003241	External genital hypoplasia
OMIM:615996	TRIM32	22954	HP:0001513	Obesity
OMIM:615996	TRIM32	22954	HP:0004409	Hyposmia
OMIM:615996	IFT27	11020	HP:0010442	Polydactyly
OMIM:615996	IFT27	11020	HP:0000135	Hypogonadism
OMIM:615996	IFT27	11020	HP:0001249	Intellectual disability
OMIM:615996	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615996	IFT27	11020	HP:0000083	Renal insufficiency
OMIM:615996	IFT27	11020	HP:0003241	External genital hypoplasia
OMIM:615996	IFT27	11020	HP:0001513	Obesity
OMIM:615996	IFT27	11020	HP:0004409	Hyposmia
OMIM:615996	BBS7	55212	HP:0010442	Polydactyly
OMIM:615996	BBS7	55212	HP:0000135	Hypogonadism
OMIM:615996	BBS7	55212	HP:0001249	Intellectual disability
OMIM:615996	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615996	BBS7	55212	HP:0000083	Renal insufficiency
OMIM:615996	BBS7	55212	HP:0003241	External genital hypoplasia
OMIM:615996	BBS7	55212	HP:0001513	Obesity
OMIM:615996	BBS7	55212	HP:0004409	Hyposmia
OMIM:615996	IFT172	26160	HP:0010442	Polydactyly
OMIM:615996	IFT172	26160	HP:0000135	Hypogonadism
OMIM:615996	IFT172	26160	HP:0001249	Intellectual disability
OMIM:615996	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615996	IFT172	26160	HP:0000083	Renal insufficiency
OMIM:615996	IFT172	26160	HP:0003241	External genital hypoplasia
OMIM:615996	IFT172	26160	HP:0001513	Obesity
OMIM:615996	IFT172	26160	HP:0004409	Hyposmia
OMIM:615996	WDPCP	51057	HP:0010442	Polydactyly
OMIM:615996	WDPCP	51057	HP:0000135	Hypogonadism
OMIM:615996	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:615996	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615996	WDPCP	51057	HP:0000083	Renal insufficiency
OMIM:615996	WDPCP	51057	HP:0003241	External genital hypoplasia
OMIM:615996	WDPCP	51057	HP:0001513	Obesity
OMIM:615996	WDPCP	51057	HP:0004409	Hyposmia
OMIM:615996	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:615996	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:615996	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:615996	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615996	SDCCAG8	10806	HP:0000083	Renal insufficiency
OMIM:615996	SDCCAG8	10806	HP:0003241	External genital hypoplasia
OMIM:615996	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615996	SDCCAG8	10806	HP:0004409	Hyposmia
OMIM:615996	MKS1	54903	HP:0010442	Polydactyly
OMIM:615996	MKS1	54903	HP:0000135	Hypogonadism
OMIM:615996	MKS1	54903	HP:0001249	Intellectual disability
OMIM:615996	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615996	MKS1	54903	HP:0000083	Renal insufficiency
OMIM:615996	MKS1	54903	HP:0003241	External genital hypoplasia
OMIM:615996	MKS1	54903	HP:0001513	Obesity
OMIM:615996	MKS1	54903	HP:0004409	Hyposmia
OMIM:615996	BBS5	129880	HP:0010442	Polydactyly
OMIM:615996	BBS5	129880	HP:0000135	Hypogonadism
OMIM:615996	BBS5	129880	HP:0001249	Intellectual disability
OMIM:615996	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615996	BBS5	129880	HP:0000083	Renal insufficiency
OMIM:615996	BBS5	129880	HP:0003241	External genital hypoplasia
OMIM:615996	BBS5	129880	HP:0001513	Obesity
OMIM:615996	BBS5	129880	HP:0004409	Hyposmia
OMIM:615996	CEP290	80184	HP:0010442	Polydactyly
OMIM:615996	CEP290	80184	HP:0000135	Hypogonadism
OMIM:615996	CEP290	80184	HP:0001249	Intellectual disability
OMIM:615996	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615996	CEP290	80184	HP:0000083	Renal insufficiency
OMIM:615996	CEP290	80184	HP:0003241	External genital hypoplasia
OMIM:615996	CEP290	80184	HP:0001513	Obesity
OMIM:615996	CEP290	80184	HP:0004409	Hyposmia
OMIM:615996	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:615996	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:615996	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:615996	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615996	LZTFL1	54585	HP:0000083	Renal insufficiency
OMIM:615996	LZTFL1	54585	HP:0003241	External genital hypoplasia
OMIM:615996	LZTFL1	54585	HP:0001513	Obesity
OMIM:615996	LZTFL1	54585	HP:0004409	Hyposmia
OMIM:615996	BBS10	79738	HP:0010442	Polydactyly
OMIM:615996	BBS10	79738	HP:0000135	Hypogonadism
OMIM:615996	BBS10	79738	HP:0001249	Intellectual disability
OMIM:615996	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615996	BBS10	79738	HP:0000083	Renal insufficiency
OMIM:615996	BBS10	79738	HP:0003241	External genital hypoplasia
OMIM:615996	BBS10	79738	HP:0001513	Obesity
OMIM:615996	BBS10	79738	HP:0004409	Hyposmia
OMIM:261670	PGAM2	5224	HP:0000007	Autosomal recessive inheritance
OMIM:261670	PGAM2	5224	HP:0003198	Myopathy
OMIM:261670	PGAM2	5224	HP:0003546	Exercise intolerance
OMIM:261670	PGAM2	5224	HP:0003201	Rhabdomyolysis
OMIM:261670	PGAM2	5224	HP:0003236	Elevated serum creatine phosphokinase
OMIM:261670	PGAM2	5224	HP:0000083	Renal insufficiency
OMIM:261670	PGAM2	5224	HP:0003710	Exercise-induced muscle cramps
OMIM:261670	PGAM2	5224	HP:0002913	Myoglobinuria
OMIM:615866	ARID1A	8289	HP:0003196	Short nose
OMIM:615866	ARID1A	8289	HP:0000322	Short philtrum
OMIM:615866	ARID1A	8289	HP:0009929	Abnormality of the columella
OMIM:615866	ARID1A	8289	HP:0000369	Low-set ears
OMIM:615866	ARID1A	8289	HP:0000998	Hypertrichosis
OMIM:615866	ARID1A	8289	HP:0001999	Abnormal facial shape
OMIM:615866	ARID1A	8289	HP:0000331	Short chin
OMIM:615866	ARID1A	8289	HP:0000252	Microcephaly
OMIM:615866	ARID1A	8289	HP:0011937	Hypoplastic fifth toenail
OMIM:615866	ARID1A	8289	HP:0012745	Short palpebral fissure
OMIM:615866	ARID1A	8289	HP:0011800	Hypoplasia of midface
OMIM:615866	ARID1A	8289	HP:0000430	Underdeveloped nasal alae
OMIM:615866	ARID1A	8289	HP:0005288	Abnormality of the nares
OMIM:615866	ARID1A	8289	HP:0003189	Long nose
OMIM:615866	ARID1A	8289	HP:0012471	Thick vermilion border
OMIM:615866	ARID1A	8289	HP:0000527	Long eyelashes
OMIM:615866	ARID1A	8289	HP:0001510	Growth delay
OMIM:615866	ARID1A	8289	HP:0000293	Full cheeks
OMIM:615866	ARID1A	8289	HP:0000006	Autosomal dominant inheritance
OMIM:615866	ARID1A	8289	HP:0000358	Posteriorly rotated ears
OMIM:615866	ARID1A	8289	HP:0009882	Short distal phalanx of finger
OMIM:615866	ARID1A	8289	HP:0000194	Open mouth
OMIM:615866	ARID1A	8289	HP:0001249	Intellectual disability
OMIM:615866	ARID1A	8289	HP:0009891	Underdeveloped supraorbital ridges
OMIM:615866	ARID1A	8289	HP:0005280	Depressed nasal bridge
OMIM:615866	ARID1A	8289	HP:0002553	Highly arched eyebrow
OMIM:615866	ARID1B	57492	HP:0003196	Short nose
OMIM:615866	ARID1B	57492	HP:0000322	Short philtrum
OMIM:615866	ARID1B	57492	HP:0009929	Abnormality of the columella
OMIM:615866	ARID1B	57492	HP:0000369	Low-set ears
OMIM:615866	ARID1B	57492	HP:0000998	Hypertrichosis
OMIM:615866	ARID1B	57492	HP:0001999	Abnormal facial shape
OMIM:615866	ARID1B	57492	HP:0000331	Short chin
OMIM:615866	ARID1B	57492	HP:0000252	Microcephaly
OMIM:615866	ARID1B	57492	HP:0011937	Hypoplastic fifth toenail
OMIM:615866	ARID1B	57492	HP:0012745	Short palpebral fissure
OMIM:615866	ARID1B	57492	HP:0011800	Hypoplasia of midface
OMIM:615866	ARID1B	57492	HP:0000430	Underdeveloped nasal alae
OMIM:615866	ARID1B	57492	HP:0005288	Abnormality of the nares
OMIM:615866	ARID1B	57492	HP:0003189	Long nose
OMIM:615866	ARID1B	57492	HP:0012471	Thick vermilion border
OMIM:615866	ARID1B	57492	HP:0000527	Long eyelashes
OMIM:615866	ARID1B	57492	HP:0001510	Growth delay
OMIM:615866	ARID1B	57492	HP:0000293	Full cheeks
OMIM:615866	ARID1B	57492	HP:0000006	Autosomal dominant inheritance
OMIM:615866	ARID1B	57492	HP:0000358	Posteriorly rotated ears
OMIM:615866	ARID1B	57492	HP:0009882	Short distal phalanx of finger
OMIM:615866	ARID1B	57492	HP:0000194	Open mouth
OMIM:615866	ARID1B	57492	HP:0001249	Intellectual disability
OMIM:615866	ARID1B	57492	HP:0009891	Underdeveloped supraorbital ridges
OMIM:615866	ARID1B	57492	HP:0005280	Depressed nasal bridge
OMIM:615866	ARID1B	57492	HP:0002553	Highly arched eyebrow
OMIM:615866	SMARCA4	6597	HP:0003196	Short nose
OMIM:615866	SMARCA4	6597	HP:0000322	Short philtrum
OMIM:615866	SMARCA4	6597	HP:0009929	Abnormality of the columella
OMIM:615866	SMARCA4	6597	HP:0000369	Low-set ears
OMIM:615866	SMARCA4	6597	HP:0000998	Hypertrichosis
OMIM:615866	SMARCA4	6597	HP:0001999	Abnormal facial shape
OMIM:615866	SMARCA4	6597	HP:0000331	Short chin
OMIM:615866	SMARCA4	6597	HP:0000252	Microcephaly
OMIM:615866	SMARCA4	6597	HP:0011937	Hypoplastic fifth toenail
OMIM:615866	SMARCA4	6597	HP:0012745	Short palpebral fissure
OMIM:615866	SMARCA4	6597	HP:0011800	Hypoplasia of midface
OMIM:615866	SMARCA4	6597	HP:0000430	Underdeveloped nasal alae
OMIM:615866	SMARCA4	6597	HP:0005288	Abnormality of the nares
OMIM:615866	SMARCA4	6597	HP:0003189	Long nose
OMIM:615866	SMARCA4	6597	HP:0012471	Thick vermilion border
OMIM:615866	SMARCA4	6597	HP:0000527	Long eyelashes
OMIM:615866	SMARCA4	6597	HP:0001510	Growth delay
OMIM:615866	SMARCA4	6597	HP:0000293	Full cheeks
OMIM:615866	SMARCA4	6597	HP:0000006	Autosomal dominant inheritance
OMIM:615866	SMARCA4	6597	HP:0000358	Posteriorly rotated ears
OMIM:615866	SMARCA4	6597	HP:0009882	Short distal phalanx of finger
OMIM:615866	SMARCA4	6597	HP:0000194	Open mouth
OMIM:615866	SMARCA4	6597	HP:0001249	Intellectual disability
OMIM:615866	SMARCA4	6597	HP:0009891	Underdeveloped supraorbital ridges
OMIM:615866	SMARCA4	6597	HP:0005280	Depressed nasal bridge
OMIM:615866	SMARCA4	6597	HP:0002553	Highly arched eyebrow
OMIM:615866	SMARCB1	6598	HP:0003196	Short nose
OMIM:615866	SMARCB1	6598	HP:0000322	Short philtrum
OMIM:615866	SMARCB1	6598	HP:0009929	Abnormality of the columella
OMIM:615866	SMARCB1	6598	HP:0000369	Low-set ears
OMIM:615866	SMARCB1	6598	HP:0000998	Hypertrichosis
OMIM:615866	SMARCB1	6598	HP:0001999	Abnormal facial shape
OMIM:615866	SMARCB1	6598	HP:0000331	Short chin
OMIM:615866	SMARCB1	6598	HP:0000252	Microcephaly
OMIM:615866	SMARCB1	6598	HP:0011937	Hypoplastic fifth toenail
OMIM:615866	SMARCB1	6598	HP:0012745	Short palpebral fissure
OMIM:615866	SMARCB1	6598	HP:0011800	Hypoplasia of midface
OMIM:615866	SMARCB1	6598	HP:0000430	Underdeveloped nasal alae
OMIM:615866	SMARCB1	6598	HP:0005288	Abnormality of the nares
OMIM:615866	SMARCB1	6598	HP:0003189	Long nose
OMIM:615866	SMARCB1	6598	HP:0012471	Thick vermilion border
OMIM:615866	SMARCB1	6598	HP:0000527	Long eyelashes
OMIM:615866	SMARCB1	6598	HP:0001510	Growth delay
OMIM:615866	SMARCB1	6598	HP:0000293	Full cheeks
OMIM:615866	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
OMIM:615866	SMARCB1	6598	HP:0000358	Posteriorly rotated ears
OMIM:615866	SMARCB1	6598	HP:0009882	Short distal phalanx of finger
OMIM:615866	SMARCB1	6598	HP:0000194	Open mouth
OMIM:615866	SMARCB1	6598	HP:0001249	Intellectual disability
OMIM:615866	SMARCB1	6598	HP:0009891	Underdeveloped supraorbital ridges
OMIM:615866	SMARCB1	6598	HP:0005280	Depressed nasal bridge
OMIM:615866	SMARCB1	6598	HP:0002553	Highly arched eyebrow
OMIM:615866	SOX11	6664	HP:0003196	Short nose
OMIM:615866	SOX11	6664	HP:0000322	Short philtrum
OMIM:615866	SOX11	6664	HP:0009929	Abnormality of the columella
OMIM:615866	SOX11	6664	HP:0000369	Low-set ears
OMIM:615866	SOX11	6664	HP:0000998	Hypertrichosis
OMIM:615866	SOX11	6664	HP:0001999	Abnormal facial shape
OMIM:615866	SOX11	6664	HP:0000331	Short chin
OMIM:615866	SOX11	6664	HP:0000252	Microcephaly
OMIM:615866	SOX11	6664	HP:0011937	Hypoplastic fifth toenail
OMIM:615866	SOX11	6664	HP:0012745	Short palpebral fissure
OMIM:615866	SOX11	6664	HP:0011800	Hypoplasia of midface
OMIM:615866	SOX11	6664	HP:0000430	Underdeveloped nasal alae
OMIM:615866	SOX11	6664	HP:0005288	Abnormality of the nares
OMIM:615866	SOX11	6664	HP:0003189	Long nose
OMIM:615866	SOX11	6664	HP:0012471	Thick vermilion border
OMIM:615866	SOX11	6664	HP:0000527	Long eyelashes
OMIM:615866	SOX11	6664	HP:0001510	Growth delay
OMIM:615866	SOX11	6664	HP:0000293	Full cheeks
OMIM:615866	SOX11	6664	HP:0000006	Autosomal dominant inheritance
OMIM:615866	SOX11	6664	HP:0000358	Posteriorly rotated ears
OMIM:615866	SOX11	6664	HP:0009882	Short distal phalanx of finger
OMIM:615866	SOX11	6664	HP:0000194	Open mouth
OMIM:615866	SOX11	6664	HP:0001249	Intellectual disability
OMIM:615866	SOX11	6664	HP:0009891	Underdeveloped supraorbital ridges
OMIM:615866	SOX11	6664	HP:0005280	Depressed nasal bridge
OMIM:615866	SOX11	6664	HP:0002553	Highly arched eyebrow
OMIM:615866	SMARCE1	6605	HP:0003196	Short nose
OMIM:615866	SMARCE1	6605	HP:0000322	Short philtrum
OMIM:615866	SMARCE1	6605	HP:0009929	Abnormality of the columella
OMIM:615866	SMARCE1	6605	HP:0000369	Low-set ears
OMIM:615866	SMARCE1	6605	HP:0000998	Hypertrichosis
OMIM:615866	SMARCE1	6605	HP:0001999	Abnormal facial shape
OMIM:615866	SMARCE1	6605	HP:0000331	Short chin
OMIM:615866	SMARCE1	6605	HP:0000252	Microcephaly
OMIM:615866	SMARCE1	6605	HP:0011937	Hypoplastic fifth toenail
OMIM:615866	SMARCE1	6605	HP:0012745	Short palpebral fissure
OMIM:615866	SMARCE1	6605	HP:0011800	Hypoplasia of midface
OMIM:615866	SMARCE1	6605	HP:0000430	Underdeveloped nasal alae
OMIM:615866	SMARCE1	6605	HP:0005288	Abnormality of the nares
OMIM:615866	SMARCE1	6605	HP:0003189	Long nose
OMIM:615866	SMARCE1	6605	HP:0012471	Thick vermilion border
OMIM:615866	SMARCE1	6605	HP:0000527	Long eyelashes
OMIM:615866	SMARCE1	6605	HP:0001510	Growth delay
OMIM:615866	SMARCE1	6605	HP:0000293	Full cheeks
OMIM:615866	SMARCE1	6605	HP:0000006	Autosomal dominant inheritance
OMIM:615866	SMARCE1	6605	HP:0000358	Posteriorly rotated ears
OMIM:615866	SMARCE1	6605	HP:0009882	Short distal phalanx of finger
OMIM:615866	SMARCE1	6605	HP:0000194	Open mouth
OMIM:615866	SMARCE1	6605	HP:0001249	Intellectual disability
OMIM:615866	SMARCE1	6605	HP:0009891	Underdeveloped supraorbital ridges
OMIM:615866	SMARCE1	6605	HP:0005280	Depressed nasal bridge
OMIM:615866	SMARCE1	6605	HP:0002553	Highly arched eyebrow
OMIM:607822	PSEN2	5664	HP:0002015	Dysphagia
OMIM:607822	PSEN2	5664	HP:0003581	Adult onset
OMIM:607822	PSEN2	5664	HP:0001260	Dysarthria
OMIM:607822	PSEN2	5664	HP:0002354	Memory impairment
OMIM:607822	PSEN2	5664	HP:0001250	Seizures
OMIM:607822	PSEN2	5664	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:607822	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:607822	PSEN2	5664	HP:0001288	Gait disturbance
OMIM:607822	PSEN2	5664	HP:0003678	Rapidly progressive
OMIM:607822	PSEN2	5664	HP:0002186	Apraxia
OMIM:607822	PSEN2	5664	HP:0001332	Dystonia
OMIM:607822	PSEN2	5664	HP:0003487	Babinski sign
OMIM:607822	PSEN2	5664	HP:0001285	Spastic tetraparesis
OMIM:607822	PSEN2	5664	HP:0002120	Cerebral cortical atrophy
OMIM:607822	PSEN2	5664	HP:0000726	Dementia
OMIM:607822	PSEN2	5664	HP:0010524	Agnosia
OMIM:607822	PSEN2	5664	HP:0001336	Myoclonus
OMIM:607822	SORL1	6653	HP:0002015	Dysphagia
OMIM:607822	SORL1	6653	HP:0003581	Adult onset
OMIM:607822	SORL1	6653	HP:0001260	Dysarthria
OMIM:607822	SORL1	6653	HP:0002354	Memory impairment
OMIM:607822	SORL1	6653	HP:0001250	Seizures
OMIM:607822	SORL1	6653	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:607822	SORL1	6653	HP:0000006	Autosomal dominant inheritance
OMIM:607822	SORL1	6653	HP:0001288	Gait disturbance
OMIM:607822	SORL1	6653	HP:0003678	Rapidly progressive
OMIM:607822	SORL1	6653	HP:0002186	Apraxia
OMIM:607822	SORL1	6653	HP:0001332	Dystonia
OMIM:607822	SORL1	6653	HP:0003487	Babinski sign
OMIM:607822	SORL1	6653	HP:0001285	Spastic tetraparesis
OMIM:607822	SORL1	6653	HP:0002120	Cerebral cortical atrophy
OMIM:607822	SORL1	6653	HP:0000726	Dementia
OMIM:607822	SORL1	6653	HP:0010524	Agnosia
OMIM:607822	SORL1	6653	HP:0001336	Myoclonus
OMIM:607822	PSEN1	5663	HP:0002015	Dysphagia
OMIM:607822	PSEN1	5663	HP:0003581	Adult onset
OMIM:607822	PSEN1	5663	HP:0001260	Dysarthria
OMIM:607822	PSEN1	5663	HP:0002354	Memory impairment
OMIM:607822	PSEN1	5663	HP:0001250	Seizures
OMIM:607822	PSEN1	5663	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:607822	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:607822	PSEN1	5663	HP:0001288	Gait disturbance
OMIM:607822	PSEN1	5663	HP:0003678	Rapidly progressive
OMIM:607822	PSEN1	5663	HP:0002186	Apraxia
OMIM:607822	PSEN1	5663	HP:0001332	Dystonia
OMIM:607822	PSEN1	5663	HP:0003487	Babinski sign
OMIM:607822	PSEN1	5663	HP:0001285	Spastic tetraparesis
OMIM:607822	PSEN1	5663	HP:0002120	Cerebral cortical atrophy
OMIM:607822	PSEN1	5663	HP:0000726	Dementia
OMIM:607822	PSEN1	5663	HP:0010524	Agnosia
OMIM:607822	PSEN1	5663	HP:0001336	Myoclonus
OMIM:607822	APP	351	HP:0002015	Dysphagia
OMIM:607822	APP	351	HP:0003581	Adult onset
OMIM:607822	APP	351	HP:0001260	Dysarthria
OMIM:607822	APP	351	HP:0002354	Memory impairment
OMIM:607822	APP	351	HP:0001250	Seizures
OMIM:607822	APP	351	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:607822	APP	351	HP:0000006	Autosomal dominant inheritance
OMIM:607822	APP	351	HP:0001288	Gait disturbance
OMIM:607822	APP	351	HP:0003678	Rapidly progressive
OMIM:607822	APP	351	HP:0002186	Apraxia
OMIM:607822	APP	351	HP:0001332	Dystonia
OMIM:607822	APP	351	HP:0003487	Babinski sign
OMIM:607822	APP	351	HP:0001285	Spastic tetraparesis
OMIM:607822	APP	351	HP:0002120	Cerebral cortical atrophy
OMIM:607822	APP	351	HP:0000726	Dementia
OMIM:607822	APP	351	HP:0010524	Agnosia
OMIM:607822	APP	351	HP:0001336	Myoclonus
ORPHANET:251071	GATA4	2626	HP:0000348	High forehead
ORPHANET:251071	GATA4	2626	HP:0004322	Short stature
ORPHANET:251071	GATA4	2626	HP:0009602	Abnormality of thumb phalanx
ORPHANET:251071	GATA4	2626	HP:0001643	Patent ductus arteriosus
ORPHANET:251071	GATA4	2626	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:251071	GATA4	2626	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:251071	GATA4	2626	HP:0001674	Complete atrioventricular canal defect
ORPHANET:251071	GATA4	2626	HP:0004383	Hypoplastic left heart
ORPHANET:251071	GATA4	2626	HP:0001636	Tetralogy of Fallot
ORPHANET:251071	GATA4	2626	HP:0000341	Narrow forehead
ORPHANET:251071	GATA4	2626	HP:0001679	Abnormality of the aorta
ORPHANET:251071	GATA4	2626	HP:0000174	Abnormality of the palate
ORPHANET:251071	GATA4	2626	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:251071	GATA4	2626	HP:0001511	Intrauterine growth retardation
ORPHANET:251071	GATA4	2626	HP:0000286	Epicanthus
ORPHANET:251071	GATA4	2626	HP:0000252	Microcephaly
ORPHANET:251071	GATA4	2626	HP:0000366	Abnormality of the nose
ORPHANET:251071	GATA4	2626	HP:0000470	Short neck
ORPHANET:251071	GATA4	2626	HP:0001669	Transposition of the great arteries
ORPHANET:251071	GATA4	2626	HP:0000028	Cryptorchidism
ORPHANET:251071	GATA4	2626	HP:0100543	Cognitive impairment
ORPHANET:251071	GATA4	2626	HP:0009623	Proximal placement of thumb
ORPHANET:251071	GATA4	2626	HP:0002167	Neurological speech impairment
ORPHANET:251071	GATA4	2626	HP:0000490	Deeply set eye
ORPHANET:251071	GATA4	2626	HP:0001841	Preaxial foot polydactyly
ORPHANET:251071	GATA4	2626	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:251071	GATA4	2626	HP:0008572	External ear malformation
ORPHANET:251071	GATA4	2626	HP:0001250	Seizures
ORPHANET:251071	GATA4	2626	HP:0001513	Obesity
ORPHANET:251071	GATA4	2626	HP:0001824	Weight loss
ORPHANET:251071	GATA4	2626	HP:0100627	Displacement of the external urethral meatus
OMIM:261540	B3GLCT	145173	HP:0000003	Multicystic kidney dysplasia
OMIM:261540	B3GLCT	145173	HP:0000582	Upslanted palpebral fissure
OMIM:261540	B3GLCT	145173	HP:0002007	Frontal bossing
OMIM:261540	B3GLCT	145173	HP:0007759	Opacification of the corneal stroma
OMIM:261540	B3GLCT	145173	HP:0003298	Spina bifida occulta
OMIM:261540	B3GLCT	145173	HP:0100543	Cognitive impairment
OMIM:261540	B3GLCT	145173	HP:0001388	Joint laxity
OMIM:261540	B3GLCT	145173	HP:0000219	Thin upper lip vermilion
OMIM:261540	B3GLCT	145173	HP:0000482	Microcornea
OMIM:261540	B3GLCT	145173	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:261540	B3GLCT	145173	HP:0001561	Polyhydramnios
OMIM:261540	B3GLCT	145173	HP:0000463	Anteverted nares
OMIM:261540	B3GLCT	145173	HP:0000639	Nystagmus
OMIM:261540	B3GLCT	145173	HP:0005280	Depressed nasal bridge
OMIM:261540	B3GLCT	145173	HP:0006610	Wide intermamillary distance
OMIM:261540	B3GLCT	145173	HP:0000508	Ptosis
OMIM:261540	B3GLCT	145173	HP:0004404	Abnormality of the nipple
OMIM:261540	B3GLCT	145173	HP:0000830	Anterior hypopituitarism
OMIM:261540	B3GLCT	145173	HP:0000518	Cataract
OMIM:261540	B3GLCT	145173	HP:0000252	Microcephaly
OMIM:261540	B3GLCT	145173	HP:0000047	Hypospadias
OMIM:261540	B3GLCT	145173	HP:0000202	Oral cleft
OMIM:261540	B3GLCT	145173	HP:0000501	Glaucoma
OMIM:261540	B3GLCT	145173	HP:0001511	Intrauterine growth retardation
OMIM:261540	B3GLCT	145173	HP:0000204	Cleft upper lip
OMIM:261540	B3GLCT	145173	HP:0010049	Short metacarpal
OMIM:261540	B3GLCT	145173	HP:0000154	Wide mouth
OMIM:261540	B3GLCT	145173	HP:0004325	Decreased body weight
OMIM:261540	B3GLCT	145173	HP:0001537	Umbilical hernia
OMIM:261540	B3GLCT	145173	HP:0000238	Hydrocephalus
OMIM:261540	B3GLCT	145173	HP:0100819	Intestinal fistula
OMIM:261540	B3GLCT	145173	HP:0001831	Short toe
OMIM:261540	B3GLCT	145173	HP:0000954	Single transverse palmar crease
OMIM:261540	B3GLCT	145173	HP:0000465	Webbed neck
OMIM:261540	B3GLCT	145173	HP:0000347	Micrognathia
OMIM:261540	B3GLCT	145173	HP:0000028	Cryptorchidism
OMIM:261540	B3GLCT	145173	HP:0001770	Toe syndactyly
OMIM:261540	B3GLCT	145173	HP:0000581	Blepharophimosis
OMIM:261540	B3GLCT	145173	HP:0001250	Seizures
OMIM:261540	B3GLCT	145173	HP:0000007	Autosomal recessive inheritance
OMIM:261540	B3GLCT	145173	HP:0000316	Hypertelorism
OMIM:261540	B3GLCT	145173	HP:0002120	Cerebral cortical atrophy
OMIM:261540	B3GLCT	145173	HP:0000256	Macrocephaly
OMIM:261540	B3GLCT	145173	HP:0002119	Ventriculomegaly
OMIM:261540	B3GLCT	145173	HP:0100627	Displacement of the external urethral meatus
OMIM:261540	B3GLCT	145173	HP:0001629	Ventricular septal defect
OMIM:261540	B3GLCT	145173	HP:0000013	Hypoplasia of the uterus
OMIM:261540	B3GLCT	145173	HP:0001761	Pes cavus
OMIM:261540	B3GLCT	145173	HP:0004209	Clinodactyly of the 5th finger
OMIM:261540	B3GLCT	145173	HP:0004467	Preauricular pit
OMIM:261540	B3GLCT	145173	HP:0000505	Visual impairment
OMIM:261540	B3GLCT	145173	HP:0000545	Myopia
OMIM:261540	B3GLCT	145173	HP:0000767	Pectus excavatum
OMIM:261540	B3GLCT	145173	HP:0000612	Iris coloboma
OMIM:261540	B3GLCT	145173	HP:0002996	Limited elbow movement
OMIM:261540	B3GLCT	145173	HP:0002219	Facial hypertrichosis
OMIM:261540	B3GLCT	145173	HP:0004414	Abnormality of the pulmonary artery
OMIM:261540	B3GLCT	145173	HP:0002937	Hemivertebrae
OMIM:261540	B3GLCT	145173	HP:0008726	Hypoplasia of the vagina
OMIM:261540	B3GLCT	145173	HP:0008905	Rhizomelia
OMIM:261540	B3GLCT	145173	HP:0000311	Round face
OMIM:261540	B3GLCT	145173	HP:0001159	Syndactyly
OMIM:261540	B3GLCT	145173	HP:0001274	Agenesis of corpus callosum
OMIM:261540	B3GLCT	145173	HP:0009623	Proximal placement of thumb
OMIM:261540	B3GLCT	145173	HP:0000648	Optic atrophy
OMIM:261540	B3GLCT	145173	HP:0008678	Renal hypoplasia/aplasia
OMIM:261540	B3GLCT	145173	HP:0000343	Long philtrum
OMIM:261540	B3GLCT	145173	HP:0004322	Short stature
OMIM:261540	B3GLCT	145173	HP:0000073	Ureteral duplication
OMIM:261540	B3GLCT	145173	HP:0000008	Abnormality of female internal genitalia
OMIM:261540	B3GLCT	145173	HP:0001773	Short foot
OMIM:261540	B3GLCT	145173	HP:0001631	Atria septal defect
OMIM:261540	B3GLCT	145173	HP:0000960	Sacral dimple
OMIM:261540	B3GLCT	145173	HP:0001671	Abnormality of the cardiac septa
OMIM:261540	B3GLCT	145173	HP:0000659	Peters anomaly
OMIM:261540	B3GLCT	145173	HP:0002650	Scoliosis
OMIM:261540	B3GLCT	145173	HP:0001080	Biliary tract abnormality
OMIM:261540	B3GLCT	145173	HP:0001156	Brachydactyly syndrome
OMIM:261540	B3GLCT	145173	HP:0000402	Stenosis of the external auditory canal
OMIM:261540	B3GLCT	145173	HP:0000055	Abnormality of female external genitalia
OMIM:261540	B3GLCT	145173	HP:0002059	Cerebral atrophy
OMIM:261540	B3GLCT	145173	HP:0006887	Intellectual disability, progressive
OMIM:261540	B3GLCT	145173	HP:0000126	Hydronephrosis
OMIM:261540	B3GLCT	145173	HP:0000233	Thin vermilion border
OMIM:261540	B3GLCT	145173	HP:0000480	Retinal coloboma
OMIM:261540	B3GLCT	145173	HP:0008872	Feeding difficulties in infancy
OMIM:261540	B3GLCT	145173	HP:0000069	Abnormality of the ureter
OMIM:261540	B3GLCT	145173	HP:0001363	Craniosynostosis
OMIM:261540	B3GLCT	145173	HP:0001642	Pulmonic stenosis
OMIM:261540	B3GLCT	145173	HP:0004279	Short palm
OMIM:261540	B3GLCT	145173	HP:0011220	Prominent forehead
OMIM:261540	B3GLCT	145173	HP:0000384	Preauricular skin tag
OMIM:261540	B3GLCT	145173	HP:0010743	Short metatarsal
OMIM:261540	B3GLCT	145173	HP:0003196	Short nose
OMIM:261540	B3GLCT	145173	HP:0002983	Micromelia
OMIM:261540	B3GLCT	145173	HP:0000368	Low-set, posteriorly rotated ears
OMIM:261540	B3GLCT	145173	HP:0000411	Protruding ear
OMIM:261540	B3GLCT	145173	HP:0100589	Urogenital fistula
OMIM:261540	B3GLCT	145173	HP:0008897	Postnatal growth retardation
OMIM:261540	B3GLCT	145173	HP:0000405	Conductive hearing impairment
OMIM:261540	B3GLCT	145173	HP:0000175	Cleft palate
OMIM:612160	CREB1	1385	HP:0001428	Somatic mutation
OMIM:193510	SOX10	6663	HP:0001425	Heterogeneous
OMIM:193510	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:193510	SOX10	6663	HP:0000664	Synophrys
OMIM:193510	SOX10	6663	HP:0002216	Premature graying of hair
OMIM:193510	SOX10	6663	HP:0003828	Variable expressivity
OMIM:193510	SOX10	6663	HP:0001022	Albinism
OMIM:193510	SOX10	6663	HP:0000431	Wide nasal bridge
OMIM:193510	SOX10	6663	HP:0008527	Congenital sensorineural hearing impairment
OMIM:193510	SOX10	6663	HP:0002226	White eyebrow
OMIM:193510	SOX10	6663	HP:0002227	White eyelashes
OMIM:193510	SOX10	6663	HP:0002211	White forelock
OMIM:193510	SOX10	6663	HP:0000430	Underdeveloped nasal alae
OMIM:193510	SOX10	6663	HP:0001100	Heterochromia iridis
OMIM:193510	MITF	4286	HP:0001425	Heterogeneous
OMIM:193510	MITF	4286	HP:0000006	Autosomal dominant inheritance
OMIM:193510	MITF	4286	HP:0000664	Synophrys
OMIM:193510	MITF	4286	HP:0002216	Premature graying of hair
OMIM:193510	MITF	4286	HP:0003828	Variable expressivity
OMIM:193510	MITF	4286	HP:0001022	Albinism
OMIM:193510	MITF	4286	HP:0000431	Wide nasal bridge
OMIM:193510	MITF	4286	HP:0008527	Congenital sensorineural hearing impairment
OMIM:193510	MITF	4286	HP:0002226	White eyebrow
OMIM:193510	MITF	4286	HP:0002227	White eyelashes
OMIM:193510	MITF	4286	HP:0002211	White forelock
OMIM:193510	MITF	4286	HP:0000430	Underdeveloped nasal alae
OMIM:193510	MITF	4286	HP:0001100	Heterochromia iridis
OMIM:193510	SNAI2	6591	HP:0001425	Heterogeneous
OMIM:193510	SNAI2	6591	HP:0000006	Autosomal dominant inheritance
OMIM:193510	SNAI2	6591	HP:0000664	Synophrys
OMIM:193510	SNAI2	6591	HP:0002216	Premature graying of hair
OMIM:193510	SNAI2	6591	HP:0003828	Variable expressivity
OMIM:193510	SNAI2	6591	HP:0001022	Albinism
OMIM:193510	SNAI2	6591	HP:0000431	Wide nasal bridge
OMIM:193510	SNAI2	6591	HP:0008527	Congenital sensorineural hearing impairment
OMIM:193510	SNAI2	6591	HP:0002226	White eyebrow
OMIM:193510	SNAI2	6591	HP:0002227	White eyelashes
OMIM:193510	SNAI2	6591	HP:0002211	White forelock
OMIM:193510	SNAI2	6591	HP:0000430	Underdeveloped nasal alae
OMIM:193510	SNAI2	6591	HP:0001100	Heterochromia iridis
OMIM:103470	TYR	7299	HP:0007663	Reduced visual acuity
OMIM:103470	TYR	7299	HP:0000486	Strabismus
OMIM:103470	TYR	7299	HP:0001010	Hypopigmentation of the skin
OMIM:103470	TYR	7299	HP:0001417	X-linked inheritance
OMIM:103470	TYR	7299	HP:0000639	Nystagmus
OMIM:103470	TYR	7299	HP:0000540	Hypermetropia
OMIM:103470	TYR	7299	HP:0000006	Autosomal dominant inheritance
OMIM:103470	TYR	7299	HP:0001107	Ocular albinism
OMIM:103470	TYR	7299	HP:0005592	Giant melanosomes in melanocytes
OMIM:103470	TYR	7299	HP:0000407	Sensorineural hearing impairment
OMIM:103470	TYR	7299	HP:0000505	Visual impairment
OMIM:103470	TYR	7299	HP:0001756	Vestibular hypofunction
OMIM:103470	TYR	7299	HP:0000613	Photophobia
OMIM:103470	MITF	4286	HP:0007663	Reduced visual acuity
OMIM:103470	MITF	4286	HP:0000486	Strabismus
OMIM:103470	MITF	4286	HP:0001010	Hypopigmentation of the skin
OMIM:103470	MITF	4286	HP:0001417	X-linked inheritance
OMIM:103470	MITF	4286	HP:0000639	Nystagmus
OMIM:103470	MITF	4286	HP:0000540	Hypermetropia
OMIM:103470	MITF	4286	HP:0000006	Autosomal dominant inheritance
OMIM:103470	MITF	4286	HP:0001107	Ocular albinism
OMIM:103470	MITF	4286	HP:0005592	Giant melanosomes in melanocytes
OMIM:103470	MITF	4286	HP:0000407	Sensorineural hearing impairment
OMIM:103470	MITF	4286	HP:0000505	Visual impairment
OMIM:103470	MITF	4286	HP:0001756	Vestibular hypofunction
OMIM:103470	MITF	4286	HP:0000613	Photophobia
OMIM:211980	ERBB2	2064	HP:0000007	Autosomal recessive inheritance
OMIM:211980	BRAF	673	HP:0000007	Autosomal recessive inheritance
OMIM:211980	RASSF1	11186	HP:0000007	Autosomal recessive inheritance
OMIM:211980	DLEC1	9940	HP:0000007	Autosomal recessive inheritance
OMIM:211980	EGFR	1956	HP:0000007	Autosomal recessive inheritance
OMIM:211980	KRAS	3845	HP:0000007	Autosomal recessive inheritance
OMIM:211980	PIK3CA	5290	HP:0000007	Autosomal recessive inheritance
OMIM:211980	SLC22A18	5002	HP:0000007	Autosomal recessive inheritance
OMIM:211980	IRF1	3659	HP:0000007	Autosomal recessive inheritance
OMIM:211980	MAP3K8	1326	HP:0000007	Autosomal recessive inheritance
OMIM:211980	PARK2	5071	HP:0000007	Autosomal recessive inheritance
OMIM:211980	PPP2R1B	5519	HP:0000007	Autosomal recessive inheritance
OMIM:300000	MID1	4281	HP:0000204	Cleft upper lip
OMIM:300000	MID1	4281	HP:0000506	Telecanthus
OMIM:300000	MID1	4281	HP:0000431	Wide nasal bridge
OMIM:300000	MID1	4281	HP:0001263	Global developmental delay
OMIM:300000	MID1	4281	HP:0000219	Thin upper lip vermilion
OMIM:300000	MID1	4281	HP:0002023	Anal atresia
OMIM:300000	MID1	4281	HP:0002015	Dysphagia
OMIM:300000	MID1	4281	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:300000	MID1	4281	HP:0001419	X-linked recessive inheritance
OMIM:300000	MID1	4281	HP:0000316	Hypertelorism
OMIM:300000	MID1	4281	HP:0011220	Prominent forehead
OMIM:300000	MID1	4281	HP:0001739	Abnormality of the nasopharynx
OMIM:300000	MID1	4281	HP:0002007	Frontal bossing
OMIM:300000	MID1	4281	HP:0002020	Gastroesophageal reflux
OMIM:300000	MID1	4281	HP:0000218	High palate
OMIM:300000	MID1	4281	HP:0000047	Hypospadias
OMIM:300000	MID1	4281	HP:0000319	Smooth philtrum
OMIM:300000	MID1	4281	HP:0000463	Anteverted nares
OMIM:300000	MID1	4281	HP:0000028	Cryptorchidism
OMIM:300000	MID1	4281	HP:0001274	Agenesis of corpus callosum
OMIM:300000	MID1	4281	HP:0000175	Cleft palate
OMIM:615706	EDN1	1906	HP:0000162	Glossoptosis
OMIM:615706	EDN1	1906	HP:0000347	Micrognathia
OMIM:615706	EDN1	1906	HP:0000293	Full cheeks
OMIM:615706	EDN1	1906	HP:0000193	Bifid uvula
OMIM:615706	EDN1	1906	HP:0000278	Retrognathia
OMIM:615706	EDN1	1906	HP:0000007	Autosomal recessive inheritance
OMIM:615706	EDN1	1906	HP:0000402	Stenosis of the external auditory canal
OMIM:615706	PLCB4	5332	HP:0000162	Glossoptosis
OMIM:615706	PLCB4	5332	HP:0000347	Micrognathia
OMIM:615706	PLCB4	5332	HP:0000293	Full cheeks
OMIM:615706	PLCB4	5332	HP:0000193	Bifid uvula
OMIM:615706	PLCB4	5332	HP:0000278	Retrognathia
OMIM:615706	PLCB4	5332	HP:0000007	Autosomal recessive inheritance
OMIM:615706	PLCB4	5332	HP:0000402	Stenosis of the external auditory canal
OMIM:615706	GNAI3	2773	HP:0000162	Glossoptosis
OMIM:615706	GNAI3	2773	HP:0000347	Micrognathia
OMIM:615706	GNAI3	2773	HP:0000293	Full cheeks
OMIM:615706	GNAI3	2773	HP:0000193	Bifid uvula
OMIM:615706	GNAI3	2773	HP:0000278	Retrognathia
OMIM:615706	GNAI3	2773	HP:0000007	Autosomal recessive inheritance
OMIM:615706	GNAI3	2773	HP:0000402	Stenosis of the external auditory canal
OMIM:222600	SLC26A2	1836	HP:0000944	Abnormality of the metaphyses
OMIM:222600	SLC26A2	1836	HP:0008873	Disproportionate short-limb short stature
OMIM:222600	SLC26A2	1836	HP:0001156	Brachydactyly syndrome
OMIM:222600	SLC26A2	1836	HP:0001609	Hoarse voice
OMIM:222600	SLC26A2	1836	HP:0002093	Respiratory insufficiency
OMIM:222600	SLC26A2	1836	HP:0000293	Full cheeks
OMIM:222600	SLC26A2	1836	HP:0000368	Low-set, posteriorly rotated ears
OMIM:222600	SLC26A2	1836	HP:0011001	Increased bone mineral density
OMIM:222600	SLC26A2	1836	HP:0006487	Bowing of the long bones
OMIM:222600	SLC26A2	1836	HP:0000365	Hearing impairment
OMIM:222600	SLC26A2	1836	HP:0009748	Large earlobe
OMIM:222600	SLC26A2	1836	HP:0002808	Kyphosis
OMIM:222600	SLC26A2	1836	HP:0002176	Spinal cord compression
OMIM:222600	SLC26A2	1836	HP:0002650	Scoliosis
OMIM:222600	SLC26A2	1836	HP:0000175	Cleft palate
OMIM:222600	SLC26A2	1836	HP:0003312	Abnormal form of the vertebral bodies
OMIM:222600	SLC26A2	1836	HP:0000316	Hypertelorism
OMIM:222600	SLC26A2	1836	HP:0001511	Intrauterine growth retardation
OMIM:222600	SLC26A2	1836	HP:0000347	Micrognathia
OMIM:222600	SLC26A2	1836	HP:0003026	Short long bone
OMIM:222600	SLC26A2	1836	HP:0000272	Malar flattening
OMIM:222600	SLC26A2	1836	HP:0001252	Muscular hypotonia
OMIM:222600	SLC26A2	1836	HP:0009465	Ulnar deviation of finger
OMIM:222600	SLC26A2	1836	HP:0000772	Abnormality of the ribs
OMIM:222600	SLC26A2	1836	HP:0001163	Abnormality of the metacarpal bones
OMIM:222600	SLC26A2	1836	HP:0003071	Flattened epiphysis
OMIM:222600	SLC26A2	1836	HP:0000974	Hyperextensible skin
OMIM:222600	SLC26A2	1836	HP:0000007	Autosomal recessive inheritance
OMIM:222600	SLC26A2	1836	HP:0003272	Abnormality of the hip bone
OMIM:222600	SLC26A2	1836	HP:0002205	Recurrent respiratory infections
OMIM:222600	SLC26A2	1836	HP:0000592	Blue sclerae
OMIM:222600	SLC26A2	1836	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:222600	SLC26A2	1836	HP:0100490	Camptodactyly of finger
OMIM:222600	SLC26A2	1836	HP:0003273	Hip contracture
OMIM:222600	SLC26A2	1836	HP:0000028	Cryptorchidism
OMIM:222600	SLC26A2	1836	HP:0001762	Talipes equinovarus
OMIM:222600	SLC26A2	1836	HP:0002751	Kyphoscoliosis
OMIM:222600	SLC26A2	1836	HP:0000889	Abnormality of the clavicle
OMIM:222600	SLC26A2	1836	HP:0002514	Cerebral calcification
OMIM:222600	SLC26A2	1836	HP:0005280	Depressed nasal bridge
OMIM:222600	SLC26A2	1836	HP:0001376	Limitation of joint mobility
OMIM:222600	SLC26A2	1836	HP:0002983	Micromelia
OMIM:222600	SLC26A2	1836	HP:0001382	Joint hypermobility
OMIM:222600	SLC26A2	1836	HP:0009623	Proximal placement of thumb
OMIM:222600	SLC26A2	1836	HP:0003042	Elbow dislocation
OMIM:222600	SLC26A2	1836	HP:0009381	Short finger
OMIM:222600	SLC26A2	1836	HP:0000256	Macrocephaly
OMIM:222600	SLC26A2	1836	HP:0000396	Overfolded helix
OMIM:602078	TUBB2B	347733	HP:0000505	Visual impairment
OMIM:602078	TUBB2B	347733	HP:0000007	Autosomal recessive inheritance
OMIM:602078	TUBB2B	347733	HP:0000646	Amblyopia
OMIM:602078	TUBB2B	347733	HP:0000577	Exotropia
OMIM:602078	PHOX2A	401	HP:0000505	Visual impairment
OMIM:602078	PHOX2A	401	HP:0000007	Autosomal recessive inheritance
OMIM:602078	PHOX2A	401	HP:0000646	Amblyopia
OMIM:602078	PHOX2A	401	HP:0000577	Exotropia
OMIM:602078	KIF21A	55605	HP:0000505	Visual impairment
OMIM:602078	KIF21A	55605	HP:0000007	Autosomal recessive inheritance
OMIM:602078	KIF21A	55605	HP:0000646	Amblyopia
OMIM:602078	KIF21A	55605	HP:0000577	Exotropia
OMIM:602078	COL25A1	84570	HP:0000505	Visual impairment
OMIM:602078	COL25A1	84570	HP:0000007	Autosomal recessive inheritance
OMIM:602078	COL25A1	84570	HP:0000646	Amblyopia
OMIM:602078	COL25A1	84570	HP:0000577	Exotropia
OMIM:602078	TUBB3	10381	HP:0000505	Visual impairment
OMIM:602078	TUBB3	10381	HP:0000007	Autosomal recessive inheritance
OMIM:602078	TUBB3	10381	HP:0000646	Amblyopia
OMIM:602078	TUBB3	10381	HP:0000577	Exotropia
ORPHANET:500	BRAF	673	HP:0002617	Aneurysm
ORPHANET:500	BRAF	673	HP:0000974	Hyperextensible skin
ORPHANET:500	BRAF	673	HP:0001909	Leukemia
ORPHANET:500	BRAF	673	HP:0000144	Decreased fertility
ORPHANET:500	BRAF	673	HP:0100627	Displacement of the external urethral meatus
ORPHANET:500	BRAF	673	HP:0000768	Pectus carinatum
ORPHANET:500	BRAF	673	HP:0000325	Triangular face
ORPHANET:500	BRAF	673	HP:0002648	Abnormality of calvarial morphology
ORPHANET:500	BRAF	673	HP:0000316	Hypertelorism
ORPHANET:500	BRAF	673	HP:0000366	Abnormality of the nose
ORPHANET:500	BRAF	673	HP:0003006	Neuroblastoma
ORPHANET:500	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:500	BRAF	673	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:500	BRAF	673	HP:0000407	Sensorineural hearing impairment
ORPHANET:500	BRAF	673	HP:0000465	Webbed neck
ORPHANET:500	BRAF	673	HP:0001674	Complete atrioventricular canal defect
ORPHANET:500	BRAF	673	HP:0003298	Spina bifida occulta
ORPHANET:500	BRAF	673	HP:0000508	Ptosis
ORPHANET:500	BRAF	673	HP:0002861	Melanoma
ORPHANET:500	BRAF	673	HP:0001480	Freckling
ORPHANET:500	BRAF	673	HP:0001677	Coronary artery disease
ORPHANET:500	BRAF	673	HP:0000767	Pectus excavatum
ORPHANET:500	BRAF	673	HP:0000912	Sprengel anomaly
ORPHANET:500	BRAF	673	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:500	BRAF	673	HP:0000995	Melanocytic nevus
ORPHANET:500	BRAF	673	HP:0001511	Intrauterine growth retardation
ORPHANET:500	BRAF	673	HP:0000028	Cryptorchidism
ORPHANET:500	BRAF	673	HP:0004306	Abnormality of the endocardium
ORPHANET:500	BRAF	673	HP:0002863	Myelodysplasia
ORPHANET:500	BRAF	673	HP:0002650	Scoliosis
ORPHANET:500	BRAF	673	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:500	BRAF	673	HP:0100542	Abnormal localization of kidney
ORPHANET:500	BRAF	673	HP:0004322	Short stature
ORPHANET:500	BRAF	673	HP:0011675	Arrhythmia
ORPHANET:500	BRAF	673	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:500	BRAF	673	HP:0001633	Abnormality of the mitral valve
ORPHANET:500	BRAF	673	HP:0100543	Cognitive impairment
ORPHANET:500	BRAF	673	HP:0001608	Abnormality of the voice
ORPHANET:500	PTPN11	5781	HP:0002617	Aneurysm
ORPHANET:500	PTPN11	5781	HP:0000974	Hyperextensible skin
ORPHANET:500	PTPN11	5781	HP:0001909	Leukemia
ORPHANET:500	PTPN11	5781	HP:0000144	Decreased fertility
ORPHANET:500	PTPN11	5781	HP:0100627	Displacement of the external urethral meatus
ORPHANET:500	PTPN11	5781	HP:0000768	Pectus carinatum
ORPHANET:500	PTPN11	5781	HP:0000325	Triangular face
ORPHANET:500	PTPN11	5781	HP:0002648	Abnormality of calvarial morphology
ORPHANET:500	PTPN11	5781	HP:0000316	Hypertelorism
ORPHANET:500	PTPN11	5781	HP:0000366	Abnormality of the nose
ORPHANET:500	PTPN11	5781	HP:0003006	Neuroblastoma
ORPHANET:500	PTPN11	5781	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:500	PTPN11	5781	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:500	PTPN11	5781	HP:0000407	Sensorineural hearing impairment
ORPHANET:500	PTPN11	5781	HP:0000465	Webbed neck
ORPHANET:500	PTPN11	5781	HP:0001674	Complete atrioventricular canal defect
ORPHANET:500	PTPN11	5781	HP:0003298	Spina bifida occulta
ORPHANET:500	PTPN11	5781	HP:0000508	Ptosis
ORPHANET:500	PTPN11	5781	HP:0002861	Melanoma
ORPHANET:500	PTPN11	5781	HP:0001480	Freckling
ORPHANET:500	PTPN11	5781	HP:0001677	Coronary artery disease
ORPHANET:500	PTPN11	5781	HP:0000767	Pectus excavatum
ORPHANET:500	PTPN11	5781	HP:0000912	Sprengel anomaly
ORPHANET:500	PTPN11	5781	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:500	PTPN11	5781	HP:0000995	Melanocytic nevus
ORPHANET:500	PTPN11	5781	HP:0001511	Intrauterine growth retardation
ORPHANET:500	PTPN11	5781	HP:0000028	Cryptorchidism
ORPHANET:500	PTPN11	5781	HP:0004306	Abnormality of the endocardium
ORPHANET:500	PTPN11	5781	HP:0002863	Myelodysplasia
ORPHANET:500	PTPN11	5781	HP:0002650	Scoliosis
ORPHANET:500	PTPN11	5781	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:500	PTPN11	5781	HP:0100542	Abnormal localization of kidney
ORPHANET:500	PTPN11	5781	HP:0004322	Short stature
ORPHANET:500	PTPN11	5781	HP:0011675	Arrhythmia
ORPHANET:500	PTPN11	5781	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:500	PTPN11	5781	HP:0001633	Abnormality of the mitral valve
ORPHANET:500	PTPN11	5781	HP:0100543	Cognitive impairment
ORPHANET:500	PTPN11	5781	HP:0001608	Abnormality of the voice
ORPHANET:500	RAF1	5894	HP:0002617	Aneurysm
ORPHANET:500	RAF1	5894	HP:0000974	Hyperextensible skin
ORPHANET:500	RAF1	5894	HP:0001909	Leukemia
ORPHANET:500	RAF1	5894	HP:0000144	Decreased fertility
ORPHANET:500	RAF1	5894	HP:0100627	Displacement of the external urethral meatus
ORPHANET:500	RAF1	5894	HP:0000768	Pectus carinatum
ORPHANET:500	RAF1	5894	HP:0000325	Triangular face
ORPHANET:500	RAF1	5894	HP:0002648	Abnormality of calvarial morphology
ORPHANET:500	RAF1	5894	HP:0000316	Hypertelorism
ORPHANET:500	RAF1	5894	HP:0000366	Abnormality of the nose
ORPHANET:500	RAF1	5894	HP:0003006	Neuroblastoma
ORPHANET:500	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:500	RAF1	5894	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:500	RAF1	5894	HP:0000407	Sensorineural hearing impairment
ORPHANET:500	RAF1	5894	HP:0000465	Webbed neck
ORPHANET:500	RAF1	5894	HP:0001674	Complete atrioventricular canal defect
ORPHANET:500	RAF1	5894	HP:0003298	Spina bifida occulta
ORPHANET:500	RAF1	5894	HP:0000508	Ptosis
ORPHANET:500	RAF1	5894	HP:0002861	Melanoma
ORPHANET:500	RAF1	5894	HP:0001480	Freckling
ORPHANET:500	RAF1	5894	HP:0001677	Coronary artery disease
ORPHANET:500	RAF1	5894	HP:0000767	Pectus excavatum
ORPHANET:500	RAF1	5894	HP:0000912	Sprengel anomaly
ORPHANET:500	RAF1	5894	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:500	RAF1	5894	HP:0000995	Melanocytic nevus
ORPHANET:500	RAF1	5894	HP:0001511	Intrauterine growth retardation
ORPHANET:500	RAF1	5894	HP:0000028	Cryptorchidism
ORPHANET:500	RAF1	5894	HP:0004306	Abnormality of the endocardium
ORPHANET:500	RAF1	5894	HP:0002863	Myelodysplasia
ORPHANET:500	RAF1	5894	HP:0002650	Scoliosis
ORPHANET:500	RAF1	5894	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:500	RAF1	5894	HP:0100542	Abnormal localization of kidney
ORPHANET:500	RAF1	5894	HP:0004322	Short stature
ORPHANET:500	RAF1	5894	HP:0011675	Arrhythmia
ORPHANET:500	RAF1	5894	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:500	RAF1	5894	HP:0001633	Abnormality of the mitral valve
ORPHANET:500	RAF1	5894	HP:0100543	Cognitive impairment
ORPHANET:500	RAF1	5894	HP:0001608	Abnormality of the voice
OMIM:300882	SMC1A	8243	HP:0000347	Micrognathia
OMIM:300882	SMC1A	8243	HP:0000233	Thin vermilion border
OMIM:300882	SMC1A	8243	HP:0001263	Global developmental delay
OMIM:300882	SMC1A	8243	HP:0008872	Feeding difficulties in infancy
OMIM:300882	SMC1A	8243	HP:0000294	Low anterior hairline
OMIM:300882	SMC1A	8243	HP:0000506	Telecanthus
OMIM:300882	SMC1A	8243	HP:0000965	Cutis marmorata
OMIM:300882	SMC1A	8243	HP:0001770	Toe syndactyly
OMIM:300882	SMC1A	8243	HP:0000470	Short neck
OMIM:300882	SMC1A	8243	HP:0000545	Myopia
OMIM:300882	SMC1A	8243	HP:0001417	X-linked inheritance
OMIM:300882	SMC1A	8243	HP:0000343	Long philtrum
OMIM:300882	SMC1A	8243	HP:0002020	Gastroesophageal reflux
OMIM:300882	SMC1A	8243	HP:0002714	Downturned corners of mouth
OMIM:300882	SMC1A	8243	HP:0001007	Hirsutism
OMIM:300882	SMC1A	8243	HP:0000508	Ptosis
OMIM:300882	SMC1A	8243	HP:0000664	Synophrys
OMIM:300882	SMC1A	8243	HP:0009623	Proximal placement of thumb
OMIM:300882	SMC1A	8243	HP:0000527	Long eyelashes
OMIM:300882	SMC1A	8243	HP:0200055	Small hand
OMIM:300882	SMC1A	8243	HP:0004209	Clinodactyly of the 5th finger
OMIM:300882	SMC1A	8243	HP:0000426	Prominent nasal bridge
OMIM:300882	SMC1A	8243	HP:0001773	Short foot
OMIM:300882	SMC1A	8243	HP:0000316	Hypertelorism
OMIM:300882	SMC1A	8243	HP:0000175	Cleft palate
OMIM:300882	SMC1A	8243	HP:0001250	Seizures
OMIM:300882	SMC1A	8243	HP:0008897	Postnatal growth retardation
OMIM:300882	SMC1A	8243	HP:0000365	Hearing impairment
OMIM:300882	SMC1A	8243	HP:0001249	Intellectual disability
OMIM:300882	SMC1A	8243	HP:0000248	Brachycephaly
OMIM:300882	SMC1A	8243	HP:0000687	Widely spaced teeth
OMIM:300882	SMC1A	8243	HP:0000218	High palate
OMIM:300882	SMC1A	8243	HP:0005280	Depressed nasal bridge
OMIM:300882	SMC1A	8243	HP:0000278	Retrognathia
OMIM:300882	SMC1A	8243	HP:0000455	Broad nasal tip
OMIM:300882	SMC1A	8243	HP:0002119	Ventriculomegaly
OMIM:300882	SMC1A	8243	HP:0002553	Highly arched eyebrow
OMIM:300882	SMC3	9126	HP:0000347	Micrognathia
OMIM:300882	SMC3	9126	HP:0000233	Thin vermilion border
OMIM:300882	SMC3	9126	HP:0001263	Global developmental delay
OMIM:300882	SMC3	9126	HP:0008872	Feeding difficulties in infancy
OMIM:300882	SMC3	9126	HP:0000294	Low anterior hairline
OMIM:300882	SMC3	9126	HP:0000506	Telecanthus
OMIM:300882	SMC3	9126	HP:0000965	Cutis marmorata
OMIM:300882	SMC3	9126	HP:0001770	Toe syndactyly
OMIM:300882	SMC3	9126	HP:0000470	Short neck
OMIM:300882	SMC3	9126	HP:0000545	Myopia
OMIM:300882	SMC3	9126	HP:0001417	X-linked inheritance
OMIM:300882	SMC3	9126	HP:0000343	Long philtrum
OMIM:300882	SMC3	9126	HP:0002020	Gastroesophageal reflux
OMIM:300882	SMC3	9126	HP:0002714	Downturned corners of mouth
OMIM:300882	SMC3	9126	HP:0001007	Hirsutism
OMIM:300882	SMC3	9126	HP:0000508	Ptosis
OMIM:300882	SMC3	9126	HP:0000664	Synophrys
OMIM:300882	SMC3	9126	HP:0009623	Proximal placement of thumb
OMIM:300882	SMC3	9126	HP:0000527	Long eyelashes
OMIM:300882	SMC3	9126	HP:0200055	Small hand
OMIM:300882	SMC3	9126	HP:0004209	Clinodactyly of the 5th finger
OMIM:300882	SMC3	9126	HP:0000426	Prominent nasal bridge
OMIM:300882	SMC3	9126	HP:0001773	Short foot
OMIM:300882	SMC3	9126	HP:0000316	Hypertelorism
OMIM:300882	SMC3	9126	HP:0000175	Cleft palate
OMIM:300882	SMC3	9126	HP:0001250	Seizures
OMIM:300882	SMC3	9126	HP:0008897	Postnatal growth retardation
OMIM:300882	SMC3	9126	HP:0000365	Hearing impairment
OMIM:300882	SMC3	9126	HP:0001249	Intellectual disability
OMIM:300882	SMC3	9126	HP:0000248	Brachycephaly
OMIM:300882	SMC3	9126	HP:0000687	Widely spaced teeth
OMIM:300882	SMC3	9126	HP:0000218	High palate
OMIM:300882	SMC3	9126	HP:0005280	Depressed nasal bridge
OMIM:300882	SMC3	9126	HP:0000278	Retrognathia
OMIM:300882	SMC3	9126	HP:0000455	Broad nasal tip
OMIM:300882	SMC3	9126	HP:0002119	Ventriculomegaly
OMIM:300882	SMC3	9126	HP:0002553	Highly arched eyebrow
OMIM:300882	NIPBL	25836	HP:0000347	Micrognathia
OMIM:300882	NIPBL	25836	HP:0000233	Thin vermilion border
OMIM:300882	NIPBL	25836	HP:0001263	Global developmental delay
OMIM:300882	NIPBL	25836	HP:0008872	Feeding difficulties in infancy
OMIM:300882	NIPBL	25836	HP:0000294	Low anterior hairline
OMIM:300882	NIPBL	25836	HP:0000506	Telecanthus
OMIM:300882	NIPBL	25836	HP:0000965	Cutis marmorata
OMIM:300882	NIPBL	25836	HP:0001770	Toe syndactyly
OMIM:300882	NIPBL	25836	HP:0000470	Short neck
OMIM:300882	NIPBL	25836	HP:0000545	Myopia
OMIM:300882	NIPBL	25836	HP:0001417	X-linked inheritance
OMIM:300882	NIPBL	25836	HP:0000343	Long philtrum
OMIM:300882	NIPBL	25836	HP:0002020	Gastroesophageal reflux
OMIM:300882	NIPBL	25836	HP:0002714	Downturned corners of mouth
OMIM:300882	NIPBL	25836	HP:0001007	Hirsutism
OMIM:300882	NIPBL	25836	HP:0000508	Ptosis
OMIM:300882	NIPBL	25836	HP:0000664	Synophrys
OMIM:300882	NIPBL	25836	HP:0009623	Proximal placement of thumb
OMIM:300882	NIPBL	25836	HP:0000527	Long eyelashes
OMIM:300882	NIPBL	25836	HP:0200055	Small hand
OMIM:300882	NIPBL	25836	HP:0004209	Clinodactyly of the 5th finger
OMIM:300882	NIPBL	25836	HP:0000426	Prominent nasal bridge
OMIM:300882	NIPBL	25836	HP:0001773	Short foot
OMIM:300882	NIPBL	25836	HP:0000316	Hypertelorism
OMIM:300882	NIPBL	25836	HP:0000175	Cleft palate
OMIM:300882	NIPBL	25836	HP:0001250	Seizures
OMIM:300882	NIPBL	25836	HP:0008897	Postnatal growth retardation
OMIM:300882	NIPBL	25836	HP:0000365	Hearing impairment
OMIM:300882	NIPBL	25836	HP:0001249	Intellectual disability
OMIM:300882	NIPBL	25836	HP:0000248	Brachycephaly
OMIM:300882	NIPBL	25836	HP:0000687	Widely spaced teeth
OMIM:300882	NIPBL	25836	HP:0000218	High palate
OMIM:300882	NIPBL	25836	HP:0005280	Depressed nasal bridge
OMIM:300882	NIPBL	25836	HP:0000278	Retrognathia
OMIM:300882	NIPBL	25836	HP:0000455	Broad nasal tip
OMIM:300882	NIPBL	25836	HP:0002119	Ventriculomegaly
OMIM:300882	NIPBL	25836	HP:0002553	Highly arched eyebrow
OMIM:300882	HDAC8	55869	HP:0000347	Micrognathia
OMIM:300882	HDAC8	55869	HP:0000233	Thin vermilion border
OMIM:300882	HDAC8	55869	HP:0001263	Global developmental delay
OMIM:300882	HDAC8	55869	HP:0008872	Feeding difficulties in infancy
OMIM:300882	HDAC8	55869	HP:0000294	Low anterior hairline
OMIM:300882	HDAC8	55869	HP:0000506	Telecanthus
OMIM:300882	HDAC8	55869	HP:0000965	Cutis marmorata
OMIM:300882	HDAC8	55869	HP:0001770	Toe syndactyly
OMIM:300882	HDAC8	55869	HP:0000470	Short neck
OMIM:300882	HDAC8	55869	HP:0000545	Myopia
OMIM:300882	HDAC8	55869	HP:0001417	X-linked inheritance
OMIM:300882	HDAC8	55869	HP:0000343	Long philtrum
OMIM:300882	HDAC8	55869	HP:0002020	Gastroesophageal reflux
OMIM:300882	HDAC8	55869	HP:0002714	Downturned corners of mouth
OMIM:300882	HDAC8	55869	HP:0001007	Hirsutism
OMIM:300882	HDAC8	55869	HP:0000508	Ptosis
OMIM:300882	HDAC8	55869	HP:0000664	Synophrys
OMIM:300882	HDAC8	55869	HP:0009623	Proximal placement of thumb
OMIM:300882	HDAC8	55869	HP:0000527	Long eyelashes
OMIM:300882	HDAC8	55869	HP:0200055	Small hand
OMIM:300882	HDAC8	55869	HP:0004209	Clinodactyly of the 5th finger
OMIM:300882	HDAC8	55869	HP:0000426	Prominent nasal bridge
OMIM:300882	HDAC8	55869	HP:0001773	Short foot
OMIM:300882	HDAC8	55869	HP:0000316	Hypertelorism
OMIM:300882	HDAC8	55869	HP:0000175	Cleft palate
OMIM:300882	HDAC8	55869	HP:0001250	Seizures
OMIM:300882	HDAC8	55869	HP:0008897	Postnatal growth retardation
OMIM:300882	HDAC8	55869	HP:0000365	Hearing impairment
OMIM:300882	HDAC8	55869	HP:0001249	Intellectual disability
OMIM:300882	HDAC8	55869	HP:0000248	Brachycephaly
OMIM:300882	HDAC8	55869	HP:0000687	Widely spaced teeth
OMIM:300882	HDAC8	55869	HP:0000218	High palate
OMIM:300882	HDAC8	55869	HP:0005280	Depressed nasal bridge
OMIM:300882	HDAC8	55869	HP:0000278	Retrognathia
OMIM:300882	HDAC8	55869	HP:0000455	Broad nasal tip
OMIM:300882	HDAC8	55869	HP:0002119	Ventriculomegaly
OMIM:300882	HDAC8	55869	HP:0002553	Highly arched eyebrow
OMIM:300882	RAD21	5885	HP:0000347	Micrognathia
OMIM:300882	RAD21	5885	HP:0000233	Thin vermilion border
OMIM:300882	RAD21	5885	HP:0001263	Global developmental delay
OMIM:300882	RAD21	5885	HP:0008872	Feeding difficulties in infancy
OMIM:300882	RAD21	5885	HP:0000294	Low anterior hairline
OMIM:300882	RAD21	5885	HP:0000506	Telecanthus
OMIM:300882	RAD21	5885	HP:0000965	Cutis marmorata
OMIM:300882	RAD21	5885	HP:0001770	Toe syndactyly
OMIM:300882	RAD21	5885	HP:0000470	Short neck
OMIM:300882	RAD21	5885	HP:0000545	Myopia
OMIM:300882	RAD21	5885	HP:0001417	X-linked inheritance
OMIM:300882	RAD21	5885	HP:0000343	Long philtrum
OMIM:300882	RAD21	5885	HP:0002020	Gastroesophageal reflux
OMIM:300882	RAD21	5885	HP:0002714	Downturned corners of mouth
OMIM:300882	RAD21	5885	HP:0001007	Hirsutism
OMIM:300882	RAD21	5885	HP:0000508	Ptosis
OMIM:300882	RAD21	5885	HP:0000664	Synophrys
OMIM:300882	RAD21	5885	HP:0009623	Proximal placement of thumb
OMIM:300882	RAD21	5885	HP:0000527	Long eyelashes
OMIM:300882	RAD21	5885	HP:0200055	Small hand
OMIM:300882	RAD21	5885	HP:0004209	Clinodactyly of the 5th finger
OMIM:300882	RAD21	5885	HP:0000426	Prominent nasal bridge
OMIM:300882	RAD21	5885	HP:0001773	Short foot
OMIM:300882	RAD21	5885	HP:0000316	Hypertelorism
OMIM:300882	RAD21	5885	HP:0000175	Cleft palate
OMIM:300882	RAD21	5885	HP:0001250	Seizures
OMIM:300882	RAD21	5885	HP:0008897	Postnatal growth retardation
OMIM:300882	RAD21	5885	HP:0000365	Hearing impairment
OMIM:300882	RAD21	5885	HP:0001249	Intellectual disability
OMIM:300882	RAD21	5885	HP:0000248	Brachycephaly
OMIM:300882	RAD21	5885	HP:0000687	Widely spaced teeth
OMIM:300882	RAD21	5885	HP:0000218	High palate
OMIM:300882	RAD21	5885	HP:0005280	Depressed nasal bridge
OMIM:300882	RAD21	5885	HP:0000278	Retrognathia
OMIM:300882	RAD21	5885	HP:0000455	Broad nasal tip
OMIM:300882	RAD21	5885	HP:0002119	Ventriculomegaly
OMIM:300882	RAD21	5885	HP:0002553	Highly arched eyebrow
OMIM:166210	PPIB	5479	HP:0008873	Disproportionate short-limb short stature
OMIM:166210	PPIB	5479	HP:0001518	Small for gestational age
OMIM:166210	PPIB	5479	HP:0002757	Recurrent fractures
OMIM:166210	PPIB	5479	HP:0002093	Respiratory insufficiency
OMIM:166210	PPIB	5479	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:166210	PPIB	5479	HP:0000444	Convex nasal ridge
OMIM:166210	PPIB	5479	HP:0001635	Congestive heart failure
OMIM:166210	PPIB	5479	HP:0005622	Broad long bones
OMIM:166210	PPIB	5479	HP:0002982	Tibial bowing
OMIM:166210	PPIB	5479	HP:0000239	Large fontanelles
OMIM:166210	PPIB	5479	HP:0000592	Blue sclerae
OMIM:166210	PPIB	5479	HP:0000926	Platyspondyly
OMIM:166210	PPIB	5479	HP:0001622	Premature birth
OMIM:166210	PPIB	5479	HP:0010444	Pulmonary insufficiency
OMIM:166210	PPIB	5479	HP:0000963	Thin skin
OMIM:166210	PPIB	5479	HP:0000923	Beaded ribs
OMIM:166210	PPIB	5479	HP:0002645	Wormian bones
OMIM:166210	PPIB	5479	HP:0000006	Autosomal dominant inheritance
OMIM:166210	CRTAP	10491	HP:0008873	Disproportionate short-limb short stature
OMIM:166210	CRTAP	10491	HP:0001518	Small for gestational age
OMIM:166210	CRTAP	10491	HP:0002757	Recurrent fractures
OMIM:166210	CRTAP	10491	HP:0002093	Respiratory insufficiency
OMIM:166210	CRTAP	10491	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:166210	CRTAP	10491	HP:0000444	Convex nasal ridge
OMIM:166210	CRTAP	10491	HP:0001635	Congestive heart failure
OMIM:166210	CRTAP	10491	HP:0005622	Broad long bones
OMIM:166210	CRTAP	10491	HP:0002982	Tibial bowing
OMIM:166210	CRTAP	10491	HP:0000239	Large fontanelles
OMIM:166210	CRTAP	10491	HP:0000592	Blue sclerae
OMIM:166210	CRTAP	10491	HP:0000926	Platyspondyly
OMIM:166210	CRTAP	10491	HP:0001622	Premature birth
OMIM:166210	CRTAP	10491	HP:0010444	Pulmonary insufficiency
OMIM:166210	CRTAP	10491	HP:0000963	Thin skin
OMIM:166210	CRTAP	10491	HP:0000923	Beaded ribs
OMIM:166210	CRTAP	10491	HP:0002645	Wormian bones
OMIM:166210	CRTAP	10491	HP:0000006	Autosomal dominant inheritance
OMIM:166210	COL1A1	1277	HP:0008873	Disproportionate short-limb short stature
OMIM:166210	COL1A1	1277	HP:0001518	Small for gestational age
OMIM:166210	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:166210	COL1A1	1277	HP:0002093	Respiratory insufficiency
OMIM:166210	COL1A1	1277	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:166210	COL1A1	1277	HP:0000444	Convex nasal ridge
OMIM:166210	COL1A1	1277	HP:0001635	Congestive heart failure
OMIM:166210	COL1A1	1277	HP:0005622	Broad long bones
OMIM:166210	COL1A1	1277	HP:0002982	Tibial bowing
OMIM:166210	COL1A1	1277	HP:0000239	Large fontanelles
OMIM:166210	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:166210	COL1A1	1277	HP:0000926	Platyspondyly
OMIM:166210	COL1A1	1277	HP:0001622	Premature birth
OMIM:166210	COL1A1	1277	HP:0010444	Pulmonary insufficiency
OMIM:166210	COL1A1	1277	HP:0000963	Thin skin
OMIM:166210	COL1A1	1277	HP:0000923	Beaded ribs
OMIM:166210	COL1A1	1277	HP:0002645	Wormian bones
OMIM:166210	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:166210	COL1A2	1278	HP:0008873	Disproportionate short-limb short stature
OMIM:166210	COL1A2	1278	HP:0001518	Small for gestational age
OMIM:166210	COL1A2	1278	HP:0002757	Recurrent fractures
OMIM:166210	COL1A2	1278	HP:0002093	Respiratory insufficiency
OMIM:166210	COL1A2	1278	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:166210	COL1A2	1278	HP:0000444	Convex nasal ridge
OMIM:166210	COL1A2	1278	HP:0001635	Congestive heart failure
OMIM:166210	COL1A2	1278	HP:0005622	Broad long bones
OMIM:166210	COL1A2	1278	HP:0002982	Tibial bowing
OMIM:166210	COL1A2	1278	HP:0000239	Large fontanelles
OMIM:166210	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:166210	COL1A2	1278	HP:0000926	Platyspondyly
OMIM:166210	COL1A2	1278	HP:0001622	Premature birth
OMIM:166210	COL1A2	1278	HP:0010444	Pulmonary insufficiency
OMIM:166210	COL1A2	1278	HP:0000963	Thin skin
OMIM:166210	COL1A2	1278	HP:0000923	Beaded ribs
OMIM:166210	COL1A2	1278	HP:0002645	Wormian bones
OMIM:166210	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
OMIM:166210	P3H1	64175	HP:0008873	Disproportionate short-limb short stature
OMIM:166210	P3H1	64175	HP:0001518	Small for gestational age
OMIM:166210	P3H1	64175	HP:0002757	Recurrent fractures
OMIM:166210	P3H1	64175	HP:0002093	Respiratory insufficiency
OMIM:166210	P3H1	64175	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:166210	P3H1	64175	HP:0000444	Convex nasal ridge
OMIM:166210	P3H1	64175	HP:0001635	Congestive heart failure
OMIM:166210	P3H1	64175	HP:0005622	Broad long bones
OMIM:166210	P3H1	64175	HP:0002982	Tibial bowing
OMIM:166210	P3H1	64175	HP:0000239	Large fontanelles
OMIM:166210	P3H1	64175	HP:0000592	Blue sclerae
OMIM:166210	P3H1	64175	HP:0000926	Platyspondyly
OMIM:166210	P3H1	64175	HP:0001622	Premature birth
OMIM:166210	P3H1	64175	HP:0010444	Pulmonary insufficiency
OMIM:166210	P3H1	64175	HP:0000963	Thin skin
OMIM:166210	P3H1	64175	HP:0000923	Beaded ribs
OMIM:166210	P3H1	64175	HP:0002645	Wormian bones
OMIM:166210	P3H1	64175	HP:0000006	Autosomal dominant inheritance
ORPHANET:63440	ZIC1	7545	HP:0000648	Optic atrophy
ORPHANET:63440	ZIC1	7545	HP:0100543	Cognitive impairment
ORPHANET:63440	ZIC1	7545	HP:0002308	Arnold-Chiari malformation
ORPHANET:63440	ZIC1	7545	HP:0002648	Abnormality of calvarial morphology
OMIM:615272	FANCC	2176	HP:0004322	Short stature
OMIM:615272	FANCC	2176	HP:0005528	Bone marrow hypocellularity
OMIM:615272	FANCC	2176	HP:0005912	Biliary atresia
OMIM:615272	FANCC	2176	HP:0000007	Autosomal recessive inheritance
OMIM:615272	FANCC	2176	HP:0000369	Low-set ears
OMIM:615272	FANCC	2176	HP:0003593	Infantile onset
OMIM:615272	FANCC	2176	HP:0000252	Microcephaly
OMIM:615272	FANCC	2176	HP:0003812	Phenotypic variability
OMIM:615272	FANCC	2176	HP:0002032	Esophageal atresia
OMIM:615272	FANCC	2176	HP:0009777	Absent thumb
OMIM:615272	FANCD2	2177	HP:0004322	Short stature
OMIM:615272	FANCD2	2177	HP:0005528	Bone marrow hypocellularity
OMIM:615272	FANCD2	2177	HP:0005912	Biliary atresia
OMIM:615272	FANCD2	2177	HP:0000007	Autosomal recessive inheritance
OMIM:615272	FANCD2	2177	HP:0000369	Low-set ears
OMIM:615272	FANCD2	2177	HP:0003593	Infantile onset
OMIM:615272	FANCD2	2177	HP:0000252	Microcephaly
OMIM:615272	FANCD2	2177	HP:0003812	Phenotypic variability
OMIM:615272	FANCD2	2177	HP:0002032	Esophageal atresia
OMIM:615272	FANCD2	2177	HP:0009777	Absent thumb
OMIM:615272	FANCM	57697	HP:0004322	Short stature
OMIM:615272	FANCM	57697	HP:0005528	Bone marrow hypocellularity
OMIM:615272	FANCM	57697	HP:0005912	Biliary atresia
OMIM:615272	FANCM	57697	HP:0000007	Autosomal recessive inheritance
OMIM:615272	FANCM	57697	HP:0000369	Low-set ears
OMIM:615272	FANCM	57697	HP:0003593	Infantile onset
OMIM:615272	FANCM	57697	HP:0000252	Microcephaly
OMIM:615272	FANCM	57697	HP:0003812	Phenotypic variability
OMIM:615272	FANCM	57697	HP:0002032	Esophageal atresia
OMIM:615272	FANCM	57697	HP:0009777	Absent thumb
OMIM:615272	RAD51C	5889	HP:0004322	Short stature
OMIM:615272	RAD51C	5889	HP:0005528	Bone marrow hypocellularity
OMIM:615272	RAD51C	5889	HP:0005912	Biliary atresia
OMIM:615272	RAD51C	5889	HP:0000007	Autosomal recessive inheritance
OMIM:615272	RAD51C	5889	HP:0000369	Low-set ears
OMIM:615272	RAD51C	5889	HP:0003593	Infantile onset
OMIM:615272	RAD51C	5889	HP:0000252	Microcephaly
OMIM:615272	RAD51C	5889	HP:0003812	Phenotypic variability
OMIM:615272	RAD51C	5889	HP:0002032	Esophageal atresia
OMIM:615272	RAD51C	5889	HP:0009777	Absent thumb
OMIM:615272	UBE2T	29089	HP:0004322	Short stature
OMIM:615272	UBE2T	29089	HP:0005528	Bone marrow hypocellularity
OMIM:615272	UBE2T	29089	HP:0005912	Biliary atresia
OMIM:615272	UBE2T	29089	HP:0000007	Autosomal recessive inheritance
OMIM:615272	UBE2T	29089	HP:0000369	Low-set ears
OMIM:615272	UBE2T	29089	HP:0003593	Infantile onset
OMIM:615272	UBE2T	29089	HP:0000252	Microcephaly
OMIM:615272	UBE2T	29089	HP:0003812	Phenotypic variability
OMIM:615272	UBE2T	29089	HP:0002032	Esophageal atresia
OMIM:615272	UBE2T	29089	HP:0009777	Absent thumb
OMIM:615272	FANCE	2178	HP:0004322	Short stature
OMIM:615272	FANCE	2178	HP:0005528	Bone marrow hypocellularity
OMIM:615272	FANCE	2178	HP:0005912	Biliary atresia
OMIM:615272	FANCE	2178	HP:0000007	Autosomal recessive inheritance
OMIM:615272	FANCE	2178	HP:0000369	Low-set ears
OMIM:615272	FANCE	2178	HP:0003593	Infantile onset
OMIM:615272	FANCE	2178	HP:0000252	Microcephaly
OMIM:615272	FANCE	2178	HP:0003812	Phenotypic variability
OMIM:615272	FANCE	2178	HP:0002032	Esophageal atresia
OMIM:615272	FANCE	2178	HP:0009777	Absent thumb
OMIM:615272	BRCA2	675	HP:0004322	Short stature
OMIM:615272	BRCA2	675	HP:0005528	Bone marrow hypocellularity
OMIM:615272	BRCA2	675	HP:0005912	Biliary atresia
OMIM:615272	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:615272	BRCA2	675	HP:0000369	Low-set ears
OMIM:615272	BRCA2	675	HP:0003593	Infantile onset
OMIM:615272	BRCA2	675	HP:0000252	Microcephaly
OMIM:615272	BRCA2	675	HP:0003812	Phenotypic variability
OMIM:615272	BRCA2	675	HP:0002032	Esophageal atresia
OMIM:615272	BRCA2	675	HP:0009777	Absent thumb
OMIM:615272	FANCB	2187	HP:0004322	Short stature
OMIM:615272	FANCB	2187	HP:0005528	Bone marrow hypocellularity
OMIM:615272	FANCB	2187	HP:0005912	Biliary atresia
OMIM:615272	FANCB	2187	HP:0000007	Autosomal recessive inheritance
OMIM:615272	FANCB	2187	HP:0000369	Low-set ears
OMIM:615272	FANCB	2187	HP:0003593	Infantile onset
OMIM:615272	FANCB	2187	HP:0000252	Microcephaly
OMIM:615272	FANCB	2187	HP:0003812	Phenotypic variability
OMIM:615272	FANCB	2187	HP:0002032	Esophageal atresia
OMIM:615272	FANCB	2187	HP:0009777	Absent thumb
OMIM:615272	FANCF	2188	HP:0004322	Short stature
OMIM:615272	FANCF	2188	HP:0005528	Bone marrow hypocellularity
OMIM:615272	FANCF	2188	HP:0005912	Biliary atresia
OMIM:615272	FANCF	2188	HP:0000007	Autosomal recessive inheritance
OMIM:615272	FANCF	2188	HP:0000369	Low-set ears
OMIM:615272	FANCF	2188	HP:0003593	Infantile onset
OMIM:615272	FANCF	2188	HP:0000252	Microcephaly
OMIM:615272	FANCF	2188	HP:0003812	Phenotypic variability
OMIM:615272	FANCF	2188	HP:0002032	Esophageal atresia
OMIM:615272	FANCF	2188	HP:0009777	Absent thumb
OMIM:615272	FANCG	2189	HP:0004322	Short stature
OMIM:615272	FANCG	2189	HP:0005528	Bone marrow hypocellularity
OMIM:615272	FANCG	2189	HP:0005912	Biliary atresia
OMIM:615272	FANCG	2189	HP:0000007	Autosomal recessive inheritance
OMIM:615272	FANCG	2189	HP:0000369	Low-set ears
OMIM:615272	FANCG	2189	HP:0003593	Infantile onset
OMIM:615272	FANCG	2189	HP:0000252	Microcephaly
OMIM:615272	FANCG	2189	HP:0003812	Phenotypic variability
OMIM:615272	FANCG	2189	HP:0002032	Esophageal atresia
OMIM:615272	FANCG	2189	HP:0009777	Absent thumb
OMIM:615272	FANCI	55215	HP:0004322	Short stature
OMIM:615272	FANCI	55215	HP:0005528	Bone marrow hypocellularity
OMIM:615272	FANCI	55215	HP:0005912	Biliary atresia
OMIM:615272	FANCI	55215	HP:0000007	Autosomal recessive inheritance
OMIM:615272	FANCI	55215	HP:0000369	Low-set ears
OMIM:615272	FANCI	55215	HP:0003593	Infantile onset
OMIM:615272	FANCI	55215	HP:0000252	Microcephaly
OMIM:615272	FANCI	55215	HP:0003812	Phenotypic variability
OMIM:615272	FANCI	55215	HP:0002032	Esophageal atresia
OMIM:615272	FANCI	55215	HP:0009777	Absent thumb
OMIM:615272	FANCL	55120	HP:0004322	Short stature
OMIM:615272	FANCL	55120	HP:0005528	Bone marrow hypocellularity
OMIM:615272	FANCL	55120	HP:0005912	Biliary atresia
OMIM:615272	FANCL	55120	HP:0000007	Autosomal recessive inheritance
OMIM:615272	FANCL	55120	HP:0000369	Low-set ears
OMIM:615272	FANCL	55120	HP:0003593	Infantile onset
OMIM:615272	FANCL	55120	HP:0000252	Microcephaly
OMIM:615272	FANCL	55120	HP:0003812	Phenotypic variability
OMIM:615272	FANCL	55120	HP:0002032	Esophageal atresia
OMIM:615272	FANCL	55120	HP:0009777	Absent thumb
OMIM:615272	PALB2	79728	HP:0004322	Short stature
OMIM:615272	PALB2	79728	HP:0005528	Bone marrow hypocellularity
OMIM:615272	PALB2	79728	HP:0005912	Biliary atresia
OMIM:615272	PALB2	79728	HP:0000007	Autosomal recessive inheritance
OMIM:615272	PALB2	79728	HP:0000369	Low-set ears
OMIM:615272	PALB2	79728	HP:0003593	Infantile onset
OMIM:615272	PALB2	79728	HP:0000252	Microcephaly
OMIM:615272	PALB2	79728	HP:0003812	Phenotypic variability
OMIM:615272	PALB2	79728	HP:0002032	Esophageal atresia
OMIM:615272	PALB2	79728	HP:0009777	Absent thumb
OMIM:615272	SLX4	84464	HP:0004322	Short stature
OMIM:615272	SLX4	84464	HP:0005528	Bone marrow hypocellularity
OMIM:615272	SLX4	84464	HP:0005912	Biliary atresia
OMIM:615272	SLX4	84464	HP:0000007	Autosomal recessive inheritance
OMIM:615272	SLX4	84464	HP:0000369	Low-set ears
OMIM:615272	SLX4	84464	HP:0003593	Infantile onset
OMIM:615272	SLX4	84464	HP:0000252	Microcephaly
OMIM:615272	SLX4	84464	HP:0003812	Phenotypic variability
OMIM:615272	SLX4	84464	HP:0002032	Esophageal atresia
OMIM:615272	SLX4	84464	HP:0009777	Absent thumb
OMIM:615272	BRIP1	83990	HP:0004322	Short stature
OMIM:615272	BRIP1	83990	HP:0005528	Bone marrow hypocellularity
OMIM:615272	BRIP1	83990	HP:0005912	Biliary atresia
OMIM:615272	BRIP1	83990	HP:0000007	Autosomal recessive inheritance
OMIM:615272	BRIP1	83990	HP:0000369	Low-set ears
OMIM:615272	BRIP1	83990	HP:0003593	Infantile onset
OMIM:615272	BRIP1	83990	HP:0000252	Microcephaly
OMIM:615272	BRIP1	83990	HP:0003812	Phenotypic variability
OMIM:615272	BRIP1	83990	HP:0002032	Esophageal atresia
OMIM:615272	BRIP1	83990	HP:0009777	Absent thumb
OMIM:615272	ERCC4	2072	HP:0004322	Short stature
OMIM:615272	ERCC4	2072	HP:0005528	Bone marrow hypocellularity
OMIM:615272	ERCC4	2072	HP:0005912	Biliary atresia
OMIM:615272	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:615272	ERCC4	2072	HP:0000369	Low-set ears
OMIM:615272	ERCC4	2072	HP:0003593	Infantile onset
OMIM:615272	ERCC4	2072	HP:0000252	Microcephaly
OMIM:615272	ERCC4	2072	HP:0003812	Phenotypic variability
OMIM:615272	ERCC4	2072	HP:0002032	Esophageal atresia
OMIM:615272	ERCC4	2072	HP:0009777	Absent thumb
OMIM:615272	FANCA	2175	HP:0004322	Short stature
OMIM:615272	FANCA	2175	HP:0005528	Bone marrow hypocellularity
OMIM:615272	FANCA	2175	HP:0005912	Biliary atresia
OMIM:615272	FANCA	2175	HP:0000007	Autosomal recessive inheritance
OMIM:615272	FANCA	2175	HP:0000369	Low-set ears
OMIM:615272	FANCA	2175	HP:0003593	Infantile onset
OMIM:615272	FANCA	2175	HP:0000252	Microcephaly
OMIM:615272	FANCA	2175	HP:0003812	Phenotypic variability
OMIM:615272	FANCA	2175	HP:0002032	Esophageal atresia
OMIM:615272	FANCA	2175	HP:0009777	Absent thumb
ORPHANET:93259	FGFR2	2263	HP:0001376	Limitation of joint mobility
ORPHANET:93259	FGFR2	2263	HP:0100543	Cognitive impairment
ORPHANET:93259	FGFR2	2263	HP:0000272	Malar flattening
ORPHANET:93259	FGFR2	2263	HP:0010109	Short hallux
ORPHANET:93259	FGFR2	2263	HP:0001250	Seizures
ORPHANET:93259	FGFR2	2263	HP:0003196	Short nose
ORPHANET:93259	FGFR2	2263	HP:0002308	Arnold-Chiari malformation
ORPHANET:93259	FGFR2	2263	HP:0002093	Respiratory insufficiency
ORPHANET:93259	FGFR2	2263	HP:0000348	High forehead
ORPHANET:93259	FGFR2	2263	HP:0000505	Visual impairment
ORPHANET:93259	FGFR2	2263	HP:0001841	Preaxial foot polydactyly
ORPHANET:93259	FGFR2	2263	HP:0000175	Cleft palate
ORPHANET:93259	FGFR2	2263	HP:0000413	Atresia of the external auditory canal
ORPHANET:93259	FGFR2	2263	HP:0005280	Depressed nasal bridge
ORPHANET:93259	FGFR2	2263	HP:0006101	Finger syndactyly
ORPHANET:93259	FGFR2	2263	HP:0001601	Laryngomalacia
ORPHANET:93259	FGFR2	2263	HP:0001770	Toe syndactyly
ORPHANET:93259	FGFR2	2263	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHANET:93259	FGFR2	2263	HP:0000520	Proptosis
ORPHANET:93259	FGFR2	2263	HP:0002566	Intestinal malrotation
ORPHANET:93259	FGFR2	2263	HP:0100589	Urogenital fistula
ORPHANET:93259	FGFR2	2263	HP:0002779	Tracheomalacia
ORPHANET:93259	FGFR2	2263	HP:0000316	Hypertelorism
ORPHANET:93259	FGFR2	2263	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:93259	FGFR2	2263	HP:0009602	Abnormality of thumb phalanx
ORPHANET:93259	FGFR2	2263	HP:0000453	Choanal atresia
ORPHANET:93259	FGFR2	2263	HP:0001156	Brachydactyly syndrome
OMIM:607831	GDAP1	54332	HP:0003701	Proximal muscle weakness
OMIM:607831	GDAP1	54332	HP:0003593	Infantile onset
OMIM:607831	GDAP1	54332	HP:0001171	Split hand
OMIM:607831	GDAP1	54332	HP:0002751	Kyphoscoliosis
OMIM:607831	GDAP1	54332	HP:0002460	Distal muscle weakness
OMIM:607831	GDAP1	54332	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:607831	GDAP1	54332	HP:0003431	Decreased motor nerve conduction velocity
OMIM:607831	GDAP1	54332	HP:0003693	Distal amyotrophy
OMIM:607831	GDAP1	54332	HP:0001762	Talipes equinovarus
OMIM:607831	GDAP1	54332	HP:0002936	Distal sensory impairment
OMIM:607831	GDAP1	54332	HP:0000006	Autosomal dominant inheritance
OMIM:607831	GDAP1	54332	HP:0000007	Autosomal recessive inheritance
OMIM:607831	GDAP1	54332	HP:0001284	Areflexia
OMIM:105835	GDF5	8200	HP:0000684	Delayed eruption of teeth
OMIM:105835	GDF5	8200	HP:0004322	Short stature
OMIM:105835	GDF5	8200	HP:0002750	Delayed skeletal maturation
OMIM:105835	GDF5	8200	HP:0001216	Delayed ossification of carpal bones
OMIM:105835	GDF5	8200	HP:0003272	Abnormality of the hip bone
OMIM:600972	SLC26A2	1836	HP:0000774	Narrow chest
OMIM:600972	SLC26A2	1836	HP:0001537	Umbilical hernia
OMIM:600972	SLC26A2	1836	HP:0000772	Abnormality of the ribs
OMIM:600972	SLC26A2	1836	HP:0000946	Hypoplastic ilia
OMIM:600972	SLC26A2	1836	HP:0001156	Brachydactyly syndrome
OMIM:600972	SLC26A2	1836	HP:0000256	Macrocephaly
OMIM:600972	SLC26A2	1836	HP:0002983	Micromelia
OMIM:600972	SLC26A2	1836	HP:0002093	Respiratory insufficiency
OMIM:600972	SLC26A2	1836	HP:0000023	Inguinal hernia
OMIM:600972	SLC26A2	1836	HP:0000272	Malar flattening
OMIM:600972	SLC26A2	1836	HP:0000773	Short ribs
OMIM:600972	SLC26A2	1836	HP:0000474	Thickened nuchal skin fold
OMIM:600972	SLC26A2	1836	HP:0000463	Anteverted nares
OMIM:600972	SLC26A2	1836	HP:0000347	Micrognathia
OMIM:600972	SLC26A2	1836	HP:0002652	Skeletal dysplasia
OMIM:600972	SLC26A2	1836	HP:0001789	Hydrops fetalis
OMIM:600972	SLC26A2	1836	HP:0001561	Polyhydramnios
OMIM:600972	SLC26A2	1836	HP:0003196	Short nose
OMIM:600972	SLC26A2	1836	HP:0010306	Short thorax
OMIM:600972	SLC26A2	1836	HP:0000476	Cystic hygroma
OMIM:600972	SLC26A2	1836	HP:0000343	Long philtrum
OMIM:600972	SLC26A2	1836	HP:0000969	Edema
OMIM:600972	SLC26A2	1836	HP:0004348	Abnormality of bone mineral density
OMIM:600972	SLC26A2	1836	HP:0000007	Autosomal recessive inheritance
OMIM:600972	SLC26A2	1836	HP:0002007	Frontal bossing
OMIM:600972	SLC26A2	1836	HP:0003826	Stillbirth
OMIM:600972	SLC26A2	1836	HP:0012368	Flat face
OMIM:600972	SLC26A2	1836	HP:0000470	Short neck
OMIM:600972	SLC26A2	1836	HP:0001831	Short toe
OMIM:600972	SLC26A2	1836	HP:0003270	Abdominal distention
OMIM:600972	SLC26A2	1836	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:600972	SLC26A2	1836	HP:0004322	Short stature
OMIM:600972	SLC26A2	1836	HP:0001883	Talipes
OMIM:600972	SLC26A2	1836	HP:0004599	Absent or minimally ossified vertebral bodies
ORPHANET:1215	OPA1	4976	HP:0000407	Sensorineural hearing impairment
ORPHANET:1215	OPA1	4976	HP:0001315	Reduced tendon reflexes
ORPHANET:1215	OPA1	4976	HP:0007328	Impaired pain sensation
ORPHANET:1215	OPA1	4976	HP:0000486	Strabismus
ORPHANET:1215	OPA1	4976	HP:0000649	Abnormality of visual evoked potentials
ORPHANET:1215	OPA1	4976	HP:0000762	Decreased nerve conduction velocity
ORPHANET:1215	OPA1	4976	HP:0000551	Abnormality of color vision
ORPHANET:1215	OPA1	4976	HP:0000505	Visual impairment
ORPHANET:1215	OPA1	4976	HP:0000648	Optic atrophy
ORPHANET:2050	P4HB	5034	HP:0000494	Downslanted palpebral fissures
ORPHANET:2050	P4HB	5034	HP:0000592	Blue sclerae
ORPHANET:2050	P4HB	5034	HP:0002757	Recurrent fractures
ORPHANET:2050	P4HB	5034	HP:0004349	Reduced bone mineral density
ORPHANET:2050	P4HB	5034	HP:0002808	Kyphosis
ORPHANET:2050	P4HB	5034	HP:0000772	Abnormality of the ribs
ORPHANET:2050	P4HB	5034	HP:0002007	Frontal bossing
ORPHANET:2050	P4HB	5034	HP:0000684	Delayed eruption of teeth
ORPHANET:2050	P4HB	5034	HP:0004322	Short stature
ORPHANET:2050	P4HB	5034	HP:0001608	Abnormality of the voice
ORPHANET:2050	P4HB	5034	HP:0000347	Micrognathia
ORPHANET:2050	P4HB	5034	HP:0001382	Joint hypermobility
ORPHANET:2050	P4HB	5034	HP:0002652	Skeletal dysplasia
ORPHANET:2050	P4HB	5034	HP:0000944	Abnormality of the metaphyses
ORPHANET:2050	P4HB	5034	HP:0000520	Proptosis
ORPHANET:2050	P4HB	5034	HP:0002645	Wormian bones
ORPHANET:2050	P4HB	5034	HP:0100543	Cognitive impairment
ORPHANET:2050	P4HB	5034	HP:0001511	Intrauterine growth retardation
ORPHANET:2050	P4HB	5034	HP:0006487	Bowing of the long bones
ORPHANET:2050	P4HB	5034	HP:0010299	Abnormality of dentin
ORPHANET:2050	P4HB	5034	HP:0001252	Muscular hypotonia
ORPHANET:2050	P4HB	5034	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2050	P4HB	5034	HP:0002650	Scoliosis
ORPHANET:2050	P4HB	5034	HP:0000272	Malar flattening
ORPHANET:2050	SEC24D	9871	HP:0000494	Downslanted palpebral fissures
ORPHANET:2050	SEC24D	9871	HP:0000592	Blue sclerae
ORPHANET:2050	SEC24D	9871	HP:0002757	Recurrent fractures
ORPHANET:2050	SEC24D	9871	HP:0004349	Reduced bone mineral density
ORPHANET:2050	SEC24D	9871	HP:0002808	Kyphosis
ORPHANET:2050	SEC24D	9871	HP:0000772	Abnormality of the ribs
ORPHANET:2050	SEC24D	9871	HP:0002007	Frontal bossing
ORPHANET:2050	SEC24D	9871	HP:0000684	Delayed eruption of teeth
ORPHANET:2050	SEC24D	9871	HP:0004322	Short stature
ORPHANET:2050	SEC24D	9871	HP:0001608	Abnormality of the voice
ORPHANET:2050	SEC24D	9871	HP:0000347	Micrognathia
ORPHANET:2050	SEC24D	9871	HP:0001382	Joint hypermobility
ORPHANET:2050	SEC24D	9871	HP:0002652	Skeletal dysplasia
ORPHANET:2050	SEC24D	9871	HP:0000944	Abnormality of the metaphyses
ORPHANET:2050	SEC24D	9871	HP:0000520	Proptosis
ORPHANET:2050	SEC24D	9871	HP:0002645	Wormian bones
ORPHANET:2050	SEC24D	9871	HP:0100543	Cognitive impairment
ORPHANET:2050	SEC24D	9871	HP:0001511	Intrauterine growth retardation
ORPHANET:2050	SEC24D	9871	HP:0006487	Bowing of the long bones
ORPHANET:2050	SEC24D	9871	HP:0010299	Abnormality of dentin
ORPHANET:2050	SEC24D	9871	HP:0001252	Muscular hypotonia
ORPHANET:2050	SEC24D	9871	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2050	SEC24D	9871	HP:0002650	Scoliosis
ORPHANET:2050	SEC24D	9871	HP:0000272	Malar flattening
OMIM:180000	COL4A1	1282	HP:0000572	Visual loss
OMIM:180000	COL4A1	1282	HP:0001136	Retinal arteriolar tortuosity
OMIM:180000	COL4A1	1282	HP:0000006	Autosomal dominant inheritance
OMIM:264420	TIMP3	7078	HP:0000545	Myopia
OMIM:264420	TIMP3	7078	HP:0000007	Autosomal recessive inheritance
OMIM:264420	TIMP3	7078	HP:0000529	Progressive visual loss
OMIM:264420	TIMP3	7078	HP:0007641	Dyschromatopsia
OMIM:176100	HFE	3077	HP:0002219	Facial hypertrichosis
OMIM:176100	HFE	3077	HP:0001030	Fragile skin
OMIM:176100	HFE	3077	HP:0001806	Onycholysis
OMIM:176100	HFE	3077	HP:0001596	Alopecia
OMIM:176100	HFE	3077	HP:0000006	Autosomal dominant inheritance
OMIM:176100	HFE	3077	HP:0001878	Hemolytic anemia
OMIM:176100	HFE	3077	HP:0000963	Thin skin
OMIM:176100	HFE	3077	HP:0001394	Cirrhosis
OMIM:176100	HFE	3077	HP:0000992	Cutaneous photosensitivity
OMIM:176100	HFE	3077	HP:0005586	Hyperpigmentation in sun-exposed areas
OMIM:176100	UROD	7389	HP:0002219	Facial hypertrichosis
OMIM:176100	UROD	7389	HP:0001030	Fragile skin
OMIM:176100	UROD	7389	HP:0001806	Onycholysis
OMIM:176100	UROD	7389	HP:0001596	Alopecia
OMIM:176100	UROD	7389	HP:0000006	Autosomal dominant inheritance
OMIM:176100	UROD	7389	HP:0001878	Hemolytic anemia
OMIM:176100	UROD	7389	HP:0000963	Thin skin
OMIM:176100	UROD	7389	HP:0001394	Cirrhosis
OMIM:176100	UROD	7389	HP:0000992	Cutaneous photosensitivity
OMIM:176100	UROD	7389	HP:0005586	Hyperpigmentation in sun-exposed areas
OMIM:193670	CXCR4	7852	HP:0002788	Recurrent upper respiratory tract infections
OMIM:193670	CXCR4	7852	HP:0001875	Neutropenia
OMIM:193670	CXCR4	7852	HP:0200043	Verrucae
OMIM:193670	CXCR4	7852	HP:0004315	IgG deficiency
OMIM:193670	CXCR4	7852	HP:0000008	Abnormality of female internal genitalia
OMIM:193670	CXCR4	7852	HP:0003593	Infantile onset
OMIM:193670	CXCR4	7852	HP:0000055	Abnormality of female external genitalia
OMIM:193670	CXCR4	7852	HP:0000006	Autosomal dominant inheritance
OMIM:193670	CXCR4	7852	HP:0005561	Abnormality of bone marrow cell morphology
OMIM:266500	PHYH	5264	HP:0002922	Increased CSF protein
OMIM:266500	PHYH	5264	HP:0000616	Miosis
OMIM:266500	PHYH	5264	HP:0000407	Sensorineural hearing impairment
OMIM:266500	PHYH	5264	HP:0000639	Nystagmus
OMIM:266500	PHYH	5264	HP:0007141	Sensorimotor neuropathy
OMIM:266500	PHYH	5264	HP:0001265	Hyporeflexia
OMIM:266500	PHYH	5264	HP:0003474	Sensory impairment
OMIM:266500	PHYH	5264	HP:0008064	Ichthyosis
OMIM:266500	PHYH	5264	HP:0000546	Retinal degeneration
OMIM:266500	PHYH	5264	HP:0001635	Congestive heart failure
OMIM:266500	PHYH	5264	HP:0000007	Autosomal recessive inheritance
OMIM:266500	PHYH	5264	HP:0001640	Cardiomegaly
OMIM:266500	PHYH	5264	HP:0012211	Abnormal renal physiology
OMIM:266500	PHYH	5264	HP:0000510	Rod-cone dystrophy
OMIM:266500	PHYH	5264	HP:0011675	Arrhythmia
OMIM:266500	PHYH	5264	HP:0000662	Nyctalopia
OMIM:266500	PHYH	5264	HP:0001638	Cardiomyopathy
OMIM:266500	PHYH	5264	HP:0000458	Anosmia
OMIM:266500	PHYH	5264	HP:0001251	Ataxia
OMIM:266500	PHYH	5264	HP:0000508	Ptosis
OMIM:266500	PHYH	5264	HP:0001761	Pes cavus
OMIM:266500	PHYH	5264	HP:0000518	Cataract
OMIM:266500	PHYH	5264	HP:0003690	Limb muscle weakness
OMIM:266500	PEX7	5191	HP:0002922	Increased CSF protein
OMIM:266500	PEX7	5191	HP:0000616	Miosis
OMIM:266500	PEX7	5191	HP:0000407	Sensorineural hearing impairment
OMIM:266500	PEX7	5191	HP:0000639	Nystagmus
OMIM:266500	PEX7	5191	HP:0007141	Sensorimotor neuropathy
OMIM:266500	PEX7	5191	HP:0001265	Hyporeflexia
OMIM:266500	PEX7	5191	HP:0003474	Sensory impairment
OMIM:266500	PEX7	5191	HP:0008064	Ichthyosis
OMIM:266500	PEX7	5191	HP:0000546	Retinal degeneration
OMIM:266500	PEX7	5191	HP:0001635	Congestive heart failure
OMIM:266500	PEX7	5191	HP:0000007	Autosomal recessive inheritance
OMIM:266500	PEX7	5191	HP:0001640	Cardiomegaly
OMIM:266500	PEX7	5191	HP:0012211	Abnormal renal physiology
OMIM:266500	PEX7	5191	HP:0000510	Rod-cone dystrophy
OMIM:266500	PEX7	5191	HP:0011675	Arrhythmia
OMIM:266500	PEX7	5191	HP:0000662	Nyctalopia
OMIM:266500	PEX7	5191	HP:0001638	Cardiomyopathy
OMIM:266500	PEX7	5191	HP:0000458	Anosmia
OMIM:266500	PEX7	5191	HP:0001251	Ataxia
OMIM:266500	PEX7	5191	HP:0000508	Ptosis
OMIM:266500	PEX7	5191	HP:0001761	Pes cavus
OMIM:266500	PEX7	5191	HP:0000518	Cataract
OMIM:266500	PEX7	5191	HP:0003690	Limb muscle weakness
OMIM:611091	METTL23	124512	HP:0000319	Smooth philtrum
OMIM:611091	METTL23	124512	HP:0000601	Hypotelorism
OMIM:611091	METTL23	124512	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	METTL23	124512	HP:0000252	Microcephaly
OMIM:611091	METTL23	124512	HP:0000750	Delayed speech and language development
OMIM:611091	METTL23	124512	HP:0001260	Dysarthria
OMIM:611091	METTL23	124512	HP:0000276	Long face
OMIM:611091	METTL23	124512	HP:0000331	Short chin
OMIM:611091	METTL23	124512	HP:0000426	Prominent nasal bridge
OMIM:611091	METTL23	124512	HP:0001249	Intellectual disability
OMIM:611091	METTL23	124512	HP:0000486	Strabismus
OMIM:611091	METTL23	124512	HP:0001257	Spasticity
OMIM:611091	METTL23	124512	HP:0000581	Blepharophimosis
OMIM:611091	METTL23	124512	HP:0001518	Small for gestational age
OMIM:611091	METTL23	124512	HP:0000964	Eczema
OMIM:611091	METTL23	124512	HP:0001761	Pes cavus
OMIM:611091	METTL23	124512	HP:0000430	Underdeveloped nasal alae
OMIM:611091	METTL23	124512	HP:0000448	Prominent nose
OMIM:611091	METTL23	124512	HP:0008070	Sparse hair
OMIM:611091	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:611091	METTL23	124512	HP:0001347	Hyperreflexia
OMIM:611091	METTL23	124512	HP:0000431	Wide nasal bridge
OMIM:611091	METTL23	124512	HP:0000664	Synophrys
OMIM:611091	METTL23	124512	HP:0000574	Thick eyebrow
OMIM:611091	METTL23	124512	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	METTL23	124512	HP:0001771	Achilles tendon contracture
OMIM:611091	METTL23	124512	HP:0000506	Telecanthus
OMIM:611091	METTL23	124512	HP:0008897	Postnatal growth retardation
OMIM:611091	METTL23	124512	HP:0001250	Seizures
OMIM:611091	METTL23	124512	HP:0000322	Short philtrum
OMIM:611091	METTL23	124512	HP:0000316	Hypertelorism
OMIM:611091	METTL23	124512	HP:0001263	Global developmental delay
OMIM:611091	METTL23	124512	HP:0004322	Short stature
OMIM:611091	METTL23	124512	HP:0000275	Narrow face
OMIM:611091	CRADD	8738	HP:0000319	Smooth philtrum
OMIM:611091	CRADD	8738	HP:0000601	Hypotelorism
OMIM:611091	CRADD	8738	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	CRADD	8738	HP:0000252	Microcephaly
OMIM:611091	CRADD	8738	HP:0000750	Delayed speech and language development
OMIM:611091	CRADD	8738	HP:0001260	Dysarthria
OMIM:611091	CRADD	8738	HP:0000276	Long face
OMIM:611091	CRADD	8738	HP:0000331	Short chin
OMIM:611091	CRADD	8738	HP:0000426	Prominent nasal bridge
OMIM:611091	CRADD	8738	HP:0001249	Intellectual disability
OMIM:611091	CRADD	8738	HP:0000486	Strabismus
OMIM:611091	CRADD	8738	HP:0001257	Spasticity
OMIM:611091	CRADD	8738	HP:0000581	Blepharophimosis
OMIM:611091	CRADD	8738	HP:0001518	Small for gestational age
OMIM:611091	CRADD	8738	HP:0000964	Eczema
OMIM:611091	CRADD	8738	HP:0001761	Pes cavus
OMIM:611091	CRADD	8738	HP:0000430	Underdeveloped nasal alae
OMIM:611091	CRADD	8738	HP:0000448	Prominent nose
OMIM:611091	CRADD	8738	HP:0008070	Sparse hair
OMIM:611091	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:611091	CRADD	8738	HP:0001347	Hyperreflexia
OMIM:611091	CRADD	8738	HP:0000431	Wide nasal bridge
OMIM:611091	CRADD	8738	HP:0000664	Synophrys
OMIM:611091	CRADD	8738	HP:0000574	Thick eyebrow
OMIM:611091	CRADD	8738	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	CRADD	8738	HP:0001771	Achilles tendon contracture
OMIM:611091	CRADD	8738	HP:0000506	Telecanthus
OMIM:611091	CRADD	8738	HP:0008897	Postnatal growth retardation
OMIM:611091	CRADD	8738	HP:0001250	Seizures
OMIM:611091	CRADD	8738	HP:0000322	Short philtrum
OMIM:611091	CRADD	8738	HP:0000316	Hypertelorism
OMIM:611091	CRADD	8738	HP:0001263	Global developmental delay
OMIM:611091	CRADD	8738	HP:0004322	Short stature
OMIM:611091	CRADD	8738	HP:0000275	Narrow face
OMIM:611091	NSUN2	54888	HP:0000319	Smooth philtrum
OMIM:611091	NSUN2	54888	HP:0000601	Hypotelorism
OMIM:611091	NSUN2	54888	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	NSUN2	54888	HP:0000252	Microcephaly
OMIM:611091	NSUN2	54888	HP:0000750	Delayed speech and language development
OMIM:611091	NSUN2	54888	HP:0001260	Dysarthria
OMIM:611091	NSUN2	54888	HP:0000276	Long face
OMIM:611091	NSUN2	54888	HP:0000331	Short chin
OMIM:611091	NSUN2	54888	HP:0000426	Prominent nasal bridge
OMIM:611091	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:611091	NSUN2	54888	HP:0000486	Strabismus
OMIM:611091	NSUN2	54888	HP:0001257	Spasticity
OMIM:611091	NSUN2	54888	HP:0000581	Blepharophimosis
OMIM:611091	NSUN2	54888	HP:0001518	Small for gestational age
OMIM:611091	NSUN2	54888	HP:0000964	Eczema
OMIM:611091	NSUN2	54888	HP:0001761	Pes cavus
OMIM:611091	NSUN2	54888	HP:0000430	Underdeveloped nasal alae
OMIM:611091	NSUN2	54888	HP:0000448	Prominent nose
OMIM:611091	NSUN2	54888	HP:0008070	Sparse hair
OMIM:611091	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:611091	NSUN2	54888	HP:0001347	Hyperreflexia
OMIM:611091	NSUN2	54888	HP:0000431	Wide nasal bridge
OMIM:611091	NSUN2	54888	HP:0000664	Synophrys
OMIM:611091	NSUN2	54888	HP:0000574	Thick eyebrow
OMIM:611091	NSUN2	54888	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	NSUN2	54888	HP:0001771	Achilles tendon contracture
OMIM:611091	NSUN2	54888	HP:0000506	Telecanthus
OMIM:611091	NSUN2	54888	HP:0008897	Postnatal growth retardation
OMIM:611091	NSUN2	54888	HP:0001250	Seizures
OMIM:611091	NSUN2	54888	HP:0000322	Short philtrum
OMIM:611091	NSUN2	54888	HP:0000316	Hypertelorism
OMIM:611091	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:611091	NSUN2	54888	HP:0004322	Short stature
OMIM:611091	NSUN2	54888	HP:0000275	Narrow face
OMIM:611091	FMN2	56776	HP:0000319	Smooth philtrum
OMIM:611091	FMN2	56776	HP:0000601	Hypotelorism
OMIM:611091	FMN2	56776	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	FMN2	56776	HP:0000252	Microcephaly
OMIM:611091	FMN2	56776	HP:0000750	Delayed speech and language development
OMIM:611091	FMN2	56776	HP:0001260	Dysarthria
OMIM:611091	FMN2	56776	HP:0000276	Long face
OMIM:611091	FMN2	56776	HP:0000331	Short chin
OMIM:611091	FMN2	56776	HP:0000426	Prominent nasal bridge
OMIM:611091	FMN2	56776	HP:0001249	Intellectual disability
OMIM:611091	FMN2	56776	HP:0000486	Strabismus
OMIM:611091	FMN2	56776	HP:0001257	Spasticity
OMIM:611091	FMN2	56776	HP:0000581	Blepharophimosis
OMIM:611091	FMN2	56776	HP:0001518	Small for gestational age
OMIM:611091	FMN2	56776	HP:0000964	Eczema
OMIM:611091	FMN2	56776	HP:0001761	Pes cavus
OMIM:611091	FMN2	56776	HP:0000430	Underdeveloped nasal alae
OMIM:611091	FMN2	56776	HP:0000448	Prominent nose
OMIM:611091	FMN2	56776	HP:0008070	Sparse hair
OMIM:611091	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:611091	FMN2	56776	HP:0001347	Hyperreflexia
OMIM:611091	FMN2	56776	HP:0000431	Wide nasal bridge
OMIM:611091	FMN2	56776	HP:0000664	Synophrys
OMIM:611091	FMN2	56776	HP:0000574	Thick eyebrow
OMIM:611091	FMN2	56776	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	FMN2	56776	HP:0001771	Achilles tendon contracture
OMIM:611091	FMN2	56776	HP:0000506	Telecanthus
OMIM:611091	FMN2	56776	HP:0008897	Postnatal growth retardation
OMIM:611091	FMN2	56776	HP:0001250	Seizures
OMIM:611091	FMN2	56776	HP:0000322	Short philtrum
OMIM:611091	FMN2	56776	HP:0000316	Hypertelorism
OMIM:611091	FMN2	56776	HP:0001263	Global developmental delay
OMIM:611091	FMN2	56776	HP:0004322	Short stature
OMIM:611091	FMN2	56776	HP:0000275	Narrow face
OMIM:611091	CLIP1	6249	HP:0000319	Smooth philtrum
OMIM:611091	CLIP1	6249	HP:0000601	Hypotelorism
OMIM:611091	CLIP1	6249	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	CLIP1	6249	HP:0000252	Microcephaly
OMIM:611091	CLIP1	6249	HP:0000750	Delayed speech and language development
OMIM:611091	CLIP1	6249	HP:0001260	Dysarthria
OMIM:611091	CLIP1	6249	HP:0000276	Long face
OMIM:611091	CLIP1	6249	HP:0000331	Short chin
OMIM:611091	CLIP1	6249	HP:0000426	Prominent nasal bridge
OMIM:611091	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:611091	CLIP1	6249	HP:0000486	Strabismus
OMIM:611091	CLIP1	6249	HP:0001257	Spasticity
OMIM:611091	CLIP1	6249	HP:0000581	Blepharophimosis
OMIM:611091	CLIP1	6249	HP:0001518	Small for gestational age
OMIM:611091	CLIP1	6249	HP:0000964	Eczema
OMIM:611091	CLIP1	6249	HP:0001761	Pes cavus
OMIM:611091	CLIP1	6249	HP:0000430	Underdeveloped nasal alae
OMIM:611091	CLIP1	6249	HP:0000448	Prominent nose
OMIM:611091	CLIP1	6249	HP:0008070	Sparse hair
OMIM:611091	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:611091	CLIP1	6249	HP:0001347	Hyperreflexia
OMIM:611091	CLIP1	6249	HP:0000431	Wide nasal bridge
OMIM:611091	CLIP1	6249	HP:0000664	Synophrys
OMIM:611091	CLIP1	6249	HP:0000574	Thick eyebrow
OMIM:611091	CLIP1	6249	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	CLIP1	6249	HP:0001771	Achilles tendon contracture
OMIM:611091	CLIP1	6249	HP:0000506	Telecanthus
OMIM:611091	CLIP1	6249	HP:0008897	Postnatal growth retardation
OMIM:611091	CLIP1	6249	HP:0001250	Seizures
OMIM:611091	CLIP1	6249	HP:0000322	Short philtrum
OMIM:611091	CLIP1	6249	HP:0000316	Hypertelorism
OMIM:611091	CLIP1	6249	HP:0001263	Global developmental delay
OMIM:611091	CLIP1	6249	HP:0004322	Short stature
OMIM:611091	CLIP1	6249	HP:0000275	Narrow face
OMIM:611091	ZC3H14	79882	HP:0000319	Smooth philtrum
OMIM:611091	ZC3H14	79882	HP:0000601	Hypotelorism
OMIM:611091	ZC3H14	79882	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	ZC3H14	79882	HP:0000252	Microcephaly
OMIM:611091	ZC3H14	79882	HP:0000750	Delayed speech and language development
OMIM:611091	ZC3H14	79882	HP:0001260	Dysarthria
OMIM:611091	ZC3H14	79882	HP:0000276	Long face
OMIM:611091	ZC3H14	79882	HP:0000331	Short chin
OMIM:611091	ZC3H14	79882	HP:0000426	Prominent nasal bridge
OMIM:611091	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:611091	ZC3H14	79882	HP:0000486	Strabismus
OMIM:611091	ZC3H14	79882	HP:0001257	Spasticity
OMIM:611091	ZC3H14	79882	HP:0000581	Blepharophimosis
OMIM:611091	ZC3H14	79882	HP:0001518	Small for gestational age
OMIM:611091	ZC3H14	79882	HP:0000964	Eczema
OMIM:611091	ZC3H14	79882	HP:0001761	Pes cavus
OMIM:611091	ZC3H14	79882	HP:0000430	Underdeveloped nasal alae
OMIM:611091	ZC3H14	79882	HP:0000448	Prominent nose
OMIM:611091	ZC3H14	79882	HP:0008070	Sparse hair
OMIM:611091	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:611091	ZC3H14	79882	HP:0001347	Hyperreflexia
OMIM:611091	ZC3H14	79882	HP:0000431	Wide nasal bridge
OMIM:611091	ZC3H14	79882	HP:0000664	Synophrys
OMIM:611091	ZC3H14	79882	HP:0000574	Thick eyebrow
OMIM:611091	ZC3H14	79882	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	ZC3H14	79882	HP:0001771	Achilles tendon contracture
OMIM:611091	ZC3H14	79882	HP:0000506	Telecanthus
OMIM:611091	ZC3H14	79882	HP:0008897	Postnatal growth retardation
OMIM:611091	ZC3H14	79882	HP:0001250	Seizures
OMIM:611091	ZC3H14	79882	HP:0000322	Short philtrum
OMIM:611091	ZC3H14	79882	HP:0000316	Hypertelorism
OMIM:611091	ZC3H14	79882	HP:0001263	Global developmental delay
OMIM:611091	ZC3H14	79882	HP:0004322	Short stature
OMIM:611091	ZC3H14	79882	HP:0000275	Narrow face
OMIM:611091	PRSS12	8492	HP:0000319	Smooth philtrum
OMIM:611091	PRSS12	8492	HP:0000601	Hypotelorism
OMIM:611091	PRSS12	8492	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	PRSS12	8492	HP:0000252	Microcephaly
OMIM:611091	PRSS12	8492	HP:0000750	Delayed speech and language development
OMIM:611091	PRSS12	8492	HP:0001260	Dysarthria
OMIM:611091	PRSS12	8492	HP:0000276	Long face
OMIM:611091	PRSS12	8492	HP:0000331	Short chin
OMIM:611091	PRSS12	8492	HP:0000426	Prominent nasal bridge
OMIM:611091	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:611091	PRSS12	8492	HP:0000486	Strabismus
OMIM:611091	PRSS12	8492	HP:0001257	Spasticity
OMIM:611091	PRSS12	8492	HP:0000581	Blepharophimosis
OMIM:611091	PRSS12	8492	HP:0001518	Small for gestational age
OMIM:611091	PRSS12	8492	HP:0000964	Eczema
OMIM:611091	PRSS12	8492	HP:0001761	Pes cavus
OMIM:611091	PRSS12	8492	HP:0000430	Underdeveloped nasal alae
OMIM:611091	PRSS12	8492	HP:0000448	Prominent nose
OMIM:611091	PRSS12	8492	HP:0008070	Sparse hair
OMIM:611091	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:611091	PRSS12	8492	HP:0001347	Hyperreflexia
OMIM:611091	PRSS12	8492	HP:0000431	Wide nasal bridge
OMIM:611091	PRSS12	8492	HP:0000664	Synophrys
OMIM:611091	PRSS12	8492	HP:0000574	Thick eyebrow
OMIM:611091	PRSS12	8492	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	PRSS12	8492	HP:0001771	Achilles tendon contracture
OMIM:611091	PRSS12	8492	HP:0000506	Telecanthus
OMIM:611091	PRSS12	8492	HP:0008897	Postnatal growth retardation
OMIM:611091	PRSS12	8492	HP:0001250	Seizures
OMIM:611091	PRSS12	8492	HP:0000322	Short philtrum
OMIM:611091	PRSS12	8492	HP:0000316	Hypertelorism
OMIM:611091	PRSS12	8492	HP:0001263	Global developmental delay
OMIM:611091	PRSS12	8492	HP:0004322	Short stature
OMIM:611091	PRSS12	8492	HP:0000275	Narrow face
OMIM:611091	LINS1	55180	HP:0000319	Smooth philtrum
OMIM:611091	LINS1	55180	HP:0000601	Hypotelorism
OMIM:611091	LINS1	55180	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	LINS1	55180	HP:0000252	Microcephaly
OMIM:611091	LINS1	55180	HP:0000750	Delayed speech and language development
OMIM:611091	LINS1	55180	HP:0001260	Dysarthria
OMIM:611091	LINS1	55180	HP:0000276	Long face
OMIM:611091	LINS1	55180	HP:0000331	Short chin
OMIM:611091	LINS1	55180	HP:0000426	Prominent nasal bridge
OMIM:611091	LINS1	55180	HP:0001249	Intellectual disability
OMIM:611091	LINS1	55180	HP:0000486	Strabismus
OMIM:611091	LINS1	55180	HP:0001257	Spasticity
OMIM:611091	LINS1	55180	HP:0000581	Blepharophimosis
OMIM:611091	LINS1	55180	HP:0001518	Small for gestational age
OMIM:611091	LINS1	55180	HP:0000964	Eczema
OMIM:611091	LINS1	55180	HP:0001761	Pes cavus
OMIM:611091	LINS1	55180	HP:0000430	Underdeveloped nasal alae
OMIM:611091	LINS1	55180	HP:0000448	Prominent nose
OMIM:611091	LINS1	55180	HP:0008070	Sparse hair
OMIM:611091	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:611091	LINS1	55180	HP:0001347	Hyperreflexia
OMIM:611091	LINS1	55180	HP:0000431	Wide nasal bridge
OMIM:611091	LINS1	55180	HP:0000664	Synophrys
OMIM:611091	LINS1	55180	HP:0000574	Thick eyebrow
OMIM:611091	LINS1	55180	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	LINS1	55180	HP:0001771	Achilles tendon contracture
OMIM:611091	LINS1	55180	HP:0000506	Telecanthus
OMIM:611091	LINS1	55180	HP:0008897	Postnatal growth retardation
OMIM:611091	LINS1	55180	HP:0001250	Seizures
OMIM:611091	LINS1	55180	HP:0000322	Short philtrum
OMIM:611091	LINS1	55180	HP:0000316	Hypertelorism
OMIM:611091	LINS1	55180	HP:0001263	Global developmental delay
OMIM:611091	LINS1	55180	HP:0004322	Short stature
OMIM:611091	LINS1	55180	HP:0000275	Narrow face
OMIM:611091	NDST1	3340	HP:0000319	Smooth philtrum
OMIM:611091	NDST1	3340	HP:0000601	Hypotelorism
OMIM:611091	NDST1	3340	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	NDST1	3340	HP:0000252	Microcephaly
OMIM:611091	NDST1	3340	HP:0000750	Delayed speech and language development
OMIM:611091	NDST1	3340	HP:0001260	Dysarthria
OMIM:611091	NDST1	3340	HP:0000276	Long face
OMIM:611091	NDST1	3340	HP:0000331	Short chin
OMIM:611091	NDST1	3340	HP:0000426	Prominent nasal bridge
OMIM:611091	NDST1	3340	HP:0001249	Intellectual disability
OMIM:611091	NDST1	3340	HP:0000486	Strabismus
OMIM:611091	NDST1	3340	HP:0001257	Spasticity
OMIM:611091	NDST1	3340	HP:0000581	Blepharophimosis
OMIM:611091	NDST1	3340	HP:0001518	Small for gestational age
OMIM:611091	NDST1	3340	HP:0000964	Eczema
OMIM:611091	NDST1	3340	HP:0001761	Pes cavus
OMIM:611091	NDST1	3340	HP:0000430	Underdeveloped nasal alae
OMIM:611091	NDST1	3340	HP:0000448	Prominent nose
OMIM:611091	NDST1	3340	HP:0008070	Sparse hair
OMIM:611091	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:611091	NDST1	3340	HP:0001347	Hyperreflexia
OMIM:611091	NDST1	3340	HP:0000431	Wide nasal bridge
OMIM:611091	NDST1	3340	HP:0000664	Synophrys
OMIM:611091	NDST1	3340	HP:0000574	Thick eyebrow
OMIM:611091	NDST1	3340	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	NDST1	3340	HP:0001771	Achilles tendon contracture
OMIM:611091	NDST1	3340	HP:0000506	Telecanthus
OMIM:611091	NDST1	3340	HP:0008897	Postnatal growth retardation
OMIM:611091	NDST1	3340	HP:0001250	Seizures
OMIM:611091	NDST1	3340	HP:0000322	Short philtrum
OMIM:611091	NDST1	3340	HP:0000316	Hypertelorism
OMIM:611091	NDST1	3340	HP:0001263	Global developmental delay
OMIM:611091	NDST1	3340	HP:0004322	Short stature
OMIM:611091	NDST1	3340	HP:0000275	Narrow face
OMIM:611091	CC2D1A	54862	HP:0000319	Smooth philtrum
OMIM:611091	CC2D1A	54862	HP:0000601	Hypotelorism
OMIM:611091	CC2D1A	54862	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	CC2D1A	54862	HP:0000252	Microcephaly
OMIM:611091	CC2D1A	54862	HP:0000750	Delayed speech and language development
OMIM:611091	CC2D1A	54862	HP:0001260	Dysarthria
OMIM:611091	CC2D1A	54862	HP:0000276	Long face
OMIM:611091	CC2D1A	54862	HP:0000331	Short chin
OMIM:611091	CC2D1A	54862	HP:0000426	Prominent nasal bridge
OMIM:611091	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:611091	CC2D1A	54862	HP:0000486	Strabismus
OMIM:611091	CC2D1A	54862	HP:0001257	Spasticity
OMIM:611091	CC2D1A	54862	HP:0000581	Blepharophimosis
OMIM:611091	CC2D1A	54862	HP:0001518	Small for gestational age
OMIM:611091	CC2D1A	54862	HP:0000964	Eczema
OMIM:611091	CC2D1A	54862	HP:0001761	Pes cavus
OMIM:611091	CC2D1A	54862	HP:0000430	Underdeveloped nasal alae
OMIM:611091	CC2D1A	54862	HP:0000448	Prominent nose
OMIM:611091	CC2D1A	54862	HP:0008070	Sparse hair
OMIM:611091	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:611091	CC2D1A	54862	HP:0001347	Hyperreflexia
OMIM:611091	CC2D1A	54862	HP:0000431	Wide nasal bridge
OMIM:611091	CC2D1A	54862	HP:0000664	Synophrys
OMIM:611091	CC2D1A	54862	HP:0000574	Thick eyebrow
OMIM:611091	CC2D1A	54862	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	CC2D1A	54862	HP:0001771	Achilles tendon contracture
OMIM:611091	CC2D1A	54862	HP:0000506	Telecanthus
OMIM:611091	CC2D1A	54862	HP:0008897	Postnatal growth retardation
OMIM:611091	CC2D1A	54862	HP:0001250	Seizures
OMIM:611091	CC2D1A	54862	HP:0000322	Short philtrum
OMIM:611091	CC2D1A	54862	HP:0000316	Hypertelorism
OMIM:611091	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:611091	CC2D1A	54862	HP:0004322	Short stature
OMIM:611091	CC2D1A	54862	HP:0000275	Narrow face
OMIM:611091	FBXO31	79791	HP:0000319	Smooth philtrum
OMIM:611091	FBXO31	79791	HP:0000601	Hypotelorism
OMIM:611091	FBXO31	79791	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	FBXO31	79791	HP:0000252	Microcephaly
OMIM:611091	FBXO31	79791	HP:0000750	Delayed speech and language development
OMIM:611091	FBXO31	79791	HP:0001260	Dysarthria
OMIM:611091	FBXO31	79791	HP:0000276	Long face
OMIM:611091	FBXO31	79791	HP:0000331	Short chin
OMIM:611091	FBXO31	79791	HP:0000426	Prominent nasal bridge
OMIM:611091	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:611091	FBXO31	79791	HP:0000486	Strabismus
OMIM:611091	FBXO31	79791	HP:0001257	Spasticity
OMIM:611091	FBXO31	79791	HP:0000581	Blepharophimosis
OMIM:611091	FBXO31	79791	HP:0001518	Small for gestational age
OMIM:611091	FBXO31	79791	HP:0000964	Eczema
OMIM:611091	FBXO31	79791	HP:0001761	Pes cavus
OMIM:611091	FBXO31	79791	HP:0000430	Underdeveloped nasal alae
OMIM:611091	FBXO31	79791	HP:0000448	Prominent nose
OMIM:611091	FBXO31	79791	HP:0008070	Sparse hair
OMIM:611091	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:611091	FBXO31	79791	HP:0001347	Hyperreflexia
OMIM:611091	FBXO31	79791	HP:0000431	Wide nasal bridge
OMIM:611091	FBXO31	79791	HP:0000664	Synophrys
OMIM:611091	FBXO31	79791	HP:0000574	Thick eyebrow
OMIM:611091	FBXO31	79791	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	FBXO31	79791	HP:0001771	Achilles tendon contracture
OMIM:611091	FBXO31	79791	HP:0000506	Telecanthus
OMIM:611091	FBXO31	79791	HP:0008897	Postnatal growth retardation
OMIM:611091	FBXO31	79791	HP:0001250	Seizures
OMIM:611091	FBXO31	79791	HP:0000322	Short philtrum
OMIM:611091	FBXO31	79791	HP:0000316	Hypertelorism
OMIM:611091	FBXO31	79791	HP:0001263	Global developmental delay
OMIM:611091	FBXO31	79791	HP:0004322	Short stature
OMIM:611091	FBXO31	79791	HP:0000275	Narrow face
OMIM:611091	CRBN	51185	HP:0000319	Smooth philtrum
OMIM:611091	CRBN	51185	HP:0000601	Hypotelorism
OMIM:611091	CRBN	51185	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	CRBN	51185	HP:0000252	Microcephaly
OMIM:611091	CRBN	51185	HP:0000750	Delayed speech and language development
OMIM:611091	CRBN	51185	HP:0001260	Dysarthria
OMIM:611091	CRBN	51185	HP:0000276	Long face
OMIM:611091	CRBN	51185	HP:0000331	Short chin
OMIM:611091	CRBN	51185	HP:0000426	Prominent nasal bridge
OMIM:611091	CRBN	51185	HP:0001249	Intellectual disability
OMIM:611091	CRBN	51185	HP:0000486	Strabismus
OMIM:611091	CRBN	51185	HP:0001257	Spasticity
OMIM:611091	CRBN	51185	HP:0000581	Blepharophimosis
OMIM:611091	CRBN	51185	HP:0001518	Small for gestational age
OMIM:611091	CRBN	51185	HP:0000964	Eczema
OMIM:611091	CRBN	51185	HP:0001761	Pes cavus
OMIM:611091	CRBN	51185	HP:0000430	Underdeveloped nasal alae
OMIM:611091	CRBN	51185	HP:0000448	Prominent nose
OMIM:611091	CRBN	51185	HP:0008070	Sparse hair
OMIM:611091	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:611091	CRBN	51185	HP:0001347	Hyperreflexia
OMIM:611091	CRBN	51185	HP:0000431	Wide nasal bridge
OMIM:611091	CRBN	51185	HP:0000664	Synophrys
OMIM:611091	CRBN	51185	HP:0000574	Thick eyebrow
OMIM:611091	CRBN	51185	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	CRBN	51185	HP:0001771	Achilles tendon contracture
OMIM:611091	CRBN	51185	HP:0000506	Telecanthus
OMIM:611091	CRBN	51185	HP:0008897	Postnatal growth retardation
OMIM:611091	CRBN	51185	HP:0001250	Seizures
OMIM:611091	CRBN	51185	HP:0000322	Short philtrum
OMIM:611091	CRBN	51185	HP:0000316	Hypertelorism
OMIM:611091	CRBN	51185	HP:0001263	Global developmental delay
OMIM:611091	CRBN	51185	HP:0004322	Short stature
OMIM:611091	CRBN	51185	HP:0000275	Narrow face
OMIM:611091	TRAPPC9	83696	HP:0000319	Smooth philtrum
OMIM:611091	TRAPPC9	83696	HP:0000601	Hypotelorism
OMIM:611091	TRAPPC9	83696	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	TRAPPC9	83696	HP:0000252	Microcephaly
OMIM:611091	TRAPPC9	83696	HP:0000750	Delayed speech and language development
OMIM:611091	TRAPPC9	83696	HP:0001260	Dysarthria
OMIM:611091	TRAPPC9	83696	HP:0000276	Long face
OMIM:611091	TRAPPC9	83696	HP:0000331	Short chin
OMIM:611091	TRAPPC9	83696	HP:0000426	Prominent nasal bridge
OMIM:611091	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:611091	TRAPPC9	83696	HP:0000486	Strabismus
OMIM:611091	TRAPPC9	83696	HP:0001257	Spasticity
OMIM:611091	TRAPPC9	83696	HP:0000581	Blepharophimosis
OMIM:611091	TRAPPC9	83696	HP:0001518	Small for gestational age
OMIM:611091	TRAPPC9	83696	HP:0000964	Eczema
OMIM:611091	TRAPPC9	83696	HP:0001761	Pes cavus
OMIM:611091	TRAPPC9	83696	HP:0000430	Underdeveloped nasal alae
OMIM:611091	TRAPPC9	83696	HP:0000448	Prominent nose
OMIM:611091	TRAPPC9	83696	HP:0008070	Sparse hair
OMIM:611091	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:611091	TRAPPC9	83696	HP:0001347	Hyperreflexia
OMIM:611091	TRAPPC9	83696	HP:0000431	Wide nasal bridge
OMIM:611091	TRAPPC9	83696	HP:0000664	Synophrys
OMIM:611091	TRAPPC9	83696	HP:0000574	Thick eyebrow
OMIM:611091	TRAPPC9	83696	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	TRAPPC9	83696	HP:0001771	Achilles tendon contracture
OMIM:611091	TRAPPC9	83696	HP:0000506	Telecanthus
OMIM:611091	TRAPPC9	83696	HP:0008897	Postnatal growth retardation
OMIM:611091	TRAPPC9	83696	HP:0001250	Seizures
OMIM:611091	TRAPPC9	83696	HP:0000322	Short philtrum
OMIM:611091	TRAPPC9	83696	HP:0000316	Hypertelorism
OMIM:611091	TRAPPC9	83696	HP:0001263	Global developmental delay
OMIM:611091	TRAPPC9	83696	HP:0004322	Short stature
OMIM:611091	TRAPPC9	83696	HP:0000275	Narrow face
OMIM:611091	GRIK2	2898	HP:0000319	Smooth philtrum
OMIM:611091	GRIK2	2898	HP:0000601	Hypotelorism
OMIM:611091	GRIK2	2898	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	GRIK2	2898	HP:0000252	Microcephaly
OMIM:611091	GRIK2	2898	HP:0000750	Delayed speech and language development
OMIM:611091	GRIK2	2898	HP:0001260	Dysarthria
OMIM:611091	GRIK2	2898	HP:0000276	Long face
OMIM:611091	GRIK2	2898	HP:0000331	Short chin
OMIM:611091	GRIK2	2898	HP:0000426	Prominent nasal bridge
OMIM:611091	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:611091	GRIK2	2898	HP:0000486	Strabismus
OMIM:611091	GRIK2	2898	HP:0001257	Spasticity
OMIM:611091	GRIK2	2898	HP:0000581	Blepharophimosis
OMIM:611091	GRIK2	2898	HP:0001518	Small for gestational age
OMIM:611091	GRIK2	2898	HP:0000964	Eczema
OMIM:611091	GRIK2	2898	HP:0001761	Pes cavus
OMIM:611091	GRIK2	2898	HP:0000430	Underdeveloped nasal alae
OMIM:611091	GRIK2	2898	HP:0000448	Prominent nose
OMIM:611091	GRIK2	2898	HP:0008070	Sparse hair
OMIM:611091	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:611091	GRIK2	2898	HP:0001347	Hyperreflexia
OMIM:611091	GRIK2	2898	HP:0000431	Wide nasal bridge
OMIM:611091	GRIK2	2898	HP:0000664	Synophrys
OMIM:611091	GRIK2	2898	HP:0000574	Thick eyebrow
OMIM:611091	GRIK2	2898	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	GRIK2	2898	HP:0001771	Achilles tendon contracture
OMIM:611091	GRIK2	2898	HP:0000506	Telecanthus
OMIM:611091	GRIK2	2898	HP:0008897	Postnatal growth retardation
OMIM:611091	GRIK2	2898	HP:0001250	Seizures
OMIM:611091	GRIK2	2898	HP:0000322	Short philtrum
OMIM:611091	GRIK2	2898	HP:0000316	Hypertelorism
OMIM:611091	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:611091	GRIK2	2898	HP:0004322	Short stature
OMIM:611091	GRIK2	2898	HP:0000275	Narrow face
OMIM:611091	SLC6A17	388662	HP:0000319	Smooth philtrum
OMIM:611091	SLC6A17	388662	HP:0000601	Hypotelorism
OMIM:611091	SLC6A17	388662	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	SLC6A17	388662	HP:0000252	Microcephaly
OMIM:611091	SLC6A17	388662	HP:0000750	Delayed speech and language development
OMIM:611091	SLC6A17	388662	HP:0001260	Dysarthria
OMIM:611091	SLC6A17	388662	HP:0000276	Long face
OMIM:611091	SLC6A17	388662	HP:0000331	Short chin
OMIM:611091	SLC6A17	388662	HP:0000426	Prominent nasal bridge
OMIM:611091	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:611091	SLC6A17	388662	HP:0000486	Strabismus
OMIM:611091	SLC6A17	388662	HP:0001257	Spasticity
OMIM:611091	SLC6A17	388662	HP:0000581	Blepharophimosis
OMIM:611091	SLC6A17	388662	HP:0001518	Small for gestational age
OMIM:611091	SLC6A17	388662	HP:0000964	Eczema
OMIM:611091	SLC6A17	388662	HP:0001761	Pes cavus
OMIM:611091	SLC6A17	388662	HP:0000430	Underdeveloped nasal alae
OMIM:611091	SLC6A17	388662	HP:0000448	Prominent nose
OMIM:611091	SLC6A17	388662	HP:0008070	Sparse hair
OMIM:611091	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:611091	SLC6A17	388662	HP:0001347	Hyperreflexia
OMIM:611091	SLC6A17	388662	HP:0000431	Wide nasal bridge
OMIM:611091	SLC6A17	388662	HP:0000664	Synophrys
OMIM:611091	SLC6A17	388662	HP:0000574	Thick eyebrow
OMIM:611091	SLC6A17	388662	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	SLC6A17	388662	HP:0001771	Achilles tendon contracture
OMIM:611091	SLC6A17	388662	HP:0000506	Telecanthus
OMIM:611091	SLC6A17	388662	HP:0008897	Postnatal growth retardation
OMIM:611091	SLC6A17	388662	HP:0001250	Seizures
OMIM:611091	SLC6A17	388662	HP:0000322	Short philtrum
OMIM:611091	SLC6A17	388662	HP:0000316	Hypertelorism
OMIM:611091	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:611091	SLC6A17	388662	HP:0004322	Short stature
OMIM:611091	SLC6A17	388662	HP:0000275	Narrow face
OMIM:611091	TECR	9524	HP:0000319	Smooth philtrum
OMIM:611091	TECR	9524	HP:0000601	Hypotelorism
OMIM:611091	TECR	9524	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	TECR	9524	HP:0000252	Microcephaly
OMIM:611091	TECR	9524	HP:0000750	Delayed speech and language development
OMIM:611091	TECR	9524	HP:0001260	Dysarthria
OMIM:611091	TECR	9524	HP:0000276	Long face
OMIM:611091	TECR	9524	HP:0000331	Short chin
OMIM:611091	TECR	9524	HP:0000426	Prominent nasal bridge
OMIM:611091	TECR	9524	HP:0001249	Intellectual disability
OMIM:611091	TECR	9524	HP:0000486	Strabismus
OMIM:611091	TECR	9524	HP:0001257	Spasticity
OMIM:611091	TECR	9524	HP:0000581	Blepharophimosis
OMIM:611091	TECR	9524	HP:0001518	Small for gestational age
OMIM:611091	TECR	9524	HP:0000964	Eczema
OMIM:611091	TECR	9524	HP:0001761	Pes cavus
OMIM:611091	TECR	9524	HP:0000430	Underdeveloped nasal alae
OMIM:611091	TECR	9524	HP:0000448	Prominent nose
OMIM:611091	TECR	9524	HP:0008070	Sparse hair
OMIM:611091	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:611091	TECR	9524	HP:0001347	Hyperreflexia
OMIM:611091	TECR	9524	HP:0000431	Wide nasal bridge
OMIM:611091	TECR	9524	HP:0000664	Synophrys
OMIM:611091	TECR	9524	HP:0000574	Thick eyebrow
OMIM:611091	TECR	9524	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	TECR	9524	HP:0001771	Achilles tendon contracture
OMIM:611091	TECR	9524	HP:0000506	Telecanthus
OMIM:611091	TECR	9524	HP:0008897	Postnatal growth retardation
OMIM:611091	TECR	9524	HP:0001250	Seizures
OMIM:611091	TECR	9524	HP:0000322	Short philtrum
OMIM:611091	TECR	9524	HP:0000316	Hypertelorism
OMIM:611091	TECR	9524	HP:0001263	Global developmental delay
OMIM:611091	TECR	9524	HP:0004322	Short stature
OMIM:611091	TECR	9524	HP:0000275	Narrow face
OMIM:611091	MAN1B1	11253	HP:0000319	Smooth philtrum
OMIM:611091	MAN1B1	11253	HP:0000601	Hypotelorism
OMIM:611091	MAN1B1	11253	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	MAN1B1	11253	HP:0000252	Microcephaly
OMIM:611091	MAN1B1	11253	HP:0000750	Delayed speech and language development
OMIM:611091	MAN1B1	11253	HP:0001260	Dysarthria
OMIM:611091	MAN1B1	11253	HP:0000276	Long face
OMIM:611091	MAN1B1	11253	HP:0000331	Short chin
OMIM:611091	MAN1B1	11253	HP:0000426	Prominent nasal bridge
OMIM:611091	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:611091	MAN1B1	11253	HP:0000486	Strabismus
OMIM:611091	MAN1B1	11253	HP:0001257	Spasticity
OMIM:611091	MAN1B1	11253	HP:0000581	Blepharophimosis
OMIM:611091	MAN1B1	11253	HP:0001518	Small for gestational age
OMIM:611091	MAN1B1	11253	HP:0000964	Eczema
OMIM:611091	MAN1B1	11253	HP:0001761	Pes cavus
OMIM:611091	MAN1B1	11253	HP:0000430	Underdeveloped nasal alae
OMIM:611091	MAN1B1	11253	HP:0000448	Prominent nose
OMIM:611091	MAN1B1	11253	HP:0008070	Sparse hair
OMIM:611091	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:611091	MAN1B1	11253	HP:0001347	Hyperreflexia
OMIM:611091	MAN1B1	11253	HP:0000431	Wide nasal bridge
OMIM:611091	MAN1B1	11253	HP:0000664	Synophrys
OMIM:611091	MAN1B1	11253	HP:0000574	Thick eyebrow
OMIM:611091	MAN1B1	11253	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	MAN1B1	11253	HP:0001771	Achilles tendon contracture
OMIM:611091	MAN1B1	11253	HP:0000506	Telecanthus
OMIM:611091	MAN1B1	11253	HP:0008897	Postnatal growth retardation
OMIM:611091	MAN1B1	11253	HP:0001250	Seizures
OMIM:611091	MAN1B1	11253	HP:0000322	Short philtrum
OMIM:611091	MAN1B1	11253	HP:0000316	Hypertelorism
OMIM:611091	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:611091	MAN1B1	11253	HP:0004322	Short stature
OMIM:611091	MAN1B1	11253	HP:0000275	Narrow face
OMIM:611091	TUSC3	7991	HP:0000319	Smooth philtrum
OMIM:611091	TUSC3	7991	HP:0000601	Hypotelorism
OMIM:611091	TUSC3	7991	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	TUSC3	7991	HP:0000252	Microcephaly
OMIM:611091	TUSC3	7991	HP:0000750	Delayed speech and language development
OMIM:611091	TUSC3	7991	HP:0001260	Dysarthria
OMIM:611091	TUSC3	7991	HP:0000276	Long face
OMIM:611091	TUSC3	7991	HP:0000331	Short chin
OMIM:611091	TUSC3	7991	HP:0000426	Prominent nasal bridge
OMIM:611091	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:611091	TUSC3	7991	HP:0000486	Strabismus
OMIM:611091	TUSC3	7991	HP:0001257	Spasticity
OMIM:611091	TUSC3	7991	HP:0000581	Blepharophimosis
OMIM:611091	TUSC3	7991	HP:0001518	Small for gestational age
OMIM:611091	TUSC3	7991	HP:0000964	Eczema
OMIM:611091	TUSC3	7991	HP:0001761	Pes cavus
OMIM:611091	TUSC3	7991	HP:0000430	Underdeveloped nasal alae
OMIM:611091	TUSC3	7991	HP:0000448	Prominent nose
OMIM:611091	TUSC3	7991	HP:0008070	Sparse hair
OMIM:611091	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:611091	TUSC3	7991	HP:0001347	Hyperreflexia
OMIM:611091	TUSC3	7991	HP:0000431	Wide nasal bridge
OMIM:611091	TUSC3	7991	HP:0000664	Synophrys
OMIM:611091	TUSC3	7991	HP:0000574	Thick eyebrow
OMIM:611091	TUSC3	7991	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	TUSC3	7991	HP:0001771	Achilles tendon contracture
OMIM:611091	TUSC3	7991	HP:0000506	Telecanthus
OMIM:611091	TUSC3	7991	HP:0008897	Postnatal growth retardation
OMIM:611091	TUSC3	7991	HP:0001250	Seizures
OMIM:611091	TUSC3	7991	HP:0000322	Short philtrum
OMIM:611091	TUSC3	7991	HP:0000316	Hypertelorism
OMIM:611091	TUSC3	7991	HP:0001263	Global developmental delay
OMIM:611091	TUSC3	7991	HP:0004322	Short stature
OMIM:611091	TUSC3	7991	HP:0000275	Narrow face
OMIM:611091	ST3GAL3	6487	HP:0000319	Smooth philtrum
OMIM:611091	ST3GAL3	6487	HP:0000601	Hypotelorism
OMIM:611091	ST3GAL3	6487	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	ST3GAL3	6487	HP:0000252	Microcephaly
OMIM:611091	ST3GAL3	6487	HP:0000750	Delayed speech and language development
OMIM:611091	ST3GAL3	6487	HP:0001260	Dysarthria
OMIM:611091	ST3GAL3	6487	HP:0000276	Long face
OMIM:611091	ST3GAL3	6487	HP:0000331	Short chin
OMIM:611091	ST3GAL3	6487	HP:0000426	Prominent nasal bridge
OMIM:611091	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:611091	ST3GAL3	6487	HP:0000486	Strabismus
OMIM:611091	ST3GAL3	6487	HP:0001257	Spasticity
OMIM:611091	ST3GAL3	6487	HP:0000581	Blepharophimosis
OMIM:611091	ST3GAL3	6487	HP:0001518	Small for gestational age
OMIM:611091	ST3GAL3	6487	HP:0000964	Eczema
OMIM:611091	ST3GAL3	6487	HP:0001761	Pes cavus
OMIM:611091	ST3GAL3	6487	HP:0000430	Underdeveloped nasal alae
OMIM:611091	ST3GAL3	6487	HP:0000448	Prominent nose
OMIM:611091	ST3GAL3	6487	HP:0008070	Sparse hair
OMIM:611091	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:611091	ST3GAL3	6487	HP:0001347	Hyperreflexia
OMIM:611091	ST3GAL3	6487	HP:0000431	Wide nasal bridge
OMIM:611091	ST3GAL3	6487	HP:0000664	Synophrys
OMIM:611091	ST3GAL3	6487	HP:0000574	Thick eyebrow
OMIM:611091	ST3GAL3	6487	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	ST3GAL3	6487	HP:0001771	Achilles tendon contracture
OMIM:611091	ST3GAL3	6487	HP:0000506	Telecanthus
OMIM:611091	ST3GAL3	6487	HP:0008897	Postnatal growth retardation
OMIM:611091	ST3GAL3	6487	HP:0001250	Seizures
OMIM:611091	ST3GAL3	6487	HP:0000322	Short philtrum
OMIM:611091	ST3GAL3	6487	HP:0000316	Hypertelorism
OMIM:611091	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:611091	ST3GAL3	6487	HP:0004322	Short stature
OMIM:611091	ST3GAL3	6487	HP:0000275	Narrow face
OMIM:611091	EDC3	80153	HP:0000319	Smooth philtrum
OMIM:611091	EDC3	80153	HP:0000601	Hypotelorism
OMIM:611091	EDC3	80153	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	EDC3	80153	HP:0000252	Microcephaly
OMIM:611091	EDC3	80153	HP:0000750	Delayed speech and language development
OMIM:611091	EDC3	80153	HP:0001260	Dysarthria
OMIM:611091	EDC3	80153	HP:0000276	Long face
OMIM:611091	EDC3	80153	HP:0000331	Short chin
OMIM:611091	EDC3	80153	HP:0000426	Prominent nasal bridge
OMIM:611091	EDC3	80153	HP:0001249	Intellectual disability
OMIM:611091	EDC3	80153	HP:0000486	Strabismus
OMIM:611091	EDC3	80153	HP:0001257	Spasticity
OMIM:611091	EDC3	80153	HP:0000581	Blepharophimosis
OMIM:611091	EDC3	80153	HP:0001518	Small for gestational age
OMIM:611091	EDC3	80153	HP:0000964	Eczema
OMIM:611091	EDC3	80153	HP:0001761	Pes cavus
OMIM:611091	EDC3	80153	HP:0000430	Underdeveloped nasal alae
OMIM:611091	EDC3	80153	HP:0000448	Prominent nose
OMIM:611091	EDC3	80153	HP:0008070	Sparse hair
OMIM:611091	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:611091	EDC3	80153	HP:0001347	Hyperreflexia
OMIM:611091	EDC3	80153	HP:0000431	Wide nasal bridge
OMIM:611091	EDC3	80153	HP:0000664	Synophrys
OMIM:611091	EDC3	80153	HP:0000574	Thick eyebrow
OMIM:611091	EDC3	80153	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	EDC3	80153	HP:0001771	Achilles tendon contracture
OMIM:611091	EDC3	80153	HP:0000506	Telecanthus
OMIM:611091	EDC3	80153	HP:0008897	Postnatal growth retardation
OMIM:611091	EDC3	80153	HP:0001250	Seizures
OMIM:611091	EDC3	80153	HP:0000322	Short philtrum
OMIM:611091	EDC3	80153	HP:0000316	Hypertelorism
OMIM:611091	EDC3	80153	HP:0001263	Global developmental delay
OMIM:611091	EDC3	80153	HP:0004322	Short stature
OMIM:611091	EDC3	80153	HP:0000275	Narrow face
OMIM:611091	MED13L	23389	HP:0000319	Smooth philtrum
OMIM:611091	MED13L	23389	HP:0000601	Hypotelorism
OMIM:611091	MED13L	23389	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	MED13L	23389	HP:0000252	Microcephaly
OMIM:611091	MED13L	23389	HP:0000750	Delayed speech and language development
OMIM:611091	MED13L	23389	HP:0001260	Dysarthria
OMIM:611091	MED13L	23389	HP:0000276	Long face
OMIM:611091	MED13L	23389	HP:0000331	Short chin
OMIM:611091	MED13L	23389	HP:0000426	Prominent nasal bridge
OMIM:611091	MED13L	23389	HP:0001249	Intellectual disability
OMIM:611091	MED13L	23389	HP:0000486	Strabismus
OMIM:611091	MED13L	23389	HP:0001257	Spasticity
OMIM:611091	MED13L	23389	HP:0000581	Blepharophimosis
OMIM:611091	MED13L	23389	HP:0001518	Small for gestational age
OMIM:611091	MED13L	23389	HP:0000964	Eczema
OMIM:611091	MED13L	23389	HP:0001761	Pes cavus
OMIM:611091	MED13L	23389	HP:0000430	Underdeveloped nasal alae
OMIM:611091	MED13L	23389	HP:0000448	Prominent nose
OMIM:611091	MED13L	23389	HP:0008070	Sparse hair
OMIM:611091	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:611091	MED13L	23389	HP:0001347	Hyperreflexia
OMIM:611091	MED13L	23389	HP:0000431	Wide nasal bridge
OMIM:611091	MED13L	23389	HP:0000664	Synophrys
OMIM:611091	MED13L	23389	HP:0000574	Thick eyebrow
OMIM:611091	MED13L	23389	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	MED13L	23389	HP:0001771	Achilles tendon contracture
OMIM:611091	MED13L	23389	HP:0000506	Telecanthus
OMIM:611091	MED13L	23389	HP:0008897	Postnatal growth retardation
OMIM:611091	MED13L	23389	HP:0001250	Seizures
OMIM:611091	MED13L	23389	HP:0000322	Short philtrum
OMIM:611091	MED13L	23389	HP:0000316	Hypertelorism
OMIM:611091	MED13L	23389	HP:0001263	Global developmental delay
OMIM:611091	MED13L	23389	HP:0004322	Short stature
OMIM:611091	MED13L	23389	HP:0000275	Narrow face
OMIM:611091	KIAA1033	23325	HP:0000319	Smooth philtrum
OMIM:611091	KIAA1033	23325	HP:0000601	Hypotelorism
OMIM:611091	KIAA1033	23325	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	KIAA1033	23325	HP:0000252	Microcephaly
OMIM:611091	KIAA1033	23325	HP:0000750	Delayed speech and language development
OMIM:611091	KIAA1033	23325	HP:0001260	Dysarthria
OMIM:611091	KIAA1033	23325	HP:0000276	Long face
OMIM:611091	KIAA1033	23325	HP:0000331	Short chin
OMIM:611091	KIAA1033	23325	HP:0000426	Prominent nasal bridge
OMIM:611091	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:611091	KIAA1033	23325	HP:0000486	Strabismus
OMIM:611091	KIAA1033	23325	HP:0001257	Spasticity
OMIM:611091	KIAA1033	23325	HP:0000581	Blepharophimosis
OMIM:611091	KIAA1033	23325	HP:0001518	Small for gestational age
OMIM:611091	KIAA1033	23325	HP:0000964	Eczema
OMIM:611091	KIAA1033	23325	HP:0001761	Pes cavus
OMIM:611091	KIAA1033	23325	HP:0000430	Underdeveloped nasal alae
OMIM:611091	KIAA1033	23325	HP:0000448	Prominent nose
OMIM:611091	KIAA1033	23325	HP:0008070	Sparse hair
OMIM:611091	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:611091	KIAA1033	23325	HP:0001347	Hyperreflexia
OMIM:611091	KIAA1033	23325	HP:0000431	Wide nasal bridge
OMIM:611091	KIAA1033	23325	HP:0000664	Synophrys
OMIM:611091	KIAA1033	23325	HP:0000574	Thick eyebrow
OMIM:611091	KIAA1033	23325	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	KIAA1033	23325	HP:0001771	Achilles tendon contracture
OMIM:611091	KIAA1033	23325	HP:0000506	Telecanthus
OMIM:611091	KIAA1033	23325	HP:0008897	Postnatal growth retardation
OMIM:611091	KIAA1033	23325	HP:0001250	Seizures
OMIM:611091	KIAA1033	23325	HP:0000322	Short philtrum
OMIM:611091	KIAA1033	23325	HP:0000316	Hypertelorism
OMIM:611091	KIAA1033	23325	HP:0001263	Global developmental delay
OMIM:611091	KIAA1033	23325	HP:0004322	Short stature
OMIM:611091	KIAA1033	23325	HP:0000275	Narrow face
OMIM:611091	MED23	9439	HP:0000319	Smooth philtrum
OMIM:611091	MED23	9439	HP:0000601	Hypotelorism
OMIM:611091	MED23	9439	HP:0008936	Muscular hypotonia of the trunk
OMIM:611091	MED23	9439	HP:0000252	Microcephaly
OMIM:611091	MED23	9439	HP:0000750	Delayed speech and language development
OMIM:611091	MED23	9439	HP:0001260	Dysarthria
OMIM:611091	MED23	9439	HP:0000276	Long face
OMIM:611091	MED23	9439	HP:0000331	Short chin
OMIM:611091	MED23	9439	HP:0000426	Prominent nasal bridge
OMIM:611091	MED23	9439	HP:0001249	Intellectual disability
OMIM:611091	MED23	9439	HP:0000486	Strabismus
OMIM:611091	MED23	9439	HP:0001257	Spasticity
OMIM:611091	MED23	9439	HP:0000581	Blepharophimosis
OMIM:611091	MED23	9439	HP:0001518	Small for gestational age
OMIM:611091	MED23	9439	HP:0000964	Eczema
OMIM:611091	MED23	9439	HP:0001761	Pes cavus
OMIM:611091	MED23	9439	HP:0000430	Underdeveloped nasal alae
OMIM:611091	MED23	9439	HP:0000448	Prominent nose
OMIM:611091	MED23	9439	HP:0008070	Sparse hair
OMIM:611091	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:611091	MED23	9439	HP:0001347	Hyperreflexia
OMIM:611091	MED23	9439	HP:0000431	Wide nasal bridge
OMIM:611091	MED23	9439	HP:0000664	Synophrys
OMIM:611091	MED23	9439	HP:0000574	Thick eyebrow
OMIM:611091	MED23	9439	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611091	MED23	9439	HP:0001771	Achilles tendon contracture
OMIM:611091	MED23	9439	HP:0000506	Telecanthus
OMIM:611091	MED23	9439	HP:0008897	Postnatal growth retardation
OMIM:611091	MED23	9439	HP:0001250	Seizures
OMIM:611091	MED23	9439	HP:0000322	Short philtrum
OMIM:611091	MED23	9439	HP:0000316	Hypertelorism
OMIM:611091	MED23	9439	HP:0001263	Global developmental delay
OMIM:611091	MED23	9439	HP:0004322	Short stature
OMIM:611091	MED23	9439	HP:0000275	Narrow face
OMIM:616216	ETV6	2120	HP:0000967	Petechiae
OMIM:616216	ETV6	2120	HP:0001903	Anemia
OMIM:616216	ETV6	2120	HP:0001873	Thrombocytopenia
OMIM:616216	ETV6	2120	HP:0000421	Epistaxis
OMIM:616216	ETV6	2120	HP:0001875	Neutropenia
OMIM:616216	ETV6	2120	HP:0000978	Bruising susceptibility
OMIM:186500	GDF5	8200	HP:0008368	Tarsal synostosis
OMIM:186500	GDF5	8200	HP:0010109	Short hallux
OMIM:186500	GDF5	8200	HP:0003083	Dislocated radial head
OMIM:186500	GDF5	8200	HP:0003468	Abnormality of the vertebrae
OMIM:186500	GDF5	8200	HP:0010624	Aplastic/hypoplastic toenail
OMIM:186500	GDF5	8200	HP:0009702	Carpal synostosis
OMIM:186500	GDF5	8200	HP:0008460	Hypoplastic spinal processes
OMIM:186500	GDF5	8200	HP:0004691	2-3 toe syndactyly
OMIM:186500	GDF5	8200	HP:0000322	Short philtrum
OMIM:186500	GDF5	8200	HP:0001798	Anonychia
OMIM:186500	GDF5	8200	HP:0005792	Short humerus
OMIM:186500	GDF5	8200	HP:0009466	Radial deviation of finger
OMIM:186500	GDF5	8200	HP:0000486	Strabismus
OMIM:186500	GDF5	8200	HP:0000381	Stapes ankylosis
OMIM:186500	GDF5	8200	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:186500	GDF5	8200	HP:0030084	Clinodactyly
OMIM:186500	GDF5	8200	HP:0000430	Underdeveloped nasal alae
OMIM:186500	GDF5	8200	HP:0003416	Spinal canal stenosis
OMIM:186500	GDF5	8200	HP:0000954	Single transverse palmar crease
OMIM:186500	GDF5	8200	HP:0001032	Absent distal interphalangeal creases
OMIM:186500	GDF5	8200	HP:0006385	Short lower limbs
OMIM:186500	GDF5	8200	HP:0010554	Cutaneous finger syndactyly
OMIM:186500	GDF5	8200	HP:0002515	Waddling gait
OMIM:186500	GDF5	8200	HP:0009816	Lower limb undergrowth
OMIM:186500	GDF5	8200	HP:0008607	Progressive conductive hearing impairment
OMIM:186500	GDF5	8200	HP:0000879	Short sternum
OMIM:186500	GDF5	8200	HP:0005104	Hypoplastic nasal septum
OMIM:186500	GDF5	8200	HP:0006152	Proximal symphalangism (hands)
OMIM:186500	GDF5	8200	HP:0000219	Thin upper lip vermilion
OMIM:186500	GDF5	8200	HP:0001156	Brachydactyly syndrome
OMIM:186500	GDF5	8200	HP:0001773	Short foot
OMIM:186500	GDF5	8200	HP:0000275	Narrow face
OMIM:186500	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:186500	GDF5	8200	HP:0002967	Cubitus valgus
OMIM:186500	GDF5	8200	HP:0005807	Absent distal phalanges
OMIM:186500	GDF5	8200	HP:0000215	Thick upper lip vermilion
OMIM:186500	GDF5	8200	HP:0000767	Pectus excavatum
OMIM:186500	GDF5	8200	HP:0000920	Enlargement of the costochondral junction
OMIM:186500	GDF5	8200	HP:0006187	Fusion of midphalangeal joints
OMIM:186500	NOG	9241	HP:0008368	Tarsal synostosis
OMIM:186500	NOG	9241	HP:0010109	Short hallux
OMIM:186500	NOG	9241	HP:0003083	Dislocated radial head
OMIM:186500	NOG	9241	HP:0003468	Abnormality of the vertebrae
OMIM:186500	NOG	9241	HP:0010624	Aplastic/hypoplastic toenail
OMIM:186500	NOG	9241	HP:0009702	Carpal synostosis
OMIM:186500	NOG	9241	HP:0008460	Hypoplastic spinal processes
OMIM:186500	NOG	9241	HP:0004691	2-3 toe syndactyly
OMIM:186500	NOG	9241	HP:0000322	Short philtrum
OMIM:186500	NOG	9241	HP:0001798	Anonychia
OMIM:186500	NOG	9241	HP:0005792	Short humerus
OMIM:186500	NOG	9241	HP:0009466	Radial deviation of finger
OMIM:186500	NOG	9241	HP:0000486	Strabismus
OMIM:186500	NOG	9241	HP:0000381	Stapes ankylosis
OMIM:186500	NOG	9241	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:186500	NOG	9241	HP:0030084	Clinodactyly
OMIM:186500	NOG	9241	HP:0000430	Underdeveloped nasal alae
OMIM:186500	NOG	9241	HP:0003416	Spinal canal stenosis
OMIM:186500	NOG	9241	HP:0000954	Single transverse palmar crease
OMIM:186500	NOG	9241	HP:0001032	Absent distal interphalangeal creases
OMIM:186500	NOG	9241	HP:0006385	Short lower limbs
OMIM:186500	NOG	9241	HP:0010554	Cutaneous finger syndactyly
OMIM:186500	NOG	9241	HP:0002515	Waddling gait
OMIM:186500	NOG	9241	HP:0009816	Lower limb undergrowth
OMIM:186500	NOG	9241	HP:0008607	Progressive conductive hearing impairment
OMIM:186500	NOG	9241	HP:0000879	Short sternum
OMIM:186500	NOG	9241	HP:0005104	Hypoplastic nasal septum
OMIM:186500	NOG	9241	HP:0006152	Proximal symphalangism (hands)
OMIM:186500	NOG	9241	HP:0000219	Thin upper lip vermilion
OMIM:186500	NOG	9241	HP:0001156	Brachydactyly syndrome
OMIM:186500	NOG	9241	HP:0001773	Short foot
OMIM:186500	NOG	9241	HP:0000275	Narrow face
OMIM:186500	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:186500	NOG	9241	HP:0002967	Cubitus valgus
OMIM:186500	NOG	9241	HP:0005807	Absent distal phalanges
OMIM:186500	NOG	9241	HP:0000215	Thick upper lip vermilion
OMIM:186500	NOG	9241	HP:0000767	Pectus excavatum
OMIM:186500	NOG	9241	HP:0000920	Enlargement of the costochondral junction
OMIM:186500	NOG	9241	HP:0006187	Fusion of midphalangeal joints
OMIM:186500	FGF9	2254	HP:0008368	Tarsal synostosis
OMIM:186500	FGF9	2254	HP:0010109	Short hallux
OMIM:186500	FGF9	2254	HP:0003083	Dislocated radial head
OMIM:186500	FGF9	2254	HP:0003468	Abnormality of the vertebrae
OMIM:186500	FGF9	2254	HP:0010624	Aplastic/hypoplastic toenail
OMIM:186500	FGF9	2254	HP:0009702	Carpal synostosis
OMIM:186500	FGF9	2254	HP:0008460	Hypoplastic spinal processes
OMIM:186500	FGF9	2254	HP:0004691	2-3 toe syndactyly
OMIM:186500	FGF9	2254	HP:0000322	Short philtrum
OMIM:186500	FGF9	2254	HP:0001798	Anonychia
OMIM:186500	FGF9	2254	HP:0005792	Short humerus
OMIM:186500	FGF9	2254	HP:0009466	Radial deviation of finger
OMIM:186500	FGF9	2254	HP:0000486	Strabismus
OMIM:186500	FGF9	2254	HP:0000381	Stapes ankylosis
OMIM:186500	FGF9	2254	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:186500	FGF9	2254	HP:0030084	Clinodactyly
OMIM:186500	FGF9	2254	HP:0000430	Underdeveloped nasal alae
OMIM:186500	FGF9	2254	HP:0003416	Spinal canal stenosis
OMIM:186500	FGF9	2254	HP:0000954	Single transverse palmar crease
OMIM:186500	FGF9	2254	HP:0001032	Absent distal interphalangeal creases
OMIM:186500	FGF9	2254	HP:0006385	Short lower limbs
OMIM:186500	FGF9	2254	HP:0010554	Cutaneous finger syndactyly
OMIM:186500	FGF9	2254	HP:0002515	Waddling gait
OMIM:186500	FGF9	2254	HP:0009816	Lower limb undergrowth
OMIM:186500	FGF9	2254	HP:0008607	Progressive conductive hearing impairment
OMIM:186500	FGF9	2254	HP:0000879	Short sternum
OMIM:186500	FGF9	2254	HP:0005104	Hypoplastic nasal septum
OMIM:186500	FGF9	2254	HP:0006152	Proximal symphalangism (hands)
OMIM:186500	FGF9	2254	HP:0000219	Thin upper lip vermilion
OMIM:186500	FGF9	2254	HP:0001156	Brachydactyly syndrome
OMIM:186500	FGF9	2254	HP:0001773	Short foot
OMIM:186500	FGF9	2254	HP:0000275	Narrow face
OMIM:186500	FGF9	2254	HP:0000006	Autosomal dominant inheritance
OMIM:186500	FGF9	2254	HP:0002967	Cubitus valgus
OMIM:186500	FGF9	2254	HP:0005807	Absent distal phalanges
OMIM:186500	FGF9	2254	HP:0000215	Thick upper lip vermilion
OMIM:186500	FGF9	2254	HP:0000767	Pectus excavatum
OMIM:186500	FGF9	2254	HP:0000920	Enlargement of the costochondral junction
OMIM:186500	FGF9	2254	HP:0006187	Fusion of midphalangeal joints
OMIM:609628	LPIN2	9663	HP:0001371	Flexion contracture
OMIM:609628	LPIN2	9663	HP:0002633	Vasculitis
OMIM:609628	LPIN2	9663	HP:0000969	Edema
OMIM:609628	LPIN2	9663	HP:0001744	Splenomegaly
OMIM:609628	LPIN2	9663	HP:0100774	Hyperostosis
OMIM:609628	LPIN2	9663	HP:0002240	Hepatomegaly
OMIM:609628	LPIN2	9663	HP:0000093	Proteinuria
OMIM:609628	LPIN2	9663	HP:0002024	Malabsorption
OMIM:609628	LPIN2	9663	HP:0001824	Weight loss
OMIM:609628	LPIN2	9663	HP:0002754	Osteomyelitis
OMIM:609628	LPIN2	9663	HP:0000944	Abnormality of the metaphyses
OMIM:609628	LPIN2	9663	HP:0002829	Arthralgia
OMIM:609628	LPIN2	9663	HP:0100533	Inflammatory abnormality of the eye
OMIM:609628	LPIN2	9663	HP:0002653	Bone pain
OMIM:609628	LPIN2	9663	HP:0001974	Leukocytosis
OMIM:609628	LPIN2	9663	HP:0004348	Abnormality of bone mineral density
OMIM:609628	LPIN2	9663	HP:0002113	Pulmonary infiltrates
OMIM:609628	LPIN2	9663	HP:0000790	Hematuria
OMIM:609628	LPIN2	9663	HP:0002076	Migraine
OMIM:609628	LPIN2	9663	HP:0001369	Arthritis
OMIM:609628	LPIN2	9663	HP:0002757	Recurrent fractures
OMIM:609628	LPIN2	9663	HP:0004370	Abnormality of temperature regulation
OMIM:609628	LPIN2	9663	HP:0000988	Skin rash
OMIM:609628	LPIN2	9663	HP:0001061	Acne
OMIM:609628	LPIN2	9663	HP:0003326	Myalgia
OMIM:614280	CACNB4	785	HP:0002373	Febrile seizures
OMIM:614280	CACNB4	785	HP:0002121	Absence seizures
OMIM:614280	CACNB4	785	HP:0000006	Autosomal dominant inheritance
OMIM:614280	GABRD	2563	HP:0002373	Febrile seizures
OMIM:614280	GABRD	2563	HP:0002121	Absence seizures
OMIM:614280	GABRD	2563	HP:0000006	Autosomal dominant inheritance
OMIM:614280	JRK	8629	HP:0002373	Febrile seizures
OMIM:614280	JRK	8629	HP:0002121	Absence seizures
OMIM:614280	JRK	8629	HP:0000006	Autosomal dominant inheritance
OMIM:614280	EFHC1	114327	HP:0002373	Febrile seizures
OMIM:614280	EFHC1	114327	HP:0002121	Absence seizures
OMIM:614280	EFHC1	114327	HP:0000006	Autosomal dominant inheritance
OMIM:614280	GABRA1	2554	HP:0002373	Febrile seizures
OMIM:614280	GABRA1	2554	HP:0002121	Absence seizures
OMIM:614280	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:614280	KCNQ3	3786	HP:0002373	Febrile seizures
OMIM:614280	KCNQ3	3786	HP:0002121	Absence seizures
OMIM:614280	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:614280	CLCN2	1181	HP:0002373	Febrile seizures
OMIM:614280	CLCN2	1181	HP:0002121	Absence seizures
OMIM:614280	CLCN2	1181	HP:0000006	Autosomal dominant inheritance
OMIM:267010	NPHP3	27031	HP:0001732	Abnormality of the pancreas
OMIM:267010	NPHP3	27031	HP:0002566	Intestinal malrotation
OMIM:267010	NPHP3	27031	HP:0000003	Multicystic kidney dysplasia
OMIM:267010	NPHP3	27031	HP:0001408	Bile duct proliferation
OMIM:267010	NPHP3	27031	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:267010	NPHP3	27031	HP:0001305	Dandy-Walker malformation
OMIM:267010	NPHP3	27031	HP:0001561	Polyhydramnios
OMIM:267010	NPHP3	27031	HP:0001562	Oligohydramnios
OMIM:267010	NPHP3	27031	HP:0001392	Abnormality of the liver
OMIM:614618	SLC6A5	9152	HP:0001276	Hypertonia
OMIM:614618	SLC6A5	9152	HP:0002104	Apnea
OMIM:614618	SLC6A5	9152	HP:0000006	Autosomal dominant inheritance
OMIM:614618	SLC6A5	9152	HP:0003593	Infantile onset
OMIM:614618	SLC6A5	9152	HP:0000007	Autosomal recessive inheritance
OMIM:614618	SLC6A5	9152	HP:0002267	Exaggerated startle response
OMIM:614618	GPHN	10243	HP:0001276	Hypertonia
OMIM:614618	GPHN	10243	HP:0002104	Apnea
OMIM:614618	GPHN	10243	HP:0000006	Autosomal dominant inheritance
OMIM:614618	GPHN	10243	HP:0003593	Infantile onset
OMIM:614618	GPHN	10243	HP:0000007	Autosomal recessive inheritance
OMIM:614618	GPHN	10243	HP:0002267	Exaggerated startle response
OMIM:614618	GLRA1	2741	HP:0001276	Hypertonia
OMIM:614618	GLRA1	2741	HP:0002104	Apnea
OMIM:614618	GLRA1	2741	HP:0000006	Autosomal dominant inheritance
OMIM:614618	GLRA1	2741	HP:0003593	Infantile onset
OMIM:614618	GLRA1	2741	HP:0000007	Autosomal recessive inheritance
OMIM:614618	GLRA1	2741	HP:0002267	Exaggerated startle response
OMIM:614618	GLRB	2743	HP:0001276	Hypertonia
OMIM:614618	GLRB	2743	HP:0002104	Apnea
OMIM:614618	GLRB	2743	HP:0000006	Autosomal dominant inheritance
OMIM:614618	GLRB	2743	HP:0003593	Infantile onset
OMIM:614618	GLRB	2743	HP:0000007	Autosomal recessive inheritance
OMIM:614618	GLRB	2743	HP:0002267	Exaggerated startle response
OMIM:607625	NPC2	10577	HP:0002240	Hepatomegaly
OMIM:607625	NPC2	10577	HP:0003674	Onset
OMIM:607625	NPC2	10577	HP:0002015	Dysphagia
OMIM:607625	NPC2	10577	HP:0001332	Dystonia
OMIM:607625	NPC2	10577	HP:0002878	Respiratory failure
OMIM:607625	NPC2	10577	HP:0001250	Seizures
OMIM:607625	NPC2	10577	HP:0001251	Ataxia
OMIM:607625	NPC2	10577	HP:0006579	Prolonged neonatal jaundice
OMIM:607625	NPC2	10577	HP:0000726	Dementia
OMIM:607625	NPC2	10577	HP:0001744	Splenomegaly
OMIM:607625	NPC2	10577	HP:0001249	Intellectual disability
OMIM:607625	NPC2	10577	HP:0001252	Muscular hypotonia
OMIM:607625	NPC2	10577	HP:0000733	Stereotypic behavior
OMIM:607625	NPC2	10577	HP:0000007	Autosomal recessive inheritance
OMIM:607625	NPC2	10577	HP:0000709	Psychosis
OMIM:607625	NPC2	10577	HP:0001263	Global developmental delay
OMIM:607625	NPC2	10577	HP:0001257	Spasticity
OMIM:607625	NPC2	10577	HP:0001260	Dysarthria
OMIM:607625	NPC2	10577	HP:0002371	Loss of speech
OMIM:612016	ADCK3	56997	HP:0000007	Autosomal recessive inheritance
OMIM:612016	ADCK3	56997	HP:0001337	Tremor
OMIM:612016	ADCK3	56997	HP:0001250	Seizures
OMIM:612016	ADCK3	56997	HP:0003546	Exercise intolerance
OMIM:612016	ADCK3	56997	HP:0003828	Variable expressivity
OMIM:612016	ADCK3	56997	HP:0003701	Proximal muscle weakness
OMIM:612016	ADCK3	56997	HP:0001761	Pes cavus
OMIM:612016	ADCK3	56997	HP:0001272	Cerebellar atrophy
OMIM:612016	ADCK3	56997	HP:0001252	Muscular hypotonia
OMIM:612016	ADCK3	56997	HP:0003128	Lactic acidosis
OMIM:612016	ADCK3	56997	HP:0001251	Ataxia
OMIM:612016	ADCK3	56997	HP:0007256	Abnormal pyramidal signs
OMIM:612016	ADCK3	56997	HP:0001347	Hyperreflexia
OMIM:612016	ADCK3	56997	HP:0001336	Myoclonus
ORPHANET:201	PTEN	5728	HP:0001903	Anemia
ORPHANET:201	PTEN	5728	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:201	PTEN	5728	HP:0000767	Pectus excavatum
ORPHANET:201	PTEN	5728	HP:0000998	Hypertrichosis
ORPHANET:201	PTEN	5728	HP:0002861	Melanoma
ORPHANET:201	PTEN	5728	HP:0009726	Renal neoplasm
ORPHANET:201	PTEN	5728	HP:0000545	Myopia
ORPHANET:201	PTEN	5728	HP:0000212	Gingival overgrowth
ORPHANET:201	PTEN	5728	HP:0000164	Abnormality of the teeth
ORPHANET:201	PTEN	5728	HP:0000717	Autism
ORPHANET:201	PTEN	5728	HP:0000268	Dolichocephaly
ORPHANET:201	PTEN	5728	HP:0001053	Hypopigmented skin patches
ORPHANET:201	PTEN	5728	HP:0100013	Neoplasm of the breast
ORPHANET:201	PTEN	5728	HP:0000995	Melanocytic nevus
ORPHANET:201	PTEN	5728	HP:0001250	Seizures
ORPHANET:201	PTEN	5728	HP:0000365	Hearing impairment
ORPHANET:201	PTEN	5728	HP:0002858	Meningioma
ORPHANET:201	PTEN	5728	HP:0200008	Intestinal polyposis
ORPHANET:201	PTEN	5728	HP:0000957	Cafe-au-lait spot
ORPHANET:201	PTEN	5728	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:201	PTEN	5728	HP:0100615	Ovarian neoplasm
ORPHANET:201	PTEN	5728	HP:0004322	Short stature
ORPHANET:201	PTEN	5728	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:201	PTEN	5728	HP:0001034	Hypermelanotic macule
ORPHANET:201	PTEN	5728	HP:0002808	Kyphosis
ORPHANET:201	PTEN	5728	HP:0000036	Abnormality of the penis
ORPHANET:201	PTEN	5728	HP:0001156	Brachydactyly syndrome
ORPHANET:201	PTEN	5728	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:201	PTEN	5728	HP:0000982	Palmoplantar keratoderma
ORPHANET:201	PTEN	5728	HP:0000518	Cataract
ORPHANET:201	PTEN	5728	HP:0000853	Goiter
ORPHANET:201	PTEN	5728	HP:0002650	Scoliosis
ORPHANET:201	PTEN	5728	HP:0000147	Polycystic ovaries
ORPHANET:201	PTEN	5728	HP:0000174	Abnormality of the palate
ORPHANET:201	PTEN	5728	HP:0200043	Verrucae
ORPHANET:201	PTEN	5728	HP:0000256	Macrocephaly
ORPHANET:201	KLLN	100144748	HP:0001903	Anemia
ORPHANET:201	KLLN	100144748	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:201	KLLN	100144748	HP:0000767	Pectus excavatum
ORPHANET:201	KLLN	100144748	HP:0000998	Hypertrichosis
ORPHANET:201	KLLN	100144748	HP:0002861	Melanoma
ORPHANET:201	KLLN	100144748	HP:0009726	Renal neoplasm
ORPHANET:201	KLLN	100144748	HP:0000545	Myopia
ORPHANET:201	KLLN	100144748	HP:0000212	Gingival overgrowth
ORPHANET:201	KLLN	100144748	HP:0000164	Abnormality of the teeth
ORPHANET:201	KLLN	100144748	HP:0000717	Autism
ORPHANET:201	KLLN	100144748	HP:0000268	Dolichocephaly
ORPHANET:201	KLLN	100144748	HP:0001053	Hypopigmented skin patches
ORPHANET:201	KLLN	100144748	HP:0100013	Neoplasm of the breast
ORPHANET:201	KLLN	100144748	HP:0000995	Melanocytic nevus
ORPHANET:201	KLLN	100144748	HP:0001250	Seizures
ORPHANET:201	KLLN	100144748	HP:0000365	Hearing impairment
ORPHANET:201	KLLN	100144748	HP:0002858	Meningioma
ORPHANET:201	KLLN	100144748	HP:0200008	Intestinal polyposis
ORPHANET:201	KLLN	100144748	HP:0000957	Cafe-au-lait spot
ORPHANET:201	KLLN	100144748	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:201	KLLN	100144748	HP:0100615	Ovarian neoplasm
ORPHANET:201	KLLN	100144748	HP:0004322	Short stature
ORPHANET:201	KLLN	100144748	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:201	KLLN	100144748	HP:0001034	Hypermelanotic macule
ORPHANET:201	KLLN	100144748	HP:0002808	Kyphosis
ORPHANET:201	KLLN	100144748	HP:0000036	Abnormality of the penis
ORPHANET:201	KLLN	100144748	HP:0001156	Brachydactyly syndrome
ORPHANET:201	KLLN	100144748	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:201	KLLN	100144748	HP:0000982	Palmoplantar keratoderma
ORPHANET:201	KLLN	100144748	HP:0000518	Cataract
ORPHANET:201	KLLN	100144748	HP:0000853	Goiter
ORPHANET:201	KLLN	100144748	HP:0002650	Scoliosis
ORPHANET:201	KLLN	100144748	HP:0000147	Polycystic ovaries
ORPHANET:201	KLLN	100144748	HP:0000174	Abnormality of the palate
ORPHANET:201	KLLN	100144748	HP:0200043	Verrucae
ORPHANET:201	KLLN	100144748	HP:0000256	Macrocephaly
ORPHANET:201	SDHB	6390	HP:0001903	Anemia
ORPHANET:201	SDHB	6390	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:201	SDHB	6390	HP:0000767	Pectus excavatum
ORPHANET:201	SDHB	6390	HP:0000998	Hypertrichosis
ORPHANET:201	SDHB	6390	HP:0002861	Melanoma
ORPHANET:201	SDHB	6390	HP:0009726	Renal neoplasm
ORPHANET:201	SDHB	6390	HP:0000545	Myopia
ORPHANET:201	SDHB	6390	HP:0000212	Gingival overgrowth
ORPHANET:201	SDHB	6390	HP:0000164	Abnormality of the teeth
ORPHANET:201	SDHB	6390	HP:0000717	Autism
ORPHANET:201	SDHB	6390	HP:0000268	Dolichocephaly
ORPHANET:201	SDHB	6390	HP:0001053	Hypopigmented skin patches
ORPHANET:201	SDHB	6390	HP:0100013	Neoplasm of the breast
ORPHANET:201	SDHB	6390	HP:0000995	Melanocytic nevus
ORPHANET:201	SDHB	6390	HP:0001250	Seizures
ORPHANET:201	SDHB	6390	HP:0000365	Hearing impairment
ORPHANET:201	SDHB	6390	HP:0002858	Meningioma
ORPHANET:201	SDHB	6390	HP:0200008	Intestinal polyposis
ORPHANET:201	SDHB	6390	HP:0000957	Cafe-au-lait spot
ORPHANET:201	SDHB	6390	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:201	SDHB	6390	HP:0100615	Ovarian neoplasm
ORPHANET:201	SDHB	6390	HP:0004322	Short stature
ORPHANET:201	SDHB	6390	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:201	SDHB	6390	HP:0001034	Hypermelanotic macule
ORPHANET:201	SDHB	6390	HP:0002808	Kyphosis
ORPHANET:201	SDHB	6390	HP:0000036	Abnormality of the penis
ORPHANET:201	SDHB	6390	HP:0001156	Brachydactyly syndrome
ORPHANET:201	SDHB	6390	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:201	SDHB	6390	HP:0000982	Palmoplantar keratoderma
ORPHANET:201	SDHB	6390	HP:0000518	Cataract
ORPHANET:201	SDHB	6390	HP:0000853	Goiter
ORPHANET:201	SDHB	6390	HP:0002650	Scoliosis
ORPHANET:201	SDHB	6390	HP:0000147	Polycystic ovaries
ORPHANET:201	SDHB	6390	HP:0000174	Abnormality of the palate
ORPHANET:201	SDHB	6390	HP:0200043	Verrucae
ORPHANET:201	SDHB	6390	HP:0000256	Macrocephaly
ORPHANET:201	SDHC	6391	HP:0001903	Anemia
ORPHANET:201	SDHC	6391	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:201	SDHC	6391	HP:0000767	Pectus excavatum
ORPHANET:201	SDHC	6391	HP:0000998	Hypertrichosis
ORPHANET:201	SDHC	6391	HP:0002861	Melanoma
ORPHANET:201	SDHC	6391	HP:0009726	Renal neoplasm
ORPHANET:201	SDHC	6391	HP:0000545	Myopia
ORPHANET:201	SDHC	6391	HP:0000212	Gingival overgrowth
ORPHANET:201	SDHC	6391	HP:0000164	Abnormality of the teeth
ORPHANET:201	SDHC	6391	HP:0000717	Autism
ORPHANET:201	SDHC	6391	HP:0000268	Dolichocephaly
ORPHANET:201	SDHC	6391	HP:0001053	Hypopigmented skin patches
ORPHANET:201	SDHC	6391	HP:0100013	Neoplasm of the breast
ORPHANET:201	SDHC	6391	HP:0000995	Melanocytic nevus
ORPHANET:201	SDHC	6391	HP:0001250	Seizures
ORPHANET:201	SDHC	6391	HP:0000365	Hearing impairment
ORPHANET:201	SDHC	6391	HP:0002858	Meningioma
ORPHANET:201	SDHC	6391	HP:0200008	Intestinal polyposis
ORPHANET:201	SDHC	6391	HP:0000957	Cafe-au-lait spot
ORPHANET:201	SDHC	6391	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:201	SDHC	6391	HP:0100615	Ovarian neoplasm
ORPHANET:201	SDHC	6391	HP:0004322	Short stature
ORPHANET:201	SDHC	6391	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:201	SDHC	6391	HP:0001034	Hypermelanotic macule
ORPHANET:201	SDHC	6391	HP:0002808	Kyphosis
ORPHANET:201	SDHC	6391	HP:0000036	Abnormality of the penis
ORPHANET:201	SDHC	6391	HP:0001156	Brachydactyly syndrome
ORPHANET:201	SDHC	6391	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:201	SDHC	6391	HP:0000982	Palmoplantar keratoderma
ORPHANET:201	SDHC	6391	HP:0000518	Cataract
ORPHANET:201	SDHC	6391	HP:0000853	Goiter
ORPHANET:201	SDHC	6391	HP:0002650	Scoliosis
ORPHANET:201	SDHC	6391	HP:0000147	Polycystic ovaries
ORPHANET:201	SDHC	6391	HP:0000174	Abnormality of the palate
ORPHANET:201	SDHC	6391	HP:0200043	Verrucae
ORPHANET:201	SDHC	6391	HP:0000256	Macrocephaly
ORPHANET:201	SDHD	6392	HP:0001903	Anemia
ORPHANET:201	SDHD	6392	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:201	SDHD	6392	HP:0000767	Pectus excavatum
ORPHANET:201	SDHD	6392	HP:0000998	Hypertrichosis
ORPHANET:201	SDHD	6392	HP:0002861	Melanoma
ORPHANET:201	SDHD	6392	HP:0009726	Renal neoplasm
ORPHANET:201	SDHD	6392	HP:0000545	Myopia
ORPHANET:201	SDHD	6392	HP:0000212	Gingival overgrowth
ORPHANET:201	SDHD	6392	HP:0000164	Abnormality of the teeth
ORPHANET:201	SDHD	6392	HP:0000717	Autism
ORPHANET:201	SDHD	6392	HP:0000268	Dolichocephaly
ORPHANET:201	SDHD	6392	HP:0001053	Hypopigmented skin patches
ORPHANET:201	SDHD	6392	HP:0100013	Neoplasm of the breast
ORPHANET:201	SDHD	6392	HP:0000995	Melanocytic nevus
ORPHANET:201	SDHD	6392	HP:0001250	Seizures
ORPHANET:201	SDHD	6392	HP:0000365	Hearing impairment
ORPHANET:201	SDHD	6392	HP:0002858	Meningioma
ORPHANET:201	SDHD	6392	HP:0200008	Intestinal polyposis
ORPHANET:201	SDHD	6392	HP:0000957	Cafe-au-lait spot
ORPHANET:201	SDHD	6392	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:201	SDHD	6392	HP:0100615	Ovarian neoplasm
ORPHANET:201	SDHD	6392	HP:0004322	Short stature
ORPHANET:201	SDHD	6392	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:201	SDHD	6392	HP:0001034	Hypermelanotic macule
ORPHANET:201	SDHD	6392	HP:0002808	Kyphosis
ORPHANET:201	SDHD	6392	HP:0000036	Abnormality of the penis
ORPHANET:201	SDHD	6392	HP:0001156	Brachydactyly syndrome
ORPHANET:201	SDHD	6392	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:201	SDHD	6392	HP:0000982	Palmoplantar keratoderma
ORPHANET:201	SDHD	6392	HP:0000518	Cataract
ORPHANET:201	SDHD	6392	HP:0000853	Goiter
ORPHANET:201	SDHD	6392	HP:0002650	Scoliosis
ORPHANET:201	SDHD	6392	HP:0000147	Polycystic ovaries
ORPHANET:201	SDHD	6392	HP:0000174	Abnormality of the palate
ORPHANET:201	SDHD	6392	HP:0200043	Verrucae
ORPHANET:201	SDHD	6392	HP:0000256	Macrocephaly
ORPHANET:201	PIK3CA	5290	HP:0001903	Anemia
ORPHANET:201	PIK3CA	5290	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:201	PIK3CA	5290	HP:0000767	Pectus excavatum
ORPHANET:201	PIK3CA	5290	HP:0000998	Hypertrichosis
ORPHANET:201	PIK3CA	5290	HP:0002861	Melanoma
ORPHANET:201	PIK3CA	5290	HP:0009726	Renal neoplasm
ORPHANET:201	PIK3CA	5290	HP:0000545	Myopia
ORPHANET:201	PIK3CA	5290	HP:0000212	Gingival overgrowth
ORPHANET:201	PIK3CA	5290	HP:0000164	Abnormality of the teeth
ORPHANET:201	PIK3CA	5290	HP:0000717	Autism
ORPHANET:201	PIK3CA	5290	HP:0000268	Dolichocephaly
ORPHANET:201	PIK3CA	5290	HP:0001053	Hypopigmented skin patches
ORPHANET:201	PIK3CA	5290	HP:0100013	Neoplasm of the breast
ORPHANET:201	PIK3CA	5290	HP:0000995	Melanocytic nevus
ORPHANET:201	PIK3CA	5290	HP:0001250	Seizures
ORPHANET:201	PIK3CA	5290	HP:0000365	Hearing impairment
ORPHANET:201	PIK3CA	5290	HP:0002858	Meningioma
ORPHANET:201	PIK3CA	5290	HP:0200008	Intestinal polyposis
ORPHANET:201	PIK3CA	5290	HP:0000957	Cafe-au-lait spot
ORPHANET:201	PIK3CA	5290	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:201	PIK3CA	5290	HP:0100615	Ovarian neoplasm
ORPHANET:201	PIK3CA	5290	HP:0004322	Short stature
ORPHANET:201	PIK3CA	5290	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:201	PIK3CA	5290	HP:0001034	Hypermelanotic macule
ORPHANET:201	PIK3CA	5290	HP:0002808	Kyphosis
ORPHANET:201	PIK3CA	5290	HP:0000036	Abnormality of the penis
ORPHANET:201	PIK3CA	5290	HP:0001156	Brachydactyly syndrome
ORPHANET:201	PIK3CA	5290	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:201	PIK3CA	5290	HP:0000982	Palmoplantar keratoderma
ORPHANET:201	PIK3CA	5290	HP:0000518	Cataract
ORPHANET:201	PIK3CA	5290	HP:0000853	Goiter
ORPHANET:201	PIK3CA	5290	HP:0002650	Scoliosis
ORPHANET:201	PIK3CA	5290	HP:0000147	Polycystic ovaries
ORPHANET:201	PIK3CA	5290	HP:0000174	Abnormality of the palate
ORPHANET:201	PIK3CA	5290	HP:0200043	Verrucae
ORPHANET:201	PIK3CA	5290	HP:0000256	Macrocephaly
ORPHANET:201	AKT1	207	HP:0001903	Anemia
ORPHANET:201	AKT1	207	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:201	AKT1	207	HP:0000767	Pectus excavatum
ORPHANET:201	AKT1	207	HP:0000998	Hypertrichosis
ORPHANET:201	AKT1	207	HP:0002861	Melanoma
ORPHANET:201	AKT1	207	HP:0009726	Renal neoplasm
ORPHANET:201	AKT1	207	HP:0000545	Myopia
ORPHANET:201	AKT1	207	HP:0000212	Gingival overgrowth
ORPHANET:201	AKT1	207	HP:0000164	Abnormality of the teeth
ORPHANET:201	AKT1	207	HP:0000717	Autism
ORPHANET:201	AKT1	207	HP:0000268	Dolichocephaly
ORPHANET:201	AKT1	207	HP:0001053	Hypopigmented skin patches
ORPHANET:201	AKT1	207	HP:0100013	Neoplasm of the breast
ORPHANET:201	AKT1	207	HP:0000995	Melanocytic nevus
ORPHANET:201	AKT1	207	HP:0001250	Seizures
ORPHANET:201	AKT1	207	HP:0000365	Hearing impairment
ORPHANET:201	AKT1	207	HP:0002858	Meningioma
ORPHANET:201	AKT1	207	HP:0200008	Intestinal polyposis
ORPHANET:201	AKT1	207	HP:0000957	Cafe-au-lait spot
ORPHANET:201	AKT1	207	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:201	AKT1	207	HP:0100615	Ovarian neoplasm
ORPHANET:201	AKT1	207	HP:0004322	Short stature
ORPHANET:201	AKT1	207	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:201	AKT1	207	HP:0001034	Hypermelanotic macule
ORPHANET:201	AKT1	207	HP:0002808	Kyphosis
ORPHANET:201	AKT1	207	HP:0000036	Abnormality of the penis
ORPHANET:201	AKT1	207	HP:0001156	Brachydactyly syndrome
ORPHANET:201	AKT1	207	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:201	AKT1	207	HP:0000982	Palmoplantar keratoderma
ORPHANET:201	AKT1	207	HP:0000518	Cataract
ORPHANET:201	AKT1	207	HP:0000853	Goiter
ORPHANET:201	AKT1	207	HP:0002650	Scoliosis
ORPHANET:201	AKT1	207	HP:0000147	Polycystic ovaries
ORPHANET:201	AKT1	207	HP:0000174	Abnormality of the palate
ORPHANET:201	AKT1	207	HP:0200043	Verrucae
ORPHANET:201	AKT1	207	HP:0000256	Macrocephaly
OMIM:614841	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:614841	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:614841	PROK2	60675	HP:0000458	Anosmia
OMIM:614841	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:614841	PROK2	60675	HP:0000054	Micropenis
OMIM:614841	PROK2	60675	HP:0008734	Decreased testicular size
OMIM:614841	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:614841	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:614841	PROKR2	128674	HP:0000458	Anosmia
OMIM:614841	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:614841	PROKR2	128674	HP:0000054	Micropenis
OMIM:614841	PROKR2	128674	HP:0008734	Decreased testicular size
OMIM:614841	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:614841	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:614841	WDR11	55717	HP:0000458	Anosmia
OMIM:614841	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:614841	WDR11	55717	HP:0000054	Micropenis
OMIM:614841	WDR11	55717	HP:0008734	Decreased testicular size
OMIM:614841	KISS1	3814	HP:0000786	Primary amenorrhea
OMIM:614841	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	KISS1	3814	HP:0000006	Autosomal dominant inheritance
OMIM:614841	KISS1	3814	HP:0000458	Anosmia
OMIM:614841	KISS1	3814	HP:0000028	Cryptorchidism
OMIM:614841	KISS1	3814	HP:0000054	Micropenis
OMIM:614841	KISS1	3814	HP:0008734	Decreased testicular size
OMIM:614841	GNRH1	2796	HP:0000786	Primary amenorrhea
OMIM:614841	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	GNRH1	2796	HP:0000006	Autosomal dominant inheritance
OMIM:614841	GNRH1	2796	HP:0000458	Anosmia
OMIM:614841	GNRH1	2796	HP:0000028	Cryptorchidism
OMIM:614841	GNRH1	2796	HP:0000054	Micropenis
OMIM:614841	GNRH1	2796	HP:0008734	Decreased testicular size
OMIM:614841	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:614841	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:614841	FGF8	2253	HP:0000458	Anosmia
OMIM:614841	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:614841	FGF8	2253	HP:0000054	Micropenis
OMIM:614841	FGF8	2253	HP:0008734	Decreased testicular size
OMIM:614841	GNRHR	2798	HP:0000786	Primary amenorrhea
OMIM:614841	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	GNRHR	2798	HP:0000006	Autosomal dominant inheritance
OMIM:614841	GNRHR	2798	HP:0000458	Anosmia
OMIM:614841	GNRHR	2798	HP:0000028	Cryptorchidism
OMIM:614841	GNRHR	2798	HP:0000054	Micropenis
OMIM:614841	GNRHR	2798	HP:0008734	Decreased testicular size
OMIM:614841	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:614841	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	ANOS1	3730	HP:0000006	Autosomal dominant inheritance
OMIM:614841	ANOS1	3730	HP:0000458	Anosmia
OMIM:614841	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:614841	ANOS1	3730	HP:0000054	Micropenis
OMIM:614841	ANOS1	3730	HP:0008734	Decreased testicular size
OMIM:614841	TAC3	6866	HP:0000786	Primary amenorrhea
OMIM:614841	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	TAC3	6866	HP:0000006	Autosomal dominant inheritance
OMIM:614841	TAC3	6866	HP:0000458	Anosmia
OMIM:614841	TAC3	6866	HP:0000028	Cryptorchidism
OMIM:614841	TAC3	6866	HP:0000054	Micropenis
OMIM:614841	TAC3	6866	HP:0008734	Decreased testicular size
OMIM:614841	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:614841	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	HS6ST1	9394	HP:0000006	Autosomal dominant inheritance
OMIM:614841	HS6ST1	9394	HP:0000458	Anosmia
OMIM:614841	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:614841	HS6ST1	9394	HP:0000054	Micropenis
OMIM:614841	HS6ST1	9394	HP:0008734	Decreased testicular size
OMIM:614841	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:614841	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:614841	CHD7	55636	HP:0000458	Anosmia
OMIM:614841	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:614841	CHD7	55636	HP:0000054	Micropenis
OMIM:614841	CHD7	55636	HP:0008734	Decreased testicular size
OMIM:614841	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:614841	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:614841	FGFR1	2260	HP:0000458	Anosmia
OMIM:614841	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:614841	FGFR1	2260	HP:0000054	Micropenis
OMIM:614841	FGFR1	2260	HP:0008734	Decreased testicular size
OMIM:614841	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:614841	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	TACR3	6870	HP:0000006	Autosomal dominant inheritance
OMIM:614841	TACR3	6870	HP:0000458	Anosmia
OMIM:614841	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:614841	TACR3	6870	HP:0000054	Micropenis
OMIM:614841	TACR3	6870	HP:0008734	Decreased testicular size
OMIM:614841	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:614841	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:614841	FGF17	8822	HP:0000458	Anosmia
OMIM:614841	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:614841	FGF17	8822	HP:0000054	Micropenis
OMIM:614841	FGF17	8822	HP:0008734	Decreased testicular size
OMIM:614841	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:614841	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:614841	DUSP6	1848	HP:0000458	Anosmia
OMIM:614841	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:614841	DUSP6	1848	HP:0000054	Micropenis
OMIM:614841	DUSP6	1848	HP:0008734	Decreased testicular size
OMIM:614841	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:614841	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:614841	SPRY4	81848	HP:0000458	Anosmia
OMIM:614841	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:614841	SPRY4	81848	HP:0000054	Micropenis
OMIM:614841	SPRY4	81848	HP:0008734	Decreased testicular size
OMIM:614841	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:614841	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:614841	KISS1R	84634	HP:0000458	Anosmia
OMIM:614841	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:614841	KISS1R	84634	HP:0000054	Micropenis
OMIM:614841	KISS1R	84634	HP:0008734	Decreased testicular size
OMIM:614841	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:614841	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614841	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:614841	NSMF	26012	HP:0000458	Anosmia
OMIM:614841	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:614841	NSMF	26012	HP:0000054	Micropenis
OMIM:614841	NSMF	26012	HP:0008734	Decreased testicular size
OMIM:609640	BMP4	652	HP:0000954	Single transverse palmar crease
OMIM:609640	BMP4	652	HP:0008678	Renal hypoplasia/aplasia
OMIM:609640	BMP4	652	HP:0000413	Atresia of the external auditory canal
OMIM:609640	BMP4	652	HP:0000028	Cryptorchidism
OMIM:609640	BMP4	652	HP:0100543	Cognitive impairment
OMIM:609640	BMP4	652	HP:0004322	Short stature
OMIM:609640	BMP4	652	HP:0000648	Optic atrophy
OMIM:609640	BMP4	652	HP:0000046	Scrotal hypoplasia
OMIM:609640	BMP4	652	HP:0001770	Toe syndactyly
OMIM:609640	BMP4	652	HP:0000316	Hypertelorism
OMIM:609640	BMP4	652	HP:0001163	Abnormality of the metacarpal bones
OMIM:609640	BMP4	652	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:609640	BMP4	652	HP:0001557	Prenatal movement abnormality
OMIM:609640	BMP4	652	HP:0004209	Clinodactyly of the 5th finger
OMIM:609640	BMP4	652	HP:0000494	Downslanted palpebral fissures
OMIM:609640	BMP4	652	HP:0000358	Posteriorly rotated ears
OMIM:609640	BMP4	652	HP:0002119	Ventriculomegaly
OMIM:609640	BMP4	652	HP:0002648	Abnormality of calvarial morphology
OMIM:609640	BMP4	652	HP:0000347	Micrognathia
OMIM:609640	BMP4	652	HP:0000378	Cupped ear
OMIM:609640	BMP4	652	HP:0001156	Brachydactyly syndrome
OMIM:609640	BMP4	652	HP:0002714	Downturned corners of mouth
OMIM:609640	BMP4	652	HP:0002750	Delayed skeletal maturation
OMIM:609640	BMP4	652	HP:0000508	Ptosis
OMIM:609640	BMP4	652	HP:0000272	Malar flattening
OMIM:609640	BMP4	652	HP:0008572	External ear malformation
OMIM:609640	BMP4	652	HP:0001831	Short toe
OMIM:609640	BMP4	652	HP:0000365	Hearing impairment
OMIM:609640	BMP4	652	HP:0000430	Underdeveloped nasal alae
OMIM:609640	BMP4	652	HP:0006101	Finger syndactyly
OMIM:609640	BMP4	652	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:609640	BMP4	652	HP:0008207	Primary adrenal insufficiency
OMIM:609640	BMP4	652	HP:0001252	Muscular hypotonia
OMIM:609640	BMP4	652	HP:0000830	Anterior hypopituitarism
OMIM:609640	BMP4	652	HP:0000873	Diabetes insipidus
OMIM:609640	BMP4	652	HP:0000348	High forehead
OMIM:609640	BMP4	652	HP:0001263	Global developmental delay
OMIM:609640	BMP4	652	HP:0000520	Proptosis
OMIM:609640	SIX6	4990	HP:0000954	Single transverse palmar crease
OMIM:609640	SIX6	4990	HP:0008678	Renal hypoplasia/aplasia
OMIM:609640	SIX6	4990	HP:0000413	Atresia of the external auditory canal
OMIM:609640	SIX6	4990	HP:0000028	Cryptorchidism
OMIM:609640	SIX6	4990	HP:0100543	Cognitive impairment
OMIM:609640	SIX6	4990	HP:0004322	Short stature
OMIM:609640	SIX6	4990	HP:0000648	Optic atrophy
OMIM:609640	SIX6	4990	HP:0000046	Scrotal hypoplasia
OMIM:609640	SIX6	4990	HP:0001770	Toe syndactyly
OMIM:609640	SIX6	4990	HP:0000316	Hypertelorism
OMIM:609640	SIX6	4990	HP:0001163	Abnormality of the metacarpal bones
OMIM:609640	SIX6	4990	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:609640	SIX6	4990	HP:0001557	Prenatal movement abnormality
OMIM:609640	SIX6	4990	HP:0004209	Clinodactyly of the 5th finger
OMIM:609640	SIX6	4990	HP:0000494	Downslanted palpebral fissures
OMIM:609640	SIX6	4990	HP:0000358	Posteriorly rotated ears
OMIM:609640	SIX6	4990	HP:0002119	Ventriculomegaly
OMIM:609640	SIX6	4990	HP:0002648	Abnormality of calvarial morphology
OMIM:609640	SIX6	4990	HP:0000347	Micrognathia
OMIM:609640	SIX6	4990	HP:0000378	Cupped ear
OMIM:609640	SIX6	4990	HP:0001156	Brachydactyly syndrome
OMIM:609640	SIX6	4990	HP:0002714	Downturned corners of mouth
OMIM:609640	SIX6	4990	HP:0002750	Delayed skeletal maturation
OMIM:609640	SIX6	4990	HP:0000508	Ptosis
OMIM:609640	SIX6	4990	HP:0000272	Malar flattening
OMIM:609640	SIX6	4990	HP:0008572	External ear malformation
OMIM:609640	SIX6	4990	HP:0001831	Short toe
OMIM:609640	SIX6	4990	HP:0000365	Hearing impairment
OMIM:609640	SIX6	4990	HP:0000430	Underdeveloped nasal alae
OMIM:609640	SIX6	4990	HP:0006101	Finger syndactyly
OMIM:609640	SIX6	4990	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:609640	SIX6	4990	HP:0008207	Primary adrenal insufficiency
OMIM:609640	SIX6	4990	HP:0001252	Muscular hypotonia
OMIM:609640	SIX6	4990	HP:0000830	Anterior hypopituitarism
OMIM:609640	SIX6	4990	HP:0000873	Diabetes insipidus
OMIM:609640	SIX6	4990	HP:0000348	High forehead
OMIM:609640	SIX6	4990	HP:0001263	Global developmental delay
OMIM:609640	SIX6	4990	HP:0000520	Proptosis
OMIM:115080	SCN1B	6324	HP:0001279	Syncope
OMIM:115080	SCN1B	6324	HP:0011675	Arrhythmia
OMIM:115080	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:115080	SCN1B	6324	HP:0001699	Sudden death
OMIM:115080	NKX2-5	1482	HP:0001279	Syncope
OMIM:115080	NKX2-5	1482	HP:0011675	Arrhythmia
OMIM:115080	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:115080	NKX2-5	1482	HP:0001699	Sudden death
OMIM:115080	SCN5A	6331	HP:0001279	Syncope
OMIM:115080	SCN5A	6331	HP:0011675	Arrhythmia
OMIM:115080	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:115080	SCN5A	6331	HP:0001699	Sudden death
OMIM:115080	TRPM4	54795	HP:0001279	Syncope
OMIM:115080	TRPM4	54795	HP:0011675	Arrhythmia
OMIM:115080	TRPM4	54795	HP:0000006	Autosomal dominant inheritance
OMIM:115080	TRPM4	54795	HP:0001699	Sudden death
OMIM:610535	CYP1B1	1545	HP:0000006	Autosomal dominant inheritance
OMIM:610535	CYP1B1	1545	HP:0001133	Constriction of peripheral visual field
OMIM:610535	MYOC	4653	HP:0000006	Autosomal dominant inheritance
OMIM:610535	MYOC	4653	HP:0001133	Constriction of peripheral visual field
OMIM:176390	PSG1	5669	HP:0010701	Abnormal immunoglobulin level
OMIM:176390	PSG1	5669	HP:0000006	Autosomal dominant inheritance
OMIM:612923	CFI	3426	HP:0003259	Elevated serum creatinine
OMIM:612923	CFI	3426	HP:0000006	Autosomal dominant inheritance
OMIM:612923	CFI	3426	HP:0000790	Hematuria
OMIM:612923	CFI	3426	HP:0001873	Thrombocytopenia
OMIM:612923	CFI	3426	HP:0100519	Anuria
OMIM:612923	CFI	3426	HP:0000822	Hypertension
OMIM:612923	CFI	3426	HP:0001937	Microangiopathic hemolytic anemia
OMIM:612923	CFI	3426	HP:0001919	Acute kidney injury
OMIM:612923	CFI	3426	HP:0003138	Increased blood urea nitrogen (BUN)
OMIM:612923	CFI	3426	HP:0000093	Proteinuria
OMIM:612923	CFI	3426	HP:0005575	Hemolytic-uremic syndrome
OMIM:616230	CERS1	10715	HP:0000726	Dementia
OMIM:616230	CERS1	10715	HP:0002069	Generalized tonic-clonic seizures
OMIM:616230	CERS1	10715	HP:0001249	Intellectual disability
ORPHANET:170	LPAR6	10161	HP:0000486	Strabismus
ORPHANET:170	LPAR6	10161	HP:0000518	Cataract
ORPHANET:170	LPAR6	10161	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:170	LPAR6	10161	HP:0002213	Fine hair
ORPHANET:170	LPAR6	10161	HP:0005599	Hypopigmentation of hair
ORPHANET:170	LPAR6	10161	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:170	LPAR6	10161	HP:0002217	Slow-growing hair
ORPHANET:170	LPAR6	10161	HP:0000615	Abnormality of the pupil
ORPHANET:170	LPAR6	10161	HP:0002224	Woolly hair
ORPHANET:170	LPAR6	10161	HP:0011362	Abnormal hair quantity
ORPHANET:170	KRT71	112802	HP:0000486	Strabismus
ORPHANET:170	KRT71	112802	HP:0000518	Cataract
ORPHANET:170	KRT71	112802	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:170	KRT71	112802	HP:0002213	Fine hair
ORPHANET:170	KRT71	112802	HP:0005599	Hypopigmentation of hair
ORPHANET:170	KRT71	112802	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:170	KRT71	112802	HP:0002217	Slow-growing hair
ORPHANET:170	KRT71	112802	HP:0000615	Abnormality of the pupil
ORPHANET:170	KRT71	112802	HP:0002224	Woolly hair
ORPHANET:170	KRT71	112802	HP:0011362	Abnormal hair quantity
ORPHANET:170	LIPH	200879	HP:0000486	Strabismus
ORPHANET:170	LIPH	200879	HP:0000518	Cataract
ORPHANET:170	LIPH	200879	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:170	LIPH	200879	HP:0002213	Fine hair
ORPHANET:170	LIPH	200879	HP:0005599	Hypopigmentation of hair
ORPHANET:170	LIPH	200879	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:170	LIPH	200879	HP:0002217	Slow-growing hair
ORPHANET:170	LIPH	200879	HP:0000615	Abnormality of the pupil
ORPHANET:170	LIPH	200879	HP:0002224	Woolly hair
ORPHANET:170	LIPH	200879	HP:0011362	Abnormal hair quantity
ORPHANET:170	KRT74	121391	HP:0000486	Strabismus
ORPHANET:170	KRT74	121391	HP:0000518	Cataract
ORPHANET:170	KRT74	121391	HP:0008046	Abnormality of the retinal vasculature
ORPHANET:170	KRT74	121391	HP:0002213	Fine hair
ORPHANET:170	KRT74	121391	HP:0005599	Hypopigmentation of hair
ORPHANET:170	KRT74	121391	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:170	KRT74	121391	HP:0002217	Slow-growing hair
ORPHANET:170	KRT74	121391	HP:0000615	Abnormality of the pupil
ORPHANET:170	KRT74	121391	HP:0002224	Woolly hair
ORPHANET:170	KRT74	121391	HP:0011362	Abnormal hair quantity
OMIM:614878	PLCG2	5336	HP:0000518	Cataract
OMIM:614878	PLCG2	5336	HP:0002829	Arthralgia
OMIM:614878	PLCG2	5336	HP:0000006	Autosomal dominant inheritance
OMIM:614878	PLCG2	5336	HP:0100658	Cellulitis
OMIM:614878	PLCG2	5336	HP:0002719	Recurrent infections
OMIM:614878	PLCG2	5336	HP:0003593	Infantile onset
OMIM:607685	PDGFRA	5156	HP:0003745	Sporadic
OMIM:607685	PDGFRA	5156	HP:0005547	Myeloproliferative disorder
OMIM:607685	PDGFRA	5156	HP:0001723	Restrictive cardiomyopathy
OMIM:607685	PDGFRA	5156	HP:0001880	Eosinophilia
OMIM:607685	PDGFRA	5156	HP:0006685	Endocardial fibrosis
OMIM:607685	PDGFRA	5156	HP:0001428	Somatic mutation
OMIM:607685	PDGFRA	5156	HP:0002113	Pulmonary infiltrates
OMIM:607685	PDGFRA	5156	HP:0002240	Hepatomegaly
OMIM:607685	PDGFRA	5156	HP:0000707	Abnormality of the nervous system
OMIM:607685	PDGFRA	5156	HP:0000989	Pruritus
OMIM:607685	PDGFRA	5156	HP:0001744	Splenomegaly
OMIM:607685	PDGFRA	5156	HP:0004936	Venous thrombosis
OMIM:607685	PDGFRA	5156	HP:0003326	Myalgia
OMIM:613661	ALG11	440138	HP:0001250	Seizures
OMIM:613661	ALG11	440138	HP:0002013	Vomiting
OMIM:613661	ALG11	440138	HP:0011968	Feeding difficulties
OMIM:613661	ALG11	440138	HP:0000486	Strabismus
OMIM:613661	ALG11	440138	HP:0001319	Neonatal hypotonia
OMIM:613661	ALG11	440138	HP:0002179	Opisthotonus
OMIM:613661	ALG11	440138	HP:0000007	Autosomal recessive inheritance
OMIM:613661	ALG11	440138	HP:0000252	Microcephaly
OMIM:613661	ALG11	440138	HP:0001263	Global developmental delay
OMIM:613661	ALG11	440138	HP:0001344	Absent speech
OMIM:613661	ALG11	440138	HP:0000348	High forehead
OMIM:613661	ALG11	440138	HP:0000407	Sensorineural hearing impairment
OMIM:613661	ALG11	440138	HP:0003593	Infantile onset
OMIM:176200	PPOX	5498	HP:0002027	Abdominal pain
OMIM:176200	PPOX	5498	HP:0002019	Constipation
OMIM:176200	PPOX	5498	HP:0000006	Autosomal dominant inheritance
OMIM:176200	PPOX	5498	HP:0000992	Cutaneous photosensitivity
OMIM:176200	PPOX	5498	HP:0009830	Peripheral neuropathy
OMIM:176200	PPOX	5498	HP:0001649	Tachycardia
OMIM:176200	PPOX	5498	HP:0000963	Thin skin
OMIM:176200	PPOX	5498	HP:0002013	Vomiting
OMIM:176200	PPOX	5498	HP:0000709	Psychosis
OMIM:176200	PPOX	5498	HP:0007440	Generalized hyperpigmentation
OMIM:604559	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:604559	SCN1B	6324	HP:0001279	Syncope
OMIM:604559	SCN1B	6324	HP:0001662	Bradycardia
OMIM:604559	SCN1B	6324	HP:0001657	Prolonged QT interval
OMIM:604559	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:604559	NKX2-5	1482	HP:0001279	Syncope
OMIM:604559	NKX2-5	1482	HP:0001662	Bradycardia
OMIM:604559	NKX2-5	1482	HP:0001657	Prolonged QT interval
OMIM:604559	TRPM4	54795	HP:0000006	Autosomal dominant inheritance
OMIM:604559	TRPM4	54795	HP:0001279	Syncope
OMIM:604559	TRPM4	54795	HP:0001662	Bradycardia
OMIM:604559	TRPM4	54795	HP:0001657	Prolonged QT interval
OMIM:604559	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:604559	SCN5A	6331	HP:0001279	Syncope
OMIM:604559	SCN5A	6331	HP:0001662	Bradycardia
OMIM:604559	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:601399	RUNX1	861	HP:0000421	Epistaxis
OMIM:601399	RUNX1	861	HP:0003006	Neuroblastoma
OMIM:601399	RUNX1	861	HP:0000006	Autosomal dominant inheritance
OMIM:601399	RUNX1	861	HP:0003540	Impaired platelet aggregation
OMIM:601399	RUNX1	861	HP:0002665	Lymphoma
OMIM:601399	RUNX1	861	HP:0000978	Bruising susceptibility
OMIM:601399	RUNX1	861	HP:0001873	Thrombocytopenia
OMIM:601399	RUNX1	861	HP:0002863	Myelodysplasia
OMIM:601399	RUNX1	861	HP:0003010	Prolonged bleeding time
OMIM:613563	CBL	867	HP:0001650	Aortic valve stenosis
OMIM:613563	CBL	867	HP:0005280	Depressed nasal bridge
OMIM:613563	CBL	867	HP:0001647	Bicuspid aortic valve
OMIM:613563	CBL	867	HP:0000343	Long philtrum
OMIM:613563	CBL	867	HP:0002007	Frontal bossing
OMIM:613563	CBL	867	HP:0000316	Hypertelorism
OMIM:613563	CBL	867	HP:0000006	Autosomal dominant inheritance
OMIM:613563	CBL	867	HP:0000369	Low-set ears
OMIM:613563	CBL	867	HP:0001252	Muscular hypotonia
OMIM:613563	CBL	867	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:613563	CBL	867	HP:0000750	Delayed speech and language development
OMIM:613563	CBL	867	HP:0002967	Cubitus valgus
OMIM:613563	CBL	867	HP:0000028	Cryptorchidism
OMIM:613563	CBL	867	HP:0006610	Wide intermamillary distance
OMIM:613563	CBL	867	HP:0001653	Mitral regurgitation
OMIM:613563	CBL	867	HP:0001561	Polyhydramnios
OMIM:613563	CBL	867	HP:0012471	Thick vermilion border
OMIM:613563	CBL	867	HP:0004322	Short stature
OMIM:613563	CBL	867	HP:0000400	Macrotia
OMIM:613563	CBL	867	HP:0000470	Short neck
OMIM:613563	CBL	867	HP:0001004	Lymphedema
OMIM:613563	CBL	867	HP:0000325	Triangular face
OMIM:613563	CBL	867	HP:0000465	Webbed neck
OMIM:613563	CBL	867	HP:0000508	Ptosis
OMIM:613563	CBL	867	HP:0000957	Cafe-au-lait spot
OMIM:613563	CBL	867	HP:0001388	Joint laxity
OMIM:613563	CBL	867	HP:0000767	Pectus excavatum
OMIM:613563	CBL	867	HP:0001263	Global developmental delay
OMIM:613563	CBL	867	HP:0000286	Epicanthus
OMIM:613563	CBL	867	HP:0000358	Posteriorly rotated ears
OMIM:613563	CBL	867	HP:0000494	Downslanted palpebral fissures
OMIM:613563	CBL	867	HP:0001382	Joint hypermobility
OMIM:613563	CBL	867	HP:0008070	Sparse hair
OMIM:605814	SLC25A13	10165	HP:0003124	Hypercholesterolemia
OMIM:605814	SLC25A13	10165	HP:0003233	Hypoalphalipoproteinemia
OMIM:605814	SLC25A13	10165	HP:0002155	Hypertriglyceridemia
OMIM:605814	SLC25A13	10165	HP:0003235	Hypermethioninemia
OMIM:605814	SLC25A13	10165	HP:0002904	Hyperbilirubinemia
OMIM:605814	SLC25A13	10165	HP:0000007	Autosomal recessive inheritance
OMIM:605814	SLC25A13	10165	HP:0001508	Failure to thrive
OMIM:605814	SLC25A13	10165	HP:0001394	Cirrhosis
OMIM:605814	SLC25A13	10165	HP:0001406	Intrahepatic cholestasis
OMIM:605814	SLC25A13	10165	HP:0001510	Growth delay
OMIM:314050	GATA1	2623	HP:0000421	Epistaxis
OMIM:314050	GATA1	2623	HP:0001744	Splenomegaly
OMIM:314050	GATA1	2623	HP:0001928	Abnormality of coagulation
OMIM:314050	GATA1	2623	HP:0001923	Reticulocytosis
OMIM:314050	GATA1	2623	HP:0001007	Hirsutism
OMIM:314050	GATA1	2623	HP:0001419	X-linked recessive inheritance
OMIM:314050	GATA1	2623	HP:0001873	Thrombocytopenia
OMIM:314050	GATA1	2623	HP:0003010	Prolonged bleeding time
OMIM:314050	GATA1	2623	HP:0000978	Bruising susceptibility
OMIM:314050	GATA1	2623	HP:0001878	Hemolytic anemia
OMIM:314050	GATA1	2623	HP:0000967	Petechiae
OMIM:314050	GATA1	2623	HP:0001903	Anemia
OMIM:300659	BRWD3	254065	HP:0000028	Cryptorchidism
OMIM:300659	BRWD3	254065	HP:0000378	Cupped ear
OMIM:300659	BRWD3	254065	HP:0001419	X-linked recessive inheritance
OMIM:300659	BRWD3	254065	HP:0000750	Delayed speech and language development
OMIM:300659	BRWD3	254065	HP:0011220	Prominent forehead
OMIM:300659	BRWD3	254065	HP:0000276	Long face
OMIM:300659	BRWD3	254065	HP:0001252	Muscular hypotonia
OMIM:300659	BRWD3	254065	HP:0001256	Intellectual disability, mild
OMIM:300659	BRWD3	254065	HP:0000400	Macrotia
OMIM:300659	BRWD3	254065	HP:0001763	Pes planus
OMIM:300659	BRWD3	254065	HP:0002007	Frontal bossing
OMIM:300659	BRWD3	254065	HP:0000256	Macrocephaly
OMIM:166700	LEMD3	23592	HP:0001679	Abnormality of the aorta
OMIM:166700	LEMD3	23592	HP:0002829	Arthralgia
OMIM:166700	LEMD3	23592	HP:0002652	Skeletal dysplasia
OMIM:166700	LEMD3	23592	HP:0001609	Hoarse voice
OMIM:166700	LEMD3	23592	HP:0002757	Recurrent fractures
OMIM:166700	LEMD3	23592	HP:0100774	Hyperostosis
OMIM:166700	LEMD3	23592	HP:0000987	Atypical scarring of skin
OMIM:166700	LEMD3	23592	HP:0100335	Non-midline cleft lip
OMIM:166700	LEMD3	23592	HP:0001371	Flexion contracture
OMIM:166700	LEMD3	23592	HP:0100721	Mediastinal lymphadenopathy
OMIM:166700	LEMD3	23592	HP:0000246	Sinusitis
OMIM:166700	LEMD3	23592	HP:0000982	Palmoplantar keratoderma
OMIM:166700	LEMD3	23592	HP:0007513	Generalized hypopigmentation
OMIM:166700	LEMD3	23592	HP:0000940	Abnormal diaphysis morphology
OMIM:166700	LEMD3	23592	HP:0000995	Melanocytic nevus
OMIM:166700	LEMD3	23592	HP:0000944	Abnormality of the metaphyses
OMIM:166700	LEMD3	23592	HP:0001369	Arthritis
OMIM:166700	LEMD3	23592	HP:0003764	Nevus
OMIM:166700	LEMD3	23592	HP:0001387	Joint stiffness
OMIM:166700	LEMD3	23592	HP:0005930	Abnormality of epiphysis morphology
OMIM:166700	LEMD3	23592	HP:0100242	Sarcoma
OMIM:166700	LEMD3	23592	HP:0000164	Abnormality of the teeth
OMIM:166700	LEMD3	23592	HP:0000006	Autosomal dominant inheritance
OMIM:166700	LEMD3	23592	HP:0001608	Abnormality of the voice
OMIM:166700	LEMD3	23592	HP:0000252	Microcephaly
OMIM:166700	LEMD3	23592	HP:0011001	Increased bone mineral density
OMIM:166700	LEMD3	23592	HP:0000505	Visual impairment
OMIM:166700	LEMD3	23592	HP:0100542	Abnormal localization of kidney
OMIM:166700	LEMD3	23592	HP:0002653	Bone pain
OMIM:166700	LEMD3	23592	HP:0003326	Myalgia
OMIM:166700	LEMD3	23592	HP:0000365	Hearing impairment
OMIM:166700	LEMD3	23592	HP:0004322	Short stature
OMIM:166700	LEMD3	23592	HP:0000486	Strabismus
OMIM:615919	PCNA	5111	HP:0000613	Photophobia
OMIM:615919	PCNA	5111	HP:0001272	Cerebellar atrophy
OMIM:615919	PCNA	5111	HP:0001371	Flexion contracture
OMIM:615919	PCNA	5111	HP:0002317	Unsteady gait
OMIM:615919	PCNA	5111	HP:0001761	Pes cavus
OMIM:615919	PCNA	5111	HP:0000252	Microcephaly
OMIM:615919	PCNA	5111	HP:0001263	Global developmental delay
OMIM:615919	PCNA	5111	HP:0000992	Cutaneous photosensitivity
OMIM:615919	PCNA	5111	HP:0001324	Muscle weakness
OMIM:615919	PCNA	5111	HP:0002015	Dysphagia
OMIM:615919	PCNA	5111	HP:0001260	Dysarthria
OMIM:615919	PCNA	5111	HP:0001251	Ataxia
OMIM:615919	PCNA	5111	HP:0002180	Neurodegeneration
OMIM:614157	FZD6	8323	HP:0000007	Autosomal recessive inheritance
OMIM:614157	FZD6	8323	HP:0001806	Onycholysis
OMIM:300200	NR0B1	190	HP:0000835	Adrenal hypoplasia
OMIM:300200	NR0B1	190	HP:0001419	X-linked recessive inheritance
OMIM:300200	NR0B1	190	HP:0003560	Muscular dystrophy
OMIM:300200	NR0B1	190	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:300200	NR0B1	190	HP:0000028	Cryptorchidism
OMIM:300200	NR0B1	190	HP:0001508	Failure to thrive
OMIM:300200	NR0B1	190	HP:0000953	Hyperpigmentation of the skin
OMIM:300200	NR0B1	190	HP:0001944	Dehydration
OMIM:616100	CTLA4	1493	HP:0000964	Eczema
OMIM:616100	CTLA4	1493	HP:0002240	Hepatomegaly
OMIM:616100	CTLA4	1493	HP:0002788	Recurrent upper respiratory tract infections
OMIM:616100	CTLA4	1493	HP:0004313	Decreased antibody level in blood
OMIM:616100	CTLA4	1493	HP:0002014	Diarrhea
OMIM:616100	CTLA4	1493	HP:0001744	Splenomegaly
OMIM:616100	CTLA4	1493	HP:0002716	Lymphadenopathy
OMIM:600209	EXT1	2131	HP:0000006	Autosomal dominant inheritance
OMIM:600209	EXT2	2132	HP:0000006	Autosomal dominant inheritance
OMIM:613693	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:613693	CALM1	801	HP:0001645	Sudden cardiac death
OMIM:613693	CALM1	801	HP:0001664	Torsade de pointes
OMIM:613693	CALM1	801	HP:0001663	Ventricular fibrillation
OMIM:613693	CALM1	801	HP:0001279	Syncope
OMIM:613693	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:613693	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:613693	CALM2	805	HP:0001645	Sudden cardiac death
OMIM:613693	CALM2	805	HP:0001664	Torsade de pointes
OMIM:613693	CALM2	805	HP:0001663	Ventricular fibrillation
OMIM:613693	CALM2	805	HP:0001279	Syncope
OMIM:613693	CALM2	805	HP:0001657	Prolonged QT interval
OMIM:613693	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:613693	KCNE2	9992	HP:0001645	Sudden cardiac death
OMIM:613693	KCNE2	9992	HP:0001664	Torsade de pointes
OMIM:613693	KCNE2	9992	HP:0001663	Ventricular fibrillation
OMIM:613693	KCNE2	9992	HP:0001279	Syncope
OMIM:613693	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:613693	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:613693	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:613693	KCNQ1	3784	HP:0001664	Torsade de pointes
OMIM:613693	KCNQ1	3784	HP:0001663	Ventricular fibrillation
OMIM:613693	KCNQ1	3784	HP:0001279	Syncope
OMIM:613693	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:613693	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:613693	KCNE1	3753	HP:0001645	Sudden cardiac death
OMIM:613693	KCNE1	3753	HP:0001664	Torsade de pointes
OMIM:613693	KCNE1	3753	HP:0001663	Ventricular fibrillation
OMIM:613693	KCNE1	3753	HP:0001279	Syncope
OMIM:613693	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:613693	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:613693	KCNH2	3757	HP:0001645	Sudden cardiac death
OMIM:613693	KCNH2	3757	HP:0001664	Torsade de pointes
OMIM:613693	KCNH2	3757	HP:0001663	Ventricular fibrillation
OMIM:613693	KCNH2	3757	HP:0001279	Syncope
OMIM:613693	KCNH2	3757	HP:0001657	Prolonged QT interval
OMIM:613693	SNTA1	6640	HP:0000006	Autosomal dominant inheritance
OMIM:613693	SNTA1	6640	HP:0001645	Sudden cardiac death
OMIM:613693	SNTA1	6640	HP:0001664	Torsade de pointes
OMIM:613693	SNTA1	6640	HP:0001663	Ventricular fibrillation
OMIM:613693	SNTA1	6640	HP:0001279	Syncope
OMIM:613693	SNTA1	6640	HP:0001657	Prolonged QT interval
OMIM:613693	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:613693	KCNJ5	3762	HP:0001645	Sudden cardiac death
OMIM:613693	KCNJ5	3762	HP:0001664	Torsade de pointes
OMIM:613693	KCNJ5	3762	HP:0001663	Ventricular fibrillation
OMIM:613693	KCNJ5	3762	HP:0001279	Syncope
OMIM:613693	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:613693	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:613693	SCN4B	6330	HP:0001645	Sudden cardiac death
OMIM:613693	SCN4B	6330	HP:0001664	Torsade de pointes
OMIM:613693	SCN4B	6330	HP:0001663	Ventricular fibrillation
OMIM:613693	SCN4B	6330	HP:0001279	Syncope
OMIM:613693	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:613693	NOS1AP	9722	HP:0000006	Autosomal dominant inheritance
OMIM:613693	NOS1AP	9722	HP:0001645	Sudden cardiac death
OMIM:613693	NOS1AP	9722	HP:0001664	Torsade de pointes
OMIM:613693	NOS1AP	9722	HP:0001663	Ventricular fibrillation
OMIM:613693	NOS1AP	9722	HP:0001279	Syncope
OMIM:613693	NOS1AP	9722	HP:0001657	Prolonged QT interval
OMIM:613693	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613693	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:613693	SCN5A	6331	HP:0001664	Torsade de pointes
OMIM:613693	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:613693	SCN5A	6331	HP:0001279	Syncope
OMIM:613693	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:613693	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:613693	CAV3	859	HP:0001645	Sudden cardiac death
OMIM:613693	CAV3	859	HP:0001664	Torsade de pointes
OMIM:613693	CAV3	859	HP:0001663	Ventricular fibrillation
OMIM:613693	CAV3	859	HP:0001279	Syncope
OMIM:613693	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:613693	AKAP9	10142	HP:0000006	Autosomal dominant inheritance
OMIM:613693	AKAP9	10142	HP:0001645	Sudden cardiac death
OMIM:613693	AKAP9	10142	HP:0001664	Torsade de pointes
OMIM:613693	AKAP9	10142	HP:0001663	Ventricular fibrillation
OMIM:613693	AKAP9	10142	HP:0001279	Syncope
OMIM:613693	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:613693	ANK2	287	HP:0000006	Autosomal dominant inheritance
OMIM:613693	ANK2	287	HP:0001645	Sudden cardiac death
OMIM:613693	ANK2	287	HP:0001664	Torsade de pointes
OMIM:613693	ANK2	287	HP:0001663	Ventricular fibrillation
OMIM:613693	ANK2	287	HP:0001279	Syncope
OMIM:613693	ANK2	287	HP:0001657	Prolonged QT interval
ORPHANET:50942	DSG1	1828	HP:0001597	Abnormality of the nail
ORPHANET:50942	DSG1	1828	HP:0000982	Palmoplantar keratoderma
ORPHANET:50942	DSP	1832	HP:0001597	Abnormality of the nail
ORPHANET:50942	DSP	1832	HP:0000982	Palmoplantar keratoderma
ORPHANET:50942	KRT1	3848	HP:0001597	Abnormality of the nail
ORPHANET:50942	KRT1	3848	HP:0000982	Palmoplantar keratoderma
ORPHANET:3152	SOST	50964	HP:0000098	Tall stature
ORPHANET:3152	SOST	50964	HP:0001231	Abnormality of the fingernails
ORPHANET:3152	SOST	50964	HP:0000366	Abnormality of the nose
ORPHANET:3152	SOST	50964	HP:0004493	Craniofacial hyperostosis
ORPHANET:3152	SOST	50964	HP:0006101	Finger syndactyly
ORPHANET:3152	SOST	50964	HP:0000277	Abnormality of the mandible
ORPHANET:3152	SOST	50964	HP:0010628	Facial palsy
ORPHANET:3152	SOST	50964	HP:0003103	Abnormal cortical bone morphology
ORPHANET:3152	SOST	50964	HP:0000508	Ptosis
ORPHANET:3152	SOST	50964	HP:0000407	Sensorineural hearing impairment
ORPHANET:3152	SOST	50964	HP:0000648	Optic atrophy
ORPHANET:3152	SOST	50964	HP:0011001	Increased bone mineral density
ORPHANET:3152	SOST	50964	HP:0001167	Abnormality of finger
ORPHANET:3152	LRP4	4038	HP:0000098	Tall stature
ORPHANET:3152	LRP4	4038	HP:0001231	Abnormality of the fingernails
ORPHANET:3152	LRP4	4038	HP:0000366	Abnormality of the nose
ORPHANET:3152	LRP4	4038	HP:0004493	Craniofacial hyperostosis
ORPHANET:3152	LRP4	4038	HP:0006101	Finger syndactyly
ORPHANET:3152	LRP4	4038	HP:0000277	Abnormality of the mandible
ORPHANET:3152	LRP4	4038	HP:0010628	Facial palsy
ORPHANET:3152	LRP4	4038	HP:0003103	Abnormal cortical bone morphology
ORPHANET:3152	LRP4	4038	HP:0000508	Ptosis
ORPHANET:3152	LRP4	4038	HP:0000407	Sensorineural hearing impairment
ORPHANET:3152	LRP4	4038	HP:0000648	Optic atrophy
ORPHANET:3152	LRP4	4038	HP:0011001	Increased bone mineral density
ORPHANET:3152	LRP4	4038	HP:0001167	Abnormality of finger
OMIM:125350	PTH1R	5745	HP:0000006	Autosomal dominant inheritance
OMIM:125350	PTH1R	5745	HP:0000668	Hypodontia
OMIM:125350	PTH1R	5745	HP:0006335	Persistence of primary teeth
OMIM:613517	VSX2	338917	HP:0000568	Microphthalmia
OMIM:613517	VSX2	338917	HP:0000482	Microcornea
OMIM:613517	VSX2	338917	HP:0000007	Autosomal recessive inheritance
OMIM:613517	SOX2	6657	HP:0000568	Microphthalmia
OMIM:613517	SOX2	6657	HP:0000482	Microcornea
OMIM:613517	SOX2	6657	HP:0000007	Autosomal recessive inheritance
OMIM:613517	GDF3	9573	HP:0000568	Microphthalmia
OMIM:613517	GDF3	9573	HP:0000482	Microcornea
OMIM:613517	GDF3	9573	HP:0000007	Autosomal recessive inheritance
OMIM:613517	OTX2	5015	HP:0000568	Microphthalmia
OMIM:613517	OTX2	5015	HP:0000482	Microcornea
OMIM:613517	OTX2	5015	HP:0000007	Autosomal recessive inheritance
OMIM:613517	PRSS56	646960	HP:0000568	Microphthalmia
OMIM:613517	PRSS56	646960	HP:0000482	Microcornea
OMIM:613517	PRSS56	646960	HP:0000007	Autosomal recessive inheritance
OMIM:613517	ALDH1A3	220	HP:0000568	Microphthalmia
OMIM:613517	ALDH1A3	220	HP:0000482	Microcornea
OMIM:613517	ALDH1A3	220	HP:0000007	Autosomal recessive inheritance
OMIM:613517	SIX6	4990	HP:0000568	Microphthalmia
OMIM:613517	SIX6	4990	HP:0000482	Microcornea
OMIM:613517	SIX6	4990	HP:0000007	Autosomal recessive inheritance
OMIM:613517	RAX	30062	HP:0000568	Microphthalmia
OMIM:613517	RAX	30062	HP:0000482	Microcornea
OMIM:613517	RAX	30062	HP:0000007	Autosomal recessive inheritance
OMIM:613825	C5	727	HP:0012308	Decreased serum complement C9
OMIM:613825	C6	729	HP:0012308	Decreased serum complement C9
OMIM:613825	C7	730	HP:0012308	Decreased serum complement C9
OMIM:613825	C8A	731	HP:0012308	Decreased serum complement C9
OMIM:613825	C8B	732	HP:0012308	Decreased serum complement C9
OMIM:613825	C8G	733	HP:0012308	Decreased serum complement C9
OMIM:613825	C9	735	HP:0012308	Decreased serum complement C9
OMIM:609195	B4GALNT1	2583	HP:0003487	Babinski sign
OMIM:609195	B4GALNT1	2583	HP:0001332	Dystonia
OMIM:609195	B4GALNT1	2583	HP:0003693	Distal amyotrophy
OMIM:609195	B4GALNT1	2583	HP:0040171	Decreased serum testosterone level
OMIM:609195	B4GALNT1	2583	HP:0001256	Intellectual disability, mild
OMIM:609195	B4GALNT1	2583	HP:0002359	Frequent falls
OMIM:609195	B4GALNT1	2583	HP:0003677	Slow progression
OMIM:609195	B4GALNT1	2583	HP:0000012	Urinary urgency
OMIM:609195	B4GALNT1	2583	HP:0001258	Spastic paraplegia
OMIM:609195	B4GALNT1	2583	HP:0000007	Autosomal recessive inheritance
OMIM:609195	B4GALNT1	2583	HP:0001260	Dysarthria
OMIM:609195	B4GALNT1	2583	HP:0100660	Dyskinesia
OMIM:609195	B4GALNT1	2583	HP:0001761	Pes cavus
OMIM:609195	B4GALNT1	2583	HP:0003676	Progressive
OMIM:609195	B4GALNT1	2583	HP:0001310	Dysmetria
OMIM:609195	B4GALNT1	2583	HP:0002355	Difficulty walking
OMIM:609195	B4GALNT1	2583	HP:0001347	Hyperreflexia
OMIM:609195	B4GALNT1	2583	HP:0000712	Emotional lability
OMIM:609195	B4GALNT1	2583	HP:0000518	Cataract
OMIM:609195	B4GALNT1	2583	HP:0002061	Lower limb spasticity
OMIM:609195	B4GALNT1	2583	HP:0002120	Cerebral cortical atrophy
OMIM:609195	B4GALNT1	2583	HP:0002064	Spastic gait
OMIM:609195	B4GALNT1	2583	HP:0000639	Nystagmus
OMIM:609195	B4GALNT1	2583	HP:0002650	Scoliosis
OMIM:305000	ACD	65057	HP:0000498	Blepharitis
OMIM:305000	ACD	65057	HP:0000648	Optic atrophy
OMIM:305000	ACD	65057	HP:0002216	Premature graying of hair
OMIM:305000	ACD	65057	HP:0004334	Dermal atrophy
OMIM:305000	ACD	65057	HP:0000028	Cryptorchidism
OMIM:305000	ACD	65057	HP:0008404	Nail dystrophy
OMIM:305000	ACD	65057	HP:0002091	Restrictive lung disease
OMIM:305000	ACD	65057	HP:0001741	Phimosis
OMIM:305000	ACD	65057	HP:0008661	Urethral stenosis
OMIM:305000	ACD	65057	HP:0001249	Intellectual disability
OMIM:305000	ACD	65057	HP:0000939	Osteoporosis
OMIM:305000	ACD	65057	HP:0001873	Thrombocytopenia
OMIM:305000	ACD	65057	HP:0002863	Myelodysplasia
OMIM:305000	ACD	65057	HP:0009926	Increased lacrimation
OMIM:305000	ACD	65057	HP:0001419	X-linked recessive inheritance
OMIM:305000	ACD	65057	HP:0001321	Cerebellar hypoplasia
OMIM:305000	ACD	65057	HP:0004322	Short stature
OMIM:305000	ACD	65057	HP:0000653	Sparse eyelashes
OMIM:305000	ACD	65057	HP:0000518	Cataract
OMIM:305000	ACD	65057	HP:0001876	Pancytopenia
OMIM:305000	ACD	65057	HP:0000975	Hyperhidrosis
OMIM:305000	ACD	65057	HP:0002860	Squamous cell carcinoma
OMIM:305000	ACD	65057	HP:0000047	Hypospadias
OMIM:305000	ACD	65057	HP:0001394	Cirrhosis
OMIM:305000	ACD	65057	HP:0001596	Alopecia
OMIM:305000	ACD	65057	HP:0001903	Anemia
OMIM:305000	ACD	65057	HP:0001882	Leukopenia
OMIM:305000	ACD	65057	HP:0000509	Conjunctivitis
OMIM:305000	ACD	65057	HP:0001251	Ataxia
OMIM:305000	ACD	65057	HP:0000252	Microcephaly
OMIM:305000	ACD	65057	HP:0000486	Strabismus
OMIM:305000	ACD	65057	HP:0001263	Global developmental delay
OMIM:305000	ACD	65057	HP:0002206	Pulmonary fibrosis
OMIM:305000	ACD	65057	HP:0002721	Immunodeficiency
OMIM:305000	ACD	65057	HP:0000670	Carious teeth
OMIM:305000	ACD	65057	HP:0008734	Decreased testicular size
OMIM:305000	ACD	65057	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	ACD	65057	HP:0000085	Horseshoe kidney
OMIM:305000	ACD	65057	HP:0005528	Bone marrow hypocellularity
OMIM:305000	PARN	5073	HP:0000498	Blepharitis
OMIM:305000	PARN	5073	HP:0000648	Optic atrophy
OMIM:305000	PARN	5073	HP:0002216	Premature graying of hair
OMIM:305000	PARN	5073	HP:0004334	Dermal atrophy
OMIM:305000	PARN	5073	HP:0000028	Cryptorchidism
OMIM:305000	PARN	5073	HP:0008404	Nail dystrophy
OMIM:305000	PARN	5073	HP:0002091	Restrictive lung disease
OMIM:305000	PARN	5073	HP:0001741	Phimosis
OMIM:305000	PARN	5073	HP:0008661	Urethral stenosis
OMIM:305000	PARN	5073	HP:0001249	Intellectual disability
OMIM:305000	PARN	5073	HP:0000939	Osteoporosis
OMIM:305000	PARN	5073	HP:0001873	Thrombocytopenia
OMIM:305000	PARN	5073	HP:0002863	Myelodysplasia
OMIM:305000	PARN	5073	HP:0009926	Increased lacrimation
OMIM:305000	PARN	5073	HP:0001419	X-linked recessive inheritance
OMIM:305000	PARN	5073	HP:0001321	Cerebellar hypoplasia
OMIM:305000	PARN	5073	HP:0004322	Short stature
OMIM:305000	PARN	5073	HP:0000653	Sparse eyelashes
OMIM:305000	PARN	5073	HP:0000518	Cataract
OMIM:305000	PARN	5073	HP:0001876	Pancytopenia
OMIM:305000	PARN	5073	HP:0000975	Hyperhidrosis
OMIM:305000	PARN	5073	HP:0002860	Squamous cell carcinoma
OMIM:305000	PARN	5073	HP:0000047	Hypospadias
OMIM:305000	PARN	5073	HP:0001394	Cirrhosis
OMIM:305000	PARN	5073	HP:0001596	Alopecia
OMIM:305000	PARN	5073	HP:0001903	Anemia
OMIM:305000	PARN	5073	HP:0001882	Leukopenia
OMIM:305000	PARN	5073	HP:0000509	Conjunctivitis
OMIM:305000	PARN	5073	HP:0001251	Ataxia
OMIM:305000	PARN	5073	HP:0000252	Microcephaly
OMIM:305000	PARN	5073	HP:0000486	Strabismus
OMIM:305000	PARN	5073	HP:0001263	Global developmental delay
OMIM:305000	PARN	5073	HP:0002206	Pulmonary fibrosis
OMIM:305000	PARN	5073	HP:0002721	Immunodeficiency
OMIM:305000	PARN	5073	HP:0000670	Carious teeth
OMIM:305000	PARN	5073	HP:0008734	Decreased testicular size
OMIM:305000	PARN	5073	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	PARN	5073	HP:0000085	Horseshoe kidney
OMIM:305000	PARN	5073	HP:0005528	Bone marrow hypocellularity
OMIM:305000	NOP10	55505	HP:0000498	Blepharitis
OMIM:305000	NOP10	55505	HP:0000648	Optic atrophy
OMIM:305000	NOP10	55505	HP:0002216	Premature graying of hair
OMIM:305000	NOP10	55505	HP:0004334	Dermal atrophy
OMIM:305000	NOP10	55505	HP:0000028	Cryptorchidism
OMIM:305000	NOP10	55505	HP:0008404	Nail dystrophy
OMIM:305000	NOP10	55505	HP:0002091	Restrictive lung disease
OMIM:305000	NOP10	55505	HP:0001741	Phimosis
OMIM:305000	NOP10	55505	HP:0008661	Urethral stenosis
OMIM:305000	NOP10	55505	HP:0001249	Intellectual disability
OMIM:305000	NOP10	55505	HP:0000939	Osteoporosis
OMIM:305000	NOP10	55505	HP:0001873	Thrombocytopenia
OMIM:305000	NOP10	55505	HP:0002863	Myelodysplasia
OMIM:305000	NOP10	55505	HP:0009926	Increased lacrimation
OMIM:305000	NOP10	55505	HP:0001419	X-linked recessive inheritance
OMIM:305000	NOP10	55505	HP:0001321	Cerebellar hypoplasia
OMIM:305000	NOP10	55505	HP:0004322	Short stature
OMIM:305000	NOP10	55505	HP:0000653	Sparse eyelashes
OMIM:305000	NOP10	55505	HP:0000518	Cataract
OMIM:305000	NOP10	55505	HP:0001876	Pancytopenia
OMIM:305000	NOP10	55505	HP:0000975	Hyperhidrosis
OMIM:305000	NOP10	55505	HP:0002860	Squamous cell carcinoma
OMIM:305000	NOP10	55505	HP:0000047	Hypospadias
OMIM:305000	NOP10	55505	HP:0001394	Cirrhosis
OMIM:305000	NOP10	55505	HP:0001596	Alopecia
OMIM:305000	NOP10	55505	HP:0001903	Anemia
OMIM:305000	NOP10	55505	HP:0001882	Leukopenia
OMIM:305000	NOP10	55505	HP:0000509	Conjunctivitis
OMIM:305000	NOP10	55505	HP:0001251	Ataxia
OMIM:305000	NOP10	55505	HP:0000252	Microcephaly
OMIM:305000	NOP10	55505	HP:0000486	Strabismus
OMIM:305000	NOP10	55505	HP:0001263	Global developmental delay
OMIM:305000	NOP10	55505	HP:0002206	Pulmonary fibrosis
OMIM:305000	NOP10	55505	HP:0002721	Immunodeficiency
OMIM:305000	NOP10	55505	HP:0000670	Carious teeth
OMIM:305000	NOP10	55505	HP:0008734	Decreased testicular size
OMIM:305000	NOP10	55505	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	NOP10	55505	HP:0000085	Horseshoe kidney
OMIM:305000	NOP10	55505	HP:0005528	Bone marrow hypocellularity
OMIM:305000	NHP2	55651	HP:0000498	Blepharitis
OMIM:305000	NHP2	55651	HP:0000648	Optic atrophy
OMIM:305000	NHP2	55651	HP:0002216	Premature graying of hair
OMIM:305000	NHP2	55651	HP:0004334	Dermal atrophy
OMIM:305000	NHP2	55651	HP:0000028	Cryptorchidism
OMIM:305000	NHP2	55651	HP:0008404	Nail dystrophy
OMIM:305000	NHP2	55651	HP:0002091	Restrictive lung disease
OMIM:305000	NHP2	55651	HP:0001741	Phimosis
OMIM:305000	NHP2	55651	HP:0008661	Urethral stenosis
OMIM:305000	NHP2	55651	HP:0001249	Intellectual disability
OMIM:305000	NHP2	55651	HP:0000939	Osteoporosis
OMIM:305000	NHP2	55651	HP:0001873	Thrombocytopenia
OMIM:305000	NHP2	55651	HP:0002863	Myelodysplasia
OMIM:305000	NHP2	55651	HP:0009926	Increased lacrimation
OMIM:305000	NHP2	55651	HP:0001419	X-linked recessive inheritance
OMIM:305000	NHP2	55651	HP:0001321	Cerebellar hypoplasia
OMIM:305000	NHP2	55651	HP:0004322	Short stature
OMIM:305000	NHP2	55651	HP:0000653	Sparse eyelashes
OMIM:305000	NHP2	55651	HP:0000518	Cataract
OMIM:305000	NHP2	55651	HP:0001876	Pancytopenia
OMIM:305000	NHP2	55651	HP:0000975	Hyperhidrosis
OMIM:305000	NHP2	55651	HP:0002860	Squamous cell carcinoma
OMIM:305000	NHP2	55651	HP:0000047	Hypospadias
OMIM:305000	NHP2	55651	HP:0001394	Cirrhosis
OMIM:305000	NHP2	55651	HP:0001596	Alopecia
OMIM:305000	NHP2	55651	HP:0001903	Anemia
OMIM:305000	NHP2	55651	HP:0001882	Leukopenia
OMIM:305000	NHP2	55651	HP:0000509	Conjunctivitis
OMIM:305000	NHP2	55651	HP:0001251	Ataxia
OMIM:305000	NHP2	55651	HP:0000252	Microcephaly
OMIM:305000	NHP2	55651	HP:0000486	Strabismus
OMIM:305000	NHP2	55651	HP:0001263	Global developmental delay
OMIM:305000	NHP2	55651	HP:0002206	Pulmonary fibrosis
OMIM:305000	NHP2	55651	HP:0002721	Immunodeficiency
OMIM:305000	NHP2	55651	HP:0000670	Carious teeth
OMIM:305000	NHP2	55651	HP:0008734	Decreased testicular size
OMIM:305000	NHP2	55651	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	NHP2	55651	HP:0000085	Horseshoe kidney
OMIM:305000	NHP2	55651	HP:0005528	Bone marrow hypocellularity
OMIM:305000	USB1	79650	HP:0000498	Blepharitis
OMIM:305000	USB1	79650	HP:0000648	Optic atrophy
OMIM:305000	USB1	79650	HP:0002216	Premature graying of hair
OMIM:305000	USB1	79650	HP:0004334	Dermal atrophy
OMIM:305000	USB1	79650	HP:0000028	Cryptorchidism
OMIM:305000	USB1	79650	HP:0008404	Nail dystrophy
OMIM:305000	USB1	79650	HP:0002091	Restrictive lung disease
OMIM:305000	USB1	79650	HP:0001741	Phimosis
OMIM:305000	USB1	79650	HP:0008661	Urethral stenosis
OMIM:305000	USB1	79650	HP:0001249	Intellectual disability
OMIM:305000	USB1	79650	HP:0000939	Osteoporosis
OMIM:305000	USB1	79650	HP:0001873	Thrombocytopenia
OMIM:305000	USB1	79650	HP:0002863	Myelodysplasia
OMIM:305000	USB1	79650	HP:0009926	Increased lacrimation
OMIM:305000	USB1	79650	HP:0001419	X-linked recessive inheritance
OMIM:305000	USB1	79650	HP:0001321	Cerebellar hypoplasia
OMIM:305000	USB1	79650	HP:0004322	Short stature
OMIM:305000	USB1	79650	HP:0000653	Sparse eyelashes
OMIM:305000	USB1	79650	HP:0000518	Cataract
OMIM:305000	USB1	79650	HP:0001876	Pancytopenia
OMIM:305000	USB1	79650	HP:0000975	Hyperhidrosis
OMIM:305000	USB1	79650	HP:0002860	Squamous cell carcinoma
OMIM:305000	USB1	79650	HP:0000047	Hypospadias
OMIM:305000	USB1	79650	HP:0001394	Cirrhosis
OMIM:305000	USB1	79650	HP:0001596	Alopecia
OMIM:305000	USB1	79650	HP:0001903	Anemia
OMIM:305000	USB1	79650	HP:0001882	Leukopenia
OMIM:305000	USB1	79650	HP:0000509	Conjunctivitis
OMIM:305000	USB1	79650	HP:0001251	Ataxia
OMIM:305000	USB1	79650	HP:0000252	Microcephaly
OMIM:305000	USB1	79650	HP:0000486	Strabismus
OMIM:305000	USB1	79650	HP:0001263	Global developmental delay
OMIM:305000	USB1	79650	HP:0002206	Pulmonary fibrosis
OMIM:305000	USB1	79650	HP:0002721	Immunodeficiency
OMIM:305000	USB1	79650	HP:0000670	Carious teeth
OMIM:305000	USB1	79650	HP:0008734	Decreased testicular size
OMIM:305000	USB1	79650	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	USB1	79650	HP:0000085	Horseshoe kidney
OMIM:305000	USB1	79650	HP:0005528	Bone marrow hypocellularity
OMIM:305000	TERC	7012	HP:0000498	Blepharitis
OMIM:305000	TERC	7012	HP:0000648	Optic atrophy
OMIM:305000	TERC	7012	HP:0002216	Premature graying of hair
OMIM:305000	TERC	7012	HP:0004334	Dermal atrophy
OMIM:305000	TERC	7012	HP:0000028	Cryptorchidism
OMIM:305000	TERC	7012	HP:0008404	Nail dystrophy
OMIM:305000	TERC	7012	HP:0002091	Restrictive lung disease
OMIM:305000	TERC	7012	HP:0001741	Phimosis
OMIM:305000	TERC	7012	HP:0008661	Urethral stenosis
OMIM:305000	TERC	7012	HP:0001249	Intellectual disability
OMIM:305000	TERC	7012	HP:0000939	Osteoporosis
OMIM:305000	TERC	7012	HP:0001873	Thrombocytopenia
OMIM:305000	TERC	7012	HP:0002863	Myelodysplasia
OMIM:305000	TERC	7012	HP:0009926	Increased lacrimation
OMIM:305000	TERC	7012	HP:0001419	X-linked recessive inheritance
OMIM:305000	TERC	7012	HP:0001321	Cerebellar hypoplasia
OMIM:305000	TERC	7012	HP:0004322	Short stature
OMIM:305000	TERC	7012	HP:0000653	Sparse eyelashes
OMIM:305000	TERC	7012	HP:0000518	Cataract
OMIM:305000	TERC	7012	HP:0001876	Pancytopenia
OMIM:305000	TERC	7012	HP:0000975	Hyperhidrosis
OMIM:305000	TERC	7012	HP:0002860	Squamous cell carcinoma
OMIM:305000	TERC	7012	HP:0000047	Hypospadias
OMIM:305000	TERC	7012	HP:0001394	Cirrhosis
OMIM:305000	TERC	7012	HP:0001596	Alopecia
OMIM:305000	TERC	7012	HP:0001903	Anemia
OMIM:305000	TERC	7012	HP:0001882	Leukopenia
OMIM:305000	TERC	7012	HP:0000509	Conjunctivitis
OMIM:305000	TERC	7012	HP:0001251	Ataxia
OMIM:305000	TERC	7012	HP:0000252	Microcephaly
OMIM:305000	TERC	7012	HP:0000486	Strabismus
OMIM:305000	TERC	7012	HP:0001263	Global developmental delay
OMIM:305000	TERC	7012	HP:0002206	Pulmonary fibrosis
OMIM:305000	TERC	7012	HP:0002721	Immunodeficiency
OMIM:305000	TERC	7012	HP:0000670	Carious teeth
OMIM:305000	TERC	7012	HP:0008734	Decreased testicular size
OMIM:305000	TERC	7012	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	TERC	7012	HP:0000085	Horseshoe kidney
OMIM:305000	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:305000	TINF2	26277	HP:0000498	Blepharitis
OMIM:305000	TINF2	26277	HP:0000648	Optic atrophy
OMIM:305000	TINF2	26277	HP:0002216	Premature graying of hair
OMIM:305000	TINF2	26277	HP:0004334	Dermal atrophy
OMIM:305000	TINF2	26277	HP:0000028	Cryptorchidism
OMIM:305000	TINF2	26277	HP:0008404	Nail dystrophy
OMIM:305000	TINF2	26277	HP:0002091	Restrictive lung disease
OMIM:305000	TINF2	26277	HP:0001741	Phimosis
OMIM:305000	TINF2	26277	HP:0008661	Urethral stenosis
OMIM:305000	TINF2	26277	HP:0001249	Intellectual disability
OMIM:305000	TINF2	26277	HP:0000939	Osteoporosis
OMIM:305000	TINF2	26277	HP:0001873	Thrombocytopenia
OMIM:305000	TINF2	26277	HP:0002863	Myelodysplasia
OMIM:305000	TINF2	26277	HP:0009926	Increased lacrimation
OMIM:305000	TINF2	26277	HP:0001419	X-linked recessive inheritance
OMIM:305000	TINF2	26277	HP:0001321	Cerebellar hypoplasia
OMIM:305000	TINF2	26277	HP:0004322	Short stature
OMIM:305000	TINF2	26277	HP:0000653	Sparse eyelashes
OMIM:305000	TINF2	26277	HP:0000518	Cataract
OMIM:305000	TINF2	26277	HP:0001876	Pancytopenia
OMIM:305000	TINF2	26277	HP:0000975	Hyperhidrosis
OMIM:305000	TINF2	26277	HP:0002860	Squamous cell carcinoma
OMIM:305000	TINF2	26277	HP:0000047	Hypospadias
OMIM:305000	TINF2	26277	HP:0001394	Cirrhosis
OMIM:305000	TINF2	26277	HP:0001596	Alopecia
OMIM:305000	TINF2	26277	HP:0001903	Anemia
OMIM:305000	TINF2	26277	HP:0001882	Leukopenia
OMIM:305000	TINF2	26277	HP:0000509	Conjunctivitis
OMIM:305000	TINF2	26277	HP:0001251	Ataxia
OMIM:305000	TINF2	26277	HP:0000252	Microcephaly
OMIM:305000	TINF2	26277	HP:0000486	Strabismus
OMIM:305000	TINF2	26277	HP:0001263	Global developmental delay
OMIM:305000	TINF2	26277	HP:0002206	Pulmonary fibrosis
OMIM:305000	TINF2	26277	HP:0002721	Immunodeficiency
OMIM:305000	TINF2	26277	HP:0000670	Carious teeth
OMIM:305000	TINF2	26277	HP:0008734	Decreased testicular size
OMIM:305000	TINF2	26277	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	TINF2	26277	HP:0000085	Horseshoe kidney
OMIM:305000	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:305000	RTEL1	51750	HP:0000498	Blepharitis
OMIM:305000	RTEL1	51750	HP:0000648	Optic atrophy
OMIM:305000	RTEL1	51750	HP:0002216	Premature graying of hair
OMIM:305000	RTEL1	51750	HP:0004334	Dermal atrophy
OMIM:305000	RTEL1	51750	HP:0000028	Cryptorchidism
OMIM:305000	RTEL1	51750	HP:0008404	Nail dystrophy
OMIM:305000	RTEL1	51750	HP:0002091	Restrictive lung disease
OMIM:305000	RTEL1	51750	HP:0001741	Phimosis
OMIM:305000	RTEL1	51750	HP:0008661	Urethral stenosis
OMIM:305000	RTEL1	51750	HP:0001249	Intellectual disability
OMIM:305000	RTEL1	51750	HP:0000939	Osteoporosis
OMIM:305000	RTEL1	51750	HP:0001873	Thrombocytopenia
OMIM:305000	RTEL1	51750	HP:0002863	Myelodysplasia
OMIM:305000	RTEL1	51750	HP:0009926	Increased lacrimation
OMIM:305000	RTEL1	51750	HP:0001419	X-linked recessive inheritance
OMIM:305000	RTEL1	51750	HP:0001321	Cerebellar hypoplasia
OMIM:305000	RTEL1	51750	HP:0004322	Short stature
OMIM:305000	RTEL1	51750	HP:0000653	Sparse eyelashes
OMIM:305000	RTEL1	51750	HP:0000518	Cataract
OMIM:305000	RTEL1	51750	HP:0001876	Pancytopenia
OMIM:305000	RTEL1	51750	HP:0000975	Hyperhidrosis
OMIM:305000	RTEL1	51750	HP:0002860	Squamous cell carcinoma
OMIM:305000	RTEL1	51750	HP:0000047	Hypospadias
OMIM:305000	RTEL1	51750	HP:0001394	Cirrhosis
OMIM:305000	RTEL1	51750	HP:0001596	Alopecia
OMIM:305000	RTEL1	51750	HP:0001903	Anemia
OMIM:305000	RTEL1	51750	HP:0001882	Leukopenia
OMIM:305000	RTEL1	51750	HP:0000509	Conjunctivitis
OMIM:305000	RTEL1	51750	HP:0001251	Ataxia
OMIM:305000	RTEL1	51750	HP:0000252	Microcephaly
OMIM:305000	RTEL1	51750	HP:0000486	Strabismus
OMIM:305000	RTEL1	51750	HP:0001263	Global developmental delay
OMIM:305000	RTEL1	51750	HP:0002206	Pulmonary fibrosis
OMIM:305000	RTEL1	51750	HP:0002721	Immunodeficiency
OMIM:305000	RTEL1	51750	HP:0000670	Carious teeth
OMIM:305000	RTEL1	51750	HP:0008734	Decreased testicular size
OMIM:305000	RTEL1	51750	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	RTEL1	51750	HP:0000085	Horseshoe kidney
OMIM:305000	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
OMIM:305000	TERT	7015	HP:0000498	Blepharitis
OMIM:305000	TERT	7015	HP:0000648	Optic atrophy
OMIM:305000	TERT	7015	HP:0002216	Premature graying of hair
OMIM:305000	TERT	7015	HP:0004334	Dermal atrophy
OMIM:305000	TERT	7015	HP:0000028	Cryptorchidism
OMIM:305000	TERT	7015	HP:0008404	Nail dystrophy
OMIM:305000	TERT	7015	HP:0002091	Restrictive lung disease
OMIM:305000	TERT	7015	HP:0001741	Phimosis
OMIM:305000	TERT	7015	HP:0008661	Urethral stenosis
OMIM:305000	TERT	7015	HP:0001249	Intellectual disability
OMIM:305000	TERT	7015	HP:0000939	Osteoporosis
OMIM:305000	TERT	7015	HP:0001873	Thrombocytopenia
OMIM:305000	TERT	7015	HP:0002863	Myelodysplasia
OMIM:305000	TERT	7015	HP:0009926	Increased lacrimation
OMIM:305000	TERT	7015	HP:0001419	X-linked recessive inheritance
OMIM:305000	TERT	7015	HP:0001321	Cerebellar hypoplasia
OMIM:305000	TERT	7015	HP:0004322	Short stature
OMIM:305000	TERT	7015	HP:0000653	Sparse eyelashes
OMIM:305000	TERT	7015	HP:0000518	Cataract
OMIM:305000	TERT	7015	HP:0001876	Pancytopenia
OMIM:305000	TERT	7015	HP:0000975	Hyperhidrosis
OMIM:305000	TERT	7015	HP:0002860	Squamous cell carcinoma
OMIM:305000	TERT	7015	HP:0000047	Hypospadias
OMIM:305000	TERT	7015	HP:0001394	Cirrhosis
OMIM:305000	TERT	7015	HP:0001596	Alopecia
OMIM:305000	TERT	7015	HP:0001903	Anemia
OMIM:305000	TERT	7015	HP:0001882	Leukopenia
OMIM:305000	TERT	7015	HP:0000509	Conjunctivitis
OMIM:305000	TERT	7015	HP:0001251	Ataxia
OMIM:305000	TERT	7015	HP:0000252	Microcephaly
OMIM:305000	TERT	7015	HP:0000486	Strabismus
OMIM:305000	TERT	7015	HP:0001263	Global developmental delay
OMIM:305000	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:305000	TERT	7015	HP:0002721	Immunodeficiency
OMIM:305000	TERT	7015	HP:0000670	Carious teeth
OMIM:305000	TERT	7015	HP:0008734	Decreased testicular size
OMIM:305000	TERT	7015	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	TERT	7015	HP:0000085	Horseshoe kidney
OMIM:305000	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:305000	DKC1	1736	HP:0000498	Blepharitis
OMIM:305000	DKC1	1736	HP:0000648	Optic atrophy
OMIM:305000	DKC1	1736	HP:0002216	Premature graying of hair
OMIM:305000	DKC1	1736	HP:0004334	Dermal atrophy
OMIM:305000	DKC1	1736	HP:0000028	Cryptorchidism
OMIM:305000	DKC1	1736	HP:0008404	Nail dystrophy
OMIM:305000	DKC1	1736	HP:0002091	Restrictive lung disease
OMIM:305000	DKC1	1736	HP:0001741	Phimosis
OMIM:305000	DKC1	1736	HP:0008661	Urethral stenosis
OMIM:305000	DKC1	1736	HP:0001249	Intellectual disability
OMIM:305000	DKC1	1736	HP:0000939	Osteoporosis
OMIM:305000	DKC1	1736	HP:0001873	Thrombocytopenia
OMIM:305000	DKC1	1736	HP:0002863	Myelodysplasia
OMIM:305000	DKC1	1736	HP:0009926	Increased lacrimation
OMIM:305000	DKC1	1736	HP:0001419	X-linked recessive inheritance
OMIM:305000	DKC1	1736	HP:0001321	Cerebellar hypoplasia
OMIM:305000	DKC1	1736	HP:0004322	Short stature
OMIM:305000	DKC1	1736	HP:0000653	Sparse eyelashes
OMIM:305000	DKC1	1736	HP:0000518	Cataract
OMIM:305000	DKC1	1736	HP:0001876	Pancytopenia
OMIM:305000	DKC1	1736	HP:0000975	Hyperhidrosis
OMIM:305000	DKC1	1736	HP:0002860	Squamous cell carcinoma
OMIM:305000	DKC1	1736	HP:0000047	Hypospadias
OMIM:305000	DKC1	1736	HP:0001394	Cirrhosis
OMIM:305000	DKC1	1736	HP:0001596	Alopecia
OMIM:305000	DKC1	1736	HP:0001903	Anemia
OMIM:305000	DKC1	1736	HP:0001882	Leukopenia
OMIM:305000	DKC1	1736	HP:0000509	Conjunctivitis
OMIM:305000	DKC1	1736	HP:0001251	Ataxia
OMIM:305000	DKC1	1736	HP:0000252	Microcephaly
OMIM:305000	DKC1	1736	HP:0000486	Strabismus
OMIM:305000	DKC1	1736	HP:0001263	Global developmental delay
OMIM:305000	DKC1	1736	HP:0002206	Pulmonary fibrosis
OMIM:305000	DKC1	1736	HP:0002721	Immunodeficiency
OMIM:305000	DKC1	1736	HP:0000670	Carious teeth
OMIM:305000	DKC1	1736	HP:0008734	Decreased testicular size
OMIM:305000	DKC1	1736	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	DKC1	1736	HP:0000085	Horseshoe kidney
OMIM:305000	DKC1	1736	HP:0005528	Bone marrow hypocellularity
OMIM:305000	CTC1	80169	HP:0000498	Blepharitis
OMIM:305000	CTC1	80169	HP:0000648	Optic atrophy
OMIM:305000	CTC1	80169	HP:0002216	Premature graying of hair
OMIM:305000	CTC1	80169	HP:0004334	Dermal atrophy
OMIM:305000	CTC1	80169	HP:0000028	Cryptorchidism
OMIM:305000	CTC1	80169	HP:0008404	Nail dystrophy
OMIM:305000	CTC1	80169	HP:0002091	Restrictive lung disease
OMIM:305000	CTC1	80169	HP:0001741	Phimosis
OMIM:305000	CTC1	80169	HP:0008661	Urethral stenosis
OMIM:305000	CTC1	80169	HP:0001249	Intellectual disability
OMIM:305000	CTC1	80169	HP:0000939	Osteoporosis
OMIM:305000	CTC1	80169	HP:0001873	Thrombocytopenia
OMIM:305000	CTC1	80169	HP:0002863	Myelodysplasia
OMIM:305000	CTC1	80169	HP:0009926	Increased lacrimation
OMIM:305000	CTC1	80169	HP:0001419	X-linked recessive inheritance
OMIM:305000	CTC1	80169	HP:0001321	Cerebellar hypoplasia
OMIM:305000	CTC1	80169	HP:0004322	Short stature
OMIM:305000	CTC1	80169	HP:0000653	Sparse eyelashes
OMIM:305000	CTC1	80169	HP:0000518	Cataract
OMIM:305000	CTC1	80169	HP:0001876	Pancytopenia
OMIM:305000	CTC1	80169	HP:0000975	Hyperhidrosis
OMIM:305000	CTC1	80169	HP:0002860	Squamous cell carcinoma
OMIM:305000	CTC1	80169	HP:0000047	Hypospadias
OMIM:305000	CTC1	80169	HP:0001394	Cirrhosis
OMIM:305000	CTC1	80169	HP:0001596	Alopecia
OMIM:305000	CTC1	80169	HP:0001903	Anemia
OMIM:305000	CTC1	80169	HP:0001882	Leukopenia
OMIM:305000	CTC1	80169	HP:0000509	Conjunctivitis
OMIM:305000	CTC1	80169	HP:0001251	Ataxia
OMIM:305000	CTC1	80169	HP:0000252	Microcephaly
OMIM:305000	CTC1	80169	HP:0000486	Strabismus
OMIM:305000	CTC1	80169	HP:0001263	Global developmental delay
OMIM:305000	CTC1	80169	HP:0002206	Pulmonary fibrosis
OMIM:305000	CTC1	80169	HP:0002721	Immunodeficiency
OMIM:305000	CTC1	80169	HP:0000670	Carious teeth
OMIM:305000	CTC1	80169	HP:0008734	Decreased testicular size
OMIM:305000	CTC1	80169	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	CTC1	80169	HP:0000085	Horseshoe kidney
OMIM:305000	CTC1	80169	HP:0005528	Bone marrow hypocellularity
OMIM:305000	WRAP53	55135	HP:0000498	Blepharitis
OMIM:305000	WRAP53	55135	HP:0000648	Optic atrophy
OMIM:305000	WRAP53	55135	HP:0002216	Premature graying of hair
OMIM:305000	WRAP53	55135	HP:0004334	Dermal atrophy
OMIM:305000	WRAP53	55135	HP:0000028	Cryptorchidism
OMIM:305000	WRAP53	55135	HP:0008404	Nail dystrophy
OMIM:305000	WRAP53	55135	HP:0002091	Restrictive lung disease
OMIM:305000	WRAP53	55135	HP:0001741	Phimosis
OMIM:305000	WRAP53	55135	HP:0008661	Urethral stenosis
OMIM:305000	WRAP53	55135	HP:0001249	Intellectual disability
OMIM:305000	WRAP53	55135	HP:0000939	Osteoporosis
OMIM:305000	WRAP53	55135	HP:0001873	Thrombocytopenia
OMIM:305000	WRAP53	55135	HP:0002863	Myelodysplasia
OMIM:305000	WRAP53	55135	HP:0009926	Increased lacrimation
OMIM:305000	WRAP53	55135	HP:0001419	X-linked recessive inheritance
OMIM:305000	WRAP53	55135	HP:0001321	Cerebellar hypoplasia
OMIM:305000	WRAP53	55135	HP:0004322	Short stature
OMIM:305000	WRAP53	55135	HP:0000653	Sparse eyelashes
OMIM:305000	WRAP53	55135	HP:0000518	Cataract
OMIM:305000	WRAP53	55135	HP:0001876	Pancytopenia
OMIM:305000	WRAP53	55135	HP:0000975	Hyperhidrosis
OMIM:305000	WRAP53	55135	HP:0002860	Squamous cell carcinoma
OMIM:305000	WRAP53	55135	HP:0000047	Hypospadias
OMIM:305000	WRAP53	55135	HP:0001394	Cirrhosis
OMIM:305000	WRAP53	55135	HP:0001596	Alopecia
OMIM:305000	WRAP53	55135	HP:0001903	Anemia
OMIM:305000	WRAP53	55135	HP:0001882	Leukopenia
OMIM:305000	WRAP53	55135	HP:0000509	Conjunctivitis
OMIM:305000	WRAP53	55135	HP:0001251	Ataxia
OMIM:305000	WRAP53	55135	HP:0000252	Microcephaly
OMIM:305000	WRAP53	55135	HP:0000486	Strabismus
OMIM:305000	WRAP53	55135	HP:0001263	Global developmental delay
OMIM:305000	WRAP53	55135	HP:0002206	Pulmonary fibrosis
OMIM:305000	WRAP53	55135	HP:0002721	Immunodeficiency
OMIM:305000	WRAP53	55135	HP:0000670	Carious teeth
OMIM:305000	WRAP53	55135	HP:0008734	Decreased testicular size
OMIM:305000	WRAP53	55135	HP:0000953	Hyperpigmentation of the skin
OMIM:305000	WRAP53	55135	HP:0000085	Horseshoe kidney
OMIM:305000	WRAP53	55135	HP:0005528	Bone marrow hypocellularity
OMIM:277900	ATP7B	540	HP:0001332	Dystonia
OMIM:277900	ATP7B	540	HP:0000934	Chondrocalcinosis
OMIM:277900	ATP7B	540	HP:0001337	Tremor
OMIM:277900	ATP7B	540	HP:0000787	Nephrolithiasis
OMIM:277900	ATP7B	540	HP:0001260	Dysarthria
OMIM:277900	ATP7B	540	HP:0002240	Hepatomegaly
OMIM:277900	ATP7B	540	HP:0002015	Dysphagia
OMIM:277900	ATP7B	540	HP:0000726	Dementia
OMIM:277900	ATP7B	540	HP:0001394	Cirrhosis
OMIM:277900	ATP7B	540	HP:0001399	Hepatic failure
OMIM:277900	ATP7B	540	HP:0003355	Aminoaciduria
OMIM:277900	ATP7B	540	HP:0001382	Joint hypermobility
OMIM:277900	ATP7B	540	HP:0002150	Hypercalciuria
OMIM:277900	ATP7B	540	HP:0002307	Drooling
OMIM:277900	ATP7B	540	HP:0000093	Proteinuria
OMIM:277900	ATP7B	540	HP:0001878	Hemolytic anemia
OMIM:277900	ATP7B	540	HP:0000007	Autosomal recessive inheritance
OMIM:277900	ATP7B	540	HP:0001259	Coma
OMIM:277900	ATP7B	540	HP:0000829	Hypoparathyroidism
OMIM:277900	ATP7B	540	HP:0001271	Polyneuropathy
OMIM:277900	ATP7B	540	HP:0002758	Osteoarthritis
OMIM:277900	ATP7B	540	HP:0000939	Osteoporosis
OMIM:222700	SLC7A7	9056	HP:0000973	Cutis laxa
OMIM:222700	SLC7A7	9056	HP:0000974	Hyperextensible skin
OMIM:222700	SLC7A7	9056	HP:0001508	Failure to thrive
OMIM:222700	SLC7A7	9056	HP:0002093	Respiratory insufficiency
OMIM:222700	SLC7A7	9056	HP:0003355	Aminoaciduria
OMIM:222700	SLC7A7	9056	HP:0001733	Pancreatitis
OMIM:222700	SLC7A7	9056	HP:0003218	Oroticaciduria
OMIM:222700	SLC7A7	9056	HP:0001903	Anemia
OMIM:222700	SLC7A7	9056	HP:0001987	Hyperammonemia
OMIM:222700	SLC7A7	9056	HP:0000007	Autosomal recessive inheritance
OMIM:222700	SLC7A7	9056	HP:0003812	Phenotypic variability
OMIM:222700	SLC7A7	9056	HP:0001744	Splenomegaly
OMIM:222700	SLC7A7	9056	HP:0002014	Diarrhea
OMIM:222700	SLC7A7	9056	HP:0002018	Nausea
OMIM:222700	SLC7A7	9056	HP:0003593	Infantile onset
OMIM:222700	SLC7A7	9056	HP:0001324	Muscle weakness
OMIM:222700	SLC7A7	9056	HP:0001252	Muscular hypotonia
OMIM:222700	SLC7A7	9056	HP:0004395	Malnutrition
OMIM:222700	SLC7A7	9056	HP:0002750	Delayed skeletal maturation
OMIM:222700	SLC7A7	9056	HP:0008070	Sparse hair
OMIM:222700	SLC7A7	9056	HP:0002240	Hepatomegaly
OMIM:222700	SLC7A7	9056	HP:0001956	Truncal obesity
OMIM:222700	SLC7A7	9056	HP:0001882	Leukopenia
OMIM:222700	SLC7A7	9056	HP:0002013	Vomiting
OMIM:222700	SLC7A7	9056	HP:0003202	Skeletal muscle atrophy
OMIM:222700	SLC7A7	9056	HP:0000939	Osteoporosis
OMIM:222700	SLC7A7	9056	HP:0003774	Stage 5 chronic kidney disease
OMIM:222700	SLC7A7	9056	HP:0001873	Thrombocytopenia
OMIM:222700	SLC7A7	9056	HP:0002213	Fine hair
OMIM:222700	SLC7A7	9056	HP:0004322	Short stature
OMIM:248000	TBC1D7	51256	HP:0000545	Myopia
OMIM:248000	TBC1D7	51256	HP:0000750	Delayed speech and language development
OMIM:248000	TBC1D7	51256	HP:0000268	Dolichocephaly
OMIM:248000	TBC1D7	51256	HP:0000709	Psychosis
OMIM:248000	TBC1D7	51256	HP:0000256	Macrocephaly
OMIM:248000	TBC1D7	51256	HP:0000337	Broad forehead
OMIM:248000	TBC1D7	51256	HP:0000280	Coarse facial features
OMIM:248000	TBC1D7	51256	HP:0000303	Mandibular prognathia
OMIM:248000	TBC1D7	51256	HP:0001249	Intellectual disability
OMIM:248000	TBC1D7	51256	HP:0000648	Optic atrophy
OMIM:248000	TBC1D7	51256	HP:0000483	Astigmatism
OMIM:248000	TBC1D7	51256	HP:0000307	Pointed chin
OMIM:248000	TBC1D7	51256	HP:0003011	Abnormality of the musculature
OMIM:248000	TBC1D7	51256	HP:0001263	Global developmental delay
OMIM:614335	TNNI2	7136	HP:0001762	Talipes equinovarus
OMIM:614335	TNNI2	7136	HP:0002804	Arthrogryposis multiplex congenita
OMIM:614335	TNNI2	7136	HP:0001838	Rocker bottom foot
OMIM:614335	TNNI2	7136	HP:0009473	Joint contracture of the hand
OMIM:614335	TNNI2	7136	HP:0008366	Contractures involving the joints of the feet
OMIM:614335	TPM2	7169	HP:0001762	Talipes equinovarus
OMIM:614335	TPM2	7169	HP:0002804	Arthrogryposis multiplex congenita
OMIM:614335	TPM2	7169	HP:0001838	Rocker bottom foot
OMIM:614335	TPM2	7169	HP:0009473	Joint contracture of the hand
OMIM:614335	TPM2	7169	HP:0008366	Contractures involving the joints of the feet
OMIM:614335	TNNT3	7140	HP:0001762	Talipes equinovarus
OMIM:614335	TNNT3	7140	HP:0002804	Arthrogryposis multiplex congenita
OMIM:614335	TNNT3	7140	HP:0001838	Rocker bottom foot
OMIM:614335	TNNT3	7140	HP:0009473	Joint contracture of the hand
OMIM:614335	TNNT3	7140	HP:0008366	Contractures involving the joints of the feet
OMIM:614335	MYBPC1	4604	HP:0001762	Talipes equinovarus
OMIM:614335	MYBPC1	4604	HP:0002804	Arthrogryposis multiplex congenita
OMIM:614335	MYBPC1	4604	HP:0001838	Rocker bottom foot
OMIM:614335	MYBPC1	4604	HP:0009473	Joint contracture of the hand
OMIM:614335	MYBPC1	4604	HP:0008366	Contractures involving the joints of the feet
OMIM:614335	MYH3	4621	HP:0001762	Talipes equinovarus
OMIM:614335	MYH3	4621	HP:0002804	Arthrogryposis multiplex congenita
OMIM:614335	MYH3	4621	HP:0001838	Rocker bottom foot
OMIM:614335	MYH3	4621	HP:0009473	Joint contracture of the hand
OMIM:614335	MYH3	4621	HP:0008366	Contractures involving the joints of the feet
OMIM:300047	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300047	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300047	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300047	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300047	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300047	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300047	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300047	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300047	SYP	6855	HP:0001249	Intellectual disability
OMIM:300047	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300047	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300047	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300047	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300047	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300047	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300047	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300047	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300047	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300047	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300047	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300047	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300047	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300047	DMD	1756	HP:0001249	Intellectual disability
OMIM:300047	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300047	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300047	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300047	MID2	11043	HP:0001249	Intellectual disability
OMIM:300047	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300047	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300047	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300047	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300047	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300047	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300047	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300047	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300047	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300047	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300047	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300047	MED12	9968	HP:0001249	Intellectual disability
OMIM:300047	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300047	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300047	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300047	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300047	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300047	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300047	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300047	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300047	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300047	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300047	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300047	ARX	170302	HP:0001249	Intellectual disability
OMIM:300047	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300047	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300047	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300047	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300047	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:614892	STAT1	6772	HP:0000006	Autosomal dominant inheritance
OMIM:614892	STAT1	6772	HP:0002721	Immunodeficiency
OMIM:143890	APOB	338	HP:0001114	Xanthelasma
OMIM:143890	APOB	338	HP:0001084	Corneal arcus
OMIM:143890	APOB	338	HP:0003124	Hypercholesterolemia
OMIM:143890	EPHX2	2053	HP:0001114	Xanthelasma
OMIM:143890	EPHX2	2053	HP:0001084	Corneal arcus
OMIM:143890	EPHX2	2053	HP:0003124	Hypercholesterolemia
OMIM:143890	LDLRAP1	26119	HP:0001114	Xanthelasma
OMIM:143890	LDLRAP1	26119	HP:0001084	Corneal arcus
OMIM:143890	LDLRAP1	26119	HP:0003124	Hypercholesterolemia
OMIM:143890	PCSK9	255738	HP:0001114	Xanthelasma
OMIM:143890	PCSK9	255738	HP:0001084	Corneal arcus
OMIM:143890	PCSK9	255738	HP:0003124	Hypercholesterolemia
OMIM:143890	LDLR	3949	HP:0001114	Xanthelasma
OMIM:143890	LDLR	3949	HP:0001084	Corneal arcus
OMIM:143890	LDLR	3949	HP:0003124	Hypercholesterolemia
OMIM:616538	B4GAT1	11041	HP:0002119	Ventriculomegaly
OMIM:616538	B4GAT1	11041	HP:0001252	Muscular hypotonia
OMIM:616538	B4GAT1	11041	HP:0000557	Buphthalmos
OMIM:616538	B4GAT1	11041	HP:0000256	Macrocephaly
OMIM:616538	B4GAT1	11041	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	B4GAT1	11041	HP:0000556	Retinal dystrophy
OMIM:616538	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	B4GAT1	11041	HP:0000568	Microphthalmia
OMIM:616538	B4GAT1	11041	HP:0002126	Polymicrogyria
OMIM:616538	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:616538	B4GAT1	11041	HP:0002421	Poor head control
OMIM:616538	B4GAT1	11041	HP:0001344	Absent speech
OMIM:616538	B4GAT1	11041	HP:0000518	Cataract
OMIM:616538	B4GAT1	11041	HP:0000545	Myopia
OMIM:616538	B4GAT1	11041	HP:0002878	Respiratory failure
OMIM:616538	B4GAT1	11041	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	B4GAT1	11041	HP:0001263	Global developmental delay
OMIM:616538	POMT2	29954	HP:0002119	Ventriculomegaly
OMIM:616538	POMT2	29954	HP:0001252	Muscular hypotonia
OMIM:616538	POMT2	29954	HP:0000557	Buphthalmos
OMIM:616538	POMT2	29954	HP:0000256	Macrocephaly
OMIM:616538	POMT2	29954	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	POMT2	29954	HP:0000556	Retinal dystrophy
OMIM:616538	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	POMT2	29954	HP:0000568	Microphthalmia
OMIM:616538	POMT2	29954	HP:0002126	Polymicrogyria
OMIM:616538	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:616538	POMT2	29954	HP:0002421	Poor head control
OMIM:616538	POMT2	29954	HP:0001344	Absent speech
OMIM:616538	POMT2	29954	HP:0000518	Cataract
OMIM:616538	POMT2	29954	HP:0000545	Myopia
OMIM:616538	POMT2	29954	HP:0002878	Respiratory failure
OMIM:616538	POMT2	29954	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	POMT2	29954	HP:0001263	Global developmental delay
OMIM:616538	COL4A1	1282	HP:0002119	Ventriculomegaly
OMIM:616538	COL4A1	1282	HP:0001252	Muscular hypotonia
OMIM:616538	COL4A1	1282	HP:0000557	Buphthalmos
OMIM:616538	COL4A1	1282	HP:0000256	Macrocephaly
OMIM:616538	COL4A1	1282	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	COL4A1	1282	HP:0000556	Retinal dystrophy
OMIM:616538	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	COL4A1	1282	HP:0000568	Microphthalmia
OMIM:616538	COL4A1	1282	HP:0002126	Polymicrogyria
OMIM:616538	COL4A1	1282	HP:0003560	Muscular dystrophy
OMIM:616538	COL4A1	1282	HP:0002421	Poor head control
OMIM:616538	COL4A1	1282	HP:0001344	Absent speech
OMIM:616538	COL4A1	1282	HP:0000518	Cataract
OMIM:616538	COL4A1	1282	HP:0000545	Myopia
OMIM:616538	COL4A1	1282	HP:0002878	Respiratory failure
OMIM:616538	COL4A1	1282	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	COL4A1	1282	HP:0001263	Global developmental delay
OMIM:616538	POMK	84197	HP:0002119	Ventriculomegaly
OMIM:616538	POMK	84197	HP:0001252	Muscular hypotonia
OMIM:616538	POMK	84197	HP:0000557	Buphthalmos
OMIM:616538	POMK	84197	HP:0000256	Macrocephaly
OMIM:616538	POMK	84197	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	POMK	84197	HP:0000556	Retinal dystrophy
OMIM:616538	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	POMK	84197	HP:0000568	Microphthalmia
OMIM:616538	POMK	84197	HP:0002126	Polymicrogyria
OMIM:616538	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:616538	POMK	84197	HP:0002421	Poor head control
OMIM:616538	POMK	84197	HP:0001344	Absent speech
OMIM:616538	POMK	84197	HP:0000518	Cataract
OMIM:616538	POMK	84197	HP:0000545	Myopia
OMIM:616538	POMK	84197	HP:0002878	Respiratory failure
OMIM:616538	POMK	84197	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	POMK	84197	HP:0001263	Global developmental delay
OMIM:616538	DAG1	1605	HP:0002119	Ventriculomegaly
OMIM:616538	DAG1	1605	HP:0001252	Muscular hypotonia
OMIM:616538	DAG1	1605	HP:0000557	Buphthalmos
OMIM:616538	DAG1	1605	HP:0000256	Macrocephaly
OMIM:616538	DAG1	1605	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	DAG1	1605	HP:0000556	Retinal dystrophy
OMIM:616538	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	DAG1	1605	HP:0000568	Microphthalmia
OMIM:616538	DAG1	1605	HP:0002126	Polymicrogyria
OMIM:616538	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:616538	DAG1	1605	HP:0002421	Poor head control
OMIM:616538	DAG1	1605	HP:0001344	Absent speech
OMIM:616538	DAG1	1605	HP:0000518	Cataract
OMIM:616538	DAG1	1605	HP:0000545	Myopia
OMIM:616538	DAG1	1605	HP:0002878	Respiratory failure
OMIM:616538	DAG1	1605	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	DAG1	1605	HP:0001263	Global developmental delay
OMIM:616538	POMGNT1	55624	HP:0002119	Ventriculomegaly
OMIM:616538	POMGNT1	55624	HP:0001252	Muscular hypotonia
OMIM:616538	POMGNT1	55624	HP:0000557	Buphthalmos
OMIM:616538	POMGNT1	55624	HP:0000256	Macrocephaly
OMIM:616538	POMGNT1	55624	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	POMGNT1	55624	HP:0000556	Retinal dystrophy
OMIM:616538	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	POMGNT1	55624	HP:0000568	Microphthalmia
OMIM:616538	POMGNT1	55624	HP:0002126	Polymicrogyria
OMIM:616538	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:616538	POMGNT1	55624	HP:0002421	Poor head control
OMIM:616538	POMGNT1	55624	HP:0001344	Absent speech
OMIM:616538	POMGNT1	55624	HP:0000518	Cataract
OMIM:616538	POMGNT1	55624	HP:0000545	Myopia
OMIM:616538	POMGNT1	55624	HP:0002878	Respiratory failure
OMIM:616538	POMGNT1	55624	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	POMGNT1	55624	HP:0001263	Global developmental delay
OMIM:616538	FKTN	2218	HP:0002119	Ventriculomegaly
OMIM:616538	FKTN	2218	HP:0001252	Muscular hypotonia
OMIM:616538	FKTN	2218	HP:0000557	Buphthalmos
OMIM:616538	FKTN	2218	HP:0000256	Macrocephaly
OMIM:616538	FKTN	2218	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	FKTN	2218	HP:0000556	Retinal dystrophy
OMIM:616538	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	FKTN	2218	HP:0000568	Microphthalmia
OMIM:616538	FKTN	2218	HP:0002126	Polymicrogyria
OMIM:616538	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:616538	FKTN	2218	HP:0002421	Poor head control
OMIM:616538	FKTN	2218	HP:0001344	Absent speech
OMIM:616538	FKTN	2218	HP:0000518	Cataract
OMIM:616538	FKTN	2218	HP:0000545	Myopia
OMIM:616538	FKTN	2218	HP:0002878	Respiratory failure
OMIM:616538	FKTN	2218	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	FKTN	2218	HP:0001263	Global developmental delay
OMIM:616538	FKRP	79147	HP:0002119	Ventriculomegaly
OMIM:616538	FKRP	79147	HP:0001252	Muscular hypotonia
OMIM:616538	FKRP	79147	HP:0000557	Buphthalmos
OMIM:616538	FKRP	79147	HP:0000256	Macrocephaly
OMIM:616538	FKRP	79147	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	FKRP	79147	HP:0000556	Retinal dystrophy
OMIM:616538	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	FKRP	79147	HP:0000568	Microphthalmia
OMIM:616538	FKRP	79147	HP:0002126	Polymicrogyria
OMIM:616538	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:616538	FKRP	79147	HP:0002421	Poor head control
OMIM:616538	FKRP	79147	HP:0001344	Absent speech
OMIM:616538	FKRP	79147	HP:0000518	Cataract
OMIM:616538	FKRP	79147	HP:0000545	Myopia
OMIM:616538	FKRP	79147	HP:0002878	Respiratory failure
OMIM:616538	FKRP	79147	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	FKRP	79147	HP:0001263	Global developmental delay
OMIM:616538	ISPD	729920	HP:0002119	Ventriculomegaly
OMIM:616538	ISPD	729920	HP:0001252	Muscular hypotonia
OMIM:616538	ISPD	729920	HP:0000557	Buphthalmos
OMIM:616538	ISPD	729920	HP:0000256	Macrocephaly
OMIM:616538	ISPD	729920	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	ISPD	729920	HP:0000556	Retinal dystrophy
OMIM:616538	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	ISPD	729920	HP:0000568	Microphthalmia
OMIM:616538	ISPD	729920	HP:0002126	Polymicrogyria
OMIM:616538	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:616538	ISPD	729920	HP:0002421	Poor head control
OMIM:616538	ISPD	729920	HP:0001344	Absent speech
OMIM:616538	ISPD	729920	HP:0000518	Cataract
OMIM:616538	ISPD	729920	HP:0000545	Myopia
OMIM:616538	ISPD	729920	HP:0002878	Respiratory failure
OMIM:616538	ISPD	729920	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	ISPD	729920	HP:0001263	Global developmental delay
OMIM:616538	B3GALNT2	148789	HP:0002119	Ventriculomegaly
OMIM:616538	B3GALNT2	148789	HP:0001252	Muscular hypotonia
OMIM:616538	B3GALNT2	148789	HP:0000557	Buphthalmos
OMIM:616538	B3GALNT2	148789	HP:0000256	Macrocephaly
OMIM:616538	B3GALNT2	148789	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	B3GALNT2	148789	HP:0000556	Retinal dystrophy
OMIM:616538	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	B3GALNT2	148789	HP:0000568	Microphthalmia
OMIM:616538	B3GALNT2	148789	HP:0002126	Polymicrogyria
OMIM:616538	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:616538	B3GALNT2	148789	HP:0002421	Poor head control
OMIM:616538	B3GALNT2	148789	HP:0001344	Absent speech
OMIM:616538	B3GALNT2	148789	HP:0000518	Cataract
OMIM:616538	B3GALNT2	148789	HP:0000545	Myopia
OMIM:616538	B3GALNT2	148789	HP:0002878	Respiratory failure
OMIM:616538	B3GALNT2	148789	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	B3GALNT2	148789	HP:0001263	Global developmental delay
OMIM:616538	POMT1	10585	HP:0002119	Ventriculomegaly
OMIM:616538	POMT1	10585	HP:0001252	Muscular hypotonia
OMIM:616538	POMT1	10585	HP:0000557	Buphthalmos
OMIM:616538	POMT1	10585	HP:0000256	Macrocephaly
OMIM:616538	POMT1	10585	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	POMT1	10585	HP:0000556	Retinal dystrophy
OMIM:616538	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	POMT1	10585	HP:0000568	Microphthalmia
OMIM:616538	POMT1	10585	HP:0002126	Polymicrogyria
OMIM:616538	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:616538	POMT1	10585	HP:0002421	Poor head control
OMIM:616538	POMT1	10585	HP:0001344	Absent speech
OMIM:616538	POMT1	10585	HP:0000518	Cataract
OMIM:616538	POMT1	10585	HP:0000545	Myopia
OMIM:616538	POMT1	10585	HP:0002878	Respiratory failure
OMIM:616538	POMT1	10585	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	POMT1	10585	HP:0001263	Global developmental delay
OMIM:616538	TMEM5	10329	HP:0002119	Ventriculomegaly
OMIM:616538	TMEM5	10329	HP:0001252	Muscular hypotonia
OMIM:616538	TMEM5	10329	HP:0000557	Buphthalmos
OMIM:616538	TMEM5	10329	HP:0000256	Macrocephaly
OMIM:616538	TMEM5	10329	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	TMEM5	10329	HP:0000556	Retinal dystrophy
OMIM:616538	TMEM5	10329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	TMEM5	10329	HP:0000568	Microphthalmia
OMIM:616538	TMEM5	10329	HP:0002126	Polymicrogyria
OMIM:616538	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:616538	TMEM5	10329	HP:0002421	Poor head control
OMIM:616538	TMEM5	10329	HP:0001344	Absent speech
OMIM:616538	TMEM5	10329	HP:0000518	Cataract
OMIM:616538	TMEM5	10329	HP:0000545	Myopia
OMIM:616538	TMEM5	10329	HP:0002878	Respiratory failure
OMIM:616538	TMEM5	10329	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	TMEM5	10329	HP:0001263	Global developmental delay
OMIM:616538	POMGNT2	84892	HP:0002119	Ventriculomegaly
OMIM:616538	POMGNT2	84892	HP:0001252	Muscular hypotonia
OMIM:616538	POMGNT2	84892	HP:0000557	Buphthalmos
OMIM:616538	POMGNT2	84892	HP:0000256	Macrocephaly
OMIM:616538	POMGNT2	84892	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	POMGNT2	84892	HP:0000556	Retinal dystrophy
OMIM:616538	POMGNT2	84892	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	POMGNT2	84892	HP:0000568	Microphthalmia
OMIM:616538	POMGNT2	84892	HP:0002126	Polymicrogyria
OMIM:616538	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:616538	POMGNT2	84892	HP:0002421	Poor head control
OMIM:616538	POMGNT2	84892	HP:0001344	Absent speech
OMIM:616538	POMGNT2	84892	HP:0000518	Cataract
OMIM:616538	POMGNT2	84892	HP:0000545	Myopia
OMIM:616538	POMGNT2	84892	HP:0002878	Respiratory failure
OMIM:616538	POMGNT2	84892	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	POMGNT2	84892	HP:0001263	Global developmental delay
OMIM:616538	LARGE	9215	HP:0002119	Ventriculomegaly
OMIM:616538	LARGE	9215	HP:0001252	Muscular hypotonia
OMIM:616538	LARGE	9215	HP:0000557	Buphthalmos
OMIM:616538	LARGE	9215	HP:0000256	Macrocephaly
OMIM:616538	LARGE	9215	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	LARGE	9215	HP:0000556	Retinal dystrophy
OMIM:616538	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	LARGE	9215	HP:0000568	Microphthalmia
OMIM:616538	LARGE	9215	HP:0002126	Polymicrogyria
OMIM:616538	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:616538	LARGE	9215	HP:0002421	Poor head control
OMIM:616538	LARGE	9215	HP:0001344	Absent speech
OMIM:616538	LARGE	9215	HP:0000518	Cataract
OMIM:616538	LARGE	9215	HP:0000545	Myopia
OMIM:616538	LARGE	9215	HP:0002878	Respiratory failure
OMIM:616538	LARGE	9215	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616538	LARGE	9215	HP:0001263	Global developmental delay
OMIM:313900	WAS	7454	HP:0003011	Abnormality of the musculature
OMIM:313900	WAS	7454	HP:0000964	Eczema
OMIM:313900	WAS	7454	HP:0000967	Petechiae
OMIM:313900	WAS	7454	HP:0001419	X-linked recessive inheritance
OMIM:313900	WAS	7454	HP:0000421	Epistaxis
OMIM:313900	WAS	7454	HP:0000978	Bruising susceptibility
OMIM:614073	HPS4	89781	HP:0001107	Ocular albinism
OMIM:614073	HPS4	89781	HP:0001022	Albinism
OMIM:614073	HPS4	89781	HP:0002206	Pulmonary fibrosis
OMIM:614073	HPS4	89781	HP:0011883	Abnormal platelet granules
OMIM:614073	HPS4	89781	HP:0000007	Autosomal recessive inheritance
OMIM:614073	HPS1	3257	HP:0001107	Ocular albinism
OMIM:614073	HPS1	3257	HP:0001022	Albinism
OMIM:614073	HPS1	3257	HP:0002206	Pulmonary fibrosis
OMIM:614073	HPS1	3257	HP:0011883	Abnormal platelet granules
OMIM:614073	HPS1	3257	HP:0000007	Autosomal recessive inheritance
OMIM:616276	COQ4	51117	HP:0001662	Bradycardia
OMIM:616276	COQ4	51117	HP:0001250	Seizures
OMIM:616276	COQ4	51117	HP:0001643	Patent ductus arteriosus
OMIM:616276	COQ4	51117	HP:0002093	Respiratory insufficiency
OMIM:616276	COQ4	51117	HP:0001511	Intrauterine growth retardation
OMIM:616276	COQ4	51117	HP:0001252	Muscular hypotonia
OMIM:616276	COQ4	51117	HP:0001321	Cerebellar hypoplasia
OMIM:616276	COQ4	51117	HP:0001639	Hypertrophic cardiomyopathy
OMIM:616276	COQ4	51117	HP:0002015	Dysphagia
OMIM:616276	COQ4	51117	HP:0002151	Increased serum lactate
OMIM:616276	COQ4	51117	HP:0002650	Scoliosis
OMIM:616276	COQ4	51117	HP:0200134	Epileptic encephalopathy
OMIM:614205	CCDC8	83987	HP:0003307	Hyperlordosis
OMIM:614205	CCDC8	83987	HP:0000325	Triangular face
OMIM:614205	CCDC8	83987	HP:0000272	Malar flattening
OMIM:614205	CCDC8	83987	HP:0000463	Anteverted nares
OMIM:614205	CCDC8	83987	HP:0002007	Frontal bossing
OMIM:614205	CCDC8	83987	HP:0000268	Dolichocephaly
OMIM:614205	CCDC8	83987	HP:0000307	Pointed chin
OMIM:614205	CCDC8	83987	HP:0003100	Slender long bone
OMIM:614205	CCDC8	83987	HP:0000007	Autosomal recessive inheritance
OMIM:614205	CCDC8	83987	HP:0004322	Short stature
OMIM:614205	CCDC8	83987	HP:0010306	Short thorax
OMIM:614205	CCDC8	83987	HP:0001518	Small for gestational age
OMIM:614205	CCDC8	83987	HP:0011800	Hypoplasia of midface
OMIM:614205	CCDC8	83987	HP:0000470	Short neck
OMIM:614205	CCDC8	83987	HP:0000411	Protruding ear
OMIM:614205	CCDC8	83987	HP:0001385	Hip dysplasia
OMIM:614205	OBSL1	23363	HP:0003307	Hyperlordosis
OMIM:614205	OBSL1	23363	HP:0000325	Triangular face
OMIM:614205	OBSL1	23363	HP:0000272	Malar flattening
OMIM:614205	OBSL1	23363	HP:0000463	Anteverted nares
OMIM:614205	OBSL1	23363	HP:0002007	Frontal bossing
OMIM:614205	OBSL1	23363	HP:0000268	Dolichocephaly
OMIM:614205	OBSL1	23363	HP:0000307	Pointed chin
OMIM:614205	OBSL1	23363	HP:0003100	Slender long bone
OMIM:614205	OBSL1	23363	HP:0000007	Autosomal recessive inheritance
OMIM:614205	OBSL1	23363	HP:0004322	Short stature
OMIM:614205	OBSL1	23363	HP:0010306	Short thorax
OMIM:614205	OBSL1	23363	HP:0001518	Small for gestational age
OMIM:614205	OBSL1	23363	HP:0011800	Hypoplasia of midface
OMIM:614205	OBSL1	23363	HP:0000470	Short neck
OMIM:614205	OBSL1	23363	HP:0000411	Protruding ear
OMIM:614205	OBSL1	23363	HP:0001385	Hip dysplasia
OMIM:614205	CUL7	9820	HP:0003307	Hyperlordosis
OMIM:614205	CUL7	9820	HP:0000325	Triangular face
OMIM:614205	CUL7	9820	HP:0000272	Malar flattening
OMIM:614205	CUL7	9820	HP:0000463	Anteverted nares
OMIM:614205	CUL7	9820	HP:0002007	Frontal bossing
OMIM:614205	CUL7	9820	HP:0000268	Dolichocephaly
OMIM:614205	CUL7	9820	HP:0000307	Pointed chin
OMIM:614205	CUL7	9820	HP:0003100	Slender long bone
OMIM:614205	CUL7	9820	HP:0000007	Autosomal recessive inheritance
OMIM:614205	CUL7	9820	HP:0004322	Short stature
OMIM:614205	CUL7	9820	HP:0010306	Short thorax
OMIM:614205	CUL7	9820	HP:0001518	Small for gestational age
OMIM:614205	CUL7	9820	HP:0011800	Hypoplasia of midface
OMIM:614205	CUL7	9820	HP:0000470	Short neck
OMIM:614205	CUL7	9820	HP:0000411	Protruding ear
OMIM:614205	CUL7	9820	HP:0001385	Hip dysplasia
ORPHANET:3473	KCNH1	3756	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:3473	KCNH1	3756	HP:0000486	Strabismus
ORPHANET:3473	KCNH1	3756	HP:0001382	Joint hypermobility
ORPHANET:3473	KCNH1	3756	HP:0002650	Scoliosis
ORPHANET:3473	KCNH1	3756	HP:0001744	Splenomegaly
ORPHANET:3473	KCNH1	3756	HP:0000365	Hearing impairment
ORPHANET:3473	KCNH1	3756	HP:0000154	Wide mouth
ORPHANET:3473	KCNH1	3756	HP:0000212	Gingival overgrowth
ORPHANET:3473	KCNH1	3756	HP:0002240	Hepatomegaly
ORPHANET:3473	KCNH1	3756	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
ORPHANET:3473	KCNH1	3756	HP:0000998	Hypertrichosis
ORPHANET:3473	KCNH1	3756	HP:0001798	Anonychia
ORPHANET:3473	KCNH1	3756	HP:0002162	Low posterior hairline
ORPHANET:3473	KCNH1	3756	HP:0000040	Long penis
ORPHANET:3473	KCNH1	3756	HP:0000179	Thick lower lip vermilion
ORPHANET:3473	KCNH1	3756	HP:0000280	Coarse facial features
ORPHANET:3473	KCNH1	3756	HP:0001231	Abnormality of the fingernails
ORPHANET:3473	KCNH1	3756	HP:0002167	Neurological speech impairment
ORPHANET:3473	KCNH1	3756	HP:0009748	Large earlobe
ORPHANET:3473	KCNH1	3756	HP:0009882	Short distal phalanx of finger
ORPHANET:3473	KCNH1	3756	HP:0000288	Abnormality of the philtrum
ORPHANET:3473	KCNH1	3756	HP:0001643	Patent ductus arteriosus
ORPHANET:3473	KCNH1	3756	HP:0001250	Seizures
ORPHANET:3473	KCNH1	3756	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:3473	KCNH1	3756	HP:0005105	Abnormal nasal morphology
ORPHANET:3473	KCNH1	3756	HP:0100543	Cognitive impairment
ORPHANET:3473	KCNH1	3756	HP:0001800	Hypoplastic toenails
ORPHANET:3473	KCNH1	3756	HP:0000684	Delayed eruption of teeth
ORPHANET:3473	KCNH1	3756	HP:0000772	Abnormality of the ribs
ORPHANET:3473	KCNH1	3756	HP:0000400	Macrotia
ORPHANET:3473	ATP6V1B2	526	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:3473	ATP6V1B2	526	HP:0000486	Strabismus
ORPHANET:3473	ATP6V1B2	526	HP:0001382	Joint hypermobility
ORPHANET:3473	ATP6V1B2	526	HP:0002650	Scoliosis
ORPHANET:3473	ATP6V1B2	526	HP:0001744	Splenomegaly
ORPHANET:3473	ATP6V1B2	526	HP:0000365	Hearing impairment
ORPHANET:3473	ATP6V1B2	526	HP:0000154	Wide mouth
ORPHANET:3473	ATP6V1B2	526	HP:0000212	Gingival overgrowth
ORPHANET:3473	ATP6V1B2	526	HP:0002240	Hepatomegaly
ORPHANET:3473	ATP6V1B2	526	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
ORPHANET:3473	ATP6V1B2	526	HP:0000998	Hypertrichosis
ORPHANET:3473	ATP6V1B2	526	HP:0001798	Anonychia
ORPHANET:3473	ATP6V1B2	526	HP:0002162	Low posterior hairline
ORPHANET:3473	ATP6V1B2	526	HP:0000040	Long penis
ORPHANET:3473	ATP6V1B2	526	HP:0000179	Thick lower lip vermilion
ORPHANET:3473	ATP6V1B2	526	HP:0000280	Coarse facial features
ORPHANET:3473	ATP6V1B2	526	HP:0001231	Abnormality of the fingernails
ORPHANET:3473	ATP6V1B2	526	HP:0002167	Neurological speech impairment
ORPHANET:3473	ATP6V1B2	526	HP:0009748	Large earlobe
ORPHANET:3473	ATP6V1B2	526	HP:0009882	Short distal phalanx of finger
ORPHANET:3473	ATP6V1B2	526	HP:0000288	Abnormality of the philtrum
ORPHANET:3473	ATP6V1B2	526	HP:0001643	Patent ductus arteriosus
ORPHANET:3473	ATP6V1B2	526	HP:0001250	Seizures
ORPHANET:3473	ATP6V1B2	526	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:3473	ATP6V1B2	526	HP:0005105	Abnormal nasal morphology
ORPHANET:3473	ATP6V1B2	526	HP:0100543	Cognitive impairment
ORPHANET:3473	ATP6V1B2	526	HP:0001800	Hypoplastic toenails
ORPHANET:3473	ATP6V1B2	526	HP:0000684	Delayed eruption of teeth
ORPHANET:3473	ATP6V1B2	526	HP:0000772	Abnormality of the ribs
ORPHANET:3473	ATP6V1B2	526	HP:0000400	Macrotia
OMIM:609464	NOD2	64127	HP:0000006	Autosomal dominant inheritance
OMIM:211750	CD96	10225	HP:0010049	Short metacarpal
OMIM:211750	CD96	10225	HP:0000286	Epicanthus
OMIM:211750	CD96	10225	HP:0000347	Micrognathia
OMIM:211750	CD96	10225	HP:0000470	Short neck
OMIM:211750	CD96	10225	HP:0000582	Upslanted palpebral fissure
OMIM:211750	CD96	10225	HP:0001250	Seizures
OMIM:211750	CD96	10225	HP:0001561	Polyhydramnios
OMIM:211750	CD96	10225	HP:0001373	Joint dislocation
OMIM:211750	CD96	10225	HP:0001539	Omphalocele
OMIM:211750	CD96	10225	HP:0001162	Postaxial hand polydactyly
OMIM:211750	CD96	10225	HP:0000154	Wide mouth
OMIM:211750	CD96	10225	HP:0000243	Trigonocephaly
OMIM:211750	CD96	10225	HP:0001629	Ventricular septal defect
OMIM:211750	CD96	10225	HP:0008678	Renal hypoplasia/aplasia
OMIM:211750	CD96	10225	HP:0000007	Autosomal recessive inheritance
OMIM:211750	CD96	10225	HP:0004322	Short stature
OMIM:211750	CD96	10225	HP:0000803	Renal cortical cysts
OMIM:211750	CD96	10225	HP:0001643	Patent ductus arteriosus
OMIM:211750	CD96	10225	HP:0004209	Clinodactyly of the 5th finger
OMIM:211750	CD96	10225	HP:0000003	Multicystic kidney dysplasia
OMIM:211750	CD96	10225	HP:0001883	Talipes
OMIM:211750	CD96	10225	HP:0001376	Limitation of joint mobility
OMIM:211750	CD96	10225	HP:0000218	High palate
OMIM:211750	CD96	10225	HP:0001161	Hand polydactyly
OMIM:211750	CD96	10225	HP:0000252	Microcephaly
OMIM:211750	CD96	10225	HP:0001252	Muscular hypotonia
OMIM:211750	CD96	10225	HP:0009465	Ulnar deviation of finger
OMIM:211750	CD96	10225	HP:0000486	Strabismus
OMIM:211750	CD96	10225	HP:0001770	Toe syndactyly
OMIM:211750	CD96	10225	HP:0000175	Cleft palate
OMIM:211750	CD96	10225	HP:0100589	Urogenital fistula
OMIM:211750	CD96	10225	HP:0003083	Dislocated radial head
OMIM:211750	CD96	10225	HP:0000341	Narrow forehead
OMIM:211750	CD96	10225	HP:0000343	Long philtrum
OMIM:211750	CD96	10225	HP:0000057	Clitoromegaly
OMIM:211750	CD96	10225	HP:0100542	Abnormal localization of kidney
OMIM:211750	CD96	10225	HP:0000233	Thin vermilion border
OMIM:211750	CD96	10225	HP:0002240	Hepatomegaly
OMIM:211750	CD96	10225	HP:0000954	Single transverse palmar crease
OMIM:211750	CD96	10225	HP:0000212	Gingival overgrowth
OMIM:211750	CD96	10225	HP:0002750	Delayed skeletal maturation
OMIM:211750	CD96	10225	HP:0000431	Wide nasal bridge
OMIM:211750	CD96	10225	HP:0010978	Abnormality of immune system physiology
OMIM:211750	CD96	10225	HP:0000368	Low-set, posteriorly rotated ears
OMIM:211750	CD96	10225	HP:0005280	Depressed nasal bridge
OMIM:211750	CD96	10225	HP:0000463	Anteverted nares
OMIM:211750	CD96	10225	HP:0010458	Female pseudohermaphroditism
OMIM:211750	CD96	10225	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:211750	CD96	10225	HP:0000369	Low-set ears
OMIM:211750	CD96	10225	HP:0000028	Cryptorchidism
OMIM:211750	CD96	10225	HP:0030084	Clinodactyly
OMIM:211750	CD96	10225	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:211750	CD96	10225	HP:0000973	Cutis laxa
OMIM:211750	CD96	10225	HP:0000776	Congenital diaphragmatic hernia
OMIM:211750	CD96	10225	HP:0009466	Radial deviation of finger
OMIM:211750	CD96	10225	HP:0002827	Hip dislocation
OMIM:211750	CD96	10225	HP:0003196	Short nose
OMIM:211750	CD96	10225	HP:0002983	Micromelia
OMIM:211750	CD96	10225	HP:0000767	Pectus excavatum
OMIM:211750	CD96	10225	HP:0002650	Scoliosis
OMIM:211750	CD96	10225	HP:0000960	Sacral dimple
OMIM:211750	CD96	10225	HP:0002019	Constipation
OMIM:211750	CD96	10225	HP:0000358	Posteriorly rotated ears
OMIM:211750	CD96	10225	HP:0100543	Cognitive impairment
OMIM:211750	CD96	10225	HP:0001263	Global developmental delay
OMIM:211750	CD96	10225	HP:0001508	Failure to thrive
OMIM:225410	ADAMTS2	9509	HP:0012471	Thick vermilion border
OMIM:225410	ADAMTS2	9509	HP:0000347	Micrognathia
OMIM:225410	ADAMTS2	9509	HP:0001027	Soft, doughy skin
OMIM:225410	ADAMTS2	9509	HP:0001270	Motor delay
OMIM:225410	ADAMTS2	9509	HP:0003272	Abnormality of the hip bone
OMIM:225410	ADAMTS2	9509	HP:0001831	Short toe
OMIM:225410	ADAMTS2	9509	HP:0004349	Reduced bone mineral density
OMIM:225410	ADAMTS2	9509	HP:0000225	Gingival bleeding
OMIM:225410	ADAMTS2	9509	HP:0000286	Epicanthus
OMIM:225410	ADAMTS2	9509	HP:0001928	Abnormality of coagulation
OMIM:225410	ADAMTS2	9509	HP:0000212	Gingival overgrowth
OMIM:225410	ADAMTS2	9509	HP:0000232	Everted lower lip vermilion
OMIM:225410	ADAMTS2	9509	HP:0009803	Short phalanx of finger
OMIM:225410	ADAMTS2	9509	HP:0001537	Umbilical hernia
OMIM:225410	ADAMTS2	9509	HP:0000007	Autosomal recessive inheritance
OMIM:225410	ADAMTS2	9509	HP:0001582	Redundant skin
OMIM:225410	ADAMTS2	9509	HP:0000023	Inguinal hernia
OMIM:225410	ADAMTS2	9509	HP:0001252	Muscular hypotonia
OMIM:225410	ADAMTS2	9509	HP:0000316	Hypertelorism
OMIM:225410	ADAMTS2	9509	HP:0001030	Fragile skin
OMIM:225410	ADAMTS2	9509	HP:0001373	Joint dislocation
OMIM:225410	ADAMTS2	9509	HP:0000938	Osteopenia
OMIM:225410	ADAMTS2	9509	HP:0002983	Micromelia
OMIM:225410	ADAMTS2	9509	HP:0001007	Hirsutism
OMIM:225410	ADAMTS2	9509	HP:0002650	Scoliosis
OMIM:225410	ADAMTS2	9509	HP:0000592	Blue sclerae
OMIM:225410	ADAMTS2	9509	HP:0005280	Depressed nasal bridge
OMIM:225410	ADAMTS2	9509	HP:0001622	Premature birth
OMIM:225410	ADAMTS2	9509	HP:0000668	Hypodontia
OMIM:225410	ADAMTS2	9509	HP:0002167	Neurological speech impairment
OMIM:225410	ADAMTS2	9509	HP:0000974	Hyperextensible skin
OMIM:225410	ADAMTS2	9509	HP:0004322	Short stature
OMIM:225410	ADAMTS2	9509	HP:0000978	Bruising susceptibility
OMIM:225410	ADAMTS2	9509	HP:0001376	Limitation of joint mobility
OMIM:225410	ADAMTS2	9509	HP:0001388	Joint laxity
OMIM:225410	ADAMTS2	9509	HP:0000545	Myopia
OMIM:225410	ADAMTS2	9509	HP:0000987	Atypical scarring of skin
OMIM:225410	ADAMTS2	9509	HP:0000494	Downslanted palpebral fissures
OMIM:225410	ADAMTS2	9509	HP:0000963	Thin skin
OMIM:128230	GCH1	2643	HP:0003812	Phenotypic variability
OMIM:128230	GCH1	2643	HP:0001761	Pes cavus
OMIM:128230	GCH1	2643	HP:0011463	Childhood onset
OMIM:128230	GCH1	2643	HP:0003487	Babinski sign
OMIM:128230	GCH1	2643	HP:0000006	Autosomal dominant inheritance
OMIM:128230	GCH1	2643	HP:0000007	Autosomal recessive inheritance
OMIM:128230	GCH1	2643	HP:0002650	Scoliosis
OMIM:128230	GCH1	2643	HP:0001347	Hyperreflexia
OMIM:128230	GCH1	2643	HP:0000473	Torticollis
OMIM:128230	GCH1	2643	HP:0001762	Talipes equinovarus
OMIM:128230	GCH1	2643	HP:0002356	Writer's cramp
OMIM:128230	GCH1	2643	HP:0002066	Gait ataxia
OMIM:128230	GCH1	2643	HP:0001300	Parkinsonism
OMIM:149000	AGGF1	55109	HP:0001250	Seizures
OMIM:149000	AGGF1	55109	HP:0000098	Tall stature
OMIM:149000	AGGF1	55109	HP:0001541	Ascites
OMIM:149000	AGGF1	55109	HP:0002093	Respiratory insufficiency
OMIM:149000	AGGF1	55109	HP:0001789	Hydrops fetalis
OMIM:149000	AGGF1	55109	HP:0002204	Pulmonary embolism
OMIM:149000	AGGF1	55109	HP:0005293	Venous insufficiency
OMIM:149000	AGGF1	55109	HP:0000501	Glaucoma
OMIM:149000	AGGF1	55109	HP:0000140	Abnormality of the menstrual cycle
OMIM:149000	AGGF1	55109	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:149000	AGGF1	55109	HP:0001249	Intellectual disability
OMIM:149000	AGGF1	55109	HP:0003745	Sporadic
OMIM:149000	AGGF1	55109	HP:0100658	Cellulitis
OMIM:149000	AGGF1	55109	HP:0001631	Atria septal defect
OMIM:149000	AGGF1	55109	HP:0002240	Hepatomegaly
OMIM:149000	AGGF1	55109	HP:0000790	Hematuria
OMIM:149000	AGGF1	55109	HP:0004414	Abnormality of the pulmonary artery
OMIM:149000	AGGF1	55109	HP:0001635	Congestive heart failure
OMIM:149000	AGGF1	55109	HP:0000256	Macrocephaly
OMIM:149000	AGGF1	55109	HP:0001004	Lymphedema
OMIM:149000	AGGF1	55109	HP:0001159	Syndactyly
OMIM:149000	AGGF1	55109	HP:0001028	Hemangioma
OMIM:149000	AGGF1	55109	HP:0001702	Abnormality of the tricuspid valve
OMIM:149000	AGGF1	55109	HP:0001643	Patent ductus arteriosus
OMIM:149000	AGGF1	55109	HP:0002239	Gastrointestinal hemorrhage
OMIM:149000	AGGF1	55109	HP:0100543	Cognitive impairment
OMIM:149000	AGGF1	55109	HP:0000252	Microcephaly
OMIM:149000	AGGF1	55109	HP:0001161	Hand polydactyly
OMIM:149000	AGGF1	55109	HP:0000951	Abnormality of the skin
OMIM:149000	AGGF1	55109	HP:0004418	Thrombophlebitis
OMIM:601777	AIPL1	23746	HP:0007994	Peripheral visual field loss
OMIM:601777	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:601777	AIPL1	23746	HP:0011463	Childhood onset
OMIM:601777	AIPL1	23746	HP:0000006	Autosomal dominant inheritance
OMIM:601777	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	PITPNM3	83394	HP:0007994	Peripheral visual field loss
OMIM:601777	PITPNM3	83394	HP:0007663	Reduced visual acuity
OMIM:601777	PITPNM3	83394	HP:0011463	Childhood onset
OMIM:601777	PITPNM3	83394	HP:0000006	Autosomal dominant inheritance
OMIM:601777	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	OPN1LW	5956	HP:0007994	Peripheral visual field loss
OMIM:601777	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:601777	OPN1LW	5956	HP:0011463	Childhood onset
OMIM:601777	OPN1LW	5956	HP:0000006	Autosomal dominant inheritance
OMIM:601777	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	UNC119	9094	HP:0007994	Peripheral visual field loss
OMIM:601777	UNC119	9094	HP:0007663	Reduced visual acuity
OMIM:601777	UNC119	9094	HP:0011463	Childhood onset
OMIM:601777	UNC119	9094	HP:0000006	Autosomal dominant inheritance
OMIM:601777	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	RPGRIP1	57096	HP:0007994	Peripheral visual field loss
OMIM:601777	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:601777	RPGRIP1	57096	HP:0011463	Childhood onset
OMIM:601777	RPGRIP1	57096	HP:0000006	Autosomal dominant inheritance
OMIM:601777	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	PRPH2	5961	HP:0007994	Peripheral visual field loss
OMIM:601777	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:601777	PRPH2	5961	HP:0011463	Childhood onset
OMIM:601777	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:601777	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	CACNA1F	778	HP:0007994	Peripheral visual field loss
OMIM:601777	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:601777	CACNA1F	778	HP:0011463	Childhood onset
OMIM:601777	CACNA1F	778	HP:0000006	Autosomal dominant inheritance
OMIM:601777	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	PROM1	8842	HP:0007994	Peripheral visual field loss
OMIM:601777	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:601777	PROM1	8842	HP:0011463	Childhood onset
OMIM:601777	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:601777	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	DRAM2	128338	HP:0007994	Peripheral visual field loss
OMIM:601777	DRAM2	128338	HP:0007663	Reduced visual acuity
OMIM:601777	DRAM2	128338	HP:0011463	Childhood onset
OMIM:601777	DRAM2	128338	HP:0000006	Autosomal dominant inheritance
OMIM:601777	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	CACNA2D4	93589	HP:0007994	Peripheral visual field loss
OMIM:601777	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:601777	CACNA2D4	93589	HP:0011463	Childhood onset
OMIM:601777	CACNA2D4	93589	HP:0000006	Autosomal dominant inheritance
OMIM:601777	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	RAB28	9364	HP:0007994	Peripheral visual field loss
OMIM:601777	RAB28	9364	HP:0007663	Reduced visual acuity
OMIM:601777	RAB28	9364	HP:0011463	Childhood onset
OMIM:601777	RAB28	9364	HP:0000006	Autosomal dominant inheritance
OMIM:601777	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	RIMS1	22999	HP:0007994	Peripheral visual field loss
OMIM:601777	RIMS1	22999	HP:0007663	Reduced visual acuity
OMIM:601777	RIMS1	22999	HP:0011463	Childhood onset
OMIM:601777	RIMS1	22999	HP:0000006	Autosomal dominant inheritance
OMIM:601777	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	RPGR	6103	HP:0007994	Peripheral visual field loss
OMIM:601777	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:601777	RPGR	6103	HP:0011463	Childhood onset
OMIM:601777	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:601777	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	ABCA4	24	HP:0007994	Peripheral visual field loss
OMIM:601777	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:601777	ABCA4	24	HP:0011463	Childhood onset
OMIM:601777	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:601777	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	SEMA4A	64218	HP:0007994	Peripheral visual field loss
OMIM:601777	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:601777	SEMA4A	64218	HP:0011463	Childhood onset
OMIM:601777	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:601777	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	C8ORF37	157657	HP:0007994	Peripheral visual field loss
OMIM:601777	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:601777	C8ORF37	157657	HP:0011463	Childhood onset
OMIM:601777	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:601777	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	OPN1MW	2652	HP:0007994	Peripheral visual field loss
OMIM:601777	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:601777	OPN1MW	2652	HP:0011463	Childhood onset
OMIM:601777	OPN1MW	2652	HP:0000006	Autosomal dominant inheritance
OMIM:601777	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	GUCA1A	2978	HP:0007994	Peripheral visual field loss
OMIM:601777	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:601777	GUCA1A	2978	HP:0011463	Childhood onset
OMIM:601777	GUCA1A	2978	HP:0000006	Autosomal dominant inheritance
OMIM:601777	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	RAX2	84839	HP:0007994	Peripheral visual field loss
OMIM:601777	RAX2	84839	HP:0007663	Reduced visual acuity
OMIM:601777	RAX2	84839	HP:0011463	Childhood onset
OMIM:601777	RAX2	84839	HP:0000006	Autosomal dominant inheritance
OMIM:601777	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	CNGA3	1261	HP:0007994	Peripheral visual field loss
OMIM:601777	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:601777	CNGA3	1261	HP:0011463	Childhood onset
OMIM:601777	CNGA3	1261	HP:0000006	Autosomal dominant inheritance
OMIM:601777	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	ADAM9	8754	HP:0007994	Peripheral visual field loss
OMIM:601777	ADAM9	8754	HP:0007663	Reduced visual acuity
OMIM:601777	ADAM9	8754	HP:0011463	Childhood onset
OMIM:601777	ADAM9	8754	HP:0000006	Autosomal dominant inheritance
OMIM:601777	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	CDHR1	92211	HP:0007994	Peripheral visual field loss
OMIM:601777	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:601777	CDHR1	92211	HP:0011463	Childhood onset
OMIM:601777	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:601777	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	TTLL5	23093	HP:0007994	Peripheral visual field loss
OMIM:601777	TTLL5	23093	HP:0007663	Reduced visual acuity
OMIM:601777	TTLL5	23093	HP:0011463	Childhood onset
OMIM:601777	TTLL5	23093	HP:0000006	Autosomal dominant inheritance
OMIM:601777	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	GUCY2D	3000	HP:0007994	Peripheral visual field loss
OMIM:601777	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:601777	GUCY2D	3000	HP:0011463	Childhood onset
OMIM:601777	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:601777	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	POC1B	282809	HP:0007994	Peripheral visual field loss
OMIM:601777	POC1B	282809	HP:0007663	Reduced visual acuity
OMIM:601777	POC1B	282809	HP:0011463	Childhood onset
OMIM:601777	POC1B	282809	HP:0000006	Autosomal dominant inheritance
OMIM:601777	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:601777	CRX	1406	HP:0007994	Peripheral visual field loss
OMIM:601777	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:601777	CRX	1406	HP:0011463	Childhood onset
OMIM:601777	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:601777	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:100300	NOTCH1	4851	HP:0001250	Seizures
OMIM:100300	NOTCH1	4851	HP:0001631	Atria septal defect
OMIM:100300	NOTCH1	4851	HP:0000568	Microphthalmia
OMIM:100300	NOTCH1	4851	HP:0002119	Ventriculomegaly
OMIM:100300	NOTCH1	4851	HP:0000006	Autosomal dominant inheritance
OMIM:100300	NOTCH1	4851	HP:0001263	Global developmental delay
OMIM:100300	NOTCH1	4851	HP:0002558	Supernumerary nipple
OMIM:100300	NOTCH1	4851	HP:0002126	Polymicrogyria
OMIM:100300	NOTCH1	4851	HP:0002539	Cortical dysplasia
OMIM:100300	NOTCH1	4851	HP:0001252	Muscular hypotonia
OMIM:100300	NOTCH1	4851	HP:0001770	Toe syndactyly
OMIM:100300	NOTCH1	4851	HP:0001156	Brachydactyly syndrome
OMIM:100300	NOTCH1	4851	HP:0000175	Cleft palate
OMIM:100300	NOTCH1	4851	HP:0001642	Pulmonic stenosis
OMIM:100300	NOTCH1	4851	HP:0004415	Pulmonary artery stenosis
OMIM:100300	NOTCH1	4851	HP:0000252	Microcephaly
OMIM:100300	NOTCH1	4851	HP:0001792	Small nail
OMIM:100300	NOTCH1	4851	HP:0000565	Esotropia
OMIM:100300	NOTCH1	4851	HP:0001762	Talipes equinovarus
OMIM:100300	NOTCH1	4851	HP:0002079	Hypoplasia of the corpus callosum
OMIM:100300	NOTCH1	4851	HP:0001249	Intellectual disability
OMIM:100300	NOTCH1	4851	HP:0001302	Pachygyria
OMIM:100300	NOTCH1	4851	HP:0000204	Cleft upper lip
OMIM:100300	NOTCH1	4851	HP:0001636	Tetralogy of Fallot
OMIM:100300	NOTCH1	4851	HP:0000965	Cutis marmorata
OMIM:100300	NOTCH1	4851	HP:0001629	Ventricular septal defect
OMIM:100300	NOTCH1	4851	HP:0001596	Alopecia
OMIM:100300	NOTCH1	4851	HP:0002084	Encephalocele
OMIM:100300	NOTCH1	4851	HP:0003812	Phenotypic variability
OMIM:100300	NOTCH1	4851	HP:0000007	Autosomal recessive inheritance
OMIM:100300	NOTCH1	4851	HP:0001547	Abnormality of the rib cage
OMIM:100300	NOTCH1	4851	HP:0000119	Abnormality of the genitourinary system
OMIM:100300	DOCK6	57572	HP:0001250	Seizures
OMIM:100300	DOCK6	57572	HP:0001631	Atria septal defect
OMIM:100300	DOCK6	57572	HP:0000568	Microphthalmia
OMIM:100300	DOCK6	57572	HP:0002119	Ventriculomegaly
OMIM:100300	DOCK6	57572	HP:0000006	Autosomal dominant inheritance
OMIM:100300	DOCK6	57572	HP:0001263	Global developmental delay
OMIM:100300	DOCK6	57572	HP:0002558	Supernumerary nipple
OMIM:100300	DOCK6	57572	HP:0002126	Polymicrogyria
OMIM:100300	DOCK6	57572	HP:0002539	Cortical dysplasia
OMIM:100300	DOCK6	57572	HP:0001252	Muscular hypotonia
OMIM:100300	DOCK6	57572	HP:0001770	Toe syndactyly
OMIM:100300	DOCK6	57572	HP:0001156	Brachydactyly syndrome
OMIM:100300	DOCK6	57572	HP:0000175	Cleft palate
OMIM:100300	DOCK6	57572	HP:0001642	Pulmonic stenosis
OMIM:100300	DOCK6	57572	HP:0004415	Pulmonary artery stenosis
OMIM:100300	DOCK6	57572	HP:0000252	Microcephaly
OMIM:100300	DOCK6	57572	HP:0001792	Small nail
OMIM:100300	DOCK6	57572	HP:0000565	Esotropia
OMIM:100300	DOCK6	57572	HP:0001762	Talipes equinovarus
OMIM:100300	DOCK6	57572	HP:0002079	Hypoplasia of the corpus callosum
OMIM:100300	DOCK6	57572	HP:0001249	Intellectual disability
OMIM:100300	DOCK6	57572	HP:0001302	Pachygyria
OMIM:100300	DOCK6	57572	HP:0000204	Cleft upper lip
OMIM:100300	DOCK6	57572	HP:0001636	Tetralogy of Fallot
OMIM:100300	DOCK6	57572	HP:0000965	Cutis marmorata
OMIM:100300	DOCK6	57572	HP:0001629	Ventricular septal defect
OMIM:100300	DOCK6	57572	HP:0001596	Alopecia
OMIM:100300	DOCK6	57572	HP:0002084	Encephalocele
OMIM:100300	DOCK6	57572	HP:0003812	Phenotypic variability
OMIM:100300	DOCK6	57572	HP:0000007	Autosomal recessive inheritance
OMIM:100300	DOCK6	57572	HP:0001547	Abnormality of the rib cage
OMIM:100300	DOCK6	57572	HP:0000119	Abnormality of the genitourinary system
OMIM:100300	EOGT	285203	HP:0001250	Seizures
OMIM:100300	EOGT	285203	HP:0001631	Atria septal defect
OMIM:100300	EOGT	285203	HP:0000568	Microphthalmia
OMIM:100300	EOGT	285203	HP:0002119	Ventriculomegaly
OMIM:100300	EOGT	285203	HP:0000006	Autosomal dominant inheritance
OMIM:100300	EOGT	285203	HP:0001263	Global developmental delay
OMIM:100300	EOGT	285203	HP:0002558	Supernumerary nipple
OMIM:100300	EOGT	285203	HP:0002126	Polymicrogyria
OMIM:100300	EOGT	285203	HP:0002539	Cortical dysplasia
OMIM:100300	EOGT	285203	HP:0001252	Muscular hypotonia
OMIM:100300	EOGT	285203	HP:0001770	Toe syndactyly
OMIM:100300	EOGT	285203	HP:0001156	Brachydactyly syndrome
OMIM:100300	EOGT	285203	HP:0000175	Cleft palate
OMIM:100300	EOGT	285203	HP:0001642	Pulmonic stenosis
OMIM:100300	EOGT	285203	HP:0004415	Pulmonary artery stenosis
OMIM:100300	EOGT	285203	HP:0000252	Microcephaly
OMIM:100300	EOGT	285203	HP:0001792	Small nail
OMIM:100300	EOGT	285203	HP:0000565	Esotropia
OMIM:100300	EOGT	285203	HP:0001762	Talipes equinovarus
OMIM:100300	EOGT	285203	HP:0002079	Hypoplasia of the corpus callosum
OMIM:100300	EOGT	285203	HP:0001249	Intellectual disability
OMIM:100300	EOGT	285203	HP:0001302	Pachygyria
OMIM:100300	EOGT	285203	HP:0000204	Cleft upper lip
OMIM:100300	EOGT	285203	HP:0001636	Tetralogy of Fallot
OMIM:100300	EOGT	285203	HP:0000965	Cutis marmorata
OMIM:100300	EOGT	285203	HP:0001629	Ventricular septal defect
OMIM:100300	EOGT	285203	HP:0001596	Alopecia
OMIM:100300	EOGT	285203	HP:0002084	Encephalocele
OMIM:100300	EOGT	285203	HP:0003812	Phenotypic variability
OMIM:100300	EOGT	285203	HP:0000007	Autosomal recessive inheritance
OMIM:100300	EOGT	285203	HP:0001547	Abnormality of the rib cage
OMIM:100300	EOGT	285203	HP:0000119	Abnormality of the genitourinary system
OMIM:100300	DLL4	54567	HP:0001250	Seizures
OMIM:100300	DLL4	54567	HP:0001631	Atria septal defect
OMIM:100300	DLL4	54567	HP:0000568	Microphthalmia
OMIM:100300	DLL4	54567	HP:0002119	Ventriculomegaly
OMIM:100300	DLL4	54567	HP:0000006	Autosomal dominant inheritance
OMIM:100300	DLL4	54567	HP:0001263	Global developmental delay
OMIM:100300	DLL4	54567	HP:0002558	Supernumerary nipple
OMIM:100300	DLL4	54567	HP:0002126	Polymicrogyria
OMIM:100300	DLL4	54567	HP:0002539	Cortical dysplasia
OMIM:100300	DLL4	54567	HP:0001252	Muscular hypotonia
OMIM:100300	DLL4	54567	HP:0001770	Toe syndactyly
OMIM:100300	DLL4	54567	HP:0001156	Brachydactyly syndrome
OMIM:100300	DLL4	54567	HP:0000175	Cleft palate
OMIM:100300	DLL4	54567	HP:0001642	Pulmonic stenosis
OMIM:100300	DLL4	54567	HP:0004415	Pulmonary artery stenosis
OMIM:100300	DLL4	54567	HP:0000252	Microcephaly
OMIM:100300	DLL4	54567	HP:0001792	Small nail
OMIM:100300	DLL4	54567	HP:0000565	Esotropia
OMIM:100300	DLL4	54567	HP:0001762	Talipes equinovarus
OMIM:100300	DLL4	54567	HP:0002079	Hypoplasia of the corpus callosum
OMIM:100300	DLL4	54567	HP:0001249	Intellectual disability
OMIM:100300	DLL4	54567	HP:0001302	Pachygyria
OMIM:100300	DLL4	54567	HP:0000204	Cleft upper lip
OMIM:100300	DLL4	54567	HP:0001636	Tetralogy of Fallot
OMIM:100300	DLL4	54567	HP:0000965	Cutis marmorata
OMIM:100300	DLL4	54567	HP:0001629	Ventricular septal defect
OMIM:100300	DLL4	54567	HP:0001596	Alopecia
OMIM:100300	DLL4	54567	HP:0002084	Encephalocele
OMIM:100300	DLL4	54567	HP:0003812	Phenotypic variability
OMIM:100300	DLL4	54567	HP:0000007	Autosomal recessive inheritance
OMIM:100300	DLL4	54567	HP:0001547	Abnormality of the rib cage
OMIM:100300	DLL4	54567	HP:0000119	Abnormality of the genitourinary system
OMIM:100300	ARHGAP31	57514	HP:0001250	Seizures
OMIM:100300	ARHGAP31	57514	HP:0001631	Atria septal defect
OMIM:100300	ARHGAP31	57514	HP:0000568	Microphthalmia
OMIM:100300	ARHGAP31	57514	HP:0002119	Ventriculomegaly
OMIM:100300	ARHGAP31	57514	HP:0000006	Autosomal dominant inheritance
OMIM:100300	ARHGAP31	57514	HP:0001263	Global developmental delay
OMIM:100300	ARHGAP31	57514	HP:0002558	Supernumerary nipple
OMIM:100300	ARHGAP31	57514	HP:0002126	Polymicrogyria
OMIM:100300	ARHGAP31	57514	HP:0002539	Cortical dysplasia
OMIM:100300	ARHGAP31	57514	HP:0001252	Muscular hypotonia
OMIM:100300	ARHGAP31	57514	HP:0001770	Toe syndactyly
OMIM:100300	ARHGAP31	57514	HP:0001156	Brachydactyly syndrome
OMIM:100300	ARHGAP31	57514	HP:0000175	Cleft palate
OMIM:100300	ARHGAP31	57514	HP:0001642	Pulmonic stenosis
OMIM:100300	ARHGAP31	57514	HP:0004415	Pulmonary artery stenosis
OMIM:100300	ARHGAP31	57514	HP:0000252	Microcephaly
OMIM:100300	ARHGAP31	57514	HP:0001792	Small nail
OMIM:100300	ARHGAP31	57514	HP:0000565	Esotropia
OMIM:100300	ARHGAP31	57514	HP:0001762	Talipes equinovarus
OMIM:100300	ARHGAP31	57514	HP:0002079	Hypoplasia of the corpus callosum
OMIM:100300	ARHGAP31	57514	HP:0001249	Intellectual disability
OMIM:100300	ARHGAP31	57514	HP:0001302	Pachygyria
OMIM:100300	ARHGAP31	57514	HP:0000204	Cleft upper lip
OMIM:100300	ARHGAP31	57514	HP:0001636	Tetralogy of Fallot
OMIM:100300	ARHGAP31	57514	HP:0000965	Cutis marmorata
OMIM:100300	ARHGAP31	57514	HP:0001629	Ventricular septal defect
OMIM:100300	ARHGAP31	57514	HP:0001596	Alopecia
OMIM:100300	ARHGAP31	57514	HP:0002084	Encephalocele
OMIM:100300	ARHGAP31	57514	HP:0003812	Phenotypic variability
OMIM:100300	ARHGAP31	57514	HP:0000007	Autosomal recessive inheritance
OMIM:100300	ARHGAP31	57514	HP:0001547	Abnormality of the rib cage
OMIM:100300	ARHGAP31	57514	HP:0000119	Abnormality of the genitourinary system
OMIM:100300	RBPJ	3516	HP:0001250	Seizures
OMIM:100300	RBPJ	3516	HP:0001631	Atria septal defect
OMIM:100300	RBPJ	3516	HP:0000568	Microphthalmia
OMIM:100300	RBPJ	3516	HP:0002119	Ventriculomegaly
OMIM:100300	RBPJ	3516	HP:0000006	Autosomal dominant inheritance
OMIM:100300	RBPJ	3516	HP:0001263	Global developmental delay
OMIM:100300	RBPJ	3516	HP:0002558	Supernumerary nipple
OMIM:100300	RBPJ	3516	HP:0002126	Polymicrogyria
OMIM:100300	RBPJ	3516	HP:0002539	Cortical dysplasia
OMIM:100300	RBPJ	3516	HP:0001252	Muscular hypotonia
OMIM:100300	RBPJ	3516	HP:0001770	Toe syndactyly
OMIM:100300	RBPJ	3516	HP:0001156	Brachydactyly syndrome
OMIM:100300	RBPJ	3516	HP:0000175	Cleft palate
OMIM:100300	RBPJ	3516	HP:0001642	Pulmonic stenosis
OMIM:100300	RBPJ	3516	HP:0004415	Pulmonary artery stenosis
OMIM:100300	RBPJ	3516	HP:0000252	Microcephaly
OMIM:100300	RBPJ	3516	HP:0001792	Small nail
OMIM:100300	RBPJ	3516	HP:0000565	Esotropia
OMIM:100300	RBPJ	3516	HP:0001762	Talipes equinovarus
OMIM:100300	RBPJ	3516	HP:0002079	Hypoplasia of the corpus callosum
OMIM:100300	RBPJ	3516	HP:0001249	Intellectual disability
OMIM:100300	RBPJ	3516	HP:0001302	Pachygyria
OMIM:100300	RBPJ	3516	HP:0000204	Cleft upper lip
OMIM:100300	RBPJ	3516	HP:0001636	Tetralogy of Fallot
OMIM:100300	RBPJ	3516	HP:0000965	Cutis marmorata
OMIM:100300	RBPJ	3516	HP:0001629	Ventricular septal defect
OMIM:100300	RBPJ	3516	HP:0001596	Alopecia
OMIM:100300	RBPJ	3516	HP:0002084	Encephalocele
OMIM:100300	RBPJ	3516	HP:0003812	Phenotypic variability
OMIM:100300	RBPJ	3516	HP:0000007	Autosomal recessive inheritance
OMIM:100300	RBPJ	3516	HP:0001547	Abnormality of the rib cage
OMIM:100300	RBPJ	3516	HP:0000119	Abnormality of the genitourinary system
OMIM:608471	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:608471	TGFBI	7045	HP:0001149	Lattice corneal dystrophy
OMIM:608471	TGFBI	7045	HP:0007663	Reduced visual acuity
OMIM:608471	TGFBI	7045	HP:0000505	Visual impairment
OMIM:614941	EDAR	10913	HP:0000970	Anhidrosis
OMIM:614941	EDAR	10913	HP:0000968	Ectodermal dysplasia
OMIM:614941	EDAR	10913	HP:0000232	Everted lower lip vermilion
OMIM:614941	EDAR	10913	HP:0006483	Abnormal number of teeth
OMIM:614941	EDAR	10913	HP:0000958	Dry skin
OMIM:614941	EDAR	10913	HP:0000290	Abnormality of the forehead
OMIM:614941	EDAR	10913	HP:0000366	Abnormality of the nose
OMIM:614941	EDAR	10913	HP:0008070	Sparse hair
OMIM:614941	EDARADD	128178	HP:0000970	Anhidrosis
OMIM:614941	EDARADD	128178	HP:0000968	Ectodermal dysplasia
OMIM:614941	EDARADD	128178	HP:0000232	Everted lower lip vermilion
OMIM:614941	EDARADD	128178	HP:0006483	Abnormal number of teeth
OMIM:614941	EDARADD	128178	HP:0000958	Dry skin
OMIM:614941	EDARADD	128178	HP:0000290	Abnormality of the forehead
OMIM:614941	EDARADD	128178	HP:0000366	Abnormality of the nose
OMIM:614941	EDARADD	128178	HP:0008070	Sparse hair
OMIM:614941	WNT10A	80326	HP:0000970	Anhidrosis
OMIM:614941	WNT10A	80326	HP:0000968	Ectodermal dysplasia
OMIM:614941	WNT10A	80326	HP:0000232	Everted lower lip vermilion
OMIM:614941	WNT10A	80326	HP:0006483	Abnormal number of teeth
OMIM:614941	WNT10A	80326	HP:0000958	Dry skin
OMIM:614941	WNT10A	80326	HP:0000290	Abnormality of the forehead
OMIM:614941	WNT10A	80326	HP:0000366	Abnormality of the nose
OMIM:614941	WNT10A	80326	HP:0008070	Sparse hair
OMIM:614266	ASCC1	51008	HP:0001824	Weight loss
OMIM:614266	ASCC1	51008	HP:0002017	Nausea and vomiting
OMIM:614266	ASCC1	51008	HP:0100749	Chest pain
OMIM:614266	ASCC1	51008	HP:0001428	Somatic mutation
OMIM:614266	ASCC1	51008	HP:0002716	Lymphadenopathy
OMIM:614266	ASCC1	51008	HP:0001513	Obesity
OMIM:614266	ASCC1	51008	HP:0008872	Feeding difficulties in infancy
OMIM:614266	MSR1	4481	HP:0001824	Weight loss
OMIM:614266	MSR1	4481	HP:0002017	Nausea and vomiting
OMIM:614266	MSR1	4481	HP:0100749	Chest pain
OMIM:614266	MSR1	4481	HP:0001428	Somatic mutation
OMIM:614266	MSR1	4481	HP:0002716	Lymphadenopathy
OMIM:614266	MSR1	4481	HP:0001513	Obesity
OMIM:614266	MSR1	4481	HP:0008872	Feeding difficulties in infancy
OMIM:614266	CTHRC1	115908	HP:0001824	Weight loss
OMIM:614266	CTHRC1	115908	HP:0002017	Nausea and vomiting
OMIM:614266	CTHRC1	115908	HP:0100749	Chest pain
OMIM:614266	CTHRC1	115908	HP:0001428	Somatic mutation
OMIM:614266	CTHRC1	115908	HP:0002716	Lymphadenopathy
OMIM:614266	CTHRC1	115908	HP:0001513	Obesity
OMIM:614266	CTHRC1	115908	HP:0008872	Feeding difficulties in infancy
OMIM:610651	ERCC3	2071	HP:0001272	Cerebellar atrophy
OMIM:610651	ERCC3	2071	HP:0000762	Decreased nerve conduction velocity
OMIM:610651	ERCC3	2071	HP:0000568	Microphthalmia
OMIM:610651	ERCC3	2071	HP:0000580	Pigmentary retinopathy
OMIM:610651	ERCC3	2071	HP:0000252	Microcephaly
OMIM:610651	ERCC3	2071	HP:0000007	Autosomal recessive inheritance
OMIM:610651	ERCC3	2071	HP:0000407	Sensorineural hearing impairment
OMIM:610651	ERCC3	2071	HP:0002135	Basal ganglia calcification
OMIM:610651	ERCC3	2071	HP:0012056	Cutaneous melanoma
OMIM:610651	ERCC3	2071	HP:0001249	Intellectual disability
OMIM:610651	ERCC3	2071	HP:0002119	Ventriculomegaly
OMIM:610651	ERCC3	2071	HP:0000648	Optic atrophy
OMIM:610651	ERCC3	2071	HP:0001347	Hyperreflexia
OMIM:610651	ERCC3	2071	HP:0004334	Dermal atrophy
OMIM:610651	ERCC3	2071	HP:0000518	Cataract
OMIM:610651	ERCC3	2071	HP:0001251	Ataxia
OMIM:610651	ERCC3	2071	HP:0004322	Short stature
OMIM:610651	ERCC3	2071	HP:0000992	Cutaneous photosensitivity
OMIM:610651	ERCC3	2071	HP:0005328	Progeroid facial appearance
OMIM:610651	ERCC3	2071	HP:0000135	Hypogonadism
OMIM:610651	ERCC3	2071	HP:0001480	Freckling
OMIM:610651	ERCC3	2071	HP:0011400	Abnormal CNS myelination
OMIM:611147	PNKD	25953	HP:0001250	Seizures
OMIM:611147	PNKD	25953	HP:0000006	Autosomal dominant inheritance
OMIM:611147	PNKD	25953	HP:0003829	Incomplete penetrance
OMIM:611147	PNKD	25953	HP:0002076	Migraine
OMIM:611147	PRRT2	112476	HP:0001250	Seizures
OMIM:611147	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:611147	PRRT2	112476	HP:0003829	Incomplete penetrance
OMIM:611147	PRRT2	112476	HP:0002076	Migraine
OMIM:601552	ASPH	444	HP:0000445	Wide nose
OMIM:601552	ASPH	444	HP:0003683	Large beaked nose
OMIM:601552	ASPH	444	HP:0000007	Autosomal recessive inheritance
OMIM:601552	ASPH	444	HP:0000278	Retrognathia
OMIM:601552	ASPH	444	HP:0000448	Prominent nose
OMIM:601552	ASPH	444	HP:0000494	Downslanted palpebral fissures
OMIM:601552	ASPH	444	HP:0000689	Dental malocclusion
OMIM:601552	ASPH	444	HP:0001999	Abnormal facial shape
OMIM:601552	ASPH	444	HP:0001083	Ectopia lentis
OMIM:601552	ASPH	444	HP:0000444	Convex nasal ridge
OMIM:186400	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:186400	NOG	9241	HP:0010049	Short metacarpal
OMIM:186400	NOG	9241	HP:0000430	Underdeveloped nasal alae
OMIM:186400	NOG	9241	HP:0001798	Anonychia
OMIM:186400	NOG	9241	HP:0008368	Tarsal synostosis
OMIM:186400	NOG	9241	HP:0003048	Radial head subluxation
OMIM:186400	NOG	9241	HP:0009702	Carpal synostosis
OMIM:186400	NOG	9241	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:615451	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:615451	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:615451	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:615451	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:615451	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:615451	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:615451	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:615451	CCNO	10309	HP:0000246	Sinusitis
OMIM:615451	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:615451	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:615451	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:615451	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:615451	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:615451	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:615451	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:615451	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:615451	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:615451	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:615451	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:615451	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:615451	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:615451	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:615451	DNAI1	27019	HP:0000246	Sinusitis
OMIM:615451	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:615451	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:615451	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:615451	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:615451	DRC1	92749	HP:0000246	Sinusitis
OMIM:615451	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:615451	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:615451	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:615451	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:615451	SPAG1	6674	HP:0000246	Sinusitis
OMIM:615451	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:615451	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:615451	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:615451	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:615451	RSPH3	83861	HP:0000246	Sinusitis
OMIM:615451	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:615451	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:615451	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:615451	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615451	RPGR	6103	HP:0000246	Sinusitis
OMIM:615451	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:615451	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:615451	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:615451	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:615451	LRRC6	23639	HP:0000246	Sinusitis
OMIM:615451	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:615451	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:615451	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:615451	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:615451	DNAL1	83544	HP:0000246	Sinusitis
OMIM:615451	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:615451	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:615451	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:615451	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:615451	ARMC4	55130	HP:0000246	Sinusitis
OMIM:615451	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:615451	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:615451	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:615451	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:615451	CCDC103	388389	HP:0000246	Sinusitis
OMIM:615451	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:615451	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:615451	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:615451	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615451	OFD1	8481	HP:0000246	Sinusitis
OMIM:615451	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:615451	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:615451	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:615451	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:615451	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:615451	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:615451	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:615451	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:615451	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:615451	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:615451	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:615451	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:615451	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:615451	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:615451	RSPH1	89765	HP:0000246	Sinusitis
OMIM:615451	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:615451	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:615451	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:615451	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:615451	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:615451	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:615451	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:615451	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:615451	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:615451	DNAH5	1767	HP:0000246	Sinusitis
OMIM:615451	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:615451	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:615451	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:615451	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:615451	CCDC65	85478	HP:0000246	Sinusitis
OMIM:615451	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:615451	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:615451	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:615451	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:615451	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:615451	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:615451	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:615451	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:615451	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:615451	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:615451	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:615451	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:615451	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:615451	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:615451	CCDC151	115948	HP:0000246	Sinusitis
OMIM:615451	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:615451	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:615451	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:615451	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:615451	RSPH9	221421	HP:0000246	Sinusitis
OMIM:615451	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:615451	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:615451	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:615451	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:615451	CCDC39	339829	HP:0000246	Sinusitis
OMIM:615451	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:615451	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:615451	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:615451	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:615451	HYDIN	54768	HP:0000246	Sinusitis
OMIM:615451	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:615451	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:615451	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:615451	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:615451	CCDC114	93233	HP:0000246	Sinusitis
OMIM:615451	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:615451	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:615451	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:615451	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:615451	NME8	51314	HP:0000246	Sinusitis
OMIM:615451	NME8	51314	HP:0002110	Bronchiectasis
OMIM:615451	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:615451	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:615451	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:615451	CCDC40	55036	HP:0000246	Sinusitis
OMIM:615451	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:615451	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:615451	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:615451	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:615451	DNAH11	8701	HP:0000246	Sinusitis
OMIM:615451	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:615451	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:615451	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:615451	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:615451	DNAI2	64446	HP:0000246	Sinusitis
OMIM:615451	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:615451	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:615451	GAS8	2622	HP:0000403	Recurrent otitis media
OMIM:615451	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:615451	GAS8	2622	HP:0000246	Sinusitis
OMIM:615451	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:615451	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:611553	RIT1	6016	HP:0000465	Webbed neck
OMIM:611553	RIT1	6016	HP:0000470	Short neck
OMIM:611553	RIT1	6016	HP:0001263	Global developmental delay
OMIM:611553	RIT1	6016	HP:0000006	Autosomal dominant inheritance
OMIM:611553	RIT1	6016	HP:0001631	Atria septal defect
OMIM:611553	RIT1	6016	HP:0001999	Abnormal facial shape
OMIM:611553	RIT1	6016	HP:0000766	Abnormality of the sternum
OMIM:611553	RIT1	6016	HP:0004322	Short stature
OMIM:611553	RIT1	6016	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611553	BRAF	673	HP:0000465	Webbed neck
OMIM:611553	BRAF	673	HP:0000470	Short neck
OMIM:611553	BRAF	673	HP:0001263	Global developmental delay
OMIM:611553	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:611553	BRAF	673	HP:0001631	Atria septal defect
OMIM:611553	BRAF	673	HP:0001999	Abnormal facial shape
OMIM:611553	BRAF	673	HP:0000766	Abnormality of the sternum
OMIM:611553	BRAF	673	HP:0004322	Short stature
OMIM:611553	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611553	KAT6B	23522	HP:0000465	Webbed neck
OMIM:611553	KAT6B	23522	HP:0000470	Short neck
OMIM:611553	KAT6B	23522	HP:0001263	Global developmental delay
OMIM:611553	KAT6B	23522	HP:0000006	Autosomal dominant inheritance
OMIM:611553	KAT6B	23522	HP:0001631	Atria septal defect
OMIM:611553	KAT6B	23522	HP:0001999	Abnormal facial shape
OMIM:611553	KAT6B	23522	HP:0000766	Abnormality of the sternum
OMIM:611553	KAT6B	23522	HP:0004322	Short stature
OMIM:611553	KAT6B	23522	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611553	RASA2	5922	HP:0000465	Webbed neck
OMIM:611553	RASA2	5922	HP:0000470	Short neck
OMIM:611553	RASA2	5922	HP:0001263	Global developmental delay
OMIM:611553	RASA2	5922	HP:0000006	Autosomal dominant inheritance
OMIM:611553	RASA2	5922	HP:0001631	Atria septal defect
OMIM:611553	RASA2	5922	HP:0001999	Abnormal facial shape
OMIM:611553	RASA2	5922	HP:0000766	Abnormality of the sternum
OMIM:611553	RASA2	5922	HP:0004322	Short stature
OMIM:611553	RASA2	5922	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611553	PTPN11	5781	HP:0000465	Webbed neck
OMIM:611553	PTPN11	5781	HP:0000470	Short neck
OMIM:611553	PTPN11	5781	HP:0001263	Global developmental delay
OMIM:611553	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:611553	PTPN11	5781	HP:0001631	Atria septal defect
OMIM:611553	PTPN11	5781	HP:0001999	Abnormal facial shape
OMIM:611553	PTPN11	5781	HP:0000766	Abnormality of the sternum
OMIM:611553	PTPN11	5781	HP:0004322	Short stature
OMIM:611553	PTPN11	5781	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611553	KRAS	3845	HP:0000465	Webbed neck
OMIM:611553	KRAS	3845	HP:0000470	Short neck
OMIM:611553	KRAS	3845	HP:0001263	Global developmental delay
OMIM:611553	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:611553	KRAS	3845	HP:0001631	Atria septal defect
OMIM:611553	KRAS	3845	HP:0001999	Abnormal facial shape
OMIM:611553	KRAS	3845	HP:0000766	Abnormality of the sternum
OMIM:611553	KRAS	3845	HP:0004322	Short stature
OMIM:611553	KRAS	3845	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611553	RAF1	5894	HP:0000465	Webbed neck
OMIM:611553	RAF1	5894	HP:0000470	Short neck
OMIM:611553	RAF1	5894	HP:0001263	Global developmental delay
OMIM:611553	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:611553	RAF1	5894	HP:0001631	Atria septal defect
OMIM:611553	RAF1	5894	HP:0001999	Abnormal facial shape
OMIM:611553	RAF1	5894	HP:0000766	Abnormality of the sternum
OMIM:611553	RAF1	5894	HP:0004322	Short stature
OMIM:611553	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611553	LZTR1	8216	HP:0000465	Webbed neck
OMIM:611553	LZTR1	8216	HP:0000470	Short neck
OMIM:611553	LZTR1	8216	HP:0001263	Global developmental delay
OMIM:611553	LZTR1	8216	HP:0000006	Autosomal dominant inheritance
OMIM:611553	LZTR1	8216	HP:0001631	Atria septal defect
OMIM:611553	LZTR1	8216	HP:0001999	Abnormal facial shape
OMIM:611553	LZTR1	8216	HP:0000766	Abnormality of the sternum
OMIM:611553	LZTR1	8216	HP:0004322	Short stature
OMIM:611553	LZTR1	8216	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611553	A2ML1	144568	HP:0000465	Webbed neck
OMIM:611553	A2ML1	144568	HP:0000470	Short neck
OMIM:611553	A2ML1	144568	HP:0001263	Global developmental delay
OMIM:611553	A2ML1	144568	HP:0000006	Autosomal dominant inheritance
OMIM:611553	A2ML1	144568	HP:0001631	Atria septal defect
OMIM:611553	A2ML1	144568	HP:0001999	Abnormal facial shape
OMIM:611553	A2ML1	144568	HP:0000766	Abnormality of the sternum
OMIM:611553	A2ML1	144568	HP:0004322	Short stature
OMIM:611553	A2ML1	144568	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611553	NRAS	4893	HP:0000465	Webbed neck
OMIM:611553	NRAS	4893	HP:0000470	Short neck
OMIM:611553	NRAS	4893	HP:0001263	Global developmental delay
OMIM:611553	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:611553	NRAS	4893	HP:0001631	Atria septal defect
OMIM:611553	NRAS	4893	HP:0001999	Abnormal facial shape
OMIM:611553	NRAS	4893	HP:0000766	Abnormality of the sternum
OMIM:611553	NRAS	4893	HP:0004322	Short stature
OMIM:611553	NRAS	4893	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611553	SOS1	6654	HP:0000465	Webbed neck
OMIM:611553	SOS1	6654	HP:0000470	Short neck
OMIM:611553	SOS1	6654	HP:0001263	Global developmental delay
OMIM:611553	SOS1	6654	HP:0000006	Autosomal dominant inheritance
OMIM:611553	SOS1	6654	HP:0001631	Atria septal defect
OMIM:611553	SOS1	6654	HP:0001999	Abnormal facial shape
OMIM:611553	SOS1	6654	HP:0000766	Abnormality of the sternum
OMIM:611553	SOS1	6654	HP:0004322	Short stature
OMIM:611553	SOS1	6654	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611553	SOS2	6655	HP:0000465	Webbed neck
OMIM:611553	SOS2	6655	HP:0000470	Short neck
OMIM:611553	SOS2	6655	HP:0001263	Global developmental delay
OMIM:611553	SOS2	6655	HP:0000006	Autosomal dominant inheritance
OMIM:611553	SOS2	6655	HP:0001631	Atria septal defect
OMIM:611553	SOS2	6655	HP:0001999	Abnormal facial shape
OMIM:611553	SOS2	6655	HP:0000766	Abnormality of the sternum
OMIM:611553	SOS2	6655	HP:0004322	Short stature
OMIM:611553	SOS2	6655	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615994	MKKS	8195	HP:0001696	Situs inversus totalis
OMIM:615994	MKKS	8195	HP:0001263	Global developmental delay
OMIM:615994	MKKS	8195	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	MKKS	8195	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	MKKS	8195	HP:0000135	Hypogonadism
OMIM:615994	MKKS	8195	HP:0001156	Brachydactyly syndrome
OMIM:615994	MKKS	8195	HP:0001513	Obesity
OMIM:615994	MKKS	8195	HP:0003241	External genital hypoplasia
OMIM:615994	MKKS	8195	HP:0000107	Renal cyst
OMIM:615994	MKKS	8195	HP:0100543	Cognitive impairment
OMIM:615994	MKKS	8195	HP:0000546	Retinal degeneration
OMIM:615994	NPHP1	4867	HP:0001696	Situs inversus totalis
OMIM:615994	NPHP1	4867	HP:0001263	Global developmental delay
OMIM:615994	NPHP1	4867	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	NPHP1	4867	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:615994	NPHP1	4867	HP:0001156	Brachydactyly syndrome
OMIM:615994	NPHP1	4867	HP:0001513	Obesity
OMIM:615994	NPHP1	4867	HP:0003241	External genital hypoplasia
OMIM:615994	NPHP1	4867	HP:0000107	Renal cyst
OMIM:615994	NPHP1	4867	HP:0100543	Cognitive impairment
OMIM:615994	NPHP1	4867	HP:0000546	Retinal degeneration
OMIM:615994	BBIP1	92482	HP:0001696	Situs inversus totalis
OMIM:615994	BBIP1	92482	HP:0001263	Global developmental delay
OMIM:615994	BBIP1	92482	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	BBIP1	92482	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	BBIP1	92482	HP:0000135	Hypogonadism
OMIM:615994	BBIP1	92482	HP:0001156	Brachydactyly syndrome
OMIM:615994	BBIP1	92482	HP:0001513	Obesity
OMIM:615994	BBIP1	92482	HP:0003241	External genital hypoplasia
OMIM:615994	BBIP1	92482	HP:0000107	Renal cyst
OMIM:615994	BBIP1	92482	HP:0100543	Cognitive impairment
OMIM:615994	BBIP1	92482	HP:0000546	Retinal degeneration
OMIM:615994	ARL6	84100	HP:0001696	Situs inversus totalis
OMIM:615994	ARL6	84100	HP:0001263	Global developmental delay
OMIM:615994	ARL6	84100	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	ARL6	84100	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	ARL6	84100	HP:0000135	Hypogonadism
OMIM:615994	ARL6	84100	HP:0001156	Brachydactyly syndrome
OMIM:615994	ARL6	84100	HP:0001513	Obesity
OMIM:615994	ARL6	84100	HP:0003241	External genital hypoplasia
OMIM:615994	ARL6	84100	HP:0000107	Renal cyst
OMIM:615994	ARL6	84100	HP:0100543	Cognitive impairment
OMIM:615994	ARL6	84100	HP:0000546	Retinal degeneration
OMIM:615994	BBS1	582	HP:0001696	Situs inversus totalis
OMIM:615994	BBS1	582	HP:0001263	Global developmental delay
OMIM:615994	BBS1	582	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	BBS1	582	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	BBS1	582	HP:0000135	Hypogonadism
OMIM:615994	BBS1	582	HP:0001156	Brachydactyly syndrome
OMIM:615994	BBS1	582	HP:0001513	Obesity
OMIM:615994	BBS1	582	HP:0003241	External genital hypoplasia
OMIM:615994	BBS1	582	HP:0000107	Renal cyst
OMIM:615994	BBS1	582	HP:0100543	Cognitive impairment
OMIM:615994	BBS1	582	HP:0000546	Retinal degeneration
OMIM:615994	BBS2	583	HP:0001696	Situs inversus totalis
OMIM:615994	BBS2	583	HP:0001263	Global developmental delay
OMIM:615994	BBS2	583	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	BBS2	583	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	BBS2	583	HP:0000135	Hypogonadism
OMIM:615994	BBS2	583	HP:0001156	Brachydactyly syndrome
OMIM:615994	BBS2	583	HP:0001513	Obesity
OMIM:615994	BBS2	583	HP:0003241	External genital hypoplasia
OMIM:615994	BBS2	583	HP:0000107	Renal cyst
OMIM:615994	BBS2	583	HP:0100543	Cognitive impairment
OMIM:615994	BBS2	583	HP:0000546	Retinal degeneration
OMIM:615994	BBS4	585	HP:0001696	Situs inversus totalis
OMIM:615994	BBS4	585	HP:0001263	Global developmental delay
OMIM:615994	BBS4	585	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	BBS4	585	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	BBS4	585	HP:0000135	Hypogonadism
OMIM:615994	BBS4	585	HP:0001156	Brachydactyly syndrome
OMIM:615994	BBS4	585	HP:0001513	Obesity
OMIM:615994	BBS4	585	HP:0003241	External genital hypoplasia
OMIM:615994	BBS4	585	HP:0000107	Renal cyst
OMIM:615994	BBS4	585	HP:0100543	Cognitive impairment
OMIM:615994	BBS4	585	HP:0000546	Retinal degeneration
OMIM:615994	BBS9	27241	HP:0001696	Situs inversus totalis
OMIM:615994	BBS9	27241	HP:0001263	Global developmental delay
OMIM:615994	BBS9	27241	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	BBS9	27241	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	BBS9	27241	HP:0000135	Hypogonadism
OMIM:615994	BBS9	27241	HP:0001156	Brachydactyly syndrome
OMIM:615994	BBS9	27241	HP:0001513	Obesity
OMIM:615994	BBS9	27241	HP:0003241	External genital hypoplasia
OMIM:615994	BBS9	27241	HP:0000107	Renal cyst
OMIM:615994	BBS9	27241	HP:0100543	Cognitive impairment
OMIM:615994	BBS9	27241	HP:0000546	Retinal degeneration
OMIM:615994	TTC8	123016	HP:0001696	Situs inversus totalis
OMIM:615994	TTC8	123016	HP:0001263	Global developmental delay
OMIM:615994	TTC8	123016	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	TTC8	123016	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	TTC8	123016	HP:0000135	Hypogonadism
OMIM:615994	TTC8	123016	HP:0001156	Brachydactyly syndrome
OMIM:615994	TTC8	123016	HP:0001513	Obesity
OMIM:615994	TTC8	123016	HP:0003241	External genital hypoplasia
OMIM:615994	TTC8	123016	HP:0000107	Renal cyst
OMIM:615994	TTC8	123016	HP:0100543	Cognitive impairment
OMIM:615994	TTC8	123016	HP:0000546	Retinal degeneration
OMIM:615994	BBS12	166379	HP:0001696	Situs inversus totalis
OMIM:615994	BBS12	166379	HP:0001263	Global developmental delay
OMIM:615994	BBS12	166379	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	BBS12	166379	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	BBS12	166379	HP:0000135	Hypogonadism
OMIM:615994	BBS12	166379	HP:0001156	Brachydactyly syndrome
OMIM:615994	BBS12	166379	HP:0001513	Obesity
OMIM:615994	BBS12	166379	HP:0003241	External genital hypoplasia
OMIM:615994	BBS12	166379	HP:0000107	Renal cyst
OMIM:615994	BBS12	166379	HP:0100543	Cognitive impairment
OMIM:615994	BBS12	166379	HP:0000546	Retinal degeneration
OMIM:615994	TRIM32	22954	HP:0001696	Situs inversus totalis
OMIM:615994	TRIM32	22954	HP:0001263	Global developmental delay
OMIM:615994	TRIM32	22954	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	TRIM32	22954	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:615994	TRIM32	22954	HP:0001156	Brachydactyly syndrome
OMIM:615994	TRIM32	22954	HP:0001513	Obesity
OMIM:615994	TRIM32	22954	HP:0003241	External genital hypoplasia
OMIM:615994	TRIM32	22954	HP:0000107	Renal cyst
OMIM:615994	TRIM32	22954	HP:0100543	Cognitive impairment
OMIM:615994	TRIM32	22954	HP:0000546	Retinal degeneration
OMIM:615994	BBS7	55212	HP:0001696	Situs inversus totalis
OMIM:615994	BBS7	55212	HP:0001263	Global developmental delay
OMIM:615994	BBS7	55212	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	BBS7	55212	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	BBS7	55212	HP:0000135	Hypogonadism
OMIM:615994	BBS7	55212	HP:0001156	Brachydactyly syndrome
OMIM:615994	BBS7	55212	HP:0001513	Obesity
OMIM:615994	BBS7	55212	HP:0003241	External genital hypoplasia
OMIM:615994	BBS7	55212	HP:0000107	Renal cyst
OMIM:615994	BBS7	55212	HP:0100543	Cognitive impairment
OMIM:615994	BBS7	55212	HP:0000546	Retinal degeneration
OMIM:615994	IFT27	11020	HP:0001696	Situs inversus totalis
OMIM:615994	IFT27	11020	HP:0001263	Global developmental delay
OMIM:615994	IFT27	11020	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	IFT27	11020	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	IFT27	11020	HP:0000135	Hypogonadism
OMIM:615994	IFT27	11020	HP:0001156	Brachydactyly syndrome
OMIM:615994	IFT27	11020	HP:0001513	Obesity
OMIM:615994	IFT27	11020	HP:0003241	External genital hypoplasia
OMIM:615994	IFT27	11020	HP:0000107	Renal cyst
OMIM:615994	IFT27	11020	HP:0100543	Cognitive impairment
OMIM:615994	IFT27	11020	HP:0000546	Retinal degeneration
OMIM:615994	IFT172	26160	HP:0001696	Situs inversus totalis
OMIM:615994	IFT172	26160	HP:0001263	Global developmental delay
OMIM:615994	IFT172	26160	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	IFT172	26160	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	IFT172	26160	HP:0000135	Hypogonadism
OMIM:615994	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:615994	IFT172	26160	HP:0001513	Obesity
OMIM:615994	IFT172	26160	HP:0003241	External genital hypoplasia
OMIM:615994	IFT172	26160	HP:0000107	Renal cyst
OMIM:615994	IFT172	26160	HP:0100543	Cognitive impairment
OMIM:615994	IFT172	26160	HP:0000546	Retinal degeneration
OMIM:615994	WDPCP	51057	HP:0001696	Situs inversus totalis
OMIM:615994	WDPCP	51057	HP:0001263	Global developmental delay
OMIM:615994	WDPCP	51057	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	WDPCP	51057	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	WDPCP	51057	HP:0000135	Hypogonadism
OMIM:615994	WDPCP	51057	HP:0001156	Brachydactyly syndrome
OMIM:615994	WDPCP	51057	HP:0001513	Obesity
OMIM:615994	WDPCP	51057	HP:0003241	External genital hypoplasia
OMIM:615994	WDPCP	51057	HP:0000107	Renal cyst
OMIM:615994	WDPCP	51057	HP:0100543	Cognitive impairment
OMIM:615994	WDPCP	51057	HP:0000546	Retinal degeneration
OMIM:615994	SDCCAG8	10806	HP:0001696	Situs inversus totalis
OMIM:615994	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:615994	SDCCAG8	10806	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	SDCCAG8	10806	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:615994	SDCCAG8	10806	HP:0001156	Brachydactyly syndrome
OMIM:615994	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615994	SDCCAG8	10806	HP:0003241	External genital hypoplasia
OMIM:615994	SDCCAG8	10806	HP:0000107	Renal cyst
OMIM:615994	SDCCAG8	10806	HP:0100543	Cognitive impairment
OMIM:615994	SDCCAG8	10806	HP:0000546	Retinal degeneration
OMIM:615994	MKS1	54903	HP:0001696	Situs inversus totalis
OMIM:615994	MKS1	54903	HP:0001263	Global developmental delay
OMIM:615994	MKS1	54903	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	MKS1	54903	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	MKS1	54903	HP:0000135	Hypogonadism
OMIM:615994	MKS1	54903	HP:0001156	Brachydactyly syndrome
OMIM:615994	MKS1	54903	HP:0001513	Obesity
OMIM:615994	MKS1	54903	HP:0003241	External genital hypoplasia
OMIM:615994	MKS1	54903	HP:0000107	Renal cyst
OMIM:615994	MKS1	54903	HP:0100543	Cognitive impairment
OMIM:615994	MKS1	54903	HP:0000546	Retinal degeneration
OMIM:615994	LZTFL1	54585	HP:0001696	Situs inversus totalis
OMIM:615994	LZTFL1	54585	HP:0001263	Global developmental delay
OMIM:615994	LZTFL1	54585	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	LZTFL1	54585	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:615994	LZTFL1	54585	HP:0001156	Brachydactyly syndrome
OMIM:615994	LZTFL1	54585	HP:0001513	Obesity
OMIM:615994	LZTFL1	54585	HP:0003241	External genital hypoplasia
OMIM:615994	LZTFL1	54585	HP:0000107	Renal cyst
OMIM:615994	LZTFL1	54585	HP:0100543	Cognitive impairment
OMIM:615994	LZTFL1	54585	HP:0000546	Retinal degeneration
OMIM:615994	BBS5	129880	HP:0001696	Situs inversus totalis
OMIM:615994	BBS5	129880	HP:0001263	Global developmental delay
OMIM:615994	BBS5	129880	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	BBS5	129880	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	BBS5	129880	HP:0000135	Hypogonadism
OMIM:615994	BBS5	129880	HP:0001156	Brachydactyly syndrome
OMIM:615994	BBS5	129880	HP:0001513	Obesity
OMIM:615994	BBS5	129880	HP:0003241	External genital hypoplasia
OMIM:615994	BBS5	129880	HP:0000107	Renal cyst
OMIM:615994	BBS5	129880	HP:0100543	Cognitive impairment
OMIM:615994	BBS5	129880	HP:0000546	Retinal degeneration
OMIM:615994	CEP290	80184	HP:0001696	Situs inversus totalis
OMIM:615994	CEP290	80184	HP:0001263	Global developmental delay
OMIM:615994	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	CEP290	80184	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	CEP290	80184	HP:0000135	Hypogonadism
OMIM:615994	CEP290	80184	HP:0001156	Brachydactyly syndrome
OMIM:615994	CEP290	80184	HP:0001513	Obesity
OMIM:615994	CEP290	80184	HP:0003241	External genital hypoplasia
OMIM:615994	CEP290	80184	HP:0000107	Renal cyst
OMIM:615994	CEP290	80184	HP:0100543	Cognitive impairment
OMIM:615994	CEP290	80184	HP:0000546	Retinal degeneration
OMIM:615994	BBS10	79738	HP:0001696	Situs inversus totalis
OMIM:615994	BBS10	79738	HP:0001263	Global developmental delay
OMIM:615994	BBS10	79738	HP:0003774	Stage 5 chronic kidney disease
OMIM:615994	BBS10	79738	HP:0000548	Cone/cone-rod dystrophy
OMIM:615994	BBS10	79738	HP:0000135	Hypogonadism
OMIM:615994	BBS10	79738	HP:0001156	Brachydactyly syndrome
OMIM:615994	BBS10	79738	HP:0001513	Obesity
OMIM:615994	BBS10	79738	HP:0003241	External genital hypoplasia
OMIM:615994	BBS10	79738	HP:0000107	Renal cyst
OMIM:615994	BBS10	79738	HP:0100543	Cognitive impairment
OMIM:615994	BBS10	79738	HP:0000546	Retinal degeneration
OMIM:182600	ATL1	51062	HP:0001258	Spastic paraplegia
OMIM:182600	ATL1	51062	HP:0000020	Urinary incontinence
OMIM:182600	ATL1	51062	HP:0002064	Spastic gait
OMIM:182600	ATL1	51062	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:182600	ATL1	51062	HP:0001270	Motor delay
OMIM:182600	ATL1	51062	HP:0001256	Intellectual disability, mild
OMIM:182600	ATL1	51062	HP:0001761	Pes cavus
OMIM:182600	ATL1	51062	HP:0003829	Incomplete penetrance
OMIM:182600	ATL1	51062	HP:0001347	Hyperreflexia
OMIM:182600	ATL1	51062	HP:0003828	Variable expressivity
OMIM:182600	ATL1	51062	HP:0002650	Scoliosis
OMIM:182600	ATL1	51062	HP:0001425	Heterogeneous
OMIM:182600	ATL1	51062	HP:0008944	Distal lower limb amyotrophy
OMIM:182600	ATL1	51062	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:182600	ATL1	51062	HP:0000012	Urinary urgency
OMIM:182600	ATL1	51062	HP:0000006	Autosomal dominant inheritance
OMIM:182600	ATL1	51062	HP:0007340	Lower limb muscle weakness
OMIM:182600	ATL1	51062	HP:0002079	Hypoplasia of the corpus callosum
OMIM:182600	ATL1	51062	HP:0010550	Paraplegia
OMIM:182600	ATL1	51062	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:182600	ATL1	51062	HP:0003487	Babinski sign
OMIM:145410	SPECC1L	23384	HP:0001631	Atria septal defect
OMIM:145410	SPECC1L	23384	HP:0000347	Micrognathia
OMIM:145410	SPECC1L	23384	HP:0002089	Pulmonary hypoplasia
OMIM:145410	SPECC1L	23384	HP:0000358	Posteriorly rotated ears
OMIM:145410	SPECC1L	23384	HP:0001274	Agenesis of corpus callosum
OMIM:145410	SPECC1L	23384	HP:0000175	Cleft palate
OMIM:145410	SPECC1L	23384	HP:0002015	Dysphagia
OMIM:145410	SPECC1L	23384	HP:0002007	Frontal bossing
OMIM:145410	SPECC1L	23384	HP:0000023	Inguinal hernia
OMIM:145410	SPECC1L	23384	HP:0001249	Intellectual disability
OMIM:145410	SPECC1L	23384	HP:0002025	Anal stenosis
OMIM:145410	SPECC1L	23384	HP:0000486	Strabismus
OMIM:145410	SPECC1L	23384	HP:0001643	Patent ductus arteriosus
OMIM:145410	SPECC1L	23384	HP:0001252	Muscular hypotonia
OMIM:145410	SPECC1L	23384	HP:0000048	Bifid scrotum
OMIM:145410	SPECC1L	23384	HP:0000431	Wide nasal bridge
OMIM:145410	SPECC1L	23384	HP:0000319	Smooth philtrum
OMIM:145410	SPECC1L	23384	HP:0001363	Craniosynostosis
OMIM:145410	SPECC1L	23384	HP:0000219	Thin upper lip vermilion
OMIM:145410	SPECC1L	23384	HP:0002023	Anal atresia
OMIM:145410	SPECC1L	23384	HP:0001263	Global developmental delay
OMIM:145410	SPECC1L	23384	HP:0002575	Tracheoesophageal fistula
OMIM:145410	SPECC1L	23384	HP:0000218	High palate
OMIM:145410	SPECC1L	23384	HP:0000316	Hypertelorism
OMIM:145410	SPECC1L	23384	HP:0000028	Cryptorchidism
OMIM:145410	SPECC1L	23384	HP:0000506	Telecanthus
OMIM:145410	SPECC1L	23384	HP:0000047	Hypospadias
OMIM:145410	SPECC1L	23384	HP:0001629	Ventricular septal defect
OMIM:145410	SPECC1L	23384	HP:0001537	Umbilical hernia
OMIM:145410	SPECC1L	23384	HP:0000069	Abnormality of the ureter
OMIM:145410	SPECC1L	23384	HP:0001320	Cerebellar vermis hypoplasia
OMIM:145410	SPECC1L	23384	HP:0002120	Cerebral cortical atrophy
OMIM:145410	SPECC1L	23384	HP:0001680	Coarctation of aorta
OMIM:145410	SPECC1L	23384	HP:0000193	Bifid uvula
OMIM:145410	SPECC1L	23384	HP:0000077	Abnormality of the kidney
OMIM:145410	SPECC1L	23384	HP:0000286	Epicanthus
OMIM:145410	SPECC1L	23384	HP:0005280	Depressed nasal bridge
OMIM:145410	SPECC1L	23384	HP:0000006	Autosomal dominant inheritance
OMIM:145410	SPECC1L	23384	HP:0000204	Cleft upper lip
OMIM:145410	SPECC1L	23384	HP:0011220	Prominent forehead
OMIM:145410	SPECC1L	23384	HP:0002119	Ventriculomegaly
OMIM:145410	SPECC1L	23384	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
OMIM:145410	SPECC1L	23384	HP:0000494	Downslanted palpebral fissures
OMIM:145410	SPECC1L	23384	HP:0000405	Conductive hearing impairment
OMIM:193900	KRT13	3860	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:193900	KRT13	3860	HP:0000006	Autosomal dominant inheritance
OMIM:193900	KRT4	3851	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:193900	KRT4	3851	HP:0000006	Autosomal dominant inheritance
OMIM:616044	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:616044	DIAPH1	1729	HP:0001730	Progressive hearing impairment
OMIM:616044	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:616044	CEACAM16	388551	HP:0001730	Progressive hearing impairment
OMIM:616044	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:616044	SLC17A8	246213	HP:0001730	Progressive hearing impairment
OMIM:616044	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:616044	TJP2	9414	HP:0001730	Progressive hearing impairment
OMIM:616044	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:616044	ACTG1	71	HP:0001730	Progressive hearing impairment
OMIM:616044	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:616044	CCDC50	152137	HP:0001730	Progressive hearing impairment
OMIM:616044	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:616044	MIR96	407053	HP:0001730	Progressive hearing impairment
OMIM:616044	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:616044	GJB2	2706	HP:0001730	Progressive hearing impairment
OMIM:616044	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:616044	POU4F3	5459	HP:0001730	Progressive hearing impairment
OMIM:616044	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:616044	GJB3	2707	HP:0001730	Progressive hearing impairment
OMIM:616044	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:616044	MYH9	4627	HP:0001730	Progressive hearing impairment
OMIM:616044	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:616044	CRYM	1428	HP:0001730	Progressive hearing impairment
OMIM:616044	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:616044	COL11A2	1302	HP:0001730	Progressive hearing impairment
OMIM:616044	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:616044	EYA4	2070	HP:0001730	Progressive hearing impairment
OMIM:616044	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:616044	DFNA5	1687	HP:0001730	Progressive hearing impairment
OMIM:616044	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:616044	DIAPH3	81624	HP:0001730	Progressive hearing impairment
OMIM:616044	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:616044	TMC1	117531	HP:0001730	Progressive hearing impairment
OMIM:616044	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:616044	COCH	1690	HP:0001730	Progressive hearing impairment
OMIM:616044	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:616044	OSBPL2	9885	HP:0001730	Progressive hearing impairment
OMIM:616044	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:616044	SIX1	6495	HP:0001730	Progressive hearing impairment
OMIM:616044	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:616044	TECTA	7007	HP:0001730	Progressive hearing impairment
OMIM:616044	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:616044	MYO1A	4640	HP:0001730	Progressive hearing impairment
OMIM:616044	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:616044	MYO1C	4641	HP:0001730	Progressive hearing impairment
OMIM:616044	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:616044	MYO6	4646	HP:0001730	Progressive hearing impairment
OMIM:616044	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:616044	MYO7A	4647	HP:0001730	Progressive hearing impairment
OMIM:616044	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:616044	GRHL2	79977	HP:0001730	Progressive hearing impairment
OMIM:616044	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:616044	DIABLO	56616	HP:0001730	Progressive hearing impairment
OMIM:616044	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:616044	MYH14	79784	HP:0001730	Progressive hearing impairment
OMIM:616044	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:616044	P2RX2	22953	HP:0001730	Progressive hearing impairment
OMIM:616044	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:616044	WFS1	7466	HP:0001730	Progressive hearing impairment
OMIM:616044	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:616044	TNC	3371	HP:0001730	Progressive hearing impairment
OMIM:616044	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:616044	KCNQ4	9132	HP:0001730	Progressive hearing impairment
OMIM:616044	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:616044	HOMER2	9455	HP:0001730	Progressive hearing impairment
OMIM:616044	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:616044	GJB6	10804	HP:0001730	Progressive hearing impairment
OMIM:616044	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:616044	TBC1D24	57465	HP:0001730	Progressive hearing impairment
OMIM:613756	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613756	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613756	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613756	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613756	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613756	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613756	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613756	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613756	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613756	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613756	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613756	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613756	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613756	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613756	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613756	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613756	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613756	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613756	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613756	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613756	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613756	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613756	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613756	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613756	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613756	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613756	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613756	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613756	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613756	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613756	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613756	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613756	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613756	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613756	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613756	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613756	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613756	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613756	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613756	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613756	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613756	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613756	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613756	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613756	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613756	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613756	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613756	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613756	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613756	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613756	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613756	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613756	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613756	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613756	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613756	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613756	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613756	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613756	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613756	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613756	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613756	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613756	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613756	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613756	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613756	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613756	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613756	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613756	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613756	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613756	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613756	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613756	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613756	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613756	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613756	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613756	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613756	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613756	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613756	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613756	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613756	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613756	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613756	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613756	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613756	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613756	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613756	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613756	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613756	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613756	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613756	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613756	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613756	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613756	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613756	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613756	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613756	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613756	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613756	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613756	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613756	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613756	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613756	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613756	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613756	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613756	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613756	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613756	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613756	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613756	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613756	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613756	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613756	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613756	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613756	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613756	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613756	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613756	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613756	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613756	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613756	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613756	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613756	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613756	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613756	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613756	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613756	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613756	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613756	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613756	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613756	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613756	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613756	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613756	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613756	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613756	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613756	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613647	AP5Z1	9907	HP:0000020	Urinary incontinence
OMIM:613647	AP5Z1	9907	HP:0000007	Autosomal recessive inheritance
OMIM:613647	AP5Z1	9907	HP:0003676	Progressive
OMIM:613647	AP5Z1	9907	HP:0002064	Spastic gait
OMIM:613647	AP5Z1	9907	HP:0007340	Lower limb muscle weakness
OMIM:613647	AP5Z1	9907	HP:0001258	Spastic paraplegia
OMIM:613500	BLNK	29760	HP:0000007	Autosomal recessive inheritance
OMIM:613500	BLNK	29760	HP:0003593	Infantile onset
OMIM:613500	BLNK	29760	HP:0004432	Agammaglobulinemia
OMIM:613500	BLNK	29760	HP:0006532	Recurrent pneumonia
OMIM:613500	BLNK	29760	HP:0001287	Meningitis
OMIM:613500	BLNK	29760	HP:0002718	Recurrent bacterial infections
OMIM:613500	TCF3	6929	HP:0000007	Autosomal recessive inheritance
OMIM:613500	TCF3	6929	HP:0003593	Infantile onset
OMIM:613500	TCF3	6929	HP:0004432	Agammaglobulinemia
OMIM:613500	TCF3	6929	HP:0006532	Recurrent pneumonia
OMIM:613500	TCF3	6929	HP:0001287	Meningitis
OMIM:613500	TCF3	6929	HP:0002718	Recurrent bacterial infections
OMIM:613500	IGHM	3507	HP:0000007	Autosomal recessive inheritance
OMIM:613500	IGHM	3507	HP:0003593	Infantile onset
OMIM:613500	IGHM	3507	HP:0004432	Agammaglobulinemia
OMIM:613500	IGHM	3507	HP:0006532	Recurrent pneumonia
OMIM:613500	IGHM	3507	HP:0001287	Meningitis
OMIM:613500	IGHM	3507	HP:0002718	Recurrent bacterial infections
OMIM:613500	LRRC8A	56262	HP:0000007	Autosomal recessive inheritance
OMIM:613500	LRRC8A	56262	HP:0003593	Infantile onset
OMIM:613500	LRRC8A	56262	HP:0004432	Agammaglobulinemia
OMIM:613500	LRRC8A	56262	HP:0006532	Recurrent pneumonia
OMIM:613500	LRRC8A	56262	HP:0001287	Meningitis
OMIM:613500	LRRC8A	56262	HP:0002718	Recurrent bacterial infections
OMIM:613500	IGLL1	3543	HP:0000007	Autosomal recessive inheritance
OMIM:613500	IGLL1	3543	HP:0003593	Infantile onset
OMIM:613500	IGLL1	3543	HP:0004432	Agammaglobulinemia
OMIM:613500	IGLL1	3543	HP:0006532	Recurrent pneumonia
OMIM:613500	IGLL1	3543	HP:0001287	Meningitis
OMIM:613500	IGLL1	3543	HP:0002718	Recurrent bacterial infections
OMIM:613500	CD79A	973	HP:0000007	Autosomal recessive inheritance
OMIM:613500	CD79A	973	HP:0003593	Infantile onset
OMIM:613500	CD79A	973	HP:0004432	Agammaglobulinemia
OMIM:613500	CD79A	973	HP:0006532	Recurrent pneumonia
OMIM:613500	CD79A	973	HP:0001287	Meningitis
OMIM:613500	CD79A	973	HP:0002718	Recurrent bacterial infections
OMIM:613500	CD79B	974	HP:0000007	Autosomal recessive inheritance
OMIM:613500	CD79B	974	HP:0003593	Infantile onset
OMIM:613500	CD79B	974	HP:0004432	Agammaglobulinemia
OMIM:613500	CD79B	974	HP:0006532	Recurrent pneumonia
OMIM:613500	CD79B	974	HP:0001287	Meningitis
OMIM:613500	CD79B	974	HP:0002718	Recurrent bacterial infections
OMIM:613500	PIK3R1	5295	HP:0000007	Autosomal recessive inheritance
OMIM:613500	PIK3R1	5295	HP:0003593	Infantile onset
OMIM:613500	PIK3R1	5295	HP:0004432	Agammaglobulinemia
OMIM:613500	PIK3R1	5295	HP:0006532	Recurrent pneumonia
OMIM:613500	PIK3R1	5295	HP:0001287	Meningitis
OMIM:613500	PIK3R1	5295	HP:0002718	Recurrent bacterial infections
OMIM:613791	MASP2	10747	HP:0004431	Complement deficiency
OMIM:613791	MASP2	10747	HP:0002725	Systemic lupus erythematosus
OMIM:613791	MASP2	10747	HP:0006532	Recurrent pneumonia
OMIM:613791	MASP2	10747	HP:0000006	Autosomal dominant inheritance
OMIM:605280	HSPD1	3329	HP:0003487	Babinski sign
OMIM:605280	HSPD1	3329	HP:0002064	Spastic gait
OMIM:605280	HSPD1	3329	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:605280	HSPD1	3329	HP:0003676	Progressive
OMIM:605280	HSPD1	3329	HP:0007340	Lower limb muscle weakness
OMIM:605280	HSPD1	3329	HP:0000012	Urinary urgency
OMIM:605280	HSPD1	3329	HP:0000020	Urinary incontinence
OMIM:605280	HSPD1	3329	HP:0000006	Autosomal dominant inheritance
OMIM:605280	HSPD1	3329	HP:0001258	Spastic paraplegia
OMIM:605280	HSPD1	3329	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:605280	HSPD1	3329	HP:0001347	Hyperreflexia
OMIM:605280	HSPD1	3329	HP:0002061	Lower limb spasticity
OMIM:263520	DYNC2H1	79659	HP:0000773	Short ribs
OMIM:263520	DYNC2H1	79659	HP:0001177	Preaxial hand polydactyly
OMIM:263520	DYNC2H1	79659	HP:0000175	Cleft palate
OMIM:263520	DYNC2H1	79659	HP:0001162	Postaxial hand polydactyly
OMIM:263520	DYNC2H1	79659	HP:0001395	Hepatic fibrosis
OMIM:263520	DYNC2H1	79659	HP:0001302	Pachygyria
OMIM:263520	DYNC2H1	79659	HP:0000007	Autosomal recessive inheritance
OMIM:263520	DYNC2H1	79659	HP:0002566	Intestinal malrotation
OMIM:263520	DYNC2H1	79659	HP:0001320	Cerebellar vermis hypoplasia
OMIM:263520	DYNC2H1	79659	HP:0001629	Ventricular septal defect
OMIM:263520	DYNC2H1	79659	HP:0000062	Ambiguous genitalia
OMIM:263520	DYNC2H1	79659	HP:0000774	Narrow chest
OMIM:263520	DYNC2H1	79659	HP:0000161	Median cleft lip
OMIM:263520	DYNC2H1	79659	HP:0000248	Brachycephaly
OMIM:263520	DYNC2H1	79659	HP:0001631	Atria septal defect
OMIM:263520	DYNC2H1	79659	HP:0002089	Pulmonary hypoplasia
OMIM:263520	DYNC2H1	79659	HP:0010984	Digenic inheritance
OMIM:263520	DYNC2H1	79659	HP:0001789	Hydrops fetalis
OMIM:263520	DYNC2H1	79659	HP:0000113	Polycystic kidney dysplasia
OMIM:263520	DYNC2H1	79659	HP:0000054	Micropenis
OMIM:263520	DYNC2H1	79659	HP:0000171	Microglossia
OMIM:263520	NEK1	4750	HP:0000773	Short ribs
OMIM:263520	NEK1	4750	HP:0001177	Preaxial hand polydactyly
OMIM:263520	NEK1	4750	HP:0000175	Cleft palate
OMIM:263520	NEK1	4750	HP:0001162	Postaxial hand polydactyly
OMIM:263520	NEK1	4750	HP:0001395	Hepatic fibrosis
OMIM:263520	NEK1	4750	HP:0001302	Pachygyria
OMIM:263520	NEK1	4750	HP:0000007	Autosomal recessive inheritance
OMIM:263520	NEK1	4750	HP:0002566	Intestinal malrotation
OMIM:263520	NEK1	4750	HP:0001320	Cerebellar vermis hypoplasia
OMIM:263520	NEK1	4750	HP:0001629	Ventricular septal defect
OMIM:263520	NEK1	4750	HP:0000062	Ambiguous genitalia
OMIM:263520	NEK1	4750	HP:0000774	Narrow chest
OMIM:263520	NEK1	4750	HP:0000161	Median cleft lip
OMIM:263520	NEK1	4750	HP:0000248	Brachycephaly
OMIM:263520	NEK1	4750	HP:0001631	Atria septal defect
OMIM:263520	NEK1	4750	HP:0002089	Pulmonary hypoplasia
OMIM:263520	NEK1	4750	HP:0010984	Digenic inheritance
OMIM:263520	NEK1	4750	HP:0001789	Hydrops fetalis
OMIM:263520	NEK1	4750	HP:0000113	Polycystic kidney dysplasia
OMIM:263520	NEK1	4750	HP:0000054	Micropenis
OMIM:263520	NEK1	4750	HP:0000171	Microglossia
OMIM:610143	MSRB3	253827	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:610143	BSND	7809	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:610143	ESPN	83715	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:610143	DFNB31	25861	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:610143	OTOA	146183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:610143	GJA1	2697	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:610143	MET	4233	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:610143	CLDN14	23562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:610143	HGF	3082	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:610143	PNPT1	87178	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:610143	EPS8	2059	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:610143	MYO3A	53904	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:610143	DCDC2	51473	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:610143	GJB2	2706	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:610143	GJB3	2707	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:610143	CABP2	51475	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:610143	GRXCR2	643226	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:610143	SERPINB6	5269	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:610143	COL11A2	1302	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:610143	CIB2	10518	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:610143	FAM65B	9750	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:610143	KARS	3735	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:610143	LOXHD1	125336	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:610143	TMC1	117531	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:610143	CLIC5	53405	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:610143	OTOF	9381	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:610143	MYO6	4646	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:610143	TMIE	259236	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:610143	MYO7A	4647	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:610143	LRTOMT	220074	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:610143	OTOGL	283310	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:610143	TPRN	286262	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:610143	SLC26A4	5172	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:610143	GJB6	10804	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:610143	DFNB59	494513	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:610143	ESRRB	2103	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:610143	TMPRSS3	64699	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:610143	PTPRQ	374462	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:610143	SLC26A5	375611	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:610143	PCDH15	65217	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:610143	TSPEAR	54084	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:610143	LHFPL5	222662	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:610143	TRIOBP	11078	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:610143	CDH23	64072	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:610143	RDX	5962	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:610143	GPSM2	29899	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:610143	ELMOD3	84173	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:610143	ILDR1	286676	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:610143	GRXCR1	389207	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:610143	MARVELD2	153562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:610143	STRC	161497	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:610143	SLITRK6	84189	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:610143	TECTA	7007	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:610143	MYO15A	51168	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:610143	USH1C	10083	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:610143	ADCY1	107	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:610143	SYNE4	163183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:610143	GIPC3	126326	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:610143	TBC1D24	57465	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:610143	OTOG	340990	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:167210	KRT17	3872	HP:0001609	Hoarse voice
OMIM:167210	KRT17	3872	HP:0008404	Nail dystrophy
OMIM:167210	KRT17	3872	HP:0000535	Sparse eyebrow
OMIM:167210	KRT17	3872	HP:0001425	Heterogeneous
OMIM:167210	KRT17	3872	HP:0000695	Natal tooth
OMIM:167210	KRT17	3872	HP:0002209	Sparse scalp hair
OMIM:167210	KRT17	3872	HP:0200040	Epidermoid cyst
OMIM:167210	KRT17	3872	HP:0000006	Autosomal dominant inheritance
OMIM:167210	KRT17	3872	HP:0002164	Nail dysplasia
OMIM:167210	KRT16	3868	HP:0001609	Hoarse voice
OMIM:167210	KRT16	3868	HP:0008404	Nail dystrophy
OMIM:167210	KRT16	3868	HP:0000535	Sparse eyebrow
OMIM:167210	KRT16	3868	HP:0001425	Heterogeneous
OMIM:167210	KRT16	3868	HP:0000695	Natal tooth
OMIM:167210	KRT16	3868	HP:0002209	Sparse scalp hair
OMIM:167210	KRT16	3868	HP:0200040	Epidermoid cyst
OMIM:167210	KRT16	3868	HP:0000006	Autosomal dominant inheritance
OMIM:167210	KRT16	3868	HP:0002164	Nail dysplasia
OMIM:167210	KRT6A	3853	HP:0001609	Hoarse voice
OMIM:167210	KRT6A	3853	HP:0008404	Nail dystrophy
OMIM:167210	KRT6A	3853	HP:0000535	Sparse eyebrow
OMIM:167210	KRT6A	3853	HP:0001425	Heterogeneous
OMIM:167210	KRT6A	3853	HP:0000695	Natal tooth
OMIM:167210	KRT6A	3853	HP:0002209	Sparse scalp hair
OMIM:167210	KRT6A	3853	HP:0200040	Epidermoid cyst
OMIM:167210	KRT6A	3853	HP:0000006	Autosomal dominant inheritance
OMIM:167210	KRT6A	3853	HP:0002164	Nail dysplasia
OMIM:167210	KRT6B	3854	HP:0001609	Hoarse voice
OMIM:167210	KRT6B	3854	HP:0008404	Nail dystrophy
OMIM:167210	KRT6B	3854	HP:0000535	Sparse eyebrow
OMIM:167210	KRT6B	3854	HP:0001425	Heterogeneous
OMIM:167210	KRT6B	3854	HP:0000695	Natal tooth
OMIM:167210	KRT6B	3854	HP:0002209	Sparse scalp hair
OMIM:167210	KRT6B	3854	HP:0200040	Epidermoid cyst
OMIM:167210	KRT6B	3854	HP:0000006	Autosomal dominant inheritance
OMIM:167210	KRT6B	3854	HP:0002164	Nail dysplasia
OMIM:606943	PCDH15	65217	HP:0001751	Vestibular dysfunction
OMIM:606943	PCDH15	65217	HP:0000510	Rod-cone dystrophy
OMIM:606943	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:606943	PCDH15	65217	HP:0004646	Hypoplasia of the nasal bone
OMIM:606943	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:606943	USH1C	10083	HP:0001751	Vestibular dysfunction
OMIM:606943	USH1C	10083	HP:0000510	Rod-cone dystrophy
OMIM:606943	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:606943	USH1C	10083	HP:0004646	Hypoplasia of the nasal bone
OMIM:606943	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:606943	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:606943	CIB2	10518	HP:0000510	Rod-cone dystrophy
OMIM:606943	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:606943	CIB2	10518	HP:0004646	Hypoplasia of the nasal bone
OMIM:606943	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:606943	MYO7A	4647	HP:0001751	Vestibular dysfunction
OMIM:606943	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:606943	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:606943	MYO7A	4647	HP:0004646	Hypoplasia of the nasal bone
OMIM:606943	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:606943	CDH23	64072	HP:0001751	Vestibular dysfunction
OMIM:606943	CDH23	64072	HP:0000510	Rod-cone dystrophy
OMIM:606943	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:606943	CDH23	64072	HP:0004646	Hypoplasia of the nasal bone
OMIM:606943	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:606943	USH1G	124590	HP:0001751	Vestibular dysfunction
OMIM:606943	USH1G	124590	HP:0000510	Rod-cone dystrophy
OMIM:606943	USH1G	124590	HP:0000007	Autosomal recessive inheritance
OMIM:606943	USH1G	124590	HP:0004646	Hypoplasia of the nasal bone
OMIM:606943	USH1G	124590	HP:0000407	Sensorineural hearing impairment
OMIM:601238	ATCAY	85300	HP:0001263	Global developmental delay
OMIM:601238	ATCAY	85300	HP:0001252	Muscular hypotonia
OMIM:601238	ATCAY	85300	HP:0000639	Nystagmus
OMIM:601238	ATCAY	85300	HP:0002066	Gait ataxia
OMIM:601238	ATCAY	85300	HP:0000007	Autosomal recessive inheritance
OMIM:601238	ATCAY	85300	HP:0001260	Dysarthria
OMIM:607453	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:607453	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:607453	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:607453	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:607453	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:607453	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:607453	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:607453	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:607453	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:607453	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:607453	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:607453	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:607453	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:607453	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:607453	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:607453	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:607453	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:607453	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:607453	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:607453	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:607453	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:607453	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:607453	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:607453	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:607453	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:607453	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:607453	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:607453	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:607453	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:607453	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:607453	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:607453	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:607453	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:607453	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:607453	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:607453	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:607453	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:607453	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:607453	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:607453	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:607453	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:607453	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:607453	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:607453	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:607453	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:607453	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:607453	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:607453	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:607453	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:607453	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:607453	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:607453	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:607453	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:607453	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:607453	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:607453	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:607453	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:607453	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:607453	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:607453	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:607453	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:607453	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:607453	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:607453	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:607453	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:607453	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:607453	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:607453	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:607453	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:607453	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:614433	CITED2	10370	HP:0000006	Autosomal dominant inheritance
OMIM:614433	CITED2	10370	HP:0001631	Atria septal defect
OMIM:203655	HR	55806	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:203655	HR	55806	HP:0000007	Autosomal recessive inheritance
OMIM:300673	MECP2	4204	HP:0006887	Intellectual disability, progressive
OMIM:300673	MECP2	4204	HP:0008936	Muscular hypotonia of the trunk
OMIM:300673	MECP2	4204	HP:0002063	Rigidity
OMIM:300673	MECP2	4204	HP:0001250	Seizures
OMIM:300673	MECP2	4204	HP:0002020	Gastroesophageal reflux
OMIM:300673	MECP2	4204	HP:0002353	EEG abnormality
OMIM:300673	MECP2	4204	HP:0000253	Progressive microcephaly
OMIM:300673	MECP2	4204	HP:0001298	Encephalopathy
OMIM:300673	MECP2	4204	HP:0001508	Failure to thrive
OMIM:300673	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300673	MECP2	4204	HP:0001336	Myoclonus
OMIM:300673	MECP2	4204	HP:0002104	Apnea
OMIM:300673	MECP2	4204	HP:0002126	Polymicrogyria
OMIM:300673	MECP2	4204	HP:0010864	Intellectual disability, severe
OMIM:300673	MECP2	4204	HP:0002093	Respiratory insufficiency
OMIM:300673	MECP2	4204	HP:0003577	Congenital onset
OMIM:300673	MECP2	4204	HP:0001347	Hyperreflexia
OMIM:300673	MECP2	4204	HP:0008872	Feeding difficulties in infancy
OMIM:300673	MECP2	4204	HP:0007110	Central hypoventilation
OMIM:300673	MECP2	4204	HP:0001263	Global developmental delay
OMIM:109650	C4A	720	HP:0004306	Abnormality of the endocardium
OMIM:109650	C4A	720	HP:0001287	Meningitis
OMIM:109650	C4A	720	HP:0002354	Memory impairment
OMIM:109650	C4A	720	HP:0001288	Gait disturbance
OMIM:109650	C4A	720	HP:0002113	Pulmonary infiltrates
OMIM:109650	C4A	720	HP:0006824	Cranial nerve paralysis
OMIM:109650	C4A	720	HP:0002633	Vasculitis
OMIM:109650	C4A	720	HP:0001061	Acne
OMIM:109650	C4A	720	HP:0001097	Keratoconjunctivitis sicca
OMIM:109650	C4A	720	HP:0002204	Pulmonary embolism
OMIM:109650	C4A	720	HP:0000488	Retinopathy
OMIM:109650	C4A	720	HP:0001633	Abnormality of the mitral valve
OMIM:109650	C4A	720	HP:0002829	Arthralgia
OMIM:109650	C4A	720	HP:0002027	Abdominal pain
OMIM:109650	C4A	720	HP:0001733	Pancreatitis
OMIM:109650	C4A	720	HP:0002376	Developmental regression
OMIM:109650	C4A	720	HP:0007256	Abnormal pyramidal signs
OMIM:109650	C4A	720	HP:0000505	Visual impairment
OMIM:109650	C4A	720	HP:0100326	Immunologic hypersensitivity
OMIM:109650	C4A	720	HP:0001646	Abnormality of the aortic valve
OMIM:109650	C4A	720	HP:0002637	Cerebral ischemia
OMIM:109650	C4A	720	HP:0001677	Coronary artery disease
OMIM:109650	C4A	720	HP:0004372	Reduced consciousness/confusion
OMIM:109650	C4A	720	HP:0002076	Migraine
OMIM:109650	C4A	720	HP:0004418	Thrombophlebitis
OMIM:109650	C4A	720	HP:0001824	Weight loss
OMIM:109650	C4A	720	HP:0002383	Encephalitis
OMIM:109650	C4A	720	HP:0001250	Seizures
OMIM:109650	C4A	720	HP:0003326	Myalgia
OMIM:109650	C4A	720	HP:0004370	Abnormality of temperature regulation
OMIM:109650	C4A	720	HP:0002321	Vertigo
OMIM:109650	C4A	720	HP:0001271	Polyneuropathy
OMIM:109650	C4A	720	HP:0002716	Lymphadenopathy
OMIM:109650	C4A	720	HP:0001369	Arthritis
OMIM:109650	C4A	720	HP:0002024	Malabsorption
OMIM:109650	C4A	720	HP:0002311	Incoordination
OMIM:109650	C4A	720	HP:0000518	Cataract
OMIM:109650	C4A	720	HP:0001347	Hyperreflexia
OMIM:109650	C4A	720	HP:0001744	Splenomegaly
OMIM:109650	C4A	720	HP:0000613	Photophobia
OMIM:109650	C4A	720	HP:0001637	Abnormality of the myocardium
OMIM:109650	C4A	720	HP:0004374	Hemiplegia/hemiparesis
OMIM:109650	C4A	720	HP:0002239	Gastrointestinal hemorrhage
OMIM:109650	C4A	720	HP:0003401	Paresthesia
OMIM:109650	C4A	720	HP:0002017	Nausea and vomiting
OMIM:109650	C4A	720	HP:0000737	Irritability
OMIM:109650	C4A	720	HP:0002039	Anorexia
OMIM:109650	C4A	720	HP:0000083	Renal insufficiency
OMIM:109650	C4A	720	HP:0004420	Arterial thrombosis
OMIM:109650	HLA-B	3106	HP:0004306	Abnormality of the endocardium
OMIM:109650	HLA-B	3106	HP:0001287	Meningitis
OMIM:109650	HLA-B	3106	HP:0002354	Memory impairment
OMIM:109650	HLA-B	3106	HP:0001288	Gait disturbance
OMIM:109650	HLA-B	3106	HP:0002113	Pulmonary infiltrates
OMIM:109650	HLA-B	3106	HP:0006824	Cranial nerve paralysis
OMIM:109650	HLA-B	3106	HP:0002633	Vasculitis
OMIM:109650	HLA-B	3106	HP:0001061	Acne
OMIM:109650	HLA-B	3106	HP:0001097	Keratoconjunctivitis sicca
OMIM:109650	HLA-B	3106	HP:0002204	Pulmonary embolism
OMIM:109650	HLA-B	3106	HP:0000488	Retinopathy
OMIM:109650	HLA-B	3106	HP:0001633	Abnormality of the mitral valve
OMIM:109650	HLA-B	3106	HP:0002829	Arthralgia
OMIM:109650	HLA-B	3106	HP:0002027	Abdominal pain
OMIM:109650	HLA-B	3106	HP:0001733	Pancreatitis
OMIM:109650	HLA-B	3106	HP:0002376	Developmental regression
OMIM:109650	HLA-B	3106	HP:0007256	Abnormal pyramidal signs
OMIM:109650	HLA-B	3106	HP:0000505	Visual impairment
OMIM:109650	HLA-B	3106	HP:0100326	Immunologic hypersensitivity
OMIM:109650	HLA-B	3106	HP:0001646	Abnormality of the aortic valve
OMIM:109650	HLA-B	3106	HP:0002637	Cerebral ischemia
OMIM:109650	HLA-B	3106	HP:0001677	Coronary artery disease
OMIM:109650	HLA-B	3106	HP:0004372	Reduced consciousness/confusion
OMIM:109650	HLA-B	3106	HP:0002076	Migraine
OMIM:109650	HLA-B	3106	HP:0004418	Thrombophlebitis
OMIM:109650	HLA-B	3106	HP:0001824	Weight loss
OMIM:109650	HLA-B	3106	HP:0002383	Encephalitis
OMIM:109650	HLA-B	3106	HP:0001250	Seizures
OMIM:109650	HLA-B	3106	HP:0003326	Myalgia
OMIM:109650	HLA-B	3106	HP:0004370	Abnormality of temperature regulation
OMIM:109650	HLA-B	3106	HP:0002321	Vertigo
OMIM:109650	HLA-B	3106	HP:0001271	Polyneuropathy
OMIM:109650	HLA-B	3106	HP:0002716	Lymphadenopathy
OMIM:109650	HLA-B	3106	HP:0001369	Arthritis
OMIM:109650	HLA-B	3106	HP:0002024	Malabsorption
OMIM:109650	HLA-B	3106	HP:0002311	Incoordination
OMIM:109650	HLA-B	3106	HP:0000518	Cataract
OMIM:109650	HLA-B	3106	HP:0001347	Hyperreflexia
OMIM:109650	HLA-B	3106	HP:0001744	Splenomegaly
OMIM:109650	HLA-B	3106	HP:0000613	Photophobia
OMIM:109650	HLA-B	3106	HP:0001637	Abnormality of the myocardium
OMIM:109650	HLA-B	3106	HP:0004374	Hemiplegia/hemiparesis
OMIM:109650	HLA-B	3106	HP:0002239	Gastrointestinal hemorrhage
OMIM:109650	HLA-B	3106	HP:0003401	Paresthesia
OMIM:109650	HLA-B	3106	HP:0002017	Nausea and vomiting
OMIM:109650	HLA-B	3106	HP:0000737	Irritability
OMIM:109650	HLA-B	3106	HP:0002039	Anorexia
OMIM:109650	HLA-B	3106	HP:0000083	Renal insufficiency
OMIM:109650	HLA-B	3106	HP:0004420	Arterial thrombosis
OMIM:109650	IL10	3586	HP:0004306	Abnormality of the endocardium
OMIM:109650	IL10	3586	HP:0001287	Meningitis
OMIM:109650	IL10	3586	HP:0002354	Memory impairment
OMIM:109650	IL10	3586	HP:0001288	Gait disturbance
OMIM:109650	IL10	3586	HP:0002113	Pulmonary infiltrates
OMIM:109650	IL10	3586	HP:0006824	Cranial nerve paralysis
OMIM:109650	IL10	3586	HP:0002633	Vasculitis
OMIM:109650	IL10	3586	HP:0001061	Acne
OMIM:109650	IL10	3586	HP:0001097	Keratoconjunctivitis sicca
OMIM:109650	IL10	3586	HP:0002204	Pulmonary embolism
OMIM:109650	IL10	3586	HP:0000488	Retinopathy
OMIM:109650	IL10	3586	HP:0001633	Abnormality of the mitral valve
OMIM:109650	IL10	3586	HP:0002829	Arthralgia
OMIM:109650	IL10	3586	HP:0002027	Abdominal pain
OMIM:109650	IL10	3586	HP:0001733	Pancreatitis
OMIM:109650	IL10	3586	HP:0002376	Developmental regression
OMIM:109650	IL10	3586	HP:0007256	Abnormal pyramidal signs
OMIM:109650	IL10	3586	HP:0000505	Visual impairment
OMIM:109650	IL10	3586	HP:0100326	Immunologic hypersensitivity
OMIM:109650	IL10	3586	HP:0001646	Abnormality of the aortic valve
OMIM:109650	IL10	3586	HP:0002637	Cerebral ischemia
OMIM:109650	IL10	3586	HP:0001677	Coronary artery disease
OMIM:109650	IL10	3586	HP:0004372	Reduced consciousness/confusion
OMIM:109650	IL10	3586	HP:0002076	Migraine
OMIM:109650	IL10	3586	HP:0004418	Thrombophlebitis
OMIM:109650	IL10	3586	HP:0001824	Weight loss
OMIM:109650	IL10	3586	HP:0002383	Encephalitis
OMIM:109650	IL10	3586	HP:0001250	Seizures
OMIM:109650	IL10	3586	HP:0003326	Myalgia
OMIM:109650	IL10	3586	HP:0004370	Abnormality of temperature regulation
OMIM:109650	IL10	3586	HP:0002321	Vertigo
OMIM:109650	IL10	3586	HP:0001271	Polyneuropathy
OMIM:109650	IL10	3586	HP:0002716	Lymphadenopathy
OMIM:109650	IL10	3586	HP:0001369	Arthritis
OMIM:109650	IL10	3586	HP:0002024	Malabsorption
OMIM:109650	IL10	3586	HP:0002311	Incoordination
OMIM:109650	IL10	3586	HP:0000518	Cataract
OMIM:109650	IL10	3586	HP:0001347	Hyperreflexia
OMIM:109650	IL10	3586	HP:0001744	Splenomegaly
OMIM:109650	IL10	3586	HP:0000613	Photophobia
OMIM:109650	IL10	3586	HP:0001637	Abnormality of the myocardium
OMIM:109650	IL10	3586	HP:0004374	Hemiplegia/hemiparesis
OMIM:109650	IL10	3586	HP:0002239	Gastrointestinal hemorrhage
OMIM:109650	IL10	3586	HP:0003401	Paresthesia
OMIM:109650	IL10	3586	HP:0002017	Nausea and vomiting
OMIM:109650	IL10	3586	HP:0000737	Irritability
OMIM:109650	IL10	3586	HP:0002039	Anorexia
OMIM:109650	IL10	3586	HP:0000083	Renal insufficiency
OMIM:109650	IL10	3586	HP:0004420	Arterial thrombosis
OMIM:109650	MEFV	4210	HP:0004306	Abnormality of the endocardium
OMIM:109650	MEFV	4210	HP:0001287	Meningitis
OMIM:109650	MEFV	4210	HP:0002354	Memory impairment
OMIM:109650	MEFV	4210	HP:0001288	Gait disturbance
OMIM:109650	MEFV	4210	HP:0002113	Pulmonary infiltrates
OMIM:109650	MEFV	4210	HP:0006824	Cranial nerve paralysis
OMIM:109650	MEFV	4210	HP:0002633	Vasculitis
OMIM:109650	MEFV	4210	HP:0001061	Acne
OMIM:109650	MEFV	4210	HP:0001097	Keratoconjunctivitis sicca
OMIM:109650	MEFV	4210	HP:0002204	Pulmonary embolism
OMIM:109650	MEFV	4210	HP:0000488	Retinopathy
OMIM:109650	MEFV	4210	HP:0001633	Abnormality of the mitral valve
OMIM:109650	MEFV	4210	HP:0002829	Arthralgia
OMIM:109650	MEFV	4210	HP:0002027	Abdominal pain
OMIM:109650	MEFV	4210	HP:0001733	Pancreatitis
OMIM:109650	MEFV	4210	HP:0002376	Developmental regression
OMIM:109650	MEFV	4210	HP:0007256	Abnormal pyramidal signs
OMIM:109650	MEFV	4210	HP:0000505	Visual impairment
OMIM:109650	MEFV	4210	HP:0100326	Immunologic hypersensitivity
OMIM:109650	MEFV	4210	HP:0001646	Abnormality of the aortic valve
OMIM:109650	MEFV	4210	HP:0002637	Cerebral ischemia
OMIM:109650	MEFV	4210	HP:0001677	Coronary artery disease
OMIM:109650	MEFV	4210	HP:0004372	Reduced consciousness/confusion
OMIM:109650	MEFV	4210	HP:0002076	Migraine
OMIM:109650	MEFV	4210	HP:0004418	Thrombophlebitis
OMIM:109650	MEFV	4210	HP:0001824	Weight loss
OMIM:109650	MEFV	4210	HP:0002383	Encephalitis
OMIM:109650	MEFV	4210	HP:0001250	Seizures
OMIM:109650	MEFV	4210	HP:0003326	Myalgia
OMIM:109650	MEFV	4210	HP:0004370	Abnormality of temperature regulation
OMIM:109650	MEFV	4210	HP:0002321	Vertigo
OMIM:109650	MEFV	4210	HP:0001271	Polyneuropathy
OMIM:109650	MEFV	4210	HP:0002716	Lymphadenopathy
OMIM:109650	MEFV	4210	HP:0001369	Arthritis
OMIM:109650	MEFV	4210	HP:0002024	Malabsorption
OMIM:109650	MEFV	4210	HP:0002311	Incoordination
OMIM:109650	MEFV	4210	HP:0000518	Cataract
OMIM:109650	MEFV	4210	HP:0001347	Hyperreflexia
OMIM:109650	MEFV	4210	HP:0001744	Splenomegaly
OMIM:109650	MEFV	4210	HP:0000613	Photophobia
OMIM:109650	MEFV	4210	HP:0001637	Abnormality of the myocardium
OMIM:109650	MEFV	4210	HP:0004374	Hemiplegia/hemiparesis
OMIM:109650	MEFV	4210	HP:0002239	Gastrointestinal hemorrhage
OMIM:109650	MEFV	4210	HP:0003401	Paresthesia
OMIM:109650	MEFV	4210	HP:0002017	Nausea and vomiting
OMIM:109650	MEFV	4210	HP:0000737	Irritability
OMIM:109650	MEFV	4210	HP:0002039	Anorexia
OMIM:109650	MEFV	4210	HP:0000083	Renal insufficiency
OMIM:109650	MEFV	4210	HP:0004420	Arterial thrombosis
OMIM:109650	IL23R	149233	HP:0004306	Abnormality of the endocardium
OMIM:109650	IL23R	149233	HP:0001287	Meningitis
OMIM:109650	IL23R	149233	HP:0002354	Memory impairment
OMIM:109650	IL23R	149233	HP:0001288	Gait disturbance
OMIM:109650	IL23R	149233	HP:0002113	Pulmonary infiltrates
OMIM:109650	IL23R	149233	HP:0006824	Cranial nerve paralysis
OMIM:109650	IL23R	149233	HP:0002633	Vasculitis
OMIM:109650	IL23R	149233	HP:0001061	Acne
OMIM:109650	IL23R	149233	HP:0001097	Keratoconjunctivitis sicca
OMIM:109650	IL23R	149233	HP:0002204	Pulmonary embolism
OMIM:109650	IL23R	149233	HP:0000488	Retinopathy
OMIM:109650	IL23R	149233	HP:0001633	Abnormality of the mitral valve
OMIM:109650	IL23R	149233	HP:0002829	Arthralgia
OMIM:109650	IL23R	149233	HP:0002027	Abdominal pain
OMIM:109650	IL23R	149233	HP:0001733	Pancreatitis
OMIM:109650	IL23R	149233	HP:0002376	Developmental regression
OMIM:109650	IL23R	149233	HP:0007256	Abnormal pyramidal signs
OMIM:109650	IL23R	149233	HP:0000505	Visual impairment
OMIM:109650	IL23R	149233	HP:0100326	Immunologic hypersensitivity
OMIM:109650	IL23R	149233	HP:0001646	Abnormality of the aortic valve
OMIM:109650	IL23R	149233	HP:0002637	Cerebral ischemia
OMIM:109650	IL23R	149233	HP:0001677	Coronary artery disease
OMIM:109650	IL23R	149233	HP:0004372	Reduced consciousness/confusion
OMIM:109650	IL23R	149233	HP:0002076	Migraine
OMIM:109650	IL23R	149233	HP:0004418	Thrombophlebitis
OMIM:109650	IL23R	149233	HP:0001824	Weight loss
OMIM:109650	IL23R	149233	HP:0002383	Encephalitis
OMIM:109650	IL23R	149233	HP:0001250	Seizures
OMIM:109650	IL23R	149233	HP:0003326	Myalgia
OMIM:109650	IL23R	149233	HP:0004370	Abnormality of temperature regulation
OMIM:109650	IL23R	149233	HP:0002321	Vertigo
OMIM:109650	IL23R	149233	HP:0001271	Polyneuropathy
OMIM:109650	IL23R	149233	HP:0002716	Lymphadenopathy
OMIM:109650	IL23R	149233	HP:0001369	Arthritis
OMIM:109650	IL23R	149233	HP:0002024	Malabsorption
OMIM:109650	IL23R	149233	HP:0002311	Incoordination
OMIM:109650	IL23R	149233	HP:0000518	Cataract
OMIM:109650	IL23R	149233	HP:0001347	Hyperreflexia
OMIM:109650	IL23R	149233	HP:0001744	Splenomegaly
OMIM:109650	IL23R	149233	HP:0000613	Photophobia
OMIM:109650	IL23R	149233	HP:0001637	Abnormality of the myocardium
OMIM:109650	IL23R	149233	HP:0004374	Hemiplegia/hemiparesis
OMIM:109650	IL23R	149233	HP:0002239	Gastrointestinal hemorrhage
OMIM:109650	IL23R	149233	HP:0003401	Paresthesia
OMIM:109650	IL23R	149233	HP:0002017	Nausea and vomiting
OMIM:109650	IL23R	149233	HP:0000737	Irritability
OMIM:109650	IL23R	149233	HP:0002039	Anorexia
OMIM:109650	IL23R	149233	HP:0000083	Renal insufficiency
OMIM:109650	IL23R	149233	HP:0004420	Arterial thrombosis
OMIM:109650	STAT4	6775	HP:0004306	Abnormality of the endocardium
OMIM:109650	STAT4	6775	HP:0001287	Meningitis
OMIM:109650	STAT4	6775	HP:0002354	Memory impairment
OMIM:109650	STAT4	6775	HP:0001288	Gait disturbance
OMIM:109650	STAT4	6775	HP:0002113	Pulmonary infiltrates
OMIM:109650	STAT4	6775	HP:0006824	Cranial nerve paralysis
OMIM:109650	STAT4	6775	HP:0002633	Vasculitis
OMIM:109650	STAT4	6775	HP:0001061	Acne
OMIM:109650	STAT4	6775	HP:0001097	Keratoconjunctivitis sicca
OMIM:109650	STAT4	6775	HP:0002204	Pulmonary embolism
OMIM:109650	STAT4	6775	HP:0000488	Retinopathy
OMIM:109650	STAT4	6775	HP:0001633	Abnormality of the mitral valve
OMIM:109650	STAT4	6775	HP:0002829	Arthralgia
OMIM:109650	STAT4	6775	HP:0002027	Abdominal pain
OMIM:109650	STAT4	6775	HP:0001733	Pancreatitis
OMIM:109650	STAT4	6775	HP:0002376	Developmental regression
OMIM:109650	STAT4	6775	HP:0007256	Abnormal pyramidal signs
OMIM:109650	STAT4	6775	HP:0000505	Visual impairment
OMIM:109650	STAT4	6775	HP:0100326	Immunologic hypersensitivity
OMIM:109650	STAT4	6775	HP:0001646	Abnormality of the aortic valve
OMIM:109650	STAT4	6775	HP:0002637	Cerebral ischemia
OMIM:109650	STAT4	6775	HP:0001677	Coronary artery disease
OMIM:109650	STAT4	6775	HP:0004372	Reduced consciousness/confusion
OMIM:109650	STAT4	6775	HP:0002076	Migraine
OMIM:109650	STAT4	6775	HP:0004418	Thrombophlebitis
OMIM:109650	STAT4	6775	HP:0001824	Weight loss
OMIM:109650	STAT4	6775	HP:0002383	Encephalitis
OMIM:109650	STAT4	6775	HP:0001250	Seizures
OMIM:109650	STAT4	6775	HP:0003326	Myalgia
OMIM:109650	STAT4	6775	HP:0004370	Abnormality of temperature regulation
OMIM:109650	STAT4	6775	HP:0002321	Vertigo
OMIM:109650	STAT4	6775	HP:0001271	Polyneuropathy
OMIM:109650	STAT4	6775	HP:0002716	Lymphadenopathy
OMIM:109650	STAT4	6775	HP:0001369	Arthritis
OMIM:109650	STAT4	6775	HP:0002024	Malabsorption
OMIM:109650	STAT4	6775	HP:0002311	Incoordination
OMIM:109650	STAT4	6775	HP:0000518	Cataract
OMIM:109650	STAT4	6775	HP:0001347	Hyperreflexia
OMIM:109650	STAT4	6775	HP:0001744	Splenomegaly
OMIM:109650	STAT4	6775	HP:0000613	Photophobia
OMIM:109650	STAT4	6775	HP:0001637	Abnormality of the myocardium
OMIM:109650	STAT4	6775	HP:0004374	Hemiplegia/hemiparesis
OMIM:109650	STAT4	6775	HP:0002239	Gastrointestinal hemorrhage
OMIM:109650	STAT4	6775	HP:0003401	Paresthesia
OMIM:109650	STAT4	6775	HP:0002017	Nausea and vomiting
OMIM:109650	STAT4	6775	HP:0000737	Irritability
OMIM:109650	STAT4	6775	HP:0002039	Anorexia
OMIM:109650	STAT4	6775	HP:0000083	Renal insufficiency
OMIM:109650	STAT4	6775	HP:0004420	Arterial thrombosis
OMIM:109650	IL12A	3592	HP:0004306	Abnormality of the endocardium
OMIM:109650	IL12A	3592	HP:0001287	Meningitis
OMIM:109650	IL12A	3592	HP:0002354	Memory impairment
OMIM:109650	IL12A	3592	HP:0001288	Gait disturbance
OMIM:109650	IL12A	3592	HP:0002113	Pulmonary infiltrates
OMIM:109650	IL12A	3592	HP:0006824	Cranial nerve paralysis
OMIM:109650	IL12A	3592	HP:0002633	Vasculitis
OMIM:109650	IL12A	3592	HP:0001061	Acne
OMIM:109650	IL12A	3592	HP:0001097	Keratoconjunctivitis sicca
OMIM:109650	IL12A	3592	HP:0002204	Pulmonary embolism
OMIM:109650	IL12A	3592	HP:0000488	Retinopathy
OMIM:109650	IL12A	3592	HP:0001633	Abnormality of the mitral valve
OMIM:109650	IL12A	3592	HP:0002829	Arthralgia
OMIM:109650	IL12A	3592	HP:0002027	Abdominal pain
OMIM:109650	IL12A	3592	HP:0001733	Pancreatitis
OMIM:109650	IL12A	3592	HP:0002376	Developmental regression
OMIM:109650	IL12A	3592	HP:0007256	Abnormal pyramidal signs
OMIM:109650	IL12A	3592	HP:0000505	Visual impairment
OMIM:109650	IL12A	3592	HP:0100326	Immunologic hypersensitivity
OMIM:109650	IL12A	3592	HP:0001646	Abnormality of the aortic valve
OMIM:109650	IL12A	3592	HP:0002637	Cerebral ischemia
OMIM:109650	IL12A	3592	HP:0001677	Coronary artery disease
OMIM:109650	IL12A	3592	HP:0004372	Reduced consciousness/confusion
OMIM:109650	IL12A	3592	HP:0002076	Migraine
OMIM:109650	IL12A	3592	HP:0004418	Thrombophlebitis
OMIM:109650	IL12A	3592	HP:0001824	Weight loss
OMIM:109650	IL12A	3592	HP:0002383	Encephalitis
OMIM:109650	IL12A	3592	HP:0001250	Seizures
OMIM:109650	IL12A	3592	HP:0003326	Myalgia
OMIM:109650	IL12A	3592	HP:0004370	Abnormality of temperature regulation
OMIM:109650	IL12A	3592	HP:0002321	Vertigo
OMIM:109650	IL12A	3592	HP:0001271	Polyneuropathy
OMIM:109650	IL12A	3592	HP:0002716	Lymphadenopathy
OMIM:109650	IL12A	3592	HP:0001369	Arthritis
OMIM:109650	IL12A	3592	HP:0002024	Malabsorption
OMIM:109650	IL12A	3592	HP:0002311	Incoordination
OMIM:109650	IL12A	3592	HP:0000518	Cataract
OMIM:109650	IL12A	3592	HP:0001347	Hyperreflexia
OMIM:109650	IL12A	3592	HP:0001744	Splenomegaly
OMIM:109650	IL12A	3592	HP:0000613	Photophobia
OMIM:109650	IL12A	3592	HP:0001637	Abnormality of the myocardium
OMIM:109650	IL12A	3592	HP:0004374	Hemiplegia/hemiparesis
OMIM:109650	IL12A	3592	HP:0002239	Gastrointestinal hemorrhage
OMIM:109650	IL12A	3592	HP:0003401	Paresthesia
OMIM:109650	IL12A	3592	HP:0002017	Nausea and vomiting
OMIM:109650	IL12A	3592	HP:0000737	Irritability
OMIM:109650	IL12A	3592	HP:0002039	Anorexia
OMIM:109650	IL12A	3592	HP:0000083	Renal insufficiency
OMIM:109650	IL12A	3592	HP:0004420	Arterial thrombosis
OMIM:109650	IL12RB2	3595	HP:0004306	Abnormality of the endocardium
OMIM:109650	IL12RB2	3595	HP:0001287	Meningitis
OMIM:109650	IL12RB2	3595	HP:0002354	Memory impairment
OMIM:109650	IL12RB2	3595	HP:0001288	Gait disturbance
OMIM:109650	IL12RB2	3595	HP:0002113	Pulmonary infiltrates
OMIM:109650	IL12RB2	3595	HP:0006824	Cranial nerve paralysis
OMIM:109650	IL12RB2	3595	HP:0002633	Vasculitis
OMIM:109650	IL12RB2	3595	HP:0001061	Acne
OMIM:109650	IL12RB2	3595	HP:0001097	Keratoconjunctivitis sicca
OMIM:109650	IL12RB2	3595	HP:0002204	Pulmonary embolism
OMIM:109650	IL12RB2	3595	HP:0000488	Retinopathy
OMIM:109650	IL12RB2	3595	HP:0001633	Abnormality of the mitral valve
OMIM:109650	IL12RB2	3595	HP:0002829	Arthralgia
OMIM:109650	IL12RB2	3595	HP:0002027	Abdominal pain
OMIM:109650	IL12RB2	3595	HP:0001733	Pancreatitis
OMIM:109650	IL12RB2	3595	HP:0002376	Developmental regression
OMIM:109650	IL12RB2	3595	HP:0007256	Abnormal pyramidal signs
OMIM:109650	IL12RB2	3595	HP:0000505	Visual impairment
OMIM:109650	IL12RB2	3595	HP:0100326	Immunologic hypersensitivity
OMIM:109650	IL12RB2	3595	HP:0001646	Abnormality of the aortic valve
OMIM:109650	IL12RB2	3595	HP:0002637	Cerebral ischemia
OMIM:109650	IL12RB2	3595	HP:0001677	Coronary artery disease
OMIM:109650	IL12RB2	3595	HP:0004372	Reduced consciousness/confusion
OMIM:109650	IL12RB2	3595	HP:0002076	Migraine
OMIM:109650	IL12RB2	3595	HP:0004418	Thrombophlebitis
OMIM:109650	IL12RB2	3595	HP:0001824	Weight loss
OMIM:109650	IL12RB2	3595	HP:0002383	Encephalitis
OMIM:109650	IL12RB2	3595	HP:0001250	Seizures
OMIM:109650	IL12RB2	3595	HP:0003326	Myalgia
OMIM:109650	IL12RB2	3595	HP:0004370	Abnormality of temperature regulation
OMIM:109650	IL12RB2	3595	HP:0002321	Vertigo
OMIM:109650	IL12RB2	3595	HP:0001271	Polyneuropathy
OMIM:109650	IL12RB2	3595	HP:0002716	Lymphadenopathy
OMIM:109650	IL12RB2	3595	HP:0001369	Arthritis
OMIM:109650	IL12RB2	3595	HP:0002024	Malabsorption
OMIM:109650	IL12RB2	3595	HP:0002311	Incoordination
OMIM:109650	IL12RB2	3595	HP:0000518	Cataract
OMIM:109650	IL12RB2	3595	HP:0001347	Hyperreflexia
OMIM:109650	IL12RB2	3595	HP:0001744	Splenomegaly
OMIM:109650	IL12RB2	3595	HP:0000613	Photophobia
OMIM:109650	IL12RB2	3595	HP:0001637	Abnormality of the myocardium
OMIM:109650	IL12RB2	3595	HP:0004374	Hemiplegia/hemiparesis
OMIM:109650	IL12RB2	3595	HP:0002239	Gastrointestinal hemorrhage
OMIM:109650	IL12RB2	3595	HP:0003401	Paresthesia
OMIM:109650	IL12RB2	3595	HP:0002017	Nausea and vomiting
OMIM:109650	IL12RB2	3595	HP:0000737	Irritability
OMIM:109650	IL12RB2	3595	HP:0002039	Anorexia
OMIM:109650	IL12RB2	3595	HP:0000083	Renal insufficiency
OMIM:109650	IL12RB2	3595	HP:0004420	Arterial thrombosis
OMIM:109650	TLR4	7099	HP:0004306	Abnormality of the endocardium
OMIM:109650	TLR4	7099	HP:0001287	Meningitis
OMIM:109650	TLR4	7099	HP:0002354	Memory impairment
OMIM:109650	TLR4	7099	HP:0001288	Gait disturbance
OMIM:109650	TLR4	7099	HP:0002113	Pulmonary infiltrates
OMIM:109650	TLR4	7099	HP:0006824	Cranial nerve paralysis
OMIM:109650	TLR4	7099	HP:0002633	Vasculitis
OMIM:109650	TLR4	7099	HP:0001061	Acne
OMIM:109650	TLR4	7099	HP:0001097	Keratoconjunctivitis sicca
OMIM:109650	TLR4	7099	HP:0002204	Pulmonary embolism
OMIM:109650	TLR4	7099	HP:0000488	Retinopathy
OMIM:109650	TLR4	7099	HP:0001633	Abnormality of the mitral valve
OMIM:109650	TLR4	7099	HP:0002829	Arthralgia
OMIM:109650	TLR4	7099	HP:0002027	Abdominal pain
OMIM:109650	TLR4	7099	HP:0001733	Pancreatitis
OMIM:109650	TLR4	7099	HP:0002376	Developmental regression
OMIM:109650	TLR4	7099	HP:0007256	Abnormal pyramidal signs
OMIM:109650	TLR4	7099	HP:0000505	Visual impairment
OMIM:109650	TLR4	7099	HP:0100326	Immunologic hypersensitivity
OMIM:109650	TLR4	7099	HP:0001646	Abnormality of the aortic valve
OMIM:109650	TLR4	7099	HP:0002637	Cerebral ischemia
OMIM:109650	TLR4	7099	HP:0001677	Coronary artery disease
OMIM:109650	TLR4	7099	HP:0004372	Reduced consciousness/confusion
OMIM:109650	TLR4	7099	HP:0002076	Migraine
OMIM:109650	TLR4	7099	HP:0004418	Thrombophlebitis
OMIM:109650	TLR4	7099	HP:0001824	Weight loss
OMIM:109650	TLR4	7099	HP:0002383	Encephalitis
OMIM:109650	TLR4	7099	HP:0001250	Seizures
OMIM:109650	TLR4	7099	HP:0003326	Myalgia
OMIM:109650	TLR4	7099	HP:0004370	Abnormality of temperature regulation
OMIM:109650	TLR4	7099	HP:0002321	Vertigo
OMIM:109650	TLR4	7099	HP:0001271	Polyneuropathy
OMIM:109650	TLR4	7099	HP:0002716	Lymphadenopathy
OMIM:109650	TLR4	7099	HP:0001369	Arthritis
OMIM:109650	TLR4	7099	HP:0002024	Malabsorption
OMIM:109650	TLR4	7099	HP:0002311	Incoordination
OMIM:109650	TLR4	7099	HP:0000518	Cataract
OMIM:109650	TLR4	7099	HP:0001347	Hyperreflexia
OMIM:109650	TLR4	7099	HP:0001744	Splenomegaly
OMIM:109650	TLR4	7099	HP:0000613	Photophobia
OMIM:109650	TLR4	7099	HP:0001637	Abnormality of the myocardium
OMIM:109650	TLR4	7099	HP:0004374	Hemiplegia/hemiparesis
OMIM:109650	TLR4	7099	HP:0002239	Gastrointestinal hemorrhage
OMIM:109650	TLR4	7099	HP:0003401	Paresthesia
OMIM:109650	TLR4	7099	HP:0002017	Nausea and vomiting
OMIM:109650	TLR4	7099	HP:0000737	Irritability
OMIM:109650	TLR4	7099	HP:0002039	Anorexia
OMIM:109650	TLR4	7099	HP:0000083	Renal insufficiency
OMIM:109650	TLR4	7099	HP:0004420	Arterial thrombosis
OMIM:109650	NOD2	64127	HP:0004306	Abnormality of the endocardium
OMIM:109650	NOD2	64127	HP:0001287	Meningitis
OMIM:109650	NOD2	64127	HP:0002354	Memory impairment
OMIM:109650	NOD2	64127	HP:0001288	Gait disturbance
OMIM:109650	NOD2	64127	HP:0002113	Pulmonary infiltrates
OMIM:109650	NOD2	64127	HP:0006824	Cranial nerve paralysis
OMIM:109650	NOD2	64127	HP:0002633	Vasculitis
OMIM:109650	NOD2	64127	HP:0001061	Acne
OMIM:109650	NOD2	64127	HP:0001097	Keratoconjunctivitis sicca
OMIM:109650	NOD2	64127	HP:0002204	Pulmonary embolism
OMIM:109650	NOD2	64127	HP:0000488	Retinopathy
OMIM:109650	NOD2	64127	HP:0001633	Abnormality of the mitral valve
OMIM:109650	NOD2	64127	HP:0002829	Arthralgia
OMIM:109650	NOD2	64127	HP:0002027	Abdominal pain
OMIM:109650	NOD2	64127	HP:0001733	Pancreatitis
OMIM:109650	NOD2	64127	HP:0002376	Developmental regression
OMIM:109650	NOD2	64127	HP:0007256	Abnormal pyramidal signs
OMIM:109650	NOD2	64127	HP:0000505	Visual impairment
OMIM:109650	NOD2	64127	HP:0100326	Immunologic hypersensitivity
OMIM:109650	NOD2	64127	HP:0001646	Abnormality of the aortic valve
OMIM:109650	NOD2	64127	HP:0002637	Cerebral ischemia
OMIM:109650	NOD2	64127	HP:0001677	Coronary artery disease
OMIM:109650	NOD2	64127	HP:0004372	Reduced consciousness/confusion
OMIM:109650	NOD2	64127	HP:0002076	Migraine
OMIM:109650	NOD2	64127	HP:0004418	Thrombophlebitis
OMIM:109650	NOD2	64127	HP:0001824	Weight loss
OMIM:109650	NOD2	64127	HP:0002383	Encephalitis
OMIM:109650	NOD2	64127	HP:0001250	Seizures
OMIM:109650	NOD2	64127	HP:0003326	Myalgia
OMIM:109650	NOD2	64127	HP:0004370	Abnormality of temperature regulation
OMIM:109650	NOD2	64127	HP:0002321	Vertigo
OMIM:109650	NOD2	64127	HP:0001271	Polyneuropathy
OMIM:109650	NOD2	64127	HP:0002716	Lymphadenopathy
OMIM:109650	NOD2	64127	HP:0001369	Arthritis
OMIM:109650	NOD2	64127	HP:0002024	Malabsorption
OMIM:109650	NOD2	64127	HP:0002311	Incoordination
OMIM:109650	NOD2	64127	HP:0000518	Cataract
OMIM:109650	NOD2	64127	HP:0001347	Hyperreflexia
OMIM:109650	NOD2	64127	HP:0001744	Splenomegaly
OMIM:109650	NOD2	64127	HP:0000613	Photophobia
OMIM:109650	NOD2	64127	HP:0001637	Abnormality of the myocardium
OMIM:109650	NOD2	64127	HP:0004374	Hemiplegia/hemiparesis
OMIM:109650	NOD2	64127	HP:0002239	Gastrointestinal hemorrhage
OMIM:109650	NOD2	64127	HP:0003401	Paresthesia
OMIM:109650	NOD2	64127	HP:0002017	Nausea and vomiting
OMIM:109650	NOD2	64127	HP:0000737	Irritability
OMIM:109650	NOD2	64127	HP:0002039	Anorexia
OMIM:109650	NOD2	64127	HP:0000083	Renal insufficiency
OMIM:109650	NOD2	64127	HP:0004420	Arterial thrombosis
OMIM:312170	PDHA1	5160	HP:0001518	Small for gestational age
OMIM:312170	PDHA1	5160	HP:0002059	Cerebral atrophy
OMIM:312170	PDHA1	5160	HP:0001254	Lethargy
OMIM:312170	PDHA1	5160	HP:0002151	Increased serum lactate
OMIM:312170	PDHA1	5160	HP:0000431	Wide nasal bridge
OMIM:312170	PDHA1	5160	HP:0002490	Increased CSF lactate
OMIM:312170	PDHA1	5160	HP:0001274	Agenesis of corpus callosum
OMIM:312170	PDHA1	5160	HP:0000496	Abnormality of eye movement
OMIM:312170	PDHA1	5160	HP:0003812	Phenotypic variability
OMIM:312170	PDHA1	5160	HP:0001423	X-linked dominant inheritance
OMIM:312170	PDHA1	5160	HP:0000508	Ptosis
OMIM:312170	PDHA1	5160	HP:0002131	Episodic ataxia
OMIM:312170	PDHA1	5160	HP:0001999	Abnormal facial shape
OMIM:312170	PDHA1	5160	HP:0001263	Global developmental delay
OMIM:312170	PDHA1	5160	HP:0001332	Dystonia
OMIM:312170	PDHA1	5160	HP:0001266	Choreoathetosis
OMIM:312170	PDHA1	5160	HP:0003593	Infantile onset
OMIM:312170	PDHA1	5160	HP:0001252	Muscular hypotonia
OMIM:312170	PDHA1	5160	HP:0000463	Anteverted nares
OMIM:312170	PDHA1	5160	HP:0000343	Long philtrum
OMIM:312170	PDHA1	5160	HP:0000252	Microcephaly
OMIM:312170	PDHA1	5160	HP:0001249	Intellectual disability
OMIM:312170	PDHA1	5160	HP:0002007	Frontal bossing
OMIM:312170	PDHA1	5160	HP:0001250	Seizures
OMIM:312170	PDHA1	5160	HP:0002119	Ventriculomegaly
OMIM:271530	PAPSS2	9060	HP:0000926	Platyspondyly
OMIM:271530	PAPSS2	9060	HP:0000938	Osteopenia
OMIM:271530	PAPSS2	9060	HP:0002650	Scoliosis
OMIM:271530	PAPSS2	9060	HP:0000478	Abnormality of the eye
OMIM:271530	PAPSS2	9060	HP:0002983	Micromelia
OMIM:271530	PAPSS2	9060	HP:0000470	Short neck
OMIM:271530	PAPSS2	9060	HP:0003026	Short long bone
OMIM:271530	PAPSS2	9060	HP:0100864	Short femoral neck
OMIM:271530	PAPSS2	9060	HP:0003521	Disproportionate short-trunk short stature
OMIM:271530	PAPSS2	9060	HP:0000007	Autosomal recessive inheritance
OMIM:271530	PAPSS2	9060	HP:0002808	Kyphosis
OMIM:271530	PAPSS2	9060	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:271530	PAPSS2	9060	HP:0000768	Pectus carinatum
OMIM:271530	PAPSS2	9060	HP:0000944	Abnormality of the metaphyses
OMIM:271530	PAPSS2	9060	HP:0010306	Short thorax
OMIM:271530	PAPSS2	9060	HP:0003416	Spinal canal stenosis
OMIM:277600	ADAMTS10	81794	HP:0000518	Cataract
OMIM:277600	ADAMTS10	81794	HP:0001643	Patent ductus arteriosus
OMIM:277600	ADAMTS10	81794	HP:0000692	Misalignment of teeth
OMIM:277600	ADAMTS10	81794	HP:0001083	Ectopia lentis
OMIM:277600	ADAMTS10	81794	HP:0001642	Pulmonic stenosis
OMIM:277600	ADAMTS10	81794	HP:0002682	Broad skull
OMIM:277600	ADAMTS10	81794	HP:0000501	Glaucoma
OMIM:277600	ADAMTS10	81794	HP:0001156	Brachydactyly syndrome
OMIM:277600	ADAMTS10	81794	HP:0001653	Mitral regurgitation
OMIM:277600	ADAMTS10	81794	HP:0001629	Ventricular septal defect
OMIM:277600	ADAMTS10	81794	HP:0005280	Depressed nasal bridge
OMIM:277600	ADAMTS10	81794	HP:0001650	Aortic valve stenosis
OMIM:277600	ADAMTS10	81794	HP:0002650	Scoliosis
OMIM:277600	ADAMTS10	81794	HP:0000327	Hypoplasia of the maxilla
OMIM:277600	ADAMTS10	81794	HP:0002938	Lumbar hyperlordosis
OMIM:277600	ADAMTS10	81794	HP:0011003	Severe Myopia
OMIM:277600	ADAMTS10	81794	HP:0001256	Intellectual disability, mild
OMIM:277600	ADAMTS10	81794	HP:0000618	Blindness
OMIM:277600	ADAMTS10	81794	HP:0006482	Abnormality of dental morphology
OMIM:277600	ADAMTS10	81794	HP:0000007	Autosomal recessive inheritance
OMIM:277600	ADAMTS10	81794	HP:0009768	Broad phalanges of the hand
OMIM:277600	ADAMTS10	81794	HP:0003508	Proportionate short stature
OMIM:277600	ADAMTS10	81794	HP:0003416	Spinal canal stenosis
OMIM:277600	ADAMTS10	81794	HP:0001387	Joint stiffness
OMIM:277600	ADAMTS10	81794	HP:0000189	Narrow palate
OMIM:277600	ADAMTS10	81794	HP:0000248	Brachycephaly
OMIM:277600	LTBP2	4053	HP:0000518	Cataract
OMIM:277600	LTBP2	4053	HP:0001643	Patent ductus arteriosus
OMIM:277600	LTBP2	4053	HP:0000692	Misalignment of teeth
OMIM:277600	LTBP2	4053	HP:0001083	Ectopia lentis
OMIM:277600	LTBP2	4053	HP:0001642	Pulmonic stenosis
OMIM:277600	LTBP2	4053	HP:0002682	Broad skull
OMIM:277600	LTBP2	4053	HP:0000501	Glaucoma
OMIM:277600	LTBP2	4053	HP:0001156	Brachydactyly syndrome
OMIM:277600	LTBP2	4053	HP:0001653	Mitral regurgitation
OMIM:277600	LTBP2	4053	HP:0001629	Ventricular septal defect
OMIM:277600	LTBP2	4053	HP:0005280	Depressed nasal bridge
OMIM:277600	LTBP2	4053	HP:0001650	Aortic valve stenosis
OMIM:277600	LTBP2	4053	HP:0002650	Scoliosis
OMIM:277600	LTBP2	4053	HP:0000327	Hypoplasia of the maxilla
OMIM:277600	LTBP2	4053	HP:0002938	Lumbar hyperlordosis
OMIM:277600	LTBP2	4053	HP:0011003	Severe Myopia
OMIM:277600	LTBP2	4053	HP:0001256	Intellectual disability, mild
OMIM:277600	LTBP2	4053	HP:0000618	Blindness
OMIM:277600	LTBP2	4053	HP:0006482	Abnormality of dental morphology
OMIM:277600	LTBP2	4053	HP:0000007	Autosomal recessive inheritance
OMIM:277600	LTBP2	4053	HP:0009768	Broad phalanges of the hand
OMIM:277600	LTBP2	4053	HP:0003508	Proportionate short stature
OMIM:277600	LTBP2	4053	HP:0003416	Spinal canal stenosis
OMIM:277600	LTBP2	4053	HP:0001387	Joint stiffness
OMIM:277600	LTBP2	4053	HP:0000189	Narrow palate
OMIM:277600	LTBP2	4053	HP:0000248	Brachycephaly
OMIM:277600	FBN1	2200	HP:0000518	Cataract
OMIM:277600	FBN1	2200	HP:0001643	Patent ductus arteriosus
OMIM:277600	FBN1	2200	HP:0000692	Misalignment of teeth
OMIM:277600	FBN1	2200	HP:0001083	Ectopia lentis
OMIM:277600	FBN1	2200	HP:0001642	Pulmonic stenosis
OMIM:277600	FBN1	2200	HP:0002682	Broad skull
OMIM:277600	FBN1	2200	HP:0000501	Glaucoma
OMIM:277600	FBN1	2200	HP:0001156	Brachydactyly syndrome
OMIM:277600	FBN1	2200	HP:0001653	Mitral regurgitation
OMIM:277600	FBN1	2200	HP:0001629	Ventricular septal defect
OMIM:277600	FBN1	2200	HP:0005280	Depressed nasal bridge
OMIM:277600	FBN1	2200	HP:0001650	Aortic valve stenosis
OMIM:277600	FBN1	2200	HP:0002650	Scoliosis
OMIM:277600	FBN1	2200	HP:0000327	Hypoplasia of the maxilla
OMIM:277600	FBN1	2200	HP:0002938	Lumbar hyperlordosis
OMIM:277600	FBN1	2200	HP:0011003	Severe Myopia
OMIM:277600	FBN1	2200	HP:0001256	Intellectual disability, mild
OMIM:277600	FBN1	2200	HP:0000618	Blindness
OMIM:277600	FBN1	2200	HP:0006482	Abnormality of dental morphology
OMIM:277600	FBN1	2200	HP:0000007	Autosomal recessive inheritance
OMIM:277600	FBN1	2200	HP:0009768	Broad phalanges of the hand
OMIM:277600	FBN1	2200	HP:0003508	Proportionate short stature
OMIM:277600	FBN1	2200	HP:0003416	Spinal canal stenosis
OMIM:277600	FBN1	2200	HP:0001387	Joint stiffness
OMIM:277600	FBN1	2200	HP:0000189	Narrow palate
OMIM:277600	FBN1	2200	HP:0000248	Brachycephaly
OMIM:614748	ITGA3	3675	HP:0001030	Fragile skin
OMIM:614748	ITGA3	3675	HP:0000097	Focal segmental glomerulosclerosis
OMIM:614748	ITGA3	3675	HP:0000100	Nephrotic syndrome
OMIM:614748	ITGA3	3675	HP:0000653	Sparse eyelashes
OMIM:614748	ITGA3	3675	HP:0000311	Round face
OMIM:614748	ITGA3	3675	HP:0000160	Narrow mouth
OMIM:614748	ITGA3	3675	HP:0000316	Hypertelorism
OMIM:614748	ITGA3	3675	HP:0008404	Nail dystrophy
OMIM:614748	ITGA3	3675	HP:0000252	Microcephaly
OMIM:614748	ITGA3	3675	HP:0002205	Recurrent respiratory infections
OMIM:614748	ITGA3	3675	HP:0002213	Fine hair
OMIM:614748	ITGA3	3675	HP:0002209	Sparse scalp hair
OMIM:614748	ITGA3	3675	HP:0000083	Renal insufficiency
OMIM:614748	ITGA3	3675	HP:0003073	Hypoalbuminemia
OMIM:614748	ITGA3	3675	HP:0000774	Narrow chest
OMIM:614748	ITGA3	3675	HP:0000400	Macrotia
OMIM:614748	ITGA3	3675	HP:0000535	Sparse eyebrow
OMIM:614748	ITGA3	3675	HP:0011220	Prominent forehead
OMIM:614748	ITGA3	3675	HP:0002098	Respiratory distress
OMIM:613630	CHUK	1147	HP:0009824	Upper limb undergrowth
OMIM:613630	CHUK	1147	HP:0010808	Protruding tongue
OMIM:613630	CHUK	1147	HP:0000007	Autosomal recessive inheritance
OMIM:613630	CHUK	1147	HP:0000252	Microcephaly
OMIM:613630	CHUK	1147	HP:0000963	Thin skin
OMIM:613630	CHUK	1147	HP:0009816	Lower limb undergrowth
OMIM:613630	CHUK	1147	HP:0001539	Omphalocele
OMIM:116790	COMT	1312	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:116790	COMT	1312	HP:0000007	Autosomal recessive inheritance
OMIM:263650	RIPK4	54101	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:263650	RIPK4	54101	HP:0001792	Small nail
OMIM:263650	RIPK4	54101	HP:0000347	Micrognathia
OMIM:263650	RIPK4	54101	HP:0000369	Low-set ears
OMIM:263650	RIPK4	54101	HP:0000204	Cleft upper lip
OMIM:263650	RIPK4	54101	HP:0000568	Microphthalmia
OMIM:263650	RIPK4	54101	HP:0003196	Short nose
OMIM:263650	RIPK4	54101	HP:0006610	Wide intermamillary distance
OMIM:263650	RIPK4	54101	HP:0100543	Cognitive impairment
OMIM:263650	RIPK4	54101	HP:0008050	Abnormality of the palpebral fissures
OMIM:263650	RIPK4	54101	HP:0000062	Ambiguous genitalia
OMIM:263650	RIPK4	54101	HP:0002025	Anal stenosis
OMIM:263650	RIPK4	54101	HP:0001511	Intrauterine growth retardation
OMIM:263650	RIPK4	54101	HP:0009803	Short phalanx of finger
OMIM:263650	RIPK4	54101	HP:0001770	Toe syndactyly
OMIM:263650	RIPK4	54101	HP:0009777	Absent thumb
OMIM:263650	RIPK4	54101	HP:0000252	Microcephaly
OMIM:263650	RIPK4	54101	HP:0007759	Opacification of the corneal stroma
OMIM:263650	RIPK4	54101	HP:0000625	Cleft eyelid
OMIM:263650	RIPK4	54101	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:263650	RIPK4	54101	HP:0000316	Hypertelorism
OMIM:263650	RIPK4	54101	HP:0100240	Synostosis of joints
OMIM:263650	RIPK4	54101	HP:0000882	Hypoplastic scapulae
OMIM:263650	RIPK4	54101	HP:0001883	Talipes
OMIM:263650	RIPK4	54101	HP:0011362	Abnormal hair quantity
OMIM:263650	RIPK4	54101	HP:0000050	Hypoplastic male external genitalia
OMIM:263650	RIPK4	54101	HP:0000175	Cleft palate
OMIM:263650	RIPK4	54101	HP:0009755	Ankyloblepharon
OMIM:263650	RIPK4	54101	HP:0001800	Hypoplastic toenails
OMIM:263650	RIPK4	54101	HP:0000007	Autosomal recessive inheritance
OMIM:263650	RIPK4	54101	HP:0000430	Underdeveloped nasal alae
OMIM:263650	RIPK4	54101	HP:0000378	Cupped ear
OMIM:263650	RIPK4	54101	HP:0001159	Syndactyly
OMIM:263650	RIPK4	54101	HP:0000078	Abnormality of the genital system
OMIM:263650	RIPK4	54101	HP:0000160	Narrow mouth
OMIM:263650	RIPK4	54101	HP:0006101	Finger syndactyly
OMIM:263650	RIPK4	54101	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
OMIM:263650	RIPK4	54101	HP:0000327	Hypoplasia of the maxilla
OMIM:263650	RIPK4	54101	HP:0008678	Renal hypoplasia/aplasia
OMIM:263650	RIPK4	54101	HP:0001798	Anonychia
OMIM:263650	RIPK4	54101	HP:0000161	Median cleft lip
OMIM:263650	RIPK4	54101	HP:0002006	Facial cleft
OMIM:263650	RIPK4	54101	HP:0000499	Abnormality of the eyelashes
OMIM:612954	BAG3	9531	HP:0006380	Knee flexion contracture
OMIM:612954	BAG3	9531	HP:0001265	Hyporeflexia
OMIM:612954	BAG3	9531	HP:0003458	EMG: myopathic abnormalities
OMIM:612954	BAG3	9531	HP:0010628	Facial palsy
OMIM:612954	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:612954	BAG3	9531	HP:0003678	Rapidly progressive
OMIM:612954	BAG3	9531	HP:0001761	Pes cavus
OMIM:612954	BAG3	9531	HP:0003306	Spinal rigidity
OMIM:612954	BAG3	9531	HP:0002650	Scoliosis
OMIM:612954	BAG3	9531	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612954	BAG3	9531	HP:0002093	Respiratory insufficiency
OMIM:612954	BAG3	9531	HP:0002936	Distal sensory impairment
OMIM:612954	BAG3	9531	HP:0001611	Nasal speech
OMIM:612954	BAG3	9531	HP:0001639	Hypertrophic cardiomyopathy
OMIM:612954	BAG3	9531	HP:0003560	Muscular dystrophy
OMIM:180200	RB1	5925	HP:0002669	Osteosarcoma
OMIM:180200	RB1	5925	HP:0000175	Cleft palate
OMIM:180200	RB1	5925	HP:0001909	Leukemia
OMIM:180200	RB1	5925	HP:0003745	Sporadic
OMIM:180200	RB1	5925	HP:0002665	Lymphoma
OMIM:180200	RB1	5925	HP:0000006	Autosomal dominant inheritance
OMIM:180200	RB1	5925	HP:0001428	Somatic mutation
OMIM:613217	EPCAM	4072	HP:0011473	Villous atrophy
OMIM:613217	EPCAM	4072	HP:0000007	Autosomal recessive inheritance
OMIM:613217	EPCAM	4072	HP:0001518	Small for gestational age
OMIM:613217	EPCAM	4072	HP:0001369	Arthritis
OMIM:613217	EPCAM	4072	HP:0001508	Failure to thrive
OMIM:613217	EPCAM	4072	HP:0002041	Intractable diarrhea
OMIM:162210	NF1	4763	HP:0000957	Cafe-au-lait spot
OMIM:162210	NF1	4763	HP:0007340	Lower limb muscle weakness
OMIM:162210	NF1	4763	HP:0002385	Paraparesis
OMIM:162210	NF1	4763	HP:0000006	Autosomal dominant inheritance
OMIM:162210	NF1	4763	HP:0001480	Freckling
OMIM:102700	ADA	100	HP:0002099	Asthma
OMIM:102700	ADA	100	HP:0001442	Somatic mosaicism
OMIM:102700	ADA	100	HP:0004430	Severe combined immunodeficiency
OMIM:102700	ADA	100	HP:0002841	Recurrent fungal infections
OMIM:102700	ADA	100	HP:0002014	Diarrhea
OMIM:102700	ADA	100	HP:0000246	Sinusitis
OMIM:102700	ADA	100	HP:0001508	Failure to thrive
OMIM:102700	ADA	100	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:102700	ADA	100	HP:0000007	Autosomal recessive inheritance
OMIM:102700	ADA	100	HP:0002240	Hepatomegaly
OMIM:102700	ADA	100	HP:0002090	Pneumonia
OMIM:102700	ADA	100	HP:0004429	Recurrent viral infections
OMIM:102700	ADA	100	HP:0005365	Severe B lymphocytopenia
OMIM:102700	ADA	100	HP:0002718	Recurrent bacterial infections
OMIM:102700	ADA	100	HP:0001880	Eosinophilia
OMIM:102700	ADA	100	HP:0001744	Splenomegaly
OMIM:102700	ADA	100	HP:0000926	Platyspondyly
OMIM:102700	ADA	100	HP:0010976	B lymphocytopenia
OMIM:154275	RYR1	6261	HP:0002905	Hyperphosphatemia
OMIM:154275	RYR1	6261	HP:0003128	Lactic acidosis
OMIM:154275	RYR1	6261	HP:0001945	Fever
OMIM:154275	RYR1	6261	HP:0002153	Hyperkalemia
OMIM:154275	RYR1	6261	HP:0003198	Myopathy
OMIM:154275	RYR1	6261	HP:0003236	Elevated serum creatine phosphokinase
OMIM:154275	RYR1	6261	HP:0001425	Heterogeneous
OMIM:154275	CACNA1S	779	HP:0002905	Hyperphosphatemia
OMIM:154275	CACNA1S	779	HP:0003128	Lactic acidosis
OMIM:154275	CACNA1S	779	HP:0001945	Fever
OMIM:154275	CACNA1S	779	HP:0002153	Hyperkalemia
OMIM:154275	CACNA1S	779	HP:0003198	Myopathy
OMIM:154275	CACNA1S	779	HP:0003236	Elevated serum creatine phosphokinase
OMIM:154275	CACNA1S	779	HP:0001425	Heterogeneous
OMIM:613886	NTRK2	4915	HP:0011344	Severe global developmental delay
OMIM:613886	NTRK2	4915	HP:0001513	Obesity
OMIM:613886	NTRK2	4915	HP:0000006	Autosomal dominant inheritance
OMIM:133239	RNF6	6049	HP:0002017	Nausea and vomiting
OMIM:133239	RNF6	6049	HP:0001824	Weight loss
OMIM:133239	RNF6	6049	HP:0001608	Abnormality of the voice
OMIM:133239	RNF6	6049	HP:0100749	Chest pain
OMIM:133239	RNF6	6049	HP:0002716	Lymphadenopathy
OMIM:133239	RNF6	6049	HP:0002860	Squamous cell carcinoma
OMIM:133239	RNF6	6049	HP:0008872	Feeding difficulties in infancy
OMIM:133239	RNF6	6049	HP:0000006	Autosomal dominant inheritance
OMIM:133239	RNF6	6049	HP:0100751	Esophageal neoplasm
OMIM:133239	DEC1	50514	HP:0002017	Nausea and vomiting
OMIM:133239	DEC1	50514	HP:0001824	Weight loss
OMIM:133239	DEC1	50514	HP:0001608	Abnormality of the voice
OMIM:133239	DEC1	50514	HP:0100749	Chest pain
OMIM:133239	DEC1	50514	HP:0002716	Lymphadenopathy
OMIM:133239	DEC1	50514	HP:0002860	Squamous cell carcinoma
OMIM:133239	DEC1	50514	HP:0008872	Feeding difficulties in infancy
OMIM:133239	DEC1	50514	HP:0000006	Autosomal dominant inheritance
OMIM:133239	DEC1	50514	HP:0100751	Esophageal neoplasm
OMIM:133239	DLEC1	9940	HP:0002017	Nausea and vomiting
OMIM:133239	DLEC1	9940	HP:0001824	Weight loss
OMIM:133239	DLEC1	9940	HP:0001608	Abnormality of the voice
OMIM:133239	DLEC1	9940	HP:0100749	Chest pain
OMIM:133239	DLEC1	9940	HP:0002716	Lymphadenopathy
OMIM:133239	DLEC1	9940	HP:0002860	Squamous cell carcinoma
OMIM:133239	DLEC1	9940	HP:0008872	Feeding difficulties in infancy
OMIM:133239	DLEC1	9940	HP:0000006	Autosomal dominant inheritance
OMIM:133239	DLEC1	9940	HP:0100751	Esophageal neoplasm
OMIM:133239	TGFBR2	7048	HP:0002017	Nausea and vomiting
OMIM:133239	TGFBR2	7048	HP:0001824	Weight loss
OMIM:133239	TGFBR2	7048	HP:0001608	Abnormality of the voice
OMIM:133239	TGFBR2	7048	HP:0100749	Chest pain
OMIM:133239	TGFBR2	7048	HP:0002716	Lymphadenopathy
OMIM:133239	TGFBR2	7048	HP:0002860	Squamous cell carcinoma
OMIM:133239	TGFBR2	7048	HP:0008872	Feeding difficulties in infancy
OMIM:133239	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:133239	TGFBR2	7048	HP:0100751	Esophageal neoplasm
OMIM:133239	LZTS1	11178	HP:0002017	Nausea and vomiting
OMIM:133239	LZTS1	11178	HP:0001824	Weight loss
OMIM:133239	LZTS1	11178	HP:0001608	Abnormality of the voice
OMIM:133239	LZTS1	11178	HP:0100749	Chest pain
OMIM:133239	LZTS1	11178	HP:0002716	Lymphadenopathy
OMIM:133239	LZTS1	11178	HP:0002860	Squamous cell carcinoma
OMIM:133239	LZTS1	11178	HP:0008872	Feeding difficulties in infancy
OMIM:133239	LZTS1	11178	HP:0000006	Autosomal dominant inheritance
OMIM:133239	LZTS1	11178	HP:0100751	Esophageal neoplasm
OMIM:133239	WWOX	51741	HP:0002017	Nausea and vomiting
OMIM:133239	WWOX	51741	HP:0001824	Weight loss
OMIM:133239	WWOX	51741	HP:0001608	Abnormality of the voice
OMIM:133239	WWOX	51741	HP:0100749	Chest pain
OMIM:133239	WWOX	51741	HP:0002716	Lymphadenopathy
OMIM:133239	WWOX	51741	HP:0002860	Squamous cell carcinoma
OMIM:133239	WWOX	51741	HP:0008872	Feeding difficulties in infancy
OMIM:133239	WWOX	51741	HP:0000006	Autosomal dominant inheritance
OMIM:133239	WWOX	51741	HP:0100751	Esophageal neoplasm
OMIM:133239	DCC	1630	HP:0002017	Nausea and vomiting
OMIM:133239	DCC	1630	HP:0001824	Weight loss
OMIM:133239	DCC	1630	HP:0001608	Abnormality of the voice
OMIM:133239	DCC	1630	HP:0100749	Chest pain
OMIM:133239	DCC	1630	HP:0002716	Lymphadenopathy
OMIM:133239	DCC	1630	HP:0002860	Squamous cell carcinoma
OMIM:133239	DCC	1630	HP:0008872	Feeding difficulties in infancy
OMIM:133239	DCC	1630	HP:0000006	Autosomal dominant inheritance
OMIM:133239	DCC	1630	HP:0100751	Esophageal neoplasm
OMIM:239300	PIGO	84720	HP:0000316	Hypertelorism
OMIM:239300	PIGO	84720	HP:0000582	Upslanted palpebral fissure
OMIM:239300	PIGO	84720	HP:0009882	Short distal phalanx of finger
OMIM:239300	PIGO	84720	HP:0000322	Short philtrum
OMIM:239300	PIGO	84720	HP:0002251	Aganglionic megacolon
OMIM:239300	PIGO	84720	HP:0000219	Thin upper lip vermilion
OMIM:239300	PIGO	84720	HP:0001182	Tapered finger
OMIM:239300	PIGO	84720	HP:0002714	Downturned corners of mouth
OMIM:239300	PIGO	84720	HP:0001357	Plagiocephaly
OMIM:239300	PIGO	84720	HP:0010804	Tented upper lip vermilion
OMIM:239300	PIGO	84720	HP:0000303	Mandibular prognathia
OMIM:239300	PIGO	84720	HP:0000431	Wide nasal bridge
OMIM:239300	PIGO	84720	HP:0001252	Muscular hypotonia
OMIM:239300	PIGO	84720	HP:0002553	Highly arched eyebrow
OMIM:239300	PIGO	84720	HP:0000358	Posteriorly rotated ears
OMIM:239300	PIGO	84720	HP:0000455	Broad nasal tip
OMIM:239300	PIGO	84720	HP:0001792	Small nail
OMIM:239300	PIGO	84720	HP:0000204	Cleft upper lip
OMIM:239300	PIGO	84720	HP:0000407	Sensorineural hearing impairment
OMIM:239300	PIGO	84720	HP:0000272	Malar flattening
OMIM:239300	PIGO	84720	HP:0001344	Absent speech
OMIM:239300	PIGO	84720	HP:0001216	Delayed ossification of carpal bones
OMIM:239300	PIGO	84720	HP:0000238	Hydrocephalus
OMIM:239300	PIGO	84720	HP:0001250	Seizures
OMIM:239300	PIGO	84720	HP:0010864	Intellectual disability, severe
OMIM:239300	PIGO	84720	HP:0002019	Constipation
OMIM:239300	PIGO	84720	HP:0001090	Large eyes
OMIM:239300	PIGO	84720	HP:0001831	Short toe
OMIM:239300	PIGO	84720	HP:0001249	Intellectual disability
OMIM:239300	PIGO	84720	HP:0011800	Hypoplasia of midface
OMIM:239300	PIGO	84720	HP:0000007	Autosomal recessive inheritance
OMIM:239300	PIGO	84720	HP:0000175	Cleft palate
OMIM:239300	PIGV	55650	HP:0000316	Hypertelorism
OMIM:239300	PIGV	55650	HP:0000582	Upslanted palpebral fissure
OMIM:239300	PIGV	55650	HP:0009882	Short distal phalanx of finger
OMIM:239300	PIGV	55650	HP:0000322	Short philtrum
OMIM:239300	PIGV	55650	HP:0002251	Aganglionic megacolon
OMIM:239300	PIGV	55650	HP:0000219	Thin upper lip vermilion
OMIM:239300	PIGV	55650	HP:0001182	Tapered finger
OMIM:239300	PIGV	55650	HP:0002714	Downturned corners of mouth
OMIM:239300	PIGV	55650	HP:0001357	Plagiocephaly
OMIM:239300	PIGV	55650	HP:0010804	Tented upper lip vermilion
OMIM:239300	PIGV	55650	HP:0000303	Mandibular prognathia
OMIM:239300	PIGV	55650	HP:0000431	Wide nasal bridge
OMIM:239300	PIGV	55650	HP:0001252	Muscular hypotonia
OMIM:239300	PIGV	55650	HP:0002553	Highly arched eyebrow
OMIM:239300	PIGV	55650	HP:0000358	Posteriorly rotated ears
OMIM:239300	PIGV	55650	HP:0000455	Broad nasal tip
OMIM:239300	PIGV	55650	HP:0001792	Small nail
OMIM:239300	PIGV	55650	HP:0000204	Cleft upper lip
OMIM:239300	PIGV	55650	HP:0000407	Sensorineural hearing impairment
OMIM:239300	PIGV	55650	HP:0000272	Malar flattening
OMIM:239300	PIGV	55650	HP:0001344	Absent speech
OMIM:239300	PIGV	55650	HP:0001216	Delayed ossification of carpal bones
OMIM:239300	PIGV	55650	HP:0000238	Hydrocephalus
OMIM:239300	PIGV	55650	HP:0001250	Seizures
OMIM:239300	PIGV	55650	HP:0010864	Intellectual disability, severe
OMIM:239300	PIGV	55650	HP:0002019	Constipation
OMIM:239300	PIGV	55650	HP:0001090	Large eyes
OMIM:239300	PIGV	55650	HP:0001831	Short toe
OMIM:239300	PIGV	55650	HP:0001249	Intellectual disability
OMIM:239300	PIGV	55650	HP:0011800	Hypoplasia of midface
OMIM:239300	PIGV	55650	HP:0000007	Autosomal recessive inheritance
OMIM:239300	PIGV	55650	HP:0000175	Cleft palate
OMIM:239300	PGAP2	27315	HP:0000316	Hypertelorism
OMIM:239300	PGAP2	27315	HP:0000582	Upslanted palpebral fissure
OMIM:239300	PGAP2	27315	HP:0009882	Short distal phalanx of finger
OMIM:239300	PGAP2	27315	HP:0000322	Short philtrum
OMIM:239300	PGAP2	27315	HP:0002251	Aganglionic megacolon
OMIM:239300	PGAP2	27315	HP:0000219	Thin upper lip vermilion
OMIM:239300	PGAP2	27315	HP:0001182	Tapered finger
OMIM:239300	PGAP2	27315	HP:0002714	Downturned corners of mouth
OMIM:239300	PGAP2	27315	HP:0001357	Plagiocephaly
OMIM:239300	PGAP2	27315	HP:0010804	Tented upper lip vermilion
OMIM:239300	PGAP2	27315	HP:0000303	Mandibular prognathia
OMIM:239300	PGAP2	27315	HP:0000431	Wide nasal bridge
OMIM:239300	PGAP2	27315	HP:0001252	Muscular hypotonia
OMIM:239300	PGAP2	27315	HP:0002553	Highly arched eyebrow
OMIM:239300	PGAP2	27315	HP:0000358	Posteriorly rotated ears
OMIM:239300	PGAP2	27315	HP:0000455	Broad nasal tip
OMIM:239300	PGAP2	27315	HP:0001792	Small nail
OMIM:239300	PGAP2	27315	HP:0000204	Cleft upper lip
OMIM:239300	PGAP2	27315	HP:0000407	Sensorineural hearing impairment
OMIM:239300	PGAP2	27315	HP:0000272	Malar flattening
OMIM:239300	PGAP2	27315	HP:0001344	Absent speech
OMIM:239300	PGAP2	27315	HP:0001216	Delayed ossification of carpal bones
OMIM:239300	PGAP2	27315	HP:0000238	Hydrocephalus
OMIM:239300	PGAP2	27315	HP:0001250	Seizures
OMIM:239300	PGAP2	27315	HP:0010864	Intellectual disability, severe
OMIM:239300	PGAP2	27315	HP:0002019	Constipation
OMIM:239300	PGAP2	27315	HP:0001090	Large eyes
OMIM:239300	PGAP2	27315	HP:0001831	Short toe
OMIM:239300	PGAP2	27315	HP:0001249	Intellectual disability
OMIM:239300	PGAP2	27315	HP:0011800	Hypoplasia of midface
OMIM:239300	PGAP2	27315	HP:0000007	Autosomal recessive inheritance
OMIM:239300	PGAP2	27315	HP:0000175	Cleft palate
OMIM:239300	PIGW	284098	HP:0000316	Hypertelorism
OMIM:239300	PIGW	284098	HP:0000582	Upslanted palpebral fissure
OMIM:239300	PIGW	284098	HP:0009882	Short distal phalanx of finger
OMIM:239300	PIGW	284098	HP:0000322	Short philtrum
OMIM:239300	PIGW	284098	HP:0002251	Aganglionic megacolon
OMIM:239300	PIGW	284098	HP:0000219	Thin upper lip vermilion
OMIM:239300	PIGW	284098	HP:0001182	Tapered finger
OMIM:239300	PIGW	284098	HP:0002714	Downturned corners of mouth
OMIM:239300	PIGW	284098	HP:0001357	Plagiocephaly
OMIM:239300	PIGW	284098	HP:0010804	Tented upper lip vermilion
OMIM:239300	PIGW	284098	HP:0000303	Mandibular prognathia
OMIM:239300	PIGW	284098	HP:0000431	Wide nasal bridge
OMIM:239300	PIGW	284098	HP:0001252	Muscular hypotonia
OMIM:239300	PIGW	284098	HP:0002553	Highly arched eyebrow
OMIM:239300	PIGW	284098	HP:0000358	Posteriorly rotated ears
OMIM:239300	PIGW	284098	HP:0000455	Broad nasal tip
OMIM:239300	PIGW	284098	HP:0001792	Small nail
OMIM:239300	PIGW	284098	HP:0000204	Cleft upper lip
OMIM:239300	PIGW	284098	HP:0000407	Sensorineural hearing impairment
OMIM:239300	PIGW	284098	HP:0000272	Malar flattening
OMIM:239300	PIGW	284098	HP:0001344	Absent speech
OMIM:239300	PIGW	284098	HP:0001216	Delayed ossification of carpal bones
OMIM:239300	PIGW	284098	HP:0000238	Hydrocephalus
OMIM:239300	PIGW	284098	HP:0001250	Seizures
OMIM:239300	PIGW	284098	HP:0010864	Intellectual disability, severe
OMIM:239300	PIGW	284098	HP:0002019	Constipation
OMIM:239300	PIGW	284098	HP:0001090	Large eyes
OMIM:239300	PIGW	284098	HP:0001831	Short toe
OMIM:239300	PIGW	284098	HP:0001249	Intellectual disability
OMIM:239300	PIGW	284098	HP:0011800	Hypoplasia of midface
OMIM:239300	PIGW	284098	HP:0000007	Autosomal recessive inheritance
OMIM:239300	PIGW	284098	HP:0000175	Cleft palate
OMIM:239300	PGAP3	93210	HP:0000316	Hypertelorism
OMIM:239300	PGAP3	93210	HP:0000582	Upslanted palpebral fissure
OMIM:239300	PGAP3	93210	HP:0009882	Short distal phalanx of finger
OMIM:239300	PGAP3	93210	HP:0000322	Short philtrum
OMIM:239300	PGAP3	93210	HP:0002251	Aganglionic megacolon
OMIM:239300	PGAP3	93210	HP:0000219	Thin upper lip vermilion
OMIM:239300	PGAP3	93210	HP:0001182	Tapered finger
OMIM:239300	PGAP3	93210	HP:0002714	Downturned corners of mouth
OMIM:239300	PGAP3	93210	HP:0001357	Plagiocephaly
OMIM:239300	PGAP3	93210	HP:0010804	Tented upper lip vermilion
OMIM:239300	PGAP3	93210	HP:0000303	Mandibular prognathia
OMIM:239300	PGAP3	93210	HP:0000431	Wide nasal bridge
OMIM:239300	PGAP3	93210	HP:0001252	Muscular hypotonia
OMIM:239300	PGAP3	93210	HP:0002553	Highly arched eyebrow
OMIM:239300	PGAP3	93210	HP:0000358	Posteriorly rotated ears
OMIM:239300	PGAP3	93210	HP:0000455	Broad nasal tip
OMIM:239300	PGAP3	93210	HP:0001792	Small nail
OMIM:239300	PGAP3	93210	HP:0000204	Cleft upper lip
OMIM:239300	PGAP3	93210	HP:0000407	Sensorineural hearing impairment
OMIM:239300	PGAP3	93210	HP:0000272	Malar flattening
OMIM:239300	PGAP3	93210	HP:0001344	Absent speech
OMIM:239300	PGAP3	93210	HP:0001216	Delayed ossification of carpal bones
OMIM:239300	PGAP3	93210	HP:0000238	Hydrocephalus
OMIM:239300	PGAP3	93210	HP:0001250	Seizures
OMIM:239300	PGAP3	93210	HP:0010864	Intellectual disability, severe
OMIM:239300	PGAP3	93210	HP:0002019	Constipation
OMIM:239300	PGAP3	93210	HP:0001090	Large eyes
OMIM:239300	PGAP3	93210	HP:0001831	Short toe
OMIM:239300	PGAP3	93210	HP:0001249	Intellectual disability
OMIM:239300	PGAP3	93210	HP:0011800	Hypoplasia of midface
OMIM:239300	PGAP3	93210	HP:0000007	Autosomal recessive inheritance
OMIM:239300	PGAP3	93210	HP:0000175	Cleft palate
OMIM:239300	PIGL	9487	HP:0000316	Hypertelorism
OMIM:239300	PIGL	9487	HP:0000582	Upslanted palpebral fissure
OMIM:239300	PIGL	9487	HP:0009882	Short distal phalanx of finger
OMIM:239300	PIGL	9487	HP:0000322	Short philtrum
OMIM:239300	PIGL	9487	HP:0002251	Aganglionic megacolon
OMIM:239300	PIGL	9487	HP:0000219	Thin upper lip vermilion
OMIM:239300	PIGL	9487	HP:0001182	Tapered finger
OMIM:239300	PIGL	9487	HP:0002714	Downturned corners of mouth
OMIM:239300	PIGL	9487	HP:0001357	Plagiocephaly
OMIM:239300	PIGL	9487	HP:0010804	Tented upper lip vermilion
OMIM:239300	PIGL	9487	HP:0000303	Mandibular prognathia
OMIM:239300	PIGL	9487	HP:0000431	Wide nasal bridge
OMIM:239300	PIGL	9487	HP:0001252	Muscular hypotonia
OMIM:239300	PIGL	9487	HP:0002553	Highly arched eyebrow
OMIM:239300	PIGL	9487	HP:0000358	Posteriorly rotated ears
OMIM:239300	PIGL	9487	HP:0000455	Broad nasal tip
OMIM:239300	PIGL	9487	HP:0001792	Small nail
OMIM:239300	PIGL	9487	HP:0000204	Cleft upper lip
OMIM:239300	PIGL	9487	HP:0000407	Sensorineural hearing impairment
OMIM:239300	PIGL	9487	HP:0000272	Malar flattening
OMIM:239300	PIGL	9487	HP:0001344	Absent speech
OMIM:239300	PIGL	9487	HP:0001216	Delayed ossification of carpal bones
OMIM:239300	PIGL	9487	HP:0000238	Hydrocephalus
OMIM:239300	PIGL	9487	HP:0001250	Seizures
OMIM:239300	PIGL	9487	HP:0010864	Intellectual disability, severe
OMIM:239300	PIGL	9487	HP:0002019	Constipation
OMIM:239300	PIGL	9487	HP:0001090	Large eyes
OMIM:239300	PIGL	9487	HP:0001831	Short toe
OMIM:239300	PIGL	9487	HP:0001249	Intellectual disability
OMIM:239300	PIGL	9487	HP:0011800	Hypoplasia of midface
OMIM:239300	PIGL	9487	HP:0000007	Autosomal recessive inheritance
OMIM:239300	PIGL	9487	HP:0000175	Cleft palate
OMIM:610498	MRPS16	51021	HP:0002151	Increased serum lactate
OMIM:610498	MRPS16	51021	HP:0001254	Lethargy
OMIM:610498	MRPS16	51021	HP:0000969	Edema
OMIM:610498	MRPS16	51021	HP:0001643	Patent ductus arteriosus
OMIM:610498	MRPS16	51021	HP:0000007	Autosomal recessive inheritance
OMIM:610498	MRPS16	51021	HP:0001518	Small for gestational age
OMIM:610498	MRPS16	51021	HP:0001319	Neonatal hypotonia
OMIM:610498	MRPS16	51021	HP:0008872	Feeding difficulties in infancy
OMIM:610498	MRPS16	51021	HP:0000369	Low-set ears
OMIM:610498	MRPS16	51021	HP:0001156	Brachydactyly syndrome
OMIM:610498	MRPS16	51021	HP:0002910	Elevated hepatic transaminases
OMIM:610498	MRPS16	51021	HP:0001274	Agenesis of corpus callosum
OMIM:610498	MRPS16	51021	HP:0001999	Abnormal facial shape
OMIM:610498	MRPS16	51021	HP:0002119	Ventriculomegaly
OMIM:610498	MRPS16	51021	HP:0003577	Congenital onset
OMIM:610498	MRPS16	51021	HP:0003128	Lactic acidosis
OMIM:275200	TSHR	7253	HP:0002019	Constipation
OMIM:275200	TSHR	7253	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:275200	TSHR	7253	HP:0002360	Sleep disturbance
OMIM:275200	TSHR	7253	HP:0000007	Autosomal recessive inheritance
OMIM:275200	TSHR	7253	HP:0001608	Abnormality of the voice
OMIM:275200	TSHR	7253	HP:0001392	Abnormality of the liver
OMIM:275200	TSHR	7253	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:275200	TSHR	7253	HP:0001537	Umbilical hernia
OMIM:275200	TSHR	7253	HP:0001252	Muscular hypotonia
OMIM:275200	TSHR	7253	HP:0000157	Abnormality of the tongue
OMIM:275200	TSHR	7253	HP:0000821	Hypothyroidism
OMIM:275200	TSHR	7253	HP:0003593	Infantile onset
OMIM:300030	COL4A6	1288	HP:0001419	X-linked recessive inheritance
OMIM:300030	COL4A6	1288	HP:0008527	Congenital sensorineural hearing impairment
OMIM:300030	SMPX	23676	HP:0001419	X-linked recessive inheritance
OMIM:300030	SMPX	23676	HP:0008527	Congenital sensorineural hearing impairment
OMIM:300030	PRPS1	5631	HP:0001419	X-linked recessive inheritance
OMIM:300030	PRPS1	5631	HP:0008527	Congenital sensorineural hearing impairment
OMIM:118210	KIF1B	23095	HP:0003693	Distal amyotrophy
OMIM:118210	KIF1B	23095	HP:0009027	Foot dorsiflexor weakness
OMIM:118210	KIF1B	23095	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:118210	KIF1B	23095	HP:0003677	Slow progression
OMIM:118210	KIF1B	23095	HP:0000006	Autosomal dominant inheritance
OMIM:118210	KIF1B	23095	HP:0001765	Hammertoe
OMIM:118210	KIF1B	23095	HP:0002936	Distal sensory impairment
OMIM:118210	KIF1B	23095	HP:0003431	Decreased motor nerve conduction velocity
OMIM:118210	KIF1B	23095	HP:0001425	Heterogeneous
OMIM:118210	KIF1B	23095	HP:0001761	Pes cavus
OMIM:118210	KIF1B	23095	HP:0001265	Hyporeflexia
OMIM:118210	KIF1B	23095	HP:0003376	Steppage gait
OMIM:118210	KIF1B	23095	HP:0003674	Onset
OMIM:118210	KIF1B	23095	HP:0002460	Distal muscle weakness
OMIM:118210	KIF1B	23095	HP:0003383	Onion bulb formation
OMIM:118210	KIF1B	23095	HP:0001284	Areflexia
OMIM:228900	BMPR1B	658	HP:0008368	Tarsal synostosis
OMIM:228900	BMPR1B	658	HP:0002997	Abnormality of the ulna
OMIM:228900	BMPR1B	658	HP:0005048	Synostosis of carpal bones
OMIM:228900	BMPR1B	658	HP:0002983	Micromelia
OMIM:228900	BMPR1B	658	HP:0000954	Single transverse palmar crease
OMIM:228900	BMPR1B	658	HP:0000007	Autosomal recessive inheritance
OMIM:228900	BMPR1B	658	HP:0001156	Brachydactyly syndrome
OMIM:228900	BMPR1B	658	HP:0010760	Absent toe
OMIM:228900	BMPR1B	658	HP:0003272	Abnormality of the hip bone
OMIM:228900	BMPR1B	658	HP:0002992	Abnormality of the tibia
OMIM:228900	BMPR1B	658	HP:0010049	Short metacarpal
OMIM:228900	BMPR1B	658	HP:0004322	Short stature
OMIM:228900	BMPR1B	658	HP:0005930	Abnormality of epiphysis morphology
OMIM:228900	BMPR1B	658	HP:0010743	Short metatarsal
OMIM:228900	BMPR1B	658	HP:0003038	Fibular hypoplasia
OMIM:228900	BMPR1B	658	HP:0001792	Small nail
OMIM:228900	BMPR1B	658	HP:0001172	Abnormality of the thumb
OMIM:228900	BMPR1B	658	HP:0010624	Aplastic/hypoplastic toenail
OMIM:228900	BMPR1B	658	HP:0002999	Patellar dislocation
OMIM:228900	BMPR1B	658	HP:0000446	Narrow nasal bridge
OMIM:228900	BMPR1B	658	HP:0004097	Deviation of finger
OMIM:228900	BMPR1B	658	HP:0001376	Limitation of joint mobility
OMIM:228900	BMPR1B	658	HP:0008905	Rhizomelia
OMIM:228900	BMPR1B	658	HP:0009803	Short phalanx of finger
OMIM:228900	BMPR1B	658	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:228900	GDF5	8200	HP:0008368	Tarsal synostosis
OMIM:228900	GDF5	8200	HP:0002997	Abnormality of the ulna
OMIM:228900	GDF5	8200	HP:0005048	Synostosis of carpal bones
OMIM:228900	GDF5	8200	HP:0002983	Micromelia
OMIM:228900	GDF5	8200	HP:0000954	Single transverse palmar crease
OMIM:228900	GDF5	8200	HP:0000007	Autosomal recessive inheritance
OMIM:228900	GDF5	8200	HP:0001156	Brachydactyly syndrome
OMIM:228900	GDF5	8200	HP:0010760	Absent toe
OMIM:228900	GDF5	8200	HP:0003272	Abnormality of the hip bone
OMIM:228900	GDF5	8200	HP:0002992	Abnormality of the tibia
OMIM:228900	GDF5	8200	HP:0010049	Short metacarpal
OMIM:228900	GDF5	8200	HP:0004322	Short stature
OMIM:228900	GDF5	8200	HP:0005930	Abnormality of epiphysis morphology
OMIM:228900	GDF5	8200	HP:0010743	Short metatarsal
OMIM:228900	GDF5	8200	HP:0003038	Fibular hypoplasia
OMIM:228900	GDF5	8200	HP:0001792	Small nail
OMIM:228900	GDF5	8200	HP:0001172	Abnormality of the thumb
OMIM:228900	GDF5	8200	HP:0010624	Aplastic/hypoplastic toenail
OMIM:228900	GDF5	8200	HP:0002999	Patellar dislocation
OMIM:228900	GDF5	8200	HP:0000446	Narrow nasal bridge
OMIM:228900	GDF5	8200	HP:0004097	Deviation of finger
OMIM:228900	GDF5	8200	HP:0001376	Limitation of joint mobility
OMIM:228900	GDF5	8200	HP:0008905	Rhizomelia
OMIM:228900	GDF5	8200	HP:0009803	Short phalanx of finger
OMIM:228900	GDF5	8200	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:601382	MTMR2	8898	HP:0002650	Scoliosis
OMIM:601382	MTMR2	8898	HP:0010628	Facial palsy
OMIM:601382	MTMR2	8898	HP:0002460	Distal muscle weakness
OMIM:601382	MTMR2	8898	HP:0002936	Distal sensory impairment
OMIM:601382	MTMR2	8898	HP:0006958	Abnormal auditory evoked potentials
OMIM:601382	MTMR2	8898	HP:0003431	Decreased motor nerve conduction velocity
OMIM:601382	MTMR2	8898	HP:0003693	Distal amyotrophy
OMIM:601382	MTMR2	8898	HP:0000007	Autosomal recessive inheritance
OMIM:601382	MTMR2	8898	HP:0001270	Motor delay
OMIM:601382	MTMR2	8898	HP:0001762	Talipes equinovarus
OMIM:601382	MTMR2	8898	HP:0003701	Proximal muscle weakness
OMIM:607017	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:607017	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:607017	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:607017	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:607017	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:607017	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:607017	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:607017	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:607017	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:607017	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:607017	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:607017	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:607017	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:607017	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:607017	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:607017	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:607017	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:607017	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:607017	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:607017	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:607017	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:607017	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:607017	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:607017	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:607017	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:607017	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:607017	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:607017	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:607017	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:607017	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:607017	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:607017	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:607017	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:607017	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:607017	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:607017	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:607017	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:607017	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:607017	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:607017	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:607017	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:607017	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:607017	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:607017	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:607017	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:607017	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:607017	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:607017	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:607017	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:607017	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:607017	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:607017	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:607017	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:607017	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:607017	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:607017	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:607017	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:607017	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:607017	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:607017	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:607017	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:607017	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:607017	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:607017	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:607017	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:607017	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:607017	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:607017	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:607017	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:607017	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:269000	ESCO2	157570	HP:0009466	Radial deviation of finger
OMIM:269000	ESCO2	157570	HP:0000347	Micrognathia
OMIM:269000	ESCO2	157570	HP:0009778	Short thumb
OMIM:269000	ESCO2	157570	HP:0000430	Underdeveloped nasal alae
OMIM:269000	ESCO2	157570	HP:0001650	Aortic valve stenosis
OMIM:269000	ESCO2	157570	HP:0000592	Blue sclerae
OMIM:269000	ESCO2	157570	HP:0003974	Absent radius
OMIM:269000	ESCO2	157570	HP:0000252	Microcephaly
OMIM:269000	ESCO2	157570	HP:0030084	Clinodactyly
OMIM:269000	ESCO2	157570	HP:0000358	Posteriorly rotated ears
OMIM:269000	ESCO2	157570	HP:0006380	Knee flexion contracture
OMIM:269000	ESCO2	157570	HP:0001511	Intrauterine growth retardation
OMIM:269000	ESCO2	157570	HP:0000204	Cleft upper lip
OMIM:269000	ESCO2	157570	HP:0002645	Wormian bones
OMIM:269000	ESCO2	157570	HP:0003273	Hip contracture
OMIM:269000	ESCO2	157570	HP:0001263	Global developmental delay
OMIM:269000	ESCO2	157570	HP:0001250	Seizures
OMIM:269000	ESCO2	157570	HP:0008070	Sparse hair
OMIM:269000	ESCO2	157570	HP:0004322	Short stature
OMIM:269000	ESCO2	157570	HP:0000007	Autosomal recessive inheritance
OMIM:613464	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613464	RLBP1	6017	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613464	RLBP1	6017	HP:0000505	Visual impairment
OMIM:613464	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613464	SPATA7	55812	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613464	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613464	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613464	ARL6	84100	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613464	ARL6	84100	HP:0000505	Visual impairment
OMIM:613464	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613464	CERKL	375298	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613464	CERKL	375298	HP:0000505	Visual impairment
OMIM:613464	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613464	TTC8	123016	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613464	TTC8	123016	HP:0000505	Visual impairment
OMIM:613464	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613464	PRPF31	26121	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613464	PRPF31	26121	HP:0000505	Visual impairment
OMIM:613464	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613464	PROM1	8842	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613464	PROM1	8842	HP:0000505	Visual impairment
OMIM:613464	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613464	LRAT	9227	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613464	LRAT	9227	HP:0000505	Visual impairment
OMIM:613464	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613464	IFT140	9742	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613464	IFT140	9742	HP:0000505	Visual impairment
OMIM:613464	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613464	BEST1	7439	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613464	BEST1	7439	HP:0000505	Visual impairment
OMIM:613464	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613464	NEK2	4751	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613464	NEK2	4751	HP:0000505	Visual impairment
OMIM:613464	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613464	ARL2BP	23568	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613464	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:613464	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613464	NR2E3	10002	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613464	NR2E3	10002	HP:0000505	Visual impairment
OMIM:613464	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613464	EYS	346007	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613464	EYS	346007	HP:0000505	Visual impairment
OMIM:613464	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613464	MAK	4117	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613464	MAK	4117	HP:0000505	Visual impairment
OMIM:613464	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613464	SAG	6295	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613464	SAG	6295	HP:0000505	Visual impairment
OMIM:613464	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613464	ABCA4	24	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613464	ABCA4	24	HP:0000505	Visual impairment
OMIM:613464	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613464	PDE6A	5145	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613464	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613464	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613464	PDE6G	5148	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613464	PDE6G	5148	HP:0000505	Visual impairment
OMIM:613464	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613464	IMPDH1	3614	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613464	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613464	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613464	OFD1	8481	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613464	OFD1	8481	HP:0000505	Visual impairment
OMIM:613464	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613464	GUCA1B	2979	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613464	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613464	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613464	NRL	4901	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613464	NRL	4901	HP:0000505	Visual impairment
OMIM:613464	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613464	PDE6B	5158	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613464	PDE6B	5158	HP:0000505	Visual impairment
OMIM:613464	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613464	KLHL7	55975	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613464	KLHL7	55975	HP:0000505	Visual impairment
OMIM:613464	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613464	PRPF4	9128	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613464	PRPF4	9128	HP:0000505	Visual impairment
OMIM:613464	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613464	PRPF3	9129	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613464	PRPF3	9129	HP:0000505	Visual impairment
OMIM:613464	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613464	FAM161A	84140	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613464	FAM161A	84140	HP:0000505	Visual impairment
OMIM:613464	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613464	IFT172	26160	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613464	IFT172	26160	HP:0000505	Visual impairment
OMIM:613464	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613464	KIZ	55857	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613464	KIZ	55857	HP:0000505	Visual impairment
OMIM:613464	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613464	CDHR1	92211	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613464	CDHR1	92211	HP:0000505	Visual impairment
OMIM:613464	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613464	ZNF408	79797	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613464	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613464	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613464	RBP3	5949	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613464	RBP3	5949	HP:0000505	Visual impairment
OMIM:613464	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613464	HGSNAT	138050	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613464	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:613464	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613464	FSCN2	25794	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613464	FSCN2	25794	HP:0000505	Visual impairment
OMIM:613464	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613464	PRCD	768206	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613464	PRCD	768206	HP:0000505	Visual impairment
OMIM:613464	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613464	BBS2	583	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613464	BBS2	583	HP:0000505	Visual impairment
OMIM:613464	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613464	RDH12	145226	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613464	RDH12	145226	HP:0000505	Visual impairment
OMIM:613464	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613464	PRPH2	5961	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613464	PRPH2	5961	HP:0000505	Visual impairment
OMIM:613464	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613464	DHDDS	79947	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613464	DHDDS	79947	HP:0000505	Visual impairment
OMIM:613464	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613464	ROM1	6094	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613464	ROM1	6094	HP:0000505	Visual impairment
OMIM:613464	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613464	C2ORF71	388939	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613464	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613464	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613464	RP9	6100	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613464	RP9	6100	HP:0000505	Visual impairment
OMIM:613464	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613464	PRPF6	24148	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613464	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613464	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613464	RP1	6101	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613464	RP1	6101	HP:0000505	Visual impairment
OMIM:613464	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613464	RP2	6102	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613464	RP2	6102	HP:0000505	Visual impairment
OMIM:613464	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613464	RPGR	6103	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613464	RPGR	6103	HP:0000505	Visual impairment
OMIM:613464	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613464	SEMA4A	64218	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613464	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:613464	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613464	C8ORF37	157657	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613464	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:613464	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613464	IDH3B	3420	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613464	IDH3B	3420	HP:0000505	Visual impairment
OMIM:613464	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613464	MERTK	10461	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613464	MERTK	10461	HP:0000505	Visual impairment
OMIM:613464	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613464	PRPF8	10594	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613464	PRPF8	10594	HP:0000505	Visual impairment
OMIM:613464	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613464	TOPORS	10210	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613464	TOPORS	10210	HP:0000505	Visual impairment
OMIM:613464	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613464	USH2A	7399	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613464	USH2A	7399	HP:0000505	Visual impairment
OMIM:613464	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613464	RPE65	6121	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613464	RPE65	6121	HP:0000505	Visual impairment
OMIM:613464	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613464	CLRN1	7401	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613464	CLRN1	7401	HP:0000505	Visual impairment
OMIM:613464	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613464	CNGB1	1258	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613464	CNGB1	1258	HP:0000505	Visual impairment
OMIM:613464	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613464	RGR	5995	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613464	RGR	5995	HP:0000505	Visual impairment
OMIM:613464	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613464	CNGA1	1259	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613464	CNGA1	1259	HP:0000505	Visual impairment
OMIM:613464	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613464	TUB	7275	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613464	TUB	7275	HP:0000505	Visual impairment
OMIM:613464	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613464	SNRNP200	23020	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613464	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:613464	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613464	SLC7A14	57709	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613464	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:613464	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613464	TULP1	7287	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613464	TULP1	7287	HP:0000505	Visual impairment
OMIM:613464	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613464	RHO	6010	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613464	RHO	6010	HP:0000505	Visual impairment
OMIM:613464	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613464	CA4	762	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613464	CA4	762	HP:0000505	Visual impairment
OMIM:613464	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613464	CRB1	23418	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613464	CRB1	23418	HP:0000505	Visual impairment
OMIM:613464	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613464	IMPG2	50939	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613464	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613464	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613464	ZNF513	130557	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613464	ZNF513	130557	HP:0000505	Visual impairment
OMIM:613464	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613464	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:613464	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613464	CRX	1406	HP:0008323	Abnormal light- and dark-adapted electroretinogram
OMIM:613464	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613464	CRX	1406	HP:0000505	Visual impairment
OMIM:613464	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:600975	LTBP2	4053	HP:0000007	Autosomal recessive inheritance
OMIM:600975	CYP1B1	1545	HP:0000007	Autosomal recessive inheritance
OMIM:600975	MYOC	4653	HP:0000007	Autosomal recessive inheritance
OMIM:611277	STX1B	112755	HP:0000006	Autosomal dominant inheritance
OMIM:611277	STX1B	112755	HP:0002373	Febrile seizures
OMIM:611277	STX1B	112755	HP:0010819	Atonic seizures
OMIM:611277	STX1B	112755	HP:0007359	Focal seizures
OMIM:611277	STX1B	112755	HP:0002121	Absence seizures
OMIM:611277	STX1B	112755	HP:0002069	Generalized tonic-clonic seizures
OMIM:611277	STX1B	112755	HP:0003828	Variable expressivity
OMIM:611277	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:611277	SCN1A	6323	HP:0002373	Febrile seizures
OMIM:611277	SCN1A	6323	HP:0010819	Atonic seizures
OMIM:611277	SCN1A	6323	HP:0007359	Focal seizures
OMIM:611277	SCN1A	6323	HP:0002121	Absence seizures
OMIM:611277	SCN1A	6323	HP:0002069	Generalized tonic-clonic seizures
OMIM:611277	SCN1A	6323	HP:0003828	Variable expressivity
OMIM:611277	GABRD	2563	HP:0000006	Autosomal dominant inheritance
OMIM:611277	GABRD	2563	HP:0002373	Febrile seizures
OMIM:611277	GABRD	2563	HP:0010819	Atonic seizures
OMIM:611277	GABRD	2563	HP:0007359	Focal seizures
OMIM:611277	GABRD	2563	HP:0002121	Absence seizures
OMIM:611277	GABRD	2563	HP:0002069	Generalized tonic-clonic seizures
OMIM:611277	GABRD	2563	HP:0003828	Variable expressivity
OMIM:611277	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:611277	SCN1B	6324	HP:0002373	Febrile seizures
OMIM:611277	SCN1B	6324	HP:0010819	Atonic seizures
OMIM:611277	SCN1B	6324	HP:0007359	Focal seizures
OMIM:611277	SCN1B	6324	HP:0002121	Absence seizures
OMIM:611277	SCN1B	6324	HP:0002069	Generalized tonic-clonic seizures
OMIM:611277	SCN1B	6324	HP:0003828	Variable expressivity
OMIM:611277	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:611277	GABRG2	2566	HP:0002373	Febrile seizures
OMIM:611277	GABRG2	2566	HP:0010819	Atonic seizures
OMIM:611277	GABRG2	2566	HP:0007359	Focal seizures
OMIM:611277	GABRG2	2566	HP:0002121	Absence seizures
OMIM:611277	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:611277	GABRG2	2566	HP:0003828	Variable expressivity
OMIM:611277	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:611277	SCN2A	6326	HP:0002373	Febrile seizures
OMIM:611277	SCN2A	6326	HP:0010819	Atonic seizures
OMIM:611277	SCN2A	6326	HP:0007359	Focal seizures
OMIM:611277	SCN2A	6326	HP:0002121	Absence seizures
OMIM:611277	SCN2A	6326	HP:0002069	Generalized tonic-clonic seizures
OMIM:611277	SCN2A	6326	HP:0003828	Variable expressivity
OMIM:611277	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:611277	SCN9A	6335	HP:0002373	Febrile seizures
OMIM:611277	SCN9A	6335	HP:0010819	Atonic seizures
OMIM:611277	SCN9A	6335	HP:0007359	Focal seizures
OMIM:611277	SCN9A	6335	HP:0002121	Absence seizures
OMIM:611277	SCN9A	6335	HP:0002069	Generalized tonic-clonic seizures
OMIM:611277	SCN9A	6335	HP:0003828	Variable expressivity
OMIM:612290	HOXA2	3199	HP:0000175	Cleft palate
OMIM:612290	HOXA2	3199	HP:0000007	Autosomal recessive inheritance
OMIM:612290	HOXA2	3199	HP:0000006	Autosomal dominant inheritance
OMIM:612290	HOXA2	3199	HP:0008551	Microtia
OMIM:608232	BCR	613	HP:0004848	Ph-positive acute lymphoblastic leukemia
OMIM:608232	BCR	613	HP:0005506	Chronic myelogenous leukemia
OMIM:608232	BCR	613	HP:0001428	Somatic mutation
OMIM:608232	ABL1	25	HP:0004848	Ph-positive acute lymphoblastic leukemia
OMIM:608232	ABL1	25	HP:0005506	Chronic myelogenous leukemia
OMIM:608232	ABL1	25	HP:0001428	Somatic mutation
OMIM:608232	RUNX1	861	HP:0004848	Ph-positive acute lymphoblastic leukemia
OMIM:608232	RUNX1	861	HP:0005506	Chronic myelogenous leukemia
OMIM:608232	RUNX1	861	HP:0001428	Somatic mutation
OMIM:614504	CLRN1	7401	HP:0002194	Delayed gross motor development
OMIM:614504	CLRN1	7401	HP:0002078	Truncal ataxia
OMIM:614504	CLRN1	7401	HP:0000613	Photophobia
OMIM:614504	CLRN1	7401	HP:0000365	Hearing impairment
OMIM:614504	CLRN1	7401	HP:0000505	Visual impairment
OMIM:614504	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:614504	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:614504	HARS	3035	HP:0002194	Delayed gross motor development
OMIM:614504	HARS	3035	HP:0002078	Truncal ataxia
OMIM:614504	HARS	3035	HP:0000613	Photophobia
OMIM:614504	HARS	3035	HP:0000365	Hearing impairment
OMIM:614504	HARS	3035	HP:0000505	Visual impairment
OMIM:614504	HARS	3035	HP:0000543	Optic disc pallor
OMIM:614504	HARS	3035	HP:0000007	Autosomal recessive inheritance
OMIM:614504	TRNS2	4575	HP:0002194	Delayed gross motor development
OMIM:614504	TRNS2	4575	HP:0002078	Truncal ataxia
OMIM:614504	TRNS2	4575	HP:0000613	Photophobia
OMIM:614504	TRNS2	4575	HP:0000365	Hearing impairment
OMIM:614504	TRNS2	4575	HP:0000505	Visual impairment
OMIM:614504	TRNS2	4575	HP:0000543	Optic disc pallor
OMIM:614504	TRNS2	4575	HP:0000007	Autosomal recessive inheritance
OMIM:614665	GUCY2C	2984	HP:0000007	Autosomal recessive inheritance
OMIM:194050	TBL2	26608	HP:0000632	Lacrimation abnormality
OMIM:194050	TBL2	26608	HP:0000691	Microdontia
OMIM:194050	TBL2	26608	HP:0200021	Down-sloping shoulders
OMIM:194050	TBL2	26608	HP:0000212	Gingival overgrowth
OMIM:194050	TBL2	26608	HP:0002141	Gait imbalance
OMIM:194050	TBL2	26608	HP:0000121	Nephrocalcinosis
OMIM:194050	TBL2	26608	HP:0002311	Incoordination
OMIM:194050	TBL2	26608	HP:0004428	Elfin facies
OMIM:194050	TBL2	26608	HP:0002829	Arthralgia
OMIM:194050	TBL2	26608	HP:0005978	Type II diabetes mellitus
OMIM:194050	TBL2	26608	HP:0004306	Abnormality of the endocardium
OMIM:194050	TBL2	26608	HP:0000252	Microcephaly
OMIM:194050	TBL2	26608	HP:0001677	Coronary artery disease
OMIM:194050	TBL2	26608	HP:0004349	Reduced bone mineral density
OMIM:194050	TBL2	26608	HP:0001699	Sudden death
OMIM:194050	TBL2	26608	HP:0000157	Abnormality of the tongue
OMIM:194050	TBL2	26608	HP:0000505	Visual impairment
OMIM:194050	TBL2	26608	HP:0002205	Recurrent respiratory infections
OMIM:194050	TBL2	26608	HP:0000286	Epicanthus
OMIM:194050	TBL2	26608	HP:0007495	Prematurely aged appearance
OMIM:194050	TBL2	26608	HP:0010780	Hyperacusis
OMIM:194050	TBL2	26608	HP:0000076	Vesicoureteral reflux
OMIM:194050	TBL2	26608	HP:0000341	Narrow forehead
OMIM:194050	TBL2	26608	HP:0008770	Obsessive-compulsive trait
OMIM:194050	TBL2	26608	HP:0000581	Blepharophimosis
OMIM:194050	TBL2	26608	HP:0000601	Hypotelorism
OMIM:194050	TBL2	26608	HP:0004322	Short stature
OMIM:194050	TBL2	26608	HP:0005145	Coronary artery stenosis
OMIM:194050	TBL2	26608	HP:0000179	Thick lower lip vermilion
OMIM:194050	TBL2	26608	HP:0001634	Mitral valve prolapse
OMIM:194050	TBL2	26608	HP:0010662	Abnormality of the diencephalon
OMIM:194050	TBL2	26608	HP:0000388	Otitis media
OMIM:194050	TBL2	26608	HP:0001643	Patent ductus arteriosus
OMIM:194050	TBL2	26608	HP:0000343	Long philtrum
OMIM:194050	TBL2	26608	HP:0003028	Abnormality of the ankles
OMIM:194050	TBL2	26608	HP:0003422	Vertebral segmentation defect
OMIM:194050	TBL2	26608	HP:0040199	Flat midface
OMIM:194050	TBL2	26608	HP:0000348	High forehead
OMIM:194050	TBL2	26608	HP:0100539	Periorbital edema
OMIM:194050	TBL2	26608	HP:0000545	Myopia
OMIM:194050	TBL2	26608	HP:0001080	Biliary tract abnormality
OMIM:194050	TBL2	26608	HP:0004209	Clinodactyly of the 5th finger
OMIM:194050	TBL2	26608	HP:0002024	Malabsorption
OMIM:194050	TBL2	26608	HP:0000717	Autism
OMIM:194050	TBL2	26608	HP:0000125	Pelvic kidney
OMIM:194050	TBL2	26608	HP:0000485	Megalocornea
OMIM:194050	TBL2	26608	HP:0002974	Radioulnar synostosis
OMIM:194050	TBL2	26608	HP:0005105	Abnormal nasal morphology
OMIM:194050	TBL2	26608	HP:0000635	Blue irides
OMIM:194050	TBL2	26608	HP:0000540	Hypermetropia
OMIM:194050	TBL2	26608	HP:0001276	Hypertonia
OMIM:194050	TBL2	26608	HP:0001321	Cerebellar hypoplasia
OMIM:194050	TBL2	26608	HP:0001537	Umbilical hernia
OMIM:194050	TBL2	26608	HP:0001288	Gait disturbance
OMIM:194050	TBL2	26608	HP:0001822	Hallux valgus
OMIM:194050	TBL2	26608	HP:0000083	Renal insufficiency
OMIM:194050	TBL2	26608	HP:0000767	Pectus excavatum
OMIM:194050	TBL2	26608	HP:0001371	Flexion contracture
OMIM:194050	TBL2	26608	HP:0100000	Early onset of sexual maturation
OMIM:194050	TBL2	26608	HP:0001763	Pes planus
OMIM:194050	TBL2	26608	HP:0002167	Neurological speech impairment
OMIM:194050	TBL2	26608	HP:0004764	Myxomatous mitral valve degeneration
OMIM:194050	TBL2	26608	HP:0001653	Mitral regurgitation
OMIM:194050	TBL2	26608	HP:0012450	Chronic constipation
OMIM:194050	TBL2	26608	HP:0005344	Abnormality of the carotid arteries
OMIM:194050	TBL2	26608	HP:0001347	Hyperreflexia
OMIM:194050	TBL2	26608	HP:0000682	Abnormality of dental enamel
OMIM:194050	TBL2	26608	HP:0001136	Retinal arteriolar tortuosity
OMIM:194050	TBL2	26608	HP:0010747	Medial flaring of the eyebrow
OMIM:194050	TBL2	26608	HP:0000795	Abnormality of the urethra
OMIM:194050	TBL2	26608	HP:0000194	Open mouth
OMIM:194050	TBL2	26608	HP:0002370	Poor coordination
OMIM:194050	TBL2	26608	HP:0000015	Bladder diverticulum
OMIM:194050	TBL2	26608	HP:0100817	Renovascular hypertension
OMIM:194050	TBL2	26608	HP:0003119	Abnormality of lipid metabolism
OMIM:194050	TBL2	26608	HP:0002308	Arnold-Chiari malformation
OMIM:194050	TBL2	26608	HP:0000805	Enuresis
OMIM:194050	TBL2	26608	HP:0010794	Impaired visuospatial constructive cognition
OMIM:194050	TBL2	26608	HP:0001792	Small nail
OMIM:194050	TBL2	26608	HP:0000689	Dental malocclusion
OMIM:194050	TBL2	26608	HP:0002027	Abdominal pain
OMIM:194050	TBL2	26608	HP:0005280	Depressed nasal bridge
OMIM:194050	TBL2	26608	HP:0000407	Sensorineural hearing impairment
OMIM:194050	TBL2	26608	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:194050	TBL2	26608	HP:0002019	Constipation
OMIM:194050	TBL2	26608	HP:0002750	Delayed skeletal maturation
OMIM:194050	TBL2	26608	HP:0000293	Full cheeks
OMIM:194050	TBL2	26608	HP:0009748	Large earlobe
OMIM:194050	TBL2	26608	HP:0007720	Flat cornea
OMIM:194050	TBL2	26608	HP:0000464	Abnormality of the neck
OMIM:194050	TBL2	26608	HP:0005222	Bowel diverticulosis
OMIM:194050	TBL2	26608	HP:0000368	Low-set, posteriorly rotated ears
OMIM:194050	TBL2	26608	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:194050	TBL2	26608	HP:0002575	Tracheoesophageal fistula
OMIM:194050	TBL2	26608	HP:0000307	Pointed chin
OMIM:194050	TBL2	26608	HP:0004414	Abnormality of the pulmonary artery
OMIM:194050	TBL2	26608	HP:0010880	Increased nuchal translucency
OMIM:194050	TBL2	26608	HP:0000280	Coarse facial features
OMIM:194050	TBL2	26608	HP:0000403	Recurrent otitis media
OMIM:194050	TBL2	26608	HP:0001605	Vocal cord paralysis
OMIM:194050	TBL2	26608	HP:0008678	Renal hypoplasia/aplasia
OMIM:194050	TBL2	26608	HP:0007018	Attention deficit hyperactivity disorder
OMIM:194050	TBL2	26608	HP:0000486	Strabismus
OMIM:194050	TBL2	26608	HP:0001920	Renal artery stenosis
OMIM:194050	TBL2	26608	HP:0002253	Colonic diverticula
OMIM:194050	TBL2	26608	HP:0000023	Inguinal hernia
OMIM:194050	TBL2	26608	HP:0000821	Hypothyroidism
OMIM:194050	TBL2	26608	HP:0000089	Renal hypoplasia
OMIM:194050	TBL2	26608	HP:0000347	Micrognathia
OMIM:194050	TBL2	26608	HP:0000232	Everted lower lip vermilion
OMIM:194050	TBL2	26608	HP:0003072	Hypercalcemia
OMIM:194050	TBL2	26608	HP:0000272	Malar flattening
OMIM:194050	TBL2	26608	HP:0000739	Anxiety
OMIM:194050	TBL2	26608	HP:0000939	Osteoporosis
OMIM:194050	TBL2	26608	HP:0001337	Tremor
OMIM:194050	TBL2	26608	HP:0002120	Cerebral cortical atrophy
OMIM:194050	TBL2	26608	HP:0007759	Opacification of the corneal stroma
OMIM:194050	TBL2	26608	HP:0000826	Precocious puberty
OMIM:194050	TBL2	26608	HP:0000028	Cryptorchidism
OMIM:194050	TBL2	26608	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:194050	TBL2	26608	HP:0000113	Polycystic kidney dysplasia
OMIM:194050	TBL2	26608	HP:0001631	Atria septal defect
OMIM:194050	TBL2	26608	HP:0000154	Wide mouth
OMIM:194050	TBL2	26608	HP:0000938	Osteopenia
OMIM:194050	TBL2	26608	HP:0003198	Myopathy
OMIM:194050	TBL2	26608	HP:0000670	Carious teeth
OMIM:194050	TBL2	26608	HP:0003196	Short nose
OMIM:194050	TBL2	26608	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:194050	TBL2	26608	HP:0002376	Developmental regression
OMIM:194050	TBL2	26608	HP:0000400	Macrotia
OMIM:194050	TBL2	26608	HP:0000455	Broad nasal tip
OMIM:194050	TBL2	26608	HP:0001513	Obesity
OMIM:194050	TBL2	26608	HP:0002017	Nausea and vomiting
OMIM:194050	TBL2	26608	HP:0001376	Limitation of joint mobility
OMIM:194050	TBL2	26608	HP:0001646	Abnormality of the aortic valve
OMIM:194050	TBL2	26608	HP:0000646	Amblyopia
OMIM:194050	TBL2	26608	HP:0001181	Adducted thumb
OMIM:194050	TBL2	26608	HP:0001636	Tetralogy of Fallot
OMIM:194050	TBL2	26608	HP:0002623	Overriding aorta
OMIM:194050	TBL2	26608	HP:0004305	Involuntary movements
OMIM:194050	TBL2	26608	HP:0000819	Diabetes mellitus
OMIM:194050	TBL2	26608	HP:0002150	Hypercalciuria
OMIM:194050	TBL2	26608	HP:0100785	Insomnia
OMIM:194050	TBL2	26608	HP:0001642	Pulmonic stenosis
OMIM:194050	TBL2	26608	HP:0001511	Intrauterine growth retardation
OMIM:194050	TBL2	26608	HP:0002751	Kyphoscoliosis
OMIM:194050	TBL2	26608	HP:0000722	Obsessive-compulsive behavior
OMIM:194050	TBL2	26608	HP:0000075	Renal duplication
OMIM:194050	TBL2	26608	HP:0002608	Celiac disease
OMIM:194050	TBL2	26608	HP:0002035	Rectal prolapse
OMIM:194050	TBL2	26608	HP:0001609	Hoarse voice
OMIM:194050	TBL2	26608	HP:0002020	Gastroesophageal reflux
OMIM:194050	TBL2	26608	HP:0000787	Nephrolithiasis
OMIM:194050	TBL2	26608	HP:0001252	Muscular hypotonia
OMIM:194050	TBL2	26608	HP:0000337	Broad forehead
OMIM:194050	TBL2	26608	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:194050	TBL2	26608	HP:0001800	Hypoplastic toenails
OMIM:194050	TBL2	26608	HP:0000025	Functional abnormality of male internal genitalia
OMIM:194050	TBL2	26608	HP:0003298	Spina bifida occulta
OMIM:194050	TBL2	26608	HP:0001640	Cardiomegaly
OMIM:194050	TBL2	26608	HP:0002999	Patellar dislocation
OMIM:194050	TBL2	26608	HP:0001629	Ventricular septal defect
OMIM:194050	TBL2	26608	HP:0000629	Periorbital fullness
OMIM:194050	TBL2	26608	HP:0001231	Abnormality of the fingernails
OMIM:194050	TBL2	26608	HP:0001608	Abnormality of the voice
OMIM:194050	TBL2	26608	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:194050	TBL2	26608	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194050	TBL2	26608	HP:0000010	Recurrent urinary tract infections
OMIM:194050	TBL2	26608	HP:0000147	Polycystic ovaries
OMIM:194050	TBL2	26608	HP:0003043	Abnormality of the shoulder
OMIM:194050	TBL2	26608	HP:0000006	Autosomal dominant inheritance
OMIM:194050	TBL2	26608	HP:0001388	Joint laxity
OMIM:194050	TBL2	26608	HP:0000973	Cutis laxa
OMIM:194050	TBL2	26608	HP:0000093	Proteinuria
OMIM:194050	TBL2	26608	HP:0004295	Abnormality of the gastric mucosa
OMIM:194050	TBL2	26608	HP:0002360	Sleep disturbance
OMIM:194050	TBL2	26608	HP:0008661	Urethral stenosis
OMIM:194050	TBL2	26608	HP:0009804	Reduced number of teeth
OMIM:194050	TBL2	26608	HP:0002857	Genu valgum
OMIM:194050	TBL2	26608	HP:0001633	Abnormality of the mitral valve
OMIM:194050	TBL2	26608	HP:0007099	Arnold-Chiari type I malformation
OMIM:194050	TBL2	26608	HP:0000627	Posterior embryotoxon
OMIM:194050	TBL2	26608	HP:0002808	Kyphosis
OMIM:194050	TBL2	26608	HP:0003307	Hyperlordosis
OMIM:194050	TBL2	26608	HP:0001382	Joint hypermobility
OMIM:194050	TBL2	26608	HP:0008872	Feeding difficulties in infancy
OMIM:194050	TBL2	26608	HP:0008046	Abnormality of the retinal vasculature
OMIM:194050	TBL2	26608	HP:0011001	Increased bone mineral density
OMIM:194050	TBL2	26608	HP:0004381	Supravalvular aortic stenosis
OMIM:194050	TBL2	26608	HP:0001297	Stroke
OMIM:194050	TBL2	26608	HP:0002650	Scoliosis
OMIM:194050	TBL2	26608	HP:0100543	Cognitive impairment
OMIM:194050	TBL2	26608	HP:0000275	Narrow face
OMIM:194050	TBL2	26608	HP:0001249	Intellectual disability
OMIM:194050	TBL2	26608	HP:0000539	Abnormality of refraction
OMIM:194050	TBL2	26608	HP:0001409	Portal hypertension
OMIM:194050	TBL2	26608	HP:0000501	Glaucoma
OMIM:194050	TBL2	26608	HP:0002637	Cerebral ischemia
OMIM:194050	TBL2	26608	HP:0001531	Failure to thrive in infancy
OMIM:194050	TBL2	26608	HP:0008736	Hypoplasia of penis
OMIM:194050	TBL2	26608	HP:0002216	Premature graying of hair
OMIM:194050	TBL2	26608	HP:0000054	Micropenis
OMIM:194050	TBL2	26608	HP:0000977	Soft skin
OMIM:194050	TBL2	26608	HP:0001639	Hypertrophic cardiomyopathy
OMIM:194050	TBL2	26608	HP:0002183	Phonophobia
OMIM:194050	TBL2	26608	HP:0001645	Sudden cardiac death
OMIM:194050	TBL2	26608	HP:0000518	Cataract
OMIM:194050	TBL2	26608	HP:0000668	Hypodontia
OMIM:194050	TBL2	26608	HP:0000833	Glucose intolerance
OMIM:194050	TBL2	26608	HP:0001635	Congestive heart failure
OMIM:194050	TBL2	26608	HP:0001647	Bicuspid aortic valve
OMIM:194050	TBL2	26608	HP:0000960	Sacral dimple
OMIM:194050	TBL2	26608	HP:0007477	Abnormal dermatoglyphics
OMIM:194050	TBL2	26608	HP:0100542	Abnormal localization of kidney
OMIM:194050	LIMK1	3984	HP:0000632	Lacrimation abnormality
OMIM:194050	LIMK1	3984	HP:0000691	Microdontia
OMIM:194050	LIMK1	3984	HP:0200021	Down-sloping shoulders
OMIM:194050	LIMK1	3984	HP:0000212	Gingival overgrowth
OMIM:194050	LIMK1	3984	HP:0002141	Gait imbalance
OMIM:194050	LIMK1	3984	HP:0000121	Nephrocalcinosis
OMIM:194050	LIMK1	3984	HP:0002311	Incoordination
OMIM:194050	LIMK1	3984	HP:0004428	Elfin facies
OMIM:194050	LIMK1	3984	HP:0002829	Arthralgia
OMIM:194050	LIMK1	3984	HP:0005978	Type II diabetes mellitus
OMIM:194050	LIMK1	3984	HP:0004306	Abnormality of the endocardium
OMIM:194050	LIMK1	3984	HP:0000252	Microcephaly
OMIM:194050	LIMK1	3984	HP:0001677	Coronary artery disease
OMIM:194050	LIMK1	3984	HP:0004349	Reduced bone mineral density
OMIM:194050	LIMK1	3984	HP:0001699	Sudden death
OMIM:194050	LIMK1	3984	HP:0000157	Abnormality of the tongue
OMIM:194050	LIMK1	3984	HP:0000505	Visual impairment
OMIM:194050	LIMK1	3984	HP:0002205	Recurrent respiratory infections
OMIM:194050	LIMK1	3984	HP:0000286	Epicanthus
OMIM:194050	LIMK1	3984	HP:0007495	Prematurely aged appearance
OMIM:194050	LIMK1	3984	HP:0010780	Hyperacusis
OMIM:194050	LIMK1	3984	HP:0000076	Vesicoureteral reflux
OMIM:194050	LIMK1	3984	HP:0000341	Narrow forehead
OMIM:194050	LIMK1	3984	HP:0008770	Obsessive-compulsive trait
OMIM:194050	LIMK1	3984	HP:0000581	Blepharophimosis
OMIM:194050	LIMK1	3984	HP:0000601	Hypotelorism
OMIM:194050	LIMK1	3984	HP:0004322	Short stature
OMIM:194050	LIMK1	3984	HP:0005145	Coronary artery stenosis
OMIM:194050	LIMK1	3984	HP:0000179	Thick lower lip vermilion
OMIM:194050	LIMK1	3984	HP:0001634	Mitral valve prolapse
OMIM:194050	LIMK1	3984	HP:0010662	Abnormality of the diencephalon
OMIM:194050	LIMK1	3984	HP:0000388	Otitis media
OMIM:194050	LIMK1	3984	HP:0001643	Patent ductus arteriosus
OMIM:194050	LIMK1	3984	HP:0000343	Long philtrum
OMIM:194050	LIMK1	3984	HP:0003028	Abnormality of the ankles
OMIM:194050	LIMK1	3984	HP:0003422	Vertebral segmentation defect
OMIM:194050	LIMK1	3984	HP:0040199	Flat midface
OMIM:194050	LIMK1	3984	HP:0000348	High forehead
OMIM:194050	LIMK1	3984	HP:0100539	Periorbital edema
OMIM:194050	LIMK1	3984	HP:0000545	Myopia
OMIM:194050	LIMK1	3984	HP:0001080	Biliary tract abnormality
OMIM:194050	LIMK1	3984	HP:0004209	Clinodactyly of the 5th finger
OMIM:194050	LIMK1	3984	HP:0002024	Malabsorption
OMIM:194050	LIMK1	3984	HP:0000717	Autism
OMIM:194050	LIMK1	3984	HP:0000125	Pelvic kidney
OMIM:194050	LIMK1	3984	HP:0000485	Megalocornea
OMIM:194050	LIMK1	3984	HP:0002974	Radioulnar synostosis
OMIM:194050	LIMK1	3984	HP:0005105	Abnormal nasal morphology
OMIM:194050	LIMK1	3984	HP:0000635	Blue irides
OMIM:194050	LIMK1	3984	HP:0000540	Hypermetropia
OMIM:194050	LIMK1	3984	HP:0001276	Hypertonia
OMIM:194050	LIMK1	3984	HP:0001321	Cerebellar hypoplasia
OMIM:194050	LIMK1	3984	HP:0001537	Umbilical hernia
OMIM:194050	LIMK1	3984	HP:0001288	Gait disturbance
OMIM:194050	LIMK1	3984	HP:0001822	Hallux valgus
OMIM:194050	LIMK1	3984	HP:0000083	Renal insufficiency
OMIM:194050	LIMK1	3984	HP:0000767	Pectus excavatum
OMIM:194050	LIMK1	3984	HP:0001371	Flexion contracture
OMIM:194050	LIMK1	3984	HP:0100000	Early onset of sexual maturation
OMIM:194050	LIMK1	3984	HP:0001763	Pes planus
OMIM:194050	LIMK1	3984	HP:0002167	Neurological speech impairment
OMIM:194050	LIMK1	3984	HP:0004764	Myxomatous mitral valve degeneration
OMIM:194050	LIMK1	3984	HP:0001653	Mitral regurgitation
OMIM:194050	LIMK1	3984	HP:0012450	Chronic constipation
OMIM:194050	LIMK1	3984	HP:0005344	Abnormality of the carotid arteries
OMIM:194050	LIMK1	3984	HP:0001347	Hyperreflexia
OMIM:194050	LIMK1	3984	HP:0000682	Abnormality of dental enamel
OMIM:194050	LIMK1	3984	HP:0001136	Retinal arteriolar tortuosity
OMIM:194050	LIMK1	3984	HP:0010747	Medial flaring of the eyebrow
OMIM:194050	LIMK1	3984	HP:0000795	Abnormality of the urethra
OMIM:194050	LIMK1	3984	HP:0000194	Open mouth
OMIM:194050	LIMK1	3984	HP:0002370	Poor coordination
OMIM:194050	LIMK1	3984	HP:0000015	Bladder diverticulum
OMIM:194050	LIMK1	3984	HP:0100817	Renovascular hypertension
OMIM:194050	LIMK1	3984	HP:0003119	Abnormality of lipid metabolism
OMIM:194050	LIMK1	3984	HP:0002308	Arnold-Chiari malformation
OMIM:194050	LIMK1	3984	HP:0000805	Enuresis
OMIM:194050	LIMK1	3984	HP:0010794	Impaired visuospatial constructive cognition
OMIM:194050	LIMK1	3984	HP:0001792	Small nail
OMIM:194050	LIMK1	3984	HP:0000689	Dental malocclusion
OMIM:194050	LIMK1	3984	HP:0002027	Abdominal pain
OMIM:194050	LIMK1	3984	HP:0005280	Depressed nasal bridge
OMIM:194050	LIMK1	3984	HP:0000407	Sensorineural hearing impairment
OMIM:194050	LIMK1	3984	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:194050	LIMK1	3984	HP:0002019	Constipation
OMIM:194050	LIMK1	3984	HP:0002750	Delayed skeletal maturation
OMIM:194050	LIMK1	3984	HP:0000293	Full cheeks
OMIM:194050	LIMK1	3984	HP:0009748	Large earlobe
OMIM:194050	LIMK1	3984	HP:0007720	Flat cornea
OMIM:194050	LIMK1	3984	HP:0000464	Abnormality of the neck
OMIM:194050	LIMK1	3984	HP:0005222	Bowel diverticulosis
OMIM:194050	LIMK1	3984	HP:0000368	Low-set, posteriorly rotated ears
OMIM:194050	LIMK1	3984	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:194050	LIMK1	3984	HP:0002575	Tracheoesophageal fistula
OMIM:194050	LIMK1	3984	HP:0000307	Pointed chin
OMIM:194050	LIMK1	3984	HP:0004414	Abnormality of the pulmonary artery
OMIM:194050	LIMK1	3984	HP:0010880	Increased nuchal translucency
OMIM:194050	LIMK1	3984	HP:0000280	Coarse facial features
OMIM:194050	LIMK1	3984	HP:0000403	Recurrent otitis media
OMIM:194050	LIMK1	3984	HP:0001605	Vocal cord paralysis
OMIM:194050	LIMK1	3984	HP:0008678	Renal hypoplasia/aplasia
OMIM:194050	LIMK1	3984	HP:0007018	Attention deficit hyperactivity disorder
OMIM:194050	LIMK1	3984	HP:0000486	Strabismus
OMIM:194050	LIMK1	3984	HP:0001920	Renal artery stenosis
OMIM:194050	LIMK1	3984	HP:0002253	Colonic diverticula
OMIM:194050	LIMK1	3984	HP:0000023	Inguinal hernia
OMIM:194050	LIMK1	3984	HP:0000821	Hypothyroidism
OMIM:194050	LIMK1	3984	HP:0000089	Renal hypoplasia
OMIM:194050	LIMK1	3984	HP:0000347	Micrognathia
OMIM:194050	LIMK1	3984	HP:0000232	Everted lower lip vermilion
OMIM:194050	LIMK1	3984	HP:0003072	Hypercalcemia
OMIM:194050	LIMK1	3984	HP:0000272	Malar flattening
OMIM:194050	LIMK1	3984	HP:0000739	Anxiety
OMIM:194050	LIMK1	3984	HP:0000939	Osteoporosis
OMIM:194050	LIMK1	3984	HP:0001337	Tremor
OMIM:194050	LIMK1	3984	HP:0002120	Cerebral cortical atrophy
OMIM:194050	LIMK1	3984	HP:0007759	Opacification of the corneal stroma
OMIM:194050	LIMK1	3984	HP:0000826	Precocious puberty
OMIM:194050	LIMK1	3984	HP:0000028	Cryptorchidism
OMIM:194050	LIMK1	3984	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:194050	LIMK1	3984	HP:0000113	Polycystic kidney dysplasia
OMIM:194050	LIMK1	3984	HP:0001631	Atria septal defect
OMIM:194050	LIMK1	3984	HP:0000154	Wide mouth
OMIM:194050	LIMK1	3984	HP:0000938	Osteopenia
OMIM:194050	LIMK1	3984	HP:0003198	Myopathy
OMIM:194050	LIMK1	3984	HP:0000670	Carious teeth
OMIM:194050	LIMK1	3984	HP:0003196	Short nose
OMIM:194050	LIMK1	3984	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:194050	LIMK1	3984	HP:0002376	Developmental regression
OMIM:194050	LIMK1	3984	HP:0000400	Macrotia
OMIM:194050	LIMK1	3984	HP:0000455	Broad nasal tip
OMIM:194050	LIMK1	3984	HP:0001513	Obesity
OMIM:194050	LIMK1	3984	HP:0002017	Nausea and vomiting
OMIM:194050	LIMK1	3984	HP:0001376	Limitation of joint mobility
OMIM:194050	LIMK1	3984	HP:0001646	Abnormality of the aortic valve
OMIM:194050	LIMK1	3984	HP:0000646	Amblyopia
OMIM:194050	LIMK1	3984	HP:0001181	Adducted thumb
OMIM:194050	LIMK1	3984	HP:0001636	Tetralogy of Fallot
OMIM:194050	LIMK1	3984	HP:0002623	Overriding aorta
OMIM:194050	LIMK1	3984	HP:0004305	Involuntary movements
OMIM:194050	LIMK1	3984	HP:0000819	Diabetes mellitus
OMIM:194050	LIMK1	3984	HP:0002150	Hypercalciuria
OMIM:194050	LIMK1	3984	HP:0100785	Insomnia
OMIM:194050	LIMK1	3984	HP:0001642	Pulmonic stenosis
OMIM:194050	LIMK1	3984	HP:0001511	Intrauterine growth retardation
OMIM:194050	LIMK1	3984	HP:0002751	Kyphoscoliosis
OMIM:194050	LIMK1	3984	HP:0000722	Obsessive-compulsive behavior
OMIM:194050	LIMK1	3984	HP:0000075	Renal duplication
OMIM:194050	LIMK1	3984	HP:0002608	Celiac disease
OMIM:194050	LIMK1	3984	HP:0002035	Rectal prolapse
OMIM:194050	LIMK1	3984	HP:0001609	Hoarse voice
OMIM:194050	LIMK1	3984	HP:0002020	Gastroesophageal reflux
OMIM:194050	LIMK1	3984	HP:0000787	Nephrolithiasis
OMIM:194050	LIMK1	3984	HP:0001252	Muscular hypotonia
OMIM:194050	LIMK1	3984	HP:0000337	Broad forehead
OMIM:194050	LIMK1	3984	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:194050	LIMK1	3984	HP:0001800	Hypoplastic toenails
OMIM:194050	LIMK1	3984	HP:0000025	Functional abnormality of male internal genitalia
OMIM:194050	LIMK1	3984	HP:0003298	Spina bifida occulta
OMIM:194050	LIMK1	3984	HP:0001640	Cardiomegaly
OMIM:194050	LIMK1	3984	HP:0002999	Patellar dislocation
OMIM:194050	LIMK1	3984	HP:0001629	Ventricular septal defect
OMIM:194050	LIMK1	3984	HP:0000629	Periorbital fullness
OMIM:194050	LIMK1	3984	HP:0001231	Abnormality of the fingernails
OMIM:194050	LIMK1	3984	HP:0001608	Abnormality of the voice
OMIM:194050	LIMK1	3984	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:194050	LIMK1	3984	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194050	LIMK1	3984	HP:0000010	Recurrent urinary tract infections
OMIM:194050	LIMK1	3984	HP:0000147	Polycystic ovaries
OMIM:194050	LIMK1	3984	HP:0003043	Abnormality of the shoulder
OMIM:194050	LIMK1	3984	HP:0000006	Autosomal dominant inheritance
OMIM:194050	LIMK1	3984	HP:0001388	Joint laxity
OMIM:194050	LIMK1	3984	HP:0000973	Cutis laxa
OMIM:194050	LIMK1	3984	HP:0000093	Proteinuria
OMIM:194050	LIMK1	3984	HP:0004295	Abnormality of the gastric mucosa
OMIM:194050	LIMK1	3984	HP:0002360	Sleep disturbance
OMIM:194050	LIMK1	3984	HP:0008661	Urethral stenosis
OMIM:194050	LIMK1	3984	HP:0009804	Reduced number of teeth
OMIM:194050	LIMK1	3984	HP:0002857	Genu valgum
OMIM:194050	LIMK1	3984	HP:0001633	Abnormality of the mitral valve
OMIM:194050	LIMK1	3984	HP:0007099	Arnold-Chiari type I malformation
OMIM:194050	LIMK1	3984	HP:0000627	Posterior embryotoxon
OMIM:194050	LIMK1	3984	HP:0002808	Kyphosis
OMIM:194050	LIMK1	3984	HP:0003307	Hyperlordosis
OMIM:194050	LIMK1	3984	HP:0001382	Joint hypermobility
OMIM:194050	LIMK1	3984	HP:0008872	Feeding difficulties in infancy
OMIM:194050	LIMK1	3984	HP:0008046	Abnormality of the retinal vasculature
OMIM:194050	LIMK1	3984	HP:0011001	Increased bone mineral density
OMIM:194050	LIMK1	3984	HP:0004381	Supravalvular aortic stenosis
OMIM:194050	LIMK1	3984	HP:0001297	Stroke
OMIM:194050	LIMK1	3984	HP:0002650	Scoliosis
OMIM:194050	LIMK1	3984	HP:0100543	Cognitive impairment
OMIM:194050	LIMK1	3984	HP:0000275	Narrow face
OMIM:194050	LIMK1	3984	HP:0001249	Intellectual disability
OMIM:194050	LIMK1	3984	HP:0000539	Abnormality of refraction
OMIM:194050	LIMK1	3984	HP:0001409	Portal hypertension
OMIM:194050	LIMK1	3984	HP:0000501	Glaucoma
OMIM:194050	LIMK1	3984	HP:0002637	Cerebral ischemia
OMIM:194050	LIMK1	3984	HP:0001531	Failure to thrive in infancy
OMIM:194050	LIMK1	3984	HP:0008736	Hypoplasia of penis
OMIM:194050	LIMK1	3984	HP:0002216	Premature graying of hair
OMIM:194050	LIMK1	3984	HP:0000054	Micropenis
OMIM:194050	LIMK1	3984	HP:0000977	Soft skin
OMIM:194050	LIMK1	3984	HP:0001639	Hypertrophic cardiomyopathy
OMIM:194050	LIMK1	3984	HP:0002183	Phonophobia
OMIM:194050	LIMK1	3984	HP:0001645	Sudden cardiac death
OMIM:194050	LIMK1	3984	HP:0000518	Cataract
OMIM:194050	LIMK1	3984	HP:0000668	Hypodontia
OMIM:194050	LIMK1	3984	HP:0000833	Glucose intolerance
OMIM:194050	LIMK1	3984	HP:0001635	Congestive heart failure
OMIM:194050	LIMK1	3984	HP:0001647	Bicuspid aortic valve
OMIM:194050	LIMK1	3984	HP:0000960	Sacral dimple
OMIM:194050	LIMK1	3984	HP:0007477	Abnormal dermatoglyphics
OMIM:194050	LIMK1	3984	HP:0100542	Abnormal localization of kidney
OMIM:194050	GTF2IRD1	9569	HP:0000632	Lacrimation abnormality
OMIM:194050	GTF2IRD1	9569	HP:0000691	Microdontia
OMIM:194050	GTF2IRD1	9569	HP:0200021	Down-sloping shoulders
OMIM:194050	GTF2IRD1	9569	HP:0000212	Gingival overgrowth
OMIM:194050	GTF2IRD1	9569	HP:0002141	Gait imbalance
OMIM:194050	GTF2IRD1	9569	HP:0000121	Nephrocalcinosis
OMIM:194050	GTF2IRD1	9569	HP:0002311	Incoordination
OMIM:194050	GTF2IRD1	9569	HP:0004428	Elfin facies
OMIM:194050	GTF2IRD1	9569	HP:0002829	Arthralgia
OMIM:194050	GTF2IRD1	9569	HP:0005978	Type II diabetes mellitus
OMIM:194050	GTF2IRD1	9569	HP:0004306	Abnormality of the endocardium
OMIM:194050	GTF2IRD1	9569	HP:0000252	Microcephaly
OMIM:194050	GTF2IRD1	9569	HP:0001677	Coronary artery disease
OMIM:194050	GTF2IRD1	9569	HP:0004349	Reduced bone mineral density
OMIM:194050	GTF2IRD1	9569	HP:0001699	Sudden death
OMIM:194050	GTF2IRD1	9569	HP:0000157	Abnormality of the tongue
OMIM:194050	GTF2IRD1	9569	HP:0000505	Visual impairment
OMIM:194050	GTF2IRD1	9569	HP:0002205	Recurrent respiratory infections
OMIM:194050	GTF2IRD1	9569	HP:0000286	Epicanthus
OMIM:194050	GTF2IRD1	9569	HP:0007495	Prematurely aged appearance
OMIM:194050	GTF2IRD1	9569	HP:0010780	Hyperacusis
OMIM:194050	GTF2IRD1	9569	HP:0000076	Vesicoureteral reflux
OMIM:194050	GTF2IRD1	9569	HP:0000341	Narrow forehead
OMIM:194050	GTF2IRD1	9569	HP:0008770	Obsessive-compulsive trait
OMIM:194050	GTF2IRD1	9569	HP:0000581	Blepharophimosis
OMIM:194050	GTF2IRD1	9569	HP:0000601	Hypotelorism
OMIM:194050	GTF2IRD1	9569	HP:0004322	Short stature
OMIM:194050	GTF2IRD1	9569	HP:0005145	Coronary artery stenosis
OMIM:194050	GTF2IRD1	9569	HP:0000179	Thick lower lip vermilion
OMIM:194050	GTF2IRD1	9569	HP:0001634	Mitral valve prolapse
OMIM:194050	GTF2IRD1	9569	HP:0010662	Abnormality of the diencephalon
OMIM:194050	GTF2IRD1	9569	HP:0000388	Otitis media
OMIM:194050	GTF2IRD1	9569	HP:0001643	Patent ductus arteriosus
OMIM:194050	GTF2IRD1	9569	HP:0000343	Long philtrum
OMIM:194050	GTF2IRD1	9569	HP:0003028	Abnormality of the ankles
OMIM:194050	GTF2IRD1	9569	HP:0003422	Vertebral segmentation defect
OMIM:194050	GTF2IRD1	9569	HP:0040199	Flat midface
OMIM:194050	GTF2IRD1	9569	HP:0000348	High forehead
OMIM:194050	GTF2IRD1	9569	HP:0100539	Periorbital edema
OMIM:194050	GTF2IRD1	9569	HP:0000545	Myopia
OMIM:194050	GTF2IRD1	9569	HP:0001080	Biliary tract abnormality
OMIM:194050	GTF2IRD1	9569	HP:0004209	Clinodactyly of the 5th finger
OMIM:194050	GTF2IRD1	9569	HP:0002024	Malabsorption
OMIM:194050	GTF2IRD1	9569	HP:0000717	Autism
OMIM:194050	GTF2IRD1	9569	HP:0000125	Pelvic kidney
OMIM:194050	GTF2IRD1	9569	HP:0000485	Megalocornea
OMIM:194050	GTF2IRD1	9569	HP:0002974	Radioulnar synostosis
OMIM:194050	GTF2IRD1	9569	HP:0005105	Abnormal nasal morphology
OMIM:194050	GTF2IRD1	9569	HP:0000635	Blue irides
OMIM:194050	GTF2IRD1	9569	HP:0000540	Hypermetropia
OMIM:194050	GTF2IRD1	9569	HP:0001276	Hypertonia
OMIM:194050	GTF2IRD1	9569	HP:0001321	Cerebellar hypoplasia
OMIM:194050	GTF2IRD1	9569	HP:0001537	Umbilical hernia
OMIM:194050	GTF2IRD1	9569	HP:0001288	Gait disturbance
OMIM:194050	GTF2IRD1	9569	HP:0001822	Hallux valgus
OMIM:194050	GTF2IRD1	9569	HP:0000083	Renal insufficiency
OMIM:194050	GTF2IRD1	9569	HP:0000767	Pectus excavatum
OMIM:194050	GTF2IRD1	9569	HP:0001371	Flexion contracture
OMIM:194050	GTF2IRD1	9569	HP:0100000	Early onset of sexual maturation
OMIM:194050	GTF2IRD1	9569	HP:0001763	Pes planus
OMIM:194050	GTF2IRD1	9569	HP:0002167	Neurological speech impairment
OMIM:194050	GTF2IRD1	9569	HP:0004764	Myxomatous mitral valve degeneration
OMIM:194050	GTF2IRD1	9569	HP:0001653	Mitral regurgitation
OMIM:194050	GTF2IRD1	9569	HP:0012450	Chronic constipation
OMIM:194050	GTF2IRD1	9569	HP:0005344	Abnormality of the carotid arteries
OMIM:194050	GTF2IRD1	9569	HP:0001347	Hyperreflexia
OMIM:194050	GTF2IRD1	9569	HP:0000682	Abnormality of dental enamel
OMIM:194050	GTF2IRD1	9569	HP:0001136	Retinal arteriolar tortuosity
OMIM:194050	GTF2IRD1	9569	HP:0010747	Medial flaring of the eyebrow
OMIM:194050	GTF2IRD1	9569	HP:0000795	Abnormality of the urethra
OMIM:194050	GTF2IRD1	9569	HP:0000194	Open mouth
OMIM:194050	GTF2IRD1	9569	HP:0002370	Poor coordination
OMIM:194050	GTF2IRD1	9569	HP:0000015	Bladder diverticulum
OMIM:194050	GTF2IRD1	9569	HP:0100817	Renovascular hypertension
OMIM:194050	GTF2IRD1	9569	HP:0003119	Abnormality of lipid metabolism
OMIM:194050	GTF2IRD1	9569	HP:0002308	Arnold-Chiari malformation
OMIM:194050	GTF2IRD1	9569	HP:0000805	Enuresis
OMIM:194050	GTF2IRD1	9569	HP:0010794	Impaired visuospatial constructive cognition
OMIM:194050	GTF2IRD1	9569	HP:0001792	Small nail
OMIM:194050	GTF2IRD1	9569	HP:0000689	Dental malocclusion
OMIM:194050	GTF2IRD1	9569	HP:0002027	Abdominal pain
OMIM:194050	GTF2IRD1	9569	HP:0005280	Depressed nasal bridge
OMIM:194050	GTF2IRD1	9569	HP:0000407	Sensorineural hearing impairment
OMIM:194050	GTF2IRD1	9569	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:194050	GTF2IRD1	9569	HP:0002019	Constipation
OMIM:194050	GTF2IRD1	9569	HP:0002750	Delayed skeletal maturation
OMIM:194050	GTF2IRD1	9569	HP:0000293	Full cheeks
OMIM:194050	GTF2IRD1	9569	HP:0009748	Large earlobe
OMIM:194050	GTF2IRD1	9569	HP:0007720	Flat cornea
OMIM:194050	GTF2IRD1	9569	HP:0000464	Abnormality of the neck
OMIM:194050	GTF2IRD1	9569	HP:0005222	Bowel diverticulosis
OMIM:194050	GTF2IRD1	9569	HP:0000368	Low-set, posteriorly rotated ears
OMIM:194050	GTF2IRD1	9569	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:194050	GTF2IRD1	9569	HP:0002575	Tracheoesophageal fistula
OMIM:194050	GTF2IRD1	9569	HP:0000307	Pointed chin
OMIM:194050	GTF2IRD1	9569	HP:0004414	Abnormality of the pulmonary artery
OMIM:194050	GTF2IRD1	9569	HP:0010880	Increased nuchal translucency
OMIM:194050	GTF2IRD1	9569	HP:0000280	Coarse facial features
OMIM:194050	GTF2IRD1	9569	HP:0000403	Recurrent otitis media
OMIM:194050	GTF2IRD1	9569	HP:0001605	Vocal cord paralysis
OMIM:194050	GTF2IRD1	9569	HP:0008678	Renal hypoplasia/aplasia
OMIM:194050	GTF2IRD1	9569	HP:0007018	Attention deficit hyperactivity disorder
OMIM:194050	GTF2IRD1	9569	HP:0000486	Strabismus
OMIM:194050	GTF2IRD1	9569	HP:0001920	Renal artery stenosis
OMIM:194050	GTF2IRD1	9569	HP:0002253	Colonic diverticula
OMIM:194050	GTF2IRD1	9569	HP:0000023	Inguinal hernia
OMIM:194050	GTF2IRD1	9569	HP:0000821	Hypothyroidism
OMIM:194050	GTF2IRD1	9569	HP:0000089	Renal hypoplasia
OMIM:194050	GTF2IRD1	9569	HP:0000347	Micrognathia
OMIM:194050	GTF2IRD1	9569	HP:0000232	Everted lower lip vermilion
OMIM:194050	GTF2IRD1	9569	HP:0003072	Hypercalcemia
OMIM:194050	GTF2IRD1	9569	HP:0000272	Malar flattening
OMIM:194050	GTF2IRD1	9569	HP:0000739	Anxiety
OMIM:194050	GTF2IRD1	9569	HP:0000939	Osteoporosis
OMIM:194050	GTF2IRD1	9569	HP:0001337	Tremor
OMIM:194050	GTF2IRD1	9569	HP:0002120	Cerebral cortical atrophy
OMIM:194050	GTF2IRD1	9569	HP:0007759	Opacification of the corneal stroma
OMIM:194050	GTF2IRD1	9569	HP:0000826	Precocious puberty
OMIM:194050	GTF2IRD1	9569	HP:0000028	Cryptorchidism
OMIM:194050	GTF2IRD1	9569	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:194050	GTF2IRD1	9569	HP:0000113	Polycystic kidney dysplasia
OMIM:194050	GTF2IRD1	9569	HP:0001631	Atria septal defect
OMIM:194050	GTF2IRD1	9569	HP:0000154	Wide mouth
OMIM:194050	GTF2IRD1	9569	HP:0000938	Osteopenia
OMIM:194050	GTF2IRD1	9569	HP:0003198	Myopathy
OMIM:194050	GTF2IRD1	9569	HP:0000670	Carious teeth
OMIM:194050	GTF2IRD1	9569	HP:0003196	Short nose
OMIM:194050	GTF2IRD1	9569	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:194050	GTF2IRD1	9569	HP:0002376	Developmental regression
OMIM:194050	GTF2IRD1	9569	HP:0000400	Macrotia
OMIM:194050	GTF2IRD1	9569	HP:0000455	Broad nasal tip
OMIM:194050	GTF2IRD1	9569	HP:0001513	Obesity
OMIM:194050	GTF2IRD1	9569	HP:0002017	Nausea and vomiting
OMIM:194050	GTF2IRD1	9569	HP:0001376	Limitation of joint mobility
OMIM:194050	GTF2IRD1	9569	HP:0001646	Abnormality of the aortic valve
OMIM:194050	GTF2IRD1	9569	HP:0000646	Amblyopia
OMIM:194050	GTF2IRD1	9569	HP:0001181	Adducted thumb
OMIM:194050	GTF2IRD1	9569	HP:0001636	Tetralogy of Fallot
OMIM:194050	GTF2IRD1	9569	HP:0002623	Overriding aorta
OMIM:194050	GTF2IRD1	9569	HP:0004305	Involuntary movements
OMIM:194050	GTF2IRD1	9569	HP:0000819	Diabetes mellitus
OMIM:194050	GTF2IRD1	9569	HP:0002150	Hypercalciuria
OMIM:194050	GTF2IRD1	9569	HP:0100785	Insomnia
OMIM:194050	GTF2IRD1	9569	HP:0001642	Pulmonic stenosis
OMIM:194050	GTF2IRD1	9569	HP:0001511	Intrauterine growth retardation
OMIM:194050	GTF2IRD1	9569	HP:0002751	Kyphoscoliosis
OMIM:194050	GTF2IRD1	9569	HP:0000722	Obsessive-compulsive behavior
OMIM:194050	GTF2IRD1	9569	HP:0000075	Renal duplication
OMIM:194050	GTF2IRD1	9569	HP:0002608	Celiac disease
OMIM:194050	GTF2IRD1	9569	HP:0002035	Rectal prolapse
OMIM:194050	GTF2IRD1	9569	HP:0001609	Hoarse voice
OMIM:194050	GTF2IRD1	9569	HP:0002020	Gastroesophageal reflux
OMIM:194050	GTF2IRD1	9569	HP:0000787	Nephrolithiasis
OMIM:194050	GTF2IRD1	9569	HP:0001252	Muscular hypotonia
OMIM:194050	GTF2IRD1	9569	HP:0000337	Broad forehead
OMIM:194050	GTF2IRD1	9569	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:194050	GTF2IRD1	9569	HP:0001800	Hypoplastic toenails
OMIM:194050	GTF2IRD1	9569	HP:0000025	Functional abnormality of male internal genitalia
OMIM:194050	GTF2IRD1	9569	HP:0003298	Spina bifida occulta
OMIM:194050	GTF2IRD1	9569	HP:0001640	Cardiomegaly
OMIM:194050	GTF2IRD1	9569	HP:0002999	Patellar dislocation
OMIM:194050	GTF2IRD1	9569	HP:0001629	Ventricular septal defect
OMIM:194050	GTF2IRD1	9569	HP:0000629	Periorbital fullness
OMIM:194050	GTF2IRD1	9569	HP:0001231	Abnormality of the fingernails
OMIM:194050	GTF2IRD1	9569	HP:0001608	Abnormality of the voice
OMIM:194050	GTF2IRD1	9569	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:194050	GTF2IRD1	9569	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194050	GTF2IRD1	9569	HP:0000010	Recurrent urinary tract infections
OMIM:194050	GTF2IRD1	9569	HP:0000147	Polycystic ovaries
OMIM:194050	GTF2IRD1	9569	HP:0003043	Abnormality of the shoulder
OMIM:194050	GTF2IRD1	9569	HP:0000006	Autosomal dominant inheritance
OMIM:194050	GTF2IRD1	9569	HP:0001388	Joint laxity
OMIM:194050	GTF2IRD1	9569	HP:0000973	Cutis laxa
OMIM:194050	GTF2IRD1	9569	HP:0000093	Proteinuria
OMIM:194050	GTF2IRD1	9569	HP:0004295	Abnormality of the gastric mucosa
OMIM:194050	GTF2IRD1	9569	HP:0002360	Sleep disturbance
OMIM:194050	GTF2IRD1	9569	HP:0008661	Urethral stenosis
OMIM:194050	GTF2IRD1	9569	HP:0009804	Reduced number of teeth
OMIM:194050	GTF2IRD1	9569	HP:0002857	Genu valgum
OMIM:194050	GTF2IRD1	9569	HP:0001633	Abnormality of the mitral valve
OMIM:194050	GTF2IRD1	9569	HP:0007099	Arnold-Chiari type I malformation
OMIM:194050	GTF2IRD1	9569	HP:0000627	Posterior embryotoxon
OMIM:194050	GTF2IRD1	9569	HP:0002808	Kyphosis
OMIM:194050	GTF2IRD1	9569	HP:0003307	Hyperlordosis
OMIM:194050	GTF2IRD1	9569	HP:0001382	Joint hypermobility
OMIM:194050	GTF2IRD1	9569	HP:0008872	Feeding difficulties in infancy
OMIM:194050	GTF2IRD1	9569	HP:0008046	Abnormality of the retinal vasculature
OMIM:194050	GTF2IRD1	9569	HP:0011001	Increased bone mineral density
OMIM:194050	GTF2IRD1	9569	HP:0004381	Supravalvular aortic stenosis
OMIM:194050	GTF2IRD1	9569	HP:0001297	Stroke
OMIM:194050	GTF2IRD1	9569	HP:0002650	Scoliosis
OMIM:194050	GTF2IRD1	9569	HP:0100543	Cognitive impairment
OMIM:194050	GTF2IRD1	9569	HP:0000275	Narrow face
OMIM:194050	GTF2IRD1	9569	HP:0001249	Intellectual disability
OMIM:194050	GTF2IRD1	9569	HP:0000539	Abnormality of refraction
OMIM:194050	GTF2IRD1	9569	HP:0001409	Portal hypertension
OMIM:194050	GTF2IRD1	9569	HP:0000501	Glaucoma
OMIM:194050	GTF2IRD1	9569	HP:0002637	Cerebral ischemia
OMIM:194050	GTF2IRD1	9569	HP:0001531	Failure to thrive in infancy
OMIM:194050	GTF2IRD1	9569	HP:0008736	Hypoplasia of penis
OMIM:194050	GTF2IRD1	9569	HP:0002216	Premature graying of hair
OMIM:194050	GTF2IRD1	9569	HP:0000054	Micropenis
OMIM:194050	GTF2IRD1	9569	HP:0000977	Soft skin
OMIM:194050	GTF2IRD1	9569	HP:0001639	Hypertrophic cardiomyopathy
OMIM:194050	GTF2IRD1	9569	HP:0002183	Phonophobia
OMIM:194050	GTF2IRD1	9569	HP:0001645	Sudden cardiac death
OMIM:194050	GTF2IRD1	9569	HP:0000518	Cataract
OMIM:194050	GTF2IRD1	9569	HP:0000668	Hypodontia
OMIM:194050	GTF2IRD1	9569	HP:0000833	Glucose intolerance
OMIM:194050	GTF2IRD1	9569	HP:0001635	Congestive heart failure
OMIM:194050	GTF2IRD1	9569	HP:0001647	Bicuspid aortic valve
OMIM:194050	GTF2IRD1	9569	HP:0000960	Sacral dimple
OMIM:194050	GTF2IRD1	9569	HP:0007477	Abnormal dermatoglyphics
OMIM:194050	GTF2IRD1	9569	HP:0100542	Abnormal localization of kidney
OMIM:194050	CLIP2	7461	HP:0000632	Lacrimation abnormality
OMIM:194050	CLIP2	7461	HP:0000691	Microdontia
OMIM:194050	CLIP2	7461	HP:0200021	Down-sloping shoulders
OMIM:194050	CLIP2	7461	HP:0000212	Gingival overgrowth
OMIM:194050	CLIP2	7461	HP:0002141	Gait imbalance
OMIM:194050	CLIP2	7461	HP:0000121	Nephrocalcinosis
OMIM:194050	CLIP2	7461	HP:0002311	Incoordination
OMIM:194050	CLIP2	7461	HP:0004428	Elfin facies
OMIM:194050	CLIP2	7461	HP:0002829	Arthralgia
OMIM:194050	CLIP2	7461	HP:0005978	Type II diabetes mellitus
OMIM:194050	CLIP2	7461	HP:0004306	Abnormality of the endocardium
OMIM:194050	CLIP2	7461	HP:0000252	Microcephaly
OMIM:194050	CLIP2	7461	HP:0001677	Coronary artery disease
OMIM:194050	CLIP2	7461	HP:0004349	Reduced bone mineral density
OMIM:194050	CLIP2	7461	HP:0001699	Sudden death
OMIM:194050	CLIP2	7461	HP:0000157	Abnormality of the tongue
OMIM:194050	CLIP2	7461	HP:0000505	Visual impairment
OMIM:194050	CLIP2	7461	HP:0002205	Recurrent respiratory infections
OMIM:194050	CLIP2	7461	HP:0000286	Epicanthus
OMIM:194050	CLIP2	7461	HP:0007495	Prematurely aged appearance
OMIM:194050	CLIP2	7461	HP:0010780	Hyperacusis
OMIM:194050	CLIP2	7461	HP:0000076	Vesicoureteral reflux
OMIM:194050	CLIP2	7461	HP:0000341	Narrow forehead
OMIM:194050	CLIP2	7461	HP:0008770	Obsessive-compulsive trait
OMIM:194050	CLIP2	7461	HP:0000581	Blepharophimosis
OMIM:194050	CLIP2	7461	HP:0000601	Hypotelorism
OMIM:194050	CLIP2	7461	HP:0004322	Short stature
OMIM:194050	CLIP2	7461	HP:0005145	Coronary artery stenosis
OMIM:194050	CLIP2	7461	HP:0000179	Thick lower lip vermilion
OMIM:194050	CLIP2	7461	HP:0001634	Mitral valve prolapse
OMIM:194050	CLIP2	7461	HP:0010662	Abnormality of the diencephalon
OMIM:194050	CLIP2	7461	HP:0000388	Otitis media
OMIM:194050	CLIP2	7461	HP:0001643	Patent ductus arteriosus
OMIM:194050	CLIP2	7461	HP:0000343	Long philtrum
OMIM:194050	CLIP2	7461	HP:0003028	Abnormality of the ankles
OMIM:194050	CLIP2	7461	HP:0003422	Vertebral segmentation defect
OMIM:194050	CLIP2	7461	HP:0040199	Flat midface
OMIM:194050	CLIP2	7461	HP:0000348	High forehead
OMIM:194050	CLIP2	7461	HP:0100539	Periorbital edema
OMIM:194050	CLIP2	7461	HP:0000545	Myopia
OMIM:194050	CLIP2	7461	HP:0001080	Biliary tract abnormality
OMIM:194050	CLIP2	7461	HP:0004209	Clinodactyly of the 5th finger
OMIM:194050	CLIP2	7461	HP:0002024	Malabsorption
OMIM:194050	CLIP2	7461	HP:0000717	Autism
OMIM:194050	CLIP2	7461	HP:0000125	Pelvic kidney
OMIM:194050	CLIP2	7461	HP:0000485	Megalocornea
OMIM:194050	CLIP2	7461	HP:0002974	Radioulnar synostosis
OMIM:194050	CLIP2	7461	HP:0005105	Abnormal nasal morphology
OMIM:194050	CLIP2	7461	HP:0000635	Blue irides
OMIM:194050	CLIP2	7461	HP:0000540	Hypermetropia
OMIM:194050	CLIP2	7461	HP:0001276	Hypertonia
OMIM:194050	CLIP2	7461	HP:0001321	Cerebellar hypoplasia
OMIM:194050	CLIP2	7461	HP:0001537	Umbilical hernia
OMIM:194050	CLIP2	7461	HP:0001288	Gait disturbance
OMIM:194050	CLIP2	7461	HP:0001822	Hallux valgus
OMIM:194050	CLIP2	7461	HP:0000083	Renal insufficiency
OMIM:194050	CLIP2	7461	HP:0000767	Pectus excavatum
OMIM:194050	CLIP2	7461	HP:0001371	Flexion contracture
OMIM:194050	CLIP2	7461	HP:0100000	Early onset of sexual maturation
OMIM:194050	CLIP2	7461	HP:0001763	Pes planus
OMIM:194050	CLIP2	7461	HP:0002167	Neurological speech impairment
OMIM:194050	CLIP2	7461	HP:0004764	Myxomatous mitral valve degeneration
OMIM:194050	CLIP2	7461	HP:0001653	Mitral regurgitation
OMIM:194050	CLIP2	7461	HP:0012450	Chronic constipation
OMIM:194050	CLIP2	7461	HP:0005344	Abnormality of the carotid arteries
OMIM:194050	CLIP2	7461	HP:0001347	Hyperreflexia
OMIM:194050	CLIP2	7461	HP:0000682	Abnormality of dental enamel
OMIM:194050	CLIP2	7461	HP:0001136	Retinal arteriolar tortuosity
OMIM:194050	CLIP2	7461	HP:0010747	Medial flaring of the eyebrow
OMIM:194050	CLIP2	7461	HP:0000795	Abnormality of the urethra
OMIM:194050	CLIP2	7461	HP:0000194	Open mouth
OMIM:194050	CLIP2	7461	HP:0002370	Poor coordination
OMIM:194050	CLIP2	7461	HP:0000015	Bladder diverticulum
OMIM:194050	CLIP2	7461	HP:0100817	Renovascular hypertension
OMIM:194050	CLIP2	7461	HP:0003119	Abnormality of lipid metabolism
OMIM:194050	CLIP2	7461	HP:0002308	Arnold-Chiari malformation
OMIM:194050	CLIP2	7461	HP:0000805	Enuresis
OMIM:194050	CLIP2	7461	HP:0010794	Impaired visuospatial constructive cognition
OMIM:194050	CLIP2	7461	HP:0001792	Small nail
OMIM:194050	CLIP2	7461	HP:0000689	Dental malocclusion
OMIM:194050	CLIP2	7461	HP:0002027	Abdominal pain
OMIM:194050	CLIP2	7461	HP:0005280	Depressed nasal bridge
OMIM:194050	CLIP2	7461	HP:0000407	Sensorineural hearing impairment
OMIM:194050	CLIP2	7461	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:194050	CLIP2	7461	HP:0002019	Constipation
OMIM:194050	CLIP2	7461	HP:0002750	Delayed skeletal maturation
OMIM:194050	CLIP2	7461	HP:0000293	Full cheeks
OMIM:194050	CLIP2	7461	HP:0009748	Large earlobe
OMIM:194050	CLIP2	7461	HP:0007720	Flat cornea
OMIM:194050	CLIP2	7461	HP:0000464	Abnormality of the neck
OMIM:194050	CLIP2	7461	HP:0005222	Bowel diverticulosis
OMIM:194050	CLIP2	7461	HP:0000368	Low-set, posteriorly rotated ears
OMIM:194050	CLIP2	7461	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:194050	CLIP2	7461	HP:0002575	Tracheoesophageal fistula
OMIM:194050	CLIP2	7461	HP:0000307	Pointed chin
OMIM:194050	CLIP2	7461	HP:0004414	Abnormality of the pulmonary artery
OMIM:194050	CLIP2	7461	HP:0010880	Increased nuchal translucency
OMIM:194050	CLIP2	7461	HP:0000280	Coarse facial features
OMIM:194050	CLIP2	7461	HP:0000403	Recurrent otitis media
OMIM:194050	CLIP2	7461	HP:0001605	Vocal cord paralysis
OMIM:194050	CLIP2	7461	HP:0008678	Renal hypoplasia/aplasia
OMIM:194050	CLIP2	7461	HP:0007018	Attention deficit hyperactivity disorder
OMIM:194050	CLIP2	7461	HP:0000486	Strabismus
OMIM:194050	CLIP2	7461	HP:0001920	Renal artery stenosis
OMIM:194050	CLIP2	7461	HP:0002253	Colonic diverticula
OMIM:194050	CLIP2	7461	HP:0000023	Inguinal hernia
OMIM:194050	CLIP2	7461	HP:0000821	Hypothyroidism
OMIM:194050	CLIP2	7461	HP:0000089	Renal hypoplasia
OMIM:194050	CLIP2	7461	HP:0000347	Micrognathia
OMIM:194050	CLIP2	7461	HP:0000232	Everted lower lip vermilion
OMIM:194050	CLIP2	7461	HP:0003072	Hypercalcemia
OMIM:194050	CLIP2	7461	HP:0000272	Malar flattening
OMIM:194050	CLIP2	7461	HP:0000739	Anxiety
OMIM:194050	CLIP2	7461	HP:0000939	Osteoporosis
OMIM:194050	CLIP2	7461	HP:0001337	Tremor
OMIM:194050	CLIP2	7461	HP:0002120	Cerebral cortical atrophy
OMIM:194050	CLIP2	7461	HP:0007759	Opacification of the corneal stroma
OMIM:194050	CLIP2	7461	HP:0000826	Precocious puberty
OMIM:194050	CLIP2	7461	HP:0000028	Cryptorchidism
OMIM:194050	CLIP2	7461	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:194050	CLIP2	7461	HP:0000113	Polycystic kidney dysplasia
OMIM:194050	CLIP2	7461	HP:0001631	Atria septal defect
OMIM:194050	CLIP2	7461	HP:0000154	Wide mouth
OMIM:194050	CLIP2	7461	HP:0000938	Osteopenia
OMIM:194050	CLIP2	7461	HP:0003198	Myopathy
OMIM:194050	CLIP2	7461	HP:0000670	Carious teeth
OMIM:194050	CLIP2	7461	HP:0003196	Short nose
OMIM:194050	CLIP2	7461	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:194050	CLIP2	7461	HP:0002376	Developmental regression
OMIM:194050	CLIP2	7461	HP:0000400	Macrotia
OMIM:194050	CLIP2	7461	HP:0000455	Broad nasal tip
OMIM:194050	CLIP2	7461	HP:0001513	Obesity
OMIM:194050	CLIP2	7461	HP:0002017	Nausea and vomiting
OMIM:194050	CLIP2	7461	HP:0001376	Limitation of joint mobility
OMIM:194050	CLIP2	7461	HP:0001646	Abnormality of the aortic valve
OMIM:194050	CLIP2	7461	HP:0000646	Amblyopia
OMIM:194050	CLIP2	7461	HP:0001181	Adducted thumb
OMIM:194050	CLIP2	7461	HP:0001636	Tetralogy of Fallot
OMIM:194050	CLIP2	7461	HP:0002623	Overriding aorta
OMIM:194050	CLIP2	7461	HP:0004305	Involuntary movements
OMIM:194050	CLIP2	7461	HP:0000819	Diabetes mellitus
OMIM:194050	CLIP2	7461	HP:0002150	Hypercalciuria
OMIM:194050	CLIP2	7461	HP:0100785	Insomnia
OMIM:194050	CLIP2	7461	HP:0001642	Pulmonic stenosis
OMIM:194050	CLIP2	7461	HP:0001511	Intrauterine growth retardation
OMIM:194050	CLIP2	7461	HP:0002751	Kyphoscoliosis
OMIM:194050	CLIP2	7461	HP:0000722	Obsessive-compulsive behavior
OMIM:194050	CLIP2	7461	HP:0000075	Renal duplication
OMIM:194050	CLIP2	7461	HP:0002608	Celiac disease
OMIM:194050	CLIP2	7461	HP:0002035	Rectal prolapse
OMIM:194050	CLIP2	7461	HP:0001609	Hoarse voice
OMIM:194050	CLIP2	7461	HP:0002020	Gastroesophageal reflux
OMIM:194050	CLIP2	7461	HP:0000787	Nephrolithiasis
OMIM:194050	CLIP2	7461	HP:0001252	Muscular hypotonia
OMIM:194050	CLIP2	7461	HP:0000337	Broad forehead
OMIM:194050	CLIP2	7461	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:194050	CLIP2	7461	HP:0001800	Hypoplastic toenails
OMIM:194050	CLIP2	7461	HP:0000025	Functional abnormality of male internal genitalia
OMIM:194050	CLIP2	7461	HP:0003298	Spina bifida occulta
OMIM:194050	CLIP2	7461	HP:0001640	Cardiomegaly
OMIM:194050	CLIP2	7461	HP:0002999	Patellar dislocation
OMIM:194050	CLIP2	7461	HP:0001629	Ventricular septal defect
OMIM:194050	CLIP2	7461	HP:0000629	Periorbital fullness
OMIM:194050	CLIP2	7461	HP:0001231	Abnormality of the fingernails
OMIM:194050	CLIP2	7461	HP:0001608	Abnormality of the voice
OMIM:194050	CLIP2	7461	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:194050	CLIP2	7461	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194050	CLIP2	7461	HP:0000010	Recurrent urinary tract infections
OMIM:194050	CLIP2	7461	HP:0000147	Polycystic ovaries
OMIM:194050	CLIP2	7461	HP:0003043	Abnormality of the shoulder
OMIM:194050	CLIP2	7461	HP:0000006	Autosomal dominant inheritance
OMIM:194050	CLIP2	7461	HP:0001388	Joint laxity
OMIM:194050	CLIP2	7461	HP:0000973	Cutis laxa
OMIM:194050	CLIP2	7461	HP:0000093	Proteinuria
OMIM:194050	CLIP2	7461	HP:0004295	Abnormality of the gastric mucosa
OMIM:194050	CLIP2	7461	HP:0002360	Sleep disturbance
OMIM:194050	CLIP2	7461	HP:0008661	Urethral stenosis
OMIM:194050	CLIP2	7461	HP:0009804	Reduced number of teeth
OMIM:194050	CLIP2	7461	HP:0002857	Genu valgum
OMIM:194050	CLIP2	7461	HP:0001633	Abnormality of the mitral valve
OMIM:194050	CLIP2	7461	HP:0007099	Arnold-Chiari type I malformation
OMIM:194050	CLIP2	7461	HP:0000627	Posterior embryotoxon
OMIM:194050	CLIP2	7461	HP:0002808	Kyphosis
OMIM:194050	CLIP2	7461	HP:0003307	Hyperlordosis
OMIM:194050	CLIP2	7461	HP:0001382	Joint hypermobility
OMIM:194050	CLIP2	7461	HP:0008872	Feeding difficulties in infancy
OMIM:194050	CLIP2	7461	HP:0008046	Abnormality of the retinal vasculature
OMIM:194050	CLIP2	7461	HP:0011001	Increased bone mineral density
OMIM:194050	CLIP2	7461	HP:0004381	Supravalvular aortic stenosis
OMIM:194050	CLIP2	7461	HP:0001297	Stroke
OMIM:194050	CLIP2	7461	HP:0002650	Scoliosis
OMIM:194050	CLIP2	7461	HP:0100543	Cognitive impairment
OMIM:194050	CLIP2	7461	HP:0000275	Narrow face
OMIM:194050	CLIP2	7461	HP:0001249	Intellectual disability
OMIM:194050	CLIP2	7461	HP:0000539	Abnormality of refraction
OMIM:194050	CLIP2	7461	HP:0001409	Portal hypertension
OMIM:194050	CLIP2	7461	HP:0000501	Glaucoma
OMIM:194050	CLIP2	7461	HP:0002637	Cerebral ischemia
OMIM:194050	CLIP2	7461	HP:0001531	Failure to thrive in infancy
OMIM:194050	CLIP2	7461	HP:0008736	Hypoplasia of penis
OMIM:194050	CLIP2	7461	HP:0002216	Premature graying of hair
OMIM:194050	CLIP2	7461	HP:0000054	Micropenis
OMIM:194050	CLIP2	7461	HP:0000977	Soft skin
OMIM:194050	CLIP2	7461	HP:0001639	Hypertrophic cardiomyopathy
OMIM:194050	CLIP2	7461	HP:0002183	Phonophobia
OMIM:194050	CLIP2	7461	HP:0001645	Sudden cardiac death
OMIM:194050	CLIP2	7461	HP:0000518	Cataract
OMIM:194050	CLIP2	7461	HP:0000668	Hypodontia
OMIM:194050	CLIP2	7461	HP:0000833	Glucose intolerance
OMIM:194050	CLIP2	7461	HP:0001635	Congestive heart failure
OMIM:194050	CLIP2	7461	HP:0001647	Bicuspid aortic valve
OMIM:194050	CLIP2	7461	HP:0000960	Sacral dimple
OMIM:194050	CLIP2	7461	HP:0007477	Abnormal dermatoglyphics
OMIM:194050	CLIP2	7461	HP:0100542	Abnormal localization of kidney
OMIM:194050	ELN	2006	HP:0000632	Lacrimation abnormality
OMIM:194050	ELN	2006	HP:0000691	Microdontia
OMIM:194050	ELN	2006	HP:0200021	Down-sloping shoulders
OMIM:194050	ELN	2006	HP:0000212	Gingival overgrowth
OMIM:194050	ELN	2006	HP:0002141	Gait imbalance
OMIM:194050	ELN	2006	HP:0000121	Nephrocalcinosis
OMIM:194050	ELN	2006	HP:0002311	Incoordination
OMIM:194050	ELN	2006	HP:0004428	Elfin facies
OMIM:194050	ELN	2006	HP:0002829	Arthralgia
OMIM:194050	ELN	2006	HP:0005978	Type II diabetes mellitus
OMIM:194050	ELN	2006	HP:0004306	Abnormality of the endocardium
OMIM:194050	ELN	2006	HP:0000252	Microcephaly
OMIM:194050	ELN	2006	HP:0001677	Coronary artery disease
OMIM:194050	ELN	2006	HP:0004349	Reduced bone mineral density
OMIM:194050	ELN	2006	HP:0001699	Sudden death
OMIM:194050	ELN	2006	HP:0000157	Abnormality of the tongue
OMIM:194050	ELN	2006	HP:0000505	Visual impairment
OMIM:194050	ELN	2006	HP:0002205	Recurrent respiratory infections
OMIM:194050	ELN	2006	HP:0000286	Epicanthus
OMIM:194050	ELN	2006	HP:0007495	Prematurely aged appearance
OMIM:194050	ELN	2006	HP:0010780	Hyperacusis
OMIM:194050	ELN	2006	HP:0000076	Vesicoureteral reflux
OMIM:194050	ELN	2006	HP:0000341	Narrow forehead
OMIM:194050	ELN	2006	HP:0008770	Obsessive-compulsive trait
OMIM:194050	ELN	2006	HP:0000581	Blepharophimosis
OMIM:194050	ELN	2006	HP:0000601	Hypotelorism
OMIM:194050	ELN	2006	HP:0004322	Short stature
OMIM:194050	ELN	2006	HP:0005145	Coronary artery stenosis
OMIM:194050	ELN	2006	HP:0000179	Thick lower lip vermilion
OMIM:194050	ELN	2006	HP:0001634	Mitral valve prolapse
OMIM:194050	ELN	2006	HP:0010662	Abnormality of the diencephalon
OMIM:194050	ELN	2006	HP:0000388	Otitis media
OMIM:194050	ELN	2006	HP:0001643	Patent ductus arteriosus
OMIM:194050	ELN	2006	HP:0000343	Long philtrum
OMIM:194050	ELN	2006	HP:0003028	Abnormality of the ankles
OMIM:194050	ELN	2006	HP:0003422	Vertebral segmentation defect
OMIM:194050	ELN	2006	HP:0040199	Flat midface
OMIM:194050	ELN	2006	HP:0000348	High forehead
OMIM:194050	ELN	2006	HP:0100539	Periorbital edema
OMIM:194050	ELN	2006	HP:0000545	Myopia
OMIM:194050	ELN	2006	HP:0001080	Biliary tract abnormality
OMIM:194050	ELN	2006	HP:0004209	Clinodactyly of the 5th finger
OMIM:194050	ELN	2006	HP:0002024	Malabsorption
OMIM:194050	ELN	2006	HP:0000717	Autism
OMIM:194050	ELN	2006	HP:0000125	Pelvic kidney
OMIM:194050	ELN	2006	HP:0000485	Megalocornea
OMIM:194050	ELN	2006	HP:0002974	Radioulnar synostosis
OMIM:194050	ELN	2006	HP:0005105	Abnormal nasal morphology
OMIM:194050	ELN	2006	HP:0000635	Blue irides
OMIM:194050	ELN	2006	HP:0000540	Hypermetropia
OMIM:194050	ELN	2006	HP:0001276	Hypertonia
OMIM:194050	ELN	2006	HP:0001321	Cerebellar hypoplasia
OMIM:194050	ELN	2006	HP:0001537	Umbilical hernia
OMIM:194050	ELN	2006	HP:0001288	Gait disturbance
OMIM:194050	ELN	2006	HP:0001822	Hallux valgus
OMIM:194050	ELN	2006	HP:0000083	Renal insufficiency
OMIM:194050	ELN	2006	HP:0000767	Pectus excavatum
OMIM:194050	ELN	2006	HP:0001371	Flexion contracture
OMIM:194050	ELN	2006	HP:0100000	Early onset of sexual maturation
OMIM:194050	ELN	2006	HP:0001763	Pes planus
OMIM:194050	ELN	2006	HP:0002167	Neurological speech impairment
OMIM:194050	ELN	2006	HP:0004764	Myxomatous mitral valve degeneration
OMIM:194050	ELN	2006	HP:0001653	Mitral regurgitation
OMIM:194050	ELN	2006	HP:0012450	Chronic constipation
OMIM:194050	ELN	2006	HP:0005344	Abnormality of the carotid arteries
OMIM:194050	ELN	2006	HP:0001347	Hyperreflexia
OMIM:194050	ELN	2006	HP:0000682	Abnormality of dental enamel
OMIM:194050	ELN	2006	HP:0001136	Retinal arteriolar tortuosity
OMIM:194050	ELN	2006	HP:0010747	Medial flaring of the eyebrow
OMIM:194050	ELN	2006	HP:0000795	Abnormality of the urethra
OMIM:194050	ELN	2006	HP:0000194	Open mouth
OMIM:194050	ELN	2006	HP:0002370	Poor coordination
OMIM:194050	ELN	2006	HP:0000015	Bladder diverticulum
OMIM:194050	ELN	2006	HP:0100817	Renovascular hypertension
OMIM:194050	ELN	2006	HP:0003119	Abnormality of lipid metabolism
OMIM:194050	ELN	2006	HP:0002308	Arnold-Chiari malformation
OMIM:194050	ELN	2006	HP:0000805	Enuresis
OMIM:194050	ELN	2006	HP:0010794	Impaired visuospatial constructive cognition
OMIM:194050	ELN	2006	HP:0001792	Small nail
OMIM:194050	ELN	2006	HP:0000689	Dental malocclusion
OMIM:194050	ELN	2006	HP:0002027	Abdominal pain
OMIM:194050	ELN	2006	HP:0005280	Depressed nasal bridge
OMIM:194050	ELN	2006	HP:0000407	Sensorineural hearing impairment
OMIM:194050	ELN	2006	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:194050	ELN	2006	HP:0002019	Constipation
OMIM:194050	ELN	2006	HP:0002750	Delayed skeletal maturation
OMIM:194050	ELN	2006	HP:0000293	Full cheeks
OMIM:194050	ELN	2006	HP:0009748	Large earlobe
OMIM:194050	ELN	2006	HP:0007720	Flat cornea
OMIM:194050	ELN	2006	HP:0000464	Abnormality of the neck
OMIM:194050	ELN	2006	HP:0005222	Bowel diverticulosis
OMIM:194050	ELN	2006	HP:0000368	Low-set, posteriorly rotated ears
OMIM:194050	ELN	2006	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:194050	ELN	2006	HP:0002575	Tracheoesophageal fistula
OMIM:194050	ELN	2006	HP:0000307	Pointed chin
OMIM:194050	ELN	2006	HP:0004414	Abnormality of the pulmonary artery
OMIM:194050	ELN	2006	HP:0010880	Increased nuchal translucency
OMIM:194050	ELN	2006	HP:0000280	Coarse facial features
OMIM:194050	ELN	2006	HP:0000403	Recurrent otitis media
OMIM:194050	ELN	2006	HP:0001605	Vocal cord paralysis
OMIM:194050	ELN	2006	HP:0008678	Renal hypoplasia/aplasia
OMIM:194050	ELN	2006	HP:0007018	Attention deficit hyperactivity disorder
OMIM:194050	ELN	2006	HP:0000486	Strabismus
OMIM:194050	ELN	2006	HP:0001920	Renal artery stenosis
OMIM:194050	ELN	2006	HP:0002253	Colonic diverticula
OMIM:194050	ELN	2006	HP:0000023	Inguinal hernia
OMIM:194050	ELN	2006	HP:0000821	Hypothyroidism
OMIM:194050	ELN	2006	HP:0000089	Renal hypoplasia
OMIM:194050	ELN	2006	HP:0000347	Micrognathia
OMIM:194050	ELN	2006	HP:0000232	Everted lower lip vermilion
OMIM:194050	ELN	2006	HP:0003072	Hypercalcemia
OMIM:194050	ELN	2006	HP:0000272	Malar flattening
OMIM:194050	ELN	2006	HP:0000739	Anxiety
OMIM:194050	ELN	2006	HP:0000939	Osteoporosis
OMIM:194050	ELN	2006	HP:0001337	Tremor
OMIM:194050	ELN	2006	HP:0002120	Cerebral cortical atrophy
OMIM:194050	ELN	2006	HP:0007759	Opacification of the corneal stroma
OMIM:194050	ELN	2006	HP:0000826	Precocious puberty
OMIM:194050	ELN	2006	HP:0000028	Cryptorchidism
OMIM:194050	ELN	2006	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:194050	ELN	2006	HP:0000113	Polycystic kidney dysplasia
OMIM:194050	ELN	2006	HP:0001631	Atria septal defect
OMIM:194050	ELN	2006	HP:0000154	Wide mouth
OMIM:194050	ELN	2006	HP:0000938	Osteopenia
OMIM:194050	ELN	2006	HP:0003198	Myopathy
OMIM:194050	ELN	2006	HP:0000670	Carious teeth
OMIM:194050	ELN	2006	HP:0003196	Short nose
OMIM:194050	ELN	2006	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:194050	ELN	2006	HP:0002376	Developmental regression
OMIM:194050	ELN	2006	HP:0000400	Macrotia
OMIM:194050	ELN	2006	HP:0000455	Broad nasal tip
OMIM:194050	ELN	2006	HP:0001513	Obesity
OMIM:194050	ELN	2006	HP:0002017	Nausea and vomiting
OMIM:194050	ELN	2006	HP:0001376	Limitation of joint mobility
OMIM:194050	ELN	2006	HP:0001646	Abnormality of the aortic valve
OMIM:194050	ELN	2006	HP:0000646	Amblyopia
OMIM:194050	ELN	2006	HP:0001181	Adducted thumb
OMIM:194050	ELN	2006	HP:0001636	Tetralogy of Fallot
OMIM:194050	ELN	2006	HP:0002623	Overriding aorta
OMIM:194050	ELN	2006	HP:0004305	Involuntary movements
OMIM:194050	ELN	2006	HP:0000819	Diabetes mellitus
OMIM:194050	ELN	2006	HP:0002150	Hypercalciuria
OMIM:194050	ELN	2006	HP:0100785	Insomnia
OMIM:194050	ELN	2006	HP:0001642	Pulmonic stenosis
OMIM:194050	ELN	2006	HP:0001511	Intrauterine growth retardation
OMIM:194050	ELN	2006	HP:0002751	Kyphoscoliosis
OMIM:194050	ELN	2006	HP:0000722	Obsessive-compulsive behavior
OMIM:194050	ELN	2006	HP:0000075	Renal duplication
OMIM:194050	ELN	2006	HP:0002608	Celiac disease
OMIM:194050	ELN	2006	HP:0002035	Rectal prolapse
OMIM:194050	ELN	2006	HP:0001609	Hoarse voice
OMIM:194050	ELN	2006	HP:0002020	Gastroesophageal reflux
OMIM:194050	ELN	2006	HP:0000787	Nephrolithiasis
OMIM:194050	ELN	2006	HP:0001252	Muscular hypotonia
OMIM:194050	ELN	2006	HP:0000337	Broad forehead
OMIM:194050	ELN	2006	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:194050	ELN	2006	HP:0001800	Hypoplastic toenails
OMIM:194050	ELN	2006	HP:0000025	Functional abnormality of male internal genitalia
OMIM:194050	ELN	2006	HP:0003298	Spina bifida occulta
OMIM:194050	ELN	2006	HP:0001640	Cardiomegaly
OMIM:194050	ELN	2006	HP:0002999	Patellar dislocation
OMIM:194050	ELN	2006	HP:0001629	Ventricular septal defect
OMIM:194050	ELN	2006	HP:0000629	Periorbital fullness
OMIM:194050	ELN	2006	HP:0001231	Abnormality of the fingernails
OMIM:194050	ELN	2006	HP:0001608	Abnormality of the voice
OMIM:194050	ELN	2006	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:194050	ELN	2006	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194050	ELN	2006	HP:0000010	Recurrent urinary tract infections
OMIM:194050	ELN	2006	HP:0000147	Polycystic ovaries
OMIM:194050	ELN	2006	HP:0003043	Abnormality of the shoulder
OMIM:194050	ELN	2006	HP:0000006	Autosomal dominant inheritance
OMIM:194050	ELN	2006	HP:0001388	Joint laxity
OMIM:194050	ELN	2006	HP:0000973	Cutis laxa
OMIM:194050	ELN	2006	HP:0000093	Proteinuria
OMIM:194050	ELN	2006	HP:0004295	Abnormality of the gastric mucosa
OMIM:194050	ELN	2006	HP:0002360	Sleep disturbance
OMIM:194050	ELN	2006	HP:0008661	Urethral stenosis
OMIM:194050	ELN	2006	HP:0009804	Reduced number of teeth
OMIM:194050	ELN	2006	HP:0002857	Genu valgum
OMIM:194050	ELN	2006	HP:0001633	Abnormality of the mitral valve
OMIM:194050	ELN	2006	HP:0007099	Arnold-Chiari type I malformation
OMIM:194050	ELN	2006	HP:0000627	Posterior embryotoxon
OMIM:194050	ELN	2006	HP:0002808	Kyphosis
OMIM:194050	ELN	2006	HP:0003307	Hyperlordosis
OMIM:194050	ELN	2006	HP:0001382	Joint hypermobility
OMIM:194050	ELN	2006	HP:0008872	Feeding difficulties in infancy
OMIM:194050	ELN	2006	HP:0008046	Abnormality of the retinal vasculature
OMIM:194050	ELN	2006	HP:0011001	Increased bone mineral density
OMIM:194050	ELN	2006	HP:0004381	Supravalvular aortic stenosis
OMIM:194050	ELN	2006	HP:0001297	Stroke
OMIM:194050	ELN	2006	HP:0002650	Scoliosis
OMIM:194050	ELN	2006	HP:0100543	Cognitive impairment
OMIM:194050	ELN	2006	HP:0000275	Narrow face
OMIM:194050	ELN	2006	HP:0001249	Intellectual disability
OMIM:194050	ELN	2006	HP:0000539	Abnormality of refraction
OMIM:194050	ELN	2006	HP:0001409	Portal hypertension
OMIM:194050	ELN	2006	HP:0000501	Glaucoma
OMIM:194050	ELN	2006	HP:0002637	Cerebral ischemia
OMIM:194050	ELN	2006	HP:0001531	Failure to thrive in infancy
OMIM:194050	ELN	2006	HP:0008736	Hypoplasia of penis
OMIM:194050	ELN	2006	HP:0002216	Premature graying of hair
OMIM:194050	ELN	2006	HP:0000054	Micropenis
OMIM:194050	ELN	2006	HP:0000977	Soft skin
OMIM:194050	ELN	2006	HP:0001639	Hypertrophic cardiomyopathy
OMIM:194050	ELN	2006	HP:0002183	Phonophobia
OMIM:194050	ELN	2006	HP:0001645	Sudden cardiac death
OMIM:194050	ELN	2006	HP:0000518	Cataract
OMIM:194050	ELN	2006	HP:0000668	Hypodontia
OMIM:194050	ELN	2006	HP:0000833	Glucose intolerance
OMIM:194050	ELN	2006	HP:0001635	Congestive heart failure
OMIM:194050	ELN	2006	HP:0001647	Bicuspid aortic valve
OMIM:194050	ELN	2006	HP:0000960	Sacral dimple
OMIM:194050	ELN	2006	HP:0007477	Abnormal dermatoglyphics
OMIM:194050	ELN	2006	HP:0100542	Abnormal localization of kidney
OMIM:194050	BAZ1B	9031	HP:0000632	Lacrimation abnormality
OMIM:194050	BAZ1B	9031	HP:0000691	Microdontia
OMIM:194050	BAZ1B	9031	HP:0200021	Down-sloping shoulders
OMIM:194050	BAZ1B	9031	HP:0000212	Gingival overgrowth
OMIM:194050	BAZ1B	9031	HP:0002141	Gait imbalance
OMIM:194050	BAZ1B	9031	HP:0000121	Nephrocalcinosis
OMIM:194050	BAZ1B	9031	HP:0002311	Incoordination
OMIM:194050	BAZ1B	9031	HP:0004428	Elfin facies
OMIM:194050	BAZ1B	9031	HP:0002829	Arthralgia
OMIM:194050	BAZ1B	9031	HP:0005978	Type II diabetes mellitus
OMIM:194050	BAZ1B	9031	HP:0004306	Abnormality of the endocardium
OMIM:194050	BAZ1B	9031	HP:0000252	Microcephaly
OMIM:194050	BAZ1B	9031	HP:0001677	Coronary artery disease
OMIM:194050	BAZ1B	9031	HP:0004349	Reduced bone mineral density
OMIM:194050	BAZ1B	9031	HP:0001699	Sudden death
OMIM:194050	BAZ1B	9031	HP:0000157	Abnormality of the tongue
OMIM:194050	BAZ1B	9031	HP:0000505	Visual impairment
OMIM:194050	BAZ1B	9031	HP:0002205	Recurrent respiratory infections
OMIM:194050	BAZ1B	9031	HP:0000286	Epicanthus
OMIM:194050	BAZ1B	9031	HP:0007495	Prematurely aged appearance
OMIM:194050	BAZ1B	9031	HP:0010780	Hyperacusis
OMIM:194050	BAZ1B	9031	HP:0000076	Vesicoureteral reflux
OMIM:194050	BAZ1B	9031	HP:0000341	Narrow forehead
OMIM:194050	BAZ1B	9031	HP:0008770	Obsessive-compulsive trait
OMIM:194050	BAZ1B	9031	HP:0000581	Blepharophimosis
OMIM:194050	BAZ1B	9031	HP:0000601	Hypotelorism
OMIM:194050	BAZ1B	9031	HP:0004322	Short stature
OMIM:194050	BAZ1B	9031	HP:0005145	Coronary artery stenosis
OMIM:194050	BAZ1B	9031	HP:0000179	Thick lower lip vermilion
OMIM:194050	BAZ1B	9031	HP:0001634	Mitral valve prolapse
OMIM:194050	BAZ1B	9031	HP:0010662	Abnormality of the diencephalon
OMIM:194050	BAZ1B	9031	HP:0000388	Otitis media
OMIM:194050	BAZ1B	9031	HP:0001643	Patent ductus arteriosus
OMIM:194050	BAZ1B	9031	HP:0000343	Long philtrum
OMIM:194050	BAZ1B	9031	HP:0003028	Abnormality of the ankles
OMIM:194050	BAZ1B	9031	HP:0003422	Vertebral segmentation defect
OMIM:194050	BAZ1B	9031	HP:0040199	Flat midface
OMIM:194050	BAZ1B	9031	HP:0000348	High forehead
OMIM:194050	BAZ1B	9031	HP:0100539	Periorbital edema
OMIM:194050	BAZ1B	9031	HP:0000545	Myopia
OMIM:194050	BAZ1B	9031	HP:0001080	Biliary tract abnormality
OMIM:194050	BAZ1B	9031	HP:0004209	Clinodactyly of the 5th finger
OMIM:194050	BAZ1B	9031	HP:0002024	Malabsorption
OMIM:194050	BAZ1B	9031	HP:0000717	Autism
OMIM:194050	BAZ1B	9031	HP:0000125	Pelvic kidney
OMIM:194050	BAZ1B	9031	HP:0000485	Megalocornea
OMIM:194050	BAZ1B	9031	HP:0002974	Radioulnar synostosis
OMIM:194050	BAZ1B	9031	HP:0005105	Abnormal nasal morphology
OMIM:194050	BAZ1B	9031	HP:0000635	Blue irides
OMIM:194050	BAZ1B	9031	HP:0000540	Hypermetropia
OMIM:194050	BAZ1B	9031	HP:0001276	Hypertonia
OMIM:194050	BAZ1B	9031	HP:0001321	Cerebellar hypoplasia
OMIM:194050	BAZ1B	9031	HP:0001537	Umbilical hernia
OMIM:194050	BAZ1B	9031	HP:0001288	Gait disturbance
OMIM:194050	BAZ1B	9031	HP:0001822	Hallux valgus
OMIM:194050	BAZ1B	9031	HP:0000083	Renal insufficiency
OMIM:194050	BAZ1B	9031	HP:0000767	Pectus excavatum
OMIM:194050	BAZ1B	9031	HP:0001371	Flexion contracture
OMIM:194050	BAZ1B	9031	HP:0100000	Early onset of sexual maturation
OMIM:194050	BAZ1B	9031	HP:0001763	Pes planus
OMIM:194050	BAZ1B	9031	HP:0002167	Neurological speech impairment
OMIM:194050	BAZ1B	9031	HP:0004764	Myxomatous mitral valve degeneration
OMIM:194050	BAZ1B	9031	HP:0001653	Mitral regurgitation
OMIM:194050	BAZ1B	9031	HP:0012450	Chronic constipation
OMIM:194050	BAZ1B	9031	HP:0005344	Abnormality of the carotid arteries
OMIM:194050	BAZ1B	9031	HP:0001347	Hyperreflexia
OMIM:194050	BAZ1B	9031	HP:0000682	Abnormality of dental enamel
OMIM:194050	BAZ1B	9031	HP:0001136	Retinal arteriolar tortuosity
OMIM:194050	BAZ1B	9031	HP:0010747	Medial flaring of the eyebrow
OMIM:194050	BAZ1B	9031	HP:0000795	Abnormality of the urethra
OMIM:194050	BAZ1B	9031	HP:0000194	Open mouth
OMIM:194050	BAZ1B	9031	HP:0002370	Poor coordination
OMIM:194050	BAZ1B	9031	HP:0000015	Bladder diverticulum
OMIM:194050	BAZ1B	9031	HP:0100817	Renovascular hypertension
OMIM:194050	BAZ1B	9031	HP:0003119	Abnormality of lipid metabolism
OMIM:194050	BAZ1B	9031	HP:0002308	Arnold-Chiari malformation
OMIM:194050	BAZ1B	9031	HP:0000805	Enuresis
OMIM:194050	BAZ1B	9031	HP:0010794	Impaired visuospatial constructive cognition
OMIM:194050	BAZ1B	9031	HP:0001792	Small nail
OMIM:194050	BAZ1B	9031	HP:0000689	Dental malocclusion
OMIM:194050	BAZ1B	9031	HP:0002027	Abdominal pain
OMIM:194050	BAZ1B	9031	HP:0005280	Depressed nasal bridge
OMIM:194050	BAZ1B	9031	HP:0000407	Sensorineural hearing impairment
OMIM:194050	BAZ1B	9031	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:194050	BAZ1B	9031	HP:0002019	Constipation
OMIM:194050	BAZ1B	9031	HP:0002750	Delayed skeletal maturation
OMIM:194050	BAZ1B	9031	HP:0000293	Full cheeks
OMIM:194050	BAZ1B	9031	HP:0009748	Large earlobe
OMIM:194050	BAZ1B	9031	HP:0007720	Flat cornea
OMIM:194050	BAZ1B	9031	HP:0000464	Abnormality of the neck
OMIM:194050	BAZ1B	9031	HP:0005222	Bowel diverticulosis
OMIM:194050	BAZ1B	9031	HP:0000368	Low-set, posteriorly rotated ears
OMIM:194050	BAZ1B	9031	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:194050	BAZ1B	9031	HP:0002575	Tracheoesophageal fistula
OMIM:194050	BAZ1B	9031	HP:0000307	Pointed chin
OMIM:194050	BAZ1B	9031	HP:0004414	Abnormality of the pulmonary artery
OMIM:194050	BAZ1B	9031	HP:0010880	Increased nuchal translucency
OMIM:194050	BAZ1B	9031	HP:0000280	Coarse facial features
OMIM:194050	BAZ1B	9031	HP:0000403	Recurrent otitis media
OMIM:194050	BAZ1B	9031	HP:0001605	Vocal cord paralysis
OMIM:194050	BAZ1B	9031	HP:0008678	Renal hypoplasia/aplasia
OMIM:194050	BAZ1B	9031	HP:0007018	Attention deficit hyperactivity disorder
OMIM:194050	BAZ1B	9031	HP:0000486	Strabismus
OMIM:194050	BAZ1B	9031	HP:0001920	Renal artery stenosis
OMIM:194050	BAZ1B	9031	HP:0002253	Colonic diverticula
OMIM:194050	BAZ1B	9031	HP:0000023	Inguinal hernia
OMIM:194050	BAZ1B	9031	HP:0000821	Hypothyroidism
OMIM:194050	BAZ1B	9031	HP:0000089	Renal hypoplasia
OMIM:194050	BAZ1B	9031	HP:0000347	Micrognathia
OMIM:194050	BAZ1B	9031	HP:0000232	Everted lower lip vermilion
OMIM:194050	BAZ1B	9031	HP:0003072	Hypercalcemia
OMIM:194050	BAZ1B	9031	HP:0000272	Malar flattening
OMIM:194050	BAZ1B	9031	HP:0000739	Anxiety
OMIM:194050	BAZ1B	9031	HP:0000939	Osteoporosis
OMIM:194050	BAZ1B	9031	HP:0001337	Tremor
OMIM:194050	BAZ1B	9031	HP:0002120	Cerebral cortical atrophy
OMIM:194050	BAZ1B	9031	HP:0007759	Opacification of the corneal stroma
OMIM:194050	BAZ1B	9031	HP:0000826	Precocious puberty
OMIM:194050	BAZ1B	9031	HP:0000028	Cryptorchidism
OMIM:194050	BAZ1B	9031	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:194050	BAZ1B	9031	HP:0000113	Polycystic kidney dysplasia
OMIM:194050	BAZ1B	9031	HP:0001631	Atria septal defect
OMIM:194050	BAZ1B	9031	HP:0000154	Wide mouth
OMIM:194050	BAZ1B	9031	HP:0000938	Osteopenia
OMIM:194050	BAZ1B	9031	HP:0003198	Myopathy
OMIM:194050	BAZ1B	9031	HP:0000670	Carious teeth
OMIM:194050	BAZ1B	9031	HP:0003196	Short nose
OMIM:194050	BAZ1B	9031	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:194050	BAZ1B	9031	HP:0002376	Developmental regression
OMIM:194050	BAZ1B	9031	HP:0000400	Macrotia
OMIM:194050	BAZ1B	9031	HP:0000455	Broad nasal tip
OMIM:194050	BAZ1B	9031	HP:0001513	Obesity
OMIM:194050	BAZ1B	9031	HP:0002017	Nausea and vomiting
OMIM:194050	BAZ1B	9031	HP:0001376	Limitation of joint mobility
OMIM:194050	BAZ1B	9031	HP:0001646	Abnormality of the aortic valve
OMIM:194050	BAZ1B	9031	HP:0000646	Amblyopia
OMIM:194050	BAZ1B	9031	HP:0001181	Adducted thumb
OMIM:194050	BAZ1B	9031	HP:0001636	Tetralogy of Fallot
OMIM:194050	BAZ1B	9031	HP:0002623	Overriding aorta
OMIM:194050	BAZ1B	9031	HP:0004305	Involuntary movements
OMIM:194050	BAZ1B	9031	HP:0000819	Diabetes mellitus
OMIM:194050	BAZ1B	9031	HP:0002150	Hypercalciuria
OMIM:194050	BAZ1B	9031	HP:0100785	Insomnia
OMIM:194050	BAZ1B	9031	HP:0001642	Pulmonic stenosis
OMIM:194050	BAZ1B	9031	HP:0001511	Intrauterine growth retardation
OMIM:194050	BAZ1B	9031	HP:0002751	Kyphoscoliosis
OMIM:194050	BAZ1B	9031	HP:0000722	Obsessive-compulsive behavior
OMIM:194050	BAZ1B	9031	HP:0000075	Renal duplication
OMIM:194050	BAZ1B	9031	HP:0002608	Celiac disease
OMIM:194050	BAZ1B	9031	HP:0002035	Rectal prolapse
OMIM:194050	BAZ1B	9031	HP:0001609	Hoarse voice
OMIM:194050	BAZ1B	9031	HP:0002020	Gastroesophageal reflux
OMIM:194050	BAZ1B	9031	HP:0000787	Nephrolithiasis
OMIM:194050	BAZ1B	9031	HP:0001252	Muscular hypotonia
OMIM:194050	BAZ1B	9031	HP:0000337	Broad forehead
OMIM:194050	BAZ1B	9031	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:194050	BAZ1B	9031	HP:0001800	Hypoplastic toenails
OMIM:194050	BAZ1B	9031	HP:0000025	Functional abnormality of male internal genitalia
OMIM:194050	BAZ1B	9031	HP:0003298	Spina bifida occulta
OMIM:194050	BAZ1B	9031	HP:0001640	Cardiomegaly
OMIM:194050	BAZ1B	9031	HP:0002999	Patellar dislocation
OMIM:194050	BAZ1B	9031	HP:0001629	Ventricular septal defect
OMIM:194050	BAZ1B	9031	HP:0000629	Periorbital fullness
OMIM:194050	BAZ1B	9031	HP:0001231	Abnormality of the fingernails
OMIM:194050	BAZ1B	9031	HP:0001608	Abnormality of the voice
OMIM:194050	BAZ1B	9031	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:194050	BAZ1B	9031	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194050	BAZ1B	9031	HP:0000010	Recurrent urinary tract infections
OMIM:194050	BAZ1B	9031	HP:0000147	Polycystic ovaries
OMIM:194050	BAZ1B	9031	HP:0003043	Abnormality of the shoulder
OMIM:194050	BAZ1B	9031	HP:0000006	Autosomal dominant inheritance
OMIM:194050	BAZ1B	9031	HP:0001388	Joint laxity
OMIM:194050	BAZ1B	9031	HP:0000973	Cutis laxa
OMIM:194050	BAZ1B	9031	HP:0000093	Proteinuria
OMIM:194050	BAZ1B	9031	HP:0004295	Abnormality of the gastric mucosa
OMIM:194050	BAZ1B	9031	HP:0002360	Sleep disturbance
OMIM:194050	BAZ1B	9031	HP:0008661	Urethral stenosis
OMIM:194050	BAZ1B	9031	HP:0009804	Reduced number of teeth
OMIM:194050	BAZ1B	9031	HP:0002857	Genu valgum
OMIM:194050	BAZ1B	9031	HP:0001633	Abnormality of the mitral valve
OMIM:194050	BAZ1B	9031	HP:0007099	Arnold-Chiari type I malformation
OMIM:194050	BAZ1B	9031	HP:0000627	Posterior embryotoxon
OMIM:194050	BAZ1B	9031	HP:0002808	Kyphosis
OMIM:194050	BAZ1B	9031	HP:0003307	Hyperlordosis
OMIM:194050	BAZ1B	9031	HP:0001382	Joint hypermobility
OMIM:194050	BAZ1B	9031	HP:0008872	Feeding difficulties in infancy
OMIM:194050	BAZ1B	9031	HP:0008046	Abnormality of the retinal vasculature
OMIM:194050	BAZ1B	9031	HP:0011001	Increased bone mineral density
OMIM:194050	BAZ1B	9031	HP:0004381	Supravalvular aortic stenosis
OMIM:194050	BAZ1B	9031	HP:0001297	Stroke
OMIM:194050	BAZ1B	9031	HP:0002650	Scoliosis
OMIM:194050	BAZ1B	9031	HP:0100543	Cognitive impairment
OMIM:194050	BAZ1B	9031	HP:0000275	Narrow face
OMIM:194050	BAZ1B	9031	HP:0001249	Intellectual disability
OMIM:194050	BAZ1B	9031	HP:0000539	Abnormality of refraction
OMIM:194050	BAZ1B	9031	HP:0001409	Portal hypertension
OMIM:194050	BAZ1B	9031	HP:0000501	Glaucoma
OMIM:194050	BAZ1B	9031	HP:0002637	Cerebral ischemia
OMIM:194050	BAZ1B	9031	HP:0001531	Failure to thrive in infancy
OMIM:194050	BAZ1B	9031	HP:0008736	Hypoplasia of penis
OMIM:194050	BAZ1B	9031	HP:0002216	Premature graying of hair
OMIM:194050	BAZ1B	9031	HP:0000054	Micropenis
OMIM:194050	BAZ1B	9031	HP:0000977	Soft skin
OMIM:194050	BAZ1B	9031	HP:0001639	Hypertrophic cardiomyopathy
OMIM:194050	BAZ1B	9031	HP:0002183	Phonophobia
OMIM:194050	BAZ1B	9031	HP:0001645	Sudden cardiac death
OMIM:194050	BAZ1B	9031	HP:0000518	Cataract
OMIM:194050	BAZ1B	9031	HP:0000668	Hypodontia
OMIM:194050	BAZ1B	9031	HP:0000833	Glucose intolerance
OMIM:194050	BAZ1B	9031	HP:0001635	Congestive heart failure
OMIM:194050	BAZ1B	9031	HP:0001647	Bicuspid aortic valve
OMIM:194050	BAZ1B	9031	HP:0000960	Sacral dimple
OMIM:194050	BAZ1B	9031	HP:0007477	Abnormal dermatoglyphics
OMIM:194050	BAZ1B	9031	HP:0100542	Abnormal localization of kidney
OMIM:194050	GTF2I	2969	HP:0000632	Lacrimation abnormality
OMIM:194050	GTF2I	2969	HP:0000691	Microdontia
OMIM:194050	GTF2I	2969	HP:0200021	Down-sloping shoulders
OMIM:194050	GTF2I	2969	HP:0000212	Gingival overgrowth
OMIM:194050	GTF2I	2969	HP:0002141	Gait imbalance
OMIM:194050	GTF2I	2969	HP:0000121	Nephrocalcinosis
OMIM:194050	GTF2I	2969	HP:0002311	Incoordination
OMIM:194050	GTF2I	2969	HP:0004428	Elfin facies
OMIM:194050	GTF2I	2969	HP:0002829	Arthralgia
OMIM:194050	GTF2I	2969	HP:0005978	Type II diabetes mellitus
OMIM:194050	GTF2I	2969	HP:0004306	Abnormality of the endocardium
OMIM:194050	GTF2I	2969	HP:0000252	Microcephaly
OMIM:194050	GTF2I	2969	HP:0001677	Coronary artery disease
OMIM:194050	GTF2I	2969	HP:0004349	Reduced bone mineral density
OMIM:194050	GTF2I	2969	HP:0001699	Sudden death
OMIM:194050	GTF2I	2969	HP:0000157	Abnormality of the tongue
OMIM:194050	GTF2I	2969	HP:0000505	Visual impairment
OMIM:194050	GTF2I	2969	HP:0002205	Recurrent respiratory infections
OMIM:194050	GTF2I	2969	HP:0000286	Epicanthus
OMIM:194050	GTF2I	2969	HP:0007495	Prematurely aged appearance
OMIM:194050	GTF2I	2969	HP:0010780	Hyperacusis
OMIM:194050	GTF2I	2969	HP:0000076	Vesicoureteral reflux
OMIM:194050	GTF2I	2969	HP:0000341	Narrow forehead
OMIM:194050	GTF2I	2969	HP:0008770	Obsessive-compulsive trait
OMIM:194050	GTF2I	2969	HP:0000581	Blepharophimosis
OMIM:194050	GTF2I	2969	HP:0000601	Hypotelorism
OMIM:194050	GTF2I	2969	HP:0004322	Short stature
OMIM:194050	GTF2I	2969	HP:0005145	Coronary artery stenosis
OMIM:194050	GTF2I	2969	HP:0000179	Thick lower lip vermilion
OMIM:194050	GTF2I	2969	HP:0001634	Mitral valve prolapse
OMIM:194050	GTF2I	2969	HP:0010662	Abnormality of the diencephalon
OMIM:194050	GTF2I	2969	HP:0000388	Otitis media
OMIM:194050	GTF2I	2969	HP:0001643	Patent ductus arteriosus
OMIM:194050	GTF2I	2969	HP:0000343	Long philtrum
OMIM:194050	GTF2I	2969	HP:0003028	Abnormality of the ankles
OMIM:194050	GTF2I	2969	HP:0003422	Vertebral segmentation defect
OMIM:194050	GTF2I	2969	HP:0040199	Flat midface
OMIM:194050	GTF2I	2969	HP:0000348	High forehead
OMIM:194050	GTF2I	2969	HP:0100539	Periorbital edema
OMIM:194050	GTF2I	2969	HP:0000545	Myopia
OMIM:194050	GTF2I	2969	HP:0001080	Biliary tract abnormality
OMIM:194050	GTF2I	2969	HP:0004209	Clinodactyly of the 5th finger
OMIM:194050	GTF2I	2969	HP:0002024	Malabsorption
OMIM:194050	GTF2I	2969	HP:0000717	Autism
OMIM:194050	GTF2I	2969	HP:0000125	Pelvic kidney
OMIM:194050	GTF2I	2969	HP:0000485	Megalocornea
OMIM:194050	GTF2I	2969	HP:0002974	Radioulnar synostosis
OMIM:194050	GTF2I	2969	HP:0005105	Abnormal nasal morphology
OMIM:194050	GTF2I	2969	HP:0000635	Blue irides
OMIM:194050	GTF2I	2969	HP:0000540	Hypermetropia
OMIM:194050	GTF2I	2969	HP:0001276	Hypertonia
OMIM:194050	GTF2I	2969	HP:0001321	Cerebellar hypoplasia
OMIM:194050	GTF2I	2969	HP:0001537	Umbilical hernia
OMIM:194050	GTF2I	2969	HP:0001288	Gait disturbance
OMIM:194050	GTF2I	2969	HP:0001822	Hallux valgus
OMIM:194050	GTF2I	2969	HP:0000083	Renal insufficiency
OMIM:194050	GTF2I	2969	HP:0000767	Pectus excavatum
OMIM:194050	GTF2I	2969	HP:0001371	Flexion contracture
OMIM:194050	GTF2I	2969	HP:0100000	Early onset of sexual maturation
OMIM:194050	GTF2I	2969	HP:0001763	Pes planus
OMIM:194050	GTF2I	2969	HP:0002167	Neurological speech impairment
OMIM:194050	GTF2I	2969	HP:0004764	Myxomatous mitral valve degeneration
OMIM:194050	GTF2I	2969	HP:0001653	Mitral regurgitation
OMIM:194050	GTF2I	2969	HP:0012450	Chronic constipation
OMIM:194050	GTF2I	2969	HP:0005344	Abnormality of the carotid arteries
OMIM:194050	GTF2I	2969	HP:0001347	Hyperreflexia
OMIM:194050	GTF2I	2969	HP:0000682	Abnormality of dental enamel
OMIM:194050	GTF2I	2969	HP:0001136	Retinal arteriolar tortuosity
OMIM:194050	GTF2I	2969	HP:0010747	Medial flaring of the eyebrow
OMIM:194050	GTF2I	2969	HP:0000795	Abnormality of the urethra
OMIM:194050	GTF2I	2969	HP:0000194	Open mouth
OMIM:194050	GTF2I	2969	HP:0002370	Poor coordination
OMIM:194050	GTF2I	2969	HP:0000015	Bladder diverticulum
OMIM:194050	GTF2I	2969	HP:0100817	Renovascular hypertension
OMIM:194050	GTF2I	2969	HP:0003119	Abnormality of lipid metabolism
OMIM:194050	GTF2I	2969	HP:0002308	Arnold-Chiari malformation
OMIM:194050	GTF2I	2969	HP:0000805	Enuresis
OMIM:194050	GTF2I	2969	HP:0010794	Impaired visuospatial constructive cognition
OMIM:194050	GTF2I	2969	HP:0001792	Small nail
OMIM:194050	GTF2I	2969	HP:0000689	Dental malocclusion
OMIM:194050	GTF2I	2969	HP:0002027	Abdominal pain
OMIM:194050	GTF2I	2969	HP:0005280	Depressed nasal bridge
OMIM:194050	GTF2I	2969	HP:0000407	Sensorineural hearing impairment
OMIM:194050	GTF2I	2969	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:194050	GTF2I	2969	HP:0002019	Constipation
OMIM:194050	GTF2I	2969	HP:0002750	Delayed skeletal maturation
OMIM:194050	GTF2I	2969	HP:0000293	Full cheeks
OMIM:194050	GTF2I	2969	HP:0009748	Large earlobe
OMIM:194050	GTF2I	2969	HP:0007720	Flat cornea
OMIM:194050	GTF2I	2969	HP:0000464	Abnormality of the neck
OMIM:194050	GTF2I	2969	HP:0005222	Bowel diverticulosis
OMIM:194050	GTF2I	2969	HP:0000368	Low-set, posteriorly rotated ears
OMIM:194050	GTF2I	2969	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:194050	GTF2I	2969	HP:0002575	Tracheoesophageal fistula
OMIM:194050	GTF2I	2969	HP:0000307	Pointed chin
OMIM:194050	GTF2I	2969	HP:0004414	Abnormality of the pulmonary artery
OMIM:194050	GTF2I	2969	HP:0010880	Increased nuchal translucency
OMIM:194050	GTF2I	2969	HP:0000280	Coarse facial features
OMIM:194050	GTF2I	2969	HP:0000403	Recurrent otitis media
OMIM:194050	GTF2I	2969	HP:0001605	Vocal cord paralysis
OMIM:194050	GTF2I	2969	HP:0008678	Renal hypoplasia/aplasia
OMIM:194050	GTF2I	2969	HP:0007018	Attention deficit hyperactivity disorder
OMIM:194050	GTF2I	2969	HP:0000486	Strabismus
OMIM:194050	GTF2I	2969	HP:0001920	Renal artery stenosis
OMIM:194050	GTF2I	2969	HP:0002253	Colonic diverticula
OMIM:194050	GTF2I	2969	HP:0000023	Inguinal hernia
OMIM:194050	GTF2I	2969	HP:0000821	Hypothyroidism
OMIM:194050	GTF2I	2969	HP:0000089	Renal hypoplasia
OMIM:194050	GTF2I	2969	HP:0000347	Micrognathia
OMIM:194050	GTF2I	2969	HP:0000232	Everted lower lip vermilion
OMIM:194050	GTF2I	2969	HP:0003072	Hypercalcemia
OMIM:194050	GTF2I	2969	HP:0000272	Malar flattening
OMIM:194050	GTF2I	2969	HP:0000739	Anxiety
OMIM:194050	GTF2I	2969	HP:0000939	Osteoporosis
OMIM:194050	GTF2I	2969	HP:0001337	Tremor
OMIM:194050	GTF2I	2969	HP:0002120	Cerebral cortical atrophy
OMIM:194050	GTF2I	2969	HP:0007759	Opacification of the corneal stroma
OMIM:194050	GTF2I	2969	HP:0000826	Precocious puberty
OMIM:194050	GTF2I	2969	HP:0000028	Cryptorchidism
OMIM:194050	GTF2I	2969	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:194050	GTF2I	2969	HP:0000113	Polycystic kidney dysplasia
OMIM:194050	GTF2I	2969	HP:0001631	Atria septal defect
OMIM:194050	GTF2I	2969	HP:0000154	Wide mouth
OMIM:194050	GTF2I	2969	HP:0000938	Osteopenia
OMIM:194050	GTF2I	2969	HP:0003198	Myopathy
OMIM:194050	GTF2I	2969	HP:0000670	Carious teeth
OMIM:194050	GTF2I	2969	HP:0003196	Short nose
OMIM:194050	GTF2I	2969	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:194050	GTF2I	2969	HP:0002376	Developmental regression
OMIM:194050	GTF2I	2969	HP:0000400	Macrotia
OMIM:194050	GTF2I	2969	HP:0000455	Broad nasal tip
OMIM:194050	GTF2I	2969	HP:0001513	Obesity
OMIM:194050	GTF2I	2969	HP:0002017	Nausea and vomiting
OMIM:194050	GTF2I	2969	HP:0001376	Limitation of joint mobility
OMIM:194050	GTF2I	2969	HP:0001646	Abnormality of the aortic valve
OMIM:194050	GTF2I	2969	HP:0000646	Amblyopia
OMIM:194050	GTF2I	2969	HP:0001181	Adducted thumb
OMIM:194050	GTF2I	2969	HP:0001636	Tetralogy of Fallot
OMIM:194050	GTF2I	2969	HP:0002623	Overriding aorta
OMIM:194050	GTF2I	2969	HP:0004305	Involuntary movements
OMIM:194050	GTF2I	2969	HP:0000819	Diabetes mellitus
OMIM:194050	GTF2I	2969	HP:0002150	Hypercalciuria
OMIM:194050	GTF2I	2969	HP:0100785	Insomnia
OMIM:194050	GTF2I	2969	HP:0001642	Pulmonic stenosis
OMIM:194050	GTF2I	2969	HP:0001511	Intrauterine growth retardation
OMIM:194050	GTF2I	2969	HP:0002751	Kyphoscoliosis
OMIM:194050	GTF2I	2969	HP:0000722	Obsessive-compulsive behavior
OMIM:194050	GTF2I	2969	HP:0000075	Renal duplication
OMIM:194050	GTF2I	2969	HP:0002608	Celiac disease
OMIM:194050	GTF2I	2969	HP:0002035	Rectal prolapse
OMIM:194050	GTF2I	2969	HP:0001609	Hoarse voice
OMIM:194050	GTF2I	2969	HP:0002020	Gastroesophageal reflux
OMIM:194050	GTF2I	2969	HP:0000787	Nephrolithiasis
OMIM:194050	GTF2I	2969	HP:0001252	Muscular hypotonia
OMIM:194050	GTF2I	2969	HP:0000337	Broad forehead
OMIM:194050	GTF2I	2969	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:194050	GTF2I	2969	HP:0001800	Hypoplastic toenails
OMIM:194050	GTF2I	2969	HP:0000025	Functional abnormality of male internal genitalia
OMIM:194050	GTF2I	2969	HP:0003298	Spina bifida occulta
OMIM:194050	GTF2I	2969	HP:0001640	Cardiomegaly
OMIM:194050	GTF2I	2969	HP:0002999	Patellar dislocation
OMIM:194050	GTF2I	2969	HP:0001629	Ventricular septal defect
OMIM:194050	GTF2I	2969	HP:0000629	Periorbital fullness
OMIM:194050	GTF2I	2969	HP:0001231	Abnormality of the fingernails
OMIM:194050	GTF2I	2969	HP:0001608	Abnormality of the voice
OMIM:194050	GTF2I	2969	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:194050	GTF2I	2969	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194050	GTF2I	2969	HP:0000010	Recurrent urinary tract infections
OMIM:194050	GTF2I	2969	HP:0000147	Polycystic ovaries
OMIM:194050	GTF2I	2969	HP:0003043	Abnormality of the shoulder
OMIM:194050	GTF2I	2969	HP:0000006	Autosomal dominant inheritance
OMIM:194050	GTF2I	2969	HP:0001388	Joint laxity
OMIM:194050	GTF2I	2969	HP:0000973	Cutis laxa
OMIM:194050	GTF2I	2969	HP:0000093	Proteinuria
OMIM:194050	GTF2I	2969	HP:0004295	Abnormality of the gastric mucosa
OMIM:194050	GTF2I	2969	HP:0002360	Sleep disturbance
OMIM:194050	GTF2I	2969	HP:0008661	Urethral stenosis
OMIM:194050	GTF2I	2969	HP:0009804	Reduced number of teeth
OMIM:194050	GTF2I	2969	HP:0002857	Genu valgum
OMIM:194050	GTF2I	2969	HP:0001633	Abnormality of the mitral valve
OMIM:194050	GTF2I	2969	HP:0007099	Arnold-Chiari type I malformation
OMIM:194050	GTF2I	2969	HP:0000627	Posterior embryotoxon
OMIM:194050	GTF2I	2969	HP:0002808	Kyphosis
OMIM:194050	GTF2I	2969	HP:0003307	Hyperlordosis
OMIM:194050	GTF2I	2969	HP:0001382	Joint hypermobility
OMIM:194050	GTF2I	2969	HP:0008872	Feeding difficulties in infancy
OMIM:194050	GTF2I	2969	HP:0008046	Abnormality of the retinal vasculature
OMIM:194050	GTF2I	2969	HP:0011001	Increased bone mineral density
OMIM:194050	GTF2I	2969	HP:0004381	Supravalvular aortic stenosis
OMIM:194050	GTF2I	2969	HP:0001297	Stroke
OMIM:194050	GTF2I	2969	HP:0002650	Scoliosis
OMIM:194050	GTF2I	2969	HP:0100543	Cognitive impairment
OMIM:194050	GTF2I	2969	HP:0000275	Narrow face
OMIM:194050	GTF2I	2969	HP:0001249	Intellectual disability
OMIM:194050	GTF2I	2969	HP:0000539	Abnormality of refraction
OMIM:194050	GTF2I	2969	HP:0001409	Portal hypertension
OMIM:194050	GTF2I	2969	HP:0000501	Glaucoma
OMIM:194050	GTF2I	2969	HP:0002637	Cerebral ischemia
OMIM:194050	GTF2I	2969	HP:0001531	Failure to thrive in infancy
OMIM:194050	GTF2I	2969	HP:0008736	Hypoplasia of penis
OMIM:194050	GTF2I	2969	HP:0002216	Premature graying of hair
OMIM:194050	GTF2I	2969	HP:0000054	Micropenis
OMIM:194050	GTF2I	2969	HP:0000977	Soft skin
OMIM:194050	GTF2I	2969	HP:0001639	Hypertrophic cardiomyopathy
OMIM:194050	GTF2I	2969	HP:0002183	Phonophobia
OMIM:194050	GTF2I	2969	HP:0001645	Sudden cardiac death
OMIM:194050	GTF2I	2969	HP:0000518	Cataract
OMIM:194050	GTF2I	2969	HP:0000668	Hypodontia
OMIM:194050	GTF2I	2969	HP:0000833	Glucose intolerance
OMIM:194050	GTF2I	2969	HP:0001635	Congestive heart failure
OMIM:194050	GTF2I	2969	HP:0001647	Bicuspid aortic valve
OMIM:194050	GTF2I	2969	HP:0000960	Sacral dimple
OMIM:194050	GTF2I	2969	HP:0007477	Abnormal dermatoglyphics
OMIM:194050	GTF2I	2969	HP:0100542	Abnormal localization of kidney
OMIM:194050	RFC2	5982	HP:0000632	Lacrimation abnormality
OMIM:194050	RFC2	5982	HP:0000691	Microdontia
OMIM:194050	RFC2	5982	HP:0200021	Down-sloping shoulders
OMIM:194050	RFC2	5982	HP:0000212	Gingival overgrowth
OMIM:194050	RFC2	5982	HP:0002141	Gait imbalance
OMIM:194050	RFC2	5982	HP:0000121	Nephrocalcinosis
OMIM:194050	RFC2	5982	HP:0002311	Incoordination
OMIM:194050	RFC2	5982	HP:0004428	Elfin facies
OMIM:194050	RFC2	5982	HP:0002829	Arthralgia
OMIM:194050	RFC2	5982	HP:0005978	Type II diabetes mellitus
OMIM:194050	RFC2	5982	HP:0004306	Abnormality of the endocardium
OMIM:194050	RFC2	5982	HP:0000252	Microcephaly
OMIM:194050	RFC2	5982	HP:0001677	Coronary artery disease
OMIM:194050	RFC2	5982	HP:0004349	Reduced bone mineral density
OMIM:194050	RFC2	5982	HP:0001699	Sudden death
OMIM:194050	RFC2	5982	HP:0000157	Abnormality of the tongue
OMIM:194050	RFC2	5982	HP:0000505	Visual impairment
OMIM:194050	RFC2	5982	HP:0002205	Recurrent respiratory infections
OMIM:194050	RFC2	5982	HP:0000286	Epicanthus
OMIM:194050	RFC2	5982	HP:0007495	Prematurely aged appearance
OMIM:194050	RFC2	5982	HP:0010780	Hyperacusis
OMIM:194050	RFC2	5982	HP:0000076	Vesicoureteral reflux
OMIM:194050	RFC2	5982	HP:0000341	Narrow forehead
OMIM:194050	RFC2	5982	HP:0008770	Obsessive-compulsive trait
OMIM:194050	RFC2	5982	HP:0000581	Blepharophimosis
OMIM:194050	RFC2	5982	HP:0000601	Hypotelorism
OMIM:194050	RFC2	5982	HP:0004322	Short stature
OMIM:194050	RFC2	5982	HP:0005145	Coronary artery stenosis
OMIM:194050	RFC2	5982	HP:0000179	Thick lower lip vermilion
OMIM:194050	RFC2	5982	HP:0001634	Mitral valve prolapse
OMIM:194050	RFC2	5982	HP:0010662	Abnormality of the diencephalon
OMIM:194050	RFC2	5982	HP:0000388	Otitis media
OMIM:194050	RFC2	5982	HP:0001643	Patent ductus arteriosus
OMIM:194050	RFC2	5982	HP:0000343	Long philtrum
OMIM:194050	RFC2	5982	HP:0003028	Abnormality of the ankles
OMIM:194050	RFC2	5982	HP:0003422	Vertebral segmentation defect
OMIM:194050	RFC2	5982	HP:0040199	Flat midface
OMIM:194050	RFC2	5982	HP:0000348	High forehead
OMIM:194050	RFC2	5982	HP:0100539	Periorbital edema
OMIM:194050	RFC2	5982	HP:0000545	Myopia
OMIM:194050	RFC2	5982	HP:0001080	Biliary tract abnormality
OMIM:194050	RFC2	5982	HP:0004209	Clinodactyly of the 5th finger
OMIM:194050	RFC2	5982	HP:0002024	Malabsorption
OMIM:194050	RFC2	5982	HP:0000717	Autism
OMIM:194050	RFC2	5982	HP:0000125	Pelvic kidney
OMIM:194050	RFC2	5982	HP:0000485	Megalocornea
OMIM:194050	RFC2	5982	HP:0002974	Radioulnar synostosis
OMIM:194050	RFC2	5982	HP:0005105	Abnormal nasal morphology
OMIM:194050	RFC2	5982	HP:0000635	Blue irides
OMIM:194050	RFC2	5982	HP:0000540	Hypermetropia
OMIM:194050	RFC2	5982	HP:0001276	Hypertonia
OMIM:194050	RFC2	5982	HP:0001321	Cerebellar hypoplasia
OMIM:194050	RFC2	5982	HP:0001537	Umbilical hernia
OMIM:194050	RFC2	5982	HP:0001288	Gait disturbance
OMIM:194050	RFC2	5982	HP:0001822	Hallux valgus
OMIM:194050	RFC2	5982	HP:0000083	Renal insufficiency
OMIM:194050	RFC2	5982	HP:0000767	Pectus excavatum
OMIM:194050	RFC2	5982	HP:0001371	Flexion contracture
OMIM:194050	RFC2	5982	HP:0100000	Early onset of sexual maturation
OMIM:194050	RFC2	5982	HP:0001763	Pes planus
OMIM:194050	RFC2	5982	HP:0002167	Neurological speech impairment
OMIM:194050	RFC2	5982	HP:0004764	Myxomatous mitral valve degeneration
OMIM:194050	RFC2	5982	HP:0001653	Mitral regurgitation
OMIM:194050	RFC2	5982	HP:0012450	Chronic constipation
OMIM:194050	RFC2	5982	HP:0005344	Abnormality of the carotid arteries
OMIM:194050	RFC2	5982	HP:0001347	Hyperreflexia
OMIM:194050	RFC2	5982	HP:0000682	Abnormality of dental enamel
OMIM:194050	RFC2	5982	HP:0001136	Retinal arteriolar tortuosity
OMIM:194050	RFC2	5982	HP:0010747	Medial flaring of the eyebrow
OMIM:194050	RFC2	5982	HP:0000795	Abnormality of the urethra
OMIM:194050	RFC2	5982	HP:0000194	Open mouth
OMIM:194050	RFC2	5982	HP:0002370	Poor coordination
OMIM:194050	RFC2	5982	HP:0000015	Bladder diverticulum
OMIM:194050	RFC2	5982	HP:0100817	Renovascular hypertension
OMIM:194050	RFC2	5982	HP:0003119	Abnormality of lipid metabolism
OMIM:194050	RFC2	5982	HP:0002308	Arnold-Chiari malformation
OMIM:194050	RFC2	5982	HP:0000805	Enuresis
OMIM:194050	RFC2	5982	HP:0010794	Impaired visuospatial constructive cognition
OMIM:194050	RFC2	5982	HP:0001792	Small nail
OMIM:194050	RFC2	5982	HP:0000689	Dental malocclusion
OMIM:194050	RFC2	5982	HP:0002027	Abdominal pain
OMIM:194050	RFC2	5982	HP:0005280	Depressed nasal bridge
OMIM:194050	RFC2	5982	HP:0000407	Sensorineural hearing impairment
OMIM:194050	RFC2	5982	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:194050	RFC2	5982	HP:0002019	Constipation
OMIM:194050	RFC2	5982	HP:0002750	Delayed skeletal maturation
OMIM:194050	RFC2	5982	HP:0000293	Full cheeks
OMIM:194050	RFC2	5982	HP:0009748	Large earlobe
OMIM:194050	RFC2	5982	HP:0007720	Flat cornea
OMIM:194050	RFC2	5982	HP:0000464	Abnormality of the neck
OMIM:194050	RFC2	5982	HP:0005222	Bowel diverticulosis
OMIM:194050	RFC2	5982	HP:0000368	Low-set, posteriorly rotated ears
OMIM:194050	RFC2	5982	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:194050	RFC2	5982	HP:0002575	Tracheoesophageal fistula
OMIM:194050	RFC2	5982	HP:0000307	Pointed chin
OMIM:194050	RFC2	5982	HP:0004414	Abnormality of the pulmonary artery
OMIM:194050	RFC2	5982	HP:0010880	Increased nuchal translucency
OMIM:194050	RFC2	5982	HP:0000280	Coarse facial features
OMIM:194050	RFC2	5982	HP:0000403	Recurrent otitis media
OMIM:194050	RFC2	5982	HP:0001605	Vocal cord paralysis
OMIM:194050	RFC2	5982	HP:0008678	Renal hypoplasia/aplasia
OMIM:194050	RFC2	5982	HP:0007018	Attention deficit hyperactivity disorder
OMIM:194050	RFC2	5982	HP:0000486	Strabismus
OMIM:194050	RFC2	5982	HP:0001920	Renal artery stenosis
OMIM:194050	RFC2	5982	HP:0002253	Colonic diverticula
OMIM:194050	RFC2	5982	HP:0000023	Inguinal hernia
OMIM:194050	RFC2	5982	HP:0000821	Hypothyroidism
OMIM:194050	RFC2	5982	HP:0000089	Renal hypoplasia
OMIM:194050	RFC2	5982	HP:0000347	Micrognathia
OMIM:194050	RFC2	5982	HP:0000232	Everted lower lip vermilion
OMIM:194050	RFC2	5982	HP:0003072	Hypercalcemia
OMIM:194050	RFC2	5982	HP:0000272	Malar flattening
OMIM:194050	RFC2	5982	HP:0000739	Anxiety
OMIM:194050	RFC2	5982	HP:0000939	Osteoporosis
OMIM:194050	RFC2	5982	HP:0001337	Tremor
OMIM:194050	RFC2	5982	HP:0002120	Cerebral cortical atrophy
OMIM:194050	RFC2	5982	HP:0007759	Opacification of the corneal stroma
OMIM:194050	RFC2	5982	HP:0000826	Precocious puberty
OMIM:194050	RFC2	5982	HP:0000028	Cryptorchidism
OMIM:194050	RFC2	5982	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:194050	RFC2	5982	HP:0000113	Polycystic kidney dysplasia
OMIM:194050	RFC2	5982	HP:0001631	Atria septal defect
OMIM:194050	RFC2	5982	HP:0000154	Wide mouth
OMIM:194050	RFC2	5982	HP:0000938	Osteopenia
OMIM:194050	RFC2	5982	HP:0003198	Myopathy
OMIM:194050	RFC2	5982	HP:0000670	Carious teeth
OMIM:194050	RFC2	5982	HP:0003196	Short nose
OMIM:194050	RFC2	5982	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:194050	RFC2	5982	HP:0002376	Developmental regression
OMIM:194050	RFC2	5982	HP:0000400	Macrotia
OMIM:194050	RFC2	5982	HP:0000455	Broad nasal tip
OMIM:194050	RFC2	5982	HP:0001513	Obesity
OMIM:194050	RFC2	5982	HP:0002017	Nausea and vomiting
OMIM:194050	RFC2	5982	HP:0001376	Limitation of joint mobility
OMIM:194050	RFC2	5982	HP:0001646	Abnormality of the aortic valve
OMIM:194050	RFC2	5982	HP:0000646	Amblyopia
OMIM:194050	RFC2	5982	HP:0001181	Adducted thumb
OMIM:194050	RFC2	5982	HP:0001636	Tetralogy of Fallot
OMIM:194050	RFC2	5982	HP:0002623	Overriding aorta
OMIM:194050	RFC2	5982	HP:0004305	Involuntary movements
OMIM:194050	RFC2	5982	HP:0000819	Diabetes mellitus
OMIM:194050	RFC2	5982	HP:0002150	Hypercalciuria
OMIM:194050	RFC2	5982	HP:0100785	Insomnia
OMIM:194050	RFC2	5982	HP:0001642	Pulmonic stenosis
OMIM:194050	RFC2	5982	HP:0001511	Intrauterine growth retardation
OMIM:194050	RFC2	5982	HP:0002751	Kyphoscoliosis
OMIM:194050	RFC2	5982	HP:0000722	Obsessive-compulsive behavior
OMIM:194050	RFC2	5982	HP:0000075	Renal duplication
OMIM:194050	RFC2	5982	HP:0002608	Celiac disease
OMIM:194050	RFC2	5982	HP:0002035	Rectal prolapse
OMIM:194050	RFC2	5982	HP:0001609	Hoarse voice
OMIM:194050	RFC2	5982	HP:0002020	Gastroesophageal reflux
OMIM:194050	RFC2	5982	HP:0000787	Nephrolithiasis
OMIM:194050	RFC2	5982	HP:0001252	Muscular hypotonia
OMIM:194050	RFC2	5982	HP:0000337	Broad forehead
OMIM:194050	RFC2	5982	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:194050	RFC2	5982	HP:0001800	Hypoplastic toenails
OMIM:194050	RFC2	5982	HP:0000025	Functional abnormality of male internal genitalia
OMIM:194050	RFC2	5982	HP:0003298	Spina bifida occulta
OMIM:194050	RFC2	5982	HP:0001640	Cardiomegaly
OMIM:194050	RFC2	5982	HP:0002999	Patellar dislocation
OMIM:194050	RFC2	5982	HP:0001629	Ventricular septal defect
OMIM:194050	RFC2	5982	HP:0000629	Periorbital fullness
OMIM:194050	RFC2	5982	HP:0001231	Abnormality of the fingernails
OMIM:194050	RFC2	5982	HP:0001608	Abnormality of the voice
OMIM:194050	RFC2	5982	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:194050	RFC2	5982	HP:0003312	Abnormal form of the vertebral bodies
OMIM:194050	RFC2	5982	HP:0000010	Recurrent urinary tract infections
OMIM:194050	RFC2	5982	HP:0000147	Polycystic ovaries
OMIM:194050	RFC2	5982	HP:0003043	Abnormality of the shoulder
OMIM:194050	RFC2	5982	HP:0000006	Autosomal dominant inheritance
OMIM:194050	RFC2	5982	HP:0001388	Joint laxity
OMIM:194050	RFC2	5982	HP:0000973	Cutis laxa
OMIM:194050	RFC2	5982	HP:0000093	Proteinuria
OMIM:194050	RFC2	5982	HP:0004295	Abnormality of the gastric mucosa
OMIM:194050	RFC2	5982	HP:0002360	Sleep disturbance
OMIM:194050	RFC2	5982	HP:0008661	Urethral stenosis
OMIM:194050	RFC2	5982	HP:0009804	Reduced number of teeth
OMIM:194050	RFC2	5982	HP:0002857	Genu valgum
OMIM:194050	RFC2	5982	HP:0001633	Abnormality of the mitral valve
OMIM:194050	RFC2	5982	HP:0007099	Arnold-Chiari type I malformation
OMIM:194050	RFC2	5982	HP:0000627	Posterior embryotoxon
OMIM:194050	RFC2	5982	HP:0002808	Kyphosis
OMIM:194050	RFC2	5982	HP:0003307	Hyperlordosis
OMIM:194050	RFC2	5982	HP:0001382	Joint hypermobility
OMIM:194050	RFC2	5982	HP:0008872	Feeding difficulties in infancy
OMIM:194050	RFC2	5982	HP:0008046	Abnormality of the retinal vasculature
OMIM:194050	RFC2	5982	HP:0011001	Increased bone mineral density
OMIM:194050	RFC2	5982	HP:0004381	Supravalvular aortic stenosis
OMIM:194050	RFC2	5982	HP:0001297	Stroke
OMIM:194050	RFC2	5982	HP:0002650	Scoliosis
OMIM:194050	RFC2	5982	HP:0100543	Cognitive impairment
OMIM:194050	RFC2	5982	HP:0000275	Narrow face
OMIM:194050	RFC2	5982	HP:0001249	Intellectual disability
OMIM:194050	RFC2	5982	HP:0000539	Abnormality of refraction
OMIM:194050	RFC2	5982	HP:0001409	Portal hypertension
OMIM:194050	RFC2	5982	HP:0000501	Glaucoma
OMIM:194050	RFC2	5982	HP:0002637	Cerebral ischemia
OMIM:194050	RFC2	5982	HP:0001531	Failure to thrive in infancy
OMIM:194050	RFC2	5982	HP:0008736	Hypoplasia of penis
OMIM:194050	RFC2	5982	HP:0002216	Premature graying of hair
OMIM:194050	RFC2	5982	HP:0000054	Micropenis
OMIM:194050	RFC2	5982	HP:0000977	Soft skin
OMIM:194050	RFC2	5982	HP:0001639	Hypertrophic cardiomyopathy
OMIM:194050	RFC2	5982	HP:0002183	Phonophobia
OMIM:194050	RFC2	5982	HP:0001645	Sudden cardiac death
OMIM:194050	RFC2	5982	HP:0000518	Cataract
OMIM:194050	RFC2	5982	HP:0000668	Hypodontia
OMIM:194050	RFC2	5982	HP:0000833	Glucose intolerance
OMIM:194050	RFC2	5982	HP:0001635	Congestive heart failure
OMIM:194050	RFC2	5982	HP:0001647	Bicuspid aortic valve
OMIM:194050	RFC2	5982	HP:0000960	Sacral dimple
OMIM:194050	RFC2	5982	HP:0007477	Abnormal dermatoglyphics
OMIM:194050	RFC2	5982	HP:0100542	Abnormal localization of kidney
OMIM:216360	CC2D2A	57545	HP:0000567	Chorioretinal coloboma
OMIM:216360	CC2D2A	57545	HP:0001288	Gait disturbance
OMIM:216360	CC2D2A	57545	HP:0001394	Cirrhosis
OMIM:216360	CC2D2A	57545	HP:0001080	Biliary tract abnormality
OMIM:216360	CC2D2A	57545	HP:0000276	Long face
OMIM:216360	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:216360	CC2D2A	57545	HP:0000639	Nystagmus
OMIM:216360	CC2D2A	57545	HP:0001337	Tremor
OMIM:216360	CC2D2A	57545	HP:0001320	Cerebellar vermis hypoplasia
OMIM:216360	CC2D2A	57545	HP:0000505	Visual impairment
OMIM:216360	CC2D2A	57545	HP:0000657	Oculomotor apraxia
OMIM:216360	CC2D2A	57545	HP:0000154	Wide mouth
OMIM:216360	CC2D2A	57545	HP:0000508	Ptosis
OMIM:216360	CC2D2A	57545	HP:0000003	Multicystic kidney dysplasia
OMIM:216360	CC2D2A	57545	HP:0000238	Hydrocephalus
OMIM:216360	CC2D2A	57545	HP:0000341	Narrow forehead
OMIM:216360	CC2D2A	57545	HP:0001252	Muscular hypotonia
OMIM:216360	CC2D2A	57545	HP:0004299	Hernia of the abdominal wall
OMIM:216360	CC2D2A	57545	HP:0002553	Highly arched eyebrow
OMIM:216360	CC2D2A	57545	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:216360	CC2D2A	57545	HP:0100543	Cognitive impairment
OMIM:216360	CC2D2A	57545	HP:0001395	Hepatic fibrosis
OMIM:216360	CC2D2A	57545	HP:0000864	Abnormality of the hypothalamus-pituitary axis
OMIM:216360	CC2D2A	57545	HP:0000090	Nephronophthisis
OMIM:216360	CC2D2A	57545	HP:0000316	Hypertelorism
OMIM:216360	CC2D2A	57545	HP:0000612	Iris coloboma
OMIM:216360	CC2D2A	57545	HP:0001251	Ataxia
OMIM:216360	CC2D2A	57545	HP:0000588	Optic nerve coloboma
OMIM:216360	CC2D2A	57545	HP:0001347	Hyperreflexia
OMIM:216360	CC2D2A	57545	HP:0000256	Macrocephaly
OMIM:216360	CC2D2A	57545	HP:0000311	Round face
OMIM:216360	CC2D2A	57545	HP:0000163	Abnormality of the oral cavity
OMIM:216360	CC2D2A	57545	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:216360	CC2D2A	57545	HP:0001425	Heterogeneous
OMIM:216360	CC2D2A	57545	HP:0000463	Anteverted nares
OMIM:216360	CC2D2A	57545	HP:0001250	Seizures
OMIM:216360	CC2D2A	57545	HP:0000486	Strabismus
OMIM:216360	CC2D2A	57545	HP:0002419	Molar tooth sign on MRI
OMIM:216360	CC2D2A	57545	HP:0001744	Splenomegaly
OMIM:216360	CC2D2A	57545	HP:0008872	Feeding difficulties in infancy
OMIM:216360	CC2D2A	57545	HP:0002311	Incoordination
OMIM:216360	CC2D2A	57545	HP:0000112	Nephropathy
OMIM:216360	CC2D2A	57545	HP:0002910	Elevated hepatic transaminases
OMIM:216360	CC2D2A	57545	HP:0000426	Prominent nasal bridge
OMIM:216360	CC2D2A	57545	HP:0002104	Apnea
OMIM:216360	CC2D2A	57545	HP:0001263	Global developmental delay
OMIM:216360	CC2D2A	57545	HP:0000083	Renal insufficiency
OMIM:216360	CC2D2A	57545	HP:0001409	Portal hypertension
OMIM:216360	CC2D2A	57545	HP:0002650	Scoliosis
OMIM:216360	CC2D2A	57545	HP:0001257	Spasticity
OMIM:216360	CC2D2A	57545	HP:0001510	Growth delay
OMIM:216360	CC2D2A	57545	HP:0000202	Oral cleft
OMIM:216360	CC2D2A	57545	HP:0002240	Hepatomegaly
OMIM:216360	CC2D2A	57545	HP:0000589	Coloboma
OMIM:216360	CC2D2A	57545	HP:0002342	Intellectual disability, moderate
OMIM:216360	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:216360	CC2D2A	57545	HP:0000368	Low-set, posteriorly rotated ears
OMIM:216360	CC2D2A	57545	HP:0002085	Occipital encephalocele
OMIM:216360	CC2D2A	57545	HP:0002269	Abnormality of neuronal migration
OMIM:216360	CC2D2A	57545	HP:0002084	Encephalocele
OMIM:216360	CC2D2A	57545	HP:0003593	Infantile onset
OMIM:216360	TMEM67	91147	HP:0000567	Chorioretinal coloboma
OMIM:216360	TMEM67	91147	HP:0001288	Gait disturbance
OMIM:216360	TMEM67	91147	HP:0001394	Cirrhosis
OMIM:216360	TMEM67	91147	HP:0001080	Biliary tract abnormality
OMIM:216360	TMEM67	91147	HP:0000276	Long face
OMIM:216360	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
OMIM:216360	TMEM67	91147	HP:0000639	Nystagmus
OMIM:216360	TMEM67	91147	HP:0001337	Tremor
OMIM:216360	TMEM67	91147	HP:0001320	Cerebellar vermis hypoplasia
OMIM:216360	TMEM67	91147	HP:0000505	Visual impairment
OMIM:216360	TMEM67	91147	HP:0000657	Oculomotor apraxia
OMIM:216360	TMEM67	91147	HP:0000154	Wide mouth
OMIM:216360	TMEM67	91147	HP:0000508	Ptosis
OMIM:216360	TMEM67	91147	HP:0000003	Multicystic kidney dysplasia
OMIM:216360	TMEM67	91147	HP:0000238	Hydrocephalus
OMIM:216360	TMEM67	91147	HP:0000341	Narrow forehead
OMIM:216360	TMEM67	91147	HP:0001252	Muscular hypotonia
OMIM:216360	TMEM67	91147	HP:0004299	Hernia of the abdominal wall
OMIM:216360	TMEM67	91147	HP:0002553	Highly arched eyebrow
OMIM:216360	TMEM67	91147	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:216360	TMEM67	91147	HP:0100543	Cognitive impairment
OMIM:216360	TMEM67	91147	HP:0001395	Hepatic fibrosis
OMIM:216360	TMEM67	91147	HP:0000864	Abnormality of the hypothalamus-pituitary axis
OMIM:216360	TMEM67	91147	HP:0000090	Nephronophthisis
OMIM:216360	TMEM67	91147	HP:0000316	Hypertelorism
OMIM:216360	TMEM67	91147	HP:0000612	Iris coloboma
OMIM:216360	TMEM67	91147	HP:0001251	Ataxia
OMIM:216360	TMEM67	91147	HP:0000588	Optic nerve coloboma
OMIM:216360	TMEM67	91147	HP:0001347	Hyperreflexia
OMIM:216360	TMEM67	91147	HP:0000256	Macrocephaly
OMIM:216360	TMEM67	91147	HP:0000311	Round face
OMIM:216360	TMEM67	91147	HP:0000163	Abnormality of the oral cavity
OMIM:216360	TMEM67	91147	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:216360	TMEM67	91147	HP:0001425	Heterogeneous
OMIM:216360	TMEM67	91147	HP:0000463	Anteverted nares
OMIM:216360	TMEM67	91147	HP:0001250	Seizures
OMIM:216360	TMEM67	91147	HP:0000486	Strabismus
OMIM:216360	TMEM67	91147	HP:0002419	Molar tooth sign on MRI
OMIM:216360	TMEM67	91147	HP:0001744	Splenomegaly
OMIM:216360	TMEM67	91147	HP:0008872	Feeding difficulties in infancy
OMIM:216360	TMEM67	91147	HP:0002311	Incoordination
OMIM:216360	TMEM67	91147	HP:0000112	Nephropathy
OMIM:216360	TMEM67	91147	HP:0002910	Elevated hepatic transaminases
OMIM:216360	TMEM67	91147	HP:0000426	Prominent nasal bridge
OMIM:216360	TMEM67	91147	HP:0002104	Apnea
OMIM:216360	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:216360	TMEM67	91147	HP:0000083	Renal insufficiency
OMIM:216360	TMEM67	91147	HP:0001409	Portal hypertension
OMIM:216360	TMEM67	91147	HP:0002650	Scoliosis
OMIM:216360	TMEM67	91147	HP:0001257	Spasticity
OMIM:216360	TMEM67	91147	HP:0001510	Growth delay
OMIM:216360	TMEM67	91147	HP:0000202	Oral cleft
OMIM:216360	TMEM67	91147	HP:0002240	Hepatomegaly
OMIM:216360	TMEM67	91147	HP:0000589	Coloboma
OMIM:216360	TMEM67	91147	HP:0002342	Intellectual disability, moderate
OMIM:216360	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:216360	TMEM67	91147	HP:0000368	Low-set, posteriorly rotated ears
OMIM:216360	TMEM67	91147	HP:0002085	Occipital encephalocele
OMIM:216360	TMEM67	91147	HP:0002269	Abnormality of neuronal migration
OMIM:216360	TMEM67	91147	HP:0002084	Encephalocele
OMIM:216360	TMEM67	91147	HP:0003593	Infantile onset
OMIM:216360	RPGRIP1L	23322	HP:0000567	Chorioretinal coloboma
OMIM:216360	RPGRIP1L	23322	HP:0001288	Gait disturbance
OMIM:216360	RPGRIP1L	23322	HP:0001394	Cirrhosis
OMIM:216360	RPGRIP1L	23322	HP:0001080	Biliary tract abnormality
OMIM:216360	RPGRIP1L	23322	HP:0000276	Long face
OMIM:216360	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
OMIM:216360	RPGRIP1L	23322	HP:0000639	Nystagmus
OMIM:216360	RPGRIP1L	23322	HP:0001337	Tremor
OMIM:216360	RPGRIP1L	23322	HP:0001320	Cerebellar vermis hypoplasia
OMIM:216360	RPGRIP1L	23322	HP:0000505	Visual impairment
OMIM:216360	RPGRIP1L	23322	HP:0000657	Oculomotor apraxia
OMIM:216360	RPGRIP1L	23322	HP:0000154	Wide mouth
OMIM:216360	RPGRIP1L	23322	HP:0000508	Ptosis
OMIM:216360	RPGRIP1L	23322	HP:0000003	Multicystic kidney dysplasia
OMIM:216360	RPGRIP1L	23322	HP:0000238	Hydrocephalus
OMIM:216360	RPGRIP1L	23322	HP:0000341	Narrow forehead
OMIM:216360	RPGRIP1L	23322	HP:0001252	Muscular hypotonia
OMIM:216360	RPGRIP1L	23322	HP:0004299	Hernia of the abdominal wall
OMIM:216360	RPGRIP1L	23322	HP:0002553	Highly arched eyebrow
OMIM:216360	RPGRIP1L	23322	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:216360	RPGRIP1L	23322	HP:0100543	Cognitive impairment
OMIM:216360	RPGRIP1L	23322	HP:0001395	Hepatic fibrosis
OMIM:216360	RPGRIP1L	23322	HP:0000864	Abnormality of the hypothalamus-pituitary axis
OMIM:216360	RPGRIP1L	23322	HP:0000090	Nephronophthisis
OMIM:216360	RPGRIP1L	23322	HP:0000316	Hypertelorism
OMIM:216360	RPGRIP1L	23322	HP:0000612	Iris coloboma
OMIM:216360	RPGRIP1L	23322	HP:0001251	Ataxia
OMIM:216360	RPGRIP1L	23322	HP:0000588	Optic nerve coloboma
OMIM:216360	RPGRIP1L	23322	HP:0001347	Hyperreflexia
OMIM:216360	RPGRIP1L	23322	HP:0000256	Macrocephaly
OMIM:216360	RPGRIP1L	23322	HP:0000311	Round face
OMIM:216360	RPGRIP1L	23322	HP:0000163	Abnormality of the oral cavity
OMIM:216360	RPGRIP1L	23322	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:216360	RPGRIP1L	23322	HP:0001425	Heterogeneous
OMIM:216360	RPGRIP1L	23322	HP:0000463	Anteverted nares
OMIM:216360	RPGRIP1L	23322	HP:0001250	Seizures
OMIM:216360	RPGRIP1L	23322	HP:0000486	Strabismus
OMIM:216360	RPGRIP1L	23322	HP:0002419	Molar tooth sign on MRI
OMIM:216360	RPGRIP1L	23322	HP:0001744	Splenomegaly
OMIM:216360	RPGRIP1L	23322	HP:0008872	Feeding difficulties in infancy
OMIM:216360	RPGRIP1L	23322	HP:0002311	Incoordination
OMIM:216360	RPGRIP1L	23322	HP:0000112	Nephropathy
OMIM:216360	RPGRIP1L	23322	HP:0002910	Elevated hepatic transaminases
OMIM:216360	RPGRIP1L	23322	HP:0000426	Prominent nasal bridge
OMIM:216360	RPGRIP1L	23322	HP:0002104	Apnea
OMIM:216360	RPGRIP1L	23322	HP:0001263	Global developmental delay
OMIM:216360	RPGRIP1L	23322	HP:0000083	Renal insufficiency
OMIM:216360	RPGRIP1L	23322	HP:0001409	Portal hypertension
OMIM:216360	RPGRIP1L	23322	HP:0002650	Scoliosis
OMIM:216360	RPGRIP1L	23322	HP:0001257	Spasticity
OMIM:216360	RPGRIP1L	23322	HP:0001510	Growth delay
OMIM:216360	RPGRIP1L	23322	HP:0000202	Oral cleft
OMIM:216360	RPGRIP1L	23322	HP:0002240	Hepatomegaly
OMIM:216360	RPGRIP1L	23322	HP:0000589	Coloboma
OMIM:216360	RPGRIP1L	23322	HP:0002342	Intellectual disability, moderate
OMIM:216360	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:216360	RPGRIP1L	23322	HP:0000368	Low-set, posteriorly rotated ears
OMIM:216360	RPGRIP1L	23322	HP:0002085	Occipital encephalocele
OMIM:216360	RPGRIP1L	23322	HP:0002269	Abnormality of neuronal migration
OMIM:216360	RPGRIP1L	23322	HP:0002084	Encephalocele
OMIM:216360	RPGRIP1L	23322	HP:0003593	Infantile onset
OMIM:216360	INPP5E	56623	HP:0000567	Chorioretinal coloboma
OMIM:216360	INPP5E	56623	HP:0001288	Gait disturbance
OMIM:216360	INPP5E	56623	HP:0001394	Cirrhosis
OMIM:216360	INPP5E	56623	HP:0001080	Biliary tract abnormality
OMIM:216360	INPP5E	56623	HP:0000276	Long face
OMIM:216360	INPP5E	56623	HP:0001162	Postaxial hand polydactyly
OMIM:216360	INPP5E	56623	HP:0000639	Nystagmus
OMIM:216360	INPP5E	56623	HP:0001337	Tremor
OMIM:216360	INPP5E	56623	HP:0001320	Cerebellar vermis hypoplasia
OMIM:216360	INPP5E	56623	HP:0000505	Visual impairment
OMIM:216360	INPP5E	56623	HP:0000657	Oculomotor apraxia
OMIM:216360	INPP5E	56623	HP:0000154	Wide mouth
OMIM:216360	INPP5E	56623	HP:0000508	Ptosis
OMIM:216360	INPP5E	56623	HP:0000003	Multicystic kidney dysplasia
OMIM:216360	INPP5E	56623	HP:0000238	Hydrocephalus
OMIM:216360	INPP5E	56623	HP:0000341	Narrow forehead
OMIM:216360	INPP5E	56623	HP:0001252	Muscular hypotonia
OMIM:216360	INPP5E	56623	HP:0004299	Hernia of the abdominal wall
OMIM:216360	INPP5E	56623	HP:0002553	Highly arched eyebrow
OMIM:216360	INPP5E	56623	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:216360	INPP5E	56623	HP:0100543	Cognitive impairment
OMIM:216360	INPP5E	56623	HP:0001395	Hepatic fibrosis
OMIM:216360	INPP5E	56623	HP:0000864	Abnormality of the hypothalamus-pituitary axis
OMIM:216360	INPP5E	56623	HP:0000090	Nephronophthisis
OMIM:216360	INPP5E	56623	HP:0000316	Hypertelorism
OMIM:216360	INPP5E	56623	HP:0000612	Iris coloboma
OMIM:216360	INPP5E	56623	HP:0001251	Ataxia
OMIM:216360	INPP5E	56623	HP:0000588	Optic nerve coloboma
OMIM:216360	INPP5E	56623	HP:0001347	Hyperreflexia
OMIM:216360	INPP5E	56623	HP:0000256	Macrocephaly
OMIM:216360	INPP5E	56623	HP:0000311	Round face
OMIM:216360	INPP5E	56623	HP:0000163	Abnormality of the oral cavity
OMIM:216360	INPP5E	56623	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:216360	INPP5E	56623	HP:0001425	Heterogeneous
OMIM:216360	INPP5E	56623	HP:0000463	Anteverted nares
OMIM:216360	INPP5E	56623	HP:0001250	Seizures
OMIM:216360	INPP5E	56623	HP:0000486	Strabismus
OMIM:216360	INPP5E	56623	HP:0002419	Molar tooth sign on MRI
OMIM:216360	INPP5E	56623	HP:0001744	Splenomegaly
OMIM:216360	INPP5E	56623	HP:0008872	Feeding difficulties in infancy
OMIM:216360	INPP5E	56623	HP:0002311	Incoordination
OMIM:216360	INPP5E	56623	HP:0000112	Nephropathy
OMIM:216360	INPP5E	56623	HP:0002910	Elevated hepatic transaminases
OMIM:216360	INPP5E	56623	HP:0000426	Prominent nasal bridge
OMIM:216360	INPP5E	56623	HP:0002104	Apnea
OMIM:216360	INPP5E	56623	HP:0001263	Global developmental delay
OMIM:216360	INPP5E	56623	HP:0000083	Renal insufficiency
OMIM:216360	INPP5E	56623	HP:0001409	Portal hypertension
OMIM:216360	INPP5E	56623	HP:0002650	Scoliosis
OMIM:216360	INPP5E	56623	HP:0001257	Spasticity
OMIM:216360	INPP5E	56623	HP:0001510	Growth delay
OMIM:216360	INPP5E	56623	HP:0000202	Oral cleft
OMIM:216360	INPP5E	56623	HP:0002240	Hepatomegaly
OMIM:216360	INPP5E	56623	HP:0000589	Coloboma
OMIM:216360	INPP5E	56623	HP:0002342	Intellectual disability, moderate
OMIM:216360	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:216360	INPP5E	56623	HP:0000368	Low-set, posteriorly rotated ears
OMIM:216360	INPP5E	56623	HP:0002085	Occipital encephalocele
OMIM:216360	INPP5E	56623	HP:0002269	Abnormality of neuronal migration
OMIM:216360	INPP5E	56623	HP:0002084	Encephalocele
OMIM:216360	INPP5E	56623	HP:0003593	Infantile onset
ORPHANET:95496	HESX1	8820	HP:0001250	Seizures
ORPHANET:95496	HESX1	8820	HP:0000821	Hypothyroidism
ORPHANET:95496	HESX1	8820	HP:0008736	Hypoplasia of penis
ORPHANET:95496	HESX1	8820	HP:0001943	Hypoglycemia
ORPHANET:95496	HESX1	8820	HP:0100543	Cognitive impairment
ORPHANET:95496	HESX1	8820	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:95496	HESX1	8820	HP:0004322	Short stature
ORPHANET:95496	HESX1	8820	HP:0000873	Diabetes insipidus
ORPHANET:95496	HESX1	8820	HP:0008207	Primary adrenal insufficiency
ORPHANET:95496	HESX1	8820	HP:0000028	Cryptorchidism
ORPHANET:95496	HESX1	8820	HP:0000786	Primary amenorrhea
ORPHANET:95496	GPR161	23432	HP:0001250	Seizures
ORPHANET:95496	GPR161	23432	HP:0000821	Hypothyroidism
ORPHANET:95496	GPR161	23432	HP:0008736	Hypoplasia of penis
ORPHANET:95496	GPR161	23432	HP:0001943	Hypoglycemia
ORPHANET:95496	GPR161	23432	HP:0100543	Cognitive impairment
ORPHANET:95496	GPR161	23432	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:95496	GPR161	23432	HP:0004322	Short stature
ORPHANET:95496	GPR161	23432	HP:0000873	Diabetes insipidus
ORPHANET:95496	GPR161	23432	HP:0008207	Primary adrenal insufficiency
ORPHANET:95496	GPR161	23432	HP:0000028	Cryptorchidism
ORPHANET:95496	GPR161	23432	HP:0000786	Primary amenorrhea
ORPHANET:95496	LHX4	89884	HP:0001250	Seizures
ORPHANET:95496	LHX4	89884	HP:0000821	Hypothyroidism
ORPHANET:95496	LHX4	89884	HP:0008736	Hypoplasia of penis
ORPHANET:95496	LHX4	89884	HP:0001943	Hypoglycemia
ORPHANET:95496	LHX4	89884	HP:0100543	Cognitive impairment
ORPHANET:95496	LHX4	89884	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:95496	LHX4	89884	HP:0004322	Short stature
ORPHANET:95496	LHX4	89884	HP:0000873	Diabetes insipidus
ORPHANET:95496	LHX4	89884	HP:0008207	Primary adrenal insufficiency
ORPHANET:95496	LHX4	89884	HP:0000028	Cryptorchidism
ORPHANET:95496	LHX4	89884	HP:0000786	Primary amenorrhea
OMIM:261640	PTS	5805	HP:0001263	Global developmental delay
OMIM:261640	PTS	5805	HP:0001266	Choreoathetosis
OMIM:261640	PTS	5805	HP:0001332	Dystonia
OMIM:261640	PTS	5805	HP:0001250	Seizures
OMIM:261640	PTS	5805	HP:0000737	Irritability
OMIM:261640	PTS	5805	HP:0001337	Tremor
OMIM:261640	PTS	5805	HP:0001347	Hyperreflexia
OMIM:261640	PTS	5805	HP:0001251	Ataxia
OMIM:261640	PTS	5805	HP:0001300	Parkinsonism
OMIM:261640	PTS	5805	HP:0006887	Intellectual disability, progressive
OMIM:261640	PTS	5805	HP:0002067	Bradykinesia
OMIM:261640	PTS	5805	HP:0002344	Progressive neurologic deterioration
OMIM:261640	PTS	5805	HP:0008936	Muscular hypotonia of the trunk
OMIM:261640	PTS	5805	HP:0000252	Microcephaly
OMIM:261640	PTS	5805	HP:0002015	Dysphagia
OMIM:261640	PTS	5805	HP:0000007	Autosomal recessive inheritance
OMIM:261640	PTS	5805	HP:0002033	Poor suck
OMIM:261640	PTS	5805	HP:0002063	Rigidity
OMIM:261640	PTS	5805	HP:0001518	Small for gestational age
OMIM:261640	PTS	5805	HP:0003781	Excessive salivation
OMIM:610913	SFTPC	6440	HP:0002205	Recurrent respiratory infections
OMIM:610913	SFTPC	6440	HP:0000961	Cyanosis
OMIM:610913	SFTPC	6440	HP:0001217	Clubbing
OMIM:610913	SFTPC	6440	HP:0000006	Autosomal dominant inheritance
OMIM:610913	SFTPC	6440	HP:0001508	Failure to thrive
OMIM:610913	SFTPC	6440	HP:0001425	Heterogeneous
OMIM:610913	SFTPC	6440	HP:0002098	Respiratory distress
OMIM:610913	SFTPC	6440	HP:0002789	Tachypnea
OMIM:610913	SFTPC	6440	HP:0003829	Incomplete penetrance
OMIM:615834	AUTS2	26053	HP:0000316	Hypertelorism
OMIM:615834	AUTS2	26053	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615834	AUTS2	26053	HP:0004322	Short stature
OMIM:615834	AUTS2	26053	HP:0011968	Feeding difficulties
OMIM:615834	AUTS2	26053	HP:0000322	Short philtrum
OMIM:615834	AUTS2	26053	HP:0001249	Intellectual disability
OMIM:615834	AUTS2	26053	HP:0002650	Scoliosis
OMIM:615834	AUTS2	26053	HP:0000006	Autosomal dominant inheritance
OMIM:615834	AUTS2	26053	HP:0001999	Abnormal facial shape
OMIM:615834	AUTS2	26053	HP:0000508	Ptosis
OMIM:615834	AUTS2	26053	HP:0002808	Kyphosis
OMIM:615834	AUTS2	26053	HP:0000717	Autism
OMIM:615834	AUTS2	26053	HP:0000160	Narrow mouth
OMIM:615834	AUTS2	26053	HP:0000252	Microcephaly
OMIM:615834	AUTS2	26053	HP:0012745	Short palpebral fissure
ORPHANET:93258	FGFR1	2260	HP:0000316	Hypertelorism
ORPHANET:93258	FGFR1	2260	HP:0006101	Finger syndactyly
ORPHANET:93258	FGFR1	2260	HP:0000174	Abnormality of the palate
ORPHANET:93258	FGFR1	2260	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:93258	FGFR1	2260	HP:0009602	Abnormality of thumb phalanx
ORPHANET:93258	FGFR1	2260	HP:0000272	Malar flattening
ORPHANET:93258	FGFR1	2260	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHANET:93258	FGFR1	2260	HP:0000348	High forehead
ORPHANET:93258	FGFR1	2260	HP:0000365	Hearing impairment
ORPHANET:93258	FGFR1	2260	HP:0000520	Proptosis
ORPHANET:93258	FGFR1	2260	HP:0001770	Toe syndactyly
ORPHANET:93258	FGFR1	2260	HP:0001841	Preaxial foot polydactyly
ORPHANET:93258	FGFR1	2260	HP:0010109	Short hallux
ORPHANET:93258	FGFR1	2260	HP:0005280	Depressed nasal bridge
ORPHANET:93258	FGFR1	2260	HP:0002648	Abnormality of calvarial morphology
ORPHANET:93258	FGFR1	2260	HP:0001156	Brachydactyly syndrome
ORPHANET:93258	FGFR1	2260	HP:0003196	Short nose
ORPHANET:93258	FGFR2	2263	HP:0000316	Hypertelorism
ORPHANET:93258	FGFR2	2263	HP:0006101	Finger syndactyly
ORPHANET:93258	FGFR2	2263	HP:0000174	Abnormality of the palate
ORPHANET:93258	FGFR2	2263	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:93258	FGFR2	2263	HP:0009602	Abnormality of thumb phalanx
ORPHANET:93258	FGFR2	2263	HP:0000272	Malar flattening
ORPHANET:93258	FGFR2	2263	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHANET:93258	FGFR2	2263	HP:0000348	High forehead
ORPHANET:93258	FGFR2	2263	HP:0000365	Hearing impairment
ORPHANET:93258	FGFR2	2263	HP:0000520	Proptosis
ORPHANET:93258	FGFR2	2263	HP:0001770	Toe syndactyly
ORPHANET:93258	FGFR2	2263	HP:0001841	Preaxial foot polydactyly
ORPHANET:93258	FGFR2	2263	HP:0010109	Short hallux
ORPHANET:93258	FGFR2	2263	HP:0005280	Depressed nasal bridge
ORPHANET:93258	FGFR2	2263	HP:0002648	Abnormality of calvarial morphology
ORPHANET:93258	FGFR2	2263	HP:0001156	Brachydactyly syndrome
ORPHANET:93258	FGFR2	2263	HP:0003196	Short nose
OMIM:609941	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:609941	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:609941	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:609941	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:609941	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:609941	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:609941	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:609941	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:609941	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:609941	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:609941	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:609941	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:609941	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:609941	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:609941	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:609941	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:609941	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:609941	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:609941	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:609941	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:609941	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:609941	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:609941	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:609941	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:609941	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:609941	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:609941	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:609941	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:609941	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:609941	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:609941	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:609941	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:609941	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:609941	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:609941	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:609941	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:609941	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:609941	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:609941	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:609941	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:609941	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:609941	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:609941	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:609941	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:609941	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:609941	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:609941	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:609941	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:609941	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:609941	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:609941	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:609941	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:609941	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:609941	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:609941	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:609941	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:609941	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:609941	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:609941	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:609941	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:609941	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:609941	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:609941	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:609941	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:609941	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:609941	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:609941	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:609941	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:609941	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:609941	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:609941	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:609941	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:609941	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:609941	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:609941	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:609941	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:609941	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:609941	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:609941	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:609941	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:609941	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:609941	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:609941	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:609941	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:609941	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:609941	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:609941	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:609941	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:609941	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:609941	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:609941	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:609941	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:609941	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:609941	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:609941	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:609941	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:609941	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:609941	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:609941	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:609941	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:609941	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:609941	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:609941	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:609941	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:609941	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:609941	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:609941	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:609941	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:609941	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:609941	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:609941	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:609941	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:609941	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:609941	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:609941	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:609941	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:609941	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:609941	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:609941	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:609941	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:164745	FZD2	2535	HP:0000028	Cryptorchidism
OMIM:164745	FZD2	2535	HP:0001156	Brachydactyly syndrome
OMIM:164745	FZD2	2535	HP:0002999	Patellar dislocation
OMIM:164745	FZD2	2535	HP:0000343	Long philtrum
OMIM:164745	FZD2	2535	HP:0010034	Short 1st metacarpal
OMIM:164745	FZD2	2535	HP:0008736	Hypoplasia of penis
OMIM:164745	FZD2	2535	HP:0000008	Abnormality of female internal genitalia
OMIM:164745	FZD2	2535	HP:0000347	Micrognathia
OMIM:164745	FZD2	2535	HP:0000272	Malar flattening
OMIM:164745	FZD2	2535	HP:0005280	Depressed nasal bridge
OMIM:164745	FZD2	2535	HP:0002007	Frontal bossing
OMIM:164745	FZD2	2535	HP:0000046	Scrotal hypoplasia
OMIM:164745	FZD2	2535	HP:0003083	Dislocated radial head
OMIM:164745	FZD2	2535	HP:0009826	Limb undergrowth
OMIM:164745	FZD2	2535	HP:0000006	Autosomal dominant inheritance
OMIM:164745	FZD2	2535	HP:0000047	Hypospadias
OMIM:164745	FZD2	2535	HP:0000054	Micropenis
OMIM:164745	FZD2	2535	HP:0003042	Elbow dislocation
OMIM:164745	FZD2	2535	HP:0001163	Abnormality of the metacarpal bones
OMIM:164745	FZD2	2535	HP:0003196	Short nose
OMIM:164745	FZD2	2535	HP:0000316	Hypertelorism
OMIM:164745	FZD2	2535	HP:0005792	Short humerus
OMIM:616459	DCPS	28960	HP:0001263	Global developmental delay
OMIM:616459	DCPS	28960	HP:0001252	Muscular hypotonia
OMIM:616459	DCPS	28960	HP:0000252	Microcephaly
OMIM:616459	DCPS	28960	HP:0002317	Unsteady gait
OMIM:187040	TAL1	6886	HP:0000006	Autosomal dominant inheritance
OMIM:187040	TAL1	6886	HP:0001909	Leukemia
OMIM:613740	TPM1	7168	HP:0006673	Reduced systolic function
OMIM:613740	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:613740	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:613740	CRYAB	1410	HP:0006673	Reduced systolic function
OMIM:613740	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:613740	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:613740	ACTC1	70	HP:0006673	Reduced systolic function
OMIM:613740	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:613740	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613740	RAF1	5894	HP:0006673	Reduced systolic function
OMIM:613740	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:613740	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:613740	GATAD1	57798	HP:0006673	Reduced systolic function
OMIM:613740	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:613740	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613740	LAMA4	3910	HP:0006673	Reduced systolic function
OMIM:613740	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:613740	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:613740	TMPO	7112	HP:0006673	Reduced systolic function
OMIM:613740	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:613740	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613740	DES	1674	HP:0006673	Reduced systolic function
OMIM:613740	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:613740	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:613740	ABCC9	10060	HP:0006673	Reduced systolic function
OMIM:613740	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:613740	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:613740	MYH6	4624	HP:0006673	Reduced systolic function
OMIM:613740	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:613740	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:613740	MYH7	4625	HP:0006673	Reduced systolic function
OMIM:613740	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:613740	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613740	LDB3	11155	HP:0006673	Reduced systolic function
OMIM:613740	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:613740	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:613740	ACTN2	88	HP:0006673	Reduced systolic function
OMIM:613740	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:613740	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:613740	TXNRD2	10587	HP:0006673	Reduced systolic function
OMIM:613740	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:613740	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:613740	DMD	1756	HP:0006673	Reduced systolic function
OMIM:613740	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:613740	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:613740	TNNC1	7134	HP:0006673	Reduced systolic function
OMIM:613740	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:613740	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:613740	PSEN1	5663	HP:0006673	Reduced systolic function
OMIM:613740	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:613740	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613740	PSEN2	5664	HP:0006673	Reduced systolic function
OMIM:613740	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:613740	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:613740	TNNI3	7137	HP:0006673	Reduced systolic function
OMIM:613740	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:613740	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:613740	FHL2	2274	HP:0006673	Reduced systolic function
OMIM:613740	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:613740	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:613740	TNNT2	7139	HP:0006673	Reduced systolic function
OMIM:613740	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:613740	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:613740	DSG2	1829	HP:0006673	Reduced systolic function
OMIM:613740	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:613740	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:613740	PLN	5350	HP:0006673	Reduced systolic function
OMIM:613740	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:613740	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:613740	PRDM16	63976	HP:0006673	Reduced systolic function
OMIM:613740	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:613740	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:613740	TTN	7273	HP:0006673	Reduced systolic function
OMIM:613740	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:613740	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613740	NEXN	91624	HP:0006673	Reduced systolic function
OMIM:613740	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:613740	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:613740	FKTN	2218	HP:0006673	Reduced systolic function
OMIM:613740	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:613740	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:613740	SGCD	6444	HP:0006673	Reduced systolic function
OMIM:613740	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:613740	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:613740	TCAP	8557	HP:0006673	Reduced systolic function
OMIM:613740	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:613740	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:613740	CSRP3	8048	HP:0006673	Reduced systolic function
OMIM:613740	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:613740	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:613740	RBM20	282996	HP:0006673	Reduced systolic function
OMIM:613740	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:613740	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:613740	SDHA	6389	HP:0006673	Reduced systolic function
OMIM:613740	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:613740	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:613740	TAZ	6901	HP:0006673	Reduced systolic function
OMIM:613740	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:613740	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:613740	VCL	7414	HP:0006673	Reduced systolic function
OMIM:613740	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:613740	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:613740	MYPN	84665	HP:0006673	Reduced systolic function
OMIM:613740	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:613740	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:613740	SCN5A	6331	HP:0006673	Reduced systolic function
OMIM:613740	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613740	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:613740	BAG3	9531	HP:0006673	Reduced systolic function
OMIM:613740	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:613740	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:613740	DOLK	22845	HP:0006673	Reduced systolic function
OMIM:613740	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:613740	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:613740	MYBPC3	4607	HP:0006673	Reduced systolic function
OMIM:613740	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:613740	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:269160	SIX3	6496	HP:0002353	EEG abnormality
OMIM:269160	SIX3	6496	HP:0001276	Hypertonia
OMIM:269160	SIX3	6496	HP:0010636	Schizencephaly
OMIM:269160	SIX3	6496	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:269160	SIX3	6496	HP:0004374	Hemiplegia/hemiparesis
OMIM:269160	SIX3	6496	HP:0000486	Strabismus
OMIM:269160	SIX3	6496	HP:0001250	Seizures
OMIM:269160	SIX3	6496	HP:0002132	Porencephaly
OMIM:269160	SIX3	6496	HP:0100543	Cognitive impairment
OMIM:269160	EMX2	2018	HP:0002353	EEG abnormality
OMIM:269160	EMX2	2018	HP:0001276	Hypertonia
OMIM:269160	EMX2	2018	HP:0010636	Schizencephaly
OMIM:269160	EMX2	2018	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:269160	EMX2	2018	HP:0004374	Hemiplegia/hemiparesis
OMIM:269160	EMX2	2018	HP:0000486	Strabismus
OMIM:269160	EMX2	2018	HP:0001250	Seizures
OMIM:269160	EMX2	2018	HP:0002132	Porencephaly
OMIM:269160	EMX2	2018	HP:0100543	Cognitive impairment
OMIM:269160	COL4A1	1282	HP:0002353	EEG abnormality
OMIM:269160	COL4A1	1282	HP:0001276	Hypertonia
OMIM:269160	COL4A1	1282	HP:0010636	Schizencephaly
OMIM:269160	COL4A1	1282	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:269160	COL4A1	1282	HP:0004374	Hemiplegia/hemiparesis
OMIM:269160	COL4A1	1282	HP:0000486	Strabismus
OMIM:269160	COL4A1	1282	HP:0001250	Seizures
OMIM:269160	COL4A1	1282	HP:0002132	Porencephaly
OMIM:269160	COL4A1	1282	HP:0100543	Cognitive impairment
OMIM:269160	SHH	6469	HP:0002353	EEG abnormality
OMIM:269160	SHH	6469	HP:0001276	Hypertonia
OMIM:269160	SHH	6469	HP:0010636	Schizencephaly
OMIM:269160	SHH	6469	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:269160	SHH	6469	HP:0004374	Hemiplegia/hemiparesis
OMIM:269160	SHH	6469	HP:0000486	Strabismus
OMIM:269160	SHH	6469	HP:0001250	Seizures
OMIM:269160	SHH	6469	HP:0002132	Porencephaly
OMIM:269160	SHH	6469	HP:0100543	Cognitive impairment
OMIM:611291	NHEJ1	79840	HP:0000252	Microcephaly
OMIM:611291	NHEJ1	79840	HP:0001873	Thrombocytopenia
OMIM:611291	NHEJ1	79840	HP:0002960	Autoimmunity
OMIM:611291	NHEJ1	79840	HP:0001903	Anemia
OMIM:611291	NHEJ1	79840	HP:0004313	Decreased antibody level in blood
OMIM:611291	NHEJ1	79840	HP:0005105	Abnormal nasal morphology
OMIM:611291	NHEJ1	79840	HP:0005374	Cellular immunodeficiency
OMIM:611291	NHEJ1	79840	HP:0000347	Micrognathia
OMIM:611291	NHEJ1	79840	HP:0000444	Convex nasal ridge
OMIM:611291	NHEJ1	79840	HP:0000340	Sloping forehead
OMIM:300799	ZDHHC9	51114	HP:0000768	Pectus carinatum
OMIM:300799	ZDHHC9	51114	HP:0000486	Strabismus
OMIM:300799	ZDHHC9	51114	HP:0000708	Behavioral abnormality
OMIM:300799	ZDHHC9	51114	HP:0001417	X-linked inheritance
OMIM:300799	ZDHHC9	51114	HP:0000411	Protruding ear
OMIM:300799	ZDHHC9	51114	HP:0001166	Arachnodactyly
OMIM:300799	ZDHHC9	51114	HP:0001763	Pes planus
OMIM:300799	ZDHHC9	51114	HP:0001249	Intellectual disability
OMIM:614250	HLA-DRB1	3123	HP:0000006	Autosomal dominant inheritance
OMIM:614250	HLA-DRB1	3123	HP:0001513	Obesity
OMIM:614250	HLA-DRB1	3123	HP:0002189	Excessive daytime sleepiness
OMIM:614250	MOG	4340	HP:0000006	Autosomal dominant inheritance
OMIM:614250	MOG	4340	HP:0001513	Obesity
OMIM:614250	MOG	4340	HP:0002189	Excessive daytime sleepiness
OMIM:614250	HCRT	3060	HP:0000006	Autosomal dominant inheritance
OMIM:614250	HCRT	3060	HP:0001513	Obesity
OMIM:614250	HCRT	3060	HP:0002189	Excessive daytime sleepiness
OMIM:614250	CTSH	1512	HP:0000006	Autosomal dominant inheritance
OMIM:614250	CTSH	1512	HP:0001513	Obesity
OMIM:614250	CTSH	1512	HP:0002189	Excessive daytime sleepiness
OMIM:614250	P2RY11	5032	HP:0000006	Autosomal dominant inheritance
OMIM:614250	P2RY11	5032	HP:0001513	Obesity
OMIM:614250	P2RY11	5032	HP:0002189	Excessive daytime sleepiness
OMIM:614250	ZNF365	22891	HP:0000006	Autosomal dominant inheritance
OMIM:614250	ZNF365	22891	HP:0001513	Obesity
OMIM:614250	ZNF365	22891	HP:0002189	Excessive daytime sleepiness
OMIM:614250	TNFSF4	7292	HP:0000006	Autosomal dominant inheritance
OMIM:614250	TNFSF4	7292	HP:0001513	Obesity
OMIM:614250	TNFSF4	7292	HP:0002189	Excessive daytime sleepiness
OMIM:614250	HLA-DQB1	3119	HP:0000006	Autosomal dominant inheritance
OMIM:614250	HLA-DQB1	3119	HP:0001513	Obesity
OMIM:614250	HLA-DQB1	3119	HP:0002189	Excessive daytime sleepiness
OMIM:612446	C5	727	HP:0004431	Complement deficiency
OMIM:612446	C5	727	HP:0005381	Recurrent meningococcal disease
OMIM:612446	C5	727	HP:0000007	Autosomal recessive inheritance
OMIM:612446	C6	729	HP:0004431	Complement deficiency
OMIM:612446	C6	729	HP:0005381	Recurrent meningococcal disease
OMIM:612446	C6	729	HP:0000007	Autosomal recessive inheritance
OMIM:612446	C7	730	HP:0004431	Complement deficiency
OMIM:612446	C7	730	HP:0005381	Recurrent meningococcal disease
OMIM:612446	C7	730	HP:0000007	Autosomal recessive inheritance
OMIM:612446	C8A	731	HP:0004431	Complement deficiency
OMIM:612446	C8A	731	HP:0005381	Recurrent meningococcal disease
OMIM:612446	C8A	731	HP:0000007	Autosomal recessive inheritance
OMIM:612446	C8B	732	HP:0004431	Complement deficiency
OMIM:612446	C8B	732	HP:0005381	Recurrent meningococcal disease
OMIM:612446	C8B	732	HP:0000007	Autosomal recessive inheritance
OMIM:612446	C8G	733	HP:0004431	Complement deficiency
OMIM:612446	C8G	733	HP:0005381	Recurrent meningococcal disease
OMIM:612446	C8G	733	HP:0000007	Autosomal recessive inheritance
OMIM:612446	C9	735	HP:0004431	Complement deficiency
OMIM:612446	C9	735	HP:0005381	Recurrent meningococcal disease
OMIM:612446	C9	735	HP:0000007	Autosomal recessive inheritance
OMIM:227400	F5	2153	HP:0001892	Abnormal bleeding
OMIM:227400	F5	2153	HP:0000421	Epistaxis
OMIM:227400	F5	2153	HP:0000007	Autosomal recessive inheritance
OMIM:227400	F5	2153	HP:0000978	Bruising susceptibility
OMIM:227400	F5	2153	HP:0003010	Prolonged bleeding time
OMIM:615896	LPAR6	10161	HP:0002224	Woolly hair
OMIM:615896	KRT71	112802	HP:0002224	Woolly hair
OMIM:615896	LIPH	200879	HP:0002224	Woolly hair
OMIM:615896	KRT74	121391	HP:0002224	Woolly hair
OMIM:237450	SLCO1B1	10599	HP:0002027	Abdominal pain
OMIM:237450	SLCO1B1	10599	HP:0001000	Abnormality of skin pigmentation
OMIM:237450	SLCO1B1	10599	HP:0004370	Abnormality of temperature regulation
OMIM:237450	SLCO1B1	10599	HP:0000007	Autosomal recessive inheritance
OMIM:237450	SLCO1B1	10599	HP:0001392	Abnormality of the liver
OMIM:237450	SLCO1B1	10599	HP:0000924	Abnormality of the skeletal system
OMIM:237450	SLCO1B1	10599	HP:0004295	Abnormality of the gastric mucosa
OMIM:237450	SLCO1B1	10599	HP:0000952	Jaundice
OMIM:237450	SLCO1B1	10599	HP:0002908	Conjugated hyperbilirubinemia
OMIM:237450	SLCO1B3	28234	HP:0002027	Abdominal pain
OMIM:237450	SLCO1B3	28234	HP:0001000	Abnormality of skin pigmentation
OMIM:237450	SLCO1B3	28234	HP:0004370	Abnormality of temperature regulation
OMIM:237450	SLCO1B3	28234	HP:0000007	Autosomal recessive inheritance
OMIM:237450	SLCO1B3	28234	HP:0001392	Abnormality of the liver
OMIM:237450	SLCO1B3	28234	HP:0000924	Abnormality of the skeletal system
OMIM:237450	SLCO1B3	28234	HP:0004295	Abnormality of the gastric mucosa
OMIM:237450	SLCO1B3	28234	HP:0000952	Jaundice
OMIM:237450	SLCO1B3	28234	HP:0002908	Conjugated hyperbilirubinemia
OMIM:223370	NSUN2	54888	HP:0001511	Intrauterine growth retardation
OMIM:223370	NSUN2	54888	HP:0002665	Lymphoma
OMIM:223370	NSUN2	54888	HP:0010935	Abnormality of the upper urinary tract
OMIM:223370	NSUN2	54888	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:223370	NSUN2	54888	HP:0000506	Telecanthus
OMIM:223370	NSUN2	54888	HP:0000252	Microcephaly
OMIM:223370	NSUN2	54888	HP:0001382	Joint hypermobility
OMIM:223370	NSUN2	54888	HP:0000829	Hypoparathyroidism
OMIM:223370	NSUN2	54888	HP:0004209	Clinodactyly of the 5th finger
OMIM:223370	NSUN2	54888	HP:0002020	Gastroesophageal reflux
OMIM:223370	NSUN2	54888	HP:0000294	Low anterior hairline
OMIM:223370	NSUN2	54888	HP:0000965	Cutis marmorata
OMIM:223370	NSUN2	54888	HP:0004322	Short stature
OMIM:223370	NSUN2	54888	HP:0000369	Low-set ears
OMIM:223370	NSUN2	54888	HP:0000028	Cryptorchidism
OMIM:223370	NSUN2	54888	HP:0003298	Spina bifida occulta
OMIM:223370	NSUN2	54888	HP:0000684	Delayed eruption of teeth
OMIM:223370	NSUN2	54888	HP:0000736	Short attention span
OMIM:223370	NSUN2	54888	HP:0002650	Scoliosis
OMIM:223370	NSUN2	54888	HP:0000486	Strabismus
OMIM:223370	NSUN2	54888	HP:0000175	Cleft palate
OMIM:223370	NSUN2	54888	HP:0008897	Postnatal growth retardation
OMIM:223370	NSUN2	54888	HP:0012745	Short palpebral fissure
OMIM:223370	NSUN2	54888	HP:0001252	Muscular hypotonia
OMIM:223370	NSUN2	54888	HP:0000581	Blepharophimosis
OMIM:223370	NSUN2	54888	HP:0003006	Neuroblastoma
OMIM:223370	NSUN2	54888	HP:0004315	IgG deficiency
OMIM:223370	NSUN2	54888	HP:0000750	Delayed speech and language development
OMIM:223370	NSUN2	54888	HP:0002209	Sparse scalp hair
OMIM:223370	NSUN2	54888	HP:0000960	Sacral dimple
OMIM:223370	NSUN2	54888	HP:0001903	Anemia
OMIM:223370	NSUN2	54888	HP:0005338	Sparse lateral eyebrow
OMIM:223370	NSUN2	54888	HP:0009738	Abnormality of the antihelix
OMIM:223370	NSUN2	54888	HP:0006349	Agenesis of permanent teeth
OMIM:223370	NSUN2	54888	HP:0005280	Depressed nasal bridge
OMIM:223370	NSUN2	54888	HP:0000612	Iris coloboma
OMIM:223370	NSUN2	54888	HP:0009602	Abnormality of thumb phalanx
OMIM:223370	NSUN2	54888	HP:0000176	Submucous cleft hard palate
OMIM:223370	NSUN2	54888	HP:0007018	Attention deficit hyperactivity disorder
OMIM:223370	NSUN2	54888	HP:0000767	Pectus excavatum
OMIM:223370	NSUN2	54888	HP:0000545	Myopia
OMIM:223370	NSUN2	54888	HP:0002719	Recurrent infections
OMIM:223370	NSUN2	54888	HP:0001770	Toe syndactyly
OMIM:223370	NSUN2	54888	HP:0000286	Epicanthus
OMIM:223370	NSUN2	54888	HP:0001250	Seizures
OMIM:223370	NSUN2	54888	HP:0000348	High forehead
OMIM:223370	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:223370	NSUN2	54888	HP:0100627	Displacement of the external urethral meatus
OMIM:223370	NSUN2	54888	HP:0000218	High palate
OMIM:223370	NSUN2	54888	HP:0000639	Nystagmus
OMIM:223370	NSUN2	54888	HP:0000568	Microphthalmia
OMIM:223370	NSUN2	54888	HP:0001620	High pitched voice
OMIM:223370	NSUN2	54888	HP:0001915	Aplastic anemia
OMIM:223370	NSUN2	54888	HP:0000540	Hypermetropia
OMIM:223370	NSUN2	54888	HP:0000388	Otitis media
OMIM:223370	NSUN2	54888	HP:0000275	Narrow face
OMIM:223370	NSUN2	54888	HP:0000992	Cutaneous photosensitivity
OMIM:223370	NSUN2	54888	HP:0001800	Hypoplastic toenails
OMIM:223370	NSUN2	54888	HP:0000964	Eczema
OMIM:223370	NSUN2	54888	HP:0000220	Velopharyngeal insufficiency
OMIM:223370	NSUN2	54888	HP:0000347	Micrognathia
OMIM:223370	NSUN2	54888	HP:0000023	Inguinal hernia
OMIM:223370	NSUN2	54888	HP:0000368	Low-set, posteriorly rotated ears
OMIM:223370	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:223370	NSUN2	54888	HP:0000431	Wide nasal bridge
OMIM:223370	NSUN2	54888	HP:0000154	Wide mouth
OMIM:223370	NSUN2	54888	HP:0000324	Facial asymmetry
OMIM:223370	NSUN2	54888	HP:0000958	Dry skin
OMIM:223370	NSUN2	54888	HP:0001883	Talipes
OMIM:223370	NSUN2	54888	HP:0000455	Broad nasal tip
OMIM:223370	NSUN2	54888	HP:0000752	Hyperactivity
OMIM:223370	NSUN2	54888	HP:0002750	Delayed skeletal maturation
OMIM:223370	NSUN2	54888	HP:0000340	Sloping forehead
OMIM:223370	NSUN2	54888	HP:0000508	Ptosis
OMIM:223370	NSUN2	54888	HP:0000670	Carious teeth
OMIM:223370	NSUN2	54888	HP:0002213	Fine hair
OMIM:223370	NSUN2	54888	HP:0000055	Abnormality of female external genitalia
OMIM:223370	NSUN2	54888	HP:0002093	Respiratory insufficiency
OMIM:223370	NSUN2	54888	HP:0000047	Hypospadias
OMIM:223370	NSUN2	54888	HP:0004279	Short palm
OMIM:223370	NSUN2	54888	HP:0001840	Metatarsus adductus
OMIM:223370	NSUN2	54888	HP:0008872	Feeding difficulties in infancy
OMIM:223370	NSUN2	54888	HP:0002099	Asthma
OMIM:223370	NSUN2	54888	HP:0009891	Underdeveloped supraorbital ridges
OMIM:223370	NSUN2	54888	HP:0000316	Hypertelorism
OMIM:223370	NSUN2	54888	HP:0002024	Malabsorption
OMIM:223370	NSUN2	54888	HP:0000274	Small face
OMIM:223370	NSUN2	54888	HP:0000238	Hydrocephalus
OMIM:223370	NSUN2	54888	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:223370	NSUN2	54888	HP:0001873	Thrombocytopenia
OMIM:223370	NSUN2	54888	HP:0001000	Abnormality of skin pigmentation
OMIM:223370	NSUN2	54888	HP:0001874	Abnormality of neutrophils
OMIM:223370	NSUN2	54888	HP:0006721	Acute lymphoblastic leukemia
OMIM:223370	NSUN2	54888	HP:0001156	Brachydactyly syndrome
OMIM:223370	NSUN2	54888	HP:0002028	Chronic diarrhea
OMIM:223370	NSUN2	54888	HP:0000411	Protruding ear
OMIM:223370	NSUN2	54888	HP:0001231	Abnormality of the fingernails
OMIM:223370	NSUN2	54888	HP:0100543	Cognitive impairment
OMIM:223370	NSUN2	54888	HP:0001363	Craniosynostosis
OMIM:223370	NSUN2	54888	HP:0000485	Megalocornea
OMIM:223370	NSUN2	54888	HP:0000518	Cataract
OMIM:223370	NSUN2	54888	HP:0001852	Sandal gap
OMIM:223370	NSUN2	54888	HP:0001763	Pes planus
OMIM:223370	NSUN2	54888	HP:0001773	Short foot
OMIM:223370	NSUN2	54888	HP:0011362	Abnormal hair quantity
OMIM:223370	NSUN2	54888	HP:0000365	Hearing impairment
OMIM:223370	LIG4	3981	HP:0001511	Intrauterine growth retardation
OMIM:223370	LIG4	3981	HP:0002665	Lymphoma
OMIM:223370	LIG4	3981	HP:0010935	Abnormality of the upper urinary tract
OMIM:223370	LIG4	3981	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:223370	LIG4	3981	HP:0000506	Telecanthus
OMIM:223370	LIG4	3981	HP:0000252	Microcephaly
OMIM:223370	LIG4	3981	HP:0001382	Joint hypermobility
OMIM:223370	LIG4	3981	HP:0000829	Hypoparathyroidism
OMIM:223370	LIG4	3981	HP:0004209	Clinodactyly of the 5th finger
OMIM:223370	LIG4	3981	HP:0002020	Gastroesophageal reflux
OMIM:223370	LIG4	3981	HP:0000294	Low anterior hairline
OMIM:223370	LIG4	3981	HP:0000965	Cutis marmorata
OMIM:223370	LIG4	3981	HP:0004322	Short stature
OMIM:223370	LIG4	3981	HP:0000369	Low-set ears
OMIM:223370	LIG4	3981	HP:0000028	Cryptorchidism
OMIM:223370	LIG4	3981	HP:0003298	Spina bifida occulta
OMIM:223370	LIG4	3981	HP:0000684	Delayed eruption of teeth
OMIM:223370	LIG4	3981	HP:0000736	Short attention span
OMIM:223370	LIG4	3981	HP:0002650	Scoliosis
OMIM:223370	LIG4	3981	HP:0000486	Strabismus
OMIM:223370	LIG4	3981	HP:0000175	Cleft palate
OMIM:223370	LIG4	3981	HP:0008897	Postnatal growth retardation
OMIM:223370	LIG4	3981	HP:0012745	Short palpebral fissure
OMIM:223370	LIG4	3981	HP:0001252	Muscular hypotonia
OMIM:223370	LIG4	3981	HP:0000581	Blepharophimosis
OMIM:223370	LIG4	3981	HP:0003006	Neuroblastoma
OMIM:223370	LIG4	3981	HP:0004315	IgG deficiency
OMIM:223370	LIG4	3981	HP:0000750	Delayed speech and language development
OMIM:223370	LIG4	3981	HP:0002209	Sparse scalp hair
OMIM:223370	LIG4	3981	HP:0000960	Sacral dimple
OMIM:223370	LIG4	3981	HP:0001903	Anemia
OMIM:223370	LIG4	3981	HP:0005338	Sparse lateral eyebrow
OMIM:223370	LIG4	3981	HP:0009738	Abnormality of the antihelix
OMIM:223370	LIG4	3981	HP:0006349	Agenesis of permanent teeth
OMIM:223370	LIG4	3981	HP:0005280	Depressed nasal bridge
OMIM:223370	LIG4	3981	HP:0000612	Iris coloboma
OMIM:223370	LIG4	3981	HP:0009602	Abnormality of thumb phalanx
OMIM:223370	LIG4	3981	HP:0000176	Submucous cleft hard palate
OMIM:223370	LIG4	3981	HP:0007018	Attention deficit hyperactivity disorder
OMIM:223370	LIG4	3981	HP:0000767	Pectus excavatum
OMIM:223370	LIG4	3981	HP:0000545	Myopia
OMIM:223370	LIG4	3981	HP:0002719	Recurrent infections
OMIM:223370	LIG4	3981	HP:0001770	Toe syndactyly
OMIM:223370	LIG4	3981	HP:0000286	Epicanthus
OMIM:223370	LIG4	3981	HP:0001250	Seizures
OMIM:223370	LIG4	3981	HP:0000348	High forehead
OMIM:223370	LIG4	3981	HP:0001249	Intellectual disability
OMIM:223370	LIG4	3981	HP:0100627	Displacement of the external urethral meatus
OMIM:223370	LIG4	3981	HP:0000218	High palate
OMIM:223370	LIG4	3981	HP:0000639	Nystagmus
OMIM:223370	LIG4	3981	HP:0000568	Microphthalmia
OMIM:223370	LIG4	3981	HP:0001620	High pitched voice
OMIM:223370	LIG4	3981	HP:0001915	Aplastic anemia
OMIM:223370	LIG4	3981	HP:0000540	Hypermetropia
OMIM:223370	LIG4	3981	HP:0000388	Otitis media
OMIM:223370	LIG4	3981	HP:0000275	Narrow face
OMIM:223370	LIG4	3981	HP:0000992	Cutaneous photosensitivity
OMIM:223370	LIG4	3981	HP:0001800	Hypoplastic toenails
OMIM:223370	LIG4	3981	HP:0000964	Eczema
OMIM:223370	LIG4	3981	HP:0000220	Velopharyngeal insufficiency
OMIM:223370	LIG4	3981	HP:0000347	Micrognathia
OMIM:223370	LIG4	3981	HP:0000023	Inguinal hernia
OMIM:223370	LIG4	3981	HP:0000368	Low-set, posteriorly rotated ears
OMIM:223370	LIG4	3981	HP:0000007	Autosomal recessive inheritance
OMIM:223370	LIG4	3981	HP:0000431	Wide nasal bridge
OMIM:223370	LIG4	3981	HP:0000154	Wide mouth
OMIM:223370	LIG4	3981	HP:0000324	Facial asymmetry
OMIM:223370	LIG4	3981	HP:0000958	Dry skin
OMIM:223370	LIG4	3981	HP:0001883	Talipes
OMIM:223370	LIG4	3981	HP:0000455	Broad nasal tip
OMIM:223370	LIG4	3981	HP:0000752	Hyperactivity
OMIM:223370	LIG4	3981	HP:0002750	Delayed skeletal maturation
OMIM:223370	LIG4	3981	HP:0000340	Sloping forehead
OMIM:223370	LIG4	3981	HP:0000508	Ptosis
OMIM:223370	LIG4	3981	HP:0000670	Carious teeth
OMIM:223370	LIG4	3981	HP:0002213	Fine hair
OMIM:223370	LIG4	3981	HP:0000055	Abnormality of female external genitalia
OMIM:223370	LIG4	3981	HP:0002093	Respiratory insufficiency
OMIM:223370	LIG4	3981	HP:0000047	Hypospadias
OMIM:223370	LIG4	3981	HP:0004279	Short palm
OMIM:223370	LIG4	3981	HP:0001840	Metatarsus adductus
OMIM:223370	LIG4	3981	HP:0008872	Feeding difficulties in infancy
OMIM:223370	LIG4	3981	HP:0002099	Asthma
OMIM:223370	LIG4	3981	HP:0009891	Underdeveloped supraorbital ridges
OMIM:223370	LIG4	3981	HP:0000316	Hypertelorism
OMIM:223370	LIG4	3981	HP:0002024	Malabsorption
OMIM:223370	LIG4	3981	HP:0000274	Small face
OMIM:223370	LIG4	3981	HP:0000238	Hydrocephalus
OMIM:223370	LIG4	3981	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:223370	LIG4	3981	HP:0001873	Thrombocytopenia
OMIM:223370	LIG4	3981	HP:0001000	Abnormality of skin pigmentation
OMIM:223370	LIG4	3981	HP:0001874	Abnormality of neutrophils
OMIM:223370	LIG4	3981	HP:0006721	Acute lymphoblastic leukemia
OMIM:223370	LIG4	3981	HP:0001156	Brachydactyly syndrome
OMIM:223370	LIG4	3981	HP:0002028	Chronic diarrhea
OMIM:223370	LIG4	3981	HP:0000411	Protruding ear
OMIM:223370	LIG4	3981	HP:0001231	Abnormality of the fingernails
OMIM:223370	LIG4	3981	HP:0100543	Cognitive impairment
OMIM:223370	LIG4	3981	HP:0001363	Craniosynostosis
OMIM:223370	LIG4	3981	HP:0000485	Megalocornea
OMIM:223370	LIG4	3981	HP:0000518	Cataract
OMIM:223370	LIG4	3981	HP:0001852	Sandal gap
OMIM:223370	LIG4	3981	HP:0001763	Pes planus
OMIM:223370	LIG4	3981	HP:0001773	Short foot
OMIM:223370	LIG4	3981	HP:0011362	Abnormal hair quantity
OMIM:223370	LIG4	3981	HP:0000365	Hearing impairment
OMIM:115196	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:115196	TPM1	7168	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614732	CDKN1C	1028	HP:0000047	Hypospadias
OMIM:614732	CDKN1C	1028	HP:0000369	Low-set ears
OMIM:614732	CDKN1C	1028	HP:0001511	Intrauterine growth retardation
OMIM:614732	CDKN1C	1028	HP:0005280	Depressed nasal bridge
OMIM:614732	CDKN1C	1028	HP:0100627	Displacement of the external urethral meatus
OMIM:614732	CDKN1C	1028	HP:0002007	Frontal bossing
OMIM:614732	CDKN1C	1028	HP:0001263	Global developmental delay
OMIM:614732	CDKN1C	1028	HP:0000006	Autosomal dominant inheritance
OMIM:614732	CDKN1C	1028	HP:0002750	Delayed skeletal maturation
OMIM:614732	CDKN1C	1028	HP:0000028	Cryptorchidism
OMIM:614732	CDKN1C	1028	HP:0010935	Abnormality of the upper urinary tract
OMIM:614732	CDKN1C	1028	HP:0000834	Abnormality of the adrenal glands
OMIM:614732	CDKN1C	1028	HP:0003196	Short nose
OMIM:614732	CDKN1C	1028	HP:0008897	Postnatal growth retardation
OMIM:614732	CDKN1C	1028	HP:0000835	Adrenal hypoplasia
OMIM:614732	CDKN1C	1028	HP:0001252	Muscular hypotonia
OMIM:614732	CDKN1C	1028	HP:0000256	Macrocephaly
OMIM:614732	CDKN1C	1028	HP:0002983	Micromelia
OMIM:614732	CDKN1C	1028	HP:0002150	Hypercalciuria
OMIM:614732	CDKN1C	1028	HP:0100255	Metaphyseal dysplasia
OMIM:614732	CDKN1C	1028	HP:0000824	Growth hormone deficiency
OMIM:614732	CDKN1C	1028	HP:0003072	Hypercalcemia
OMIM:614732	CDKN1C	1028	HP:0011220	Prominent forehead
OMIM:614732	CDKN1C	1028	HP:0000054	Micropenis
OMIM:614732	CDKN1C	1028	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:915	FGD1	2245	HP:0000684	Delayed eruption of teeth
ORPHANET:915	FGD1	2245	HP:0000494	Downslanted palpebral fissures
ORPHANET:915	FGD1	2245	HP:0000463	Anteverted nares
ORPHANET:915	FGD1	2245	HP:0000470	Short neck
ORPHANET:915	FGD1	2245	HP:0000175	Cleft palate
ORPHANET:915	FGD1	2245	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:915	FGD1	2245	HP:0001831	Short toe
ORPHANET:915	FGD1	2245	HP:0000337	Broad forehead
ORPHANET:915	FGD1	2245	HP:0000286	Epicanthus
ORPHANET:915	FGD1	2245	HP:0000232	Everted lower lip vermilion
ORPHANET:915	FGD1	2245	HP:0000767	Pectus excavatum
ORPHANET:915	FGD1	2245	HP:0004322	Short stature
ORPHANET:915	FGD1	2245	HP:0100543	Cognitive impairment
ORPHANET:915	FGD1	2245	HP:0000316	Hypertelorism
ORPHANET:915	FGD1	2245	HP:0001883	Talipes
ORPHANET:915	FGD1	2245	HP:0004279	Short palm
ORPHANET:915	FGD1	2245	HP:0002816	Genu recurvatum
ORPHANET:915	FGD1	2245	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:915	FGD1	2245	HP:0006101	Finger syndactyly
ORPHANET:915	FGD1	2245	HP:0001537	Umbilical hernia
ORPHANET:915	FGD1	2245	HP:0000486	Strabismus
ORPHANET:915	FGD1	2245	HP:0000204	Cleft upper lip
ORPHANET:915	FGD1	2245	HP:0001156	Brachydactyly syndrome
ORPHANET:915	FGD1	2245	HP:0000028	Cryptorchidism
ORPHANET:915	FGD1	2245	HP:0000431	Wide nasal bridge
ORPHANET:915	FGD1	2245	HP:0009890	High anterior hairline
ORPHANET:915	FGD1	2245	HP:0000485	Megalocornea
ORPHANET:915	FGD1	2245	HP:0000974	Hyperextensible skin
ORPHANET:915	FGD1	2245	HP:0008572	External ear malformation
ORPHANET:915	FGD1	2245	HP:0001635	Congestive heart failure
ORPHANET:915	FGD1	2245	HP:0000049	Shawl scrotum
ORPHANET:915	FGD1	2245	HP:0100490	Camptodactyly of finger
ORPHANET:915	FGD1	2245	HP:0000311	Round face
ORPHANET:915	FGD1	2245	HP:0001382	Joint hypermobility
ORPHANET:915	FGD1	2245	HP:0001763	Pes planus
ORPHANET:915	FGD1	2245	HP:0000508	Ptosis
ORPHANET:915	FGD1	2245	HP:0000343	Long philtrum
ORPHANET:915	FGD1	2245	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:915	FGD1	2245	HP:0000954	Single transverse palmar crease
OMIM:300706	HUWE1	10075	HP:0001417	X-linked inheritance
OMIM:300706	HUWE1	10075	HP:0001249	Intellectual disability
OMIM:300706	HUWE1	10075	HP:0000053	Macroorchidism
OMIM:300706	HUWE1	10075	HP:0001182	Tapered finger
OMIM:300706	HUWE1	10075	HP:0000256	Macrocephaly
OMIM:300706	HUWE1	10075	HP:0001360	Holoprosencephaly
OMIM:613347	BRCA1	672	HP:0002894	Neoplasm of the pancreas
OMIM:613347	PALB2	79728	HP:0002894	Neoplasm of the pancreas
OMIM:613347	BRCA2	675	HP:0002894	Neoplasm of the pancreas
OMIM:613347	CDKN2A	1029	HP:0002894	Neoplasm of the pancreas
OMIM:613347	TP53	7157	HP:0002894	Neoplasm of the pancreas
OMIM:613347	KRAS	3845	HP:0002894	Neoplasm of the pancreas
OMIM:613347	SMAD4	4089	HP:0002894	Neoplasm of the pancreas
OMIM:613347	PALLD	23022	HP:0002894	Neoplasm of the pancreas
OMIM:600223	PLEKHG4	25894	HP:0001265	Hyporeflexia
OMIM:600223	PLEKHG4	25894	HP:0002406	Limb dysmetria
OMIM:600223	PLEKHG4	25894	HP:0001284	Areflexia
OMIM:600223	PLEKHG4	25894	HP:0003487	Babinski sign
OMIM:600223	PLEKHG4	25894	HP:0007772	Impaired smooth pursuit
OMIM:600223	PLEKHG4	25894	HP:0000763	Sensory neuropathy
OMIM:600223	PLEKHG4	25894	HP:0001272	Cerebellar atrophy
OMIM:600223	PLEKHG4	25894	HP:0002936	Distal sensory impairment
OMIM:600223	PLEKHG4	25894	HP:0000006	Autosomal dominant inheritance
OMIM:600223	PLEKHG4	25894	HP:0001260	Dysarthria
OMIM:128100	TOR1A	1861	HP:0003307	Hyperlordosis
OMIM:128100	TOR1A	1861	HP:0000006	Autosomal dominant inheritance
OMIM:128100	TOR1A	1861	HP:0001252	Muscular hypotonia
OMIM:128100	TOR1A	1861	HP:0003829	Incomplete penetrance
OMIM:128100	TOR1A	1861	HP:0001276	Hypertonia
OMIM:128100	TOR1A	1861	HP:0002356	Writer's cramp
OMIM:128100	TOR1A	1861	HP:0002533	Abnormal posturing
OMIM:128100	TOR1A	1861	HP:0000643	Blepharospasm
OMIM:128100	TOR1A	1861	HP:0002650	Scoliosis
OMIM:128100	TOR1A	1861	HP:0000473	Torticollis
OMIM:128100	TOR1A	1861	HP:0001337	Tremor
OMIM:128100	TOR1A	1861	HP:0001260	Dysarthria
OMIM:128100	TOR1A	1861	HP:0002808	Kyphosis
OMIM:128100	TOR1A	1861	HP:0001304	Torsion dystonia
OMIM:163950	RIT1	6016	HP:0000465	Webbed neck
OMIM:163950	RIT1	6016	HP:0008897	Postnatal growth retardation
OMIM:163950	RIT1	6016	HP:0000508	Ptosis
OMIM:163950	RIT1	6016	HP:0030084	Clinodactyly
OMIM:163950	RIT1	6016	HP:0000028	Cryptorchidism
OMIM:163950	RIT1	6016	HP:0001249	Intellectual disability
OMIM:163950	RIT1	6016	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	RIT1	6016	HP:0002751	Kyphoscoliosis
OMIM:163950	RIT1	6016	HP:0000917	Superior pectus carinatum
OMIM:163950	RIT1	6016	HP:0001892	Abnormal bleeding
OMIM:163950	RIT1	6016	HP:0001643	Patent ductus arteriosus
OMIM:163950	RIT1	6016	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	RIT1	6016	HP:0000407	Sensorineural hearing impairment
OMIM:163950	RIT1	6016	HP:0004322	Short stature
OMIM:163950	RIT1	6016	HP:0000545	Myopia
OMIM:163950	RIT1	6016	HP:0000286	Epicanthus
OMIM:163950	RIT1	6016	HP:0004841	Reduced factor XII activity
OMIM:163950	RIT1	6016	HP:0009466	Radial deviation of finger
OMIM:163950	RIT1	6016	HP:0000135	Hypogonadism
OMIM:163950	RIT1	6016	HP:0001156	Brachydactyly syndrome
OMIM:163950	RIT1	6016	HP:0001629	Ventricular septal defect
OMIM:163950	RIT1	6016	HP:0100697	Neurofibrosarcoma
OMIM:163950	RIT1	6016	HP:0000316	Hypertelorism
OMIM:163950	RIT1	6016	HP:0000470	Short neck
OMIM:163950	RIT1	6016	HP:0000006	Autosomal dominant inheritance
OMIM:163950	RIT1	6016	HP:0000218	High palate
OMIM:163950	RIT1	6016	HP:0000476	Cystic hygroma
OMIM:163950	RIT1	6016	HP:0001425	Heterogeneous
OMIM:163950	RIT1	6016	HP:0008357	Reduced factor XIII activity
OMIM:163950	RIT1	6016	HP:0001631	Atria septal defect
OMIM:163950	RIT1	6016	HP:0003251	Male infertility
OMIM:163950	RIT1	6016	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	RIT1	6016	HP:0000325	Triangular face
OMIM:163950	RIT1	6016	HP:0100769	Synovitis
OMIM:163950	RIT1	6016	HP:0001004	Lymphedema
OMIM:163950	RIT1	6016	HP:0002967	Cubitus valgus
OMIM:163950	RIT1	6016	HP:0001680	Coarctation of aorta
OMIM:163950	RIT1	6016	HP:0002162	Low posterior hairline
OMIM:163950	RIT1	6016	HP:0000494	Downslanted palpebral fissures
OMIM:163950	RIT1	6016	HP:0001531	Failure to thrive in infancy
OMIM:163950	RIT1	6016	HP:0001642	Pulmonic stenosis
OMIM:163950	RIT1	6016	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	RIT1	6016	HP:0000347	Micrognathia
OMIM:163950	RIT1	6016	HP:0000914	Shield chest
OMIM:163950	RIT1	6016	HP:0000689	Dental malocclusion
OMIM:163950	BRAF	673	HP:0000465	Webbed neck
OMIM:163950	BRAF	673	HP:0008897	Postnatal growth retardation
OMIM:163950	BRAF	673	HP:0000508	Ptosis
OMIM:163950	BRAF	673	HP:0030084	Clinodactyly
OMIM:163950	BRAF	673	HP:0000028	Cryptorchidism
OMIM:163950	BRAF	673	HP:0001249	Intellectual disability
OMIM:163950	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	BRAF	673	HP:0002751	Kyphoscoliosis
OMIM:163950	BRAF	673	HP:0000917	Superior pectus carinatum
OMIM:163950	BRAF	673	HP:0001892	Abnormal bleeding
OMIM:163950	BRAF	673	HP:0001643	Patent ductus arteriosus
OMIM:163950	BRAF	673	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	BRAF	673	HP:0000407	Sensorineural hearing impairment
OMIM:163950	BRAF	673	HP:0004322	Short stature
OMIM:163950	BRAF	673	HP:0000545	Myopia
OMIM:163950	BRAF	673	HP:0000286	Epicanthus
OMIM:163950	BRAF	673	HP:0004841	Reduced factor XII activity
OMIM:163950	BRAF	673	HP:0009466	Radial deviation of finger
OMIM:163950	BRAF	673	HP:0000135	Hypogonadism
OMIM:163950	BRAF	673	HP:0001156	Brachydactyly syndrome
OMIM:163950	BRAF	673	HP:0001629	Ventricular septal defect
OMIM:163950	BRAF	673	HP:0100697	Neurofibrosarcoma
OMIM:163950	BRAF	673	HP:0000316	Hypertelorism
OMIM:163950	BRAF	673	HP:0000470	Short neck
OMIM:163950	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:163950	BRAF	673	HP:0000218	High palate
OMIM:163950	BRAF	673	HP:0000476	Cystic hygroma
OMIM:163950	BRAF	673	HP:0001425	Heterogeneous
OMIM:163950	BRAF	673	HP:0008357	Reduced factor XIII activity
OMIM:163950	BRAF	673	HP:0001631	Atria septal defect
OMIM:163950	BRAF	673	HP:0003251	Male infertility
OMIM:163950	BRAF	673	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	BRAF	673	HP:0000325	Triangular face
OMIM:163950	BRAF	673	HP:0100769	Synovitis
OMIM:163950	BRAF	673	HP:0001004	Lymphedema
OMIM:163950	BRAF	673	HP:0002967	Cubitus valgus
OMIM:163950	BRAF	673	HP:0001680	Coarctation of aorta
OMIM:163950	BRAF	673	HP:0002162	Low posterior hairline
OMIM:163950	BRAF	673	HP:0000494	Downslanted palpebral fissures
OMIM:163950	BRAF	673	HP:0001531	Failure to thrive in infancy
OMIM:163950	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:163950	BRAF	673	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	BRAF	673	HP:0000347	Micrognathia
OMIM:163950	BRAF	673	HP:0000914	Shield chest
OMIM:163950	BRAF	673	HP:0000689	Dental malocclusion
OMIM:163950	KAT6B	23522	HP:0000465	Webbed neck
OMIM:163950	KAT6B	23522	HP:0008897	Postnatal growth retardation
OMIM:163950	KAT6B	23522	HP:0000508	Ptosis
OMIM:163950	KAT6B	23522	HP:0030084	Clinodactyly
OMIM:163950	KAT6B	23522	HP:0000028	Cryptorchidism
OMIM:163950	KAT6B	23522	HP:0001249	Intellectual disability
OMIM:163950	KAT6B	23522	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	KAT6B	23522	HP:0002751	Kyphoscoliosis
OMIM:163950	KAT6B	23522	HP:0000917	Superior pectus carinatum
OMIM:163950	KAT6B	23522	HP:0001892	Abnormal bleeding
OMIM:163950	KAT6B	23522	HP:0001643	Patent ductus arteriosus
OMIM:163950	KAT6B	23522	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	KAT6B	23522	HP:0000407	Sensorineural hearing impairment
OMIM:163950	KAT6B	23522	HP:0004322	Short stature
OMIM:163950	KAT6B	23522	HP:0000545	Myopia
OMIM:163950	KAT6B	23522	HP:0000286	Epicanthus
OMIM:163950	KAT6B	23522	HP:0004841	Reduced factor XII activity
OMIM:163950	KAT6B	23522	HP:0009466	Radial deviation of finger
OMIM:163950	KAT6B	23522	HP:0000135	Hypogonadism
OMIM:163950	KAT6B	23522	HP:0001156	Brachydactyly syndrome
OMIM:163950	KAT6B	23522	HP:0001629	Ventricular septal defect
OMIM:163950	KAT6B	23522	HP:0100697	Neurofibrosarcoma
OMIM:163950	KAT6B	23522	HP:0000316	Hypertelorism
OMIM:163950	KAT6B	23522	HP:0000470	Short neck
OMIM:163950	KAT6B	23522	HP:0000006	Autosomal dominant inheritance
OMIM:163950	KAT6B	23522	HP:0000218	High palate
OMIM:163950	KAT6B	23522	HP:0000476	Cystic hygroma
OMIM:163950	KAT6B	23522	HP:0001425	Heterogeneous
OMIM:163950	KAT6B	23522	HP:0008357	Reduced factor XIII activity
OMIM:163950	KAT6B	23522	HP:0001631	Atria septal defect
OMIM:163950	KAT6B	23522	HP:0003251	Male infertility
OMIM:163950	KAT6B	23522	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	KAT6B	23522	HP:0000325	Triangular face
OMIM:163950	KAT6B	23522	HP:0100769	Synovitis
OMIM:163950	KAT6B	23522	HP:0001004	Lymphedema
OMIM:163950	KAT6B	23522	HP:0002967	Cubitus valgus
OMIM:163950	KAT6B	23522	HP:0001680	Coarctation of aorta
OMIM:163950	KAT6B	23522	HP:0002162	Low posterior hairline
OMIM:163950	KAT6B	23522	HP:0000494	Downslanted palpebral fissures
OMIM:163950	KAT6B	23522	HP:0001531	Failure to thrive in infancy
OMIM:163950	KAT6B	23522	HP:0001642	Pulmonic stenosis
OMIM:163950	KAT6B	23522	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	KAT6B	23522	HP:0000347	Micrognathia
OMIM:163950	KAT6B	23522	HP:0000914	Shield chest
OMIM:163950	KAT6B	23522	HP:0000689	Dental malocclusion
OMIM:163950	RASA2	5922	HP:0000465	Webbed neck
OMIM:163950	RASA2	5922	HP:0008897	Postnatal growth retardation
OMIM:163950	RASA2	5922	HP:0000508	Ptosis
OMIM:163950	RASA2	5922	HP:0030084	Clinodactyly
OMIM:163950	RASA2	5922	HP:0000028	Cryptorchidism
OMIM:163950	RASA2	5922	HP:0001249	Intellectual disability
OMIM:163950	RASA2	5922	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	RASA2	5922	HP:0002751	Kyphoscoliosis
OMIM:163950	RASA2	5922	HP:0000917	Superior pectus carinatum
OMIM:163950	RASA2	5922	HP:0001892	Abnormal bleeding
OMIM:163950	RASA2	5922	HP:0001643	Patent ductus arteriosus
OMIM:163950	RASA2	5922	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	RASA2	5922	HP:0000407	Sensorineural hearing impairment
OMIM:163950	RASA2	5922	HP:0004322	Short stature
OMIM:163950	RASA2	5922	HP:0000545	Myopia
OMIM:163950	RASA2	5922	HP:0000286	Epicanthus
OMIM:163950	RASA2	5922	HP:0004841	Reduced factor XII activity
OMIM:163950	RASA2	5922	HP:0009466	Radial deviation of finger
OMIM:163950	RASA2	5922	HP:0000135	Hypogonadism
OMIM:163950	RASA2	5922	HP:0001156	Brachydactyly syndrome
OMIM:163950	RASA2	5922	HP:0001629	Ventricular septal defect
OMIM:163950	RASA2	5922	HP:0100697	Neurofibrosarcoma
OMIM:163950	RASA2	5922	HP:0000316	Hypertelorism
OMIM:163950	RASA2	5922	HP:0000470	Short neck
OMIM:163950	RASA2	5922	HP:0000006	Autosomal dominant inheritance
OMIM:163950	RASA2	5922	HP:0000218	High palate
OMIM:163950	RASA2	5922	HP:0000476	Cystic hygroma
OMIM:163950	RASA2	5922	HP:0001425	Heterogeneous
OMIM:163950	RASA2	5922	HP:0008357	Reduced factor XIII activity
OMIM:163950	RASA2	5922	HP:0001631	Atria septal defect
OMIM:163950	RASA2	5922	HP:0003251	Male infertility
OMIM:163950	RASA2	5922	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	RASA2	5922	HP:0000325	Triangular face
OMIM:163950	RASA2	5922	HP:0100769	Synovitis
OMIM:163950	RASA2	5922	HP:0001004	Lymphedema
OMIM:163950	RASA2	5922	HP:0002967	Cubitus valgus
OMIM:163950	RASA2	5922	HP:0001680	Coarctation of aorta
OMIM:163950	RASA2	5922	HP:0002162	Low posterior hairline
OMIM:163950	RASA2	5922	HP:0000494	Downslanted palpebral fissures
OMIM:163950	RASA2	5922	HP:0001531	Failure to thrive in infancy
OMIM:163950	RASA2	5922	HP:0001642	Pulmonic stenosis
OMIM:163950	RASA2	5922	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	RASA2	5922	HP:0000347	Micrognathia
OMIM:163950	RASA2	5922	HP:0000914	Shield chest
OMIM:163950	RASA2	5922	HP:0000689	Dental malocclusion
OMIM:163950	PTPN11	5781	HP:0000465	Webbed neck
OMIM:163950	PTPN11	5781	HP:0008897	Postnatal growth retardation
OMIM:163950	PTPN11	5781	HP:0000508	Ptosis
OMIM:163950	PTPN11	5781	HP:0030084	Clinodactyly
OMIM:163950	PTPN11	5781	HP:0000028	Cryptorchidism
OMIM:163950	PTPN11	5781	HP:0001249	Intellectual disability
OMIM:163950	PTPN11	5781	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	PTPN11	5781	HP:0002751	Kyphoscoliosis
OMIM:163950	PTPN11	5781	HP:0000917	Superior pectus carinatum
OMIM:163950	PTPN11	5781	HP:0001892	Abnormal bleeding
OMIM:163950	PTPN11	5781	HP:0001643	Patent ductus arteriosus
OMIM:163950	PTPN11	5781	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	PTPN11	5781	HP:0000407	Sensorineural hearing impairment
OMIM:163950	PTPN11	5781	HP:0004322	Short stature
OMIM:163950	PTPN11	5781	HP:0000545	Myopia
OMIM:163950	PTPN11	5781	HP:0000286	Epicanthus
OMIM:163950	PTPN11	5781	HP:0004841	Reduced factor XII activity
OMIM:163950	PTPN11	5781	HP:0009466	Radial deviation of finger
OMIM:163950	PTPN11	5781	HP:0000135	Hypogonadism
OMIM:163950	PTPN11	5781	HP:0001156	Brachydactyly syndrome
OMIM:163950	PTPN11	5781	HP:0001629	Ventricular septal defect
OMIM:163950	PTPN11	5781	HP:0100697	Neurofibrosarcoma
OMIM:163950	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:163950	PTPN11	5781	HP:0000470	Short neck
OMIM:163950	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:163950	PTPN11	5781	HP:0000218	High palate
OMIM:163950	PTPN11	5781	HP:0000476	Cystic hygroma
OMIM:163950	PTPN11	5781	HP:0001425	Heterogeneous
OMIM:163950	PTPN11	5781	HP:0008357	Reduced factor XIII activity
OMIM:163950	PTPN11	5781	HP:0001631	Atria septal defect
OMIM:163950	PTPN11	5781	HP:0003251	Male infertility
OMIM:163950	PTPN11	5781	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	PTPN11	5781	HP:0000325	Triangular face
OMIM:163950	PTPN11	5781	HP:0100769	Synovitis
OMIM:163950	PTPN11	5781	HP:0001004	Lymphedema
OMIM:163950	PTPN11	5781	HP:0002967	Cubitus valgus
OMIM:163950	PTPN11	5781	HP:0001680	Coarctation of aorta
OMIM:163950	PTPN11	5781	HP:0002162	Low posterior hairline
OMIM:163950	PTPN11	5781	HP:0000494	Downslanted palpebral fissures
OMIM:163950	PTPN11	5781	HP:0001531	Failure to thrive in infancy
OMIM:163950	PTPN11	5781	HP:0001642	Pulmonic stenosis
OMIM:163950	PTPN11	5781	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	PTPN11	5781	HP:0000347	Micrognathia
OMIM:163950	PTPN11	5781	HP:0000914	Shield chest
OMIM:163950	PTPN11	5781	HP:0000689	Dental malocclusion
OMIM:163950	KRAS	3845	HP:0000465	Webbed neck
OMIM:163950	KRAS	3845	HP:0008897	Postnatal growth retardation
OMIM:163950	KRAS	3845	HP:0000508	Ptosis
OMIM:163950	KRAS	3845	HP:0030084	Clinodactyly
OMIM:163950	KRAS	3845	HP:0000028	Cryptorchidism
OMIM:163950	KRAS	3845	HP:0001249	Intellectual disability
OMIM:163950	KRAS	3845	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	KRAS	3845	HP:0002751	Kyphoscoliosis
OMIM:163950	KRAS	3845	HP:0000917	Superior pectus carinatum
OMIM:163950	KRAS	3845	HP:0001892	Abnormal bleeding
OMIM:163950	KRAS	3845	HP:0001643	Patent ductus arteriosus
OMIM:163950	KRAS	3845	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	KRAS	3845	HP:0000407	Sensorineural hearing impairment
OMIM:163950	KRAS	3845	HP:0004322	Short stature
OMIM:163950	KRAS	3845	HP:0000545	Myopia
OMIM:163950	KRAS	3845	HP:0000286	Epicanthus
OMIM:163950	KRAS	3845	HP:0004841	Reduced factor XII activity
OMIM:163950	KRAS	3845	HP:0009466	Radial deviation of finger
OMIM:163950	KRAS	3845	HP:0000135	Hypogonadism
OMIM:163950	KRAS	3845	HP:0001156	Brachydactyly syndrome
OMIM:163950	KRAS	3845	HP:0001629	Ventricular septal defect
OMIM:163950	KRAS	3845	HP:0100697	Neurofibrosarcoma
OMIM:163950	KRAS	3845	HP:0000316	Hypertelorism
OMIM:163950	KRAS	3845	HP:0000470	Short neck
OMIM:163950	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:163950	KRAS	3845	HP:0000218	High palate
OMIM:163950	KRAS	3845	HP:0000476	Cystic hygroma
OMIM:163950	KRAS	3845	HP:0001425	Heterogeneous
OMIM:163950	KRAS	3845	HP:0008357	Reduced factor XIII activity
OMIM:163950	KRAS	3845	HP:0001631	Atria septal defect
OMIM:163950	KRAS	3845	HP:0003251	Male infertility
OMIM:163950	KRAS	3845	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	KRAS	3845	HP:0000325	Triangular face
OMIM:163950	KRAS	3845	HP:0100769	Synovitis
OMIM:163950	KRAS	3845	HP:0001004	Lymphedema
OMIM:163950	KRAS	3845	HP:0002967	Cubitus valgus
OMIM:163950	KRAS	3845	HP:0001680	Coarctation of aorta
OMIM:163950	KRAS	3845	HP:0002162	Low posterior hairline
OMIM:163950	KRAS	3845	HP:0000494	Downslanted palpebral fissures
OMIM:163950	KRAS	3845	HP:0001531	Failure to thrive in infancy
OMIM:163950	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:163950	KRAS	3845	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	KRAS	3845	HP:0000347	Micrognathia
OMIM:163950	KRAS	3845	HP:0000914	Shield chest
OMIM:163950	KRAS	3845	HP:0000689	Dental malocclusion
OMIM:163950	RAF1	5894	HP:0000465	Webbed neck
OMIM:163950	RAF1	5894	HP:0008897	Postnatal growth retardation
OMIM:163950	RAF1	5894	HP:0000508	Ptosis
OMIM:163950	RAF1	5894	HP:0030084	Clinodactyly
OMIM:163950	RAF1	5894	HP:0000028	Cryptorchidism
OMIM:163950	RAF1	5894	HP:0001249	Intellectual disability
OMIM:163950	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	RAF1	5894	HP:0002751	Kyphoscoliosis
OMIM:163950	RAF1	5894	HP:0000917	Superior pectus carinatum
OMIM:163950	RAF1	5894	HP:0001892	Abnormal bleeding
OMIM:163950	RAF1	5894	HP:0001643	Patent ductus arteriosus
OMIM:163950	RAF1	5894	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	RAF1	5894	HP:0000407	Sensorineural hearing impairment
OMIM:163950	RAF1	5894	HP:0004322	Short stature
OMIM:163950	RAF1	5894	HP:0000545	Myopia
OMIM:163950	RAF1	5894	HP:0000286	Epicanthus
OMIM:163950	RAF1	5894	HP:0004841	Reduced factor XII activity
OMIM:163950	RAF1	5894	HP:0009466	Radial deviation of finger
OMIM:163950	RAF1	5894	HP:0000135	Hypogonadism
OMIM:163950	RAF1	5894	HP:0001156	Brachydactyly syndrome
OMIM:163950	RAF1	5894	HP:0001629	Ventricular septal defect
OMIM:163950	RAF1	5894	HP:0100697	Neurofibrosarcoma
OMIM:163950	RAF1	5894	HP:0000316	Hypertelorism
OMIM:163950	RAF1	5894	HP:0000470	Short neck
OMIM:163950	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:163950	RAF1	5894	HP:0000218	High palate
OMIM:163950	RAF1	5894	HP:0000476	Cystic hygroma
OMIM:163950	RAF1	5894	HP:0001425	Heterogeneous
OMIM:163950	RAF1	5894	HP:0008357	Reduced factor XIII activity
OMIM:163950	RAF1	5894	HP:0001631	Atria septal defect
OMIM:163950	RAF1	5894	HP:0003251	Male infertility
OMIM:163950	RAF1	5894	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	RAF1	5894	HP:0000325	Triangular face
OMIM:163950	RAF1	5894	HP:0100769	Synovitis
OMIM:163950	RAF1	5894	HP:0001004	Lymphedema
OMIM:163950	RAF1	5894	HP:0002967	Cubitus valgus
OMIM:163950	RAF1	5894	HP:0001680	Coarctation of aorta
OMIM:163950	RAF1	5894	HP:0002162	Low posterior hairline
OMIM:163950	RAF1	5894	HP:0000494	Downslanted palpebral fissures
OMIM:163950	RAF1	5894	HP:0001531	Failure to thrive in infancy
OMIM:163950	RAF1	5894	HP:0001642	Pulmonic stenosis
OMIM:163950	RAF1	5894	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	RAF1	5894	HP:0000347	Micrognathia
OMIM:163950	RAF1	5894	HP:0000914	Shield chest
OMIM:163950	RAF1	5894	HP:0000689	Dental malocclusion
OMIM:163950	LZTR1	8216	HP:0000465	Webbed neck
OMIM:163950	LZTR1	8216	HP:0008897	Postnatal growth retardation
OMIM:163950	LZTR1	8216	HP:0000508	Ptosis
OMIM:163950	LZTR1	8216	HP:0030084	Clinodactyly
OMIM:163950	LZTR1	8216	HP:0000028	Cryptorchidism
OMIM:163950	LZTR1	8216	HP:0001249	Intellectual disability
OMIM:163950	LZTR1	8216	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	LZTR1	8216	HP:0002751	Kyphoscoliosis
OMIM:163950	LZTR1	8216	HP:0000917	Superior pectus carinatum
OMIM:163950	LZTR1	8216	HP:0001892	Abnormal bleeding
OMIM:163950	LZTR1	8216	HP:0001643	Patent ductus arteriosus
OMIM:163950	LZTR1	8216	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	LZTR1	8216	HP:0000407	Sensorineural hearing impairment
OMIM:163950	LZTR1	8216	HP:0004322	Short stature
OMIM:163950	LZTR1	8216	HP:0000545	Myopia
OMIM:163950	LZTR1	8216	HP:0000286	Epicanthus
OMIM:163950	LZTR1	8216	HP:0004841	Reduced factor XII activity
OMIM:163950	LZTR1	8216	HP:0009466	Radial deviation of finger
OMIM:163950	LZTR1	8216	HP:0000135	Hypogonadism
OMIM:163950	LZTR1	8216	HP:0001156	Brachydactyly syndrome
OMIM:163950	LZTR1	8216	HP:0001629	Ventricular septal defect
OMIM:163950	LZTR1	8216	HP:0100697	Neurofibrosarcoma
OMIM:163950	LZTR1	8216	HP:0000316	Hypertelorism
OMIM:163950	LZTR1	8216	HP:0000470	Short neck
OMIM:163950	LZTR1	8216	HP:0000006	Autosomal dominant inheritance
OMIM:163950	LZTR1	8216	HP:0000218	High palate
OMIM:163950	LZTR1	8216	HP:0000476	Cystic hygroma
OMIM:163950	LZTR1	8216	HP:0001425	Heterogeneous
OMIM:163950	LZTR1	8216	HP:0008357	Reduced factor XIII activity
OMIM:163950	LZTR1	8216	HP:0001631	Atria septal defect
OMIM:163950	LZTR1	8216	HP:0003251	Male infertility
OMIM:163950	LZTR1	8216	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	LZTR1	8216	HP:0000325	Triangular face
OMIM:163950	LZTR1	8216	HP:0100769	Synovitis
OMIM:163950	LZTR1	8216	HP:0001004	Lymphedema
OMIM:163950	LZTR1	8216	HP:0002967	Cubitus valgus
OMIM:163950	LZTR1	8216	HP:0001680	Coarctation of aorta
OMIM:163950	LZTR1	8216	HP:0002162	Low posterior hairline
OMIM:163950	LZTR1	8216	HP:0000494	Downslanted palpebral fissures
OMIM:163950	LZTR1	8216	HP:0001531	Failure to thrive in infancy
OMIM:163950	LZTR1	8216	HP:0001642	Pulmonic stenosis
OMIM:163950	LZTR1	8216	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	LZTR1	8216	HP:0000347	Micrognathia
OMIM:163950	LZTR1	8216	HP:0000914	Shield chest
OMIM:163950	LZTR1	8216	HP:0000689	Dental malocclusion
OMIM:163950	A2ML1	144568	HP:0000465	Webbed neck
OMIM:163950	A2ML1	144568	HP:0008897	Postnatal growth retardation
OMIM:163950	A2ML1	144568	HP:0000508	Ptosis
OMIM:163950	A2ML1	144568	HP:0030084	Clinodactyly
OMIM:163950	A2ML1	144568	HP:0000028	Cryptorchidism
OMIM:163950	A2ML1	144568	HP:0001249	Intellectual disability
OMIM:163950	A2ML1	144568	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	A2ML1	144568	HP:0002751	Kyphoscoliosis
OMIM:163950	A2ML1	144568	HP:0000917	Superior pectus carinatum
OMIM:163950	A2ML1	144568	HP:0001892	Abnormal bleeding
OMIM:163950	A2ML1	144568	HP:0001643	Patent ductus arteriosus
OMIM:163950	A2ML1	144568	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	A2ML1	144568	HP:0000407	Sensorineural hearing impairment
OMIM:163950	A2ML1	144568	HP:0004322	Short stature
OMIM:163950	A2ML1	144568	HP:0000545	Myopia
OMIM:163950	A2ML1	144568	HP:0000286	Epicanthus
OMIM:163950	A2ML1	144568	HP:0004841	Reduced factor XII activity
OMIM:163950	A2ML1	144568	HP:0009466	Radial deviation of finger
OMIM:163950	A2ML1	144568	HP:0000135	Hypogonadism
OMIM:163950	A2ML1	144568	HP:0001156	Brachydactyly syndrome
OMIM:163950	A2ML1	144568	HP:0001629	Ventricular septal defect
OMIM:163950	A2ML1	144568	HP:0100697	Neurofibrosarcoma
OMIM:163950	A2ML1	144568	HP:0000316	Hypertelorism
OMIM:163950	A2ML1	144568	HP:0000470	Short neck
OMIM:163950	A2ML1	144568	HP:0000006	Autosomal dominant inheritance
OMIM:163950	A2ML1	144568	HP:0000218	High palate
OMIM:163950	A2ML1	144568	HP:0000476	Cystic hygroma
OMIM:163950	A2ML1	144568	HP:0001425	Heterogeneous
OMIM:163950	A2ML1	144568	HP:0008357	Reduced factor XIII activity
OMIM:163950	A2ML1	144568	HP:0001631	Atria septal defect
OMIM:163950	A2ML1	144568	HP:0003251	Male infertility
OMIM:163950	A2ML1	144568	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	A2ML1	144568	HP:0000325	Triangular face
OMIM:163950	A2ML1	144568	HP:0100769	Synovitis
OMIM:163950	A2ML1	144568	HP:0001004	Lymphedema
OMIM:163950	A2ML1	144568	HP:0002967	Cubitus valgus
OMIM:163950	A2ML1	144568	HP:0001680	Coarctation of aorta
OMIM:163950	A2ML1	144568	HP:0002162	Low posterior hairline
OMIM:163950	A2ML1	144568	HP:0000494	Downslanted palpebral fissures
OMIM:163950	A2ML1	144568	HP:0001531	Failure to thrive in infancy
OMIM:163950	A2ML1	144568	HP:0001642	Pulmonic stenosis
OMIM:163950	A2ML1	144568	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	A2ML1	144568	HP:0000347	Micrognathia
OMIM:163950	A2ML1	144568	HP:0000914	Shield chest
OMIM:163950	A2ML1	144568	HP:0000689	Dental malocclusion
OMIM:163950	NRAS	4893	HP:0000465	Webbed neck
OMIM:163950	NRAS	4893	HP:0008897	Postnatal growth retardation
OMIM:163950	NRAS	4893	HP:0000508	Ptosis
OMIM:163950	NRAS	4893	HP:0030084	Clinodactyly
OMIM:163950	NRAS	4893	HP:0000028	Cryptorchidism
OMIM:163950	NRAS	4893	HP:0001249	Intellectual disability
OMIM:163950	NRAS	4893	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	NRAS	4893	HP:0002751	Kyphoscoliosis
OMIM:163950	NRAS	4893	HP:0000917	Superior pectus carinatum
OMIM:163950	NRAS	4893	HP:0001892	Abnormal bleeding
OMIM:163950	NRAS	4893	HP:0001643	Patent ductus arteriosus
OMIM:163950	NRAS	4893	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	NRAS	4893	HP:0000407	Sensorineural hearing impairment
OMIM:163950	NRAS	4893	HP:0004322	Short stature
OMIM:163950	NRAS	4893	HP:0000545	Myopia
OMIM:163950	NRAS	4893	HP:0000286	Epicanthus
OMIM:163950	NRAS	4893	HP:0004841	Reduced factor XII activity
OMIM:163950	NRAS	4893	HP:0009466	Radial deviation of finger
OMIM:163950	NRAS	4893	HP:0000135	Hypogonadism
OMIM:163950	NRAS	4893	HP:0001156	Brachydactyly syndrome
OMIM:163950	NRAS	4893	HP:0001629	Ventricular septal defect
OMIM:163950	NRAS	4893	HP:0100697	Neurofibrosarcoma
OMIM:163950	NRAS	4893	HP:0000316	Hypertelorism
OMIM:163950	NRAS	4893	HP:0000470	Short neck
OMIM:163950	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:163950	NRAS	4893	HP:0000218	High palate
OMIM:163950	NRAS	4893	HP:0000476	Cystic hygroma
OMIM:163950	NRAS	4893	HP:0001425	Heterogeneous
OMIM:163950	NRAS	4893	HP:0008357	Reduced factor XIII activity
OMIM:163950	NRAS	4893	HP:0001631	Atria septal defect
OMIM:163950	NRAS	4893	HP:0003251	Male infertility
OMIM:163950	NRAS	4893	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	NRAS	4893	HP:0000325	Triangular face
OMIM:163950	NRAS	4893	HP:0100769	Synovitis
OMIM:163950	NRAS	4893	HP:0001004	Lymphedema
OMIM:163950	NRAS	4893	HP:0002967	Cubitus valgus
OMIM:163950	NRAS	4893	HP:0001680	Coarctation of aorta
OMIM:163950	NRAS	4893	HP:0002162	Low posterior hairline
OMIM:163950	NRAS	4893	HP:0000494	Downslanted palpebral fissures
OMIM:163950	NRAS	4893	HP:0001531	Failure to thrive in infancy
OMIM:163950	NRAS	4893	HP:0001642	Pulmonic stenosis
OMIM:163950	NRAS	4893	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	NRAS	4893	HP:0000347	Micrognathia
OMIM:163950	NRAS	4893	HP:0000914	Shield chest
OMIM:163950	NRAS	4893	HP:0000689	Dental malocclusion
OMIM:163950	SOS1	6654	HP:0000465	Webbed neck
OMIM:163950	SOS1	6654	HP:0008897	Postnatal growth retardation
OMIM:163950	SOS1	6654	HP:0000508	Ptosis
OMIM:163950	SOS1	6654	HP:0030084	Clinodactyly
OMIM:163950	SOS1	6654	HP:0000028	Cryptorchidism
OMIM:163950	SOS1	6654	HP:0001249	Intellectual disability
OMIM:163950	SOS1	6654	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	SOS1	6654	HP:0002751	Kyphoscoliosis
OMIM:163950	SOS1	6654	HP:0000917	Superior pectus carinatum
OMIM:163950	SOS1	6654	HP:0001892	Abnormal bleeding
OMIM:163950	SOS1	6654	HP:0001643	Patent ductus arteriosus
OMIM:163950	SOS1	6654	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	SOS1	6654	HP:0000407	Sensorineural hearing impairment
OMIM:163950	SOS1	6654	HP:0004322	Short stature
OMIM:163950	SOS1	6654	HP:0000545	Myopia
OMIM:163950	SOS1	6654	HP:0000286	Epicanthus
OMIM:163950	SOS1	6654	HP:0004841	Reduced factor XII activity
OMIM:163950	SOS1	6654	HP:0009466	Radial deviation of finger
OMIM:163950	SOS1	6654	HP:0000135	Hypogonadism
OMIM:163950	SOS1	6654	HP:0001156	Brachydactyly syndrome
OMIM:163950	SOS1	6654	HP:0001629	Ventricular septal defect
OMIM:163950	SOS1	6654	HP:0100697	Neurofibrosarcoma
OMIM:163950	SOS1	6654	HP:0000316	Hypertelorism
OMIM:163950	SOS1	6654	HP:0000470	Short neck
OMIM:163950	SOS1	6654	HP:0000006	Autosomal dominant inheritance
OMIM:163950	SOS1	6654	HP:0000218	High palate
OMIM:163950	SOS1	6654	HP:0000476	Cystic hygroma
OMIM:163950	SOS1	6654	HP:0001425	Heterogeneous
OMIM:163950	SOS1	6654	HP:0008357	Reduced factor XIII activity
OMIM:163950	SOS1	6654	HP:0001631	Atria septal defect
OMIM:163950	SOS1	6654	HP:0003251	Male infertility
OMIM:163950	SOS1	6654	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	SOS1	6654	HP:0000325	Triangular face
OMIM:163950	SOS1	6654	HP:0100769	Synovitis
OMIM:163950	SOS1	6654	HP:0001004	Lymphedema
OMIM:163950	SOS1	6654	HP:0002967	Cubitus valgus
OMIM:163950	SOS1	6654	HP:0001680	Coarctation of aorta
OMIM:163950	SOS1	6654	HP:0002162	Low posterior hairline
OMIM:163950	SOS1	6654	HP:0000494	Downslanted palpebral fissures
OMIM:163950	SOS1	6654	HP:0001531	Failure to thrive in infancy
OMIM:163950	SOS1	6654	HP:0001642	Pulmonic stenosis
OMIM:163950	SOS1	6654	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	SOS1	6654	HP:0000347	Micrognathia
OMIM:163950	SOS1	6654	HP:0000914	Shield chest
OMIM:163950	SOS1	6654	HP:0000689	Dental malocclusion
OMIM:163950	SOS2	6655	HP:0000465	Webbed neck
OMIM:163950	SOS2	6655	HP:0008897	Postnatal growth retardation
OMIM:163950	SOS2	6655	HP:0000508	Ptosis
OMIM:163950	SOS2	6655	HP:0030084	Clinodactyly
OMIM:163950	SOS2	6655	HP:0000028	Cryptorchidism
OMIM:163950	SOS2	6655	HP:0001249	Intellectual disability
OMIM:163950	SOS2	6655	HP:0001639	Hypertrophic cardiomyopathy
OMIM:163950	SOS2	6655	HP:0002751	Kyphoscoliosis
OMIM:163950	SOS2	6655	HP:0000917	Superior pectus carinatum
OMIM:163950	SOS2	6655	HP:0001892	Abnormal bleeding
OMIM:163950	SOS2	6655	HP:0001643	Patent ductus arteriosus
OMIM:163950	SOS2	6655	HP:0000915	Pectus excavatum of inferior sternum
OMIM:163950	SOS2	6655	HP:0000407	Sensorineural hearing impairment
OMIM:163950	SOS2	6655	HP:0004322	Short stature
OMIM:163950	SOS2	6655	HP:0000545	Myopia
OMIM:163950	SOS2	6655	HP:0000286	Epicanthus
OMIM:163950	SOS2	6655	HP:0004841	Reduced factor XII activity
OMIM:163950	SOS2	6655	HP:0009466	Radial deviation of finger
OMIM:163950	SOS2	6655	HP:0000135	Hypogonadism
OMIM:163950	SOS2	6655	HP:0001156	Brachydactyly syndrome
OMIM:163950	SOS2	6655	HP:0001629	Ventricular septal defect
OMIM:163950	SOS2	6655	HP:0100697	Neurofibrosarcoma
OMIM:163950	SOS2	6655	HP:0000316	Hypertelorism
OMIM:163950	SOS2	6655	HP:0000470	Short neck
OMIM:163950	SOS2	6655	HP:0000006	Autosomal dominant inheritance
OMIM:163950	SOS2	6655	HP:0000218	High palate
OMIM:163950	SOS2	6655	HP:0000476	Cystic hygroma
OMIM:163950	SOS2	6655	HP:0001425	Heterogeneous
OMIM:163950	SOS2	6655	HP:0008357	Reduced factor XIII activity
OMIM:163950	SOS2	6655	HP:0001631	Atria septal defect
OMIM:163950	SOS2	6655	HP:0003251	Male infertility
OMIM:163950	SOS2	6655	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:163950	SOS2	6655	HP:0000325	Triangular face
OMIM:163950	SOS2	6655	HP:0100769	Synovitis
OMIM:163950	SOS2	6655	HP:0001004	Lymphedema
OMIM:163950	SOS2	6655	HP:0002967	Cubitus valgus
OMIM:163950	SOS2	6655	HP:0001680	Coarctation of aorta
OMIM:163950	SOS2	6655	HP:0002162	Low posterior hairline
OMIM:163950	SOS2	6655	HP:0000494	Downslanted palpebral fissures
OMIM:163950	SOS2	6655	HP:0001531	Failure to thrive in infancy
OMIM:163950	SOS2	6655	HP:0001642	Pulmonic stenosis
OMIM:163950	SOS2	6655	HP:0000368	Low-set, posteriorly rotated ears
OMIM:163950	SOS2	6655	HP:0000347	Micrognathia
OMIM:163950	SOS2	6655	HP:0000914	Shield chest
OMIM:163950	SOS2	6655	HP:0000689	Dental malocclusion
OMIM:616313	MUSK	4593	HP:0000276	Long face
OMIM:616313	MUSK	4593	HP:0003202	Skeletal muscle atrophy
OMIM:616313	MUSK	4593	HP:0000602	Ophthalmoplegia
OMIM:616313	MUSK	4593	HP:0000275	Narrow face
OMIM:616313	MUSK	4593	HP:0001252	Muscular hypotonia
OMIM:616313	MUSK	4593	HP:0000508	Ptosis
OMIM:616313	MUSK	4593	HP:0000218	High palate
OMIM:616313	MUSK	4593	HP:0010628	Facial palsy
OMIM:616313	MUSK	4593	HP:0001371	Flexion contracture
OMIM:616313	CHRNB1	1140	HP:0000276	Long face
OMIM:616313	CHRNB1	1140	HP:0003202	Skeletal muscle atrophy
OMIM:616313	CHRNB1	1140	HP:0000602	Ophthalmoplegia
OMIM:616313	CHRNB1	1140	HP:0000275	Narrow face
OMIM:616313	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:616313	CHRNB1	1140	HP:0000508	Ptosis
OMIM:616313	CHRNB1	1140	HP:0000218	High palate
OMIM:616313	CHRNB1	1140	HP:0010628	Facial palsy
OMIM:616313	CHRNB1	1140	HP:0001371	Flexion contracture
OMIM:616313	DOK7	285489	HP:0000276	Long face
OMIM:616313	DOK7	285489	HP:0003202	Skeletal muscle atrophy
OMIM:616313	DOK7	285489	HP:0000602	Ophthalmoplegia
OMIM:616313	DOK7	285489	HP:0000275	Narrow face
OMIM:616313	DOK7	285489	HP:0001252	Muscular hypotonia
OMIM:616313	DOK7	285489	HP:0000508	Ptosis
OMIM:616313	DOK7	285489	HP:0000218	High palate
OMIM:616313	DOK7	285489	HP:0010628	Facial palsy
OMIM:616313	DOK7	285489	HP:0001371	Flexion contracture
OMIM:616313	LRP4	4038	HP:0000276	Long face
OMIM:616313	LRP4	4038	HP:0003202	Skeletal muscle atrophy
OMIM:616313	LRP4	4038	HP:0000602	Ophthalmoplegia
OMIM:616313	LRP4	4038	HP:0000275	Narrow face
OMIM:616313	LRP4	4038	HP:0001252	Muscular hypotonia
OMIM:616313	LRP4	4038	HP:0000508	Ptosis
OMIM:616313	LRP4	4038	HP:0000218	High palate
OMIM:616313	LRP4	4038	HP:0010628	Facial palsy
OMIM:616313	LRP4	4038	HP:0001371	Flexion contracture
OMIM:616313	CHRND	1144	HP:0000276	Long face
OMIM:616313	CHRND	1144	HP:0003202	Skeletal muscle atrophy
OMIM:616313	CHRND	1144	HP:0000602	Ophthalmoplegia
OMIM:616313	CHRND	1144	HP:0000275	Narrow face
OMIM:616313	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:616313	CHRND	1144	HP:0000508	Ptosis
OMIM:616313	CHRND	1144	HP:0000218	High palate
OMIM:616313	CHRND	1144	HP:0010628	Facial palsy
OMIM:616313	CHRND	1144	HP:0001371	Flexion contracture
OMIM:616313	RAPSN	5913	HP:0000276	Long face
OMIM:616313	RAPSN	5913	HP:0003202	Skeletal muscle atrophy
OMIM:616313	RAPSN	5913	HP:0000602	Ophthalmoplegia
OMIM:616313	RAPSN	5913	HP:0000275	Narrow face
OMIM:616313	RAPSN	5913	HP:0001252	Muscular hypotonia
OMIM:616313	RAPSN	5913	HP:0000508	Ptosis
OMIM:616313	RAPSN	5913	HP:0000218	High palate
OMIM:616313	RAPSN	5913	HP:0010628	Facial palsy
OMIM:616313	RAPSN	5913	HP:0001371	Flexion contracture
OMIM:616313	SCN4A	6329	HP:0000276	Long face
OMIM:616313	SCN4A	6329	HP:0003202	Skeletal muscle atrophy
OMIM:616313	SCN4A	6329	HP:0000602	Ophthalmoplegia
OMIM:616313	SCN4A	6329	HP:0000275	Narrow face
OMIM:616313	SCN4A	6329	HP:0001252	Muscular hypotonia
OMIM:616313	SCN4A	6329	HP:0000508	Ptosis
OMIM:616313	SCN4A	6329	HP:0000218	High palate
OMIM:616313	SCN4A	6329	HP:0010628	Facial palsy
OMIM:616313	SCN4A	6329	HP:0001371	Flexion contracture
OMIM:616313	CHRNE	1145	HP:0000276	Long face
OMIM:616313	CHRNE	1145	HP:0003202	Skeletal muscle atrophy
OMIM:616313	CHRNE	1145	HP:0000602	Ophthalmoplegia
OMIM:616313	CHRNE	1145	HP:0000275	Narrow face
OMIM:616313	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:616313	CHRNE	1145	HP:0000508	Ptosis
OMIM:616313	CHRNE	1145	HP:0000218	High palate
OMIM:616313	CHRNE	1145	HP:0010628	Facial palsy
OMIM:616313	CHRNE	1145	HP:0001371	Flexion contracture
OMIM:616313	AGRN	375790	HP:0000276	Long face
OMIM:616313	AGRN	375790	HP:0003202	Skeletal muscle atrophy
OMIM:616313	AGRN	375790	HP:0000602	Ophthalmoplegia
OMIM:616313	AGRN	375790	HP:0000275	Narrow face
OMIM:616313	AGRN	375790	HP:0001252	Muscular hypotonia
OMIM:616313	AGRN	375790	HP:0000508	Ptosis
OMIM:616313	AGRN	375790	HP:0000218	High palate
OMIM:616313	AGRN	375790	HP:0010628	Facial palsy
OMIM:616313	AGRN	375790	HP:0001371	Flexion contracture
OMIM:616313	CHRNA1	1134	HP:0000276	Long face
OMIM:616313	CHRNA1	1134	HP:0003202	Skeletal muscle atrophy
OMIM:616313	CHRNA1	1134	HP:0000602	Ophthalmoplegia
OMIM:616313	CHRNA1	1134	HP:0000275	Narrow face
OMIM:616313	CHRNA1	1134	HP:0001252	Muscular hypotonia
OMIM:616313	CHRNA1	1134	HP:0000508	Ptosis
OMIM:616313	CHRNA1	1134	HP:0000218	High palate
OMIM:616313	CHRNA1	1134	HP:0010628	Facial palsy
OMIM:616313	CHRNA1	1134	HP:0001371	Flexion contracture
OMIM:271400	RPSA	3921	HP:0003593	Infantile onset
OMIM:271400	RPSA	3921	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:271400	RPSA	3921	HP:0001894	Thrombocytosis
OMIM:271400	RPSA	3921	HP:0000006	Autosomal dominant inheritance
OMIM:271400	RPSA	3921	HP:0000007	Autosomal recessive inheritance
OMIM:271400	NKX2-5	1482	HP:0003593	Infantile onset
OMIM:271400	NKX2-5	1482	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:271400	NKX2-5	1482	HP:0001894	Thrombocytosis
OMIM:271400	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:271400	NKX2-5	1482	HP:0000007	Autosomal recessive inheritance
OMIM:244460	TBCE	6905	HP:0000007	Autosomal recessive inheritance
OMIM:244460	TBCE	6905	HP:0002750	Delayed skeletal maturation
OMIM:244460	TBCE	6905	HP:0002718	Recurrent bacterial infections
OMIM:244460	TBCE	6905	HP:0001773	Short foot
OMIM:244460	TBCE	6905	HP:0002901	Hypocalcemia
OMIM:244460	TBCE	6905	HP:0004279	Short palm
OMIM:244460	TBCE	6905	HP:0003100	Slender long bone
OMIM:244460	TBCE	6905	HP:0000670	Carious teeth
OMIM:244460	TBCE	6905	HP:0001250	Seizures
OMIM:244460	TBCE	6905	HP:0001281	Tetany
OMIM:244460	TBCE	6905	HP:0001903	Anemia
OMIM:244460	TBCE	6905	HP:0003508	Proportionate short stature
OMIM:244460	TBCE	6905	HP:0000316	Hypertelorism
OMIM:244460	TBCE	6905	HP:0200055	Small hand
OMIM:244460	TBCE	6905	HP:0001511	Intrauterine growth retardation
OMIM:244460	TBCE	6905	HP:0004331	Decreased skull ossification
OMIM:600858	PRKAG2	51422	HP:0001639	Hypertrophic cardiomyopathy
OMIM:600858	PRKAG2	51422	HP:0011713	Left bundle branch block
OMIM:600858	PRKAG2	51422	HP:0001678	Atrioventricular block
OMIM:600858	PRKAG2	51422	HP:0000006	Autosomal dominant inheritance
OMIM:600858	PRKAG2	51422	HP:0001670	Asymmetric septal hypertrophy
OMIM:600858	PRKAG2	51422	HP:0005110	Atrial fibrillation
OMIM:600858	PRKAG2	51422	HP:0001688	Sinus bradycardia
OMIM:258480	INPPL1	3636	HP:0001744	Splenomegaly
OMIM:258480	INPPL1	3636	HP:0003196	Short nose
OMIM:258480	INPPL1	3636	HP:0000343	Long philtrum
OMIM:258480	INPPL1	3636	HP:0000944	Abnormality of the metaphyses
OMIM:258480	INPPL1	3636	HP:0008873	Disproportionate short-limb short stature
OMIM:258480	INPPL1	3636	HP:0002205	Recurrent respiratory infections
OMIM:258480	INPPL1	3636	HP:0009826	Limb undergrowth
OMIM:258480	INPPL1	3636	HP:0000774	Narrow chest
OMIM:258480	INPPL1	3636	HP:0001252	Muscular hypotonia
OMIM:258480	INPPL1	3636	HP:0000969	Edema
OMIM:258480	INPPL1	3636	HP:0000316	Hypertelorism
OMIM:258480	INPPL1	3636	HP:0005930	Abnormality of epiphysis morphology
OMIM:258480	INPPL1	3636	HP:0003175	Hypoplastic ischia
OMIM:258480	INPPL1	3636	HP:0000463	Anteverted nares
OMIM:258480	INPPL1	3636	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:258480	INPPL1	3636	HP:0001538	Protuberant abdomen
OMIM:258480	INPPL1	3636	HP:0000767	Pectus excavatum
OMIM:258480	INPPL1	3636	HP:0000239	Large fontanelles
OMIM:258480	INPPL1	3636	HP:0002750	Delayed skeletal maturation
OMIM:258480	INPPL1	3636	HP:0004565	Severe platyspondyly
OMIM:258480	INPPL1	3636	HP:0003312	Abnormal form of the vertebral bodies
OMIM:258480	INPPL1	3636	HP:0001561	Polyhydramnios
OMIM:258480	INPPL1	3636	HP:0005280	Depressed nasal bridge
OMIM:258480	INPPL1	3636	HP:0000256	Macrocephaly
OMIM:258480	INPPL1	3636	HP:0001156	Brachydactyly syndrome
OMIM:258480	INPPL1	3636	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:258480	INPPL1	3636	HP:0009602	Abnormality of thumb phalanx
OMIM:258480	INPPL1	3636	HP:0002240	Hepatomegaly
OMIM:258480	INPPL1	3636	HP:0001773	Short foot
OMIM:258480	INPPL1	3636	HP:0003173	Hypoplastic pubic bone
OMIM:258480	INPPL1	3636	HP:0000007	Autosomal recessive inheritance
OMIM:258480	INPPL1	3636	HP:0002093	Respiratory insufficiency
OMIM:258480	INPPL1	3636	HP:0003021	Metaphyseal cupping
OMIM:258480	INPPL1	3636	HP:0002007	Frontal bossing
OMIM:258480	INPPL1	3636	HP:0008905	Rhizomelia
OMIM:258480	INPPL1	3636	HP:0100569	Abnormal vertebral ossification
OMIM:258480	INPPL1	3636	HP:0000470	Short neck
OMIM:258480	INPPL1	3636	HP:0001376	Limitation of joint mobility
OMIM:258480	INPPL1	3636	HP:0002148	Hypophosphatemia
OMIM:258480	INPPL1	3636	HP:0004279	Short palm
OMIM:258480	INPPL1	3636	HP:0003177	Squared iliac bones
OMIM:258480	INPPL1	3636	HP:0000592	Blue sclerae
OMIM:258480	INPPL1	3636	HP:0001182	Tapered finger
OMIM:258480	INPPL1	3636	HP:0003026	Short long bone
OMIM:258480	INPPL1	3636	HP:0001591	Bell-shaped thorax
OMIM:608093	DPAGT1	1798	HP:0100543	Cognitive impairment
OMIM:608093	DPAGT1	1798	HP:0000718	Aggressive behavior
OMIM:608093	DPAGT1	1798	HP:0000639	Nystagmus
OMIM:608093	DPAGT1	1798	HP:0000028	Cryptorchidism
OMIM:608093	DPAGT1	1798	HP:0000252	Microcephaly
OMIM:608093	DPAGT1	1798	HP:0001250	Seizures
OMIM:608093	DPAGT1	1798	HP:0001371	Flexion contracture
OMIM:608093	DPAGT1	1798	HP:0004209	Clinodactyly of the 5th finger
OMIM:608093	DPAGT1	1798	HP:0002104	Apnea
OMIM:608093	DPAGT1	1798	HP:0003577	Congenital onset
OMIM:608093	DPAGT1	1798	HP:0010781	Skin dimples
OMIM:608093	DPAGT1	1798	HP:0000347	Micrognathia
OMIM:608093	DPAGT1	1798	HP:0001252	Muscular hypotonia
OMIM:608093	DPAGT1	1798	HP:0000007	Autosomal recessive inheritance
OMIM:608093	DPAGT1	1798	HP:0000577	Exotropia
OMIM:608093	DPAGT1	1798	HP:0003075	Hypoproteinemia
OMIM:608093	DPAGT1	1798	HP:0001347	Hyperreflexia
OMIM:608093	DPAGT1	1798	HP:0001263	Global developmental delay
OMIM:608093	DPAGT1	1798	HP:0000952	Jaundice
OMIM:608093	DPAGT1	1798	HP:0001337	Tremor
OMIM:608093	DPAGT1	1798	HP:0003828	Variable expressivity
OMIM:608093	DPAGT1	1798	HP:0000518	Cataract
OMIM:608093	DPAGT1	1798	HP:0002910	Elevated hepatic transaminases
OMIM:608093	DPAGT1	1798	HP:0002093	Respiratory insufficiency
OMIM:608093	DPAGT1	1798	HP:0000954	Single transverse palmar crease
OMIM:608093	DPAGT1	1798	HP:0001249	Intellectual disability
OMIM:300114	ZNF711	7552	HP:0001256	Intellectual disability, mild
OMIM:300114	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300114	IL1RAPL1	11141	HP:0001256	Intellectual disability, mild
OMIM:300114	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300114	ACSL4	2182	HP:0001256	Intellectual disability, mild
OMIM:300114	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300114	PAK3	5063	HP:0001256	Intellectual disability, mild
OMIM:300114	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300114	SYP	6855	HP:0001256	Intellectual disability, mild
OMIM:300114	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300114	FTSJ1	24140	HP:0001256	Intellectual disability, mild
OMIM:300114	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300114	DLG3	1741	HP:0001256	Intellectual disability, mild
OMIM:300114	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300114	PTCHD1	139411	HP:0001256	Intellectual disability, mild
OMIM:300114	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300114	UPF3B	65109	HP:0001256	Intellectual disability, mild
OMIM:300114	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300114	ZNF81	347344	HP:0001256	Intellectual disability, mild
OMIM:300114	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300114	RAB39B	116442	HP:0001256	Intellectual disability, mild
OMIM:300114	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300114	DMD	1756	HP:0001256	Intellectual disability, mild
OMIM:300114	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300114	MAGT1	84061	HP:0001256	Intellectual disability, mild
OMIM:300114	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300114	MID2	11043	HP:0001256	Intellectual disability, mild
OMIM:300114	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300114	GDI1	2664	HP:0001256	Intellectual disability, mild
OMIM:300114	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300114	ZNF41	7592	HP:0001256	Intellectual disability, mild
OMIM:300114	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300114	MECP2	4204	HP:0001256	Intellectual disability, mild
OMIM:300114	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300114	HCFC1	3054	HP:0001256	Intellectual disability, mild
OMIM:300114	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300114	USP9X	8239	HP:0001256	Intellectual disability, mild
OMIM:300114	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300114	MED12	9968	HP:0001256	Intellectual disability, mild
OMIM:300114	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300114	ZNF674	641339	HP:0001256	Intellectual disability, mild
OMIM:300114	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300114	ARHGEF6	9459	HP:0001256	Intellectual disability, mild
OMIM:300114	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300114	RPS6KA3	6197	HP:0001256	Intellectual disability, mild
OMIM:300114	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300114	IQSEC2	23096	HP:0001256	Intellectual disability, mild
OMIM:300114	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300114	AGTR2	186	HP:0001256	Intellectual disability, mild
OMIM:300114	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300114	ARX	170302	HP:0001256	Intellectual disability, mild
OMIM:300114	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300114	ALG13	79868	HP:0001256	Intellectual disability, mild
OMIM:300114	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300114	TSPAN7	7102	HP:0001256	Intellectual disability, mild
OMIM:300114	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:613855	CACNB4	785	HP:0000006	Autosomal dominant inheritance
OMIM:613855	CACNB4	785	HP:0002131	Episodic ataxia
OMIM:613855	CACNB4	785	HP:0000640	Gaze-evoked nystagmus
OMIM:613855	CACNB4	785	HP:0001260	Dysarthria
OMIM:614171	BLOC1S6	26258	HP:0000007	Autosomal recessive inheritance
OMIM:614171	BLOC1S6	26258	HP:0000639	Nystagmus
OMIM:614171	BLOC1S6	26258	HP:0007894	Hypopigmentation of the fundus
OMIM:614171	BLOC1S6	26258	HP:0001010	Hypopigmentation of the skin
OMIM:600151	MKKS	8195	HP:0000089	Renal hypoplasia
OMIM:600151	MKKS	8195	HP:0001249	Intellectual disability
OMIM:600151	MKKS	8195	HP:0001156	Brachydactyly syndrome
OMIM:600151	MKKS	8195	HP:0010442	Polydactyly
OMIM:600151	MKKS	8195	HP:0003241	External genital hypoplasia
OMIM:600151	MKKS	8195	HP:0005180	Tricuspid regurgitation
OMIM:600151	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:600151	MKKS	8195	HP:0001263	Global developmental delay
OMIM:600151	MKKS	8195	HP:0001513	Obesity
OMIM:600151	NPHP1	4867	HP:0000089	Renal hypoplasia
OMIM:600151	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:600151	NPHP1	4867	HP:0001156	Brachydactyly syndrome
OMIM:600151	NPHP1	4867	HP:0010442	Polydactyly
OMIM:600151	NPHP1	4867	HP:0003241	External genital hypoplasia
OMIM:600151	NPHP1	4867	HP:0005180	Tricuspid regurgitation
OMIM:600151	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:600151	NPHP1	4867	HP:0001263	Global developmental delay
OMIM:600151	NPHP1	4867	HP:0001513	Obesity
OMIM:600151	BBIP1	92482	HP:0000089	Renal hypoplasia
OMIM:600151	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:600151	BBIP1	92482	HP:0001156	Brachydactyly syndrome
OMIM:600151	BBIP1	92482	HP:0010442	Polydactyly
OMIM:600151	BBIP1	92482	HP:0003241	External genital hypoplasia
OMIM:600151	BBIP1	92482	HP:0005180	Tricuspid regurgitation
OMIM:600151	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:600151	BBIP1	92482	HP:0001263	Global developmental delay
OMIM:600151	BBIP1	92482	HP:0001513	Obesity
OMIM:600151	ARL6	84100	HP:0000089	Renal hypoplasia
OMIM:600151	ARL6	84100	HP:0001249	Intellectual disability
OMIM:600151	ARL6	84100	HP:0001156	Brachydactyly syndrome
OMIM:600151	ARL6	84100	HP:0010442	Polydactyly
OMIM:600151	ARL6	84100	HP:0003241	External genital hypoplasia
OMIM:600151	ARL6	84100	HP:0005180	Tricuspid regurgitation
OMIM:600151	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:600151	ARL6	84100	HP:0001263	Global developmental delay
OMIM:600151	ARL6	84100	HP:0001513	Obesity
OMIM:600151	BBS1	582	HP:0000089	Renal hypoplasia
OMIM:600151	BBS1	582	HP:0001249	Intellectual disability
OMIM:600151	BBS1	582	HP:0001156	Brachydactyly syndrome
OMIM:600151	BBS1	582	HP:0010442	Polydactyly
OMIM:600151	BBS1	582	HP:0003241	External genital hypoplasia
OMIM:600151	BBS1	582	HP:0005180	Tricuspid regurgitation
OMIM:600151	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:600151	BBS1	582	HP:0001263	Global developmental delay
OMIM:600151	BBS1	582	HP:0001513	Obesity
OMIM:600151	BBS2	583	HP:0000089	Renal hypoplasia
OMIM:600151	BBS2	583	HP:0001249	Intellectual disability
OMIM:600151	BBS2	583	HP:0001156	Brachydactyly syndrome
OMIM:600151	BBS2	583	HP:0010442	Polydactyly
OMIM:600151	BBS2	583	HP:0003241	External genital hypoplasia
OMIM:600151	BBS2	583	HP:0005180	Tricuspid regurgitation
OMIM:600151	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:600151	BBS2	583	HP:0001263	Global developmental delay
OMIM:600151	BBS2	583	HP:0001513	Obesity
OMIM:600151	BBS4	585	HP:0000089	Renal hypoplasia
OMIM:600151	BBS4	585	HP:0001249	Intellectual disability
OMIM:600151	BBS4	585	HP:0001156	Brachydactyly syndrome
OMIM:600151	BBS4	585	HP:0010442	Polydactyly
OMIM:600151	BBS4	585	HP:0003241	External genital hypoplasia
OMIM:600151	BBS4	585	HP:0005180	Tricuspid regurgitation
OMIM:600151	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:600151	BBS4	585	HP:0001263	Global developmental delay
OMIM:600151	BBS4	585	HP:0001513	Obesity
OMIM:600151	BBS9	27241	HP:0000089	Renal hypoplasia
OMIM:600151	BBS9	27241	HP:0001249	Intellectual disability
OMIM:600151	BBS9	27241	HP:0001156	Brachydactyly syndrome
OMIM:600151	BBS9	27241	HP:0010442	Polydactyly
OMIM:600151	BBS9	27241	HP:0003241	External genital hypoplasia
OMIM:600151	BBS9	27241	HP:0005180	Tricuspid regurgitation
OMIM:600151	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:600151	BBS9	27241	HP:0001263	Global developmental delay
OMIM:600151	BBS9	27241	HP:0001513	Obesity
OMIM:600151	TTC8	123016	HP:0000089	Renal hypoplasia
OMIM:600151	TTC8	123016	HP:0001249	Intellectual disability
OMIM:600151	TTC8	123016	HP:0001156	Brachydactyly syndrome
OMIM:600151	TTC8	123016	HP:0010442	Polydactyly
OMIM:600151	TTC8	123016	HP:0003241	External genital hypoplasia
OMIM:600151	TTC8	123016	HP:0005180	Tricuspid regurgitation
OMIM:600151	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:600151	TTC8	123016	HP:0001263	Global developmental delay
OMIM:600151	TTC8	123016	HP:0001513	Obesity
OMIM:600151	BBS12	166379	HP:0000089	Renal hypoplasia
OMIM:600151	BBS12	166379	HP:0001249	Intellectual disability
OMIM:600151	BBS12	166379	HP:0001156	Brachydactyly syndrome
OMIM:600151	BBS12	166379	HP:0010442	Polydactyly
OMIM:600151	BBS12	166379	HP:0003241	External genital hypoplasia
OMIM:600151	BBS12	166379	HP:0005180	Tricuspid regurgitation
OMIM:600151	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:600151	BBS12	166379	HP:0001263	Global developmental delay
OMIM:600151	BBS12	166379	HP:0001513	Obesity
OMIM:600151	TRIM32	22954	HP:0000089	Renal hypoplasia
OMIM:600151	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:600151	TRIM32	22954	HP:0001156	Brachydactyly syndrome
OMIM:600151	TRIM32	22954	HP:0010442	Polydactyly
OMIM:600151	TRIM32	22954	HP:0003241	External genital hypoplasia
OMIM:600151	TRIM32	22954	HP:0005180	Tricuspid regurgitation
OMIM:600151	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:600151	TRIM32	22954	HP:0001263	Global developmental delay
OMIM:600151	TRIM32	22954	HP:0001513	Obesity
OMIM:600151	BBS7	55212	HP:0000089	Renal hypoplasia
OMIM:600151	BBS7	55212	HP:0001249	Intellectual disability
OMIM:600151	BBS7	55212	HP:0001156	Brachydactyly syndrome
OMIM:600151	BBS7	55212	HP:0010442	Polydactyly
OMIM:600151	BBS7	55212	HP:0003241	External genital hypoplasia
OMIM:600151	BBS7	55212	HP:0005180	Tricuspid regurgitation
OMIM:600151	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:600151	BBS7	55212	HP:0001263	Global developmental delay
OMIM:600151	BBS7	55212	HP:0001513	Obesity
OMIM:600151	IFT27	11020	HP:0000089	Renal hypoplasia
OMIM:600151	IFT27	11020	HP:0001249	Intellectual disability
OMIM:600151	IFT27	11020	HP:0001156	Brachydactyly syndrome
OMIM:600151	IFT27	11020	HP:0010442	Polydactyly
OMIM:600151	IFT27	11020	HP:0003241	External genital hypoplasia
OMIM:600151	IFT27	11020	HP:0005180	Tricuspid regurgitation
OMIM:600151	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:600151	IFT27	11020	HP:0001263	Global developmental delay
OMIM:600151	IFT27	11020	HP:0001513	Obesity
OMIM:600151	IFT172	26160	HP:0000089	Renal hypoplasia
OMIM:600151	IFT172	26160	HP:0001249	Intellectual disability
OMIM:600151	IFT172	26160	HP:0001156	Brachydactyly syndrome
OMIM:600151	IFT172	26160	HP:0010442	Polydactyly
OMIM:600151	IFT172	26160	HP:0003241	External genital hypoplasia
OMIM:600151	IFT172	26160	HP:0005180	Tricuspid regurgitation
OMIM:600151	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:600151	IFT172	26160	HP:0001263	Global developmental delay
OMIM:600151	IFT172	26160	HP:0001513	Obesity
OMIM:600151	WDPCP	51057	HP:0000089	Renal hypoplasia
OMIM:600151	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:600151	WDPCP	51057	HP:0001156	Brachydactyly syndrome
OMIM:600151	WDPCP	51057	HP:0010442	Polydactyly
OMIM:600151	WDPCP	51057	HP:0003241	External genital hypoplasia
OMIM:600151	WDPCP	51057	HP:0005180	Tricuspid regurgitation
OMIM:600151	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:600151	WDPCP	51057	HP:0001263	Global developmental delay
OMIM:600151	WDPCP	51057	HP:0001513	Obesity
OMIM:600151	SDCCAG8	10806	HP:0000089	Renal hypoplasia
OMIM:600151	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:600151	SDCCAG8	10806	HP:0001156	Brachydactyly syndrome
OMIM:600151	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:600151	SDCCAG8	10806	HP:0003241	External genital hypoplasia
OMIM:600151	SDCCAG8	10806	HP:0005180	Tricuspid regurgitation
OMIM:600151	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:600151	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:600151	SDCCAG8	10806	HP:0001513	Obesity
OMIM:600151	MKS1	54903	HP:0000089	Renal hypoplasia
OMIM:600151	MKS1	54903	HP:0001249	Intellectual disability
OMIM:600151	MKS1	54903	HP:0001156	Brachydactyly syndrome
OMIM:600151	MKS1	54903	HP:0010442	Polydactyly
OMIM:600151	MKS1	54903	HP:0003241	External genital hypoplasia
OMIM:600151	MKS1	54903	HP:0005180	Tricuspid regurgitation
OMIM:600151	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:600151	MKS1	54903	HP:0001263	Global developmental delay
OMIM:600151	MKS1	54903	HP:0001513	Obesity
OMIM:600151	BBS5	129880	HP:0000089	Renal hypoplasia
OMIM:600151	BBS5	129880	HP:0001249	Intellectual disability
OMIM:600151	BBS5	129880	HP:0001156	Brachydactyly syndrome
OMIM:600151	BBS5	129880	HP:0010442	Polydactyly
OMIM:600151	BBS5	129880	HP:0003241	External genital hypoplasia
OMIM:600151	BBS5	129880	HP:0005180	Tricuspid regurgitation
OMIM:600151	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:600151	BBS5	129880	HP:0001263	Global developmental delay
OMIM:600151	BBS5	129880	HP:0001513	Obesity
OMIM:600151	CEP290	80184	HP:0000089	Renal hypoplasia
OMIM:600151	CEP290	80184	HP:0001249	Intellectual disability
OMIM:600151	CEP290	80184	HP:0001156	Brachydactyly syndrome
OMIM:600151	CEP290	80184	HP:0010442	Polydactyly
OMIM:600151	CEP290	80184	HP:0003241	External genital hypoplasia
OMIM:600151	CEP290	80184	HP:0005180	Tricuspid regurgitation
OMIM:600151	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:600151	CEP290	80184	HP:0001263	Global developmental delay
OMIM:600151	CEP290	80184	HP:0001513	Obesity
OMIM:600151	LZTFL1	54585	HP:0000089	Renal hypoplasia
OMIM:600151	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:600151	LZTFL1	54585	HP:0001156	Brachydactyly syndrome
OMIM:600151	LZTFL1	54585	HP:0010442	Polydactyly
OMIM:600151	LZTFL1	54585	HP:0003241	External genital hypoplasia
OMIM:600151	LZTFL1	54585	HP:0005180	Tricuspid regurgitation
OMIM:600151	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:600151	LZTFL1	54585	HP:0001263	Global developmental delay
OMIM:600151	LZTFL1	54585	HP:0001513	Obesity
OMIM:600151	BBS10	79738	HP:0000089	Renal hypoplasia
OMIM:600151	BBS10	79738	HP:0001249	Intellectual disability
OMIM:600151	BBS10	79738	HP:0001156	Brachydactyly syndrome
OMIM:600151	BBS10	79738	HP:0010442	Polydactyly
OMIM:600151	BBS10	79738	HP:0003241	External genital hypoplasia
OMIM:600151	BBS10	79738	HP:0005180	Tricuspid regurgitation
OMIM:600151	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:600151	BBS10	79738	HP:0001263	Global developmental delay
OMIM:600151	BBS10	79738	HP:0001513	Obesity
OMIM:614303	MIR184	406960	HP:0000483	Astigmatism
OMIM:614303	MIR184	406960	HP:0000505	Visual impairment
OMIM:614303	MIR184	406960	HP:0007663	Reduced visual acuity
OMIM:614303	MIR184	406960	HP:0000006	Autosomal dominant inheritance
OMIM:614303	MIR184	406960	HP:0000482	Microcornea
OMIM:615803	CLP1	10978	HP:0002120	Cerebral cortical atrophy
OMIM:615803	CLP1	10978	HP:0000565	Esotropia
OMIM:615803	CLP1	10978	HP:0000252	Microcephaly
OMIM:615803	CLP1	10978	HP:0002553	Highly arched eyebrow
OMIM:615803	CLP1	10978	HP:0001347	Hyperreflexia
OMIM:615803	CLP1	10978	HP:0001263	Global developmental delay
OMIM:615803	CLP1	10978	HP:0009879	Cortical gyral simplification
OMIM:615803	CLP1	10978	HP:0000430	Underdeveloped nasal alae
OMIM:615803	CLP1	10978	HP:0000639	Nystagmus
OMIM:615803	CLP1	10978	HP:0012448	Delayed myelination
OMIM:615803	CLP1	10978	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615803	CLP1	10978	HP:0001344	Absent speech
OMIM:615803	CLP1	10978	HP:0000520	Proptosis
OMIM:615803	CLP1	10978	HP:0000218	High palate
OMIM:615803	CLP1	10978	HP:0000431	Wide nasal bridge
OMIM:615803	CLP1	10978	HP:0001257	Spasticity
OMIM:615803	CLP1	10978	HP:0001510	Growth delay
OMIM:615803	CLP1	10978	HP:0003196	Short nose
OMIM:615803	CLP1	10978	HP:0000028	Cryptorchidism
OMIM:615803	CLP1	10978	HP:0000527	Long eyelashes
OMIM:615803	CLP1	10978	HP:0002119	Ventriculomegaly
OMIM:615803	CLP1	10978	HP:0001298	Encephalopathy
OMIM:615803	CLP1	10978	HP:0000219	Thin upper lip vermilion
OMIM:608654	NTRK1	4914	HP:0000007	Autosomal recessive inheritance
OMIM:608654	NTRK1	4914	HP:0001256	Intellectual disability, mild
OMIM:608654	NTRK1	4914	HP:0000970	Anhidrosis
OMIM:608654	NTRK1	4914	HP:0007021	Pain insensitivity
OMIM:608654	NTRK1	4914	HP:0000742	Self-mutilation
OMIM:608654	NTRK1	4914	HP:0002661	Painless fractures due to injury
OMIM:608654	NTRK1	4914	HP:0003593	Infantile onset
OMIM:608654	NGF	4803	HP:0000007	Autosomal recessive inheritance
OMIM:608654	NGF	4803	HP:0001256	Intellectual disability, mild
OMIM:608654	NGF	4803	HP:0000970	Anhidrosis
OMIM:608654	NGF	4803	HP:0007021	Pain insensitivity
OMIM:608654	NGF	4803	HP:0000742	Self-mutilation
OMIM:608654	NGF	4803	HP:0002661	Painless fractures due to injury
OMIM:608654	NGF	4803	HP:0003593	Infantile onset
OMIM:222400	GATA6	2627	HP:0000776	Congenital diaphragmatic hernia
OMIM:222400	ZFPM2	23414	HP:0000776	Congenital diaphragmatic hernia
OMIM:604121	DNMT1	1786	HP:0000709	Psychosis
OMIM:604121	DNMT1	1786	HP:0001347	Hyperreflexia
OMIM:604121	DNMT1	1786	HP:0002354	Memory impairment
OMIM:604121	DNMT1	1786	HP:0001257	Spasticity
OMIM:604121	DNMT1	1786	HP:0000648	Optic atrophy
OMIM:604121	DNMT1	1786	HP:0000726	Dementia
OMIM:604121	DNMT1	1786	HP:0002189	Excessive daytime sleepiness
OMIM:604121	DNMT1	1786	HP:0003676	Progressive
OMIM:604121	DNMT1	1786	HP:0000407	Sensorineural hearing impairment
OMIM:604121	DNMT1	1786	HP:0000006	Autosomal dominant inheritance
OMIM:604121	DNMT1	1786	HP:0001251	Ataxia
OMIM:604121	DNMT1	1786	HP:0001272	Cerebellar atrophy
OMIM:615043	C19ORF12	83636	HP:0006466	Ankle contracture
OMIM:615043	C19ORF12	83636	HP:0006380	Knee flexion contracture
OMIM:615043	C19ORF12	83636	HP:0000007	Autosomal recessive inheritance
OMIM:615043	C19ORF12	83636	HP:0003693	Distal amyotrophy
OMIM:615043	C19ORF12	83636	HP:0003828	Variable expressivity
OMIM:615043	C19ORF12	83636	HP:0001265	Hyporeflexia
OMIM:615043	C19ORF12	83636	HP:0001258	Spastic paraplegia
OMIM:615043	C19ORF12	83636	HP:0001260	Dysarthria
OMIM:615043	C19ORF12	83636	HP:0003487	Babinski sign
OMIM:615043	C19ORF12	83636	HP:0001347	Hyperreflexia
OMIM:615043	C19ORF12	83636	HP:0001761	Pes cavus
OMIM:615043	C19ORF12	83636	HP:0003677	Slow progression
OMIM:615043	C19ORF12	83636	HP:0001288	Gait disturbance
OMIM:615043	C19ORF12	83636	HP:0002936	Distal sensory impairment
OMIM:616214	INS	3630	HP:0003074	Hyperglycemia
OMIM:616214	INS	3630	HP:0000842	Hyperinsulinemia
OMIM:603194	B9D1	27077	HP:0001511	Intrauterine growth retardation
OMIM:603194	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:603194	B9D1	27077	HP:0006487	Bowing of the long bones
OMIM:603194	B9D1	27077	HP:0002084	Encephalocele
OMIM:603194	B9D1	27077	HP:0002323	Anencephaly
OMIM:603194	B9D1	27077	HP:0002435	Meningocele
OMIM:603194	B9D1	27077	HP:0010442	Polydactyly
OMIM:603194	B9D1	27077	HP:0000107	Renal cyst
OMIM:603194	B9D1	27077	HP:0000175	Cleft palate
OMIM:603194	B9D1	27077	HP:0001305	Dandy-Walker malformation
OMIM:603194	B9D1	27077	HP:0000568	Microphthalmia
OMIM:603194	B9D1	27077	HP:0001162	Postaxial hand polydactyly
OMIM:603194	B9D1	27077	HP:0001408	Bile duct proliferation
OMIM:603194	RPGRIP1	57096	HP:0001511	Intrauterine growth retardation
OMIM:603194	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:603194	RPGRIP1	57096	HP:0006487	Bowing of the long bones
OMIM:603194	RPGRIP1	57096	HP:0002084	Encephalocele
OMIM:603194	RPGRIP1	57096	HP:0002323	Anencephaly
OMIM:603194	RPGRIP1	57096	HP:0002435	Meningocele
OMIM:603194	RPGRIP1	57096	HP:0010442	Polydactyly
OMIM:603194	RPGRIP1	57096	HP:0000107	Renal cyst
OMIM:603194	RPGRIP1	57096	HP:0000175	Cleft palate
OMIM:603194	RPGRIP1	57096	HP:0001305	Dandy-Walker malformation
OMIM:603194	RPGRIP1	57096	HP:0000568	Microphthalmia
OMIM:603194	RPGRIP1	57096	HP:0001162	Postaxial hand polydactyly
OMIM:603194	RPGRIP1	57096	HP:0001408	Bile duct proliferation
OMIM:603194	CC2D2A	57545	HP:0001511	Intrauterine growth retardation
OMIM:603194	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:603194	CC2D2A	57545	HP:0006487	Bowing of the long bones
OMIM:603194	CC2D2A	57545	HP:0002084	Encephalocele
OMIM:603194	CC2D2A	57545	HP:0002323	Anencephaly
OMIM:603194	CC2D2A	57545	HP:0002435	Meningocele
OMIM:603194	CC2D2A	57545	HP:0010442	Polydactyly
OMIM:603194	CC2D2A	57545	HP:0000107	Renal cyst
OMIM:603194	CC2D2A	57545	HP:0000175	Cleft palate
OMIM:603194	CC2D2A	57545	HP:0001305	Dandy-Walker malformation
OMIM:603194	CC2D2A	57545	HP:0000568	Microphthalmia
OMIM:603194	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:603194	CC2D2A	57545	HP:0001408	Bile duct proliferation
OMIM:603194	B9D2	80776	HP:0001511	Intrauterine growth retardation
OMIM:603194	B9D2	80776	HP:0000007	Autosomal recessive inheritance
OMIM:603194	B9D2	80776	HP:0006487	Bowing of the long bones
OMIM:603194	B9D2	80776	HP:0002084	Encephalocele
OMIM:603194	B9D2	80776	HP:0002323	Anencephaly
OMIM:603194	B9D2	80776	HP:0002435	Meningocele
OMIM:603194	B9D2	80776	HP:0010442	Polydactyly
OMIM:603194	B9D2	80776	HP:0000107	Renal cyst
OMIM:603194	B9D2	80776	HP:0000175	Cleft palate
OMIM:603194	B9D2	80776	HP:0001305	Dandy-Walker malformation
OMIM:603194	B9D2	80776	HP:0000568	Microphthalmia
OMIM:603194	B9D2	80776	HP:0001162	Postaxial hand polydactyly
OMIM:603194	B9D2	80776	HP:0001408	Bile duct proliferation
OMIM:603194	CSPP1	79848	HP:0001511	Intrauterine growth retardation
OMIM:603194	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:603194	CSPP1	79848	HP:0006487	Bowing of the long bones
OMIM:603194	CSPP1	79848	HP:0002084	Encephalocele
OMIM:603194	CSPP1	79848	HP:0002323	Anencephaly
OMIM:603194	CSPP1	79848	HP:0002435	Meningocele
OMIM:603194	CSPP1	79848	HP:0010442	Polydactyly
OMIM:603194	CSPP1	79848	HP:0000107	Renal cyst
OMIM:603194	CSPP1	79848	HP:0000175	Cleft palate
OMIM:603194	CSPP1	79848	HP:0001305	Dandy-Walker malformation
OMIM:603194	CSPP1	79848	HP:0000568	Microphthalmia
OMIM:603194	CSPP1	79848	HP:0001162	Postaxial hand polydactyly
OMIM:603194	CSPP1	79848	HP:0001408	Bile duct proliferation
OMIM:603194	TMEM67	91147	HP:0001511	Intrauterine growth retardation
OMIM:603194	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:603194	TMEM67	91147	HP:0006487	Bowing of the long bones
OMIM:603194	TMEM67	91147	HP:0002084	Encephalocele
OMIM:603194	TMEM67	91147	HP:0002323	Anencephaly
OMIM:603194	TMEM67	91147	HP:0002435	Meningocele
OMIM:603194	TMEM67	91147	HP:0010442	Polydactyly
OMIM:603194	TMEM67	91147	HP:0000107	Renal cyst
OMIM:603194	TMEM67	91147	HP:0000175	Cleft palate
OMIM:603194	TMEM67	91147	HP:0001305	Dandy-Walker malformation
OMIM:603194	TMEM67	91147	HP:0000568	Microphthalmia
OMIM:603194	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
OMIM:603194	TMEM67	91147	HP:0001408	Bile duct proliferation
OMIM:603194	WDPCP	51057	HP:0001511	Intrauterine growth retardation
OMIM:603194	WDPCP	51057	HP:0000007	Autosomal recessive inheritance
OMIM:603194	WDPCP	51057	HP:0006487	Bowing of the long bones
OMIM:603194	WDPCP	51057	HP:0002084	Encephalocele
OMIM:603194	WDPCP	51057	HP:0002323	Anencephaly
OMIM:603194	WDPCP	51057	HP:0002435	Meningocele
OMIM:603194	WDPCP	51057	HP:0010442	Polydactyly
OMIM:603194	WDPCP	51057	HP:0000107	Renal cyst
OMIM:603194	WDPCP	51057	HP:0000175	Cleft palate
OMIM:603194	WDPCP	51057	HP:0001305	Dandy-Walker malformation
OMIM:603194	WDPCP	51057	HP:0000568	Microphthalmia
OMIM:603194	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
OMIM:603194	WDPCP	51057	HP:0001408	Bile duct proliferation
OMIM:603194	MKS1	54903	HP:0001511	Intrauterine growth retardation
OMIM:603194	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:603194	MKS1	54903	HP:0006487	Bowing of the long bones
OMIM:603194	MKS1	54903	HP:0002084	Encephalocele
OMIM:603194	MKS1	54903	HP:0002323	Anencephaly
OMIM:603194	MKS1	54903	HP:0002435	Meningocele
OMIM:603194	MKS1	54903	HP:0010442	Polydactyly
OMIM:603194	MKS1	54903	HP:0000107	Renal cyst
OMIM:603194	MKS1	54903	HP:0000175	Cleft palate
OMIM:603194	MKS1	54903	HP:0001305	Dandy-Walker malformation
OMIM:603194	MKS1	54903	HP:0000568	Microphthalmia
OMIM:603194	MKS1	54903	HP:0001162	Postaxial hand polydactyly
OMIM:603194	MKS1	54903	HP:0001408	Bile duct proliferation
OMIM:603194	CEP290	80184	HP:0001511	Intrauterine growth retardation
OMIM:603194	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:603194	CEP290	80184	HP:0006487	Bowing of the long bones
OMIM:603194	CEP290	80184	HP:0002084	Encephalocele
OMIM:603194	CEP290	80184	HP:0002323	Anencephaly
OMIM:603194	CEP290	80184	HP:0002435	Meningocele
OMIM:603194	CEP290	80184	HP:0010442	Polydactyly
OMIM:603194	CEP290	80184	HP:0000107	Renal cyst
OMIM:603194	CEP290	80184	HP:0000175	Cleft palate
OMIM:603194	CEP290	80184	HP:0001305	Dandy-Walker malformation
OMIM:603194	CEP290	80184	HP:0000568	Microphthalmia
OMIM:603194	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:603194	CEP290	80184	HP:0001408	Bile duct proliferation
OMIM:603194	RPGRIP1L	23322	HP:0001511	Intrauterine growth retardation
OMIM:603194	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:603194	RPGRIP1L	23322	HP:0006487	Bowing of the long bones
OMIM:603194	RPGRIP1L	23322	HP:0002084	Encephalocele
OMIM:603194	RPGRIP1L	23322	HP:0002323	Anencephaly
OMIM:603194	RPGRIP1L	23322	HP:0002435	Meningocele
OMIM:603194	RPGRIP1L	23322	HP:0010442	Polydactyly
OMIM:603194	RPGRIP1L	23322	HP:0000107	Renal cyst
OMIM:603194	RPGRIP1L	23322	HP:0000175	Cleft palate
OMIM:603194	RPGRIP1L	23322	HP:0001305	Dandy-Walker malformation
OMIM:603194	RPGRIP1L	23322	HP:0000568	Microphthalmia
OMIM:603194	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
OMIM:603194	RPGRIP1L	23322	HP:0001408	Bile duct proliferation
OMIM:603194	TCTN2	79867	HP:0001511	Intrauterine growth retardation
OMIM:603194	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:603194	TCTN2	79867	HP:0006487	Bowing of the long bones
OMIM:603194	TCTN2	79867	HP:0002084	Encephalocele
OMIM:603194	TCTN2	79867	HP:0002323	Anencephaly
OMIM:603194	TCTN2	79867	HP:0002435	Meningocele
OMIM:603194	TCTN2	79867	HP:0010442	Polydactyly
OMIM:603194	TCTN2	79867	HP:0000107	Renal cyst
OMIM:603194	TCTN2	79867	HP:0000175	Cleft palate
OMIM:603194	TCTN2	79867	HP:0001305	Dandy-Walker malformation
OMIM:603194	TCTN2	79867	HP:0000568	Microphthalmia
OMIM:603194	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
OMIM:603194	TCTN2	79867	HP:0001408	Bile duct proliferation
OMIM:603194	TMEM216	51259	HP:0001511	Intrauterine growth retardation
OMIM:603194	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:603194	TMEM216	51259	HP:0006487	Bowing of the long bones
OMIM:603194	TMEM216	51259	HP:0002084	Encephalocele
OMIM:603194	TMEM216	51259	HP:0002323	Anencephaly
OMIM:603194	TMEM216	51259	HP:0002435	Meningocele
OMIM:603194	TMEM216	51259	HP:0010442	Polydactyly
OMIM:603194	TMEM216	51259	HP:0000107	Renal cyst
OMIM:603194	TMEM216	51259	HP:0000175	Cleft palate
OMIM:603194	TMEM216	51259	HP:0001305	Dandy-Walker malformation
OMIM:603194	TMEM216	51259	HP:0000568	Microphthalmia
OMIM:603194	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:603194	TMEM216	51259	HP:0001408	Bile duct proliferation
OMIM:603194	TMEM231	79583	HP:0001511	Intrauterine growth retardation
OMIM:603194	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:603194	TMEM231	79583	HP:0006487	Bowing of the long bones
OMIM:603194	TMEM231	79583	HP:0002084	Encephalocele
OMIM:603194	TMEM231	79583	HP:0002323	Anencephaly
OMIM:603194	TMEM231	79583	HP:0002435	Meningocele
OMIM:603194	TMEM231	79583	HP:0010442	Polydactyly
OMIM:603194	TMEM231	79583	HP:0000107	Renal cyst
OMIM:603194	TMEM231	79583	HP:0000175	Cleft palate
OMIM:603194	TMEM231	79583	HP:0001305	Dandy-Walker malformation
OMIM:603194	TMEM231	79583	HP:0000568	Microphthalmia
OMIM:603194	TMEM231	79583	HP:0001162	Postaxial hand polydactyly
OMIM:603194	TMEM231	79583	HP:0001408	Bile duct proliferation
OMIM:186300	HOXD13	3239	HP:0001156	Brachydactyly syndrome
OMIM:186300	HOXD13	3239	HP:0009702	Carpal synostosis
OMIM:186300	HOXD13	3239	HP:0100490	Camptodactyly of finger
OMIM:186300	HOXD13	3239	HP:0009473	Joint contracture of the hand
OMIM:186300	HOXD13	3239	HP:0006101	Finger syndactyly
OMIM:186300	HOXD13	3239	HP:0004692	4-5 toe syndactyly
OMIM:186300	HOXD13	3239	HP:0004209	Clinodactyly of the 5th finger
OMIM:186300	HOXD13	3239	HP:0010554	Cutaneous finger syndactyly
OMIM:186300	HOXD13	3239	HP:0000006	Autosomal dominant inheritance
OMIM:186300	HOXD13	3239	HP:0001032	Absent distal interphalangeal creases
OMIM:186300	HOXD13	3239	HP:0009465	Ulnar deviation of finger
OMIM:186300	HOXD13	3239	HP:0009882	Short distal phalanx of finger
OMIM:609165	KRT10	3858	HP:0001217	Clubbing
OMIM:609165	KRT10	3858	HP:0001019	Erythroderma
OMIM:609165	KRT10	3858	HP:0000998	Hypertrichosis
OMIM:609165	KRT10	3858	HP:0000006	Autosomal dominant inheritance
OMIM:609165	KRT1	3848	HP:0001217	Clubbing
OMIM:609165	KRT1	3848	HP:0001019	Erythroderma
OMIM:609165	KRT1	3848	HP:0000998	Hypertrichosis
OMIM:609165	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:614495	KLHL3	26249	HP:0002153	Hyperkalemia
OMIM:614495	KLHL3	26249	HP:0011423	Hyperchloremia
OMIM:614495	KLHL3	26249	HP:0000006	Autosomal dominant inheritance
OMIM:614495	KLHL3	26249	HP:0000822	Hypertension
OMIM:614495	KLHL3	26249	HP:0008242	Pseudohypoaldosteronism
OMIM:614495	KLHL3	26249	HP:0000007	Autosomal recessive inheritance
OMIM:308240	SH2D1A	4068	HP:0001287	Meningitis
OMIM:308240	SH2D1A	4068	HP:0001876	Pancytopenia
OMIM:308240	SH2D1A	4068	HP:0002240	Hepatomegaly
OMIM:308240	SH2D1A	4068	HP:0001419	X-linked recessive inheritance
OMIM:308240	SH2D1A	4068	HP:0001744	Splenomegaly
OMIM:308240	SH2D1A	4068	HP:0002383	Encephalitis
OMIM:308240	SH2D1A	4068	HP:0001873	Thrombocytopenia
OMIM:308240	SH2D1A	4068	HP:0001903	Anemia
OMIM:308240	SH2D1A	4068	HP:0002716	Lymphadenopathy
OMIM:308240	SH2D1A	4068	HP:0004315	IgG deficiency
OMIM:308240	SH2D1A	4068	HP:0002721	Immunodeficiency
OMIM:308240	SH2D1A	4068	HP:0002665	Lymphoma
OMIM:308240	XIAP	331	HP:0001287	Meningitis
OMIM:308240	XIAP	331	HP:0001876	Pancytopenia
OMIM:308240	XIAP	331	HP:0002240	Hepatomegaly
OMIM:308240	XIAP	331	HP:0001419	X-linked recessive inheritance
OMIM:308240	XIAP	331	HP:0001744	Splenomegaly
OMIM:308240	XIAP	331	HP:0002383	Encephalitis
OMIM:308240	XIAP	331	HP:0001873	Thrombocytopenia
OMIM:308240	XIAP	331	HP:0001903	Anemia
OMIM:308240	XIAP	331	HP:0002716	Lymphadenopathy
OMIM:308240	XIAP	331	HP:0004315	IgG deficiency
OMIM:308240	XIAP	331	HP:0002721	Immunodeficiency
OMIM:308240	XIAP	331	HP:0002665	Lymphoma
OMIM:176807	BRCA1	672	HP:0012125	Prostate cancer
OMIM:176807	BRCA1	672	HP:0000006	Autosomal dominant inheritance
OMIM:176807	CHEK2	11200	HP:0012125	Prostate cancer
OMIM:176807	CHEK2	11200	HP:0000006	Autosomal dominant inheritance
OMIM:176807	EPHB2	2048	HP:0012125	Prostate cancer
OMIM:176807	EPHB2	2048	HP:0000006	Autosomal dominant inheritance
OMIM:176807	MSR1	4481	HP:0012125	Prostate cancer
OMIM:176807	MSR1	4481	HP:0000006	Autosomal dominant inheritance
OMIM:176807	BRCA2	675	HP:0012125	Prostate cancer
OMIM:176807	BRCA2	675	HP:0000006	Autosomal dominant inheritance
OMIM:176807	KLF6	1316	HP:0012125	Prostate cancer
OMIM:176807	KLF6	1316	HP:0000006	Autosomal dominant inheritance
OMIM:176807	NBN	4683	HP:0012125	Prostate cancer
OMIM:176807	NBN	4683	HP:0000006	Autosomal dominant inheritance
OMIM:176807	AR	367	HP:0012125	Prostate cancer
OMIM:176807	AR	367	HP:0000006	Autosomal dominant inheritance
OMIM:176807	ELAC2	60528	HP:0012125	Prostate cancer
OMIM:176807	ELAC2	60528	HP:0000006	Autosomal dominant inheritance
OMIM:176807	HNF1B	6928	HP:0012125	Prostate cancer
OMIM:176807	HNF1B	6928	HP:0000006	Autosomal dominant inheritance
OMIM:176807	HOXB13	10481	HP:0012125	Prostate cancer
OMIM:176807	HOXB13	10481	HP:0000006	Autosomal dominant inheritance
OMIM:176807	RNASEL	6041	HP:0012125	Prostate cancer
OMIM:176807	RNASEL	6041	HP:0000006	Autosomal dominant inheritance
OMIM:176807	MAD1L1	8379	HP:0012125	Prostate cancer
OMIM:176807	MAD1L1	8379	HP:0000006	Autosomal dominant inheritance
OMIM:176807	SRD5A2	6716	HP:0012125	Prostate cancer
OMIM:176807	SRD5A2	6716	HP:0000006	Autosomal dominant inheritance
OMIM:176807	MSMB	4477	HP:0012125	Prostate cancer
OMIM:176807	MSMB	4477	HP:0000006	Autosomal dominant inheritance
OMIM:611820	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:611820	CALM2	805	HP:0001657	Prolonged QT interval
OMIM:611820	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:611820	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:611820	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:611820	KCNH2	3757	HP:0001657	Prolonged QT interval
OMIM:611820	SNTA1	6640	HP:0001657	Prolonged QT interval
OMIM:611820	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:611820	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:611820	NOS1AP	9722	HP:0001657	Prolonged QT interval
OMIM:611820	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:611820	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:611820	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:611820	ANK2	287	HP:0001657	Prolonged QT interval
OMIM:607078	MATN3	4148	HP:0001216	Delayed ossification of carpal bones
OMIM:607078	MATN3	4148	HP:0003025	Metaphyseal irregularity
OMIM:607078	MATN3	4148	HP:0002812	Coxa vara
OMIM:607078	MATN3	4148	HP:0002970	Genu varum
OMIM:607078	MATN3	4148	HP:0002829	Arthralgia
OMIM:607078	MATN3	4148	HP:0002857	Genu valgum
OMIM:607078	MATN3	4148	HP:0001288	Gait disturbance
OMIM:607078	MATN3	4148	HP:0001376	Limitation of joint mobility
OMIM:607078	MATN3	4148	HP:0002983	Micromelia
OMIM:607078	MATN3	4148	HP:0100864	Short femoral neck
OMIM:607078	MATN3	4148	HP:0004322	Short stature
OMIM:607078	MATN3	4148	HP:0000006	Autosomal dominant inheritance
OMIM:271630	PAPSS2	9060	HP:0007759	Opacification of the corneal stroma
OMIM:271630	PAPSS2	9060	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:271630	PAPSS2	9060	HP:0001288	Gait disturbance
OMIM:271630	PAPSS2	9060	HP:0000470	Short neck
OMIM:271630	PAPSS2	9060	HP:0002983	Micromelia
OMIM:271630	PAPSS2	9060	HP:0000944	Abnormality of the metaphyses
OMIM:271630	PAPSS2	9060	HP:0100864	Short femoral neck
OMIM:271630	PAPSS2	9060	HP:0002650	Scoliosis
OMIM:271630	PAPSS2	9060	HP:0000926	Platyspondyly
OMIM:271630	PAPSS2	9060	HP:0003521	Disproportionate short-trunk short stature
OMIM:271630	PAPSS2	9060	HP:0008155	Mucopolysacchariduria
OMIM:271630	PAPSS2	9060	HP:0010306	Short thorax
OMIM:271630	PAPSS2	9060	HP:0003416	Spinal canal stenosis
OMIM:271630	PAPSS2	9060	HP:0000007	Autosomal recessive inheritance
OMIM:271630	PAPSS2	9060	HP:0002751	Kyphoscoliosis
OMIM:271630	PAPSS2	9060	HP:0000772	Abnormality of the ribs
OMIM:271630	PAPSS2	9060	HP:0003301	Irregular vertebral endplates
OMIM:612278	IRGM	345611	HP:0002037	Inflammation of the large intestine
OMIM:305100	EDA2R	60401	HP:0002007	Frontal bossing
OMIM:305100	EDA2R	60401	HP:0001419	X-linked recessive inheritance
OMIM:305100	EDA2R	60401	HP:0000977	Soft skin
OMIM:305100	EDA2R	60401	HP:0000430	Underdeveloped nasal alae
OMIM:305100	EDA2R	60401	HP:0001618	Dysphonia
OMIM:305100	EDA2R	60401	HP:0001945	Fever
OMIM:305100	EDA2R	60401	HP:0000327	Hypoplasia of the maxilla
OMIM:305100	EDA2R	60401	HP:0000830	Anterior hypopituitarism
OMIM:305100	EDA2R	60401	HP:0000232	Everted lower lip vermilion
OMIM:305100	EDA2R	60401	HP:0011362	Abnormal hair quantity
OMIM:305100	EDA2R	60401	HP:0002880	Respiratory difficulties
OMIM:305100	EDA2R	60401	HP:0000331	Short chin
OMIM:305100	EDA2R	60401	HP:0000963	Thin skin
OMIM:305100	EDA2R	60401	HP:0000668	Hypodontia
OMIM:305100	EDA2R	60401	HP:0005280	Depressed nasal bridge
OMIM:305100	EDA2R	60401	HP:0000966	Hypohidrosis
OMIM:305100	EDA2R	60401	HP:0000653	Sparse eyelashes
OMIM:305100	EDA2R	60401	HP:0000964	Eczema
OMIM:305100	EDA2R	60401	HP:0000822	Hypertension
OMIM:305100	EDA2R	60401	HP:0000691	Microdontia
OMIM:305100	EDA2R	60401	HP:0012471	Thick vermilion border
OMIM:305100	EDA2R	60401	HP:0000970	Anhidrosis
OMIM:305100	EDA2R	60401	HP:0000684	Delayed eruption of teeth
OMIM:305100	EDA2R	60401	HP:0009882	Short distal phalanx of finger
OMIM:305100	EDA2R	60401	HP:0002299	Brittle hair
OMIM:305100	EDA2R	60401	HP:0001609	Hoarse voice
OMIM:305100	EDA2R	60401	HP:0000679	Taurodontia
OMIM:305100	EDA2R	60401	HP:0002557	Hypoplastic nipples
OMIM:305100	EDA2R	60401	HP:0000535	Sparse eyebrow
OMIM:305100	EDA2R	60401	HP:0000958	Dry skin
OMIM:305100	EDA2R	60401	HP:0011830	Abnormality of oral mucosa
OMIM:305100	EDA2R	60401	HP:0001425	Heterogeneous
OMIM:305100	EDA2R	60401	HP:0000336	Prominent supraorbital ridges
OMIM:305100	EDA2R	60401	HP:0003196	Short nose
OMIM:305100	EDA2R	60401	HP:0000457	Depressed nasal ridge
OMIM:305100	EDA	1896	HP:0002007	Frontal bossing
OMIM:305100	EDA	1896	HP:0001419	X-linked recessive inheritance
OMIM:305100	EDA	1896	HP:0000977	Soft skin
OMIM:305100	EDA	1896	HP:0000430	Underdeveloped nasal alae
OMIM:305100	EDA	1896	HP:0001618	Dysphonia
OMIM:305100	EDA	1896	HP:0001945	Fever
OMIM:305100	EDA	1896	HP:0000327	Hypoplasia of the maxilla
OMIM:305100	EDA	1896	HP:0000830	Anterior hypopituitarism
OMIM:305100	EDA	1896	HP:0000232	Everted lower lip vermilion
OMIM:305100	EDA	1896	HP:0011362	Abnormal hair quantity
OMIM:305100	EDA	1896	HP:0002880	Respiratory difficulties
OMIM:305100	EDA	1896	HP:0000331	Short chin
OMIM:305100	EDA	1896	HP:0000963	Thin skin
OMIM:305100	EDA	1896	HP:0000668	Hypodontia
OMIM:305100	EDA	1896	HP:0005280	Depressed nasal bridge
OMIM:305100	EDA	1896	HP:0000966	Hypohidrosis
OMIM:305100	EDA	1896	HP:0000653	Sparse eyelashes
OMIM:305100	EDA	1896	HP:0000964	Eczema
OMIM:305100	EDA	1896	HP:0000822	Hypertension
OMIM:305100	EDA	1896	HP:0000691	Microdontia
OMIM:305100	EDA	1896	HP:0012471	Thick vermilion border
OMIM:305100	EDA	1896	HP:0000970	Anhidrosis
OMIM:305100	EDA	1896	HP:0000684	Delayed eruption of teeth
OMIM:305100	EDA	1896	HP:0009882	Short distal phalanx of finger
OMIM:305100	EDA	1896	HP:0002299	Brittle hair
OMIM:305100	EDA	1896	HP:0001609	Hoarse voice
OMIM:305100	EDA	1896	HP:0000679	Taurodontia
OMIM:305100	EDA	1896	HP:0002557	Hypoplastic nipples
OMIM:305100	EDA	1896	HP:0000535	Sparse eyebrow
OMIM:305100	EDA	1896	HP:0000958	Dry skin
OMIM:305100	EDA	1896	HP:0011830	Abnormality of oral mucosa
OMIM:305100	EDA	1896	HP:0001425	Heterogeneous
OMIM:305100	EDA	1896	HP:0000336	Prominent supraorbital ridges
OMIM:305100	EDA	1896	HP:0003196	Short nose
OMIM:305100	EDA	1896	HP:0000457	Depressed nasal ridge
OMIM:611638	VSX2	338917	HP:0000568	Microphthalmia
OMIM:611638	VSX2	338917	HP:0000006	Autosomal dominant inheritance
OMIM:611638	VSX2	338917	HP:0001360	Holoprosencephaly
OMIM:611638	VSX2	338917	HP:0003828	Variable expressivity
OMIM:611638	VSX2	338917	HP:0000528	Anophthalmia
OMIM:611638	VSX2	338917	HP:0000202	Oral cleft
OMIM:611638	VSX2	338917	HP:0003829	Incomplete penetrance
OMIM:611638	VSX2	338917	HP:0000504	Abnormality of vision
OMIM:611638	TENM3	55714	HP:0000568	Microphthalmia
OMIM:611638	TENM3	55714	HP:0000006	Autosomal dominant inheritance
OMIM:611638	TENM3	55714	HP:0001360	Holoprosencephaly
OMIM:611638	TENM3	55714	HP:0003828	Variable expressivity
OMIM:611638	TENM3	55714	HP:0000528	Anophthalmia
OMIM:611638	TENM3	55714	HP:0000202	Oral cleft
OMIM:611638	TENM3	55714	HP:0003829	Incomplete penetrance
OMIM:611638	TENM3	55714	HP:0000504	Abnormality of vision
OMIM:611638	SHH	6469	HP:0000568	Microphthalmia
OMIM:611638	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:611638	SHH	6469	HP:0001360	Holoprosencephaly
OMIM:611638	SHH	6469	HP:0003828	Variable expressivity
OMIM:611638	SHH	6469	HP:0000528	Anophthalmia
OMIM:611638	SHH	6469	HP:0000202	Oral cleft
OMIM:611638	SHH	6469	HP:0003829	Incomplete penetrance
OMIM:611638	SHH	6469	HP:0000504	Abnormality of vision
OMIM:611638	GDF3	9573	HP:0000568	Microphthalmia
OMIM:611638	GDF3	9573	HP:0000006	Autosomal dominant inheritance
OMIM:611638	GDF3	9573	HP:0001360	Holoprosencephaly
OMIM:611638	GDF3	9573	HP:0003828	Variable expressivity
OMIM:611638	GDF3	9573	HP:0000528	Anophthalmia
OMIM:611638	GDF3	9573	HP:0000202	Oral cleft
OMIM:611638	GDF3	9573	HP:0003829	Incomplete penetrance
OMIM:611638	GDF3	9573	HP:0000504	Abnormality of vision
OMIM:611638	GDF6	392255	HP:0000568	Microphthalmia
OMIM:611638	GDF6	392255	HP:0000006	Autosomal dominant inheritance
OMIM:611638	GDF6	392255	HP:0001360	Holoprosencephaly
OMIM:611638	GDF6	392255	HP:0003828	Variable expressivity
OMIM:611638	GDF6	392255	HP:0000528	Anophthalmia
OMIM:611638	GDF6	392255	HP:0000202	Oral cleft
OMIM:611638	GDF6	392255	HP:0003829	Incomplete penetrance
OMIM:611638	GDF6	392255	HP:0000504	Abnormality of vision
OMIM:611638	ABCB6	10058	HP:0000568	Microphthalmia
OMIM:611638	ABCB6	10058	HP:0000006	Autosomal dominant inheritance
OMIM:611638	ABCB6	10058	HP:0001360	Holoprosencephaly
OMIM:611638	ABCB6	10058	HP:0003828	Variable expressivity
OMIM:611638	ABCB6	10058	HP:0000528	Anophthalmia
OMIM:611638	ABCB6	10058	HP:0000202	Oral cleft
OMIM:611638	ABCB6	10058	HP:0003829	Incomplete penetrance
OMIM:611638	ABCB6	10058	HP:0000504	Abnormality of vision
OMIM:611638	STRA6	64220	HP:0000568	Microphthalmia
OMIM:611638	STRA6	64220	HP:0000006	Autosomal dominant inheritance
OMIM:611638	STRA6	64220	HP:0001360	Holoprosencephaly
OMIM:611638	STRA6	64220	HP:0003828	Variable expressivity
OMIM:611638	STRA6	64220	HP:0000528	Anophthalmia
OMIM:611638	STRA6	64220	HP:0000202	Oral cleft
OMIM:611638	STRA6	64220	HP:0003829	Incomplete penetrance
OMIM:611638	STRA6	64220	HP:0000504	Abnormality of vision
OMIM:611638	RBP4	5950	HP:0000568	Microphthalmia
OMIM:611638	RBP4	5950	HP:0000006	Autosomal dominant inheritance
OMIM:611638	RBP4	5950	HP:0001360	Holoprosencephaly
OMIM:611638	RBP4	5950	HP:0003828	Variable expressivity
OMIM:611638	RBP4	5950	HP:0000528	Anophthalmia
OMIM:611638	RBP4	5950	HP:0000202	Oral cleft
OMIM:611638	RBP4	5950	HP:0003829	Incomplete penetrance
OMIM:611638	RBP4	5950	HP:0000504	Abnormality of vision
OMIM:604004	MLC1	23209	HP:0000256	Macrocephaly
OMIM:604004	MLC1	23209	HP:0000007	Autosomal recessive inheritance
OMIM:604004	MLC1	23209	HP:0001251	Ataxia
OMIM:604004	MLC1	23209	HP:0001250	Seizures
OMIM:604004	MLC1	23209	HP:0001270	Motor delay
OMIM:604004	MLC1	23209	HP:0003593	Infantile onset
OMIM:604004	MLC1	23209	HP:0001256	Intellectual disability, mild
OMIM:604004	MLC1	23209	HP:0001257	Spasticity
OMIM:604004	HEPACAM	220296	HP:0000256	Macrocephaly
OMIM:604004	HEPACAM	220296	HP:0000007	Autosomal recessive inheritance
OMIM:604004	HEPACAM	220296	HP:0001251	Ataxia
OMIM:604004	HEPACAM	220296	HP:0001250	Seizures
OMIM:604004	HEPACAM	220296	HP:0001270	Motor delay
OMIM:604004	HEPACAM	220296	HP:0003593	Infantile onset
OMIM:604004	HEPACAM	220296	HP:0001256	Intellectual disability, mild
OMIM:604004	HEPACAM	220296	HP:0001257	Spasticity
OMIM:602554	TOR1A	1861	HP:0003593	Infantile onset
OMIM:602554	TOR1A	1861	HP:0001304	Torsion dystonia
OMIM:602554	TOR1A	1861	HP:0000006	Autosomal dominant inheritance
OMIM:300807	F9	2158	HP:0001417	X-linked inheritance
OMIM:300807	F9	2158	HP:0010989	Abnormality of the intrinsic pathway
OMIM:616176	PRKACG	5568	HP:0001903	Anemia
OMIM:616176	PRKACG	5568	HP:0000421	Epistaxis
OMIM:142335	HBB	3043	HP:0000006	Autosomal dominant inheritance
OMIM:142335	HBB	3043	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:142335	KLF1	10661	HP:0000006	Autosomal dominant inheritance
OMIM:142335	KLF1	10661	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:142335	BCL11A	53335	HP:0000006	Autosomal dominant inheritance
OMIM:142335	BCL11A	53335	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:142335	HBG1	3047	HP:0000006	Autosomal dominant inheritance
OMIM:142335	HBG1	3047	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:142335	HBG2	3048	HP:0000006	Autosomal dominant inheritance
OMIM:142335	HBG2	3048	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:300850	ZNF711	7552	HP:0000582	Upslanted palpebral fissure
OMIM:300850	ZNF711	7552	HP:0001250	Seizures
OMIM:300850	ZNF711	7552	HP:0000708	Behavioral abnormality
OMIM:300850	ZNF711	7552	HP:0000750	Delayed speech and language development
OMIM:300850	ZNF711	7552	HP:0001263	Global developmental delay
OMIM:300850	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300850	ZNF711	7552	HP:0000218	High palate
OMIM:300850	ZNF711	7552	HP:0000486	Strabismus
OMIM:300850	ZNF711	7552	HP:0000774	Narrow chest
OMIM:300850	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300850	ZNF711	7552	HP:0000805	Enuresis
OMIM:300850	ZNF711	7552	HP:0001252	Muscular hypotonia
OMIM:300850	IL1RAPL1	11141	HP:0000582	Upslanted palpebral fissure
OMIM:300850	IL1RAPL1	11141	HP:0001250	Seizures
OMIM:300850	IL1RAPL1	11141	HP:0000708	Behavioral abnormality
OMIM:300850	IL1RAPL1	11141	HP:0000750	Delayed speech and language development
OMIM:300850	IL1RAPL1	11141	HP:0001263	Global developmental delay
OMIM:300850	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300850	IL1RAPL1	11141	HP:0000218	High palate
OMIM:300850	IL1RAPL1	11141	HP:0000486	Strabismus
OMIM:300850	IL1RAPL1	11141	HP:0000774	Narrow chest
OMIM:300850	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300850	IL1RAPL1	11141	HP:0000805	Enuresis
OMIM:300850	IL1RAPL1	11141	HP:0001252	Muscular hypotonia
OMIM:300850	ACSL4	2182	HP:0000582	Upslanted palpebral fissure
OMIM:300850	ACSL4	2182	HP:0001250	Seizures
OMIM:300850	ACSL4	2182	HP:0000708	Behavioral abnormality
OMIM:300850	ACSL4	2182	HP:0000750	Delayed speech and language development
OMIM:300850	ACSL4	2182	HP:0001263	Global developmental delay
OMIM:300850	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300850	ACSL4	2182	HP:0000218	High palate
OMIM:300850	ACSL4	2182	HP:0000486	Strabismus
OMIM:300850	ACSL4	2182	HP:0000774	Narrow chest
OMIM:300850	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300850	ACSL4	2182	HP:0000805	Enuresis
OMIM:300850	ACSL4	2182	HP:0001252	Muscular hypotonia
OMIM:300850	PAK3	5063	HP:0000582	Upslanted palpebral fissure
OMIM:300850	PAK3	5063	HP:0001250	Seizures
OMIM:300850	PAK3	5063	HP:0000708	Behavioral abnormality
OMIM:300850	PAK3	5063	HP:0000750	Delayed speech and language development
OMIM:300850	PAK3	5063	HP:0001263	Global developmental delay
OMIM:300850	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300850	PAK3	5063	HP:0000218	High palate
OMIM:300850	PAK3	5063	HP:0000486	Strabismus
OMIM:300850	PAK3	5063	HP:0000774	Narrow chest
OMIM:300850	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300850	PAK3	5063	HP:0000805	Enuresis
OMIM:300850	PAK3	5063	HP:0001252	Muscular hypotonia
OMIM:300850	SYP	6855	HP:0000582	Upslanted palpebral fissure
OMIM:300850	SYP	6855	HP:0001250	Seizures
OMIM:300850	SYP	6855	HP:0000708	Behavioral abnormality
OMIM:300850	SYP	6855	HP:0000750	Delayed speech and language development
OMIM:300850	SYP	6855	HP:0001263	Global developmental delay
OMIM:300850	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300850	SYP	6855	HP:0000218	High palate
OMIM:300850	SYP	6855	HP:0000486	Strabismus
OMIM:300850	SYP	6855	HP:0000774	Narrow chest
OMIM:300850	SYP	6855	HP:0001249	Intellectual disability
OMIM:300850	SYP	6855	HP:0000805	Enuresis
OMIM:300850	SYP	6855	HP:0001252	Muscular hypotonia
OMIM:300850	FTSJ1	24140	HP:0000582	Upslanted palpebral fissure
OMIM:300850	FTSJ1	24140	HP:0001250	Seizures
OMIM:300850	FTSJ1	24140	HP:0000708	Behavioral abnormality
OMIM:300850	FTSJ1	24140	HP:0000750	Delayed speech and language development
OMIM:300850	FTSJ1	24140	HP:0001263	Global developmental delay
OMIM:300850	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300850	FTSJ1	24140	HP:0000218	High palate
OMIM:300850	FTSJ1	24140	HP:0000486	Strabismus
OMIM:300850	FTSJ1	24140	HP:0000774	Narrow chest
OMIM:300850	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300850	FTSJ1	24140	HP:0000805	Enuresis
OMIM:300850	FTSJ1	24140	HP:0001252	Muscular hypotonia
OMIM:300850	DLG3	1741	HP:0000582	Upslanted palpebral fissure
OMIM:300850	DLG3	1741	HP:0001250	Seizures
OMIM:300850	DLG3	1741	HP:0000708	Behavioral abnormality
OMIM:300850	DLG3	1741	HP:0000750	Delayed speech and language development
OMIM:300850	DLG3	1741	HP:0001263	Global developmental delay
OMIM:300850	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300850	DLG3	1741	HP:0000218	High palate
OMIM:300850	DLG3	1741	HP:0000486	Strabismus
OMIM:300850	DLG3	1741	HP:0000774	Narrow chest
OMIM:300850	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300850	DLG3	1741	HP:0000805	Enuresis
OMIM:300850	DLG3	1741	HP:0001252	Muscular hypotonia
OMIM:300850	PTCHD1	139411	HP:0000582	Upslanted palpebral fissure
OMIM:300850	PTCHD1	139411	HP:0001250	Seizures
OMIM:300850	PTCHD1	139411	HP:0000708	Behavioral abnormality
OMIM:300850	PTCHD1	139411	HP:0000750	Delayed speech and language development
OMIM:300850	PTCHD1	139411	HP:0001263	Global developmental delay
OMIM:300850	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300850	PTCHD1	139411	HP:0000218	High palate
OMIM:300850	PTCHD1	139411	HP:0000486	Strabismus
OMIM:300850	PTCHD1	139411	HP:0000774	Narrow chest
OMIM:300850	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300850	PTCHD1	139411	HP:0000805	Enuresis
OMIM:300850	PTCHD1	139411	HP:0001252	Muscular hypotonia
OMIM:300850	UPF3B	65109	HP:0000582	Upslanted palpebral fissure
OMIM:300850	UPF3B	65109	HP:0001250	Seizures
OMIM:300850	UPF3B	65109	HP:0000708	Behavioral abnormality
OMIM:300850	UPF3B	65109	HP:0000750	Delayed speech and language development
OMIM:300850	UPF3B	65109	HP:0001263	Global developmental delay
OMIM:300850	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300850	UPF3B	65109	HP:0000218	High palate
OMIM:300850	UPF3B	65109	HP:0000486	Strabismus
OMIM:300850	UPF3B	65109	HP:0000774	Narrow chest
OMIM:300850	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300850	UPF3B	65109	HP:0000805	Enuresis
OMIM:300850	UPF3B	65109	HP:0001252	Muscular hypotonia
OMIM:300850	ZNF81	347344	HP:0000582	Upslanted palpebral fissure
OMIM:300850	ZNF81	347344	HP:0001250	Seizures
OMIM:300850	ZNF81	347344	HP:0000708	Behavioral abnormality
OMIM:300850	ZNF81	347344	HP:0000750	Delayed speech and language development
OMIM:300850	ZNF81	347344	HP:0001263	Global developmental delay
OMIM:300850	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300850	ZNF81	347344	HP:0000218	High palate
OMIM:300850	ZNF81	347344	HP:0000486	Strabismus
OMIM:300850	ZNF81	347344	HP:0000774	Narrow chest
OMIM:300850	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300850	ZNF81	347344	HP:0000805	Enuresis
OMIM:300850	ZNF81	347344	HP:0001252	Muscular hypotonia
OMIM:300850	RAB39B	116442	HP:0000582	Upslanted palpebral fissure
OMIM:300850	RAB39B	116442	HP:0001250	Seizures
OMIM:300850	RAB39B	116442	HP:0000708	Behavioral abnormality
OMIM:300850	RAB39B	116442	HP:0000750	Delayed speech and language development
OMIM:300850	RAB39B	116442	HP:0001263	Global developmental delay
OMIM:300850	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300850	RAB39B	116442	HP:0000218	High palate
OMIM:300850	RAB39B	116442	HP:0000486	Strabismus
OMIM:300850	RAB39B	116442	HP:0000774	Narrow chest
OMIM:300850	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300850	RAB39B	116442	HP:0000805	Enuresis
OMIM:300850	RAB39B	116442	HP:0001252	Muscular hypotonia
OMIM:300850	DMD	1756	HP:0000582	Upslanted palpebral fissure
OMIM:300850	DMD	1756	HP:0001250	Seizures
OMIM:300850	DMD	1756	HP:0000708	Behavioral abnormality
OMIM:300850	DMD	1756	HP:0000750	Delayed speech and language development
OMIM:300850	DMD	1756	HP:0001263	Global developmental delay
OMIM:300850	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300850	DMD	1756	HP:0000218	High palate
OMIM:300850	DMD	1756	HP:0000486	Strabismus
OMIM:300850	DMD	1756	HP:0000774	Narrow chest
OMIM:300850	DMD	1756	HP:0001249	Intellectual disability
OMIM:300850	DMD	1756	HP:0000805	Enuresis
OMIM:300850	DMD	1756	HP:0001252	Muscular hypotonia
OMIM:300850	MAGT1	84061	HP:0000582	Upslanted palpebral fissure
OMIM:300850	MAGT1	84061	HP:0001250	Seizures
OMIM:300850	MAGT1	84061	HP:0000708	Behavioral abnormality
OMIM:300850	MAGT1	84061	HP:0000750	Delayed speech and language development
OMIM:300850	MAGT1	84061	HP:0001263	Global developmental delay
OMIM:300850	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300850	MAGT1	84061	HP:0000218	High palate
OMIM:300850	MAGT1	84061	HP:0000486	Strabismus
OMIM:300850	MAGT1	84061	HP:0000774	Narrow chest
OMIM:300850	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300850	MAGT1	84061	HP:0000805	Enuresis
OMIM:300850	MAGT1	84061	HP:0001252	Muscular hypotonia
OMIM:300850	MID2	11043	HP:0000582	Upslanted palpebral fissure
OMIM:300850	MID2	11043	HP:0001250	Seizures
OMIM:300850	MID2	11043	HP:0000708	Behavioral abnormality
OMIM:300850	MID2	11043	HP:0000750	Delayed speech and language development
OMIM:300850	MID2	11043	HP:0001263	Global developmental delay
OMIM:300850	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300850	MID2	11043	HP:0000218	High palate
OMIM:300850	MID2	11043	HP:0000486	Strabismus
OMIM:300850	MID2	11043	HP:0000774	Narrow chest
OMIM:300850	MID2	11043	HP:0001249	Intellectual disability
OMIM:300850	MID2	11043	HP:0000805	Enuresis
OMIM:300850	MID2	11043	HP:0001252	Muscular hypotonia
OMIM:300850	GDI1	2664	HP:0000582	Upslanted palpebral fissure
OMIM:300850	GDI1	2664	HP:0001250	Seizures
OMIM:300850	GDI1	2664	HP:0000708	Behavioral abnormality
OMIM:300850	GDI1	2664	HP:0000750	Delayed speech and language development
OMIM:300850	GDI1	2664	HP:0001263	Global developmental delay
OMIM:300850	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300850	GDI1	2664	HP:0000218	High palate
OMIM:300850	GDI1	2664	HP:0000486	Strabismus
OMIM:300850	GDI1	2664	HP:0000774	Narrow chest
OMIM:300850	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300850	GDI1	2664	HP:0000805	Enuresis
OMIM:300850	GDI1	2664	HP:0001252	Muscular hypotonia
OMIM:300850	ZNF41	7592	HP:0000582	Upslanted palpebral fissure
OMIM:300850	ZNF41	7592	HP:0001250	Seizures
OMIM:300850	ZNF41	7592	HP:0000708	Behavioral abnormality
OMIM:300850	ZNF41	7592	HP:0000750	Delayed speech and language development
OMIM:300850	ZNF41	7592	HP:0001263	Global developmental delay
OMIM:300850	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300850	ZNF41	7592	HP:0000218	High palate
OMIM:300850	ZNF41	7592	HP:0000486	Strabismus
OMIM:300850	ZNF41	7592	HP:0000774	Narrow chest
OMIM:300850	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300850	ZNF41	7592	HP:0000805	Enuresis
OMIM:300850	ZNF41	7592	HP:0001252	Muscular hypotonia
OMIM:300850	MECP2	4204	HP:0000582	Upslanted palpebral fissure
OMIM:300850	MECP2	4204	HP:0001250	Seizures
OMIM:300850	MECP2	4204	HP:0000708	Behavioral abnormality
OMIM:300850	MECP2	4204	HP:0000750	Delayed speech and language development
OMIM:300850	MECP2	4204	HP:0001263	Global developmental delay
OMIM:300850	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300850	MECP2	4204	HP:0000218	High palate
OMIM:300850	MECP2	4204	HP:0000486	Strabismus
OMIM:300850	MECP2	4204	HP:0000774	Narrow chest
OMIM:300850	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300850	MECP2	4204	HP:0000805	Enuresis
OMIM:300850	MECP2	4204	HP:0001252	Muscular hypotonia
OMIM:300850	HCFC1	3054	HP:0000582	Upslanted palpebral fissure
OMIM:300850	HCFC1	3054	HP:0001250	Seizures
OMIM:300850	HCFC1	3054	HP:0000708	Behavioral abnormality
OMIM:300850	HCFC1	3054	HP:0000750	Delayed speech and language development
OMIM:300850	HCFC1	3054	HP:0001263	Global developmental delay
OMIM:300850	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300850	HCFC1	3054	HP:0000218	High palate
OMIM:300850	HCFC1	3054	HP:0000486	Strabismus
OMIM:300850	HCFC1	3054	HP:0000774	Narrow chest
OMIM:300850	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300850	HCFC1	3054	HP:0000805	Enuresis
OMIM:300850	HCFC1	3054	HP:0001252	Muscular hypotonia
OMIM:300850	USP9X	8239	HP:0000582	Upslanted palpebral fissure
OMIM:300850	USP9X	8239	HP:0001250	Seizures
OMIM:300850	USP9X	8239	HP:0000708	Behavioral abnormality
OMIM:300850	USP9X	8239	HP:0000750	Delayed speech and language development
OMIM:300850	USP9X	8239	HP:0001263	Global developmental delay
OMIM:300850	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300850	USP9X	8239	HP:0000218	High palate
OMIM:300850	USP9X	8239	HP:0000486	Strabismus
OMIM:300850	USP9X	8239	HP:0000774	Narrow chest
OMIM:300850	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300850	USP9X	8239	HP:0000805	Enuresis
OMIM:300850	USP9X	8239	HP:0001252	Muscular hypotonia
OMIM:300850	MED12	9968	HP:0000582	Upslanted palpebral fissure
OMIM:300850	MED12	9968	HP:0001250	Seizures
OMIM:300850	MED12	9968	HP:0000708	Behavioral abnormality
OMIM:300850	MED12	9968	HP:0000750	Delayed speech and language development
OMIM:300850	MED12	9968	HP:0001263	Global developmental delay
OMIM:300850	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300850	MED12	9968	HP:0000218	High palate
OMIM:300850	MED12	9968	HP:0000486	Strabismus
OMIM:300850	MED12	9968	HP:0000774	Narrow chest
OMIM:300850	MED12	9968	HP:0001249	Intellectual disability
OMIM:300850	MED12	9968	HP:0000805	Enuresis
OMIM:300850	MED12	9968	HP:0001252	Muscular hypotonia
OMIM:300850	ZNF674	641339	HP:0000582	Upslanted palpebral fissure
OMIM:300850	ZNF674	641339	HP:0001250	Seizures
OMIM:300850	ZNF674	641339	HP:0000708	Behavioral abnormality
OMIM:300850	ZNF674	641339	HP:0000750	Delayed speech and language development
OMIM:300850	ZNF674	641339	HP:0001263	Global developmental delay
OMIM:300850	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300850	ZNF674	641339	HP:0000218	High palate
OMIM:300850	ZNF674	641339	HP:0000486	Strabismus
OMIM:300850	ZNF674	641339	HP:0000774	Narrow chest
OMIM:300850	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300850	ZNF674	641339	HP:0000805	Enuresis
OMIM:300850	ZNF674	641339	HP:0001252	Muscular hypotonia
OMIM:300850	ARHGEF6	9459	HP:0000582	Upslanted palpebral fissure
OMIM:300850	ARHGEF6	9459	HP:0001250	Seizures
OMIM:300850	ARHGEF6	9459	HP:0000708	Behavioral abnormality
OMIM:300850	ARHGEF6	9459	HP:0000750	Delayed speech and language development
OMIM:300850	ARHGEF6	9459	HP:0001263	Global developmental delay
OMIM:300850	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300850	ARHGEF6	9459	HP:0000218	High palate
OMIM:300850	ARHGEF6	9459	HP:0000486	Strabismus
OMIM:300850	ARHGEF6	9459	HP:0000774	Narrow chest
OMIM:300850	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300850	ARHGEF6	9459	HP:0000805	Enuresis
OMIM:300850	ARHGEF6	9459	HP:0001252	Muscular hypotonia
OMIM:300850	RPS6KA3	6197	HP:0000582	Upslanted palpebral fissure
OMIM:300850	RPS6KA3	6197	HP:0001250	Seizures
OMIM:300850	RPS6KA3	6197	HP:0000708	Behavioral abnormality
OMIM:300850	RPS6KA3	6197	HP:0000750	Delayed speech and language development
OMIM:300850	RPS6KA3	6197	HP:0001263	Global developmental delay
OMIM:300850	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300850	RPS6KA3	6197	HP:0000218	High palate
OMIM:300850	RPS6KA3	6197	HP:0000486	Strabismus
OMIM:300850	RPS6KA3	6197	HP:0000774	Narrow chest
OMIM:300850	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300850	RPS6KA3	6197	HP:0000805	Enuresis
OMIM:300850	RPS6KA3	6197	HP:0001252	Muscular hypotonia
OMIM:300850	IQSEC2	23096	HP:0000582	Upslanted palpebral fissure
OMIM:300850	IQSEC2	23096	HP:0001250	Seizures
OMIM:300850	IQSEC2	23096	HP:0000708	Behavioral abnormality
OMIM:300850	IQSEC2	23096	HP:0000750	Delayed speech and language development
OMIM:300850	IQSEC2	23096	HP:0001263	Global developmental delay
OMIM:300850	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300850	IQSEC2	23096	HP:0000218	High palate
OMIM:300850	IQSEC2	23096	HP:0000486	Strabismus
OMIM:300850	IQSEC2	23096	HP:0000774	Narrow chest
OMIM:300850	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300850	IQSEC2	23096	HP:0000805	Enuresis
OMIM:300850	IQSEC2	23096	HP:0001252	Muscular hypotonia
OMIM:300850	AGTR2	186	HP:0000582	Upslanted palpebral fissure
OMIM:300850	AGTR2	186	HP:0001250	Seizures
OMIM:300850	AGTR2	186	HP:0000708	Behavioral abnormality
OMIM:300850	AGTR2	186	HP:0000750	Delayed speech and language development
OMIM:300850	AGTR2	186	HP:0001263	Global developmental delay
OMIM:300850	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300850	AGTR2	186	HP:0000218	High palate
OMIM:300850	AGTR2	186	HP:0000486	Strabismus
OMIM:300850	AGTR2	186	HP:0000774	Narrow chest
OMIM:300850	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300850	AGTR2	186	HP:0000805	Enuresis
OMIM:300850	AGTR2	186	HP:0001252	Muscular hypotonia
OMIM:300850	ARX	170302	HP:0000582	Upslanted palpebral fissure
OMIM:300850	ARX	170302	HP:0001250	Seizures
OMIM:300850	ARX	170302	HP:0000708	Behavioral abnormality
OMIM:300850	ARX	170302	HP:0000750	Delayed speech and language development
OMIM:300850	ARX	170302	HP:0001263	Global developmental delay
OMIM:300850	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300850	ARX	170302	HP:0000218	High palate
OMIM:300850	ARX	170302	HP:0000486	Strabismus
OMIM:300850	ARX	170302	HP:0000774	Narrow chest
OMIM:300850	ARX	170302	HP:0001249	Intellectual disability
OMIM:300850	ARX	170302	HP:0000805	Enuresis
OMIM:300850	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:300850	ALG13	79868	HP:0000582	Upslanted palpebral fissure
OMIM:300850	ALG13	79868	HP:0001250	Seizures
OMIM:300850	ALG13	79868	HP:0000708	Behavioral abnormality
OMIM:300850	ALG13	79868	HP:0000750	Delayed speech and language development
OMIM:300850	ALG13	79868	HP:0001263	Global developmental delay
OMIM:300850	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300850	ALG13	79868	HP:0000218	High palate
OMIM:300850	ALG13	79868	HP:0000486	Strabismus
OMIM:300850	ALG13	79868	HP:0000774	Narrow chest
OMIM:300850	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300850	ALG13	79868	HP:0000805	Enuresis
OMIM:300850	ALG13	79868	HP:0001252	Muscular hypotonia
OMIM:300850	TSPAN7	7102	HP:0000582	Upslanted palpebral fissure
OMIM:300850	TSPAN7	7102	HP:0001250	Seizures
OMIM:300850	TSPAN7	7102	HP:0000708	Behavioral abnormality
OMIM:300850	TSPAN7	7102	HP:0000750	Delayed speech and language development
OMIM:300850	TSPAN7	7102	HP:0001263	Global developmental delay
OMIM:300850	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:300850	TSPAN7	7102	HP:0000218	High palate
OMIM:300850	TSPAN7	7102	HP:0000486	Strabismus
OMIM:300850	TSPAN7	7102	HP:0000774	Narrow chest
OMIM:300850	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300850	TSPAN7	7102	HP:0000805	Enuresis
OMIM:300850	TSPAN7	7102	HP:0001252	Muscular hypotonia
OMIM:105200	FGA	2243	HP:0003216	Generalized amyloid deposition
OMIM:105200	FGA	2243	HP:0000006	Autosomal dominant inheritance
OMIM:105200	FGA	2243	HP:0000100	Nephrotic syndrome
OMIM:105200	FGA	2243	HP:0000790	Hematuria
OMIM:105200	FGA	2243	HP:0000969	Edema
OMIM:105200	FGA	2243	HP:0000822	Hypertension
OMIM:105200	FGA	2243	HP:0001396	Cholestasis
OMIM:105200	FGA	2243	HP:0001744	Splenomegaly
OMIM:105200	FGA	2243	HP:0000093	Proteinuria
OMIM:105200	FGA	2243	HP:0000112	Nephropathy
OMIM:105200	FGA	2243	HP:0002240	Hepatomegaly
OMIM:105200	FGA	2243	HP:0000988	Skin rash
OMIM:105200	LYZ	4069	HP:0003216	Generalized amyloid deposition
OMIM:105200	LYZ	4069	HP:0000006	Autosomal dominant inheritance
OMIM:105200	LYZ	4069	HP:0000100	Nephrotic syndrome
OMIM:105200	LYZ	4069	HP:0000790	Hematuria
OMIM:105200	LYZ	4069	HP:0000969	Edema
OMIM:105200	LYZ	4069	HP:0000822	Hypertension
OMIM:105200	LYZ	4069	HP:0001396	Cholestasis
OMIM:105200	LYZ	4069	HP:0001744	Splenomegaly
OMIM:105200	LYZ	4069	HP:0000093	Proteinuria
OMIM:105200	LYZ	4069	HP:0000112	Nephropathy
OMIM:105200	LYZ	4069	HP:0002240	Hepatomegaly
OMIM:105200	LYZ	4069	HP:0000988	Skin rash
OMIM:105200	APOA1	335	HP:0003216	Generalized amyloid deposition
OMIM:105200	APOA1	335	HP:0000006	Autosomal dominant inheritance
OMIM:105200	APOA1	335	HP:0000100	Nephrotic syndrome
OMIM:105200	APOA1	335	HP:0000790	Hematuria
OMIM:105200	APOA1	335	HP:0000969	Edema
OMIM:105200	APOA1	335	HP:0000822	Hypertension
OMIM:105200	APOA1	335	HP:0001396	Cholestasis
OMIM:105200	APOA1	335	HP:0001744	Splenomegaly
OMIM:105200	APOA1	335	HP:0000093	Proteinuria
OMIM:105200	APOA1	335	HP:0000112	Nephropathy
OMIM:105200	APOA1	335	HP:0002240	Hepatomegaly
OMIM:105200	APOA1	335	HP:0000988	Skin rash
OMIM:601369	DIAPH1	1729	HP:0000360	Tinnitus
OMIM:601369	DIAPH1	1729	HP:0003676	Progressive
OMIM:601369	DIAPH1	1729	HP:0002321	Vertigo
OMIM:601369	DIAPH1	1729	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	DIAPH1	1729	HP:0011462	Young adult onset
OMIM:601369	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:601369	DIAPH1	1729	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	DIAPH1	1729	HP:0005102	Cochlear degeneration
OMIM:601369	CEACAM16	388551	HP:0000360	Tinnitus
OMIM:601369	CEACAM16	388551	HP:0003676	Progressive
OMIM:601369	CEACAM16	388551	HP:0002321	Vertigo
OMIM:601369	CEACAM16	388551	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	CEACAM16	388551	HP:0011462	Young adult onset
OMIM:601369	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:601369	CEACAM16	388551	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	CEACAM16	388551	HP:0005102	Cochlear degeneration
OMIM:601369	SLC17A8	246213	HP:0000360	Tinnitus
OMIM:601369	SLC17A8	246213	HP:0003676	Progressive
OMIM:601369	SLC17A8	246213	HP:0002321	Vertigo
OMIM:601369	SLC17A8	246213	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	SLC17A8	246213	HP:0011462	Young adult onset
OMIM:601369	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:601369	SLC17A8	246213	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	SLC17A8	246213	HP:0005102	Cochlear degeneration
OMIM:601369	TJP2	9414	HP:0000360	Tinnitus
OMIM:601369	TJP2	9414	HP:0003676	Progressive
OMIM:601369	TJP2	9414	HP:0002321	Vertigo
OMIM:601369	TJP2	9414	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	TJP2	9414	HP:0011462	Young adult onset
OMIM:601369	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:601369	TJP2	9414	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	TJP2	9414	HP:0005102	Cochlear degeneration
OMIM:601369	ACTG1	71	HP:0000360	Tinnitus
OMIM:601369	ACTG1	71	HP:0003676	Progressive
OMIM:601369	ACTG1	71	HP:0002321	Vertigo
OMIM:601369	ACTG1	71	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	ACTG1	71	HP:0011462	Young adult onset
OMIM:601369	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:601369	ACTG1	71	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	ACTG1	71	HP:0005102	Cochlear degeneration
OMIM:601369	CCDC50	152137	HP:0000360	Tinnitus
OMIM:601369	CCDC50	152137	HP:0003676	Progressive
OMIM:601369	CCDC50	152137	HP:0002321	Vertigo
OMIM:601369	CCDC50	152137	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	CCDC50	152137	HP:0011462	Young adult onset
OMIM:601369	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601369	CCDC50	152137	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	CCDC50	152137	HP:0005102	Cochlear degeneration
OMIM:601369	MIR96	407053	HP:0000360	Tinnitus
OMIM:601369	MIR96	407053	HP:0003676	Progressive
OMIM:601369	MIR96	407053	HP:0002321	Vertigo
OMIM:601369	MIR96	407053	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	MIR96	407053	HP:0011462	Young adult onset
OMIM:601369	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:601369	MIR96	407053	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	MIR96	407053	HP:0005102	Cochlear degeneration
OMIM:601369	GJB2	2706	HP:0000360	Tinnitus
OMIM:601369	GJB2	2706	HP:0003676	Progressive
OMIM:601369	GJB2	2706	HP:0002321	Vertigo
OMIM:601369	GJB2	2706	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	GJB2	2706	HP:0011462	Young adult onset
OMIM:601369	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:601369	GJB2	2706	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	GJB2	2706	HP:0005102	Cochlear degeneration
OMIM:601369	POU4F3	5459	HP:0000360	Tinnitus
OMIM:601369	POU4F3	5459	HP:0003676	Progressive
OMIM:601369	POU4F3	5459	HP:0002321	Vertigo
OMIM:601369	POU4F3	5459	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	POU4F3	5459	HP:0011462	Young adult onset
OMIM:601369	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:601369	POU4F3	5459	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	POU4F3	5459	HP:0005102	Cochlear degeneration
OMIM:601369	GJB3	2707	HP:0000360	Tinnitus
OMIM:601369	GJB3	2707	HP:0003676	Progressive
OMIM:601369	GJB3	2707	HP:0002321	Vertigo
OMIM:601369	GJB3	2707	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	GJB3	2707	HP:0011462	Young adult onset
OMIM:601369	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:601369	GJB3	2707	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	GJB3	2707	HP:0005102	Cochlear degeneration
OMIM:601369	MYH9	4627	HP:0000360	Tinnitus
OMIM:601369	MYH9	4627	HP:0003676	Progressive
OMIM:601369	MYH9	4627	HP:0002321	Vertigo
OMIM:601369	MYH9	4627	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	MYH9	4627	HP:0011462	Young adult onset
OMIM:601369	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:601369	MYH9	4627	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	MYH9	4627	HP:0005102	Cochlear degeneration
OMIM:601369	CRYM	1428	HP:0000360	Tinnitus
OMIM:601369	CRYM	1428	HP:0003676	Progressive
OMIM:601369	CRYM	1428	HP:0002321	Vertigo
OMIM:601369	CRYM	1428	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	CRYM	1428	HP:0011462	Young adult onset
OMIM:601369	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:601369	CRYM	1428	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	CRYM	1428	HP:0005102	Cochlear degeneration
OMIM:601369	COL11A2	1302	HP:0000360	Tinnitus
OMIM:601369	COL11A2	1302	HP:0003676	Progressive
OMIM:601369	COL11A2	1302	HP:0002321	Vertigo
OMIM:601369	COL11A2	1302	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	COL11A2	1302	HP:0011462	Young adult onset
OMIM:601369	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:601369	COL11A2	1302	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	COL11A2	1302	HP:0005102	Cochlear degeneration
OMIM:601369	EYA4	2070	HP:0000360	Tinnitus
OMIM:601369	EYA4	2070	HP:0003676	Progressive
OMIM:601369	EYA4	2070	HP:0002321	Vertigo
OMIM:601369	EYA4	2070	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	EYA4	2070	HP:0011462	Young adult onset
OMIM:601369	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:601369	EYA4	2070	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	EYA4	2070	HP:0005102	Cochlear degeneration
OMIM:601369	DFNA5	1687	HP:0000360	Tinnitus
OMIM:601369	DFNA5	1687	HP:0003676	Progressive
OMIM:601369	DFNA5	1687	HP:0002321	Vertigo
OMIM:601369	DFNA5	1687	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	DFNA5	1687	HP:0011462	Young adult onset
OMIM:601369	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:601369	DFNA5	1687	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	DFNA5	1687	HP:0005102	Cochlear degeneration
OMIM:601369	DIAPH3	81624	HP:0000360	Tinnitus
OMIM:601369	DIAPH3	81624	HP:0003676	Progressive
OMIM:601369	DIAPH3	81624	HP:0002321	Vertigo
OMIM:601369	DIAPH3	81624	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	DIAPH3	81624	HP:0011462	Young adult onset
OMIM:601369	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:601369	DIAPH3	81624	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	DIAPH3	81624	HP:0005102	Cochlear degeneration
OMIM:601369	COCH	1690	HP:0000360	Tinnitus
OMIM:601369	COCH	1690	HP:0003676	Progressive
OMIM:601369	COCH	1690	HP:0002321	Vertigo
OMIM:601369	COCH	1690	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	COCH	1690	HP:0011462	Young adult onset
OMIM:601369	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:601369	COCH	1690	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	COCH	1690	HP:0005102	Cochlear degeneration
OMIM:601369	TMC1	117531	HP:0000360	Tinnitus
OMIM:601369	TMC1	117531	HP:0003676	Progressive
OMIM:601369	TMC1	117531	HP:0002321	Vertigo
OMIM:601369	TMC1	117531	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	TMC1	117531	HP:0011462	Young adult onset
OMIM:601369	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:601369	TMC1	117531	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	TMC1	117531	HP:0005102	Cochlear degeneration
OMIM:601369	OSBPL2	9885	HP:0000360	Tinnitus
OMIM:601369	OSBPL2	9885	HP:0003676	Progressive
OMIM:601369	OSBPL2	9885	HP:0002321	Vertigo
OMIM:601369	OSBPL2	9885	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	OSBPL2	9885	HP:0011462	Young adult onset
OMIM:601369	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:601369	OSBPL2	9885	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	OSBPL2	9885	HP:0005102	Cochlear degeneration
OMIM:601369	SIX1	6495	HP:0000360	Tinnitus
OMIM:601369	SIX1	6495	HP:0003676	Progressive
OMIM:601369	SIX1	6495	HP:0002321	Vertigo
OMIM:601369	SIX1	6495	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	SIX1	6495	HP:0011462	Young adult onset
OMIM:601369	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:601369	SIX1	6495	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	SIX1	6495	HP:0005102	Cochlear degeneration
OMIM:601369	TECTA	7007	HP:0000360	Tinnitus
OMIM:601369	TECTA	7007	HP:0003676	Progressive
OMIM:601369	TECTA	7007	HP:0002321	Vertigo
OMIM:601369	TECTA	7007	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	TECTA	7007	HP:0011462	Young adult onset
OMIM:601369	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:601369	TECTA	7007	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	TECTA	7007	HP:0005102	Cochlear degeneration
OMIM:601369	MYO1A	4640	HP:0000360	Tinnitus
OMIM:601369	MYO1A	4640	HP:0003676	Progressive
OMIM:601369	MYO1A	4640	HP:0002321	Vertigo
OMIM:601369	MYO1A	4640	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	MYO1A	4640	HP:0011462	Young adult onset
OMIM:601369	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:601369	MYO1A	4640	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	MYO1A	4640	HP:0005102	Cochlear degeneration
OMIM:601369	MYO1C	4641	HP:0000360	Tinnitus
OMIM:601369	MYO1C	4641	HP:0003676	Progressive
OMIM:601369	MYO1C	4641	HP:0002321	Vertigo
OMIM:601369	MYO1C	4641	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	MYO1C	4641	HP:0011462	Young adult onset
OMIM:601369	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:601369	MYO1C	4641	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	MYO1C	4641	HP:0005102	Cochlear degeneration
OMIM:601369	MYO6	4646	HP:0000360	Tinnitus
OMIM:601369	MYO6	4646	HP:0003676	Progressive
OMIM:601369	MYO6	4646	HP:0002321	Vertigo
OMIM:601369	MYO6	4646	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	MYO6	4646	HP:0011462	Young adult onset
OMIM:601369	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:601369	MYO6	4646	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	MYO6	4646	HP:0005102	Cochlear degeneration
OMIM:601369	MYO7A	4647	HP:0000360	Tinnitus
OMIM:601369	MYO7A	4647	HP:0003676	Progressive
OMIM:601369	MYO7A	4647	HP:0002321	Vertigo
OMIM:601369	MYO7A	4647	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	MYO7A	4647	HP:0011462	Young adult onset
OMIM:601369	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:601369	MYO7A	4647	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	MYO7A	4647	HP:0005102	Cochlear degeneration
OMIM:601369	GRHL2	79977	HP:0000360	Tinnitus
OMIM:601369	GRHL2	79977	HP:0003676	Progressive
OMIM:601369	GRHL2	79977	HP:0002321	Vertigo
OMIM:601369	GRHL2	79977	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	GRHL2	79977	HP:0011462	Young adult onset
OMIM:601369	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:601369	GRHL2	79977	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	GRHL2	79977	HP:0005102	Cochlear degeneration
OMIM:601369	DIABLO	56616	HP:0000360	Tinnitus
OMIM:601369	DIABLO	56616	HP:0003676	Progressive
OMIM:601369	DIABLO	56616	HP:0002321	Vertigo
OMIM:601369	DIABLO	56616	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	DIABLO	56616	HP:0011462	Young adult onset
OMIM:601369	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:601369	DIABLO	56616	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	DIABLO	56616	HP:0005102	Cochlear degeneration
OMIM:601369	MYH14	79784	HP:0000360	Tinnitus
OMIM:601369	MYH14	79784	HP:0003676	Progressive
OMIM:601369	MYH14	79784	HP:0002321	Vertigo
OMIM:601369	MYH14	79784	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	MYH14	79784	HP:0011462	Young adult onset
OMIM:601369	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:601369	MYH14	79784	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	MYH14	79784	HP:0005102	Cochlear degeneration
OMIM:601369	P2RX2	22953	HP:0000360	Tinnitus
OMIM:601369	P2RX2	22953	HP:0003676	Progressive
OMIM:601369	P2RX2	22953	HP:0002321	Vertigo
OMIM:601369	P2RX2	22953	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	P2RX2	22953	HP:0011462	Young adult onset
OMIM:601369	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:601369	P2RX2	22953	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	P2RX2	22953	HP:0005102	Cochlear degeneration
OMIM:601369	WFS1	7466	HP:0000360	Tinnitus
OMIM:601369	WFS1	7466	HP:0003676	Progressive
OMIM:601369	WFS1	7466	HP:0002321	Vertigo
OMIM:601369	WFS1	7466	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	WFS1	7466	HP:0011462	Young adult onset
OMIM:601369	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:601369	WFS1	7466	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	WFS1	7466	HP:0005102	Cochlear degeneration
OMIM:601369	TNC	3371	HP:0000360	Tinnitus
OMIM:601369	TNC	3371	HP:0003676	Progressive
OMIM:601369	TNC	3371	HP:0002321	Vertigo
OMIM:601369	TNC	3371	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	TNC	3371	HP:0011462	Young adult onset
OMIM:601369	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:601369	TNC	3371	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	TNC	3371	HP:0005102	Cochlear degeneration
OMIM:601369	KCNQ4	9132	HP:0000360	Tinnitus
OMIM:601369	KCNQ4	9132	HP:0003676	Progressive
OMIM:601369	KCNQ4	9132	HP:0002321	Vertigo
OMIM:601369	KCNQ4	9132	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	KCNQ4	9132	HP:0011462	Young adult onset
OMIM:601369	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:601369	KCNQ4	9132	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	KCNQ4	9132	HP:0005102	Cochlear degeneration
OMIM:601369	HOMER2	9455	HP:0000360	Tinnitus
OMIM:601369	HOMER2	9455	HP:0003676	Progressive
OMIM:601369	HOMER2	9455	HP:0002321	Vertigo
OMIM:601369	HOMER2	9455	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	HOMER2	9455	HP:0011462	Young adult onset
OMIM:601369	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:601369	HOMER2	9455	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	HOMER2	9455	HP:0005102	Cochlear degeneration
OMIM:601369	GJB6	10804	HP:0000360	Tinnitus
OMIM:601369	GJB6	10804	HP:0003676	Progressive
OMIM:601369	GJB6	10804	HP:0002321	Vertigo
OMIM:601369	GJB6	10804	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	GJB6	10804	HP:0011462	Young adult onset
OMIM:601369	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:601369	GJB6	10804	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	GJB6	10804	HP:0005102	Cochlear degeneration
OMIM:601369	TBC1D24	57465	HP:0000360	Tinnitus
OMIM:601369	TBC1D24	57465	HP:0003676	Progressive
OMIM:601369	TBC1D24	57465	HP:0002321	Vertigo
OMIM:601369	TBC1D24	57465	HP:0009591	Abnormality of the vestibulocochlear nerve
OMIM:601369	TBC1D24	57465	HP:0011462	Young adult onset
OMIM:601369	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:601369	TBC1D24	57465	HP:0008596	Postlingual sensorineural hearing impairment
OMIM:601369	TBC1D24	57465	HP:0005102	Cochlear degeneration
OMIM:608133	RLBP1	6017	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:608133	RLBP1	6017	HP:0007830	Adult-onset night blindness
OMIM:608133	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:608133	RLBP1	6017	HP:0000512	Abnormal electroretinogram
OMIM:608133	RLBP1	6017	HP:0000533	Chorioretinal atrophy
OMIM:608133	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:608133	SPATA7	55812	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:608133	SPATA7	55812	HP:0007830	Adult-onset night blindness
OMIM:608133	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:608133	SPATA7	55812	HP:0000512	Abnormal electroretinogram
OMIM:608133	SPATA7	55812	HP:0000533	Chorioretinal atrophy
OMIM:608133	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:608133	ARL6	84100	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:608133	ARL6	84100	HP:0007830	Adult-onset night blindness
OMIM:608133	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:608133	ARL6	84100	HP:0000512	Abnormal electroretinogram
OMIM:608133	ARL6	84100	HP:0000533	Chorioretinal atrophy
OMIM:608133	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:608133	CERKL	375298	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:608133	CERKL	375298	HP:0007830	Adult-onset night blindness
OMIM:608133	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:608133	CERKL	375298	HP:0000512	Abnormal electroretinogram
OMIM:608133	CERKL	375298	HP:0000533	Chorioretinal atrophy
OMIM:608133	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PRPF31	26121	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:608133	PRPF31	26121	HP:0007830	Adult-onset night blindness
OMIM:608133	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PRPF31	26121	HP:0000512	Abnormal electroretinogram
OMIM:608133	PRPF31	26121	HP:0000533	Chorioretinal atrophy
OMIM:608133	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:608133	TTC8	123016	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:608133	TTC8	123016	HP:0007830	Adult-onset night blindness
OMIM:608133	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:608133	TTC8	123016	HP:0000512	Abnormal electroretinogram
OMIM:608133	TTC8	123016	HP:0000533	Chorioretinal atrophy
OMIM:608133	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PROM1	8842	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:608133	PROM1	8842	HP:0007830	Adult-onset night blindness
OMIM:608133	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PROM1	8842	HP:0000512	Abnormal electroretinogram
OMIM:608133	PROM1	8842	HP:0000533	Chorioretinal atrophy
OMIM:608133	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:608133	LRAT	9227	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:608133	LRAT	9227	HP:0007830	Adult-onset night blindness
OMIM:608133	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:608133	LRAT	9227	HP:0000512	Abnormal electroretinogram
OMIM:608133	LRAT	9227	HP:0000533	Chorioretinal atrophy
OMIM:608133	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:608133	IFT140	9742	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:608133	IFT140	9742	HP:0007830	Adult-onset night blindness
OMIM:608133	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:608133	IFT140	9742	HP:0000512	Abnormal electroretinogram
OMIM:608133	IFT140	9742	HP:0000533	Chorioretinal atrophy
OMIM:608133	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:608133	BEST1	7439	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:608133	BEST1	7439	HP:0007830	Adult-onset night blindness
OMIM:608133	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:608133	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:608133	BEST1	7439	HP:0000533	Chorioretinal atrophy
OMIM:608133	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:608133	NEK2	4751	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:608133	NEK2	4751	HP:0007830	Adult-onset night blindness
OMIM:608133	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:608133	NEK2	4751	HP:0000512	Abnormal electroretinogram
OMIM:608133	NEK2	4751	HP:0000533	Chorioretinal atrophy
OMIM:608133	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:608133	ARL2BP	23568	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:608133	ARL2BP	23568	HP:0007830	Adult-onset night blindness
OMIM:608133	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:608133	ARL2BP	23568	HP:0000512	Abnormal electroretinogram
OMIM:608133	ARL2BP	23568	HP:0000533	Chorioretinal atrophy
OMIM:608133	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:608133	NR2E3	10002	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:608133	NR2E3	10002	HP:0007830	Adult-onset night blindness
OMIM:608133	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:608133	NR2E3	10002	HP:0000512	Abnormal electroretinogram
OMIM:608133	NR2E3	10002	HP:0000533	Chorioretinal atrophy
OMIM:608133	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:608133	EYS	346007	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:608133	EYS	346007	HP:0007830	Adult-onset night blindness
OMIM:608133	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:608133	EYS	346007	HP:0000512	Abnormal electroretinogram
OMIM:608133	EYS	346007	HP:0000533	Chorioretinal atrophy
OMIM:608133	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:608133	MAK	4117	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:608133	MAK	4117	HP:0007830	Adult-onset night blindness
OMIM:608133	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:608133	MAK	4117	HP:0000512	Abnormal electroretinogram
OMIM:608133	MAK	4117	HP:0000533	Chorioretinal atrophy
OMIM:608133	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:608133	SAG	6295	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:608133	SAG	6295	HP:0007830	Adult-onset night blindness
OMIM:608133	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:608133	SAG	6295	HP:0000512	Abnormal electroretinogram
OMIM:608133	SAG	6295	HP:0000533	Chorioretinal atrophy
OMIM:608133	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:608133	ABCA4	24	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:608133	ABCA4	24	HP:0007830	Adult-onset night blindness
OMIM:608133	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:608133	ABCA4	24	HP:0000512	Abnormal electroretinogram
OMIM:608133	ABCA4	24	HP:0000533	Chorioretinal atrophy
OMIM:608133	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PDE6A	5145	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:608133	PDE6A	5145	HP:0007830	Adult-onset night blindness
OMIM:608133	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PDE6A	5145	HP:0000512	Abnormal electroretinogram
OMIM:608133	PDE6A	5145	HP:0000533	Chorioretinal atrophy
OMIM:608133	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PDE6G	5148	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:608133	PDE6G	5148	HP:0007830	Adult-onset night blindness
OMIM:608133	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PDE6G	5148	HP:0000512	Abnormal electroretinogram
OMIM:608133	PDE6G	5148	HP:0000533	Chorioretinal atrophy
OMIM:608133	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:608133	IMPDH1	3614	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:608133	IMPDH1	3614	HP:0007830	Adult-onset night blindness
OMIM:608133	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:608133	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
OMIM:608133	IMPDH1	3614	HP:0000533	Chorioretinal atrophy
OMIM:608133	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:608133	OFD1	8481	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:608133	OFD1	8481	HP:0007830	Adult-onset night blindness
OMIM:608133	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:608133	OFD1	8481	HP:0000512	Abnormal electroretinogram
OMIM:608133	OFD1	8481	HP:0000533	Chorioretinal atrophy
OMIM:608133	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:608133	GUCA1B	2979	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:608133	GUCA1B	2979	HP:0007830	Adult-onset night blindness
OMIM:608133	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:608133	GUCA1B	2979	HP:0000512	Abnormal electroretinogram
OMIM:608133	GUCA1B	2979	HP:0000533	Chorioretinal atrophy
OMIM:608133	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:608133	NRL	4901	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:608133	NRL	4901	HP:0007830	Adult-onset night blindness
OMIM:608133	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:608133	NRL	4901	HP:0000512	Abnormal electroretinogram
OMIM:608133	NRL	4901	HP:0000533	Chorioretinal atrophy
OMIM:608133	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PDE6B	5158	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:608133	PDE6B	5158	HP:0007830	Adult-onset night blindness
OMIM:608133	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PDE6B	5158	HP:0000512	Abnormal electroretinogram
OMIM:608133	PDE6B	5158	HP:0000533	Chorioretinal atrophy
OMIM:608133	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:608133	KLHL7	55975	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:608133	KLHL7	55975	HP:0007830	Adult-onset night blindness
OMIM:608133	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:608133	KLHL7	55975	HP:0000512	Abnormal electroretinogram
OMIM:608133	KLHL7	55975	HP:0000533	Chorioretinal atrophy
OMIM:608133	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PRPF4	9128	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:608133	PRPF4	9128	HP:0007830	Adult-onset night blindness
OMIM:608133	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PRPF4	9128	HP:0000512	Abnormal electroretinogram
OMIM:608133	PRPF4	9128	HP:0000533	Chorioretinal atrophy
OMIM:608133	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PRPF3	9129	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:608133	PRPF3	9129	HP:0007830	Adult-onset night blindness
OMIM:608133	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PRPF3	9129	HP:0000512	Abnormal electroretinogram
OMIM:608133	PRPF3	9129	HP:0000533	Chorioretinal atrophy
OMIM:608133	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:608133	FAM161A	84140	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:608133	FAM161A	84140	HP:0007830	Adult-onset night blindness
OMIM:608133	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:608133	FAM161A	84140	HP:0000512	Abnormal electroretinogram
OMIM:608133	FAM161A	84140	HP:0000533	Chorioretinal atrophy
OMIM:608133	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:608133	IFT172	26160	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:608133	IFT172	26160	HP:0007830	Adult-onset night blindness
OMIM:608133	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:608133	IFT172	26160	HP:0000512	Abnormal electroretinogram
OMIM:608133	IFT172	26160	HP:0000533	Chorioretinal atrophy
OMIM:608133	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:608133	KIZ	55857	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:608133	KIZ	55857	HP:0007830	Adult-onset night blindness
OMIM:608133	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:608133	KIZ	55857	HP:0000512	Abnormal electroretinogram
OMIM:608133	KIZ	55857	HP:0000533	Chorioretinal atrophy
OMIM:608133	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:608133	CDHR1	92211	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:608133	CDHR1	92211	HP:0007830	Adult-onset night blindness
OMIM:608133	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:608133	CDHR1	92211	HP:0000512	Abnormal electroretinogram
OMIM:608133	CDHR1	92211	HP:0000533	Chorioretinal atrophy
OMIM:608133	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:608133	ZNF408	79797	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:608133	ZNF408	79797	HP:0007830	Adult-onset night blindness
OMIM:608133	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:608133	ZNF408	79797	HP:0000512	Abnormal electroretinogram
OMIM:608133	ZNF408	79797	HP:0000533	Chorioretinal atrophy
OMIM:608133	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:608133	RBP3	5949	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:608133	RBP3	5949	HP:0007830	Adult-onset night blindness
OMIM:608133	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:608133	RBP3	5949	HP:0000512	Abnormal electroretinogram
OMIM:608133	RBP3	5949	HP:0000533	Chorioretinal atrophy
OMIM:608133	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:608133	HGSNAT	138050	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:608133	HGSNAT	138050	HP:0007830	Adult-onset night blindness
OMIM:608133	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:608133	HGSNAT	138050	HP:0000512	Abnormal electroretinogram
OMIM:608133	HGSNAT	138050	HP:0000533	Chorioretinal atrophy
OMIM:608133	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:608133	FSCN2	25794	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:608133	FSCN2	25794	HP:0007830	Adult-onset night blindness
OMIM:608133	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:608133	FSCN2	25794	HP:0000512	Abnormal electroretinogram
OMIM:608133	FSCN2	25794	HP:0000533	Chorioretinal atrophy
OMIM:608133	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PRCD	768206	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:608133	PRCD	768206	HP:0007830	Adult-onset night blindness
OMIM:608133	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PRCD	768206	HP:0000512	Abnormal electroretinogram
OMIM:608133	PRCD	768206	HP:0000533	Chorioretinal atrophy
OMIM:608133	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:608133	BBS2	583	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:608133	BBS2	583	HP:0007830	Adult-onset night blindness
OMIM:608133	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:608133	BBS2	583	HP:0000512	Abnormal electroretinogram
OMIM:608133	BBS2	583	HP:0000533	Chorioretinal atrophy
OMIM:608133	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:608133	RDH12	145226	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:608133	RDH12	145226	HP:0007830	Adult-onset night blindness
OMIM:608133	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:608133	RDH12	145226	HP:0000512	Abnormal electroretinogram
OMIM:608133	RDH12	145226	HP:0000533	Chorioretinal atrophy
OMIM:608133	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PRPH2	5961	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:608133	PRPH2	5961	HP:0007830	Adult-onset night blindness
OMIM:608133	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PRPH2	5961	HP:0000512	Abnormal electroretinogram
OMIM:608133	PRPH2	5961	HP:0000533	Chorioretinal atrophy
OMIM:608133	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:608133	DHDDS	79947	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:608133	DHDDS	79947	HP:0007830	Adult-onset night blindness
OMIM:608133	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:608133	DHDDS	79947	HP:0000512	Abnormal electroretinogram
OMIM:608133	DHDDS	79947	HP:0000533	Chorioretinal atrophy
OMIM:608133	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:608133	ROM1	6094	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:608133	ROM1	6094	HP:0007830	Adult-onset night blindness
OMIM:608133	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:608133	ROM1	6094	HP:0000512	Abnormal electroretinogram
OMIM:608133	ROM1	6094	HP:0000533	Chorioretinal atrophy
OMIM:608133	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:608133	C2ORF71	388939	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:608133	C2ORF71	388939	HP:0007830	Adult-onset night blindness
OMIM:608133	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:608133	C2ORF71	388939	HP:0000512	Abnormal electroretinogram
OMIM:608133	C2ORF71	388939	HP:0000533	Chorioretinal atrophy
OMIM:608133	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:608133	RP9	6100	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:608133	RP9	6100	HP:0007830	Adult-onset night blindness
OMIM:608133	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:608133	RP9	6100	HP:0000512	Abnormal electroretinogram
OMIM:608133	RP9	6100	HP:0000533	Chorioretinal atrophy
OMIM:608133	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PRPF6	24148	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:608133	PRPF6	24148	HP:0007830	Adult-onset night blindness
OMIM:608133	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PRPF6	24148	HP:0000512	Abnormal electroretinogram
OMIM:608133	PRPF6	24148	HP:0000533	Chorioretinal atrophy
OMIM:608133	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:608133	RP1	6101	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:608133	RP1	6101	HP:0007830	Adult-onset night blindness
OMIM:608133	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:608133	RP1	6101	HP:0000512	Abnormal electroretinogram
OMIM:608133	RP1	6101	HP:0000533	Chorioretinal atrophy
OMIM:608133	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:608133	RP2	6102	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:608133	RP2	6102	HP:0007830	Adult-onset night blindness
OMIM:608133	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:608133	RP2	6102	HP:0000512	Abnormal electroretinogram
OMIM:608133	RP2	6102	HP:0000533	Chorioretinal atrophy
OMIM:608133	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:608133	RPGR	6103	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:608133	RPGR	6103	HP:0007830	Adult-onset night blindness
OMIM:608133	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:608133	RPGR	6103	HP:0000512	Abnormal electroretinogram
OMIM:608133	RPGR	6103	HP:0000533	Chorioretinal atrophy
OMIM:608133	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:608133	SEMA4A	64218	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:608133	SEMA4A	64218	HP:0007830	Adult-onset night blindness
OMIM:608133	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:608133	SEMA4A	64218	HP:0000512	Abnormal electroretinogram
OMIM:608133	SEMA4A	64218	HP:0000533	Chorioretinal atrophy
OMIM:608133	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:608133	C8ORF37	157657	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:608133	C8ORF37	157657	HP:0007830	Adult-onset night blindness
OMIM:608133	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:608133	C8ORF37	157657	HP:0000512	Abnormal electroretinogram
OMIM:608133	C8ORF37	157657	HP:0000533	Chorioretinal atrophy
OMIM:608133	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:608133	IDH3B	3420	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:608133	IDH3B	3420	HP:0007830	Adult-onset night blindness
OMIM:608133	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:608133	IDH3B	3420	HP:0000512	Abnormal electroretinogram
OMIM:608133	IDH3B	3420	HP:0000533	Chorioretinal atrophy
OMIM:608133	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:608133	MERTK	10461	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:608133	MERTK	10461	HP:0007830	Adult-onset night blindness
OMIM:608133	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:608133	MERTK	10461	HP:0000512	Abnormal electroretinogram
OMIM:608133	MERTK	10461	HP:0000533	Chorioretinal atrophy
OMIM:608133	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:608133	PRPF8	10594	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:608133	PRPF8	10594	HP:0007830	Adult-onset night blindness
OMIM:608133	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:608133	PRPF8	10594	HP:0000512	Abnormal electroretinogram
OMIM:608133	PRPF8	10594	HP:0000533	Chorioretinal atrophy
OMIM:608133	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:608133	TOPORS	10210	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:608133	TOPORS	10210	HP:0007830	Adult-onset night blindness
OMIM:608133	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:608133	TOPORS	10210	HP:0000512	Abnormal electroretinogram
OMIM:608133	TOPORS	10210	HP:0000533	Chorioretinal atrophy
OMIM:608133	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:608133	USH2A	7399	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:608133	USH2A	7399	HP:0007830	Adult-onset night blindness
OMIM:608133	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:608133	USH2A	7399	HP:0000512	Abnormal electroretinogram
OMIM:608133	USH2A	7399	HP:0000533	Chorioretinal atrophy
OMIM:608133	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:608133	RPE65	6121	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:608133	RPE65	6121	HP:0007830	Adult-onset night blindness
OMIM:608133	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:608133	RPE65	6121	HP:0000512	Abnormal electroretinogram
OMIM:608133	RPE65	6121	HP:0000533	Chorioretinal atrophy
OMIM:608133	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:608133	CLRN1	7401	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:608133	CLRN1	7401	HP:0007830	Adult-onset night blindness
OMIM:608133	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:608133	CLRN1	7401	HP:0000512	Abnormal electroretinogram
OMIM:608133	CLRN1	7401	HP:0000533	Chorioretinal atrophy
OMIM:608133	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:608133	CNGB1	1258	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:608133	CNGB1	1258	HP:0007830	Adult-onset night blindness
OMIM:608133	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:608133	CNGB1	1258	HP:0000512	Abnormal electroretinogram
OMIM:608133	CNGB1	1258	HP:0000533	Chorioretinal atrophy
OMIM:608133	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:608133	RGR	5995	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:608133	RGR	5995	HP:0007830	Adult-onset night blindness
OMIM:608133	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:608133	RGR	5995	HP:0000512	Abnormal electroretinogram
OMIM:608133	RGR	5995	HP:0000533	Chorioretinal atrophy
OMIM:608133	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:608133	CNGA1	1259	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:608133	CNGA1	1259	HP:0007830	Adult-onset night blindness
OMIM:608133	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:608133	CNGA1	1259	HP:0000512	Abnormal electroretinogram
OMIM:608133	CNGA1	1259	HP:0000533	Chorioretinal atrophy
OMIM:608133	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:608133	TUB	7275	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:608133	TUB	7275	HP:0007830	Adult-onset night blindness
OMIM:608133	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:608133	TUB	7275	HP:0000512	Abnormal electroretinogram
OMIM:608133	TUB	7275	HP:0000533	Chorioretinal atrophy
OMIM:608133	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:608133	SNRNP200	23020	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:608133	SNRNP200	23020	HP:0007830	Adult-onset night blindness
OMIM:608133	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:608133	SNRNP200	23020	HP:0000512	Abnormal electroretinogram
OMIM:608133	SNRNP200	23020	HP:0000533	Chorioretinal atrophy
OMIM:608133	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:608133	SLC7A14	57709	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:608133	SLC7A14	57709	HP:0007830	Adult-onset night blindness
OMIM:608133	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:608133	SLC7A14	57709	HP:0000512	Abnormal electroretinogram
OMIM:608133	SLC7A14	57709	HP:0000533	Chorioretinal atrophy
OMIM:608133	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:608133	TULP1	7287	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:608133	TULP1	7287	HP:0007830	Adult-onset night blindness
OMIM:608133	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:608133	TULP1	7287	HP:0000512	Abnormal electroretinogram
OMIM:608133	TULP1	7287	HP:0000533	Chorioretinal atrophy
OMIM:608133	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:608133	RHO	6010	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:608133	RHO	6010	HP:0007830	Adult-onset night blindness
OMIM:608133	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:608133	RHO	6010	HP:0000512	Abnormal electroretinogram
OMIM:608133	RHO	6010	HP:0000533	Chorioretinal atrophy
OMIM:608133	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:608133	CA4	762	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:608133	CA4	762	HP:0007830	Adult-onset night blindness
OMIM:608133	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:608133	CA4	762	HP:0000512	Abnormal electroretinogram
OMIM:608133	CA4	762	HP:0000533	Chorioretinal atrophy
OMIM:608133	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:608133	CRB1	23418	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:608133	CRB1	23418	HP:0007830	Adult-onset night blindness
OMIM:608133	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:608133	CRB1	23418	HP:0000512	Abnormal electroretinogram
OMIM:608133	CRB1	23418	HP:0000533	Chorioretinal atrophy
OMIM:608133	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:608133	IMPG2	50939	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:608133	IMPG2	50939	HP:0007830	Adult-onset night blindness
OMIM:608133	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:608133	IMPG2	50939	HP:0000512	Abnormal electroretinogram
OMIM:608133	IMPG2	50939	HP:0000533	Chorioretinal atrophy
OMIM:608133	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:608133	ZNF513	130557	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:608133	ZNF513	130557	HP:0007830	Adult-onset night blindness
OMIM:608133	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:608133	ZNF513	130557	HP:0000512	Abnormal electroretinogram
OMIM:608133	ZNF513	130557	HP:0000533	Chorioretinal atrophy
OMIM:608133	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:608133	CRX	1406	HP:0001146	Pigmentary retinal degeneration
OMIM:608133	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:608133	CRX	1406	HP:0007830	Adult-onset night blindness
OMIM:608133	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:608133	CRX	1406	HP:0000512	Abnormal electroretinogram
OMIM:608133	CRX	1406	HP:0000533	Chorioretinal atrophy
OMIM:608133	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:164300	PABPN1	8106	HP:0000006	Autosomal dominant inheritance
OMIM:164300	PABPN1	8106	HP:0000508	Ptosis
OMIM:164300	PABPN1	8106	HP:0001260	Dysarthria
OMIM:164300	PABPN1	8106	HP:0003690	Limb muscle weakness
OMIM:164300	PABPN1	8106	HP:0000467	Neck muscle weakness
OMIM:164300	PABPN1	8106	HP:0002015	Dysphagia
OMIM:164300	PABPN1	8106	HP:0002460	Distal muscle weakness
OMIM:164300	PABPN1	8106	HP:0010628	Facial palsy
OMIM:164300	PABPN1	8106	HP:0003701	Proximal muscle weakness
OMIM:164300	PABPN1	8106	HP:0000298	Mask-like facies
OMIM:164300	PABPN1	8106	HP:0000600	Abnormality of the pharynx
OMIM:164300	PABPN1	8106	HP:0003581	Adult onset
OMIM:164300	PABPN1	8106	HP:0003676	Progressive
OMIM:164300	PABPN1	8106	HP:0001288	Gait disturbance
OMIM:164300	PABPN1	8106	HP:0003202	Skeletal muscle atrophy
OMIM:164300	PABPN1	8106	HP:0000597	Ophthalmoparesis
OMIM:164300	PABPN1	8106	HP:0003198	Myopathy
OMIM:143860	CA12	771	HP:0000006	Autosomal dominant inheritance
OMIM:143860	CA12	771	HP:0002153	Hyperkalemia
OMIM:143860	CA12	771	HP:0001508	Failure to thrive
OMIM:143860	CA12	771	HP:0000007	Autosomal recessive inheritance
OMIM:143860	CA12	771	HP:0001944	Dehydration
OMIM:143860	CA12	771	HP:0011968	Feeding difficulties
OMIM:143860	CA12	771	HP:0003593	Infantile onset
OMIM:259730	CA2	760	HP:0000572	Visual loss
OMIM:259730	CA2	760	HP:0002135	Basal ganglia calcification
OMIM:259730	CA2	760	HP:0004437	Cranial hyperostosis
OMIM:259730	CA2	760	HP:0001903	Anemia
OMIM:259730	CA2	760	HP:0000689	Dental malocclusion
OMIM:259730	CA2	760	HP:0001249	Intellectual disability
OMIM:259730	CA2	760	HP:0004322	Short stature
OMIM:259730	CA2	760	HP:0000007	Autosomal recessive inheritance
OMIM:259730	CA2	760	HP:0001433	Hepatosplenomegaly
OMIM:613319	ANO5	203859	HP:0003828	Variable expressivity
OMIM:613319	ANO5	203859	HP:0003560	Muscular dystrophy
OMIM:613319	ANO5	203859	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613319	ANO5	203859	HP:0003581	Adult onset
OMIM:613319	ANO5	203859	HP:0002460	Distal muscle weakness
OMIM:613319	ANO5	203859	HP:0000007	Autosomal recessive inheritance
OMIM:214450	MYO5A	4644	HP:0001250	Seizures
OMIM:214450	MYO5A	4644	HP:0005599	Hypopigmentation of hair
OMIM:214450	MYO5A	4644	HP:0001010	Hypopigmentation of the skin
OMIM:214450	MYO5A	4644	HP:0007513	Generalized hypopigmentation
OMIM:214450	MYO5A	4644	HP:0100543	Cognitive impairment
OMIM:214450	MYO5A	4644	HP:0000007	Autosomal recessive inheritance
OMIM:214450	MYO5A	4644	HP:0003119	Abnormality of lipid metabolism
OMIM:214450	MYO5A	4644	HP:0003593	Infantile onset
OMIM:214450	MYO5A	4644	HP:0002216	Premature graying of hair
OMIM:214450	MYO5A	4644	HP:0001252	Muscular hypotonia
OMIM:214450	MYO5A	4644	HP:0001276	Hypertonia
OMIM:214450	MYO5A	4644	HP:0002311	Incoordination
OMIM:214450	MYO5A	4644	HP:0100022	Abnormality of movement
OMIM:214450	MYO5A	4644	HP:0001107	Ocular albinism
OMIM:214450	MYO5A	4644	HP:0001249	Intellectual disability
OMIM:214450	MYO5A	4644	HP:0002514	Cerebral calcification
OMIM:214450	MYO5A	4644	HP:0001263	Global developmental delay
OMIM:214450	MYO5A	4644	HP:0000639	Nystagmus
OMIM:253280	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:253280	B4GAT1	11041	HP:0002353	EEG abnormality
OMIM:253280	B4GAT1	11041	HP:0007973	Retinal dysplasia
OMIM:253280	B4GAT1	11041	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	B4GAT1	11041	HP:0001336	Myoclonus
OMIM:253280	B4GAT1	11041	HP:0001257	Spasticity
OMIM:253280	B4GAT1	11041	HP:0000589	Coloboma
OMIM:253280	B4GAT1	11041	HP:0002187	Intellectual disability, profound
OMIM:253280	B4GAT1	11041	HP:0003812	Phenotypic variability
OMIM:253280	B4GAT1	11041	HP:0000557	Buphthalmos
OMIM:253280	B4GAT1	11041	HP:0002350	Cerebellar cyst
OMIM:253280	B4GAT1	11041	HP:0000568	Microphthalmia
OMIM:253280	B4GAT1	11041	HP:0003577	Congenital onset
OMIM:253280	B4GAT1	11041	HP:0001290	Generalized hypotonia
OMIM:253280	B4GAT1	11041	HP:0003324	Generalized muscle weakness
OMIM:253280	B4GAT1	11041	HP:0003194	Short nasal bridge
OMIM:253280	B4GAT1	11041	HP:0001302	Pachygyria
OMIM:253280	B4GAT1	11041	HP:0001425	Heterogeneous
OMIM:253280	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:253280	B4GAT1	11041	HP:0007770	Hypoplasia of the retina
OMIM:253280	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	B4GAT1	11041	HP:0001324	Muscle weakness
OMIM:253280	B4GAT1	11041	HP:0000347	Micrognathia
OMIM:253280	B4GAT1	11041	HP:0001250	Seizures
OMIM:253280	B4GAT1	11041	HP:0000648	Optic atrophy
OMIM:253280	B4GAT1	11041	HP:0000232	Everted lower lip vermilion
OMIM:253280	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
OMIM:253280	B4GAT1	11041	HP:0000518	Cataract
OMIM:253280	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:253280	B4GAT1	11041	HP:0002126	Polymicrogyria
OMIM:253280	B4GAT1	11041	HP:0011344	Severe global developmental delay
OMIM:253280	B4GAT1	11041	HP:0000980	Pallor
OMIM:253280	B4GAT1	11041	HP:0011800	Hypoplasia of midface
OMIM:253280	B4GAT1	11041	HP:0000639	Nystagmus
OMIM:253280	B4GAT1	11041	HP:0006829	Severe muscular hypotonia
OMIM:253280	B4GAT1	11041	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	B4GAT1	11041	HP:0001105	Retinal atrophy
OMIM:253280	B4GAT1	11041	HP:0000252	Microcephaly
OMIM:253280	B4GAT1	11041	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	B4GAT1	11041	HP:0000550	Undetectable electroretinogram
OMIM:253280	B4GAT1	11041	HP:0000486	Strabismus
OMIM:253280	B4GAT1	11041	HP:0007738	Uncontrolled eye movements
OMIM:253280	B4GAT1	11041	HP:0007033	Cerebellar dysplasia
OMIM:253280	B4GAT1	11041	HP:0000485	Megalocornea
OMIM:253280	B4GAT1	11041	HP:0010864	Intellectual disability, severe
OMIM:253280	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:253280	B4GAT1	11041	HP:0000272	Malar flattening
OMIM:253280	B4GAT1	11041	HP:0002119	Ventriculomegaly
OMIM:253280	B4GAT1	11041	HP:0007759	Opacification of the corneal stroma
OMIM:253280	B4GAT1	11041	HP:0008012	Congenital myopia
OMIM:253280	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:253280	POMT2	29954	HP:0002353	EEG abnormality
OMIM:253280	POMT2	29954	HP:0007973	Retinal dysplasia
OMIM:253280	POMT2	29954	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	POMT2	29954	HP:0001336	Myoclonus
OMIM:253280	POMT2	29954	HP:0001257	Spasticity
OMIM:253280	POMT2	29954	HP:0000589	Coloboma
OMIM:253280	POMT2	29954	HP:0002187	Intellectual disability, profound
OMIM:253280	POMT2	29954	HP:0003812	Phenotypic variability
OMIM:253280	POMT2	29954	HP:0000557	Buphthalmos
OMIM:253280	POMT2	29954	HP:0002350	Cerebellar cyst
OMIM:253280	POMT2	29954	HP:0000568	Microphthalmia
OMIM:253280	POMT2	29954	HP:0003577	Congenital onset
OMIM:253280	POMT2	29954	HP:0001290	Generalized hypotonia
OMIM:253280	POMT2	29954	HP:0003324	Generalized muscle weakness
OMIM:253280	POMT2	29954	HP:0003194	Short nasal bridge
OMIM:253280	POMT2	29954	HP:0001302	Pachygyria
OMIM:253280	POMT2	29954	HP:0001425	Heterogeneous
OMIM:253280	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:253280	POMT2	29954	HP:0007770	Hypoplasia of the retina
OMIM:253280	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	POMT2	29954	HP:0001324	Muscle weakness
OMIM:253280	POMT2	29954	HP:0000347	Micrognathia
OMIM:253280	POMT2	29954	HP:0001250	Seizures
OMIM:253280	POMT2	29954	HP:0000648	Optic atrophy
OMIM:253280	POMT2	29954	HP:0000232	Everted lower lip vermilion
OMIM:253280	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:253280	POMT2	29954	HP:0000518	Cataract
OMIM:253280	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:253280	POMT2	29954	HP:0002126	Polymicrogyria
OMIM:253280	POMT2	29954	HP:0011344	Severe global developmental delay
OMIM:253280	POMT2	29954	HP:0000980	Pallor
OMIM:253280	POMT2	29954	HP:0011800	Hypoplasia of midface
OMIM:253280	POMT2	29954	HP:0000639	Nystagmus
OMIM:253280	POMT2	29954	HP:0006829	Severe muscular hypotonia
OMIM:253280	POMT2	29954	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	POMT2	29954	HP:0001105	Retinal atrophy
OMIM:253280	POMT2	29954	HP:0000252	Microcephaly
OMIM:253280	POMT2	29954	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	POMT2	29954	HP:0000550	Undetectable electroretinogram
OMIM:253280	POMT2	29954	HP:0000486	Strabismus
OMIM:253280	POMT2	29954	HP:0007738	Uncontrolled eye movements
OMIM:253280	POMT2	29954	HP:0007033	Cerebellar dysplasia
OMIM:253280	POMT2	29954	HP:0000485	Megalocornea
OMIM:253280	POMT2	29954	HP:0010864	Intellectual disability, severe
OMIM:253280	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:253280	POMT2	29954	HP:0000272	Malar flattening
OMIM:253280	POMT2	29954	HP:0002119	Ventriculomegaly
OMIM:253280	POMT2	29954	HP:0007759	Opacification of the corneal stroma
OMIM:253280	POMT2	29954	HP:0008012	Congenital myopia
OMIM:253280	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:253280	COL4A1	1282	HP:0002353	EEG abnormality
OMIM:253280	COL4A1	1282	HP:0007973	Retinal dysplasia
OMIM:253280	COL4A1	1282	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	COL4A1	1282	HP:0001336	Myoclonus
OMIM:253280	COL4A1	1282	HP:0001257	Spasticity
OMIM:253280	COL4A1	1282	HP:0000589	Coloboma
OMIM:253280	COL4A1	1282	HP:0002187	Intellectual disability, profound
OMIM:253280	COL4A1	1282	HP:0003812	Phenotypic variability
OMIM:253280	COL4A1	1282	HP:0000557	Buphthalmos
OMIM:253280	COL4A1	1282	HP:0002350	Cerebellar cyst
OMIM:253280	COL4A1	1282	HP:0000568	Microphthalmia
OMIM:253280	COL4A1	1282	HP:0003577	Congenital onset
OMIM:253280	COL4A1	1282	HP:0001290	Generalized hypotonia
OMIM:253280	COL4A1	1282	HP:0003324	Generalized muscle weakness
OMIM:253280	COL4A1	1282	HP:0003194	Short nasal bridge
OMIM:253280	COL4A1	1282	HP:0001302	Pachygyria
OMIM:253280	COL4A1	1282	HP:0001425	Heterogeneous
OMIM:253280	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:253280	COL4A1	1282	HP:0007770	Hypoplasia of the retina
OMIM:253280	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	COL4A1	1282	HP:0001324	Muscle weakness
OMIM:253280	COL4A1	1282	HP:0000347	Micrognathia
OMIM:253280	COL4A1	1282	HP:0001250	Seizures
OMIM:253280	COL4A1	1282	HP:0000648	Optic atrophy
OMIM:253280	COL4A1	1282	HP:0000232	Everted lower lip vermilion
OMIM:253280	COL4A1	1282	HP:0001321	Cerebellar hypoplasia
OMIM:253280	COL4A1	1282	HP:0000518	Cataract
OMIM:253280	COL4A1	1282	HP:0003560	Muscular dystrophy
OMIM:253280	COL4A1	1282	HP:0002126	Polymicrogyria
OMIM:253280	COL4A1	1282	HP:0011344	Severe global developmental delay
OMIM:253280	COL4A1	1282	HP:0000980	Pallor
OMIM:253280	COL4A1	1282	HP:0011800	Hypoplasia of midface
OMIM:253280	COL4A1	1282	HP:0000639	Nystagmus
OMIM:253280	COL4A1	1282	HP:0006829	Severe muscular hypotonia
OMIM:253280	COL4A1	1282	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	COL4A1	1282	HP:0001105	Retinal atrophy
OMIM:253280	COL4A1	1282	HP:0000252	Microcephaly
OMIM:253280	COL4A1	1282	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	COL4A1	1282	HP:0000550	Undetectable electroretinogram
OMIM:253280	COL4A1	1282	HP:0000486	Strabismus
OMIM:253280	COL4A1	1282	HP:0007738	Uncontrolled eye movements
OMIM:253280	COL4A1	1282	HP:0007033	Cerebellar dysplasia
OMIM:253280	COL4A1	1282	HP:0000485	Megalocornea
OMIM:253280	COL4A1	1282	HP:0010864	Intellectual disability, severe
OMIM:253280	COL4A1	1282	HP:0000007	Autosomal recessive inheritance
OMIM:253280	COL4A1	1282	HP:0000272	Malar flattening
OMIM:253280	COL4A1	1282	HP:0002119	Ventriculomegaly
OMIM:253280	COL4A1	1282	HP:0007759	Opacification of the corneal stroma
OMIM:253280	COL4A1	1282	HP:0008012	Congenital myopia
OMIM:253280	POMK	84197	HP:0000238	Hydrocephalus
OMIM:253280	POMK	84197	HP:0002353	EEG abnormality
OMIM:253280	POMK	84197	HP:0007973	Retinal dysplasia
OMIM:253280	POMK	84197	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	POMK	84197	HP:0001336	Myoclonus
OMIM:253280	POMK	84197	HP:0001257	Spasticity
OMIM:253280	POMK	84197	HP:0000589	Coloboma
OMIM:253280	POMK	84197	HP:0002187	Intellectual disability, profound
OMIM:253280	POMK	84197	HP:0003812	Phenotypic variability
OMIM:253280	POMK	84197	HP:0000557	Buphthalmos
OMIM:253280	POMK	84197	HP:0002350	Cerebellar cyst
OMIM:253280	POMK	84197	HP:0000568	Microphthalmia
OMIM:253280	POMK	84197	HP:0003577	Congenital onset
OMIM:253280	POMK	84197	HP:0001290	Generalized hypotonia
OMIM:253280	POMK	84197	HP:0003324	Generalized muscle weakness
OMIM:253280	POMK	84197	HP:0003194	Short nasal bridge
OMIM:253280	POMK	84197	HP:0001302	Pachygyria
OMIM:253280	POMK	84197	HP:0001425	Heterogeneous
OMIM:253280	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:253280	POMK	84197	HP:0007770	Hypoplasia of the retina
OMIM:253280	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	POMK	84197	HP:0001324	Muscle weakness
OMIM:253280	POMK	84197	HP:0000347	Micrognathia
OMIM:253280	POMK	84197	HP:0001250	Seizures
OMIM:253280	POMK	84197	HP:0000648	Optic atrophy
OMIM:253280	POMK	84197	HP:0000232	Everted lower lip vermilion
OMIM:253280	POMK	84197	HP:0001321	Cerebellar hypoplasia
OMIM:253280	POMK	84197	HP:0000518	Cataract
OMIM:253280	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:253280	POMK	84197	HP:0002126	Polymicrogyria
OMIM:253280	POMK	84197	HP:0011344	Severe global developmental delay
OMIM:253280	POMK	84197	HP:0000980	Pallor
OMIM:253280	POMK	84197	HP:0011800	Hypoplasia of midface
OMIM:253280	POMK	84197	HP:0000639	Nystagmus
OMIM:253280	POMK	84197	HP:0006829	Severe muscular hypotonia
OMIM:253280	POMK	84197	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	POMK	84197	HP:0001105	Retinal atrophy
OMIM:253280	POMK	84197	HP:0000252	Microcephaly
OMIM:253280	POMK	84197	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	POMK	84197	HP:0000550	Undetectable electroretinogram
OMIM:253280	POMK	84197	HP:0000486	Strabismus
OMIM:253280	POMK	84197	HP:0007738	Uncontrolled eye movements
OMIM:253280	POMK	84197	HP:0007033	Cerebellar dysplasia
OMIM:253280	POMK	84197	HP:0000485	Megalocornea
OMIM:253280	POMK	84197	HP:0010864	Intellectual disability, severe
OMIM:253280	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:253280	POMK	84197	HP:0000272	Malar flattening
OMIM:253280	POMK	84197	HP:0002119	Ventriculomegaly
OMIM:253280	POMK	84197	HP:0007759	Opacification of the corneal stroma
OMIM:253280	POMK	84197	HP:0008012	Congenital myopia
OMIM:253280	GMPPB	29925	HP:0000238	Hydrocephalus
OMIM:253280	GMPPB	29925	HP:0002353	EEG abnormality
OMIM:253280	GMPPB	29925	HP:0007973	Retinal dysplasia
OMIM:253280	GMPPB	29925	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	GMPPB	29925	HP:0001336	Myoclonus
OMIM:253280	GMPPB	29925	HP:0001257	Spasticity
OMIM:253280	GMPPB	29925	HP:0000589	Coloboma
OMIM:253280	GMPPB	29925	HP:0002187	Intellectual disability, profound
OMIM:253280	GMPPB	29925	HP:0003812	Phenotypic variability
OMIM:253280	GMPPB	29925	HP:0000557	Buphthalmos
OMIM:253280	GMPPB	29925	HP:0002350	Cerebellar cyst
OMIM:253280	GMPPB	29925	HP:0000568	Microphthalmia
OMIM:253280	GMPPB	29925	HP:0003577	Congenital onset
OMIM:253280	GMPPB	29925	HP:0001290	Generalized hypotonia
OMIM:253280	GMPPB	29925	HP:0003324	Generalized muscle weakness
OMIM:253280	GMPPB	29925	HP:0003194	Short nasal bridge
OMIM:253280	GMPPB	29925	HP:0001302	Pachygyria
OMIM:253280	GMPPB	29925	HP:0001425	Heterogeneous
OMIM:253280	GMPPB	29925	HP:0007260	Type II lissencephaly
OMIM:253280	GMPPB	29925	HP:0007770	Hypoplasia of the retina
OMIM:253280	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	GMPPB	29925	HP:0001324	Muscle weakness
OMIM:253280	GMPPB	29925	HP:0000347	Micrognathia
OMIM:253280	GMPPB	29925	HP:0001250	Seizures
OMIM:253280	GMPPB	29925	HP:0000648	Optic atrophy
OMIM:253280	GMPPB	29925	HP:0000232	Everted lower lip vermilion
OMIM:253280	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:253280	GMPPB	29925	HP:0000518	Cataract
OMIM:253280	GMPPB	29925	HP:0003560	Muscular dystrophy
OMIM:253280	GMPPB	29925	HP:0002126	Polymicrogyria
OMIM:253280	GMPPB	29925	HP:0011344	Severe global developmental delay
OMIM:253280	GMPPB	29925	HP:0000980	Pallor
OMIM:253280	GMPPB	29925	HP:0011800	Hypoplasia of midface
OMIM:253280	GMPPB	29925	HP:0000639	Nystagmus
OMIM:253280	GMPPB	29925	HP:0006829	Severe muscular hypotonia
OMIM:253280	GMPPB	29925	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	GMPPB	29925	HP:0001105	Retinal atrophy
OMIM:253280	GMPPB	29925	HP:0000252	Microcephaly
OMIM:253280	GMPPB	29925	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	GMPPB	29925	HP:0000550	Undetectable electroretinogram
OMIM:253280	GMPPB	29925	HP:0000486	Strabismus
OMIM:253280	GMPPB	29925	HP:0007738	Uncontrolled eye movements
OMIM:253280	GMPPB	29925	HP:0007033	Cerebellar dysplasia
OMIM:253280	GMPPB	29925	HP:0000485	Megalocornea
OMIM:253280	GMPPB	29925	HP:0010864	Intellectual disability, severe
OMIM:253280	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:253280	GMPPB	29925	HP:0000272	Malar flattening
OMIM:253280	GMPPB	29925	HP:0002119	Ventriculomegaly
OMIM:253280	GMPPB	29925	HP:0007759	Opacification of the corneal stroma
OMIM:253280	GMPPB	29925	HP:0008012	Congenital myopia
OMIM:253280	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:253280	DAG1	1605	HP:0002353	EEG abnormality
OMIM:253280	DAG1	1605	HP:0007973	Retinal dysplasia
OMIM:253280	DAG1	1605	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	DAG1	1605	HP:0001336	Myoclonus
OMIM:253280	DAG1	1605	HP:0001257	Spasticity
OMIM:253280	DAG1	1605	HP:0000589	Coloboma
OMIM:253280	DAG1	1605	HP:0002187	Intellectual disability, profound
OMIM:253280	DAG1	1605	HP:0003812	Phenotypic variability
OMIM:253280	DAG1	1605	HP:0000557	Buphthalmos
OMIM:253280	DAG1	1605	HP:0002350	Cerebellar cyst
OMIM:253280	DAG1	1605	HP:0000568	Microphthalmia
OMIM:253280	DAG1	1605	HP:0003577	Congenital onset
OMIM:253280	DAG1	1605	HP:0001290	Generalized hypotonia
OMIM:253280	DAG1	1605	HP:0003324	Generalized muscle weakness
OMIM:253280	DAG1	1605	HP:0003194	Short nasal bridge
OMIM:253280	DAG1	1605	HP:0001302	Pachygyria
OMIM:253280	DAG1	1605	HP:0001425	Heterogeneous
OMIM:253280	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:253280	DAG1	1605	HP:0007770	Hypoplasia of the retina
OMIM:253280	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	DAG1	1605	HP:0001324	Muscle weakness
OMIM:253280	DAG1	1605	HP:0000347	Micrognathia
OMIM:253280	DAG1	1605	HP:0001250	Seizures
OMIM:253280	DAG1	1605	HP:0000648	Optic atrophy
OMIM:253280	DAG1	1605	HP:0000232	Everted lower lip vermilion
OMIM:253280	DAG1	1605	HP:0001321	Cerebellar hypoplasia
OMIM:253280	DAG1	1605	HP:0000518	Cataract
OMIM:253280	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:253280	DAG1	1605	HP:0002126	Polymicrogyria
OMIM:253280	DAG1	1605	HP:0011344	Severe global developmental delay
OMIM:253280	DAG1	1605	HP:0000980	Pallor
OMIM:253280	DAG1	1605	HP:0011800	Hypoplasia of midface
OMIM:253280	DAG1	1605	HP:0000639	Nystagmus
OMIM:253280	DAG1	1605	HP:0006829	Severe muscular hypotonia
OMIM:253280	DAG1	1605	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	DAG1	1605	HP:0001105	Retinal atrophy
OMIM:253280	DAG1	1605	HP:0000252	Microcephaly
OMIM:253280	DAG1	1605	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	DAG1	1605	HP:0000550	Undetectable electroretinogram
OMIM:253280	DAG1	1605	HP:0000486	Strabismus
OMIM:253280	DAG1	1605	HP:0007738	Uncontrolled eye movements
OMIM:253280	DAG1	1605	HP:0007033	Cerebellar dysplasia
OMIM:253280	DAG1	1605	HP:0000485	Megalocornea
OMIM:253280	DAG1	1605	HP:0010864	Intellectual disability, severe
OMIM:253280	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:253280	DAG1	1605	HP:0000272	Malar flattening
OMIM:253280	DAG1	1605	HP:0002119	Ventriculomegaly
OMIM:253280	DAG1	1605	HP:0007759	Opacification of the corneal stroma
OMIM:253280	DAG1	1605	HP:0008012	Congenital myopia
OMIM:253280	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:253280	POMGNT1	55624	HP:0002353	EEG abnormality
OMIM:253280	POMGNT1	55624	HP:0007973	Retinal dysplasia
OMIM:253280	POMGNT1	55624	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	POMGNT1	55624	HP:0001336	Myoclonus
OMIM:253280	POMGNT1	55624	HP:0001257	Spasticity
OMIM:253280	POMGNT1	55624	HP:0000589	Coloboma
OMIM:253280	POMGNT1	55624	HP:0002187	Intellectual disability, profound
OMIM:253280	POMGNT1	55624	HP:0003812	Phenotypic variability
OMIM:253280	POMGNT1	55624	HP:0000557	Buphthalmos
OMIM:253280	POMGNT1	55624	HP:0002350	Cerebellar cyst
OMIM:253280	POMGNT1	55624	HP:0000568	Microphthalmia
OMIM:253280	POMGNT1	55624	HP:0003577	Congenital onset
OMIM:253280	POMGNT1	55624	HP:0001290	Generalized hypotonia
OMIM:253280	POMGNT1	55624	HP:0003324	Generalized muscle weakness
OMIM:253280	POMGNT1	55624	HP:0003194	Short nasal bridge
OMIM:253280	POMGNT1	55624	HP:0001302	Pachygyria
OMIM:253280	POMGNT1	55624	HP:0001425	Heterogeneous
OMIM:253280	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:253280	POMGNT1	55624	HP:0007770	Hypoplasia of the retina
OMIM:253280	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	POMGNT1	55624	HP:0001324	Muscle weakness
OMIM:253280	POMGNT1	55624	HP:0000347	Micrognathia
OMIM:253280	POMGNT1	55624	HP:0001250	Seizures
OMIM:253280	POMGNT1	55624	HP:0000648	Optic atrophy
OMIM:253280	POMGNT1	55624	HP:0000232	Everted lower lip vermilion
OMIM:253280	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:253280	POMGNT1	55624	HP:0000518	Cataract
OMIM:253280	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:253280	POMGNT1	55624	HP:0002126	Polymicrogyria
OMIM:253280	POMGNT1	55624	HP:0011344	Severe global developmental delay
OMIM:253280	POMGNT1	55624	HP:0000980	Pallor
OMIM:253280	POMGNT1	55624	HP:0011800	Hypoplasia of midface
OMIM:253280	POMGNT1	55624	HP:0000639	Nystagmus
OMIM:253280	POMGNT1	55624	HP:0006829	Severe muscular hypotonia
OMIM:253280	POMGNT1	55624	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	POMGNT1	55624	HP:0001105	Retinal atrophy
OMIM:253280	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:253280	POMGNT1	55624	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	POMGNT1	55624	HP:0000550	Undetectable electroretinogram
OMIM:253280	POMGNT1	55624	HP:0000486	Strabismus
OMIM:253280	POMGNT1	55624	HP:0007738	Uncontrolled eye movements
OMIM:253280	POMGNT1	55624	HP:0007033	Cerebellar dysplasia
OMIM:253280	POMGNT1	55624	HP:0000485	Megalocornea
OMIM:253280	POMGNT1	55624	HP:0010864	Intellectual disability, severe
OMIM:253280	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:253280	POMGNT1	55624	HP:0000272	Malar flattening
OMIM:253280	POMGNT1	55624	HP:0002119	Ventriculomegaly
OMIM:253280	POMGNT1	55624	HP:0007759	Opacification of the corneal stroma
OMIM:253280	POMGNT1	55624	HP:0008012	Congenital myopia
OMIM:253280	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:253280	FKTN	2218	HP:0002353	EEG abnormality
OMIM:253280	FKTN	2218	HP:0007973	Retinal dysplasia
OMIM:253280	FKTN	2218	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	FKTN	2218	HP:0001336	Myoclonus
OMIM:253280	FKTN	2218	HP:0001257	Spasticity
OMIM:253280	FKTN	2218	HP:0000589	Coloboma
OMIM:253280	FKTN	2218	HP:0002187	Intellectual disability, profound
OMIM:253280	FKTN	2218	HP:0003812	Phenotypic variability
OMIM:253280	FKTN	2218	HP:0000557	Buphthalmos
OMIM:253280	FKTN	2218	HP:0002350	Cerebellar cyst
OMIM:253280	FKTN	2218	HP:0000568	Microphthalmia
OMIM:253280	FKTN	2218	HP:0003577	Congenital onset
OMIM:253280	FKTN	2218	HP:0001290	Generalized hypotonia
OMIM:253280	FKTN	2218	HP:0003324	Generalized muscle weakness
OMIM:253280	FKTN	2218	HP:0003194	Short nasal bridge
OMIM:253280	FKTN	2218	HP:0001302	Pachygyria
OMIM:253280	FKTN	2218	HP:0001425	Heterogeneous
OMIM:253280	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:253280	FKTN	2218	HP:0007770	Hypoplasia of the retina
OMIM:253280	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	FKTN	2218	HP:0001324	Muscle weakness
OMIM:253280	FKTN	2218	HP:0000347	Micrognathia
OMIM:253280	FKTN	2218	HP:0001250	Seizures
OMIM:253280	FKTN	2218	HP:0000648	Optic atrophy
OMIM:253280	FKTN	2218	HP:0000232	Everted lower lip vermilion
OMIM:253280	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:253280	FKTN	2218	HP:0000518	Cataract
OMIM:253280	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:253280	FKTN	2218	HP:0002126	Polymicrogyria
OMIM:253280	FKTN	2218	HP:0011344	Severe global developmental delay
OMIM:253280	FKTN	2218	HP:0000980	Pallor
OMIM:253280	FKTN	2218	HP:0011800	Hypoplasia of midface
OMIM:253280	FKTN	2218	HP:0000639	Nystagmus
OMIM:253280	FKTN	2218	HP:0006829	Severe muscular hypotonia
OMIM:253280	FKTN	2218	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	FKTN	2218	HP:0001105	Retinal atrophy
OMIM:253280	FKTN	2218	HP:0000252	Microcephaly
OMIM:253280	FKTN	2218	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	FKTN	2218	HP:0000550	Undetectable electroretinogram
OMIM:253280	FKTN	2218	HP:0000486	Strabismus
OMIM:253280	FKTN	2218	HP:0007738	Uncontrolled eye movements
OMIM:253280	FKTN	2218	HP:0007033	Cerebellar dysplasia
OMIM:253280	FKTN	2218	HP:0000485	Megalocornea
OMIM:253280	FKTN	2218	HP:0010864	Intellectual disability, severe
OMIM:253280	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:253280	FKTN	2218	HP:0000272	Malar flattening
OMIM:253280	FKTN	2218	HP:0002119	Ventriculomegaly
OMIM:253280	FKTN	2218	HP:0007759	Opacification of the corneal stroma
OMIM:253280	FKTN	2218	HP:0008012	Congenital myopia
OMIM:253280	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:253280	FKRP	79147	HP:0002353	EEG abnormality
OMIM:253280	FKRP	79147	HP:0007973	Retinal dysplasia
OMIM:253280	FKRP	79147	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	FKRP	79147	HP:0001336	Myoclonus
OMIM:253280	FKRP	79147	HP:0001257	Spasticity
OMIM:253280	FKRP	79147	HP:0000589	Coloboma
OMIM:253280	FKRP	79147	HP:0002187	Intellectual disability, profound
OMIM:253280	FKRP	79147	HP:0003812	Phenotypic variability
OMIM:253280	FKRP	79147	HP:0000557	Buphthalmos
OMIM:253280	FKRP	79147	HP:0002350	Cerebellar cyst
OMIM:253280	FKRP	79147	HP:0000568	Microphthalmia
OMIM:253280	FKRP	79147	HP:0003577	Congenital onset
OMIM:253280	FKRP	79147	HP:0001290	Generalized hypotonia
OMIM:253280	FKRP	79147	HP:0003324	Generalized muscle weakness
OMIM:253280	FKRP	79147	HP:0003194	Short nasal bridge
OMIM:253280	FKRP	79147	HP:0001302	Pachygyria
OMIM:253280	FKRP	79147	HP:0001425	Heterogeneous
OMIM:253280	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:253280	FKRP	79147	HP:0007770	Hypoplasia of the retina
OMIM:253280	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	FKRP	79147	HP:0001324	Muscle weakness
OMIM:253280	FKRP	79147	HP:0000347	Micrognathia
OMIM:253280	FKRP	79147	HP:0001250	Seizures
OMIM:253280	FKRP	79147	HP:0000648	Optic atrophy
OMIM:253280	FKRP	79147	HP:0000232	Everted lower lip vermilion
OMIM:253280	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:253280	FKRP	79147	HP:0000518	Cataract
OMIM:253280	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:253280	FKRP	79147	HP:0002126	Polymicrogyria
OMIM:253280	FKRP	79147	HP:0011344	Severe global developmental delay
OMIM:253280	FKRP	79147	HP:0000980	Pallor
OMIM:253280	FKRP	79147	HP:0011800	Hypoplasia of midface
OMIM:253280	FKRP	79147	HP:0000639	Nystagmus
OMIM:253280	FKRP	79147	HP:0006829	Severe muscular hypotonia
OMIM:253280	FKRP	79147	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	FKRP	79147	HP:0001105	Retinal atrophy
OMIM:253280	FKRP	79147	HP:0000252	Microcephaly
OMIM:253280	FKRP	79147	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	FKRP	79147	HP:0000550	Undetectable electroretinogram
OMIM:253280	FKRP	79147	HP:0000486	Strabismus
OMIM:253280	FKRP	79147	HP:0007738	Uncontrolled eye movements
OMIM:253280	FKRP	79147	HP:0007033	Cerebellar dysplasia
OMIM:253280	FKRP	79147	HP:0000485	Megalocornea
OMIM:253280	FKRP	79147	HP:0010864	Intellectual disability, severe
OMIM:253280	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:253280	FKRP	79147	HP:0000272	Malar flattening
OMIM:253280	FKRP	79147	HP:0002119	Ventriculomegaly
OMIM:253280	FKRP	79147	HP:0007759	Opacification of the corneal stroma
OMIM:253280	FKRP	79147	HP:0008012	Congenital myopia
OMIM:253280	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:253280	ISPD	729920	HP:0002353	EEG abnormality
OMIM:253280	ISPD	729920	HP:0007973	Retinal dysplasia
OMIM:253280	ISPD	729920	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	ISPD	729920	HP:0001336	Myoclonus
OMIM:253280	ISPD	729920	HP:0001257	Spasticity
OMIM:253280	ISPD	729920	HP:0000589	Coloboma
OMIM:253280	ISPD	729920	HP:0002187	Intellectual disability, profound
OMIM:253280	ISPD	729920	HP:0003812	Phenotypic variability
OMIM:253280	ISPD	729920	HP:0000557	Buphthalmos
OMIM:253280	ISPD	729920	HP:0002350	Cerebellar cyst
OMIM:253280	ISPD	729920	HP:0000568	Microphthalmia
OMIM:253280	ISPD	729920	HP:0003577	Congenital onset
OMIM:253280	ISPD	729920	HP:0001290	Generalized hypotonia
OMIM:253280	ISPD	729920	HP:0003324	Generalized muscle weakness
OMIM:253280	ISPD	729920	HP:0003194	Short nasal bridge
OMIM:253280	ISPD	729920	HP:0001302	Pachygyria
OMIM:253280	ISPD	729920	HP:0001425	Heterogeneous
OMIM:253280	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:253280	ISPD	729920	HP:0007770	Hypoplasia of the retina
OMIM:253280	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	ISPD	729920	HP:0001324	Muscle weakness
OMIM:253280	ISPD	729920	HP:0000347	Micrognathia
OMIM:253280	ISPD	729920	HP:0001250	Seizures
OMIM:253280	ISPD	729920	HP:0000648	Optic atrophy
OMIM:253280	ISPD	729920	HP:0000232	Everted lower lip vermilion
OMIM:253280	ISPD	729920	HP:0001321	Cerebellar hypoplasia
OMIM:253280	ISPD	729920	HP:0000518	Cataract
OMIM:253280	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:253280	ISPD	729920	HP:0002126	Polymicrogyria
OMIM:253280	ISPD	729920	HP:0011344	Severe global developmental delay
OMIM:253280	ISPD	729920	HP:0000980	Pallor
OMIM:253280	ISPD	729920	HP:0011800	Hypoplasia of midface
OMIM:253280	ISPD	729920	HP:0000639	Nystagmus
OMIM:253280	ISPD	729920	HP:0006829	Severe muscular hypotonia
OMIM:253280	ISPD	729920	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	ISPD	729920	HP:0001105	Retinal atrophy
OMIM:253280	ISPD	729920	HP:0000252	Microcephaly
OMIM:253280	ISPD	729920	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	ISPD	729920	HP:0000550	Undetectable electroretinogram
OMIM:253280	ISPD	729920	HP:0000486	Strabismus
OMIM:253280	ISPD	729920	HP:0007738	Uncontrolled eye movements
OMIM:253280	ISPD	729920	HP:0007033	Cerebellar dysplasia
OMIM:253280	ISPD	729920	HP:0000485	Megalocornea
OMIM:253280	ISPD	729920	HP:0010864	Intellectual disability, severe
OMIM:253280	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:253280	ISPD	729920	HP:0000272	Malar flattening
OMIM:253280	ISPD	729920	HP:0002119	Ventriculomegaly
OMIM:253280	ISPD	729920	HP:0007759	Opacification of the corneal stroma
OMIM:253280	ISPD	729920	HP:0008012	Congenital myopia
OMIM:253280	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:253280	B3GALNT2	148789	HP:0002353	EEG abnormality
OMIM:253280	B3GALNT2	148789	HP:0007973	Retinal dysplasia
OMIM:253280	B3GALNT2	148789	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	B3GALNT2	148789	HP:0001336	Myoclonus
OMIM:253280	B3GALNT2	148789	HP:0001257	Spasticity
OMIM:253280	B3GALNT2	148789	HP:0000589	Coloboma
OMIM:253280	B3GALNT2	148789	HP:0002187	Intellectual disability, profound
OMIM:253280	B3GALNT2	148789	HP:0003812	Phenotypic variability
OMIM:253280	B3GALNT2	148789	HP:0000557	Buphthalmos
OMIM:253280	B3GALNT2	148789	HP:0002350	Cerebellar cyst
OMIM:253280	B3GALNT2	148789	HP:0000568	Microphthalmia
OMIM:253280	B3GALNT2	148789	HP:0003577	Congenital onset
OMIM:253280	B3GALNT2	148789	HP:0001290	Generalized hypotonia
OMIM:253280	B3GALNT2	148789	HP:0003324	Generalized muscle weakness
OMIM:253280	B3GALNT2	148789	HP:0003194	Short nasal bridge
OMIM:253280	B3GALNT2	148789	HP:0001302	Pachygyria
OMIM:253280	B3GALNT2	148789	HP:0001425	Heterogeneous
OMIM:253280	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:253280	B3GALNT2	148789	HP:0007770	Hypoplasia of the retina
OMIM:253280	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	B3GALNT2	148789	HP:0001324	Muscle weakness
OMIM:253280	B3GALNT2	148789	HP:0000347	Micrognathia
OMIM:253280	B3GALNT2	148789	HP:0001250	Seizures
OMIM:253280	B3GALNT2	148789	HP:0000648	Optic atrophy
OMIM:253280	B3GALNT2	148789	HP:0000232	Everted lower lip vermilion
OMIM:253280	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:253280	B3GALNT2	148789	HP:0000518	Cataract
OMIM:253280	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:253280	B3GALNT2	148789	HP:0002126	Polymicrogyria
OMIM:253280	B3GALNT2	148789	HP:0011344	Severe global developmental delay
OMIM:253280	B3GALNT2	148789	HP:0000980	Pallor
OMIM:253280	B3GALNT2	148789	HP:0011800	Hypoplasia of midface
OMIM:253280	B3GALNT2	148789	HP:0000639	Nystagmus
OMIM:253280	B3GALNT2	148789	HP:0006829	Severe muscular hypotonia
OMIM:253280	B3GALNT2	148789	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	B3GALNT2	148789	HP:0001105	Retinal atrophy
OMIM:253280	B3GALNT2	148789	HP:0000252	Microcephaly
OMIM:253280	B3GALNT2	148789	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	B3GALNT2	148789	HP:0000550	Undetectable electroretinogram
OMIM:253280	B3GALNT2	148789	HP:0000486	Strabismus
OMIM:253280	B3GALNT2	148789	HP:0007738	Uncontrolled eye movements
OMIM:253280	B3GALNT2	148789	HP:0007033	Cerebellar dysplasia
OMIM:253280	B3GALNT2	148789	HP:0000485	Megalocornea
OMIM:253280	B3GALNT2	148789	HP:0010864	Intellectual disability, severe
OMIM:253280	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:253280	B3GALNT2	148789	HP:0000272	Malar flattening
OMIM:253280	B3GALNT2	148789	HP:0002119	Ventriculomegaly
OMIM:253280	B3GALNT2	148789	HP:0007759	Opacification of the corneal stroma
OMIM:253280	B3GALNT2	148789	HP:0008012	Congenital myopia
OMIM:253280	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:253280	POMT1	10585	HP:0002353	EEG abnormality
OMIM:253280	POMT1	10585	HP:0007973	Retinal dysplasia
OMIM:253280	POMT1	10585	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	POMT1	10585	HP:0001336	Myoclonus
OMIM:253280	POMT1	10585	HP:0001257	Spasticity
OMIM:253280	POMT1	10585	HP:0000589	Coloboma
OMIM:253280	POMT1	10585	HP:0002187	Intellectual disability, profound
OMIM:253280	POMT1	10585	HP:0003812	Phenotypic variability
OMIM:253280	POMT1	10585	HP:0000557	Buphthalmos
OMIM:253280	POMT1	10585	HP:0002350	Cerebellar cyst
OMIM:253280	POMT1	10585	HP:0000568	Microphthalmia
OMIM:253280	POMT1	10585	HP:0003577	Congenital onset
OMIM:253280	POMT1	10585	HP:0001290	Generalized hypotonia
OMIM:253280	POMT1	10585	HP:0003324	Generalized muscle weakness
OMIM:253280	POMT1	10585	HP:0003194	Short nasal bridge
OMIM:253280	POMT1	10585	HP:0001302	Pachygyria
OMIM:253280	POMT1	10585	HP:0001425	Heterogeneous
OMIM:253280	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:253280	POMT1	10585	HP:0007770	Hypoplasia of the retina
OMIM:253280	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	POMT1	10585	HP:0001324	Muscle weakness
OMIM:253280	POMT1	10585	HP:0000347	Micrognathia
OMIM:253280	POMT1	10585	HP:0001250	Seizures
OMIM:253280	POMT1	10585	HP:0000648	Optic atrophy
OMIM:253280	POMT1	10585	HP:0000232	Everted lower lip vermilion
OMIM:253280	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:253280	POMT1	10585	HP:0000518	Cataract
OMIM:253280	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:253280	POMT1	10585	HP:0002126	Polymicrogyria
OMIM:253280	POMT1	10585	HP:0011344	Severe global developmental delay
OMIM:253280	POMT1	10585	HP:0000980	Pallor
OMIM:253280	POMT1	10585	HP:0011800	Hypoplasia of midface
OMIM:253280	POMT1	10585	HP:0000639	Nystagmus
OMIM:253280	POMT1	10585	HP:0006829	Severe muscular hypotonia
OMIM:253280	POMT1	10585	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	POMT1	10585	HP:0001105	Retinal atrophy
OMIM:253280	POMT1	10585	HP:0000252	Microcephaly
OMIM:253280	POMT1	10585	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	POMT1	10585	HP:0000550	Undetectable electroretinogram
OMIM:253280	POMT1	10585	HP:0000486	Strabismus
OMIM:253280	POMT1	10585	HP:0007738	Uncontrolled eye movements
OMIM:253280	POMT1	10585	HP:0007033	Cerebellar dysplasia
OMIM:253280	POMT1	10585	HP:0000485	Megalocornea
OMIM:253280	POMT1	10585	HP:0010864	Intellectual disability, severe
OMIM:253280	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:253280	POMT1	10585	HP:0000272	Malar flattening
OMIM:253280	POMT1	10585	HP:0002119	Ventriculomegaly
OMIM:253280	POMT1	10585	HP:0007759	Opacification of the corneal stroma
OMIM:253280	POMT1	10585	HP:0008012	Congenital myopia
OMIM:253280	TMEM5	10329	HP:0000238	Hydrocephalus
OMIM:253280	TMEM5	10329	HP:0002353	EEG abnormality
OMIM:253280	TMEM5	10329	HP:0007973	Retinal dysplasia
OMIM:253280	TMEM5	10329	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	TMEM5	10329	HP:0001336	Myoclonus
OMIM:253280	TMEM5	10329	HP:0001257	Spasticity
OMIM:253280	TMEM5	10329	HP:0000589	Coloboma
OMIM:253280	TMEM5	10329	HP:0002187	Intellectual disability, profound
OMIM:253280	TMEM5	10329	HP:0003812	Phenotypic variability
OMIM:253280	TMEM5	10329	HP:0000557	Buphthalmos
OMIM:253280	TMEM5	10329	HP:0002350	Cerebellar cyst
OMIM:253280	TMEM5	10329	HP:0000568	Microphthalmia
OMIM:253280	TMEM5	10329	HP:0003577	Congenital onset
OMIM:253280	TMEM5	10329	HP:0001290	Generalized hypotonia
OMIM:253280	TMEM5	10329	HP:0003324	Generalized muscle weakness
OMIM:253280	TMEM5	10329	HP:0003194	Short nasal bridge
OMIM:253280	TMEM5	10329	HP:0001302	Pachygyria
OMIM:253280	TMEM5	10329	HP:0001425	Heterogeneous
OMIM:253280	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:253280	TMEM5	10329	HP:0007770	Hypoplasia of the retina
OMIM:253280	TMEM5	10329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	TMEM5	10329	HP:0001324	Muscle weakness
OMIM:253280	TMEM5	10329	HP:0000347	Micrognathia
OMIM:253280	TMEM5	10329	HP:0001250	Seizures
OMIM:253280	TMEM5	10329	HP:0000648	Optic atrophy
OMIM:253280	TMEM5	10329	HP:0000232	Everted lower lip vermilion
OMIM:253280	TMEM5	10329	HP:0001321	Cerebellar hypoplasia
OMIM:253280	TMEM5	10329	HP:0000518	Cataract
OMIM:253280	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:253280	TMEM5	10329	HP:0002126	Polymicrogyria
OMIM:253280	TMEM5	10329	HP:0011344	Severe global developmental delay
OMIM:253280	TMEM5	10329	HP:0000980	Pallor
OMIM:253280	TMEM5	10329	HP:0011800	Hypoplasia of midface
OMIM:253280	TMEM5	10329	HP:0000639	Nystagmus
OMIM:253280	TMEM5	10329	HP:0006829	Severe muscular hypotonia
OMIM:253280	TMEM5	10329	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	TMEM5	10329	HP:0001105	Retinal atrophy
OMIM:253280	TMEM5	10329	HP:0000252	Microcephaly
OMIM:253280	TMEM5	10329	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	TMEM5	10329	HP:0000550	Undetectable electroretinogram
OMIM:253280	TMEM5	10329	HP:0000486	Strabismus
OMIM:253280	TMEM5	10329	HP:0007738	Uncontrolled eye movements
OMIM:253280	TMEM5	10329	HP:0007033	Cerebellar dysplasia
OMIM:253280	TMEM5	10329	HP:0000485	Megalocornea
OMIM:253280	TMEM5	10329	HP:0010864	Intellectual disability, severe
OMIM:253280	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:253280	TMEM5	10329	HP:0000272	Malar flattening
OMIM:253280	TMEM5	10329	HP:0002119	Ventriculomegaly
OMIM:253280	TMEM5	10329	HP:0007759	Opacification of the corneal stroma
OMIM:253280	TMEM5	10329	HP:0008012	Congenital myopia
OMIM:253280	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:253280	POMGNT2	84892	HP:0002353	EEG abnormality
OMIM:253280	POMGNT2	84892	HP:0007973	Retinal dysplasia
OMIM:253280	POMGNT2	84892	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	POMGNT2	84892	HP:0001336	Myoclonus
OMIM:253280	POMGNT2	84892	HP:0001257	Spasticity
OMIM:253280	POMGNT2	84892	HP:0000589	Coloboma
OMIM:253280	POMGNT2	84892	HP:0002187	Intellectual disability, profound
OMIM:253280	POMGNT2	84892	HP:0003812	Phenotypic variability
OMIM:253280	POMGNT2	84892	HP:0000557	Buphthalmos
OMIM:253280	POMGNT2	84892	HP:0002350	Cerebellar cyst
OMIM:253280	POMGNT2	84892	HP:0000568	Microphthalmia
OMIM:253280	POMGNT2	84892	HP:0003577	Congenital onset
OMIM:253280	POMGNT2	84892	HP:0001290	Generalized hypotonia
OMIM:253280	POMGNT2	84892	HP:0003324	Generalized muscle weakness
OMIM:253280	POMGNT2	84892	HP:0003194	Short nasal bridge
OMIM:253280	POMGNT2	84892	HP:0001302	Pachygyria
OMIM:253280	POMGNT2	84892	HP:0001425	Heterogeneous
OMIM:253280	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:253280	POMGNT2	84892	HP:0007770	Hypoplasia of the retina
OMIM:253280	POMGNT2	84892	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	POMGNT2	84892	HP:0001324	Muscle weakness
OMIM:253280	POMGNT2	84892	HP:0000347	Micrognathia
OMIM:253280	POMGNT2	84892	HP:0001250	Seizures
OMIM:253280	POMGNT2	84892	HP:0000648	Optic atrophy
OMIM:253280	POMGNT2	84892	HP:0000232	Everted lower lip vermilion
OMIM:253280	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
OMIM:253280	POMGNT2	84892	HP:0000518	Cataract
OMIM:253280	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:253280	POMGNT2	84892	HP:0002126	Polymicrogyria
OMIM:253280	POMGNT2	84892	HP:0011344	Severe global developmental delay
OMIM:253280	POMGNT2	84892	HP:0000980	Pallor
OMIM:253280	POMGNT2	84892	HP:0011800	Hypoplasia of midface
OMIM:253280	POMGNT2	84892	HP:0000639	Nystagmus
OMIM:253280	POMGNT2	84892	HP:0006829	Severe muscular hypotonia
OMIM:253280	POMGNT2	84892	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	POMGNT2	84892	HP:0001105	Retinal atrophy
OMIM:253280	POMGNT2	84892	HP:0000252	Microcephaly
OMIM:253280	POMGNT2	84892	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	POMGNT2	84892	HP:0000550	Undetectable electroretinogram
OMIM:253280	POMGNT2	84892	HP:0000486	Strabismus
OMIM:253280	POMGNT2	84892	HP:0007738	Uncontrolled eye movements
OMIM:253280	POMGNT2	84892	HP:0007033	Cerebellar dysplasia
OMIM:253280	POMGNT2	84892	HP:0000485	Megalocornea
OMIM:253280	POMGNT2	84892	HP:0010864	Intellectual disability, severe
OMIM:253280	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:253280	POMGNT2	84892	HP:0000272	Malar flattening
OMIM:253280	POMGNT2	84892	HP:0002119	Ventriculomegaly
OMIM:253280	POMGNT2	84892	HP:0007759	Opacification of the corneal stroma
OMIM:253280	POMGNT2	84892	HP:0008012	Congenital myopia
OMIM:253280	LARGE	9215	HP:0000238	Hydrocephalus
OMIM:253280	LARGE	9215	HP:0002353	EEG abnormality
OMIM:253280	LARGE	9215	HP:0007973	Retinal dysplasia
OMIM:253280	LARGE	9215	HP:0002365	Hypoplasia of the brainstem
OMIM:253280	LARGE	9215	HP:0001336	Myoclonus
OMIM:253280	LARGE	9215	HP:0001257	Spasticity
OMIM:253280	LARGE	9215	HP:0000589	Coloboma
OMIM:253280	LARGE	9215	HP:0002187	Intellectual disability, profound
OMIM:253280	LARGE	9215	HP:0003812	Phenotypic variability
OMIM:253280	LARGE	9215	HP:0000557	Buphthalmos
OMIM:253280	LARGE	9215	HP:0002350	Cerebellar cyst
OMIM:253280	LARGE	9215	HP:0000568	Microphthalmia
OMIM:253280	LARGE	9215	HP:0003577	Congenital onset
OMIM:253280	LARGE	9215	HP:0001290	Generalized hypotonia
OMIM:253280	LARGE	9215	HP:0003324	Generalized muscle weakness
OMIM:253280	LARGE	9215	HP:0003194	Short nasal bridge
OMIM:253280	LARGE	9215	HP:0001302	Pachygyria
OMIM:253280	LARGE	9215	HP:0001425	Heterogeneous
OMIM:253280	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:253280	LARGE	9215	HP:0007770	Hypoplasia of the retina
OMIM:253280	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253280	LARGE	9215	HP:0001324	Muscle weakness
OMIM:253280	LARGE	9215	HP:0000347	Micrognathia
OMIM:253280	LARGE	9215	HP:0001250	Seizures
OMIM:253280	LARGE	9215	HP:0000648	Optic atrophy
OMIM:253280	LARGE	9215	HP:0000232	Everted lower lip vermilion
OMIM:253280	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:253280	LARGE	9215	HP:0000518	Cataract
OMIM:253280	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:253280	LARGE	9215	HP:0002126	Polymicrogyria
OMIM:253280	LARGE	9215	HP:0011344	Severe global developmental delay
OMIM:253280	LARGE	9215	HP:0000980	Pallor
OMIM:253280	LARGE	9215	HP:0011800	Hypoplasia of midface
OMIM:253280	LARGE	9215	HP:0000639	Nystagmus
OMIM:253280	LARGE	9215	HP:0006829	Severe muscular hypotonia
OMIM:253280	LARGE	9215	HP:0008045	Enlarged flash visual evoked potentials
OMIM:253280	LARGE	9215	HP:0001105	Retinal atrophy
OMIM:253280	LARGE	9215	HP:0000252	Microcephaly
OMIM:253280	LARGE	9215	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:253280	LARGE	9215	HP:0000550	Undetectable electroretinogram
OMIM:253280	LARGE	9215	HP:0000486	Strabismus
OMIM:253280	LARGE	9215	HP:0007738	Uncontrolled eye movements
OMIM:253280	LARGE	9215	HP:0007033	Cerebellar dysplasia
OMIM:253280	LARGE	9215	HP:0000485	Megalocornea
OMIM:253280	LARGE	9215	HP:0010864	Intellectual disability, severe
OMIM:253280	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:253280	LARGE	9215	HP:0000272	Malar flattening
OMIM:253280	LARGE	9215	HP:0002119	Ventriculomegaly
OMIM:253280	LARGE	9215	HP:0007759	Opacification of the corneal stroma
OMIM:253280	LARGE	9215	HP:0008012	Congenital myopia
OMIM:600467	RYR1	6261	HP:0001941	Acidosis
OMIM:600467	RYR1	6261	HP:0003201	Rhabdomyolysis
OMIM:600467	RYR1	6261	HP:0000006	Autosomal dominant inheritance
OMIM:600467	CACNA1S	779	HP:0001941	Acidosis
OMIM:600467	CACNA1S	779	HP:0003201	Rhabdomyolysis
OMIM:600467	CACNA1S	779	HP:0000006	Autosomal dominant inheritance
OMIM:606438	JPH3	57338	HP:0001332	Dystonia
OMIM:606438	JPH3	57338	HP:0000746	Delusions
OMIM:606438	JPH3	57338	HP:0000006	Autosomal dominant inheritance
OMIM:606438	JPH3	57338	HP:0000737	Irritability
OMIM:606438	JPH3	57338	HP:0001260	Dysarthria
OMIM:606438	JPH3	57338	HP:0002067	Bradykinesia
OMIM:606438	JPH3	57338	HP:0000726	Dementia
OMIM:606438	JPH3	57338	HP:0000739	Anxiety
OMIM:606438	JPH3	57338	HP:0000716	Depression
OMIM:606438	JPH3	57338	HP:0000738	Hallucinations
OMIM:606438	JPH3	57338	HP:0001824	Weight loss
OMIM:606438	JPH3	57338	HP:0001347	Hyperreflexia
OMIM:606438	JPH3	57338	HP:0000741	Apathy
OMIM:606438	JPH3	57338	HP:0002063	Rigidity
OMIM:606438	JPH3	57338	HP:0002072	Chorea
OMIM:614089	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:227600	F10	2159	HP:0002170	Intracranial hemorrhage
OMIM:227600	F10	2159	HP:0000225	Gingival bleeding
OMIM:227600	F10	2159	HP:0000007	Autosomal recessive inheritance
OMIM:227600	F10	2159	HP:0003828	Variable expressivity
OMIM:227600	F10	2159	HP:0000421	Epistaxis
OMIM:254800	CSTB	1476	HP:0002121	Absence seizures
OMIM:254800	CSTB	1476	HP:0001251	Ataxia
OMIM:254800	CSTB	1476	HP:0002069	Generalized tonic-clonic seizures
OMIM:254800	CSTB	1476	HP:0001268	Mental deterioration
OMIM:254800	CSTB	1476	HP:0001336	Myoclonus
OMIM:254800	CSTB	1476	HP:0000007	Autosomal recessive inheritance
OMIM:254800	CSTB	1476	HP:0001260	Dysarthria
OMIM:254800	SCARB2	950	HP:0002121	Absence seizures
OMIM:254800	SCARB2	950	HP:0001251	Ataxia
OMIM:254800	SCARB2	950	HP:0002069	Generalized tonic-clonic seizures
OMIM:254800	SCARB2	950	HP:0001268	Mental deterioration
OMIM:254800	SCARB2	950	HP:0001336	Myoclonus
OMIM:254800	SCARB2	950	HP:0000007	Autosomal recessive inheritance
OMIM:254800	SCARB2	950	HP:0001260	Dysarthria
OMIM:254800	PRICKLE1	144165	HP:0002121	Absence seizures
OMIM:254800	PRICKLE1	144165	HP:0001251	Ataxia
OMIM:254800	PRICKLE1	144165	HP:0002069	Generalized tonic-clonic seizures
OMIM:254800	PRICKLE1	144165	HP:0001268	Mental deterioration
OMIM:254800	PRICKLE1	144165	HP:0001336	Myoclonus
OMIM:254800	PRICKLE1	144165	HP:0000007	Autosomal recessive inheritance
OMIM:254800	PRICKLE1	144165	HP:0001260	Dysarthria
OMIM:239100	SOST	50964	HP:0004437	Cranial hyperostosis
OMIM:239100	SOST	50964	HP:0006824	Cranial nerve paralysis
OMIM:239100	SOST	50964	HP:0011001	Increased bone mineral density
OMIM:239100	SOST	50964	HP:0000007	Autosomal recessive inheritance
OMIM:239100	SOST	50964	HP:0000365	Hearing impairment
OMIM:239100	SOST	50964	HP:0002315	Headache
OMIM:239100	LRP5	4041	HP:0004437	Cranial hyperostosis
OMIM:239100	LRP5	4041	HP:0006824	Cranial nerve paralysis
OMIM:239100	LRP5	4041	HP:0011001	Increased bone mineral density
OMIM:239100	LRP5	4041	HP:0000007	Autosomal recessive inheritance
OMIM:239100	LRP5	4041	HP:0000365	Hearing impairment
OMIM:239100	LRP5	4041	HP:0002315	Headache
OMIM:108900	NKX2-5	1482	HP:0005110	Atrial fibrillation
OMIM:108900	NKX2-5	1482	HP:0001636	Tetralogy of Fallot
OMIM:108900	NKX2-5	1482	HP:0012248	Prolonged PR interval
OMIM:108900	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:108900	NKX2-5	1482	HP:0001682	Subaortic stenosis
OMIM:108900	NKX2-5	1482	HP:0004935	Pulmonary artery atresia
OMIM:108900	NKX2-5	1482	HP:0001712	Left ventricular hypertrophy
OMIM:108900	NKX2-5	1482	HP:0001629	Ventricular septal defect
OMIM:211100	FUT1	2523	HP:0000007	Autosomal recessive inheritance
OMIM:211100	FUT1	2523	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:216820	SHH	6469	HP:0000589	Coloboma
OMIM:216820	SHH	6469	HP:0001132	Lens subluxation
OMIM:216820	SHH	6469	HP:0000565	Esotropia
OMIM:216820	SHH	6469	HP:0000505	Visual impairment
OMIM:216820	SHH	6469	HP:0000577	Exotropia
OMIM:216820	SHH	6469	HP:0007663	Reduced visual acuity
OMIM:216820	PAX6	5080	HP:0000589	Coloboma
OMIM:216820	PAX6	5080	HP:0001132	Lens subluxation
OMIM:216820	PAX6	5080	HP:0000565	Esotropia
OMIM:216820	PAX6	5080	HP:0000505	Visual impairment
OMIM:216820	PAX6	5080	HP:0000577	Exotropia
OMIM:216820	PAX6	5080	HP:0007663	Reduced visual acuity
OMIM:216820	SALL2	6297	HP:0000589	Coloboma
OMIM:216820	SALL2	6297	HP:0001132	Lens subluxation
OMIM:216820	SALL2	6297	HP:0000565	Esotropia
OMIM:216820	SALL2	6297	HP:0000505	Visual impairment
OMIM:216820	SALL2	6297	HP:0000577	Exotropia
OMIM:216820	SALL2	6297	HP:0007663	Reduced visual acuity
OMIM:216820	ABCB6	10058	HP:0000589	Coloboma
OMIM:216820	ABCB6	10058	HP:0001132	Lens subluxation
OMIM:216820	ABCB6	10058	HP:0000565	Esotropia
OMIM:216820	ABCB6	10058	HP:0000505	Visual impairment
OMIM:216820	ABCB6	10058	HP:0000577	Exotropia
OMIM:216820	ABCB6	10058	HP:0007663	Reduced visual acuity
OMIM:613477	PLCB1	23236	HP:0003828	Variable expressivity
OMIM:613477	PLCB1	23236	HP:0002187	Intellectual disability, profound
OMIM:613477	PLCB1	23236	HP:0001252	Muscular hypotonia
OMIM:613477	PLCB1	23236	HP:0200134	Epileptic encephalopathy
OMIM:613477	PLCB1	23236	HP:0003593	Infantile onset
OMIM:613477	PLCB1	23236	HP:0001347	Hyperreflexia
OMIM:613477	PLCB1	23236	HP:0003429	CNS hypomyelination
OMIM:613477	PLCB1	23236	HP:0001250	Seizures
OMIM:613477	PLCB1	23236	HP:0002521	Hypsarrhythmia
OMIM:613477	PLCB1	23236	HP:0002059	Cerebral atrophy
OMIM:613477	PLCB1	23236	HP:0002510	Spastic tetraplegia
OMIM:613477	PLCB1	23236	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613477	PLCB1	23236	HP:0000006	Autosomal dominant inheritance
OMIM:613477	PLCB1	23236	HP:0010864	Intellectual disability, severe
OMIM:613477	PLCB1	23236	HP:0001272	Cerebellar atrophy
OMIM:613477	PLCB1	23236	HP:0000253	Progressive microcephaly
OMIM:613477	SPTAN1	6709	HP:0003828	Variable expressivity
OMIM:613477	SPTAN1	6709	HP:0002187	Intellectual disability, profound
OMIM:613477	SPTAN1	6709	HP:0001252	Muscular hypotonia
OMIM:613477	SPTAN1	6709	HP:0200134	Epileptic encephalopathy
OMIM:613477	SPTAN1	6709	HP:0003593	Infantile onset
OMIM:613477	SPTAN1	6709	HP:0001347	Hyperreflexia
OMIM:613477	SPTAN1	6709	HP:0003429	CNS hypomyelination
OMIM:613477	SPTAN1	6709	HP:0001250	Seizures
OMIM:613477	SPTAN1	6709	HP:0002521	Hypsarrhythmia
OMIM:613477	SPTAN1	6709	HP:0002059	Cerebral atrophy
OMIM:613477	SPTAN1	6709	HP:0002510	Spastic tetraplegia
OMIM:613477	SPTAN1	6709	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613477	SPTAN1	6709	HP:0000006	Autosomal dominant inheritance
OMIM:613477	SPTAN1	6709	HP:0010864	Intellectual disability, severe
OMIM:613477	SPTAN1	6709	HP:0001272	Cerebellar atrophy
OMIM:613477	SPTAN1	6709	HP:0000253	Progressive microcephaly
OMIM:613477	SCN2A	6326	HP:0003828	Variable expressivity
OMIM:613477	SCN2A	6326	HP:0002187	Intellectual disability, profound
OMIM:613477	SCN2A	6326	HP:0001252	Muscular hypotonia
OMIM:613477	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:613477	SCN2A	6326	HP:0003593	Infantile onset
OMIM:613477	SCN2A	6326	HP:0001347	Hyperreflexia
OMIM:613477	SCN2A	6326	HP:0003429	CNS hypomyelination
OMIM:613477	SCN2A	6326	HP:0001250	Seizures
OMIM:613477	SCN2A	6326	HP:0002521	Hypsarrhythmia
OMIM:613477	SCN2A	6326	HP:0002059	Cerebral atrophy
OMIM:613477	SCN2A	6326	HP:0002510	Spastic tetraplegia
OMIM:613477	SCN2A	6326	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613477	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:613477	SCN2A	6326	HP:0010864	Intellectual disability, severe
OMIM:613477	SCN2A	6326	HP:0001272	Cerebellar atrophy
OMIM:613477	SCN2A	6326	HP:0000253	Progressive microcephaly
OMIM:613477	ST3GAL3	6487	HP:0003828	Variable expressivity
OMIM:613477	ST3GAL3	6487	HP:0002187	Intellectual disability, profound
OMIM:613477	ST3GAL3	6487	HP:0001252	Muscular hypotonia
OMIM:613477	ST3GAL3	6487	HP:0200134	Epileptic encephalopathy
OMIM:613477	ST3GAL3	6487	HP:0003593	Infantile onset
OMIM:613477	ST3GAL3	6487	HP:0001347	Hyperreflexia
OMIM:613477	ST3GAL3	6487	HP:0003429	CNS hypomyelination
OMIM:613477	ST3GAL3	6487	HP:0001250	Seizures
OMIM:613477	ST3GAL3	6487	HP:0002521	Hypsarrhythmia
OMIM:613477	ST3GAL3	6487	HP:0002059	Cerebral atrophy
OMIM:613477	ST3GAL3	6487	HP:0002510	Spastic tetraplegia
OMIM:613477	ST3GAL3	6487	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613477	ST3GAL3	6487	HP:0000006	Autosomal dominant inheritance
OMIM:613477	ST3GAL3	6487	HP:0010864	Intellectual disability, severe
OMIM:613477	ST3GAL3	6487	HP:0001272	Cerebellar atrophy
OMIM:613477	ST3GAL3	6487	HP:0000253	Progressive microcephaly
OMIM:613477	CDKL5	6792	HP:0003828	Variable expressivity
OMIM:613477	CDKL5	6792	HP:0002187	Intellectual disability, profound
OMIM:613477	CDKL5	6792	HP:0001252	Muscular hypotonia
OMIM:613477	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:613477	CDKL5	6792	HP:0003593	Infantile onset
OMIM:613477	CDKL5	6792	HP:0001347	Hyperreflexia
OMIM:613477	CDKL5	6792	HP:0003429	CNS hypomyelination
OMIM:613477	CDKL5	6792	HP:0001250	Seizures
OMIM:613477	CDKL5	6792	HP:0002521	Hypsarrhythmia
OMIM:613477	CDKL5	6792	HP:0002059	Cerebral atrophy
OMIM:613477	CDKL5	6792	HP:0002510	Spastic tetraplegia
OMIM:613477	CDKL5	6792	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613477	CDKL5	6792	HP:0000006	Autosomal dominant inheritance
OMIM:613477	CDKL5	6792	HP:0010864	Intellectual disability, severe
OMIM:613477	CDKL5	6792	HP:0001272	Cerebellar atrophy
OMIM:613477	CDKL5	6792	HP:0000253	Progressive microcephaly
OMIM:613477	GRIN2B	2904	HP:0003828	Variable expressivity
OMIM:613477	GRIN2B	2904	HP:0002187	Intellectual disability, profound
OMIM:613477	GRIN2B	2904	HP:0001252	Muscular hypotonia
OMIM:613477	GRIN2B	2904	HP:0200134	Epileptic encephalopathy
OMIM:613477	GRIN2B	2904	HP:0003593	Infantile onset
OMIM:613477	GRIN2B	2904	HP:0001347	Hyperreflexia
OMIM:613477	GRIN2B	2904	HP:0003429	CNS hypomyelination
OMIM:613477	GRIN2B	2904	HP:0001250	Seizures
OMIM:613477	GRIN2B	2904	HP:0002521	Hypsarrhythmia
OMIM:613477	GRIN2B	2904	HP:0002059	Cerebral atrophy
OMIM:613477	GRIN2B	2904	HP:0002510	Spastic tetraplegia
OMIM:613477	GRIN2B	2904	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613477	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:613477	GRIN2B	2904	HP:0010864	Intellectual disability, severe
OMIM:613477	GRIN2B	2904	HP:0001272	Cerebellar atrophy
OMIM:613477	GRIN2B	2904	HP:0000253	Progressive microcephaly
OMIM:613477	ARX	170302	HP:0003828	Variable expressivity
OMIM:613477	ARX	170302	HP:0002187	Intellectual disability, profound
OMIM:613477	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:613477	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:613477	ARX	170302	HP:0003593	Infantile onset
OMIM:613477	ARX	170302	HP:0001347	Hyperreflexia
OMIM:613477	ARX	170302	HP:0003429	CNS hypomyelination
OMIM:613477	ARX	170302	HP:0001250	Seizures
OMIM:613477	ARX	170302	HP:0002521	Hypsarrhythmia
OMIM:613477	ARX	170302	HP:0002059	Cerebral atrophy
OMIM:613477	ARX	170302	HP:0002510	Spastic tetraplegia
OMIM:613477	ARX	170302	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613477	ARX	170302	HP:0000006	Autosomal dominant inheritance
OMIM:613477	ARX	170302	HP:0010864	Intellectual disability, severe
OMIM:613477	ARX	170302	HP:0001272	Cerebellar atrophy
OMIM:613477	ARX	170302	HP:0000253	Progressive microcephaly
OMIM:613477	SIK1	150094	HP:0003828	Variable expressivity
OMIM:613477	SIK1	150094	HP:0002187	Intellectual disability, profound
OMIM:613477	SIK1	150094	HP:0001252	Muscular hypotonia
OMIM:613477	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:613477	SIK1	150094	HP:0003593	Infantile onset
OMIM:613477	SIK1	150094	HP:0001347	Hyperreflexia
OMIM:613477	SIK1	150094	HP:0003429	CNS hypomyelination
OMIM:613477	SIK1	150094	HP:0001250	Seizures
OMIM:613477	SIK1	150094	HP:0002521	Hypsarrhythmia
OMIM:613477	SIK1	150094	HP:0002059	Cerebral atrophy
OMIM:613477	SIK1	150094	HP:0002510	Spastic tetraplegia
OMIM:613477	SIK1	150094	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613477	SIK1	150094	HP:0000006	Autosomal dominant inheritance
OMIM:613477	SIK1	150094	HP:0010864	Intellectual disability, severe
OMIM:613477	SIK1	150094	HP:0001272	Cerebellar atrophy
OMIM:613477	SIK1	150094	HP:0000253	Progressive microcephaly
OMIM:613477	PIGA	5277	HP:0003828	Variable expressivity
OMIM:613477	PIGA	5277	HP:0002187	Intellectual disability, profound
OMIM:613477	PIGA	5277	HP:0001252	Muscular hypotonia
OMIM:613477	PIGA	5277	HP:0200134	Epileptic encephalopathy
OMIM:613477	PIGA	5277	HP:0003593	Infantile onset
OMIM:613477	PIGA	5277	HP:0001347	Hyperreflexia
OMIM:613477	PIGA	5277	HP:0003429	CNS hypomyelination
OMIM:613477	PIGA	5277	HP:0001250	Seizures
OMIM:613477	PIGA	5277	HP:0002521	Hypsarrhythmia
OMIM:613477	PIGA	5277	HP:0002059	Cerebral atrophy
OMIM:613477	PIGA	5277	HP:0002510	Spastic tetraplegia
OMIM:613477	PIGA	5277	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613477	PIGA	5277	HP:0000006	Autosomal dominant inheritance
OMIM:613477	PIGA	5277	HP:0010864	Intellectual disability, severe
OMIM:613477	PIGA	5277	HP:0001272	Cerebellar atrophy
OMIM:613477	PIGA	5277	HP:0000253	Progressive microcephaly
OMIM:606960	ITS	282551	HP:0001428	Somatic mutation
OMIM:615963	SOX17	64321	HP:0000010	Recurrent urinary tract infections
OMIM:615963	SOX17	64321	HP:0000076	Vesicoureteral reflux
OMIM:615963	SOX17	64321	HP:0000081	Duplicated collecting system
OMIM:615963	SOX17	64321	HP:0001382	Joint hypermobility
OMIM:615963	TNXB	7148	HP:0000010	Recurrent urinary tract infections
OMIM:615963	TNXB	7148	HP:0000076	Vesicoureteral reflux
OMIM:615963	TNXB	7148	HP:0000081	Duplicated collecting system
OMIM:615963	TNXB	7148	HP:0001382	Joint hypermobility
OMIM:615963	ROBO2	6092	HP:0000010	Recurrent urinary tract infections
OMIM:615963	ROBO2	6092	HP:0000076	Vesicoureteral reflux
OMIM:615963	ROBO2	6092	HP:0000081	Duplicated collecting system
OMIM:615963	ROBO2	6092	HP:0001382	Joint hypermobility
OMIM:611523	RARS2	57038	HP:0000253	Progressive microcephaly
OMIM:611523	RARS2	57038	HP:0001347	Hyperreflexia
OMIM:611523	RARS2	57038	HP:0002033	Poor suck
OMIM:611523	RARS2	57038	HP:0006986	Upper limb spasticity
OMIM:611523	RARS2	57038	HP:0001252	Muscular hypotonia
OMIM:611523	RARS2	57038	HP:0002151	Increased serum lactate
OMIM:611523	RARS2	57038	HP:0000007	Autosomal recessive inheritance
OMIM:611523	RARS2	57038	HP:0001272	Cerebellar atrophy
OMIM:611523	RARS2	57038	HP:0000426	Prominent nasal bridge
OMIM:611523	RARS2	57038	HP:0001263	Global developmental delay
OMIM:611523	RARS2	57038	HP:0002421	Poor head control
OMIM:611523	RARS2	57038	HP:0001321	Cerebellar hypoplasia
OMIM:611523	RARS2	57038	HP:0003577	Congenital onset
OMIM:611523	RARS2	57038	HP:0002061	Lower limb spasticity
OMIM:611523	RARS2	57038	HP:0000490	Deeply set eye
OMIM:611523	RARS2	57038	HP:0001250	Seizures
OMIM:611523	RARS2	57038	HP:0002059	Cerebral atrophy
OMIM:611523	RARS2	57038	HP:0003819	Death in childhood
OMIM:611523	RARS2	57038	HP:0000189	Narrow palate
OMIM:611523	RARS2	57038	HP:0001508	Failure to thrive
OMIM:611523	RARS2	57038	HP:0000341	Narrow forehead
OMIM:611523	RARS2	57038	HP:0002104	Apnea
OMIM:611523	RARS2	57038	HP:0002490	Increased CSF lactate
OMIM:611523	RARS2	57038	HP:0003676	Progressive
OMIM:300559	PHKA1	5255	HP:0003546	Exercise intolerance
OMIM:300559	PHKA1	5255	HP:0008305	Exercise-induced myoglobinuria
OMIM:300559	PHKA1	5255	HP:0001324	Muscle weakness
OMIM:300559	PHKA1	5255	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300559	PHKA1	5255	HP:0001419	X-linked recessive inheritance
OMIM:300559	PHKA1	5255	HP:0003202	Skeletal muscle atrophy
OMIM:300559	PHKG1	5260	HP:0003546	Exercise intolerance
OMIM:300559	PHKG1	5260	HP:0008305	Exercise-induced myoglobinuria
OMIM:300559	PHKG1	5260	HP:0001324	Muscle weakness
OMIM:300559	PHKG1	5260	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300559	PHKG1	5260	HP:0001419	X-linked recessive inheritance
OMIM:300559	PHKG1	5260	HP:0003202	Skeletal muscle atrophy
OMIM:610090	PNPO	55163	HP:0001508	Failure to thrive
OMIM:610090	PNPO	55163	HP:0001250	Seizures
OMIM:610090	PNPO	55163	HP:0001298	Encephalopathy
OMIM:610090	PNPO	55163	HP:0002151	Increased serum lactate
OMIM:610090	PNPO	55163	HP:0008872	Feeding difficulties in infancy
OMIM:610090	PNPO	55163	HP:0008936	Muscular hypotonia of the trunk
OMIM:610090	PNPO	55163	HP:0000007	Autosomal recessive inheritance
OMIM:610090	PNPO	55163	HP:0001903	Anemia
OMIM:610090	PNPO	55163	HP:0001943	Hypoglycemia
OMIM:610090	PNPO	55163	HP:0001336	Myoclonus
OMIM:610090	PNPO	55163	HP:0000253	Progressive microcephaly
OMIM:610090	PNPO	55163	HP:0001622	Premature birth
OMIM:610090	PNPO	55163	HP:0001942	Metabolic acidosis
OMIM:608627	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:608627	VAPB	9217	HP:0003701	Proximal muscle weakness
OMIM:608627	VAPB	9217	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	VAPB	9217	HP:0001284	Areflexia
OMIM:608627	VAPB	9217	HP:0002015	Dysphagia
OMIM:608627	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	VAPB	9217	HP:0001260	Dysarthria
OMIM:608627	VAPB	9217	HP:0002380	Fasciculations
OMIM:608627	VAPB	9217	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	VAPB	9217	HP:0003394	Muscle cramps
OMIM:608627	VAPB	9217	HP:0002460	Distal muscle weakness
OMIM:608627	VAPB	9217	HP:0003202	Skeletal muscle atrophy
OMIM:608627	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:608627	TREM2	54209	HP:0003701	Proximal muscle weakness
OMIM:608627	TREM2	54209	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	TREM2	54209	HP:0001284	Areflexia
OMIM:608627	TREM2	54209	HP:0002015	Dysphagia
OMIM:608627	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	TREM2	54209	HP:0001260	Dysarthria
OMIM:608627	TREM2	54209	HP:0002380	Fasciculations
OMIM:608627	TREM2	54209	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	TREM2	54209	HP:0003394	Muscle cramps
OMIM:608627	TREM2	54209	HP:0002460	Distal muscle weakness
OMIM:608627	TREM2	54209	HP:0003202	Skeletal muscle atrophy
OMIM:608627	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:608627	PON1	5444	HP:0003701	Proximal muscle weakness
OMIM:608627	PON1	5444	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	PON1	5444	HP:0001284	Areflexia
OMIM:608627	PON1	5444	HP:0002015	Dysphagia
OMIM:608627	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	PON1	5444	HP:0001260	Dysarthria
OMIM:608627	PON1	5444	HP:0002380	Fasciculations
OMIM:608627	PON1	5444	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	PON1	5444	HP:0003394	Muscle cramps
OMIM:608627	PON1	5444	HP:0002460	Distal muscle weakness
OMIM:608627	PON1	5444	HP:0003202	Skeletal muscle atrophy
OMIM:608627	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:608627	PON2	5445	HP:0003701	Proximal muscle weakness
OMIM:608627	PON2	5445	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	PON2	5445	HP:0001284	Areflexia
OMIM:608627	PON2	5445	HP:0002015	Dysphagia
OMIM:608627	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	PON2	5445	HP:0001260	Dysarthria
OMIM:608627	PON2	5445	HP:0002380	Fasciculations
OMIM:608627	PON2	5445	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	PON2	5445	HP:0003394	Muscle cramps
OMIM:608627	PON2	5445	HP:0002460	Distal muscle weakness
OMIM:608627	PON2	5445	HP:0003202	Skeletal muscle atrophy
OMIM:608627	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:608627	PON3	5446	HP:0003701	Proximal muscle weakness
OMIM:608627	PON3	5446	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	PON3	5446	HP:0001284	Areflexia
OMIM:608627	PON3	5446	HP:0002015	Dysphagia
OMIM:608627	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	PON3	5446	HP:0001260	Dysarthria
OMIM:608627	PON3	5446	HP:0002380	Fasciculations
OMIM:608627	PON3	5446	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	PON3	5446	HP:0003394	Muscle cramps
OMIM:608627	PON3	5446	HP:0002460	Distal muscle weakness
OMIM:608627	PON3	5446	HP:0003202	Skeletal muscle atrophy
OMIM:608627	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:608627	NEFH	4744	HP:0003701	Proximal muscle weakness
OMIM:608627	NEFH	4744	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	NEFH	4744	HP:0001284	Areflexia
OMIM:608627	NEFH	4744	HP:0002015	Dysphagia
OMIM:608627	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	NEFH	4744	HP:0001260	Dysarthria
OMIM:608627	NEFH	4744	HP:0002380	Fasciculations
OMIM:608627	NEFH	4744	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	NEFH	4744	HP:0003394	Muscle cramps
OMIM:608627	NEFH	4744	HP:0002460	Distal muscle weakness
OMIM:608627	NEFH	4744	HP:0003202	Skeletal muscle atrophy
OMIM:608627	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:608627	DAO	1610	HP:0003701	Proximal muscle weakness
OMIM:608627	DAO	1610	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	DAO	1610	HP:0001284	Areflexia
OMIM:608627	DAO	1610	HP:0002015	Dysphagia
OMIM:608627	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	DAO	1610	HP:0001260	Dysarthria
OMIM:608627	DAO	1610	HP:0002380	Fasciculations
OMIM:608627	DAO	1610	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	DAO	1610	HP:0003394	Muscle cramps
OMIM:608627	DAO	1610	HP:0002460	Distal muscle weakness
OMIM:608627	DAO	1610	HP:0003202	Skeletal muscle atrophy
OMIM:608627	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:608627	TARDBP	23435	HP:0003701	Proximal muscle weakness
OMIM:608627	TARDBP	23435	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	TARDBP	23435	HP:0001284	Areflexia
OMIM:608627	TARDBP	23435	HP:0002015	Dysphagia
OMIM:608627	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	TARDBP	23435	HP:0001260	Dysarthria
OMIM:608627	TARDBP	23435	HP:0002380	Fasciculations
OMIM:608627	TARDBP	23435	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	TARDBP	23435	HP:0003394	Muscle cramps
OMIM:608627	TARDBP	23435	HP:0002460	Distal muscle weakness
OMIM:608627	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:608627	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:608627	PPARGC1A	10891	HP:0003701	Proximal muscle weakness
OMIM:608627	PPARGC1A	10891	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	PPARGC1A	10891	HP:0001284	Areflexia
OMIM:608627	PPARGC1A	10891	HP:0002015	Dysphagia
OMIM:608627	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	PPARGC1A	10891	HP:0001260	Dysarthria
OMIM:608627	PPARGC1A	10891	HP:0002380	Fasciculations
OMIM:608627	PPARGC1A	10891	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	PPARGC1A	10891	HP:0003394	Muscle cramps
OMIM:608627	PPARGC1A	10891	HP:0002460	Distal muscle weakness
OMIM:608627	PPARGC1A	10891	HP:0003202	Skeletal muscle atrophy
OMIM:608627	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:608627	ERBB4	2066	HP:0003701	Proximal muscle weakness
OMIM:608627	ERBB4	2066	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	ERBB4	2066	HP:0001284	Areflexia
OMIM:608627	ERBB4	2066	HP:0002015	Dysphagia
OMIM:608627	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	ERBB4	2066	HP:0001260	Dysarthria
OMIM:608627	ERBB4	2066	HP:0002380	Fasciculations
OMIM:608627	ERBB4	2066	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	ERBB4	2066	HP:0003394	Muscle cramps
OMIM:608627	ERBB4	2066	HP:0002460	Distal muscle weakness
OMIM:608627	ERBB4	2066	HP:0003202	Skeletal muscle atrophy
OMIM:608627	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:608627	CHCHD10	400916	HP:0003701	Proximal muscle weakness
OMIM:608627	CHCHD10	400916	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	CHCHD10	400916	HP:0001284	Areflexia
OMIM:608627	CHCHD10	400916	HP:0002015	Dysphagia
OMIM:608627	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:608627	CHCHD10	400916	HP:0002380	Fasciculations
OMIM:608627	CHCHD10	400916	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	CHCHD10	400916	HP:0003394	Muscle cramps
OMIM:608627	CHCHD10	400916	HP:0002460	Distal muscle weakness
OMIM:608627	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
OMIM:608627	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:608627	OPTN	10133	HP:0003701	Proximal muscle weakness
OMIM:608627	OPTN	10133	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	OPTN	10133	HP:0001284	Areflexia
OMIM:608627	OPTN	10133	HP:0002015	Dysphagia
OMIM:608627	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	OPTN	10133	HP:0001260	Dysarthria
OMIM:608627	OPTN	10133	HP:0002380	Fasciculations
OMIM:608627	OPTN	10133	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	OPTN	10133	HP:0003394	Muscle cramps
OMIM:608627	OPTN	10133	HP:0002460	Distal muscle weakness
OMIM:608627	OPTN	10133	HP:0003202	Skeletal muscle atrophy
OMIM:608627	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:608627	FUS	2521	HP:0003701	Proximal muscle weakness
OMIM:608627	FUS	2521	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	FUS	2521	HP:0001284	Areflexia
OMIM:608627	FUS	2521	HP:0002015	Dysphagia
OMIM:608627	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	FUS	2521	HP:0001260	Dysarthria
OMIM:608627	FUS	2521	HP:0002380	Fasciculations
OMIM:608627	FUS	2521	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	FUS	2521	HP:0003394	Muscle cramps
OMIM:608627	FUS	2521	HP:0002460	Distal muscle weakness
OMIM:608627	FUS	2521	HP:0003202	Skeletal muscle atrophy
OMIM:608627	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:608627	UBQLN2	29978	HP:0003701	Proximal muscle weakness
OMIM:608627	UBQLN2	29978	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	UBQLN2	29978	HP:0001284	Areflexia
OMIM:608627	UBQLN2	29978	HP:0002015	Dysphagia
OMIM:608627	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	UBQLN2	29978	HP:0001260	Dysarthria
OMIM:608627	UBQLN2	29978	HP:0002380	Fasciculations
OMIM:608627	UBQLN2	29978	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	UBQLN2	29978	HP:0003394	Muscle cramps
OMIM:608627	UBQLN2	29978	HP:0002460	Distal muscle weakness
OMIM:608627	UBQLN2	29978	HP:0003202	Skeletal muscle atrophy
OMIM:608627	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:608627	ANG	283	HP:0003701	Proximal muscle weakness
OMIM:608627	ANG	283	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	ANG	283	HP:0001284	Areflexia
OMIM:608627	ANG	283	HP:0002015	Dysphagia
OMIM:608627	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	ANG	283	HP:0001260	Dysarthria
OMIM:608627	ANG	283	HP:0002380	Fasciculations
OMIM:608627	ANG	283	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	ANG	283	HP:0003394	Muscle cramps
OMIM:608627	ANG	283	HP:0002460	Distal muscle weakness
OMIM:608627	ANG	283	HP:0003202	Skeletal muscle atrophy
OMIM:608627	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:608627	C9ORF72	203228	HP:0003701	Proximal muscle weakness
OMIM:608627	C9ORF72	203228	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	C9ORF72	203228	HP:0001284	Areflexia
OMIM:608627	C9ORF72	203228	HP:0002015	Dysphagia
OMIM:608627	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:608627	C9ORF72	203228	HP:0002380	Fasciculations
OMIM:608627	C9ORF72	203228	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	C9ORF72	203228	HP:0003394	Muscle cramps
OMIM:608627	C9ORF72	203228	HP:0002460	Distal muscle weakness
OMIM:608627	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:608627	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:608627	PFN1	5216	HP:0003701	Proximal muscle weakness
OMIM:608627	PFN1	5216	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	PFN1	5216	HP:0001284	Areflexia
OMIM:608627	PFN1	5216	HP:0002015	Dysphagia
OMIM:608627	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	PFN1	5216	HP:0001260	Dysarthria
OMIM:608627	PFN1	5216	HP:0002380	Fasciculations
OMIM:608627	PFN1	5216	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	PFN1	5216	HP:0003394	Muscle cramps
OMIM:608627	PFN1	5216	HP:0002460	Distal muscle weakness
OMIM:608627	PFN1	5216	HP:0003202	Skeletal muscle atrophy
OMIM:608627	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:608627	ATXN2	6311	HP:0003701	Proximal muscle weakness
OMIM:608627	ATXN2	6311	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	ATXN2	6311	HP:0001284	Areflexia
OMIM:608627	ATXN2	6311	HP:0002015	Dysphagia
OMIM:608627	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	ATXN2	6311	HP:0001260	Dysarthria
OMIM:608627	ATXN2	6311	HP:0002380	Fasciculations
OMIM:608627	ATXN2	6311	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	ATXN2	6311	HP:0003394	Muscle cramps
OMIM:608627	ATXN2	6311	HP:0002460	Distal muscle weakness
OMIM:608627	ATXN2	6311	HP:0003202	Skeletal muscle atrophy
OMIM:608627	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:608627	DCTN1	1639	HP:0003701	Proximal muscle weakness
OMIM:608627	DCTN1	1639	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	DCTN1	1639	HP:0001284	Areflexia
OMIM:608627	DCTN1	1639	HP:0002015	Dysphagia
OMIM:608627	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	DCTN1	1639	HP:0001260	Dysarthria
OMIM:608627	DCTN1	1639	HP:0002380	Fasciculations
OMIM:608627	DCTN1	1639	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	DCTN1	1639	HP:0003394	Muscle cramps
OMIM:608627	DCTN1	1639	HP:0002460	Distal muscle weakness
OMIM:608627	DCTN1	1639	HP:0003202	Skeletal muscle atrophy
OMIM:608627	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:608627	FIG4	9896	HP:0003701	Proximal muscle weakness
OMIM:608627	FIG4	9896	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	FIG4	9896	HP:0001284	Areflexia
OMIM:608627	FIG4	9896	HP:0002015	Dysphagia
OMIM:608627	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	FIG4	9896	HP:0001260	Dysarthria
OMIM:608627	FIG4	9896	HP:0002380	Fasciculations
OMIM:608627	FIG4	9896	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	FIG4	9896	HP:0003394	Muscle cramps
OMIM:608627	FIG4	9896	HP:0002460	Distal muscle weakness
OMIM:608627	FIG4	9896	HP:0003202	Skeletal muscle atrophy
OMIM:608627	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:608627	HNRNPA1	3178	HP:0003701	Proximal muscle weakness
OMIM:608627	HNRNPA1	3178	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	HNRNPA1	3178	HP:0001284	Areflexia
OMIM:608627	HNRNPA1	3178	HP:0002015	Dysphagia
OMIM:608627	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	HNRNPA1	3178	HP:0001260	Dysarthria
OMIM:608627	HNRNPA1	3178	HP:0002380	Fasciculations
OMIM:608627	HNRNPA1	3178	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	HNRNPA1	3178	HP:0003394	Muscle cramps
OMIM:608627	HNRNPA1	3178	HP:0002460	Distal muscle weakness
OMIM:608627	HNRNPA1	3178	HP:0003202	Skeletal muscle atrophy
OMIM:608627	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:608627	SQSTM1	8878	HP:0003701	Proximal muscle weakness
OMIM:608627	SQSTM1	8878	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	SQSTM1	8878	HP:0001284	Areflexia
OMIM:608627	SQSTM1	8878	HP:0002015	Dysphagia
OMIM:608627	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:608627	SQSTM1	8878	HP:0002380	Fasciculations
OMIM:608627	SQSTM1	8878	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	SQSTM1	8878	HP:0003394	Muscle cramps
OMIM:608627	SQSTM1	8878	HP:0002460	Distal muscle weakness
OMIM:608627	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:608627	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:608627	UNC13A	23025	HP:0003701	Proximal muscle weakness
OMIM:608627	UNC13A	23025	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	UNC13A	23025	HP:0001284	Areflexia
OMIM:608627	UNC13A	23025	HP:0002015	Dysphagia
OMIM:608627	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	UNC13A	23025	HP:0001260	Dysarthria
OMIM:608627	UNC13A	23025	HP:0002380	Fasciculations
OMIM:608627	UNC13A	23025	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	UNC13A	23025	HP:0003394	Muscle cramps
OMIM:608627	UNC13A	23025	HP:0002460	Distal muscle weakness
OMIM:608627	UNC13A	23025	HP:0003202	Skeletal muscle atrophy
OMIM:608627	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:608627	MATR3	9782	HP:0003701	Proximal muscle weakness
OMIM:608627	MATR3	9782	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	MATR3	9782	HP:0001284	Areflexia
OMIM:608627	MATR3	9782	HP:0002015	Dysphagia
OMIM:608627	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	MATR3	9782	HP:0001260	Dysarthria
OMIM:608627	MATR3	9782	HP:0002380	Fasciculations
OMIM:608627	MATR3	9782	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	MATR3	9782	HP:0003394	Muscle cramps
OMIM:608627	MATR3	9782	HP:0002460	Distal muscle weakness
OMIM:608627	MATR3	9782	HP:0003202	Skeletal muscle atrophy
OMIM:608627	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:608627	TBK1	29110	HP:0003701	Proximal muscle weakness
OMIM:608627	TBK1	29110	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	TBK1	29110	HP:0001284	Areflexia
OMIM:608627	TBK1	29110	HP:0002015	Dysphagia
OMIM:608627	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	TBK1	29110	HP:0001260	Dysarthria
OMIM:608627	TBK1	29110	HP:0002380	Fasciculations
OMIM:608627	TBK1	29110	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	TBK1	29110	HP:0003394	Muscle cramps
OMIM:608627	TBK1	29110	HP:0002460	Distal muscle weakness
OMIM:608627	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:608627	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:608627	SOD1	6647	HP:0003701	Proximal muscle weakness
OMIM:608627	SOD1	6647	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	SOD1	6647	HP:0001284	Areflexia
OMIM:608627	SOD1	6647	HP:0002015	Dysphagia
OMIM:608627	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	SOD1	6647	HP:0001260	Dysarthria
OMIM:608627	SOD1	6647	HP:0002380	Fasciculations
OMIM:608627	SOD1	6647	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	SOD1	6647	HP:0003394	Muscle cramps
OMIM:608627	SOD1	6647	HP:0002460	Distal muscle weakness
OMIM:608627	SOD1	6647	HP:0003202	Skeletal muscle atrophy
OMIM:608627	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:608627	VCP	7415	HP:0003701	Proximal muscle weakness
OMIM:608627	VCP	7415	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	VCP	7415	HP:0001284	Areflexia
OMIM:608627	VCP	7415	HP:0002015	Dysphagia
OMIM:608627	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	VCP	7415	HP:0001260	Dysarthria
OMIM:608627	VCP	7415	HP:0002380	Fasciculations
OMIM:608627	VCP	7415	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	VCP	7415	HP:0003394	Muscle cramps
OMIM:608627	VCP	7415	HP:0002460	Distal muscle weakness
OMIM:608627	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:608627	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:608627	CHMP2B	25978	HP:0003701	Proximal muscle weakness
OMIM:608627	CHMP2B	25978	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	CHMP2B	25978	HP:0001284	Areflexia
OMIM:608627	CHMP2B	25978	HP:0002015	Dysphagia
OMIM:608627	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	CHMP2B	25978	HP:0001260	Dysarthria
OMIM:608627	CHMP2B	25978	HP:0002380	Fasciculations
OMIM:608627	CHMP2B	25978	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	CHMP2B	25978	HP:0003394	Muscle cramps
OMIM:608627	CHMP2B	25978	HP:0002460	Distal muscle weakness
OMIM:608627	CHMP2B	25978	HP:0003202	Skeletal muscle atrophy
OMIM:608627	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:608627	PRPH	5630	HP:0003701	Proximal muscle weakness
OMIM:608627	PRPH	5630	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:608627	PRPH	5630	HP:0001284	Areflexia
OMIM:608627	PRPH	5630	HP:0002015	Dysphagia
OMIM:608627	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:608627	PRPH	5630	HP:0001260	Dysarthria
OMIM:608627	PRPH	5630	HP:0002380	Fasciculations
OMIM:608627	PRPH	5630	HP:0002529	Neuronal loss in central nervous system
OMIM:608627	PRPH	5630	HP:0003394	Muscle cramps
OMIM:608627	PRPH	5630	HP:0002460	Distal muscle weakness
OMIM:608627	PRPH	5630	HP:0003202	Skeletal muscle atrophy
ORPHANET:1329	NR2F2	7026	HP:0001671	Abnormality of the cardiac septa
OMIM:614380	C4A	720	HP:0004431	Complement deficiency
OMIM:614380	C4A	720	HP:0000099	Glomerulonephritis
OMIM:614380	C4A	720	HP:0002725	Systemic lupus erythematosus
OMIM:614380	C4A	720	HP:0000007	Autosomal recessive inheritance
OMIM:614380	C4A	720	HP:0000992	Cutaneous photosensitivity
OMIM:614380	C4A	720	HP:0002633	Vasculitis
OMIM:614380	C4B	721	HP:0004431	Complement deficiency
OMIM:614380	C4B	721	HP:0000099	Glomerulonephritis
OMIM:614380	C4B	721	HP:0002725	Systemic lupus erythematosus
OMIM:614380	C4B	721	HP:0000007	Autosomal recessive inheritance
OMIM:614380	C4B	721	HP:0000992	Cutaneous photosensitivity
OMIM:614380	C4B	721	HP:0002633	Vasculitis
OMIM:614380	SERPING1	710	HP:0004431	Complement deficiency
OMIM:614380	SERPING1	710	HP:0000099	Glomerulonephritis
OMIM:614380	SERPING1	710	HP:0002725	Systemic lupus erythematosus
OMIM:614380	SERPING1	710	HP:0000007	Autosomal recessive inheritance
OMIM:614380	SERPING1	710	HP:0000992	Cutaneous photosensitivity
OMIM:614380	SERPING1	710	HP:0002633	Vasculitis
OMIM:614380	C1QA	712	HP:0004431	Complement deficiency
OMIM:614380	C1QA	712	HP:0000099	Glomerulonephritis
OMIM:614380	C1QA	712	HP:0002725	Systemic lupus erythematosus
OMIM:614380	C1QA	712	HP:0000007	Autosomal recessive inheritance
OMIM:614380	C1QA	712	HP:0000992	Cutaneous photosensitivity
OMIM:614380	C1QA	712	HP:0002633	Vasculitis
OMIM:614380	C1QB	713	HP:0004431	Complement deficiency
OMIM:614380	C1QB	713	HP:0000099	Glomerulonephritis
OMIM:614380	C1QB	713	HP:0002725	Systemic lupus erythematosus
OMIM:614380	C1QB	713	HP:0000007	Autosomal recessive inheritance
OMIM:614380	C1QB	713	HP:0000992	Cutaneous photosensitivity
OMIM:614380	C1QB	713	HP:0002633	Vasculitis
OMIM:614380	C1QC	714	HP:0004431	Complement deficiency
OMIM:614380	C1QC	714	HP:0000099	Glomerulonephritis
OMIM:614380	C1QC	714	HP:0002725	Systemic lupus erythematosus
OMIM:614380	C1QC	714	HP:0000007	Autosomal recessive inheritance
OMIM:614380	C1QC	714	HP:0000992	Cutaneous photosensitivity
OMIM:614380	C1QC	714	HP:0002633	Vasculitis
OMIM:614380	C1R	715	HP:0004431	Complement deficiency
OMIM:614380	C1R	715	HP:0000099	Glomerulonephritis
OMIM:614380	C1R	715	HP:0002725	Systemic lupus erythematosus
OMIM:614380	C1R	715	HP:0000007	Autosomal recessive inheritance
OMIM:614380	C1R	715	HP:0000992	Cutaneous photosensitivity
OMIM:614380	C1R	715	HP:0002633	Vasculitis
OMIM:614380	C1S	716	HP:0004431	Complement deficiency
OMIM:614380	C1S	716	HP:0000099	Glomerulonephritis
OMIM:614380	C1S	716	HP:0002725	Systemic lupus erythematosus
OMIM:614380	C1S	716	HP:0000007	Autosomal recessive inheritance
OMIM:614380	C1S	716	HP:0000992	Cutaneous photosensitivity
OMIM:614380	C1S	716	HP:0002633	Vasculitis
OMIM:614380	C2	717	HP:0004431	Complement deficiency
OMIM:614380	C2	717	HP:0000099	Glomerulonephritis
OMIM:614380	C2	717	HP:0002725	Systemic lupus erythematosus
OMIM:614380	C2	717	HP:0000007	Autosomal recessive inheritance
OMIM:614380	C2	717	HP:0000992	Cutaneous photosensitivity
OMIM:614380	C2	717	HP:0002633	Vasculitis
OMIM:612852	IL1RN	3557	HP:0002829	Arthralgia
OMIM:612852	IL1RN	3557	HP:0002949	Fused cervical vertebrae
OMIM:612852	IL1RN	3557	HP:0002240	Hepatomegaly
OMIM:612852	IL1RN	3557	HP:0000007	Autosomal recessive inheritance
OMIM:612852	IL1RN	3557	HP:0010280	Stomatitis
OMIM:612852	IL1RN	3557	HP:0000962	Hyperkeratosis
OMIM:612852	IL1RN	3557	HP:0002754	Osteomyelitis
OMIM:612852	IL1RN	3557	HP:0001744	Splenomegaly
OMIM:612852	IL1RN	3557	HP:0002098	Respiratory distress
OMIM:136820	FUCA2	2519	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:601499	FOXC1	2296	HP:0000431	Wide nasal bridge
OMIM:601499	FOXC1	2296	HP:0000618	Blindness
OMIM:601499	FOXC1	2296	HP:0007759	Opacification of the corneal stroma
OMIM:601499	FOXC1	2296	HP:0001537	Umbilical hernia
OMIM:601499	FOXC1	2296	HP:0000238	Hydrocephalus
OMIM:601499	FOXC1	2296	HP:0000506	Telecanthus
OMIM:601499	FOXC1	2296	HP:0002025	Anal stenosis
OMIM:601499	FOXC1	2296	HP:0000232	Everted lower lip vermilion
OMIM:601499	FOXC1	2296	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:601499	FOXC1	2296	HP:0000668	Hypodontia
OMIM:601499	FOXC1	2296	HP:0000365	Hearing impairment
OMIM:601499	FOXC1	2296	HP:0000327	Hypoplasia of the maxilla
OMIM:601499	FOXC1	2296	HP:0000303	Mandibular prognathia
OMIM:601499	FOXC1	2296	HP:0000501	Glaucoma
OMIM:601499	FOXC1	2296	HP:0000023	Inguinal hernia
OMIM:601499	FOXC1	2296	HP:0000028	Cryptorchidism
OMIM:601499	FOXC1	2296	HP:0000006	Autosomal dominant inheritance
OMIM:601499	FOXC1	2296	HP:0000322	Short philtrum
OMIM:601499	FOXC1	2296	HP:0000482	Microcornea
OMIM:601499	FOXC1	2296	HP:0000316	Hypertelorism
OMIM:601499	FOXC1	2296	HP:0000047	Hypospadias
OMIM:601499	FOXC1	2296	HP:0000691	Microdontia
OMIM:601499	PITX2	5308	HP:0000431	Wide nasal bridge
OMIM:601499	PITX2	5308	HP:0000618	Blindness
OMIM:601499	PITX2	5308	HP:0007759	Opacification of the corneal stroma
OMIM:601499	PITX2	5308	HP:0001537	Umbilical hernia
OMIM:601499	PITX2	5308	HP:0000238	Hydrocephalus
OMIM:601499	PITX2	5308	HP:0000506	Telecanthus
OMIM:601499	PITX2	5308	HP:0002025	Anal stenosis
OMIM:601499	PITX2	5308	HP:0000232	Everted lower lip vermilion
OMIM:601499	PITX2	5308	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:601499	PITX2	5308	HP:0000668	Hypodontia
OMIM:601499	PITX2	5308	HP:0000365	Hearing impairment
OMIM:601499	PITX2	5308	HP:0000327	Hypoplasia of the maxilla
OMIM:601499	PITX2	5308	HP:0000303	Mandibular prognathia
OMIM:601499	PITX2	5308	HP:0000501	Glaucoma
OMIM:601499	PITX2	5308	HP:0000023	Inguinal hernia
OMIM:601499	PITX2	5308	HP:0000028	Cryptorchidism
OMIM:601499	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:601499	PITX2	5308	HP:0000322	Short philtrum
OMIM:601499	PITX2	5308	HP:0000482	Microcornea
OMIM:601499	PITX2	5308	HP:0000316	Hypertelorism
OMIM:601499	PITX2	5308	HP:0000047	Hypospadias
OMIM:601499	PITX2	5308	HP:0000691	Microdontia
OMIM:616329	CEL	1056	HP:0009800	Maternal diabetes
OMIM:616329	BLK	640	HP:0009800	Maternal diabetes
OMIM:616329	PDX1	3651	HP:0009800	Maternal diabetes
OMIM:616329	HNF4A	3172	HP:0009800	Maternal diabetes
OMIM:616329	APPL1	26060	HP:0009800	Maternal diabetes
OMIM:616329	KLF11	8462	HP:0009800	Maternal diabetes
OMIM:616329	INS	3630	HP:0009800	Maternal diabetes
OMIM:616329	HNF1A	6927	HP:0009800	Maternal diabetes
OMIM:616329	ABCC8	6833	HP:0009800	Maternal diabetes
OMIM:616329	GCK	2645	HP:0009800	Maternal diabetes
OMIM:616329	PAX4	5078	HP:0009800	Maternal diabetes
OMIM:616329	KCNJ11	3767	HP:0009800	Maternal diabetes
OMIM:616329	NEUROD1	4760	HP:0009800	Maternal diabetes
OMIM:613204	ITGA7	3679	HP:0003593	Infantile onset
OMIM:613204	ITGA7	3679	HP:0002650	Scoliosis
OMIM:613204	ITGA7	3679	HP:0003202	Skeletal muscle atrophy
OMIM:613204	ITGA7	3679	HP:0001319	Neonatal hypotonia
OMIM:613204	ITGA7	3679	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613204	ITGA7	3679	HP:0001270	Motor delay
OMIM:613204	ITGA7	3679	HP:0001249	Intellectual disability
OMIM:613204	ITGA7	3679	HP:0000007	Autosomal recessive inheritance
OMIM:613204	ITGA7	3679	HP:0003198	Myopathy
OMIM:613204	ITGA7	3679	HP:0100543	Cognitive impairment
OMIM:613204	ITGA7	3679	HP:0003741	Congenital muscular dystrophy
OMIM:210720	PCNT	5116	HP:0002205	Recurrent respiratory infections
OMIM:210720	PCNT	5116	HP:0000430	Underdeveloped nasal alae
OMIM:210720	PCNT	5116	HP:0008897	Postnatal growth retardation
OMIM:210720	PCNT	5116	HP:0002986	Radial bowing
OMIM:210720	PCNT	5116	HP:0002777	Tracheal stenosis
OMIM:210720	PCNT	5116	HP:0001620	High pitched voice
OMIM:210720	PCNT	5116	HP:0001643	Patent ductus arteriosus
OMIM:210720	PCNT	5116	HP:0001156	Brachydactyly syndrome
OMIM:210720	PCNT	5116	HP:0000007	Autosomal recessive inheritance
OMIM:210720	PCNT	5116	HP:0001601	Laryngomalacia
OMIM:210720	PCNT	5116	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:210720	PCNT	5116	HP:0000826	Precocious puberty
OMIM:210720	PCNT	5116	HP:0002650	Scoliosis
OMIM:210720	PCNT	5116	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:210720	PCNT	5116	HP:0002119	Ventriculomegaly
OMIM:210720	PCNT	5116	HP:0000882	Hypoplastic scapulae
OMIM:210720	PCNT	5116	HP:0003272	Abnormality of the hip bone
OMIM:210720	PCNT	5116	HP:0005978	Type II diabetes mellitus
OMIM:210720	PCNT	5116	HP:0001053	Hypopigmented skin patches
OMIM:210720	PCNT	5116	HP:0001956	Truncal obesity
OMIM:210720	PCNT	5116	HP:0000540	Hypermetropia
OMIM:210720	PCNT	5116	HP:0003015	Flared metaphysis
OMIM:210720	PCNT	5116	HP:0001250	Seizures
OMIM:210720	PCNT	5116	HP:0001263	Global developmental delay
OMIM:210720	PCNT	5116	HP:0000047	Hypospadias
OMIM:210720	PCNT	5116	HP:0002637	Cerebral ischemia
OMIM:210720	PCNT	5116	HP:0000431	Wide nasal bridge
OMIM:210720	PCNT	5116	HP:0001631	Atria septal defect
OMIM:210720	PCNT	5116	HP:0007018	Attention deficit hyperactivity disorder
OMIM:210720	PCNT	5116	HP:0002750	Delayed skeletal maturation
OMIM:210720	PCNT	5116	HP:0001249	Intellectual disability
OMIM:210720	PCNT	5116	HP:0000448	Prominent nose
OMIM:210720	PCNT	5116	HP:0001511	Intrauterine growth retardation
OMIM:210720	PCNT	5116	HP:0002812	Coxa vara
OMIM:210720	PCNT	5116	HP:0002209	Sparse scalp hair
OMIM:210720	PCNT	5116	HP:0100543	Cognitive impairment
OMIM:210720	PCNT	5116	HP:0000278	Retrognathia
OMIM:210720	PCNT	5116	HP:0000774	Narrow chest
OMIM:210720	PCNT	5116	HP:0002983	Micromelia
OMIM:210720	PCNT	5116	HP:0003100	Slender long bone
OMIM:210720	PCNT	5116	HP:0000958	Dry skin
OMIM:210720	PCNT	5116	HP:0009882	Short distal phalanx of finger
OMIM:210720	PCNT	5116	HP:0000691	Microdontia
OMIM:210720	PCNT	5116	HP:0002213	Fine hair
OMIM:210720	PCNT	5116	HP:0000944	Abnormality of the metaphyses
OMIM:210720	PCNT	5116	HP:0003498	Disproportionate short stature
OMIM:210720	PCNT	5116	HP:0000252	Microcephaly
OMIM:210720	PCNT	5116	HP:0000293	Full cheeks
OMIM:210720	PCNT	5116	HP:0000581	Blepharophimosis
OMIM:210720	PCNT	5116	HP:0000582	Upslanted palpebral fissure
OMIM:210720	PCNT	5116	HP:0001903	Anemia
OMIM:210720	PCNT	5116	HP:0000494	Downslanted palpebral fissures
OMIM:210720	PCNT	5116	HP:0000055	Abnormality of female external genitalia
OMIM:210720	PCNT	5116	HP:0005819	Short middle phalanx of finger
OMIM:210720	PCNT	5116	HP:0000957	Cafe-au-lait spot
OMIM:210720	PCNT	5116	HP:0009804	Reduced number of teeth
OMIM:210720	PCNT	5116	HP:0001382	Joint hypermobility
OMIM:210720	PCNT	5116	HP:0008551	Microtia
OMIM:210720	PCNT	5116	HP:0010583	Ivory epiphyses
OMIM:210720	PCNT	5116	HP:0000426	Prominent nasal bridge
OMIM:210720	PCNT	5116	HP:0000407	Sensorineural hearing impairment
OMIM:210720	PCNT	5116	HP:0001608	Abnormality of the voice
OMIM:210720	PCNT	5116	HP:0004209	Clinodactyly of the 5th finger
OMIM:210720	PCNT	5116	HP:0000347	Micrognathia
OMIM:210720	PCNT	5116	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:210720	PCNT	5116	HP:0000368	Low-set, posteriorly rotated ears
OMIM:210720	PCNT	5116	HP:0006297	Hypoplasia of dental enamel
OMIM:210720	PCNT	5116	HP:0010034	Short 1st metacarpal
OMIM:210720	PCNT	5116	HP:0010579	Cone-shaped epiphysis
OMIM:210720	PCNT	5116	HP:0000340	Sloping forehead
OMIM:210720	PCNT	5116	HP:0002982	Tibial bowing
OMIM:300147	BRCA1	672	HP:0001417	X-linked inheritance
OMIM:300147	BRCA1	672	HP:0012125	Prostate cancer
OMIM:300147	CHEK2	11200	HP:0001417	X-linked inheritance
OMIM:300147	CHEK2	11200	HP:0012125	Prostate cancer
OMIM:300147	ELAC2	60528	HP:0001417	X-linked inheritance
OMIM:300147	ELAC2	60528	HP:0012125	Prostate cancer
OMIM:300147	EPHB2	2048	HP:0001417	X-linked inheritance
OMIM:300147	EPHB2	2048	HP:0012125	Prostate cancer
OMIM:300147	HNF1B	6928	HP:0001417	X-linked inheritance
OMIM:300147	HNF1B	6928	HP:0012125	Prostate cancer
OMIM:300147	HOXB13	10481	HP:0001417	X-linked inheritance
OMIM:300147	HOXB13	10481	HP:0012125	Prostate cancer
OMIM:300147	MSR1	4481	HP:0001417	X-linked inheritance
OMIM:300147	MSR1	4481	HP:0012125	Prostate cancer
OMIM:300147	BRCA2	675	HP:0001417	X-linked inheritance
OMIM:300147	BRCA2	675	HP:0012125	Prostate cancer
OMIM:300147	RNASEL	6041	HP:0001417	X-linked inheritance
OMIM:300147	RNASEL	6041	HP:0012125	Prostate cancer
OMIM:300147	NBN	4683	HP:0001417	X-linked inheritance
OMIM:300147	NBN	4683	HP:0012125	Prostate cancer
OMIM:300147	SRD5A2	6716	HP:0001417	X-linked inheritance
OMIM:300147	SRD5A2	6716	HP:0012125	Prostate cancer
OMIM:300147	MSMB	4477	HP:0001417	X-linked inheritance
OMIM:300147	MSMB	4477	HP:0012125	Prostate cancer
OMIM:215520	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:215520	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:215520	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:215520	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:215520	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:215520	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:215520	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:215520	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:215520	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:215520	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:215520	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:215520	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:215520	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:215520	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:215520	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:215520	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:215520	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:215520	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:215520	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:215520	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:215520	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:215520	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:215520	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:215520	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:215520	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:215520	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:215520	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:215520	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:215520	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:215520	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:215520	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:215520	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:615704	FAM111B	374393	HP:0000006	Autosomal dominant inheritance
OMIM:615704	FAM111B	374393	HP:0002650	Scoliosis
OMIM:615704	FAM111B	374393	HP:0002164	Nail dysplasia
OMIM:615704	FAM111B	374393	HP:0000518	Cataract
OMIM:615704	FAM111B	374393	HP:0001596	Alopecia
OMIM:615704	FAM111B	374393	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615704	FAM111B	374393	HP:0000966	Hypohidrosis
OMIM:615704	FAM111B	374393	HP:0003202	Skeletal muscle atrophy
OMIM:615420	PRIMPOL	201973	HP:0000505	Visual impairment
OMIM:615420	PRIMPOL	201973	HP:0000545	Myopia
OMIM:615420	PRIMPOL	201973	HP:0007663	Reduced visual acuity
OMIM:615420	PRIMPOL	201973	HP:0000006	Autosomal dominant inheritance
OMIM:308800	MBTPS2	51360	HP:0000958	Dry skin
OMIM:308800	MBTPS2	51360	HP:0000498	Blepharitis
OMIM:308800	MBTPS2	51360	HP:0000613	Photophobia
OMIM:308800	MBTPS2	51360	HP:0001425	Heterogeneous
OMIM:308800	MBTPS2	51360	HP:0000982	Palmoplantar keratoderma
OMIM:308800	MBTPS2	51360	HP:0007502	Follicular hyperkeratosis
OMIM:308800	MBTPS2	51360	HP:0000653	Sparse eyelashes
OMIM:308800	MBTPS2	51360	HP:0000535	Sparse eyebrow
OMIM:308800	MBTPS2	51360	HP:0000509	Conjunctivitis
OMIM:308800	MBTPS2	51360	HP:0001419	X-linked recessive inheritance
OMIM:308800	MBTPS2	51360	HP:0000491	Keratitis
OMIM:308800	MBTPS2	51360	HP:0001131	Corneal dystrophy
OMIM:308800	MBTPS2	51360	HP:0002164	Nail dysplasia
OMIM:308800	SAT1	6303	HP:0000958	Dry skin
OMIM:308800	SAT1	6303	HP:0000498	Blepharitis
OMIM:308800	SAT1	6303	HP:0000613	Photophobia
OMIM:308800	SAT1	6303	HP:0001425	Heterogeneous
OMIM:308800	SAT1	6303	HP:0000982	Palmoplantar keratoderma
OMIM:308800	SAT1	6303	HP:0007502	Follicular hyperkeratosis
OMIM:308800	SAT1	6303	HP:0000653	Sparse eyelashes
OMIM:308800	SAT1	6303	HP:0000535	Sparse eyebrow
OMIM:308800	SAT1	6303	HP:0000509	Conjunctivitis
OMIM:308800	SAT1	6303	HP:0001419	X-linked recessive inheritance
OMIM:308800	SAT1	6303	HP:0000491	Keratitis
OMIM:308800	SAT1	6303	HP:0001131	Corneal dystrophy
OMIM:308800	SAT1	6303	HP:0002164	Nail dysplasia
OMIM:154276	RYR1	6261	HP:0001276	Hypertonia
OMIM:154276	RYR1	6261	HP:0001425	Heterogeneous
OMIM:154276	RYR1	6261	HP:0003236	Elevated serum creatine phosphokinase
OMIM:154276	RYR1	6261	HP:0002905	Hyperphosphatemia
OMIM:154276	RYR1	6261	HP:0002153	Hyperkalemia
OMIM:154276	RYR1	6261	HP:0003128	Lactic acidosis
OMIM:154276	RYR1	6261	HP:0003198	Myopathy
OMIM:154276	RYR1	6261	HP:0001945	Fever
OMIM:154276	CACNA1S	779	HP:0001276	Hypertonia
OMIM:154276	CACNA1S	779	HP:0001425	Heterogeneous
OMIM:154276	CACNA1S	779	HP:0003236	Elevated serum creatine phosphokinase
OMIM:154276	CACNA1S	779	HP:0002905	Hyperphosphatemia
OMIM:154276	CACNA1S	779	HP:0002153	Hyperkalemia
OMIM:154276	CACNA1S	779	HP:0003128	Lactic acidosis
OMIM:154276	CACNA1S	779	HP:0003198	Myopathy
OMIM:154276	CACNA1S	779	HP:0001945	Fever
OMIM:600208	MYH9	4627	HP:0001873	Thrombocytopenia
OMIM:600208	MYH9	4627	HP:0000079	Abnormality of the urinary system
OMIM:600208	MYH9	4627	HP:0000978	Bruising susceptibility
OMIM:600208	MYH9	4627	HP:0001892	Abnormal bleeding
OMIM:600208	MYH9	4627	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600208	MYH9	4627	HP:0003010	Prolonged bleeding time
OMIM:600208	MYH9	4627	HP:0000478	Abnormality of the eye
OMIM:600208	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:214110	PEX19	5824	HP:0002104	Apnea
OMIM:214110	PEX19	5824	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX19	5824	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX19	5824	HP:0000239	Large fontanelles
OMIM:214110	PEX19	5824	HP:0000286	Epicanthus
OMIM:214110	PEX19	5824	HP:0012385	Camptodactyly
OMIM:214110	PEX19	5824	HP:0003819	Death in childhood
OMIM:214110	PEX19	5824	HP:0000518	Cataract
OMIM:214110	PEX19	5824	HP:0000175	Cleft palate
OMIM:214110	PEX19	5824	HP:0002967	Cubitus valgus
OMIM:214110	PEX19	5824	HP:0001250	Seizures
OMIM:214110	PEX19	5824	HP:0003355	Aminoaciduria
OMIM:214110	PEX19	5824	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX19	5824	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX19	5824	HP:0001284	Areflexia
OMIM:214110	PEX19	5824	HP:0001249	Intellectual disability
OMIM:214110	PEX19	5824	HP:0000268	Dolichocephaly
OMIM:214110	PEX19	5824	HP:0002033	Poor suck
OMIM:214110	PEX19	5824	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX19	5824	HP:0001508	Failure to thrive
OMIM:214110	PEX19	5824	HP:0000262	Turricephaly
OMIM:214110	PEX19	5824	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX19	5824	HP:0000348	High forehead
OMIM:214110	PEX19	5824	HP:0000028	Cryptorchidism
OMIM:214110	PEX19	5824	HP:0001762	Talipes equinovarus
OMIM:214110	PEX19	5824	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX19	5824	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX19	5824	HP:0001840	Metatarsus adductus
OMIM:214110	PEX19	5824	HP:0011039	Abnormality of the helix
OMIM:214110	PEX19	5824	HP:0000952	Jaundice
OMIM:214110	PEX19	5824	HP:0000316	Hypertelorism
OMIM:214110	PEX19	5824	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX19	5824	HP:0001252	Muscular hypotonia
OMIM:214110	PEX19	5824	HP:0002240	Hepatomegaly
OMIM:214110	PEX19	5824	HP:0000057	Clitoromegaly
OMIM:214110	PEX19	5824	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX16	9409	HP:0002104	Apnea
OMIM:214110	PEX16	9409	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX16	9409	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX16	9409	HP:0000239	Large fontanelles
OMIM:214110	PEX16	9409	HP:0000286	Epicanthus
OMIM:214110	PEX16	9409	HP:0012385	Camptodactyly
OMIM:214110	PEX16	9409	HP:0003819	Death in childhood
OMIM:214110	PEX16	9409	HP:0000518	Cataract
OMIM:214110	PEX16	9409	HP:0000175	Cleft palate
OMIM:214110	PEX16	9409	HP:0002967	Cubitus valgus
OMIM:214110	PEX16	9409	HP:0001250	Seizures
OMIM:214110	PEX16	9409	HP:0003355	Aminoaciduria
OMIM:214110	PEX16	9409	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX16	9409	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX16	9409	HP:0001284	Areflexia
OMIM:214110	PEX16	9409	HP:0001249	Intellectual disability
OMIM:214110	PEX16	9409	HP:0000268	Dolichocephaly
OMIM:214110	PEX16	9409	HP:0002033	Poor suck
OMIM:214110	PEX16	9409	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX16	9409	HP:0001508	Failure to thrive
OMIM:214110	PEX16	9409	HP:0000262	Turricephaly
OMIM:214110	PEX16	9409	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX16	9409	HP:0000348	High forehead
OMIM:214110	PEX16	9409	HP:0000028	Cryptorchidism
OMIM:214110	PEX16	9409	HP:0001762	Talipes equinovarus
OMIM:214110	PEX16	9409	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX16	9409	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX16	9409	HP:0001840	Metatarsus adductus
OMIM:214110	PEX16	9409	HP:0011039	Abnormality of the helix
OMIM:214110	PEX16	9409	HP:0000952	Jaundice
OMIM:214110	PEX16	9409	HP:0000316	Hypertelorism
OMIM:214110	PEX16	9409	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX16	9409	HP:0001252	Muscular hypotonia
OMIM:214110	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:214110	PEX16	9409	HP:0000057	Clitoromegaly
OMIM:214110	PEX16	9409	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX2	5828	HP:0002104	Apnea
OMIM:214110	PEX2	5828	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX2	5828	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX2	5828	HP:0000239	Large fontanelles
OMIM:214110	PEX2	5828	HP:0000286	Epicanthus
OMIM:214110	PEX2	5828	HP:0012385	Camptodactyly
OMIM:214110	PEX2	5828	HP:0003819	Death in childhood
OMIM:214110	PEX2	5828	HP:0000518	Cataract
OMIM:214110	PEX2	5828	HP:0000175	Cleft palate
OMIM:214110	PEX2	5828	HP:0002967	Cubitus valgus
OMIM:214110	PEX2	5828	HP:0001250	Seizures
OMIM:214110	PEX2	5828	HP:0003355	Aminoaciduria
OMIM:214110	PEX2	5828	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX2	5828	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX2	5828	HP:0001284	Areflexia
OMIM:214110	PEX2	5828	HP:0001249	Intellectual disability
OMIM:214110	PEX2	5828	HP:0000268	Dolichocephaly
OMIM:214110	PEX2	5828	HP:0002033	Poor suck
OMIM:214110	PEX2	5828	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX2	5828	HP:0001508	Failure to thrive
OMIM:214110	PEX2	5828	HP:0000262	Turricephaly
OMIM:214110	PEX2	5828	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX2	5828	HP:0000348	High forehead
OMIM:214110	PEX2	5828	HP:0000028	Cryptorchidism
OMIM:214110	PEX2	5828	HP:0001762	Talipes equinovarus
OMIM:214110	PEX2	5828	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX2	5828	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX2	5828	HP:0001840	Metatarsus adductus
OMIM:214110	PEX2	5828	HP:0011039	Abnormality of the helix
OMIM:214110	PEX2	5828	HP:0000952	Jaundice
OMIM:214110	PEX2	5828	HP:0000316	Hypertelorism
OMIM:214110	PEX2	5828	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX2	5828	HP:0001252	Muscular hypotonia
OMIM:214110	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:214110	PEX2	5828	HP:0000057	Clitoromegaly
OMIM:214110	PEX2	5828	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX1	5189	HP:0002104	Apnea
OMIM:214110	PEX1	5189	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX1	5189	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX1	5189	HP:0000239	Large fontanelles
OMIM:214110	PEX1	5189	HP:0000286	Epicanthus
OMIM:214110	PEX1	5189	HP:0012385	Camptodactyly
OMIM:214110	PEX1	5189	HP:0003819	Death in childhood
OMIM:214110	PEX1	5189	HP:0000518	Cataract
OMIM:214110	PEX1	5189	HP:0000175	Cleft palate
OMIM:214110	PEX1	5189	HP:0002967	Cubitus valgus
OMIM:214110	PEX1	5189	HP:0001250	Seizures
OMIM:214110	PEX1	5189	HP:0003355	Aminoaciduria
OMIM:214110	PEX1	5189	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX1	5189	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX1	5189	HP:0001284	Areflexia
OMIM:214110	PEX1	5189	HP:0001249	Intellectual disability
OMIM:214110	PEX1	5189	HP:0000268	Dolichocephaly
OMIM:214110	PEX1	5189	HP:0002033	Poor suck
OMIM:214110	PEX1	5189	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX1	5189	HP:0001508	Failure to thrive
OMIM:214110	PEX1	5189	HP:0000262	Turricephaly
OMIM:214110	PEX1	5189	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX1	5189	HP:0000348	High forehead
OMIM:214110	PEX1	5189	HP:0000028	Cryptorchidism
OMIM:214110	PEX1	5189	HP:0001762	Talipes equinovarus
OMIM:214110	PEX1	5189	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX1	5189	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX1	5189	HP:0001840	Metatarsus adductus
OMIM:214110	PEX1	5189	HP:0011039	Abnormality of the helix
OMIM:214110	PEX1	5189	HP:0000952	Jaundice
OMIM:214110	PEX1	5189	HP:0000316	Hypertelorism
OMIM:214110	PEX1	5189	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX1	5189	HP:0001252	Muscular hypotonia
OMIM:214110	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:214110	PEX1	5189	HP:0000057	Clitoromegaly
OMIM:214110	PEX1	5189	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX5	5830	HP:0002104	Apnea
OMIM:214110	PEX5	5830	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX5	5830	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX5	5830	HP:0000239	Large fontanelles
OMIM:214110	PEX5	5830	HP:0000286	Epicanthus
OMIM:214110	PEX5	5830	HP:0012385	Camptodactyly
OMIM:214110	PEX5	5830	HP:0003819	Death in childhood
OMIM:214110	PEX5	5830	HP:0000518	Cataract
OMIM:214110	PEX5	5830	HP:0000175	Cleft palate
OMIM:214110	PEX5	5830	HP:0002967	Cubitus valgus
OMIM:214110	PEX5	5830	HP:0001250	Seizures
OMIM:214110	PEX5	5830	HP:0003355	Aminoaciduria
OMIM:214110	PEX5	5830	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX5	5830	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX5	5830	HP:0001284	Areflexia
OMIM:214110	PEX5	5830	HP:0001249	Intellectual disability
OMIM:214110	PEX5	5830	HP:0000268	Dolichocephaly
OMIM:214110	PEX5	5830	HP:0002033	Poor suck
OMIM:214110	PEX5	5830	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX5	5830	HP:0001508	Failure to thrive
OMIM:214110	PEX5	5830	HP:0000262	Turricephaly
OMIM:214110	PEX5	5830	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX5	5830	HP:0000348	High forehead
OMIM:214110	PEX5	5830	HP:0000028	Cryptorchidism
OMIM:214110	PEX5	5830	HP:0001762	Talipes equinovarus
OMIM:214110	PEX5	5830	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX5	5830	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX5	5830	HP:0001840	Metatarsus adductus
OMIM:214110	PEX5	5830	HP:0011039	Abnormality of the helix
OMIM:214110	PEX5	5830	HP:0000952	Jaundice
OMIM:214110	PEX5	5830	HP:0000316	Hypertelorism
OMIM:214110	PEX5	5830	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX5	5830	HP:0001252	Muscular hypotonia
OMIM:214110	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:214110	PEX5	5830	HP:0000057	Clitoromegaly
OMIM:214110	PEX5	5830	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX6	5190	HP:0002104	Apnea
OMIM:214110	PEX6	5190	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX6	5190	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX6	5190	HP:0000239	Large fontanelles
OMIM:214110	PEX6	5190	HP:0000286	Epicanthus
OMIM:214110	PEX6	5190	HP:0012385	Camptodactyly
OMIM:214110	PEX6	5190	HP:0003819	Death in childhood
OMIM:214110	PEX6	5190	HP:0000518	Cataract
OMIM:214110	PEX6	5190	HP:0000175	Cleft palate
OMIM:214110	PEX6	5190	HP:0002967	Cubitus valgus
OMIM:214110	PEX6	5190	HP:0001250	Seizures
OMIM:214110	PEX6	5190	HP:0003355	Aminoaciduria
OMIM:214110	PEX6	5190	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX6	5190	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX6	5190	HP:0001284	Areflexia
OMIM:214110	PEX6	5190	HP:0001249	Intellectual disability
OMIM:214110	PEX6	5190	HP:0000268	Dolichocephaly
OMIM:214110	PEX6	5190	HP:0002033	Poor suck
OMIM:214110	PEX6	5190	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX6	5190	HP:0001508	Failure to thrive
OMIM:214110	PEX6	5190	HP:0000262	Turricephaly
OMIM:214110	PEX6	5190	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX6	5190	HP:0000348	High forehead
OMIM:214110	PEX6	5190	HP:0000028	Cryptorchidism
OMIM:214110	PEX6	5190	HP:0001762	Talipes equinovarus
OMIM:214110	PEX6	5190	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX6	5190	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX6	5190	HP:0001840	Metatarsus adductus
OMIM:214110	PEX6	5190	HP:0011039	Abnormality of the helix
OMIM:214110	PEX6	5190	HP:0000952	Jaundice
OMIM:214110	PEX6	5190	HP:0000316	Hypertelorism
OMIM:214110	PEX6	5190	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX6	5190	HP:0001252	Muscular hypotonia
OMIM:214110	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:214110	PEX6	5190	HP:0000057	Clitoromegaly
OMIM:214110	PEX6	5190	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX10	5192	HP:0002104	Apnea
OMIM:214110	PEX10	5192	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX10	5192	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX10	5192	HP:0000239	Large fontanelles
OMIM:214110	PEX10	5192	HP:0000286	Epicanthus
OMIM:214110	PEX10	5192	HP:0012385	Camptodactyly
OMIM:214110	PEX10	5192	HP:0003819	Death in childhood
OMIM:214110	PEX10	5192	HP:0000518	Cataract
OMIM:214110	PEX10	5192	HP:0000175	Cleft palate
OMIM:214110	PEX10	5192	HP:0002967	Cubitus valgus
OMIM:214110	PEX10	5192	HP:0001250	Seizures
OMIM:214110	PEX10	5192	HP:0003355	Aminoaciduria
OMIM:214110	PEX10	5192	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX10	5192	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX10	5192	HP:0001284	Areflexia
OMIM:214110	PEX10	5192	HP:0001249	Intellectual disability
OMIM:214110	PEX10	5192	HP:0000268	Dolichocephaly
OMIM:214110	PEX10	5192	HP:0002033	Poor suck
OMIM:214110	PEX10	5192	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX10	5192	HP:0001508	Failure to thrive
OMIM:214110	PEX10	5192	HP:0000262	Turricephaly
OMIM:214110	PEX10	5192	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX10	5192	HP:0000348	High forehead
OMIM:214110	PEX10	5192	HP:0000028	Cryptorchidism
OMIM:214110	PEX10	5192	HP:0001762	Talipes equinovarus
OMIM:214110	PEX10	5192	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX10	5192	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX10	5192	HP:0001840	Metatarsus adductus
OMIM:214110	PEX10	5192	HP:0011039	Abnormality of the helix
OMIM:214110	PEX10	5192	HP:0000952	Jaundice
OMIM:214110	PEX10	5192	HP:0000316	Hypertelorism
OMIM:214110	PEX10	5192	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX10	5192	HP:0001252	Muscular hypotonia
OMIM:214110	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:214110	PEX10	5192	HP:0000057	Clitoromegaly
OMIM:214110	PEX10	5192	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX12	5193	HP:0002104	Apnea
OMIM:214110	PEX12	5193	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX12	5193	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX12	5193	HP:0000239	Large fontanelles
OMIM:214110	PEX12	5193	HP:0000286	Epicanthus
OMIM:214110	PEX12	5193	HP:0012385	Camptodactyly
OMIM:214110	PEX12	5193	HP:0003819	Death in childhood
OMIM:214110	PEX12	5193	HP:0000518	Cataract
OMIM:214110	PEX12	5193	HP:0000175	Cleft palate
OMIM:214110	PEX12	5193	HP:0002967	Cubitus valgus
OMIM:214110	PEX12	5193	HP:0001250	Seizures
OMIM:214110	PEX12	5193	HP:0003355	Aminoaciduria
OMIM:214110	PEX12	5193	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX12	5193	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX12	5193	HP:0001284	Areflexia
OMIM:214110	PEX12	5193	HP:0001249	Intellectual disability
OMIM:214110	PEX12	5193	HP:0000268	Dolichocephaly
OMIM:214110	PEX12	5193	HP:0002033	Poor suck
OMIM:214110	PEX12	5193	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX12	5193	HP:0001508	Failure to thrive
OMIM:214110	PEX12	5193	HP:0000262	Turricephaly
OMIM:214110	PEX12	5193	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX12	5193	HP:0000348	High forehead
OMIM:214110	PEX12	5193	HP:0000028	Cryptorchidism
OMIM:214110	PEX12	5193	HP:0001762	Talipes equinovarus
OMIM:214110	PEX12	5193	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX12	5193	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX12	5193	HP:0001840	Metatarsus adductus
OMIM:214110	PEX12	5193	HP:0011039	Abnormality of the helix
OMIM:214110	PEX12	5193	HP:0000952	Jaundice
OMIM:214110	PEX12	5193	HP:0000316	Hypertelorism
OMIM:214110	PEX12	5193	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX12	5193	HP:0001252	Muscular hypotonia
OMIM:214110	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:214110	PEX12	5193	HP:0000057	Clitoromegaly
OMIM:214110	PEX12	5193	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX13	5194	HP:0002104	Apnea
OMIM:214110	PEX13	5194	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX13	5194	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX13	5194	HP:0000239	Large fontanelles
OMIM:214110	PEX13	5194	HP:0000286	Epicanthus
OMIM:214110	PEX13	5194	HP:0012385	Camptodactyly
OMIM:214110	PEX13	5194	HP:0003819	Death in childhood
OMIM:214110	PEX13	5194	HP:0000518	Cataract
OMIM:214110	PEX13	5194	HP:0000175	Cleft palate
OMIM:214110	PEX13	5194	HP:0002967	Cubitus valgus
OMIM:214110	PEX13	5194	HP:0001250	Seizures
OMIM:214110	PEX13	5194	HP:0003355	Aminoaciduria
OMIM:214110	PEX13	5194	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX13	5194	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX13	5194	HP:0001284	Areflexia
OMIM:214110	PEX13	5194	HP:0001249	Intellectual disability
OMIM:214110	PEX13	5194	HP:0000268	Dolichocephaly
OMIM:214110	PEX13	5194	HP:0002033	Poor suck
OMIM:214110	PEX13	5194	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX13	5194	HP:0001508	Failure to thrive
OMIM:214110	PEX13	5194	HP:0000262	Turricephaly
OMIM:214110	PEX13	5194	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX13	5194	HP:0000348	High forehead
OMIM:214110	PEX13	5194	HP:0000028	Cryptorchidism
OMIM:214110	PEX13	5194	HP:0001762	Talipes equinovarus
OMIM:214110	PEX13	5194	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX13	5194	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX13	5194	HP:0001840	Metatarsus adductus
OMIM:214110	PEX13	5194	HP:0011039	Abnormality of the helix
OMIM:214110	PEX13	5194	HP:0000952	Jaundice
OMIM:214110	PEX13	5194	HP:0000316	Hypertelorism
OMIM:214110	PEX13	5194	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX13	5194	HP:0001252	Muscular hypotonia
OMIM:214110	PEX13	5194	HP:0002240	Hepatomegaly
OMIM:214110	PEX13	5194	HP:0000057	Clitoromegaly
OMIM:214110	PEX13	5194	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX14	5195	HP:0002104	Apnea
OMIM:214110	PEX14	5195	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX14	5195	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX14	5195	HP:0000239	Large fontanelles
OMIM:214110	PEX14	5195	HP:0000286	Epicanthus
OMIM:214110	PEX14	5195	HP:0012385	Camptodactyly
OMIM:214110	PEX14	5195	HP:0003819	Death in childhood
OMIM:214110	PEX14	5195	HP:0000518	Cataract
OMIM:214110	PEX14	5195	HP:0000175	Cleft palate
OMIM:214110	PEX14	5195	HP:0002967	Cubitus valgus
OMIM:214110	PEX14	5195	HP:0001250	Seizures
OMIM:214110	PEX14	5195	HP:0003355	Aminoaciduria
OMIM:214110	PEX14	5195	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX14	5195	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX14	5195	HP:0001284	Areflexia
OMIM:214110	PEX14	5195	HP:0001249	Intellectual disability
OMIM:214110	PEX14	5195	HP:0000268	Dolichocephaly
OMIM:214110	PEX14	5195	HP:0002033	Poor suck
OMIM:214110	PEX14	5195	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX14	5195	HP:0001508	Failure to thrive
OMIM:214110	PEX14	5195	HP:0000262	Turricephaly
OMIM:214110	PEX14	5195	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX14	5195	HP:0000348	High forehead
OMIM:214110	PEX14	5195	HP:0000028	Cryptorchidism
OMIM:214110	PEX14	5195	HP:0001762	Talipes equinovarus
OMIM:214110	PEX14	5195	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX14	5195	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX14	5195	HP:0001840	Metatarsus adductus
OMIM:214110	PEX14	5195	HP:0011039	Abnormality of the helix
OMIM:214110	PEX14	5195	HP:0000952	Jaundice
OMIM:214110	PEX14	5195	HP:0000316	Hypertelorism
OMIM:214110	PEX14	5195	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX14	5195	HP:0001252	Muscular hypotonia
OMIM:214110	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:214110	PEX14	5195	HP:0000057	Clitoromegaly
OMIM:214110	PEX14	5195	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX26	55670	HP:0002104	Apnea
OMIM:214110	PEX26	55670	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX26	55670	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX26	55670	HP:0000239	Large fontanelles
OMIM:214110	PEX26	55670	HP:0000286	Epicanthus
OMIM:214110	PEX26	55670	HP:0012385	Camptodactyly
OMIM:214110	PEX26	55670	HP:0003819	Death in childhood
OMIM:214110	PEX26	55670	HP:0000518	Cataract
OMIM:214110	PEX26	55670	HP:0000175	Cleft palate
OMIM:214110	PEX26	55670	HP:0002967	Cubitus valgus
OMIM:214110	PEX26	55670	HP:0001250	Seizures
OMIM:214110	PEX26	55670	HP:0003355	Aminoaciduria
OMIM:214110	PEX26	55670	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX26	55670	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX26	55670	HP:0001284	Areflexia
OMIM:214110	PEX26	55670	HP:0001249	Intellectual disability
OMIM:214110	PEX26	55670	HP:0000268	Dolichocephaly
OMIM:214110	PEX26	55670	HP:0002033	Poor suck
OMIM:214110	PEX26	55670	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX26	55670	HP:0001508	Failure to thrive
OMIM:214110	PEX26	55670	HP:0000262	Turricephaly
OMIM:214110	PEX26	55670	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX26	55670	HP:0000348	High forehead
OMIM:214110	PEX26	55670	HP:0000028	Cryptorchidism
OMIM:214110	PEX26	55670	HP:0001762	Talipes equinovarus
OMIM:214110	PEX26	55670	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX26	55670	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX26	55670	HP:0001840	Metatarsus adductus
OMIM:214110	PEX26	55670	HP:0011039	Abnormality of the helix
OMIM:214110	PEX26	55670	HP:0000952	Jaundice
OMIM:214110	PEX26	55670	HP:0000316	Hypertelorism
OMIM:214110	PEX26	55670	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX26	55670	HP:0001252	Muscular hypotonia
OMIM:214110	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:214110	PEX26	55670	HP:0000057	Clitoromegaly
OMIM:214110	PEX26	55670	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX3	8504	HP:0002104	Apnea
OMIM:214110	PEX3	8504	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX3	8504	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX3	8504	HP:0000239	Large fontanelles
OMIM:214110	PEX3	8504	HP:0000286	Epicanthus
OMIM:214110	PEX3	8504	HP:0012385	Camptodactyly
OMIM:214110	PEX3	8504	HP:0003819	Death in childhood
OMIM:214110	PEX3	8504	HP:0000518	Cataract
OMIM:214110	PEX3	8504	HP:0000175	Cleft palate
OMIM:214110	PEX3	8504	HP:0002967	Cubitus valgus
OMIM:214110	PEX3	8504	HP:0001250	Seizures
OMIM:214110	PEX3	8504	HP:0003355	Aminoaciduria
OMIM:214110	PEX3	8504	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX3	8504	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX3	8504	HP:0001284	Areflexia
OMIM:214110	PEX3	8504	HP:0001249	Intellectual disability
OMIM:214110	PEX3	8504	HP:0000268	Dolichocephaly
OMIM:214110	PEX3	8504	HP:0002033	Poor suck
OMIM:214110	PEX3	8504	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX3	8504	HP:0001508	Failure to thrive
OMIM:214110	PEX3	8504	HP:0000262	Turricephaly
OMIM:214110	PEX3	8504	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX3	8504	HP:0000348	High forehead
OMIM:214110	PEX3	8504	HP:0000028	Cryptorchidism
OMIM:214110	PEX3	8504	HP:0001762	Talipes equinovarus
OMIM:214110	PEX3	8504	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX3	8504	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX3	8504	HP:0001840	Metatarsus adductus
OMIM:214110	PEX3	8504	HP:0011039	Abnormality of the helix
OMIM:214110	PEX3	8504	HP:0000952	Jaundice
OMIM:214110	PEX3	8504	HP:0000316	Hypertelorism
OMIM:214110	PEX3	8504	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX3	8504	HP:0001252	Muscular hypotonia
OMIM:214110	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:214110	PEX3	8504	HP:0000057	Clitoromegaly
OMIM:214110	PEX3	8504	HP:0007759	Opacification of the corneal stroma
OMIM:214110	PEX11B	8799	HP:0002104	Apnea
OMIM:214110	PEX11B	8799	HP:0000580	Pigmentary retinopathy
OMIM:214110	PEX11B	8799	HP:0000582	Upslanted palpebral fissure
OMIM:214110	PEX11B	8799	HP:0000239	Large fontanelles
OMIM:214110	PEX11B	8799	HP:0000286	Epicanthus
OMIM:214110	PEX11B	8799	HP:0012385	Camptodactyly
OMIM:214110	PEX11B	8799	HP:0003819	Death in childhood
OMIM:214110	PEX11B	8799	HP:0000518	Cataract
OMIM:214110	PEX11B	8799	HP:0000175	Cleft palate
OMIM:214110	PEX11B	8799	HP:0002967	Cubitus valgus
OMIM:214110	PEX11B	8799	HP:0001250	Seizures
OMIM:214110	PEX11B	8799	HP:0003355	Aminoaciduria
OMIM:214110	PEX11B	8799	HP:0001511	Intrauterine growth retardation
OMIM:214110	PEX11B	8799	HP:0009473	Joint contracture of the hand
OMIM:214110	PEX11B	8799	HP:0001284	Areflexia
OMIM:214110	PEX11B	8799	HP:0001249	Intellectual disability
OMIM:214110	PEX11B	8799	HP:0000268	Dolichocephaly
OMIM:214110	PEX11B	8799	HP:0002033	Poor suck
OMIM:214110	PEX11B	8799	HP:0012103	Abnormality of the mitochondrion
OMIM:214110	PEX11B	8799	HP:0001508	Failure to thrive
OMIM:214110	PEX11B	8799	HP:0000262	Turricephaly
OMIM:214110	PEX11B	8799	HP:0000778	Hypoplasia of the thymus
OMIM:214110	PEX11B	8799	HP:0000348	High forehead
OMIM:214110	PEX11B	8799	HP:0000028	Cryptorchidism
OMIM:214110	PEX11B	8799	HP:0001762	Talipes equinovarus
OMIM:214110	PEX11B	8799	HP:0000113	Polycystic kidney dysplasia
OMIM:214110	PEX11B	8799	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:214110	PEX11B	8799	HP:0001840	Metatarsus adductus
OMIM:214110	PEX11B	8799	HP:0011039	Abnormality of the helix
OMIM:214110	PEX11B	8799	HP:0000952	Jaundice
OMIM:214110	PEX11B	8799	HP:0000316	Hypertelorism
OMIM:214110	PEX11B	8799	HP:0000954	Single transverse palmar crease
OMIM:214110	PEX11B	8799	HP:0001252	Muscular hypotonia
OMIM:214110	PEX11B	8799	HP:0002240	Hepatomegaly
OMIM:214110	PEX11B	8799	HP:0000057	Clitoromegaly
OMIM:214110	PEX11B	8799	HP:0007759	Opacification of the corneal stroma
OMIM:208050	SLC2A10	81031	HP:0002021	Pyloric stenosis
OMIM:208050	SLC2A10	81031	HP:0001252	Muscular hypotonia
OMIM:208050	SLC2A10	81031	HP:0000973	Cutis laxa
OMIM:208050	SLC2A10	81031	HP:0001659	Aortic regurgitation
OMIM:208050	SLC2A10	81031	HP:0001027	Soft, doughy skin
OMIM:208050	SLC2A10	81031	HP:0001635	Congestive heart failure
OMIM:208050	SLC2A10	81031	HP:0000963	Thin skin
OMIM:208050	SLC2A10	81031	HP:0001388	Joint laxity
OMIM:208050	SLC2A10	81031	HP:0003196	Short nose
OMIM:208050	SLC2A10	81031	HP:0000581	Blepharophimosis
OMIM:208050	SLC2A10	81031	HP:0001249	Intellectual disability
OMIM:208050	SLC2A10	81031	HP:0002093	Respiratory insufficiency
OMIM:208050	SLC2A10	81031	HP:0001166	Arachnodactyly
OMIM:208050	SLC2A10	81031	HP:0002242	Abnormality of the intestine
OMIM:208050	SLC2A10	81031	HP:0100585	Telangiectasia of the skin
OMIM:208050	SLC2A10	81031	HP:0000276	Long face
OMIM:208050	SLC2A10	81031	HP:0004415	Pulmonary artery stenosis
OMIM:208050	SLC2A10	81031	HP:0001537	Umbilical hernia
OMIM:208050	SLC2A10	81031	HP:0001645	Sudden cardiac death
OMIM:208050	SLC2A10	81031	HP:0000218	High palate
OMIM:208050	SLC2A10	81031	HP:0000767	Pectus excavatum
OMIM:208050	SLC2A10	81031	HP:0000007	Autosomal recessive inheritance
OMIM:208050	SLC2A10	81031	HP:0000400	Macrotia
OMIM:208050	SLC2A10	81031	HP:0001714	Ventricular hypertrophy
OMIM:208050	SLC2A10	81031	HP:0000444	Convex nasal ridge
OMIM:208050	SLC2A10	81031	HP:0000347	Micrognathia
OMIM:208050	SLC2A10	81031	HP:0000486	Strabismus
OMIM:208050	SLC2A10	81031	HP:0000822	Hypertension
OMIM:208050	SLC2A10	81031	HP:0001363	Craniosynostosis
OMIM:208050	SLC2A10	81031	HP:0002650	Scoliosis
OMIM:208050	SLC2A10	81031	HP:0001977	Abnormal thrombosis
OMIM:208050	SLC2A10	81031	HP:0001650	Aortic valve stenosis
OMIM:208050	SLC2A10	81031	HP:0000256	Macrocephaly
OMIM:208050	SLC2A10	81031	HP:0000343	Long philtrum
OMIM:208050	SLC2A10	81031	HP:0001639	Hypertrophic cardiomyopathy
OMIM:208050	SLC2A10	81031	HP:0000978	Bruising susceptibility
OMIM:208050	SLC2A10	81031	HP:0000316	Hypertelorism
OMIM:208050	SLC2A10	81031	HP:0003272	Abnormality of the hip bone
OMIM:208050	SLC2A10	81031	HP:0000974	Hyperextensible skin
OMIM:208050	SLC2A10	81031	HP:0001677	Coronary artery disease
OMIM:208050	SLC2A10	81031	HP:0000768	Pectus carinatum
OMIM:208050	SLC2A10	81031	HP:0000202	Oral cleft
OMIM:208050	SLC2A10	81031	HP:0004299	Hernia of the abdominal wall
OMIM:208050	SLC2A10	81031	HP:0100689	Decreased corneal thickness
OMIM:208050	SLC2A10	81031	HP:0000563	Keratoconus
OMIM:208050	SLC2A10	81031	HP:0001371	Flexion contracture
OMIM:208050	SLC2A10	81031	HP:0000545	Myopia
OMIM:208050	SLC2A10	81031	HP:0007495	Prematurely aged appearance
OMIM:208050	SLC2A10	81031	HP:0004955	Generalized arterial tortuosity
OMIM:208050	SLC2A10	81031	HP:0003577	Congenital onset
OMIM:208050	SLC2A10	81031	HP:0002617	Aneurysm
OMIM:208050	SLC2A10	81031	HP:0000776	Congenital diaphragmatic hernia
OMIM:208050	SLC2A10	81031	HP:0004209	Clinodactyly of the 5th finger
OMIM:208050	SLC2A10	81031	HP:0005111	Dilatation of the ascending aorta
OMIM:208050	SLC2A10	81031	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:208050	SLC2A10	81031	HP:0100543	Cognitive impairment
OMIM:208050	SLC2A10	81031	HP:0000023	Inguinal hernia
OMIM:208050	SLC2A10	81031	HP:0000494	Downslanted palpebral fissures
OMIM:208050	SLC2A10	81031	HP:0005344	Abnormality of the carotid arteries
OMIM:208050	SLC2A10	81031	HP:0001382	Joint hypermobility
OMIM:208050	SLC2A10	81031	HP:0001838	Rocker bottom foot
OMIM:609529	TNFRSF13B	23495	HP:0002960	Autoimmunity
OMIM:614779	CFAP53	220136	HP:0003828	Variable expressivity
OMIM:614779	CFAP53	220136	HP:0001669	Transposition of the great arteries
OMIM:614779	CFAP53	220136	HP:0000007	Autosomal recessive inheritance
OMIM:614779	CFAP53	220136	HP:0003363	Abdominal situs inversus
OMIM:612292	KCNK9	51305	HP:0002553	Highly arched eyebrow
OMIM:612292	KCNK9	51305	HP:0000322	Short philtrum
OMIM:612292	KCNK9	51305	HP:0000960	Sacral dimple
OMIM:612292	KCNK9	51305	HP:0000574	Thick eyebrow
OMIM:612292	KCNK9	51305	HP:0011229	Broad eyebrow
OMIM:612292	KCNK9	51305	HP:0000341	Narrow forehead
OMIM:612292	KCNK9	51305	HP:0000218	High palate
OMIM:612292	KCNK9	51305	HP:0001999	Abnormal facial shape
OMIM:612292	KCNK9	51305	HP:0000006	Autosomal dominant inheritance
OMIM:612292	KCNK9	51305	HP:0001249	Intellectual disability
OMIM:612292	KCNK9	51305	HP:0002015	Dysphagia
OMIM:612292	KCNK9	51305	HP:0001252	Muscular hypotonia
OMIM:612292	KCNK9	51305	HP:0008872	Feeding difficulties in infancy
OMIM:213600	PDGFB	5155	HP:0001288	Gait disturbance
OMIM:213600	PDGFB	5155	HP:0002072	Chorea
OMIM:213600	PDGFB	5155	HP:0001268	Mental deterioration
OMIM:213600	PDGFB	5155	HP:0002305	Athetosis
OMIM:213600	PDGFB	5155	HP:0003581	Adult onset
OMIM:213600	PDGFB	5155	HP:0002075	Dysdiadochokinesis
OMIM:213600	PDGFB	5155	HP:0001337	Tremor
OMIM:213600	PDGFB	5155	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:213600	PDGFB	5155	HP:0000298	Mask-like facies
OMIM:213600	PDGFB	5155	HP:0002504	Calcification of the small brain vessels
OMIM:213600	PDGFB	5155	HP:0002067	Bradykinesia
OMIM:213600	PDGFB	5155	HP:0002063	Rigidity
OMIM:213600	PDGFB	5155	HP:0000709	Psychosis
OMIM:213600	PDGFB	5155	HP:0001347	Hyperreflexia
OMIM:213600	PDGFB	5155	HP:0001260	Dysarthria
OMIM:213600	PDGFB	5155	HP:0002172	Postural instability
OMIM:213600	PDGFB	5155	HP:0001332	Dystonia
OMIM:213600	PDGFB	5155	HP:0000006	Autosomal dominant inheritance
OMIM:213600	PDGFB	5155	HP:0003676	Progressive
OMIM:213600	PDGFB	5155	HP:0000716	Depression
OMIM:213600	PDGFB	5155	HP:0002354	Memory impairment
OMIM:213600	PDGFB	5155	HP:0007256	Abnormal pyramidal signs
OMIM:213600	PDGFB	5155	HP:0002406	Limb dysmetria
OMIM:213600	PDGFB	5155	HP:0002135	Basal ganglia calcification
OMIM:213600	PDGFB	5155	HP:0001300	Parkinsonism
OMIM:213600	PDGFB	5155	HP:0000020	Urinary incontinence
OMIM:213600	PDGFRB	5159	HP:0001288	Gait disturbance
OMIM:213600	PDGFRB	5159	HP:0002072	Chorea
OMIM:213600	PDGFRB	5159	HP:0001268	Mental deterioration
OMIM:213600	PDGFRB	5159	HP:0002305	Athetosis
OMIM:213600	PDGFRB	5159	HP:0003581	Adult onset
OMIM:213600	PDGFRB	5159	HP:0002075	Dysdiadochokinesis
OMIM:213600	PDGFRB	5159	HP:0001337	Tremor
OMIM:213600	PDGFRB	5159	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:213600	PDGFRB	5159	HP:0000298	Mask-like facies
OMIM:213600	PDGFRB	5159	HP:0002504	Calcification of the small brain vessels
OMIM:213600	PDGFRB	5159	HP:0002067	Bradykinesia
OMIM:213600	PDGFRB	5159	HP:0002063	Rigidity
OMIM:213600	PDGFRB	5159	HP:0000709	Psychosis
OMIM:213600	PDGFRB	5159	HP:0001347	Hyperreflexia
OMIM:213600	PDGFRB	5159	HP:0001260	Dysarthria
OMIM:213600	PDGFRB	5159	HP:0002172	Postural instability
OMIM:213600	PDGFRB	5159	HP:0001332	Dystonia
OMIM:213600	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:213600	PDGFRB	5159	HP:0003676	Progressive
OMIM:213600	PDGFRB	5159	HP:0000716	Depression
OMIM:213600	PDGFRB	5159	HP:0002354	Memory impairment
OMIM:213600	PDGFRB	5159	HP:0007256	Abnormal pyramidal signs
OMIM:213600	PDGFRB	5159	HP:0002406	Limb dysmetria
OMIM:213600	PDGFRB	5159	HP:0002135	Basal ganglia calcification
OMIM:213600	PDGFRB	5159	HP:0001300	Parkinsonism
OMIM:213600	PDGFRB	5159	HP:0000020	Urinary incontinence
OMIM:213600	XPR1	9213	HP:0001288	Gait disturbance
OMIM:213600	XPR1	9213	HP:0002072	Chorea
OMIM:213600	XPR1	9213	HP:0001268	Mental deterioration
OMIM:213600	XPR1	9213	HP:0002305	Athetosis
OMIM:213600	XPR1	9213	HP:0003581	Adult onset
OMIM:213600	XPR1	9213	HP:0002075	Dysdiadochokinesis
OMIM:213600	XPR1	9213	HP:0001337	Tremor
OMIM:213600	XPR1	9213	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:213600	XPR1	9213	HP:0000298	Mask-like facies
OMIM:213600	XPR1	9213	HP:0002504	Calcification of the small brain vessels
OMIM:213600	XPR1	9213	HP:0002067	Bradykinesia
OMIM:213600	XPR1	9213	HP:0002063	Rigidity
OMIM:213600	XPR1	9213	HP:0000709	Psychosis
OMIM:213600	XPR1	9213	HP:0001347	Hyperreflexia
OMIM:213600	XPR1	9213	HP:0001260	Dysarthria
OMIM:213600	XPR1	9213	HP:0002172	Postural instability
OMIM:213600	XPR1	9213	HP:0001332	Dystonia
OMIM:213600	XPR1	9213	HP:0000006	Autosomal dominant inheritance
OMIM:213600	XPR1	9213	HP:0003676	Progressive
OMIM:213600	XPR1	9213	HP:0000716	Depression
OMIM:213600	XPR1	9213	HP:0002354	Memory impairment
OMIM:213600	XPR1	9213	HP:0007256	Abnormal pyramidal signs
OMIM:213600	XPR1	9213	HP:0002406	Limb dysmetria
OMIM:213600	XPR1	9213	HP:0002135	Basal ganglia calcification
OMIM:213600	XPR1	9213	HP:0001300	Parkinsonism
OMIM:213600	XPR1	9213	HP:0000020	Urinary incontinence
OMIM:213600	SLC20A2	6575	HP:0001288	Gait disturbance
OMIM:213600	SLC20A2	6575	HP:0002072	Chorea
OMIM:213600	SLC20A2	6575	HP:0001268	Mental deterioration
OMIM:213600	SLC20A2	6575	HP:0002305	Athetosis
OMIM:213600	SLC20A2	6575	HP:0003581	Adult onset
OMIM:213600	SLC20A2	6575	HP:0002075	Dysdiadochokinesis
OMIM:213600	SLC20A2	6575	HP:0001337	Tremor
OMIM:213600	SLC20A2	6575	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:213600	SLC20A2	6575	HP:0000298	Mask-like facies
OMIM:213600	SLC20A2	6575	HP:0002504	Calcification of the small brain vessels
OMIM:213600	SLC20A2	6575	HP:0002067	Bradykinesia
OMIM:213600	SLC20A2	6575	HP:0002063	Rigidity
OMIM:213600	SLC20A2	6575	HP:0000709	Psychosis
OMIM:213600	SLC20A2	6575	HP:0001347	Hyperreflexia
OMIM:213600	SLC20A2	6575	HP:0001260	Dysarthria
OMIM:213600	SLC20A2	6575	HP:0002172	Postural instability
OMIM:213600	SLC20A2	6575	HP:0001332	Dystonia
OMIM:213600	SLC20A2	6575	HP:0000006	Autosomal dominant inheritance
OMIM:213600	SLC20A2	6575	HP:0003676	Progressive
OMIM:213600	SLC20A2	6575	HP:0000716	Depression
OMIM:213600	SLC20A2	6575	HP:0002354	Memory impairment
OMIM:213600	SLC20A2	6575	HP:0007256	Abnormal pyramidal signs
OMIM:213600	SLC20A2	6575	HP:0002406	Limb dysmetria
OMIM:213600	SLC20A2	6575	HP:0002135	Basal ganglia calcification
OMIM:213600	SLC20A2	6575	HP:0001300	Parkinsonism
OMIM:213600	SLC20A2	6575	HP:0000020	Urinary incontinence
OMIM:218400	GJA1	2697	HP:0000316	Hypertelorism
OMIM:218400	GJA1	2697	HP:0000696	Delayed eruption of permanent teeth
OMIM:218400	GJA1	2697	HP:0100255	Metaphyseal dysplasia
OMIM:218400	GJA1	2697	HP:0000431	Wide nasal bridge
OMIM:218400	GJA1	2697	HP:0001739	Abnormality of the nasopharynx
OMIM:218400	GJA1	2697	HP:0000256	Macrocephaly
OMIM:218400	GJA1	2697	HP:0000280	Coarse facial features
OMIM:218400	GJA1	2697	HP:0000648	Optic atrophy
OMIM:218400	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:218400	GJA1	2697	HP:0010628	Facial palsy
OMIM:218400	GJA1	2697	HP:0003015	Flared metaphysis
OMIM:218400	GJA1	2697	HP:0000765	Abnormality of the thorax
OMIM:218400	GJA1	2697	HP:0000506	Telecanthus
OMIM:218400	GJA1	2697	HP:0000303	Mandibular prognathia
OMIM:218400	ANKH	56172	HP:0000316	Hypertelorism
OMIM:218400	ANKH	56172	HP:0000696	Delayed eruption of permanent teeth
OMIM:218400	ANKH	56172	HP:0100255	Metaphyseal dysplasia
OMIM:218400	ANKH	56172	HP:0000431	Wide nasal bridge
OMIM:218400	ANKH	56172	HP:0001739	Abnormality of the nasopharynx
OMIM:218400	ANKH	56172	HP:0000256	Macrocephaly
OMIM:218400	ANKH	56172	HP:0000280	Coarse facial features
OMIM:218400	ANKH	56172	HP:0000648	Optic atrophy
OMIM:218400	ANKH	56172	HP:0000007	Autosomal recessive inheritance
OMIM:218400	ANKH	56172	HP:0010628	Facial palsy
OMIM:218400	ANKH	56172	HP:0003015	Flared metaphysis
OMIM:218400	ANKH	56172	HP:0000765	Abnormality of the thorax
OMIM:218400	ANKH	56172	HP:0000506	Telecanthus
OMIM:218400	ANKH	56172	HP:0000303	Mandibular prognathia
OMIM:610505	TSFM	10102	HP:0003812	Phenotypic variability
OMIM:610505	TSFM	10102	HP:0001251	Ataxia
OMIM:610505	TSFM	10102	HP:0003819	Death in childhood
OMIM:610505	TSFM	10102	HP:0002878	Respiratory failure
OMIM:610505	TSFM	10102	HP:0001337	Tremor
OMIM:610505	TSFM	10102	HP:0001558	Decreased fetal movement
OMIM:610505	TSFM	10102	HP:0001138	Optic neuropathy
OMIM:610505	TSFM	10102	HP:0000648	Optic atrophy
OMIM:610505	TSFM	10102	HP:0000007	Autosomal recessive inheritance
OMIM:610505	TSFM	10102	HP:0000505	Visual impairment
OMIM:610505	TSFM	10102	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610505	TSFM	10102	HP:0008872	Feeding difficulties in infancy
OMIM:610505	TSFM	10102	HP:0002240	Hepatomegaly
OMIM:610505	TSFM	10102	HP:0002151	Increased serum lactate
OMIM:610505	TSFM	10102	HP:0001643	Patent ductus arteriosus
OMIM:610505	TSFM	10102	HP:0100543	Cognitive impairment
OMIM:610505	TSFM	10102	HP:0001250	Seizures
OMIM:610505	TSFM	10102	HP:0001324	Muscle weakness
OMIM:610505	TSFM	10102	HP:0001298	Encephalopathy
OMIM:610505	TSFM	10102	HP:0001332	Dystonia
OMIM:610505	TSFM	10102	HP:0003201	Rhabdomyolysis
OMIM:610505	TSFM	10102	HP:0001319	Neonatal hypotonia
OMIM:610505	TSFM	10102	HP:0001511	Intrauterine growth retardation
OMIM:610505	TSFM	10102	HP:0001655	Patent foramen ovale
OMIM:610505	TSFM	10102	HP:0003128	Lactic acidosis
OMIM:610505	TSFM	10102	HP:0001644	Dilated cardiomyopathy
OMIM:610505	TSFM	10102	HP:0002119	Ventriculomegaly
OMIM:610505	TSFM	10102	HP:0001263	Global developmental delay
OMIM:613870	ECE1	1889	HP:0000414	Bulbous nose
OMIM:613870	ECE1	1889	HP:0002251	Aganglionic megacolon
OMIM:613870	ECE1	1889	HP:0000054	Micropenis
OMIM:613870	ECE1	1889	HP:0001629	Ventricular septal defect
OMIM:613870	ECE1	1889	HP:0001182	Tapered finger
OMIM:613870	ECE1	1889	HP:0003196	Short nose
OMIM:613870	ECE1	1889	HP:0000378	Cupped ear
OMIM:613870	ECE1	1889	HP:0001631	Atria septal defect
OMIM:613870	ECE1	1889	HP:0000006	Autosomal dominant inheritance
OMIM:613870	ECE1	1889	HP:0001643	Patent ductus arteriosus
OMIM:613870	ECE1	1889	HP:0000358	Posteriorly rotated ears
OMIM:613985	HBB	3043	HP:0001873	Thrombocytopenia
OMIM:613985	HBB	3043	HP:0008872	Feeding difficulties in infancy
OMIM:613985	HBB	3043	HP:0011031	Abnormality of iron homeostasis
OMIM:613985	HBB	3043	HP:0001744	Splenomegaly
OMIM:613985	HBB	3043	HP:0000518	Cataract
OMIM:613985	HBB	3043	HP:0000819	Diabetes mellitus
OMIM:613985	HBB	3043	HP:0000980	Pallor
OMIM:613985	HBB	3043	HP:0000505	Visual impairment
OMIM:613985	HBB	3043	HP:0002093	Respiratory insufficiency
OMIM:613985	HBB	3043	HP:0002652	Skeletal dysplasia
OMIM:613985	HBB	3043	HP:0000365	Hearing impairment
OMIM:613985	HBB	3043	HP:0004418	Thrombophlebitis
OMIM:613985	HBB	3043	HP:0005528	Bone marrow hypocellularity
OMIM:613985	HBB	3043	HP:0002240	Hepatomegaly
OMIM:613985	HBB	3043	HP:0008207	Primary adrenal insufficiency
OMIM:613985	HBB	3043	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613985	HBB	3043	HP:0004349	Reduced bone mineral density
OMIM:613985	HBB	3043	HP:0000582	Upslanted palpebral fissure
OMIM:613985	HBB	3043	HP:0002829	Arthralgia
OMIM:613985	HBB	3043	HP:0001080	Biliary tract abnormality
OMIM:613985	HBB	3043	HP:0000765	Abnormality of the thorax
OMIM:613985	HBB	3043	HP:0001394	Cirrhosis
OMIM:613985	HBB	3043	HP:0002910	Elevated hepatic transaminases
OMIM:613985	HBB	3043	HP:0001645	Sudden cardiac death
OMIM:613985	HBB	3043	HP:0000708	Behavioral abnormality
OMIM:613985	HBB	3043	HP:0005280	Depressed nasal bridge
OMIM:613985	HBB	3043	HP:0200042	Skin ulcer
OMIM:613985	HBB	3043	HP:0000829	Hypoparathyroidism
OMIM:613985	HBB	3043	HP:0002857	Genu valgum
OMIM:613985	HBB	3043	HP:0000078	Abnormality of the genital system
OMIM:613985	HBB	3043	HP:0000662	Nyctalopia
OMIM:613985	HBB	3043	HP:0000821	Hypothyroidism
OMIM:613985	HBB	3043	HP:0003401	Paresthesia
OMIM:613985	HBB	3043	HP:0010620	Malar prominence
OMIM:613985	HBB	3043	HP:0002024	Malabsorption
OMIM:613985	HBB	3043	HP:0000551	Abnormality of color vision
OMIM:613985	HBB	3043	HP:0000830	Anterior hypopituitarism
OMIM:613985	HBB	3043	HP:0004370	Abnormality of temperature regulation
OMIM:613985	HBB	3043	HP:0000164	Abnormality of the teeth
OMIM:613985	HBB	3043	HP:0001324	Muscle weakness
OMIM:613985	LCRB	387281	HP:0001873	Thrombocytopenia
OMIM:613985	LCRB	387281	HP:0008872	Feeding difficulties in infancy
OMIM:613985	LCRB	387281	HP:0011031	Abnormality of iron homeostasis
OMIM:613985	LCRB	387281	HP:0001744	Splenomegaly
OMIM:613985	LCRB	387281	HP:0000518	Cataract
OMIM:613985	LCRB	387281	HP:0000819	Diabetes mellitus
OMIM:613985	LCRB	387281	HP:0000980	Pallor
OMIM:613985	LCRB	387281	HP:0000505	Visual impairment
OMIM:613985	LCRB	387281	HP:0002093	Respiratory insufficiency
OMIM:613985	LCRB	387281	HP:0002652	Skeletal dysplasia
OMIM:613985	LCRB	387281	HP:0000365	Hearing impairment
OMIM:613985	LCRB	387281	HP:0004418	Thrombophlebitis
OMIM:613985	LCRB	387281	HP:0005528	Bone marrow hypocellularity
OMIM:613985	LCRB	387281	HP:0002240	Hepatomegaly
OMIM:613985	LCRB	387281	HP:0008207	Primary adrenal insufficiency
OMIM:613985	LCRB	387281	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613985	LCRB	387281	HP:0004349	Reduced bone mineral density
OMIM:613985	LCRB	387281	HP:0000582	Upslanted palpebral fissure
OMIM:613985	LCRB	387281	HP:0002829	Arthralgia
OMIM:613985	LCRB	387281	HP:0001080	Biliary tract abnormality
OMIM:613985	LCRB	387281	HP:0000765	Abnormality of the thorax
OMIM:613985	LCRB	387281	HP:0001394	Cirrhosis
OMIM:613985	LCRB	387281	HP:0002910	Elevated hepatic transaminases
OMIM:613985	LCRB	387281	HP:0001645	Sudden cardiac death
OMIM:613985	LCRB	387281	HP:0000708	Behavioral abnormality
OMIM:613985	LCRB	387281	HP:0005280	Depressed nasal bridge
OMIM:613985	LCRB	387281	HP:0200042	Skin ulcer
OMIM:613985	LCRB	387281	HP:0000829	Hypoparathyroidism
OMIM:613985	LCRB	387281	HP:0002857	Genu valgum
OMIM:613985	LCRB	387281	HP:0000078	Abnormality of the genital system
OMIM:613985	LCRB	387281	HP:0000662	Nyctalopia
OMIM:613985	LCRB	387281	HP:0000821	Hypothyroidism
OMIM:613985	LCRB	387281	HP:0003401	Paresthesia
OMIM:613985	LCRB	387281	HP:0010620	Malar prominence
OMIM:613985	LCRB	387281	HP:0002024	Malabsorption
OMIM:613985	LCRB	387281	HP:0000551	Abnormality of color vision
OMIM:613985	LCRB	387281	HP:0000830	Anterior hypopituitarism
OMIM:613985	LCRB	387281	HP:0004370	Abnormality of temperature regulation
OMIM:613985	LCRB	387281	HP:0000164	Abnormality of the teeth
OMIM:613985	LCRB	387281	HP:0001324	Muscle weakness
OMIM:245600	B3GAT3	26229	HP:0002827	Hip dislocation
OMIM:245600	B3GAT3	26229	HP:0004322	Short stature
OMIM:245600	B3GAT3	26229	HP:0000470	Short neck
OMIM:245600	B3GAT3	26229	HP:0000974	Hyperextensible skin
OMIM:245600	B3GAT3	26229	HP:0000540	Hypermetropia
OMIM:245600	B3GAT3	26229	HP:0001270	Motor delay
OMIM:245600	B3GAT3	26229	HP:0001640	Cardiomegaly
OMIM:245600	B3GAT3	26229	HP:0001840	Metatarsus adductus
OMIM:245600	B3GAT3	26229	HP:0002987	Elbow flexion contracture
OMIM:245600	B3GAT3	26229	HP:0002007	Frontal bossing
OMIM:245600	B3GAT3	26229	HP:0000316	Hypertelorism
OMIM:245600	B3GAT3	26229	HP:0000494	Downslanted palpebral fissures
OMIM:245600	B3GAT3	26229	HP:0001634	Mitral valve prolapse
OMIM:245600	B3GAT3	26229	HP:0002650	Scoliosis
OMIM:245600	B3GAT3	26229	HP:0000774	Narrow chest
OMIM:245600	B3GAT3	26229	HP:0002857	Genu valgum
OMIM:245600	B3GAT3	26229	HP:0012368	Flat face
OMIM:245600	B3GAT3	26229	HP:0001087	Congenital glaucoma
OMIM:245600	B3GAT3	26229	HP:0000768	Pectus carinatum
OMIM:245600	B3GAT3	26229	HP:0000248	Brachycephaly
OMIM:245600	B3GAT3	26229	HP:0000238	Hydrocephalus
OMIM:245600	B3GAT3	26229	HP:0005280	Depressed nasal bridge
OMIM:245600	B3GAT3	26229	HP:0008551	Microtia
OMIM:245600	B3GAT3	26229	HP:0001763	Pes planus
OMIM:245600	B3GAT3	26229	HP:0001852	Sandal gap
OMIM:245600	B3GAT3	26229	HP:0001762	Talipes equinovarus
OMIM:245600	B3GAT3	26229	HP:0000023	Inguinal hernia
OMIM:245600	B3GAT3	26229	HP:0000776	Congenital diaphragmatic hernia
OMIM:245600	B3GAT3	26229	HP:0002162	Low posterior hairline
OMIM:245600	B3GAT3	26229	HP:0000175	Cleft palate
OMIM:245600	B3GAT3	26229	HP:0002750	Delayed skeletal maturation
OMIM:245600	B3GAT3	26229	HP:0005616	Accelerated skeletal maturation
OMIM:245600	B3GAT3	26229	HP:0000565	Esotropia
OMIM:245600	B3GAT3	26229	HP:0011220	Prominent forehead
OMIM:245600	B3GAT3	26229	HP:0000160	Narrow mouth
OMIM:245600	B3GAT3	26229	HP:0001090	Large eyes
OMIM:245600	B3GAT3	26229	HP:0001388	Joint laxity
OMIM:245600	B3GAT3	26229	HP:0009880	Broad distal phalanges of all fingers
OMIM:245600	B3GAT3	26229	HP:0000308	Microretrognathia
OMIM:245600	B3GAT3	26229	HP:0000369	Low-set ears
OMIM:245600	B3GAT3	26229	HP:0001712	Left ventricular hypertrophy
OMIM:245600	B3GAT3	26229	HP:0001655	Patent foramen ovale
OMIM:245600	B3GAT3	26229	HP:0000574	Thick eyebrow
OMIM:245600	B3GAT3	26229	HP:0002974	Radioulnar synostosis
OMIM:245600	B3GAT3	26229	HP:0000973	Cutis laxa
OMIM:245600	B3GAT3	26229	HP:0000646	Amblyopia
OMIM:245600	B3GAT3	26229	HP:0000592	Blue sclerae
OMIM:245600	B3GAT3	26229	HP:0000465	Webbed neck
OMIM:245600	B3GAT3	26229	HP:0001647	Bicuspid aortic valve
OMIM:245600	B3GAT3	26229	HP:0000938	Osteopenia
OMIM:245600	B3GAT3	26229	HP:0001290	Generalized hypotonia
OMIM:245600	B3GAT3	26229	HP:0000691	Microdontia
OMIM:245600	B3GAT3	26229	HP:0000007	Autosomal recessive inheritance
OMIM:245600	B3GAT3	26229	HP:0000274	Small face
OMIM:248300	SLURP1	57152	HP:0000998	Hypertrichosis
OMIM:248300	SLURP1	57152	HP:0008064	Ichthyosis
OMIM:248300	SLURP1	57152	HP:0000174	Abnormality of the palate
OMIM:248300	SLURP1	57152	HP:0001156	Brachydactyly syndrome
OMIM:248300	SLURP1	57152	HP:0200042	Skin ulcer
OMIM:248300	SLURP1	57152	HP:0000982	Palmoplantar keratoderma
OMIM:248300	SLURP1	57152	HP:0003593	Infantile onset
OMIM:248300	SLURP1	57152	HP:0006101	Finger syndactyly
OMIM:248300	SLURP1	57152	HP:0002797	Osteolysis
OMIM:248300	SLURP1	57152	HP:0000975	Hyperhidrosis
OMIM:248300	SLURP1	57152	HP:0000153	Abnormality of the mouth
OMIM:248300	SLURP1	57152	HP:0000007	Autosomal recessive inheritance
OMIM:607326	DYM	54808	HP:0009803	Short phalanx of finger
OMIM:607326	DYM	54808	HP:0000926	Platyspondyly
OMIM:607326	DYM	54808	HP:0002808	Kyphosis
OMIM:607326	DYM	54808	HP:0003025	Metaphyseal irregularity
OMIM:607326	DYM	54808	HP:0000252	Microcephaly
OMIM:607326	DYM	54808	HP:0000007	Autosomal recessive inheritance
OMIM:607326	DYM	54808	HP:0002692	Hypoplastic facial bones
OMIM:607326	DYM	54808	HP:0001552	Barrel-shaped chest
OMIM:607326	DYM	54808	HP:0002515	Waddling gait
OMIM:607326	DYM	54808	HP:0002650	Scoliosis
OMIM:607326	DYM	54808	HP:0010049	Short metacarpal
OMIM:607326	DYM	54808	HP:0000882	Hypoplastic scapulae
OMIM:607326	DYM	54808	HP:0003311	Hypoplasia of the odontoid process
OMIM:607326	DYM	54808	HP:0000268	Dolichocephaly
OMIM:607326	DYM	54808	HP:0002857	Genu valgum
OMIM:607326	DYM	54808	HP:0003521	Disproportionate short-trunk short stature
OMIM:607326	DYM	54808	HP:0002970	Genu varum
OMIM:607326	RAB33B	83452	HP:0009803	Short phalanx of finger
OMIM:607326	RAB33B	83452	HP:0000926	Platyspondyly
OMIM:607326	RAB33B	83452	HP:0002808	Kyphosis
OMIM:607326	RAB33B	83452	HP:0003025	Metaphyseal irregularity
OMIM:607326	RAB33B	83452	HP:0000252	Microcephaly
OMIM:607326	RAB33B	83452	HP:0000007	Autosomal recessive inheritance
OMIM:607326	RAB33B	83452	HP:0002692	Hypoplastic facial bones
OMIM:607326	RAB33B	83452	HP:0001552	Barrel-shaped chest
OMIM:607326	RAB33B	83452	HP:0002515	Waddling gait
OMIM:607326	RAB33B	83452	HP:0002650	Scoliosis
OMIM:607326	RAB33B	83452	HP:0010049	Short metacarpal
OMIM:607326	RAB33B	83452	HP:0000882	Hypoplastic scapulae
OMIM:607326	RAB33B	83452	HP:0003311	Hypoplasia of the odontoid process
OMIM:607326	RAB33B	83452	HP:0000268	Dolichocephaly
OMIM:607326	RAB33B	83452	HP:0002857	Genu valgum
OMIM:607326	RAB33B	83452	HP:0003521	Disproportionate short-trunk short stature
OMIM:607326	RAB33B	83452	HP:0002970	Genu varum
OMIM:609136	SOX10	6663	HP:0002019	Constipation
OMIM:609136	SOX10	6663	HP:0003693	Distal amyotrophy
OMIM:609136	SOX10	6663	HP:0007182	Peripheral hypomyelination
OMIM:609136	SOX10	6663	HP:0002510	Spastic tetraplegia
OMIM:609136	SOX10	6663	HP:0000407	Sensorineural hearing impairment
OMIM:609136	SOX10	6663	HP:0000078	Abnormality of the genital system
OMIM:609136	SOX10	6663	HP:0009830	Peripheral neuropathy
OMIM:609136	SOX10	6663	HP:0011675	Arrhythmia
OMIM:609136	SOX10	6663	HP:0000966	Hypohidrosis
OMIM:609136	SOX10	6663	HP:0001100	Heterochromia iridis
OMIM:609136	SOX10	6663	HP:0002271	Autonomic dysregulation
OMIM:609136	SOX10	6663	HP:0002313	Spastic paraparesis
OMIM:609136	SOX10	6663	HP:0005599	Hypopigmentation of hair
OMIM:609136	SOX10	6663	HP:0002226	White eyebrow
OMIM:609136	SOX10	6663	HP:0001263	Global developmental delay
OMIM:609136	SOX10	6663	HP:0001252	Muscular hypotonia
OMIM:609136	SOX10	6663	HP:0000506	Telecanthus
OMIM:609136	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:609136	SOX10	6663	HP:0000534	Abnormality of the eyebrow
OMIM:609136	SOX10	6663	HP:0005214	Intestinal obstruction
OMIM:609136	SOX10	6663	HP:0001319	Neonatal hypotonia
OMIM:609136	SOX10	6663	HP:0000426	Prominent nasal bridge
OMIM:609136	SOX10	6663	HP:0002936	Distal sensory impairment
OMIM:609136	SOX10	6663	HP:0100543	Cognitive impairment
OMIM:609136	SOX10	6663	HP:0001251	Ataxia
OMIM:609136	SOX10	6663	HP:0004463	Absent brainstem auditory responses
OMIM:609136	SOX10	6663	HP:0000762	Decreased nerve conduction velocity
OMIM:609136	SOX10	6663	HP:0001053	Hypopigmented skin patches
OMIM:609136	SOX10	6663	HP:0002227	White eyelashes
OMIM:609136	SOX10	6663	HP:0002311	Incoordination
OMIM:609136	SOX10	6663	HP:0002240	Hepatomegaly
OMIM:609136	SOX10	6663	HP:0001276	Hypertonia
OMIM:609136	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:609136	SOX10	6663	HP:0001744	Splenomegaly
OMIM:609136	SOX10	6663	HP:0001761	Pes cavus
OMIM:609136	SOX10	6663	HP:0000430	Underdeveloped nasal alae
OMIM:609136	SOX10	6663	HP:0007256	Abnormal pyramidal signs
OMIM:609136	SOX10	6663	HP:0001284	Areflexia
OMIM:609136	SOX10	6663	HP:0002216	Premature graying of hair
OMIM:609136	SOX10	6663	HP:0000639	Nystagmus
OMIM:609136	SOX10	6663	HP:0001265	Hyporeflexia
OMIM:609136	SOX10	6663	HP:0002027	Abdominal pain
OMIM:609136	SOX10	6663	HP:0011096	Peripheral demyelination
OMIM:609136	SOX10	6663	HP:0002211	White forelock
OMIM:609136	SOX10	6663	HP:0001250	Seizures
OMIM:609136	SOX10	6663	HP:0000458	Anosmia
OMIM:609136	SOX10	6663	HP:0002804	Arthrogryposis multiplex congenita
OMIM:609136	SOX10	6663	HP:0001249	Intellectual disability
OMIM:609136	SOX10	6663	HP:0002460	Distal muscle weakness
OMIM:609136	SOX10	6663	HP:0002251	Aganglionic megacolon
ORPHANET:2021	COL11A1	1301	HP:0100625	Enlarged thorax
ORPHANET:2021	COL11A1	1301	HP:0002093	Respiratory insufficiency
ORPHANET:2021	COL11A1	1301	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2021	COL11A1	1301	HP:0000463	Anteverted nares
ORPHANET:2021	COL11A1	1301	HP:0000944	Abnormality of the metaphyses
ORPHANET:2021	COL11A1	1301	HP:0000316	Hypertelorism
ORPHANET:2021	COL11A1	1301	HP:0005280	Depressed nasal bridge
ORPHANET:2021	COL11A1	1301	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:2021	COL11A1	1301	HP:0001156	Brachydactyly syndrome
ORPHANET:2021	COL11A1	1301	HP:0000940	Abnormal diaphysis morphology
ORPHANET:2021	COL11A1	1301	HP:0000772	Abnormality of the ribs
ORPHANET:2021	COL11A1	1301	HP:0000364	Hearing abnormality
ORPHANET:2021	COL11A1	1301	HP:0000311	Round face
ORPHANET:2021	COL11A1	1301	HP:0000912	Sprengel anomaly
ORPHANET:2021	COL11A1	1301	HP:0001357	Plagiocephaly
ORPHANET:2021	COL11A1	1301	HP:0000494	Downslanted palpebral fissures
ORPHANET:2021	COL11A1	1301	HP:0000520	Proptosis
ORPHANET:2021	COL11A1	1301	HP:0002983	Micromelia
ORPHANET:2021	COL11A1	1301	HP:0001539	Omphalocele
ORPHANET:2021	COL11A1	1301	HP:0000160	Narrow mouth
ORPHANET:2021	COL11A1	1301	HP:0000774	Narrow chest
ORPHANET:2021	COL11A1	1301	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2021	COL11A1	1301	HP:0000470	Short neck
ORPHANET:2021	COL11A1	1301	HP:0001798	Anonychia
ORPHANET:2021	COL11A1	1301	HP:0004322	Short stature
ORPHANET:2021	COL11A1	1301	HP:0100490	Camptodactyly of finger
ORPHANET:2021	COL11A1	1301	HP:0000175	Cleft palate
ORPHANET:2021	COL11A2	1302	HP:0100625	Enlarged thorax
ORPHANET:2021	COL11A2	1302	HP:0002093	Respiratory insufficiency
ORPHANET:2021	COL11A2	1302	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:2021	COL11A2	1302	HP:0000463	Anteverted nares
ORPHANET:2021	COL11A2	1302	HP:0000944	Abnormality of the metaphyses
ORPHANET:2021	COL11A2	1302	HP:0000316	Hypertelorism
ORPHANET:2021	COL11A2	1302	HP:0005280	Depressed nasal bridge
ORPHANET:2021	COL11A2	1302	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:2021	COL11A2	1302	HP:0001156	Brachydactyly syndrome
ORPHANET:2021	COL11A2	1302	HP:0000940	Abnormal diaphysis morphology
ORPHANET:2021	COL11A2	1302	HP:0000772	Abnormality of the ribs
ORPHANET:2021	COL11A2	1302	HP:0000364	Hearing abnormality
ORPHANET:2021	COL11A2	1302	HP:0000311	Round face
ORPHANET:2021	COL11A2	1302	HP:0000912	Sprengel anomaly
ORPHANET:2021	COL11A2	1302	HP:0001357	Plagiocephaly
ORPHANET:2021	COL11A2	1302	HP:0000494	Downslanted palpebral fissures
ORPHANET:2021	COL11A2	1302	HP:0000520	Proptosis
ORPHANET:2021	COL11A2	1302	HP:0002983	Micromelia
ORPHANET:2021	COL11A2	1302	HP:0001539	Omphalocele
ORPHANET:2021	COL11A2	1302	HP:0000160	Narrow mouth
ORPHANET:2021	COL11A2	1302	HP:0000774	Narrow chest
ORPHANET:2021	COL11A2	1302	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2021	COL11A2	1302	HP:0000470	Short neck
ORPHANET:2021	COL11A2	1302	HP:0001798	Anonychia
ORPHANET:2021	COL11A2	1302	HP:0004322	Short stature
ORPHANET:2021	COL11A2	1302	HP:0100490	Camptodactyly of finger
ORPHANET:2021	COL11A2	1302	HP:0000175	Cleft palate
OMIM:614156	BLVRA	644	HP:0000007	Autosomal recessive inheritance
OMIM:614156	BLVRA	644	HP:0001396	Cholestasis
OMIM:614156	BLVRA	644	HP:0000006	Autosomal dominant inheritance
OMIM:614156	BLVRA	644	HP:0001081	Cholelithiasis
OMIM:614156	BLVRA	644	HP:0001410	Decreased liver function
OMIM:605282	CHSY1	22856	HP:0002974	Radioulnar synostosis
OMIM:605282	CHSY1	22856	HP:0000664	Synophrys
OMIM:605282	CHSY1	22856	HP:0000648	Optic atrophy
OMIM:605282	CHSY1	22856	HP:0000592	Blue sclerae
OMIM:605282	CHSY1	22856	HP:0010743	Short metatarsal
OMIM:605282	CHSY1	22856	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:605282	CHSY1	22856	HP:0009702	Carpal synostosis
OMIM:605282	CHSY1	22856	HP:0001156	Brachydactyly syndrome
OMIM:605282	CHSY1	22856	HP:0008368	Tarsal synostosis
OMIM:605282	CHSY1	22856	HP:0000175	Cleft palate
OMIM:605282	CHSY1	22856	HP:0001159	Syndactyly
OMIM:605282	CHSY1	22856	HP:0002553	Highly arched eyebrow
OMIM:605282	CHSY1	22856	HP:0000007	Autosomal recessive inheritance
OMIM:605282	CHSY1	22856	HP:0000691	Microdontia
OMIM:605282	CHSY1	22856	HP:0010049	Short metacarpal
OMIM:241550	GJA1	2697	HP:0004383	Hypoplastic left heart
OMIM:241550	NKX2-5	1482	HP:0004383	Hypoplastic left heart
ORPHANET:231249	HBB	3043	HP:0001903	Anemia
ORPHANET:231249	HBB	3043	HP:0011031	Abnormality of iron homeostasis
ORPHANET:231249	HBB	3043	HP:0010978	Abnormality of immune system physiology
OMIM:615058	SLC24A1	9187	HP:0000486	Strabismus
OMIM:615058	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:615058	SLC24A1	9187	HP:0000007	Autosomal recessive inheritance
OMIM:615058	SLC24A1	9187	HP:0000545	Myopia
OMIM:615058	GRM6	2916	HP:0000486	Strabismus
OMIM:615058	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:615058	GRM6	2916	HP:0000007	Autosomal recessive inheritance
OMIM:615058	GRM6	2916	HP:0000545	Myopia
OMIM:615058	PDE6B	5158	HP:0000486	Strabismus
OMIM:615058	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:615058	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:615058	PDE6B	5158	HP:0000545	Myopia
OMIM:615058	CACNA1F	778	HP:0000486	Strabismus
OMIM:615058	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:615058	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:615058	CACNA1F	778	HP:0000545	Myopia
OMIM:615058	LRIT3	345193	HP:0000486	Strabismus
OMIM:615058	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:615058	LRIT3	345193	HP:0000007	Autosomal recessive inheritance
OMIM:615058	LRIT3	345193	HP:0000545	Myopia
OMIM:615058	CABP4	57010	HP:0000486	Strabismus
OMIM:615058	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:615058	CABP4	57010	HP:0000007	Autosomal recessive inheritance
OMIM:615058	CABP4	57010	HP:0000545	Myopia
OMIM:615058	CACNA2D4	93589	HP:0000486	Strabismus
OMIM:615058	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:615058	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:615058	CACNA2D4	93589	HP:0000545	Myopia
OMIM:615058	TRPM1	4308	HP:0000486	Strabismus
OMIM:615058	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:615058	TRPM1	4308	HP:0000007	Autosomal recessive inheritance
OMIM:615058	TRPM1	4308	HP:0000545	Myopia
OMIM:615058	GPR179	440435	HP:0000486	Strabismus
OMIM:615058	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:615058	GPR179	440435	HP:0000007	Autosomal recessive inheritance
OMIM:615058	GPR179	440435	HP:0000545	Myopia
OMIM:615058	SAG	6295	HP:0000486	Strabismus
OMIM:615058	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:615058	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:615058	SAG	6295	HP:0000545	Myopia
OMIM:615058	RHO	6010	HP:0000486	Strabismus
OMIM:615058	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:615058	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:615058	RHO	6010	HP:0000545	Myopia
OMIM:615058	NYX	60506	HP:0000486	Strabismus
OMIM:615058	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:615058	NYX	60506	HP:0000007	Autosomal recessive inheritance
OMIM:615058	NYX	60506	HP:0000545	Myopia
OMIM:615058	GNAT1	2779	HP:0000486	Strabismus
OMIM:615058	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:615058	GNAT1	2779	HP:0000007	Autosomal recessive inheritance
OMIM:615058	GNAT1	2779	HP:0000545	Myopia
OMIM:615058	GRK1	6011	HP:0000486	Strabismus
OMIM:615058	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:615058	GRK1	6011	HP:0000007	Autosomal recessive inheritance
OMIM:615058	GRK1	6011	HP:0000545	Myopia
OMIM:615703	CEP19	84984	HP:0003124	Hypercholesterolemia
OMIM:615703	CEP19	84984	HP:0005978	Type II diabetes mellitus
OMIM:615703	CEP19	84984	HP:0000789	Infertility
OMIM:615703	CEP19	84984	HP:0001635	Congestive heart failure
OMIM:615703	CEP19	84984	HP:0001513	Obesity
OMIM:615703	CEP19	84984	HP:0001249	Intellectual disability
OMIM:615703	CEP19	84984	HP:0000027	Azoospermia
OMIM:615703	CEP19	84984	HP:0000007	Autosomal recessive inheritance
OMIM:615703	CEP19	84984	HP:0000822	Hypertension
OMIM:615703	CEP19	84984	HP:0001397	Hepatic steatosis
OMIM:615703	CEP19	84984	HP:0002155	Hypertriglyceridemia
OMIM:615703	CEP19	84984	HP:0000855	Insulin resistance
OMIM:615703	CEP19	84984	HP:0003233	Hypoalphalipoproteinemia
OMIM:615703	CEP19	84984	HP:0001658	Myocardial infarction
OMIM:613856	RPGR	6103	HP:0000613	Photophobia
OMIM:613856	RPGR	6103	HP:0000505	Visual impairment
OMIM:613856	RPGR	6103	HP:0000639	Nystagmus
OMIM:613856	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613856	CNGB3	54714	HP:0000613	Photophobia
OMIM:613856	CNGB3	54714	HP:0000505	Visual impairment
OMIM:613856	CNGB3	54714	HP:0000639	Nystagmus
OMIM:613856	CNGB3	54714	HP:0000007	Autosomal recessive inheritance
OMIM:613856	PDE6C	5146	HP:0000613	Photophobia
OMIM:613856	PDE6C	5146	HP:0000505	Visual impairment
OMIM:613856	PDE6C	5146	HP:0000639	Nystagmus
OMIM:613856	PDE6C	5146	HP:0000007	Autosomal recessive inheritance
OMIM:613856	GNAT2	2780	HP:0000613	Photophobia
OMIM:613856	GNAT2	2780	HP:0000505	Visual impairment
OMIM:613856	GNAT2	2780	HP:0000639	Nystagmus
OMIM:613856	GNAT2	2780	HP:0000007	Autosomal recessive inheritance
OMIM:613856	CNGA3	1261	HP:0000613	Photophobia
OMIM:613856	CNGA3	1261	HP:0000505	Visual impairment
OMIM:613856	CNGA3	1261	HP:0000639	Nystagmus
OMIM:613856	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:613856	PDE6H	5149	HP:0000613	Photophobia
OMIM:613856	PDE6H	5149	HP:0000505	Visual impairment
OMIM:613856	PDE6H	5149	HP:0000639	Nystagmus
OMIM:613856	PDE6H	5149	HP:0000007	Autosomal recessive inheritance
OMIM:613856	ATF6	22926	HP:0000613	Photophobia
OMIM:613856	ATF6	22926	HP:0000505	Visual impairment
OMIM:613856	ATF6	22926	HP:0000639	Nystagmus
OMIM:613856	ATF6	22926	HP:0000007	Autosomal recessive inheritance
ORPHANET:3463	CISD2	493856	HP:0000821	Hypothyroidism
ORPHANET:3463	CISD2	493856	HP:0002093	Respiratory insufficiency
ORPHANET:3463	CISD2	493856	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:3463	CISD2	493856	HP:0009830	Peripheral neuropathy
ORPHANET:3463	CISD2	493856	HP:0001943	Hypoglycemia
ORPHANET:3463	CISD2	493856	HP:0100543	Cognitive impairment
ORPHANET:3463	CISD2	493856	HP:0000597	Ophthalmoparesis
ORPHANET:3463	CISD2	493856	HP:0002019	Constipation
ORPHANET:3463	CISD2	493856	HP:0004372	Reduced consciousness/confusion
ORPHANET:3463	CISD2	493856	HP:0002167	Neurological speech impairment
ORPHANET:3463	CISD2	493856	HP:0003198	Myopathy
ORPHANET:3463	CISD2	493856	HP:0002104	Apnea
ORPHANET:3463	CISD2	493856	HP:0000639	Nystagmus
ORPHANET:3463	CISD2	493856	HP:0000112	Nephropathy
ORPHANET:3463	CISD2	493856	HP:0000819	Diabetes mellitus
ORPHANET:3463	CISD2	493856	HP:0008872	Feeding difficulties in infancy
ORPHANET:3463	CISD2	493856	HP:0000648	Optic atrophy
ORPHANET:3463	CISD2	493856	HP:0000365	Hearing impairment
ORPHANET:3463	CISD2	493856	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:3463	CISD2	493856	HP:0000488	Retinopathy
ORPHANET:3463	CISD2	493856	HP:0000873	Diabetes insipidus
ORPHANET:3463	CISD2	493856	HP:0001635	Congestive heart failure
ORPHANET:3463	CISD2	493856	HP:0001250	Seizures
ORPHANET:3463	CISD2	493856	HP:0002360	Sleep disturbance
ORPHANET:3463	CISD2	493856	HP:0002205	Recurrent respiratory infections
ORPHANET:3463	CISD2	493856	HP:0002376	Developmental regression
ORPHANET:3463	CISD2	493856	HP:0002311	Incoordination
ORPHANET:3463	CISD2	493856	HP:0001376	Limitation of joint mobility
ORPHANET:3463	CISD2	493856	HP:0002024	Malabsorption
ORPHANET:3463	CISD2	493856	HP:0002270	Abnormality of the autonomic nervous system
ORPHANET:3463	CISD2	493856	HP:0000501	Glaucoma
ORPHANET:3463	CISD2	493856	HP:0000518	Cataract
ORPHANET:3463	CISD2	493856	HP:0000010	Recurrent urinary tract infections
ORPHANET:3463	CISD2	493856	HP:0000738	Hallucinations
ORPHANET:3463	CISD2	493856	HP:0004295	Abnormality of the gastric mucosa
ORPHANET:3463	CISD2	493856	HP:0002120	Cerebral cortical atrophy
ORPHANET:3463	CISD2	493856	HP:0000505	Visual impairment
ORPHANET:3463	CISD2	493856	HP:0000083	Renal insufficiency
ORPHANET:3463	CISD2	493856	HP:0000078	Abnormality of the genital system
ORPHANET:3463	CISD2	493856	HP:0001903	Anemia
ORPHANET:3463	WFS1	7466	HP:0000821	Hypothyroidism
ORPHANET:3463	WFS1	7466	HP:0002093	Respiratory insufficiency
ORPHANET:3463	WFS1	7466	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:3463	WFS1	7466	HP:0009830	Peripheral neuropathy
ORPHANET:3463	WFS1	7466	HP:0001943	Hypoglycemia
ORPHANET:3463	WFS1	7466	HP:0100543	Cognitive impairment
ORPHANET:3463	WFS1	7466	HP:0000597	Ophthalmoparesis
ORPHANET:3463	WFS1	7466	HP:0002019	Constipation
ORPHANET:3463	WFS1	7466	HP:0004372	Reduced consciousness/confusion
ORPHANET:3463	WFS1	7466	HP:0002167	Neurological speech impairment
ORPHANET:3463	WFS1	7466	HP:0003198	Myopathy
ORPHANET:3463	WFS1	7466	HP:0002104	Apnea
ORPHANET:3463	WFS1	7466	HP:0000639	Nystagmus
ORPHANET:3463	WFS1	7466	HP:0000112	Nephropathy
ORPHANET:3463	WFS1	7466	HP:0000819	Diabetes mellitus
ORPHANET:3463	WFS1	7466	HP:0008872	Feeding difficulties in infancy
ORPHANET:3463	WFS1	7466	HP:0000648	Optic atrophy
ORPHANET:3463	WFS1	7466	HP:0000365	Hearing impairment
ORPHANET:3463	WFS1	7466	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:3463	WFS1	7466	HP:0000488	Retinopathy
ORPHANET:3463	WFS1	7466	HP:0000873	Diabetes insipidus
ORPHANET:3463	WFS1	7466	HP:0001635	Congestive heart failure
ORPHANET:3463	WFS1	7466	HP:0001250	Seizures
ORPHANET:3463	WFS1	7466	HP:0002360	Sleep disturbance
ORPHANET:3463	WFS1	7466	HP:0002205	Recurrent respiratory infections
ORPHANET:3463	WFS1	7466	HP:0002376	Developmental regression
ORPHANET:3463	WFS1	7466	HP:0002311	Incoordination
ORPHANET:3463	WFS1	7466	HP:0001376	Limitation of joint mobility
ORPHANET:3463	WFS1	7466	HP:0002024	Malabsorption
ORPHANET:3463	WFS1	7466	HP:0002270	Abnormality of the autonomic nervous system
ORPHANET:3463	WFS1	7466	HP:0000501	Glaucoma
ORPHANET:3463	WFS1	7466	HP:0000518	Cataract
ORPHANET:3463	WFS1	7466	HP:0000010	Recurrent urinary tract infections
ORPHANET:3463	WFS1	7466	HP:0000738	Hallucinations
ORPHANET:3463	WFS1	7466	HP:0004295	Abnormality of the gastric mucosa
ORPHANET:3463	WFS1	7466	HP:0002120	Cerebral cortical atrophy
ORPHANET:3463	WFS1	7466	HP:0000505	Visual impairment
ORPHANET:3463	WFS1	7466	HP:0000083	Renal insufficiency
ORPHANET:3463	WFS1	7466	HP:0000078	Abnormality of the genital system
ORPHANET:3463	WFS1	7466	HP:0001903	Anemia
OMIM:615028	EXPH5	23086	HP:0000962	Hyperkeratosis
OMIM:615028	EXPH5	23086	HP:0000007	Autosomal recessive inheritance
OMIM:615028	EXPH5	23086	HP:0001030	Fragile skin
OMIM:614496	CUL3	8452	HP:0011423	Hyperchloremia
OMIM:614496	CUL3	8452	HP:0008242	Pseudohypoaldosteronism
OMIM:614496	CUL3	8452	HP:0001942	Metabolic acidosis
OMIM:614496	CUL3	8452	HP:0000822	Hypertension
OMIM:614496	CUL3	8452	HP:0000006	Autosomal dominant inheritance
OMIM:614496	CUL3	8452	HP:0002153	Hyperkalemia
OMIM:120435	PMS1	5378	HP:0000006	Autosomal dominant inheritance
OMIM:120435	MLH1	4292	HP:0000006	Autosomal dominant inheritance
OMIM:120435	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:120435	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:120435	EPCAM	4072	HP:0000006	Autosomal dominant inheritance
OMIM:120435	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:120435	MSH6	2956	HP:0000006	Autosomal dominant inheritance
OMIM:120435	RPS20	6224	HP:0000006	Autosomal dominant inheritance
OMIM:120435	BMPR1A	657	HP:0000006	Autosomal dominant inheritance
OMIM:120435	PMS2	5395	HP:0000006	Autosomal dominant inheritance
OMIM:120435	MSH2	4436	HP:0000006	Autosomal dominant inheritance
OMIM:120435	MLH3	27030	HP:0000006	Autosomal dominant inheritance
OMIM:120435	LRRFIP2	9209	HP:0000006	Autosomal dominant inheritance
OMIM:265100	SLC34A2	10568	HP:0000007	Autosomal recessive inheritance
OMIM:265100	SLC34A2	10568	HP:0003674	Onset
OMIM:265100	SLC34A2	10568	HP:0003677	Slow progression
OMIM:600121	AGPS	8540	HP:0005792	Short humerus
OMIM:600121	AGPS	8540	HP:0008905	Rhizomelia
OMIM:600121	AGPS	8540	HP:0001508	Failure to thrive
OMIM:600121	AGPS	8540	HP:0000007	Autosomal recessive inheritance
OMIM:600121	AGPS	8540	HP:0010655	Epiphyseal stippling
OMIM:611705	TTN	7273	HP:0003577	Congenital onset
OMIM:611705	TTN	7273	HP:0011675	Arrhythmia
OMIM:611705	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:611705	TTN	7273	HP:0000007	Autosomal recessive inheritance
OMIM:611705	TTN	7273	HP:0003593	Infantile onset
OMIM:611705	TTN	7273	HP:0003198	Myopathy
OMIM:611705	TTN	7273	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:611705	TTN	7273	HP:0001270	Motor delay
OMIM:611705	TTN	7273	HP:0000508	Ptosis
OMIM:611705	TTN	7273	HP:0001699	Sudden death
OMIM:611705	TTN	7273	HP:0003236	Elevated serum creatine phosphokinase
OMIM:611705	TTN	7273	HP:0003324	Generalized muscle weakness
OMIM:611705	TTN	7273	HP:0010628	Facial palsy
OMIM:611705	TTN	7273	HP:0008981	Calf muscle hypertrophy
OMIM:604364	DEPDC5	9681	HP:0001250	Seizures
OMIM:604364	DEPDC5	9681	HP:0000006	Autosomal dominant inheritance
OMIM:604364	DEPDC5	9681	HP:0001249	Intellectual disability
OMIM:604364	DEPDC5	9681	HP:0000729	Autistic behavior
OMIM:604364	DEPDC5	9681	HP:0003829	Incomplete penetrance
OMIM:603688	BRCA1	672	HP:0012125	Prostate cancer
OMIM:603688	BRCA1	672	HP:0100006	Neoplasm of the central nervous system
OMIM:603688	CHEK2	11200	HP:0012125	Prostate cancer
OMIM:603688	CHEK2	11200	HP:0100006	Neoplasm of the central nervous system
OMIM:603688	ELAC2	60528	HP:0012125	Prostate cancer
OMIM:603688	ELAC2	60528	HP:0100006	Neoplasm of the central nervous system
OMIM:603688	EPHB2	2048	HP:0012125	Prostate cancer
OMIM:603688	EPHB2	2048	HP:0100006	Neoplasm of the central nervous system
OMIM:603688	HNF1B	6928	HP:0012125	Prostate cancer
OMIM:603688	HNF1B	6928	HP:0100006	Neoplasm of the central nervous system
OMIM:603688	HOXB13	10481	HP:0012125	Prostate cancer
OMIM:603688	HOXB13	10481	HP:0100006	Neoplasm of the central nervous system
OMIM:603688	MSR1	4481	HP:0012125	Prostate cancer
OMIM:603688	MSR1	4481	HP:0100006	Neoplasm of the central nervous system
OMIM:603688	BRCA2	675	HP:0012125	Prostate cancer
OMIM:603688	BRCA2	675	HP:0100006	Neoplasm of the central nervous system
OMIM:603688	RNASEL	6041	HP:0012125	Prostate cancer
OMIM:603688	RNASEL	6041	HP:0100006	Neoplasm of the central nervous system
OMIM:603688	NBN	4683	HP:0012125	Prostate cancer
OMIM:603688	NBN	4683	HP:0100006	Neoplasm of the central nervous system
OMIM:603688	SRD5A2	6716	HP:0012125	Prostate cancer
OMIM:603688	SRD5A2	6716	HP:0100006	Neoplasm of the central nervous system
OMIM:603688	MSMB	4477	HP:0012125	Prostate cancer
OMIM:603688	MSMB	4477	HP:0100006	Neoplasm of the central nervous system
OMIM:614402	VAX1	11023	HP:0001274	Agenesis of corpus callosum
OMIM:614402	VAX1	11023	HP:0000204	Cleft upper lip
OMIM:614402	VAX1	11023	HP:0000007	Autosomal recessive inheritance
OMIM:614402	VAX1	11023	HP:0001263	Global developmental delay
OMIM:614402	VAX1	11023	HP:0000568	Microphthalmia
OMIM:614402	VAX1	11023	HP:0000175	Cleft palate
OMIM:194080	WT1	7490	HP:0000093	Proteinuria
OMIM:194080	WT1	7490	HP:0000100	Nephrotic syndrome
OMIM:194080	WT1	7490	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:194080	WT1	7490	HP:0000133	Gonadal dysgenesis
OMIM:194080	WT1	7490	HP:0000776	Congenital diaphragmatic hernia
OMIM:194080	WT1	7490	HP:0010459	True hermaphroditism
OMIM:194080	WT1	7490	HP:0000822	Hypertension
OMIM:194080	WT1	7490	HP:0003774	Stage 5 chronic kidney disease
OMIM:194080	WT1	7490	HP:0000037	Male pseudohermaphroditism
OMIM:194080	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:194080	WT1	7490	HP:0001428	Somatic mutation
OMIM:194080	WT1	7490	HP:0000112	Nephropathy
OMIM:194080	WT1	7490	HP:0000097	Focal segmental glomerulosclerosis
OMIM:206800	RSPO4	343637	HP:0001798	Anonychia
OMIM:206800	RSPO4	343637	HP:0000007	Autosomal recessive inheritance
OMIM:250800	CYB5R3	1727	HP:0000007	Autosomal recessive inheritance
OMIM:250800	CYB5R3	1727	HP:0000252	Microcephaly
OMIM:250800	CYB5R3	1727	HP:0000961	Cyanosis
OMIM:250800	CYB5R3	1727	HP:0001249	Intellectual disability
OMIM:250800	CYB5R3	1727	HP:0001510	Growth delay
OMIM:250800	CYB5R3	1727	HP:0001263	Global developmental delay
OMIM:250800	CYB5R3	1727	HP:0001901	Polycythemia
OMIM:250800	CYB5R3	1727	HP:0002179	Opisthotonus
OMIM:250800	CYB5R3	1727	HP:0001276	Hypertonia
OMIM:250800	CYB5R3	1727	HP:0002315	Headache
OMIM:250800	CYB5R3	1727	HP:0000486	Strabismus
OMIM:604772	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:604772	CALM1	801	HP:0005110	Atrial fibrillation
OMIM:604772	CALM1	801	HP:0001250	Seizures
OMIM:604772	CALM1	801	HP:0001699	Sudden death
OMIM:604772	CALM1	801	HP:0001279	Syncope
OMIM:604772	CALM1	801	HP:0004756	Ventricular tachycardia
OMIM:604772	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:604772	CALM2	805	HP:0005110	Atrial fibrillation
OMIM:604772	CALM2	805	HP:0001250	Seizures
OMIM:604772	CALM2	805	HP:0001699	Sudden death
OMIM:604772	CALM2	805	HP:0001279	Syncope
OMIM:604772	CALM2	805	HP:0004756	Ventricular tachycardia
OMIM:604772	RYR2	6262	HP:0000006	Autosomal dominant inheritance
OMIM:604772	RYR2	6262	HP:0005110	Atrial fibrillation
OMIM:604772	RYR2	6262	HP:0001250	Seizures
OMIM:604772	RYR2	6262	HP:0001699	Sudden death
OMIM:604772	RYR2	6262	HP:0001279	Syncope
OMIM:604772	RYR2	6262	HP:0004756	Ventricular tachycardia
OMIM:604772	CALM3	808	HP:0000006	Autosomal dominant inheritance
OMIM:604772	CALM3	808	HP:0005110	Atrial fibrillation
OMIM:604772	CALM3	808	HP:0001250	Seizures
OMIM:604772	CALM3	808	HP:0001699	Sudden death
OMIM:604772	CALM3	808	HP:0001279	Syncope
OMIM:604772	CALM3	808	HP:0004756	Ventricular tachycardia
OMIM:604772	TRDN	10345	HP:0000006	Autosomal dominant inheritance
OMIM:604772	TRDN	10345	HP:0005110	Atrial fibrillation
OMIM:604772	TRDN	10345	HP:0001250	Seizures
OMIM:604772	TRDN	10345	HP:0001699	Sudden death
OMIM:604772	TRDN	10345	HP:0001279	Syncope
OMIM:604772	TRDN	10345	HP:0004756	Ventricular tachycardia
OMIM:604772	CASQ2	845	HP:0000006	Autosomal dominant inheritance
OMIM:604772	CASQ2	845	HP:0005110	Atrial fibrillation
OMIM:604772	CASQ2	845	HP:0001250	Seizures
OMIM:604772	CASQ2	845	HP:0001699	Sudden death
OMIM:604772	CASQ2	845	HP:0001279	Syncope
OMIM:604772	CASQ2	845	HP:0004756	Ventricular tachycardia
OMIM:610504	SERPINH1	871	HP:0010982	Polygenic inheritance
OMIM:265000	CHRNG	1146	HP:0000776	Congenital diaphragmatic hernia
OMIM:265000	CHRNG	1146	HP:0000316	Hypertelorism
OMIM:265000	CHRNG	1146	HP:0001166	Arachnodactyly
OMIM:265000	CHRNG	1146	HP:0000465	Webbed neck
OMIM:265000	CHRNG	1146	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:265000	CHRNG	1146	HP:0000347	Micrognathia
OMIM:265000	CHRNG	1146	HP:0003422	Vertebral segmentation defect
OMIM:265000	CHRNG	1146	HP:0001646	Abnormality of the aortic valve
OMIM:265000	CHRNG	1146	HP:0001724	Aortic dilatation
OMIM:265000	CHRNG	1146	HP:0002808	Kyphosis
OMIM:265000	CHRNG	1146	HP:0002804	Arthrogryposis multiplex congenita
OMIM:265000	CHRNG	1146	HP:0001838	Rocker bottom foot
OMIM:265000	CHRNG	1146	HP:0001511	Intrauterine growth retardation
OMIM:265000	CHRNG	1146	HP:0003202	Skeletal muscle atrophy
OMIM:265000	CHRNG	1146	HP:0001288	Gait disturbance
OMIM:265000	CHRNG	1146	HP:0000046	Scrotal hypoplasia
OMIM:265000	CHRNG	1146	HP:0000286	Epicanthus
OMIM:265000	CHRNG	1146	HP:0000343	Long philtrum
OMIM:265000	CHRNG	1146	HP:0000506	Telecanthus
OMIM:265000	CHRNG	1146	HP:0001537	Umbilical hernia
OMIM:265000	CHRNG	1146	HP:0002714	Downturned corners of mouth
OMIM:265000	CHRNG	1146	HP:0000218	High palate
OMIM:265000	CHRNG	1146	HP:0003298	Spina bifida occulta
OMIM:265000	CHRNG	1146	HP:0002012	Abnormality of the abdominal organs
OMIM:265000	CHRNG	1146	HP:0000160	Narrow mouth
OMIM:265000	CHRNG	1146	HP:0004322	Short stature
OMIM:265000	CHRNG	1146	HP:0002827	Hip dislocation
OMIM:265000	CHRNG	1146	HP:0000268	Dolichocephaly
OMIM:265000	CHRNG	1146	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:265000	CHRNG	1146	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:265000	CHRNG	1146	HP:0001159	Syndactyly
OMIM:265000	CHRNG	1146	HP:0000767	Pectus excavatum
OMIM:265000	CHRNG	1146	HP:0003083	Dislocated radial head
OMIM:265000	CHRNG	1146	HP:0008736	Hypoplasia of penis
OMIM:265000	CHRNG	1146	HP:0000252	Microcephaly
OMIM:265000	CHRNG	1146	HP:0002093	Respiratory insufficiency
OMIM:265000	CHRNG	1146	HP:0000494	Downslanted palpebral fissures
OMIM:265000	CHRNG	1146	HP:0000028	Cryptorchidism
OMIM:265000	CHRNG	1146	HP:0000276	Long face
OMIM:265000	CHRNG	1146	HP:0000175	Cleft palate
OMIM:265000	CHRNG	1146	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:265000	CHRNG	1146	HP:0000405	Conductive hearing impairment
OMIM:265000	CHRNG	1146	HP:0001558	Decreased fetal movement
OMIM:265000	CHRNG	1146	HP:0000324	Facial asymmetry
OMIM:265000	CHRNG	1146	HP:0006101	Finger syndactyly
OMIM:265000	CHRNG	1146	HP:0100490	Camptodactyly of finger
OMIM:265000	CHRNG	1146	HP:0002949	Fused cervical vertebrae
OMIM:265000	CHRNG	1146	HP:0000368	Low-set, posteriorly rotated ears
OMIM:265000	CHRNG	1146	HP:0000369	Low-set ears
OMIM:265000	CHRNG	1146	HP:0000055	Abnormality of female external genitalia
OMIM:265000	CHRNG	1146	HP:0000772	Abnormality of the ribs
OMIM:265000	CHRNG	1146	HP:0000508	Ptosis
OMIM:265000	CHRNG	1146	HP:0002650	Scoliosis
OMIM:265000	CHRNG	1146	HP:0000464	Abnormality of the neck
OMIM:265000	CHRNG	1146	HP:0000007	Autosomal recessive inheritance
OMIM:265000	CHRNG	1146	HP:0000023	Inguinal hernia
OMIM:265000	CHRNG	1146	HP:0000307	Pointed chin
OMIM:265000	CHRNG	1146	HP:0002557	Hypoplastic nipples
OMIM:265000	CHRNG	1146	HP:0000486	Strabismus
OMIM:265000	CHRNG	1146	HP:0100543	Cognitive impairment
OMIM:265000	CHRNG	1146	HP:0002089	Pulmonary hypoplasia
OMIM:265000	CHRNG	1146	HP:0006443	Patellar aplasia
OMIM:265000	CHRNG	1146	HP:0000047	Hypospadias
OMIM:265000	CHRNG	1146	HP:0001760	Abnormality of the foot
OMIM:265000	CHRNG	1146	HP:0001376	Limitation of joint mobility
OMIM:265000	CHRNG	1146	HP:0001762	Talipes equinovarus
OMIM:265000	CHRNG	1146	HP:0002162	Low posterior hairline
OMIM:608118	SLC30A2	7780	HP:0000007	Autosomal recessive inheritance
OMIM:608118	SLC30A2	7780	HP:0000964	Eczema
OMIM:608118	SLC30A2	7780	HP:0002242	Abnormality of the intestine
OMIM:239200	CASR	846	HP:0008872	Feeding difficulties in infancy
OMIM:239200	CASR	846	HP:0000944	Abnormality of the metaphyses
OMIM:239200	CASR	846	HP:0001903	Anemia
OMIM:239200	CASR	846	HP:0000843	Hyperparathyroidism
OMIM:239200	CASR	846	HP:0001252	Muscular hypotonia
OMIM:239200	CASR	846	HP:0002019	Constipation
OMIM:239200	CASR	846	HP:0003072	Hypercalcemia
OMIM:239200	CASR	846	HP:0004322	Short stature
OMIM:239200	CASR	846	HP:0002094	Dyspnea
OMIM:239200	CASR	846	HP:0003025	Metaphyseal irregularity
OMIM:239200	CASR	846	HP:0100530	Abnormality of calcium-phosphate metabolism
OMIM:239200	CASR	846	HP:0002240	Hepatomegaly
OMIM:239200	CASR	846	HP:0000774	Narrow chest
OMIM:239200	CASR	846	HP:0002148	Hypophosphatemia
OMIM:239200	CASR	846	HP:0002757	Recurrent fractures
OMIM:239200	CASR	846	HP:0001508	Failure to thrive
OMIM:239200	CASR	846	HP:0003355	Aminoaciduria
OMIM:239200	CASR	846	HP:0002789	Tachypnea
OMIM:239200	CASR	846	HP:0012211	Abnormal renal physiology
OMIM:239200	CASR	846	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:239200	CASR	846	HP:0003761	Calcinosis
OMIM:239200	CASR	846	HP:0001744	Splenomegaly
OMIM:239200	CASR	846	HP:0002150	Hypercalciuria
OMIM:616539	TRMT5	57570	HP:0002151	Increased serum lactate
OMIM:137200	HINT1	3094	HP:0009027	Foot dorsiflexor weakness
OMIM:137200	HINT1	3094	HP:0000007	Autosomal recessive inheritance
OMIM:137200	HINT1	3094	HP:0003236	Elevated serum creatine phosphokinase
OMIM:137200	HINT1	3094	HP:0002380	Fasciculations
OMIM:137200	HINT1	3094	HP:0001760	Abnormality of the foot
OMIM:137200	HINT1	3094	HP:0003202	Skeletal muscle atrophy
OMIM:137200	HINT1	3094	HP:0003394	Muscle cramps
OMIM:137200	HINT1	3094	HP:0000975	Hyperhidrosis
OMIM:137200	HINT1	3094	HP:0003676	Progressive
OMIM:224900	EDAR	10913	HP:0000970	Anhidrosis
OMIM:224900	EDAR	10913	HP:0000535	Sparse eyebrow
OMIM:224900	EDAR	10913	HP:0000007	Autosomal recessive inheritance
OMIM:224900	EDAR	10913	HP:0002007	Frontal bossing
OMIM:224900	EDAR	10913	HP:0000653	Sparse eyelashes
OMIM:224900	EDAR	10913	HP:0000691	Microdontia
OMIM:224900	EDAR	10913	HP:0000232	Everted lower lip vermilion
OMIM:224900	EDAR	10913	HP:0012471	Thick vermilion border
OMIM:224900	EDAR	10913	HP:0000668	Hypodontia
OMIM:224900	EDAR	10913	HP:0000966	Hypohidrosis
OMIM:224900	EDAR	10913	HP:0005280	Depressed nasal bridge
OMIM:224900	EDAR	10913	HP:0000674	Anodontia
OMIM:224900	EDARADD	128178	HP:0000970	Anhidrosis
OMIM:224900	EDARADD	128178	HP:0000535	Sparse eyebrow
OMIM:224900	EDARADD	128178	HP:0000007	Autosomal recessive inheritance
OMIM:224900	EDARADD	128178	HP:0002007	Frontal bossing
OMIM:224900	EDARADD	128178	HP:0000653	Sparse eyelashes
OMIM:224900	EDARADD	128178	HP:0000691	Microdontia
OMIM:224900	EDARADD	128178	HP:0000232	Everted lower lip vermilion
OMIM:224900	EDARADD	128178	HP:0012471	Thick vermilion border
OMIM:224900	EDARADD	128178	HP:0000668	Hypodontia
OMIM:224900	EDARADD	128178	HP:0000966	Hypohidrosis
OMIM:224900	EDARADD	128178	HP:0005280	Depressed nasal bridge
OMIM:224900	EDARADD	128178	HP:0000674	Anodontia
OMIM:224900	WNT10A	80326	HP:0000970	Anhidrosis
OMIM:224900	WNT10A	80326	HP:0000535	Sparse eyebrow
OMIM:224900	WNT10A	80326	HP:0000007	Autosomal recessive inheritance
OMIM:224900	WNT10A	80326	HP:0002007	Frontal bossing
OMIM:224900	WNT10A	80326	HP:0000653	Sparse eyelashes
OMIM:224900	WNT10A	80326	HP:0000691	Microdontia
OMIM:224900	WNT10A	80326	HP:0000232	Everted lower lip vermilion
OMIM:224900	WNT10A	80326	HP:0012471	Thick vermilion border
OMIM:224900	WNT10A	80326	HP:0000668	Hypodontia
OMIM:224900	WNT10A	80326	HP:0000966	Hypohidrosis
OMIM:224900	WNT10A	80326	HP:0005280	Depressed nasal bridge
OMIM:224900	WNT10A	80326	HP:0000674	Anodontia
OMIM:614350	PMS1	5378	HP:0000006	Autosomal dominant inheritance
OMIM:614350	MLH1	4292	HP:0000006	Autosomal dominant inheritance
OMIM:614350	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:614350	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:614350	EPCAM	4072	HP:0000006	Autosomal dominant inheritance
OMIM:614350	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:614350	MSH6	2956	HP:0000006	Autosomal dominant inheritance
OMIM:614350	RPS20	6224	HP:0000006	Autosomal dominant inheritance
OMIM:614350	BMPR1A	657	HP:0000006	Autosomal dominant inheritance
OMIM:614350	PMS2	5395	HP:0000006	Autosomal dominant inheritance
OMIM:614350	MSH2	4436	HP:0000006	Autosomal dominant inheritance
OMIM:614350	MLH3	27030	HP:0000006	Autosomal dominant inheritance
OMIM:614350	LRRFIP2	9209	HP:0000006	Autosomal dominant inheritance
OMIM:169150	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:169150	PRPH2	5961	HP:0000613	Photophobia
OMIM:169150	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:612201	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:612201	GATA4	2626	HP:0005110	Atrial fibrillation
OMIM:612201	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:612201	GATA6	2627	HP:0005110	Atrial fibrillation
OMIM:612201	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:612201	KCNE2	9992	HP:0005110	Atrial fibrillation
OMIM:612201	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:612201	KCNQ1	3784	HP:0005110	Atrial fibrillation
OMIM:612201	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:612201	KCNE1	3753	HP:0005110	Atrial fibrillation
OMIM:612201	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:612201	NKX2-5	1482	HP:0005110	Atrial fibrillation
OMIM:612201	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:612201	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:612201	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:612201	NPPA	4878	HP:0005110	Atrial fibrillation
OMIM:612201	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:612201	GJA5	2702	HP:0005110	Atrial fibrillation
OMIM:612201	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:612201	KCNJ2	3759	HP:0005110	Atrial fibrillation
OMIM:612201	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:612201	NKX2-6	137814	HP:0005110	Atrial fibrillation
OMIM:612201	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:612201	GATA5	140628	HP:0005110	Atrial fibrillation
OMIM:612201	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:612201	SCN2B	6327	HP:0005110	Atrial fibrillation
OMIM:612201	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:612201	SCN3B	55800	HP:0005110	Atrial fibrillation
OMIM:612201	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:612201	SCN4B	6330	HP:0005110	Atrial fibrillation
OMIM:612201	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:612201	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:612201	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:612201	PITX2	5308	HP:0005110	Atrial fibrillation
OMIM:612201	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
OMIM:612201	KCNA5	3741	HP:0005110	Atrial fibrillation
OMIM:612201	NUP155	9631	HP:0000006	Autosomal dominant inheritance
OMIM:612201	NUP155	9631	HP:0005110	Atrial fibrillation
OMIM:306400	CYBB	1536	HP:0002742	Recurrent Klebsiella infections
OMIM:306400	CYBB	1536	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:306400	CYBB	1536	HP:0002955	Granulomatosis
OMIM:306400	CYBB	1536	HP:0002724	Recurrent Aspergillus infections
OMIM:306400	CYBB	1536	HP:0006532	Recurrent pneumonia
OMIM:306400	CYBB	1536	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:306400	CYBB	1536	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:306400	CYBB	1536	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:306400	CYBB	1536	HP:0002740	Recurrent E. coli infections
OMIM:306400	CYBB	1536	HP:0007417	Discoid lupus erythematosus
OMIM:306400	CYBB	1536	HP:0003621	Juvenile onset
OMIM:306400	CYBB	1536	HP:0002840	Lymphadenitis
OMIM:306400	CYBB	1536	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:306400	CYBB	1536	HP:0001419	X-linked recessive inheritance
OMIM:306400	CYBB	1536	HP:0003206	Decreased activity of NADPH oxidase
OMIM:306400	CYBB	1536	HP:0005406	Recurrent bacterial skin infections
OMIM:306400	CYBB	1536	HP:0005224	Rectal abscess
OMIM:306400	CYBB	1536	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:306400	CYBB	1536	HP:0002240	Hepatomegaly
OMIM:306400	CYBB	1536	HP:0002741	Recurrent Serratia marcescens infections
OMIM:306400	CYBB	1536	HP:0001744	Splenomegaly
OMIM:306400	CYBB	1536	HP:0002716	Lymphadenopathy
OMIM:306400	CYBB	1536	HP:0003553	Cellulitis due to immunodeficiency
OMIM:306400	CYBB	1536	HP:0000976	Eczematoid dermatitis
OMIM:306400	CYBB	1536	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:306400	NCF2	4688	HP:0002742	Recurrent Klebsiella infections
OMIM:306400	NCF2	4688	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:306400	NCF2	4688	HP:0002955	Granulomatosis
OMIM:306400	NCF2	4688	HP:0002724	Recurrent Aspergillus infections
OMIM:306400	NCF2	4688	HP:0006532	Recurrent pneumonia
OMIM:306400	NCF2	4688	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:306400	NCF2	4688	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:306400	NCF2	4688	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:306400	NCF2	4688	HP:0002740	Recurrent E. coli infections
OMIM:306400	NCF2	4688	HP:0007417	Discoid lupus erythematosus
OMIM:306400	NCF2	4688	HP:0003621	Juvenile onset
OMIM:306400	NCF2	4688	HP:0002840	Lymphadenitis
OMIM:306400	NCF2	4688	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:306400	NCF2	4688	HP:0001419	X-linked recessive inheritance
OMIM:306400	NCF2	4688	HP:0003206	Decreased activity of NADPH oxidase
OMIM:306400	NCF2	4688	HP:0005406	Recurrent bacterial skin infections
OMIM:306400	NCF2	4688	HP:0005224	Rectal abscess
OMIM:306400	NCF2	4688	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:306400	NCF2	4688	HP:0002240	Hepatomegaly
OMIM:306400	NCF2	4688	HP:0002741	Recurrent Serratia marcescens infections
OMIM:306400	NCF2	4688	HP:0001744	Splenomegaly
OMIM:306400	NCF2	4688	HP:0002716	Lymphadenopathy
OMIM:306400	NCF2	4688	HP:0003553	Cellulitis due to immunodeficiency
OMIM:306400	NCF2	4688	HP:0000976	Eczematoid dermatitis
OMIM:306400	NCF2	4688	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:306400	NCF4	4689	HP:0002742	Recurrent Klebsiella infections
OMIM:306400	NCF4	4689	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:306400	NCF4	4689	HP:0002955	Granulomatosis
OMIM:306400	NCF4	4689	HP:0002724	Recurrent Aspergillus infections
OMIM:306400	NCF4	4689	HP:0006532	Recurrent pneumonia
OMIM:306400	NCF4	4689	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:306400	NCF4	4689	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:306400	NCF4	4689	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:306400	NCF4	4689	HP:0002740	Recurrent E. coli infections
OMIM:306400	NCF4	4689	HP:0007417	Discoid lupus erythematosus
OMIM:306400	NCF4	4689	HP:0003621	Juvenile onset
OMIM:306400	NCF4	4689	HP:0002840	Lymphadenitis
OMIM:306400	NCF4	4689	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:306400	NCF4	4689	HP:0001419	X-linked recessive inheritance
OMIM:306400	NCF4	4689	HP:0003206	Decreased activity of NADPH oxidase
OMIM:306400	NCF4	4689	HP:0005406	Recurrent bacterial skin infections
OMIM:306400	NCF4	4689	HP:0005224	Rectal abscess
OMIM:306400	NCF4	4689	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:306400	NCF4	4689	HP:0002240	Hepatomegaly
OMIM:306400	NCF4	4689	HP:0002741	Recurrent Serratia marcescens infections
OMIM:306400	NCF4	4689	HP:0001744	Splenomegaly
OMIM:306400	NCF4	4689	HP:0002716	Lymphadenopathy
OMIM:306400	NCF4	4689	HP:0003553	Cellulitis due to immunodeficiency
OMIM:306400	NCF4	4689	HP:0000976	Eczematoid dermatitis
OMIM:306400	NCF4	4689	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:306400	NCF1	653361	HP:0002742	Recurrent Klebsiella infections
OMIM:306400	NCF1	653361	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:306400	NCF1	653361	HP:0002955	Granulomatosis
OMIM:306400	NCF1	653361	HP:0002724	Recurrent Aspergillus infections
OMIM:306400	NCF1	653361	HP:0006532	Recurrent pneumonia
OMIM:306400	NCF1	653361	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:306400	NCF1	653361	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:306400	NCF1	653361	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:306400	NCF1	653361	HP:0002740	Recurrent E. coli infections
OMIM:306400	NCF1	653361	HP:0007417	Discoid lupus erythematosus
OMIM:306400	NCF1	653361	HP:0003621	Juvenile onset
OMIM:306400	NCF1	653361	HP:0002840	Lymphadenitis
OMIM:306400	NCF1	653361	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:306400	NCF1	653361	HP:0001419	X-linked recessive inheritance
OMIM:306400	NCF1	653361	HP:0003206	Decreased activity of NADPH oxidase
OMIM:306400	NCF1	653361	HP:0005406	Recurrent bacterial skin infections
OMIM:306400	NCF1	653361	HP:0005224	Rectal abscess
OMIM:306400	NCF1	653361	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:306400	NCF1	653361	HP:0002240	Hepatomegaly
OMIM:306400	NCF1	653361	HP:0002741	Recurrent Serratia marcescens infections
OMIM:306400	NCF1	653361	HP:0001744	Splenomegaly
OMIM:306400	NCF1	653361	HP:0002716	Lymphadenopathy
OMIM:306400	NCF1	653361	HP:0003553	Cellulitis due to immunodeficiency
OMIM:306400	NCF1	653361	HP:0000976	Eczematoid dermatitis
OMIM:306400	NCF1	653361	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:306400	CYBA	1535	HP:0002742	Recurrent Klebsiella infections
OMIM:306400	CYBA	1535	HP:0002755	Osteomyelitis due to immunodeficiency
OMIM:306400	CYBA	1535	HP:0002955	Granulomatosis
OMIM:306400	CYBA	1535	HP:0002724	Recurrent Aspergillus infections
OMIM:306400	CYBA	1535	HP:0006532	Recurrent pneumonia
OMIM:306400	CYBA	1535	HP:0002723	Absence of bactericidal oxidative 'respiratory burst' in phagocytes
OMIM:306400	CYBA	1535	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:306400	CYBA	1535	HP:0003203	Negative nitroblue tetrazolium (NBT) reduction test
OMIM:306400	CYBA	1535	HP:0002740	Recurrent E. coli infections
OMIM:306400	CYBA	1535	HP:0007417	Discoid lupus erythematosus
OMIM:306400	CYBA	1535	HP:0003621	Juvenile onset
OMIM:306400	CYBA	1535	HP:0002840	Lymphadenitis
OMIM:306400	CYBA	1535	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:306400	CYBA	1535	HP:0001419	X-linked recessive inheritance
OMIM:306400	CYBA	1535	HP:0003206	Decreased activity of NADPH oxidase
OMIM:306400	CYBA	1535	HP:0005406	Recurrent bacterial skin infections
OMIM:306400	CYBA	1535	HP:0005224	Rectal abscess
OMIM:306400	CYBA	1535	HP:0001400	Hepatic abscesses due to immunodeficiency
OMIM:306400	CYBA	1535	HP:0002240	Hepatomegaly
OMIM:306400	CYBA	1535	HP:0002741	Recurrent Serratia marcescens infections
OMIM:306400	CYBA	1535	HP:0001744	Splenomegaly
OMIM:306400	CYBA	1535	HP:0002716	Lymphadenopathy
OMIM:306400	CYBA	1535	HP:0003553	Cellulitis due to immunodeficiency
OMIM:306400	CYBA	1535	HP:0000976	Eczematoid dermatitis
OMIM:306400	CYBA	1535	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:613710	SLC25A19	60386	HP:0002490	Increased CSF lactate
OMIM:613710	SLC25A19	60386	HP:0002355	Difficulty walking
OMIM:613710	SLC25A19	60386	HP:0003202	Skeletal muscle atrophy
OMIM:613710	SLC25A19	60386	HP:0001324	Muscle weakness
OMIM:613710	SLC25A19	60386	HP:0001254	Lethargy
OMIM:613710	SLC25A19	60386	HP:0001762	Talipes equinovarus
OMIM:613710	SLC25A19	60386	HP:0001271	Polyneuropathy
OMIM:613710	SLC25A19	60386	HP:0003477	Peripheral axonal neuropathy
OMIM:613710	SLC25A19	60386	HP:0005750	Contractures of the joints of the lower limbs
OMIM:613710	SLC25A19	60386	HP:0003470	Paralysis
OMIM:613710	SLC25A19	60386	HP:0001265	Hyporeflexia
OMIM:613710	SLC25A19	60386	HP:0000007	Autosomal recessive inheritance
OMIM:609180	MPDU1	9526	HP:0000962	Hyperkeratosis
OMIM:609180	MPDU1	9526	HP:0001276	Hypertonia
OMIM:609180	MPDU1	9526	HP:0001250	Seizures
OMIM:609180	MPDU1	9526	HP:0001263	Global developmental delay
OMIM:609180	MPDU1	9526	HP:0001344	Absent speech
OMIM:609180	MPDU1	9526	HP:0011968	Feeding difficulties
OMIM:609180	MPDU1	9526	HP:0000478	Abnormality of the eye
OMIM:609180	MPDU1	9526	HP:0002059	Cerebral atrophy
OMIM:609180	MPDU1	9526	HP:0000639	Nystagmus
OMIM:609180	MPDU1	9526	HP:0001508	Failure to thrive
OMIM:609180	MPDU1	9526	HP:0100543	Cognitive impairment
OMIM:609180	MPDU1	9526	HP:0001251	Ataxia
OMIM:609180	MPDU1	9526	HP:0001252	Muscular hypotonia
OMIM:609180	MPDU1	9526	HP:0000486	Strabismus
OMIM:609180	MPDU1	9526	HP:0000958	Dry skin
OMIM:609180	MPDU1	9526	HP:0040189	Scaling skin
OMIM:609180	MPDU1	9526	HP:0001371	Flexion contracture
OMIM:609180	MPDU1	9526	HP:0001019	Erythroderma
OMIM:609180	MPDU1	9526	HP:0000252	Microcephaly
OMIM:609180	MPDU1	9526	HP:0000648	Optic atrophy
OMIM:187600	FGFR3	2261	HP:0000956	Acanthosis nigricans
OMIM:187600	FGFR3	2261	HP:0002677	Small foramen magnum
OMIM:187600	FGFR3	2261	HP:0002983	Micromelia
OMIM:187600	FGFR3	2261	HP:0001252	Muscular hypotonia
OMIM:187600	FGFR3	2261	HP:0000774	Narrow chest
OMIM:187600	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:187600	FGFR3	2261	HP:0010880	Increased nuchal translucency
OMIM:187600	FGFR3	2261	HP:0003510	Severe short stature
OMIM:187600	FGFR3	2261	HP:0000256	Macrocephaly
OMIM:187600	FGFR3	2261	HP:0006487	Bowing of the long bones
OMIM:187600	FGFR3	2261	HP:0001561	Polyhydramnios
OMIM:187600	FGFR3	2261	HP:0004565	Severe platyspondyly
OMIM:187600	FGFR3	2261	HP:0002007	Frontal bossing
OMIM:187600	FGFR3	2261	HP:0000238	Hydrocephalus
OMIM:187600	FGFR3	2261	HP:0001171	Split hand
OMIM:187600	FGFR3	2261	HP:0001376	Limitation of joint mobility
OMIM:187600	FGFR3	2261	HP:0001156	Brachydactyly syndrome
OMIM:187600	FGFR3	2261	HP:0002119	Ventriculomegaly
OMIM:187600	FGFR3	2261	HP:0001558	Decreased fetal movement
OMIM:187600	FGFR3	2261	HP:0004322	Short stature
OMIM:187600	FGFR3	2261	HP:0002823	Abnormality of the femur
OMIM:187600	FGFR3	2261	HP:0000274	Small face
OMIM:187600	FGFR3	2261	HP:0000926	Platyspondyly
OMIM:187600	FGFR3	2261	HP:0002093	Respiratory insufficiency
OMIM:187600	FGFR3	2261	HP:0000272	Malar flattening
OMIM:187600	FGFR3	2261	HP:0000365	Hearing impairment
OMIM:187600	FGFR3	2261	HP:0000973	Cutis laxa
OMIM:187600	FGFR3	2261	HP:0100543	Cognitive impairment
OMIM:187600	FGFR3	2261	HP:0002269	Abnormality of neuronal migration
OMIM:187600	FGFR3	2261	HP:0003015	Flared metaphysis
OMIM:187600	FGFR3	2261	HP:0000520	Proptosis
OMIM:187600	FGFR3	2261	HP:0001250	Seizures
OMIM:187600	FGFR3	2261	HP:0002187	Intellectual disability, profound
OMIM:187600	FGFR3	2261	HP:0001631	Atria septal defect
OMIM:187600	FGFR3	2261	HP:0010306	Short thorax
OMIM:187600	FGFR3	2261	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:187600	FGFR3	2261	HP:0001263	Global developmental delay
OMIM:187600	FGFR3	2261	HP:0002652	Skeletal dysplasia
OMIM:187600	FGFR3	2261	HP:0001643	Patent ductus arteriosus
OMIM:187600	FGFR3	2261	HP:0003026	Short long bone
OMIM:187600	FGFR3	2261	HP:0000946	Hypoplastic ilia
OMIM:187600	FGFR3	2261	HP:0002808	Kyphosis
OMIM:187600	FGFR3	2261	HP:0005280	Depressed nasal bridge
OMIM:187600	FGFR3	2261	HP:0000773	Short ribs
OMIM:187600	FGFR3	2261	HP:0000077	Abnormality of the kidney
OMIM:187600	FGFR3	2261	HP:0003025	Metaphyseal irregularity
OMIM:187600	FGFR3	2261	HP:0002282	Heterotopia
OMIM:300952	COX7B	1349	HP:0001250	Seizures
OMIM:300952	COX7B	1349	HP:0001274	Agenesis of corpus callosum
OMIM:300952	COX7B	1349	HP:0001644	Dilated cardiomyopathy
OMIM:300952	COX7B	1349	HP:0001508	Failure to thrive
OMIM:300952	COX7B	1349	HP:0001663	Ventricular fibrillation
OMIM:300952	COX7B	1349	HP:0001695	Cardiac arrest
OMIM:300952	COX7B	1349	HP:0000486	Strabismus
OMIM:300952	COX7B	1349	HP:0004756	Ventricular tachycardia
OMIM:300952	COX7B	1349	HP:0000639	Nystagmus
OMIM:300952	COX7B	1349	HP:0000545	Myopia
OMIM:300952	COX7B	1349	HP:0008936	Muscular hypotonia of the trunk
OMIM:300952	NDUFB11	54539	HP:0001250	Seizures
OMIM:300952	NDUFB11	54539	HP:0001274	Agenesis of corpus callosum
OMIM:300952	NDUFB11	54539	HP:0001644	Dilated cardiomyopathy
OMIM:300952	NDUFB11	54539	HP:0001508	Failure to thrive
OMIM:300952	NDUFB11	54539	HP:0001663	Ventricular fibrillation
OMIM:300952	NDUFB11	54539	HP:0001695	Cardiac arrest
OMIM:300952	NDUFB11	54539	HP:0000486	Strabismus
OMIM:300952	NDUFB11	54539	HP:0004756	Ventricular tachycardia
OMIM:300952	NDUFB11	54539	HP:0000639	Nystagmus
OMIM:300952	NDUFB11	54539	HP:0000545	Myopia
OMIM:300952	NDUFB11	54539	HP:0008936	Muscular hypotonia of the trunk
OMIM:300952	HCCS	3052	HP:0001250	Seizures
OMIM:300952	HCCS	3052	HP:0001274	Agenesis of corpus callosum
OMIM:300952	HCCS	3052	HP:0001644	Dilated cardiomyopathy
OMIM:300952	HCCS	3052	HP:0001508	Failure to thrive
OMIM:300952	HCCS	3052	HP:0001663	Ventricular fibrillation
OMIM:300952	HCCS	3052	HP:0001695	Cardiac arrest
OMIM:300952	HCCS	3052	HP:0000486	Strabismus
OMIM:300952	HCCS	3052	HP:0004756	Ventricular tachycardia
OMIM:300952	HCCS	3052	HP:0000639	Nystagmus
OMIM:300952	HCCS	3052	HP:0000545	Myopia
OMIM:300952	HCCS	3052	HP:0008936	Muscular hypotonia of the trunk
OMIM:613660	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RLBP1	6017	HP:0000613	Photophobia
OMIM:613660	RLBP1	6017	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RLBP1	6017	HP:0000551	Abnormality of color vision
OMIM:613660	RLBP1	6017	HP:0000529	Progressive visual loss
OMIM:613660	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613660	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613660	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613660	SPATA7	55812	HP:0000613	Photophobia
OMIM:613660	SPATA7	55812	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	SPATA7	55812	HP:0000551	Abnormality of color vision
OMIM:613660	SPATA7	55812	HP:0000529	Progressive visual loss
OMIM:613660	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613660	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613660	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613660	ARL6	84100	HP:0000613	Photophobia
OMIM:613660	ARL6	84100	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	ARL6	84100	HP:0000551	Abnormality of color vision
OMIM:613660	ARL6	84100	HP:0000529	Progressive visual loss
OMIM:613660	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613660	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613660	UNC119	9094	HP:0000007	Autosomal recessive inheritance
OMIM:613660	UNC119	9094	HP:0000613	Photophobia
OMIM:613660	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	UNC119	9094	HP:0000551	Abnormality of color vision
OMIM:613660	UNC119	9094	HP:0000529	Progressive visual loss
OMIM:613660	UNC119	9094	HP:0000510	Rod-cone dystrophy
OMIM:613660	UNC119	9094	HP:0000662	Nyctalopia
OMIM:613660	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CERKL	375298	HP:0000613	Photophobia
OMIM:613660	CERKL	375298	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CERKL	375298	HP:0000551	Abnormality of color vision
OMIM:613660	CERKL	375298	HP:0000529	Progressive visual loss
OMIM:613660	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613660	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613660	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:613660	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RPGRIP1	57096	HP:0000551	Abnormality of color vision
OMIM:613660	RPGRIP1	57096	HP:0000529	Progressive visual loss
OMIM:613660	RPGRIP1	57096	HP:0000510	Rod-cone dystrophy
OMIM:613660	RPGRIP1	57096	HP:0000662	Nyctalopia
OMIM:613660	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PRPF31	26121	HP:0000613	Photophobia
OMIM:613660	PRPF31	26121	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PRPF31	26121	HP:0000551	Abnormality of color vision
OMIM:613660	PRPF31	26121	HP:0000529	Progressive visual loss
OMIM:613660	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613660	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613660	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613660	TTC8	123016	HP:0000613	Photophobia
OMIM:613660	TTC8	123016	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	TTC8	123016	HP:0000551	Abnormality of color vision
OMIM:613660	TTC8	123016	HP:0000529	Progressive visual loss
OMIM:613660	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613660	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613660	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PROM1	8842	HP:0000613	Photophobia
OMIM:613660	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PROM1	8842	HP:0000551	Abnormality of color vision
OMIM:613660	PROM1	8842	HP:0000529	Progressive visual loss
OMIM:613660	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613660	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613660	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CACNA1F	778	HP:0000613	Photophobia
OMIM:613660	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CACNA1F	778	HP:0000551	Abnormality of color vision
OMIM:613660	CACNA1F	778	HP:0000529	Progressive visual loss
OMIM:613660	CACNA1F	778	HP:0000510	Rod-cone dystrophy
OMIM:613660	CACNA1F	778	HP:0000662	Nyctalopia
OMIM:613660	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613660	LRAT	9227	HP:0000613	Photophobia
OMIM:613660	LRAT	9227	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	LRAT	9227	HP:0000551	Abnormality of color vision
OMIM:613660	LRAT	9227	HP:0000529	Progressive visual loss
OMIM:613660	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613660	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613660	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613660	IFT140	9742	HP:0000613	Photophobia
OMIM:613660	IFT140	9742	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	IFT140	9742	HP:0000551	Abnormality of color vision
OMIM:613660	IFT140	9742	HP:0000529	Progressive visual loss
OMIM:613660	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613660	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613660	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613660	BEST1	7439	HP:0000613	Photophobia
OMIM:613660	BEST1	7439	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	BEST1	7439	HP:0000551	Abnormality of color vision
OMIM:613660	BEST1	7439	HP:0000529	Progressive visual loss
OMIM:613660	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613660	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613660	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613660	NEK2	4751	HP:0000613	Photophobia
OMIM:613660	NEK2	4751	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	NEK2	4751	HP:0000551	Abnormality of color vision
OMIM:613660	NEK2	4751	HP:0000529	Progressive visual loss
OMIM:613660	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613660	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613660	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613660	ARL2BP	23568	HP:0000613	Photophobia
OMIM:613660	ARL2BP	23568	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	ARL2BP	23568	HP:0000551	Abnormality of color vision
OMIM:613660	ARL2BP	23568	HP:0000529	Progressive visual loss
OMIM:613660	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613660	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613660	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613660	NR2E3	10002	HP:0000613	Photophobia
OMIM:613660	NR2E3	10002	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	NR2E3	10002	HP:0000551	Abnormality of color vision
OMIM:613660	NR2E3	10002	HP:0000529	Progressive visual loss
OMIM:613660	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613660	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613660	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613660	EYS	346007	HP:0000613	Photophobia
OMIM:613660	EYS	346007	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	EYS	346007	HP:0000551	Abnormality of color vision
OMIM:613660	EYS	346007	HP:0000529	Progressive visual loss
OMIM:613660	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613660	EYS	346007	HP:0000662	Nyctalopia
OMIM:613660	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:613660	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CACNA2D4	93589	HP:0000551	Abnormality of color vision
OMIM:613660	CACNA2D4	93589	HP:0000529	Progressive visual loss
OMIM:613660	CACNA2D4	93589	HP:0000510	Rod-cone dystrophy
OMIM:613660	CACNA2D4	93589	HP:0000662	Nyctalopia
OMIM:613660	RAB28	9364	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RAB28	9364	HP:0000613	Photophobia
OMIM:613660	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RAB28	9364	HP:0000551	Abnormality of color vision
OMIM:613660	RAB28	9364	HP:0000529	Progressive visual loss
OMIM:613660	RAB28	9364	HP:0000510	Rod-cone dystrophy
OMIM:613660	RAB28	9364	HP:0000662	Nyctalopia
OMIM:613660	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613660	MAK	4117	HP:0000613	Photophobia
OMIM:613660	MAK	4117	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	MAK	4117	HP:0000551	Abnormality of color vision
OMIM:613660	MAK	4117	HP:0000529	Progressive visual loss
OMIM:613660	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613660	MAK	4117	HP:0000662	Nyctalopia
OMIM:613660	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613660	SAG	6295	HP:0000613	Photophobia
OMIM:613660	SAG	6295	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	SAG	6295	HP:0000551	Abnormality of color vision
OMIM:613660	SAG	6295	HP:0000529	Progressive visual loss
OMIM:613660	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613660	SAG	6295	HP:0000662	Nyctalopia
OMIM:613660	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613660	ABCA4	24	HP:0000613	Photophobia
OMIM:613660	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	ABCA4	24	HP:0000551	Abnormality of color vision
OMIM:613660	ABCA4	24	HP:0000529	Progressive visual loss
OMIM:613660	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613660	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613660	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PDE6A	5145	HP:0000613	Photophobia
OMIM:613660	PDE6A	5145	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PDE6A	5145	HP:0000551	Abnormality of color vision
OMIM:613660	PDE6A	5145	HP:0000529	Progressive visual loss
OMIM:613660	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613660	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613660	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PDE6G	5148	HP:0000613	Photophobia
OMIM:613660	PDE6G	5148	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PDE6G	5148	HP:0000551	Abnormality of color vision
OMIM:613660	PDE6G	5148	HP:0000529	Progressive visual loss
OMIM:613660	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613660	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613660	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613660	IMPDH1	3614	HP:0000613	Photophobia
OMIM:613660	IMPDH1	3614	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	IMPDH1	3614	HP:0000551	Abnormality of color vision
OMIM:613660	IMPDH1	3614	HP:0000529	Progressive visual loss
OMIM:613660	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613660	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613660	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613660	OFD1	8481	HP:0000613	Photophobia
OMIM:613660	OFD1	8481	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	OFD1	8481	HP:0000551	Abnormality of color vision
OMIM:613660	OFD1	8481	HP:0000529	Progressive visual loss
OMIM:613660	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613660	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613660	GUCA1A	2978	HP:0000007	Autosomal recessive inheritance
OMIM:613660	GUCA1A	2978	HP:0000613	Photophobia
OMIM:613660	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	GUCA1A	2978	HP:0000551	Abnormality of color vision
OMIM:613660	GUCA1A	2978	HP:0000529	Progressive visual loss
OMIM:613660	GUCA1A	2978	HP:0000510	Rod-cone dystrophy
OMIM:613660	GUCA1A	2978	HP:0000662	Nyctalopia
OMIM:613660	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613660	GUCA1B	2979	HP:0000613	Photophobia
OMIM:613660	GUCA1B	2979	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	GUCA1B	2979	HP:0000551	Abnormality of color vision
OMIM:613660	GUCA1B	2979	HP:0000529	Progressive visual loss
OMIM:613660	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613660	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613660	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613660	NRL	4901	HP:0000613	Photophobia
OMIM:613660	NRL	4901	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	NRL	4901	HP:0000551	Abnormality of color vision
OMIM:613660	NRL	4901	HP:0000529	Progressive visual loss
OMIM:613660	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613660	NRL	4901	HP:0000662	Nyctalopia
OMIM:613660	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PDE6B	5158	HP:0000613	Photophobia
OMIM:613660	PDE6B	5158	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PDE6B	5158	HP:0000551	Abnormality of color vision
OMIM:613660	PDE6B	5158	HP:0000529	Progressive visual loss
OMIM:613660	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613660	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613660	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613660	KLHL7	55975	HP:0000613	Photophobia
OMIM:613660	KLHL7	55975	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	KLHL7	55975	HP:0000551	Abnormality of color vision
OMIM:613660	KLHL7	55975	HP:0000529	Progressive visual loss
OMIM:613660	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613660	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613660	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PRPF4	9128	HP:0000613	Photophobia
OMIM:613660	PRPF4	9128	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PRPF4	9128	HP:0000551	Abnormality of color vision
OMIM:613660	PRPF4	9128	HP:0000529	Progressive visual loss
OMIM:613660	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613660	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613660	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PRPF3	9129	HP:0000613	Photophobia
OMIM:613660	PRPF3	9129	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PRPF3	9129	HP:0000551	Abnormality of color vision
OMIM:613660	PRPF3	9129	HP:0000529	Progressive visual loss
OMIM:613660	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613660	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613660	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613660	FAM161A	84140	HP:0000613	Photophobia
OMIM:613660	FAM161A	84140	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	FAM161A	84140	HP:0000551	Abnormality of color vision
OMIM:613660	FAM161A	84140	HP:0000529	Progressive visual loss
OMIM:613660	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613660	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613660	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613660	IFT172	26160	HP:0000613	Photophobia
OMIM:613660	IFT172	26160	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	IFT172	26160	HP:0000551	Abnormality of color vision
OMIM:613660	IFT172	26160	HP:0000529	Progressive visual loss
OMIM:613660	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613660	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613660	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613660	KIZ	55857	HP:0000613	Photophobia
OMIM:613660	KIZ	55857	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	KIZ	55857	HP:0000551	Abnormality of color vision
OMIM:613660	KIZ	55857	HP:0000529	Progressive visual loss
OMIM:613660	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613660	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613660	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CDHR1	92211	HP:0000613	Photophobia
OMIM:613660	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CDHR1	92211	HP:0000551	Abnormality of color vision
OMIM:613660	CDHR1	92211	HP:0000529	Progressive visual loss
OMIM:613660	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613660	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613660	ADAM9	8754	HP:0000007	Autosomal recessive inheritance
OMIM:613660	ADAM9	8754	HP:0000613	Photophobia
OMIM:613660	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	ADAM9	8754	HP:0000551	Abnormality of color vision
OMIM:613660	ADAM9	8754	HP:0000529	Progressive visual loss
OMIM:613660	ADAM9	8754	HP:0000510	Rod-cone dystrophy
OMIM:613660	ADAM9	8754	HP:0000662	Nyctalopia
OMIM:613660	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613660	ZNF408	79797	HP:0000613	Photophobia
OMIM:613660	ZNF408	79797	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	ZNF408	79797	HP:0000551	Abnormality of color vision
OMIM:613660	ZNF408	79797	HP:0000529	Progressive visual loss
OMIM:613660	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613660	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613660	TTLL5	23093	HP:0000007	Autosomal recessive inheritance
OMIM:613660	TTLL5	23093	HP:0000613	Photophobia
OMIM:613660	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	TTLL5	23093	HP:0000551	Abnormality of color vision
OMIM:613660	TTLL5	23093	HP:0000529	Progressive visual loss
OMIM:613660	TTLL5	23093	HP:0000510	Rod-cone dystrophy
OMIM:613660	TTLL5	23093	HP:0000662	Nyctalopia
OMIM:613660	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:613660	GUCY2D	3000	HP:0000613	Photophobia
OMIM:613660	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	GUCY2D	3000	HP:0000551	Abnormality of color vision
OMIM:613660	GUCY2D	3000	HP:0000529	Progressive visual loss
OMIM:613660	GUCY2D	3000	HP:0000510	Rod-cone dystrophy
OMIM:613660	GUCY2D	3000	HP:0000662	Nyctalopia
OMIM:613660	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RBP3	5949	HP:0000613	Photophobia
OMIM:613660	RBP3	5949	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RBP3	5949	HP:0000551	Abnormality of color vision
OMIM:613660	RBP3	5949	HP:0000529	Progressive visual loss
OMIM:613660	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613660	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613660	POC1B	282809	HP:0000007	Autosomal recessive inheritance
OMIM:613660	POC1B	282809	HP:0000613	Photophobia
OMIM:613660	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	POC1B	282809	HP:0000551	Abnormality of color vision
OMIM:613660	POC1B	282809	HP:0000529	Progressive visual loss
OMIM:613660	POC1B	282809	HP:0000510	Rod-cone dystrophy
OMIM:613660	POC1B	282809	HP:0000662	Nyctalopia
OMIM:613660	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613660	HGSNAT	138050	HP:0000613	Photophobia
OMIM:613660	HGSNAT	138050	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	HGSNAT	138050	HP:0000551	Abnormality of color vision
OMIM:613660	HGSNAT	138050	HP:0000529	Progressive visual loss
OMIM:613660	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613660	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613660	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613660	FSCN2	25794	HP:0000613	Photophobia
OMIM:613660	FSCN2	25794	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	FSCN2	25794	HP:0000551	Abnormality of color vision
OMIM:613660	FSCN2	25794	HP:0000529	Progressive visual loss
OMIM:613660	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613660	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613660	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:613660	AIPL1	23746	HP:0000613	Photophobia
OMIM:613660	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	AIPL1	23746	HP:0000551	Abnormality of color vision
OMIM:613660	AIPL1	23746	HP:0000529	Progressive visual loss
OMIM:613660	AIPL1	23746	HP:0000510	Rod-cone dystrophy
OMIM:613660	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:613660	PITPNM3	83394	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PITPNM3	83394	HP:0000613	Photophobia
OMIM:613660	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PITPNM3	83394	HP:0000551	Abnormality of color vision
OMIM:613660	PITPNM3	83394	HP:0000529	Progressive visual loss
OMIM:613660	PITPNM3	83394	HP:0000510	Rod-cone dystrophy
OMIM:613660	PITPNM3	83394	HP:0000662	Nyctalopia
OMIM:613660	OPN1LW	5956	HP:0000007	Autosomal recessive inheritance
OMIM:613660	OPN1LW	5956	HP:0000613	Photophobia
OMIM:613660	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	OPN1LW	5956	HP:0000551	Abnormality of color vision
OMIM:613660	OPN1LW	5956	HP:0000529	Progressive visual loss
OMIM:613660	OPN1LW	5956	HP:0000510	Rod-cone dystrophy
OMIM:613660	OPN1LW	5956	HP:0000662	Nyctalopia
OMIM:613660	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PRCD	768206	HP:0000613	Photophobia
OMIM:613660	PRCD	768206	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PRCD	768206	HP:0000551	Abnormality of color vision
OMIM:613660	PRCD	768206	HP:0000529	Progressive visual loss
OMIM:613660	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613660	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613660	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613660	BBS2	583	HP:0000613	Photophobia
OMIM:613660	BBS2	583	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	BBS2	583	HP:0000551	Abnormality of color vision
OMIM:613660	BBS2	583	HP:0000529	Progressive visual loss
OMIM:613660	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613660	BBS2	583	HP:0000662	Nyctalopia
OMIM:613660	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RDH12	145226	HP:0000613	Photophobia
OMIM:613660	RDH12	145226	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RDH12	145226	HP:0000551	Abnormality of color vision
OMIM:613660	RDH12	145226	HP:0000529	Progressive visual loss
OMIM:613660	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613660	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613660	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PRPH2	5961	HP:0000613	Photophobia
OMIM:613660	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PRPH2	5961	HP:0000551	Abnormality of color vision
OMIM:613660	PRPH2	5961	HP:0000529	Progressive visual loss
OMIM:613660	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613660	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613660	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613660	DHDDS	79947	HP:0000613	Photophobia
OMIM:613660	DHDDS	79947	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	DHDDS	79947	HP:0000551	Abnormality of color vision
OMIM:613660	DHDDS	79947	HP:0000529	Progressive visual loss
OMIM:613660	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613660	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613660	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613660	ROM1	6094	HP:0000613	Photophobia
OMIM:613660	ROM1	6094	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	ROM1	6094	HP:0000551	Abnormality of color vision
OMIM:613660	ROM1	6094	HP:0000529	Progressive visual loss
OMIM:613660	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613660	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613660	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613660	C2ORF71	388939	HP:0000613	Photophobia
OMIM:613660	C2ORF71	388939	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	C2ORF71	388939	HP:0000551	Abnormality of color vision
OMIM:613660	C2ORF71	388939	HP:0000529	Progressive visual loss
OMIM:613660	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613660	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613660	DRAM2	128338	HP:0000007	Autosomal recessive inheritance
OMIM:613660	DRAM2	128338	HP:0000613	Photophobia
OMIM:613660	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	DRAM2	128338	HP:0000551	Abnormality of color vision
OMIM:613660	DRAM2	128338	HP:0000529	Progressive visual loss
OMIM:613660	DRAM2	128338	HP:0000510	Rod-cone dystrophy
OMIM:613660	DRAM2	128338	HP:0000662	Nyctalopia
OMIM:613660	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RP9	6100	HP:0000613	Photophobia
OMIM:613660	RP9	6100	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RP9	6100	HP:0000551	Abnormality of color vision
OMIM:613660	RP9	6100	HP:0000529	Progressive visual loss
OMIM:613660	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613660	RP9	6100	HP:0000662	Nyctalopia
OMIM:613660	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PRPF6	24148	HP:0000613	Photophobia
OMIM:613660	PRPF6	24148	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PRPF6	24148	HP:0000551	Abnormality of color vision
OMIM:613660	PRPF6	24148	HP:0000529	Progressive visual loss
OMIM:613660	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613660	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613660	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RP1	6101	HP:0000613	Photophobia
OMIM:613660	RP1	6101	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RP1	6101	HP:0000551	Abnormality of color vision
OMIM:613660	RP1	6101	HP:0000529	Progressive visual loss
OMIM:613660	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613660	RP1	6101	HP:0000662	Nyctalopia
OMIM:613660	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RP2	6102	HP:0000613	Photophobia
OMIM:613660	RP2	6102	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RP2	6102	HP:0000551	Abnormality of color vision
OMIM:613660	RP2	6102	HP:0000529	Progressive visual loss
OMIM:613660	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613660	RP2	6102	HP:0000662	Nyctalopia
OMIM:613660	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RPGR	6103	HP:0000613	Photophobia
OMIM:613660	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RPGR	6103	HP:0000551	Abnormality of color vision
OMIM:613660	RPGR	6103	HP:0000529	Progressive visual loss
OMIM:613660	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613660	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613660	RIMS1	22999	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RIMS1	22999	HP:0000613	Photophobia
OMIM:613660	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RIMS1	22999	HP:0000551	Abnormality of color vision
OMIM:613660	RIMS1	22999	HP:0000529	Progressive visual loss
OMIM:613660	RIMS1	22999	HP:0000510	Rod-cone dystrophy
OMIM:613660	RIMS1	22999	HP:0000662	Nyctalopia
OMIM:613660	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613660	SEMA4A	64218	HP:0000613	Photophobia
OMIM:613660	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	SEMA4A	64218	HP:0000551	Abnormality of color vision
OMIM:613660	SEMA4A	64218	HP:0000529	Progressive visual loss
OMIM:613660	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613660	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613660	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613660	C8ORF37	157657	HP:0000613	Photophobia
OMIM:613660	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	C8ORF37	157657	HP:0000551	Abnormality of color vision
OMIM:613660	C8ORF37	157657	HP:0000529	Progressive visual loss
OMIM:613660	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613660	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613660	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613660	IDH3B	3420	HP:0000613	Photophobia
OMIM:613660	IDH3B	3420	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	IDH3B	3420	HP:0000551	Abnormality of color vision
OMIM:613660	IDH3B	3420	HP:0000529	Progressive visual loss
OMIM:613660	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613660	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613660	OPN1MW	2652	HP:0000007	Autosomal recessive inheritance
OMIM:613660	OPN1MW	2652	HP:0000613	Photophobia
OMIM:613660	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	OPN1MW	2652	HP:0000551	Abnormality of color vision
OMIM:613660	OPN1MW	2652	HP:0000529	Progressive visual loss
OMIM:613660	OPN1MW	2652	HP:0000510	Rod-cone dystrophy
OMIM:613660	OPN1MW	2652	HP:0000662	Nyctalopia
OMIM:613660	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613660	MERTK	10461	HP:0000613	Photophobia
OMIM:613660	MERTK	10461	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	MERTK	10461	HP:0000551	Abnormality of color vision
OMIM:613660	MERTK	10461	HP:0000529	Progressive visual loss
OMIM:613660	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613660	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613660	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613660	PRPF8	10594	HP:0000613	Photophobia
OMIM:613660	PRPF8	10594	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	PRPF8	10594	HP:0000551	Abnormality of color vision
OMIM:613660	PRPF8	10594	HP:0000529	Progressive visual loss
OMIM:613660	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613660	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613660	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613660	TOPORS	10210	HP:0000613	Photophobia
OMIM:613660	TOPORS	10210	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	TOPORS	10210	HP:0000551	Abnormality of color vision
OMIM:613660	TOPORS	10210	HP:0000529	Progressive visual loss
OMIM:613660	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613660	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613660	RAX2	84839	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RAX2	84839	HP:0000613	Photophobia
OMIM:613660	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RAX2	84839	HP:0000551	Abnormality of color vision
OMIM:613660	RAX2	84839	HP:0000529	Progressive visual loss
OMIM:613660	RAX2	84839	HP:0000510	Rod-cone dystrophy
OMIM:613660	RAX2	84839	HP:0000662	Nyctalopia
OMIM:613660	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613660	USH2A	7399	HP:0000613	Photophobia
OMIM:613660	USH2A	7399	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	USH2A	7399	HP:0000551	Abnormality of color vision
OMIM:613660	USH2A	7399	HP:0000529	Progressive visual loss
OMIM:613660	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613660	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613660	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RPE65	6121	HP:0000613	Photophobia
OMIM:613660	RPE65	6121	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RPE65	6121	HP:0000551	Abnormality of color vision
OMIM:613660	RPE65	6121	HP:0000529	Progressive visual loss
OMIM:613660	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613660	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613660	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CLRN1	7401	HP:0000613	Photophobia
OMIM:613660	CLRN1	7401	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CLRN1	7401	HP:0000551	Abnormality of color vision
OMIM:613660	CLRN1	7401	HP:0000529	Progressive visual loss
OMIM:613660	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613660	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613660	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CNGB1	1258	HP:0000613	Photophobia
OMIM:613660	CNGB1	1258	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CNGB1	1258	HP:0000551	Abnormality of color vision
OMIM:613660	CNGB1	1258	HP:0000529	Progressive visual loss
OMIM:613660	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613660	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613660	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RGR	5995	HP:0000613	Photophobia
OMIM:613660	RGR	5995	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RGR	5995	HP:0000551	Abnormality of color vision
OMIM:613660	RGR	5995	HP:0000529	Progressive visual loss
OMIM:613660	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613660	RGR	5995	HP:0000662	Nyctalopia
OMIM:613660	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CNGA1	1259	HP:0000613	Photophobia
OMIM:613660	CNGA1	1259	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CNGA1	1259	HP:0000551	Abnormality of color vision
OMIM:613660	CNGA1	1259	HP:0000529	Progressive visual loss
OMIM:613660	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613660	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613660	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613660	TUB	7275	HP:0000613	Photophobia
OMIM:613660	TUB	7275	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	TUB	7275	HP:0000551	Abnormality of color vision
OMIM:613660	TUB	7275	HP:0000529	Progressive visual loss
OMIM:613660	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613660	TUB	7275	HP:0000662	Nyctalopia
OMIM:613660	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613660	SNRNP200	23020	HP:0000613	Photophobia
OMIM:613660	SNRNP200	23020	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	SNRNP200	23020	HP:0000551	Abnormality of color vision
OMIM:613660	SNRNP200	23020	HP:0000529	Progressive visual loss
OMIM:613660	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613660	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613660	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613660	SLC7A14	57709	HP:0000613	Photophobia
OMIM:613660	SLC7A14	57709	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	SLC7A14	57709	HP:0000551	Abnormality of color vision
OMIM:613660	SLC7A14	57709	HP:0000529	Progressive visual loss
OMIM:613660	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613660	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613660	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CNGA3	1261	HP:0000613	Photophobia
OMIM:613660	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CNGA3	1261	HP:0000551	Abnormality of color vision
OMIM:613660	CNGA3	1261	HP:0000529	Progressive visual loss
OMIM:613660	CNGA3	1261	HP:0000510	Rod-cone dystrophy
OMIM:613660	CNGA3	1261	HP:0000662	Nyctalopia
OMIM:613660	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613660	TULP1	7287	HP:0000613	Photophobia
OMIM:613660	TULP1	7287	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	TULP1	7287	HP:0000551	Abnormality of color vision
OMIM:613660	TULP1	7287	HP:0000529	Progressive visual loss
OMIM:613660	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613660	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613660	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613660	RHO	6010	HP:0000613	Photophobia
OMIM:613660	RHO	6010	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	RHO	6010	HP:0000551	Abnormality of color vision
OMIM:613660	RHO	6010	HP:0000529	Progressive visual loss
OMIM:613660	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613660	RHO	6010	HP:0000662	Nyctalopia
OMIM:613660	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CA4	762	HP:0000613	Photophobia
OMIM:613660	CA4	762	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CA4	762	HP:0000551	Abnormality of color vision
OMIM:613660	CA4	762	HP:0000529	Progressive visual loss
OMIM:613660	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613660	CA4	762	HP:0000662	Nyctalopia
OMIM:613660	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CRB1	23418	HP:0000613	Photophobia
OMIM:613660	CRB1	23418	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CRB1	23418	HP:0000551	Abnormality of color vision
OMIM:613660	CRB1	23418	HP:0000529	Progressive visual loss
OMIM:613660	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613660	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613660	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613660	IMPG2	50939	HP:0000613	Photophobia
OMIM:613660	IMPG2	50939	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	IMPG2	50939	HP:0000551	Abnormality of color vision
OMIM:613660	IMPG2	50939	HP:0000529	Progressive visual loss
OMIM:613660	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613660	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613660	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613660	ZNF513	130557	HP:0000613	Photophobia
OMIM:613660	ZNF513	130557	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	ZNF513	130557	HP:0000551	Abnormality of color vision
OMIM:613660	ZNF513	130557	HP:0000529	Progressive visual loss
OMIM:613660	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613660	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613660	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613660	CRX	1406	HP:0000613	Photophobia
OMIM:613660	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:613660	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:613660	CRX	1406	HP:0000529	Progressive visual loss
OMIM:613660	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613660	CRX	1406	HP:0000662	Nyctalopia
OMIM:115197	MYBPC3	4607	HP:0001639	Hypertrophic cardiomyopathy
OMIM:115197	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:608540	ALG1	56052	HP:0001638	Cardiomyopathy
OMIM:608540	ALG1	56052	HP:0000112	Nephropathy
OMIM:608540	ALG1	56052	HP:0000233	Thin vermilion border
OMIM:608540	ALG1	56052	HP:0001399	Hepatic failure
OMIM:608540	ALG1	56052	HP:0000078	Abnormality of the genital system
OMIM:608540	ALG1	56052	HP:0001250	Seizures
OMIM:608540	ALG1	56052	HP:0002059	Cerebral atrophy
OMIM:608540	ALG1	56052	HP:0000135	Hypogonadism
OMIM:608540	ALG1	56052	HP:0001252	Muscular hypotonia
OMIM:608540	ALG1	56052	HP:0001639	Hypertrophic cardiomyopathy
OMIM:608540	ALG1	56052	HP:0001560	Abnormality of the amniotic fluid
OMIM:608540	ALG1	56052	HP:0000239	Large fontanelles
OMIM:608540	ALG1	56052	HP:0100543	Cognitive impairment
OMIM:608540	ALG1	56052	HP:0000347	Micrognathia
OMIM:608540	ALG1	56052	HP:0000252	Microcephaly
OMIM:608540	ALG1	56052	HP:0010978	Abnormality of immune system physiology
OMIM:608540	ALG1	56052	HP:0002240	Hepatomegaly
OMIM:608540	ALG1	56052	HP:0000316	Hypertelorism
OMIM:608540	ALG1	56052	HP:0001744	Splenomegaly
OMIM:608540	ALG1	56052	HP:0001371	Flexion contracture
OMIM:608540	ALG1	56052	HP:0001284	Areflexia
OMIM:608540	ALG1	56052	HP:0001263	Global developmental delay
OMIM:608540	ALG1	56052	HP:0001511	Intrauterine growth retardation
OMIM:608540	ALG1	56052	HP:0000007	Autosomal recessive inheritance
OMIM:608540	ALG1	56052	HP:0001522	Death in infancy
OMIM:612018	SLC16A12	387700	HP:0000006	Autosomal dominant inheritance
OMIM:612018	SLC16A12	387700	HP:0000482	Microcornea
OMIM:612018	SLC16A12	387700	HP:0000518	Cataract
OMIM:615993	MKKS	8195	HP:0000403	Recurrent otitis media
OMIM:615993	MKKS	8195	HP:0000510	Rod-cone dystrophy
OMIM:615993	MKKS	8195	HP:0001263	Global developmental delay
OMIM:615993	MKKS	8195	HP:0003241	External genital hypoplasia
OMIM:615993	MKKS	8195	HP:0100543	Cognitive impairment
OMIM:615993	MKKS	8195	HP:0002098	Respiratory distress
OMIM:615993	MKKS	8195	HP:0001513	Obesity
OMIM:615993	MKKS	8195	HP:0000110	Renal dysplasia
OMIM:615993	MKKS	8195	HP:0000546	Retinal degeneration
OMIM:615993	MKKS	8195	HP:0000104	Renal agenesis
OMIM:615993	MKKS	8195	HP:0000083	Renal insufficiency
OMIM:615993	MKKS	8195	HP:0000107	Renal cyst
OMIM:615993	MKKS	8195	HP:0000135	Hypogonadism
OMIM:615993	MKKS	8195	HP:0002205	Recurrent respiratory infections
OMIM:615993	MKKS	8195	HP:0001249	Intellectual disability
OMIM:615993	NPHP1	4867	HP:0000403	Recurrent otitis media
OMIM:615993	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:615993	NPHP1	4867	HP:0001263	Global developmental delay
OMIM:615993	NPHP1	4867	HP:0003241	External genital hypoplasia
OMIM:615993	NPHP1	4867	HP:0100543	Cognitive impairment
OMIM:615993	NPHP1	4867	HP:0002098	Respiratory distress
OMIM:615993	NPHP1	4867	HP:0001513	Obesity
OMIM:615993	NPHP1	4867	HP:0000110	Renal dysplasia
OMIM:615993	NPHP1	4867	HP:0000546	Retinal degeneration
OMIM:615993	NPHP1	4867	HP:0000104	Renal agenesis
OMIM:615993	NPHP1	4867	HP:0000083	Renal insufficiency
OMIM:615993	NPHP1	4867	HP:0000107	Renal cyst
OMIM:615993	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:615993	NPHP1	4867	HP:0002205	Recurrent respiratory infections
OMIM:615993	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:615993	BBIP1	92482	HP:0000403	Recurrent otitis media
OMIM:615993	BBIP1	92482	HP:0000510	Rod-cone dystrophy
OMIM:615993	BBIP1	92482	HP:0001263	Global developmental delay
OMIM:615993	BBIP1	92482	HP:0003241	External genital hypoplasia
OMIM:615993	BBIP1	92482	HP:0100543	Cognitive impairment
OMIM:615993	BBIP1	92482	HP:0002098	Respiratory distress
OMIM:615993	BBIP1	92482	HP:0001513	Obesity
OMIM:615993	BBIP1	92482	HP:0000110	Renal dysplasia
OMIM:615993	BBIP1	92482	HP:0000546	Retinal degeneration
OMIM:615993	BBIP1	92482	HP:0000104	Renal agenesis
OMIM:615993	BBIP1	92482	HP:0000083	Renal insufficiency
OMIM:615993	BBIP1	92482	HP:0000107	Renal cyst
OMIM:615993	BBIP1	92482	HP:0000135	Hypogonadism
OMIM:615993	BBIP1	92482	HP:0002205	Recurrent respiratory infections
OMIM:615993	BBIP1	92482	HP:0001249	Intellectual disability
OMIM:615993	ARL6	84100	HP:0000403	Recurrent otitis media
OMIM:615993	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615993	ARL6	84100	HP:0001263	Global developmental delay
OMIM:615993	ARL6	84100	HP:0003241	External genital hypoplasia
OMIM:615993	ARL6	84100	HP:0100543	Cognitive impairment
OMIM:615993	ARL6	84100	HP:0002098	Respiratory distress
OMIM:615993	ARL6	84100	HP:0001513	Obesity
OMIM:615993	ARL6	84100	HP:0000110	Renal dysplasia
OMIM:615993	ARL6	84100	HP:0000546	Retinal degeneration
OMIM:615993	ARL6	84100	HP:0000104	Renal agenesis
OMIM:615993	ARL6	84100	HP:0000083	Renal insufficiency
OMIM:615993	ARL6	84100	HP:0000107	Renal cyst
OMIM:615993	ARL6	84100	HP:0000135	Hypogonadism
OMIM:615993	ARL6	84100	HP:0002205	Recurrent respiratory infections
OMIM:615993	ARL6	84100	HP:0001249	Intellectual disability
OMIM:615993	BBS1	582	HP:0000403	Recurrent otitis media
OMIM:615993	BBS1	582	HP:0000510	Rod-cone dystrophy
OMIM:615993	BBS1	582	HP:0001263	Global developmental delay
OMIM:615993	BBS1	582	HP:0003241	External genital hypoplasia
OMIM:615993	BBS1	582	HP:0100543	Cognitive impairment
OMIM:615993	BBS1	582	HP:0002098	Respiratory distress
OMIM:615993	BBS1	582	HP:0001513	Obesity
OMIM:615993	BBS1	582	HP:0000110	Renal dysplasia
OMIM:615993	BBS1	582	HP:0000546	Retinal degeneration
OMIM:615993	BBS1	582	HP:0000104	Renal agenesis
OMIM:615993	BBS1	582	HP:0000083	Renal insufficiency
OMIM:615993	BBS1	582	HP:0000107	Renal cyst
OMIM:615993	BBS1	582	HP:0000135	Hypogonadism
OMIM:615993	BBS1	582	HP:0002205	Recurrent respiratory infections
OMIM:615993	BBS1	582	HP:0001249	Intellectual disability
OMIM:615993	BBS2	583	HP:0000403	Recurrent otitis media
OMIM:615993	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615993	BBS2	583	HP:0001263	Global developmental delay
OMIM:615993	BBS2	583	HP:0003241	External genital hypoplasia
OMIM:615993	BBS2	583	HP:0100543	Cognitive impairment
OMIM:615993	BBS2	583	HP:0002098	Respiratory distress
OMIM:615993	BBS2	583	HP:0001513	Obesity
OMIM:615993	BBS2	583	HP:0000110	Renal dysplasia
OMIM:615993	BBS2	583	HP:0000546	Retinal degeneration
OMIM:615993	BBS2	583	HP:0000104	Renal agenesis
OMIM:615993	BBS2	583	HP:0000083	Renal insufficiency
OMIM:615993	BBS2	583	HP:0000107	Renal cyst
OMIM:615993	BBS2	583	HP:0000135	Hypogonadism
OMIM:615993	BBS2	583	HP:0002205	Recurrent respiratory infections
OMIM:615993	BBS2	583	HP:0001249	Intellectual disability
OMIM:615993	BBS4	585	HP:0000403	Recurrent otitis media
OMIM:615993	BBS4	585	HP:0000510	Rod-cone dystrophy
OMIM:615993	BBS4	585	HP:0001263	Global developmental delay
OMIM:615993	BBS4	585	HP:0003241	External genital hypoplasia
OMIM:615993	BBS4	585	HP:0100543	Cognitive impairment
OMIM:615993	BBS4	585	HP:0002098	Respiratory distress
OMIM:615993	BBS4	585	HP:0001513	Obesity
OMIM:615993	BBS4	585	HP:0000110	Renal dysplasia
OMIM:615993	BBS4	585	HP:0000546	Retinal degeneration
OMIM:615993	BBS4	585	HP:0000104	Renal agenesis
OMIM:615993	BBS4	585	HP:0000083	Renal insufficiency
OMIM:615993	BBS4	585	HP:0000107	Renal cyst
OMIM:615993	BBS4	585	HP:0000135	Hypogonadism
OMIM:615993	BBS4	585	HP:0002205	Recurrent respiratory infections
OMIM:615993	BBS4	585	HP:0001249	Intellectual disability
OMIM:615993	BBS9	27241	HP:0000403	Recurrent otitis media
OMIM:615993	BBS9	27241	HP:0000510	Rod-cone dystrophy
OMIM:615993	BBS9	27241	HP:0001263	Global developmental delay
OMIM:615993	BBS9	27241	HP:0003241	External genital hypoplasia
OMIM:615993	BBS9	27241	HP:0100543	Cognitive impairment
OMIM:615993	BBS9	27241	HP:0002098	Respiratory distress
OMIM:615993	BBS9	27241	HP:0001513	Obesity
OMIM:615993	BBS9	27241	HP:0000110	Renal dysplasia
OMIM:615993	BBS9	27241	HP:0000546	Retinal degeneration
OMIM:615993	BBS9	27241	HP:0000104	Renal agenesis
OMIM:615993	BBS9	27241	HP:0000083	Renal insufficiency
OMIM:615993	BBS9	27241	HP:0000107	Renal cyst
OMIM:615993	BBS9	27241	HP:0000135	Hypogonadism
OMIM:615993	BBS9	27241	HP:0002205	Recurrent respiratory infections
OMIM:615993	BBS9	27241	HP:0001249	Intellectual disability
OMIM:615993	TTC8	123016	HP:0000403	Recurrent otitis media
OMIM:615993	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615993	TTC8	123016	HP:0001263	Global developmental delay
OMIM:615993	TTC8	123016	HP:0003241	External genital hypoplasia
OMIM:615993	TTC8	123016	HP:0100543	Cognitive impairment
OMIM:615993	TTC8	123016	HP:0002098	Respiratory distress
OMIM:615993	TTC8	123016	HP:0001513	Obesity
OMIM:615993	TTC8	123016	HP:0000110	Renal dysplasia
OMIM:615993	TTC8	123016	HP:0000546	Retinal degeneration
OMIM:615993	TTC8	123016	HP:0000104	Renal agenesis
OMIM:615993	TTC8	123016	HP:0000083	Renal insufficiency
OMIM:615993	TTC8	123016	HP:0000107	Renal cyst
OMIM:615993	TTC8	123016	HP:0000135	Hypogonadism
OMIM:615993	TTC8	123016	HP:0002205	Recurrent respiratory infections
OMIM:615993	TTC8	123016	HP:0001249	Intellectual disability
OMIM:615993	BBS12	166379	HP:0000403	Recurrent otitis media
OMIM:615993	BBS12	166379	HP:0000510	Rod-cone dystrophy
OMIM:615993	BBS12	166379	HP:0001263	Global developmental delay
OMIM:615993	BBS12	166379	HP:0003241	External genital hypoplasia
OMIM:615993	BBS12	166379	HP:0100543	Cognitive impairment
OMIM:615993	BBS12	166379	HP:0002098	Respiratory distress
OMIM:615993	BBS12	166379	HP:0001513	Obesity
OMIM:615993	BBS12	166379	HP:0000110	Renal dysplasia
OMIM:615993	BBS12	166379	HP:0000546	Retinal degeneration
OMIM:615993	BBS12	166379	HP:0000104	Renal agenesis
OMIM:615993	BBS12	166379	HP:0000083	Renal insufficiency
OMIM:615993	BBS12	166379	HP:0000107	Renal cyst
OMIM:615993	BBS12	166379	HP:0000135	Hypogonadism
OMIM:615993	BBS12	166379	HP:0002205	Recurrent respiratory infections
OMIM:615993	BBS12	166379	HP:0001249	Intellectual disability
OMIM:615993	TRIM32	22954	HP:0000403	Recurrent otitis media
OMIM:615993	TRIM32	22954	HP:0000510	Rod-cone dystrophy
OMIM:615993	TRIM32	22954	HP:0001263	Global developmental delay
OMIM:615993	TRIM32	22954	HP:0003241	External genital hypoplasia
OMIM:615993	TRIM32	22954	HP:0100543	Cognitive impairment
OMIM:615993	TRIM32	22954	HP:0002098	Respiratory distress
OMIM:615993	TRIM32	22954	HP:0001513	Obesity
OMIM:615993	TRIM32	22954	HP:0000110	Renal dysplasia
OMIM:615993	TRIM32	22954	HP:0000546	Retinal degeneration
OMIM:615993	TRIM32	22954	HP:0000104	Renal agenesis
OMIM:615993	TRIM32	22954	HP:0000083	Renal insufficiency
OMIM:615993	TRIM32	22954	HP:0000107	Renal cyst
OMIM:615993	TRIM32	22954	HP:0000135	Hypogonadism
OMIM:615993	TRIM32	22954	HP:0002205	Recurrent respiratory infections
OMIM:615993	TRIM32	22954	HP:0001249	Intellectual disability
OMIM:615993	BBS7	55212	HP:0000403	Recurrent otitis media
OMIM:615993	BBS7	55212	HP:0000510	Rod-cone dystrophy
OMIM:615993	BBS7	55212	HP:0001263	Global developmental delay
OMIM:615993	BBS7	55212	HP:0003241	External genital hypoplasia
OMIM:615993	BBS7	55212	HP:0100543	Cognitive impairment
OMIM:615993	BBS7	55212	HP:0002098	Respiratory distress
OMIM:615993	BBS7	55212	HP:0001513	Obesity
OMIM:615993	BBS7	55212	HP:0000110	Renal dysplasia
OMIM:615993	BBS7	55212	HP:0000546	Retinal degeneration
OMIM:615993	BBS7	55212	HP:0000104	Renal agenesis
OMIM:615993	BBS7	55212	HP:0000083	Renal insufficiency
OMIM:615993	BBS7	55212	HP:0000107	Renal cyst
OMIM:615993	BBS7	55212	HP:0000135	Hypogonadism
OMIM:615993	BBS7	55212	HP:0002205	Recurrent respiratory infections
OMIM:615993	BBS7	55212	HP:0001249	Intellectual disability
OMIM:615993	IFT27	11020	HP:0000403	Recurrent otitis media
OMIM:615993	IFT27	11020	HP:0000510	Rod-cone dystrophy
OMIM:615993	IFT27	11020	HP:0001263	Global developmental delay
OMIM:615993	IFT27	11020	HP:0003241	External genital hypoplasia
OMIM:615993	IFT27	11020	HP:0100543	Cognitive impairment
OMIM:615993	IFT27	11020	HP:0002098	Respiratory distress
OMIM:615993	IFT27	11020	HP:0001513	Obesity
OMIM:615993	IFT27	11020	HP:0000110	Renal dysplasia
OMIM:615993	IFT27	11020	HP:0000546	Retinal degeneration
OMIM:615993	IFT27	11020	HP:0000104	Renal agenesis
OMIM:615993	IFT27	11020	HP:0000083	Renal insufficiency
OMIM:615993	IFT27	11020	HP:0000107	Renal cyst
OMIM:615993	IFT27	11020	HP:0000135	Hypogonadism
OMIM:615993	IFT27	11020	HP:0002205	Recurrent respiratory infections
OMIM:615993	IFT27	11020	HP:0001249	Intellectual disability
OMIM:615993	IFT172	26160	HP:0000403	Recurrent otitis media
OMIM:615993	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615993	IFT172	26160	HP:0001263	Global developmental delay
OMIM:615993	IFT172	26160	HP:0003241	External genital hypoplasia
OMIM:615993	IFT172	26160	HP:0100543	Cognitive impairment
OMIM:615993	IFT172	26160	HP:0002098	Respiratory distress
OMIM:615993	IFT172	26160	HP:0001513	Obesity
OMIM:615993	IFT172	26160	HP:0000110	Renal dysplasia
OMIM:615993	IFT172	26160	HP:0000546	Retinal degeneration
OMIM:615993	IFT172	26160	HP:0000104	Renal agenesis
OMIM:615993	IFT172	26160	HP:0000083	Renal insufficiency
OMIM:615993	IFT172	26160	HP:0000107	Renal cyst
OMIM:615993	IFT172	26160	HP:0000135	Hypogonadism
OMIM:615993	IFT172	26160	HP:0002205	Recurrent respiratory infections
OMIM:615993	IFT172	26160	HP:0001249	Intellectual disability
OMIM:615993	WDPCP	51057	HP:0000403	Recurrent otitis media
OMIM:615993	WDPCP	51057	HP:0000510	Rod-cone dystrophy
OMIM:615993	WDPCP	51057	HP:0001263	Global developmental delay
OMIM:615993	WDPCP	51057	HP:0003241	External genital hypoplasia
OMIM:615993	WDPCP	51057	HP:0100543	Cognitive impairment
OMIM:615993	WDPCP	51057	HP:0002098	Respiratory distress
OMIM:615993	WDPCP	51057	HP:0001513	Obesity
OMIM:615993	WDPCP	51057	HP:0000110	Renal dysplasia
OMIM:615993	WDPCP	51057	HP:0000546	Retinal degeneration
OMIM:615993	WDPCP	51057	HP:0000104	Renal agenesis
OMIM:615993	WDPCP	51057	HP:0000083	Renal insufficiency
OMIM:615993	WDPCP	51057	HP:0000107	Renal cyst
OMIM:615993	WDPCP	51057	HP:0000135	Hypogonadism
OMIM:615993	WDPCP	51057	HP:0002205	Recurrent respiratory infections
OMIM:615993	WDPCP	51057	HP:0001249	Intellectual disability
OMIM:615993	SDCCAG8	10806	HP:0000403	Recurrent otitis media
OMIM:615993	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:615993	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:615993	SDCCAG8	10806	HP:0003241	External genital hypoplasia
OMIM:615993	SDCCAG8	10806	HP:0100543	Cognitive impairment
OMIM:615993	SDCCAG8	10806	HP:0002098	Respiratory distress
OMIM:615993	SDCCAG8	10806	HP:0001513	Obesity
OMIM:615993	SDCCAG8	10806	HP:0000110	Renal dysplasia
OMIM:615993	SDCCAG8	10806	HP:0000546	Retinal degeneration
OMIM:615993	SDCCAG8	10806	HP:0000104	Renal agenesis
OMIM:615993	SDCCAG8	10806	HP:0000083	Renal insufficiency
OMIM:615993	SDCCAG8	10806	HP:0000107	Renal cyst
OMIM:615993	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:615993	SDCCAG8	10806	HP:0002205	Recurrent respiratory infections
OMIM:615993	SDCCAG8	10806	HP:0001249	Intellectual disability
OMIM:615993	MKS1	54903	HP:0000403	Recurrent otitis media
OMIM:615993	MKS1	54903	HP:0000510	Rod-cone dystrophy
OMIM:615993	MKS1	54903	HP:0001263	Global developmental delay
OMIM:615993	MKS1	54903	HP:0003241	External genital hypoplasia
OMIM:615993	MKS1	54903	HP:0100543	Cognitive impairment
OMIM:615993	MKS1	54903	HP:0002098	Respiratory distress
OMIM:615993	MKS1	54903	HP:0001513	Obesity
OMIM:615993	MKS1	54903	HP:0000110	Renal dysplasia
OMIM:615993	MKS1	54903	HP:0000546	Retinal degeneration
OMIM:615993	MKS1	54903	HP:0000104	Renal agenesis
OMIM:615993	MKS1	54903	HP:0000083	Renal insufficiency
OMIM:615993	MKS1	54903	HP:0000107	Renal cyst
OMIM:615993	MKS1	54903	HP:0000135	Hypogonadism
OMIM:615993	MKS1	54903	HP:0002205	Recurrent respiratory infections
OMIM:615993	MKS1	54903	HP:0001249	Intellectual disability
OMIM:615993	BBS5	129880	HP:0000403	Recurrent otitis media
OMIM:615993	BBS5	129880	HP:0000510	Rod-cone dystrophy
OMIM:615993	BBS5	129880	HP:0001263	Global developmental delay
OMIM:615993	BBS5	129880	HP:0003241	External genital hypoplasia
OMIM:615993	BBS5	129880	HP:0100543	Cognitive impairment
OMIM:615993	BBS5	129880	HP:0002098	Respiratory distress
OMIM:615993	BBS5	129880	HP:0001513	Obesity
OMIM:615993	BBS5	129880	HP:0000110	Renal dysplasia
OMIM:615993	BBS5	129880	HP:0000546	Retinal degeneration
OMIM:615993	BBS5	129880	HP:0000104	Renal agenesis
OMIM:615993	BBS5	129880	HP:0000083	Renal insufficiency
OMIM:615993	BBS5	129880	HP:0000107	Renal cyst
OMIM:615993	BBS5	129880	HP:0000135	Hypogonadism
OMIM:615993	BBS5	129880	HP:0002205	Recurrent respiratory infections
OMIM:615993	BBS5	129880	HP:0001249	Intellectual disability
OMIM:615993	CEP290	80184	HP:0000403	Recurrent otitis media
OMIM:615993	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:615993	CEP290	80184	HP:0001263	Global developmental delay
OMIM:615993	CEP290	80184	HP:0003241	External genital hypoplasia
OMIM:615993	CEP290	80184	HP:0100543	Cognitive impairment
OMIM:615993	CEP290	80184	HP:0002098	Respiratory distress
OMIM:615993	CEP290	80184	HP:0001513	Obesity
OMIM:615993	CEP290	80184	HP:0000110	Renal dysplasia
OMIM:615993	CEP290	80184	HP:0000546	Retinal degeneration
OMIM:615993	CEP290	80184	HP:0000104	Renal agenesis
OMIM:615993	CEP290	80184	HP:0000083	Renal insufficiency
OMIM:615993	CEP290	80184	HP:0000107	Renal cyst
OMIM:615993	CEP290	80184	HP:0000135	Hypogonadism
OMIM:615993	CEP290	80184	HP:0002205	Recurrent respiratory infections
OMIM:615993	CEP290	80184	HP:0001249	Intellectual disability
OMIM:615993	LZTFL1	54585	HP:0000403	Recurrent otitis media
OMIM:615993	LZTFL1	54585	HP:0000510	Rod-cone dystrophy
OMIM:615993	LZTFL1	54585	HP:0001263	Global developmental delay
OMIM:615993	LZTFL1	54585	HP:0003241	External genital hypoplasia
OMIM:615993	LZTFL1	54585	HP:0100543	Cognitive impairment
OMIM:615993	LZTFL1	54585	HP:0002098	Respiratory distress
OMIM:615993	LZTFL1	54585	HP:0001513	Obesity
OMIM:615993	LZTFL1	54585	HP:0000110	Renal dysplasia
OMIM:615993	LZTFL1	54585	HP:0000546	Retinal degeneration
OMIM:615993	LZTFL1	54585	HP:0000104	Renal agenesis
OMIM:615993	LZTFL1	54585	HP:0000083	Renal insufficiency
OMIM:615993	LZTFL1	54585	HP:0000107	Renal cyst
OMIM:615993	LZTFL1	54585	HP:0000135	Hypogonadism
OMIM:615993	LZTFL1	54585	HP:0002205	Recurrent respiratory infections
OMIM:615993	LZTFL1	54585	HP:0001249	Intellectual disability
OMIM:615993	BBS10	79738	HP:0000403	Recurrent otitis media
OMIM:615993	BBS10	79738	HP:0000510	Rod-cone dystrophy
OMIM:615993	BBS10	79738	HP:0001263	Global developmental delay
OMIM:615993	BBS10	79738	HP:0003241	External genital hypoplasia
OMIM:615993	BBS10	79738	HP:0100543	Cognitive impairment
OMIM:615993	BBS10	79738	HP:0002098	Respiratory distress
OMIM:615993	BBS10	79738	HP:0001513	Obesity
OMIM:615993	BBS10	79738	HP:0000110	Renal dysplasia
OMIM:615993	BBS10	79738	HP:0000546	Retinal degeneration
OMIM:615993	BBS10	79738	HP:0000104	Renal agenesis
OMIM:615993	BBS10	79738	HP:0000083	Renal insufficiency
OMIM:615993	BBS10	79738	HP:0000107	Renal cyst
OMIM:615993	BBS10	79738	HP:0000135	Hypogonadism
OMIM:615993	BBS10	79738	HP:0002205	Recurrent respiratory infections
OMIM:615993	BBS10	79738	HP:0001249	Intellectual disability
OMIM:147250	SIX3	6496	HP:0003422	Vertebral segmentation defect
OMIM:147250	SIX3	6496	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	SIX3	6496	HP:0000821	Hypothyroidism
OMIM:147250	SIX3	6496	HP:0000062	Ambiguous genitalia
OMIM:147250	SIX3	6496	HP:0000589	Coloboma
OMIM:147250	SIX3	6496	HP:0000175	Cleft palate
OMIM:147250	SIX3	6496	HP:0000006	Autosomal dominant inheritance
OMIM:147250	SIX3	6496	HP:0010804	Tented upper lip vermilion
OMIM:147250	SIX3	6496	HP:0000528	Anophthalmia
OMIM:147250	SIX3	6496	HP:0009914	Cyclopia
OMIM:147250	SIX3	6496	HP:0000252	Microcephaly
OMIM:147250	SIX3	6496	HP:0002650	Scoliosis
OMIM:147250	SIX3	6496	HP:0004322	Short stature
OMIM:147250	SIX3	6496	HP:0008736	Hypoplasia of penis
OMIM:147250	SIX3	6496	HP:0000446	Narrow nasal bridge
OMIM:147250	SIX3	6496	HP:0001256	Intellectual disability, mild
OMIM:147250	SIX3	6496	HP:0000322	Short philtrum
OMIM:147250	SIX3	6496	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	SIX3	6496	HP:0000204	Cleft upper lip
OMIM:147250	SIX3	6496	HP:0001636	Tetralogy of Fallot
OMIM:147250	SIX3	6496	HP:0000453	Choanal atresia
OMIM:147250	SIX3	6496	HP:0001622	Premature birth
OMIM:147250	SIX3	6496	HP:0001328	Specific learning disability
OMIM:147250	SIX3	6496	HP:0000463	Anteverted nares
OMIM:147250	SIX3	6496	HP:0000486	Strabismus
OMIM:147250	SIX3	6496	HP:0009800	Maternal diabetes
OMIM:147250	SIX3	6496	HP:0001360	Holoprosencephaly
OMIM:147250	SIX3	6496	HP:0010644	Midnasal stenosis
OMIM:147250	SIX3	6496	HP:0000458	Anosmia
OMIM:147250	SIX3	6496	HP:0000601	Hypotelorism
OMIM:147250	SIX3	6496	HP:0000568	Microphthalmia
OMIM:147250	SIX3	6496	HP:0000951	Abnormality of the skin
OMIM:147250	SIX3	6496	HP:0001511	Intrauterine growth retardation
OMIM:147250	SIX3	6496	HP:0100789	Torus palatinus
OMIM:147250	SIX3	6496	HP:0100543	Cognitive impairment
OMIM:147250	SIX3	6496	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	SIX3	6496	HP:0006315	Single median maxillary incisor
OMIM:147250	SIX3	6496	HP:0100867	Duodenal stenosis
OMIM:147250	SIX3	6496	HP:0002099	Asthma
OMIM:147250	SIX3	6496	HP:0002708	Prominent median palatal raphe
OMIM:147250	SIX3	6496	HP:0000612	Iris coloboma
OMIM:147250	SIX3	6496	HP:0003196	Short nose
OMIM:147250	SIX3	6496	HP:0001250	Seizures
OMIM:147250	SIX3	6496	HP:0003828	Variable expressivity
OMIM:147250	SIX3	6496	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	SIX3	6496	HP:0000824	Growth hormone deficiency
OMIM:147250	SIX3	6496	HP:0000830	Anterior hypopituitarism
OMIM:147250	FOXH1	8928	HP:0003422	Vertebral segmentation defect
OMIM:147250	FOXH1	8928	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	FOXH1	8928	HP:0000821	Hypothyroidism
OMIM:147250	FOXH1	8928	HP:0000062	Ambiguous genitalia
OMIM:147250	FOXH1	8928	HP:0000589	Coloboma
OMIM:147250	FOXH1	8928	HP:0000175	Cleft palate
OMIM:147250	FOXH1	8928	HP:0000006	Autosomal dominant inheritance
OMIM:147250	FOXH1	8928	HP:0010804	Tented upper lip vermilion
OMIM:147250	FOXH1	8928	HP:0000528	Anophthalmia
OMIM:147250	FOXH1	8928	HP:0009914	Cyclopia
OMIM:147250	FOXH1	8928	HP:0000252	Microcephaly
OMIM:147250	FOXH1	8928	HP:0002650	Scoliosis
OMIM:147250	FOXH1	8928	HP:0004322	Short stature
OMIM:147250	FOXH1	8928	HP:0008736	Hypoplasia of penis
OMIM:147250	FOXH1	8928	HP:0000446	Narrow nasal bridge
OMIM:147250	FOXH1	8928	HP:0001256	Intellectual disability, mild
OMIM:147250	FOXH1	8928	HP:0000322	Short philtrum
OMIM:147250	FOXH1	8928	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	FOXH1	8928	HP:0000204	Cleft upper lip
OMIM:147250	FOXH1	8928	HP:0001636	Tetralogy of Fallot
OMIM:147250	FOXH1	8928	HP:0000453	Choanal atresia
OMIM:147250	FOXH1	8928	HP:0001622	Premature birth
OMIM:147250	FOXH1	8928	HP:0001328	Specific learning disability
OMIM:147250	FOXH1	8928	HP:0000463	Anteverted nares
OMIM:147250	FOXH1	8928	HP:0000486	Strabismus
OMIM:147250	FOXH1	8928	HP:0009800	Maternal diabetes
OMIM:147250	FOXH1	8928	HP:0001360	Holoprosencephaly
OMIM:147250	FOXH1	8928	HP:0010644	Midnasal stenosis
OMIM:147250	FOXH1	8928	HP:0000458	Anosmia
OMIM:147250	FOXH1	8928	HP:0000601	Hypotelorism
OMIM:147250	FOXH1	8928	HP:0000568	Microphthalmia
OMIM:147250	FOXH1	8928	HP:0000951	Abnormality of the skin
OMIM:147250	FOXH1	8928	HP:0001511	Intrauterine growth retardation
OMIM:147250	FOXH1	8928	HP:0100789	Torus palatinus
OMIM:147250	FOXH1	8928	HP:0100543	Cognitive impairment
OMIM:147250	FOXH1	8928	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	FOXH1	8928	HP:0006315	Single median maxillary incisor
OMIM:147250	FOXH1	8928	HP:0100867	Duodenal stenosis
OMIM:147250	FOXH1	8928	HP:0002099	Asthma
OMIM:147250	FOXH1	8928	HP:0002708	Prominent median palatal raphe
OMIM:147250	FOXH1	8928	HP:0000612	Iris coloboma
OMIM:147250	FOXH1	8928	HP:0003196	Short nose
OMIM:147250	FOXH1	8928	HP:0001250	Seizures
OMIM:147250	FOXH1	8928	HP:0003828	Variable expressivity
OMIM:147250	FOXH1	8928	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	FOXH1	8928	HP:0000824	Growth hormone deficiency
OMIM:147250	FOXH1	8928	HP:0000830	Anterior hypopituitarism
OMIM:147250	DLL1	28514	HP:0003422	Vertebral segmentation defect
OMIM:147250	DLL1	28514	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	DLL1	28514	HP:0000821	Hypothyroidism
OMIM:147250	DLL1	28514	HP:0000062	Ambiguous genitalia
OMIM:147250	DLL1	28514	HP:0000589	Coloboma
OMIM:147250	DLL1	28514	HP:0000175	Cleft palate
OMIM:147250	DLL1	28514	HP:0000006	Autosomal dominant inheritance
OMIM:147250	DLL1	28514	HP:0010804	Tented upper lip vermilion
OMIM:147250	DLL1	28514	HP:0000528	Anophthalmia
OMIM:147250	DLL1	28514	HP:0009914	Cyclopia
OMIM:147250	DLL1	28514	HP:0000252	Microcephaly
OMIM:147250	DLL1	28514	HP:0002650	Scoliosis
OMIM:147250	DLL1	28514	HP:0004322	Short stature
OMIM:147250	DLL1	28514	HP:0008736	Hypoplasia of penis
OMIM:147250	DLL1	28514	HP:0000446	Narrow nasal bridge
OMIM:147250	DLL1	28514	HP:0001256	Intellectual disability, mild
OMIM:147250	DLL1	28514	HP:0000322	Short philtrum
OMIM:147250	DLL1	28514	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	DLL1	28514	HP:0000204	Cleft upper lip
OMIM:147250	DLL1	28514	HP:0001636	Tetralogy of Fallot
OMIM:147250	DLL1	28514	HP:0000453	Choanal atresia
OMIM:147250	DLL1	28514	HP:0001622	Premature birth
OMIM:147250	DLL1	28514	HP:0001328	Specific learning disability
OMIM:147250	DLL1	28514	HP:0000463	Anteverted nares
OMIM:147250	DLL1	28514	HP:0000486	Strabismus
OMIM:147250	DLL1	28514	HP:0009800	Maternal diabetes
OMIM:147250	DLL1	28514	HP:0001360	Holoprosencephaly
OMIM:147250	DLL1	28514	HP:0010644	Midnasal stenosis
OMIM:147250	DLL1	28514	HP:0000458	Anosmia
OMIM:147250	DLL1	28514	HP:0000601	Hypotelorism
OMIM:147250	DLL1	28514	HP:0000568	Microphthalmia
OMIM:147250	DLL1	28514	HP:0000951	Abnormality of the skin
OMIM:147250	DLL1	28514	HP:0001511	Intrauterine growth retardation
OMIM:147250	DLL1	28514	HP:0100789	Torus palatinus
OMIM:147250	DLL1	28514	HP:0100543	Cognitive impairment
OMIM:147250	DLL1	28514	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	DLL1	28514	HP:0006315	Single median maxillary incisor
OMIM:147250	DLL1	28514	HP:0100867	Duodenal stenosis
OMIM:147250	DLL1	28514	HP:0002099	Asthma
OMIM:147250	DLL1	28514	HP:0002708	Prominent median palatal raphe
OMIM:147250	DLL1	28514	HP:0000612	Iris coloboma
OMIM:147250	DLL1	28514	HP:0003196	Short nose
OMIM:147250	DLL1	28514	HP:0001250	Seizures
OMIM:147250	DLL1	28514	HP:0003828	Variable expressivity
OMIM:147250	DLL1	28514	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	DLL1	28514	HP:0000824	Growth hormone deficiency
OMIM:147250	DLL1	28514	HP:0000830	Anterior hypopituitarism
OMIM:147250	SHH	6469	HP:0003422	Vertebral segmentation defect
OMIM:147250	SHH	6469	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	SHH	6469	HP:0000821	Hypothyroidism
OMIM:147250	SHH	6469	HP:0000062	Ambiguous genitalia
OMIM:147250	SHH	6469	HP:0000589	Coloboma
OMIM:147250	SHH	6469	HP:0000175	Cleft palate
OMIM:147250	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:147250	SHH	6469	HP:0010804	Tented upper lip vermilion
OMIM:147250	SHH	6469	HP:0000528	Anophthalmia
OMIM:147250	SHH	6469	HP:0009914	Cyclopia
OMIM:147250	SHH	6469	HP:0000252	Microcephaly
OMIM:147250	SHH	6469	HP:0002650	Scoliosis
OMIM:147250	SHH	6469	HP:0004322	Short stature
OMIM:147250	SHH	6469	HP:0008736	Hypoplasia of penis
OMIM:147250	SHH	6469	HP:0000446	Narrow nasal bridge
OMIM:147250	SHH	6469	HP:0001256	Intellectual disability, mild
OMIM:147250	SHH	6469	HP:0000322	Short philtrum
OMIM:147250	SHH	6469	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	SHH	6469	HP:0000204	Cleft upper lip
OMIM:147250	SHH	6469	HP:0001636	Tetralogy of Fallot
OMIM:147250	SHH	6469	HP:0000453	Choanal atresia
OMIM:147250	SHH	6469	HP:0001622	Premature birth
OMIM:147250	SHH	6469	HP:0001328	Specific learning disability
OMIM:147250	SHH	6469	HP:0000463	Anteverted nares
OMIM:147250	SHH	6469	HP:0000486	Strabismus
OMIM:147250	SHH	6469	HP:0009800	Maternal diabetes
OMIM:147250	SHH	6469	HP:0001360	Holoprosencephaly
OMIM:147250	SHH	6469	HP:0010644	Midnasal stenosis
OMIM:147250	SHH	6469	HP:0000458	Anosmia
OMIM:147250	SHH	6469	HP:0000601	Hypotelorism
OMIM:147250	SHH	6469	HP:0000568	Microphthalmia
OMIM:147250	SHH	6469	HP:0000951	Abnormality of the skin
OMIM:147250	SHH	6469	HP:0001511	Intrauterine growth retardation
OMIM:147250	SHH	6469	HP:0100789	Torus palatinus
OMIM:147250	SHH	6469	HP:0100543	Cognitive impairment
OMIM:147250	SHH	6469	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	SHH	6469	HP:0006315	Single median maxillary incisor
OMIM:147250	SHH	6469	HP:0100867	Duodenal stenosis
OMIM:147250	SHH	6469	HP:0002099	Asthma
OMIM:147250	SHH	6469	HP:0002708	Prominent median palatal raphe
OMIM:147250	SHH	6469	HP:0000612	Iris coloboma
OMIM:147250	SHH	6469	HP:0003196	Short nose
OMIM:147250	SHH	6469	HP:0001250	Seizures
OMIM:147250	SHH	6469	HP:0003828	Variable expressivity
OMIM:147250	SHH	6469	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	SHH	6469	HP:0000824	Growth hormone deficiency
OMIM:147250	SHH	6469	HP:0000830	Anterior hypopituitarism
OMIM:147250	NODAL	4838	HP:0003422	Vertebral segmentation defect
OMIM:147250	NODAL	4838	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	NODAL	4838	HP:0000821	Hypothyroidism
OMIM:147250	NODAL	4838	HP:0000062	Ambiguous genitalia
OMIM:147250	NODAL	4838	HP:0000589	Coloboma
OMIM:147250	NODAL	4838	HP:0000175	Cleft palate
OMIM:147250	NODAL	4838	HP:0000006	Autosomal dominant inheritance
OMIM:147250	NODAL	4838	HP:0010804	Tented upper lip vermilion
OMIM:147250	NODAL	4838	HP:0000528	Anophthalmia
OMIM:147250	NODAL	4838	HP:0009914	Cyclopia
OMIM:147250	NODAL	4838	HP:0000252	Microcephaly
OMIM:147250	NODAL	4838	HP:0002650	Scoliosis
OMIM:147250	NODAL	4838	HP:0004322	Short stature
OMIM:147250	NODAL	4838	HP:0008736	Hypoplasia of penis
OMIM:147250	NODAL	4838	HP:0000446	Narrow nasal bridge
OMIM:147250	NODAL	4838	HP:0001256	Intellectual disability, mild
OMIM:147250	NODAL	4838	HP:0000322	Short philtrum
OMIM:147250	NODAL	4838	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	NODAL	4838	HP:0000204	Cleft upper lip
OMIM:147250	NODAL	4838	HP:0001636	Tetralogy of Fallot
OMIM:147250	NODAL	4838	HP:0000453	Choanal atresia
OMIM:147250	NODAL	4838	HP:0001622	Premature birth
OMIM:147250	NODAL	4838	HP:0001328	Specific learning disability
OMIM:147250	NODAL	4838	HP:0000463	Anteverted nares
OMIM:147250	NODAL	4838	HP:0000486	Strabismus
OMIM:147250	NODAL	4838	HP:0009800	Maternal diabetes
OMIM:147250	NODAL	4838	HP:0001360	Holoprosencephaly
OMIM:147250	NODAL	4838	HP:0010644	Midnasal stenosis
OMIM:147250	NODAL	4838	HP:0000458	Anosmia
OMIM:147250	NODAL	4838	HP:0000601	Hypotelorism
OMIM:147250	NODAL	4838	HP:0000568	Microphthalmia
OMIM:147250	NODAL	4838	HP:0000951	Abnormality of the skin
OMIM:147250	NODAL	4838	HP:0001511	Intrauterine growth retardation
OMIM:147250	NODAL	4838	HP:0100789	Torus palatinus
OMIM:147250	NODAL	4838	HP:0100543	Cognitive impairment
OMIM:147250	NODAL	4838	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	NODAL	4838	HP:0006315	Single median maxillary incisor
OMIM:147250	NODAL	4838	HP:0100867	Duodenal stenosis
OMIM:147250	NODAL	4838	HP:0002099	Asthma
OMIM:147250	NODAL	4838	HP:0002708	Prominent median palatal raphe
OMIM:147250	NODAL	4838	HP:0000612	Iris coloboma
OMIM:147250	NODAL	4838	HP:0003196	Short nose
OMIM:147250	NODAL	4838	HP:0001250	Seizures
OMIM:147250	NODAL	4838	HP:0003828	Variable expressivity
OMIM:147250	NODAL	4838	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	NODAL	4838	HP:0000824	Growth hormone deficiency
OMIM:147250	NODAL	4838	HP:0000830	Anterior hypopituitarism
OMIM:147250	TGIF1	7050	HP:0003422	Vertebral segmentation defect
OMIM:147250	TGIF1	7050	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	TGIF1	7050	HP:0000821	Hypothyroidism
OMIM:147250	TGIF1	7050	HP:0000062	Ambiguous genitalia
OMIM:147250	TGIF1	7050	HP:0000589	Coloboma
OMIM:147250	TGIF1	7050	HP:0000175	Cleft palate
OMIM:147250	TGIF1	7050	HP:0000006	Autosomal dominant inheritance
OMIM:147250	TGIF1	7050	HP:0010804	Tented upper lip vermilion
OMIM:147250	TGIF1	7050	HP:0000528	Anophthalmia
OMIM:147250	TGIF1	7050	HP:0009914	Cyclopia
OMIM:147250	TGIF1	7050	HP:0000252	Microcephaly
OMIM:147250	TGIF1	7050	HP:0002650	Scoliosis
OMIM:147250	TGIF1	7050	HP:0004322	Short stature
OMIM:147250	TGIF1	7050	HP:0008736	Hypoplasia of penis
OMIM:147250	TGIF1	7050	HP:0000446	Narrow nasal bridge
OMIM:147250	TGIF1	7050	HP:0001256	Intellectual disability, mild
OMIM:147250	TGIF1	7050	HP:0000322	Short philtrum
OMIM:147250	TGIF1	7050	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	TGIF1	7050	HP:0000204	Cleft upper lip
OMIM:147250	TGIF1	7050	HP:0001636	Tetralogy of Fallot
OMIM:147250	TGIF1	7050	HP:0000453	Choanal atresia
OMIM:147250	TGIF1	7050	HP:0001622	Premature birth
OMIM:147250	TGIF1	7050	HP:0001328	Specific learning disability
OMIM:147250	TGIF1	7050	HP:0000463	Anteverted nares
OMIM:147250	TGIF1	7050	HP:0000486	Strabismus
OMIM:147250	TGIF1	7050	HP:0009800	Maternal diabetes
OMIM:147250	TGIF1	7050	HP:0001360	Holoprosencephaly
OMIM:147250	TGIF1	7050	HP:0010644	Midnasal stenosis
OMIM:147250	TGIF1	7050	HP:0000458	Anosmia
OMIM:147250	TGIF1	7050	HP:0000601	Hypotelorism
OMIM:147250	TGIF1	7050	HP:0000568	Microphthalmia
OMIM:147250	TGIF1	7050	HP:0000951	Abnormality of the skin
OMIM:147250	TGIF1	7050	HP:0001511	Intrauterine growth retardation
OMIM:147250	TGIF1	7050	HP:0100789	Torus palatinus
OMIM:147250	TGIF1	7050	HP:0100543	Cognitive impairment
OMIM:147250	TGIF1	7050	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	TGIF1	7050	HP:0006315	Single median maxillary incisor
OMIM:147250	TGIF1	7050	HP:0100867	Duodenal stenosis
OMIM:147250	TGIF1	7050	HP:0002099	Asthma
OMIM:147250	TGIF1	7050	HP:0002708	Prominent median palatal raphe
OMIM:147250	TGIF1	7050	HP:0000612	Iris coloboma
OMIM:147250	TGIF1	7050	HP:0003196	Short nose
OMIM:147250	TGIF1	7050	HP:0001250	Seizures
OMIM:147250	TGIF1	7050	HP:0003828	Variable expressivity
OMIM:147250	TGIF1	7050	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	TGIF1	7050	HP:0000824	Growth hormone deficiency
OMIM:147250	TGIF1	7050	HP:0000830	Anterior hypopituitarism
OMIM:147250	FGF8	2253	HP:0003422	Vertebral segmentation defect
OMIM:147250	FGF8	2253	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	FGF8	2253	HP:0000821	Hypothyroidism
OMIM:147250	FGF8	2253	HP:0000062	Ambiguous genitalia
OMIM:147250	FGF8	2253	HP:0000589	Coloboma
OMIM:147250	FGF8	2253	HP:0000175	Cleft palate
OMIM:147250	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:147250	FGF8	2253	HP:0010804	Tented upper lip vermilion
OMIM:147250	FGF8	2253	HP:0000528	Anophthalmia
OMIM:147250	FGF8	2253	HP:0009914	Cyclopia
OMIM:147250	FGF8	2253	HP:0000252	Microcephaly
OMIM:147250	FGF8	2253	HP:0002650	Scoliosis
OMIM:147250	FGF8	2253	HP:0004322	Short stature
OMIM:147250	FGF8	2253	HP:0008736	Hypoplasia of penis
OMIM:147250	FGF8	2253	HP:0000446	Narrow nasal bridge
OMIM:147250	FGF8	2253	HP:0001256	Intellectual disability, mild
OMIM:147250	FGF8	2253	HP:0000322	Short philtrum
OMIM:147250	FGF8	2253	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	FGF8	2253	HP:0000204	Cleft upper lip
OMIM:147250	FGF8	2253	HP:0001636	Tetralogy of Fallot
OMIM:147250	FGF8	2253	HP:0000453	Choanal atresia
OMIM:147250	FGF8	2253	HP:0001622	Premature birth
OMIM:147250	FGF8	2253	HP:0001328	Specific learning disability
OMIM:147250	FGF8	2253	HP:0000463	Anteverted nares
OMIM:147250	FGF8	2253	HP:0000486	Strabismus
OMIM:147250	FGF8	2253	HP:0009800	Maternal diabetes
OMIM:147250	FGF8	2253	HP:0001360	Holoprosencephaly
OMIM:147250	FGF8	2253	HP:0010644	Midnasal stenosis
OMIM:147250	FGF8	2253	HP:0000458	Anosmia
OMIM:147250	FGF8	2253	HP:0000601	Hypotelorism
OMIM:147250	FGF8	2253	HP:0000568	Microphthalmia
OMIM:147250	FGF8	2253	HP:0000951	Abnormality of the skin
OMIM:147250	FGF8	2253	HP:0001511	Intrauterine growth retardation
OMIM:147250	FGF8	2253	HP:0100789	Torus palatinus
OMIM:147250	FGF8	2253	HP:0100543	Cognitive impairment
OMIM:147250	FGF8	2253	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	FGF8	2253	HP:0006315	Single median maxillary incisor
OMIM:147250	FGF8	2253	HP:0100867	Duodenal stenosis
OMIM:147250	FGF8	2253	HP:0002099	Asthma
OMIM:147250	FGF8	2253	HP:0002708	Prominent median palatal raphe
OMIM:147250	FGF8	2253	HP:0000612	Iris coloboma
OMIM:147250	FGF8	2253	HP:0003196	Short nose
OMIM:147250	FGF8	2253	HP:0001250	Seizures
OMIM:147250	FGF8	2253	HP:0003828	Variable expressivity
OMIM:147250	FGF8	2253	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	FGF8	2253	HP:0000824	Growth hormone deficiency
OMIM:147250	FGF8	2253	HP:0000830	Anterior hypopituitarism
OMIM:147250	GLI2	2736	HP:0003422	Vertebral segmentation defect
OMIM:147250	GLI2	2736	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	GLI2	2736	HP:0000821	Hypothyroidism
OMIM:147250	GLI2	2736	HP:0000062	Ambiguous genitalia
OMIM:147250	GLI2	2736	HP:0000589	Coloboma
OMIM:147250	GLI2	2736	HP:0000175	Cleft palate
OMIM:147250	GLI2	2736	HP:0000006	Autosomal dominant inheritance
OMIM:147250	GLI2	2736	HP:0010804	Tented upper lip vermilion
OMIM:147250	GLI2	2736	HP:0000528	Anophthalmia
OMIM:147250	GLI2	2736	HP:0009914	Cyclopia
OMIM:147250	GLI2	2736	HP:0000252	Microcephaly
OMIM:147250	GLI2	2736	HP:0002650	Scoliosis
OMIM:147250	GLI2	2736	HP:0004322	Short stature
OMIM:147250	GLI2	2736	HP:0008736	Hypoplasia of penis
OMIM:147250	GLI2	2736	HP:0000446	Narrow nasal bridge
OMIM:147250	GLI2	2736	HP:0001256	Intellectual disability, mild
OMIM:147250	GLI2	2736	HP:0000322	Short philtrum
OMIM:147250	GLI2	2736	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	GLI2	2736	HP:0000204	Cleft upper lip
OMIM:147250	GLI2	2736	HP:0001636	Tetralogy of Fallot
OMIM:147250	GLI2	2736	HP:0000453	Choanal atresia
OMIM:147250	GLI2	2736	HP:0001622	Premature birth
OMIM:147250	GLI2	2736	HP:0001328	Specific learning disability
OMIM:147250	GLI2	2736	HP:0000463	Anteverted nares
OMIM:147250	GLI2	2736	HP:0000486	Strabismus
OMIM:147250	GLI2	2736	HP:0009800	Maternal diabetes
OMIM:147250	GLI2	2736	HP:0001360	Holoprosencephaly
OMIM:147250	GLI2	2736	HP:0010644	Midnasal stenosis
OMIM:147250	GLI2	2736	HP:0000458	Anosmia
OMIM:147250	GLI2	2736	HP:0000601	Hypotelorism
OMIM:147250	GLI2	2736	HP:0000568	Microphthalmia
OMIM:147250	GLI2	2736	HP:0000951	Abnormality of the skin
OMIM:147250	GLI2	2736	HP:0001511	Intrauterine growth retardation
OMIM:147250	GLI2	2736	HP:0100789	Torus palatinus
OMIM:147250	GLI2	2736	HP:0100543	Cognitive impairment
OMIM:147250	GLI2	2736	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	GLI2	2736	HP:0006315	Single median maxillary incisor
OMIM:147250	GLI2	2736	HP:0100867	Duodenal stenosis
OMIM:147250	GLI2	2736	HP:0002099	Asthma
OMIM:147250	GLI2	2736	HP:0002708	Prominent median palatal raphe
OMIM:147250	GLI2	2736	HP:0000612	Iris coloboma
OMIM:147250	GLI2	2736	HP:0003196	Short nose
OMIM:147250	GLI2	2736	HP:0001250	Seizures
OMIM:147250	GLI2	2736	HP:0003828	Variable expressivity
OMIM:147250	GLI2	2736	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	GLI2	2736	HP:0000824	Growth hormone deficiency
OMIM:147250	GLI2	2736	HP:0000830	Anterior hypopituitarism
OMIM:147250	DISP1	84976	HP:0003422	Vertebral segmentation defect
OMIM:147250	DISP1	84976	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	DISP1	84976	HP:0000821	Hypothyroidism
OMIM:147250	DISP1	84976	HP:0000062	Ambiguous genitalia
OMIM:147250	DISP1	84976	HP:0000589	Coloboma
OMIM:147250	DISP1	84976	HP:0000175	Cleft palate
OMIM:147250	DISP1	84976	HP:0000006	Autosomal dominant inheritance
OMIM:147250	DISP1	84976	HP:0010804	Tented upper lip vermilion
OMIM:147250	DISP1	84976	HP:0000528	Anophthalmia
OMIM:147250	DISP1	84976	HP:0009914	Cyclopia
OMIM:147250	DISP1	84976	HP:0000252	Microcephaly
OMIM:147250	DISP1	84976	HP:0002650	Scoliosis
OMIM:147250	DISP1	84976	HP:0004322	Short stature
OMIM:147250	DISP1	84976	HP:0008736	Hypoplasia of penis
OMIM:147250	DISP1	84976	HP:0000446	Narrow nasal bridge
OMIM:147250	DISP1	84976	HP:0001256	Intellectual disability, mild
OMIM:147250	DISP1	84976	HP:0000322	Short philtrum
OMIM:147250	DISP1	84976	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	DISP1	84976	HP:0000204	Cleft upper lip
OMIM:147250	DISP1	84976	HP:0001636	Tetralogy of Fallot
OMIM:147250	DISP1	84976	HP:0000453	Choanal atresia
OMIM:147250	DISP1	84976	HP:0001622	Premature birth
OMIM:147250	DISP1	84976	HP:0001328	Specific learning disability
OMIM:147250	DISP1	84976	HP:0000463	Anteverted nares
OMIM:147250	DISP1	84976	HP:0000486	Strabismus
OMIM:147250	DISP1	84976	HP:0009800	Maternal diabetes
OMIM:147250	DISP1	84976	HP:0001360	Holoprosencephaly
OMIM:147250	DISP1	84976	HP:0010644	Midnasal stenosis
OMIM:147250	DISP1	84976	HP:0000458	Anosmia
OMIM:147250	DISP1	84976	HP:0000601	Hypotelorism
OMIM:147250	DISP1	84976	HP:0000568	Microphthalmia
OMIM:147250	DISP1	84976	HP:0000951	Abnormality of the skin
OMIM:147250	DISP1	84976	HP:0001511	Intrauterine growth retardation
OMIM:147250	DISP1	84976	HP:0100789	Torus palatinus
OMIM:147250	DISP1	84976	HP:0100543	Cognitive impairment
OMIM:147250	DISP1	84976	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	DISP1	84976	HP:0006315	Single median maxillary incisor
OMIM:147250	DISP1	84976	HP:0100867	Duodenal stenosis
OMIM:147250	DISP1	84976	HP:0002099	Asthma
OMIM:147250	DISP1	84976	HP:0002708	Prominent median palatal raphe
OMIM:147250	DISP1	84976	HP:0000612	Iris coloboma
OMIM:147250	DISP1	84976	HP:0003196	Short nose
OMIM:147250	DISP1	84976	HP:0001250	Seizures
OMIM:147250	DISP1	84976	HP:0003828	Variable expressivity
OMIM:147250	DISP1	84976	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	DISP1	84976	HP:0000824	Growth hormone deficiency
OMIM:147250	DISP1	84976	HP:0000830	Anterior hypopituitarism
OMIM:147250	TDGF1	6997	HP:0003422	Vertebral segmentation defect
OMIM:147250	TDGF1	6997	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	TDGF1	6997	HP:0000821	Hypothyroidism
OMIM:147250	TDGF1	6997	HP:0000062	Ambiguous genitalia
OMIM:147250	TDGF1	6997	HP:0000589	Coloboma
OMIM:147250	TDGF1	6997	HP:0000175	Cleft palate
OMIM:147250	TDGF1	6997	HP:0000006	Autosomal dominant inheritance
OMIM:147250	TDGF1	6997	HP:0010804	Tented upper lip vermilion
OMIM:147250	TDGF1	6997	HP:0000528	Anophthalmia
OMIM:147250	TDGF1	6997	HP:0009914	Cyclopia
OMIM:147250	TDGF1	6997	HP:0000252	Microcephaly
OMIM:147250	TDGF1	6997	HP:0002650	Scoliosis
OMIM:147250	TDGF1	6997	HP:0004322	Short stature
OMIM:147250	TDGF1	6997	HP:0008736	Hypoplasia of penis
OMIM:147250	TDGF1	6997	HP:0000446	Narrow nasal bridge
OMIM:147250	TDGF1	6997	HP:0001256	Intellectual disability, mild
OMIM:147250	TDGF1	6997	HP:0000322	Short philtrum
OMIM:147250	TDGF1	6997	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	TDGF1	6997	HP:0000204	Cleft upper lip
OMIM:147250	TDGF1	6997	HP:0001636	Tetralogy of Fallot
OMIM:147250	TDGF1	6997	HP:0000453	Choanal atresia
OMIM:147250	TDGF1	6997	HP:0001622	Premature birth
OMIM:147250	TDGF1	6997	HP:0001328	Specific learning disability
OMIM:147250	TDGF1	6997	HP:0000463	Anteverted nares
OMIM:147250	TDGF1	6997	HP:0000486	Strabismus
OMIM:147250	TDGF1	6997	HP:0009800	Maternal diabetes
OMIM:147250	TDGF1	6997	HP:0001360	Holoprosencephaly
OMIM:147250	TDGF1	6997	HP:0010644	Midnasal stenosis
OMIM:147250	TDGF1	6997	HP:0000458	Anosmia
OMIM:147250	TDGF1	6997	HP:0000601	Hypotelorism
OMIM:147250	TDGF1	6997	HP:0000568	Microphthalmia
OMIM:147250	TDGF1	6997	HP:0000951	Abnormality of the skin
OMIM:147250	TDGF1	6997	HP:0001511	Intrauterine growth retardation
OMIM:147250	TDGF1	6997	HP:0100789	Torus palatinus
OMIM:147250	TDGF1	6997	HP:0100543	Cognitive impairment
OMIM:147250	TDGF1	6997	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	TDGF1	6997	HP:0006315	Single median maxillary incisor
OMIM:147250	TDGF1	6997	HP:0100867	Duodenal stenosis
OMIM:147250	TDGF1	6997	HP:0002099	Asthma
OMIM:147250	TDGF1	6997	HP:0002708	Prominent median palatal raphe
OMIM:147250	TDGF1	6997	HP:0000612	Iris coloboma
OMIM:147250	TDGF1	6997	HP:0003196	Short nose
OMIM:147250	TDGF1	6997	HP:0001250	Seizures
OMIM:147250	TDGF1	6997	HP:0003828	Variable expressivity
OMIM:147250	TDGF1	6997	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	TDGF1	6997	HP:0000824	Growth hormone deficiency
OMIM:147250	TDGF1	6997	HP:0000830	Anterior hypopituitarism
OMIM:147250	CDON	50937	HP:0003422	Vertebral segmentation defect
OMIM:147250	CDON	50937	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	CDON	50937	HP:0000821	Hypothyroidism
OMIM:147250	CDON	50937	HP:0000062	Ambiguous genitalia
OMIM:147250	CDON	50937	HP:0000589	Coloboma
OMIM:147250	CDON	50937	HP:0000175	Cleft palate
OMIM:147250	CDON	50937	HP:0000006	Autosomal dominant inheritance
OMIM:147250	CDON	50937	HP:0010804	Tented upper lip vermilion
OMIM:147250	CDON	50937	HP:0000528	Anophthalmia
OMIM:147250	CDON	50937	HP:0009914	Cyclopia
OMIM:147250	CDON	50937	HP:0000252	Microcephaly
OMIM:147250	CDON	50937	HP:0002650	Scoliosis
OMIM:147250	CDON	50937	HP:0004322	Short stature
OMIM:147250	CDON	50937	HP:0008736	Hypoplasia of penis
OMIM:147250	CDON	50937	HP:0000446	Narrow nasal bridge
OMIM:147250	CDON	50937	HP:0001256	Intellectual disability, mild
OMIM:147250	CDON	50937	HP:0000322	Short philtrum
OMIM:147250	CDON	50937	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	CDON	50937	HP:0000204	Cleft upper lip
OMIM:147250	CDON	50937	HP:0001636	Tetralogy of Fallot
OMIM:147250	CDON	50937	HP:0000453	Choanal atresia
OMIM:147250	CDON	50937	HP:0001622	Premature birth
OMIM:147250	CDON	50937	HP:0001328	Specific learning disability
OMIM:147250	CDON	50937	HP:0000463	Anteverted nares
OMIM:147250	CDON	50937	HP:0000486	Strabismus
OMIM:147250	CDON	50937	HP:0009800	Maternal diabetes
OMIM:147250	CDON	50937	HP:0001360	Holoprosencephaly
OMIM:147250	CDON	50937	HP:0010644	Midnasal stenosis
OMIM:147250	CDON	50937	HP:0000458	Anosmia
OMIM:147250	CDON	50937	HP:0000601	Hypotelorism
OMIM:147250	CDON	50937	HP:0000568	Microphthalmia
OMIM:147250	CDON	50937	HP:0000951	Abnormality of the skin
OMIM:147250	CDON	50937	HP:0001511	Intrauterine growth retardation
OMIM:147250	CDON	50937	HP:0100789	Torus palatinus
OMIM:147250	CDON	50937	HP:0100543	Cognitive impairment
OMIM:147250	CDON	50937	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	CDON	50937	HP:0006315	Single median maxillary incisor
OMIM:147250	CDON	50937	HP:0100867	Duodenal stenosis
OMIM:147250	CDON	50937	HP:0002099	Asthma
OMIM:147250	CDON	50937	HP:0002708	Prominent median palatal raphe
OMIM:147250	CDON	50937	HP:0000612	Iris coloboma
OMIM:147250	CDON	50937	HP:0003196	Short nose
OMIM:147250	CDON	50937	HP:0001250	Seizures
OMIM:147250	CDON	50937	HP:0003828	Variable expressivity
OMIM:147250	CDON	50937	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	CDON	50937	HP:0000824	Growth hormone deficiency
OMIM:147250	CDON	50937	HP:0000830	Anterior hypopituitarism
OMIM:147250	ZIC2	7546	HP:0003422	Vertebral segmentation defect
OMIM:147250	ZIC2	7546	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	ZIC2	7546	HP:0000821	Hypothyroidism
OMIM:147250	ZIC2	7546	HP:0000062	Ambiguous genitalia
OMIM:147250	ZIC2	7546	HP:0000589	Coloboma
OMIM:147250	ZIC2	7546	HP:0000175	Cleft palate
OMIM:147250	ZIC2	7546	HP:0000006	Autosomal dominant inheritance
OMIM:147250	ZIC2	7546	HP:0010804	Tented upper lip vermilion
OMIM:147250	ZIC2	7546	HP:0000528	Anophthalmia
OMIM:147250	ZIC2	7546	HP:0009914	Cyclopia
OMIM:147250	ZIC2	7546	HP:0000252	Microcephaly
OMIM:147250	ZIC2	7546	HP:0002650	Scoliosis
OMIM:147250	ZIC2	7546	HP:0004322	Short stature
OMIM:147250	ZIC2	7546	HP:0008736	Hypoplasia of penis
OMIM:147250	ZIC2	7546	HP:0000446	Narrow nasal bridge
OMIM:147250	ZIC2	7546	HP:0001256	Intellectual disability, mild
OMIM:147250	ZIC2	7546	HP:0000322	Short philtrum
OMIM:147250	ZIC2	7546	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	ZIC2	7546	HP:0000204	Cleft upper lip
OMIM:147250	ZIC2	7546	HP:0001636	Tetralogy of Fallot
OMIM:147250	ZIC2	7546	HP:0000453	Choanal atresia
OMIM:147250	ZIC2	7546	HP:0001622	Premature birth
OMIM:147250	ZIC2	7546	HP:0001328	Specific learning disability
OMIM:147250	ZIC2	7546	HP:0000463	Anteverted nares
OMIM:147250	ZIC2	7546	HP:0000486	Strabismus
OMIM:147250	ZIC2	7546	HP:0009800	Maternal diabetes
OMIM:147250	ZIC2	7546	HP:0001360	Holoprosencephaly
OMIM:147250	ZIC2	7546	HP:0010644	Midnasal stenosis
OMIM:147250	ZIC2	7546	HP:0000458	Anosmia
OMIM:147250	ZIC2	7546	HP:0000601	Hypotelorism
OMIM:147250	ZIC2	7546	HP:0000568	Microphthalmia
OMIM:147250	ZIC2	7546	HP:0000951	Abnormality of the skin
OMIM:147250	ZIC2	7546	HP:0001511	Intrauterine growth retardation
OMIM:147250	ZIC2	7546	HP:0100789	Torus palatinus
OMIM:147250	ZIC2	7546	HP:0100543	Cognitive impairment
OMIM:147250	ZIC2	7546	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	ZIC2	7546	HP:0006315	Single median maxillary incisor
OMIM:147250	ZIC2	7546	HP:0100867	Duodenal stenosis
OMIM:147250	ZIC2	7546	HP:0002099	Asthma
OMIM:147250	ZIC2	7546	HP:0002708	Prominent median palatal raphe
OMIM:147250	ZIC2	7546	HP:0000612	Iris coloboma
OMIM:147250	ZIC2	7546	HP:0003196	Short nose
OMIM:147250	ZIC2	7546	HP:0001250	Seizures
OMIM:147250	ZIC2	7546	HP:0003828	Variable expressivity
OMIM:147250	ZIC2	7546	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	ZIC2	7546	HP:0000824	Growth hormone deficiency
OMIM:147250	ZIC2	7546	HP:0000830	Anterior hypopituitarism
OMIM:147250	GAS1	2619	HP:0003422	Vertebral segmentation defect
OMIM:147250	GAS1	2619	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	GAS1	2619	HP:0000821	Hypothyroidism
OMIM:147250	GAS1	2619	HP:0000062	Ambiguous genitalia
OMIM:147250	GAS1	2619	HP:0000589	Coloboma
OMIM:147250	GAS1	2619	HP:0000175	Cleft palate
OMIM:147250	GAS1	2619	HP:0000006	Autosomal dominant inheritance
OMIM:147250	GAS1	2619	HP:0010804	Tented upper lip vermilion
OMIM:147250	GAS1	2619	HP:0000528	Anophthalmia
OMIM:147250	GAS1	2619	HP:0009914	Cyclopia
OMIM:147250	GAS1	2619	HP:0000252	Microcephaly
OMIM:147250	GAS1	2619	HP:0002650	Scoliosis
OMIM:147250	GAS1	2619	HP:0004322	Short stature
OMIM:147250	GAS1	2619	HP:0008736	Hypoplasia of penis
OMIM:147250	GAS1	2619	HP:0000446	Narrow nasal bridge
OMIM:147250	GAS1	2619	HP:0001256	Intellectual disability, mild
OMIM:147250	GAS1	2619	HP:0000322	Short philtrum
OMIM:147250	GAS1	2619	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	GAS1	2619	HP:0000204	Cleft upper lip
OMIM:147250	GAS1	2619	HP:0001636	Tetralogy of Fallot
OMIM:147250	GAS1	2619	HP:0000453	Choanal atresia
OMIM:147250	GAS1	2619	HP:0001622	Premature birth
OMIM:147250	GAS1	2619	HP:0001328	Specific learning disability
OMIM:147250	GAS1	2619	HP:0000463	Anteverted nares
OMIM:147250	GAS1	2619	HP:0000486	Strabismus
OMIM:147250	GAS1	2619	HP:0009800	Maternal diabetes
OMIM:147250	GAS1	2619	HP:0001360	Holoprosencephaly
OMIM:147250	GAS1	2619	HP:0010644	Midnasal stenosis
OMIM:147250	GAS1	2619	HP:0000458	Anosmia
OMIM:147250	GAS1	2619	HP:0000601	Hypotelorism
OMIM:147250	GAS1	2619	HP:0000568	Microphthalmia
OMIM:147250	GAS1	2619	HP:0000951	Abnormality of the skin
OMIM:147250	GAS1	2619	HP:0001511	Intrauterine growth retardation
OMIM:147250	GAS1	2619	HP:0100789	Torus palatinus
OMIM:147250	GAS1	2619	HP:0100543	Cognitive impairment
OMIM:147250	GAS1	2619	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	GAS1	2619	HP:0006315	Single median maxillary incisor
OMIM:147250	GAS1	2619	HP:0100867	Duodenal stenosis
OMIM:147250	GAS1	2619	HP:0002099	Asthma
OMIM:147250	GAS1	2619	HP:0002708	Prominent median palatal raphe
OMIM:147250	GAS1	2619	HP:0000612	Iris coloboma
OMIM:147250	GAS1	2619	HP:0003196	Short nose
OMIM:147250	GAS1	2619	HP:0001250	Seizures
OMIM:147250	GAS1	2619	HP:0003828	Variable expressivity
OMIM:147250	GAS1	2619	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	GAS1	2619	HP:0000824	Growth hormone deficiency
OMIM:147250	GAS1	2619	HP:0000830	Anterior hypopituitarism
OMIM:147250	PTCH1	5727	HP:0003422	Vertebral segmentation defect
OMIM:147250	PTCH1	5727	HP:0001739	Abnormality of the nasopharynx
OMIM:147250	PTCH1	5727	HP:0000821	Hypothyroidism
OMIM:147250	PTCH1	5727	HP:0000062	Ambiguous genitalia
OMIM:147250	PTCH1	5727	HP:0000589	Coloboma
OMIM:147250	PTCH1	5727	HP:0000175	Cleft palate
OMIM:147250	PTCH1	5727	HP:0000006	Autosomal dominant inheritance
OMIM:147250	PTCH1	5727	HP:0010804	Tented upper lip vermilion
OMIM:147250	PTCH1	5727	HP:0000528	Anophthalmia
OMIM:147250	PTCH1	5727	HP:0009914	Cyclopia
OMIM:147250	PTCH1	5727	HP:0000252	Microcephaly
OMIM:147250	PTCH1	5727	HP:0002650	Scoliosis
OMIM:147250	PTCH1	5727	HP:0004322	Short stature
OMIM:147250	PTCH1	5727	HP:0008736	Hypoplasia of penis
OMIM:147250	PTCH1	5727	HP:0000446	Narrow nasal bridge
OMIM:147250	PTCH1	5727	HP:0001256	Intellectual disability, mild
OMIM:147250	PTCH1	5727	HP:0000322	Short philtrum
OMIM:147250	PTCH1	5727	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:147250	PTCH1	5727	HP:0000204	Cleft upper lip
OMIM:147250	PTCH1	5727	HP:0001636	Tetralogy of Fallot
OMIM:147250	PTCH1	5727	HP:0000453	Choanal atresia
OMIM:147250	PTCH1	5727	HP:0001622	Premature birth
OMIM:147250	PTCH1	5727	HP:0001328	Specific learning disability
OMIM:147250	PTCH1	5727	HP:0000463	Anteverted nares
OMIM:147250	PTCH1	5727	HP:0000486	Strabismus
OMIM:147250	PTCH1	5727	HP:0009800	Maternal diabetes
OMIM:147250	PTCH1	5727	HP:0001360	Holoprosencephaly
OMIM:147250	PTCH1	5727	HP:0010644	Midnasal stenosis
OMIM:147250	PTCH1	5727	HP:0000458	Anosmia
OMIM:147250	PTCH1	5727	HP:0000601	Hypotelorism
OMIM:147250	PTCH1	5727	HP:0000568	Microphthalmia
OMIM:147250	PTCH1	5727	HP:0000951	Abnormality of the skin
OMIM:147250	PTCH1	5727	HP:0001511	Intrauterine growth retardation
OMIM:147250	PTCH1	5727	HP:0100789	Torus palatinus
OMIM:147250	PTCH1	5727	HP:0100543	Cognitive impairment
OMIM:147250	PTCH1	5727	HP:0002916	Abnormality of chromosome segregation
OMIM:147250	PTCH1	5727	HP:0006315	Single median maxillary incisor
OMIM:147250	PTCH1	5727	HP:0100867	Duodenal stenosis
OMIM:147250	PTCH1	5727	HP:0002099	Asthma
OMIM:147250	PTCH1	5727	HP:0002708	Prominent median palatal raphe
OMIM:147250	PTCH1	5727	HP:0000612	Iris coloboma
OMIM:147250	PTCH1	5727	HP:0003196	Short nose
OMIM:147250	PTCH1	5727	HP:0001250	Seizures
OMIM:147250	PTCH1	5727	HP:0003828	Variable expressivity
OMIM:147250	PTCH1	5727	HP:0008678	Renal hypoplasia/aplasia
OMIM:147250	PTCH1	5727	HP:0000824	Growth hormone deficiency
OMIM:147250	PTCH1	5727	HP:0000830	Anterior hypopituitarism
OMIM:301201	AMBN	258	HP:0001417	X-linked inheritance
OMIM:301201	ENAM	10117	HP:0001417	X-linked inheritance
OMIM:301201	LAMB3	3914	HP:0001417	X-linked inheritance
OMIM:301201	ITGB6	3694	HP:0001417	X-linked inheritance
OMIM:615651	CLCN2	1181	HP:0001138	Optic neuropathy
OMIM:615651	CLCN2	1181	HP:0002352	Leukoencephalopathy
OMIM:615651	CLCN2	1181	HP:0000007	Autosomal recessive inheritance
OMIM:615651	CLCN2	1181	HP:0000532	Chorioretinal abnormality
OMIM:615651	CLCN2	1181	HP:0001123	Visual field defect
OMIM:615651	CLCN2	1181	HP:0002070	Limb ataxia
OMIM:615651	CLCN2	1181	HP:0002066	Gait ataxia
OMIM:615651	CLCN2	1181	HP:0002315	Headache
OMIM:259600	MMP14	4323	HP:0004322	Short stature
OMIM:259600	MMP14	4323	HP:0001482	Subcutaneous nodule
OMIM:259600	MMP14	4323	HP:0000212	Gingival overgrowth
OMIM:259600	MMP14	4323	HP:0003621	Juvenile onset
OMIM:259600	MMP14	4323	HP:0000280	Coarse facial features
OMIM:259600	MMP14	4323	HP:0008011	Peripheral opacification of the cornea
OMIM:259600	MMP14	4323	HP:0000598	Abnormality of the ear
OMIM:259600	MMP14	4323	HP:0002829	Arthralgia
OMIM:259600	MMP14	4323	HP:0001072	Thickened skin
OMIM:259600	MMP14	4323	HP:0000007	Autosomal recessive inheritance
OMIM:259600	MMP14	4323	HP:0000248	Brachycephaly
OMIM:259600	MMP14	4323	HP:0000446	Narrow nasal bridge
OMIM:259600	MMP14	4323	HP:0001171	Split hand
OMIM:259600	MMP14	4323	HP:0001761	Pes cavus
OMIM:259600	MMP14	4323	HP:0000939	Osteoporosis
OMIM:259600	MMP14	4323	HP:0001288	Gait disturbance
OMIM:259600	MMP14	4323	HP:0000327	Hypoplasia of the maxilla
OMIM:259600	MMP14	4323	HP:0000684	Delayed eruption of teeth
OMIM:259600	MMP14	4323	HP:0006466	Ankle contracture
OMIM:259600	MMP14	4323	HP:0003273	Hip contracture
OMIM:259600	MMP14	4323	HP:0001007	Hirsutism
OMIM:259600	MMP14	4323	HP:0001034	Hypermelanotic macule
OMIM:259600	MMP14	4323	HP:0000765	Abnormality of the thorax
OMIM:259600	MMP14	4323	HP:0002751	Kyphoscoliosis
OMIM:259600	MMP14	4323	HP:0000347	Micrognathia
OMIM:259600	MMP14	4323	HP:0001220	Interphalangeal joint contracture of finger
OMIM:259600	MMP14	4323	HP:0002007	Frontal bossing
OMIM:259600	MMP14	4323	HP:0000938	Osteopenia
OMIM:259600	MMP14	4323	HP:0001763	Pes planus
OMIM:259600	MMP14	4323	HP:0003493	Antinuclear antibody positivity
OMIM:259600	MMP14	4323	HP:0000414	Bulbous nose
OMIM:259600	MMP14	4323	HP:0000520	Proptosis
OMIM:259600	MMP14	4323	HP:0003593	Infantile onset
OMIM:259600	MMP14	4323	HP:0003016	Metaphyseal widening
OMIM:259600	MMP14	4323	HP:0000316	Hypertelorism
OMIM:259600	MMP2	4313	HP:0004322	Short stature
OMIM:259600	MMP2	4313	HP:0001482	Subcutaneous nodule
OMIM:259600	MMP2	4313	HP:0000212	Gingival overgrowth
OMIM:259600	MMP2	4313	HP:0003621	Juvenile onset
OMIM:259600	MMP2	4313	HP:0000280	Coarse facial features
OMIM:259600	MMP2	4313	HP:0008011	Peripheral opacification of the cornea
OMIM:259600	MMP2	4313	HP:0000598	Abnormality of the ear
OMIM:259600	MMP2	4313	HP:0002829	Arthralgia
OMIM:259600	MMP2	4313	HP:0001072	Thickened skin
OMIM:259600	MMP2	4313	HP:0000007	Autosomal recessive inheritance
OMIM:259600	MMP2	4313	HP:0000248	Brachycephaly
OMIM:259600	MMP2	4313	HP:0000446	Narrow nasal bridge
OMIM:259600	MMP2	4313	HP:0001171	Split hand
OMIM:259600	MMP2	4313	HP:0001761	Pes cavus
OMIM:259600	MMP2	4313	HP:0000939	Osteoporosis
OMIM:259600	MMP2	4313	HP:0001288	Gait disturbance
OMIM:259600	MMP2	4313	HP:0000327	Hypoplasia of the maxilla
OMIM:259600	MMP2	4313	HP:0000684	Delayed eruption of teeth
OMIM:259600	MMP2	4313	HP:0006466	Ankle contracture
OMIM:259600	MMP2	4313	HP:0003273	Hip contracture
OMIM:259600	MMP2	4313	HP:0001007	Hirsutism
OMIM:259600	MMP2	4313	HP:0001034	Hypermelanotic macule
OMIM:259600	MMP2	4313	HP:0000765	Abnormality of the thorax
OMIM:259600	MMP2	4313	HP:0002751	Kyphoscoliosis
OMIM:259600	MMP2	4313	HP:0000347	Micrognathia
OMIM:259600	MMP2	4313	HP:0001220	Interphalangeal joint contracture of finger
OMIM:259600	MMP2	4313	HP:0002007	Frontal bossing
OMIM:259600	MMP2	4313	HP:0000938	Osteopenia
OMIM:259600	MMP2	4313	HP:0001763	Pes planus
OMIM:259600	MMP2	4313	HP:0003493	Antinuclear antibody positivity
OMIM:259600	MMP2	4313	HP:0000414	Bulbous nose
OMIM:259600	MMP2	4313	HP:0000520	Proptosis
OMIM:259600	MMP2	4313	HP:0003593	Infantile onset
OMIM:259600	MMP2	4313	HP:0003016	Metaphyseal widening
OMIM:259600	MMP2	4313	HP:0000316	Hypertelorism
OMIM:615550	TSR2	90121	HP:0000006	Autosomal dominant inheritance
OMIM:615550	TSR2	90121	HP:0001199	Triphalangeal thumb
OMIM:615550	TSR2	90121	HP:0001629	Ventricular septal defect
OMIM:615550	TSR2	90121	HP:0001972	Macrocytic anemia
OMIM:615550	TSR2	90121	HP:0001896	Reticulocytopenia
OMIM:615550	RPS17	6218	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPS17	6218	HP:0001199	Triphalangeal thumb
OMIM:615550	RPS17	6218	HP:0001629	Ventricular septal defect
OMIM:615550	RPS17	6218	HP:0001972	Macrocytic anemia
OMIM:615550	RPS17	6218	HP:0001896	Reticulocytopenia
OMIM:615550	RPL26	6154	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPL26	6154	HP:0001199	Triphalangeal thumb
OMIM:615550	RPL26	6154	HP:0001629	Ventricular septal defect
OMIM:615550	RPL26	6154	HP:0001972	Macrocytic anemia
OMIM:615550	RPL26	6154	HP:0001896	Reticulocytopenia
OMIM:615550	RPL5	6125	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPL5	6125	HP:0001199	Triphalangeal thumb
OMIM:615550	RPL5	6125	HP:0001629	Ventricular septal defect
OMIM:615550	RPL5	6125	HP:0001972	Macrocytic anemia
OMIM:615550	RPL5	6125	HP:0001896	Reticulocytopenia
OMIM:615550	RPS19	6223	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPS19	6223	HP:0001199	Triphalangeal thumb
OMIM:615550	RPS19	6223	HP:0001629	Ventricular septal defect
OMIM:615550	RPS19	6223	HP:0001972	Macrocytic anemia
OMIM:615550	RPS19	6223	HP:0001896	Reticulocytopenia
OMIM:615550	RPS24	6229	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPS24	6229	HP:0001199	Triphalangeal thumb
OMIM:615550	RPS24	6229	HP:0001629	Ventricular septal defect
OMIM:615550	RPS24	6229	HP:0001972	Macrocytic anemia
OMIM:615550	RPS24	6229	HP:0001896	Reticulocytopenia
OMIM:615550	RPL35A	6165	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPL35A	6165	HP:0001199	Triphalangeal thumb
OMIM:615550	RPL35A	6165	HP:0001629	Ventricular septal defect
OMIM:615550	RPL35A	6165	HP:0001972	Macrocytic anemia
OMIM:615550	RPL35A	6165	HP:0001896	Reticulocytopenia
OMIM:615550	RPL11	6135	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPL11	6135	HP:0001199	Triphalangeal thumb
OMIM:615550	RPL11	6135	HP:0001629	Ventricular septal defect
OMIM:615550	RPL11	6135	HP:0001972	Macrocytic anemia
OMIM:615550	RPL11	6135	HP:0001896	Reticulocytopenia
OMIM:615550	RPS26	6231	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPS26	6231	HP:0001199	Triphalangeal thumb
OMIM:615550	RPS26	6231	HP:0001629	Ventricular septal defect
OMIM:615550	RPS26	6231	HP:0001972	Macrocytic anemia
OMIM:615550	RPS26	6231	HP:0001896	Reticulocytopenia
OMIM:615550	RPS7	6201	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPS7	6201	HP:0001199	Triphalangeal thumb
OMIM:615550	RPS7	6201	HP:0001629	Ventricular septal defect
OMIM:615550	RPS7	6201	HP:0001972	Macrocytic anemia
OMIM:615550	RPS7	6201	HP:0001896	Reticulocytopenia
OMIM:615550	RPL15	6138	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPL15	6138	HP:0001199	Triphalangeal thumb
OMIM:615550	RPL15	6138	HP:0001629	Ventricular septal defect
OMIM:615550	RPL15	6138	HP:0001972	Macrocytic anemia
OMIM:615550	RPL15	6138	HP:0001896	Reticulocytopenia
OMIM:615550	RPS28	6234	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPS28	6234	HP:0001199	Triphalangeal thumb
OMIM:615550	RPS28	6234	HP:0001629	Ventricular septal defect
OMIM:615550	RPS28	6234	HP:0001972	Macrocytic anemia
OMIM:615550	RPS28	6234	HP:0001896	Reticulocytopenia
OMIM:615550	RPS29	6235	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPS29	6235	HP:0001199	Triphalangeal thumb
OMIM:615550	RPS29	6235	HP:0001629	Ventricular septal defect
OMIM:615550	RPS29	6235	HP:0001972	Macrocytic anemia
OMIM:615550	RPS29	6235	HP:0001896	Reticulocytopenia
OMIM:615550	RPS10	6204	HP:0000006	Autosomal dominant inheritance
OMIM:615550	RPS10	6204	HP:0001199	Triphalangeal thumb
OMIM:615550	RPS10	6204	HP:0001629	Ventricular septal defect
OMIM:615550	RPS10	6204	HP:0001972	Macrocytic anemia
OMIM:615550	RPS10	6204	HP:0001896	Reticulocytopenia
OMIM:615550	GATA1	2623	HP:0000006	Autosomal dominant inheritance
OMIM:615550	GATA1	2623	HP:0001199	Triphalangeal thumb
OMIM:615550	GATA1	2623	HP:0001629	Ventricular septal defect
OMIM:615550	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:615550	GATA1	2623	HP:0001896	Reticulocytopenia
OMIM:616113	DMXL2	23312	HP:0001249	Intellectual disability
OMIM:616113	DMXL2	23312	HP:0004322	Short stature
OMIM:616113	DMXL2	23312	HP:0001332	Dystonia
OMIM:616113	DMXL2	23312	HP:0001730	Progressive hearing impairment
OMIM:616113	DMXL2	23312	HP:0001251	Ataxia
OMIM:616113	DMXL2	23312	HP:0011787	Central hypothyroidism
OMIM:616113	DMXL2	23312	HP:0001260	Dysarthria
OMIM:616113	DMXL2	23312	HP:0008897	Postnatal growth retardation
OMIM:616113	DMXL2	23312	HP:0001270	Motor delay
OMIM:266200	PKLR	5313	HP:0001560	Abnormality of the amniotic fluid
OMIM:266200	PKLR	5313	HP:0001744	Splenomegaly
OMIM:266200	PKLR	5313	HP:0000007	Autosomal recessive inheritance
OMIM:266200	PKLR	5313	HP:0000952	Jaundice
OMIM:266200	PKLR	5313	HP:0001923	Reticulocytosis
OMIM:266200	PKLR	5313	HP:0001081	Cholelithiasis
OMIM:266200	PKLR	5313	HP:0001511	Intrauterine growth retardation
OMIM:266200	PKLR	5313	HP:0001082	Cholecystitis
OMIM:614678	TSEN54	283989	HP:0001344	Absent speech
OMIM:614678	TSEN54	283989	HP:0011968	Feeding difficulties
OMIM:614678	TSEN54	283989	HP:0002059	Cerebral atrophy
OMIM:614678	TSEN54	283989	HP:0000253	Progressive microcephaly
OMIM:614678	TSEN54	283989	HP:0002421	Poor head control
OMIM:614678	TSEN54	283989	HP:0008936	Muscular hypotonia of the trunk
OMIM:614678	TSEN54	283989	HP:0001263	Global developmental delay
OMIM:614678	TSEN54	283989	HP:0001250	Seizures
OMIM:614678	TSEN54	283989	HP:0001257	Spasticity
OMIM:614678	TSEN54	283989	HP:0000657	Oculomotor apraxia
OMIM:614678	TSEN54	283989	HP:0003577	Congenital onset
OMIM:614678	TSEN54	283989	HP:0003202	Skeletal muscle atrophy
OMIM:614678	TSEN54	283989	HP:0000007	Autosomal recessive inheritance
OMIM:614678	TSEN54	283989	HP:0001272	Cerebellar atrophy
OMIM:614678	TSEN54	283989	HP:0000486	Strabismus
OMIM:614678	TSEN54	283989	HP:0001371	Flexion contracture
OMIM:614678	TSEN54	283989	HP:0002093	Respiratory insufficiency
OMIM:614678	TSEN54	283989	HP:0001760	Abnormality of the foot
OMIM:614678	TSEN54	283989	HP:0002827	Hip dislocation
OMIM:614678	TSEN54	283989	HP:0002350	Cerebellar cyst
OMIM:614678	TSEN54	283989	HP:0000556	Retinal dystrophy
OMIM:614678	TSEN54	283989	HP:0000639	Nystagmus
OMIM:614678	TSEN54	283989	HP:0001308	Tongue fasciculations
OMIM:614678	TSEN54	283989	HP:0001347	Hyperreflexia
OMIM:614678	TSEN54	283989	HP:0001510	Growth delay
OMIM:614678	TSEN54	283989	HP:0012473	Tongue atrophy
OMIM:614678	EXOSC3	51010	HP:0001344	Absent speech
OMIM:614678	EXOSC3	51010	HP:0011968	Feeding difficulties
OMIM:614678	EXOSC3	51010	HP:0002059	Cerebral atrophy
OMIM:614678	EXOSC3	51010	HP:0000253	Progressive microcephaly
OMIM:614678	EXOSC3	51010	HP:0002421	Poor head control
OMIM:614678	EXOSC3	51010	HP:0008936	Muscular hypotonia of the trunk
OMIM:614678	EXOSC3	51010	HP:0001263	Global developmental delay
OMIM:614678	EXOSC3	51010	HP:0001250	Seizures
OMIM:614678	EXOSC3	51010	HP:0001257	Spasticity
OMIM:614678	EXOSC3	51010	HP:0000657	Oculomotor apraxia
OMIM:614678	EXOSC3	51010	HP:0003577	Congenital onset
OMIM:614678	EXOSC3	51010	HP:0003202	Skeletal muscle atrophy
OMIM:614678	EXOSC3	51010	HP:0000007	Autosomal recessive inheritance
OMIM:614678	EXOSC3	51010	HP:0001272	Cerebellar atrophy
OMIM:614678	EXOSC3	51010	HP:0000486	Strabismus
OMIM:614678	EXOSC3	51010	HP:0001371	Flexion contracture
OMIM:614678	EXOSC3	51010	HP:0002093	Respiratory insufficiency
OMIM:614678	EXOSC3	51010	HP:0001760	Abnormality of the foot
OMIM:614678	EXOSC3	51010	HP:0002827	Hip dislocation
OMIM:614678	EXOSC3	51010	HP:0002350	Cerebellar cyst
OMIM:614678	EXOSC3	51010	HP:0000556	Retinal dystrophy
OMIM:614678	EXOSC3	51010	HP:0000639	Nystagmus
OMIM:614678	EXOSC3	51010	HP:0001308	Tongue fasciculations
OMIM:614678	EXOSC3	51010	HP:0001347	Hyperreflexia
OMIM:614678	EXOSC3	51010	HP:0001510	Growth delay
OMIM:614678	EXOSC3	51010	HP:0012473	Tongue atrophy
OMIM:614678	VRK1	7443	HP:0001344	Absent speech
OMIM:614678	VRK1	7443	HP:0011968	Feeding difficulties
OMIM:614678	VRK1	7443	HP:0002059	Cerebral atrophy
OMIM:614678	VRK1	7443	HP:0000253	Progressive microcephaly
OMIM:614678	VRK1	7443	HP:0002421	Poor head control
OMIM:614678	VRK1	7443	HP:0008936	Muscular hypotonia of the trunk
OMIM:614678	VRK1	7443	HP:0001263	Global developmental delay
OMIM:614678	VRK1	7443	HP:0001250	Seizures
OMIM:614678	VRK1	7443	HP:0001257	Spasticity
OMIM:614678	VRK1	7443	HP:0000657	Oculomotor apraxia
OMIM:614678	VRK1	7443	HP:0003577	Congenital onset
OMIM:614678	VRK1	7443	HP:0003202	Skeletal muscle atrophy
OMIM:614678	VRK1	7443	HP:0000007	Autosomal recessive inheritance
OMIM:614678	VRK1	7443	HP:0001272	Cerebellar atrophy
OMIM:614678	VRK1	7443	HP:0000486	Strabismus
OMIM:614678	VRK1	7443	HP:0001371	Flexion contracture
OMIM:614678	VRK1	7443	HP:0002093	Respiratory insufficiency
OMIM:614678	VRK1	7443	HP:0001760	Abnormality of the foot
OMIM:614678	VRK1	7443	HP:0002827	Hip dislocation
OMIM:614678	VRK1	7443	HP:0002350	Cerebellar cyst
OMIM:614678	VRK1	7443	HP:0000556	Retinal dystrophy
OMIM:614678	VRK1	7443	HP:0000639	Nystagmus
OMIM:614678	VRK1	7443	HP:0001308	Tongue fasciculations
OMIM:614678	VRK1	7443	HP:0001347	Hyperreflexia
OMIM:614678	VRK1	7443	HP:0001510	Growth delay
OMIM:614678	VRK1	7443	HP:0012473	Tongue atrophy
OMIM:614678	EXOSC8	11340	HP:0001344	Absent speech
OMIM:614678	EXOSC8	11340	HP:0011968	Feeding difficulties
OMIM:614678	EXOSC8	11340	HP:0002059	Cerebral atrophy
OMIM:614678	EXOSC8	11340	HP:0000253	Progressive microcephaly
OMIM:614678	EXOSC8	11340	HP:0002421	Poor head control
OMIM:614678	EXOSC8	11340	HP:0008936	Muscular hypotonia of the trunk
OMIM:614678	EXOSC8	11340	HP:0001263	Global developmental delay
OMIM:614678	EXOSC8	11340	HP:0001250	Seizures
OMIM:614678	EXOSC8	11340	HP:0001257	Spasticity
OMIM:614678	EXOSC8	11340	HP:0000657	Oculomotor apraxia
OMIM:614678	EXOSC8	11340	HP:0003577	Congenital onset
OMIM:614678	EXOSC8	11340	HP:0003202	Skeletal muscle atrophy
OMIM:614678	EXOSC8	11340	HP:0000007	Autosomal recessive inheritance
OMIM:614678	EXOSC8	11340	HP:0001272	Cerebellar atrophy
OMIM:614678	EXOSC8	11340	HP:0000486	Strabismus
OMIM:614678	EXOSC8	11340	HP:0001371	Flexion contracture
OMIM:614678	EXOSC8	11340	HP:0002093	Respiratory insufficiency
OMIM:614678	EXOSC8	11340	HP:0001760	Abnormality of the foot
OMIM:614678	EXOSC8	11340	HP:0002827	Hip dislocation
OMIM:614678	EXOSC8	11340	HP:0002350	Cerebellar cyst
OMIM:614678	EXOSC8	11340	HP:0000556	Retinal dystrophy
OMIM:614678	EXOSC8	11340	HP:0000639	Nystagmus
OMIM:614678	EXOSC8	11340	HP:0001308	Tongue fasciculations
OMIM:614678	EXOSC8	11340	HP:0001347	Hyperreflexia
OMIM:614678	EXOSC8	11340	HP:0001510	Growth delay
OMIM:614678	EXOSC8	11340	HP:0012473	Tongue atrophy
OMIM:614678	RARS2	57038	HP:0001344	Absent speech
OMIM:614678	RARS2	57038	HP:0011968	Feeding difficulties
OMIM:614678	RARS2	57038	HP:0002059	Cerebral atrophy
OMIM:614678	RARS2	57038	HP:0000253	Progressive microcephaly
OMIM:614678	RARS2	57038	HP:0002421	Poor head control
OMIM:614678	RARS2	57038	HP:0008936	Muscular hypotonia of the trunk
OMIM:614678	RARS2	57038	HP:0001263	Global developmental delay
OMIM:614678	RARS2	57038	HP:0001250	Seizures
OMIM:614678	RARS2	57038	HP:0001257	Spasticity
OMIM:614678	RARS2	57038	HP:0000657	Oculomotor apraxia
OMIM:614678	RARS2	57038	HP:0003577	Congenital onset
OMIM:614678	RARS2	57038	HP:0003202	Skeletal muscle atrophy
OMIM:614678	RARS2	57038	HP:0000007	Autosomal recessive inheritance
OMIM:614678	RARS2	57038	HP:0001272	Cerebellar atrophy
OMIM:614678	RARS2	57038	HP:0000486	Strabismus
OMIM:614678	RARS2	57038	HP:0001371	Flexion contracture
OMIM:614678	RARS2	57038	HP:0002093	Respiratory insufficiency
OMIM:614678	RARS2	57038	HP:0001760	Abnormality of the foot
OMIM:614678	RARS2	57038	HP:0002827	Hip dislocation
OMIM:614678	RARS2	57038	HP:0002350	Cerebellar cyst
OMIM:614678	RARS2	57038	HP:0000556	Retinal dystrophy
OMIM:614678	RARS2	57038	HP:0000639	Nystagmus
OMIM:614678	RARS2	57038	HP:0001308	Tongue fasciculations
OMIM:614678	RARS2	57038	HP:0001347	Hyperreflexia
OMIM:614678	RARS2	57038	HP:0001510	Growth delay
OMIM:614678	RARS2	57038	HP:0012473	Tongue atrophy
OMIM:128101	TUBB4A	10382	HP:0002066	Gait ataxia
OMIM:128101	TUBB4A	10382	HP:0002451	Limb dystonia
OMIM:128101	TUBB4A	10382	HP:0000006	Autosomal dominant inheritance
OMIM:128101	TUBB4A	10382	HP:0000275	Narrow face
OMIM:128101	TUBB4A	10382	HP:0001304	Torsion dystonia
OMIM:128101	TUBB4A	10382	HP:0002015	Dysphagia
OMIM:128101	TUBB4A	10382	HP:0000473	Torticollis
OMIM:128101	TUBB4A	10382	HP:0001618	Dysphonia
OMIM:102500	NOTCH2	4853	HP:0000286	Epicanthus
OMIM:102500	NOTCH2	4853	HP:0001671	Abnormality of the cardiac septa
OMIM:102500	NOTCH2	4853	HP:0001842	Acroosteolysis (feet)
OMIM:102500	NOTCH2	4853	HP:0002566	Intestinal malrotation
OMIM:102500	NOTCH2	4853	HP:0000028	Cryptorchidism
OMIM:102500	NOTCH2	4853	HP:0000107	Renal cyst
OMIM:102500	NOTCH2	4853	HP:0000047	Hypospadias
OMIM:102500	NOTCH2	4853	HP:0001388	Joint laxity
OMIM:102500	NOTCH2	4853	HP:0009748	Large earlobe
OMIM:102500	NOTCH2	4853	HP:0000218	High palate
OMIM:102500	NOTCH2	4853	HP:0000006	Autosomal dominant inheritance
OMIM:102500	NOTCH2	4853	HP:0000494	Downslanted palpebral fissures
OMIM:102500	NOTCH2	4853	HP:0002751	Kyphoscoliosis
OMIM:102500	NOTCH2	4853	HP:0000664	Synophrys
OMIM:102500	NOTCH2	4853	HP:0001007	Hirsutism
OMIM:102500	NOTCH2	4853	HP:0001643	Patent ductus arteriosus
OMIM:102500	NOTCH2	4853	HP:0000369	Low-set ears
OMIM:102500	NOTCH2	4853	HP:0001537	Umbilical hernia
OMIM:102500	NOTCH2	4853	HP:0004322	Short stature
OMIM:102500	NOTCH2	4853	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:102500	NOTCH2	4853	HP:0003083	Dislocated radial head
OMIM:102500	NOTCH2	4853	HP:0000689	Dental malocclusion
OMIM:102500	NOTCH2	4853	HP:0000463	Anteverted nares
OMIM:102500	NOTCH2	4853	HP:0000506	Telecanthus
OMIM:102500	NOTCH2	4853	HP:0000574	Thick eyebrow
OMIM:102500	NOTCH2	4853	HP:0000938	Osteopenia
OMIM:102500	NOTCH2	4853	HP:0001508	Failure to thrive
OMIM:102500	NOTCH2	4853	HP:0000347	Micrognathia
OMIM:102500	NOTCH2	4853	HP:0000293	Full cheeks
OMIM:102500	NOTCH2	4853	HP:0000238	Hydrocephalus
OMIM:102500	NOTCH2	4853	HP:0000470	Short neck
OMIM:102500	NOTCH2	4853	HP:0000527	Long eyelashes
OMIM:102500	NOTCH2	4853	HP:0002645	Wormian bones
OMIM:102500	NOTCH2	4853	HP:0000445	Wide nose
OMIM:102500	NOTCH2	4853	HP:0000280	Coarse facial features
OMIM:102500	NOTCH2	4853	HP:0000939	Osteoporosis
OMIM:102500	NOTCH2	4853	HP:0002756	Pathologic fracture
OMIM:102500	NOTCH2	4853	HP:0000405	Conductive hearing impairment
OMIM:102500	NOTCH2	4853	HP:0000343	Long philtrum
OMIM:102500	NOTCH2	4853	HP:0001799	Short nail
OMIM:102500	NOTCH2	4853	HP:0002857	Genu valgum
OMIM:102500	NOTCH2	4853	HP:0000023	Inguinal hernia
OMIM:249500	METTL23	124512	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	METTL23	124512	HP:0000486	Strabismus
OMIM:249500	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:249500	METTL23	124512	HP:0000639	Nystagmus
OMIM:249500	METTL23	124512	HP:0003487	Babinski sign
OMIM:249500	METTL23	124512	HP:0001249	Intellectual disability
OMIM:249500	CRADD	8738	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	CRADD	8738	HP:0000486	Strabismus
OMIM:249500	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:249500	CRADD	8738	HP:0000639	Nystagmus
OMIM:249500	CRADD	8738	HP:0003487	Babinski sign
OMIM:249500	CRADD	8738	HP:0001249	Intellectual disability
OMIM:249500	NSUN2	54888	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	NSUN2	54888	HP:0000486	Strabismus
OMIM:249500	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:249500	NSUN2	54888	HP:0000639	Nystagmus
OMIM:249500	NSUN2	54888	HP:0003487	Babinski sign
OMIM:249500	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:249500	FMN2	56776	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	FMN2	56776	HP:0000486	Strabismus
OMIM:249500	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:249500	FMN2	56776	HP:0000639	Nystagmus
OMIM:249500	FMN2	56776	HP:0003487	Babinski sign
OMIM:249500	FMN2	56776	HP:0001249	Intellectual disability
OMIM:249500	CLIP1	6249	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	CLIP1	6249	HP:0000486	Strabismus
OMIM:249500	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:249500	CLIP1	6249	HP:0000639	Nystagmus
OMIM:249500	CLIP1	6249	HP:0003487	Babinski sign
OMIM:249500	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:249500	ZC3H14	79882	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	ZC3H14	79882	HP:0000486	Strabismus
OMIM:249500	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:249500	ZC3H14	79882	HP:0000639	Nystagmus
OMIM:249500	ZC3H14	79882	HP:0003487	Babinski sign
OMIM:249500	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:249500	PRSS12	8492	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	PRSS12	8492	HP:0000486	Strabismus
OMIM:249500	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:249500	PRSS12	8492	HP:0000639	Nystagmus
OMIM:249500	PRSS12	8492	HP:0003487	Babinski sign
OMIM:249500	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:249500	LINS1	55180	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	LINS1	55180	HP:0000486	Strabismus
OMIM:249500	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:249500	LINS1	55180	HP:0000639	Nystagmus
OMIM:249500	LINS1	55180	HP:0003487	Babinski sign
OMIM:249500	LINS1	55180	HP:0001249	Intellectual disability
OMIM:249500	NDST1	3340	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	NDST1	3340	HP:0000486	Strabismus
OMIM:249500	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:249500	NDST1	3340	HP:0000639	Nystagmus
OMIM:249500	NDST1	3340	HP:0003487	Babinski sign
OMIM:249500	NDST1	3340	HP:0001249	Intellectual disability
OMIM:249500	CC2D1A	54862	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	CC2D1A	54862	HP:0000486	Strabismus
OMIM:249500	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:249500	CC2D1A	54862	HP:0000639	Nystagmus
OMIM:249500	CC2D1A	54862	HP:0003487	Babinski sign
OMIM:249500	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:249500	FBXO31	79791	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	FBXO31	79791	HP:0000486	Strabismus
OMIM:249500	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:249500	FBXO31	79791	HP:0000639	Nystagmus
OMIM:249500	FBXO31	79791	HP:0003487	Babinski sign
OMIM:249500	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:249500	CRBN	51185	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	CRBN	51185	HP:0000486	Strabismus
OMIM:249500	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:249500	CRBN	51185	HP:0000639	Nystagmus
OMIM:249500	CRBN	51185	HP:0003487	Babinski sign
OMIM:249500	CRBN	51185	HP:0001249	Intellectual disability
OMIM:249500	TRAPPC9	83696	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	TRAPPC9	83696	HP:0000486	Strabismus
OMIM:249500	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:249500	TRAPPC9	83696	HP:0000639	Nystagmus
OMIM:249500	TRAPPC9	83696	HP:0003487	Babinski sign
OMIM:249500	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:249500	GRIK2	2898	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	GRIK2	2898	HP:0000486	Strabismus
OMIM:249500	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:249500	GRIK2	2898	HP:0000639	Nystagmus
OMIM:249500	GRIK2	2898	HP:0003487	Babinski sign
OMIM:249500	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:249500	SLC6A17	388662	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	SLC6A17	388662	HP:0000486	Strabismus
OMIM:249500	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:249500	SLC6A17	388662	HP:0000639	Nystagmus
OMIM:249500	SLC6A17	388662	HP:0003487	Babinski sign
OMIM:249500	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:249500	TECR	9524	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	TECR	9524	HP:0000486	Strabismus
OMIM:249500	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:249500	TECR	9524	HP:0000639	Nystagmus
OMIM:249500	TECR	9524	HP:0003487	Babinski sign
OMIM:249500	TECR	9524	HP:0001249	Intellectual disability
OMIM:249500	MAN1B1	11253	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	MAN1B1	11253	HP:0000486	Strabismus
OMIM:249500	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:249500	MAN1B1	11253	HP:0000639	Nystagmus
OMIM:249500	MAN1B1	11253	HP:0003487	Babinski sign
OMIM:249500	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:249500	TUSC3	7991	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	TUSC3	7991	HP:0000486	Strabismus
OMIM:249500	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:249500	TUSC3	7991	HP:0000639	Nystagmus
OMIM:249500	TUSC3	7991	HP:0003487	Babinski sign
OMIM:249500	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:249500	ST3GAL3	6487	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	ST3GAL3	6487	HP:0000486	Strabismus
OMIM:249500	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:249500	ST3GAL3	6487	HP:0000639	Nystagmus
OMIM:249500	ST3GAL3	6487	HP:0003487	Babinski sign
OMIM:249500	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:249500	EDC3	80153	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	EDC3	80153	HP:0000486	Strabismus
OMIM:249500	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:249500	EDC3	80153	HP:0000639	Nystagmus
OMIM:249500	EDC3	80153	HP:0003487	Babinski sign
OMIM:249500	EDC3	80153	HP:0001249	Intellectual disability
OMIM:249500	MED13L	23389	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	MED13L	23389	HP:0000486	Strabismus
OMIM:249500	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:249500	MED13L	23389	HP:0000639	Nystagmus
OMIM:249500	MED13L	23389	HP:0003487	Babinski sign
OMIM:249500	MED13L	23389	HP:0001249	Intellectual disability
OMIM:249500	KIAA1033	23325	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	KIAA1033	23325	HP:0000486	Strabismus
OMIM:249500	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:249500	KIAA1033	23325	HP:0000639	Nystagmus
OMIM:249500	KIAA1033	23325	HP:0003487	Babinski sign
OMIM:249500	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:249500	MED23	9439	HP:0006801	Hyperactive deep tendon reflexes
OMIM:249500	MED23	9439	HP:0000486	Strabismus
OMIM:249500	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:249500	MED23	9439	HP:0000639	Nystagmus
OMIM:249500	MED23	9439	HP:0003487	Babinski sign
OMIM:249500	MED23	9439	HP:0001249	Intellectual disability
OMIM:615159	UQCRQ	27089	HP:0002305	Athetosis
OMIM:615159	UQCRQ	27089	HP:0001347	Hyperreflexia
OMIM:615159	UQCRQ	27089	HP:0001263	Global developmental delay
OMIM:615159	UQCRQ	27089	HP:0001249	Intellectual disability
OMIM:615159	UQCRQ	27089	HP:0001332	Dystonia
OMIM:615159	UQCRQ	27089	HP:0000007	Autosomal recessive inheritance
OMIM:615159	UQCRQ	27089	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615159	UQCRQ	27089	HP:0002151	Increased serum lactate
OMIM:615159	UQCRQ	27089	HP:0001252	Muscular hypotonia
OMIM:615159	UQCRQ	27089	HP:0001344	Absent speech
OMIM:615159	UQCRQ	27089	HP:0001251	Ataxia
OMIM:615159	CYC1	1537	HP:0002305	Athetosis
OMIM:615159	CYC1	1537	HP:0001347	Hyperreflexia
OMIM:615159	CYC1	1537	HP:0001263	Global developmental delay
OMIM:615159	CYC1	1537	HP:0001249	Intellectual disability
OMIM:615159	CYC1	1537	HP:0001332	Dystonia
OMIM:615159	CYC1	1537	HP:0000007	Autosomal recessive inheritance
OMIM:615159	CYC1	1537	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615159	CYC1	1537	HP:0002151	Increased serum lactate
OMIM:615159	CYC1	1537	HP:0001252	Muscular hypotonia
OMIM:615159	CYC1	1537	HP:0001344	Absent speech
OMIM:615159	CYC1	1537	HP:0001251	Ataxia
OMIM:615159	LYRM7	90624	HP:0002305	Athetosis
OMIM:615159	LYRM7	90624	HP:0001347	Hyperreflexia
OMIM:615159	LYRM7	90624	HP:0001263	Global developmental delay
OMIM:615159	LYRM7	90624	HP:0001249	Intellectual disability
OMIM:615159	LYRM7	90624	HP:0001332	Dystonia
OMIM:615159	LYRM7	90624	HP:0000007	Autosomal recessive inheritance
OMIM:615159	LYRM7	90624	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615159	LYRM7	90624	HP:0002151	Increased serum lactate
OMIM:615159	LYRM7	90624	HP:0001252	Muscular hypotonia
OMIM:615159	LYRM7	90624	HP:0001344	Absent speech
OMIM:615159	LYRM7	90624	HP:0001251	Ataxia
OMIM:615159	UQCRB	7381	HP:0002305	Athetosis
OMIM:615159	UQCRB	7381	HP:0001347	Hyperreflexia
OMIM:615159	UQCRB	7381	HP:0001263	Global developmental delay
OMIM:615159	UQCRB	7381	HP:0001249	Intellectual disability
OMIM:615159	UQCRB	7381	HP:0001332	Dystonia
OMIM:615159	UQCRB	7381	HP:0000007	Autosomal recessive inheritance
OMIM:615159	UQCRB	7381	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615159	UQCRB	7381	HP:0002151	Increased serum lactate
OMIM:615159	UQCRB	7381	HP:0001252	Muscular hypotonia
OMIM:615159	UQCRB	7381	HP:0001344	Absent speech
OMIM:615159	UQCRB	7381	HP:0001251	Ataxia
OMIM:615159	TTC19	54902	HP:0002305	Athetosis
OMIM:615159	TTC19	54902	HP:0001347	Hyperreflexia
OMIM:615159	TTC19	54902	HP:0001263	Global developmental delay
OMIM:615159	TTC19	54902	HP:0001249	Intellectual disability
OMIM:615159	TTC19	54902	HP:0001332	Dystonia
OMIM:615159	TTC19	54902	HP:0000007	Autosomal recessive inheritance
OMIM:615159	TTC19	54902	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615159	TTC19	54902	HP:0002151	Increased serum lactate
OMIM:615159	TTC19	54902	HP:0001252	Muscular hypotonia
OMIM:615159	TTC19	54902	HP:0001344	Absent speech
OMIM:615159	TTC19	54902	HP:0001251	Ataxia
OMIM:615159	CYTB	4519	HP:0002305	Athetosis
OMIM:615159	CYTB	4519	HP:0001347	Hyperreflexia
OMIM:615159	CYTB	4519	HP:0001263	Global developmental delay
OMIM:615159	CYTB	4519	HP:0001249	Intellectual disability
OMIM:615159	CYTB	4519	HP:0001332	Dystonia
OMIM:615159	CYTB	4519	HP:0000007	Autosomal recessive inheritance
OMIM:615159	CYTB	4519	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615159	CYTB	4519	HP:0002151	Increased serum lactate
OMIM:615159	CYTB	4519	HP:0001252	Muscular hypotonia
OMIM:615159	CYTB	4519	HP:0001344	Absent speech
OMIM:615159	CYTB	4519	HP:0001251	Ataxia
OMIM:615159	UQCC3	790955	HP:0002305	Athetosis
OMIM:615159	UQCC3	790955	HP:0001347	Hyperreflexia
OMIM:615159	UQCC3	790955	HP:0001263	Global developmental delay
OMIM:615159	UQCC3	790955	HP:0001249	Intellectual disability
OMIM:615159	UQCC3	790955	HP:0001332	Dystonia
OMIM:615159	UQCC3	790955	HP:0000007	Autosomal recessive inheritance
OMIM:615159	UQCC3	790955	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615159	UQCC3	790955	HP:0002151	Increased serum lactate
OMIM:615159	UQCC3	790955	HP:0001252	Muscular hypotonia
OMIM:615159	UQCC3	790955	HP:0001344	Absent speech
OMIM:615159	UQCC3	790955	HP:0001251	Ataxia
OMIM:615159	BCS1L	617	HP:0002305	Athetosis
OMIM:615159	BCS1L	617	HP:0001347	Hyperreflexia
OMIM:615159	BCS1L	617	HP:0001263	Global developmental delay
OMIM:615159	BCS1L	617	HP:0001249	Intellectual disability
OMIM:615159	BCS1L	617	HP:0001332	Dystonia
OMIM:615159	BCS1L	617	HP:0000007	Autosomal recessive inheritance
OMIM:615159	BCS1L	617	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615159	BCS1L	617	HP:0002151	Increased serum lactate
OMIM:615159	BCS1L	617	HP:0001252	Muscular hypotonia
OMIM:615159	BCS1L	617	HP:0001344	Absent speech
OMIM:615159	BCS1L	617	HP:0001251	Ataxia
OMIM:615159	UQCRC2	7385	HP:0002305	Athetosis
OMIM:615159	UQCRC2	7385	HP:0001347	Hyperreflexia
OMIM:615159	UQCRC2	7385	HP:0001263	Global developmental delay
OMIM:615159	UQCRC2	7385	HP:0001249	Intellectual disability
OMIM:615159	UQCRC2	7385	HP:0001332	Dystonia
OMIM:615159	UQCRC2	7385	HP:0000007	Autosomal recessive inheritance
OMIM:615159	UQCRC2	7385	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615159	UQCRC2	7385	HP:0002151	Increased serum lactate
OMIM:615159	UQCRC2	7385	HP:0001252	Muscular hypotonia
OMIM:615159	UQCRC2	7385	HP:0001344	Absent speech
OMIM:615159	UQCRC2	7385	HP:0001251	Ataxia
OMIM:615159	UQCC2	84300	HP:0002305	Athetosis
OMIM:615159	UQCC2	84300	HP:0001347	Hyperreflexia
OMIM:615159	UQCC2	84300	HP:0001263	Global developmental delay
OMIM:615159	UQCC2	84300	HP:0001249	Intellectual disability
OMIM:615159	UQCC2	84300	HP:0001332	Dystonia
OMIM:615159	UQCC2	84300	HP:0000007	Autosomal recessive inheritance
OMIM:615159	UQCC2	84300	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615159	UQCC2	84300	HP:0002151	Increased serum lactate
OMIM:615159	UQCC2	84300	HP:0001252	Muscular hypotonia
OMIM:615159	UQCC2	84300	HP:0001344	Absent speech
OMIM:615159	UQCC2	84300	HP:0001251	Ataxia
OMIM:616489	IGF2	3481	HP:0001270	Motor delay
OMIM:616489	IGF2	3481	HP:0000047	Hypospadias
OMIM:616489	IGF2	3481	HP:0008872	Feeding difficulties in infancy
OMIM:616489	IGF2	3481	HP:0000028	Cryptorchidism
OMIM:616489	IGF2	3481	HP:0002750	Delayed skeletal maturation
OMIM:616489	IGF2	3481	HP:0001252	Muscular hypotonia
OMIM:616489	IGF2	3481	HP:0000369	Low-set ears
OMIM:616489	IGF2	3481	HP:0001643	Patent ductus arteriosus
OMIM:616489	IGF2	3481	HP:0004325	Decreased body weight
OMIM:616489	IGF2	3481	HP:0000995	Melanocytic nevus
OMIM:616489	IGF2	3481	HP:0000325	Triangular face
OMIM:616489	IGF2	3481	HP:0004322	Short stature
OMIM:616489	IGF2	3481	HP:0000062	Ambiguous genitalia
OMIM:616489	IGF2	3481	HP:0004482	Relative macrocephaly
OMIM:616489	IGF2	3481	HP:0011220	Prominent forehead
OMIM:300707	FAM58A	92002	HP:0001103	Abnormality of the macula
OMIM:300707	FAM58A	92002	HP:0000008	Abnormality of female internal genitalia
OMIM:300707	FAM58A	92002	HP:0001250	Seizures
OMIM:300707	FAM58A	92002	HP:0004122	Midline defect of the nose
OMIM:300707	FAM58A	92002	HP:0000083	Renal insufficiency
OMIM:300707	FAM58A	92002	HP:0001770	Toe syndactyly
OMIM:300707	FAM58A	92002	HP:0010458	Female pseudohermaphroditism
OMIM:300707	FAM58A	92002	HP:0000625	Cleft eyelid
OMIM:300707	FAM58A	92002	HP:0008678	Renal hypoplasia/aplasia
OMIM:300707	FAM58A	92002	HP:0100589	Urogenital fistula
OMIM:300707	FAM58A	92002	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:300707	FAM58A	92002	HP:0100542	Abnormal localization of kidney
OMIM:300707	FAM58A	92002	HP:0001671	Abnormality of the cardiac septa
OMIM:300707	FAM58A	92002	HP:0001646	Abnormality of the aortic valve
OMIM:300707	FAM58A	92002	HP:0000233	Thin vermilion border
OMIM:300707	FAM58A	92002	HP:0000532	Chorioretinal abnormality
OMIM:300707	FAM58A	92002	HP:0000545	Myopia
OMIM:300707	FAM58A	92002	HP:0001718	Mitral stenosis
OMIM:300707	FAM58A	92002	HP:0004322	Short stature
OMIM:300707	FAM58A	92002	HP:0004209	Clinodactyly of the 5th finger
OMIM:300707	FAM58A	92002	HP:0004414	Abnormality of the pulmonary artery
OMIM:300707	FAM58A	92002	HP:0000076	Vesicoureteral reflux
OMIM:300707	FAM58A	92002	HP:0000506	Telecanthus
OMIM:300707	FAM58A	92002	HP:0008572	External ear malformation
OMIM:108370	ASNS	440	HP:0001250	Seizures
OMIM:108370	ASNS	440	HP:0003217	Hyperglutaminemia
OMIM:108370	ASNS	440	HP:0002059	Cerebral atrophy
OMIM:108370	ASNS	440	HP:0000006	Autosomal dominant inheritance
OMIM:108370	ASNS	440	HP:0001257	Spasticity
OMIM:108370	ASNS	440	HP:0001249	Intellectual disability
OMIM:108370	ASNS	440	HP:0012448	Delayed myelination
OMIM:108370	ASNS	440	HP:0008936	Muscular hypotonia of the trunk
OMIM:108370	ASNS	440	HP:0011451	Congenital microcephaly
ORPHANET:100	ATM	472	HP:0001288	Gait disturbance
ORPHANET:100	ATM	472	HP:0005374	Cellular immunodeficiency
ORPHANET:100	ATM	472	HP:0002216	Premature graying of hair
ORPHANET:100	ATM	472	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:100	ATM	472	HP:0000486	Strabismus
ORPHANET:100	ATM	472	HP:0000957	Cafe-au-lait spot
ORPHANET:100	ATM	472	HP:0002664	Neoplasm
ORPHANET:100	ATM	472	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:100	ATM	472	HP:0004313	Decreased antibody level in blood
ORPHANET:100	ATM	472	HP:0100543	Cognitive impairment
ORPHANET:100	ATM	472	HP:0001276	Hypertonia
ORPHANET:100	ATM	472	HP:0005599	Hypopigmentation of hair
ORPHANET:100	ATM	472	HP:0001250	Seizures
ORPHANET:100	ATM	472	HP:0002311	Incoordination
ORPHANET:100	ATM	472	HP:0000147	Polycystic ovaries
ORPHANET:100	ATM	472	HP:0003220	Abnormality of chromosome stability
ORPHANET:100	ATM	472	HP:0002167	Neurological speech impairment
ORPHANET:100	ATM	472	HP:0001337	Tremor
ORPHANET:100	ATM	472	HP:0005978	Type II diabetes mellitus
ORPHANET:100	ATM	472	HP:0002205	Recurrent respiratory infections
ORPHANET:100	ATM	472	HP:0004322	Short stature
ORPHANET:100	ATM	472	HP:0000035	Abnormality of the testis
ORPHANET:100	ATM	472	HP:0000639	Nystagmus
ORPHANET:100	ATM	472	HP:0003202	Skeletal muscle atrophy
ORPHANET:100	ATM	472	HP:0002910	Elevated hepatic transaminases
ORPHANET:100	ATM	472	HP:0100585	Telangiectasia of the skin
OMIM:607426	COQ2	27235	HP:0001903	Anemia
OMIM:607426	COQ2	27235	HP:0001251	Ataxia
OMIM:607426	COQ2	27235	HP:0001876	Pancytopenia
OMIM:607426	COQ2	27235	HP:0000639	Nystagmus
OMIM:607426	COQ2	27235	HP:0001272	Cerebellar atrophy
OMIM:607426	COQ2	27235	HP:0001260	Dysarthria
OMIM:607426	COQ2	27235	HP:0000100	Nephrotic syndrome
OMIM:607426	COQ2	27235	HP:0003128	Lactic acidosis
OMIM:607426	COQ2	27235	HP:0000510	Rod-cone dystrophy
OMIM:607426	COQ2	27235	HP:0001250	Seizures
OMIM:607426	COQ2	27235	HP:0001328	Specific learning disability
OMIM:607426	COQ2	27235	HP:0000572	Visual loss
OMIM:607426	COQ2	27235	HP:0003812	Phenotypic variability
OMIM:607426	COQ2	27235	HP:0001399	Hepatic failure
OMIM:607426	COQ2	27235	HP:0003674	Onset
OMIM:607426	COQ2	27235	HP:0000815	Hypergonadotropic hypogonadism
OMIM:607426	COQ2	27235	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607426	COQ2	27235	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607426	COQ2	27235	HP:0001270	Motor delay
OMIM:607426	COQ2	27235	HP:0000007	Autosomal recessive inheritance
OMIM:607426	COQ2	27235	HP:0000096	Glomerulosclerosis
OMIM:607426	COQ2	27235	HP:0000407	Sensorineural hearing impairment
OMIM:607426	COQ2	27235	HP:0001298	Encephalopathy
OMIM:607426	COQ2	27235	HP:0002172	Postural instability
OMIM:607426	COQ2	27235	HP:0001249	Intellectual disability
OMIM:607426	PDSS2	57107	HP:0001903	Anemia
OMIM:607426	PDSS2	57107	HP:0001251	Ataxia
OMIM:607426	PDSS2	57107	HP:0001876	Pancytopenia
OMIM:607426	PDSS2	57107	HP:0000639	Nystagmus
OMIM:607426	PDSS2	57107	HP:0001272	Cerebellar atrophy
OMIM:607426	PDSS2	57107	HP:0001260	Dysarthria
OMIM:607426	PDSS2	57107	HP:0000100	Nephrotic syndrome
OMIM:607426	PDSS2	57107	HP:0003128	Lactic acidosis
OMIM:607426	PDSS2	57107	HP:0000510	Rod-cone dystrophy
OMIM:607426	PDSS2	57107	HP:0001250	Seizures
OMIM:607426	PDSS2	57107	HP:0001328	Specific learning disability
OMIM:607426	PDSS2	57107	HP:0000572	Visual loss
OMIM:607426	PDSS2	57107	HP:0003812	Phenotypic variability
OMIM:607426	PDSS2	57107	HP:0001399	Hepatic failure
OMIM:607426	PDSS2	57107	HP:0003674	Onset
OMIM:607426	PDSS2	57107	HP:0000815	Hypergonadotropic hypogonadism
OMIM:607426	PDSS2	57107	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607426	PDSS2	57107	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607426	PDSS2	57107	HP:0001270	Motor delay
OMIM:607426	PDSS2	57107	HP:0000007	Autosomal recessive inheritance
OMIM:607426	PDSS2	57107	HP:0000096	Glomerulosclerosis
OMIM:607426	PDSS2	57107	HP:0000407	Sensorineural hearing impairment
OMIM:607426	PDSS2	57107	HP:0001298	Encephalopathy
OMIM:607426	PDSS2	57107	HP:0002172	Postural instability
OMIM:607426	PDSS2	57107	HP:0001249	Intellectual disability
OMIM:248390	TCOF1	6949	HP:0000272	Malar flattening
OMIM:248390	TCOF1	6949	HP:0000347	Micrognathia
OMIM:248390	TCOF1	6949	HP:0000494	Downslanted palpebral fissures
OMIM:248390	TCOF1	6949	HP:0000007	Autosomal recessive inheritance
OMIM:248390	TCOF1	6949	HP:0000356	Abnormality of the outer ear
OMIM:248390	TCOF1	6949	HP:0000175	Cleft palate
OMIM:248390	POLR1D	51082	HP:0000272	Malar flattening
OMIM:248390	POLR1D	51082	HP:0000347	Micrognathia
OMIM:248390	POLR1D	51082	HP:0000494	Downslanted palpebral fissures
OMIM:248390	POLR1D	51082	HP:0000007	Autosomal recessive inheritance
OMIM:248390	POLR1D	51082	HP:0000356	Abnormality of the outer ear
OMIM:248390	POLR1D	51082	HP:0000175	Cleft palate
OMIM:248390	POLR1C	9533	HP:0000272	Malar flattening
OMIM:248390	POLR1C	9533	HP:0000347	Micrognathia
OMIM:248390	POLR1C	9533	HP:0000494	Downslanted palpebral fissures
OMIM:248390	POLR1C	9533	HP:0000007	Autosomal recessive inheritance
OMIM:248390	POLR1C	9533	HP:0000356	Abnormality of the outer ear
OMIM:248390	POLR1C	9533	HP:0000175	Cleft palate
OMIM:600974	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:600974	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:600974	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:600974	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:600974	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:600974	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:600974	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:600974	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:600974	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:600974	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:600974	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:600974	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:600974	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:600974	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:600974	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:600974	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:600974	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:600974	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:600974	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:600974	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:600974	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:600974	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:600974	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:600974	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:600974	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:600974	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:600974	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:600974	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:600974	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:600974	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:600974	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:600974	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:600974	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:600974	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:600974	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:600974	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:600974	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:600974	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:600974	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:600974	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:600974	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:600974	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:600974	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:600974	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:600974	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:600974	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:600974	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:600974	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:600974	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:600974	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:600974	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:600974	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:600974	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:600974	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:600974	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:600974	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:600974	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:600974	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:600974	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:600974	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:600974	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:600974	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:600974	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:600974	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:600974	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:600974	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:600974	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:600974	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:600974	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:600974	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:600974	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:600974	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:600974	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:600974	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:600974	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:600974	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:600974	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:600974	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:600974	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:600974	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:600974	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:600974	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:600974	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:600974	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:600974	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:600974	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:600974	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:600974	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:600974	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:600974	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:600974	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:600974	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:600974	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:600974	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:600974	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:600974	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:600974	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:600974	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:600974	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:600974	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:600974	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:600974	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:600974	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:600974	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:600974	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:600974	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:600974	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:600974	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:600974	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:600974	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:600974	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:600974	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:600974	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:600974	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:600974	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:600974	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:600974	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:600974	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:600974	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:600974	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:615833	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:615833	KCNB1	3745	HP:0011968	Feeding difficulties
OMIM:615833	KCNB1	3745	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	KCNB1	3745	HP:0001263	Global developmental delay
OMIM:615833	KCNB1	3745	HP:0001558	Decreased fetal movement
OMIM:615833	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:615833	PIGQ	9091	HP:0011968	Feeding difficulties
OMIM:615833	PIGQ	9091	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	PIGQ	9091	HP:0001263	Global developmental delay
OMIM:615833	PIGQ	9091	HP:0001558	Decreased fetal movement
OMIM:615833	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:615833	SLC25A22	79751	HP:0011968	Feeding difficulties
OMIM:615833	SLC25A22	79751	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	SLC25A22	79751	HP:0001263	Global developmental delay
OMIM:615833	SLC25A22	79751	HP:0001558	Decreased fetal movement
OMIM:615833	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:615833	CDKL5	6792	HP:0011968	Feeding difficulties
OMIM:615833	CDKL5	6792	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:615833	CDKL5	6792	HP:0001558	Decreased fetal movement
OMIM:615833	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:615833	KCNQ2	3785	HP:0011968	Feeding difficulties
OMIM:615833	KCNQ2	3785	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:615833	KCNQ2	3785	HP:0001558	Decreased fetal movement
OMIM:615833	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:615833	SLC13A5	284111	HP:0011968	Feeding difficulties
OMIM:615833	SLC13A5	284111	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	SLC13A5	284111	HP:0001263	Global developmental delay
OMIM:615833	SLC13A5	284111	HP:0001558	Decreased fetal movement
OMIM:615833	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:615833	SIK1	150094	HP:0011968	Feeding difficulties
OMIM:615833	SIK1	150094	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	SIK1	150094	HP:0001263	Global developmental delay
OMIM:615833	SIK1	150094	HP:0001558	Decreased fetal movement
OMIM:615833	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:615833	HCN1	348980	HP:0011968	Feeding difficulties
OMIM:615833	HCN1	348980	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	HCN1	348980	HP:0001263	Global developmental delay
OMIM:615833	HCN1	348980	HP:0001558	Decreased fetal movement
OMIM:615833	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:615833	PNKP	11284	HP:0011968	Feeding difficulties
OMIM:615833	PNKP	11284	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	PNKP	11284	HP:0001263	Global developmental delay
OMIM:615833	PNKP	11284	HP:0001558	Decreased fetal movement
OMIM:615833	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:615833	SCN2A	6326	HP:0011968	Feeding difficulties
OMIM:615833	SCN2A	6326	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:615833	SCN2A	6326	HP:0001558	Decreased fetal movement
OMIM:615833	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:615833	GNAO1	2775	HP:0011968	Feeding difficulties
OMIM:615833	GNAO1	2775	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	GNAO1	2775	HP:0001263	Global developmental delay
OMIM:615833	GNAO1	2775	HP:0001558	Decreased fetal movement
OMIM:615833	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:615833	NECAP1	25977	HP:0011968	Feeding difficulties
OMIM:615833	NECAP1	25977	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	NECAP1	25977	HP:0001263	Global developmental delay
OMIM:615833	NECAP1	25977	HP:0001558	Decreased fetal movement
OMIM:615833	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:615833	ARX	170302	HP:0011968	Feeding difficulties
OMIM:615833	ARX	170302	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	ARX	170302	HP:0001263	Global developmental delay
OMIM:615833	ARX	170302	HP:0001558	Decreased fetal movement
OMIM:615833	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:615833	STXBP1	6812	HP:0011968	Feeding difficulties
OMIM:615833	STXBP1	6812	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:615833	STXBP1	6812	HP:0001558	Decreased fetal movement
OMIM:615833	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:615833	WWOX	51741	HP:0011968	Feeding difficulties
OMIM:615833	WWOX	51741	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	WWOX	51741	HP:0001263	Global developmental delay
OMIM:615833	WWOX	51741	HP:0001558	Decreased fetal movement
OMIM:615833	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:615833	CASK	8573	HP:0011968	Feeding difficulties
OMIM:615833	CASK	8573	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	CASK	8573	HP:0001263	Global developmental delay
OMIM:615833	CASK	8573	HP:0001558	Decreased fetal movement
OMIM:615833	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:615833	SCN8A	6334	HP:0011968	Feeding difficulties
OMIM:615833	SCN8A	6334	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	SCN8A	6334	HP:0001263	Global developmental delay
OMIM:615833	SCN8A	6334	HP:0001558	Decreased fetal movement
OMIM:615833	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:615833	DNM1	1759	HP:0011968	Feeding difficulties
OMIM:615833	DNM1	1759	HP:0008936	Muscular hypotonia of the trunk
OMIM:615833	DNM1	1759	HP:0001263	Global developmental delay
OMIM:615833	DNM1	1759	HP:0001558	Decreased fetal movement
OMIM:600845	P2RX1	5023	HP:0000967	Petechiae
OMIM:600845	P2RX1	5023	HP:0001428	Somatic mutation
OMIM:600845	P2RX1	5023	HP:0000978	Bruising susceptibility
OMIM:614170	ZNF469	84627	HP:0001288	Gait disturbance
OMIM:614170	ZNF469	84627	HP:0000007	Autosomal recessive inheritance
OMIM:614170	ZNF469	84627	HP:0000365	Hearing impairment
OMIM:614170	ZNF469	84627	HP:0000023	Inguinal hernia
OMIM:614170	ZNF469	84627	HP:0000485	Megalocornea
OMIM:614170	ZNF469	84627	HP:0000592	Blue sclerae
OMIM:614170	ZNF469	84627	HP:0000545	Myopia
OMIM:614170	ZNF469	84627	HP:0000647	Sclerocornea
OMIM:614170	ZNF469	84627	HP:0007720	Flat cornea
OMIM:614170	ZNF469	84627	HP:0003326	Myalgia
OMIM:614170	ZNF469	84627	HP:0002757	Recurrent fractures
OMIM:614170	ZNF469	84627	HP:0000563	Keratoconus
OMIM:614170	ZNF469	84627	HP:0001537	Umbilical hernia
OMIM:614170	PRDM5	11107	HP:0001288	Gait disturbance
OMIM:614170	PRDM5	11107	HP:0000007	Autosomal recessive inheritance
OMIM:614170	PRDM5	11107	HP:0000365	Hearing impairment
OMIM:614170	PRDM5	11107	HP:0000023	Inguinal hernia
OMIM:614170	PRDM5	11107	HP:0000485	Megalocornea
OMIM:614170	PRDM5	11107	HP:0000592	Blue sclerae
OMIM:614170	PRDM5	11107	HP:0000545	Myopia
OMIM:614170	PRDM5	11107	HP:0000647	Sclerocornea
OMIM:614170	PRDM5	11107	HP:0007720	Flat cornea
OMIM:614170	PRDM5	11107	HP:0003326	Myalgia
OMIM:614170	PRDM5	11107	HP:0002757	Recurrent fractures
OMIM:614170	PRDM5	11107	HP:0000563	Keratoconus
OMIM:614170	PRDM5	11107	HP:0001537	Umbilical hernia
OMIM:615979	METTL23	124512	HP:0000336	Prominent supraorbital ridges
OMIM:615979	METTL23	124512	HP:0001249	Intellectual disability
OMIM:615979	METTL23	124512	HP:0000490	Deeply set eye
OMIM:615979	METTL23	124512	HP:0000431	Wide nasal bridge
OMIM:615979	METTL23	124512	HP:0000574	Thick eyebrow
OMIM:615979	METTL23	124512	HP:0000280	Coarse facial features
OMIM:615979	CRADD	8738	HP:0000336	Prominent supraorbital ridges
OMIM:615979	CRADD	8738	HP:0001249	Intellectual disability
OMIM:615979	CRADD	8738	HP:0000490	Deeply set eye
OMIM:615979	CRADD	8738	HP:0000431	Wide nasal bridge
OMIM:615979	CRADD	8738	HP:0000574	Thick eyebrow
OMIM:615979	CRADD	8738	HP:0000280	Coarse facial features
OMIM:615979	NSUN2	54888	HP:0000336	Prominent supraorbital ridges
OMIM:615979	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:615979	NSUN2	54888	HP:0000490	Deeply set eye
OMIM:615979	NSUN2	54888	HP:0000431	Wide nasal bridge
OMIM:615979	NSUN2	54888	HP:0000574	Thick eyebrow
OMIM:615979	NSUN2	54888	HP:0000280	Coarse facial features
OMIM:615979	FMN2	56776	HP:0000336	Prominent supraorbital ridges
OMIM:615979	FMN2	56776	HP:0001249	Intellectual disability
OMIM:615979	FMN2	56776	HP:0000490	Deeply set eye
OMIM:615979	FMN2	56776	HP:0000431	Wide nasal bridge
OMIM:615979	FMN2	56776	HP:0000574	Thick eyebrow
OMIM:615979	FMN2	56776	HP:0000280	Coarse facial features
OMIM:615979	CLIP1	6249	HP:0000336	Prominent supraorbital ridges
OMIM:615979	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:615979	CLIP1	6249	HP:0000490	Deeply set eye
OMIM:615979	CLIP1	6249	HP:0000431	Wide nasal bridge
OMIM:615979	CLIP1	6249	HP:0000574	Thick eyebrow
OMIM:615979	CLIP1	6249	HP:0000280	Coarse facial features
OMIM:615979	ZC3H14	79882	HP:0000336	Prominent supraorbital ridges
OMIM:615979	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:615979	ZC3H14	79882	HP:0000490	Deeply set eye
OMIM:615979	ZC3H14	79882	HP:0000431	Wide nasal bridge
OMIM:615979	ZC3H14	79882	HP:0000574	Thick eyebrow
OMIM:615979	ZC3H14	79882	HP:0000280	Coarse facial features
OMIM:615979	PRSS12	8492	HP:0000336	Prominent supraorbital ridges
OMIM:615979	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:615979	PRSS12	8492	HP:0000490	Deeply set eye
OMIM:615979	PRSS12	8492	HP:0000431	Wide nasal bridge
OMIM:615979	PRSS12	8492	HP:0000574	Thick eyebrow
OMIM:615979	PRSS12	8492	HP:0000280	Coarse facial features
OMIM:615979	LINS1	55180	HP:0000336	Prominent supraorbital ridges
OMIM:615979	LINS1	55180	HP:0001249	Intellectual disability
OMIM:615979	LINS1	55180	HP:0000490	Deeply set eye
OMIM:615979	LINS1	55180	HP:0000431	Wide nasal bridge
OMIM:615979	LINS1	55180	HP:0000574	Thick eyebrow
OMIM:615979	LINS1	55180	HP:0000280	Coarse facial features
OMIM:615979	NDST1	3340	HP:0000336	Prominent supraorbital ridges
OMIM:615979	NDST1	3340	HP:0001249	Intellectual disability
OMIM:615979	NDST1	3340	HP:0000490	Deeply set eye
OMIM:615979	NDST1	3340	HP:0000431	Wide nasal bridge
OMIM:615979	NDST1	3340	HP:0000574	Thick eyebrow
OMIM:615979	NDST1	3340	HP:0000280	Coarse facial features
OMIM:615979	FBXO31	79791	HP:0000336	Prominent supraorbital ridges
OMIM:615979	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:615979	FBXO31	79791	HP:0000490	Deeply set eye
OMIM:615979	FBXO31	79791	HP:0000431	Wide nasal bridge
OMIM:615979	FBXO31	79791	HP:0000574	Thick eyebrow
OMIM:615979	FBXO31	79791	HP:0000280	Coarse facial features
OMIM:615979	CC2D1A	54862	HP:0000336	Prominent supraorbital ridges
OMIM:615979	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:615979	CC2D1A	54862	HP:0000490	Deeply set eye
OMIM:615979	CC2D1A	54862	HP:0000431	Wide nasal bridge
OMIM:615979	CC2D1A	54862	HP:0000574	Thick eyebrow
OMIM:615979	CC2D1A	54862	HP:0000280	Coarse facial features
OMIM:615979	CRBN	51185	HP:0000336	Prominent supraorbital ridges
OMIM:615979	CRBN	51185	HP:0001249	Intellectual disability
OMIM:615979	CRBN	51185	HP:0000490	Deeply set eye
OMIM:615979	CRBN	51185	HP:0000431	Wide nasal bridge
OMIM:615979	CRBN	51185	HP:0000574	Thick eyebrow
OMIM:615979	CRBN	51185	HP:0000280	Coarse facial features
OMIM:615979	TRAPPC9	83696	HP:0000336	Prominent supraorbital ridges
OMIM:615979	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:615979	TRAPPC9	83696	HP:0000490	Deeply set eye
OMIM:615979	TRAPPC9	83696	HP:0000431	Wide nasal bridge
OMIM:615979	TRAPPC9	83696	HP:0000574	Thick eyebrow
OMIM:615979	TRAPPC9	83696	HP:0000280	Coarse facial features
OMIM:615979	GRIK2	2898	HP:0000336	Prominent supraorbital ridges
OMIM:615979	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:615979	GRIK2	2898	HP:0000490	Deeply set eye
OMIM:615979	GRIK2	2898	HP:0000431	Wide nasal bridge
OMIM:615979	GRIK2	2898	HP:0000574	Thick eyebrow
OMIM:615979	GRIK2	2898	HP:0000280	Coarse facial features
OMIM:615979	SLC6A17	388662	HP:0000336	Prominent supraorbital ridges
OMIM:615979	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:615979	SLC6A17	388662	HP:0000490	Deeply set eye
OMIM:615979	SLC6A17	388662	HP:0000431	Wide nasal bridge
OMIM:615979	SLC6A17	388662	HP:0000574	Thick eyebrow
OMIM:615979	SLC6A17	388662	HP:0000280	Coarse facial features
OMIM:615979	TECR	9524	HP:0000336	Prominent supraorbital ridges
OMIM:615979	TECR	9524	HP:0001249	Intellectual disability
OMIM:615979	TECR	9524	HP:0000490	Deeply set eye
OMIM:615979	TECR	9524	HP:0000431	Wide nasal bridge
OMIM:615979	TECR	9524	HP:0000574	Thick eyebrow
OMIM:615979	TECR	9524	HP:0000280	Coarse facial features
OMIM:615979	MAN1B1	11253	HP:0000336	Prominent supraorbital ridges
OMIM:615979	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:615979	MAN1B1	11253	HP:0000490	Deeply set eye
OMIM:615979	MAN1B1	11253	HP:0000431	Wide nasal bridge
OMIM:615979	MAN1B1	11253	HP:0000574	Thick eyebrow
OMIM:615979	MAN1B1	11253	HP:0000280	Coarse facial features
OMIM:615979	TUSC3	7991	HP:0000336	Prominent supraorbital ridges
OMIM:615979	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:615979	TUSC3	7991	HP:0000490	Deeply set eye
OMIM:615979	TUSC3	7991	HP:0000431	Wide nasal bridge
OMIM:615979	TUSC3	7991	HP:0000574	Thick eyebrow
OMIM:615979	TUSC3	7991	HP:0000280	Coarse facial features
OMIM:615979	ST3GAL3	6487	HP:0000336	Prominent supraorbital ridges
OMIM:615979	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:615979	ST3GAL3	6487	HP:0000490	Deeply set eye
OMIM:615979	ST3GAL3	6487	HP:0000431	Wide nasal bridge
OMIM:615979	ST3GAL3	6487	HP:0000574	Thick eyebrow
OMIM:615979	ST3GAL3	6487	HP:0000280	Coarse facial features
OMIM:615979	EDC3	80153	HP:0000336	Prominent supraorbital ridges
OMIM:615979	EDC3	80153	HP:0001249	Intellectual disability
OMIM:615979	EDC3	80153	HP:0000490	Deeply set eye
OMIM:615979	EDC3	80153	HP:0000431	Wide nasal bridge
OMIM:615979	EDC3	80153	HP:0000574	Thick eyebrow
OMIM:615979	EDC3	80153	HP:0000280	Coarse facial features
OMIM:615979	MED13L	23389	HP:0000336	Prominent supraorbital ridges
OMIM:615979	MED13L	23389	HP:0001249	Intellectual disability
OMIM:615979	MED13L	23389	HP:0000490	Deeply set eye
OMIM:615979	MED13L	23389	HP:0000431	Wide nasal bridge
OMIM:615979	MED13L	23389	HP:0000574	Thick eyebrow
OMIM:615979	MED13L	23389	HP:0000280	Coarse facial features
OMIM:615979	KIAA1033	23325	HP:0000336	Prominent supraorbital ridges
OMIM:615979	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:615979	KIAA1033	23325	HP:0000490	Deeply set eye
OMIM:615979	KIAA1033	23325	HP:0000431	Wide nasal bridge
OMIM:615979	KIAA1033	23325	HP:0000574	Thick eyebrow
OMIM:615979	KIAA1033	23325	HP:0000280	Coarse facial features
OMIM:615979	MED23	9439	HP:0000336	Prominent supraorbital ridges
OMIM:615979	MED23	9439	HP:0001249	Intellectual disability
OMIM:615979	MED23	9439	HP:0000490	Deeply set eye
OMIM:615979	MED23	9439	HP:0000431	Wide nasal bridge
OMIM:615979	MED23	9439	HP:0000574	Thick eyebrow
OMIM:615979	MED23	9439	HP:0000280	Coarse facial features
OMIM:604757	MSX2	4488	HP:0002007	Frontal bossing
OMIM:604757	MSX2	4488	HP:0001250	Seizures
OMIM:604757	MSX2	4488	HP:0003468	Abnormality of the vertebrae
OMIM:604757	MSX2	4488	HP:0000545	Myopia
OMIM:604757	MSX2	4488	HP:0001199	Triphalangeal thumb
OMIM:604757	MSX2	4488	HP:0001363	Craniosynostosis
OMIM:604757	MSX2	4488	HP:0000175	Cleft palate
OMIM:604757	MSX2	4488	HP:0009891	Underdeveloped supraorbital ridges
OMIM:606482	DNM2	1785	HP:0001761	Pes cavus
OMIM:606482	DNM2	1785	HP:0000006	Autosomal dominant inheritance
OMIM:606482	DNM2	1785	HP:0001284	Areflexia
OMIM:606482	DNM2	1785	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:606482	DNM2	1785	HP:0003693	Distal amyotrophy
OMIM:606482	DNM2	1785	HP:0003621	Juvenile onset
OMIM:606482	DNM2	1785	HP:0003383	Onion bulb formation
OMIM:606482	DNM2	1785	HP:0001265	Hyporeflexia
OMIM:606482	DNM2	1785	HP:0002936	Distal sensory impairment
OMIM:606482	DNM2	1785	HP:0002460	Distal muscle weakness
OMIM:606482	DNM2	1785	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:615188	CRYAA	1409	HP:0000519	Congenital cataract
OMIM:615188	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:615188	CRYAB	1410	HP:0000519	Congenital cataract
OMIM:615188	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:615188	CRYBA1	1411	HP:0000519	Congenital cataract
OMIM:615188	CRYBA1	1411	HP:0000006	Autosomal dominant inheritance
OMIM:615188	HSF4	3299	HP:0000519	Congenital cataract
OMIM:615188	HSF4	3299	HP:0000006	Autosomal dominant inheritance
OMIM:615188	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:615188	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:615188	CRYBA4	1413	HP:0000519	Congenital cataract
OMIM:615188	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:615188	AGK	55750	HP:0000519	Congenital cataract
OMIM:615188	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:615188	CRYBB2	1415	HP:0000519	Congenital cataract
OMIM:615188	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:615188	CRYBB3	1417	HP:0000519	Congenital cataract
OMIM:615188	CRYBB3	1417	HP:0000006	Autosomal dominant inheritance
OMIM:615188	NHS	4810	HP:0000519	Congenital cataract
OMIM:615188	NHS	4810	HP:0000006	Autosomal dominant inheritance
OMIM:615188	CRYGB	1419	HP:0000519	Congenital cataract
OMIM:615188	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:615188	CRYGC	1420	HP:0000519	Congenital cataract
OMIM:615188	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:615188	LSS	4047	HP:0000519	Congenital cataract
OMIM:615188	LSS	4047	HP:0000006	Autosomal dominant inheritance
OMIM:615188	EPHA2	1969	HP:0000519	Congenital cataract
OMIM:615188	EPHA2	1969	HP:0000006	Autosomal dominant inheritance
OMIM:615188	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:615188	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:615188	MIP	4284	HP:0000519	Congenital cataract
OMIM:615188	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:605253	MPZ	4359	HP:0000007	Autosomal recessive inheritance
OMIM:605253	MPZ	4359	HP:0001319	Neonatal hypotonia
OMIM:605253	MPZ	4359	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605253	MPZ	4359	HP:0003577	Congenital onset
OMIM:605253	MPZ	4359	HP:0007182	Peripheral hypomyelination
OMIM:605253	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:605253	MPZ	4359	HP:0003383	Onion bulb formation
OMIM:605253	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:605253	MPZ	4359	HP:0001270	Motor delay
OMIM:605253	MPZ	4359	HP:0001284	Areflexia
OMIM:605253	MPZ	4359	HP:0009830	Peripheral neuropathy
OMIM:605253	MPZ	4359	HP:0001291	Abnormality of the cranial nerves
OMIM:605253	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:605253	EGR2	1959	HP:0000007	Autosomal recessive inheritance
OMIM:605253	EGR2	1959	HP:0001319	Neonatal hypotonia
OMIM:605253	EGR2	1959	HP:0003431	Decreased motor nerve conduction velocity
OMIM:605253	EGR2	1959	HP:0003577	Congenital onset
OMIM:605253	EGR2	1959	HP:0007182	Peripheral hypomyelination
OMIM:605253	EGR2	1959	HP:0002460	Distal muscle weakness
OMIM:605253	EGR2	1959	HP:0003383	Onion bulb formation
OMIM:605253	EGR2	1959	HP:0003693	Distal amyotrophy
OMIM:605253	EGR2	1959	HP:0001270	Motor delay
OMIM:605253	EGR2	1959	HP:0001284	Areflexia
OMIM:605253	EGR2	1959	HP:0009830	Peripheral neuropathy
OMIM:605253	EGR2	1959	HP:0001291	Abnormality of the cranial nerves
OMIM:605253	EGR2	1959	HP:0000006	Autosomal dominant inheritance
OMIM:275400	PNPLA6	10908	HP:0000684	Delayed eruption of teeth
OMIM:275400	PNPLA6	10908	HP:0002213	Fine hair
OMIM:275400	PNPLA6	10908	HP:0003510	Severe short stature
OMIM:275400	PNPLA6	10908	HP:0003477	Peripheral axonal neuropathy
OMIM:275400	PNPLA6	10908	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:275400	PNPLA6	10908	HP:0100543	Cognitive impairment
OMIM:275400	PNPLA6	10908	HP:0001518	Small for gestational age
OMIM:275400	PNPLA6	10908	HP:0000762	Decreased nerve conduction velocity
OMIM:275400	PNPLA6	10908	HP:0000078	Abnormality of the genital system
OMIM:275400	PNPLA6	10908	HP:0000028	Cryptorchidism
OMIM:275400	PNPLA6	10908	HP:0000574	Thick eyebrow
OMIM:275400	PNPLA6	10908	HP:0003693	Distal amyotrophy
OMIM:275400	PNPLA6	10908	HP:0001249	Intellectual disability
OMIM:275400	PNPLA6	10908	HP:0002750	Delayed skeletal maturation
OMIM:275400	PNPLA6	10908	HP:0000824	Growth hormone deficiency
OMIM:275400	PNPLA6	10908	HP:0001100	Heterochromia iridis
OMIM:275400	PNPLA6	10908	HP:0000269	Prominent occiput
OMIM:275400	PNPLA6	10908	HP:0000639	Nystagmus
OMIM:275400	PNPLA6	10908	HP:0002460	Distal muscle weakness
OMIM:275400	PNPLA6	10908	HP:0008736	Hypoplasia of penis
OMIM:275400	PNPLA6	10908	HP:0000664	Synophrys
OMIM:275400	PNPLA6	10908	HP:0001146	Pigmentary retinal degeneration
OMIM:275400	PNPLA6	10908	HP:0002007	Frontal bossing
OMIM:275400	PNPLA6	10908	HP:0004523	Long eyebrows
OMIM:275400	PNPLA6	10908	HP:0001511	Intrauterine growth retardation
OMIM:275400	PNPLA6	10908	HP:0001956	Truncal obesity
OMIM:275400	PNPLA6	10908	HP:0000527	Long eyelashes
OMIM:275400	PNPLA6	10908	HP:0007703	Abnormality of retinal pigmentation
OMIM:275400	PNPLA6	10908	HP:0000499	Abnormality of the eyelashes
OMIM:275400	PNPLA6	10908	HP:0000007	Autosomal recessive inheritance
OMIM:275400	PNPLA6	10908	HP:0000505	Visual impairment
OMIM:275400	PNPLA6	10908	HP:0000830	Anterior hypopituitarism
OMIM:608641	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:608641	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:608641	DIAPH1	1729	HP:0003676	Progressive
OMIM:608641	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:608641	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:608641	CEACAM16	388551	HP:0003676	Progressive
OMIM:608641	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:608641	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:608641	SLC17A8	246213	HP:0003676	Progressive
OMIM:608641	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:608641	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:608641	TJP2	9414	HP:0003676	Progressive
OMIM:608641	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:608641	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:608641	ACTG1	71	HP:0003676	Progressive
OMIM:608641	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:608641	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:608641	CCDC50	152137	HP:0003676	Progressive
OMIM:608641	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:608641	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:608641	MIR96	407053	HP:0003676	Progressive
OMIM:608641	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:608641	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:608641	GJB2	2706	HP:0003676	Progressive
OMIM:608641	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:608641	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:608641	POU4F3	5459	HP:0003676	Progressive
OMIM:608641	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:608641	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:608641	GJB3	2707	HP:0003676	Progressive
OMIM:608641	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:608641	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:608641	MYH9	4627	HP:0003676	Progressive
OMIM:608641	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:608641	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:608641	CRYM	1428	HP:0003676	Progressive
OMIM:608641	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:608641	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:608641	COL11A2	1302	HP:0003676	Progressive
OMIM:608641	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:608641	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:608641	EYA4	2070	HP:0003676	Progressive
OMIM:608641	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:608641	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:608641	DFNA5	1687	HP:0003676	Progressive
OMIM:608641	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:608641	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:608641	DIAPH3	81624	HP:0003676	Progressive
OMIM:608641	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:608641	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:608641	TMC1	117531	HP:0003676	Progressive
OMIM:608641	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:608641	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:608641	COCH	1690	HP:0003676	Progressive
OMIM:608641	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:608641	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:608641	OSBPL2	9885	HP:0003676	Progressive
OMIM:608641	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:608641	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:608641	SIX1	6495	HP:0003676	Progressive
OMIM:608641	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:608641	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:608641	TECTA	7007	HP:0003676	Progressive
OMIM:608641	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:608641	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:608641	MYO1A	4640	HP:0003676	Progressive
OMIM:608641	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:608641	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:608641	MYO1C	4641	HP:0003676	Progressive
OMIM:608641	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:608641	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:608641	MYO6	4646	HP:0003676	Progressive
OMIM:608641	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:608641	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:608641	MYO7A	4647	HP:0003676	Progressive
OMIM:608641	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:608641	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:608641	GRHL2	79977	HP:0003676	Progressive
OMIM:608641	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:608641	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:608641	DIABLO	56616	HP:0003676	Progressive
OMIM:608641	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:608641	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:608641	MYH14	79784	HP:0003676	Progressive
OMIM:608641	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:608641	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:608641	P2RX2	22953	HP:0003676	Progressive
OMIM:608641	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:608641	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:608641	WFS1	7466	HP:0003676	Progressive
OMIM:608641	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:608641	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:608641	TNC	3371	HP:0003676	Progressive
OMIM:608641	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:608641	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:608641	KCNQ4	9132	HP:0003676	Progressive
OMIM:608641	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:608641	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:608641	HOMER2	9455	HP:0003676	Progressive
OMIM:608641	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:608641	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:608641	GJB6	10804	HP:0003676	Progressive
OMIM:608641	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:608641	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:608641	TBC1D24	57465	HP:0003676	Progressive
OMIM:111700	RHCE	6006	HP:0000007	Autosomal recessive inheritance
OMIM:615042	DPM2	8818	HP:0000486	Strabismus
OMIM:615042	DPM2	8818	HP:0005484	Postnatal microcephaly
OMIM:615042	DPM2	8818	HP:0002803	Congenital contracture
OMIM:615042	DPM2	8818	HP:0000347	Micrognathia
OMIM:615042	DPM2	8818	HP:0002650	Scoliosis
OMIM:615042	DPM2	8818	HP:0006829	Severe muscular hypotonia
OMIM:615042	DPM2	8818	HP:0000218	High palate
OMIM:615042	DPM2	8818	HP:0000007	Autosomal recessive inheritance
OMIM:615042	DPM2	8818	HP:0001263	Global developmental delay
OMIM:615042	DPM2	8818	HP:0000219	Thin upper lip vermilion
OMIM:615042	DPM2	8818	HP:0001321	Cerebellar hypoplasia
OMIM:615042	DPM2	8818	HP:0001250	Seizures
OMIM:615042	DPM2	8818	HP:0003196	Short nose
OMIM:615042	DPM2	8818	HP:0000648	Optic atrophy
OMIM:615042	DPM2	8818	HP:0000601	Hypotelorism
OMIM:615042	DPM2	8818	HP:0003577	Congenital onset
OMIM:615042	DPM2	8818	HP:0011968	Feeding difficulties
OMIM:615042	DPM2	8818	HP:0001522	Death in infancy
OMIM:615042	DPM2	8818	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612953	PLA2G6	8398	HP:0001347	Hyperreflexia
OMIM:612953	PLA2G6	8398	HP:0000718	Aggressive behavior
OMIM:612953	PLA2G6	8398	HP:0002067	Bradykinesia
OMIM:612953	PLA2G6	8398	HP:0001300	Parkinsonism
OMIM:612953	PLA2G6	8398	HP:0001337	Tremor
OMIM:612953	PLA2G6	8398	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612953	PLA2G6	8398	HP:0003678	Rapidly progressive
OMIM:612953	PLA2G6	8398	HP:0002063	Rigidity
OMIM:612953	PLA2G6	8398	HP:0001268	Mental deterioration
OMIM:612953	PLA2G6	8398	HP:0001260	Dysarthria
OMIM:612953	PLA2G6	8398	HP:0000007	Autosomal recessive inheritance
OMIM:612953	PLA2G6	8398	HP:0001257	Spasticity
OMIM:612953	PLA2G6	8398	HP:0001332	Dystonia
OMIM:612953	PLA2G6	8398	HP:0002172	Postural instability
OMIM:615696	POFUT1	23509	HP:0000006	Autosomal dominant inheritance
OMIM:615696	POGLUT1	56983	HP:0000006	Autosomal dominant inheritance
OMIM:615696	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:158000	KRT83	3889	HP:0000962	Hyperkeratosis
OMIM:158000	KRT83	3889	HP:0001250	Seizures
OMIM:158000	KRT83	3889	HP:0100543	Cognitive impairment
OMIM:158000	KRT83	3889	HP:0000534	Abnormality of the eyebrow
OMIM:158000	KRT83	3889	HP:0001596	Alopecia
OMIM:158000	KRT83	3889	HP:0003828	Variable expressivity
OMIM:158000	KRT83	3889	HP:0000708	Behavioral abnormality
OMIM:158000	KRT83	3889	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:158000	KRT83	3889	HP:0002213	Fine hair
OMIM:158000	KRT83	3889	HP:0003593	Infantile onset
OMIM:158000	KRT83	3889	HP:0000164	Abnormality of the teeth
OMIM:158000	KRT83	3889	HP:0008404	Nail dystrophy
OMIM:158000	KRT83	3889	HP:0000518	Cataract
OMIM:158000	KRT83	3889	HP:0000006	Autosomal dominant inheritance
OMIM:158000	KRT83	3889	HP:0002299	Brittle hair
OMIM:158000	KRT83	3889	HP:0002164	Nail dysplasia
OMIM:158000	KRT83	3889	HP:0002217	Slow-growing hair
OMIM:158000	DSG4	147409	HP:0000962	Hyperkeratosis
OMIM:158000	DSG4	147409	HP:0001250	Seizures
OMIM:158000	DSG4	147409	HP:0100543	Cognitive impairment
OMIM:158000	DSG4	147409	HP:0000534	Abnormality of the eyebrow
OMIM:158000	DSG4	147409	HP:0001596	Alopecia
OMIM:158000	DSG4	147409	HP:0003828	Variable expressivity
OMIM:158000	DSG4	147409	HP:0000708	Behavioral abnormality
OMIM:158000	DSG4	147409	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:158000	DSG4	147409	HP:0002213	Fine hair
OMIM:158000	DSG4	147409	HP:0003593	Infantile onset
OMIM:158000	DSG4	147409	HP:0000164	Abnormality of the teeth
OMIM:158000	DSG4	147409	HP:0008404	Nail dystrophy
OMIM:158000	DSG4	147409	HP:0000518	Cataract
OMIM:158000	DSG4	147409	HP:0000006	Autosomal dominant inheritance
OMIM:158000	DSG4	147409	HP:0002299	Brittle hair
OMIM:158000	DSG4	147409	HP:0002164	Nail dysplasia
OMIM:158000	DSG4	147409	HP:0002217	Slow-growing hair
OMIM:158000	KRT86	3892	HP:0000962	Hyperkeratosis
OMIM:158000	KRT86	3892	HP:0001250	Seizures
OMIM:158000	KRT86	3892	HP:0100543	Cognitive impairment
OMIM:158000	KRT86	3892	HP:0000534	Abnormality of the eyebrow
OMIM:158000	KRT86	3892	HP:0001596	Alopecia
OMIM:158000	KRT86	3892	HP:0003828	Variable expressivity
OMIM:158000	KRT86	3892	HP:0000708	Behavioral abnormality
OMIM:158000	KRT86	3892	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:158000	KRT86	3892	HP:0002213	Fine hair
OMIM:158000	KRT86	3892	HP:0003593	Infantile onset
OMIM:158000	KRT86	3892	HP:0000164	Abnormality of the teeth
OMIM:158000	KRT86	3892	HP:0008404	Nail dystrophy
OMIM:158000	KRT86	3892	HP:0000518	Cataract
OMIM:158000	KRT86	3892	HP:0000006	Autosomal dominant inheritance
OMIM:158000	KRT86	3892	HP:0002299	Brittle hair
OMIM:158000	KRT86	3892	HP:0002164	Nail dysplasia
OMIM:158000	KRT86	3892	HP:0002217	Slow-growing hair
OMIM:158000	KRT81	3887	HP:0000962	Hyperkeratosis
OMIM:158000	KRT81	3887	HP:0001250	Seizures
OMIM:158000	KRT81	3887	HP:0100543	Cognitive impairment
OMIM:158000	KRT81	3887	HP:0000534	Abnormality of the eyebrow
OMIM:158000	KRT81	3887	HP:0001596	Alopecia
OMIM:158000	KRT81	3887	HP:0003828	Variable expressivity
OMIM:158000	KRT81	3887	HP:0000708	Behavioral abnormality
OMIM:158000	KRT81	3887	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:158000	KRT81	3887	HP:0002213	Fine hair
OMIM:158000	KRT81	3887	HP:0003593	Infantile onset
OMIM:158000	KRT81	3887	HP:0000164	Abnormality of the teeth
OMIM:158000	KRT81	3887	HP:0008404	Nail dystrophy
OMIM:158000	KRT81	3887	HP:0000518	Cataract
OMIM:158000	KRT81	3887	HP:0000006	Autosomal dominant inheritance
OMIM:158000	KRT81	3887	HP:0002299	Brittle hair
OMIM:158000	KRT81	3887	HP:0002164	Nail dysplasia
OMIM:158000	KRT81	3887	HP:0002217	Slow-growing hair
OMIM:612838	SCN10A	6336	HP:0011710	Bundle branch block
OMIM:612838	SCN10A	6336	HP:0000006	Autosomal dominant inheritance
OMIM:612838	SCN10A	6336	HP:0001663	Ventricular fibrillation
OMIM:612838	SCN10A	6336	HP:0012251	ST segment elevation
OMIM:612838	GPD1L	23171	HP:0011710	Bundle branch block
OMIM:612838	GPD1L	23171	HP:0000006	Autosomal dominant inheritance
OMIM:612838	GPD1L	23171	HP:0001663	Ventricular fibrillation
OMIM:612838	GPD1L	23171	HP:0012251	ST segment elevation
OMIM:612838	HCN4	10021	HP:0011710	Bundle branch block
OMIM:612838	HCN4	10021	HP:0000006	Autosomal dominant inheritance
OMIM:612838	HCN4	10021	HP:0001663	Ventricular fibrillation
OMIM:612838	HCN4	10021	HP:0012251	ST segment elevation
OMIM:612838	CACNA1C	775	HP:0011710	Bundle branch block
OMIM:612838	CACNA1C	775	HP:0000006	Autosomal dominant inheritance
OMIM:612838	CACNA1C	775	HP:0001663	Ventricular fibrillation
OMIM:612838	CACNA1C	775	HP:0012251	ST segment elevation
OMIM:612838	KCND3	3752	HP:0011710	Bundle branch block
OMIM:612838	KCND3	3752	HP:0000006	Autosomal dominant inheritance
OMIM:612838	KCND3	3752	HP:0001663	Ventricular fibrillation
OMIM:612838	KCND3	3752	HP:0012251	ST segment elevation
OMIM:612838	NKX2-5	1482	HP:0011710	Bundle branch block
OMIM:612838	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:612838	NKX2-5	1482	HP:0001663	Ventricular fibrillation
OMIM:612838	NKX2-5	1482	HP:0012251	ST segment elevation
OMIM:612838	TRPM4	54795	HP:0011710	Bundle branch block
OMIM:612838	TRPM4	54795	HP:0000006	Autosomal dominant inheritance
OMIM:612838	TRPM4	54795	HP:0001663	Ventricular fibrillation
OMIM:612838	TRPM4	54795	HP:0012251	ST segment elevation
OMIM:612838	CACNA2D1	781	HP:0011710	Bundle branch block
OMIM:612838	CACNA2D1	781	HP:0000006	Autosomal dominant inheritance
OMIM:612838	CACNA2D1	781	HP:0001663	Ventricular fibrillation
OMIM:612838	CACNA2D1	781	HP:0012251	ST segment elevation
OMIM:612838	CACNB2	783	HP:0011710	Bundle branch block
OMIM:612838	CACNB2	783	HP:0000006	Autosomal dominant inheritance
OMIM:612838	CACNB2	783	HP:0001663	Ventricular fibrillation
OMIM:612838	CACNB2	783	HP:0012251	ST segment elevation
OMIM:612838	SCN1B	6324	HP:0011710	Bundle branch block
OMIM:612838	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:612838	SCN1B	6324	HP:0001663	Ventricular fibrillation
OMIM:612838	SCN1B	6324	HP:0012251	ST segment elevation
OMIM:612838	KCNJ8	3764	HP:0011710	Bundle branch block
OMIM:612838	KCNJ8	3764	HP:0000006	Autosomal dominant inheritance
OMIM:612838	KCNJ8	3764	HP:0001663	Ventricular fibrillation
OMIM:612838	KCNJ8	3764	HP:0012251	ST segment elevation
OMIM:612838	KCNE3	10008	HP:0011710	Bundle branch block
OMIM:612838	KCNE3	10008	HP:0000006	Autosomal dominant inheritance
OMIM:612838	KCNE3	10008	HP:0001663	Ventricular fibrillation
OMIM:612838	KCNE3	10008	HP:0012251	ST segment elevation
OMIM:612838	SCN3B	55800	HP:0011710	Bundle branch block
OMIM:612838	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:612838	SCN3B	55800	HP:0001663	Ventricular fibrillation
OMIM:612838	SCN3B	55800	HP:0012251	ST segment elevation
OMIM:612838	SCN5A	6331	HP:0011710	Bundle branch block
OMIM:612838	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:612838	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:612838	SCN5A	6331	HP:0012251	ST segment elevation
OMIM:612838	SLMAP	7871	HP:0011710	Bundle branch block
OMIM:612838	SLMAP	7871	HP:0000006	Autosomal dominant inheritance
OMIM:612838	SLMAP	7871	HP:0001663	Ventricular fibrillation
OMIM:612838	SLMAP	7871	HP:0012251	ST segment elevation
OMIM:615073	GNAL	2774	HP:0000473	Torticollis
OMIM:615073	GNAL	2774	HP:0002451	Limb dystonia
OMIM:615073	GNAL	2774	HP:0000006	Autosomal dominant inheritance
OMIM:612119	TREH	11181	HP:0002014	Diarrhea
OMIM:612119	TREH	11181	HP:0000007	Autosomal recessive inheritance
OMIM:609889	RAG1	5896	HP:0001878	Hemolytic anemia
OMIM:609889	RAG1	5896	HP:0001874	Abnormality of neutrophils
OMIM:609889	RAG1	5896	HP:0002960	Autoimmunity
OMIM:609889	RAG1	5896	HP:0001744	Splenomegaly
OMIM:609889	RAG1	5896	HP:0005374	Cellular immunodeficiency
OMIM:609889	RAG1	5896	HP:0004430	Severe combined immunodeficiency
OMIM:609889	RAG1	5896	HP:0100806	Sepsis
OMIM:185000	RHAG	6005	HP:0001878	Hemolytic anemia
OMIM:185000	RHAG	6005	HP:0000006	Autosomal dominant inheritance
OMIM:185000	STOM	2040	HP:0001878	Hemolytic anemia
OMIM:185000	STOM	2040	HP:0000006	Autosomal dominant inheritance
OMIM:615665	OFD1	8481	HP:0001162	Postaxial hand polydactyly
OMIM:615665	OFD1	8481	HP:0002419	Molar tooth sign on MRI
OMIM:615665	OFD1	8481	HP:0000568	Microphthalmia
OMIM:615665	OFD1	8481	HP:0001999	Abnormal facial shape
OMIM:615665	OFD1	8481	HP:0001159	Syndactyly
OMIM:615665	OFD1	8481	HP:0000589	Coloboma
OMIM:615665	OFD1	8481	HP:0001263	Global developmental delay
OMIM:615665	OFD1	8481	HP:0001511	Intrauterine growth retardation
OMIM:615665	OFD1	8481	HP:0000089	Renal hypoplasia
OMIM:615665	OFD1	8481	HP:0000550	Undetectable electroretinogram
OMIM:615665	OFD1	8481	HP:0007973	Retinal dysplasia
OMIM:615665	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615665	C5ORF42	65250	HP:0001162	Postaxial hand polydactyly
OMIM:615665	C5ORF42	65250	HP:0002419	Molar tooth sign on MRI
OMIM:615665	C5ORF42	65250	HP:0000568	Microphthalmia
OMIM:615665	C5ORF42	65250	HP:0001999	Abnormal facial shape
OMIM:615665	C5ORF42	65250	HP:0001159	Syndactyly
OMIM:615665	C5ORF42	65250	HP:0000589	Coloboma
OMIM:615665	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:615665	C5ORF42	65250	HP:0001511	Intrauterine growth retardation
OMIM:615665	C5ORF42	65250	HP:0000089	Renal hypoplasia
OMIM:615665	C5ORF42	65250	HP:0000550	Undetectable electroretinogram
OMIM:615665	C5ORF42	65250	HP:0007973	Retinal dysplasia
OMIM:615665	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:615665	PDE6D	5147	HP:0001162	Postaxial hand polydactyly
OMIM:615665	PDE6D	5147	HP:0002419	Molar tooth sign on MRI
OMIM:615665	PDE6D	5147	HP:0000568	Microphthalmia
OMIM:615665	PDE6D	5147	HP:0001999	Abnormal facial shape
OMIM:615665	PDE6D	5147	HP:0001159	Syndactyly
OMIM:615665	PDE6D	5147	HP:0000589	Coloboma
OMIM:615665	PDE6D	5147	HP:0001263	Global developmental delay
OMIM:615665	PDE6D	5147	HP:0001511	Intrauterine growth retardation
OMIM:615665	PDE6D	5147	HP:0000089	Renal hypoplasia
OMIM:615665	PDE6D	5147	HP:0000550	Undetectable electroretinogram
OMIM:615665	PDE6D	5147	HP:0007973	Retinal dysplasia
OMIM:615665	PDE6D	5147	HP:0000007	Autosomal recessive inheritance
OMIM:615665	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:615665	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
OMIM:615665	TMEM216	51259	HP:0000568	Microphthalmia
OMIM:615665	TMEM216	51259	HP:0001999	Abnormal facial shape
OMIM:615665	TMEM216	51259	HP:0001159	Syndactyly
OMIM:615665	TMEM216	51259	HP:0000589	Coloboma
OMIM:615665	TMEM216	51259	HP:0001263	Global developmental delay
OMIM:615665	TMEM216	51259	HP:0001511	Intrauterine growth retardation
OMIM:615665	TMEM216	51259	HP:0000089	Renal hypoplasia
OMIM:615665	TMEM216	51259	HP:0000550	Undetectable electroretinogram
OMIM:615665	TMEM216	51259	HP:0007973	Retinal dysplasia
OMIM:615665	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:615665	KIF7	374654	HP:0001162	Postaxial hand polydactyly
OMIM:615665	KIF7	374654	HP:0002419	Molar tooth sign on MRI
OMIM:615665	KIF7	374654	HP:0000568	Microphthalmia
OMIM:615665	KIF7	374654	HP:0001999	Abnormal facial shape
OMIM:615665	KIF7	374654	HP:0001159	Syndactyly
OMIM:615665	KIF7	374654	HP:0000589	Coloboma
OMIM:615665	KIF7	374654	HP:0001263	Global developmental delay
OMIM:615665	KIF7	374654	HP:0001511	Intrauterine growth retardation
OMIM:615665	KIF7	374654	HP:0000089	Renal hypoplasia
OMIM:615665	KIF7	374654	HP:0000550	Undetectable electroretinogram
OMIM:615665	KIF7	374654	HP:0007973	Retinal dysplasia
OMIM:615665	KIF7	374654	HP:0000007	Autosomal recessive inheritance
OMIM:615665	TCTN3	26123	HP:0001162	Postaxial hand polydactyly
OMIM:615665	TCTN3	26123	HP:0002419	Molar tooth sign on MRI
OMIM:615665	TCTN3	26123	HP:0000568	Microphthalmia
OMIM:615665	TCTN3	26123	HP:0001999	Abnormal facial shape
OMIM:615665	TCTN3	26123	HP:0001159	Syndactyly
OMIM:615665	TCTN3	26123	HP:0000589	Coloboma
OMIM:615665	TCTN3	26123	HP:0001263	Global developmental delay
OMIM:615665	TCTN3	26123	HP:0001511	Intrauterine growth retardation
OMIM:615665	TCTN3	26123	HP:0000089	Renal hypoplasia
OMIM:615665	TCTN3	26123	HP:0000550	Undetectable electroretinogram
OMIM:615665	TCTN3	26123	HP:0007973	Retinal dysplasia
OMIM:615665	TCTN3	26123	HP:0000007	Autosomal recessive inheritance
OMIM:606324	PACRG	135138	HP:0002063	Rigidity
OMIM:606324	PACRG	135138	HP:0002067	Bradykinesia
OMIM:606324	PACRG	135138	HP:0000739	Anxiety
OMIM:606324	PACRG	135138	HP:0003581	Adult onset
OMIM:606324	PACRG	135138	HP:0000643	Blepharospasm
OMIM:606324	PACRG	135138	HP:0000007	Autosomal recessive inheritance
OMIM:606324	PACRG	135138	HP:0003677	Slow progression
OMIM:606324	UCHL1	7345	HP:0002063	Rigidity
OMIM:606324	UCHL1	7345	HP:0002067	Bradykinesia
OMIM:606324	UCHL1	7345	HP:0000739	Anxiety
OMIM:606324	UCHL1	7345	HP:0003581	Adult onset
OMIM:606324	UCHL1	7345	HP:0000643	Blepharospasm
OMIM:606324	UCHL1	7345	HP:0000007	Autosomal recessive inheritance
OMIM:606324	UCHL1	7345	HP:0003677	Slow progression
OMIM:606324	PARK7	11315	HP:0002063	Rigidity
OMIM:606324	PARK7	11315	HP:0002067	Bradykinesia
OMIM:606324	PARK7	11315	HP:0000739	Anxiety
OMIM:606324	PARK7	11315	HP:0003581	Adult onset
OMIM:606324	PARK7	11315	HP:0000643	Blepharospasm
OMIM:606324	PARK7	11315	HP:0000007	Autosomal recessive inheritance
OMIM:606324	PARK7	11315	HP:0003677	Slow progression
OMIM:606324	HTRA2	27429	HP:0002063	Rigidity
OMIM:606324	HTRA2	27429	HP:0002067	Bradykinesia
OMIM:606324	HTRA2	27429	HP:0000739	Anxiety
OMIM:606324	HTRA2	27429	HP:0003581	Adult onset
OMIM:606324	HTRA2	27429	HP:0000643	Blepharospasm
OMIM:606324	HTRA2	27429	HP:0000007	Autosomal recessive inheritance
OMIM:606324	HTRA2	27429	HP:0003677	Slow progression
OMIM:606324	PINK1	65018	HP:0002063	Rigidity
OMIM:606324	PINK1	65018	HP:0002067	Bradykinesia
OMIM:606324	PINK1	65018	HP:0000739	Anxiety
OMIM:606324	PINK1	65018	HP:0003581	Adult onset
OMIM:606324	PINK1	65018	HP:0000643	Blepharospasm
OMIM:606324	PINK1	65018	HP:0000007	Autosomal recessive inheritance
OMIM:606324	PINK1	65018	HP:0003677	Slow progression
OMIM:606324	LRRK2	120892	HP:0002063	Rigidity
OMIM:606324	LRRK2	120892	HP:0002067	Bradykinesia
OMIM:606324	LRRK2	120892	HP:0000739	Anxiety
OMIM:606324	LRRK2	120892	HP:0003581	Adult onset
OMIM:606324	LRRK2	120892	HP:0000643	Blepharospasm
OMIM:606324	LRRK2	120892	HP:0000007	Autosomal recessive inheritance
OMIM:606324	LRRK2	120892	HP:0003677	Slow progression
OMIM:606324	SNCA	6622	HP:0002063	Rigidity
OMIM:606324	SNCA	6622	HP:0002067	Bradykinesia
OMIM:606324	SNCA	6622	HP:0000739	Anxiety
OMIM:606324	SNCA	6622	HP:0003581	Adult onset
OMIM:606324	SNCA	6622	HP:0000643	Blepharospasm
OMIM:606324	SNCA	6622	HP:0000007	Autosomal recessive inheritance
OMIM:606324	SNCA	6622	HP:0003677	Slow progression
OMIM:606324	PARK2	5071	HP:0002063	Rigidity
OMIM:606324	PARK2	5071	HP:0002067	Bradykinesia
OMIM:606324	PARK2	5071	HP:0000739	Anxiety
OMIM:606324	PARK2	5071	HP:0003581	Adult onset
OMIM:606324	PARK2	5071	HP:0000643	Blepharospasm
OMIM:606324	PARK2	5071	HP:0000007	Autosomal recessive inheritance
OMIM:606324	PARK2	5071	HP:0003677	Slow progression
OMIM:300851	ZNF711	7552	HP:0011003	Severe Myopia
OMIM:300851	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300851	ZNF711	7552	HP:0008734	Decreased testicular size
OMIM:300851	ZNF711	7552	HP:0004322	Short stature
OMIM:300851	ZNF711	7552	HP:0000581	Blepharophimosis
OMIM:300851	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300851	IL1RAPL1	11141	HP:0011003	Severe Myopia
OMIM:300851	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300851	IL1RAPL1	11141	HP:0008734	Decreased testicular size
OMIM:300851	IL1RAPL1	11141	HP:0004322	Short stature
OMIM:300851	IL1RAPL1	11141	HP:0000581	Blepharophimosis
OMIM:300851	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300851	ACSL4	2182	HP:0011003	Severe Myopia
OMIM:300851	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300851	ACSL4	2182	HP:0008734	Decreased testicular size
OMIM:300851	ACSL4	2182	HP:0004322	Short stature
OMIM:300851	ACSL4	2182	HP:0000581	Blepharophimosis
OMIM:300851	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300851	PAK3	5063	HP:0011003	Severe Myopia
OMIM:300851	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300851	PAK3	5063	HP:0008734	Decreased testicular size
OMIM:300851	PAK3	5063	HP:0004322	Short stature
OMIM:300851	PAK3	5063	HP:0000581	Blepharophimosis
OMIM:300851	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300851	SYP	6855	HP:0011003	Severe Myopia
OMIM:300851	SYP	6855	HP:0001249	Intellectual disability
OMIM:300851	SYP	6855	HP:0008734	Decreased testicular size
OMIM:300851	SYP	6855	HP:0004322	Short stature
OMIM:300851	SYP	6855	HP:0000581	Blepharophimosis
OMIM:300851	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300851	FTSJ1	24140	HP:0011003	Severe Myopia
OMIM:300851	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300851	FTSJ1	24140	HP:0008734	Decreased testicular size
OMIM:300851	FTSJ1	24140	HP:0004322	Short stature
OMIM:300851	FTSJ1	24140	HP:0000581	Blepharophimosis
OMIM:300851	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300851	DLG3	1741	HP:0011003	Severe Myopia
OMIM:300851	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300851	DLG3	1741	HP:0008734	Decreased testicular size
OMIM:300851	DLG3	1741	HP:0004322	Short stature
OMIM:300851	DLG3	1741	HP:0000581	Blepharophimosis
OMIM:300851	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300851	PTCHD1	139411	HP:0011003	Severe Myopia
OMIM:300851	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300851	PTCHD1	139411	HP:0008734	Decreased testicular size
OMIM:300851	PTCHD1	139411	HP:0004322	Short stature
OMIM:300851	PTCHD1	139411	HP:0000581	Blepharophimosis
OMIM:300851	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300851	UPF3B	65109	HP:0011003	Severe Myopia
OMIM:300851	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300851	UPF3B	65109	HP:0008734	Decreased testicular size
OMIM:300851	UPF3B	65109	HP:0004322	Short stature
OMIM:300851	UPF3B	65109	HP:0000581	Blepharophimosis
OMIM:300851	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300851	ZNF81	347344	HP:0011003	Severe Myopia
OMIM:300851	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300851	ZNF81	347344	HP:0008734	Decreased testicular size
OMIM:300851	ZNF81	347344	HP:0004322	Short stature
OMIM:300851	ZNF81	347344	HP:0000581	Blepharophimosis
OMIM:300851	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300851	RAB39B	116442	HP:0011003	Severe Myopia
OMIM:300851	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300851	RAB39B	116442	HP:0008734	Decreased testicular size
OMIM:300851	RAB39B	116442	HP:0004322	Short stature
OMIM:300851	RAB39B	116442	HP:0000581	Blepharophimosis
OMIM:300851	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300851	DMD	1756	HP:0011003	Severe Myopia
OMIM:300851	DMD	1756	HP:0001249	Intellectual disability
OMIM:300851	DMD	1756	HP:0008734	Decreased testicular size
OMIM:300851	DMD	1756	HP:0004322	Short stature
OMIM:300851	DMD	1756	HP:0000581	Blepharophimosis
OMIM:300851	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300851	MAGT1	84061	HP:0011003	Severe Myopia
OMIM:300851	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300851	MAGT1	84061	HP:0008734	Decreased testicular size
OMIM:300851	MAGT1	84061	HP:0004322	Short stature
OMIM:300851	MAGT1	84061	HP:0000581	Blepharophimosis
OMIM:300851	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300851	MID2	11043	HP:0011003	Severe Myopia
OMIM:300851	MID2	11043	HP:0001249	Intellectual disability
OMIM:300851	MID2	11043	HP:0008734	Decreased testicular size
OMIM:300851	MID2	11043	HP:0004322	Short stature
OMIM:300851	MID2	11043	HP:0000581	Blepharophimosis
OMIM:300851	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300851	GDI1	2664	HP:0011003	Severe Myopia
OMIM:300851	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300851	GDI1	2664	HP:0008734	Decreased testicular size
OMIM:300851	GDI1	2664	HP:0004322	Short stature
OMIM:300851	GDI1	2664	HP:0000581	Blepharophimosis
OMIM:300851	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300851	ZNF41	7592	HP:0011003	Severe Myopia
OMIM:300851	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300851	ZNF41	7592	HP:0008734	Decreased testicular size
OMIM:300851	ZNF41	7592	HP:0004322	Short stature
OMIM:300851	ZNF41	7592	HP:0000581	Blepharophimosis
OMIM:300851	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300851	MECP2	4204	HP:0011003	Severe Myopia
OMIM:300851	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300851	MECP2	4204	HP:0008734	Decreased testicular size
OMIM:300851	MECP2	4204	HP:0004322	Short stature
OMIM:300851	MECP2	4204	HP:0000581	Blepharophimosis
OMIM:300851	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300851	HCFC1	3054	HP:0011003	Severe Myopia
OMIM:300851	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300851	HCFC1	3054	HP:0008734	Decreased testicular size
OMIM:300851	HCFC1	3054	HP:0004322	Short stature
OMIM:300851	HCFC1	3054	HP:0000581	Blepharophimosis
OMIM:300851	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300851	USP9X	8239	HP:0011003	Severe Myopia
OMIM:300851	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300851	USP9X	8239	HP:0008734	Decreased testicular size
OMIM:300851	USP9X	8239	HP:0004322	Short stature
OMIM:300851	USP9X	8239	HP:0000581	Blepharophimosis
OMIM:300851	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300851	MED12	9968	HP:0011003	Severe Myopia
OMIM:300851	MED12	9968	HP:0001249	Intellectual disability
OMIM:300851	MED12	9968	HP:0008734	Decreased testicular size
OMIM:300851	MED12	9968	HP:0004322	Short stature
OMIM:300851	MED12	9968	HP:0000581	Blepharophimosis
OMIM:300851	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300851	ZNF674	641339	HP:0011003	Severe Myopia
OMIM:300851	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300851	ZNF674	641339	HP:0008734	Decreased testicular size
OMIM:300851	ZNF674	641339	HP:0004322	Short stature
OMIM:300851	ZNF674	641339	HP:0000581	Blepharophimosis
OMIM:300851	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300851	ARHGEF6	9459	HP:0011003	Severe Myopia
OMIM:300851	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300851	ARHGEF6	9459	HP:0008734	Decreased testicular size
OMIM:300851	ARHGEF6	9459	HP:0004322	Short stature
OMIM:300851	ARHGEF6	9459	HP:0000581	Blepharophimosis
OMIM:300851	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300851	RPS6KA3	6197	HP:0011003	Severe Myopia
OMIM:300851	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300851	RPS6KA3	6197	HP:0008734	Decreased testicular size
OMIM:300851	RPS6KA3	6197	HP:0004322	Short stature
OMIM:300851	RPS6KA3	6197	HP:0000581	Blepharophimosis
OMIM:300851	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300851	IQSEC2	23096	HP:0011003	Severe Myopia
OMIM:300851	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300851	IQSEC2	23096	HP:0008734	Decreased testicular size
OMIM:300851	IQSEC2	23096	HP:0004322	Short stature
OMIM:300851	IQSEC2	23096	HP:0000581	Blepharophimosis
OMIM:300851	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300851	AGTR2	186	HP:0011003	Severe Myopia
OMIM:300851	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300851	AGTR2	186	HP:0008734	Decreased testicular size
OMIM:300851	AGTR2	186	HP:0004322	Short stature
OMIM:300851	AGTR2	186	HP:0000581	Blepharophimosis
OMIM:300851	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300851	ARX	170302	HP:0011003	Severe Myopia
OMIM:300851	ARX	170302	HP:0001249	Intellectual disability
OMIM:300851	ARX	170302	HP:0008734	Decreased testicular size
OMIM:300851	ARX	170302	HP:0004322	Short stature
OMIM:300851	ARX	170302	HP:0000581	Blepharophimosis
OMIM:300851	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300851	ALG13	79868	HP:0011003	Severe Myopia
OMIM:300851	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300851	ALG13	79868	HP:0008734	Decreased testicular size
OMIM:300851	ALG13	79868	HP:0004322	Short stature
OMIM:300851	ALG13	79868	HP:0000581	Blepharophimosis
OMIM:300851	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300851	TSPAN7	7102	HP:0011003	Severe Myopia
OMIM:300851	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300851	TSPAN7	7102	HP:0008734	Decreased testicular size
OMIM:300851	TSPAN7	7102	HP:0004322	Short stature
OMIM:300851	TSPAN7	7102	HP:0000581	Blepharophimosis
OMIM:300851	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:228930	WNT7A	7476	HP:0006143	Abnormal finger flexion creases
OMIM:228930	WNT7A	7476	HP:0010767	Sacrococcygeal pilonidal abnormality
OMIM:228930	WNT7A	7476	HP:0000954	Single transverse palmar crease
OMIM:228930	WNT7A	7476	HP:0001171	Split hand
OMIM:228930	WNT7A	7476	HP:0006495	Aplasia/Hypoplasia of the ulna
OMIM:228930	WNT7A	7476	HP:0002991	Abnormality of the fibula
OMIM:228930	WNT7A	7476	HP:0001162	Postaxial hand polydactyly
OMIM:228930	WNT7A	7476	HP:0006492	Aplasia/Hypoplasia of the fibula
OMIM:228930	WNT7A	7476	HP:0005613	Aplasia/hypoplasia of the femur
OMIM:228930	WNT7A	7476	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:228930	WNT7A	7476	HP:0001802	Absent toenail
OMIM:228930	WNT7A	7476	HP:0006262	Aplasia/Hypoplasia of the 5th finger
OMIM:228930	WNT7A	7476	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:228930	WNT7A	7476	HP:0006101	Finger syndactyly
OMIM:228930	WNT7A	7476	HP:0002823	Abnormality of the femur
OMIM:228930	WNT7A	7476	HP:0006443	Patellar aplasia
OMIM:228930	WNT7A	7476	HP:0009882	Short distal phalanx of finger
OMIM:228930	WNT7A	7476	HP:0002980	Femoral bowing
OMIM:228930	WNT7A	7476	HP:0001798	Anonychia
OMIM:228930	WNT7A	7476	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:228930	WNT7A	7476	HP:0000141	Amenorrhea
OMIM:228930	WNT7A	7476	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:228930	WNT7A	7476	HP:0000400	Macrotia
OMIM:228930	WNT7A	7476	HP:0001883	Talipes
OMIM:228930	WNT7A	7476	HP:0006487	Bowing of the long bones
OMIM:228930	WNT7A	7476	HP:0001231	Abnormality of the fingernails
OMIM:228930	WNT7A	7476	HP:0002986	Radial bowing
OMIM:228930	WNT7A	7476	HP:0001374	Congenital hip dislocation
OMIM:228930	WNT7A	7476	HP:0001800	Hypoplastic toenails
OMIM:228930	WNT7A	7476	HP:0009465	Ulnar deviation of finger
OMIM:228930	WNT7A	7476	HP:0002984	Hypoplasia of the radius
OMIM:228930	WNT7A	7476	HP:0004209	Clinodactyly of the 5th finger
OMIM:228930	WNT7A	7476	HP:0000368	Low-set, posteriorly rotated ears
OMIM:228930	WNT7A	7476	HP:0003272	Abnormality of the hip bone
OMIM:228930	WNT7A	7476	HP:0004322	Short stature
OMIM:228930	WNT7A	7476	HP:0000007	Autosomal recessive inheritance
OMIM:228930	WNT7A	7476	HP:0001163	Abnormality of the metacarpal bones
OMIM:228930	WNT7A	7476	HP:0001762	Talipes equinovarus
OMIM:228930	WNT7A	7476	HP:0008368	Tarsal synostosis
OMIM:228930	WNT7A	7476	HP:0001770	Toe syndactyly
OMIM:147480	NR1H4	9971	HP:0001406	Intrahepatic cholestasis
OMIM:147480	NR1H4	9971	HP:0000006	Autosomal dominant inheritance
OMIM:147480	NR1H4	9971	HP:0001622	Premature birth
OMIM:147480	NR1H4	9971	HP:0000989	Pruritus
OMIM:147480	ATP8B1	5205	HP:0001406	Intrahepatic cholestasis
OMIM:147480	ATP8B1	5205	HP:0000006	Autosomal dominant inheritance
OMIM:147480	ATP8B1	5205	HP:0001622	Premature birth
OMIM:147480	ATP8B1	5205	HP:0000989	Pruritus
OMIM:147480	ABCB11	8647	HP:0001406	Intrahepatic cholestasis
OMIM:147480	ABCB11	8647	HP:0000006	Autosomal dominant inheritance
OMIM:147480	ABCB11	8647	HP:0001622	Premature birth
OMIM:147480	ABCB11	8647	HP:0000989	Pruritus
OMIM:147480	ABCB4	5244	HP:0001406	Intrahepatic cholestasis
OMIM:147480	ABCB4	5244	HP:0000006	Autosomal dominant inheritance
OMIM:147480	ABCB4	5244	HP:0001622	Premature birth
OMIM:147480	ABCB4	5244	HP:0000989	Pruritus
OMIM:256540	CTSA	5476	HP:0000365	Hearing impairment
OMIM:256540	CTSA	5476	HP:0000943	Dysostosis multiplex
OMIM:256540	CTSA	5476	HP:0001028	Hemangioma
OMIM:256540	CTSA	5476	HP:0001103	Abnormality of the macula
OMIM:256540	CTSA	5476	HP:0004322	Short stature
OMIM:256540	CTSA	5476	HP:0000007	Autosomal recessive inheritance
OMIM:256540	CTSA	5476	HP:0007759	Opacification of the corneal stroma
OMIM:256540	CTSA	5476	HP:0000280	Coarse facial features
OMIM:256540	CTSA	5476	HP:0001250	Seizures
OMIM:256540	CTSA	5476	HP:0002652	Skeletal dysplasia
OMIM:256540	CTSA	5476	HP:0003510	Severe short stature
OMIM:256540	CTSA	5476	HP:0001433	Hepatosplenomegaly
OMIM:256540	CTSA	5476	HP:0001249	Intellectual disability
OMIM:256540	CTSA	5476	HP:0100543	Cognitive impairment
OMIM:607016	IDUA	3425	HP:0000470	Short neck
OMIM:607016	IDUA	3425	HP:0008155	Mucopolysacchariduria
OMIM:607016	IDUA	3425	HP:0001761	Pes cavus
OMIM:607016	IDUA	3425	HP:0000501	Glaucoma
OMIM:607016	IDUA	3425	HP:0001376	Limitation of joint mobility
OMIM:607016	IDUA	3425	HP:0001650	Aortic valve stenosis
OMIM:607016	IDUA	3425	HP:0000280	Coarse facial features
OMIM:607016	IDUA	3425	HP:0000407	Sensorineural hearing impairment
OMIM:607016	IDUA	3425	HP:0007759	Opacification of the corneal stroma
OMIM:607016	IDUA	3425	HP:0000154	Wide mouth
OMIM:607016	IDUA	3425	HP:0000246	Sinusitis
OMIM:607016	IDUA	3425	HP:0001744	Splenomegaly
OMIM:607016	IDUA	3425	HP:0004374	Hemiplegia/hemiparesis
OMIM:607016	IDUA	3425	HP:0000179	Thick lower lip vermilion
OMIM:607016	IDUA	3425	HP:0001276	Hypertonia
OMIM:607016	IDUA	3425	HP:0000762	Decreased nerve conduction velocity
OMIM:607016	IDUA	3425	HP:0002240	Hepatomegaly
OMIM:607016	IDUA	3425	HP:0000303	Mandibular prognathia
OMIM:607016	IDUA	3425	HP:0007957	Corneal opacity
OMIM:607016	IDUA	3425	HP:0002857	Genu valgum
OMIM:607016	IDUA	3425	HP:0005280	Depressed nasal bridge
OMIM:607016	IDUA	3425	HP:0000293	Full cheeks
OMIM:607016	IDUA	3425	HP:0000546	Retinal degeneration
OMIM:607016	IDUA	3425	HP:0000007	Autosomal recessive inheritance
OMIM:607016	IDUA	3425	HP:0000232	Everted lower lip vermilion
OMIM:607016	IDUA	3425	HP:0000445	Wide nose
OMIM:607016	IDUA	3425	HP:0001659	Aortic regurgitation
OMIM:607016	IDUA	3425	HP:0001646	Abnormality of the aortic valve
ORPHANET:110	MKKS	8195	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	MKKS	8195	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	MKKS	8195	HP:0008736	Hypoplasia of penis
ORPHANET:110	MKKS	8195	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	MKKS	8195	HP:0000998	Hypertrichosis
ORPHANET:110	MKKS	8195	HP:0000028	Cryptorchidism
ORPHANET:110	MKKS	8195	HP:0000100	Nephrotic syndrome
ORPHANET:110	MKKS	8195	HP:0000639	Nystagmus
ORPHANET:110	MKKS	8195	HP:0001513	Obesity
ORPHANET:110	MKKS	8195	HP:0000470	Short neck
ORPHANET:110	MKKS	8195	HP:0001399	Hepatic failure
ORPHANET:110	MKKS	8195	HP:0000147	Polycystic ovaries
ORPHANET:110	MKKS	8195	HP:0000512	Abnormal electroretinogram
ORPHANET:110	MKKS	8195	HP:0006101	Finger syndactyly
ORPHANET:110	MKKS	8195	HP:0000365	Hearing impairment
ORPHANET:110	MKKS	8195	HP:0002167	Neurological speech impairment
ORPHANET:110	MKKS	8195	HP:0004322	Short stature
ORPHANET:110	MKKS	8195	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	MKKS	8195	HP:0000822	Hypertension
ORPHANET:110	MKKS	8195	HP:0000426	Prominent nasal bridge
ORPHANET:110	MKKS	8195	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	MKKS	8195	HP:0100543	Cognitive impairment
ORPHANET:110	MKKS	8195	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	NPHP1	4867	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	NPHP1	4867	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	NPHP1	4867	HP:0008736	Hypoplasia of penis
ORPHANET:110	NPHP1	4867	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	NPHP1	4867	HP:0000998	Hypertrichosis
ORPHANET:110	NPHP1	4867	HP:0000028	Cryptorchidism
ORPHANET:110	NPHP1	4867	HP:0000100	Nephrotic syndrome
ORPHANET:110	NPHP1	4867	HP:0000639	Nystagmus
ORPHANET:110	NPHP1	4867	HP:0001513	Obesity
ORPHANET:110	NPHP1	4867	HP:0000470	Short neck
ORPHANET:110	NPHP1	4867	HP:0001399	Hepatic failure
ORPHANET:110	NPHP1	4867	HP:0000147	Polycystic ovaries
ORPHANET:110	NPHP1	4867	HP:0000512	Abnormal electroretinogram
ORPHANET:110	NPHP1	4867	HP:0006101	Finger syndactyly
ORPHANET:110	NPHP1	4867	HP:0000365	Hearing impairment
ORPHANET:110	NPHP1	4867	HP:0002167	Neurological speech impairment
ORPHANET:110	NPHP1	4867	HP:0004322	Short stature
ORPHANET:110	NPHP1	4867	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	NPHP1	4867	HP:0000822	Hypertension
ORPHANET:110	NPHP1	4867	HP:0000426	Prominent nasal bridge
ORPHANET:110	NPHP1	4867	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	NPHP1	4867	HP:0100543	Cognitive impairment
ORPHANET:110	NPHP1	4867	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	BBIP1	92482	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	BBIP1	92482	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	BBIP1	92482	HP:0008736	Hypoplasia of penis
ORPHANET:110	BBIP1	92482	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	BBIP1	92482	HP:0000998	Hypertrichosis
ORPHANET:110	BBIP1	92482	HP:0000028	Cryptorchidism
ORPHANET:110	BBIP1	92482	HP:0000100	Nephrotic syndrome
ORPHANET:110	BBIP1	92482	HP:0000639	Nystagmus
ORPHANET:110	BBIP1	92482	HP:0001513	Obesity
ORPHANET:110	BBIP1	92482	HP:0000470	Short neck
ORPHANET:110	BBIP1	92482	HP:0001399	Hepatic failure
ORPHANET:110	BBIP1	92482	HP:0000147	Polycystic ovaries
ORPHANET:110	BBIP1	92482	HP:0000512	Abnormal electroretinogram
ORPHANET:110	BBIP1	92482	HP:0006101	Finger syndactyly
ORPHANET:110	BBIP1	92482	HP:0000365	Hearing impairment
ORPHANET:110	BBIP1	92482	HP:0002167	Neurological speech impairment
ORPHANET:110	BBIP1	92482	HP:0004322	Short stature
ORPHANET:110	BBIP1	92482	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	BBIP1	92482	HP:0000822	Hypertension
ORPHANET:110	BBIP1	92482	HP:0000426	Prominent nasal bridge
ORPHANET:110	BBIP1	92482	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	BBIP1	92482	HP:0100543	Cognitive impairment
ORPHANET:110	BBIP1	92482	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	ARL6	84100	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	ARL6	84100	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	ARL6	84100	HP:0008736	Hypoplasia of penis
ORPHANET:110	ARL6	84100	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	ARL6	84100	HP:0000998	Hypertrichosis
ORPHANET:110	ARL6	84100	HP:0000028	Cryptorchidism
ORPHANET:110	ARL6	84100	HP:0000100	Nephrotic syndrome
ORPHANET:110	ARL6	84100	HP:0000639	Nystagmus
ORPHANET:110	ARL6	84100	HP:0001513	Obesity
ORPHANET:110	ARL6	84100	HP:0000470	Short neck
ORPHANET:110	ARL6	84100	HP:0001399	Hepatic failure
ORPHANET:110	ARL6	84100	HP:0000147	Polycystic ovaries
ORPHANET:110	ARL6	84100	HP:0000512	Abnormal electroretinogram
ORPHANET:110	ARL6	84100	HP:0006101	Finger syndactyly
ORPHANET:110	ARL6	84100	HP:0000365	Hearing impairment
ORPHANET:110	ARL6	84100	HP:0002167	Neurological speech impairment
ORPHANET:110	ARL6	84100	HP:0004322	Short stature
ORPHANET:110	ARL6	84100	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	ARL6	84100	HP:0000822	Hypertension
ORPHANET:110	ARL6	84100	HP:0000426	Prominent nasal bridge
ORPHANET:110	ARL6	84100	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	ARL6	84100	HP:0100543	Cognitive impairment
ORPHANET:110	ARL6	84100	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	BBS1	582	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	BBS1	582	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	BBS1	582	HP:0008736	Hypoplasia of penis
ORPHANET:110	BBS1	582	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	BBS1	582	HP:0000998	Hypertrichosis
ORPHANET:110	BBS1	582	HP:0000028	Cryptorchidism
ORPHANET:110	BBS1	582	HP:0000100	Nephrotic syndrome
ORPHANET:110	BBS1	582	HP:0000639	Nystagmus
ORPHANET:110	BBS1	582	HP:0001513	Obesity
ORPHANET:110	BBS1	582	HP:0000470	Short neck
ORPHANET:110	BBS1	582	HP:0001399	Hepatic failure
ORPHANET:110	BBS1	582	HP:0000147	Polycystic ovaries
ORPHANET:110	BBS1	582	HP:0000512	Abnormal electroretinogram
ORPHANET:110	BBS1	582	HP:0006101	Finger syndactyly
ORPHANET:110	BBS1	582	HP:0000365	Hearing impairment
ORPHANET:110	BBS1	582	HP:0002167	Neurological speech impairment
ORPHANET:110	BBS1	582	HP:0004322	Short stature
ORPHANET:110	BBS1	582	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	BBS1	582	HP:0000822	Hypertension
ORPHANET:110	BBS1	582	HP:0000426	Prominent nasal bridge
ORPHANET:110	BBS1	582	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	BBS1	582	HP:0100543	Cognitive impairment
ORPHANET:110	BBS1	582	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	BBS2	583	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	BBS2	583	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	BBS2	583	HP:0008736	Hypoplasia of penis
ORPHANET:110	BBS2	583	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	BBS2	583	HP:0000998	Hypertrichosis
ORPHANET:110	BBS2	583	HP:0000028	Cryptorchidism
ORPHANET:110	BBS2	583	HP:0000100	Nephrotic syndrome
ORPHANET:110	BBS2	583	HP:0000639	Nystagmus
ORPHANET:110	BBS2	583	HP:0001513	Obesity
ORPHANET:110	BBS2	583	HP:0000470	Short neck
ORPHANET:110	BBS2	583	HP:0001399	Hepatic failure
ORPHANET:110	BBS2	583	HP:0000147	Polycystic ovaries
ORPHANET:110	BBS2	583	HP:0000512	Abnormal electroretinogram
ORPHANET:110	BBS2	583	HP:0006101	Finger syndactyly
ORPHANET:110	BBS2	583	HP:0000365	Hearing impairment
ORPHANET:110	BBS2	583	HP:0002167	Neurological speech impairment
ORPHANET:110	BBS2	583	HP:0004322	Short stature
ORPHANET:110	BBS2	583	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	BBS2	583	HP:0000822	Hypertension
ORPHANET:110	BBS2	583	HP:0000426	Prominent nasal bridge
ORPHANET:110	BBS2	583	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	BBS2	583	HP:0100543	Cognitive impairment
ORPHANET:110	BBS2	583	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	BBS4	585	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	BBS4	585	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	BBS4	585	HP:0008736	Hypoplasia of penis
ORPHANET:110	BBS4	585	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	BBS4	585	HP:0000998	Hypertrichosis
ORPHANET:110	BBS4	585	HP:0000028	Cryptorchidism
ORPHANET:110	BBS4	585	HP:0000100	Nephrotic syndrome
ORPHANET:110	BBS4	585	HP:0000639	Nystagmus
ORPHANET:110	BBS4	585	HP:0001513	Obesity
ORPHANET:110	BBS4	585	HP:0000470	Short neck
ORPHANET:110	BBS4	585	HP:0001399	Hepatic failure
ORPHANET:110	BBS4	585	HP:0000147	Polycystic ovaries
ORPHANET:110	BBS4	585	HP:0000512	Abnormal electroretinogram
ORPHANET:110	BBS4	585	HP:0006101	Finger syndactyly
ORPHANET:110	BBS4	585	HP:0000365	Hearing impairment
ORPHANET:110	BBS4	585	HP:0002167	Neurological speech impairment
ORPHANET:110	BBS4	585	HP:0004322	Short stature
ORPHANET:110	BBS4	585	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	BBS4	585	HP:0000822	Hypertension
ORPHANET:110	BBS4	585	HP:0000426	Prominent nasal bridge
ORPHANET:110	BBS4	585	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	BBS4	585	HP:0100543	Cognitive impairment
ORPHANET:110	BBS4	585	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	BBS9	27241	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	BBS9	27241	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	BBS9	27241	HP:0008736	Hypoplasia of penis
ORPHANET:110	BBS9	27241	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	BBS9	27241	HP:0000998	Hypertrichosis
ORPHANET:110	BBS9	27241	HP:0000028	Cryptorchidism
ORPHANET:110	BBS9	27241	HP:0000100	Nephrotic syndrome
ORPHANET:110	BBS9	27241	HP:0000639	Nystagmus
ORPHANET:110	BBS9	27241	HP:0001513	Obesity
ORPHANET:110	BBS9	27241	HP:0000470	Short neck
ORPHANET:110	BBS9	27241	HP:0001399	Hepatic failure
ORPHANET:110	BBS9	27241	HP:0000147	Polycystic ovaries
ORPHANET:110	BBS9	27241	HP:0000512	Abnormal electroretinogram
ORPHANET:110	BBS9	27241	HP:0006101	Finger syndactyly
ORPHANET:110	BBS9	27241	HP:0000365	Hearing impairment
ORPHANET:110	BBS9	27241	HP:0002167	Neurological speech impairment
ORPHANET:110	BBS9	27241	HP:0004322	Short stature
ORPHANET:110	BBS9	27241	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	BBS9	27241	HP:0000822	Hypertension
ORPHANET:110	BBS9	27241	HP:0000426	Prominent nasal bridge
ORPHANET:110	BBS9	27241	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	BBS9	27241	HP:0100543	Cognitive impairment
ORPHANET:110	BBS9	27241	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	TTC8	123016	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	TTC8	123016	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	TTC8	123016	HP:0008736	Hypoplasia of penis
ORPHANET:110	TTC8	123016	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	TTC8	123016	HP:0000998	Hypertrichosis
ORPHANET:110	TTC8	123016	HP:0000028	Cryptorchidism
ORPHANET:110	TTC8	123016	HP:0000100	Nephrotic syndrome
ORPHANET:110	TTC8	123016	HP:0000639	Nystagmus
ORPHANET:110	TTC8	123016	HP:0001513	Obesity
ORPHANET:110	TTC8	123016	HP:0000470	Short neck
ORPHANET:110	TTC8	123016	HP:0001399	Hepatic failure
ORPHANET:110	TTC8	123016	HP:0000147	Polycystic ovaries
ORPHANET:110	TTC8	123016	HP:0000512	Abnormal electroretinogram
ORPHANET:110	TTC8	123016	HP:0006101	Finger syndactyly
ORPHANET:110	TTC8	123016	HP:0000365	Hearing impairment
ORPHANET:110	TTC8	123016	HP:0002167	Neurological speech impairment
ORPHANET:110	TTC8	123016	HP:0004322	Short stature
ORPHANET:110	TTC8	123016	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	TTC8	123016	HP:0000822	Hypertension
ORPHANET:110	TTC8	123016	HP:0000426	Prominent nasal bridge
ORPHANET:110	TTC8	123016	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	TTC8	123016	HP:0100543	Cognitive impairment
ORPHANET:110	TTC8	123016	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	BBS12	166379	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	BBS12	166379	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	BBS12	166379	HP:0008736	Hypoplasia of penis
ORPHANET:110	BBS12	166379	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	BBS12	166379	HP:0000998	Hypertrichosis
ORPHANET:110	BBS12	166379	HP:0000028	Cryptorchidism
ORPHANET:110	BBS12	166379	HP:0000100	Nephrotic syndrome
ORPHANET:110	BBS12	166379	HP:0000639	Nystagmus
ORPHANET:110	BBS12	166379	HP:0001513	Obesity
ORPHANET:110	BBS12	166379	HP:0000470	Short neck
ORPHANET:110	BBS12	166379	HP:0001399	Hepatic failure
ORPHANET:110	BBS12	166379	HP:0000147	Polycystic ovaries
ORPHANET:110	BBS12	166379	HP:0000512	Abnormal electroretinogram
ORPHANET:110	BBS12	166379	HP:0006101	Finger syndactyly
ORPHANET:110	BBS12	166379	HP:0000365	Hearing impairment
ORPHANET:110	BBS12	166379	HP:0002167	Neurological speech impairment
ORPHANET:110	BBS12	166379	HP:0004322	Short stature
ORPHANET:110	BBS12	166379	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	BBS12	166379	HP:0000822	Hypertension
ORPHANET:110	BBS12	166379	HP:0000426	Prominent nasal bridge
ORPHANET:110	BBS12	166379	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	BBS12	166379	HP:0100543	Cognitive impairment
ORPHANET:110	BBS12	166379	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	TRIM32	22954	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	TRIM32	22954	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	TRIM32	22954	HP:0008736	Hypoplasia of penis
ORPHANET:110	TRIM32	22954	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	TRIM32	22954	HP:0000998	Hypertrichosis
ORPHANET:110	TRIM32	22954	HP:0000028	Cryptorchidism
ORPHANET:110	TRIM32	22954	HP:0000100	Nephrotic syndrome
ORPHANET:110	TRIM32	22954	HP:0000639	Nystagmus
ORPHANET:110	TRIM32	22954	HP:0001513	Obesity
ORPHANET:110	TRIM32	22954	HP:0000470	Short neck
ORPHANET:110	TRIM32	22954	HP:0001399	Hepatic failure
ORPHANET:110	TRIM32	22954	HP:0000147	Polycystic ovaries
ORPHANET:110	TRIM32	22954	HP:0000512	Abnormal electroretinogram
ORPHANET:110	TRIM32	22954	HP:0006101	Finger syndactyly
ORPHANET:110	TRIM32	22954	HP:0000365	Hearing impairment
ORPHANET:110	TRIM32	22954	HP:0002167	Neurological speech impairment
ORPHANET:110	TRIM32	22954	HP:0004322	Short stature
ORPHANET:110	TRIM32	22954	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	TRIM32	22954	HP:0000822	Hypertension
ORPHANET:110	TRIM32	22954	HP:0000426	Prominent nasal bridge
ORPHANET:110	TRIM32	22954	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	TRIM32	22954	HP:0100543	Cognitive impairment
ORPHANET:110	TRIM32	22954	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	BBS7	55212	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	BBS7	55212	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	BBS7	55212	HP:0008736	Hypoplasia of penis
ORPHANET:110	BBS7	55212	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	BBS7	55212	HP:0000998	Hypertrichosis
ORPHANET:110	BBS7	55212	HP:0000028	Cryptorchidism
ORPHANET:110	BBS7	55212	HP:0000100	Nephrotic syndrome
ORPHANET:110	BBS7	55212	HP:0000639	Nystagmus
ORPHANET:110	BBS7	55212	HP:0001513	Obesity
ORPHANET:110	BBS7	55212	HP:0000470	Short neck
ORPHANET:110	BBS7	55212	HP:0001399	Hepatic failure
ORPHANET:110	BBS7	55212	HP:0000147	Polycystic ovaries
ORPHANET:110	BBS7	55212	HP:0000512	Abnormal electroretinogram
ORPHANET:110	BBS7	55212	HP:0006101	Finger syndactyly
ORPHANET:110	BBS7	55212	HP:0000365	Hearing impairment
ORPHANET:110	BBS7	55212	HP:0002167	Neurological speech impairment
ORPHANET:110	BBS7	55212	HP:0004322	Short stature
ORPHANET:110	BBS7	55212	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	BBS7	55212	HP:0000822	Hypertension
ORPHANET:110	BBS7	55212	HP:0000426	Prominent nasal bridge
ORPHANET:110	BBS7	55212	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	BBS7	55212	HP:0100543	Cognitive impairment
ORPHANET:110	BBS7	55212	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	IFT27	11020	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	IFT27	11020	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	IFT27	11020	HP:0008736	Hypoplasia of penis
ORPHANET:110	IFT27	11020	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	IFT27	11020	HP:0000998	Hypertrichosis
ORPHANET:110	IFT27	11020	HP:0000028	Cryptorchidism
ORPHANET:110	IFT27	11020	HP:0000100	Nephrotic syndrome
ORPHANET:110	IFT27	11020	HP:0000639	Nystagmus
ORPHANET:110	IFT27	11020	HP:0001513	Obesity
ORPHANET:110	IFT27	11020	HP:0000470	Short neck
ORPHANET:110	IFT27	11020	HP:0001399	Hepatic failure
ORPHANET:110	IFT27	11020	HP:0000147	Polycystic ovaries
ORPHANET:110	IFT27	11020	HP:0000512	Abnormal electroretinogram
ORPHANET:110	IFT27	11020	HP:0006101	Finger syndactyly
ORPHANET:110	IFT27	11020	HP:0000365	Hearing impairment
ORPHANET:110	IFT27	11020	HP:0002167	Neurological speech impairment
ORPHANET:110	IFT27	11020	HP:0004322	Short stature
ORPHANET:110	IFT27	11020	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	IFT27	11020	HP:0000822	Hypertension
ORPHANET:110	IFT27	11020	HP:0000426	Prominent nasal bridge
ORPHANET:110	IFT27	11020	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	IFT27	11020	HP:0100543	Cognitive impairment
ORPHANET:110	IFT27	11020	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	IFT172	26160	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	IFT172	26160	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	IFT172	26160	HP:0008736	Hypoplasia of penis
ORPHANET:110	IFT172	26160	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	IFT172	26160	HP:0000998	Hypertrichosis
ORPHANET:110	IFT172	26160	HP:0000028	Cryptorchidism
ORPHANET:110	IFT172	26160	HP:0000100	Nephrotic syndrome
ORPHANET:110	IFT172	26160	HP:0000639	Nystagmus
ORPHANET:110	IFT172	26160	HP:0001513	Obesity
ORPHANET:110	IFT172	26160	HP:0000470	Short neck
ORPHANET:110	IFT172	26160	HP:0001399	Hepatic failure
ORPHANET:110	IFT172	26160	HP:0000147	Polycystic ovaries
ORPHANET:110	IFT172	26160	HP:0000512	Abnormal electroretinogram
ORPHANET:110	IFT172	26160	HP:0006101	Finger syndactyly
ORPHANET:110	IFT172	26160	HP:0000365	Hearing impairment
ORPHANET:110	IFT172	26160	HP:0002167	Neurological speech impairment
ORPHANET:110	IFT172	26160	HP:0004322	Short stature
ORPHANET:110	IFT172	26160	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	IFT172	26160	HP:0000822	Hypertension
ORPHANET:110	IFT172	26160	HP:0000426	Prominent nasal bridge
ORPHANET:110	IFT172	26160	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	IFT172	26160	HP:0100543	Cognitive impairment
ORPHANET:110	IFT172	26160	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	WDPCP	51057	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	WDPCP	51057	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	WDPCP	51057	HP:0008736	Hypoplasia of penis
ORPHANET:110	WDPCP	51057	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	WDPCP	51057	HP:0000998	Hypertrichosis
ORPHANET:110	WDPCP	51057	HP:0000028	Cryptorchidism
ORPHANET:110	WDPCP	51057	HP:0000100	Nephrotic syndrome
ORPHANET:110	WDPCP	51057	HP:0000639	Nystagmus
ORPHANET:110	WDPCP	51057	HP:0001513	Obesity
ORPHANET:110	WDPCP	51057	HP:0000470	Short neck
ORPHANET:110	WDPCP	51057	HP:0001399	Hepatic failure
ORPHANET:110	WDPCP	51057	HP:0000147	Polycystic ovaries
ORPHANET:110	WDPCP	51057	HP:0000512	Abnormal electroretinogram
ORPHANET:110	WDPCP	51057	HP:0006101	Finger syndactyly
ORPHANET:110	WDPCP	51057	HP:0000365	Hearing impairment
ORPHANET:110	WDPCP	51057	HP:0002167	Neurological speech impairment
ORPHANET:110	WDPCP	51057	HP:0004322	Short stature
ORPHANET:110	WDPCP	51057	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	WDPCP	51057	HP:0000822	Hypertension
ORPHANET:110	WDPCP	51057	HP:0000426	Prominent nasal bridge
ORPHANET:110	WDPCP	51057	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	WDPCP	51057	HP:0100543	Cognitive impairment
ORPHANET:110	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	SDCCAG8	10806	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	SDCCAG8	10806	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	SDCCAG8	10806	HP:0008736	Hypoplasia of penis
ORPHANET:110	SDCCAG8	10806	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	SDCCAG8	10806	HP:0000998	Hypertrichosis
ORPHANET:110	SDCCAG8	10806	HP:0000028	Cryptorchidism
ORPHANET:110	SDCCAG8	10806	HP:0000100	Nephrotic syndrome
ORPHANET:110	SDCCAG8	10806	HP:0000639	Nystagmus
ORPHANET:110	SDCCAG8	10806	HP:0001513	Obesity
ORPHANET:110	SDCCAG8	10806	HP:0000470	Short neck
ORPHANET:110	SDCCAG8	10806	HP:0001399	Hepatic failure
ORPHANET:110	SDCCAG8	10806	HP:0000147	Polycystic ovaries
ORPHANET:110	SDCCAG8	10806	HP:0000512	Abnormal electroretinogram
ORPHANET:110	SDCCAG8	10806	HP:0006101	Finger syndactyly
ORPHANET:110	SDCCAG8	10806	HP:0000365	Hearing impairment
ORPHANET:110	SDCCAG8	10806	HP:0002167	Neurological speech impairment
ORPHANET:110	SDCCAG8	10806	HP:0004322	Short stature
ORPHANET:110	SDCCAG8	10806	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	SDCCAG8	10806	HP:0000822	Hypertension
ORPHANET:110	SDCCAG8	10806	HP:0000426	Prominent nasal bridge
ORPHANET:110	SDCCAG8	10806	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	SDCCAG8	10806	HP:0100543	Cognitive impairment
ORPHANET:110	SDCCAG8	10806	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	MKS1	54903	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	MKS1	54903	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	MKS1	54903	HP:0008736	Hypoplasia of penis
ORPHANET:110	MKS1	54903	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	MKS1	54903	HP:0000998	Hypertrichosis
ORPHANET:110	MKS1	54903	HP:0000028	Cryptorchidism
ORPHANET:110	MKS1	54903	HP:0000100	Nephrotic syndrome
ORPHANET:110	MKS1	54903	HP:0000639	Nystagmus
ORPHANET:110	MKS1	54903	HP:0001513	Obesity
ORPHANET:110	MKS1	54903	HP:0000470	Short neck
ORPHANET:110	MKS1	54903	HP:0001399	Hepatic failure
ORPHANET:110	MKS1	54903	HP:0000147	Polycystic ovaries
ORPHANET:110	MKS1	54903	HP:0000512	Abnormal electroretinogram
ORPHANET:110	MKS1	54903	HP:0006101	Finger syndactyly
ORPHANET:110	MKS1	54903	HP:0000365	Hearing impairment
ORPHANET:110	MKS1	54903	HP:0002167	Neurological speech impairment
ORPHANET:110	MKS1	54903	HP:0004322	Short stature
ORPHANET:110	MKS1	54903	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	MKS1	54903	HP:0000822	Hypertension
ORPHANET:110	MKS1	54903	HP:0000426	Prominent nasal bridge
ORPHANET:110	MKS1	54903	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	MKS1	54903	HP:0100543	Cognitive impairment
ORPHANET:110	MKS1	54903	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	BBS5	129880	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	BBS5	129880	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	BBS5	129880	HP:0008736	Hypoplasia of penis
ORPHANET:110	BBS5	129880	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	BBS5	129880	HP:0000998	Hypertrichosis
ORPHANET:110	BBS5	129880	HP:0000028	Cryptorchidism
ORPHANET:110	BBS5	129880	HP:0000100	Nephrotic syndrome
ORPHANET:110	BBS5	129880	HP:0000639	Nystagmus
ORPHANET:110	BBS5	129880	HP:0001513	Obesity
ORPHANET:110	BBS5	129880	HP:0000470	Short neck
ORPHANET:110	BBS5	129880	HP:0001399	Hepatic failure
ORPHANET:110	BBS5	129880	HP:0000147	Polycystic ovaries
ORPHANET:110	BBS5	129880	HP:0000512	Abnormal electroretinogram
ORPHANET:110	BBS5	129880	HP:0006101	Finger syndactyly
ORPHANET:110	BBS5	129880	HP:0000365	Hearing impairment
ORPHANET:110	BBS5	129880	HP:0002167	Neurological speech impairment
ORPHANET:110	BBS5	129880	HP:0004322	Short stature
ORPHANET:110	BBS5	129880	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	BBS5	129880	HP:0000822	Hypertension
ORPHANET:110	BBS5	129880	HP:0000426	Prominent nasal bridge
ORPHANET:110	BBS5	129880	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	BBS5	129880	HP:0100543	Cognitive impairment
ORPHANET:110	BBS5	129880	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	CEP290	80184	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	CEP290	80184	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	CEP290	80184	HP:0008736	Hypoplasia of penis
ORPHANET:110	CEP290	80184	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	CEP290	80184	HP:0000998	Hypertrichosis
ORPHANET:110	CEP290	80184	HP:0000028	Cryptorchidism
ORPHANET:110	CEP290	80184	HP:0000100	Nephrotic syndrome
ORPHANET:110	CEP290	80184	HP:0000639	Nystagmus
ORPHANET:110	CEP290	80184	HP:0001513	Obesity
ORPHANET:110	CEP290	80184	HP:0000470	Short neck
ORPHANET:110	CEP290	80184	HP:0001399	Hepatic failure
ORPHANET:110	CEP290	80184	HP:0000147	Polycystic ovaries
ORPHANET:110	CEP290	80184	HP:0000512	Abnormal electroretinogram
ORPHANET:110	CEP290	80184	HP:0006101	Finger syndactyly
ORPHANET:110	CEP290	80184	HP:0000365	Hearing impairment
ORPHANET:110	CEP290	80184	HP:0002167	Neurological speech impairment
ORPHANET:110	CEP290	80184	HP:0004322	Short stature
ORPHANET:110	CEP290	80184	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	CEP290	80184	HP:0000822	Hypertension
ORPHANET:110	CEP290	80184	HP:0000426	Prominent nasal bridge
ORPHANET:110	CEP290	80184	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	CEP290	80184	HP:0100543	Cognitive impairment
ORPHANET:110	CEP290	80184	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	LZTFL1	54585	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	LZTFL1	54585	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	LZTFL1	54585	HP:0008736	Hypoplasia of penis
ORPHANET:110	LZTFL1	54585	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	LZTFL1	54585	HP:0000998	Hypertrichosis
ORPHANET:110	LZTFL1	54585	HP:0000028	Cryptorchidism
ORPHANET:110	LZTFL1	54585	HP:0000100	Nephrotic syndrome
ORPHANET:110	LZTFL1	54585	HP:0000639	Nystagmus
ORPHANET:110	LZTFL1	54585	HP:0001513	Obesity
ORPHANET:110	LZTFL1	54585	HP:0000470	Short neck
ORPHANET:110	LZTFL1	54585	HP:0001399	Hepatic failure
ORPHANET:110	LZTFL1	54585	HP:0000147	Polycystic ovaries
ORPHANET:110	LZTFL1	54585	HP:0000512	Abnormal electroretinogram
ORPHANET:110	LZTFL1	54585	HP:0006101	Finger syndactyly
ORPHANET:110	LZTFL1	54585	HP:0000365	Hearing impairment
ORPHANET:110	LZTFL1	54585	HP:0002167	Neurological speech impairment
ORPHANET:110	LZTFL1	54585	HP:0004322	Short stature
ORPHANET:110	LZTFL1	54585	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	LZTFL1	54585	HP:0000822	Hypertension
ORPHANET:110	LZTFL1	54585	HP:0000426	Prominent nasal bridge
ORPHANET:110	LZTFL1	54585	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	LZTFL1	54585	HP:0100543	Cognitive impairment
ORPHANET:110	LZTFL1	54585	HP:0001162	Postaxial hand polydactyly
ORPHANET:110	BBS10	79738	HP:0000003	Multicystic kidney dysplasia
ORPHANET:110	BBS10	79738	HP:0000494	Downslanted palpebral fissures
ORPHANET:110	BBS10	79738	HP:0008736	Hypoplasia of penis
ORPHANET:110	BBS10	79738	HP:0010747	Medial flaring of the eyebrow
ORPHANET:110	BBS10	79738	HP:0000998	Hypertrichosis
ORPHANET:110	BBS10	79738	HP:0000028	Cryptorchidism
ORPHANET:110	BBS10	79738	HP:0000100	Nephrotic syndrome
ORPHANET:110	BBS10	79738	HP:0000639	Nystagmus
ORPHANET:110	BBS10	79738	HP:0001513	Obesity
ORPHANET:110	BBS10	79738	HP:0000470	Short neck
ORPHANET:110	BBS10	79738	HP:0001399	Hepatic failure
ORPHANET:110	BBS10	79738	HP:0000147	Polycystic ovaries
ORPHANET:110	BBS10	79738	HP:0000512	Abnormal electroretinogram
ORPHANET:110	BBS10	79738	HP:0006101	Finger syndactyly
ORPHANET:110	BBS10	79738	HP:0000365	Hearing impairment
ORPHANET:110	BBS10	79738	HP:0002167	Neurological speech impairment
ORPHANET:110	BBS10	79738	HP:0004322	Short stature
ORPHANET:110	BBS10	79738	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:110	BBS10	79738	HP:0000822	Hypertension
ORPHANET:110	BBS10	79738	HP:0000426	Prominent nasal bridge
ORPHANET:110	BBS10	79738	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:110	BBS10	79738	HP:0100543	Cognitive impairment
ORPHANET:110	BBS10	79738	HP:0001162	Postaxial hand polydactyly
OMIM:253250	TRIM37	4591	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:253250	TRIM37	4591	HP:0000316	Hypertelorism
OMIM:253250	TRIM37	4591	HP:0001252	Muscular hypotonia
OMIM:253250	TRIM37	4591	HP:0000486	Strabismus
OMIM:253250	TRIM37	4591	HP:0000580	Pigmentary retinopathy
OMIM:253250	TRIM37	4591	HP:0002240	Hepatomegaly
OMIM:253250	TRIM37	4591	HP:0000268	Dolichocephaly
OMIM:253250	TRIM37	4591	HP:0000431	Wide nasal bridge
OMIM:253250	TRIM37	4591	HP:0001511	Intrauterine growth retardation
OMIM:253250	TRIM37	4591	HP:0000483	Astigmatism
OMIM:253250	TRIM37	4591	HP:0001685	Myocardial fibrosis
OMIM:253250	TRIM37	4591	HP:0000171	Microglossia
OMIM:253250	TRIM37	4591	HP:0000007	Autosomal recessive inheritance
OMIM:253250	TRIM37	4591	HP:0001260	Dysarthria
OMIM:253250	TRIM37	4591	HP:0001620	High pitched voice
OMIM:253250	TRIM37	4591	HP:0004325	Decreased body weight
OMIM:253250	TRIM37	4591	HP:0000325	Triangular face
OMIM:253250	TRIM37	4591	HP:0002119	Ventriculomegaly
OMIM:253250	TRIM37	4591	HP:0000668	Hypodontia
OMIM:253250	TRIM37	4591	HP:0004322	Short stature
OMIM:253250	TRIM37	4591	HP:0000678	Dental crowding
OMIM:253250	TRIM37	4591	HP:0001635	Congestive heart failure
OMIM:253250	TRIM37	4591	HP:0000256	Macrocephaly
OMIM:253250	TRIM37	4591	HP:0001315	Reduced tendon reflexes
OMIM:253250	TRIM37	4591	HP:0005280	Depressed nasal bridge
OMIM:253250	TRIM37	4591	HP:0002007	Frontal bossing
OMIM:253250	TRIM37	4591	HP:0003764	Nevus
OMIM:609135	IFNG	3458	HP:0001915	Aplastic anemia
OMIM:609135	IFNG	3458	HP:0005528	Bone marrow hypocellularity
OMIM:609135	TERC	7012	HP:0001915	Aplastic anemia
OMIM:609135	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:609135	TERT	7015	HP:0001915	Aplastic anemia
OMIM:609135	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:609135	NBN	4683	HP:0001915	Aplastic anemia
OMIM:609135	NBN	4683	HP:0005528	Bone marrow hypocellularity
OMIM:609135	PRF1	5551	HP:0001915	Aplastic anemia
OMIM:609135	PRF1	5551	HP:0005528	Bone marrow hypocellularity
OMIM:609135	SBDS	51119	HP:0001915	Aplastic anemia
OMIM:609135	SBDS	51119	HP:0005528	Bone marrow hypocellularity
OMIM:615780	RLBP1	6017	HP:0000580	Pigmentary retinopathy
OMIM:615780	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:615780	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:615780	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:615780	RLBP1	6017	HP:0000550	Undetectable electroretinogram
OMIM:615780	SPATA7	55812	HP:0000580	Pigmentary retinopathy
OMIM:615780	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:615780	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:615780	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:615780	SPATA7	55812	HP:0000550	Undetectable electroretinogram
OMIM:615780	ARL6	84100	HP:0000580	Pigmentary retinopathy
OMIM:615780	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:615780	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:615780	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:615780	ARL6	84100	HP:0000550	Undetectable electroretinogram
OMIM:615780	CERKL	375298	HP:0000580	Pigmentary retinopathy
OMIM:615780	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:615780	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:615780	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:615780	CERKL	375298	HP:0000550	Undetectable electroretinogram
OMIM:615780	PRPF31	26121	HP:0000580	Pigmentary retinopathy
OMIM:615780	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:615780	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:615780	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:615780	PRPF31	26121	HP:0000550	Undetectable electroretinogram
OMIM:615780	TTC8	123016	HP:0000580	Pigmentary retinopathy
OMIM:615780	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:615780	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:615780	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:615780	TTC8	123016	HP:0000550	Undetectable electroretinogram
OMIM:615780	PROM1	8842	HP:0000580	Pigmentary retinopathy
OMIM:615780	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:615780	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:615780	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:615780	PROM1	8842	HP:0000550	Undetectable electroretinogram
OMIM:615780	LRAT	9227	HP:0000580	Pigmentary retinopathy
OMIM:615780	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:615780	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:615780	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:615780	LRAT	9227	HP:0000550	Undetectable electroretinogram
OMIM:615780	IFT140	9742	HP:0000580	Pigmentary retinopathy
OMIM:615780	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:615780	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:615780	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:615780	IFT140	9742	HP:0000550	Undetectable electroretinogram
OMIM:615780	BEST1	7439	HP:0000580	Pigmentary retinopathy
OMIM:615780	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:615780	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:615780	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:615780	BEST1	7439	HP:0000550	Undetectable electroretinogram
OMIM:615780	NEK2	4751	HP:0000580	Pigmentary retinopathy
OMIM:615780	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:615780	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:615780	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:615780	NEK2	4751	HP:0000550	Undetectable electroretinogram
OMIM:615780	ARL2BP	23568	HP:0000580	Pigmentary retinopathy
OMIM:615780	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:615780	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:615780	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:615780	ARL2BP	23568	HP:0000550	Undetectable electroretinogram
OMIM:615780	NR2E3	10002	HP:0000580	Pigmentary retinopathy
OMIM:615780	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:615780	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:615780	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:615780	NR2E3	10002	HP:0000550	Undetectable electroretinogram
OMIM:615780	EYS	346007	HP:0000580	Pigmentary retinopathy
OMIM:615780	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:615780	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:615780	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:615780	EYS	346007	HP:0000550	Undetectable electroretinogram
OMIM:615780	MAK	4117	HP:0000580	Pigmentary retinopathy
OMIM:615780	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:615780	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:615780	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:615780	MAK	4117	HP:0000550	Undetectable electroretinogram
OMIM:615780	SAG	6295	HP:0000580	Pigmentary retinopathy
OMIM:615780	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:615780	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:615780	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:615780	SAG	6295	HP:0000550	Undetectable electroretinogram
OMIM:615780	ABCA4	24	HP:0000580	Pigmentary retinopathy
OMIM:615780	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:615780	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:615780	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:615780	ABCA4	24	HP:0000550	Undetectable electroretinogram
OMIM:615780	PDE6A	5145	HP:0000580	Pigmentary retinopathy
OMIM:615780	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:615780	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:615780	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:615780	PDE6A	5145	HP:0000550	Undetectable electroretinogram
OMIM:615780	PDE6G	5148	HP:0000580	Pigmentary retinopathy
OMIM:615780	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:615780	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:615780	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:615780	PDE6G	5148	HP:0000550	Undetectable electroretinogram
OMIM:615780	IMPDH1	3614	HP:0000580	Pigmentary retinopathy
OMIM:615780	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:615780	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:615780	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:615780	IMPDH1	3614	HP:0000550	Undetectable electroretinogram
OMIM:615780	OFD1	8481	HP:0000580	Pigmentary retinopathy
OMIM:615780	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:615780	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:615780	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615780	OFD1	8481	HP:0000550	Undetectable electroretinogram
OMIM:615780	GUCA1B	2979	HP:0000580	Pigmentary retinopathy
OMIM:615780	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:615780	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:615780	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:615780	GUCA1B	2979	HP:0000550	Undetectable electroretinogram
OMIM:615780	NRL	4901	HP:0000580	Pigmentary retinopathy
OMIM:615780	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:615780	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:615780	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:615780	NRL	4901	HP:0000550	Undetectable electroretinogram
OMIM:615780	PDE6B	5158	HP:0000580	Pigmentary retinopathy
OMIM:615780	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:615780	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:615780	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:615780	PDE6B	5158	HP:0000550	Undetectable electroretinogram
OMIM:615780	KLHL7	55975	HP:0000580	Pigmentary retinopathy
OMIM:615780	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:615780	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:615780	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:615780	KLHL7	55975	HP:0000550	Undetectable electroretinogram
OMIM:615780	PRPF4	9128	HP:0000580	Pigmentary retinopathy
OMIM:615780	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:615780	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:615780	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:615780	PRPF4	9128	HP:0000550	Undetectable electroretinogram
OMIM:615780	PRPF3	9129	HP:0000580	Pigmentary retinopathy
OMIM:615780	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:615780	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:615780	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:615780	PRPF3	9129	HP:0000550	Undetectable electroretinogram
OMIM:615780	FAM161A	84140	HP:0000580	Pigmentary retinopathy
OMIM:615780	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:615780	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:615780	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:615780	FAM161A	84140	HP:0000550	Undetectable electroretinogram
OMIM:615780	IFT172	26160	HP:0000580	Pigmentary retinopathy
OMIM:615780	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:615780	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:615780	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:615780	IFT172	26160	HP:0000550	Undetectable electroretinogram
OMIM:615780	KIZ	55857	HP:0000580	Pigmentary retinopathy
OMIM:615780	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:615780	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:615780	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:615780	KIZ	55857	HP:0000550	Undetectable electroretinogram
OMIM:615780	CDHR1	92211	HP:0000580	Pigmentary retinopathy
OMIM:615780	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:615780	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:615780	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:615780	CDHR1	92211	HP:0000550	Undetectable electroretinogram
OMIM:615780	ZNF408	79797	HP:0000580	Pigmentary retinopathy
OMIM:615780	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:615780	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:615780	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:615780	ZNF408	79797	HP:0000550	Undetectable electroretinogram
OMIM:615780	RBP3	5949	HP:0000580	Pigmentary retinopathy
OMIM:615780	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:615780	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:615780	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:615780	RBP3	5949	HP:0000550	Undetectable electroretinogram
OMIM:615780	HGSNAT	138050	HP:0000580	Pigmentary retinopathy
OMIM:615780	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:615780	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:615780	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:615780	HGSNAT	138050	HP:0000550	Undetectable electroretinogram
OMIM:615780	FSCN2	25794	HP:0000580	Pigmentary retinopathy
OMIM:615780	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:615780	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:615780	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:615780	FSCN2	25794	HP:0000550	Undetectable electroretinogram
OMIM:615780	PRCD	768206	HP:0000580	Pigmentary retinopathy
OMIM:615780	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:615780	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:615780	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:615780	PRCD	768206	HP:0000550	Undetectable electroretinogram
OMIM:615780	BBS2	583	HP:0000580	Pigmentary retinopathy
OMIM:615780	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:615780	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:615780	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:615780	BBS2	583	HP:0000550	Undetectable electroretinogram
OMIM:615780	RDH12	145226	HP:0000580	Pigmentary retinopathy
OMIM:615780	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:615780	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:615780	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:615780	RDH12	145226	HP:0000550	Undetectable electroretinogram
OMIM:615780	PRPH2	5961	HP:0000580	Pigmentary retinopathy
OMIM:615780	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:615780	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:615780	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:615780	PRPH2	5961	HP:0000550	Undetectable electroretinogram
OMIM:615780	DHDDS	79947	HP:0000580	Pigmentary retinopathy
OMIM:615780	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:615780	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:615780	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:615780	DHDDS	79947	HP:0000550	Undetectable electroretinogram
OMIM:615780	ROM1	6094	HP:0000580	Pigmentary retinopathy
OMIM:615780	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:615780	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:615780	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:615780	ROM1	6094	HP:0000550	Undetectable electroretinogram
OMIM:615780	C2ORF71	388939	HP:0000580	Pigmentary retinopathy
OMIM:615780	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:615780	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:615780	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:615780	C2ORF71	388939	HP:0000550	Undetectable electroretinogram
OMIM:615780	RP9	6100	HP:0000580	Pigmentary retinopathy
OMIM:615780	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:615780	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:615780	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:615780	RP9	6100	HP:0000550	Undetectable electroretinogram
OMIM:615780	PRPF6	24148	HP:0000580	Pigmentary retinopathy
OMIM:615780	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:615780	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:615780	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:615780	PRPF6	24148	HP:0000550	Undetectable electroretinogram
OMIM:615780	RP1	6101	HP:0000580	Pigmentary retinopathy
OMIM:615780	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:615780	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:615780	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:615780	RP1	6101	HP:0000550	Undetectable electroretinogram
OMIM:615780	RP2	6102	HP:0000580	Pigmentary retinopathy
OMIM:615780	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:615780	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:615780	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:615780	RP2	6102	HP:0000550	Undetectable electroretinogram
OMIM:615780	RPGR	6103	HP:0000580	Pigmentary retinopathy
OMIM:615780	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:615780	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:615780	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615780	RPGR	6103	HP:0000550	Undetectable electroretinogram
OMIM:615780	SEMA4A	64218	HP:0000580	Pigmentary retinopathy
OMIM:615780	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:615780	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:615780	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:615780	SEMA4A	64218	HP:0000550	Undetectable electroretinogram
OMIM:615780	C8ORF37	157657	HP:0000580	Pigmentary retinopathy
OMIM:615780	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:615780	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:615780	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:615780	C8ORF37	157657	HP:0000550	Undetectable electroretinogram
OMIM:615780	IDH3B	3420	HP:0000580	Pigmentary retinopathy
OMIM:615780	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:615780	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:615780	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:615780	IDH3B	3420	HP:0000550	Undetectable electroretinogram
OMIM:615780	MERTK	10461	HP:0000580	Pigmentary retinopathy
OMIM:615780	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:615780	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:615780	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:615780	MERTK	10461	HP:0000550	Undetectable electroretinogram
OMIM:615780	PRPF8	10594	HP:0000580	Pigmentary retinopathy
OMIM:615780	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:615780	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:615780	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:615780	PRPF8	10594	HP:0000550	Undetectable electroretinogram
OMIM:615780	TOPORS	10210	HP:0000580	Pigmentary retinopathy
OMIM:615780	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:615780	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:615780	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:615780	TOPORS	10210	HP:0000550	Undetectable electroretinogram
OMIM:615780	USH2A	7399	HP:0000580	Pigmentary retinopathy
OMIM:615780	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:615780	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:615780	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:615780	USH2A	7399	HP:0000550	Undetectable electroretinogram
OMIM:615780	RPE65	6121	HP:0000580	Pigmentary retinopathy
OMIM:615780	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:615780	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:615780	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:615780	RPE65	6121	HP:0000550	Undetectable electroretinogram
OMIM:615780	CLRN1	7401	HP:0000580	Pigmentary retinopathy
OMIM:615780	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:615780	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:615780	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:615780	CLRN1	7401	HP:0000550	Undetectable electroretinogram
OMIM:615780	CNGB1	1258	HP:0000580	Pigmentary retinopathy
OMIM:615780	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:615780	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:615780	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:615780	CNGB1	1258	HP:0000550	Undetectable electroretinogram
OMIM:615780	RGR	5995	HP:0000580	Pigmentary retinopathy
OMIM:615780	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:615780	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:615780	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:615780	RGR	5995	HP:0000550	Undetectable electroretinogram
OMIM:615780	CNGA1	1259	HP:0000580	Pigmentary retinopathy
OMIM:615780	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:615780	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:615780	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:615780	CNGA1	1259	HP:0000550	Undetectable electroretinogram
OMIM:615780	TUB	7275	HP:0000580	Pigmentary retinopathy
OMIM:615780	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:615780	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:615780	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:615780	TUB	7275	HP:0000550	Undetectable electroretinogram
OMIM:615780	SNRNP200	23020	HP:0000580	Pigmentary retinopathy
OMIM:615780	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:615780	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:615780	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:615780	SNRNP200	23020	HP:0000550	Undetectable electroretinogram
OMIM:615780	SLC7A14	57709	HP:0000580	Pigmentary retinopathy
OMIM:615780	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:615780	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:615780	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:615780	SLC7A14	57709	HP:0000550	Undetectable electroretinogram
OMIM:615780	TULP1	7287	HP:0000580	Pigmentary retinopathy
OMIM:615780	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:615780	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:615780	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:615780	TULP1	7287	HP:0000550	Undetectable electroretinogram
OMIM:615780	RHO	6010	HP:0000580	Pigmentary retinopathy
OMIM:615780	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:615780	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:615780	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:615780	RHO	6010	HP:0000550	Undetectable electroretinogram
OMIM:615780	CA4	762	HP:0000580	Pigmentary retinopathy
OMIM:615780	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:615780	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:615780	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:615780	CA4	762	HP:0000550	Undetectable electroretinogram
OMIM:615780	CRB1	23418	HP:0000580	Pigmentary retinopathy
OMIM:615780	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:615780	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:615780	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:615780	CRB1	23418	HP:0000550	Undetectable electroretinogram
OMIM:615780	IMPG2	50939	HP:0000580	Pigmentary retinopathy
OMIM:615780	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:615780	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:615780	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:615780	IMPG2	50939	HP:0000550	Undetectable electroretinogram
OMIM:615780	ZNF513	130557	HP:0000580	Pigmentary retinopathy
OMIM:615780	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:615780	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:615780	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:615780	ZNF513	130557	HP:0000550	Undetectable electroretinogram
OMIM:615780	CRX	1406	HP:0000580	Pigmentary retinopathy
OMIM:615780	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:615780	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:615780	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:615780	CRX	1406	HP:0000550	Undetectable electroretinogram
ORPHANET:1980	PDGFB	5155	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1980	PDGFB	5155	HP:0001873	Thrombocytopenia
ORPHANET:1980	PDGFB	5155	HP:0007759	Opacification of the corneal stroma
ORPHANET:1980	PDGFB	5155	HP:0001511	Intrauterine growth retardation
ORPHANET:1980	PDGFB	5155	HP:0002119	Ventriculomegaly
ORPHANET:1980	PDGFB	5155	HP:0002240	Hepatomegaly
ORPHANET:1980	PDGFB	5155	HP:0002269	Abnormality of neuronal migration
ORPHANET:1980	PDGFB	5155	HP:0001250	Seizures
ORPHANET:1980	PDGFB	5155	HP:0002514	Cerebral calcification
ORPHANET:1980	PDGFB	5155	HP:0000252	Microcephaly
ORPHANET:1980	PDGFRB	5159	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1980	PDGFRB	5159	HP:0001873	Thrombocytopenia
ORPHANET:1980	PDGFRB	5159	HP:0007759	Opacification of the corneal stroma
ORPHANET:1980	PDGFRB	5159	HP:0001511	Intrauterine growth retardation
ORPHANET:1980	PDGFRB	5159	HP:0002119	Ventriculomegaly
ORPHANET:1980	PDGFRB	5159	HP:0002240	Hepatomegaly
ORPHANET:1980	PDGFRB	5159	HP:0002269	Abnormality of neuronal migration
ORPHANET:1980	PDGFRB	5159	HP:0001250	Seizures
ORPHANET:1980	PDGFRB	5159	HP:0002514	Cerebral calcification
ORPHANET:1980	PDGFRB	5159	HP:0000252	Microcephaly
ORPHANET:1980	XPR1	9213	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1980	XPR1	9213	HP:0001873	Thrombocytopenia
ORPHANET:1980	XPR1	9213	HP:0007759	Opacification of the corneal stroma
ORPHANET:1980	XPR1	9213	HP:0001511	Intrauterine growth retardation
ORPHANET:1980	XPR1	9213	HP:0002119	Ventriculomegaly
ORPHANET:1980	XPR1	9213	HP:0002240	Hepatomegaly
ORPHANET:1980	XPR1	9213	HP:0002269	Abnormality of neuronal migration
ORPHANET:1980	XPR1	9213	HP:0001250	Seizures
ORPHANET:1980	XPR1	9213	HP:0002514	Cerebral calcification
ORPHANET:1980	XPR1	9213	HP:0000252	Microcephaly
ORPHANET:1980	SLC20A2	6575	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1980	SLC20A2	6575	HP:0001873	Thrombocytopenia
ORPHANET:1980	SLC20A2	6575	HP:0007759	Opacification of the corneal stroma
ORPHANET:1980	SLC20A2	6575	HP:0001511	Intrauterine growth retardation
ORPHANET:1980	SLC20A2	6575	HP:0002119	Ventriculomegaly
ORPHANET:1980	SLC20A2	6575	HP:0002240	Hepatomegaly
ORPHANET:1980	SLC20A2	6575	HP:0002269	Abnormality of neuronal migration
ORPHANET:1980	SLC20A2	6575	HP:0001250	Seizures
ORPHANET:1980	SLC20A2	6575	HP:0002514	Cerebral calcification
ORPHANET:1980	SLC20A2	6575	HP:0000252	Microcephaly
ORPHANET:7	CCDC22	28952	HP:0000316	Hypertelorism
ORPHANET:7	CCDC22	28952	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:7	CCDC22	28952	HP:0002205	Recurrent respiratory infections
ORPHANET:7	CCDC22	28952	HP:0000384	Preauricular skin tag
ORPHANET:7	CCDC22	28952	HP:0000567	Chorioretinal coloboma
ORPHANET:7	CCDC22	28952	HP:0004322	Short stature
ORPHANET:7	CCDC22	28952	HP:0002167	Neurological speech impairment
ORPHANET:7	CCDC22	28952	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:7	CCDC22	28952	HP:0001252	Muscular hypotonia
ORPHANET:7	CCDC22	28952	HP:0000431	Wide nasal bridge
ORPHANET:7	CCDC22	28952	HP:0008736	Hypoplasia of penis
ORPHANET:7	CCDC22	28952	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:7	CCDC22	28952	HP:0000256	Macrocephaly
ORPHANET:7	CCDC22	28952	HP:0002007	Frontal bossing
ORPHANET:7	CCDC22	28952	HP:0001305	Dandy-Walker malformation
ORPHANET:7	CCDC22	28952	HP:0006101	Finger syndactyly
ORPHANET:7	CCDC22	28952	HP:0000612	Iris coloboma
ORPHANET:7	CCDC22	28952	HP:0001161	Hand polydactyly
ORPHANET:7	CCDC22	28952	HP:0002650	Scoliosis
ORPHANET:7	CCDC22	28952	HP:0001679	Abnormality of the aorta
ORPHANET:7	CCDC22	28952	HP:0001633	Abnormality of the mitral valve
ORPHANET:7	CCDC22	28952	HP:0000238	Hydrocephalus
ORPHANET:7	CCDC22	28952	HP:0008207	Primary adrenal insufficiency
ORPHANET:7	CCDC22	28952	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:7	CCDC22	28952	HP:0004383	Hypoplastic left heart
ORPHANET:7	CCDC22	28952	HP:0001629	Ventricular septal defect
ORPHANET:7	CCDC22	28952	HP:0003272	Abnormality of the hip bone
ORPHANET:7	CCDC22	28952	HP:0003422	Vertebral segmentation defect
ORPHANET:7	CCDC22	28952	HP:0100627	Displacement of the external urethral meatus
ORPHANET:7	CCDC22	28952	HP:0001231	Abnormality of the fingernails
ORPHANET:7	CCDC22	28952	HP:0001631	Atria septal defect
ORPHANET:7	CCDC22	28952	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:7	CCDC22	28952	HP:0100543	Cognitive impairment
ORPHANET:7	CCDC22	28952	HP:0100589	Urogenital fistula
ORPHANET:7	CCDC22	28952	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:7	CCDC22	28952	HP:0000648	Optic atrophy
ORPHANET:7	CCDC22	28952	HP:0000269	Prominent occiput
ORPHANET:7	CCDC22	28952	HP:0002808	Kyphosis
ORPHANET:7	CCDC22	28952	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHANET:7	CCDC22	28952	HP:0000175	Cleft palate
ORPHANET:7	CCDC22	28952	HP:0001636	Tetralogy of Fallot
ORPHANET:7	CCDC22	28952	HP:0000347	Micrognathia
ORPHANET:7	CCDC22	28952	HP:0004299	Hernia of the abdominal wall
ORPHANET:7	CCDC22	28952	HP:0000470	Short neck
ORPHANET:7	CCDC22	28952	HP:0000772	Abnormality of the ribs
ORPHANET:7	CCDC22	28952	HP:0005280	Depressed nasal bridge
ORPHANET:7	CCDC22	28952	HP:0000501	Glaucoma
ORPHANET:7	CCDC22	28952	HP:0000494	Downslanted palpebral fissures
ORPHANET:7	CCDC22	28952	HP:0002269	Abnormality of neuronal migration
ORPHANET:7	CCDC22	28952	HP:0001156	Brachydactyly syndrome
ORPHANET:7	CCDC22	28952	HP:0002566	Intestinal malrotation
ORPHANET:7	CCDC22	28952	HP:0001674	Complete atrioventricular canal defect
ORPHANET:7	CCDC22	28952	HP:0003196	Short nose
ORPHANET:7	KIAA0196	9897	HP:0000316	Hypertelorism
ORPHANET:7	KIAA0196	9897	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:7	KIAA0196	9897	HP:0002205	Recurrent respiratory infections
ORPHANET:7	KIAA0196	9897	HP:0000384	Preauricular skin tag
ORPHANET:7	KIAA0196	9897	HP:0000567	Chorioretinal coloboma
ORPHANET:7	KIAA0196	9897	HP:0004322	Short stature
ORPHANET:7	KIAA0196	9897	HP:0002167	Neurological speech impairment
ORPHANET:7	KIAA0196	9897	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:7	KIAA0196	9897	HP:0001252	Muscular hypotonia
ORPHANET:7	KIAA0196	9897	HP:0000431	Wide nasal bridge
ORPHANET:7	KIAA0196	9897	HP:0008736	Hypoplasia of penis
ORPHANET:7	KIAA0196	9897	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:7	KIAA0196	9897	HP:0000256	Macrocephaly
ORPHANET:7	KIAA0196	9897	HP:0002007	Frontal bossing
ORPHANET:7	KIAA0196	9897	HP:0001305	Dandy-Walker malformation
ORPHANET:7	KIAA0196	9897	HP:0006101	Finger syndactyly
ORPHANET:7	KIAA0196	9897	HP:0000612	Iris coloboma
ORPHANET:7	KIAA0196	9897	HP:0001161	Hand polydactyly
ORPHANET:7	KIAA0196	9897	HP:0002650	Scoliosis
ORPHANET:7	KIAA0196	9897	HP:0001679	Abnormality of the aorta
ORPHANET:7	KIAA0196	9897	HP:0001633	Abnormality of the mitral valve
ORPHANET:7	KIAA0196	9897	HP:0000238	Hydrocephalus
ORPHANET:7	KIAA0196	9897	HP:0008207	Primary adrenal insufficiency
ORPHANET:7	KIAA0196	9897	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:7	KIAA0196	9897	HP:0004383	Hypoplastic left heart
ORPHANET:7	KIAA0196	9897	HP:0001629	Ventricular septal defect
ORPHANET:7	KIAA0196	9897	HP:0003272	Abnormality of the hip bone
ORPHANET:7	KIAA0196	9897	HP:0003422	Vertebral segmentation defect
ORPHANET:7	KIAA0196	9897	HP:0100627	Displacement of the external urethral meatus
ORPHANET:7	KIAA0196	9897	HP:0001231	Abnormality of the fingernails
ORPHANET:7	KIAA0196	9897	HP:0001631	Atria septal defect
ORPHANET:7	KIAA0196	9897	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:7	KIAA0196	9897	HP:0100543	Cognitive impairment
ORPHANET:7	KIAA0196	9897	HP:0100589	Urogenital fistula
ORPHANET:7	KIAA0196	9897	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:7	KIAA0196	9897	HP:0000648	Optic atrophy
ORPHANET:7	KIAA0196	9897	HP:0000269	Prominent occiput
ORPHANET:7	KIAA0196	9897	HP:0002808	Kyphosis
ORPHANET:7	KIAA0196	9897	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHANET:7	KIAA0196	9897	HP:0000175	Cleft palate
ORPHANET:7	KIAA0196	9897	HP:0001636	Tetralogy of Fallot
ORPHANET:7	KIAA0196	9897	HP:0000347	Micrognathia
ORPHANET:7	KIAA0196	9897	HP:0004299	Hernia of the abdominal wall
ORPHANET:7	KIAA0196	9897	HP:0000470	Short neck
ORPHANET:7	KIAA0196	9897	HP:0000772	Abnormality of the ribs
ORPHANET:7	KIAA0196	9897	HP:0005280	Depressed nasal bridge
ORPHANET:7	KIAA0196	9897	HP:0000501	Glaucoma
ORPHANET:7	KIAA0196	9897	HP:0000494	Downslanted palpebral fissures
ORPHANET:7	KIAA0196	9897	HP:0002269	Abnormality of neuronal migration
ORPHANET:7	KIAA0196	9897	HP:0001156	Brachydactyly syndrome
ORPHANET:7	KIAA0196	9897	HP:0002566	Intestinal malrotation
ORPHANET:7	KIAA0196	9897	HP:0001674	Complete atrioventricular canal defect
ORPHANET:7	KIAA0196	9897	HP:0003196	Short nose
OMIM:271600	TRAPPC2	6399	HP:0004322	Short stature
OMIM:271600	TRAPPC2	6399	HP:0000007	Autosomal recessive inheritance
OMIM:271600	TRAPPC2	6399	HP:0000926	Platyspondyly
OMIM:615059	RPL21	6144	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615059	RPL21	6144	HP:0200102	Sparse or absent eyelashes
OMIM:615059	RPL21	6144	HP:0000006	Autosomal dominant inheritance
OMIM:615059	LPAR6	10161	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615059	LPAR6	10161	HP:0200102	Sparse or absent eyelashes
OMIM:615059	LPAR6	10161	HP:0000006	Autosomal dominant inheritance
OMIM:615059	DSG4	147409	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615059	DSG4	147409	HP:0200102	Sparse or absent eyelashes
OMIM:615059	DSG4	147409	HP:0000006	Autosomal dominant inheritance
OMIM:615059	APCDD1	147495	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615059	APCDD1	147495	HP:0200102	Sparse or absent eyelashes
OMIM:615059	APCDD1	147495	HP:0000006	Autosomal dominant inheritance
OMIM:615059	SNRPE	6635	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615059	SNRPE	6635	HP:0200102	Sparse or absent eyelashes
OMIM:615059	SNRPE	6635	HP:0000006	Autosomal dominant inheritance
OMIM:615059	LIPH	200879	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615059	LIPH	200879	HP:0200102	Sparse or absent eyelashes
OMIM:615059	LIPH	200879	HP:0000006	Autosomal dominant inheritance
OMIM:614563	MBD5	55777	HP:0000252	Microcephaly
OMIM:614563	MBD5	55777	HP:0011220	Prominent forehead
OMIM:614563	MBD5	55777	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	MBD5	55777	HP:0002510	Spastic tetraplegia
OMIM:614563	MBD5	55777	HP:0007359	Focal seizures
OMIM:614563	MBD5	55777	HP:0001302	Pachygyria
OMIM:614563	MBD5	55777	HP:0200055	Small hand
OMIM:614563	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:614563	MBD5	55777	HP:0001250	Seizures
OMIM:614563	MBD5	55777	HP:0000494	Downslanted palpebral fissures
OMIM:614563	MBD5	55777	HP:0001357	Plagiocephaly
OMIM:614563	MBD5	55777	HP:0001760	Abnormality of the foot
OMIM:614563	MBD5	55777	HP:0001265	Hyporeflexia
OMIM:614563	MBD5	55777	HP:0001288	Gait disturbance
OMIM:614563	MBD5	55777	HP:0001321	Cerebellar hypoplasia
OMIM:614563	MBD5	55777	HP:0001252	Muscular hypotonia
OMIM:614563	MBD5	55777	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	MBD5	55777	HP:0001249	Intellectual disability
OMIM:614563	MBD5	55777	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	CACNG2	10369	HP:0000252	Microcephaly
OMIM:614563	CACNG2	10369	HP:0011220	Prominent forehead
OMIM:614563	CACNG2	10369	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	CACNG2	10369	HP:0002510	Spastic tetraplegia
OMIM:614563	CACNG2	10369	HP:0007359	Focal seizures
OMIM:614563	CACNG2	10369	HP:0001302	Pachygyria
OMIM:614563	CACNG2	10369	HP:0200055	Small hand
OMIM:614563	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:614563	CACNG2	10369	HP:0001250	Seizures
OMIM:614563	CACNG2	10369	HP:0000494	Downslanted palpebral fissures
OMIM:614563	CACNG2	10369	HP:0001357	Plagiocephaly
OMIM:614563	CACNG2	10369	HP:0001760	Abnormality of the foot
OMIM:614563	CACNG2	10369	HP:0001265	Hyporeflexia
OMIM:614563	CACNG2	10369	HP:0001288	Gait disturbance
OMIM:614563	CACNG2	10369	HP:0001321	Cerebellar hypoplasia
OMIM:614563	CACNG2	10369	HP:0001252	Muscular hypotonia
OMIM:614563	CACNG2	10369	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:614563	CACNG2	10369	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	DYRK1A	1859	HP:0000252	Microcephaly
OMIM:614563	DYRK1A	1859	HP:0011220	Prominent forehead
OMIM:614563	DYRK1A	1859	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	DYRK1A	1859	HP:0002510	Spastic tetraplegia
OMIM:614563	DYRK1A	1859	HP:0007359	Focal seizures
OMIM:614563	DYRK1A	1859	HP:0001302	Pachygyria
OMIM:614563	DYRK1A	1859	HP:0200055	Small hand
OMIM:614563	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:614563	DYRK1A	1859	HP:0001250	Seizures
OMIM:614563	DYRK1A	1859	HP:0000494	Downslanted palpebral fissures
OMIM:614563	DYRK1A	1859	HP:0001357	Plagiocephaly
OMIM:614563	DYRK1A	1859	HP:0001760	Abnormality of the foot
OMIM:614563	DYRK1A	1859	HP:0001265	Hyporeflexia
OMIM:614563	DYRK1A	1859	HP:0001288	Gait disturbance
OMIM:614563	DYRK1A	1859	HP:0001321	Cerebellar hypoplasia
OMIM:614563	DYRK1A	1859	HP:0001252	Muscular hypotonia
OMIM:614563	DYRK1A	1859	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:614563	DYRK1A	1859	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	KIF1A	547	HP:0000252	Microcephaly
OMIM:614563	KIF1A	547	HP:0011220	Prominent forehead
OMIM:614563	KIF1A	547	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	KIF1A	547	HP:0002510	Spastic tetraplegia
OMIM:614563	KIF1A	547	HP:0007359	Focal seizures
OMIM:614563	KIF1A	547	HP:0001302	Pachygyria
OMIM:614563	KIF1A	547	HP:0200055	Small hand
OMIM:614563	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:614563	KIF1A	547	HP:0001250	Seizures
OMIM:614563	KIF1A	547	HP:0000494	Downslanted palpebral fissures
OMIM:614563	KIF1A	547	HP:0001357	Plagiocephaly
OMIM:614563	KIF1A	547	HP:0001760	Abnormality of the foot
OMIM:614563	KIF1A	547	HP:0001265	Hyporeflexia
OMIM:614563	KIF1A	547	HP:0001288	Gait disturbance
OMIM:614563	KIF1A	547	HP:0001321	Cerebellar hypoplasia
OMIM:614563	KIF1A	547	HP:0001252	Muscular hypotonia
OMIM:614563	KIF1A	547	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	KIF1A	547	HP:0001249	Intellectual disability
OMIM:614563	KIF1A	547	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	DOCK8	81704	HP:0000252	Microcephaly
OMIM:614563	DOCK8	81704	HP:0011220	Prominent forehead
OMIM:614563	DOCK8	81704	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	DOCK8	81704	HP:0002510	Spastic tetraplegia
OMIM:614563	DOCK8	81704	HP:0007359	Focal seizures
OMIM:614563	DOCK8	81704	HP:0001302	Pachygyria
OMIM:614563	DOCK8	81704	HP:0200055	Small hand
OMIM:614563	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:614563	DOCK8	81704	HP:0001250	Seizures
OMIM:614563	DOCK8	81704	HP:0000494	Downslanted palpebral fissures
OMIM:614563	DOCK8	81704	HP:0001357	Plagiocephaly
OMIM:614563	DOCK8	81704	HP:0001760	Abnormality of the foot
OMIM:614563	DOCK8	81704	HP:0001265	Hyporeflexia
OMIM:614563	DOCK8	81704	HP:0001288	Gait disturbance
OMIM:614563	DOCK8	81704	HP:0001321	Cerebellar hypoplasia
OMIM:614563	DOCK8	81704	HP:0001252	Muscular hypotonia
OMIM:614563	DOCK8	81704	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:614563	DOCK8	81704	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	TCF4	6925	HP:0000252	Microcephaly
OMIM:614563	TCF4	6925	HP:0011220	Prominent forehead
OMIM:614563	TCF4	6925	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	TCF4	6925	HP:0002510	Spastic tetraplegia
OMIM:614563	TCF4	6925	HP:0007359	Focal seizures
OMIM:614563	TCF4	6925	HP:0001302	Pachygyria
OMIM:614563	TCF4	6925	HP:0200055	Small hand
OMIM:614563	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:614563	TCF4	6925	HP:0001250	Seizures
OMIM:614563	TCF4	6925	HP:0000494	Downslanted palpebral fissures
OMIM:614563	TCF4	6925	HP:0001357	Plagiocephaly
OMIM:614563	TCF4	6925	HP:0001760	Abnormality of the foot
OMIM:614563	TCF4	6925	HP:0001265	Hyporeflexia
OMIM:614563	TCF4	6925	HP:0001288	Gait disturbance
OMIM:614563	TCF4	6925	HP:0001321	Cerebellar hypoplasia
OMIM:614563	TCF4	6925	HP:0001252	Muscular hypotonia
OMIM:614563	TCF4	6925	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	TCF4	6925	HP:0001249	Intellectual disability
OMIM:614563	TCF4	6925	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	KIRREL3	84623	HP:0000252	Microcephaly
OMIM:614563	KIRREL3	84623	HP:0011220	Prominent forehead
OMIM:614563	KIRREL3	84623	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	KIRREL3	84623	HP:0002510	Spastic tetraplegia
OMIM:614563	KIRREL3	84623	HP:0007359	Focal seizures
OMIM:614563	KIRREL3	84623	HP:0001302	Pachygyria
OMIM:614563	KIRREL3	84623	HP:0200055	Small hand
OMIM:614563	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:614563	KIRREL3	84623	HP:0001250	Seizures
OMIM:614563	KIRREL3	84623	HP:0000494	Downslanted palpebral fissures
OMIM:614563	KIRREL3	84623	HP:0001357	Plagiocephaly
OMIM:614563	KIRREL3	84623	HP:0001760	Abnormality of the foot
OMIM:614563	KIRREL3	84623	HP:0001265	Hyporeflexia
OMIM:614563	KIRREL3	84623	HP:0001288	Gait disturbance
OMIM:614563	KIRREL3	84623	HP:0001321	Cerebellar hypoplasia
OMIM:614563	KIRREL3	84623	HP:0001252	Muscular hypotonia
OMIM:614563	KIRREL3	84623	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:614563	KIRREL3	84623	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	DYNC1H1	1778	HP:0000252	Microcephaly
OMIM:614563	DYNC1H1	1778	HP:0011220	Prominent forehead
OMIM:614563	DYNC1H1	1778	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	DYNC1H1	1778	HP:0002510	Spastic tetraplegia
OMIM:614563	DYNC1H1	1778	HP:0007359	Focal seizures
OMIM:614563	DYNC1H1	1778	HP:0001302	Pachygyria
OMIM:614563	DYNC1H1	1778	HP:0200055	Small hand
OMIM:614563	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:614563	DYNC1H1	1778	HP:0001250	Seizures
OMIM:614563	DYNC1H1	1778	HP:0000494	Downslanted palpebral fissures
OMIM:614563	DYNC1H1	1778	HP:0001357	Plagiocephaly
OMIM:614563	DYNC1H1	1778	HP:0001760	Abnormality of the foot
OMIM:614563	DYNC1H1	1778	HP:0001265	Hyporeflexia
OMIM:614563	DYNC1H1	1778	HP:0001288	Gait disturbance
OMIM:614563	DYNC1H1	1778	HP:0001321	Cerebellar hypoplasia
OMIM:614563	DYNC1H1	1778	HP:0001252	Muscular hypotonia
OMIM:614563	DYNC1H1	1778	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:614563	DYNC1H1	1778	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	EPB41L1	2036	HP:0000252	Microcephaly
OMIM:614563	EPB41L1	2036	HP:0011220	Prominent forehead
OMIM:614563	EPB41L1	2036	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	EPB41L1	2036	HP:0002510	Spastic tetraplegia
OMIM:614563	EPB41L1	2036	HP:0007359	Focal seizures
OMIM:614563	EPB41L1	2036	HP:0001302	Pachygyria
OMIM:614563	EPB41L1	2036	HP:0200055	Small hand
OMIM:614563	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:614563	EPB41L1	2036	HP:0001250	Seizures
OMIM:614563	EPB41L1	2036	HP:0000494	Downslanted palpebral fissures
OMIM:614563	EPB41L1	2036	HP:0001357	Plagiocephaly
OMIM:614563	EPB41L1	2036	HP:0001760	Abnormality of the foot
OMIM:614563	EPB41L1	2036	HP:0001265	Hyporeflexia
OMIM:614563	EPB41L1	2036	HP:0001288	Gait disturbance
OMIM:614563	EPB41L1	2036	HP:0001321	Cerebellar hypoplasia
OMIM:614563	EPB41L1	2036	HP:0001252	Muscular hypotonia
OMIM:614563	EPB41L1	2036	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:614563	EPB41L1	2036	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	CDH15	1013	HP:0000252	Microcephaly
OMIM:614563	CDH15	1013	HP:0011220	Prominent forehead
OMIM:614563	CDH15	1013	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	CDH15	1013	HP:0002510	Spastic tetraplegia
OMIM:614563	CDH15	1013	HP:0007359	Focal seizures
OMIM:614563	CDH15	1013	HP:0001302	Pachygyria
OMIM:614563	CDH15	1013	HP:0200055	Small hand
OMIM:614563	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:614563	CDH15	1013	HP:0001250	Seizures
OMIM:614563	CDH15	1013	HP:0000494	Downslanted palpebral fissures
OMIM:614563	CDH15	1013	HP:0001357	Plagiocephaly
OMIM:614563	CDH15	1013	HP:0001760	Abnormality of the foot
OMIM:614563	CDH15	1013	HP:0001265	Hyporeflexia
OMIM:614563	CDH15	1013	HP:0001288	Gait disturbance
OMIM:614563	CDH15	1013	HP:0001321	Cerebellar hypoplasia
OMIM:614563	CDH15	1013	HP:0001252	Muscular hypotonia
OMIM:614563	CDH15	1013	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	CDH15	1013	HP:0001249	Intellectual disability
OMIM:614563	CDH15	1013	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	GRIN1	2902	HP:0000252	Microcephaly
OMIM:614563	GRIN1	2902	HP:0011220	Prominent forehead
OMIM:614563	GRIN1	2902	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	GRIN1	2902	HP:0002510	Spastic tetraplegia
OMIM:614563	GRIN1	2902	HP:0007359	Focal seizures
OMIM:614563	GRIN1	2902	HP:0001302	Pachygyria
OMIM:614563	GRIN1	2902	HP:0200055	Small hand
OMIM:614563	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:614563	GRIN1	2902	HP:0001250	Seizures
OMIM:614563	GRIN1	2902	HP:0000494	Downslanted palpebral fissures
OMIM:614563	GRIN1	2902	HP:0001357	Plagiocephaly
OMIM:614563	GRIN1	2902	HP:0001760	Abnormality of the foot
OMIM:614563	GRIN1	2902	HP:0001265	Hyporeflexia
OMIM:614563	GRIN1	2902	HP:0001288	Gait disturbance
OMIM:614563	GRIN1	2902	HP:0001321	Cerebellar hypoplasia
OMIM:614563	GRIN1	2902	HP:0001252	Muscular hypotonia
OMIM:614563	GRIN1	2902	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:614563	GRIN1	2902	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	GRIN2B	2904	HP:0000252	Microcephaly
OMIM:614563	GRIN2B	2904	HP:0011220	Prominent forehead
OMIM:614563	GRIN2B	2904	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	GRIN2B	2904	HP:0002510	Spastic tetraplegia
OMIM:614563	GRIN2B	2904	HP:0007359	Focal seizures
OMIM:614563	GRIN2B	2904	HP:0001302	Pachygyria
OMIM:614563	GRIN2B	2904	HP:0200055	Small hand
OMIM:614563	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:614563	GRIN2B	2904	HP:0001250	Seizures
OMIM:614563	GRIN2B	2904	HP:0000494	Downslanted palpebral fissures
OMIM:614563	GRIN2B	2904	HP:0001357	Plagiocephaly
OMIM:614563	GRIN2B	2904	HP:0001760	Abnormality of the foot
OMIM:614563	GRIN2B	2904	HP:0001265	Hyporeflexia
OMIM:614563	GRIN2B	2904	HP:0001288	Gait disturbance
OMIM:614563	GRIN2B	2904	HP:0001321	Cerebellar hypoplasia
OMIM:614563	GRIN2B	2904	HP:0001252	Muscular hypotonia
OMIM:614563	GRIN2B	2904	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:614563	GRIN2B	2904	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	DEAF1	10522	HP:0000252	Microcephaly
OMIM:614563	DEAF1	10522	HP:0011220	Prominent forehead
OMIM:614563	DEAF1	10522	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	DEAF1	10522	HP:0002510	Spastic tetraplegia
OMIM:614563	DEAF1	10522	HP:0007359	Focal seizures
OMIM:614563	DEAF1	10522	HP:0001302	Pachygyria
OMIM:614563	DEAF1	10522	HP:0200055	Small hand
OMIM:614563	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:614563	DEAF1	10522	HP:0001250	Seizures
OMIM:614563	DEAF1	10522	HP:0000494	Downslanted palpebral fissures
OMIM:614563	DEAF1	10522	HP:0001357	Plagiocephaly
OMIM:614563	DEAF1	10522	HP:0001760	Abnormality of the foot
OMIM:614563	DEAF1	10522	HP:0001265	Hyporeflexia
OMIM:614563	DEAF1	10522	HP:0001288	Gait disturbance
OMIM:614563	DEAF1	10522	HP:0001321	Cerebellar hypoplasia
OMIM:614563	DEAF1	10522	HP:0001252	Muscular hypotonia
OMIM:614563	DEAF1	10522	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:614563	DEAF1	10522	HP:0003477	Peripheral axonal neuropathy
OMIM:614563	SYNGAP1	8831	HP:0000252	Microcephaly
OMIM:614563	SYNGAP1	8831	HP:0011220	Prominent forehead
OMIM:614563	SYNGAP1	8831	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614563	SYNGAP1	8831	HP:0002510	Spastic tetraplegia
OMIM:614563	SYNGAP1	8831	HP:0007359	Focal seizures
OMIM:614563	SYNGAP1	8831	HP:0001302	Pachygyria
OMIM:614563	SYNGAP1	8831	HP:0200055	Small hand
OMIM:614563	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:614563	SYNGAP1	8831	HP:0001250	Seizures
OMIM:614563	SYNGAP1	8831	HP:0000494	Downslanted palpebral fissures
OMIM:614563	SYNGAP1	8831	HP:0001357	Plagiocephaly
OMIM:614563	SYNGAP1	8831	HP:0001760	Abnormality of the foot
OMIM:614563	SYNGAP1	8831	HP:0001265	Hyporeflexia
OMIM:614563	SYNGAP1	8831	HP:0001288	Gait disturbance
OMIM:614563	SYNGAP1	8831	HP:0001321	Cerebellar hypoplasia
OMIM:614563	SYNGAP1	8831	HP:0001252	Muscular hypotonia
OMIM:614563	SYNGAP1	8831	HP:0002365	Hypoplasia of the brainstem
OMIM:614563	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:614563	SYNGAP1	8831	HP:0003477	Peripheral axonal neuropathy
OMIM:614465	ZNF423	23090	HP:0000090	Nephronophthisis
OMIM:614465	ZNF423	23090	HP:0000107	Renal cyst
OMIM:614465	ZNF423	23090	HP:0000657	Oculomotor apraxia
OMIM:614465	ZNF423	23090	HP:0002419	Molar tooth sign on MRI
OMIM:614465	ZNF423	23090	HP:0000556	Retinal dystrophy
OMIM:614465	ZNF423	23090	HP:0000589	Coloboma
OMIM:614465	ZNF423	23090	HP:0002084	Encephalocele
OMIM:614465	ZNF423	23090	HP:0010442	Polydactyly
OMIM:614465	ZNF423	23090	HP:0001305	Dandy-Walker malformation
OMIM:614465	ZNF423	23090	HP:0000007	Autosomal recessive inheritance
OMIM:614465	TMEM138	51524	HP:0000090	Nephronophthisis
OMIM:614465	TMEM138	51524	HP:0000107	Renal cyst
OMIM:614465	TMEM138	51524	HP:0000657	Oculomotor apraxia
OMIM:614465	TMEM138	51524	HP:0002419	Molar tooth sign on MRI
OMIM:614465	TMEM138	51524	HP:0000556	Retinal dystrophy
OMIM:614465	TMEM138	51524	HP:0000589	Coloboma
OMIM:614465	TMEM138	51524	HP:0002084	Encephalocele
OMIM:614465	TMEM138	51524	HP:0010442	Polydactyly
OMIM:614465	TMEM138	51524	HP:0001305	Dandy-Walker malformation
OMIM:614465	TMEM138	51524	HP:0000007	Autosomal recessive inheritance
OMIM:614465	TMEM237	65062	HP:0000090	Nephronophthisis
OMIM:614465	TMEM237	65062	HP:0000107	Renal cyst
OMIM:614465	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:614465	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:614465	TMEM237	65062	HP:0000556	Retinal dystrophy
OMIM:614465	TMEM237	65062	HP:0000589	Coloboma
OMIM:614465	TMEM237	65062	HP:0002084	Encephalocele
OMIM:614465	TMEM237	65062	HP:0010442	Polydactyly
OMIM:614465	TMEM237	65062	HP:0001305	Dandy-Walker malformation
OMIM:614465	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:614465	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:614465	CEP290	80184	HP:0000107	Renal cyst
OMIM:614465	CEP290	80184	HP:0000657	Oculomotor apraxia
OMIM:614465	CEP290	80184	HP:0002419	Molar tooth sign on MRI
OMIM:614465	CEP290	80184	HP:0000556	Retinal dystrophy
OMIM:614465	CEP290	80184	HP:0000589	Coloboma
OMIM:614465	CEP290	80184	HP:0002084	Encephalocele
OMIM:614465	CEP290	80184	HP:0010442	Polydactyly
OMIM:614465	CEP290	80184	HP:0001305	Dandy-Walker malformation
OMIM:614465	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:614465	CC2D2A	57545	HP:0000090	Nephronophthisis
OMIM:614465	CC2D2A	57545	HP:0000107	Renal cyst
OMIM:614465	CC2D2A	57545	HP:0000657	Oculomotor apraxia
OMIM:614465	CC2D2A	57545	HP:0002419	Molar tooth sign on MRI
OMIM:614465	CC2D2A	57545	HP:0000556	Retinal dystrophy
OMIM:614465	CC2D2A	57545	HP:0000589	Coloboma
OMIM:614465	CC2D2A	57545	HP:0002084	Encephalocele
OMIM:614465	CC2D2A	57545	HP:0010442	Polydactyly
OMIM:614465	CC2D2A	57545	HP:0001305	Dandy-Walker malformation
OMIM:614465	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:614465	TMEM216	51259	HP:0000090	Nephronophthisis
OMIM:614465	TMEM216	51259	HP:0000107	Renal cyst
OMIM:614465	TMEM216	51259	HP:0000657	Oculomotor apraxia
OMIM:614465	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
OMIM:614465	TMEM216	51259	HP:0000556	Retinal dystrophy
OMIM:614465	TMEM216	51259	HP:0000589	Coloboma
OMIM:614465	TMEM216	51259	HP:0002084	Encephalocele
OMIM:614465	TMEM216	51259	HP:0010442	Polydactyly
OMIM:614465	TMEM216	51259	HP:0001305	Dandy-Walker malformation
OMIM:614465	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:614465	TMEM231	79583	HP:0000090	Nephronophthisis
OMIM:614465	TMEM231	79583	HP:0000107	Renal cyst
OMIM:614465	TMEM231	79583	HP:0000657	Oculomotor apraxia
OMIM:614465	TMEM231	79583	HP:0002419	Molar tooth sign on MRI
OMIM:614465	TMEM231	79583	HP:0000556	Retinal dystrophy
OMIM:614465	TMEM231	79583	HP:0000589	Coloboma
OMIM:614465	TMEM231	79583	HP:0002084	Encephalocele
OMIM:614465	TMEM231	79583	HP:0010442	Polydactyly
OMIM:614465	TMEM231	79583	HP:0001305	Dandy-Walker malformation
OMIM:614465	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:612937	DPM3	54344	HP:0003805	Rimmed vacuoles
OMIM:612937	DPM3	54344	HP:0002910	Elevated hepatic transaminases
OMIM:612937	DPM3	54344	HP:0001644	Dilated cardiomyopathy
OMIM:612937	DPM3	54344	HP:0002515	Waddling gait
OMIM:612937	DPM3	54344	HP:0000007	Autosomal recessive inheritance
OMIM:612937	DPM3	54344	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612937	DPM3	54344	HP:0001324	Muscle weakness
OMIM:117800	ABCC11	85320	HP:0000006	Autosomal dominant inheritance
OMIM:117800	ABCC11	85320	HP:0000598	Abnormality of the ear
OMIM:117800	ABCC11	85320	HP:0003002	Breast carcinoma
OMIM:122000	COL8A2	1296	HP:0000006	Autosomal dominant inheritance
OMIM:122000	COL8A2	1296	HP:0000501	Glaucoma
OMIM:122000	COL8A2	1296	HP:0000687	Widely spaced teeth
OMIM:122000	COL8A2	1296	HP:0000491	Keratitis
OMIM:122000	COL8A2	1296	HP:0001131	Corneal dystrophy
OMIM:122000	COL8A2	1296	HP:0001513	Obesity
OMIM:122000	ZEB1	6935	HP:0000006	Autosomal dominant inheritance
OMIM:122000	ZEB1	6935	HP:0000501	Glaucoma
OMIM:122000	ZEB1	6935	HP:0000687	Widely spaced teeth
OMIM:122000	ZEB1	6935	HP:0000491	Keratitis
OMIM:122000	ZEB1	6935	HP:0001131	Corneal dystrophy
OMIM:122000	ZEB1	6935	HP:0001513	Obesity
OMIM:122000	VSX1	30813	HP:0000006	Autosomal dominant inheritance
OMIM:122000	VSX1	30813	HP:0000501	Glaucoma
OMIM:122000	VSX1	30813	HP:0000687	Widely spaced teeth
OMIM:122000	VSX1	30813	HP:0000491	Keratitis
OMIM:122000	VSX1	30813	HP:0001131	Corneal dystrophy
OMIM:122000	VSX1	30813	HP:0001513	Obesity
OMIM:610042	NRXN1	9378	HP:0001249	Intellectual disability
OMIM:610042	NRXN1	9378	HP:0000752	Hyperactivity
OMIM:610042	NRXN1	9378	HP:0001315	Reduced tendon reflexes
OMIM:610042	NRXN1	9378	HP:0002539	Cortical dysplasia
OMIM:610042	NRXN1	9378	HP:0002194	Delayed gross motor development
OMIM:610042	NRXN1	9378	HP:0001250	Seizures
OMIM:610042	CNTNAP2	26047	HP:0001249	Intellectual disability
OMIM:610042	CNTNAP2	26047	HP:0000752	Hyperactivity
OMIM:610042	CNTNAP2	26047	HP:0001315	Reduced tendon reflexes
OMIM:610042	CNTNAP2	26047	HP:0002539	Cortical dysplasia
OMIM:610042	CNTNAP2	26047	HP:0002194	Delayed gross motor development
OMIM:610042	CNTNAP2	26047	HP:0001250	Seizures
OMIM:227500	F7	2155	HP:0003828	Variable expressivity
OMIM:227500	F7	2155	HP:0000421	Epistaxis
OMIM:227500	F7	2155	HP:0002170	Intracranial hemorrhage
OMIM:227500	F7	2155	HP:0000007	Autosomal recessive inheritance
OMIM:115150	BRAF	673	HP:0000639	Nystagmus
OMIM:115150	BRAF	673	HP:0002020	Gastroesophageal reflux
OMIM:115150	BRAF	673	HP:0000347	Micrognathia
OMIM:115150	BRAF	673	HP:0000176	Submucous cleft hard palate
OMIM:115150	BRAF	673	HP:0009908	Anterior creases of earlobe
OMIM:115150	BRAF	673	HP:0004322	Short stature
OMIM:115150	BRAF	673	HP:0009891	Underdeveloped supraorbital ridges
OMIM:115150	BRAF	673	HP:0000767	Pectus excavatum
OMIM:115150	BRAF	673	HP:0002013	Vomiting
OMIM:115150	BRAF	673	HP:0002019	Constipation
OMIM:115150	BRAF	673	HP:0008872	Feeding difficulties in infancy
OMIM:115150	BRAF	673	HP:0000268	Dolichocephaly
OMIM:115150	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
OMIM:115150	BRAF	673	HP:0000962	Hyperkeratosis
OMIM:115150	BRAF	673	HP:0008070	Sparse hair
OMIM:115150	BRAF	673	HP:0001047	Atopic dermatitis
OMIM:115150	BRAF	673	HP:0000689	Dental malocclusion
OMIM:115150	BRAF	673	HP:0001561	Polyhydramnios
OMIM:115150	BRAF	673	HP:0008064	Ichthyosis
OMIM:115150	BRAF	673	HP:0004209	Clinodactyly of the 5th finger
OMIM:115150	BRAF	673	HP:0000358	Posteriorly rotated ears
OMIM:115150	BRAF	673	HP:0000238	Hydrocephalus
OMIM:115150	BRAF	673	HP:0001508	Failure to thrive
OMIM:115150	BRAF	673	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:115150	BRAF	673	HP:0002120	Cerebral cortical atrophy
OMIM:115150	BRAF	673	HP:0002212	Curly hair
OMIM:115150	BRAF	673	HP:0003577	Congenital onset
OMIM:115150	BRAF	673	HP:0001631	Atria septal defect
OMIM:115150	BRAF	673	HP:0011220	Prominent forehead
OMIM:115150	BRAF	673	HP:0000414	Bulbous nose
OMIM:115150	BRAF	673	HP:0001622	Premature birth
OMIM:115150	BRAF	673	HP:0002750	Delayed skeletal maturation
OMIM:115150	BRAF	673	HP:0000486	Strabismus
OMIM:115150	BRAF	673	HP:0000286	Epicanthus
OMIM:115150	BRAF	673	HP:0000369	Low-set ears
OMIM:115150	BRAF	673	HP:0000520	Proptosis
OMIM:115150	BRAF	673	HP:0000508	Ptosis
OMIM:115150	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:115150	BRAF	673	HP:0000494	Downslanted palpebral fissures
OMIM:115150	BRAF	673	HP:0000768	Pectus carinatum
OMIM:115150	BRAF	673	HP:0001249	Intellectual disability
OMIM:115150	BRAF	673	HP:0001276	Hypertonia
OMIM:115150	BRAF	673	HP:0000341	Narrow forehead
OMIM:115150	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:115150	BRAF	673	HP:0000280	Coarse facial features
OMIM:115150	BRAF	673	HP:0003196	Short nose
OMIM:115150	BRAF	673	HP:0001252	Muscular hypotonia
OMIM:115150	BRAF	673	HP:0000218	High palate
OMIM:115150	BRAF	673	HP:0001250	Seizures
OMIM:115150	BRAF	673	HP:0000529	Progressive visual loss
OMIM:115150	BRAF	673	HP:0000545	Myopia
OMIM:115150	BRAF	673	HP:0003477	Peripheral axonal neuropathy
OMIM:115150	BRAF	673	HP:0000657	Oculomotor apraxia
OMIM:115150	BRAF	673	HP:0001744	Splenomegaly
OMIM:115150	BRAF	673	HP:0000365	Hearing impairment
OMIM:115150	BRAF	673	HP:0000194	Open mouth
OMIM:115150	BRAF	673	HP:0000316	Hypertelorism
OMIM:115150	BRAF	673	HP:0000938	Osteopenia
OMIM:115150	BRAF	673	HP:0002217	Slow-growing hair
OMIM:115150	BRAF	673	HP:0000463	Anteverted nares
OMIM:115150	BRAF	673	HP:0005280	Depressed nasal bridge
OMIM:115150	BRAF	673	HP:0000126	Hydronephrosis
OMIM:115150	BRAF	673	HP:0004482	Relative macrocephaly
OMIM:115150	MAP2K1	5604	HP:0000639	Nystagmus
OMIM:115150	MAP2K1	5604	HP:0002020	Gastroesophageal reflux
OMIM:115150	MAP2K1	5604	HP:0000347	Micrognathia
OMIM:115150	MAP2K1	5604	HP:0000176	Submucous cleft hard palate
OMIM:115150	MAP2K1	5604	HP:0009908	Anterior creases of earlobe
OMIM:115150	MAP2K1	5604	HP:0004322	Short stature
OMIM:115150	MAP2K1	5604	HP:0009891	Underdeveloped supraorbital ridges
OMIM:115150	MAP2K1	5604	HP:0000767	Pectus excavatum
OMIM:115150	MAP2K1	5604	HP:0002013	Vomiting
OMIM:115150	MAP2K1	5604	HP:0002019	Constipation
OMIM:115150	MAP2K1	5604	HP:0008872	Feeding difficulties in infancy
OMIM:115150	MAP2K1	5604	HP:0000268	Dolichocephaly
OMIM:115150	MAP2K1	5604	HP:0001639	Hypertrophic cardiomyopathy
OMIM:115150	MAP2K1	5604	HP:0000962	Hyperkeratosis
OMIM:115150	MAP2K1	5604	HP:0008070	Sparse hair
OMIM:115150	MAP2K1	5604	HP:0001047	Atopic dermatitis
OMIM:115150	MAP2K1	5604	HP:0000689	Dental malocclusion
OMIM:115150	MAP2K1	5604	HP:0001561	Polyhydramnios
OMIM:115150	MAP2K1	5604	HP:0008064	Ichthyosis
OMIM:115150	MAP2K1	5604	HP:0004209	Clinodactyly of the 5th finger
OMIM:115150	MAP2K1	5604	HP:0000358	Posteriorly rotated ears
OMIM:115150	MAP2K1	5604	HP:0000238	Hydrocephalus
OMIM:115150	MAP2K1	5604	HP:0001508	Failure to thrive
OMIM:115150	MAP2K1	5604	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:115150	MAP2K1	5604	HP:0002120	Cerebral cortical atrophy
OMIM:115150	MAP2K1	5604	HP:0002212	Curly hair
OMIM:115150	MAP2K1	5604	HP:0003577	Congenital onset
OMIM:115150	MAP2K1	5604	HP:0001631	Atria septal defect
OMIM:115150	MAP2K1	5604	HP:0011220	Prominent forehead
OMIM:115150	MAP2K1	5604	HP:0000414	Bulbous nose
OMIM:115150	MAP2K1	5604	HP:0001622	Premature birth
OMIM:115150	MAP2K1	5604	HP:0002750	Delayed skeletal maturation
OMIM:115150	MAP2K1	5604	HP:0000486	Strabismus
OMIM:115150	MAP2K1	5604	HP:0000286	Epicanthus
OMIM:115150	MAP2K1	5604	HP:0000369	Low-set ears
OMIM:115150	MAP2K1	5604	HP:0000520	Proptosis
OMIM:115150	MAP2K1	5604	HP:0000508	Ptosis
OMIM:115150	MAP2K1	5604	HP:0000006	Autosomal dominant inheritance
OMIM:115150	MAP2K1	5604	HP:0000494	Downslanted palpebral fissures
OMIM:115150	MAP2K1	5604	HP:0000768	Pectus carinatum
OMIM:115150	MAP2K1	5604	HP:0001249	Intellectual disability
OMIM:115150	MAP2K1	5604	HP:0001276	Hypertonia
OMIM:115150	MAP2K1	5604	HP:0000341	Narrow forehead
OMIM:115150	MAP2K1	5604	HP:0001642	Pulmonic stenosis
OMIM:115150	MAP2K1	5604	HP:0000280	Coarse facial features
OMIM:115150	MAP2K1	5604	HP:0003196	Short nose
OMIM:115150	MAP2K1	5604	HP:0001252	Muscular hypotonia
OMIM:115150	MAP2K1	5604	HP:0000218	High palate
OMIM:115150	MAP2K1	5604	HP:0001250	Seizures
OMIM:115150	MAP2K1	5604	HP:0000529	Progressive visual loss
OMIM:115150	MAP2K1	5604	HP:0000545	Myopia
OMIM:115150	MAP2K1	5604	HP:0003477	Peripheral axonal neuropathy
OMIM:115150	MAP2K1	5604	HP:0000657	Oculomotor apraxia
OMIM:115150	MAP2K1	5604	HP:0001744	Splenomegaly
OMIM:115150	MAP2K1	5604	HP:0000365	Hearing impairment
OMIM:115150	MAP2K1	5604	HP:0000194	Open mouth
OMIM:115150	MAP2K1	5604	HP:0000316	Hypertelorism
OMIM:115150	MAP2K1	5604	HP:0000938	Osteopenia
OMIM:115150	MAP2K1	5604	HP:0002217	Slow-growing hair
OMIM:115150	MAP2K1	5604	HP:0000463	Anteverted nares
OMIM:115150	MAP2K1	5604	HP:0005280	Depressed nasal bridge
OMIM:115150	MAP2K1	5604	HP:0000126	Hydronephrosis
OMIM:115150	MAP2K1	5604	HP:0004482	Relative macrocephaly
OMIM:115150	KRAS	3845	HP:0000639	Nystagmus
OMIM:115150	KRAS	3845	HP:0002020	Gastroesophageal reflux
OMIM:115150	KRAS	3845	HP:0000347	Micrognathia
OMIM:115150	KRAS	3845	HP:0000176	Submucous cleft hard palate
OMIM:115150	KRAS	3845	HP:0009908	Anterior creases of earlobe
OMIM:115150	KRAS	3845	HP:0004322	Short stature
OMIM:115150	KRAS	3845	HP:0009891	Underdeveloped supraorbital ridges
OMIM:115150	KRAS	3845	HP:0000767	Pectus excavatum
OMIM:115150	KRAS	3845	HP:0002013	Vomiting
OMIM:115150	KRAS	3845	HP:0002019	Constipation
OMIM:115150	KRAS	3845	HP:0008872	Feeding difficulties in infancy
OMIM:115150	KRAS	3845	HP:0000268	Dolichocephaly
OMIM:115150	KRAS	3845	HP:0001639	Hypertrophic cardiomyopathy
OMIM:115150	KRAS	3845	HP:0000962	Hyperkeratosis
OMIM:115150	KRAS	3845	HP:0008070	Sparse hair
OMIM:115150	KRAS	3845	HP:0001047	Atopic dermatitis
OMIM:115150	KRAS	3845	HP:0000689	Dental malocclusion
OMIM:115150	KRAS	3845	HP:0001561	Polyhydramnios
OMIM:115150	KRAS	3845	HP:0008064	Ichthyosis
OMIM:115150	KRAS	3845	HP:0004209	Clinodactyly of the 5th finger
OMIM:115150	KRAS	3845	HP:0000358	Posteriorly rotated ears
OMIM:115150	KRAS	3845	HP:0000238	Hydrocephalus
OMIM:115150	KRAS	3845	HP:0001508	Failure to thrive
OMIM:115150	KRAS	3845	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:115150	KRAS	3845	HP:0002120	Cerebral cortical atrophy
OMIM:115150	KRAS	3845	HP:0002212	Curly hair
OMIM:115150	KRAS	3845	HP:0003577	Congenital onset
OMIM:115150	KRAS	3845	HP:0001631	Atria septal defect
OMIM:115150	KRAS	3845	HP:0011220	Prominent forehead
OMIM:115150	KRAS	3845	HP:0000414	Bulbous nose
OMIM:115150	KRAS	3845	HP:0001622	Premature birth
OMIM:115150	KRAS	3845	HP:0002750	Delayed skeletal maturation
OMIM:115150	KRAS	3845	HP:0000486	Strabismus
OMIM:115150	KRAS	3845	HP:0000286	Epicanthus
OMIM:115150	KRAS	3845	HP:0000369	Low-set ears
OMIM:115150	KRAS	3845	HP:0000520	Proptosis
OMIM:115150	KRAS	3845	HP:0000508	Ptosis
OMIM:115150	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:115150	KRAS	3845	HP:0000494	Downslanted palpebral fissures
OMIM:115150	KRAS	3845	HP:0000768	Pectus carinatum
OMIM:115150	KRAS	3845	HP:0001249	Intellectual disability
OMIM:115150	KRAS	3845	HP:0001276	Hypertonia
OMIM:115150	KRAS	3845	HP:0000341	Narrow forehead
OMIM:115150	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:115150	KRAS	3845	HP:0000280	Coarse facial features
OMIM:115150	KRAS	3845	HP:0003196	Short nose
OMIM:115150	KRAS	3845	HP:0001252	Muscular hypotonia
OMIM:115150	KRAS	3845	HP:0000218	High palate
OMIM:115150	KRAS	3845	HP:0001250	Seizures
OMIM:115150	KRAS	3845	HP:0000529	Progressive visual loss
OMIM:115150	KRAS	3845	HP:0000545	Myopia
OMIM:115150	KRAS	3845	HP:0003477	Peripheral axonal neuropathy
OMIM:115150	KRAS	3845	HP:0000657	Oculomotor apraxia
OMIM:115150	KRAS	3845	HP:0001744	Splenomegaly
OMIM:115150	KRAS	3845	HP:0000365	Hearing impairment
OMIM:115150	KRAS	3845	HP:0000194	Open mouth
OMIM:115150	KRAS	3845	HP:0000316	Hypertelorism
OMIM:115150	KRAS	3845	HP:0000938	Osteopenia
OMIM:115150	KRAS	3845	HP:0002217	Slow-growing hair
OMIM:115150	KRAS	3845	HP:0000463	Anteverted nares
OMIM:115150	KRAS	3845	HP:0005280	Depressed nasal bridge
OMIM:115150	KRAS	3845	HP:0000126	Hydronephrosis
OMIM:115150	KRAS	3845	HP:0004482	Relative macrocephaly
OMIM:115150	MAP2K2	5605	HP:0000639	Nystagmus
OMIM:115150	MAP2K2	5605	HP:0002020	Gastroesophageal reflux
OMIM:115150	MAP2K2	5605	HP:0000347	Micrognathia
OMIM:115150	MAP2K2	5605	HP:0000176	Submucous cleft hard palate
OMIM:115150	MAP2K2	5605	HP:0009908	Anterior creases of earlobe
OMIM:115150	MAP2K2	5605	HP:0004322	Short stature
OMIM:115150	MAP2K2	5605	HP:0009891	Underdeveloped supraorbital ridges
OMIM:115150	MAP2K2	5605	HP:0000767	Pectus excavatum
OMIM:115150	MAP2K2	5605	HP:0002013	Vomiting
OMIM:115150	MAP2K2	5605	HP:0002019	Constipation
OMIM:115150	MAP2K2	5605	HP:0008872	Feeding difficulties in infancy
OMIM:115150	MAP2K2	5605	HP:0000268	Dolichocephaly
OMIM:115150	MAP2K2	5605	HP:0001639	Hypertrophic cardiomyopathy
OMIM:115150	MAP2K2	5605	HP:0000962	Hyperkeratosis
OMIM:115150	MAP2K2	5605	HP:0008070	Sparse hair
OMIM:115150	MAP2K2	5605	HP:0001047	Atopic dermatitis
OMIM:115150	MAP2K2	5605	HP:0000689	Dental malocclusion
OMIM:115150	MAP2K2	5605	HP:0001561	Polyhydramnios
OMIM:115150	MAP2K2	5605	HP:0008064	Ichthyosis
OMIM:115150	MAP2K2	5605	HP:0004209	Clinodactyly of the 5th finger
OMIM:115150	MAP2K2	5605	HP:0000358	Posteriorly rotated ears
OMIM:115150	MAP2K2	5605	HP:0000238	Hydrocephalus
OMIM:115150	MAP2K2	5605	HP:0001508	Failure to thrive
OMIM:115150	MAP2K2	5605	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:115150	MAP2K2	5605	HP:0002120	Cerebral cortical atrophy
OMIM:115150	MAP2K2	5605	HP:0002212	Curly hair
OMIM:115150	MAP2K2	5605	HP:0003577	Congenital onset
OMIM:115150	MAP2K2	5605	HP:0001631	Atria septal defect
OMIM:115150	MAP2K2	5605	HP:0011220	Prominent forehead
OMIM:115150	MAP2K2	5605	HP:0000414	Bulbous nose
OMIM:115150	MAP2K2	5605	HP:0001622	Premature birth
OMIM:115150	MAP2K2	5605	HP:0002750	Delayed skeletal maturation
OMIM:115150	MAP2K2	5605	HP:0000486	Strabismus
OMIM:115150	MAP2K2	5605	HP:0000286	Epicanthus
OMIM:115150	MAP2K2	5605	HP:0000369	Low-set ears
OMIM:115150	MAP2K2	5605	HP:0000520	Proptosis
OMIM:115150	MAP2K2	5605	HP:0000508	Ptosis
OMIM:115150	MAP2K2	5605	HP:0000006	Autosomal dominant inheritance
OMIM:115150	MAP2K2	5605	HP:0000494	Downslanted palpebral fissures
OMIM:115150	MAP2K2	5605	HP:0000768	Pectus carinatum
OMIM:115150	MAP2K2	5605	HP:0001249	Intellectual disability
OMIM:115150	MAP2K2	5605	HP:0001276	Hypertonia
OMIM:115150	MAP2K2	5605	HP:0000341	Narrow forehead
OMIM:115150	MAP2K2	5605	HP:0001642	Pulmonic stenosis
OMIM:115150	MAP2K2	5605	HP:0000280	Coarse facial features
OMIM:115150	MAP2K2	5605	HP:0003196	Short nose
OMIM:115150	MAP2K2	5605	HP:0001252	Muscular hypotonia
OMIM:115150	MAP2K2	5605	HP:0000218	High palate
OMIM:115150	MAP2K2	5605	HP:0001250	Seizures
OMIM:115150	MAP2K2	5605	HP:0000529	Progressive visual loss
OMIM:115150	MAP2K2	5605	HP:0000545	Myopia
OMIM:115150	MAP2K2	5605	HP:0003477	Peripheral axonal neuropathy
OMIM:115150	MAP2K2	5605	HP:0000657	Oculomotor apraxia
OMIM:115150	MAP2K2	5605	HP:0001744	Splenomegaly
OMIM:115150	MAP2K2	5605	HP:0000365	Hearing impairment
OMIM:115150	MAP2K2	5605	HP:0000194	Open mouth
OMIM:115150	MAP2K2	5605	HP:0000316	Hypertelorism
OMIM:115150	MAP2K2	5605	HP:0000938	Osteopenia
OMIM:115150	MAP2K2	5605	HP:0002217	Slow-growing hair
OMIM:115150	MAP2K2	5605	HP:0000463	Anteverted nares
OMIM:115150	MAP2K2	5605	HP:0005280	Depressed nasal bridge
OMIM:115150	MAP2K2	5605	HP:0000126	Hydronephrosis
OMIM:115150	MAP2K2	5605	HP:0004482	Relative macrocephaly
OMIM:609265	CHEK2	11200	HP:0009733	Glioma
OMIM:609265	CHEK2	11200	HP:0000006	Autosomal dominant inheritance
OMIM:609265	CHEK2	11200	HP:0003002	Breast carcinoma
OMIM:609265	CHEK2	11200	HP:0100242	Sarcoma
OMIM:609265	CHEK2	11200	HP:0002858	Meningioma
OMIM:609265	MDM2	4193	HP:0009733	Glioma
OMIM:609265	MDM2	4193	HP:0000006	Autosomal dominant inheritance
OMIM:609265	MDM2	4193	HP:0003002	Breast carcinoma
OMIM:609265	MDM2	4193	HP:0100242	Sarcoma
OMIM:609265	MDM2	4193	HP:0002858	Meningioma
OMIM:609265	TP53	7157	HP:0009733	Glioma
OMIM:609265	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:609265	TP53	7157	HP:0003002	Breast carcinoma
OMIM:609265	TP53	7157	HP:0100242	Sarcoma
OMIM:609265	TP53	7157	HP:0002858	Meningioma
OMIM:602440	C5ORF42	65250	HP:0003457	EMG abnormality
OMIM:602440	C5ORF42	65250	HP:0002817	Abnormality of the upper limb
OMIM:602440	C5ORF42	65250	HP:0004305	Involuntary movements
OMIM:602440	C5ORF42	65250	HP:0003445	EMG: neuropathic changes
OMIM:602440	C5ORF42	65250	HP:0000762	Decreased nerve conduction velocity
OMIM:602440	C5ORF42	65250	HP:0100555	Asymmetric growth
OMIM:602440	C5ORF42	65250	HP:0001337	Tremor
OMIM:602440	C5ORF42	65250	HP:0003745	Sporadic
OMIM:602440	C5ORF42	65250	HP:0002715	Abnormality of the immune system
OMIM:602440	C5ORF42	65250	HP:0002380	Fasciculations
OMIM:602440	C5ORF42	65250	HP:0001063	Acrocyanosis
OMIM:602440	CEP126	57562	HP:0003457	EMG abnormality
OMIM:602440	CEP126	57562	HP:0002817	Abnormality of the upper limb
OMIM:602440	CEP126	57562	HP:0004305	Involuntary movements
OMIM:602440	CEP126	57562	HP:0003445	EMG: neuropathic changes
OMIM:602440	CEP126	57562	HP:0000762	Decreased nerve conduction velocity
OMIM:602440	CEP126	57562	HP:0100555	Asymmetric growth
OMIM:602440	CEP126	57562	HP:0001337	Tremor
OMIM:602440	CEP126	57562	HP:0003745	Sporadic
OMIM:602440	CEP126	57562	HP:0002715	Abnormality of the immune system
OMIM:602440	CEP126	57562	HP:0002380	Fasciculations
OMIM:602440	CEP126	57562	HP:0001063	Acrocyanosis
OMIM:259700	CLCN7	1186	HP:0001250	Seizures
OMIM:259700	CLCN7	1186	HP:0001876	Pancytopenia
OMIM:259700	CLCN7	1186	HP:0001744	Splenomegaly
OMIM:259700	CLCN7	1186	HP:0003015	Flared metaphysis
OMIM:259700	CLCN7	1186	HP:0000618	Blindness
OMIM:259700	CLCN7	1186	HP:0000648	Optic atrophy
OMIM:259700	CLCN7	1186	HP:0002754	Osteomyelitis
OMIM:259700	CLCN7	1186	HP:0000365	Hearing impairment
OMIM:259700	CLCN7	1186	HP:0002812	Coxa vara
OMIM:259700	CLCN7	1186	HP:0000238	Hydrocephalus
OMIM:259700	CLCN7	1186	HP:0001281	Tetany
OMIM:259700	CLCN7	1186	HP:0002007	Frontal bossing
OMIM:259700	CLCN7	1186	HP:0002756	Pathologic fracture
OMIM:259700	CLCN7	1186	HP:0000256	Macrocephaly
OMIM:259700	CLCN7	1186	HP:0010628	Facial palsy
OMIM:259700	CLCN7	1186	HP:0002240	Hepatomegaly
OMIM:259700	CLCN7	1186	HP:0000670	Carious teeth
OMIM:259700	CLCN7	1186	HP:0000007	Autosomal recessive inheritance
OMIM:259700	CLCN7	1186	HP:0000597	Ophthalmoparesis
OMIM:259700	CLCN7	1186	HP:0001508	Failure to thrive
OMIM:259700	CLCN7	1186	HP:0001903	Anemia
OMIM:259700	CLCN7	1186	HP:0000639	Nystagmus
OMIM:259700	TCIRG1	10312	HP:0001250	Seizures
OMIM:259700	TCIRG1	10312	HP:0001876	Pancytopenia
OMIM:259700	TCIRG1	10312	HP:0001744	Splenomegaly
OMIM:259700	TCIRG1	10312	HP:0003015	Flared metaphysis
OMIM:259700	TCIRG1	10312	HP:0000618	Blindness
OMIM:259700	TCIRG1	10312	HP:0000648	Optic atrophy
OMIM:259700	TCIRG1	10312	HP:0002754	Osteomyelitis
OMIM:259700	TCIRG1	10312	HP:0000365	Hearing impairment
OMIM:259700	TCIRG1	10312	HP:0002812	Coxa vara
OMIM:259700	TCIRG1	10312	HP:0000238	Hydrocephalus
OMIM:259700	TCIRG1	10312	HP:0001281	Tetany
OMIM:259700	TCIRG1	10312	HP:0002007	Frontal bossing
OMIM:259700	TCIRG1	10312	HP:0002756	Pathologic fracture
OMIM:259700	TCIRG1	10312	HP:0000256	Macrocephaly
OMIM:259700	TCIRG1	10312	HP:0010628	Facial palsy
OMIM:259700	TCIRG1	10312	HP:0002240	Hepatomegaly
OMIM:259700	TCIRG1	10312	HP:0000670	Carious teeth
OMIM:259700	TCIRG1	10312	HP:0000007	Autosomal recessive inheritance
OMIM:259700	TCIRG1	10312	HP:0000597	Ophthalmoparesis
OMIM:259700	TCIRG1	10312	HP:0001508	Failure to thrive
OMIM:259700	TCIRG1	10312	HP:0001903	Anemia
OMIM:259700	TCIRG1	10312	HP:0000639	Nystagmus
OMIM:259700	TNFSF11	8600	HP:0001250	Seizures
OMIM:259700	TNFSF11	8600	HP:0001876	Pancytopenia
OMIM:259700	TNFSF11	8600	HP:0001744	Splenomegaly
OMIM:259700	TNFSF11	8600	HP:0003015	Flared metaphysis
OMIM:259700	TNFSF11	8600	HP:0000618	Blindness
OMIM:259700	TNFSF11	8600	HP:0000648	Optic atrophy
OMIM:259700	TNFSF11	8600	HP:0002754	Osteomyelitis
OMIM:259700	TNFSF11	8600	HP:0000365	Hearing impairment
OMIM:259700	TNFSF11	8600	HP:0002812	Coxa vara
OMIM:259700	TNFSF11	8600	HP:0000238	Hydrocephalus
OMIM:259700	TNFSF11	8600	HP:0001281	Tetany
OMIM:259700	TNFSF11	8600	HP:0002007	Frontal bossing
OMIM:259700	TNFSF11	8600	HP:0002756	Pathologic fracture
OMIM:259700	TNFSF11	8600	HP:0000256	Macrocephaly
OMIM:259700	TNFSF11	8600	HP:0010628	Facial palsy
OMIM:259700	TNFSF11	8600	HP:0002240	Hepatomegaly
OMIM:259700	TNFSF11	8600	HP:0000670	Carious teeth
OMIM:259700	TNFSF11	8600	HP:0000007	Autosomal recessive inheritance
OMIM:259700	TNFSF11	8600	HP:0000597	Ophthalmoparesis
OMIM:259700	TNFSF11	8600	HP:0001508	Failure to thrive
OMIM:259700	TNFSF11	8600	HP:0001903	Anemia
OMIM:259700	TNFSF11	8600	HP:0000639	Nystagmus
OMIM:259700	SNX10	29887	HP:0001250	Seizures
OMIM:259700	SNX10	29887	HP:0001876	Pancytopenia
OMIM:259700	SNX10	29887	HP:0001744	Splenomegaly
OMIM:259700	SNX10	29887	HP:0003015	Flared metaphysis
OMIM:259700	SNX10	29887	HP:0000618	Blindness
OMIM:259700	SNX10	29887	HP:0000648	Optic atrophy
OMIM:259700	SNX10	29887	HP:0002754	Osteomyelitis
OMIM:259700	SNX10	29887	HP:0000365	Hearing impairment
OMIM:259700	SNX10	29887	HP:0002812	Coxa vara
OMIM:259700	SNX10	29887	HP:0000238	Hydrocephalus
OMIM:259700	SNX10	29887	HP:0001281	Tetany
OMIM:259700	SNX10	29887	HP:0002007	Frontal bossing
OMIM:259700	SNX10	29887	HP:0002756	Pathologic fracture
OMIM:259700	SNX10	29887	HP:0000256	Macrocephaly
OMIM:259700	SNX10	29887	HP:0010628	Facial palsy
OMIM:259700	SNX10	29887	HP:0002240	Hepatomegaly
OMIM:259700	SNX10	29887	HP:0000670	Carious teeth
OMIM:259700	SNX10	29887	HP:0000007	Autosomal recessive inheritance
OMIM:259700	SNX10	29887	HP:0000597	Ophthalmoparesis
OMIM:259700	SNX10	29887	HP:0001508	Failure to thrive
OMIM:259700	SNX10	29887	HP:0001903	Anemia
OMIM:259700	SNX10	29887	HP:0000639	Nystagmus
OMIM:300869	FMR1	2332	HP:0200055	Small hand
OMIM:300869	FMR1	2332	HP:0001773	Short foot
OMIM:300869	FMR1	2332	HP:0001608	Abnormality of the voice
OMIM:300869	FMR1	2332	HP:0004322	Short stature
OMIM:300869	FMR1	2332	HP:0000028	Cryptorchidism
OMIM:300869	FMR1	2332	HP:0001252	Muscular hypotonia
OMIM:300869	FMR1	2332	HP:0000490	Deeply set eye
OMIM:300869	FMR1	2332	HP:0011362	Abnormal hair quantity
OMIM:300869	FMR1	2332	HP:0004279	Short palm
OMIM:300869	FMR1	2332	HP:0005105	Abnormal nasal morphology
OMIM:300869	FMR1	2332	HP:0001956	Truncal obesity
OMIM:300869	FMR1	2332	HP:0002750	Delayed skeletal maturation
OMIM:300869	FMR1	2332	HP:0005922	Abnormal hand morphology
OMIM:300869	FMR1	2332	HP:0100543	Cognitive impairment
OMIM:300869	FMR1	2332	HP:0000233	Thin vermilion border
OMIM:300869	FMR1	2332	HP:0000414	Bulbous nose
OMIM:300869	FMR1	2332	HP:0001256	Intellectual disability, mild
OMIM:300869	FMR1	2332	HP:0001511	Intrauterine growth retardation
OMIM:300869	FMR1	2332	HP:0000135	Hypogonadism
OMIM:300869	FMR1	2332	HP:0000869	Secondary amenorrhea
OMIM:300869	FMR1	2332	HP:0001438	Abnormality of the abdomen
OMIM:300869	FMR1	2332	HP:0001620	High pitched voice
OMIM:300869	FMR1	2332	HP:0001518	Small for gestational age
OMIM:300869	FMR1	2332	HP:0001263	Global developmental delay
OMIM:300869	FMR1	2332	HP:0008734	Decreased testicular size
OMIM:300869	FMR1	2332	HP:0001419	X-linked recessive inheritance
OMIM:300869	FMR1	2332	HP:0002916	Abnormality of chromosome segregation
OMIM:234200	PANK2	80025	HP:0008872	Feeding difficulties in infancy
OMIM:234200	PANK2	80025	HP:0000716	Depression
OMIM:234200	PANK2	80025	HP:0002019	Constipation
OMIM:234200	PANK2	80025	HP:0001760	Abnormality of the foot
OMIM:234200	PANK2	80025	HP:0000726	Dementia
OMIM:234200	PANK2	80025	HP:0001263	Global developmental delay
OMIM:234200	PANK2	80025	HP:0002015	Dysphagia
OMIM:234200	PANK2	80025	HP:0002180	Neurodegeneration
OMIM:234200	PANK2	80025	HP:0001288	Gait disturbance
OMIM:234200	PANK2	80025	HP:0000643	Blepharospasm
OMIM:234200	PANK2	80025	HP:0000708	Behavioral abnormality
OMIM:234200	PANK2	80025	HP:0001251	Ataxia
OMIM:234200	PANK2	80025	HP:0000752	Hyperactivity
OMIM:234200	PANK2	80025	HP:0001300	Parkinsonism
OMIM:234200	PANK2	80025	HP:0002067	Bradykinesia
OMIM:234200	PANK2	80025	HP:0007703	Abnormality of retinal pigmentation
OMIM:234200	PANK2	80025	HP:0002167	Neurological speech impairment
OMIM:234200	PANK2	80025	HP:0001250	Seizures
OMIM:234200	PANK2	80025	HP:0003198	Myopathy
OMIM:234200	PANK2	80025	HP:0001618	Dysphonia
OMIM:234200	PANK2	80025	HP:0001337	Tremor
OMIM:234200	PANK2	80025	HP:0002072	Chorea
OMIM:234200	PANK2	80025	HP:0001347	Hyperreflexia
OMIM:234200	PANK2	80025	HP:0000007	Autosomal recessive inheritance
OMIM:234200	PANK2	80025	HP:0002205	Recurrent respiratory infections
OMIM:234200	PANK2	80025	HP:0003678	Rapidly progressive
OMIM:234200	PANK2	80025	HP:0001266	Choreoathetosis
OMIM:234200	PANK2	80025	HP:0002063	Rigidity
OMIM:234200	PANK2	80025	HP:0000020	Urinary incontinence
OMIM:234200	PANK2	80025	HP:0000505	Visual impairment
OMIM:234200	PANK2	80025	HP:0001260	Dysarthria
OMIM:234200	PANK2	80025	HP:0008770	Obsessive-compulsive trait
OMIM:234200	PANK2	80025	HP:0001257	Spasticity
OMIM:234200	PANK2	80025	HP:0100034	Motor tics
OMIM:234200	PANK2	80025	HP:0000580	Pigmentary retinopathy
OMIM:234200	PANK2	80025	HP:0000648	Optic atrophy
OMIM:234200	PANK2	80025	HP:0001276	Hypertonia
OMIM:234200	PANK2	80025	HP:0001291	Abnormality of the cranial nerves
OMIM:234200	PANK2	80025	HP:0002376	Developmental regression
OMIM:234200	PANK2	80025	HP:0001824	Weight loss
OMIM:234200	PANK2	80025	HP:0007256	Abnormal pyramidal signs
OMIM:234200	PANK2	80025	HP:0000953	Hyperpigmentation of the skin
OMIM:234200	PANK2	80025	HP:0000546	Retinal degeneration
OMIM:234200	PANK2	80025	HP:0001367	Abnormal joint morphology
OMIM:612885	MCM8	84515	HP:0000027	Azoospermia
OMIM:612885	MCM8	84515	HP:0008734	Decreased testicular size
OMIM:612885	MCM8	84515	HP:0000786	Primary amenorrhea
OMIM:612885	MCM8	84515	HP:0000821	Hypothyroidism
OMIM:603034	COLQ	8292	HP:0002715	Abnormality of the immune system
OMIM:603034	COLQ	8292	HP:0003307	Hyperlordosis
OMIM:603034	COLQ	8292	HP:0003593	Infantile onset
OMIM:603034	COLQ	8292	HP:0002650	Scoliosis
OMIM:603034	COLQ	8292	HP:0000508	Ptosis
OMIM:603034	COLQ	8292	HP:0001260	Dysarthria
OMIM:603034	COLQ	8292	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:603034	COLQ	8292	HP:0003324	Generalized muscle weakness
OMIM:603034	COLQ	8292	HP:0008872	Feeding difficulties in infancy
OMIM:603034	COLQ	8292	HP:0002015	Dysphagia
OMIM:603034	COLQ	8292	HP:0000597	Ophthalmoparesis
OMIM:603034	COLQ	8292	HP:0002093	Respiratory insufficiency
OMIM:603034	COLQ	8292	HP:0001252	Muscular hypotonia
OMIM:603034	COLQ	8292	HP:0003690	Limb muscle weakness
OMIM:603034	COLQ	8292	HP:0000007	Autosomal recessive inheritance
OMIM:603034	LAMB2	3913	HP:0002715	Abnormality of the immune system
OMIM:603034	LAMB2	3913	HP:0003307	Hyperlordosis
OMIM:603034	LAMB2	3913	HP:0003593	Infantile onset
OMIM:603034	LAMB2	3913	HP:0002650	Scoliosis
OMIM:603034	LAMB2	3913	HP:0000508	Ptosis
OMIM:603034	LAMB2	3913	HP:0001260	Dysarthria
OMIM:603034	LAMB2	3913	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:603034	LAMB2	3913	HP:0003324	Generalized muscle weakness
OMIM:603034	LAMB2	3913	HP:0008872	Feeding difficulties in infancy
OMIM:603034	LAMB2	3913	HP:0002015	Dysphagia
OMIM:603034	LAMB2	3913	HP:0000597	Ophthalmoparesis
OMIM:603034	LAMB2	3913	HP:0002093	Respiratory insufficiency
OMIM:603034	LAMB2	3913	HP:0001252	Muscular hypotonia
OMIM:603034	LAMB2	3913	HP:0003690	Limb muscle weakness
OMIM:603034	LAMB2	3913	HP:0000007	Autosomal recessive inheritance
OMIM:603671	ZSWIM6	57688	HP:0000175	Cleft palate
OMIM:603671	ZSWIM6	57688	HP:0000508	Ptosis
OMIM:603671	ZSWIM6	57688	HP:0001762	Talipes equinovarus
OMIM:603671	ZSWIM6	57688	HP:0000316	Hypertelorism
OMIM:603671	ZSWIM6	57688	HP:0000455	Broad nasal tip
OMIM:603671	ZSWIM6	57688	HP:0000204	Cleft upper lip
OMIM:603671	ZSWIM6	57688	HP:0002119	Ventriculomegaly
OMIM:603671	ZSWIM6	57688	HP:0004122	Midline defect of the nose
OMIM:603671	ZSWIM6	57688	HP:0100258	Preaxial polydactyly
OMIM:603671	ZSWIM6	57688	HP:0000501	Glaucoma
OMIM:603671	ZSWIM6	57688	HP:0000028	Cryptorchidism
OMIM:603671	ZSWIM6	57688	HP:0002079	Hypoplasia of the corpus callosum
OMIM:603671	ZSWIM6	57688	HP:0001250	Seizures
OMIM:603671	ZSWIM6	57688	HP:0002435	Meningocele
OMIM:603671	ZSWIM6	57688	HP:0002084	Encephalocele
OMIM:603671	ZSWIM6	57688	HP:0000545	Myopia
OMIM:603671	ZSWIM6	57688	HP:0001249	Intellectual disability
OMIM:603671	ZSWIM6	57688	HP:0000506	Telecanthus
OMIM:603671	ZSWIM6	57688	HP:0040075	Hypopituitarism
OMIM:603671	ZSWIM6	57688	HP:0000248	Brachycephaly
OMIM:603671	ZSWIM6	57688	HP:0000429	Abnormality of the nasal alae
OMIM:603671	ZSWIM6	57688	HP:0001274	Agenesis of corpus callosum
OMIM:603671	ZSWIM6	57688	HP:0000006	Autosomal dominant inheritance
OMIM:603671	ZSWIM6	57688	HP:0010806	U-Shaped upper lip vermilion
OMIM:603671	ZSWIM6	57688	HP:0001159	Syndactyly
OMIM:615506	GDF2	2658	HP:0000006	Autosomal dominant inheritance
OMIM:615506	GDF2	2658	HP:0001009	Telangiectasia
OMIM:615506	GDF2	2658	HP:0001409	Portal hypertension
OMIM:615506	GDF2	2658	HP:0002910	Elevated hepatic transaminases
OMIM:615506	ENG	2022	HP:0000006	Autosomal dominant inheritance
OMIM:615506	ENG	2022	HP:0001009	Telangiectasia
OMIM:615506	ENG	2022	HP:0001409	Portal hypertension
OMIM:615506	ENG	2022	HP:0002910	Elevated hepatic transaminases
OMIM:615506	SMAD4	4089	HP:0000006	Autosomal dominant inheritance
OMIM:615506	SMAD4	4089	HP:0001009	Telangiectasia
OMIM:615506	SMAD4	4089	HP:0001409	Portal hypertension
OMIM:615506	SMAD4	4089	HP:0002910	Elevated hepatic transaminases
OMIM:615506	ACVRL1	94	HP:0000006	Autosomal dominant inheritance
OMIM:615506	ACVRL1	94	HP:0001009	Telangiectasia
OMIM:615506	ACVRL1	94	HP:0001409	Portal hypertension
OMIM:615506	ACVRL1	94	HP:0002910	Elevated hepatic transaminases
OMIM:611031	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:611031	PRRT2	112476	HP:0100660	Dyskinesia
OMIM:611031	PRRT2	112476	HP:0001332	Dystonia
OMIM:611031	PRRT2	112476	HP:0002072	Chorea
OMIM:615636	CEP41	95681	HP:0001252	Muscular hypotonia
OMIM:615636	CEP41	95681	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	CEP41	95681	HP:0000657	Oculomotor apraxia
OMIM:615636	CEP41	95681	HP:0000528	Anophthalmia
OMIM:615636	CEP41	95681	HP:0001263	Global developmental delay
OMIM:615636	CEP41	95681	HP:0002104	Apnea
OMIM:615636	CEP41	95681	HP:0000107	Renal cyst
OMIM:615636	CEP41	95681	HP:0000407	Sensorineural hearing impairment
OMIM:615636	CEP41	95681	HP:0001249	Intellectual disability
OMIM:615636	CEP41	95681	HP:0002089	Pulmonary hypoplasia
OMIM:615636	CEP41	95681	HP:0007291	Posterior fossa cyst
OMIM:615636	CEP41	95681	HP:0009932	Single naris
OMIM:615636	CEP41	95681	HP:0002085	Occipital encephalocele
OMIM:615636	CEP41	95681	HP:0000508	Ptosis
OMIM:615636	CEP41	95681	HP:0001251	Ataxia
OMIM:615636	CEP41	95681	HP:0001591	Bell-shaped thorax
OMIM:615636	CEP41	95681	HP:0002094	Dyspnea
OMIM:615636	CEP41	95681	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	CEP41	95681	HP:0000488	Retinopathy
OMIM:615636	CEP41	95681	HP:0004719	Hyperechogenic kidneys
OMIM:615636	CEP41	95681	HP:0003828	Variable expressivity
OMIM:615636	CEP41	95681	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	CEP41	95681	HP:0000007	Autosomal recessive inheritance
OMIM:615636	CEP41	95681	HP:0000486	Strabismus
OMIM:615636	C5ORF42	65250	HP:0001252	Muscular hypotonia
OMIM:615636	C5ORF42	65250	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	C5ORF42	65250	HP:0000657	Oculomotor apraxia
OMIM:615636	C5ORF42	65250	HP:0000528	Anophthalmia
OMIM:615636	C5ORF42	65250	HP:0001263	Global developmental delay
OMIM:615636	C5ORF42	65250	HP:0002104	Apnea
OMIM:615636	C5ORF42	65250	HP:0000107	Renal cyst
OMIM:615636	C5ORF42	65250	HP:0000407	Sensorineural hearing impairment
OMIM:615636	C5ORF42	65250	HP:0001249	Intellectual disability
OMIM:615636	C5ORF42	65250	HP:0002089	Pulmonary hypoplasia
OMIM:615636	C5ORF42	65250	HP:0007291	Posterior fossa cyst
OMIM:615636	C5ORF42	65250	HP:0009932	Single naris
OMIM:615636	C5ORF42	65250	HP:0002085	Occipital encephalocele
OMIM:615636	C5ORF42	65250	HP:0000508	Ptosis
OMIM:615636	C5ORF42	65250	HP:0001251	Ataxia
OMIM:615636	C5ORF42	65250	HP:0001591	Bell-shaped thorax
OMIM:615636	C5ORF42	65250	HP:0002094	Dyspnea
OMIM:615636	C5ORF42	65250	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	C5ORF42	65250	HP:0000488	Retinopathy
OMIM:615636	C5ORF42	65250	HP:0004719	Hyperechogenic kidneys
OMIM:615636	C5ORF42	65250	HP:0003828	Variable expressivity
OMIM:615636	C5ORF42	65250	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:615636	C5ORF42	65250	HP:0000486	Strabismus
OMIM:615636	B9D1	27077	HP:0001252	Muscular hypotonia
OMIM:615636	B9D1	27077	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	B9D1	27077	HP:0000657	Oculomotor apraxia
OMIM:615636	B9D1	27077	HP:0000528	Anophthalmia
OMIM:615636	B9D1	27077	HP:0001263	Global developmental delay
OMIM:615636	B9D1	27077	HP:0002104	Apnea
OMIM:615636	B9D1	27077	HP:0000107	Renal cyst
OMIM:615636	B9D1	27077	HP:0000407	Sensorineural hearing impairment
OMIM:615636	B9D1	27077	HP:0001249	Intellectual disability
OMIM:615636	B9D1	27077	HP:0002089	Pulmonary hypoplasia
OMIM:615636	B9D1	27077	HP:0007291	Posterior fossa cyst
OMIM:615636	B9D1	27077	HP:0009932	Single naris
OMIM:615636	B9D1	27077	HP:0002085	Occipital encephalocele
OMIM:615636	B9D1	27077	HP:0000508	Ptosis
OMIM:615636	B9D1	27077	HP:0001251	Ataxia
OMIM:615636	B9D1	27077	HP:0001591	Bell-shaped thorax
OMIM:615636	B9D1	27077	HP:0002094	Dyspnea
OMIM:615636	B9D1	27077	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	B9D1	27077	HP:0000488	Retinopathy
OMIM:615636	B9D1	27077	HP:0004719	Hyperechogenic kidneys
OMIM:615636	B9D1	27077	HP:0003828	Variable expressivity
OMIM:615636	B9D1	27077	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:615636	B9D1	27077	HP:0000486	Strabismus
OMIM:615636	TMEM237	65062	HP:0001252	Muscular hypotonia
OMIM:615636	TMEM237	65062	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:615636	TMEM237	65062	HP:0000528	Anophthalmia
OMIM:615636	TMEM237	65062	HP:0001263	Global developmental delay
OMIM:615636	TMEM237	65062	HP:0002104	Apnea
OMIM:615636	TMEM237	65062	HP:0000107	Renal cyst
OMIM:615636	TMEM237	65062	HP:0000407	Sensorineural hearing impairment
OMIM:615636	TMEM237	65062	HP:0001249	Intellectual disability
OMIM:615636	TMEM237	65062	HP:0002089	Pulmonary hypoplasia
OMIM:615636	TMEM237	65062	HP:0007291	Posterior fossa cyst
OMIM:615636	TMEM237	65062	HP:0009932	Single naris
OMIM:615636	TMEM237	65062	HP:0002085	Occipital encephalocele
OMIM:615636	TMEM237	65062	HP:0000508	Ptosis
OMIM:615636	TMEM237	65062	HP:0001251	Ataxia
OMIM:615636	TMEM237	65062	HP:0001591	Bell-shaped thorax
OMIM:615636	TMEM237	65062	HP:0002094	Dyspnea
OMIM:615636	TMEM237	65062	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	TMEM237	65062	HP:0000488	Retinopathy
OMIM:615636	TMEM237	65062	HP:0004719	Hyperechogenic kidneys
OMIM:615636	TMEM237	65062	HP:0003828	Variable expressivity
OMIM:615636	TMEM237	65062	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:615636	TMEM237	65062	HP:0000486	Strabismus
OMIM:615636	CSPP1	79848	HP:0001252	Muscular hypotonia
OMIM:615636	CSPP1	79848	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	CSPP1	79848	HP:0000657	Oculomotor apraxia
OMIM:615636	CSPP1	79848	HP:0000528	Anophthalmia
OMIM:615636	CSPP1	79848	HP:0001263	Global developmental delay
OMIM:615636	CSPP1	79848	HP:0002104	Apnea
OMIM:615636	CSPP1	79848	HP:0000107	Renal cyst
OMIM:615636	CSPP1	79848	HP:0000407	Sensorineural hearing impairment
OMIM:615636	CSPP1	79848	HP:0001249	Intellectual disability
OMIM:615636	CSPP1	79848	HP:0002089	Pulmonary hypoplasia
OMIM:615636	CSPP1	79848	HP:0007291	Posterior fossa cyst
OMIM:615636	CSPP1	79848	HP:0009932	Single naris
OMIM:615636	CSPP1	79848	HP:0002085	Occipital encephalocele
OMIM:615636	CSPP1	79848	HP:0000508	Ptosis
OMIM:615636	CSPP1	79848	HP:0001251	Ataxia
OMIM:615636	CSPP1	79848	HP:0001591	Bell-shaped thorax
OMIM:615636	CSPP1	79848	HP:0002094	Dyspnea
OMIM:615636	CSPP1	79848	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	CSPP1	79848	HP:0000488	Retinopathy
OMIM:615636	CSPP1	79848	HP:0004719	Hyperechogenic kidneys
OMIM:615636	CSPP1	79848	HP:0003828	Variable expressivity
OMIM:615636	CSPP1	79848	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:615636	CSPP1	79848	HP:0000486	Strabismus
OMIM:615636	TMEM67	91147	HP:0001252	Muscular hypotonia
OMIM:615636	TMEM67	91147	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	TMEM67	91147	HP:0000657	Oculomotor apraxia
OMIM:615636	TMEM67	91147	HP:0000528	Anophthalmia
OMIM:615636	TMEM67	91147	HP:0001263	Global developmental delay
OMIM:615636	TMEM67	91147	HP:0002104	Apnea
OMIM:615636	TMEM67	91147	HP:0000107	Renal cyst
OMIM:615636	TMEM67	91147	HP:0000407	Sensorineural hearing impairment
OMIM:615636	TMEM67	91147	HP:0001249	Intellectual disability
OMIM:615636	TMEM67	91147	HP:0002089	Pulmonary hypoplasia
OMIM:615636	TMEM67	91147	HP:0007291	Posterior fossa cyst
OMIM:615636	TMEM67	91147	HP:0009932	Single naris
OMIM:615636	TMEM67	91147	HP:0002085	Occipital encephalocele
OMIM:615636	TMEM67	91147	HP:0000508	Ptosis
OMIM:615636	TMEM67	91147	HP:0001251	Ataxia
OMIM:615636	TMEM67	91147	HP:0001591	Bell-shaped thorax
OMIM:615636	TMEM67	91147	HP:0002094	Dyspnea
OMIM:615636	TMEM67	91147	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	TMEM67	91147	HP:0000488	Retinopathy
OMIM:615636	TMEM67	91147	HP:0004719	Hyperechogenic kidneys
OMIM:615636	TMEM67	91147	HP:0003828	Variable expressivity
OMIM:615636	TMEM67	91147	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:615636	TMEM67	91147	HP:0000486	Strabismus
OMIM:615636	INPP5E	56623	HP:0001252	Muscular hypotonia
OMIM:615636	INPP5E	56623	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	INPP5E	56623	HP:0000657	Oculomotor apraxia
OMIM:615636	INPP5E	56623	HP:0000528	Anophthalmia
OMIM:615636	INPP5E	56623	HP:0001263	Global developmental delay
OMIM:615636	INPP5E	56623	HP:0002104	Apnea
OMIM:615636	INPP5E	56623	HP:0000107	Renal cyst
OMIM:615636	INPP5E	56623	HP:0000407	Sensorineural hearing impairment
OMIM:615636	INPP5E	56623	HP:0001249	Intellectual disability
OMIM:615636	INPP5E	56623	HP:0002089	Pulmonary hypoplasia
OMIM:615636	INPP5E	56623	HP:0007291	Posterior fossa cyst
OMIM:615636	INPP5E	56623	HP:0009932	Single naris
OMIM:615636	INPP5E	56623	HP:0002085	Occipital encephalocele
OMIM:615636	INPP5E	56623	HP:0000508	Ptosis
OMIM:615636	INPP5E	56623	HP:0001251	Ataxia
OMIM:615636	INPP5E	56623	HP:0001591	Bell-shaped thorax
OMIM:615636	INPP5E	56623	HP:0002094	Dyspnea
OMIM:615636	INPP5E	56623	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	INPP5E	56623	HP:0000488	Retinopathy
OMIM:615636	INPP5E	56623	HP:0004719	Hyperechogenic kidneys
OMIM:615636	INPP5E	56623	HP:0003828	Variable expressivity
OMIM:615636	INPP5E	56623	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:615636	INPP5E	56623	HP:0000486	Strabismus
OMIM:615636	TCTN1	79600	HP:0001252	Muscular hypotonia
OMIM:615636	TCTN1	79600	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	TCTN1	79600	HP:0000657	Oculomotor apraxia
OMIM:615636	TCTN1	79600	HP:0000528	Anophthalmia
OMIM:615636	TCTN1	79600	HP:0001263	Global developmental delay
OMIM:615636	TCTN1	79600	HP:0002104	Apnea
OMIM:615636	TCTN1	79600	HP:0000107	Renal cyst
OMIM:615636	TCTN1	79600	HP:0000407	Sensorineural hearing impairment
OMIM:615636	TCTN1	79600	HP:0001249	Intellectual disability
OMIM:615636	TCTN1	79600	HP:0002089	Pulmonary hypoplasia
OMIM:615636	TCTN1	79600	HP:0007291	Posterior fossa cyst
OMIM:615636	TCTN1	79600	HP:0009932	Single naris
OMIM:615636	TCTN1	79600	HP:0002085	Occipital encephalocele
OMIM:615636	TCTN1	79600	HP:0000508	Ptosis
OMIM:615636	TCTN1	79600	HP:0001251	Ataxia
OMIM:615636	TCTN1	79600	HP:0001591	Bell-shaped thorax
OMIM:615636	TCTN1	79600	HP:0002094	Dyspnea
OMIM:615636	TCTN1	79600	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	TCTN1	79600	HP:0000488	Retinopathy
OMIM:615636	TCTN1	79600	HP:0004719	Hyperechogenic kidneys
OMIM:615636	TCTN1	79600	HP:0003828	Variable expressivity
OMIM:615636	TCTN1	79600	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:615636	TCTN1	79600	HP:0000486	Strabismus
OMIM:615636	AHI1	54806	HP:0001252	Muscular hypotonia
OMIM:615636	AHI1	54806	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	AHI1	54806	HP:0000657	Oculomotor apraxia
OMIM:615636	AHI1	54806	HP:0000528	Anophthalmia
OMIM:615636	AHI1	54806	HP:0001263	Global developmental delay
OMIM:615636	AHI1	54806	HP:0002104	Apnea
OMIM:615636	AHI1	54806	HP:0000107	Renal cyst
OMIM:615636	AHI1	54806	HP:0000407	Sensorineural hearing impairment
OMIM:615636	AHI1	54806	HP:0001249	Intellectual disability
OMIM:615636	AHI1	54806	HP:0002089	Pulmonary hypoplasia
OMIM:615636	AHI1	54806	HP:0007291	Posterior fossa cyst
OMIM:615636	AHI1	54806	HP:0009932	Single naris
OMIM:615636	AHI1	54806	HP:0002085	Occipital encephalocele
OMIM:615636	AHI1	54806	HP:0000508	Ptosis
OMIM:615636	AHI1	54806	HP:0001251	Ataxia
OMIM:615636	AHI1	54806	HP:0001591	Bell-shaped thorax
OMIM:615636	AHI1	54806	HP:0002094	Dyspnea
OMIM:615636	AHI1	54806	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	AHI1	54806	HP:0000488	Retinopathy
OMIM:615636	AHI1	54806	HP:0004719	Hyperechogenic kidneys
OMIM:615636	AHI1	54806	HP:0003828	Variable expressivity
OMIM:615636	AHI1	54806	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	AHI1	54806	HP:0000007	Autosomal recessive inheritance
OMIM:615636	AHI1	54806	HP:0000486	Strabismus
OMIM:615636	MKS1	54903	HP:0001252	Muscular hypotonia
OMIM:615636	MKS1	54903	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	MKS1	54903	HP:0000657	Oculomotor apraxia
OMIM:615636	MKS1	54903	HP:0000528	Anophthalmia
OMIM:615636	MKS1	54903	HP:0001263	Global developmental delay
OMIM:615636	MKS1	54903	HP:0002104	Apnea
OMIM:615636	MKS1	54903	HP:0000107	Renal cyst
OMIM:615636	MKS1	54903	HP:0000407	Sensorineural hearing impairment
OMIM:615636	MKS1	54903	HP:0001249	Intellectual disability
OMIM:615636	MKS1	54903	HP:0002089	Pulmonary hypoplasia
OMIM:615636	MKS1	54903	HP:0007291	Posterior fossa cyst
OMIM:615636	MKS1	54903	HP:0009932	Single naris
OMIM:615636	MKS1	54903	HP:0002085	Occipital encephalocele
OMIM:615636	MKS1	54903	HP:0000508	Ptosis
OMIM:615636	MKS1	54903	HP:0001251	Ataxia
OMIM:615636	MKS1	54903	HP:0001591	Bell-shaped thorax
OMIM:615636	MKS1	54903	HP:0002094	Dyspnea
OMIM:615636	MKS1	54903	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	MKS1	54903	HP:0000488	Retinopathy
OMIM:615636	MKS1	54903	HP:0004719	Hyperechogenic kidneys
OMIM:615636	MKS1	54903	HP:0003828	Variable expressivity
OMIM:615636	MKS1	54903	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:615636	MKS1	54903	HP:0000486	Strabismus
OMIM:615636	TCTN2	79867	HP:0001252	Muscular hypotonia
OMIM:615636	TCTN2	79867	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	TCTN2	79867	HP:0000657	Oculomotor apraxia
OMIM:615636	TCTN2	79867	HP:0000528	Anophthalmia
OMIM:615636	TCTN2	79867	HP:0001263	Global developmental delay
OMIM:615636	TCTN2	79867	HP:0002104	Apnea
OMIM:615636	TCTN2	79867	HP:0000107	Renal cyst
OMIM:615636	TCTN2	79867	HP:0000407	Sensorineural hearing impairment
OMIM:615636	TCTN2	79867	HP:0001249	Intellectual disability
OMIM:615636	TCTN2	79867	HP:0002089	Pulmonary hypoplasia
OMIM:615636	TCTN2	79867	HP:0007291	Posterior fossa cyst
OMIM:615636	TCTN2	79867	HP:0009932	Single naris
OMIM:615636	TCTN2	79867	HP:0002085	Occipital encephalocele
OMIM:615636	TCTN2	79867	HP:0000508	Ptosis
OMIM:615636	TCTN2	79867	HP:0001251	Ataxia
OMIM:615636	TCTN2	79867	HP:0001591	Bell-shaped thorax
OMIM:615636	TCTN2	79867	HP:0002094	Dyspnea
OMIM:615636	TCTN2	79867	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	TCTN2	79867	HP:0000488	Retinopathy
OMIM:615636	TCTN2	79867	HP:0004719	Hyperechogenic kidneys
OMIM:615636	TCTN2	79867	HP:0003828	Variable expressivity
OMIM:615636	TCTN2	79867	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:615636	TCTN2	79867	HP:0000486	Strabismus
OMIM:615636	KIAA0586	9786	HP:0001252	Muscular hypotonia
OMIM:615636	KIAA0586	9786	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	KIAA0586	9786	HP:0000657	Oculomotor apraxia
OMIM:615636	KIAA0586	9786	HP:0000528	Anophthalmia
OMIM:615636	KIAA0586	9786	HP:0001263	Global developmental delay
OMIM:615636	KIAA0586	9786	HP:0002104	Apnea
OMIM:615636	KIAA0586	9786	HP:0000107	Renal cyst
OMIM:615636	KIAA0586	9786	HP:0000407	Sensorineural hearing impairment
OMIM:615636	KIAA0586	9786	HP:0001249	Intellectual disability
OMIM:615636	KIAA0586	9786	HP:0002089	Pulmonary hypoplasia
OMIM:615636	KIAA0586	9786	HP:0007291	Posterior fossa cyst
OMIM:615636	KIAA0586	9786	HP:0009932	Single naris
OMIM:615636	KIAA0586	9786	HP:0002085	Occipital encephalocele
OMIM:615636	KIAA0586	9786	HP:0000508	Ptosis
OMIM:615636	KIAA0586	9786	HP:0001251	Ataxia
OMIM:615636	KIAA0586	9786	HP:0001591	Bell-shaped thorax
OMIM:615636	KIAA0586	9786	HP:0002094	Dyspnea
OMIM:615636	KIAA0586	9786	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	KIAA0586	9786	HP:0000488	Retinopathy
OMIM:615636	KIAA0586	9786	HP:0004719	Hyperechogenic kidneys
OMIM:615636	KIAA0586	9786	HP:0003828	Variable expressivity
OMIM:615636	KIAA0586	9786	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	KIAA0586	9786	HP:0000007	Autosomal recessive inheritance
OMIM:615636	KIAA0586	9786	HP:0000486	Strabismus
OMIM:615636	ARL13B	200894	HP:0001252	Muscular hypotonia
OMIM:615636	ARL13B	200894	HP:0002365	Hypoplasia of the brainstem
OMIM:615636	ARL13B	200894	HP:0000657	Oculomotor apraxia
OMIM:615636	ARL13B	200894	HP:0000528	Anophthalmia
OMIM:615636	ARL13B	200894	HP:0001263	Global developmental delay
OMIM:615636	ARL13B	200894	HP:0002104	Apnea
OMIM:615636	ARL13B	200894	HP:0000107	Renal cyst
OMIM:615636	ARL13B	200894	HP:0000407	Sensorineural hearing impairment
OMIM:615636	ARL13B	200894	HP:0001249	Intellectual disability
OMIM:615636	ARL13B	200894	HP:0002089	Pulmonary hypoplasia
OMIM:615636	ARL13B	200894	HP:0007291	Posterior fossa cyst
OMIM:615636	ARL13B	200894	HP:0009932	Single naris
OMIM:615636	ARL13B	200894	HP:0002085	Occipital encephalocele
OMIM:615636	ARL13B	200894	HP:0000508	Ptosis
OMIM:615636	ARL13B	200894	HP:0001251	Ataxia
OMIM:615636	ARL13B	200894	HP:0001591	Bell-shaped thorax
OMIM:615636	ARL13B	200894	HP:0002094	Dyspnea
OMIM:615636	ARL13B	200894	HP:0011933	Elongated superior cerebellar peduncle
OMIM:615636	ARL13B	200894	HP:0000488	Retinopathy
OMIM:615636	ARL13B	200894	HP:0004719	Hyperechogenic kidneys
OMIM:615636	ARL13B	200894	HP:0003828	Variable expressivity
OMIM:615636	ARL13B	200894	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615636	ARL13B	200894	HP:0000007	Autosomal recessive inheritance
OMIM:615636	ARL13B	200894	HP:0000486	Strabismus
OMIM:615598	SERPINB7	8710	HP:0000982	Palmoplantar keratoderma
OMIM:615598	SERPINB7	8710	HP:0000007	Autosomal recessive inheritance
OMIM:615598	SERPINB7	8710	HP:0200042	Skin ulcer
OMIM:615598	SERPINB7	8710	HP:0000975	Hyperhidrosis
OMIM:300376	DMD	1756	HP:0001265	Hyporeflexia
OMIM:300376	DMD	1756	HP:0003326	Myalgia
OMIM:300376	DMD	1756	HP:0003581	Adult onset
OMIM:300376	DMD	1756	HP:0001324	Muscle weakness
OMIM:300376	DMD	1756	HP:0003707	Calf muscle pseudohypertrophy
OMIM:300376	DMD	1756	HP:0003560	Muscular dystrophy
OMIM:300376	DMD	1756	HP:0011675	Arrhythmia
OMIM:300376	DMD	1756	HP:0003236	Elevated serum creatine phosphokinase
OMIM:300376	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:300376	DMD	1756	HP:0001638	Cardiomyopathy
ORPHANET:614	CLCN1	1180	HP:0003457	EMG abnormality
OMIM:612951	RNASET2	8635	HP:0002514	Cerebral calcification
OMIM:612951	RNASET2	8635	HP:0000750	Delayed speech and language development
OMIM:612951	RNASET2	8635	HP:0001250	Seizures
OMIM:612951	RNASET2	8635	HP:0001251	Ataxia
OMIM:612951	RNASET2	8635	HP:0000407	Sensorineural hearing impairment
OMIM:612951	RNASET2	8635	HP:0011344	Severe global developmental delay
OMIM:612951	RNASET2	8635	HP:0000639	Nystagmus
OMIM:612951	RNASET2	8635	HP:0003677	Slow progression
OMIM:612951	RNASET2	8635	HP:0002465	Poor speech
OMIM:612951	RNASET2	8635	HP:0001332	Dystonia
OMIM:612951	RNASET2	8635	HP:0002352	Leukoencephalopathy
OMIM:612951	RNASET2	8635	HP:0002305	Athetosis
OMIM:612951	RNASET2	8635	HP:0000252	Microcephaly
OMIM:612951	RNASET2	8635	HP:0000007	Autosomal recessive inheritance
OMIM:612951	RNASET2	8635	HP:0003593	Infantile onset
OMIM:612951	RNASET2	8635	HP:0001257	Spasticity
OMIM:612951	RNASET2	8635	HP:0002119	Ventriculomegaly
OMIM:612951	RNASET2	8635	HP:0011400	Abnormal CNS myelination
OMIM:269880	PIK3R1	5295	HP:0000430	Underdeveloped nasal alae
OMIM:269880	PIK3R1	5295	HP:0000689	Dental malocclusion
OMIM:269880	PIK3R1	5295	HP:0002715	Abnormality of the immune system
OMIM:269880	PIK3R1	5295	HP:0000963	Thin skin
OMIM:269880	PIK3R1	5295	HP:0000684	Delayed eruption of teeth
OMIM:269880	PIK3R1	5295	HP:0001511	Intrauterine growth retardation
OMIM:269880	PIK3R1	5295	HP:0000819	Diabetes mellitus
OMIM:269880	PIK3R1	5295	HP:0000431	Wide nasal bridge
OMIM:269880	PIK3R1	5295	HP:0007759	Opacification of the corneal stroma
OMIM:269880	PIK3R1	5295	HP:0011362	Abnormal hair quantity
OMIM:269880	PIK3R1	5295	HP:0004209	Clinodactyly of the 5th finger
OMIM:269880	PIK3R1	5295	HP:0002007	Frontal bossing
OMIM:269880	PIK3R1	5295	HP:0002167	Neurological speech impairment
OMIM:269880	PIK3R1	5295	HP:0000023	Inguinal hernia
OMIM:269880	PIK3R1	5295	HP:0000407	Sensorineural hearing impairment
OMIM:269880	PIK3R1	5295	HP:0000506	Telecanthus
OMIM:269880	PIK3R1	5295	HP:0000490	Deeply set eye
OMIM:269880	PIK3R1	5295	HP:0000316	Hypertelorism
OMIM:269880	PIK3R1	5295	HP:0000501	Glaucoma
OMIM:269880	PIK3R1	5295	HP:0000691	Microdontia
OMIM:269880	PIK3R1	5295	HP:0100678	Premature skin wrinkling
OMIM:269880	PIK3R1	5295	HP:0000518	Cataract
OMIM:269880	PIK3R1	5295	HP:0000325	Triangular face
OMIM:269880	PIK3R1	5295	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:269880	PIK3R1	5295	HP:0001161	Hand polydactyly
OMIM:269880	PIK3R1	5295	HP:0003272	Abnormality of the hip bone
OMIM:269880	PIK3R1	5295	HP:0001382	Joint hypermobility
OMIM:269880	PIK3R1	5295	HP:0004299	Hernia of the abdominal wall
OMIM:269880	PIK3R1	5295	HP:0000006	Autosomal dominant inheritance
OMIM:269880	PIK3R1	5295	HP:0000336	Prominent supraorbital ridges
OMIM:269880	PIK3R1	5295	HP:0030084	Clinodactyly
OMIM:269880	PIK3R1	5295	HP:0004322	Short stature
OMIM:269880	PIK3R1	5295	HP:0001824	Weight loss
OMIM:269880	PIK3R1	5295	HP:0000347	Micrognathia
OMIM:269880	PIK3R1	5295	HP:0000615	Abnormality of the pupil
OMIM:269880	PIK3R1	5295	HP:0001518	Small for gestational age
OMIM:269880	PIK3R1	5295	HP:0000682	Abnormality of dental enamel
OMIM:269880	PIK3R1	5295	HP:0000485	Megalocornea
OMIM:269880	PIK3R1	5295	HP:0011220	Prominent forehead
OMIM:269880	PIK3R1	5295	HP:0000593	Abnormality of the anterior chamber
OMIM:269880	PIK3R1	5295	HP:0003074	Hyperglycemia
OMIM:269880	PIK3R1	5295	HP:0009466	Radial deviation of finger
OMIM:269880	PIK3R1	5295	HP:0000627	Posterior embryotoxon
OMIM:269880	PIK3R1	5295	HP:0009124	Abnormality of adipose tissue
OMIM:269880	PIK3R1	5295	HP:0002750	Delayed skeletal maturation
OMIM:269880	PIK3R1	5295	HP:0000787	Nephrolithiasis
OMIM:269880	PIK3R1	5295	HP:0000545	Myopia
OMIM:269880	PIK3R1	5295	HP:0000833	Glucose intolerance
OMIM:269880	PIK3R1	5295	HP:0000272	Malar flattening
OMIM:269880	PIK3R1	5295	HP:0001156	Brachydactyly syndrome
OMIM:269880	PIK3R1	5295	HP:0000855	Insulin resistance
OMIM:269880	PIK3R1	5295	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:269880	PIK3R1	5295	HP:0000750	Delayed speech and language development
OMIM:269880	PIK3R1	5295	HP:0001388	Joint laxity
OMIM:269880	PIK3R1	5295	HP:0009125	Lipodystrophy
OMIM:269880	PIK3R1	5295	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:269880	PIK3R1	5295	HP:0000668	Hypodontia
OMIM:269880	PIK3R1	5295	HP:0000400	Macrotia
ORPHANET:231178	PDZD7	79955	HP:0000670	Carious teeth
ORPHANET:231178	PDZD7	79955	HP:0000639	Nystagmus
ORPHANET:231178	PDZD7	79955	HP:0000407	Sensorineural hearing impairment
ORPHANET:231178	PDZD7	79955	HP:0000505	Visual impairment
ORPHANET:231178	PDZD7	79955	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:231178	PDZD7	79955	HP:0000518	Cataract
ORPHANET:231178	PDZD7	79955	HP:0000738	Hallucinations
ORPHANET:231178	PDZD7	79955	HP:0002311	Incoordination
ORPHANET:231178	PDZD7	79955	HP:0000512	Abnormal electroretinogram
ORPHANET:231178	PDZD7	79955	HP:0000662	Nyctalopia
ORPHANET:231178	PDZD7	79955	HP:0000545	Myopia
ORPHANET:231178	PDZD7	79955	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231178	PDZD7	79955	HP:0000691	Microdontia
ORPHANET:231178	PDZD7	79955	HP:0001123	Visual field defect
ORPHANET:231178	PDZD7	79955	HP:0000682	Abnormality of dental enamel
ORPHANET:231178	PDZD7	79955	HP:0002120	Cerebral cortical atrophy
ORPHANET:231178	DFNB31	25861	HP:0000670	Carious teeth
ORPHANET:231178	DFNB31	25861	HP:0000639	Nystagmus
ORPHANET:231178	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
ORPHANET:231178	DFNB31	25861	HP:0000505	Visual impairment
ORPHANET:231178	DFNB31	25861	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:231178	DFNB31	25861	HP:0000518	Cataract
ORPHANET:231178	DFNB31	25861	HP:0000738	Hallucinations
ORPHANET:231178	DFNB31	25861	HP:0002311	Incoordination
ORPHANET:231178	DFNB31	25861	HP:0000512	Abnormal electroretinogram
ORPHANET:231178	DFNB31	25861	HP:0000662	Nyctalopia
ORPHANET:231178	DFNB31	25861	HP:0000545	Myopia
ORPHANET:231178	DFNB31	25861	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231178	DFNB31	25861	HP:0000691	Microdontia
ORPHANET:231178	DFNB31	25861	HP:0001123	Visual field defect
ORPHANET:231178	DFNB31	25861	HP:0000682	Abnormality of dental enamel
ORPHANET:231178	DFNB31	25861	HP:0002120	Cerebral cortical atrophy
ORPHANET:231178	USH2A	7399	HP:0000670	Carious teeth
ORPHANET:231178	USH2A	7399	HP:0000639	Nystagmus
ORPHANET:231178	USH2A	7399	HP:0000407	Sensorineural hearing impairment
ORPHANET:231178	USH2A	7399	HP:0000505	Visual impairment
ORPHANET:231178	USH2A	7399	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:231178	USH2A	7399	HP:0000518	Cataract
ORPHANET:231178	USH2A	7399	HP:0000738	Hallucinations
ORPHANET:231178	USH2A	7399	HP:0002311	Incoordination
ORPHANET:231178	USH2A	7399	HP:0000512	Abnormal electroretinogram
ORPHANET:231178	USH2A	7399	HP:0000662	Nyctalopia
ORPHANET:231178	USH2A	7399	HP:0000545	Myopia
ORPHANET:231178	USH2A	7399	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231178	USH2A	7399	HP:0000691	Microdontia
ORPHANET:231178	USH2A	7399	HP:0001123	Visual field defect
ORPHANET:231178	USH2A	7399	HP:0000682	Abnormality of dental enamel
ORPHANET:231178	USH2A	7399	HP:0002120	Cerebral cortical atrophy
ORPHANET:231178	MYO7A	4647	HP:0000670	Carious teeth
ORPHANET:231178	MYO7A	4647	HP:0000639	Nystagmus
ORPHANET:231178	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
ORPHANET:231178	MYO7A	4647	HP:0000505	Visual impairment
ORPHANET:231178	MYO7A	4647	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:231178	MYO7A	4647	HP:0000518	Cataract
ORPHANET:231178	MYO7A	4647	HP:0000738	Hallucinations
ORPHANET:231178	MYO7A	4647	HP:0002311	Incoordination
ORPHANET:231178	MYO7A	4647	HP:0000512	Abnormal electroretinogram
ORPHANET:231178	MYO7A	4647	HP:0000662	Nyctalopia
ORPHANET:231178	MYO7A	4647	HP:0000545	Myopia
ORPHANET:231178	MYO7A	4647	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231178	MYO7A	4647	HP:0000691	Microdontia
ORPHANET:231178	MYO7A	4647	HP:0001123	Visual field defect
ORPHANET:231178	MYO7A	4647	HP:0000682	Abnormality of dental enamel
ORPHANET:231178	MYO7A	4647	HP:0002120	Cerebral cortical atrophy
ORPHANET:231178	ADGRV1	84059	HP:0000670	Carious teeth
ORPHANET:231178	ADGRV1	84059	HP:0000639	Nystagmus
ORPHANET:231178	ADGRV1	84059	HP:0000407	Sensorineural hearing impairment
ORPHANET:231178	ADGRV1	84059	HP:0000505	Visual impairment
ORPHANET:231178	ADGRV1	84059	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:231178	ADGRV1	84059	HP:0000518	Cataract
ORPHANET:231178	ADGRV1	84059	HP:0000738	Hallucinations
ORPHANET:231178	ADGRV1	84059	HP:0002311	Incoordination
ORPHANET:231178	ADGRV1	84059	HP:0000512	Abnormal electroretinogram
ORPHANET:231178	ADGRV1	84059	HP:0000662	Nyctalopia
ORPHANET:231178	ADGRV1	84059	HP:0000545	Myopia
ORPHANET:231178	ADGRV1	84059	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231178	ADGRV1	84059	HP:0000691	Microdontia
ORPHANET:231178	ADGRV1	84059	HP:0001123	Visual field defect
ORPHANET:231178	ADGRV1	84059	HP:0000682	Abnormality of dental enamel
ORPHANET:231178	ADGRV1	84059	HP:0002120	Cerebral cortical atrophy
OMIM:134700	G6PD	2539	HP:0000006	Autosomal dominant inheritance
OMIM:125420	DSPP	1834	HP:0003771	Pulp stones
OMIM:125420	DSPP	1834	HP:0000006	Autosomal dominant inheritance
OMIM:166900	SLC4A1	6521	HP:0000006	Autosomal dominant inheritance
OMIM:166900	SLC4A1	6521	HP:0001878	Hemolytic anemia
OMIM:172870	CRB1	23418	HP:0000565	Esotropia
OMIM:172870	CRB1	23418	HP:0000655	Vitreoretinal degeneration
OMIM:172870	CRB1	23418	HP:0000540	Hypermetropia
OMIM:172870	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:615849	GLI2	2736	HP:0001263	Global developmental delay
OMIM:615849	GLI2	2736	HP:0000204	Cleft upper lip
OMIM:615849	GLI2	2736	HP:0100259	Postaxial polydactyly
OMIM:615849	GLI2	2736	HP:0000028	Cryptorchidism
OMIM:615849	GLI2	2736	HP:0000175	Cleft palate
OMIM:615849	GLI2	2736	HP:0011800	Hypoplasia of midface
OMIM:615849	GLI2	2736	HP:0000054	Micropenis
OMIM:615849	GLI2	2736	HP:0004322	Short stature
OMIM:615849	GLI2	2736	HP:0000601	Hypotelorism
OMIM:615849	GLI2	2736	HP:0040075	Hypopituitarism
OMIM:615849	GLI2	2736	HP:0000873	Diabetes insipidus
OMIM:276600	TAT	6898	HP:0002167	Neurological speech impairment
OMIM:276600	TAT	6898	HP:0001249	Intellectual disability
OMIM:276600	TAT	6898	HP:0000982	Palmoplantar keratoderma
OMIM:276600	TAT	6898	HP:0001510	Growth delay
OMIM:276600	TAT	6898	HP:0002311	Incoordination
OMIM:276600	TAT	6898	HP:0007759	Opacification of the corneal stroma
OMIM:276600	TAT	6898	HP:0001337	Tremor
OMIM:276600	TAT	6898	HP:0000975	Hyperhidrosis
OMIM:276600	TAT	6898	HP:0000007	Autosomal recessive inheritance
OMIM:276600	TAT	6898	HP:0003161	4-Hydroxyphenylpyruvic aciduria
OMIM:276600	TAT	6898	HP:0000505	Visual impairment
OMIM:276600	TAT	6898	HP:0001597	Abnormality of the nail
OMIM:276600	TAT	6898	HP:0003355	Aminoaciduria
OMIM:276600	TAT	6898	HP:0000613	Photophobia
OMIM:276600	TAT	6898	HP:0003231	Hypertyrosinemia
OMIM:276600	TAT	6898	HP:0000639	Nystagmus
OMIM:276600	TAT	6898	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:276600	TAT	6898	HP:0000252	Microcephaly
OMIM:276600	TAT	6898	HP:0001250	Seizures
OMIM:276600	TAT	6898	HP:0100543	Cognitive impairment
OMIM:276600	TAT	6898	HP:0100533	Inflammatory abnormality of the eye
OMIM:276600	TAT	6898	HP:0000951	Abnormality of the skin
OMIM:305390	FZD4	8322	HP:0000541	Retinal detachment
OMIM:305390	FZD4	8322	HP:0012841	Retinal vascular tortuosity
OMIM:305390	FZD4	8322	HP:0001419	X-linked recessive inheritance
OMIM:305390	FZD4	8322	HP:0000639	Nystagmus
OMIM:305390	FZD4	8322	HP:0000490	Deeply set eye
OMIM:305390	FZD4	8322	HP:0007663	Reduced visual acuity
OMIM:305390	FZD4	8322	HP:0000568	Microphthalmia
OMIM:305390	TSPAN12	23554	HP:0000541	Retinal detachment
OMIM:305390	TSPAN12	23554	HP:0012841	Retinal vascular tortuosity
OMIM:305390	TSPAN12	23554	HP:0001419	X-linked recessive inheritance
OMIM:305390	TSPAN12	23554	HP:0000639	Nystagmus
OMIM:305390	TSPAN12	23554	HP:0000490	Deeply set eye
OMIM:305390	TSPAN12	23554	HP:0007663	Reduced visual acuity
OMIM:305390	TSPAN12	23554	HP:0000568	Microphthalmia
OMIM:305390	ZNF408	79797	HP:0000541	Retinal detachment
OMIM:305390	ZNF408	79797	HP:0012841	Retinal vascular tortuosity
OMIM:305390	ZNF408	79797	HP:0001419	X-linked recessive inheritance
OMIM:305390	ZNF408	79797	HP:0000639	Nystagmus
OMIM:305390	ZNF408	79797	HP:0000490	Deeply set eye
OMIM:305390	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:305390	ZNF408	79797	HP:0000568	Microphthalmia
OMIM:305390	NDP	4693	HP:0000541	Retinal detachment
OMIM:305390	NDP	4693	HP:0012841	Retinal vascular tortuosity
OMIM:305390	NDP	4693	HP:0001419	X-linked recessive inheritance
OMIM:305390	NDP	4693	HP:0000639	Nystagmus
OMIM:305390	NDP	4693	HP:0000490	Deeply set eye
OMIM:305390	NDP	4693	HP:0007663	Reduced visual acuity
OMIM:305390	NDP	4693	HP:0000568	Microphthalmia
OMIM:305390	LRP5	4041	HP:0000541	Retinal detachment
OMIM:305390	LRP5	4041	HP:0012841	Retinal vascular tortuosity
OMIM:305390	LRP5	4041	HP:0001419	X-linked recessive inheritance
OMIM:305390	LRP5	4041	HP:0000639	Nystagmus
OMIM:305390	LRP5	4041	HP:0000490	Deeply set eye
OMIM:305390	LRP5	4041	HP:0007663	Reduced visual acuity
OMIM:305390	LRP5	4041	HP:0000568	Microphthalmia
OMIM:104311	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:104311	PSEN1	5663	HP:0000726	Dementia
OMIM:104311	PSEN1	5663	HP:0001300	Parkinsonism
OMIM:104311	PSEN1	5663	HP:0003593	Infantile onset
OMIM:217300	KERA	11081	HP:0000007	Autosomal recessive inheritance
OMIM:217300	KERA	11081	HP:0000540	Hypermetropia
OMIM:217300	KERA	11081	HP:0001084	Corneal arcus
OMIM:217300	KERA	11081	HP:0007720	Flat cornea
OMIM:217300	KERA	11081	HP:0100689	Decreased corneal thickness
OMIM:180100	RLBP1	6017	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:180100	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:180100	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:180100	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	SPATA7	55812	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:180100	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:180100	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:180100	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	ARL6	84100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:180100	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:180100	ARL6	84100	HP:0000662	Nyctalopia
OMIM:180100	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	CERKL	375298	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:180100	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:180100	CERKL	375298	HP:0000662	Nyctalopia
OMIM:180100	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	PRPF31	26121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:180100	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:180100	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:180100	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	TTC8	123016	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:180100	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:180100	TTC8	123016	HP:0000662	Nyctalopia
OMIM:180100	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	PROM1	8842	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:180100	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:180100	PROM1	8842	HP:0000662	Nyctalopia
OMIM:180100	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	LRAT	9227	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:180100	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:180100	LRAT	9227	HP:0000662	Nyctalopia
OMIM:180100	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	IFT140	9742	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:180100	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:180100	IFT140	9742	HP:0000662	Nyctalopia
OMIM:180100	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	BEST1	7439	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:180100	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:180100	BEST1	7439	HP:0000662	Nyctalopia
OMIM:180100	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	NEK2	4751	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:180100	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:180100	NEK2	4751	HP:0000662	Nyctalopia
OMIM:180100	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	ARL2BP	23568	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:180100	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:180100	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:180100	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	NR2E3	10002	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:180100	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:180100	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:180100	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	EYS	346007	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:180100	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:180100	EYS	346007	HP:0000662	Nyctalopia
OMIM:180100	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	MAK	4117	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:180100	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:180100	MAK	4117	HP:0000662	Nyctalopia
OMIM:180100	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	SAG	6295	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:180100	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:180100	SAG	6295	HP:0000662	Nyctalopia
OMIM:180100	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	ABCA4	24	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:180100	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:180100	ABCA4	24	HP:0000662	Nyctalopia
OMIM:180100	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	PDE6A	5145	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:180100	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:180100	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:180100	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	PDE6G	5148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:180100	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:180100	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:180100	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	IMPDH1	3614	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:180100	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:180100	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:180100	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	OFD1	8481	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:180100	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:180100	OFD1	8481	HP:0000662	Nyctalopia
OMIM:180100	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	GUCA1B	2979	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:180100	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:180100	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:180100	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	NRL	4901	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:180100	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:180100	NRL	4901	HP:0000662	Nyctalopia
OMIM:180100	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	PDE6B	5158	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:180100	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:180100	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:180100	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	KLHL7	55975	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:180100	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:180100	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:180100	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	PRPF4	9128	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:180100	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:180100	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:180100	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	PRPF3	9129	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:180100	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:180100	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:180100	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	FAM161A	84140	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:180100	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:180100	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:180100	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	IFT172	26160	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:180100	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:180100	IFT172	26160	HP:0000662	Nyctalopia
OMIM:180100	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	KIZ	55857	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:180100	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:180100	KIZ	55857	HP:0000662	Nyctalopia
OMIM:180100	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	CDHR1	92211	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:180100	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:180100	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:180100	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	ZNF408	79797	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:180100	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:180100	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:180100	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	RBP3	5949	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:180100	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:180100	RBP3	5949	HP:0000662	Nyctalopia
OMIM:180100	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	HGSNAT	138050	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:180100	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:180100	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:180100	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	FSCN2	25794	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:180100	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:180100	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:180100	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	PRCD	768206	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:180100	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:180100	PRCD	768206	HP:0000662	Nyctalopia
OMIM:180100	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	BBS2	583	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:180100	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:180100	BBS2	583	HP:0000662	Nyctalopia
OMIM:180100	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	RDH12	145226	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:180100	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:180100	RDH12	145226	HP:0000662	Nyctalopia
OMIM:180100	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	PRPH2	5961	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:180100	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:180100	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:180100	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	DHDDS	79947	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:180100	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:180100	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:180100	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	ROM1	6094	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:180100	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:180100	ROM1	6094	HP:0000662	Nyctalopia
OMIM:180100	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	C2ORF71	388939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:180100	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:180100	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:180100	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	RP9	6100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:180100	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:180100	RP9	6100	HP:0000662	Nyctalopia
OMIM:180100	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	PRPF6	24148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:180100	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:180100	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:180100	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	RP1	6101	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:180100	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:180100	RP1	6101	HP:0000662	Nyctalopia
OMIM:180100	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	RP2	6102	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:180100	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:180100	RP2	6102	HP:0000662	Nyctalopia
OMIM:180100	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	RPGR	6103	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:180100	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:180100	RPGR	6103	HP:0000662	Nyctalopia
OMIM:180100	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	SEMA4A	64218	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:180100	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:180100	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:180100	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	C8ORF37	157657	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:180100	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:180100	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:180100	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	IDH3B	3420	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:180100	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:180100	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:180100	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	MERTK	10461	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:180100	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:180100	MERTK	10461	HP:0000662	Nyctalopia
OMIM:180100	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	PRPF8	10594	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:180100	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:180100	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:180100	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	TOPORS	10210	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:180100	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:180100	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:180100	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	USH2A	7399	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:180100	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:180100	USH2A	7399	HP:0000662	Nyctalopia
OMIM:180100	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	RPE65	6121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:180100	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:180100	RPE65	6121	HP:0000662	Nyctalopia
OMIM:180100	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	CLRN1	7401	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:180100	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:180100	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:180100	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	CNGB1	1258	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:180100	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:180100	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:180100	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	RGR	5995	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:180100	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:180100	RGR	5995	HP:0000662	Nyctalopia
OMIM:180100	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	CNGA1	1259	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:180100	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:180100	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:180100	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	TUB	7275	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:180100	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:180100	TUB	7275	HP:0000662	Nyctalopia
OMIM:180100	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	SNRNP200	23020	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:180100	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:180100	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:180100	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	SLC7A14	57709	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:180100	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:180100	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:180100	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	TULP1	7287	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:180100	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:180100	TULP1	7287	HP:0000662	Nyctalopia
OMIM:180100	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	RHO	6010	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:180100	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:180100	RHO	6010	HP:0000662	Nyctalopia
OMIM:180100	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	CA4	762	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:180100	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:180100	CA4	762	HP:0000662	Nyctalopia
OMIM:180100	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	CRB1	23418	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:180100	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:180100	CRB1	23418	HP:0000662	Nyctalopia
OMIM:180100	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	IMPG2	50939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:180100	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:180100	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:180100	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	ZNF513	130557	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:180100	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:180100	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:180100	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180100	CRX	1406	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180100	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:180100	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:180100	CRX	1406	HP:0000662	Nyctalopia
OMIM:180100	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:116860	PDCD10	11235	HP:0002315	Headache
OMIM:116860	PDCD10	11235	HP:0002170	Intracranial hemorrhage
OMIM:116860	PDCD10	11235	HP:0000006	Autosomal dominant inheritance
OMIM:116860	PDCD10	11235	HP:0001250	Seizures
OMIM:116860	PDCD10	11235	HP:0003011	Abnormality of the musculature
OMIM:116860	PDCD10	11235	HP:0003829	Incomplete penetrance
OMIM:116860	PDCD10	11235	HP:0002514	Cerebral calcification
OMIM:116860	PDCD10	11235	HP:0001425	Heterogeneous
OMIM:116860	PDCD10	11235	HP:0000951	Abnormality of the skin
OMIM:116860	CCM2	83605	HP:0002315	Headache
OMIM:116860	CCM2	83605	HP:0002170	Intracranial hemorrhage
OMIM:116860	CCM2	83605	HP:0000006	Autosomal dominant inheritance
OMIM:116860	CCM2	83605	HP:0001250	Seizures
OMIM:116860	CCM2	83605	HP:0003011	Abnormality of the musculature
OMIM:116860	CCM2	83605	HP:0003829	Incomplete penetrance
OMIM:116860	CCM2	83605	HP:0002514	Cerebral calcification
OMIM:116860	CCM2	83605	HP:0001425	Heterogeneous
OMIM:116860	CCM2	83605	HP:0000951	Abnormality of the skin
OMIM:116860	KRIT1	889	HP:0002315	Headache
OMIM:116860	KRIT1	889	HP:0002170	Intracranial hemorrhage
OMIM:116860	KRIT1	889	HP:0000006	Autosomal dominant inheritance
OMIM:116860	KRIT1	889	HP:0001250	Seizures
OMIM:116860	KRIT1	889	HP:0003011	Abnormality of the musculature
OMIM:116860	KRIT1	889	HP:0003829	Incomplete penetrance
OMIM:116860	KRIT1	889	HP:0002514	Cerebral calcification
OMIM:116860	KRIT1	889	HP:0001425	Heterogeneous
OMIM:116860	KRIT1	889	HP:0000951	Abnormality of the skin
OMIM:613986	GLI2	2736	HP:0004322	Short stature
OMIM:613986	GLI2	2736	HP:0000006	Autosomal dominant inheritance
OMIM:613986	HESX1	8820	HP:0004322	Short stature
OMIM:613986	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:613986	OTX2	5015	HP:0004322	Short stature
OMIM:613986	OTX2	5015	HP:0000006	Autosomal dominant inheritance
OMIM:613986	POU1F1	5449	HP:0004322	Short stature
OMIM:613986	POU1F1	5449	HP:0000006	Autosomal dominant inheritance
OMIM:613986	PROP1	5626	HP:0004322	Short stature
OMIM:613986	PROP1	5626	HP:0000006	Autosomal dominant inheritance
OMIM:613986	LHX4	89884	HP:0004322	Short stature
OMIM:613986	LHX4	89884	HP:0000006	Autosomal dominant inheritance
OMIM:259420	CREB3L1	90993	HP:0000592	Blue sclerae
OMIM:259420	CREB3L1	90993	HP:0000347	Micrognathia
OMIM:259420	CREB3L1	90993	HP:0000365	Hearing impairment
OMIM:259420	CREB3L1	90993	HP:0002645	Wormian bones
OMIM:259420	CREB3L1	90993	HP:0002757	Recurrent fractures
OMIM:259420	CREB3L1	90993	HP:0000006	Autosomal dominant inheritance
OMIM:259420	CREB3L1	90993	HP:0000325	Triangular face
OMIM:259420	CREB3L1	90993	HP:0002007	Frontal bossing
OMIM:259420	CREB3L1	90993	HP:0002982	Tibial bowing
OMIM:259420	CREB3L1	90993	HP:0002650	Scoliosis
OMIM:259420	CREB3L1	90993	HP:0000007	Autosomal recessive inheritance
OMIM:259420	CREB3L1	90993	HP:0002808	Kyphosis
OMIM:259420	CREB3L1	90993	HP:0000765	Abnormality of the thorax
OMIM:259420	CREB3L1	90993	HP:0003100	Slender long bone
OMIM:259420	CREB3L1	90993	HP:0000707	Abnormality of the nervous system
OMIM:259420	PPIB	5479	HP:0000592	Blue sclerae
OMIM:259420	PPIB	5479	HP:0000347	Micrognathia
OMIM:259420	PPIB	5479	HP:0000365	Hearing impairment
OMIM:259420	PPIB	5479	HP:0002645	Wormian bones
OMIM:259420	PPIB	5479	HP:0002757	Recurrent fractures
OMIM:259420	PPIB	5479	HP:0000006	Autosomal dominant inheritance
OMIM:259420	PPIB	5479	HP:0000325	Triangular face
OMIM:259420	PPIB	5479	HP:0002007	Frontal bossing
OMIM:259420	PPIB	5479	HP:0002982	Tibial bowing
OMIM:259420	PPIB	5479	HP:0002650	Scoliosis
OMIM:259420	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:259420	PPIB	5479	HP:0002808	Kyphosis
OMIM:259420	PPIB	5479	HP:0000765	Abnormality of the thorax
OMIM:259420	PPIB	5479	HP:0003100	Slender long bone
OMIM:259420	PPIB	5479	HP:0000707	Abnormality of the nervous system
OMIM:259420	SERPINH1	871	HP:0000592	Blue sclerae
OMIM:259420	SERPINH1	871	HP:0000347	Micrognathia
OMIM:259420	SERPINH1	871	HP:0000365	Hearing impairment
OMIM:259420	SERPINH1	871	HP:0002645	Wormian bones
OMIM:259420	SERPINH1	871	HP:0002757	Recurrent fractures
OMIM:259420	SERPINH1	871	HP:0000006	Autosomal dominant inheritance
OMIM:259420	SERPINH1	871	HP:0000325	Triangular face
OMIM:259420	SERPINH1	871	HP:0002007	Frontal bossing
OMIM:259420	SERPINH1	871	HP:0002982	Tibial bowing
OMIM:259420	SERPINH1	871	HP:0002650	Scoliosis
OMIM:259420	SERPINH1	871	HP:0000007	Autosomal recessive inheritance
OMIM:259420	SERPINH1	871	HP:0002808	Kyphosis
OMIM:259420	SERPINH1	871	HP:0000765	Abnormality of the thorax
OMIM:259420	SERPINH1	871	HP:0003100	Slender long bone
OMIM:259420	SERPINH1	871	HP:0000707	Abnormality of the nervous system
OMIM:259420	SERPINF1	5176	HP:0000592	Blue sclerae
OMIM:259420	SERPINF1	5176	HP:0000347	Micrognathia
OMIM:259420	SERPINF1	5176	HP:0000365	Hearing impairment
OMIM:259420	SERPINF1	5176	HP:0002645	Wormian bones
OMIM:259420	SERPINF1	5176	HP:0002757	Recurrent fractures
OMIM:259420	SERPINF1	5176	HP:0000006	Autosomal dominant inheritance
OMIM:259420	SERPINF1	5176	HP:0000325	Triangular face
OMIM:259420	SERPINF1	5176	HP:0002007	Frontal bossing
OMIM:259420	SERPINF1	5176	HP:0002982	Tibial bowing
OMIM:259420	SERPINF1	5176	HP:0002650	Scoliosis
OMIM:259420	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:259420	SERPINF1	5176	HP:0002808	Kyphosis
OMIM:259420	SERPINF1	5176	HP:0000765	Abnormality of the thorax
OMIM:259420	SERPINF1	5176	HP:0003100	Slender long bone
OMIM:259420	SERPINF1	5176	HP:0000707	Abnormality of the nervous system
OMIM:259420	FKBP10	60681	HP:0000592	Blue sclerae
OMIM:259420	FKBP10	60681	HP:0000347	Micrognathia
OMIM:259420	FKBP10	60681	HP:0000365	Hearing impairment
OMIM:259420	FKBP10	60681	HP:0002645	Wormian bones
OMIM:259420	FKBP10	60681	HP:0002757	Recurrent fractures
OMIM:259420	FKBP10	60681	HP:0000006	Autosomal dominant inheritance
OMIM:259420	FKBP10	60681	HP:0000325	Triangular face
OMIM:259420	FKBP10	60681	HP:0002007	Frontal bossing
OMIM:259420	FKBP10	60681	HP:0002982	Tibial bowing
OMIM:259420	FKBP10	60681	HP:0002650	Scoliosis
OMIM:259420	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:259420	FKBP10	60681	HP:0002808	Kyphosis
OMIM:259420	FKBP10	60681	HP:0000765	Abnormality of the thorax
OMIM:259420	FKBP10	60681	HP:0003100	Slender long bone
OMIM:259420	FKBP10	60681	HP:0000707	Abnormality of the nervous system
OMIM:259420	BMP1	649	HP:0000592	Blue sclerae
OMIM:259420	BMP1	649	HP:0000347	Micrognathia
OMIM:259420	BMP1	649	HP:0000365	Hearing impairment
OMIM:259420	BMP1	649	HP:0002645	Wormian bones
OMIM:259420	BMP1	649	HP:0002757	Recurrent fractures
OMIM:259420	BMP1	649	HP:0000006	Autosomal dominant inheritance
OMIM:259420	BMP1	649	HP:0000325	Triangular face
OMIM:259420	BMP1	649	HP:0002007	Frontal bossing
OMIM:259420	BMP1	649	HP:0002982	Tibial bowing
OMIM:259420	BMP1	649	HP:0002650	Scoliosis
OMIM:259420	BMP1	649	HP:0000007	Autosomal recessive inheritance
OMIM:259420	BMP1	649	HP:0002808	Kyphosis
OMIM:259420	BMP1	649	HP:0000765	Abnormality of the thorax
OMIM:259420	BMP1	649	HP:0003100	Slender long bone
OMIM:259420	BMP1	649	HP:0000707	Abnormality of the nervous system
OMIM:259420	CRTAP	10491	HP:0000592	Blue sclerae
OMIM:259420	CRTAP	10491	HP:0000347	Micrognathia
OMIM:259420	CRTAP	10491	HP:0000365	Hearing impairment
OMIM:259420	CRTAP	10491	HP:0002645	Wormian bones
OMIM:259420	CRTAP	10491	HP:0002757	Recurrent fractures
OMIM:259420	CRTAP	10491	HP:0000006	Autosomal dominant inheritance
OMIM:259420	CRTAP	10491	HP:0000325	Triangular face
OMIM:259420	CRTAP	10491	HP:0002007	Frontal bossing
OMIM:259420	CRTAP	10491	HP:0002982	Tibial bowing
OMIM:259420	CRTAP	10491	HP:0002650	Scoliosis
OMIM:259420	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:259420	CRTAP	10491	HP:0002808	Kyphosis
OMIM:259420	CRTAP	10491	HP:0000765	Abnormality of the thorax
OMIM:259420	CRTAP	10491	HP:0003100	Slender long bone
OMIM:259420	CRTAP	10491	HP:0000707	Abnormality of the nervous system
OMIM:259420	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:259420	COL1A1	1277	HP:0000347	Micrognathia
OMIM:259420	COL1A1	1277	HP:0000365	Hearing impairment
OMIM:259420	COL1A1	1277	HP:0002645	Wormian bones
OMIM:259420	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:259420	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:259420	COL1A1	1277	HP:0000325	Triangular face
OMIM:259420	COL1A1	1277	HP:0002007	Frontal bossing
OMIM:259420	COL1A1	1277	HP:0002982	Tibial bowing
OMIM:259420	COL1A1	1277	HP:0002650	Scoliosis
OMIM:259420	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:259420	COL1A1	1277	HP:0002808	Kyphosis
OMIM:259420	COL1A1	1277	HP:0000765	Abnormality of the thorax
OMIM:259420	COL1A1	1277	HP:0003100	Slender long bone
OMIM:259420	COL1A1	1277	HP:0000707	Abnormality of the nervous system
OMIM:259420	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:259420	COL1A2	1278	HP:0000347	Micrognathia
OMIM:259420	COL1A2	1278	HP:0000365	Hearing impairment
OMIM:259420	COL1A2	1278	HP:0002645	Wormian bones
OMIM:259420	COL1A2	1278	HP:0002757	Recurrent fractures
OMIM:259420	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
OMIM:259420	COL1A2	1278	HP:0000325	Triangular face
OMIM:259420	COL1A2	1278	HP:0002007	Frontal bossing
OMIM:259420	COL1A2	1278	HP:0002982	Tibial bowing
OMIM:259420	COL1A2	1278	HP:0002650	Scoliosis
OMIM:259420	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:259420	COL1A2	1278	HP:0002808	Kyphosis
OMIM:259420	COL1A2	1278	HP:0000765	Abnormality of the thorax
OMIM:259420	COL1A2	1278	HP:0003100	Slender long bone
OMIM:259420	COL1A2	1278	HP:0000707	Abnormality of the nervous system
OMIM:259420	P3H1	64175	HP:0000592	Blue sclerae
OMIM:259420	P3H1	64175	HP:0000347	Micrognathia
OMIM:259420	P3H1	64175	HP:0000365	Hearing impairment
OMIM:259420	P3H1	64175	HP:0002645	Wormian bones
OMIM:259420	P3H1	64175	HP:0002757	Recurrent fractures
OMIM:259420	P3H1	64175	HP:0000006	Autosomal dominant inheritance
OMIM:259420	P3H1	64175	HP:0000325	Triangular face
OMIM:259420	P3H1	64175	HP:0002007	Frontal bossing
OMIM:259420	P3H1	64175	HP:0002982	Tibial bowing
OMIM:259420	P3H1	64175	HP:0002650	Scoliosis
OMIM:259420	P3H1	64175	HP:0000007	Autosomal recessive inheritance
OMIM:259420	P3H1	64175	HP:0002808	Kyphosis
OMIM:259420	P3H1	64175	HP:0000765	Abnormality of the thorax
OMIM:259420	P3H1	64175	HP:0003100	Slender long bone
OMIM:259420	P3H1	64175	HP:0000707	Abnormality of the nervous system
OMIM:259420	WNT1	7471	HP:0000592	Blue sclerae
OMIM:259420	WNT1	7471	HP:0000347	Micrognathia
OMIM:259420	WNT1	7471	HP:0000365	Hearing impairment
OMIM:259420	WNT1	7471	HP:0002645	Wormian bones
OMIM:259420	WNT1	7471	HP:0002757	Recurrent fractures
OMIM:259420	WNT1	7471	HP:0000006	Autosomal dominant inheritance
OMIM:259420	WNT1	7471	HP:0000325	Triangular face
OMIM:259420	WNT1	7471	HP:0002007	Frontal bossing
OMIM:259420	WNT1	7471	HP:0002982	Tibial bowing
OMIM:259420	WNT1	7471	HP:0002650	Scoliosis
OMIM:259420	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:259420	WNT1	7471	HP:0002808	Kyphosis
OMIM:259420	WNT1	7471	HP:0000765	Abnormality of the thorax
OMIM:259420	WNT1	7471	HP:0003100	Slender long bone
OMIM:259420	WNT1	7471	HP:0000707	Abnormality of the nervous system
ORPHANET:164736	PER2	8864	HP:0004295	Abnormality of the gastric mucosa
ORPHANET:164736	PER2	8864	HP:0002019	Constipation
ORPHANET:164736	PER2	8864	HP:0002027	Abdominal pain
ORPHANET:164736	PER2	8864	HP:0002076	Migraine
ORPHANET:164736	PER2	8864	HP:0002360	Sleep disturbance
ORPHANET:164736	CSNK1D	1453	HP:0004295	Abnormality of the gastric mucosa
ORPHANET:164736	CSNK1D	1453	HP:0002019	Constipation
ORPHANET:164736	CSNK1D	1453	HP:0002027	Abdominal pain
ORPHANET:164736	CSNK1D	1453	HP:0002076	Migraine
ORPHANET:164736	CSNK1D	1453	HP:0002360	Sleep disturbance
OMIM:240600	GYS2	2998	HP:0001946	Ketosis
OMIM:240600	GYS2	2998	HP:0001250	Seizures
OMIM:240600	GYS2	2998	HP:0002151	Increased serum lactate
OMIM:240600	GYS2	2998	HP:0000007	Autosomal recessive inheritance
OMIM:607091	B4GALT1	2683	HP:0000256	Macrocephaly
OMIM:607091	B4GALT1	2683	HP:0001305	Dandy-Walker malformation
OMIM:607091	B4GALT1	2683	HP:0001252	Muscular hypotonia
OMIM:607091	B4GALT1	2683	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607091	B4GALT1	2683	HP:0001928	Abnormality of coagulation
OMIM:607091	B4GALT1	2683	HP:0000238	Hydrocephalus
OMIM:607091	B4GALT1	2683	HP:0003198	Myopathy
OMIM:607091	B4GALT1	2683	HP:0001263	Global developmental delay
OMIM:607091	B4GALT1	2683	HP:0000007	Autosomal recessive inheritance
OMIM:272800	HEXA	3073	HP:0003593	Infantile onset
OMIM:272800	HEXA	3073	HP:0100022	Abnormality of movement
OMIM:272800	HEXA	3073	HP:0002267	Exaggerated startle response
OMIM:272800	HEXA	3073	HP:0000256	Macrocephaly
OMIM:272800	HEXA	3073	HP:0002205	Recurrent respiratory infections
OMIM:272800	HEXA	3073	HP:0001252	Muscular hypotonia
OMIM:272800	HEXA	3073	HP:0001276	Hypertonia
OMIM:272800	HEXA	3073	HP:0001347	Hyperreflexia
OMIM:272800	HEXA	3073	HP:0000618	Blindness
OMIM:272800	HEXA	3073	HP:0000741	Apathy
OMIM:272800	HEXA	3073	HP:0001103	Abnormality of the macula
OMIM:272800	HEXA	3073	HP:0002421	Poor head control
OMIM:272800	HEXA	3073	HP:0002240	Hepatomegaly
OMIM:272800	HEXA	3073	HP:0004374	Hemiplegia/hemiparesis
OMIM:272800	HEXA	3073	HP:0002353	EEG abnormality
OMIM:272800	HEXA	3073	HP:0000648	Optic atrophy
OMIM:272800	HEXA	3073	HP:0000007	Autosomal recessive inheritance
OMIM:272800	HEXA	3073	HP:0001250	Seizures
OMIM:272800	HEXA	3073	HP:0001744	Splenomegaly
OMIM:272800	HEXA	3073	HP:0002311	Incoordination
OMIM:272800	HEXA	3073	HP:0002376	Developmental regression
OMIM:272800	HEXA	3073	HP:0000726	Dementia
OMIM:272800	HEXA	3073	HP:0000365	Hearing impairment
OMIM:613955	IL31RA	133396	HP:0000006	Autosomal dominant inheritance
OMIM:613955	IL31RA	133396	HP:0000989	Pruritus
OMIM:613955	OSMR	9180	HP:0000006	Autosomal dominant inheritance
OMIM:613955	OSMR	9180	HP:0000989	Pruritus
OMIM:129500	GJB6	10804	HP:0001806	Onycholysis
OMIM:129500	GJB6	10804	HP:0006101	Finger syndactyly
OMIM:129500	GJB6	10804	HP:0000509	Conjunctivitis
OMIM:129500	GJB6	10804	HP:0002213	Fine hair
OMIM:129500	GJB6	10804	HP:0000518	Cataract
OMIM:129500	GJB6	10804	HP:0100760	Clubbing of toes
OMIM:129500	GJB6	10804	HP:0001596	Alopecia
OMIM:129500	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:129500	GJB6	10804	HP:0000535	Sparse eyebrow
OMIM:129500	GJB6	10804	HP:0000653	Sparse eyelashes
OMIM:129500	GJB6	10804	HP:0004493	Craniofacial hyperostosis
OMIM:129500	GJB6	10804	HP:0002164	Nail dysplasia
OMIM:129500	GJB6	10804	HP:0000998	Hypertrichosis
OMIM:129500	GJB6	10804	HP:0004322	Short stature
OMIM:129500	GJB6	10804	HP:0007440	Generalized hyperpigmentation
OMIM:129500	GJB6	10804	HP:0000613	Photophobia
OMIM:129500	GJB6	10804	HP:0000953	Hyperpigmentation of the skin
OMIM:129500	GJB6	10804	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:129500	GJB6	10804	HP:0008404	Nail dystrophy
OMIM:129500	GJB6	10804	HP:0200042	Skin ulcer
OMIM:129500	GJB6	10804	HP:0000164	Abnormality of the teeth
OMIM:129500	GJB6	10804	HP:0000486	Strabismus
OMIM:129500	GJB6	10804	HP:0000498	Blepharitis
OMIM:129500	GJB6	10804	HP:0007400	Irregular hyperpigmentation
OMIM:129500	GJB6	10804	HP:0003828	Variable expressivity
OMIM:129500	GJB6	10804	HP:0001231	Abnormality of the fingernails
OMIM:129500	GJB6	10804	HP:0000632	Lacrimation abnormality
OMIM:129500	GJB6	10804	HP:0001161	Hand polydactyly
OMIM:129500	GJB6	10804	HP:0001792	Small nail
OMIM:129500	GJB6	10804	HP:0002217	Slow-growing hair
OMIM:129500	GJB6	10804	HP:0000982	Palmoplantar keratoderma
OMIM:129500	GJB6	10804	HP:0100543	Cognitive impairment
OMIM:129500	GJB6	10804	HP:0000968	Ectodermal dysplasia
OMIM:129500	GJB6	10804	HP:0002299	Brittle hair
OMIM:261740	PRKAG2	51422	HP:0000961	Cyanosis
OMIM:261740	PRKAG2	51422	HP:0001635	Congestive heart failure
OMIM:261740	PRKAG2	51422	HP:0001541	Ascites
OMIM:261740	PRKAG2	51422	HP:0001640	Cardiomegaly
OMIM:261740	PRKAG2	51422	HP:0000158	Macroglossia
OMIM:261740	PRKAG2	51422	HP:0001250	Seizures
OMIM:261740	PRKAG2	51422	HP:0000007	Autosomal recessive inheritance
ORPHANET:805	TSC1	7248	HP:0000230	Gingivitis
ORPHANET:805	TSC1	7248	HP:0002353	EEG abnormality
ORPHANET:805	TSC1	7248	HP:0000826	Precocious puberty
ORPHANET:805	TSC1	7248	HP:0000612	Iris coloboma
ORPHANET:805	TSC1	7248	HP:0001250	Seizures
ORPHANET:805	TSC1	7248	HP:0001392	Abnormality of the liver
ORPHANET:805	TSC1	7248	HP:0000708	Behavioral abnormality
ORPHANET:805	TSC1	7248	HP:0009726	Renal neoplasm
ORPHANET:805	TSC1	7248	HP:0001034	Hypermelanotic macule
ORPHANET:805	TSC1	7248	HP:0000113	Polycystic kidney dysplasia
ORPHANET:805	TSC1	7248	HP:0100543	Cognitive impairment
ORPHANET:805	TSC1	7248	HP:0001053	Hypopigmented skin patches
ORPHANET:805	TSC1	7248	HP:0000648	Optic atrophy
ORPHANET:805	TSC1	7248	HP:0002097	Emphysema
ORPHANET:805	TSC1	7248	HP:0002617	Aneurysm
ORPHANET:805	TSC1	7248	HP:0004375	Neoplasm of the nervous system
ORPHANET:805	TSC1	7248	HP:0000682	Abnormality of dental enamel
ORPHANET:805	TSC1	7248	HP:0000269	Prominent occiput
ORPHANET:805	TSC1	7248	HP:0000957	Cafe-au-lait spot
ORPHANET:805	TSC1	7248	HP:0002514	Cerebral calcification
ORPHANET:805	TSC1	7248	HP:0011675	Arrhythmia
ORPHANET:805	TSC1	7248	HP:0001635	Congestive heart failure
ORPHANET:805	TSC1	7248	HP:0001732	Abnormality of the pancreas
ORPHANET:805	TSC1	7248	HP:0000083	Renal insufficiency
ORPHANET:805	TSC1	7248	HP:0000821	Hypothyroidism
ORPHANET:805	TSC1	7248	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:805	TSC1	7248	HP:0002093	Respiratory insufficiency
ORPHANET:805	TSC2	7249	HP:0000230	Gingivitis
ORPHANET:805	TSC2	7249	HP:0002353	EEG abnormality
ORPHANET:805	TSC2	7249	HP:0000826	Precocious puberty
ORPHANET:805	TSC2	7249	HP:0000612	Iris coloboma
ORPHANET:805	TSC2	7249	HP:0001250	Seizures
ORPHANET:805	TSC2	7249	HP:0001392	Abnormality of the liver
ORPHANET:805	TSC2	7249	HP:0000708	Behavioral abnormality
ORPHANET:805	TSC2	7249	HP:0009726	Renal neoplasm
ORPHANET:805	TSC2	7249	HP:0001034	Hypermelanotic macule
ORPHANET:805	TSC2	7249	HP:0000113	Polycystic kidney dysplasia
ORPHANET:805	TSC2	7249	HP:0100543	Cognitive impairment
ORPHANET:805	TSC2	7249	HP:0001053	Hypopigmented skin patches
ORPHANET:805	TSC2	7249	HP:0000648	Optic atrophy
ORPHANET:805	TSC2	7249	HP:0002097	Emphysema
ORPHANET:805	TSC2	7249	HP:0002617	Aneurysm
ORPHANET:805	TSC2	7249	HP:0004375	Neoplasm of the nervous system
ORPHANET:805	TSC2	7249	HP:0000682	Abnormality of dental enamel
ORPHANET:805	TSC2	7249	HP:0000269	Prominent occiput
ORPHANET:805	TSC2	7249	HP:0000957	Cafe-au-lait spot
ORPHANET:805	TSC2	7249	HP:0002514	Cerebral calcification
ORPHANET:805	TSC2	7249	HP:0011675	Arrhythmia
ORPHANET:805	TSC2	7249	HP:0001635	Congestive heart failure
ORPHANET:805	TSC2	7249	HP:0001732	Abnormality of the pancreas
ORPHANET:805	TSC2	7249	HP:0000083	Renal insufficiency
ORPHANET:805	TSC2	7249	HP:0000821	Hypothyroidism
ORPHANET:805	TSC2	7249	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:805	TSC2	7249	HP:0002093	Respiratory insufficiency
OMIM:600251	SPECC1L	23384	HP:0000175	Cleft palate
OMIM:600251	SPECC1L	23384	HP:0002006	Facial cleft
OMIM:600251	SPECC1L	23384	HP:0000204	Cleft upper lip
OMIM:600251	SPECC1L	23384	HP:0000007	Autosomal recessive inheritance
OMIM:600251	SPECC1L	23384	HP:0000589	Coloboma
OMIM:600251	SPECC1L	23384	HP:0000924	Abnormality of the skeletal system
OMIM:616509	CRYAA	1409	HP:0000519	Congenital cataract
OMIM:616509	CRYAA	1409	HP:0000572	Visual loss
OMIM:616509	EPHA2	1969	HP:0000519	Congenital cataract
OMIM:616509	EPHA2	1969	HP:0000572	Visual loss
OMIM:616509	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:616509	CRYBA2	1412	HP:0000572	Visual loss
OMIM:616509	AGK	55750	HP:0000519	Congenital cataract
OMIM:616509	AGK	55750	HP:0000572	Visual loss
OMIM:616509	CRYBB2	1415	HP:0000519	Congenital cataract
OMIM:616509	CRYBB2	1415	HP:0000572	Visual loss
OMIM:616509	NHS	4810	HP:0000519	Congenital cataract
OMIM:616509	NHS	4810	HP:0000572	Visual loss
OMIM:616509	CRYGB	1419	HP:0000519	Congenital cataract
OMIM:616509	CRYGB	1419	HP:0000572	Visual loss
OMIM:616509	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:616509	GCNT2	2651	HP:0000572	Visual loss
OMIM:616509	MIP	4284	HP:0000519	Congenital cataract
OMIM:616509	MIP	4284	HP:0000572	Visual loss
OMIM:616509	LSS	4047	HP:0000519	Congenital cataract
OMIM:616509	LSS	4047	HP:0000572	Visual loss
OMIM:611721	PSAP	5660	HP:0000648	Optic atrophy
OMIM:611721	PSAP	5660	HP:0003577	Congenital onset
OMIM:611721	PSAP	5660	HP:0002529	Neuronal loss in central nervous system
OMIM:611721	PSAP	5660	HP:0011968	Feeding difficulties
OMIM:611721	PSAP	5660	HP:0001250	Seizures
OMIM:611721	PSAP	5660	HP:0000007	Autosomal recessive inheritance
OMIM:611721	PSAP	5660	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611721	PSAP	5660	HP:0002240	Hepatomegaly
OMIM:611721	PSAP	5660	HP:0003487	Babinski sign
OMIM:611721	PSAP	5660	HP:0001744	Splenomegaly
OMIM:611721	PSAP	5660	HP:0001522	Death in infancy
OMIM:611721	PSAP	5660	HP:0002518	Abnormality of the periventricular white matter
OMIM:611721	PSAP	5660	HP:0001336	Myoclonus
OMIM:611721	PSAP	5660	HP:0002205	Recurrent respiratory infections
OMIM:611721	PSAP	5660	HP:0001252	Muscular hypotonia
OMIM:611721	PSAP	5660	HP:0007305	CNS demyelination
OMIM:611721	PSAP	5660	HP:0002380	Fasciculations
OMIM:611721	PSAP	5660	HP:0000496	Abnormality of eye movement
OMIM:611721	PSAP	5660	HP:0002093	Respiratory insufficiency
OMIM:611721	PSAP	5660	HP:0004305	Involuntary movements
ORPHANET:3412	FANCB	2187	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:3412	FANCB	2187	HP:0001622	Premature birth
ORPHANET:3412	FANCB	2187	HP:0002575	Tracheoesophageal fistula
ORPHANET:3412	FANCB	2187	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:3412	FANCB	2187	HP:0001511	Intrauterine growth retardation
ORPHANET:3412	FANCB	2187	HP:0000347	Micrognathia
ORPHANET:3412	FANCB	2187	HP:0004299	Hernia of the abdominal wall
ORPHANET:3412	FANCB	2187	HP:0002414	Spina bifida
ORPHANET:3412	FANCB	2187	HP:0003422	Vertebral segmentation defect
ORPHANET:3412	FANCB	2187	HP:0000008	Abnormality of female internal genitalia
ORPHANET:3412	FANCB	2187	HP:0001561	Polyhydramnios
ORPHANET:3412	FANCB	2187	HP:0000482	Microcornea
ORPHANET:3412	FANCB	2187	HP:0003272	Abnormality of the hip bone
ORPHANET:3412	FANCB	2187	HP:0001360	Holoprosencephaly
ORPHANET:3412	FANCB	2187	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:3412	FANCB	2187	HP:0000356	Abnormality of the outer ear
ORPHANET:3412	FANCB	2187	HP:0100589	Urogenital fistula
ORPHANET:3412	FANCB	2187	HP:0100543	Cognitive impairment
ORPHANET:3412	FANCB	2187	HP:0000648	Optic atrophy
ORPHANET:3412	FANCB	2187	HP:0000028	Cryptorchidism
ORPHANET:3412	FANCB	2187	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHANET:3412	FANCB	2187	HP:0000238	Hydrocephalus
OMIM:150400	IRF6	3664	HP:0000006	Autosomal dominant inheritance
OMIM:150400	EDARADD	128178	HP:0000006	Autosomal dominant inheritance
OMIM:150400	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:150400	LTBP3	4054	HP:0000006	Autosomal dominant inheritance
OMIM:150400	WNT10A	80326	HP:0000006	Autosomal dominant inheritance
OMIM:150400	MSX1	4487	HP:0000006	Autosomal dominant inheritance
OMIM:150400	EDA	1896	HP:0000006	Autosomal dominant inheritance
OMIM:150400	LRP6	4040	HP:0000006	Autosomal dominant inheritance
OMIM:150400	AXIN2	8313	HP:0000006	Autosomal dominant inheritance
OMIM:150400	PAX9	5083	HP:0000006	Autosomal dominant inheritance
OMIM:150400	TGFA	7039	HP:0000006	Autosomal dominant inheritance
OMIM:611867	BCR	613	HP:0000160	Narrow mouth
OMIM:611867	BCR	613	HP:0010296	Ankyloglossia
OMIM:611867	BCR	613	HP:0003307	Hyperlordosis
OMIM:611867	BCR	613	HP:0001263	Global developmental delay
OMIM:611867	BCR	613	HP:0000272	Malar flattening
OMIM:611867	BCR	613	HP:0000307	Pointed chin
OMIM:611867	BCR	613	HP:0000324	Facial asymmetry
OMIM:611867	BCR	613	HP:0008572	External ear malformation
OMIM:611867	BCR	613	HP:0000407	Sensorineural hearing impairment
OMIM:611867	BCR	613	HP:0004299	Hernia of the abdominal wall
OMIM:611867	BCR	613	HP:0001622	Premature birth
OMIM:611867	BCR	613	HP:0010624	Aplastic/hypoplastic toenail
OMIM:611867	BCR	613	HP:0001511	Intrauterine growth retardation
OMIM:611867	BCR	613	HP:0001629	Ventricular septal defect
OMIM:611867	BCR	613	HP:0001770	Toe syndactyly
OMIM:611867	BCR	613	HP:0000490	Deeply set eye
OMIM:611867	BCR	613	HP:0001250	Seizures
OMIM:611867	BCR	613	HP:0001660	Truncus arteriosus
OMIM:611867	BCR	613	HP:0009882	Short distal phalanx of finger
OMIM:611867	BCR	613	HP:0004322	Short stature
OMIM:611867	BCR	613	HP:0000453	Choanal atresia
OMIM:611867	BCR	613	HP:0000657	Oculomotor apraxia
OMIM:611867	BCR	613	HP:0000383	Abnormality of periauricular region
OMIM:611867	BCR	613	HP:0001156	Brachydactyly syndrome
OMIM:611867	BCR	613	HP:0000276	Long face
OMIM:611867	BCR	613	HP:0100490	Camptodactyly of finger
OMIM:611867	BCR	613	HP:0000319	Smooth philtrum
OMIM:611867	BCR	613	HP:0002205	Recurrent respiratory infections
OMIM:611867	BCR	613	HP:0000233	Thin vermilion border
OMIM:611867	BCR	613	HP:0000175	Cleft palate
OMIM:611867	BCR	613	HP:0001646	Abnormality of the aortic valve
OMIM:611867	BCR	613	HP:0001798	Anonychia
OMIM:611867	BCR	613	HP:0003272	Abnormality of the hip bone
OMIM:611867	BCR	613	HP:0002553	Highly arched eyebrow
OMIM:611867	BCR	613	HP:0000708	Behavioral abnormality
OMIM:611867	BCR	613	HP:0001631	Atria septal defect
OMIM:611867	BCR	613	HP:0100543	Cognitive impairment
OMIM:611867	BCR	613	HP:0000430	Underdeveloped nasal alae
OMIM:611867	BCR	613	HP:0001382	Joint hypermobility
OMIM:611867	BCR	613	HP:0005111	Dilatation of the ascending aorta
OMIM:611867	BCR	613	HP:0000288	Abnormality of the philtrum
OMIM:611867	BCR	613	HP:0006487	Bowing of the long bones
OMIM:611867	BCR	613	HP:0000219	Thin upper lip vermilion
OMIM:611867	BCR	613	HP:0000252	Microcephaly
OMIM:611867	BCR	613	HP:0009465	Ulnar deviation of finger
OMIM:611867	BCR	613	HP:0004209	Clinodactyly of the 5th finger
OMIM:611867	BCR	613	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:611867	BCR	613	HP:0002167	Neurological speech impairment
OMIM:611867	BCR	613	HP:0000733	Stereotypic behavior
OMIM:611867	BCR	613	HP:0002607	Bowel incontinence
OMIM:611867	BCR	613	HP:0004375	Neoplasm of the nervous system
OMIM:611867	BCR	613	HP:0001852	Sandal gap
OMIM:611867	BCR	613	HP:0002021	Pyloric stenosis
OMIM:611867	BCR	613	HP:0000010	Recurrent urinary tract infections
OMIM:611867	BCR	613	HP:0000581	Blepharophimosis
OMIM:611867	BCR	613	HP:0000426	Prominent nasal bridge
OMIM:611867	BCR	613	HP:0000722	Obsessive-compulsive behavior
OMIM:611867	BCR	613	HP:0001166	Arachnodactyly
OMIM:611867	BCR	613	HP:0001763	Pes planus
OMIM:611867	BCR	613	HP:0007018	Attention deficit hyperactivity disorder
OMIM:611867	CRKL	1399	HP:0000160	Narrow mouth
OMIM:611867	CRKL	1399	HP:0010296	Ankyloglossia
OMIM:611867	CRKL	1399	HP:0003307	Hyperlordosis
OMIM:611867	CRKL	1399	HP:0001263	Global developmental delay
OMIM:611867	CRKL	1399	HP:0000272	Malar flattening
OMIM:611867	CRKL	1399	HP:0000307	Pointed chin
OMIM:611867	CRKL	1399	HP:0000324	Facial asymmetry
OMIM:611867	CRKL	1399	HP:0008572	External ear malformation
OMIM:611867	CRKL	1399	HP:0000407	Sensorineural hearing impairment
OMIM:611867	CRKL	1399	HP:0004299	Hernia of the abdominal wall
OMIM:611867	CRKL	1399	HP:0001622	Premature birth
OMIM:611867	CRKL	1399	HP:0010624	Aplastic/hypoplastic toenail
OMIM:611867	CRKL	1399	HP:0001511	Intrauterine growth retardation
OMIM:611867	CRKL	1399	HP:0001629	Ventricular septal defect
OMIM:611867	CRKL	1399	HP:0001770	Toe syndactyly
OMIM:611867	CRKL	1399	HP:0000490	Deeply set eye
OMIM:611867	CRKL	1399	HP:0001250	Seizures
OMIM:611867	CRKL	1399	HP:0001660	Truncus arteriosus
OMIM:611867	CRKL	1399	HP:0009882	Short distal phalanx of finger
OMIM:611867	CRKL	1399	HP:0004322	Short stature
OMIM:611867	CRKL	1399	HP:0000453	Choanal atresia
OMIM:611867	CRKL	1399	HP:0000657	Oculomotor apraxia
OMIM:611867	CRKL	1399	HP:0000383	Abnormality of periauricular region
OMIM:611867	CRKL	1399	HP:0001156	Brachydactyly syndrome
OMIM:611867	CRKL	1399	HP:0000276	Long face
OMIM:611867	CRKL	1399	HP:0100490	Camptodactyly of finger
OMIM:611867	CRKL	1399	HP:0000319	Smooth philtrum
OMIM:611867	CRKL	1399	HP:0002205	Recurrent respiratory infections
OMIM:611867	CRKL	1399	HP:0000233	Thin vermilion border
OMIM:611867	CRKL	1399	HP:0000175	Cleft palate
OMIM:611867	CRKL	1399	HP:0001646	Abnormality of the aortic valve
OMIM:611867	CRKL	1399	HP:0001798	Anonychia
OMIM:611867	CRKL	1399	HP:0003272	Abnormality of the hip bone
OMIM:611867	CRKL	1399	HP:0002553	Highly arched eyebrow
OMIM:611867	CRKL	1399	HP:0000708	Behavioral abnormality
OMIM:611867	CRKL	1399	HP:0001631	Atria septal defect
OMIM:611867	CRKL	1399	HP:0100543	Cognitive impairment
OMIM:611867	CRKL	1399	HP:0000430	Underdeveloped nasal alae
OMIM:611867	CRKL	1399	HP:0001382	Joint hypermobility
OMIM:611867	CRKL	1399	HP:0005111	Dilatation of the ascending aorta
OMIM:611867	CRKL	1399	HP:0000288	Abnormality of the philtrum
OMIM:611867	CRKL	1399	HP:0006487	Bowing of the long bones
OMIM:611867	CRKL	1399	HP:0000219	Thin upper lip vermilion
OMIM:611867	CRKL	1399	HP:0000252	Microcephaly
OMIM:611867	CRKL	1399	HP:0009465	Ulnar deviation of finger
OMIM:611867	CRKL	1399	HP:0004209	Clinodactyly of the 5th finger
OMIM:611867	CRKL	1399	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:611867	CRKL	1399	HP:0002167	Neurological speech impairment
OMIM:611867	CRKL	1399	HP:0000733	Stereotypic behavior
OMIM:611867	CRKL	1399	HP:0002607	Bowel incontinence
OMIM:611867	CRKL	1399	HP:0004375	Neoplasm of the nervous system
OMIM:611867	CRKL	1399	HP:0001852	Sandal gap
OMIM:611867	CRKL	1399	HP:0002021	Pyloric stenosis
OMIM:611867	CRKL	1399	HP:0000010	Recurrent urinary tract infections
OMIM:611867	CRKL	1399	HP:0000581	Blepharophimosis
OMIM:611867	CRKL	1399	HP:0000426	Prominent nasal bridge
OMIM:611867	CRKL	1399	HP:0000722	Obsessive-compulsive behavior
OMIM:611867	CRKL	1399	HP:0001166	Arachnodactyly
OMIM:611867	CRKL	1399	HP:0001763	Pes planus
OMIM:611867	CRKL	1399	HP:0007018	Attention deficit hyperactivity disorder
OMIM:611867	MAPK1	5594	HP:0000160	Narrow mouth
OMIM:611867	MAPK1	5594	HP:0010296	Ankyloglossia
OMIM:611867	MAPK1	5594	HP:0003307	Hyperlordosis
OMIM:611867	MAPK1	5594	HP:0001263	Global developmental delay
OMIM:611867	MAPK1	5594	HP:0000272	Malar flattening
OMIM:611867	MAPK1	5594	HP:0000307	Pointed chin
OMIM:611867	MAPK1	5594	HP:0000324	Facial asymmetry
OMIM:611867	MAPK1	5594	HP:0008572	External ear malformation
OMIM:611867	MAPK1	5594	HP:0000407	Sensorineural hearing impairment
OMIM:611867	MAPK1	5594	HP:0004299	Hernia of the abdominal wall
OMIM:611867	MAPK1	5594	HP:0001622	Premature birth
OMIM:611867	MAPK1	5594	HP:0010624	Aplastic/hypoplastic toenail
OMIM:611867	MAPK1	5594	HP:0001511	Intrauterine growth retardation
OMIM:611867	MAPK1	5594	HP:0001629	Ventricular septal defect
OMIM:611867	MAPK1	5594	HP:0001770	Toe syndactyly
OMIM:611867	MAPK1	5594	HP:0000490	Deeply set eye
OMIM:611867	MAPK1	5594	HP:0001250	Seizures
OMIM:611867	MAPK1	5594	HP:0001660	Truncus arteriosus
OMIM:611867	MAPK1	5594	HP:0009882	Short distal phalanx of finger
OMIM:611867	MAPK1	5594	HP:0004322	Short stature
OMIM:611867	MAPK1	5594	HP:0000453	Choanal atresia
OMIM:611867	MAPK1	5594	HP:0000657	Oculomotor apraxia
OMIM:611867	MAPK1	5594	HP:0000383	Abnormality of periauricular region
OMIM:611867	MAPK1	5594	HP:0001156	Brachydactyly syndrome
OMIM:611867	MAPK1	5594	HP:0000276	Long face
OMIM:611867	MAPK1	5594	HP:0100490	Camptodactyly of finger
OMIM:611867	MAPK1	5594	HP:0000319	Smooth philtrum
OMIM:611867	MAPK1	5594	HP:0002205	Recurrent respiratory infections
OMIM:611867	MAPK1	5594	HP:0000233	Thin vermilion border
OMIM:611867	MAPK1	5594	HP:0000175	Cleft palate
OMIM:611867	MAPK1	5594	HP:0001646	Abnormality of the aortic valve
OMIM:611867	MAPK1	5594	HP:0001798	Anonychia
OMIM:611867	MAPK1	5594	HP:0003272	Abnormality of the hip bone
OMIM:611867	MAPK1	5594	HP:0002553	Highly arched eyebrow
OMIM:611867	MAPK1	5594	HP:0000708	Behavioral abnormality
OMIM:611867	MAPK1	5594	HP:0001631	Atria septal defect
OMIM:611867	MAPK1	5594	HP:0100543	Cognitive impairment
OMIM:611867	MAPK1	5594	HP:0000430	Underdeveloped nasal alae
OMIM:611867	MAPK1	5594	HP:0001382	Joint hypermobility
OMIM:611867	MAPK1	5594	HP:0005111	Dilatation of the ascending aorta
OMIM:611867	MAPK1	5594	HP:0000288	Abnormality of the philtrum
OMIM:611867	MAPK1	5594	HP:0006487	Bowing of the long bones
OMIM:611867	MAPK1	5594	HP:0000219	Thin upper lip vermilion
OMIM:611867	MAPK1	5594	HP:0000252	Microcephaly
OMIM:611867	MAPK1	5594	HP:0009465	Ulnar deviation of finger
OMIM:611867	MAPK1	5594	HP:0004209	Clinodactyly of the 5th finger
OMIM:611867	MAPK1	5594	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:611867	MAPK1	5594	HP:0002167	Neurological speech impairment
OMIM:611867	MAPK1	5594	HP:0000733	Stereotypic behavior
OMIM:611867	MAPK1	5594	HP:0002607	Bowel incontinence
OMIM:611867	MAPK1	5594	HP:0004375	Neoplasm of the nervous system
OMIM:611867	MAPK1	5594	HP:0001852	Sandal gap
OMIM:611867	MAPK1	5594	HP:0002021	Pyloric stenosis
OMIM:611867	MAPK1	5594	HP:0000010	Recurrent urinary tract infections
OMIM:611867	MAPK1	5594	HP:0000581	Blepharophimosis
OMIM:611867	MAPK1	5594	HP:0000426	Prominent nasal bridge
OMIM:611867	MAPK1	5594	HP:0000722	Obsessive-compulsive behavior
OMIM:611867	MAPK1	5594	HP:0001166	Arachnodactyly
OMIM:611867	MAPK1	5594	HP:0001763	Pes planus
OMIM:611867	MAPK1	5594	HP:0007018	Attention deficit hyperactivity disorder
OMIM:608688	ATIC	471	HP:0000248	Brachycephaly
OMIM:608688	ATIC	471	HP:0000463	Anteverted nares
OMIM:608688	ATIC	471	HP:0002187	Intellectual disability, profound
OMIM:608688	ATIC	471	HP:0011220	Prominent forehead
OMIM:608688	ATIC	471	HP:0000219	Thin upper lip vermilion
OMIM:608688	ATIC	471	HP:0001252	Muscular hypotonia
OMIM:608688	ATIC	471	HP:0000063	Fused labia minora
OMIM:608688	ATIC	471	HP:0000007	Autosomal recessive inheritance
OMIM:608688	ATIC	471	HP:0000648	Optic atrophy
OMIM:608688	ATIC	471	HP:0001631	Atria septal defect
OMIM:608688	ATIC	471	HP:0000154	Wide mouth
OMIM:608688	ATIC	471	HP:0000369	Low-set ears
OMIM:608688	ATIC	471	HP:0001250	Seizures
OMIM:608688	ATIC	471	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:608688	ATIC	471	HP:0000951	Abnormality of the skin
OMIM:608688	ATIC	471	HP:0000426	Prominent nasal bridge
OMIM:608688	ATIC	471	HP:0000057	Clitoromegaly
OMIM:608688	ATIC	471	HP:0007875	Congenital blindness
OMIM:608688	ATIC	471	HP:0002007	Frontal bossing
OMIM:616373	FAM13A	10144	HP:0002206	Pulmonary fibrosis
OMIM:616373	TERC	7012	HP:0002206	Pulmonary fibrosis
OMIM:616373	RTEL1	51750	HP:0002206	Pulmonary fibrosis
OMIM:616373	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:616373	SFTPC	6440	HP:0002206	Pulmonary fibrosis
OMIM:616373	DSP	1832	HP:0002206	Pulmonary fibrosis
OMIM:616373	SFTPA1	653509	HP:0002206	Pulmonary fibrosis
OMIM:616373	PARN	5073	HP:0002206	Pulmonary fibrosis
OMIM:616373	MUC5B	727897	HP:0002206	Pulmonary fibrosis
OMIM:616373	ATP11A	23250	HP:0002206	Pulmonary fibrosis
OMIM:616373	OBFC1	79991	HP:0002206	Pulmonary fibrosis
OMIM:616373	SFTPA2	729238	HP:0002206	Pulmonary fibrosis
OMIM:616373	DPP9	91039	HP:0002206	Pulmonary fibrosis
OMIM:616229	CREB3L1	90993	HP:0000365	Hearing impairment
OMIM:616229	CREB3L1	90993	HP:0001518	Small for gestational age
OMIM:616229	CREB3L1	90993	HP:0000923	Beaded ribs
OMIM:616229	PPIB	5479	HP:0000365	Hearing impairment
OMIM:616229	PPIB	5479	HP:0001518	Small for gestational age
OMIM:616229	PPIB	5479	HP:0000923	Beaded ribs
OMIM:616229	SERPINH1	871	HP:0000365	Hearing impairment
OMIM:616229	SERPINH1	871	HP:0001518	Small for gestational age
OMIM:616229	SERPINH1	871	HP:0000923	Beaded ribs
OMIM:616229	SERPINF1	5176	HP:0000365	Hearing impairment
OMIM:616229	SERPINF1	5176	HP:0001518	Small for gestational age
OMIM:616229	SERPINF1	5176	HP:0000923	Beaded ribs
OMIM:616229	FKBP10	60681	HP:0000365	Hearing impairment
OMIM:616229	FKBP10	60681	HP:0001518	Small for gestational age
OMIM:616229	FKBP10	60681	HP:0000923	Beaded ribs
OMIM:616229	BMP1	649	HP:0000365	Hearing impairment
OMIM:616229	BMP1	649	HP:0001518	Small for gestational age
OMIM:616229	BMP1	649	HP:0000923	Beaded ribs
OMIM:616229	CRTAP	10491	HP:0000365	Hearing impairment
OMIM:616229	CRTAP	10491	HP:0001518	Small for gestational age
OMIM:616229	CRTAP	10491	HP:0000923	Beaded ribs
OMIM:616229	COL1A1	1277	HP:0000365	Hearing impairment
OMIM:616229	COL1A1	1277	HP:0001518	Small for gestational age
OMIM:616229	COL1A1	1277	HP:0000923	Beaded ribs
OMIM:616229	COL1A2	1278	HP:0000365	Hearing impairment
OMIM:616229	COL1A2	1278	HP:0001518	Small for gestational age
OMIM:616229	COL1A2	1278	HP:0000923	Beaded ribs
OMIM:616229	P3H1	64175	HP:0000365	Hearing impairment
OMIM:616229	P3H1	64175	HP:0001518	Small for gestational age
OMIM:616229	P3H1	64175	HP:0000923	Beaded ribs
OMIM:616229	WNT1	7471	HP:0000365	Hearing impairment
OMIM:616229	WNT1	7471	HP:0001518	Small for gestational age
OMIM:616229	WNT1	7471	HP:0000923	Beaded ribs
ORPHANET:906	WIPF1	7456	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:906	WIPF1	7456	HP:0001287	Meningitis
ORPHANET:906	WIPF1	7456	HP:0002205	Recurrent respiratory infections
ORPHANET:906	WIPF1	7456	HP:0004370	Abnormality of temperature regulation
ORPHANET:906	WIPF1	7456	HP:0100543	Cognitive impairment
ORPHANET:906	WIPF1	7456	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:906	WIPF1	7456	HP:0002665	Lymphoma
ORPHANET:906	WIPF1	7456	HP:0001645	Sudden cardiac death
ORPHANET:906	WIPF1	7456	HP:0002633	Vasculitis
ORPHANET:906	WIPF1	7456	HP:0100806	Sepsis
ORPHANET:906	WIPF1	7456	HP:0000225	Gingival bleeding
ORPHANET:906	WIPF1	7456	HP:0001909	Leukemia
ORPHANET:906	WIPF1	7456	HP:0001874	Abnormality of neutrophils
ORPHANET:906	WIPF1	7456	HP:0002960	Autoimmunity
ORPHANET:906	WIPF1	7456	HP:0000112	Nephropathy
ORPHANET:906	WIPF1	7456	HP:0200042	Skin ulcer
ORPHANET:906	WIPF1	7456	HP:0002204	Pulmonary embolism
ORPHANET:906	WIPF1	7456	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:906	WIPF1	7456	HP:0100774	Hyperostosis
ORPHANET:906	WIPF1	7456	HP:0000246	Sinusitis
ORPHANET:906	WIPF1	7456	HP:0002170	Intracranial hemorrhage
ORPHANET:906	WIPF1	7456	HP:0001878	Hemolytic anemia
ORPHANET:906	WIPF1	7456	HP:0002037	Inflammation of the large intestine
ORPHANET:906	WIPF1	7456	HP:0001873	Thrombocytopenia
ORPHANET:906	WIPF1	7456	HP:0001928	Abnormality of coagulation
ORPHANET:906	WIPF1	7456	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:906	WIPF1	7456	HP:0000388	Otitis media
ORPHANET:906	WIPF1	7456	HP:0001025	Urticaria
ORPHANET:906	WIPF1	7456	HP:0100749	Chest pain
ORPHANET:906	WIPF1	7456	HP:0002383	Encephalitis
ORPHANET:906	WIPF1	7456	HP:0000978	Bruising susceptibility
ORPHANET:906	WIPF1	7456	HP:0002093	Respiratory insufficiency
ORPHANET:906	WIPF1	7456	HP:0001369	Arthritis
ORPHANET:906	WIPF1	7456	HP:0000421	Epistaxis
ORPHANET:906	WIPF1	7456	HP:0009830	Peripheral neuropathy
ORPHANET:906	WAS	7454	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:906	WAS	7454	HP:0001287	Meningitis
ORPHANET:906	WAS	7454	HP:0002205	Recurrent respiratory infections
ORPHANET:906	WAS	7454	HP:0004370	Abnormality of temperature regulation
ORPHANET:906	WAS	7454	HP:0100543	Cognitive impairment
ORPHANET:906	WAS	7454	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:906	WAS	7454	HP:0002665	Lymphoma
ORPHANET:906	WAS	7454	HP:0001645	Sudden cardiac death
ORPHANET:906	WAS	7454	HP:0002633	Vasculitis
ORPHANET:906	WAS	7454	HP:0100806	Sepsis
ORPHANET:906	WAS	7454	HP:0000225	Gingival bleeding
ORPHANET:906	WAS	7454	HP:0001909	Leukemia
ORPHANET:906	WAS	7454	HP:0001874	Abnormality of neutrophils
ORPHANET:906	WAS	7454	HP:0002960	Autoimmunity
ORPHANET:906	WAS	7454	HP:0000112	Nephropathy
ORPHANET:906	WAS	7454	HP:0200042	Skin ulcer
ORPHANET:906	WAS	7454	HP:0002204	Pulmonary embolism
ORPHANET:906	WAS	7454	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:906	WAS	7454	HP:0100774	Hyperostosis
ORPHANET:906	WAS	7454	HP:0000246	Sinusitis
ORPHANET:906	WAS	7454	HP:0002170	Intracranial hemorrhage
ORPHANET:906	WAS	7454	HP:0001878	Hemolytic anemia
ORPHANET:906	WAS	7454	HP:0002037	Inflammation of the large intestine
ORPHANET:906	WAS	7454	HP:0001873	Thrombocytopenia
ORPHANET:906	WAS	7454	HP:0001928	Abnormality of coagulation
ORPHANET:906	WAS	7454	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:906	WAS	7454	HP:0000388	Otitis media
ORPHANET:906	WAS	7454	HP:0001025	Urticaria
ORPHANET:906	WAS	7454	HP:0100749	Chest pain
ORPHANET:906	WAS	7454	HP:0002383	Encephalitis
ORPHANET:906	WAS	7454	HP:0000978	Bruising susceptibility
ORPHANET:906	WAS	7454	HP:0002093	Respiratory insufficiency
ORPHANET:906	WAS	7454	HP:0001369	Arthritis
ORPHANET:906	WAS	7454	HP:0000421	Epistaxis
ORPHANET:906	WAS	7454	HP:0009830	Peripheral neuropathy
OMIM:611783	EPAS1	2034	HP:0000006	Autosomal dominant inheritance
OMIM:611783	EGLN1	54583	HP:0000006	Autosomal dominant inheritance
OMIM:228960	KNG1	3827	HP:0000007	Autosomal recessive inheritance
OMIM:612938	FTO	79068	HP:0001250	Seizures
OMIM:612938	FTO	79068	HP:0001511	Intrauterine growth retardation
OMIM:612938	FTO	79068	HP:0001508	Failure to thrive
OMIM:612938	FTO	79068	HP:0010808	Protruding tongue
OMIM:612938	FTO	79068	HP:0001537	Umbilical hernia
OMIM:612938	FTO	79068	HP:0000252	Microcephaly
OMIM:612938	FTO	79068	HP:0000407	Sensorineural hearing impairment
OMIM:612938	FTO	79068	HP:0000007	Autosomal recessive inheritance
OMIM:612938	FTO	79068	HP:0000278	Retrognathia
OMIM:612938	FTO	79068	HP:0000193	Bifid uvula
OMIM:612938	FTO	79068	HP:0000280	Coarse facial features
OMIM:612938	FTO	79068	HP:0000470	Short neck
OMIM:612938	FTO	79068	HP:0001792	Small nail
OMIM:612938	FTO	79068	HP:0001339	Lissencephaly
OMIM:612938	FTO	79068	HP:0000158	Macroglossia
OMIM:612938	FTO	79068	HP:0000238	Hydrocephalus
OMIM:612938	FTO	79068	HP:0000028	Cryptorchidism
OMIM:612938	FTO	79068	HP:0000965	Cutis marmorata
OMIM:612938	FTO	79068	HP:0001639	Hypertrophic cardiomyopathy
OMIM:612938	FTO	79068	HP:0001156	Brachydactyly syndrome
OMIM:612938	FTO	79068	HP:0000175	Cleft palate
OMIM:612938	FTO	79068	HP:0001629	Ventricular septal defect
OMIM:612938	FTO	79068	HP:0001276	Hypertonia
OMIM:612938	FTO	79068	HP:0001305	Dandy-Walker malformation
OMIM:612938	FTO	79068	HP:0001513	Obesity
OMIM:612938	FTO	79068	HP:0000463	Anteverted nares
OMIM:612938	FTO	79068	HP:0001643	Patent ductus arteriosus
OMIM:612938	FTO	79068	HP:0001263	Global developmental delay
OMIM:614480	GPD1	2819	HP:0001395	Hepatic fibrosis
OMIM:614480	GPD1	2819	HP:0001397	Hepatic steatosis
OMIM:614480	GPD1	2819	HP:0002910	Elevated hepatic transaminases
OMIM:614480	GPD1	2819	HP:0004322	Short stature
OMIM:614480	GPD1	2819	HP:0000007	Autosomal recessive inheritance
OMIM:614480	GPD1	2819	HP:0002240	Hepatomegaly
OMIM:614480	GPD1	2819	HP:0002155	Hypertriglyceridemia
OMIM:614480	GPD1	2819	HP:0003593	Infantile onset
OMIM:614480	GPD1	2819	HP:0001744	Splenomegaly
OMIM:605911	HMGCS2	3158	HP:0001943	Hypoglycemia
OMIM:605911	HMGCS2	3158	HP:0001250	Seizures
OMIM:608572	TXNL4A	10907	HP:0000175	Cleft palate
OMIM:608572	TXNL4A	10907	HP:0001629	Ventricular septal defect
OMIM:608572	TXNL4A	10907	HP:0000193	Bifid uvula
OMIM:608572	TXNL4A	10907	HP:0000426	Prominent nasal bridge
OMIM:608572	TXNL4A	10907	HP:0000430	Underdeveloped nasal alae
OMIM:608572	TXNL4A	10907	HP:0000316	Hypertelorism
OMIM:608572	TXNL4A	10907	HP:0000384	Preauricular skin tag
OMIM:608572	TXNL4A	10907	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:608572	TXNL4A	10907	HP:0000233	Thin vermilion border
OMIM:608572	TXNL4A	10907	HP:0000453	Choanal atresia
OMIM:608572	TXNL4A	10907	HP:0000411	Protruding ear
OMIM:608572	TXNL4A	10907	HP:0000405	Conductive hearing impairment
OMIM:608572	TXNL4A	10907	HP:0004691	2-3 toe syndactyly
OMIM:608572	TXNL4A	10907	HP:0000581	Blepharophimosis
OMIM:608572	TXNL4A	10907	HP:0004322	Short stature
OMIM:608572	TXNL4A	10907	HP:0003196	Short nose
OMIM:608572	TXNL4A	10907	HP:0001631	Atria septal defect
OMIM:608572	TXNL4A	10907	HP:0000007	Autosomal recessive inheritance
OMIM:608572	TXNL4A	10907	HP:0000338	Hypomimic face
OMIM:608572	TXNL4A	10907	HP:0000160	Narrow mouth
OMIM:608572	TXNL4A	10907	HP:0000303	Mandibular prognathia
OMIM:608572	TXNL4A	10907	HP:0012745	Short palpebral fissure
OMIM:608572	TXNL4A	10907	HP:0000322	Short philtrum
OMIM:608572	TXNL4A	10907	HP:0000174	Abnormality of the palate
OMIM:608572	TXNL4A	10907	HP:0008872	Feeding difficulties in infancy
OMIM:608572	TXNL4A	10907	HP:0000089	Renal hypoplasia
OMIM:608572	TXNL4A	10907	HP:0000347	Micrognathia
OMIM:608572	TXNL4A	10907	HP:0001671	Abnormality of the cardiac septa
OMIM:608572	TXNL4A	10907	HP:0000204	Cleft upper lip
OMIM:609006	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:609006	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:609006	MSRB3	253827	HP:0008568	Vestibular areflexia
OMIM:609006	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:609006	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:609006	BSND	7809	HP:0008568	Vestibular areflexia
OMIM:609006	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:609006	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:609006	ESPN	83715	HP:0008568	Vestibular areflexia
OMIM:609006	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:609006	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:609006	DFNB31	25861	HP:0008568	Vestibular areflexia
OMIM:609006	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:609006	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:609006	OTOA	146183	HP:0008568	Vestibular areflexia
OMIM:609006	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:609006	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:609006	GJA1	2697	HP:0008568	Vestibular areflexia
OMIM:609006	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:609006	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:609006	MET	4233	HP:0008568	Vestibular areflexia
OMIM:609006	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:609006	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:609006	CLDN14	23562	HP:0008568	Vestibular areflexia
OMIM:609006	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:609006	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:609006	HGF	3082	HP:0008568	Vestibular areflexia
OMIM:609006	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:609006	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:609006	PNPT1	87178	HP:0008568	Vestibular areflexia
OMIM:609006	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:609006	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:609006	EPS8	2059	HP:0008568	Vestibular areflexia
OMIM:609006	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:609006	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:609006	MYO3A	53904	HP:0008568	Vestibular areflexia
OMIM:609006	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:609006	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:609006	DCDC2	51473	HP:0008568	Vestibular areflexia
OMIM:609006	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:609006	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:609006	GJB2	2706	HP:0008568	Vestibular areflexia
OMIM:609006	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:609006	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:609006	GJB3	2707	HP:0008568	Vestibular areflexia
OMIM:609006	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:609006	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:609006	CABP2	51475	HP:0008568	Vestibular areflexia
OMIM:609006	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:609006	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:609006	GRXCR2	643226	HP:0008568	Vestibular areflexia
OMIM:609006	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:609006	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:609006	SERPINB6	5269	HP:0008568	Vestibular areflexia
OMIM:609006	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:609006	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:609006	COL11A2	1302	HP:0008568	Vestibular areflexia
OMIM:609006	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:609006	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:609006	CIB2	10518	HP:0008568	Vestibular areflexia
OMIM:609006	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:609006	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:609006	FAM65B	9750	HP:0008568	Vestibular areflexia
OMIM:609006	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:609006	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:609006	KARS	3735	HP:0008568	Vestibular areflexia
OMIM:609006	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:609006	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:609006	LOXHD1	125336	HP:0008568	Vestibular areflexia
OMIM:609006	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:609006	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:609006	TMC1	117531	HP:0008568	Vestibular areflexia
OMIM:609006	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:609006	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:609006	CLIC5	53405	HP:0008568	Vestibular areflexia
OMIM:609006	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:609006	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:609006	OTOF	9381	HP:0008568	Vestibular areflexia
OMIM:609006	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:609006	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:609006	MYO6	4646	HP:0008568	Vestibular areflexia
OMIM:609006	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:609006	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:609006	TMIE	259236	HP:0008568	Vestibular areflexia
OMIM:609006	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:609006	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:609006	MYO7A	4647	HP:0008568	Vestibular areflexia
OMIM:609006	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:609006	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:609006	LRTOMT	220074	HP:0008568	Vestibular areflexia
OMIM:609006	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:609006	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:609006	OTOGL	283310	HP:0008568	Vestibular areflexia
OMIM:609006	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:609006	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:609006	TPRN	286262	HP:0008568	Vestibular areflexia
OMIM:609006	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:609006	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:609006	SLC26A4	5172	HP:0008568	Vestibular areflexia
OMIM:609006	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:609006	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:609006	GJB6	10804	HP:0008568	Vestibular areflexia
OMIM:609006	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:609006	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:609006	DFNB59	494513	HP:0008568	Vestibular areflexia
OMIM:609006	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:609006	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:609006	ESRRB	2103	HP:0008568	Vestibular areflexia
OMIM:609006	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:609006	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:609006	TMPRSS3	64699	HP:0008568	Vestibular areflexia
OMIM:609006	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:609006	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:609006	PTPRQ	374462	HP:0008568	Vestibular areflexia
OMIM:609006	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:609006	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:609006	SLC26A5	375611	HP:0008568	Vestibular areflexia
OMIM:609006	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:609006	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:609006	PCDH15	65217	HP:0008568	Vestibular areflexia
OMIM:609006	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:609006	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:609006	TSPEAR	54084	HP:0008568	Vestibular areflexia
OMIM:609006	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:609006	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:609006	LHFPL5	222662	HP:0008568	Vestibular areflexia
OMIM:609006	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:609006	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:609006	TRIOBP	11078	HP:0008568	Vestibular areflexia
OMIM:609006	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:609006	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:609006	CDH23	64072	HP:0008568	Vestibular areflexia
OMIM:609006	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:609006	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:609006	RDX	5962	HP:0008568	Vestibular areflexia
OMIM:609006	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:609006	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:609006	GPSM2	29899	HP:0008568	Vestibular areflexia
OMIM:609006	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:609006	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:609006	ELMOD3	84173	HP:0008568	Vestibular areflexia
OMIM:609006	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:609006	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:609006	ILDR1	286676	HP:0008568	Vestibular areflexia
OMIM:609006	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:609006	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:609006	GRXCR1	389207	HP:0008568	Vestibular areflexia
OMIM:609006	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:609006	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:609006	MARVELD2	153562	HP:0008568	Vestibular areflexia
OMIM:609006	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:609006	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:609006	STRC	161497	HP:0008568	Vestibular areflexia
OMIM:609006	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:609006	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:609006	SLITRK6	84189	HP:0008568	Vestibular areflexia
OMIM:609006	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:609006	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:609006	TECTA	7007	HP:0008568	Vestibular areflexia
OMIM:609006	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:609006	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:609006	MYO15A	51168	HP:0008568	Vestibular areflexia
OMIM:609006	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:609006	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:609006	USH1C	10083	HP:0008568	Vestibular areflexia
OMIM:609006	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:609006	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:609006	ADCY1	107	HP:0008568	Vestibular areflexia
OMIM:609006	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:609006	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:609006	SYNE4	163183	HP:0008568	Vestibular areflexia
OMIM:609006	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:609006	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:609006	GIPC3	126326	HP:0008568	Vestibular areflexia
OMIM:609006	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:609006	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:609006	TBC1D24	57465	HP:0008568	Vestibular areflexia
OMIM:609006	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:609006	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:609006	OTOG	340990	HP:0008568	Vestibular areflexia
OMIM:302500	GJB1	2705	HP:0000486	Strabismus
OMIM:302500	GJB1	2705	HP:0001251	Ataxia
OMIM:302500	GJB1	2705	HP:0001270	Motor delay
OMIM:302500	GJB1	2705	HP:0001260	Dysarthria
OMIM:302500	GJB1	2705	HP:0003577	Congenital onset
OMIM:302500	GJB1	2705	HP:0003680	Nonprogressive
OMIM:302500	GJB1	2705	HP:0001272	Cerebellar atrophy
OMIM:302500	GJB1	2705	HP:0001319	Neonatal hypotonia
OMIM:302500	GJB1	2705	HP:0003621	Juvenile onset
OMIM:302500	GJB1	2705	HP:0001419	X-linked recessive inheritance
OMIM:302500	GJB1	2705	HP:0000639	Nystagmus
OMIM:302500	ATP2B3	492	HP:0000486	Strabismus
OMIM:302500	ATP2B3	492	HP:0001251	Ataxia
OMIM:302500	ATP2B3	492	HP:0001270	Motor delay
OMIM:302500	ATP2B3	492	HP:0001260	Dysarthria
OMIM:302500	ATP2B3	492	HP:0003577	Congenital onset
OMIM:302500	ATP2B3	492	HP:0003680	Nonprogressive
OMIM:302500	ATP2B3	492	HP:0001272	Cerebellar atrophy
OMIM:302500	ATP2B3	492	HP:0001319	Neonatal hypotonia
OMIM:302500	ATP2B3	492	HP:0003621	Juvenile onset
OMIM:302500	ATP2B3	492	HP:0001419	X-linked recessive inheritance
OMIM:302500	ATP2B3	492	HP:0000639	Nystagmus
OMIM:273750	CCDC8	83987	HP:0000303	Mandibular prognathia
OMIM:273750	CCDC8	83987	HP:0000574	Thick eyebrow
OMIM:273750	CCDC8	83987	HP:0000325	Triangular face
OMIM:273750	CCDC8	83987	HP:0003691	Scapular winging
OMIM:273750	CCDC8	83987	HP:0000047	Hypospadias
OMIM:273750	CCDC8	83987	HP:0000268	Dolichocephaly
OMIM:273750	CCDC8	83987	HP:0000767	Pectus excavatum
OMIM:273750	CCDC8	83987	HP:0000272	Malar flattening
OMIM:273750	CCDC8	83987	HP:0001518	Small for gestational age
OMIM:273750	CCDC8	83987	HP:0002750	Delayed skeletal maturation
OMIM:273750	CCDC8	83987	HP:0000773	Short ribs
OMIM:273750	CCDC8	83987	HP:0003100	Slender long bone
OMIM:273750	CCDC8	83987	HP:0008734	Decreased testicular size
OMIM:273750	CCDC8	83987	HP:0001763	Pes planus
OMIM:273750	CCDC8	83987	HP:0002827	Hip dislocation
OMIM:273750	CCDC8	83987	HP:0001382	Joint hypermobility
OMIM:273750	CCDC8	83987	HP:0003298	Spina bifida occulta
OMIM:273750	CCDC8	83987	HP:0005280	Depressed nasal bridge
OMIM:273750	CCDC8	83987	HP:0002007	Frontal bossing
OMIM:273750	CCDC8	83987	HP:0000463	Anteverted nares
OMIM:273750	CCDC8	83987	HP:0003307	Hyperlordosis
OMIM:273750	CCDC8	83987	HP:0008897	Postnatal growth retardation
OMIM:273750	CCDC8	83987	HP:0010306	Short thorax
OMIM:273750	CCDC8	83987	HP:0000007	Autosomal recessive inheritance
OMIM:273750	CCDC8	83987	HP:0009237	Short 5th finger
OMIM:273750	CCDC8	83987	HP:0000307	Pointed chin
OMIM:273750	CCDC8	83987	HP:0000343	Long philtrum
OMIM:273750	CCDC8	83987	HP:0000179	Thick lower lip vermilion
OMIM:273750	CCDC8	83987	HP:0004322	Short stature
OMIM:273750	CCDC8	83987	HP:0004209	Clinodactyly of the 5th finger
OMIM:273750	CCDC8	83987	HP:0001511	Intrauterine growth retardation
OMIM:273750	CCDC8	83987	HP:0000470	Short neck
OMIM:273750	OBSL1	23363	HP:0000303	Mandibular prognathia
OMIM:273750	OBSL1	23363	HP:0000574	Thick eyebrow
OMIM:273750	OBSL1	23363	HP:0000325	Triangular face
OMIM:273750	OBSL1	23363	HP:0003691	Scapular winging
OMIM:273750	OBSL1	23363	HP:0000047	Hypospadias
OMIM:273750	OBSL1	23363	HP:0000268	Dolichocephaly
OMIM:273750	OBSL1	23363	HP:0000767	Pectus excavatum
OMIM:273750	OBSL1	23363	HP:0000272	Malar flattening
OMIM:273750	OBSL1	23363	HP:0001518	Small for gestational age
OMIM:273750	OBSL1	23363	HP:0002750	Delayed skeletal maturation
OMIM:273750	OBSL1	23363	HP:0000773	Short ribs
OMIM:273750	OBSL1	23363	HP:0003100	Slender long bone
OMIM:273750	OBSL1	23363	HP:0008734	Decreased testicular size
OMIM:273750	OBSL1	23363	HP:0001763	Pes planus
OMIM:273750	OBSL1	23363	HP:0002827	Hip dislocation
OMIM:273750	OBSL1	23363	HP:0001382	Joint hypermobility
OMIM:273750	OBSL1	23363	HP:0003298	Spina bifida occulta
OMIM:273750	OBSL1	23363	HP:0005280	Depressed nasal bridge
OMIM:273750	OBSL1	23363	HP:0002007	Frontal bossing
OMIM:273750	OBSL1	23363	HP:0000463	Anteverted nares
OMIM:273750	OBSL1	23363	HP:0003307	Hyperlordosis
OMIM:273750	OBSL1	23363	HP:0008897	Postnatal growth retardation
OMIM:273750	OBSL1	23363	HP:0010306	Short thorax
OMIM:273750	OBSL1	23363	HP:0000007	Autosomal recessive inheritance
OMIM:273750	OBSL1	23363	HP:0009237	Short 5th finger
OMIM:273750	OBSL1	23363	HP:0000307	Pointed chin
OMIM:273750	OBSL1	23363	HP:0000343	Long philtrum
OMIM:273750	OBSL1	23363	HP:0000179	Thick lower lip vermilion
OMIM:273750	OBSL1	23363	HP:0004322	Short stature
OMIM:273750	OBSL1	23363	HP:0004209	Clinodactyly of the 5th finger
OMIM:273750	OBSL1	23363	HP:0001511	Intrauterine growth retardation
OMIM:273750	OBSL1	23363	HP:0000470	Short neck
OMIM:273750	CUL7	9820	HP:0000303	Mandibular prognathia
OMIM:273750	CUL7	9820	HP:0000574	Thick eyebrow
OMIM:273750	CUL7	9820	HP:0000325	Triangular face
OMIM:273750	CUL7	9820	HP:0003691	Scapular winging
OMIM:273750	CUL7	9820	HP:0000047	Hypospadias
OMIM:273750	CUL7	9820	HP:0000268	Dolichocephaly
OMIM:273750	CUL7	9820	HP:0000767	Pectus excavatum
OMIM:273750	CUL7	9820	HP:0000272	Malar flattening
OMIM:273750	CUL7	9820	HP:0001518	Small for gestational age
OMIM:273750	CUL7	9820	HP:0002750	Delayed skeletal maturation
OMIM:273750	CUL7	9820	HP:0000773	Short ribs
OMIM:273750	CUL7	9820	HP:0003100	Slender long bone
OMIM:273750	CUL7	9820	HP:0008734	Decreased testicular size
OMIM:273750	CUL7	9820	HP:0001763	Pes planus
OMIM:273750	CUL7	9820	HP:0002827	Hip dislocation
OMIM:273750	CUL7	9820	HP:0001382	Joint hypermobility
OMIM:273750	CUL7	9820	HP:0003298	Spina bifida occulta
OMIM:273750	CUL7	9820	HP:0005280	Depressed nasal bridge
OMIM:273750	CUL7	9820	HP:0002007	Frontal bossing
OMIM:273750	CUL7	9820	HP:0000463	Anteverted nares
OMIM:273750	CUL7	9820	HP:0003307	Hyperlordosis
OMIM:273750	CUL7	9820	HP:0008897	Postnatal growth retardation
OMIM:273750	CUL7	9820	HP:0010306	Short thorax
OMIM:273750	CUL7	9820	HP:0000007	Autosomal recessive inheritance
OMIM:273750	CUL7	9820	HP:0009237	Short 5th finger
OMIM:273750	CUL7	9820	HP:0000307	Pointed chin
OMIM:273750	CUL7	9820	HP:0000343	Long philtrum
OMIM:273750	CUL7	9820	HP:0000179	Thick lower lip vermilion
OMIM:273750	CUL7	9820	HP:0004322	Short stature
OMIM:273750	CUL7	9820	HP:0004209	Clinodactyly of the 5th finger
OMIM:273750	CUL7	9820	HP:0001511	Intrauterine growth retardation
OMIM:273750	CUL7	9820	HP:0000470	Short neck
OMIM:601224	ALX4	60529	HP:0100543	Cognitive impairment
OMIM:601224	ALX4	60529	HP:0004331	Decreased skull ossification
OMIM:601224	ALX4	60529	HP:0001252	Muscular hypotonia
OMIM:601224	ALX4	60529	HP:0001249	Intellectual disability
OMIM:601224	ALX4	60529	HP:0100777	Exostoses
OMIM:601224	ALX4	60529	HP:0000248	Brachycephaly
OMIM:601224	ALX4	60529	HP:0002697	Parietal foramina
OMIM:601224	ALX4	60529	HP:0000954	Single transverse palmar crease
OMIM:601224	ALX4	60529	HP:0000494	Downslanted palpebral fissures
OMIM:601224	ALX4	60529	HP:0000054	Micropenis
OMIM:601224	ALX4	60529	HP:0000431	Wide nasal bridge
OMIM:601224	ALX4	60529	HP:0000506	Telecanthus
OMIM:601224	ALX4	60529	HP:0001156	Brachydactyly syndrome
OMIM:601224	ALX4	60529	HP:0005338	Sparse lateral eyebrow
OMIM:601224	ALX4	60529	HP:0000262	Turricephaly
OMIM:601224	ALX4	60529	HP:0000430	Underdeveloped nasal alae
OMIM:601224	ALX4	60529	HP:0001250	Seizures
OMIM:601224	ALX4	60529	HP:0002714	Downturned corners of mouth
OMIM:601224	ALX4	60529	HP:0000337	Broad forehead
OMIM:601224	ALX4	60529	HP:0002645	Wormian bones
OMIM:601224	ALX4	60529	HP:0003196	Short nose
OMIM:601224	ALX4	60529	HP:0000322	Short philtrum
OMIM:601224	ALX4	60529	HP:0000348	High forehead
OMIM:601224	ALX4	60529	HP:0000286	Epicanthus
OMIM:601224	EXT2	2132	HP:0100543	Cognitive impairment
OMIM:601224	EXT2	2132	HP:0004331	Decreased skull ossification
OMIM:601224	EXT2	2132	HP:0001252	Muscular hypotonia
OMIM:601224	EXT2	2132	HP:0001249	Intellectual disability
OMIM:601224	EXT2	2132	HP:0100777	Exostoses
OMIM:601224	EXT2	2132	HP:0000248	Brachycephaly
OMIM:601224	EXT2	2132	HP:0002697	Parietal foramina
OMIM:601224	EXT2	2132	HP:0000954	Single transverse palmar crease
OMIM:601224	EXT2	2132	HP:0000494	Downslanted palpebral fissures
OMIM:601224	EXT2	2132	HP:0000054	Micropenis
OMIM:601224	EXT2	2132	HP:0000431	Wide nasal bridge
OMIM:601224	EXT2	2132	HP:0000506	Telecanthus
OMIM:601224	EXT2	2132	HP:0001156	Brachydactyly syndrome
OMIM:601224	EXT2	2132	HP:0005338	Sparse lateral eyebrow
OMIM:601224	EXT2	2132	HP:0000262	Turricephaly
OMIM:601224	EXT2	2132	HP:0000430	Underdeveloped nasal alae
OMIM:601224	EXT2	2132	HP:0001250	Seizures
OMIM:601224	EXT2	2132	HP:0002714	Downturned corners of mouth
OMIM:601224	EXT2	2132	HP:0000337	Broad forehead
OMIM:601224	EXT2	2132	HP:0002645	Wormian bones
OMIM:601224	EXT2	2132	HP:0003196	Short nose
OMIM:601224	EXT2	2132	HP:0000322	Short philtrum
OMIM:601224	EXT2	2132	HP:0000348	High forehead
OMIM:601224	EXT2	2132	HP:0000286	Epicanthus
OMIM:601224	PHF21A	51317	HP:0100543	Cognitive impairment
OMIM:601224	PHF21A	51317	HP:0004331	Decreased skull ossification
OMIM:601224	PHF21A	51317	HP:0001252	Muscular hypotonia
OMIM:601224	PHF21A	51317	HP:0001249	Intellectual disability
OMIM:601224	PHF21A	51317	HP:0100777	Exostoses
OMIM:601224	PHF21A	51317	HP:0000248	Brachycephaly
OMIM:601224	PHF21A	51317	HP:0002697	Parietal foramina
OMIM:601224	PHF21A	51317	HP:0000954	Single transverse palmar crease
OMIM:601224	PHF21A	51317	HP:0000494	Downslanted palpebral fissures
OMIM:601224	PHF21A	51317	HP:0000054	Micropenis
OMIM:601224	PHF21A	51317	HP:0000431	Wide nasal bridge
OMIM:601224	PHF21A	51317	HP:0000506	Telecanthus
OMIM:601224	PHF21A	51317	HP:0001156	Brachydactyly syndrome
OMIM:601224	PHF21A	51317	HP:0005338	Sparse lateral eyebrow
OMIM:601224	PHF21A	51317	HP:0000262	Turricephaly
OMIM:601224	PHF21A	51317	HP:0000430	Underdeveloped nasal alae
OMIM:601224	PHF21A	51317	HP:0001250	Seizures
OMIM:601224	PHF21A	51317	HP:0002714	Downturned corners of mouth
OMIM:601224	PHF21A	51317	HP:0000337	Broad forehead
OMIM:601224	PHF21A	51317	HP:0002645	Wormian bones
OMIM:601224	PHF21A	51317	HP:0003196	Short nose
OMIM:601224	PHF21A	51317	HP:0000322	Short philtrum
OMIM:601224	PHF21A	51317	HP:0000348	High forehead
OMIM:601224	PHF21A	51317	HP:0000286	Epicanthus
OMIM:600496	CEL	1056	HP:0000006	Autosomal dominant inheritance
OMIM:600496	CEL	1056	HP:0003074	Hyperglycemia
OMIM:600496	CEL	1056	HP:0005978	Type II diabetes mellitus
OMIM:600496	CEL	1056	HP:0003593	Infantile onset
OMIM:600496	BLK	640	HP:0000006	Autosomal dominant inheritance
OMIM:600496	BLK	640	HP:0003074	Hyperglycemia
OMIM:600496	BLK	640	HP:0005978	Type II diabetes mellitus
OMIM:600496	BLK	640	HP:0003593	Infantile onset
OMIM:600496	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:600496	PDX1	3651	HP:0003074	Hyperglycemia
OMIM:600496	PDX1	3651	HP:0005978	Type II diabetes mellitus
OMIM:600496	PDX1	3651	HP:0003593	Infantile onset
OMIM:600496	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:600496	HNF4A	3172	HP:0003074	Hyperglycemia
OMIM:600496	HNF4A	3172	HP:0005978	Type II diabetes mellitus
OMIM:600496	HNF4A	3172	HP:0003593	Infantile onset
OMIM:600496	APPL1	26060	HP:0000006	Autosomal dominant inheritance
OMIM:600496	APPL1	26060	HP:0003074	Hyperglycemia
OMIM:600496	APPL1	26060	HP:0005978	Type II diabetes mellitus
OMIM:600496	APPL1	26060	HP:0003593	Infantile onset
OMIM:600496	KLF11	8462	HP:0000006	Autosomal dominant inheritance
OMIM:600496	KLF11	8462	HP:0003074	Hyperglycemia
OMIM:600496	KLF11	8462	HP:0005978	Type II diabetes mellitus
OMIM:600496	KLF11	8462	HP:0003593	Infantile onset
OMIM:600496	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:600496	INS	3630	HP:0003074	Hyperglycemia
OMIM:600496	INS	3630	HP:0005978	Type II diabetes mellitus
OMIM:600496	INS	3630	HP:0003593	Infantile onset
OMIM:600496	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:600496	HNF1A	6927	HP:0003074	Hyperglycemia
OMIM:600496	HNF1A	6927	HP:0005978	Type II diabetes mellitus
OMIM:600496	HNF1A	6927	HP:0003593	Infantile onset
OMIM:600496	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:600496	ABCC8	6833	HP:0003074	Hyperglycemia
OMIM:600496	ABCC8	6833	HP:0005978	Type II diabetes mellitus
OMIM:600496	ABCC8	6833	HP:0003593	Infantile onset
OMIM:600496	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:600496	GCK	2645	HP:0003074	Hyperglycemia
OMIM:600496	GCK	2645	HP:0005978	Type II diabetes mellitus
OMIM:600496	GCK	2645	HP:0003593	Infantile onset
OMIM:600496	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:600496	PAX4	5078	HP:0003074	Hyperglycemia
OMIM:600496	PAX4	5078	HP:0005978	Type II diabetes mellitus
OMIM:600496	PAX4	5078	HP:0003593	Infantile onset
OMIM:600496	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:600496	KCNJ11	3767	HP:0003074	Hyperglycemia
OMIM:600496	KCNJ11	3767	HP:0005978	Type II diabetes mellitus
OMIM:600496	KCNJ11	3767	HP:0003593	Infantile onset
OMIM:600496	NEUROD1	4760	HP:0000006	Autosomal dominant inheritance
OMIM:600496	NEUROD1	4760	HP:0003074	Hyperglycemia
OMIM:600496	NEUROD1	4760	HP:0005978	Type II diabetes mellitus
OMIM:600496	NEUROD1	4760	HP:0003593	Infantile onset
OMIM:241520	DMP1	1758	HP:0001363	Craniosynostosis
OMIM:241520	DMP1	1758	HP:0011001	Increased bone mineral density
OMIM:241520	DMP1	1758	HP:0000407	Sensorineural hearing impairment
OMIM:241520	DMP1	1758	HP:0000007	Autosomal recessive inheritance
OMIM:241520	DMP1	1758	HP:0002148	Hypophosphatemia
OMIM:241520	ENPP1	5167	HP:0001363	Craniosynostosis
OMIM:241520	ENPP1	5167	HP:0011001	Increased bone mineral density
OMIM:241520	ENPP1	5167	HP:0000407	Sensorineural hearing impairment
OMIM:241520	ENPP1	5167	HP:0000007	Autosomal recessive inheritance
OMIM:241520	ENPP1	5167	HP:0002148	Hypophosphatemia
OMIM:616389	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:616389	SLC24A1	9187	HP:0000007	Autosomal recessive inheritance
OMIM:616389	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:616389	GRM6	2916	HP:0000007	Autosomal recessive inheritance
OMIM:616389	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:616389	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:616389	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:616389	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:616389	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:616389	LRIT3	345193	HP:0000007	Autosomal recessive inheritance
OMIM:616389	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:616389	CABP4	57010	HP:0000007	Autosomal recessive inheritance
OMIM:616389	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:616389	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:616389	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:616389	TRPM1	4308	HP:0000007	Autosomal recessive inheritance
OMIM:616389	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:616389	GPR179	440435	HP:0000007	Autosomal recessive inheritance
OMIM:616389	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:616389	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:616389	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:616389	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:616389	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:616389	NYX	60506	HP:0000007	Autosomal recessive inheritance
OMIM:616389	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:616389	GNAT1	2779	HP:0000007	Autosomal recessive inheritance
OMIM:616389	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:616389	GRK1	6011	HP:0000007	Autosomal recessive inheritance
OMIM:615537	ADAM10	102	HP:0000006	Autosomal dominant inheritance
OMIM:500001	ND3	4537	HP:0002490	Increased CSF lactate
OMIM:500001	ND3	4537	HP:0002650	Scoliosis
OMIM:500001	ND3	4537	HP:0000726	Dementia
OMIM:500001	ND3	4537	HP:0000648	Optic atrophy
OMIM:500001	ND3	4537	HP:0001332	Dystonia
OMIM:500001	ND3	4537	HP:0001257	Spasticity
OMIM:500001	ND3	4537	HP:0009830	Peripheral neuropathy
OMIM:500001	ND3	4537	HP:0001249	Intellectual disability
OMIM:500001	ND3	4537	HP:0003202	Skeletal muscle atrophy
OMIM:500001	ND3	4537	HP:0000496	Abnormality of eye movement
OMIM:500001	ND3	4537	HP:0001260	Dysarthria
OMIM:500001	ND3	4537	HP:0002015	Dysphagia
OMIM:500001	ND3	4537	HP:0001427	Mitochondrial inheritance
OMIM:500001	ND3	4537	HP:0000572	Visual loss
OMIM:500001	ND3	4537	HP:0002305	Athetosis
OMIM:500001	ND3	4537	HP:0002067	Bradykinesia
OMIM:500001	ND3	4537	HP:0002151	Increased serum lactate
OMIM:500001	ND4	4538	HP:0002490	Increased CSF lactate
OMIM:500001	ND4	4538	HP:0002650	Scoliosis
OMIM:500001	ND4	4538	HP:0000726	Dementia
OMIM:500001	ND4	4538	HP:0000648	Optic atrophy
OMIM:500001	ND4	4538	HP:0001332	Dystonia
OMIM:500001	ND4	4538	HP:0001257	Spasticity
OMIM:500001	ND4	4538	HP:0009830	Peripheral neuropathy
OMIM:500001	ND4	4538	HP:0001249	Intellectual disability
OMIM:500001	ND4	4538	HP:0003202	Skeletal muscle atrophy
OMIM:500001	ND4	4538	HP:0000496	Abnormality of eye movement
OMIM:500001	ND4	4538	HP:0001260	Dysarthria
OMIM:500001	ND4	4538	HP:0002015	Dysphagia
OMIM:500001	ND4	4538	HP:0001427	Mitochondrial inheritance
OMIM:500001	ND4	4538	HP:0000572	Visual loss
OMIM:500001	ND4	4538	HP:0002305	Athetosis
OMIM:500001	ND4	4538	HP:0002067	Bradykinesia
OMIM:500001	ND4	4538	HP:0002151	Increased serum lactate
OMIM:500001	ND6	4541	HP:0002490	Increased CSF lactate
OMIM:500001	ND6	4541	HP:0002650	Scoliosis
OMIM:500001	ND6	4541	HP:0000726	Dementia
OMIM:500001	ND6	4541	HP:0000648	Optic atrophy
OMIM:500001	ND6	4541	HP:0001332	Dystonia
OMIM:500001	ND6	4541	HP:0001257	Spasticity
OMIM:500001	ND6	4541	HP:0009830	Peripheral neuropathy
OMIM:500001	ND6	4541	HP:0001249	Intellectual disability
OMIM:500001	ND6	4541	HP:0003202	Skeletal muscle atrophy
OMIM:500001	ND6	4541	HP:0000496	Abnormality of eye movement
OMIM:500001	ND6	4541	HP:0001260	Dysarthria
OMIM:500001	ND6	4541	HP:0002015	Dysphagia
OMIM:500001	ND6	4541	HP:0001427	Mitochondrial inheritance
OMIM:500001	ND6	4541	HP:0000572	Visual loss
OMIM:500001	ND6	4541	HP:0002305	Athetosis
OMIM:500001	ND6	4541	HP:0002067	Bradykinesia
OMIM:500001	ND6	4541	HP:0002151	Increased serum lactate
OMIM:215045	PTH1R	5745	HP:0005280	Depressed nasal bridge
OMIM:215045	PTH1R	5745	HP:0005616	Accelerated skeletal maturation
OMIM:215045	PTH1R	5745	HP:0000889	Abnormality of the clavicle
OMIM:215045	PTH1R	5745	HP:0004322	Short stature
OMIM:215045	PTH1R	5745	HP:0000347	Micrognathia
OMIM:215045	PTH1R	5745	HP:0006288	Advanced eruption of teeth
OMIM:215045	PTH1R	5745	HP:0000368	Low-set, posteriorly rotated ears
OMIM:215045	PTH1R	5745	HP:0000518	Cataract
OMIM:215045	PTH1R	5745	HP:0003826	Stillbirth
OMIM:215045	PTH1R	5745	HP:0004233	Advanced ossification of carpal bones
OMIM:215045	PTH1R	5745	HP:0100240	Synostosis of joints
OMIM:215045	PTH1R	5745	HP:0001163	Abnormality of the metacarpal bones
OMIM:215045	PTH1R	5745	HP:0001789	Hydrops fetalis
OMIM:215045	PTH1R	5745	HP:0010306	Short thorax
OMIM:215045	PTH1R	5745	HP:0002983	Micromelia
OMIM:215045	PTH1R	5745	HP:0001622	Premature birth
OMIM:215045	PTH1R	5745	HP:0000272	Malar flattening
OMIM:215045	PTH1R	5745	HP:0000774	Narrow chest
OMIM:215045	PTH1R	5745	HP:0009924	Aplasia/Hypoplasia involving the nose
OMIM:215045	PTH1R	5745	HP:0001561	Polyhydramnios
OMIM:215045	PTH1R	5745	HP:0000157	Abnormality of the tongue
OMIM:215045	PTH1R	5745	HP:0000007	Autosomal recessive inheritance
OMIM:215045	PTH1R	5745	HP:0005930	Abnormality of epiphysis morphology
OMIM:215045	PTH1R	5745	HP:0000773	Short ribs
OMIM:215045	PTH1R	5745	HP:0003177	Squared iliac bones
OMIM:215045	PTH1R	5745	HP:0003312	Abnormal form of the vertebral bodies
OMIM:215045	PTH1R	5745	HP:0003015	Flared metaphysis
OMIM:215045	PTH1R	5745	HP:0000463	Anteverted nares
OMIM:215045	PTH1R	5745	HP:0000343	Long philtrum
OMIM:215045	PTH1R	5745	HP:0000520	Proptosis
OMIM:215045	PTH1R	5745	HP:0006487	Bowing of the long bones
OMIM:215045	PTH1R	5745	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:603786	ELOVL4	6785	HP:0000006	Autosomal dominant inheritance
OMIM:603786	ELOVL4	6785	HP:0007663	Reduced visual acuity
OMIM:603786	ELOVL4	6785	HP:0000608	Macular degeneration
OMIM:603786	ELOVL4	6785	HP:0012045	Retinal flecks
OMIM:603786	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:603786	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:603786	ABCA4	24	HP:0000608	Macular degeneration
OMIM:603786	ABCA4	24	HP:0012045	Retinal flecks
OMIM:603786	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:603786	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:603786	PROM1	8842	HP:0000608	Macular degeneration
OMIM:603786	PROM1	8842	HP:0012045	Retinal flecks
OMIM:603786	CNGB3	54714	HP:0000006	Autosomal dominant inheritance
OMIM:603786	CNGB3	54714	HP:0007663	Reduced visual acuity
OMIM:603786	CNGB3	54714	HP:0000608	Macular degeneration
OMIM:603786	CNGB3	54714	HP:0012045	Retinal flecks
OMIM:601847	TJP2	9414	HP:0002014	Diarrhea
OMIM:601847	TJP2	9414	HP:0001394	Cirrhosis
OMIM:601847	TJP2	9414	HP:0002630	Fat malabsorption
OMIM:601847	TJP2	9414	HP:0000007	Autosomal recessive inheritance
OMIM:601847	TJP2	9414	HP:0001744	Splenomegaly
OMIM:601847	TJP2	9414	HP:0001508	Failure to thrive
OMIM:601847	TJP2	9414	HP:0001406	Intrahepatic cholestasis
OMIM:601847	TJP2	9414	HP:0003593	Infantile onset
OMIM:601847	TJP2	9414	HP:0004322	Short stature
OMIM:601847	TJP2	9414	HP:0000989	Pruritus
OMIM:601847	TJP2	9414	HP:0002908	Conjugated hyperbilirubinemia
OMIM:601847	TJP2	9414	HP:0002240	Hepatomegaly
OMIM:601847	TJP2	9414	HP:0003819	Death in childhood
OMIM:601847	ABCB11	8647	HP:0002014	Diarrhea
OMIM:601847	ABCB11	8647	HP:0001394	Cirrhosis
OMIM:601847	ABCB11	8647	HP:0002630	Fat malabsorption
OMIM:601847	ABCB11	8647	HP:0000007	Autosomal recessive inheritance
OMIM:601847	ABCB11	8647	HP:0001744	Splenomegaly
OMIM:601847	ABCB11	8647	HP:0001508	Failure to thrive
OMIM:601847	ABCB11	8647	HP:0001406	Intrahepatic cholestasis
OMIM:601847	ABCB11	8647	HP:0003593	Infantile onset
OMIM:601847	ABCB11	8647	HP:0004322	Short stature
OMIM:601847	ABCB11	8647	HP:0000989	Pruritus
OMIM:601847	ABCB11	8647	HP:0002908	Conjugated hyperbilirubinemia
OMIM:601847	ABCB11	8647	HP:0002240	Hepatomegaly
OMIM:601847	ABCB11	8647	HP:0003819	Death in childhood
OMIM:610582	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:610582	HYMAI	57061	HP:0000006	Autosomal dominant inheritance
OMIM:610582	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:610582	PLAGL1	5325	HP:0000006	Autosomal dominant inheritance
OMIM:610582	ZFP57	346171	HP:0000006	Autosomal dominant inheritance
OMIM:612247	FGFR3	2261	HP:0000648	Optic atrophy
OMIM:612247	FGFR3	2261	HP:0002007	Frontal bossing
OMIM:612247	FGFR3	2261	HP:0005107	Abnormality of the sacrum
OMIM:612247	FGFR3	2261	HP:0000486	Strabismus
OMIM:612247	FGFR3	2261	HP:0001156	Brachydactyly syndrome
OMIM:612247	FGFR3	2261	HP:0000956	Acanthosis nigricans
OMIM:612247	FGFR3	2261	HP:0001163	Abnormality of the metacarpal bones
OMIM:612247	FGFR3	2261	HP:0000316	Hypertelorism
OMIM:612247	FGFR3	2261	HP:0000520	Proptosis
OMIM:612247	FGFR3	2261	HP:0000238	Hydrocephalus
OMIM:612247	FGFR3	2261	HP:0000444	Convex nasal ridge
OMIM:612247	FGFR3	2261	HP:0000453	Choanal atresia
OMIM:612247	FGFR3	2261	HP:0000508	Ptosis
OMIM:612247	FGFR3	2261	HP:0001363	Craniosynostosis
OMIM:612247	FGFR3	2261	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:612247	FGFR3	2261	HP:0100533	Inflammatory abnormality of the eye
OMIM:612247	FGFR3	2261	HP:0002076	Migraine
OMIM:612247	FGFR3	2261	HP:0000174	Abnormality of the palate
OMIM:612247	FGFR3	2261	HP:0003312	Abnormal form of the vertebral bodies
OMIM:612247	FGFR3	2261	HP:0011800	Hypoplasia of midface
OMIM:612247	FGFR3	2261	HP:0000348	High forehead
OMIM:612247	FGFR3	2261	HP:0000995	Melanocytic nevus
OMIM:612247	FGFR3	2261	HP:0002093	Respiratory insufficiency
OMIM:612247	FGFR3	2261	HP:0000272	Malar flattening
OMIM:612247	FGFR3	2261	HP:0002308	Arnold-Chiari malformation
OMIM:612247	FGFR3	2261	HP:0000248	Brachycephaly
OMIM:612247	FGFR3	2261	HP:0000505	Visual impairment
OMIM:612247	FGFR3	2261	HP:0000405	Conductive hearing impairment
OMIM:615074	GATAD2B	57459	HP:0002463	Language impairment
OMIM:615074	GATAD2B	57459	HP:0000006	Autosomal dominant inheritance
OMIM:615074	GATAD2B	57459	HP:0000322	Short philtrum
OMIM:615074	GATAD2B	57459	HP:0008070	Sparse hair
OMIM:615074	GATAD2B	57459	HP:0010864	Intellectual disability, severe
OMIM:615074	GATAD2B	57459	HP:0001263	Global developmental delay
OMIM:615074	GATAD2B	57459	HP:0000455	Broad nasal tip
OMIM:615074	GATAD2B	57459	HP:0000486	Strabismus
OMIM:615074	GATAD2B	57459	HP:0001319	Neonatal hypotonia
OMIM:611881	ALDOA	226	HP:0002162	Low posterior hairline
OMIM:611881	ALDOA	226	HP:0001082	Cholecystitis
OMIM:611881	ALDOA	226	HP:0001744	Splenomegaly
OMIM:611881	ALDOA	226	HP:0000952	Jaundice
OMIM:611881	ALDOA	226	HP:0000508	Ptosis
OMIM:611881	ALDOA	226	HP:0000286	Epicanthus
OMIM:611881	ALDOA	226	HP:0000470	Short neck
OMIM:611881	ALDOA	226	HP:0004322	Short stature
OMIM:611881	ALDOA	226	HP:0003198	Myopathy
OMIM:611881	ALDOA	226	HP:0001081	Cholelithiasis
OMIM:611881	ALDOA	226	HP:0001249	Intellectual disability
OMIM:611881	ALDOA	226	HP:0000007	Autosomal recessive inheritance
OMIM:613546	CYP19A1	1588	HP:0010458	Female pseudohermaphroditism
OMIM:613546	CYP19A1	1588	HP:0002857	Genu valgum
OMIM:613546	CYP19A1	1588	HP:0000007	Autosomal recessive inheritance
OMIM:613546	CYP19A1	1588	HP:0000144	Decreased fertility
OMIM:613546	CYP19A1	1588	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:613546	CYP19A1	1588	HP:0000138	Ovarian cyst
OMIM:613546	CYP19A1	1588	HP:0005930	Abnormality of epiphysis morphology
OMIM:613546	CYP19A1	1588	HP:0002750	Delayed skeletal maturation
OMIM:613546	CYP19A1	1588	HP:0000035	Abnormality of the testis
OMIM:613546	CYP19A1	1588	HP:0001399	Hepatic failure
OMIM:613546	CYP19A1	1588	HP:0004349	Reduced bone mineral density
OMIM:613546	CYP19A1	1588	HP:0001513	Obesity
OMIM:613546	CYP19A1	1588	HP:0000786	Primary amenorrhea
OMIM:613546	CYP19A1	1588	HP:0000815	Hypergonadotropic hypogonadism
ORPHANET:635	PHOX2B	8929	HP:0004375	Neoplasm of the nervous system
ORPHANET:635	TOP2A	7153	HP:0004375	Neoplasm of the nervous system
ORPHANET:635	MYCN	4613	HP:0004375	Neoplasm of the nervous system
ORPHANET:635	LIN28B	389421	HP:0004375	Neoplasm of the nervous system
ORPHANET:635	HACE1	57531	HP:0004375	Neoplasm of the nervous system
ORPHANET:635	ALK	238	HP:0004375	Neoplasm of the nervous system
OMIM:616145	IMPAD1	54928	HP:0000023	Inguinal hernia
OMIM:616145	IMPAD1	54928	HP:0001388	Joint laxity
OMIM:616145	IMPAD1	54928	HP:0001629	Ventricular septal defect
OMIM:616145	IMPAD1	54928	HP:0012385	Camptodactyly
OMIM:616145	IMPAD1	54928	HP:0004209	Clinodactyly of the 5th finger
OMIM:616145	IMPAD1	54928	HP:0001511	Intrauterine growth retardation
OMIM:616145	IMPAD1	54928	HP:0002623	Overriding aorta
OMIM:616145	IMPAD1	54928	HP:0001373	Joint dislocation
OMIM:616145	IMPAD1	54928	HP:0000175	Cleft palate
OMIM:616145	IMPAD1	54928	HP:0000767	Pectus excavatum
OMIM:616145	IMPAD1	54928	HP:0000347	Micrognathia
OMIM:616145	IMPAD1	54928	HP:0001651	Dextrocardia
OMIM:616145	IMPAD1	54928	HP:0000162	Glossoptosis
OMIM:616145	IMPAD1	54928	HP:0000218	High palate
OMIM:616145	IMPAD1	54928	HP:0000377	Abnormality of the pinna
OMIM:616145	IMPAD1	54928	HP:0000476	Cystic hygroma
OMIM:616145	IMPAD1	54928	HP:0000768	Pectus carinatum
OMIM:616145	IMPAD1	54928	HP:0000028	Cryptorchidism
OMIM:616145	IMPAD1	54928	HP:0001680	Coarctation of aorta
OMIM:616145	IMPAD1	54928	HP:0000954	Single transverse palmar crease
OMIM:616145	IMPAD1	54928	HP:0001762	Talipes equinovarus
OMIM:616145	IMPAD1	54928	HP:0001537	Umbilical hernia
OMIM:616145	IMPAD1	54928	HP:0001250	Seizures
OMIM:616145	IMPAD1	54928	HP:0000369	Low-set ears
OMIM:616145	IMPAD1	54928	HP:0000204	Cleft upper lip
OMIM:616145	IMPAD1	54928	HP:0000470	Short neck
OMIM:616145	IMPAD1	54928	HP:0008897	Postnatal growth retardation
OMIM:616145	IMPAD1	54928	HP:0001263	Global developmental delay
OMIM:616145	TGDS	23483	HP:0000023	Inguinal hernia
OMIM:616145	TGDS	23483	HP:0001388	Joint laxity
OMIM:616145	TGDS	23483	HP:0001629	Ventricular septal defect
OMIM:616145	TGDS	23483	HP:0012385	Camptodactyly
OMIM:616145	TGDS	23483	HP:0004209	Clinodactyly of the 5th finger
OMIM:616145	TGDS	23483	HP:0001511	Intrauterine growth retardation
OMIM:616145	TGDS	23483	HP:0002623	Overriding aorta
OMIM:616145	TGDS	23483	HP:0001373	Joint dislocation
OMIM:616145	TGDS	23483	HP:0000175	Cleft palate
OMIM:616145	TGDS	23483	HP:0000767	Pectus excavatum
OMIM:616145	TGDS	23483	HP:0000347	Micrognathia
OMIM:616145	TGDS	23483	HP:0001651	Dextrocardia
OMIM:616145	TGDS	23483	HP:0000162	Glossoptosis
OMIM:616145	TGDS	23483	HP:0000218	High palate
OMIM:616145	TGDS	23483	HP:0000377	Abnormality of the pinna
OMIM:616145	TGDS	23483	HP:0000476	Cystic hygroma
OMIM:616145	TGDS	23483	HP:0000768	Pectus carinatum
OMIM:616145	TGDS	23483	HP:0000028	Cryptorchidism
OMIM:616145	TGDS	23483	HP:0001680	Coarctation of aorta
OMIM:616145	TGDS	23483	HP:0000954	Single transverse palmar crease
OMIM:616145	TGDS	23483	HP:0001762	Talipes equinovarus
OMIM:616145	TGDS	23483	HP:0001537	Umbilical hernia
OMIM:616145	TGDS	23483	HP:0001250	Seizures
OMIM:616145	TGDS	23483	HP:0000369	Low-set ears
OMIM:616145	TGDS	23483	HP:0000204	Cleft upper lip
OMIM:616145	TGDS	23483	HP:0000470	Short neck
OMIM:616145	TGDS	23483	HP:0008897	Postnatal growth retardation
OMIM:616145	TGDS	23483	HP:0001263	Global developmental delay
OMIM:607684	NEFL	4747	HP:0000218	High palate
OMIM:607684	NEFL	4747	HP:0003376	Steppage gait
OMIM:607684	NEFL	4747	HP:0001265	Hyporeflexia
OMIM:607684	NEFL	4747	HP:0002936	Distal sensory impairment
OMIM:607684	NEFL	4747	HP:0001284	Areflexia
OMIM:607684	NEFL	4747	HP:0001761	Pes cavus
OMIM:607684	NEFL	4747	HP:0003693	Distal amyotrophy
OMIM:607684	NEFL	4747	HP:0000006	Autosomal dominant inheritance
OMIM:607684	NEFL	4747	HP:0001270	Motor delay
OMIM:607684	NEFL	4747	HP:0003431	Decreased motor nerve conduction velocity
OMIM:607684	NEFL	4747	HP:0001371	Flexion contracture
OMIM:607684	NEFL	4747	HP:0002460	Distal muscle weakness
OMIM:607684	NEFL	4747	HP:0010628	Facial palsy
OMIM:607684	NEFL	4747	HP:0001765	Hammertoe
OMIM:607684	NEFL	4747	HP:0009027	Foot dorsiflexor weakness
OMIM:607684	NEFL	4747	HP:0009025	Increased connective tissue
OMIM:607684	NEFL	4747	HP:0001178	Ulnar claw
OMIM:607684	NEFL	4747	HP:0002650	Scoliosis
OMIM:607684	NEFL	4747	HP:0000508	Ptosis
OMIM:601977	MPL	4352	HP:0000006	Autosomal dominant inheritance
OMIM:601977	MPL	4352	HP:0001428	Somatic mutation
OMIM:601977	MPL	4352	HP:0001894	Thrombocytosis
OMIM:601977	SH2B3	10019	HP:0000006	Autosomal dominant inheritance
OMIM:601977	SH2B3	10019	HP:0001428	Somatic mutation
OMIM:601977	SH2B3	10019	HP:0001894	Thrombocytosis
OMIM:601977	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:601977	TP53	7157	HP:0001428	Somatic mutation
OMIM:601977	TP53	7157	HP:0001894	Thrombocytosis
OMIM:601977	JAK2	3717	HP:0000006	Autosomal dominant inheritance
OMIM:601977	JAK2	3717	HP:0001428	Somatic mutation
OMIM:601977	JAK2	3717	HP:0001894	Thrombocytosis
OMIM:601977	TET2	54790	HP:0000006	Autosomal dominant inheritance
OMIM:601977	TET2	54790	HP:0001428	Somatic mutation
OMIM:601977	TET2	54790	HP:0001894	Thrombocytosis
OMIM:601977	THPO	7066	HP:0000006	Autosomal dominant inheritance
OMIM:601977	THPO	7066	HP:0001428	Somatic mutation
OMIM:601977	THPO	7066	HP:0001894	Thrombocytosis
OMIM:601977	CALR	811	HP:0000006	Autosomal dominant inheritance
OMIM:601977	CALR	811	HP:0001428	Somatic mutation
OMIM:601977	CALR	811	HP:0001894	Thrombocytosis
OMIM:615863	DGAT1	8694	HP:0003077	Hyperlipidemia
OMIM:615863	DGAT1	8694	HP:0002013	Vomiting
OMIM:615863	DGAT1	8694	HP:0003073	Hypoalbuminemia
OMIM:615863	DGAT1	8694	HP:0002014	Diarrhea
OMIM:176000	HMBS	3145	HP:0000020	Urinary incontinence
OMIM:176000	HMBS	3145	HP:0000083	Renal insufficiency
OMIM:176000	HMBS	3145	HP:0004374	Hemiplegia/hemiparesis
OMIM:176000	HMBS	3145	HP:0001250	Seizures
OMIM:176000	HMBS	3145	HP:0006824	Cranial nerve paralysis
OMIM:176000	HMBS	3145	HP:0003326	Myalgia
OMIM:176000	HMBS	3145	HP:0004372	Reduced consciousness/confusion
OMIM:176000	HMBS	3145	HP:0000822	Hypertension
OMIM:176000	HMBS	3145	HP:0002017	Nausea and vomiting
OMIM:176000	HMBS	3145	HP:0002018	Nausea
OMIM:176000	HMBS	3145	HP:0011675	Arrhythmia
OMIM:176000	HMBS	3145	HP:0002019	Constipation
OMIM:176000	HMBS	3145	HP:0003401	Paresthesia
OMIM:176000	HMBS	3145	HP:0003119	Abnormality of lipid metabolism
OMIM:176000	HMBS	3145	HP:0000716	Depression
OMIM:176000	HMBS	3145	HP:0100785	Insomnia
OMIM:176000	HMBS	3145	HP:0001824	Weight loss
OMIM:176000	HMBS	3145	HP:0002013	Vomiting
OMIM:176000	HMBS	3145	HP:0002039	Anorexia
OMIM:176000	HMBS	3145	HP:0000006	Autosomal dominant inheritance
OMIM:176000	HMBS	3145	HP:0000739	Anxiety
OMIM:176000	HMBS	3145	HP:0100735	Hypertensive crisis
OMIM:176000	HMBS	3145	HP:0003110	Abnormality of urine homeostasis
OMIM:176000	HMBS	3145	HP:0002027	Abdominal pain
OMIM:176000	HMBS	3145	HP:0000975	Hyperhidrosis
OMIM:176000	HMBS	3145	HP:0002829	Arthralgia
OMIM:176000	HMBS	3145	HP:0000738	Hallucinations
OMIM:176000	HMBS	3145	HP:0002014	Diarrhea
OMIM:176000	HMBS	3145	HP:0001649	Tachycardia
OMIM:615879	DNMT3A	1788	HP:0002650	Scoliosis
OMIM:615879	DNMT3A	1788	HP:0001537	Umbilical hernia
OMIM:615879	DNMT3A	1788	HP:0000311	Round face
OMIM:615879	DNMT3A	1788	HP:0000581	Blepharophimosis
OMIM:615879	DNMT3A	1788	HP:0001250	Seizures
OMIM:615879	DNMT3A	1788	HP:0001631	Atria septal defect
OMIM:615551	SCN10A	6336	HP:0003581	Adult onset
OMIM:615551	SCN10A	6336	HP:0000006	Autosomal dominant inheritance
OMIM:615551	SCN11A	11280	HP:0003581	Adult onset
OMIM:615551	SCN11A	11280	HP:0000006	Autosomal dominant inheritance
OMIM:615551	SCN9A	6335	HP:0003581	Adult onset
OMIM:615551	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:613265	EDN3	1908	HP:0000007	Autosomal recessive inheritance
OMIM:613265	EDN3	1908	HP:0002211	White forelock
OMIM:613265	EDN3	1908	HP:0001100	Heterochromia iridis
OMIM:613265	EDN3	1908	HP:0002216	Premature graying of hair
OMIM:613265	EDN3	1908	HP:0000635	Blue irides
OMIM:613265	EDN3	1908	HP:0001053	Hypopigmented skin patches
OMIM:613265	EDN3	1908	HP:0002227	White eyelashes
OMIM:613265	EDN3	1908	HP:0000407	Sensorineural hearing impairment
OMIM:613265	EDN3	1908	HP:0001425	Heterogeneous
OMIM:613265	EDN3	1908	HP:0002226	White eyebrow
OMIM:613265	EDN3	1908	HP:0000006	Autosomal dominant inheritance
OMIM:613265	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:613265	EDNRB	1910	HP:0000007	Autosomal recessive inheritance
OMIM:613265	EDNRB	1910	HP:0002211	White forelock
OMIM:613265	EDNRB	1910	HP:0001100	Heterochromia iridis
OMIM:613265	EDNRB	1910	HP:0002216	Premature graying of hair
OMIM:613265	EDNRB	1910	HP:0000635	Blue irides
OMIM:613265	EDNRB	1910	HP:0001053	Hypopigmented skin patches
OMIM:613265	EDNRB	1910	HP:0002227	White eyelashes
OMIM:613265	EDNRB	1910	HP:0000407	Sensorineural hearing impairment
OMIM:613265	EDNRB	1910	HP:0001425	Heterogeneous
OMIM:613265	EDNRB	1910	HP:0002226	White eyebrow
OMIM:613265	EDNRB	1910	HP:0000006	Autosomal dominant inheritance
OMIM:613265	EDNRB	1910	HP:0002251	Aganglionic megacolon
OMIM:613265	SOX10	6663	HP:0000007	Autosomal recessive inheritance
OMIM:613265	SOX10	6663	HP:0002211	White forelock
OMIM:613265	SOX10	6663	HP:0001100	Heterochromia iridis
OMIM:613265	SOX10	6663	HP:0002216	Premature graying of hair
OMIM:613265	SOX10	6663	HP:0000635	Blue irides
OMIM:613265	SOX10	6663	HP:0001053	Hypopigmented skin patches
OMIM:613265	SOX10	6663	HP:0002227	White eyelashes
OMIM:613265	SOX10	6663	HP:0000407	Sensorineural hearing impairment
OMIM:613265	SOX10	6663	HP:0001425	Heterogeneous
OMIM:613265	SOX10	6663	HP:0002226	White eyebrow
OMIM:613265	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:613265	SOX10	6663	HP:0002251	Aganglionic megacolon
OMIM:300291	IKBKG	8517	HP:0002721	Immunodeficiency
OMIM:300291	IKBKG	8517	HP:0001419	X-linked recessive inheritance
OMIM:300291	IKBKG	8517	HP:0002719	Recurrent infections
OMIM:300291	IKBKG	8517	HP:0000968	Ectodermal dysplasia
OMIM:300291	NFKBIA	4792	HP:0002721	Immunodeficiency
OMIM:300291	NFKBIA	4792	HP:0001419	X-linked recessive inheritance
OMIM:300291	NFKBIA	4792	HP:0002719	Recurrent infections
OMIM:300291	NFKBIA	4792	HP:0000968	Ectodermal dysplasia
OMIM:187500	GDF1	2657	HP:0000028	Cryptorchidism
OMIM:187500	GDF1	2657	HP:0005105	Abnormal nasal morphology
OMIM:187500	GDF1	2657	HP:0004467	Preauricular pit
OMIM:187500	GDF1	2657	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	GDF1	2657	HP:0000520	Proptosis
OMIM:187500	GDF1	2657	HP:0001636	Tetralogy of Fallot
OMIM:187500	GDF1	2657	HP:0000268	Dolichocephaly
OMIM:187500	GDF1	2657	HP:0000337	Broad forehead
OMIM:187500	GDF1	2657	HP:0000383	Abnormality of periauricular region
OMIM:187500	GDF1	2657	HP:0000233	Thin vermilion border
OMIM:187500	GDF1	2657	HP:0001156	Brachydactyly syndrome
OMIM:187500	GDF1	2657	HP:0001511	Intrauterine growth retardation
OMIM:187500	GDF1	2657	HP:0000006	Autosomal dominant inheritance
OMIM:187500	GDF1	2657	HP:0009891	Underdeveloped supraorbital ridges
OMIM:187500	GATA4	2626	HP:0000028	Cryptorchidism
OMIM:187500	GATA4	2626	HP:0005105	Abnormal nasal morphology
OMIM:187500	GATA4	2626	HP:0004467	Preauricular pit
OMIM:187500	GATA4	2626	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	GATA4	2626	HP:0000520	Proptosis
OMIM:187500	GATA4	2626	HP:0001636	Tetralogy of Fallot
OMIM:187500	GATA4	2626	HP:0000268	Dolichocephaly
OMIM:187500	GATA4	2626	HP:0000337	Broad forehead
OMIM:187500	GATA4	2626	HP:0000383	Abnormality of periauricular region
OMIM:187500	GATA4	2626	HP:0000233	Thin vermilion border
OMIM:187500	GATA4	2626	HP:0001156	Brachydactyly syndrome
OMIM:187500	GATA4	2626	HP:0001511	Intrauterine growth retardation
OMIM:187500	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:187500	GATA4	2626	HP:0009891	Underdeveloped supraorbital ridges
OMIM:187500	CITED2	10370	HP:0000028	Cryptorchidism
OMIM:187500	CITED2	10370	HP:0005105	Abnormal nasal morphology
OMIM:187500	CITED2	10370	HP:0004467	Preauricular pit
OMIM:187500	CITED2	10370	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	CITED2	10370	HP:0000520	Proptosis
OMIM:187500	CITED2	10370	HP:0001636	Tetralogy of Fallot
OMIM:187500	CITED2	10370	HP:0000268	Dolichocephaly
OMIM:187500	CITED2	10370	HP:0000337	Broad forehead
OMIM:187500	CITED2	10370	HP:0000383	Abnormality of periauricular region
OMIM:187500	CITED2	10370	HP:0000233	Thin vermilion border
OMIM:187500	CITED2	10370	HP:0001156	Brachydactyly syndrome
OMIM:187500	CITED2	10370	HP:0001511	Intrauterine growth retardation
OMIM:187500	CITED2	10370	HP:0000006	Autosomal dominant inheritance
OMIM:187500	CITED2	10370	HP:0009891	Underdeveloped supraorbital ridges
OMIM:187500	GATA6	2627	HP:0000028	Cryptorchidism
OMIM:187500	GATA6	2627	HP:0005105	Abnormal nasal morphology
OMIM:187500	GATA6	2627	HP:0004467	Preauricular pit
OMIM:187500	GATA6	2627	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	GATA6	2627	HP:0000520	Proptosis
OMIM:187500	GATA6	2627	HP:0001636	Tetralogy of Fallot
OMIM:187500	GATA6	2627	HP:0000268	Dolichocephaly
OMIM:187500	GATA6	2627	HP:0000337	Broad forehead
OMIM:187500	GATA6	2627	HP:0000383	Abnormality of periauricular region
OMIM:187500	GATA6	2627	HP:0000233	Thin vermilion border
OMIM:187500	GATA6	2627	HP:0001156	Brachydactyly syndrome
OMIM:187500	GATA6	2627	HP:0001511	Intrauterine growth retardation
OMIM:187500	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:187500	GATA6	2627	HP:0009891	Underdeveloped supraorbital ridges
OMIM:187500	TBX1	6899	HP:0000028	Cryptorchidism
OMIM:187500	TBX1	6899	HP:0005105	Abnormal nasal morphology
OMIM:187500	TBX1	6899	HP:0004467	Preauricular pit
OMIM:187500	TBX1	6899	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	TBX1	6899	HP:0000520	Proptosis
OMIM:187500	TBX1	6899	HP:0001636	Tetralogy of Fallot
OMIM:187500	TBX1	6899	HP:0000268	Dolichocephaly
OMIM:187500	TBX1	6899	HP:0000337	Broad forehead
OMIM:187500	TBX1	6899	HP:0000383	Abnormality of periauricular region
OMIM:187500	TBX1	6899	HP:0000233	Thin vermilion border
OMIM:187500	TBX1	6899	HP:0001156	Brachydactyly syndrome
OMIM:187500	TBX1	6899	HP:0001511	Intrauterine growth retardation
OMIM:187500	TBX1	6899	HP:0000006	Autosomal dominant inheritance
OMIM:187500	TBX1	6899	HP:0009891	Underdeveloped supraorbital ridges
OMIM:187500	NKX2-6	137814	HP:0000028	Cryptorchidism
OMIM:187500	NKX2-6	137814	HP:0005105	Abnormal nasal morphology
OMIM:187500	NKX2-6	137814	HP:0004467	Preauricular pit
OMIM:187500	NKX2-6	137814	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	NKX2-6	137814	HP:0000520	Proptosis
OMIM:187500	NKX2-6	137814	HP:0001636	Tetralogy of Fallot
OMIM:187500	NKX2-6	137814	HP:0000268	Dolichocephaly
OMIM:187500	NKX2-6	137814	HP:0000337	Broad forehead
OMIM:187500	NKX2-6	137814	HP:0000383	Abnormality of periauricular region
OMIM:187500	NKX2-6	137814	HP:0000233	Thin vermilion border
OMIM:187500	NKX2-6	137814	HP:0001156	Brachydactyly syndrome
OMIM:187500	NKX2-6	137814	HP:0001511	Intrauterine growth retardation
OMIM:187500	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:187500	NKX2-6	137814	HP:0009891	Underdeveloped supraorbital ridges
OMIM:187500	ZFPM2	23414	HP:0000028	Cryptorchidism
OMIM:187500	ZFPM2	23414	HP:0005105	Abnormal nasal morphology
OMIM:187500	ZFPM2	23414	HP:0004467	Preauricular pit
OMIM:187500	ZFPM2	23414	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	ZFPM2	23414	HP:0000520	Proptosis
OMIM:187500	ZFPM2	23414	HP:0001636	Tetralogy of Fallot
OMIM:187500	ZFPM2	23414	HP:0000268	Dolichocephaly
OMIM:187500	ZFPM2	23414	HP:0000337	Broad forehead
OMIM:187500	ZFPM2	23414	HP:0000383	Abnormality of periauricular region
OMIM:187500	ZFPM2	23414	HP:0000233	Thin vermilion border
OMIM:187500	ZFPM2	23414	HP:0001156	Brachydactyly syndrome
OMIM:187500	ZFPM2	23414	HP:0001511	Intrauterine growth retardation
OMIM:187500	ZFPM2	23414	HP:0000006	Autosomal dominant inheritance
OMIM:187500	ZFPM2	23414	HP:0009891	Underdeveloped supraorbital ridges
OMIM:187500	JAG1	182	HP:0000028	Cryptorchidism
OMIM:187500	JAG1	182	HP:0005105	Abnormal nasal morphology
OMIM:187500	JAG1	182	HP:0004467	Preauricular pit
OMIM:187500	JAG1	182	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	JAG1	182	HP:0000520	Proptosis
OMIM:187500	JAG1	182	HP:0001636	Tetralogy of Fallot
OMIM:187500	JAG1	182	HP:0000268	Dolichocephaly
OMIM:187500	JAG1	182	HP:0000337	Broad forehead
OMIM:187500	JAG1	182	HP:0000383	Abnormality of periauricular region
OMIM:187500	JAG1	182	HP:0000233	Thin vermilion border
OMIM:187500	JAG1	182	HP:0001156	Brachydactyly syndrome
OMIM:187500	JAG1	182	HP:0001511	Intrauterine growth retardation
OMIM:187500	JAG1	182	HP:0000006	Autosomal dominant inheritance
OMIM:187500	JAG1	182	HP:0009891	Underdeveloped supraorbital ridges
OMIM:187500	GATA5	140628	HP:0000028	Cryptorchidism
OMIM:187500	GATA5	140628	HP:0005105	Abnormal nasal morphology
OMIM:187500	GATA5	140628	HP:0004467	Preauricular pit
OMIM:187500	GATA5	140628	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	GATA5	140628	HP:0000520	Proptosis
OMIM:187500	GATA5	140628	HP:0001636	Tetralogy of Fallot
OMIM:187500	GATA5	140628	HP:0000268	Dolichocephaly
OMIM:187500	GATA5	140628	HP:0000337	Broad forehead
OMIM:187500	GATA5	140628	HP:0000383	Abnormality of periauricular region
OMIM:187500	GATA5	140628	HP:0000233	Thin vermilion border
OMIM:187500	GATA5	140628	HP:0001156	Brachydactyly syndrome
OMIM:187500	GATA5	140628	HP:0001511	Intrauterine growth retardation
OMIM:187500	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:187500	GATA5	140628	HP:0009891	Underdeveloped supraorbital ridges
OMIM:187500	NKX2-5	1482	HP:0000028	Cryptorchidism
OMIM:187500	NKX2-5	1482	HP:0005105	Abnormal nasal morphology
OMIM:187500	NKX2-5	1482	HP:0004467	Preauricular pit
OMIM:187500	NKX2-5	1482	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	NKX2-5	1482	HP:0000520	Proptosis
OMIM:187500	NKX2-5	1482	HP:0001636	Tetralogy of Fallot
OMIM:187500	NKX2-5	1482	HP:0000268	Dolichocephaly
OMIM:187500	NKX2-5	1482	HP:0000337	Broad forehead
OMIM:187500	NKX2-5	1482	HP:0000383	Abnormality of periauricular region
OMIM:187500	NKX2-5	1482	HP:0000233	Thin vermilion border
OMIM:187500	NKX2-5	1482	HP:0001156	Brachydactyly syndrome
OMIM:187500	NKX2-5	1482	HP:0001511	Intrauterine growth retardation
OMIM:187500	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:187500	NKX2-5	1482	HP:0009891	Underdeveloped supraorbital ridges
OMIM:187500	GJA5	2702	HP:0000028	Cryptorchidism
OMIM:187500	GJA5	2702	HP:0005105	Abnormal nasal morphology
OMIM:187500	GJA5	2702	HP:0004467	Preauricular pit
OMIM:187500	GJA5	2702	HP:0004209	Clinodactyly of the 5th finger
OMIM:187500	GJA5	2702	HP:0000520	Proptosis
OMIM:187500	GJA5	2702	HP:0001636	Tetralogy of Fallot
OMIM:187500	GJA5	2702	HP:0000268	Dolichocephaly
OMIM:187500	GJA5	2702	HP:0000337	Broad forehead
OMIM:187500	GJA5	2702	HP:0000383	Abnormality of periauricular region
OMIM:187500	GJA5	2702	HP:0000233	Thin vermilion border
OMIM:187500	GJA5	2702	HP:0001156	Brachydactyly syndrome
OMIM:187500	GJA5	2702	HP:0001511	Intrauterine growth retardation
OMIM:187500	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:187500	GJA5	2702	HP:0009891	Underdeveloped supraorbital ridges
OMIM:613690	TNNI3	7137	HP:0001638	Cardiomyopathy
OMIM:613690	TNNI3	7137	HP:0005110	Atrial fibrillation
OMIM:613690	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:613690	TNNI3	7137	HP:0001714	Ventricular hypertrophy
ORPHANET:63260	DACT1	51339	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:63260	DACT1	51339	HP:0002414	Spina bifida
ORPHANET:63260	DACT1	51339	HP:0001539	Omphalocele
ORPHANET:63260	DACT1	51339	HP:0010497	Sirenomelia
ORPHANET:63260	DACT1	51339	HP:0100589	Urogenital fistula
ORPHANET:63260	DACT1	51339	HP:0002323	Anencephaly
OMIM:614662	HSD11B1	3290	HP:0005616	Accelerated skeletal maturation
OMIM:614662	HSD11B1	3290	HP:0000956	Acanthosis nigricans
OMIM:614662	HSD11B1	3290	HP:0001513	Obesity
OMIM:614662	HSD11B1	3290	HP:0000855	Insulin resistance
OMIM:614662	HSD11B1	3290	HP:0000006	Autosomal dominant inheritance
OMIM:614662	H6PD	9563	HP:0005616	Accelerated skeletal maturation
OMIM:614662	H6PD	9563	HP:0000956	Acanthosis nigricans
OMIM:614662	H6PD	9563	HP:0001513	Obesity
OMIM:614662	H6PD	9563	HP:0000855	Insulin resistance
OMIM:614662	H6PD	9563	HP:0000006	Autosomal dominant inheritance
OMIM:600268	KRAS	3845	HP:0007440	Generalized hyperpigmentation
OMIM:600268	KRAS	3845	HP:0001510	Growth delay
OMIM:600268	KRAS	3845	HP:0000752	Hyperactivity
OMIM:600268	KRAS	3845	HP:0001252	Muscular hypotonia
OMIM:600268	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:600268	KRAS	3845	HP:0003812	Phenotypic variability
OMIM:600268	KRAS	3845	HP:0000286	Epicanthus
OMIM:600268	KRAS	3845	HP:0000486	Strabismus
OMIM:600268	KRAS	3845	HP:0001680	Coarctation of aorta
OMIM:600268	KRAS	3845	HP:0001004	Lymphedema
OMIM:600268	KRAS	3845	HP:0000625	Cleft eyelid
OMIM:600268	KRAS	3845	HP:0001561	Polyhydramnios
OMIM:600268	KRAS	3845	HP:0002251	Aganglionic megacolon
OMIM:600268	KRAS	3845	HP:0000364	Hearing abnormality
OMIM:600268	KRAS	3845	HP:0000953	Hyperpigmentation of the skin
OMIM:600268	KRAS	3845	HP:0000431	Wide nasal bridge
OMIM:600268	KRAS	3845	HP:0100627	Displacement of the external urethral meatus
OMIM:600268	KRAS	3845	HP:0005280	Depressed nasal bridge
OMIM:600268	KRAS	3845	HP:0000520	Proptosis
OMIM:600268	KRAS	3845	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:600268	KRAS	3845	HP:0001263	Global developmental delay
OMIM:600268	KRAS	3845	HP:0001626	Abnormality of the cardiovascular system
OMIM:600268	KRAS	3845	HP:0001250	Seizures
OMIM:600268	KRAS	3845	HP:0000463	Anteverted nares
OMIM:600268	KRAS	3845	HP:0001999	Abnormal facial shape
OMIM:600268	KRAS	3845	HP:0000256	Macrocephaly
OMIM:600268	KRAS	3845	HP:0001156	Brachydactyly syndrome
OMIM:600268	KRAS	3845	HP:0007759	Opacification of the corneal stroma
OMIM:600268	KRAS	3845	HP:0000483	Astigmatism
OMIM:600268	KRAS	3845	HP:0003196	Short nose
OMIM:600268	KRAS	3845	HP:0001057	Aplasia cutis congenita
OMIM:600268	KRAS	3845	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:600268	KRAS	3845	HP:0000506	Telecanthus
OMIM:600268	KRAS	3845	HP:0000581	Blepharophimosis
ORPHANET:242	SRY	6736	HP:0000035	Abnormality of the testis
ORPHANET:242	SRY	6736	HP:0000037	Male pseudohermaphroditism
ORPHANET:242	SRY	6736	HP:0000147	Polycystic ovaries
ORPHANET:242	DMRT1	1761	HP:0000035	Abnormality of the testis
ORPHANET:242	DMRT1	1761	HP:0000037	Male pseudohermaphroditism
ORPHANET:242	DMRT1	1761	HP:0000147	Polycystic ovaries
ORPHANET:242	NR5A1	2516	HP:0000035	Abnormality of the testis
ORPHANET:242	NR5A1	2516	HP:0000037	Male pseudohermaphroditism
ORPHANET:242	NR5A1	2516	HP:0000147	Polycystic ovaries
ORPHANET:242	SOX9	6662	HP:0000035	Abnormality of the testis
ORPHANET:242	SOX9	6662	HP:0000037	Male pseudohermaphroditism
ORPHANET:242	SOX9	6662	HP:0000147	Polycystic ovaries
ORPHANET:242	MAP3K1	4214	HP:0000035	Abnormality of the testis
ORPHANET:242	MAP3K1	4214	HP:0000037	Male pseudohermaphroditism
ORPHANET:242	MAP3K1	4214	HP:0000147	Polycystic ovaries
ORPHANET:242	CBX2	84733	HP:0000035	Abnormality of the testis
ORPHANET:242	CBX2	84733	HP:0000037	Male pseudohermaphroditism
ORPHANET:242	CBX2	84733	HP:0000147	Polycystic ovaries
ORPHANET:242	DHH	50846	HP:0000035	Abnormality of the testis
ORPHANET:242	DHH	50846	HP:0000037	Male pseudohermaphroditism
ORPHANET:242	DHH	50846	HP:0000147	Polycystic ovaries
ORPHANET:242	NR0B1	190	HP:0000035	Abnormality of the testis
ORPHANET:242	NR0B1	190	HP:0000037	Male pseudohermaphroditism
ORPHANET:242	NR0B1	190	HP:0000147	Polycystic ovaries
OMIM:611092	METTL23	124512	HP:0001337	Tremor
OMIM:611092	METTL23	124512	HP:0001336	Myoclonus
OMIM:611092	METTL23	124512	HP:0001332	Dystonia
OMIM:611092	METTL23	124512	HP:0001249	Intellectual disability
OMIM:611092	METTL23	124512	HP:0001250	Seizures
OMIM:611092	METTL23	124512	HP:0001263	Global developmental delay
OMIM:611092	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:611092	CRADD	8738	HP:0001337	Tremor
OMIM:611092	CRADD	8738	HP:0001336	Myoclonus
OMIM:611092	CRADD	8738	HP:0001332	Dystonia
OMIM:611092	CRADD	8738	HP:0001249	Intellectual disability
OMIM:611092	CRADD	8738	HP:0001250	Seizures
OMIM:611092	CRADD	8738	HP:0001263	Global developmental delay
OMIM:611092	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:611092	NSUN2	54888	HP:0001337	Tremor
OMIM:611092	NSUN2	54888	HP:0001336	Myoclonus
OMIM:611092	NSUN2	54888	HP:0001332	Dystonia
OMIM:611092	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:611092	NSUN2	54888	HP:0001250	Seizures
OMIM:611092	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:611092	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:611092	FMN2	56776	HP:0001337	Tremor
OMIM:611092	FMN2	56776	HP:0001336	Myoclonus
OMIM:611092	FMN2	56776	HP:0001332	Dystonia
OMIM:611092	FMN2	56776	HP:0001249	Intellectual disability
OMIM:611092	FMN2	56776	HP:0001250	Seizures
OMIM:611092	FMN2	56776	HP:0001263	Global developmental delay
OMIM:611092	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:611092	CLIP1	6249	HP:0001337	Tremor
OMIM:611092	CLIP1	6249	HP:0001336	Myoclonus
OMIM:611092	CLIP1	6249	HP:0001332	Dystonia
OMIM:611092	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:611092	CLIP1	6249	HP:0001250	Seizures
OMIM:611092	CLIP1	6249	HP:0001263	Global developmental delay
OMIM:611092	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:611092	ZC3H14	79882	HP:0001337	Tremor
OMIM:611092	ZC3H14	79882	HP:0001336	Myoclonus
OMIM:611092	ZC3H14	79882	HP:0001332	Dystonia
OMIM:611092	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:611092	ZC3H14	79882	HP:0001250	Seizures
OMIM:611092	ZC3H14	79882	HP:0001263	Global developmental delay
OMIM:611092	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:611092	PRSS12	8492	HP:0001337	Tremor
OMIM:611092	PRSS12	8492	HP:0001336	Myoclonus
OMIM:611092	PRSS12	8492	HP:0001332	Dystonia
OMIM:611092	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:611092	PRSS12	8492	HP:0001250	Seizures
OMIM:611092	PRSS12	8492	HP:0001263	Global developmental delay
OMIM:611092	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:611092	LINS1	55180	HP:0001337	Tremor
OMIM:611092	LINS1	55180	HP:0001336	Myoclonus
OMIM:611092	LINS1	55180	HP:0001332	Dystonia
OMIM:611092	LINS1	55180	HP:0001249	Intellectual disability
OMIM:611092	LINS1	55180	HP:0001250	Seizures
OMIM:611092	LINS1	55180	HP:0001263	Global developmental delay
OMIM:611092	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:611092	NDST1	3340	HP:0001337	Tremor
OMIM:611092	NDST1	3340	HP:0001336	Myoclonus
OMIM:611092	NDST1	3340	HP:0001332	Dystonia
OMIM:611092	NDST1	3340	HP:0001249	Intellectual disability
OMIM:611092	NDST1	3340	HP:0001250	Seizures
OMIM:611092	NDST1	3340	HP:0001263	Global developmental delay
OMIM:611092	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:611092	CC2D1A	54862	HP:0001337	Tremor
OMIM:611092	CC2D1A	54862	HP:0001336	Myoclonus
OMIM:611092	CC2D1A	54862	HP:0001332	Dystonia
OMIM:611092	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:611092	CC2D1A	54862	HP:0001250	Seizures
OMIM:611092	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:611092	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:611092	FBXO31	79791	HP:0001337	Tremor
OMIM:611092	FBXO31	79791	HP:0001336	Myoclonus
OMIM:611092	FBXO31	79791	HP:0001332	Dystonia
OMIM:611092	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:611092	FBXO31	79791	HP:0001250	Seizures
OMIM:611092	FBXO31	79791	HP:0001263	Global developmental delay
OMIM:611092	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:611092	CRBN	51185	HP:0001337	Tremor
OMIM:611092	CRBN	51185	HP:0001336	Myoclonus
OMIM:611092	CRBN	51185	HP:0001332	Dystonia
OMIM:611092	CRBN	51185	HP:0001249	Intellectual disability
OMIM:611092	CRBN	51185	HP:0001250	Seizures
OMIM:611092	CRBN	51185	HP:0001263	Global developmental delay
OMIM:611092	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:611092	TRAPPC9	83696	HP:0001337	Tremor
OMIM:611092	TRAPPC9	83696	HP:0001336	Myoclonus
OMIM:611092	TRAPPC9	83696	HP:0001332	Dystonia
OMIM:611092	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:611092	TRAPPC9	83696	HP:0001250	Seizures
OMIM:611092	TRAPPC9	83696	HP:0001263	Global developmental delay
OMIM:611092	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:611092	GRIK2	2898	HP:0001337	Tremor
OMIM:611092	GRIK2	2898	HP:0001336	Myoclonus
OMIM:611092	GRIK2	2898	HP:0001332	Dystonia
OMIM:611092	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:611092	GRIK2	2898	HP:0001250	Seizures
OMIM:611092	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:611092	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:611092	SLC6A17	388662	HP:0001337	Tremor
OMIM:611092	SLC6A17	388662	HP:0001336	Myoclonus
OMIM:611092	SLC6A17	388662	HP:0001332	Dystonia
OMIM:611092	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:611092	SLC6A17	388662	HP:0001250	Seizures
OMIM:611092	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:611092	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:611092	TECR	9524	HP:0001337	Tremor
OMIM:611092	TECR	9524	HP:0001336	Myoclonus
OMIM:611092	TECR	9524	HP:0001332	Dystonia
OMIM:611092	TECR	9524	HP:0001249	Intellectual disability
OMIM:611092	TECR	9524	HP:0001250	Seizures
OMIM:611092	TECR	9524	HP:0001263	Global developmental delay
OMIM:611092	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:611092	MAN1B1	11253	HP:0001337	Tremor
OMIM:611092	MAN1B1	11253	HP:0001336	Myoclonus
OMIM:611092	MAN1B1	11253	HP:0001332	Dystonia
OMIM:611092	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:611092	MAN1B1	11253	HP:0001250	Seizures
OMIM:611092	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:611092	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:611092	TUSC3	7991	HP:0001337	Tremor
OMIM:611092	TUSC3	7991	HP:0001336	Myoclonus
OMIM:611092	TUSC3	7991	HP:0001332	Dystonia
OMIM:611092	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:611092	TUSC3	7991	HP:0001250	Seizures
OMIM:611092	TUSC3	7991	HP:0001263	Global developmental delay
OMIM:611092	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:611092	ST3GAL3	6487	HP:0001337	Tremor
OMIM:611092	ST3GAL3	6487	HP:0001336	Myoclonus
OMIM:611092	ST3GAL3	6487	HP:0001332	Dystonia
OMIM:611092	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:611092	ST3GAL3	6487	HP:0001250	Seizures
OMIM:611092	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:611092	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:611092	EDC3	80153	HP:0001337	Tremor
OMIM:611092	EDC3	80153	HP:0001336	Myoclonus
OMIM:611092	EDC3	80153	HP:0001332	Dystonia
OMIM:611092	EDC3	80153	HP:0001249	Intellectual disability
OMIM:611092	EDC3	80153	HP:0001250	Seizures
OMIM:611092	EDC3	80153	HP:0001263	Global developmental delay
OMIM:611092	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:611092	MED13L	23389	HP:0001337	Tremor
OMIM:611092	MED13L	23389	HP:0001336	Myoclonus
OMIM:611092	MED13L	23389	HP:0001332	Dystonia
OMIM:611092	MED13L	23389	HP:0001249	Intellectual disability
OMIM:611092	MED13L	23389	HP:0001250	Seizures
OMIM:611092	MED13L	23389	HP:0001263	Global developmental delay
OMIM:611092	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:611092	KIAA1033	23325	HP:0001337	Tremor
OMIM:611092	KIAA1033	23325	HP:0001336	Myoclonus
OMIM:611092	KIAA1033	23325	HP:0001332	Dystonia
OMIM:611092	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:611092	KIAA1033	23325	HP:0001250	Seizures
OMIM:611092	KIAA1033	23325	HP:0001263	Global developmental delay
OMIM:611092	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:611092	MED23	9439	HP:0001337	Tremor
OMIM:611092	MED23	9439	HP:0001336	Myoclonus
OMIM:611092	MED23	9439	HP:0001332	Dystonia
OMIM:611092	MED23	9439	HP:0001249	Intellectual disability
OMIM:611092	MED23	9439	HP:0001250	Seizures
OMIM:611092	MED23	9439	HP:0001263	Global developmental delay
OMIM:611092	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:249400	NRAS	4893	HP:0001305	Dandy-Walker malformation
OMIM:249400	NRAS	4893	HP:0002269	Abnormality of neuronal migration
OMIM:249400	NRAS	4893	HP:0000708	Behavioral abnormality
OMIM:249400	NRAS	4893	HP:0002861	Melanoma
OMIM:249400	NRAS	4893	HP:0002858	Meningioma
OMIM:249400	NRAS	4893	HP:0001250	Seizures
OMIM:249400	NRAS	4893	HP:0002383	Encephalitis
OMIM:249400	NRAS	4893	HP:0006824	Cranial nerve paralysis
OMIM:249400	NRAS	4893	HP:0000995	Melanocytic nevus
OMIM:249400	NRAS	4893	HP:0000998	Hypertrichosis
OMIM:249400	NRAS	4893	HP:0100543	Cognitive impairment
OMIM:249400	NRAS	4893	HP:0008678	Renal hypoplasia/aplasia
OMIM:249400	NRAS	4893	HP:0002170	Intracranial hemorrhage
OMIM:249400	NRAS	4893	HP:0004418	Thrombophlebitis
OMIM:249400	NRAS	4893	HP:0001072	Thickened skin
OMIM:249400	NRAS	4893	HP:0000238	Hydrocephalus
OMIM:249400	NRAS	4893	HP:0007703	Abnormality of retinal pigmentation
OMIM:249400	NRAS	4893	HP:0000567	Chorioretinal coloboma
OMIM:249400	NRAS	4893	HP:0002308	Arnold-Chiari malformation
OMIM:249400	NRAS	4893	HP:0002435	Meningocele
OMIM:249400	NRAS	4893	HP:0007440	Generalized hyperpigmentation
OMIM:249400	NRAS	4893	HP:0004374	Hemiplegia/hemiparesis
OMIM:249400	NRAS	4893	HP:0001268	Mental deterioration
OMIM:249400	NRAS	4893	HP:0002353	EEG abnormality
OMIM:249400	NRAS	4893	HP:0003745	Sporadic
OMIM:249400	NRAS	4893	HP:0001522	Death in infancy
OMIM:249400	NRAS	4893	HP:0001263	Global developmental delay
OMIM:249400	NRAS	4893	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:270300	CDSN	1041	HP:0000989	Pruritus
OMIM:270300	CDSN	1041	HP:0002299	Brittle hair
OMIM:270300	CDSN	1041	HP:0003577	Congenital onset
OMIM:270300	CDSN	1041	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:270300	CDSN	1041	HP:0001806	Onycholysis
OMIM:270300	CDSN	1041	HP:0002099	Asthma
OMIM:270300	CDSN	1041	HP:0004322	Short stature
OMIM:270300	CDSN	1041	HP:0000007	Autosomal recessive inheritance
OMIM:616030	PROK2	60675	HP:0000135	Hypogonadism
OMIM:616030	PROK2	60675	HP:0000054	Micropenis
OMIM:616030	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:616030	PROK2	60675	HP:0008734	Decreased testicular size
OMIM:616030	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:616030	PROK2	60675	HP:0000458	Anosmia
OMIM:616030	PROKR2	128674	HP:0000135	Hypogonadism
OMIM:616030	PROKR2	128674	HP:0000054	Micropenis
OMIM:616030	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:616030	PROKR2	128674	HP:0008734	Decreased testicular size
OMIM:616030	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:616030	PROKR2	128674	HP:0000458	Anosmia
OMIM:616030	SEMA3A	10371	HP:0000135	Hypogonadism
OMIM:616030	SEMA3A	10371	HP:0000054	Micropenis
OMIM:616030	SEMA3A	10371	HP:0000028	Cryptorchidism
OMIM:616030	SEMA3A	10371	HP:0008734	Decreased testicular size
OMIM:616030	SEMA3A	10371	HP:0000786	Primary amenorrhea
OMIM:616030	SEMA3A	10371	HP:0000458	Anosmia
OMIM:616030	IL17RD	54756	HP:0000135	Hypogonadism
OMIM:616030	IL17RD	54756	HP:0000054	Micropenis
OMIM:616030	IL17RD	54756	HP:0000028	Cryptorchidism
OMIM:616030	IL17RD	54756	HP:0008734	Decreased testicular size
OMIM:616030	IL17RD	54756	HP:0000786	Primary amenorrhea
OMIM:616030	IL17RD	54756	HP:0000458	Anosmia
OMIM:616030	WDR11	55717	HP:0000135	Hypogonadism
OMIM:616030	WDR11	55717	HP:0000054	Micropenis
OMIM:616030	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:616030	WDR11	55717	HP:0008734	Decreased testicular size
OMIM:616030	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:616030	WDR11	55717	HP:0000458	Anosmia
OMIM:616030	SOX10	6663	HP:0000135	Hypogonadism
OMIM:616030	SOX10	6663	HP:0000054	Micropenis
OMIM:616030	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:616030	SOX10	6663	HP:0008734	Decreased testicular size
OMIM:616030	SOX10	6663	HP:0000786	Primary amenorrhea
OMIM:616030	SOX10	6663	HP:0000458	Anosmia
OMIM:616030	FEZF1	389549	HP:0000135	Hypogonadism
OMIM:616030	FEZF1	389549	HP:0000054	Micropenis
OMIM:616030	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:616030	FEZF1	389549	HP:0008734	Decreased testicular size
OMIM:616030	FEZF1	389549	HP:0000786	Primary amenorrhea
OMIM:616030	FEZF1	389549	HP:0000458	Anosmia
OMIM:616030	FGF8	2253	HP:0000135	Hypogonadism
OMIM:616030	FGF8	2253	HP:0000054	Micropenis
OMIM:616030	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:616030	FGF8	2253	HP:0008734	Decreased testicular size
OMIM:616030	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:616030	FGF8	2253	HP:0000458	Anosmia
OMIM:616030	ANOS1	3730	HP:0000135	Hypogonadism
OMIM:616030	ANOS1	3730	HP:0000054	Micropenis
OMIM:616030	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:616030	ANOS1	3730	HP:0008734	Decreased testicular size
OMIM:616030	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:616030	ANOS1	3730	HP:0000458	Anosmia
OMIM:616030	HS6ST1	9394	HP:0000135	Hypogonadism
OMIM:616030	HS6ST1	9394	HP:0000054	Micropenis
OMIM:616030	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:616030	HS6ST1	9394	HP:0008734	Decreased testicular size
OMIM:616030	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:616030	HS6ST1	9394	HP:0000458	Anosmia
OMIM:616030	CHD7	55636	HP:0000135	Hypogonadism
OMIM:616030	CHD7	55636	HP:0000054	Micropenis
OMIM:616030	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:616030	CHD7	55636	HP:0008734	Decreased testicular size
OMIM:616030	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:616030	CHD7	55636	HP:0000458	Anosmia
OMIM:616030	FGFR1	2260	HP:0000135	Hypogonadism
OMIM:616030	FGFR1	2260	HP:0000054	Micropenis
OMIM:616030	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:616030	FGFR1	2260	HP:0008734	Decreased testicular size
OMIM:616030	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:616030	FGFR1	2260	HP:0000458	Anosmia
OMIM:616030	HESX1	8820	HP:0000135	Hypogonadism
OMIM:616030	HESX1	8820	HP:0000054	Micropenis
OMIM:616030	HESX1	8820	HP:0000028	Cryptorchidism
OMIM:616030	HESX1	8820	HP:0008734	Decreased testicular size
OMIM:616030	HESX1	8820	HP:0000786	Primary amenorrhea
OMIM:616030	HESX1	8820	HP:0000458	Anosmia
OMIM:616030	TACR3	6870	HP:0000135	Hypogonadism
OMIM:616030	TACR3	6870	HP:0000054	Micropenis
OMIM:616030	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:616030	TACR3	6870	HP:0008734	Decreased testicular size
OMIM:616030	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:616030	TACR3	6870	HP:0000458	Anosmia
OMIM:616030	FGF17	8822	HP:0000135	Hypogonadism
OMIM:616030	FGF17	8822	HP:0000054	Micropenis
OMIM:616030	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:616030	FGF17	8822	HP:0008734	Decreased testicular size
OMIM:616030	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:616030	FGF17	8822	HP:0000458	Anosmia
OMIM:616030	FLRT3	23767	HP:0000135	Hypogonadism
OMIM:616030	FLRT3	23767	HP:0000054	Micropenis
OMIM:616030	FLRT3	23767	HP:0000028	Cryptorchidism
OMIM:616030	FLRT3	23767	HP:0008734	Decreased testicular size
OMIM:616030	FLRT3	23767	HP:0000786	Primary amenorrhea
OMIM:616030	FLRT3	23767	HP:0000458	Anosmia
OMIM:616030	DUSP6	1848	HP:0000135	Hypogonadism
OMIM:616030	DUSP6	1848	HP:0000054	Micropenis
OMIM:616030	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:616030	DUSP6	1848	HP:0008734	Decreased testicular size
OMIM:616030	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:616030	DUSP6	1848	HP:0000458	Anosmia
OMIM:616030	SPRY4	81848	HP:0000135	Hypogonadism
OMIM:616030	SPRY4	81848	HP:0000054	Micropenis
OMIM:616030	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:616030	SPRY4	81848	HP:0008734	Decreased testicular size
OMIM:616030	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:616030	SPRY4	81848	HP:0000458	Anosmia
OMIM:616030	KISS1R	84634	HP:0000135	Hypogonadism
OMIM:616030	KISS1R	84634	HP:0000054	Micropenis
OMIM:616030	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:616030	KISS1R	84634	HP:0008734	Decreased testicular size
OMIM:616030	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:616030	KISS1R	84634	HP:0000458	Anosmia
OMIM:616030	NSMF	26012	HP:0000135	Hypogonadism
OMIM:616030	NSMF	26012	HP:0000054	Micropenis
OMIM:616030	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:616030	NSMF	26012	HP:0008734	Decreased testicular size
OMIM:616030	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:616030	NSMF	26012	HP:0000458	Anosmia
OMIM:607554	GATA4	2626	HP:0001649	Tachycardia
OMIM:607554	GATA4	2626	HP:0001727	Thromboembolic stroke
OMIM:607554	GATA4	2626	HP:0005110	Atrial fibrillation
OMIM:607554	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:607554	GATA6	2627	HP:0001649	Tachycardia
OMIM:607554	GATA6	2627	HP:0001727	Thromboembolic stroke
OMIM:607554	GATA6	2627	HP:0005110	Atrial fibrillation
OMIM:607554	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:607554	KCNQ1	3784	HP:0001649	Tachycardia
OMIM:607554	KCNQ1	3784	HP:0001727	Thromboembolic stroke
OMIM:607554	KCNQ1	3784	HP:0005110	Atrial fibrillation
OMIM:607554	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:607554	KCNE2	9992	HP:0001649	Tachycardia
OMIM:607554	KCNE2	9992	HP:0001727	Thromboembolic stroke
OMIM:607554	KCNE2	9992	HP:0005110	Atrial fibrillation
OMIM:607554	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:607554	KCNE1	3753	HP:0001649	Tachycardia
OMIM:607554	KCNE1	3753	HP:0001727	Thromboembolic stroke
OMIM:607554	KCNE1	3753	HP:0005110	Atrial fibrillation
OMIM:607554	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:607554	NKX2-5	1482	HP:0001649	Tachycardia
OMIM:607554	NKX2-5	1482	HP:0001727	Thromboembolic stroke
OMIM:607554	NKX2-5	1482	HP:0005110	Atrial fibrillation
OMIM:607554	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:607554	ABCC9	10060	HP:0001649	Tachycardia
OMIM:607554	ABCC9	10060	HP:0001727	Thromboembolic stroke
OMIM:607554	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:607554	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:607554	GJA5	2702	HP:0001649	Tachycardia
OMIM:607554	GJA5	2702	HP:0001727	Thromboembolic stroke
OMIM:607554	GJA5	2702	HP:0005110	Atrial fibrillation
OMIM:607554	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:607554	NPPA	4878	HP:0001649	Tachycardia
OMIM:607554	NPPA	4878	HP:0001727	Thromboembolic stroke
OMIM:607554	NPPA	4878	HP:0005110	Atrial fibrillation
OMIM:607554	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:607554	KCNJ2	3759	HP:0001649	Tachycardia
OMIM:607554	KCNJ2	3759	HP:0001727	Thromboembolic stroke
OMIM:607554	KCNJ2	3759	HP:0005110	Atrial fibrillation
OMIM:607554	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:607554	NKX2-6	137814	HP:0001649	Tachycardia
OMIM:607554	NKX2-6	137814	HP:0001727	Thromboembolic stroke
OMIM:607554	NKX2-6	137814	HP:0005110	Atrial fibrillation
OMIM:607554	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:607554	GATA5	140628	HP:0001649	Tachycardia
OMIM:607554	GATA5	140628	HP:0001727	Thromboembolic stroke
OMIM:607554	GATA5	140628	HP:0005110	Atrial fibrillation
OMIM:607554	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:607554	SCN2B	6327	HP:0001649	Tachycardia
OMIM:607554	SCN2B	6327	HP:0001727	Thromboembolic stroke
OMIM:607554	SCN2B	6327	HP:0005110	Atrial fibrillation
OMIM:607554	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:607554	SCN3B	55800	HP:0001649	Tachycardia
OMIM:607554	SCN3B	55800	HP:0001727	Thromboembolic stroke
OMIM:607554	SCN3B	55800	HP:0005110	Atrial fibrillation
OMIM:607554	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:607554	SCN4B	6330	HP:0001649	Tachycardia
OMIM:607554	SCN4B	6330	HP:0001727	Thromboembolic stroke
OMIM:607554	SCN4B	6330	HP:0005110	Atrial fibrillation
OMIM:607554	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:607554	SCN5A	6331	HP:0001649	Tachycardia
OMIM:607554	SCN5A	6331	HP:0001727	Thromboembolic stroke
OMIM:607554	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:607554	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:607554	PITX2	5308	HP:0001649	Tachycardia
OMIM:607554	PITX2	5308	HP:0001727	Thromboembolic stroke
OMIM:607554	PITX2	5308	HP:0005110	Atrial fibrillation
OMIM:607554	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:607554	KCNA5	3741	HP:0001649	Tachycardia
OMIM:607554	KCNA5	3741	HP:0001727	Thromboembolic stroke
OMIM:607554	KCNA5	3741	HP:0005110	Atrial fibrillation
OMIM:607554	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
OMIM:607554	NUP155	9631	HP:0001649	Tachycardia
OMIM:607554	NUP155	9631	HP:0001727	Thromboembolic stroke
OMIM:607554	NUP155	9631	HP:0005110	Atrial fibrillation
OMIM:607554	NUP155	9631	HP:0000006	Autosomal dominant inheritance
OMIM:613956	IL17RC	84818	HP:0000006	Autosomal dominant inheritance
OMIM:613956	IL17RC	84818	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613956	STAT1	6772	HP:0000006	Autosomal dominant inheritance
OMIM:613956	STAT1	6772	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613956	CLEC7A	64581	HP:0000006	Autosomal dominant inheritance
OMIM:613956	CLEC7A	64581	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613956	IL17RA	23765	HP:0000006	Autosomal dominant inheritance
OMIM:613956	IL17RA	23765	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613956	TRAF3IP2	10758	HP:0000006	Autosomal dominant inheritance
OMIM:613956	TRAF3IP2	10758	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613956	IL17F	112744	HP:0000006	Autosomal dominant inheritance
OMIM:613956	IL17F	112744	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:613956	CARD9	64170	HP:0000006	Autosomal dominant inheritance
OMIM:613956	CARD9	64170	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:259450	PLOD2	5352	HP:0001388	Joint laxity
OMIM:259450	PLOD2	5352	HP:0000007	Autosomal recessive inheritance
OMIM:259450	PLOD2	5352	HP:0002659	Increased susceptibility to fractures
OMIM:259450	PLOD2	5352	HP:0002808	Kyphosis
OMIM:259450	PLOD2	5352	HP:0003273	Hip contracture
OMIM:259450	PLOD2	5352	HP:0004322	Short stature
OMIM:259450	PLOD2	5352	HP:0006380	Knee flexion contracture
OMIM:259450	PLOD2	5352	HP:0006466	Ankle contracture
OMIM:259450	PLOD2	5352	HP:0001762	Talipes equinovarus
OMIM:259450	PLOD2	5352	HP:0000768	Pectus carinatum
OMIM:259450	PLOD2	5352	HP:0000926	Platyspondyly
OMIM:259450	PLOD2	5352	HP:0000939	Osteoporosis
OMIM:259450	PLOD2	5352	HP:0002812	Coxa vara
OMIM:259450	PLOD2	5352	HP:0002650	Scoliosis
OMIM:259450	PLOD2	5352	HP:0002987	Elbow flexion contracture
OMIM:259450	FKBP10	60681	HP:0001388	Joint laxity
OMIM:259450	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:259450	FKBP10	60681	HP:0002659	Increased susceptibility to fractures
OMIM:259450	FKBP10	60681	HP:0002808	Kyphosis
OMIM:259450	FKBP10	60681	HP:0003273	Hip contracture
OMIM:259450	FKBP10	60681	HP:0004322	Short stature
OMIM:259450	FKBP10	60681	HP:0006380	Knee flexion contracture
OMIM:259450	FKBP10	60681	HP:0006466	Ankle contracture
OMIM:259450	FKBP10	60681	HP:0001762	Talipes equinovarus
OMIM:259450	FKBP10	60681	HP:0000768	Pectus carinatum
OMIM:259450	FKBP10	60681	HP:0000926	Platyspondyly
OMIM:259450	FKBP10	60681	HP:0000939	Osteoporosis
OMIM:259450	FKBP10	60681	HP:0002812	Coxa vara
OMIM:259450	FKBP10	60681	HP:0002650	Scoliosis
OMIM:259450	FKBP10	60681	HP:0002987	Elbow flexion contracture
OMIM:613826	AIPL1	23746	HP:0000563	Keratoconus
OMIM:613826	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:613826	AIPL1	23746	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	AIPL1	23746	HP:0000550	Undetectable electroretinogram
OMIM:613826	AIPL1	23746	HP:0000613	Photophobia
OMIM:613826	AIPL1	23746	HP:0012043	Pendular nystagmus
OMIM:613826	AIPL1	23746	HP:0008499	High-grade hypermetropia
OMIM:613826	AIPL1	23746	HP:0000518	Cataract
OMIM:613826	AIPL1	23746	HP:0001141	Severe visual impairment
OMIM:613826	NMNAT1	64802	HP:0000563	Keratoconus
OMIM:613826	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:613826	NMNAT1	64802	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	NMNAT1	64802	HP:0000550	Undetectable electroretinogram
OMIM:613826	NMNAT1	64802	HP:0000613	Photophobia
OMIM:613826	NMNAT1	64802	HP:0012043	Pendular nystagmus
OMIM:613826	NMNAT1	64802	HP:0008499	High-grade hypermetropia
OMIM:613826	NMNAT1	64802	HP:0000518	Cataract
OMIM:613826	NMNAT1	64802	HP:0001141	Severe visual impairment
OMIM:613826	SPATA7	55812	HP:0000563	Keratoconus
OMIM:613826	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613826	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	SPATA7	55812	HP:0000550	Undetectable electroretinogram
OMIM:613826	SPATA7	55812	HP:0000613	Photophobia
OMIM:613826	SPATA7	55812	HP:0012043	Pendular nystagmus
OMIM:613826	SPATA7	55812	HP:0008499	High-grade hypermetropia
OMIM:613826	SPATA7	55812	HP:0000518	Cataract
OMIM:613826	SPATA7	55812	HP:0001141	Severe visual impairment
OMIM:613826	RPGRIP1	57096	HP:0000563	Keratoconus
OMIM:613826	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:613826	RPGRIP1	57096	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	RPGRIP1	57096	HP:0000550	Undetectable electroretinogram
OMIM:613826	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:613826	RPGRIP1	57096	HP:0012043	Pendular nystagmus
OMIM:613826	RPGRIP1	57096	HP:0008499	High-grade hypermetropia
OMIM:613826	RPGRIP1	57096	HP:0000518	Cataract
OMIM:613826	RPGRIP1	57096	HP:0001141	Severe visual impairment
OMIM:613826	RDH12	145226	HP:0000563	Keratoconus
OMIM:613826	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613826	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	RDH12	145226	HP:0000550	Undetectable electroretinogram
OMIM:613826	RDH12	145226	HP:0000613	Photophobia
OMIM:613826	RDH12	145226	HP:0012043	Pendular nystagmus
OMIM:613826	RDH12	145226	HP:0008499	High-grade hypermetropia
OMIM:613826	RDH12	145226	HP:0000518	Cataract
OMIM:613826	RDH12	145226	HP:0001141	Severe visual impairment
OMIM:613826	RPE65	6121	HP:0000563	Keratoconus
OMIM:613826	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613826	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	RPE65	6121	HP:0000550	Undetectable electroretinogram
OMIM:613826	RPE65	6121	HP:0000613	Photophobia
OMIM:613826	RPE65	6121	HP:0012043	Pendular nystagmus
OMIM:613826	RPE65	6121	HP:0008499	High-grade hypermetropia
OMIM:613826	RPE65	6121	HP:0000518	Cataract
OMIM:613826	RPE65	6121	HP:0001141	Severe visual impairment
OMIM:613826	LCA5	167691	HP:0000563	Keratoconus
OMIM:613826	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:613826	LCA5	167691	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	LCA5	167691	HP:0000550	Undetectable electroretinogram
OMIM:613826	LCA5	167691	HP:0000613	Photophobia
OMIM:613826	LCA5	167691	HP:0012043	Pendular nystagmus
OMIM:613826	LCA5	167691	HP:0008499	High-grade hypermetropia
OMIM:613826	LCA5	167691	HP:0000518	Cataract
OMIM:613826	LCA5	167691	HP:0001141	Severe visual impairment
OMIM:613826	LRAT	9227	HP:0000563	Keratoconus
OMIM:613826	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613826	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	LRAT	9227	HP:0000550	Undetectable electroretinogram
OMIM:613826	LRAT	9227	HP:0000613	Photophobia
OMIM:613826	LRAT	9227	HP:0012043	Pendular nystagmus
OMIM:613826	LRAT	9227	HP:0008499	High-grade hypermetropia
OMIM:613826	LRAT	9227	HP:0000518	Cataract
OMIM:613826	LRAT	9227	HP:0001141	Severe visual impairment
OMIM:613826	IFT140	9742	HP:0000563	Keratoconus
OMIM:613826	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613826	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	IFT140	9742	HP:0000550	Undetectable electroretinogram
OMIM:613826	IFT140	9742	HP:0000613	Photophobia
OMIM:613826	IFT140	9742	HP:0012043	Pendular nystagmus
OMIM:613826	IFT140	9742	HP:0008499	High-grade hypermetropia
OMIM:613826	IFT140	9742	HP:0000518	Cataract
OMIM:613826	IFT140	9742	HP:0001141	Severe visual impairment
OMIM:613826	TULP1	7287	HP:0000563	Keratoconus
OMIM:613826	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613826	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	TULP1	7287	HP:0000550	Undetectable electroretinogram
OMIM:613826	TULP1	7287	HP:0000613	Photophobia
OMIM:613826	TULP1	7287	HP:0012043	Pendular nystagmus
OMIM:613826	TULP1	7287	HP:0008499	High-grade hypermetropia
OMIM:613826	TULP1	7287	HP:0000518	Cataract
OMIM:613826	TULP1	7287	HP:0001141	Severe visual impairment
OMIM:613826	GUCY2D	3000	HP:0000563	Keratoconus
OMIM:613826	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:613826	GUCY2D	3000	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	GUCY2D	3000	HP:0000550	Undetectable electroretinogram
OMIM:613826	GUCY2D	3000	HP:0000613	Photophobia
OMIM:613826	GUCY2D	3000	HP:0012043	Pendular nystagmus
OMIM:613826	GUCY2D	3000	HP:0008499	High-grade hypermetropia
OMIM:613826	GUCY2D	3000	HP:0000518	Cataract
OMIM:613826	GUCY2D	3000	HP:0001141	Severe visual impairment
OMIM:613826	CEP290	80184	HP:0000563	Keratoconus
OMIM:613826	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:613826	CEP290	80184	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	CEP290	80184	HP:0000550	Undetectable electroretinogram
OMIM:613826	CEP290	80184	HP:0000613	Photophobia
OMIM:613826	CEP290	80184	HP:0012043	Pendular nystagmus
OMIM:613826	CEP290	80184	HP:0008499	High-grade hypermetropia
OMIM:613826	CEP290	80184	HP:0000518	Cataract
OMIM:613826	CEP290	80184	HP:0001141	Severe visual impairment
OMIM:613826	IQCB1	9657	HP:0000563	Keratoconus
OMIM:613826	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:613826	IQCB1	9657	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	IQCB1	9657	HP:0000550	Undetectable electroretinogram
OMIM:613826	IQCB1	9657	HP:0000613	Photophobia
OMIM:613826	IQCB1	9657	HP:0012043	Pendular nystagmus
OMIM:613826	IQCB1	9657	HP:0008499	High-grade hypermetropia
OMIM:613826	IQCB1	9657	HP:0000518	Cataract
OMIM:613826	IQCB1	9657	HP:0001141	Severe visual impairment
OMIM:613826	KCNJ13	3769	HP:0000563	Keratoconus
OMIM:613826	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:613826	KCNJ13	3769	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	KCNJ13	3769	HP:0000550	Undetectable electroretinogram
OMIM:613826	KCNJ13	3769	HP:0000613	Photophobia
OMIM:613826	KCNJ13	3769	HP:0012043	Pendular nystagmus
OMIM:613826	KCNJ13	3769	HP:0008499	High-grade hypermetropia
OMIM:613826	KCNJ13	3769	HP:0000518	Cataract
OMIM:613826	KCNJ13	3769	HP:0001141	Severe visual impairment
OMIM:613826	CRB1	23418	HP:0000563	Keratoconus
OMIM:613826	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613826	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	CRB1	23418	HP:0000550	Undetectable electroretinogram
OMIM:613826	CRB1	23418	HP:0000613	Photophobia
OMIM:613826	CRB1	23418	HP:0012043	Pendular nystagmus
OMIM:613826	CRB1	23418	HP:0008499	High-grade hypermetropia
OMIM:613826	CRB1	23418	HP:0000518	Cataract
OMIM:613826	CRB1	23418	HP:0001141	Severe visual impairment
OMIM:613826	GDF6	392255	HP:0000563	Keratoconus
OMIM:613826	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:613826	GDF6	392255	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	GDF6	392255	HP:0000550	Undetectable electroretinogram
OMIM:613826	GDF6	392255	HP:0000613	Photophobia
OMIM:613826	GDF6	392255	HP:0012043	Pendular nystagmus
OMIM:613826	GDF6	392255	HP:0008499	High-grade hypermetropia
OMIM:613826	GDF6	392255	HP:0000518	Cataract
OMIM:613826	GDF6	392255	HP:0001141	Severe visual impairment
OMIM:613826	RD3	343035	HP:0000563	Keratoconus
OMIM:613826	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:613826	RD3	343035	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	RD3	343035	HP:0000550	Undetectable electroretinogram
OMIM:613826	RD3	343035	HP:0000613	Photophobia
OMIM:613826	RD3	343035	HP:0012043	Pendular nystagmus
OMIM:613826	RD3	343035	HP:0008499	High-grade hypermetropia
OMIM:613826	RD3	343035	HP:0000518	Cataract
OMIM:613826	RD3	343035	HP:0001141	Severe visual impairment
OMIM:613826	CRX	1406	HP:0000563	Keratoconus
OMIM:613826	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613826	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	CRX	1406	HP:0000550	Undetectable electroretinogram
OMIM:613826	CRX	1406	HP:0000613	Photophobia
OMIM:613826	CRX	1406	HP:0012043	Pendular nystagmus
OMIM:613826	CRX	1406	HP:0008499	High-grade hypermetropia
OMIM:613826	CRX	1406	HP:0000518	Cataract
OMIM:613826	CRX	1406	HP:0001141	Severe visual impairment
OMIM:613826	IMPDH1	3614	HP:0000563	Keratoconus
OMIM:613826	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613826	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:613826	IMPDH1	3614	HP:0000550	Undetectable electroretinogram
OMIM:613826	IMPDH1	3614	HP:0000613	Photophobia
OMIM:613826	IMPDH1	3614	HP:0012043	Pendular nystagmus
OMIM:613826	IMPDH1	3614	HP:0008499	High-grade hypermetropia
OMIM:613826	IMPDH1	3614	HP:0000518	Cataract
OMIM:613826	IMPDH1	3614	HP:0001141	Severe visual impairment
OMIM:300215	ARX	170302	HP:0001339	Lissencephaly
OMIM:300215	ARX	170302	HP:0100543	Cognitive impairment
OMIM:300215	ARX	170302	HP:0000062	Ambiguous genitalia
OMIM:300215	ARX	170302	HP:0000218	High palate
OMIM:300215	ARX	170302	HP:0001328	Specific learning disability
OMIM:300215	ARX	170302	HP:0002119	Ventriculomegaly
OMIM:300215	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300215	ARX	170302	HP:0001250	Seizures
OMIM:300215	ARX	170302	HP:0008736	Hypoplasia of penis
OMIM:300215	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:300215	ARX	170302	HP:0008872	Feeding difficulties in infancy
OMIM:300215	ARX	170302	HP:0000343	Long philtrum
OMIM:300215	ARX	170302	HP:0000431	Wide nasal bridge
OMIM:300215	ARX	170302	HP:0002007	Frontal bossing
OMIM:300215	ARX	170302	HP:0011344	Severe global developmental delay
OMIM:300215	ARX	170302	HP:0000219	Thin upper lip vermilion
OMIM:300215	ARX	170302	HP:0002014	Diarrhea
OMIM:300215	ARX	170302	HP:0000347	Micrognathia
OMIM:300215	ARX	170302	HP:0000054	Micropenis
OMIM:300215	ARX	170302	HP:0001276	Hypertonia
OMIM:300215	ARX	170302	HP:0000966	Hypohidrosis
OMIM:300215	ARX	170302	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:300215	ARX	170302	HP:0000252	Microcephaly
OMIM:300215	ARX	170302	HP:0000348	High forehead
OMIM:300215	ARX	170302	HP:0009921	Duane anomaly
OMIM:300215	ARX	170302	HP:0001643	Patent ductus arteriosus
OMIM:300215	ARX	170302	HP:0000028	Cryptorchidism
OMIM:300215	ARX	170302	HP:0002171	Gliosis
OMIM:300215	ARX	170302	HP:0001257	Spasticity
OMIM:300215	ARX	170302	HP:0001274	Agenesis of corpus callosum
OMIM:300215	ARX	170302	HP:0002024	Malabsorption
OMIM:300215	ARX	170302	HP:0008734	Decreased testicular size
OMIM:300215	ARX	170302	HP:0000369	Low-set ears
OMIM:300215	ARX	170302	HP:0002251	Aganglionic megacolon
OMIM:300215	ARX	170302	HP:0000426	Prominent nasal bridge
OMIM:300215	ARX	170302	HP:0011341	Long upper lip
OMIM:300215	ARX	170302	HP:0001302	Pachygyria
OMIM:300215	ARX	170302	HP:0002269	Abnormality of neuronal migration
OMIM:300215	ARX	170302	HP:0001347	Hyperreflexia
OMIM:300215	ARX	170302	HP:0001629	Ventricular septal defect
OMIM:608033	RANBP2	5903	HP:0000006	Autosomal dominant inheritance
OMIM:608033	RANBP2	5903	HP:0003593	Infantile onset
OMIM:608033	RANBP2	5903	HP:0002445	Tetraplegia
OMIM:608033	RANBP2	5903	HP:0001276	Hypertonia
OMIM:608033	RANBP2	5903	HP:0003829	Incomplete penetrance
OMIM:608033	RANBP2	5903	HP:0002090	Pneumonia
OMIM:608033	RANBP2	5903	HP:0002181	Cerebral edema
OMIM:608033	RANBP2	5903	HP:0002922	Increased CSF protein
OMIM:608033	RANBP2	5903	HP:0001250	Seizures
OMIM:608033	RANBP2	5903	HP:0002171	Gliosis
OMIM:608033	RANBP2	5903	HP:0001259	Coma
OMIM:608033	RANBP2	5903	HP:0001298	Encephalopathy
OMIM:608033	RANBP2	5903	HP:0002510	Spastic tetraplegia
OMIM:127000	FAM111A	63901	HP:0000006	Autosomal dominant inheritance
OMIM:127000	FAM111A	63901	HP:0001518	Small for gestational age
OMIM:127000	FAM111A	63901	HP:0001250	Seizures
OMIM:127000	FAM111A	63901	HP:0000568	Microphthalmia
OMIM:127000	FAM111A	63901	HP:0003510	Severe short stature
OMIM:127000	FAM111A	63901	HP:0000829	Hypoparathyroidism
OMIM:127000	FAM111A	63901	HP:0001620	High pitched voice
OMIM:127000	FAM111A	63901	HP:0001903	Anemia
OMIM:127000	FAM111A	63901	HP:0004322	Short stature
OMIM:127000	FAM111A	63901	HP:0002135	Basal ganglia calcification
OMIM:127000	FAM111A	63901	HP:0000519	Congenital cataract
OMIM:127000	FAM111A	63901	HP:0002901	Hypocalcemia
OMIM:127000	FAM111A	63901	HP:0011220	Prominent forehead
OMIM:127000	FAM111A	63901	HP:0000540	Hypermetropia
OMIM:127000	FAM111A	63901	HP:0000256	Macrocephaly
OMIM:127000	FAM111A	63901	HP:0011001	Increased bone mineral density
OMIM:608194	AIPL1	23746	HP:0000608	Macular degeneration
OMIM:608194	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:608194	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:608194	AIPL1	23746	HP:0000613	Photophobia
OMIM:608194	AIPL1	23746	HP:0000505	Visual impairment
OMIM:608194	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	AIPL1	23746	HP:0000551	Abnormality of color vision
OMIM:608194	AIPL1	23746	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	PITPNM3	83394	HP:0000608	Macular degeneration
OMIM:608194	PITPNM3	83394	HP:0007663	Reduced visual acuity
OMIM:608194	PITPNM3	83394	HP:0000007	Autosomal recessive inheritance
OMIM:608194	PITPNM3	83394	HP:0000613	Photophobia
OMIM:608194	PITPNM3	83394	HP:0000505	Visual impairment
OMIM:608194	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	PITPNM3	83394	HP:0000551	Abnormality of color vision
OMIM:608194	PITPNM3	83394	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	OPN1LW	5956	HP:0000608	Macular degeneration
OMIM:608194	OPN1LW	5956	HP:0007663	Reduced visual acuity
OMIM:608194	OPN1LW	5956	HP:0000007	Autosomal recessive inheritance
OMIM:608194	OPN1LW	5956	HP:0000613	Photophobia
OMIM:608194	OPN1LW	5956	HP:0000505	Visual impairment
OMIM:608194	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	OPN1LW	5956	HP:0000551	Abnormality of color vision
OMIM:608194	OPN1LW	5956	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	UNC119	9094	HP:0000608	Macular degeneration
OMIM:608194	UNC119	9094	HP:0007663	Reduced visual acuity
OMIM:608194	UNC119	9094	HP:0000007	Autosomal recessive inheritance
OMIM:608194	UNC119	9094	HP:0000613	Photophobia
OMIM:608194	UNC119	9094	HP:0000505	Visual impairment
OMIM:608194	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	UNC119	9094	HP:0000551	Abnormality of color vision
OMIM:608194	UNC119	9094	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	RPGRIP1	57096	HP:0000608	Macular degeneration
OMIM:608194	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:608194	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:608194	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:608194	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:608194	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	RPGRIP1	57096	HP:0000551	Abnormality of color vision
OMIM:608194	RPGRIP1	57096	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	PRPH2	5961	HP:0000608	Macular degeneration
OMIM:608194	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:608194	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:608194	PRPH2	5961	HP:0000613	Photophobia
OMIM:608194	PRPH2	5961	HP:0000505	Visual impairment
OMIM:608194	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	PRPH2	5961	HP:0000551	Abnormality of color vision
OMIM:608194	PRPH2	5961	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	CACNA1F	778	HP:0000608	Macular degeneration
OMIM:608194	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:608194	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:608194	CACNA1F	778	HP:0000613	Photophobia
OMIM:608194	CACNA1F	778	HP:0000505	Visual impairment
OMIM:608194	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	CACNA1F	778	HP:0000551	Abnormality of color vision
OMIM:608194	CACNA1F	778	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	PROM1	8842	HP:0000608	Macular degeneration
OMIM:608194	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:608194	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:608194	PROM1	8842	HP:0000613	Photophobia
OMIM:608194	PROM1	8842	HP:0000505	Visual impairment
OMIM:608194	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	PROM1	8842	HP:0000551	Abnormality of color vision
OMIM:608194	PROM1	8842	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	DRAM2	128338	HP:0000608	Macular degeneration
OMIM:608194	DRAM2	128338	HP:0007663	Reduced visual acuity
OMIM:608194	DRAM2	128338	HP:0000007	Autosomal recessive inheritance
OMIM:608194	DRAM2	128338	HP:0000613	Photophobia
OMIM:608194	DRAM2	128338	HP:0000505	Visual impairment
OMIM:608194	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	DRAM2	128338	HP:0000551	Abnormality of color vision
OMIM:608194	DRAM2	128338	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	CACNA2D4	93589	HP:0000608	Macular degeneration
OMIM:608194	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:608194	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:608194	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:608194	CACNA2D4	93589	HP:0000505	Visual impairment
OMIM:608194	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	CACNA2D4	93589	HP:0000551	Abnormality of color vision
OMIM:608194	CACNA2D4	93589	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	RAB28	9364	HP:0000608	Macular degeneration
OMIM:608194	RAB28	9364	HP:0007663	Reduced visual acuity
OMIM:608194	RAB28	9364	HP:0000007	Autosomal recessive inheritance
OMIM:608194	RAB28	9364	HP:0000613	Photophobia
OMIM:608194	RAB28	9364	HP:0000505	Visual impairment
OMIM:608194	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	RAB28	9364	HP:0000551	Abnormality of color vision
OMIM:608194	RAB28	9364	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	RIMS1	22999	HP:0000608	Macular degeneration
OMIM:608194	RIMS1	22999	HP:0007663	Reduced visual acuity
OMIM:608194	RIMS1	22999	HP:0000007	Autosomal recessive inheritance
OMIM:608194	RIMS1	22999	HP:0000613	Photophobia
OMIM:608194	RIMS1	22999	HP:0000505	Visual impairment
OMIM:608194	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	RIMS1	22999	HP:0000551	Abnormality of color vision
OMIM:608194	RIMS1	22999	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	RPGR	6103	HP:0000608	Macular degeneration
OMIM:608194	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:608194	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:608194	RPGR	6103	HP:0000613	Photophobia
OMIM:608194	RPGR	6103	HP:0000505	Visual impairment
OMIM:608194	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	RPGR	6103	HP:0000551	Abnormality of color vision
OMIM:608194	RPGR	6103	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	ABCA4	24	HP:0000608	Macular degeneration
OMIM:608194	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:608194	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:608194	ABCA4	24	HP:0000613	Photophobia
OMIM:608194	ABCA4	24	HP:0000505	Visual impairment
OMIM:608194	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	ABCA4	24	HP:0000551	Abnormality of color vision
OMIM:608194	ABCA4	24	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	SEMA4A	64218	HP:0000608	Macular degeneration
OMIM:608194	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:608194	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:608194	SEMA4A	64218	HP:0000613	Photophobia
OMIM:608194	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:608194	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	SEMA4A	64218	HP:0000551	Abnormality of color vision
OMIM:608194	SEMA4A	64218	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	C8ORF37	157657	HP:0000608	Macular degeneration
OMIM:608194	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:608194	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:608194	C8ORF37	157657	HP:0000613	Photophobia
OMIM:608194	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:608194	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	C8ORF37	157657	HP:0000551	Abnormality of color vision
OMIM:608194	C8ORF37	157657	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	OPN1MW	2652	HP:0000608	Macular degeneration
OMIM:608194	OPN1MW	2652	HP:0007663	Reduced visual acuity
OMIM:608194	OPN1MW	2652	HP:0000007	Autosomal recessive inheritance
OMIM:608194	OPN1MW	2652	HP:0000613	Photophobia
OMIM:608194	OPN1MW	2652	HP:0000505	Visual impairment
OMIM:608194	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	OPN1MW	2652	HP:0000551	Abnormality of color vision
OMIM:608194	OPN1MW	2652	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	GUCA1A	2978	HP:0000608	Macular degeneration
OMIM:608194	GUCA1A	2978	HP:0007663	Reduced visual acuity
OMIM:608194	GUCA1A	2978	HP:0000007	Autosomal recessive inheritance
OMIM:608194	GUCA1A	2978	HP:0000613	Photophobia
OMIM:608194	GUCA1A	2978	HP:0000505	Visual impairment
OMIM:608194	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	GUCA1A	2978	HP:0000551	Abnormality of color vision
OMIM:608194	GUCA1A	2978	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	RAX2	84839	HP:0000608	Macular degeneration
OMIM:608194	RAX2	84839	HP:0007663	Reduced visual acuity
OMIM:608194	RAX2	84839	HP:0000007	Autosomal recessive inheritance
OMIM:608194	RAX2	84839	HP:0000613	Photophobia
OMIM:608194	RAX2	84839	HP:0000505	Visual impairment
OMIM:608194	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	RAX2	84839	HP:0000551	Abnormality of color vision
OMIM:608194	RAX2	84839	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	CNGA3	1261	HP:0000608	Macular degeneration
OMIM:608194	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:608194	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:608194	CNGA3	1261	HP:0000613	Photophobia
OMIM:608194	CNGA3	1261	HP:0000505	Visual impairment
OMIM:608194	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	CNGA3	1261	HP:0000551	Abnormality of color vision
OMIM:608194	CNGA3	1261	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	ADAM9	8754	HP:0000608	Macular degeneration
OMIM:608194	ADAM9	8754	HP:0007663	Reduced visual acuity
OMIM:608194	ADAM9	8754	HP:0000007	Autosomal recessive inheritance
OMIM:608194	ADAM9	8754	HP:0000613	Photophobia
OMIM:608194	ADAM9	8754	HP:0000505	Visual impairment
OMIM:608194	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	ADAM9	8754	HP:0000551	Abnormality of color vision
OMIM:608194	ADAM9	8754	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	CDHR1	92211	HP:0000608	Macular degeneration
OMIM:608194	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:608194	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:608194	CDHR1	92211	HP:0000613	Photophobia
OMIM:608194	CDHR1	92211	HP:0000505	Visual impairment
OMIM:608194	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	CDHR1	92211	HP:0000551	Abnormality of color vision
OMIM:608194	CDHR1	92211	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	TTLL5	23093	HP:0000608	Macular degeneration
OMIM:608194	TTLL5	23093	HP:0007663	Reduced visual acuity
OMIM:608194	TTLL5	23093	HP:0000007	Autosomal recessive inheritance
OMIM:608194	TTLL5	23093	HP:0000613	Photophobia
OMIM:608194	TTLL5	23093	HP:0000505	Visual impairment
OMIM:608194	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	TTLL5	23093	HP:0000551	Abnormality of color vision
OMIM:608194	TTLL5	23093	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	GUCY2D	3000	HP:0000608	Macular degeneration
OMIM:608194	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:608194	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:608194	GUCY2D	3000	HP:0000613	Photophobia
OMIM:608194	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:608194	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	GUCY2D	3000	HP:0000551	Abnormality of color vision
OMIM:608194	GUCY2D	3000	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	POC1B	282809	HP:0000608	Macular degeneration
OMIM:608194	POC1B	282809	HP:0007663	Reduced visual acuity
OMIM:608194	POC1B	282809	HP:0000007	Autosomal recessive inheritance
OMIM:608194	POC1B	282809	HP:0000613	Photophobia
OMIM:608194	POC1B	282809	HP:0000505	Visual impairment
OMIM:608194	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	POC1B	282809	HP:0000551	Abnormality of color vision
OMIM:608194	POC1B	282809	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608194	CRX	1406	HP:0000608	Macular degeneration
OMIM:608194	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:608194	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:608194	CRX	1406	HP:0000613	Photophobia
OMIM:608194	CRX	1406	HP:0000505	Visual impairment
OMIM:608194	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:608194	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:608194	CRX	1406	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:606407	SLC3A1	6519	HP:0002007	Frontal bossing
OMIM:606407	SLC3A1	6519	HP:0000268	Dolichocephaly
OMIM:606407	SLC3A1	6519	HP:0008872	Feeding difficulties in infancy
OMIM:606407	SLC3A1	6519	HP:0000824	Growth hormone deficiency
OMIM:606407	SLC3A1	6519	HP:0000400	Macrotia
OMIM:606407	SLC3A1	6519	HP:0000527	Long eyelashes
OMIM:606407	SLC3A1	6519	HP:0001557	Prenatal movement abnormality
OMIM:606407	SLC3A1	6519	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:606407	SLC3A1	6519	HP:0000508	Ptosis
OMIM:606407	SLC3A1	6519	HP:0003128	Lactic acidosis
OMIM:606407	SLC3A1	6519	HP:0002167	Neurological speech impairment
OMIM:606407	SLC3A1	6519	HP:0001611	Nasal speech
OMIM:606407	SLC3A1	6519	HP:0000368	Low-set, posteriorly rotated ears
OMIM:606407	SLC3A1	6519	HP:0001608	Abnormality of the voice
OMIM:606407	SLC3A1	6519	HP:0005280	Depressed nasal bridge
OMIM:606407	SLC3A1	6519	HP:0010864	Intellectual disability, severe
OMIM:606407	SLC3A1	6519	HP:0000815	Hypergonadotropic hypogonadism
OMIM:606407	SLC3A1	6519	HP:0001508	Failure to thrive
OMIM:606407	SLC3A1	6519	HP:0000078	Abnormality of the genital system
OMIM:606407	SLC3A1	6519	HP:0000347	Micrognathia
OMIM:606407	SLC3A1	6519	HP:0000286	Epicanthus
OMIM:606407	SLC3A1	6519	HP:0000358	Posteriorly rotated ears
OMIM:606407	SLC3A1	6519	HP:0000007	Autosomal recessive inheritance
OMIM:606407	SLC3A1	6519	HP:0001943	Hypoglycemia
OMIM:606407	SLC3A1	6519	HP:0002901	Hypocalcemia
OMIM:606407	SLC3A1	6519	HP:0100543	Cognitive impairment
OMIM:606407	SLC3A1	6519	HP:0001252	Muscular hypotonia
OMIM:606407	SLC3A1	6519	HP:0001250	Seizures
OMIM:606407	SLC3A1	6519	HP:0000499	Abnormality of the eyelashes
OMIM:606407	SLC3A1	6519	HP:0000787	Nephrolithiasis
OMIM:606407	SLC3A1	6519	HP:0010804	Tented upper lip vermilion
OMIM:606407	SLC3A1	6519	HP:0001558	Decreased fetal movement
OMIM:606407	SLC3A1	6519	HP:0001263	Global developmental delay
OMIM:606407	PPM1B	5495	HP:0002007	Frontal bossing
OMIM:606407	PPM1B	5495	HP:0000268	Dolichocephaly
OMIM:606407	PPM1B	5495	HP:0008872	Feeding difficulties in infancy
OMIM:606407	PPM1B	5495	HP:0000824	Growth hormone deficiency
OMIM:606407	PPM1B	5495	HP:0000400	Macrotia
OMIM:606407	PPM1B	5495	HP:0000527	Long eyelashes
OMIM:606407	PPM1B	5495	HP:0001557	Prenatal movement abnormality
OMIM:606407	PPM1B	5495	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:606407	PPM1B	5495	HP:0000508	Ptosis
OMIM:606407	PPM1B	5495	HP:0003128	Lactic acidosis
OMIM:606407	PPM1B	5495	HP:0002167	Neurological speech impairment
OMIM:606407	PPM1B	5495	HP:0001611	Nasal speech
OMIM:606407	PPM1B	5495	HP:0000368	Low-set, posteriorly rotated ears
OMIM:606407	PPM1B	5495	HP:0001608	Abnormality of the voice
OMIM:606407	PPM1B	5495	HP:0005280	Depressed nasal bridge
OMIM:606407	PPM1B	5495	HP:0010864	Intellectual disability, severe
OMIM:606407	PPM1B	5495	HP:0000815	Hypergonadotropic hypogonadism
OMIM:606407	PPM1B	5495	HP:0001508	Failure to thrive
OMIM:606407	PPM1B	5495	HP:0000078	Abnormality of the genital system
OMIM:606407	PPM1B	5495	HP:0000347	Micrognathia
OMIM:606407	PPM1B	5495	HP:0000286	Epicanthus
OMIM:606407	PPM1B	5495	HP:0000358	Posteriorly rotated ears
OMIM:606407	PPM1B	5495	HP:0000007	Autosomal recessive inheritance
OMIM:606407	PPM1B	5495	HP:0001943	Hypoglycemia
OMIM:606407	PPM1B	5495	HP:0002901	Hypocalcemia
OMIM:606407	PPM1B	5495	HP:0100543	Cognitive impairment
OMIM:606407	PPM1B	5495	HP:0001252	Muscular hypotonia
OMIM:606407	PPM1B	5495	HP:0001250	Seizures
OMIM:606407	PPM1B	5495	HP:0000499	Abnormality of the eyelashes
OMIM:606407	PPM1B	5495	HP:0000787	Nephrolithiasis
OMIM:606407	PPM1B	5495	HP:0010804	Tented upper lip vermilion
OMIM:606407	PPM1B	5495	HP:0001558	Decreased fetal movement
OMIM:606407	PPM1B	5495	HP:0001263	Global developmental delay
OMIM:606407	PREPL	9581	HP:0002007	Frontal bossing
OMIM:606407	PREPL	9581	HP:0000268	Dolichocephaly
OMIM:606407	PREPL	9581	HP:0008872	Feeding difficulties in infancy
OMIM:606407	PREPL	9581	HP:0000824	Growth hormone deficiency
OMIM:606407	PREPL	9581	HP:0000400	Macrotia
OMIM:606407	PREPL	9581	HP:0000527	Long eyelashes
OMIM:606407	PREPL	9581	HP:0001557	Prenatal movement abnormality
OMIM:606407	PREPL	9581	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:606407	PREPL	9581	HP:0000508	Ptosis
OMIM:606407	PREPL	9581	HP:0003128	Lactic acidosis
OMIM:606407	PREPL	9581	HP:0002167	Neurological speech impairment
OMIM:606407	PREPL	9581	HP:0001611	Nasal speech
OMIM:606407	PREPL	9581	HP:0000368	Low-set, posteriorly rotated ears
OMIM:606407	PREPL	9581	HP:0001608	Abnormality of the voice
OMIM:606407	PREPL	9581	HP:0005280	Depressed nasal bridge
OMIM:606407	PREPL	9581	HP:0010864	Intellectual disability, severe
OMIM:606407	PREPL	9581	HP:0000815	Hypergonadotropic hypogonadism
OMIM:606407	PREPL	9581	HP:0001508	Failure to thrive
OMIM:606407	PREPL	9581	HP:0000078	Abnormality of the genital system
OMIM:606407	PREPL	9581	HP:0000347	Micrognathia
OMIM:606407	PREPL	9581	HP:0000286	Epicanthus
OMIM:606407	PREPL	9581	HP:0000358	Posteriorly rotated ears
OMIM:606407	PREPL	9581	HP:0000007	Autosomal recessive inheritance
OMIM:606407	PREPL	9581	HP:0001943	Hypoglycemia
OMIM:606407	PREPL	9581	HP:0002901	Hypocalcemia
OMIM:606407	PREPL	9581	HP:0100543	Cognitive impairment
OMIM:606407	PREPL	9581	HP:0001252	Muscular hypotonia
OMIM:606407	PREPL	9581	HP:0001250	Seizures
OMIM:606407	PREPL	9581	HP:0000499	Abnormality of the eyelashes
OMIM:606407	PREPL	9581	HP:0000787	Nephrolithiasis
OMIM:606407	PREPL	9581	HP:0010804	Tented upper lip vermilion
OMIM:606407	PREPL	9581	HP:0001558	Decreased fetal movement
OMIM:606407	PREPL	9581	HP:0001263	Global developmental delay
OMIM:606407	CAMKMT	79823	HP:0002007	Frontal bossing
OMIM:606407	CAMKMT	79823	HP:0000268	Dolichocephaly
OMIM:606407	CAMKMT	79823	HP:0008872	Feeding difficulties in infancy
OMIM:606407	CAMKMT	79823	HP:0000824	Growth hormone deficiency
OMIM:606407	CAMKMT	79823	HP:0000400	Macrotia
OMIM:606407	CAMKMT	79823	HP:0000527	Long eyelashes
OMIM:606407	CAMKMT	79823	HP:0001557	Prenatal movement abnormality
OMIM:606407	CAMKMT	79823	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:606407	CAMKMT	79823	HP:0000508	Ptosis
OMIM:606407	CAMKMT	79823	HP:0003128	Lactic acidosis
OMIM:606407	CAMKMT	79823	HP:0002167	Neurological speech impairment
OMIM:606407	CAMKMT	79823	HP:0001611	Nasal speech
OMIM:606407	CAMKMT	79823	HP:0000368	Low-set, posteriorly rotated ears
OMIM:606407	CAMKMT	79823	HP:0001608	Abnormality of the voice
OMIM:606407	CAMKMT	79823	HP:0005280	Depressed nasal bridge
OMIM:606407	CAMKMT	79823	HP:0010864	Intellectual disability, severe
OMIM:606407	CAMKMT	79823	HP:0000815	Hypergonadotropic hypogonadism
OMIM:606407	CAMKMT	79823	HP:0001508	Failure to thrive
OMIM:606407	CAMKMT	79823	HP:0000078	Abnormality of the genital system
OMIM:606407	CAMKMT	79823	HP:0000347	Micrognathia
OMIM:606407	CAMKMT	79823	HP:0000286	Epicanthus
OMIM:606407	CAMKMT	79823	HP:0000358	Posteriorly rotated ears
OMIM:606407	CAMKMT	79823	HP:0000007	Autosomal recessive inheritance
OMIM:606407	CAMKMT	79823	HP:0001943	Hypoglycemia
OMIM:606407	CAMKMT	79823	HP:0002901	Hypocalcemia
OMIM:606407	CAMKMT	79823	HP:0100543	Cognitive impairment
OMIM:606407	CAMKMT	79823	HP:0001252	Muscular hypotonia
OMIM:606407	CAMKMT	79823	HP:0001250	Seizures
OMIM:606407	CAMKMT	79823	HP:0000499	Abnormality of the eyelashes
OMIM:606407	CAMKMT	79823	HP:0000787	Nephrolithiasis
OMIM:606407	CAMKMT	79823	HP:0010804	Tented upper lip vermilion
OMIM:606407	CAMKMT	79823	HP:0001558	Decreased fetal movement
OMIM:606407	CAMKMT	79823	HP:0001263	Global developmental delay
OMIM:613810	RLBP1	6017	HP:0000580	Pigmentary retinopathy
OMIM:613810	RLBP1	6017	HP:0007994	Peripheral visual field loss
OMIM:613810	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:613810	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613810	RLBP1	6017	HP:0000505	Visual impairment
OMIM:613810	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613810	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613810	RLBP1	6017	HP:0000512	Abnormal electroretinogram
OMIM:613810	SPATA7	55812	HP:0000580	Pigmentary retinopathy
OMIM:613810	SPATA7	55812	HP:0007994	Peripheral visual field loss
OMIM:613810	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:613810	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613810	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613810	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613810	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613810	SPATA7	55812	HP:0000512	Abnormal electroretinogram
OMIM:613810	ARL6	84100	HP:0000580	Pigmentary retinopathy
OMIM:613810	ARL6	84100	HP:0007994	Peripheral visual field loss
OMIM:613810	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:613810	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613810	ARL6	84100	HP:0000505	Visual impairment
OMIM:613810	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613810	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613810	ARL6	84100	HP:0000512	Abnormal electroretinogram
OMIM:613810	CERKL	375298	HP:0000580	Pigmentary retinopathy
OMIM:613810	CERKL	375298	HP:0007994	Peripheral visual field loss
OMIM:613810	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:613810	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613810	CERKL	375298	HP:0000505	Visual impairment
OMIM:613810	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613810	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613810	CERKL	375298	HP:0000512	Abnormal electroretinogram
OMIM:613810	PRPF31	26121	HP:0000580	Pigmentary retinopathy
OMIM:613810	PRPF31	26121	HP:0007994	Peripheral visual field loss
OMIM:613810	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:613810	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613810	PRPF31	26121	HP:0000505	Visual impairment
OMIM:613810	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613810	PRPF31	26121	HP:0000512	Abnormal electroretinogram
OMIM:613810	TTC8	123016	HP:0000580	Pigmentary retinopathy
OMIM:613810	TTC8	123016	HP:0007994	Peripheral visual field loss
OMIM:613810	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:613810	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613810	TTC8	123016	HP:0000505	Visual impairment
OMIM:613810	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613810	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613810	TTC8	123016	HP:0000512	Abnormal electroretinogram
OMIM:613810	PROM1	8842	HP:0000580	Pigmentary retinopathy
OMIM:613810	PROM1	8842	HP:0007994	Peripheral visual field loss
OMIM:613810	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:613810	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613810	PROM1	8842	HP:0000505	Visual impairment
OMIM:613810	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613810	PROM1	8842	HP:0000512	Abnormal electroretinogram
OMIM:613810	LRAT	9227	HP:0000580	Pigmentary retinopathy
OMIM:613810	LRAT	9227	HP:0007994	Peripheral visual field loss
OMIM:613810	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:613810	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613810	LRAT	9227	HP:0000505	Visual impairment
OMIM:613810	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613810	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613810	LRAT	9227	HP:0000512	Abnormal electroretinogram
OMIM:613810	IFT140	9742	HP:0000580	Pigmentary retinopathy
OMIM:613810	IFT140	9742	HP:0007994	Peripheral visual field loss
OMIM:613810	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:613810	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613810	IFT140	9742	HP:0000505	Visual impairment
OMIM:613810	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613810	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613810	IFT140	9742	HP:0000512	Abnormal electroretinogram
OMIM:613810	BEST1	7439	HP:0000580	Pigmentary retinopathy
OMIM:613810	BEST1	7439	HP:0007994	Peripheral visual field loss
OMIM:613810	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:613810	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613810	BEST1	7439	HP:0000505	Visual impairment
OMIM:613810	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613810	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613810	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:613810	NEK2	4751	HP:0000580	Pigmentary retinopathy
OMIM:613810	NEK2	4751	HP:0007994	Peripheral visual field loss
OMIM:613810	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:613810	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613810	NEK2	4751	HP:0000505	Visual impairment
OMIM:613810	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613810	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613810	NEK2	4751	HP:0000512	Abnormal electroretinogram
OMIM:613810	ARL2BP	23568	HP:0000580	Pigmentary retinopathy
OMIM:613810	ARL2BP	23568	HP:0007994	Peripheral visual field loss
OMIM:613810	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:613810	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613810	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:613810	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613810	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613810	ARL2BP	23568	HP:0000512	Abnormal electroretinogram
OMIM:613810	NR2E3	10002	HP:0000580	Pigmentary retinopathy
OMIM:613810	NR2E3	10002	HP:0007994	Peripheral visual field loss
OMIM:613810	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:613810	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613810	NR2E3	10002	HP:0000505	Visual impairment
OMIM:613810	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613810	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613810	NR2E3	10002	HP:0000512	Abnormal electroretinogram
OMIM:613810	EYS	346007	HP:0000580	Pigmentary retinopathy
OMIM:613810	EYS	346007	HP:0007994	Peripheral visual field loss
OMIM:613810	EYS	346007	HP:0000543	Optic disc pallor
OMIM:613810	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613810	EYS	346007	HP:0000505	Visual impairment
OMIM:613810	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613810	EYS	346007	HP:0000662	Nyctalopia
OMIM:613810	EYS	346007	HP:0000512	Abnormal electroretinogram
OMIM:613810	MAK	4117	HP:0000580	Pigmentary retinopathy
OMIM:613810	MAK	4117	HP:0007994	Peripheral visual field loss
OMIM:613810	MAK	4117	HP:0000543	Optic disc pallor
OMIM:613810	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613810	MAK	4117	HP:0000505	Visual impairment
OMIM:613810	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613810	MAK	4117	HP:0000662	Nyctalopia
OMIM:613810	MAK	4117	HP:0000512	Abnormal electroretinogram
OMIM:613810	SAG	6295	HP:0000580	Pigmentary retinopathy
OMIM:613810	SAG	6295	HP:0007994	Peripheral visual field loss
OMIM:613810	SAG	6295	HP:0000543	Optic disc pallor
OMIM:613810	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613810	SAG	6295	HP:0000505	Visual impairment
OMIM:613810	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613810	SAG	6295	HP:0000662	Nyctalopia
OMIM:613810	SAG	6295	HP:0000512	Abnormal electroretinogram
OMIM:613810	ABCA4	24	HP:0000580	Pigmentary retinopathy
OMIM:613810	ABCA4	24	HP:0007994	Peripheral visual field loss
OMIM:613810	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:613810	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613810	ABCA4	24	HP:0000505	Visual impairment
OMIM:613810	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613810	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613810	ABCA4	24	HP:0000512	Abnormal electroretinogram
OMIM:613810	PDE6A	5145	HP:0000580	Pigmentary retinopathy
OMIM:613810	PDE6A	5145	HP:0007994	Peripheral visual field loss
OMIM:613810	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:613810	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613810	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613810	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613810	PDE6A	5145	HP:0000512	Abnormal electroretinogram
OMIM:613810	PDE6G	5148	HP:0000580	Pigmentary retinopathy
OMIM:613810	PDE6G	5148	HP:0007994	Peripheral visual field loss
OMIM:613810	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:613810	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613810	PDE6G	5148	HP:0000505	Visual impairment
OMIM:613810	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613810	PDE6G	5148	HP:0000512	Abnormal electroretinogram
OMIM:613810	IMPDH1	3614	HP:0000580	Pigmentary retinopathy
OMIM:613810	IMPDH1	3614	HP:0007994	Peripheral visual field loss
OMIM:613810	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:613810	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613810	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613810	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613810	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613810	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
OMIM:613810	OFD1	8481	HP:0000580	Pigmentary retinopathy
OMIM:613810	OFD1	8481	HP:0007994	Peripheral visual field loss
OMIM:613810	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:613810	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613810	OFD1	8481	HP:0000505	Visual impairment
OMIM:613810	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613810	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613810	OFD1	8481	HP:0000512	Abnormal electroretinogram
OMIM:613810	GUCA1B	2979	HP:0000580	Pigmentary retinopathy
OMIM:613810	GUCA1B	2979	HP:0007994	Peripheral visual field loss
OMIM:613810	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:613810	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613810	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613810	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613810	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613810	GUCA1B	2979	HP:0000512	Abnormal electroretinogram
OMIM:613810	NRL	4901	HP:0000580	Pigmentary retinopathy
OMIM:613810	NRL	4901	HP:0007994	Peripheral visual field loss
OMIM:613810	NRL	4901	HP:0000543	Optic disc pallor
OMIM:613810	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613810	NRL	4901	HP:0000505	Visual impairment
OMIM:613810	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613810	NRL	4901	HP:0000662	Nyctalopia
OMIM:613810	NRL	4901	HP:0000512	Abnormal electroretinogram
OMIM:613810	PDE6B	5158	HP:0000580	Pigmentary retinopathy
OMIM:613810	PDE6B	5158	HP:0007994	Peripheral visual field loss
OMIM:613810	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:613810	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613810	PDE6B	5158	HP:0000505	Visual impairment
OMIM:613810	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613810	PDE6B	5158	HP:0000512	Abnormal electroretinogram
OMIM:613810	KLHL7	55975	HP:0000580	Pigmentary retinopathy
OMIM:613810	KLHL7	55975	HP:0007994	Peripheral visual field loss
OMIM:613810	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:613810	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613810	KLHL7	55975	HP:0000505	Visual impairment
OMIM:613810	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613810	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613810	KLHL7	55975	HP:0000512	Abnormal electroretinogram
OMIM:613810	PRPF4	9128	HP:0000580	Pigmentary retinopathy
OMIM:613810	PRPF4	9128	HP:0007994	Peripheral visual field loss
OMIM:613810	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:613810	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613810	PRPF4	9128	HP:0000505	Visual impairment
OMIM:613810	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613810	PRPF4	9128	HP:0000512	Abnormal electroretinogram
OMIM:613810	PRPF3	9129	HP:0000580	Pigmentary retinopathy
OMIM:613810	PRPF3	9129	HP:0007994	Peripheral visual field loss
OMIM:613810	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:613810	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613810	PRPF3	9129	HP:0000505	Visual impairment
OMIM:613810	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613810	PRPF3	9129	HP:0000512	Abnormal electroretinogram
OMIM:613810	FAM161A	84140	HP:0000580	Pigmentary retinopathy
OMIM:613810	FAM161A	84140	HP:0007994	Peripheral visual field loss
OMIM:613810	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:613810	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613810	FAM161A	84140	HP:0000505	Visual impairment
OMIM:613810	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613810	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613810	FAM161A	84140	HP:0000512	Abnormal electroretinogram
OMIM:613810	IFT172	26160	HP:0000580	Pigmentary retinopathy
OMIM:613810	IFT172	26160	HP:0007994	Peripheral visual field loss
OMIM:613810	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:613810	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613810	IFT172	26160	HP:0000505	Visual impairment
OMIM:613810	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613810	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613810	IFT172	26160	HP:0000512	Abnormal electroretinogram
OMIM:613810	KIZ	55857	HP:0000580	Pigmentary retinopathy
OMIM:613810	KIZ	55857	HP:0007994	Peripheral visual field loss
OMIM:613810	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:613810	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613810	KIZ	55857	HP:0000505	Visual impairment
OMIM:613810	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613810	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613810	KIZ	55857	HP:0000512	Abnormal electroretinogram
OMIM:613810	CDHR1	92211	HP:0000580	Pigmentary retinopathy
OMIM:613810	CDHR1	92211	HP:0007994	Peripheral visual field loss
OMIM:613810	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:613810	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613810	CDHR1	92211	HP:0000505	Visual impairment
OMIM:613810	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613810	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613810	CDHR1	92211	HP:0000512	Abnormal electroretinogram
OMIM:613810	ZNF408	79797	HP:0000580	Pigmentary retinopathy
OMIM:613810	ZNF408	79797	HP:0007994	Peripheral visual field loss
OMIM:613810	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:613810	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613810	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613810	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613810	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613810	ZNF408	79797	HP:0000512	Abnormal electroretinogram
OMIM:613810	RBP3	5949	HP:0000580	Pigmentary retinopathy
OMIM:613810	RBP3	5949	HP:0007994	Peripheral visual field loss
OMIM:613810	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:613810	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613810	RBP3	5949	HP:0000505	Visual impairment
OMIM:613810	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613810	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613810	RBP3	5949	HP:0000512	Abnormal electroretinogram
OMIM:613810	HGSNAT	138050	HP:0000580	Pigmentary retinopathy
OMIM:613810	HGSNAT	138050	HP:0007994	Peripheral visual field loss
OMIM:613810	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:613810	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613810	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:613810	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613810	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613810	HGSNAT	138050	HP:0000512	Abnormal electroretinogram
OMIM:613810	FSCN2	25794	HP:0000580	Pigmentary retinopathy
OMIM:613810	FSCN2	25794	HP:0007994	Peripheral visual field loss
OMIM:613810	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:613810	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613810	FSCN2	25794	HP:0000505	Visual impairment
OMIM:613810	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613810	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613810	FSCN2	25794	HP:0000512	Abnormal electroretinogram
OMIM:613810	PRCD	768206	HP:0000580	Pigmentary retinopathy
OMIM:613810	PRCD	768206	HP:0007994	Peripheral visual field loss
OMIM:613810	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:613810	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613810	PRCD	768206	HP:0000505	Visual impairment
OMIM:613810	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613810	PRCD	768206	HP:0000512	Abnormal electroretinogram
OMIM:613810	BBS2	583	HP:0000580	Pigmentary retinopathy
OMIM:613810	BBS2	583	HP:0007994	Peripheral visual field loss
OMIM:613810	BBS2	583	HP:0000543	Optic disc pallor
OMIM:613810	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613810	BBS2	583	HP:0000505	Visual impairment
OMIM:613810	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613810	BBS2	583	HP:0000662	Nyctalopia
OMIM:613810	BBS2	583	HP:0000512	Abnormal electroretinogram
OMIM:613810	RDH12	145226	HP:0000580	Pigmentary retinopathy
OMIM:613810	RDH12	145226	HP:0007994	Peripheral visual field loss
OMIM:613810	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:613810	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613810	RDH12	145226	HP:0000505	Visual impairment
OMIM:613810	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613810	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613810	RDH12	145226	HP:0000512	Abnormal electroretinogram
OMIM:613810	PRPH2	5961	HP:0000580	Pigmentary retinopathy
OMIM:613810	PRPH2	5961	HP:0007994	Peripheral visual field loss
OMIM:613810	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:613810	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613810	PRPH2	5961	HP:0000505	Visual impairment
OMIM:613810	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613810	PRPH2	5961	HP:0000512	Abnormal electroretinogram
OMIM:613810	DHDDS	79947	HP:0000580	Pigmentary retinopathy
OMIM:613810	DHDDS	79947	HP:0007994	Peripheral visual field loss
OMIM:613810	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:613810	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613810	DHDDS	79947	HP:0000505	Visual impairment
OMIM:613810	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613810	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613810	DHDDS	79947	HP:0000512	Abnormal electroretinogram
OMIM:613810	ROM1	6094	HP:0000580	Pigmentary retinopathy
OMIM:613810	ROM1	6094	HP:0007994	Peripheral visual field loss
OMIM:613810	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:613810	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613810	ROM1	6094	HP:0000505	Visual impairment
OMIM:613810	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613810	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613810	ROM1	6094	HP:0000512	Abnormal electroretinogram
OMIM:613810	C2ORF71	388939	HP:0000580	Pigmentary retinopathy
OMIM:613810	C2ORF71	388939	HP:0007994	Peripheral visual field loss
OMIM:613810	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:613810	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613810	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613810	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613810	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613810	C2ORF71	388939	HP:0000512	Abnormal electroretinogram
OMIM:613810	RP9	6100	HP:0000580	Pigmentary retinopathy
OMIM:613810	RP9	6100	HP:0007994	Peripheral visual field loss
OMIM:613810	RP9	6100	HP:0000543	Optic disc pallor
OMIM:613810	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613810	RP9	6100	HP:0000505	Visual impairment
OMIM:613810	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613810	RP9	6100	HP:0000662	Nyctalopia
OMIM:613810	RP9	6100	HP:0000512	Abnormal electroretinogram
OMIM:613810	PRPF6	24148	HP:0000580	Pigmentary retinopathy
OMIM:613810	PRPF6	24148	HP:0007994	Peripheral visual field loss
OMIM:613810	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:613810	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613810	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613810	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613810	PRPF6	24148	HP:0000512	Abnormal electroretinogram
OMIM:613810	RP1	6101	HP:0000580	Pigmentary retinopathy
OMIM:613810	RP1	6101	HP:0007994	Peripheral visual field loss
OMIM:613810	RP1	6101	HP:0000543	Optic disc pallor
OMIM:613810	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613810	RP1	6101	HP:0000505	Visual impairment
OMIM:613810	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613810	RP1	6101	HP:0000662	Nyctalopia
OMIM:613810	RP1	6101	HP:0000512	Abnormal electroretinogram
OMIM:613810	RP2	6102	HP:0000580	Pigmentary retinopathy
OMIM:613810	RP2	6102	HP:0007994	Peripheral visual field loss
OMIM:613810	RP2	6102	HP:0000543	Optic disc pallor
OMIM:613810	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613810	RP2	6102	HP:0000505	Visual impairment
OMIM:613810	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613810	RP2	6102	HP:0000662	Nyctalopia
OMIM:613810	RP2	6102	HP:0000512	Abnormal electroretinogram
OMIM:613810	RPGR	6103	HP:0000580	Pigmentary retinopathy
OMIM:613810	RPGR	6103	HP:0007994	Peripheral visual field loss
OMIM:613810	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:613810	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613810	RPGR	6103	HP:0000505	Visual impairment
OMIM:613810	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613810	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613810	RPGR	6103	HP:0000512	Abnormal electroretinogram
OMIM:613810	SEMA4A	64218	HP:0000580	Pigmentary retinopathy
OMIM:613810	SEMA4A	64218	HP:0007994	Peripheral visual field loss
OMIM:613810	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:613810	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613810	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:613810	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613810	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613810	SEMA4A	64218	HP:0000512	Abnormal electroretinogram
OMIM:613810	C8ORF37	157657	HP:0000580	Pigmentary retinopathy
OMIM:613810	C8ORF37	157657	HP:0007994	Peripheral visual field loss
OMIM:613810	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:613810	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613810	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:613810	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613810	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613810	C8ORF37	157657	HP:0000512	Abnormal electroretinogram
OMIM:613810	IDH3B	3420	HP:0000580	Pigmentary retinopathy
OMIM:613810	IDH3B	3420	HP:0007994	Peripheral visual field loss
OMIM:613810	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:613810	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613810	IDH3B	3420	HP:0000505	Visual impairment
OMIM:613810	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613810	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613810	IDH3B	3420	HP:0000512	Abnormal electroretinogram
OMIM:613810	MERTK	10461	HP:0000580	Pigmentary retinopathy
OMIM:613810	MERTK	10461	HP:0007994	Peripheral visual field loss
OMIM:613810	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:613810	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613810	MERTK	10461	HP:0000505	Visual impairment
OMIM:613810	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613810	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613810	MERTK	10461	HP:0000512	Abnormal electroretinogram
OMIM:613810	PRPF8	10594	HP:0000580	Pigmentary retinopathy
OMIM:613810	PRPF8	10594	HP:0007994	Peripheral visual field loss
OMIM:613810	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:613810	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613810	PRPF8	10594	HP:0000505	Visual impairment
OMIM:613810	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613810	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613810	PRPF8	10594	HP:0000512	Abnormal electroretinogram
OMIM:613810	TOPORS	10210	HP:0000580	Pigmentary retinopathy
OMIM:613810	TOPORS	10210	HP:0007994	Peripheral visual field loss
OMIM:613810	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:613810	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613810	TOPORS	10210	HP:0000505	Visual impairment
OMIM:613810	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613810	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613810	TOPORS	10210	HP:0000512	Abnormal electroretinogram
OMIM:613810	USH2A	7399	HP:0000580	Pigmentary retinopathy
OMIM:613810	USH2A	7399	HP:0007994	Peripheral visual field loss
OMIM:613810	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:613810	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613810	USH2A	7399	HP:0000505	Visual impairment
OMIM:613810	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613810	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613810	USH2A	7399	HP:0000512	Abnormal electroretinogram
OMIM:613810	RPE65	6121	HP:0000580	Pigmentary retinopathy
OMIM:613810	RPE65	6121	HP:0007994	Peripheral visual field loss
OMIM:613810	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:613810	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613810	RPE65	6121	HP:0000505	Visual impairment
OMIM:613810	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613810	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613810	RPE65	6121	HP:0000512	Abnormal electroretinogram
OMIM:613810	CLRN1	7401	HP:0000580	Pigmentary retinopathy
OMIM:613810	CLRN1	7401	HP:0007994	Peripheral visual field loss
OMIM:613810	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:613810	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613810	CLRN1	7401	HP:0000505	Visual impairment
OMIM:613810	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613810	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613810	CLRN1	7401	HP:0000512	Abnormal electroretinogram
OMIM:613810	CNGB1	1258	HP:0000580	Pigmentary retinopathy
OMIM:613810	CNGB1	1258	HP:0007994	Peripheral visual field loss
OMIM:613810	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:613810	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613810	CNGB1	1258	HP:0000505	Visual impairment
OMIM:613810	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613810	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613810	CNGB1	1258	HP:0000512	Abnormal electroretinogram
OMIM:613810	RGR	5995	HP:0000580	Pigmentary retinopathy
OMIM:613810	RGR	5995	HP:0007994	Peripheral visual field loss
OMIM:613810	RGR	5995	HP:0000543	Optic disc pallor
OMIM:613810	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613810	RGR	5995	HP:0000505	Visual impairment
OMIM:613810	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613810	RGR	5995	HP:0000662	Nyctalopia
OMIM:613810	RGR	5995	HP:0000512	Abnormal electroretinogram
OMIM:613810	CNGA1	1259	HP:0000580	Pigmentary retinopathy
OMIM:613810	CNGA1	1259	HP:0007994	Peripheral visual field loss
OMIM:613810	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:613810	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613810	CNGA1	1259	HP:0000505	Visual impairment
OMIM:613810	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613810	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613810	CNGA1	1259	HP:0000512	Abnormal electroretinogram
OMIM:613810	TUB	7275	HP:0000580	Pigmentary retinopathy
OMIM:613810	TUB	7275	HP:0007994	Peripheral visual field loss
OMIM:613810	TUB	7275	HP:0000543	Optic disc pallor
OMIM:613810	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613810	TUB	7275	HP:0000505	Visual impairment
OMIM:613810	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613810	TUB	7275	HP:0000662	Nyctalopia
OMIM:613810	TUB	7275	HP:0000512	Abnormal electroretinogram
OMIM:613810	SNRNP200	23020	HP:0000580	Pigmentary retinopathy
OMIM:613810	SNRNP200	23020	HP:0007994	Peripheral visual field loss
OMIM:613810	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:613810	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613810	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:613810	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613810	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613810	SNRNP200	23020	HP:0000512	Abnormal electroretinogram
OMIM:613810	SLC7A14	57709	HP:0000580	Pigmentary retinopathy
OMIM:613810	SLC7A14	57709	HP:0007994	Peripheral visual field loss
OMIM:613810	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:613810	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613810	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:613810	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613810	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613810	SLC7A14	57709	HP:0000512	Abnormal electroretinogram
OMIM:613810	TULP1	7287	HP:0000580	Pigmentary retinopathy
OMIM:613810	TULP1	7287	HP:0007994	Peripheral visual field loss
OMIM:613810	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:613810	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613810	TULP1	7287	HP:0000505	Visual impairment
OMIM:613810	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613810	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613810	TULP1	7287	HP:0000512	Abnormal electroretinogram
OMIM:613810	RHO	6010	HP:0000580	Pigmentary retinopathy
OMIM:613810	RHO	6010	HP:0007994	Peripheral visual field loss
OMIM:613810	RHO	6010	HP:0000543	Optic disc pallor
OMIM:613810	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613810	RHO	6010	HP:0000505	Visual impairment
OMIM:613810	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613810	RHO	6010	HP:0000662	Nyctalopia
OMIM:613810	RHO	6010	HP:0000512	Abnormal electroretinogram
OMIM:613810	CA4	762	HP:0000580	Pigmentary retinopathy
OMIM:613810	CA4	762	HP:0007994	Peripheral visual field loss
OMIM:613810	CA4	762	HP:0000543	Optic disc pallor
OMIM:613810	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613810	CA4	762	HP:0000505	Visual impairment
OMIM:613810	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613810	CA4	762	HP:0000662	Nyctalopia
OMIM:613810	CA4	762	HP:0000512	Abnormal electroretinogram
OMIM:613810	CRB1	23418	HP:0000580	Pigmentary retinopathy
OMIM:613810	CRB1	23418	HP:0007994	Peripheral visual field loss
OMIM:613810	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:613810	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613810	CRB1	23418	HP:0000505	Visual impairment
OMIM:613810	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613810	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613810	CRB1	23418	HP:0000512	Abnormal electroretinogram
OMIM:613810	IMPG2	50939	HP:0000580	Pigmentary retinopathy
OMIM:613810	IMPG2	50939	HP:0007994	Peripheral visual field loss
OMIM:613810	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:613810	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613810	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613810	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613810	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613810	IMPG2	50939	HP:0000512	Abnormal electroretinogram
OMIM:613810	ZNF513	130557	HP:0000580	Pigmentary retinopathy
OMIM:613810	ZNF513	130557	HP:0007994	Peripheral visual field loss
OMIM:613810	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:613810	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613810	ZNF513	130557	HP:0000505	Visual impairment
OMIM:613810	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613810	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613810	ZNF513	130557	HP:0000512	Abnormal electroretinogram
OMIM:613810	CRX	1406	HP:0000580	Pigmentary retinopathy
OMIM:613810	CRX	1406	HP:0007994	Peripheral visual field loss
OMIM:613810	CRX	1406	HP:0000543	Optic disc pallor
OMIM:613810	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:613810	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613810	CRX	1406	HP:0000505	Visual impairment
OMIM:613810	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613810	CRX	1406	HP:0000662	Nyctalopia
OMIM:613810	CRX	1406	HP:0000512	Abnormal electroretinogram
OMIM:164400	ATXN1	6310	HP:0002070	Limb ataxia
OMIM:164400	ATXN1	6310	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:164400	ATXN1	6310	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:164400	ATXN1	6310	HP:0001347	Hyperreflexia
OMIM:164400	ATXN1	6310	HP:0003581	Adult onset
OMIM:164400	ATXN1	6310	HP:0001283	Bulbar palsy
OMIM:164400	ATXN1	6310	HP:0000006	Autosomal dominant inheritance
OMIM:164400	ATXN1	6310	HP:0001151	Impaired horizontal smooth pursuit
OMIM:164400	ATXN1	6310	HP:0001252	Muscular hypotonia
OMIM:164400	ATXN1	6310	HP:0002075	Dysdiadochokinesis
OMIM:164400	ATXN1	6310	HP:0002015	Dysphagia
OMIM:164400	ATXN1	6310	HP:0000648	Optic atrophy
OMIM:164400	ATXN1	6310	HP:0002078	Truncal ataxia
OMIM:164400	ATXN1	6310	HP:0000543	Optic disc pallor
OMIM:164400	ATXN1	6310	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:164400	ATXN1	6310	HP:0003487	Babinski sign
OMIM:164400	ATXN1	6310	HP:0002072	Chorea
OMIM:164400	ATXN1	6310	HP:0002198	Dilated fourth ventricle
OMIM:164400	ATXN1	6310	HP:0100543	Cognitive impairment
OMIM:164400	ATXN1	6310	HP:0003693	Distal amyotrophy
OMIM:164400	ATXN1	6310	HP:0001260	Dysarthria
OMIM:164400	ATXN1	6310	HP:0000640	Gaze-evoked nystagmus
OMIM:164400	ATXN1	6310	HP:0002495	Impaired vibratory sensation
OMIM:164400	ATXN1	6310	HP:0001257	Spasticity
OMIM:164400	ATXN1	6310	HP:0001310	Dysmetria
OMIM:164400	ATXN1	6310	HP:0003431	Decreased motor nerve conduction velocity
OMIM:164400	ATXN1	6310	HP:0001284	Areflexia
OMIM:300100	ABCD1	215	HP:0000924	Abnormality of the skeletal system
OMIM:300100	ABCD1	215	HP:0001271	Polyneuropathy
OMIM:300100	ABCD1	215	HP:0002500	Abnormality of the cerebral white matter
OMIM:300100	ABCD1	215	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:300100	ABCD1	215	HP:0002078	Truncal ataxia
OMIM:300100	ABCD1	215	HP:0002311	Incoordination
OMIM:300100	ABCD1	215	HP:0002607	Bowel incontinence
OMIM:300100	ABCD1	215	HP:0002070	Limb ataxia
OMIM:300100	ABCD1	215	HP:0001258	Spastic paraplegia
OMIM:300100	ABCD1	215	HP:0000572	Visual loss
OMIM:300100	ABCD1	215	HP:0000020	Urinary incontinence
OMIM:300100	ABCD1	215	HP:0000135	Hypogonadism
OMIM:300100	ABCD1	215	HP:0000726	Dementia
OMIM:300100	ABCD1	215	HP:0001283	Bulbar palsy
OMIM:300100	ABCD1	215	HP:0000953	Hyperpigmentation of the skin
OMIM:300100	ABCD1	215	HP:0003676	Progressive
OMIM:300100	ABCD1	215	HP:0000365	Hearing impairment
OMIM:300100	ABCD1	215	HP:0000709	Psychosis
OMIM:300100	ABCD1	215	HP:0002385	Paraparesis
OMIM:300100	ABCD1	215	HP:0008207	Primary adrenal insufficiency
OMIM:300100	ABCD1	215	HP:0002371	Loss of speech
OMIM:300100	ABCD1	215	HP:0001250	Seizures
OMIM:300100	ABCD1	215	HP:0007018	Attention deficit hyperactivity disorder
OMIM:300100	ABCD1	215	HP:0001419	X-linked recessive inheritance
OMIM:300100	ABCD1	215	HP:0002180	Neurodegeneration
OMIM:300100	ABCD1	215	HP:0000618	Blindness
OMIM:612132	IKBKG	8517	HP:0011120	Concave nasal ridge
OMIM:612132	IKBKG	8517	HP:0003593	Infantile onset
OMIM:612132	IKBKG	8517	HP:0008070	Sparse hair
OMIM:612132	IKBKG	8517	HP:0002007	Frontal bossing
OMIM:612132	IKBKG	8517	HP:0000668	Hypodontia
OMIM:612132	IKBKG	8517	HP:0000966	Hypohidrosis
OMIM:612132	IKBKG	8517	HP:0000006	Autosomal dominant inheritance
OMIM:612132	IKBKG	8517	HP:0002205	Recurrent respiratory infections
OMIM:612132	IKBKG	8517	HP:0000970	Anhidrosis
OMIM:612132	NFKBIA	4792	HP:0011120	Concave nasal ridge
OMIM:612132	NFKBIA	4792	HP:0003593	Infantile onset
OMIM:612132	NFKBIA	4792	HP:0008070	Sparse hair
OMIM:612132	NFKBIA	4792	HP:0002007	Frontal bossing
OMIM:612132	NFKBIA	4792	HP:0000668	Hypodontia
OMIM:612132	NFKBIA	4792	HP:0000966	Hypohidrosis
OMIM:612132	NFKBIA	4792	HP:0000006	Autosomal dominant inheritance
OMIM:612132	NFKBIA	4792	HP:0002205	Recurrent respiratory infections
OMIM:612132	NFKBIA	4792	HP:0000970	Anhidrosis
OMIM:244400	DNAAF2	55172	HP:0000405	Conductive hearing impairment
OMIM:244400	DNAAF2	55172	HP:0011109	Chronic sinusitis
OMIM:244400	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:244400	DNAAF2	55172	HP:0000458	Anosmia
OMIM:244400	DNAAF2	55172	HP:0002090	Pneumonia
OMIM:244400	DNAAF2	55172	HP:0002315	Headache
OMIM:244400	DNAAF2	55172	HP:0003251	Male infertility
OMIM:244400	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:244400	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:244400	DNAAF2	55172	HP:0000481	Abnormality of the cornea
OMIM:244400	DNAAF2	55172	HP:0001425	Heterogeneous
OMIM:244400	DNAAF2	55172	HP:0012263	Immotile cilia
OMIM:244400	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:244400	CCNO	10309	HP:0000405	Conductive hearing impairment
OMIM:244400	CCNO	10309	HP:0011109	Chronic sinusitis
OMIM:244400	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:244400	CCNO	10309	HP:0000458	Anosmia
OMIM:244400	CCNO	10309	HP:0002090	Pneumonia
OMIM:244400	CCNO	10309	HP:0002315	Headache
OMIM:244400	CCNO	10309	HP:0003251	Male infertility
OMIM:244400	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:244400	CCNO	10309	HP:0000246	Sinusitis
OMIM:244400	CCNO	10309	HP:0000481	Abnormality of the cornea
OMIM:244400	CCNO	10309	HP:0001425	Heterogeneous
OMIM:244400	CCNO	10309	HP:0012263	Immotile cilia
OMIM:244400	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:244400	DNAAF5	54919	HP:0000405	Conductive hearing impairment
OMIM:244400	DNAAF5	54919	HP:0011109	Chronic sinusitis
OMIM:244400	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:244400	DNAAF5	54919	HP:0000458	Anosmia
OMIM:244400	DNAAF5	54919	HP:0002090	Pneumonia
OMIM:244400	DNAAF5	54919	HP:0002315	Headache
OMIM:244400	DNAAF5	54919	HP:0003251	Male infertility
OMIM:244400	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:244400	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:244400	DNAAF5	54919	HP:0000481	Abnormality of the cornea
OMIM:244400	DNAAF5	54919	HP:0001425	Heterogeneous
OMIM:244400	DNAAF5	54919	HP:0012263	Immotile cilia
OMIM:244400	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:244400	DNAAF3	352909	HP:0000405	Conductive hearing impairment
OMIM:244400	DNAAF3	352909	HP:0011109	Chronic sinusitis
OMIM:244400	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:244400	DNAAF3	352909	HP:0000458	Anosmia
OMIM:244400	DNAAF3	352909	HP:0002090	Pneumonia
OMIM:244400	DNAAF3	352909	HP:0002315	Headache
OMIM:244400	DNAAF3	352909	HP:0003251	Male infertility
OMIM:244400	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:244400	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:244400	DNAAF3	352909	HP:0000481	Abnormality of the cornea
OMIM:244400	DNAAF3	352909	HP:0001425	Heterogeneous
OMIM:244400	DNAAF3	352909	HP:0012263	Immotile cilia
OMIM:244400	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:244400	DNAI1	27019	HP:0000405	Conductive hearing impairment
OMIM:244400	DNAI1	27019	HP:0011109	Chronic sinusitis
OMIM:244400	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:244400	DNAI1	27019	HP:0000458	Anosmia
OMIM:244400	DNAI1	27019	HP:0002090	Pneumonia
OMIM:244400	DNAI1	27019	HP:0002315	Headache
OMIM:244400	DNAI1	27019	HP:0003251	Male infertility
OMIM:244400	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:244400	DNAI1	27019	HP:0000246	Sinusitis
OMIM:244400	DNAI1	27019	HP:0000481	Abnormality of the cornea
OMIM:244400	DNAI1	27019	HP:0001425	Heterogeneous
OMIM:244400	DNAI1	27019	HP:0012263	Immotile cilia
OMIM:244400	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:244400	DRC1	92749	HP:0000405	Conductive hearing impairment
OMIM:244400	DRC1	92749	HP:0011109	Chronic sinusitis
OMIM:244400	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:244400	DRC1	92749	HP:0000458	Anosmia
OMIM:244400	DRC1	92749	HP:0002090	Pneumonia
OMIM:244400	DRC1	92749	HP:0002315	Headache
OMIM:244400	DRC1	92749	HP:0003251	Male infertility
OMIM:244400	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:244400	DRC1	92749	HP:0000246	Sinusitis
OMIM:244400	DRC1	92749	HP:0000481	Abnormality of the cornea
OMIM:244400	DRC1	92749	HP:0001425	Heterogeneous
OMIM:244400	DRC1	92749	HP:0012263	Immotile cilia
OMIM:244400	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:244400	SPAG1	6674	HP:0000405	Conductive hearing impairment
OMIM:244400	SPAG1	6674	HP:0011109	Chronic sinusitis
OMIM:244400	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:244400	SPAG1	6674	HP:0000458	Anosmia
OMIM:244400	SPAG1	6674	HP:0002090	Pneumonia
OMIM:244400	SPAG1	6674	HP:0002315	Headache
OMIM:244400	SPAG1	6674	HP:0003251	Male infertility
OMIM:244400	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:244400	SPAG1	6674	HP:0000246	Sinusitis
OMIM:244400	SPAG1	6674	HP:0000481	Abnormality of the cornea
OMIM:244400	SPAG1	6674	HP:0001425	Heterogeneous
OMIM:244400	SPAG1	6674	HP:0012263	Immotile cilia
OMIM:244400	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:244400	RSPH3	83861	HP:0000405	Conductive hearing impairment
OMIM:244400	RSPH3	83861	HP:0011109	Chronic sinusitis
OMIM:244400	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:244400	RSPH3	83861	HP:0000458	Anosmia
OMIM:244400	RSPH3	83861	HP:0002090	Pneumonia
OMIM:244400	RSPH3	83861	HP:0002315	Headache
OMIM:244400	RSPH3	83861	HP:0003251	Male infertility
OMIM:244400	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:244400	RSPH3	83861	HP:0000246	Sinusitis
OMIM:244400	RSPH3	83861	HP:0000481	Abnormality of the cornea
OMIM:244400	RSPH3	83861	HP:0001425	Heterogeneous
OMIM:244400	RSPH3	83861	HP:0012263	Immotile cilia
OMIM:244400	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:244400	RPGR	6103	HP:0000405	Conductive hearing impairment
OMIM:244400	RPGR	6103	HP:0011109	Chronic sinusitis
OMIM:244400	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:244400	RPGR	6103	HP:0000458	Anosmia
OMIM:244400	RPGR	6103	HP:0002090	Pneumonia
OMIM:244400	RPGR	6103	HP:0002315	Headache
OMIM:244400	RPGR	6103	HP:0003251	Male infertility
OMIM:244400	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:244400	RPGR	6103	HP:0000246	Sinusitis
OMIM:244400	RPGR	6103	HP:0000481	Abnormality of the cornea
OMIM:244400	RPGR	6103	HP:0001425	Heterogeneous
OMIM:244400	RPGR	6103	HP:0012263	Immotile cilia
OMIM:244400	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:244400	LRRC6	23639	HP:0000405	Conductive hearing impairment
OMIM:244400	LRRC6	23639	HP:0011109	Chronic sinusitis
OMIM:244400	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:244400	LRRC6	23639	HP:0000458	Anosmia
OMIM:244400	LRRC6	23639	HP:0002090	Pneumonia
OMIM:244400	LRRC6	23639	HP:0002315	Headache
OMIM:244400	LRRC6	23639	HP:0003251	Male infertility
OMIM:244400	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:244400	LRRC6	23639	HP:0000246	Sinusitis
OMIM:244400	LRRC6	23639	HP:0000481	Abnormality of the cornea
OMIM:244400	LRRC6	23639	HP:0001425	Heterogeneous
OMIM:244400	LRRC6	23639	HP:0012263	Immotile cilia
OMIM:244400	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:244400	DNAL1	83544	HP:0000405	Conductive hearing impairment
OMIM:244400	DNAL1	83544	HP:0011109	Chronic sinusitis
OMIM:244400	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:244400	DNAL1	83544	HP:0000458	Anosmia
OMIM:244400	DNAL1	83544	HP:0002090	Pneumonia
OMIM:244400	DNAL1	83544	HP:0002315	Headache
OMIM:244400	DNAL1	83544	HP:0003251	Male infertility
OMIM:244400	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:244400	DNAL1	83544	HP:0000246	Sinusitis
OMIM:244400	DNAL1	83544	HP:0000481	Abnormality of the cornea
OMIM:244400	DNAL1	83544	HP:0001425	Heterogeneous
OMIM:244400	DNAL1	83544	HP:0012263	Immotile cilia
OMIM:244400	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:244400	ARMC4	55130	HP:0000405	Conductive hearing impairment
OMIM:244400	ARMC4	55130	HP:0011109	Chronic sinusitis
OMIM:244400	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:244400	ARMC4	55130	HP:0000458	Anosmia
OMIM:244400	ARMC4	55130	HP:0002090	Pneumonia
OMIM:244400	ARMC4	55130	HP:0002315	Headache
OMIM:244400	ARMC4	55130	HP:0003251	Male infertility
OMIM:244400	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:244400	ARMC4	55130	HP:0000246	Sinusitis
OMIM:244400	ARMC4	55130	HP:0000481	Abnormality of the cornea
OMIM:244400	ARMC4	55130	HP:0001425	Heterogeneous
OMIM:244400	ARMC4	55130	HP:0012263	Immotile cilia
OMIM:244400	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:244400	CCDC103	388389	HP:0000405	Conductive hearing impairment
OMIM:244400	CCDC103	388389	HP:0011109	Chronic sinusitis
OMIM:244400	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:244400	CCDC103	388389	HP:0000458	Anosmia
OMIM:244400	CCDC103	388389	HP:0002090	Pneumonia
OMIM:244400	CCDC103	388389	HP:0002315	Headache
OMIM:244400	CCDC103	388389	HP:0003251	Male infertility
OMIM:244400	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:244400	CCDC103	388389	HP:0000246	Sinusitis
OMIM:244400	CCDC103	388389	HP:0000481	Abnormality of the cornea
OMIM:244400	CCDC103	388389	HP:0001425	Heterogeneous
OMIM:244400	CCDC103	388389	HP:0012263	Immotile cilia
OMIM:244400	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:244400	OFD1	8481	HP:0000405	Conductive hearing impairment
OMIM:244400	OFD1	8481	HP:0011109	Chronic sinusitis
OMIM:244400	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:244400	OFD1	8481	HP:0000458	Anosmia
OMIM:244400	OFD1	8481	HP:0002090	Pneumonia
OMIM:244400	OFD1	8481	HP:0002315	Headache
OMIM:244400	OFD1	8481	HP:0003251	Male infertility
OMIM:244400	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:244400	OFD1	8481	HP:0000246	Sinusitis
OMIM:244400	OFD1	8481	HP:0000481	Abnormality of the cornea
OMIM:244400	OFD1	8481	HP:0001425	Heterogeneous
OMIM:244400	OFD1	8481	HP:0012263	Immotile cilia
OMIM:244400	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:244400	DNAAF1	123872	HP:0000405	Conductive hearing impairment
OMIM:244400	DNAAF1	123872	HP:0011109	Chronic sinusitis
OMIM:244400	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:244400	DNAAF1	123872	HP:0000458	Anosmia
OMIM:244400	DNAAF1	123872	HP:0002090	Pneumonia
OMIM:244400	DNAAF1	123872	HP:0002315	Headache
OMIM:244400	DNAAF1	123872	HP:0003251	Male infertility
OMIM:244400	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:244400	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:244400	DNAAF1	123872	HP:0000481	Abnormality of the cornea
OMIM:244400	DNAAF1	123872	HP:0001425	Heterogeneous
OMIM:244400	DNAAF1	123872	HP:0012263	Immotile cilia
OMIM:244400	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:244400	RSPH4A	345895	HP:0000405	Conductive hearing impairment
OMIM:244400	RSPH4A	345895	HP:0011109	Chronic sinusitis
OMIM:244400	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:244400	RSPH4A	345895	HP:0000458	Anosmia
OMIM:244400	RSPH4A	345895	HP:0002090	Pneumonia
OMIM:244400	RSPH4A	345895	HP:0002315	Headache
OMIM:244400	RSPH4A	345895	HP:0003251	Male infertility
OMIM:244400	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:244400	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:244400	RSPH4A	345895	HP:0000481	Abnormality of the cornea
OMIM:244400	RSPH4A	345895	HP:0001425	Heterogeneous
OMIM:244400	RSPH4A	345895	HP:0012263	Immotile cilia
OMIM:244400	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:244400	RSPH1	89765	HP:0000405	Conductive hearing impairment
OMIM:244400	RSPH1	89765	HP:0011109	Chronic sinusitis
OMIM:244400	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:244400	RSPH1	89765	HP:0000458	Anosmia
OMIM:244400	RSPH1	89765	HP:0002090	Pneumonia
OMIM:244400	RSPH1	89765	HP:0002315	Headache
OMIM:244400	RSPH1	89765	HP:0003251	Male infertility
OMIM:244400	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:244400	RSPH1	89765	HP:0000246	Sinusitis
OMIM:244400	RSPH1	89765	HP:0000481	Abnormality of the cornea
OMIM:244400	RSPH1	89765	HP:0001425	Heterogeneous
OMIM:244400	RSPH1	89765	HP:0012263	Immotile cilia
OMIM:244400	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:244400	ZMYND10	51364	HP:0000405	Conductive hearing impairment
OMIM:244400	ZMYND10	51364	HP:0011109	Chronic sinusitis
OMIM:244400	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:244400	ZMYND10	51364	HP:0000458	Anosmia
OMIM:244400	ZMYND10	51364	HP:0002090	Pneumonia
OMIM:244400	ZMYND10	51364	HP:0002315	Headache
OMIM:244400	ZMYND10	51364	HP:0003251	Male infertility
OMIM:244400	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:244400	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:244400	ZMYND10	51364	HP:0000481	Abnormality of the cornea
OMIM:244400	ZMYND10	51364	HP:0001425	Heterogeneous
OMIM:244400	ZMYND10	51364	HP:0012263	Immotile cilia
OMIM:244400	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:244400	DNAH5	1767	HP:0000405	Conductive hearing impairment
OMIM:244400	DNAH5	1767	HP:0011109	Chronic sinusitis
OMIM:244400	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:244400	DNAH5	1767	HP:0000458	Anosmia
OMIM:244400	DNAH5	1767	HP:0002090	Pneumonia
OMIM:244400	DNAH5	1767	HP:0002315	Headache
OMIM:244400	DNAH5	1767	HP:0003251	Male infertility
OMIM:244400	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:244400	DNAH5	1767	HP:0000246	Sinusitis
OMIM:244400	DNAH5	1767	HP:0000481	Abnormality of the cornea
OMIM:244400	DNAH5	1767	HP:0001425	Heterogeneous
OMIM:244400	DNAH5	1767	HP:0012263	Immotile cilia
OMIM:244400	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:244400	CCDC65	85478	HP:0000405	Conductive hearing impairment
OMIM:244400	CCDC65	85478	HP:0011109	Chronic sinusitis
OMIM:244400	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:244400	CCDC65	85478	HP:0000458	Anosmia
OMIM:244400	CCDC65	85478	HP:0002090	Pneumonia
OMIM:244400	CCDC65	85478	HP:0002315	Headache
OMIM:244400	CCDC65	85478	HP:0003251	Male infertility
OMIM:244400	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:244400	CCDC65	85478	HP:0000246	Sinusitis
OMIM:244400	CCDC65	85478	HP:0000481	Abnormality of the cornea
OMIM:244400	CCDC65	85478	HP:0001425	Heterogeneous
OMIM:244400	CCDC65	85478	HP:0012263	Immotile cilia
OMIM:244400	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:244400	C21ORF59	56683	HP:0000405	Conductive hearing impairment
OMIM:244400	C21ORF59	56683	HP:0011109	Chronic sinusitis
OMIM:244400	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:244400	C21ORF59	56683	HP:0000458	Anosmia
OMIM:244400	C21ORF59	56683	HP:0002090	Pneumonia
OMIM:244400	C21ORF59	56683	HP:0002315	Headache
OMIM:244400	C21ORF59	56683	HP:0003251	Male infertility
OMIM:244400	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:244400	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:244400	C21ORF59	56683	HP:0000481	Abnormality of the cornea
OMIM:244400	C21ORF59	56683	HP:0001425	Heterogeneous
OMIM:244400	C21ORF59	56683	HP:0012263	Immotile cilia
OMIM:244400	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:244400	DYX1C1	161582	HP:0000405	Conductive hearing impairment
OMIM:244400	DYX1C1	161582	HP:0011109	Chronic sinusitis
OMIM:244400	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:244400	DYX1C1	161582	HP:0000458	Anosmia
OMIM:244400	DYX1C1	161582	HP:0002090	Pneumonia
OMIM:244400	DYX1C1	161582	HP:0002315	Headache
OMIM:244400	DYX1C1	161582	HP:0003251	Male infertility
OMIM:244400	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:244400	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:244400	DYX1C1	161582	HP:0000481	Abnormality of the cornea
OMIM:244400	DYX1C1	161582	HP:0001425	Heterogeneous
OMIM:244400	DYX1C1	161582	HP:0012263	Immotile cilia
OMIM:244400	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:244400	CCDC151	115948	HP:0000405	Conductive hearing impairment
OMIM:244400	CCDC151	115948	HP:0011109	Chronic sinusitis
OMIM:244400	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:244400	CCDC151	115948	HP:0000458	Anosmia
OMIM:244400	CCDC151	115948	HP:0002090	Pneumonia
OMIM:244400	CCDC151	115948	HP:0002315	Headache
OMIM:244400	CCDC151	115948	HP:0003251	Male infertility
OMIM:244400	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:244400	CCDC151	115948	HP:0000246	Sinusitis
OMIM:244400	CCDC151	115948	HP:0000481	Abnormality of the cornea
OMIM:244400	CCDC151	115948	HP:0001425	Heterogeneous
OMIM:244400	CCDC151	115948	HP:0012263	Immotile cilia
OMIM:244400	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:244400	RSPH9	221421	HP:0000405	Conductive hearing impairment
OMIM:244400	RSPH9	221421	HP:0011109	Chronic sinusitis
OMIM:244400	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:244400	RSPH9	221421	HP:0000458	Anosmia
OMIM:244400	RSPH9	221421	HP:0002090	Pneumonia
OMIM:244400	RSPH9	221421	HP:0002315	Headache
OMIM:244400	RSPH9	221421	HP:0003251	Male infertility
OMIM:244400	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:244400	RSPH9	221421	HP:0000246	Sinusitis
OMIM:244400	RSPH9	221421	HP:0000481	Abnormality of the cornea
OMIM:244400	RSPH9	221421	HP:0001425	Heterogeneous
OMIM:244400	RSPH9	221421	HP:0012263	Immotile cilia
OMIM:244400	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:244400	CCDC39	339829	HP:0000405	Conductive hearing impairment
OMIM:244400	CCDC39	339829	HP:0011109	Chronic sinusitis
OMIM:244400	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:244400	CCDC39	339829	HP:0000458	Anosmia
OMIM:244400	CCDC39	339829	HP:0002090	Pneumonia
OMIM:244400	CCDC39	339829	HP:0002315	Headache
OMIM:244400	CCDC39	339829	HP:0003251	Male infertility
OMIM:244400	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:244400	CCDC39	339829	HP:0000246	Sinusitis
OMIM:244400	CCDC39	339829	HP:0000481	Abnormality of the cornea
OMIM:244400	CCDC39	339829	HP:0001425	Heterogeneous
OMIM:244400	CCDC39	339829	HP:0012263	Immotile cilia
OMIM:244400	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:244400	HYDIN	54768	HP:0000405	Conductive hearing impairment
OMIM:244400	HYDIN	54768	HP:0011109	Chronic sinusitis
OMIM:244400	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:244400	HYDIN	54768	HP:0000458	Anosmia
OMIM:244400	HYDIN	54768	HP:0002090	Pneumonia
OMIM:244400	HYDIN	54768	HP:0002315	Headache
OMIM:244400	HYDIN	54768	HP:0003251	Male infertility
OMIM:244400	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:244400	HYDIN	54768	HP:0000246	Sinusitis
OMIM:244400	HYDIN	54768	HP:0000481	Abnormality of the cornea
OMIM:244400	HYDIN	54768	HP:0001425	Heterogeneous
OMIM:244400	HYDIN	54768	HP:0012263	Immotile cilia
OMIM:244400	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:244400	CCDC114	93233	HP:0000405	Conductive hearing impairment
OMIM:244400	CCDC114	93233	HP:0011109	Chronic sinusitis
OMIM:244400	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:244400	CCDC114	93233	HP:0000458	Anosmia
OMIM:244400	CCDC114	93233	HP:0002090	Pneumonia
OMIM:244400	CCDC114	93233	HP:0002315	Headache
OMIM:244400	CCDC114	93233	HP:0003251	Male infertility
OMIM:244400	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:244400	CCDC114	93233	HP:0000246	Sinusitis
OMIM:244400	CCDC114	93233	HP:0000481	Abnormality of the cornea
OMIM:244400	CCDC114	93233	HP:0001425	Heterogeneous
OMIM:244400	CCDC114	93233	HP:0012263	Immotile cilia
OMIM:244400	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:244400	NME8	51314	HP:0000405	Conductive hearing impairment
OMIM:244400	NME8	51314	HP:0011109	Chronic sinusitis
OMIM:244400	NME8	51314	HP:0002110	Bronchiectasis
OMIM:244400	NME8	51314	HP:0000458	Anosmia
OMIM:244400	NME8	51314	HP:0002090	Pneumonia
OMIM:244400	NME8	51314	HP:0002315	Headache
OMIM:244400	NME8	51314	HP:0003251	Male infertility
OMIM:244400	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:244400	NME8	51314	HP:0000246	Sinusitis
OMIM:244400	NME8	51314	HP:0000481	Abnormality of the cornea
OMIM:244400	NME8	51314	HP:0001425	Heterogeneous
OMIM:244400	NME8	51314	HP:0012263	Immotile cilia
OMIM:244400	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:244400	CCDC40	55036	HP:0000405	Conductive hearing impairment
OMIM:244400	CCDC40	55036	HP:0011109	Chronic sinusitis
OMIM:244400	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:244400	CCDC40	55036	HP:0000458	Anosmia
OMIM:244400	CCDC40	55036	HP:0002090	Pneumonia
OMIM:244400	CCDC40	55036	HP:0002315	Headache
OMIM:244400	CCDC40	55036	HP:0003251	Male infertility
OMIM:244400	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:244400	CCDC40	55036	HP:0000246	Sinusitis
OMIM:244400	CCDC40	55036	HP:0000481	Abnormality of the cornea
OMIM:244400	CCDC40	55036	HP:0001425	Heterogeneous
OMIM:244400	CCDC40	55036	HP:0012263	Immotile cilia
OMIM:244400	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:244400	DNAH11	8701	HP:0000405	Conductive hearing impairment
OMIM:244400	DNAH11	8701	HP:0011109	Chronic sinusitis
OMIM:244400	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:244400	DNAH11	8701	HP:0000458	Anosmia
OMIM:244400	DNAH11	8701	HP:0002090	Pneumonia
OMIM:244400	DNAH11	8701	HP:0002315	Headache
OMIM:244400	DNAH11	8701	HP:0003251	Male infertility
OMIM:244400	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:244400	DNAH11	8701	HP:0000246	Sinusitis
OMIM:244400	DNAH11	8701	HP:0000481	Abnormality of the cornea
OMIM:244400	DNAH11	8701	HP:0001425	Heterogeneous
OMIM:244400	DNAH11	8701	HP:0012263	Immotile cilia
OMIM:244400	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:244400	DNAI2	64446	HP:0000405	Conductive hearing impairment
OMIM:244400	DNAI2	64446	HP:0011109	Chronic sinusitis
OMIM:244400	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:244400	DNAI2	64446	HP:0000458	Anosmia
OMIM:244400	DNAI2	64446	HP:0002090	Pneumonia
OMIM:244400	DNAI2	64446	HP:0002315	Headache
OMIM:244400	DNAI2	64446	HP:0003251	Male infertility
OMIM:244400	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:244400	DNAI2	64446	HP:0000246	Sinusitis
OMIM:244400	DNAI2	64446	HP:0000481	Abnormality of the cornea
OMIM:244400	DNAI2	64446	HP:0001425	Heterogeneous
OMIM:244400	DNAI2	64446	HP:0012263	Immotile cilia
OMIM:244400	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:244400	GAS8	2622	HP:0000405	Conductive hearing impairment
OMIM:244400	GAS8	2622	HP:0011109	Chronic sinusitis
OMIM:244400	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:244400	GAS8	2622	HP:0000458	Anosmia
OMIM:244400	GAS8	2622	HP:0002090	Pneumonia
OMIM:244400	GAS8	2622	HP:0002315	Headache
OMIM:244400	GAS8	2622	HP:0003251	Male infertility
OMIM:244400	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:244400	GAS8	2622	HP:0000246	Sinusitis
OMIM:244400	GAS8	2622	HP:0000481	Abnormality of the cornea
OMIM:244400	GAS8	2622	HP:0001425	Heterogeneous
OMIM:244400	GAS8	2622	HP:0012263	Immotile cilia
OMIM:244400	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:608709	LMNB2	84823	HP:0000790	Hematuria
OMIM:608709	LMNB2	84823	HP:0003621	Juvenile onset
OMIM:608709	LMNB2	84823	HP:0002719	Recurrent infections
OMIM:608709	LMNB2	84823	HP:0000855	Insulin resistance
OMIM:608709	LMNB2	84823	HP:0000998	Hypertrichosis
OMIM:608709	LMNB2	84823	HP:0000093	Proteinuria
OMIM:608709	LMNB2	84823	HP:0001397	Hepatic steatosis
OMIM:608709	LMNB2	84823	HP:0005421	Decreased serum complement C3
OMIM:608709	LMNB2	84823	HP:0000006	Autosomal dominant inheritance
OMIM:608709	LMNB2	84823	HP:0000100	Nephrotic syndrome
OMIM:608709	LMNB2	84823	HP:0003745	Sporadic
OMIM:608709	LMNB2	84823	HP:0007495	Prematurely aged appearance
OMIM:608709	LMNB2	84823	HP:0100543	Cognitive impairment
OMIM:608709	LMNB2	84823	HP:0003119	Abnormality of lipid metabolism
OMIM:608709	LMNB2	84823	HP:0100578	Lipoatrophy
OMIM:608709	LMNB2	84823	HP:0002829	Arthralgia
OMIM:608709	LMNB2	84823	HP:0002960	Autoimmunity
OMIM:608709	LMNB2	84823	HP:0001250	Seizures
OMIM:608709	LMNB2	84823	HP:0005339	Abnormality of complement system
OMIM:608709	LMNB2	84823	HP:0003812	Phenotypic variability
OMIM:608709	LMNB2	84823	HP:0001007	Hirsutism
OMIM:608709	LMNB2	84823	HP:0000365	Hearing impairment
OMIM:608709	LMNB2	84823	HP:0000819	Diabetes mellitus
OMIM:608709	LMNB2	84823	HP:0000147	Polycystic ovaries
OMIM:608709	LMNB2	84823	HP:0003198	Myopathy
ORPHANET:667	CLCN7	1186	HP:0002104	Apnea
ORPHANET:667	CLCN7	1186	HP:0001363	Craniosynostosis
ORPHANET:667	CLCN7	1186	HP:0001744	Splenomegaly
ORPHANET:667	CLCN7	1186	HP:0000648	Optic atrophy
ORPHANET:667	CLCN7	1186	HP:0000774	Narrow chest
ORPHANET:667	CLCN7	1186	HP:0000978	Bruising susceptibility
ORPHANET:667	CLCN7	1186	HP:0002716	Lymphadenopathy
ORPHANET:667	CLCN7	1186	HP:0002240	Hepatomegaly
ORPHANET:667	CLCN7	1186	HP:0000256	Macrocephaly
ORPHANET:667	CLCN7	1186	HP:0002757	Recurrent fractures
ORPHANET:667	CLCN7	1186	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:667	CLCN7	1186	HP:0002653	Bone pain
ORPHANET:667	CLCN7	1186	HP:0006487	Bowing of the long bones
ORPHANET:667	CLCN7	1186	HP:0006824	Cranial nerve paralysis
ORPHANET:667	CLCN7	1186	HP:0011001	Increased bone mineral density
ORPHANET:667	CLCN7	1186	HP:0010719	Abnormality of hair texture
ORPHANET:667	CLCN7	1186	HP:0001337	Tremor
ORPHANET:667	CLCN7	1186	HP:0000639	Nystagmus
ORPHANET:667	CLCN7	1186	HP:0002148	Hypophosphatemia
ORPHANET:667	CLCN7	1186	HP:0002901	Hypocalcemia
ORPHANET:667	CLCN7	1186	HP:0100543	Cognitive impairment
ORPHANET:667	CLCN7	1186	HP:0000980	Pallor
ORPHANET:667	CLCN7	1186	HP:0002205	Recurrent respiratory infections
ORPHANET:667	CLCN7	1186	HP:0000772	Abnormality of the ribs
ORPHANET:667	CLCN7	1186	HP:0000684	Delayed eruption of teeth
ORPHANET:667	CLCN7	1186	HP:0000246	Sinusitis
ORPHANET:667	CLCN7	1186	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:667	CLCN7	1186	HP:0001903	Anemia
ORPHANET:667	CLCN7	1186	HP:0000238	Hydrocephalus
ORPHANET:667	CLCN7	1186	HP:0000365	Hearing impairment
ORPHANET:667	CLCN7	1186	HP:0000649	Abnormality of visual evoked potentials
ORPHANET:667	CLCN7	1186	HP:0004349	Reduced bone mineral density
ORPHANET:667	CLCN7	1186	HP:0000505	Visual impairment
ORPHANET:667	CLCN7	1186	HP:0003202	Skeletal muscle atrophy
ORPHANET:667	CLCN7	1186	HP:0000944	Abnormality of the metaphyses
ORPHANET:667	CLCN7	1186	HP:0001928	Abnormality of coagulation
ORPHANET:667	CLCN7	1186	HP:0004370	Abnormality of temperature regulation
ORPHANET:667	TCIRG1	10312	HP:0002104	Apnea
ORPHANET:667	TCIRG1	10312	HP:0001363	Craniosynostosis
ORPHANET:667	TCIRG1	10312	HP:0001744	Splenomegaly
ORPHANET:667	TCIRG1	10312	HP:0000648	Optic atrophy
ORPHANET:667	TCIRG1	10312	HP:0000774	Narrow chest
ORPHANET:667	TCIRG1	10312	HP:0000978	Bruising susceptibility
ORPHANET:667	TCIRG1	10312	HP:0002716	Lymphadenopathy
ORPHANET:667	TCIRG1	10312	HP:0002240	Hepatomegaly
ORPHANET:667	TCIRG1	10312	HP:0000256	Macrocephaly
ORPHANET:667	TCIRG1	10312	HP:0002757	Recurrent fractures
ORPHANET:667	TCIRG1	10312	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:667	TCIRG1	10312	HP:0002653	Bone pain
ORPHANET:667	TCIRG1	10312	HP:0006487	Bowing of the long bones
ORPHANET:667	TCIRG1	10312	HP:0006824	Cranial nerve paralysis
ORPHANET:667	TCIRG1	10312	HP:0011001	Increased bone mineral density
ORPHANET:667	TCIRG1	10312	HP:0010719	Abnormality of hair texture
ORPHANET:667	TCIRG1	10312	HP:0001337	Tremor
ORPHANET:667	TCIRG1	10312	HP:0000639	Nystagmus
ORPHANET:667	TCIRG1	10312	HP:0002148	Hypophosphatemia
ORPHANET:667	TCIRG1	10312	HP:0002901	Hypocalcemia
ORPHANET:667	TCIRG1	10312	HP:0100543	Cognitive impairment
ORPHANET:667	TCIRG1	10312	HP:0000980	Pallor
ORPHANET:667	TCIRG1	10312	HP:0002205	Recurrent respiratory infections
ORPHANET:667	TCIRG1	10312	HP:0000772	Abnormality of the ribs
ORPHANET:667	TCIRG1	10312	HP:0000684	Delayed eruption of teeth
ORPHANET:667	TCIRG1	10312	HP:0000246	Sinusitis
ORPHANET:667	TCIRG1	10312	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:667	TCIRG1	10312	HP:0001903	Anemia
ORPHANET:667	TCIRG1	10312	HP:0000238	Hydrocephalus
ORPHANET:667	TCIRG1	10312	HP:0000365	Hearing impairment
ORPHANET:667	TCIRG1	10312	HP:0000649	Abnormality of visual evoked potentials
ORPHANET:667	TCIRG1	10312	HP:0004349	Reduced bone mineral density
ORPHANET:667	TCIRG1	10312	HP:0000505	Visual impairment
ORPHANET:667	TCIRG1	10312	HP:0003202	Skeletal muscle atrophy
ORPHANET:667	TCIRG1	10312	HP:0000944	Abnormality of the metaphyses
ORPHANET:667	TCIRG1	10312	HP:0001928	Abnormality of coagulation
ORPHANET:667	TCIRG1	10312	HP:0004370	Abnormality of temperature regulation
ORPHANET:667	TNFSF11	8600	HP:0002104	Apnea
ORPHANET:667	TNFSF11	8600	HP:0001363	Craniosynostosis
ORPHANET:667	TNFSF11	8600	HP:0001744	Splenomegaly
ORPHANET:667	TNFSF11	8600	HP:0000648	Optic atrophy
ORPHANET:667	TNFSF11	8600	HP:0000774	Narrow chest
ORPHANET:667	TNFSF11	8600	HP:0000978	Bruising susceptibility
ORPHANET:667	TNFSF11	8600	HP:0002716	Lymphadenopathy
ORPHANET:667	TNFSF11	8600	HP:0002240	Hepatomegaly
ORPHANET:667	TNFSF11	8600	HP:0000256	Macrocephaly
ORPHANET:667	TNFSF11	8600	HP:0002757	Recurrent fractures
ORPHANET:667	TNFSF11	8600	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:667	TNFSF11	8600	HP:0002653	Bone pain
ORPHANET:667	TNFSF11	8600	HP:0006487	Bowing of the long bones
ORPHANET:667	TNFSF11	8600	HP:0006824	Cranial nerve paralysis
ORPHANET:667	TNFSF11	8600	HP:0011001	Increased bone mineral density
ORPHANET:667	TNFSF11	8600	HP:0010719	Abnormality of hair texture
ORPHANET:667	TNFSF11	8600	HP:0001337	Tremor
ORPHANET:667	TNFSF11	8600	HP:0000639	Nystagmus
ORPHANET:667	TNFSF11	8600	HP:0002148	Hypophosphatemia
ORPHANET:667	TNFSF11	8600	HP:0002901	Hypocalcemia
ORPHANET:667	TNFSF11	8600	HP:0100543	Cognitive impairment
ORPHANET:667	TNFSF11	8600	HP:0000980	Pallor
ORPHANET:667	TNFSF11	8600	HP:0002205	Recurrent respiratory infections
ORPHANET:667	TNFSF11	8600	HP:0000772	Abnormality of the ribs
ORPHANET:667	TNFSF11	8600	HP:0000684	Delayed eruption of teeth
ORPHANET:667	TNFSF11	8600	HP:0000246	Sinusitis
ORPHANET:667	TNFSF11	8600	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:667	TNFSF11	8600	HP:0001903	Anemia
ORPHANET:667	TNFSF11	8600	HP:0000238	Hydrocephalus
ORPHANET:667	TNFSF11	8600	HP:0000365	Hearing impairment
ORPHANET:667	TNFSF11	8600	HP:0000649	Abnormality of visual evoked potentials
ORPHANET:667	TNFSF11	8600	HP:0004349	Reduced bone mineral density
ORPHANET:667	TNFSF11	8600	HP:0000505	Visual impairment
ORPHANET:667	TNFSF11	8600	HP:0003202	Skeletal muscle atrophy
ORPHANET:667	TNFSF11	8600	HP:0000944	Abnormality of the metaphyses
ORPHANET:667	TNFSF11	8600	HP:0001928	Abnormality of coagulation
ORPHANET:667	TNFSF11	8600	HP:0004370	Abnormality of temperature regulation
ORPHANET:667	SNX10	29887	HP:0002104	Apnea
ORPHANET:667	SNX10	29887	HP:0001363	Craniosynostosis
ORPHANET:667	SNX10	29887	HP:0001744	Splenomegaly
ORPHANET:667	SNX10	29887	HP:0000648	Optic atrophy
ORPHANET:667	SNX10	29887	HP:0000774	Narrow chest
ORPHANET:667	SNX10	29887	HP:0000978	Bruising susceptibility
ORPHANET:667	SNX10	29887	HP:0002716	Lymphadenopathy
ORPHANET:667	SNX10	29887	HP:0002240	Hepatomegaly
ORPHANET:667	SNX10	29887	HP:0000256	Macrocephaly
ORPHANET:667	SNX10	29887	HP:0002757	Recurrent fractures
ORPHANET:667	SNX10	29887	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:667	SNX10	29887	HP:0002653	Bone pain
ORPHANET:667	SNX10	29887	HP:0006487	Bowing of the long bones
ORPHANET:667	SNX10	29887	HP:0006824	Cranial nerve paralysis
ORPHANET:667	SNX10	29887	HP:0011001	Increased bone mineral density
ORPHANET:667	SNX10	29887	HP:0010719	Abnormality of hair texture
ORPHANET:667	SNX10	29887	HP:0001337	Tremor
ORPHANET:667	SNX10	29887	HP:0000639	Nystagmus
ORPHANET:667	SNX10	29887	HP:0002148	Hypophosphatemia
ORPHANET:667	SNX10	29887	HP:0002901	Hypocalcemia
ORPHANET:667	SNX10	29887	HP:0100543	Cognitive impairment
ORPHANET:667	SNX10	29887	HP:0000980	Pallor
ORPHANET:667	SNX10	29887	HP:0002205	Recurrent respiratory infections
ORPHANET:667	SNX10	29887	HP:0000772	Abnormality of the ribs
ORPHANET:667	SNX10	29887	HP:0000684	Delayed eruption of teeth
ORPHANET:667	SNX10	29887	HP:0000246	Sinusitis
ORPHANET:667	SNX10	29887	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:667	SNX10	29887	HP:0001903	Anemia
ORPHANET:667	SNX10	29887	HP:0000238	Hydrocephalus
ORPHANET:667	SNX10	29887	HP:0000365	Hearing impairment
ORPHANET:667	SNX10	29887	HP:0000649	Abnormality of visual evoked potentials
ORPHANET:667	SNX10	29887	HP:0004349	Reduced bone mineral density
ORPHANET:667	SNX10	29887	HP:0000505	Visual impairment
ORPHANET:667	SNX10	29887	HP:0003202	Skeletal muscle atrophy
ORPHANET:667	SNX10	29887	HP:0000944	Abnormality of the metaphyses
ORPHANET:667	SNX10	29887	HP:0001928	Abnormality of coagulation
ORPHANET:667	SNX10	29887	HP:0004370	Abnormality of temperature regulation
ORPHANET:1359	PRKAR1A	5573	HP:0001176	Large hands
ORPHANET:1359	PRKAR1A	5573	HP:0009124	Abnormality of adipose tissue
ORPHANET:1359	PRKAR1A	5573	HP:0008069	Neoplasm of the skin
ORPHANET:1359	PRKAR1A	5573	HP:0002829	Arthralgia
ORPHANET:1359	PRKAR1A	5573	HP:0002637	Cerebral ischemia
ORPHANET:1359	PRKAR1A	5573	HP:0100013	Neoplasm of the breast
ORPHANET:1359	PRKAR1A	5573	HP:0000826	Precocious puberty
ORPHANET:1359	PRKAR1A	5573	HP:0000995	Melanocytic nevus
ORPHANET:1359	PRKAR1A	5573	HP:0001578	Hypercortisolism
ORPHANET:1359	PRKAR1A	5573	HP:0000845	Growth hormone excess
ORPHANET:1359	PRKAR1A	5573	HP:0001824	Weight loss
ORPHANET:1359	PRKAR1A	5573	HP:0001645	Sudden cardiac death
ORPHANET:1359	PRKAR1A	5573	HP:0004349	Reduced bone mineral density
ORPHANET:1359	PRKAR1A	5573	HP:0004375	Neoplasm of the nervous system
ORPHANET:1359	PRKAR1A	5573	HP:0000280	Coarse facial features
ORPHANET:1359	PRKAR1A	5573	HP:0100031	Neoplasm of the thyroid gland
ORPHANET:1359	PRKAR1A	5573	HP:0001903	Anemia
ORPHANET:1359	PRKAR1A	5573	HP:0001956	Truncal obesity
ORPHANET:1359	PRKAR1A	5573	HP:0000963	Thin skin
ORPHANET:1359	PRKAR1A	5573	HP:0002758	Osteoarthritis
ORPHANET:1359	PRKAR1A	5573	HP:0000028	Cryptorchidism
ORPHANET:1359	PRKAR1A	5573	HP:0100615	Ovarian neoplasm
ORPHANET:1359	PRKAR1A	5573	HP:0001065	Striae distensae
ORPHANET:1359	PRKAR1A	5573	HP:0004370	Abnormality of temperature regulation
ORPHANET:1359	PRKAR1A	5573	HP:0000998	Hypertrichosis
ORPHANET:1359	PRKAR1A	5573	HP:0000098	Tall stature
ORPHANET:1359	PRKAR1A	5573	HP:0005978	Type II diabetes mellitus
ORPHANET:1359	PRKAR1A	5573	HP:0001718	Mitral stenosis
ORPHANET:1359	PRKAR1A	5573	HP:0000822	Hypertension
ORPHANET:1359	PRKAR1A	5573	HP:0002808	Kyphosis
ORPHANET:1359	PRKAR1A	5573	HP:0000708	Behavioral abnormality
ORPHANET:1359	PRKAR1A	5573	HP:0010788	Testicular neoplasm
ORPHANET:1359	PRKAR1A	5573	HP:0100543	Cognitive impairment
ORPHANET:1359	PRKAR1A	5573	HP:0003202	Skeletal muscle atrophy
ORPHANET:1359	PRKAR1A	5573	HP:0000311	Round face
ORPHANET:1359	PRKAR1A	5573	HP:0001635	Congestive heart failure
OMIM:206900	SOX2	6657	HP:0000568	Microphthalmia
OMIM:206900	SOX2	6657	HP:0008897	Postnatal growth retardation
OMIM:206900	SOX2	6657	HP:0002079	Hypoplasia of the corpus callosum
OMIM:206900	SOX2	6657	HP:0000006	Autosomal dominant inheritance
OMIM:206900	SOX2	6657	HP:0002510	Spastic tetraplegia
OMIM:206900	SOX2	6657	HP:0000772	Abnormality of the ribs
OMIM:206900	SOX2	6657	HP:0002575	Tracheoesophageal fistula
OMIM:206900	SOX2	6657	HP:0002948	Vertebral fusion
OMIM:206900	SOX2	6657	HP:0002937	Hemivertebrae
OMIM:206900	SOX2	6657	HP:0001274	Agenesis of corpus callosum
OMIM:206900	SOX2	6657	HP:0001629	Ventricular septal defect
OMIM:206900	SOX2	6657	HP:0000028	Cryptorchidism
OMIM:206900	SOX2	6657	HP:0003312	Abnormal form of the vertebral bodies
OMIM:206900	SOX2	6657	HP:0008736	Hypoplasia of penis
OMIM:206900	SOX2	6657	HP:0001252	Muscular hypotonia
OMIM:206900	SOX2	6657	HP:0000609	Optic nerve hypoplasia
OMIM:206900	SOX2	6657	HP:0000505	Visual impairment
OMIM:206900	SOX2	6657	HP:0000647	Sclerocornea
OMIM:206900	SOX2	6657	HP:0000047	Hypospadias
OMIM:206900	SOX2	6657	HP:0001643	Patent ductus arteriosus
OMIM:206900	SOX2	6657	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:206900	SOX2	6657	HP:0100627	Displacement of the external urethral meatus
OMIM:206900	SOX2	6657	HP:0000528	Anophthalmia
OMIM:206900	SOX2	6657	HP:0000054	Micropenis
OMIM:206900	SOX2	6657	HP:0002007	Frontal bossing
OMIM:206900	SOX2	6657	HP:0000589	Coloboma
OMIM:206900	SOX2	6657	HP:0004322	Short stature
OMIM:206900	SOX2	6657	HP:0000407	Sensorineural hearing impairment
OMIM:206900	SOX2	6657	HP:0001328	Specific learning disability
OMIM:206900	SOX2	6657	HP:0001263	Global developmental delay
OMIM:206900	SOX2	6657	HP:0000612	Iris coloboma
OMIM:206900	SOX2	6657	HP:0008572	External ear malformation
OMIM:206900	SOX2	6657	HP:0000921	Missing ribs
OMIM:206900	SOX2	6657	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:206900	SOX2	6657	HP:0000252	Microcephaly
OMIM:206900	SOX2	6657	HP:0002032	Esophageal atresia
OMIM:206900	SOX2	6657	HP:0001360	Holoprosencephaly
OMIM:206900	SOX2	6657	HP:0000238	Hydrocephalus
OMIM:206900	SOX2	6657	HP:0100543	Cognitive impairment
OMIM:206900	SOX2	6657	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:607523	COL7A1	1294	HP:0000006	Autosomal dominant inheritance
OMIM:107600	DLL4	54567	HP:0001928	Abnormality of coagulation
OMIM:107600	DLL4	54567	HP:0000007	Autosomal recessive inheritance
OMIM:107600	DLL4	54567	HP:0010301	Spinal dysraphism
OMIM:107600	DLL4	54567	HP:0000006	Autosomal dominant inheritance
OMIM:107600	DLL4	54567	HP:0200042	Skin ulcer
OMIM:107600	DLL4	54567	HP:0010628	Facial palsy
OMIM:107600	DLL4	54567	HP:0004348	Abnormality of bone mineral density
OMIM:107600	BMS1	9790	HP:0001928	Abnormality of coagulation
OMIM:107600	BMS1	9790	HP:0000007	Autosomal recessive inheritance
OMIM:107600	BMS1	9790	HP:0010301	Spinal dysraphism
OMIM:107600	BMS1	9790	HP:0000006	Autosomal dominant inheritance
OMIM:107600	BMS1	9790	HP:0200042	Skin ulcer
OMIM:107600	BMS1	9790	HP:0010628	Facial palsy
OMIM:107600	BMS1	9790	HP:0004348	Abnormality of bone mineral density
OMIM:300260	MECP2	4204	HP:0000739	Anxiety
OMIM:300260	MECP2	4204	HP:0002307	Drooling
OMIM:300260	MECP2	4204	HP:0011344	Severe global developmental delay
OMIM:300260	MECP2	4204	HP:0003676	Progressive
OMIM:300260	MECP2	4204	HP:0000160	Narrow mouth
OMIM:300260	MECP2	4204	HP:0001344	Absent speech
OMIM:300260	MECP2	4204	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:300260	MECP2	4204	HP:0002019	Constipation
OMIM:300260	MECP2	4204	HP:0000369	Low-set ears
OMIM:300260	MECP2	4204	HP:0010804	Tented upper lip vermilion
OMIM:300260	MECP2	4204	HP:0000252	Microcephaly
OMIM:300260	MECP2	4204	HP:0002072	Chorea
OMIM:300260	MECP2	4204	HP:0000028	Cryptorchidism
OMIM:300260	MECP2	4204	HP:0000272	Malar flattening
OMIM:300260	MECP2	4204	HP:0000400	Macrotia
OMIM:300260	MECP2	4204	HP:0001251	Ataxia
OMIM:300260	MECP2	4204	HP:0001250	Seizures
OMIM:300260	MECP2	4204	HP:0000164	Abnormality of the teeth
OMIM:300260	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300260	MECP2	4204	HP:0002063	Rigidity
OMIM:300260	MECP2	4204	HP:0002015	Dysphagia
OMIM:300260	MECP2	4204	HP:0040199	Flat midface
OMIM:300260	MECP2	4204	HP:0002205	Recurrent respiratory infections
OMIM:300260	MECP2	4204	HP:0000716	Depression
OMIM:300260	MECP2	4204	HP:0002020	Gastroesophageal reflux
OMIM:300260	MECP2	4204	HP:0000256	Macrocephaly
OMIM:300260	MECP2	4204	HP:0005280	Depressed nasal bridge
OMIM:300260	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300260	MECP2	4204	HP:0000248	Brachycephaly
OMIM:112240	P4HB	5034	HP:0000691	Microdontia
OMIM:112240	P4HB	5034	HP:0000938	Osteopenia
OMIM:112240	P4HB	5034	HP:0004440	Coronal craniosynostosis
OMIM:112240	P4HB	5034	HP:0011800	Hypoplasia of midface
OMIM:112240	P4HB	5034	HP:0004322	Short stature
OMIM:112240	P4HB	5034	HP:0000347	Micrognathia
OMIM:112240	P4HB	5034	HP:0001620	High pitched voice
OMIM:112240	P4HB	5034	HP:0002757	Recurrent fractures
OMIM:112240	P4HB	5034	HP:0000006	Autosomal dominant inheritance
OMIM:112240	P4HB	5034	HP:0002007	Frontal bossing
OMIM:112240	SEC24D	9871	HP:0000691	Microdontia
OMIM:112240	SEC24D	9871	HP:0000938	Osteopenia
OMIM:112240	SEC24D	9871	HP:0004440	Coronal craniosynostosis
OMIM:112240	SEC24D	9871	HP:0011800	Hypoplasia of midface
OMIM:112240	SEC24D	9871	HP:0004322	Short stature
OMIM:112240	SEC24D	9871	HP:0000347	Micrognathia
OMIM:112240	SEC24D	9871	HP:0001620	High pitched voice
OMIM:112240	SEC24D	9871	HP:0002757	Recurrent fractures
OMIM:112240	SEC24D	9871	HP:0000006	Autosomal dominant inheritance
OMIM:112240	SEC24D	9871	HP:0002007	Frontal bossing
OMIM:300852	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:300852	ZNF711	7552	HP:0000717	Autism
OMIM:300852	ZNF711	7552	HP:0001250	Seizures
OMIM:300852	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:300852	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:300852	IL1RAPL1	11141	HP:0000717	Autism
OMIM:300852	IL1RAPL1	11141	HP:0001250	Seizures
OMIM:300852	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:300852	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:300852	ACSL4	2182	HP:0000717	Autism
OMIM:300852	ACSL4	2182	HP:0001250	Seizures
OMIM:300852	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:300852	PAK3	5063	HP:0001249	Intellectual disability
OMIM:300852	PAK3	5063	HP:0000717	Autism
OMIM:300852	PAK3	5063	HP:0001250	Seizures
OMIM:300852	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:300852	SYP	6855	HP:0001249	Intellectual disability
OMIM:300852	SYP	6855	HP:0000717	Autism
OMIM:300852	SYP	6855	HP:0001250	Seizures
OMIM:300852	SYP	6855	HP:0001417	X-linked inheritance
OMIM:300852	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:300852	FTSJ1	24140	HP:0000717	Autism
OMIM:300852	FTSJ1	24140	HP:0001250	Seizures
OMIM:300852	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:300852	DLG3	1741	HP:0001249	Intellectual disability
OMIM:300852	DLG3	1741	HP:0000717	Autism
OMIM:300852	DLG3	1741	HP:0001250	Seizures
OMIM:300852	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:300852	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:300852	PTCHD1	139411	HP:0000717	Autism
OMIM:300852	PTCHD1	139411	HP:0001250	Seizures
OMIM:300852	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:300852	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300852	UPF3B	65109	HP:0000717	Autism
OMIM:300852	UPF3B	65109	HP:0001250	Seizures
OMIM:300852	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:300852	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:300852	ZNF81	347344	HP:0000717	Autism
OMIM:300852	ZNF81	347344	HP:0001250	Seizures
OMIM:300852	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:300852	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:300852	RAB39B	116442	HP:0000717	Autism
OMIM:300852	RAB39B	116442	HP:0001250	Seizures
OMIM:300852	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:300852	DMD	1756	HP:0001249	Intellectual disability
OMIM:300852	DMD	1756	HP:0000717	Autism
OMIM:300852	DMD	1756	HP:0001250	Seizures
OMIM:300852	DMD	1756	HP:0001417	X-linked inheritance
OMIM:300852	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:300852	MAGT1	84061	HP:0000717	Autism
OMIM:300852	MAGT1	84061	HP:0001250	Seizures
OMIM:300852	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:300852	MID2	11043	HP:0001249	Intellectual disability
OMIM:300852	MID2	11043	HP:0000717	Autism
OMIM:300852	MID2	11043	HP:0001250	Seizures
OMIM:300852	MID2	11043	HP:0001417	X-linked inheritance
OMIM:300852	GDI1	2664	HP:0001249	Intellectual disability
OMIM:300852	GDI1	2664	HP:0000717	Autism
OMIM:300852	GDI1	2664	HP:0001250	Seizures
OMIM:300852	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:300852	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:300852	ZNF41	7592	HP:0000717	Autism
OMIM:300852	ZNF41	7592	HP:0001250	Seizures
OMIM:300852	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:300852	MECP2	4204	HP:0001249	Intellectual disability
OMIM:300852	MECP2	4204	HP:0000717	Autism
OMIM:300852	MECP2	4204	HP:0001250	Seizures
OMIM:300852	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:300852	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:300852	HCFC1	3054	HP:0000717	Autism
OMIM:300852	HCFC1	3054	HP:0001250	Seizures
OMIM:300852	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:300852	USP9X	8239	HP:0001249	Intellectual disability
OMIM:300852	USP9X	8239	HP:0000717	Autism
OMIM:300852	USP9X	8239	HP:0001250	Seizures
OMIM:300852	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:300852	MED12	9968	HP:0001249	Intellectual disability
OMIM:300852	MED12	9968	HP:0000717	Autism
OMIM:300852	MED12	9968	HP:0001250	Seizures
OMIM:300852	MED12	9968	HP:0001417	X-linked inheritance
OMIM:300852	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:300852	ZNF674	641339	HP:0000717	Autism
OMIM:300852	ZNF674	641339	HP:0001250	Seizures
OMIM:300852	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:300852	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:300852	ARHGEF6	9459	HP:0000717	Autism
OMIM:300852	ARHGEF6	9459	HP:0001250	Seizures
OMIM:300852	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:300852	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:300852	RPS6KA3	6197	HP:0000717	Autism
OMIM:300852	RPS6KA3	6197	HP:0001250	Seizures
OMIM:300852	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:300852	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:300852	IQSEC2	23096	HP:0000717	Autism
OMIM:300852	IQSEC2	23096	HP:0001250	Seizures
OMIM:300852	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:300852	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300852	AGTR2	186	HP:0000717	Autism
OMIM:300852	AGTR2	186	HP:0001250	Seizures
OMIM:300852	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300852	ARX	170302	HP:0001249	Intellectual disability
OMIM:300852	ARX	170302	HP:0000717	Autism
OMIM:300852	ARX	170302	HP:0001250	Seizures
OMIM:300852	ARX	170302	HP:0001417	X-linked inheritance
OMIM:300852	ALG13	79868	HP:0001249	Intellectual disability
OMIM:300852	ALG13	79868	HP:0000717	Autism
OMIM:300852	ALG13	79868	HP:0001250	Seizures
OMIM:300852	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:300852	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:300852	TSPAN7	7102	HP:0000717	Autism
OMIM:300852	TSPAN7	7102	HP:0001250	Seizures
OMIM:300852	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:612921	CCDC8	83987	HP:0000268	Dolichocephaly
OMIM:612921	CCDC8	83987	HP:0004322	Short stature
OMIM:612921	CCDC8	83987	HP:0000007	Autosomal recessive inheritance
OMIM:612921	CCDC8	83987	HP:0000325	Triangular face
OMIM:612921	CCDC8	83987	HP:0000307	Pointed chin
OMIM:612921	CCDC8	83987	HP:0000470	Short neck
OMIM:612921	CCDC8	83987	HP:0000343	Long philtrum
OMIM:612921	CCDC8	83987	HP:0000272	Malar flattening
OMIM:612921	CCDC8	83987	HP:0000411	Protruding ear
OMIM:612921	CCDC8	83987	HP:0012471	Thick vermilion border
OMIM:612921	CCDC8	83987	HP:0002007	Frontal bossing
OMIM:612921	CCDC8	83987	HP:0003100	Slender long bone
OMIM:612921	CCDC8	83987	HP:0000463	Anteverted nares
OMIM:612921	CCDC8	83987	HP:0003691	Scapular winging
OMIM:612921	CCDC8	83987	HP:0003307	Hyperlordosis
OMIM:612921	OBSL1	23363	HP:0000268	Dolichocephaly
OMIM:612921	OBSL1	23363	HP:0004322	Short stature
OMIM:612921	OBSL1	23363	HP:0000007	Autosomal recessive inheritance
OMIM:612921	OBSL1	23363	HP:0000325	Triangular face
OMIM:612921	OBSL1	23363	HP:0000307	Pointed chin
OMIM:612921	OBSL1	23363	HP:0000470	Short neck
OMIM:612921	OBSL1	23363	HP:0000343	Long philtrum
OMIM:612921	OBSL1	23363	HP:0000272	Malar flattening
OMIM:612921	OBSL1	23363	HP:0000411	Protruding ear
OMIM:612921	OBSL1	23363	HP:0012471	Thick vermilion border
OMIM:612921	OBSL1	23363	HP:0002007	Frontal bossing
OMIM:612921	OBSL1	23363	HP:0003100	Slender long bone
OMIM:612921	OBSL1	23363	HP:0000463	Anteverted nares
OMIM:612921	OBSL1	23363	HP:0003691	Scapular winging
OMIM:612921	OBSL1	23363	HP:0003307	Hyperlordosis
OMIM:612921	CUL7	9820	HP:0000268	Dolichocephaly
OMIM:612921	CUL7	9820	HP:0004322	Short stature
OMIM:612921	CUL7	9820	HP:0000007	Autosomal recessive inheritance
OMIM:612921	CUL7	9820	HP:0000325	Triangular face
OMIM:612921	CUL7	9820	HP:0000307	Pointed chin
OMIM:612921	CUL7	9820	HP:0000470	Short neck
OMIM:612921	CUL7	9820	HP:0000343	Long philtrum
OMIM:612921	CUL7	9820	HP:0000272	Malar flattening
OMIM:612921	CUL7	9820	HP:0000411	Protruding ear
OMIM:612921	CUL7	9820	HP:0012471	Thick vermilion border
OMIM:612921	CUL7	9820	HP:0002007	Frontal bossing
OMIM:612921	CUL7	9820	HP:0003100	Slender long bone
OMIM:612921	CUL7	9820	HP:0000463	Anteverted nares
OMIM:612921	CUL7	9820	HP:0003691	Scapular winging
OMIM:612921	CUL7	9820	HP:0003307	Hyperlordosis
OMIM:138500	SLC36A2	153201	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:138500	SLC36A2	153201	HP:0003108	Hyperglycinuria
OMIM:138500	SLC36A2	153201	HP:0000006	Autosomal dominant inheritance
OMIM:138500	SLC6A20	54716	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:138500	SLC6A20	54716	HP:0003108	Hyperglycinuria
OMIM:138500	SLC6A20	54716	HP:0000006	Autosomal dominant inheritance
OMIM:138500	SLC6A19	340024	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:138500	SLC6A19	340024	HP:0003108	Hyperglycinuria
OMIM:138500	SLC6A19	340024	HP:0000006	Autosomal dominant inheritance
ORPHANET:524	CHEK2	11200	HP:0100242	Sarcoma
ORPHANET:524	CHEK2	11200	HP:0100273	Neoplasm of the colon
ORPHANET:524	CHEK2	11200	HP:0004375	Neoplasm of the nervous system
ORPHANET:524	CHEK2	11200	HP:0008069	Neoplasm of the skin
ORPHANET:524	CHEK2	11200	HP:0100526	Neoplasm of the lung
ORPHANET:524	CHEK2	11200	HP:0100013	Neoplasm of the breast
ORPHANET:524	CHEK2	11200	HP:0002861	Melanoma
ORPHANET:524	CHEK2	11200	HP:0010622	Neoplasm of the skeletal system
ORPHANET:524	CHEK2	11200	HP:0002894	Neoplasm of the pancreas
ORPHANET:524	CHEK2	11200	HP:0002665	Lymphoma
ORPHANET:524	CHEK2	11200	HP:0002488	Acute leukemia
ORPHANET:524	MDM2	4193	HP:0100242	Sarcoma
ORPHANET:524	MDM2	4193	HP:0100273	Neoplasm of the colon
ORPHANET:524	MDM2	4193	HP:0004375	Neoplasm of the nervous system
ORPHANET:524	MDM2	4193	HP:0008069	Neoplasm of the skin
ORPHANET:524	MDM2	4193	HP:0100526	Neoplasm of the lung
ORPHANET:524	MDM2	4193	HP:0100013	Neoplasm of the breast
ORPHANET:524	MDM2	4193	HP:0002861	Melanoma
ORPHANET:524	MDM2	4193	HP:0010622	Neoplasm of the skeletal system
ORPHANET:524	MDM2	4193	HP:0002894	Neoplasm of the pancreas
ORPHANET:524	MDM2	4193	HP:0002665	Lymphoma
ORPHANET:524	MDM2	4193	HP:0002488	Acute leukemia
ORPHANET:524	TP53	7157	HP:0100242	Sarcoma
ORPHANET:524	TP53	7157	HP:0100273	Neoplasm of the colon
ORPHANET:524	TP53	7157	HP:0004375	Neoplasm of the nervous system
ORPHANET:524	TP53	7157	HP:0008069	Neoplasm of the skin
ORPHANET:524	TP53	7157	HP:0100526	Neoplasm of the lung
ORPHANET:524	TP53	7157	HP:0100013	Neoplasm of the breast
ORPHANET:524	TP53	7157	HP:0002861	Melanoma
ORPHANET:524	TP53	7157	HP:0010622	Neoplasm of the skeletal system
ORPHANET:524	TP53	7157	HP:0002894	Neoplasm of the pancreas
ORPHANET:524	TP53	7157	HP:0002665	Lymphoma
ORPHANET:524	TP53	7157	HP:0002488	Acute leukemia
OMIM:109720	SPIB	6689	HP:0000006	Autosomal dominant inheritance
OMIM:109720	SPIB	6689	HP:0002613	Biliary cirrhosis
OMIM:109720	IL12A	3592	HP:0000006	Autosomal dominant inheritance
OMIM:109720	IL12A	3592	HP:0002613	Biliary cirrhosis
OMIM:109720	IL12RB1	3594	HP:0000006	Autosomal dominant inheritance
OMIM:109720	IL12RB1	3594	HP:0002613	Biliary cirrhosis
OMIM:109720	POU2AF1	5450	HP:0000006	Autosomal dominant inheritance
OMIM:109720	POU2AF1	5450	HP:0002613	Biliary cirrhosis
OMIM:109720	TNPO3	23534	HP:0000006	Autosomal dominant inheritance
OMIM:109720	TNPO3	23534	HP:0002613	Biliary cirrhosis
OMIM:109720	TNFSF15	9966	HP:0000006	Autosomal dominant inheritance
OMIM:109720	TNFSF15	9966	HP:0002613	Biliary cirrhosis
OMIM:109720	IRF5	3663	HP:0000006	Autosomal dominant inheritance
OMIM:109720	IRF5	3663	HP:0002613	Biliary cirrhosis
OMIM:614564	ATR	545	HP:0006297	Hypoplasia of dental enamel
OMIM:614564	ATR	545	HP:0003002	Breast carcinoma
OMIM:614564	ATR	545	HP:0000670	Carious teeth
OMIM:614564	ATR	545	HP:0000444	Convex nasal ridge
OMIM:614564	ATR	545	HP:0000006	Autosomal dominant inheritance
OMIM:614564	ATR	545	HP:0001596	Alopecia
OMIM:614564	ATR	545	HP:0001009	Telangiectasia
OMIM:216950	C4A	720	HP:0000123	Nephritis
OMIM:216950	C4A	720	HP:0001369	Arthritis
OMIM:216950	C4A	720	HP:0000007	Autosomal recessive inheritance
OMIM:216950	C4A	720	HP:0002837	Recurrent bronchitis
OMIM:216950	C4A	720	HP:0002960	Autoimmunity
OMIM:216950	C4A	720	HP:0004431	Complement deficiency
OMIM:216950	C4A	720	HP:0002829	Arthralgia
OMIM:216950	C4A	720	HP:0007417	Discoid lupus erythematosus
OMIM:216950	C4B	721	HP:0000123	Nephritis
OMIM:216950	C4B	721	HP:0001369	Arthritis
OMIM:216950	C4B	721	HP:0000007	Autosomal recessive inheritance
OMIM:216950	C4B	721	HP:0002837	Recurrent bronchitis
OMIM:216950	C4B	721	HP:0002960	Autoimmunity
OMIM:216950	C4B	721	HP:0004431	Complement deficiency
OMIM:216950	C4B	721	HP:0002829	Arthralgia
OMIM:216950	C4B	721	HP:0007417	Discoid lupus erythematosus
OMIM:216950	SERPING1	710	HP:0000123	Nephritis
OMIM:216950	SERPING1	710	HP:0001369	Arthritis
OMIM:216950	SERPING1	710	HP:0000007	Autosomal recessive inheritance
OMIM:216950	SERPING1	710	HP:0002837	Recurrent bronchitis
OMIM:216950	SERPING1	710	HP:0002960	Autoimmunity
OMIM:216950	SERPING1	710	HP:0004431	Complement deficiency
OMIM:216950	SERPING1	710	HP:0002829	Arthralgia
OMIM:216950	SERPING1	710	HP:0007417	Discoid lupus erythematosus
OMIM:216950	C1QA	712	HP:0000123	Nephritis
OMIM:216950	C1QA	712	HP:0001369	Arthritis
OMIM:216950	C1QA	712	HP:0000007	Autosomal recessive inheritance
OMIM:216950	C1QA	712	HP:0002837	Recurrent bronchitis
OMIM:216950	C1QA	712	HP:0002960	Autoimmunity
OMIM:216950	C1QA	712	HP:0004431	Complement deficiency
OMIM:216950	C1QA	712	HP:0002829	Arthralgia
OMIM:216950	C1QA	712	HP:0007417	Discoid lupus erythematosus
OMIM:216950	C1QB	713	HP:0000123	Nephritis
OMIM:216950	C1QB	713	HP:0001369	Arthritis
OMIM:216950	C1QB	713	HP:0000007	Autosomal recessive inheritance
OMIM:216950	C1QB	713	HP:0002837	Recurrent bronchitis
OMIM:216950	C1QB	713	HP:0002960	Autoimmunity
OMIM:216950	C1QB	713	HP:0004431	Complement deficiency
OMIM:216950	C1QB	713	HP:0002829	Arthralgia
OMIM:216950	C1QB	713	HP:0007417	Discoid lupus erythematosus
OMIM:216950	C1QC	714	HP:0000123	Nephritis
OMIM:216950	C1QC	714	HP:0001369	Arthritis
OMIM:216950	C1QC	714	HP:0000007	Autosomal recessive inheritance
OMIM:216950	C1QC	714	HP:0002837	Recurrent bronchitis
OMIM:216950	C1QC	714	HP:0002960	Autoimmunity
OMIM:216950	C1QC	714	HP:0004431	Complement deficiency
OMIM:216950	C1QC	714	HP:0002829	Arthralgia
OMIM:216950	C1QC	714	HP:0007417	Discoid lupus erythematosus
OMIM:216950	C1R	715	HP:0000123	Nephritis
OMIM:216950	C1R	715	HP:0001369	Arthritis
OMIM:216950	C1R	715	HP:0000007	Autosomal recessive inheritance
OMIM:216950	C1R	715	HP:0002837	Recurrent bronchitis
OMIM:216950	C1R	715	HP:0002960	Autoimmunity
OMIM:216950	C1R	715	HP:0004431	Complement deficiency
OMIM:216950	C1R	715	HP:0002829	Arthralgia
OMIM:216950	C1R	715	HP:0007417	Discoid lupus erythematosus
OMIM:216950	C1S	716	HP:0000123	Nephritis
OMIM:216950	C1S	716	HP:0001369	Arthritis
OMIM:216950	C1S	716	HP:0000007	Autosomal recessive inheritance
OMIM:216950	C1S	716	HP:0002837	Recurrent bronchitis
OMIM:216950	C1S	716	HP:0002960	Autoimmunity
OMIM:216950	C1S	716	HP:0004431	Complement deficiency
OMIM:216950	C1S	716	HP:0002829	Arthralgia
OMIM:216950	C1S	716	HP:0007417	Discoid lupus erythematosus
OMIM:216950	C2	717	HP:0000123	Nephritis
OMIM:216950	C2	717	HP:0001369	Arthritis
OMIM:216950	C2	717	HP:0000007	Autosomal recessive inheritance
OMIM:216950	C2	717	HP:0002837	Recurrent bronchitis
OMIM:216950	C2	717	HP:0002960	Autoimmunity
OMIM:216950	C2	717	HP:0004431	Complement deficiency
OMIM:216950	C2	717	HP:0002829	Arthralgia
OMIM:216950	C2	717	HP:0007417	Discoid lupus erythematosus
OMIM:610189	WDR19	57728	HP:0000505	Visual impairment
OMIM:610189	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:610189	WDR19	57728	HP:0007663	Reduced visual acuity
OMIM:610189	WDR19	57728	HP:0000707	Abnormality of the nervous system
OMIM:610189	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
OMIM:610189	CEP164	22897	HP:0000505	Visual impairment
OMIM:610189	CEP164	22897	HP:0000007	Autosomal recessive inheritance
OMIM:610189	CEP164	22897	HP:0007663	Reduced visual acuity
OMIM:610189	CEP164	22897	HP:0000707	Abnormality of the nervous system
OMIM:610189	CEP164	22897	HP:0003774	Stage 5 chronic kidney disease
OMIM:610189	TRAF3IP1	26146	HP:0000505	Visual impairment
OMIM:610189	TRAF3IP1	26146	HP:0000007	Autosomal recessive inheritance
OMIM:610189	TRAF3IP1	26146	HP:0007663	Reduced visual acuity
OMIM:610189	TRAF3IP1	26146	HP:0000707	Abnormality of the nervous system
OMIM:610189	TRAF3IP1	26146	HP:0003774	Stage 5 chronic kidney disease
OMIM:610189	NPHP1	4867	HP:0000505	Visual impairment
OMIM:610189	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:610189	NPHP1	4867	HP:0007663	Reduced visual acuity
OMIM:610189	NPHP1	4867	HP:0000707	Abnormality of the nervous system
OMIM:610189	NPHP1	4867	HP:0003774	Stage 5 chronic kidney disease
OMIM:610189	NPHP4	261734	HP:0000505	Visual impairment
OMIM:610189	NPHP4	261734	HP:0000007	Autosomal recessive inheritance
OMIM:610189	NPHP4	261734	HP:0007663	Reduced visual acuity
OMIM:610189	NPHP4	261734	HP:0000707	Abnormality of the nervous system
OMIM:610189	NPHP4	261734	HP:0003774	Stage 5 chronic kidney disease
OMIM:610189	SDCCAG8	10806	HP:0000505	Visual impairment
OMIM:610189	SDCCAG8	10806	HP:0000007	Autosomal recessive inheritance
OMIM:610189	SDCCAG8	10806	HP:0007663	Reduced visual acuity
OMIM:610189	SDCCAG8	10806	HP:0000707	Abnormality of the nervous system
OMIM:610189	SDCCAG8	10806	HP:0003774	Stage 5 chronic kidney disease
OMIM:610189	NPHP3	27031	HP:0000505	Visual impairment
OMIM:610189	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:610189	NPHP3	27031	HP:0007663	Reduced visual acuity
OMIM:610189	NPHP3	27031	HP:0000707	Abnormality of the nervous system
OMIM:610189	NPHP3	27031	HP:0003774	Stage 5 chronic kidney disease
OMIM:610189	CEP290	80184	HP:0000505	Visual impairment
OMIM:610189	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:610189	CEP290	80184	HP:0007663	Reduced visual acuity
OMIM:610189	CEP290	80184	HP:0000707	Abnormality of the nervous system
OMIM:610189	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
OMIM:610189	IQCB1	9657	HP:0000505	Visual impairment
OMIM:610189	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:610189	IQCB1	9657	HP:0007663	Reduced visual acuity
OMIM:610189	IQCB1	9657	HP:0000707	Abnormality of the nervous system
OMIM:610189	IQCB1	9657	HP:0003774	Stage 5 chronic kidney disease
OMIM:610189	INVS	27130	HP:0000505	Visual impairment
OMIM:610189	INVS	27130	HP:0000007	Autosomal recessive inheritance
OMIM:610189	INVS	27130	HP:0007663	Reduced visual acuity
OMIM:610189	INVS	27130	HP:0000707	Abnormality of the nervous system
OMIM:610189	INVS	27130	HP:0003774	Stage 5 chronic kidney disease
OMIM:610158	COL8A2	1296	HP:0000006	Autosomal dominant inheritance
OMIM:610158	COL8A2	1296	HP:0001131	Corneal dystrophy
OMIM:610158	COL8A2	1296	HP:0000969	Edema
OMIM:610158	SLC4A11	83959	HP:0000006	Autosomal dominant inheritance
OMIM:610158	SLC4A11	83959	HP:0001131	Corneal dystrophy
OMIM:610158	SLC4A11	83959	HP:0000969	Edema
OMIM:610158	ZEB1	6935	HP:0000006	Autosomal dominant inheritance
OMIM:610158	ZEB1	6935	HP:0001131	Corneal dystrophy
OMIM:610158	ZEB1	6935	HP:0000969	Edema
OMIM:610158	AGBL1	123624	HP:0000006	Autosomal dominant inheritance
OMIM:610158	AGBL1	123624	HP:0001131	Corneal dystrophy
OMIM:610158	AGBL1	123624	HP:0000969	Edema
OMIM:610158	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:610158	TCF4	6925	HP:0001131	Corneal dystrophy
OMIM:610158	TCF4	6925	HP:0000969	Edema
OMIM:614595	CORIN	10699	HP:0000006	Autosomal dominant inheritance
OMIM:614595	CORIN	10699	HP:0100602	Preeclampsia
OMIM:614595	STOX1	219736	HP:0000006	Autosomal dominant inheritance
OMIM:614595	STOX1	219736	HP:0100602	Preeclampsia
OMIM:612952	SAMHD1	25939	HP:0000007	Autosomal recessive inheritance
OMIM:612952	SAMHD1	25939	HP:0001263	Global developmental delay
OMIM:612952	SAMHD1	25939	HP:0002415	Leukodystrophy
OMIM:612952	SAMHD1	25939	HP:0002135	Basal ganglia calcification
OMIM:612952	SAMHD1	25939	HP:0008872	Feeding difficulties in infancy
OMIM:612952	SAMHD1	25939	HP:0009710	Chilblain lesions
OMIM:612952	RNASEH2B	79621	HP:0000007	Autosomal recessive inheritance
OMIM:612952	RNASEH2B	79621	HP:0001263	Global developmental delay
OMIM:612952	RNASEH2B	79621	HP:0002415	Leukodystrophy
OMIM:612952	RNASEH2B	79621	HP:0002135	Basal ganglia calcification
OMIM:612952	RNASEH2B	79621	HP:0008872	Feeding difficulties in infancy
OMIM:612952	RNASEH2B	79621	HP:0009710	Chilblain lesions
OMIM:612952	RNASEH2A	10535	HP:0000007	Autosomal recessive inheritance
OMIM:612952	RNASEH2A	10535	HP:0001263	Global developmental delay
OMIM:612952	RNASEH2A	10535	HP:0002415	Leukodystrophy
OMIM:612952	RNASEH2A	10535	HP:0002135	Basal ganglia calcification
OMIM:612952	RNASEH2A	10535	HP:0008872	Feeding difficulties in infancy
OMIM:612952	RNASEH2A	10535	HP:0009710	Chilblain lesions
OMIM:612952	ADAR	103	HP:0000007	Autosomal recessive inheritance
OMIM:612952	ADAR	103	HP:0001263	Global developmental delay
OMIM:612952	ADAR	103	HP:0002415	Leukodystrophy
OMIM:612952	ADAR	103	HP:0002135	Basal ganglia calcification
OMIM:612952	ADAR	103	HP:0008872	Feeding difficulties in infancy
OMIM:612952	ADAR	103	HP:0009710	Chilblain lesions
OMIM:612952	IFIH1	64135	HP:0000007	Autosomal recessive inheritance
OMIM:612952	IFIH1	64135	HP:0001263	Global developmental delay
OMIM:612952	IFIH1	64135	HP:0002415	Leukodystrophy
OMIM:612952	IFIH1	64135	HP:0002135	Basal ganglia calcification
OMIM:612952	IFIH1	64135	HP:0008872	Feeding difficulties in infancy
OMIM:612952	IFIH1	64135	HP:0009710	Chilblain lesions
OMIM:612952	RNASEH2C	84153	HP:0000007	Autosomal recessive inheritance
OMIM:612952	RNASEH2C	84153	HP:0001263	Global developmental delay
OMIM:612952	RNASEH2C	84153	HP:0002415	Leukodystrophy
OMIM:612952	RNASEH2C	84153	HP:0002135	Basal ganglia calcification
OMIM:612952	RNASEH2C	84153	HP:0008872	Feeding difficulties in infancy
OMIM:612952	RNASEH2C	84153	HP:0009710	Chilblain lesions
OMIM:612952	TREX1	11277	HP:0000007	Autosomal recessive inheritance
OMIM:612952	TREX1	11277	HP:0001263	Global developmental delay
OMIM:612952	TREX1	11277	HP:0002415	Leukodystrophy
OMIM:612952	TREX1	11277	HP:0002135	Basal ganglia calcification
OMIM:612952	TREX1	11277	HP:0008872	Feeding difficulties in infancy
OMIM:612952	TREX1	11277	HP:0009710	Chilblain lesions
OMIM:613970	MBD5	55777	HP:0002353	EEG abnormality
OMIM:613970	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:613970	MBD5	55777	HP:0000708	Behavioral abnormality
OMIM:613970	MBD5	55777	HP:0001249	Intellectual disability
OMIM:613970	CACNG2	10369	HP:0002353	EEG abnormality
OMIM:613970	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:613970	CACNG2	10369	HP:0000708	Behavioral abnormality
OMIM:613970	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:613970	DYRK1A	1859	HP:0002353	EEG abnormality
OMIM:613970	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:613970	DYRK1A	1859	HP:0000708	Behavioral abnormality
OMIM:613970	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:613970	KIF1A	547	HP:0002353	EEG abnormality
OMIM:613970	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:613970	KIF1A	547	HP:0000708	Behavioral abnormality
OMIM:613970	KIF1A	547	HP:0001249	Intellectual disability
OMIM:613970	DOCK8	81704	HP:0002353	EEG abnormality
OMIM:613970	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:613970	DOCK8	81704	HP:0000708	Behavioral abnormality
OMIM:613970	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:613970	TCF4	6925	HP:0002353	EEG abnormality
OMIM:613970	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:613970	TCF4	6925	HP:0000708	Behavioral abnormality
OMIM:613970	TCF4	6925	HP:0001249	Intellectual disability
OMIM:613970	KIRREL3	84623	HP:0002353	EEG abnormality
OMIM:613970	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:613970	KIRREL3	84623	HP:0000708	Behavioral abnormality
OMIM:613970	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:613970	DYNC1H1	1778	HP:0002353	EEG abnormality
OMIM:613970	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:613970	DYNC1H1	1778	HP:0000708	Behavioral abnormality
OMIM:613970	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:613970	EPB41L1	2036	HP:0002353	EEG abnormality
OMIM:613970	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:613970	EPB41L1	2036	HP:0000708	Behavioral abnormality
OMIM:613970	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:613970	CDH15	1013	HP:0002353	EEG abnormality
OMIM:613970	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:613970	CDH15	1013	HP:0000708	Behavioral abnormality
OMIM:613970	CDH15	1013	HP:0001249	Intellectual disability
OMIM:613970	GRIN1	2902	HP:0002353	EEG abnormality
OMIM:613970	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:613970	GRIN1	2902	HP:0000708	Behavioral abnormality
OMIM:613970	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:613970	GRIN2B	2904	HP:0002353	EEG abnormality
OMIM:613970	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:613970	GRIN2B	2904	HP:0000708	Behavioral abnormality
OMIM:613970	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:613970	DEAF1	10522	HP:0002353	EEG abnormality
OMIM:613970	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:613970	DEAF1	10522	HP:0000708	Behavioral abnormality
OMIM:613970	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:613970	SYNGAP1	8831	HP:0002353	EEG abnormality
OMIM:613970	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:613970	SYNGAP1	8831	HP:0000708	Behavioral abnormality
OMIM:613970	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:222745	DECR1	1666	HP:0000007	Autosomal recessive inheritance
OMIM:222745	DECR1	1666	HP:0001319	Neonatal hypotonia
OMIM:131950	PLEC	5339	HP:0000978	Bruising susceptibility
OMIM:131950	PLEC	5339	HP:0000962	Hyperkeratosis
OMIM:131950	PLEC	5339	HP:0000006	Autosomal dominant inheritance
OMIM:131950	PLEC	5339	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:131950	PLEC	5339	HP:0001597	Abnormality of the nail
OMIM:248200	ELOVL4	6785	HP:0000007	Autosomal recessive inheritance
OMIM:248200	ELOVL4	6785	HP:0000608	Macular degeneration
OMIM:248200	ELOVL4	6785	HP:0011504	Bull's eye maculopathy
OMIM:248200	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:248200	ABCA4	24	HP:0000608	Macular degeneration
OMIM:248200	ABCA4	24	HP:0011504	Bull's eye maculopathy
OMIM:248200	CNGB3	54714	HP:0000007	Autosomal recessive inheritance
OMIM:248200	CNGB3	54714	HP:0000608	Macular degeneration
OMIM:248200	CNGB3	54714	HP:0011504	Bull's eye maculopathy
OMIM:248200	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:248200	PROM1	8842	HP:0000608	Macular degeneration
OMIM:248200	PROM1	8842	HP:0011504	Bull's eye maculopathy
OMIM:615604	FTL	2512	HP:0000006	Autosomal dominant inheritance
OMIM:615604	FTL	2512	HP:0000007	Autosomal recessive inheritance
OMIM:175780	COL4A1	1282	HP:0001249	Intellectual disability
OMIM:175780	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:175780	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:175780	COL4A1	1282	HP:0001250	Seizures
OMIM:175780	COL4A1	1282	HP:0001257	Spasticity
OMIM:175780	COL4A1	1282	HP:0010636	Schizencephaly
OMIM:175780	COL4A1	1282	HP:0000006	Autosomal dominant inheritance
OMIM:175780	COL4A1	1282	HP:0000577	Exotropia
OMIM:175780	COL4A1	1282	HP:0001272	Cerebellar atrophy
OMIM:175780	COL4A1	1282	HP:0001878	Hemolytic anemia
OMIM:175780	COL4A1	1282	HP:0003487	Babinski sign
OMIM:175780	COL4A1	1282	HP:0002451	Limb dystonia
OMIM:175780	COL4A1	1282	HP:0003828	Variable expressivity
OMIM:175780	COL4A1	1282	HP:0001123	Visual field defect
OMIM:175780	COL4A1	1282	HP:0002132	Porencephaly
OMIM:175780	COL4A1	1282	HP:0002352	Leukoencephalopathy
OMIM:175780	COL4A2	1284	HP:0001249	Intellectual disability
OMIM:175780	COL4A2	1284	HP:0000238	Hydrocephalus
OMIM:175780	COL4A2	1284	HP:0003236	Elevated serum creatine phosphokinase
OMIM:175780	COL4A2	1284	HP:0001250	Seizures
OMIM:175780	COL4A2	1284	HP:0001257	Spasticity
OMIM:175780	COL4A2	1284	HP:0010636	Schizencephaly
OMIM:175780	COL4A2	1284	HP:0000006	Autosomal dominant inheritance
OMIM:175780	COL4A2	1284	HP:0000577	Exotropia
OMIM:175780	COL4A2	1284	HP:0001272	Cerebellar atrophy
OMIM:175780	COL4A2	1284	HP:0001878	Hemolytic anemia
OMIM:175780	COL4A2	1284	HP:0003487	Babinski sign
OMIM:175780	COL4A2	1284	HP:0002451	Limb dystonia
OMIM:175780	COL4A2	1284	HP:0003828	Variable expressivity
OMIM:175780	COL4A2	1284	HP:0001123	Visual field defect
OMIM:175780	COL4A2	1284	HP:0002132	Porencephaly
OMIM:175780	COL4A2	1284	HP:0002352	Leukoencephalopathy
OMIM:613493	CD19	930	HP:0004313	Decreased antibody level in blood
OMIM:613493	CD19	930	HP:0011108	Recurrent sinusitis
OMIM:613493	CD19	930	HP:0000007	Autosomal recessive inheritance
OMIM:613493	CD19	930	HP:0002721	Immunodeficiency
OMIM:613493	CD19	930	HP:0002718	Recurrent bacterial infections
OMIM:613493	CD19	930	HP:0000403	Recurrent otitis media
OMIM:613493	CD19	930	HP:0000509	Conjunctivitis
OMIM:613493	TNFRSF13C	115650	HP:0004313	Decreased antibody level in blood
OMIM:613493	TNFRSF13C	115650	HP:0011108	Recurrent sinusitis
OMIM:613493	TNFRSF13C	115650	HP:0000007	Autosomal recessive inheritance
OMIM:613493	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:613493	TNFRSF13C	115650	HP:0002718	Recurrent bacterial infections
OMIM:613493	TNFRSF13C	115650	HP:0000403	Recurrent otitis media
OMIM:613493	TNFRSF13C	115650	HP:0000509	Conjunctivitis
OMIM:613493	MS4A1	931	HP:0004313	Decreased antibody level in blood
OMIM:613493	MS4A1	931	HP:0011108	Recurrent sinusitis
OMIM:613493	MS4A1	931	HP:0000007	Autosomal recessive inheritance
OMIM:613493	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:613493	MS4A1	931	HP:0002718	Recurrent bacterial infections
OMIM:613493	MS4A1	931	HP:0000403	Recurrent otitis media
OMIM:613493	MS4A1	931	HP:0000509	Conjunctivitis
OMIM:613493	CR2	1380	HP:0004313	Decreased antibody level in blood
OMIM:613493	CR2	1380	HP:0011108	Recurrent sinusitis
OMIM:613493	CR2	1380	HP:0000007	Autosomal recessive inheritance
OMIM:613493	CR2	1380	HP:0002721	Immunodeficiency
OMIM:613493	CR2	1380	HP:0002718	Recurrent bacterial infections
OMIM:613493	CR2	1380	HP:0000403	Recurrent otitis media
OMIM:613493	CR2	1380	HP:0000509	Conjunctivitis
OMIM:613493	TNFSF12	8742	HP:0004313	Decreased antibody level in blood
OMIM:613493	TNFSF12	8742	HP:0011108	Recurrent sinusitis
OMIM:613493	TNFSF12	8742	HP:0000007	Autosomal recessive inheritance
OMIM:613493	TNFSF12	8742	HP:0002721	Immunodeficiency
OMIM:613493	TNFSF12	8742	HP:0002718	Recurrent bacterial infections
OMIM:613493	TNFSF12	8742	HP:0000403	Recurrent otitis media
OMIM:613493	TNFSF12	8742	HP:0000509	Conjunctivitis
OMIM:613493	NFKB1	4790	HP:0004313	Decreased antibody level in blood
OMIM:613493	NFKB1	4790	HP:0011108	Recurrent sinusitis
OMIM:613493	NFKB1	4790	HP:0000007	Autosomal recessive inheritance
OMIM:613493	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:613493	NFKB1	4790	HP:0002718	Recurrent bacterial infections
OMIM:613493	NFKB1	4790	HP:0000403	Recurrent otitis media
OMIM:613493	NFKB1	4790	HP:0000509	Conjunctivitis
OMIM:613493	TNFRSF13B	23495	HP:0004313	Decreased antibody level in blood
OMIM:613493	TNFRSF13B	23495	HP:0011108	Recurrent sinusitis
OMIM:613493	TNFRSF13B	23495	HP:0000007	Autosomal recessive inheritance
OMIM:613493	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:613493	TNFRSF13B	23495	HP:0002718	Recurrent bacterial infections
OMIM:613493	TNFRSF13B	23495	HP:0000403	Recurrent otitis media
OMIM:613493	TNFRSF13B	23495	HP:0000509	Conjunctivitis
OMIM:613493	NFKB2	4791	HP:0004313	Decreased antibody level in blood
OMIM:613493	NFKB2	4791	HP:0011108	Recurrent sinusitis
OMIM:613493	NFKB2	4791	HP:0000007	Autosomal recessive inheritance
OMIM:613493	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:613493	NFKB2	4791	HP:0002718	Recurrent bacterial infections
OMIM:613493	NFKB2	4791	HP:0000403	Recurrent otitis media
OMIM:613493	NFKB2	4791	HP:0000509	Conjunctivitis
OMIM:613493	ICOS	29851	HP:0004313	Decreased antibody level in blood
OMIM:613493	ICOS	29851	HP:0011108	Recurrent sinusitis
OMIM:613493	ICOS	29851	HP:0000007	Autosomal recessive inheritance
OMIM:613493	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:613493	ICOS	29851	HP:0002718	Recurrent bacterial infections
OMIM:613493	ICOS	29851	HP:0000403	Recurrent otitis media
OMIM:613493	ICOS	29851	HP:0000509	Conjunctivitis
OMIM:613493	LRBA	987	HP:0004313	Decreased antibody level in blood
OMIM:613493	LRBA	987	HP:0011108	Recurrent sinusitis
OMIM:613493	LRBA	987	HP:0000007	Autosomal recessive inheritance
OMIM:613493	LRBA	987	HP:0002721	Immunodeficiency
OMIM:613493	LRBA	987	HP:0002718	Recurrent bacterial infections
OMIM:613493	LRBA	987	HP:0000403	Recurrent otitis media
OMIM:613493	LRBA	987	HP:0000509	Conjunctivitis
OMIM:613493	PRKCD	5580	HP:0004313	Decreased antibody level in blood
OMIM:613493	PRKCD	5580	HP:0011108	Recurrent sinusitis
OMIM:613493	PRKCD	5580	HP:0000007	Autosomal recessive inheritance
OMIM:613493	PRKCD	5580	HP:0002721	Immunodeficiency
OMIM:613493	PRKCD	5580	HP:0002718	Recurrent bacterial infections
OMIM:613493	PRKCD	5580	HP:0000403	Recurrent otitis media
OMIM:613493	PRKCD	5580	HP:0000509	Conjunctivitis
OMIM:613493	CD81	975	HP:0004313	Decreased antibody level in blood
OMIM:613493	CD81	975	HP:0011108	Recurrent sinusitis
OMIM:613493	CD81	975	HP:0000007	Autosomal recessive inheritance
OMIM:613493	CD81	975	HP:0002721	Immunodeficiency
OMIM:613493	CD81	975	HP:0002718	Recurrent bacterial infections
OMIM:613493	CD81	975	HP:0000403	Recurrent otitis media
OMIM:613493	CD81	975	HP:0000509	Conjunctivitis
OMIM:614679	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:614679	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:614679	DNAAF2	55172	HP:0011109	Chronic sinusitis
OMIM:614679	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:614679	DNAAF2	55172	HP:0003577	Congenital onset
OMIM:614679	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
OMIM:614679	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:614679	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:614679	CCNO	10309	HP:0011109	Chronic sinusitis
OMIM:614679	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:614679	CCNO	10309	HP:0003577	Congenital onset
OMIM:614679	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:614679	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:614679	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:614679	DNAAF5	54919	HP:0011109	Chronic sinusitis
OMIM:614679	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:614679	DNAAF5	54919	HP:0003577	Congenital onset
OMIM:614679	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
OMIM:614679	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:614679	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:614679	DNAAF3	352909	HP:0011109	Chronic sinusitis
OMIM:614679	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:614679	DNAAF3	352909	HP:0003577	Congenital onset
OMIM:614679	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:614679	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:614679	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:614679	DNAI1	27019	HP:0011109	Chronic sinusitis
OMIM:614679	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:614679	DNAI1	27019	HP:0003577	Congenital onset
OMIM:614679	DNAI1	27019	HP:0002205	Recurrent respiratory infections
OMIM:614679	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:614679	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:614679	DRC1	92749	HP:0011109	Chronic sinusitis
OMIM:614679	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:614679	DRC1	92749	HP:0003577	Congenital onset
OMIM:614679	DRC1	92749	HP:0002205	Recurrent respiratory infections
OMIM:614679	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:614679	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:614679	SPAG1	6674	HP:0011109	Chronic sinusitis
OMIM:614679	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:614679	SPAG1	6674	HP:0003577	Congenital onset
OMIM:614679	SPAG1	6674	HP:0002205	Recurrent respiratory infections
OMIM:614679	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:614679	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:614679	RSPH3	83861	HP:0011109	Chronic sinusitis
OMIM:614679	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:614679	RSPH3	83861	HP:0003577	Congenital onset
OMIM:614679	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:614679	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:614679	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:614679	RPGR	6103	HP:0011109	Chronic sinusitis
OMIM:614679	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:614679	RPGR	6103	HP:0003577	Congenital onset
OMIM:614679	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:614679	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:614679	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:614679	LRRC6	23639	HP:0011109	Chronic sinusitis
OMIM:614679	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:614679	LRRC6	23639	HP:0003577	Congenital onset
OMIM:614679	LRRC6	23639	HP:0002205	Recurrent respiratory infections
OMIM:614679	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:614679	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:614679	DNAL1	83544	HP:0011109	Chronic sinusitis
OMIM:614679	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:614679	DNAL1	83544	HP:0003577	Congenital onset
OMIM:614679	DNAL1	83544	HP:0002205	Recurrent respiratory infections
OMIM:614679	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:614679	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:614679	ARMC4	55130	HP:0011109	Chronic sinusitis
OMIM:614679	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:614679	ARMC4	55130	HP:0003577	Congenital onset
OMIM:614679	ARMC4	55130	HP:0002205	Recurrent respiratory infections
OMIM:614679	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:614679	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:614679	CCDC103	388389	HP:0011109	Chronic sinusitis
OMIM:614679	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:614679	CCDC103	388389	HP:0003577	Congenital onset
OMIM:614679	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:614679	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:614679	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:614679	OFD1	8481	HP:0011109	Chronic sinusitis
OMIM:614679	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:614679	OFD1	8481	HP:0003577	Congenital onset
OMIM:614679	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:614679	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:614679	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:614679	DNAAF1	123872	HP:0011109	Chronic sinusitis
OMIM:614679	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:614679	DNAAF1	123872	HP:0003577	Congenital onset
OMIM:614679	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
OMIM:614679	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:614679	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:614679	RSPH4A	345895	HP:0011109	Chronic sinusitis
OMIM:614679	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:614679	RSPH4A	345895	HP:0003577	Congenital onset
OMIM:614679	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
OMIM:614679	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:614679	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:614679	RSPH1	89765	HP:0011109	Chronic sinusitis
OMIM:614679	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:614679	RSPH1	89765	HP:0003577	Congenital onset
OMIM:614679	RSPH1	89765	HP:0002205	Recurrent respiratory infections
OMIM:614679	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:614679	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:614679	ZMYND10	51364	HP:0011109	Chronic sinusitis
OMIM:614679	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:614679	ZMYND10	51364	HP:0003577	Congenital onset
OMIM:614679	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
OMIM:614679	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:614679	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:614679	DNAH5	1767	HP:0011109	Chronic sinusitis
OMIM:614679	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:614679	DNAH5	1767	HP:0003577	Congenital onset
OMIM:614679	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:614679	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:614679	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:614679	CCDC65	85478	HP:0011109	Chronic sinusitis
OMIM:614679	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:614679	CCDC65	85478	HP:0003577	Congenital onset
OMIM:614679	CCDC65	85478	HP:0002205	Recurrent respiratory infections
OMIM:614679	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:614679	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:614679	C21ORF59	56683	HP:0011109	Chronic sinusitis
OMIM:614679	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:614679	C21ORF59	56683	HP:0003577	Congenital onset
OMIM:614679	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
OMIM:614679	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:614679	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:614679	DYX1C1	161582	HP:0011109	Chronic sinusitis
OMIM:614679	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:614679	DYX1C1	161582	HP:0003577	Congenital onset
OMIM:614679	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
OMIM:614679	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:614679	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:614679	CCDC151	115948	HP:0011109	Chronic sinusitis
OMIM:614679	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:614679	CCDC151	115948	HP:0003577	Congenital onset
OMIM:614679	CCDC151	115948	HP:0002205	Recurrent respiratory infections
OMIM:614679	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:614679	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:614679	RSPH9	221421	HP:0011109	Chronic sinusitis
OMIM:614679	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:614679	RSPH9	221421	HP:0003577	Congenital onset
OMIM:614679	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:614679	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:614679	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:614679	CCDC39	339829	HP:0011109	Chronic sinusitis
OMIM:614679	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:614679	CCDC39	339829	HP:0003577	Congenital onset
OMIM:614679	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:614679	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:614679	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:614679	HYDIN	54768	HP:0011109	Chronic sinusitis
OMIM:614679	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:614679	HYDIN	54768	HP:0003577	Congenital onset
OMIM:614679	HYDIN	54768	HP:0002205	Recurrent respiratory infections
OMIM:614679	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:614679	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:614679	CCDC114	93233	HP:0011109	Chronic sinusitis
OMIM:614679	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:614679	CCDC114	93233	HP:0003577	Congenital onset
OMIM:614679	CCDC114	93233	HP:0002205	Recurrent respiratory infections
OMIM:614679	NME8	51314	HP:0002110	Bronchiectasis
OMIM:614679	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:614679	NME8	51314	HP:0011109	Chronic sinusitis
OMIM:614679	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:614679	NME8	51314	HP:0003577	Congenital onset
OMIM:614679	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:614679	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:614679	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:614679	CCDC40	55036	HP:0011109	Chronic sinusitis
OMIM:614679	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:614679	CCDC40	55036	HP:0003577	Congenital onset
OMIM:614679	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:614679	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:614679	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:614679	DNAH11	8701	HP:0011109	Chronic sinusitis
OMIM:614679	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:614679	DNAH11	8701	HP:0003577	Congenital onset
OMIM:614679	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:614679	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:614679	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:614679	DNAI2	64446	HP:0011109	Chronic sinusitis
OMIM:614679	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:614679	DNAI2	64446	HP:0003577	Congenital onset
OMIM:614679	DNAI2	64446	HP:0002205	Recurrent respiratory infections
OMIM:614679	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:614679	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:614679	GAS8	2622	HP:0011109	Chronic sinusitis
OMIM:614679	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:614679	GAS8	2622	HP:0003577	Congenital onset
OMIM:614679	GAS8	2622	HP:0002205	Recurrent respiratory infections
OMIM:615158	UQCRQ	27089	HP:0001943	Hypoglycemia
OMIM:615158	UQCRQ	27089	HP:0001942	Metabolic acidosis
OMIM:615158	UQCRQ	27089	HP:0000007	Autosomal recessive inheritance
OMIM:615158	CYC1	1537	HP:0001943	Hypoglycemia
OMIM:615158	CYC1	1537	HP:0001942	Metabolic acidosis
OMIM:615158	CYC1	1537	HP:0000007	Autosomal recessive inheritance
OMIM:615158	LYRM7	90624	HP:0001943	Hypoglycemia
OMIM:615158	LYRM7	90624	HP:0001942	Metabolic acidosis
OMIM:615158	LYRM7	90624	HP:0000007	Autosomal recessive inheritance
OMIM:615158	UQCRB	7381	HP:0001943	Hypoglycemia
OMIM:615158	UQCRB	7381	HP:0001942	Metabolic acidosis
OMIM:615158	UQCRB	7381	HP:0000007	Autosomal recessive inheritance
OMIM:615158	TTC19	54902	HP:0001943	Hypoglycemia
OMIM:615158	TTC19	54902	HP:0001942	Metabolic acidosis
OMIM:615158	TTC19	54902	HP:0000007	Autosomal recessive inheritance
OMIM:615158	CYTB	4519	HP:0001943	Hypoglycemia
OMIM:615158	CYTB	4519	HP:0001942	Metabolic acidosis
OMIM:615158	CYTB	4519	HP:0000007	Autosomal recessive inheritance
OMIM:615158	UQCC3	790955	HP:0001943	Hypoglycemia
OMIM:615158	UQCC3	790955	HP:0001942	Metabolic acidosis
OMIM:615158	UQCC3	790955	HP:0000007	Autosomal recessive inheritance
OMIM:615158	BCS1L	617	HP:0001943	Hypoglycemia
OMIM:615158	BCS1L	617	HP:0001942	Metabolic acidosis
OMIM:615158	BCS1L	617	HP:0000007	Autosomal recessive inheritance
OMIM:615158	UQCRC2	7385	HP:0001943	Hypoglycemia
OMIM:615158	UQCRC2	7385	HP:0001942	Metabolic acidosis
OMIM:615158	UQCRC2	7385	HP:0000007	Autosomal recessive inheritance
OMIM:615158	UQCC2	84300	HP:0001943	Hypoglycemia
OMIM:615158	UQCC2	84300	HP:0001942	Metabolic acidosis
OMIM:615158	UQCC2	84300	HP:0000007	Autosomal recessive inheritance
OMIM:207410	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:207410	FGFR2	2263	HP:0002007	Frontal bossing
OMIM:207410	FGFR2	2263	HP:0000520	Proptosis
OMIM:207410	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:207410	FGFR2	2263	HP:0000175	Cleft palate
OMIM:207410	FGFR2	2263	HP:0002823	Abnormality of the femur
OMIM:207410	FGFR2	2263	HP:0003196	Short nose
OMIM:207410	FGFR2	2263	HP:0009891	Underdeveloped supraorbital ridges
OMIM:207410	FGFR2	2263	HP:0001883	Talipes
OMIM:207410	FGFR2	2263	HP:0011800	Hypoplasia of midface
OMIM:207410	FGFR2	2263	HP:0001249	Intellectual disability
OMIM:207410	FGFR2	2263	HP:0000063	Fused labia minora
OMIM:207410	FGFR2	2263	HP:0000248	Brachycephaly
OMIM:207410	FGFR2	2263	HP:0000238	Hydrocephalus
OMIM:207410	FGFR2	2263	HP:0000486	Strabismus
OMIM:207410	FGFR2	2263	HP:0000272	Malar flattening
OMIM:207410	FGFR2	2263	HP:0004443	Lambdoidal craniosynostosis
OMIM:207410	FGFR2	2263	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:207410	FGFR2	2263	HP:0012385	Camptodactyly
OMIM:207410	FGFR2	2263	HP:0000494	Downslanted palpebral fissures
OMIM:207410	FGFR2	2263	HP:0000343	Long philtrum
OMIM:207410	FGFR2	2263	HP:0005280	Depressed nasal bridge
OMIM:207410	FGFR2	2263	HP:0000774	Narrow chest
OMIM:207410	FGFR2	2263	HP:0000160	Narrow mouth
OMIM:207410	FGFR2	2263	HP:0002757	Recurrent fractures
OMIM:207410	FGFR2	2263	HP:0000007	Autosomal recessive inheritance
OMIM:207410	FGFR2	2263	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:207410	FGFR2	2263	HP:0001363	Craniosynostosis
OMIM:207410	FGFR2	2263	HP:0002980	Femoral bowing
OMIM:207410	FGFR2	2263	HP:0001166	Arachnodactyly
OMIM:207410	FGFR2	2263	HP:0001838	Rocker bottom foot
OMIM:207410	FGFR2	2263	HP:0000368	Low-set, posteriorly rotated ears
OMIM:207410	FGFR2	2263	HP:0000453	Choanal atresia
OMIM:207410	FGFR2	2263	HP:0003041	Humeroradial synostosis
OMIM:207410	FGFR2	2263	HP:0100490	Camptodactyly of finger
OMIM:207410	FGFR2	2263	HP:0000402	Stenosis of the external auditory canal
OMIM:207410	FGFR2	2263	HP:0000463	Anteverted nares
OMIM:207410	FGFR2	2263	HP:0001631	Atria septal defect
OMIM:207410	FGFR2	2263	HP:0012210	Abnormal renal morphology
OMIM:207410	FGFR2	2263	HP:0000148	Vaginal atresia
OMIM:207410	FGFR2	2263	HP:0000772	Abnormality of the ribs
OMIM:207410	FGFR2	2263	HP:0000079	Abnormality of the urinary system
OMIM:207410	FGFR2	2263	HP:0000377	Abnormality of the pinna
OMIM:207410	FGFR2	2263	HP:0000452	Choanal stenosis
OMIM:207410	FGFR2	2263	HP:0001376	Limitation of joint mobility
OMIM:300905	PDK3	5165	HP:0001761	Pes cavus
OMIM:300905	PDK3	5165	HP:0003376	Steppage gait
OMIM:300905	PDK3	5165	HP:0003677	Slow progression
OMIM:300905	PDK3	5165	HP:0000407	Sensorineural hearing impairment
OMIM:300905	PDK3	5165	HP:0001423	X-linked dominant inheritance
OMIM:616050	NLRC4	58484	HP:0004322	Short stature
OMIM:616050	NLRC4	58484	HP:0001744	Splenomegaly
OMIM:616050	NLRC4	58484	HP:0004387	Enterocolitis
OMIM:616050	NLRC4	58484	HP:0001508	Failure to thrive
OMIM:616050	NLRC4	58484	HP:0001945	Fever
OMIM:616050	NLRC4	58484	HP:0002829	Arthralgia
OMIM:616050	NLRC4	58484	HP:0001876	Pancytopenia
OMIM:616050	NLRC4	58484	HP:0003326	Myalgia
OMIM:612015	RFT1	91869	HP:0001251	Ataxia
OMIM:612015	RFT1	91869	HP:0001336	Myoclonus
OMIM:612015	RFT1	91869	HP:0004322	Short stature
OMIM:612015	RFT1	91869	HP:0002240	Hepatomegaly
OMIM:612015	RFT1	91869	HP:0007663	Reduced visual acuity
OMIM:612015	RFT1	91869	HP:0000347	Micrognathia
OMIM:612015	RFT1	91869	HP:0001250	Seizures
OMIM:612015	RFT1	91869	HP:0001508	Failure to thrive
OMIM:612015	RFT1	91869	HP:0003256	Abnormality of the coagulation cascade
OMIM:612015	RFT1	91869	HP:0002093	Respiratory insufficiency
OMIM:612015	RFT1	91869	HP:0001347	Hyperreflexia
OMIM:612015	RFT1	91869	HP:0000252	Microcephaly
OMIM:612015	RFT1	91869	HP:0000470	Short neck
OMIM:612015	RFT1	91869	HP:0001249	Intellectual disability
OMIM:612015	RFT1	91869	HP:0000007	Autosomal recessive inheritance
OMIM:612015	RFT1	91869	HP:0001181	Adducted thumb
OMIM:612015	RFT1	91869	HP:0001263	Global developmental delay
OMIM:612015	RFT1	91869	HP:0001257	Spasticity
OMIM:612015	RFT1	91869	HP:0011968	Feeding difficulties
OMIM:612015	RFT1	91869	HP:0001252	Muscular hypotonia
OMIM:612015	RFT1	91869	HP:0000407	Sensorineural hearing impairment
OMIM:613330	NKX3-2	579	HP:0000007	Autosomal recessive inheritance
OMIM:613330	NKX3-2	579	HP:0002857	Genu valgum
OMIM:613330	NKX3-2	579	HP:0009714	Abnormality of the epididymis
OMIM:613330	NKX3-2	579	HP:0000256	Macrocephaly
OMIM:613330	NKX3-2	579	HP:0002812	Coxa vara
OMIM:613330	NKX3-2	579	HP:0003521	Disproportionate short-trunk short stature
OMIM:613330	NKX3-2	579	HP:0004288	Pseudoepiphyses of hand bones
OMIM:613330	NKX3-2	579	HP:0000316	Hypertelorism
OMIM:613330	NKX3-2	579	HP:0003025	Metaphyseal irregularity
OMIM:613330	NKX3-2	579	HP:0000946	Hypoplastic ilia
OMIM:613330	NKX3-2	579	HP:0000470	Short neck
OMIM:613330	NKX3-2	579	HP:0100569	Abnormal vertebral ossification
OMIM:613330	NKX3-2	579	HP:0002970	Genu varum
OMIM:613330	NKX3-2	579	HP:0000773	Short ribs
OMIM:613330	NKX3-2	579	HP:0001371	Flexion contracture
OMIM:613330	NKX3-2	579	HP:0100255	Metaphyseal dysplasia
OMIM:601606	CYLD	1540	HP:0003581	Adult onset
OMIM:601606	CYLD	1540	HP:0000006	Autosomal dominant inheritance
OMIM:606812	FH	2271	HP:0001274	Agenesis of corpus callosum
OMIM:606812	FH	2271	HP:0001396	Cholestasis
OMIM:606812	FH	2271	HP:0002007	Frontal bossing
OMIM:606812	FH	2271	HP:0000980	Pallor
OMIM:606812	FH	2271	HP:0001508	Failure to thrive
OMIM:606812	FH	2271	HP:0003355	Aminoaciduria
OMIM:606812	FH	2271	HP:0000252	Microcephaly
OMIM:606812	FH	2271	HP:0001263	Global developmental delay
OMIM:606812	FH	2271	HP:0001252	Muscular hypotonia
OMIM:606812	FH	2271	HP:0001942	Metabolic acidosis
OMIM:606812	FH	2271	HP:0002133	Status epilepticus
OMIM:606812	FH	2271	HP:0001002	Decreased subcutaneous fat
OMIM:606812	FH	2271	HP:0000316	Hypertelorism
OMIM:606812	FH	2271	HP:0002059	Cerebral atrophy
OMIM:606812	FH	2271	HP:0000007	Autosomal recessive inheritance
OMIM:606812	FH	2271	HP:0002187	Intellectual disability, profound
OMIM:606812	FH	2271	HP:0002365	Hypoplasia of the brainstem
OMIM:606812	FH	2271	HP:0000505	Visual impairment
OMIM:606812	FH	2271	HP:0000463	Anteverted nares
OMIM:606812	FH	2271	HP:0001901	Polycythemia
OMIM:606812	FH	2271	HP:0002167	Neurological speech impairment
OMIM:606812	FH	2271	HP:0000648	Optic atrophy
OMIM:606812	FH	2271	HP:0003128	Lactic acidosis
OMIM:606812	FH	2271	HP:0001399	Hepatic failure
OMIM:606812	FH	2271	HP:0004482	Relative macrocephaly
OMIM:606812	FH	2271	HP:0000218	High palate
OMIM:606812	FH	2271	HP:0005280	Depressed nasal bridge
OMIM:606812	FH	2271	HP:0002126	Polymicrogyria
OMIM:208250	PRG4	10216	HP:0002812	Coxa vara
OMIM:208250	PRG4	10216	HP:0000007	Autosomal recessive inheritance
OMIM:208250	PRG4	10216	HP:0001369	Arthritis
OMIM:132600	MUTYH	4595	HP:0000006	Autosomal dominant inheritance
OMIM:132600	MUTYH	4595	HP:0001428	Somatic mutation
OMIM:132600	CTNNB1	1499	HP:0000006	Autosomal dominant inheritance
OMIM:132600	CTNNB1	1499	HP:0001428	Somatic mutation
OMIM:608217	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:608217	KCNQ2	3785	HP:0003593	Infantile onset
OMIM:608217	KCNQ2	3785	HP:0002069	Generalized tonic-clonic seizures
OMIM:608217	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:608217	KCNQ3	3786	HP:0003593	Infantile onset
OMIM:608217	KCNQ3	3786	HP:0002069	Generalized tonic-clonic seizures
OMIM:275350	TCN2	6948	HP:0001876	Pancytopenia
OMIM:275350	TCN2	6948	HP:0001508	Failure to thrive
OMIM:275350	TCN2	6948	HP:0001873	Thrombocytopenia
OMIM:275350	TCN2	6948	HP:0001324	Muscle weakness
OMIM:275350	TCN2	6948	HP:0001903	Anemia
OMIM:275350	TCN2	6948	HP:0004313	Decreased antibody level in blood
OMIM:275350	TCN2	6948	HP:0001875	Neutropenia
OMIM:275350	TCN2	6948	HP:0001896	Reticulocytopenia
OMIM:275350	TCN2	6948	HP:0001254	Lethargy
OMIM:275350	TCN2	6948	HP:0000737	Irritability
OMIM:275350	TCN2	6948	HP:0012120	Methylmalonic aciduria
OMIM:275350	TCN2	6948	HP:0001874	Abnormality of neutrophils
OMIM:275350	TCN2	6948	HP:0002014	Diarrhea
OMIM:275350	TCN2	6948	HP:0001249	Intellectual disability
OMIM:275350	TCN2	6948	HP:0000007	Autosomal recessive inheritance
OMIM:275350	TCN2	6948	HP:0003220	Abnormality of chromosome stability
OMIM:275350	TCN2	6948	HP:0001972	Macrocytic anemia
OMIM:275350	TCN2	6948	HP:0004315	IgG deficiency
OMIM:275350	TCN2	6948	HP:0002013	Vomiting
OMIM:275350	TCN2	6948	HP:0001251	Ataxia
OMIM:275350	TCN2	6948	HP:0000153	Abnormality of the mouth
ORPHANET:52417	BIRC3	330	HP:0002017	Nausea and vomiting
ORPHANET:52417	BIRC3	330	HP:0002205	Recurrent respiratory infections
ORPHANET:52417	BIRC3	330	HP:0004370	Abnormality of temperature regulation
ORPHANET:52417	BIRC3	330	HP:0100721	Mediastinal lymphadenopathy
ORPHANET:52417	BIRC3	330	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:52417	BIRC3	330	HP:0002113	Pulmonary infiltrates
ORPHANET:52417	BIRC3	330	HP:0002027	Abdominal pain
ORPHANET:52417	BIRC3	330	HP:0000975	Hyperhidrosis
ORPHANET:52417	BIRC3	330	HP:0000632	Lacrimation abnormality
ORPHANET:52417	BIRC3	330	HP:0004377	Hematological neoplasm
ORPHANET:52417	BIRC3	330	HP:0002019	Constipation
ORPHANET:52417	BIRC3	330	HP:0000820	Abnormality of the thyroid gland
ORPHANET:52417	BIRC3	330	HP:0004295	Abnormality of the gastric mucosa
ORPHANET:52417	BIRC3	330	HP:0001824	Weight loss
ORPHANET:52417	MALT1	10892	HP:0002017	Nausea and vomiting
ORPHANET:52417	MALT1	10892	HP:0002205	Recurrent respiratory infections
ORPHANET:52417	MALT1	10892	HP:0004370	Abnormality of temperature regulation
ORPHANET:52417	MALT1	10892	HP:0100721	Mediastinal lymphadenopathy
ORPHANET:52417	MALT1	10892	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:52417	MALT1	10892	HP:0002113	Pulmonary infiltrates
ORPHANET:52417	MALT1	10892	HP:0002027	Abdominal pain
ORPHANET:52417	MALT1	10892	HP:0000975	Hyperhidrosis
ORPHANET:52417	MALT1	10892	HP:0000632	Lacrimation abnormality
ORPHANET:52417	MALT1	10892	HP:0004377	Hematological neoplasm
ORPHANET:52417	MALT1	10892	HP:0002019	Constipation
ORPHANET:52417	MALT1	10892	HP:0000820	Abnormality of the thyroid gland
ORPHANET:52417	MALT1	10892	HP:0004295	Abnormality of the gastric mucosa
ORPHANET:52417	MALT1	10892	HP:0001824	Weight loss
ORPHANET:52417	FOXP1	27086	HP:0002017	Nausea and vomiting
ORPHANET:52417	FOXP1	27086	HP:0002205	Recurrent respiratory infections
ORPHANET:52417	FOXP1	27086	HP:0004370	Abnormality of temperature regulation
ORPHANET:52417	FOXP1	27086	HP:0100721	Mediastinal lymphadenopathy
ORPHANET:52417	FOXP1	27086	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:52417	FOXP1	27086	HP:0002113	Pulmonary infiltrates
ORPHANET:52417	FOXP1	27086	HP:0002027	Abdominal pain
ORPHANET:52417	FOXP1	27086	HP:0000975	Hyperhidrosis
ORPHANET:52417	FOXP1	27086	HP:0000632	Lacrimation abnormality
ORPHANET:52417	FOXP1	27086	HP:0004377	Hematological neoplasm
ORPHANET:52417	FOXP1	27086	HP:0002019	Constipation
ORPHANET:52417	FOXP1	27086	HP:0000820	Abnormality of the thyroid gland
ORPHANET:52417	FOXP1	27086	HP:0004295	Abnormality of the gastric mucosa
ORPHANET:52417	FOXP1	27086	HP:0001824	Weight loss
OMIM:103900	CYP11B1	1584	HP:0000079	Abnormality of the urinary system
OMIM:103900	CYP11B1	1584	HP:0000822	Hypertension
OMIM:103900	CYP11B1	1584	HP:0008221	Adrenal hyperplasia
OMIM:103900	CYP11B1	1584	HP:0003674	Onset
OMIM:103900	CYP11B1	1584	HP:0000006	Autosomal dominant inheritance
OMIM:103900	CYP11B2	1585	HP:0000079	Abnormality of the urinary system
OMIM:103900	CYP11B2	1585	HP:0000822	Hypertension
OMIM:103900	CYP11B2	1585	HP:0008221	Adrenal hyperplasia
OMIM:103900	CYP11B2	1585	HP:0003674	Onset
OMIM:103900	CYP11B2	1585	HP:0000006	Autosomal dominant inheritance
OMIM:303800	OPN1MW	2652	HP:0001419	X-linked recessive inheritance
OMIM:615134	CDKN2A	1029	HP:0002861	Melanoma
OMIM:615134	CDKN2A	1029	HP:0000006	Autosomal dominant inheritance
OMIM:615134	CDKN2B	1030	HP:0002861	Melanoma
OMIM:615134	CDKN2B	1030	HP:0000006	Autosomal dominant inheritance
OMIM:615134	TERT	7015	HP:0002861	Melanoma
OMIM:615134	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:615134	CDKN2D	1032	HP:0002861	Melanoma
OMIM:615134	CDKN2D	1032	HP:0000006	Autosomal dominant inheritance
OMIM:615134	POT1	25913	HP:0002861	Melanoma
OMIM:615134	POT1	25913	HP:0000006	Autosomal dominant inheritance
OMIM:615134	CDK4	1019	HP:0002861	Melanoma
OMIM:615134	CDK4	1019	HP:0000006	Autosomal dominant inheritance
OMIM:615134	MC1R	4157	HP:0002861	Melanoma
OMIM:615134	MC1R	4157	HP:0000006	Autosomal dominant inheritance
OMIM:603554	ADA	100	HP:0001744	Splenomegaly
OMIM:603554	ADA	100	HP:0004430	Severe combined immunodeficiency
OMIM:603554	ADA	100	HP:0000778	Hypoplasia of the thymus
OMIM:603554	ADA	100	HP:0000821	Hypothyroidism
OMIM:603554	ADA	100	HP:0001019	Erythroderma
OMIM:603554	ADA	100	HP:0001596	Alopecia
OMIM:603554	ADA	100	HP:0002960	Autoimmunity
OMIM:603554	ADA	100	HP:0002716	Lymphadenopathy
OMIM:603554	ADA	100	HP:0001880	Eosinophilia
OMIM:603554	ADA	100	HP:0004429	Recurrent viral infections
OMIM:603554	ADA	100	HP:0002240	Hepatomegaly
OMIM:603554	ADA	100	HP:0002718	Recurrent bacterial infections
OMIM:603554	ADA	100	HP:0001974	Leukocytosis
OMIM:603554	ADA	100	HP:0100646	Thyroiditis
OMIM:603554	ADA	100	HP:0002665	Lymphoma
OMIM:603554	ADA	100	HP:0001903	Anemia
OMIM:603554	ADA	100	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:603554	ADA	100	HP:0000007	Autosomal recessive inheritance
OMIM:603554	ADA	100	HP:0001879	Abnormality of eosinophils
OMIM:603554	ADA	100	HP:0001072	Thickened skin
OMIM:603554	ADA	100	HP:0002024	Malabsorption
OMIM:603554	ADA	100	HP:0000958	Dry skin
OMIM:603554	ADA	100	HP:0002090	Pneumonia
OMIM:603554	ADA	100	HP:0005365	Severe B lymphocytopenia
OMIM:603554	ADA	100	HP:0002841	Recurrent fungal infections
OMIM:603554	ADA	100	HP:0004370	Abnormality of temperature regulation
OMIM:603554	ADA	100	HP:0002014	Diarrhea
OMIM:603554	ADA	100	HP:0100806	Sepsis
OMIM:603554	ADA	100	HP:0003075	Hypoproteinemia
OMIM:603554	ADA	100	HP:0001231	Abnormality of the fingernails
OMIM:603554	ADA	100	HP:0010976	B lymphocytopenia
OMIM:603554	ADA	100	HP:0001873	Thrombocytopenia
OMIM:603554	ADA	100	HP:0001508	Failure to thrive
OMIM:603554	ADA	100	HP:0000969	Edema
OMIM:603554	ADA	100	HP:0000944	Abnormality of the metaphyses
OMIM:603554	ADA	100	HP:0000989	Pruritus
OMIM:603554	ADA	100	HP:0000100	Nephrotic syndrome
OMIM:603554	CHD7	55636	HP:0001744	Splenomegaly
OMIM:603554	CHD7	55636	HP:0004430	Severe combined immunodeficiency
OMIM:603554	CHD7	55636	HP:0000778	Hypoplasia of the thymus
OMIM:603554	CHD7	55636	HP:0000821	Hypothyroidism
OMIM:603554	CHD7	55636	HP:0001019	Erythroderma
OMIM:603554	CHD7	55636	HP:0001596	Alopecia
OMIM:603554	CHD7	55636	HP:0002960	Autoimmunity
OMIM:603554	CHD7	55636	HP:0002716	Lymphadenopathy
OMIM:603554	CHD7	55636	HP:0001880	Eosinophilia
OMIM:603554	CHD7	55636	HP:0004429	Recurrent viral infections
OMIM:603554	CHD7	55636	HP:0002240	Hepatomegaly
OMIM:603554	CHD7	55636	HP:0002718	Recurrent bacterial infections
OMIM:603554	CHD7	55636	HP:0001974	Leukocytosis
OMIM:603554	CHD7	55636	HP:0100646	Thyroiditis
OMIM:603554	CHD7	55636	HP:0002665	Lymphoma
OMIM:603554	CHD7	55636	HP:0001903	Anemia
OMIM:603554	CHD7	55636	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:603554	CHD7	55636	HP:0000007	Autosomal recessive inheritance
OMIM:603554	CHD7	55636	HP:0001879	Abnormality of eosinophils
OMIM:603554	CHD7	55636	HP:0001072	Thickened skin
OMIM:603554	CHD7	55636	HP:0002024	Malabsorption
OMIM:603554	CHD7	55636	HP:0000958	Dry skin
OMIM:603554	CHD7	55636	HP:0002090	Pneumonia
OMIM:603554	CHD7	55636	HP:0005365	Severe B lymphocytopenia
OMIM:603554	CHD7	55636	HP:0002841	Recurrent fungal infections
OMIM:603554	CHD7	55636	HP:0004370	Abnormality of temperature regulation
OMIM:603554	CHD7	55636	HP:0002014	Diarrhea
OMIM:603554	CHD7	55636	HP:0100806	Sepsis
OMIM:603554	CHD7	55636	HP:0003075	Hypoproteinemia
OMIM:603554	CHD7	55636	HP:0001231	Abnormality of the fingernails
OMIM:603554	CHD7	55636	HP:0010976	B lymphocytopenia
OMIM:603554	CHD7	55636	HP:0001873	Thrombocytopenia
OMIM:603554	CHD7	55636	HP:0001508	Failure to thrive
OMIM:603554	CHD7	55636	HP:0000969	Edema
OMIM:603554	CHD7	55636	HP:0000944	Abnormality of the metaphyses
OMIM:603554	CHD7	55636	HP:0000989	Pruritus
OMIM:603554	CHD7	55636	HP:0000100	Nephrotic syndrome
OMIM:603554	DCLRE1C	64421	HP:0001744	Splenomegaly
OMIM:603554	DCLRE1C	64421	HP:0004430	Severe combined immunodeficiency
OMIM:603554	DCLRE1C	64421	HP:0000778	Hypoplasia of the thymus
OMIM:603554	DCLRE1C	64421	HP:0000821	Hypothyroidism
OMIM:603554	DCLRE1C	64421	HP:0001019	Erythroderma
OMIM:603554	DCLRE1C	64421	HP:0001596	Alopecia
OMIM:603554	DCLRE1C	64421	HP:0002960	Autoimmunity
OMIM:603554	DCLRE1C	64421	HP:0002716	Lymphadenopathy
OMIM:603554	DCLRE1C	64421	HP:0001880	Eosinophilia
OMIM:603554	DCLRE1C	64421	HP:0004429	Recurrent viral infections
OMIM:603554	DCLRE1C	64421	HP:0002240	Hepatomegaly
OMIM:603554	DCLRE1C	64421	HP:0002718	Recurrent bacterial infections
OMIM:603554	DCLRE1C	64421	HP:0001974	Leukocytosis
OMIM:603554	DCLRE1C	64421	HP:0100646	Thyroiditis
OMIM:603554	DCLRE1C	64421	HP:0002665	Lymphoma
OMIM:603554	DCLRE1C	64421	HP:0001903	Anemia
OMIM:603554	DCLRE1C	64421	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:603554	DCLRE1C	64421	HP:0000007	Autosomal recessive inheritance
OMIM:603554	DCLRE1C	64421	HP:0001879	Abnormality of eosinophils
OMIM:603554	DCLRE1C	64421	HP:0001072	Thickened skin
OMIM:603554	DCLRE1C	64421	HP:0002024	Malabsorption
OMIM:603554	DCLRE1C	64421	HP:0000958	Dry skin
OMIM:603554	DCLRE1C	64421	HP:0002090	Pneumonia
OMIM:603554	DCLRE1C	64421	HP:0005365	Severe B lymphocytopenia
OMIM:603554	DCLRE1C	64421	HP:0002841	Recurrent fungal infections
OMIM:603554	DCLRE1C	64421	HP:0004370	Abnormality of temperature regulation
OMIM:603554	DCLRE1C	64421	HP:0002014	Diarrhea
OMIM:603554	DCLRE1C	64421	HP:0100806	Sepsis
OMIM:603554	DCLRE1C	64421	HP:0003075	Hypoproteinemia
OMIM:603554	DCLRE1C	64421	HP:0001231	Abnormality of the fingernails
OMIM:603554	DCLRE1C	64421	HP:0010976	B lymphocytopenia
OMIM:603554	DCLRE1C	64421	HP:0001873	Thrombocytopenia
OMIM:603554	DCLRE1C	64421	HP:0001508	Failure to thrive
OMIM:603554	DCLRE1C	64421	HP:0000969	Edema
OMIM:603554	DCLRE1C	64421	HP:0000944	Abnormality of the metaphyses
OMIM:603554	DCLRE1C	64421	HP:0000989	Pruritus
OMIM:603554	DCLRE1C	64421	HP:0000100	Nephrotic syndrome
OMIM:603554	RMRP	6023	HP:0001744	Splenomegaly
OMIM:603554	RMRP	6023	HP:0004430	Severe combined immunodeficiency
OMIM:603554	RMRP	6023	HP:0000778	Hypoplasia of the thymus
OMIM:603554	RMRP	6023	HP:0000821	Hypothyroidism
OMIM:603554	RMRP	6023	HP:0001019	Erythroderma
OMIM:603554	RMRP	6023	HP:0001596	Alopecia
OMIM:603554	RMRP	6023	HP:0002960	Autoimmunity
OMIM:603554	RMRP	6023	HP:0002716	Lymphadenopathy
OMIM:603554	RMRP	6023	HP:0001880	Eosinophilia
OMIM:603554	RMRP	6023	HP:0004429	Recurrent viral infections
OMIM:603554	RMRP	6023	HP:0002240	Hepatomegaly
OMIM:603554	RMRP	6023	HP:0002718	Recurrent bacterial infections
OMIM:603554	RMRP	6023	HP:0001974	Leukocytosis
OMIM:603554	RMRP	6023	HP:0100646	Thyroiditis
OMIM:603554	RMRP	6023	HP:0002665	Lymphoma
OMIM:603554	RMRP	6023	HP:0001903	Anemia
OMIM:603554	RMRP	6023	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:603554	RMRP	6023	HP:0000007	Autosomal recessive inheritance
OMIM:603554	RMRP	6023	HP:0001879	Abnormality of eosinophils
OMIM:603554	RMRP	6023	HP:0001072	Thickened skin
OMIM:603554	RMRP	6023	HP:0002024	Malabsorption
OMIM:603554	RMRP	6023	HP:0000958	Dry skin
OMIM:603554	RMRP	6023	HP:0002090	Pneumonia
OMIM:603554	RMRP	6023	HP:0005365	Severe B lymphocytopenia
OMIM:603554	RMRP	6023	HP:0002841	Recurrent fungal infections
OMIM:603554	RMRP	6023	HP:0004370	Abnormality of temperature regulation
OMIM:603554	RMRP	6023	HP:0002014	Diarrhea
OMIM:603554	RMRP	6023	HP:0100806	Sepsis
OMIM:603554	RMRP	6023	HP:0003075	Hypoproteinemia
OMIM:603554	RMRP	6023	HP:0001231	Abnormality of the fingernails
OMIM:603554	RMRP	6023	HP:0010976	B lymphocytopenia
OMIM:603554	RMRP	6023	HP:0001873	Thrombocytopenia
OMIM:603554	RMRP	6023	HP:0001508	Failure to thrive
OMIM:603554	RMRP	6023	HP:0000969	Edema
OMIM:603554	RMRP	6023	HP:0000944	Abnormality of the metaphyses
OMIM:603554	RMRP	6023	HP:0000989	Pruritus
OMIM:603554	RMRP	6023	HP:0000100	Nephrotic syndrome
OMIM:603554	IL7R	3575	HP:0001744	Splenomegaly
OMIM:603554	IL7R	3575	HP:0004430	Severe combined immunodeficiency
OMIM:603554	IL7R	3575	HP:0000778	Hypoplasia of the thymus
OMIM:603554	IL7R	3575	HP:0000821	Hypothyroidism
OMIM:603554	IL7R	3575	HP:0001019	Erythroderma
OMIM:603554	IL7R	3575	HP:0001596	Alopecia
OMIM:603554	IL7R	3575	HP:0002960	Autoimmunity
OMIM:603554	IL7R	3575	HP:0002716	Lymphadenopathy
OMIM:603554	IL7R	3575	HP:0001880	Eosinophilia
OMIM:603554	IL7R	3575	HP:0004429	Recurrent viral infections
OMIM:603554	IL7R	3575	HP:0002240	Hepatomegaly
OMIM:603554	IL7R	3575	HP:0002718	Recurrent bacterial infections
OMIM:603554	IL7R	3575	HP:0001974	Leukocytosis
OMIM:603554	IL7R	3575	HP:0100646	Thyroiditis
OMIM:603554	IL7R	3575	HP:0002665	Lymphoma
OMIM:603554	IL7R	3575	HP:0001903	Anemia
OMIM:603554	IL7R	3575	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:603554	IL7R	3575	HP:0000007	Autosomal recessive inheritance
OMIM:603554	IL7R	3575	HP:0001879	Abnormality of eosinophils
OMIM:603554	IL7R	3575	HP:0001072	Thickened skin
OMIM:603554	IL7R	3575	HP:0002024	Malabsorption
OMIM:603554	IL7R	3575	HP:0000958	Dry skin
OMIM:603554	IL7R	3575	HP:0002090	Pneumonia
OMIM:603554	IL7R	3575	HP:0005365	Severe B lymphocytopenia
OMIM:603554	IL7R	3575	HP:0002841	Recurrent fungal infections
OMIM:603554	IL7R	3575	HP:0004370	Abnormality of temperature regulation
OMIM:603554	IL7R	3575	HP:0002014	Diarrhea
OMIM:603554	IL7R	3575	HP:0100806	Sepsis
OMIM:603554	IL7R	3575	HP:0003075	Hypoproteinemia
OMIM:603554	IL7R	3575	HP:0001231	Abnormality of the fingernails
OMIM:603554	IL7R	3575	HP:0010976	B lymphocytopenia
OMIM:603554	IL7R	3575	HP:0001873	Thrombocytopenia
OMIM:603554	IL7R	3575	HP:0001508	Failure to thrive
OMIM:603554	IL7R	3575	HP:0000969	Edema
OMIM:603554	IL7R	3575	HP:0000944	Abnormality of the metaphyses
OMIM:603554	IL7R	3575	HP:0000989	Pruritus
OMIM:603554	IL7R	3575	HP:0000100	Nephrotic syndrome
OMIM:603554	RAG1	5896	HP:0001744	Splenomegaly
OMIM:603554	RAG1	5896	HP:0004430	Severe combined immunodeficiency
OMIM:603554	RAG1	5896	HP:0000778	Hypoplasia of the thymus
OMIM:603554	RAG1	5896	HP:0000821	Hypothyroidism
OMIM:603554	RAG1	5896	HP:0001019	Erythroderma
OMIM:603554	RAG1	5896	HP:0001596	Alopecia
OMIM:603554	RAG1	5896	HP:0002960	Autoimmunity
OMIM:603554	RAG1	5896	HP:0002716	Lymphadenopathy
OMIM:603554	RAG1	5896	HP:0001880	Eosinophilia
OMIM:603554	RAG1	5896	HP:0004429	Recurrent viral infections
OMIM:603554	RAG1	5896	HP:0002240	Hepatomegaly
OMIM:603554	RAG1	5896	HP:0002718	Recurrent bacterial infections
OMIM:603554	RAG1	5896	HP:0001974	Leukocytosis
OMIM:603554	RAG1	5896	HP:0100646	Thyroiditis
OMIM:603554	RAG1	5896	HP:0002665	Lymphoma
OMIM:603554	RAG1	5896	HP:0001903	Anemia
OMIM:603554	RAG1	5896	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:603554	RAG1	5896	HP:0000007	Autosomal recessive inheritance
OMIM:603554	RAG1	5896	HP:0001879	Abnormality of eosinophils
OMIM:603554	RAG1	5896	HP:0001072	Thickened skin
OMIM:603554	RAG1	5896	HP:0002024	Malabsorption
OMIM:603554	RAG1	5896	HP:0000958	Dry skin
OMIM:603554	RAG1	5896	HP:0002090	Pneumonia
OMIM:603554	RAG1	5896	HP:0005365	Severe B lymphocytopenia
OMIM:603554	RAG1	5896	HP:0002841	Recurrent fungal infections
OMIM:603554	RAG1	5896	HP:0004370	Abnormality of temperature regulation
OMIM:603554	RAG1	5896	HP:0002014	Diarrhea
OMIM:603554	RAG1	5896	HP:0100806	Sepsis
OMIM:603554	RAG1	5896	HP:0003075	Hypoproteinemia
OMIM:603554	RAG1	5896	HP:0001231	Abnormality of the fingernails
OMIM:603554	RAG1	5896	HP:0010976	B lymphocytopenia
OMIM:603554	RAG1	5896	HP:0001873	Thrombocytopenia
OMIM:603554	RAG1	5896	HP:0001508	Failure to thrive
OMIM:603554	RAG1	5896	HP:0000969	Edema
OMIM:603554	RAG1	5896	HP:0000944	Abnormality of the metaphyses
OMIM:603554	RAG1	5896	HP:0000989	Pruritus
OMIM:603554	RAG1	5896	HP:0000100	Nephrotic syndrome
OMIM:603554	RAG2	5897	HP:0001744	Splenomegaly
OMIM:603554	RAG2	5897	HP:0004430	Severe combined immunodeficiency
OMIM:603554	RAG2	5897	HP:0000778	Hypoplasia of the thymus
OMIM:603554	RAG2	5897	HP:0000821	Hypothyroidism
OMIM:603554	RAG2	5897	HP:0001019	Erythroderma
OMIM:603554	RAG2	5897	HP:0001596	Alopecia
OMIM:603554	RAG2	5897	HP:0002960	Autoimmunity
OMIM:603554	RAG2	5897	HP:0002716	Lymphadenopathy
OMIM:603554	RAG2	5897	HP:0001880	Eosinophilia
OMIM:603554	RAG2	5897	HP:0004429	Recurrent viral infections
OMIM:603554	RAG2	5897	HP:0002240	Hepatomegaly
OMIM:603554	RAG2	5897	HP:0002718	Recurrent bacterial infections
OMIM:603554	RAG2	5897	HP:0001974	Leukocytosis
OMIM:603554	RAG2	5897	HP:0100646	Thyroiditis
OMIM:603554	RAG2	5897	HP:0002665	Lymphoma
OMIM:603554	RAG2	5897	HP:0001903	Anemia
OMIM:603554	RAG2	5897	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:603554	RAG2	5897	HP:0000007	Autosomal recessive inheritance
OMIM:603554	RAG2	5897	HP:0001879	Abnormality of eosinophils
OMIM:603554	RAG2	5897	HP:0001072	Thickened skin
OMIM:603554	RAG2	5897	HP:0002024	Malabsorption
OMIM:603554	RAG2	5897	HP:0000958	Dry skin
OMIM:603554	RAG2	5897	HP:0002090	Pneumonia
OMIM:603554	RAG2	5897	HP:0005365	Severe B lymphocytopenia
OMIM:603554	RAG2	5897	HP:0002841	Recurrent fungal infections
OMIM:603554	RAG2	5897	HP:0004370	Abnormality of temperature regulation
OMIM:603554	RAG2	5897	HP:0002014	Diarrhea
OMIM:603554	RAG2	5897	HP:0100806	Sepsis
OMIM:603554	RAG2	5897	HP:0003075	Hypoproteinemia
OMIM:603554	RAG2	5897	HP:0001231	Abnormality of the fingernails
OMIM:603554	RAG2	5897	HP:0010976	B lymphocytopenia
OMIM:603554	RAG2	5897	HP:0001873	Thrombocytopenia
OMIM:603554	RAG2	5897	HP:0001508	Failure to thrive
OMIM:603554	RAG2	5897	HP:0000969	Edema
OMIM:603554	RAG2	5897	HP:0000944	Abnormality of the metaphyses
OMIM:603554	RAG2	5897	HP:0000989	Pruritus
OMIM:603554	RAG2	5897	HP:0000100	Nephrotic syndrome
OMIM:603554	IL2RG	3561	HP:0001744	Splenomegaly
OMIM:603554	IL2RG	3561	HP:0004430	Severe combined immunodeficiency
OMIM:603554	IL2RG	3561	HP:0000778	Hypoplasia of the thymus
OMIM:603554	IL2RG	3561	HP:0000821	Hypothyroidism
OMIM:603554	IL2RG	3561	HP:0001019	Erythroderma
OMIM:603554	IL2RG	3561	HP:0001596	Alopecia
OMIM:603554	IL2RG	3561	HP:0002960	Autoimmunity
OMIM:603554	IL2RG	3561	HP:0002716	Lymphadenopathy
OMIM:603554	IL2RG	3561	HP:0001880	Eosinophilia
OMIM:603554	IL2RG	3561	HP:0004429	Recurrent viral infections
OMIM:603554	IL2RG	3561	HP:0002240	Hepatomegaly
OMIM:603554	IL2RG	3561	HP:0002718	Recurrent bacterial infections
OMIM:603554	IL2RG	3561	HP:0001974	Leukocytosis
OMIM:603554	IL2RG	3561	HP:0100646	Thyroiditis
OMIM:603554	IL2RG	3561	HP:0002665	Lymphoma
OMIM:603554	IL2RG	3561	HP:0001903	Anemia
OMIM:603554	IL2RG	3561	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:603554	IL2RG	3561	HP:0000007	Autosomal recessive inheritance
OMIM:603554	IL2RG	3561	HP:0001879	Abnormality of eosinophils
OMIM:603554	IL2RG	3561	HP:0001072	Thickened skin
OMIM:603554	IL2RG	3561	HP:0002024	Malabsorption
OMIM:603554	IL2RG	3561	HP:0000958	Dry skin
OMIM:603554	IL2RG	3561	HP:0002090	Pneumonia
OMIM:603554	IL2RG	3561	HP:0005365	Severe B lymphocytopenia
OMIM:603554	IL2RG	3561	HP:0002841	Recurrent fungal infections
OMIM:603554	IL2RG	3561	HP:0004370	Abnormality of temperature regulation
OMIM:603554	IL2RG	3561	HP:0002014	Diarrhea
OMIM:603554	IL2RG	3561	HP:0100806	Sepsis
OMIM:603554	IL2RG	3561	HP:0003075	Hypoproteinemia
OMIM:603554	IL2RG	3561	HP:0001231	Abnormality of the fingernails
OMIM:603554	IL2RG	3561	HP:0010976	B lymphocytopenia
OMIM:603554	IL2RG	3561	HP:0001873	Thrombocytopenia
OMIM:603554	IL2RG	3561	HP:0001508	Failure to thrive
OMIM:603554	IL2RG	3561	HP:0000969	Edema
OMIM:603554	IL2RG	3561	HP:0000944	Abnormality of the metaphyses
OMIM:603554	IL2RG	3561	HP:0000989	Pruritus
OMIM:603554	IL2RG	3561	HP:0000100	Nephrotic syndrome
OMIM:603554	LIG4	3981	HP:0001744	Splenomegaly
OMIM:603554	LIG4	3981	HP:0004430	Severe combined immunodeficiency
OMIM:603554	LIG4	3981	HP:0000778	Hypoplasia of the thymus
OMIM:603554	LIG4	3981	HP:0000821	Hypothyroidism
OMIM:603554	LIG4	3981	HP:0001019	Erythroderma
OMIM:603554	LIG4	3981	HP:0001596	Alopecia
OMIM:603554	LIG4	3981	HP:0002960	Autoimmunity
OMIM:603554	LIG4	3981	HP:0002716	Lymphadenopathy
OMIM:603554	LIG4	3981	HP:0001880	Eosinophilia
OMIM:603554	LIG4	3981	HP:0004429	Recurrent viral infections
OMIM:603554	LIG4	3981	HP:0002240	Hepatomegaly
OMIM:603554	LIG4	3981	HP:0002718	Recurrent bacterial infections
OMIM:603554	LIG4	3981	HP:0001974	Leukocytosis
OMIM:603554	LIG4	3981	HP:0100646	Thyroiditis
OMIM:603554	LIG4	3981	HP:0002665	Lymphoma
OMIM:603554	LIG4	3981	HP:0001903	Anemia
OMIM:603554	LIG4	3981	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:603554	LIG4	3981	HP:0000007	Autosomal recessive inheritance
OMIM:603554	LIG4	3981	HP:0001879	Abnormality of eosinophils
OMIM:603554	LIG4	3981	HP:0001072	Thickened skin
OMIM:603554	LIG4	3981	HP:0002024	Malabsorption
OMIM:603554	LIG4	3981	HP:0000958	Dry skin
OMIM:603554	LIG4	3981	HP:0002090	Pneumonia
OMIM:603554	LIG4	3981	HP:0005365	Severe B lymphocytopenia
OMIM:603554	LIG4	3981	HP:0002841	Recurrent fungal infections
OMIM:603554	LIG4	3981	HP:0004370	Abnormality of temperature regulation
OMIM:603554	LIG4	3981	HP:0002014	Diarrhea
OMIM:603554	LIG4	3981	HP:0100806	Sepsis
OMIM:603554	LIG4	3981	HP:0003075	Hypoproteinemia
OMIM:603554	LIG4	3981	HP:0001231	Abnormality of the fingernails
OMIM:603554	LIG4	3981	HP:0010976	B lymphocytopenia
OMIM:603554	LIG4	3981	HP:0001873	Thrombocytopenia
OMIM:603554	LIG4	3981	HP:0001508	Failure to thrive
OMIM:603554	LIG4	3981	HP:0000969	Edema
OMIM:603554	LIG4	3981	HP:0000944	Abnormality of the metaphyses
OMIM:603554	LIG4	3981	HP:0000989	Pruritus
OMIM:603554	LIG4	3981	HP:0000100	Nephrotic syndrome
OMIM:246650	LMF1	64788	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:246650	LMF1	64788	HP:0000007	Autosomal recessive inheritance
OMIM:603830	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:603830	CALM1	801	HP:0001663	Ventricular fibrillation
OMIM:603830	CALM1	801	HP:0001645	Sudden cardiac death
OMIM:603830	CALM1	801	HP:0001279	Syncope
OMIM:603830	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:603830	CALM1	801	HP:0001664	Torsade de pointes
OMIM:603830	CALM2	805	HP:0001657	Prolonged QT interval
OMIM:603830	CALM2	805	HP:0001663	Ventricular fibrillation
OMIM:603830	CALM2	805	HP:0001645	Sudden cardiac death
OMIM:603830	CALM2	805	HP:0001279	Syncope
OMIM:603830	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:603830	CALM2	805	HP:0001664	Torsade de pointes
OMIM:603830	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:603830	KCNE2	9992	HP:0001663	Ventricular fibrillation
OMIM:603830	KCNE2	9992	HP:0001645	Sudden cardiac death
OMIM:603830	KCNE2	9992	HP:0001279	Syncope
OMIM:603830	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:603830	KCNE2	9992	HP:0001664	Torsade de pointes
OMIM:603830	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:603830	KCNQ1	3784	HP:0001663	Ventricular fibrillation
OMIM:603830	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:603830	KCNQ1	3784	HP:0001279	Syncope
OMIM:603830	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:603830	KCNQ1	3784	HP:0001664	Torsade de pointes
OMIM:603830	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:603830	KCNE1	3753	HP:0001663	Ventricular fibrillation
OMIM:603830	KCNE1	3753	HP:0001645	Sudden cardiac death
OMIM:603830	KCNE1	3753	HP:0001279	Syncope
OMIM:603830	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:603830	KCNE1	3753	HP:0001664	Torsade de pointes
OMIM:603830	KCNH2	3757	HP:0001657	Prolonged QT interval
OMIM:603830	KCNH2	3757	HP:0001663	Ventricular fibrillation
OMIM:603830	KCNH2	3757	HP:0001645	Sudden cardiac death
OMIM:603830	KCNH2	3757	HP:0001279	Syncope
OMIM:603830	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:603830	KCNH2	3757	HP:0001664	Torsade de pointes
OMIM:603830	SNTA1	6640	HP:0001657	Prolonged QT interval
OMIM:603830	SNTA1	6640	HP:0001663	Ventricular fibrillation
OMIM:603830	SNTA1	6640	HP:0001645	Sudden cardiac death
OMIM:603830	SNTA1	6640	HP:0001279	Syncope
OMIM:603830	SNTA1	6640	HP:0000006	Autosomal dominant inheritance
OMIM:603830	SNTA1	6640	HP:0001664	Torsade de pointes
OMIM:603830	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:603830	KCNJ5	3762	HP:0001663	Ventricular fibrillation
OMIM:603830	KCNJ5	3762	HP:0001645	Sudden cardiac death
OMIM:603830	KCNJ5	3762	HP:0001279	Syncope
OMIM:603830	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:603830	KCNJ5	3762	HP:0001664	Torsade de pointes
OMIM:603830	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:603830	SCN4B	6330	HP:0001663	Ventricular fibrillation
OMIM:603830	SCN4B	6330	HP:0001645	Sudden cardiac death
OMIM:603830	SCN4B	6330	HP:0001279	Syncope
OMIM:603830	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:603830	SCN4B	6330	HP:0001664	Torsade de pointes
OMIM:603830	NOS1AP	9722	HP:0001657	Prolonged QT interval
OMIM:603830	NOS1AP	9722	HP:0001663	Ventricular fibrillation
OMIM:603830	NOS1AP	9722	HP:0001645	Sudden cardiac death
OMIM:603830	NOS1AP	9722	HP:0001279	Syncope
OMIM:603830	NOS1AP	9722	HP:0000006	Autosomal dominant inheritance
OMIM:603830	NOS1AP	9722	HP:0001664	Torsade de pointes
OMIM:603830	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:603830	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:603830	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:603830	SCN5A	6331	HP:0001279	Syncope
OMIM:603830	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:603830	SCN5A	6331	HP:0001664	Torsade de pointes
OMIM:603830	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:603830	CAV3	859	HP:0001663	Ventricular fibrillation
OMIM:603830	CAV3	859	HP:0001645	Sudden cardiac death
OMIM:603830	CAV3	859	HP:0001279	Syncope
OMIM:603830	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:603830	CAV3	859	HP:0001664	Torsade de pointes
OMIM:603830	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:603830	AKAP9	10142	HP:0001663	Ventricular fibrillation
OMIM:603830	AKAP9	10142	HP:0001645	Sudden cardiac death
OMIM:603830	AKAP9	10142	HP:0001279	Syncope
OMIM:603830	AKAP9	10142	HP:0000006	Autosomal dominant inheritance
OMIM:603830	AKAP9	10142	HP:0001664	Torsade de pointes
OMIM:603830	ANK2	287	HP:0001657	Prolonged QT interval
OMIM:603830	ANK2	287	HP:0001663	Ventricular fibrillation
OMIM:603830	ANK2	287	HP:0001645	Sudden cardiac death
OMIM:603830	ANK2	287	HP:0001279	Syncope
OMIM:603830	ANK2	287	HP:0000006	Autosomal dominant inheritance
OMIM:603830	ANK2	287	HP:0001664	Torsade de pointes
OMIM:614900	TSR2	90121	HP:0002984	Hypoplasia of the radius
OMIM:614900	TSR2	90121	HP:0001875	Neutropenia
OMIM:614900	TSR2	90121	HP:0000175	Cleft palate
OMIM:614900	TSR2	90121	HP:0000413	Atresia of the external auditory canal
OMIM:614900	TSR2	90121	HP:0001647	Bicuspid aortic valve
OMIM:614900	TSR2	90121	HP:0009777	Absent thumb
OMIM:614900	TSR2	90121	HP:0003022	Hypoplasia of the ulna
OMIM:614900	TSR2	90121	HP:0004322	Short stature
OMIM:614900	TSR2	90121	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	TSR2	90121	HP:0001903	Anemia
OMIM:614900	TSR2	90121	HP:0000104	Renal agenesis
OMIM:614900	TSR2	90121	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPL26	6154	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPL26	6154	HP:0001875	Neutropenia
OMIM:614900	RPL26	6154	HP:0000175	Cleft palate
OMIM:614900	RPL26	6154	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPL26	6154	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPL26	6154	HP:0009777	Absent thumb
OMIM:614900	RPL26	6154	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPL26	6154	HP:0004322	Short stature
OMIM:614900	RPL26	6154	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPL26	6154	HP:0001903	Anemia
OMIM:614900	RPL26	6154	HP:0000104	Renal agenesis
OMIM:614900	RPL26	6154	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPS17	6218	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPS17	6218	HP:0001875	Neutropenia
OMIM:614900	RPS17	6218	HP:0000175	Cleft palate
OMIM:614900	RPS17	6218	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPS17	6218	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPS17	6218	HP:0009777	Absent thumb
OMIM:614900	RPS17	6218	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPS17	6218	HP:0004322	Short stature
OMIM:614900	RPS17	6218	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPS17	6218	HP:0001903	Anemia
OMIM:614900	RPS17	6218	HP:0000104	Renal agenesis
OMIM:614900	RPS17	6218	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPL5	6125	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPL5	6125	HP:0001875	Neutropenia
OMIM:614900	RPL5	6125	HP:0000175	Cleft palate
OMIM:614900	RPL5	6125	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPL5	6125	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPL5	6125	HP:0009777	Absent thumb
OMIM:614900	RPL5	6125	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPL5	6125	HP:0004322	Short stature
OMIM:614900	RPL5	6125	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPL5	6125	HP:0001903	Anemia
OMIM:614900	RPL5	6125	HP:0000104	Renal agenesis
OMIM:614900	RPL5	6125	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPS19	6223	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPS19	6223	HP:0001875	Neutropenia
OMIM:614900	RPS19	6223	HP:0000175	Cleft palate
OMIM:614900	RPS19	6223	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPS19	6223	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPS19	6223	HP:0009777	Absent thumb
OMIM:614900	RPS19	6223	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPS19	6223	HP:0004322	Short stature
OMIM:614900	RPS19	6223	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPS19	6223	HP:0001903	Anemia
OMIM:614900	RPS19	6223	HP:0000104	Renal agenesis
OMIM:614900	RPS19	6223	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPS24	6229	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPS24	6229	HP:0001875	Neutropenia
OMIM:614900	RPS24	6229	HP:0000175	Cleft palate
OMIM:614900	RPS24	6229	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPS24	6229	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPS24	6229	HP:0009777	Absent thumb
OMIM:614900	RPS24	6229	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPS24	6229	HP:0004322	Short stature
OMIM:614900	RPS24	6229	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPS24	6229	HP:0001903	Anemia
OMIM:614900	RPS24	6229	HP:0000104	Renal agenesis
OMIM:614900	RPS24	6229	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPL35A	6165	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPL35A	6165	HP:0001875	Neutropenia
OMIM:614900	RPL35A	6165	HP:0000175	Cleft palate
OMIM:614900	RPL35A	6165	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPL35A	6165	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPL35A	6165	HP:0009777	Absent thumb
OMIM:614900	RPL35A	6165	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPL35A	6165	HP:0004322	Short stature
OMIM:614900	RPL35A	6165	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPL35A	6165	HP:0001903	Anemia
OMIM:614900	RPL35A	6165	HP:0000104	Renal agenesis
OMIM:614900	RPL35A	6165	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPL11	6135	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPL11	6135	HP:0001875	Neutropenia
OMIM:614900	RPL11	6135	HP:0000175	Cleft palate
OMIM:614900	RPL11	6135	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPL11	6135	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPL11	6135	HP:0009777	Absent thumb
OMIM:614900	RPL11	6135	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPL11	6135	HP:0004322	Short stature
OMIM:614900	RPL11	6135	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPL11	6135	HP:0001903	Anemia
OMIM:614900	RPL11	6135	HP:0000104	Renal agenesis
OMIM:614900	RPL11	6135	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPS26	6231	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPS26	6231	HP:0001875	Neutropenia
OMIM:614900	RPS26	6231	HP:0000175	Cleft palate
OMIM:614900	RPS26	6231	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPS26	6231	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPS26	6231	HP:0009777	Absent thumb
OMIM:614900	RPS26	6231	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPS26	6231	HP:0004322	Short stature
OMIM:614900	RPS26	6231	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPS26	6231	HP:0001903	Anemia
OMIM:614900	RPS26	6231	HP:0000104	Renal agenesis
OMIM:614900	RPS26	6231	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPS7	6201	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPS7	6201	HP:0001875	Neutropenia
OMIM:614900	RPS7	6201	HP:0000175	Cleft palate
OMIM:614900	RPS7	6201	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPS7	6201	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPS7	6201	HP:0009777	Absent thumb
OMIM:614900	RPS7	6201	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPS7	6201	HP:0004322	Short stature
OMIM:614900	RPS7	6201	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPS7	6201	HP:0001903	Anemia
OMIM:614900	RPS7	6201	HP:0000104	Renal agenesis
OMIM:614900	RPS7	6201	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPL15	6138	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPL15	6138	HP:0001875	Neutropenia
OMIM:614900	RPL15	6138	HP:0000175	Cleft palate
OMIM:614900	RPL15	6138	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPL15	6138	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPL15	6138	HP:0009777	Absent thumb
OMIM:614900	RPL15	6138	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPL15	6138	HP:0004322	Short stature
OMIM:614900	RPL15	6138	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPL15	6138	HP:0001903	Anemia
OMIM:614900	RPL15	6138	HP:0000104	Renal agenesis
OMIM:614900	RPL15	6138	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPS28	6234	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPS28	6234	HP:0001875	Neutropenia
OMIM:614900	RPS28	6234	HP:0000175	Cleft palate
OMIM:614900	RPS28	6234	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPS28	6234	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPS28	6234	HP:0009777	Absent thumb
OMIM:614900	RPS28	6234	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPS28	6234	HP:0004322	Short stature
OMIM:614900	RPS28	6234	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPS28	6234	HP:0001903	Anemia
OMIM:614900	RPS28	6234	HP:0000104	Renal agenesis
OMIM:614900	RPS28	6234	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPS29	6235	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPS29	6235	HP:0001875	Neutropenia
OMIM:614900	RPS29	6235	HP:0000175	Cleft palate
OMIM:614900	RPS29	6235	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPS29	6235	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPS29	6235	HP:0009777	Absent thumb
OMIM:614900	RPS29	6235	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPS29	6235	HP:0004322	Short stature
OMIM:614900	RPS29	6235	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPS29	6235	HP:0001903	Anemia
OMIM:614900	RPS29	6235	HP:0000104	Renal agenesis
OMIM:614900	RPS29	6235	HP:0000492	Abnormality of the eyelid
OMIM:614900	RPS10	6204	HP:0002984	Hypoplasia of the radius
OMIM:614900	RPS10	6204	HP:0001875	Neutropenia
OMIM:614900	RPS10	6204	HP:0000175	Cleft palate
OMIM:614900	RPS10	6204	HP:0000413	Atresia of the external auditory canal
OMIM:614900	RPS10	6204	HP:0001647	Bicuspid aortic valve
OMIM:614900	RPS10	6204	HP:0009777	Absent thumb
OMIM:614900	RPS10	6204	HP:0003022	Hypoplasia of the ulna
OMIM:614900	RPS10	6204	HP:0004322	Short stature
OMIM:614900	RPS10	6204	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	RPS10	6204	HP:0001903	Anemia
OMIM:614900	RPS10	6204	HP:0000104	Renal agenesis
OMIM:614900	RPS10	6204	HP:0000492	Abnormality of the eyelid
OMIM:614900	GATA1	2623	HP:0002984	Hypoplasia of the radius
OMIM:614900	GATA1	2623	HP:0001875	Neutropenia
OMIM:614900	GATA1	2623	HP:0000175	Cleft palate
OMIM:614900	GATA1	2623	HP:0000413	Atresia of the external auditory canal
OMIM:614900	GATA1	2623	HP:0001647	Bicuspid aortic valve
OMIM:614900	GATA1	2623	HP:0009777	Absent thumb
OMIM:614900	GATA1	2623	HP:0003022	Hypoplasia of the ulna
OMIM:614900	GATA1	2623	HP:0004322	Short stature
OMIM:614900	GATA1	2623	HP:0000402	Stenosis of the external auditory canal
OMIM:614900	GATA1	2623	HP:0001903	Anemia
OMIM:614900	GATA1	2623	HP:0000104	Renal agenesis
OMIM:614900	GATA1	2623	HP:0000492	Abnormality of the eyelid
ORPHANET:30925	AVP	551	HP:0004372	Reduced consciousness/confusion
ORPHANET:30925	AVP	551	HP:0000873	Diabetes insipidus
ORPHANET:30925	AVP	551	HP:0000708	Behavioral abnormality
ORPHANET:30925	AVP	551	HP:0001824	Weight loss
ORPHANET:30925	AVP	551	HP:0004370	Abnormality of temperature regulation
ORPHANET:30925	AVP	551	HP:0002017	Nausea and vomiting
ORPHANET:30925	AVP	551	HP:0012211	Abnormal renal physiology
ORPHANET:30925	AVP	551	HP:0002024	Malabsorption
OMIM:180500	FOXC1	2296	HP:0002023	Anal atresia
OMIM:180500	FOXC1	2296	HP:0000047	Hypospadias
OMIM:180500	FOXC1	2296	HP:0000219	Thin upper lip vermilion
OMIM:180500	FOXC1	2296	HP:0000501	Glaucoma
OMIM:180500	FOXC1	2296	HP:0000006	Autosomal dominant inheritance
OMIM:180500	FOXC1	2296	HP:0000327	Hypoplasia of the maxilla
OMIM:180500	FOXC1	2296	HP:0002025	Anal stenosis
OMIM:180500	FOXC1	2296	HP:0000668	Hypodontia
OMIM:180500	FOXC1	2296	HP:0004298	Abnormality of the abdominal wall
OMIM:180500	FOXC1	2296	HP:0000485	Megalocornea
OMIM:180500	FOXC1	2296	HP:0003828	Variable expressivity
OMIM:180500	FOXC1	2296	HP:0000627	Posterior embryotoxon
OMIM:180500	FOXC1	2296	HP:0000322	Short philtrum
OMIM:180500	FOXC1	2296	HP:0000336	Prominent supraorbital ridges
OMIM:180500	FOXC1	2296	HP:0000482	Microcornea
OMIM:180500	FOXC1	2296	HP:0000431	Wide nasal bridge
OMIM:180500	FOXC1	2296	HP:0000824	Growth hormone deficiency
OMIM:180500	FOXC1	2296	HP:0000486	Strabismus
OMIM:180500	PITX2	5308	HP:0002023	Anal atresia
OMIM:180500	PITX2	5308	HP:0000047	Hypospadias
OMIM:180500	PITX2	5308	HP:0000219	Thin upper lip vermilion
OMIM:180500	PITX2	5308	HP:0000501	Glaucoma
OMIM:180500	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:180500	PITX2	5308	HP:0000327	Hypoplasia of the maxilla
OMIM:180500	PITX2	5308	HP:0002025	Anal stenosis
OMIM:180500	PITX2	5308	HP:0000668	Hypodontia
OMIM:180500	PITX2	5308	HP:0004298	Abnormality of the abdominal wall
OMIM:180500	PITX2	5308	HP:0000485	Megalocornea
OMIM:180500	PITX2	5308	HP:0003828	Variable expressivity
OMIM:180500	PITX2	5308	HP:0000627	Posterior embryotoxon
OMIM:180500	PITX2	5308	HP:0000322	Short philtrum
OMIM:180500	PITX2	5308	HP:0000336	Prominent supraorbital ridges
OMIM:180500	PITX2	5308	HP:0000482	Microcornea
OMIM:180500	PITX2	5308	HP:0000431	Wide nasal bridge
OMIM:180500	PITX2	5308	HP:0000824	Growth hormone deficiency
OMIM:180500	PITX2	5308	HP:0000486	Strabismus
OMIM:181270	KCTD1	284252	HP:0000519	Congenital cataract
OMIM:181270	KCTD1	284252	HP:0000822	Hypertension
OMIM:181270	KCTD1	284252	HP:0000518	Cataract
OMIM:181270	KCTD1	284252	HP:0000303	Mandibular prognathia
OMIM:181270	KCTD1	284252	HP:0000286	Epicanthus
OMIM:181270	KCTD1	284252	HP:0012330	Pyelonephritis
OMIM:181270	KCTD1	284252	HP:0000612	Iris coloboma
OMIM:181270	KCTD1	284252	HP:0004691	2-3 toe syndactyly
OMIM:181270	KCTD1	284252	HP:0008070	Sparse hair
OMIM:181270	KCTD1	284252	HP:0002164	Nail dysplasia
OMIM:181270	KCTD1	284252	HP:0000104	Renal agenesis
OMIM:181270	KCTD1	284252	HP:0000818	Abnormality of the endocrine system
OMIM:181270	KCTD1	284252	HP:0001231	Abnormality of the fingernails
OMIM:181270	KCTD1	284252	HP:0000684	Delayed eruption of teeth
OMIM:181270	KCTD1	284252	HP:0000069	Abnormality of the ureter
OMIM:181270	KCTD1	284252	HP:0000966	Hypohidrosis
OMIM:181270	KCTD1	284252	HP:0000089	Renal hypoplasia
OMIM:181270	KCTD1	284252	HP:0009738	Abnormality of the antihelix
OMIM:181270	KCTD1	284252	HP:0000378	Cupped ear
OMIM:181270	KCTD1	284252	HP:0000463	Anteverted nares
OMIM:181270	KCTD1	284252	HP:0011362	Abnormal hair quantity
OMIM:181270	KCTD1	284252	HP:0008551	Microtia
OMIM:181270	KCTD1	284252	HP:0000369	Low-set ears
OMIM:181270	KCTD1	284252	HP:0000077	Abnormality of the kidney
OMIM:181270	KCTD1	284252	HP:0000010	Recurrent urinary tract infections
OMIM:181270	KCTD1	284252	HP:0000506	Telecanthus
OMIM:181270	KCTD1	284252	HP:0000765	Abnormality of the thorax
OMIM:181270	KCTD1	284252	HP:0006349	Agenesis of permanent teeth
OMIM:181270	KCTD1	284252	HP:0000411	Protruding ear
OMIM:181270	KCTD1	284252	HP:0000581	Blepharophimosis
OMIM:181270	KCTD1	284252	HP:0000601	Hypotelorism
OMIM:181270	KCTD1	284252	HP:0000625	Cleft eyelid
OMIM:181270	KCTD1	284252	HP:0000006	Autosomal dominant inheritance
OMIM:181270	KCTD1	284252	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:181270	KCTD1	284252	HP:0000083	Renal insufficiency
OMIM:181270	KCTD1	284252	HP:0005280	Depressed nasal bridge
OMIM:181270	KCTD1	284252	HP:0006709	Aplasia/Hypoplasia of the nipples
OMIM:613488	DDIT3	1649	HP:0100242	Sarcoma
OMIM:613488	DDIT3	1649	HP:0100526	Neoplasm of the lung
OMIM:613488	DDIT3	1649	HP:0000079	Abnormality of the urinary system
OMIM:613488	DDIT3	1649	HP:0000951	Abnormality of the skin
OMIM:613488	DDIT3	1649	HP:0001428	Somatic mutation
OMIM:613488	DDIT3	1649	HP:0002027	Abdominal pain
OMIM:613488	DDIT3	1649	HP:0002242	Abnormality of the intestine
OMIM:613488	FUS	2521	HP:0100242	Sarcoma
OMIM:613488	FUS	2521	HP:0100526	Neoplasm of the lung
OMIM:613488	FUS	2521	HP:0000079	Abnormality of the urinary system
OMIM:613488	FUS	2521	HP:0000951	Abnormality of the skin
OMIM:613488	FUS	2521	HP:0001428	Somatic mutation
OMIM:613488	FUS	2521	HP:0002027	Abdominal pain
OMIM:613488	FUS	2521	HP:0002242	Abnormality of the intestine
OMIM:158810	COL12A1	1303	HP:0000007	Autosomal recessive inheritance
OMIM:158810	COL12A1	1303	HP:0100490	Camptodactyly of finger
OMIM:158810	COL12A1	1303	HP:0003236	Elevated serum creatine phosphokinase
OMIM:158810	COL12A1	1303	HP:0000006	Autosomal dominant inheritance
OMIM:158810	COL12A1	1303	HP:0003198	Myopathy
OMIM:158810	COL12A1	1303	HP:0000473	Torticollis
OMIM:158810	COL12A1	1303	HP:0003828	Variable expressivity
OMIM:158810	COL12A1	1303	HP:0003325	Limb-girdle muscle weakness
OMIM:158810	COL12A1	1303	HP:0003677	Slow progression
OMIM:158810	COL12A1	1303	HP:0002460	Distal muscle weakness
OMIM:158810	COL12A1	1303	HP:0001558	Decreased fetal movement
OMIM:158810	COL12A1	1303	HP:0002987	Elbow flexion contracture
OMIM:158810	COL12A1	1303	HP:0006466	Ankle contracture
OMIM:158810	COL12A1	1303	HP:0001319	Neonatal hypotonia
OMIM:158810	COL12A1	1303	HP:0001626	Abnormality of the cardiovascular system
OMIM:158810	COL12A1	1303	HP:0003701	Proximal muscle weakness
OMIM:158810	COL12A1	1303	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:158810	COL12A1	1303	HP:0001270	Motor delay
OMIM:158810	COL6A1	1291	HP:0000007	Autosomal recessive inheritance
OMIM:158810	COL6A1	1291	HP:0100490	Camptodactyly of finger
OMIM:158810	COL6A1	1291	HP:0003236	Elevated serum creatine phosphokinase
OMIM:158810	COL6A1	1291	HP:0000006	Autosomal dominant inheritance
OMIM:158810	COL6A1	1291	HP:0003198	Myopathy
OMIM:158810	COL6A1	1291	HP:0000473	Torticollis
OMIM:158810	COL6A1	1291	HP:0003828	Variable expressivity
OMIM:158810	COL6A1	1291	HP:0003325	Limb-girdle muscle weakness
OMIM:158810	COL6A1	1291	HP:0003677	Slow progression
OMIM:158810	COL6A1	1291	HP:0002460	Distal muscle weakness
OMIM:158810	COL6A1	1291	HP:0001558	Decreased fetal movement
OMIM:158810	COL6A1	1291	HP:0002987	Elbow flexion contracture
OMIM:158810	COL6A1	1291	HP:0006466	Ankle contracture
OMIM:158810	COL6A1	1291	HP:0001319	Neonatal hypotonia
OMIM:158810	COL6A1	1291	HP:0001626	Abnormality of the cardiovascular system
OMIM:158810	COL6A1	1291	HP:0003701	Proximal muscle weakness
OMIM:158810	COL6A1	1291	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:158810	COL6A1	1291	HP:0001270	Motor delay
OMIM:158810	COL6A2	1292	HP:0000007	Autosomal recessive inheritance
OMIM:158810	COL6A2	1292	HP:0100490	Camptodactyly of finger
OMIM:158810	COL6A2	1292	HP:0003236	Elevated serum creatine phosphokinase
OMIM:158810	COL6A2	1292	HP:0000006	Autosomal dominant inheritance
OMIM:158810	COL6A2	1292	HP:0003198	Myopathy
OMIM:158810	COL6A2	1292	HP:0000473	Torticollis
OMIM:158810	COL6A2	1292	HP:0003828	Variable expressivity
OMIM:158810	COL6A2	1292	HP:0003325	Limb-girdle muscle weakness
OMIM:158810	COL6A2	1292	HP:0003677	Slow progression
OMIM:158810	COL6A2	1292	HP:0002460	Distal muscle weakness
OMIM:158810	COL6A2	1292	HP:0001558	Decreased fetal movement
OMIM:158810	COL6A2	1292	HP:0002987	Elbow flexion contracture
OMIM:158810	COL6A2	1292	HP:0006466	Ankle contracture
OMIM:158810	COL6A2	1292	HP:0001319	Neonatal hypotonia
OMIM:158810	COL6A2	1292	HP:0001626	Abnormality of the cardiovascular system
OMIM:158810	COL6A2	1292	HP:0003701	Proximal muscle weakness
OMIM:158810	COL6A2	1292	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:158810	COL6A2	1292	HP:0001270	Motor delay
OMIM:158810	COL6A3	1293	HP:0000007	Autosomal recessive inheritance
OMIM:158810	COL6A3	1293	HP:0100490	Camptodactyly of finger
OMIM:158810	COL6A3	1293	HP:0003236	Elevated serum creatine phosphokinase
OMIM:158810	COL6A3	1293	HP:0000006	Autosomal dominant inheritance
OMIM:158810	COL6A3	1293	HP:0003198	Myopathy
OMIM:158810	COL6A3	1293	HP:0000473	Torticollis
OMIM:158810	COL6A3	1293	HP:0003828	Variable expressivity
OMIM:158810	COL6A3	1293	HP:0003325	Limb-girdle muscle weakness
OMIM:158810	COL6A3	1293	HP:0003677	Slow progression
OMIM:158810	COL6A3	1293	HP:0002460	Distal muscle weakness
OMIM:158810	COL6A3	1293	HP:0001558	Decreased fetal movement
OMIM:158810	COL6A3	1293	HP:0002987	Elbow flexion contracture
OMIM:158810	COL6A3	1293	HP:0006466	Ankle contracture
OMIM:158810	COL6A3	1293	HP:0001319	Neonatal hypotonia
OMIM:158810	COL6A3	1293	HP:0001626	Abnormality of the cardiovascular system
OMIM:158810	COL6A3	1293	HP:0003701	Proximal muscle weakness
OMIM:158810	COL6A3	1293	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:158810	COL6A3	1293	HP:0001270	Motor delay
OMIM:184252	TRPV4	59341	HP:0001156	Brachydactyly syndrome
OMIM:184252	TRPV4	59341	HP:0005280	Depressed nasal bridge
OMIM:184252	TRPV4	59341	HP:0003311	Hypoplasia of the odontoid process
OMIM:184252	TRPV4	59341	HP:0000271	Abnormality of the face
OMIM:184252	TRPV4	59341	HP:0000768	Pectus carinatum
OMIM:184252	TRPV4	59341	HP:0002650	Scoliosis
OMIM:184252	TRPV4	59341	HP:0005930	Abnormality of epiphysis morphology
OMIM:184252	TRPV4	59341	HP:0000470	Short neck
OMIM:184252	TRPV4	59341	HP:0001547	Abnormality of the rib cage
OMIM:184252	TRPV4	59341	HP:0010306	Short thorax
OMIM:184252	TRPV4	59341	HP:0000774	Narrow chest
OMIM:184252	TRPV4	59341	HP:0000889	Abnormality of the clavicle
OMIM:184252	TRPV4	59341	HP:0002515	Waddling gait
OMIM:184252	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:184252	TRPV4	59341	HP:0000944	Abnormality of the metaphyses
OMIM:184252	TRPV4	59341	HP:0001760	Abnormality of the foot
OMIM:184252	TRPV4	59341	HP:0002812	Coxa vara
OMIM:184252	TRPV4	59341	HP:0003521	Disproportionate short-trunk short stature
OMIM:184252	TRPV4	59341	HP:0003015	Flared metaphysis
OMIM:184252	TRPV4	59341	HP:0002857	Genu valgum
OMIM:184252	TRPV4	59341	HP:0002808	Kyphosis
OMIM:184252	TRPV4	59341	HP:0000348	High forehead
OMIM:184252	TRPV4	59341	HP:0002750	Delayed skeletal maturation
OMIM:184252	TRPV4	59341	HP:0002751	Kyphoscoliosis
OMIM:184252	TRPV4	59341	HP:0001288	Gait disturbance
OMIM:184252	TRPV4	59341	HP:0001498	Carpal bone hypoplasia
OMIM:184252	TRPV4	59341	HP:0000926	Platyspondyly
OMIM:184252	TRPV4	59341	HP:0001376	Limitation of joint mobility
OMIM:184252	TRPV4	59341	HP:0002657	Spondylometaphyseal dysplasia
OMIM:184252	TRPV4	59341	HP:0004322	Short stature
OMIM:300584	IKBKG	8517	HP:0004315	IgG deficiency
OMIM:300584	IKBKG	8517	HP:0001419	X-linked recessive inheritance
OMIM:300584	IKBKG	8517	HP:0002721	Immunodeficiency
OMIM:602782	SLC29A3	55315	HP:0012385	Camptodactyly
OMIM:602782	SLC29A3	55315	HP:0000824	Growth hormone deficiency
OMIM:602782	SLC29A3	55315	HP:0001640	Cardiomegaly
OMIM:602782	SLC29A3	55315	HP:0001634	Mitral valve prolapse
OMIM:602782	SLC29A3	55315	HP:0001945	Fever
OMIM:602782	SLC29A3	55315	HP:0000819	Diabetes mellitus
OMIM:602782	SLC29A3	55315	HP:0002987	Elbow flexion contracture
OMIM:602782	SLC29A3	55315	HP:0000815	Hypergonadotropic hypogonadism
OMIM:602782	SLC29A3	55315	HP:0002240	Hepatomegaly
OMIM:602782	SLC29A3	55315	HP:0000007	Autosomal recessive inheritance
OMIM:602782	SLC29A3	55315	HP:0003812	Phenotypic variability
OMIM:602782	SLC29A3	55315	HP:0000520	Proptosis
OMIM:602782	SLC29A3	55315	HP:0001631	Atria septal defect
OMIM:602782	SLC29A3	55315	HP:0004322	Short stature
OMIM:602782	SLC29A3	55315	HP:0001744	Splenomegaly
OMIM:602782	SLC29A3	55315	HP:0000407	Sensorineural hearing impairment
OMIM:602782	SLC29A3	55315	HP:0030084	Clinodactyly
OMIM:602782	SLC29A3	55315	HP:0002716	Lymphadenopathy
OMIM:602782	SLC29A3	55315	HP:0001629	Ventricular septal defect
OMIM:602782	SLC29A3	55315	HP:0001822	Hallux valgus
OMIM:612718	GATM	2628	HP:0003593	Infantile onset
OMIM:612718	GATM	2628	HP:0000750	Delayed speech and language development
OMIM:612718	GATM	2628	HP:0001263	Global developmental delay
OMIM:612718	GATM	2628	HP:0003391	Gowers sign
OMIM:612718	GATM	2628	HP:0001508	Failure to thrive
OMIM:612718	GATM	2628	HP:0001992	Organic aciduria
OMIM:612718	GATM	2628	HP:0000007	Autosomal recessive inheritance
OMIM:612718	GATM	2628	HP:0000717	Autism
OMIM:612718	GATM	2628	HP:0001249	Intellectual disability
OMIM:615271	PROK2	60675	HP:0000365	Hearing impairment
OMIM:615271	PROK2	60675	HP:0000938	Osteopenia
OMIM:615271	PROK2	60675	HP:0000939	Osteoporosis
OMIM:615271	PROKR2	128674	HP:0000365	Hearing impairment
OMIM:615271	PROKR2	128674	HP:0000938	Osteopenia
OMIM:615271	PROKR2	128674	HP:0000939	Osteoporosis
OMIM:615271	SEMA3A	10371	HP:0000365	Hearing impairment
OMIM:615271	SEMA3A	10371	HP:0000938	Osteopenia
OMIM:615271	SEMA3A	10371	HP:0000939	Osteoporosis
OMIM:615271	IL17RD	54756	HP:0000365	Hearing impairment
OMIM:615271	IL17RD	54756	HP:0000938	Osteopenia
OMIM:615271	IL17RD	54756	HP:0000939	Osteoporosis
OMIM:615271	WDR11	55717	HP:0000365	Hearing impairment
OMIM:615271	WDR11	55717	HP:0000938	Osteopenia
OMIM:615271	WDR11	55717	HP:0000939	Osteoporosis
OMIM:615271	SOX10	6663	HP:0000365	Hearing impairment
OMIM:615271	SOX10	6663	HP:0000938	Osteopenia
OMIM:615271	SOX10	6663	HP:0000939	Osteoporosis
OMIM:615271	FEZF1	389549	HP:0000365	Hearing impairment
OMIM:615271	FEZF1	389549	HP:0000938	Osteopenia
OMIM:615271	FEZF1	389549	HP:0000939	Osteoporosis
OMIM:615271	FGF8	2253	HP:0000365	Hearing impairment
OMIM:615271	FGF8	2253	HP:0000938	Osteopenia
OMIM:615271	FGF8	2253	HP:0000939	Osteoporosis
OMIM:615271	ANOS1	3730	HP:0000365	Hearing impairment
OMIM:615271	ANOS1	3730	HP:0000938	Osteopenia
OMIM:615271	ANOS1	3730	HP:0000939	Osteoporosis
OMIM:615271	HS6ST1	9394	HP:0000365	Hearing impairment
OMIM:615271	HS6ST1	9394	HP:0000938	Osteopenia
OMIM:615271	HS6ST1	9394	HP:0000939	Osteoporosis
OMIM:615271	CHD7	55636	HP:0000365	Hearing impairment
OMIM:615271	CHD7	55636	HP:0000938	Osteopenia
OMIM:615271	CHD7	55636	HP:0000939	Osteoporosis
OMIM:615271	FGFR1	2260	HP:0000365	Hearing impairment
OMIM:615271	FGFR1	2260	HP:0000938	Osteopenia
OMIM:615271	FGFR1	2260	HP:0000939	Osteoporosis
OMIM:615271	HESX1	8820	HP:0000365	Hearing impairment
OMIM:615271	HESX1	8820	HP:0000938	Osteopenia
OMIM:615271	HESX1	8820	HP:0000939	Osteoporosis
OMIM:615271	TACR3	6870	HP:0000365	Hearing impairment
OMIM:615271	TACR3	6870	HP:0000938	Osteopenia
OMIM:615271	TACR3	6870	HP:0000939	Osteoporosis
OMIM:615271	FGF17	8822	HP:0000365	Hearing impairment
OMIM:615271	FGF17	8822	HP:0000938	Osteopenia
OMIM:615271	FGF17	8822	HP:0000939	Osteoporosis
OMIM:615271	FLRT3	23767	HP:0000365	Hearing impairment
OMIM:615271	FLRT3	23767	HP:0000938	Osteopenia
OMIM:615271	FLRT3	23767	HP:0000939	Osteoporosis
OMIM:615271	DUSP6	1848	HP:0000365	Hearing impairment
OMIM:615271	DUSP6	1848	HP:0000938	Osteopenia
OMIM:615271	DUSP6	1848	HP:0000939	Osteoporosis
OMIM:615271	SPRY4	81848	HP:0000365	Hearing impairment
OMIM:615271	SPRY4	81848	HP:0000938	Osteopenia
OMIM:615271	SPRY4	81848	HP:0000939	Osteoporosis
OMIM:615271	KISS1R	84634	HP:0000365	Hearing impairment
OMIM:615271	KISS1R	84634	HP:0000938	Osteopenia
OMIM:615271	KISS1R	84634	HP:0000939	Osteoporosis
OMIM:615271	NSMF	26012	HP:0000365	Hearing impairment
OMIM:615271	NSMF	26012	HP:0000938	Osteopenia
OMIM:615271	NSMF	26012	HP:0000939	Osteoporosis
OMIM:150230	EXT1	2131	HP:0000076	Vesicoureteral reflux
OMIM:150230	EXT1	2131	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:150230	EXT1	2131	HP:0001252	Muscular hypotonia
OMIM:150230	EXT1	2131	HP:0001382	Joint hypermobility
OMIM:150230	EXT1	2131	HP:0000252	Microcephaly
OMIM:150230	EXT1	2131	HP:0000400	Macrotia
OMIM:150230	EXT1	2131	HP:0001883	Talipes
OMIM:150230	EXT1	2131	HP:0005105	Abnormal nasal morphology
OMIM:150230	EXT1	2131	HP:0000343	Long philtrum
OMIM:150230	EXT1	2131	HP:0002823	Abnormality of the femur
OMIM:150230	EXT1	2131	HP:0010579	Cone-shaped epiphysis
OMIM:150230	EXT1	2131	HP:0002650	Scoliosis
OMIM:150230	EXT1	2131	HP:0001159	Syndactyly
OMIM:150230	EXT1	2131	HP:0001249	Intellectual disability
OMIM:150230	EXT1	2131	HP:0002119	Ventriculomegaly
OMIM:150230	EXT1	2131	HP:0002857	Genu valgum
OMIM:150230	EXT1	2131	HP:0100777	Exostoses
OMIM:150230	EXT1	2131	HP:0002750	Delayed skeletal maturation
OMIM:150230	EXT1	2131	HP:0000368	Low-set, posteriorly rotated ears
OMIM:150230	EXT1	2131	HP:0000377	Abnormality of the pinna
OMIM:150230	EXT1	2131	HP:0003272	Abnormality of the hip bone
OMIM:150230	EXT1	2131	HP:0011362	Abnormal hair quantity
OMIM:150230	EXT1	2131	HP:0000973	Cutis laxa
OMIM:150230	EXT1	2131	HP:0000347	Micrognathia
OMIM:150230	EXT1	2131	HP:0000431	Wide nasal bridge
OMIM:150230	EXT1	2131	HP:0001373	Joint dislocation
OMIM:150230	EXT1	2131	HP:0000414	Bulbous nose
OMIM:150230	EXT1	2131	HP:0000574	Thick eyebrow
OMIM:150230	EXT1	2131	HP:0004322	Short stature
OMIM:150230	EXT1	2131	HP:0000405	Conductive hearing impairment
OMIM:150230	EXT1	2131	HP:0000365	Hearing impairment
OMIM:150230	EXT1	2131	HP:0000006	Autosomal dominant inheritance
OMIM:150230	EXT1	2131	HP:0000954	Single transverse palmar crease
OMIM:150230	EXT1	2131	HP:0100543	Cognitive impairment
OMIM:150230	EXT1	2131	HP:0000233	Thin vermilion border
OMIM:150230	EXT1	2131	HP:0000750	Delayed speech and language development
OMIM:150230	EXT1	2131	HP:0002653	Bone pain
OMIM:150230	EXT1	2131	HP:0000429	Abnormality of the nasal alae
OMIM:150230	EXT1	2131	HP:0002209	Sparse scalp hair
OMIM:150230	EXT1	2131	HP:0003691	Scapular winging
OMIM:150230	EXT1	2131	HP:0000174	Abnormality of the palate
OMIM:150230	EXT1	2131	HP:0002788	Recurrent upper respiratory tract infections
OMIM:150230	EXT1	2131	HP:0000010	Recurrent urinary tract infections
OMIM:150230	EXT1	2131	HP:0003764	Nevus
OMIM:150230	EXT1	2131	HP:0000490	Deeply set eye
OMIM:150230	EXT1	2131	HP:0000577	Exotropia
OMIM:150230	EXT1	2131	HP:0001156	Brachydactyly syndrome
OMIM:150230	TRPS1	7227	HP:0000076	Vesicoureteral reflux
OMIM:150230	TRPS1	7227	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:150230	TRPS1	7227	HP:0001252	Muscular hypotonia
OMIM:150230	TRPS1	7227	HP:0001382	Joint hypermobility
OMIM:150230	TRPS1	7227	HP:0000252	Microcephaly
OMIM:150230	TRPS1	7227	HP:0000400	Macrotia
OMIM:150230	TRPS1	7227	HP:0001883	Talipes
OMIM:150230	TRPS1	7227	HP:0005105	Abnormal nasal morphology
OMIM:150230	TRPS1	7227	HP:0000343	Long philtrum
OMIM:150230	TRPS1	7227	HP:0002823	Abnormality of the femur
OMIM:150230	TRPS1	7227	HP:0010579	Cone-shaped epiphysis
OMIM:150230	TRPS1	7227	HP:0002650	Scoliosis
OMIM:150230	TRPS1	7227	HP:0001159	Syndactyly
OMIM:150230	TRPS1	7227	HP:0001249	Intellectual disability
OMIM:150230	TRPS1	7227	HP:0002119	Ventriculomegaly
OMIM:150230	TRPS1	7227	HP:0002857	Genu valgum
OMIM:150230	TRPS1	7227	HP:0100777	Exostoses
OMIM:150230	TRPS1	7227	HP:0002750	Delayed skeletal maturation
OMIM:150230	TRPS1	7227	HP:0000368	Low-set, posteriorly rotated ears
OMIM:150230	TRPS1	7227	HP:0000377	Abnormality of the pinna
OMIM:150230	TRPS1	7227	HP:0003272	Abnormality of the hip bone
OMIM:150230	TRPS1	7227	HP:0011362	Abnormal hair quantity
OMIM:150230	TRPS1	7227	HP:0000973	Cutis laxa
OMIM:150230	TRPS1	7227	HP:0000347	Micrognathia
OMIM:150230	TRPS1	7227	HP:0000431	Wide nasal bridge
OMIM:150230	TRPS1	7227	HP:0001373	Joint dislocation
OMIM:150230	TRPS1	7227	HP:0000414	Bulbous nose
OMIM:150230	TRPS1	7227	HP:0000574	Thick eyebrow
OMIM:150230	TRPS1	7227	HP:0004322	Short stature
OMIM:150230	TRPS1	7227	HP:0000405	Conductive hearing impairment
OMIM:150230	TRPS1	7227	HP:0000365	Hearing impairment
OMIM:150230	TRPS1	7227	HP:0000006	Autosomal dominant inheritance
OMIM:150230	TRPS1	7227	HP:0000954	Single transverse palmar crease
OMIM:150230	TRPS1	7227	HP:0100543	Cognitive impairment
OMIM:150230	TRPS1	7227	HP:0000233	Thin vermilion border
OMIM:150230	TRPS1	7227	HP:0000750	Delayed speech and language development
OMIM:150230	TRPS1	7227	HP:0002653	Bone pain
OMIM:150230	TRPS1	7227	HP:0000429	Abnormality of the nasal alae
OMIM:150230	TRPS1	7227	HP:0002209	Sparse scalp hair
OMIM:150230	TRPS1	7227	HP:0003691	Scapular winging
OMIM:150230	TRPS1	7227	HP:0000174	Abnormality of the palate
OMIM:150230	TRPS1	7227	HP:0002788	Recurrent upper respiratory tract infections
OMIM:150230	TRPS1	7227	HP:0000010	Recurrent urinary tract infections
OMIM:150230	TRPS1	7227	HP:0003764	Nevus
OMIM:150230	TRPS1	7227	HP:0000490	Deeply set eye
OMIM:150230	TRPS1	7227	HP:0000577	Exotropia
OMIM:150230	TRPS1	7227	HP:0001156	Brachydactyly syndrome
OMIM:243800	UBR1	197131	HP:0000047	Hypospadias
OMIM:243800	UBR1	197131	HP:0003819	Death in childhood
OMIM:243800	UBR1	197131	HP:0006349	Agenesis of permanent teeth
OMIM:243800	UBR1	197131	HP:0000252	Microcephaly
OMIM:243800	UBR1	197131	HP:0001903	Anemia
OMIM:243800	UBR1	197131	HP:0000057	Clitoromegaly
OMIM:243800	UBR1	197131	HP:0100589	Urogenital fistula
OMIM:243800	UBR1	197131	HP:0001696	Situs inversus totalis
OMIM:243800	UBR1	197131	HP:0000821	Hypothyroidism
OMIM:243800	UBR1	197131	HP:0002253	Colonic diverticula
OMIM:243800	UBR1	197131	HP:0000054	Micropenis
OMIM:243800	UBR1	197131	HP:0001249	Intellectual disability
OMIM:243800	UBR1	197131	HP:0000007	Autosomal recessive inheritance
OMIM:243800	UBR1	197131	HP:0001399	Hepatic failure
OMIM:243800	UBR1	197131	HP:0002557	Hypoplastic nipples
OMIM:243800	UBR1	197131	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:243800	UBR1	197131	HP:0002209	Sparse scalp hair
OMIM:243800	UBR1	197131	HP:0000819	Diabetes mellitus
OMIM:243800	UBR1	197131	HP:0000691	Microdontia
OMIM:243800	UBR1	197131	HP:0004322	Short stature
OMIM:243800	UBR1	197131	HP:0000957	Cafe-au-lait spot
OMIM:243800	UBR1	197131	HP:0100543	Cognitive impairment
OMIM:243800	UBR1	197131	HP:0002901	Hypocalcemia
OMIM:243800	UBR1	197131	HP:0003196	Short nose
OMIM:243800	UBR1	197131	HP:0009804	Reduced number of teeth
OMIM:243800	UBR1	197131	HP:0000486	Strabismus
OMIM:243800	UBR1	197131	HP:0001396	Cholestasis
OMIM:243800	UBR1	197131	HP:0000430	Underdeveloped nasal alae
OMIM:243800	UBR1	197131	HP:0001631	Atria septal defect
OMIM:243800	UBR1	197131	HP:0010935	Abnormality of the upper urinary tract
OMIM:243800	UBR1	197131	HP:0007385	Aplasia cutis congenita of scalp
OMIM:243800	UBR1	197131	HP:0001252	Muscular hypotonia
OMIM:243800	UBR1	197131	HP:0005288	Abnormality of the nares
OMIM:243800	UBR1	197131	HP:0001511	Intrauterine growth retardation
OMIM:243800	UBR1	197131	HP:0001629	Ventricular septal defect
OMIM:243800	UBR1	197131	HP:0000632	Lacrimation abnormality
OMIM:243800	UBR1	197131	HP:0001644	Dilated cardiomyopathy
OMIM:243800	UBR1	197131	HP:0002023	Anal atresia
OMIM:243800	UBR1	197131	HP:0001518	Small for gestational age
OMIM:243800	UBR1	197131	HP:0000954	Single transverse palmar crease
OMIM:243800	UBR1	197131	HP:0000407	Sensorineural hearing impairment
OMIM:243800	UBR1	197131	HP:0003075	Hypoproteinemia
OMIM:243800	UBR1	197131	HP:0000143	Rectovaginal fistula
OMIM:243800	UBR1	197131	HP:0004209	Clinodactyly of the 5th finger
OMIM:243800	UBR1	197131	HP:0002024	Malabsorption
OMIM:243800	UBR1	197131	HP:0001508	Failure to thrive
OMIM:243800	UBR1	197131	HP:0001597	Abnormality of the nail
OMIM:243800	UBR1	197131	HP:0000028	Cryptorchidism
OMIM:243800	UBR1	197131	HP:0000444	Convex nasal ridge
OMIM:243800	UBR1	197131	HP:0002750	Delayed skeletal maturation
OMIM:243800	UBR1	197131	HP:0008736	Hypoplasia of penis
OMIM:243800	UBR1	197131	HP:0000008	Abnormality of female internal genitalia
OMIM:243800	UBR1	197131	HP:0001388	Joint laxity
OMIM:243800	UBR1	197131	HP:0000684	Delayed eruption of teeth
OMIM:243800	UBR1	197131	HP:0001671	Abnormality of the cardiac septa
OMIM:243800	UBR1	197131	HP:0000126	Hydronephrosis
OMIM:243800	UBR1	197131	HP:0100627	Displacement of the external urethral meatus
OMIM:243800	UBR1	197131	HP:0001596	Alopecia
OMIM:600971	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:600971	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:600971	BSND	7809	HP:0000365	Hearing impairment
OMIM:600971	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:600971	ESPN	83715	HP:0000365	Hearing impairment
OMIM:600971	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:600971	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:600971	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:600971	OTOA	146183	HP:0000365	Hearing impairment
OMIM:600971	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:600971	GJA1	2697	HP:0000365	Hearing impairment
OMIM:600971	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:600971	MET	4233	HP:0000365	Hearing impairment
OMIM:600971	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:600971	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:600971	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:600971	HGF	3082	HP:0000365	Hearing impairment
OMIM:600971	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:600971	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:600971	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:600971	EPS8	2059	HP:0000365	Hearing impairment
OMIM:600971	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:600971	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:600971	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:600971	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:600971	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:600971	GJB2	2706	HP:0000365	Hearing impairment
OMIM:600971	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:600971	GJB3	2707	HP:0000365	Hearing impairment
OMIM:600971	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:600971	CABP2	51475	HP:0000365	Hearing impairment
OMIM:600971	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:600971	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:600971	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:600971	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:600971	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:600971	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:600971	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:600971	CIB2	10518	HP:0000365	Hearing impairment
OMIM:600971	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:600971	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:600971	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:600971	KARS	3735	HP:0000365	Hearing impairment
OMIM:600971	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:600971	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:600971	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:600971	TMC1	117531	HP:0000365	Hearing impairment
OMIM:600971	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:600971	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:600971	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:600971	OTOF	9381	HP:0000365	Hearing impairment
OMIM:600971	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:600971	MYO6	4646	HP:0000365	Hearing impairment
OMIM:600971	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:600971	TMIE	259236	HP:0000365	Hearing impairment
OMIM:600971	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:600971	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:600971	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:600971	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:600971	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:600971	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:600971	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:600971	TPRN	286262	HP:0000365	Hearing impairment
OMIM:600971	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:600971	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:600971	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:600971	GJB6	10804	HP:0000365	Hearing impairment
OMIM:600971	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:600971	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:600971	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:600971	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:600971	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:600971	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:600971	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:600971	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:600971	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:600971	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:600971	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:600971	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:600971	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:600971	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:600971	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:600971	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:600971	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:600971	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:600971	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:600971	CDH23	64072	HP:0000365	Hearing impairment
OMIM:600971	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:600971	RDX	5962	HP:0000365	Hearing impairment
OMIM:600971	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:600971	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:600971	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:600971	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:600971	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:600971	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:600971	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:600971	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:600971	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:600971	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:600971	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:600971	STRC	161497	HP:0000365	Hearing impairment
OMIM:600971	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:600971	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:600971	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:600971	TECTA	7007	HP:0000365	Hearing impairment
OMIM:600971	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:600971	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:600971	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:600971	USH1C	10083	HP:0000365	Hearing impairment
OMIM:600971	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:600971	ADCY1	107	HP:0000365	Hearing impairment
OMIM:600971	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:600971	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:600971	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:600971	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:600971	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:600971	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:600971	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:600971	OTOG	340990	HP:0000365	Hearing impairment
OMIM:600971	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:119900	HPGD	3248	HP:0001217	Clubbing
OMIM:119900	HPGD	3248	HP:0000006	Autosomal dominant inheritance
OMIM:300804	OFD1	8481	HP:0002419	Molar tooth sign on MRI
OMIM:300804	OFD1	8481	HP:0001510	Growth delay
OMIM:300804	OFD1	8481	HP:0008872	Feeding difficulties in infancy
OMIM:300804	OFD1	8481	HP:0000369	Low-set ears
OMIM:300804	OFD1	8481	HP:0001419	X-linked recessive inheritance
OMIM:300804	OFD1	8481	HP:0100259	Postaxial polydactyly
OMIM:300804	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:300804	OFD1	8481	HP:0001249	Intellectual disability
OMIM:300804	OFD1	8481	HP:0002719	Recurrent infections
OMIM:300804	OFD1	8481	HP:0000431	Wide nasal bridge
OMIM:300804	C5ORF42	65250	HP:0002419	Molar tooth sign on MRI
OMIM:300804	C5ORF42	65250	HP:0001510	Growth delay
OMIM:300804	C5ORF42	65250	HP:0008872	Feeding difficulties in infancy
OMIM:300804	C5ORF42	65250	HP:0000369	Low-set ears
OMIM:300804	C5ORF42	65250	HP:0001419	X-linked recessive inheritance
OMIM:300804	C5ORF42	65250	HP:0100259	Postaxial polydactyly
OMIM:300804	C5ORF42	65250	HP:0000510	Rod-cone dystrophy
OMIM:300804	C5ORF42	65250	HP:0001249	Intellectual disability
OMIM:300804	C5ORF42	65250	HP:0002719	Recurrent infections
OMIM:300804	C5ORF42	65250	HP:0000431	Wide nasal bridge
OMIM:300804	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
OMIM:300804	TMEM216	51259	HP:0001510	Growth delay
OMIM:300804	TMEM216	51259	HP:0008872	Feeding difficulties in infancy
OMIM:300804	TMEM216	51259	HP:0000369	Low-set ears
OMIM:300804	TMEM216	51259	HP:0001419	X-linked recessive inheritance
OMIM:300804	TMEM216	51259	HP:0100259	Postaxial polydactyly
OMIM:300804	TMEM216	51259	HP:0000510	Rod-cone dystrophy
OMIM:300804	TMEM216	51259	HP:0001249	Intellectual disability
OMIM:300804	TMEM216	51259	HP:0002719	Recurrent infections
OMIM:300804	TMEM216	51259	HP:0000431	Wide nasal bridge
OMIM:300804	KIF7	374654	HP:0002419	Molar tooth sign on MRI
OMIM:300804	KIF7	374654	HP:0001510	Growth delay
OMIM:300804	KIF7	374654	HP:0008872	Feeding difficulties in infancy
OMIM:300804	KIF7	374654	HP:0000369	Low-set ears
OMIM:300804	KIF7	374654	HP:0001419	X-linked recessive inheritance
OMIM:300804	KIF7	374654	HP:0100259	Postaxial polydactyly
OMIM:300804	KIF7	374654	HP:0000510	Rod-cone dystrophy
OMIM:300804	KIF7	374654	HP:0001249	Intellectual disability
OMIM:300804	KIF7	374654	HP:0002719	Recurrent infections
OMIM:300804	KIF7	374654	HP:0000431	Wide nasal bridge
OMIM:300804	TCTN3	26123	HP:0002419	Molar tooth sign on MRI
OMIM:300804	TCTN3	26123	HP:0001510	Growth delay
OMIM:300804	TCTN3	26123	HP:0008872	Feeding difficulties in infancy
OMIM:300804	TCTN3	26123	HP:0000369	Low-set ears
OMIM:300804	TCTN3	26123	HP:0001419	X-linked recessive inheritance
OMIM:300804	TCTN3	26123	HP:0100259	Postaxial polydactyly
OMIM:300804	TCTN3	26123	HP:0000510	Rod-cone dystrophy
OMIM:300804	TCTN3	26123	HP:0001249	Intellectual disability
OMIM:300804	TCTN3	26123	HP:0002719	Recurrent infections
OMIM:300804	TCTN3	26123	HP:0000431	Wide nasal bridge
OMIM:300804	PDE6D	5147	HP:0002419	Molar tooth sign on MRI
OMIM:300804	PDE6D	5147	HP:0001510	Growth delay
OMIM:300804	PDE6D	5147	HP:0008872	Feeding difficulties in infancy
OMIM:300804	PDE6D	5147	HP:0000369	Low-set ears
OMIM:300804	PDE6D	5147	HP:0001419	X-linked recessive inheritance
OMIM:300804	PDE6D	5147	HP:0100259	Postaxial polydactyly
OMIM:300804	PDE6D	5147	HP:0000510	Rod-cone dystrophy
OMIM:300804	PDE6D	5147	HP:0001249	Intellectual disability
OMIM:300804	PDE6D	5147	HP:0002719	Recurrent infections
OMIM:300804	PDE6D	5147	HP:0000431	Wide nasal bridge
OMIM:613495	CD19	930	HP:0004313	Decreased antibody level in blood
OMIM:613495	CD19	930	HP:0002205	Recurrent respiratory infections
OMIM:613495	CD19	930	HP:0002718	Recurrent bacterial infections
OMIM:613495	CD19	930	HP:0002721	Immunodeficiency
OMIM:613495	CD19	930	HP:0000007	Autosomal recessive inheritance
OMIM:613495	MS4A1	931	HP:0004313	Decreased antibody level in blood
OMIM:613495	MS4A1	931	HP:0002205	Recurrent respiratory infections
OMIM:613495	MS4A1	931	HP:0002718	Recurrent bacterial infections
OMIM:613495	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:613495	MS4A1	931	HP:0000007	Autosomal recessive inheritance
OMIM:613495	TNFRSF13C	115650	HP:0004313	Decreased antibody level in blood
OMIM:613495	TNFRSF13C	115650	HP:0002205	Recurrent respiratory infections
OMIM:613495	TNFRSF13C	115650	HP:0002718	Recurrent bacterial infections
OMIM:613495	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:613495	TNFRSF13C	115650	HP:0000007	Autosomal recessive inheritance
OMIM:613495	CR2	1380	HP:0004313	Decreased antibody level in blood
OMIM:613495	CR2	1380	HP:0002205	Recurrent respiratory infections
OMIM:613495	CR2	1380	HP:0002718	Recurrent bacterial infections
OMIM:613495	CR2	1380	HP:0002721	Immunodeficiency
OMIM:613495	CR2	1380	HP:0000007	Autosomal recessive inheritance
OMIM:613495	TNFSF12	8742	HP:0004313	Decreased antibody level in blood
OMIM:613495	TNFSF12	8742	HP:0002205	Recurrent respiratory infections
OMIM:613495	TNFSF12	8742	HP:0002718	Recurrent bacterial infections
OMIM:613495	TNFSF12	8742	HP:0002721	Immunodeficiency
OMIM:613495	TNFSF12	8742	HP:0000007	Autosomal recessive inheritance
OMIM:613495	NFKB1	4790	HP:0004313	Decreased antibody level in blood
OMIM:613495	NFKB1	4790	HP:0002205	Recurrent respiratory infections
OMIM:613495	NFKB1	4790	HP:0002718	Recurrent bacterial infections
OMIM:613495	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:613495	NFKB1	4790	HP:0000007	Autosomal recessive inheritance
OMIM:613495	TNFRSF13B	23495	HP:0004313	Decreased antibody level in blood
OMIM:613495	TNFRSF13B	23495	HP:0002205	Recurrent respiratory infections
OMIM:613495	TNFRSF13B	23495	HP:0002718	Recurrent bacterial infections
OMIM:613495	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:613495	TNFRSF13B	23495	HP:0000007	Autosomal recessive inheritance
OMIM:613495	NFKB2	4791	HP:0004313	Decreased antibody level in blood
OMIM:613495	NFKB2	4791	HP:0002205	Recurrent respiratory infections
OMIM:613495	NFKB2	4791	HP:0002718	Recurrent bacterial infections
OMIM:613495	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:613495	NFKB2	4791	HP:0000007	Autosomal recessive inheritance
OMIM:613495	ICOS	29851	HP:0004313	Decreased antibody level in blood
OMIM:613495	ICOS	29851	HP:0002205	Recurrent respiratory infections
OMIM:613495	ICOS	29851	HP:0002718	Recurrent bacterial infections
OMIM:613495	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:613495	ICOS	29851	HP:0000007	Autosomal recessive inheritance
OMIM:613495	LRBA	987	HP:0004313	Decreased antibody level in blood
OMIM:613495	LRBA	987	HP:0002205	Recurrent respiratory infections
OMIM:613495	LRBA	987	HP:0002718	Recurrent bacterial infections
OMIM:613495	LRBA	987	HP:0002721	Immunodeficiency
OMIM:613495	LRBA	987	HP:0000007	Autosomal recessive inheritance
OMIM:613495	PRKCD	5580	HP:0004313	Decreased antibody level in blood
OMIM:613495	PRKCD	5580	HP:0002205	Recurrent respiratory infections
OMIM:613495	PRKCD	5580	HP:0002718	Recurrent bacterial infections
OMIM:613495	PRKCD	5580	HP:0002721	Immunodeficiency
OMIM:613495	PRKCD	5580	HP:0000007	Autosomal recessive inheritance
OMIM:613495	CD81	975	HP:0004313	Decreased antibody level in blood
OMIM:613495	CD81	975	HP:0002205	Recurrent respiratory infections
OMIM:613495	CD81	975	HP:0002718	Recurrent bacterial infections
OMIM:613495	CD81	975	HP:0002721	Immunodeficiency
OMIM:613495	CD81	975	HP:0000007	Autosomal recessive inheritance
OMIM:613309	TSR2	90121	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	TSR2	90121	HP:0000358	Posteriorly rotated ears
OMIM:613309	TSR2	90121	HP:0000453	Choanal atresia
OMIM:613309	TSR2	90121	HP:0001643	Patent ductus arteriosus
OMIM:613309	TSR2	90121	HP:0001972	Macrocytic anemia
OMIM:613309	TSR2	90121	HP:0000369	Low-set ears
OMIM:613309	TSR2	90121	HP:0008551	Microtia
OMIM:613309	TSR2	90121	HP:0001629	Ventricular septal defect
OMIM:613309	TSR2	90121	HP:0000175	Cleft palate
OMIM:613309	TSR2	90121	HP:0000086	Ectopic kidney
OMIM:613309	TSR2	90121	HP:0004322	Short stature
OMIM:613309	TSR2	90121	HP:0000405	Conductive hearing impairment
OMIM:613309	TSR2	90121	HP:0000347	Micrognathia
OMIM:613309	TSR2	90121	HP:0002880	Respiratory difficulties
OMIM:613309	TSR2	90121	HP:0001896	Reticulocytopenia
OMIM:613309	TSR2	90121	HP:0000272	Malar flattening
OMIM:613309	TSR2	90121	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPS17	6218	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPS17	6218	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPS17	6218	HP:0000453	Choanal atresia
OMIM:613309	RPS17	6218	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPS17	6218	HP:0001972	Macrocytic anemia
OMIM:613309	RPS17	6218	HP:0000369	Low-set ears
OMIM:613309	RPS17	6218	HP:0008551	Microtia
OMIM:613309	RPS17	6218	HP:0001629	Ventricular septal defect
OMIM:613309	RPS17	6218	HP:0000175	Cleft palate
OMIM:613309	RPS17	6218	HP:0000086	Ectopic kidney
OMIM:613309	RPS17	6218	HP:0004322	Short stature
OMIM:613309	RPS17	6218	HP:0000405	Conductive hearing impairment
OMIM:613309	RPS17	6218	HP:0000347	Micrognathia
OMIM:613309	RPS17	6218	HP:0002880	Respiratory difficulties
OMIM:613309	RPS17	6218	HP:0001896	Reticulocytopenia
OMIM:613309	RPS17	6218	HP:0000272	Malar flattening
OMIM:613309	RPS17	6218	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPL26	6154	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPL26	6154	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPL26	6154	HP:0000453	Choanal atresia
OMIM:613309	RPL26	6154	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPL26	6154	HP:0001972	Macrocytic anemia
OMIM:613309	RPL26	6154	HP:0000369	Low-set ears
OMIM:613309	RPL26	6154	HP:0008551	Microtia
OMIM:613309	RPL26	6154	HP:0001629	Ventricular septal defect
OMIM:613309	RPL26	6154	HP:0000175	Cleft palate
OMIM:613309	RPL26	6154	HP:0000086	Ectopic kidney
OMIM:613309	RPL26	6154	HP:0004322	Short stature
OMIM:613309	RPL26	6154	HP:0000405	Conductive hearing impairment
OMIM:613309	RPL26	6154	HP:0000347	Micrognathia
OMIM:613309	RPL26	6154	HP:0002880	Respiratory difficulties
OMIM:613309	RPL26	6154	HP:0001896	Reticulocytopenia
OMIM:613309	RPL26	6154	HP:0000272	Malar flattening
OMIM:613309	RPL26	6154	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPL5	6125	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPL5	6125	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPL5	6125	HP:0000453	Choanal atresia
OMIM:613309	RPL5	6125	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPL5	6125	HP:0001972	Macrocytic anemia
OMIM:613309	RPL5	6125	HP:0000369	Low-set ears
OMIM:613309	RPL5	6125	HP:0008551	Microtia
OMIM:613309	RPL5	6125	HP:0001629	Ventricular septal defect
OMIM:613309	RPL5	6125	HP:0000175	Cleft palate
OMIM:613309	RPL5	6125	HP:0000086	Ectopic kidney
OMIM:613309	RPL5	6125	HP:0004322	Short stature
OMIM:613309	RPL5	6125	HP:0000405	Conductive hearing impairment
OMIM:613309	RPL5	6125	HP:0000347	Micrognathia
OMIM:613309	RPL5	6125	HP:0002880	Respiratory difficulties
OMIM:613309	RPL5	6125	HP:0001896	Reticulocytopenia
OMIM:613309	RPL5	6125	HP:0000272	Malar flattening
OMIM:613309	RPL5	6125	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPS19	6223	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPS19	6223	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPS19	6223	HP:0000453	Choanal atresia
OMIM:613309	RPS19	6223	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPS19	6223	HP:0001972	Macrocytic anemia
OMIM:613309	RPS19	6223	HP:0000369	Low-set ears
OMIM:613309	RPS19	6223	HP:0008551	Microtia
OMIM:613309	RPS19	6223	HP:0001629	Ventricular septal defect
OMIM:613309	RPS19	6223	HP:0000175	Cleft palate
OMIM:613309	RPS19	6223	HP:0000086	Ectopic kidney
OMIM:613309	RPS19	6223	HP:0004322	Short stature
OMIM:613309	RPS19	6223	HP:0000405	Conductive hearing impairment
OMIM:613309	RPS19	6223	HP:0000347	Micrognathia
OMIM:613309	RPS19	6223	HP:0002880	Respiratory difficulties
OMIM:613309	RPS19	6223	HP:0001896	Reticulocytopenia
OMIM:613309	RPS19	6223	HP:0000272	Malar flattening
OMIM:613309	RPS19	6223	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPS24	6229	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPS24	6229	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPS24	6229	HP:0000453	Choanal atresia
OMIM:613309	RPS24	6229	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPS24	6229	HP:0001972	Macrocytic anemia
OMIM:613309	RPS24	6229	HP:0000369	Low-set ears
OMIM:613309	RPS24	6229	HP:0008551	Microtia
OMIM:613309	RPS24	6229	HP:0001629	Ventricular septal defect
OMIM:613309	RPS24	6229	HP:0000175	Cleft palate
OMIM:613309	RPS24	6229	HP:0000086	Ectopic kidney
OMIM:613309	RPS24	6229	HP:0004322	Short stature
OMIM:613309	RPS24	6229	HP:0000405	Conductive hearing impairment
OMIM:613309	RPS24	6229	HP:0000347	Micrognathia
OMIM:613309	RPS24	6229	HP:0002880	Respiratory difficulties
OMIM:613309	RPS24	6229	HP:0001896	Reticulocytopenia
OMIM:613309	RPS24	6229	HP:0000272	Malar flattening
OMIM:613309	RPS24	6229	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPL35A	6165	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPL35A	6165	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPL35A	6165	HP:0000453	Choanal atresia
OMIM:613309	RPL35A	6165	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPL35A	6165	HP:0001972	Macrocytic anemia
OMIM:613309	RPL35A	6165	HP:0000369	Low-set ears
OMIM:613309	RPL35A	6165	HP:0008551	Microtia
OMIM:613309	RPL35A	6165	HP:0001629	Ventricular septal defect
OMIM:613309	RPL35A	6165	HP:0000175	Cleft palate
OMIM:613309	RPL35A	6165	HP:0000086	Ectopic kidney
OMIM:613309	RPL35A	6165	HP:0004322	Short stature
OMIM:613309	RPL35A	6165	HP:0000405	Conductive hearing impairment
OMIM:613309	RPL35A	6165	HP:0000347	Micrognathia
OMIM:613309	RPL35A	6165	HP:0002880	Respiratory difficulties
OMIM:613309	RPL35A	6165	HP:0001896	Reticulocytopenia
OMIM:613309	RPL35A	6165	HP:0000272	Malar flattening
OMIM:613309	RPL35A	6165	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPS26	6231	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPS26	6231	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPS26	6231	HP:0000453	Choanal atresia
OMIM:613309	RPS26	6231	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPS26	6231	HP:0001972	Macrocytic anemia
OMIM:613309	RPS26	6231	HP:0000369	Low-set ears
OMIM:613309	RPS26	6231	HP:0008551	Microtia
OMIM:613309	RPS26	6231	HP:0001629	Ventricular septal defect
OMIM:613309	RPS26	6231	HP:0000175	Cleft palate
OMIM:613309	RPS26	6231	HP:0000086	Ectopic kidney
OMIM:613309	RPS26	6231	HP:0004322	Short stature
OMIM:613309	RPS26	6231	HP:0000405	Conductive hearing impairment
OMIM:613309	RPS26	6231	HP:0000347	Micrognathia
OMIM:613309	RPS26	6231	HP:0002880	Respiratory difficulties
OMIM:613309	RPS26	6231	HP:0001896	Reticulocytopenia
OMIM:613309	RPS26	6231	HP:0000272	Malar flattening
OMIM:613309	RPS26	6231	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPL11	6135	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPL11	6135	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPL11	6135	HP:0000453	Choanal atresia
OMIM:613309	RPL11	6135	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPL11	6135	HP:0001972	Macrocytic anemia
OMIM:613309	RPL11	6135	HP:0000369	Low-set ears
OMIM:613309	RPL11	6135	HP:0008551	Microtia
OMIM:613309	RPL11	6135	HP:0001629	Ventricular septal defect
OMIM:613309	RPL11	6135	HP:0000175	Cleft palate
OMIM:613309	RPL11	6135	HP:0000086	Ectopic kidney
OMIM:613309	RPL11	6135	HP:0004322	Short stature
OMIM:613309	RPL11	6135	HP:0000405	Conductive hearing impairment
OMIM:613309	RPL11	6135	HP:0000347	Micrognathia
OMIM:613309	RPL11	6135	HP:0002880	Respiratory difficulties
OMIM:613309	RPL11	6135	HP:0001896	Reticulocytopenia
OMIM:613309	RPL11	6135	HP:0000272	Malar flattening
OMIM:613309	RPL11	6135	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPS7	6201	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPS7	6201	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPS7	6201	HP:0000453	Choanal atresia
OMIM:613309	RPS7	6201	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPS7	6201	HP:0001972	Macrocytic anemia
OMIM:613309	RPS7	6201	HP:0000369	Low-set ears
OMIM:613309	RPS7	6201	HP:0008551	Microtia
OMIM:613309	RPS7	6201	HP:0001629	Ventricular septal defect
OMIM:613309	RPS7	6201	HP:0000175	Cleft palate
OMIM:613309	RPS7	6201	HP:0000086	Ectopic kidney
OMIM:613309	RPS7	6201	HP:0004322	Short stature
OMIM:613309	RPS7	6201	HP:0000405	Conductive hearing impairment
OMIM:613309	RPS7	6201	HP:0000347	Micrognathia
OMIM:613309	RPS7	6201	HP:0002880	Respiratory difficulties
OMIM:613309	RPS7	6201	HP:0001896	Reticulocytopenia
OMIM:613309	RPS7	6201	HP:0000272	Malar flattening
OMIM:613309	RPS7	6201	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPL15	6138	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPL15	6138	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPL15	6138	HP:0000453	Choanal atresia
OMIM:613309	RPL15	6138	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPL15	6138	HP:0001972	Macrocytic anemia
OMIM:613309	RPL15	6138	HP:0000369	Low-set ears
OMIM:613309	RPL15	6138	HP:0008551	Microtia
OMIM:613309	RPL15	6138	HP:0001629	Ventricular septal defect
OMIM:613309	RPL15	6138	HP:0000175	Cleft palate
OMIM:613309	RPL15	6138	HP:0000086	Ectopic kidney
OMIM:613309	RPL15	6138	HP:0004322	Short stature
OMIM:613309	RPL15	6138	HP:0000405	Conductive hearing impairment
OMIM:613309	RPL15	6138	HP:0000347	Micrognathia
OMIM:613309	RPL15	6138	HP:0002880	Respiratory difficulties
OMIM:613309	RPL15	6138	HP:0001896	Reticulocytopenia
OMIM:613309	RPL15	6138	HP:0000272	Malar flattening
OMIM:613309	RPL15	6138	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPS28	6234	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPS28	6234	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPS28	6234	HP:0000453	Choanal atresia
OMIM:613309	RPS28	6234	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPS28	6234	HP:0001972	Macrocytic anemia
OMIM:613309	RPS28	6234	HP:0000369	Low-set ears
OMIM:613309	RPS28	6234	HP:0008551	Microtia
OMIM:613309	RPS28	6234	HP:0001629	Ventricular septal defect
OMIM:613309	RPS28	6234	HP:0000175	Cleft palate
OMIM:613309	RPS28	6234	HP:0000086	Ectopic kidney
OMIM:613309	RPS28	6234	HP:0004322	Short stature
OMIM:613309	RPS28	6234	HP:0000405	Conductive hearing impairment
OMIM:613309	RPS28	6234	HP:0000347	Micrognathia
OMIM:613309	RPS28	6234	HP:0002880	Respiratory difficulties
OMIM:613309	RPS28	6234	HP:0001896	Reticulocytopenia
OMIM:613309	RPS28	6234	HP:0000272	Malar flattening
OMIM:613309	RPS28	6234	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPS29	6235	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPS29	6235	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPS29	6235	HP:0000453	Choanal atresia
OMIM:613309	RPS29	6235	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPS29	6235	HP:0001972	Macrocytic anemia
OMIM:613309	RPS29	6235	HP:0000369	Low-set ears
OMIM:613309	RPS29	6235	HP:0008551	Microtia
OMIM:613309	RPS29	6235	HP:0001629	Ventricular septal defect
OMIM:613309	RPS29	6235	HP:0000175	Cleft palate
OMIM:613309	RPS29	6235	HP:0000086	Ectopic kidney
OMIM:613309	RPS29	6235	HP:0004322	Short stature
OMIM:613309	RPS29	6235	HP:0000405	Conductive hearing impairment
OMIM:613309	RPS29	6235	HP:0000347	Micrognathia
OMIM:613309	RPS29	6235	HP:0002880	Respiratory difficulties
OMIM:613309	RPS29	6235	HP:0001896	Reticulocytopenia
OMIM:613309	RPS29	6235	HP:0000272	Malar flattening
OMIM:613309	RPS29	6235	HP:0000413	Atresia of the external auditory canal
OMIM:613309	RPS10	6204	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	RPS10	6204	HP:0000358	Posteriorly rotated ears
OMIM:613309	RPS10	6204	HP:0000453	Choanal atresia
OMIM:613309	RPS10	6204	HP:0001643	Patent ductus arteriosus
OMIM:613309	RPS10	6204	HP:0001972	Macrocytic anemia
OMIM:613309	RPS10	6204	HP:0000369	Low-set ears
OMIM:613309	RPS10	6204	HP:0008551	Microtia
OMIM:613309	RPS10	6204	HP:0001629	Ventricular septal defect
OMIM:613309	RPS10	6204	HP:0000175	Cleft palate
OMIM:613309	RPS10	6204	HP:0000086	Ectopic kidney
OMIM:613309	RPS10	6204	HP:0004322	Short stature
OMIM:613309	RPS10	6204	HP:0000405	Conductive hearing impairment
OMIM:613309	RPS10	6204	HP:0000347	Micrognathia
OMIM:613309	RPS10	6204	HP:0002880	Respiratory difficulties
OMIM:613309	RPS10	6204	HP:0001896	Reticulocytopenia
OMIM:613309	RPS10	6204	HP:0000272	Malar flattening
OMIM:613309	RPS10	6204	HP:0000413	Atresia of the external auditory canal
OMIM:613309	GATA1	2623	HP:0000776	Congenital diaphragmatic hernia
OMIM:613309	GATA1	2623	HP:0000358	Posteriorly rotated ears
OMIM:613309	GATA1	2623	HP:0000453	Choanal atresia
OMIM:613309	GATA1	2623	HP:0001643	Patent ductus arteriosus
OMIM:613309	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:613309	GATA1	2623	HP:0000369	Low-set ears
OMIM:613309	GATA1	2623	HP:0008551	Microtia
OMIM:613309	GATA1	2623	HP:0001629	Ventricular septal defect
OMIM:613309	GATA1	2623	HP:0000175	Cleft palate
OMIM:613309	GATA1	2623	HP:0000086	Ectopic kidney
OMIM:613309	GATA1	2623	HP:0004322	Short stature
OMIM:613309	GATA1	2623	HP:0000405	Conductive hearing impairment
OMIM:613309	GATA1	2623	HP:0000347	Micrognathia
OMIM:613309	GATA1	2623	HP:0002880	Respiratory difficulties
OMIM:613309	GATA1	2623	HP:0001896	Reticulocytopenia
OMIM:613309	GATA1	2623	HP:0000272	Malar flattening
OMIM:613309	GATA1	2623	HP:0000413	Atresia of the external auditory canal
OMIM:613887	TDRD7	23424	HP:0000007	Autosomal recessive inheritance
OMIM:613887	TDRD7	23424	HP:0000518	Cataract
OMIM:254780	NHLRC1	378884	HP:0000709	Psychosis
OMIM:254780	NHLRC1	378884	HP:0002121	Absence seizures
OMIM:254780	NHLRC1	378884	HP:0000992	Cutaneous photosensitivity
OMIM:254780	NHLRC1	378884	HP:0011165	Visual auras
OMIM:254780	NHLRC1	378884	HP:0001288	Gait disturbance
OMIM:254780	NHLRC1	378884	HP:0003678	Rapidly progressive
OMIM:254780	NHLRC1	378884	HP:0001336	Myoclonus
OMIM:254780	NHLRC1	378884	HP:0001425	Heterogeneous
OMIM:254780	NHLRC1	378884	HP:0002123	Generalized myoclonic seizures
OMIM:254780	NHLRC1	378884	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:254780	NHLRC1	378884	HP:0000726	Dementia
OMIM:254780	NHLRC1	378884	HP:0002344	Progressive neurologic deterioration
OMIM:254780	NHLRC1	378884	HP:0002367	Visual hallucinations
OMIM:254780	NHLRC1	378884	HP:0002069	Generalized tonic-clonic seizures
OMIM:254780	NHLRC1	378884	HP:0000572	Visual loss
OMIM:254780	NHLRC1	378884	HP:0002186	Apraxia
OMIM:254780	NHLRC1	378884	HP:0001399	Hepatic failure
OMIM:254780	NHLRC1	378884	HP:0007334	Bilateral convulsive seizures
OMIM:254780	NHLRC1	378884	HP:0000007	Autosomal recessive inheritance
OMIM:254780	EPM2A	7957	HP:0000709	Psychosis
OMIM:254780	EPM2A	7957	HP:0002121	Absence seizures
OMIM:254780	EPM2A	7957	HP:0000992	Cutaneous photosensitivity
OMIM:254780	EPM2A	7957	HP:0011165	Visual auras
OMIM:254780	EPM2A	7957	HP:0001288	Gait disturbance
OMIM:254780	EPM2A	7957	HP:0003678	Rapidly progressive
OMIM:254780	EPM2A	7957	HP:0001336	Myoclonus
OMIM:254780	EPM2A	7957	HP:0001425	Heterogeneous
OMIM:254780	EPM2A	7957	HP:0002123	Generalized myoclonic seizures
OMIM:254780	EPM2A	7957	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:254780	EPM2A	7957	HP:0000726	Dementia
OMIM:254780	EPM2A	7957	HP:0002344	Progressive neurologic deterioration
OMIM:254780	EPM2A	7957	HP:0002367	Visual hallucinations
OMIM:254780	EPM2A	7957	HP:0002069	Generalized tonic-clonic seizures
OMIM:254780	EPM2A	7957	HP:0000572	Visual loss
OMIM:254780	EPM2A	7957	HP:0002186	Apraxia
OMIM:254780	EPM2A	7957	HP:0001399	Hepatic failure
OMIM:254780	EPM2A	7957	HP:0007334	Bilateral convulsive seizures
OMIM:254780	EPM2A	7957	HP:0000007	Autosomal recessive inheritance
OMIM:613757	RAX2	84839	HP:0000608	Macular degeneration
OMIM:603285	PDCD10	11235	HP:0001250	Seizures
OMIM:603285	PDCD10	11235	HP:0002060	Abnormality of the cerebrum
OMIM:603285	PDCD10	11235	HP:0003470	Paralysis
OMIM:603285	PDCD10	11235	HP:0002315	Headache
OMIM:603285	CCM2	83605	HP:0001250	Seizures
OMIM:603285	CCM2	83605	HP:0002060	Abnormality of the cerebrum
OMIM:603285	CCM2	83605	HP:0003470	Paralysis
OMIM:603285	CCM2	83605	HP:0002315	Headache
OMIM:603285	KRIT1	889	HP:0001250	Seizures
OMIM:603285	KRIT1	889	HP:0002060	Abnormality of the cerebrum
OMIM:603285	KRIT1	889	HP:0003470	Paralysis
OMIM:603285	KRIT1	889	HP:0002315	Headache
OMIM:123740	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:123740	CRYM	1428	HP:0000365	Hearing impairment
OMIM:253300	SMN1	6606	HP:0001308	Tongue fasciculations
OMIM:253300	SMN1	6606	HP:0001284	Areflexia
OMIM:253300	SMN1	6606	HP:0001558	Decreased fetal movement
OMIM:253300	SMN1	6606	HP:0003445	EMG: neuropathic changes
OMIM:253300	SMN1	6606	HP:0001631	Atria septal defect
OMIM:253300	SMN1	6606	HP:0007126	Proximal amyotrophy
OMIM:253300	SMN1	6606	HP:0008994	Proximal muscle weakness in lower limbs
OMIM:253300	SMN1	6606	HP:0002878	Respiratory failure
OMIM:253300	SMN1	6606	HP:0007269	Spinal muscular atrophy
OMIM:253300	SMN1	6606	HP:0000007	Autosomal recessive inheritance
OMIM:253300	SMN1	6606	HP:0002205	Recurrent respiratory infections
OMIM:253300	SMN1	6606	HP:0001629	Ventricular septal defect
OMIM:253300	SMN2	6607	HP:0001308	Tongue fasciculations
OMIM:253300	SMN2	6607	HP:0001284	Areflexia
OMIM:253300	SMN2	6607	HP:0001558	Decreased fetal movement
OMIM:253300	SMN2	6607	HP:0003445	EMG: neuropathic changes
OMIM:253300	SMN2	6607	HP:0001631	Atria septal defect
OMIM:253300	SMN2	6607	HP:0007126	Proximal amyotrophy
OMIM:253300	SMN2	6607	HP:0008994	Proximal muscle weakness in lower limbs
OMIM:253300	SMN2	6607	HP:0002878	Respiratory failure
OMIM:253300	SMN2	6607	HP:0007269	Spinal muscular atrophy
OMIM:253300	SMN2	6607	HP:0000007	Autosomal recessive inheritance
OMIM:253300	SMN2	6607	HP:0002205	Recurrent respiratory infections
OMIM:253300	SMN2	6607	HP:0001629	Ventricular septal defect
OMIM:253300	NAIP	4671	HP:0001308	Tongue fasciculations
OMIM:253300	NAIP	4671	HP:0001284	Areflexia
OMIM:253300	NAIP	4671	HP:0001558	Decreased fetal movement
OMIM:253300	NAIP	4671	HP:0003445	EMG: neuropathic changes
OMIM:253300	NAIP	4671	HP:0001631	Atria septal defect
OMIM:253300	NAIP	4671	HP:0007126	Proximal amyotrophy
OMIM:253300	NAIP	4671	HP:0008994	Proximal muscle weakness in lower limbs
OMIM:253300	NAIP	4671	HP:0002878	Respiratory failure
OMIM:253300	NAIP	4671	HP:0007269	Spinal muscular atrophy
OMIM:253300	NAIP	4671	HP:0000007	Autosomal recessive inheritance
OMIM:253300	NAIP	4671	HP:0002205	Recurrent respiratory infections
OMIM:253300	NAIP	4671	HP:0001629	Ventricular septal defect
OMIM:410000	AMELY	266	HP:0001450	Y-linked inheritance
OMIM:410000	AMELY	266	HP:0000164	Abnormality of the teeth
OMIM:615582	TGFB3	7043	HP:0000023	Inguinal hernia
OMIM:615582	TGFB3	7043	HP:0000577	Exotropia
OMIM:615582	TGFB3	7043	HP:0000592	Blue sclerae
OMIM:615582	TGFB3	7043	HP:0000319	Smooth philtrum
OMIM:615582	TGFB3	7043	HP:0001653	Mitral regurgitation
OMIM:615582	TGFB3	7043	HP:0000098	Tall stature
OMIM:615582	TGFB3	7043	HP:0000768	Pectus carinatum
OMIM:615582	TGFB3	7043	HP:0001629	Ventricular septal defect
OMIM:615582	TGFB3	7043	HP:0000276	Long face
OMIM:615582	TGFB3	7043	HP:0000278	Retrognathia
OMIM:615582	TGFB3	7043	HP:0000316	Hypertelorism
OMIM:615582	TGFB3	7043	HP:0004322	Short stature
OMIM:615582	TGFB3	7043	HP:0001166	Arachnodactyly
OMIM:615582	TGFB3	7043	HP:0000193	Bifid uvula
OMIM:615582	TGFB3	7043	HP:0000520	Proptosis
OMIM:615582	TGFB3	7043	HP:0000268	Dolichocephaly
OMIM:615582	TGFB3	7043	HP:0001518	Small for gestational age
OMIM:615582	TGFB3	7043	HP:0011800	Hypoplasia of midface
OMIM:615582	TGFB3	7043	HP:0000175	Cleft palate
OMIM:615582	TGFB3	7043	HP:0001762	Talipes equinovarus
OMIM:615582	TGFB3	7043	HP:0000006	Autosomal dominant inheritance
OMIM:615582	TGFB3	7043	HP:0001655	Patent foramen ovale
OMIM:615582	TGFB3	7043	HP:0000508	Ptosis
OMIM:615582	TGFB3	7043	HP:0001265	Hyporeflexia
OMIM:615582	TGFB3	7043	HP:0000494	Downslanted palpebral fissures
OMIM:615582	TGFB3	7043	HP:0001763	Pes planus
OMIM:615582	TGFB3	7043	HP:0000767	Pectus excavatum
OMIM:615582	TGFB3	7043	HP:0001270	Motor delay
OMIM:615582	TGFB3	7043	HP:0000218	High palate
OMIM:615582	TGFB3	7043	HP:0000978	Bruising susceptibility
OMIM:615582	TGFB3	7043	HP:0000248	Brachycephaly
OMIM:615582	TGFB3	7043	HP:0001382	Joint hypermobility
OMIM:615582	TGFB3	7043	HP:0002751	Kyphoscoliosis
OMIM:611554	BRAF	673	HP:0000179	Thick lower lip vermilion
OMIM:611554	BRAF	673	HP:0000957	Cafe-au-lait spot
OMIM:611554	BRAF	673	HP:0000958	Dry skin
OMIM:611554	BRAF	673	HP:0005280	Depressed nasal bridge
OMIM:611554	BRAF	673	HP:0000369	Low-set ears
OMIM:611554	BRAF	673	HP:0000766	Abnormality of the sternum
OMIM:611554	BRAF	673	HP:0000316	Hypertelorism
OMIM:611554	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611554	BRAF	673	HP:0000470	Short neck
OMIM:611554	BRAF	673	HP:0004322	Short stature
OMIM:611554	BRAF	673	HP:0000268	Dolichocephaly
OMIM:611554	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:611554	BRAF	673	HP:0000465	Webbed neck
OMIM:611554	BRAF	673	HP:0002967	Cubitus valgus
OMIM:611554	BRAF	673	HP:0002212	Curly hair
OMIM:611554	BRAF	673	HP:0000286	Epicanthus
OMIM:611554	BRAF	673	HP:0000303	Mandibular prognathia
OMIM:611554	BRAF	673	HP:0000494	Downslanted palpebral fissures
OMIM:611554	PTPN11	5781	HP:0000179	Thick lower lip vermilion
OMIM:611554	PTPN11	5781	HP:0000957	Cafe-au-lait spot
OMIM:611554	PTPN11	5781	HP:0000958	Dry skin
OMIM:611554	PTPN11	5781	HP:0005280	Depressed nasal bridge
OMIM:611554	PTPN11	5781	HP:0000369	Low-set ears
OMIM:611554	PTPN11	5781	HP:0000766	Abnormality of the sternum
OMIM:611554	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:611554	PTPN11	5781	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611554	PTPN11	5781	HP:0000470	Short neck
OMIM:611554	PTPN11	5781	HP:0004322	Short stature
OMIM:611554	PTPN11	5781	HP:0000268	Dolichocephaly
OMIM:611554	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:611554	PTPN11	5781	HP:0000465	Webbed neck
OMIM:611554	PTPN11	5781	HP:0002967	Cubitus valgus
OMIM:611554	PTPN11	5781	HP:0002212	Curly hair
OMIM:611554	PTPN11	5781	HP:0000286	Epicanthus
OMIM:611554	PTPN11	5781	HP:0000303	Mandibular prognathia
OMIM:611554	PTPN11	5781	HP:0000494	Downslanted palpebral fissures
OMIM:611554	RAF1	5894	HP:0000179	Thick lower lip vermilion
OMIM:611554	RAF1	5894	HP:0000957	Cafe-au-lait spot
OMIM:611554	RAF1	5894	HP:0000958	Dry skin
OMIM:611554	RAF1	5894	HP:0005280	Depressed nasal bridge
OMIM:611554	RAF1	5894	HP:0000369	Low-set ears
OMIM:611554	RAF1	5894	HP:0000766	Abnormality of the sternum
OMIM:611554	RAF1	5894	HP:0000316	Hypertelorism
OMIM:611554	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
OMIM:611554	RAF1	5894	HP:0000470	Short neck
OMIM:611554	RAF1	5894	HP:0004322	Short stature
OMIM:611554	RAF1	5894	HP:0000268	Dolichocephaly
OMIM:611554	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:611554	RAF1	5894	HP:0000465	Webbed neck
OMIM:611554	RAF1	5894	HP:0002967	Cubitus valgus
OMIM:611554	RAF1	5894	HP:0002212	Curly hair
OMIM:611554	RAF1	5894	HP:0000286	Epicanthus
OMIM:611554	RAF1	5894	HP:0000303	Mandibular prognathia
OMIM:611554	RAF1	5894	HP:0000494	Downslanted palpebral fissures
OMIM:235800	HAL	3034	HP:0001249	Intellectual disability
OMIM:235800	HAL	3034	HP:0002167	Neurological speech impairment
OMIM:235800	HAL	3034	HP:0000708	Behavioral abnormality
OMIM:235800	HAL	3034	HP:0000007	Autosomal recessive inheritance
ORPHANET:95716	SLC5A5	6528	HP:0001392	Abnormality of the liver
ORPHANET:95716	SLC5A5	6528	HP:0000821	Hypothyroidism
ORPHANET:95716	SLC5A5	6528	HP:0000853	Goiter
ORPHANET:95716	SLC5A5	6528	HP:0000280	Coarse facial features
ORPHANET:95716	SLC5A5	6528	HP:0004322	Short stature
ORPHANET:95716	SLC5A5	6528	HP:0000157	Abnormality of the tongue
ORPHANET:95716	SLC5A5	6528	HP:0002360	Sleep disturbance
ORPHANET:95716	SLC5A5	6528	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95716	SLC5A5	6528	HP:0001252	Muscular hypotonia
ORPHANET:95716	SLC5A5	6528	HP:0001537	Umbilical hernia
ORPHANET:95716	SLC5A5	6528	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95716	SLC5A5	6528	HP:0002019	Constipation
ORPHANET:95716	SLC5A5	6528	HP:0100543	Cognitive impairment
ORPHANET:95716	TPO	7173	HP:0001392	Abnormality of the liver
ORPHANET:95716	TPO	7173	HP:0000821	Hypothyroidism
ORPHANET:95716	TPO	7173	HP:0000853	Goiter
ORPHANET:95716	TPO	7173	HP:0000280	Coarse facial features
ORPHANET:95716	TPO	7173	HP:0004322	Short stature
ORPHANET:95716	TPO	7173	HP:0000157	Abnormality of the tongue
ORPHANET:95716	TPO	7173	HP:0002360	Sleep disturbance
ORPHANET:95716	TPO	7173	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95716	TPO	7173	HP:0001252	Muscular hypotonia
ORPHANET:95716	TPO	7173	HP:0001537	Umbilical hernia
ORPHANET:95716	TPO	7173	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95716	TPO	7173	HP:0002019	Constipation
ORPHANET:95716	TPO	7173	HP:0100543	Cognitive impairment
ORPHANET:95716	DUOX2	50506	HP:0001392	Abnormality of the liver
ORPHANET:95716	DUOX2	50506	HP:0000821	Hypothyroidism
ORPHANET:95716	DUOX2	50506	HP:0000853	Goiter
ORPHANET:95716	DUOX2	50506	HP:0000280	Coarse facial features
ORPHANET:95716	DUOX2	50506	HP:0004322	Short stature
ORPHANET:95716	DUOX2	50506	HP:0000157	Abnormality of the tongue
ORPHANET:95716	DUOX2	50506	HP:0002360	Sleep disturbance
ORPHANET:95716	DUOX2	50506	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95716	DUOX2	50506	HP:0001252	Muscular hypotonia
ORPHANET:95716	DUOX2	50506	HP:0001537	Umbilical hernia
ORPHANET:95716	DUOX2	50506	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95716	DUOX2	50506	HP:0002019	Constipation
ORPHANET:95716	DUOX2	50506	HP:0100543	Cognitive impairment
ORPHANET:95716	TG	7038	HP:0001392	Abnormality of the liver
ORPHANET:95716	TG	7038	HP:0000821	Hypothyroidism
ORPHANET:95716	TG	7038	HP:0000853	Goiter
ORPHANET:95716	TG	7038	HP:0000280	Coarse facial features
ORPHANET:95716	TG	7038	HP:0004322	Short stature
ORPHANET:95716	TG	7038	HP:0000157	Abnormality of the tongue
ORPHANET:95716	TG	7038	HP:0002360	Sleep disturbance
ORPHANET:95716	TG	7038	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95716	TG	7038	HP:0001252	Muscular hypotonia
ORPHANET:95716	TG	7038	HP:0001537	Umbilical hernia
ORPHANET:95716	TG	7038	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95716	TG	7038	HP:0002019	Constipation
ORPHANET:95716	TG	7038	HP:0100543	Cognitive impairment
ORPHANET:95716	DUOXA2	405753	HP:0001392	Abnormality of the liver
ORPHANET:95716	DUOXA2	405753	HP:0000821	Hypothyroidism
ORPHANET:95716	DUOXA2	405753	HP:0000853	Goiter
ORPHANET:95716	DUOXA2	405753	HP:0000280	Coarse facial features
ORPHANET:95716	DUOXA2	405753	HP:0004322	Short stature
ORPHANET:95716	DUOXA2	405753	HP:0000157	Abnormality of the tongue
ORPHANET:95716	DUOXA2	405753	HP:0002360	Sleep disturbance
ORPHANET:95716	DUOXA2	405753	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95716	DUOXA2	405753	HP:0001252	Muscular hypotonia
ORPHANET:95716	DUOXA2	405753	HP:0001537	Umbilical hernia
ORPHANET:95716	DUOXA2	405753	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95716	DUOXA2	405753	HP:0002019	Constipation
ORPHANET:95716	DUOXA2	405753	HP:0100543	Cognitive impairment
ORPHANET:95716	IYD	389434	HP:0001392	Abnormality of the liver
ORPHANET:95716	IYD	389434	HP:0000821	Hypothyroidism
ORPHANET:95716	IYD	389434	HP:0000853	Goiter
ORPHANET:95716	IYD	389434	HP:0000280	Coarse facial features
ORPHANET:95716	IYD	389434	HP:0004322	Short stature
ORPHANET:95716	IYD	389434	HP:0000157	Abnormality of the tongue
ORPHANET:95716	IYD	389434	HP:0002360	Sleep disturbance
ORPHANET:95716	IYD	389434	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95716	IYD	389434	HP:0001252	Muscular hypotonia
ORPHANET:95716	IYD	389434	HP:0001537	Umbilical hernia
ORPHANET:95716	IYD	389434	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95716	IYD	389434	HP:0002019	Constipation
ORPHANET:95716	IYD	389434	HP:0100543	Cognitive impairment
ORPHANET:1146	TNNI2	7136	HP:0001181	Adducted thumb
ORPHANET:1146	TNNI2	7136	HP:0001883	Talipes
ORPHANET:1146	TNNI2	7136	HP:0003272	Abnormality of the hip bone
ORPHANET:1146	TNNI2	7136	HP:0009465	Ulnar deviation of finger
ORPHANET:1146	TNNI2	7136	HP:0000160	Narrow mouth
ORPHANET:1146	TNNI2	7136	HP:0001838	Rocker bottom foot
ORPHANET:1146	TNNI2	7136	HP:0001376	Limitation of joint mobility
ORPHANET:1146	TNNI2	7136	HP:0100490	Camptodactyly of finger
ORPHANET:1146	TPM2	7169	HP:0001181	Adducted thumb
ORPHANET:1146	TPM2	7169	HP:0001883	Talipes
ORPHANET:1146	TPM2	7169	HP:0003272	Abnormality of the hip bone
ORPHANET:1146	TPM2	7169	HP:0009465	Ulnar deviation of finger
ORPHANET:1146	TPM2	7169	HP:0000160	Narrow mouth
ORPHANET:1146	TPM2	7169	HP:0001838	Rocker bottom foot
ORPHANET:1146	TPM2	7169	HP:0001376	Limitation of joint mobility
ORPHANET:1146	TPM2	7169	HP:0100490	Camptodactyly of finger
ORPHANET:1146	TNNT3	7140	HP:0001181	Adducted thumb
ORPHANET:1146	TNNT3	7140	HP:0001883	Talipes
ORPHANET:1146	TNNT3	7140	HP:0003272	Abnormality of the hip bone
ORPHANET:1146	TNNT3	7140	HP:0009465	Ulnar deviation of finger
ORPHANET:1146	TNNT3	7140	HP:0000160	Narrow mouth
ORPHANET:1146	TNNT3	7140	HP:0001838	Rocker bottom foot
ORPHANET:1146	TNNT3	7140	HP:0001376	Limitation of joint mobility
ORPHANET:1146	TNNT3	7140	HP:0100490	Camptodactyly of finger
ORPHANET:1146	MYBPC1	4604	HP:0001181	Adducted thumb
ORPHANET:1146	MYBPC1	4604	HP:0001883	Talipes
ORPHANET:1146	MYBPC1	4604	HP:0003272	Abnormality of the hip bone
ORPHANET:1146	MYBPC1	4604	HP:0009465	Ulnar deviation of finger
ORPHANET:1146	MYBPC1	4604	HP:0000160	Narrow mouth
ORPHANET:1146	MYBPC1	4604	HP:0001838	Rocker bottom foot
ORPHANET:1146	MYBPC1	4604	HP:0001376	Limitation of joint mobility
ORPHANET:1146	MYBPC1	4604	HP:0100490	Camptodactyly of finger
ORPHANET:1146	MYH3	4621	HP:0001181	Adducted thumb
ORPHANET:1146	MYH3	4621	HP:0001883	Talipes
ORPHANET:1146	MYH3	4621	HP:0003272	Abnormality of the hip bone
ORPHANET:1146	MYH3	4621	HP:0009465	Ulnar deviation of finger
ORPHANET:1146	MYH3	4621	HP:0000160	Narrow mouth
ORPHANET:1146	MYH3	4621	HP:0001838	Rocker bottom foot
ORPHANET:1146	MYH3	4621	HP:0001376	Limitation of joint mobility
ORPHANET:1146	MYH3	4621	HP:0100490	Camptodactyly of finger
OMIM:300672	PIGQ	9091	HP:0002376	Developmental regression
OMIM:300672	PIGQ	9091	HP:0200055	Small hand
OMIM:300672	PIGQ	9091	HP:0000179	Thick lower lip vermilion
OMIM:300672	PIGQ	9091	HP:0002020	Gastroesophageal reflux
OMIM:300672	PIGQ	9091	HP:0000490	Deeply set eye
OMIM:300672	PIGQ	9091	HP:0002540	Inability to walk
OMIM:300672	PIGQ	9091	HP:0011220	Prominent forehead
OMIM:300672	PIGQ	9091	HP:0003593	Infantile onset
OMIM:300672	PIGQ	9091	HP:0002019	Constipation
OMIM:300672	PIGQ	9091	HP:0002123	Generalized myoclonic seizures
OMIM:300672	PIGQ	9091	HP:0002187	Intellectual disability, profound
OMIM:300672	PIGQ	9091	HP:0000733	Stereotypic behavior
OMIM:300672	PIGQ	9091	HP:0000337	Broad forehead
OMIM:300672	PIGQ	9091	HP:0001263	Global developmental delay
OMIM:300672	PIGQ	9091	HP:0001423	X-linked dominant inheritance
OMIM:300672	PIGQ	9091	HP:0004279	Short palm
OMIM:300672	PIGQ	9091	HP:0001773	Short foot
OMIM:300672	PIGQ	9091	HP:0002650	Scoliosis
OMIM:300672	PIGQ	9091	HP:0001182	Tapered finger
OMIM:300672	PIGQ	9091	HP:0002521	Hypsarrhythmia
OMIM:300672	PIGQ	9091	HP:0000463	Anteverted nares
OMIM:300672	PIGQ	9091	HP:0000253	Progressive microcephaly
OMIM:300672	PIGQ	9091	HP:0002883	Hyperventilation
OMIM:300672	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:300672	PIGQ	9091	HP:0001252	Muscular hypotonia
OMIM:300672	PIGQ	9091	HP:0001336	Myoclonus
OMIM:300672	PLCB1	23236	HP:0002376	Developmental regression
OMIM:300672	PLCB1	23236	HP:0200055	Small hand
OMIM:300672	PLCB1	23236	HP:0000179	Thick lower lip vermilion
OMIM:300672	PLCB1	23236	HP:0002020	Gastroesophageal reflux
OMIM:300672	PLCB1	23236	HP:0000490	Deeply set eye
OMIM:300672	PLCB1	23236	HP:0002540	Inability to walk
OMIM:300672	PLCB1	23236	HP:0011220	Prominent forehead
OMIM:300672	PLCB1	23236	HP:0003593	Infantile onset
OMIM:300672	PLCB1	23236	HP:0002019	Constipation
OMIM:300672	PLCB1	23236	HP:0002123	Generalized myoclonic seizures
OMIM:300672	PLCB1	23236	HP:0002187	Intellectual disability, profound
OMIM:300672	PLCB1	23236	HP:0000733	Stereotypic behavior
OMIM:300672	PLCB1	23236	HP:0000337	Broad forehead
OMIM:300672	PLCB1	23236	HP:0001263	Global developmental delay
OMIM:300672	PLCB1	23236	HP:0001423	X-linked dominant inheritance
OMIM:300672	PLCB1	23236	HP:0004279	Short palm
OMIM:300672	PLCB1	23236	HP:0001773	Short foot
OMIM:300672	PLCB1	23236	HP:0002650	Scoliosis
OMIM:300672	PLCB1	23236	HP:0001182	Tapered finger
OMIM:300672	PLCB1	23236	HP:0002521	Hypsarrhythmia
OMIM:300672	PLCB1	23236	HP:0000463	Anteverted nares
OMIM:300672	PLCB1	23236	HP:0000253	Progressive microcephaly
OMIM:300672	PLCB1	23236	HP:0002883	Hyperventilation
OMIM:300672	PLCB1	23236	HP:0200134	Epileptic encephalopathy
OMIM:300672	PLCB1	23236	HP:0001252	Muscular hypotonia
OMIM:300672	PLCB1	23236	HP:0001336	Myoclonus
OMIM:300672	SLC25A22	79751	HP:0002376	Developmental regression
OMIM:300672	SLC25A22	79751	HP:0200055	Small hand
OMIM:300672	SLC25A22	79751	HP:0000179	Thick lower lip vermilion
OMIM:300672	SLC25A22	79751	HP:0002020	Gastroesophageal reflux
OMIM:300672	SLC25A22	79751	HP:0000490	Deeply set eye
OMIM:300672	SLC25A22	79751	HP:0002540	Inability to walk
OMIM:300672	SLC25A22	79751	HP:0011220	Prominent forehead
OMIM:300672	SLC25A22	79751	HP:0003593	Infantile onset
OMIM:300672	SLC25A22	79751	HP:0002019	Constipation
OMIM:300672	SLC25A22	79751	HP:0002123	Generalized myoclonic seizures
OMIM:300672	SLC25A22	79751	HP:0002187	Intellectual disability, profound
OMIM:300672	SLC25A22	79751	HP:0000733	Stereotypic behavior
OMIM:300672	SLC25A22	79751	HP:0000337	Broad forehead
OMIM:300672	SLC25A22	79751	HP:0001263	Global developmental delay
OMIM:300672	SLC25A22	79751	HP:0001423	X-linked dominant inheritance
OMIM:300672	SLC25A22	79751	HP:0004279	Short palm
OMIM:300672	SLC25A22	79751	HP:0001773	Short foot
OMIM:300672	SLC25A22	79751	HP:0002650	Scoliosis
OMIM:300672	SLC25A22	79751	HP:0001182	Tapered finger
OMIM:300672	SLC25A22	79751	HP:0002521	Hypsarrhythmia
OMIM:300672	SLC25A22	79751	HP:0000463	Anteverted nares
OMIM:300672	SLC25A22	79751	HP:0000253	Progressive microcephaly
OMIM:300672	SLC25A22	79751	HP:0002883	Hyperventilation
OMIM:300672	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:300672	SLC25A22	79751	HP:0001252	Muscular hypotonia
OMIM:300672	SLC25A22	79751	HP:0001336	Myoclonus
OMIM:300672	NTNG1	22854	HP:0002376	Developmental regression
OMIM:300672	NTNG1	22854	HP:0200055	Small hand
OMIM:300672	NTNG1	22854	HP:0000179	Thick lower lip vermilion
OMIM:300672	NTNG1	22854	HP:0002020	Gastroesophageal reflux
OMIM:300672	NTNG1	22854	HP:0000490	Deeply set eye
OMIM:300672	NTNG1	22854	HP:0002540	Inability to walk
OMIM:300672	NTNG1	22854	HP:0011220	Prominent forehead
OMIM:300672	NTNG1	22854	HP:0003593	Infantile onset
OMIM:300672	NTNG1	22854	HP:0002019	Constipation
OMIM:300672	NTNG1	22854	HP:0002123	Generalized myoclonic seizures
OMIM:300672	NTNG1	22854	HP:0002187	Intellectual disability, profound
OMIM:300672	NTNG1	22854	HP:0000733	Stereotypic behavior
OMIM:300672	NTNG1	22854	HP:0000337	Broad forehead
OMIM:300672	NTNG1	22854	HP:0001263	Global developmental delay
OMIM:300672	NTNG1	22854	HP:0001423	X-linked dominant inheritance
OMIM:300672	NTNG1	22854	HP:0004279	Short palm
OMIM:300672	NTNG1	22854	HP:0001773	Short foot
OMIM:300672	NTNG1	22854	HP:0002650	Scoliosis
OMIM:300672	NTNG1	22854	HP:0001182	Tapered finger
OMIM:300672	NTNG1	22854	HP:0002521	Hypsarrhythmia
OMIM:300672	NTNG1	22854	HP:0000463	Anteverted nares
OMIM:300672	NTNG1	22854	HP:0000253	Progressive microcephaly
OMIM:300672	NTNG1	22854	HP:0002883	Hyperventilation
OMIM:300672	NTNG1	22854	HP:0200134	Epileptic encephalopathy
OMIM:300672	NTNG1	22854	HP:0001252	Muscular hypotonia
OMIM:300672	NTNG1	22854	HP:0001336	Myoclonus
OMIM:300672	CDKL5	6792	HP:0002376	Developmental regression
OMIM:300672	CDKL5	6792	HP:0200055	Small hand
OMIM:300672	CDKL5	6792	HP:0000179	Thick lower lip vermilion
OMIM:300672	CDKL5	6792	HP:0002020	Gastroesophageal reflux
OMIM:300672	CDKL5	6792	HP:0000490	Deeply set eye
OMIM:300672	CDKL5	6792	HP:0002540	Inability to walk
OMIM:300672	CDKL5	6792	HP:0011220	Prominent forehead
OMIM:300672	CDKL5	6792	HP:0003593	Infantile onset
OMIM:300672	CDKL5	6792	HP:0002019	Constipation
OMIM:300672	CDKL5	6792	HP:0002123	Generalized myoclonic seizures
OMIM:300672	CDKL5	6792	HP:0002187	Intellectual disability, profound
OMIM:300672	CDKL5	6792	HP:0000733	Stereotypic behavior
OMIM:300672	CDKL5	6792	HP:0000337	Broad forehead
OMIM:300672	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:300672	CDKL5	6792	HP:0001423	X-linked dominant inheritance
OMIM:300672	CDKL5	6792	HP:0004279	Short palm
OMIM:300672	CDKL5	6792	HP:0001773	Short foot
OMIM:300672	CDKL5	6792	HP:0002650	Scoliosis
OMIM:300672	CDKL5	6792	HP:0001182	Tapered finger
OMIM:300672	CDKL5	6792	HP:0002521	Hypsarrhythmia
OMIM:300672	CDKL5	6792	HP:0000463	Anteverted nares
OMIM:300672	CDKL5	6792	HP:0000253	Progressive microcephaly
OMIM:300672	CDKL5	6792	HP:0002883	Hyperventilation
OMIM:300672	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:300672	CDKL5	6792	HP:0001252	Muscular hypotonia
OMIM:300672	CDKL5	6792	HP:0001336	Myoclonus
OMIM:300672	KCNQ2	3785	HP:0002376	Developmental regression
OMIM:300672	KCNQ2	3785	HP:0200055	Small hand
OMIM:300672	KCNQ2	3785	HP:0000179	Thick lower lip vermilion
OMIM:300672	KCNQ2	3785	HP:0002020	Gastroesophageal reflux
OMIM:300672	KCNQ2	3785	HP:0000490	Deeply set eye
OMIM:300672	KCNQ2	3785	HP:0002540	Inability to walk
OMIM:300672	KCNQ2	3785	HP:0011220	Prominent forehead
OMIM:300672	KCNQ2	3785	HP:0003593	Infantile onset
OMIM:300672	KCNQ2	3785	HP:0002019	Constipation
OMIM:300672	KCNQ2	3785	HP:0002123	Generalized myoclonic seizures
OMIM:300672	KCNQ2	3785	HP:0002187	Intellectual disability, profound
OMIM:300672	KCNQ2	3785	HP:0000733	Stereotypic behavior
OMIM:300672	KCNQ2	3785	HP:0000337	Broad forehead
OMIM:300672	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:300672	KCNQ2	3785	HP:0001423	X-linked dominant inheritance
OMIM:300672	KCNQ2	3785	HP:0004279	Short palm
OMIM:300672	KCNQ2	3785	HP:0001773	Short foot
OMIM:300672	KCNQ2	3785	HP:0002650	Scoliosis
OMIM:300672	KCNQ2	3785	HP:0001182	Tapered finger
OMIM:300672	KCNQ2	3785	HP:0002521	Hypsarrhythmia
OMIM:300672	KCNQ2	3785	HP:0000463	Anteverted nares
OMIM:300672	KCNQ2	3785	HP:0000253	Progressive microcephaly
OMIM:300672	KCNQ2	3785	HP:0002883	Hyperventilation
OMIM:300672	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:300672	KCNQ2	3785	HP:0001252	Muscular hypotonia
OMIM:300672	KCNQ2	3785	HP:0001336	Myoclonus
OMIM:300672	SLC13A5	284111	HP:0002376	Developmental regression
OMIM:300672	SLC13A5	284111	HP:0200055	Small hand
OMIM:300672	SLC13A5	284111	HP:0000179	Thick lower lip vermilion
OMIM:300672	SLC13A5	284111	HP:0002020	Gastroesophageal reflux
OMIM:300672	SLC13A5	284111	HP:0000490	Deeply set eye
OMIM:300672	SLC13A5	284111	HP:0002540	Inability to walk
OMIM:300672	SLC13A5	284111	HP:0011220	Prominent forehead
OMIM:300672	SLC13A5	284111	HP:0003593	Infantile onset
OMIM:300672	SLC13A5	284111	HP:0002019	Constipation
OMIM:300672	SLC13A5	284111	HP:0002123	Generalized myoclonic seizures
OMIM:300672	SLC13A5	284111	HP:0002187	Intellectual disability, profound
OMIM:300672	SLC13A5	284111	HP:0000733	Stereotypic behavior
OMIM:300672	SLC13A5	284111	HP:0000337	Broad forehead
OMIM:300672	SLC13A5	284111	HP:0001263	Global developmental delay
OMIM:300672	SLC13A5	284111	HP:0001423	X-linked dominant inheritance
OMIM:300672	SLC13A5	284111	HP:0004279	Short palm
OMIM:300672	SLC13A5	284111	HP:0001773	Short foot
OMIM:300672	SLC13A5	284111	HP:0002650	Scoliosis
OMIM:300672	SLC13A5	284111	HP:0001182	Tapered finger
OMIM:300672	SLC13A5	284111	HP:0002521	Hypsarrhythmia
OMIM:300672	SLC13A5	284111	HP:0000463	Anteverted nares
OMIM:300672	SLC13A5	284111	HP:0000253	Progressive microcephaly
OMIM:300672	SLC13A5	284111	HP:0002883	Hyperventilation
OMIM:300672	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:300672	SLC13A5	284111	HP:0001252	Muscular hypotonia
OMIM:300672	SLC13A5	284111	HP:0001336	Myoclonus
OMIM:300672	SIK1	150094	HP:0002376	Developmental regression
OMIM:300672	SIK1	150094	HP:0200055	Small hand
OMIM:300672	SIK1	150094	HP:0000179	Thick lower lip vermilion
OMIM:300672	SIK1	150094	HP:0002020	Gastroesophageal reflux
OMIM:300672	SIK1	150094	HP:0000490	Deeply set eye
OMIM:300672	SIK1	150094	HP:0002540	Inability to walk
OMIM:300672	SIK1	150094	HP:0011220	Prominent forehead
OMIM:300672	SIK1	150094	HP:0003593	Infantile onset
OMIM:300672	SIK1	150094	HP:0002019	Constipation
OMIM:300672	SIK1	150094	HP:0002123	Generalized myoclonic seizures
OMIM:300672	SIK1	150094	HP:0002187	Intellectual disability, profound
OMIM:300672	SIK1	150094	HP:0000733	Stereotypic behavior
OMIM:300672	SIK1	150094	HP:0000337	Broad forehead
OMIM:300672	SIK1	150094	HP:0001263	Global developmental delay
OMIM:300672	SIK1	150094	HP:0001423	X-linked dominant inheritance
OMIM:300672	SIK1	150094	HP:0004279	Short palm
OMIM:300672	SIK1	150094	HP:0001773	Short foot
OMIM:300672	SIK1	150094	HP:0002650	Scoliosis
OMIM:300672	SIK1	150094	HP:0001182	Tapered finger
OMIM:300672	SIK1	150094	HP:0002521	Hypsarrhythmia
OMIM:300672	SIK1	150094	HP:0000463	Anteverted nares
OMIM:300672	SIK1	150094	HP:0000253	Progressive microcephaly
OMIM:300672	SIK1	150094	HP:0002883	Hyperventilation
OMIM:300672	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:300672	SIK1	150094	HP:0001252	Muscular hypotonia
OMIM:300672	SIK1	150094	HP:0001336	Myoclonus
OMIM:300672	PNKP	11284	HP:0002376	Developmental regression
OMIM:300672	PNKP	11284	HP:0200055	Small hand
OMIM:300672	PNKP	11284	HP:0000179	Thick lower lip vermilion
OMIM:300672	PNKP	11284	HP:0002020	Gastroesophageal reflux
OMIM:300672	PNKP	11284	HP:0000490	Deeply set eye
OMIM:300672	PNKP	11284	HP:0002540	Inability to walk
OMIM:300672	PNKP	11284	HP:0011220	Prominent forehead
OMIM:300672	PNKP	11284	HP:0003593	Infantile onset
OMIM:300672	PNKP	11284	HP:0002019	Constipation
OMIM:300672	PNKP	11284	HP:0002123	Generalized myoclonic seizures
OMIM:300672	PNKP	11284	HP:0002187	Intellectual disability, profound
OMIM:300672	PNKP	11284	HP:0000733	Stereotypic behavior
OMIM:300672	PNKP	11284	HP:0000337	Broad forehead
OMIM:300672	PNKP	11284	HP:0001263	Global developmental delay
OMIM:300672	PNKP	11284	HP:0001423	X-linked dominant inheritance
OMIM:300672	PNKP	11284	HP:0004279	Short palm
OMIM:300672	PNKP	11284	HP:0001773	Short foot
OMIM:300672	PNKP	11284	HP:0002650	Scoliosis
OMIM:300672	PNKP	11284	HP:0001182	Tapered finger
OMIM:300672	PNKP	11284	HP:0002521	Hypsarrhythmia
OMIM:300672	PNKP	11284	HP:0000463	Anteverted nares
OMIM:300672	PNKP	11284	HP:0000253	Progressive microcephaly
OMIM:300672	PNKP	11284	HP:0002883	Hyperventilation
OMIM:300672	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:300672	PNKP	11284	HP:0001252	Muscular hypotonia
OMIM:300672	PNKP	11284	HP:0001336	Myoclonus
OMIM:300672	GNAO1	2775	HP:0002376	Developmental regression
OMIM:300672	GNAO1	2775	HP:0200055	Small hand
OMIM:300672	GNAO1	2775	HP:0000179	Thick lower lip vermilion
OMIM:300672	GNAO1	2775	HP:0002020	Gastroesophageal reflux
OMIM:300672	GNAO1	2775	HP:0000490	Deeply set eye
OMIM:300672	GNAO1	2775	HP:0002540	Inability to walk
OMIM:300672	GNAO1	2775	HP:0011220	Prominent forehead
OMIM:300672	GNAO1	2775	HP:0003593	Infantile onset
OMIM:300672	GNAO1	2775	HP:0002019	Constipation
OMIM:300672	GNAO1	2775	HP:0002123	Generalized myoclonic seizures
OMIM:300672	GNAO1	2775	HP:0002187	Intellectual disability, profound
OMIM:300672	GNAO1	2775	HP:0000733	Stereotypic behavior
OMIM:300672	GNAO1	2775	HP:0000337	Broad forehead
OMIM:300672	GNAO1	2775	HP:0001263	Global developmental delay
OMIM:300672	GNAO1	2775	HP:0001423	X-linked dominant inheritance
OMIM:300672	GNAO1	2775	HP:0004279	Short palm
OMIM:300672	GNAO1	2775	HP:0001773	Short foot
OMIM:300672	GNAO1	2775	HP:0002650	Scoliosis
OMIM:300672	GNAO1	2775	HP:0001182	Tapered finger
OMIM:300672	GNAO1	2775	HP:0002521	Hypsarrhythmia
OMIM:300672	GNAO1	2775	HP:0000463	Anteverted nares
OMIM:300672	GNAO1	2775	HP:0000253	Progressive microcephaly
OMIM:300672	GNAO1	2775	HP:0002883	Hyperventilation
OMIM:300672	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:300672	GNAO1	2775	HP:0001252	Muscular hypotonia
OMIM:300672	GNAO1	2775	HP:0001336	Myoclonus
OMIM:300672	ST3GAL3	6487	HP:0002376	Developmental regression
OMIM:300672	ST3GAL3	6487	HP:0200055	Small hand
OMIM:300672	ST3GAL3	6487	HP:0000179	Thick lower lip vermilion
OMIM:300672	ST3GAL3	6487	HP:0002020	Gastroesophageal reflux
OMIM:300672	ST3GAL3	6487	HP:0000490	Deeply set eye
OMIM:300672	ST3GAL3	6487	HP:0002540	Inability to walk
OMIM:300672	ST3GAL3	6487	HP:0011220	Prominent forehead
OMIM:300672	ST3GAL3	6487	HP:0003593	Infantile onset
OMIM:300672	ST3GAL3	6487	HP:0002019	Constipation
OMIM:300672	ST3GAL3	6487	HP:0002123	Generalized myoclonic seizures
OMIM:300672	ST3GAL3	6487	HP:0002187	Intellectual disability, profound
OMIM:300672	ST3GAL3	6487	HP:0000733	Stereotypic behavior
OMIM:300672	ST3GAL3	6487	HP:0000337	Broad forehead
OMIM:300672	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:300672	ST3GAL3	6487	HP:0001423	X-linked dominant inheritance
OMIM:300672	ST3GAL3	6487	HP:0004279	Short palm
OMIM:300672	ST3GAL3	6487	HP:0001773	Short foot
OMIM:300672	ST3GAL3	6487	HP:0002650	Scoliosis
OMIM:300672	ST3GAL3	6487	HP:0001182	Tapered finger
OMIM:300672	ST3GAL3	6487	HP:0002521	Hypsarrhythmia
OMIM:300672	ST3GAL3	6487	HP:0000463	Anteverted nares
OMIM:300672	ST3GAL3	6487	HP:0000253	Progressive microcephaly
OMIM:300672	ST3GAL3	6487	HP:0002883	Hyperventilation
OMIM:300672	ST3GAL3	6487	HP:0200134	Epileptic encephalopathy
OMIM:300672	ST3GAL3	6487	HP:0001252	Muscular hypotonia
OMIM:300672	ST3GAL3	6487	HP:0001336	Myoclonus
OMIM:300672	GRIN2B	2904	HP:0002376	Developmental regression
OMIM:300672	GRIN2B	2904	HP:0200055	Small hand
OMIM:300672	GRIN2B	2904	HP:0000179	Thick lower lip vermilion
OMIM:300672	GRIN2B	2904	HP:0002020	Gastroesophageal reflux
OMIM:300672	GRIN2B	2904	HP:0000490	Deeply set eye
OMIM:300672	GRIN2B	2904	HP:0002540	Inability to walk
OMIM:300672	GRIN2B	2904	HP:0011220	Prominent forehead
OMIM:300672	GRIN2B	2904	HP:0003593	Infantile onset
OMIM:300672	GRIN2B	2904	HP:0002019	Constipation
OMIM:300672	GRIN2B	2904	HP:0002123	Generalized myoclonic seizures
OMIM:300672	GRIN2B	2904	HP:0002187	Intellectual disability, profound
OMIM:300672	GRIN2B	2904	HP:0000733	Stereotypic behavior
OMIM:300672	GRIN2B	2904	HP:0000337	Broad forehead
OMIM:300672	GRIN2B	2904	HP:0001263	Global developmental delay
OMIM:300672	GRIN2B	2904	HP:0001423	X-linked dominant inheritance
OMIM:300672	GRIN2B	2904	HP:0004279	Short palm
OMIM:300672	GRIN2B	2904	HP:0001773	Short foot
OMIM:300672	GRIN2B	2904	HP:0002650	Scoliosis
OMIM:300672	GRIN2B	2904	HP:0001182	Tapered finger
OMIM:300672	GRIN2B	2904	HP:0002521	Hypsarrhythmia
OMIM:300672	GRIN2B	2904	HP:0000463	Anteverted nares
OMIM:300672	GRIN2B	2904	HP:0000253	Progressive microcephaly
OMIM:300672	GRIN2B	2904	HP:0002883	Hyperventilation
OMIM:300672	GRIN2B	2904	HP:0200134	Epileptic encephalopathy
OMIM:300672	GRIN2B	2904	HP:0001252	Muscular hypotonia
OMIM:300672	GRIN2B	2904	HP:0001336	Myoclonus
OMIM:300672	STXBP1	6812	HP:0002376	Developmental regression
OMIM:300672	STXBP1	6812	HP:0200055	Small hand
OMIM:300672	STXBP1	6812	HP:0000179	Thick lower lip vermilion
OMIM:300672	STXBP1	6812	HP:0002020	Gastroesophageal reflux
OMIM:300672	STXBP1	6812	HP:0000490	Deeply set eye
OMIM:300672	STXBP1	6812	HP:0002540	Inability to walk
OMIM:300672	STXBP1	6812	HP:0011220	Prominent forehead
OMIM:300672	STXBP1	6812	HP:0003593	Infantile onset
OMIM:300672	STXBP1	6812	HP:0002019	Constipation
OMIM:300672	STXBP1	6812	HP:0002123	Generalized myoclonic seizures
OMIM:300672	STXBP1	6812	HP:0002187	Intellectual disability, profound
OMIM:300672	STXBP1	6812	HP:0000733	Stereotypic behavior
OMIM:300672	STXBP1	6812	HP:0000337	Broad forehead
OMIM:300672	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:300672	STXBP1	6812	HP:0001423	X-linked dominant inheritance
OMIM:300672	STXBP1	6812	HP:0004279	Short palm
OMIM:300672	STXBP1	6812	HP:0001773	Short foot
OMIM:300672	STXBP1	6812	HP:0002650	Scoliosis
OMIM:300672	STXBP1	6812	HP:0001182	Tapered finger
OMIM:300672	STXBP1	6812	HP:0002521	Hypsarrhythmia
OMIM:300672	STXBP1	6812	HP:0000463	Anteverted nares
OMIM:300672	STXBP1	6812	HP:0000253	Progressive microcephaly
OMIM:300672	STXBP1	6812	HP:0002883	Hyperventilation
OMIM:300672	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:300672	STXBP1	6812	HP:0001252	Muscular hypotonia
OMIM:300672	STXBP1	6812	HP:0001336	Myoclonus
OMIM:300672	WWOX	51741	HP:0002376	Developmental regression
OMIM:300672	WWOX	51741	HP:0200055	Small hand
OMIM:300672	WWOX	51741	HP:0000179	Thick lower lip vermilion
OMIM:300672	WWOX	51741	HP:0002020	Gastroesophageal reflux
OMIM:300672	WWOX	51741	HP:0000490	Deeply set eye
OMIM:300672	WWOX	51741	HP:0002540	Inability to walk
OMIM:300672	WWOX	51741	HP:0011220	Prominent forehead
OMIM:300672	WWOX	51741	HP:0003593	Infantile onset
OMIM:300672	WWOX	51741	HP:0002019	Constipation
OMIM:300672	WWOX	51741	HP:0002123	Generalized myoclonic seizures
OMIM:300672	WWOX	51741	HP:0002187	Intellectual disability, profound
OMIM:300672	WWOX	51741	HP:0000733	Stereotypic behavior
OMIM:300672	WWOX	51741	HP:0000337	Broad forehead
OMIM:300672	WWOX	51741	HP:0001263	Global developmental delay
OMIM:300672	WWOX	51741	HP:0001423	X-linked dominant inheritance
OMIM:300672	WWOX	51741	HP:0004279	Short palm
OMIM:300672	WWOX	51741	HP:0001773	Short foot
OMIM:300672	WWOX	51741	HP:0002650	Scoliosis
OMIM:300672	WWOX	51741	HP:0001182	Tapered finger
OMIM:300672	WWOX	51741	HP:0002521	Hypsarrhythmia
OMIM:300672	WWOX	51741	HP:0000463	Anteverted nares
OMIM:300672	WWOX	51741	HP:0000253	Progressive microcephaly
OMIM:300672	WWOX	51741	HP:0002883	Hyperventilation
OMIM:300672	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:300672	WWOX	51741	HP:0001252	Muscular hypotonia
OMIM:300672	WWOX	51741	HP:0001336	Myoclonus
OMIM:300672	PIGA	5277	HP:0002376	Developmental regression
OMIM:300672	PIGA	5277	HP:0200055	Small hand
OMIM:300672	PIGA	5277	HP:0000179	Thick lower lip vermilion
OMIM:300672	PIGA	5277	HP:0002020	Gastroesophageal reflux
OMIM:300672	PIGA	5277	HP:0000490	Deeply set eye
OMIM:300672	PIGA	5277	HP:0002540	Inability to walk
OMIM:300672	PIGA	5277	HP:0011220	Prominent forehead
OMIM:300672	PIGA	5277	HP:0003593	Infantile onset
OMIM:300672	PIGA	5277	HP:0002019	Constipation
OMIM:300672	PIGA	5277	HP:0002123	Generalized myoclonic seizures
OMIM:300672	PIGA	5277	HP:0002187	Intellectual disability, profound
OMIM:300672	PIGA	5277	HP:0000733	Stereotypic behavior
OMIM:300672	PIGA	5277	HP:0000337	Broad forehead
OMIM:300672	PIGA	5277	HP:0001263	Global developmental delay
OMIM:300672	PIGA	5277	HP:0001423	X-linked dominant inheritance
OMIM:300672	PIGA	5277	HP:0004279	Short palm
OMIM:300672	PIGA	5277	HP:0001773	Short foot
OMIM:300672	PIGA	5277	HP:0002650	Scoliosis
OMIM:300672	PIGA	5277	HP:0001182	Tapered finger
OMIM:300672	PIGA	5277	HP:0002521	Hypsarrhythmia
OMIM:300672	PIGA	5277	HP:0000463	Anteverted nares
OMIM:300672	PIGA	5277	HP:0000253	Progressive microcephaly
OMIM:300672	PIGA	5277	HP:0002883	Hyperventilation
OMIM:300672	PIGA	5277	HP:0200134	Epileptic encephalopathy
OMIM:300672	PIGA	5277	HP:0001252	Muscular hypotonia
OMIM:300672	PIGA	5277	HP:0001336	Myoclonus
OMIM:300672	DNM1	1759	HP:0002376	Developmental regression
OMIM:300672	DNM1	1759	HP:0200055	Small hand
OMIM:300672	DNM1	1759	HP:0000179	Thick lower lip vermilion
OMIM:300672	DNM1	1759	HP:0002020	Gastroesophageal reflux
OMIM:300672	DNM1	1759	HP:0000490	Deeply set eye
OMIM:300672	DNM1	1759	HP:0002540	Inability to walk
OMIM:300672	DNM1	1759	HP:0011220	Prominent forehead
OMIM:300672	DNM1	1759	HP:0003593	Infantile onset
OMIM:300672	DNM1	1759	HP:0002019	Constipation
OMIM:300672	DNM1	1759	HP:0002123	Generalized myoclonic seizures
OMIM:300672	DNM1	1759	HP:0002187	Intellectual disability, profound
OMIM:300672	DNM1	1759	HP:0000733	Stereotypic behavior
OMIM:300672	DNM1	1759	HP:0000337	Broad forehead
OMIM:300672	DNM1	1759	HP:0001263	Global developmental delay
OMIM:300672	DNM1	1759	HP:0001423	X-linked dominant inheritance
OMIM:300672	DNM1	1759	HP:0004279	Short palm
OMIM:300672	DNM1	1759	HP:0001773	Short foot
OMIM:300672	DNM1	1759	HP:0002650	Scoliosis
OMIM:300672	DNM1	1759	HP:0001182	Tapered finger
OMIM:300672	DNM1	1759	HP:0002521	Hypsarrhythmia
OMIM:300672	DNM1	1759	HP:0000463	Anteverted nares
OMIM:300672	DNM1	1759	HP:0000253	Progressive microcephaly
OMIM:300672	DNM1	1759	HP:0002883	Hyperventilation
OMIM:300672	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:300672	DNM1	1759	HP:0001252	Muscular hypotonia
OMIM:300672	DNM1	1759	HP:0001336	Myoclonus
OMIM:300672	KCNB1	3745	HP:0002376	Developmental regression
OMIM:300672	KCNB1	3745	HP:0200055	Small hand
OMIM:300672	KCNB1	3745	HP:0000179	Thick lower lip vermilion
OMIM:300672	KCNB1	3745	HP:0002020	Gastroesophageal reflux
OMIM:300672	KCNB1	3745	HP:0000490	Deeply set eye
OMIM:300672	KCNB1	3745	HP:0002540	Inability to walk
OMIM:300672	KCNB1	3745	HP:0011220	Prominent forehead
OMIM:300672	KCNB1	3745	HP:0003593	Infantile onset
OMIM:300672	KCNB1	3745	HP:0002019	Constipation
OMIM:300672	KCNB1	3745	HP:0002123	Generalized myoclonic seizures
OMIM:300672	KCNB1	3745	HP:0002187	Intellectual disability, profound
OMIM:300672	KCNB1	3745	HP:0000733	Stereotypic behavior
OMIM:300672	KCNB1	3745	HP:0000337	Broad forehead
OMIM:300672	KCNB1	3745	HP:0001263	Global developmental delay
OMIM:300672	KCNB1	3745	HP:0001423	X-linked dominant inheritance
OMIM:300672	KCNB1	3745	HP:0004279	Short palm
OMIM:300672	KCNB1	3745	HP:0001773	Short foot
OMIM:300672	KCNB1	3745	HP:0002650	Scoliosis
OMIM:300672	KCNB1	3745	HP:0001182	Tapered finger
OMIM:300672	KCNB1	3745	HP:0002521	Hypsarrhythmia
OMIM:300672	KCNB1	3745	HP:0000463	Anteverted nares
OMIM:300672	KCNB1	3745	HP:0000253	Progressive microcephaly
OMIM:300672	KCNB1	3745	HP:0002883	Hyperventilation
OMIM:300672	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:300672	KCNB1	3745	HP:0001252	Muscular hypotonia
OMIM:300672	KCNB1	3745	HP:0001336	Myoclonus
OMIM:300672	MECP2	4204	HP:0002376	Developmental regression
OMIM:300672	MECP2	4204	HP:0200055	Small hand
OMIM:300672	MECP2	4204	HP:0000179	Thick lower lip vermilion
OMIM:300672	MECP2	4204	HP:0002020	Gastroesophageal reflux
OMIM:300672	MECP2	4204	HP:0000490	Deeply set eye
OMIM:300672	MECP2	4204	HP:0002540	Inability to walk
OMIM:300672	MECP2	4204	HP:0011220	Prominent forehead
OMIM:300672	MECP2	4204	HP:0003593	Infantile onset
OMIM:300672	MECP2	4204	HP:0002019	Constipation
OMIM:300672	MECP2	4204	HP:0002123	Generalized myoclonic seizures
OMIM:300672	MECP2	4204	HP:0002187	Intellectual disability, profound
OMIM:300672	MECP2	4204	HP:0000733	Stereotypic behavior
OMIM:300672	MECP2	4204	HP:0000337	Broad forehead
OMIM:300672	MECP2	4204	HP:0001263	Global developmental delay
OMIM:300672	MECP2	4204	HP:0001423	X-linked dominant inheritance
OMIM:300672	MECP2	4204	HP:0004279	Short palm
OMIM:300672	MECP2	4204	HP:0001773	Short foot
OMIM:300672	MECP2	4204	HP:0002650	Scoliosis
OMIM:300672	MECP2	4204	HP:0001182	Tapered finger
OMIM:300672	MECP2	4204	HP:0002521	Hypsarrhythmia
OMIM:300672	MECP2	4204	HP:0000463	Anteverted nares
OMIM:300672	MECP2	4204	HP:0000253	Progressive microcephaly
OMIM:300672	MECP2	4204	HP:0002883	Hyperventilation
OMIM:300672	MECP2	4204	HP:0200134	Epileptic encephalopathy
OMIM:300672	MECP2	4204	HP:0001252	Muscular hypotonia
OMIM:300672	MECP2	4204	HP:0001336	Myoclonus
OMIM:300672	HCN1	348980	HP:0002376	Developmental regression
OMIM:300672	HCN1	348980	HP:0200055	Small hand
OMIM:300672	HCN1	348980	HP:0000179	Thick lower lip vermilion
OMIM:300672	HCN1	348980	HP:0002020	Gastroesophageal reflux
OMIM:300672	HCN1	348980	HP:0000490	Deeply set eye
OMIM:300672	HCN1	348980	HP:0002540	Inability to walk
OMIM:300672	HCN1	348980	HP:0011220	Prominent forehead
OMIM:300672	HCN1	348980	HP:0003593	Infantile onset
OMIM:300672	HCN1	348980	HP:0002019	Constipation
OMIM:300672	HCN1	348980	HP:0002123	Generalized myoclonic seizures
OMIM:300672	HCN1	348980	HP:0002187	Intellectual disability, profound
OMIM:300672	HCN1	348980	HP:0000733	Stereotypic behavior
OMIM:300672	HCN1	348980	HP:0000337	Broad forehead
OMIM:300672	HCN1	348980	HP:0001263	Global developmental delay
OMIM:300672	HCN1	348980	HP:0001423	X-linked dominant inheritance
OMIM:300672	HCN1	348980	HP:0004279	Short palm
OMIM:300672	HCN1	348980	HP:0001773	Short foot
OMIM:300672	HCN1	348980	HP:0002650	Scoliosis
OMIM:300672	HCN1	348980	HP:0001182	Tapered finger
OMIM:300672	HCN1	348980	HP:0002521	Hypsarrhythmia
OMIM:300672	HCN1	348980	HP:0000463	Anteverted nares
OMIM:300672	HCN1	348980	HP:0000253	Progressive microcephaly
OMIM:300672	HCN1	348980	HP:0002883	Hyperventilation
OMIM:300672	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:300672	HCN1	348980	HP:0001252	Muscular hypotonia
OMIM:300672	HCN1	348980	HP:0001336	Myoclonus
OMIM:300672	FOXG1	2290	HP:0002376	Developmental regression
OMIM:300672	FOXG1	2290	HP:0200055	Small hand
OMIM:300672	FOXG1	2290	HP:0000179	Thick lower lip vermilion
OMIM:300672	FOXG1	2290	HP:0002020	Gastroesophageal reflux
OMIM:300672	FOXG1	2290	HP:0000490	Deeply set eye
OMIM:300672	FOXG1	2290	HP:0002540	Inability to walk
OMIM:300672	FOXG1	2290	HP:0011220	Prominent forehead
OMIM:300672	FOXG1	2290	HP:0003593	Infantile onset
OMIM:300672	FOXG1	2290	HP:0002019	Constipation
OMIM:300672	FOXG1	2290	HP:0002123	Generalized myoclonic seizures
OMIM:300672	FOXG1	2290	HP:0002187	Intellectual disability, profound
OMIM:300672	FOXG1	2290	HP:0000733	Stereotypic behavior
OMIM:300672	FOXG1	2290	HP:0000337	Broad forehead
OMIM:300672	FOXG1	2290	HP:0001263	Global developmental delay
OMIM:300672	FOXG1	2290	HP:0001423	X-linked dominant inheritance
OMIM:300672	FOXG1	2290	HP:0004279	Short palm
OMIM:300672	FOXG1	2290	HP:0001773	Short foot
OMIM:300672	FOXG1	2290	HP:0002650	Scoliosis
OMIM:300672	FOXG1	2290	HP:0001182	Tapered finger
OMIM:300672	FOXG1	2290	HP:0002521	Hypsarrhythmia
OMIM:300672	FOXG1	2290	HP:0000463	Anteverted nares
OMIM:300672	FOXG1	2290	HP:0000253	Progressive microcephaly
OMIM:300672	FOXG1	2290	HP:0002883	Hyperventilation
OMIM:300672	FOXG1	2290	HP:0200134	Epileptic encephalopathy
OMIM:300672	FOXG1	2290	HP:0001252	Muscular hypotonia
OMIM:300672	FOXG1	2290	HP:0001336	Myoclonus
OMIM:300672	SPTAN1	6709	HP:0002376	Developmental regression
OMIM:300672	SPTAN1	6709	HP:0200055	Small hand
OMIM:300672	SPTAN1	6709	HP:0000179	Thick lower lip vermilion
OMIM:300672	SPTAN1	6709	HP:0002020	Gastroesophageal reflux
OMIM:300672	SPTAN1	6709	HP:0000490	Deeply set eye
OMIM:300672	SPTAN1	6709	HP:0002540	Inability to walk
OMIM:300672	SPTAN1	6709	HP:0011220	Prominent forehead
OMIM:300672	SPTAN1	6709	HP:0003593	Infantile onset
OMIM:300672	SPTAN1	6709	HP:0002019	Constipation
OMIM:300672	SPTAN1	6709	HP:0002123	Generalized myoclonic seizures
OMIM:300672	SPTAN1	6709	HP:0002187	Intellectual disability, profound
OMIM:300672	SPTAN1	6709	HP:0000733	Stereotypic behavior
OMIM:300672	SPTAN1	6709	HP:0000337	Broad forehead
OMIM:300672	SPTAN1	6709	HP:0001263	Global developmental delay
OMIM:300672	SPTAN1	6709	HP:0001423	X-linked dominant inheritance
OMIM:300672	SPTAN1	6709	HP:0004279	Short palm
OMIM:300672	SPTAN1	6709	HP:0001773	Short foot
OMIM:300672	SPTAN1	6709	HP:0002650	Scoliosis
OMIM:300672	SPTAN1	6709	HP:0001182	Tapered finger
OMIM:300672	SPTAN1	6709	HP:0002521	Hypsarrhythmia
OMIM:300672	SPTAN1	6709	HP:0000463	Anteverted nares
OMIM:300672	SPTAN1	6709	HP:0000253	Progressive microcephaly
OMIM:300672	SPTAN1	6709	HP:0002883	Hyperventilation
OMIM:300672	SPTAN1	6709	HP:0200134	Epileptic encephalopathy
OMIM:300672	SPTAN1	6709	HP:0001252	Muscular hypotonia
OMIM:300672	SPTAN1	6709	HP:0001336	Myoclonus
OMIM:300672	SCN2A	6326	HP:0002376	Developmental regression
OMIM:300672	SCN2A	6326	HP:0200055	Small hand
OMIM:300672	SCN2A	6326	HP:0000179	Thick lower lip vermilion
OMIM:300672	SCN2A	6326	HP:0002020	Gastroesophageal reflux
OMIM:300672	SCN2A	6326	HP:0000490	Deeply set eye
OMIM:300672	SCN2A	6326	HP:0002540	Inability to walk
OMIM:300672	SCN2A	6326	HP:0011220	Prominent forehead
OMIM:300672	SCN2A	6326	HP:0003593	Infantile onset
OMIM:300672	SCN2A	6326	HP:0002019	Constipation
OMIM:300672	SCN2A	6326	HP:0002123	Generalized myoclonic seizures
OMIM:300672	SCN2A	6326	HP:0002187	Intellectual disability, profound
OMIM:300672	SCN2A	6326	HP:0000733	Stereotypic behavior
OMIM:300672	SCN2A	6326	HP:0000337	Broad forehead
OMIM:300672	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:300672	SCN2A	6326	HP:0001423	X-linked dominant inheritance
OMIM:300672	SCN2A	6326	HP:0004279	Short palm
OMIM:300672	SCN2A	6326	HP:0001773	Short foot
OMIM:300672	SCN2A	6326	HP:0002650	Scoliosis
OMIM:300672	SCN2A	6326	HP:0001182	Tapered finger
OMIM:300672	SCN2A	6326	HP:0002521	Hypsarrhythmia
OMIM:300672	SCN2A	6326	HP:0000463	Anteverted nares
OMIM:300672	SCN2A	6326	HP:0000253	Progressive microcephaly
OMIM:300672	SCN2A	6326	HP:0002883	Hyperventilation
OMIM:300672	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:300672	SCN2A	6326	HP:0001252	Muscular hypotonia
OMIM:300672	SCN2A	6326	HP:0001336	Myoclonus
OMIM:300672	NECAP1	25977	HP:0002376	Developmental regression
OMIM:300672	NECAP1	25977	HP:0200055	Small hand
OMIM:300672	NECAP1	25977	HP:0000179	Thick lower lip vermilion
OMIM:300672	NECAP1	25977	HP:0002020	Gastroesophageal reflux
OMIM:300672	NECAP1	25977	HP:0000490	Deeply set eye
OMIM:300672	NECAP1	25977	HP:0002540	Inability to walk
OMIM:300672	NECAP1	25977	HP:0011220	Prominent forehead
OMIM:300672	NECAP1	25977	HP:0003593	Infantile onset
OMIM:300672	NECAP1	25977	HP:0002019	Constipation
OMIM:300672	NECAP1	25977	HP:0002123	Generalized myoclonic seizures
OMIM:300672	NECAP1	25977	HP:0002187	Intellectual disability, profound
OMIM:300672	NECAP1	25977	HP:0000733	Stereotypic behavior
OMIM:300672	NECAP1	25977	HP:0000337	Broad forehead
OMIM:300672	NECAP1	25977	HP:0001263	Global developmental delay
OMIM:300672	NECAP1	25977	HP:0001423	X-linked dominant inheritance
OMIM:300672	NECAP1	25977	HP:0004279	Short palm
OMIM:300672	NECAP1	25977	HP:0001773	Short foot
OMIM:300672	NECAP1	25977	HP:0002650	Scoliosis
OMIM:300672	NECAP1	25977	HP:0001182	Tapered finger
OMIM:300672	NECAP1	25977	HP:0002521	Hypsarrhythmia
OMIM:300672	NECAP1	25977	HP:0000463	Anteverted nares
OMIM:300672	NECAP1	25977	HP:0000253	Progressive microcephaly
OMIM:300672	NECAP1	25977	HP:0002883	Hyperventilation
OMIM:300672	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:300672	NECAP1	25977	HP:0001252	Muscular hypotonia
OMIM:300672	NECAP1	25977	HP:0001336	Myoclonus
OMIM:300672	ARX	170302	HP:0002376	Developmental regression
OMIM:300672	ARX	170302	HP:0200055	Small hand
OMIM:300672	ARX	170302	HP:0000179	Thick lower lip vermilion
OMIM:300672	ARX	170302	HP:0002020	Gastroesophageal reflux
OMIM:300672	ARX	170302	HP:0000490	Deeply set eye
OMIM:300672	ARX	170302	HP:0002540	Inability to walk
OMIM:300672	ARX	170302	HP:0011220	Prominent forehead
OMIM:300672	ARX	170302	HP:0003593	Infantile onset
OMIM:300672	ARX	170302	HP:0002019	Constipation
OMIM:300672	ARX	170302	HP:0002123	Generalized myoclonic seizures
OMIM:300672	ARX	170302	HP:0002187	Intellectual disability, profound
OMIM:300672	ARX	170302	HP:0000733	Stereotypic behavior
OMIM:300672	ARX	170302	HP:0000337	Broad forehead
OMIM:300672	ARX	170302	HP:0001263	Global developmental delay
OMIM:300672	ARX	170302	HP:0001423	X-linked dominant inheritance
OMIM:300672	ARX	170302	HP:0004279	Short palm
OMIM:300672	ARX	170302	HP:0001773	Short foot
OMIM:300672	ARX	170302	HP:0002650	Scoliosis
OMIM:300672	ARX	170302	HP:0001182	Tapered finger
OMIM:300672	ARX	170302	HP:0002521	Hypsarrhythmia
OMIM:300672	ARX	170302	HP:0000463	Anteverted nares
OMIM:300672	ARX	170302	HP:0000253	Progressive microcephaly
OMIM:300672	ARX	170302	HP:0002883	Hyperventilation
OMIM:300672	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:300672	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:300672	ARX	170302	HP:0001336	Myoclonus
OMIM:300672	CASK	8573	HP:0002376	Developmental regression
OMIM:300672	CASK	8573	HP:0200055	Small hand
OMIM:300672	CASK	8573	HP:0000179	Thick lower lip vermilion
OMIM:300672	CASK	8573	HP:0002020	Gastroesophageal reflux
OMIM:300672	CASK	8573	HP:0000490	Deeply set eye
OMIM:300672	CASK	8573	HP:0002540	Inability to walk
OMIM:300672	CASK	8573	HP:0011220	Prominent forehead
OMIM:300672	CASK	8573	HP:0003593	Infantile onset
OMIM:300672	CASK	8573	HP:0002019	Constipation
OMIM:300672	CASK	8573	HP:0002123	Generalized myoclonic seizures
OMIM:300672	CASK	8573	HP:0002187	Intellectual disability, profound
OMIM:300672	CASK	8573	HP:0000733	Stereotypic behavior
OMIM:300672	CASK	8573	HP:0000337	Broad forehead
OMIM:300672	CASK	8573	HP:0001263	Global developmental delay
OMIM:300672	CASK	8573	HP:0001423	X-linked dominant inheritance
OMIM:300672	CASK	8573	HP:0004279	Short palm
OMIM:300672	CASK	8573	HP:0001773	Short foot
OMIM:300672	CASK	8573	HP:0002650	Scoliosis
OMIM:300672	CASK	8573	HP:0001182	Tapered finger
OMIM:300672	CASK	8573	HP:0002521	Hypsarrhythmia
OMIM:300672	CASK	8573	HP:0000463	Anteverted nares
OMIM:300672	CASK	8573	HP:0000253	Progressive microcephaly
OMIM:300672	CASK	8573	HP:0002883	Hyperventilation
OMIM:300672	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:300672	CASK	8573	HP:0001252	Muscular hypotonia
OMIM:300672	CASK	8573	HP:0001336	Myoclonus
OMIM:300672	SCN8A	6334	HP:0002376	Developmental regression
OMIM:300672	SCN8A	6334	HP:0200055	Small hand
OMIM:300672	SCN8A	6334	HP:0000179	Thick lower lip vermilion
OMIM:300672	SCN8A	6334	HP:0002020	Gastroesophageal reflux
OMIM:300672	SCN8A	6334	HP:0000490	Deeply set eye
OMIM:300672	SCN8A	6334	HP:0002540	Inability to walk
OMIM:300672	SCN8A	6334	HP:0011220	Prominent forehead
OMIM:300672	SCN8A	6334	HP:0003593	Infantile onset
OMIM:300672	SCN8A	6334	HP:0002019	Constipation
OMIM:300672	SCN8A	6334	HP:0002123	Generalized myoclonic seizures
OMIM:300672	SCN8A	6334	HP:0002187	Intellectual disability, profound
OMIM:300672	SCN8A	6334	HP:0000733	Stereotypic behavior
OMIM:300672	SCN8A	6334	HP:0000337	Broad forehead
OMIM:300672	SCN8A	6334	HP:0001263	Global developmental delay
OMIM:300672	SCN8A	6334	HP:0001423	X-linked dominant inheritance
OMIM:300672	SCN8A	6334	HP:0004279	Short palm
OMIM:300672	SCN8A	6334	HP:0001773	Short foot
OMIM:300672	SCN8A	6334	HP:0002650	Scoliosis
OMIM:300672	SCN8A	6334	HP:0001182	Tapered finger
OMIM:300672	SCN8A	6334	HP:0002521	Hypsarrhythmia
OMIM:300672	SCN8A	6334	HP:0000463	Anteverted nares
OMIM:300672	SCN8A	6334	HP:0000253	Progressive microcephaly
OMIM:300672	SCN8A	6334	HP:0002883	Hyperventilation
OMIM:300672	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:300672	SCN8A	6334	HP:0001252	Muscular hypotonia
OMIM:300672	SCN8A	6334	HP:0001336	Myoclonus
OMIM:200990	GLI3	2737	HP:0000175	Cleft palate
OMIM:200990	GLI3	2737	HP:0004299	Hernia of the abdominal wall
OMIM:200990	GLI3	2737	HP:0009942	Duplication of thumb phalanx
OMIM:200990	GLI3	2737	HP:0000007	Autosomal recessive inheritance
OMIM:200990	GLI3	2737	HP:0001182	Tapered finger
OMIM:200990	GLI3	2737	HP:0001425	Heterogeneous
OMIM:200990	GLI3	2737	HP:0000589	Coloboma
OMIM:200990	GLI3	2737	HP:0001274	Agenesis of corpus callosum
OMIM:200990	GLI3	2737	HP:0000098	Tall stature
OMIM:200990	GLI3	2737	HP:0001162	Postaxial hand polydactyly
OMIM:200990	GLI3	2737	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:200990	GLI3	2737	HP:0000006	Autosomal dominant inheritance
OMIM:200990	GLI3	2737	HP:0000218	High palate
OMIM:200990	GLI3	2737	HP:0000028	Cryptorchidism
OMIM:200990	GLI3	2737	HP:0010576	Intracranial cystic lesion
OMIM:200990	GLI3	2737	HP:0010864	Intellectual disability, severe
OMIM:200990	GLI3	2737	HP:0000233	Thin vermilion border
OMIM:200990	GLI3	2737	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:200990	GLI3	2737	HP:0001770	Toe syndactyly
OMIM:200990	GLI3	2737	HP:0007894	Hypopigmentation of the fundus
OMIM:200990	GLI3	2737	HP:0001250	Seizures
OMIM:200990	GLI3	2737	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:200990	GLI3	2737	HP:0100627	Displacement of the external urethral meatus
OMIM:200990	GLI3	2737	HP:0000269	Prominent occiput
OMIM:200990	GLI3	2737	HP:0000639	Nystagmus
OMIM:200990	GLI3	2737	HP:0000377	Abnormality of the pinna
OMIM:200990	GLI3	2737	HP:0000486	Strabismus
OMIM:200990	GLI3	2737	HP:0001671	Abnormality of the cardiac septa
OMIM:200990	GLI3	2737	HP:0003812	Phenotypic variability
OMIM:200990	GLI3	2737	HP:0000322	Short philtrum
OMIM:200990	GLI3	2737	HP:0001510	Growth delay
OMIM:200990	GLI3	2737	HP:0000054	Micropenis
OMIM:200990	GLI3	2737	HP:0000194	Open mouth
OMIM:200990	GLI3	2737	HP:0011220	Prominent forehead
OMIM:200990	GLI3	2737	HP:0001841	Preaxial foot polydactyly
OMIM:200990	GLI3	2737	HP:0000256	Macrocephaly
OMIM:200990	GLI3	2737	HP:0001249	Intellectual disability
OMIM:200990	GLI3	2737	HP:0000337	Broad forehead
OMIM:200990	GLI3	2737	HP:0000494	Downslanted palpebral fissures
OMIM:200990	GLI3	2737	HP:0008897	Postnatal growth retardation
OMIM:200990	GLI3	2737	HP:0000648	Optic atrophy
OMIM:200990	GLI3	2737	HP:0000308	Microretrognathia
OMIM:200990	GLI3	2737	HP:0000340	Sloping forehead
OMIM:200990	GLI3	2737	HP:0000047	Hypospadias
OMIM:200990	GLI3	2737	HP:0006101	Finger syndactyly
OMIM:200990	GLI3	2737	HP:0010066	Duplication of phalanx of hallux
OMIM:200990	GLI3	2737	HP:0000889	Abnormality of the clavicle
OMIM:200990	GLI3	2737	HP:0001156	Brachydactyly syndrome
OMIM:200990	GLI3	2737	HP:0004209	Clinodactyly of the 5th finger
OMIM:200990	GLI3	2737	HP:0000319	Smooth philtrum
OMIM:200990	GLI3	2737	HP:0000431	Wide nasal bridge
OMIM:200990	GLI3	2737	HP:0000316	Hypertelorism
OMIM:200990	GLI3	2737	HP:0000365	Hearing impairment
OMIM:200990	GLI3	2737	HP:0000204	Cleft upper lip
OMIM:200990	GLI3	2737	HP:0001305	Dandy-Walker malformation
OMIM:200990	GLI3	2737	HP:0000343	Long philtrum
OMIM:200990	GLI3	2737	HP:0000685	Hypoplasia of teeth
OMIM:200990	GLI3	2737	HP:0100543	Cognitive impairment
OMIM:200990	GLI3	2737	HP:0001537	Umbilical hernia
OMIM:200990	GLI3	2737	HP:0001199	Triphalangeal thumb
OMIM:200990	GLI3	2737	HP:0000207	Triangular mouth
OMIM:200990	GLI3	2737	HP:0000776	Congenital diaphragmatic hernia
OMIM:200990	GLI3	2737	HP:0001290	Generalized hypotonia
OMIM:200990	GLI3	2737	HP:0002023	Anal atresia
OMIM:200990	GLI3	2737	HP:0000384	Preauricular skin tag
OMIM:200990	GLI3	2737	HP:0001177	Preaxial hand polydactyly
OMIM:200990	GLI3	2737	HP:0001508	Failure to thrive
OMIM:200990	GLI3	2737	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:200990	GLI3	2737	HP:0003196	Short nose
OMIM:200990	GLI3	2737	HP:0000023	Inguinal hernia
OMIM:200990	GLI3	2737	HP:0000286	Epicanthus
OMIM:200990	GLI3	2737	HP:0000143	Rectovaginal fistula
OMIM:200990	GLI3	2737	HP:0000407	Sensorineural hearing impairment
OMIM:200990	GLI3	2737	HP:0000358	Posteriorly rotated ears
OMIM:200990	GLI3	2737	HP:0002007	Frontal bossing
OMIM:200990	KIF7	374654	HP:0000175	Cleft palate
OMIM:200990	KIF7	374654	HP:0004299	Hernia of the abdominal wall
OMIM:200990	KIF7	374654	HP:0009942	Duplication of thumb phalanx
OMIM:200990	KIF7	374654	HP:0000007	Autosomal recessive inheritance
OMIM:200990	KIF7	374654	HP:0001182	Tapered finger
OMIM:200990	KIF7	374654	HP:0001425	Heterogeneous
OMIM:200990	KIF7	374654	HP:0000589	Coloboma
OMIM:200990	KIF7	374654	HP:0001274	Agenesis of corpus callosum
OMIM:200990	KIF7	374654	HP:0000098	Tall stature
OMIM:200990	KIF7	374654	HP:0001162	Postaxial hand polydactyly
OMIM:200990	KIF7	374654	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:200990	KIF7	374654	HP:0000006	Autosomal dominant inheritance
OMIM:200990	KIF7	374654	HP:0000218	High palate
OMIM:200990	KIF7	374654	HP:0000028	Cryptorchidism
OMIM:200990	KIF7	374654	HP:0010576	Intracranial cystic lesion
OMIM:200990	KIF7	374654	HP:0010864	Intellectual disability, severe
OMIM:200990	KIF7	374654	HP:0000233	Thin vermilion border
OMIM:200990	KIF7	374654	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:200990	KIF7	374654	HP:0001770	Toe syndactyly
OMIM:200990	KIF7	374654	HP:0007894	Hypopigmentation of the fundus
OMIM:200990	KIF7	374654	HP:0001250	Seizures
OMIM:200990	KIF7	374654	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:200990	KIF7	374654	HP:0100627	Displacement of the external urethral meatus
OMIM:200990	KIF7	374654	HP:0000269	Prominent occiput
OMIM:200990	KIF7	374654	HP:0000639	Nystagmus
OMIM:200990	KIF7	374654	HP:0000377	Abnormality of the pinna
OMIM:200990	KIF7	374654	HP:0000486	Strabismus
OMIM:200990	KIF7	374654	HP:0001671	Abnormality of the cardiac septa
OMIM:200990	KIF7	374654	HP:0003812	Phenotypic variability
OMIM:200990	KIF7	374654	HP:0000322	Short philtrum
OMIM:200990	KIF7	374654	HP:0001510	Growth delay
OMIM:200990	KIF7	374654	HP:0000054	Micropenis
OMIM:200990	KIF7	374654	HP:0000194	Open mouth
OMIM:200990	KIF7	374654	HP:0011220	Prominent forehead
OMIM:200990	KIF7	374654	HP:0001841	Preaxial foot polydactyly
OMIM:200990	KIF7	374654	HP:0000256	Macrocephaly
OMIM:200990	KIF7	374654	HP:0001249	Intellectual disability
OMIM:200990	KIF7	374654	HP:0000337	Broad forehead
OMIM:200990	KIF7	374654	HP:0000494	Downslanted palpebral fissures
OMIM:200990	KIF7	374654	HP:0008897	Postnatal growth retardation
OMIM:200990	KIF7	374654	HP:0000648	Optic atrophy
OMIM:200990	KIF7	374654	HP:0000308	Microretrognathia
OMIM:200990	KIF7	374654	HP:0000340	Sloping forehead
OMIM:200990	KIF7	374654	HP:0000047	Hypospadias
OMIM:200990	KIF7	374654	HP:0006101	Finger syndactyly
OMIM:200990	KIF7	374654	HP:0010066	Duplication of phalanx of hallux
OMIM:200990	KIF7	374654	HP:0000889	Abnormality of the clavicle
OMIM:200990	KIF7	374654	HP:0001156	Brachydactyly syndrome
OMIM:200990	KIF7	374654	HP:0004209	Clinodactyly of the 5th finger
OMIM:200990	KIF7	374654	HP:0000319	Smooth philtrum
OMIM:200990	KIF7	374654	HP:0000431	Wide nasal bridge
OMIM:200990	KIF7	374654	HP:0000316	Hypertelorism
OMIM:200990	KIF7	374654	HP:0000365	Hearing impairment
OMIM:200990	KIF7	374654	HP:0000204	Cleft upper lip
OMIM:200990	KIF7	374654	HP:0001305	Dandy-Walker malformation
OMIM:200990	KIF7	374654	HP:0000343	Long philtrum
OMIM:200990	KIF7	374654	HP:0000685	Hypoplasia of teeth
OMIM:200990	KIF7	374654	HP:0100543	Cognitive impairment
OMIM:200990	KIF7	374654	HP:0001537	Umbilical hernia
OMIM:200990	KIF7	374654	HP:0001199	Triphalangeal thumb
OMIM:200990	KIF7	374654	HP:0000207	Triangular mouth
OMIM:200990	KIF7	374654	HP:0000776	Congenital diaphragmatic hernia
OMIM:200990	KIF7	374654	HP:0001290	Generalized hypotonia
OMIM:200990	KIF7	374654	HP:0002023	Anal atresia
OMIM:200990	KIF7	374654	HP:0000384	Preauricular skin tag
OMIM:200990	KIF7	374654	HP:0001177	Preaxial hand polydactyly
OMIM:200990	KIF7	374654	HP:0001508	Failure to thrive
OMIM:200990	KIF7	374654	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:200990	KIF7	374654	HP:0003196	Short nose
OMIM:200990	KIF7	374654	HP:0000023	Inguinal hernia
OMIM:200990	KIF7	374654	HP:0000286	Epicanthus
OMIM:200990	KIF7	374654	HP:0000143	Rectovaginal fistula
OMIM:200990	KIF7	374654	HP:0000407	Sensorineural hearing impairment
OMIM:200990	KIF7	374654	HP:0000358	Posteriorly rotated ears
OMIM:200990	KIF7	374654	HP:0002007	Frontal bossing
ORPHANET:3286	CALM1	801	HP:0002321	Vertigo
ORPHANET:3286	CALM1	801	HP:0001645	Sudden cardiac death
ORPHANET:3286	CALM2	805	HP:0002321	Vertigo
ORPHANET:3286	CALM2	805	HP:0001645	Sudden cardiac death
ORPHANET:3286	RYR2	6262	HP:0002321	Vertigo
ORPHANET:3286	RYR2	6262	HP:0001645	Sudden cardiac death
ORPHANET:3286	CALM3	808	HP:0002321	Vertigo
ORPHANET:3286	CALM3	808	HP:0001645	Sudden cardiac death
ORPHANET:3286	TRDN	10345	HP:0002321	Vertigo
ORPHANET:3286	TRDN	10345	HP:0001645	Sudden cardiac death
ORPHANET:3286	CASQ2	845	HP:0002321	Vertigo
ORPHANET:3286	CASQ2	845	HP:0001645	Sudden cardiac death
OMIM:610246	AFG3L2	10939	HP:0001332	Dystonia
OMIM:610246	AFG3L2	10939	HP:0001260	Dysarthria
OMIM:610246	AFG3L2	10939	HP:0000597	Ophthalmoparesis
OMIM:610246	AFG3L2	10939	HP:0003487	Babinski sign
OMIM:610246	AFG3L2	10939	HP:0001257	Spasticity
OMIM:610246	AFG3L2	10939	HP:0002066	Gait ataxia
OMIM:610246	AFG3L2	10939	HP:0001300	Parkinsonism
OMIM:610246	AFG3L2	10939	HP:0000640	Gaze-evoked nystagmus
OMIM:610246	AFG3L2	10939	HP:0001272	Cerebellar atrophy
OMIM:610246	AFG3L2	10939	HP:0002070	Limb ataxia
OMIM:610246	AFG3L2	10939	HP:0003677	Slow progression
OMIM:610246	AFG3L2	10939	HP:0000006	Autosomal dominant inheritance
OMIM:610246	AFG3L2	10939	HP:0000508	Ptosis
OMIM:102200	AIP	9049	HP:0002893	Pituitary adenoma
OMIM:102200	AIP	9049	HP:0011760	Pituitary growth hormone cell adenoma
OMIM:102200	AIP	9049	HP:0100829	Galactorrhea
OMIM:102200	AIP	9049	HP:0001638	Cardiomyopathy
OMIM:102200	AIP	9049	HP:0000280	Coarse facial features
OMIM:102200	AIP	9049	HP:0030269	Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}
OMIM:102200	AIP	9049	HP:0001712	Left ventricular hypertrophy
OMIM:102200	AIP	9049	HP:0000845	Growth hormone excess
OMIM:102200	AIP	9049	HP:0000006	Autosomal dominant inheritance
OMIM:102200	AIP	9049	HP:0000822	Hypertension
OMIM:102200	AIP	9049	HP:0000870	Prolactin excess
OMIM:102200	AIP	9049	HP:0001428	Somatic mutation
OMIM:102200	AIP	9049	HP:0000858	Menstrual irregularities
OMIM:102200	AIP	9049	HP:0006767	Pituitary prolactin cell adenoma
OMIM:102200	GNAS	2778	HP:0002893	Pituitary adenoma
OMIM:102200	GNAS	2778	HP:0011760	Pituitary growth hormone cell adenoma
OMIM:102200	GNAS	2778	HP:0100829	Galactorrhea
OMIM:102200	GNAS	2778	HP:0001638	Cardiomyopathy
OMIM:102200	GNAS	2778	HP:0000280	Coarse facial features
OMIM:102200	GNAS	2778	HP:0030269	Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}
OMIM:102200	GNAS	2778	HP:0001712	Left ventricular hypertrophy
OMIM:102200	GNAS	2778	HP:0000845	Growth hormone excess
OMIM:102200	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:102200	GNAS	2778	HP:0000822	Hypertension
OMIM:102200	GNAS	2778	HP:0000870	Prolactin excess
OMIM:102200	GNAS	2778	HP:0001428	Somatic mutation
OMIM:102200	GNAS	2778	HP:0000858	Menstrual irregularities
OMIM:102200	GNAS	2778	HP:0006767	Pituitary prolactin cell adenoma
OMIM:102200	GPR101	83550	HP:0002893	Pituitary adenoma
OMIM:102200	GPR101	83550	HP:0011760	Pituitary growth hormone cell adenoma
OMIM:102200	GPR101	83550	HP:0100829	Galactorrhea
OMIM:102200	GPR101	83550	HP:0001638	Cardiomyopathy
OMIM:102200	GPR101	83550	HP:0000280	Coarse facial features
OMIM:102200	GPR101	83550	HP:0030269	Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}
OMIM:102200	GPR101	83550	HP:0001712	Left ventricular hypertrophy
OMIM:102200	GPR101	83550	HP:0000845	Growth hormone excess
OMIM:102200	GPR101	83550	HP:0000006	Autosomal dominant inheritance
OMIM:102200	GPR101	83550	HP:0000822	Hypertension
OMIM:102200	GPR101	83550	HP:0000870	Prolactin excess
OMIM:102200	GPR101	83550	HP:0001428	Somatic mutation
OMIM:102200	GPR101	83550	HP:0000858	Menstrual irregularities
OMIM:102200	GPR101	83550	HP:0006767	Pituitary prolactin cell adenoma
OMIM:278780	ERCC1	2067	HP:0001761	Pes cavus
OMIM:278780	ERCC1	2067	HP:0000252	Microcephaly
OMIM:278780	ERCC1	2067	HP:0001257	Spasticity
OMIM:278780	ERCC1	2067	HP:0001251	Ataxia
OMIM:278780	ERCC1	2067	HP:0001337	Tremor
OMIM:278780	ERCC1	2067	HP:0001510	Growth delay
OMIM:278780	ERCC1	2067	HP:0000007	Autosomal recessive inheritance
OMIM:278780	ERCC1	2067	HP:0000518	Cataract
OMIM:278780	ERCC1	2067	HP:0000568	Microphthalmia
OMIM:278780	ERCC1	2067	HP:0000992	Cutaneous photosensitivity
OMIM:278780	ERCC2	2068	HP:0001761	Pes cavus
OMIM:278780	ERCC2	2068	HP:0000252	Microcephaly
OMIM:278780	ERCC2	2068	HP:0001257	Spasticity
OMIM:278780	ERCC2	2068	HP:0001251	Ataxia
OMIM:278780	ERCC2	2068	HP:0001337	Tremor
OMIM:278780	ERCC2	2068	HP:0001510	Growth delay
OMIM:278780	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:278780	ERCC2	2068	HP:0000518	Cataract
OMIM:278780	ERCC2	2068	HP:0000568	Microphthalmia
OMIM:278780	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
OMIM:278780	ERCC5	2073	HP:0001761	Pes cavus
OMIM:278780	ERCC5	2073	HP:0000252	Microcephaly
OMIM:278780	ERCC5	2073	HP:0001257	Spasticity
OMIM:278780	ERCC5	2073	HP:0001251	Ataxia
OMIM:278780	ERCC5	2073	HP:0001337	Tremor
OMIM:278780	ERCC5	2073	HP:0001510	Growth delay
OMIM:278780	ERCC5	2073	HP:0000007	Autosomal recessive inheritance
OMIM:278780	ERCC5	2073	HP:0000518	Cataract
OMIM:278780	ERCC5	2073	HP:0000568	Microphthalmia
OMIM:278780	ERCC5	2073	HP:0000992	Cutaneous photosensitivity
OMIM:278780	ERCC6	2074	HP:0001761	Pes cavus
OMIM:278780	ERCC6	2074	HP:0000252	Microcephaly
OMIM:278780	ERCC6	2074	HP:0001257	Spasticity
OMIM:278780	ERCC6	2074	HP:0001251	Ataxia
OMIM:278780	ERCC6	2074	HP:0001337	Tremor
OMIM:278780	ERCC6	2074	HP:0001510	Growth delay
OMIM:278780	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:278780	ERCC6	2074	HP:0000518	Cataract
OMIM:278780	ERCC6	2074	HP:0000568	Microphthalmia
OMIM:278780	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:615663	RAB3GAP1	22930	HP:0000028	Cryptorchidism
OMIM:615663	RAB3GAP1	22930	HP:0005484	Postnatal microcephaly
OMIM:615663	RAB3GAP1	22930	HP:0000007	Autosomal recessive inheritance
OMIM:615663	RAB3GAP1	22930	HP:0000160	Narrow mouth
OMIM:615663	RAB3GAP1	22930	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615663	RAB3GAP1	22930	HP:0000501	Glaucoma
OMIM:615663	RAB3GAP1	22930	HP:0001007	Hirsutism
OMIM:615663	RAB3GAP1	22930	HP:0000046	Scrotal hypoplasia
OMIM:615663	RAB3GAP1	22930	HP:0001250	Seizures
OMIM:615663	RAB3GAP1	22930	HP:0010864	Intellectual disability, severe
OMIM:615663	RAB3GAP1	22930	HP:0000248	Brachycephaly
OMIM:615663	RAB3GAP1	22930	HP:0000054	Micropenis
OMIM:615663	RAB3GAP1	22930	HP:0000519	Congenital cataract
OMIM:615663	RAB3GAP1	22930	HP:0000294	Low anterior hairline
OMIM:615663	RAB3GAP1	22930	HP:0002120	Cerebral cortical atrophy
OMIM:615663	RAB3GAP1	22930	HP:0000648	Optic atrophy
OMIM:615663	RAB3GAP1	22930	HP:0007095	Frontoparietal polymicrogyria
OMIM:615663	RAB3GAP1	22930	HP:0000431	Wide nasal bridge
OMIM:615663	RAB3GAP1	22930	HP:0000508	Ptosis
OMIM:615663	RAB3GAP1	22930	HP:0008734	Decreased testicular size
OMIM:615663	RAB3GAP1	22930	HP:0000490	Deeply set eye
OMIM:615663	RAB3GAP1	22930	HP:0000482	Microcornea
OMIM:615663	RAB3GAP1	22930	HP:0001371	Flexion contracture
OMIM:615663	RAB3GAP1	22930	HP:0000568	Microphthalmia
OMIM:615663	RAB3GAP1	22930	HP:0001272	Cerebellar atrophy
OMIM:615663	RAB3GAP1	22930	HP:0002510	Spastic tetraplegia
OMIM:615663	RAB18	22931	HP:0000028	Cryptorchidism
OMIM:615663	RAB18	22931	HP:0005484	Postnatal microcephaly
OMIM:615663	RAB18	22931	HP:0000007	Autosomal recessive inheritance
OMIM:615663	RAB18	22931	HP:0000160	Narrow mouth
OMIM:615663	RAB18	22931	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615663	RAB18	22931	HP:0000501	Glaucoma
OMIM:615663	RAB18	22931	HP:0001007	Hirsutism
OMIM:615663	RAB18	22931	HP:0000046	Scrotal hypoplasia
OMIM:615663	RAB18	22931	HP:0001250	Seizures
OMIM:615663	RAB18	22931	HP:0010864	Intellectual disability, severe
OMIM:615663	RAB18	22931	HP:0000248	Brachycephaly
OMIM:615663	RAB18	22931	HP:0000054	Micropenis
OMIM:615663	RAB18	22931	HP:0000519	Congenital cataract
OMIM:615663	RAB18	22931	HP:0000294	Low anterior hairline
OMIM:615663	RAB18	22931	HP:0002120	Cerebral cortical atrophy
OMIM:615663	RAB18	22931	HP:0000648	Optic atrophy
OMIM:615663	RAB18	22931	HP:0007095	Frontoparietal polymicrogyria
OMIM:615663	RAB18	22931	HP:0000431	Wide nasal bridge
OMIM:615663	RAB18	22931	HP:0000508	Ptosis
OMIM:615663	RAB18	22931	HP:0008734	Decreased testicular size
OMIM:615663	RAB18	22931	HP:0000490	Deeply set eye
OMIM:615663	RAB18	22931	HP:0000482	Microcornea
OMIM:615663	RAB18	22931	HP:0001371	Flexion contracture
OMIM:615663	RAB18	22931	HP:0000568	Microphthalmia
OMIM:615663	RAB18	22931	HP:0001272	Cerebellar atrophy
OMIM:615663	RAB18	22931	HP:0002510	Spastic tetraplegia
OMIM:615663	RAB3GAP2	25782	HP:0000028	Cryptorchidism
OMIM:615663	RAB3GAP2	25782	HP:0005484	Postnatal microcephaly
OMIM:615663	RAB3GAP2	25782	HP:0000007	Autosomal recessive inheritance
OMIM:615663	RAB3GAP2	25782	HP:0000160	Narrow mouth
OMIM:615663	RAB3GAP2	25782	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615663	RAB3GAP2	25782	HP:0000501	Glaucoma
OMIM:615663	RAB3GAP2	25782	HP:0001007	Hirsutism
OMIM:615663	RAB3GAP2	25782	HP:0000046	Scrotal hypoplasia
OMIM:615663	RAB3GAP2	25782	HP:0001250	Seizures
OMIM:615663	RAB3GAP2	25782	HP:0010864	Intellectual disability, severe
OMIM:615663	RAB3GAP2	25782	HP:0000248	Brachycephaly
OMIM:615663	RAB3GAP2	25782	HP:0000054	Micropenis
OMIM:615663	RAB3GAP2	25782	HP:0000519	Congenital cataract
OMIM:615663	RAB3GAP2	25782	HP:0000294	Low anterior hairline
OMIM:615663	RAB3GAP2	25782	HP:0002120	Cerebral cortical atrophy
OMIM:615663	RAB3GAP2	25782	HP:0000648	Optic atrophy
OMIM:615663	RAB3GAP2	25782	HP:0007095	Frontoparietal polymicrogyria
OMIM:615663	RAB3GAP2	25782	HP:0000431	Wide nasal bridge
OMIM:615663	RAB3GAP2	25782	HP:0000508	Ptosis
OMIM:615663	RAB3GAP2	25782	HP:0008734	Decreased testicular size
OMIM:615663	RAB3GAP2	25782	HP:0000490	Deeply set eye
OMIM:615663	RAB3GAP2	25782	HP:0000482	Microcornea
OMIM:615663	RAB3GAP2	25782	HP:0001371	Flexion contracture
OMIM:615663	RAB3GAP2	25782	HP:0000568	Microphthalmia
OMIM:615663	RAB3GAP2	25782	HP:0001272	Cerebellar atrophy
OMIM:615663	RAB3GAP2	25782	HP:0002510	Spastic tetraplegia
OMIM:615663	TBC1D20	128637	HP:0000028	Cryptorchidism
OMIM:615663	TBC1D20	128637	HP:0005484	Postnatal microcephaly
OMIM:615663	TBC1D20	128637	HP:0000007	Autosomal recessive inheritance
OMIM:615663	TBC1D20	128637	HP:0000160	Narrow mouth
OMIM:615663	TBC1D20	128637	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615663	TBC1D20	128637	HP:0000501	Glaucoma
OMIM:615663	TBC1D20	128637	HP:0001007	Hirsutism
OMIM:615663	TBC1D20	128637	HP:0000046	Scrotal hypoplasia
OMIM:615663	TBC1D20	128637	HP:0001250	Seizures
OMIM:615663	TBC1D20	128637	HP:0010864	Intellectual disability, severe
OMIM:615663	TBC1D20	128637	HP:0000248	Brachycephaly
OMIM:615663	TBC1D20	128637	HP:0000054	Micropenis
OMIM:615663	TBC1D20	128637	HP:0000519	Congenital cataract
OMIM:615663	TBC1D20	128637	HP:0000294	Low anterior hairline
OMIM:615663	TBC1D20	128637	HP:0002120	Cerebral cortical atrophy
OMIM:615663	TBC1D20	128637	HP:0000648	Optic atrophy
OMIM:615663	TBC1D20	128637	HP:0007095	Frontoparietal polymicrogyria
OMIM:615663	TBC1D20	128637	HP:0000431	Wide nasal bridge
OMIM:615663	TBC1D20	128637	HP:0000508	Ptosis
OMIM:615663	TBC1D20	128637	HP:0008734	Decreased testicular size
OMIM:615663	TBC1D20	128637	HP:0000490	Deeply set eye
OMIM:615663	TBC1D20	128637	HP:0000482	Microcornea
OMIM:615663	TBC1D20	128637	HP:0001371	Flexion contracture
OMIM:615663	TBC1D20	128637	HP:0000568	Microphthalmia
OMIM:615663	TBC1D20	128637	HP:0001272	Cerebellar atrophy
OMIM:615663	TBC1D20	128637	HP:0002510	Spastic tetraplegia
OMIM:182000	PIK3CA	5290	HP:0200043	Verrucae
OMIM:182000	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:607004	GDF5	8200	HP:0005819	Short middle phalanx of finger
OMIM:607004	GDF5	8200	HP:0030084	Clinodactyly
OMIM:607004	GDF5	8200	HP:0001425	Heterogeneous
OMIM:607004	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:607004	GDF5	8200	HP:0009466	Radial deviation of finger
OMIM:607004	GDF5	8200	HP:0009882	Short distal phalanx of finger
OMIM:607004	GDF5	8200	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:607004	GDF5	8200	HP:0004322	Short stature
OMIM:607004	IHH	3549	HP:0005819	Short middle phalanx of finger
OMIM:607004	IHH	3549	HP:0030084	Clinodactyly
OMIM:607004	IHH	3549	HP:0001425	Heterogeneous
OMIM:607004	IHH	3549	HP:0000006	Autosomal dominant inheritance
OMIM:607004	IHH	3549	HP:0009466	Radial deviation of finger
OMIM:607004	IHH	3549	HP:0009882	Short distal phalanx of finger
OMIM:607004	IHH	3549	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:607004	IHH	3549	HP:0004322	Short stature
OMIM:610921	ABCA3	21	HP:0002789	Tachypnea
OMIM:610921	ABCA3	21	HP:0001425	Heterogeneous
OMIM:610921	ABCA3	21	HP:0002098	Respiratory distress
OMIM:610921	ABCA3	21	HP:0002104	Apnea
OMIM:610921	ABCA3	21	HP:0003577	Congenital onset
OMIM:610921	ABCA3	21	HP:0000007	Autosomal recessive inheritance
OMIM:610921	ABCA3	21	HP:0002878	Respiratory failure
OMIM:610921	ABCA3	21	HP:0001508	Failure to thrive
OMIM:105400	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	TREM2	54209	HP:0001425	Heterogeneous
OMIM:105400	TREM2	54209	HP:0010535	Sleep apnea
OMIM:105400	TREM2	54209	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	TREM2	54209	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	TREM2	54209	HP:0007024	Pseudobulbar paralysis
OMIM:105400	TREM2	54209	HP:0003394	Muscle cramps
OMIM:105400	TREM2	54209	HP:0001324	Muscle weakness
OMIM:105400	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:105400	TREM2	54209	HP:0003202	Skeletal muscle atrophy
OMIM:105400	TREM2	54209	HP:0001347	Hyperreflexia
OMIM:105400	TREM2	54209	HP:0002380	Fasciculations
OMIM:105400	TREM2	54209	HP:0000007	Autosomal recessive inheritance
OMIM:105400	TREM2	54209	HP:0001257	Spasticity
OMIM:105400	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	VAPB	9217	HP:0001425	Heterogeneous
OMIM:105400	VAPB	9217	HP:0010535	Sleep apnea
OMIM:105400	VAPB	9217	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	VAPB	9217	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	VAPB	9217	HP:0007024	Pseudobulbar paralysis
OMIM:105400	VAPB	9217	HP:0003394	Muscle cramps
OMIM:105400	VAPB	9217	HP:0001324	Muscle weakness
OMIM:105400	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:105400	VAPB	9217	HP:0003202	Skeletal muscle atrophy
OMIM:105400	VAPB	9217	HP:0001347	Hyperreflexia
OMIM:105400	VAPB	9217	HP:0002380	Fasciculations
OMIM:105400	VAPB	9217	HP:0000007	Autosomal recessive inheritance
OMIM:105400	VAPB	9217	HP:0001257	Spasticity
OMIM:105400	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	PON1	5444	HP:0001425	Heterogeneous
OMIM:105400	PON1	5444	HP:0010535	Sleep apnea
OMIM:105400	PON1	5444	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	PON1	5444	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	PON1	5444	HP:0007024	Pseudobulbar paralysis
OMIM:105400	PON1	5444	HP:0003394	Muscle cramps
OMIM:105400	PON1	5444	HP:0001324	Muscle weakness
OMIM:105400	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:105400	PON1	5444	HP:0003202	Skeletal muscle atrophy
OMIM:105400	PON1	5444	HP:0001347	Hyperreflexia
OMIM:105400	PON1	5444	HP:0002380	Fasciculations
OMIM:105400	PON1	5444	HP:0000007	Autosomal recessive inheritance
OMIM:105400	PON1	5444	HP:0001257	Spasticity
OMIM:105400	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	PON2	5445	HP:0001425	Heterogeneous
OMIM:105400	PON2	5445	HP:0010535	Sleep apnea
OMIM:105400	PON2	5445	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	PON2	5445	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	PON2	5445	HP:0007024	Pseudobulbar paralysis
OMIM:105400	PON2	5445	HP:0003394	Muscle cramps
OMIM:105400	PON2	5445	HP:0001324	Muscle weakness
OMIM:105400	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:105400	PON2	5445	HP:0003202	Skeletal muscle atrophy
OMIM:105400	PON2	5445	HP:0001347	Hyperreflexia
OMIM:105400	PON2	5445	HP:0002380	Fasciculations
OMIM:105400	PON2	5445	HP:0000007	Autosomal recessive inheritance
OMIM:105400	PON2	5445	HP:0001257	Spasticity
OMIM:105400	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	PON3	5446	HP:0001425	Heterogeneous
OMIM:105400	PON3	5446	HP:0010535	Sleep apnea
OMIM:105400	PON3	5446	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	PON3	5446	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	PON3	5446	HP:0007024	Pseudobulbar paralysis
OMIM:105400	PON3	5446	HP:0003394	Muscle cramps
OMIM:105400	PON3	5446	HP:0001324	Muscle weakness
OMIM:105400	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:105400	PON3	5446	HP:0003202	Skeletal muscle atrophy
OMIM:105400	PON3	5446	HP:0001347	Hyperreflexia
OMIM:105400	PON3	5446	HP:0002380	Fasciculations
OMIM:105400	PON3	5446	HP:0000007	Autosomal recessive inheritance
OMIM:105400	PON3	5446	HP:0001257	Spasticity
OMIM:105400	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	NEFH	4744	HP:0001425	Heterogeneous
OMIM:105400	NEFH	4744	HP:0010535	Sleep apnea
OMIM:105400	NEFH	4744	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	NEFH	4744	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	NEFH	4744	HP:0007024	Pseudobulbar paralysis
OMIM:105400	NEFH	4744	HP:0003394	Muscle cramps
OMIM:105400	NEFH	4744	HP:0001324	Muscle weakness
OMIM:105400	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:105400	NEFH	4744	HP:0003202	Skeletal muscle atrophy
OMIM:105400	NEFH	4744	HP:0001347	Hyperreflexia
OMIM:105400	NEFH	4744	HP:0002380	Fasciculations
OMIM:105400	NEFH	4744	HP:0000007	Autosomal recessive inheritance
OMIM:105400	NEFH	4744	HP:0001257	Spasticity
OMIM:105400	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	DAO	1610	HP:0001425	Heterogeneous
OMIM:105400	DAO	1610	HP:0010535	Sleep apnea
OMIM:105400	DAO	1610	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	DAO	1610	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	DAO	1610	HP:0007024	Pseudobulbar paralysis
OMIM:105400	DAO	1610	HP:0003394	Muscle cramps
OMIM:105400	DAO	1610	HP:0001324	Muscle weakness
OMIM:105400	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:105400	DAO	1610	HP:0003202	Skeletal muscle atrophy
OMIM:105400	DAO	1610	HP:0001347	Hyperreflexia
OMIM:105400	DAO	1610	HP:0002380	Fasciculations
OMIM:105400	DAO	1610	HP:0000007	Autosomal recessive inheritance
OMIM:105400	DAO	1610	HP:0001257	Spasticity
OMIM:105400	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	TARDBP	23435	HP:0001425	Heterogeneous
OMIM:105400	TARDBP	23435	HP:0010535	Sleep apnea
OMIM:105400	TARDBP	23435	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	TARDBP	23435	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	TARDBP	23435	HP:0007024	Pseudobulbar paralysis
OMIM:105400	TARDBP	23435	HP:0003394	Muscle cramps
OMIM:105400	TARDBP	23435	HP:0001324	Muscle weakness
OMIM:105400	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:105400	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:105400	TARDBP	23435	HP:0001347	Hyperreflexia
OMIM:105400	TARDBP	23435	HP:0002380	Fasciculations
OMIM:105400	TARDBP	23435	HP:0000007	Autosomal recessive inheritance
OMIM:105400	TARDBP	23435	HP:0001257	Spasticity
OMIM:105400	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	PPARGC1A	10891	HP:0001425	Heterogeneous
OMIM:105400	PPARGC1A	10891	HP:0010535	Sleep apnea
OMIM:105400	PPARGC1A	10891	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	PPARGC1A	10891	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	PPARGC1A	10891	HP:0007024	Pseudobulbar paralysis
OMIM:105400	PPARGC1A	10891	HP:0003394	Muscle cramps
OMIM:105400	PPARGC1A	10891	HP:0001324	Muscle weakness
OMIM:105400	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:105400	PPARGC1A	10891	HP:0003202	Skeletal muscle atrophy
OMIM:105400	PPARGC1A	10891	HP:0001347	Hyperreflexia
OMIM:105400	PPARGC1A	10891	HP:0002380	Fasciculations
OMIM:105400	PPARGC1A	10891	HP:0000007	Autosomal recessive inheritance
OMIM:105400	PPARGC1A	10891	HP:0001257	Spasticity
OMIM:105400	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	ERBB4	2066	HP:0001425	Heterogeneous
OMIM:105400	ERBB4	2066	HP:0010535	Sleep apnea
OMIM:105400	ERBB4	2066	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	ERBB4	2066	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	ERBB4	2066	HP:0007024	Pseudobulbar paralysis
OMIM:105400	ERBB4	2066	HP:0003394	Muscle cramps
OMIM:105400	ERBB4	2066	HP:0001324	Muscle weakness
OMIM:105400	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:105400	ERBB4	2066	HP:0003202	Skeletal muscle atrophy
OMIM:105400	ERBB4	2066	HP:0001347	Hyperreflexia
OMIM:105400	ERBB4	2066	HP:0002380	Fasciculations
OMIM:105400	ERBB4	2066	HP:0000007	Autosomal recessive inheritance
OMIM:105400	ERBB4	2066	HP:0001257	Spasticity
OMIM:105400	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	CHCHD10	400916	HP:0001425	Heterogeneous
OMIM:105400	CHCHD10	400916	HP:0010535	Sleep apnea
OMIM:105400	CHCHD10	400916	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	CHCHD10	400916	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	CHCHD10	400916	HP:0007024	Pseudobulbar paralysis
OMIM:105400	CHCHD10	400916	HP:0003394	Muscle cramps
OMIM:105400	CHCHD10	400916	HP:0001324	Muscle weakness
OMIM:105400	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:105400	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
OMIM:105400	CHCHD10	400916	HP:0001347	Hyperreflexia
OMIM:105400	CHCHD10	400916	HP:0002380	Fasciculations
OMIM:105400	CHCHD10	400916	HP:0000007	Autosomal recessive inheritance
OMIM:105400	CHCHD10	400916	HP:0001257	Spasticity
OMIM:105400	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	OPTN	10133	HP:0001425	Heterogeneous
OMIM:105400	OPTN	10133	HP:0010535	Sleep apnea
OMIM:105400	OPTN	10133	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	OPTN	10133	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	OPTN	10133	HP:0007024	Pseudobulbar paralysis
OMIM:105400	OPTN	10133	HP:0003394	Muscle cramps
OMIM:105400	OPTN	10133	HP:0001324	Muscle weakness
OMIM:105400	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:105400	OPTN	10133	HP:0003202	Skeletal muscle atrophy
OMIM:105400	OPTN	10133	HP:0001347	Hyperreflexia
OMIM:105400	OPTN	10133	HP:0002380	Fasciculations
OMIM:105400	OPTN	10133	HP:0000007	Autosomal recessive inheritance
OMIM:105400	OPTN	10133	HP:0001257	Spasticity
OMIM:105400	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	FUS	2521	HP:0001425	Heterogeneous
OMIM:105400	FUS	2521	HP:0010535	Sleep apnea
OMIM:105400	FUS	2521	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	FUS	2521	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	FUS	2521	HP:0007024	Pseudobulbar paralysis
OMIM:105400	FUS	2521	HP:0003394	Muscle cramps
OMIM:105400	FUS	2521	HP:0001324	Muscle weakness
OMIM:105400	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:105400	FUS	2521	HP:0003202	Skeletal muscle atrophy
OMIM:105400	FUS	2521	HP:0001347	Hyperreflexia
OMIM:105400	FUS	2521	HP:0002380	Fasciculations
OMIM:105400	FUS	2521	HP:0000007	Autosomal recessive inheritance
OMIM:105400	FUS	2521	HP:0001257	Spasticity
OMIM:105400	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	UBQLN2	29978	HP:0001425	Heterogeneous
OMIM:105400	UBQLN2	29978	HP:0010535	Sleep apnea
OMIM:105400	UBQLN2	29978	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	UBQLN2	29978	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	UBQLN2	29978	HP:0007024	Pseudobulbar paralysis
OMIM:105400	UBQLN2	29978	HP:0003394	Muscle cramps
OMIM:105400	UBQLN2	29978	HP:0001324	Muscle weakness
OMIM:105400	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:105400	UBQLN2	29978	HP:0003202	Skeletal muscle atrophy
OMIM:105400	UBQLN2	29978	HP:0001347	Hyperreflexia
OMIM:105400	UBQLN2	29978	HP:0002380	Fasciculations
OMIM:105400	UBQLN2	29978	HP:0000007	Autosomal recessive inheritance
OMIM:105400	UBQLN2	29978	HP:0001257	Spasticity
OMIM:105400	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	ANG	283	HP:0001425	Heterogeneous
OMIM:105400	ANG	283	HP:0010535	Sleep apnea
OMIM:105400	ANG	283	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	ANG	283	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	ANG	283	HP:0007024	Pseudobulbar paralysis
OMIM:105400	ANG	283	HP:0003394	Muscle cramps
OMIM:105400	ANG	283	HP:0001324	Muscle weakness
OMIM:105400	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:105400	ANG	283	HP:0003202	Skeletal muscle atrophy
OMIM:105400	ANG	283	HP:0001347	Hyperreflexia
OMIM:105400	ANG	283	HP:0002380	Fasciculations
OMIM:105400	ANG	283	HP:0000007	Autosomal recessive inheritance
OMIM:105400	ANG	283	HP:0001257	Spasticity
OMIM:105400	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	C9ORF72	203228	HP:0001425	Heterogeneous
OMIM:105400	C9ORF72	203228	HP:0010535	Sleep apnea
OMIM:105400	C9ORF72	203228	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	C9ORF72	203228	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	C9ORF72	203228	HP:0007024	Pseudobulbar paralysis
OMIM:105400	C9ORF72	203228	HP:0003394	Muscle cramps
OMIM:105400	C9ORF72	203228	HP:0001324	Muscle weakness
OMIM:105400	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:105400	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:105400	C9ORF72	203228	HP:0001347	Hyperreflexia
OMIM:105400	C9ORF72	203228	HP:0002380	Fasciculations
OMIM:105400	C9ORF72	203228	HP:0000007	Autosomal recessive inheritance
OMIM:105400	C9ORF72	203228	HP:0001257	Spasticity
OMIM:105400	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	PFN1	5216	HP:0001425	Heterogeneous
OMIM:105400	PFN1	5216	HP:0010535	Sleep apnea
OMIM:105400	PFN1	5216	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	PFN1	5216	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	PFN1	5216	HP:0007024	Pseudobulbar paralysis
OMIM:105400	PFN1	5216	HP:0003394	Muscle cramps
OMIM:105400	PFN1	5216	HP:0001324	Muscle weakness
OMIM:105400	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:105400	PFN1	5216	HP:0003202	Skeletal muscle atrophy
OMIM:105400	PFN1	5216	HP:0001347	Hyperreflexia
OMIM:105400	PFN1	5216	HP:0002380	Fasciculations
OMIM:105400	PFN1	5216	HP:0000007	Autosomal recessive inheritance
OMIM:105400	PFN1	5216	HP:0001257	Spasticity
OMIM:105400	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	ATXN2	6311	HP:0001425	Heterogeneous
OMIM:105400	ATXN2	6311	HP:0010535	Sleep apnea
OMIM:105400	ATXN2	6311	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	ATXN2	6311	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	ATXN2	6311	HP:0007024	Pseudobulbar paralysis
OMIM:105400	ATXN2	6311	HP:0003394	Muscle cramps
OMIM:105400	ATXN2	6311	HP:0001324	Muscle weakness
OMIM:105400	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:105400	ATXN2	6311	HP:0003202	Skeletal muscle atrophy
OMIM:105400	ATXN2	6311	HP:0001347	Hyperreflexia
OMIM:105400	ATXN2	6311	HP:0002380	Fasciculations
OMIM:105400	ATXN2	6311	HP:0000007	Autosomal recessive inheritance
OMIM:105400	ATXN2	6311	HP:0001257	Spasticity
OMIM:105400	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	DCTN1	1639	HP:0001425	Heterogeneous
OMIM:105400	DCTN1	1639	HP:0010535	Sleep apnea
OMIM:105400	DCTN1	1639	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	DCTN1	1639	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	DCTN1	1639	HP:0007024	Pseudobulbar paralysis
OMIM:105400	DCTN1	1639	HP:0003394	Muscle cramps
OMIM:105400	DCTN1	1639	HP:0001324	Muscle weakness
OMIM:105400	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:105400	DCTN1	1639	HP:0003202	Skeletal muscle atrophy
OMIM:105400	DCTN1	1639	HP:0001347	Hyperreflexia
OMIM:105400	DCTN1	1639	HP:0002380	Fasciculations
OMIM:105400	DCTN1	1639	HP:0000007	Autosomal recessive inheritance
OMIM:105400	DCTN1	1639	HP:0001257	Spasticity
OMIM:105400	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	FIG4	9896	HP:0001425	Heterogeneous
OMIM:105400	FIG4	9896	HP:0010535	Sleep apnea
OMIM:105400	FIG4	9896	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	FIG4	9896	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	FIG4	9896	HP:0007024	Pseudobulbar paralysis
OMIM:105400	FIG4	9896	HP:0003394	Muscle cramps
OMIM:105400	FIG4	9896	HP:0001324	Muscle weakness
OMIM:105400	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:105400	FIG4	9896	HP:0003202	Skeletal muscle atrophy
OMIM:105400	FIG4	9896	HP:0001347	Hyperreflexia
OMIM:105400	FIG4	9896	HP:0002380	Fasciculations
OMIM:105400	FIG4	9896	HP:0000007	Autosomal recessive inheritance
OMIM:105400	FIG4	9896	HP:0001257	Spasticity
OMIM:105400	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	HNRNPA1	3178	HP:0001425	Heterogeneous
OMIM:105400	HNRNPA1	3178	HP:0010535	Sleep apnea
OMIM:105400	HNRNPA1	3178	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	HNRNPA1	3178	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	HNRNPA1	3178	HP:0007024	Pseudobulbar paralysis
OMIM:105400	HNRNPA1	3178	HP:0003394	Muscle cramps
OMIM:105400	HNRNPA1	3178	HP:0001324	Muscle weakness
OMIM:105400	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:105400	HNRNPA1	3178	HP:0003202	Skeletal muscle atrophy
OMIM:105400	HNRNPA1	3178	HP:0001347	Hyperreflexia
OMIM:105400	HNRNPA1	3178	HP:0002380	Fasciculations
OMIM:105400	HNRNPA1	3178	HP:0000007	Autosomal recessive inheritance
OMIM:105400	HNRNPA1	3178	HP:0001257	Spasticity
OMIM:105400	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	SQSTM1	8878	HP:0001425	Heterogeneous
OMIM:105400	SQSTM1	8878	HP:0010535	Sleep apnea
OMIM:105400	SQSTM1	8878	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	SQSTM1	8878	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	SQSTM1	8878	HP:0007024	Pseudobulbar paralysis
OMIM:105400	SQSTM1	8878	HP:0003394	Muscle cramps
OMIM:105400	SQSTM1	8878	HP:0001324	Muscle weakness
OMIM:105400	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:105400	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:105400	SQSTM1	8878	HP:0001347	Hyperreflexia
OMIM:105400	SQSTM1	8878	HP:0002380	Fasciculations
OMIM:105400	SQSTM1	8878	HP:0000007	Autosomal recessive inheritance
OMIM:105400	SQSTM1	8878	HP:0001257	Spasticity
OMIM:105400	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	UNC13A	23025	HP:0001425	Heterogeneous
OMIM:105400	UNC13A	23025	HP:0010535	Sleep apnea
OMIM:105400	UNC13A	23025	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	UNC13A	23025	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	UNC13A	23025	HP:0007024	Pseudobulbar paralysis
OMIM:105400	UNC13A	23025	HP:0003394	Muscle cramps
OMIM:105400	UNC13A	23025	HP:0001324	Muscle weakness
OMIM:105400	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:105400	UNC13A	23025	HP:0003202	Skeletal muscle atrophy
OMIM:105400	UNC13A	23025	HP:0001347	Hyperreflexia
OMIM:105400	UNC13A	23025	HP:0002380	Fasciculations
OMIM:105400	UNC13A	23025	HP:0000007	Autosomal recessive inheritance
OMIM:105400	UNC13A	23025	HP:0001257	Spasticity
OMIM:105400	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	MATR3	9782	HP:0001425	Heterogeneous
OMIM:105400	MATR3	9782	HP:0010535	Sleep apnea
OMIM:105400	MATR3	9782	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	MATR3	9782	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	MATR3	9782	HP:0007024	Pseudobulbar paralysis
OMIM:105400	MATR3	9782	HP:0003394	Muscle cramps
OMIM:105400	MATR3	9782	HP:0001324	Muscle weakness
OMIM:105400	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:105400	MATR3	9782	HP:0003202	Skeletal muscle atrophy
OMIM:105400	MATR3	9782	HP:0001347	Hyperreflexia
OMIM:105400	MATR3	9782	HP:0002380	Fasciculations
OMIM:105400	MATR3	9782	HP:0000007	Autosomal recessive inheritance
OMIM:105400	MATR3	9782	HP:0001257	Spasticity
OMIM:105400	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	TBK1	29110	HP:0001425	Heterogeneous
OMIM:105400	TBK1	29110	HP:0010535	Sleep apnea
OMIM:105400	TBK1	29110	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	TBK1	29110	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	TBK1	29110	HP:0007024	Pseudobulbar paralysis
OMIM:105400	TBK1	29110	HP:0003394	Muscle cramps
OMIM:105400	TBK1	29110	HP:0001324	Muscle weakness
OMIM:105400	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:105400	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:105400	TBK1	29110	HP:0001347	Hyperreflexia
OMIM:105400	TBK1	29110	HP:0002380	Fasciculations
OMIM:105400	TBK1	29110	HP:0000007	Autosomal recessive inheritance
OMIM:105400	TBK1	29110	HP:0001257	Spasticity
OMIM:105400	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	SOD1	6647	HP:0001425	Heterogeneous
OMIM:105400	SOD1	6647	HP:0010535	Sleep apnea
OMIM:105400	SOD1	6647	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	SOD1	6647	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	SOD1	6647	HP:0007024	Pseudobulbar paralysis
OMIM:105400	SOD1	6647	HP:0003394	Muscle cramps
OMIM:105400	SOD1	6647	HP:0001324	Muscle weakness
OMIM:105400	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:105400	SOD1	6647	HP:0003202	Skeletal muscle atrophy
OMIM:105400	SOD1	6647	HP:0001347	Hyperreflexia
OMIM:105400	SOD1	6647	HP:0002380	Fasciculations
OMIM:105400	SOD1	6647	HP:0000007	Autosomal recessive inheritance
OMIM:105400	SOD1	6647	HP:0001257	Spasticity
OMIM:105400	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	VCP	7415	HP:0001425	Heterogeneous
OMIM:105400	VCP	7415	HP:0010535	Sleep apnea
OMIM:105400	VCP	7415	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	VCP	7415	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	VCP	7415	HP:0007024	Pseudobulbar paralysis
OMIM:105400	VCP	7415	HP:0003394	Muscle cramps
OMIM:105400	VCP	7415	HP:0001324	Muscle weakness
OMIM:105400	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:105400	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:105400	VCP	7415	HP:0001347	Hyperreflexia
OMIM:105400	VCP	7415	HP:0002380	Fasciculations
OMIM:105400	VCP	7415	HP:0000007	Autosomal recessive inheritance
OMIM:105400	VCP	7415	HP:0001257	Spasticity
OMIM:105400	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	CHMP2B	25978	HP:0001425	Heterogeneous
OMIM:105400	CHMP2B	25978	HP:0010535	Sleep apnea
OMIM:105400	CHMP2B	25978	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	CHMP2B	25978	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	CHMP2B	25978	HP:0007024	Pseudobulbar paralysis
OMIM:105400	CHMP2B	25978	HP:0003394	Muscle cramps
OMIM:105400	CHMP2B	25978	HP:0001324	Muscle weakness
OMIM:105400	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:105400	CHMP2B	25978	HP:0003202	Skeletal muscle atrophy
OMIM:105400	CHMP2B	25978	HP:0001347	Hyperreflexia
OMIM:105400	CHMP2B	25978	HP:0002380	Fasciculations
OMIM:105400	CHMP2B	25978	HP:0000007	Autosomal recessive inheritance
OMIM:105400	CHMP2B	25978	HP:0001257	Spasticity
OMIM:105400	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:105400	PRPH	5630	HP:0001425	Heterogeneous
OMIM:105400	PRPH	5630	HP:0010535	Sleep apnea
OMIM:105400	PRPH	5630	HP:0002398	Degeneration of anterior horn cells
OMIM:105400	PRPH	5630	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:105400	PRPH	5630	HP:0007024	Pseudobulbar paralysis
OMIM:105400	PRPH	5630	HP:0003394	Muscle cramps
OMIM:105400	PRPH	5630	HP:0001324	Muscle weakness
OMIM:105400	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:105400	PRPH	5630	HP:0003202	Skeletal muscle atrophy
OMIM:105400	PRPH	5630	HP:0001347	Hyperreflexia
OMIM:105400	PRPH	5630	HP:0002380	Fasciculations
OMIM:105400	PRPH	5630	HP:0000007	Autosomal recessive inheritance
OMIM:105400	PRPH	5630	HP:0001257	Spasticity
OMIM:601859	FAS	355	HP:0002240	Hepatomegaly
OMIM:601859	FAS	355	HP:0000006	Autosomal dominant inheritance
OMIM:601859	FAS	355	HP:0001744	Splenomegaly
OMIM:601859	FAS	355	HP:0001880	Eosinophilia
OMIM:601859	FAS	355	HP:0001025	Urticaria
OMIM:601859	FAS	355	HP:0002633	Vasculitis
OMIM:601859	FAS	355	HP:0003493	Antinuclear antibody positivity
OMIM:601859	FASLG	356	HP:0002240	Hepatomegaly
OMIM:601859	FASLG	356	HP:0000006	Autosomal dominant inheritance
OMIM:601859	FASLG	356	HP:0001744	Splenomegaly
OMIM:601859	FASLG	356	HP:0001880	Eosinophilia
OMIM:601859	FASLG	356	HP:0001025	Urticaria
OMIM:601859	FASLG	356	HP:0002633	Vasculitis
OMIM:601859	FASLG	356	HP:0003493	Antinuclear antibody positivity
OMIM:601859	CASP10	843	HP:0002240	Hepatomegaly
OMIM:601859	CASP10	843	HP:0000006	Autosomal dominant inheritance
OMIM:601859	CASP10	843	HP:0001744	Splenomegaly
OMIM:601859	CASP10	843	HP:0001880	Eosinophilia
OMIM:601859	CASP10	843	HP:0001025	Urticaria
OMIM:601859	CASP10	843	HP:0002633	Vasculitis
OMIM:601859	CASP10	843	HP:0003493	Antinuclear antibody positivity
OMIM:601859	PRKCD	5580	HP:0002240	Hepatomegaly
OMIM:601859	PRKCD	5580	HP:0000006	Autosomal dominant inheritance
OMIM:601859	PRKCD	5580	HP:0001744	Splenomegaly
OMIM:601859	PRKCD	5580	HP:0001880	Eosinophilia
OMIM:601859	PRKCD	5580	HP:0001025	Urticaria
OMIM:601859	PRKCD	5580	HP:0002633	Vasculitis
OMIM:601859	PRKCD	5580	HP:0003493	Antinuclear antibody positivity
OMIM:613235	F13A1	2162	HP:0000978	Bruising susceptibility
OMIM:613235	F13A1	2162	HP:0000007	Autosomal recessive inheritance
OMIM:613235	F13A1	2162	HP:0008357	Reduced factor XIII activity
OMIM:613235	F13A1	2162	HP:0003577	Congenital onset
OMIM:613235	F13B	2165	HP:0000978	Bruising susceptibility
OMIM:613235	F13B	2165	HP:0000007	Autosomal recessive inheritance
OMIM:613235	F13B	2165	HP:0008357	Reduced factor XIII activity
OMIM:613235	F13B	2165	HP:0003577	Congenital onset
OMIM:613845	SARS2	54938	HP:0001508	Failure to thrive
OMIM:613845	SARS2	54938	HP:0002149	Hyperuricemia
OMIM:613845	SARS2	54938	HP:0001882	Leukopenia
OMIM:613845	SARS2	54938	HP:0001903	Anemia
OMIM:613845	SARS2	54938	HP:0000007	Autosomal recessive inheritance
OMIM:613845	SARS2	54938	HP:0001252	Muscular hypotonia
OMIM:613845	SARS2	54938	HP:0011968	Feeding difficulties
OMIM:613845	SARS2	54938	HP:0000093	Proteinuria
OMIM:613845	SARS2	54938	HP:0001622	Premature birth
OMIM:613845	SARS2	54938	HP:0000819	Diabetes mellitus
OMIM:613845	SARS2	54938	HP:0001873	Thrombocytopenia
OMIM:613845	SARS2	54938	HP:0004719	Hyperechogenic kidneys
OMIM:613845	SARS2	54938	HP:0012622	Chronic kidney disease
OMIM:613845	SARS2	54938	HP:0002878	Respiratory failure
OMIM:613845	SARS2	54938	HP:0003593	Infantile onset
OMIM:615190	ACD	65057	HP:0004313	Decreased antibody level in blood
OMIM:615190	ACD	65057	HP:0000252	Microcephaly
OMIM:615190	ACD	65057	HP:0008897	Postnatal growth retardation
OMIM:615190	ACD	65057	HP:0001263	Global developmental delay
OMIM:615190	ACD	65057	HP:0001321	Cerebellar hypoplasia
OMIM:615190	ACD	65057	HP:0001511	Intrauterine growth retardation
OMIM:615190	ACD	65057	HP:0001882	Leukopenia
OMIM:615190	ACD	65057	HP:0000007	Autosomal recessive inheritance
OMIM:615190	ACD	65057	HP:0005528	Bone marrow hypocellularity
OMIM:615190	ACD	65057	HP:0002583	Colitis
OMIM:615190	ACD	65057	HP:0008404	Nail dystrophy
OMIM:615190	PARN	5073	HP:0004313	Decreased antibody level in blood
OMIM:615190	PARN	5073	HP:0000252	Microcephaly
OMIM:615190	PARN	5073	HP:0008897	Postnatal growth retardation
OMIM:615190	PARN	5073	HP:0001263	Global developmental delay
OMIM:615190	PARN	5073	HP:0001321	Cerebellar hypoplasia
OMIM:615190	PARN	5073	HP:0001511	Intrauterine growth retardation
OMIM:615190	PARN	5073	HP:0001882	Leukopenia
OMIM:615190	PARN	5073	HP:0000007	Autosomal recessive inheritance
OMIM:615190	PARN	5073	HP:0005528	Bone marrow hypocellularity
OMIM:615190	PARN	5073	HP:0002583	Colitis
OMIM:615190	PARN	5073	HP:0008404	Nail dystrophy
OMIM:615190	NOP10	55505	HP:0004313	Decreased antibody level in blood
OMIM:615190	NOP10	55505	HP:0000252	Microcephaly
OMIM:615190	NOP10	55505	HP:0008897	Postnatal growth retardation
OMIM:615190	NOP10	55505	HP:0001263	Global developmental delay
OMIM:615190	NOP10	55505	HP:0001321	Cerebellar hypoplasia
OMIM:615190	NOP10	55505	HP:0001511	Intrauterine growth retardation
OMIM:615190	NOP10	55505	HP:0001882	Leukopenia
OMIM:615190	NOP10	55505	HP:0000007	Autosomal recessive inheritance
OMIM:615190	NOP10	55505	HP:0005528	Bone marrow hypocellularity
OMIM:615190	NOP10	55505	HP:0002583	Colitis
OMIM:615190	NOP10	55505	HP:0008404	Nail dystrophy
OMIM:615190	NHP2	55651	HP:0004313	Decreased antibody level in blood
OMIM:615190	NHP2	55651	HP:0000252	Microcephaly
OMIM:615190	NHP2	55651	HP:0008897	Postnatal growth retardation
OMIM:615190	NHP2	55651	HP:0001263	Global developmental delay
OMIM:615190	NHP2	55651	HP:0001321	Cerebellar hypoplasia
OMIM:615190	NHP2	55651	HP:0001511	Intrauterine growth retardation
OMIM:615190	NHP2	55651	HP:0001882	Leukopenia
OMIM:615190	NHP2	55651	HP:0000007	Autosomal recessive inheritance
OMIM:615190	NHP2	55651	HP:0005528	Bone marrow hypocellularity
OMIM:615190	NHP2	55651	HP:0002583	Colitis
OMIM:615190	NHP2	55651	HP:0008404	Nail dystrophy
OMIM:615190	USB1	79650	HP:0004313	Decreased antibody level in blood
OMIM:615190	USB1	79650	HP:0000252	Microcephaly
OMIM:615190	USB1	79650	HP:0008897	Postnatal growth retardation
OMIM:615190	USB1	79650	HP:0001263	Global developmental delay
OMIM:615190	USB1	79650	HP:0001321	Cerebellar hypoplasia
OMIM:615190	USB1	79650	HP:0001511	Intrauterine growth retardation
OMIM:615190	USB1	79650	HP:0001882	Leukopenia
OMIM:615190	USB1	79650	HP:0000007	Autosomal recessive inheritance
OMIM:615190	USB1	79650	HP:0005528	Bone marrow hypocellularity
OMIM:615190	USB1	79650	HP:0002583	Colitis
OMIM:615190	USB1	79650	HP:0008404	Nail dystrophy
OMIM:615190	TERC	7012	HP:0004313	Decreased antibody level in blood
OMIM:615190	TERC	7012	HP:0000252	Microcephaly
OMIM:615190	TERC	7012	HP:0008897	Postnatal growth retardation
OMIM:615190	TERC	7012	HP:0001263	Global developmental delay
OMIM:615190	TERC	7012	HP:0001321	Cerebellar hypoplasia
OMIM:615190	TERC	7012	HP:0001511	Intrauterine growth retardation
OMIM:615190	TERC	7012	HP:0001882	Leukopenia
OMIM:615190	TERC	7012	HP:0000007	Autosomal recessive inheritance
OMIM:615190	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:615190	TERC	7012	HP:0002583	Colitis
OMIM:615190	TERC	7012	HP:0008404	Nail dystrophy
OMIM:615190	TINF2	26277	HP:0004313	Decreased antibody level in blood
OMIM:615190	TINF2	26277	HP:0000252	Microcephaly
OMIM:615190	TINF2	26277	HP:0008897	Postnatal growth retardation
OMIM:615190	TINF2	26277	HP:0001263	Global developmental delay
OMIM:615190	TINF2	26277	HP:0001321	Cerebellar hypoplasia
OMIM:615190	TINF2	26277	HP:0001511	Intrauterine growth retardation
OMIM:615190	TINF2	26277	HP:0001882	Leukopenia
OMIM:615190	TINF2	26277	HP:0000007	Autosomal recessive inheritance
OMIM:615190	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:615190	TINF2	26277	HP:0002583	Colitis
OMIM:615190	TINF2	26277	HP:0008404	Nail dystrophy
OMIM:615190	RTEL1	51750	HP:0004313	Decreased antibody level in blood
OMIM:615190	RTEL1	51750	HP:0000252	Microcephaly
OMIM:615190	RTEL1	51750	HP:0008897	Postnatal growth retardation
OMIM:615190	RTEL1	51750	HP:0001263	Global developmental delay
OMIM:615190	RTEL1	51750	HP:0001321	Cerebellar hypoplasia
OMIM:615190	RTEL1	51750	HP:0001511	Intrauterine growth retardation
OMIM:615190	RTEL1	51750	HP:0001882	Leukopenia
OMIM:615190	RTEL1	51750	HP:0000007	Autosomal recessive inheritance
OMIM:615190	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
OMIM:615190	RTEL1	51750	HP:0002583	Colitis
OMIM:615190	RTEL1	51750	HP:0008404	Nail dystrophy
OMIM:615190	TERT	7015	HP:0004313	Decreased antibody level in blood
OMIM:615190	TERT	7015	HP:0000252	Microcephaly
OMIM:615190	TERT	7015	HP:0008897	Postnatal growth retardation
OMIM:615190	TERT	7015	HP:0001263	Global developmental delay
OMIM:615190	TERT	7015	HP:0001321	Cerebellar hypoplasia
OMIM:615190	TERT	7015	HP:0001511	Intrauterine growth retardation
OMIM:615190	TERT	7015	HP:0001882	Leukopenia
OMIM:615190	TERT	7015	HP:0000007	Autosomal recessive inheritance
OMIM:615190	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:615190	TERT	7015	HP:0002583	Colitis
OMIM:615190	TERT	7015	HP:0008404	Nail dystrophy
OMIM:615190	DKC1	1736	HP:0004313	Decreased antibody level in blood
OMIM:615190	DKC1	1736	HP:0000252	Microcephaly
OMIM:615190	DKC1	1736	HP:0008897	Postnatal growth retardation
OMIM:615190	DKC1	1736	HP:0001263	Global developmental delay
OMIM:615190	DKC1	1736	HP:0001321	Cerebellar hypoplasia
OMIM:615190	DKC1	1736	HP:0001511	Intrauterine growth retardation
OMIM:615190	DKC1	1736	HP:0001882	Leukopenia
OMIM:615190	DKC1	1736	HP:0000007	Autosomal recessive inheritance
OMIM:615190	DKC1	1736	HP:0005528	Bone marrow hypocellularity
OMIM:615190	DKC1	1736	HP:0002583	Colitis
OMIM:615190	DKC1	1736	HP:0008404	Nail dystrophy
OMIM:615190	CTC1	80169	HP:0004313	Decreased antibody level in blood
OMIM:615190	CTC1	80169	HP:0000252	Microcephaly
OMIM:615190	CTC1	80169	HP:0008897	Postnatal growth retardation
OMIM:615190	CTC1	80169	HP:0001263	Global developmental delay
OMIM:615190	CTC1	80169	HP:0001321	Cerebellar hypoplasia
OMIM:615190	CTC1	80169	HP:0001511	Intrauterine growth retardation
OMIM:615190	CTC1	80169	HP:0001882	Leukopenia
OMIM:615190	CTC1	80169	HP:0000007	Autosomal recessive inheritance
OMIM:615190	CTC1	80169	HP:0005528	Bone marrow hypocellularity
OMIM:615190	CTC1	80169	HP:0002583	Colitis
OMIM:615190	CTC1	80169	HP:0008404	Nail dystrophy
OMIM:615190	WRAP53	55135	HP:0004313	Decreased antibody level in blood
OMIM:615190	WRAP53	55135	HP:0000252	Microcephaly
OMIM:615190	WRAP53	55135	HP:0008897	Postnatal growth retardation
OMIM:615190	WRAP53	55135	HP:0001263	Global developmental delay
OMIM:615190	WRAP53	55135	HP:0001321	Cerebellar hypoplasia
OMIM:615190	WRAP53	55135	HP:0001511	Intrauterine growth retardation
OMIM:615190	WRAP53	55135	HP:0001882	Leukopenia
OMIM:615190	WRAP53	55135	HP:0000007	Autosomal recessive inheritance
OMIM:615190	WRAP53	55135	HP:0005528	Bone marrow hypocellularity
OMIM:615190	WRAP53	55135	HP:0002583	Colitis
OMIM:615190	WRAP53	55135	HP:0008404	Nail dystrophy
ORPHANET:79085	AKT2	208	HP:0000855	Insulin resistance
ORPHANET:79085	AKT2	208	HP:0000956	Acanthosis nigricans
ORPHANET:79085	AKT2	208	HP:0003119	Abnormality of lipid metabolism
ORPHANET:79085	AKT2	208	HP:0001635	Congestive heart failure
ORPHANET:79085	AKT2	208	HP:0009124	Abnormality of adipose tissue
ORPHANET:79085	AKT2	208	HP:0001397	Hepatic steatosis
ORPHANET:79085	AKT2	208	HP:0000822	Hypertension
ORPHANET:79085	AKT2	208	HP:0001677	Coronary artery disease
ORPHANET:79085	AKT2	208	HP:0000147	Polycystic ovaries
OMIM:167320	VCP	7415	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:167320	VCP	7415	HP:0002357	Dysphasia
OMIM:167320	VCP	7415	HP:0003693	Distal amyotrophy
OMIM:167320	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:167320	VCP	7415	HP:0003724	Shoulder girdle muscle atrophy
OMIM:167320	VCP	7415	HP:0008988	Pelvic girdle muscle atrophy
OMIM:167320	VCP	7415	HP:0002938	Lumbar hyperlordosis
OMIM:167320	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:167320	VCP	7415	HP:0003749	Pelvic girdle muscle weakness
OMIM:167320	VCP	7415	HP:0003701	Proximal muscle weakness
OMIM:167320	VCP	7415	HP:0003805	Rimmed vacuoles
OMIM:167320	VCP	7415	HP:0001288	Gait disturbance
OMIM:167320	VCP	7415	HP:0003198	Myopathy
OMIM:167320	VCP	7415	HP:0001332	Dystonia
OMIM:167320	VCP	7415	HP:0010628	Facial palsy
OMIM:167320	VCP	7415	HP:0003236	Elevated serum creatine phosphokinase
OMIM:167320	VCP	7415	HP:0003690	Limb muscle weakness
OMIM:167320	VCP	7415	HP:0003547	Shoulder girdle muscle weakness
OMIM:167320	VCP	7415	HP:0003691	Scapular winging
OMIM:167320	HNRNPA1	3178	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:167320	HNRNPA1	3178	HP:0002357	Dysphasia
OMIM:167320	HNRNPA1	3178	HP:0003693	Distal amyotrophy
OMIM:167320	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:167320	HNRNPA1	3178	HP:0003724	Shoulder girdle muscle atrophy
OMIM:167320	HNRNPA1	3178	HP:0008988	Pelvic girdle muscle atrophy
OMIM:167320	HNRNPA1	3178	HP:0002938	Lumbar hyperlordosis
OMIM:167320	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:167320	HNRNPA1	3178	HP:0003749	Pelvic girdle muscle weakness
OMIM:167320	HNRNPA1	3178	HP:0003701	Proximal muscle weakness
OMIM:167320	HNRNPA1	3178	HP:0003805	Rimmed vacuoles
OMIM:167320	HNRNPA1	3178	HP:0001288	Gait disturbance
OMIM:167320	HNRNPA1	3178	HP:0003198	Myopathy
OMIM:167320	HNRNPA1	3178	HP:0001332	Dystonia
OMIM:167320	HNRNPA1	3178	HP:0010628	Facial palsy
OMIM:167320	HNRNPA1	3178	HP:0003236	Elevated serum creatine phosphokinase
OMIM:167320	HNRNPA1	3178	HP:0003690	Limb muscle weakness
OMIM:167320	HNRNPA1	3178	HP:0003547	Shoulder girdle muscle weakness
OMIM:167320	HNRNPA1	3178	HP:0003691	Scapular winging
OMIM:167320	HNRNPA2B1	3181	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:167320	HNRNPA2B1	3181	HP:0002357	Dysphasia
OMIM:167320	HNRNPA2B1	3181	HP:0003693	Distal amyotrophy
OMIM:167320	HNRNPA2B1	3181	HP:0000006	Autosomal dominant inheritance
OMIM:167320	HNRNPA2B1	3181	HP:0003724	Shoulder girdle muscle atrophy
OMIM:167320	HNRNPA2B1	3181	HP:0008988	Pelvic girdle muscle atrophy
OMIM:167320	HNRNPA2B1	3181	HP:0002938	Lumbar hyperlordosis
OMIM:167320	HNRNPA2B1	3181	HP:0007354	Amyotrophic lateral sclerosis
OMIM:167320	HNRNPA2B1	3181	HP:0003749	Pelvic girdle muscle weakness
OMIM:167320	HNRNPA2B1	3181	HP:0003701	Proximal muscle weakness
OMIM:167320	HNRNPA2B1	3181	HP:0003805	Rimmed vacuoles
OMIM:167320	HNRNPA2B1	3181	HP:0001288	Gait disturbance
OMIM:167320	HNRNPA2B1	3181	HP:0003198	Myopathy
OMIM:167320	HNRNPA2B1	3181	HP:0001332	Dystonia
OMIM:167320	HNRNPA2B1	3181	HP:0010628	Facial palsy
OMIM:167320	HNRNPA2B1	3181	HP:0003236	Elevated serum creatine phosphokinase
OMIM:167320	HNRNPA2B1	3181	HP:0003690	Limb muscle weakness
OMIM:167320	HNRNPA2B1	3181	HP:0003547	Shoulder girdle muscle weakness
OMIM:167320	HNRNPA2B1	3181	HP:0003691	Scapular winging
OMIM:252920	NAGLU	4669	HP:0001744	Splenomegaly
OMIM:252920	NAGLU	4669	HP:0003309	Ovoid thoracolumbar vertebrae
OMIM:252920	NAGLU	4669	HP:0001249	Intellectual disability
OMIM:252920	NAGLU	4669	HP:0002014	Diarrhea
OMIM:252920	NAGLU	4669	HP:0000943	Dysostosis multiplex
OMIM:252920	NAGLU	4669	HP:0002159	Heparan sulfate excretion in urine
OMIM:252920	NAGLU	4669	HP:0001007	Hirsutism
OMIM:252920	NAGLU	4669	HP:0000664	Synophrys
OMIM:252920	NAGLU	4669	HP:0000718	Aggressive behavior
OMIM:252920	NAGLU	4669	HP:0002240	Hepatomegaly
OMIM:252920	NAGLU	4669	HP:0000007	Autosomal recessive inheritance
OMIM:252920	NAGLU	4669	HP:0002360	Sleep disturbance
OMIM:252920	NAGLU	4669	HP:0000900	Thickened ribs
OMIM:252920	NAGLU	4669	HP:0000280	Coarse facial features
OMIM:252920	NAGLU	4669	HP:0001387	Joint stiffness
OMIM:252920	NAGLU	4669	HP:0002344	Progressive neurologic deterioration
OMIM:252920	NAGLU	4669	HP:0001640	Cardiomegaly
OMIM:252920	NAGLU	4669	HP:0000365	Hearing impairment
OMIM:252920	NAGLU	4669	HP:0003621	Juvenile onset
OMIM:252920	NAGLU	4669	HP:0000752	Hyperactivity
OMIM:252920	NAGLU	4669	HP:0002208	Coarse hair
OMIM:252920	NAGLU	4669	HP:0001670	Asymmetric septal hypertrophy
OMIM:252920	NAGLU	4669	HP:0002788	Recurrent upper respiratory tract infections
OMIM:252920	NAGLU	4669	HP:0001250	Seizures
OMIM:608180	FBLN1	2192	HP:0010442	Polydactyly
OMIM:608180	FBLN1	2192	HP:0009701	Metacarpal synostosis
OMIM:608180	FBLN1	2192	HP:0008368	Tarsal synostosis
OMIM:608180	FBLN1	2192	HP:0009702	Carpal synostosis
OMIM:608180	FBLN1	2192	HP:0001440	Metatarsal synostosis
OMIM:608180	FBLN1	2192	HP:0000006	Autosomal dominant inheritance
OMIM:608180	FBLN1	2192	HP:0001770	Toe syndactyly
OMIM:611431	SPRED1	161742	HP:0000347	Micrognathia
OMIM:611431	SPRED1	161742	HP:0000006	Autosomal dominant inheritance
OMIM:611431	SPRED1	161742	HP:0000218	High palate
OMIM:611431	SPRED1	161742	HP:0000957	Cafe-au-lait spot
OMIM:611431	SPRED1	161742	HP:0000508	Ptosis
OMIM:611431	SPRED1	161742	HP:0000325	Triangular face
OMIM:611431	SPRED1	161742	HP:0007018	Attention deficit hyperactivity disorder
OMIM:611431	SPRED1	161742	HP:0000316	Hypertelorism
OMIM:611431	SPRED1	161742	HP:0001252	Muscular hypotonia
OMIM:611431	SPRED1	161742	HP:0000766	Abnormality of the sternum
OMIM:611431	SPRED1	161742	HP:0000286	Epicanthus
OMIM:611431	SPRED1	161742	HP:0000368	Low-set, posteriorly rotated ears
OMIM:611431	SPRED1	161742	HP:0002162	Low posterior hairline
OMIM:611431	SPRED1	161742	HP:0001067	Neurofibromas
OMIM:611431	SPRED1	161742	HP:0000470	Short neck
OMIM:611431	SPRED1	161742	HP:0000494	Downslanted palpebral fissures
OMIM:611431	SPRED1	161742	HP:0001328	Specific learning disability
OMIM:611431	SPRED1	161742	HP:0000256	Macrocephaly
OMIM:615540	MSRB3	253827	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:615540	BSND	7809	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:615540	ESPN	83715	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:615540	DFNB31	25861	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:615540	OTOA	146183	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:615540	GJA1	2697	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:615540	MET	4233	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:615540	CLDN14	23562	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:615540	HGF	3082	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:615540	PNPT1	87178	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:615540	EPS8	2059	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:615540	MYO3A	53904	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:615540	DCDC2	51473	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:615540	GJB2	2706	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:615540	GJB3	2707	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:615540	CABP2	51475	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:615540	GRXCR2	643226	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:615540	SERPINB6	5269	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:615540	COL11A2	1302	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:615540	CIB2	10518	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:615540	FAM65B	9750	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:615540	KARS	3735	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:615540	LOXHD1	125336	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:615540	TMC1	117531	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:615540	CLIC5	53405	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:615540	OTOF	9381	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:615540	MYO6	4646	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:615540	TMIE	259236	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:615540	MYO7A	4647	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:615540	LRTOMT	220074	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:615540	OTOGL	283310	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:615540	TPRN	286262	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:615540	SLC26A4	5172	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:615540	GJB6	10804	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:615540	DFNB59	494513	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:615540	ESRRB	2103	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:615540	TMPRSS3	64699	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:615540	PTPRQ	374462	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:615540	SLC26A5	375611	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:615540	PCDH15	65217	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:615540	TSPEAR	54084	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:615540	LHFPL5	222662	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:615540	TRIOBP	11078	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:615540	CDH23	64072	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:615540	RDX	5962	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:615540	GPSM2	29899	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:615540	ELMOD3	84173	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:615540	ILDR1	286676	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:615540	GRXCR1	389207	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:615540	MARVELD2	153562	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:615540	STRC	161497	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:615540	SLITRK6	84189	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:615540	TECTA	7007	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:615540	MYO15A	51168	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:615540	USH1C	10083	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:615540	ADCY1	107	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:615540	SYNE4	163183	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:615540	GIPC3	126326	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:615540	TBC1D24	57465	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:615540	OTOG	340990	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:612551	APOL1	8542	HP:0010982	Polygenic inheritance
OMIM:612551	APOL1	8542	HP:0003774	Stage 5 chronic kidney disease
OMIM:612551	APOL1	8542	HP:0000097	Focal segmental glomerulosclerosis
OMIM:175800	MVK	4598	HP:0003220	Abnormality of chromosome stability
OMIM:175800	MVK	4598	HP:0008069	Neoplasm of the skin
OMIM:175800	MVK	4598	HP:0000006	Autosomal dominant inheritance
OMIM:175800	PMVK	10654	HP:0003220	Abnormality of chromosome stability
OMIM:175800	PMVK	10654	HP:0008069	Neoplasm of the skin
OMIM:175800	PMVK	10654	HP:0000006	Autosomal dominant inheritance
ORPHANET:654	POU6F2	11281	HP:0000822	Hypertension
ORPHANET:654	POU6F2	11281	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:654	POU6F2	11281	HP:0004370	Abnormality of temperature regulation
ORPHANET:654	POU6F2	11281	HP:0009726	Renal neoplasm
ORPHANET:654	POU6F2	11281	HP:0002716	Lymphadenopathy
ORPHANET:654	POU6F2	11281	HP:0000790	Hematuria
ORPHANET:654	POU6F2	11281	HP:0002027	Abdominal pain
ORPHANET:654	POU6F2	11281	HP:0001824	Weight loss
ORPHANET:654	POU6F2	11281	HP:0100526	Neoplasm of the lung
ORPHANET:654	WT1	7490	HP:0000822	Hypertension
ORPHANET:654	WT1	7490	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:654	WT1	7490	HP:0004370	Abnormality of temperature regulation
ORPHANET:654	WT1	7490	HP:0009726	Renal neoplasm
ORPHANET:654	WT1	7490	HP:0002716	Lymphadenopathy
ORPHANET:654	WT1	7490	HP:0000790	Hematuria
ORPHANET:654	WT1	7490	HP:0002027	Abdominal pain
ORPHANET:654	WT1	7490	HP:0001824	Weight loss
ORPHANET:654	WT1	7490	HP:0100526	Neoplasm of the lung
ORPHANET:654	H19	283120	HP:0000822	Hypertension
ORPHANET:654	H19	283120	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:654	H19	283120	HP:0004370	Abnormality of temperature regulation
ORPHANET:654	H19	283120	HP:0009726	Renal neoplasm
ORPHANET:654	H19	283120	HP:0002716	Lymphadenopathy
ORPHANET:654	H19	283120	HP:0000790	Hematuria
ORPHANET:654	H19	283120	HP:0002027	Abdominal pain
ORPHANET:654	H19	283120	HP:0001824	Weight loss
ORPHANET:654	H19	283120	HP:0100526	Neoplasm of the lung
ORPHANET:654	DIS3L2	129563	HP:0000822	Hypertension
ORPHANET:654	DIS3L2	129563	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:654	DIS3L2	129563	HP:0004370	Abnormality of temperature regulation
ORPHANET:654	DIS3L2	129563	HP:0009726	Renal neoplasm
ORPHANET:654	DIS3L2	129563	HP:0002716	Lymphadenopathy
ORPHANET:654	DIS3L2	129563	HP:0000790	Hematuria
ORPHANET:654	DIS3L2	129563	HP:0002027	Abdominal pain
ORPHANET:654	DIS3L2	129563	HP:0001824	Weight loss
ORPHANET:654	DIS3L2	129563	HP:0100526	Neoplasm of the lung
ORPHANET:897	EDN3	1908	HP:0002211	White forelock
ORPHANET:897	EDN3	1908	HP:0000664	Synophrys
ORPHANET:897	EDN3	1908	HP:0001103	Abnormality of the macula
ORPHANET:897	EDN3	1908	HP:0002216	Premature graying of hair
ORPHANET:897	EDN3	1908	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:897	EDN3	1908	HP:0002019	Constipation
ORPHANET:897	EDN3	1908	HP:0000506	Telecanthus
ORPHANET:897	EDN3	1908	HP:0002251	Aganglionic megacolon
ORPHANET:897	EDN3	1908	HP:0002027	Abdominal pain
ORPHANET:897	EDN3	1908	HP:0000426	Prominent nasal bridge
ORPHANET:897	EDN3	1908	HP:0000430	Underdeveloped nasal alae
ORPHANET:897	EDN3	1908	HP:0005214	Intestinal obstruction
ORPHANET:897	EDN3	1908	HP:0000365	Hearing impairment
ORPHANET:897	EDNRB	1910	HP:0002211	White forelock
ORPHANET:897	EDNRB	1910	HP:0000664	Synophrys
ORPHANET:897	EDNRB	1910	HP:0001103	Abnormality of the macula
ORPHANET:897	EDNRB	1910	HP:0002216	Premature graying of hair
ORPHANET:897	EDNRB	1910	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:897	EDNRB	1910	HP:0002019	Constipation
ORPHANET:897	EDNRB	1910	HP:0000506	Telecanthus
ORPHANET:897	EDNRB	1910	HP:0002251	Aganglionic megacolon
ORPHANET:897	EDNRB	1910	HP:0002027	Abdominal pain
ORPHANET:897	EDNRB	1910	HP:0000426	Prominent nasal bridge
ORPHANET:897	EDNRB	1910	HP:0000430	Underdeveloped nasal alae
ORPHANET:897	EDNRB	1910	HP:0005214	Intestinal obstruction
ORPHANET:897	EDNRB	1910	HP:0000365	Hearing impairment
ORPHANET:897	SOX10	6663	HP:0002211	White forelock
ORPHANET:897	SOX10	6663	HP:0000664	Synophrys
ORPHANET:897	SOX10	6663	HP:0001103	Abnormality of the macula
ORPHANET:897	SOX10	6663	HP:0002216	Premature graying of hair
ORPHANET:897	SOX10	6663	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:897	SOX10	6663	HP:0002019	Constipation
ORPHANET:897	SOX10	6663	HP:0000506	Telecanthus
ORPHANET:897	SOX10	6663	HP:0002251	Aganglionic megacolon
ORPHANET:897	SOX10	6663	HP:0002027	Abdominal pain
ORPHANET:897	SOX10	6663	HP:0000426	Prominent nasal bridge
ORPHANET:897	SOX10	6663	HP:0000430	Underdeveloped nasal alae
ORPHANET:897	SOX10	6663	HP:0005214	Intestinal obstruction
ORPHANET:897	SOX10	6663	HP:0000365	Hearing impairment
OMIM:616400	TRPV3	162514	HP:0000982	Palmoplantar keratoderma
OMIM:148600	AAGAB	79719	HP:0000006	Autosomal dominant inheritance
OMIM:148600	AAGAB	79719	HP:0000951	Abnormality of the skin
OMIM:148600	AAGAB	79719	HP:0001425	Heterogeneous
OMIM:148600	AAGAB	79719	HP:0003584	Late onset
OMIM:148600	COL14A1	7373	HP:0000006	Autosomal dominant inheritance
OMIM:148600	COL14A1	7373	HP:0000951	Abnormality of the skin
OMIM:148600	COL14A1	7373	HP:0001425	Heterogeneous
OMIM:148600	COL14A1	7373	HP:0003584	Late onset
OMIM:616001	PTPRF	5792	HP:0000319	Smooth philtrum
OMIM:616001	PTPRF	5792	HP:0000455	Broad nasal tip
OMIM:274000	RBM8A	9939	HP:0001631	Atria septal defect
OMIM:274000	RBM8A	9939	HP:0000248	Brachycephaly
OMIM:274000	RBM8A	9939	HP:0002414	Spina bifida
OMIM:274000	RBM8A	9939	HP:0001181	Adducted thumb
OMIM:274000	RBM8A	9939	HP:0001250	Seizures
OMIM:274000	RBM8A	9939	HP:0003043	Abnormality of the shoulder
OMIM:274000	RBM8A	9939	HP:0001498	Carpal bone hypoplasia
OMIM:274000	RBM8A	9939	HP:0009803	Short phalanx of finger
OMIM:274000	RBM8A	9939	HP:0001880	Eosinophilia
OMIM:274000	RBM8A	9939	HP:0001903	Anemia
OMIM:274000	RBM8A	9939	HP:0004209	Clinodactyly of the 5th finger
OMIM:274000	RBM8A	9939	HP:0001629	Ventricular septal defect
OMIM:274000	RBM8A	9939	HP:0006101	Finger syndactyly
OMIM:274000	RBM8A	9939	HP:0000347	Micrognathia
OMIM:274000	RBM8A	9939	HP:0001263	Global developmental delay
OMIM:274000	RBM8A	9939	HP:0000508	Ptosis
OMIM:274000	RBM8A	9939	HP:0001636	Tetralogy of Fallot
OMIM:274000	RBM8A	9939	HP:0002827	Hip dislocation
OMIM:274000	RBM8A	9939	HP:0006507	Aplasia/hypoplasia of the humerus
OMIM:274000	RBM8A	9939	HP:0001873	Thrombocytopenia
OMIM:274000	RBM8A	9939	HP:0006443	Patellar aplasia
OMIM:274000	RBM8A	9939	HP:0002999	Patellar dislocation
OMIM:274000	RBM8A	9939	HP:0002949	Fused cervical vertebrae
OMIM:274000	RBM8A	9939	HP:0002242	Abnormality of the intestine
OMIM:274000	RBM8A	9939	HP:0000151	Aplasia of the uterus
OMIM:274000	RBM8A	9939	HP:0000007	Autosomal recessive inheritance
OMIM:274000	RBM8A	9939	HP:0011304	Broad thumb
OMIM:274000	RBM8A	9939	HP:0000407	Sensorineural hearing impairment
OMIM:274000	RBM8A	9939	HP:0000463	Anteverted nares
OMIM:274000	RBM8A	9939	HP:0001671	Abnormality of the cardiac septa
OMIM:274000	RBM8A	9939	HP:0002673	Coxa valga
OMIM:274000	RBM8A	9939	HP:0000337	Broad forehead
OMIM:274000	RBM8A	9939	HP:0001522	Death in infancy
OMIM:274000	RBM8A	9939	HP:0001928	Abnormality of coagulation
OMIM:274000	RBM8A	9939	HP:0002245	Meckel diverticulum
OMIM:274000	RBM8A	9939	HP:0002970	Genu varum
OMIM:274000	RBM8A	9939	HP:0001321	Cerebellar hypoplasia
OMIM:274000	RBM8A	9939	HP:0001762	Talipes equinovarus
OMIM:274000	RBM8A	9939	HP:0004313	Decreased antibody level in blood
OMIM:274000	RBM8A	9939	HP:0001270	Motor delay
OMIM:274000	RBM8A	9939	HP:0000486	Strabismus
OMIM:274000	RBM8A	9939	HP:0002188	Delayed CNS myelination
OMIM:274000	RBM8A	9939	HP:0000368	Low-set, posteriorly rotated ears
OMIM:274000	RBM8A	9939	HP:0000272	Malar flattening
OMIM:274000	RBM8A	9939	HP:0000175	Cleft palate
OMIM:274000	RBM8A	9939	HP:0004322	Short stature
OMIM:274000	RBM8A	9939	HP:0009702	Carpal synostosis
OMIM:274000	RBM8A	9939	HP:0000348	High forehead
OMIM:274000	RBM8A	9939	HP:0001433	Hepatosplenomegaly
OMIM:274000	RBM8A	9939	HP:0001680	Coarctation of aorta
OMIM:274000	RBM8A	9939	HP:0008952	Shoulder muscle hypoplasia
OMIM:274000	RBM8A	9939	HP:0006495	Aplasia/Hypoplasia of the ulna
OMIM:274000	RBM8A	9939	HP:0100542	Abnormal localization of kidney
OMIM:274000	RBM8A	9939	HP:0002650	Scoliosis
OMIM:274000	RBM8A	9939	HP:0000085	Horseshoe kidney
OMIM:274000	RBM8A	9939	HP:0001051	Seborrheic dermatitis
OMIM:606056	MOGS	7841	HP:0008872	Feeding difficulties in infancy
OMIM:606056	MOGS	7841	HP:0012745	Short palpebral fissure
OMIM:606056	MOGS	7841	HP:0000218	High palate
OMIM:606056	MOGS	7841	HP:0002079	Hypoplasia of the corpus callosum
OMIM:606056	MOGS	7841	HP:0000445	Wide nose
OMIM:606056	MOGS	7841	HP:0000648	Optic atrophy
OMIM:606056	MOGS	7841	HP:0000269	Prominent occiput
OMIM:606056	MOGS	7841	HP:0002240	Hepatomegaly
OMIM:606056	MOGS	7841	HP:0001252	Muscular hypotonia
OMIM:606056	MOGS	7841	HP:0001250	Seizures
OMIM:606056	MOGS	7841	HP:0000527	Long eyelashes
OMIM:606056	MOGS	7841	HP:0000007	Autosomal recessive inheritance
OMIM:606056	MOGS	7841	HP:0004313	Decreased antibody level in blood
OMIM:606056	MOGS	7841	HP:0000278	Retrognathia
OMIM:606056	MOGS	7841	HP:0001263	Global developmental delay
OMIM:606056	MOGS	7841	HP:0000407	Sensorineural hearing impairment
OMIM:606056	MOGS	7841	HP:0002757	Recurrent fractures
OMIM:606056	MOGS	7841	HP:0002059	Cerebral atrophy
OMIM:606056	MOGS	7841	HP:0001399	Hepatic failure
OMIM:606056	MOGS	7841	HP:0000581	Blepharophimosis
OMIM:606056	MOGS	7841	HP:0002943	Thoracic scoliosis
OMIM:606056	MOGS	7841	HP:0002791	Hypoventilation
OMIM:300758	MAMLD1	10046	HP:0001419	X-linked recessive inheritance
OMIM:300758	AR	367	HP:0001419	X-linked recessive inheritance
OMIM:300860	UBE2A	7319	HP:0004324	Increased body weight
OMIM:300860	UBE2A	7319	HP:0000718	Aggressive behavior
OMIM:300860	UBE2A	7319	HP:0000958	Dry skin
OMIM:300860	UBE2A	7319	HP:0001250	Seizures
OMIM:300860	UBE2A	7319	HP:0000490	Deeply set eye
OMIM:300860	UBE2A	7319	HP:0000054	Micropenis
OMIM:300860	UBE2A	7319	HP:0001007	Hirsutism
OMIM:300860	UBE2A	7319	HP:0000233	Thin vermilion border
OMIM:300860	UBE2A	7319	HP:0000336	Prominent supraorbital ridges
OMIM:300860	UBE2A	7319	HP:0005280	Depressed nasal bridge
OMIM:300860	UBE2A	7319	HP:0002714	Downturned corners of mouth
OMIM:300860	UBE2A	7319	HP:0000154	Wide mouth
OMIM:300860	UBE2A	7319	HP:0000582	Upslanted palpebral fissure
OMIM:300860	UBE2A	7319	HP:0010721	Abnormal hair whorl
OMIM:300860	UBE2A	7319	HP:0001249	Intellectual disability
OMIM:300860	UBE2A	7319	HP:0000470	Short neck
OMIM:300860	UBE2A	7319	HP:0011800	Hypoplasia of midface
OMIM:300860	UBE2A	7319	HP:0001763	Pes planus
OMIM:300860	UBE2A	7319	HP:0006610	Wide intermamillary distance
OMIM:300860	UBE2A	7319	HP:0010055	Broad hallux
OMIM:300860	UBE2A	7319	HP:0008404	Nail dystrophy
OMIM:300860	UBE2A	7319	HP:0002164	Nail dysplasia
OMIM:300860	UBE2A	7319	HP:0000272	Malar flattening
OMIM:300860	UBE2A	7319	HP:0001419	X-linked recessive inheritance
OMIM:300860	UBE2A	7319	HP:0002465	Poor speech
OMIM:300860	UBE2A	7319	HP:0007103	Hypointensity of cerebral white matter on MRI
OMIM:300860	UBE2A	7319	HP:0000664	Synophrys
OMIM:300860	UBE2A	7319	HP:0011356	Regional abnormality of skin
OMIM:300860	UBE2A	7319	HP:0001773	Short foot
OMIM:300860	UBE2A	7319	HP:0000256	Macrocephaly
OMIM:300860	UBE2A	7319	HP:0002162	Low posterior hairline
ORPHANET:1369	SLC25A4	291	HP:0000518	Cataract
ORPHANET:1369	SLC25A4	291	HP:0000545	Myopia
ORPHANET:1369	SLC25A4	291	HP:0000486	Strabismus
ORPHANET:1369	SLC25A4	291	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:1369	SLC25A4	291	HP:0003198	Myopathy
ORPHANET:1369	SLC25A4	291	HP:0000512	Abnormal electroretinogram
ORPHANET:1369	SLC25A4	291	HP:0000639	Nystagmus
ORPHANET:1369	SLC25A4	291	HP:0000501	Glaucoma
ORPHANET:1369	SLC25A4	291	HP:0001131	Corneal dystrophy
ORPHANET:1369	AGK	55750	HP:0000518	Cataract
ORPHANET:1369	AGK	55750	HP:0000545	Myopia
ORPHANET:1369	AGK	55750	HP:0000486	Strabismus
ORPHANET:1369	AGK	55750	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:1369	AGK	55750	HP:0003198	Myopathy
ORPHANET:1369	AGK	55750	HP:0000512	Abnormal electroretinogram
ORPHANET:1369	AGK	55750	HP:0000639	Nystagmus
ORPHANET:1369	AGK	55750	HP:0000501	Glaucoma
ORPHANET:1369	AGK	55750	HP:0001131	Corneal dystrophy
OMIM:158590	HSPB8	26353	HP:0000006	Autosomal dominant inheritance
OMIM:158590	HSPB8	26353	HP:0003445	EMG: neuropathic changes
OMIM:158590	HSPB8	26353	HP:0009053	Distal lower limb muscle weakness
OMIM:158590	HSPB1	3315	HP:0000006	Autosomal dominant inheritance
OMIM:158590	HSPB1	3315	HP:0003445	EMG: neuropathic changes
OMIM:158590	HSPB1	3315	HP:0009053	Distal lower limb muscle weakness
OMIM:158590	FBXO38	81545	HP:0000006	Autosomal dominant inheritance
OMIM:158590	FBXO38	81545	HP:0003445	EMG: neuropathic changes
OMIM:158590	FBXO38	81545	HP:0009053	Distal lower limb muscle weakness
OMIM:158590	HSPB3	8988	HP:0000006	Autosomal dominant inheritance
OMIM:158590	HSPB3	8988	HP:0003445	EMG: neuropathic changes
OMIM:158590	HSPB3	8988	HP:0009053	Distal lower limb muscle weakness
OMIM:615837	MSRB3	253827	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	BSND	7809	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	ESPN	83715	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	DFNB31	25861	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	OTOA	146183	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	GJA1	2697	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	MET	4233	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	CLDN14	23562	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	HGF	3082	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	PNPT1	87178	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	EPS8	2059	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	MYO3A	53904	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	DCDC2	51473	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	GJB2	2706	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	GRXCR2	643226	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	GJB3	2707	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	CABP2	51475	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	SERPINB6	5269	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	COL11A2	1302	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	CIB2	10518	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	FAM65B	9750	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	KARS	3735	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	LOXHD1	125336	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	TMC1	117531	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	CLIC5	53405	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	OTOF	9381	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	MYO6	4646	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	TMIE	259236	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	MYO7A	4647	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	LRTOMT	220074	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	OTOGL	283310	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	TPRN	286262	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	SLC26A4	5172	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	GJB6	10804	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	DFNB59	494513	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	ESRRB	2103	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	TMPRSS3	64699	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	PTPRQ	374462	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	SLC26A5	375611	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	PCDH15	65217	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	TSPEAR	54084	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	LHFPL5	222662	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	TRIOBP	11078	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	CDH23	64072	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	RDX	5962	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	GPSM2	29899	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	ELMOD3	84173	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	ILDR1	286676	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	GRXCR1	389207	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	MARVELD2	153562	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	STRC	161497	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	SLITRK6	84189	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	TECTA	7007	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	MYO15A	51168	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	USH1C	10083	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	ADCY1	107	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	SYNE4	163183	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	GIPC3	126326	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	TBC1D24	57465	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	OTOG	340990	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:164500	ATXN7	6314	HP:0001337	Tremor
OMIM:164500	ATXN7	6314	HP:0001268	Mental deterioration
OMIM:164500	ATXN7	6314	HP:0001310	Dysmetria
OMIM:164500	ATXN7	6314	HP:0000648	Optic atrophy
OMIM:164500	ATXN7	6314	HP:0000529	Progressive visual loss
OMIM:164500	ATXN7	6314	HP:0001146	Pigmentary retinal degeneration
OMIM:164500	ATXN7	6314	HP:0001257	Spasticity
OMIM:164500	ATXN7	6314	HP:0003487	Babinski sign
OMIM:164500	ATXN7	6314	HP:0000006	Autosomal dominant inheritance
OMIM:164500	ATXN7	6314	HP:0000639	Nystagmus
OMIM:164500	ATXN7	6314	HP:0001347	Hyperreflexia
OMIM:164500	ATXN7	6314	HP:0000608	Macular degeneration
OMIM:164500	ATXN7	6314	HP:0001260	Dysarthria
OMIM:164500	ATXN7	6314	HP:0002015	Dysphagia
OMIM:164500	ATXN7	6314	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:164500	ATXN7	6314	HP:0002072	Chorea
OMIM:303350	L1CAM	3897	HP:0004374	Hemiplegia/hemiparesis
OMIM:303350	L1CAM	3897	HP:0001181	Adducted thumb
OMIM:303350	L1CAM	3897	HP:0000252	Microcephaly
OMIM:303350	L1CAM	3897	HP:0002381	Aphasia
OMIM:303350	L1CAM	3897	HP:0002119	Ventriculomegaly
OMIM:303350	L1CAM	3897	HP:0100490	Camptodactyly of finger
OMIM:303350	L1CAM	3897	HP:0001762	Talipes equinovarus
OMIM:303350	L1CAM	3897	HP:0004209	Clinodactyly of the 5th finger
OMIM:303350	L1CAM	3897	HP:0001274	Agenesis of corpus callosum
OMIM:303350	L1CAM	3897	HP:0001761	Pes cavus
OMIM:303350	L1CAM	3897	HP:0000256	Macrocephaly
OMIM:303350	L1CAM	3897	HP:0100543	Cognitive impairment
OMIM:303350	L1CAM	3897	HP:0000486	Strabismus
OMIM:303350	L1CAM	3897	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:303350	L1CAM	3897	HP:0002167	Neurological speech impairment
OMIM:303350	L1CAM	3897	HP:0001258	Spastic paraplegia
OMIM:303350	L1CAM	3897	HP:0004322	Short stature
OMIM:303350	L1CAM	3897	HP:0000238	Hydrocephalus
OMIM:303350	L1CAM	3897	HP:0001288	Gait disturbance
OMIM:303350	L1CAM	3897	HP:0001419	X-linked recessive inheritance
OMIM:303350	L1CAM	3897	HP:0002808	Kyphosis
OMIM:303350	L1CAM	3897	HP:0003307	Hyperlordosis
OMIM:303350	L1CAM	3897	HP:0001347	Hyperreflexia
OMIM:303350	L1CAM	3897	HP:0001249	Intellectual disability
OMIM:607932	BMP4	652	HP:0000556	Retinal dystrophy
OMIM:607932	BMP4	652	HP:0001357	Plagiocephaly
OMIM:607932	BMP4	652	HP:0001508	Failure to thrive
OMIM:607932	BMP4	652	HP:0009623	Proximal placement of thumb
OMIM:607932	BMP4	652	HP:0000567	Chorioretinal coloboma
OMIM:607932	BMP4	652	HP:0000612	Iris coloboma
OMIM:607932	BMP4	652	HP:0000545	Myopia
OMIM:607932	BMP4	652	HP:0000252	Microcephaly
OMIM:607932	BMP4	652	HP:0001252	Muscular hypotonia
OMIM:607932	BMP4	652	HP:0000639	Nystagmus
OMIM:607932	BMP4	652	HP:0004443	Lambdoidal craniosynostosis
OMIM:607932	BMP4	652	HP:0006829	Severe muscular hypotonia
OMIM:607932	BMP4	652	HP:0000175	Cleft palate
OMIM:607932	BMP4	652	HP:0000411	Protruding ear
OMIM:607932	BMP4	652	HP:0000589	Coloboma
OMIM:607932	BMP4	652	HP:0011800	Hypoplasia of midface
OMIM:607932	BMP4	652	HP:0000272	Malar flattening
OMIM:607932	BMP4	652	HP:0000954	Single transverse palmar crease
OMIM:607932	BMP4	652	HP:0001231	Abnormality of the fingernails
OMIM:607932	BMP4	652	HP:0001321	Cerebellar hypoplasia
OMIM:607932	BMP4	652	HP:0008050	Abnormality of the palpebral fissures
OMIM:607932	BMP4	652	HP:0000400	Macrotia
OMIM:607932	BMP4	652	HP:0000193	Bifid uvula
OMIM:607932	BMP4	652	HP:0000324	Facial asymmetry
OMIM:607932	BMP4	652	HP:0004209	Clinodactyly of the 5th finger
OMIM:607932	BMP4	652	HP:0000369	Low-set ears
OMIM:607932	BMP4	652	HP:0001156	Brachydactyly syndrome
OMIM:607932	BMP4	652	HP:0000482	Microcornea
OMIM:607932	BMP4	652	HP:0000821	Hypothyroidism
OMIM:607932	BMP4	652	HP:0002188	Delayed CNS myelination
OMIM:607932	BMP4	652	HP:0000618	Blindness
OMIM:607932	BMP4	652	HP:0000647	Sclerocornea
OMIM:607932	BMP4	652	HP:0000048	Bifid scrotum
OMIM:607932	BMP4	652	HP:0000174	Abnormality of the palate
OMIM:607932	BMP4	652	HP:0001263	Global developmental delay
OMIM:607932	BMP4	652	HP:0000347	Micrognathia
OMIM:607932	BMP4	652	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:607932	BMP4	652	HP:0000028	Cryptorchidism
OMIM:607932	BMP4	652	HP:0000054	Micropenis
OMIM:607932	BMP4	652	HP:0000218	High palate
OMIM:607932	BMP4	652	HP:0003319	Abnormality of the cervical spine
OMIM:607932	BMP4	652	HP:0000518	Cataract
OMIM:607932	BMP4	652	HP:0001177	Preaxial hand polydactyly
OMIM:607932	BMP4	652	HP:0001770	Toe syndactyly
OMIM:607932	BMP4	652	HP:0000358	Posteriorly rotated ears
OMIM:607932	BMP4	652	HP:0000407	Sensorineural hearing impairment
OMIM:607932	BMP4	652	HP:0000864	Abnormality of the hypothalamus-pituitary axis
OMIM:607932	BMP4	652	HP:0000047	Hypospadias
OMIM:607932	BMP4	652	HP:0000248	Brachycephaly
OMIM:607932	BMP4	652	HP:0006101	Finger syndactyly
OMIM:607932	BMP4	652	HP:0000171	Microglossia
OMIM:607932	BMP4	652	HP:0002120	Cerebral cortical atrophy
OMIM:607932	BMP4	652	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:607932	BMP4	652	HP:0001250	Seizures
OMIM:607932	BMP4	652	HP:0000568	Microphthalmia
OMIM:607932	BMP4	652	HP:0000830	Anterior hypopituitarism
OMIM:607932	BMP4	652	HP:0009909	Uplifted earlobe
OMIM:607932	BMP4	652	HP:0001344	Absent speech
OMIM:607932	BMP4	652	HP:0002119	Ventriculomegaly
OMIM:607932	BMP4	652	HP:0000528	Anophthalmia
OMIM:607932	BMP4	652	HP:0000278	Retrognathia
OMIM:607932	BMP4	652	HP:0000089	Renal hypoplasia
OMIM:607932	BMP4	652	HP:0000006	Autosomal dominant inheritance
OMIM:607932	BMP4	652	HP:0000365	Hearing impairment
OMIM:607932	BMP4	652	HP:0000835	Adrenal hypoplasia
OMIM:607932	BMP4	652	HP:0005819	Short middle phalanx of finger
OMIM:607932	BMP4	652	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:607932	BMP4	652	HP:0000348	High forehead
OMIM:607932	BMP4	652	HP:0100543	Cognitive impairment
OMIM:103580	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:103580	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:103580	GNAS	2778	HP:0000639	Nystagmus
OMIM:103580	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
OMIM:103580	GNAS	2778	HP:0006960	Choroid plexus calcification
OMIM:103580	GNAS	2778	HP:0010743	Short metatarsal
OMIM:103580	GNAS	2778	HP:0001249	Intellectual disability
OMIM:103580	GNAS	2778	HP:0000293	Full cheeks
OMIM:103580	GNAS	2778	HP:0000518	Cataract
OMIM:103580	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
OMIM:103580	GNAS	2778	HP:0001156	Brachydactyly syndrome
OMIM:103580	GNAS	2778	HP:0009381	Short finger
OMIM:103580	GNAS	2778	HP:0001513	Obesity
OMIM:103580	GNAS	2778	HP:0003812	Phenotypic variability
OMIM:103580	GNAS	2778	HP:0002135	Basal ganglia calcification
OMIM:103580	GNAS	2778	HP:0000939	Osteoporosis
OMIM:103580	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:103580	GNAS	2778	HP:0000135	Hypogonadism
OMIM:103580	GNAS	2778	HP:0001831	Short toe
OMIM:103580	GNAS	2778	HP:0005280	Depressed nasal bridge
OMIM:103580	GNAS	2778	HP:0001250	Seizures
OMIM:103580	GNAS	2778	HP:0003472	Hypocalcemic tetany
OMIM:103580	GNAS	2778	HP:0100543	Cognitive impairment
OMIM:103580	GNAS	2778	HP:0002905	Hyperphosphatemia
OMIM:103580	GNAS	2778	HP:0010049	Short metacarpal
OMIM:103580	GNAS	2778	HP:0004322	Short stature
OMIM:103580	GNAS	2778	HP:0000684	Delayed eruption of teeth
OMIM:103580	GNAS	2778	HP:0000821	Hypothyroidism
OMIM:103580	GNAS	2778	HP:0000311	Round face
OMIM:103580	GNAS	2778	HP:0002684	Thickened calvaria
OMIM:103580	GNAS	2778	HP:0000470	Short neck
OMIM:614306	SCN8A	6334	HP:0000006	Autosomal dominant inheritance
OMIM:614306	SCN8A	6334	HP:0000646	Amblyopia
OMIM:614306	SCN8A	6334	HP:0001310	Dysmetria
OMIM:614306	SCN8A	6334	HP:0001260	Dysarthria
OMIM:614306	SCN8A	6334	HP:0000712	Emotional lability
OMIM:614306	SCN8A	6334	HP:0100543	Cognitive impairment
OMIM:614306	SCN8A	6334	HP:0000609	Optic nerve hypoplasia
OMIM:614306	SCN8A	6334	HP:0000640	Gaze-evoked nystagmus
OMIM:614306	SCN8A	6334	HP:0001249	Intellectual disability
OMIM:606889	PSEN2	5664	HP:0000726	Dementia
OMIM:606889	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:606889	SORL1	6653	HP:0000726	Dementia
OMIM:606889	SORL1	6653	HP:0000006	Autosomal dominant inheritance
OMIM:606889	PSEN1	5663	HP:0000726	Dementia
OMIM:606889	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:606889	APP	351	HP:0000726	Dementia
OMIM:606889	APP	351	HP:0000006	Autosomal dominant inheritance
OMIM:127550	NOP10	55505	HP:0001915	Aplastic anemia
OMIM:127550	NOP10	55505	HP:0000670	Carious teeth
OMIM:127550	NOP10	55505	HP:0005528	Bone marrow hypocellularity
OMIM:127550	NOP10	55505	HP:0001394	Cirrhosis
OMIM:127550	NOP10	55505	HP:0008070	Sparse hair
OMIM:127550	NOP10	55505	HP:0001251	Ataxia
OMIM:127550	NOP10	55505	HP:0004334	Dermal atrophy
OMIM:127550	NOP10	55505	HP:0002206	Pulmonary fibrosis
OMIM:127550	NOP10	55505	HP:0003812	Phenotypic variability
OMIM:127550	NOP10	55505	HP:0000939	Osteoporosis
OMIM:127550	NOP10	55505	HP:0001321	Cerebellar hypoplasia
OMIM:127550	NOP10	55505	HP:0001328	Specific learning disability
OMIM:127550	NOP10	55505	HP:0002216	Premature graying of hair
OMIM:127550	NOP10	55505	HP:0008404	Nail dystrophy
OMIM:127550	NOP10	55505	HP:0001873	Thrombocytopenia
OMIM:127550	NOP10	55505	HP:0002863	Myelodysplasia
OMIM:127550	NOP10	55505	HP:0001596	Alopecia
OMIM:127550	NOP10	55505	HP:0001903	Anemia
OMIM:127550	NOP10	55505	HP:0000006	Autosomal dominant inheritance
OMIM:127550	PARN	5073	HP:0001915	Aplastic anemia
OMIM:127550	PARN	5073	HP:0000670	Carious teeth
OMIM:127550	PARN	5073	HP:0005528	Bone marrow hypocellularity
OMIM:127550	PARN	5073	HP:0001394	Cirrhosis
OMIM:127550	PARN	5073	HP:0008070	Sparse hair
OMIM:127550	PARN	5073	HP:0001251	Ataxia
OMIM:127550	PARN	5073	HP:0004334	Dermal atrophy
OMIM:127550	PARN	5073	HP:0002206	Pulmonary fibrosis
OMIM:127550	PARN	5073	HP:0003812	Phenotypic variability
OMIM:127550	PARN	5073	HP:0000939	Osteoporosis
OMIM:127550	PARN	5073	HP:0001321	Cerebellar hypoplasia
OMIM:127550	PARN	5073	HP:0001328	Specific learning disability
OMIM:127550	PARN	5073	HP:0002216	Premature graying of hair
OMIM:127550	PARN	5073	HP:0008404	Nail dystrophy
OMIM:127550	PARN	5073	HP:0001873	Thrombocytopenia
OMIM:127550	PARN	5073	HP:0002863	Myelodysplasia
OMIM:127550	PARN	5073	HP:0001596	Alopecia
OMIM:127550	PARN	5073	HP:0001903	Anemia
OMIM:127550	PARN	5073	HP:0000006	Autosomal dominant inheritance
OMIM:127550	NHP2	55651	HP:0001915	Aplastic anemia
OMIM:127550	NHP2	55651	HP:0000670	Carious teeth
OMIM:127550	NHP2	55651	HP:0005528	Bone marrow hypocellularity
OMIM:127550	NHP2	55651	HP:0001394	Cirrhosis
OMIM:127550	NHP2	55651	HP:0008070	Sparse hair
OMIM:127550	NHP2	55651	HP:0001251	Ataxia
OMIM:127550	NHP2	55651	HP:0004334	Dermal atrophy
OMIM:127550	NHP2	55651	HP:0002206	Pulmonary fibrosis
OMIM:127550	NHP2	55651	HP:0003812	Phenotypic variability
OMIM:127550	NHP2	55651	HP:0000939	Osteoporosis
OMIM:127550	NHP2	55651	HP:0001321	Cerebellar hypoplasia
OMIM:127550	NHP2	55651	HP:0001328	Specific learning disability
OMIM:127550	NHP2	55651	HP:0002216	Premature graying of hair
OMIM:127550	NHP2	55651	HP:0008404	Nail dystrophy
OMIM:127550	NHP2	55651	HP:0001873	Thrombocytopenia
OMIM:127550	NHP2	55651	HP:0002863	Myelodysplasia
OMIM:127550	NHP2	55651	HP:0001596	Alopecia
OMIM:127550	NHP2	55651	HP:0001903	Anemia
OMIM:127550	NHP2	55651	HP:0000006	Autosomal dominant inheritance
OMIM:127550	USB1	79650	HP:0001915	Aplastic anemia
OMIM:127550	USB1	79650	HP:0000670	Carious teeth
OMIM:127550	USB1	79650	HP:0005528	Bone marrow hypocellularity
OMIM:127550	USB1	79650	HP:0001394	Cirrhosis
OMIM:127550	USB1	79650	HP:0008070	Sparse hair
OMIM:127550	USB1	79650	HP:0001251	Ataxia
OMIM:127550	USB1	79650	HP:0004334	Dermal atrophy
OMIM:127550	USB1	79650	HP:0002206	Pulmonary fibrosis
OMIM:127550	USB1	79650	HP:0003812	Phenotypic variability
OMIM:127550	USB1	79650	HP:0000939	Osteoporosis
OMIM:127550	USB1	79650	HP:0001321	Cerebellar hypoplasia
OMIM:127550	USB1	79650	HP:0001328	Specific learning disability
OMIM:127550	USB1	79650	HP:0002216	Premature graying of hair
OMIM:127550	USB1	79650	HP:0008404	Nail dystrophy
OMIM:127550	USB1	79650	HP:0001873	Thrombocytopenia
OMIM:127550	USB1	79650	HP:0002863	Myelodysplasia
OMIM:127550	USB1	79650	HP:0001596	Alopecia
OMIM:127550	USB1	79650	HP:0001903	Anemia
OMIM:127550	USB1	79650	HP:0000006	Autosomal dominant inheritance
OMIM:127550	TERC	7012	HP:0001915	Aplastic anemia
OMIM:127550	TERC	7012	HP:0000670	Carious teeth
OMIM:127550	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:127550	TERC	7012	HP:0001394	Cirrhosis
OMIM:127550	TERC	7012	HP:0008070	Sparse hair
OMIM:127550	TERC	7012	HP:0001251	Ataxia
OMIM:127550	TERC	7012	HP:0004334	Dermal atrophy
OMIM:127550	TERC	7012	HP:0002206	Pulmonary fibrosis
OMIM:127550	TERC	7012	HP:0003812	Phenotypic variability
OMIM:127550	TERC	7012	HP:0000939	Osteoporosis
OMIM:127550	TERC	7012	HP:0001321	Cerebellar hypoplasia
OMIM:127550	TERC	7012	HP:0001328	Specific learning disability
OMIM:127550	TERC	7012	HP:0002216	Premature graying of hair
OMIM:127550	TERC	7012	HP:0008404	Nail dystrophy
OMIM:127550	TERC	7012	HP:0001873	Thrombocytopenia
OMIM:127550	TERC	7012	HP:0002863	Myelodysplasia
OMIM:127550	TERC	7012	HP:0001596	Alopecia
OMIM:127550	TERC	7012	HP:0001903	Anemia
OMIM:127550	TERC	7012	HP:0000006	Autosomal dominant inheritance
OMIM:127550	TINF2	26277	HP:0001915	Aplastic anemia
OMIM:127550	TINF2	26277	HP:0000670	Carious teeth
OMIM:127550	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:127550	TINF2	26277	HP:0001394	Cirrhosis
OMIM:127550	TINF2	26277	HP:0008070	Sparse hair
OMIM:127550	TINF2	26277	HP:0001251	Ataxia
OMIM:127550	TINF2	26277	HP:0004334	Dermal atrophy
OMIM:127550	TINF2	26277	HP:0002206	Pulmonary fibrosis
OMIM:127550	TINF2	26277	HP:0003812	Phenotypic variability
OMIM:127550	TINF2	26277	HP:0000939	Osteoporosis
OMIM:127550	TINF2	26277	HP:0001321	Cerebellar hypoplasia
OMIM:127550	TINF2	26277	HP:0001328	Specific learning disability
OMIM:127550	TINF2	26277	HP:0002216	Premature graying of hair
OMIM:127550	TINF2	26277	HP:0008404	Nail dystrophy
OMIM:127550	TINF2	26277	HP:0001873	Thrombocytopenia
OMIM:127550	TINF2	26277	HP:0002863	Myelodysplasia
OMIM:127550	TINF2	26277	HP:0001596	Alopecia
OMIM:127550	TINF2	26277	HP:0001903	Anemia
OMIM:127550	TINF2	26277	HP:0000006	Autosomal dominant inheritance
OMIM:127550	RTEL1	51750	HP:0001915	Aplastic anemia
OMIM:127550	RTEL1	51750	HP:0000670	Carious teeth
OMIM:127550	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
OMIM:127550	RTEL1	51750	HP:0001394	Cirrhosis
OMIM:127550	RTEL1	51750	HP:0008070	Sparse hair
OMIM:127550	RTEL1	51750	HP:0001251	Ataxia
OMIM:127550	RTEL1	51750	HP:0004334	Dermal atrophy
OMIM:127550	RTEL1	51750	HP:0002206	Pulmonary fibrosis
OMIM:127550	RTEL1	51750	HP:0003812	Phenotypic variability
OMIM:127550	RTEL1	51750	HP:0000939	Osteoporosis
OMIM:127550	RTEL1	51750	HP:0001321	Cerebellar hypoplasia
OMIM:127550	RTEL1	51750	HP:0001328	Specific learning disability
OMIM:127550	RTEL1	51750	HP:0002216	Premature graying of hair
OMIM:127550	RTEL1	51750	HP:0008404	Nail dystrophy
OMIM:127550	RTEL1	51750	HP:0001873	Thrombocytopenia
OMIM:127550	RTEL1	51750	HP:0002863	Myelodysplasia
OMIM:127550	RTEL1	51750	HP:0001596	Alopecia
OMIM:127550	RTEL1	51750	HP:0001903	Anemia
OMIM:127550	RTEL1	51750	HP:0000006	Autosomal dominant inheritance
OMIM:127550	TERT	7015	HP:0001915	Aplastic anemia
OMIM:127550	TERT	7015	HP:0000670	Carious teeth
OMIM:127550	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:127550	TERT	7015	HP:0001394	Cirrhosis
OMIM:127550	TERT	7015	HP:0008070	Sparse hair
OMIM:127550	TERT	7015	HP:0001251	Ataxia
OMIM:127550	TERT	7015	HP:0004334	Dermal atrophy
OMIM:127550	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:127550	TERT	7015	HP:0003812	Phenotypic variability
OMIM:127550	TERT	7015	HP:0000939	Osteoporosis
OMIM:127550	TERT	7015	HP:0001321	Cerebellar hypoplasia
OMIM:127550	TERT	7015	HP:0001328	Specific learning disability
OMIM:127550	TERT	7015	HP:0002216	Premature graying of hair
OMIM:127550	TERT	7015	HP:0008404	Nail dystrophy
OMIM:127550	TERT	7015	HP:0001873	Thrombocytopenia
OMIM:127550	TERT	7015	HP:0002863	Myelodysplasia
OMIM:127550	TERT	7015	HP:0001596	Alopecia
OMIM:127550	TERT	7015	HP:0001903	Anemia
OMIM:127550	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:127550	DKC1	1736	HP:0001915	Aplastic anemia
OMIM:127550	DKC1	1736	HP:0000670	Carious teeth
OMIM:127550	DKC1	1736	HP:0005528	Bone marrow hypocellularity
OMIM:127550	DKC1	1736	HP:0001394	Cirrhosis
OMIM:127550	DKC1	1736	HP:0008070	Sparse hair
OMIM:127550	DKC1	1736	HP:0001251	Ataxia
OMIM:127550	DKC1	1736	HP:0004334	Dermal atrophy
OMIM:127550	DKC1	1736	HP:0002206	Pulmonary fibrosis
OMIM:127550	DKC1	1736	HP:0003812	Phenotypic variability
OMIM:127550	DKC1	1736	HP:0000939	Osteoporosis
OMIM:127550	DKC1	1736	HP:0001321	Cerebellar hypoplasia
OMIM:127550	DKC1	1736	HP:0001328	Specific learning disability
OMIM:127550	DKC1	1736	HP:0002216	Premature graying of hair
OMIM:127550	DKC1	1736	HP:0008404	Nail dystrophy
OMIM:127550	DKC1	1736	HP:0001873	Thrombocytopenia
OMIM:127550	DKC1	1736	HP:0002863	Myelodysplasia
OMIM:127550	DKC1	1736	HP:0001596	Alopecia
OMIM:127550	DKC1	1736	HP:0001903	Anemia
OMIM:127550	DKC1	1736	HP:0000006	Autosomal dominant inheritance
OMIM:127550	CTC1	80169	HP:0001915	Aplastic anemia
OMIM:127550	CTC1	80169	HP:0000670	Carious teeth
OMIM:127550	CTC1	80169	HP:0005528	Bone marrow hypocellularity
OMIM:127550	CTC1	80169	HP:0001394	Cirrhosis
OMIM:127550	CTC1	80169	HP:0008070	Sparse hair
OMIM:127550	CTC1	80169	HP:0001251	Ataxia
OMIM:127550	CTC1	80169	HP:0004334	Dermal atrophy
OMIM:127550	CTC1	80169	HP:0002206	Pulmonary fibrosis
OMIM:127550	CTC1	80169	HP:0003812	Phenotypic variability
OMIM:127550	CTC1	80169	HP:0000939	Osteoporosis
OMIM:127550	CTC1	80169	HP:0001321	Cerebellar hypoplasia
OMIM:127550	CTC1	80169	HP:0001328	Specific learning disability
OMIM:127550	CTC1	80169	HP:0002216	Premature graying of hair
OMIM:127550	CTC1	80169	HP:0008404	Nail dystrophy
OMIM:127550	CTC1	80169	HP:0001873	Thrombocytopenia
OMIM:127550	CTC1	80169	HP:0002863	Myelodysplasia
OMIM:127550	CTC1	80169	HP:0001596	Alopecia
OMIM:127550	CTC1	80169	HP:0001903	Anemia
OMIM:127550	CTC1	80169	HP:0000006	Autosomal dominant inheritance
OMIM:127550	WRAP53	55135	HP:0001915	Aplastic anemia
OMIM:127550	WRAP53	55135	HP:0000670	Carious teeth
OMIM:127550	WRAP53	55135	HP:0005528	Bone marrow hypocellularity
OMIM:127550	WRAP53	55135	HP:0001394	Cirrhosis
OMIM:127550	WRAP53	55135	HP:0008070	Sparse hair
OMIM:127550	WRAP53	55135	HP:0001251	Ataxia
OMIM:127550	WRAP53	55135	HP:0004334	Dermal atrophy
OMIM:127550	WRAP53	55135	HP:0002206	Pulmonary fibrosis
OMIM:127550	WRAP53	55135	HP:0003812	Phenotypic variability
OMIM:127550	WRAP53	55135	HP:0000939	Osteoporosis
OMIM:127550	WRAP53	55135	HP:0001321	Cerebellar hypoplasia
OMIM:127550	WRAP53	55135	HP:0001328	Specific learning disability
OMIM:127550	WRAP53	55135	HP:0002216	Premature graying of hair
OMIM:127550	WRAP53	55135	HP:0008404	Nail dystrophy
OMIM:127550	WRAP53	55135	HP:0001873	Thrombocytopenia
OMIM:127550	WRAP53	55135	HP:0002863	Myelodysplasia
OMIM:127550	WRAP53	55135	HP:0001596	Alopecia
OMIM:127550	WRAP53	55135	HP:0001903	Anemia
OMIM:127550	WRAP53	55135	HP:0000006	Autosomal dominant inheritance
OMIM:614592	FGFR2	2263	HP:0004440	Coronal craniosynostosis
OMIM:614592	FGFR2	2263	HP:0000057	Clitoromegaly
OMIM:614592	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:614592	FGFR2	2263	HP:0000272	Malar flattening
OMIM:614592	FGFR2	2263	HP:0001433	Hepatosplenomegaly
OMIM:614592	FGFR2	2263	HP:0000369	Low-set ears
OMIM:614592	FGFR2	2263	HP:0001591	Bell-shaped thorax
OMIM:614592	FGFR2	2263	HP:0000894	Short clavicles
OMIM:614592	FGFR2	2263	HP:0011800	Hypoplasia of midface
OMIM:614592	FGFR2	2263	HP:0000212	Gingival overgrowth
OMIM:614592	FGFR2	2263	HP:0000347	Micrognathia
OMIM:614592	FGFR2	2263	HP:0001007	Hirsutism
OMIM:614592	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:614592	FGFR2	2263	HP:0001156	Brachydactyly syndrome
OMIM:607371	ACTB	60	HP:0002983	Micromelia
OMIM:607371	ACTB	60	HP:0002751	Kyphoscoliosis
OMIM:607371	ACTB	60	HP:0011342	Mild global developmental delay
OMIM:607371	ACTB	60	HP:0002808	Kyphosis
OMIM:607371	ACTB	60	HP:0000518	Cataract
OMIM:607371	ACTB	60	HP:0008872	Feeding difficulties in infancy
OMIM:607371	ACTB	60	HP:0000348	High forehead
OMIM:607371	ACTB	60	HP:0000407	Sensorineural hearing impairment
OMIM:607371	ACTB	60	HP:0000505	Visual impairment
OMIM:607371	ACTB	60	HP:0000175	Cleft palate
OMIM:607371	ACTB	60	HP:0004322	Short stature
OMIM:607371	ACTB	60	HP:0000157	Abnormality of the tongue
OMIM:607371	ACTB	60	HP:0001256	Intellectual disability, mild
OMIM:607371	ACTB	60	HP:0002650	Scoliosis
OMIM:607371	ACTB	60	HP:0010978	Abnormality of immune system physiology
OMIM:607371	ACTB	60	HP:0002571	Achalasia
OMIM:607371	ACTB	60	HP:0000006	Autosomal dominant inheritance
OMIM:607371	ACTB	60	HP:0100543	Cognitive impairment
OMIM:607371	ACTB	60	HP:0000882	Hypoplastic scapulae
OMIM:607371	ACTB	60	HP:0002579	Gastrointestinal dysmotility
OMIM:607371	ACTB	60	HP:0001518	Small for gestational age
OMIM:607371	ACTB	60	HP:0002376	Developmental regression
OMIM:607371	ACTB	60	HP:0000202	Oral cleft
OMIM:607371	ACTB	60	HP:0000316	Hypertelorism
OMIM:607371	ACTB	60	HP:0000204	Cleft upper lip
OMIM:607371	ACTB	60	HP:0000912	Sprengel anomaly
OMIM:607371	ACTB	60	HP:0003272	Abnormality of the hip bone
OMIM:300600	CACNA1F	778	HP:0000639	Nystagmus
OMIM:300600	CACNA1F	778	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:300600	CACNA1F	778	HP:0001022	Albinism
OMIM:300600	CACNA1F	778	HP:0000483	Astigmatism
OMIM:300600	CACNA1F	778	HP:0000545	Myopia
OMIM:300600	CACNA1F	778	HP:0001417	X-linked inheritance
OMIM:300600	CACNA1F	778	HP:0001141	Severe visual impairment
OMIM:613411	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613411	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:613411	GRK1	6011	HP:0000007	Autosomal recessive inheritance
OMIM:613411	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:615619	PTPN3	5774	HP:0002039	Anorexia
OMIM:615619	PTPN3	5774	HP:0000989	Pruritus
OMIM:615619	PTPN3	5774	HP:0002027	Abdominal pain
OMIM:615619	PTPN3	5774	HP:0001824	Weight loss
OMIM:615619	PTPN3	5774	HP:0003110	Abnormality of urine homeostasis
OMIM:615619	PTPN3	5774	HP:0004370	Abnormality of temperature regulation
OMIM:237300	CPS1	1373	HP:0001252	Muscular hypotonia
OMIM:237300	CPS1	1373	HP:0005961	Hypoargininemia
OMIM:237300	CPS1	1373	HP:0002013	Vomiting
OMIM:237300	CPS1	1373	HP:0001263	Global developmental delay
OMIM:237300	CPS1	1373	HP:0001987	Hyperammonemia
OMIM:237300	CPS1	1373	HP:0001254	Lethargy
OMIM:237300	CPS1	1373	HP:0001297	Stroke
OMIM:237300	CPS1	1373	HP:0001508	Failure to thrive
OMIM:237300	CPS1	1373	HP:0001250	Seizures
OMIM:237300	CPS1	1373	HP:0001950	Respiratory alkalosis
OMIM:237300	CPS1	1373	HP:0002181	Cerebral edema
OMIM:237300	CPS1	1373	HP:0001951	Episodic ammonia intoxication
OMIM:237300	CPS1	1373	HP:0000737	Irritability
OMIM:237300	CPS1	1373	HP:0000007	Autosomal recessive inheritance
OMIM:237300	CPS1	1373	HP:0002093	Respiratory insufficiency
OMIM:237300	CPS1	1373	HP:0003355	Aminoaciduria
OMIM:237300	CPS1	1373	HP:0001249	Intellectual disability
OMIM:237300	CPS1	1373	HP:0001259	Coma
OMIM:237300	CPS1	1373	HP:0002038	Protein avoidance
OMIM:237300	CPS1	1373	HP:0001251	Ataxia
OMIM:613135	SLC6A3	6531	HP:0002067	Bradykinesia
OMIM:613135	SLC6A3	6531	HP:0011968	Feeding difficulties
OMIM:613135	SLC6A3	6531	HP:0002072	Chorea
OMIM:613135	SLC6A3	6531	HP:0007256	Abnormal pyramidal signs
OMIM:613135	SLC6A3	6531	HP:0008936	Muscular hypotonia of the trunk
OMIM:613135	SLC6A3	6531	HP:0002020	Gastroesophageal reflux
OMIM:613135	SLC6A3	6531	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:613135	SLC6A3	6531	HP:0002019	Constipation
OMIM:613135	SLC6A3	6531	HP:0001276	Hypertonia
OMIM:613135	SLC6A3	6531	HP:0000007	Autosomal recessive inheritance
OMIM:613135	SLC6A3	6531	HP:0001337	Tremor
OMIM:613135	SLC6A3	6531	HP:0100660	Dyskinesia
OMIM:613135	SLC6A3	6531	HP:0002451	Limb dystonia
OMIM:613135	SLC6A3	6531	HP:0003593	Infantile onset
OMIM:613135	SLC6A3	6531	HP:0001300	Parkinsonism
OMIM:613135	SLC6A3	6531	HP:0002063	Rigidity
OMIM:613135	SLC6A3	6531	HP:0002194	Delayed gross motor development
OMIM:613135	SLC6A3	6531	HP:0003676	Progressive
OMIM:613135	SLC6A3	6531	HP:0001263	Global developmental delay
OMIM:255160	MYH7	4625	HP:0000218	High palate
OMIM:255160	MYH7	4625	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255160	MYH7	4625	HP:0003458	EMG: myopathic abnormalities
OMIM:255160	MYH7	4625	HP:0002093	Respiratory insufficiency
OMIM:255160	MYH7	4625	HP:0000007	Autosomal recessive inheritance
OMIM:255160	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:255160	MYH7	4625	HP:0003236	Elevated serum creatine phosphokinase
OMIM:255160	MYH7	4625	HP:0003677	Slow progression
OMIM:255160	MYH7	4625	HP:0001639	Hypertrophic cardiomyopathy
OMIM:255160	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:255160	MYH7	4625	HP:0002650	Scoliosis
OMIM:616266	NALCN	259232	HP:0000431	Wide nasal bridge
OMIM:616266	NALCN	259232	HP:0001252	Muscular hypotonia
OMIM:616266	NALCN	259232	HP:0001263	Global developmental delay
OMIM:616266	NALCN	259232	HP:0003273	Hip contracture
OMIM:616266	NALCN	259232	HP:0012385	Camptodactyly
OMIM:616266	NALCN	259232	HP:0000023	Inguinal hernia
OMIM:616266	NALCN	259232	HP:0006380	Knee flexion contracture
OMIM:616266	NALCN	259232	HP:0000750	Delayed speech and language development
OMIM:616266	NALCN	259232	HP:0000470	Short neck
OMIM:616266	NALCN	259232	HP:0000293	Full cheeks
OMIM:616266	NALCN	259232	HP:0001181	Adducted thumb
OMIM:616266	NALCN	259232	HP:0001272	Cerebellar atrophy
OMIM:616266	NALCN	259232	HP:0002059	Cerebral atrophy
OMIM:616266	NALCN	259232	HP:0002650	Scoliosis
OMIM:616266	NALCN	259232	HP:0002987	Elbow flexion contracture
OMIM:616266	NALCN	259232	HP:0001537	Umbilical hernia
OMIM:616266	NALCN	259232	HP:0002020	Gastroesophageal reflux
OMIM:616266	NALCN	259232	HP:0000347	Micrognathia
OMIM:616266	NALCN	259232	HP:0000343	Long philtrum
OMIM:616266	NALCN	259232	HP:0002803	Congenital contracture
OMIM:600092	HHAT	55733	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:600092	HHAT	55733	HP:0100543	Cognitive impairment
OMIM:600092	HHAT	55733	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:600092	HHAT	55733	HP:0002983	Micromelia
OMIM:600092	HHAT	55733	HP:0001320	Cerebellar vermis hypoplasia
OMIM:600092	HHAT	55733	HP:0000252	Microcephaly
OMIM:600092	HHAT	55733	HP:0001591	Bell-shaped thorax
OMIM:600092	HHAT	55733	HP:0001511	Intrauterine growth retardation
OMIM:600092	HHAT	55733	HP:0000490	Deeply set eye
OMIM:600092	HHAT	55733	HP:0000506	Telecanthus
OMIM:600092	HHAT	55733	HP:0003510	Severe short stature
OMIM:600092	HHAT	55733	HP:0010049	Short metacarpal
OMIM:600092	HHAT	55733	HP:0004322	Short stature
OMIM:600092	HHAT	55733	HP:0000615	Abnormality of the pupil
OMIM:600092	HHAT	55733	HP:0000774	Narrow chest
OMIM:600092	HHAT	55733	HP:0004493	Craniofacial hyperostosis
OMIM:600092	HHAT	55733	HP:0000037	Male pseudohermaphroditism
OMIM:600092	HHAT	55733	HP:0000567	Chorioretinal coloboma
OMIM:600092	HHAT	55733	HP:0000581	Blepharophimosis
OMIM:600092	HHAT	55733	HP:0000889	Abnormality of the clavicle
OMIM:600092	HHAT	55733	HP:0008053	Aplasia/Hypoplasia of the iris
OMIM:600092	HHAT	55733	HP:0003312	Abnormal form of the vertebral bodies
OMIM:600092	HHAT	55733	HP:0003043	Abnormality of the shoulder
OMIM:600092	HHAT	55733	HP:0000486	Strabismus
OMIM:600092	HHAT	55733	HP:0000400	Macrotia
OMIM:600092	HHAT	55733	HP:0009803	Short phalanx of finger
OMIM:600231	AQP5	362	HP:0000982	Palmoplantar keratoderma
OMIM:600231	AQP5	362	HP:0000006	Autosomal dominant inheritance
OMIM:600231	AQP5	362	HP:0200042	Skin ulcer
OMIM:600231	AQP5	362	HP:0000989	Pruritus
OMIM:135900	ARID1A	8289	HP:0000179	Thick lower lip vermilion
OMIM:135900	ARID1A	8289	HP:0000151	Aplasia of the uterus
OMIM:135900	ARID1A	8289	HP:0000252	Microcephaly
OMIM:135900	ARID1A	8289	HP:0002205	Recurrent respiratory infections
OMIM:135900	ARID1A	8289	HP:0000028	Cryptorchidism
OMIM:135900	ARID1A	8289	HP:0009747	Lumbosacral hirsutism
OMIM:135900	ARID1A	8289	HP:0001249	Intellectual disability
OMIM:135900	ARID1A	8289	HP:0100391	Short distal phalanx of the 5th toe
OMIM:135900	ARID1A	8289	HP:0001305	Dandy-Walker malformation
OMIM:135900	ARID1A	8289	HP:0000175	Cleft palate
OMIM:135900	ARID1A	8289	HP:0000729	Autistic behavior
OMIM:135900	ARID1A	8289	HP:0001636	Tetralogy of Fallot
OMIM:135900	ARID1A	8289	HP:0001643	Patent ductus arteriosus
OMIM:135900	ARID1A	8289	HP:0001629	Ventricular septal defect
OMIM:135900	ARID1A	8289	HP:0000455	Broad nasal tip
OMIM:135900	ARID1A	8289	HP:0008398	Hypoplastic fifth fingernail
OMIM:135900	ARID1A	8289	HP:0000218	High palate
OMIM:135900	ARID1A	8289	HP:0000086	Ectopic kidney
OMIM:135900	ARID1A	8289	HP:0001250	Seizures
OMIM:135900	ARID1A	8289	HP:0000508	Ptosis
OMIM:135900	ARID1A	8289	HP:0000639	Nystagmus
OMIM:135900	ARID1A	8289	HP:0002808	Kyphosis
OMIM:135900	ARID1A	8289	HP:0003298	Spina bifida occulta
OMIM:135900	ARID1A	8289	HP:0006863	Severe expressive language delay
OMIM:135900	ARID1A	8289	HP:0000280	Coarse facial features
OMIM:135900	ARID1A	8289	HP:0004322	Short stature
OMIM:135900	ARID1A	8289	HP:0000527	Long eyelashes
OMIM:135900	ARID1A	8289	HP:0000684	Delayed eruption of teeth
OMIM:135900	ARID1A	8289	HP:0000089	Renal hypoplasia
OMIM:135900	ARID1A	8289	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:135900	ARID1A	8289	HP:0000545	Myopia
OMIM:135900	ARID1A	8289	HP:0001388	Joint laxity
OMIM:135900	ARID1A	8289	HP:0003083	Dislocated radial head
OMIM:135900	ARID1A	8289	HP:0000954	Single transverse palmar crease
OMIM:135900	ARID1A	8289	HP:0001028	Hemangioma
OMIM:135900	ARID1A	8289	HP:0001631	Atria septal defect
OMIM:135900	ARID1A	8289	HP:0000965	Cutis marmorata
OMIM:135900	ARID1A	8289	HP:0002079	Hypoplasia of the corpus callosum
OMIM:135900	ARID1A	8289	HP:0002566	Intestinal malrotation
OMIM:135900	ARID1A	8289	HP:0002673	Coxa valga
OMIM:135900	ARID1A	8289	HP:0001511	Intrauterine growth retardation
OMIM:135900	ARID1A	8289	HP:0000154	Wide mouth
OMIM:135900	ARID1A	8289	HP:0002209	Sparse scalp hair
OMIM:135900	ARID1A	8289	HP:0008897	Postnatal growth retardation
OMIM:135900	ARID1A	8289	HP:0000047	Hypospadias
OMIM:135900	ARID1A	8289	HP:0002592	Gastric ulcer
OMIM:135900	ARID1A	8289	HP:0000483	Astigmatism
OMIM:135900	ARID1A	8289	HP:0008872	Feeding difficulties in infancy
OMIM:135900	ARID1A	8289	HP:0000126	Hydronephrosis
OMIM:135900	ARID1A	8289	HP:0000574	Thick eyebrow
OMIM:135900	ARID1A	8289	HP:0002576	Intussusception
OMIM:135900	ARID1A	8289	HP:0004227	Short distal phalanx of the 5th finger
OMIM:135900	ARID1A	8289	HP:0000023	Inguinal hernia
OMIM:135900	ARID1A	8289	HP:0000601	Hypotelorism
OMIM:135900	ARID1A	8289	HP:0000879	Short sternum
OMIM:135900	ARID1A	8289	HP:0002588	Duodenal ulcer
OMIM:135900	ARID1A	8289	HP:0002219	Facial hypertrichosis
OMIM:135900	ARID1A	8289	HP:0001252	Muscular hypotonia
OMIM:135900	ARID1A	8289	HP:0000960	Sacral dimple
OMIM:135900	ARID1A	8289	HP:0001338	Partial agenesis of the corpus callosum
OMIM:135900	ARID1A	8289	HP:0000365	Hearing impairment
OMIM:135900	ARID1A	8289	HP:0002750	Delayed skeletal maturation
OMIM:135900	ARID1A	8289	HP:0000007	Autosomal recessive inheritance
OMIM:135900	ARID1A	8289	HP:0000453	Choanal atresia
OMIM:135900	ARID1A	8289	HP:0002650	Scoliosis
OMIM:135900	ARID1A	8289	HP:0000486	Strabismus
OMIM:135900	ARID1A	8289	HP:0000776	Congenital diaphragmatic hernia
OMIM:135900	ARID1A	8289	HP:0000384	Preauricular skin tag
OMIM:135900	ARID1A	8289	HP:0000718	Aggressive behavior
OMIM:135900	ARID1A	8289	HP:0001537	Umbilical hernia
OMIM:135900	ARID1A	8289	HP:0005280	Depressed nasal bridge
OMIM:135900	ARID1B	57492	HP:0000179	Thick lower lip vermilion
OMIM:135900	ARID1B	57492	HP:0000151	Aplasia of the uterus
OMIM:135900	ARID1B	57492	HP:0000252	Microcephaly
OMIM:135900	ARID1B	57492	HP:0002205	Recurrent respiratory infections
OMIM:135900	ARID1B	57492	HP:0000028	Cryptorchidism
OMIM:135900	ARID1B	57492	HP:0009747	Lumbosacral hirsutism
OMIM:135900	ARID1B	57492	HP:0001249	Intellectual disability
OMIM:135900	ARID1B	57492	HP:0100391	Short distal phalanx of the 5th toe
OMIM:135900	ARID1B	57492	HP:0001305	Dandy-Walker malformation
OMIM:135900	ARID1B	57492	HP:0000175	Cleft palate
OMIM:135900	ARID1B	57492	HP:0000729	Autistic behavior
OMIM:135900	ARID1B	57492	HP:0001636	Tetralogy of Fallot
OMIM:135900	ARID1B	57492	HP:0001643	Patent ductus arteriosus
OMIM:135900	ARID1B	57492	HP:0001629	Ventricular septal defect
OMIM:135900	ARID1B	57492	HP:0000455	Broad nasal tip
OMIM:135900	ARID1B	57492	HP:0008398	Hypoplastic fifth fingernail
OMIM:135900	ARID1B	57492	HP:0000218	High palate
OMIM:135900	ARID1B	57492	HP:0000086	Ectopic kidney
OMIM:135900	ARID1B	57492	HP:0001250	Seizures
OMIM:135900	ARID1B	57492	HP:0000508	Ptosis
OMIM:135900	ARID1B	57492	HP:0000639	Nystagmus
OMIM:135900	ARID1B	57492	HP:0002808	Kyphosis
OMIM:135900	ARID1B	57492	HP:0003298	Spina bifida occulta
OMIM:135900	ARID1B	57492	HP:0006863	Severe expressive language delay
OMIM:135900	ARID1B	57492	HP:0000280	Coarse facial features
OMIM:135900	ARID1B	57492	HP:0004322	Short stature
OMIM:135900	ARID1B	57492	HP:0000527	Long eyelashes
OMIM:135900	ARID1B	57492	HP:0000684	Delayed eruption of teeth
OMIM:135900	ARID1B	57492	HP:0000089	Renal hypoplasia
OMIM:135900	ARID1B	57492	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:135900	ARID1B	57492	HP:0000545	Myopia
OMIM:135900	ARID1B	57492	HP:0001388	Joint laxity
OMIM:135900	ARID1B	57492	HP:0003083	Dislocated radial head
OMIM:135900	ARID1B	57492	HP:0000954	Single transverse palmar crease
OMIM:135900	ARID1B	57492	HP:0001028	Hemangioma
OMIM:135900	ARID1B	57492	HP:0001631	Atria septal defect
OMIM:135900	ARID1B	57492	HP:0000965	Cutis marmorata
OMIM:135900	ARID1B	57492	HP:0002079	Hypoplasia of the corpus callosum
OMIM:135900	ARID1B	57492	HP:0002566	Intestinal malrotation
OMIM:135900	ARID1B	57492	HP:0002673	Coxa valga
OMIM:135900	ARID1B	57492	HP:0001511	Intrauterine growth retardation
OMIM:135900	ARID1B	57492	HP:0000154	Wide mouth
OMIM:135900	ARID1B	57492	HP:0002209	Sparse scalp hair
OMIM:135900	ARID1B	57492	HP:0008897	Postnatal growth retardation
OMIM:135900	ARID1B	57492	HP:0000047	Hypospadias
OMIM:135900	ARID1B	57492	HP:0002592	Gastric ulcer
OMIM:135900	ARID1B	57492	HP:0000483	Astigmatism
OMIM:135900	ARID1B	57492	HP:0008872	Feeding difficulties in infancy
OMIM:135900	ARID1B	57492	HP:0000126	Hydronephrosis
OMIM:135900	ARID1B	57492	HP:0000574	Thick eyebrow
OMIM:135900	ARID1B	57492	HP:0002576	Intussusception
OMIM:135900	ARID1B	57492	HP:0004227	Short distal phalanx of the 5th finger
OMIM:135900	ARID1B	57492	HP:0000023	Inguinal hernia
OMIM:135900	ARID1B	57492	HP:0000601	Hypotelorism
OMIM:135900	ARID1B	57492	HP:0000879	Short sternum
OMIM:135900	ARID1B	57492	HP:0002588	Duodenal ulcer
OMIM:135900	ARID1B	57492	HP:0002219	Facial hypertrichosis
OMIM:135900	ARID1B	57492	HP:0001252	Muscular hypotonia
OMIM:135900	ARID1B	57492	HP:0000960	Sacral dimple
OMIM:135900	ARID1B	57492	HP:0001338	Partial agenesis of the corpus callosum
OMIM:135900	ARID1B	57492	HP:0000365	Hearing impairment
OMIM:135900	ARID1B	57492	HP:0002750	Delayed skeletal maturation
OMIM:135900	ARID1B	57492	HP:0000007	Autosomal recessive inheritance
OMIM:135900	ARID1B	57492	HP:0000453	Choanal atresia
OMIM:135900	ARID1B	57492	HP:0002650	Scoliosis
OMIM:135900	ARID1B	57492	HP:0000486	Strabismus
OMIM:135900	ARID1B	57492	HP:0000776	Congenital diaphragmatic hernia
OMIM:135900	ARID1B	57492	HP:0000384	Preauricular skin tag
OMIM:135900	ARID1B	57492	HP:0000718	Aggressive behavior
OMIM:135900	ARID1B	57492	HP:0001537	Umbilical hernia
OMIM:135900	ARID1B	57492	HP:0005280	Depressed nasal bridge
OMIM:135900	SMARCA4	6597	HP:0000179	Thick lower lip vermilion
OMIM:135900	SMARCA4	6597	HP:0000151	Aplasia of the uterus
OMIM:135900	SMARCA4	6597	HP:0000252	Microcephaly
OMIM:135900	SMARCA4	6597	HP:0002205	Recurrent respiratory infections
OMIM:135900	SMARCA4	6597	HP:0000028	Cryptorchidism
OMIM:135900	SMARCA4	6597	HP:0009747	Lumbosacral hirsutism
OMIM:135900	SMARCA4	6597	HP:0001249	Intellectual disability
OMIM:135900	SMARCA4	6597	HP:0100391	Short distal phalanx of the 5th toe
OMIM:135900	SMARCA4	6597	HP:0001305	Dandy-Walker malformation
OMIM:135900	SMARCA4	6597	HP:0000175	Cleft palate
OMIM:135900	SMARCA4	6597	HP:0000729	Autistic behavior
OMIM:135900	SMARCA4	6597	HP:0001636	Tetralogy of Fallot
OMIM:135900	SMARCA4	6597	HP:0001643	Patent ductus arteriosus
OMIM:135900	SMARCA4	6597	HP:0001629	Ventricular septal defect
OMIM:135900	SMARCA4	6597	HP:0000455	Broad nasal tip
OMIM:135900	SMARCA4	6597	HP:0008398	Hypoplastic fifth fingernail
OMIM:135900	SMARCA4	6597	HP:0000218	High palate
OMIM:135900	SMARCA4	6597	HP:0000086	Ectopic kidney
OMIM:135900	SMARCA4	6597	HP:0001250	Seizures
OMIM:135900	SMARCA4	6597	HP:0000508	Ptosis
OMIM:135900	SMARCA4	6597	HP:0000639	Nystagmus
OMIM:135900	SMARCA4	6597	HP:0002808	Kyphosis
OMIM:135900	SMARCA4	6597	HP:0003298	Spina bifida occulta
OMIM:135900	SMARCA4	6597	HP:0006863	Severe expressive language delay
OMIM:135900	SMARCA4	6597	HP:0000280	Coarse facial features
OMIM:135900	SMARCA4	6597	HP:0004322	Short stature
OMIM:135900	SMARCA4	6597	HP:0000527	Long eyelashes
OMIM:135900	SMARCA4	6597	HP:0000684	Delayed eruption of teeth
OMIM:135900	SMARCA4	6597	HP:0000089	Renal hypoplasia
OMIM:135900	SMARCA4	6597	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:135900	SMARCA4	6597	HP:0000545	Myopia
OMIM:135900	SMARCA4	6597	HP:0001388	Joint laxity
OMIM:135900	SMARCA4	6597	HP:0003083	Dislocated radial head
OMIM:135900	SMARCA4	6597	HP:0000954	Single transverse palmar crease
OMIM:135900	SMARCA4	6597	HP:0001028	Hemangioma
OMIM:135900	SMARCA4	6597	HP:0001631	Atria septal defect
OMIM:135900	SMARCA4	6597	HP:0000965	Cutis marmorata
OMIM:135900	SMARCA4	6597	HP:0002079	Hypoplasia of the corpus callosum
OMIM:135900	SMARCA4	6597	HP:0002566	Intestinal malrotation
OMIM:135900	SMARCA4	6597	HP:0002673	Coxa valga
OMIM:135900	SMARCA4	6597	HP:0001511	Intrauterine growth retardation
OMIM:135900	SMARCA4	6597	HP:0000154	Wide mouth
OMIM:135900	SMARCA4	6597	HP:0002209	Sparse scalp hair
OMIM:135900	SMARCA4	6597	HP:0008897	Postnatal growth retardation
OMIM:135900	SMARCA4	6597	HP:0000047	Hypospadias
OMIM:135900	SMARCA4	6597	HP:0002592	Gastric ulcer
OMIM:135900	SMARCA4	6597	HP:0000483	Astigmatism
OMIM:135900	SMARCA4	6597	HP:0008872	Feeding difficulties in infancy
OMIM:135900	SMARCA4	6597	HP:0000126	Hydronephrosis
OMIM:135900	SMARCA4	6597	HP:0000574	Thick eyebrow
OMIM:135900	SMARCA4	6597	HP:0002576	Intussusception
OMIM:135900	SMARCA4	6597	HP:0004227	Short distal phalanx of the 5th finger
OMIM:135900	SMARCA4	6597	HP:0000023	Inguinal hernia
OMIM:135900	SMARCA4	6597	HP:0000601	Hypotelorism
OMIM:135900	SMARCA4	6597	HP:0000879	Short sternum
OMIM:135900	SMARCA4	6597	HP:0002588	Duodenal ulcer
OMIM:135900	SMARCA4	6597	HP:0002219	Facial hypertrichosis
OMIM:135900	SMARCA4	6597	HP:0001252	Muscular hypotonia
OMIM:135900	SMARCA4	6597	HP:0000960	Sacral dimple
OMIM:135900	SMARCA4	6597	HP:0001338	Partial agenesis of the corpus callosum
OMIM:135900	SMARCA4	6597	HP:0000365	Hearing impairment
OMIM:135900	SMARCA4	6597	HP:0002750	Delayed skeletal maturation
OMIM:135900	SMARCA4	6597	HP:0000007	Autosomal recessive inheritance
OMIM:135900	SMARCA4	6597	HP:0000453	Choanal atresia
OMIM:135900	SMARCA4	6597	HP:0002650	Scoliosis
OMIM:135900	SMARCA4	6597	HP:0000486	Strabismus
OMIM:135900	SMARCA4	6597	HP:0000776	Congenital diaphragmatic hernia
OMIM:135900	SMARCA4	6597	HP:0000384	Preauricular skin tag
OMIM:135900	SMARCA4	6597	HP:0000718	Aggressive behavior
OMIM:135900	SMARCA4	6597	HP:0001537	Umbilical hernia
OMIM:135900	SMARCA4	6597	HP:0005280	Depressed nasal bridge
OMIM:135900	SMARCB1	6598	HP:0000179	Thick lower lip vermilion
OMIM:135900	SMARCB1	6598	HP:0000151	Aplasia of the uterus
OMIM:135900	SMARCB1	6598	HP:0000252	Microcephaly
OMIM:135900	SMARCB1	6598	HP:0002205	Recurrent respiratory infections
OMIM:135900	SMARCB1	6598	HP:0000028	Cryptorchidism
OMIM:135900	SMARCB1	6598	HP:0009747	Lumbosacral hirsutism
OMIM:135900	SMARCB1	6598	HP:0001249	Intellectual disability
OMIM:135900	SMARCB1	6598	HP:0100391	Short distal phalanx of the 5th toe
OMIM:135900	SMARCB1	6598	HP:0001305	Dandy-Walker malformation
OMIM:135900	SMARCB1	6598	HP:0000175	Cleft palate
OMIM:135900	SMARCB1	6598	HP:0000729	Autistic behavior
OMIM:135900	SMARCB1	6598	HP:0001636	Tetralogy of Fallot
OMIM:135900	SMARCB1	6598	HP:0001643	Patent ductus arteriosus
OMIM:135900	SMARCB1	6598	HP:0001629	Ventricular septal defect
OMIM:135900	SMARCB1	6598	HP:0000455	Broad nasal tip
OMIM:135900	SMARCB1	6598	HP:0008398	Hypoplastic fifth fingernail
OMIM:135900	SMARCB1	6598	HP:0000218	High palate
OMIM:135900	SMARCB1	6598	HP:0000086	Ectopic kidney
OMIM:135900	SMARCB1	6598	HP:0001250	Seizures
OMIM:135900	SMARCB1	6598	HP:0000508	Ptosis
OMIM:135900	SMARCB1	6598	HP:0000639	Nystagmus
OMIM:135900	SMARCB1	6598	HP:0002808	Kyphosis
OMIM:135900	SMARCB1	6598	HP:0003298	Spina bifida occulta
OMIM:135900	SMARCB1	6598	HP:0006863	Severe expressive language delay
OMIM:135900	SMARCB1	6598	HP:0000280	Coarse facial features
OMIM:135900	SMARCB1	6598	HP:0004322	Short stature
OMIM:135900	SMARCB1	6598	HP:0000527	Long eyelashes
OMIM:135900	SMARCB1	6598	HP:0000684	Delayed eruption of teeth
OMIM:135900	SMARCB1	6598	HP:0000089	Renal hypoplasia
OMIM:135900	SMARCB1	6598	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:135900	SMARCB1	6598	HP:0000545	Myopia
OMIM:135900	SMARCB1	6598	HP:0001388	Joint laxity
OMIM:135900	SMARCB1	6598	HP:0003083	Dislocated radial head
OMIM:135900	SMARCB1	6598	HP:0000954	Single transverse palmar crease
OMIM:135900	SMARCB1	6598	HP:0001028	Hemangioma
OMIM:135900	SMARCB1	6598	HP:0001631	Atria septal defect
OMIM:135900	SMARCB1	6598	HP:0000965	Cutis marmorata
OMIM:135900	SMARCB1	6598	HP:0002079	Hypoplasia of the corpus callosum
OMIM:135900	SMARCB1	6598	HP:0002566	Intestinal malrotation
OMIM:135900	SMARCB1	6598	HP:0002673	Coxa valga
OMIM:135900	SMARCB1	6598	HP:0001511	Intrauterine growth retardation
OMIM:135900	SMARCB1	6598	HP:0000154	Wide mouth
OMIM:135900	SMARCB1	6598	HP:0002209	Sparse scalp hair
OMIM:135900	SMARCB1	6598	HP:0008897	Postnatal growth retardation
OMIM:135900	SMARCB1	6598	HP:0000047	Hypospadias
OMIM:135900	SMARCB1	6598	HP:0002592	Gastric ulcer
OMIM:135900	SMARCB1	6598	HP:0000483	Astigmatism
OMIM:135900	SMARCB1	6598	HP:0008872	Feeding difficulties in infancy
OMIM:135900	SMARCB1	6598	HP:0000126	Hydronephrosis
OMIM:135900	SMARCB1	6598	HP:0000574	Thick eyebrow
OMIM:135900	SMARCB1	6598	HP:0002576	Intussusception
OMIM:135900	SMARCB1	6598	HP:0004227	Short distal phalanx of the 5th finger
OMIM:135900	SMARCB1	6598	HP:0000023	Inguinal hernia
OMIM:135900	SMARCB1	6598	HP:0000601	Hypotelorism
OMIM:135900	SMARCB1	6598	HP:0000879	Short sternum
OMIM:135900	SMARCB1	6598	HP:0002588	Duodenal ulcer
OMIM:135900	SMARCB1	6598	HP:0002219	Facial hypertrichosis
OMIM:135900	SMARCB1	6598	HP:0001252	Muscular hypotonia
OMIM:135900	SMARCB1	6598	HP:0000960	Sacral dimple
OMIM:135900	SMARCB1	6598	HP:0001338	Partial agenesis of the corpus callosum
OMIM:135900	SMARCB1	6598	HP:0000365	Hearing impairment
OMIM:135900	SMARCB1	6598	HP:0002750	Delayed skeletal maturation
OMIM:135900	SMARCB1	6598	HP:0000007	Autosomal recessive inheritance
OMIM:135900	SMARCB1	6598	HP:0000453	Choanal atresia
OMIM:135900	SMARCB1	6598	HP:0002650	Scoliosis
OMIM:135900	SMARCB1	6598	HP:0000486	Strabismus
OMIM:135900	SMARCB1	6598	HP:0000776	Congenital diaphragmatic hernia
OMIM:135900	SMARCB1	6598	HP:0000384	Preauricular skin tag
OMIM:135900	SMARCB1	6598	HP:0000718	Aggressive behavior
OMIM:135900	SMARCB1	6598	HP:0001537	Umbilical hernia
OMIM:135900	SMARCB1	6598	HP:0005280	Depressed nasal bridge
OMIM:135900	SOX11	6664	HP:0000179	Thick lower lip vermilion
OMIM:135900	SOX11	6664	HP:0000151	Aplasia of the uterus
OMIM:135900	SOX11	6664	HP:0000252	Microcephaly
OMIM:135900	SOX11	6664	HP:0002205	Recurrent respiratory infections
OMIM:135900	SOX11	6664	HP:0000028	Cryptorchidism
OMIM:135900	SOX11	6664	HP:0009747	Lumbosacral hirsutism
OMIM:135900	SOX11	6664	HP:0001249	Intellectual disability
OMIM:135900	SOX11	6664	HP:0100391	Short distal phalanx of the 5th toe
OMIM:135900	SOX11	6664	HP:0001305	Dandy-Walker malformation
OMIM:135900	SOX11	6664	HP:0000175	Cleft palate
OMIM:135900	SOX11	6664	HP:0000729	Autistic behavior
OMIM:135900	SOX11	6664	HP:0001636	Tetralogy of Fallot
OMIM:135900	SOX11	6664	HP:0001643	Patent ductus arteriosus
OMIM:135900	SOX11	6664	HP:0001629	Ventricular septal defect
OMIM:135900	SOX11	6664	HP:0000455	Broad nasal tip
OMIM:135900	SOX11	6664	HP:0008398	Hypoplastic fifth fingernail
OMIM:135900	SOX11	6664	HP:0000218	High palate
OMIM:135900	SOX11	6664	HP:0000086	Ectopic kidney
OMIM:135900	SOX11	6664	HP:0001250	Seizures
OMIM:135900	SOX11	6664	HP:0000508	Ptosis
OMIM:135900	SOX11	6664	HP:0000639	Nystagmus
OMIM:135900	SOX11	6664	HP:0002808	Kyphosis
OMIM:135900	SOX11	6664	HP:0003298	Spina bifida occulta
OMIM:135900	SOX11	6664	HP:0006863	Severe expressive language delay
OMIM:135900	SOX11	6664	HP:0000280	Coarse facial features
OMIM:135900	SOX11	6664	HP:0004322	Short stature
OMIM:135900	SOX11	6664	HP:0000527	Long eyelashes
OMIM:135900	SOX11	6664	HP:0000684	Delayed eruption of teeth
OMIM:135900	SOX11	6664	HP:0000089	Renal hypoplasia
OMIM:135900	SOX11	6664	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:135900	SOX11	6664	HP:0000545	Myopia
OMIM:135900	SOX11	6664	HP:0001388	Joint laxity
OMIM:135900	SOX11	6664	HP:0003083	Dislocated radial head
OMIM:135900	SOX11	6664	HP:0000954	Single transverse palmar crease
OMIM:135900	SOX11	6664	HP:0001028	Hemangioma
OMIM:135900	SOX11	6664	HP:0001631	Atria septal defect
OMIM:135900	SOX11	6664	HP:0000965	Cutis marmorata
OMIM:135900	SOX11	6664	HP:0002079	Hypoplasia of the corpus callosum
OMIM:135900	SOX11	6664	HP:0002566	Intestinal malrotation
OMIM:135900	SOX11	6664	HP:0002673	Coxa valga
OMIM:135900	SOX11	6664	HP:0001511	Intrauterine growth retardation
OMIM:135900	SOX11	6664	HP:0000154	Wide mouth
OMIM:135900	SOX11	6664	HP:0002209	Sparse scalp hair
OMIM:135900	SOX11	6664	HP:0008897	Postnatal growth retardation
OMIM:135900	SOX11	6664	HP:0000047	Hypospadias
OMIM:135900	SOX11	6664	HP:0002592	Gastric ulcer
OMIM:135900	SOX11	6664	HP:0000483	Astigmatism
OMIM:135900	SOX11	6664	HP:0008872	Feeding difficulties in infancy
OMIM:135900	SOX11	6664	HP:0000126	Hydronephrosis
OMIM:135900	SOX11	6664	HP:0000574	Thick eyebrow
OMIM:135900	SOX11	6664	HP:0002576	Intussusception
OMIM:135900	SOX11	6664	HP:0004227	Short distal phalanx of the 5th finger
OMIM:135900	SOX11	6664	HP:0000023	Inguinal hernia
OMIM:135900	SOX11	6664	HP:0000601	Hypotelorism
OMIM:135900	SOX11	6664	HP:0000879	Short sternum
OMIM:135900	SOX11	6664	HP:0002588	Duodenal ulcer
OMIM:135900	SOX11	6664	HP:0002219	Facial hypertrichosis
OMIM:135900	SOX11	6664	HP:0001252	Muscular hypotonia
OMIM:135900	SOX11	6664	HP:0000960	Sacral dimple
OMIM:135900	SOX11	6664	HP:0001338	Partial agenesis of the corpus callosum
OMIM:135900	SOX11	6664	HP:0000365	Hearing impairment
OMIM:135900	SOX11	6664	HP:0002750	Delayed skeletal maturation
OMIM:135900	SOX11	6664	HP:0000007	Autosomal recessive inheritance
OMIM:135900	SOX11	6664	HP:0000453	Choanal atresia
OMIM:135900	SOX11	6664	HP:0002650	Scoliosis
OMIM:135900	SOX11	6664	HP:0000486	Strabismus
OMIM:135900	SOX11	6664	HP:0000776	Congenital diaphragmatic hernia
OMIM:135900	SOX11	6664	HP:0000384	Preauricular skin tag
OMIM:135900	SOX11	6664	HP:0000718	Aggressive behavior
OMIM:135900	SOX11	6664	HP:0001537	Umbilical hernia
OMIM:135900	SOX11	6664	HP:0005280	Depressed nasal bridge
OMIM:135900	SMARCE1	6605	HP:0000179	Thick lower lip vermilion
OMIM:135900	SMARCE1	6605	HP:0000151	Aplasia of the uterus
OMIM:135900	SMARCE1	6605	HP:0000252	Microcephaly
OMIM:135900	SMARCE1	6605	HP:0002205	Recurrent respiratory infections
OMIM:135900	SMARCE1	6605	HP:0000028	Cryptorchidism
OMIM:135900	SMARCE1	6605	HP:0009747	Lumbosacral hirsutism
OMIM:135900	SMARCE1	6605	HP:0001249	Intellectual disability
OMIM:135900	SMARCE1	6605	HP:0100391	Short distal phalanx of the 5th toe
OMIM:135900	SMARCE1	6605	HP:0001305	Dandy-Walker malformation
OMIM:135900	SMARCE1	6605	HP:0000175	Cleft palate
OMIM:135900	SMARCE1	6605	HP:0000729	Autistic behavior
OMIM:135900	SMARCE1	6605	HP:0001636	Tetralogy of Fallot
OMIM:135900	SMARCE1	6605	HP:0001643	Patent ductus arteriosus
OMIM:135900	SMARCE1	6605	HP:0001629	Ventricular septal defect
OMIM:135900	SMARCE1	6605	HP:0000455	Broad nasal tip
OMIM:135900	SMARCE1	6605	HP:0008398	Hypoplastic fifth fingernail
OMIM:135900	SMARCE1	6605	HP:0000218	High palate
OMIM:135900	SMARCE1	6605	HP:0000086	Ectopic kidney
OMIM:135900	SMARCE1	6605	HP:0001250	Seizures
OMIM:135900	SMARCE1	6605	HP:0000508	Ptosis
OMIM:135900	SMARCE1	6605	HP:0000639	Nystagmus
OMIM:135900	SMARCE1	6605	HP:0002808	Kyphosis
OMIM:135900	SMARCE1	6605	HP:0003298	Spina bifida occulta
OMIM:135900	SMARCE1	6605	HP:0006863	Severe expressive language delay
OMIM:135900	SMARCE1	6605	HP:0000280	Coarse facial features
OMIM:135900	SMARCE1	6605	HP:0004322	Short stature
OMIM:135900	SMARCE1	6605	HP:0000527	Long eyelashes
OMIM:135900	SMARCE1	6605	HP:0000684	Delayed eruption of teeth
OMIM:135900	SMARCE1	6605	HP:0000089	Renal hypoplasia
OMIM:135900	SMARCE1	6605	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:135900	SMARCE1	6605	HP:0000545	Myopia
OMIM:135900	SMARCE1	6605	HP:0001388	Joint laxity
OMIM:135900	SMARCE1	6605	HP:0003083	Dislocated radial head
OMIM:135900	SMARCE1	6605	HP:0000954	Single transverse palmar crease
OMIM:135900	SMARCE1	6605	HP:0001028	Hemangioma
OMIM:135900	SMARCE1	6605	HP:0001631	Atria septal defect
OMIM:135900	SMARCE1	6605	HP:0000965	Cutis marmorata
OMIM:135900	SMARCE1	6605	HP:0002079	Hypoplasia of the corpus callosum
OMIM:135900	SMARCE1	6605	HP:0002566	Intestinal malrotation
OMIM:135900	SMARCE1	6605	HP:0002673	Coxa valga
OMIM:135900	SMARCE1	6605	HP:0001511	Intrauterine growth retardation
OMIM:135900	SMARCE1	6605	HP:0000154	Wide mouth
OMIM:135900	SMARCE1	6605	HP:0002209	Sparse scalp hair
OMIM:135900	SMARCE1	6605	HP:0008897	Postnatal growth retardation
OMIM:135900	SMARCE1	6605	HP:0000047	Hypospadias
OMIM:135900	SMARCE1	6605	HP:0002592	Gastric ulcer
OMIM:135900	SMARCE1	6605	HP:0000483	Astigmatism
OMIM:135900	SMARCE1	6605	HP:0008872	Feeding difficulties in infancy
OMIM:135900	SMARCE1	6605	HP:0000126	Hydronephrosis
OMIM:135900	SMARCE1	6605	HP:0000574	Thick eyebrow
OMIM:135900	SMARCE1	6605	HP:0002576	Intussusception
OMIM:135900	SMARCE1	6605	HP:0004227	Short distal phalanx of the 5th finger
OMIM:135900	SMARCE1	6605	HP:0000023	Inguinal hernia
OMIM:135900	SMARCE1	6605	HP:0000601	Hypotelorism
OMIM:135900	SMARCE1	6605	HP:0000879	Short sternum
OMIM:135900	SMARCE1	6605	HP:0002588	Duodenal ulcer
OMIM:135900	SMARCE1	6605	HP:0002219	Facial hypertrichosis
OMIM:135900	SMARCE1	6605	HP:0001252	Muscular hypotonia
OMIM:135900	SMARCE1	6605	HP:0000960	Sacral dimple
OMIM:135900	SMARCE1	6605	HP:0001338	Partial agenesis of the corpus callosum
OMIM:135900	SMARCE1	6605	HP:0000365	Hearing impairment
OMIM:135900	SMARCE1	6605	HP:0002750	Delayed skeletal maturation
OMIM:135900	SMARCE1	6605	HP:0000007	Autosomal recessive inheritance
OMIM:135900	SMARCE1	6605	HP:0000453	Choanal atresia
OMIM:135900	SMARCE1	6605	HP:0002650	Scoliosis
OMIM:135900	SMARCE1	6605	HP:0000486	Strabismus
OMIM:135900	SMARCE1	6605	HP:0000776	Congenital diaphragmatic hernia
OMIM:135900	SMARCE1	6605	HP:0000384	Preauricular skin tag
OMIM:135900	SMARCE1	6605	HP:0000718	Aggressive behavior
OMIM:135900	SMARCE1	6605	HP:0001537	Umbilical hernia
OMIM:135900	SMARCE1	6605	HP:0005280	Depressed nasal bridge
OMIM:308990	CLCN5	1184	HP:0004322	Short stature
OMIM:308990	CLCN5	1184	HP:0000083	Renal insufficiency
OMIM:308990	CLCN5	1184	HP:0000097	Focal segmental glomerulosclerosis
OMIM:308990	CLCN5	1184	HP:0003677	Slow progression
OMIM:308990	CLCN5	1184	HP:0003355	Aminoaciduria
OMIM:308990	CLCN5	1184	HP:0002150	Hypercalciuria
OMIM:308990	CLCN5	1184	HP:0000121	Nephrocalcinosis
OMIM:308990	CLCN5	1184	HP:0001419	X-linked recessive inheritance
OMIM:308990	CLCN5	1184	HP:0002148	Hypophosphatemia
OMIM:614891	IL12RB1	3594	HP:0002721	Immunodeficiency
OMIM:614891	IL12RB1	3594	HP:0011274	Recurrent mycobacterial infections
OMIM:614891	IL12RB1	3594	HP:0000007	Autosomal recessive inheritance
OMIM:267700	STX11	8676	HP:0012229	CSF pleocytosis
OMIM:267700	STX11	8676	HP:0000007	Autosomal recessive inheritance
OMIM:267700	STX11	8676	HP:0001259	Coma
OMIM:267700	STX11	8676	HP:0001252	Muscular hypotonia
OMIM:267700	STX11	8676	HP:0001250	Seizures
OMIM:267700	STX11	8676	HP:0003073	Hypoalbuminemia
OMIM:267700	STX11	8676	HP:0003075	Hypoproteinemia
OMIM:267700	STX11	8676	HP:0001873	Thrombocytopenia
OMIM:267700	STX11	8676	HP:0002240	Hepatomegaly
OMIM:267700	STX11	8676	HP:0000737	Irritability
OMIM:267700	STX11	8676	HP:0002922	Increased CSF protein
OMIM:267700	STX11	8676	HP:0001276	Hypertonia
OMIM:267700	STX11	8676	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:267700	STX11	8676	HP:0002716	Lymphadenopathy
OMIM:267700	STX11	8676	HP:0002383	Encephalitis
OMIM:267700	STX11	8676	HP:0001251	Ataxia
OMIM:267700	STX11	8676	HP:0003233	Hypoalphalipoproteinemia
OMIM:267700	STX11	8676	HP:0002155	Hypertriglyceridemia
OMIM:267700	STX11	8676	HP:0001882	Leukopenia
OMIM:267700	STX11	8676	HP:0001903	Anemia
OMIM:267700	STX11	8676	HP:0001508	Failure to thrive
OMIM:267700	STX11	8676	HP:0002445	Tetraplegia
OMIM:267700	STX11	8676	HP:0001287	Meningitis
OMIM:267700	STX11	8676	HP:0000952	Jaundice
OMIM:267700	STX11	8676	HP:0001744	Splenomegaly
OMIM:267700	STX11	8676	HP:0001263	Global developmental delay
OMIM:267700	UNC13D	201294	HP:0012229	CSF pleocytosis
OMIM:267700	UNC13D	201294	HP:0000007	Autosomal recessive inheritance
OMIM:267700	UNC13D	201294	HP:0001259	Coma
OMIM:267700	UNC13D	201294	HP:0001252	Muscular hypotonia
OMIM:267700	UNC13D	201294	HP:0001250	Seizures
OMIM:267700	UNC13D	201294	HP:0003073	Hypoalbuminemia
OMIM:267700	UNC13D	201294	HP:0003075	Hypoproteinemia
OMIM:267700	UNC13D	201294	HP:0001873	Thrombocytopenia
OMIM:267700	UNC13D	201294	HP:0002240	Hepatomegaly
OMIM:267700	UNC13D	201294	HP:0000737	Irritability
OMIM:267700	UNC13D	201294	HP:0002922	Increased CSF protein
OMIM:267700	UNC13D	201294	HP:0001276	Hypertonia
OMIM:267700	UNC13D	201294	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:267700	UNC13D	201294	HP:0002716	Lymphadenopathy
OMIM:267700	UNC13D	201294	HP:0002383	Encephalitis
OMIM:267700	UNC13D	201294	HP:0001251	Ataxia
OMIM:267700	UNC13D	201294	HP:0003233	Hypoalphalipoproteinemia
OMIM:267700	UNC13D	201294	HP:0002155	Hypertriglyceridemia
OMIM:267700	UNC13D	201294	HP:0001882	Leukopenia
OMIM:267700	UNC13D	201294	HP:0001903	Anemia
OMIM:267700	UNC13D	201294	HP:0001508	Failure to thrive
OMIM:267700	UNC13D	201294	HP:0002445	Tetraplegia
OMIM:267700	UNC13D	201294	HP:0001287	Meningitis
OMIM:267700	UNC13D	201294	HP:0000952	Jaundice
OMIM:267700	UNC13D	201294	HP:0001744	Splenomegaly
OMIM:267700	UNC13D	201294	HP:0001263	Global developmental delay
OMIM:267700	STXBP2	6813	HP:0012229	CSF pleocytosis
OMIM:267700	STXBP2	6813	HP:0000007	Autosomal recessive inheritance
OMIM:267700	STXBP2	6813	HP:0001259	Coma
OMIM:267700	STXBP2	6813	HP:0001252	Muscular hypotonia
OMIM:267700	STXBP2	6813	HP:0001250	Seizures
OMIM:267700	STXBP2	6813	HP:0003073	Hypoalbuminemia
OMIM:267700	STXBP2	6813	HP:0003075	Hypoproteinemia
OMIM:267700	STXBP2	6813	HP:0001873	Thrombocytopenia
OMIM:267700	STXBP2	6813	HP:0002240	Hepatomegaly
OMIM:267700	STXBP2	6813	HP:0000737	Irritability
OMIM:267700	STXBP2	6813	HP:0002922	Increased CSF protein
OMIM:267700	STXBP2	6813	HP:0001276	Hypertonia
OMIM:267700	STXBP2	6813	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:267700	STXBP2	6813	HP:0002716	Lymphadenopathy
OMIM:267700	STXBP2	6813	HP:0002383	Encephalitis
OMIM:267700	STXBP2	6813	HP:0001251	Ataxia
OMIM:267700	STXBP2	6813	HP:0003233	Hypoalphalipoproteinemia
OMIM:267700	STXBP2	6813	HP:0002155	Hypertriglyceridemia
OMIM:267700	STXBP2	6813	HP:0001882	Leukopenia
OMIM:267700	STXBP2	6813	HP:0001903	Anemia
OMIM:267700	STXBP2	6813	HP:0001508	Failure to thrive
OMIM:267700	STXBP2	6813	HP:0002445	Tetraplegia
OMIM:267700	STXBP2	6813	HP:0001287	Meningitis
OMIM:267700	STXBP2	6813	HP:0000952	Jaundice
OMIM:267700	STXBP2	6813	HP:0001744	Splenomegaly
OMIM:267700	STXBP2	6813	HP:0001263	Global developmental delay
OMIM:267700	PRF1	5551	HP:0012229	CSF pleocytosis
OMIM:267700	PRF1	5551	HP:0000007	Autosomal recessive inheritance
OMIM:267700	PRF1	5551	HP:0001259	Coma
OMIM:267700	PRF1	5551	HP:0001252	Muscular hypotonia
OMIM:267700	PRF1	5551	HP:0001250	Seizures
OMIM:267700	PRF1	5551	HP:0003073	Hypoalbuminemia
OMIM:267700	PRF1	5551	HP:0003075	Hypoproteinemia
OMIM:267700	PRF1	5551	HP:0001873	Thrombocytopenia
OMIM:267700	PRF1	5551	HP:0002240	Hepatomegaly
OMIM:267700	PRF1	5551	HP:0000737	Irritability
OMIM:267700	PRF1	5551	HP:0002922	Increased CSF protein
OMIM:267700	PRF1	5551	HP:0001276	Hypertonia
OMIM:267700	PRF1	5551	HP:0003362	Increased circulating very-low-density lipoprotein cholesterol
OMIM:267700	PRF1	5551	HP:0002716	Lymphadenopathy
OMIM:267700	PRF1	5551	HP:0002383	Encephalitis
OMIM:267700	PRF1	5551	HP:0001251	Ataxia
OMIM:267700	PRF1	5551	HP:0003233	Hypoalphalipoproteinemia
OMIM:267700	PRF1	5551	HP:0002155	Hypertriglyceridemia
OMIM:267700	PRF1	5551	HP:0001882	Leukopenia
OMIM:267700	PRF1	5551	HP:0001903	Anemia
OMIM:267700	PRF1	5551	HP:0001508	Failure to thrive
OMIM:267700	PRF1	5551	HP:0002445	Tetraplegia
OMIM:267700	PRF1	5551	HP:0001287	Meningitis
OMIM:267700	PRF1	5551	HP:0000952	Jaundice
OMIM:267700	PRF1	5551	HP:0001744	Splenomegaly
OMIM:267700	PRF1	5551	HP:0001263	Global developmental delay
OMIM:145001	CDC73	79577	HP:0000787	Nephrolithiasis
OMIM:145001	CDC73	79577	HP:0000843	Hyperparathyroidism
OMIM:145001	CDC73	79577	HP:0000113	Polycystic kidney dysplasia
OMIM:145001	CDC73	79577	HP:0010566	Hamartoma
OMIM:145001	CDC73	79577	HP:0000006	Autosomal dominant inheritance
OMIM:145001	CDC73	79577	HP:0000234	Abnormality of the head
OMIM:145001	CDC73	79577	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:145001	CDC73	79577	HP:0003072	Hypercalcemia
OMIM:612356	SERPIND1	3053	HP:0000006	Autosomal dominant inheritance
OMIM:182940	VANGL2	57216	HP:0000020	Urinary incontinence
OMIM:182940	VANGL2	57216	HP:0002323	Anencephaly
OMIM:182940	VANGL2	57216	HP:0003298	Spina bifida occulta
OMIM:182940	VANGL2	57216	HP:0000006	Autosomal dominant inheritance
OMIM:182940	VANGL2	57216	HP:0000238	Hydrocephalus
OMIM:182940	FUZ	80199	HP:0000020	Urinary incontinence
OMIM:182940	FUZ	80199	HP:0002323	Anencephaly
OMIM:182940	FUZ	80199	HP:0003298	Spina bifida occulta
OMIM:182940	FUZ	80199	HP:0000006	Autosomal dominant inheritance
OMIM:182940	FUZ	80199	HP:0000238	Hydrocephalus
OMIM:615751	CA5A	763	HP:0001254	Lethargy
OMIM:615751	CA5A	763	HP:0003128	Lactic acidosis
OMIM:615751	CA5A	763	HP:0002151	Increased serum lactate
OMIM:615751	CA5A	763	HP:0001942	Metabolic acidosis
OMIM:615751	CA5A	763	HP:0001987	Hyperammonemia
OMIM:615751	CA5A	763	HP:0002789	Tachypnea
OMIM:615751	CA5A	763	HP:0001993	Ketoacidosis
OMIM:615751	CA5A	763	HP:0001943	Hypoglycemia
OMIM:615751	CA5A	763	HP:0001950	Respiratory alkalosis
OMIM:262650	GH1	2688	HP:0000007	Autosomal recessive inheritance
OMIM:262650	GH1	2688	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:262650	GH1	2688	HP:0002750	Delayed skeletal maturation
OMIM:614462	LIAS	11019	HP:0001371	Flexion contracture
OMIM:614462	LIAS	11019	HP:0002360	Sleep disturbance
OMIM:614462	LIAS	11019	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614462	LIAS	11019	HP:0000252	Microcephaly
OMIM:614462	LIAS	11019	HP:0001298	Encephalopathy
OMIM:614462	LIAS	11019	HP:0000007	Autosomal recessive inheritance
OMIM:614462	LIAS	11019	HP:0002510	Spastic tetraplegia
OMIM:614462	LIAS	11019	HP:0003128	Lactic acidosis
OMIM:614462	LIAS	11019	HP:0001252	Muscular hypotonia
OMIM:614462	LIAS	11019	HP:0011968	Feeding difficulties
OMIM:614462	LIAS	11019	HP:0001250	Seizures
OMIM:614462	LIAS	11019	HP:0002104	Apnea
OMIM:614462	LIAS	11019	HP:0001270	Motor delay
OMIM:614462	LIAS	11019	HP:0002151	Increased serum lactate
OMIM:614462	LIAS	11019	HP:0002093	Respiratory insufficiency
OMIM:614462	LIAS	11019	HP:0001510	Growth delay
OMIM:614462	LIAS	11019	HP:0011344	Severe global developmental delay
OMIM:268210	SLC22A18	5002	HP:0000007	Autosomal recessive inheritance
OMIM:614429	GATA4	2626	HP:0001629	Ventricular septal defect
OMIM:614429	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:614429	GATA4	2626	HP:0001642	Pulmonic stenosis
OMIM:614429	GATA4	2626	HP:0001631	Atria septal defect
OMIM:191830	ITGA8	8516	HP:0000278	Retrognathia
OMIM:191830	ITGA8	8516	HP:0002089	Pulmonary hypoplasia
OMIM:191830	ITGA8	8516	HP:0000093	Proteinuria
OMIM:191830	ITGA8	8516	HP:0000104	Renal agenesis
OMIM:191830	ITGA8	8516	HP:0000148	Vaginal atresia
OMIM:191830	ITGA8	8516	HP:0000110	Renal dysplasia
OMIM:191830	ITGA8	8516	HP:0002009	Potter facies
OMIM:191830	ITGA8	8516	HP:0001562	Oligohydramnios
OMIM:191830	ITGA8	8516	HP:0000316	Hypertelorism
OMIM:191830	ITGA8	8516	HP:0001760	Abnormality of the foot
OMIM:191830	ITGA8	8516	HP:0000369	Low-set ears
OMIM:191830	ITGA8	8516	HP:0000813	Bicornuate uterus
OMIM:191830	ITGA8	8516	HP:0000822	Hypertension
OMIM:191830	ITGA8	8516	HP:0000006	Autosomal dominant inheritance
OMIM:191830	ITGA8	8516	HP:0001762	Talipes equinovarus
OMIM:191830	ITGA8	8516	HP:0000007	Autosomal recessive inheritance
OMIM:191830	ITGA8	8516	HP:0000786	Primary amenorrhea
OMIM:191830	ITGA8	8516	HP:0003577	Congenital onset
OMIM:191830	PAX2	5076	HP:0000278	Retrognathia
OMIM:191830	PAX2	5076	HP:0002089	Pulmonary hypoplasia
OMIM:191830	PAX2	5076	HP:0000093	Proteinuria
OMIM:191830	PAX2	5076	HP:0000104	Renal agenesis
OMIM:191830	PAX2	5076	HP:0000148	Vaginal atresia
OMIM:191830	PAX2	5076	HP:0000110	Renal dysplasia
OMIM:191830	PAX2	5076	HP:0002009	Potter facies
OMIM:191830	PAX2	5076	HP:0001562	Oligohydramnios
OMIM:191830	PAX2	5076	HP:0000316	Hypertelorism
OMIM:191830	PAX2	5076	HP:0001760	Abnormality of the foot
OMIM:191830	PAX2	5076	HP:0000369	Low-set ears
OMIM:191830	PAX2	5076	HP:0000813	Bicornuate uterus
OMIM:191830	PAX2	5076	HP:0000822	Hypertension
OMIM:191830	PAX2	5076	HP:0000006	Autosomal dominant inheritance
OMIM:191830	PAX2	5076	HP:0001762	Talipes equinovarus
OMIM:191830	PAX2	5076	HP:0000007	Autosomal recessive inheritance
OMIM:191830	PAX2	5076	HP:0000786	Primary amenorrhea
OMIM:191830	PAX2	5076	HP:0003577	Congenital onset
OMIM:191830	RET	5979	HP:0000278	Retrognathia
OMIM:191830	RET	5979	HP:0002089	Pulmonary hypoplasia
OMIM:191830	RET	5979	HP:0000093	Proteinuria
OMIM:191830	RET	5979	HP:0000104	Renal agenesis
OMIM:191830	RET	5979	HP:0000148	Vaginal atresia
OMIM:191830	RET	5979	HP:0000110	Renal dysplasia
OMIM:191830	RET	5979	HP:0002009	Potter facies
OMIM:191830	RET	5979	HP:0001562	Oligohydramnios
OMIM:191830	RET	5979	HP:0000316	Hypertelorism
OMIM:191830	RET	5979	HP:0001760	Abnormality of the foot
OMIM:191830	RET	5979	HP:0000369	Low-set ears
OMIM:191830	RET	5979	HP:0000813	Bicornuate uterus
OMIM:191830	RET	5979	HP:0000822	Hypertension
OMIM:191830	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:191830	RET	5979	HP:0001762	Talipes equinovarus
OMIM:191830	RET	5979	HP:0000007	Autosomal recessive inheritance
OMIM:191830	RET	5979	HP:0000786	Primary amenorrhea
OMIM:191830	RET	5979	HP:0003577	Congenital onset
ORPHANET:1766	ATP8A2	51761	HP:0003202	Skeletal muscle atrophy
ORPHANET:1766	ATP8A2	51761	HP:0001347	Hyperreflexia
ORPHANET:1766	ATP8A2	51761	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:1766	ATP8A2	51761	HP:0000518	Cataract
ORPHANET:1766	ATP8A2	51761	HP:0001250	Seizures
ORPHANET:1766	ATP8A2	51761	HP:0100543	Cognitive impairment
ORPHANET:1766	ATP8A2	51761	HP:0001252	Muscular hypotonia
ORPHANET:1766	ATP8A2	51761	HP:0002311	Incoordination
ORPHANET:1766	ATP8A2	51761	HP:0004322	Short stature
ORPHANET:1766	ATP8A2	51761	HP:0000486	Strabismus
ORPHANET:1766	ATP8A2	51761	HP:0001288	Gait disturbance
ORPHANET:1766	WDR81	124997	HP:0003202	Skeletal muscle atrophy
ORPHANET:1766	WDR81	124997	HP:0001347	Hyperreflexia
ORPHANET:1766	WDR81	124997	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:1766	WDR81	124997	HP:0000518	Cataract
ORPHANET:1766	WDR81	124997	HP:0001250	Seizures
ORPHANET:1766	WDR81	124997	HP:0100543	Cognitive impairment
ORPHANET:1766	WDR81	124997	HP:0001252	Muscular hypotonia
ORPHANET:1766	WDR81	124997	HP:0002311	Incoordination
ORPHANET:1766	WDR81	124997	HP:0004322	Short stature
ORPHANET:1766	WDR81	124997	HP:0000486	Strabismus
ORPHANET:1766	WDR81	124997	HP:0001288	Gait disturbance
ORPHANET:1766	VLDLR	7436	HP:0003202	Skeletal muscle atrophy
ORPHANET:1766	VLDLR	7436	HP:0001347	Hyperreflexia
ORPHANET:1766	VLDLR	7436	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:1766	VLDLR	7436	HP:0000518	Cataract
ORPHANET:1766	VLDLR	7436	HP:0001250	Seizures
ORPHANET:1766	VLDLR	7436	HP:0100543	Cognitive impairment
ORPHANET:1766	VLDLR	7436	HP:0001252	Muscular hypotonia
ORPHANET:1766	VLDLR	7436	HP:0002311	Incoordination
ORPHANET:1766	VLDLR	7436	HP:0004322	Short stature
ORPHANET:1766	VLDLR	7436	HP:0000486	Strabismus
ORPHANET:1766	VLDLR	7436	HP:0001288	Gait disturbance
ORPHANET:1766	CA8	767	HP:0003202	Skeletal muscle atrophy
ORPHANET:1766	CA8	767	HP:0001347	Hyperreflexia
ORPHANET:1766	CA8	767	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:1766	CA8	767	HP:0000518	Cataract
ORPHANET:1766	CA8	767	HP:0001250	Seizures
ORPHANET:1766	CA8	767	HP:0100543	Cognitive impairment
ORPHANET:1766	CA8	767	HP:0001252	Muscular hypotonia
ORPHANET:1766	CA8	767	HP:0002311	Incoordination
ORPHANET:1766	CA8	767	HP:0004322	Short stature
ORPHANET:1766	CA8	767	HP:0000486	Strabismus
ORPHANET:1766	CA8	767	HP:0001288	Gait disturbance
OMIM:613708	ATL3	25923	HP:0000006	Autosomal dominant inheritance
OMIM:613708	ATL3	25923	HP:0001347	Hyperreflexia
OMIM:613708	ATL3	25923	HP:0002164	Nail dysplasia
OMIM:613708	ATL3	25923	HP:0003676	Progressive
OMIM:613708	ATL3	25923	HP:0001218	Autoamputation
OMIM:613708	ATL3	25923	HP:0003693	Distal amyotrophy
OMIM:613708	ATL3	25923	HP:0008404	Nail dystrophy
OMIM:613708	ATL3	25923	HP:0003581	Adult onset
OMIM:613708	ATL3	25923	HP:0002936	Distal sensory impairment
OMIM:613708	ATL3	25923	HP:0003401	Paresthesia
OMIM:613708	ATL3	25923	HP:0001761	Pes cavus
OMIM:613708	ATL3	25923	HP:0003477	Peripheral axonal neuropathy
OMIM:613708	ATL1	51062	HP:0000006	Autosomal dominant inheritance
OMIM:613708	ATL1	51062	HP:0001347	Hyperreflexia
OMIM:613708	ATL1	51062	HP:0002164	Nail dysplasia
OMIM:613708	ATL1	51062	HP:0003676	Progressive
OMIM:613708	ATL1	51062	HP:0001218	Autoamputation
OMIM:613708	ATL1	51062	HP:0003693	Distal amyotrophy
OMIM:613708	ATL1	51062	HP:0008404	Nail dystrophy
OMIM:613708	ATL1	51062	HP:0003581	Adult onset
OMIM:613708	ATL1	51062	HP:0002936	Distal sensory impairment
OMIM:613708	ATL1	51062	HP:0003401	Paresthesia
OMIM:613708	ATL1	51062	HP:0001761	Pes cavus
OMIM:613708	ATL1	51062	HP:0003477	Peripheral axonal neuropathy
OMIM:613708	SPTLC2	9517	HP:0000006	Autosomal dominant inheritance
OMIM:613708	SPTLC2	9517	HP:0001347	Hyperreflexia
OMIM:613708	SPTLC2	9517	HP:0002164	Nail dysplasia
OMIM:613708	SPTLC2	9517	HP:0003676	Progressive
OMIM:613708	SPTLC2	9517	HP:0001218	Autoamputation
OMIM:613708	SPTLC2	9517	HP:0003693	Distal amyotrophy
OMIM:613708	SPTLC2	9517	HP:0008404	Nail dystrophy
OMIM:613708	SPTLC2	9517	HP:0003581	Adult onset
OMIM:613708	SPTLC2	9517	HP:0002936	Distal sensory impairment
OMIM:613708	SPTLC2	9517	HP:0003401	Paresthesia
OMIM:613708	SPTLC2	9517	HP:0001761	Pes cavus
OMIM:613708	SPTLC2	9517	HP:0003477	Peripheral axonal neuropathy
OMIM:613708	SPTLC1	10558	HP:0000006	Autosomal dominant inheritance
OMIM:613708	SPTLC1	10558	HP:0001347	Hyperreflexia
OMIM:613708	SPTLC1	10558	HP:0002164	Nail dysplasia
OMIM:613708	SPTLC1	10558	HP:0003676	Progressive
OMIM:613708	SPTLC1	10558	HP:0001218	Autoamputation
OMIM:613708	SPTLC1	10558	HP:0003693	Distal amyotrophy
OMIM:613708	SPTLC1	10558	HP:0008404	Nail dystrophy
OMIM:613708	SPTLC1	10558	HP:0003581	Adult onset
OMIM:613708	SPTLC1	10558	HP:0002936	Distal sensory impairment
OMIM:613708	SPTLC1	10558	HP:0003401	Paresthesia
OMIM:613708	SPTLC1	10558	HP:0001761	Pes cavus
OMIM:613708	SPTLC1	10558	HP:0003477	Peripheral axonal neuropathy
OMIM:600361	MFN2	9927	HP:0001618	Dysphonia
OMIM:600361	MFN2	9927	HP:0002460	Distal muscle weakness
OMIM:600361	MFN2	9927	HP:0002359	Frequent falls
OMIM:600361	MFN2	9927	HP:0009027	Foot dorsiflexor weakness
OMIM:600361	MFN2	9927	HP:0001425	Heterogeneous
OMIM:600361	MFN2	9927	HP:0003677	Slow progression
OMIM:600361	MFN2	9927	HP:0002936	Distal sensory impairment
OMIM:600361	MFN2	9927	HP:0011463	Childhood onset
OMIM:600361	MFN2	9927	HP:0000763	Sensory neuropathy
OMIM:600361	MFN2	9927	HP:0001765	Hammertoe
OMIM:600361	MFN2	9927	HP:0003431	Decreased motor nerve conduction velocity
OMIM:600361	MFN2	9927	HP:0002355	Difficulty walking
OMIM:600361	MFN2	9927	HP:0001761	Pes cavus
OMIM:600361	MFN2	9927	HP:0003487	Babinski sign
OMIM:600361	MFN2	9927	HP:0003477	Peripheral axonal neuropathy
OMIM:600361	MFN2	9927	HP:0003581	Adult onset
OMIM:600361	MFN2	9927	HP:0001257	Spasticity
OMIM:600361	MFN2	9927	HP:0003693	Distal amyotrophy
OMIM:600361	MFN2	9927	HP:0000006	Autosomal dominant inheritance
OMIM:613926	MLC1	23209	HP:0000006	Autosomal dominant inheritance
OMIM:613926	MLC1	23209	HP:0001252	Muscular hypotonia
OMIM:613926	MLC1	23209	HP:0000256	Macrocephaly
OMIM:613926	MLC1	23209	HP:0001249	Intellectual disability
OMIM:613926	MLC1	23209	HP:0001270	Motor delay
OMIM:613926	HEPACAM	220296	HP:0000006	Autosomal dominant inheritance
OMIM:613926	HEPACAM	220296	HP:0001252	Muscular hypotonia
OMIM:613926	HEPACAM	220296	HP:0000256	Macrocephaly
OMIM:613926	HEPACAM	220296	HP:0001249	Intellectual disability
OMIM:613926	HEPACAM	220296	HP:0001270	Motor delay
OMIM:613154	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	B4GAT1	11041	HP:0006829	Severe muscular hypotonia
OMIM:613154	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:613154	B4GAT1	11041	HP:0000648	Optic atrophy
OMIM:613154	B4GAT1	11041	HP:0012110	Hypoplasia of the pons
OMIM:613154	B4GAT1	11041	HP:0001371	Flexion contracture
OMIM:613154	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:613154	B4GAT1	11041	HP:0001284	Areflexia
OMIM:613154	B4GAT1	11041	HP:0000518	Cataract
OMIM:613154	B4GAT1	11041	HP:0001249	Intellectual disability
OMIM:613154	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:613154	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:613154	B4GAT1	11041	HP:0007973	Retinal dysplasia
OMIM:613154	B4GAT1	11041	HP:0001305	Dandy-Walker malformation
OMIM:613154	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	POMT2	29954	HP:0006829	Severe muscular hypotonia
OMIM:613154	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:613154	POMT2	29954	HP:0000648	Optic atrophy
OMIM:613154	POMT2	29954	HP:0012110	Hypoplasia of the pons
OMIM:613154	POMT2	29954	HP:0001371	Flexion contracture
OMIM:613154	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:613154	POMT2	29954	HP:0001284	Areflexia
OMIM:613154	POMT2	29954	HP:0000518	Cataract
OMIM:613154	POMT2	29954	HP:0001249	Intellectual disability
OMIM:613154	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:613154	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:613154	POMT2	29954	HP:0007973	Retinal dysplasia
OMIM:613154	POMT2	29954	HP:0001305	Dandy-Walker malformation
OMIM:613154	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	COL4A1	1282	HP:0006829	Severe muscular hypotonia
OMIM:613154	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:613154	COL4A1	1282	HP:0000648	Optic atrophy
OMIM:613154	COL4A1	1282	HP:0012110	Hypoplasia of the pons
OMIM:613154	COL4A1	1282	HP:0001371	Flexion contracture
OMIM:613154	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:613154	COL4A1	1282	HP:0001284	Areflexia
OMIM:613154	COL4A1	1282	HP:0000518	Cataract
OMIM:613154	COL4A1	1282	HP:0001249	Intellectual disability
OMIM:613154	COL4A1	1282	HP:0003560	Muscular dystrophy
OMIM:613154	COL4A1	1282	HP:0000007	Autosomal recessive inheritance
OMIM:613154	COL4A1	1282	HP:0007973	Retinal dysplasia
OMIM:613154	COL4A1	1282	HP:0001305	Dandy-Walker malformation
OMIM:613154	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	POMK	84197	HP:0006829	Severe muscular hypotonia
OMIM:613154	POMK	84197	HP:0000238	Hydrocephalus
OMIM:613154	POMK	84197	HP:0000648	Optic atrophy
OMIM:613154	POMK	84197	HP:0012110	Hypoplasia of the pons
OMIM:613154	POMK	84197	HP:0001371	Flexion contracture
OMIM:613154	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:613154	POMK	84197	HP:0001284	Areflexia
OMIM:613154	POMK	84197	HP:0000518	Cataract
OMIM:613154	POMK	84197	HP:0001249	Intellectual disability
OMIM:613154	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:613154	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:613154	POMK	84197	HP:0007973	Retinal dysplasia
OMIM:613154	POMK	84197	HP:0001305	Dandy-Walker malformation
OMIM:613154	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	GMPPB	29925	HP:0006829	Severe muscular hypotonia
OMIM:613154	GMPPB	29925	HP:0000238	Hydrocephalus
OMIM:613154	GMPPB	29925	HP:0000648	Optic atrophy
OMIM:613154	GMPPB	29925	HP:0012110	Hypoplasia of the pons
OMIM:613154	GMPPB	29925	HP:0001371	Flexion contracture
OMIM:613154	GMPPB	29925	HP:0007260	Type II lissencephaly
OMIM:613154	GMPPB	29925	HP:0001284	Areflexia
OMIM:613154	GMPPB	29925	HP:0000518	Cataract
OMIM:613154	GMPPB	29925	HP:0001249	Intellectual disability
OMIM:613154	GMPPB	29925	HP:0003560	Muscular dystrophy
OMIM:613154	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:613154	GMPPB	29925	HP:0007973	Retinal dysplasia
OMIM:613154	GMPPB	29925	HP:0001305	Dandy-Walker malformation
OMIM:613154	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	DAG1	1605	HP:0006829	Severe muscular hypotonia
OMIM:613154	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:613154	DAG1	1605	HP:0000648	Optic atrophy
OMIM:613154	DAG1	1605	HP:0012110	Hypoplasia of the pons
OMIM:613154	DAG1	1605	HP:0001371	Flexion contracture
OMIM:613154	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:613154	DAG1	1605	HP:0001284	Areflexia
OMIM:613154	DAG1	1605	HP:0000518	Cataract
OMIM:613154	DAG1	1605	HP:0001249	Intellectual disability
OMIM:613154	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:613154	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:613154	DAG1	1605	HP:0007973	Retinal dysplasia
OMIM:613154	DAG1	1605	HP:0001305	Dandy-Walker malformation
OMIM:613154	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	POMGNT1	55624	HP:0006829	Severe muscular hypotonia
OMIM:613154	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:613154	POMGNT1	55624	HP:0000648	Optic atrophy
OMIM:613154	POMGNT1	55624	HP:0012110	Hypoplasia of the pons
OMIM:613154	POMGNT1	55624	HP:0001371	Flexion contracture
OMIM:613154	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:613154	POMGNT1	55624	HP:0001284	Areflexia
OMIM:613154	POMGNT1	55624	HP:0000518	Cataract
OMIM:613154	POMGNT1	55624	HP:0001249	Intellectual disability
OMIM:613154	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:613154	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:613154	POMGNT1	55624	HP:0007973	Retinal dysplasia
OMIM:613154	POMGNT1	55624	HP:0001305	Dandy-Walker malformation
OMIM:613154	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	FKTN	2218	HP:0006829	Severe muscular hypotonia
OMIM:613154	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:613154	FKTN	2218	HP:0000648	Optic atrophy
OMIM:613154	FKTN	2218	HP:0012110	Hypoplasia of the pons
OMIM:613154	FKTN	2218	HP:0001371	Flexion contracture
OMIM:613154	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:613154	FKTN	2218	HP:0001284	Areflexia
OMIM:613154	FKTN	2218	HP:0000518	Cataract
OMIM:613154	FKTN	2218	HP:0001249	Intellectual disability
OMIM:613154	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:613154	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:613154	FKTN	2218	HP:0007973	Retinal dysplasia
OMIM:613154	FKTN	2218	HP:0001305	Dandy-Walker malformation
OMIM:613154	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	FKRP	79147	HP:0006829	Severe muscular hypotonia
OMIM:613154	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:613154	FKRP	79147	HP:0000648	Optic atrophy
OMIM:613154	FKRP	79147	HP:0012110	Hypoplasia of the pons
OMIM:613154	FKRP	79147	HP:0001371	Flexion contracture
OMIM:613154	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:613154	FKRP	79147	HP:0001284	Areflexia
OMIM:613154	FKRP	79147	HP:0000518	Cataract
OMIM:613154	FKRP	79147	HP:0001249	Intellectual disability
OMIM:613154	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:613154	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:613154	FKRP	79147	HP:0007973	Retinal dysplasia
OMIM:613154	FKRP	79147	HP:0001305	Dandy-Walker malformation
OMIM:613154	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	ISPD	729920	HP:0006829	Severe muscular hypotonia
OMIM:613154	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:613154	ISPD	729920	HP:0000648	Optic atrophy
OMIM:613154	ISPD	729920	HP:0012110	Hypoplasia of the pons
OMIM:613154	ISPD	729920	HP:0001371	Flexion contracture
OMIM:613154	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:613154	ISPD	729920	HP:0001284	Areflexia
OMIM:613154	ISPD	729920	HP:0000518	Cataract
OMIM:613154	ISPD	729920	HP:0001249	Intellectual disability
OMIM:613154	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:613154	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:613154	ISPD	729920	HP:0007973	Retinal dysplasia
OMIM:613154	ISPD	729920	HP:0001305	Dandy-Walker malformation
OMIM:613154	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	B3GALNT2	148789	HP:0006829	Severe muscular hypotonia
OMIM:613154	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:613154	B3GALNT2	148789	HP:0000648	Optic atrophy
OMIM:613154	B3GALNT2	148789	HP:0012110	Hypoplasia of the pons
OMIM:613154	B3GALNT2	148789	HP:0001371	Flexion contracture
OMIM:613154	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:613154	B3GALNT2	148789	HP:0001284	Areflexia
OMIM:613154	B3GALNT2	148789	HP:0000518	Cataract
OMIM:613154	B3GALNT2	148789	HP:0001249	Intellectual disability
OMIM:613154	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:613154	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:613154	B3GALNT2	148789	HP:0007973	Retinal dysplasia
OMIM:613154	B3GALNT2	148789	HP:0001305	Dandy-Walker malformation
OMIM:613154	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	POMT1	10585	HP:0006829	Severe muscular hypotonia
OMIM:613154	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:613154	POMT1	10585	HP:0000648	Optic atrophy
OMIM:613154	POMT1	10585	HP:0012110	Hypoplasia of the pons
OMIM:613154	POMT1	10585	HP:0001371	Flexion contracture
OMIM:613154	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:613154	POMT1	10585	HP:0001284	Areflexia
OMIM:613154	POMT1	10585	HP:0000518	Cataract
OMIM:613154	POMT1	10585	HP:0001249	Intellectual disability
OMIM:613154	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:613154	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:613154	POMT1	10585	HP:0007973	Retinal dysplasia
OMIM:613154	POMT1	10585	HP:0001305	Dandy-Walker malformation
OMIM:613154	TMEM5	10329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	TMEM5	10329	HP:0006829	Severe muscular hypotonia
OMIM:613154	TMEM5	10329	HP:0000238	Hydrocephalus
OMIM:613154	TMEM5	10329	HP:0000648	Optic atrophy
OMIM:613154	TMEM5	10329	HP:0012110	Hypoplasia of the pons
OMIM:613154	TMEM5	10329	HP:0001371	Flexion contracture
OMIM:613154	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:613154	TMEM5	10329	HP:0001284	Areflexia
OMIM:613154	TMEM5	10329	HP:0000518	Cataract
OMIM:613154	TMEM5	10329	HP:0001249	Intellectual disability
OMIM:613154	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:613154	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:613154	TMEM5	10329	HP:0007973	Retinal dysplasia
OMIM:613154	TMEM5	10329	HP:0001305	Dandy-Walker malformation
OMIM:613154	POMGNT2	84892	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	POMGNT2	84892	HP:0006829	Severe muscular hypotonia
OMIM:613154	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:613154	POMGNT2	84892	HP:0000648	Optic atrophy
OMIM:613154	POMGNT2	84892	HP:0012110	Hypoplasia of the pons
OMIM:613154	POMGNT2	84892	HP:0001371	Flexion contracture
OMIM:613154	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:613154	POMGNT2	84892	HP:0001284	Areflexia
OMIM:613154	POMGNT2	84892	HP:0000518	Cataract
OMIM:613154	POMGNT2	84892	HP:0001249	Intellectual disability
OMIM:613154	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:613154	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:613154	POMGNT2	84892	HP:0007973	Retinal dysplasia
OMIM:613154	POMGNT2	84892	HP:0001305	Dandy-Walker malformation
OMIM:613154	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613154	LARGE	9215	HP:0006829	Severe muscular hypotonia
OMIM:613154	LARGE	9215	HP:0000238	Hydrocephalus
OMIM:613154	LARGE	9215	HP:0000648	Optic atrophy
OMIM:613154	LARGE	9215	HP:0012110	Hypoplasia of the pons
OMIM:613154	LARGE	9215	HP:0001371	Flexion contracture
OMIM:613154	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:613154	LARGE	9215	HP:0001284	Areflexia
OMIM:613154	LARGE	9215	HP:0000518	Cataract
OMIM:613154	LARGE	9215	HP:0001249	Intellectual disability
OMIM:613154	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:613154	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:613154	LARGE	9215	HP:0007973	Retinal dysplasia
OMIM:613154	LARGE	9215	HP:0001305	Dandy-Walker malformation
OMIM:300048	CLMP	79827	HP:0000319	Smooth philtrum
OMIM:300048	CLMP	79827	HP:0001999	Abnormal facial shape
OMIM:300048	CLMP	79827	HP:0002021	Pyloric stenosis
OMIM:300048	CLMP	79827	HP:0003593	Infantile onset
OMIM:300048	CLMP	79827	HP:0000316	Hypertelorism
OMIM:300048	CLMP	79827	HP:0001419	X-linked recessive inheritance
OMIM:300048	CLMP	79827	HP:0003270	Abdominal distention
OMIM:300048	CLMP	79827	HP:0002013	Vomiting
OMIM:300048	CLMP	79827	HP:0002566	Intestinal malrotation
OMIM:300048	CLMP	79827	HP:0001643	Patent ductus arteriosus
OMIM:300048	CLMP	79827	HP:0011877	Increased mean platelet volume
OMIM:300048	CLMP	79827	HP:0001873	Thrombocytopenia
OMIM:300048	CLMP	79827	HP:0008872	Feeding difficulties in infancy
OMIM:300048	CLMP	79827	HP:0000126	Hydronephrosis
OMIM:300048	CLMP	79827	HP:0000494	Downslanted palpebral fissures
OMIM:300048	CLMP	79827	HP:0001250	Seizures
OMIM:300048	CLMP	79827	HP:0000369	Low-set ears
OMIM:300048	FLNA	2316	HP:0000319	Smooth philtrum
OMIM:300048	FLNA	2316	HP:0001999	Abnormal facial shape
OMIM:300048	FLNA	2316	HP:0002021	Pyloric stenosis
OMIM:300048	FLNA	2316	HP:0003593	Infantile onset
OMIM:300048	FLNA	2316	HP:0000316	Hypertelorism
OMIM:300048	FLNA	2316	HP:0001419	X-linked recessive inheritance
OMIM:300048	FLNA	2316	HP:0003270	Abdominal distention
OMIM:300048	FLNA	2316	HP:0002013	Vomiting
OMIM:300048	FLNA	2316	HP:0002566	Intestinal malrotation
OMIM:300048	FLNA	2316	HP:0001643	Patent ductus arteriosus
OMIM:300048	FLNA	2316	HP:0011877	Increased mean platelet volume
OMIM:300048	FLNA	2316	HP:0001873	Thrombocytopenia
OMIM:300048	FLNA	2316	HP:0008872	Feeding difficulties in infancy
OMIM:300048	FLNA	2316	HP:0000126	Hydronephrosis
OMIM:300048	FLNA	2316	HP:0000494	Downslanted palpebral fissures
OMIM:300048	FLNA	2316	HP:0001250	Seizures
OMIM:300048	FLNA	2316	HP:0000369	Low-set ears
OMIM:259900	AGXT	189	HP:0000648	Optic atrophy
OMIM:259900	AGXT	189	HP:0000965	Cutis marmorata
OMIM:259900	AGXT	189	HP:0001138	Optic neuropathy
OMIM:259900	AGXT	189	HP:0001678	Atrioventricular block
OMIM:259900	AGXT	189	HP:0002653	Bone pain
OMIM:259900	AGXT	189	HP:0001942	Metabolic acidosis
OMIM:259900	AGXT	189	HP:0000121	Nephrocalcinosis
OMIM:259900	AGXT	189	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:259900	AGXT	189	HP:0000488	Retinopathy
OMIM:259900	AGXT	189	HP:0001063	Acrocyanosis
OMIM:259900	AGXT	189	HP:0002756	Pathologic fracture
OMIM:259900	AGXT	189	HP:0011001	Increased bone mineral density
OMIM:259900	AGXT	189	HP:0000790	Hematuria
OMIM:259900	AGXT	189	HP:0000083	Renal insufficiency
OMIM:259900	AGXT	189	HP:0009830	Peripheral neuropathy
OMIM:259900	AGXT	189	HP:0000007	Autosomal recessive inheritance
ORPHANET:93947	PQBP1	10084	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:93947	PQBP1	10084	HP:0000275	Narrow face
ORPHANET:93947	PQBP1	10084	HP:0100543	Cognitive impairment
ORPHANET:93947	PQBP1	10084	HP:0001276	Hypertonia
ORPHANET:93947	PQBP1	10084	HP:0000252	Microcephaly
ORPHANET:93947	PQBP1	10084	HP:0000276	Long face
ORPHANET:93947	PQBP1	10084	HP:0008572	External ear malformation
ORPHANET:93947	PQBP1	10084	HP:0001250	Seizures
ORPHANET:93947	PQBP1	10084	HP:0004322	Short stature
ORPHANET:93947	PQBP1	10084	HP:0000582	Upslanted palpebral fissure
ORPHANET:93947	PQBP1	10084	HP:0001631	Atria septal defect
ORPHANET:93947	PQBP1	10084	HP:0000286	Epicanthus
ORPHANET:93947	PQBP1	10084	HP:0000325	Triangular face
ORPHANET:93947	PQBP1	10084	HP:0010719	Abnormality of hair texture
ORPHANET:231169	PCDH15	65217	HP:0000738	Hallucinations
ORPHANET:231169	PCDH15	65217	HP:0002311	Incoordination
ORPHANET:231169	PCDH15	65217	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231169	PCDH15	65217	HP:0000682	Abnormality of dental enamel
ORPHANET:231169	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
ORPHANET:231169	PCDH15	65217	HP:0000505	Visual impairment
ORPHANET:231169	PCDH15	65217	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:231169	PCDH15	65217	HP:0001123	Visual field defect
ORPHANET:231169	PCDH15	65217	HP:0000540	Hypermetropia
ORPHANET:231169	PCDH15	65217	HP:0000662	Nyctalopia
ORPHANET:231169	PCDH15	65217	HP:0002120	Cerebral cortical atrophy
ORPHANET:231169	PCDH15	65217	HP:0000512	Abnormal electroretinogram
ORPHANET:231169	PCDH15	65217	HP:0000518	Cataract
ORPHANET:231169	PCDH15	65217	HP:0100543	Cognitive impairment
ORPHANET:231169	USH1C	10083	HP:0000738	Hallucinations
ORPHANET:231169	USH1C	10083	HP:0002311	Incoordination
ORPHANET:231169	USH1C	10083	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231169	USH1C	10083	HP:0000682	Abnormality of dental enamel
ORPHANET:231169	USH1C	10083	HP:0000407	Sensorineural hearing impairment
ORPHANET:231169	USH1C	10083	HP:0000505	Visual impairment
ORPHANET:231169	USH1C	10083	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:231169	USH1C	10083	HP:0001123	Visual field defect
ORPHANET:231169	USH1C	10083	HP:0000540	Hypermetropia
ORPHANET:231169	USH1C	10083	HP:0000662	Nyctalopia
ORPHANET:231169	USH1C	10083	HP:0002120	Cerebral cortical atrophy
ORPHANET:231169	USH1C	10083	HP:0000512	Abnormal electroretinogram
ORPHANET:231169	USH1C	10083	HP:0000518	Cataract
ORPHANET:231169	USH1C	10083	HP:0100543	Cognitive impairment
ORPHANET:231169	CIB2	10518	HP:0000738	Hallucinations
ORPHANET:231169	CIB2	10518	HP:0002311	Incoordination
ORPHANET:231169	CIB2	10518	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231169	CIB2	10518	HP:0000682	Abnormality of dental enamel
ORPHANET:231169	CIB2	10518	HP:0000407	Sensorineural hearing impairment
ORPHANET:231169	CIB2	10518	HP:0000505	Visual impairment
ORPHANET:231169	CIB2	10518	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:231169	CIB2	10518	HP:0001123	Visual field defect
ORPHANET:231169	CIB2	10518	HP:0000540	Hypermetropia
ORPHANET:231169	CIB2	10518	HP:0000662	Nyctalopia
ORPHANET:231169	CIB2	10518	HP:0002120	Cerebral cortical atrophy
ORPHANET:231169	CIB2	10518	HP:0000512	Abnormal electroretinogram
ORPHANET:231169	CIB2	10518	HP:0000518	Cataract
ORPHANET:231169	CIB2	10518	HP:0100543	Cognitive impairment
ORPHANET:231169	MYO7A	4647	HP:0000738	Hallucinations
ORPHANET:231169	MYO7A	4647	HP:0002311	Incoordination
ORPHANET:231169	MYO7A	4647	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231169	MYO7A	4647	HP:0000682	Abnormality of dental enamel
ORPHANET:231169	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
ORPHANET:231169	MYO7A	4647	HP:0000505	Visual impairment
ORPHANET:231169	MYO7A	4647	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:231169	MYO7A	4647	HP:0001123	Visual field defect
ORPHANET:231169	MYO7A	4647	HP:0000540	Hypermetropia
ORPHANET:231169	MYO7A	4647	HP:0000662	Nyctalopia
ORPHANET:231169	MYO7A	4647	HP:0002120	Cerebral cortical atrophy
ORPHANET:231169	MYO7A	4647	HP:0000512	Abnormal electroretinogram
ORPHANET:231169	MYO7A	4647	HP:0000518	Cataract
ORPHANET:231169	MYO7A	4647	HP:0100543	Cognitive impairment
ORPHANET:231169	CDH23	64072	HP:0000738	Hallucinations
ORPHANET:231169	CDH23	64072	HP:0002311	Incoordination
ORPHANET:231169	CDH23	64072	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231169	CDH23	64072	HP:0000682	Abnormality of dental enamel
ORPHANET:231169	CDH23	64072	HP:0000407	Sensorineural hearing impairment
ORPHANET:231169	CDH23	64072	HP:0000505	Visual impairment
ORPHANET:231169	CDH23	64072	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:231169	CDH23	64072	HP:0001123	Visual field defect
ORPHANET:231169	CDH23	64072	HP:0000540	Hypermetropia
ORPHANET:231169	CDH23	64072	HP:0000662	Nyctalopia
ORPHANET:231169	CDH23	64072	HP:0002120	Cerebral cortical atrophy
ORPHANET:231169	CDH23	64072	HP:0000512	Abnormal electroretinogram
ORPHANET:231169	CDH23	64072	HP:0000518	Cataract
ORPHANET:231169	CDH23	64072	HP:0100543	Cognitive impairment
ORPHANET:231169	USH1G	124590	HP:0000738	Hallucinations
ORPHANET:231169	USH1G	124590	HP:0002311	Incoordination
ORPHANET:231169	USH1G	124590	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:231169	USH1G	124590	HP:0000682	Abnormality of dental enamel
ORPHANET:231169	USH1G	124590	HP:0000407	Sensorineural hearing impairment
ORPHANET:231169	USH1G	124590	HP:0000505	Visual impairment
ORPHANET:231169	USH1G	124590	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:231169	USH1G	124590	HP:0001123	Visual field defect
ORPHANET:231169	USH1G	124590	HP:0000540	Hypermetropia
ORPHANET:231169	USH1G	124590	HP:0000662	Nyctalopia
ORPHANET:231169	USH1G	124590	HP:0002120	Cerebral cortical atrophy
ORPHANET:231169	USH1G	124590	HP:0000512	Abnormal electroretinogram
ORPHANET:231169	USH1G	124590	HP:0000518	Cataract
ORPHANET:231169	USH1G	124590	HP:0100543	Cognitive impairment
OMIM:107970	TGFB3	7043	HP:0001425	Heterogeneous
OMIM:107970	TGFB3	7043	HP:0011663	Right ventricular cardiomyopathy
OMIM:107970	TGFB3	7043	HP:0000006	Autosomal dominant inheritance
OMIM:107970	TGFB3	7043	HP:0004308	Ventricular arrhythmia
OMIM:107970	TGFB3	7043	HP:0004306	Abnormality of the endocardium
OMIM:107970	TGFB3	7043	HP:0001645	Sudden cardiac death
OMIM:107970	TGFB3	7043	HP:0004414	Abnormality of the pulmonary artery
OMIM:607944	ACP5	54	HP:0011108	Recurrent sinusitis
OMIM:607944	ACP5	54	HP:0000007	Autosomal recessive inheritance
OMIM:607944	ACP5	54	HP:0000369	Low-set ears
OMIM:607944	ACP5	54	HP:0001045	Vitiligo
OMIM:607944	ACP5	54	HP:0003301	Irregular vertebral endplates
OMIM:607944	ACP5	54	HP:0000821	Hypothyroidism
OMIM:607944	ACP5	54	HP:0004322	Short stature
OMIM:607944	ACP5	54	HP:0000006	Autosomal dominant inheritance
OMIM:607944	ACP5	54	HP:0002090	Pneumonia
OMIM:607944	ACP5	54	HP:0004979	Metaphyseal sclerosis
OMIM:607944	ACP5	54	HP:0001370	Rheumatoid arthritis
OMIM:607944	ACP5	54	HP:0005387	Combined immunodeficiency
OMIM:607944	ACP5	54	HP:0000926	Platyspondyly
OMIM:607944	ACP5	54	HP:0003621	Juvenile onset
OMIM:607944	ACP5	54	HP:0000979	Purpura
OMIM:607944	ACP5	54	HP:0002205	Recurrent respiratory infections
OMIM:607944	ACP5	54	HP:0005374	Cellular immunodeficiency
OMIM:607944	ACP5	54	HP:0002091	Restrictive lung disease
OMIM:607944	ACP5	54	HP:0001034	Hypermelanotic macule
OMIM:607944	ACP5	54	HP:0002657	Spondylometaphyseal dysplasia
OMIM:607944	ACP5	54	HP:0000403	Recurrent otitis media
OMIM:607944	ACP5	54	HP:0003025	Metaphyseal irregularity
OMIM:607944	ACP5	54	HP:0005403	T lymphocytopenia
OMIM:607944	ACP5	54	HP:0002716	Lymphadenopathy
OMIM:611561	B9D1	27077	HP:0000079	Abnormality of the urinary system
OMIM:611561	B9D1	27077	HP:0001425	Heterogeneous
OMIM:611561	B9D1	27077	HP:0002323	Anencephaly
OMIM:611561	B9D1	27077	HP:0000204	Cleft upper lip
OMIM:611561	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:611561	B9D1	27077	HP:0000175	Cleft palate
OMIM:611561	B9D1	27077	HP:0006487	Bowing of the long bones
OMIM:611561	B9D1	27077	HP:0001162	Postaxial hand polydactyly
OMIM:611561	B9D1	27077	HP:0000568	Microphthalmia
OMIM:611561	B9D1	27077	HP:0001408	Bile duct proliferation
OMIM:611561	B9D1	27077	HP:0002085	Occipital encephalocele
OMIM:611561	RPGRIP1	57096	HP:0000079	Abnormality of the urinary system
OMIM:611561	RPGRIP1	57096	HP:0001425	Heterogeneous
OMIM:611561	RPGRIP1	57096	HP:0002323	Anencephaly
OMIM:611561	RPGRIP1	57096	HP:0000204	Cleft upper lip
OMIM:611561	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:611561	RPGRIP1	57096	HP:0000175	Cleft palate
OMIM:611561	RPGRIP1	57096	HP:0006487	Bowing of the long bones
OMIM:611561	RPGRIP1	57096	HP:0001162	Postaxial hand polydactyly
OMIM:611561	RPGRIP1	57096	HP:0000568	Microphthalmia
OMIM:611561	RPGRIP1	57096	HP:0001408	Bile duct proliferation
OMIM:611561	RPGRIP1	57096	HP:0002085	Occipital encephalocele
OMIM:611561	CC2D2A	57545	HP:0000079	Abnormality of the urinary system
OMIM:611561	CC2D2A	57545	HP:0001425	Heterogeneous
OMIM:611561	CC2D2A	57545	HP:0002323	Anencephaly
OMIM:611561	CC2D2A	57545	HP:0000204	Cleft upper lip
OMIM:611561	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:611561	CC2D2A	57545	HP:0000175	Cleft palate
OMIM:611561	CC2D2A	57545	HP:0006487	Bowing of the long bones
OMIM:611561	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:611561	CC2D2A	57545	HP:0000568	Microphthalmia
OMIM:611561	CC2D2A	57545	HP:0001408	Bile duct proliferation
OMIM:611561	CC2D2A	57545	HP:0002085	Occipital encephalocele
OMIM:611561	B9D2	80776	HP:0000079	Abnormality of the urinary system
OMIM:611561	B9D2	80776	HP:0001425	Heterogeneous
OMIM:611561	B9D2	80776	HP:0002323	Anencephaly
OMIM:611561	B9D2	80776	HP:0000204	Cleft upper lip
OMIM:611561	B9D2	80776	HP:0000007	Autosomal recessive inheritance
OMIM:611561	B9D2	80776	HP:0000175	Cleft palate
OMIM:611561	B9D2	80776	HP:0006487	Bowing of the long bones
OMIM:611561	B9D2	80776	HP:0001162	Postaxial hand polydactyly
OMIM:611561	B9D2	80776	HP:0000568	Microphthalmia
OMIM:611561	B9D2	80776	HP:0001408	Bile duct proliferation
OMIM:611561	B9D2	80776	HP:0002085	Occipital encephalocele
OMIM:611561	CSPP1	79848	HP:0000079	Abnormality of the urinary system
OMIM:611561	CSPP1	79848	HP:0001425	Heterogeneous
OMIM:611561	CSPP1	79848	HP:0002323	Anencephaly
OMIM:611561	CSPP1	79848	HP:0000204	Cleft upper lip
OMIM:611561	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:611561	CSPP1	79848	HP:0000175	Cleft palate
OMIM:611561	CSPP1	79848	HP:0006487	Bowing of the long bones
OMIM:611561	CSPP1	79848	HP:0001162	Postaxial hand polydactyly
OMIM:611561	CSPP1	79848	HP:0000568	Microphthalmia
OMIM:611561	CSPP1	79848	HP:0001408	Bile duct proliferation
OMIM:611561	CSPP1	79848	HP:0002085	Occipital encephalocele
OMIM:611561	TMEM67	91147	HP:0000079	Abnormality of the urinary system
OMIM:611561	TMEM67	91147	HP:0001425	Heterogeneous
OMIM:611561	TMEM67	91147	HP:0002323	Anencephaly
OMIM:611561	TMEM67	91147	HP:0000204	Cleft upper lip
OMIM:611561	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:611561	TMEM67	91147	HP:0000175	Cleft palate
OMIM:611561	TMEM67	91147	HP:0006487	Bowing of the long bones
OMIM:611561	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
OMIM:611561	TMEM67	91147	HP:0000568	Microphthalmia
OMIM:611561	TMEM67	91147	HP:0001408	Bile duct proliferation
OMIM:611561	TMEM67	91147	HP:0002085	Occipital encephalocele
OMIM:611561	WDPCP	51057	HP:0000079	Abnormality of the urinary system
OMIM:611561	WDPCP	51057	HP:0001425	Heterogeneous
OMIM:611561	WDPCP	51057	HP:0002323	Anencephaly
OMIM:611561	WDPCP	51057	HP:0000204	Cleft upper lip
OMIM:611561	WDPCP	51057	HP:0000007	Autosomal recessive inheritance
OMIM:611561	WDPCP	51057	HP:0000175	Cleft palate
OMIM:611561	WDPCP	51057	HP:0006487	Bowing of the long bones
OMIM:611561	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
OMIM:611561	WDPCP	51057	HP:0000568	Microphthalmia
OMIM:611561	WDPCP	51057	HP:0001408	Bile duct proliferation
OMIM:611561	WDPCP	51057	HP:0002085	Occipital encephalocele
OMIM:611561	MKS1	54903	HP:0000079	Abnormality of the urinary system
OMIM:611561	MKS1	54903	HP:0001425	Heterogeneous
OMIM:611561	MKS1	54903	HP:0002323	Anencephaly
OMIM:611561	MKS1	54903	HP:0000204	Cleft upper lip
OMIM:611561	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:611561	MKS1	54903	HP:0000175	Cleft palate
OMIM:611561	MKS1	54903	HP:0006487	Bowing of the long bones
OMIM:611561	MKS1	54903	HP:0001162	Postaxial hand polydactyly
OMIM:611561	MKS1	54903	HP:0000568	Microphthalmia
OMIM:611561	MKS1	54903	HP:0001408	Bile duct proliferation
OMIM:611561	MKS1	54903	HP:0002085	Occipital encephalocele
OMIM:611561	CEP290	80184	HP:0000079	Abnormality of the urinary system
OMIM:611561	CEP290	80184	HP:0001425	Heterogeneous
OMIM:611561	CEP290	80184	HP:0002323	Anencephaly
OMIM:611561	CEP290	80184	HP:0000204	Cleft upper lip
OMIM:611561	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:611561	CEP290	80184	HP:0000175	Cleft palate
OMIM:611561	CEP290	80184	HP:0006487	Bowing of the long bones
OMIM:611561	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:611561	CEP290	80184	HP:0000568	Microphthalmia
OMIM:611561	CEP290	80184	HP:0001408	Bile duct proliferation
OMIM:611561	CEP290	80184	HP:0002085	Occipital encephalocele
OMIM:611561	RPGRIP1L	23322	HP:0000079	Abnormality of the urinary system
OMIM:611561	RPGRIP1L	23322	HP:0001425	Heterogeneous
OMIM:611561	RPGRIP1L	23322	HP:0002323	Anencephaly
OMIM:611561	RPGRIP1L	23322	HP:0000204	Cleft upper lip
OMIM:611561	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:611561	RPGRIP1L	23322	HP:0000175	Cleft palate
OMIM:611561	RPGRIP1L	23322	HP:0006487	Bowing of the long bones
OMIM:611561	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
OMIM:611561	RPGRIP1L	23322	HP:0000568	Microphthalmia
OMIM:611561	RPGRIP1L	23322	HP:0001408	Bile duct proliferation
OMIM:611561	RPGRIP1L	23322	HP:0002085	Occipital encephalocele
OMIM:611561	TCTN2	79867	HP:0000079	Abnormality of the urinary system
OMIM:611561	TCTN2	79867	HP:0001425	Heterogeneous
OMIM:611561	TCTN2	79867	HP:0002323	Anencephaly
OMIM:611561	TCTN2	79867	HP:0000204	Cleft upper lip
OMIM:611561	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:611561	TCTN2	79867	HP:0000175	Cleft palate
OMIM:611561	TCTN2	79867	HP:0006487	Bowing of the long bones
OMIM:611561	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
OMIM:611561	TCTN2	79867	HP:0000568	Microphthalmia
OMIM:611561	TCTN2	79867	HP:0001408	Bile duct proliferation
OMIM:611561	TCTN2	79867	HP:0002085	Occipital encephalocele
OMIM:611561	TMEM216	51259	HP:0000079	Abnormality of the urinary system
OMIM:611561	TMEM216	51259	HP:0001425	Heterogeneous
OMIM:611561	TMEM216	51259	HP:0002323	Anencephaly
OMIM:611561	TMEM216	51259	HP:0000204	Cleft upper lip
OMIM:611561	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:611561	TMEM216	51259	HP:0000175	Cleft palate
OMIM:611561	TMEM216	51259	HP:0006487	Bowing of the long bones
OMIM:611561	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:611561	TMEM216	51259	HP:0000568	Microphthalmia
OMIM:611561	TMEM216	51259	HP:0001408	Bile duct proliferation
OMIM:611561	TMEM216	51259	HP:0002085	Occipital encephalocele
OMIM:611561	TMEM231	79583	HP:0000079	Abnormality of the urinary system
OMIM:611561	TMEM231	79583	HP:0001425	Heterogeneous
OMIM:611561	TMEM231	79583	HP:0002323	Anencephaly
OMIM:611561	TMEM231	79583	HP:0000204	Cleft upper lip
OMIM:611561	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:611561	TMEM231	79583	HP:0000175	Cleft palate
OMIM:611561	TMEM231	79583	HP:0006487	Bowing of the long bones
OMIM:611561	TMEM231	79583	HP:0001162	Postaxial hand polydactyly
OMIM:611561	TMEM231	79583	HP:0000568	Microphthalmia
OMIM:611561	TMEM231	79583	HP:0001408	Bile duct proliferation
OMIM:611561	TMEM231	79583	HP:0002085	Occipital encephalocele
OMIM:604901	UTP4	84916	HP:0006579	Prolonged neonatal jaundice
OMIM:604901	UTP4	84916	HP:0002613	Biliary cirrhosis
OMIM:604901	UTP4	84916	HP:0000007	Autosomal recessive inheritance
OMIM:604901	UTP4	84916	HP:0001409	Portal hypertension
OMIM:121050	FBN2	2201	HP:0000347	Micrognathia
OMIM:121050	FBN2	2201	HP:0000268	Dolichocephaly
OMIM:121050	FBN2	2201	HP:0009465	Ulnar deviation of finger
OMIM:121050	FBN2	2201	HP:0100490	Camptodactyly of finger
OMIM:121050	FBN2	2201	HP:0000470	Short neck
OMIM:121050	FBN2	2201	HP:0002575	Tracheoesophageal fistula
OMIM:121050	FBN2	2201	HP:0000006	Autosomal dominant inheritance
OMIM:121050	FBN2	2201	HP:0006380	Knee flexion contracture
OMIM:121050	FBN2	2201	HP:0008572	External ear malformation
OMIM:121050	FBN2	2201	HP:0002987	Elbow flexion contracture
OMIM:121050	FBN2	2201	HP:0001629	Ventricular septal defect
OMIM:121050	FBN2	2201	HP:0001653	Mitral regurgitation
OMIM:121050	FBN2	2201	HP:0001166	Arachnodactyly
OMIM:121050	FBN2	2201	HP:0002007	Frontal bossing
OMIM:121050	FBN2	2201	HP:0001270	Motor delay
OMIM:121050	FBN2	2201	HP:0001634	Mitral valve prolapse
OMIM:121050	FBN2	2201	HP:0001631	Atria septal defect
OMIM:121050	FBN2	2201	HP:0000768	Pectus carinatum
OMIM:121050	FBN2	2201	HP:0001840	Metatarsus adductus
OMIM:121050	FBN2	2201	HP:0000174	Abnormality of the palate
OMIM:121050	FBN2	2201	HP:0001762	Talipes equinovarus
OMIM:121050	FBN2	2201	HP:0001647	Bicuspid aortic valve
OMIM:121050	FBN2	2201	HP:0100867	Duodenal stenosis
OMIM:121050	FBN2	2201	HP:0000218	High palate
OMIM:121050	FBN2	2201	HP:0000938	Osteopenia
OMIM:121050	FBN2	2201	HP:0002999	Patellar dislocation
OMIM:121050	FBN2	2201	HP:0003273	Hip contracture
OMIM:121050	FBN2	2201	HP:0002566	Intestinal malrotation
OMIM:121050	FBN2	2201	HP:0001633	Abnormality of the mitral valve
OMIM:121050	FBN2	2201	HP:0001083	Ectopia lentis
OMIM:121050	FBN2	2201	HP:0001724	Aortic dilatation
OMIM:121050	FBN2	2201	HP:0000248	Brachycephaly
OMIM:121050	FBN2	2201	HP:0002751	Kyphoscoliosis
OMIM:121050	FBN2	2201	HP:0011039	Abnormality of the helix
OMIM:121050	FBN2	2201	HP:0001181	Adducted thumb
OMIM:121050	FBN2	2201	HP:0002804	Arthrogryposis multiplex congenita
OMIM:121050	FBN2	2201	HP:0001643	Patent ductus arteriosus
OMIM:121050	FBN2	2201	HP:0000545	Myopia
OMIM:601650	SDHAF2	54949	HP:0003581	Adult onset
OMIM:601650	SDHAF2	54949	HP:0000006	Autosomal dominant inheritance
OMIM:601650	SDHA	6389	HP:0003581	Adult onset
OMIM:601650	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:601650	MAX	4149	HP:0003581	Adult onset
OMIM:601650	MAX	4149	HP:0000006	Autosomal dominant inheritance
OMIM:601650	SDHB	6390	HP:0003581	Adult onset
OMIM:601650	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:601650	TMEM127	55654	HP:0003581	Adult onset
OMIM:601650	TMEM127	55654	HP:0000006	Autosomal dominant inheritance
OMIM:601650	SDHC	6391	HP:0003581	Adult onset
OMIM:601650	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:601650	SDHD	6392	HP:0003581	Adult onset
OMIM:601650	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:601650	RET	5979	HP:0003581	Adult onset
OMIM:601650	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:601650	FH	2271	HP:0003581	Adult onset
OMIM:601650	FH	2271	HP:0000006	Autosomal dominant inheritance
OMIM:129400	TP63	8626	HP:0000327	Hypoplasia of the maxilla
OMIM:129400	TP63	8626	HP:0000430	Underdeveloped nasal alae
OMIM:129400	TP63	8626	HP:0001792	Small nail
OMIM:129400	TP63	8626	HP:0005280	Depressed nasal bridge
OMIM:129400	TP63	8626	HP:0000193	Bifid uvula
OMIM:129400	TP63	8626	HP:0000365	Hearing impairment
OMIM:129400	TP63	8626	HP:0000966	Hypohidrosis
OMIM:129400	TP63	8626	HP:0000160	Narrow mouth
OMIM:129400	TP63	8626	HP:0000691	Microdontia
OMIM:129400	TP63	8626	HP:0000963	Thin skin
OMIM:129400	TP63	8626	HP:0008070	Sparse hair
OMIM:129400	TP63	8626	HP:0000220	Velopharyngeal insufficiency
OMIM:129400	TP63	8626	HP:0000047	Hypospadias
OMIM:129400	TP63	8626	HP:0000508	Ptosis
OMIM:129400	TP63	8626	HP:0000348	High forehead
OMIM:129400	TP63	8626	HP:0000668	Hypodontia
OMIM:129400	TP63	8626	HP:0001159	Syndactyly
OMIM:129400	TP63	8626	HP:0004322	Short stature
OMIM:129400	TP63	8626	HP:0000403	Recurrent otitis media
OMIM:129400	TP63	8626	HP:0002235	Pili canaliculi
OMIM:129400	TP63	8626	HP:0000175	Cleft palate
OMIM:129400	TP63	8626	HP:0002213	Fine hair
OMIM:129400	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:129400	TP63	8626	HP:0000204	Cleft upper lip
OMIM:176670	LMNA	4000	HP:0002797	Osteolysis
OMIM:176670	LMNA	4000	HP:0001596	Alopecia
OMIM:176670	LMNA	4000	HP:0001658	Myocardial infarction
OMIM:176670	LMNA	4000	HP:0001288	Gait disturbance
OMIM:176670	LMNA	4000	HP:0000272	Malar flattening
OMIM:176670	LMNA	4000	HP:0001000	Abnormality of skin pigmentation
OMIM:176670	LMNA	4000	HP:0011800	Hypoplasia of midface
OMIM:176670	LMNA	4000	HP:0001510	Growth delay
OMIM:176670	LMNA	4000	HP:0000347	Micrognathia
OMIM:176670	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:176670	LMNA	4000	HP:0001824	Weight loss
OMIM:176670	LMNA	4000	HP:0000963	Thin skin
OMIM:176670	LMNA	4000	HP:0008572	External ear malformation
OMIM:176670	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:176670	LMNA	4000	HP:0001231	Abnormality of the fingernails
OMIM:176670	LMNA	4000	HP:0000520	Proptosis
OMIM:176670	LMNA	4000	HP:0002652	Skeletal dysplasia
OMIM:176670	LMNA	4000	HP:0000233	Thin vermilion border
OMIM:176670	LMNA	4000	HP:0000444	Convex nasal ridge
OMIM:176670	LMNA	4000	HP:0001800	Hypoplastic toenails
OMIM:176670	LMNA	4000	HP:0004322	Short stature
OMIM:176670	LMNA	4000	HP:0007495	Prematurely aged appearance
OMIM:176670	LMNA	4000	HP:0100679	Lack of skin elasticity
OMIM:176670	LMNA	4000	HP:0009124	Abnormality of adipose tissue
OMIM:176670	LMNA	4000	HP:0000078	Abnormality of the genital system
OMIM:176670	LMNA	4000	HP:0002829	Arthralgia
OMIM:176670	LMNA	4000	HP:0009804	Reduced number of teeth
OMIM:176670	LMNA	4000	HP:0000889	Abnormality of the clavicle
OMIM:176670	LMNA	4000	HP:0001063	Acrocyanosis
OMIM:176670	LMNA	4000	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:176670	LMNA	4000	HP:0001608	Abnormality of the voice
OMIM:176670	LMNA	4000	HP:0004349	Reduced bone mineral density
OMIM:176670	LMNA	4000	HP:0001677	Coronary artery disease
OMIM:176670	LMNA	4000	HP:0003272	Abnormality of the hip bone
OMIM:176670	LMNA	4000	HP:0009882	Short distal phalanx of finger
OMIM:176670	LMNA	4000	HP:0000684	Delayed eruption of teeth
OMIM:176670	LMNA	4000	HP:0000275	Narrow face
OMIM:176670	ZMPSTE24	10269	HP:0002797	Osteolysis
OMIM:176670	ZMPSTE24	10269	HP:0001596	Alopecia
OMIM:176670	ZMPSTE24	10269	HP:0001658	Myocardial infarction
OMIM:176670	ZMPSTE24	10269	HP:0001288	Gait disturbance
OMIM:176670	ZMPSTE24	10269	HP:0000272	Malar flattening
OMIM:176670	ZMPSTE24	10269	HP:0001000	Abnormality of skin pigmentation
OMIM:176670	ZMPSTE24	10269	HP:0011800	Hypoplasia of midface
OMIM:176670	ZMPSTE24	10269	HP:0001510	Growth delay
OMIM:176670	ZMPSTE24	10269	HP:0000347	Micrognathia
OMIM:176670	ZMPSTE24	10269	HP:0001635	Congestive heart failure
OMIM:176670	ZMPSTE24	10269	HP:0001824	Weight loss
OMIM:176670	ZMPSTE24	10269	HP:0000963	Thin skin
OMIM:176670	ZMPSTE24	10269	HP:0008572	External ear malformation
OMIM:176670	ZMPSTE24	10269	HP:0000006	Autosomal dominant inheritance
OMIM:176670	ZMPSTE24	10269	HP:0001231	Abnormality of the fingernails
OMIM:176670	ZMPSTE24	10269	HP:0000520	Proptosis
OMIM:176670	ZMPSTE24	10269	HP:0002652	Skeletal dysplasia
OMIM:176670	ZMPSTE24	10269	HP:0000233	Thin vermilion border
OMIM:176670	ZMPSTE24	10269	HP:0000444	Convex nasal ridge
OMIM:176670	ZMPSTE24	10269	HP:0001800	Hypoplastic toenails
OMIM:176670	ZMPSTE24	10269	HP:0004322	Short stature
OMIM:176670	ZMPSTE24	10269	HP:0007495	Prematurely aged appearance
OMIM:176670	ZMPSTE24	10269	HP:0100679	Lack of skin elasticity
OMIM:176670	ZMPSTE24	10269	HP:0009124	Abnormality of adipose tissue
OMIM:176670	ZMPSTE24	10269	HP:0000078	Abnormality of the genital system
OMIM:176670	ZMPSTE24	10269	HP:0002829	Arthralgia
OMIM:176670	ZMPSTE24	10269	HP:0009804	Reduced number of teeth
OMIM:176670	ZMPSTE24	10269	HP:0000889	Abnormality of the clavicle
OMIM:176670	ZMPSTE24	10269	HP:0001063	Acrocyanosis
OMIM:176670	ZMPSTE24	10269	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:176670	ZMPSTE24	10269	HP:0001608	Abnormality of the voice
OMIM:176670	ZMPSTE24	10269	HP:0004349	Reduced bone mineral density
OMIM:176670	ZMPSTE24	10269	HP:0001677	Coronary artery disease
OMIM:176670	ZMPSTE24	10269	HP:0003272	Abnormality of the hip bone
OMIM:176670	ZMPSTE24	10269	HP:0009882	Short distal phalanx of finger
OMIM:176670	ZMPSTE24	10269	HP:0000684	Delayed eruption of teeth
OMIM:176670	ZMPSTE24	10269	HP:0000275	Narrow face
OMIM:614896	CACNA1D	776	HP:0000365	Hearing impairment
OMIM:614896	CACNA1D	776	HP:0001662	Bradycardia
OMIM:614896	CACNA1D	776	HP:0000007	Autosomal recessive inheritance
OMIM:300055	MECP2	4204	HP:0000252	Microcephaly
OMIM:300055	MECP2	4204	HP:0000053	Macroorchidism
OMIM:300055	MECP2	4204	HP:0001276	Hypertonia
OMIM:300055	MECP2	4204	HP:0003677	Slow progression
OMIM:300055	MECP2	4204	HP:0001288	Gait disturbance
OMIM:300055	MECP2	4204	HP:0000347	Micrognathia
OMIM:300055	MECP2	4204	HP:0002376	Developmental regression
OMIM:300055	MECP2	4204	HP:0000164	Abnormality of the teeth
OMIM:300055	MECP2	4204	HP:0001251	Ataxia
OMIM:300055	MECP2	4204	HP:0002307	Drooling
OMIM:300055	MECP2	4204	HP:0000708	Behavioral abnormality
OMIM:300055	MECP2	4204	HP:0001347	Hyperreflexia
OMIM:300055	MECP2	4204	HP:0100543	Cognitive impairment
OMIM:300055	MECP2	4204	HP:0001300	Parkinsonism
OMIM:300055	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:300055	MECP2	4204	HP:0002353	EEG abnormality
OMIM:300055	MECP2	4204	HP:0003487	Babinski sign
OMIM:300055	MECP2	4204	HP:0000400	Macrotia
OMIM:300055	MECP2	4204	HP:0001337	Tremor
OMIM:300055	MECP2	4204	HP:0001250	Seizures
OMIM:300055	MECP2	4204	HP:0001263	Global developmental delay
OMIM:300055	MECP2	4204	HP:0001266	Choreoathetosis
OMIM:300055	MECP2	4204	HP:0002064	Spastic gait
OMIM:300055	MECP2	4204	HP:0002650	Scoliosis
OMIM:300055	MECP2	4204	HP:0000709	Psychosis
OMIM:300055	MECP2	4204	HP:0003781	Excessive salivation
OMIM:300055	MECP2	4204	HP:0001761	Pes cavus
OMIM:300055	MECP2	4204	HP:0000750	Delayed speech and language development
OMIM:300055	MECP2	4204	HP:0001626	Abnormality of the cardiovascular system
OMIM:300055	MECP2	4204	HP:0001256	Intellectual disability, mild
OMIM:300055	MECP2	4204	HP:0000218	High palate
OMIM:300055	MECP2	4204	HP:0000470	Short neck
OMIM:608957	CD8A	925	HP:0003577	Congenital onset
OMIM:608957	CD8A	925	HP:0000007	Autosomal recessive inheritance
OMIM:608957	CD8A	925	HP:0002110	Bronchiectasis
OMIM:608957	CD8A	925	HP:0002205	Recurrent respiratory infections
OMIM:608957	CD8A	925	HP:0002718	Recurrent bacterial infections
OMIM:608957	CD8A	925	HP:0004429	Recurrent viral infections
OMIM:251255	RBBP8	5932	HP:0000448	Prominent nose
OMIM:251255	RBBP8	5932	HP:0000007	Autosomal recessive inheritance
OMIM:251255	RBBP8	5932	HP:0000718	Aggressive behavior
OMIM:251255	RBBP8	5932	HP:0001249	Intellectual disability
OMIM:251255	RBBP8	5932	HP:0001822	Hallux valgus
OMIM:251255	RBBP8	5932	HP:0004220	Short middle phalanx of the 5th finger
OMIM:251255	RBBP8	5932	HP:0002943	Thoracic scoliosis
OMIM:251255	RBBP8	5932	HP:0004692	4-5 toe syndactyly
OMIM:251255	RBBP8	5932	HP:0005780	Absent fourth finger distal interphalangeal crease
OMIM:251255	RBBP8	5932	HP:0006216	Single interphalangeal crease of fifth finger
OMIM:251255	RBBP8	5932	HP:0000278	Retrognathia
OMIM:251255	RBBP8	5932	HP:0011451	Congenital microcephaly
OMIM:615670	NF2	4771	HP:0000006	Autosomal dominant inheritance
OMIM:615670	NF2	4771	HP:0003829	Incomplete penetrance
OMIM:615670	NF2	4771	HP:0003828	Variable expressivity
OMIM:615670	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
OMIM:615670	SMARCB1	6598	HP:0003829	Incomplete penetrance
OMIM:615670	SMARCB1	6598	HP:0003828	Variable expressivity
OMIM:615670	LZTR1	8216	HP:0000006	Autosomal dominant inheritance
OMIM:615670	LZTR1	8216	HP:0003829	Incomplete penetrance
OMIM:615670	LZTR1	8216	HP:0003828	Variable expressivity
OMIM:615670	COQ6	51004	HP:0000006	Autosomal dominant inheritance
OMIM:615670	COQ6	51004	HP:0003829	Incomplete penetrance
OMIM:615670	COQ6	51004	HP:0003828	Variable expressivity
OMIM:121400	KERA	11081	HP:0000006	Autosomal dominant inheritance
OMIM:121400	KERA	11081	HP:0000007	Autosomal recessive inheritance
OMIM:121400	KERA	11081	HP:0007720	Flat cornea
OMIM:125370	ATN1	1822	HP:0001336	Myoclonus
OMIM:125370	ATN1	1822	HP:0000639	Nystagmus
OMIM:125370	ATN1	1822	HP:0002072	Chorea
OMIM:125370	ATN1	1822	HP:0007256	Abnormal pyramidal signs
OMIM:125370	ATN1	1822	HP:0000726	Dementia
OMIM:125370	ATN1	1822	HP:0000006	Autosomal dominant inheritance
OMIM:125370	ATN1	1822	HP:0001250	Seizures
OMIM:125370	ATN1	1822	HP:0001266	Choreoathetosis
OMIM:125370	ATN1	1822	HP:0001251	Ataxia
OMIM:604498	MPL	4352	HP:0001873	Thrombocytopenia
OMIM:604498	MPL	4352	HP:0004322	Short stature
OMIM:604498	MPL	4352	HP:0001876	Pancytopenia
OMIM:604498	MPL	4352	HP:0000280	Coarse facial features
OMIM:604498	MPL	4352	HP:0000007	Autosomal recessive inheritance
OMIM:604498	MPL	4352	HP:0001903	Anemia
OMIM:604498	MPL	4352	HP:0000995	Melanocytic nevus
OMIM:604498	MPL	4352	HP:0004331	Decreased skull ossification
OMIM:604498	MPL	4352	HP:0000470	Short neck
OMIM:604498	MPL	4352	HP:0002650	Scoliosis
OMIM:604498	MPL	4352	HP:0004859	Amegakaryocytic thrombocytopenia
OMIM:604498	MPL	4352	HP:0001671	Abnormality of the cardiac septa
OMIM:604498	MPL	4352	HP:0001320	Cerebellar vermis hypoplasia
OMIM:604498	MPL	4352	HP:0003312	Abnormal form of the vertebral bodies
OMIM:615744	SCN1A	6323	HP:0006813	Hemiclonic seizures
OMIM:615744	SCN1A	6323	HP:0010819	Atonic seizures
OMIM:615744	SCN1A	6323	HP:0200134	Epileptic encephalopathy
OMIM:615744	SCN1A	6323	HP:0002133	Status epilepticus
OMIM:615744	SCN1A	6323	HP:0001263	Global developmental delay
OMIM:615744	SCN1A	6323	HP:0002373	Febrile seizures
OMIM:615744	SCN1A	6323	HP:0002121	Absence seizures
OMIM:615744	SCN1A	6323	HP:0001249	Intellectual disability
OMIM:615744	SCN1B	6324	HP:0006813	Hemiclonic seizures
OMIM:615744	SCN1B	6324	HP:0010819	Atonic seizures
OMIM:615744	SCN1B	6324	HP:0200134	Epileptic encephalopathy
OMIM:615744	SCN1B	6324	HP:0002133	Status epilepticus
OMIM:615744	SCN1B	6324	HP:0001263	Global developmental delay
OMIM:615744	SCN1B	6324	HP:0002373	Febrile seizures
OMIM:615744	SCN1B	6324	HP:0002121	Absence seizures
OMIM:615744	SCN1B	6324	HP:0001249	Intellectual disability
OMIM:615744	SCN2A	6326	HP:0006813	Hemiclonic seizures
OMIM:615744	SCN2A	6326	HP:0010819	Atonic seizures
OMIM:615744	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:615744	SCN2A	6326	HP:0002133	Status epilepticus
OMIM:615744	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:615744	SCN2A	6326	HP:0002373	Febrile seizures
OMIM:615744	SCN2A	6326	HP:0002121	Absence seizures
OMIM:615744	SCN2A	6326	HP:0001249	Intellectual disability
OMIM:615744	GABRG2	2566	HP:0006813	Hemiclonic seizures
OMIM:615744	GABRG2	2566	HP:0010819	Atonic seizures
OMIM:615744	GABRG2	2566	HP:0200134	Epileptic encephalopathy
OMIM:615744	GABRG2	2566	HP:0002133	Status epilepticus
OMIM:615744	GABRG2	2566	HP:0001263	Global developmental delay
OMIM:615744	GABRG2	2566	HP:0002373	Febrile seizures
OMIM:615744	GABRG2	2566	HP:0002121	Absence seizures
OMIM:615744	GABRG2	2566	HP:0001249	Intellectual disability
OMIM:615744	PCDH19	57526	HP:0006813	Hemiclonic seizures
OMIM:615744	PCDH19	57526	HP:0010819	Atonic seizures
OMIM:615744	PCDH19	57526	HP:0200134	Epileptic encephalopathy
OMIM:615744	PCDH19	57526	HP:0002133	Status epilepticus
OMIM:615744	PCDH19	57526	HP:0001263	Global developmental delay
OMIM:615744	PCDH19	57526	HP:0002373	Febrile seizures
OMIM:615744	PCDH19	57526	HP:0002121	Absence seizures
OMIM:615744	PCDH19	57526	HP:0001249	Intellectual disability
OMIM:615744	GABRA1	2554	HP:0006813	Hemiclonic seizures
OMIM:615744	GABRA1	2554	HP:0010819	Atonic seizures
OMIM:615744	GABRA1	2554	HP:0200134	Epileptic encephalopathy
OMIM:615744	GABRA1	2554	HP:0002133	Status epilepticus
OMIM:615744	GABRA1	2554	HP:0001263	Global developmental delay
OMIM:615744	GABRA1	2554	HP:0002373	Febrile seizures
OMIM:615744	GABRA1	2554	HP:0002121	Absence seizures
OMIM:615744	GABRA1	2554	HP:0001249	Intellectual disability
OMIM:615744	STXBP1	6812	HP:0006813	Hemiclonic seizures
OMIM:615744	STXBP1	6812	HP:0010819	Atonic seizures
OMIM:615744	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:615744	STXBP1	6812	HP:0002133	Status epilepticus
OMIM:615744	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:615744	STXBP1	6812	HP:0002373	Febrile seizures
OMIM:615744	STXBP1	6812	HP:0002121	Absence seizures
OMIM:615744	STXBP1	6812	HP:0001249	Intellectual disability
OMIM:615744	SCN9A	6335	HP:0006813	Hemiclonic seizures
OMIM:615744	SCN9A	6335	HP:0010819	Atonic seizures
OMIM:615744	SCN9A	6335	HP:0200134	Epileptic encephalopathy
OMIM:615744	SCN9A	6335	HP:0002133	Status epilepticus
OMIM:615744	SCN9A	6335	HP:0001263	Global developmental delay
OMIM:615744	SCN9A	6335	HP:0002373	Febrile seizures
OMIM:615744	SCN9A	6335	HP:0002121	Absence seizures
OMIM:615744	SCN9A	6335	HP:0001249	Intellectual disability
OMIM:209920	RFXANK	8625	HP:0001508	Failure to thrive
OMIM:209920	RFXANK	8625	HP:0001875	Neutropenia
OMIM:209920	RFXANK	8625	HP:0000007	Autosomal recessive inheritance
OMIM:209920	RFXANK	8625	HP:0007041	Chronic lymphocytic meningitis
OMIM:209920	RFXANK	8625	HP:0000006	Autosomal dominant inheritance
OMIM:209920	RFXANK	8625	HP:0004385	Protracted diarrhea
OMIM:209920	RFXANK	8625	HP:0001080	Biliary tract abnormality
OMIM:209920	RFXANK	8625	HP:0004432	Agammaglobulinemia
OMIM:209920	RFXANK	8625	HP:0000010	Recurrent urinary tract infections
OMIM:209920	RFXANK	8625	HP:0002383	Encephalitis
OMIM:209920	RFXANK	8625	HP:0005386	Recurrent protozoan infections
OMIM:209920	RFXANK	8625	HP:0002841	Recurrent fungal infections
OMIM:209920	RFXANK	8625	HP:0002583	Colitis
OMIM:209920	RFXANK	8625	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:209920	RFXANK	8625	HP:0002783	Recurrent lower respiratory tract infections
OMIM:209920	RFXANK	8625	HP:0002024	Malabsorption
OMIM:209920	RFXANK	8625	HP:0002718	Recurrent bacterial infections
OMIM:209920	RFXANK	8625	HP:0003139	Panhypogammaglobulinemia
OMIM:209920	RFXANK	8625	HP:0002788	Recurrent upper respiratory tract infections
OMIM:209920	RFXANK	8625	HP:0006562	Viral hepatitis
OMIM:209920	RFXANK	8625	HP:0011473	Villous atrophy
OMIM:209920	RFXANK	8625	HP:0002965	Cutaneous anergy
OMIM:209920	RFXANK	8625	HP:0004429	Recurrent viral infections
OMIM:209920	CIITA	4261	HP:0001508	Failure to thrive
OMIM:209920	CIITA	4261	HP:0001875	Neutropenia
OMIM:209920	CIITA	4261	HP:0000007	Autosomal recessive inheritance
OMIM:209920	CIITA	4261	HP:0007041	Chronic lymphocytic meningitis
OMIM:209920	CIITA	4261	HP:0000006	Autosomal dominant inheritance
OMIM:209920	CIITA	4261	HP:0004385	Protracted diarrhea
OMIM:209920	CIITA	4261	HP:0001080	Biliary tract abnormality
OMIM:209920	CIITA	4261	HP:0004432	Agammaglobulinemia
OMIM:209920	CIITA	4261	HP:0000010	Recurrent urinary tract infections
OMIM:209920	CIITA	4261	HP:0002383	Encephalitis
OMIM:209920	CIITA	4261	HP:0005386	Recurrent protozoan infections
OMIM:209920	CIITA	4261	HP:0002841	Recurrent fungal infections
OMIM:209920	CIITA	4261	HP:0002583	Colitis
OMIM:209920	CIITA	4261	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:209920	CIITA	4261	HP:0002783	Recurrent lower respiratory tract infections
OMIM:209920	CIITA	4261	HP:0002024	Malabsorption
OMIM:209920	CIITA	4261	HP:0002718	Recurrent bacterial infections
OMIM:209920	CIITA	4261	HP:0003139	Panhypogammaglobulinemia
OMIM:209920	CIITA	4261	HP:0002788	Recurrent upper respiratory tract infections
OMIM:209920	CIITA	4261	HP:0006562	Viral hepatitis
OMIM:209920	CIITA	4261	HP:0011473	Villous atrophy
OMIM:209920	CIITA	4261	HP:0002965	Cutaneous anergy
OMIM:209920	CIITA	4261	HP:0004429	Recurrent viral infections
OMIM:209920	RFX5	5993	HP:0001508	Failure to thrive
OMIM:209920	RFX5	5993	HP:0001875	Neutropenia
OMIM:209920	RFX5	5993	HP:0000007	Autosomal recessive inheritance
OMIM:209920	RFX5	5993	HP:0007041	Chronic lymphocytic meningitis
OMIM:209920	RFX5	5993	HP:0000006	Autosomal dominant inheritance
OMIM:209920	RFX5	5993	HP:0004385	Protracted diarrhea
OMIM:209920	RFX5	5993	HP:0001080	Biliary tract abnormality
OMIM:209920	RFX5	5993	HP:0004432	Agammaglobulinemia
OMIM:209920	RFX5	5993	HP:0000010	Recurrent urinary tract infections
OMIM:209920	RFX5	5993	HP:0002383	Encephalitis
OMIM:209920	RFX5	5993	HP:0005386	Recurrent protozoan infections
OMIM:209920	RFX5	5993	HP:0002841	Recurrent fungal infections
OMIM:209920	RFX5	5993	HP:0002583	Colitis
OMIM:209920	RFX5	5993	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:209920	RFX5	5993	HP:0002783	Recurrent lower respiratory tract infections
OMIM:209920	RFX5	5993	HP:0002024	Malabsorption
OMIM:209920	RFX5	5993	HP:0002718	Recurrent bacterial infections
OMIM:209920	RFX5	5993	HP:0003139	Panhypogammaglobulinemia
OMIM:209920	RFX5	5993	HP:0002788	Recurrent upper respiratory tract infections
OMIM:209920	RFX5	5993	HP:0006562	Viral hepatitis
OMIM:209920	RFX5	5993	HP:0011473	Villous atrophy
OMIM:209920	RFX5	5993	HP:0002965	Cutaneous anergy
OMIM:209920	RFX5	5993	HP:0004429	Recurrent viral infections
OMIM:209920	RFXAP	5994	HP:0001508	Failure to thrive
OMIM:209920	RFXAP	5994	HP:0001875	Neutropenia
OMIM:209920	RFXAP	5994	HP:0000007	Autosomal recessive inheritance
OMIM:209920	RFXAP	5994	HP:0007041	Chronic lymphocytic meningitis
OMIM:209920	RFXAP	5994	HP:0000006	Autosomal dominant inheritance
OMIM:209920	RFXAP	5994	HP:0004385	Protracted diarrhea
OMIM:209920	RFXAP	5994	HP:0001080	Biliary tract abnormality
OMIM:209920	RFXAP	5994	HP:0004432	Agammaglobulinemia
OMIM:209920	RFXAP	5994	HP:0000010	Recurrent urinary tract infections
OMIM:209920	RFXAP	5994	HP:0002383	Encephalitis
OMIM:209920	RFXAP	5994	HP:0005386	Recurrent protozoan infections
OMIM:209920	RFXAP	5994	HP:0002841	Recurrent fungal infections
OMIM:209920	RFXAP	5994	HP:0002583	Colitis
OMIM:209920	RFXAP	5994	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:209920	RFXAP	5994	HP:0002783	Recurrent lower respiratory tract infections
OMIM:209920	RFXAP	5994	HP:0002024	Malabsorption
OMIM:209920	RFXAP	5994	HP:0002718	Recurrent bacterial infections
OMIM:209920	RFXAP	5994	HP:0003139	Panhypogammaglobulinemia
OMIM:209920	RFXAP	5994	HP:0002788	Recurrent upper respiratory tract infections
OMIM:209920	RFXAP	5994	HP:0006562	Viral hepatitis
OMIM:209920	RFXAP	5994	HP:0011473	Villous atrophy
OMIM:209920	RFXAP	5994	HP:0002965	Cutaneous anergy
OMIM:209920	RFXAP	5994	HP:0004429	Recurrent viral infections
OMIM:606705	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:606705	DIAPH1	1729	HP:0000360	Tinnitus
OMIM:606705	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:606705	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:606705	CEACAM16	388551	HP:0000360	Tinnitus
OMIM:606705	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:606705	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:606705	SLC17A8	246213	HP:0000360	Tinnitus
OMIM:606705	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:606705	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:606705	TJP2	9414	HP:0000360	Tinnitus
OMIM:606705	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:606705	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:606705	ACTG1	71	HP:0000360	Tinnitus
OMIM:606705	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:606705	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:606705	CCDC50	152137	HP:0000360	Tinnitus
OMIM:606705	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:606705	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:606705	MIR96	407053	HP:0000360	Tinnitus
OMIM:606705	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:606705	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:606705	GJB2	2706	HP:0000360	Tinnitus
OMIM:606705	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:606705	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:606705	POU4F3	5459	HP:0000360	Tinnitus
OMIM:606705	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:606705	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:606705	GJB3	2707	HP:0000360	Tinnitus
OMIM:606705	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:606705	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:606705	MYH9	4627	HP:0000360	Tinnitus
OMIM:606705	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:606705	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:606705	CRYM	1428	HP:0000360	Tinnitus
OMIM:606705	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:606705	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:606705	COL11A2	1302	HP:0000360	Tinnitus
OMIM:606705	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:606705	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:606705	EYA4	2070	HP:0000360	Tinnitus
OMIM:606705	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:606705	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:606705	DFNA5	1687	HP:0000360	Tinnitus
OMIM:606705	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:606705	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:606705	DIAPH3	81624	HP:0000360	Tinnitus
OMIM:606705	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:606705	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:606705	TMC1	117531	HP:0000360	Tinnitus
OMIM:606705	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:606705	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:606705	COCH	1690	HP:0000360	Tinnitus
OMIM:606705	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:606705	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:606705	OSBPL2	9885	HP:0000360	Tinnitus
OMIM:606705	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:606705	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:606705	SIX1	6495	HP:0000360	Tinnitus
OMIM:606705	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:606705	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:606705	TECTA	7007	HP:0000360	Tinnitus
OMIM:606705	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:606705	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:606705	MYO1A	4640	HP:0000360	Tinnitus
OMIM:606705	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:606705	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:606705	MYO1C	4641	HP:0000360	Tinnitus
OMIM:606705	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:606705	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:606705	MYO6	4646	HP:0000360	Tinnitus
OMIM:606705	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:606705	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:606705	MYO7A	4647	HP:0000360	Tinnitus
OMIM:606705	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:606705	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:606705	GRHL2	79977	HP:0000360	Tinnitus
OMIM:606705	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:606705	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:606705	DIABLO	56616	HP:0000360	Tinnitus
OMIM:606705	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:606705	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:606705	MYH14	79784	HP:0000360	Tinnitus
OMIM:606705	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:606705	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:606705	P2RX2	22953	HP:0000360	Tinnitus
OMIM:606705	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:606705	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:606705	WFS1	7466	HP:0000360	Tinnitus
OMIM:606705	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:606705	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:606705	TNC	3371	HP:0000360	Tinnitus
OMIM:606705	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:606705	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:606705	KCNQ4	9132	HP:0000360	Tinnitus
OMIM:606705	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:606705	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:606705	HOMER2	9455	HP:0000360	Tinnitus
OMIM:606705	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:606705	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:606705	GJB6	10804	HP:0000360	Tinnitus
OMIM:606705	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:606705	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:606705	TBC1D24	57465	HP:0000360	Tinnitus
OMIM:606705	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:219800	CTNS	1497	HP:0002857	Genu valgum
OMIM:219800	CTNS	1497	HP:0002750	Delayed skeletal maturation
OMIM:219800	CTNS	1497	HP:0001744	Splenomegaly
OMIM:219800	CTNS	1497	HP:0003202	Skeletal muscle atrophy
OMIM:219800	CTNS	1497	HP:0000819	Diabetes mellitus
OMIM:219800	CTNS	1497	HP:0002344	Progressive neurologic deterioration
OMIM:219800	CTNS	1497	HP:0000007	Autosomal recessive inheritance
OMIM:219800	CTNS	1497	HP:0002059	Cerebral atrophy
OMIM:219800	CTNS	1497	HP:0002015	Dysphagia
OMIM:219800	CTNS	1497	HP:0001531	Failure to thrive in infancy
OMIM:219800	CTNS	1497	HP:0003251	Male infertility
OMIM:219800	CTNS	1497	HP:0000613	Photophobia
OMIM:219800	CTNS	1497	HP:0001608	Abnormality of the voice
OMIM:219800	CTNS	1497	HP:0002240	Hepatomegaly
OMIM:219800	CTNS	1497	HP:0000580	Pigmentary retinopathy
OMIM:219800	CTNS	1497	HP:0000966	Hypohidrosis
OMIM:219800	CTNS	1497	HP:0003198	Myopathy
OMIM:219800	CTNS	1497	HP:0000083	Renal insufficiency
OMIM:219800	CTNS	1497	HP:0004911	Episodic metabolic acidosis
OMIM:219800	CTNS	1497	HP:0003016	Metaphyseal widening
OMIM:219800	CTNS	1497	HP:0001010	Hypopigmentation of the skin
OMIM:219800	CTNS	1497	HP:0001944	Dehydration
OMIM:219800	CTNS	1497	HP:0000093	Proteinuria
OMIM:219800	CTNS	1497	HP:0005599	Hypopigmentation of hair
OMIM:219800	CTNS	1497	HP:0002007	Frontal bossing
OMIM:219800	CTNS	1497	HP:0007663	Reduced visual acuity
OMIM:219800	CTNS	1497	HP:0004322	Short stature
OMIM:219800	CTNS	1497	HP:0000505	Visual impairment
OMIM:219800	CTNS	1497	HP:0000787	Nephrolithiasis
OMIM:601518	BRCA1	672	HP:0002664	Neoplasm
OMIM:601518	BRCA1	672	HP:0000006	Autosomal dominant inheritance
OMIM:601518	BRCA1	672	HP:0012125	Prostate cancer
OMIM:601518	CHEK2	11200	HP:0002664	Neoplasm
OMIM:601518	CHEK2	11200	HP:0000006	Autosomal dominant inheritance
OMIM:601518	CHEK2	11200	HP:0012125	Prostate cancer
OMIM:601518	ELAC2	60528	HP:0002664	Neoplasm
OMIM:601518	ELAC2	60528	HP:0000006	Autosomal dominant inheritance
OMIM:601518	ELAC2	60528	HP:0012125	Prostate cancer
OMIM:601518	EPHB2	2048	HP:0002664	Neoplasm
OMIM:601518	EPHB2	2048	HP:0000006	Autosomal dominant inheritance
OMIM:601518	EPHB2	2048	HP:0012125	Prostate cancer
OMIM:601518	HNF1B	6928	HP:0002664	Neoplasm
OMIM:601518	HNF1B	6928	HP:0000006	Autosomal dominant inheritance
OMIM:601518	HNF1B	6928	HP:0012125	Prostate cancer
OMIM:601518	HOXB13	10481	HP:0002664	Neoplasm
OMIM:601518	HOXB13	10481	HP:0000006	Autosomal dominant inheritance
OMIM:601518	HOXB13	10481	HP:0012125	Prostate cancer
OMIM:601518	MSR1	4481	HP:0002664	Neoplasm
OMIM:601518	MSR1	4481	HP:0000006	Autosomal dominant inheritance
OMIM:601518	MSR1	4481	HP:0012125	Prostate cancer
OMIM:601518	BRCA2	675	HP:0002664	Neoplasm
OMIM:601518	BRCA2	675	HP:0000006	Autosomal dominant inheritance
OMIM:601518	BRCA2	675	HP:0012125	Prostate cancer
OMIM:601518	RNASEL	6041	HP:0002664	Neoplasm
OMIM:601518	RNASEL	6041	HP:0000006	Autosomal dominant inheritance
OMIM:601518	RNASEL	6041	HP:0012125	Prostate cancer
OMIM:601518	NBN	4683	HP:0002664	Neoplasm
OMIM:601518	NBN	4683	HP:0000006	Autosomal dominant inheritance
OMIM:601518	NBN	4683	HP:0012125	Prostate cancer
OMIM:601518	SRD5A2	6716	HP:0002664	Neoplasm
OMIM:601518	SRD5A2	6716	HP:0000006	Autosomal dominant inheritance
OMIM:601518	SRD5A2	6716	HP:0012125	Prostate cancer
OMIM:601518	MSMB	4477	HP:0002664	Neoplasm
OMIM:601518	MSMB	4477	HP:0000006	Autosomal dominant inheritance
OMIM:601518	MSMB	4477	HP:0012125	Prostate cancer
OMIM:612644	DIAPH1	1729	HP:0005101	High-frequency hearing impairment
OMIM:612644	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:612644	CEACAM16	388551	HP:0005101	High-frequency hearing impairment
OMIM:612644	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:612644	SLC17A8	246213	HP:0005101	High-frequency hearing impairment
OMIM:612644	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:612644	TJP2	9414	HP:0005101	High-frequency hearing impairment
OMIM:612644	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:612644	ACTG1	71	HP:0005101	High-frequency hearing impairment
OMIM:612644	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:612644	CCDC50	152137	HP:0005101	High-frequency hearing impairment
OMIM:612644	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:612644	MIR96	407053	HP:0005101	High-frequency hearing impairment
OMIM:612644	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:612644	GJB2	2706	HP:0005101	High-frequency hearing impairment
OMIM:612644	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:612644	GJB3	2707	HP:0005101	High-frequency hearing impairment
OMIM:612644	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:612644	POU4F3	5459	HP:0005101	High-frequency hearing impairment
OMIM:612644	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:612644	MYH9	4627	HP:0005101	High-frequency hearing impairment
OMIM:612644	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:612644	CRYM	1428	HP:0005101	High-frequency hearing impairment
OMIM:612644	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:612644	COL11A2	1302	HP:0005101	High-frequency hearing impairment
OMIM:612644	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:612644	EYA4	2070	HP:0005101	High-frequency hearing impairment
OMIM:612644	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:612644	DFNA5	1687	HP:0005101	High-frequency hearing impairment
OMIM:612644	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:612644	DIAPH3	81624	HP:0005101	High-frequency hearing impairment
OMIM:612644	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:612644	TMC1	117531	HP:0005101	High-frequency hearing impairment
OMIM:612644	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:612644	COCH	1690	HP:0005101	High-frequency hearing impairment
OMIM:612644	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:612644	OSBPL2	9885	HP:0005101	High-frequency hearing impairment
OMIM:612644	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:612644	SIX1	6495	HP:0005101	High-frequency hearing impairment
OMIM:612644	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:612644	TECTA	7007	HP:0005101	High-frequency hearing impairment
OMIM:612644	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:612644	MYO1A	4640	HP:0005101	High-frequency hearing impairment
OMIM:612644	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:612644	MYO1C	4641	HP:0005101	High-frequency hearing impairment
OMIM:612644	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:612644	MYO6	4646	HP:0005101	High-frequency hearing impairment
OMIM:612644	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:612644	MYO7A	4647	HP:0005101	High-frequency hearing impairment
OMIM:612644	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:612644	GRHL2	79977	HP:0005101	High-frequency hearing impairment
OMIM:612644	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:612644	DIABLO	56616	HP:0005101	High-frequency hearing impairment
OMIM:612644	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:612644	MYH14	79784	HP:0005101	High-frequency hearing impairment
OMIM:612644	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:612644	P2RX2	22953	HP:0005101	High-frequency hearing impairment
OMIM:612644	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:612644	WFS1	7466	HP:0005101	High-frequency hearing impairment
OMIM:612644	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:612644	TNC	3371	HP:0005101	High-frequency hearing impairment
OMIM:612644	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:612644	KCNQ4	9132	HP:0005101	High-frequency hearing impairment
OMIM:612644	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:612644	HOMER2	9455	HP:0005101	High-frequency hearing impairment
OMIM:612644	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:612644	GJB6	10804	HP:0005101	High-frequency hearing impairment
OMIM:612644	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:612644	TBC1D24	57465	HP:0005101	High-frequency hearing impairment
OMIM:612644	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:232600	PYGM	5837	HP:0003236	Elevated serum creatine phosphokinase
OMIM:232600	PYGM	5837	HP:0003710	Exercise-induced muscle cramps
OMIM:232600	PYGM	5837	HP:0003198	Myopathy
OMIM:232600	PYGM	5837	HP:0003201	Rhabdomyolysis
OMIM:232600	PYGM	5837	HP:0002913	Myoglobinuria
OMIM:232600	PYGM	5837	HP:0001324	Muscle weakness
OMIM:232600	PYGM	5837	HP:0001626	Abnormality of the cardiovascular system
OMIM:232600	PYGM	5837	HP:0000007	Autosomal recessive inheritance
OMIM:232600	PYGM	5837	HP:0003581	Adult onset
OMIM:232600	PYGM	5837	HP:0000083	Renal insufficiency
OMIM:614436	LRSAM1	90678	HP:0001284	Areflexia
OMIM:614436	LRSAM1	90678	HP:0002460	Distal muscle weakness
OMIM:614436	LRSAM1	90678	HP:0001761	Pes cavus
OMIM:614436	LRSAM1	90678	HP:0002380	Fasciculations
OMIM:614436	LRSAM1	90678	HP:0003677	Slow progression
OMIM:614436	LRSAM1	90678	HP:0001265	Hyporeflexia
OMIM:614436	LRSAM1	90678	HP:0003693	Distal amyotrophy
OMIM:614436	LRSAM1	90678	HP:0002936	Distal sensory impairment
OMIM:614436	LRSAM1	90678	HP:0001765	Hammertoe
OMIM:614436	LRSAM1	90678	HP:0009027	Foot dorsiflexor weakness
OMIM:614436	LRSAM1	90678	HP:0000007	Autosomal recessive inheritance
OMIM:614436	LRSAM1	90678	HP:0000006	Autosomal dominant inheritance
OMIM:614436	LRSAM1	90678	HP:0000764	Peripheral axonal degeneration
OMIM:516020	CYTB	4519	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:516020	CYTB	4519	HP:0003674	Onset
OMIM:516020	CYTB	4519	HP:0002315	Headache
OMIM:516020	CYTB	4519	HP:0000543	Optic disc pallor
OMIM:516020	CYTB	4519	HP:0001427	Mitochondrial inheritance
OMIM:614673	ASPM	259266	HP:0010864	Intellectual disability, severe
OMIM:614673	ASPM	259266	HP:0000252	Microcephaly
OMIM:614673	ASPM	259266	HP:0003577	Congenital onset
OMIM:614673	ASPM	259266	HP:0000007	Autosomal recessive inheritance
OMIM:614673	ASPM	259266	HP:0000278	Retrognathia
OMIM:614673	ASPM	259266	HP:0000340	Sloping forehead
OMIM:614673	MCPH1	79648	HP:0010864	Intellectual disability, severe
OMIM:614673	MCPH1	79648	HP:0000252	Microcephaly
OMIM:614673	MCPH1	79648	HP:0003577	Congenital onset
OMIM:614673	MCPH1	79648	HP:0000007	Autosomal recessive inheritance
OMIM:614673	MCPH1	79648	HP:0000278	Retrognathia
OMIM:614673	MCPH1	79648	HP:0000340	Sloping forehead
OMIM:614673	ANKLE2	23141	HP:0010864	Intellectual disability, severe
OMIM:614673	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:614673	ANKLE2	23141	HP:0003577	Congenital onset
OMIM:614673	ANKLE2	23141	HP:0000007	Autosomal recessive inheritance
OMIM:614673	ANKLE2	23141	HP:0000278	Retrognathia
OMIM:614673	ANKLE2	23141	HP:0000340	Sloping forehead
OMIM:614673	SASS6	163786	HP:0010864	Intellectual disability, severe
OMIM:614673	SASS6	163786	HP:0000252	Microcephaly
OMIM:614673	SASS6	163786	HP:0003577	Congenital onset
OMIM:614673	SASS6	163786	HP:0000007	Autosomal recessive inheritance
OMIM:614673	SASS6	163786	HP:0000278	Retrognathia
OMIM:614673	SASS6	163786	HP:0000340	Sloping forehead
OMIM:614673	CDK5RAP2	55755	HP:0010864	Intellectual disability, severe
OMIM:614673	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:614673	CDK5RAP2	55755	HP:0003577	Congenital onset
OMIM:614673	CDK5RAP2	55755	HP:0000007	Autosomal recessive inheritance
OMIM:614673	CDK5RAP2	55755	HP:0000278	Retrognathia
OMIM:614673	CDK5RAP2	55755	HP:0000340	Sloping forehead
OMIM:614673	MFSD2A	84879	HP:0010864	Intellectual disability, severe
OMIM:614673	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:614673	MFSD2A	84879	HP:0003577	Congenital onset
OMIM:614673	MFSD2A	84879	HP:0000007	Autosomal recessive inheritance
OMIM:614673	MFSD2A	84879	HP:0000278	Retrognathia
OMIM:614673	MFSD2A	84879	HP:0000340	Sloping forehead
OMIM:614673	CEP152	22995	HP:0010864	Intellectual disability, severe
OMIM:614673	CEP152	22995	HP:0000252	Microcephaly
OMIM:614673	CEP152	22995	HP:0003577	Congenital onset
OMIM:614673	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:614673	CEP152	22995	HP:0000278	Retrognathia
OMIM:614673	CEP152	22995	HP:0000340	Sloping forehead
OMIM:614673	WDR62	284403	HP:0010864	Intellectual disability, severe
OMIM:614673	WDR62	284403	HP:0000252	Microcephaly
OMIM:614673	WDR62	284403	HP:0003577	Congenital onset
OMIM:614673	WDR62	284403	HP:0000007	Autosomal recessive inheritance
OMIM:614673	WDR62	284403	HP:0000278	Retrognathia
OMIM:614673	WDR62	284403	HP:0000340	Sloping forehead
OMIM:614673	PHC1	1911	HP:0010864	Intellectual disability, severe
OMIM:614673	PHC1	1911	HP:0000252	Microcephaly
OMIM:614673	PHC1	1911	HP:0003577	Congenital onset
OMIM:614673	PHC1	1911	HP:0000007	Autosomal recessive inheritance
OMIM:614673	PHC1	1911	HP:0000278	Retrognathia
OMIM:614673	PHC1	1911	HP:0000340	Sloping forehead
OMIM:614673	CASC5	57082	HP:0010864	Intellectual disability, severe
OMIM:614673	CASC5	57082	HP:0000252	Microcephaly
OMIM:614673	CASC5	57082	HP:0003577	Congenital onset
OMIM:614673	CASC5	57082	HP:0000007	Autosomal recessive inheritance
OMIM:614673	CASC5	57082	HP:0000278	Retrognathia
OMIM:614673	CASC5	57082	HP:0000340	Sloping forehead
OMIM:614673	CENPJ	55835	HP:0010864	Intellectual disability, severe
OMIM:614673	CENPJ	55835	HP:0000252	Microcephaly
OMIM:614673	CENPJ	55835	HP:0003577	Congenital onset
OMIM:614673	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:614673	CENPJ	55835	HP:0000278	Retrognathia
OMIM:614673	CENPJ	55835	HP:0000340	Sloping forehead
OMIM:614673	STIL	6491	HP:0010864	Intellectual disability, severe
OMIM:614673	STIL	6491	HP:0000252	Microcephaly
OMIM:614673	STIL	6491	HP:0003577	Congenital onset
OMIM:614673	STIL	6491	HP:0000007	Autosomal recessive inheritance
OMIM:614673	STIL	6491	HP:0000278	Retrognathia
OMIM:614673	STIL	6491	HP:0000340	Sloping forehead
OMIM:614673	CDK6	1021	HP:0010864	Intellectual disability, severe
OMIM:614673	CDK6	1021	HP:0000252	Microcephaly
OMIM:614673	CDK6	1021	HP:0003577	Congenital onset
OMIM:614673	CDK6	1021	HP:0000007	Autosomal recessive inheritance
OMIM:614673	CDK6	1021	HP:0000278	Retrognathia
OMIM:614673	CDK6	1021	HP:0000340	Sloping forehead
OMIM:614673	CEP135	9662	HP:0010864	Intellectual disability, severe
OMIM:614673	CEP135	9662	HP:0000252	Microcephaly
OMIM:614673	CEP135	9662	HP:0003577	Congenital onset
OMIM:614673	CEP135	9662	HP:0000007	Autosomal recessive inheritance
OMIM:614673	CEP135	9662	HP:0000278	Retrognathia
OMIM:614673	CEP135	9662	HP:0000340	Sloping forehead
OMIM:614673	CEP63	80254	HP:0010864	Intellectual disability, severe
OMIM:614673	CEP63	80254	HP:0000252	Microcephaly
OMIM:614673	CEP63	80254	HP:0003577	Congenital onset
OMIM:614673	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:614673	CEP63	80254	HP:0000278	Retrognathia
OMIM:614673	CEP63	80254	HP:0000340	Sloping forehead
OMIM:608804	GJC2	57165	HP:0000648	Optic atrophy
OMIM:608804	GJC2	57165	HP:0001583	Rotary nystagmus
OMIM:608804	GJC2	57165	HP:0000007	Autosomal recessive inheritance
OMIM:608804	GJC2	57165	HP:0000545	Myopia
OMIM:608804	GJC2	57165	HP:0006808	Cerebral hypomyelination
OMIM:608804	GJC2	57165	HP:0100543	Cognitive impairment
OMIM:608804	GJC2	57165	HP:0008936	Muscular hypotonia of the trunk
OMIM:608804	GJC2	57165	HP:0003431	Decreased motor nerve conduction velocity
OMIM:608804	GJC2	57165	HP:0002415	Leukodystrophy
OMIM:608804	GJC2	57165	HP:0002063	Rigidity
OMIM:608804	GJC2	57165	HP:0001263	Global developmental delay
OMIM:608804	GJC2	57165	HP:0003593	Infantile onset
OMIM:608804	GJC2	57165	HP:0001251	Ataxia
OMIM:608804	GJC2	57165	HP:0001250	Seizures
OMIM:608804	GJC2	57165	HP:0002313	Spastic paraparesis
OMIM:608804	GJC2	57165	HP:0001260	Dysarthria
OMIM:608804	GJC2	57165	HP:0003487	Babinski sign
OMIM:608804	GJC2	57165	HP:0002059	Cerebral atrophy
OMIM:608804	GJC2	57165	HP:0002465	Poor speech
OMIM:608804	GJC2	57165	HP:0001270	Motor delay
OMIM:608804	GJC2	57165	HP:0010628	Facial palsy
OMIM:608804	GJC2	57165	HP:0001266	Choreoathetosis
OMIM:608804	GJC2	57165	HP:0001332	Dystonia
OMIM:130650	NSD1	64324	HP:0000150	Gonadoblastoma
OMIM:130650	NSD1	64324	HP:0000006	Autosomal dominant inheritance
OMIM:130650	NSD1	64324	HP:0000158	Macroglossia
OMIM:130650	NSD1	64324	HP:0000175	Cleft palate
OMIM:130650	NSD1	64324	HP:0000280	Coarse facial features
OMIM:130650	NSD1	64324	HP:0000028	Cryptorchidism
OMIM:130650	NSD1	64324	HP:0001638	Cardiomyopathy
OMIM:130650	NSD1	64324	HP:0000383	Abnormality of periauricular region
OMIM:130650	NSD1	64324	HP:0000154	Wide mouth
OMIM:130650	NSD1	64324	HP:0000520	Proptosis
OMIM:130650	NSD1	64324	HP:0003006	Neuroblastoma
OMIM:130650	NSD1	64324	HP:0000157	Abnormality of the tongue
OMIM:130650	NSD1	64324	HP:0009908	Anterior creases of earlobe
OMIM:130650	NSD1	64324	HP:0002240	Hepatomegaly
OMIM:130650	NSD1	64324	HP:0000272	Malar flattening
OMIM:130650	NSD1	64324	HP:0001539	Omphalocele
OMIM:130650	NSD1	64324	HP:0100589	Urogenital fistula
OMIM:130650	NSD1	64324	HP:0000821	Hypothyroidism
OMIM:130650	NSD1	64324	HP:0001744	Splenomegaly
OMIM:130650	NSD1	64324	HP:0000776	Congenital diaphragmatic hernia
OMIM:130650	NSD1	64324	HP:0000973	Cutis laxa
OMIM:130650	NSD1	64324	HP:0100242	Sarcoma
OMIM:130650	NSD1	64324	HP:0000239	Large fontanelles
OMIM:130650	NSD1	64324	HP:0001639	Hypertrophic cardiomyopathy
OMIM:130650	NSD1	64324	HP:0005616	Accelerated skeletal maturation
OMIM:130650	NSD1	64324	HP:0001640	Cardiomegaly
OMIM:130650	NSD1	64324	HP:0001537	Umbilical hernia
OMIM:130650	NSD1	64324	HP:0000098	Tall stature
OMIM:130650	NSD1	64324	HP:0000995	Melanocytic nevus
OMIM:130650	NSD1	64324	HP:0002167	Neurological speech impairment
OMIM:130650	NSD1	64324	HP:0001943	Hypoglycemia
OMIM:130650	NSD1	64324	HP:0000269	Prominent occiput
OMIM:130650	NSD1	64324	HP:0001548	Overgrowth
OMIM:130650	NSD1	64324	HP:0000112	Nephropathy
OMIM:130650	NSD1	64324	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:130650	NSD1	64324	HP:0001305	Dandy-Walker malformation
OMIM:130650	NSD1	64324	HP:0000598	Abnormality of the ear
OMIM:130650	NSD1	64324	HP:0002104	Apnea
OMIM:130650	NSD1	64324	HP:0011039	Abnormality of the helix
OMIM:130650	NSD1	64324	HP:0000113	Polycystic kidney dysplasia
OMIM:130650	NSD1	64324	HP:0000834	Abnormality of the adrenal glands
OMIM:130650	NSD1	64324	HP:0100555	Asymmetric growth
OMIM:130650	CDKN1C	1028	HP:0000150	Gonadoblastoma
OMIM:130650	CDKN1C	1028	HP:0000006	Autosomal dominant inheritance
OMIM:130650	CDKN1C	1028	HP:0000158	Macroglossia
OMIM:130650	CDKN1C	1028	HP:0000175	Cleft palate
OMIM:130650	CDKN1C	1028	HP:0000280	Coarse facial features
OMIM:130650	CDKN1C	1028	HP:0000028	Cryptorchidism
OMIM:130650	CDKN1C	1028	HP:0001638	Cardiomyopathy
OMIM:130650	CDKN1C	1028	HP:0000383	Abnormality of periauricular region
OMIM:130650	CDKN1C	1028	HP:0000154	Wide mouth
OMIM:130650	CDKN1C	1028	HP:0000520	Proptosis
OMIM:130650	CDKN1C	1028	HP:0003006	Neuroblastoma
OMIM:130650	CDKN1C	1028	HP:0000157	Abnormality of the tongue
OMIM:130650	CDKN1C	1028	HP:0009908	Anterior creases of earlobe
OMIM:130650	CDKN1C	1028	HP:0002240	Hepatomegaly
OMIM:130650	CDKN1C	1028	HP:0000272	Malar flattening
OMIM:130650	CDKN1C	1028	HP:0001539	Omphalocele
OMIM:130650	CDKN1C	1028	HP:0100589	Urogenital fistula
OMIM:130650	CDKN1C	1028	HP:0000821	Hypothyroidism
OMIM:130650	CDKN1C	1028	HP:0001744	Splenomegaly
OMIM:130650	CDKN1C	1028	HP:0000776	Congenital diaphragmatic hernia
OMIM:130650	CDKN1C	1028	HP:0000973	Cutis laxa
OMIM:130650	CDKN1C	1028	HP:0100242	Sarcoma
OMIM:130650	CDKN1C	1028	HP:0000239	Large fontanelles
OMIM:130650	CDKN1C	1028	HP:0001639	Hypertrophic cardiomyopathy
OMIM:130650	CDKN1C	1028	HP:0005616	Accelerated skeletal maturation
OMIM:130650	CDKN1C	1028	HP:0001640	Cardiomegaly
OMIM:130650	CDKN1C	1028	HP:0001537	Umbilical hernia
OMIM:130650	CDKN1C	1028	HP:0000098	Tall stature
OMIM:130650	CDKN1C	1028	HP:0000995	Melanocytic nevus
OMIM:130650	CDKN1C	1028	HP:0002167	Neurological speech impairment
OMIM:130650	CDKN1C	1028	HP:0001943	Hypoglycemia
OMIM:130650	CDKN1C	1028	HP:0000269	Prominent occiput
OMIM:130650	CDKN1C	1028	HP:0001548	Overgrowth
OMIM:130650	CDKN1C	1028	HP:0000112	Nephropathy
OMIM:130650	CDKN1C	1028	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:130650	CDKN1C	1028	HP:0001305	Dandy-Walker malformation
OMIM:130650	CDKN1C	1028	HP:0000598	Abnormality of the ear
OMIM:130650	CDKN1C	1028	HP:0002104	Apnea
OMIM:130650	CDKN1C	1028	HP:0011039	Abnormality of the helix
OMIM:130650	CDKN1C	1028	HP:0000113	Polycystic kidney dysplasia
OMIM:130650	CDKN1C	1028	HP:0000834	Abnormality of the adrenal glands
OMIM:130650	CDKN1C	1028	HP:0100555	Asymmetric growth
OMIM:130650	H19	283120	HP:0000150	Gonadoblastoma
OMIM:130650	H19	283120	HP:0000006	Autosomal dominant inheritance
OMIM:130650	H19	283120	HP:0000158	Macroglossia
OMIM:130650	H19	283120	HP:0000175	Cleft palate
OMIM:130650	H19	283120	HP:0000280	Coarse facial features
OMIM:130650	H19	283120	HP:0000028	Cryptorchidism
OMIM:130650	H19	283120	HP:0001638	Cardiomyopathy
OMIM:130650	H19	283120	HP:0000383	Abnormality of periauricular region
OMIM:130650	H19	283120	HP:0000154	Wide mouth
OMIM:130650	H19	283120	HP:0000520	Proptosis
OMIM:130650	H19	283120	HP:0003006	Neuroblastoma
OMIM:130650	H19	283120	HP:0000157	Abnormality of the tongue
OMIM:130650	H19	283120	HP:0009908	Anterior creases of earlobe
OMIM:130650	H19	283120	HP:0002240	Hepatomegaly
OMIM:130650	H19	283120	HP:0000272	Malar flattening
OMIM:130650	H19	283120	HP:0001539	Omphalocele
OMIM:130650	H19	283120	HP:0100589	Urogenital fistula
OMIM:130650	H19	283120	HP:0000821	Hypothyroidism
OMIM:130650	H19	283120	HP:0001744	Splenomegaly
OMIM:130650	H19	283120	HP:0000776	Congenital diaphragmatic hernia
OMIM:130650	H19	283120	HP:0000973	Cutis laxa
OMIM:130650	H19	283120	HP:0100242	Sarcoma
OMIM:130650	H19	283120	HP:0000239	Large fontanelles
OMIM:130650	H19	283120	HP:0001639	Hypertrophic cardiomyopathy
OMIM:130650	H19	283120	HP:0005616	Accelerated skeletal maturation
OMIM:130650	H19	283120	HP:0001640	Cardiomegaly
OMIM:130650	H19	283120	HP:0001537	Umbilical hernia
OMIM:130650	H19	283120	HP:0000098	Tall stature
OMIM:130650	H19	283120	HP:0000995	Melanocytic nevus
OMIM:130650	H19	283120	HP:0002167	Neurological speech impairment
OMIM:130650	H19	283120	HP:0001943	Hypoglycemia
OMIM:130650	H19	283120	HP:0000269	Prominent occiput
OMIM:130650	H19	283120	HP:0001548	Overgrowth
OMIM:130650	H19	283120	HP:0000112	Nephropathy
OMIM:130650	H19	283120	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:130650	H19	283120	HP:0001305	Dandy-Walker malformation
OMIM:130650	H19	283120	HP:0000598	Abnormality of the ear
OMIM:130650	H19	283120	HP:0002104	Apnea
OMIM:130650	H19	283120	HP:0011039	Abnormality of the helix
OMIM:130650	H19	283120	HP:0000113	Polycystic kidney dysplasia
OMIM:130650	H19	283120	HP:0000834	Abnormality of the adrenal glands
OMIM:130650	H19	283120	HP:0100555	Asymmetric growth
OMIM:130650	KCNQ1OT1	10984	HP:0000150	Gonadoblastoma
OMIM:130650	KCNQ1OT1	10984	HP:0000006	Autosomal dominant inheritance
OMIM:130650	KCNQ1OT1	10984	HP:0000158	Macroglossia
OMIM:130650	KCNQ1OT1	10984	HP:0000175	Cleft palate
OMIM:130650	KCNQ1OT1	10984	HP:0000280	Coarse facial features
OMIM:130650	KCNQ1OT1	10984	HP:0000028	Cryptorchidism
OMIM:130650	KCNQ1OT1	10984	HP:0001638	Cardiomyopathy
OMIM:130650	KCNQ1OT1	10984	HP:0000383	Abnormality of periauricular region
OMIM:130650	KCNQ1OT1	10984	HP:0000154	Wide mouth
OMIM:130650	KCNQ1OT1	10984	HP:0000520	Proptosis
OMIM:130650	KCNQ1OT1	10984	HP:0003006	Neuroblastoma
OMIM:130650	KCNQ1OT1	10984	HP:0000157	Abnormality of the tongue
OMIM:130650	KCNQ1OT1	10984	HP:0009908	Anterior creases of earlobe
OMIM:130650	KCNQ1OT1	10984	HP:0002240	Hepatomegaly
OMIM:130650	KCNQ1OT1	10984	HP:0000272	Malar flattening
OMIM:130650	KCNQ1OT1	10984	HP:0001539	Omphalocele
OMIM:130650	KCNQ1OT1	10984	HP:0100589	Urogenital fistula
OMIM:130650	KCNQ1OT1	10984	HP:0000821	Hypothyroidism
OMIM:130650	KCNQ1OT1	10984	HP:0001744	Splenomegaly
OMIM:130650	KCNQ1OT1	10984	HP:0000776	Congenital diaphragmatic hernia
OMIM:130650	KCNQ1OT1	10984	HP:0000973	Cutis laxa
OMIM:130650	KCNQ1OT1	10984	HP:0100242	Sarcoma
OMIM:130650	KCNQ1OT1	10984	HP:0000239	Large fontanelles
OMIM:130650	KCNQ1OT1	10984	HP:0001639	Hypertrophic cardiomyopathy
OMIM:130650	KCNQ1OT1	10984	HP:0005616	Accelerated skeletal maturation
OMIM:130650	KCNQ1OT1	10984	HP:0001640	Cardiomegaly
OMIM:130650	KCNQ1OT1	10984	HP:0001537	Umbilical hernia
OMIM:130650	KCNQ1OT1	10984	HP:0000098	Tall stature
OMIM:130650	KCNQ1OT1	10984	HP:0000995	Melanocytic nevus
OMIM:130650	KCNQ1OT1	10984	HP:0002167	Neurological speech impairment
OMIM:130650	KCNQ1OT1	10984	HP:0001943	Hypoglycemia
OMIM:130650	KCNQ1OT1	10984	HP:0000269	Prominent occiput
OMIM:130650	KCNQ1OT1	10984	HP:0001548	Overgrowth
OMIM:130650	KCNQ1OT1	10984	HP:0000112	Nephropathy
OMIM:130650	KCNQ1OT1	10984	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:130650	KCNQ1OT1	10984	HP:0001305	Dandy-Walker malformation
OMIM:130650	KCNQ1OT1	10984	HP:0000598	Abnormality of the ear
OMIM:130650	KCNQ1OT1	10984	HP:0002104	Apnea
OMIM:130650	KCNQ1OT1	10984	HP:0011039	Abnormality of the helix
OMIM:130650	KCNQ1OT1	10984	HP:0000113	Polycystic kidney dysplasia
OMIM:130650	KCNQ1OT1	10984	HP:0000834	Abnormality of the adrenal glands
OMIM:130650	KCNQ1OT1	10984	HP:0100555	Asymmetric growth
OMIM:130650	H19-ICR	105259599	HP:0000150	Gonadoblastoma
OMIM:130650	H19-ICR	105259599	HP:0000006	Autosomal dominant inheritance
OMIM:130650	H19-ICR	105259599	HP:0000158	Macroglossia
OMIM:130650	H19-ICR	105259599	HP:0000175	Cleft palate
OMIM:130650	H19-ICR	105259599	HP:0000280	Coarse facial features
OMIM:130650	H19-ICR	105259599	HP:0000028	Cryptorchidism
OMIM:130650	H19-ICR	105259599	HP:0001638	Cardiomyopathy
OMIM:130650	H19-ICR	105259599	HP:0000383	Abnormality of periauricular region
OMIM:130650	H19-ICR	105259599	HP:0000154	Wide mouth
OMIM:130650	H19-ICR	105259599	HP:0000520	Proptosis
OMIM:130650	H19-ICR	105259599	HP:0003006	Neuroblastoma
OMIM:130650	H19-ICR	105259599	HP:0000157	Abnormality of the tongue
OMIM:130650	H19-ICR	105259599	HP:0009908	Anterior creases of earlobe
OMIM:130650	H19-ICR	105259599	HP:0002240	Hepatomegaly
OMIM:130650	H19-ICR	105259599	HP:0000272	Malar flattening
OMIM:130650	H19-ICR	105259599	HP:0001539	Omphalocele
OMIM:130650	H19-ICR	105259599	HP:0100589	Urogenital fistula
OMIM:130650	H19-ICR	105259599	HP:0000821	Hypothyroidism
OMIM:130650	H19-ICR	105259599	HP:0001744	Splenomegaly
OMIM:130650	H19-ICR	105259599	HP:0000776	Congenital diaphragmatic hernia
OMIM:130650	H19-ICR	105259599	HP:0000973	Cutis laxa
OMIM:130650	H19-ICR	105259599	HP:0100242	Sarcoma
OMIM:130650	H19-ICR	105259599	HP:0000239	Large fontanelles
OMIM:130650	H19-ICR	105259599	HP:0001639	Hypertrophic cardiomyopathy
OMIM:130650	H19-ICR	105259599	HP:0005616	Accelerated skeletal maturation
OMIM:130650	H19-ICR	105259599	HP:0001640	Cardiomegaly
OMIM:130650	H19-ICR	105259599	HP:0001537	Umbilical hernia
OMIM:130650	H19-ICR	105259599	HP:0000098	Tall stature
OMIM:130650	H19-ICR	105259599	HP:0000995	Melanocytic nevus
OMIM:130650	H19-ICR	105259599	HP:0002167	Neurological speech impairment
OMIM:130650	H19-ICR	105259599	HP:0001943	Hypoglycemia
OMIM:130650	H19-ICR	105259599	HP:0000269	Prominent occiput
OMIM:130650	H19-ICR	105259599	HP:0001548	Overgrowth
OMIM:130650	H19-ICR	105259599	HP:0000112	Nephropathy
OMIM:130650	H19-ICR	105259599	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:130650	H19-ICR	105259599	HP:0001305	Dandy-Walker malformation
OMIM:130650	H19-ICR	105259599	HP:0000598	Abnormality of the ear
OMIM:130650	H19-ICR	105259599	HP:0002104	Apnea
OMIM:130650	H19-ICR	105259599	HP:0011039	Abnormality of the helix
OMIM:130650	H19-ICR	105259599	HP:0000113	Polycystic kidney dysplasia
OMIM:130650	H19-ICR	105259599	HP:0000834	Abnormality of the adrenal glands
OMIM:130650	H19-ICR	105259599	HP:0100555	Asymmetric growth
OMIM:300331	MPL	4352	HP:0001744	Splenomegaly
OMIM:300331	MPL	4352	HP:0001894	Thrombocytosis
OMIM:300331	MPL	4352	HP:0002240	Hepatomegaly
OMIM:300331	MPL	4352	HP:0001419	X-linked recessive inheritance
OMIM:300331	JAK2	3717	HP:0001744	Splenomegaly
OMIM:300331	JAK2	3717	HP:0001894	Thrombocytosis
OMIM:300331	JAK2	3717	HP:0002240	Hepatomegaly
OMIM:300331	JAK2	3717	HP:0001419	X-linked recessive inheritance
OMIM:300331	THPO	7066	HP:0001744	Splenomegaly
OMIM:300331	THPO	7066	HP:0001894	Thrombocytosis
OMIM:300331	THPO	7066	HP:0002240	Hepatomegaly
OMIM:300331	THPO	7066	HP:0001419	X-linked recessive inheritance
ORPHANET:65282	DSP	1832	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:65282	DSP	1832	HP:0000982	Palmoplantar keratoderma
ORPHANET:65282	DSP	1832	HP:0002224	Woolly hair
ORPHANET:65282	DSP	1832	HP:0001635	Congestive heart failure
OMIM:604563	SBF2	81846	HP:0001178	Ulnar claw
OMIM:604563	SBF2	81846	HP:0001761	Pes cavus
OMIM:604563	SBF2	81846	HP:0003383	Onion bulb formation
OMIM:604563	SBF2	81846	HP:0003621	Juvenile onset
OMIM:604563	SBF2	81846	HP:0000007	Autosomal recessive inheritance
OMIM:604563	SBF2	81846	HP:0002355	Difficulty walking
OMIM:604563	SBF2	81846	HP:0003431	Decreased motor nerve conduction velocity
OMIM:604563	SBF2	81846	HP:0009027	Foot dorsiflexor weakness
OMIM:604563	SBF2	81846	HP:0002460	Distal muscle weakness
OMIM:604563	SBF2	81846	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:604563	SBF2	81846	HP:0003693	Distal amyotrophy
OMIM:604563	SBF2	81846	HP:0001765	Hammertoe
OMIM:604563	SBF2	81846	HP:0002936	Distal sensory impairment
OMIM:604563	SBF2	81846	HP:0003376	Steppage gait
OMIM:604563	SBF2	81846	HP:0001284	Areflexia
OMIM:604563	SBF2	81846	HP:0002751	Kyphoscoliosis
OMIM:604563	SBF2	81846	HP:0001762	Talipes equinovarus
OMIM:604563	SBF2	81846	HP:0000501	Glaucoma
OMIM:604563	SBF2	81846	HP:0001265	Hyporeflexia
OMIM:604563	SBF2	81846	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:604563	SBF2	81846	HP:0000407	Sensorineural hearing impairment
OMIM:601386	MSRB3	253827	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	MSRB3	253827	HP:0000478	Abnormality of the eye
OMIM:601386	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:601386	BSND	7809	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	BSND	7809	HP:0000478	Abnormality of the eye
OMIM:601386	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:601386	ESPN	83715	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	ESPN	83715	HP:0000478	Abnormality of the eye
OMIM:601386	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:601386	DFNB31	25861	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	DFNB31	25861	HP:0000478	Abnormality of the eye
OMIM:601386	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:601386	OTOA	146183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	OTOA	146183	HP:0000478	Abnormality of the eye
OMIM:601386	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:601386	GJA1	2697	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	GJA1	2697	HP:0000478	Abnormality of the eye
OMIM:601386	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:601386	MET	4233	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	MET	4233	HP:0000478	Abnormality of the eye
OMIM:601386	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:601386	CLDN14	23562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	CLDN14	23562	HP:0000478	Abnormality of the eye
OMIM:601386	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:601386	HGF	3082	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	HGF	3082	HP:0000478	Abnormality of the eye
OMIM:601386	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:601386	PNPT1	87178	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	PNPT1	87178	HP:0000478	Abnormality of the eye
OMIM:601386	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:601386	EPS8	2059	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	EPS8	2059	HP:0000478	Abnormality of the eye
OMIM:601386	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:601386	MYO3A	53904	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	MYO3A	53904	HP:0000478	Abnormality of the eye
OMIM:601386	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:601386	DCDC2	51473	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	DCDC2	51473	HP:0000478	Abnormality of the eye
OMIM:601386	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:601386	GJB2	2706	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	GJB2	2706	HP:0000478	Abnormality of the eye
OMIM:601386	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:601386	GJB3	2707	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	GJB3	2707	HP:0000478	Abnormality of the eye
OMIM:601386	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:601386	CABP2	51475	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	CABP2	51475	HP:0000478	Abnormality of the eye
OMIM:601386	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:601386	GRXCR2	643226	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	GRXCR2	643226	HP:0000478	Abnormality of the eye
OMIM:601386	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:601386	SERPINB6	5269	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	SERPINB6	5269	HP:0000478	Abnormality of the eye
OMIM:601386	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:601386	COL11A2	1302	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	COL11A2	1302	HP:0000478	Abnormality of the eye
OMIM:601386	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:601386	CIB2	10518	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	CIB2	10518	HP:0000478	Abnormality of the eye
OMIM:601386	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:601386	FAM65B	9750	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	FAM65B	9750	HP:0000478	Abnormality of the eye
OMIM:601386	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:601386	KARS	3735	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	KARS	3735	HP:0000478	Abnormality of the eye
OMIM:601386	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:601386	LOXHD1	125336	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	LOXHD1	125336	HP:0000478	Abnormality of the eye
OMIM:601386	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:601386	TMC1	117531	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	TMC1	117531	HP:0000478	Abnormality of the eye
OMIM:601386	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:601386	CLIC5	53405	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	CLIC5	53405	HP:0000478	Abnormality of the eye
OMIM:601386	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:601386	OTOF	9381	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	OTOF	9381	HP:0000478	Abnormality of the eye
OMIM:601386	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:601386	MYO6	4646	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	MYO6	4646	HP:0000478	Abnormality of the eye
OMIM:601386	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:601386	TMIE	259236	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	TMIE	259236	HP:0000478	Abnormality of the eye
OMIM:601386	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:601386	MYO7A	4647	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	MYO7A	4647	HP:0000478	Abnormality of the eye
OMIM:601386	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:601386	LRTOMT	220074	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	LRTOMT	220074	HP:0000478	Abnormality of the eye
OMIM:601386	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:601386	OTOGL	283310	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	OTOGL	283310	HP:0000478	Abnormality of the eye
OMIM:601386	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:601386	TPRN	286262	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	TPRN	286262	HP:0000478	Abnormality of the eye
OMIM:601386	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:601386	SLC26A4	5172	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	SLC26A4	5172	HP:0000478	Abnormality of the eye
OMIM:601386	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:601386	GJB6	10804	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	GJB6	10804	HP:0000478	Abnormality of the eye
OMIM:601386	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:601386	DFNB59	494513	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	DFNB59	494513	HP:0000478	Abnormality of the eye
OMIM:601386	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:601386	ESRRB	2103	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	ESRRB	2103	HP:0000478	Abnormality of the eye
OMIM:601386	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:601386	TMPRSS3	64699	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	TMPRSS3	64699	HP:0000478	Abnormality of the eye
OMIM:601386	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:601386	PTPRQ	374462	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	PTPRQ	374462	HP:0000478	Abnormality of the eye
OMIM:601386	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:601386	SLC26A5	375611	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	SLC26A5	375611	HP:0000478	Abnormality of the eye
OMIM:601386	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:601386	PCDH15	65217	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	PCDH15	65217	HP:0000478	Abnormality of the eye
OMIM:601386	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:601386	TSPEAR	54084	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	TSPEAR	54084	HP:0000478	Abnormality of the eye
OMIM:601386	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:601386	LHFPL5	222662	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	LHFPL5	222662	HP:0000478	Abnormality of the eye
OMIM:601386	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:601386	TRIOBP	11078	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	TRIOBP	11078	HP:0000478	Abnormality of the eye
OMIM:601386	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:601386	CDH23	64072	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	CDH23	64072	HP:0000478	Abnormality of the eye
OMIM:601386	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:601386	RDX	5962	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	RDX	5962	HP:0000478	Abnormality of the eye
OMIM:601386	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:601386	GPSM2	29899	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	GPSM2	29899	HP:0000478	Abnormality of the eye
OMIM:601386	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:601386	ELMOD3	84173	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	ELMOD3	84173	HP:0000478	Abnormality of the eye
OMIM:601386	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:601386	ILDR1	286676	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	ILDR1	286676	HP:0000478	Abnormality of the eye
OMIM:601386	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:601386	GRXCR1	389207	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	GRXCR1	389207	HP:0000478	Abnormality of the eye
OMIM:601386	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:601386	MARVELD2	153562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	MARVELD2	153562	HP:0000478	Abnormality of the eye
OMIM:601386	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:601386	STRC	161497	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	STRC	161497	HP:0000478	Abnormality of the eye
OMIM:601386	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:601386	SLITRK6	84189	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	SLITRK6	84189	HP:0000478	Abnormality of the eye
OMIM:601386	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:601386	TECTA	7007	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	TECTA	7007	HP:0000478	Abnormality of the eye
OMIM:601386	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:601386	MYO15A	51168	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	MYO15A	51168	HP:0000478	Abnormality of the eye
OMIM:601386	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:601386	USH1C	10083	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	USH1C	10083	HP:0000478	Abnormality of the eye
OMIM:601386	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:601386	ADCY1	107	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	ADCY1	107	HP:0000478	Abnormality of the eye
OMIM:601386	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:601386	SYNE4	163183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	SYNE4	163183	HP:0000478	Abnormality of the eye
OMIM:601386	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:601386	GIPC3	126326	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	GIPC3	126326	HP:0000478	Abnormality of the eye
OMIM:601386	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:601386	TBC1D24	57465	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	TBC1D24	57465	HP:0000478	Abnormality of the eye
OMIM:601386	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:601386	OTOG	340990	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:601386	OTOG	340990	HP:0000478	Abnormality of the eye
OMIM:601386	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:608389	EYA1	2138	HP:0000006	Autosomal dominant inheritance
OMIM:608389	EYA1	2138	HP:0004467	Preauricular pit
OMIM:608389	EYA1	2138	HP:0000407	Sensorineural hearing impairment
OMIM:608389	EYA1	2138	HP:0000384	Preauricular skin tag
OMIM:608389	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:608389	SIX1	6495	HP:0004467	Preauricular pit
OMIM:608389	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:608389	SIX1	6495	HP:0000384	Preauricular skin tag
OMIM:256500	SPINK5	11005	HP:0000007	Autosomal recessive inheritance
OMIM:256500	SPINK5	11005	HP:0001025	Urticaria
OMIM:256500	SPINK5	11005	HP:0000956	Acanthosis nigricans
OMIM:256500	SPINK5	11005	HP:0002205	Recurrent respiratory infections
OMIM:256500	SPINK5	11005	HP:0011473	Villous atrophy
OMIM:256500	SPINK5	11005	HP:0001944	Dehydration
OMIM:256500	SPINK5	11005	HP:0002209	Sparse scalp hair
OMIM:256500	SPINK5	11005	HP:0001263	Global developmental delay
OMIM:256500	SPINK5	11005	HP:0100543	Cognitive impairment
OMIM:256500	SPINK5	11005	HP:0000964	Eczema
OMIM:256500	SPINK5	11005	HP:0002099	Asthma
OMIM:256500	SPINK5	11005	HP:0001250	Seizures
OMIM:256500	SPINK5	11005	HP:0003011	Abnormality of the musculature
OMIM:256500	SPINK5	11005	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:256500	SPINK5	11005	HP:0000535	Sparse eyebrow
OMIM:256500	SPINK5	11005	HP:0001508	Failure to thrive
OMIM:256500	SPINK5	11005	HP:0004322	Short stature
OMIM:256500	SPINK5	11005	HP:0011362	Abnormal hair quantity
OMIM:256500	SPINK5	11005	HP:0100542	Abnormal localization of kidney
OMIM:256500	SPINK5	11005	HP:0002299	Brittle hair
OMIM:256500	SPINK5	11005	HP:0000988	Skin rash
OMIM:256500	SPINK5	11005	HP:0007400	Irregular hyperpigmentation
OMIM:256500	SPINK5	11005	HP:0002024	Malabsorption
OMIM:256500	SPINK5	11005	HP:0000958	Dry skin
OMIM:256500	SPINK5	11005	HP:0002213	Fine hair
OMIM:256500	SPINK5	11005	HP:0003355	Aminoaciduria
OMIM:256500	SPINK5	11005	HP:0002097	Emphysema
OMIM:256500	SPINK5	11005	HP:0001019	Erythroderma
OMIM:256500	SPINK5	11005	HP:0004313	Decreased antibody level in blood
OMIM:256500	SPINK5	11005	HP:0002719	Recurrent infections
OMIM:614225	RAB3GAP1	22930	HP:0010864	Intellectual disability, severe
OMIM:614225	RAB3GAP1	22930	HP:0005484	Postnatal microcephaly
OMIM:614225	RAB3GAP1	22930	HP:0000482	Microcornea
OMIM:614225	RAB3GAP1	22930	HP:0002126	Polymicrogyria
OMIM:614225	RAB3GAP1	22930	HP:0000568	Microphthalmia
OMIM:614225	RAB3GAP1	22930	HP:0000054	Micropenis
OMIM:614225	RAB3GAP1	22930	HP:0003196	Short nose
OMIM:614225	RAB3GAP1	22930	HP:0000294	Low anterior hairline
OMIM:614225	RAB3GAP1	22930	HP:0001371	Flexion contracture
OMIM:614225	RAB3GAP1	22930	HP:0000519	Congenital cataract
OMIM:614225	RAB3GAP1	22930	HP:0000518	Cataract
OMIM:614225	RAB3GAP1	22930	HP:0000426	Prominent nasal bridge
OMIM:614225	RAB3GAP1	22930	HP:0000046	Scrotal hypoplasia
OMIM:614225	RAB3GAP1	22930	HP:0001845	Overlapping toe
OMIM:614225	RAB3GAP1	22930	HP:0008897	Postnatal growth retardation
OMIM:614225	RAB3GAP1	22930	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614225	RAB3GAP1	22930	HP:0011344	Severe global developmental delay
OMIM:614225	RAB3GAP1	22930	HP:0000252	Microcephaly
OMIM:614225	RAB3GAP1	22930	HP:0000028	Cryptorchidism
OMIM:614225	RAB3GAP1	22930	HP:0008936	Muscular hypotonia of the trunk
OMIM:614225	RAB3GAP1	22930	HP:0000248	Brachycephaly
OMIM:614225	RAB3GAP1	22930	HP:0000648	Optic atrophy
OMIM:614225	RAB3GAP1	22930	HP:0000400	Macrotia
OMIM:614225	RAB3GAP1	22930	HP:0000007	Autosomal recessive inheritance
OMIM:614225	RAB18	22931	HP:0010864	Intellectual disability, severe
OMIM:614225	RAB18	22931	HP:0005484	Postnatal microcephaly
OMIM:614225	RAB18	22931	HP:0000482	Microcornea
OMIM:614225	RAB18	22931	HP:0002126	Polymicrogyria
OMIM:614225	RAB18	22931	HP:0000568	Microphthalmia
OMIM:614225	RAB18	22931	HP:0000054	Micropenis
OMIM:614225	RAB18	22931	HP:0003196	Short nose
OMIM:614225	RAB18	22931	HP:0000294	Low anterior hairline
OMIM:614225	RAB18	22931	HP:0001371	Flexion contracture
OMIM:614225	RAB18	22931	HP:0000519	Congenital cataract
OMIM:614225	RAB18	22931	HP:0000518	Cataract
OMIM:614225	RAB18	22931	HP:0000426	Prominent nasal bridge
OMIM:614225	RAB18	22931	HP:0000046	Scrotal hypoplasia
OMIM:614225	RAB18	22931	HP:0001845	Overlapping toe
OMIM:614225	RAB18	22931	HP:0008897	Postnatal growth retardation
OMIM:614225	RAB18	22931	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614225	RAB18	22931	HP:0011344	Severe global developmental delay
OMIM:614225	RAB18	22931	HP:0000252	Microcephaly
OMIM:614225	RAB18	22931	HP:0000028	Cryptorchidism
OMIM:614225	RAB18	22931	HP:0008936	Muscular hypotonia of the trunk
OMIM:614225	RAB18	22931	HP:0000248	Brachycephaly
OMIM:614225	RAB18	22931	HP:0000648	Optic atrophy
OMIM:614225	RAB18	22931	HP:0000400	Macrotia
OMIM:614225	RAB18	22931	HP:0000007	Autosomal recessive inheritance
OMIM:614225	RAB3GAP2	25782	HP:0010864	Intellectual disability, severe
OMIM:614225	RAB3GAP2	25782	HP:0005484	Postnatal microcephaly
OMIM:614225	RAB3GAP2	25782	HP:0000482	Microcornea
OMIM:614225	RAB3GAP2	25782	HP:0002126	Polymicrogyria
OMIM:614225	RAB3GAP2	25782	HP:0000568	Microphthalmia
OMIM:614225	RAB3GAP2	25782	HP:0000054	Micropenis
OMIM:614225	RAB3GAP2	25782	HP:0003196	Short nose
OMIM:614225	RAB3GAP2	25782	HP:0000294	Low anterior hairline
OMIM:614225	RAB3GAP2	25782	HP:0001371	Flexion contracture
OMIM:614225	RAB3GAP2	25782	HP:0000519	Congenital cataract
OMIM:614225	RAB3GAP2	25782	HP:0000518	Cataract
OMIM:614225	RAB3GAP2	25782	HP:0000426	Prominent nasal bridge
OMIM:614225	RAB3GAP2	25782	HP:0000046	Scrotal hypoplasia
OMIM:614225	RAB3GAP2	25782	HP:0001845	Overlapping toe
OMIM:614225	RAB3GAP2	25782	HP:0008897	Postnatal growth retardation
OMIM:614225	RAB3GAP2	25782	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614225	RAB3GAP2	25782	HP:0011344	Severe global developmental delay
OMIM:614225	RAB3GAP2	25782	HP:0000252	Microcephaly
OMIM:614225	RAB3GAP2	25782	HP:0000028	Cryptorchidism
OMIM:614225	RAB3GAP2	25782	HP:0008936	Muscular hypotonia of the trunk
OMIM:614225	RAB3GAP2	25782	HP:0000248	Brachycephaly
OMIM:614225	RAB3GAP2	25782	HP:0000648	Optic atrophy
OMIM:614225	RAB3GAP2	25782	HP:0000400	Macrotia
OMIM:614225	RAB3GAP2	25782	HP:0000007	Autosomal recessive inheritance
OMIM:614225	TBC1D20	128637	HP:0010864	Intellectual disability, severe
OMIM:614225	TBC1D20	128637	HP:0005484	Postnatal microcephaly
OMIM:614225	TBC1D20	128637	HP:0000482	Microcornea
OMIM:614225	TBC1D20	128637	HP:0002126	Polymicrogyria
OMIM:614225	TBC1D20	128637	HP:0000568	Microphthalmia
OMIM:614225	TBC1D20	128637	HP:0000054	Micropenis
OMIM:614225	TBC1D20	128637	HP:0003196	Short nose
OMIM:614225	TBC1D20	128637	HP:0000294	Low anterior hairline
OMIM:614225	TBC1D20	128637	HP:0001371	Flexion contracture
OMIM:614225	TBC1D20	128637	HP:0000519	Congenital cataract
OMIM:614225	TBC1D20	128637	HP:0000518	Cataract
OMIM:614225	TBC1D20	128637	HP:0000426	Prominent nasal bridge
OMIM:614225	TBC1D20	128637	HP:0000046	Scrotal hypoplasia
OMIM:614225	TBC1D20	128637	HP:0001845	Overlapping toe
OMIM:614225	TBC1D20	128637	HP:0008897	Postnatal growth retardation
OMIM:614225	TBC1D20	128637	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614225	TBC1D20	128637	HP:0011344	Severe global developmental delay
OMIM:614225	TBC1D20	128637	HP:0000252	Microcephaly
OMIM:614225	TBC1D20	128637	HP:0000028	Cryptorchidism
OMIM:614225	TBC1D20	128637	HP:0008936	Muscular hypotonia of the trunk
OMIM:614225	TBC1D20	128637	HP:0000248	Brachycephaly
OMIM:614225	TBC1D20	128637	HP:0000648	Optic atrophy
OMIM:614225	TBC1D20	128637	HP:0000400	Macrotia
OMIM:614225	TBC1D20	128637	HP:0000007	Autosomal recessive inheritance
OMIM:270450	IGF1R	3480	HP:0000252	Microcephaly
OMIM:270450	IGF1R	3480	HP:0004322	Short stature
OMIM:270450	IGF1R	3480	HP:0000006	Autosomal dominant inheritance
OMIM:270450	IGF1R	3480	HP:0000767	Pectus excavatum
OMIM:270450	IGF1R	3480	HP:0003577	Congenital onset
OMIM:270450	IGF1R	3480	HP:0004325	Decreased body weight
OMIM:270450	IGF1R	3480	HP:0030269	Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}
OMIM:270450	IGF1R	3480	HP:0100543	Cognitive impairment
OMIM:270450	IGF1R	3480	HP:0000319	Smooth philtrum
OMIM:270450	IGF1R	3480	HP:0000007	Autosomal recessive inheritance
OMIM:270450	IGF1R	3480	HP:0000431	Wide nasal bridge
OMIM:270450	IGF1R	3480	HP:0001511	Intrauterine growth retardation
OMIM:270450	IGF1R	3480	HP:0000739	Anxiety
OMIM:270450	IGF1R	3480	HP:0001547	Abnormality of the rib cage
OMIM:270450	IGF1R	3480	HP:0001270	Motor delay
OMIM:270450	IGF1R	3480	HP:0004404	Abnormality of the nipple
OMIM:270450	IGF1R	3480	HP:0000219	Thin upper lip vermilion
OMIM:270450	IGF1R	3480	HP:0000750	Delayed speech and language development
OMIM:270450	IGF1R	3480	HP:0001999	Abnormal facial shape
OMIM:270450	IGF1R	3480	HP:0001156	Brachydactyly syndrome
OMIM:270450	IGF1R	3480	HP:0030084	Clinodactyly
OMIM:270450	IGF1R	3480	HP:0000232	Everted lower lip vermilion
OMIM:270450	IGF1R	3480	HP:0002750	Delayed skeletal maturation
OMIM:270450	IGF1R	3480	HP:0009466	Radial deviation of finger
OMIM:270450	IGF1R	3480	HP:0000343	Long philtrum
OMIM:270450	IGF1R	3480	HP:0000713	Agitation
OMIM:270450	IGF1R	3480	HP:0000233	Thin vermilion border
ORPHANET:567	COMT	1312	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:567	COMT	1312	HP:0000365	Hearing impairment
ORPHANET:567	COMT	1312	HP:0002414	Spina bifida
ORPHANET:567	COMT	1312	HP:0001080	Biliary tract abnormality
ORPHANET:567	COMT	1312	HP:0000470	Short neck
ORPHANET:567	COMT	1312	HP:0000202	Oral cleft
ORPHANET:567	COMT	1312	HP:0000276	Long face
ORPHANET:567	COMT	1312	HP:0001161	Hand polydactyly
ORPHANET:567	COMT	1312	HP:0100735	Hypertensive crisis
ORPHANET:567	COMT	1312	HP:0001051	Seborrheic dermatitis
ORPHANET:567	COMT	1312	HP:0001252	Muscular hypotonia
ORPHANET:567	COMT	1312	HP:0005105	Abnormal nasal morphology
ORPHANET:567	COMT	1312	HP:0000829	Hypoparathyroidism
ORPHANET:567	COMT	1312	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:567	COMT	1312	HP:0000494	Downslanted palpebral fissures
ORPHANET:567	COMT	1312	HP:0001369	Arthritis
ORPHANET:567	COMT	1312	HP:0000347	Micrognathia
ORPHANET:567	COMT	1312	HP:0001631	Atria septal defect
ORPHANET:567	COMT	1312	HP:0001646	Abnormality of the aortic valve
ORPHANET:567	COMT	1312	HP:0002019	Constipation
ORPHANET:567	COMT	1312	HP:0000396	Overfolded helix
ORPHANET:567	COMT	1312	HP:0000518	Cataract
ORPHANET:567	COMT	1312	HP:0001250	Seizures
ORPHANET:567	COMT	1312	HP:0000670	Carious teeth
ORPHANET:567	COMT	1312	HP:0000008	Abnormality of female internal genitalia
ORPHANET:567	COMT	1312	HP:0000486	Strabismus
ORPHANET:567	COMT	1312	HP:0002251	Aganglionic megacolon
ORPHANET:567	COMT	1312	HP:0000600	Abnormality of the pharynx
ORPHANET:567	COMT	1312	HP:0100543	Cognitive impairment
ORPHANET:567	COMT	1312	HP:0000717	Autism
ORPHANET:567	COMT	1312	HP:0001537	Umbilical hernia
ORPHANET:567	COMT	1312	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:567	COMT	1312	HP:0002901	Hypocalcemia
ORPHANET:567	COMT	1312	HP:0001829	Foot polydactyly
ORPHANET:567	COMT	1312	HP:0000426	Prominent nasal bridge
ORPHANET:567	COMT	1312	HP:0100750	Atelectasis
ORPHANET:567	COMT	1312	HP:0001629	Ventricular septal defect
ORPHANET:567	COMT	1312	HP:0008872	Feeding difficulties in infancy
ORPHANET:567	COMT	1312	HP:0000113	Polycystic kidney dysplasia
ORPHANET:567	COMT	1312	HP:0001061	Acne
ORPHANET:567	COMT	1312	HP:0002999	Patellar dislocation
ORPHANET:567	COMT	1312	HP:0001511	Intrauterine growth retardation
ORPHANET:567	COMT	1312	HP:0002566	Intestinal malrotation
ORPHANET:567	COMT	1312	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:567	COMT	1312	HP:0000388	Otitis media
ORPHANET:567	COMT	1312	HP:0001636	Tetralogy of Fallot
ORPHANET:567	COMT	1312	HP:0001679	Abnormality of the aorta
ORPHANET:567	COMT	1312	HP:0001608	Abnormality of the voice
ORPHANET:567	COMT	1312	HP:0000506	Telecanthus
ORPHANET:567	COMT	1312	HP:0100589	Urogenital fistula
ORPHANET:567	COMT	1312	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:567	COMT	1312	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:567	COMT	1312	HP:0000508	Ptosis
ORPHANET:567	COMT	1312	HP:0001744	Splenomegaly
ORPHANET:567	COMT	1312	HP:0000003	Multicystic kidney dysplasia
ORPHANET:567	COMT	1312	HP:0001933	Subcutaneous hemorrhage
ORPHANET:567	COMT	1312	HP:0100627	Displacement of the external urethral meatus
ORPHANET:567	COMT	1312	HP:0001363	Craniosynostosis
ORPHANET:567	COMT	1312	HP:0002607	Bowel incontinence
ORPHANET:567	COMT	1312	HP:0000582	Upslanted palpebral fissure
ORPHANET:567	COMT	1312	HP:0002167	Neurological speech impairment
ORPHANET:567	COMT	1312	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:567	COMT	1312	HP:0000076	Vesicoureteral reflux
ORPHANET:567	COMT	1312	HP:0001873	Thrombocytopenia
ORPHANET:567	COMT	1312	HP:0001660	Truncus arteriosus
ORPHANET:567	COMT	1312	HP:0000028	Cryptorchidism
ORPHANET:567	COMT	1312	HP:0000836	Hyperthyroidism
ORPHANET:567	COMT	1312	HP:0000648	Optic atrophy
ORPHANET:567	COMT	1312	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:567	COMT	1312	HP:0005293	Venous insufficiency
ORPHANET:567	COMT	1312	HP:0002099	Asthma
ORPHANET:567	COMT	1312	HP:0001360	Holoprosencephaly
ORPHANET:567	COMT	1312	HP:0000286	Epicanthus
ORPHANET:567	COMT	1312	HP:0000682	Abnormality of dental enamel
ORPHANET:567	COMT	1312	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:567	COMT	1312	HP:0000252	Microcephaly
ORPHANET:567	COMT	1312	HP:0002960	Autoimmunity
ORPHANET:567	COMT	1312	HP:0001643	Patent ductus arteriosus
ORPHANET:567	COMT	1312	HP:0000316	Hypertelorism
ORPHANET:567	COMT	1312	HP:0000765	Abnormality of the thorax
ORPHANET:567	COMT	1312	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:567	COMT	1312	HP:0000821	Hypothyroidism
ORPHANET:567	COMT	1312	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:567	TBX1	6899	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:567	TBX1	6899	HP:0000365	Hearing impairment
ORPHANET:567	TBX1	6899	HP:0002414	Spina bifida
ORPHANET:567	TBX1	6899	HP:0001080	Biliary tract abnormality
ORPHANET:567	TBX1	6899	HP:0000470	Short neck
ORPHANET:567	TBX1	6899	HP:0000202	Oral cleft
ORPHANET:567	TBX1	6899	HP:0000276	Long face
ORPHANET:567	TBX1	6899	HP:0001161	Hand polydactyly
ORPHANET:567	TBX1	6899	HP:0100735	Hypertensive crisis
ORPHANET:567	TBX1	6899	HP:0001051	Seborrheic dermatitis
ORPHANET:567	TBX1	6899	HP:0001252	Muscular hypotonia
ORPHANET:567	TBX1	6899	HP:0005105	Abnormal nasal morphology
ORPHANET:567	TBX1	6899	HP:0000829	Hypoparathyroidism
ORPHANET:567	TBX1	6899	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:567	TBX1	6899	HP:0000494	Downslanted palpebral fissures
ORPHANET:567	TBX1	6899	HP:0001369	Arthritis
ORPHANET:567	TBX1	6899	HP:0000347	Micrognathia
ORPHANET:567	TBX1	6899	HP:0001631	Atria septal defect
ORPHANET:567	TBX1	6899	HP:0001646	Abnormality of the aortic valve
ORPHANET:567	TBX1	6899	HP:0002019	Constipation
ORPHANET:567	TBX1	6899	HP:0000396	Overfolded helix
ORPHANET:567	TBX1	6899	HP:0000518	Cataract
ORPHANET:567	TBX1	6899	HP:0001250	Seizures
ORPHANET:567	TBX1	6899	HP:0000670	Carious teeth
ORPHANET:567	TBX1	6899	HP:0000008	Abnormality of female internal genitalia
ORPHANET:567	TBX1	6899	HP:0000486	Strabismus
ORPHANET:567	TBX1	6899	HP:0002251	Aganglionic megacolon
ORPHANET:567	TBX1	6899	HP:0000600	Abnormality of the pharynx
ORPHANET:567	TBX1	6899	HP:0100543	Cognitive impairment
ORPHANET:567	TBX1	6899	HP:0000717	Autism
ORPHANET:567	TBX1	6899	HP:0001537	Umbilical hernia
ORPHANET:567	TBX1	6899	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:567	TBX1	6899	HP:0002901	Hypocalcemia
ORPHANET:567	TBX1	6899	HP:0001829	Foot polydactyly
ORPHANET:567	TBX1	6899	HP:0000426	Prominent nasal bridge
ORPHANET:567	TBX1	6899	HP:0100750	Atelectasis
ORPHANET:567	TBX1	6899	HP:0001629	Ventricular septal defect
ORPHANET:567	TBX1	6899	HP:0008872	Feeding difficulties in infancy
ORPHANET:567	TBX1	6899	HP:0000113	Polycystic kidney dysplasia
ORPHANET:567	TBX1	6899	HP:0001061	Acne
ORPHANET:567	TBX1	6899	HP:0002999	Patellar dislocation
ORPHANET:567	TBX1	6899	HP:0001511	Intrauterine growth retardation
ORPHANET:567	TBX1	6899	HP:0002566	Intestinal malrotation
ORPHANET:567	TBX1	6899	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:567	TBX1	6899	HP:0000388	Otitis media
ORPHANET:567	TBX1	6899	HP:0001636	Tetralogy of Fallot
ORPHANET:567	TBX1	6899	HP:0001679	Abnormality of the aorta
ORPHANET:567	TBX1	6899	HP:0001608	Abnormality of the voice
ORPHANET:567	TBX1	6899	HP:0000506	Telecanthus
ORPHANET:567	TBX1	6899	HP:0100589	Urogenital fistula
ORPHANET:567	TBX1	6899	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:567	TBX1	6899	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:567	TBX1	6899	HP:0000508	Ptosis
ORPHANET:567	TBX1	6899	HP:0001744	Splenomegaly
ORPHANET:567	TBX1	6899	HP:0000003	Multicystic kidney dysplasia
ORPHANET:567	TBX1	6899	HP:0001933	Subcutaneous hemorrhage
ORPHANET:567	TBX1	6899	HP:0100627	Displacement of the external urethral meatus
ORPHANET:567	TBX1	6899	HP:0001363	Craniosynostosis
ORPHANET:567	TBX1	6899	HP:0002607	Bowel incontinence
ORPHANET:567	TBX1	6899	HP:0000582	Upslanted palpebral fissure
ORPHANET:567	TBX1	6899	HP:0002167	Neurological speech impairment
ORPHANET:567	TBX1	6899	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:567	TBX1	6899	HP:0000076	Vesicoureteral reflux
ORPHANET:567	TBX1	6899	HP:0001873	Thrombocytopenia
ORPHANET:567	TBX1	6899	HP:0001660	Truncus arteriosus
ORPHANET:567	TBX1	6899	HP:0000028	Cryptorchidism
ORPHANET:567	TBX1	6899	HP:0000836	Hyperthyroidism
ORPHANET:567	TBX1	6899	HP:0000648	Optic atrophy
ORPHANET:567	TBX1	6899	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:567	TBX1	6899	HP:0005293	Venous insufficiency
ORPHANET:567	TBX1	6899	HP:0002099	Asthma
ORPHANET:567	TBX1	6899	HP:0001360	Holoprosencephaly
ORPHANET:567	TBX1	6899	HP:0000286	Epicanthus
ORPHANET:567	TBX1	6899	HP:0000682	Abnormality of dental enamel
ORPHANET:567	TBX1	6899	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:567	TBX1	6899	HP:0000252	Microcephaly
ORPHANET:567	TBX1	6899	HP:0002960	Autoimmunity
ORPHANET:567	TBX1	6899	HP:0001643	Patent ductus arteriosus
ORPHANET:567	TBX1	6899	HP:0000316	Hypertelorism
ORPHANET:567	TBX1	6899	HP:0000765	Abnormality of the thorax
ORPHANET:567	TBX1	6899	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:567	TBX1	6899	HP:0000821	Hypothyroidism
ORPHANET:567	TBX1	6899	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:567	ARVCF	421	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:567	ARVCF	421	HP:0000365	Hearing impairment
ORPHANET:567	ARVCF	421	HP:0002414	Spina bifida
ORPHANET:567	ARVCF	421	HP:0001080	Biliary tract abnormality
ORPHANET:567	ARVCF	421	HP:0000470	Short neck
ORPHANET:567	ARVCF	421	HP:0000202	Oral cleft
ORPHANET:567	ARVCF	421	HP:0000276	Long face
ORPHANET:567	ARVCF	421	HP:0001161	Hand polydactyly
ORPHANET:567	ARVCF	421	HP:0100735	Hypertensive crisis
ORPHANET:567	ARVCF	421	HP:0001051	Seborrheic dermatitis
ORPHANET:567	ARVCF	421	HP:0001252	Muscular hypotonia
ORPHANET:567	ARVCF	421	HP:0005105	Abnormal nasal morphology
ORPHANET:567	ARVCF	421	HP:0000829	Hypoparathyroidism
ORPHANET:567	ARVCF	421	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:567	ARVCF	421	HP:0000494	Downslanted palpebral fissures
ORPHANET:567	ARVCF	421	HP:0001369	Arthritis
ORPHANET:567	ARVCF	421	HP:0000347	Micrognathia
ORPHANET:567	ARVCF	421	HP:0001631	Atria septal defect
ORPHANET:567	ARVCF	421	HP:0001646	Abnormality of the aortic valve
ORPHANET:567	ARVCF	421	HP:0002019	Constipation
ORPHANET:567	ARVCF	421	HP:0000396	Overfolded helix
ORPHANET:567	ARVCF	421	HP:0000518	Cataract
ORPHANET:567	ARVCF	421	HP:0001250	Seizures
ORPHANET:567	ARVCF	421	HP:0000670	Carious teeth
ORPHANET:567	ARVCF	421	HP:0000008	Abnormality of female internal genitalia
ORPHANET:567	ARVCF	421	HP:0000486	Strabismus
ORPHANET:567	ARVCF	421	HP:0002251	Aganglionic megacolon
ORPHANET:567	ARVCF	421	HP:0000600	Abnormality of the pharynx
ORPHANET:567	ARVCF	421	HP:0100543	Cognitive impairment
ORPHANET:567	ARVCF	421	HP:0000717	Autism
ORPHANET:567	ARVCF	421	HP:0001537	Umbilical hernia
ORPHANET:567	ARVCF	421	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:567	ARVCF	421	HP:0002901	Hypocalcemia
ORPHANET:567	ARVCF	421	HP:0001829	Foot polydactyly
ORPHANET:567	ARVCF	421	HP:0000426	Prominent nasal bridge
ORPHANET:567	ARVCF	421	HP:0100750	Atelectasis
ORPHANET:567	ARVCF	421	HP:0001629	Ventricular septal defect
ORPHANET:567	ARVCF	421	HP:0008872	Feeding difficulties in infancy
ORPHANET:567	ARVCF	421	HP:0000113	Polycystic kidney dysplasia
ORPHANET:567	ARVCF	421	HP:0001061	Acne
ORPHANET:567	ARVCF	421	HP:0002999	Patellar dislocation
ORPHANET:567	ARVCF	421	HP:0001511	Intrauterine growth retardation
ORPHANET:567	ARVCF	421	HP:0002566	Intestinal malrotation
ORPHANET:567	ARVCF	421	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:567	ARVCF	421	HP:0000388	Otitis media
ORPHANET:567	ARVCF	421	HP:0001636	Tetralogy of Fallot
ORPHANET:567	ARVCF	421	HP:0001679	Abnormality of the aorta
ORPHANET:567	ARVCF	421	HP:0001608	Abnormality of the voice
ORPHANET:567	ARVCF	421	HP:0000506	Telecanthus
ORPHANET:567	ARVCF	421	HP:0100589	Urogenital fistula
ORPHANET:567	ARVCF	421	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:567	ARVCF	421	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:567	ARVCF	421	HP:0000508	Ptosis
ORPHANET:567	ARVCF	421	HP:0001744	Splenomegaly
ORPHANET:567	ARVCF	421	HP:0000003	Multicystic kidney dysplasia
ORPHANET:567	ARVCF	421	HP:0001933	Subcutaneous hemorrhage
ORPHANET:567	ARVCF	421	HP:0100627	Displacement of the external urethral meatus
ORPHANET:567	ARVCF	421	HP:0001363	Craniosynostosis
ORPHANET:567	ARVCF	421	HP:0002607	Bowel incontinence
ORPHANET:567	ARVCF	421	HP:0000582	Upslanted palpebral fissure
ORPHANET:567	ARVCF	421	HP:0002167	Neurological speech impairment
ORPHANET:567	ARVCF	421	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:567	ARVCF	421	HP:0000076	Vesicoureteral reflux
ORPHANET:567	ARVCF	421	HP:0001873	Thrombocytopenia
ORPHANET:567	ARVCF	421	HP:0001660	Truncus arteriosus
ORPHANET:567	ARVCF	421	HP:0000028	Cryptorchidism
ORPHANET:567	ARVCF	421	HP:0000836	Hyperthyroidism
ORPHANET:567	ARVCF	421	HP:0000648	Optic atrophy
ORPHANET:567	ARVCF	421	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:567	ARVCF	421	HP:0005293	Venous insufficiency
ORPHANET:567	ARVCF	421	HP:0002099	Asthma
ORPHANET:567	ARVCF	421	HP:0001360	Holoprosencephaly
ORPHANET:567	ARVCF	421	HP:0000286	Epicanthus
ORPHANET:567	ARVCF	421	HP:0000682	Abnormality of dental enamel
ORPHANET:567	ARVCF	421	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:567	ARVCF	421	HP:0000252	Microcephaly
ORPHANET:567	ARVCF	421	HP:0002960	Autoimmunity
ORPHANET:567	ARVCF	421	HP:0001643	Patent ductus arteriosus
ORPHANET:567	ARVCF	421	HP:0000316	Hypertelorism
ORPHANET:567	ARVCF	421	HP:0000765	Abnormality of the thorax
ORPHANET:567	ARVCF	421	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:567	ARVCF	421	HP:0000821	Hypothyroidism
ORPHANET:567	ARVCF	421	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:567	UFD1L	7353	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:567	UFD1L	7353	HP:0000365	Hearing impairment
ORPHANET:567	UFD1L	7353	HP:0002414	Spina bifida
ORPHANET:567	UFD1L	7353	HP:0001080	Biliary tract abnormality
ORPHANET:567	UFD1L	7353	HP:0000470	Short neck
ORPHANET:567	UFD1L	7353	HP:0000202	Oral cleft
ORPHANET:567	UFD1L	7353	HP:0000276	Long face
ORPHANET:567	UFD1L	7353	HP:0001161	Hand polydactyly
ORPHANET:567	UFD1L	7353	HP:0100735	Hypertensive crisis
ORPHANET:567	UFD1L	7353	HP:0001051	Seborrheic dermatitis
ORPHANET:567	UFD1L	7353	HP:0001252	Muscular hypotonia
ORPHANET:567	UFD1L	7353	HP:0005105	Abnormal nasal morphology
ORPHANET:567	UFD1L	7353	HP:0000829	Hypoparathyroidism
ORPHANET:567	UFD1L	7353	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:567	UFD1L	7353	HP:0000494	Downslanted palpebral fissures
ORPHANET:567	UFD1L	7353	HP:0001369	Arthritis
ORPHANET:567	UFD1L	7353	HP:0000347	Micrognathia
ORPHANET:567	UFD1L	7353	HP:0001631	Atria septal defect
ORPHANET:567	UFD1L	7353	HP:0001646	Abnormality of the aortic valve
ORPHANET:567	UFD1L	7353	HP:0002019	Constipation
ORPHANET:567	UFD1L	7353	HP:0000396	Overfolded helix
ORPHANET:567	UFD1L	7353	HP:0000518	Cataract
ORPHANET:567	UFD1L	7353	HP:0001250	Seizures
ORPHANET:567	UFD1L	7353	HP:0000670	Carious teeth
ORPHANET:567	UFD1L	7353	HP:0000008	Abnormality of female internal genitalia
ORPHANET:567	UFD1L	7353	HP:0000486	Strabismus
ORPHANET:567	UFD1L	7353	HP:0002251	Aganglionic megacolon
ORPHANET:567	UFD1L	7353	HP:0000600	Abnormality of the pharynx
ORPHANET:567	UFD1L	7353	HP:0100543	Cognitive impairment
ORPHANET:567	UFD1L	7353	HP:0000717	Autism
ORPHANET:567	UFD1L	7353	HP:0001537	Umbilical hernia
ORPHANET:567	UFD1L	7353	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:567	UFD1L	7353	HP:0002901	Hypocalcemia
ORPHANET:567	UFD1L	7353	HP:0001829	Foot polydactyly
ORPHANET:567	UFD1L	7353	HP:0000426	Prominent nasal bridge
ORPHANET:567	UFD1L	7353	HP:0100750	Atelectasis
ORPHANET:567	UFD1L	7353	HP:0001629	Ventricular septal defect
ORPHANET:567	UFD1L	7353	HP:0008872	Feeding difficulties in infancy
ORPHANET:567	UFD1L	7353	HP:0000113	Polycystic kidney dysplasia
ORPHANET:567	UFD1L	7353	HP:0001061	Acne
ORPHANET:567	UFD1L	7353	HP:0002999	Patellar dislocation
ORPHANET:567	UFD1L	7353	HP:0001511	Intrauterine growth retardation
ORPHANET:567	UFD1L	7353	HP:0002566	Intestinal malrotation
ORPHANET:567	UFD1L	7353	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:567	UFD1L	7353	HP:0000388	Otitis media
ORPHANET:567	UFD1L	7353	HP:0001636	Tetralogy of Fallot
ORPHANET:567	UFD1L	7353	HP:0001679	Abnormality of the aorta
ORPHANET:567	UFD1L	7353	HP:0001608	Abnormality of the voice
ORPHANET:567	UFD1L	7353	HP:0000506	Telecanthus
ORPHANET:567	UFD1L	7353	HP:0100589	Urogenital fistula
ORPHANET:567	UFD1L	7353	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:567	UFD1L	7353	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:567	UFD1L	7353	HP:0000508	Ptosis
ORPHANET:567	UFD1L	7353	HP:0001744	Splenomegaly
ORPHANET:567	UFD1L	7353	HP:0000003	Multicystic kidney dysplasia
ORPHANET:567	UFD1L	7353	HP:0001933	Subcutaneous hemorrhage
ORPHANET:567	UFD1L	7353	HP:0100627	Displacement of the external urethral meatus
ORPHANET:567	UFD1L	7353	HP:0001363	Craniosynostosis
ORPHANET:567	UFD1L	7353	HP:0002607	Bowel incontinence
ORPHANET:567	UFD1L	7353	HP:0000582	Upslanted palpebral fissure
ORPHANET:567	UFD1L	7353	HP:0002167	Neurological speech impairment
ORPHANET:567	UFD1L	7353	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:567	UFD1L	7353	HP:0000076	Vesicoureteral reflux
ORPHANET:567	UFD1L	7353	HP:0001873	Thrombocytopenia
ORPHANET:567	UFD1L	7353	HP:0001660	Truncus arteriosus
ORPHANET:567	UFD1L	7353	HP:0000028	Cryptorchidism
ORPHANET:567	UFD1L	7353	HP:0000836	Hyperthyroidism
ORPHANET:567	UFD1L	7353	HP:0000648	Optic atrophy
ORPHANET:567	UFD1L	7353	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:567	UFD1L	7353	HP:0005293	Venous insufficiency
ORPHANET:567	UFD1L	7353	HP:0002099	Asthma
ORPHANET:567	UFD1L	7353	HP:0001360	Holoprosencephaly
ORPHANET:567	UFD1L	7353	HP:0000286	Epicanthus
ORPHANET:567	UFD1L	7353	HP:0000682	Abnormality of dental enamel
ORPHANET:567	UFD1L	7353	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:567	UFD1L	7353	HP:0000252	Microcephaly
ORPHANET:567	UFD1L	7353	HP:0002960	Autoimmunity
ORPHANET:567	UFD1L	7353	HP:0001643	Patent ductus arteriosus
ORPHANET:567	UFD1L	7353	HP:0000316	Hypertelorism
ORPHANET:567	UFD1L	7353	HP:0000765	Abnormality of the thorax
ORPHANET:567	UFD1L	7353	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:567	UFD1L	7353	HP:0000821	Hypothyroidism
ORPHANET:567	UFD1L	7353	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:567	HIRA	7290	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:567	HIRA	7290	HP:0000365	Hearing impairment
ORPHANET:567	HIRA	7290	HP:0002414	Spina bifida
ORPHANET:567	HIRA	7290	HP:0001080	Biliary tract abnormality
ORPHANET:567	HIRA	7290	HP:0000470	Short neck
ORPHANET:567	HIRA	7290	HP:0000202	Oral cleft
ORPHANET:567	HIRA	7290	HP:0000276	Long face
ORPHANET:567	HIRA	7290	HP:0001161	Hand polydactyly
ORPHANET:567	HIRA	7290	HP:0100735	Hypertensive crisis
ORPHANET:567	HIRA	7290	HP:0001051	Seborrheic dermatitis
ORPHANET:567	HIRA	7290	HP:0001252	Muscular hypotonia
ORPHANET:567	HIRA	7290	HP:0005105	Abnormal nasal morphology
ORPHANET:567	HIRA	7290	HP:0000829	Hypoparathyroidism
ORPHANET:567	HIRA	7290	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:567	HIRA	7290	HP:0000494	Downslanted palpebral fissures
ORPHANET:567	HIRA	7290	HP:0001369	Arthritis
ORPHANET:567	HIRA	7290	HP:0000347	Micrognathia
ORPHANET:567	HIRA	7290	HP:0001631	Atria septal defect
ORPHANET:567	HIRA	7290	HP:0001646	Abnormality of the aortic valve
ORPHANET:567	HIRA	7290	HP:0002019	Constipation
ORPHANET:567	HIRA	7290	HP:0000396	Overfolded helix
ORPHANET:567	HIRA	7290	HP:0000518	Cataract
ORPHANET:567	HIRA	7290	HP:0001250	Seizures
ORPHANET:567	HIRA	7290	HP:0000670	Carious teeth
ORPHANET:567	HIRA	7290	HP:0000008	Abnormality of female internal genitalia
ORPHANET:567	HIRA	7290	HP:0000486	Strabismus
ORPHANET:567	HIRA	7290	HP:0002251	Aganglionic megacolon
ORPHANET:567	HIRA	7290	HP:0000600	Abnormality of the pharynx
ORPHANET:567	HIRA	7290	HP:0100543	Cognitive impairment
ORPHANET:567	HIRA	7290	HP:0000717	Autism
ORPHANET:567	HIRA	7290	HP:0001537	Umbilical hernia
ORPHANET:567	HIRA	7290	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:567	HIRA	7290	HP:0002901	Hypocalcemia
ORPHANET:567	HIRA	7290	HP:0001829	Foot polydactyly
ORPHANET:567	HIRA	7290	HP:0000426	Prominent nasal bridge
ORPHANET:567	HIRA	7290	HP:0100750	Atelectasis
ORPHANET:567	HIRA	7290	HP:0001629	Ventricular septal defect
ORPHANET:567	HIRA	7290	HP:0008872	Feeding difficulties in infancy
ORPHANET:567	HIRA	7290	HP:0000113	Polycystic kidney dysplasia
ORPHANET:567	HIRA	7290	HP:0001061	Acne
ORPHANET:567	HIRA	7290	HP:0002999	Patellar dislocation
ORPHANET:567	HIRA	7290	HP:0001511	Intrauterine growth retardation
ORPHANET:567	HIRA	7290	HP:0002566	Intestinal malrotation
ORPHANET:567	HIRA	7290	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:567	HIRA	7290	HP:0000388	Otitis media
ORPHANET:567	HIRA	7290	HP:0001636	Tetralogy of Fallot
ORPHANET:567	HIRA	7290	HP:0001679	Abnormality of the aorta
ORPHANET:567	HIRA	7290	HP:0001608	Abnormality of the voice
ORPHANET:567	HIRA	7290	HP:0000506	Telecanthus
ORPHANET:567	HIRA	7290	HP:0100589	Urogenital fistula
ORPHANET:567	HIRA	7290	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:567	HIRA	7290	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:567	HIRA	7290	HP:0000508	Ptosis
ORPHANET:567	HIRA	7290	HP:0001744	Splenomegaly
ORPHANET:567	HIRA	7290	HP:0000003	Multicystic kidney dysplasia
ORPHANET:567	HIRA	7290	HP:0001933	Subcutaneous hemorrhage
ORPHANET:567	HIRA	7290	HP:0100627	Displacement of the external urethral meatus
ORPHANET:567	HIRA	7290	HP:0001363	Craniosynostosis
ORPHANET:567	HIRA	7290	HP:0002607	Bowel incontinence
ORPHANET:567	HIRA	7290	HP:0000582	Upslanted palpebral fissure
ORPHANET:567	HIRA	7290	HP:0002167	Neurological speech impairment
ORPHANET:567	HIRA	7290	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:567	HIRA	7290	HP:0000076	Vesicoureteral reflux
ORPHANET:567	HIRA	7290	HP:0001873	Thrombocytopenia
ORPHANET:567	HIRA	7290	HP:0001660	Truncus arteriosus
ORPHANET:567	HIRA	7290	HP:0000028	Cryptorchidism
ORPHANET:567	HIRA	7290	HP:0000836	Hyperthyroidism
ORPHANET:567	HIRA	7290	HP:0000648	Optic atrophy
ORPHANET:567	HIRA	7290	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:567	HIRA	7290	HP:0005293	Venous insufficiency
ORPHANET:567	HIRA	7290	HP:0002099	Asthma
ORPHANET:567	HIRA	7290	HP:0001360	Holoprosencephaly
ORPHANET:567	HIRA	7290	HP:0000286	Epicanthus
ORPHANET:567	HIRA	7290	HP:0000682	Abnormality of dental enamel
ORPHANET:567	HIRA	7290	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:567	HIRA	7290	HP:0000252	Microcephaly
ORPHANET:567	HIRA	7290	HP:0002960	Autoimmunity
ORPHANET:567	HIRA	7290	HP:0001643	Patent ductus arteriosus
ORPHANET:567	HIRA	7290	HP:0000316	Hypertelorism
ORPHANET:567	HIRA	7290	HP:0000765	Abnormality of the thorax
ORPHANET:567	HIRA	7290	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:567	HIRA	7290	HP:0000821	Hypothyroidism
ORPHANET:567	HIRA	7290	HP:0001702	Abnormality of the tricuspid valve
ORPHANET:567	GP1BB	2812	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:567	GP1BB	2812	HP:0000365	Hearing impairment
ORPHANET:567	GP1BB	2812	HP:0002414	Spina bifida
ORPHANET:567	GP1BB	2812	HP:0001080	Biliary tract abnormality
ORPHANET:567	GP1BB	2812	HP:0000470	Short neck
ORPHANET:567	GP1BB	2812	HP:0000202	Oral cleft
ORPHANET:567	GP1BB	2812	HP:0000276	Long face
ORPHANET:567	GP1BB	2812	HP:0001161	Hand polydactyly
ORPHANET:567	GP1BB	2812	HP:0100735	Hypertensive crisis
ORPHANET:567	GP1BB	2812	HP:0001051	Seborrheic dermatitis
ORPHANET:567	GP1BB	2812	HP:0001252	Muscular hypotonia
ORPHANET:567	GP1BB	2812	HP:0005105	Abnormal nasal morphology
ORPHANET:567	GP1BB	2812	HP:0000829	Hypoparathyroidism
ORPHANET:567	GP1BB	2812	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:567	GP1BB	2812	HP:0000494	Downslanted palpebral fissures
ORPHANET:567	GP1BB	2812	HP:0001369	Arthritis
ORPHANET:567	GP1BB	2812	HP:0000347	Micrognathia
ORPHANET:567	GP1BB	2812	HP:0001631	Atria septal defect
ORPHANET:567	GP1BB	2812	HP:0001646	Abnormality of the aortic valve
ORPHANET:567	GP1BB	2812	HP:0002019	Constipation
ORPHANET:567	GP1BB	2812	HP:0000396	Overfolded helix
ORPHANET:567	GP1BB	2812	HP:0000518	Cataract
ORPHANET:567	GP1BB	2812	HP:0001250	Seizures
ORPHANET:567	GP1BB	2812	HP:0000670	Carious teeth
ORPHANET:567	GP1BB	2812	HP:0000008	Abnormality of female internal genitalia
ORPHANET:567	GP1BB	2812	HP:0000486	Strabismus
ORPHANET:567	GP1BB	2812	HP:0002251	Aganglionic megacolon
ORPHANET:567	GP1BB	2812	HP:0000600	Abnormality of the pharynx
ORPHANET:567	GP1BB	2812	HP:0100543	Cognitive impairment
ORPHANET:567	GP1BB	2812	HP:0000717	Autism
ORPHANET:567	GP1BB	2812	HP:0001537	Umbilical hernia
ORPHANET:567	GP1BB	2812	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:567	GP1BB	2812	HP:0002901	Hypocalcemia
ORPHANET:567	GP1BB	2812	HP:0001829	Foot polydactyly
ORPHANET:567	GP1BB	2812	HP:0000426	Prominent nasal bridge
ORPHANET:567	GP1BB	2812	HP:0100750	Atelectasis
ORPHANET:567	GP1BB	2812	HP:0001629	Ventricular septal defect
ORPHANET:567	GP1BB	2812	HP:0008872	Feeding difficulties in infancy
ORPHANET:567	GP1BB	2812	HP:0000113	Polycystic kidney dysplasia
ORPHANET:567	GP1BB	2812	HP:0001061	Acne
ORPHANET:567	GP1BB	2812	HP:0002999	Patellar dislocation
ORPHANET:567	GP1BB	2812	HP:0001511	Intrauterine growth retardation
ORPHANET:567	GP1BB	2812	HP:0002566	Intestinal malrotation
ORPHANET:567	GP1BB	2812	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:567	GP1BB	2812	HP:0000388	Otitis media
ORPHANET:567	GP1BB	2812	HP:0001636	Tetralogy of Fallot
ORPHANET:567	GP1BB	2812	HP:0001679	Abnormality of the aorta
ORPHANET:567	GP1BB	2812	HP:0001608	Abnormality of the voice
ORPHANET:567	GP1BB	2812	HP:0000506	Telecanthus
ORPHANET:567	GP1BB	2812	HP:0100589	Urogenital fistula
ORPHANET:567	GP1BB	2812	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:567	GP1BB	2812	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:567	GP1BB	2812	HP:0000508	Ptosis
ORPHANET:567	GP1BB	2812	HP:0001744	Splenomegaly
ORPHANET:567	GP1BB	2812	HP:0000003	Multicystic kidney dysplasia
ORPHANET:567	GP1BB	2812	HP:0001933	Subcutaneous hemorrhage
ORPHANET:567	GP1BB	2812	HP:0100627	Displacement of the external urethral meatus
ORPHANET:567	GP1BB	2812	HP:0001363	Craniosynostosis
ORPHANET:567	GP1BB	2812	HP:0002607	Bowel incontinence
ORPHANET:567	GP1BB	2812	HP:0000582	Upslanted palpebral fissure
ORPHANET:567	GP1BB	2812	HP:0002167	Neurological speech impairment
ORPHANET:567	GP1BB	2812	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:567	GP1BB	2812	HP:0000076	Vesicoureteral reflux
ORPHANET:567	GP1BB	2812	HP:0001873	Thrombocytopenia
ORPHANET:567	GP1BB	2812	HP:0001660	Truncus arteriosus
ORPHANET:567	GP1BB	2812	HP:0000028	Cryptorchidism
ORPHANET:567	GP1BB	2812	HP:0000836	Hyperthyroidism
ORPHANET:567	GP1BB	2812	HP:0000648	Optic atrophy
ORPHANET:567	GP1BB	2812	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:567	GP1BB	2812	HP:0005293	Venous insufficiency
ORPHANET:567	GP1BB	2812	HP:0002099	Asthma
ORPHANET:567	GP1BB	2812	HP:0001360	Holoprosencephaly
ORPHANET:567	GP1BB	2812	HP:0000286	Epicanthus
ORPHANET:567	GP1BB	2812	HP:0000682	Abnormality of dental enamel
ORPHANET:567	GP1BB	2812	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:567	GP1BB	2812	HP:0000252	Microcephaly
ORPHANET:567	GP1BB	2812	HP:0002960	Autoimmunity
ORPHANET:567	GP1BB	2812	HP:0001643	Patent ductus arteriosus
ORPHANET:567	GP1BB	2812	HP:0000316	Hypertelorism
ORPHANET:567	GP1BB	2812	HP:0000765	Abnormality of the thorax
ORPHANET:567	GP1BB	2812	HP:0009906	Aplasia/Hypoplasia of the earlobes
ORPHANET:567	GP1BB	2812	HP:0000821	Hypothyroidism
ORPHANET:567	GP1BB	2812	HP:0001702	Abnormality of the tricuspid valve
OMIM:176090	HFE	3077	HP:0001030	Fragile skin
OMIM:176090	HFE	3077	HP:0001395	Hepatic fibrosis
OMIM:176090	HFE	3077	HP:0001425	Heterogeneous
OMIM:176090	HFE	3077	HP:0000953	Hyperpigmentation of the skin
OMIM:176090	HFE	3077	HP:0000006	Autosomal dominant inheritance
OMIM:176090	HFE	3077	HP:0000964	Eczema
OMIM:176090	HFE	3077	HP:0000998	Hypertrichosis
OMIM:176090	UROD	7389	HP:0001030	Fragile skin
OMIM:176090	UROD	7389	HP:0001395	Hepatic fibrosis
OMIM:176090	UROD	7389	HP:0001425	Heterogeneous
OMIM:176090	UROD	7389	HP:0000953	Hyperpigmentation of the skin
OMIM:176090	UROD	7389	HP:0000006	Autosomal dominant inheritance
OMIM:176090	UROD	7389	HP:0000964	Eczema
OMIM:176090	UROD	7389	HP:0000998	Hypertrichosis
OMIM:607208	SCN1A	6323	HP:0001251	Ataxia
OMIM:607208	SCN1A	6323	HP:0002059	Cerebral atrophy
OMIM:607208	SCN1A	6323	HP:0002121	Absence seizures
OMIM:607208	SCN1A	6323	HP:0006813	Hemiclonic seizures
OMIM:607208	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:607208	SCN1A	6323	HP:0001270	Motor delay
OMIM:607208	SCN1A	6323	HP:0100704	Cortical visual impairment
OMIM:607208	SCN1A	6323	HP:0001268	Mental deterioration
OMIM:607208	SCN1A	6323	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607208	SCN1A	6323	HP:0005484	Postnatal microcephaly
OMIM:607208	SCN1A	6323	HP:0001263	Global developmental delay
OMIM:607208	SCN1A	6323	HP:0002133	Status epilepticus
OMIM:607208	SCN1A	6323	HP:0003593	Infantile onset
OMIM:607208	SCN1A	6323	HP:0200134	Epileptic encephalopathy
OMIM:607208	SCN1A	6323	HP:0002123	Generalized myoclonic seizures
OMIM:607208	SCN1B	6324	HP:0001251	Ataxia
OMIM:607208	SCN1B	6324	HP:0002059	Cerebral atrophy
OMIM:607208	SCN1B	6324	HP:0002121	Absence seizures
OMIM:607208	SCN1B	6324	HP:0006813	Hemiclonic seizures
OMIM:607208	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:607208	SCN1B	6324	HP:0001270	Motor delay
OMIM:607208	SCN1B	6324	HP:0100704	Cortical visual impairment
OMIM:607208	SCN1B	6324	HP:0001268	Mental deterioration
OMIM:607208	SCN1B	6324	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607208	SCN1B	6324	HP:0005484	Postnatal microcephaly
OMIM:607208	SCN1B	6324	HP:0001263	Global developmental delay
OMIM:607208	SCN1B	6324	HP:0002133	Status epilepticus
OMIM:607208	SCN1B	6324	HP:0003593	Infantile onset
OMIM:607208	SCN1B	6324	HP:0200134	Epileptic encephalopathy
OMIM:607208	SCN1B	6324	HP:0002123	Generalized myoclonic seizures
OMIM:607208	SCN2A	6326	HP:0001251	Ataxia
OMIM:607208	SCN2A	6326	HP:0002059	Cerebral atrophy
OMIM:607208	SCN2A	6326	HP:0002121	Absence seizures
OMIM:607208	SCN2A	6326	HP:0006813	Hemiclonic seizures
OMIM:607208	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:607208	SCN2A	6326	HP:0001270	Motor delay
OMIM:607208	SCN2A	6326	HP:0100704	Cortical visual impairment
OMIM:607208	SCN2A	6326	HP:0001268	Mental deterioration
OMIM:607208	SCN2A	6326	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607208	SCN2A	6326	HP:0005484	Postnatal microcephaly
OMIM:607208	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:607208	SCN2A	6326	HP:0002133	Status epilepticus
OMIM:607208	SCN2A	6326	HP:0003593	Infantile onset
OMIM:607208	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:607208	SCN2A	6326	HP:0002123	Generalized myoclonic seizures
OMIM:607208	GABRG2	2566	HP:0001251	Ataxia
OMIM:607208	GABRG2	2566	HP:0002059	Cerebral atrophy
OMIM:607208	GABRG2	2566	HP:0002121	Absence seizures
OMIM:607208	GABRG2	2566	HP:0006813	Hemiclonic seizures
OMIM:607208	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:607208	GABRG2	2566	HP:0001270	Motor delay
OMIM:607208	GABRG2	2566	HP:0100704	Cortical visual impairment
OMIM:607208	GABRG2	2566	HP:0001268	Mental deterioration
OMIM:607208	GABRG2	2566	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607208	GABRG2	2566	HP:0005484	Postnatal microcephaly
OMIM:607208	GABRG2	2566	HP:0001263	Global developmental delay
OMIM:607208	GABRG2	2566	HP:0002133	Status epilepticus
OMIM:607208	GABRG2	2566	HP:0003593	Infantile onset
OMIM:607208	GABRG2	2566	HP:0200134	Epileptic encephalopathy
OMIM:607208	GABRG2	2566	HP:0002123	Generalized myoclonic seizures
OMIM:607208	PCDH19	57526	HP:0001251	Ataxia
OMIM:607208	PCDH19	57526	HP:0002059	Cerebral atrophy
OMIM:607208	PCDH19	57526	HP:0002121	Absence seizures
OMIM:607208	PCDH19	57526	HP:0006813	Hemiclonic seizures
OMIM:607208	PCDH19	57526	HP:0000006	Autosomal dominant inheritance
OMIM:607208	PCDH19	57526	HP:0001270	Motor delay
OMIM:607208	PCDH19	57526	HP:0100704	Cortical visual impairment
OMIM:607208	PCDH19	57526	HP:0001268	Mental deterioration
OMIM:607208	PCDH19	57526	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607208	PCDH19	57526	HP:0005484	Postnatal microcephaly
OMIM:607208	PCDH19	57526	HP:0001263	Global developmental delay
OMIM:607208	PCDH19	57526	HP:0002133	Status epilepticus
OMIM:607208	PCDH19	57526	HP:0003593	Infantile onset
OMIM:607208	PCDH19	57526	HP:0200134	Epileptic encephalopathy
OMIM:607208	PCDH19	57526	HP:0002123	Generalized myoclonic seizures
OMIM:607208	GABRA1	2554	HP:0001251	Ataxia
OMIM:607208	GABRA1	2554	HP:0002059	Cerebral atrophy
OMIM:607208	GABRA1	2554	HP:0002121	Absence seizures
OMIM:607208	GABRA1	2554	HP:0006813	Hemiclonic seizures
OMIM:607208	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:607208	GABRA1	2554	HP:0001270	Motor delay
OMIM:607208	GABRA1	2554	HP:0100704	Cortical visual impairment
OMIM:607208	GABRA1	2554	HP:0001268	Mental deterioration
OMIM:607208	GABRA1	2554	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607208	GABRA1	2554	HP:0005484	Postnatal microcephaly
OMIM:607208	GABRA1	2554	HP:0001263	Global developmental delay
OMIM:607208	GABRA1	2554	HP:0002133	Status epilepticus
OMIM:607208	GABRA1	2554	HP:0003593	Infantile onset
OMIM:607208	GABRA1	2554	HP:0200134	Epileptic encephalopathy
OMIM:607208	GABRA1	2554	HP:0002123	Generalized myoclonic seizures
OMIM:607208	STXBP1	6812	HP:0001251	Ataxia
OMIM:607208	STXBP1	6812	HP:0002059	Cerebral atrophy
OMIM:607208	STXBP1	6812	HP:0002121	Absence seizures
OMIM:607208	STXBP1	6812	HP:0006813	Hemiclonic seizures
OMIM:607208	STXBP1	6812	HP:0000006	Autosomal dominant inheritance
OMIM:607208	STXBP1	6812	HP:0001270	Motor delay
OMIM:607208	STXBP1	6812	HP:0100704	Cortical visual impairment
OMIM:607208	STXBP1	6812	HP:0001268	Mental deterioration
OMIM:607208	STXBP1	6812	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607208	STXBP1	6812	HP:0005484	Postnatal microcephaly
OMIM:607208	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:607208	STXBP1	6812	HP:0002133	Status epilepticus
OMIM:607208	STXBP1	6812	HP:0003593	Infantile onset
OMIM:607208	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:607208	STXBP1	6812	HP:0002123	Generalized myoclonic seizures
OMIM:607208	SCN9A	6335	HP:0001251	Ataxia
OMIM:607208	SCN9A	6335	HP:0002059	Cerebral atrophy
OMIM:607208	SCN9A	6335	HP:0002121	Absence seizures
OMIM:607208	SCN9A	6335	HP:0006813	Hemiclonic seizures
OMIM:607208	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:607208	SCN9A	6335	HP:0001270	Motor delay
OMIM:607208	SCN9A	6335	HP:0100704	Cortical visual impairment
OMIM:607208	SCN9A	6335	HP:0001268	Mental deterioration
OMIM:607208	SCN9A	6335	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:607208	SCN9A	6335	HP:0005484	Postnatal microcephaly
OMIM:607208	SCN9A	6335	HP:0001263	Global developmental delay
OMIM:607208	SCN9A	6335	HP:0002133	Status epilepticus
OMIM:607208	SCN9A	6335	HP:0003593	Infantile onset
OMIM:607208	SCN9A	6335	HP:0200134	Epileptic encephalopathy
OMIM:607208	SCN9A	6335	HP:0002123	Generalized myoclonic seizures
OMIM:210710	RNU4ATAC	100151683	HP:0000252	Microcephaly
OMIM:210710	RNU4ATAC	100151683	HP:0001176	Large hands
OMIM:210710	RNU4ATAC	100151683	HP:0001562	Oligohydramnios
OMIM:210710	RNU4ATAC	100151683	HP:0001302	Pachygyria
OMIM:210710	RNU4ATAC	100151683	HP:0002987	Elbow flexion contracture
OMIM:210710	RNU4ATAC	100151683	HP:0002282	Heterotopia
OMIM:210710	RNU4ATAC	100151683	HP:0000958	Dry skin
OMIM:210710	RNU4ATAC	100151683	HP:0001511	Intrauterine growth retardation
OMIM:210710	RNU4ATAC	100151683	HP:0001156	Brachydactyly syndrome
OMIM:210710	RNU4ATAC	100151683	HP:0005792	Short humerus
OMIM:210710	RNU4ATAC	100151683	HP:0000535	Sparse eyebrow
OMIM:210710	RNU4ATAC	100151683	HP:0001833	Long foot
OMIM:210710	RNU4ATAC	100151683	HP:0001249	Intellectual disability
OMIM:210710	RNU4ATAC	100151683	HP:0000962	Hyperkeratosis
OMIM:210710	RNU4ATAC	100151683	HP:0000089	Renal hypoplasia
OMIM:210710	RNU4ATAC	100151683	HP:0000107	Renal cyst
OMIM:210710	RNU4ATAC	100151683	HP:0001680	Coarctation of aorta
OMIM:210710	RNU4ATAC	100151683	HP:0000946	Hypoplastic ilia
OMIM:210710	RNU4ATAC	100151683	HP:0001274	Agenesis of corpus callosum
OMIM:210710	RNU4ATAC	100151683	HP:0000448	Prominent nose
OMIM:210710	RNU4ATAC	100151683	HP:0002750	Delayed skeletal maturation
OMIM:210710	RNU4ATAC	100151683	HP:0000377	Abnormality of the pinna
OMIM:210710	RNU4ATAC	100151683	HP:0000269	Prominent occiput
OMIM:210710	RNU4ATAC	100151683	HP:0008551	Microtia
OMIM:210710	RNU4ATAC	100151683	HP:0010049	Short metacarpal
OMIM:210710	RNU4ATAC	100151683	HP:0000653	Sparse eyelashes
OMIM:210710	RNU4ATAC	100151683	HP:0003826	Stillbirth
OMIM:210710	RNU4ATAC	100151683	HP:0000369	Low-set ears
OMIM:210710	RNU4ATAC	100151683	HP:0003042	Elbow dislocation
OMIM:210710	RNU4ATAC	100151683	HP:0000470	Short neck
OMIM:210710	RNU4ATAC	100151683	HP:0002980	Femoral bowing
OMIM:210710	RNU4ATAC	100151683	HP:0000340	Sloping forehead
OMIM:210710	RNU4ATAC	100151683	HP:0000007	Autosomal recessive inheritance
OMIM:210710	RNU4ATAC	100151683	HP:0001508	Failure to thrive
OMIM:210710	RNU4ATAC	100151683	HP:0003273	Hip contracture
OMIM:210710	RNU4ATAC	100151683	HP:0003498	Disproportionate short stature
OMIM:210710	RNU4ATAC	100151683	HP:0000028	Cryptorchidism
OMIM:210710	RNU4ATAC	100151683	HP:0006579	Prolonged neonatal jaundice
OMIM:210710	RNU4ATAC	100151683	HP:0002335	Agenesis of cerebellar vermis
OMIM:210710	RNU4ATAC	100151683	HP:0002209	Sparse scalp hair
OMIM:210710	RNU4ATAC	100151683	HP:0002827	Hip dislocation
OMIM:210710	RNU4ATAC	100151683	HP:0000878	11 pairs of ribs
OMIM:210710	RNU4ATAC	100151683	HP:0006380	Knee flexion contracture
OMIM:210710	RNU4ATAC	100151683	HP:0000520	Proptosis
OMIM:210710	RNU4ATAC	100151683	HP:0001250	Seizures
OMIM:210710	RNU4ATAC	100151683	HP:0000237	Small anterior fontanelle
OMIM:210710	RNU4ATAC	100151683	HP:0001631	Atria septal defect
OMIM:210710	RNU4ATAC	100151683	HP:0000347	Micrognathia
OMIM:210710	RNU4ATAC	100151683	HP:0002983	Micromelia
OMIM:210710	RNU4ATAC	100151683	HP:0001636	Tetralogy of Fallot
OMIM:210710	RNU4ATAC	100151683	HP:0000926	Platyspondyly
OMIM:210710	RNU4ATAC	100151683	HP:0000054	Micropenis
OMIM:210710	RNU4ATAC	100151683	HP:0000954	Single transverse palmar crease
OMIM:309801	COX7B	1349	HP:0004322	Short stature
OMIM:309801	COX7B	1349	HP:0000238	Hydrocephalus
OMIM:309801	COX7B	1349	HP:0011675	Arrhythmia
OMIM:309801	COX7B	1349	HP:0001629	Ventricular septal defect
OMIM:309801	COX7B	1349	HP:0000013	Hypoplasia of the uterus
OMIM:309801	COX7B	1349	HP:0001423	X-linked dominant inheritance
OMIM:309801	COX7B	1349	HP:0000041	Chordee
OMIM:309801	COX7B	1349	HP:0000252	Microcephaly
OMIM:309801	COX7B	1349	HP:0001274	Agenesis of corpus callosum
OMIM:309801	COX7B	1349	HP:0000776	Congenital diaphragmatic hernia
OMIM:309801	COX7B	1349	HP:0000568	Microphthalmia
OMIM:309801	COX7B	1349	HP:0000047	Hypospadias
OMIM:309801	COX7B	1349	HP:0000647	Sclerocornea
OMIM:309801	COX7B	1349	HP:0000054	Micropenis
OMIM:309801	COX7B	1349	HP:0000518	Cataract
OMIM:309801	COX7B	1349	HP:0001631	Atria septal defect
OMIM:309801	COX7B	1349	HP:0008665	Clitoral hypertrophy
OMIM:309801	COX7B	1349	HP:0002023	Anal atresia
OMIM:309801	COX7B	1349	HP:0030048	Colpocephaly
OMIM:309801	COX7B	1349	HP:0000612	Iris coloboma
OMIM:309801	COX7B	1349	HP:0012861	Ovotestis
OMIM:309801	COX7B	1349	HP:0002623	Overriding aorta
OMIM:309801	COX7B	1349	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:309801	COX7B	1349	HP:0001250	Seizures
OMIM:309801	COX7B	1349	HP:0000580	Pigmentary retinopathy
OMIM:309801	COX7B	1349	HP:0006887	Intellectual disability, progressive
OMIM:309801	COX7B	1349	HP:0000365	Hearing impairment
OMIM:309801	NDUFB11	54539	HP:0004322	Short stature
OMIM:309801	NDUFB11	54539	HP:0000238	Hydrocephalus
OMIM:309801	NDUFB11	54539	HP:0011675	Arrhythmia
OMIM:309801	NDUFB11	54539	HP:0001629	Ventricular septal defect
OMIM:309801	NDUFB11	54539	HP:0000013	Hypoplasia of the uterus
OMIM:309801	NDUFB11	54539	HP:0001423	X-linked dominant inheritance
OMIM:309801	NDUFB11	54539	HP:0000041	Chordee
OMIM:309801	NDUFB11	54539	HP:0000252	Microcephaly
OMIM:309801	NDUFB11	54539	HP:0001274	Agenesis of corpus callosum
OMIM:309801	NDUFB11	54539	HP:0000776	Congenital diaphragmatic hernia
OMIM:309801	NDUFB11	54539	HP:0000568	Microphthalmia
OMIM:309801	NDUFB11	54539	HP:0000047	Hypospadias
OMIM:309801	NDUFB11	54539	HP:0000647	Sclerocornea
OMIM:309801	NDUFB11	54539	HP:0000054	Micropenis
OMIM:309801	NDUFB11	54539	HP:0000518	Cataract
OMIM:309801	NDUFB11	54539	HP:0001631	Atria septal defect
OMIM:309801	NDUFB11	54539	HP:0008665	Clitoral hypertrophy
OMIM:309801	NDUFB11	54539	HP:0002023	Anal atresia
OMIM:309801	NDUFB11	54539	HP:0030048	Colpocephaly
OMIM:309801	NDUFB11	54539	HP:0000612	Iris coloboma
OMIM:309801	NDUFB11	54539	HP:0012861	Ovotestis
OMIM:309801	NDUFB11	54539	HP:0002623	Overriding aorta
OMIM:309801	NDUFB11	54539	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:309801	NDUFB11	54539	HP:0001250	Seizures
OMIM:309801	NDUFB11	54539	HP:0000580	Pigmentary retinopathy
OMIM:309801	NDUFB11	54539	HP:0006887	Intellectual disability, progressive
OMIM:309801	NDUFB11	54539	HP:0000365	Hearing impairment
OMIM:309801	HCCS	3052	HP:0004322	Short stature
OMIM:309801	HCCS	3052	HP:0000238	Hydrocephalus
OMIM:309801	HCCS	3052	HP:0011675	Arrhythmia
OMIM:309801	HCCS	3052	HP:0001629	Ventricular septal defect
OMIM:309801	HCCS	3052	HP:0000013	Hypoplasia of the uterus
OMIM:309801	HCCS	3052	HP:0001423	X-linked dominant inheritance
OMIM:309801	HCCS	3052	HP:0000041	Chordee
OMIM:309801	HCCS	3052	HP:0000252	Microcephaly
OMIM:309801	HCCS	3052	HP:0001274	Agenesis of corpus callosum
OMIM:309801	HCCS	3052	HP:0000776	Congenital diaphragmatic hernia
OMIM:309801	HCCS	3052	HP:0000568	Microphthalmia
OMIM:309801	HCCS	3052	HP:0000047	Hypospadias
OMIM:309801	HCCS	3052	HP:0000647	Sclerocornea
OMIM:309801	HCCS	3052	HP:0000054	Micropenis
OMIM:309801	HCCS	3052	HP:0000518	Cataract
OMIM:309801	HCCS	3052	HP:0001631	Atria septal defect
OMIM:309801	HCCS	3052	HP:0008665	Clitoral hypertrophy
OMIM:309801	HCCS	3052	HP:0002023	Anal atresia
OMIM:309801	HCCS	3052	HP:0030048	Colpocephaly
OMIM:309801	HCCS	3052	HP:0000612	Iris coloboma
OMIM:309801	HCCS	3052	HP:0012861	Ovotestis
OMIM:309801	HCCS	3052	HP:0002623	Overriding aorta
OMIM:309801	HCCS	3052	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:309801	HCCS	3052	HP:0001250	Seizures
OMIM:309801	HCCS	3052	HP:0000580	Pigmentary retinopathy
OMIM:309801	HCCS	3052	HP:0006887	Intellectual disability, progressive
OMIM:309801	HCCS	3052	HP:0000365	Hearing impairment
OMIM:300953	ERCC2	2068	HP:0000054	Micropenis
OMIM:300953	ERCC2	2068	HP:0002299	Brittle hair
OMIM:300953	ERCC2	2068	HP:0000965	Cutis marmorata
OMIM:300953	ERCC2	2068	HP:0002217	Slow-growing hair
OMIM:300953	ERCC2	2068	HP:0005328	Progeroid facial appearance
OMIM:300953	ERCC2	2068	HP:0000154	Wide mouth
OMIM:300953	ERCC2	2068	HP:0001249	Intellectual disability
OMIM:300953	ERCC2	2068	HP:0001321	Cerebellar hypoplasia
OMIM:300953	ERCC2	2068	HP:0004313	Decreased antibody level in blood
OMIM:300953	ERCC2	2068	HP:0002719	Recurrent infections
OMIM:300953	ERCC2	2068	HP:0000252	Microcephaly
OMIM:300953	ERCC2	2068	HP:0000303	Mandibular prognathia
OMIM:300953	ERCC2	2068	HP:0004322	Short stature
OMIM:300953	ERCC2	2068	HP:0001305	Dandy-Walker malformation
OMIM:300953	ERCC2	2068	HP:0008070	Sparse hair
OMIM:300953	ERCC2	2068	HP:0000348	High forehead
OMIM:300953	MPLKIP	136647	HP:0000054	Micropenis
OMIM:300953	MPLKIP	136647	HP:0002299	Brittle hair
OMIM:300953	MPLKIP	136647	HP:0000965	Cutis marmorata
OMIM:300953	MPLKIP	136647	HP:0002217	Slow-growing hair
OMIM:300953	MPLKIP	136647	HP:0005328	Progeroid facial appearance
OMIM:300953	MPLKIP	136647	HP:0000154	Wide mouth
OMIM:300953	MPLKIP	136647	HP:0001249	Intellectual disability
OMIM:300953	MPLKIP	136647	HP:0001321	Cerebellar hypoplasia
OMIM:300953	MPLKIP	136647	HP:0004313	Decreased antibody level in blood
OMIM:300953	MPLKIP	136647	HP:0002719	Recurrent infections
OMIM:300953	MPLKIP	136647	HP:0000252	Microcephaly
OMIM:300953	MPLKIP	136647	HP:0000303	Mandibular prognathia
OMIM:300953	MPLKIP	136647	HP:0004322	Short stature
OMIM:300953	MPLKIP	136647	HP:0001305	Dandy-Walker malformation
OMIM:300953	MPLKIP	136647	HP:0008070	Sparse hair
OMIM:300953	MPLKIP	136647	HP:0000348	High forehead
OMIM:300953	GTF2H5	404672	HP:0000054	Micropenis
OMIM:300953	GTF2H5	404672	HP:0002299	Brittle hair
OMIM:300953	GTF2H5	404672	HP:0000965	Cutis marmorata
OMIM:300953	GTF2H5	404672	HP:0002217	Slow-growing hair
OMIM:300953	GTF2H5	404672	HP:0005328	Progeroid facial appearance
OMIM:300953	GTF2H5	404672	HP:0000154	Wide mouth
OMIM:300953	GTF2H5	404672	HP:0001249	Intellectual disability
OMIM:300953	GTF2H5	404672	HP:0001321	Cerebellar hypoplasia
OMIM:300953	GTF2H5	404672	HP:0004313	Decreased antibody level in blood
OMIM:300953	GTF2H5	404672	HP:0002719	Recurrent infections
OMIM:300953	GTF2H5	404672	HP:0000252	Microcephaly
OMIM:300953	GTF2H5	404672	HP:0000303	Mandibular prognathia
OMIM:300953	GTF2H5	404672	HP:0004322	Short stature
OMIM:300953	GTF2H5	404672	HP:0001305	Dandy-Walker malformation
OMIM:300953	GTF2H5	404672	HP:0008070	Sparse hair
OMIM:300953	GTF2H5	404672	HP:0000348	High forehead
OMIM:300953	ERCC3	2071	HP:0000054	Micropenis
OMIM:300953	ERCC3	2071	HP:0002299	Brittle hair
OMIM:300953	ERCC3	2071	HP:0000965	Cutis marmorata
OMIM:300953	ERCC3	2071	HP:0002217	Slow-growing hair
OMIM:300953	ERCC3	2071	HP:0005328	Progeroid facial appearance
OMIM:300953	ERCC3	2071	HP:0000154	Wide mouth
OMIM:300953	ERCC3	2071	HP:0001249	Intellectual disability
OMIM:300953	ERCC3	2071	HP:0001321	Cerebellar hypoplasia
OMIM:300953	ERCC3	2071	HP:0004313	Decreased antibody level in blood
OMIM:300953	ERCC3	2071	HP:0002719	Recurrent infections
OMIM:300953	ERCC3	2071	HP:0000252	Microcephaly
OMIM:300953	ERCC3	2071	HP:0000303	Mandibular prognathia
OMIM:300953	ERCC3	2071	HP:0004322	Short stature
OMIM:300953	ERCC3	2071	HP:0001305	Dandy-Walker malformation
OMIM:300953	ERCC3	2071	HP:0008070	Sparse hair
OMIM:300953	ERCC3	2071	HP:0000348	High forehead
OMIM:300953	RNF113A	7737	HP:0000054	Micropenis
OMIM:300953	RNF113A	7737	HP:0002299	Brittle hair
OMIM:300953	RNF113A	7737	HP:0000965	Cutis marmorata
OMIM:300953	RNF113A	7737	HP:0002217	Slow-growing hair
OMIM:300953	RNF113A	7737	HP:0005328	Progeroid facial appearance
OMIM:300953	RNF113A	7737	HP:0000154	Wide mouth
OMIM:300953	RNF113A	7737	HP:0001249	Intellectual disability
OMIM:300953	RNF113A	7737	HP:0001321	Cerebellar hypoplasia
OMIM:300953	RNF113A	7737	HP:0004313	Decreased antibody level in blood
OMIM:300953	RNF113A	7737	HP:0002719	Recurrent infections
OMIM:300953	RNF113A	7737	HP:0000252	Microcephaly
OMIM:300953	RNF113A	7737	HP:0000303	Mandibular prognathia
OMIM:300953	RNF113A	7737	HP:0004322	Short stature
OMIM:300953	RNF113A	7737	HP:0001305	Dandy-Walker malformation
OMIM:300953	RNF113A	7737	HP:0008070	Sparse hair
OMIM:300953	RNF113A	7737	HP:0000348	High forehead
OMIM:612287	SLC9A3R1	9368	HP:0000787	Nephrolithiasis
OMIM:612287	SLC9A3R1	9368	HP:0002659	Increased susceptibility to fractures
OMIM:612287	SLC9A3R1	9368	HP:0002148	Hypophosphatemia
OMIM:612287	SLC9A3R1	9368	HP:0000006	Autosomal dominant inheritance
OMIM:612287	SLC9A3R1	9368	HP:0000939	Osteoporosis
OMIM:612287	SLC9A3R1	9368	HP:0000938	Osteopenia
OMIM:612287	SLC34A1	6569	HP:0000787	Nephrolithiasis
OMIM:612287	SLC34A1	6569	HP:0002659	Increased susceptibility to fractures
OMIM:612287	SLC34A1	6569	HP:0002148	Hypophosphatemia
OMIM:612287	SLC34A1	6569	HP:0000006	Autosomal dominant inheritance
OMIM:612287	SLC34A1	6569	HP:0000939	Osteoporosis
OMIM:612287	SLC34A1	6569	HP:0000938	Osteopenia
ORPHANET:1513	SOST	50964	HP:0000277	Abnormality of the mandible
ORPHANET:1513	SOST	50964	HP:0000256	Macrocephaly
ORPHANET:1513	SOST	50964	HP:0004322	Short stature
ORPHANET:1513	SOST	50964	HP:0000648	Optic atrophy
ORPHANET:1513	SOST	50964	HP:0005280	Depressed nasal bridge
ORPHANET:1513	SOST	50964	HP:0100543	Cognitive impairment
ORPHANET:1513	SOST	50964	HP:0004493	Craniofacial hyperostosis
ORPHANET:1513	SOST	50964	HP:0000405	Conductive hearing impairment
ORPHANET:1513	SOST	50964	HP:0000413	Atresia of the external auditory canal
ORPHANET:1513	SOST	50964	HP:0000772	Abnormality of the ribs
ORPHANET:1513	SOST	50964	HP:0002007	Frontal bossing
ORPHANET:1513	SOST	50964	HP:0000280	Coarse facial features
OMIM:277400	MMACHC	25974	HP:0000276	Long face
OMIM:277400	MMACHC	25974	HP:0001249	Intellectual disability
OMIM:277400	MMACHC	25974	HP:0000238	Hydrocephalus
OMIM:277400	MMACHC	25974	HP:0001942	Metabolic acidosis
OMIM:277400	MMACHC	25974	HP:0001508	Failure to thrive
OMIM:277400	MMACHC	25974	HP:0000726	Dementia
OMIM:277400	MMACHC	25974	HP:0000980	Pallor
OMIM:277400	MMACHC	25974	HP:0002120	Cerebral cortical atrophy
OMIM:277400	MMACHC	25974	HP:0000319	Smooth philtrum
OMIM:277400	MMACHC	25974	HP:0001907	Thromboembolism
OMIM:277400	MMACHC	25974	HP:0008872	Feeding difficulties in infancy
OMIM:277400	MMACHC	25974	HP:0007663	Reduced visual acuity
OMIM:277400	MMACHC	25974	HP:0001889	Megaloblastic anemia
OMIM:277400	MMACHC	25974	HP:0002912	Methylmalonic acidemia
OMIM:277400	MMACHC	25974	HP:0000083	Renal insufficiency
OMIM:277400	MMACHC	25974	HP:0001263	Global developmental delay
OMIM:277400	MMACHC	25974	HP:0001252	Muscular hypotonia
OMIM:277400	MMACHC	25974	HP:0002039	Anorexia
OMIM:277400	MMACHC	25974	HP:0000093	Proteinuria
OMIM:277400	MMACHC	25974	HP:0000007	Autosomal recessive inheritance
OMIM:277400	MMACHC	25974	HP:0000112	Nephropathy
OMIM:277400	MMACHC	25974	HP:0000639	Nystagmus
OMIM:277400	MMACHC	25974	HP:0001337	Tremor
OMIM:277400	MMACHC	25974	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:277400	MMACHC	25974	HP:0004372	Reduced consciousness/confusion
OMIM:277400	MMACHC	25974	HP:0001254	Lethargy
OMIM:277400	MMACHC	25974	HP:0000252	Microcephaly
OMIM:277400	MMACHC	25974	HP:0000400	Macrotia
OMIM:277400	MMACHC	25974	HP:0012120	Methylmalonic aciduria
OMIM:277400	MMACHC	25974	HP:0000348	High forehead
OMIM:277400	MMACHC	25974	HP:0000580	Pigmentary retinopathy
OMIM:277400	MMACHC	25974	HP:0005575	Hemolytic-uremic syndrome
OMIM:277400	MMACHC	25974	HP:0000790	Hematuria
OMIM:277400	MMACHC	25974	HP:0001250	Seizures
OMIM:277400	MMACHC	25974	HP:0001873	Thrombocytopenia
OMIM:277400	MMACHC	25974	HP:0003593	Infantile onset
OMIM:277400	MMACHC	25974	HP:0000369	Low-set ears
OMIM:277400	MMACHC	25974	HP:0000488	Retinopathy
OMIM:277400	MMACHC	25974	HP:0000505	Visual impairment
OMIM:277400	MMACHC	25974	HP:0001875	Neutropenia
OMIM:606002	SETX	23064	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606002	SETX	23064	HP:0001271	Polyneuropathy
OMIM:606002	SETX	23064	HP:0003828	Variable expressivity
OMIM:606002	SETX	23064	HP:0000639	Nystagmus
OMIM:606002	SETX	23064	HP:0003693	Distal amyotrophy
OMIM:606002	SETX	23064	HP:0000657	Oculomotor apraxia
OMIM:606002	SETX	23064	HP:0010702	Increased antibody level in blood
OMIM:606002	SETX	23064	HP:0001272	Cerebellar atrophy
OMIM:606002	SETX	23064	HP:0002066	Gait ataxia
OMIM:606002	SETX	23064	HP:0000486	Strabismus
OMIM:606002	SETX	23064	HP:0001337	Tremor
OMIM:606002	SETX	23064	HP:0000640	Gaze-evoked nystagmus
OMIM:606002	SETX	23064	HP:0002070	Limb ataxia
OMIM:606002	SETX	23064	HP:0003676	Progressive
OMIM:606002	SETX	23064	HP:0001284	Areflexia
OMIM:606002	SETX	23064	HP:0003431	Decreased motor nerve conduction velocity
OMIM:606002	SETX	23064	HP:0001260	Dysarthria
OMIM:606002	SETX	23064	HP:0002015	Dysphagia
OMIM:606002	SETX	23064	HP:0001332	Dystonia
OMIM:606002	SETX	23064	HP:0001265	Hyporeflexia
OMIM:606002	SETX	23064	HP:0000007	Autosomal recessive inheritance
OMIM:606002	SETX	23064	HP:0003477	Peripheral axonal neuropathy
OMIM:606002	SETX	23064	HP:0001761	Pes cavus
OMIM:606002	SETX	23064	HP:0002072	Chorea
OMIM:606002	SETX	23064	HP:0007256	Abnormal pyramidal signs
OMIM:606002	SETX	23064	HP:0002460	Distal muscle weakness
OMIM:606002	SETX	23064	HP:0002650	Scoliosis
OMIM:606002	PIK3R5	23533	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606002	PIK3R5	23533	HP:0001271	Polyneuropathy
OMIM:606002	PIK3R5	23533	HP:0003828	Variable expressivity
OMIM:606002	PIK3R5	23533	HP:0000639	Nystagmus
OMIM:606002	PIK3R5	23533	HP:0003693	Distal amyotrophy
OMIM:606002	PIK3R5	23533	HP:0000657	Oculomotor apraxia
OMIM:606002	PIK3R5	23533	HP:0010702	Increased antibody level in blood
OMIM:606002	PIK3R5	23533	HP:0001272	Cerebellar atrophy
OMIM:606002	PIK3R5	23533	HP:0002066	Gait ataxia
OMIM:606002	PIK3R5	23533	HP:0000486	Strabismus
OMIM:606002	PIK3R5	23533	HP:0001337	Tremor
OMIM:606002	PIK3R5	23533	HP:0000640	Gaze-evoked nystagmus
OMIM:606002	PIK3R5	23533	HP:0002070	Limb ataxia
OMIM:606002	PIK3R5	23533	HP:0003676	Progressive
OMIM:606002	PIK3R5	23533	HP:0001284	Areflexia
OMIM:606002	PIK3R5	23533	HP:0003431	Decreased motor nerve conduction velocity
OMIM:606002	PIK3R5	23533	HP:0001260	Dysarthria
OMIM:606002	PIK3R5	23533	HP:0002015	Dysphagia
OMIM:606002	PIK3R5	23533	HP:0001332	Dystonia
OMIM:606002	PIK3R5	23533	HP:0001265	Hyporeflexia
OMIM:606002	PIK3R5	23533	HP:0000007	Autosomal recessive inheritance
OMIM:606002	PIK3R5	23533	HP:0003477	Peripheral axonal neuropathy
OMIM:606002	PIK3R5	23533	HP:0001761	Pes cavus
OMIM:606002	PIK3R5	23533	HP:0002072	Chorea
OMIM:606002	PIK3R5	23533	HP:0007256	Abnormal pyramidal signs
OMIM:606002	PIK3R5	23533	HP:0002460	Distal muscle weakness
OMIM:606002	PIK3R5	23533	HP:0002650	Scoliosis
OMIM:162900	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:162900	FGFR3	2261	HP:0001054	Numerous nevi
OMIM:162900	FGFR3	2261	HP:0000995	Melanocytic nevus
OMIM:162900	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:162900	PIK3CA	5290	HP:0001054	Numerous nevi
OMIM:162900	PIK3CA	5290	HP:0000995	Melanocytic nevus
OMIM:162900	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:162900	NRAS	4893	HP:0001054	Numerous nevi
OMIM:162900	NRAS	4893	HP:0000995	Melanocytic nevus
OMIM:221200	SLITRK6	84189	HP:0000405	Conductive hearing impairment
OMIM:221200	SLITRK6	84189	HP:0001249	Intellectual disability
OMIM:221200	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:221200	SLITRK6	84189	HP:0000093	Proteinuria
OMIM:221200	SLITRK6	84189	HP:0011003	Severe Myopia
OMIM:221200	SLITRK6	84189	HP:0000545	Myopia
OMIM:221200	SLITRK6	84189	HP:0000790	Hematuria
ORPHANET:2833	FBN1	2200	HP:0000486	Strabismus
ORPHANET:2833	FBN1	2200	HP:0007328	Impaired pain sensation
ORPHANET:2833	FBN1	2200	HP:0100578	Lipoatrophy
ORPHANET:2833	FBN1	2200	HP:0000822	Hypertension
ORPHANET:2833	FBN1	2200	HP:0100679	Lack of skin elasticity
ORPHANET:2833	FBN1	2200	HP:0000501	Glaucoma
ORPHANET:2833	FBN1	2200	HP:0000787	Nephrolithiasis
ORPHANET:2833	FBN1	2200	HP:0000541	Retinal detachment
ORPHANET:2833	FBN1	2200	HP:0004322	Short stature
ORPHANET:2833	FBN1	2200	HP:0001324	Muscle weakness
ORPHANET:2833	FBN1	2200	HP:0003202	Skeletal muscle atrophy
ORPHANET:2833	FBN1	2200	HP:0003119	Abnormality of lipid metabolism
ORPHANET:2833	FBN1	2200	HP:0001376	Limitation of joint mobility
ORPHANET:2833	FBN1	2200	HP:0005978	Type II diabetes mellitus
ORPHANET:2833	FBN1	2200	HP:0000272	Malar flattening
ORPHANET:2833	FBN1	2200	HP:0000407	Sensorineural hearing impairment
ORPHANET:2833	FBN1	2200	HP:0001072	Thickened skin
ORPHANET:2833	FBN1	2200	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:613353	SH3TC2	79628	HP:0000006	Autosomal dominant inheritance
OMIM:613353	SH3TC2	79628	HP:0003477	Peripheral axonal neuropathy
OMIM:613353	SH3TC2	79628	HP:0001271	Polyneuropathy
OMIM:239000	TNFRSF11B	4982	HP:0000648	Optic atrophy
OMIM:239000	TNFRSF11B	4982	HP:0001102	Angioid streaks of the retina
OMIM:239000	TNFRSF11B	4982	HP:0000365	Hearing impairment
OMIM:239000	TNFRSF11B	4982	HP:0002149	Hyperuricemia
OMIM:239000	TNFRSF11B	4982	HP:0000822	Hypertension
OMIM:239000	TNFRSF11B	4982	HP:0000939	Osteoporosis
OMIM:239000	TNFRSF11B	4982	HP:0000546	Retinal degeneration
OMIM:239000	TNFRSF11B	4982	HP:0000164	Abnormality of the teeth
OMIM:239000	TNFRSF11B	4982	HP:0006487	Bowing of the long bones
OMIM:239000	TNFRSF11B	4982	HP:0000995	Melanocytic nevus
OMIM:239000	TNFRSF11B	4982	HP:0004349	Reduced bone mineral density
OMIM:239000	TNFRSF11B	4982	HP:0001324	Muscle weakness
OMIM:239000	TNFRSF11B	4982	HP:0000256	Macrocephaly
OMIM:239000	TNFRSF11B	4982	HP:0004493	Craniofacial hyperostosis
OMIM:239000	TNFRSF11B	4982	HP:0004322	Short stature
OMIM:239000	TNFRSF11B	4982	HP:0002684	Thickened calvaria
OMIM:239000	TNFRSF11B	4982	HP:0000007	Autosomal recessive inheritance
OMIM:239000	TNFRSF11B	4982	HP:0007703	Abnormality of retinal pigmentation
OMIM:239000	TNFRSF11B	4982	HP:0002757	Recurrent fractures
OMIM:239000	TNFRSF11B	4982	HP:0000889	Abnormality of the clavicle
OMIM:239000	TNFRSF11B	4982	HP:0000768	Pectus carinatum
OMIM:239000	TNFRSF11B	4982	HP:0002905	Hyperphosphatemia
OMIM:616185	MCM9	254394	HP:0002750	Delayed skeletal maturation
OMIM:616185	MCM9	254394	HP:0004325	Decreased body weight
OMIM:616185	MCM9	254394	HP:0004322	Short stature
OMIM:616185	MCM9	254394	HP:0000786	Primary amenorrhea
OMIM:608653	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:608653	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:608653	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:608653	BSND	7809	HP:0000365	Hearing impairment
OMIM:608653	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:608653	ESPN	83715	HP:0000365	Hearing impairment
OMIM:608653	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:608653	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:608653	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:608653	OTOA	146183	HP:0000365	Hearing impairment
OMIM:608653	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:608653	GJA1	2697	HP:0000365	Hearing impairment
OMIM:608653	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:608653	MET	4233	HP:0000365	Hearing impairment
OMIM:608653	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:608653	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:608653	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:608653	HGF	3082	HP:0000365	Hearing impairment
OMIM:608653	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:608653	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:608653	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:608653	EPS8	2059	HP:0000365	Hearing impairment
OMIM:608653	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:608653	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:608653	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:608653	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:608653	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:608653	GJB2	2706	HP:0000365	Hearing impairment
OMIM:608653	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:608653	GJB3	2707	HP:0000365	Hearing impairment
OMIM:608653	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:608653	CABP2	51475	HP:0000365	Hearing impairment
OMIM:608653	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:608653	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:608653	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:608653	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:608653	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:608653	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:608653	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:608653	CIB2	10518	HP:0000365	Hearing impairment
OMIM:608653	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:608653	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:608653	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:608653	KARS	3735	HP:0000365	Hearing impairment
OMIM:608653	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:608653	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:608653	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:608653	TMC1	117531	HP:0000365	Hearing impairment
OMIM:608653	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:608653	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:608653	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:608653	OTOF	9381	HP:0000365	Hearing impairment
OMIM:608653	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:608653	MYO6	4646	HP:0000365	Hearing impairment
OMIM:608653	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:608653	TMIE	259236	HP:0000365	Hearing impairment
OMIM:608653	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:608653	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:608653	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:608653	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:608653	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:608653	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:608653	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:608653	TPRN	286262	HP:0000365	Hearing impairment
OMIM:608653	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:608653	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:608653	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:608653	GJB6	10804	HP:0000365	Hearing impairment
OMIM:608653	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:608653	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:608653	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:608653	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:608653	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:608653	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:608653	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:608653	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:608653	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:608653	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:608653	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:608653	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:608653	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:608653	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:608653	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:608653	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:608653	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:608653	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:608653	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:608653	CDH23	64072	HP:0000365	Hearing impairment
OMIM:608653	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:608653	RDX	5962	HP:0000365	Hearing impairment
OMIM:608653	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:608653	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:608653	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:608653	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:608653	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:608653	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:608653	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:608653	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:608653	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:608653	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:608653	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:608653	STRC	161497	HP:0000365	Hearing impairment
OMIM:608653	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:608653	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:608653	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:608653	TECTA	7007	HP:0000365	Hearing impairment
OMIM:608653	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:608653	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:608653	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:608653	USH1C	10083	HP:0000365	Hearing impairment
OMIM:608653	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:608653	ADCY1	107	HP:0000365	Hearing impairment
OMIM:608653	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:608653	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:608653	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:608653	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:608653	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:608653	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:608653	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:608653	OTOG	340990	HP:0000365	Hearing impairment
OMIM:300946	TSR2	90121	HP:0000405	Conductive hearing impairment
OMIM:300946	TSR2	90121	HP:0011800	Hypoplasia of midface
OMIM:300946	TSR2	90121	HP:0000347	Micrognathia
OMIM:300946	TSR2	90121	HP:0001972	Macrocytic anemia
OMIM:300946	TSR2	90121	HP:0000494	Downslanted palpebral fissures
OMIM:300946	TSR2	90121	HP:0008551	Microtia
OMIM:300946	RPS17	6218	HP:0000405	Conductive hearing impairment
OMIM:300946	RPS17	6218	HP:0011800	Hypoplasia of midface
OMIM:300946	RPS17	6218	HP:0000347	Micrognathia
OMIM:300946	RPS17	6218	HP:0001972	Macrocytic anemia
OMIM:300946	RPS17	6218	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPS17	6218	HP:0008551	Microtia
OMIM:300946	RPL26	6154	HP:0000405	Conductive hearing impairment
OMIM:300946	RPL26	6154	HP:0011800	Hypoplasia of midface
OMIM:300946	RPL26	6154	HP:0000347	Micrognathia
OMIM:300946	RPL26	6154	HP:0001972	Macrocytic anemia
OMIM:300946	RPL26	6154	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPL26	6154	HP:0008551	Microtia
OMIM:300946	RPL5	6125	HP:0000405	Conductive hearing impairment
OMIM:300946	RPL5	6125	HP:0011800	Hypoplasia of midface
OMIM:300946	RPL5	6125	HP:0000347	Micrognathia
OMIM:300946	RPL5	6125	HP:0001972	Macrocytic anemia
OMIM:300946	RPL5	6125	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPL5	6125	HP:0008551	Microtia
OMIM:300946	RPS19	6223	HP:0000405	Conductive hearing impairment
OMIM:300946	RPS19	6223	HP:0011800	Hypoplasia of midface
OMIM:300946	RPS19	6223	HP:0000347	Micrognathia
OMIM:300946	RPS19	6223	HP:0001972	Macrocytic anemia
OMIM:300946	RPS19	6223	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPS19	6223	HP:0008551	Microtia
OMIM:300946	RPS24	6229	HP:0000405	Conductive hearing impairment
OMIM:300946	RPS24	6229	HP:0011800	Hypoplasia of midface
OMIM:300946	RPS24	6229	HP:0000347	Micrognathia
OMIM:300946	RPS24	6229	HP:0001972	Macrocytic anemia
OMIM:300946	RPS24	6229	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPS24	6229	HP:0008551	Microtia
OMIM:300946	RPL35A	6165	HP:0000405	Conductive hearing impairment
OMIM:300946	RPL35A	6165	HP:0011800	Hypoplasia of midface
OMIM:300946	RPL35A	6165	HP:0000347	Micrognathia
OMIM:300946	RPL35A	6165	HP:0001972	Macrocytic anemia
OMIM:300946	RPL35A	6165	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPL35A	6165	HP:0008551	Microtia
OMIM:300946	RPL11	6135	HP:0000405	Conductive hearing impairment
OMIM:300946	RPL11	6135	HP:0011800	Hypoplasia of midface
OMIM:300946	RPL11	6135	HP:0000347	Micrognathia
OMIM:300946	RPL11	6135	HP:0001972	Macrocytic anemia
OMIM:300946	RPL11	6135	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPL11	6135	HP:0008551	Microtia
OMIM:300946	RPS26	6231	HP:0000405	Conductive hearing impairment
OMIM:300946	RPS26	6231	HP:0011800	Hypoplasia of midface
OMIM:300946	RPS26	6231	HP:0000347	Micrognathia
OMIM:300946	RPS26	6231	HP:0001972	Macrocytic anemia
OMIM:300946	RPS26	6231	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPS26	6231	HP:0008551	Microtia
OMIM:300946	RPS7	6201	HP:0000405	Conductive hearing impairment
OMIM:300946	RPS7	6201	HP:0011800	Hypoplasia of midface
OMIM:300946	RPS7	6201	HP:0000347	Micrognathia
OMIM:300946	RPS7	6201	HP:0001972	Macrocytic anemia
OMIM:300946	RPS7	6201	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPS7	6201	HP:0008551	Microtia
OMIM:300946	RPL15	6138	HP:0000405	Conductive hearing impairment
OMIM:300946	RPL15	6138	HP:0011800	Hypoplasia of midface
OMIM:300946	RPL15	6138	HP:0000347	Micrognathia
OMIM:300946	RPL15	6138	HP:0001972	Macrocytic anemia
OMIM:300946	RPL15	6138	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPL15	6138	HP:0008551	Microtia
OMIM:300946	RPS28	6234	HP:0000405	Conductive hearing impairment
OMIM:300946	RPS28	6234	HP:0011800	Hypoplasia of midface
OMIM:300946	RPS28	6234	HP:0000347	Micrognathia
OMIM:300946	RPS28	6234	HP:0001972	Macrocytic anemia
OMIM:300946	RPS28	6234	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPS28	6234	HP:0008551	Microtia
OMIM:300946	RPS29	6235	HP:0000405	Conductive hearing impairment
OMIM:300946	RPS29	6235	HP:0011800	Hypoplasia of midface
OMIM:300946	RPS29	6235	HP:0000347	Micrognathia
OMIM:300946	RPS29	6235	HP:0001972	Macrocytic anemia
OMIM:300946	RPS29	6235	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPS29	6235	HP:0008551	Microtia
OMIM:300946	RPS10	6204	HP:0000405	Conductive hearing impairment
OMIM:300946	RPS10	6204	HP:0011800	Hypoplasia of midface
OMIM:300946	RPS10	6204	HP:0000347	Micrognathia
OMIM:300946	RPS10	6204	HP:0001972	Macrocytic anemia
OMIM:300946	RPS10	6204	HP:0000494	Downslanted palpebral fissures
OMIM:300946	RPS10	6204	HP:0008551	Microtia
OMIM:300946	GATA1	2623	HP:0000405	Conductive hearing impairment
OMIM:300946	GATA1	2623	HP:0011800	Hypoplasia of midface
OMIM:300946	GATA1	2623	HP:0000347	Micrognathia
OMIM:300946	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:300946	GATA1	2623	HP:0000494	Downslanted palpebral fissures
OMIM:300946	GATA1	2623	HP:0008551	Microtia
OMIM:608758	MYL2	4633	HP:0000006	Autosomal dominant inheritance
OMIM:608758	MYL2	4633	HP:0001639	Hypertrophic cardiomyopathy
OMIM:608758	MYL2	4633	HP:0005144	Left ventricular septal hypertrophy
OMIM:608758	MYL2	4633	HP:0004756	Ventricular tachycardia
OMIM:603965	TRPC6	7225	HP:0000093	Proteinuria
OMIM:603965	TRPC6	7225	HP:0012622	Chronic kidney disease
OMIM:603965	TRPC6	7225	HP:0000097	Focal segmental glomerulosclerosis
OMIM:603965	TRPC6	7225	HP:0000100	Nephrotic syndrome
OMIM:616192	DNAJC3	5611	HP:0003487	Babinski sign
OMIM:616192	DNAJC3	5611	HP:0001272	Cerebellar atrophy
OMIM:616192	DNAJC3	5611	HP:0000407	Sensorineural hearing impairment
OMIM:616192	DNAJC3	5611	HP:0002059	Cerebral atrophy
OMIM:616192	DNAJC3	5611	HP:0002066	Gait ataxia
OMIM:616192	DNAJC3	5611	HP:0004322	Short stature
OMIM:608908	LRPAP1	4043	HP:0000006	Autosomal dominant inheritance
OMIM:608908	LRPAP1	4043	HP:0000545	Myopia
OMIM:608908	SCO2	9997	HP:0000006	Autosomal dominant inheritance
OMIM:608908	SCO2	9997	HP:0000545	Myopia
OMIM:608908	P3H2	55214	HP:0000006	Autosomal dominant inheritance
OMIM:608908	P3H2	55214	HP:0000545	Myopia
OMIM:277590	EZH2	2146	HP:0001263	Global developmental delay
OMIM:277590	EZH2	2146	HP:0000028	Cryptorchidism
OMIM:277590	EZH2	2146	HP:0001252	Muscular hypotonia
OMIM:277590	EZH2	2146	HP:0012385	Camptodactyly
OMIM:277590	EZH2	2146	HP:0001840	Metatarsus adductus
OMIM:277590	EZH2	2146	HP:0000708	Behavioral abnormality
OMIM:277590	EZH2	2146	HP:0000400	Macrotia
OMIM:277590	EZH2	2146	HP:0002808	Kyphosis
OMIM:277590	EZH2	2146	HP:0000278	Retrognathia
OMIM:277590	EZH2	2146	HP:0005616	Accelerated skeletal maturation
OMIM:277590	EZH2	2146	HP:0000494	Downslanted palpebral fissures
OMIM:277590	EZH2	2146	HP:0008070	Sparse hair
OMIM:277590	EZH2	2146	HP:0002673	Coxa valga
OMIM:277590	EZH2	2146	HP:0009473	Joint contracture of the hand
OMIM:277590	EZH2	2146	HP:0001382	Joint hypermobility
OMIM:277590	EZH2	2146	HP:0008736	Hypoplasia of penis
OMIM:277590	EZH2	2146	HP:0000316	Hypertelorism
OMIM:277590	EZH2	2146	HP:0001761	Pes cavus
OMIM:277590	EZH2	2146	HP:0000311	Round face
OMIM:277590	EZH2	2146	HP:0000773	Short ribs
OMIM:277590	EZH2	2146	HP:0001257	Spasticity
OMIM:277590	EZH2	2146	HP:0009466	Radial deviation of finger
OMIM:277590	EZH2	2146	HP:0000347	Micrognathia
OMIM:277590	EZH2	2146	HP:0001845	Overlapping toe
OMIM:277590	EZH2	2146	HP:0001249	Intellectual disability
OMIM:277590	EZH2	2146	HP:0001800	Hypoplastic toenails
OMIM:277590	EZH2	2146	HP:0006101	Finger syndactyly
OMIM:277590	EZH2	2146	HP:0000098	Tall stature
OMIM:277590	EZH2	2146	HP:0001762	Talipes equinovarus
OMIM:277590	EZH2	2146	HP:0005280	Depressed nasal bridge
OMIM:277590	EZH2	2146	HP:0001376	Limitation of joint mobility
OMIM:277590	EZH2	2146	HP:0001852	Sandal gap
OMIM:277590	EZH2	2146	HP:0000343	Long philtrum
OMIM:277590	EZH2	2146	HP:0002650	Scoliosis
OMIM:277590	EZH2	2146	HP:0001276	Hypertonia
OMIM:277590	EZH2	2146	HP:0000006	Autosomal dominant inheritance
OMIM:277590	EZH2	2146	HP:0000023	Inguinal hernia
OMIM:277590	EZH2	2146	HP:0002213	Fine hair
OMIM:277590	EZH2	2146	HP:0009602	Abnormality of thumb phalanx
OMIM:277590	EZH2	2146	HP:0001537	Umbilical hernia
OMIM:277590	EZH2	2146	HP:0000750	Delayed speech and language development
OMIM:277590	EZH2	2146	HP:0001176	Large hands
OMIM:277590	EZH2	2146	HP:0000256	Macrocephaly
OMIM:277590	EZH2	2146	HP:0004299	Hernia of the abdominal wall
OMIM:277590	EZH2	2146	HP:0030084	Clinodactyly
OMIM:277590	EZH2	2146	HP:0000337	Broad forehead
OMIM:277590	EZH2	2146	HP:0001816	Thin nail
OMIM:277590	EZH2	2146	HP:0001883	Talipes
OMIM:277590	EZH2	2146	HP:0001250	Seizures
OMIM:277590	EZH2	2146	HP:0000973	Cutis laxa
OMIM:277590	EZH2	2146	HP:0100490	Camptodactyly of finger
OMIM:277590	EZH2	2146	HP:0001231	Abnormality of the fingernails
OMIM:277590	EZH2	2146	HP:0000368	Low-set, posteriorly rotated ears
OMIM:277590	EZH2	2146	HP:0001260	Dysarthria
OMIM:277590	EZH2	2146	HP:0011304	Broad thumb
OMIM:277590	EZH2	2146	HP:0000486	Strabismus
OMIM:277590	EZH2	2146	HP:0000303	Mandibular prognathia
OMIM:277590	EZH2	2146	HP:0000286	Epicanthus
OMIM:277590	EZH2	2146	HP:0100543	Cognitive impairment
OMIM:277590	NSD1	64324	HP:0001263	Global developmental delay
OMIM:277590	NSD1	64324	HP:0000028	Cryptorchidism
OMIM:277590	NSD1	64324	HP:0001252	Muscular hypotonia
OMIM:277590	NSD1	64324	HP:0012385	Camptodactyly
OMIM:277590	NSD1	64324	HP:0001840	Metatarsus adductus
OMIM:277590	NSD1	64324	HP:0000708	Behavioral abnormality
OMIM:277590	NSD1	64324	HP:0000400	Macrotia
OMIM:277590	NSD1	64324	HP:0002808	Kyphosis
OMIM:277590	NSD1	64324	HP:0000278	Retrognathia
OMIM:277590	NSD1	64324	HP:0005616	Accelerated skeletal maturation
OMIM:277590	NSD1	64324	HP:0000494	Downslanted palpebral fissures
OMIM:277590	NSD1	64324	HP:0008070	Sparse hair
OMIM:277590	NSD1	64324	HP:0002673	Coxa valga
OMIM:277590	NSD1	64324	HP:0009473	Joint contracture of the hand
OMIM:277590	NSD1	64324	HP:0001382	Joint hypermobility
OMIM:277590	NSD1	64324	HP:0008736	Hypoplasia of penis
OMIM:277590	NSD1	64324	HP:0000316	Hypertelorism
OMIM:277590	NSD1	64324	HP:0001761	Pes cavus
OMIM:277590	NSD1	64324	HP:0000311	Round face
OMIM:277590	NSD1	64324	HP:0000773	Short ribs
OMIM:277590	NSD1	64324	HP:0001257	Spasticity
OMIM:277590	NSD1	64324	HP:0009466	Radial deviation of finger
OMIM:277590	NSD1	64324	HP:0000347	Micrognathia
OMIM:277590	NSD1	64324	HP:0001845	Overlapping toe
OMIM:277590	NSD1	64324	HP:0001249	Intellectual disability
OMIM:277590	NSD1	64324	HP:0001800	Hypoplastic toenails
OMIM:277590	NSD1	64324	HP:0006101	Finger syndactyly
OMIM:277590	NSD1	64324	HP:0000098	Tall stature
OMIM:277590	NSD1	64324	HP:0001762	Talipes equinovarus
OMIM:277590	NSD1	64324	HP:0005280	Depressed nasal bridge
OMIM:277590	NSD1	64324	HP:0001376	Limitation of joint mobility
OMIM:277590	NSD1	64324	HP:0001852	Sandal gap
OMIM:277590	NSD1	64324	HP:0000343	Long philtrum
OMIM:277590	NSD1	64324	HP:0002650	Scoliosis
OMIM:277590	NSD1	64324	HP:0001276	Hypertonia
OMIM:277590	NSD1	64324	HP:0000006	Autosomal dominant inheritance
OMIM:277590	NSD1	64324	HP:0000023	Inguinal hernia
OMIM:277590	NSD1	64324	HP:0002213	Fine hair
OMIM:277590	NSD1	64324	HP:0009602	Abnormality of thumb phalanx
OMIM:277590	NSD1	64324	HP:0001537	Umbilical hernia
OMIM:277590	NSD1	64324	HP:0000750	Delayed speech and language development
OMIM:277590	NSD1	64324	HP:0001176	Large hands
OMIM:277590	NSD1	64324	HP:0000256	Macrocephaly
OMIM:277590	NSD1	64324	HP:0004299	Hernia of the abdominal wall
OMIM:277590	NSD1	64324	HP:0030084	Clinodactyly
OMIM:277590	NSD1	64324	HP:0000337	Broad forehead
OMIM:277590	NSD1	64324	HP:0001816	Thin nail
OMIM:277590	NSD1	64324	HP:0001883	Talipes
OMIM:277590	NSD1	64324	HP:0001250	Seizures
OMIM:277590	NSD1	64324	HP:0000973	Cutis laxa
OMIM:277590	NSD1	64324	HP:0100490	Camptodactyly of finger
OMIM:277590	NSD1	64324	HP:0001231	Abnormality of the fingernails
OMIM:277590	NSD1	64324	HP:0000368	Low-set, posteriorly rotated ears
OMIM:277590	NSD1	64324	HP:0001260	Dysarthria
OMIM:277590	NSD1	64324	HP:0011304	Broad thumb
OMIM:277590	NSD1	64324	HP:0000486	Strabismus
OMIM:277590	NSD1	64324	HP:0000303	Mandibular prognathia
OMIM:277590	NSD1	64324	HP:0000286	Epicanthus
OMIM:277590	NSD1	64324	HP:0100543	Cognitive impairment
OMIM:612843	MBTPS2	51360	HP:0000006	Autosomal dominant inheritance
OMIM:612843	MBTPS2	51360	HP:0000535	Sparse eyebrow
OMIM:612843	MBTPS2	51360	HP:0001425	Heterogeneous
OMIM:612843	MBTPS2	51360	HP:0000653	Sparse eyelashes
OMIM:612843	MBTPS2	51360	HP:0000670	Carious teeth
OMIM:612843	MBTPS2	51360	HP:0002164	Nail dysplasia
OMIM:612843	MBTPS2	51360	HP:0000509	Conjunctivitis
OMIM:612843	MBTPS2	51360	HP:0000613	Photophobia
OMIM:612843	MBTPS2	51360	HP:0001596	Alopecia
OMIM:612843	MBTPS2	51360	HP:0008404	Nail dystrophy
OMIM:612843	MBTPS2	51360	HP:0000498	Blepharitis
OMIM:612843	MBTPS2	51360	HP:0006297	Hypoplasia of dental enamel
OMIM:612843	MBTPS2	51360	HP:0000491	Keratitis
OMIM:612843	SAT1	6303	HP:0000006	Autosomal dominant inheritance
OMIM:612843	SAT1	6303	HP:0000535	Sparse eyebrow
OMIM:612843	SAT1	6303	HP:0001425	Heterogeneous
OMIM:612843	SAT1	6303	HP:0000653	Sparse eyelashes
OMIM:612843	SAT1	6303	HP:0000670	Carious teeth
OMIM:612843	SAT1	6303	HP:0002164	Nail dysplasia
OMIM:612843	SAT1	6303	HP:0000509	Conjunctivitis
OMIM:612843	SAT1	6303	HP:0000613	Photophobia
OMIM:612843	SAT1	6303	HP:0001596	Alopecia
OMIM:612843	SAT1	6303	HP:0008404	Nail dystrophy
OMIM:612843	SAT1	6303	HP:0000498	Blepharitis
OMIM:612843	SAT1	6303	HP:0006297	Hypoplasia of dental enamel
OMIM:612843	SAT1	6303	HP:0000491	Keratitis
OMIM:614696	TREM2	54209	HP:0002380	Fasciculations
OMIM:614696	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:614696	TREM2	54209	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	TREM2	54209	HP:0003202	Skeletal muscle atrophy
OMIM:614696	TREM2	54209	HP:0003581	Adult onset
OMIM:614696	TREM2	54209	HP:0001260	Dysarthria
OMIM:614696	TREM2	54209	HP:0002483	Bulbar signs
OMIM:614696	TREM2	54209	HP:0001265	Hyporeflexia
OMIM:614696	TREM2	54209	HP:0001284	Areflexia
OMIM:614696	TREM2	54209	HP:0001348	Brisk reflexes
OMIM:614696	TREM2	54209	HP:0003678	Rapidly progressive
OMIM:614696	TREM2	54209	HP:0002015	Dysphagia
OMIM:614696	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	TREM2	54209	HP:0003487	Babinski sign
OMIM:614696	VAPB	9217	HP:0002380	Fasciculations
OMIM:614696	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:614696	VAPB	9217	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	VAPB	9217	HP:0003202	Skeletal muscle atrophy
OMIM:614696	VAPB	9217	HP:0003581	Adult onset
OMIM:614696	VAPB	9217	HP:0001260	Dysarthria
OMIM:614696	VAPB	9217	HP:0002483	Bulbar signs
OMIM:614696	VAPB	9217	HP:0001265	Hyporeflexia
OMIM:614696	VAPB	9217	HP:0001284	Areflexia
OMIM:614696	VAPB	9217	HP:0001348	Brisk reflexes
OMIM:614696	VAPB	9217	HP:0003678	Rapidly progressive
OMIM:614696	VAPB	9217	HP:0002015	Dysphagia
OMIM:614696	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	VAPB	9217	HP:0003487	Babinski sign
OMIM:614696	PON1	5444	HP:0002380	Fasciculations
OMIM:614696	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:614696	PON1	5444	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	PON1	5444	HP:0003202	Skeletal muscle atrophy
OMIM:614696	PON1	5444	HP:0003581	Adult onset
OMIM:614696	PON1	5444	HP:0001260	Dysarthria
OMIM:614696	PON1	5444	HP:0002483	Bulbar signs
OMIM:614696	PON1	5444	HP:0001265	Hyporeflexia
OMIM:614696	PON1	5444	HP:0001284	Areflexia
OMIM:614696	PON1	5444	HP:0001348	Brisk reflexes
OMIM:614696	PON1	5444	HP:0003678	Rapidly progressive
OMIM:614696	PON1	5444	HP:0002015	Dysphagia
OMIM:614696	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	PON1	5444	HP:0003487	Babinski sign
OMIM:614696	PON2	5445	HP:0002380	Fasciculations
OMIM:614696	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:614696	PON2	5445	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	PON2	5445	HP:0003202	Skeletal muscle atrophy
OMIM:614696	PON2	5445	HP:0003581	Adult onset
OMIM:614696	PON2	5445	HP:0001260	Dysarthria
OMIM:614696	PON2	5445	HP:0002483	Bulbar signs
OMIM:614696	PON2	5445	HP:0001265	Hyporeflexia
OMIM:614696	PON2	5445	HP:0001284	Areflexia
OMIM:614696	PON2	5445	HP:0001348	Brisk reflexes
OMIM:614696	PON2	5445	HP:0003678	Rapidly progressive
OMIM:614696	PON2	5445	HP:0002015	Dysphagia
OMIM:614696	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	PON2	5445	HP:0003487	Babinski sign
OMIM:614696	PON3	5446	HP:0002380	Fasciculations
OMIM:614696	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:614696	PON3	5446	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	PON3	5446	HP:0003202	Skeletal muscle atrophy
OMIM:614696	PON3	5446	HP:0003581	Adult onset
OMIM:614696	PON3	5446	HP:0001260	Dysarthria
OMIM:614696	PON3	5446	HP:0002483	Bulbar signs
OMIM:614696	PON3	5446	HP:0001265	Hyporeflexia
OMIM:614696	PON3	5446	HP:0001284	Areflexia
OMIM:614696	PON3	5446	HP:0001348	Brisk reflexes
OMIM:614696	PON3	5446	HP:0003678	Rapidly progressive
OMIM:614696	PON3	5446	HP:0002015	Dysphagia
OMIM:614696	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	PON3	5446	HP:0003487	Babinski sign
OMIM:614696	NEFH	4744	HP:0002380	Fasciculations
OMIM:614696	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:614696	NEFH	4744	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	NEFH	4744	HP:0003202	Skeletal muscle atrophy
OMIM:614696	NEFH	4744	HP:0003581	Adult onset
OMIM:614696	NEFH	4744	HP:0001260	Dysarthria
OMIM:614696	NEFH	4744	HP:0002483	Bulbar signs
OMIM:614696	NEFH	4744	HP:0001265	Hyporeflexia
OMIM:614696	NEFH	4744	HP:0001284	Areflexia
OMIM:614696	NEFH	4744	HP:0001348	Brisk reflexes
OMIM:614696	NEFH	4744	HP:0003678	Rapidly progressive
OMIM:614696	NEFH	4744	HP:0002015	Dysphagia
OMIM:614696	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	NEFH	4744	HP:0003487	Babinski sign
OMIM:614696	DAO	1610	HP:0002380	Fasciculations
OMIM:614696	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:614696	DAO	1610	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	DAO	1610	HP:0003202	Skeletal muscle atrophy
OMIM:614696	DAO	1610	HP:0003581	Adult onset
OMIM:614696	DAO	1610	HP:0001260	Dysarthria
OMIM:614696	DAO	1610	HP:0002483	Bulbar signs
OMIM:614696	DAO	1610	HP:0001265	Hyporeflexia
OMIM:614696	DAO	1610	HP:0001284	Areflexia
OMIM:614696	DAO	1610	HP:0001348	Brisk reflexes
OMIM:614696	DAO	1610	HP:0003678	Rapidly progressive
OMIM:614696	DAO	1610	HP:0002015	Dysphagia
OMIM:614696	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	DAO	1610	HP:0003487	Babinski sign
OMIM:614696	TARDBP	23435	HP:0002380	Fasciculations
OMIM:614696	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:614696	TARDBP	23435	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:614696	TARDBP	23435	HP:0003581	Adult onset
OMIM:614696	TARDBP	23435	HP:0001260	Dysarthria
OMIM:614696	TARDBP	23435	HP:0002483	Bulbar signs
OMIM:614696	TARDBP	23435	HP:0001265	Hyporeflexia
OMIM:614696	TARDBP	23435	HP:0001284	Areflexia
OMIM:614696	TARDBP	23435	HP:0001348	Brisk reflexes
OMIM:614696	TARDBP	23435	HP:0003678	Rapidly progressive
OMIM:614696	TARDBP	23435	HP:0002015	Dysphagia
OMIM:614696	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	TARDBP	23435	HP:0003487	Babinski sign
OMIM:614696	PPARGC1A	10891	HP:0002380	Fasciculations
OMIM:614696	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:614696	PPARGC1A	10891	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	PPARGC1A	10891	HP:0003202	Skeletal muscle atrophy
OMIM:614696	PPARGC1A	10891	HP:0003581	Adult onset
OMIM:614696	PPARGC1A	10891	HP:0001260	Dysarthria
OMIM:614696	PPARGC1A	10891	HP:0002483	Bulbar signs
OMIM:614696	PPARGC1A	10891	HP:0001265	Hyporeflexia
OMIM:614696	PPARGC1A	10891	HP:0001284	Areflexia
OMIM:614696	PPARGC1A	10891	HP:0001348	Brisk reflexes
OMIM:614696	PPARGC1A	10891	HP:0003678	Rapidly progressive
OMIM:614696	PPARGC1A	10891	HP:0002015	Dysphagia
OMIM:614696	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	PPARGC1A	10891	HP:0003487	Babinski sign
OMIM:614696	ERBB4	2066	HP:0002380	Fasciculations
OMIM:614696	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:614696	ERBB4	2066	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	ERBB4	2066	HP:0003202	Skeletal muscle atrophy
OMIM:614696	ERBB4	2066	HP:0003581	Adult onset
OMIM:614696	ERBB4	2066	HP:0001260	Dysarthria
OMIM:614696	ERBB4	2066	HP:0002483	Bulbar signs
OMIM:614696	ERBB4	2066	HP:0001265	Hyporeflexia
OMIM:614696	ERBB4	2066	HP:0001284	Areflexia
OMIM:614696	ERBB4	2066	HP:0001348	Brisk reflexes
OMIM:614696	ERBB4	2066	HP:0003678	Rapidly progressive
OMIM:614696	ERBB4	2066	HP:0002015	Dysphagia
OMIM:614696	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	ERBB4	2066	HP:0003487	Babinski sign
OMIM:614696	CHCHD10	400916	HP:0002380	Fasciculations
OMIM:614696	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:614696	CHCHD10	400916	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
OMIM:614696	CHCHD10	400916	HP:0003581	Adult onset
OMIM:614696	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:614696	CHCHD10	400916	HP:0002483	Bulbar signs
OMIM:614696	CHCHD10	400916	HP:0001265	Hyporeflexia
OMIM:614696	CHCHD10	400916	HP:0001284	Areflexia
OMIM:614696	CHCHD10	400916	HP:0001348	Brisk reflexes
OMIM:614696	CHCHD10	400916	HP:0003678	Rapidly progressive
OMIM:614696	CHCHD10	400916	HP:0002015	Dysphagia
OMIM:614696	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	CHCHD10	400916	HP:0003487	Babinski sign
OMIM:614696	OPTN	10133	HP:0002380	Fasciculations
OMIM:614696	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:614696	OPTN	10133	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	OPTN	10133	HP:0003202	Skeletal muscle atrophy
OMIM:614696	OPTN	10133	HP:0003581	Adult onset
OMIM:614696	OPTN	10133	HP:0001260	Dysarthria
OMIM:614696	OPTN	10133	HP:0002483	Bulbar signs
OMIM:614696	OPTN	10133	HP:0001265	Hyporeflexia
OMIM:614696	OPTN	10133	HP:0001284	Areflexia
OMIM:614696	OPTN	10133	HP:0001348	Brisk reflexes
OMIM:614696	OPTN	10133	HP:0003678	Rapidly progressive
OMIM:614696	OPTN	10133	HP:0002015	Dysphagia
OMIM:614696	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	OPTN	10133	HP:0003487	Babinski sign
OMIM:614696	FUS	2521	HP:0002380	Fasciculations
OMIM:614696	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:614696	FUS	2521	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	FUS	2521	HP:0003202	Skeletal muscle atrophy
OMIM:614696	FUS	2521	HP:0003581	Adult onset
OMIM:614696	FUS	2521	HP:0001260	Dysarthria
OMIM:614696	FUS	2521	HP:0002483	Bulbar signs
OMIM:614696	FUS	2521	HP:0001265	Hyporeflexia
OMIM:614696	FUS	2521	HP:0001284	Areflexia
OMIM:614696	FUS	2521	HP:0001348	Brisk reflexes
OMIM:614696	FUS	2521	HP:0003678	Rapidly progressive
OMIM:614696	FUS	2521	HP:0002015	Dysphagia
OMIM:614696	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	FUS	2521	HP:0003487	Babinski sign
OMIM:614696	UBQLN2	29978	HP:0002380	Fasciculations
OMIM:614696	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:614696	UBQLN2	29978	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	UBQLN2	29978	HP:0003202	Skeletal muscle atrophy
OMIM:614696	UBQLN2	29978	HP:0003581	Adult onset
OMIM:614696	UBQLN2	29978	HP:0001260	Dysarthria
OMIM:614696	UBQLN2	29978	HP:0002483	Bulbar signs
OMIM:614696	UBQLN2	29978	HP:0001265	Hyporeflexia
OMIM:614696	UBQLN2	29978	HP:0001284	Areflexia
OMIM:614696	UBQLN2	29978	HP:0001348	Brisk reflexes
OMIM:614696	UBQLN2	29978	HP:0003678	Rapidly progressive
OMIM:614696	UBQLN2	29978	HP:0002015	Dysphagia
OMIM:614696	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	UBQLN2	29978	HP:0003487	Babinski sign
OMIM:614696	ANG	283	HP:0002380	Fasciculations
OMIM:614696	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:614696	ANG	283	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	ANG	283	HP:0003202	Skeletal muscle atrophy
OMIM:614696	ANG	283	HP:0003581	Adult onset
OMIM:614696	ANG	283	HP:0001260	Dysarthria
OMIM:614696	ANG	283	HP:0002483	Bulbar signs
OMIM:614696	ANG	283	HP:0001265	Hyporeflexia
OMIM:614696	ANG	283	HP:0001284	Areflexia
OMIM:614696	ANG	283	HP:0001348	Brisk reflexes
OMIM:614696	ANG	283	HP:0003678	Rapidly progressive
OMIM:614696	ANG	283	HP:0002015	Dysphagia
OMIM:614696	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	ANG	283	HP:0003487	Babinski sign
OMIM:614696	C9ORF72	203228	HP:0002380	Fasciculations
OMIM:614696	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:614696	C9ORF72	203228	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:614696	C9ORF72	203228	HP:0003581	Adult onset
OMIM:614696	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:614696	C9ORF72	203228	HP:0002483	Bulbar signs
OMIM:614696	C9ORF72	203228	HP:0001265	Hyporeflexia
OMIM:614696	C9ORF72	203228	HP:0001284	Areflexia
OMIM:614696	C9ORF72	203228	HP:0001348	Brisk reflexes
OMIM:614696	C9ORF72	203228	HP:0003678	Rapidly progressive
OMIM:614696	C9ORF72	203228	HP:0002015	Dysphagia
OMIM:614696	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	C9ORF72	203228	HP:0003487	Babinski sign
OMIM:614696	PFN1	5216	HP:0002380	Fasciculations
OMIM:614696	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:614696	PFN1	5216	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	PFN1	5216	HP:0003202	Skeletal muscle atrophy
OMIM:614696	PFN1	5216	HP:0003581	Adult onset
OMIM:614696	PFN1	5216	HP:0001260	Dysarthria
OMIM:614696	PFN1	5216	HP:0002483	Bulbar signs
OMIM:614696	PFN1	5216	HP:0001265	Hyporeflexia
OMIM:614696	PFN1	5216	HP:0001284	Areflexia
OMIM:614696	PFN1	5216	HP:0001348	Brisk reflexes
OMIM:614696	PFN1	5216	HP:0003678	Rapidly progressive
OMIM:614696	PFN1	5216	HP:0002015	Dysphagia
OMIM:614696	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	PFN1	5216	HP:0003487	Babinski sign
OMIM:614696	ATXN2	6311	HP:0002380	Fasciculations
OMIM:614696	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:614696	ATXN2	6311	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	ATXN2	6311	HP:0003202	Skeletal muscle atrophy
OMIM:614696	ATXN2	6311	HP:0003581	Adult onset
OMIM:614696	ATXN2	6311	HP:0001260	Dysarthria
OMIM:614696	ATXN2	6311	HP:0002483	Bulbar signs
OMIM:614696	ATXN2	6311	HP:0001265	Hyporeflexia
OMIM:614696	ATXN2	6311	HP:0001284	Areflexia
OMIM:614696	ATXN2	6311	HP:0001348	Brisk reflexes
OMIM:614696	ATXN2	6311	HP:0003678	Rapidly progressive
OMIM:614696	ATXN2	6311	HP:0002015	Dysphagia
OMIM:614696	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	ATXN2	6311	HP:0003487	Babinski sign
OMIM:614696	DCTN1	1639	HP:0002380	Fasciculations
OMIM:614696	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:614696	DCTN1	1639	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	DCTN1	1639	HP:0003202	Skeletal muscle atrophy
OMIM:614696	DCTN1	1639	HP:0003581	Adult onset
OMIM:614696	DCTN1	1639	HP:0001260	Dysarthria
OMIM:614696	DCTN1	1639	HP:0002483	Bulbar signs
OMIM:614696	DCTN1	1639	HP:0001265	Hyporeflexia
OMIM:614696	DCTN1	1639	HP:0001284	Areflexia
OMIM:614696	DCTN1	1639	HP:0001348	Brisk reflexes
OMIM:614696	DCTN1	1639	HP:0003678	Rapidly progressive
OMIM:614696	DCTN1	1639	HP:0002015	Dysphagia
OMIM:614696	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	DCTN1	1639	HP:0003487	Babinski sign
OMIM:614696	FIG4	9896	HP:0002380	Fasciculations
OMIM:614696	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:614696	FIG4	9896	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	FIG4	9896	HP:0003202	Skeletal muscle atrophy
OMIM:614696	FIG4	9896	HP:0003581	Adult onset
OMIM:614696	FIG4	9896	HP:0001260	Dysarthria
OMIM:614696	FIG4	9896	HP:0002483	Bulbar signs
OMIM:614696	FIG4	9896	HP:0001265	Hyporeflexia
OMIM:614696	FIG4	9896	HP:0001284	Areflexia
OMIM:614696	FIG4	9896	HP:0001348	Brisk reflexes
OMIM:614696	FIG4	9896	HP:0003678	Rapidly progressive
OMIM:614696	FIG4	9896	HP:0002015	Dysphagia
OMIM:614696	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	FIG4	9896	HP:0003487	Babinski sign
OMIM:614696	HNRNPA1	3178	HP:0002380	Fasciculations
OMIM:614696	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:614696	HNRNPA1	3178	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	HNRNPA1	3178	HP:0003202	Skeletal muscle atrophy
OMIM:614696	HNRNPA1	3178	HP:0003581	Adult onset
OMIM:614696	HNRNPA1	3178	HP:0001260	Dysarthria
OMIM:614696	HNRNPA1	3178	HP:0002483	Bulbar signs
OMIM:614696	HNRNPA1	3178	HP:0001265	Hyporeflexia
OMIM:614696	HNRNPA1	3178	HP:0001284	Areflexia
OMIM:614696	HNRNPA1	3178	HP:0001348	Brisk reflexes
OMIM:614696	HNRNPA1	3178	HP:0003678	Rapidly progressive
OMIM:614696	HNRNPA1	3178	HP:0002015	Dysphagia
OMIM:614696	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	HNRNPA1	3178	HP:0003487	Babinski sign
OMIM:614696	SQSTM1	8878	HP:0002380	Fasciculations
OMIM:614696	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:614696	SQSTM1	8878	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:614696	SQSTM1	8878	HP:0003581	Adult onset
OMIM:614696	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:614696	SQSTM1	8878	HP:0002483	Bulbar signs
OMIM:614696	SQSTM1	8878	HP:0001265	Hyporeflexia
OMIM:614696	SQSTM1	8878	HP:0001284	Areflexia
OMIM:614696	SQSTM1	8878	HP:0001348	Brisk reflexes
OMIM:614696	SQSTM1	8878	HP:0003678	Rapidly progressive
OMIM:614696	SQSTM1	8878	HP:0002015	Dysphagia
OMIM:614696	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	SQSTM1	8878	HP:0003487	Babinski sign
OMIM:614696	UNC13A	23025	HP:0002380	Fasciculations
OMIM:614696	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:614696	UNC13A	23025	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	UNC13A	23025	HP:0003202	Skeletal muscle atrophy
OMIM:614696	UNC13A	23025	HP:0003581	Adult onset
OMIM:614696	UNC13A	23025	HP:0001260	Dysarthria
OMIM:614696	UNC13A	23025	HP:0002483	Bulbar signs
OMIM:614696	UNC13A	23025	HP:0001265	Hyporeflexia
OMIM:614696	UNC13A	23025	HP:0001284	Areflexia
OMIM:614696	UNC13A	23025	HP:0001348	Brisk reflexes
OMIM:614696	UNC13A	23025	HP:0003678	Rapidly progressive
OMIM:614696	UNC13A	23025	HP:0002015	Dysphagia
OMIM:614696	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	UNC13A	23025	HP:0003487	Babinski sign
OMIM:614696	MATR3	9782	HP:0002380	Fasciculations
OMIM:614696	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:614696	MATR3	9782	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	MATR3	9782	HP:0003202	Skeletal muscle atrophy
OMIM:614696	MATR3	9782	HP:0003581	Adult onset
OMIM:614696	MATR3	9782	HP:0001260	Dysarthria
OMIM:614696	MATR3	9782	HP:0002483	Bulbar signs
OMIM:614696	MATR3	9782	HP:0001265	Hyporeflexia
OMIM:614696	MATR3	9782	HP:0001284	Areflexia
OMIM:614696	MATR3	9782	HP:0001348	Brisk reflexes
OMIM:614696	MATR3	9782	HP:0003678	Rapidly progressive
OMIM:614696	MATR3	9782	HP:0002015	Dysphagia
OMIM:614696	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	MATR3	9782	HP:0003487	Babinski sign
OMIM:614696	TBK1	29110	HP:0002380	Fasciculations
OMIM:614696	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:614696	TBK1	29110	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:614696	TBK1	29110	HP:0003581	Adult onset
OMIM:614696	TBK1	29110	HP:0001260	Dysarthria
OMIM:614696	TBK1	29110	HP:0002483	Bulbar signs
OMIM:614696	TBK1	29110	HP:0001265	Hyporeflexia
OMIM:614696	TBK1	29110	HP:0001284	Areflexia
OMIM:614696	TBK1	29110	HP:0001348	Brisk reflexes
OMIM:614696	TBK1	29110	HP:0003678	Rapidly progressive
OMIM:614696	TBK1	29110	HP:0002015	Dysphagia
OMIM:614696	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	TBK1	29110	HP:0003487	Babinski sign
OMIM:614696	SOD1	6647	HP:0002380	Fasciculations
OMIM:614696	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:614696	SOD1	6647	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	SOD1	6647	HP:0003202	Skeletal muscle atrophy
OMIM:614696	SOD1	6647	HP:0003581	Adult onset
OMIM:614696	SOD1	6647	HP:0001260	Dysarthria
OMIM:614696	SOD1	6647	HP:0002483	Bulbar signs
OMIM:614696	SOD1	6647	HP:0001265	Hyporeflexia
OMIM:614696	SOD1	6647	HP:0001284	Areflexia
OMIM:614696	SOD1	6647	HP:0001348	Brisk reflexes
OMIM:614696	SOD1	6647	HP:0003678	Rapidly progressive
OMIM:614696	SOD1	6647	HP:0002015	Dysphagia
OMIM:614696	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	SOD1	6647	HP:0003487	Babinski sign
OMIM:614696	VCP	7415	HP:0002380	Fasciculations
OMIM:614696	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:614696	VCP	7415	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:614696	VCP	7415	HP:0003581	Adult onset
OMIM:614696	VCP	7415	HP:0001260	Dysarthria
OMIM:614696	VCP	7415	HP:0002483	Bulbar signs
OMIM:614696	VCP	7415	HP:0001265	Hyporeflexia
OMIM:614696	VCP	7415	HP:0001284	Areflexia
OMIM:614696	VCP	7415	HP:0001348	Brisk reflexes
OMIM:614696	VCP	7415	HP:0003678	Rapidly progressive
OMIM:614696	VCP	7415	HP:0002015	Dysphagia
OMIM:614696	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	VCP	7415	HP:0003487	Babinski sign
OMIM:614696	CHMP2B	25978	HP:0002380	Fasciculations
OMIM:614696	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:614696	CHMP2B	25978	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	CHMP2B	25978	HP:0003202	Skeletal muscle atrophy
OMIM:614696	CHMP2B	25978	HP:0003581	Adult onset
OMIM:614696	CHMP2B	25978	HP:0001260	Dysarthria
OMIM:614696	CHMP2B	25978	HP:0002483	Bulbar signs
OMIM:614696	CHMP2B	25978	HP:0001265	Hyporeflexia
OMIM:614696	CHMP2B	25978	HP:0001284	Areflexia
OMIM:614696	CHMP2B	25978	HP:0001348	Brisk reflexes
OMIM:614696	CHMP2B	25978	HP:0003678	Rapidly progressive
OMIM:614696	CHMP2B	25978	HP:0002015	Dysphagia
OMIM:614696	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	CHMP2B	25978	HP:0003487	Babinski sign
OMIM:614696	PRPH	5630	HP:0002380	Fasciculations
OMIM:614696	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:614696	PRPH	5630	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:614696	PRPH	5630	HP:0003202	Skeletal muscle atrophy
OMIM:614696	PRPH	5630	HP:0003581	Adult onset
OMIM:614696	PRPH	5630	HP:0001260	Dysarthria
OMIM:614696	PRPH	5630	HP:0002483	Bulbar signs
OMIM:614696	PRPH	5630	HP:0001265	Hyporeflexia
OMIM:614696	PRPH	5630	HP:0001284	Areflexia
OMIM:614696	PRPH	5630	HP:0001348	Brisk reflexes
OMIM:614696	PRPH	5630	HP:0003678	Rapidly progressive
OMIM:614696	PRPH	5630	HP:0002015	Dysphagia
OMIM:614696	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:614696	PRPH	5630	HP:0003487	Babinski sign
OMIM:615041	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:615041	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:615041	B4GAT1	11041	HP:0000133	Gonadal dysgenesis
OMIM:615041	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:615041	B4GAT1	11041	HP:0007973	Retinal dysplasia
OMIM:615041	B4GAT1	11041	HP:0007033	Cerebellar dysplasia
OMIM:615041	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:615041	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:615041	POMT2	29954	HP:0000133	Gonadal dysgenesis
OMIM:615041	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:615041	POMT2	29954	HP:0007973	Retinal dysplasia
OMIM:615041	POMT2	29954	HP:0007033	Cerebellar dysplasia
OMIM:615041	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:615041	COL4A1	1282	HP:0003560	Muscular dystrophy
OMIM:615041	COL4A1	1282	HP:0000133	Gonadal dysgenesis
OMIM:615041	COL4A1	1282	HP:0000007	Autosomal recessive inheritance
OMIM:615041	COL4A1	1282	HP:0007973	Retinal dysplasia
OMIM:615041	COL4A1	1282	HP:0007033	Cerebellar dysplasia
OMIM:615041	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:615041	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:615041	POMK	84197	HP:0000133	Gonadal dysgenesis
OMIM:615041	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:615041	POMK	84197	HP:0007973	Retinal dysplasia
OMIM:615041	POMK	84197	HP:0007033	Cerebellar dysplasia
OMIM:615041	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:615041	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:615041	DAG1	1605	HP:0000133	Gonadal dysgenesis
OMIM:615041	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:615041	DAG1	1605	HP:0007973	Retinal dysplasia
OMIM:615041	DAG1	1605	HP:0007033	Cerebellar dysplasia
OMIM:615041	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:615041	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:615041	POMGNT1	55624	HP:0000133	Gonadal dysgenesis
OMIM:615041	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:615041	POMGNT1	55624	HP:0007973	Retinal dysplasia
OMIM:615041	POMGNT1	55624	HP:0007033	Cerebellar dysplasia
OMIM:615041	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:615041	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:615041	FKTN	2218	HP:0000133	Gonadal dysgenesis
OMIM:615041	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:615041	FKTN	2218	HP:0007973	Retinal dysplasia
OMIM:615041	FKTN	2218	HP:0007033	Cerebellar dysplasia
OMIM:615041	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:615041	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:615041	FKRP	79147	HP:0000133	Gonadal dysgenesis
OMIM:615041	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:615041	FKRP	79147	HP:0007973	Retinal dysplasia
OMIM:615041	FKRP	79147	HP:0007033	Cerebellar dysplasia
OMIM:615041	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:615041	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:615041	ISPD	729920	HP:0000133	Gonadal dysgenesis
OMIM:615041	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:615041	ISPD	729920	HP:0007973	Retinal dysplasia
OMIM:615041	ISPD	729920	HP:0007033	Cerebellar dysplasia
OMIM:615041	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:615041	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:615041	B3GALNT2	148789	HP:0000133	Gonadal dysgenesis
OMIM:615041	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:615041	B3GALNT2	148789	HP:0007973	Retinal dysplasia
OMIM:615041	B3GALNT2	148789	HP:0007033	Cerebellar dysplasia
OMIM:615041	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:615041	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:615041	TMEM5	10329	HP:0000133	Gonadal dysgenesis
OMIM:615041	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:615041	TMEM5	10329	HP:0007973	Retinal dysplasia
OMIM:615041	TMEM5	10329	HP:0007033	Cerebellar dysplasia
OMIM:615041	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:615041	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:615041	POMT1	10585	HP:0000133	Gonadal dysgenesis
OMIM:615041	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:615041	POMT1	10585	HP:0007973	Retinal dysplasia
OMIM:615041	POMT1	10585	HP:0007033	Cerebellar dysplasia
OMIM:615041	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:615041	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:615041	POMGNT2	84892	HP:0000133	Gonadal dysgenesis
OMIM:615041	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:615041	POMGNT2	84892	HP:0007973	Retinal dysplasia
OMIM:615041	POMGNT2	84892	HP:0007033	Cerebellar dysplasia
OMIM:615041	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:615041	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:615041	LARGE	9215	HP:0000133	Gonadal dysgenesis
OMIM:615041	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:615041	LARGE	9215	HP:0007973	Retinal dysplasia
OMIM:615041	LARGE	9215	HP:0007033	Cerebellar dysplasia
ORPHANET:178377	LRP5	4041	HP:0000337	Broad forehead
ORPHANET:178377	LRP5	4041	HP:0010628	Facial palsy
ORPHANET:178377	LRP5	4041	HP:0000505	Visual impairment
ORPHANET:178377	LRP5	4041	HP:0000348	High forehead
ORPHANET:178377	LRP5	4041	HP:0002076	Migraine
ORPHANET:178377	LRP5	4041	HP:0000648	Optic atrophy
ORPHANET:178377	LRP5	4041	HP:0001363	Craniosynostosis
ORPHANET:178377	LRP5	4041	HP:0000256	Macrocephaly
ORPHANET:178377	LRP5	4041	HP:0000277	Abnormality of the mandible
ORPHANET:178377	LRP5	4041	HP:0004493	Craniofacial hyperostosis
ORPHANET:178377	LRP5	4041	HP:0011001	Increased bone mineral density
ORPHANET:178377	LRP5	4041	HP:0000365	Hearing impairment
ORPHANET:178377	LRP5	4041	HP:0000316	Hypertelorism
ORPHANET:178377	LRP5	4041	HP:0100543	Cognitive impairment
OMIM:145500	PTGIS	5740	HP:0001426	Multifactorial inheritance
OMIM:145500	PTGIS	5740	HP:0004421	Elevated systolic blood pressure
OMIM:145500	PTGIS	5740	HP:0004972	Elevated mean arterial pressure
OMIM:145500	PTGIS	5740	HP:0005117	Elevated diastolic blood pressure
OMIM:146550	EPS8L3	79574	HP:0000006	Autosomal dominant inheritance
OMIM:146550	EPS8L3	79574	HP:0000535	Sparse eyebrow
OMIM:146550	EPS8L3	79574	HP:0003777	Pili torti
OMIM:146550	EPS8L3	79574	HP:0000653	Sparse eyelashes
OMIM:146550	EPS8L3	79574	HP:0001596	Alopecia
OMIM:146550	HR	55806	HP:0000006	Autosomal dominant inheritance
OMIM:146550	HR	55806	HP:0000535	Sparse eyebrow
OMIM:146550	HR	55806	HP:0003777	Pili torti
OMIM:146550	HR	55806	HP:0000653	Sparse eyelashes
OMIM:146550	HR	55806	HP:0001596	Alopecia
OMIM:615399	PIGT	51604	HP:0002027	Abdominal pain
OMIM:615399	PIGT	51604	HP:0000006	Autosomal dominant inheritance
OMIM:615399	PIGT	51604	HP:0002094	Dyspnea
OMIM:615399	PIGT	51604	HP:0001025	Urticaria
OMIM:615399	PIGT	51604	HP:0001878	Hemolytic anemia
OMIM:615399	PIGT	51604	HP:0002829	Arthralgia
OMIM:615399	PIGT	51604	HP:0001428	Somatic mutation
OMIM:615399	PIGT	51604	HP:0002014	Diarrhea
OMIM:615399	PIGT	51604	HP:0002315	Headache
OMIM:615399	PIGA	5277	HP:0002027	Abdominal pain
OMIM:615399	PIGA	5277	HP:0000006	Autosomal dominant inheritance
OMIM:615399	PIGA	5277	HP:0002094	Dyspnea
OMIM:615399	PIGA	5277	HP:0001025	Urticaria
OMIM:615399	PIGA	5277	HP:0001878	Hemolytic anemia
OMIM:615399	PIGA	5277	HP:0002829	Arthralgia
OMIM:615399	PIGA	5277	HP:0001428	Somatic mutation
OMIM:615399	PIGA	5277	HP:0002014	Diarrhea
OMIM:615399	PIGA	5277	HP:0002315	Headache
OMIM:142669	UFSP2	55325	HP:0002758	Osteoarthritis
OMIM:142669	UFSP2	55325	HP:0003182	Shallow acetabular fossae
OMIM:142669	UFSP2	55325	HP:0011463	Childhood onset
OMIM:142669	UFSP2	55325	HP:0002650	Scoliosis
OMIM:142669	UFSP2	55325	HP:0001385	Hip dysplasia
OMIM:142669	UFSP2	55325	HP:0004348	Abnormality of bone mineral density
OMIM:142669	UFSP2	55325	HP:0000006	Autosomal dominant inheritance
OMIM:142669	UFSP2	55325	HP:0002808	Kyphosis
OMIM:192950	HOXD10	3236	HP:0001369	Arthritis
OMIM:192950	HOXD10	3236	HP:0003028	Abnormality of the ankles
OMIM:192950	HOXD10	3236	HP:0000006	Autosomal dominant inheritance
OMIM:192950	HOXD10	3236	HP:0001838	Rocker bottom foot
ORPHANET:2073	HLA-DRB1	3123	HP:0001324	Muscle weakness
ORPHANET:2073	HLA-DRB1	3123	HP:0002354	Memory impairment
ORPHANET:2073	HLA-DRB1	3123	HP:0004372	Reduced consciousness/confusion
ORPHANET:2073	HLA-DRB1	3123	HP:0001513	Obesity
ORPHANET:2073	HLA-DRB1	3123	HP:0001645	Sudden cardiac death
ORPHANET:2073	HLA-DRB1	3123	HP:0002167	Neurological speech impairment
ORPHANET:2073	HLA-DRB1	3123	HP:0002360	Sleep disturbance
ORPHANET:2073	HLA-DRB1	3123	HP:0000738	Hallucinations
ORPHANET:2073	HLA-DRB1	3123	HP:0000496	Abnormality of eye movement
ORPHANET:2073	HCRT	3060	HP:0001324	Muscle weakness
ORPHANET:2073	HCRT	3060	HP:0002354	Memory impairment
ORPHANET:2073	HCRT	3060	HP:0004372	Reduced consciousness/confusion
ORPHANET:2073	HCRT	3060	HP:0001513	Obesity
ORPHANET:2073	HCRT	3060	HP:0001645	Sudden cardiac death
ORPHANET:2073	HCRT	3060	HP:0002167	Neurological speech impairment
ORPHANET:2073	HCRT	3060	HP:0002360	Sleep disturbance
ORPHANET:2073	HCRT	3060	HP:0000738	Hallucinations
ORPHANET:2073	HCRT	3060	HP:0000496	Abnormality of eye movement
ORPHANET:2073	MOG	4340	HP:0001324	Muscle weakness
ORPHANET:2073	MOG	4340	HP:0002354	Memory impairment
ORPHANET:2073	MOG	4340	HP:0004372	Reduced consciousness/confusion
ORPHANET:2073	MOG	4340	HP:0001513	Obesity
ORPHANET:2073	MOG	4340	HP:0001645	Sudden cardiac death
ORPHANET:2073	MOG	4340	HP:0002167	Neurological speech impairment
ORPHANET:2073	MOG	4340	HP:0002360	Sleep disturbance
ORPHANET:2073	MOG	4340	HP:0000738	Hallucinations
ORPHANET:2073	MOG	4340	HP:0000496	Abnormality of eye movement
ORPHANET:2073	CTSH	1512	HP:0001324	Muscle weakness
ORPHANET:2073	CTSH	1512	HP:0002354	Memory impairment
ORPHANET:2073	CTSH	1512	HP:0004372	Reduced consciousness/confusion
ORPHANET:2073	CTSH	1512	HP:0001513	Obesity
ORPHANET:2073	CTSH	1512	HP:0001645	Sudden cardiac death
ORPHANET:2073	CTSH	1512	HP:0002167	Neurological speech impairment
ORPHANET:2073	CTSH	1512	HP:0002360	Sleep disturbance
ORPHANET:2073	CTSH	1512	HP:0000738	Hallucinations
ORPHANET:2073	CTSH	1512	HP:0000496	Abnormality of eye movement
ORPHANET:2073	P2RY11	5032	HP:0001324	Muscle weakness
ORPHANET:2073	P2RY11	5032	HP:0002354	Memory impairment
ORPHANET:2073	P2RY11	5032	HP:0004372	Reduced consciousness/confusion
ORPHANET:2073	P2RY11	5032	HP:0001513	Obesity
ORPHANET:2073	P2RY11	5032	HP:0001645	Sudden cardiac death
ORPHANET:2073	P2RY11	5032	HP:0002167	Neurological speech impairment
ORPHANET:2073	P2RY11	5032	HP:0002360	Sleep disturbance
ORPHANET:2073	P2RY11	5032	HP:0000738	Hallucinations
ORPHANET:2073	P2RY11	5032	HP:0000496	Abnormality of eye movement
ORPHANET:2073	ZNF365	22891	HP:0001324	Muscle weakness
ORPHANET:2073	ZNF365	22891	HP:0002354	Memory impairment
ORPHANET:2073	ZNF365	22891	HP:0004372	Reduced consciousness/confusion
ORPHANET:2073	ZNF365	22891	HP:0001513	Obesity
ORPHANET:2073	ZNF365	22891	HP:0001645	Sudden cardiac death
ORPHANET:2073	ZNF365	22891	HP:0002167	Neurological speech impairment
ORPHANET:2073	ZNF365	22891	HP:0002360	Sleep disturbance
ORPHANET:2073	ZNF365	22891	HP:0000738	Hallucinations
ORPHANET:2073	ZNF365	22891	HP:0000496	Abnormality of eye movement
ORPHANET:2073	TNFSF4	7292	HP:0001324	Muscle weakness
ORPHANET:2073	TNFSF4	7292	HP:0002354	Memory impairment
ORPHANET:2073	TNFSF4	7292	HP:0004372	Reduced consciousness/confusion
ORPHANET:2073	TNFSF4	7292	HP:0001513	Obesity
ORPHANET:2073	TNFSF4	7292	HP:0001645	Sudden cardiac death
ORPHANET:2073	TNFSF4	7292	HP:0002167	Neurological speech impairment
ORPHANET:2073	TNFSF4	7292	HP:0002360	Sleep disturbance
ORPHANET:2073	TNFSF4	7292	HP:0000738	Hallucinations
ORPHANET:2073	TNFSF4	7292	HP:0000496	Abnormality of eye movement
ORPHANET:2073	HLA-DQB1	3119	HP:0001324	Muscle weakness
ORPHANET:2073	HLA-DQB1	3119	HP:0002354	Memory impairment
ORPHANET:2073	HLA-DQB1	3119	HP:0004372	Reduced consciousness/confusion
ORPHANET:2073	HLA-DQB1	3119	HP:0001513	Obesity
ORPHANET:2073	HLA-DQB1	3119	HP:0001645	Sudden cardiac death
ORPHANET:2073	HLA-DQB1	3119	HP:0002167	Neurological speech impairment
ORPHANET:2073	HLA-DQB1	3119	HP:0002360	Sleep disturbance
ORPHANET:2073	HLA-DQB1	3119	HP:0000738	Hallucinations
ORPHANET:2073	HLA-DQB1	3119	HP:0000496	Abnormality of eye movement
ORPHANET:867	CYLD	1540	HP:0008069	Neoplasm of the skin
ORPHANET:867	CYLD	1540	HP:0100585	Telangiectasia of the skin
OMIM:601780	CLN6	54982	HP:0000546	Retinal degeneration
OMIM:601780	CLN6	54982	HP:0001250	Seizures
OMIM:601780	CLN6	54982	HP:0000007	Autosomal recessive inheritance
OMIM:601780	CLN6	54982	HP:0000529	Progressive visual loss
OMIM:601780	CLN6	54982	HP:0001311	Abnormal nervous system electrophysiology
OMIM:610798	LAMTOR2	28956	HP:0000007	Autosomal recessive inheritance
OMIM:610798	LAMTOR2	28956	HP:0004322	Short stature
OMIM:610798	LAMTOR2	28956	HP:0007513	Generalized hypopigmentation
OMIM:610798	LAMTOR2	28956	HP:0001875	Neutropenia
OMIM:610798	LAMTOR2	28956	HP:0005374	Cellular immunodeficiency
OMIM:610798	LAMTOR2	28956	HP:0005599	Hypopigmentation of hair
OMIM:610798	LAMTOR2	28956	HP:0000280	Coarse facial features
OMIM:300816	AIFM1	9131	HP:0001265	Hyporeflexia
OMIM:300816	AIFM1	9131	HP:0003593	Infantile onset
OMIM:300816	AIFM1	9131	HP:0001250	Seizures
OMIM:300816	AIFM1	9131	HP:0001271	Polyneuropathy
OMIM:300816	AIFM1	9131	HP:0002376	Developmental regression
OMIM:300816	AIFM1	9131	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300816	AIFM1	9131	HP:0002380	Fasciculations
OMIM:300816	AIFM1	9131	HP:0003542	Increased serum pyruvate
OMIM:300816	AIFM1	9131	HP:0009025	Increased connective tissue
OMIM:300816	AIFM1	9131	HP:0002490	Increased CSF lactate
OMIM:300816	AIFM1	9131	HP:0001419	X-linked recessive inheritance
OMIM:300816	AIFM1	9131	HP:0001263	Global developmental delay
OMIM:300816	AIFM1	9131	HP:0003202	Skeletal muscle atrophy
OMIM:300816	AIFM1	9131	HP:0002445	Tetraplegia
OMIM:300816	AIFM1	9131	HP:0003676	Progressive
OMIM:300816	AIFM1	9131	HP:0002134	Abnormality of the basal ganglia
OMIM:300816	AIFM1	9131	HP:0001252	Muscular hypotonia
OMIM:300816	AIFM1	9131	HP:0002151	Increased serum lactate
OMIM:601493	TPM1	7168	HP:0001712	Left ventricular hypertrophy
OMIM:601493	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:601493	TPM1	7168	HP:0004308	Ventricular arrhythmia
OMIM:601493	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:601493	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:601493	TPM1	7168	HP:0001645	Sudden cardiac death
OMIM:601493	CRYAB	1410	HP:0001712	Left ventricular hypertrophy
OMIM:601493	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:601493	CRYAB	1410	HP:0004308	Ventricular arrhythmia
OMIM:601493	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:601493	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:601493	CRYAB	1410	HP:0001645	Sudden cardiac death
OMIM:601493	ACTC1	70	HP:0001712	Left ventricular hypertrophy
OMIM:601493	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:601493	ACTC1	70	HP:0004308	Ventricular arrhythmia
OMIM:601493	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:601493	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:601493	ACTC1	70	HP:0001645	Sudden cardiac death
OMIM:601493	RAF1	5894	HP:0001712	Left ventricular hypertrophy
OMIM:601493	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:601493	RAF1	5894	HP:0004308	Ventricular arrhythmia
OMIM:601493	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:601493	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:601493	RAF1	5894	HP:0001645	Sudden cardiac death
OMIM:601493	GATAD1	57798	HP:0001712	Left ventricular hypertrophy
OMIM:601493	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:601493	GATAD1	57798	HP:0004308	Ventricular arrhythmia
OMIM:601493	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:601493	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:601493	GATAD1	57798	HP:0001645	Sudden cardiac death
OMIM:601493	LAMA4	3910	HP:0001712	Left ventricular hypertrophy
OMIM:601493	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:601493	LAMA4	3910	HP:0004308	Ventricular arrhythmia
OMIM:601493	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:601493	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:601493	LAMA4	3910	HP:0001645	Sudden cardiac death
OMIM:601493	TMPO	7112	HP:0001712	Left ventricular hypertrophy
OMIM:601493	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:601493	TMPO	7112	HP:0004308	Ventricular arrhythmia
OMIM:601493	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:601493	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:601493	TMPO	7112	HP:0001645	Sudden cardiac death
OMIM:601493	DES	1674	HP:0001712	Left ventricular hypertrophy
OMIM:601493	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:601493	DES	1674	HP:0004308	Ventricular arrhythmia
OMIM:601493	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:601493	DES	1674	HP:0001635	Congestive heart failure
OMIM:601493	DES	1674	HP:0001645	Sudden cardiac death
OMIM:601493	ABCC9	10060	HP:0001712	Left ventricular hypertrophy
OMIM:601493	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:601493	ABCC9	10060	HP:0004308	Ventricular arrhythmia
OMIM:601493	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:601493	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:601493	ABCC9	10060	HP:0001645	Sudden cardiac death
OMIM:601493	MYH6	4624	HP:0001712	Left ventricular hypertrophy
OMIM:601493	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:601493	MYH6	4624	HP:0004308	Ventricular arrhythmia
OMIM:601493	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:601493	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:601493	MYH6	4624	HP:0001645	Sudden cardiac death
OMIM:601493	MYH7	4625	HP:0001712	Left ventricular hypertrophy
OMIM:601493	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:601493	MYH7	4625	HP:0004308	Ventricular arrhythmia
OMIM:601493	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:601493	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:601493	MYH7	4625	HP:0001645	Sudden cardiac death
OMIM:601493	LDB3	11155	HP:0001712	Left ventricular hypertrophy
OMIM:601493	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:601493	LDB3	11155	HP:0004308	Ventricular arrhythmia
OMIM:601493	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:601493	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:601493	LDB3	11155	HP:0001645	Sudden cardiac death
OMIM:601493	ACTN2	88	HP:0001712	Left ventricular hypertrophy
OMIM:601493	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:601493	ACTN2	88	HP:0004308	Ventricular arrhythmia
OMIM:601493	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:601493	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:601493	ACTN2	88	HP:0001645	Sudden cardiac death
OMIM:601493	TXNRD2	10587	HP:0001712	Left ventricular hypertrophy
OMIM:601493	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:601493	TXNRD2	10587	HP:0004308	Ventricular arrhythmia
OMIM:601493	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:601493	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:601493	TXNRD2	10587	HP:0001645	Sudden cardiac death
OMIM:601493	DMD	1756	HP:0001712	Left ventricular hypertrophy
OMIM:601493	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:601493	DMD	1756	HP:0004308	Ventricular arrhythmia
OMIM:601493	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:601493	DMD	1756	HP:0001635	Congestive heart failure
OMIM:601493	DMD	1756	HP:0001645	Sudden cardiac death
OMIM:601493	TNNC1	7134	HP:0001712	Left ventricular hypertrophy
OMIM:601493	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:601493	TNNC1	7134	HP:0004308	Ventricular arrhythmia
OMIM:601493	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:601493	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:601493	TNNC1	7134	HP:0001645	Sudden cardiac death
OMIM:601493	PSEN1	5663	HP:0001712	Left ventricular hypertrophy
OMIM:601493	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:601493	PSEN1	5663	HP:0004308	Ventricular arrhythmia
OMIM:601493	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:601493	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:601493	PSEN1	5663	HP:0001645	Sudden cardiac death
OMIM:601493	LMNA	4000	HP:0001712	Left ventricular hypertrophy
OMIM:601493	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:601493	LMNA	4000	HP:0004308	Ventricular arrhythmia
OMIM:601493	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:601493	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:601493	LMNA	4000	HP:0001645	Sudden cardiac death
OMIM:601493	PSEN2	5664	HP:0001712	Left ventricular hypertrophy
OMIM:601493	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:601493	PSEN2	5664	HP:0004308	Ventricular arrhythmia
OMIM:601493	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:601493	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:601493	PSEN2	5664	HP:0001645	Sudden cardiac death
OMIM:601493	TNNI3	7137	HP:0001712	Left ventricular hypertrophy
OMIM:601493	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:601493	TNNI3	7137	HP:0004308	Ventricular arrhythmia
OMIM:601493	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:601493	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:601493	TNNI3	7137	HP:0001645	Sudden cardiac death
OMIM:601493	FHL2	2274	HP:0001712	Left ventricular hypertrophy
OMIM:601493	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:601493	FHL2	2274	HP:0004308	Ventricular arrhythmia
OMIM:601493	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:601493	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:601493	FHL2	2274	HP:0001645	Sudden cardiac death
OMIM:601493	TNNT2	7139	HP:0001712	Left ventricular hypertrophy
OMIM:601493	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:601493	TNNT2	7139	HP:0004308	Ventricular arrhythmia
OMIM:601493	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:601493	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:601493	TNNT2	7139	HP:0001645	Sudden cardiac death
OMIM:601493	DSG2	1829	HP:0001712	Left ventricular hypertrophy
OMIM:601493	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:601493	DSG2	1829	HP:0004308	Ventricular arrhythmia
OMIM:601493	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:601493	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:601493	DSG2	1829	HP:0001645	Sudden cardiac death
OMIM:601493	PLN	5350	HP:0001712	Left ventricular hypertrophy
OMIM:601493	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:601493	PLN	5350	HP:0004308	Ventricular arrhythmia
OMIM:601493	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:601493	PLN	5350	HP:0001635	Congestive heart failure
OMIM:601493	PLN	5350	HP:0001645	Sudden cardiac death
OMIM:601493	PRDM16	63976	HP:0001712	Left ventricular hypertrophy
OMIM:601493	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:601493	PRDM16	63976	HP:0004308	Ventricular arrhythmia
OMIM:601493	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:601493	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:601493	PRDM16	63976	HP:0001645	Sudden cardiac death
OMIM:601493	TTN	7273	HP:0001712	Left ventricular hypertrophy
OMIM:601493	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:601493	TTN	7273	HP:0004308	Ventricular arrhythmia
OMIM:601493	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:601493	TTN	7273	HP:0001635	Congestive heart failure
OMIM:601493	TTN	7273	HP:0001645	Sudden cardiac death
OMIM:601493	NEXN	91624	HP:0001712	Left ventricular hypertrophy
OMIM:601493	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:601493	NEXN	91624	HP:0004308	Ventricular arrhythmia
OMIM:601493	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:601493	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:601493	NEXN	91624	HP:0001645	Sudden cardiac death
OMIM:601493	FKTN	2218	HP:0001712	Left ventricular hypertrophy
OMIM:601493	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:601493	FKTN	2218	HP:0004308	Ventricular arrhythmia
OMIM:601493	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:601493	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:601493	FKTN	2218	HP:0001645	Sudden cardiac death
OMIM:601493	MYH7B	57644	HP:0001712	Left ventricular hypertrophy
OMIM:601493	MYH7B	57644	HP:0001644	Dilated cardiomyopathy
OMIM:601493	MYH7B	57644	HP:0004308	Ventricular arrhythmia
OMIM:601493	MYH7B	57644	HP:0000006	Autosomal dominant inheritance
OMIM:601493	MYH7B	57644	HP:0001635	Congestive heart failure
OMIM:601493	MYH7B	57644	HP:0001645	Sudden cardiac death
OMIM:601493	SGCD	6444	HP:0001712	Left ventricular hypertrophy
OMIM:601493	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:601493	SGCD	6444	HP:0004308	Ventricular arrhythmia
OMIM:601493	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:601493	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:601493	SGCD	6444	HP:0001645	Sudden cardiac death
OMIM:601493	DTNA	1837	HP:0001712	Left ventricular hypertrophy
OMIM:601493	DTNA	1837	HP:0001644	Dilated cardiomyopathy
OMIM:601493	DTNA	1837	HP:0004308	Ventricular arrhythmia
OMIM:601493	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:601493	DTNA	1837	HP:0001635	Congestive heart failure
OMIM:601493	DTNA	1837	HP:0001645	Sudden cardiac death
OMIM:601493	TCAP	8557	HP:0001712	Left ventricular hypertrophy
OMIM:601493	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:601493	TCAP	8557	HP:0004308	Ventricular arrhythmia
OMIM:601493	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:601493	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:601493	TCAP	8557	HP:0001645	Sudden cardiac death
OMIM:601493	CSRP3	8048	HP:0001712	Left ventricular hypertrophy
OMIM:601493	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:601493	CSRP3	8048	HP:0004308	Ventricular arrhythmia
OMIM:601493	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:601493	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:601493	CSRP3	8048	HP:0001645	Sudden cardiac death
OMIM:601493	RBM20	282996	HP:0001712	Left ventricular hypertrophy
OMIM:601493	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:601493	RBM20	282996	HP:0004308	Ventricular arrhythmia
OMIM:601493	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:601493	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:601493	RBM20	282996	HP:0001645	Sudden cardiac death
OMIM:601493	TAZ	6901	HP:0001712	Left ventricular hypertrophy
OMIM:601493	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:601493	TAZ	6901	HP:0004308	Ventricular arrhythmia
OMIM:601493	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:601493	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:601493	TAZ	6901	HP:0001645	Sudden cardiac death
OMIM:601493	SDHA	6389	HP:0001712	Left ventricular hypertrophy
OMIM:601493	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:601493	SDHA	6389	HP:0004308	Ventricular arrhythmia
OMIM:601493	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:601493	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:601493	SDHA	6389	HP:0001645	Sudden cardiac death
OMIM:601493	VCL	7414	HP:0001712	Left ventricular hypertrophy
OMIM:601493	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:601493	VCL	7414	HP:0004308	Ventricular arrhythmia
OMIM:601493	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:601493	VCL	7414	HP:0001635	Congestive heart failure
OMIM:601493	VCL	7414	HP:0001645	Sudden cardiac death
OMIM:601493	MYPN	84665	HP:0001712	Left ventricular hypertrophy
OMIM:601493	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:601493	MYPN	84665	HP:0004308	Ventricular arrhythmia
OMIM:601493	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:601493	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:601493	MYPN	84665	HP:0001645	Sudden cardiac death
OMIM:601493	SCN5A	6331	HP:0001712	Left ventricular hypertrophy
OMIM:601493	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:601493	SCN5A	6331	HP:0004308	Ventricular arrhythmia
OMIM:601493	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:601493	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:601493	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:601493	BAG3	9531	HP:0001712	Left ventricular hypertrophy
OMIM:601493	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:601493	BAG3	9531	HP:0004308	Ventricular arrhythmia
OMIM:601493	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:601493	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:601493	BAG3	9531	HP:0001645	Sudden cardiac death
OMIM:601493	DOLK	22845	HP:0001712	Left ventricular hypertrophy
OMIM:601493	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:601493	DOLK	22845	HP:0004308	Ventricular arrhythmia
OMIM:601493	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:601493	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:601493	DOLK	22845	HP:0001645	Sudden cardiac death
OMIM:601493	MIB1	57534	HP:0001712	Left ventricular hypertrophy
OMIM:601493	MIB1	57534	HP:0001644	Dilated cardiomyopathy
OMIM:601493	MIB1	57534	HP:0004308	Ventricular arrhythmia
OMIM:601493	MIB1	57534	HP:0000006	Autosomal dominant inheritance
OMIM:601493	MIB1	57534	HP:0001635	Congestive heart failure
OMIM:601493	MIB1	57534	HP:0001645	Sudden cardiac death
OMIM:601493	MYBPC3	4607	HP:0001712	Left ventricular hypertrophy
OMIM:601493	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:601493	MYBPC3	4607	HP:0004308	Ventricular arrhythmia
OMIM:601493	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:601493	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:601493	MYBPC3	4607	HP:0001645	Sudden cardiac death
OMIM:610353	CRH	1392	HP:0000708	Behavioral abnormality
OMIM:610353	CRH	1392	HP:0001250	Seizures
OMIM:610353	CRH	1392	HP:0000006	Autosomal dominant inheritance
OMIM:610353	CHRNA4	1137	HP:0000708	Behavioral abnormality
OMIM:610353	CHRNA4	1137	HP:0001250	Seizures
OMIM:610353	CHRNA4	1137	HP:0000006	Autosomal dominant inheritance
OMIM:610353	DEPDC5	9681	HP:0000708	Behavioral abnormality
OMIM:610353	DEPDC5	9681	HP:0001250	Seizures
OMIM:610353	DEPDC5	9681	HP:0000006	Autosomal dominant inheritance
OMIM:610353	CHRNB2	1141	HP:0000708	Behavioral abnormality
OMIM:610353	CHRNB2	1141	HP:0001250	Seizures
OMIM:610353	CHRNB2	1141	HP:0000006	Autosomal dominant inheritance
OMIM:610353	KCNT1	57582	HP:0000708	Behavioral abnormality
OMIM:610353	KCNT1	57582	HP:0001250	Seizures
OMIM:610353	KCNT1	57582	HP:0000006	Autosomal dominant inheritance
OMIM:610353	CHRNA2	1135	HP:0000708	Behavioral abnormality
OMIM:610353	CHRNA2	1135	HP:0001250	Seizures
OMIM:610353	CHRNA2	1135	HP:0000006	Autosomal dominant inheritance
OMIM:616006	FAT4	79633	HP:0012368	Flat face
OMIM:616006	FAT4	79633	HP:0008551	Microtia
OMIM:616006	FAT4	79633	HP:0001510	Growth delay
OMIM:616006	FAT4	79633	HP:0000365	Hearing impairment
OMIM:616006	FAT4	79633	HP:0000160	Narrow mouth
OMIM:616006	FAT4	79633	HP:0005280	Depressed nasal bridge
OMIM:616006	FAT4	79633	HP:0001004	Lymphedema
OMIM:616006	FAT4	79633	HP:0000581	Blepharophimosis
OMIM:616006	FAT4	79633	HP:0012385	Camptodactyly
OMIM:616006	FAT4	79633	HP:0000286	Epicanthus
OMIM:616006	FAT4	79633	HP:0000316	Hypertelorism
OMIM:616006	CCBE1	147372	HP:0012368	Flat face
OMIM:616006	CCBE1	147372	HP:0008551	Microtia
OMIM:616006	CCBE1	147372	HP:0001510	Growth delay
OMIM:616006	CCBE1	147372	HP:0000365	Hearing impairment
OMIM:616006	CCBE1	147372	HP:0000160	Narrow mouth
OMIM:616006	CCBE1	147372	HP:0005280	Depressed nasal bridge
OMIM:616006	CCBE1	147372	HP:0001004	Lymphedema
OMIM:616006	CCBE1	147372	HP:0000581	Blepharophimosis
OMIM:616006	CCBE1	147372	HP:0012385	Camptodactyly
OMIM:616006	CCBE1	147372	HP:0000286	Epicanthus
OMIM:616006	CCBE1	147372	HP:0000316	Hypertelorism
OMIM:608600	LMNA	4000	HP:0000822	Hypertension
OMIM:608600	LMNA	4000	HP:0001733	Pancreatitis
OMIM:608600	LMNA	4000	HP:0000956	Acanthosis nigricans
OMIM:608600	LMNA	4000	HP:0001397	Hepatic steatosis
OMIM:608600	LMNA	4000	HP:0002240	Hepatomegaly
OMIM:608600	LMNA	4000	HP:0000842	Hyperinsulinemia
OMIM:608600	LMNA	4000	HP:0009017	Loss of gluteal subcutaneous adipose tissue
OMIM:608600	LMNA	4000	HP:0001677	Coronary artery disease
OMIM:608600	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:608600	LMNA	4000	HP:0003011	Abnormality of the musculature
OMIM:608600	LMNA	4000	HP:0000147	Polycystic ovaries
OMIM:608600	LMNA	4000	HP:0003074	Hyperglycemia
OMIM:608600	LMNA	4000	HP:0002155	Hypertriglyceridemia
OMIM:608600	LMNA	4000	HP:0000855	Insulin resistance
OMIM:608600	LMNA	4000	HP:0003621	Juvenile onset
OMIM:608600	LMNA	4000	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:608600	LMNA	4000	HP:0100578	Lipoatrophy
OMIM:608600	LMNA	4000	HP:0000991	Xanthomatosis
OMIM:608600	LMNA	4000	HP:0001015	Prominent superficial veins
OMIM:608600	LMNA	4000	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:147060	STAT3	6774	HP:0006335	Persistence of primary teeth
OMIM:147060	STAT3	6774	HP:0000989	Pruritus
OMIM:147060	STAT3	6774	HP:0002007	Frontal bossing
OMIM:147060	STAT3	6774	HP:0000280	Coarse facial features
OMIM:147060	STAT3	6774	HP:0001363	Craniosynostosis
OMIM:147060	STAT3	6774	HP:0000316	Hypertelorism
OMIM:147060	STAT3	6774	HP:0000218	High palate
OMIM:147060	STAT3	6774	HP:0011220	Prominent forehead
OMIM:147060	STAT3	6774	HP:0000230	Gingivitis
OMIM:147060	STAT3	6774	HP:0002665	Lymphoma
OMIM:147060	STAT3	6774	HP:0002757	Recurrent fractures
OMIM:147060	STAT3	6774	HP:0001818	Paronychia
OMIM:147060	STAT3	6774	HP:0004349	Reduced bone mineral density
OMIM:147060	STAT3	6774	HP:0200042	Skin ulcer
OMIM:147060	STAT3	6774	HP:0000976	Eczematoid dermatitis
OMIM:147060	STAT3	6774	HP:0002617	Aneurysm
OMIM:147060	STAT3	6774	HP:0000445	Wide nose
OMIM:147060	STAT3	6774	HP:0000988	Skin rash
OMIM:147060	STAT3	6774	HP:0002754	Osteomyelitis
OMIM:147060	STAT3	6774	HP:0001879	Abnormality of eosinophils
OMIM:147060	STAT3	6774	HP:0001231	Abnormality of the fingernails
OMIM:147060	STAT3	6774	HP:0000175	Cleft palate
OMIM:147060	STAT3	6774	HP:0100658	Cellulitis
OMIM:147060	STAT3	6774	HP:0000388	Otitis media
OMIM:147060	STAT3	6774	HP:0004370	Abnormality of temperature regulation
OMIM:147060	STAT3	6774	HP:0001382	Joint hypermobility
OMIM:147060	STAT3	6774	HP:0001880	Eosinophilia
OMIM:147060	STAT3	6774	HP:0100750	Atelectasis
OMIM:147060	STAT3	6774	HP:0003593	Infantile onset
OMIM:147060	STAT3	6774	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:147060	STAT3	6774	HP:0000684	Delayed eruption of teeth
OMIM:147060	STAT3	6774	HP:0000938	Osteopenia
OMIM:147060	STAT3	6774	HP:0000006	Autosomal dominant inheritance
OMIM:147060	STAT3	6774	HP:0002841	Recurrent fungal infections
OMIM:147060	STAT3	6774	HP:0000366	Abnormality of the nose
OMIM:147060	STAT3	6774	HP:0002650	Scoliosis
OMIM:147060	STAT3	6774	HP:0000490	Deeply set eye
OMIM:607594	CD19	930	HP:0004315	IgG deficiency
OMIM:607594	CD19	930	HP:0000007	Autosomal recessive inheritance
OMIM:607594	CD19	930	HP:0002716	Lymphadenopathy
OMIM:607594	CD19	930	HP:0002837	Recurrent bronchitis
OMIM:607594	CD19	930	HP:0005435	Impaired T cell function
OMIM:607594	CD19	930	HP:0002014	Diarrhea
OMIM:607594	CD19	930	HP:0002110	Bronchiectasis
OMIM:607594	CD19	930	HP:0000403	Recurrent otitis media
OMIM:607594	CD19	930	HP:0000509	Conjunctivitis
OMIM:607594	CD19	930	HP:0010976	B lymphocytopenia
OMIM:607594	CD19	930	HP:0002240	Hepatomegaly
OMIM:607594	CD19	930	HP:0002718	Recurrent bacterial infections
OMIM:607594	CD19	930	HP:0001744	Splenomegaly
OMIM:607594	CD19	930	HP:0002721	Immunodeficiency
OMIM:607594	CD19	930	HP:0006532	Recurrent pneumonia
OMIM:607594	CD19	930	HP:0011108	Recurrent sinusitis
OMIM:607594	TNFRSF13C	115650	HP:0004315	IgG deficiency
OMIM:607594	TNFRSF13C	115650	HP:0000007	Autosomal recessive inheritance
OMIM:607594	TNFRSF13C	115650	HP:0002716	Lymphadenopathy
OMIM:607594	TNFRSF13C	115650	HP:0002837	Recurrent bronchitis
OMIM:607594	TNFRSF13C	115650	HP:0005435	Impaired T cell function
OMIM:607594	TNFRSF13C	115650	HP:0002014	Diarrhea
OMIM:607594	TNFRSF13C	115650	HP:0002110	Bronchiectasis
OMIM:607594	TNFRSF13C	115650	HP:0000403	Recurrent otitis media
OMIM:607594	TNFRSF13C	115650	HP:0000509	Conjunctivitis
OMIM:607594	TNFRSF13C	115650	HP:0010976	B lymphocytopenia
OMIM:607594	TNFRSF13C	115650	HP:0002240	Hepatomegaly
OMIM:607594	TNFRSF13C	115650	HP:0002718	Recurrent bacterial infections
OMIM:607594	TNFRSF13C	115650	HP:0001744	Splenomegaly
OMIM:607594	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:607594	TNFRSF13C	115650	HP:0006532	Recurrent pneumonia
OMIM:607594	TNFRSF13C	115650	HP:0011108	Recurrent sinusitis
OMIM:607594	MS4A1	931	HP:0004315	IgG deficiency
OMIM:607594	MS4A1	931	HP:0000007	Autosomal recessive inheritance
OMIM:607594	MS4A1	931	HP:0002716	Lymphadenopathy
OMIM:607594	MS4A1	931	HP:0002837	Recurrent bronchitis
OMIM:607594	MS4A1	931	HP:0005435	Impaired T cell function
OMIM:607594	MS4A1	931	HP:0002014	Diarrhea
OMIM:607594	MS4A1	931	HP:0002110	Bronchiectasis
OMIM:607594	MS4A1	931	HP:0000403	Recurrent otitis media
OMIM:607594	MS4A1	931	HP:0000509	Conjunctivitis
OMIM:607594	MS4A1	931	HP:0010976	B lymphocytopenia
OMIM:607594	MS4A1	931	HP:0002240	Hepatomegaly
OMIM:607594	MS4A1	931	HP:0002718	Recurrent bacterial infections
OMIM:607594	MS4A1	931	HP:0001744	Splenomegaly
OMIM:607594	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:607594	MS4A1	931	HP:0006532	Recurrent pneumonia
OMIM:607594	MS4A1	931	HP:0011108	Recurrent sinusitis
OMIM:607594	CR2	1380	HP:0004315	IgG deficiency
OMIM:607594	CR2	1380	HP:0000007	Autosomal recessive inheritance
OMIM:607594	CR2	1380	HP:0002716	Lymphadenopathy
OMIM:607594	CR2	1380	HP:0002837	Recurrent bronchitis
OMIM:607594	CR2	1380	HP:0005435	Impaired T cell function
OMIM:607594	CR2	1380	HP:0002014	Diarrhea
OMIM:607594	CR2	1380	HP:0002110	Bronchiectasis
OMIM:607594	CR2	1380	HP:0000403	Recurrent otitis media
OMIM:607594	CR2	1380	HP:0000509	Conjunctivitis
OMIM:607594	CR2	1380	HP:0010976	B lymphocytopenia
OMIM:607594	CR2	1380	HP:0002240	Hepatomegaly
OMIM:607594	CR2	1380	HP:0002718	Recurrent bacterial infections
OMIM:607594	CR2	1380	HP:0001744	Splenomegaly
OMIM:607594	CR2	1380	HP:0002721	Immunodeficiency
OMIM:607594	CR2	1380	HP:0006532	Recurrent pneumonia
OMIM:607594	CR2	1380	HP:0011108	Recurrent sinusitis
OMIM:607594	TNFSF12	8742	HP:0004315	IgG deficiency
OMIM:607594	TNFSF12	8742	HP:0000007	Autosomal recessive inheritance
OMIM:607594	TNFSF12	8742	HP:0002716	Lymphadenopathy
OMIM:607594	TNFSF12	8742	HP:0002837	Recurrent bronchitis
OMIM:607594	TNFSF12	8742	HP:0005435	Impaired T cell function
OMIM:607594	TNFSF12	8742	HP:0002014	Diarrhea
OMIM:607594	TNFSF12	8742	HP:0002110	Bronchiectasis
OMIM:607594	TNFSF12	8742	HP:0000403	Recurrent otitis media
OMIM:607594	TNFSF12	8742	HP:0000509	Conjunctivitis
OMIM:607594	TNFSF12	8742	HP:0010976	B lymphocytopenia
OMIM:607594	TNFSF12	8742	HP:0002240	Hepatomegaly
OMIM:607594	TNFSF12	8742	HP:0002718	Recurrent bacterial infections
OMIM:607594	TNFSF12	8742	HP:0001744	Splenomegaly
OMIM:607594	TNFSF12	8742	HP:0002721	Immunodeficiency
OMIM:607594	TNFSF12	8742	HP:0006532	Recurrent pneumonia
OMIM:607594	TNFSF12	8742	HP:0011108	Recurrent sinusitis
OMIM:607594	NFKB1	4790	HP:0004315	IgG deficiency
OMIM:607594	NFKB1	4790	HP:0000007	Autosomal recessive inheritance
OMIM:607594	NFKB1	4790	HP:0002716	Lymphadenopathy
OMIM:607594	NFKB1	4790	HP:0002837	Recurrent bronchitis
OMIM:607594	NFKB1	4790	HP:0005435	Impaired T cell function
OMIM:607594	NFKB1	4790	HP:0002014	Diarrhea
OMIM:607594	NFKB1	4790	HP:0002110	Bronchiectasis
OMIM:607594	NFKB1	4790	HP:0000403	Recurrent otitis media
OMIM:607594	NFKB1	4790	HP:0000509	Conjunctivitis
OMIM:607594	NFKB1	4790	HP:0010976	B lymphocytopenia
OMIM:607594	NFKB1	4790	HP:0002240	Hepatomegaly
OMIM:607594	NFKB1	4790	HP:0002718	Recurrent bacterial infections
OMIM:607594	NFKB1	4790	HP:0001744	Splenomegaly
OMIM:607594	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:607594	NFKB1	4790	HP:0006532	Recurrent pneumonia
OMIM:607594	NFKB1	4790	HP:0011108	Recurrent sinusitis
OMIM:607594	TNFRSF13B	23495	HP:0004315	IgG deficiency
OMIM:607594	TNFRSF13B	23495	HP:0000007	Autosomal recessive inheritance
OMIM:607594	TNFRSF13B	23495	HP:0002716	Lymphadenopathy
OMIM:607594	TNFRSF13B	23495	HP:0002837	Recurrent bronchitis
OMIM:607594	TNFRSF13B	23495	HP:0005435	Impaired T cell function
OMIM:607594	TNFRSF13B	23495	HP:0002014	Diarrhea
OMIM:607594	TNFRSF13B	23495	HP:0002110	Bronchiectasis
OMIM:607594	TNFRSF13B	23495	HP:0000403	Recurrent otitis media
OMIM:607594	TNFRSF13B	23495	HP:0000509	Conjunctivitis
OMIM:607594	TNFRSF13B	23495	HP:0010976	B lymphocytopenia
OMIM:607594	TNFRSF13B	23495	HP:0002240	Hepatomegaly
OMIM:607594	TNFRSF13B	23495	HP:0002718	Recurrent bacterial infections
OMIM:607594	TNFRSF13B	23495	HP:0001744	Splenomegaly
OMIM:607594	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:607594	TNFRSF13B	23495	HP:0006532	Recurrent pneumonia
OMIM:607594	TNFRSF13B	23495	HP:0011108	Recurrent sinusitis
OMIM:607594	NFKB2	4791	HP:0004315	IgG deficiency
OMIM:607594	NFKB2	4791	HP:0000007	Autosomal recessive inheritance
OMIM:607594	NFKB2	4791	HP:0002716	Lymphadenopathy
OMIM:607594	NFKB2	4791	HP:0002837	Recurrent bronchitis
OMIM:607594	NFKB2	4791	HP:0005435	Impaired T cell function
OMIM:607594	NFKB2	4791	HP:0002014	Diarrhea
OMIM:607594	NFKB2	4791	HP:0002110	Bronchiectasis
OMIM:607594	NFKB2	4791	HP:0000403	Recurrent otitis media
OMIM:607594	NFKB2	4791	HP:0000509	Conjunctivitis
OMIM:607594	NFKB2	4791	HP:0010976	B lymphocytopenia
OMIM:607594	NFKB2	4791	HP:0002240	Hepatomegaly
OMIM:607594	NFKB2	4791	HP:0002718	Recurrent bacterial infections
OMIM:607594	NFKB2	4791	HP:0001744	Splenomegaly
OMIM:607594	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:607594	NFKB2	4791	HP:0006532	Recurrent pneumonia
OMIM:607594	NFKB2	4791	HP:0011108	Recurrent sinusitis
OMIM:607594	ICOS	29851	HP:0004315	IgG deficiency
OMIM:607594	ICOS	29851	HP:0000007	Autosomal recessive inheritance
OMIM:607594	ICOS	29851	HP:0002716	Lymphadenopathy
OMIM:607594	ICOS	29851	HP:0002837	Recurrent bronchitis
OMIM:607594	ICOS	29851	HP:0005435	Impaired T cell function
OMIM:607594	ICOS	29851	HP:0002014	Diarrhea
OMIM:607594	ICOS	29851	HP:0002110	Bronchiectasis
OMIM:607594	ICOS	29851	HP:0000403	Recurrent otitis media
OMIM:607594	ICOS	29851	HP:0000509	Conjunctivitis
OMIM:607594	ICOS	29851	HP:0010976	B lymphocytopenia
OMIM:607594	ICOS	29851	HP:0002240	Hepatomegaly
OMIM:607594	ICOS	29851	HP:0002718	Recurrent bacterial infections
OMIM:607594	ICOS	29851	HP:0001744	Splenomegaly
OMIM:607594	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:607594	ICOS	29851	HP:0006532	Recurrent pneumonia
OMIM:607594	ICOS	29851	HP:0011108	Recurrent sinusitis
OMIM:607594	LRBA	987	HP:0004315	IgG deficiency
OMIM:607594	LRBA	987	HP:0000007	Autosomal recessive inheritance
OMIM:607594	LRBA	987	HP:0002716	Lymphadenopathy
OMIM:607594	LRBA	987	HP:0002837	Recurrent bronchitis
OMIM:607594	LRBA	987	HP:0005435	Impaired T cell function
OMIM:607594	LRBA	987	HP:0002014	Diarrhea
OMIM:607594	LRBA	987	HP:0002110	Bronchiectasis
OMIM:607594	LRBA	987	HP:0000403	Recurrent otitis media
OMIM:607594	LRBA	987	HP:0000509	Conjunctivitis
OMIM:607594	LRBA	987	HP:0010976	B lymphocytopenia
OMIM:607594	LRBA	987	HP:0002240	Hepatomegaly
OMIM:607594	LRBA	987	HP:0002718	Recurrent bacterial infections
OMIM:607594	LRBA	987	HP:0001744	Splenomegaly
OMIM:607594	LRBA	987	HP:0002721	Immunodeficiency
OMIM:607594	LRBA	987	HP:0006532	Recurrent pneumonia
OMIM:607594	LRBA	987	HP:0011108	Recurrent sinusitis
OMIM:607594	PRKCD	5580	HP:0004315	IgG deficiency
OMIM:607594	PRKCD	5580	HP:0000007	Autosomal recessive inheritance
OMIM:607594	PRKCD	5580	HP:0002716	Lymphadenopathy
OMIM:607594	PRKCD	5580	HP:0002837	Recurrent bronchitis
OMIM:607594	PRKCD	5580	HP:0005435	Impaired T cell function
OMIM:607594	PRKCD	5580	HP:0002014	Diarrhea
OMIM:607594	PRKCD	5580	HP:0002110	Bronchiectasis
OMIM:607594	PRKCD	5580	HP:0000403	Recurrent otitis media
OMIM:607594	PRKCD	5580	HP:0000509	Conjunctivitis
OMIM:607594	PRKCD	5580	HP:0010976	B lymphocytopenia
OMIM:607594	PRKCD	5580	HP:0002240	Hepatomegaly
OMIM:607594	PRKCD	5580	HP:0002718	Recurrent bacterial infections
OMIM:607594	PRKCD	5580	HP:0001744	Splenomegaly
OMIM:607594	PRKCD	5580	HP:0002721	Immunodeficiency
OMIM:607594	PRKCD	5580	HP:0006532	Recurrent pneumonia
OMIM:607594	PRKCD	5580	HP:0011108	Recurrent sinusitis
OMIM:607594	CD81	975	HP:0004315	IgG deficiency
OMIM:607594	CD81	975	HP:0000007	Autosomal recessive inheritance
OMIM:607594	CD81	975	HP:0002716	Lymphadenopathy
OMIM:607594	CD81	975	HP:0002837	Recurrent bronchitis
OMIM:607594	CD81	975	HP:0005435	Impaired T cell function
OMIM:607594	CD81	975	HP:0002014	Diarrhea
OMIM:607594	CD81	975	HP:0002110	Bronchiectasis
OMIM:607594	CD81	975	HP:0000403	Recurrent otitis media
OMIM:607594	CD81	975	HP:0000509	Conjunctivitis
OMIM:607594	CD81	975	HP:0010976	B lymphocytopenia
OMIM:607594	CD81	975	HP:0002240	Hepatomegaly
OMIM:607594	CD81	975	HP:0002718	Recurrent bacterial infections
OMIM:607594	CD81	975	HP:0001744	Splenomegaly
OMIM:607594	CD81	975	HP:0002721	Immunodeficiency
OMIM:607594	CD81	975	HP:0006532	Recurrent pneumonia
OMIM:607594	CD81	975	HP:0011108	Recurrent sinusitis
OMIM:604307	CRYAB	1410	HP:0000646	Amblyopia
OMIM:604307	CRYAB	1410	HP:0008024	Congenital nuclear cataract
OMIM:604307	CRYAB	1410	HP:0000482	Microcornea
OMIM:604307	CRYAB	1410	HP:0000639	Nystagmus
OMIM:604307	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:604307	CRYAB	1410	HP:0000613	Photophobia
OMIM:604307	CRYAB	1410	HP:0000505	Visual impairment
OMIM:604307	CRYBA1	1411	HP:0000646	Amblyopia
OMIM:604307	CRYBA1	1411	HP:0008024	Congenital nuclear cataract
OMIM:604307	CRYBA1	1411	HP:0000482	Microcornea
OMIM:604307	CRYBA1	1411	HP:0000639	Nystagmus
OMIM:604307	CRYBA1	1411	HP:0000006	Autosomal dominant inheritance
OMIM:604307	CRYBA1	1411	HP:0000613	Photophobia
OMIM:604307	CRYBA1	1411	HP:0000505	Visual impairment
OMIM:604307	HSF4	3299	HP:0000646	Amblyopia
OMIM:604307	HSF4	3299	HP:0008024	Congenital nuclear cataract
OMIM:604307	HSF4	3299	HP:0000482	Microcornea
OMIM:604307	HSF4	3299	HP:0000639	Nystagmus
OMIM:604307	HSF4	3299	HP:0000006	Autosomal dominant inheritance
OMIM:604307	HSF4	3299	HP:0000613	Photophobia
OMIM:604307	HSF4	3299	HP:0000505	Visual impairment
OMIM:604307	CRYBA2	1412	HP:0000646	Amblyopia
OMIM:604307	CRYBA2	1412	HP:0008024	Congenital nuclear cataract
OMIM:604307	CRYBA2	1412	HP:0000482	Microcornea
OMIM:604307	CRYBA2	1412	HP:0000639	Nystagmus
OMIM:604307	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:604307	CRYBA2	1412	HP:0000613	Photophobia
OMIM:604307	CRYBA2	1412	HP:0000505	Visual impairment
OMIM:604307	CRYBA4	1413	HP:0000646	Amblyopia
OMIM:604307	CRYBA4	1413	HP:0008024	Congenital nuclear cataract
OMIM:604307	CRYBA4	1413	HP:0000482	Microcornea
OMIM:604307	CRYBA4	1413	HP:0000639	Nystagmus
OMIM:604307	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:604307	CRYBA4	1413	HP:0000613	Photophobia
OMIM:604307	CRYBA4	1413	HP:0000505	Visual impairment
OMIM:604307	CRYBB1	1414	HP:0000646	Amblyopia
OMIM:604307	CRYBB1	1414	HP:0008024	Congenital nuclear cataract
OMIM:604307	CRYBB1	1414	HP:0000482	Microcornea
OMIM:604307	CRYBB1	1414	HP:0000639	Nystagmus
OMIM:604307	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:604307	CRYBB1	1414	HP:0000613	Photophobia
OMIM:604307	CRYBB1	1414	HP:0000505	Visual impairment
OMIM:604307	AGK	55750	HP:0000646	Amblyopia
OMIM:604307	AGK	55750	HP:0008024	Congenital nuclear cataract
OMIM:604307	AGK	55750	HP:0000482	Microcornea
OMIM:604307	AGK	55750	HP:0000639	Nystagmus
OMIM:604307	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:604307	AGK	55750	HP:0000613	Photophobia
OMIM:604307	AGK	55750	HP:0000505	Visual impairment
OMIM:604307	CRYBB2	1415	HP:0000646	Amblyopia
OMIM:604307	CRYBB2	1415	HP:0008024	Congenital nuclear cataract
OMIM:604307	CRYBB2	1415	HP:0000482	Microcornea
OMIM:604307	CRYBB2	1415	HP:0000639	Nystagmus
OMIM:604307	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:604307	CRYBB2	1415	HP:0000613	Photophobia
OMIM:604307	CRYBB2	1415	HP:0000505	Visual impairment
OMIM:604307	VIM	7431	HP:0000646	Amblyopia
OMIM:604307	VIM	7431	HP:0008024	Congenital nuclear cataract
OMIM:604307	VIM	7431	HP:0000482	Microcornea
OMIM:604307	VIM	7431	HP:0000639	Nystagmus
OMIM:604307	VIM	7431	HP:0000006	Autosomal dominant inheritance
OMIM:604307	VIM	7431	HP:0000613	Photophobia
OMIM:604307	VIM	7431	HP:0000505	Visual impairment
OMIM:604307	CRYGB	1419	HP:0000646	Amblyopia
OMIM:604307	CRYGB	1419	HP:0008024	Congenital nuclear cataract
OMIM:604307	CRYGB	1419	HP:0000482	Microcornea
OMIM:604307	CRYGB	1419	HP:0000639	Nystagmus
OMIM:604307	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:604307	CRYGB	1419	HP:0000613	Photophobia
OMIM:604307	CRYGB	1419	HP:0000505	Visual impairment
OMIM:604307	CRYGC	1420	HP:0000646	Amblyopia
OMIM:604307	CRYGC	1420	HP:0008024	Congenital nuclear cataract
OMIM:604307	CRYGC	1420	HP:0000482	Microcornea
OMIM:604307	CRYGC	1420	HP:0000639	Nystagmus
OMIM:604307	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:604307	CRYGC	1420	HP:0000613	Photophobia
OMIM:604307	CRYGC	1420	HP:0000505	Visual impairment
OMIM:604307	GJA3	2700	HP:0000646	Amblyopia
OMIM:604307	GJA3	2700	HP:0008024	Congenital nuclear cataract
OMIM:604307	GJA3	2700	HP:0000482	Microcornea
OMIM:604307	GJA3	2700	HP:0000639	Nystagmus
OMIM:604307	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:604307	GJA3	2700	HP:0000613	Photophobia
OMIM:604307	GJA3	2700	HP:0000505	Visual impairment
OMIM:604307	CRYGD	1421	HP:0000646	Amblyopia
OMIM:604307	CRYGD	1421	HP:0008024	Congenital nuclear cataract
OMIM:604307	CRYGD	1421	HP:0000482	Microcornea
OMIM:604307	CRYGD	1421	HP:0000639	Nystagmus
OMIM:604307	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:604307	CRYGD	1421	HP:0000613	Photophobia
OMIM:604307	CRYGD	1421	HP:0000505	Visual impairment
OMIM:604307	LIM2	3982	HP:0000646	Amblyopia
OMIM:604307	LIM2	3982	HP:0008024	Congenital nuclear cataract
OMIM:604307	LIM2	3982	HP:0000482	Microcornea
OMIM:604307	LIM2	3982	HP:0000639	Nystagmus
OMIM:604307	LIM2	3982	HP:0000006	Autosomal dominant inheritance
OMIM:604307	LIM2	3982	HP:0000613	Photophobia
OMIM:604307	LIM2	3982	HP:0000505	Visual impairment
OMIM:604307	GJA8	2703	HP:0000646	Amblyopia
OMIM:604307	GJA8	2703	HP:0008024	Congenital nuclear cataract
OMIM:604307	GJA8	2703	HP:0000482	Microcornea
OMIM:604307	GJA8	2703	HP:0000639	Nystagmus
OMIM:604307	GJA8	2703	HP:0000006	Autosomal dominant inheritance
OMIM:604307	GJA8	2703	HP:0000613	Photophobia
OMIM:604307	GJA8	2703	HP:0000505	Visual impairment
OMIM:604307	GCNT2	2651	HP:0000646	Amblyopia
OMIM:604307	GCNT2	2651	HP:0008024	Congenital nuclear cataract
OMIM:604307	GCNT2	2651	HP:0000482	Microcornea
OMIM:604307	GCNT2	2651	HP:0000639	Nystagmus
OMIM:604307	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:604307	GCNT2	2651	HP:0000613	Photophobia
OMIM:604307	GCNT2	2651	HP:0000505	Visual impairment
OMIM:604307	MAF	4094	HP:0000646	Amblyopia
OMIM:604307	MAF	4094	HP:0008024	Congenital nuclear cataract
OMIM:604307	MAF	4094	HP:0000482	Microcornea
OMIM:604307	MAF	4094	HP:0000639	Nystagmus
OMIM:604307	MAF	4094	HP:0000006	Autosomal dominant inheritance
OMIM:604307	MAF	4094	HP:0000613	Photophobia
OMIM:604307	MAF	4094	HP:0000505	Visual impairment
OMIM:200500	LMBR1	64327	HP:0003974	Absent radius
OMIM:200500	LMBR1	64327	HP:0000007	Autosomal recessive inheritance
OMIM:200500	LMBR1	64327	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:200500	LMBR1	64327	HP:0005792	Short humerus
OMIM:200500	LMBR1	64327	HP:0002992	Abnormality of the tibia
OMIM:200500	LMBR1	64327	HP:0003063	Abnormality of the humerus
OMIM:200500	LMBR1	64327	HP:0002997	Abnormality of the ulna
OMIM:200500	LMBR1	64327	HP:0010048	Aplasia of metacarpal bones
OMIM:200500	LMBR1	64327	HP:0010760	Absent toe
OMIM:200500	LMBR1	64327	HP:0005736	Short tibia
OMIM:200500	LMBR1	64327	HP:0000944	Abnormality of the metaphyses
OMIM:200500	LMBR1	64327	HP:0009802	Aplasia of the phalanges of the hand
OMIM:200500	LMBR1	64327	HP:0005930	Abnormality of epiphysis morphology
OMIM:614889	IFNGR2	3460	HP:0000007	Autosomal recessive inheritance
OMIM:614889	IFNGR2	3460	HP:0002721	Immunodeficiency
OMIM:614889	IFNGR2	3460	HP:0011274	Recurrent mycobacterial infections
OMIM:613882	CNNM2	54805	HP:0002315	Headache
OMIM:613882	CNNM2	54805	HP:0000006	Autosomal dominant inheritance
OMIM:613882	CNNM2	54805	HP:0001324	Muscle weakness
OMIM:613882	CNNM2	54805	HP:0002321	Vertigo
OMIM:613882	EGF	1950	HP:0002315	Headache
OMIM:613882	EGF	1950	HP:0000006	Autosomal dominant inheritance
OMIM:613882	EGF	1950	HP:0001324	Muscle weakness
OMIM:613882	EGF	1950	HP:0002321	Vertigo
OMIM:300243	SLC9A6	10479	HP:0000252	Microcephaly
OMIM:300243	SLC9A6	10479	HP:0002167	Neurological speech impairment
OMIM:300243	SLC9A6	10479	HP:0008872	Feeding difficulties in infancy
OMIM:300243	SLC9A6	10479	HP:0001288	Gait disturbance
OMIM:300243	SLC9A6	10479	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:300243	SLC9A6	10479	HP:0001250	Seizures
OMIM:300243	SLC9A6	10479	HP:0000275	Narrow face
OMIM:300243	SLC9A6	10479	HP:0000486	Strabismus
OMIM:300243	SLC9A6	10479	HP:0000574	Thick eyebrow
OMIM:300243	SLC9A6	10479	HP:0000276	Long face
OMIM:300243	SLC9A6	10479	HP:0003189	Long nose
OMIM:300243	SLC9A6	10479	HP:0003202	Skeletal muscle atrophy
OMIM:300243	SLC9A6	10479	HP:0000303	Mandibular prognathia
OMIM:300243	SLC9A6	10479	HP:0001423	X-linked dominant inheritance
OMIM:300243	SLC9A6	10479	HP:0000639	Nystagmus
OMIM:300243	SLC9A6	10479	HP:0002607	Bowel incontinence
OMIM:300243	SLC9A6	10479	HP:0000602	Ophthalmoplegia
OMIM:300243	SLC9A6	10479	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:300243	SLC9A6	10479	HP:0000597	Ophthalmoparesis
OMIM:300243	SLC9A6	10479	HP:0002120	Cerebral cortical atrophy
OMIM:300243	SLC9A6	10479	HP:0004325	Decreased body weight
OMIM:300243	SLC9A6	10479	HP:0000400	Macrotia
OMIM:300243	SLC9A6	10479	HP:0000767	Pectus excavatum
OMIM:300243	SLC9A6	10479	HP:0001181	Adducted thumb
OMIM:300243	SLC9A6	10479	HP:0002119	Ventriculomegaly
OMIM:300243	SLC9A6	10479	HP:0000490	Deeply set eye
OMIM:300243	SLC9A6	10479	HP:0000194	Open mouth
OMIM:300243	SLC9A6	10479	HP:0000717	Autism
OMIM:300243	SLC9A6	10479	HP:0002307	Drooling
OMIM:300243	SLC9A6	10479	HP:0001238	Slender finger
OMIM:300243	SLC9A6	10479	HP:0001263	Global developmental delay
OMIM:300243	SLC9A6	10479	HP:0000774	Narrow chest
OMIM:300243	SLC9A6	10479	HP:0000020	Urinary incontinence
OMIM:300243	SLC9A6	10479	HP:0002311	Incoordination
OMIM:300243	SLC9A6	10479	HP:0001371	Flexion contracture
OMIM:300243	SLC9A6	10479	HP:0006887	Intellectual disability, progressive
OMIM:300243	SLC9A6	10479	HP:0002804	Arthrogryposis multiplex congenita
OMIM:300243	SLC9A6	10479	HP:0002015	Dysphagia
OMIM:300243	SLC9A6	10479	HP:0001344	Absent speech
OMIM:300243	SLC9A6	10479	HP:0002078	Truncal ataxia
OMIM:300243	SLC9A6	10479	HP:0002360	Sleep disturbance
OMIM:300243	SLC9A6	10479	HP:0001272	Cerebellar atrophy
OMIM:300243	SLC9A6	10479	HP:0001382	Joint hypermobility
OMIM:300243	SLC9A6	10479	HP:0002529	Neuronal loss in central nervous system
OMIM:300243	SLC9A6	10479	HP:0001252	Muscular hypotonia
OMIM:300243	SLC9A6	10479	HP:0010864	Intellectual disability, severe
OMIM:300243	SLC9A6	10479	HP:0001760	Abnormality of the foot
OMIM:300243	SLC9A6	10479	HP:0100543	Cognitive impairment
OMIM:300957	THOC2	57187	HP:0004322	Short stature
OMIM:300957	THOC2	57187	HP:0001252	Muscular hypotonia
OMIM:300957	THOC2	57187	HP:0001956	Truncal obesity
OMIM:300957	THOC2	57187	HP:0001249	Intellectual disability
OMIM:300957	THOC2	57187	HP:0001321	Cerebellar hypoplasia
OMIM:300957	THOC2	57187	HP:0030260	Microphallus
OMIM:300957	THOC2	57187	HP:0000252	Microcephaly
OMIM:300957	THOC2	57187	HP:0001288	Gait disturbance
OMIM:300957	THOC2	57187	HP:0001337	Tremor
OMIM:249270	SLC19A2	10560	HP:0002020	Gastroesophageal reflux
OMIM:249270	SLC19A2	10560	HP:0001251	Ataxia
OMIM:249270	SLC19A2	10560	HP:0001638	Cardiomyopathy
OMIM:249270	SLC19A2	10560	HP:0001629	Ventricular septal defect
OMIM:249270	SLC19A2	10560	HP:0001635	Congestive heart failure
OMIM:249270	SLC19A2	10560	HP:0001873	Thrombocytopenia
OMIM:249270	SLC19A2	10560	HP:0007703	Abnormality of retinal pigmentation
OMIM:249270	SLC19A2	10560	HP:0001645	Sudden cardiac death
OMIM:249270	SLC19A2	10560	HP:0000546	Retinal degeneration
OMIM:249270	SLC19A2	10560	HP:0000951	Abnormality of the skin
OMIM:249270	SLC19A2	10560	HP:0011675	Arrhythmia
OMIM:249270	SLC19A2	10560	HP:0000648	Optic atrophy
OMIM:249270	SLC19A2	10560	HP:0001972	Macrocytic anemia
OMIM:249270	SLC19A2	10560	HP:0001631	Atria septal defect
OMIM:249270	SLC19A2	10560	HP:0000505	Visual impairment
OMIM:249270	SLC19A2	10560	HP:0001297	Stroke
OMIM:249270	SLC19A2	10560	HP:0004322	Short stature
OMIM:249270	SLC19A2	10560	HP:0000407	Sensorineural hearing impairment
OMIM:249270	SLC19A2	10560	HP:0000819	Diabetes mellitus
OMIM:249270	SLC19A2	10560	HP:0001696	Situs inversus totalis
OMIM:249270	SLC19A2	10560	HP:0000572	Visual loss
OMIM:249270	SLC19A2	10560	HP:0003355	Aminoaciduria
OMIM:249270	SLC19A2	10560	HP:0001263	Global developmental delay
OMIM:249270	SLC19A2	10560	HP:0001250	Seizures
OMIM:249270	SLC19A2	10560	HP:0002637	Cerebral ischemia
OMIM:249270	SLC19A2	10560	HP:0000028	Cryptorchidism
OMIM:249270	SLC19A2	10560	HP:0000548	Cone/cone-rod dystrophy
OMIM:249270	SLC19A2	10560	HP:0000007	Autosomal recessive inheritance
OMIM:249270	SLC19A2	10560	HP:0001609	Hoarse voice
OMIM:249270	SLC19A2	10560	HP:0000639	Nystagmus
OMIM:613769	RLBP1	6017	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	RLBP1	6017	HP:0000505	Visual impairment
OMIM:613769	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:613769	RLBP1	6017	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613769	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:613769	SPATA7	55812	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613769	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:613769	SPATA7	55812	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613769	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:613769	ARL6	84100	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	ARL6	84100	HP:0000505	Visual impairment
OMIM:613769	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:613769	ARL6	84100	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613769	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:613769	CERKL	375298	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	CERKL	375298	HP:0000505	Visual impairment
OMIM:613769	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:613769	CERKL	375298	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613769	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:613769	PRPF31	26121	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	PRPF31	26121	HP:0000505	Visual impairment
OMIM:613769	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:613769	PRPF31	26121	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613769	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:613769	TTC8	123016	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	TTC8	123016	HP:0000505	Visual impairment
OMIM:613769	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:613769	TTC8	123016	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613769	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:613769	PROM1	8842	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	PROM1	8842	HP:0000505	Visual impairment
OMIM:613769	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:613769	PROM1	8842	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613769	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:613769	LRAT	9227	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	LRAT	9227	HP:0000505	Visual impairment
OMIM:613769	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:613769	LRAT	9227	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613769	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:613769	IFT140	9742	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	IFT140	9742	HP:0000505	Visual impairment
OMIM:613769	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:613769	IFT140	9742	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613769	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:613769	BEST1	7439	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	BEST1	7439	HP:0000505	Visual impairment
OMIM:613769	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:613769	BEST1	7439	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613769	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:613769	NEK2	4751	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	NEK2	4751	HP:0000505	Visual impairment
OMIM:613769	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:613769	NEK2	4751	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613769	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:613769	ARL2BP	23568	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:613769	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:613769	ARL2BP	23568	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613769	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:613769	NR2E3	10002	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	NR2E3	10002	HP:0000505	Visual impairment
OMIM:613769	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:613769	NR2E3	10002	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613769	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:613769	EYS	346007	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	EYS	346007	HP:0000505	Visual impairment
OMIM:613769	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:613769	EYS	346007	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613769	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:613769	MAK	4117	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	MAK	4117	HP:0000505	Visual impairment
OMIM:613769	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:613769	MAK	4117	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613769	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:613769	SAG	6295	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	SAG	6295	HP:0000505	Visual impairment
OMIM:613769	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:613769	SAG	6295	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613769	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:613769	ABCA4	24	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	ABCA4	24	HP:0000505	Visual impairment
OMIM:613769	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:613769	ABCA4	24	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613769	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:613769	PDE6A	5145	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613769	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:613769	PDE6A	5145	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613769	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:613769	PDE6G	5148	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	PDE6G	5148	HP:0000505	Visual impairment
OMIM:613769	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:613769	PDE6G	5148	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613769	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:613769	IMPDH1	3614	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613769	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:613769	IMPDH1	3614	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613769	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:613769	OFD1	8481	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	OFD1	8481	HP:0000505	Visual impairment
OMIM:613769	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:613769	OFD1	8481	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613769	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:613769	GUCA1B	2979	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613769	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:613769	GUCA1B	2979	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613769	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:613769	NRL	4901	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	NRL	4901	HP:0000505	Visual impairment
OMIM:613769	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:613769	NRL	4901	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613769	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:613769	PDE6B	5158	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	PDE6B	5158	HP:0000505	Visual impairment
OMIM:613769	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:613769	PDE6B	5158	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613769	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:613769	KLHL7	55975	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	KLHL7	55975	HP:0000505	Visual impairment
OMIM:613769	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:613769	KLHL7	55975	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613769	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:613769	PRPF4	9128	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	PRPF4	9128	HP:0000505	Visual impairment
OMIM:613769	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:613769	PRPF4	9128	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613769	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:613769	PRPF3	9129	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	PRPF3	9129	HP:0000505	Visual impairment
OMIM:613769	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:613769	PRPF3	9129	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613769	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:613769	FAM161A	84140	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	FAM161A	84140	HP:0000505	Visual impairment
OMIM:613769	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:613769	FAM161A	84140	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613769	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:613769	IFT172	26160	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	IFT172	26160	HP:0000505	Visual impairment
OMIM:613769	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:613769	IFT172	26160	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613769	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:613769	KIZ	55857	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	KIZ	55857	HP:0000505	Visual impairment
OMIM:613769	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:613769	KIZ	55857	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613769	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:613769	CDHR1	92211	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	CDHR1	92211	HP:0000505	Visual impairment
OMIM:613769	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:613769	CDHR1	92211	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613769	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:613769	ZNF408	79797	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613769	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:613769	ZNF408	79797	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613769	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:613769	RBP3	5949	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	RBP3	5949	HP:0000505	Visual impairment
OMIM:613769	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:613769	RBP3	5949	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613769	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:613769	HGSNAT	138050	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:613769	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:613769	HGSNAT	138050	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613769	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:613769	FSCN2	25794	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	FSCN2	25794	HP:0000505	Visual impairment
OMIM:613769	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:613769	FSCN2	25794	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613769	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:613769	PRCD	768206	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	PRCD	768206	HP:0000505	Visual impairment
OMIM:613769	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:613769	PRCD	768206	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613769	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:613769	BBS2	583	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	BBS2	583	HP:0000505	Visual impairment
OMIM:613769	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:613769	BBS2	583	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613769	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:613769	RDH12	145226	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	RDH12	145226	HP:0000505	Visual impairment
OMIM:613769	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:613769	RDH12	145226	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613769	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:613769	PRPH2	5961	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	PRPH2	5961	HP:0000505	Visual impairment
OMIM:613769	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:613769	PRPH2	5961	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613769	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:613769	DHDDS	79947	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	DHDDS	79947	HP:0000505	Visual impairment
OMIM:613769	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:613769	DHDDS	79947	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613769	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:613769	ROM1	6094	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	ROM1	6094	HP:0000505	Visual impairment
OMIM:613769	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:613769	ROM1	6094	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613769	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:613769	C2ORF71	388939	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613769	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:613769	C2ORF71	388939	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613769	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:613769	RP9	6100	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	RP9	6100	HP:0000505	Visual impairment
OMIM:613769	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:613769	RP9	6100	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613769	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:613769	PRPF6	24148	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613769	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:613769	PRPF6	24148	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613769	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:613769	RP1	6101	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	RP1	6101	HP:0000505	Visual impairment
OMIM:613769	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:613769	RP1	6101	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613769	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:613769	RP2	6102	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	RP2	6102	HP:0000505	Visual impairment
OMIM:613769	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:613769	RP2	6102	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613769	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:613769	RPGR	6103	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	RPGR	6103	HP:0000505	Visual impairment
OMIM:613769	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:613769	RPGR	6103	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613769	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:613769	SEMA4A	64218	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:613769	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:613769	SEMA4A	64218	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613769	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:613769	C8ORF37	157657	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:613769	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:613769	C8ORF37	157657	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613769	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:613769	IDH3B	3420	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	IDH3B	3420	HP:0000505	Visual impairment
OMIM:613769	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:613769	IDH3B	3420	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613769	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:613769	MERTK	10461	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	MERTK	10461	HP:0000505	Visual impairment
OMIM:613769	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:613769	MERTK	10461	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613769	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:613769	PRPF8	10594	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	PRPF8	10594	HP:0000505	Visual impairment
OMIM:613769	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:613769	PRPF8	10594	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613769	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:613769	TOPORS	10210	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	TOPORS	10210	HP:0000505	Visual impairment
OMIM:613769	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:613769	TOPORS	10210	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613769	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:613769	USH2A	7399	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	USH2A	7399	HP:0000505	Visual impairment
OMIM:613769	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:613769	USH2A	7399	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613769	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:613769	RPE65	6121	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	RPE65	6121	HP:0000505	Visual impairment
OMIM:613769	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:613769	RPE65	6121	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613769	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:613769	CLRN1	7401	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	CLRN1	7401	HP:0000505	Visual impairment
OMIM:613769	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:613769	CLRN1	7401	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613769	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:613769	CNGB1	1258	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	CNGB1	1258	HP:0000505	Visual impairment
OMIM:613769	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:613769	CNGB1	1258	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613769	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:613769	RGR	5995	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	RGR	5995	HP:0000505	Visual impairment
OMIM:613769	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:613769	RGR	5995	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613769	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:613769	CNGA1	1259	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	CNGA1	1259	HP:0000505	Visual impairment
OMIM:613769	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:613769	CNGA1	1259	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613769	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:613769	TUB	7275	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	TUB	7275	HP:0000505	Visual impairment
OMIM:613769	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:613769	TUB	7275	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613769	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:613769	SNRNP200	23020	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:613769	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:613769	SNRNP200	23020	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613769	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:613769	SLC7A14	57709	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:613769	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:613769	SLC7A14	57709	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613769	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:613769	TULP1	7287	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	TULP1	7287	HP:0000505	Visual impairment
OMIM:613769	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:613769	TULP1	7287	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613769	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:613769	RHO	6010	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	RHO	6010	HP:0000505	Visual impairment
OMIM:613769	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:613769	RHO	6010	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613769	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:613769	CA4	762	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	CA4	762	HP:0000505	Visual impairment
OMIM:613769	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:613769	CA4	762	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613769	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:613769	CRB1	23418	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	CRB1	23418	HP:0000505	Visual impairment
OMIM:613769	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:613769	CRB1	23418	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613769	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:613769	IMPG2	50939	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613769	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:613769	IMPG2	50939	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613769	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:613769	ZNF513	130557	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	ZNF513	130557	HP:0000505	Visual impairment
OMIM:613769	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:613769	ZNF513	130557	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613769	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:613769	CRX	1406	HP:0007722	Retinal pigment epithelial atrophy
OMIM:613769	CRX	1406	HP:0000505	Visual impairment
OMIM:613769	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:613769	CRX	1406	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613769	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613769	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:613769	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:615468	MALT1	10892	HP:0002750	Delayed skeletal maturation
OMIM:615468	MALT1	10892	HP:0002718	Recurrent bacterial infections
OMIM:615468	MALT1	10892	HP:0000007	Autosomal recessive inheritance
OMIM:615468	MALT1	10892	HP:0001510	Growth delay
OMIM:615468	MALT1	10892	HP:0002721	Immunodeficiency
OMIM:615468	MALT1	10892	HP:0000939	Osteoporosis
OMIM:615468	MALT1	10892	HP:0004429	Recurrent viral infections
OMIM:250940	MTR	4548	HP:0000639	Nystagmus
OMIM:250940	MTR	4548	HP:0001263	Global developmental delay
OMIM:250940	MTR	4548	HP:0001288	Gait disturbance
OMIM:250940	MTR	4548	HP:0000618	Blindness
OMIM:250940	MTR	4548	HP:0002059	Cerebral atrophy
OMIM:250940	MTR	4548	HP:0003593	Infantile onset
OMIM:250940	MTR	4548	HP:0000007	Autosomal recessive inheritance
OMIM:250940	MTR	4548	HP:0002370	Poor coordination
OMIM:250940	MTR	4548	HP:0001508	Failure to thrive
OMIM:250940	MTR	4548	HP:0001249	Intellectual disability
OMIM:250940	MTR	4548	HP:0008872	Feeding difficulties in infancy
OMIM:250940	MTR	4548	HP:0001889	Megaloblastic anemia
OMIM:250940	MTR	4548	HP:0001250	Seizures
OMIM:250940	MTR	4548	HP:0001252	Muscular hypotonia
OMIM:614251	GBA	2629	HP:0001300	Parkinsonism
OMIM:614251	GBA	2629	HP:0002063	Rigidity
OMIM:614251	GBA	2629	HP:0002067	Bradykinesia
OMIM:614251	GBA	2629	HP:0000006	Autosomal dominant inheritance
OMIM:614251	DNAJC13	23317	HP:0001300	Parkinsonism
OMIM:614251	DNAJC13	23317	HP:0002063	Rigidity
OMIM:614251	DNAJC13	23317	HP:0002067	Bradykinesia
OMIM:614251	DNAJC13	23317	HP:0000006	Autosomal dominant inheritance
OMIM:614251	VPS35	55737	HP:0001300	Parkinsonism
OMIM:614251	VPS35	55737	HP:0002063	Rigidity
OMIM:614251	VPS35	55737	HP:0002067	Bradykinesia
OMIM:614251	VPS35	55737	HP:0000006	Autosomal dominant inheritance
OMIM:614251	GIGYF2	26058	HP:0001300	Parkinsonism
OMIM:614251	GIGYF2	26058	HP:0002063	Rigidity
OMIM:614251	GIGYF2	26058	HP:0002067	Bradykinesia
OMIM:614251	GIGYF2	26058	HP:0000006	Autosomal dominant inheritance
OMIM:614251	LRRK2	120892	HP:0001300	Parkinsonism
OMIM:614251	LRRK2	120892	HP:0002063	Rigidity
OMIM:614251	LRRK2	120892	HP:0002067	Bradykinesia
OMIM:614251	LRRK2	120892	HP:0000006	Autosomal dominant inheritance
OMIM:614251	EIF4G1	1981	HP:0001300	Parkinsonism
OMIM:614251	EIF4G1	1981	HP:0002063	Rigidity
OMIM:614251	EIF4G1	1981	HP:0002067	Bradykinesia
OMIM:614251	EIF4G1	1981	HP:0000006	Autosomal dominant inheritance
OMIM:614251	SNCA	6622	HP:0001300	Parkinsonism
OMIM:614251	SNCA	6622	HP:0002063	Rigidity
OMIM:614251	SNCA	6622	HP:0002067	Bradykinesia
OMIM:614251	SNCA	6622	HP:0000006	Autosomal dominant inheritance
OMIM:116800	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:116800	CRYAB	1410	HP:0010920	Zonular cataract
OMIM:116800	CRYAB	1410	HP:0010693	Pulverulent Cataract
OMIM:116800	CRYAB	1410	HP:0100018	Nuclear cataract
OMIM:116800	CRYAB	1410	HP:0001167	Abnormality of finger
OMIM:116800	HSF4	3299	HP:0000006	Autosomal dominant inheritance
OMIM:116800	HSF4	3299	HP:0010920	Zonular cataract
OMIM:116800	HSF4	3299	HP:0010693	Pulverulent Cataract
OMIM:116800	HSF4	3299	HP:0100018	Nuclear cataract
OMIM:116800	HSF4	3299	HP:0001167	Abnormality of finger
OMIM:116800	CRYBA1	1411	HP:0000006	Autosomal dominant inheritance
OMIM:116800	CRYBA1	1411	HP:0010920	Zonular cataract
OMIM:116800	CRYBA1	1411	HP:0010693	Pulverulent Cataract
OMIM:116800	CRYBA1	1411	HP:0100018	Nuclear cataract
OMIM:116800	CRYBA1	1411	HP:0001167	Abnormality of finger
OMIM:116800	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:116800	CRYBA2	1412	HP:0010920	Zonular cataract
OMIM:116800	CRYBA2	1412	HP:0010693	Pulverulent Cataract
OMIM:116800	CRYBA2	1412	HP:0100018	Nuclear cataract
OMIM:116800	CRYBA2	1412	HP:0001167	Abnormality of finger
OMIM:116800	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:116800	CRYBA4	1413	HP:0010920	Zonular cataract
OMIM:116800	CRYBA4	1413	HP:0010693	Pulverulent Cataract
OMIM:116800	CRYBA4	1413	HP:0100018	Nuclear cataract
OMIM:116800	CRYBA4	1413	HP:0001167	Abnormality of finger
OMIM:116800	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:116800	AGK	55750	HP:0010920	Zonular cataract
OMIM:116800	AGK	55750	HP:0010693	Pulverulent Cataract
OMIM:116800	AGK	55750	HP:0100018	Nuclear cataract
OMIM:116800	AGK	55750	HP:0001167	Abnormality of finger
OMIM:116800	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:116800	CRYGB	1419	HP:0010920	Zonular cataract
OMIM:116800	CRYGB	1419	HP:0010693	Pulverulent Cataract
OMIM:116800	CRYGB	1419	HP:0100018	Nuclear cataract
OMIM:116800	CRYGB	1419	HP:0001167	Abnormality of finger
OMIM:116800	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:116800	GCNT2	2651	HP:0010920	Zonular cataract
OMIM:116800	GCNT2	2651	HP:0010693	Pulverulent Cataract
OMIM:116800	GCNT2	2651	HP:0100018	Nuclear cataract
OMIM:116800	GCNT2	2651	HP:0001167	Abnormality of finger
OMIM:116800	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:116800	CRYGC	1420	HP:0010920	Zonular cataract
OMIM:116800	CRYGC	1420	HP:0010693	Pulverulent Cataract
OMIM:116800	CRYGC	1420	HP:0100018	Nuclear cataract
OMIM:116800	CRYGC	1420	HP:0001167	Abnormality of finger
OMIM:243320	GIF	2694	HP:0001510	Growth delay
OMIM:243320	GIF	2694	HP:0001889	Megaloblastic anemia
OMIM:243320	GIF	2694	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:243320	GIF	2694	HP:0000007	Autosomal recessive inheritance
OMIM:243320	GIF	2694	HP:0000707	Abnormality of the nervous system
OMIM:609597	ALX4	60529	HP:0000006	Autosomal dominant inheritance
OMIM:609597	ALX4	60529	HP:0005280	Depressed nasal bridge
OMIM:609597	ALX4	60529	HP:0000316	Hypertelorism
OMIM:609597	ALX4	60529	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:609597	ALX4	60529	HP:0007385	Aplasia cutis congenita of scalp
OMIM:609597	ALX4	60529	HP:0012811	Wide nasal ridge
OMIM:609597	ALX4	60529	HP:0002084	Encephalocele
OMIM:609597	ALX4	60529	HP:0002697	Parietal foramina
OMIM:609597	MSX2	4488	HP:0000006	Autosomal dominant inheritance
OMIM:609597	MSX2	4488	HP:0005280	Depressed nasal bridge
OMIM:609597	MSX2	4488	HP:0000316	Hypertelorism
OMIM:609597	MSX2	4488	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:609597	MSX2	4488	HP:0007385	Aplasia cutis congenita of scalp
OMIM:609597	MSX2	4488	HP:0012811	Wide nasal ridge
OMIM:609597	MSX2	4488	HP:0002084	Encephalocele
OMIM:609597	MSX2	4488	HP:0002697	Parietal foramina
OMIM:188025	FLI1	2313	HP:0002021	Pyloric stenosis
OMIM:188025	FLI1	2313	HP:0000508	Ptosis
OMIM:188025	FLI1	2313	HP:0003010	Prolonged bleeding time
OMIM:188025	FLI1	2313	HP:0000347	Micrognathia
OMIM:188025	FLI1	2313	HP:0001249	Intellectual disability
OMIM:188025	FLI1	2313	HP:0100543	Cognitive impairment
OMIM:188025	FLI1	2313	HP:0001626	Abnormality of the cardiovascular system
OMIM:188025	FLI1	2313	HP:0003745	Sporadic
OMIM:188025	FLI1	2313	HP:0009466	Radial deviation of finger
OMIM:188025	FLI1	2313	HP:0001873	Thrombocytopenia
OMIM:188025	FLI1	2313	HP:0001892	Abnormal bleeding
OMIM:188025	FLI1	2313	HP:0030084	Clinodactyly
OMIM:188025	FLI1	2313	HP:0000243	Trigonocephaly
OMIM:612702	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:612702	PROK2	60675	HP:0000458	Anosmia
OMIM:612702	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:612702	PROKR2	128674	HP:0000458	Anosmia
OMIM:612702	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	SEMA3A	10371	HP:0000006	Autosomal dominant inheritance
OMIM:612702	SEMA3A	10371	HP:0000458	Anosmia
OMIM:612702	SEMA3A	10371	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	IL17RD	54756	HP:0000006	Autosomal dominant inheritance
OMIM:612702	IL17RD	54756	HP:0000458	Anosmia
OMIM:612702	IL17RD	54756	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:612702	WDR11	55717	HP:0000458	Anosmia
OMIM:612702	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	KISS1	3814	HP:0000006	Autosomal dominant inheritance
OMIM:612702	KISS1	3814	HP:0000458	Anosmia
OMIM:612702	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:612702	SOX10	6663	HP:0000458	Anosmia
OMIM:612702	SOX10	6663	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	FEZF1	389549	HP:0000006	Autosomal dominant inheritance
OMIM:612702	FEZF1	389549	HP:0000458	Anosmia
OMIM:612702	FEZF1	389549	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	GNRH1	2796	HP:0000006	Autosomal dominant inheritance
OMIM:612702	GNRH1	2796	HP:0000458	Anosmia
OMIM:612702	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:612702	FGF8	2253	HP:0000458	Anosmia
OMIM:612702	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	GNRHR	2798	HP:0000006	Autosomal dominant inheritance
OMIM:612702	GNRHR	2798	HP:0000458	Anosmia
OMIM:612702	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	ANOS1	3730	HP:0000006	Autosomal dominant inheritance
OMIM:612702	ANOS1	3730	HP:0000458	Anosmia
OMIM:612702	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	TAC3	6866	HP:0000006	Autosomal dominant inheritance
OMIM:612702	TAC3	6866	HP:0000458	Anosmia
OMIM:612702	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	HS6ST1	9394	HP:0000006	Autosomal dominant inheritance
OMIM:612702	HS6ST1	9394	HP:0000458	Anosmia
OMIM:612702	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:612702	CHD7	55636	HP:0000458	Anosmia
OMIM:612702	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:612702	FGFR1	2260	HP:0000458	Anosmia
OMIM:612702	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:612702	HESX1	8820	HP:0000458	Anosmia
OMIM:612702	HESX1	8820	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	TACR3	6870	HP:0000006	Autosomal dominant inheritance
OMIM:612702	TACR3	6870	HP:0000458	Anosmia
OMIM:612702	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:612702	FGF17	8822	HP:0000458	Anosmia
OMIM:612702	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	FLRT3	23767	HP:0000006	Autosomal dominant inheritance
OMIM:612702	FLRT3	23767	HP:0000458	Anosmia
OMIM:612702	FLRT3	23767	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:612702	DUSP6	1848	HP:0000458	Anosmia
OMIM:612702	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:612702	SPRY4	81848	HP:0000458	Anosmia
OMIM:612702	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:612702	KISS1R	84634	HP:0000458	Anosmia
OMIM:612702	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:612702	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:612702	NSMF	26012	HP:0000458	Anosmia
OMIM:612702	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:608380	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:608380	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:608380	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:608380	RLBP1	6017	HP:0000505	Visual impairment
OMIM:608380	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:608380	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	RLBP1	6017	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:608380	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:608380	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:608380	SPATA7	55812	HP:0000505	Visual impairment
OMIM:608380	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:608380	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	SPATA7	55812	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:608380	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:608380	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:608380	ARL6	84100	HP:0000505	Visual impairment
OMIM:608380	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:608380	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	ARL6	84100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:608380	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:608380	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:608380	CERKL	375298	HP:0000505	Visual impairment
OMIM:608380	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:608380	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	CERKL	375298	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:608380	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:608380	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:608380	PRPF31	26121	HP:0000505	Visual impairment
OMIM:608380	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:608380	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	PRPF31	26121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:608380	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:608380	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:608380	TTC8	123016	HP:0000505	Visual impairment
OMIM:608380	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:608380	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	TTC8	123016	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:608380	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:608380	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:608380	PROM1	8842	HP:0000505	Visual impairment
OMIM:608380	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:608380	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	PROM1	8842	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:608380	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:608380	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:608380	LRAT	9227	HP:0000505	Visual impairment
OMIM:608380	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:608380	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	LRAT	9227	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:608380	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:608380	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:608380	IFT140	9742	HP:0000505	Visual impairment
OMIM:608380	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:608380	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	IFT140	9742	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:608380	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:608380	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:608380	BEST1	7439	HP:0000505	Visual impairment
OMIM:608380	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:608380	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	BEST1	7439	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:608380	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:608380	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:608380	NEK2	4751	HP:0000505	Visual impairment
OMIM:608380	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:608380	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	NEK2	4751	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:608380	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:608380	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:608380	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:608380	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:608380	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	ARL2BP	23568	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:608380	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:608380	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:608380	NR2E3	10002	HP:0000505	Visual impairment
OMIM:608380	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:608380	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	NR2E3	10002	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	EYS	346007	HP:0000543	Optic disc pallor
OMIM:608380	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:608380	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:608380	EYS	346007	HP:0000505	Visual impairment
OMIM:608380	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:608380	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	EYS	346007	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	MAK	4117	HP:0000543	Optic disc pallor
OMIM:608380	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:608380	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:608380	MAK	4117	HP:0000505	Visual impairment
OMIM:608380	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:608380	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	MAK	4117	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	SAG	6295	HP:0000543	Optic disc pallor
OMIM:608380	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:608380	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:608380	SAG	6295	HP:0000505	Visual impairment
OMIM:608380	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:608380	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	SAG	6295	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:608380	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:608380	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:608380	ABCA4	24	HP:0000505	Visual impairment
OMIM:608380	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:608380	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	ABCA4	24	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:608380	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:608380	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:608380	PDE6A	5145	HP:0000505	Visual impairment
OMIM:608380	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:608380	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	PDE6A	5145	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:608380	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:608380	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:608380	PDE6G	5148	HP:0000505	Visual impairment
OMIM:608380	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:608380	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	PDE6G	5148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:608380	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:608380	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:608380	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:608380	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:608380	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	IMPDH1	3614	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:608380	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:608380	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:608380	OFD1	8481	HP:0000505	Visual impairment
OMIM:608380	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:608380	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	OFD1	8481	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:608380	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:608380	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:608380	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:608380	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:608380	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	GUCA1B	2979	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	NRL	4901	HP:0000543	Optic disc pallor
OMIM:608380	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:608380	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:608380	NRL	4901	HP:0000505	Visual impairment
OMIM:608380	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:608380	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	NRL	4901	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:608380	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:608380	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:608380	PDE6B	5158	HP:0000505	Visual impairment
OMIM:608380	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:608380	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	PDE6B	5158	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:608380	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:608380	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:608380	KLHL7	55975	HP:0000505	Visual impairment
OMIM:608380	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:608380	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	KLHL7	55975	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:608380	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:608380	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:608380	PRPF4	9128	HP:0000505	Visual impairment
OMIM:608380	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:608380	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	PRPF4	9128	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:608380	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:608380	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:608380	PRPF3	9129	HP:0000505	Visual impairment
OMIM:608380	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:608380	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	PRPF3	9129	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:608380	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:608380	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:608380	FAM161A	84140	HP:0000505	Visual impairment
OMIM:608380	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:608380	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	FAM161A	84140	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:608380	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:608380	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:608380	IFT172	26160	HP:0000505	Visual impairment
OMIM:608380	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:608380	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	IFT172	26160	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:608380	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:608380	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:608380	KIZ	55857	HP:0000505	Visual impairment
OMIM:608380	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:608380	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	KIZ	55857	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:608380	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:608380	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:608380	CDHR1	92211	HP:0000505	Visual impairment
OMIM:608380	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:608380	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	CDHR1	92211	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:608380	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:608380	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:608380	ZNF408	79797	HP:0000505	Visual impairment
OMIM:608380	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:608380	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	ZNF408	79797	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:608380	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:608380	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:608380	RBP3	5949	HP:0000505	Visual impairment
OMIM:608380	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:608380	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	RBP3	5949	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:608380	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:608380	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:608380	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:608380	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:608380	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	HGSNAT	138050	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:608380	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:608380	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:608380	FSCN2	25794	HP:0000505	Visual impairment
OMIM:608380	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:608380	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	FSCN2	25794	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:608380	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:608380	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:608380	PRCD	768206	HP:0000505	Visual impairment
OMIM:608380	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:608380	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	PRCD	768206	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	BBS2	583	HP:0000543	Optic disc pallor
OMIM:608380	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:608380	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:608380	BBS2	583	HP:0000505	Visual impairment
OMIM:608380	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:608380	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	BBS2	583	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:608380	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:608380	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:608380	RDH12	145226	HP:0000505	Visual impairment
OMIM:608380	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:608380	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	RDH12	145226	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:608380	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:608380	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:608380	PRPH2	5961	HP:0000505	Visual impairment
OMIM:608380	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:608380	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	PRPH2	5961	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:608380	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:608380	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:608380	DHDDS	79947	HP:0000505	Visual impairment
OMIM:608380	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:608380	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	DHDDS	79947	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:608380	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:608380	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:608380	ROM1	6094	HP:0000505	Visual impairment
OMIM:608380	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:608380	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	ROM1	6094	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:608380	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:608380	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:608380	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:608380	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:608380	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	C2ORF71	388939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	RP9	6100	HP:0000543	Optic disc pallor
OMIM:608380	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:608380	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:608380	RP9	6100	HP:0000505	Visual impairment
OMIM:608380	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:608380	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	RP9	6100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:608380	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:608380	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:608380	PRPF6	24148	HP:0000505	Visual impairment
OMIM:608380	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:608380	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	PRPF6	24148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	RP1	6101	HP:0000543	Optic disc pallor
OMIM:608380	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:608380	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:608380	RP1	6101	HP:0000505	Visual impairment
OMIM:608380	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:608380	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	RP1	6101	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	RP2	6102	HP:0000543	Optic disc pallor
OMIM:608380	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:608380	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:608380	RP2	6102	HP:0000505	Visual impairment
OMIM:608380	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:608380	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	RP2	6102	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:608380	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:608380	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:608380	RPGR	6103	HP:0000505	Visual impairment
OMIM:608380	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:608380	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	RPGR	6103	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:608380	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:608380	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:608380	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:608380	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:608380	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	SEMA4A	64218	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:608380	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:608380	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:608380	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:608380	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:608380	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	C8ORF37	157657	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:608380	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:608380	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:608380	IDH3B	3420	HP:0000505	Visual impairment
OMIM:608380	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:608380	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	IDH3B	3420	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:608380	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:608380	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:608380	MERTK	10461	HP:0000505	Visual impairment
OMIM:608380	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:608380	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	MERTK	10461	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:608380	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:608380	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:608380	PRPF8	10594	HP:0000505	Visual impairment
OMIM:608380	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:608380	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	PRPF8	10594	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:608380	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:608380	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:608380	TOPORS	10210	HP:0000505	Visual impairment
OMIM:608380	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:608380	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	TOPORS	10210	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:608380	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:608380	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:608380	USH2A	7399	HP:0000505	Visual impairment
OMIM:608380	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:608380	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	USH2A	7399	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:608380	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:608380	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:608380	RPE65	6121	HP:0000505	Visual impairment
OMIM:608380	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:608380	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	RPE65	6121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:608380	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:608380	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:608380	CLRN1	7401	HP:0000505	Visual impairment
OMIM:608380	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:608380	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	CLRN1	7401	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:608380	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:608380	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:608380	CNGB1	1258	HP:0000505	Visual impairment
OMIM:608380	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:608380	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	CNGB1	1258	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	RGR	5995	HP:0000543	Optic disc pallor
OMIM:608380	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:608380	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:608380	RGR	5995	HP:0000505	Visual impairment
OMIM:608380	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:608380	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	RGR	5995	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:608380	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:608380	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:608380	CNGA1	1259	HP:0000505	Visual impairment
OMIM:608380	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:608380	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	CNGA1	1259	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	TUB	7275	HP:0000543	Optic disc pallor
OMIM:608380	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:608380	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:608380	TUB	7275	HP:0000505	Visual impairment
OMIM:608380	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:608380	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	TUB	7275	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:608380	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:608380	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:608380	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:608380	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:608380	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	SNRNP200	23020	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:608380	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:608380	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:608380	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:608380	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:608380	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	SLC7A14	57709	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:608380	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:608380	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:608380	TULP1	7287	HP:0000505	Visual impairment
OMIM:608380	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:608380	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	TULP1	7287	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	RHO	6010	HP:0000543	Optic disc pallor
OMIM:608380	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:608380	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:608380	RHO	6010	HP:0000505	Visual impairment
OMIM:608380	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:608380	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	RHO	6010	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	CA4	762	HP:0000543	Optic disc pallor
OMIM:608380	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:608380	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:608380	CA4	762	HP:0000505	Visual impairment
OMIM:608380	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:608380	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	CA4	762	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:608380	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:608380	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:608380	CRB1	23418	HP:0000505	Visual impairment
OMIM:608380	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:608380	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	CRB1	23418	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:608380	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:608380	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:608380	IMPG2	50939	HP:0000505	Visual impairment
OMIM:608380	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:608380	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	IMPG2	50939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:608380	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:608380	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:608380	ZNF513	130557	HP:0000505	Visual impairment
OMIM:608380	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:608380	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	ZNF513	130557	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:608380	CRX	1406	HP:0000543	Optic disc pallor
OMIM:608380	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:608380	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:608380	CRX	1406	HP:0000505	Visual impairment
OMIM:608380	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:608380	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:608380	CRX	1406	HP:0007688	Undetectable light- and dark-adapted electroretinogram
ORPHANET:220497	NPHP1	4867	HP:0002650	Scoliosis
ORPHANET:220497	NPHP1	4867	HP:0000426	Prominent nasal bridge
ORPHANET:220497	NPHP1	4867	HP:0000486	Strabismus
ORPHANET:220497	NPHP1	4867	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:220497	NPHP1	4867	HP:0001337	Tremor
ORPHANET:220497	NPHP1	4867	HP:0002104	Apnea
ORPHANET:220497	NPHP1	4867	HP:0000083	Renal insufficiency
ORPHANET:220497	NPHP1	4867	HP:0000238	Hydrocephalus
ORPHANET:220497	NPHP1	4867	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:220497	NPHP1	4867	HP:0000112	Nephropathy
ORPHANET:220497	NPHP1	4867	HP:0001288	Gait disturbance
ORPHANET:220497	NPHP1	4867	HP:0001250	Seizures
ORPHANET:220497	NPHP1	4867	HP:0001252	Muscular hypotonia
ORPHANET:220497	NPHP1	4867	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:220497	NPHP1	4867	HP:0002251	Aganglionic megacolon
ORPHANET:220497	NPHP1	4867	HP:0100543	Cognitive impairment
ORPHANET:220497	NPHP1	4867	HP:0000612	Iris coloboma
ORPHANET:220497	NPHP1	4867	HP:0000657	Oculomotor apraxia
ORPHANET:220497	NPHP1	4867	HP:0002553	Highly arched eyebrow
ORPHANET:220497	NPHP1	4867	HP:0002084	Encephalocele
ORPHANET:220497	NPHP1	4867	HP:0000639	Nystagmus
ORPHANET:220497	NPHP1	4867	HP:0000202	Oral cleft
ORPHANET:220497	NPHP1	4867	HP:0000508	Ptosis
ORPHANET:220497	NPHP1	4867	HP:0000276	Long face
ORPHANET:220497	NPHP1	4867	HP:0002269	Abnormality of neuronal migration
ORPHANET:220497	NPHP1	4867	HP:0000463	Anteverted nares
ORPHANET:220497	NPHP1	4867	HP:0002311	Incoordination
ORPHANET:220497	NPHP1	4867	HP:0000341	Narrow forehead
ORPHANET:220497	NPHP1	4867	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:220497	NPHP1	4867	HP:0001161	Hand polydactyly
ORPHANET:220497	TMEM237	65062	HP:0002650	Scoliosis
ORPHANET:220497	TMEM237	65062	HP:0000426	Prominent nasal bridge
ORPHANET:220497	TMEM237	65062	HP:0000486	Strabismus
ORPHANET:220497	TMEM237	65062	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:220497	TMEM237	65062	HP:0001337	Tremor
ORPHANET:220497	TMEM237	65062	HP:0002104	Apnea
ORPHANET:220497	TMEM237	65062	HP:0000083	Renal insufficiency
ORPHANET:220497	TMEM237	65062	HP:0000238	Hydrocephalus
ORPHANET:220497	TMEM237	65062	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:220497	TMEM237	65062	HP:0000112	Nephropathy
ORPHANET:220497	TMEM237	65062	HP:0001288	Gait disturbance
ORPHANET:220497	TMEM237	65062	HP:0001250	Seizures
ORPHANET:220497	TMEM237	65062	HP:0001252	Muscular hypotonia
ORPHANET:220497	TMEM237	65062	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:220497	TMEM237	65062	HP:0002251	Aganglionic megacolon
ORPHANET:220497	TMEM237	65062	HP:0100543	Cognitive impairment
ORPHANET:220497	TMEM237	65062	HP:0000612	Iris coloboma
ORPHANET:220497	TMEM237	65062	HP:0000657	Oculomotor apraxia
ORPHANET:220497	TMEM237	65062	HP:0002553	Highly arched eyebrow
ORPHANET:220497	TMEM237	65062	HP:0002084	Encephalocele
ORPHANET:220497	TMEM237	65062	HP:0000639	Nystagmus
ORPHANET:220497	TMEM237	65062	HP:0000202	Oral cleft
ORPHANET:220497	TMEM237	65062	HP:0000508	Ptosis
ORPHANET:220497	TMEM237	65062	HP:0000276	Long face
ORPHANET:220497	TMEM237	65062	HP:0002269	Abnormality of neuronal migration
ORPHANET:220497	TMEM237	65062	HP:0000463	Anteverted nares
ORPHANET:220497	TMEM237	65062	HP:0002311	Incoordination
ORPHANET:220497	TMEM237	65062	HP:0000341	Narrow forehead
ORPHANET:220497	TMEM237	65062	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:220497	TMEM237	65062	HP:0001161	Hand polydactyly
ORPHANET:220497	RPGRIP1L	23322	HP:0002650	Scoliosis
ORPHANET:220497	RPGRIP1L	23322	HP:0000426	Prominent nasal bridge
ORPHANET:220497	RPGRIP1L	23322	HP:0000486	Strabismus
ORPHANET:220497	RPGRIP1L	23322	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:220497	RPGRIP1L	23322	HP:0001337	Tremor
ORPHANET:220497	RPGRIP1L	23322	HP:0002104	Apnea
ORPHANET:220497	RPGRIP1L	23322	HP:0000083	Renal insufficiency
ORPHANET:220497	RPGRIP1L	23322	HP:0000238	Hydrocephalus
ORPHANET:220497	RPGRIP1L	23322	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:220497	RPGRIP1L	23322	HP:0000112	Nephropathy
ORPHANET:220497	RPGRIP1L	23322	HP:0001288	Gait disturbance
ORPHANET:220497	RPGRIP1L	23322	HP:0001250	Seizures
ORPHANET:220497	RPGRIP1L	23322	HP:0001252	Muscular hypotonia
ORPHANET:220497	RPGRIP1L	23322	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:220497	RPGRIP1L	23322	HP:0002251	Aganglionic megacolon
ORPHANET:220497	RPGRIP1L	23322	HP:0100543	Cognitive impairment
ORPHANET:220497	RPGRIP1L	23322	HP:0000612	Iris coloboma
ORPHANET:220497	RPGRIP1L	23322	HP:0000657	Oculomotor apraxia
ORPHANET:220497	RPGRIP1L	23322	HP:0002553	Highly arched eyebrow
ORPHANET:220497	RPGRIP1L	23322	HP:0002084	Encephalocele
ORPHANET:220497	RPGRIP1L	23322	HP:0000639	Nystagmus
ORPHANET:220497	RPGRIP1L	23322	HP:0000202	Oral cleft
ORPHANET:220497	RPGRIP1L	23322	HP:0000508	Ptosis
ORPHANET:220497	RPGRIP1L	23322	HP:0000276	Long face
ORPHANET:220497	RPGRIP1L	23322	HP:0002269	Abnormality of neuronal migration
ORPHANET:220497	RPGRIP1L	23322	HP:0000463	Anteverted nares
ORPHANET:220497	RPGRIP1L	23322	HP:0002311	Incoordination
ORPHANET:220497	RPGRIP1L	23322	HP:0000341	Narrow forehead
ORPHANET:220497	RPGRIP1L	23322	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:220497	RPGRIP1L	23322	HP:0001161	Hand polydactyly
OMIM:224050	ATP8A2	51761	HP:0002075	Dysdiadochokinesis
OMIM:224050	ATP8A2	51761	HP:0003680	Nonprogressive
OMIM:224050	ATP8A2	51761	HP:0009879	Cortical gyral simplification
OMIM:224050	ATP8A2	51761	HP:0000518	Cataract
OMIM:224050	ATP8A2	51761	HP:0001250	Seizures
OMIM:224050	ATP8A2	51761	HP:0001263	Global developmental delay
OMIM:224050	ATP8A2	51761	HP:0001249	Intellectual disability
OMIM:224050	ATP8A2	51761	HP:0002365	Hypoplasia of the brainstem
OMIM:224050	ATP8A2	51761	HP:0001763	Pes planus
OMIM:224050	ATP8A2	51761	HP:0001321	Cerebellar hypoplasia
OMIM:224050	ATP8A2	51761	HP:0000007	Autosomal recessive inheritance
OMIM:224050	ATP8A2	51761	HP:0003577	Congenital onset
OMIM:224050	ATP8A2	51761	HP:0001347	Hyperreflexia
OMIM:224050	ATP8A2	51761	HP:0002078	Truncal ataxia
OMIM:224050	ATP8A2	51761	HP:0002465	Poor speech
OMIM:224050	ATP8A2	51761	HP:0002066	Gait ataxia
OMIM:224050	ATP8A2	51761	HP:0004322	Short stature
OMIM:224050	ATP8A2	51761	HP:0001252	Muscular hypotonia
OMIM:224050	ATP8A2	51761	HP:0001260	Dysarthria
OMIM:224050	ATP8A2	51761	HP:0000486	Strabismus
OMIM:224050	ATP8A2	51761	HP:0001302	Pachygyria
OMIM:224050	ATP8A2	51761	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:224050	ATP8A2	51761	HP:0000640	Gaze-evoked nystagmus
OMIM:224050	ATP8A2	51761	HP:0000750	Delayed speech and language development
OMIM:224050	ATP8A2	51761	HP:0001272	Cerebellar atrophy
OMIM:224050	ATP8A2	51761	HP:0001310	Dysmetria
OMIM:224050	WDR81	124997	HP:0002075	Dysdiadochokinesis
OMIM:224050	WDR81	124997	HP:0003680	Nonprogressive
OMIM:224050	WDR81	124997	HP:0009879	Cortical gyral simplification
OMIM:224050	WDR81	124997	HP:0000518	Cataract
OMIM:224050	WDR81	124997	HP:0001250	Seizures
OMIM:224050	WDR81	124997	HP:0001263	Global developmental delay
OMIM:224050	WDR81	124997	HP:0001249	Intellectual disability
OMIM:224050	WDR81	124997	HP:0002365	Hypoplasia of the brainstem
OMIM:224050	WDR81	124997	HP:0001763	Pes planus
OMIM:224050	WDR81	124997	HP:0001321	Cerebellar hypoplasia
OMIM:224050	WDR81	124997	HP:0000007	Autosomal recessive inheritance
OMIM:224050	WDR81	124997	HP:0003577	Congenital onset
OMIM:224050	WDR81	124997	HP:0001347	Hyperreflexia
OMIM:224050	WDR81	124997	HP:0002078	Truncal ataxia
OMIM:224050	WDR81	124997	HP:0002465	Poor speech
OMIM:224050	WDR81	124997	HP:0002066	Gait ataxia
OMIM:224050	WDR81	124997	HP:0004322	Short stature
OMIM:224050	WDR81	124997	HP:0001252	Muscular hypotonia
OMIM:224050	WDR81	124997	HP:0001260	Dysarthria
OMIM:224050	WDR81	124997	HP:0000486	Strabismus
OMIM:224050	WDR81	124997	HP:0001302	Pachygyria
OMIM:224050	WDR81	124997	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:224050	WDR81	124997	HP:0000640	Gaze-evoked nystagmus
OMIM:224050	WDR81	124997	HP:0000750	Delayed speech and language development
OMIM:224050	WDR81	124997	HP:0001272	Cerebellar atrophy
OMIM:224050	WDR81	124997	HP:0001310	Dysmetria
OMIM:224050	VLDLR	7436	HP:0002075	Dysdiadochokinesis
OMIM:224050	VLDLR	7436	HP:0003680	Nonprogressive
OMIM:224050	VLDLR	7436	HP:0009879	Cortical gyral simplification
OMIM:224050	VLDLR	7436	HP:0000518	Cataract
OMIM:224050	VLDLR	7436	HP:0001250	Seizures
OMIM:224050	VLDLR	7436	HP:0001263	Global developmental delay
OMIM:224050	VLDLR	7436	HP:0001249	Intellectual disability
OMIM:224050	VLDLR	7436	HP:0002365	Hypoplasia of the brainstem
OMIM:224050	VLDLR	7436	HP:0001763	Pes planus
OMIM:224050	VLDLR	7436	HP:0001321	Cerebellar hypoplasia
OMIM:224050	VLDLR	7436	HP:0000007	Autosomal recessive inheritance
OMIM:224050	VLDLR	7436	HP:0003577	Congenital onset
OMIM:224050	VLDLR	7436	HP:0001347	Hyperreflexia
OMIM:224050	VLDLR	7436	HP:0002078	Truncal ataxia
OMIM:224050	VLDLR	7436	HP:0002465	Poor speech
OMIM:224050	VLDLR	7436	HP:0002066	Gait ataxia
OMIM:224050	VLDLR	7436	HP:0004322	Short stature
OMIM:224050	VLDLR	7436	HP:0001252	Muscular hypotonia
OMIM:224050	VLDLR	7436	HP:0001260	Dysarthria
OMIM:224050	VLDLR	7436	HP:0000486	Strabismus
OMIM:224050	VLDLR	7436	HP:0001302	Pachygyria
OMIM:224050	VLDLR	7436	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:224050	VLDLR	7436	HP:0000640	Gaze-evoked nystagmus
OMIM:224050	VLDLR	7436	HP:0000750	Delayed speech and language development
OMIM:224050	VLDLR	7436	HP:0001272	Cerebellar atrophy
OMIM:224050	VLDLR	7436	HP:0001310	Dysmetria
OMIM:224050	CA8	767	HP:0002075	Dysdiadochokinesis
OMIM:224050	CA8	767	HP:0003680	Nonprogressive
OMIM:224050	CA8	767	HP:0009879	Cortical gyral simplification
OMIM:224050	CA8	767	HP:0000518	Cataract
OMIM:224050	CA8	767	HP:0001250	Seizures
OMIM:224050	CA8	767	HP:0001263	Global developmental delay
OMIM:224050	CA8	767	HP:0001249	Intellectual disability
OMIM:224050	CA8	767	HP:0002365	Hypoplasia of the brainstem
OMIM:224050	CA8	767	HP:0001763	Pes planus
OMIM:224050	CA8	767	HP:0001321	Cerebellar hypoplasia
OMIM:224050	CA8	767	HP:0000007	Autosomal recessive inheritance
OMIM:224050	CA8	767	HP:0003577	Congenital onset
OMIM:224050	CA8	767	HP:0001347	Hyperreflexia
OMIM:224050	CA8	767	HP:0002078	Truncal ataxia
OMIM:224050	CA8	767	HP:0002465	Poor speech
OMIM:224050	CA8	767	HP:0002066	Gait ataxia
OMIM:224050	CA8	767	HP:0004322	Short stature
OMIM:224050	CA8	767	HP:0001252	Muscular hypotonia
OMIM:224050	CA8	767	HP:0001260	Dysarthria
OMIM:224050	CA8	767	HP:0000486	Strabismus
OMIM:224050	CA8	767	HP:0001302	Pachygyria
OMIM:224050	CA8	767	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:224050	CA8	767	HP:0000640	Gaze-evoked nystagmus
OMIM:224050	CA8	767	HP:0000750	Delayed speech and language development
OMIM:224050	CA8	767	HP:0001272	Cerebellar atrophy
OMIM:224050	CA8	767	HP:0001310	Dysmetria
OMIM:607821	MSRB3	253827	HP:0001751	Vestibular dysfunction
OMIM:607821	MSRB3	253827	HP:0007642	Congenital stationary night blindness
OMIM:607821	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:607821	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:607821	MSRB3	253827	HP:0000510	Rod-cone dystrophy
OMIM:607821	BSND	7809	HP:0001751	Vestibular dysfunction
OMIM:607821	BSND	7809	HP:0007642	Congenital stationary night blindness
OMIM:607821	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:607821	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:607821	BSND	7809	HP:0000510	Rod-cone dystrophy
OMIM:607821	ESPN	83715	HP:0001751	Vestibular dysfunction
OMIM:607821	ESPN	83715	HP:0007642	Congenital stationary night blindness
OMIM:607821	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:607821	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:607821	ESPN	83715	HP:0000510	Rod-cone dystrophy
OMIM:607821	DFNB31	25861	HP:0001751	Vestibular dysfunction
OMIM:607821	DFNB31	25861	HP:0007642	Congenital stationary night blindness
OMIM:607821	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:607821	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:607821	DFNB31	25861	HP:0000510	Rod-cone dystrophy
OMIM:607821	OTOA	146183	HP:0001751	Vestibular dysfunction
OMIM:607821	OTOA	146183	HP:0007642	Congenital stationary night blindness
OMIM:607821	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:607821	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:607821	OTOA	146183	HP:0000510	Rod-cone dystrophy
OMIM:607821	GJA1	2697	HP:0001751	Vestibular dysfunction
OMIM:607821	GJA1	2697	HP:0007642	Congenital stationary night blindness
OMIM:607821	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:607821	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:607821	GJA1	2697	HP:0000510	Rod-cone dystrophy
OMIM:607821	MET	4233	HP:0001751	Vestibular dysfunction
OMIM:607821	MET	4233	HP:0007642	Congenital stationary night blindness
OMIM:607821	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:607821	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:607821	MET	4233	HP:0000510	Rod-cone dystrophy
OMIM:607821	CLDN14	23562	HP:0001751	Vestibular dysfunction
OMIM:607821	CLDN14	23562	HP:0007642	Congenital stationary night blindness
OMIM:607821	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:607821	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:607821	CLDN14	23562	HP:0000510	Rod-cone dystrophy
OMIM:607821	HGF	3082	HP:0001751	Vestibular dysfunction
OMIM:607821	HGF	3082	HP:0007642	Congenital stationary night blindness
OMIM:607821	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:607821	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:607821	HGF	3082	HP:0000510	Rod-cone dystrophy
OMIM:607821	PNPT1	87178	HP:0001751	Vestibular dysfunction
OMIM:607821	PNPT1	87178	HP:0007642	Congenital stationary night blindness
OMIM:607821	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:607821	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:607821	PNPT1	87178	HP:0000510	Rod-cone dystrophy
OMIM:607821	EPS8	2059	HP:0001751	Vestibular dysfunction
OMIM:607821	EPS8	2059	HP:0007642	Congenital stationary night blindness
OMIM:607821	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:607821	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:607821	EPS8	2059	HP:0000510	Rod-cone dystrophy
OMIM:607821	MYO3A	53904	HP:0001751	Vestibular dysfunction
OMIM:607821	MYO3A	53904	HP:0007642	Congenital stationary night blindness
OMIM:607821	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:607821	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:607821	MYO3A	53904	HP:0000510	Rod-cone dystrophy
OMIM:607821	DCDC2	51473	HP:0001751	Vestibular dysfunction
OMIM:607821	DCDC2	51473	HP:0007642	Congenital stationary night blindness
OMIM:607821	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:607821	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:607821	DCDC2	51473	HP:0000510	Rod-cone dystrophy
OMIM:607821	GJB2	2706	HP:0001751	Vestibular dysfunction
OMIM:607821	GJB2	2706	HP:0007642	Congenital stationary night blindness
OMIM:607821	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:607821	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:607821	GJB2	2706	HP:0000510	Rod-cone dystrophy
OMIM:607821	GJB3	2707	HP:0001751	Vestibular dysfunction
OMIM:607821	GJB3	2707	HP:0007642	Congenital stationary night blindness
OMIM:607821	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:607821	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:607821	GJB3	2707	HP:0000510	Rod-cone dystrophy
OMIM:607821	CABP2	51475	HP:0001751	Vestibular dysfunction
OMIM:607821	CABP2	51475	HP:0007642	Congenital stationary night blindness
OMIM:607821	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:607821	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:607821	CABP2	51475	HP:0000510	Rod-cone dystrophy
OMIM:607821	GRXCR2	643226	HP:0001751	Vestibular dysfunction
OMIM:607821	GRXCR2	643226	HP:0007642	Congenital stationary night blindness
OMIM:607821	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:607821	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:607821	GRXCR2	643226	HP:0000510	Rod-cone dystrophy
OMIM:607821	SERPINB6	5269	HP:0001751	Vestibular dysfunction
OMIM:607821	SERPINB6	5269	HP:0007642	Congenital stationary night blindness
OMIM:607821	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:607821	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:607821	SERPINB6	5269	HP:0000510	Rod-cone dystrophy
OMIM:607821	COL11A2	1302	HP:0001751	Vestibular dysfunction
OMIM:607821	COL11A2	1302	HP:0007642	Congenital stationary night blindness
OMIM:607821	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:607821	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:607821	COL11A2	1302	HP:0000510	Rod-cone dystrophy
OMIM:607821	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:607821	CIB2	10518	HP:0007642	Congenital stationary night blindness
OMIM:607821	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:607821	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:607821	CIB2	10518	HP:0000510	Rod-cone dystrophy
OMIM:607821	FAM65B	9750	HP:0001751	Vestibular dysfunction
OMIM:607821	FAM65B	9750	HP:0007642	Congenital stationary night blindness
OMIM:607821	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:607821	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:607821	FAM65B	9750	HP:0000510	Rod-cone dystrophy
OMIM:607821	KARS	3735	HP:0001751	Vestibular dysfunction
OMIM:607821	KARS	3735	HP:0007642	Congenital stationary night blindness
OMIM:607821	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:607821	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:607821	KARS	3735	HP:0000510	Rod-cone dystrophy
OMIM:607821	LOXHD1	125336	HP:0001751	Vestibular dysfunction
OMIM:607821	LOXHD1	125336	HP:0007642	Congenital stationary night blindness
OMIM:607821	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:607821	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:607821	LOXHD1	125336	HP:0000510	Rod-cone dystrophy
OMIM:607821	TMC1	117531	HP:0001751	Vestibular dysfunction
OMIM:607821	TMC1	117531	HP:0007642	Congenital stationary night blindness
OMIM:607821	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:607821	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:607821	TMC1	117531	HP:0000510	Rod-cone dystrophy
OMIM:607821	CLIC5	53405	HP:0001751	Vestibular dysfunction
OMIM:607821	CLIC5	53405	HP:0007642	Congenital stationary night blindness
OMIM:607821	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:607821	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:607821	CLIC5	53405	HP:0000510	Rod-cone dystrophy
OMIM:607821	OTOF	9381	HP:0001751	Vestibular dysfunction
OMIM:607821	OTOF	9381	HP:0007642	Congenital stationary night blindness
OMIM:607821	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:607821	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:607821	OTOF	9381	HP:0000510	Rod-cone dystrophy
OMIM:607821	MYO6	4646	HP:0001751	Vestibular dysfunction
OMIM:607821	MYO6	4646	HP:0007642	Congenital stationary night blindness
OMIM:607821	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:607821	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:607821	MYO6	4646	HP:0000510	Rod-cone dystrophy
OMIM:607821	TMIE	259236	HP:0001751	Vestibular dysfunction
OMIM:607821	TMIE	259236	HP:0007642	Congenital stationary night blindness
OMIM:607821	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:607821	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:607821	TMIE	259236	HP:0000510	Rod-cone dystrophy
OMIM:607821	MYO7A	4647	HP:0001751	Vestibular dysfunction
OMIM:607821	MYO7A	4647	HP:0007642	Congenital stationary night blindness
OMIM:607821	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:607821	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:607821	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:607821	LRTOMT	220074	HP:0001751	Vestibular dysfunction
OMIM:607821	LRTOMT	220074	HP:0007642	Congenital stationary night blindness
OMIM:607821	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:607821	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:607821	LRTOMT	220074	HP:0000510	Rod-cone dystrophy
OMIM:607821	OTOGL	283310	HP:0001751	Vestibular dysfunction
OMIM:607821	OTOGL	283310	HP:0007642	Congenital stationary night blindness
OMIM:607821	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:607821	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:607821	OTOGL	283310	HP:0000510	Rod-cone dystrophy
OMIM:607821	TPRN	286262	HP:0001751	Vestibular dysfunction
OMIM:607821	TPRN	286262	HP:0007642	Congenital stationary night blindness
OMIM:607821	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:607821	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:607821	TPRN	286262	HP:0000510	Rod-cone dystrophy
OMIM:607821	SLC26A4	5172	HP:0001751	Vestibular dysfunction
OMIM:607821	SLC26A4	5172	HP:0007642	Congenital stationary night blindness
OMIM:607821	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:607821	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:607821	SLC26A4	5172	HP:0000510	Rod-cone dystrophy
OMIM:607821	GJB6	10804	HP:0001751	Vestibular dysfunction
OMIM:607821	GJB6	10804	HP:0007642	Congenital stationary night blindness
OMIM:607821	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:607821	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:607821	GJB6	10804	HP:0000510	Rod-cone dystrophy
OMIM:607821	DFNB59	494513	HP:0001751	Vestibular dysfunction
OMIM:607821	DFNB59	494513	HP:0007642	Congenital stationary night blindness
OMIM:607821	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:607821	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:607821	DFNB59	494513	HP:0000510	Rod-cone dystrophy
OMIM:607821	ESRRB	2103	HP:0001751	Vestibular dysfunction
OMIM:607821	ESRRB	2103	HP:0007642	Congenital stationary night blindness
OMIM:607821	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:607821	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:607821	ESRRB	2103	HP:0000510	Rod-cone dystrophy
OMIM:607821	TMPRSS3	64699	HP:0001751	Vestibular dysfunction
OMIM:607821	TMPRSS3	64699	HP:0007642	Congenital stationary night blindness
OMIM:607821	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:607821	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:607821	TMPRSS3	64699	HP:0000510	Rod-cone dystrophy
OMIM:607821	PTPRQ	374462	HP:0001751	Vestibular dysfunction
OMIM:607821	PTPRQ	374462	HP:0007642	Congenital stationary night blindness
OMIM:607821	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:607821	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:607821	PTPRQ	374462	HP:0000510	Rod-cone dystrophy
OMIM:607821	SLC26A5	375611	HP:0001751	Vestibular dysfunction
OMIM:607821	SLC26A5	375611	HP:0007642	Congenital stationary night blindness
OMIM:607821	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:607821	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:607821	SLC26A5	375611	HP:0000510	Rod-cone dystrophy
OMIM:607821	PCDH15	65217	HP:0001751	Vestibular dysfunction
OMIM:607821	PCDH15	65217	HP:0007642	Congenital stationary night blindness
OMIM:607821	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:607821	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:607821	PCDH15	65217	HP:0000510	Rod-cone dystrophy
OMIM:607821	TSPEAR	54084	HP:0001751	Vestibular dysfunction
OMIM:607821	TSPEAR	54084	HP:0007642	Congenital stationary night blindness
OMIM:607821	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:607821	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:607821	TSPEAR	54084	HP:0000510	Rod-cone dystrophy
OMIM:607821	LHFPL5	222662	HP:0001751	Vestibular dysfunction
OMIM:607821	LHFPL5	222662	HP:0007642	Congenital stationary night blindness
OMIM:607821	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:607821	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:607821	LHFPL5	222662	HP:0000510	Rod-cone dystrophy
OMIM:607821	TRIOBP	11078	HP:0001751	Vestibular dysfunction
OMIM:607821	TRIOBP	11078	HP:0007642	Congenital stationary night blindness
OMIM:607821	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:607821	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:607821	TRIOBP	11078	HP:0000510	Rod-cone dystrophy
OMIM:607821	CDH23	64072	HP:0001751	Vestibular dysfunction
OMIM:607821	CDH23	64072	HP:0007642	Congenital stationary night blindness
OMIM:607821	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:607821	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:607821	CDH23	64072	HP:0000510	Rod-cone dystrophy
OMIM:607821	RDX	5962	HP:0001751	Vestibular dysfunction
OMIM:607821	RDX	5962	HP:0007642	Congenital stationary night blindness
OMIM:607821	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:607821	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:607821	RDX	5962	HP:0000510	Rod-cone dystrophy
OMIM:607821	GPSM2	29899	HP:0001751	Vestibular dysfunction
OMIM:607821	GPSM2	29899	HP:0007642	Congenital stationary night blindness
OMIM:607821	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:607821	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:607821	GPSM2	29899	HP:0000510	Rod-cone dystrophy
OMIM:607821	ELMOD3	84173	HP:0001751	Vestibular dysfunction
OMIM:607821	ELMOD3	84173	HP:0007642	Congenital stationary night blindness
OMIM:607821	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:607821	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:607821	ELMOD3	84173	HP:0000510	Rod-cone dystrophy
OMIM:607821	ILDR1	286676	HP:0001751	Vestibular dysfunction
OMIM:607821	ILDR1	286676	HP:0007642	Congenital stationary night blindness
OMIM:607821	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:607821	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:607821	ILDR1	286676	HP:0000510	Rod-cone dystrophy
OMIM:607821	GRXCR1	389207	HP:0001751	Vestibular dysfunction
OMIM:607821	GRXCR1	389207	HP:0007642	Congenital stationary night blindness
OMIM:607821	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:607821	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:607821	GRXCR1	389207	HP:0000510	Rod-cone dystrophy
OMIM:607821	MARVELD2	153562	HP:0001751	Vestibular dysfunction
OMIM:607821	MARVELD2	153562	HP:0007642	Congenital stationary night blindness
OMIM:607821	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:607821	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:607821	MARVELD2	153562	HP:0000510	Rod-cone dystrophy
OMIM:607821	STRC	161497	HP:0001751	Vestibular dysfunction
OMIM:607821	STRC	161497	HP:0007642	Congenital stationary night blindness
OMIM:607821	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:607821	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:607821	STRC	161497	HP:0000510	Rod-cone dystrophy
OMIM:607821	SLITRK6	84189	HP:0001751	Vestibular dysfunction
OMIM:607821	SLITRK6	84189	HP:0007642	Congenital stationary night blindness
OMIM:607821	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:607821	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:607821	SLITRK6	84189	HP:0000510	Rod-cone dystrophy
OMIM:607821	TECTA	7007	HP:0001751	Vestibular dysfunction
OMIM:607821	TECTA	7007	HP:0007642	Congenital stationary night blindness
OMIM:607821	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:607821	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:607821	TECTA	7007	HP:0000510	Rod-cone dystrophy
OMIM:607821	MYO15A	51168	HP:0001751	Vestibular dysfunction
OMIM:607821	MYO15A	51168	HP:0007642	Congenital stationary night blindness
OMIM:607821	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:607821	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:607821	MYO15A	51168	HP:0000510	Rod-cone dystrophy
OMIM:607821	USH1C	10083	HP:0001751	Vestibular dysfunction
OMIM:607821	USH1C	10083	HP:0007642	Congenital stationary night blindness
OMIM:607821	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:607821	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:607821	USH1C	10083	HP:0000510	Rod-cone dystrophy
OMIM:607821	ADCY1	107	HP:0001751	Vestibular dysfunction
OMIM:607821	ADCY1	107	HP:0007642	Congenital stationary night blindness
OMIM:607821	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:607821	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:607821	ADCY1	107	HP:0000510	Rod-cone dystrophy
OMIM:607821	SYNE4	163183	HP:0001751	Vestibular dysfunction
OMIM:607821	SYNE4	163183	HP:0007642	Congenital stationary night blindness
OMIM:607821	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:607821	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:607821	SYNE4	163183	HP:0000510	Rod-cone dystrophy
OMIM:607821	GIPC3	126326	HP:0001751	Vestibular dysfunction
OMIM:607821	GIPC3	126326	HP:0007642	Congenital stationary night blindness
OMIM:607821	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:607821	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:607821	GIPC3	126326	HP:0000510	Rod-cone dystrophy
OMIM:607821	TBC1D24	57465	HP:0001751	Vestibular dysfunction
OMIM:607821	TBC1D24	57465	HP:0007642	Congenital stationary night blindness
OMIM:607821	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:607821	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:607821	TBC1D24	57465	HP:0000510	Rod-cone dystrophy
OMIM:607821	OTOG	340990	HP:0001751	Vestibular dysfunction
OMIM:607821	OTOG	340990	HP:0007642	Congenital stationary night blindness
OMIM:607821	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:607821	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:607821	OTOG	340990	HP:0000510	Rod-cone dystrophy
OMIM:616461	RELN	5649	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616461	DEPDC5	9681	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616461	GAL	51083	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616461	LGI1	9211	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:600994	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:600994	DIAPH1	1729	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:600994	CEACAM16	388551	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:600994	SLC17A8	246213	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:600994	TJP2	9414	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:600994	ACTG1	71	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:600994	CCDC50	152137	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:600994	MIR96	407053	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:600994	GJB2	2706	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:600994	POU4F3	5459	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:600994	GJB3	2707	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:600994	MYH9	4627	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:600994	CRYM	1428	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:600994	COL11A2	1302	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:600994	EYA4	2070	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:600994	DFNA5	1687	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:600994	DIAPH3	81624	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:600994	TMC1	117531	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:600994	COCH	1690	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:600994	OSBPL2	9885	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:600994	SIX1	6495	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:600994	TECTA	7007	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:600994	MYO1A	4640	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:600994	MYO1C	4641	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:600994	MYO6	4646	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:600994	MYO7A	4647	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:600994	GRHL2	79977	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:600994	DIABLO	56616	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:600994	MYH14	79784	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:600994	P2RX2	22953	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:600994	WFS1	7466	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:600994	TNC	3371	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:600994	KCNQ4	9132	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:600994	HOMER2	9455	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:600994	GJB6	10804	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600994	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:600994	TBC1D24	57465	HP:0000408	Progressive sensorineural hearing impairment
OMIM:166200	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:166200	COL1A1	1277	HP:0002659	Increased susceptibility to fractures
OMIM:166200	COL1A1	1277	HP:0001724	Aortic dilatation
OMIM:166200	COL1A1	1277	HP:0002645	Wormian bones
OMIM:166200	COL1A1	1277	HP:0001507	Growth abnormality
OMIM:166200	COL1A1	1277	HP:0001382	Joint hypermobility
OMIM:166200	COL1A1	1277	HP:0000938	Osteopenia
OMIM:166200	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:166200	COL1A1	1277	HP:0002980	Femoral bowing
OMIM:166200	COL1A1	1277	HP:0000006	Autosomal dominant inheritance
OMIM:166200	COL1A1	1277	HP:0000365	Hearing impairment
OMIM:166200	COL1A1	1277	HP:0001634	Mitral valve prolapse
OMIM:166200	COL1A1	1277	HP:0000963	Thin skin
OMIM:166200	COL1A1	1277	HP:0000978	Bruising susceptibility
OMIM:166200	COL1A2	1278	HP:0002757	Recurrent fractures
OMIM:166200	COL1A2	1278	HP:0002659	Increased susceptibility to fractures
OMIM:166200	COL1A2	1278	HP:0001724	Aortic dilatation
OMIM:166200	COL1A2	1278	HP:0002645	Wormian bones
OMIM:166200	COL1A2	1278	HP:0001507	Growth abnormality
OMIM:166200	COL1A2	1278	HP:0001382	Joint hypermobility
OMIM:166200	COL1A2	1278	HP:0000938	Osteopenia
OMIM:166200	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:166200	COL1A2	1278	HP:0002980	Femoral bowing
OMIM:166200	COL1A2	1278	HP:0000006	Autosomal dominant inheritance
OMIM:166200	COL1A2	1278	HP:0000365	Hearing impairment
OMIM:166200	COL1A2	1278	HP:0001634	Mitral valve prolapse
OMIM:166200	COL1A2	1278	HP:0000963	Thin skin
OMIM:166200	COL1A2	1278	HP:0000978	Bruising susceptibility
OMIM:611777	SCN10A	6336	HP:0001279	Syncope
OMIM:611777	SCN10A	6336	HP:0011705	First degree atrioventricular block
OMIM:611777	SCN10A	6336	HP:0000006	Autosomal dominant inheritance
OMIM:611777	SCN10A	6336	HP:0001663	Ventricular fibrillation
OMIM:611777	SCN10A	6336	HP:0001645	Sudden cardiac death
OMIM:611777	SCN10A	6336	HP:0011712	Right bundle branch block
OMIM:611777	SCN10A	6336	HP:0012248	Prolonged PR interval
OMIM:611777	GPD1L	23171	HP:0001279	Syncope
OMIM:611777	GPD1L	23171	HP:0011705	First degree atrioventricular block
OMIM:611777	GPD1L	23171	HP:0000006	Autosomal dominant inheritance
OMIM:611777	GPD1L	23171	HP:0001663	Ventricular fibrillation
OMIM:611777	GPD1L	23171	HP:0001645	Sudden cardiac death
OMIM:611777	GPD1L	23171	HP:0011712	Right bundle branch block
OMIM:611777	GPD1L	23171	HP:0012248	Prolonged PR interval
OMIM:611777	HCN4	10021	HP:0001279	Syncope
OMIM:611777	HCN4	10021	HP:0011705	First degree atrioventricular block
OMIM:611777	HCN4	10021	HP:0000006	Autosomal dominant inheritance
OMIM:611777	HCN4	10021	HP:0001663	Ventricular fibrillation
OMIM:611777	HCN4	10021	HP:0001645	Sudden cardiac death
OMIM:611777	HCN4	10021	HP:0011712	Right bundle branch block
OMIM:611777	HCN4	10021	HP:0012248	Prolonged PR interval
OMIM:611777	CACNA1C	775	HP:0001279	Syncope
OMIM:611777	CACNA1C	775	HP:0011705	First degree atrioventricular block
OMIM:611777	CACNA1C	775	HP:0000006	Autosomal dominant inheritance
OMIM:611777	CACNA1C	775	HP:0001663	Ventricular fibrillation
OMIM:611777	CACNA1C	775	HP:0001645	Sudden cardiac death
OMIM:611777	CACNA1C	775	HP:0011712	Right bundle branch block
OMIM:611777	CACNA1C	775	HP:0012248	Prolonged PR interval
OMIM:611777	KCND3	3752	HP:0001279	Syncope
OMIM:611777	KCND3	3752	HP:0011705	First degree atrioventricular block
OMIM:611777	KCND3	3752	HP:0000006	Autosomal dominant inheritance
OMIM:611777	KCND3	3752	HP:0001663	Ventricular fibrillation
OMIM:611777	KCND3	3752	HP:0001645	Sudden cardiac death
OMIM:611777	KCND3	3752	HP:0011712	Right bundle branch block
OMIM:611777	KCND3	3752	HP:0012248	Prolonged PR interval
OMIM:611777	TRPM4	54795	HP:0001279	Syncope
OMIM:611777	TRPM4	54795	HP:0011705	First degree atrioventricular block
OMIM:611777	TRPM4	54795	HP:0000006	Autosomal dominant inheritance
OMIM:611777	TRPM4	54795	HP:0001663	Ventricular fibrillation
OMIM:611777	TRPM4	54795	HP:0001645	Sudden cardiac death
OMIM:611777	TRPM4	54795	HP:0011712	Right bundle branch block
OMIM:611777	TRPM4	54795	HP:0012248	Prolonged PR interval
OMIM:611777	CACNA2D1	781	HP:0001279	Syncope
OMIM:611777	CACNA2D1	781	HP:0011705	First degree atrioventricular block
OMIM:611777	CACNA2D1	781	HP:0000006	Autosomal dominant inheritance
OMIM:611777	CACNA2D1	781	HP:0001663	Ventricular fibrillation
OMIM:611777	CACNA2D1	781	HP:0001645	Sudden cardiac death
OMIM:611777	CACNA2D1	781	HP:0011712	Right bundle branch block
OMIM:611777	CACNA2D1	781	HP:0012248	Prolonged PR interval
OMIM:611777	CACNB2	783	HP:0001279	Syncope
OMIM:611777	CACNB2	783	HP:0011705	First degree atrioventricular block
OMIM:611777	CACNB2	783	HP:0000006	Autosomal dominant inheritance
OMIM:611777	CACNB2	783	HP:0001663	Ventricular fibrillation
OMIM:611777	CACNB2	783	HP:0001645	Sudden cardiac death
OMIM:611777	CACNB2	783	HP:0011712	Right bundle branch block
OMIM:611777	CACNB2	783	HP:0012248	Prolonged PR interval
OMIM:611777	SCN1B	6324	HP:0001279	Syncope
OMIM:611777	SCN1B	6324	HP:0011705	First degree atrioventricular block
OMIM:611777	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:611777	SCN1B	6324	HP:0001663	Ventricular fibrillation
OMIM:611777	SCN1B	6324	HP:0001645	Sudden cardiac death
OMIM:611777	SCN1B	6324	HP:0011712	Right bundle branch block
OMIM:611777	SCN1B	6324	HP:0012248	Prolonged PR interval
OMIM:611777	KCNJ8	3764	HP:0001279	Syncope
OMIM:611777	KCNJ8	3764	HP:0011705	First degree atrioventricular block
OMIM:611777	KCNJ8	3764	HP:0000006	Autosomal dominant inheritance
OMIM:611777	KCNJ8	3764	HP:0001663	Ventricular fibrillation
OMIM:611777	KCNJ8	3764	HP:0001645	Sudden cardiac death
OMIM:611777	KCNJ8	3764	HP:0011712	Right bundle branch block
OMIM:611777	KCNJ8	3764	HP:0012248	Prolonged PR interval
OMIM:611777	KCNE3	10008	HP:0001279	Syncope
OMIM:611777	KCNE3	10008	HP:0011705	First degree atrioventricular block
OMIM:611777	KCNE3	10008	HP:0000006	Autosomal dominant inheritance
OMIM:611777	KCNE3	10008	HP:0001663	Ventricular fibrillation
OMIM:611777	KCNE3	10008	HP:0001645	Sudden cardiac death
OMIM:611777	KCNE3	10008	HP:0011712	Right bundle branch block
OMIM:611777	KCNE3	10008	HP:0012248	Prolonged PR interval
OMIM:611777	SCN3B	55800	HP:0001279	Syncope
OMIM:611777	SCN3B	55800	HP:0011705	First degree atrioventricular block
OMIM:611777	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:611777	SCN3B	55800	HP:0001663	Ventricular fibrillation
OMIM:611777	SCN3B	55800	HP:0001645	Sudden cardiac death
OMIM:611777	SCN3B	55800	HP:0011712	Right bundle branch block
OMIM:611777	SCN3B	55800	HP:0012248	Prolonged PR interval
OMIM:611777	SCN5A	6331	HP:0001279	Syncope
OMIM:611777	SCN5A	6331	HP:0011705	First degree atrioventricular block
OMIM:611777	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:611777	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:611777	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:611777	SCN5A	6331	HP:0011712	Right bundle branch block
OMIM:611777	SCN5A	6331	HP:0012248	Prolonged PR interval
OMIM:611777	SLMAP	7871	HP:0001279	Syncope
OMIM:611777	SLMAP	7871	HP:0011705	First degree atrioventricular block
OMIM:611777	SLMAP	7871	HP:0000006	Autosomal dominant inheritance
OMIM:611777	SLMAP	7871	HP:0001663	Ventricular fibrillation
OMIM:611777	SLMAP	7871	HP:0001645	Sudden cardiac death
OMIM:611777	SLMAP	7871	HP:0011712	Right bundle branch block
OMIM:611777	SLMAP	7871	HP:0012248	Prolonged PR interval
OMIM:125850	CEL	1056	HP:0000006	Autosomal dominant inheritance
OMIM:125850	BLK	640	HP:0000006	Autosomal dominant inheritance
OMIM:125850	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:125850	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:125850	APPL1	26060	HP:0000006	Autosomal dominant inheritance
OMIM:125850	KLF11	8462	HP:0000006	Autosomal dominant inheritance
OMIM:125850	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:125850	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:125850	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:125850	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:125850	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:125850	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:125850	NEUROD1	4760	HP:0000006	Autosomal dominant inheritance
OMIM:613024	BCL10	8915	HP:0001287	Meningitis
OMIM:613024	BCL10	8915	HP:0100721	Mediastinal lymphadenopathy
OMIM:613024	BCL10	8915	HP:0001004	Lymphedema
OMIM:613024	BCL10	8915	HP:0004370	Abnormality of temperature regulation
OMIM:613024	BCL10	8915	HP:0004377	Hematological neoplasm
OMIM:613024	BCL10	8915	HP:0001824	Weight loss
OMIM:613024	BCL10	8915	HP:0002665	Lymphoma
OMIM:613024	BCL10	8915	HP:0000975	Hyperhidrosis
OMIM:613024	BCL10	8915	HP:0001744	Splenomegaly
OMIM:613024	HLA-DRB1	3123	HP:0001287	Meningitis
OMIM:613024	HLA-DRB1	3123	HP:0100721	Mediastinal lymphadenopathy
OMIM:613024	HLA-DRB1	3123	HP:0001004	Lymphedema
OMIM:613024	HLA-DRB1	3123	HP:0004370	Abnormality of temperature regulation
OMIM:613024	HLA-DRB1	3123	HP:0004377	Hematological neoplasm
OMIM:613024	HLA-DRB1	3123	HP:0001824	Weight loss
OMIM:613024	HLA-DRB1	3123	HP:0002665	Lymphoma
OMIM:613024	HLA-DRB1	3123	HP:0000975	Hyperhidrosis
OMIM:613024	HLA-DRB1	3123	HP:0001744	Splenomegaly
OMIM:613024	BCL2	596	HP:0001287	Meningitis
OMIM:613024	BCL2	596	HP:0100721	Mediastinal lymphadenopathy
OMIM:613024	BCL2	596	HP:0001004	Lymphedema
OMIM:613024	BCL2	596	HP:0004370	Abnormality of temperature regulation
OMIM:613024	BCL2	596	HP:0004377	Hematological neoplasm
OMIM:613024	BCL2	596	HP:0001824	Weight loss
OMIM:613024	BCL2	596	HP:0002665	Lymphoma
OMIM:613024	BCL2	596	HP:0000975	Hyperhidrosis
OMIM:613024	BCL2	596	HP:0001744	Splenomegaly
OMIM:613024	BCL6	604	HP:0001287	Meningitis
OMIM:613024	BCL6	604	HP:0100721	Mediastinal lymphadenopathy
OMIM:613024	BCL6	604	HP:0001004	Lymphedema
OMIM:613024	BCL6	604	HP:0004370	Abnormality of temperature regulation
OMIM:613024	BCL6	604	HP:0004377	Hematological neoplasm
OMIM:613024	BCL6	604	HP:0001824	Weight loss
OMIM:613024	BCL6	604	HP:0002665	Lymphoma
OMIM:613024	BCL6	604	HP:0000975	Hyperhidrosis
OMIM:613024	BCL6	604	HP:0001744	Splenomegaly
OMIM:606170	KAT6B	23522	HP:0000347	Micrognathia
OMIM:606170	KAT6B	23522	HP:0001601	Laryngomalacia
OMIM:606170	KAT6B	23522	HP:0002999	Patellar dislocation
OMIM:606170	KAT6B	23522	HP:0000365	Hearing impairment
OMIM:606170	KAT6B	23522	HP:0002209	Sparse scalp hair
OMIM:606170	KAT6B	23522	HP:0008665	Clitoral hypertrophy
OMIM:606170	KAT6B	23522	HP:0000280	Coarse facial features
OMIM:606170	KAT6B	23522	HP:0001883	Talipes
OMIM:606170	KAT6B	23522	HP:0000368	Low-set, posteriorly rotated ears
OMIM:606170	KAT6B	23522	HP:0001252	Muscular hypotonia
OMIM:606170	KAT6B	23522	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:606170	KAT6B	23522	HP:0100543	Cognitive impairment
OMIM:606170	KAT6B	23522	HP:0006380	Knee flexion contracture
OMIM:606170	KAT6B	23522	HP:0007165	Periventricular gray matter heterotopia
OMIM:606170	KAT6B	23522	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:606170	KAT6B	23522	HP:0003273	Hip contracture
OMIM:606170	KAT6B	23522	HP:0002089	Pulmonary hypoplasia
OMIM:606170	KAT6B	23522	HP:0030048	Colpocephaly
OMIM:606170	KAT6B	23522	HP:0000316	Hypertelorism
OMIM:606170	KAT6B	23522	HP:0001156	Brachydactyly syndrome
OMIM:606170	KAT6B	23522	HP:0000007	Autosomal recessive inheritance
OMIM:606170	KAT6B	23522	HP:0002104	Apnea
OMIM:606170	KAT6B	23522	HP:0001631	Atria septal defect
OMIM:606170	KAT6B	23522	HP:0000126	Hydronephrosis
OMIM:606170	KAT6B	23522	HP:0000494	Downslanted palpebral fissures
OMIM:606170	KAT6B	23522	HP:0011362	Abnormal hair quantity
OMIM:606170	KAT6B	23522	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:606170	KAT6B	23522	HP:0000003	Multicystic kidney dysplasia
OMIM:606170	KAT6B	23522	HP:0002213	Fine hair
OMIM:606170	KAT6B	23522	HP:0000046	Scrotal hypoplasia
OMIM:606170	KAT6B	23522	HP:0006887	Intellectual disability, progressive
OMIM:606170	KAT6B	23522	HP:0000054	Micropenis
OMIM:606170	KAT6B	23522	HP:0002167	Neurological speech impairment
OMIM:606170	KAT6B	23522	HP:0001762	Talipes equinovarus
OMIM:606170	KAT6B	23522	HP:0006443	Patellar aplasia
OMIM:606170	KAT6B	23522	HP:0001561	Polyhydramnios
OMIM:606170	KAT6B	23522	HP:0002804	Arthrogryposis multiplex congenita
OMIM:606170	KAT6B	23522	HP:0001629	Ventricular septal defect
OMIM:606170	KAT6B	23522	HP:0000113	Polycystic kidney dysplasia
OMIM:606170	KAT6B	23522	HP:0000252	Microcephaly
OMIM:606170	KAT6B	23522	HP:0002015	Dysphagia
OMIM:606170	KAT6B	23522	HP:0008823	Hypoplastic inferior pubic rami
OMIM:606170	KAT6B	23522	HP:0003175	Hypoplastic ischia
OMIM:606170	KAT6B	23522	HP:0001263	Global developmental delay
OMIM:606170	KAT6B	23522	HP:0000028	Cryptorchidism
OMIM:606170	KAT6B	23522	HP:0000448	Prominent nose
OMIM:606170	KAT6B	23522	HP:0005105	Abnormal nasal morphology
OMIM:606170	KAT6B	23522	HP:0002974	Radioulnar synostosis
OMIM:606170	KAT6B	23522	HP:0008694	Hypertrophic labia minora
OMIM:606170	KAT6B	23522	HP:0009803	Short phalanx of finger
OMIM:606170	KAT6B	23522	HP:0000445	Wide nose
OMIM:606170	KAT6B	23522	HP:0001250	Seizures
OMIM:606170	KAT6B	23522	HP:0000684	Delayed eruption of teeth
OMIM:606170	KAT6B	23522	HP:0004322	Short stature
OMIM:606170	KAT6B	23522	HP:0001274	Agenesis of corpus callosum
OMIM:606170	KAT6B	23522	HP:0000055	Abnormality of female external genitalia
OMIM:606170	KAT6B	23522	HP:0000426	Prominent nasal bridge
OMIM:606170	KAT6B	23522	HP:0000343	Long philtrum
OMIM:606170	KAT6B	23522	HP:0001374	Congenital hip dislocation
OMIM:604168	CTDP1	9150	HP:0000762	Decreased nerve conduction velocity
OMIM:604168	CTDP1	9150	HP:0004322	Short stature
OMIM:604168	CTDP1	9150	HP:0100022	Abnormality of movement
OMIM:604168	CTDP1	9150	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:604168	CTDP1	9150	HP:0003487	Babinski sign
OMIM:604168	CTDP1	9150	HP:0000482	Microcornea
OMIM:604168	CTDP1	9150	HP:0001251	Ataxia
OMIM:604168	CTDP1	9150	HP:0007178	Motor polyneuropathy
OMIM:604168	CTDP1	9150	HP:0002059	Cerebral atrophy
OMIM:604168	CTDP1	9150	HP:0000519	Congenital cataract
OMIM:604168	CTDP1	9150	HP:0001762	Talipes equinovarus
OMIM:604168	CTDP1	9150	HP:0000639	Nystagmus
OMIM:604168	CTDP1	9150	HP:0100543	Cognitive impairment
OMIM:604168	CTDP1	9150	HP:0000007	Autosomal recessive inheritance
OMIM:604168	CTDP1	9150	HP:0007182	Peripheral hypomyelination
OMIM:604168	CTDP1	9150	HP:0008734	Decreased testicular size
OMIM:604168	CTDP1	9150	HP:0005105	Abnormal nasal morphology
OMIM:604168	CTDP1	9150	HP:0000347	Micrognathia
OMIM:604168	CTDP1	9150	HP:0002072	Chorea
OMIM:604168	CTDP1	9150	HP:0100490	Camptodactyly of finger
OMIM:604168	CTDP1	9150	HP:0000815	Hypergonadotropic hypogonadism
OMIM:604168	CTDP1	9150	HP:0002808	Kyphosis
OMIM:604168	CTDP1	9150	HP:0002751	Kyphoscoliosis
OMIM:604168	CTDP1	9150	HP:0001761	Pes cavus
OMIM:604168	CTDP1	9150	HP:0003431	Decreased motor nerve conduction velocity
OMIM:604168	CTDP1	9150	HP:0000164	Abnormality of the teeth
OMIM:604168	CTDP1	9150	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:604168	CTDP1	9150	HP:0002650	Scoliosis
OMIM:604168	CTDP1	9150	HP:0008942	Acute rhabdomyolysis
OMIM:604168	CTDP1	9150	HP:0001263	Global developmental delay
OMIM:604168	CTDP1	9150	HP:0001999	Abnormal facial shape
OMIM:604168	CTDP1	9150	HP:0002119	Ventriculomegaly
OMIM:604168	CTDP1	9150	HP:0000276	Long face
OMIM:604168	CTDP1	9150	HP:0001511	Intrauterine growth retardation
OMIM:604168	CTDP1	9150	HP:0001171	Split hand
OMIM:604168	CTDP1	9150	HP:0002120	Cerebral cortical atrophy
OMIM:604168	CTDP1	9150	HP:0003593	Infantile onset
OMIM:604168	CTDP1	9150	HP:0002311	Incoordination
OMIM:604168	CTDP1	9150	HP:0011096	Peripheral demyelination
OMIM:604168	CTDP1	9150	HP:0001249	Intellectual disability
OMIM:604168	CTDP1	9150	HP:0002816	Genu recurvatum
OMIM:604168	CTDP1	9150	HP:0004349	Reduced bone mineral density
OMIM:604168	CTDP1	9150	HP:0000764	Peripheral axonal degeneration
OMIM:604168	CTDP1	9150	HP:0001270	Motor delay
OMIM:604168	CTDP1	9150	HP:0000078	Abnormality of the genital system
OMIM:604168	CTDP1	9150	HP:0000499	Abnormality of the eyelashes
OMIM:604168	CTDP1	9150	HP:0010620	Malar prominence
OMIM:604168	CTDP1	9150	HP:0000486	Strabismus
OMIM:604168	CTDP1	9150	HP:0000518	Cataract
OMIM:604168	CTDP1	9150	HP:0000786	Primary amenorrhea
OMIM:604168	CTDP1	9150	HP:0008214	Decreased serum estradiol
OMIM:612563	TSR2	90121	HP:0001972	Macrocytic anemia
OMIM:612563	TSR2	90121	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPS17	6218	HP:0001972	Macrocytic anemia
OMIM:612563	RPS17	6218	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPL26	6154	HP:0001972	Macrocytic anemia
OMIM:612563	RPL26	6154	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPL5	6125	HP:0001972	Macrocytic anemia
OMIM:612563	RPL5	6125	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPS19	6223	HP:0001972	Macrocytic anemia
OMIM:612563	RPS19	6223	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPS24	6229	HP:0001972	Macrocytic anemia
OMIM:612563	RPS24	6229	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPL35A	6165	HP:0001972	Macrocytic anemia
OMIM:612563	RPL35A	6165	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPL11	6135	HP:0001972	Macrocytic anemia
OMIM:612563	RPL11	6135	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPS26	6231	HP:0001972	Macrocytic anemia
OMIM:612563	RPS26	6231	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPS7	6201	HP:0001972	Macrocytic anemia
OMIM:612563	RPS7	6201	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPL15	6138	HP:0001972	Macrocytic anemia
OMIM:612563	RPL15	6138	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPS28	6234	HP:0001972	Macrocytic anemia
OMIM:612563	RPS28	6234	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPS29	6235	HP:0001972	Macrocytic anemia
OMIM:612563	RPS29	6235	HP:0000006	Autosomal dominant inheritance
OMIM:612563	RPS10	6204	HP:0001972	Macrocytic anemia
OMIM:612563	RPS10	6204	HP:0000006	Autosomal dominant inheritance
OMIM:612563	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:612563	GATA1	2623	HP:0000006	Autosomal dominant inheritance
OMIM:183900	COL2A1	1280	HP:0008800	Limited hip movement
OMIM:183900	COL2A1	1280	HP:0002827	Hip dislocation
OMIM:183900	COL2A1	1280	HP:0001252	Muscular hypotonia
OMIM:183900	COL2A1	1280	HP:0005930	Abnormality of epiphysis morphology
OMIM:183900	COL2A1	1280	HP:0000545	Myopia
OMIM:183900	COL2A1	1280	HP:0002808	Kyphosis
OMIM:183900	COL2A1	1280	HP:0003307	Hyperlordosis
OMIM:183900	COL2A1	1280	HP:0000337	Broad forehead
OMIM:183900	COL2A1	1280	HP:0000316	Hypertelorism
OMIM:183900	COL2A1	1280	HP:0000365	Hearing impairment
OMIM:183900	COL2A1	1280	HP:0000470	Short neck
OMIM:183900	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:183900	COL2A1	1280	HP:0000639	Nystagmus
OMIM:183900	COL2A1	1280	HP:0004322	Short stature
OMIM:183900	COL2A1	1280	HP:0002996	Limited elbow movement
OMIM:183900	COL2A1	1280	HP:0000768	Pectus carinatum
OMIM:183900	COL2A1	1280	HP:0001552	Barrel-shaped chest
OMIM:183900	COL2A1	1280	HP:0003300	Ovoid vertebral bodies
OMIM:183900	COL2A1	1280	HP:0002515	Waddling gait
OMIM:183900	COL2A1	1280	HP:0000175	Cleft palate
OMIM:183900	COL2A1	1280	HP:0000272	Malar flattening
OMIM:183900	COL2A1	1280	HP:0002650	Scoliosis
OMIM:183900	COL2A1	1280	HP:0002758	Osteoarthritis
OMIM:183900	COL2A1	1280	HP:0000501	Glaucoma
OMIM:183900	COL2A1	1280	HP:0000774	Narrow chest
OMIM:183900	COL2A1	1280	HP:0002938	Lumbar hyperlordosis
OMIM:183900	COL2A1	1280	HP:0002652	Skeletal dysplasia
OMIM:183900	COL2A1	1280	HP:0010306	Short thorax
OMIM:183900	COL2A1	1280	HP:0003312	Abnormal form of the vertebral bodies
OMIM:183900	COL2A1	1280	HP:0002091	Restrictive lung disease
OMIM:183900	COL2A1	1280	HP:0000518	Cataract
OMIM:183900	COL2A1	1280	HP:0000541	Retinal detachment
OMIM:183900	COL2A1	1280	HP:0002098	Respiratory distress
OMIM:183900	COL2A1	1280	HP:0000655	Vitreoretinal degeneration
OMIM:183900	COL2A1	1280	HP:0002812	Coxa vara
OMIM:183900	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:183900	COL2A1	1280	HP:0001883	Talipes
OMIM:183900	COL2A1	1280	HP:0002983	Micromelia
OMIM:183900	COL2A1	1280	HP:0001762	Talipes equinovarus
OMIM:183900	COL2A1	1280	HP:0003071	Flattened epiphysis
OMIM:183900	COL2A1	1280	HP:0003311	Hypoplasia of the odontoid process
OMIM:183900	COL2A1	1280	HP:0012368	Flat face
OMIM:261100	AMN	81693	HP:0000093	Proteinuria
OMIM:261100	AMN	81693	HP:0003401	Paresthesia
OMIM:261100	AMN	81693	HP:0000007	Autosomal recessive inheritance
OMIM:261100	AMN	81693	HP:0011463	Childhood onset
OMIM:261100	AMN	81693	HP:0001889	Megaloblastic anemia
OMIM:261100	AMN	81693	HP:0003474	Sensory impairment
OMIM:261100	AMN	81693	HP:0000726	Dementia
OMIM:261100	CUBN	8029	HP:0000093	Proteinuria
OMIM:261100	CUBN	8029	HP:0003401	Paresthesia
OMIM:261100	CUBN	8029	HP:0000007	Autosomal recessive inheritance
OMIM:261100	CUBN	8029	HP:0011463	Childhood onset
OMIM:261100	CUBN	8029	HP:0001889	Megaloblastic anemia
OMIM:261100	CUBN	8029	HP:0003474	Sensory impairment
OMIM:261100	CUBN	8029	HP:0000726	Dementia
OMIM:251450	XYLT1	64131	HP:0003510	Severe short stature
OMIM:251450	XYLT1	64131	HP:0010743	Short metatarsal
OMIM:251450	XYLT1	64131	HP:0002758	Osteoarthritis
OMIM:251450	XYLT1	64131	HP:0002515	Waddling gait
OMIM:251450	XYLT1	64131	HP:0003016	Metaphyseal widening
OMIM:251450	XYLT1	64131	HP:0008873	Disproportionate short-limb short stature
OMIM:251450	XYLT1	64131	HP:0100864	Short femoral neck
OMIM:251450	XYLT1	64131	HP:0001270	Motor delay
OMIM:251450	XYLT1	64131	HP:0003196	Short nose
OMIM:251450	XYLT1	64131	HP:0003307	Hyperlordosis
OMIM:251450	XYLT1	64131	HP:0010034	Short 1st metacarpal
OMIM:251450	XYLT1	64131	HP:0001249	Intellectual disability
OMIM:251450	XYLT1	64131	HP:0000774	Narrow chest
OMIM:251450	XYLT1	64131	HP:0001252	Muscular hypotonia
OMIM:251450	XYLT1	64131	HP:0002673	Coxa valga
OMIM:251450	XYLT1	64131	HP:0000272	Malar flattening
OMIM:251450	XYLT1	64131	HP:0005280	Depressed nasal bridge
OMIM:251450	XYLT1	64131	HP:0004233	Advanced ossification of carpal bones
OMIM:251450	XYLT1	64131	HP:0002970	Genu varum
OMIM:251450	XYLT1	64131	HP:0000160	Narrow mouth
OMIM:251450	XYLT1	64131	HP:0000007	Autosomal recessive inheritance
OMIM:251450	XYLT1	64131	HP:0001513	Obesity
OMIM:251450	XYLT1	64131	HP:0001763	Pes planus
OMIM:251450	XYLT1	64131	HP:0001762	Talipes equinovarus
OMIM:251450	XYLT1	64131	HP:0001852	Sandal gap
OMIM:251450	XYLT1	64131	HP:0002650	Scoliosis
OMIM:251450	XYLT1	64131	HP:0003828	Variable expressivity
OMIM:251450	XYLT1	64131	HP:0000308	Microretrognathia
OMIM:251450	XYLT1	64131	HP:0003071	Flattened epiphysis
OMIM:251450	XYLT1	64131	HP:0000545	Myopia
OMIM:251450	XYLT1	64131	HP:0000470	Short neck
OMIM:251450	XYLT1	64131	HP:0011800	Hypoplasia of midface
OMIM:251450	XYLT1	64131	HP:0000311	Round face
OMIM:251450	XYLT1	64131	HP:0001087	Congenital glaucoma
OMIM:251450	XYLT1	64131	HP:0000939	Osteoporosis
OMIM:251450	XYLT1	64131	HP:0000520	Proptosis
OMIM:251450	XYLT1	64131	HP:0000926	Platyspondyly
OMIM:251450	XYLT1	64131	HP:0001156	Brachydactyly syndrome
OMIM:251450	XYLT1	64131	HP:0002808	Kyphosis
OMIM:251450	XYLT1	64131	HP:0001388	Joint laxity
OMIM:251450	XYLT1	64131	HP:0002812	Coxa vara
OMIM:251450	CANT1	124583	HP:0003510	Severe short stature
OMIM:251450	CANT1	124583	HP:0010743	Short metatarsal
OMIM:251450	CANT1	124583	HP:0002758	Osteoarthritis
OMIM:251450	CANT1	124583	HP:0002515	Waddling gait
OMIM:251450	CANT1	124583	HP:0003016	Metaphyseal widening
OMIM:251450	CANT1	124583	HP:0008873	Disproportionate short-limb short stature
OMIM:251450	CANT1	124583	HP:0100864	Short femoral neck
OMIM:251450	CANT1	124583	HP:0001270	Motor delay
OMIM:251450	CANT1	124583	HP:0003196	Short nose
OMIM:251450	CANT1	124583	HP:0003307	Hyperlordosis
OMIM:251450	CANT1	124583	HP:0010034	Short 1st metacarpal
OMIM:251450	CANT1	124583	HP:0001249	Intellectual disability
OMIM:251450	CANT1	124583	HP:0000774	Narrow chest
OMIM:251450	CANT1	124583	HP:0001252	Muscular hypotonia
OMIM:251450	CANT1	124583	HP:0002673	Coxa valga
OMIM:251450	CANT1	124583	HP:0000272	Malar flattening
OMIM:251450	CANT1	124583	HP:0005280	Depressed nasal bridge
OMIM:251450	CANT1	124583	HP:0004233	Advanced ossification of carpal bones
OMIM:251450	CANT1	124583	HP:0002970	Genu varum
OMIM:251450	CANT1	124583	HP:0000160	Narrow mouth
OMIM:251450	CANT1	124583	HP:0000007	Autosomal recessive inheritance
OMIM:251450	CANT1	124583	HP:0001513	Obesity
OMIM:251450	CANT1	124583	HP:0001763	Pes planus
OMIM:251450	CANT1	124583	HP:0001762	Talipes equinovarus
OMIM:251450	CANT1	124583	HP:0001852	Sandal gap
OMIM:251450	CANT1	124583	HP:0002650	Scoliosis
OMIM:251450	CANT1	124583	HP:0003828	Variable expressivity
OMIM:251450	CANT1	124583	HP:0000308	Microretrognathia
OMIM:251450	CANT1	124583	HP:0003071	Flattened epiphysis
OMIM:251450	CANT1	124583	HP:0000545	Myopia
OMIM:251450	CANT1	124583	HP:0000470	Short neck
OMIM:251450	CANT1	124583	HP:0011800	Hypoplasia of midface
OMIM:251450	CANT1	124583	HP:0000311	Round face
OMIM:251450	CANT1	124583	HP:0001087	Congenital glaucoma
OMIM:251450	CANT1	124583	HP:0000939	Osteoporosis
OMIM:251450	CANT1	124583	HP:0000520	Proptosis
OMIM:251450	CANT1	124583	HP:0000926	Platyspondyly
OMIM:251450	CANT1	124583	HP:0001156	Brachydactyly syndrome
OMIM:251450	CANT1	124583	HP:0002808	Kyphosis
OMIM:251450	CANT1	124583	HP:0001388	Joint laxity
OMIM:251450	CANT1	124583	HP:0002812	Coxa vara
OMIM:613073	MMP13	4322	HP:0100864	Short femoral neck
OMIM:613073	MMP13	4322	HP:0000007	Autosomal recessive inheritance
OMIM:613073	MMP13	4322	HP:0003025	Metaphyseal irregularity
OMIM:613073	MMP13	4322	HP:0002979	Bowing of the legs
OMIM:613073	MMP13	4322	HP:0003016	Metaphyseal widening
OMIM:613073	MMP9	4318	HP:0100864	Short femoral neck
OMIM:613073	MMP9	4318	HP:0000007	Autosomal recessive inheritance
OMIM:613073	MMP9	4318	HP:0003025	Metaphyseal irregularity
OMIM:613073	MMP9	4318	HP:0002979	Bowing of the legs
OMIM:613073	MMP9	4318	HP:0003016	Metaphyseal widening
OMIM:601455	NDRG1	10397	HP:0006958	Abnormal auditory evoked potentials
OMIM:601455	NDRG1	10397	HP:0001265	Hyporeflexia
OMIM:601455	NDRG1	10397	HP:0002460	Distal muscle weakness
OMIM:601455	NDRG1	10397	HP:0000649	Abnormality of visual evoked potentials
OMIM:601455	NDRG1	10397	HP:0001288	Gait disturbance
OMIM:601455	NDRG1	10397	HP:0002936	Distal sensory impairment
OMIM:601455	NDRG1	10397	HP:0003621	Juvenile onset
OMIM:601455	NDRG1	10397	HP:0000365	Hearing impairment
OMIM:601455	NDRG1	10397	HP:0001155	Abnormality of the hand
OMIM:601455	NDRG1	10397	HP:0001284	Areflexia
OMIM:601455	NDRG1	10397	HP:0000007	Autosomal recessive inheritance
OMIM:601455	NDRG1	10397	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:601455	NDRG1	10397	HP:0003693	Distal amyotrophy
OMIM:601455	NDRG1	10397	HP:0000762	Decreased nerve conduction velocity
OMIM:601455	NDRG1	10397	HP:0003383	Onion bulb formation
OMIM:608189	SPINK1	6690	HP:0000006	Autosomal dominant inheritance
OMIM:608189	SPINK1	6690	HP:0002027	Abdominal pain
OMIM:608189	SPINK1	6690	HP:0000007	Autosomal recessive inheritance
OMIM:608189	SPINK1	6690	HP:0002894	Neoplasm of the pancreas
OMIM:608189	CTRC	11330	HP:0000006	Autosomal dominant inheritance
OMIM:608189	CTRC	11330	HP:0002027	Abdominal pain
OMIM:608189	CTRC	11330	HP:0000007	Autosomal recessive inheritance
OMIM:608189	CTRC	11330	HP:0002894	Neoplasm of the pancreas
ORPHANET:79095	AMACR	23600	HP:0001394	Cirrhosis
ORPHANET:79095	AMACR	23600	HP:0009830	Peripheral neuropathy
ORPHANET:79095	AMACR	23600	HP:0002240	Hepatomegaly
ORPHANET:79095	AMACR	23600	HP:0000286	Epicanthus
ORPHANET:79095	AMACR	23600	HP:0000954	Single transverse palmar crease
ORPHANET:79095	AMACR	23600	HP:0001250	Seizures
ORPHANET:79095	AMACR	23600	HP:0003011	Abnormality of the musculature
ORPHANET:79095	AMACR	23600	HP:0005264	Abnormality of the gallbladder
ORPHANET:79095	AMACR	23600	HP:0002383	Encephalitis
ORPHANET:79095	AMACR	23600	HP:0002007	Frontal bossing
ORPHANET:79095	AMACR	23600	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:79095	AMACR	23600	HP:0002024	Malabsorption
OMIM:616409	EEF1A2	1917	HP:0000252	Microcephaly
OMIM:616409	EEF1A2	1917	HP:0000718	Aggressive behavior
OMIM:616409	EEF1A2	1917	HP:0001252	Muscular hypotonia
OMIM:616409	EEF1A2	1917	HP:0001263	Global developmental delay
OMIM:616409	EEF1A2	1917	HP:0002317	Unsteady gait
OMIM:616409	EEF1A2	1917	HP:0002521	Hypsarrhythmia
OMIM:616409	EEF1A2	1917	HP:0200134	Epileptic encephalopathy
OMIM:616409	EEF1A2	1917	HP:0001250	Seizures
OMIM:612233	HSPD1	3329	HP:0001250	Seizures
OMIM:612233	HSPD1	3329	HP:0000007	Autosomal recessive inheritance
OMIM:612233	HSPD1	3329	HP:0000486	Strabismus
OMIM:612233	HSPD1	3329	HP:0003623	Neonatal onset
OMIM:612233	HSPD1	3329	HP:0002104	Apnea
OMIM:612233	HSPD1	3329	HP:0001263	Global developmental delay
OMIM:612233	HSPD1	3329	HP:0003487	Babinski sign
OMIM:612233	HSPD1	3329	HP:0002415	Leukodystrophy
OMIM:612233	HSPD1	3329	HP:0000639	Nystagmus
OMIM:612233	HSPD1	3329	HP:0005484	Postnatal microcephaly
OMIM:612233	HSPD1	3329	HP:0001371	Flexion contracture
OMIM:612233	HSPD1	3329	HP:0001252	Muscular hypotonia
OMIM:612233	HSPD1	3329	HP:0008872	Feeding difficulties in infancy
OMIM:612233	HSPD1	3329	HP:0001266	Choreoathetosis
OMIM:612233	HSPD1	3329	HP:0001347	Hyperreflexia
OMIM:612233	HSPD1	3329	HP:0002187	Intellectual disability, profound
OMIM:612518	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DNAAF2	55172	HP:0011109	Chronic sinusitis
OMIM:612518	DNAAF2	55172	HP:0011108	Recurrent sinusitis
OMIM:612518	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:612518	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:612518	CCNO	10309	HP:0011109	Chronic sinusitis
OMIM:612518	CCNO	10309	HP:0011108	Recurrent sinusitis
OMIM:612518	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:612518	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DNAAF5	54919	HP:0011109	Chronic sinusitis
OMIM:612518	DNAAF5	54919	HP:0011108	Recurrent sinusitis
OMIM:612518	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:612518	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DNAAF3	352909	HP:0011109	Chronic sinusitis
OMIM:612518	DNAAF3	352909	HP:0011108	Recurrent sinusitis
OMIM:612518	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:612518	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DNAI1	27019	HP:0011109	Chronic sinusitis
OMIM:612518	DNAI1	27019	HP:0011108	Recurrent sinusitis
OMIM:612518	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:612518	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DRC1	92749	HP:0011109	Chronic sinusitis
OMIM:612518	DRC1	92749	HP:0011108	Recurrent sinusitis
OMIM:612518	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:612518	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:612518	SPAG1	6674	HP:0011109	Chronic sinusitis
OMIM:612518	SPAG1	6674	HP:0011108	Recurrent sinusitis
OMIM:612518	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:612518	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:612518	RSPH3	83861	HP:0011109	Chronic sinusitis
OMIM:612518	RSPH3	83861	HP:0011108	Recurrent sinusitis
OMIM:612518	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:612518	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:612518	RPGR	6103	HP:0011109	Chronic sinusitis
OMIM:612518	RPGR	6103	HP:0011108	Recurrent sinusitis
OMIM:612518	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:612518	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:612518	LRRC6	23639	HP:0011109	Chronic sinusitis
OMIM:612518	LRRC6	23639	HP:0011108	Recurrent sinusitis
OMIM:612518	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:612518	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DNAL1	83544	HP:0011109	Chronic sinusitis
OMIM:612518	DNAL1	83544	HP:0011108	Recurrent sinusitis
OMIM:612518	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:612518	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:612518	ARMC4	55130	HP:0011109	Chronic sinusitis
OMIM:612518	ARMC4	55130	HP:0011108	Recurrent sinusitis
OMIM:612518	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:612518	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:612518	CCDC103	388389	HP:0011109	Chronic sinusitis
OMIM:612518	CCDC103	388389	HP:0011108	Recurrent sinusitis
OMIM:612518	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:612518	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:612518	OFD1	8481	HP:0011109	Chronic sinusitis
OMIM:612518	OFD1	8481	HP:0011108	Recurrent sinusitis
OMIM:612518	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:612518	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DNAAF1	123872	HP:0011109	Chronic sinusitis
OMIM:612518	DNAAF1	123872	HP:0011108	Recurrent sinusitis
OMIM:612518	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:612518	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:612518	RSPH4A	345895	HP:0011109	Chronic sinusitis
OMIM:612518	RSPH4A	345895	HP:0011108	Recurrent sinusitis
OMIM:612518	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:612518	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:612518	RSPH1	89765	HP:0011109	Chronic sinusitis
OMIM:612518	RSPH1	89765	HP:0011108	Recurrent sinusitis
OMIM:612518	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:612518	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:612518	ZMYND10	51364	HP:0011109	Chronic sinusitis
OMIM:612518	ZMYND10	51364	HP:0011108	Recurrent sinusitis
OMIM:612518	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:612518	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DNAH5	1767	HP:0011109	Chronic sinusitis
OMIM:612518	DNAH5	1767	HP:0011108	Recurrent sinusitis
OMIM:612518	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:612518	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:612518	CCDC65	85478	HP:0011109	Chronic sinusitis
OMIM:612518	CCDC65	85478	HP:0011108	Recurrent sinusitis
OMIM:612518	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:612518	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:612518	C21ORF59	56683	HP:0011109	Chronic sinusitis
OMIM:612518	C21ORF59	56683	HP:0011108	Recurrent sinusitis
OMIM:612518	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:612518	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DYX1C1	161582	HP:0011109	Chronic sinusitis
OMIM:612518	DYX1C1	161582	HP:0011108	Recurrent sinusitis
OMIM:612518	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:612518	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:612518	CCDC151	115948	HP:0011109	Chronic sinusitis
OMIM:612518	CCDC151	115948	HP:0011108	Recurrent sinusitis
OMIM:612518	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:612518	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:612518	RSPH9	221421	HP:0011109	Chronic sinusitis
OMIM:612518	RSPH9	221421	HP:0011108	Recurrent sinusitis
OMIM:612518	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:612518	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:612518	CCDC39	339829	HP:0011109	Chronic sinusitis
OMIM:612518	CCDC39	339829	HP:0011108	Recurrent sinusitis
OMIM:612518	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:612518	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:612518	HYDIN	54768	HP:0011109	Chronic sinusitis
OMIM:612518	HYDIN	54768	HP:0011108	Recurrent sinusitis
OMIM:612518	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:612518	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:612518	CCDC114	93233	HP:0011109	Chronic sinusitis
OMIM:612518	CCDC114	93233	HP:0011108	Recurrent sinusitis
OMIM:612518	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:612518	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:612518	NME8	51314	HP:0011109	Chronic sinusitis
OMIM:612518	NME8	51314	HP:0011108	Recurrent sinusitis
OMIM:612518	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:612518	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:612518	CCDC40	55036	HP:0011109	Chronic sinusitis
OMIM:612518	CCDC40	55036	HP:0011108	Recurrent sinusitis
OMIM:612518	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:612518	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DNAH11	8701	HP:0011109	Chronic sinusitis
OMIM:612518	DNAH11	8701	HP:0011108	Recurrent sinusitis
OMIM:612518	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:612518	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:612518	DNAI2	64446	HP:0011109	Chronic sinusitis
OMIM:612518	DNAI2	64446	HP:0011108	Recurrent sinusitis
OMIM:612518	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:612518	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:612518	GAS8	2622	HP:0011109	Chronic sinusitis
OMIM:612518	GAS8	2622	HP:0011108	Recurrent sinusitis
OMIM:612518	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:613158	POMT2	29954	HP:0003593	Infantile onset
OMIM:613158	POMT2	29954	HP:0003828	Variable expressivity
OMIM:613158	POMT2	29954	HP:0001270	Motor delay
OMIM:613158	POMT2	29954	HP:0003712	Skeletal muscle hypertrophy
OMIM:613158	POMT2	29954	HP:0011712	Right bundle branch block
OMIM:613158	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:613158	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:613158	POMT2	29954	HP:0003701	Proximal muscle weakness
OMIM:613158	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:600105	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:600105	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:600105	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:600105	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:600105	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:600105	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:600105	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:600105	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:600105	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:600105	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:600105	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:600105	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:600105	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:600105	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:600105	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:600105	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:600105	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:600105	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:600105	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:600105	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:600105	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:600105	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:600105	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:600105	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:600105	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:600105	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:600105	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:600105	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:600105	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:600105	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:600105	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:600105	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:600105	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:600105	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:600105	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:600105	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:600105	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:600105	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:600105	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:600105	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:600105	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:600105	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:600105	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:600105	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:600105	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:600105	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:600105	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:600105	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:600105	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:600105	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:600105	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:600105	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:600105	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:600105	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:600105	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:600105	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:600105	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:600105	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:600105	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:600105	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:600105	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:600105	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:600105	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:600105	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:600105	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:600105	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:600105	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:600105	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:600105	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:600105	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:600105	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:600105	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:600105	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:600105	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:600105	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:600105	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:600105	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:600105	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:600105	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:600105	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:600105	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:600105	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:600105	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:600105	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:600105	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:600105	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:600105	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:600105	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:600105	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:600105	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:600105	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:600105	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:600105	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:600105	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:600105	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:600105	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:600105	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:600105	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:600105	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:600105	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:600105	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:600105	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:600105	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:600105	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:600105	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:600105	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:600105	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:600105	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:600105	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:600105	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:600105	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:600105	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:600105	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:600105	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:600105	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:600105	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:600105	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:600105	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:600105	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:600105	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:600105	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:600105	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:600105	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:600105	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:600105	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:600105	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:600105	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:614149	RSPO4	343637	HP:0008400	Onycholysis of distal fingernails
OMIM:614149	RSPO4	343637	HP:0000007	Autosomal recessive inheritance
OMIM:614149	RSPO4	343637	HP:0001802	Absent toenail
OMIM:614418	CPA6	57094	HP:0000007	Autosomal recessive inheritance
OMIM:614418	CPA6	57094	HP:0002069	Generalized tonic-clonic seizures
OMIM:614418	CPA6	57094	HP:0002373	Febrile seizures
OMIM:300653	PGK1	5230	HP:0000083	Renal insufficiency
OMIM:300653	PGK1	5230	HP:0001250	Seizures
OMIM:300653	PGK1	5230	HP:0000556	Retinal dystrophy
OMIM:300653	PGK1	5230	HP:0001263	Global developmental delay
OMIM:300653	PGK1	5230	HP:0001249	Intellectual disability
OMIM:300653	PGK1	5230	HP:0003710	Exercise-induced muscle cramps
OMIM:300653	PGK1	5230	HP:0003198	Myopathy
OMIM:300653	PGK1	5230	HP:0002076	Migraine
OMIM:300653	PGK1	5230	HP:0001251	Ataxia
OMIM:300653	PGK1	5230	HP:0001419	X-linked recessive inheritance
OMIM:300653	PGK1	5230	HP:0003201	Rhabdomyolysis
OMIM:300653	PGK1	5230	HP:0003546	Exercise intolerance
OMIM:300653	PGK1	5230	HP:0000572	Visual loss
OMIM:300653	PGK1	5230	HP:0008305	Exercise-induced myoglobinuria
OMIM:300653	PGK1	5230	HP:0001878	Hemolytic anemia
OMIM:300653	PGK1	5230	HP:0000750	Delayed speech and language development
OMIM:300653	PGK1	5230	HP:0001923	Reticulocytosis
OMIM:300653	PGK1	5230	HP:0000712	Emotional lability
OMIM:300653	PGK1	5230	HP:0003812	Phenotypic variability
OMIM:615065	ECEL1	9427	HP:0004322	Short stature
OMIM:615065	ECEL1	9427	HP:0000347	Micrognathia
OMIM:615065	ECEL1	9427	HP:0002553	Highly arched eyebrow
OMIM:615065	ECEL1	9427	HP:0001181	Adducted thumb
OMIM:615065	ECEL1	9427	HP:0012385	Camptodactyly
OMIM:615065	ECEL1	9427	HP:0000463	Anteverted nares
OMIM:615065	ECEL1	9427	HP:0000311	Round face
OMIM:615065	ECEL1	9427	HP:0001762	Talipes equinovarus
OMIM:615065	ECEL1	9427	HP:0000470	Short neck
OMIM:615065	ECEL1	9427	HP:0000007	Autosomal recessive inheritance
OMIM:615065	ECEL1	9427	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615065	ECEL1	9427	HP:0002987	Elbow flexion contracture
OMIM:615065	ECEL1	9427	HP:0000175	Cleft palate
OMIM:615065	ECEL1	9427	HP:0000414	Bulbous nose
OMIM:615065	ECEL1	9427	HP:0003307	Hyperlordosis
OMIM:613646	CD320	51293	HP:0012120	Methylmalonic aciduria
OMIM:613646	CD320	51293	HP:0000007	Autosomal recessive inheritance
OMIM:613000	KRT16	3868	HP:0000006	Autosomal dominant inheritance
OMIM:613000	KRT16	3868	HP:0000982	Palmoplantar keratoderma
OMIM:611895	TREM2	54209	HP:0003693	Distal amyotrophy
OMIM:611895	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:611895	TREM2	54209	HP:0002460	Distal muscle weakness
OMIM:611895	TREM2	54209	HP:0001257	Spasticity
OMIM:611895	VAPB	9217	HP:0003693	Distal amyotrophy
OMIM:611895	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:611895	VAPB	9217	HP:0002460	Distal muscle weakness
OMIM:611895	VAPB	9217	HP:0001257	Spasticity
OMIM:611895	PON1	5444	HP:0003693	Distal amyotrophy
OMIM:611895	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:611895	PON1	5444	HP:0002460	Distal muscle weakness
OMIM:611895	PON1	5444	HP:0001257	Spasticity
OMIM:611895	PON2	5445	HP:0003693	Distal amyotrophy
OMIM:611895	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:611895	PON2	5445	HP:0002460	Distal muscle weakness
OMIM:611895	PON2	5445	HP:0001257	Spasticity
OMIM:611895	PON3	5446	HP:0003693	Distal amyotrophy
OMIM:611895	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:611895	PON3	5446	HP:0002460	Distal muscle weakness
OMIM:611895	PON3	5446	HP:0001257	Spasticity
OMIM:611895	NEFH	4744	HP:0003693	Distal amyotrophy
OMIM:611895	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:611895	NEFH	4744	HP:0002460	Distal muscle weakness
OMIM:611895	NEFH	4744	HP:0001257	Spasticity
OMIM:611895	DAO	1610	HP:0003693	Distal amyotrophy
OMIM:611895	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:611895	DAO	1610	HP:0002460	Distal muscle weakness
OMIM:611895	DAO	1610	HP:0001257	Spasticity
OMIM:611895	TARDBP	23435	HP:0003693	Distal amyotrophy
OMIM:611895	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:611895	TARDBP	23435	HP:0002460	Distal muscle weakness
OMIM:611895	TARDBP	23435	HP:0001257	Spasticity
OMIM:611895	PPARGC1A	10891	HP:0003693	Distal amyotrophy
OMIM:611895	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:611895	PPARGC1A	10891	HP:0002460	Distal muscle weakness
OMIM:611895	PPARGC1A	10891	HP:0001257	Spasticity
OMIM:611895	ERBB4	2066	HP:0003693	Distal amyotrophy
OMIM:611895	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:611895	ERBB4	2066	HP:0002460	Distal muscle weakness
OMIM:611895	ERBB4	2066	HP:0001257	Spasticity
OMIM:611895	CHCHD10	400916	HP:0003693	Distal amyotrophy
OMIM:611895	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:611895	CHCHD10	400916	HP:0002460	Distal muscle weakness
OMIM:611895	CHCHD10	400916	HP:0001257	Spasticity
OMIM:611895	OPTN	10133	HP:0003693	Distal amyotrophy
OMIM:611895	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:611895	OPTN	10133	HP:0002460	Distal muscle weakness
OMIM:611895	OPTN	10133	HP:0001257	Spasticity
OMIM:611895	FUS	2521	HP:0003693	Distal amyotrophy
OMIM:611895	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:611895	FUS	2521	HP:0002460	Distal muscle weakness
OMIM:611895	FUS	2521	HP:0001257	Spasticity
OMIM:611895	UBQLN2	29978	HP:0003693	Distal amyotrophy
OMIM:611895	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:611895	UBQLN2	29978	HP:0002460	Distal muscle weakness
OMIM:611895	UBQLN2	29978	HP:0001257	Spasticity
OMIM:611895	ANG	283	HP:0003693	Distal amyotrophy
OMIM:611895	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:611895	ANG	283	HP:0002460	Distal muscle weakness
OMIM:611895	ANG	283	HP:0001257	Spasticity
OMIM:611895	C9ORF72	203228	HP:0003693	Distal amyotrophy
OMIM:611895	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:611895	C9ORF72	203228	HP:0002460	Distal muscle weakness
OMIM:611895	C9ORF72	203228	HP:0001257	Spasticity
OMIM:611895	PFN1	5216	HP:0003693	Distal amyotrophy
OMIM:611895	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:611895	PFN1	5216	HP:0002460	Distal muscle weakness
OMIM:611895	PFN1	5216	HP:0001257	Spasticity
OMIM:611895	ATXN2	6311	HP:0003693	Distal amyotrophy
OMIM:611895	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:611895	ATXN2	6311	HP:0002460	Distal muscle weakness
OMIM:611895	ATXN2	6311	HP:0001257	Spasticity
OMIM:611895	DCTN1	1639	HP:0003693	Distal amyotrophy
OMIM:611895	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:611895	DCTN1	1639	HP:0002460	Distal muscle weakness
OMIM:611895	DCTN1	1639	HP:0001257	Spasticity
OMIM:611895	FIG4	9896	HP:0003693	Distal amyotrophy
OMIM:611895	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:611895	FIG4	9896	HP:0002460	Distal muscle weakness
OMIM:611895	FIG4	9896	HP:0001257	Spasticity
OMIM:611895	HNRNPA1	3178	HP:0003693	Distal amyotrophy
OMIM:611895	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:611895	HNRNPA1	3178	HP:0002460	Distal muscle weakness
OMIM:611895	HNRNPA1	3178	HP:0001257	Spasticity
OMIM:611895	SQSTM1	8878	HP:0003693	Distal amyotrophy
OMIM:611895	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:611895	SQSTM1	8878	HP:0002460	Distal muscle weakness
OMIM:611895	SQSTM1	8878	HP:0001257	Spasticity
OMIM:611895	UNC13A	23025	HP:0003693	Distal amyotrophy
OMIM:611895	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:611895	UNC13A	23025	HP:0002460	Distal muscle weakness
OMIM:611895	UNC13A	23025	HP:0001257	Spasticity
OMIM:611895	MATR3	9782	HP:0003693	Distal amyotrophy
OMIM:611895	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:611895	MATR3	9782	HP:0002460	Distal muscle weakness
OMIM:611895	MATR3	9782	HP:0001257	Spasticity
OMIM:611895	TBK1	29110	HP:0003693	Distal amyotrophy
OMIM:611895	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:611895	TBK1	29110	HP:0002460	Distal muscle weakness
OMIM:611895	TBK1	29110	HP:0001257	Spasticity
OMIM:611895	SOD1	6647	HP:0003693	Distal amyotrophy
OMIM:611895	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:611895	SOD1	6647	HP:0002460	Distal muscle weakness
OMIM:611895	SOD1	6647	HP:0001257	Spasticity
OMIM:611895	VCP	7415	HP:0003693	Distal amyotrophy
OMIM:611895	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:611895	VCP	7415	HP:0002460	Distal muscle weakness
OMIM:611895	VCP	7415	HP:0001257	Spasticity
OMIM:611895	CHMP2B	25978	HP:0003693	Distal amyotrophy
OMIM:611895	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:611895	CHMP2B	25978	HP:0002460	Distal muscle weakness
OMIM:611895	CHMP2B	25978	HP:0001257	Spasticity
OMIM:611895	PRPH	5630	HP:0003693	Distal amyotrophy
OMIM:611895	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:611895	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:611895	PRPH	5630	HP:0002460	Distal muscle weakness
OMIM:611895	PRPH	5630	HP:0001257	Spasticity
OMIM:124020	CYP2C19	1557	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:124020	CYP2C19	1557	HP:0000007	Autosomal recessive inheritance
OMIM:613908	TGM6	343641	HP:0003487	Babinski sign
OMIM:613908	TGM6	343641	HP:0002355	Difficulty walking
OMIM:613908	TGM6	343641	HP:0001347	Hyperreflexia
OMIM:613908	TGM6	343641	HP:0001272	Cerebellar atrophy
OMIM:613908	TGM6	343641	HP:0003581	Adult onset
OMIM:613908	TGM6	343641	HP:0000473	Torticollis
OMIM:613908	TGM6	343641	HP:0000315	Abnormality of the orbital region
OMIM:613908	TGM6	343641	HP:0000006	Autosomal dominant inheritance
OMIM:613908	TGM6	343641	HP:0001310	Dysmetria
OMIM:613908	TGM6	343641	HP:0000467	Neck muscle weakness
OMIM:613908	TGM6	343641	HP:0002311	Incoordination
OMIM:613908	TGM6	343641	HP:0003677	Slow progression
OMIM:613908	TGM6	343641	HP:0001260	Dysarthria
OMIM:615637	KPTN	11133	HP:0004209	Clinodactyly of the 5th finger
OMIM:615637	KPTN	11133	HP:0001250	Seizures
OMIM:615637	KPTN	11133	HP:0000007	Autosomal recessive inheritance
OMIM:615637	KPTN	11133	HP:0000455	Broad nasal tip
OMIM:615637	KPTN	11133	HP:0000733	Stereotypic behavior
OMIM:615637	KPTN	11133	HP:0001249	Intellectual disability
OMIM:615637	KPTN	11133	HP:0001263	Global developmental delay
OMIM:615637	KPTN	11133	HP:0000268	Dolichocephaly
OMIM:615637	KPTN	11133	HP:0000494	Downslanted palpebral fissures
OMIM:615637	KPTN	11133	HP:0000303	Mandibular prognathia
OMIM:615637	KPTN	11133	HP:0000739	Anxiety
OMIM:615637	KPTN	11133	HP:0001252	Muscular hypotonia
OMIM:615637	KPTN	11133	HP:0003577	Congenital onset
OMIM:615637	KPTN	11133	HP:0002007	Frontal bossing
OMIM:174000	MUC1	4582	HP:0000006	Autosomal dominant inheritance
OMIM:174000	MUC1	4582	HP:0000096	Glomerulosclerosis
OMIM:174000	MUC1	4582	HP:0003774	Stage 5 chronic kidney disease
OMIM:174000	MUC1	4582	HP:0003581	Adult onset
OMIM:174000	MUC1	4582	HP:0003259	Elevated serum creatinine
OMIM:174000	MUC1	4582	HP:0002120	Cerebral cortical atrophy
OMIM:174000	MUC1	4582	HP:0000089	Renal hypoplasia
OMIM:174000	MUC1	4582	HP:0001903	Anemia
OMIM:174000	MUC1	4582	HP:0000822	Hypertension
OMIM:174000	MUC1	4582	HP:0001970	Tubulointerstitial nephritis
OMIM:614420	DNASE1L3	1776	HP:0000007	Autosomal recessive inheritance
OMIM:614420	DNASE1L3	1776	HP:0000123	Nephritis
OMIM:614420	DNASE1L3	1776	HP:0002725	Systemic lupus erythematosus
OMIM:614420	PRKCD	5580	HP:0000007	Autosomal recessive inheritance
OMIM:614420	PRKCD	5580	HP:0000123	Nephritis
OMIM:614420	PRKCD	5580	HP:0002725	Systemic lupus erythematosus
OMIM:156250	PTPN11	5781	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:156250	PTPN11	5781	HP:0005930	Abnormality of epiphysis morphology
OMIM:156250	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:156250	PTPN11	5781	HP:0000934	Chondrocalcinosis
OMIM:156250	PTPN11	5781	HP:0100777	Exostoses
OMIM:156250	PTPN11	5781	HP:0000944	Abnormality of the metaphyses
OMIM:156250	PTPN11	5781	HP:0002653	Bone pain
OMIM:156250	PTPN11	5781	HP:0006487	Bowing of the long bones
OMIM:156250	PTPN11	5781	HP:0001367	Abnormal joint morphology
OMIM:156250	PTPN11	5781	HP:0006824	Cranial nerve paralysis
OMIM:177400	BCHE	590	HP:0000007	Autosomal recessive inheritance
OMIM:177400	BCHE	590	HP:0002104	Apnea
OMIM:604145	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:604145	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:604145	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:604145	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:604145	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:604145	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:604145	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:604145	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:604145	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:604145	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:604145	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:604145	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:604145	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:604145	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:604145	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:604145	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:604145	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:604145	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:604145	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:604145	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:604145	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:604145	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:604145	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:604145	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:604145	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:604145	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:604145	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:604145	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:604145	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:604145	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:604145	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:604145	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:604145	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:604145	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:604145	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:604145	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:604145	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:604145	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:604145	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:604145	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:604145	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:604145	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:604145	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:604145	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:604145	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:604145	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:604145	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:604145	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:604145	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:604145	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:604145	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:604145	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:604145	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:604145	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:604145	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:604145	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:604145	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:604145	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:604145	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:604145	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:604145	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:604145	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:604145	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:604145	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:604145	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:604145	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:604145	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:604145	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:604145	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:604145	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:604145	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:604145	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:604145	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:604145	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:604145	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:604145	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:604145	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:604145	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:614279	AKR1C4	1109	HP:0000037	Male pseudohermaphroditism
OMIM:614279	AKR1C4	1109	HP:0000062	Ambiguous genitalia
OMIM:614279	AKR1C4	1109	HP:0012245	Sex reversal
OMIM:614279	AKR1C4	1109	HP:0000028	Cryptorchidism
OMIM:614279	AKR1C4	1109	HP:0000007	Autosomal recessive inheritance
OMIM:614279	AKR1C2	1646	HP:0000037	Male pseudohermaphroditism
OMIM:614279	AKR1C2	1646	HP:0000062	Ambiguous genitalia
OMIM:614279	AKR1C2	1646	HP:0012245	Sex reversal
OMIM:614279	AKR1C2	1646	HP:0000028	Cryptorchidism
OMIM:614279	AKR1C2	1646	HP:0000007	Autosomal recessive inheritance
OMIM:132400	COMP	1311	HP:0002515	Waddling gait
OMIM:132400	COMP	1311	HP:0002829	Arthralgia
OMIM:132400	COMP	1311	HP:0003272	Abnormality of the hip bone
OMIM:132400	COMP	1311	HP:0001156	Brachydactyly syndrome
OMIM:132400	COMP	1311	HP:0009803	Short phalanx of finger
OMIM:132400	COMP	1311	HP:0100864	Short femoral neck
OMIM:132400	COMP	1311	HP:0003300	Ovoid vertebral bodies
OMIM:132400	COMP	1311	HP:0002970	Genu varum
OMIM:132400	COMP	1311	HP:0000006	Autosomal dominant inheritance
OMIM:132400	COMP	1311	HP:0002857	Genu valgum
OMIM:132400	COMP	1311	HP:0002663	Delayed epiphyseal ossification
OMIM:132400	COMP	1311	HP:0003301	Irregular vertebral endplates
OMIM:132400	COMP	1311	HP:0010049	Short metacarpal
OMIM:132400	COMP	1311	HP:0001387	Joint stiffness
OMIM:132400	COMP	1311	HP:0008800	Limited hip movement
OMIM:132400	COMP	1311	HP:0002983	Micromelia
OMIM:132400	COMP	1311	HP:0008873	Disproportionate short-limb short stature
OMIM:611890	GLE1	2733	HP:0000470	Short neck
OMIM:611890	GLE1	2733	HP:0006802	Abnormal anterior horn cell morphology
OMIM:611890	GLE1	2733	HP:0002804	Arthrogryposis multiplex congenita
OMIM:611890	GLE1	2733	HP:0000007	Autosomal recessive inheritance
OMIM:611890	GLE1	2733	HP:0003202	Skeletal muscle atrophy
OMIM:611890	GLE1	2733	HP:0000369	Low-set ears
OMIM:271640	B3GALT6	126792	HP:0003083	Dislocated radial head
OMIM:271640	B3GALT6	126792	HP:0001763	Pes planus
OMIM:271640	B3GALT6	126792	HP:0001027	Soft, doughy skin
OMIM:271640	B3GALT6	126792	HP:0001371	Flexion contracture
OMIM:271640	B3GALT6	126792	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:271640	B3GALT6	126792	HP:0003026	Short long bone
OMIM:271640	B3GALT6	126792	HP:0004322	Short stature
OMIM:271640	B3GALT6	126792	HP:0000218	High palate
OMIM:271640	B3GALT6	126792	HP:0001631	Atria septal defect
OMIM:271640	B3GALT6	126792	HP:0008012	Congenital myopia
OMIM:271640	B3GALT6	126792	HP:0001083	Ectopia lentis
OMIM:271640	B3GALT6	126792	HP:0002986	Radial bowing
OMIM:271640	B3GALT6	126792	HP:0100864	Short femoral neck
OMIM:271640	B3GALT6	126792	HP:0004348	Abnormality of bone mineral density
OMIM:271640	B3GALT6	126792	HP:0012368	Flat face
OMIM:271640	B3GALT6	126792	HP:0002673	Coxa valga
OMIM:271640	B3GALT6	126792	HP:0000974	Hyperextensible skin
OMIM:271640	B3GALT6	126792	HP:0000343	Long philtrum
OMIM:271640	B3GALT6	126792	HP:0100777	Exostoses
OMIM:271640	B3GALT6	126792	HP:0003042	Elbow dislocation
OMIM:271640	B3GALT6	126792	HP:0008828	Delayed proximal femoral epiphyseal ossification
OMIM:271640	B3GALT6	126792	HP:0002857	Genu valgum
OMIM:271640	B3GALT6	126792	HP:0008824	Hypoplastic iliac body
OMIM:271640	B3GALT6	126792	HP:0001382	Joint hypermobility
OMIM:271640	B3GALT6	126792	HP:0000592	Blue sclerae
OMIM:271640	B3GALT6	126792	HP:0001671	Abnormality of the cardiac septa
OMIM:271640	B3GALT6	126792	HP:0000300	Oval face
OMIM:271640	B3GALT6	126792	HP:0003510	Severe short stature
OMIM:271640	B3GALT6	126792	HP:0000878	11 pairs of ribs
OMIM:271640	B3GALT6	126792	HP:0000944	Abnormality of the metaphyses
OMIM:271640	B3GALT6	126792	HP:0002869	Flared iliac wings
OMIM:271640	B3GALT6	126792	HP:0002751	Kyphoscoliosis
OMIM:271640	B3GALT6	126792	HP:0003015	Flared metaphysis
OMIM:271640	B3GALT6	126792	HP:0000470	Short neck
OMIM:271640	B3GALT6	126792	HP:0000520	Proptosis
OMIM:271640	B3GALT6	126792	HP:0001647	Bicuspid aortic valve
OMIM:271640	B3GALT6	126792	HP:0040199	Flat midface
OMIM:271640	B3GALT6	126792	HP:0100569	Abnormal vertebral ossification
OMIM:271640	B3GALT6	126792	HP:0001156	Brachydactyly syndrome
OMIM:271640	B3GALT6	126792	HP:0002251	Aganglionic megacolon
OMIM:271640	B3GALT6	126792	HP:0011220	Prominent forehead
OMIM:271640	B3GALT6	126792	HP:0002650	Scoliosis
OMIM:271640	B3GALT6	126792	HP:0000926	Platyspondyly
OMIM:271640	B3GALT6	126792	HP:0001252	Muscular hypotonia
OMIM:271640	B3GALT6	126792	HP:0009836	Broad distal phalanx of finger
OMIM:271640	B3GALT6	126792	HP:0100543	Cognitive impairment
OMIM:271640	B3GALT6	126792	HP:0001629	Ventricular septal defect
OMIM:271640	B3GALT6	126792	HP:0030043	Hip Subluxation
OMIM:271640	B3GALT6	126792	HP:0002209	Sparse scalp hair
OMIM:271640	B3GALT6	126792	HP:0004233	Advanced ossification of carpal bones
OMIM:271640	B3GALT6	126792	HP:0008818	Large iliac wings
OMIM:271640	B3GALT6	126792	HP:0010049	Short metacarpal
OMIM:271640	B3GALT6	126792	HP:0000347	Micrognathia
OMIM:271640	B3GALT6	126792	HP:0001653	Mitral regurgitation
OMIM:271640	B3GALT6	126792	HP:0009702	Carpal synostosis
OMIM:271640	B3GALT6	126792	HP:0003100	Slender long bone
OMIM:271640	B3GALT6	126792	HP:0000007	Autosomal recessive inheritance
OMIM:271640	B3GALT6	126792	HP:0000887	Cupped ribs
OMIM:271640	B3GALT6	126792	HP:0003300	Ovoid vertebral bodies
OMIM:271640	B3GALT6	126792	HP:0010550	Paraplegia
OMIM:271640	B3GALT6	126792	HP:0001388	Joint laxity
OMIM:271640	B3GALT6	126792	HP:0000939	Osteoporosis
OMIM:271640	B3GALT6	126792	HP:0001762	Talipes equinovarus
OMIM:271640	B3GALT6	126792	HP:0003048	Radial head subluxation
OMIM:271640	B3GALT6	126792	HP:0003307	Hyperlordosis
OMIM:271640	B3GALT6	126792	HP:0000904	Flaring of rib cage
OMIM:271640	B3GALT6	126792	HP:0001799	Short nail
OMIM:271640	B3GALT6	126792	HP:0001883	Talipes
OMIM:271640	B3GALT6	126792	HP:0000175	Cleft palate
OMIM:271640	B3GALT6	126792	HP:0001840	Metatarsus adductus
OMIM:271640	B3GALT6	126792	HP:0000272	Malar flattening
OMIM:271640	B3GALT6	126792	HP:0001030	Fragile skin
OMIM:271640	B3GALT6	126792	HP:0001831	Short toe
OMIM:271640	B3GALT6	126792	HP:0002983	Micromelia
OMIM:271640	B3GALT6	126792	HP:0002756	Pathologic fracture
OMIM:271640	B3GALT6	126792	HP:0000545	Myopia
OMIM:271640	B3GALT6	126792	HP:0003301	Irregular vertebral endplates
OMIM:271640	B3GALT6	126792	HP:0002808	Kyphosis
OMIM:271640	B3GALT6	126792	HP:0011341	Long upper lip
OMIM:271640	B3GALT6	126792	HP:0001822	Hallux valgus
OMIM:271640	B3GALT6	126792	HP:0004325	Decreased body weight
OMIM:271640	B3GALT6	126792	HP:0002827	Hip dislocation
OMIM:271640	B3GALT6	126792	HP:0002176	Spinal cord compression
OMIM:255310	HACD1	9200	HP:0010628	Facial palsy
OMIM:255310	HACD1	9200	HP:0000218	High palate
OMIM:255310	HACD1	9200	HP:0002938	Lumbar hyperlordosis
OMIM:255310	HACD1	9200	HP:0001644	Dilated cardiomyopathy
OMIM:255310	HACD1	9200	HP:0003828	Variable expressivity
OMIM:255310	HACD1	9200	HP:0000275	Narrow face
OMIM:255310	HACD1	9200	HP:0001508	Failure to thrive
OMIM:255310	HACD1	9200	HP:0001374	Congenital hip dislocation
OMIM:255310	HACD1	9200	HP:0000508	Ptosis
OMIM:255310	HACD1	9200	HP:0001425	Heterogeneous
OMIM:255310	HACD1	9200	HP:0002093	Respiratory insufficiency
OMIM:255310	HACD1	9200	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	HACD1	9200	HP:0000276	Long face
OMIM:255310	HACD1	9200	HP:0003121	Limb joint contracture
OMIM:255310	HACD1	9200	HP:0003324	Generalized muscle weakness
OMIM:255310	HACD1	9200	HP:0003701	Proximal muscle weakness
OMIM:255310	HACD1	9200	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	HACD1	9200	HP:0002650	Scoliosis
OMIM:255310	HACD1	9200	HP:0001283	Bulbar palsy
OMIM:255310	HACD1	9200	HP:0003577	Congenital onset
OMIM:255310	HACD1	9200	HP:0011968	Feeding difficulties
OMIM:255310	HACD1	9200	HP:0000006	Autosomal dominant inheritance
OMIM:255310	HACD1	9200	HP:0002015	Dysphagia
OMIM:255310	HACD1	9200	HP:0001319	Neonatal hypotonia
OMIM:255310	HACD1	9200	HP:0001558	Decreased fetal movement
OMIM:255310	HACD1	9200	HP:0000602	Ophthalmoplegia
OMIM:255310	TPM2	7169	HP:0010628	Facial palsy
OMIM:255310	TPM2	7169	HP:0000218	High palate
OMIM:255310	TPM2	7169	HP:0002938	Lumbar hyperlordosis
OMIM:255310	TPM2	7169	HP:0001644	Dilated cardiomyopathy
OMIM:255310	TPM2	7169	HP:0003828	Variable expressivity
OMIM:255310	TPM2	7169	HP:0000275	Narrow face
OMIM:255310	TPM2	7169	HP:0001508	Failure to thrive
OMIM:255310	TPM2	7169	HP:0001374	Congenital hip dislocation
OMIM:255310	TPM2	7169	HP:0000508	Ptosis
OMIM:255310	TPM2	7169	HP:0001425	Heterogeneous
OMIM:255310	TPM2	7169	HP:0002093	Respiratory insufficiency
OMIM:255310	TPM2	7169	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	TPM2	7169	HP:0000276	Long face
OMIM:255310	TPM2	7169	HP:0003121	Limb joint contracture
OMIM:255310	TPM2	7169	HP:0003324	Generalized muscle weakness
OMIM:255310	TPM2	7169	HP:0003701	Proximal muscle weakness
OMIM:255310	TPM2	7169	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	TPM2	7169	HP:0002650	Scoliosis
OMIM:255310	TPM2	7169	HP:0001283	Bulbar palsy
OMIM:255310	TPM2	7169	HP:0003577	Congenital onset
OMIM:255310	TPM2	7169	HP:0011968	Feeding difficulties
OMIM:255310	TPM2	7169	HP:0000006	Autosomal dominant inheritance
OMIM:255310	TPM2	7169	HP:0002015	Dysphagia
OMIM:255310	TPM2	7169	HP:0001319	Neonatal hypotonia
OMIM:255310	TPM2	7169	HP:0001558	Decreased fetal movement
OMIM:255310	TPM2	7169	HP:0000602	Ophthalmoplegia
OMIM:255310	TPM3	7170	HP:0010628	Facial palsy
OMIM:255310	TPM3	7170	HP:0000218	High palate
OMIM:255310	TPM3	7170	HP:0002938	Lumbar hyperlordosis
OMIM:255310	TPM3	7170	HP:0001644	Dilated cardiomyopathy
OMIM:255310	TPM3	7170	HP:0003828	Variable expressivity
OMIM:255310	TPM3	7170	HP:0000275	Narrow face
OMIM:255310	TPM3	7170	HP:0001508	Failure to thrive
OMIM:255310	TPM3	7170	HP:0001374	Congenital hip dislocation
OMIM:255310	TPM3	7170	HP:0000508	Ptosis
OMIM:255310	TPM3	7170	HP:0001425	Heterogeneous
OMIM:255310	TPM3	7170	HP:0002093	Respiratory insufficiency
OMIM:255310	TPM3	7170	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	TPM3	7170	HP:0000276	Long face
OMIM:255310	TPM3	7170	HP:0003121	Limb joint contracture
OMIM:255310	TPM3	7170	HP:0003324	Generalized muscle weakness
OMIM:255310	TPM3	7170	HP:0003701	Proximal muscle weakness
OMIM:255310	TPM3	7170	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	TPM3	7170	HP:0002650	Scoliosis
OMIM:255310	TPM3	7170	HP:0001283	Bulbar palsy
OMIM:255310	TPM3	7170	HP:0003577	Congenital onset
OMIM:255310	TPM3	7170	HP:0011968	Feeding difficulties
OMIM:255310	TPM3	7170	HP:0000006	Autosomal dominant inheritance
OMIM:255310	TPM3	7170	HP:0002015	Dysphagia
OMIM:255310	TPM3	7170	HP:0001319	Neonatal hypotonia
OMIM:255310	TPM3	7170	HP:0001558	Decreased fetal movement
OMIM:255310	TPM3	7170	HP:0000602	Ophthalmoplegia
OMIM:255310	SEPN1	57190	HP:0010628	Facial palsy
OMIM:255310	SEPN1	57190	HP:0000218	High palate
OMIM:255310	SEPN1	57190	HP:0002938	Lumbar hyperlordosis
OMIM:255310	SEPN1	57190	HP:0001644	Dilated cardiomyopathy
OMIM:255310	SEPN1	57190	HP:0003828	Variable expressivity
OMIM:255310	SEPN1	57190	HP:0000275	Narrow face
OMIM:255310	SEPN1	57190	HP:0001508	Failure to thrive
OMIM:255310	SEPN1	57190	HP:0001374	Congenital hip dislocation
OMIM:255310	SEPN1	57190	HP:0000508	Ptosis
OMIM:255310	SEPN1	57190	HP:0001425	Heterogeneous
OMIM:255310	SEPN1	57190	HP:0002093	Respiratory insufficiency
OMIM:255310	SEPN1	57190	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	SEPN1	57190	HP:0000276	Long face
OMIM:255310	SEPN1	57190	HP:0003121	Limb joint contracture
OMIM:255310	SEPN1	57190	HP:0003324	Generalized muscle weakness
OMIM:255310	SEPN1	57190	HP:0003701	Proximal muscle weakness
OMIM:255310	SEPN1	57190	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	SEPN1	57190	HP:0002650	Scoliosis
OMIM:255310	SEPN1	57190	HP:0001283	Bulbar palsy
OMIM:255310	SEPN1	57190	HP:0003577	Congenital onset
OMIM:255310	SEPN1	57190	HP:0011968	Feeding difficulties
OMIM:255310	SEPN1	57190	HP:0000006	Autosomal dominant inheritance
OMIM:255310	SEPN1	57190	HP:0002015	Dysphagia
OMIM:255310	SEPN1	57190	HP:0001319	Neonatal hypotonia
OMIM:255310	SEPN1	57190	HP:0001558	Decreased fetal movement
OMIM:255310	SEPN1	57190	HP:0000602	Ophthalmoplegia
OMIM:255310	MYL2	4633	HP:0010628	Facial palsy
OMIM:255310	MYL2	4633	HP:0000218	High palate
OMIM:255310	MYL2	4633	HP:0002938	Lumbar hyperlordosis
OMIM:255310	MYL2	4633	HP:0001644	Dilated cardiomyopathy
OMIM:255310	MYL2	4633	HP:0003828	Variable expressivity
OMIM:255310	MYL2	4633	HP:0000275	Narrow face
OMIM:255310	MYL2	4633	HP:0001508	Failure to thrive
OMIM:255310	MYL2	4633	HP:0001374	Congenital hip dislocation
OMIM:255310	MYL2	4633	HP:0000508	Ptosis
OMIM:255310	MYL2	4633	HP:0001425	Heterogeneous
OMIM:255310	MYL2	4633	HP:0002093	Respiratory insufficiency
OMIM:255310	MYL2	4633	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	MYL2	4633	HP:0000276	Long face
OMIM:255310	MYL2	4633	HP:0003121	Limb joint contracture
OMIM:255310	MYL2	4633	HP:0003324	Generalized muscle weakness
OMIM:255310	MYL2	4633	HP:0003701	Proximal muscle weakness
OMIM:255310	MYL2	4633	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	MYL2	4633	HP:0002650	Scoliosis
OMIM:255310	MYL2	4633	HP:0001283	Bulbar palsy
OMIM:255310	MYL2	4633	HP:0003577	Congenital onset
OMIM:255310	MYL2	4633	HP:0011968	Feeding difficulties
OMIM:255310	MYL2	4633	HP:0000006	Autosomal dominant inheritance
OMIM:255310	MYL2	4633	HP:0002015	Dysphagia
OMIM:255310	MYL2	4633	HP:0001319	Neonatal hypotonia
OMIM:255310	MYL2	4633	HP:0001558	Decreased fetal movement
OMIM:255310	MYL2	4633	HP:0000602	Ophthalmoplegia
OMIM:255310	ACTA1	58	HP:0010628	Facial palsy
OMIM:255310	ACTA1	58	HP:0000218	High palate
OMIM:255310	ACTA1	58	HP:0002938	Lumbar hyperlordosis
OMIM:255310	ACTA1	58	HP:0001644	Dilated cardiomyopathy
OMIM:255310	ACTA1	58	HP:0003828	Variable expressivity
OMIM:255310	ACTA1	58	HP:0000275	Narrow face
OMIM:255310	ACTA1	58	HP:0001508	Failure to thrive
OMIM:255310	ACTA1	58	HP:0001374	Congenital hip dislocation
OMIM:255310	ACTA1	58	HP:0000508	Ptosis
OMIM:255310	ACTA1	58	HP:0001425	Heterogeneous
OMIM:255310	ACTA1	58	HP:0002093	Respiratory insufficiency
OMIM:255310	ACTA1	58	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	ACTA1	58	HP:0000276	Long face
OMIM:255310	ACTA1	58	HP:0003121	Limb joint contracture
OMIM:255310	ACTA1	58	HP:0003324	Generalized muscle weakness
OMIM:255310	ACTA1	58	HP:0003701	Proximal muscle weakness
OMIM:255310	ACTA1	58	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	ACTA1	58	HP:0002650	Scoliosis
OMIM:255310	ACTA1	58	HP:0001283	Bulbar palsy
OMIM:255310	ACTA1	58	HP:0003577	Congenital onset
OMIM:255310	ACTA1	58	HP:0011968	Feeding difficulties
OMIM:255310	ACTA1	58	HP:0000006	Autosomal dominant inheritance
OMIM:255310	ACTA1	58	HP:0002015	Dysphagia
OMIM:255310	ACTA1	58	HP:0001319	Neonatal hypotonia
OMIM:255310	ACTA1	58	HP:0001558	Decreased fetal movement
OMIM:255310	ACTA1	58	HP:0000602	Ophthalmoplegia
OMIM:255310	ITGA7	3679	HP:0010628	Facial palsy
OMIM:255310	ITGA7	3679	HP:0000218	High palate
OMIM:255310	ITGA7	3679	HP:0002938	Lumbar hyperlordosis
OMIM:255310	ITGA7	3679	HP:0001644	Dilated cardiomyopathy
OMIM:255310	ITGA7	3679	HP:0003828	Variable expressivity
OMIM:255310	ITGA7	3679	HP:0000275	Narrow face
OMIM:255310	ITGA7	3679	HP:0001508	Failure to thrive
OMIM:255310	ITGA7	3679	HP:0001374	Congenital hip dislocation
OMIM:255310	ITGA7	3679	HP:0000508	Ptosis
OMIM:255310	ITGA7	3679	HP:0001425	Heterogeneous
OMIM:255310	ITGA7	3679	HP:0002093	Respiratory insufficiency
OMIM:255310	ITGA7	3679	HP:0003687	Centrally nucleated skeletal muscle fibers
OMIM:255310	ITGA7	3679	HP:0000276	Long face
OMIM:255310	ITGA7	3679	HP:0003121	Limb joint contracture
OMIM:255310	ITGA7	3679	HP:0003324	Generalized muscle weakness
OMIM:255310	ITGA7	3679	HP:0003701	Proximal muscle weakness
OMIM:255310	ITGA7	3679	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:255310	ITGA7	3679	HP:0002650	Scoliosis
OMIM:255310	ITGA7	3679	HP:0001283	Bulbar palsy
OMIM:255310	ITGA7	3679	HP:0003577	Congenital onset
OMIM:255310	ITGA7	3679	HP:0011968	Feeding difficulties
OMIM:255310	ITGA7	3679	HP:0000006	Autosomal dominant inheritance
OMIM:255310	ITGA7	3679	HP:0002015	Dysphagia
OMIM:255310	ITGA7	3679	HP:0001319	Neonatal hypotonia
OMIM:255310	ITGA7	3679	HP:0001558	Decreased fetal movement
OMIM:255310	ITGA7	3679	HP:0000602	Ophthalmoplegia
OMIM:272430	CLCF1	23529	HP:0008872	Feeding difficulties in infancy
OMIM:272430	CLCF1	23529	HP:0001182	Tapered finger
OMIM:272430	CLCF1	23529	HP:0002179	Opisthotonus
OMIM:272430	CLCF1	23529	HP:0000007	Autosomal recessive inheritance
OMIM:272430	CLCF1	23529	HP:0000975	Hyperhidrosis
OMIM:272430	CLCF1	23529	HP:0001181	Adducted thumb
OMIM:272430	CLCF1	23529	HP:0000278	Retrognathia
OMIM:272430	CLCF1	23529	HP:0000293	Full cheeks
OMIM:272430	CLCF1	23529	HP:0000343	Long philtrum
OMIM:272430	CLCF1	23529	HP:0000347	Micrognathia
OMIM:272430	CLCF1	23529	HP:0010628	Facial palsy
OMIM:272430	CLCF1	23529	HP:0004279	Short palm
OMIM:272430	CLCF1	23529	HP:0000670	Carious teeth
OMIM:272430	CLCF1	23529	HP:0002751	Kyphoscoliosis
OMIM:272430	CLCF1	23529	HP:0000369	Low-set ears
OMIM:272430	CLCF1	23529	HP:0000160	Narrow mouth
OMIM:272430	CLCF1	23529	HP:0001762	Talipes equinovarus
OMIM:272430	CLCF1	23529	HP:0001249	Intellectual disability
OMIM:272430	CLCF1	23529	HP:0002987	Elbow flexion contracture
OMIM:272430	CLCF1	23529	HP:0000445	Wide nose
OMIM:272430	CLCF1	23529	HP:0000463	Anteverted nares
OMIM:272430	CLCF1	23529	HP:0002094	Dyspnea
OMIM:272430	CLCF1	23529	HP:0005280	Depressed nasal bridge
OMIM:272430	CLCF1	23529	HP:0100729	Large face
OMIM:272430	CLCF1	23529	HP:0001763	Pes planus
OMIM:272430	CLCF1	23529	HP:0001611	Nasal speech
OMIM:272430	CLCF1	23529	HP:0001250	Seizures
OMIM:272430	CLCF1	23529	HP:0009466	Radial deviation of finger
OMIM:272430	CLCF1	23529	HP:0000218	High palate
OMIM:272430	CLCF1	23529	HP:0012385	Camptodactyly
OMIM:272430	CLCF1	23529	HP:0000470	Short neck
OMIM:272430	CRLF1	9244	HP:0008872	Feeding difficulties in infancy
OMIM:272430	CRLF1	9244	HP:0001182	Tapered finger
OMIM:272430	CRLF1	9244	HP:0002179	Opisthotonus
OMIM:272430	CRLF1	9244	HP:0000007	Autosomal recessive inheritance
OMIM:272430	CRLF1	9244	HP:0000975	Hyperhidrosis
OMIM:272430	CRLF1	9244	HP:0001181	Adducted thumb
OMIM:272430	CRLF1	9244	HP:0000278	Retrognathia
OMIM:272430	CRLF1	9244	HP:0000293	Full cheeks
OMIM:272430	CRLF1	9244	HP:0000343	Long philtrum
OMIM:272430	CRLF1	9244	HP:0000347	Micrognathia
OMIM:272430	CRLF1	9244	HP:0010628	Facial palsy
OMIM:272430	CRLF1	9244	HP:0004279	Short palm
OMIM:272430	CRLF1	9244	HP:0000670	Carious teeth
OMIM:272430	CRLF1	9244	HP:0002751	Kyphoscoliosis
OMIM:272430	CRLF1	9244	HP:0000369	Low-set ears
OMIM:272430	CRLF1	9244	HP:0000160	Narrow mouth
OMIM:272430	CRLF1	9244	HP:0001762	Talipes equinovarus
OMIM:272430	CRLF1	9244	HP:0001249	Intellectual disability
OMIM:272430	CRLF1	9244	HP:0002987	Elbow flexion contracture
OMIM:272430	CRLF1	9244	HP:0000445	Wide nose
OMIM:272430	CRLF1	9244	HP:0000463	Anteverted nares
OMIM:272430	CRLF1	9244	HP:0002094	Dyspnea
OMIM:272430	CRLF1	9244	HP:0005280	Depressed nasal bridge
OMIM:272430	CRLF1	9244	HP:0100729	Large face
OMIM:272430	CRLF1	9244	HP:0001763	Pes planus
OMIM:272430	CRLF1	9244	HP:0001611	Nasal speech
OMIM:272430	CRLF1	9244	HP:0001250	Seizures
OMIM:272430	CRLF1	9244	HP:0009466	Radial deviation of finger
OMIM:272430	CRLF1	9244	HP:0000218	High palate
OMIM:272430	CRLF1	9244	HP:0012385	Camptodactyly
OMIM:272430	CRLF1	9244	HP:0000470	Short neck
OMIM:312920	PLP1	5354	HP:0002313	Spastic paraparesis
OMIM:312920	PLP1	5354	HP:0002204	Pulmonary embolism
OMIM:312920	PLP1	5354	HP:0003621	Juvenile onset
OMIM:312920	PLP1	5354	HP:0001419	X-linked recessive inheritance
OMIM:312920	PLP1	5354	HP:0000648	Optic atrophy
OMIM:312920	PLP1	5354	HP:0001761	Pes cavus
OMIM:312920	PLP1	5354	HP:0000639	Nystagmus
OMIM:312920	PLP1	5354	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:312920	PLP1	5354	HP:0001258	Spastic paraplegia
OMIM:312920	PLP1	5354	HP:0002061	Lower limb spasticity
OMIM:312920	PLP1	5354	HP:0001376	Limitation of joint mobility
OMIM:312920	PLP1	5354	HP:0001347	Hyperreflexia
OMIM:312920	PLP1	5354	HP:0001310	Dysmetria
OMIM:312920	PLP1	5354	HP:0001371	Flexion contracture
OMIM:312920	PLP1	5354	HP:0001288	Gait disturbance
OMIM:312920	PLP1	5354	HP:0002607	Bowel incontinence
OMIM:312920	PLP1	5354	HP:0002205	Recurrent respiratory infections
OMIM:312920	PLP1	5354	HP:0001260	Dysarthria
OMIM:312920	PLP1	5354	HP:0002311	Incoordination
OMIM:312920	PLP1	5354	HP:0003487	Babinski sign
OMIM:312920	PLP1	5354	HP:0007340	Lower limb muscle weakness
OMIM:312920	PLP1	5354	HP:0002064	Spastic gait
OMIM:312920	PLP1	5354	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:312920	PLP1	5354	HP:0003812	Phenotypic variability
OMIM:312920	PLP1	5354	HP:0001324	Muscle weakness
OMIM:312920	PLP1	5354	HP:0012211	Abnormal renal physiology
OMIM:312920	PLP1	5354	HP:0100543	Cognitive impairment
OMIM:312920	PLP1	5354	HP:0003202	Skeletal muscle atrophy
OMIM:312920	PLP1	5354	HP:0002167	Neurological speech impairment
OMIM:312920	PLP1	5354	HP:0001249	Intellectual disability
OMIM:601363	POU6F2	11281	HP:0000006	Autosomal dominant inheritance
OMIM:601363	POU6F2	11281	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:601363	WT1	7490	HP:0000006	Autosomal dominant inheritance
OMIM:601363	WT1	7490	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:601363	H19	283120	HP:0000006	Autosomal dominant inheritance
OMIM:601363	H19	283120	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:601363	DIS3L2	129563	HP:0000006	Autosomal dominant inheritance
OMIM:601363	DIS3L2	129563	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:605822	XYLT2	64132	HP:0100543	Cognitive impairment
OMIM:605822	XYLT2	64132	HP:0000505	Visual impairment
OMIM:605822	XYLT2	64132	HP:0000974	Hyperextensible skin
OMIM:605822	XYLT2	64132	HP:0010511	Long toe
OMIM:605822	XYLT2	64132	HP:0000316	Hypertelorism
OMIM:605822	XYLT2	64132	HP:0001763	Pes planus
OMIM:605822	XYLT2	64132	HP:0000465	Webbed neck
OMIM:605822	XYLT2	64132	HP:0004325	Decreased body weight
OMIM:605822	XYLT2	64132	HP:0010306	Short thorax
OMIM:605822	XYLT2	64132	HP:0000407	Sensorineural hearing impairment
OMIM:605822	XYLT2	64132	HP:0002162	Low posterior hairline
OMIM:605822	XYLT2	64132	HP:0000518	Cataract
OMIM:605822	XYLT2	64132	HP:0000383	Abnormality of periauricular region
OMIM:605822	XYLT2	64132	HP:0000914	Shield chest
OMIM:605822	XYLT2	64132	HP:0001631	Atria septal defect
OMIM:605822	XYLT2	64132	HP:0002808	Kyphosis
OMIM:605822	XYLT2	64132	HP:0100807	Long fingers
OMIM:605822	XYLT2	64132	HP:0000470	Short neck
OMIM:605822	XYLT2	64132	HP:0008063	Aplasia/Hypoplasia of the lens
OMIM:605822	XYLT2	64132	HP:0000938	Osteopenia
OMIM:605822	XYLT2	64132	HP:0001382	Joint hypermobility
OMIM:605822	XYLT2	64132	HP:0005108	Abnormality of the intervertebral disk
OMIM:605822	XYLT2	64132	HP:0000358	Posteriorly rotated ears
OMIM:605822	XYLT2	64132	HP:0000545	Myopia
OMIM:605822	XYLT2	64132	HP:0000646	Amblyopia
OMIM:605822	XYLT2	64132	HP:0001629	Ventricular septal defect
OMIM:605822	XYLT2	64132	HP:0000233	Thin vermilion border
OMIM:605822	XYLT2	64132	HP:0000639	Nystagmus
OMIM:605822	XYLT2	64132	HP:0000368	Low-set, posteriorly rotated ears
OMIM:605822	XYLT2	64132	HP:0000926	Platyspondyly
OMIM:605822	XYLT2	64132	HP:0001252	Muscular hypotonia
OMIM:605822	XYLT2	64132	HP:0004322	Short stature
OMIM:605822	XYLT2	64132	HP:0000541	Retinal detachment
OMIM:605822	XYLT2	64132	HP:0001324	Muscle weakness
OMIM:605822	XYLT2	64132	HP:0000534	Abnormality of the eyebrow
OMIM:605822	XYLT2	64132	HP:0000343	Long philtrum
OMIM:605822	XYLT2	64132	HP:0001634	Mitral valve prolapse
OMIM:605822	XYLT2	64132	HP:0009738	Abnormality of the antihelix
OMIM:605822	XYLT2	64132	HP:0004349	Reduced bone mineral density
OMIM:605822	XYLT2	64132	HP:0000369	Low-set ears
OMIM:605822	XYLT2	64132	HP:0000391	Thickened helices
OMIM:605822	XYLT2	64132	HP:0007703	Abnormality of retinal pigmentation
OMIM:300373	AMER1	139285	HP:0004322	Short stature
OMIM:300373	AMER1	139285	HP:0000218	High palate
OMIM:300373	AMER1	139285	HP:0000750	Delayed speech and language development
OMIM:300373	AMER1	139285	HP:0000678	Dental crowding
OMIM:300373	AMER1	139285	HP:0000316	Hypertelorism
OMIM:300373	AMER1	139285	HP:0002167	Neurological speech impairment
OMIM:300373	AMER1	139285	HP:0001166	Arachnodactyly
OMIM:300373	AMER1	139285	HP:0003307	Hyperlordosis
OMIM:300373	AMER1	139285	HP:0000396	Overfolded helix
OMIM:300373	AMER1	139285	HP:0000175	Cleft palate
OMIM:300373	AMER1	139285	HP:0001508	Failure to thrive
OMIM:300373	AMER1	139285	HP:0006610	Wide intermamillary distance
OMIM:300373	AMER1	139285	HP:0004209	Clinodactyly of the 5th finger
OMIM:300373	AMER1	139285	HP:0001256	Intellectual disability, mild
OMIM:300373	AMER1	139285	HP:0000003	Multicystic kidney dysplasia
OMIM:300373	AMER1	139285	HP:0002315	Headache
OMIM:300373	AMER1	139285	HP:0000368	Low-set, posteriorly rotated ears
OMIM:300373	AMER1	139285	HP:0001762	Talipes equinovarus
OMIM:300373	AMER1	139285	HP:0002650	Scoliosis
OMIM:300373	AMER1	139285	HP:0008551	Microtia
OMIM:300373	AMER1	139285	HP:0003298	Spina bifida occulta
OMIM:300373	AMER1	139285	HP:0000431	Wide nasal bridge
OMIM:300373	AMER1	139285	HP:0001423	X-linked dominant inheritance
OMIM:300373	AMER1	139285	HP:0001555	Asymmetry of the thorax
OMIM:300373	AMER1	139285	HP:0001561	Polyhydramnios
OMIM:300373	AMER1	139285	HP:0000238	Hydrocephalus
OMIM:300373	AMER1	139285	HP:0000193	Bifid uvula
OMIM:300373	AMER1	139285	HP:0002007	Frontal bossing
OMIM:300373	AMER1	139285	HP:0000767	Pectus excavatum
OMIM:300373	AMER1	139285	HP:0000256	Macrocephaly
OMIM:300373	AMER1	139285	HP:0001679	Abnormality of the aorta
OMIM:300373	AMER1	139285	HP:0002779	Tracheomalacia
OMIM:300373	AMER1	139285	HP:0000204	Cleft upper lip
OMIM:300373	AMER1	139285	HP:0001338	Partial agenesis of the corpus callosum
OMIM:300373	AMER1	139285	HP:0000201	Pierre-Robin sequence
OMIM:300373	AMER1	139285	HP:0001252	Muscular hypotonia
OMIM:300373	AMER1	139285	HP:0001631	Atria septal defect
OMIM:300373	AMER1	139285	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:300373	AMER1	139285	HP:0000405	Conductive hearing impairment
OMIM:300373	AMER1	139285	HP:0010628	Facial palsy
OMIM:300373	AMER1	139285	HP:0000272	Malar flattening
OMIM:300373	AMER1	139285	HP:0000465	Webbed neck
OMIM:300373	AMER1	139285	HP:0002020	Gastroesophageal reflux
OMIM:300373	AMER1	139285	HP:0000347	Micrognathia
OMIM:300373	AMER1	139285	HP:0000239	Large fontanelles
OMIM:300373	AMER1	139285	HP:0000518	Cataract
OMIM:300373	AMER1	139285	HP:0009473	Joint contracture of the hand
OMIM:300373	AMER1	139285	HP:0001629	Ventricular septal defect
OMIM:300373	AMER1	139285	HP:0001250	Seizures
OMIM:300373	AMER1	139285	HP:0000179	Thick lower lip vermilion
OMIM:300373	AMER1	139285	HP:0000695	Natal tooth
OMIM:300373	AMER1	139285	HP:0001643	Patent ductus arteriosus
OMIM:300373	AMER1	139285	HP:0002514	Cerebral calcification
OMIM:300373	AMER1	139285	HP:0002104	Apnea
OMIM:300373	AMER1	139285	HP:0001539	Omphalocele
OMIM:300373	AMER1	139285	HP:0000341	Narrow forehead
OMIM:300373	AMER1	139285	HP:0001562	Oligohydramnios
OMIM:300373	AMER1	139285	HP:0002025	Anal stenosis
OMIM:300373	AMER1	139285	HP:0100543	Cognitive impairment
OMIM:300373	AMER1	139285	HP:0003038	Fibular hypoplasia
OMIM:300373	AMER1	139285	HP:0000286	Epicanthus
OMIM:300373	AMER1	139285	HP:0002566	Intestinal malrotation
OMIM:300373	AMER1	139285	HP:0002684	Thickened calvaria
OMIM:300373	AMER1	139285	HP:0012385	Camptodactyly
OMIM:300373	AMER1	139285	HP:0000689	Dental malocclusion
OMIM:300373	AMER1	139285	HP:0002023	Anal atresia
OMIM:300373	AMER1	139285	HP:0004493	Craniofacial hyperostosis
OMIM:300373	AMER1	139285	HP:0000684	Delayed eruption of teeth
OMIM:300373	AMER1	139285	HP:0001611	Nasal speech
OMIM:156530	TRPV4	59341	HP:0004209	Clinodactyly of the 5th finger
OMIM:156530	TRPV4	59341	HP:0009381	Short finger
OMIM:156530	TRPV4	59341	HP:0005280	Depressed nasal bridge
OMIM:156530	TRPV4	59341	HP:0002650	Scoliosis
OMIM:156530	TRPV4	59341	HP:0100490	Camptodactyly of finger
OMIM:156530	TRPV4	59341	HP:0000348	High forehead
OMIM:156530	TRPV4	59341	HP:0002878	Respiratory failure
OMIM:156530	TRPV4	59341	HP:0001156	Brachydactyly syndrome
OMIM:156530	TRPV4	59341	HP:0000926	Platyspondyly
OMIM:156530	TRPV4	59341	HP:0003477	Peripheral axonal neuropathy
OMIM:156530	TRPV4	59341	HP:0000774	Narrow chest
OMIM:156530	TRPV4	59341	HP:0002983	Micromelia
OMIM:156530	TRPV4	59341	HP:0003336	Abnormal enchondral ossification
OMIM:156530	TRPV4	59341	HP:0000772	Abnormality of the ribs
OMIM:156530	TRPV4	59341	HP:0001376	Limitation of joint mobility
OMIM:156530	TRPV4	59341	HP:0000518	Cataract
OMIM:156530	TRPV4	59341	HP:0005108	Abnormality of the intervertebral disk
OMIM:156530	TRPV4	59341	HP:0000175	Cleft palate
OMIM:156530	TRPV4	59341	HP:0000238	Hydrocephalus
OMIM:156530	TRPV4	59341	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:156530	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:156530	TRPV4	59341	HP:0004348	Abnormality of bone mineral density
OMIM:156530	TRPV4	59341	HP:0003103	Abnormal cortical bone morphology
OMIM:156530	TRPV4	59341	HP:0000368	Low-set, posteriorly rotated ears
OMIM:156530	TRPV4	59341	HP:0002808	Kyphosis
OMIM:156530	TRPV4	59341	HP:0003510	Severe short stature
OMIM:300934	SSR4	6748	HP:0000347	Micrognathia
OMIM:300934	SSR4	6748	HP:0001252	Muscular hypotonia
OMIM:300934	SSR4	6748	HP:0001250	Seizures
OMIM:300934	SSR4	6748	HP:0001263	Global developmental delay
OMIM:300934	SSR4	6748	HP:0030084	Clinodactyly
OMIM:300934	SSR4	6748	HP:0000047	Hypospadias
OMIM:300934	SSR4	6748	HP:0000252	Microcephaly
OMIM:312090	SLC10A3	8273	HP:0001417	X-linked inheritance
OMIM:251120	MCEE	84693	HP:0002919	Ketonuria
OMIM:251120	MCEE	84693	HP:0002912	Methylmalonic acidemia
OMIM:251120	MCEE	84693	HP:0001508	Failure to thrive
OMIM:251120	MCEE	84693	HP:0001942	Metabolic acidosis
OMIM:251120	MCEE	84693	HP:0000007	Autosomal recessive inheritance
OMIM:251120	MCEE	84693	HP:0001944	Dehydration
OMIM:251120	MCEE	84693	HP:0002020	Gastroesophageal reflux
OMIM:251120	MCEE	84693	HP:0012120	Methylmalonic aciduria
OMIM:616428	VSX2	338917	HP:0000612	Iris coloboma
OMIM:616428	VSX2	338917	HP:0000568	Microphthalmia
OMIM:616428	VSX2	338917	HP:0000567	Chorioretinal coloboma
OMIM:616428	TENM3	55714	HP:0000612	Iris coloboma
OMIM:616428	TENM3	55714	HP:0000568	Microphthalmia
OMIM:616428	TENM3	55714	HP:0000567	Chorioretinal coloboma
OMIM:616428	SHH	6469	HP:0000612	Iris coloboma
OMIM:616428	SHH	6469	HP:0000568	Microphthalmia
OMIM:616428	SHH	6469	HP:0000567	Chorioretinal coloboma
OMIM:616428	GDF3	9573	HP:0000612	Iris coloboma
OMIM:616428	GDF3	9573	HP:0000568	Microphthalmia
OMIM:616428	GDF3	9573	HP:0000567	Chorioretinal coloboma
OMIM:616428	GDF6	392255	HP:0000612	Iris coloboma
OMIM:616428	GDF6	392255	HP:0000568	Microphthalmia
OMIM:616428	GDF6	392255	HP:0000567	Chorioretinal coloboma
OMIM:616428	ABCB6	10058	HP:0000612	Iris coloboma
OMIM:616428	ABCB6	10058	HP:0000568	Microphthalmia
OMIM:616428	ABCB6	10058	HP:0000567	Chorioretinal coloboma
OMIM:616428	STRA6	64220	HP:0000612	Iris coloboma
OMIM:616428	STRA6	64220	HP:0000568	Microphthalmia
OMIM:616428	STRA6	64220	HP:0000567	Chorioretinal coloboma
OMIM:616428	RBP4	5950	HP:0000612	Iris coloboma
OMIM:616428	RBP4	5950	HP:0000568	Microphthalmia
OMIM:616428	RBP4	5950	HP:0000567	Chorioretinal coloboma
OMIM:600101	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:600101	DIAPH1	1729	HP:0000365	Hearing impairment
OMIM:600101	DIAPH1	1729	HP:0003676	Progressive
OMIM:600101	DIAPH1	1729	HP:0000360	Tinnitus
OMIM:600101	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:600101	CEACAM16	388551	HP:0000365	Hearing impairment
OMIM:600101	CEACAM16	388551	HP:0003676	Progressive
OMIM:600101	CEACAM16	388551	HP:0000360	Tinnitus
OMIM:600101	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:600101	SLC17A8	246213	HP:0000365	Hearing impairment
OMIM:600101	SLC17A8	246213	HP:0003676	Progressive
OMIM:600101	SLC17A8	246213	HP:0000360	Tinnitus
OMIM:600101	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:600101	TJP2	9414	HP:0000365	Hearing impairment
OMIM:600101	TJP2	9414	HP:0003676	Progressive
OMIM:600101	TJP2	9414	HP:0000360	Tinnitus
OMIM:600101	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:600101	ACTG1	71	HP:0000365	Hearing impairment
OMIM:600101	ACTG1	71	HP:0003676	Progressive
OMIM:600101	ACTG1	71	HP:0000360	Tinnitus
OMIM:600101	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:600101	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:600101	CCDC50	152137	HP:0003676	Progressive
OMIM:600101	CCDC50	152137	HP:0000360	Tinnitus
OMIM:600101	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:600101	MIR96	407053	HP:0000365	Hearing impairment
OMIM:600101	MIR96	407053	HP:0003676	Progressive
OMIM:600101	MIR96	407053	HP:0000360	Tinnitus
OMIM:600101	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:600101	GJB2	2706	HP:0000365	Hearing impairment
OMIM:600101	GJB2	2706	HP:0003676	Progressive
OMIM:600101	GJB2	2706	HP:0000360	Tinnitus
OMIM:600101	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:600101	POU4F3	5459	HP:0000365	Hearing impairment
OMIM:600101	POU4F3	5459	HP:0003676	Progressive
OMIM:600101	POU4F3	5459	HP:0000360	Tinnitus
OMIM:600101	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:600101	GJB3	2707	HP:0000365	Hearing impairment
OMIM:600101	GJB3	2707	HP:0003676	Progressive
OMIM:600101	GJB3	2707	HP:0000360	Tinnitus
OMIM:600101	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:600101	MYH9	4627	HP:0000365	Hearing impairment
OMIM:600101	MYH9	4627	HP:0003676	Progressive
OMIM:600101	MYH9	4627	HP:0000360	Tinnitus
OMIM:600101	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:600101	CRYM	1428	HP:0000365	Hearing impairment
OMIM:600101	CRYM	1428	HP:0003676	Progressive
OMIM:600101	CRYM	1428	HP:0000360	Tinnitus
OMIM:600101	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:600101	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:600101	COL11A2	1302	HP:0003676	Progressive
OMIM:600101	COL11A2	1302	HP:0000360	Tinnitus
OMIM:600101	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:600101	EYA4	2070	HP:0000365	Hearing impairment
OMIM:600101	EYA4	2070	HP:0003676	Progressive
OMIM:600101	EYA4	2070	HP:0000360	Tinnitus
OMIM:600101	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:600101	DFNA5	1687	HP:0000365	Hearing impairment
OMIM:600101	DFNA5	1687	HP:0003676	Progressive
OMIM:600101	DFNA5	1687	HP:0000360	Tinnitus
OMIM:600101	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:600101	DIAPH3	81624	HP:0000365	Hearing impairment
OMIM:600101	DIAPH3	81624	HP:0003676	Progressive
OMIM:600101	DIAPH3	81624	HP:0000360	Tinnitus
OMIM:600101	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:600101	TMC1	117531	HP:0000365	Hearing impairment
OMIM:600101	TMC1	117531	HP:0003676	Progressive
OMIM:600101	TMC1	117531	HP:0000360	Tinnitus
OMIM:600101	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:600101	COCH	1690	HP:0000365	Hearing impairment
OMIM:600101	COCH	1690	HP:0003676	Progressive
OMIM:600101	COCH	1690	HP:0000360	Tinnitus
OMIM:600101	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:600101	OSBPL2	9885	HP:0000365	Hearing impairment
OMIM:600101	OSBPL2	9885	HP:0003676	Progressive
OMIM:600101	OSBPL2	9885	HP:0000360	Tinnitus
OMIM:600101	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:600101	SIX1	6495	HP:0000365	Hearing impairment
OMIM:600101	SIX1	6495	HP:0003676	Progressive
OMIM:600101	SIX1	6495	HP:0000360	Tinnitus
OMIM:600101	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:600101	TECTA	7007	HP:0000365	Hearing impairment
OMIM:600101	TECTA	7007	HP:0003676	Progressive
OMIM:600101	TECTA	7007	HP:0000360	Tinnitus
OMIM:600101	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:600101	MYO1A	4640	HP:0000365	Hearing impairment
OMIM:600101	MYO1A	4640	HP:0003676	Progressive
OMIM:600101	MYO1A	4640	HP:0000360	Tinnitus
OMIM:600101	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:600101	MYO1C	4641	HP:0000365	Hearing impairment
OMIM:600101	MYO1C	4641	HP:0003676	Progressive
OMIM:600101	MYO1C	4641	HP:0000360	Tinnitus
OMIM:600101	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:600101	MYO6	4646	HP:0000365	Hearing impairment
OMIM:600101	MYO6	4646	HP:0003676	Progressive
OMIM:600101	MYO6	4646	HP:0000360	Tinnitus
OMIM:600101	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:600101	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:600101	MYO7A	4647	HP:0003676	Progressive
OMIM:600101	MYO7A	4647	HP:0000360	Tinnitus
OMIM:600101	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:600101	GRHL2	79977	HP:0000365	Hearing impairment
OMIM:600101	GRHL2	79977	HP:0003676	Progressive
OMIM:600101	GRHL2	79977	HP:0000360	Tinnitus
OMIM:600101	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:600101	DIABLO	56616	HP:0000365	Hearing impairment
OMIM:600101	DIABLO	56616	HP:0003676	Progressive
OMIM:600101	DIABLO	56616	HP:0000360	Tinnitus
OMIM:600101	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:600101	MYH14	79784	HP:0000365	Hearing impairment
OMIM:600101	MYH14	79784	HP:0003676	Progressive
OMIM:600101	MYH14	79784	HP:0000360	Tinnitus
OMIM:600101	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:600101	P2RX2	22953	HP:0000365	Hearing impairment
OMIM:600101	P2RX2	22953	HP:0003676	Progressive
OMIM:600101	P2RX2	22953	HP:0000360	Tinnitus
OMIM:600101	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:600101	WFS1	7466	HP:0000365	Hearing impairment
OMIM:600101	WFS1	7466	HP:0003676	Progressive
OMIM:600101	WFS1	7466	HP:0000360	Tinnitus
OMIM:600101	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:600101	TNC	3371	HP:0000365	Hearing impairment
OMIM:600101	TNC	3371	HP:0003676	Progressive
OMIM:600101	TNC	3371	HP:0000360	Tinnitus
OMIM:600101	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:600101	KCNQ4	9132	HP:0000365	Hearing impairment
OMIM:600101	KCNQ4	9132	HP:0003676	Progressive
OMIM:600101	KCNQ4	9132	HP:0000360	Tinnitus
OMIM:600101	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:600101	HOMER2	9455	HP:0000365	Hearing impairment
OMIM:600101	HOMER2	9455	HP:0003676	Progressive
OMIM:600101	HOMER2	9455	HP:0000360	Tinnitus
OMIM:600101	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:600101	GJB6	10804	HP:0000365	Hearing impairment
OMIM:600101	GJB6	10804	HP:0003676	Progressive
OMIM:600101	GJB6	10804	HP:0000360	Tinnitus
OMIM:600101	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:600101	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:600101	TBC1D24	57465	HP:0003676	Progressive
OMIM:600101	TBC1D24	57465	HP:0000360	Tinnitus
OMIM:602722	ATP6V0A4	50617	HP:0001508	Failure to thrive
OMIM:602722	ATP6V0A4	50617	HP:0000007	Autosomal recessive inheritance
OMIM:602722	ATP6V0A4	50617	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:602722	ATP6V0A4	50617	HP:0001944	Dehydration
OMIM:602722	ATP6V0A4	50617	HP:0000121	Nephrocalcinosis
OMIM:602722	ATP6V0A4	50617	HP:0002013	Vomiting
OMIM:602722	ATP6V0A4	50617	HP:0001510	Growth delay
OMIM:602722	ATP6V1B1	525	HP:0001508	Failure to thrive
OMIM:602722	ATP6V1B1	525	HP:0000007	Autosomal recessive inheritance
OMIM:602722	ATP6V1B1	525	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:602722	ATP6V1B1	525	HP:0001944	Dehydration
OMIM:602722	ATP6V1B1	525	HP:0000121	Nephrocalcinosis
OMIM:602722	ATP6V1B1	525	HP:0002013	Vomiting
OMIM:602722	ATP6V1B1	525	HP:0001510	Growth delay
OMIM:613611	PTPN14	5784	HP:0000218	High palate
OMIM:613611	PTPN14	5784	HP:0000453	Choanal atresia
OMIM:613611	PTPN14	5784	HP:0000007	Autosomal recessive inheritance
OMIM:605676	DSP	1832	HP:0002224	Woolly hair
OMIM:605676	DSP	1832	HP:0009804	Reduced number of teeth
OMIM:605676	DSP	1832	HP:0001644	Dilated cardiomyopathy
OMIM:605676	DSP	1832	HP:0004756	Ventricular tachycardia
OMIM:605676	DSP	1832	HP:0000006	Autosomal dominant inheritance
OMIM:605676	DSP	1832	HP:0001635	Congestive heart failure
OMIM:605676	DSP	1832	HP:0000982	Palmoplantar keratoderma
OMIM:615767	IL10	3586	HP:0002028	Chronic diarrhea
OMIM:615767	IL10	3586	HP:0002205	Recurrent respiratory infections
OMIM:615767	IL10	3586	HP:0002037	Inflammation of the large intestine
OMIM:615767	IL10	3586	HP:0002721	Immunodeficiency
OMIM:615767	IL10	3586	HP:0004313	Decreased antibody level in blood
OMIM:615767	IL10	3586	HP:0001510	Growth delay
OMIM:615767	IL10	3586	HP:0001508	Failure to thrive
OMIM:615767	IL10RA	3587	HP:0002028	Chronic diarrhea
OMIM:615767	IL10RA	3587	HP:0002205	Recurrent respiratory infections
OMIM:615767	IL10RA	3587	HP:0002037	Inflammation of the large intestine
OMIM:615767	IL10RA	3587	HP:0002721	Immunodeficiency
OMIM:615767	IL10RA	3587	HP:0004313	Decreased antibody level in blood
OMIM:615767	IL10RA	3587	HP:0001510	Growth delay
OMIM:615767	IL10RA	3587	HP:0001508	Failure to thrive
OMIM:615767	IL10RB	3588	HP:0002028	Chronic diarrhea
OMIM:615767	IL10RB	3588	HP:0002205	Recurrent respiratory infections
OMIM:615767	IL10RB	3588	HP:0002037	Inflammation of the large intestine
OMIM:615767	IL10RB	3588	HP:0002721	Immunodeficiency
OMIM:615767	IL10RB	3588	HP:0004313	Decreased antibody level in blood
OMIM:615767	IL10RB	3588	HP:0001510	Growth delay
OMIM:615767	IL10RB	3588	HP:0001508	Failure to thrive
OMIM:615767	IL21	59067	HP:0002028	Chronic diarrhea
OMIM:615767	IL21	59067	HP:0002205	Recurrent respiratory infections
OMIM:615767	IL21	59067	HP:0002037	Inflammation of the large intestine
OMIM:615767	IL21	59067	HP:0002721	Immunodeficiency
OMIM:615767	IL21	59067	HP:0004313	Decreased antibody level in blood
OMIM:615767	IL21	59067	HP:0001510	Growth delay
OMIM:615767	IL21	59067	HP:0001508	Failure to thrive
OMIM:157170	SIX3	6496	HP:0000568	Microphthalmia
OMIM:157170	SIX3	6496	HP:0005273	Absent nasal septal cartilage
OMIM:157170	SIX3	6496	HP:0011800	Hypoplasia of midface
OMIM:157170	SIX3	6496	HP:0000272	Malar flattening
OMIM:157170	SIX3	6496	HP:0000176	Submucous cleft hard palate
OMIM:157170	SIX3	6496	HP:0001263	Global developmental delay
OMIM:157170	SIX3	6496	HP:0010626	Anterior pituitary agenesis
OMIM:157170	SIX3	6496	HP:0000252	Microcephaly
OMIM:157170	SIX3	6496	HP:0000835	Adrenal hypoplasia
OMIM:157170	SIX3	6496	HP:0003829	Incomplete penetrance
OMIM:157170	SIX3	6496	HP:0001252	Muscular hypotonia
OMIM:157170	SIX3	6496	HP:0000006	Autosomal dominant inheritance
OMIM:157170	SIX3	6496	HP:0003828	Variable expressivity
OMIM:157170	SIX3	6496	HP:0008501	Median cleft lip and palate
OMIM:157170	SIX3	6496	HP:0001425	Heterogeneous
OMIM:157170	SIX3	6496	HP:0001321	Cerebellar hypoplasia
OMIM:157170	SIX3	6496	HP:0000601	Hypotelorism
OMIM:157170	SIX3	6496	HP:0001274	Agenesis of corpus callosum
OMIM:157170	SIX3	6496	HP:0009914	Cyclopia
OMIM:157170	SIX3	6496	HP:0000873	Diabetes insipidus
OMIM:157170	SIX3	6496	HP:0001249	Intellectual disability
OMIM:157170	SIX3	6496	HP:0001360	Holoprosencephaly
OMIM:157170	SIX3	6496	HP:0002650	Scoliosis
OMIM:157170	SIX3	6496	HP:0000193	Bifid uvula
OMIM:157170	SIX3	6496	HP:0006315	Single median maxillary incisor
OMIM:157170	SIX3	6496	HP:0001250	Seizures
OMIM:157170	SIX3	6496	HP:0009927	Aplasia of the nose
OMIM:157170	SIX3	6496	HP:0003745	Sporadic
OMIM:157170	SIX3	6496	HP:0002019	Constipation
OMIM:118100	GDF3	9573	HP:0000772	Abnormality of the ribs
OMIM:118100	GDF3	9573	HP:0000465	Webbed neck
OMIM:118100	GDF3	9573	HP:0007291	Posterior fossa cyst
OMIM:118100	GDF3	9573	HP:0002162	Low posterior hairline
OMIM:118100	GDF3	9573	HP:0000122	Unilateral renal agenesis
OMIM:118100	GDF3	9573	HP:0000912	Sprengel anomaly
OMIM:118100	GDF3	9573	HP:0000324	Facial asymmetry
OMIM:118100	GDF3	9573	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:118100	GDF3	9573	HP:0000006	Autosomal dominant inheritance
OMIM:118100	GDF3	9573	HP:0000470	Short neck
OMIM:118100	GDF3	9573	HP:0000175	Cleft palate
OMIM:118100	GDF3	9573	HP:0002650	Scoliosis
OMIM:118100	GDF3	9573	HP:0002813	Abnormality of limb bone morphology
OMIM:118100	GDF6	392255	HP:0000772	Abnormality of the ribs
OMIM:118100	GDF6	392255	HP:0000465	Webbed neck
OMIM:118100	GDF6	392255	HP:0007291	Posterior fossa cyst
OMIM:118100	GDF6	392255	HP:0002162	Low posterior hairline
OMIM:118100	GDF6	392255	HP:0000122	Unilateral renal agenesis
OMIM:118100	GDF6	392255	HP:0000912	Sprengel anomaly
OMIM:118100	GDF6	392255	HP:0000324	Facial asymmetry
OMIM:118100	GDF6	392255	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:118100	GDF6	392255	HP:0000006	Autosomal dominant inheritance
OMIM:118100	GDF6	392255	HP:0000470	Short neck
OMIM:118100	GDF6	392255	HP:0000175	Cleft palate
OMIM:118100	GDF6	392255	HP:0002650	Scoliosis
OMIM:118100	GDF6	392255	HP:0002813	Abnormality of limb bone morphology
OMIM:118100	MEOX1	4222	HP:0000772	Abnormality of the ribs
OMIM:118100	MEOX1	4222	HP:0000465	Webbed neck
OMIM:118100	MEOX1	4222	HP:0007291	Posterior fossa cyst
OMIM:118100	MEOX1	4222	HP:0002162	Low posterior hairline
OMIM:118100	MEOX1	4222	HP:0000122	Unilateral renal agenesis
OMIM:118100	MEOX1	4222	HP:0000912	Sprengel anomaly
OMIM:118100	MEOX1	4222	HP:0000324	Facial asymmetry
OMIM:118100	MEOX1	4222	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:118100	MEOX1	4222	HP:0000006	Autosomal dominant inheritance
OMIM:118100	MEOX1	4222	HP:0000470	Short neck
OMIM:118100	MEOX1	4222	HP:0000175	Cleft palate
OMIM:118100	MEOX1	4222	HP:0002650	Scoliosis
OMIM:118100	MEOX1	4222	HP:0002813	Abnormality of limb bone morphology
OMIM:156830	FGFR3	2261	HP:0002983	Micromelia
ORPHANET:93946	PQBP1	10084	HP:0000252	Microcephaly
ORPHANET:93946	PQBP1	10084	HP:0000347	Micrognathia
ORPHANET:93946	PQBP1	10084	HP:0005105	Abnormal nasal morphology
ORPHANET:93946	PQBP1	10084	HP:0000175	Cleft palate
ORPHANET:93946	PQBP1	10084	HP:0008572	External ear malformation
ORPHANET:93946	PQBP1	10084	HP:0001631	Atria septal defect
ORPHANET:93946	PQBP1	10084	HP:0004322	Short stature
ORPHANET:93946	PQBP1	10084	HP:0100543	Cognitive impairment
ORPHANET:93946	PQBP1	10084	HP:0000160	Narrow mouth
OMIM:615338	SCN1A	6323	HP:0000252	Microcephaly
OMIM:615338	SCN1A	6323	HP:0000648	Optic atrophy
OMIM:615338	SCN1A	6323	HP:0000007	Autosomal recessive inheritance
OMIM:615338	SCN1A	6323	HP:0200134	Epileptic encephalopathy
OMIM:615338	SCN1A	6323	HP:0012448	Delayed myelination
OMIM:615338	SCN1A	6323	HP:0001263	Global developmental delay
OMIM:615338	SCN1A	6323	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615338	SCN1A	6323	HP:0006829	Severe muscular hypotonia
OMIM:615338	SCN1A	6323	HP:0002133	Status epilepticus
OMIM:615338	SCN1A	6323	HP:0003676	Progressive
OMIM:615338	SCN1A	6323	HP:0001332	Dystonia
OMIM:615338	SCN1A	6323	HP:0002376	Developmental regression
OMIM:615338	SCN1A	6323	HP:0000572	Visual loss
OMIM:615338	SCN1A	6323	HP:0001336	Myoclonus
OMIM:615338	PLCB1	23236	HP:0000252	Microcephaly
OMIM:615338	PLCB1	23236	HP:0000648	Optic atrophy
OMIM:615338	PLCB1	23236	HP:0000007	Autosomal recessive inheritance
OMIM:615338	PLCB1	23236	HP:0200134	Epileptic encephalopathy
OMIM:615338	PLCB1	23236	HP:0012448	Delayed myelination
OMIM:615338	PLCB1	23236	HP:0001263	Global developmental delay
OMIM:615338	PLCB1	23236	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615338	PLCB1	23236	HP:0006829	Severe muscular hypotonia
OMIM:615338	PLCB1	23236	HP:0002133	Status epilepticus
OMIM:615338	PLCB1	23236	HP:0003676	Progressive
OMIM:615338	PLCB1	23236	HP:0001332	Dystonia
OMIM:615338	PLCB1	23236	HP:0002376	Developmental regression
OMIM:615338	PLCB1	23236	HP:0000572	Visual loss
OMIM:615338	PLCB1	23236	HP:0001336	Myoclonus
OMIM:615338	SLC25A22	79751	HP:0000252	Microcephaly
OMIM:615338	SLC25A22	79751	HP:0000648	Optic atrophy
OMIM:615338	SLC25A22	79751	HP:0000007	Autosomal recessive inheritance
OMIM:615338	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:615338	SLC25A22	79751	HP:0012448	Delayed myelination
OMIM:615338	SLC25A22	79751	HP:0001263	Global developmental delay
OMIM:615338	SLC25A22	79751	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615338	SLC25A22	79751	HP:0006829	Severe muscular hypotonia
OMIM:615338	SLC25A22	79751	HP:0002133	Status epilepticus
OMIM:615338	SLC25A22	79751	HP:0003676	Progressive
OMIM:615338	SLC25A22	79751	HP:0001332	Dystonia
OMIM:615338	SLC25A22	79751	HP:0002376	Developmental regression
OMIM:615338	SLC25A22	79751	HP:0000572	Visual loss
OMIM:615338	SLC25A22	79751	HP:0001336	Myoclonus
OMIM:615338	TBC1D24	57465	HP:0000252	Microcephaly
OMIM:615338	TBC1D24	57465	HP:0000648	Optic atrophy
OMIM:615338	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:615338	TBC1D24	57465	HP:0200134	Epileptic encephalopathy
OMIM:615338	TBC1D24	57465	HP:0012448	Delayed myelination
OMIM:615338	TBC1D24	57465	HP:0001263	Global developmental delay
OMIM:615338	TBC1D24	57465	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615338	TBC1D24	57465	HP:0006829	Severe muscular hypotonia
OMIM:615338	TBC1D24	57465	HP:0002133	Status epilepticus
OMIM:615338	TBC1D24	57465	HP:0003676	Progressive
OMIM:615338	TBC1D24	57465	HP:0001332	Dystonia
OMIM:615338	TBC1D24	57465	HP:0002376	Developmental regression
OMIM:615338	TBC1D24	57465	HP:0000572	Visual loss
OMIM:615338	TBC1D24	57465	HP:0001336	Myoclonus
OMIM:615338	SLC12A5	57468	HP:0000252	Microcephaly
OMIM:615338	SLC12A5	57468	HP:0000648	Optic atrophy
OMIM:615338	SLC12A5	57468	HP:0000007	Autosomal recessive inheritance
OMIM:615338	SLC12A5	57468	HP:0200134	Epileptic encephalopathy
OMIM:615338	SLC12A5	57468	HP:0012448	Delayed myelination
OMIM:615338	SLC12A5	57468	HP:0001263	Global developmental delay
OMIM:615338	SLC12A5	57468	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615338	SLC12A5	57468	HP:0006829	Severe muscular hypotonia
OMIM:615338	SLC12A5	57468	HP:0002133	Status epilepticus
OMIM:615338	SLC12A5	57468	HP:0003676	Progressive
OMIM:615338	SLC12A5	57468	HP:0001332	Dystonia
OMIM:615338	SLC12A5	57468	HP:0002376	Developmental regression
OMIM:615338	SLC12A5	57468	HP:0000572	Visual loss
OMIM:615338	SLC12A5	57468	HP:0001336	Myoclonus
OMIM:615338	KCNT1	57582	HP:0000252	Microcephaly
OMIM:615338	KCNT1	57582	HP:0000648	Optic atrophy
OMIM:615338	KCNT1	57582	HP:0000007	Autosomal recessive inheritance
OMIM:615338	KCNT1	57582	HP:0200134	Epileptic encephalopathy
OMIM:615338	KCNT1	57582	HP:0012448	Delayed myelination
OMIM:615338	KCNT1	57582	HP:0001263	Global developmental delay
OMIM:615338	KCNT1	57582	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:615338	KCNT1	57582	HP:0006829	Severe muscular hypotonia
OMIM:615338	KCNT1	57582	HP:0002133	Status epilepticus
OMIM:615338	KCNT1	57582	HP:0003676	Progressive
OMIM:615338	KCNT1	57582	HP:0001332	Dystonia
OMIM:615338	KCNT1	57582	HP:0002376	Developmental regression
OMIM:615338	KCNT1	57582	HP:0000572	Visual loss
OMIM:615338	KCNT1	57582	HP:0001336	Myoclonus
ORPHANET:226307	HESX1	8820	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:226307	HESX1	8820	HP:0000280	Coarse facial features
ORPHANET:226307	HESX1	8820	HP:0001252	Muscular hypotonia
ORPHANET:226307	HESX1	8820	HP:0100543	Cognitive impairment
ORPHANET:226307	HESX1	8820	HP:0002360	Sleep disturbance
ORPHANET:226307	HESX1	8820	HP:0002019	Constipation
ORPHANET:226307	HESX1	8820	HP:0000830	Anterior hypopituitarism
ORPHANET:226307	HESX1	8820	HP:0001392	Abnormality of the liver
ORPHANET:226307	HESX1	8820	HP:0000821	Hypothyroidism
ORPHANET:226307	HESX1	8820	HP:0000202	Oral cleft
ORPHANET:226307	HESX1	8820	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:226307	HESX1	8820	HP:0001537	Umbilical hernia
ORPHANET:226307	HESX1	8820	HP:0004322	Short stature
ORPHANET:226307	LHX3	8022	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:226307	LHX3	8022	HP:0000280	Coarse facial features
ORPHANET:226307	LHX3	8022	HP:0001252	Muscular hypotonia
ORPHANET:226307	LHX3	8022	HP:0100543	Cognitive impairment
ORPHANET:226307	LHX3	8022	HP:0002360	Sleep disturbance
ORPHANET:226307	LHX3	8022	HP:0002019	Constipation
ORPHANET:226307	LHX3	8022	HP:0000830	Anterior hypopituitarism
ORPHANET:226307	LHX3	8022	HP:0001392	Abnormality of the liver
ORPHANET:226307	LHX3	8022	HP:0000821	Hypothyroidism
ORPHANET:226307	LHX3	8022	HP:0000202	Oral cleft
ORPHANET:226307	LHX3	8022	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:226307	LHX3	8022	HP:0001537	Umbilical hernia
ORPHANET:226307	LHX3	8022	HP:0004322	Short stature
ORPHANET:226307	POU1F1	5449	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:226307	POU1F1	5449	HP:0000280	Coarse facial features
ORPHANET:226307	POU1F1	5449	HP:0001252	Muscular hypotonia
ORPHANET:226307	POU1F1	5449	HP:0100543	Cognitive impairment
ORPHANET:226307	POU1F1	5449	HP:0002360	Sleep disturbance
ORPHANET:226307	POU1F1	5449	HP:0002019	Constipation
ORPHANET:226307	POU1F1	5449	HP:0000830	Anterior hypopituitarism
ORPHANET:226307	POU1F1	5449	HP:0001392	Abnormality of the liver
ORPHANET:226307	POU1F1	5449	HP:0000821	Hypothyroidism
ORPHANET:226307	POU1F1	5449	HP:0000202	Oral cleft
ORPHANET:226307	POU1F1	5449	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:226307	POU1F1	5449	HP:0001537	Umbilical hernia
ORPHANET:226307	POU1F1	5449	HP:0004322	Short stature
ORPHANET:226307	PROP1	5626	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:226307	PROP1	5626	HP:0000280	Coarse facial features
ORPHANET:226307	PROP1	5626	HP:0001252	Muscular hypotonia
ORPHANET:226307	PROP1	5626	HP:0100543	Cognitive impairment
ORPHANET:226307	PROP1	5626	HP:0002360	Sleep disturbance
ORPHANET:226307	PROP1	5626	HP:0002019	Constipation
ORPHANET:226307	PROP1	5626	HP:0000830	Anterior hypopituitarism
ORPHANET:226307	PROP1	5626	HP:0001392	Abnormality of the liver
ORPHANET:226307	PROP1	5626	HP:0000821	Hypothyroidism
ORPHANET:226307	PROP1	5626	HP:0000202	Oral cleft
ORPHANET:226307	PROP1	5626	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:226307	PROP1	5626	HP:0001537	Umbilical hernia
ORPHANET:226307	PROP1	5626	HP:0004322	Short stature
ORPHANET:226307	LHX4	89884	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:226307	LHX4	89884	HP:0000280	Coarse facial features
ORPHANET:226307	LHX4	89884	HP:0001252	Muscular hypotonia
ORPHANET:226307	LHX4	89884	HP:0100543	Cognitive impairment
ORPHANET:226307	LHX4	89884	HP:0002360	Sleep disturbance
ORPHANET:226307	LHX4	89884	HP:0002019	Constipation
ORPHANET:226307	LHX4	89884	HP:0000830	Anterior hypopituitarism
ORPHANET:226307	LHX4	89884	HP:0001392	Abnormality of the liver
ORPHANET:226307	LHX4	89884	HP:0000821	Hypothyroidism
ORPHANET:226307	LHX4	89884	HP:0000202	Oral cleft
ORPHANET:226307	LHX4	89884	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:226307	LHX4	89884	HP:0001537	Umbilical hernia
ORPHANET:226307	LHX4	89884	HP:0004322	Short stature
OMIM:614559	ACO2	50	HP:0010864	Intellectual disability, severe
OMIM:614559	ACO2	50	HP:0001252	Muscular hypotonia
OMIM:614559	ACO2	50	HP:0001272	Cerebellar atrophy
OMIM:614559	ACO2	50	HP:0001251	Ataxia
OMIM:614559	ACO2	50	HP:0002120	Cerebral cortical atrophy
OMIM:614559	ACO2	50	HP:0001250	Seizures
OMIM:614559	ACO2	50	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614559	ACO2	50	HP:0000007	Autosomal recessive inheritance
OMIM:614559	ACO2	50	HP:0001508	Failure to thrive
OMIM:614559	ACO2	50	HP:0002305	Athetosis
OMIM:614559	ACO2	50	HP:0000253	Progressive microcephaly
OMIM:614559	ACO2	50	HP:0001265	Hyporeflexia
OMIM:614559	ACO2	50	HP:0000486	Strabismus
OMIM:614559	ACO2	50	HP:0000556	Retinal dystrophy
OMIM:614559	ACO2	50	HP:0000639	Nystagmus
OMIM:614559	ACO2	50	HP:0000407	Sensorineural hearing impairment
OMIM:614559	ACO2	50	HP:0000648	Optic atrophy
OMIM:614559	ACO2	50	HP:0001284	Areflexia
OMIM:614559	ACO2	50	HP:0011344	Severe global developmental delay
OMIM:183600	BTRC	8945	HP:0001159	Syndactyly
OMIM:183600	BTRC	8945	HP:0001249	Intellectual disability
OMIM:183600	BTRC	8945	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:183600	BTRC	8945	HP:0010055	Broad hallux
OMIM:183600	BTRC	8945	HP:0030084	Clinodactyly
OMIM:183600	BTRC	8945	HP:0000377	Abnormality of the pinna
OMIM:183600	BTRC	8945	HP:0000175	Cleft palate
OMIM:183600	BTRC	8945	HP:0000365	Hearing impairment
OMIM:183600	BTRC	8945	HP:0001171	Split hand
OMIM:183600	BTRC	8945	HP:0000006	Autosomal dominant inheritance
OMIM:183600	BTRC	8945	HP:0001199	Triphalangeal thumb
OMIM:183600	TP63	8626	HP:0001159	Syndactyly
OMIM:183600	TP63	8626	HP:0001249	Intellectual disability
OMIM:183600	TP63	8626	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:183600	TP63	8626	HP:0010055	Broad hallux
OMIM:183600	TP63	8626	HP:0030084	Clinodactyly
OMIM:183600	TP63	8626	HP:0000377	Abnormality of the pinna
OMIM:183600	TP63	8626	HP:0000175	Cleft palate
OMIM:183600	TP63	8626	HP:0000365	Hearing impairment
OMIM:183600	TP63	8626	HP:0001171	Split hand
OMIM:183600	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:183600	TP63	8626	HP:0001199	Triphalangeal thumb
OMIM:183600	FBXW4	6468	HP:0001159	Syndactyly
OMIM:183600	FBXW4	6468	HP:0001249	Intellectual disability
OMIM:183600	FBXW4	6468	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:183600	FBXW4	6468	HP:0010055	Broad hallux
OMIM:183600	FBXW4	6468	HP:0030084	Clinodactyly
OMIM:183600	FBXW4	6468	HP:0000377	Abnormality of the pinna
OMIM:183600	FBXW4	6468	HP:0000175	Cleft palate
OMIM:183600	FBXW4	6468	HP:0000365	Hearing impairment
OMIM:183600	FBXW4	6468	HP:0001171	Split hand
OMIM:183600	FBXW4	6468	HP:0000006	Autosomal dominant inheritance
OMIM:183600	FBXW4	6468	HP:0001199	Triphalangeal thumb
OMIM:183600	DLX5	1749	HP:0001159	Syndactyly
OMIM:183600	DLX5	1749	HP:0001249	Intellectual disability
OMIM:183600	DLX5	1749	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:183600	DLX5	1749	HP:0010055	Broad hallux
OMIM:183600	DLX5	1749	HP:0030084	Clinodactyly
OMIM:183600	DLX5	1749	HP:0000377	Abnormality of the pinna
OMIM:183600	DLX5	1749	HP:0000175	Cleft palate
OMIM:183600	DLX5	1749	HP:0000365	Hearing impairment
OMIM:183600	DLX5	1749	HP:0001171	Split hand
OMIM:183600	DLX5	1749	HP:0000006	Autosomal dominant inheritance
OMIM:183600	DLX5	1749	HP:0001199	Triphalangeal thumb
OMIM:183600	WNT10B	7480	HP:0001159	Syndactyly
OMIM:183600	WNT10B	7480	HP:0001249	Intellectual disability
OMIM:183600	WNT10B	7480	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:183600	WNT10B	7480	HP:0010055	Broad hallux
OMIM:183600	WNT10B	7480	HP:0030084	Clinodactyly
OMIM:183600	WNT10B	7480	HP:0000377	Abnormality of the pinna
OMIM:183600	WNT10B	7480	HP:0000175	Cleft palate
OMIM:183600	WNT10B	7480	HP:0000365	Hearing impairment
OMIM:183600	WNT10B	7480	HP:0001171	Split hand
OMIM:183600	WNT10B	7480	HP:0000006	Autosomal dominant inheritance
OMIM:183600	WNT10B	7480	HP:0001199	Triphalangeal thumb
OMIM:183600	SHFM1	7979	HP:0001159	Syndactyly
OMIM:183600	SHFM1	7979	HP:0001249	Intellectual disability
OMIM:183600	SHFM1	7979	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:183600	SHFM1	7979	HP:0010055	Broad hallux
OMIM:183600	SHFM1	7979	HP:0030084	Clinodactyly
OMIM:183600	SHFM1	7979	HP:0000377	Abnormality of the pinna
OMIM:183600	SHFM1	7979	HP:0000175	Cleft palate
OMIM:183600	SHFM1	7979	HP:0000365	Hearing impairment
OMIM:183600	SHFM1	7979	HP:0001171	Split hand
OMIM:183600	SHFM1	7979	HP:0000006	Autosomal dominant inheritance
OMIM:183600	SHFM1	7979	HP:0001199	Triphalangeal thumb
OMIM:102530	SPATA16	83893	HP:0000789	Infertility
OMIM:102530	SPATA16	83893	HP:0012205	Globozoospermia
OMIM:102530	PICK1	9463	HP:0000789	Infertility
OMIM:102530	PICK1	9463	HP:0012205	Globozoospermia
OMIM:102530	NANOS1	340719	HP:0000789	Infertility
OMIM:102530	NANOS1	340719	HP:0012205	Globozoospermia
OMIM:102530	DPY19L2	283417	HP:0000789	Infertility
OMIM:102530	DPY19L2	283417	HP:0012205	Globozoospermia
OMIM:602849	FGFR3	2261	HP:0001263	Global developmental delay
OMIM:602849	FGFR3	2261	HP:0005048	Synostosis of carpal bones
OMIM:602849	FGFR3	2261	HP:0000174	Abnormality of the palate
OMIM:602849	FGFR3	2261	HP:0001831	Short toe
OMIM:602849	FGFR3	2261	HP:0000294	Low anterior hairline
OMIM:602849	FGFR3	2261	HP:0000218	High palate
OMIM:602849	FGFR3	2261	HP:0000272	Malar flattening
OMIM:602849	FGFR3	2261	HP:0000494	Downslanted palpebral fissures
OMIM:602849	FGFR3	2261	HP:0000520	Proptosis
OMIM:602849	FGFR3	2261	HP:0000407	Sensorineural hearing impairment
OMIM:602849	FGFR3	2261	HP:0100543	Cognitive impairment
OMIM:602849	FGFR3	2261	HP:0000256	Macrocephaly
OMIM:602849	FGFR3	2261	HP:0010579	Cone-shaped epiphysis
OMIM:602849	FGFR3	2261	HP:0000316	Hypertelorism
OMIM:602849	FGFR3	2261	HP:0001156	Brachydactyly syndrome
OMIM:602849	FGFR3	2261	HP:0011800	Hypoplasia of midface
OMIM:602849	FGFR3	2261	HP:0000248	Brachycephaly
OMIM:602849	FGFR3	2261	HP:0001357	Plagiocephaly
OMIM:602849	FGFR3	2261	HP:0010055	Broad hallux
OMIM:602849	FGFR3	2261	HP:0005819	Short middle phalanx of finger
OMIM:602849	FGFR3	2261	HP:0000508	Ptosis
OMIM:602849	FGFR3	2261	HP:0000238	Hydrocephalus
OMIM:602849	FGFR3	2261	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:602849	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:602849	FGFR3	2261	HP:0030084	Clinodactyly
OMIM:602849	FGFR3	2261	HP:0004440	Coronal craniosynostosis
OMIM:602849	FGFR3	2261	HP:0009466	Radial deviation of finger
OMIM:602849	FGFR3	2261	HP:0001249	Intellectual disability
OMIM:602849	FGFR3	2261	HP:0008368	Tarsal synostosis
OMIM:232400	AGL	178	HP:0000007	Autosomal recessive inheritance
OMIM:232400	AGL	178	HP:0011800	Hypoplasia of midface
OMIM:232400	AGL	178	HP:0001395	Hepatic fibrosis
OMIM:232400	AGL	178	HP:0000293	Full cheeks
OMIM:232400	AGL	178	HP:0000490	Deeply set eye
OMIM:232400	AGL	178	HP:0002240	Hepatomegaly
OMIM:232400	AGL	178	HP:0003198	Myopathy
OMIM:232400	AGL	178	HP:0003693	Distal amyotrophy
OMIM:232400	AGL	178	HP:0000272	Malar flattening
OMIM:232400	AGL	178	HP:0003077	Hyperlipidemia
OMIM:232400	AGL	178	HP:0002910	Elevated hepatic transaminases
OMIM:232400	AGL	178	HP:0001638	Cardiomyopathy
OMIM:232400	AGL	178	HP:0010978	Abnormality of immune system physiology
OMIM:232400	AGL	178	HP:0004322	Short stature
OMIM:232400	AGL	178	HP:0001943	Hypoglycemia
OMIM:232400	AGL	178	HP:0000219	Thin upper lip vermilion
OMIM:232400	AGL	178	HP:0100543	Cognitive impairment
OMIM:232400	AGL	178	HP:0005280	Depressed nasal bridge
OMIM:232400	AGL	178	HP:0003119	Abnormality of lipid metabolism
OMIM:232400	AGL	178	HP:0001324	Muscle weakness
OMIM:232400	AGL	178	HP:0000455	Broad nasal tip
OMIM:232400	AGL	178	HP:0003236	Elevated serum creatine phosphokinase
OMIM:232400	AGL	178	HP:0001714	Ventricular hypertrophy
OMIM:276901	PDZD7	79955	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276901	PDZD7	79955	HP:0000007	Autosomal recessive inheritance
OMIM:276901	PDZD7	79955	HP:0000510	Rod-cone dystrophy
OMIM:276901	DFNB31	25861	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276901	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:276901	DFNB31	25861	HP:0000510	Rod-cone dystrophy
OMIM:276901	USH2A	7399	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276901	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:276901	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:276901	MYO7A	4647	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276901	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:276901	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:276901	ADGRV1	84059	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276901	ADGRV1	84059	HP:0000007	Autosomal recessive inheritance
OMIM:276901	ADGRV1	84059	HP:0000510	Rod-cone dystrophy
OMIM:309549	ZNF711	7552	HP:0001250	Seizures
OMIM:309549	ZNF711	7552	HP:0002194	Delayed gross motor development
OMIM:309549	ZNF711	7552	HP:0000717	Autism
OMIM:309549	ZNF711	7552	HP:0000750	Delayed speech and language development
OMIM:309549	ZNF711	7552	HP:0001256	Intellectual disability, mild
OMIM:309549	ZNF711	7552	HP:0005280	Depressed nasal bridge
OMIM:309549	ZNF711	7552	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	ZNF711	7552	HP:0001417	X-linked inheritance
OMIM:309549	IL1RAPL1	11141	HP:0001250	Seizures
OMIM:309549	IL1RAPL1	11141	HP:0002194	Delayed gross motor development
OMIM:309549	IL1RAPL1	11141	HP:0000717	Autism
OMIM:309549	IL1RAPL1	11141	HP:0000750	Delayed speech and language development
OMIM:309549	IL1RAPL1	11141	HP:0001256	Intellectual disability, mild
OMIM:309549	IL1RAPL1	11141	HP:0005280	Depressed nasal bridge
OMIM:309549	IL1RAPL1	11141	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	IL1RAPL1	11141	HP:0001417	X-linked inheritance
OMIM:309549	ACSL4	2182	HP:0001250	Seizures
OMIM:309549	ACSL4	2182	HP:0002194	Delayed gross motor development
OMIM:309549	ACSL4	2182	HP:0000717	Autism
OMIM:309549	ACSL4	2182	HP:0000750	Delayed speech and language development
OMIM:309549	ACSL4	2182	HP:0001256	Intellectual disability, mild
OMIM:309549	ACSL4	2182	HP:0005280	Depressed nasal bridge
OMIM:309549	ACSL4	2182	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	ACSL4	2182	HP:0001417	X-linked inheritance
OMIM:309549	PAK3	5063	HP:0001250	Seizures
OMIM:309549	PAK3	5063	HP:0002194	Delayed gross motor development
OMIM:309549	PAK3	5063	HP:0000717	Autism
OMIM:309549	PAK3	5063	HP:0000750	Delayed speech and language development
OMIM:309549	PAK3	5063	HP:0001256	Intellectual disability, mild
OMIM:309549	PAK3	5063	HP:0005280	Depressed nasal bridge
OMIM:309549	PAK3	5063	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	PAK3	5063	HP:0001417	X-linked inheritance
OMIM:309549	SYP	6855	HP:0001250	Seizures
OMIM:309549	SYP	6855	HP:0002194	Delayed gross motor development
OMIM:309549	SYP	6855	HP:0000717	Autism
OMIM:309549	SYP	6855	HP:0000750	Delayed speech and language development
OMIM:309549	SYP	6855	HP:0001256	Intellectual disability, mild
OMIM:309549	SYP	6855	HP:0005280	Depressed nasal bridge
OMIM:309549	SYP	6855	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	SYP	6855	HP:0001417	X-linked inheritance
OMIM:309549	FTSJ1	24140	HP:0001250	Seizures
OMIM:309549	FTSJ1	24140	HP:0002194	Delayed gross motor development
OMIM:309549	FTSJ1	24140	HP:0000717	Autism
OMIM:309549	FTSJ1	24140	HP:0000750	Delayed speech and language development
OMIM:309549	FTSJ1	24140	HP:0001256	Intellectual disability, mild
OMIM:309549	FTSJ1	24140	HP:0005280	Depressed nasal bridge
OMIM:309549	FTSJ1	24140	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	FTSJ1	24140	HP:0001417	X-linked inheritance
OMIM:309549	DLG3	1741	HP:0001250	Seizures
OMIM:309549	DLG3	1741	HP:0002194	Delayed gross motor development
OMIM:309549	DLG3	1741	HP:0000717	Autism
OMIM:309549	DLG3	1741	HP:0000750	Delayed speech and language development
OMIM:309549	DLG3	1741	HP:0001256	Intellectual disability, mild
OMIM:309549	DLG3	1741	HP:0005280	Depressed nasal bridge
OMIM:309549	DLG3	1741	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	DLG3	1741	HP:0001417	X-linked inheritance
OMIM:309549	PTCHD1	139411	HP:0001250	Seizures
OMIM:309549	PTCHD1	139411	HP:0002194	Delayed gross motor development
OMIM:309549	PTCHD1	139411	HP:0000717	Autism
OMIM:309549	PTCHD1	139411	HP:0000750	Delayed speech and language development
OMIM:309549	PTCHD1	139411	HP:0001256	Intellectual disability, mild
OMIM:309549	PTCHD1	139411	HP:0005280	Depressed nasal bridge
OMIM:309549	PTCHD1	139411	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	PTCHD1	139411	HP:0001417	X-linked inheritance
OMIM:309549	UPF3B	65109	HP:0001250	Seizures
OMIM:309549	UPF3B	65109	HP:0002194	Delayed gross motor development
OMIM:309549	UPF3B	65109	HP:0000717	Autism
OMIM:309549	UPF3B	65109	HP:0000750	Delayed speech and language development
OMIM:309549	UPF3B	65109	HP:0001256	Intellectual disability, mild
OMIM:309549	UPF3B	65109	HP:0005280	Depressed nasal bridge
OMIM:309549	UPF3B	65109	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	UPF3B	65109	HP:0001417	X-linked inheritance
OMIM:309549	ZNF81	347344	HP:0001250	Seizures
OMIM:309549	ZNF81	347344	HP:0002194	Delayed gross motor development
OMIM:309549	ZNF81	347344	HP:0000717	Autism
OMIM:309549	ZNF81	347344	HP:0000750	Delayed speech and language development
OMIM:309549	ZNF81	347344	HP:0001256	Intellectual disability, mild
OMIM:309549	ZNF81	347344	HP:0005280	Depressed nasal bridge
OMIM:309549	ZNF81	347344	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	ZNF81	347344	HP:0001417	X-linked inheritance
OMIM:309549	RAB39B	116442	HP:0001250	Seizures
OMIM:309549	RAB39B	116442	HP:0002194	Delayed gross motor development
OMIM:309549	RAB39B	116442	HP:0000717	Autism
OMIM:309549	RAB39B	116442	HP:0000750	Delayed speech and language development
OMIM:309549	RAB39B	116442	HP:0001256	Intellectual disability, mild
OMIM:309549	RAB39B	116442	HP:0005280	Depressed nasal bridge
OMIM:309549	RAB39B	116442	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	RAB39B	116442	HP:0001417	X-linked inheritance
OMIM:309549	DMD	1756	HP:0001250	Seizures
OMIM:309549	DMD	1756	HP:0002194	Delayed gross motor development
OMIM:309549	DMD	1756	HP:0000717	Autism
OMIM:309549	DMD	1756	HP:0000750	Delayed speech and language development
OMIM:309549	DMD	1756	HP:0001256	Intellectual disability, mild
OMIM:309549	DMD	1756	HP:0005280	Depressed nasal bridge
OMIM:309549	DMD	1756	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	DMD	1756	HP:0001417	X-linked inheritance
OMIM:309549	MAGT1	84061	HP:0001250	Seizures
OMIM:309549	MAGT1	84061	HP:0002194	Delayed gross motor development
OMIM:309549	MAGT1	84061	HP:0000717	Autism
OMIM:309549	MAGT1	84061	HP:0000750	Delayed speech and language development
OMIM:309549	MAGT1	84061	HP:0001256	Intellectual disability, mild
OMIM:309549	MAGT1	84061	HP:0005280	Depressed nasal bridge
OMIM:309549	MAGT1	84061	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	MAGT1	84061	HP:0001417	X-linked inheritance
OMIM:309549	MID2	11043	HP:0001250	Seizures
OMIM:309549	MID2	11043	HP:0002194	Delayed gross motor development
OMIM:309549	MID2	11043	HP:0000717	Autism
OMIM:309549	MID2	11043	HP:0000750	Delayed speech and language development
OMIM:309549	MID2	11043	HP:0001256	Intellectual disability, mild
OMIM:309549	MID2	11043	HP:0005280	Depressed nasal bridge
OMIM:309549	MID2	11043	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	MID2	11043	HP:0001417	X-linked inheritance
OMIM:309549	GDI1	2664	HP:0001250	Seizures
OMIM:309549	GDI1	2664	HP:0002194	Delayed gross motor development
OMIM:309549	GDI1	2664	HP:0000717	Autism
OMIM:309549	GDI1	2664	HP:0000750	Delayed speech and language development
OMIM:309549	GDI1	2664	HP:0001256	Intellectual disability, mild
OMIM:309549	GDI1	2664	HP:0005280	Depressed nasal bridge
OMIM:309549	GDI1	2664	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	GDI1	2664	HP:0001417	X-linked inheritance
OMIM:309549	ZNF41	7592	HP:0001250	Seizures
OMIM:309549	ZNF41	7592	HP:0002194	Delayed gross motor development
OMIM:309549	ZNF41	7592	HP:0000717	Autism
OMIM:309549	ZNF41	7592	HP:0000750	Delayed speech and language development
OMIM:309549	ZNF41	7592	HP:0001256	Intellectual disability, mild
OMIM:309549	ZNF41	7592	HP:0005280	Depressed nasal bridge
OMIM:309549	ZNF41	7592	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	ZNF41	7592	HP:0001417	X-linked inheritance
OMIM:309549	MECP2	4204	HP:0001250	Seizures
OMIM:309549	MECP2	4204	HP:0002194	Delayed gross motor development
OMIM:309549	MECP2	4204	HP:0000717	Autism
OMIM:309549	MECP2	4204	HP:0000750	Delayed speech and language development
OMIM:309549	MECP2	4204	HP:0001256	Intellectual disability, mild
OMIM:309549	MECP2	4204	HP:0005280	Depressed nasal bridge
OMIM:309549	MECP2	4204	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	MECP2	4204	HP:0001417	X-linked inheritance
OMIM:309549	HCFC1	3054	HP:0001250	Seizures
OMIM:309549	HCFC1	3054	HP:0002194	Delayed gross motor development
OMIM:309549	HCFC1	3054	HP:0000717	Autism
OMIM:309549	HCFC1	3054	HP:0000750	Delayed speech and language development
OMIM:309549	HCFC1	3054	HP:0001256	Intellectual disability, mild
OMIM:309549	HCFC1	3054	HP:0005280	Depressed nasal bridge
OMIM:309549	HCFC1	3054	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	HCFC1	3054	HP:0001417	X-linked inheritance
OMIM:309549	USP9X	8239	HP:0001250	Seizures
OMIM:309549	USP9X	8239	HP:0002194	Delayed gross motor development
OMIM:309549	USP9X	8239	HP:0000717	Autism
OMIM:309549	USP9X	8239	HP:0000750	Delayed speech and language development
OMIM:309549	USP9X	8239	HP:0001256	Intellectual disability, mild
OMIM:309549	USP9X	8239	HP:0005280	Depressed nasal bridge
OMIM:309549	USP9X	8239	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	USP9X	8239	HP:0001417	X-linked inheritance
OMIM:309549	MED12	9968	HP:0001250	Seizures
OMIM:309549	MED12	9968	HP:0002194	Delayed gross motor development
OMIM:309549	MED12	9968	HP:0000717	Autism
OMIM:309549	MED12	9968	HP:0000750	Delayed speech and language development
OMIM:309549	MED12	9968	HP:0001256	Intellectual disability, mild
OMIM:309549	MED12	9968	HP:0005280	Depressed nasal bridge
OMIM:309549	MED12	9968	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	MED12	9968	HP:0001417	X-linked inheritance
OMIM:309549	ZNF674	641339	HP:0001250	Seizures
OMIM:309549	ZNF674	641339	HP:0002194	Delayed gross motor development
OMIM:309549	ZNF674	641339	HP:0000717	Autism
OMIM:309549	ZNF674	641339	HP:0000750	Delayed speech and language development
OMIM:309549	ZNF674	641339	HP:0001256	Intellectual disability, mild
OMIM:309549	ZNF674	641339	HP:0005280	Depressed nasal bridge
OMIM:309549	ZNF674	641339	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	ZNF674	641339	HP:0001417	X-linked inheritance
OMIM:309549	ARHGEF6	9459	HP:0001250	Seizures
OMIM:309549	ARHGEF6	9459	HP:0002194	Delayed gross motor development
OMIM:309549	ARHGEF6	9459	HP:0000717	Autism
OMIM:309549	ARHGEF6	9459	HP:0000750	Delayed speech and language development
OMIM:309549	ARHGEF6	9459	HP:0001256	Intellectual disability, mild
OMIM:309549	ARHGEF6	9459	HP:0005280	Depressed nasal bridge
OMIM:309549	ARHGEF6	9459	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	ARHGEF6	9459	HP:0001417	X-linked inheritance
OMIM:309549	RPS6KA3	6197	HP:0001250	Seizures
OMIM:309549	RPS6KA3	6197	HP:0002194	Delayed gross motor development
OMIM:309549	RPS6KA3	6197	HP:0000717	Autism
OMIM:309549	RPS6KA3	6197	HP:0000750	Delayed speech and language development
OMIM:309549	RPS6KA3	6197	HP:0001256	Intellectual disability, mild
OMIM:309549	RPS6KA3	6197	HP:0005280	Depressed nasal bridge
OMIM:309549	RPS6KA3	6197	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	RPS6KA3	6197	HP:0001417	X-linked inheritance
OMIM:309549	IQSEC2	23096	HP:0001250	Seizures
OMIM:309549	IQSEC2	23096	HP:0002194	Delayed gross motor development
OMIM:309549	IQSEC2	23096	HP:0000717	Autism
OMIM:309549	IQSEC2	23096	HP:0000750	Delayed speech and language development
OMIM:309549	IQSEC2	23096	HP:0001256	Intellectual disability, mild
OMIM:309549	IQSEC2	23096	HP:0005280	Depressed nasal bridge
OMIM:309549	IQSEC2	23096	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	IQSEC2	23096	HP:0001417	X-linked inheritance
OMIM:309549	AGTR2	186	HP:0001250	Seizures
OMIM:309549	AGTR2	186	HP:0002194	Delayed gross motor development
OMIM:309549	AGTR2	186	HP:0000717	Autism
OMIM:309549	AGTR2	186	HP:0000750	Delayed speech and language development
OMIM:309549	AGTR2	186	HP:0001256	Intellectual disability, mild
OMIM:309549	AGTR2	186	HP:0005280	Depressed nasal bridge
OMIM:309549	AGTR2	186	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:309549	ARX	170302	HP:0001250	Seizures
OMIM:309549	ARX	170302	HP:0002194	Delayed gross motor development
OMIM:309549	ARX	170302	HP:0000717	Autism
OMIM:309549	ARX	170302	HP:0000750	Delayed speech and language development
OMIM:309549	ARX	170302	HP:0001256	Intellectual disability, mild
OMIM:309549	ARX	170302	HP:0005280	Depressed nasal bridge
OMIM:309549	ARX	170302	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	ARX	170302	HP:0001417	X-linked inheritance
OMIM:309549	ALG13	79868	HP:0001250	Seizures
OMIM:309549	ALG13	79868	HP:0002194	Delayed gross motor development
OMIM:309549	ALG13	79868	HP:0000717	Autism
OMIM:309549	ALG13	79868	HP:0000750	Delayed speech and language development
OMIM:309549	ALG13	79868	HP:0001256	Intellectual disability, mild
OMIM:309549	ALG13	79868	HP:0005280	Depressed nasal bridge
OMIM:309549	ALG13	79868	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	ALG13	79868	HP:0001417	X-linked inheritance
OMIM:309549	TSPAN7	7102	HP:0001250	Seizures
OMIM:309549	TSPAN7	7102	HP:0002194	Delayed gross motor development
OMIM:309549	TSPAN7	7102	HP:0000717	Autism
OMIM:309549	TSPAN7	7102	HP:0000750	Delayed speech and language development
OMIM:309549	TSPAN7	7102	HP:0001256	Intellectual disability, mild
OMIM:309549	TSPAN7	7102	HP:0005280	Depressed nasal bridge
OMIM:309549	TSPAN7	7102	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:309549	TSPAN7	7102	HP:0001417	X-linked inheritance
OMIM:256700	PHOX2B	8929	HP:0001336	Myoclonus
OMIM:256700	PHOX2B	8929	HP:0002653	Bone pain
OMIM:256700	PHOX2B	8929	HP:0006747	Ganglioneuroblastoma
OMIM:256700	PHOX2B	8929	HP:0000822	Hypertension
OMIM:256700	PHOX2B	8929	HP:0003006	Neuroblastoma
OMIM:256700	PHOX2B	8929	HP:0003829	Incomplete penetrance
OMIM:256700	PHOX2B	8929	HP:0001508	Failure to thrive
OMIM:256700	PHOX2B	8929	HP:0001945	Fever
OMIM:256700	PHOX2B	8929	HP:0002027	Abdominal pain
OMIM:256700	PHOX2B	8929	HP:0002014	Diarrhea
OMIM:256700	PHOX2B	8929	HP:0001425	Heterogeneous
OMIM:256700	PHOX2B	8929	HP:0001824	Weight loss
OMIM:256700	PHOX2B	8929	HP:0001251	Ataxia
OMIM:256700	PHOX2B	8929	HP:0000765	Abnormality of the thorax
OMIM:256700	PHOX2B	8929	HP:0200036	Skin nodule
OMIM:256700	PHOX2B	8929	HP:0001903	Anemia
OMIM:256700	PHOX2B	8929	HP:0000006	Autosomal dominant inheritance
OMIM:256700	PHOX2B	8929	HP:0003745	Sporadic
OMIM:256700	PHOX2B	8929	HP:0003005	Ganglioneuroma
OMIM:256700	PHOX2B	8929	HP:0002176	Spinal cord compression
OMIM:256700	TOP2A	7153	HP:0001336	Myoclonus
OMIM:256700	TOP2A	7153	HP:0002653	Bone pain
OMIM:256700	TOP2A	7153	HP:0006747	Ganglioneuroblastoma
OMIM:256700	TOP2A	7153	HP:0000822	Hypertension
OMIM:256700	TOP2A	7153	HP:0003006	Neuroblastoma
OMIM:256700	TOP2A	7153	HP:0003829	Incomplete penetrance
OMIM:256700	TOP2A	7153	HP:0001508	Failure to thrive
OMIM:256700	TOP2A	7153	HP:0001945	Fever
OMIM:256700	TOP2A	7153	HP:0002027	Abdominal pain
OMIM:256700	TOP2A	7153	HP:0002014	Diarrhea
OMIM:256700	TOP2A	7153	HP:0001425	Heterogeneous
OMIM:256700	TOP2A	7153	HP:0001824	Weight loss
OMIM:256700	TOP2A	7153	HP:0001251	Ataxia
OMIM:256700	TOP2A	7153	HP:0000765	Abnormality of the thorax
OMIM:256700	TOP2A	7153	HP:0200036	Skin nodule
OMIM:256700	TOP2A	7153	HP:0001903	Anemia
OMIM:256700	TOP2A	7153	HP:0000006	Autosomal dominant inheritance
OMIM:256700	TOP2A	7153	HP:0003745	Sporadic
OMIM:256700	TOP2A	7153	HP:0003005	Ganglioneuroma
OMIM:256700	TOP2A	7153	HP:0002176	Spinal cord compression
OMIM:256700	MYCN	4613	HP:0001336	Myoclonus
OMIM:256700	MYCN	4613	HP:0002653	Bone pain
OMIM:256700	MYCN	4613	HP:0006747	Ganglioneuroblastoma
OMIM:256700	MYCN	4613	HP:0000822	Hypertension
OMIM:256700	MYCN	4613	HP:0003006	Neuroblastoma
OMIM:256700	MYCN	4613	HP:0003829	Incomplete penetrance
OMIM:256700	MYCN	4613	HP:0001508	Failure to thrive
OMIM:256700	MYCN	4613	HP:0001945	Fever
OMIM:256700	MYCN	4613	HP:0002027	Abdominal pain
OMIM:256700	MYCN	4613	HP:0002014	Diarrhea
OMIM:256700	MYCN	4613	HP:0001425	Heterogeneous
OMIM:256700	MYCN	4613	HP:0001824	Weight loss
OMIM:256700	MYCN	4613	HP:0001251	Ataxia
OMIM:256700	MYCN	4613	HP:0000765	Abnormality of the thorax
OMIM:256700	MYCN	4613	HP:0200036	Skin nodule
OMIM:256700	MYCN	4613	HP:0001903	Anemia
OMIM:256700	MYCN	4613	HP:0000006	Autosomal dominant inheritance
OMIM:256700	MYCN	4613	HP:0003745	Sporadic
OMIM:256700	MYCN	4613	HP:0003005	Ganglioneuroma
OMIM:256700	MYCN	4613	HP:0002176	Spinal cord compression
OMIM:256700	LIN28B	389421	HP:0001336	Myoclonus
OMIM:256700	LIN28B	389421	HP:0002653	Bone pain
OMIM:256700	LIN28B	389421	HP:0006747	Ganglioneuroblastoma
OMIM:256700	LIN28B	389421	HP:0000822	Hypertension
OMIM:256700	LIN28B	389421	HP:0003006	Neuroblastoma
OMIM:256700	LIN28B	389421	HP:0003829	Incomplete penetrance
OMIM:256700	LIN28B	389421	HP:0001508	Failure to thrive
OMIM:256700	LIN28B	389421	HP:0001945	Fever
OMIM:256700	LIN28B	389421	HP:0002027	Abdominal pain
OMIM:256700	LIN28B	389421	HP:0002014	Diarrhea
OMIM:256700	LIN28B	389421	HP:0001425	Heterogeneous
OMIM:256700	LIN28B	389421	HP:0001824	Weight loss
OMIM:256700	LIN28B	389421	HP:0001251	Ataxia
OMIM:256700	LIN28B	389421	HP:0000765	Abnormality of the thorax
OMIM:256700	LIN28B	389421	HP:0200036	Skin nodule
OMIM:256700	LIN28B	389421	HP:0001903	Anemia
OMIM:256700	LIN28B	389421	HP:0000006	Autosomal dominant inheritance
OMIM:256700	LIN28B	389421	HP:0003745	Sporadic
OMIM:256700	LIN28B	389421	HP:0003005	Ganglioneuroma
OMIM:256700	LIN28B	389421	HP:0002176	Spinal cord compression
OMIM:256700	HACE1	57531	HP:0001336	Myoclonus
OMIM:256700	HACE1	57531	HP:0002653	Bone pain
OMIM:256700	HACE1	57531	HP:0006747	Ganglioneuroblastoma
OMIM:256700	HACE1	57531	HP:0000822	Hypertension
OMIM:256700	HACE1	57531	HP:0003006	Neuroblastoma
OMIM:256700	HACE1	57531	HP:0003829	Incomplete penetrance
OMIM:256700	HACE1	57531	HP:0001508	Failure to thrive
OMIM:256700	HACE1	57531	HP:0001945	Fever
OMIM:256700	HACE1	57531	HP:0002027	Abdominal pain
OMIM:256700	HACE1	57531	HP:0002014	Diarrhea
OMIM:256700	HACE1	57531	HP:0001425	Heterogeneous
OMIM:256700	HACE1	57531	HP:0001824	Weight loss
OMIM:256700	HACE1	57531	HP:0001251	Ataxia
OMIM:256700	HACE1	57531	HP:0000765	Abnormality of the thorax
OMIM:256700	HACE1	57531	HP:0200036	Skin nodule
OMIM:256700	HACE1	57531	HP:0001903	Anemia
OMIM:256700	HACE1	57531	HP:0000006	Autosomal dominant inheritance
OMIM:256700	HACE1	57531	HP:0003745	Sporadic
OMIM:256700	HACE1	57531	HP:0003005	Ganglioneuroma
OMIM:256700	HACE1	57531	HP:0002176	Spinal cord compression
OMIM:256700	NME1	4830	HP:0001336	Myoclonus
OMIM:256700	NME1	4830	HP:0002653	Bone pain
OMIM:256700	NME1	4830	HP:0006747	Ganglioneuroblastoma
OMIM:256700	NME1	4830	HP:0000822	Hypertension
OMIM:256700	NME1	4830	HP:0003006	Neuroblastoma
OMIM:256700	NME1	4830	HP:0003829	Incomplete penetrance
OMIM:256700	NME1	4830	HP:0001508	Failure to thrive
OMIM:256700	NME1	4830	HP:0001945	Fever
OMIM:256700	NME1	4830	HP:0002027	Abdominal pain
OMIM:256700	NME1	4830	HP:0002014	Diarrhea
OMIM:256700	NME1	4830	HP:0001425	Heterogeneous
OMIM:256700	NME1	4830	HP:0001824	Weight loss
OMIM:256700	NME1	4830	HP:0001251	Ataxia
OMIM:256700	NME1	4830	HP:0000765	Abnormality of the thorax
OMIM:256700	NME1	4830	HP:0200036	Skin nodule
OMIM:256700	NME1	4830	HP:0001903	Anemia
OMIM:256700	NME1	4830	HP:0000006	Autosomal dominant inheritance
OMIM:256700	NME1	4830	HP:0003745	Sporadic
OMIM:256700	NME1	4830	HP:0003005	Ganglioneuroma
OMIM:256700	NME1	4830	HP:0002176	Spinal cord compression
OMIM:256700	ALK	238	HP:0001336	Myoclonus
OMIM:256700	ALK	238	HP:0002653	Bone pain
OMIM:256700	ALK	238	HP:0006747	Ganglioneuroblastoma
OMIM:256700	ALK	238	HP:0000822	Hypertension
OMIM:256700	ALK	238	HP:0003006	Neuroblastoma
OMIM:256700	ALK	238	HP:0003829	Incomplete penetrance
OMIM:256700	ALK	238	HP:0001508	Failure to thrive
OMIM:256700	ALK	238	HP:0001945	Fever
OMIM:256700	ALK	238	HP:0002027	Abdominal pain
OMIM:256700	ALK	238	HP:0002014	Diarrhea
OMIM:256700	ALK	238	HP:0001425	Heterogeneous
OMIM:256700	ALK	238	HP:0001824	Weight loss
OMIM:256700	ALK	238	HP:0001251	Ataxia
OMIM:256700	ALK	238	HP:0000765	Abnormality of the thorax
OMIM:256700	ALK	238	HP:0200036	Skin nodule
OMIM:256700	ALK	238	HP:0001903	Anemia
OMIM:256700	ALK	238	HP:0000006	Autosomal dominant inheritance
OMIM:256700	ALK	238	HP:0003745	Sporadic
OMIM:256700	ALK	238	HP:0003005	Ganglioneuroma
OMIM:256700	ALK	238	HP:0002176	Spinal cord compression
OMIM:612379	SRD5A3	79644	HP:0000007	Autosomal recessive inheritance
OMIM:612379	SRD5A3	79644	HP:0002910	Elevated hepatic transaminases
OMIM:612379	SRD5A3	79644	HP:0000639	Nystagmus
OMIM:612379	SRD5A3	79644	HP:0002126	Polymicrogyria
OMIM:612379	SRD5A3	79644	HP:0000964	Eczema
OMIM:612379	SRD5A3	79644	HP:0000962	Hyperkeratosis
OMIM:612379	SRD5A3	79644	HP:0000973	Cutis laxa
OMIM:612379	SRD5A3	79644	HP:0000248	Brachycephaly
OMIM:612379	SRD5A3	79644	HP:0000998	Hypertrichosis
OMIM:612379	SRD5A3	79644	HP:0000316	Hypertelorism
OMIM:612379	SRD5A3	79644	HP:0008064	Ichthyosis
OMIM:612379	SRD5A3	79644	HP:0000369	Low-set ears
OMIM:612379	SRD5A3	79644	HP:0001249	Intellectual disability
OMIM:612379	SRD5A3	79644	HP:0000572	Visual loss
OMIM:612379	SRD5A3	79644	HP:0005280	Depressed nasal bridge
OMIM:612379	SRD5A3	79644	HP:0001252	Muscular hypotonia
OMIM:612379	SRD5A3	79644	HP:0003593	Infantile onset
OMIM:612379	SRD5A3	79644	HP:0001320	Cerebellar vermis hypoplasia
OMIM:612379	SRD5A3	79644	HP:0001270	Motor delay
OMIM:612379	SRD5A3	79644	HP:0001000	Abnormality of skin pigmentation
OMIM:612379	SRD5A3	79644	HP:0000589	Coloboma
OMIM:142690	NCSTN	23385	HP:0000987	Atypical scarring of skin
OMIM:142690	NCSTN	23385	HP:0000006	Autosomal dominant inheritance
OMIM:189980	ABL1	25	HP:0005506	Chronic myelogenous leukemia
OMIM:189980	ABL1	25	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:189980	ABL1	25	HP:0000006	Autosomal dominant inheritance
OMIM:121200	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:121200	KCNQ2	3785	HP:0003623	Neonatal onset
OMIM:121200	KCNQ2	3785	HP:0003812	Phenotypic variability
OMIM:121200	KCNQ2	3785	HP:0001270	Motor delay
OMIM:121200	KCNQ2	3785	HP:0002266	Focal clonic seizures
OMIM:121200	KCNQ2	3785	HP:0001425	Heterogeneous
OMIM:121200	KCNQ2	3785	HP:0002069	Generalized tonic-clonic seizures
OMIM:121200	KCNQ2	3785	HP:0002373	Febrile seizures
OMIM:121200	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:121200	KCNQ2	3785	HP:0000007	Autosomal recessive inheritance
OMIM:121200	KCNQ3	3786	HP:0001263	Global developmental delay
OMIM:121200	KCNQ3	3786	HP:0003623	Neonatal onset
OMIM:121200	KCNQ3	3786	HP:0003812	Phenotypic variability
OMIM:121200	KCNQ3	3786	HP:0001270	Motor delay
OMIM:121200	KCNQ3	3786	HP:0002266	Focal clonic seizures
OMIM:121200	KCNQ3	3786	HP:0001425	Heterogeneous
OMIM:121200	KCNQ3	3786	HP:0002069	Generalized tonic-clonic seizures
OMIM:121200	KCNQ3	3786	HP:0002373	Febrile seizures
OMIM:121200	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:121200	KCNQ3	3786	HP:0000007	Autosomal recessive inheritance
OMIM:616277	SLC19A3	80704	HP:0000365	Hearing impairment
OMIM:616277	SLC19A3	80704	HP:0000639	Nystagmus
OMIM:616277	SLC19A3	80704	HP:0002104	Apnea
OMIM:616277	SLC19A3	80704	HP:0002490	Increased CSF lactate
OMIM:616277	SLC19A3	80704	HP:0001263	Global developmental delay
OMIM:616277	SLC19A3	80704	HP:0001257	Spasticity
OMIM:616277	SLC19A3	80704	HP:0002151	Increased serum lactate
OMIM:616277	SLC19A3	80704	HP:0001629	Ventricular septal defect
OMIM:616277	SLC19A3	80704	HP:0001252	Muscular hypotonia
OMIM:616277	TACO1	51204	HP:0000365	Hearing impairment
OMIM:616277	TACO1	51204	HP:0000639	Nystagmus
OMIM:616277	TACO1	51204	HP:0002104	Apnea
OMIM:616277	TACO1	51204	HP:0002490	Increased CSF lactate
OMIM:616277	TACO1	51204	HP:0001263	Global developmental delay
OMIM:616277	TACO1	51204	HP:0001257	Spasticity
OMIM:616277	TACO1	51204	HP:0002151	Increased serum lactate
OMIM:616277	TACO1	51204	HP:0001629	Ventricular septal defect
OMIM:616277	TACO1	51204	HP:0001252	Muscular hypotonia
OMIM:616277	COX15	1355	HP:0000365	Hearing impairment
OMIM:616277	COX15	1355	HP:0000639	Nystagmus
OMIM:616277	COX15	1355	HP:0002104	Apnea
OMIM:616277	COX15	1355	HP:0002490	Increased CSF lactate
OMIM:616277	COX15	1355	HP:0001263	Global developmental delay
OMIM:616277	COX15	1355	HP:0001257	Spasticity
OMIM:616277	COX15	1355	HP:0002151	Increased serum lactate
OMIM:616277	COX15	1355	HP:0001629	Ventricular septal defect
OMIM:616277	COX15	1355	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFAF6	137682	HP:0000365	Hearing impairment
OMIM:616277	NDUFAF6	137682	HP:0000639	Nystagmus
OMIM:616277	NDUFAF6	137682	HP:0002104	Apnea
OMIM:616277	NDUFAF6	137682	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFAF6	137682	HP:0001263	Global developmental delay
OMIM:616277	NDUFAF6	137682	HP:0001257	Spasticity
OMIM:616277	NDUFAF6	137682	HP:0002151	Increased serum lactate
OMIM:616277	NDUFAF6	137682	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFAF6	137682	HP:0001252	Muscular hypotonia
OMIM:616277	LIPT1	51601	HP:0000365	Hearing impairment
OMIM:616277	LIPT1	51601	HP:0000639	Nystagmus
OMIM:616277	LIPT1	51601	HP:0002104	Apnea
OMIM:616277	LIPT1	51601	HP:0002490	Increased CSF lactate
OMIM:616277	LIPT1	51601	HP:0001263	Global developmental delay
OMIM:616277	LIPT1	51601	HP:0001257	Spasticity
OMIM:616277	LIPT1	51601	HP:0002151	Increased serum lactate
OMIM:616277	LIPT1	51601	HP:0001629	Ventricular septal defect
OMIM:616277	LIPT1	51601	HP:0001252	Muscular hypotonia
OMIM:616277	FOXRED1	55572	HP:0000365	Hearing impairment
OMIM:616277	FOXRED1	55572	HP:0000639	Nystagmus
OMIM:616277	FOXRED1	55572	HP:0002104	Apnea
OMIM:616277	FOXRED1	55572	HP:0002490	Increased CSF lactate
OMIM:616277	FOXRED1	55572	HP:0001263	Global developmental delay
OMIM:616277	FOXRED1	55572	HP:0001257	Spasticity
OMIM:616277	FOXRED1	55572	HP:0002151	Increased serum lactate
OMIM:616277	FOXRED1	55572	HP:0001629	Ventricular septal defect
OMIM:616277	FOXRED1	55572	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFS7	374291	HP:0000365	Hearing impairment
OMIM:616277	NDUFS7	374291	HP:0000639	Nystagmus
OMIM:616277	NDUFS7	374291	HP:0002104	Apnea
OMIM:616277	NDUFS7	374291	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFS7	374291	HP:0001263	Global developmental delay
OMIM:616277	NDUFS7	374291	HP:0001257	Spasticity
OMIM:616277	NDUFS7	374291	HP:0002151	Increased serum lactate
OMIM:616277	NDUFS7	374291	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFS7	374291	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFA2	4695	HP:0000365	Hearing impairment
OMIM:616277	NDUFA2	4695	HP:0000639	Nystagmus
OMIM:616277	NDUFA2	4695	HP:0002104	Apnea
OMIM:616277	NDUFA2	4695	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFA2	4695	HP:0001263	Global developmental delay
OMIM:616277	NDUFA2	4695	HP:0001257	Spasticity
OMIM:616277	NDUFA2	4695	HP:0002151	Increased serum lactate
OMIM:616277	NDUFA2	4695	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFA2	4695	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFA4	4697	HP:0000365	Hearing impairment
OMIM:616277	NDUFA4	4697	HP:0000639	Nystagmus
OMIM:616277	NDUFA4	4697	HP:0002104	Apnea
OMIM:616277	NDUFA4	4697	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFA4	4697	HP:0001263	Global developmental delay
OMIM:616277	NDUFA4	4697	HP:0001257	Spasticity
OMIM:616277	NDUFA4	4697	HP:0002151	Increased serum lactate
OMIM:616277	NDUFA4	4697	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFA4	4697	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFAF5	79133	HP:0000365	Hearing impairment
OMIM:616277	NDUFAF5	79133	HP:0000639	Nystagmus
OMIM:616277	NDUFAF5	79133	HP:0002104	Apnea
OMIM:616277	NDUFAF5	79133	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFAF5	79133	HP:0001263	Global developmental delay
OMIM:616277	NDUFAF5	79133	HP:0001257	Spasticity
OMIM:616277	NDUFAF5	79133	HP:0002151	Increased serum lactate
OMIM:616277	NDUFAF5	79133	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFAF5	79133	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFA12	55967	HP:0000365	Hearing impairment
OMIM:616277	NDUFA12	55967	HP:0000639	Nystagmus
OMIM:616277	NDUFA12	55967	HP:0002104	Apnea
OMIM:616277	NDUFA12	55967	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFA12	55967	HP:0001263	Global developmental delay
OMIM:616277	NDUFA12	55967	HP:0001257	Spasticity
OMIM:616277	NDUFA12	55967	HP:0002151	Increased serum lactate
OMIM:616277	NDUFA12	55967	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFA12	55967	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFA9	4704	HP:0000365	Hearing impairment
OMIM:616277	NDUFA9	4704	HP:0000639	Nystagmus
OMIM:616277	NDUFA9	4704	HP:0002104	Apnea
OMIM:616277	NDUFA9	4704	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFA9	4704	HP:0001263	Global developmental delay
OMIM:616277	NDUFA9	4704	HP:0001257	Spasticity
OMIM:616277	NDUFA9	4704	HP:0002151	Increased serum lactate
OMIM:616277	NDUFA9	4704	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFA9	4704	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFA10	4705	HP:0000365	Hearing impairment
OMIM:616277	NDUFA10	4705	HP:0000639	Nystagmus
OMIM:616277	NDUFA10	4705	HP:0002104	Apnea
OMIM:616277	NDUFA10	4705	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFA10	4705	HP:0001263	Global developmental delay
OMIM:616277	NDUFA10	4705	HP:0001257	Spasticity
OMIM:616277	NDUFA10	4705	HP:0002151	Increased serum lactate
OMIM:616277	NDUFA10	4705	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFA10	4705	HP:0001252	Muscular hypotonia
OMIM:616277	ECHS1	1892	HP:0000365	Hearing impairment
OMIM:616277	ECHS1	1892	HP:0000639	Nystagmus
OMIM:616277	ECHS1	1892	HP:0002104	Apnea
OMIM:616277	ECHS1	1892	HP:0002490	Increased CSF lactate
OMIM:616277	ECHS1	1892	HP:0001263	Global developmental delay
OMIM:616277	ECHS1	1892	HP:0001257	Spasticity
OMIM:616277	ECHS1	1892	HP:0002151	Increased serum lactate
OMIM:616277	ECHS1	1892	HP:0001629	Ventricular septal defect
OMIM:616277	ECHS1	1892	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFAF2	91942	HP:0000365	Hearing impairment
OMIM:616277	NDUFAF2	91942	HP:0000639	Nystagmus
OMIM:616277	NDUFAF2	91942	HP:0002104	Apnea
OMIM:616277	NDUFAF2	91942	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFAF2	91942	HP:0001263	Global developmental delay
OMIM:616277	NDUFAF2	91942	HP:0001257	Spasticity
OMIM:616277	NDUFAF2	91942	HP:0002151	Increased serum lactate
OMIM:616277	NDUFAF2	91942	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFAF2	91942	HP:0001252	Muscular hypotonia
OMIM:616277	PDHA1	5160	HP:0000365	Hearing impairment
OMIM:616277	PDHA1	5160	HP:0000639	Nystagmus
OMIM:616277	PDHA1	5160	HP:0002104	Apnea
OMIM:616277	PDHA1	5160	HP:0002490	Increased CSF lactate
OMIM:616277	PDHA1	5160	HP:0001263	Global developmental delay
OMIM:616277	PDHA1	5160	HP:0001257	Spasticity
OMIM:616277	PDHA1	5160	HP:0002151	Increased serum lactate
OMIM:616277	PDHA1	5160	HP:0001629	Ventricular septal defect
OMIM:616277	PDHA1	5160	HP:0001252	Muscular hypotonia
OMIM:616277	PET100	100131801	HP:0000365	Hearing impairment
OMIM:616277	PET100	100131801	HP:0000639	Nystagmus
OMIM:616277	PET100	100131801	HP:0002104	Apnea
OMIM:616277	PET100	100131801	HP:0002490	Increased CSF lactate
OMIM:616277	PET100	100131801	HP:0001263	Global developmental delay
OMIM:616277	PET100	100131801	HP:0001257	Spasticity
OMIM:616277	PET100	100131801	HP:0002151	Increased serum lactate
OMIM:616277	PET100	100131801	HP:0001629	Ventricular septal defect
OMIM:616277	PET100	100131801	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFS1	4719	HP:0000365	Hearing impairment
OMIM:616277	NDUFS1	4719	HP:0000639	Nystagmus
OMIM:616277	NDUFS1	4719	HP:0002104	Apnea
OMIM:616277	NDUFS1	4719	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFS1	4719	HP:0001263	Global developmental delay
OMIM:616277	NDUFS1	4719	HP:0001257	Spasticity
OMIM:616277	NDUFS1	4719	HP:0002151	Increased serum lactate
OMIM:616277	NDUFS1	4719	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFS1	4719	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFS2	4720	HP:0000365	Hearing impairment
OMIM:616277	NDUFS2	4720	HP:0000639	Nystagmus
OMIM:616277	NDUFS2	4720	HP:0002104	Apnea
OMIM:616277	NDUFS2	4720	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFS2	4720	HP:0001263	Global developmental delay
OMIM:616277	NDUFS2	4720	HP:0001257	Spasticity
OMIM:616277	NDUFS2	4720	HP:0002151	Increased serum lactate
OMIM:616277	NDUFS2	4720	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFS2	4720	HP:0001252	Muscular hypotonia
OMIM:616277	SURF1	6834	HP:0000365	Hearing impairment
OMIM:616277	SURF1	6834	HP:0000639	Nystagmus
OMIM:616277	SURF1	6834	HP:0002104	Apnea
OMIM:616277	SURF1	6834	HP:0002490	Increased CSF lactate
OMIM:616277	SURF1	6834	HP:0001263	Global developmental delay
OMIM:616277	SURF1	6834	HP:0001257	Spasticity
OMIM:616277	SURF1	6834	HP:0002151	Increased serum lactate
OMIM:616277	SURF1	6834	HP:0001629	Ventricular septal defect
OMIM:616277	SURF1	6834	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFS3	4722	HP:0000365	Hearing impairment
OMIM:616277	NDUFS3	4722	HP:0000639	Nystagmus
OMIM:616277	NDUFS3	4722	HP:0002104	Apnea
OMIM:616277	NDUFS3	4722	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFS3	4722	HP:0001263	Global developmental delay
OMIM:616277	NDUFS3	4722	HP:0001257	Spasticity
OMIM:616277	NDUFS3	4722	HP:0002151	Increased serum lactate
OMIM:616277	NDUFS3	4722	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFS3	4722	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFV1	4723	HP:0000365	Hearing impairment
OMIM:616277	NDUFV1	4723	HP:0000639	Nystagmus
OMIM:616277	NDUFV1	4723	HP:0002104	Apnea
OMIM:616277	NDUFV1	4723	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFV1	4723	HP:0001263	Global developmental delay
OMIM:616277	NDUFV1	4723	HP:0001257	Spasticity
OMIM:616277	NDUFV1	4723	HP:0002151	Increased serum lactate
OMIM:616277	NDUFV1	4723	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFV1	4723	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFS4	4724	HP:0000365	Hearing impairment
OMIM:616277	NDUFS4	4724	HP:0000639	Nystagmus
OMIM:616277	NDUFS4	4724	HP:0002104	Apnea
OMIM:616277	NDUFS4	4724	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFS4	4724	HP:0001263	Global developmental delay
OMIM:616277	NDUFS4	4724	HP:0001257	Spasticity
OMIM:616277	NDUFS4	4724	HP:0002151	Increased serum lactate
OMIM:616277	NDUFS4	4724	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFS4	4724	HP:0001252	Muscular hypotonia
OMIM:616277	SDHA	6389	HP:0000365	Hearing impairment
OMIM:616277	SDHA	6389	HP:0000639	Nystagmus
OMIM:616277	SDHA	6389	HP:0002104	Apnea
OMIM:616277	SDHA	6389	HP:0002490	Increased CSF lactate
OMIM:616277	SDHA	6389	HP:0001263	Global developmental delay
OMIM:616277	SDHA	6389	HP:0001257	Spasticity
OMIM:616277	SDHA	6389	HP:0002151	Increased serum lactate
OMIM:616277	SDHA	6389	HP:0001629	Ventricular septal defect
OMIM:616277	SDHA	6389	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFS8	4728	HP:0000365	Hearing impairment
OMIM:616277	NDUFS8	4728	HP:0000639	Nystagmus
OMIM:616277	NDUFS8	4728	HP:0002104	Apnea
OMIM:616277	NDUFS8	4728	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFS8	4728	HP:0001263	Global developmental delay
OMIM:616277	NDUFS8	4728	HP:0001257	Spasticity
OMIM:616277	NDUFS8	4728	HP:0002151	Increased serum lactate
OMIM:616277	NDUFS8	4728	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFS8	4728	HP:0001252	Muscular hypotonia
OMIM:616277	NDUFV2	4729	HP:0000365	Hearing impairment
OMIM:616277	NDUFV2	4729	HP:0000639	Nystagmus
OMIM:616277	NDUFV2	4729	HP:0002104	Apnea
OMIM:616277	NDUFV2	4729	HP:0002490	Increased CSF lactate
OMIM:616277	NDUFV2	4729	HP:0001263	Global developmental delay
OMIM:616277	NDUFV2	4729	HP:0001257	Spasticity
OMIM:616277	NDUFV2	4729	HP:0002151	Increased serum lactate
OMIM:616277	NDUFV2	4729	HP:0001629	Ventricular septal defect
OMIM:616277	NDUFV2	4729	HP:0001252	Muscular hypotonia
OMIM:616277	MTFMT	123263	HP:0000365	Hearing impairment
OMIM:616277	MTFMT	123263	HP:0000639	Nystagmus
OMIM:616277	MTFMT	123263	HP:0002104	Apnea
OMIM:616277	MTFMT	123263	HP:0002490	Increased CSF lactate
OMIM:616277	MTFMT	123263	HP:0001263	Global developmental delay
OMIM:616277	MTFMT	123263	HP:0001257	Spasticity
OMIM:616277	MTFMT	123263	HP:0002151	Increased serum lactate
OMIM:616277	MTFMT	123263	HP:0001629	Ventricular septal defect
OMIM:616277	MTFMT	123263	HP:0001252	Muscular hypotonia
OMIM:300066	COL4A6	1288	HP:0011463	Childhood onset
OMIM:300066	COL4A6	1288	HP:0001423	X-linked dominant inheritance
OMIM:300066	COL4A6	1288	HP:0000407	Sensorineural hearing impairment
OMIM:300066	COL4A6	1288	HP:0005101	High-frequency hearing impairment
OMIM:300066	SMPX	23676	HP:0011463	Childhood onset
OMIM:300066	SMPX	23676	HP:0001423	X-linked dominant inheritance
OMIM:300066	SMPX	23676	HP:0000407	Sensorineural hearing impairment
OMIM:300066	SMPX	23676	HP:0005101	High-frequency hearing impairment
OMIM:300066	PRPS1	5631	HP:0011463	Childhood onset
OMIM:300066	PRPS1	5631	HP:0001423	X-linked dominant inheritance
OMIM:300066	PRPS1	5631	HP:0000407	Sensorineural hearing impairment
OMIM:300066	PRPS1	5631	HP:0005101	High-frequency hearing impairment
OMIM:614701	SMC1A	8243	HP:0000965	Cutis marmorata
OMIM:614701	SMC1A	8243	HP:0000664	Synophrys
OMIM:614701	SMC1A	8243	HP:0000319	Smooth philtrum
OMIM:614701	SMC1A	8243	HP:0000343	Long philtrum
OMIM:614701	SMC1A	8243	HP:0000219	Thin upper lip vermilion
OMIM:614701	SMC1A	8243	HP:0001156	Brachydactyly syndrome
OMIM:614701	SMC1A	8243	HP:0002553	Highly arched eyebrow
OMIM:614701	SMC1A	8243	HP:0001263	Global developmental delay
OMIM:614701	SMC1A	8243	HP:0008428	Vertebral clefting
OMIM:614701	SMC1A	8243	HP:0000175	Cleft palate
OMIM:614701	SMC1A	8243	HP:0000431	Wide nasal bridge
OMIM:614701	SMC1A	8243	HP:0000574	Thick eyebrow
OMIM:614701	SMC1A	8243	HP:0003812	Phenotypic variability
OMIM:614701	SMC1A	8243	HP:0001159	Syndactyly
OMIM:614701	SMC1A	8243	HP:0000006	Autosomal dominant inheritance
OMIM:614701	SMC1A	8243	HP:0100777	Exostoses
OMIM:614701	SMC1A	8243	HP:0004322	Short stature
OMIM:614701	SMC1A	8243	HP:0002937	Hemivertebrae
OMIM:614701	SMC1A	8243	HP:0002020	Gastroesophageal reflux
OMIM:614701	SMC1A	8243	HP:0000252	Microcephaly
OMIM:614701	SMC3	9126	HP:0000965	Cutis marmorata
OMIM:614701	SMC3	9126	HP:0000664	Synophrys
OMIM:614701	SMC3	9126	HP:0000319	Smooth philtrum
OMIM:614701	SMC3	9126	HP:0000343	Long philtrum
OMIM:614701	SMC3	9126	HP:0000219	Thin upper lip vermilion
OMIM:614701	SMC3	9126	HP:0001156	Brachydactyly syndrome
OMIM:614701	SMC3	9126	HP:0002553	Highly arched eyebrow
OMIM:614701	SMC3	9126	HP:0001263	Global developmental delay
OMIM:614701	SMC3	9126	HP:0008428	Vertebral clefting
OMIM:614701	SMC3	9126	HP:0000175	Cleft palate
OMIM:614701	SMC3	9126	HP:0000431	Wide nasal bridge
OMIM:614701	SMC3	9126	HP:0000574	Thick eyebrow
OMIM:614701	SMC3	9126	HP:0003812	Phenotypic variability
OMIM:614701	SMC3	9126	HP:0001159	Syndactyly
OMIM:614701	SMC3	9126	HP:0000006	Autosomal dominant inheritance
OMIM:614701	SMC3	9126	HP:0100777	Exostoses
OMIM:614701	SMC3	9126	HP:0004322	Short stature
OMIM:614701	SMC3	9126	HP:0002937	Hemivertebrae
OMIM:614701	SMC3	9126	HP:0002020	Gastroesophageal reflux
OMIM:614701	SMC3	9126	HP:0000252	Microcephaly
OMIM:614701	NIPBL	25836	HP:0000965	Cutis marmorata
OMIM:614701	NIPBL	25836	HP:0000664	Synophrys
OMIM:614701	NIPBL	25836	HP:0000319	Smooth philtrum
OMIM:614701	NIPBL	25836	HP:0000343	Long philtrum
OMIM:614701	NIPBL	25836	HP:0000219	Thin upper lip vermilion
OMIM:614701	NIPBL	25836	HP:0001156	Brachydactyly syndrome
OMIM:614701	NIPBL	25836	HP:0002553	Highly arched eyebrow
OMIM:614701	NIPBL	25836	HP:0001263	Global developmental delay
OMIM:614701	NIPBL	25836	HP:0008428	Vertebral clefting
OMIM:614701	NIPBL	25836	HP:0000175	Cleft palate
OMIM:614701	NIPBL	25836	HP:0000431	Wide nasal bridge
OMIM:614701	NIPBL	25836	HP:0000574	Thick eyebrow
OMIM:614701	NIPBL	25836	HP:0003812	Phenotypic variability
OMIM:614701	NIPBL	25836	HP:0001159	Syndactyly
OMIM:614701	NIPBL	25836	HP:0000006	Autosomal dominant inheritance
OMIM:614701	NIPBL	25836	HP:0100777	Exostoses
OMIM:614701	NIPBL	25836	HP:0004322	Short stature
OMIM:614701	NIPBL	25836	HP:0002937	Hemivertebrae
OMIM:614701	NIPBL	25836	HP:0002020	Gastroesophageal reflux
OMIM:614701	NIPBL	25836	HP:0000252	Microcephaly
OMIM:614701	RAD21	5885	HP:0000965	Cutis marmorata
OMIM:614701	RAD21	5885	HP:0000664	Synophrys
OMIM:614701	RAD21	5885	HP:0000319	Smooth philtrum
OMIM:614701	RAD21	5885	HP:0000343	Long philtrum
OMIM:614701	RAD21	5885	HP:0000219	Thin upper lip vermilion
OMIM:614701	RAD21	5885	HP:0001156	Brachydactyly syndrome
OMIM:614701	RAD21	5885	HP:0002553	Highly arched eyebrow
OMIM:614701	RAD21	5885	HP:0001263	Global developmental delay
OMIM:614701	RAD21	5885	HP:0008428	Vertebral clefting
OMIM:614701	RAD21	5885	HP:0000175	Cleft palate
OMIM:614701	RAD21	5885	HP:0000431	Wide nasal bridge
OMIM:614701	RAD21	5885	HP:0000574	Thick eyebrow
OMIM:614701	RAD21	5885	HP:0003812	Phenotypic variability
OMIM:614701	RAD21	5885	HP:0001159	Syndactyly
OMIM:614701	RAD21	5885	HP:0000006	Autosomal dominant inheritance
OMIM:614701	RAD21	5885	HP:0100777	Exostoses
OMIM:614701	RAD21	5885	HP:0004322	Short stature
OMIM:614701	RAD21	5885	HP:0002937	Hemivertebrae
OMIM:614701	RAD21	5885	HP:0002020	Gastroesophageal reflux
OMIM:614701	RAD21	5885	HP:0000252	Microcephaly
OMIM:614701	HDAC8	55869	HP:0000965	Cutis marmorata
OMIM:614701	HDAC8	55869	HP:0000664	Synophrys
OMIM:614701	HDAC8	55869	HP:0000319	Smooth philtrum
OMIM:614701	HDAC8	55869	HP:0000343	Long philtrum
OMIM:614701	HDAC8	55869	HP:0000219	Thin upper lip vermilion
OMIM:614701	HDAC8	55869	HP:0001156	Brachydactyly syndrome
OMIM:614701	HDAC8	55869	HP:0002553	Highly arched eyebrow
OMIM:614701	HDAC8	55869	HP:0001263	Global developmental delay
OMIM:614701	HDAC8	55869	HP:0008428	Vertebral clefting
OMIM:614701	HDAC8	55869	HP:0000175	Cleft palate
OMIM:614701	HDAC8	55869	HP:0000431	Wide nasal bridge
OMIM:614701	HDAC8	55869	HP:0000574	Thick eyebrow
OMIM:614701	HDAC8	55869	HP:0003812	Phenotypic variability
OMIM:614701	HDAC8	55869	HP:0001159	Syndactyly
OMIM:614701	HDAC8	55869	HP:0000006	Autosomal dominant inheritance
OMIM:614701	HDAC8	55869	HP:0100777	Exostoses
OMIM:614701	HDAC8	55869	HP:0004322	Short stature
OMIM:614701	HDAC8	55869	HP:0002937	Hemivertebrae
OMIM:614701	HDAC8	55869	HP:0002020	Gastroesophageal reflux
OMIM:614701	HDAC8	55869	HP:0000252	Microcephaly
OMIM:606766	SLC26A8	116369	HP:0000006	Autosomal dominant inheritance
OMIM:606766	SEPT12	124404	HP:0000006	Autosomal dominant inheritance
OMIM:606766	CATSPER1	117144	HP:0000006	Autosomal dominant inheritance
OMIM:606766	DNAH1	25981	HP:0000006	Autosomal dominant inheritance
OMIM:123100	ALX4	60529	HP:0000006	Autosomal dominant inheritance
OMIM:123100	ALX4	60529	HP:0000263	Oxycephaly
OMIM:123100	ALX4	60529	HP:0000262	Turricephaly
OMIM:123100	ALX4	60529	HP:0001363	Craniosynostosis
OMIM:123100	ALX4	60529	HP:0000268	Dolichocephaly
OMIM:123100	FGFR3	2261	HP:0000006	Autosomal dominant inheritance
OMIM:123100	FGFR3	2261	HP:0000263	Oxycephaly
OMIM:123100	FGFR3	2261	HP:0000262	Turricephaly
OMIM:123100	FGFR3	2261	HP:0001363	Craniosynostosis
OMIM:123100	FGFR3	2261	HP:0000268	Dolichocephaly
OMIM:123100	ZIC1	7545	HP:0000006	Autosomal dominant inheritance
OMIM:123100	ZIC1	7545	HP:0000263	Oxycephaly
OMIM:123100	ZIC1	7545	HP:0000262	Turricephaly
OMIM:123100	ZIC1	7545	HP:0001363	Craniosynostosis
OMIM:123100	ZIC1	7545	HP:0000268	Dolichocephaly
OMIM:123100	TCF12	6938	HP:0000006	Autosomal dominant inheritance
OMIM:123100	TCF12	6938	HP:0000263	Oxycephaly
OMIM:123100	TCF12	6938	HP:0000262	Turricephaly
OMIM:123100	TCF12	6938	HP:0001363	Craniosynostosis
OMIM:123100	TCF12	6938	HP:0000268	Dolichocephaly
OMIM:123100	TWIST1	7291	HP:0000006	Autosomal dominant inheritance
OMIM:123100	TWIST1	7291	HP:0000263	Oxycephaly
OMIM:123100	TWIST1	7291	HP:0000262	Turricephaly
OMIM:123100	TWIST1	7291	HP:0001363	Craniosynostosis
OMIM:123100	TWIST1	7291	HP:0000268	Dolichocephaly
OMIM:123100	ERF	2077	HP:0000006	Autosomal dominant inheritance
OMIM:123100	ERF	2077	HP:0000263	Oxycephaly
OMIM:123100	ERF	2077	HP:0000262	Turricephaly
OMIM:123100	ERF	2077	HP:0001363	Craniosynostosis
OMIM:123100	ERF	2077	HP:0000268	Dolichocephaly
OMIM:608328	ADAMTS10	81794	HP:0000006	Autosomal dominant inheritance
OMIM:608328	ADAMTS10	81794	HP:0001256	Intellectual disability, mild
OMIM:608328	ADAMTS10	81794	HP:0001387	Joint stiffness
OMIM:608328	ADAMTS10	81794	HP:0000692	Misalignment of teeth
OMIM:608328	ADAMTS10	81794	HP:0000189	Narrow palate
OMIM:608328	ADAMTS10	81794	HP:0003508	Proportionate short stature
OMIM:608328	ADAMTS10	81794	HP:0011003	Severe Myopia
OMIM:608328	ADAMTS10	81794	HP:0001643	Patent ductus arteriosus
OMIM:608328	ADAMTS10	81794	HP:0001653	Mitral regurgitation
OMIM:608328	ADAMTS10	81794	HP:0001650	Aortic valve stenosis
OMIM:608328	ADAMTS10	81794	HP:0004322	Short stature
OMIM:608328	ADAMTS10	81794	HP:0000327	Hypoplasia of the maxilla
OMIM:608328	ADAMTS10	81794	HP:0001083	Ectopia lentis
OMIM:608328	ADAMTS10	81794	HP:0000248	Brachycephaly
OMIM:608328	ADAMTS10	81794	HP:0000501	Glaucoma
OMIM:608328	ADAMTS10	81794	HP:0002650	Scoliosis
OMIM:608328	ADAMTS10	81794	HP:0001642	Pulmonic stenosis
OMIM:608328	ADAMTS10	81794	HP:0005280	Depressed nasal bridge
OMIM:608328	ADAMTS10	81794	HP:0002682	Broad skull
OMIM:608328	ADAMTS10	81794	HP:0000518	Cataract
OMIM:608328	ADAMTS10	81794	HP:0000618	Blindness
OMIM:608328	ADAMTS10	81794	HP:0002938	Lumbar hyperlordosis
OMIM:608328	ADAMTS10	81794	HP:0009768	Broad phalanges of the hand
OMIM:608328	ADAMTS10	81794	HP:0001156	Brachydactyly syndrome
OMIM:608328	ADAMTS10	81794	HP:0003416	Spinal canal stenosis
OMIM:608328	ADAMTS10	81794	HP:0006482	Abnormality of dental morphology
OMIM:608328	ADAMTS10	81794	HP:0001629	Ventricular septal defect
OMIM:608328	LTBP2	4053	HP:0000006	Autosomal dominant inheritance
OMIM:608328	LTBP2	4053	HP:0001256	Intellectual disability, mild
OMIM:608328	LTBP2	4053	HP:0001387	Joint stiffness
OMIM:608328	LTBP2	4053	HP:0000692	Misalignment of teeth
OMIM:608328	LTBP2	4053	HP:0000189	Narrow palate
OMIM:608328	LTBP2	4053	HP:0003508	Proportionate short stature
OMIM:608328	LTBP2	4053	HP:0011003	Severe Myopia
OMIM:608328	LTBP2	4053	HP:0001643	Patent ductus arteriosus
OMIM:608328	LTBP2	4053	HP:0001653	Mitral regurgitation
OMIM:608328	LTBP2	4053	HP:0001650	Aortic valve stenosis
OMIM:608328	LTBP2	4053	HP:0004322	Short stature
OMIM:608328	LTBP2	4053	HP:0000327	Hypoplasia of the maxilla
OMIM:608328	LTBP2	4053	HP:0001083	Ectopia lentis
OMIM:608328	LTBP2	4053	HP:0000248	Brachycephaly
OMIM:608328	LTBP2	4053	HP:0000501	Glaucoma
OMIM:608328	LTBP2	4053	HP:0002650	Scoliosis
OMIM:608328	LTBP2	4053	HP:0001642	Pulmonic stenosis
OMIM:608328	LTBP2	4053	HP:0005280	Depressed nasal bridge
OMIM:608328	LTBP2	4053	HP:0002682	Broad skull
OMIM:608328	LTBP2	4053	HP:0000518	Cataract
OMIM:608328	LTBP2	4053	HP:0000618	Blindness
OMIM:608328	LTBP2	4053	HP:0002938	Lumbar hyperlordosis
OMIM:608328	LTBP2	4053	HP:0009768	Broad phalanges of the hand
OMIM:608328	LTBP2	4053	HP:0001156	Brachydactyly syndrome
OMIM:608328	LTBP2	4053	HP:0003416	Spinal canal stenosis
OMIM:608328	LTBP2	4053	HP:0006482	Abnormality of dental morphology
OMIM:608328	LTBP2	4053	HP:0001629	Ventricular septal defect
OMIM:608328	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:608328	FBN1	2200	HP:0001256	Intellectual disability, mild
OMIM:608328	FBN1	2200	HP:0001387	Joint stiffness
OMIM:608328	FBN1	2200	HP:0000692	Misalignment of teeth
OMIM:608328	FBN1	2200	HP:0000189	Narrow palate
OMIM:608328	FBN1	2200	HP:0003508	Proportionate short stature
OMIM:608328	FBN1	2200	HP:0011003	Severe Myopia
OMIM:608328	FBN1	2200	HP:0001643	Patent ductus arteriosus
OMIM:608328	FBN1	2200	HP:0001653	Mitral regurgitation
OMIM:608328	FBN1	2200	HP:0001650	Aortic valve stenosis
OMIM:608328	FBN1	2200	HP:0004322	Short stature
OMIM:608328	FBN1	2200	HP:0000327	Hypoplasia of the maxilla
OMIM:608328	FBN1	2200	HP:0001083	Ectopia lentis
OMIM:608328	FBN1	2200	HP:0000248	Brachycephaly
OMIM:608328	FBN1	2200	HP:0000501	Glaucoma
OMIM:608328	FBN1	2200	HP:0002650	Scoliosis
OMIM:608328	FBN1	2200	HP:0001642	Pulmonic stenosis
OMIM:608328	FBN1	2200	HP:0005280	Depressed nasal bridge
OMIM:608328	FBN1	2200	HP:0002682	Broad skull
OMIM:608328	FBN1	2200	HP:0000518	Cataract
OMIM:608328	FBN1	2200	HP:0000618	Blindness
OMIM:608328	FBN1	2200	HP:0002938	Lumbar hyperlordosis
OMIM:608328	FBN1	2200	HP:0009768	Broad phalanges of the hand
OMIM:608328	FBN1	2200	HP:0001156	Brachydactyly syndrome
OMIM:608328	FBN1	2200	HP:0003416	Spinal canal stenosis
OMIM:608328	FBN1	2200	HP:0006482	Abnormality of dental morphology
OMIM:608328	FBN1	2200	HP:0001629	Ventricular septal defect
ORPHANET:2309	KRT17	3872	HP:0000518	Cataract
ORPHANET:2309	KRT17	3872	HP:0001596	Alopecia
ORPHANET:2309	KRT17	3872	HP:0001231	Abnormality of the fingernails
ORPHANET:2309	KRT17	3872	HP:0100543	Cognitive impairment
ORPHANET:2309	KRT17	3872	HP:0002240	Hepatomegaly
ORPHANET:2309	KRT17	3872	HP:0001601	Laryngomalacia
ORPHANET:2309	KRT17	3872	HP:0001131	Corneal dystrophy
ORPHANET:2309	KRT17	3872	HP:0000982	Palmoplantar keratoderma
ORPHANET:2309	KRT17	3872	HP:0001798	Anonychia
ORPHANET:2309	KRT17	3872	HP:0008064	Ichthyosis
ORPHANET:2309	KRT17	3872	HP:0000670	Carious teeth
ORPHANET:2309	KRT17	3872	HP:0008069	Neoplasm of the skin
ORPHANET:2309	KRT17	3872	HP:0002093	Respiratory insufficiency
ORPHANET:2309	KRT17	3872	HP:0008388	Abnormality of the toenails
ORPHANET:2309	KRT17	3872	HP:0000975	Hyperhidrosis
ORPHANET:2309	KRT16	3868	HP:0000518	Cataract
ORPHANET:2309	KRT16	3868	HP:0001596	Alopecia
ORPHANET:2309	KRT16	3868	HP:0001231	Abnormality of the fingernails
ORPHANET:2309	KRT16	3868	HP:0100543	Cognitive impairment
ORPHANET:2309	KRT16	3868	HP:0002240	Hepatomegaly
ORPHANET:2309	KRT16	3868	HP:0001601	Laryngomalacia
ORPHANET:2309	KRT16	3868	HP:0001131	Corneal dystrophy
ORPHANET:2309	KRT16	3868	HP:0000982	Palmoplantar keratoderma
ORPHANET:2309	KRT16	3868	HP:0001798	Anonychia
ORPHANET:2309	KRT16	3868	HP:0008064	Ichthyosis
ORPHANET:2309	KRT16	3868	HP:0000670	Carious teeth
ORPHANET:2309	KRT16	3868	HP:0008069	Neoplasm of the skin
ORPHANET:2309	KRT16	3868	HP:0002093	Respiratory insufficiency
ORPHANET:2309	KRT16	3868	HP:0008388	Abnormality of the toenails
ORPHANET:2309	KRT16	3868	HP:0000975	Hyperhidrosis
ORPHANET:2309	KRT6A	3853	HP:0000518	Cataract
ORPHANET:2309	KRT6A	3853	HP:0001596	Alopecia
ORPHANET:2309	KRT6A	3853	HP:0001231	Abnormality of the fingernails
ORPHANET:2309	KRT6A	3853	HP:0100543	Cognitive impairment
ORPHANET:2309	KRT6A	3853	HP:0002240	Hepatomegaly
ORPHANET:2309	KRT6A	3853	HP:0001601	Laryngomalacia
ORPHANET:2309	KRT6A	3853	HP:0001131	Corneal dystrophy
ORPHANET:2309	KRT6A	3853	HP:0000982	Palmoplantar keratoderma
ORPHANET:2309	KRT6A	3853	HP:0001798	Anonychia
ORPHANET:2309	KRT6A	3853	HP:0008064	Ichthyosis
ORPHANET:2309	KRT6A	3853	HP:0000670	Carious teeth
ORPHANET:2309	KRT6A	3853	HP:0008069	Neoplasm of the skin
ORPHANET:2309	KRT6A	3853	HP:0002093	Respiratory insufficiency
ORPHANET:2309	KRT6A	3853	HP:0008388	Abnormality of the toenails
ORPHANET:2309	KRT6A	3853	HP:0000975	Hyperhidrosis
ORPHANET:2309	KRT6B	3854	HP:0000518	Cataract
ORPHANET:2309	KRT6B	3854	HP:0001596	Alopecia
ORPHANET:2309	KRT6B	3854	HP:0001231	Abnormality of the fingernails
ORPHANET:2309	KRT6B	3854	HP:0100543	Cognitive impairment
ORPHANET:2309	KRT6B	3854	HP:0002240	Hepatomegaly
ORPHANET:2309	KRT6B	3854	HP:0001601	Laryngomalacia
ORPHANET:2309	KRT6B	3854	HP:0001131	Corneal dystrophy
ORPHANET:2309	KRT6B	3854	HP:0000982	Palmoplantar keratoderma
ORPHANET:2309	KRT6B	3854	HP:0001798	Anonychia
ORPHANET:2309	KRT6B	3854	HP:0008064	Ichthyosis
ORPHANET:2309	KRT6B	3854	HP:0000670	Carious teeth
ORPHANET:2309	KRT6B	3854	HP:0008069	Neoplasm of the skin
ORPHANET:2309	KRT6B	3854	HP:0002093	Respiratory insufficiency
ORPHANET:2309	KRT6B	3854	HP:0008388	Abnormality of the toenails
ORPHANET:2309	KRT6B	3854	HP:0000975	Hyperhidrosis
OMIM:615918	TARS2	80222	HP:0008936	Muscular hypotonia of the trunk
OMIM:615918	TARS2	80222	HP:0001397	Hepatic steatosis
OMIM:615918	TARS2	80222	HP:0002509	Limb hypertonia
OMIM:615918	TARS2	80222	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615918	TARS2	80222	HP:0002151	Increased serum lactate
OMIM:615918	TARS2	80222	HP:0001263	Global developmental delay
OMIM:229300	FXN	2395	HP:0000649	Abnormality of visual evoked potentials
OMIM:229300	FXN	2395	HP:0000648	Optic atrophy
OMIM:229300	FXN	2395	HP:0002650	Scoliosis
OMIM:229300	FXN	2395	HP:0001761	Pes cavus
OMIM:229300	FXN	2395	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:229300	FXN	2395	HP:0001639	Hypertrophic cardiomyopathy
OMIM:229300	FXN	2395	HP:0001123	Visual field defect
OMIM:229300	FXN	2395	HP:0003115	Abnormal EKG
OMIM:229300	FXN	2395	HP:0003487	Babinski sign
OMIM:229300	FXN	2395	HP:0000639	Nystagmus
OMIM:229300	FXN	2395	HP:0002066	Gait ataxia
OMIM:229300	FXN	2395	HP:0000819	Diabetes mellitus
OMIM:229300	FXN	2395	HP:0002070	Limb ataxia
OMIM:229300	FXN	2395	HP:0000007	Autosomal recessive inheritance
OMIM:229300	FXN	2395	HP:0007663	Reduced visual acuity
OMIM:229300	FXN	2395	HP:0000505	Visual impairment
OMIM:229300	FXN	2395	HP:0001635	Congestive heart failure
OMIM:229300	FXN	2395	HP:0003621	Juvenile onset
OMIM:229300	FXN	2395	HP:0002495	Impaired vibratory sensation
OMIM:229300	FXN	2395	HP:0000763	Sensory neuropathy
OMIM:229300	FXN	2395	HP:0001260	Dysarthria
OMIM:614823	NOTCH1	4851	HP:0001647	Bicuspid aortic valve
OMIM:614823	NOTCH1	4851	HP:0001680	Coarctation of aorta
OMIM:614823	NOTCH1	4851	HP:0004963	Calcification of the aorta
OMIM:614823	NOTCH1	4851	HP:0000006	Autosomal dominant inheritance
OMIM:614823	SMAD6	4091	HP:0001647	Bicuspid aortic valve
OMIM:614823	SMAD6	4091	HP:0001680	Coarctation of aorta
OMIM:614823	SMAD6	4091	HP:0004963	Calcification of the aorta
OMIM:614823	SMAD6	4091	HP:0000006	Autosomal dominant inheritance
OMIM:614286	GATA2	2624	HP:0002863	Myelodysplasia
OMIM:614286	GATA2	2624	HP:0001428	Somatic mutation
OMIM:614286	TET2	54790	HP:0002863	Myelodysplasia
OMIM:614286	TET2	54790	HP:0001428	Somatic mutation
OMIM:614286	MECOM	2122	HP:0002863	Myelodysplasia
OMIM:614286	MECOM	2122	HP:0001428	Somatic mutation
OMIM:614286	SF3B1	23451	HP:0002863	Myelodysplasia
OMIM:614286	SF3B1	23451	HP:0001428	Somatic mutation
OMIM:614286	ASXL1	171023	HP:0002863	Myelodysplasia
OMIM:614286	ASXL1	171023	HP:0001428	Somatic mutation
OMIM:608611	RPIA	22934	HP:0007141	Sensorimotor neuropathy
OMIM:608611	RPIA	22934	HP:0001250	Seizures
OMIM:608611	RPIA	22934	HP:0001271	Polyneuropathy
OMIM:608611	RPIA	22934	HP:0001257	Spasticity
OMIM:608611	RPIA	22934	HP:0002352	Leukoencephalopathy
OMIM:608611	RPIA	22934	HP:0000007	Autosomal recessive inheritance
OMIM:608611	RPIA	22934	HP:0000648	Optic atrophy
OMIM:608611	RPIA	22934	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:608611	RPIA	22934	HP:0001251	Ataxia
OMIM:608611	RPIA	22934	HP:0001263	Global developmental delay
OMIM:613752	AHCY	191	HP:0001508	Failure to thrive
OMIM:613752	AHCY	191	HP:0001270	Motor delay
OMIM:613752	AHCY	191	HP:0001263	Global developmental delay
OMIM:613752	AHCY	191	HP:0001249	Intellectual disability
OMIM:613752	AHCY	191	HP:0000007	Autosomal recessive inheritance
OMIM:613752	AHCY	191	HP:0001999	Abnormal facial shape
OMIM:613752	AHCY	191	HP:0003235	Hypermethioninemia
OMIM:613752	AHCY	191	HP:0000164	Abnormality of the teeth
OMIM:613752	AHCY	191	HP:0001638	Cardiomyopathy
OMIM:186580	NOD2	64127	HP:0000505	Visual impairment
OMIM:186580	NOD2	64127	HP:0002716	Lymphadenopathy
OMIM:186580	NOD2	64127	HP:0000217	Xerostomia
OMIM:186580	NOD2	64127	HP:0200042	Skin ulcer
OMIM:186580	NOD2	64127	HP:0000501	Glaucoma
OMIM:186580	NOD2	64127	HP:0100490	Camptodactyly of finger
OMIM:186580	NOD2	64127	HP:0001369	Arthritis
OMIM:186580	NOD2	64127	HP:0000648	Optic atrophy
OMIM:186580	NOD2	64127	HP:0000613	Photophobia
OMIM:186580	NOD2	64127	HP:0001903	Anemia
OMIM:186580	NOD2	64127	HP:0005111	Dilatation of the ascending aorta
OMIM:186580	NOD2	64127	HP:0001139	Choroideremia
OMIM:186580	NOD2	64127	HP:0000006	Autosomal dominant inheritance
OMIM:186580	NOD2	64127	HP:0000083	Renal insufficiency
OMIM:186580	NOD2	64127	HP:0001392	Abnormality of the liver
OMIM:186580	NOD2	64127	HP:0009726	Renal neoplasm
OMIM:186580	NOD2	64127	HP:0001291	Abnormality of the cranial nerves
OMIM:186580	NOD2	64127	HP:0000958	Dry skin
OMIM:186580	NOD2	64127	HP:0000518	Cataract
OMIM:186580	NOD2	64127	HP:0008064	Ichthyosis
OMIM:186580	NOD2	64127	HP:0000988	Skin rash
OMIM:186580	NOD2	64127	HP:0002093	Respiratory insufficiency
OMIM:186580	NOD2	64127	HP:0002011	Morphological abnormality of the central nervous system
OMIM:186580	NOD2	64127	HP:0001034	Hypermelanotic macule
OMIM:186580	NOD2	64127	HP:0004370	Abnormality of temperature regulation
OMIM:186580	NOD2	64127	HP:0001376	Limitation of joint mobility
OMIM:186580	NOD2	64127	HP:0001933	Subcutaneous hemorrhage
OMIM:186580	NOD2	64127	HP:0000112	Nephropathy
OMIM:186580	NOD2	64127	HP:0002633	Vasculitis
OMIM:186580	NOD2	64127	HP:0011505	Cystoid macular edema
OMIM:186580	NOD2	64127	HP:0000964	Eczema
OMIM:186580	NOD2	64127	HP:0001744	Splenomegaly
OMIM:186580	NOD2	64127	HP:0000598	Abnormality of the ear
OMIM:186580	NOD2	64127	HP:0100769	Synovitis
OMIM:186580	NOD2	64127	HP:0002829	Arthralgia
OMIM:186580	NOD2	64127	HP:0000488	Retinopathy
OMIM:186580	NOD2	64127	HP:0010628	Facial palsy
OMIM:186580	NOD2	64127	HP:0000822	Hypertension
OMIM:310490	AIFM1	9131	HP:0000763	Sensory neuropathy
OMIM:310490	AIFM1	9131	HP:0001337	Tremor
OMIM:310490	AIFM1	9131	HP:0002650	Scoliosis
OMIM:310490	AIFM1	9131	HP:0001324	Muscle weakness
OMIM:310490	AIFM1	9131	HP:0001761	Pes cavus
OMIM:310490	AIFM1	9131	HP:0001315	Reduced tendon reflexes
OMIM:310490	AIFM1	9131	HP:0003202	Skeletal muscle atrophy
OMIM:310490	AIFM1	9131	HP:0000407	Sensorineural hearing impairment
OMIM:310490	AIFM1	9131	HP:0002311	Incoordination
OMIM:310490	AIFM1	9131	HP:0000762	Decreased nerve conduction velocity
OMIM:310490	AIFM1	9131	HP:0001249	Intellectual disability
OMIM:310490	AIFM1	9131	HP:0004372	Reduced consciousness/confusion
OMIM:310490	AIFM1	9131	HP:0007328	Impaired pain sensation
OMIM:310490	AIFM1	9131	HP:0100543	Cognitive impairment
OMIM:310490	AIFM1	9131	HP:0003236	Elevated serum creatine phosphokinase
OMIM:310490	AIFM1	9131	HP:0000365	Hearing impairment
OMIM:310490	AIFM1	9131	HP:0002167	Neurological speech impairment
OMIM:310490	AIFM1	9131	HP:0001288	Gait disturbance
OMIM:310490	AIFM1	9131	HP:0001419	X-linked recessive inheritance
OMIM:310490	AIFM1	9131	HP:0002808	Kyphosis
OMIM:613435	TREM2	54209	HP:0002015	Dysphagia
OMIM:613435	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	TREM2	54209	HP:0001260	Dysarthria
OMIM:613435	TREM2	54209	HP:0001308	Tongue fasciculations
OMIM:613435	TREM2	54209	HP:0001324	Muscle weakness
OMIM:613435	VAPB	9217	HP:0002015	Dysphagia
OMIM:613435	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	VAPB	9217	HP:0001260	Dysarthria
OMIM:613435	VAPB	9217	HP:0001308	Tongue fasciculations
OMIM:613435	VAPB	9217	HP:0001324	Muscle weakness
OMIM:613435	PON1	5444	HP:0002015	Dysphagia
OMIM:613435	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	PON1	5444	HP:0001260	Dysarthria
OMIM:613435	PON1	5444	HP:0001308	Tongue fasciculations
OMIM:613435	PON1	5444	HP:0001324	Muscle weakness
OMIM:613435	PON2	5445	HP:0002015	Dysphagia
OMIM:613435	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	PON2	5445	HP:0001260	Dysarthria
OMIM:613435	PON2	5445	HP:0001308	Tongue fasciculations
OMIM:613435	PON2	5445	HP:0001324	Muscle weakness
OMIM:613435	PON3	5446	HP:0002015	Dysphagia
OMIM:613435	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	PON3	5446	HP:0001260	Dysarthria
OMIM:613435	PON3	5446	HP:0001308	Tongue fasciculations
OMIM:613435	PON3	5446	HP:0001324	Muscle weakness
OMIM:613435	NEFH	4744	HP:0002015	Dysphagia
OMIM:613435	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	NEFH	4744	HP:0001260	Dysarthria
OMIM:613435	NEFH	4744	HP:0001308	Tongue fasciculations
OMIM:613435	NEFH	4744	HP:0001324	Muscle weakness
OMIM:613435	DAO	1610	HP:0002015	Dysphagia
OMIM:613435	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	DAO	1610	HP:0001260	Dysarthria
OMIM:613435	DAO	1610	HP:0001308	Tongue fasciculations
OMIM:613435	DAO	1610	HP:0001324	Muscle weakness
OMIM:613435	TARDBP	23435	HP:0002015	Dysphagia
OMIM:613435	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	TARDBP	23435	HP:0001260	Dysarthria
OMIM:613435	TARDBP	23435	HP:0001308	Tongue fasciculations
OMIM:613435	TARDBP	23435	HP:0001324	Muscle weakness
OMIM:613435	PPARGC1A	10891	HP:0002015	Dysphagia
OMIM:613435	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	PPARGC1A	10891	HP:0001260	Dysarthria
OMIM:613435	PPARGC1A	10891	HP:0001308	Tongue fasciculations
OMIM:613435	PPARGC1A	10891	HP:0001324	Muscle weakness
OMIM:613435	ERBB4	2066	HP:0002015	Dysphagia
OMIM:613435	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	ERBB4	2066	HP:0001260	Dysarthria
OMIM:613435	ERBB4	2066	HP:0001308	Tongue fasciculations
OMIM:613435	ERBB4	2066	HP:0001324	Muscle weakness
OMIM:613435	CHCHD10	400916	HP:0002015	Dysphagia
OMIM:613435	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	CHCHD10	400916	HP:0001260	Dysarthria
OMIM:613435	CHCHD10	400916	HP:0001308	Tongue fasciculations
OMIM:613435	CHCHD10	400916	HP:0001324	Muscle weakness
OMIM:613435	OPTN	10133	HP:0002015	Dysphagia
OMIM:613435	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	OPTN	10133	HP:0001260	Dysarthria
OMIM:613435	OPTN	10133	HP:0001308	Tongue fasciculations
OMIM:613435	OPTN	10133	HP:0001324	Muscle weakness
OMIM:613435	FUS	2521	HP:0002015	Dysphagia
OMIM:613435	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	FUS	2521	HP:0001260	Dysarthria
OMIM:613435	FUS	2521	HP:0001308	Tongue fasciculations
OMIM:613435	FUS	2521	HP:0001324	Muscle weakness
OMIM:613435	UBQLN2	29978	HP:0002015	Dysphagia
OMIM:613435	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	UBQLN2	29978	HP:0001260	Dysarthria
OMIM:613435	UBQLN2	29978	HP:0001308	Tongue fasciculations
OMIM:613435	UBQLN2	29978	HP:0001324	Muscle weakness
OMIM:613435	ANG	283	HP:0002015	Dysphagia
OMIM:613435	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	ANG	283	HP:0001260	Dysarthria
OMIM:613435	ANG	283	HP:0001308	Tongue fasciculations
OMIM:613435	ANG	283	HP:0001324	Muscle weakness
OMIM:613435	C9ORF72	203228	HP:0002015	Dysphagia
OMIM:613435	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	C9ORF72	203228	HP:0001260	Dysarthria
OMIM:613435	C9ORF72	203228	HP:0001308	Tongue fasciculations
OMIM:613435	C9ORF72	203228	HP:0001324	Muscle weakness
OMIM:613435	PFN1	5216	HP:0002015	Dysphagia
OMIM:613435	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	PFN1	5216	HP:0001260	Dysarthria
OMIM:613435	PFN1	5216	HP:0001308	Tongue fasciculations
OMIM:613435	PFN1	5216	HP:0001324	Muscle weakness
OMIM:613435	ATXN2	6311	HP:0002015	Dysphagia
OMIM:613435	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	ATXN2	6311	HP:0001260	Dysarthria
OMIM:613435	ATXN2	6311	HP:0001308	Tongue fasciculations
OMIM:613435	ATXN2	6311	HP:0001324	Muscle weakness
OMIM:613435	DCTN1	1639	HP:0002015	Dysphagia
OMIM:613435	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	DCTN1	1639	HP:0001260	Dysarthria
OMIM:613435	DCTN1	1639	HP:0001308	Tongue fasciculations
OMIM:613435	DCTN1	1639	HP:0001324	Muscle weakness
OMIM:613435	FIG4	9896	HP:0002015	Dysphagia
OMIM:613435	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	FIG4	9896	HP:0001260	Dysarthria
OMIM:613435	FIG4	9896	HP:0001308	Tongue fasciculations
OMIM:613435	FIG4	9896	HP:0001324	Muscle weakness
OMIM:613435	HNRNPA1	3178	HP:0002015	Dysphagia
OMIM:613435	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	HNRNPA1	3178	HP:0001260	Dysarthria
OMIM:613435	HNRNPA1	3178	HP:0001308	Tongue fasciculations
OMIM:613435	HNRNPA1	3178	HP:0001324	Muscle weakness
OMIM:613435	SQSTM1	8878	HP:0002015	Dysphagia
OMIM:613435	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	SQSTM1	8878	HP:0001260	Dysarthria
OMIM:613435	SQSTM1	8878	HP:0001308	Tongue fasciculations
OMIM:613435	SQSTM1	8878	HP:0001324	Muscle weakness
OMIM:613435	UNC13A	23025	HP:0002015	Dysphagia
OMIM:613435	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	UNC13A	23025	HP:0001260	Dysarthria
OMIM:613435	UNC13A	23025	HP:0001308	Tongue fasciculations
OMIM:613435	UNC13A	23025	HP:0001324	Muscle weakness
OMIM:613435	MATR3	9782	HP:0002015	Dysphagia
OMIM:613435	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	MATR3	9782	HP:0001260	Dysarthria
OMIM:613435	MATR3	9782	HP:0001308	Tongue fasciculations
OMIM:613435	MATR3	9782	HP:0001324	Muscle weakness
OMIM:613435	TBK1	29110	HP:0002015	Dysphagia
OMIM:613435	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	TBK1	29110	HP:0001260	Dysarthria
OMIM:613435	TBK1	29110	HP:0001308	Tongue fasciculations
OMIM:613435	TBK1	29110	HP:0001324	Muscle weakness
OMIM:613435	SOD1	6647	HP:0002015	Dysphagia
OMIM:613435	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	SOD1	6647	HP:0001260	Dysarthria
OMIM:613435	SOD1	6647	HP:0001308	Tongue fasciculations
OMIM:613435	SOD1	6647	HP:0001324	Muscle weakness
OMIM:613435	VCP	7415	HP:0002015	Dysphagia
OMIM:613435	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	VCP	7415	HP:0001260	Dysarthria
OMIM:613435	VCP	7415	HP:0001308	Tongue fasciculations
OMIM:613435	VCP	7415	HP:0001324	Muscle weakness
OMIM:613435	CHMP2B	25978	HP:0002015	Dysphagia
OMIM:613435	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	CHMP2B	25978	HP:0001260	Dysarthria
OMIM:613435	CHMP2B	25978	HP:0001308	Tongue fasciculations
OMIM:613435	CHMP2B	25978	HP:0001324	Muscle weakness
OMIM:613435	PRPH	5630	HP:0002015	Dysphagia
OMIM:613435	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:613435	PRPH	5630	HP:0001260	Dysarthria
OMIM:613435	PRPH	5630	HP:0001308	Tongue fasciculations
OMIM:613435	PRPH	5630	HP:0001324	Muscle weakness
OMIM:614075	HPS5	11234	HP:0000007	Autosomal recessive inheritance
OMIM:614075	HPS5	11234	HP:0000421	Epistaxis
OMIM:614075	HPS5	11234	HP:0011883	Abnormal platelet granules
OMIM:614075	HPS5	11234	HP:0001022	Albinism
OMIM:614075	HPS5	11234	HP:0001107	Ocular albinism
OMIM:614075	HPS3	84343	HP:0000007	Autosomal recessive inheritance
OMIM:614075	HPS3	84343	HP:0000421	Epistaxis
OMIM:614075	HPS3	84343	HP:0011883	Abnormal platelet granules
OMIM:614075	HPS3	84343	HP:0001022	Albinism
OMIM:614075	HPS3	84343	HP:0001107	Ocular albinism
OMIM:614075	HPS6	79803	HP:0000007	Autosomal recessive inheritance
OMIM:614075	HPS6	79803	HP:0000421	Epistaxis
OMIM:614075	HPS6	79803	HP:0011883	Abnormal platelet granules
OMIM:614075	HPS6	79803	HP:0001022	Albinism
OMIM:614075	HPS6	79803	HP:0001107	Ocular albinism
OMIM:614613	PRKAR1A	5573	HP:0001513	Obesity
OMIM:614613	PRKAR1A	5573	HP:0003196	Short nose
OMIM:614613	PRKAR1A	5573	HP:0009803	Short phalanx of finger
OMIM:614613	PRKAR1A	5573	HP:0005280	Depressed nasal bridge
OMIM:614613	PRKAR1A	5573	HP:0011800	Hypoplasia of midface
OMIM:614613	PRKAR1A	5573	HP:0000047	Hypospadias
OMIM:614613	PRKAR1A	5573	HP:0010743	Short metatarsal
OMIM:614613	PRKAR1A	5573	HP:0001156	Brachydactyly syndrome
OMIM:614613	PRKAR1A	5573	HP:0001511	Intrauterine growth retardation
OMIM:614613	PRKAR1A	5573	HP:0010579	Cone-shaped epiphysis
OMIM:614613	PRKAR1A	5573	HP:0000819	Diabetes mellitus
OMIM:614613	PRKAR1A	5573	HP:0000752	Hyperactivity
OMIM:614613	PRKAR1A	5573	HP:0000272	Malar flattening
OMIM:614613	PRKAR1A	5573	HP:0000006	Autosomal dominant inheritance
OMIM:614613	PRKAR1A	5573	HP:0010049	Short metacarpal
OMIM:614613	PRKAR1A	5573	HP:0005616	Accelerated skeletal maturation
OMIM:614613	PRKAR1A	5573	HP:0001263	Global developmental delay
OMIM:614613	PRKAR1A	5573	HP:0000750	Delayed speech and language development
OMIM:614613	PRKAR1A	5573	HP:0001249	Intellectual disability
OMIM:614613	PRKAR1A	5573	HP:0003577	Congenital onset
OMIM:614613	PRKAR1A	5573	HP:0000463	Anteverted nares
OMIM:614613	PRKAR1A	5573	HP:0000028	Cryptorchidism
OMIM:614613	PRKAR1A	5573	HP:0000635	Blue irides
OMIM:614613	PRKAR1A	5573	HP:0000717	Autism
OMIM:614613	PRKAR1A	5573	HP:0000311	Round face
OMIM:614613	PRKAR1A	5573	HP:0003416	Spinal canal stenosis
OMIM:614613	PDE4D	5144	HP:0001513	Obesity
OMIM:614613	PDE4D	5144	HP:0003196	Short nose
OMIM:614613	PDE4D	5144	HP:0009803	Short phalanx of finger
OMIM:614613	PDE4D	5144	HP:0005280	Depressed nasal bridge
OMIM:614613	PDE4D	5144	HP:0011800	Hypoplasia of midface
OMIM:614613	PDE4D	5144	HP:0000047	Hypospadias
OMIM:614613	PDE4D	5144	HP:0010743	Short metatarsal
OMIM:614613	PDE4D	5144	HP:0001156	Brachydactyly syndrome
OMIM:614613	PDE4D	5144	HP:0001511	Intrauterine growth retardation
OMIM:614613	PDE4D	5144	HP:0010579	Cone-shaped epiphysis
OMIM:614613	PDE4D	5144	HP:0000819	Diabetes mellitus
OMIM:614613	PDE4D	5144	HP:0000752	Hyperactivity
OMIM:614613	PDE4D	5144	HP:0000272	Malar flattening
OMIM:614613	PDE4D	5144	HP:0000006	Autosomal dominant inheritance
OMIM:614613	PDE4D	5144	HP:0010049	Short metacarpal
OMIM:614613	PDE4D	5144	HP:0005616	Accelerated skeletal maturation
OMIM:614613	PDE4D	5144	HP:0001263	Global developmental delay
OMIM:614613	PDE4D	5144	HP:0000750	Delayed speech and language development
OMIM:614613	PDE4D	5144	HP:0001249	Intellectual disability
OMIM:614613	PDE4D	5144	HP:0003577	Congenital onset
OMIM:614613	PDE4D	5144	HP:0000463	Anteverted nares
OMIM:614613	PDE4D	5144	HP:0000028	Cryptorchidism
OMIM:614613	PDE4D	5144	HP:0000635	Blue irides
OMIM:614613	PDE4D	5144	HP:0000717	Autism
OMIM:614613	PDE4D	5144	HP:0000311	Round face
OMIM:614613	PDE4D	5144	HP:0003416	Spinal canal stenosis
OMIM:614750	GFPT1	2673	HP:0000006	Autosomal dominant inheritance
OMIM:614750	GFPT1	2673	HP:0001252	Muscular hypotonia
OMIM:614750	GFPT1	2673	HP:0002650	Scoliosis
OMIM:614750	GFPT1	2673	HP:0003677	Slow progression
OMIM:614750	GFPT1	2673	HP:0003701	Proximal muscle weakness
OMIM:614750	GFPT1	2673	HP:0000007	Autosomal recessive inheritance
OMIM:614750	GFPT1	2673	HP:0001270	Motor delay
OMIM:614750	ALG14	199857	HP:0000006	Autosomal dominant inheritance
OMIM:614750	ALG14	199857	HP:0001252	Muscular hypotonia
OMIM:614750	ALG14	199857	HP:0002650	Scoliosis
OMIM:614750	ALG14	199857	HP:0003677	Slow progression
OMIM:614750	ALG14	199857	HP:0003701	Proximal muscle weakness
OMIM:614750	ALG14	199857	HP:0000007	Autosomal recessive inheritance
OMIM:614750	ALG14	199857	HP:0001270	Motor delay
OMIM:614750	ALG2	85365	HP:0000006	Autosomal dominant inheritance
OMIM:614750	ALG2	85365	HP:0001252	Muscular hypotonia
OMIM:614750	ALG2	85365	HP:0002650	Scoliosis
OMIM:614750	ALG2	85365	HP:0003677	Slow progression
OMIM:614750	ALG2	85365	HP:0003701	Proximal muscle weakness
OMIM:614750	ALG2	85365	HP:0000007	Autosomal recessive inheritance
OMIM:614750	ALG2	85365	HP:0001270	Motor delay
OMIM:614750	DPAGT1	1798	HP:0000006	Autosomal dominant inheritance
OMIM:614750	DPAGT1	1798	HP:0001252	Muscular hypotonia
OMIM:614750	DPAGT1	1798	HP:0002650	Scoliosis
OMIM:614750	DPAGT1	1798	HP:0003677	Slow progression
OMIM:614750	DPAGT1	1798	HP:0003701	Proximal muscle weakness
OMIM:614750	DPAGT1	1798	HP:0000007	Autosomal recessive inheritance
OMIM:614750	DPAGT1	1798	HP:0001270	Motor delay
OMIM:102400	NOTCH2	4853	HP:0000006	Autosomal dominant inheritance
OMIM:102400	NOTCH2	4853	HP:0003621	Juvenile onset
OMIM:102400	NOTCH2	4853	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:607602	KRT10	3858	HP:0000006	Autosomal dominant inheritance
OMIM:607602	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:208400	AGA	175	HP:0004322	Short stature
OMIM:208400	AGA	175	HP:0000943	Dysostosis multiplex
OMIM:208400	AGA	175	HP:0001250	Seizures
OMIM:208400	AGA	175	HP:0002240	Hepatomegaly
OMIM:208400	AGA	175	HP:0000158	Macroglossia
OMIM:208400	AGA	175	HP:0001875	Neutropenia
OMIM:208400	AGA	175	HP:0000053	Macroorchidism
OMIM:208400	AGA	175	HP:0000768	Pectus carinatum
OMIM:208400	AGA	175	HP:0001061	Acne
OMIM:208400	AGA	175	HP:0001537	Umbilical hernia
OMIM:208400	AGA	175	HP:0000212	Gingival overgrowth
OMIM:208400	AGA	175	HP:0001763	Pes planus
OMIM:208400	AGA	175	HP:0000518	Cataract
OMIM:208400	AGA	175	HP:0002205	Recurrent respiratory infections
OMIM:208400	AGA	175	HP:0003196	Short nose
OMIM:208400	AGA	175	HP:0000316	Hypertelorism
OMIM:208400	AGA	175	HP:0000670	Carious teeth
OMIM:208400	AGA	175	HP:0002684	Thickened calvaria
OMIM:208400	AGA	175	HP:0002756	Pathologic fracture
OMIM:208400	AGA	175	HP:0001744	Splenomegaly
OMIM:208400	AGA	175	HP:0002376	Developmental regression
OMIM:208400	AGA	175	HP:0002024	Malabsorption
OMIM:208400	AGA	175	HP:0001609	Hoarse voice
OMIM:208400	AGA	175	HP:0001252	Muscular hypotonia
OMIM:208400	AGA	175	HP:0002014	Diarrhea
OMIM:208400	AGA	175	HP:0000463	Anteverted nares
OMIM:208400	AGA	175	HP:0000248	Brachycephaly
OMIM:208400	AGA	175	HP:0000926	Platyspondyly
OMIM:208400	AGA	175	HP:0100022	Abnormality of movement
OMIM:208400	AGA	175	HP:0003103	Abnormal cortical bone morphology
OMIM:208400	AGA	175	HP:0002808	Kyphosis
OMIM:208400	AGA	175	HP:0002997	Abnormality of the ulna
OMIM:208400	AGA	175	HP:0100729	Large face
OMIM:208400	AGA	175	HP:0000252	Microcephaly
OMIM:208400	AGA	175	HP:0002360	Sleep disturbance
OMIM:208400	AGA	175	HP:0005280	Depressed nasal bridge
OMIM:208400	AGA	175	HP:0001369	Arthritis
OMIM:208400	AGA	175	HP:0001376	Limitation of joint mobility
OMIM:208400	AGA	175	HP:0000179	Thick lower lip vermilion
OMIM:208400	AGA	175	HP:0002167	Neurological speech impairment
OMIM:208400	AGA	175	HP:0001249	Intellectual disability
OMIM:208400	AGA	175	HP:0001653	Mitral regurgitation
OMIM:208400	AGA	175	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:208400	AGA	175	HP:0004493	Craniofacial hyperostosis
OMIM:208400	AGA	175	HP:0000280	Coarse facial features
OMIM:208400	AGA	175	HP:0000154	Wide mouth
OMIM:208400	AGA	175	HP:0002650	Scoliosis
OMIM:208400	AGA	175	HP:0000356	Abnormality of the outer ear
OMIM:208400	AGA	175	HP:0100543	Cognitive impairment
OMIM:208400	AGA	175	HP:0002750	Delayed skeletal maturation
OMIM:208400	AGA	175	HP:0002059	Cerebral atrophy
OMIM:208400	AGA	175	HP:0000157	Abnormality of the tongue
OMIM:208400	AGA	175	HP:0001257	Spasticity
OMIM:208400	AGA	175	HP:0000303	Mandibular prognathia
OMIM:208400	AGA	175	HP:0000388	Otitis media
OMIM:208400	AGA	175	HP:0100790	Hernia
OMIM:208400	AGA	175	HP:0000007	Autosomal recessive inheritance
OMIM:208400	AGA	175	HP:0001388	Joint laxity
OMIM:208400	AGA	175	HP:0000750	Delayed speech and language development
ORPHANET:2136	FAT4	79633	HP:0008572	External ear malformation
ORPHANET:2136	FAT4	79633	HP:0000501	Glaucoma
ORPHANET:2136	FAT4	79633	HP:0000316	Hypertelorism
ORPHANET:2136	FAT4	79633	HP:0002716	Lymphadenopathy
ORPHANET:2136	FAT4	79633	HP:0001541	Ascites
ORPHANET:2136	FAT4	79633	HP:0001999	Abnormal facial shape
ORPHANET:2136	FAT4	79633	HP:0000337	Broad forehead
ORPHANET:2136	FAT4	79633	HP:0001789	Hydrops fetalis
ORPHANET:2136	FAT4	79633	HP:0002901	Hypocalcemia
ORPHANET:2136	FAT4	79633	HP:0000160	Narrow mouth
ORPHANET:2136	FAT4	79633	HP:0001744	Splenomegaly
ORPHANET:2136	FAT4	79633	HP:0000684	Delayed eruption of teeth
ORPHANET:2136	FAT4	79633	HP:0000774	Narrow chest
ORPHANET:2136	FAT4	79633	HP:0002021	Pyloric stenosis
ORPHANET:2136	FAT4	79633	HP:0100835	Benign neoplasm of the central nervous system
ORPHANET:2136	FAT4	79633	HP:0000347	Micrognathia
ORPHANET:2136	FAT4	79633	HP:0004313	Decreased antibody level in blood
ORPHANET:2136	FAT4	79633	HP:0000322	Short philtrum
ORPHANET:2136	FAT4	79633	HP:0000212	Gingival overgrowth
ORPHANET:2136	FAT4	79633	HP:0001250	Seizures
ORPHANET:2136	FAT4	79633	HP:0002024	Malabsorption
ORPHANET:2136	FAT4	79633	HP:0002093	Respiratory insufficiency
ORPHANET:2136	FAT4	79633	HP:0002269	Abnormality of neuronal migration
ORPHANET:2136	FAT4	79633	HP:0001363	Craniosynostosis
ORPHANET:2136	FAT4	79633	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2136	FAT4	79633	HP:0000405	Conductive hearing impairment
ORPHANET:2136	FAT4	79633	HP:0006482	Abnormality of dental morphology
ORPHANET:2136	FAT4	79633	HP:0000078	Abnormality of the genital system
ORPHANET:2136	FAT4	79633	HP:0006101	Finger syndactyly
ORPHANET:2136	FAT4	79633	HP:0100026	Arteriovenous malformation
ORPHANET:2136	FAT4	79633	HP:0100490	Camptodactyly of finger
ORPHANET:2136	FAT4	79633	HP:0000286	Epicanthus
ORPHANET:2136	FAT4	79633	HP:0009804	Reduced number of teeth
ORPHANET:2136	FAT4	79633	HP:0001760	Abnormality of the foot
ORPHANET:2136	FAT4	79633	HP:0100543	Cognitive impairment
ORPHANET:2136	FAT4	79633	HP:0001004	Lymphedema
ORPHANET:2136	FAT4	79633	HP:0002205	Recurrent respiratory infections
ORPHANET:2136	FAT4	79633	HP:0100542	Abnormal localization of kidney
ORPHANET:2136	FAT4	79633	HP:0000272	Malar flattening
ORPHANET:2136	FAT4	79633	HP:0005280	Depressed nasal bridge
ORPHANET:2136	CCBE1	147372	HP:0008572	External ear malformation
ORPHANET:2136	CCBE1	147372	HP:0000501	Glaucoma
ORPHANET:2136	CCBE1	147372	HP:0000316	Hypertelorism
ORPHANET:2136	CCBE1	147372	HP:0002716	Lymphadenopathy
ORPHANET:2136	CCBE1	147372	HP:0001541	Ascites
ORPHANET:2136	CCBE1	147372	HP:0001999	Abnormal facial shape
ORPHANET:2136	CCBE1	147372	HP:0000337	Broad forehead
ORPHANET:2136	CCBE1	147372	HP:0001789	Hydrops fetalis
ORPHANET:2136	CCBE1	147372	HP:0002901	Hypocalcemia
ORPHANET:2136	CCBE1	147372	HP:0000160	Narrow mouth
ORPHANET:2136	CCBE1	147372	HP:0001744	Splenomegaly
ORPHANET:2136	CCBE1	147372	HP:0000684	Delayed eruption of teeth
ORPHANET:2136	CCBE1	147372	HP:0000774	Narrow chest
ORPHANET:2136	CCBE1	147372	HP:0002021	Pyloric stenosis
ORPHANET:2136	CCBE1	147372	HP:0100835	Benign neoplasm of the central nervous system
ORPHANET:2136	CCBE1	147372	HP:0000347	Micrognathia
ORPHANET:2136	CCBE1	147372	HP:0004313	Decreased antibody level in blood
ORPHANET:2136	CCBE1	147372	HP:0000322	Short philtrum
ORPHANET:2136	CCBE1	147372	HP:0000212	Gingival overgrowth
ORPHANET:2136	CCBE1	147372	HP:0001250	Seizures
ORPHANET:2136	CCBE1	147372	HP:0002024	Malabsorption
ORPHANET:2136	CCBE1	147372	HP:0002093	Respiratory insufficiency
ORPHANET:2136	CCBE1	147372	HP:0002269	Abnormality of neuronal migration
ORPHANET:2136	CCBE1	147372	HP:0001363	Craniosynostosis
ORPHANET:2136	CCBE1	147372	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2136	CCBE1	147372	HP:0000405	Conductive hearing impairment
ORPHANET:2136	CCBE1	147372	HP:0006482	Abnormality of dental morphology
ORPHANET:2136	CCBE1	147372	HP:0000078	Abnormality of the genital system
ORPHANET:2136	CCBE1	147372	HP:0006101	Finger syndactyly
ORPHANET:2136	CCBE1	147372	HP:0100026	Arteriovenous malformation
ORPHANET:2136	CCBE1	147372	HP:0100490	Camptodactyly of finger
ORPHANET:2136	CCBE1	147372	HP:0000286	Epicanthus
ORPHANET:2136	CCBE1	147372	HP:0009804	Reduced number of teeth
ORPHANET:2136	CCBE1	147372	HP:0001760	Abnormality of the foot
ORPHANET:2136	CCBE1	147372	HP:0100543	Cognitive impairment
ORPHANET:2136	CCBE1	147372	HP:0001004	Lymphedema
ORPHANET:2136	CCBE1	147372	HP:0002205	Recurrent respiratory infections
ORPHANET:2136	CCBE1	147372	HP:0100542	Abnormal localization of kidney
ORPHANET:2136	CCBE1	147372	HP:0000272	Malar flattening
ORPHANET:2136	CCBE1	147372	HP:0005280	Depressed nasal bridge
OMIM:602096	PSEN2	5664	HP:0003584	Late onset
OMIM:602096	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:602096	SORL1	6653	HP:0003584	Late onset
OMIM:602096	SORL1	6653	HP:0000006	Autosomal dominant inheritance
OMIM:602096	PSEN1	5663	HP:0003584	Late onset
OMIM:602096	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:602096	APP	351	HP:0003584	Late onset
OMIM:602096	APP	351	HP:0000006	Autosomal dominant inheritance
OMIM:613428	RLBP1	6017	HP:0001099	Fundus atrophy
OMIM:613428	RLBP1	6017	HP:0000505	Visual impairment
OMIM:613428	RLBP1	6017	HP:0000512	Abnormal electroretinogram
OMIM:613428	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613428	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613428	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613428	SPATA7	55812	HP:0001099	Fundus atrophy
OMIM:613428	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613428	SPATA7	55812	HP:0000512	Abnormal electroretinogram
OMIM:613428	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613428	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613428	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613428	ARL6	84100	HP:0001099	Fundus atrophy
OMIM:613428	ARL6	84100	HP:0000505	Visual impairment
OMIM:613428	ARL6	84100	HP:0000512	Abnormal electroretinogram
OMIM:613428	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613428	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613428	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613428	CERKL	375298	HP:0001099	Fundus atrophy
OMIM:613428	CERKL	375298	HP:0000505	Visual impairment
OMIM:613428	CERKL	375298	HP:0000512	Abnormal electroretinogram
OMIM:613428	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613428	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613428	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613428	PRPF31	26121	HP:0001099	Fundus atrophy
OMIM:613428	PRPF31	26121	HP:0000505	Visual impairment
OMIM:613428	PRPF31	26121	HP:0000512	Abnormal electroretinogram
OMIM:613428	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613428	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613428	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613428	TTC8	123016	HP:0001099	Fundus atrophy
OMIM:613428	TTC8	123016	HP:0000505	Visual impairment
OMIM:613428	TTC8	123016	HP:0000512	Abnormal electroretinogram
OMIM:613428	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613428	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613428	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613428	PROM1	8842	HP:0001099	Fundus atrophy
OMIM:613428	PROM1	8842	HP:0000505	Visual impairment
OMIM:613428	PROM1	8842	HP:0000512	Abnormal electroretinogram
OMIM:613428	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613428	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613428	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613428	LRAT	9227	HP:0001099	Fundus atrophy
OMIM:613428	LRAT	9227	HP:0000505	Visual impairment
OMIM:613428	LRAT	9227	HP:0000512	Abnormal electroretinogram
OMIM:613428	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613428	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613428	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613428	IFT140	9742	HP:0001099	Fundus atrophy
OMIM:613428	IFT140	9742	HP:0000505	Visual impairment
OMIM:613428	IFT140	9742	HP:0000512	Abnormal electroretinogram
OMIM:613428	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613428	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613428	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613428	BEST1	7439	HP:0001099	Fundus atrophy
OMIM:613428	BEST1	7439	HP:0000505	Visual impairment
OMIM:613428	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:613428	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613428	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613428	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613428	NEK2	4751	HP:0001099	Fundus atrophy
OMIM:613428	NEK2	4751	HP:0000505	Visual impairment
OMIM:613428	NEK2	4751	HP:0000512	Abnormal electroretinogram
OMIM:613428	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613428	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613428	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613428	ARL2BP	23568	HP:0001099	Fundus atrophy
OMIM:613428	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:613428	ARL2BP	23568	HP:0000512	Abnormal electroretinogram
OMIM:613428	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613428	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613428	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613428	NR2E3	10002	HP:0001099	Fundus atrophy
OMIM:613428	NR2E3	10002	HP:0000505	Visual impairment
OMIM:613428	NR2E3	10002	HP:0000512	Abnormal electroretinogram
OMIM:613428	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613428	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613428	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613428	EYS	346007	HP:0001099	Fundus atrophy
OMIM:613428	EYS	346007	HP:0000505	Visual impairment
OMIM:613428	EYS	346007	HP:0000512	Abnormal electroretinogram
OMIM:613428	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613428	EYS	346007	HP:0000662	Nyctalopia
OMIM:613428	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613428	MAK	4117	HP:0001099	Fundus atrophy
OMIM:613428	MAK	4117	HP:0000505	Visual impairment
OMIM:613428	MAK	4117	HP:0000512	Abnormal electroretinogram
OMIM:613428	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613428	MAK	4117	HP:0000662	Nyctalopia
OMIM:613428	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613428	SAG	6295	HP:0001099	Fundus atrophy
OMIM:613428	SAG	6295	HP:0000505	Visual impairment
OMIM:613428	SAG	6295	HP:0000512	Abnormal electroretinogram
OMIM:613428	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613428	SAG	6295	HP:0000662	Nyctalopia
OMIM:613428	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613428	ABCA4	24	HP:0001099	Fundus atrophy
OMIM:613428	ABCA4	24	HP:0000505	Visual impairment
OMIM:613428	ABCA4	24	HP:0000512	Abnormal electroretinogram
OMIM:613428	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613428	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613428	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613428	PDE6A	5145	HP:0001099	Fundus atrophy
OMIM:613428	PDE6A	5145	HP:0000505	Visual impairment
OMIM:613428	PDE6A	5145	HP:0000512	Abnormal electroretinogram
OMIM:613428	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613428	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613428	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613428	PDE6G	5148	HP:0001099	Fundus atrophy
OMIM:613428	PDE6G	5148	HP:0000505	Visual impairment
OMIM:613428	PDE6G	5148	HP:0000512	Abnormal electroretinogram
OMIM:613428	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613428	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613428	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613428	IMPDH1	3614	HP:0001099	Fundus atrophy
OMIM:613428	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613428	IMPDH1	3614	HP:0000512	Abnormal electroretinogram
OMIM:613428	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613428	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613428	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613428	OFD1	8481	HP:0001099	Fundus atrophy
OMIM:613428	OFD1	8481	HP:0000505	Visual impairment
OMIM:613428	OFD1	8481	HP:0000512	Abnormal electroretinogram
OMIM:613428	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613428	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613428	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613428	GUCA1B	2979	HP:0001099	Fundus atrophy
OMIM:613428	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:613428	GUCA1B	2979	HP:0000512	Abnormal electroretinogram
OMIM:613428	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613428	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613428	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613428	NRL	4901	HP:0001099	Fundus atrophy
OMIM:613428	NRL	4901	HP:0000505	Visual impairment
OMIM:613428	NRL	4901	HP:0000512	Abnormal electroretinogram
OMIM:613428	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613428	NRL	4901	HP:0000662	Nyctalopia
OMIM:613428	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613428	PDE6B	5158	HP:0001099	Fundus atrophy
OMIM:613428	PDE6B	5158	HP:0000505	Visual impairment
OMIM:613428	PDE6B	5158	HP:0000512	Abnormal electroretinogram
OMIM:613428	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613428	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613428	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613428	KLHL7	55975	HP:0001099	Fundus atrophy
OMIM:613428	KLHL7	55975	HP:0000505	Visual impairment
OMIM:613428	KLHL7	55975	HP:0000512	Abnormal electroretinogram
OMIM:613428	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613428	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613428	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613428	PRPF4	9128	HP:0001099	Fundus atrophy
OMIM:613428	PRPF4	9128	HP:0000505	Visual impairment
OMIM:613428	PRPF4	9128	HP:0000512	Abnormal electroretinogram
OMIM:613428	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613428	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613428	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613428	PRPF3	9129	HP:0001099	Fundus atrophy
OMIM:613428	PRPF3	9129	HP:0000505	Visual impairment
OMIM:613428	PRPF3	9129	HP:0000512	Abnormal electroretinogram
OMIM:613428	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613428	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613428	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613428	FAM161A	84140	HP:0001099	Fundus atrophy
OMIM:613428	FAM161A	84140	HP:0000505	Visual impairment
OMIM:613428	FAM161A	84140	HP:0000512	Abnormal electroretinogram
OMIM:613428	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613428	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613428	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613428	IFT172	26160	HP:0001099	Fundus atrophy
OMIM:613428	IFT172	26160	HP:0000505	Visual impairment
OMIM:613428	IFT172	26160	HP:0000512	Abnormal electroretinogram
OMIM:613428	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613428	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613428	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613428	KIZ	55857	HP:0001099	Fundus atrophy
OMIM:613428	KIZ	55857	HP:0000505	Visual impairment
OMIM:613428	KIZ	55857	HP:0000512	Abnormal electroretinogram
OMIM:613428	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613428	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613428	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613428	CDHR1	92211	HP:0001099	Fundus atrophy
OMIM:613428	CDHR1	92211	HP:0000505	Visual impairment
OMIM:613428	CDHR1	92211	HP:0000512	Abnormal electroretinogram
OMIM:613428	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613428	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613428	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613428	ZNF408	79797	HP:0001099	Fundus atrophy
OMIM:613428	ZNF408	79797	HP:0000505	Visual impairment
OMIM:613428	ZNF408	79797	HP:0000512	Abnormal electroretinogram
OMIM:613428	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613428	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613428	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613428	RBP3	5949	HP:0001099	Fundus atrophy
OMIM:613428	RBP3	5949	HP:0000505	Visual impairment
OMIM:613428	RBP3	5949	HP:0000512	Abnormal electroretinogram
OMIM:613428	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613428	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613428	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613428	HGSNAT	138050	HP:0001099	Fundus atrophy
OMIM:613428	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:613428	HGSNAT	138050	HP:0000512	Abnormal electroretinogram
OMIM:613428	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613428	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613428	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613428	FSCN2	25794	HP:0001099	Fundus atrophy
OMIM:613428	FSCN2	25794	HP:0000505	Visual impairment
OMIM:613428	FSCN2	25794	HP:0000512	Abnormal electroretinogram
OMIM:613428	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613428	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613428	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613428	PRCD	768206	HP:0001099	Fundus atrophy
OMIM:613428	PRCD	768206	HP:0000505	Visual impairment
OMIM:613428	PRCD	768206	HP:0000512	Abnormal electroretinogram
OMIM:613428	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613428	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613428	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613428	BBS2	583	HP:0001099	Fundus atrophy
OMIM:613428	BBS2	583	HP:0000505	Visual impairment
OMIM:613428	BBS2	583	HP:0000512	Abnormal electroretinogram
OMIM:613428	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613428	BBS2	583	HP:0000662	Nyctalopia
OMIM:613428	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613428	RDH12	145226	HP:0001099	Fundus atrophy
OMIM:613428	RDH12	145226	HP:0000505	Visual impairment
OMIM:613428	RDH12	145226	HP:0000512	Abnormal electroretinogram
OMIM:613428	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613428	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613428	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613428	PRPH2	5961	HP:0001099	Fundus atrophy
OMIM:613428	PRPH2	5961	HP:0000505	Visual impairment
OMIM:613428	PRPH2	5961	HP:0000512	Abnormal electroretinogram
OMIM:613428	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613428	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613428	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613428	DHDDS	79947	HP:0001099	Fundus atrophy
OMIM:613428	DHDDS	79947	HP:0000505	Visual impairment
OMIM:613428	DHDDS	79947	HP:0000512	Abnormal electroretinogram
OMIM:613428	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613428	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613428	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613428	C2ORF71	388939	HP:0001099	Fundus atrophy
OMIM:613428	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:613428	C2ORF71	388939	HP:0000512	Abnormal electroretinogram
OMIM:613428	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613428	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613428	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613428	ROM1	6094	HP:0001099	Fundus atrophy
OMIM:613428	ROM1	6094	HP:0000505	Visual impairment
OMIM:613428	ROM1	6094	HP:0000512	Abnormal electroretinogram
OMIM:613428	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613428	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613428	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613428	RP9	6100	HP:0001099	Fundus atrophy
OMIM:613428	RP9	6100	HP:0000505	Visual impairment
OMIM:613428	RP9	6100	HP:0000512	Abnormal electroretinogram
OMIM:613428	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613428	RP9	6100	HP:0000662	Nyctalopia
OMIM:613428	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613428	PRPF6	24148	HP:0001099	Fundus atrophy
OMIM:613428	PRPF6	24148	HP:0000505	Visual impairment
OMIM:613428	PRPF6	24148	HP:0000512	Abnormal electroretinogram
OMIM:613428	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613428	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613428	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613428	RP1	6101	HP:0001099	Fundus atrophy
OMIM:613428	RP1	6101	HP:0000505	Visual impairment
OMIM:613428	RP1	6101	HP:0000512	Abnormal electroretinogram
OMIM:613428	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613428	RP1	6101	HP:0000662	Nyctalopia
OMIM:613428	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613428	RP2	6102	HP:0001099	Fundus atrophy
OMIM:613428	RP2	6102	HP:0000505	Visual impairment
OMIM:613428	RP2	6102	HP:0000512	Abnormal electroretinogram
OMIM:613428	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613428	RP2	6102	HP:0000662	Nyctalopia
OMIM:613428	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613428	RPGR	6103	HP:0001099	Fundus atrophy
OMIM:613428	RPGR	6103	HP:0000505	Visual impairment
OMIM:613428	RPGR	6103	HP:0000512	Abnormal electroretinogram
OMIM:613428	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613428	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613428	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613428	SEMA4A	64218	HP:0001099	Fundus atrophy
OMIM:613428	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:613428	SEMA4A	64218	HP:0000512	Abnormal electroretinogram
OMIM:613428	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613428	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613428	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613428	C8ORF37	157657	HP:0001099	Fundus atrophy
OMIM:613428	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:613428	C8ORF37	157657	HP:0000512	Abnormal electroretinogram
OMIM:613428	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613428	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613428	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613428	IDH3B	3420	HP:0001099	Fundus atrophy
OMIM:613428	IDH3B	3420	HP:0000505	Visual impairment
OMIM:613428	IDH3B	3420	HP:0000512	Abnormal electroretinogram
OMIM:613428	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613428	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613428	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613428	MERTK	10461	HP:0001099	Fundus atrophy
OMIM:613428	MERTK	10461	HP:0000505	Visual impairment
OMIM:613428	MERTK	10461	HP:0000512	Abnormal electroretinogram
OMIM:613428	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613428	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613428	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613428	PRPF8	10594	HP:0001099	Fundus atrophy
OMIM:613428	PRPF8	10594	HP:0000505	Visual impairment
OMIM:613428	PRPF8	10594	HP:0000512	Abnormal electroretinogram
OMIM:613428	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613428	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613428	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613428	TOPORS	10210	HP:0001099	Fundus atrophy
OMIM:613428	TOPORS	10210	HP:0000505	Visual impairment
OMIM:613428	TOPORS	10210	HP:0000512	Abnormal electroretinogram
OMIM:613428	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613428	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613428	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613428	USH2A	7399	HP:0001099	Fundus atrophy
OMIM:613428	USH2A	7399	HP:0000505	Visual impairment
OMIM:613428	USH2A	7399	HP:0000512	Abnormal electroretinogram
OMIM:613428	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613428	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613428	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613428	RPE65	6121	HP:0001099	Fundus atrophy
OMIM:613428	RPE65	6121	HP:0000505	Visual impairment
OMIM:613428	RPE65	6121	HP:0000512	Abnormal electroretinogram
OMIM:613428	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613428	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613428	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613428	CLRN1	7401	HP:0001099	Fundus atrophy
OMIM:613428	CLRN1	7401	HP:0000505	Visual impairment
OMIM:613428	CLRN1	7401	HP:0000512	Abnormal electroretinogram
OMIM:613428	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613428	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613428	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613428	CNGB1	1258	HP:0001099	Fundus atrophy
OMIM:613428	CNGB1	1258	HP:0000505	Visual impairment
OMIM:613428	CNGB1	1258	HP:0000512	Abnormal electroretinogram
OMIM:613428	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613428	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613428	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613428	RGR	5995	HP:0001099	Fundus atrophy
OMIM:613428	RGR	5995	HP:0000505	Visual impairment
OMIM:613428	RGR	5995	HP:0000512	Abnormal electroretinogram
OMIM:613428	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613428	RGR	5995	HP:0000662	Nyctalopia
OMIM:613428	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613428	CNGA1	1259	HP:0001099	Fundus atrophy
OMIM:613428	CNGA1	1259	HP:0000505	Visual impairment
OMIM:613428	CNGA1	1259	HP:0000512	Abnormal electroretinogram
OMIM:613428	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613428	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613428	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613428	TUB	7275	HP:0001099	Fundus atrophy
OMIM:613428	TUB	7275	HP:0000505	Visual impairment
OMIM:613428	TUB	7275	HP:0000512	Abnormal electroretinogram
OMIM:613428	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613428	TUB	7275	HP:0000662	Nyctalopia
OMIM:613428	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613428	SNRNP200	23020	HP:0001099	Fundus atrophy
OMIM:613428	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:613428	SNRNP200	23020	HP:0000512	Abnormal electroretinogram
OMIM:613428	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613428	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613428	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613428	SLC7A14	57709	HP:0001099	Fundus atrophy
OMIM:613428	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:613428	SLC7A14	57709	HP:0000512	Abnormal electroretinogram
OMIM:613428	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613428	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613428	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613428	TULP1	7287	HP:0001099	Fundus atrophy
OMIM:613428	TULP1	7287	HP:0000505	Visual impairment
OMIM:613428	TULP1	7287	HP:0000512	Abnormal electroretinogram
OMIM:613428	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613428	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613428	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613428	RHO	6010	HP:0001099	Fundus atrophy
OMIM:613428	RHO	6010	HP:0000505	Visual impairment
OMIM:613428	RHO	6010	HP:0000512	Abnormal electroretinogram
OMIM:613428	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613428	RHO	6010	HP:0000662	Nyctalopia
OMIM:613428	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613428	CA4	762	HP:0001099	Fundus atrophy
OMIM:613428	CA4	762	HP:0000505	Visual impairment
OMIM:613428	CA4	762	HP:0000512	Abnormal electroretinogram
OMIM:613428	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613428	CA4	762	HP:0000662	Nyctalopia
OMIM:613428	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613428	CRB1	23418	HP:0001099	Fundus atrophy
OMIM:613428	CRB1	23418	HP:0000505	Visual impairment
OMIM:613428	CRB1	23418	HP:0000512	Abnormal electroretinogram
OMIM:613428	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613428	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613428	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613428	IMPG2	50939	HP:0001099	Fundus atrophy
OMIM:613428	IMPG2	50939	HP:0000505	Visual impairment
OMIM:613428	IMPG2	50939	HP:0000512	Abnormal electroretinogram
OMIM:613428	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613428	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613428	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613428	ZNF513	130557	HP:0001099	Fundus atrophy
OMIM:613428	ZNF513	130557	HP:0000505	Visual impairment
OMIM:613428	ZNF513	130557	HP:0000512	Abnormal electroretinogram
OMIM:613428	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613428	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613428	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613428	CRX	1406	HP:0001099	Fundus atrophy
OMIM:613428	CRX	1406	HP:0000505	Visual impairment
OMIM:613428	CRX	1406	HP:0000512	Abnormal electroretinogram
OMIM:613428	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:613428	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613428	CRX	1406	HP:0000662	Nyctalopia
OMIM:613428	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613428	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:611225	ERLIN2	11160	HP:0000218	High palate
OMIM:611225	ERLIN2	11160	HP:0001288	Gait disturbance
OMIM:611225	ERLIN2	11160	HP:0002079	Hypoplasia of the corpus callosum
OMIM:611225	ERLIN2	11160	HP:0001344	Absent speech
OMIM:611225	ERLIN2	11160	HP:0003677	Slow progression
OMIM:611225	ERLIN2	11160	HP:0006986	Upper limb spasticity
OMIM:611225	ERLIN2	11160	HP:0000007	Autosomal recessive inheritance
OMIM:611225	ERLIN2	11160	HP:0007340	Lower limb muscle weakness
OMIM:611225	ERLIN2	11160	HP:0001249	Intellectual disability
OMIM:611225	ERLIN2	11160	HP:0000486	Strabismus
OMIM:611225	ERLIN2	11160	HP:0003202	Skeletal muscle atrophy
OMIM:611225	ERLIN2	11160	HP:0003487	Babinski sign
OMIM:611225	ERLIN2	11160	HP:0001761	Pes cavus
OMIM:611225	ERLIN2	11160	HP:0001347	Hyperreflexia
OMIM:611225	ERLIN2	11160	HP:0001258	Spastic paraplegia
OMIM:611225	ERLIN2	11160	HP:0001250	Seizures
OMIM:611225	ERLIN2	11160	HP:0002808	Kyphosis
OMIM:611225	ERLIN2	11160	HP:0003676	Progressive
OMIM:611225	ERLIN2	11160	HP:0002650	Scoliosis
OMIM:233650	RAG1	5896	HP:0005403	T lymphocytopenia
OMIM:233650	RAG1	5896	HP:0010976	B lymphocytopenia
OMIM:233650	RAG1	5896	HP:0003593	Infantile onset
OMIM:233650	RAG1	5896	HP:0002205	Recurrent respiratory infections
OMIM:233650	RAG1	5896	HP:0005387	Combined immunodeficiency
OMIM:233650	RAG1	5896	HP:0000007	Autosomal recessive inheritance
OMIM:233650	RAG1	5896	HP:0004315	IgG deficiency
OMIM:233650	RAG2	5897	HP:0005403	T lymphocytopenia
OMIM:233650	RAG2	5897	HP:0010976	B lymphocytopenia
OMIM:233650	RAG2	5897	HP:0003593	Infantile onset
OMIM:233650	RAG2	5897	HP:0002205	Recurrent respiratory infections
OMIM:233650	RAG2	5897	HP:0005387	Combined immunodeficiency
OMIM:233650	RAG2	5897	HP:0000007	Autosomal recessive inheritance
OMIM:233650	RAG2	5897	HP:0004315	IgG deficiency
OMIM:105120	GSN	2934	HP:0001149	Lattice corneal dystrophy
OMIM:105120	GSN	2934	HP:0000083	Renal insufficiency
OMIM:105120	GSN	2934	HP:0000100	Nephrotic syndrome
OMIM:105120	GSN	2934	HP:0003216	Generalized amyloid deposition
OMIM:105120	GSN	2934	HP:0001283	Bulbar palsy
OMIM:105120	GSN	2934	HP:0001638	Cardiomyopathy
OMIM:105120	GSN	2934	HP:0000006	Autosomal dominant inheritance
OMIM:105120	GSN	2934	HP:0001438	Abnormality of the abdomen
OMIM:105120	GSN	2934	HP:0003581	Adult onset
OMIM:105120	GSN	2934	HP:0000973	Cutis laxa
OMIM:105120	GSN	2934	HP:0001271	Polyneuropathy
OMIM:256300	NPHS1	4868	HP:0001518	Small for gestational age
OMIM:256300	NPHS1	4868	HP:0003075	Hypoproteinemia
OMIM:256300	NPHS1	4868	HP:0003678	Rapidly progressive
OMIM:256300	NPHS1	4868	HP:0003270	Abdominal distention
OMIM:256300	NPHS1	4868	HP:0003577	Congenital onset
OMIM:256300	NPHS1	4868	HP:0003073	Hypoalbuminemia
OMIM:256300	NPHS1	4868	HP:0000003	Multicystic kidney dysplasia
OMIM:256300	NPHS1	4868	HP:0000100	Nephrotic syndrome
OMIM:256300	NPHS1	4868	HP:0003077	Hyperlipidemia
OMIM:256300	NPHS1	4868	HP:0000007	Autosomal recessive inheritance
OMIM:256300	NPHS1	4868	HP:0001510	Growth delay
OMIM:256300	NPHS1	4868	HP:0000093	Proteinuria
OMIM:256300	NPHS1	4868	HP:0000821	Hypothyroidism
OMIM:256300	NPHS1	4868	HP:0000969	Edema
OMIM:256300	NPHS1	4868	HP:0002021	Pyloric stenosis
OMIM:256300	NPHS1	4868	HP:0002020	Gastroesophageal reflux
OMIM:256300	NPHS1	4868	HP:0000083	Renal insufficiency
OMIM:256300	NPHS1	4868	HP:0002719	Recurrent infections
OMIM:600316	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:600316	MSRB3	253827	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:600316	BSND	7809	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:600316	ESPN	83715	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:600316	DFNB31	25861	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:600316	OTOA	146183	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:600316	GJA1	2697	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:600316	MET	4233	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:600316	CLDN14	23562	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:600316	HGF	3082	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:600316	PNPT1	87178	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:600316	EPS8	2059	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:600316	MYO3A	53904	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:600316	DCDC2	51473	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:600316	GJB2	2706	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:600316	GJB3	2707	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:600316	CABP2	51475	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:600316	GRXCR2	643226	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:600316	SERPINB6	5269	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:600316	COL11A2	1302	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:600316	CIB2	10518	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:600316	FAM65B	9750	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:600316	KARS	3735	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:600316	LOXHD1	125336	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:600316	TMC1	117531	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:600316	CLIC5	53405	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:600316	OTOF	9381	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:600316	MYO6	4646	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:600316	TMIE	259236	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:600316	MYO7A	4647	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:600316	LRTOMT	220074	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:600316	OTOGL	283310	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:600316	TPRN	286262	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:600316	SLC26A4	5172	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:600316	GJB6	10804	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:600316	DFNB59	494513	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:600316	ESRRB	2103	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:600316	TMPRSS3	64699	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:600316	PTPRQ	374462	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:600316	SLC26A5	375611	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:600316	PCDH15	65217	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:600316	TSPEAR	54084	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:600316	LHFPL5	222662	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:600316	TRIOBP	11078	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:600316	CDH23	64072	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:600316	RDX	5962	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:600316	GPSM2	29899	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:600316	ELMOD3	84173	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:600316	ILDR1	286676	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:600316	GRXCR1	389207	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:600316	MARVELD2	153562	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:600316	STRC	161497	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:600316	SLITRK6	84189	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:600316	TECTA	7007	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:600316	MYO15A	51168	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:600316	USH1C	10083	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:600316	ADCY1	107	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:600316	SYNE4	163183	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:600316	GIPC3	126326	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:600316	TBC1D24	57465	HP:0011476	Profound sensorineural hearing impairment
OMIM:600316	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:600316	OTOG	340990	HP:0011476	Profound sensorineural hearing impairment
OMIM:610852	DNAAF2	55172	HP:0011108	Recurrent sinusitis
OMIM:610852	DNAAF2	55172	HP:0002205	Recurrent respiratory infections
OMIM:610852	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:610852	DNAAF2	55172	HP:0000246	Sinusitis
OMIM:610852	DNAAF2	55172	HP:0012262	Abnormal ciliary motility
OMIM:610852	CCNO	10309	HP:0011108	Recurrent sinusitis
OMIM:610852	CCNO	10309	HP:0002205	Recurrent respiratory infections
OMIM:610852	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:610852	CCNO	10309	HP:0000246	Sinusitis
OMIM:610852	CCNO	10309	HP:0012262	Abnormal ciliary motility
OMIM:610852	DNAAF5	54919	HP:0011108	Recurrent sinusitis
OMIM:610852	DNAAF5	54919	HP:0002205	Recurrent respiratory infections
OMIM:610852	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:610852	DNAAF5	54919	HP:0000246	Sinusitis
OMIM:610852	DNAAF5	54919	HP:0012262	Abnormal ciliary motility
OMIM:610852	DNAAF3	352909	HP:0011108	Recurrent sinusitis
OMIM:610852	DNAAF3	352909	HP:0002205	Recurrent respiratory infections
OMIM:610852	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:610852	DNAAF3	352909	HP:0000246	Sinusitis
OMIM:610852	DNAAF3	352909	HP:0012262	Abnormal ciliary motility
OMIM:610852	DNAI1	27019	HP:0011108	Recurrent sinusitis
OMIM:610852	DNAI1	27019	HP:0002205	Recurrent respiratory infections
OMIM:610852	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:610852	DNAI1	27019	HP:0000246	Sinusitis
OMIM:610852	DNAI1	27019	HP:0012262	Abnormal ciliary motility
OMIM:610852	DRC1	92749	HP:0011108	Recurrent sinusitis
OMIM:610852	DRC1	92749	HP:0002205	Recurrent respiratory infections
OMIM:610852	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:610852	DRC1	92749	HP:0000246	Sinusitis
OMIM:610852	DRC1	92749	HP:0012262	Abnormal ciliary motility
OMIM:610852	SPAG1	6674	HP:0011108	Recurrent sinusitis
OMIM:610852	SPAG1	6674	HP:0002205	Recurrent respiratory infections
OMIM:610852	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:610852	SPAG1	6674	HP:0000246	Sinusitis
OMIM:610852	SPAG1	6674	HP:0012262	Abnormal ciliary motility
OMIM:610852	RSPH3	83861	HP:0011108	Recurrent sinusitis
OMIM:610852	RSPH3	83861	HP:0002205	Recurrent respiratory infections
OMIM:610852	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:610852	RSPH3	83861	HP:0000246	Sinusitis
OMIM:610852	RSPH3	83861	HP:0012262	Abnormal ciliary motility
OMIM:610852	RPGR	6103	HP:0011108	Recurrent sinusitis
OMIM:610852	RPGR	6103	HP:0002205	Recurrent respiratory infections
OMIM:610852	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:610852	RPGR	6103	HP:0000246	Sinusitis
OMIM:610852	RPGR	6103	HP:0012262	Abnormal ciliary motility
OMIM:610852	LRRC6	23639	HP:0011108	Recurrent sinusitis
OMIM:610852	LRRC6	23639	HP:0002205	Recurrent respiratory infections
OMIM:610852	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:610852	LRRC6	23639	HP:0000246	Sinusitis
OMIM:610852	LRRC6	23639	HP:0012262	Abnormal ciliary motility
OMIM:610852	DNAL1	83544	HP:0011108	Recurrent sinusitis
OMIM:610852	DNAL1	83544	HP:0002205	Recurrent respiratory infections
OMIM:610852	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:610852	DNAL1	83544	HP:0000246	Sinusitis
OMIM:610852	DNAL1	83544	HP:0012262	Abnormal ciliary motility
OMIM:610852	ARMC4	55130	HP:0011108	Recurrent sinusitis
OMIM:610852	ARMC4	55130	HP:0002205	Recurrent respiratory infections
OMIM:610852	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:610852	ARMC4	55130	HP:0000246	Sinusitis
OMIM:610852	ARMC4	55130	HP:0012262	Abnormal ciliary motility
OMIM:610852	CCDC103	388389	HP:0011108	Recurrent sinusitis
OMIM:610852	CCDC103	388389	HP:0002205	Recurrent respiratory infections
OMIM:610852	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:610852	CCDC103	388389	HP:0000246	Sinusitis
OMIM:610852	CCDC103	388389	HP:0012262	Abnormal ciliary motility
OMIM:610852	OFD1	8481	HP:0011108	Recurrent sinusitis
OMIM:610852	OFD1	8481	HP:0002205	Recurrent respiratory infections
OMIM:610852	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:610852	OFD1	8481	HP:0000246	Sinusitis
OMIM:610852	OFD1	8481	HP:0012262	Abnormal ciliary motility
OMIM:610852	DNAAF1	123872	HP:0011108	Recurrent sinusitis
OMIM:610852	DNAAF1	123872	HP:0002205	Recurrent respiratory infections
OMIM:610852	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:610852	DNAAF1	123872	HP:0000246	Sinusitis
OMIM:610852	DNAAF1	123872	HP:0012262	Abnormal ciliary motility
OMIM:610852	RSPH4A	345895	HP:0011108	Recurrent sinusitis
OMIM:610852	RSPH4A	345895	HP:0002205	Recurrent respiratory infections
OMIM:610852	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:610852	RSPH4A	345895	HP:0000246	Sinusitis
OMIM:610852	RSPH4A	345895	HP:0012262	Abnormal ciliary motility
OMIM:610852	RSPH1	89765	HP:0011108	Recurrent sinusitis
OMIM:610852	RSPH1	89765	HP:0002205	Recurrent respiratory infections
OMIM:610852	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:610852	RSPH1	89765	HP:0000246	Sinusitis
OMIM:610852	RSPH1	89765	HP:0012262	Abnormal ciliary motility
OMIM:610852	ZMYND10	51364	HP:0011108	Recurrent sinusitis
OMIM:610852	ZMYND10	51364	HP:0002205	Recurrent respiratory infections
OMIM:610852	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:610852	ZMYND10	51364	HP:0000246	Sinusitis
OMIM:610852	ZMYND10	51364	HP:0012262	Abnormal ciliary motility
OMIM:610852	DNAH5	1767	HP:0011108	Recurrent sinusitis
OMIM:610852	DNAH5	1767	HP:0002205	Recurrent respiratory infections
OMIM:610852	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:610852	DNAH5	1767	HP:0000246	Sinusitis
OMIM:610852	DNAH5	1767	HP:0012262	Abnormal ciliary motility
OMIM:610852	CCDC65	85478	HP:0011108	Recurrent sinusitis
OMIM:610852	CCDC65	85478	HP:0002205	Recurrent respiratory infections
OMIM:610852	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:610852	CCDC65	85478	HP:0000246	Sinusitis
OMIM:610852	CCDC65	85478	HP:0012262	Abnormal ciliary motility
OMIM:610852	C21ORF59	56683	HP:0011108	Recurrent sinusitis
OMIM:610852	C21ORF59	56683	HP:0002205	Recurrent respiratory infections
OMIM:610852	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:610852	C21ORF59	56683	HP:0000246	Sinusitis
OMIM:610852	C21ORF59	56683	HP:0012262	Abnormal ciliary motility
OMIM:610852	DYX1C1	161582	HP:0011108	Recurrent sinusitis
OMIM:610852	DYX1C1	161582	HP:0002205	Recurrent respiratory infections
OMIM:610852	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:610852	DYX1C1	161582	HP:0000246	Sinusitis
OMIM:610852	DYX1C1	161582	HP:0012262	Abnormal ciliary motility
OMIM:610852	CCDC151	115948	HP:0011108	Recurrent sinusitis
OMIM:610852	CCDC151	115948	HP:0002205	Recurrent respiratory infections
OMIM:610852	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:610852	CCDC151	115948	HP:0000246	Sinusitis
OMIM:610852	CCDC151	115948	HP:0012262	Abnormal ciliary motility
OMIM:610852	RSPH9	221421	HP:0011108	Recurrent sinusitis
OMIM:610852	RSPH9	221421	HP:0002205	Recurrent respiratory infections
OMIM:610852	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:610852	RSPH9	221421	HP:0000246	Sinusitis
OMIM:610852	RSPH9	221421	HP:0012262	Abnormal ciliary motility
OMIM:610852	CCDC39	339829	HP:0011108	Recurrent sinusitis
OMIM:610852	CCDC39	339829	HP:0002205	Recurrent respiratory infections
OMIM:610852	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:610852	CCDC39	339829	HP:0000246	Sinusitis
OMIM:610852	CCDC39	339829	HP:0012262	Abnormal ciliary motility
OMIM:610852	HYDIN	54768	HP:0011108	Recurrent sinusitis
OMIM:610852	HYDIN	54768	HP:0002205	Recurrent respiratory infections
OMIM:610852	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:610852	HYDIN	54768	HP:0000246	Sinusitis
OMIM:610852	HYDIN	54768	HP:0012262	Abnormal ciliary motility
OMIM:610852	CCDC114	93233	HP:0011108	Recurrent sinusitis
OMIM:610852	CCDC114	93233	HP:0002205	Recurrent respiratory infections
OMIM:610852	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:610852	CCDC114	93233	HP:0000246	Sinusitis
OMIM:610852	CCDC114	93233	HP:0012262	Abnormal ciliary motility
OMIM:610852	NME8	51314	HP:0011108	Recurrent sinusitis
OMIM:610852	NME8	51314	HP:0002205	Recurrent respiratory infections
OMIM:610852	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:610852	NME8	51314	HP:0000246	Sinusitis
OMIM:610852	NME8	51314	HP:0012262	Abnormal ciliary motility
OMIM:610852	CCDC40	55036	HP:0011108	Recurrent sinusitis
OMIM:610852	CCDC40	55036	HP:0002205	Recurrent respiratory infections
OMIM:610852	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:610852	CCDC40	55036	HP:0000246	Sinusitis
OMIM:610852	CCDC40	55036	HP:0012262	Abnormal ciliary motility
OMIM:610852	DNAH11	8701	HP:0011108	Recurrent sinusitis
OMIM:610852	DNAH11	8701	HP:0002205	Recurrent respiratory infections
OMIM:610852	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:610852	DNAH11	8701	HP:0000246	Sinusitis
OMIM:610852	DNAH11	8701	HP:0012262	Abnormal ciliary motility
OMIM:610852	DNAI2	64446	HP:0011108	Recurrent sinusitis
OMIM:610852	DNAI2	64446	HP:0002205	Recurrent respiratory infections
OMIM:610852	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:610852	DNAI2	64446	HP:0000246	Sinusitis
OMIM:610852	DNAI2	64446	HP:0012262	Abnormal ciliary motility
OMIM:610852	GAS8	2622	HP:0011108	Recurrent sinusitis
OMIM:610852	GAS8	2622	HP:0002205	Recurrent respiratory infections
OMIM:610852	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:610852	GAS8	2622	HP:0000246	Sinusitis
OMIM:610852	GAS8	2622	HP:0012262	Abnormal ciliary motility
OMIM:204870	TACSTD2	4070	HP:0001131	Corneal dystrophy
OMIM:204870	TACSTD2	4070	HP:0000613	Photophobia
OMIM:204870	TACSTD2	4070	HP:0007663	Reduced visual acuity
OMIM:204870	TACSTD2	4070	HP:0000505	Visual impairment
OMIM:204870	TACSTD2	4070	HP:0011463	Childhood onset
OMIM:204870	TACSTD2	4070	HP:0000622	Blurred vision
OMIM:204870	TACSTD2	4070	HP:0000007	Autosomal recessive inheritance
OMIM:612075	TYMP	1890	HP:0000544	External ophthalmoplegia
OMIM:612075	TYMP	1890	HP:0003128	Lactic acidosis
OMIM:612075	TYMP	1890	HP:0002066	Gait ataxia
OMIM:612075	TYMP	1890	HP:0001252	Muscular hypotonia
OMIM:612075	TYMP	1890	HP:0001508	Failure to thrive
OMIM:612075	TYMP	1890	HP:0003355	Aminoaciduria
OMIM:612075	TYMP	1890	HP:0001250	Seizures
OMIM:612075	TYMP	1890	HP:0002344	Progressive neurologic deterioration
OMIM:612075	TYMP	1890	HP:0003676	Progressive
OMIM:612075	TYMP	1890	HP:0000007	Autosomal recessive inheritance
OMIM:612075	TYMP	1890	HP:0011968	Feeding difficulties
OMIM:612075	TYMP	1890	HP:0001249	Intellectual disability
OMIM:612075	RRM2B	50484	HP:0000544	External ophthalmoplegia
OMIM:612075	RRM2B	50484	HP:0003128	Lactic acidosis
OMIM:612075	RRM2B	50484	HP:0002066	Gait ataxia
OMIM:612075	RRM2B	50484	HP:0001252	Muscular hypotonia
OMIM:612075	RRM2B	50484	HP:0001508	Failure to thrive
OMIM:612075	RRM2B	50484	HP:0003355	Aminoaciduria
OMIM:612075	RRM2B	50484	HP:0001250	Seizures
OMIM:612075	RRM2B	50484	HP:0002344	Progressive neurologic deterioration
OMIM:612075	RRM2B	50484	HP:0003676	Progressive
OMIM:612075	RRM2B	50484	HP:0000007	Autosomal recessive inheritance
OMIM:612075	RRM2B	50484	HP:0011968	Feeding difficulties
OMIM:612075	RRM2B	50484	HP:0001249	Intellectual disability
OMIM:612075	POLG	5428	HP:0000544	External ophthalmoplegia
OMIM:612075	POLG	5428	HP:0003128	Lactic acidosis
OMIM:612075	POLG	5428	HP:0002066	Gait ataxia
OMIM:612075	POLG	5428	HP:0001252	Muscular hypotonia
OMIM:612075	POLG	5428	HP:0001508	Failure to thrive
OMIM:612075	POLG	5428	HP:0003355	Aminoaciduria
OMIM:612075	POLG	5428	HP:0001250	Seizures
OMIM:612075	POLG	5428	HP:0002344	Progressive neurologic deterioration
OMIM:612075	POLG	5428	HP:0003676	Progressive
OMIM:612075	POLG	5428	HP:0000007	Autosomal recessive inheritance
OMIM:612075	POLG	5428	HP:0011968	Feeding difficulties
OMIM:612075	POLG	5428	HP:0001249	Intellectual disability
OMIM:187360	PTPN22	26191	HP:0001824	Weight loss
OMIM:187360	PTPN22	26191	HP:0001645	Sudden cardiac death
OMIM:187360	PTPN22	26191	HP:0000790	Hematuria
OMIM:187360	PTPN22	26191	HP:0000975	Hyperhidrosis
OMIM:187360	PTPN22	26191	HP:0000405	Conductive hearing impairment
OMIM:187360	PTPN22	26191	HP:0000508	Ptosis
OMIM:187360	PTPN22	26191	HP:0002311	Incoordination
OMIM:187360	PTPN22	26191	HP:0002633	Vasculitis
OMIM:187360	PTPN22	26191	HP:0000873	Diabetes insipidus
OMIM:187360	PTPN22	26191	HP:0001369	Arthritis
OMIM:187360	PTPN22	26191	HP:0002321	Vertigo
OMIM:187360	PTPN22	26191	HP:0000648	Optic atrophy
OMIM:187360	PTPN22	26191	HP:0000597	Ophthalmoparesis
OMIM:187360	PTPN22	26191	HP:0005111	Dilatation of the ascending aorta
OMIM:187360	PTPN22	26191	HP:0002076	Migraine
OMIM:187360	PTPN22	26191	HP:0000708	Behavioral abnormality
OMIM:187360	PTPN22	26191	HP:0001376	Limitation of joint mobility
OMIM:187360	PTPN22	26191	HP:0200042	Skin ulcer
OMIM:187360	PTPN22	26191	HP:0001063	Acrocyanosis
OMIM:187360	PTPN22	26191	HP:0001324	Muscle weakness
OMIM:187360	PTPN22	26191	HP:0000505	Visual impairment
OMIM:187360	PTPN22	26191	HP:0000618	Blindness
OMIM:187360	PTPN22	26191	HP:0100721	Mediastinal lymphadenopathy
OMIM:187360	PTPN22	26191	HP:0001399	Hepatic failure
OMIM:187360	PTPN22	26191	HP:0002829	Arthralgia
OMIM:187360	PTPN22	26191	HP:0004420	Arterial thrombosis
OMIM:187360	PTPN22	26191	HP:0001596	Alopecia
OMIM:187360	PTPN22	26191	HP:0002637	Cerebral ischemia
OMIM:187360	PTPN22	26191	HP:0100576	Amaurosis fugax
OMIM:187360	PTPN22	26191	HP:0000083	Renal insufficiency
OMIM:187360	PTPN22	26191	HP:0000006	Autosomal dominant inheritance
OMIM:187360	PTPN22	26191	HP:0001872	Abnormality of thrombocytes
OMIM:187360	PTPN22	26191	HP:0000639	Nystagmus
OMIM:187360	PTPN22	26191	HP:0001677	Coronary artery disease
OMIM:187360	PTPN22	26191	HP:0004370	Abnormality of temperature regulation
OMIM:187360	PTPN22	26191	HP:0003401	Paresthesia
OMIM:187360	PTPN22	26191	HP:0000421	Epistaxis
OMIM:187360	PTPN22	26191	HP:0001287	Meningitis
OMIM:187360	PTPN22	26191	HP:0003326	Myalgia
OMIM:187360	PTPN22	26191	HP:0002039	Anorexia
OMIM:187360	PTPN22	26191	HP:0002027	Abdominal pain
OMIM:132450	COL2A1	1280	HP:0002857	Genu valgum
OMIM:132450	COL2A1	1280	HP:0005930	Abnormality of epiphysis morphology
OMIM:132450	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:132450	COL2A1	1280	HP:0000272	Malar flattening
OMIM:132450	COL2A1	1280	HP:0002673	Coxa valga
OMIM:132450	COL2A1	1280	HP:0012368	Flat face
OMIM:132450	COL2A1	1280	HP:0000545	Myopia
OMIM:132450	COL2A1	1280	HP:0000160	Narrow mouth
OMIM:132450	COL2A1	1280	HP:0004322	Short stature
OMIM:132450	COL2A1	1280	HP:0000311	Round face
OMIM:132450	COL2A1	1280	HP:0000405	Conductive hearing impairment
OMIM:132450	COL2A1	1280	HP:0001156	Brachydactyly syndrome
OMIM:132450	COL2A1	1280	HP:0009803	Short phalanx of finger
OMIM:132450	COL2A1	1280	HP:0000518	Cataract
OMIM:132450	COL2A1	1280	HP:0001798	Anonychia
OMIM:245150	MGP	4256	HP:0000007	Autosomal recessive inheritance
OMIM:245150	MGP	4256	HP:0001611	Nasal speech
OMIM:245150	MGP	4256	HP:0000400	Macrotia
OMIM:245150	MGP	4256	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:245150	MGP	4256	HP:0002514	Cerebral calcification
OMIM:245150	MGP	4256	HP:0002205	Recurrent respiratory infections
OMIM:245150	MGP	4256	HP:0000276	Long face
OMIM:245150	MGP	4256	HP:0000246	Sinusitis
OMIM:245150	MGP	4256	HP:0009882	Short distal phalanx of finger
OMIM:245150	MGP	4256	HP:0001256	Intellectual disability, mild
OMIM:245150	MGP	4256	HP:0001250	Seizures
OMIM:245150	MGP	4256	HP:0005280	Depressed nasal bridge
OMIM:245150	MGP	4256	HP:0001642	Pulmonic stenosis
OMIM:245150	MGP	4256	HP:0000365	Hearing impairment
OMIM:245150	MGP	4256	HP:0000934	Chondrocalcinosis
OMIM:245150	MGP	4256	HP:0001507	Growth abnormality
OMIM:245150	MGP	4256	HP:0000272	Malar flattening
OMIM:245150	MGP	4256	HP:0011800	Hypoplasia of midface
OMIM:245150	MGP	4256	HP:0000430	Underdeveloped nasal alae
OMIM:245150	MGP	4256	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:245150	MGP	4256	HP:0001629	Ventricular septal defect
OMIM:245150	MGP	4256	HP:0002777	Tracheal stenosis
OMIM:245150	MGP	4256	HP:0004971	Pulmonary artery hypoplasia
OMIM:245150	MGP	4256	HP:0000340	Sloping forehead
OMIM:245150	MGP	4256	HP:0001608	Abnormality of the voice
OMIM:245150	MGP	4256	HP:0009778	Short thumb
OMIM:245150	MGP	4256	HP:0100543	Cognitive impairment
OMIM:245150	MGP	4256	HP:0000973	Cutis laxa
OMIM:245150	MGP	4256	HP:0004322	Short stature
OMIM:245150	MGP	4256	HP:0000648	Optic atrophy
OMIM:245150	MGP	4256	HP:0010109	Short hallux
OMIM:245150	MGP	4256	HP:0000388	Otitis media
OMIM:245150	MGP	4256	HP:0000403	Recurrent otitis media
OMIM:245150	MGP	4256	HP:0011109	Chronic sinusitis
OMIM:245150	MGP	4256	HP:0002837	Recurrent bronchitis
OMIM:245150	MGP	4256	HP:0001596	Alopecia
OMIM:245150	MGP	4256	HP:0010655	Epiphyseal stippling
ORPHANET:2318	ZNF423	23090	HP:0002269	Abnormality of neuronal migration
ORPHANET:2318	ZNF423	23090	HP:0000505	Visual impairment
ORPHANET:2318	ZNF423	23090	HP:0000341	Narrow forehead
ORPHANET:2318	ZNF423	23090	HP:0000238	Hydrocephalus
ORPHANET:2318	ZNF423	23090	HP:0000612	Iris coloboma
ORPHANET:2318	ZNF423	23090	HP:0000112	Nephropathy
ORPHANET:2318	ZNF423	23090	HP:0000486	Strabismus
ORPHANET:2318	ZNF423	23090	HP:0002104	Apnea
ORPHANET:2318	ZNF423	23090	HP:0001250	Seizures
ORPHANET:2318	ZNF423	23090	HP:0000276	Long face
ORPHANET:2318	ZNF423	23090	HP:0002251	Aganglionic megacolon
ORPHANET:2318	ZNF423	23090	HP:0001161	Hand polydactyly
ORPHANET:2318	ZNF423	23090	HP:0000567	Chorioretinal coloboma
ORPHANET:2318	ZNF423	23090	HP:0000639	Nystagmus
ORPHANET:2318	ZNF423	23090	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2318	ZNF423	23090	HP:0001829	Foot polydactyly
ORPHANET:2318	ZNF423	23090	HP:0002311	Incoordination
ORPHANET:2318	ZNF423	23090	HP:0002553	Highly arched eyebrow
ORPHANET:2318	ZNF423	23090	HP:0000463	Anteverted nares
ORPHANET:2318	ZNF423	23090	HP:0001252	Muscular hypotonia
ORPHANET:2318	ZNF423	23090	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2318	ZNF423	23090	HP:0000508	Ptosis
ORPHANET:2318	ZNF423	23090	HP:0000083	Renal insufficiency
ORPHANET:2318	ZNF423	23090	HP:0002650	Scoliosis
ORPHANET:2318	ZNF423	23090	HP:0000426	Prominent nasal bridge
ORPHANET:2318	ZNF423	23090	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2318	ZNF423	23090	HP:0100543	Cognitive impairment
ORPHANET:2318	ZNF423	23090	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2318	ZNF423	23090	HP:0002084	Encephalocele
ORPHANET:2318	TMEM138	51524	HP:0002269	Abnormality of neuronal migration
ORPHANET:2318	TMEM138	51524	HP:0000505	Visual impairment
ORPHANET:2318	TMEM138	51524	HP:0000341	Narrow forehead
ORPHANET:2318	TMEM138	51524	HP:0000238	Hydrocephalus
ORPHANET:2318	TMEM138	51524	HP:0000612	Iris coloboma
ORPHANET:2318	TMEM138	51524	HP:0000112	Nephropathy
ORPHANET:2318	TMEM138	51524	HP:0000486	Strabismus
ORPHANET:2318	TMEM138	51524	HP:0002104	Apnea
ORPHANET:2318	TMEM138	51524	HP:0001250	Seizures
ORPHANET:2318	TMEM138	51524	HP:0000276	Long face
ORPHANET:2318	TMEM138	51524	HP:0002251	Aganglionic megacolon
ORPHANET:2318	TMEM138	51524	HP:0001161	Hand polydactyly
ORPHANET:2318	TMEM138	51524	HP:0000567	Chorioretinal coloboma
ORPHANET:2318	TMEM138	51524	HP:0000639	Nystagmus
ORPHANET:2318	TMEM138	51524	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2318	TMEM138	51524	HP:0001829	Foot polydactyly
ORPHANET:2318	TMEM138	51524	HP:0002311	Incoordination
ORPHANET:2318	TMEM138	51524	HP:0002553	Highly arched eyebrow
ORPHANET:2318	TMEM138	51524	HP:0000463	Anteverted nares
ORPHANET:2318	TMEM138	51524	HP:0001252	Muscular hypotonia
ORPHANET:2318	TMEM138	51524	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2318	TMEM138	51524	HP:0000508	Ptosis
ORPHANET:2318	TMEM138	51524	HP:0000083	Renal insufficiency
ORPHANET:2318	TMEM138	51524	HP:0002650	Scoliosis
ORPHANET:2318	TMEM138	51524	HP:0000426	Prominent nasal bridge
ORPHANET:2318	TMEM138	51524	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2318	TMEM138	51524	HP:0100543	Cognitive impairment
ORPHANET:2318	TMEM138	51524	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2318	TMEM138	51524	HP:0002084	Encephalocele
ORPHANET:2318	TMEM237	65062	HP:0002269	Abnormality of neuronal migration
ORPHANET:2318	TMEM237	65062	HP:0000505	Visual impairment
ORPHANET:2318	TMEM237	65062	HP:0000341	Narrow forehead
ORPHANET:2318	TMEM237	65062	HP:0000238	Hydrocephalus
ORPHANET:2318	TMEM237	65062	HP:0000612	Iris coloboma
ORPHANET:2318	TMEM237	65062	HP:0000112	Nephropathy
ORPHANET:2318	TMEM237	65062	HP:0000486	Strabismus
ORPHANET:2318	TMEM237	65062	HP:0002104	Apnea
ORPHANET:2318	TMEM237	65062	HP:0001250	Seizures
ORPHANET:2318	TMEM237	65062	HP:0000276	Long face
ORPHANET:2318	TMEM237	65062	HP:0002251	Aganglionic megacolon
ORPHANET:2318	TMEM237	65062	HP:0001161	Hand polydactyly
ORPHANET:2318	TMEM237	65062	HP:0000567	Chorioretinal coloboma
ORPHANET:2318	TMEM237	65062	HP:0000639	Nystagmus
ORPHANET:2318	TMEM237	65062	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2318	TMEM237	65062	HP:0001829	Foot polydactyly
ORPHANET:2318	TMEM237	65062	HP:0002311	Incoordination
ORPHANET:2318	TMEM237	65062	HP:0002553	Highly arched eyebrow
ORPHANET:2318	TMEM237	65062	HP:0000463	Anteverted nares
ORPHANET:2318	TMEM237	65062	HP:0001252	Muscular hypotonia
ORPHANET:2318	TMEM237	65062	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2318	TMEM237	65062	HP:0000508	Ptosis
ORPHANET:2318	TMEM237	65062	HP:0000083	Renal insufficiency
ORPHANET:2318	TMEM237	65062	HP:0002650	Scoliosis
ORPHANET:2318	TMEM237	65062	HP:0000426	Prominent nasal bridge
ORPHANET:2318	TMEM237	65062	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2318	TMEM237	65062	HP:0100543	Cognitive impairment
ORPHANET:2318	TMEM237	65062	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2318	TMEM237	65062	HP:0002084	Encephalocele
ORPHANET:2318	CEP290	80184	HP:0002269	Abnormality of neuronal migration
ORPHANET:2318	CEP290	80184	HP:0000505	Visual impairment
ORPHANET:2318	CEP290	80184	HP:0000341	Narrow forehead
ORPHANET:2318	CEP290	80184	HP:0000238	Hydrocephalus
ORPHANET:2318	CEP290	80184	HP:0000612	Iris coloboma
ORPHANET:2318	CEP290	80184	HP:0000112	Nephropathy
ORPHANET:2318	CEP290	80184	HP:0000486	Strabismus
ORPHANET:2318	CEP290	80184	HP:0002104	Apnea
ORPHANET:2318	CEP290	80184	HP:0001250	Seizures
ORPHANET:2318	CEP290	80184	HP:0000276	Long face
ORPHANET:2318	CEP290	80184	HP:0002251	Aganglionic megacolon
ORPHANET:2318	CEP290	80184	HP:0001161	Hand polydactyly
ORPHANET:2318	CEP290	80184	HP:0000567	Chorioretinal coloboma
ORPHANET:2318	CEP290	80184	HP:0000639	Nystagmus
ORPHANET:2318	CEP290	80184	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2318	CEP290	80184	HP:0001829	Foot polydactyly
ORPHANET:2318	CEP290	80184	HP:0002311	Incoordination
ORPHANET:2318	CEP290	80184	HP:0002553	Highly arched eyebrow
ORPHANET:2318	CEP290	80184	HP:0000463	Anteverted nares
ORPHANET:2318	CEP290	80184	HP:0001252	Muscular hypotonia
ORPHANET:2318	CEP290	80184	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2318	CEP290	80184	HP:0000508	Ptosis
ORPHANET:2318	CEP290	80184	HP:0000083	Renal insufficiency
ORPHANET:2318	CEP290	80184	HP:0002650	Scoliosis
ORPHANET:2318	CEP290	80184	HP:0000426	Prominent nasal bridge
ORPHANET:2318	CEP290	80184	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2318	CEP290	80184	HP:0100543	Cognitive impairment
ORPHANET:2318	CEP290	80184	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2318	CEP290	80184	HP:0002084	Encephalocele
ORPHANET:2318	CC2D2A	57545	HP:0002269	Abnormality of neuronal migration
ORPHANET:2318	CC2D2A	57545	HP:0000505	Visual impairment
ORPHANET:2318	CC2D2A	57545	HP:0000341	Narrow forehead
ORPHANET:2318	CC2D2A	57545	HP:0000238	Hydrocephalus
ORPHANET:2318	CC2D2A	57545	HP:0000612	Iris coloboma
ORPHANET:2318	CC2D2A	57545	HP:0000112	Nephropathy
ORPHANET:2318	CC2D2A	57545	HP:0000486	Strabismus
ORPHANET:2318	CC2D2A	57545	HP:0002104	Apnea
ORPHANET:2318	CC2D2A	57545	HP:0001250	Seizures
ORPHANET:2318	CC2D2A	57545	HP:0000276	Long face
ORPHANET:2318	CC2D2A	57545	HP:0002251	Aganglionic megacolon
ORPHANET:2318	CC2D2A	57545	HP:0001161	Hand polydactyly
ORPHANET:2318	CC2D2A	57545	HP:0000567	Chorioretinal coloboma
ORPHANET:2318	CC2D2A	57545	HP:0000639	Nystagmus
ORPHANET:2318	CC2D2A	57545	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2318	CC2D2A	57545	HP:0001829	Foot polydactyly
ORPHANET:2318	CC2D2A	57545	HP:0002311	Incoordination
ORPHANET:2318	CC2D2A	57545	HP:0002553	Highly arched eyebrow
ORPHANET:2318	CC2D2A	57545	HP:0000463	Anteverted nares
ORPHANET:2318	CC2D2A	57545	HP:0001252	Muscular hypotonia
ORPHANET:2318	CC2D2A	57545	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2318	CC2D2A	57545	HP:0000508	Ptosis
ORPHANET:2318	CC2D2A	57545	HP:0000083	Renal insufficiency
ORPHANET:2318	CC2D2A	57545	HP:0002650	Scoliosis
ORPHANET:2318	CC2D2A	57545	HP:0000426	Prominent nasal bridge
ORPHANET:2318	CC2D2A	57545	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2318	CC2D2A	57545	HP:0100543	Cognitive impairment
ORPHANET:2318	CC2D2A	57545	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2318	CC2D2A	57545	HP:0002084	Encephalocele
ORPHANET:2318	TMEM216	51259	HP:0002269	Abnormality of neuronal migration
ORPHANET:2318	TMEM216	51259	HP:0000505	Visual impairment
ORPHANET:2318	TMEM216	51259	HP:0000341	Narrow forehead
ORPHANET:2318	TMEM216	51259	HP:0000238	Hydrocephalus
ORPHANET:2318	TMEM216	51259	HP:0000612	Iris coloboma
ORPHANET:2318	TMEM216	51259	HP:0000112	Nephropathy
ORPHANET:2318	TMEM216	51259	HP:0000486	Strabismus
ORPHANET:2318	TMEM216	51259	HP:0002104	Apnea
ORPHANET:2318	TMEM216	51259	HP:0001250	Seizures
ORPHANET:2318	TMEM216	51259	HP:0000276	Long face
ORPHANET:2318	TMEM216	51259	HP:0002251	Aganglionic megacolon
ORPHANET:2318	TMEM216	51259	HP:0001161	Hand polydactyly
ORPHANET:2318	TMEM216	51259	HP:0000567	Chorioretinal coloboma
ORPHANET:2318	TMEM216	51259	HP:0000639	Nystagmus
ORPHANET:2318	TMEM216	51259	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2318	TMEM216	51259	HP:0001829	Foot polydactyly
ORPHANET:2318	TMEM216	51259	HP:0002311	Incoordination
ORPHANET:2318	TMEM216	51259	HP:0002553	Highly arched eyebrow
ORPHANET:2318	TMEM216	51259	HP:0000463	Anteverted nares
ORPHANET:2318	TMEM216	51259	HP:0001252	Muscular hypotonia
ORPHANET:2318	TMEM216	51259	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2318	TMEM216	51259	HP:0000508	Ptosis
ORPHANET:2318	TMEM216	51259	HP:0000083	Renal insufficiency
ORPHANET:2318	TMEM216	51259	HP:0002650	Scoliosis
ORPHANET:2318	TMEM216	51259	HP:0000426	Prominent nasal bridge
ORPHANET:2318	TMEM216	51259	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2318	TMEM216	51259	HP:0100543	Cognitive impairment
ORPHANET:2318	TMEM216	51259	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2318	TMEM216	51259	HP:0002084	Encephalocele
ORPHANET:2318	TMEM231	79583	HP:0002269	Abnormality of neuronal migration
ORPHANET:2318	TMEM231	79583	HP:0000505	Visual impairment
ORPHANET:2318	TMEM231	79583	HP:0000341	Narrow forehead
ORPHANET:2318	TMEM231	79583	HP:0000238	Hydrocephalus
ORPHANET:2318	TMEM231	79583	HP:0000612	Iris coloboma
ORPHANET:2318	TMEM231	79583	HP:0000112	Nephropathy
ORPHANET:2318	TMEM231	79583	HP:0000486	Strabismus
ORPHANET:2318	TMEM231	79583	HP:0002104	Apnea
ORPHANET:2318	TMEM231	79583	HP:0001250	Seizures
ORPHANET:2318	TMEM231	79583	HP:0000276	Long face
ORPHANET:2318	TMEM231	79583	HP:0002251	Aganglionic megacolon
ORPHANET:2318	TMEM231	79583	HP:0001161	Hand polydactyly
ORPHANET:2318	TMEM231	79583	HP:0000567	Chorioretinal coloboma
ORPHANET:2318	TMEM231	79583	HP:0000639	Nystagmus
ORPHANET:2318	TMEM231	79583	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2318	TMEM231	79583	HP:0001829	Foot polydactyly
ORPHANET:2318	TMEM231	79583	HP:0002311	Incoordination
ORPHANET:2318	TMEM231	79583	HP:0002553	Highly arched eyebrow
ORPHANET:2318	TMEM231	79583	HP:0000463	Anteverted nares
ORPHANET:2318	TMEM231	79583	HP:0001252	Muscular hypotonia
ORPHANET:2318	TMEM231	79583	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2318	TMEM231	79583	HP:0000508	Ptosis
ORPHANET:2318	TMEM231	79583	HP:0000083	Renal insufficiency
ORPHANET:2318	TMEM231	79583	HP:0002650	Scoliosis
ORPHANET:2318	TMEM231	79583	HP:0000426	Prominent nasal bridge
ORPHANET:2318	TMEM231	79583	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2318	TMEM231	79583	HP:0100543	Cognitive impairment
ORPHANET:2318	TMEM231	79583	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHANET:2318	TMEM231	79583	HP:0002084	Encephalocele
OMIM:608799	DPM1	8813	HP:0012385	Camptodactyly
OMIM:608799	DPM1	8813	HP:0001009	Telangiectasia
OMIM:608799	DPM1	8813	HP:0001250	Seizures
OMIM:608799	DPM1	8813	HP:0009824	Upper limb undergrowth
OMIM:608799	DPM1	8813	HP:0001337	Tremor
OMIM:608799	DPM1	8813	HP:0001508	Failure to thrive
OMIM:608799	DPM1	8813	HP:0000648	Optic atrophy
OMIM:608799	DPM1	8813	HP:0002910	Elevated hepatic transaminases
OMIM:608799	DPM1	8813	HP:0000316	Hypertelorism
OMIM:608799	DPM1	8813	HP:0005469	Flat occiput
OMIM:608799	DPM1	8813	HP:0001643	Patent ductus arteriosus
OMIM:608799	DPM1	8813	HP:0001744	Splenomegaly
OMIM:608799	DPM1	8813	HP:0002240	Hepatomegaly
OMIM:608799	DPM1	8813	HP:0003560	Muscular dystrophy
OMIM:608799	DPM1	8813	HP:0001028	Hemangioma
OMIM:608799	DPM1	8813	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608799	DPM1	8813	HP:0000347	Micrognathia
OMIM:608799	DPM1	8813	HP:0000488	Retinopathy
OMIM:608799	DPM1	8813	HP:0100704	Cortical visual impairment
OMIM:608799	DPM1	8813	HP:0000494	Downslanted palpebral fissures
OMIM:608799	DPM1	8813	HP:0005484	Postnatal microcephaly
OMIM:608799	DPM1	8813	HP:0011344	Severe global developmental delay
OMIM:608799	DPM1	8813	HP:0003828	Variable expressivity
OMIM:608799	DPM1	8813	HP:0006380	Knee flexion contracture
OMIM:608799	DPM1	8813	HP:0001103	Abnormality of the macula
OMIM:608799	DPM1	8813	HP:0002164	Nail dysplasia
OMIM:608799	DPM1	8813	HP:0001252	Muscular hypotonia
OMIM:608799	DPM1	8813	HP:0003676	Progressive
OMIM:608799	DPM1	8813	HP:0000486	Strabismus
OMIM:608799	DPM1	8813	HP:0000639	Nystagmus
OMIM:608799	DPM1	8813	HP:0006466	Ankle contracture
OMIM:608799	DPM1	8813	HP:0200055	Small hand
OMIM:608799	DPM1	8813	HP:0000007	Autosomal recessive inheritance
OMIM:608799	DPM1	8813	HP:0000319	Smooth philtrum
OMIM:608799	DPM1	8813	HP:0000252	Microcephaly
OMIM:608799	DPM1	8813	HP:0002098	Respiratory distress
OMIM:608799	DPM1	8813	HP:0100543	Cognitive impairment
OMIM:608799	DPM1	8813	HP:0001251	Ataxia
OMIM:608799	DPM1	8813	HP:0002353	EEG abnormality
OMIM:608799	DPM1	8813	HP:0004279	Short palm
OMIM:608799	DPM1	8813	HP:0003593	Infantile onset
OMIM:608799	DPM1	8813	HP:0005280	Depressed nasal bridge
OMIM:165199	OPA1	4976	HP:0000408	Progressive sensorineural hearing impairment
OMIM:165199	OPA1	4976	HP:0000006	Autosomal dominant inheritance
OMIM:165199	OPA1	4976	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:165199	OPA1	4976	HP:0000648	Optic atrophy
OMIM:165199	OPA1	4976	HP:0000505	Visual impairment
OMIM:600512	RELN	5649	HP:0003829	Incomplete penetrance
OMIM:600512	RELN	5649	HP:0007334	Bilateral convulsive seizures
OMIM:600512	RELN	5649	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:600512	RELN	5649	HP:0000006	Autosomal dominant inheritance
OMIM:600512	DEPDC5	9681	HP:0003829	Incomplete penetrance
OMIM:600512	DEPDC5	9681	HP:0007334	Bilateral convulsive seizures
OMIM:600512	DEPDC5	9681	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:600512	DEPDC5	9681	HP:0000006	Autosomal dominant inheritance
OMIM:600512	LGI1	9211	HP:0003829	Incomplete penetrance
OMIM:600512	LGI1	9211	HP:0007334	Bilateral convulsive seizures
OMIM:600512	LGI1	9211	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:600512	LGI1	9211	HP:0000006	Autosomal dominant inheritance
OMIM:300604	POF1B	79983	HP:0000164	Abnormality of the teeth
OMIM:300604	POF1B	79983	HP:0000098	Tall stature
OMIM:300604	POF1B	79983	HP:0000786	Primary amenorrhea
OMIM:300604	POF1B	79983	HP:0000939	Osteoporosis
OMIM:614120	HYLS1	219844	HP:0000238	Hydrocephalus
OMIM:614120	HYLS1	219844	HP:0000175	Cleft palate
OMIM:614120	HYLS1	219844	HP:0100259	Postaxial polydactyly
OMIM:614120	HYLS1	219844	HP:0000347	Micrognathia
OMIM:614120	HYLS1	219844	HP:0001274	Agenesis of corpus callosum
OMIM:614120	HYLS1	219844	HP:0002119	Ventriculomegaly
OMIM:614120	HYLS1	219844	HP:0002419	Molar tooth sign on MRI
OMIM:614120	HYLS1	219844	HP:0002323	Anencephaly
OMIM:614120	HYLS1	219844	HP:0000007	Autosomal recessive inheritance
OMIM:614120	HYLS1	219844	HP:0100258	Preaxial polydactyly
OMIM:614120	KIF7	374654	HP:0000238	Hydrocephalus
OMIM:614120	KIF7	374654	HP:0000175	Cleft palate
OMIM:614120	KIF7	374654	HP:0100259	Postaxial polydactyly
OMIM:614120	KIF7	374654	HP:0000347	Micrognathia
OMIM:614120	KIF7	374654	HP:0001274	Agenesis of corpus callosum
OMIM:614120	KIF7	374654	HP:0002119	Ventriculomegaly
OMIM:614120	KIF7	374654	HP:0002419	Molar tooth sign on MRI
OMIM:614120	KIF7	374654	HP:0002323	Anencephaly
OMIM:614120	KIF7	374654	HP:0000007	Autosomal recessive inheritance
OMIM:614120	KIF7	374654	HP:0100258	Preaxial polydactyly
OMIM:614417	CPA6	57094	HP:0000006	Autosomal dominant inheritance
OMIM:614417	CPA6	57094	HP:0001250	Seizures
OMIM:615057	UBE3B	89910	HP:0000347	Micrognathia
OMIM:615057	UBE3B	89910	HP:0001374	Congenital hip dislocation
OMIM:615057	UBE3B	89910	HP:0000377	Abnormality of the pinna
OMIM:615057	UBE3B	89910	HP:0008070	Sparse hair
OMIM:615057	UBE3B	89910	HP:0000316	Hypertelorism
OMIM:615057	UBE3B	89910	HP:0000463	Anteverted nares
OMIM:615057	UBE3B	89910	HP:0001344	Absent speech
OMIM:615057	UBE3B	89910	HP:0002719	Recurrent infections
OMIM:615057	UBE3B	89910	HP:0004322	Short stature
OMIM:615057	UBE3B	89910	HP:0001680	Coarctation of aorta
OMIM:615057	UBE3B	89910	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615057	UBE3B	89910	HP:0000963	Thin skin
OMIM:615057	UBE3B	89910	HP:0011968	Feeding difficulties
OMIM:615057	UBE3B	89910	HP:0000160	Narrow mouth
OMIM:615057	UBE3B	89910	HP:0000486	Strabismus
OMIM:615057	UBE3B	89910	HP:0000545	Myopia
OMIM:615057	UBE3B	89910	HP:0001601	Laryngomalacia
OMIM:615057	UBE3B	89910	HP:0005280	Depressed nasal bridge
OMIM:615057	UBE3B	89910	HP:0002019	Constipation
OMIM:615057	UBE3B	89910	HP:0000252	Microcephaly
OMIM:615057	UBE3B	89910	HP:0000369	Low-set ears
OMIM:615057	UBE3B	89910	HP:0001270	Motor delay
OMIM:615057	UBE3B	89910	HP:0001508	Failure to thrive
OMIM:615057	UBE3B	89910	HP:0000007	Autosomal recessive inheritance
OMIM:615057	UBE3B	89910	HP:0001252	Muscular hypotonia
OMIM:615057	UBE3B	89910	HP:0000581	Blepharophimosis
OMIM:615057	UBE3B	89910	HP:0000006	Autosomal dominant inheritance
OMIM:615057	UBE3B	89910	HP:0000483	Astigmatism
OMIM:615057	UBE3B	89910	HP:0001631	Atria septal defect
OMIM:615057	UBE3B	89910	HP:0002119	Ventriculomegaly
OMIM:615057	UBE3B	89910	HP:0000508	Ptosis
OMIM:615057	UBE3B	89910	HP:0000506	Telecanthus
OMIM:615057	UBE3B	89910	HP:0002566	Intestinal malrotation
OMIM:615057	UBE3B	89910	HP:0000964	Eczema
OMIM:615057	UBE3B	89910	HP:0010864	Intellectual disability, severe
OMIM:169100	TFAP2B	7021	HP:0001256	Intellectual disability, mild
OMIM:169100	TFAP2B	7021	HP:0000316	Hypertelorism
OMIM:169100	TFAP2B	7021	HP:0000006	Autosomal dominant inheritance
OMIM:169100	TFAP2B	7021	HP:0000369	Low-set ears
OMIM:169100	TFAP2B	7021	HP:0004209	Clinodactyly of the 5th finger
OMIM:169100	TFAP2B	7021	HP:0001161	Hand polydactyly
OMIM:169100	TFAP2B	7021	HP:0000365	Hearing impairment
OMIM:169100	TFAP2B	7021	HP:0100543	Cognitive impairment
OMIM:169100	TFAP2B	7021	HP:0000486	Strabismus
OMIM:169100	TFAP2B	7021	HP:0000272	Malar flattening
OMIM:169100	TFAP2B	7021	HP:0005280	Depressed nasal bridge
OMIM:169100	TFAP2B	7021	HP:0000494	Downslanted palpebral fissures
OMIM:169100	TFAP2B	7021	HP:0001829	Foot polydactyly
OMIM:169100	TFAP2B	7021	HP:0000545	Myopia
OMIM:169100	TFAP2B	7021	HP:0000269	Prominent occiput
OMIM:169100	TFAP2B	7021	HP:0002553	Highly arched eyebrow
OMIM:169100	TFAP2B	7021	HP:0000508	Ptosis
OMIM:169100	TFAP2B	7021	HP:0009804	Reduced number of teeth
OMIM:169100	TFAP2B	7021	HP:0000322	Short philtrum
OMIM:169100	TFAP2B	7021	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:169100	TFAP2B	7021	HP:0000232	Everted lower lip vermilion
OMIM:169100	TFAP2B	7021	HP:0001643	Patent ductus arteriosus
OMIM:169100	TFAP2B	7021	HP:0002558	Supernumerary nipple
OMIM:169100	TFAP2B	7021	HP:0000207	Triangular mouth
OMIM:169100	TFAP2B	7021	HP:0004372	Reduced consciousness/confusion
OMIM:169100	TFAP2B	7021	HP:0000457	Depressed nasal ridge
OMIM:169100	TFAP2B	7021	HP:0000411	Protruding ear
OMIM:169100	TFAP2B	7021	HP:0000179	Thick lower lip vermilion
OMIM:169100	TFAP2B	7021	HP:0000455	Broad nasal tip
OMIM:169100	TFAP2B	7021	HP:0001770	Toe syndactyly
OMIM:169100	TFAP2B	7021	HP:0001629	Ventricular septal defect
OMIM:169100	TFAP2B	7021	HP:0000337	Broad forehead
OMIM:169100	TFAP2B	7021	HP:0000574	Thick eyebrow
OMIM:613558	DIAPH1	1729	HP:0003676	Progressive
OMIM:613558	DIAPH1	1729	HP:0000365	Hearing impairment
OMIM:613558	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:613558	CEACAM16	388551	HP:0003676	Progressive
OMIM:613558	CEACAM16	388551	HP:0000365	Hearing impairment
OMIM:613558	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:613558	SLC17A8	246213	HP:0003676	Progressive
OMIM:613558	SLC17A8	246213	HP:0000365	Hearing impairment
OMIM:613558	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:613558	TJP2	9414	HP:0003676	Progressive
OMIM:613558	TJP2	9414	HP:0000365	Hearing impairment
OMIM:613558	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:613558	ACTG1	71	HP:0003676	Progressive
OMIM:613558	ACTG1	71	HP:0000365	Hearing impairment
OMIM:613558	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:613558	CCDC50	152137	HP:0003676	Progressive
OMIM:613558	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:613558	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:613558	MIR96	407053	HP:0003676	Progressive
OMIM:613558	MIR96	407053	HP:0000365	Hearing impairment
OMIM:613558	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:613558	GJB2	2706	HP:0003676	Progressive
OMIM:613558	GJB2	2706	HP:0000365	Hearing impairment
OMIM:613558	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:613558	POU4F3	5459	HP:0003676	Progressive
OMIM:613558	POU4F3	5459	HP:0000365	Hearing impairment
OMIM:613558	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:613558	GJB3	2707	HP:0003676	Progressive
OMIM:613558	GJB3	2707	HP:0000365	Hearing impairment
OMIM:613558	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:613558	MYH9	4627	HP:0003676	Progressive
OMIM:613558	MYH9	4627	HP:0000365	Hearing impairment
OMIM:613558	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:613558	CRYM	1428	HP:0003676	Progressive
OMIM:613558	CRYM	1428	HP:0000365	Hearing impairment
OMIM:613558	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:613558	COL11A2	1302	HP:0003676	Progressive
OMIM:613558	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:613558	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:613558	EYA4	2070	HP:0003676	Progressive
OMIM:613558	EYA4	2070	HP:0000365	Hearing impairment
OMIM:613558	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:613558	DFNA5	1687	HP:0003676	Progressive
OMIM:613558	DFNA5	1687	HP:0000365	Hearing impairment
OMIM:613558	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:613558	DIAPH3	81624	HP:0003676	Progressive
OMIM:613558	DIAPH3	81624	HP:0000365	Hearing impairment
OMIM:613558	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:613558	TMC1	117531	HP:0003676	Progressive
OMIM:613558	TMC1	117531	HP:0000365	Hearing impairment
OMIM:613558	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:613558	COCH	1690	HP:0003676	Progressive
OMIM:613558	COCH	1690	HP:0000365	Hearing impairment
OMIM:613558	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:613558	OSBPL2	9885	HP:0003676	Progressive
OMIM:613558	OSBPL2	9885	HP:0000365	Hearing impairment
OMIM:613558	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:613558	SIX1	6495	HP:0003676	Progressive
OMIM:613558	SIX1	6495	HP:0000365	Hearing impairment
OMIM:613558	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:613558	TECTA	7007	HP:0003676	Progressive
OMIM:613558	TECTA	7007	HP:0000365	Hearing impairment
OMIM:613558	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:613558	MYO1A	4640	HP:0003676	Progressive
OMIM:613558	MYO1A	4640	HP:0000365	Hearing impairment
OMIM:613558	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:613558	MYO1C	4641	HP:0003676	Progressive
OMIM:613558	MYO1C	4641	HP:0000365	Hearing impairment
OMIM:613558	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:613558	MYO6	4646	HP:0003676	Progressive
OMIM:613558	MYO6	4646	HP:0000365	Hearing impairment
OMIM:613558	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:613558	MYO7A	4647	HP:0003676	Progressive
OMIM:613558	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:613558	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:613558	GRHL2	79977	HP:0003676	Progressive
OMIM:613558	GRHL2	79977	HP:0000365	Hearing impairment
OMIM:613558	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:613558	DIABLO	56616	HP:0003676	Progressive
OMIM:613558	DIABLO	56616	HP:0000365	Hearing impairment
OMIM:613558	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:613558	MYH14	79784	HP:0003676	Progressive
OMIM:613558	MYH14	79784	HP:0000365	Hearing impairment
OMIM:613558	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:613558	P2RX2	22953	HP:0003676	Progressive
OMIM:613558	P2RX2	22953	HP:0000365	Hearing impairment
OMIM:613558	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:613558	WFS1	7466	HP:0003676	Progressive
OMIM:613558	WFS1	7466	HP:0000365	Hearing impairment
OMIM:613558	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:613558	TNC	3371	HP:0003676	Progressive
OMIM:613558	TNC	3371	HP:0000365	Hearing impairment
OMIM:613558	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:613558	KCNQ4	9132	HP:0003676	Progressive
OMIM:613558	KCNQ4	9132	HP:0000365	Hearing impairment
OMIM:613558	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:613558	HOMER2	9455	HP:0003676	Progressive
OMIM:613558	HOMER2	9455	HP:0000365	Hearing impairment
OMIM:613558	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:613558	GJB6	10804	HP:0003676	Progressive
OMIM:613558	GJB6	10804	HP:0000365	Hearing impairment
OMIM:613558	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:613558	TBC1D24	57465	HP:0003676	Progressive
OMIM:613558	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:613558	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:608372	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:608372	DIAPH1	1729	HP:0003621	Juvenile onset
OMIM:608372	DIAPH1	1729	HP:0001730	Progressive hearing impairment
OMIM:608372	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:608372	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:608372	CEACAM16	388551	HP:0003621	Juvenile onset
OMIM:608372	CEACAM16	388551	HP:0001730	Progressive hearing impairment
OMIM:608372	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:608372	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:608372	SLC17A8	246213	HP:0003621	Juvenile onset
OMIM:608372	SLC17A8	246213	HP:0001730	Progressive hearing impairment
OMIM:608372	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:608372	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:608372	TJP2	9414	HP:0003621	Juvenile onset
OMIM:608372	TJP2	9414	HP:0001730	Progressive hearing impairment
OMIM:608372	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:608372	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:608372	ACTG1	71	HP:0003621	Juvenile onset
OMIM:608372	ACTG1	71	HP:0001730	Progressive hearing impairment
OMIM:608372	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:608372	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:608372	CCDC50	152137	HP:0003621	Juvenile onset
OMIM:608372	CCDC50	152137	HP:0001730	Progressive hearing impairment
OMIM:608372	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:608372	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:608372	MIR96	407053	HP:0003621	Juvenile onset
OMIM:608372	MIR96	407053	HP:0001730	Progressive hearing impairment
OMIM:608372	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:608372	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:608372	GJB2	2706	HP:0003621	Juvenile onset
OMIM:608372	GJB2	2706	HP:0001730	Progressive hearing impairment
OMIM:608372	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:608372	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:608372	POU4F3	5459	HP:0003621	Juvenile onset
OMIM:608372	POU4F3	5459	HP:0001730	Progressive hearing impairment
OMIM:608372	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:608372	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:608372	GJB3	2707	HP:0003621	Juvenile onset
OMIM:608372	GJB3	2707	HP:0001730	Progressive hearing impairment
OMIM:608372	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:608372	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:608372	MYH9	4627	HP:0003621	Juvenile onset
OMIM:608372	MYH9	4627	HP:0001730	Progressive hearing impairment
OMIM:608372	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:608372	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:608372	CRYM	1428	HP:0003621	Juvenile onset
OMIM:608372	CRYM	1428	HP:0001730	Progressive hearing impairment
OMIM:608372	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:608372	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:608372	COL11A2	1302	HP:0003621	Juvenile onset
OMIM:608372	COL11A2	1302	HP:0001730	Progressive hearing impairment
OMIM:608372	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:608372	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:608372	EYA4	2070	HP:0003621	Juvenile onset
OMIM:608372	EYA4	2070	HP:0001730	Progressive hearing impairment
OMIM:608372	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:608372	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:608372	DFNA5	1687	HP:0003621	Juvenile onset
OMIM:608372	DFNA5	1687	HP:0001730	Progressive hearing impairment
OMIM:608372	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:608372	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:608372	DIAPH3	81624	HP:0003621	Juvenile onset
OMIM:608372	DIAPH3	81624	HP:0001730	Progressive hearing impairment
OMIM:608372	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:608372	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:608372	TMC1	117531	HP:0003621	Juvenile onset
OMIM:608372	TMC1	117531	HP:0001730	Progressive hearing impairment
OMIM:608372	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:608372	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:608372	COCH	1690	HP:0003621	Juvenile onset
OMIM:608372	COCH	1690	HP:0001730	Progressive hearing impairment
OMIM:608372	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:608372	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:608372	OSBPL2	9885	HP:0003621	Juvenile onset
OMIM:608372	OSBPL2	9885	HP:0001730	Progressive hearing impairment
OMIM:608372	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:608372	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:608372	SIX1	6495	HP:0003621	Juvenile onset
OMIM:608372	SIX1	6495	HP:0001730	Progressive hearing impairment
OMIM:608372	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:608372	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:608372	TECTA	7007	HP:0003621	Juvenile onset
OMIM:608372	TECTA	7007	HP:0001730	Progressive hearing impairment
OMIM:608372	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:608372	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:608372	MYO1A	4640	HP:0003621	Juvenile onset
OMIM:608372	MYO1A	4640	HP:0001730	Progressive hearing impairment
OMIM:608372	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:608372	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:608372	MYO1C	4641	HP:0003621	Juvenile onset
OMIM:608372	MYO1C	4641	HP:0001730	Progressive hearing impairment
OMIM:608372	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:608372	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:608372	MYO6	4646	HP:0003621	Juvenile onset
OMIM:608372	MYO6	4646	HP:0001730	Progressive hearing impairment
OMIM:608372	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:608372	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:608372	MYO7A	4647	HP:0003621	Juvenile onset
OMIM:608372	MYO7A	4647	HP:0001730	Progressive hearing impairment
OMIM:608372	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:608372	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:608372	GRHL2	79977	HP:0003621	Juvenile onset
OMIM:608372	GRHL2	79977	HP:0001730	Progressive hearing impairment
OMIM:608372	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:608372	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:608372	DIABLO	56616	HP:0003621	Juvenile onset
OMIM:608372	DIABLO	56616	HP:0001730	Progressive hearing impairment
OMIM:608372	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:608372	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:608372	MYH14	79784	HP:0003621	Juvenile onset
OMIM:608372	MYH14	79784	HP:0001730	Progressive hearing impairment
OMIM:608372	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:608372	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:608372	P2RX2	22953	HP:0003621	Juvenile onset
OMIM:608372	P2RX2	22953	HP:0001730	Progressive hearing impairment
OMIM:608372	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:608372	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:608372	WFS1	7466	HP:0003621	Juvenile onset
OMIM:608372	WFS1	7466	HP:0001730	Progressive hearing impairment
OMIM:608372	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:608372	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:608372	TNC	3371	HP:0003621	Juvenile onset
OMIM:608372	TNC	3371	HP:0001730	Progressive hearing impairment
OMIM:608372	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:608372	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:608372	KCNQ4	9132	HP:0003621	Juvenile onset
OMIM:608372	KCNQ4	9132	HP:0001730	Progressive hearing impairment
OMIM:608372	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:608372	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:608372	HOMER2	9455	HP:0003621	Juvenile onset
OMIM:608372	HOMER2	9455	HP:0001730	Progressive hearing impairment
OMIM:608372	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:608372	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:608372	GJB6	10804	HP:0003621	Juvenile onset
OMIM:608372	GJB6	10804	HP:0001730	Progressive hearing impairment
OMIM:608372	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:608372	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:608372	TBC1D24	57465	HP:0003621	Juvenile onset
OMIM:608372	TBC1D24	57465	HP:0001730	Progressive hearing impairment
OMIM:608372	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:614873	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX19	5824	HP:0001410	Decreased liver function
OMIM:614873	PEX19	5824	HP:0000505	Visual impairment
OMIM:614873	PEX19	5824	HP:0000556	Retinal dystrophy
OMIM:614873	PEX19	5824	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX19	5824	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX19	5824	HP:0001263	Global developmental delay
OMIM:614873	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX16	9409	HP:0001410	Decreased liver function
OMIM:614873	PEX16	9409	HP:0000505	Visual impairment
OMIM:614873	PEX16	9409	HP:0000556	Retinal dystrophy
OMIM:614873	PEX16	9409	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX16	9409	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX16	9409	HP:0001263	Global developmental delay
OMIM:614873	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX2	5828	HP:0001410	Decreased liver function
OMIM:614873	PEX2	5828	HP:0000505	Visual impairment
OMIM:614873	PEX2	5828	HP:0000556	Retinal dystrophy
OMIM:614873	PEX2	5828	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX2	5828	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX2	5828	HP:0001263	Global developmental delay
OMIM:614873	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX1	5189	HP:0001410	Decreased liver function
OMIM:614873	PEX1	5189	HP:0000505	Visual impairment
OMIM:614873	PEX1	5189	HP:0000556	Retinal dystrophy
OMIM:614873	PEX1	5189	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX1	5189	HP:0001263	Global developmental delay
OMIM:614873	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX5	5830	HP:0001410	Decreased liver function
OMIM:614873	PEX5	5830	HP:0000505	Visual impairment
OMIM:614873	PEX5	5830	HP:0000556	Retinal dystrophy
OMIM:614873	PEX5	5830	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX5	5830	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX5	5830	HP:0001263	Global developmental delay
OMIM:614873	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX6	5190	HP:0001410	Decreased liver function
OMIM:614873	PEX6	5190	HP:0000505	Visual impairment
OMIM:614873	PEX6	5190	HP:0000556	Retinal dystrophy
OMIM:614873	PEX6	5190	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX6	5190	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX6	5190	HP:0001263	Global developmental delay
OMIM:614873	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX10	5192	HP:0001410	Decreased liver function
OMIM:614873	PEX10	5192	HP:0000505	Visual impairment
OMIM:614873	PEX10	5192	HP:0000556	Retinal dystrophy
OMIM:614873	PEX10	5192	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX10	5192	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX10	5192	HP:0001263	Global developmental delay
OMIM:614873	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX12	5193	HP:0001410	Decreased liver function
OMIM:614873	PEX12	5193	HP:0000505	Visual impairment
OMIM:614873	PEX12	5193	HP:0000556	Retinal dystrophy
OMIM:614873	PEX12	5193	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX12	5193	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX12	5193	HP:0001263	Global developmental delay
OMIM:614873	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX13	5194	HP:0001410	Decreased liver function
OMIM:614873	PEX13	5194	HP:0000505	Visual impairment
OMIM:614873	PEX13	5194	HP:0000556	Retinal dystrophy
OMIM:614873	PEX13	5194	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX13	5194	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX13	5194	HP:0001263	Global developmental delay
OMIM:614873	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX14	5195	HP:0001410	Decreased liver function
OMIM:614873	PEX14	5195	HP:0000505	Visual impairment
OMIM:614873	PEX14	5195	HP:0000556	Retinal dystrophy
OMIM:614873	PEX14	5195	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX14	5195	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX14	5195	HP:0001263	Global developmental delay
OMIM:614873	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX26	55670	HP:0001410	Decreased liver function
OMIM:614873	PEX26	55670	HP:0000505	Visual impairment
OMIM:614873	PEX26	55670	HP:0000556	Retinal dystrophy
OMIM:614873	PEX26	55670	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX26	55670	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX26	55670	HP:0001263	Global developmental delay
OMIM:614873	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX3	8504	HP:0001410	Decreased liver function
OMIM:614873	PEX3	8504	HP:0000505	Visual impairment
OMIM:614873	PEX3	8504	HP:0000556	Retinal dystrophy
OMIM:614873	PEX3	8504	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX3	8504	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX3	8504	HP:0001263	Global developmental delay
OMIM:614873	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614873	PEX11B	8799	HP:0001410	Decreased liver function
OMIM:614873	PEX11B	8799	HP:0000505	Visual impairment
OMIM:614873	PEX11B	8799	HP:0000556	Retinal dystrophy
OMIM:614873	PEX11B	8799	HP:0001319	Neonatal hypotonia
OMIM:614873	PEX11B	8799	HP:0000407	Sensorineural hearing impairment
OMIM:614873	PEX11B	8799	HP:0001263	Global developmental delay
OMIM:127750	SNCB	6620	HP:0002367	Visual hallucinations
OMIM:127750	SNCB	6620	HP:0000726	Dementia
OMIM:127750	SNCB	6620	HP:0000006	Autosomal dominant inheritance
OMIM:127750	SNCB	6620	HP:0000746	Delusions
OMIM:127750	SNCB	6620	HP:0001300	Parkinsonism
OMIM:127750	SNCA	6622	HP:0002367	Visual hallucinations
OMIM:127750	SNCA	6622	HP:0000726	Dementia
OMIM:127750	SNCA	6622	HP:0000006	Autosomal dominant inheritance
OMIM:127750	SNCA	6622	HP:0000746	Delusions
OMIM:127750	SNCA	6622	HP:0001300	Parkinsonism
OMIM:604169	TPM1	7168	HP:0004308	Ventricular arrhythmia
OMIM:604169	TPM1	7168	HP:0001629	Ventricular septal defect
OMIM:604169	TPM1	7168	HP:0001653	Mitral regurgitation
OMIM:604169	TPM1	7168	HP:0005110	Atrial fibrillation
OMIM:604169	TPM1	7168	HP:0001643	Patent ductus arteriosus
OMIM:604169	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:604169	TPM1	7168	HP:0001712	Left ventricular hypertrophy
OMIM:604169	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:604169	TPM1	7168	HP:0001645	Sudden cardiac death
OMIM:604169	TPM1	7168	HP:0004383	Hypoplastic left heart
OMIM:604169	TPM1	7168	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	LMNA	4000	HP:0004308	Ventricular arrhythmia
OMIM:604169	LMNA	4000	HP:0001629	Ventricular septal defect
OMIM:604169	LMNA	4000	HP:0001653	Mitral regurgitation
OMIM:604169	LMNA	4000	HP:0005110	Atrial fibrillation
OMIM:604169	LMNA	4000	HP:0001643	Patent ductus arteriosus
OMIM:604169	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:604169	LMNA	4000	HP:0001712	Left ventricular hypertrophy
OMIM:604169	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:604169	LMNA	4000	HP:0001645	Sudden cardiac death
OMIM:604169	LMNA	4000	HP:0004383	Hypoplastic left heart
OMIM:604169	LMNA	4000	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	MYH7	4625	HP:0004308	Ventricular arrhythmia
OMIM:604169	MYH7	4625	HP:0001629	Ventricular septal defect
OMIM:604169	MYH7	4625	HP:0001653	Mitral regurgitation
OMIM:604169	MYH7	4625	HP:0005110	Atrial fibrillation
OMIM:604169	MYH7	4625	HP:0001643	Patent ductus arteriosus
OMIM:604169	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:604169	MYH7	4625	HP:0001712	Left ventricular hypertrophy
OMIM:604169	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:604169	MYH7	4625	HP:0001645	Sudden cardiac death
OMIM:604169	MYH7	4625	HP:0004383	Hypoplastic left heart
OMIM:604169	MYH7	4625	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	TNNT2	7139	HP:0004308	Ventricular arrhythmia
OMIM:604169	TNNT2	7139	HP:0001629	Ventricular septal defect
OMIM:604169	TNNT2	7139	HP:0001653	Mitral regurgitation
OMIM:604169	TNNT2	7139	HP:0005110	Atrial fibrillation
OMIM:604169	TNNT2	7139	HP:0001643	Patent ductus arteriosus
OMIM:604169	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:604169	TNNT2	7139	HP:0001712	Left ventricular hypertrophy
OMIM:604169	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:604169	TNNT2	7139	HP:0001645	Sudden cardiac death
OMIM:604169	TNNT2	7139	HP:0004383	Hypoplastic left heart
OMIM:604169	TNNT2	7139	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	LDB3	11155	HP:0004308	Ventricular arrhythmia
OMIM:604169	LDB3	11155	HP:0001629	Ventricular septal defect
OMIM:604169	LDB3	11155	HP:0001653	Mitral regurgitation
OMIM:604169	LDB3	11155	HP:0005110	Atrial fibrillation
OMIM:604169	LDB3	11155	HP:0001643	Patent ductus arteriosus
OMIM:604169	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:604169	LDB3	11155	HP:0001712	Left ventricular hypertrophy
OMIM:604169	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:604169	LDB3	11155	HP:0001645	Sudden cardiac death
OMIM:604169	LDB3	11155	HP:0004383	Hypoplastic left heart
OMIM:604169	LDB3	11155	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	TAZ	6901	HP:0004308	Ventricular arrhythmia
OMIM:604169	TAZ	6901	HP:0001629	Ventricular septal defect
OMIM:604169	TAZ	6901	HP:0001653	Mitral regurgitation
OMIM:604169	TAZ	6901	HP:0005110	Atrial fibrillation
OMIM:604169	TAZ	6901	HP:0001643	Patent ductus arteriosus
OMIM:604169	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:604169	TAZ	6901	HP:0001712	Left ventricular hypertrophy
OMIM:604169	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:604169	TAZ	6901	HP:0001645	Sudden cardiac death
OMIM:604169	TAZ	6901	HP:0004383	Hypoplastic left heart
OMIM:604169	TAZ	6901	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	ACTC1	70	HP:0004308	Ventricular arrhythmia
OMIM:604169	ACTC1	70	HP:0001629	Ventricular septal defect
OMIM:604169	ACTC1	70	HP:0001653	Mitral regurgitation
OMIM:604169	ACTC1	70	HP:0005110	Atrial fibrillation
OMIM:604169	ACTC1	70	HP:0001643	Patent ductus arteriosus
OMIM:604169	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:604169	ACTC1	70	HP:0001712	Left ventricular hypertrophy
OMIM:604169	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:604169	ACTC1	70	HP:0001645	Sudden cardiac death
OMIM:604169	ACTC1	70	HP:0004383	Hypoplastic left heart
OMIM:604169	ACTC1	70	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	PRDM16	63976	HP:0004308	Ventricular arrhythmia
OMIM:604169	PRDM16	63976	HP:0001629	Ventricular septal defect
OMIM:604169	PRDM16	63976	HP:0001653	Mitral regurgitation
OMIM:604169	PRDM16	63976	HP:0005110	Atrial fibrillation
OMIM:604169	PRDM16	63976	HP:0001643	Patent ductus arteriosus
OMIM:604169	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:604169	PRDM16	63976	HP:0001712	Left ventricular hypertrophy
OMIM:604169	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:604169	PRDM16	63976	HP:0001645	Sudden cardiac death
OMIM:604169	PRDM16	63976	HP:0004383	Hypoplastic left heart
OMIM:604169	PRDM16	63976	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	MYH7B	57644	HP:0004308	Ventricular arrhythmia
OMIM:604169	MYH7B	57644	HP:0001629	Ventricular septal defect
OMIM:604169	MYH7B	57644	HP:0001653	Mitral regurgitation
OMIM:604169	MYH7B	57644	HP:0005110	Atrial fibrillation
OMIM:604169	MYH7B	57644	HP:0001643	Patent ductus arteriosus
OMIM:604169	MYH7B	57644	HP:0000006	Autosomal dominant inheritance
OMIM:604169	MYH7B	57644	HP:0001712	Left ventricular hypertrophy
OMIM:604169	MYH7B	57644	HP:0001635	Congestive heart failure
OMIM:604169	MYH7B	57644	HP:0001645	Sudden cardiac death
OMIM:604169	MYH7B	57644	HP:0004383	Hypoplastic left heart
OMIM:604169	MYH7B	57644	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	DTNA	1837	HP:0004308	Ventricular arrhythmia
OMIM:604169	DTNA	1837	HP:0001629	Ventricular septal defect
OMIM:604169	DTNA	1837	HP:0001653	Mitral regurgitation
OMIM:604169	DTNA	1837	HP:0005110	Atrial fibrillation
OMIM:604169	DTNA	1837	HP:0001643	Patent ductus arteriosus
OMIM:604169	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:604169	DTNA	1837	HP:0001712	Left ventricular hypertrophy
OMIM:604169	DTNA	1837	HP:0001635	Congestive heart failure
OMIM:604169	DTNA	1837	HP:0001645	Sudden cardiac death
OMIM:604169	DTNA	1837	HP:0004383	Hypoplastic left heart
OMIM:604169	DTNA	1837	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	MIB1	57534	HP:0004308	Ventricular arrhythmia
OMIM:604169	MIB1	57534	HP:0001629	Ventricular septal defect
OMIM:604169	MIB1	57534	HP:0001653	Mitral regurgitation
OMIM:604169	MIB1	57534	HP:0005110	Atrial fibrillation
OMIM:604169	MIB1	57534	HP:0001643	Patent ductus arteriosus
OMIM:604169	MIB1	57534	HP:0000006	Autosomal dominant inheritance
OMIM:604169	MIB1	57534	HP:0001712	Left ventricular hypertrophy
OMIM:604169	MIB1	57534	HP:0001635	Congestive heart failure
OMIM:604169	MIB1	57534	HP:0001645	Sudden cardiac death
OMIM:604169	MIB1	57534	HP:0004383	Hypoplastic left heart
OMIM:604169	MIB1	57534	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:604169	MYBPC3	4607	HP:0004308	Ventricular arrhythmia
OMIM:604169	MYBPC3	4607	HP:0001629	Ventricular septal defect
OMIM:604169	MYBPC3	4607	HP:0001653	Mitral regurgitation
OMIM:604169	MYBPC3	4607	HP:0005110	Atrial fibrillation
OMIM:604169	MYBPC3	4607	HP:0001643	Patent ductus arteriosus
OMIM:604169	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:604169	MYBPC3	4607	HP:0001712	Left ventricular hypertrophy
OMIM:604169	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:604169	MYBPC3	4607	HP:0001645	Sudden cardiac death
OMIM:604169	MYBPC3	4607	HP:0004383	Hypoplastic left heart
OMIM:604169	MYBPC3	4607	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:615897	CTPS1	1503	HP:0000007	Autosomal recessive inheritance
OMIM:612918	PIK3CA	5290	HP:0000324	Facial asymmetry
OMIM:612918	PIK3CA	5290	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:612918	PIK3CA	5290	HP:0001548	Overgrowth
OMIM:612918	PIK3CA	5290	HP:0002650	Scoliosis
OMIM:612918	PIK3CA	5290	HP:0010301	Spinal dysraphism
OMIM:612918	PIK3CA	5290	HP:0004437	Cranial hyperostosis
OMIM:612918	PIK3CA	5290	HP:0001744	Splenomegaly
OMIM:612918	PIK3CA	5290	HP:0001852	Sandal gap
OMIM:612918	PIK3CA	5290	HP:0008678	Renal hypoplasia/aplasia
OMIM:301310	ABCB7	22	HP:0002075	Dysdiadochokinesis
OMIM:301310	ABCB7	22	HP:0003487	Babinski sign
OMIM:301310	ABCB7	22	HP:0001347	Hyperreflexia
OMIM:301310	ABCB7	22	HP:0100543	Cognitive impairment
OMIM:301310	ABCB7	22	HP:0002169	Clonus
OMIM:301310	ABCB7	22	HP:0002311	Incoordination
OMIM:301310	ABCB7	22	HP:0001252	Muscular hypotonia
OMIM:301310	ABCB7	22	HP:0001310	Dysmetria
OMIM:301310	ABCB7	22	HP:0001419	X-linked recessive inheritance
OMIM:301310	ABCB7	22	HP:0000486	Strabismus
OMIM:301310	ABCB7	22	HP:0001511	Intrauterine growth retardation
OMIM:301310	ABCB7	22	HP:0001260	Dysarthria
OMIM:301310	ABCB7	22	HP:0002167	Neurological speech impairment
OMIM:301310	ABCB7	22	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301310	ABCB7	22	HP:0100022	Abnormality of movement
OMIM:301310	ABCB7	22	HP:0000639	Nystagmus
OMIM:301310	ABCB7	22	HP:0003621	Juvenile onset
OMIM:301310	ABCB7	22	HP:0002650	Scoliosis
ORPHANET:505	HLA-DRA	3122	HP:0000962	Hyperkeratosis
ORPHANET:505	HLA-DRA	3122	HP:0001596	Alopecia
ORPHANET:505	HLA-DRA	3122	HP:0000989	Pruritus
OMIM:614743	IFNG	3458	HP:0002216	Premature graying of hair
OMIM:614743	IFNG	3458	HP:0005528	Bone marrow hypocellularity
OMIM:614743	IFNG	3458	HP:0000006	Autosomal dominant inheritance
OMIM:614743	IFNG	3458	HP:0001915	Aplastic anemia
OMIM:614743	IFNG	3458	HP:0003829	Incomplete penetrance
OMIM:614743	IFNG	3458	HP:0001909	Leukemia
OMIM:614743	IFNG	3458	HP:0003581	Adult onset
OMIM:614743	IFNG	3458	HP:0001394	Cirrhosis
OMIM:614743	IFNG	3458	HP:0002206	Pulmonary fibrosis
OMIM:614743	TERC	7012	HP:0002216	Premature graying of hair
OMIM:614743	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:614743	TERC	7012	HP:0000006	Autosomal dominant inheritance
OMIM:614743	TERC	7012	HP:0001915	Aplastic anemia
OMIM:614743	TERC	7012	HP:0003829	Incomplete penetrance
OMIM:614743	TERC	7012	HP:0001909	Leukemia
OMIM:614743	TERC	7012	HP:0003581	Adult onset
OMIM:614743	TERC	7012	HP:0001394	Cirrhosis
OMIM:614743	TERC	7012	HP:0002206	Pulmonary fibrosis
OMIM:614743	TERT	7015	HP:0002216	Premature graying of hair
OMIM:614743	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:614743	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:614743	TERT	7015	HP:0001915	Aplastic anemia
OMIM:614743	TERT	7015	HP:0003829	Incomplete penetrance
OMIM:614743	TERT	7015	HP:0001909	Leukemia
OMIM:614743	TERT	7015	HP:0003581	Adult onset
OMIM:614743	TERT	7015	HP:0001394	Cirrhosis
OMIM:614743	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:614743	PRF1	5551	HP:0002216	Premature graying of hair
OMIM:614743	PRF1	5551	HP:0005528	Bone marrow hypocellularity
OMIM:614743	PRF1	5551	HP:0000006	Autosomal dominant inheritance
OMIM:614743	PRF1	5551	HP:0001915	Aplastic anemia
OMIM:614743	PRF1	5551	HP:0003829	Incomplete penetrance
OMIM:614743	PRF1	5551	HP:0001909	Leukemia
OMIM:614743	PRF1	5551	HP:0003581	Adult onset
OMIM:614743	PRF1	5551	HP:0001394	Cirrhosis
OMIM:614743	PRF1	5551	HP:0002206	Pulmonary fibrosis
OMIM:614743	SBDS	51119	HP:0002216	Premature graying of hair
OMIM:614743	SBDS	51119	HP:0005528	Bone marrow hypocellularity
OMIM:614743	SBDS	51119	HP:0000006	Autosomal dominant inheritance
OMIM:614743	SBDS	51119	HP:0001915	Aplastic anemia
OMIM:614743	SBDS	51119	HP:0003829	Incomplete penetrance
OMIM:614743	SBDS	51119	HP:0001909	Leukemia
OMIM:614743	SBDS	51119	HP:0003581	Adult onset
OMIM:614743	SBDS	51119	HP:0001394	Cirrhosis
OMIM:614743	SBDS	51119	HP:0002206	Pulmonary fibrosis
OMIM:601631	FOXC1	2296	HP:0001320	Cerebellar vermis hypoplasia
OMIM:601631	FOXC1	2296	HP:0000501	Glaucoma
OMIM:601631	FOXC1	2296	HP:0000006	Autosomal dominant inheritance
OMIM:601631	PITX2	5308	HP:0001320	Cerebellar vermis hypoplasia
OMIM:601631	PITX2	5308	HP:0000501	Glaucoma
OMIM:601631	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:613695	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:613695	CALM1	801	HP:0001279	Syncope
OMIM:613695	CALM1	801	HP:0001663	Ventricular fibrillation
OMIM:613695	CALM1	801	HP:0001664	Torsade de pointes
OMIM:613695	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:613695	CALM1	801	HP:0001645	Sudden cardiac death
OMIM:613695	CALM2	805	HP:0001657	Prolonged QT interval
OMIM:613695	CALM2	805	HP:0001279	Syncope
OMIM:613695	CALM2	805	HP:0001663	Ventricular fibrillation
OMIM:613695	CALM2	805	HP:0001664	Torsade de pointes
OMIM:613695	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:613695	CALM2	805	HP:0001645	Sudden cardiac death
OMIM:613695	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:613695	KCNE2	9992	HP:0001279	Syncope
OMIM:613695	KCNE2	9992	HP:0001663	Ventricular fibrillation
OMIM:613695	KCNE2	9992	HP:0001664	Torsade de pointes
OMIM:613695	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:613695	KCNE2	9992	HP:0001645	Sudden cardiac death
OMIM:613695	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:613695	KCNQ1	3784	HP:0001279	Syncope
OMIM:613695	KCNQ1	3784	HP:0001663	Ventricular fibrillation
OMIM:613695	KCNQ1	3784	HP:0001664	Torsade de pointes
OMIM:613695	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:613695	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:613695	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:613695	KCNE1	3753	HP:0001279	Syncope
OMIM:613695	KCNE1	3753	HP:0001663	Ventricular fibrillation
OMIM:613695	KCNE1	3753	HP:0001664	Torsade de pointes
OMIM:613695	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:613695	KCNE1	3753	HP:0001645	Sudden cardiac death
OMIM:613695	KCNH2	3757	HP:0001657	Prolonged QT interval
OMIM:613695	KCNH2	3757	HP:0001279	Syncope
OMIM:613695	KCNH2	3757	HP:0001663	Ventricular fibrillation
OMIM:613695	KCNH2	3757	HP:0001664	Torsade de pointes
OMIM:613695	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:613695	KCNH2	3757	HP:0001645	Sudden cardiac death
OMIM:613695	SNTA1	6640	HP:0001657	Prolonged QT interval
OMIM:613695	SNTA1	6640	HP:0001279	Syncope
OMIM:613695	SNTA1	6640	HP:0001663	Ventricular fibrillation
OMIM:613695	SNTA1	6640	HP:0001664	Torsade de pointes
OMIM:613695	SNTA1	6640	HP:0000006	Autosomal dominant inheritance
OMIM:613695	SNTA1	6640	HP:0001645	Sudden cardiac death
OMIM:613695	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:613695	KCNJ5	3762	HP:0001279	Syncope
OMIM:613695	KCNJ5	3762	HP:0001663	Ventricular fibrillation
OMIM:613695	KCNJ5	3762	HP:0001664	Torsade de pointes
OMIM:613695	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:613695	KCNJ5	3762	HP:0001645	Sudden cardiac death
OMIM:613695	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:613695	SCN4B	6330	HP:0001279	Syncope
OMIM:613695	SCN4B	6330	HP:0001663	Ventricular fibrillation
OMIM:613695	SCN4B	6330	HP:0001664	Torsade de pointes
OMIM:613695	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:613695	SCN4B	6330	HP:0001645	Sudden cardiac death
OMIM:613695	NOS1AP	9722	HP:0001657	Prolonged QT interval
OMIM:613695	NOS1AP	9722	HP:0001279	Syncope
OMIM:613695	NOS1AP	9722	HP:0001663	Ventricular fibrillation
OMIM:613695	NOS1AP	9722	HP:0001664	Torsade de pointes
OMIM:613695	NOS1AP	9722	HP:0000006	Autosomal dominant inheritance
OMIM:613695	NOS1AP	9722	HP:0001645	Sudden cardiac death
OMIM:613695	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:613695	SCN5A	6331	HP:0001279	Syncope
OMIM:613695	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:613695	SCN5A	6331	HP:0001664	Torsade de pointes
OMIM:613695	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613695	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:613695	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:613695	CAV3	859	HP:0001279	Syncope
OMIM:613695	CAV3	859	HP:0001663	Ventricular fibrillation
OMIM:613695	CAV3	859	HP:0001664	Torsade de pointes
OMIM:613695	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:613695	CAV3	859	HP:0001645	Sudden cardiac death
OMIM:613695	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:613695	AKAP9	10142	HP:0001279	Syncope
OMIM:613695	AKAP9	10142	HP:0001663	Ventricular fibrillation
OMIM:613695	AKAP9	10142	HP:0001664	Torsade de pointes
OMIM:613695	AKAP9	10142	HP:0000006	Autosomal dominant inheritance
OMIM:613695	AKAP9	10142	HP:0001645	Sudden cardiac death
OMIM:613695	ANK2	287	HP:0001657	Prolonged QT interval
OMIM:613695	ANK2	287	HP:0001279	Syncope
OMIM:613695	ANK2	287	HP:0001663	Ventricular fibrillation
OMIM:613695	ANK2	287	HP:0001664	Torsade de pointes
OMIM:613695	ANK2	287	HP:0000006	Autosomal dominant inheritance
OMIM:613695	ANK2	287	HP:0001645	Sudden cardiac death
OMIM:616323	MUSK	4593	HP:0002093	Respiratory insufficiency
OMIM:616323	MUSK	4593	HP:0011968	Feeding difficulties
OMIM:616323	MUSK	4593	HP:0010628	Facial palsy
OMIM:616323	MUSK	4593	HP:0000508	Ptosis
OMIM:616323	MUSK	4593	HP:0000218	High palate
OMIM:616323	MUSK	4593	HP:0001252	Muscular hypotonia
OMIM:616323	MUSK	4593	HP:0002015	Dysphagia
OMIM:616323	CHRNB1	1140	HP:0002093	Respiratory insufficiency
OMIM:616323	CHRNB1	1140	HP:0011968	Feeding difficulties
OMIM:616323	CHRNB1	1140	HP:0010628	Facial palsy
OMIM:616323	CHRNB1	1140	HP:0000508	Ptosis
OMIM:616323	CHRNB1	1140	HP:0000218	High palate
OMIM:616323	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:616323	CHRNB1	1140	HP:0002015	Dysphagia
OMIM:616323	DOK7	285489	HP:0002093	Respiratory insufficiency
OMIM:616323	DOK7	285489	HP:0011968	Feeding difficulties
OMIM:616323	DOK7	285489	HP:0010628	Facial palsy
OMIM:616323	DOK7	285489	HP:0000508	Ptosis
OMIM:616323	DOK7	285489	HP:0000218	High palate
OMIM:616323	DOK7	285489	HP:0001252	Muscular hypotonia
OMIM:616323	DOK7	285489	HP:0002015	Dysphagia
OMIM:616323	LRP4	4038	HP:0002093	Respiratory insufficiency
OMIM:616323	LRP4	4038	HP:0011968	Feeding difficulties
OMIM:616323	LRP4	4038	HP:0010628	Facial palsy
OMIM:616323	LRP4	4038	HP:0000508	Ptosis
OMIM:616323	LRP4	4038	HP:0000218	High palate
OMIM:616323	LRP4	4038	HP:0001252	Muscular hypotonia
OMIM:616323	LRP4	4038	HP:0002015	Dysphagia
OMIM:616323	CHRND	1144	HP:0002093	Respiratory insufficiency
OMIM:616323	CHRND	1144	HP:0011968	Feeding difficulties
OMIM:616323	CHRND	1144	HP:0010628	Facial palsy
OMIM:616323	CHRND	1144	HP:0000508	Ptosis
OMIM:616323	CHRND	1144	HP:0000218	High palate
OMIM:616323	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:616323	CHRND	1144	HP:0002015	Dysphagia
OMIM:616323	RAPSN	5913	HP:0002093	Respiratory insufficiency
OMIM:616323	RAPSN	5913	HP:0011968	Feeding difficulties
OMIM:616323	RAPSN	5913	HP:0010628	Facial palsy
OMIM:616323	RAPSN	5913	HP:0000508	Ptosis
OMIM:616323	RAPSN	5913	HP:0000218	High palate
OMIM:616323	RAPSN	5913	HP:0001252	Muscular hypotonia
OMIM:616323	RAPSN	5913	HP:0002015	Dysphagia
OMIM:616323	SCN4A	6329	HP:0002093	Respiratory insufficiency
OMIM:616323	SCN4A	6329	HP:0011968	Feeding difficulties
OMIM:616323	SCN4A	6329	HP:0010628	Facial palsy
OMIM:616323	SCN4A	6329	HP:0000508	Ptosis
OMIM:616323	SCN4A	6329	HP:0000218	High palate
OMIM:616323	SCN4A	6329	HP:0001252	Muscular hypotonia
OMIM:616323	SCN4A	6329	HP:0002015	Dysphagia
OMIM:616323	CHRNE	1145	HP:0002093	Respiratory insufficiency
OMIM:616323	CHRNE	1145	HP:0011968	Feeding difficulties
OMIM:616323	CHRNE	1145	HP:0010628	Facial palsy
OMIM:616323	CHRNE	1145	HP:0000508	Ptosis
OMIM:616323	CHRNE	1145	HP:0000218	High palate
OMIM:616323	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:616323	CHRNE	1145	HP:0002015	Dysphagia
OMIM:616323	AGRN	375790	HP:0002093	Respiratory insufficiency
OMIM:616323	AGRN	375790	HP:0011968	Feeding difficulties
OMIM:616323	AGRN	375790	HP:0010628	Facial palsy
OMIM:616323	AGRN	375790	HP:0000508	Ptosis
OMIM:616323	AGRN	375790	HP:0000218	High palate
OMIM:616323	AGRN	375790	HP:0001252	Muscular hypotonia
OMIM:616323	AGRN	375790	HP:0002015	Dysphagia
OMIM:616323	CHRNA1	1134	HP:0002093	Respiratory insufficiency
OMIM:616323	CHRNA1	1134	HP:0011968	Feeding difficulties
OMIM:616323	CHRNA1	1134	HP:0010628	Facial palsy
OMIM:616323	CHRNA1	1134	HP:0000508	Ptosis
OMIM:616323	CHRNA1	1134	HP:0000218	High palate
OMIM:616323	CHRNA1	1134	HP:0001252	Muscular hypotonia
OMIM:616323	CHRNA1	1134	HP:0002015	Dysphagia
OMIM:309520	MED12	9968	HP:0000717	Autism
OMIM:309520	MED12	9968	HP:0000219	Thin upper lip vermilion
OMIM:309520	MED12	9968	HP:0000426	Prominent nasal bridge
OMIM:309520	MED12	9968	HP:0000767	Pectus excavatum
OMIM:309520	MED12	9968	HP:0001547	Abnormality of the rib cage
OMIM:309520	MED12	9968	HP:0000722	Obsessive-compulsive behavior
OMIM:309520	MED12	9968	HP:0011220	Prominent forehead
OMIM:309520	MED12	9968	HP:0000678	Dental crowding
OMIM:309520	MED12	9968	HP:0001166	Arachnodactyly
OMIM:309520	MED12	9968	HP:0002631	Ascending aortic aneurysm
OMIM:309520	MED12	9968	HP:0001274	Agenesis of corpus callosum
OMIM:309520	MED12	9968	HP:0002007	Frontal bossing
OMIM:309520	MED12	9968	HP:0000322	Short philtrum
OMIM:309520	MED12	9968	HP:0000119	Abnormality of the genitourinary system
OMIM:309520	MED12	9968	HP:0000369	Low-set ears
OMIM:309520	MED12	9968	HP:0000218	High palate
OMIM:309520	MED12	9968	HP:0001631	Atria septal defect
OMIM:309520	MED12	9968	HP:0001290	Generalized hypotonia
OMIM:309520	MED12	9968	HP:0000709	Psychosis
OMIM:309520	MED12	9968	HP:0000718	Aggressive behavior
OMIM:309520	MED12	9968	HP:0000276	Long face
OMIM:309520	MED12	9968	HP:0001371	Flexion contracture
OMIM:309520	MED12	9968	HP:0003189	Long nose
OMIM:309520	MED12	9968	HP:0001250	Seizures
OMIM:309520	MED12	9968	HP:0000256	Macrocephaly
OMIM:309520	MED12	9968	HP:0000752	Hyperactivity
OMIM:309520	MED12	9968	HP:0001249	Intellectual disability
OMIM:309520	MED12	9968	HP:0000712	Emotional lability
OMIM:309520	MED12	9968	HP:0001388	Joint laxity
OMIM:309520	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:309520	MED12	9968	HP:0001611	Nasal speech
OMIM:309520	MED12	9968	HP:0011304	Broad thumb
OMIM:309520	MED12	9968	HP:0000275	Narrow face
OMIM:309520	MED12	9968	HP:0000327	Hypoplasia of the maxilla
OMIM:309520	MED12	9968	HP:0000194	Open mouth
OMIM:309520	MED12	9968	HP:0001629	Ventricular septal defect
OMIM:309520	MED12	9968	HP:0008544	Abnormally folded helix
OMIM:309520	MED12	9968	HP:0000347	Micrognathia
OMIM:309520	MED12	9968	HP:0000446	Narrow nasal bridge
OMIM:309520	UPF3B	65109	HP:0000717	Autism
OMIM:309520	UPF3B	65109	HP:0000219	Thin upper lip vermilion
OMIM:309520	UPF3B	65109	HP:0000426	Prominent nasal bridge
OMIM:309520	UPF3B	65109	HP:0000767	Pectus excavatum
OMIM:309520	UPF3B	65109	HP:0001547	Abnormality of the rib cage
OMIM:309520	UPF3B	65109	HP:0000722	Obsessive-compulsive behavior
OMIM:309520	UPF3B	65109	HP:0011220	Prominent forehead
OMIM:309520	UPF3B	65109	HP:0000678	Dental crowding
OMIM:309520	UPF3B	65109	HP:0001166	Arachnodactyly
OMIM:309520	UPF3B	65109	HP:0002631	Ascending aortic aneurysm
OMIM:309520	UPF3B	65109	HP:0001274	Agenesis of corpus callosum
OMIM:309520	UPF3B	65109	HP:0002007	Frontal bossing
OMIM:309520	UPF3B	65109	HP:0000322	Short philtrum
OMIM:309520	UPF3B	65109	HP:0000119	Abnormality of the genitourinary system
OMIM:309520	UPF3B	65109	HP:0000369	Low-set ears
OMIM:309520	UPF3B	65109	HP:0000218	High palate
OMIM:309520	UPF3B	65109	HP:0001631	Atria septal defect
OMIM:309520	UPF3B	65109	HP:0001290	Generalized hypotonia
OMIM:309520	UPF3B	65109	HP:0000709	Psychosis
OMIM:309520	UPF3B	65109	HP:0000718	Aggressive behavior
OMIM:309520	UPF3B	65109	HP:0000276	Long face
OMIM:309520	UPF3B	65109	HP:0001371	Flexion contracture
OMIM:309520	UPF3B	65109	HP:0003189	Long nose
OMIM:309520	UPF3B	65109	HP:0001250	Seizures
OMIM:309520	UPF3B	65109	HP:0000256	Macrocephaly
OMIM:309520	UPF3B	65109	HP:0000752	Hyperactivity
OMIM:309520	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:309520	UPF3B	65109	HP:0000712	Emotional lability
OMIM:309520	UPF3B	65109	HP:0001388	Joint laxity
OMIM:309520	UPF3B	65109	HP:0001419	X-linked recessive inheritance
OMIM:309520	UPF3B	65109	HP:0001611	Nasal speech
OMIM:309520	UPF3B	65109	HP:0011304	Broad thumb
OMIM:309520	UPF3B	65109	HP:0000275	Narrow face
OMIM:309520	UPF3B	65109	HP:0000327	Hypoplasia of the maxilla
OMIM:309520	UPF3B	65109	HP:0000194	Open mouth
OMIM:309520	UPF3B	65109	HP:0001629	Ventricular septal defect
OMIM:309520	UPF3B	65109	HP:0008544	Abnormally folded helix
OMIM:309520	UPF3B	65109	HP:0000347	Micrognathia
OMIM:309520	UPF3B	65109	HP:0000446	Narrow nasal bridge
OMIM:309520	ZDHHC9	51114	HP:0000717	Autism
OMIM:309520	ZDHHC9	51114	HP:0000219	Thin upper lip vermilion
OMIM:309520	ZDHHC9	51114	HP:0000426	Prominent nasal bridge
OMIM:309520	ZDHHC9	51114	HP:0000767	Pectus excavatum
OMIM:309520	ZDHHC9	51114	HP:0001547	Abnormality of the rib cage
OMIM:309520	ZDHHC9	51114	HP:0000722	Obsessive-compulsive behavior
OMIM:309520	ZDHHC9	51114	HP:0011220	Prominent forehead
OMIM:309520	ZDHHC9	51114	HP:0000678	Dental crowding
OMIM:309520	ZDHHC9	51114	HP:0001166	Arachnodactyly
OMIM:309520	ZDHHC9	51114	HP:0002631	Ascending aortic aneurysm
OMIM:309520	ZDHHC9	51114	HP:0001274	Agenesis of corpus callosum
OMIM:309520	ZDHHC9	51114	HP:0002007	Frontal bossing
OMIM:309520	ZDHHC9	51114	HP:0000322	Short philtrum
OMIM:309520	ZDHHC9	51114	HP:0000119	Abnormality of the genitourinary system
OMIM:309520	ZDHHC9	51114	HP:0000369	Low-set ears
OMIM:309520	ZDHHC9	51114	HP:0000218	High palate
OMIM:309520	ZDHHC9	51114	HP:0001631	Atria septal defect
OMIM:309520	ZDHHC9	51114	HP:0001290	Generalized hypotonia
OMIM:309520	ZDHHC9	51114	HP:0000709	Psychosis
OMIM:309520	ZDHHC9	51114	HP:0000718	Aggressive behavior
OMIM:309520	ZDHHC9	51114	HP:0000276	Long face
OMIM:309520	ZDHHC9	51114	HP:0001371	Flexion contracture
OMIM:309520	ZDHHC9	51114	HP:0003189	Long nose
OMIM:309520	ZDHHC9	51114	HP:0001250	Seizures
OMIM:309520	ZDHHC9	51114	HP:0000256	Macrocephaly
OMIM:309520	ZDHHC9	51114	HP:0000752	Hyperactivity
OMIM:309520	ZDHHC9	51114	HP:0001249	Intellectual disability
OMIM:309520	ZDHHC9	51114	HP:0000712	Emotional lability
OMIM:309520	ZDHHC9	51114	HP:0001388	Joint laxity
OMIM:309520	ZDHHC9	51114	HP:0001419	X-linked recessive inheritance
OMIM:309520	ZDHHC9	51114	HP:0001611	Nasal speech
OMIM:309520	ZDHHC9	51114	HP:0011304	Broad thumb
OMIM:309520	ZDHHC9	51114	HP:0000275	Narrow face
OMIM:309520	ZDHHC9	51114	HP:0000327	Hypoplasia of the maxilla
OMIM:309520	ZDHHC9	51114	HP:0000194	Open mouth
OMIM:309520	ZDHHC9	51114	HP:0001629	Ventricular septal defect
OMIM:309520	ZDHHC9	51114	HP:0008544	Abnormally folded helix
OMIM:309520	ZDHHC9	51114	HP:0000347	Micrognathia
OMIM:309520	ZDHHC9	51114	HP:0000446	Narrow nasal bridge
OMIM:614198	MUSK	4593	HP:0003307	Hyperlordosis
OMIM:614198	MUSK	4593	HP:0000218	High palate
OMIM:614198	MUSK	4593	HP:0000544	External ophthalmoplegia
OMIM:614198	MUSK	4593	HP:0002104	Apnea
OMIM:614198	MUSK	4593	HP:0000007	Autosomal recessive inheritance
OMIM:614198	MUSK	4593	HP:0001270	Motor delay
OMIM:614198	MUSK	4593	HP:0001288	Gait disturbance
OMIM:614198	MUSK	4593	HP:0000508	Ptosis
OMIM:614198	CHRNB1	1140	HP:0003307	Hyperlordosis
OMIM:614198	CHRNB1	1140	HP:0000218	High palate
OMIM:614198	CHRNB1	1140	HP:0000544	External ophthalmoplegia
OMIM:614198	CHRNB1	1140	HP:0002104	Apnea
OMIM:614198	CHRNB1	1140	HP:0000007	Autosomal recessive inheritance
OMIM:614198	CHRNB1	1140	HP:0001270	Motor delay
OMIM:614198	CHRNB1	1140	HP:0001288	Gait disturbance
OMIM:614198	CHRNB1	1140	HP:0000508	Ptosis
OMIM:614198	DOK7	285489	HP:0003307	Hyperlordosis
OMIM:614198	DOK7	285489	HP:0000218	High palate
OMIM:614198	DOK7	285489	HP:0000544	External ophthalmoplegia
OMIM:614198	DOK7	285489	HP:0002104	Apnea
OMIM:614198	DOK7	285489	HP:0000007	Autosomal recessive inheritance
OMIM:614198	DOK7	285489	HP:0001270	Motor delay
OMIM:614198	DOK7	285489	HP:0001288	Gait disturbance
OMIM:614198	DOK7	285489	HP:0000508	Ptosis
OMIM:614198	LRP4	4038	HP:0003307	Hyperlordosis
OMIM:614198	LRP4	4038	HP:0000218	High palate
OMIM:614198	LRP4	4038	HP:0000544	External ophthalmoplegia
OMIM:614198	LRP4	4038	HP:0002104	Apnea
OMIM:614198	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:614198	LRP4	4038	HP:0001270	Motor delay
OMIM:614198	LRP4	4038	HP:0001288	Gait disturbance
OMIM:614198	LRP4	4038	HP:0000508	Ptosis
OMIM:614198	CHRND	1144	HP:0003307	Hyperlordosis
OMIM:614198	CHRND	1144	HP:0000218	High palate
OMIM:614198	CHRND	1144	HP:0000544	External ophthalmoplegia
OMIM:614198	CHRND	1144	HP:0002104	Apnea
OMIM:614198	CHRND	1144	HP:0000007	Autosomal recessive inheritance
OMIM:614198	CHRND	1144	HP:0001270	Motor delay
OMIM:614198	CHRND	1144	HP:0001288	Gait disturbance
OMIM:614198	CHRND	1144	HP:0000508	Ptosis
OMIM:614198	SCN4A	6329	HP:0003307	Hyperlordosis
OMIM:614198	SCN4A	6329	HP:0000218	High palate
OMIM:614198	SCN4A	6329	HP:0000544	External ophthalmoplegia
OMIM:614198	SCN4A	6329	HP:0002104	Apnea
OMIM:614198	SCN4A	6329	HP:0000007	Autosomal recessive inheritance
OMIM:614198	SCN4A	6329	HP:0001270	Motor delay
OMIM:614198	SCN4A	6329	HP:0001288	Gait disturbance
OMIM:614198	SCN4A	6329	HP:0000508	Ptosis
OMIM:614198	RAPSN	5913	HP:0003307	Hyperlordosis
OMIM:614198	RAPSN	5913	HP:0000218	High palate
OMIM:614198	RAPSN	5913	HP:0000544	External ophthalmoplegia
OMIM:614198	RAPSN	5913	HP:0002104	Apnea
OMIM:614198	RAPSN	5913	HP:0000007	Autosomal recessive inheritance
OMIM:614198	RAPSN	5913	HP:0001270	Motor delay
OMIM:614198	RAPSN	5913	HP:0001288	Gait disturbance
OMIM:614198	RAPSN	5913	HP:0000508	Ptosis
OMIM:614198	CHRNE	1145	HP:0003307	Hyperlordosis
OMIM:614198	CHRNE	1145	HP:0000218	High palate
OMIM:614198	CHRNE	1145	HP:0000544	External ophthalmoplegia
OMIM:614198	CHRNE	1145	HP:0002104	Apnea
OMIM:614198	CHRNE	1145	HP:0000007	Autosomal recessive inheritance
OMIM:614198	CHRNE	1145	HP:0001270	Motor delay
OMIM:614198	CHRNE	1145	HP:0001288	Gait disturbance
OMIM:614198	CHRNE	1145	HP:0000508	Ptosis
OMIM:614198	AGRN	375790	HP:0003307	Hyperlordosis
OMIM:614198	AGRN	375790	HP:0000218	High palate
OMIM:614198	AGRN	375790	HP:0000544	External ophthalmoplegia
OMIM:614198	AGRN	375790	HP:0002104	Apnea
OMIM:614198	AGRN	375790	HP:0000007	Autosomal recessive inheritance
OMIM:614198	AGRN	375790	HP:0001270	Motor delay
OMIM:614198	AGRN	375790	HP:0001288	Gait disturbance
OMIM:614198	AGRN	375790	HP:0000508	Ptosis
OMIM:614198	CHRNA1	1134	HP:0003307	Hyperlordosis
OMIM:614198	CHRNA1	1134	HP:0000218	High palate
OMIM:614198	CHRNA1	1134	HP:0000544	External ophthalmoplegia
OMIM:614198	CHRNA1	1134	HP:0002104	Apnea
OMIM:614198	CHRNA1	1134	HP:0000007	Autosomal recessive inheritance
OMIM:614198	CHRNA1	1134	HP:0001270	Motor delay
OMIM:614198	CHRNA1	1134	HP:0001288	Gait disturbance
OMIM:614198	CHRNA1	1134	HP:0000508	Ptosis
OMIM:615008	CFH	3075	HP:0000093	Proteinuria
OMIM:615008	CFH	3075	HP:0001878	Hemolytic anemia
OMIM:615008	CFH	3075	HP:0000100	Nephrotic syndrome
OMIM:615008	CFH	3075	HP:0003774	Stage 5 chronic kidney disease
OMIM:615008	CFH	3075	HP:0001873	Thrombocytopenia
OMIM:615008	CFH	3075	HP:0000007	Autosomal recessive inheritance
OMIM:615008	CFH	3075	HP:0005575	Hemolytic-uremic syndrome
OMIM:615008	CFH	3075	HP:0003676	Progressive
OMIM:615008	CFH	3075	HP:0001919	Acute kidney injury
OMIM:615008	DGKE	8526	HP:0000093	Proteinuria
OMIM:615008	DGKE	8526	HP:0001878	Hemolytic anemia
OMIM:615008	DGKE	8526	HP:0000100	Nephrotic syndrome
OMIM:615008	DGKE	8526	HP:0003774	Stage 5 chronic kidney disease
OMIM:615008	DGKE	8526	HP:0001873	Thrombocytopenia
OMIM:615008	DGKE	8526	HP:0000007	Autosomal recessive inheritance
OMIM:615008	DGKE	8526	HP:0005575	Hemolytic-uremic syndrome
OMIM:615008	DGKE	8526	HP:0003676	Progressive
OMIM:615008	DGKE	8526	HP:0001919	Acute kidney injury
OMIM:108760	TSHZ1	10194	HP:0000006	Autosomal dominant inheritance
OMIM:108760	TSHZ1	10194	HP:0000402	Stenosis of the external auditory canal
OMIM:108760	TSHZ1	10194	HP:0000405	Conductive hearing impairment
OMIM:108760	TSHZ1	10194	HP:0000413	Atresia of the external auditory canal
OMIM:613610	WDR19	57728	HP:0000316	Hypertelorism
OMIM:613610	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:613610	WDR19	57728	HP:0000581	Blepharophimosis
OMIM:613610	WDR19	57728	HP:0001363	Craniosynostosis
OMIM:613610	WDR19	57728	HP:0000470	Short neck
OMIM:613610	WDR19	57728	HP:0000232	Everted lower lip vermilion
OMIM:613610	WDR19	57728	HP:0000687	Widely spaced teeth
OMIM:613610	WDR19	57728	HP:0000691	Microdontia
OMIM:613610	WDR19	57728	HP:0000968	Ectodermal dysplasia
OMIM:613610	WDR19	57728	HP:0008070	Sparse hair
OMIM:613610	WDR19	57728	HP:0008905	Rhizomelia
OMIM:613610	WDR19	57728	HP:0001156	Brachydactyly syndrome
OMIM:613610	WDR19	57728	HP:0000506	Telecanthus
OMIM:613610	WDR19	57728	HP:0000369	Low-set ears
OMIM:613610	WDR19	57728	HP:0000774	Narrow chest
OMIM:613610	WDR19	57728	HP:0000023	Inguinal hernia
OMIM:613610	WDR19	57728	HP:0000377	Abnormality of the pinna
OMIM:613610	WDR19	57728	HP:0001388	Joint laxity
OMIM:613610	WDR19	57728	HP:0002007	Frontal bossing
OMIM:613610	WDR19	57728	HP:0000268	Dolichocephaly
OMIM:613610	WDR19	57728	HP:0000767	Pectus excavatum
OMIM:613610	WDR19	57728	HP:0001159	Syndactyly
OMIM:613610	IFT43	112752	HP:0000316	Hypertelorism
OMIM:613610	IFT43	112752	HP:0000007	Autosomal recessive inheritance
OMIM:613610	IFT43	112752	HP:0000581	Blepharophimosis
OMIM:613610	IFT43	112752	HP:0001363	Craniosynostosis
OMIM:613610	IFT43	112752	HP:0000470	Short neck
OMIM:613610	IFT43	112752	HP:0000232	Everted lower lip vermilion
OMIM:613610	IFT43	112752	HP:0000687	Widely spaced teeth
OMIM:613610	IFT43	112752	HP:0000691	Microdontia
OMIM:613610	IFT43	112752	HP:0000968	Ectodermal dysplasia
OMIM:613610	IFT43	112752	HP:0008070	Sparse hair
OMIM:613610	IFT43	112752	HP:0008905	Rhizomelia
OMIM:613610	IFT43	112752	HP:0001156	Brachydactyly syndrome
OMIM:613610	IFT43	112752	HP:0000506	Telecanthus
OMIM:613610	IFT43	112752	HP:0000369	Low-set ears
OMIM:613610	IFT43	112752	HP:0000774	Narrow chest
OMIM:613610	IFT43	112752	HP:0000023	Inguinal hernia
OMIM:613610	IFT43	112752	HP:0000377	Abnormality of the pinna
OMIM:613610	IFT43	112752	HP:0001388	Joint laxity
OMIM:613610	IFT43	112752	HP:0002007	Frontal bossing
OMIM:613610	IFT43	112752	HP:0000268	Dolichocephaly
OMIM:613610	IFT43	112752	HP:0000767	Pectus excavatum
OMIM:613610	IFT43	112752	HP:0001159	Syndactyly
OMIM:613610	WDR35	57539	HP:0000316	Hypertelorism
OMIM:613610	WDR35	57539	HP:0000007	Autosomal recessive inheritance
OMIM:613610	WDR35	57539	HP:0000581	Blepharophimosis
OMIM:613610	WDR35	57539	HP:0001363	Craniosynostosis
OMIM:613610	WDR35	57539	HP:0000470	Short neck
OMIM:613610	WDR35	57539	HP:0000232	Everted lower lip vermilion
OMIM:613610	WDR35	57539	HP:0000687	Widely spaced teeth
OMIM:613610	WDR35	57539	HP:0000691	Microdontia
OMIM:613610	WDR35	57539	HP:0000968	Ectodermal dysplasia
OMIM:613610	WDR35	57539	HP:0008070	Sparse hair
OMIM:613610	WDR35	57539	HP:0008905	Rhizomelia
OMIM:613610	WDR35	57539	HP:0001156	Brachydactyly syndrome
OMIM:613610	WDR35	57539	HP:0000506	Telecanthus
OMIM:613610	WDR35	57539	HP:0000369	Low-set ears
OMIM:613610	WDR35	57539	HP:0000774	Narrow chest
OMIM:613610	WDR35	57539	HP:0000023	Inguinal hernia
OMIM:613610	WDR35	57539	HP:0000377	Abnormality of the pinna
OMIM:613610	WDR35	57539	HP:0001388	Joint laxity
OMIM:613610	WDR35	57539	HP:0002007	Frontal bossing
OMIM:613610	WDR35	57539	HP:0000268	Dolichocephaly
OMIM:613610	WDR35	57539	HP:0000767	Pectus excavatum
OMIM:613610	WDR35	57539	HP:0001159	Syndactyly
OMIM:613610	IFT122	55764	HP:0000316	Hypertelorism
OMIM:613610	IFT122	55764	HP:0000007	Autosomal recessive inheritance
OMIM:613610	IFT122	55764	HP:0000581	Blepharophimosis
OMIM:613610	IFT122	55764	HP:0001363	Craniosynostosis
OMIM:613610	IFT122	55764	HP:0000470	Short neck
OMIM:613610	IFT122	55764	HP:0000232	Everted lower lip vermilion
OMIM:613610	IFT122	55764	HP:0000687	Widely spaced teeth
OMIM:613610	IFT122	55764	HP:0000691	Microdontia
OMIM:613610	IFT122	55764	HP:0000968	Ectodermal dysplasia
OMIM:613610	IFT122	55764	HP:0008070	Sparse hair
OMIM:613610	IFT122	55764	HP:0008905	Rhizomelia
OMIM:613610	IFT122	55764	HP:0001156	Brachydactyly syndrome
OMIM:613610	IFT122	55764	HP:0000506	Telecanthus
OMIM:613610	IFT122	55764	HP:0000369	Low-set ears
OMIM:613610	IFT122	55764	HP:0000774	Narrow chest
OMIM:613610	IFT122	55764	HP:0000023	Inguinal hernia
OMIM:613610	IFT122	55764	HP:0000377	Abnormality of the pinna
OMIM:613610	IFT122	55764	HP:0001388	Joint laxity
OMIM:613610	IFT122	55764	HP:0002007	Frontal bossing
OMIM:613610	IFT122	55764	HP:0000268	Dolichocephaly
OMIM:613610	IFT122	55764	HP:0000767	Pectus excavatum
OMIM:613610	IFT122	55764	HP:0001159	Syndactyly
OMIM:616460	METTL23	124512	HP:0000252	Microcephaly
OMIM:616460	METTL23	124512	HP:0000407	Sensorineural hearing impairment
OMIM:616460	METTL23	124512	HP:0001249	Intellectual disability
OMIM:616460	CRADD	8738	HP:0000252	Microcephaly
OMIM:616460	CRADD	8738	HP:0000407	Sensorineural hearing impairment
OMIM:616460	CRADD	8738	HP:0001249	Intellectual disability
OMIM:616460	NSUN2	54888	HP:0000252	Microcephaly
OMIM:616460	NSUN2	54888	HP:0000407	Sensorineural hearing impairment
OMIM:616460	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:616460	FMN2	56776	HP:0000252	Microcephaly
OMIM:616460	FMN2	56776	HP:0000407	Sensorineural hearing impairment
OMIM:616460	FMN2	56776	HP:0001249	Intellectual disability
OMIM:616460	CLIP1	6249	HP:0000252	Microcephaly
OMIM:616460	CLIP1	6249	HP:0000407	Sensorineural hearing impairment
OMIM:616460	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:616460	ZC3H14	79882	HP:0000252	Microcephaly
OMIM:616460	ZC3H14	79882	HP:0000407	Sensorineural hearing impairment
OMIM:616460	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:616460	PRSS12	8492	HP:0000252	Microcephaly
OMIM:616460	PRSS12	8492	HP:0000407	Sensorineural hearing impairment
OMIM:616460	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:616460	LINS1	55180	HP:0000252	Microcephaly
OMIM:616460	LINS1	55180	HP:0000407	Sensorineural hearing impairment
OMIM:616460	LINS1	55180	HP:0001249	Intellectual disability
OMIM:616460	NDST1	3340	HP:0000252	Microcephaly
OMIM:616460	NDST1	3340	HP:0000407	Sensorineural hearing impairment
OMIM:616460	NDST1	3340	HP:0001249	Intellectual disability
OMIM:616460	CC2D1A	54862	HP:0000252	Microcephaly
OMIM:616460	CC2D1A	54862	HP:0000407	Sensorineural hearing impairment
OMIM:616460	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:616460	FBXO31	79791	HP:0000252	Microcephaly
OMIM:616460	FBXO31	79791	HP:0000407	Sensorineural hearing impairment
OMIM:616460	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:616460	CRBN	51185	HP:0000252	Microcephaly
OMIM:616460	CRBN	51185	HP:0000407	Sensorineural hearing impairment
OMIM:616460	CRBN	51185	HP:0001249	Intellectual disability
OMIM:616460	TRAPPC9	83696	HP:0000252	Microcephaly
OMIM:616460	TRAPPC9	83696	HP:0000407	Sensorineural hearing impairment
OMIM:616460	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:616460	GRIK2	2898	HP:0000252	Microcephaly
OMIM:616460	GRIK2	2898	HP:0000407	Sensorineural hearing impairment
OMIM:616460	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:616460	SLC6A17	388662	HP:0000252	Microcephaly
OMIM:616460	SLC6A17	388662	HP:0000407	Sensorineural hearing impairment
OMIM:616460	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:616460	TECR	9524	HP:0000252	Microcephaly
OMIM:616460	TECR	9524	HP:0000407	Sensorineural hearing impairment
OMIM:616460	TECR	9524	HP:0001249	Intellectual disability
OMIM:616460	MAN1B1	11253	HP:0000252	Microcephaly
OMIM:616460	MAN1B1	11253	HP:0000407	Sensorineural hearing impairment
OMIM:616460	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:616460	TUSC3	7991	HP:0000252	Microcephaly
OMIM:616460	TUSC3	7991	HP:0000407	Sensorineural hearing impairment
OMIM:616460	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:616460	ST3GAL3	6487	HP:0000252	Microcephaly
OMIM:616460	ST3GAL3	6487	HP:0000407	Sensorineural hearing impairment
OMIM:616460	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:616460	EDC3	80153	HP:0000252	Microcephaly
OMIM:616460	EDC3	80153	HP:0000407	Sensorineural hearing impairment
OMIM:616460	EDC3	80153	HP:0001249	Intellectual disability
OMIM:616460	MED13L	23389	HP:0000252	Microcephaly
OMIM:616460	MED13L	23389	HP:0000407	Sensorineural hearing impairment
OMIM:616460	MED13L	23389	HP:0001249	Intellectual disability
OMIM:616460	KIAA1033	23325	HP:0000252	Microcephaly
OMIM:616460	KIAA1033	23325	HP:0000407	Sensorineural hearing impairment
OMIM:616460	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:616460	MED23	9439	HP:0000252	Microcephaly
OMIM:616460	MED23	9439	HP:0000407	Sensorineural hearing impairment
OMIM:616460	MED23	9439	HP:0001249	Intellectual disability
OMIM:300909	XPNPEP2	7512	HP:0005214	Intestinal obstruction
OMIM:300909	XPNPEP2	7512	HP:0002027	Abdominal pain
OMIM:300909	XPNPEP2	7512	HP:0100326	Immunologic hypersensitivity
OMIM:300909	XPNPEP2	7512	HP:0001025	Urticaria
OMIM:300909	XPNPEP2	7512	HP:0000969	Edema
OMIM:607906	ALG2	85365	HP:0000639	Nystagmus
OMIM:607906	ALG2	85365	HP:0001250	Seizures
OMIM:607906	ALG2	85365	HP:0000518	Cataract
OMIM:607906	ALG2	85365	HP:0001928	Abnormality of coagulation
OMIM:607906	ALG2	85365	HP:0001263	Global developmental delay
OMIM:607906	ALG2	85365	HP:0100543	Cognitive impairment
OMIM:607906	ALG2	85365	HP:0001249	Intellectual disability
OMIM:607906	ALG2	85365	HP:0000589	Coloboma
OMIM:607906	ALG2	85365	HP:0002521	Hypsarrhythmia
OMIM:607906	ALG2	85365	HP:0001347	Hyperreflexia
OMIM:607906	ALG2	85365	HP:0002240	Hepatomegaly
OMIM:607906	ALG2	85365	HP:0000505	Visual impairment
OMIM:607906	ALG2	85365	HP:0000612	Iris coloboma
OMIM:609057	CD151	977	HP:0008404	Nail dystrophy
OMIM:609057	CD151	977	HP:0003774	Stage 5 chronic kidney disease
OMIM:609057	CD151	977	HP:0000112	Nephropathy
OMIM:609057	CD151	977	HP:0000007	Autosomal recessive inheritance
OMIM:609057	CD151	977	HP:0000123	Nephritis
OMIM:609057	CD151	977	HP:0000407	Sensorineural hearing impairment
OMIM:113200	HOXD13	3239	HP:0000006	Autosomal dominant inheritance
ORPHANET:171829	SIM1	6492	HP:0000400	Macrotia
ORPHANET:171829	SIM1	6492	HP:0002353	EEG abnormality
ORPHANET:171829	SIM1	6492	HP:0000347	Micrognathia
ORPHANET:171829	SIM1	6492	HP:0002648	Abnormality of calvarial morphology
ORPHANET:171829	SIM1	6492	HP:0001252	Muscular hypotonia
ORPHANET:171829	SIM1	6492	HP:0000256	Macrocephaly
ORPHANET:171829	SIM1	6492	HP:0000486	Strabismus
ORPHANET:171829	SIM1	6492	HP:0001182	Tapered finger
ORPHANET:171829	SIM1	6492	HP:0000639	Nystagmus
ORPHANET:171829	SIM1	6492	HP:0001156	Brachydactyly syndrome
ORPHANET:171829	SIM1	6492	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:171829	SIM1	6492	HP:0005105	Abnormal nasal morphology
ORPHANET:171829	SIM1	6492	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:171829	SIM1	6492	HP:0000581	Blepharophimosis
ORPHANET:171829	SIM1	6492	HP:0002167	Neurological speech impairment
ORPHANET:171829	SIM1	6492	HP:0000311	Round face
ORPHANET:171829	SIM1	6492	HP:0000426	Prominent nasal bridge
ORPHANET:171829	SIM1	6492	HP:0000252	Microcephaly
ORPHANET:171829	SIM1	6492	HP:0000164	Abnormality of the teeth
ORPHANET:171829	SIM1	6492	HP:0000316	Hypertelorism
ORPHANET:171829	SIM1	6492	HP:0000545	Myopia
ORPHANET:171829	SIM1	6492	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:171829	SIM1	6492	HP:0004322	Short stature
ORPHANET:171829	SIM1	6492	HP:0000286	Epicanthus
ORPHANET:171829	SIM1	6492	HP:0001513	Obesity
ORPHANET:171829	SIM1	6492	HP:0100543	Cognitive impairment
ORPHANET:171829	SIM1	6492	HP:0000717	Autism
ORPHANET:171829	SIM1	6492	HP:0000174	Abnormality of the palate
ORPHANET:171829	SIM1	6492	HP:0000293	Full cheeks
ORPHANET:1388	IMPAD1	54928	HP:0010296	Ankyloglossia
ORPHANET:1388	IMPAD1	54928	HP:0000293	Full cheeks
ORPHANET:1388	IMPAD1	54928	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:1388	IMPAD1	54928	HP:0000175	Cleft palate
ORPHANET:1388	IMPAD1	54928	HP:0001883	Talipes
ORPHANET:1388	IMPAD1	54928	HP:0000162	Glossoptosis
ORPHANET:1388	IMPAD1	54928	HP:0001382	Joint hypermobility
ORPHANET:1388	IMPAD1	54928	HP:0002119	Ventriculomegaly
ORPHANET:1388	IMPAD1	54928	HP:0000347	Micrognathia
ORPHANET:1388	IMPAD1	54928	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1388	IMPAD1	54928	HP:0004322	Short stature
ORPHANET:1388	IMPAD1	54928	HP:0100490	Camptodactyly of finger
ORPHANET:1388	IMPAD1	54928	HP:0001376	Limitation of joint mobility
ORPHANET:1388	IMPAD1	54928	HP:0001629	Ventricular septal defect
ORPHANET:1388	IMPAD1	54928	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1388	IMPAD1	54928	HP:0002553	Highly arched eyebrow
ORPHANET:1388	IMPAD1	54928	HP:0000767	Pectus excavatum
ORPHANET:1388	IMPAD1	54928	HP:0000316	Hypertelorism
ORPHANET:1388	IMPAD1	54928	HP:0002650	Scoliosis
ORPHANET:1388	IMPAD1	54928	HP:0000388	Otitis media
ORPHANET:1388	IMPAD1	54928	HP:0001631	Atria septal defect
ORPHANET:1388	TGDS	23483	HP:0010296	Ankyloglossia
ORPHANET:1388	TGDS	23483	HP:0000293	Full cheeks
ORPHANET:1388	TGDS	23483	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:1388	TGDS	23483	HP:0000175	Cleft palate
ORPHANET:1388	TGDS	23483	HP:0001883	Talipes
ORPHANET:1388	TGDS	23483	HP:0000162	Glossoptosis
ORPHANET:1388	TGDS	23483	HP:0001382	Joint hypermobility
ORPHANET:1388	TGDS	23483	HP:0002119	Ventriculomegaly
ORPHANET:1388	TGDS	23483	HP:0000347	Micrognathia
ORPHANET:1388	TGDS	23483	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:1388	TGDS	23483	HP:0004322	Short stature
ORPHANET:1388	TGDS	23483	HP:0100490	Camptodactyly of finger
ORPHANET:1388	TGDS	23483	HP:0001376	Limitation of joint mobility
ORPHANET:1388	TGDS	23483	HP:0001629	Ventricular septal defect
ORPHANET:1388	TGDS	23483	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1388	TGDS	23483	HP:0002553	Highly arched eyebrow
ORPHANET:1388	TGDS	23483	HP:0000767	Pectus excavatum
ORPHANET:1388	TGDS	23483	HP:0000316	Hypertelorism
ORPHANET:1388	TGDS	23483	HP:0002650	Scoliosis
ORPHANET:1388	TGDS	23483	HP:0000388	Otitis media
ORPHANET:1388	TGDS	23483	HP:0001631	Atria septal defect
OMIM:105250	IL31RA	133396	HP:0001291	Abnormality of the cranial nerves
OMIM:105250	IL31RA	133396	HP:0003581	Adult onset
OMIM:105250	IL31RA	133396	HP:0000006	Autosomal dominant inheritance
OMIM:105250	IL31RA	133396	HP:0001149	Lattice corneal dystrophy
OMIM:105250	IL31RA	133396	HP:0000989	Pruritus
OMIM:105250	IL31RA	133396	HP:0000973	Cutis laxa
OMIM:105250	IL31RA	133396	HP:0011034	Amyloidosis
OMIM:105250	OSMR	9180	HP:0001291	Abnormality of the cranial nerves
OMIM:105250	OSMR	9180	HP:0003581	Adult onset
OMIM:105250	OSMR	9180	HP:0000006	Autosomal dominant inheritance
OMIM:105250	OSMR	9180	HP:0001149	Lattice corneal dystrophy
OMIM:105250	OSMR	9180	HP:0000989	Pruritus
OMIM:105250	OSMR	9180	HP:0000973	Cutis laxa
OMIM:105250	OSMR	9180	HP:0011034	Amyloidosis
OMIM:614880	PROK2	60675	HP:0000175	Cleft palate
OMIM:614880	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:614880	PROK2	60675	HP:0000054	Micropenis
OMIM:614880	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:614880	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:614880	PROK2	60675	HP:0008734	Decreased testicular size
OMIM:614880	PROKR2	128674	HP:0000175	Cleft palate
OMIM:614880	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:614880	PROKR2	128674	HP:0000054	Micropenis
OMIM:614880	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:614880	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:614880	PROKR2	128674	HP:0008734	Decreased testicular size
OMIM:614880	SEMA3A	10371	HP:0000175	Cleft palate
OMIM:614880	SEMA3A	10371	HP:0000786	Primary amenorrhea
OMIM:614880	SEMA3A	10371	HP:0000054	Micropenis
OMIM:614880	SEMA3A	10371	HP:0000028	Cryptorchidism
OMIM:614880	SEMA3A	10371	HP:0000006	Autosomal dominant inheritance
OMIM:614880	SEMA3A	10371	HP:0008734	Decreased testicular size
OMIM:614880	IL17RD	54756	HP:0000175	Cleft palate
OMIM:614880	IL17RD	54756	HP:0000786	Primary amenorrhea
OMIM:614880	IL17RD	54756	HP:0000054	Micropenis
OMIM:614880	IL17RD	54756	HP:0000028	Cryptorchidism
OMIM:614880	IL17RD	54756	HP:0000006	Autosomal dominant inheritance
OMIM:614880	IL17RD	54756	HP:0008734	Decreased testicular size
OMIM:614880	WDR11	55717	HP:0000175	Cleft palate
OMIM:614880	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:614880	WDR11	55717	HP:0000054	Micropenis
OMIM:614880	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:614880	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:614880	WDR11	55717	HP:0008734	Decreased testicular size
OMIM:614880	KISS1	3814	HP:0000175	Cleft palate
OMIM:614880	KISS1	3814	HP:0000786	Primary amenorrhea
OMIM:614880	KISS1	3814	HP:0000054	Micropenis
OMIM:614880	KISS1	3814	HP:0000028	Cryptorchidism
OMIM:614880	KISS1	3814	HP:0000006	Autosomal dominant inheritance
OMIM:614880	KISS1	3814	HP:0008734	Decreased testicular size
OMIM:614880	SOX10	6663	HP:0000175	Cleft palate
OMIM:614880	SOX10	6663	HP:0000786	Primary amenorrhea
OMIM:614880	SOX10	6663	HP:0000054	Micropenis
OMIM:614880	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:614880	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:614880	SOX10	6663	HP:0008734	Decreased testicular size
OMIM:614880	FEZF1	389549	HP:0000175	Cleft palate
OMIM:614880	FEZF1	389549	HP:0000786	Primary amenorrhea
OMIM:614880	FEZF1	389549	HP:0000054	Micropenis
OMIM:614880	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:614880	FEZF1	389549	HP:0000006	Autosomal dominant inheritance
OMIM:614880	FEZF1	389549	HP:0008734	Decreased testicular size
OMIM:614880	GNRH1	2796	HP:0000175	Cleft palate
OMIM:614880	GNRH1	2796	HP:0000786	Primary amenorrhea
OMIM:614880	GNRH1	2796	HP:0000054	Micropenis
OMIM:614880	GNRH1	2796	HP:0000028	Cryptorchidism
OMIM:614880	GNRH1	2796	HP:0000006	Autosomal dominant inheritance
OMIM:614880	GNRH1	2796	HP:0008734	Decreased testicular size
OMIM:614880	FGF8	2253	HP:0000175	Cleft palate
OMIM:614880	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:614880	FGF8	2253	HP:0000054	Micropenis
OMIM:614880	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:614880	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:614880	FGF8	2253	HP:0008734	Decreased testicular size
OMIM:614880	GNRHR	2798	HP:0000175	Cleft palate
OMIM:614880	GNRHR	2798	HP:0000786	Primary amenorrhea
OMIM:614880	GNRHR	2798	HP:0000054	Micropenis
OMIM:614880	GNRHR	2798	HP:0000028	Cryptorchidism
OMIM:614880	GNRHR	2798	HP:0000006	Autosomal dominant inheritance
OMIM:614880	GNRHR	2798	HP:0008734	Decreased testicular size
OMIM:614880	HS6ST1	9394	HP:0000175	Cleft palate
OMIM:614880	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:614880	HS6ST1	9394	HP:0000054	Micropenis
OMIM:614880	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:614880	HS6ST1	9394	HP:0000006	Autosomal dominant inheritance
OMIM:614880	HS6ST1	9394	HP:0008734	Decreased testicular size
OMIM:614880	ANOS1	3730	HP:0000175	Cleft palate
OMIM:614880	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:614880	ANOS1	3730	HP:0000054	Micropenis
OMIM:614880	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:614880	ANOS1	3730	HP:0000006	Autosomal dominant inheritance
OMIM:614880	ANOS1	3730	HP:0008734	Decreased testicular size
OMIM:614880	TAC3	6866	HP:0000175	Cleft palate
OMIM:614880	TAC3	6866	HP:0000786	Primary amenorrhea
OMIM:614880	TAC3	6866	HP:0000054	Micropenis
OMIM:614880	TAC3	6866	HP:0000028	Cryptorchidism
OMIM:614880	TAC3	6866	HP:0000006	Autosomal dominant inheritance
OMIM:614880	TAC3	6866	HP:0008734	Decreased testicular size
OMIM:614880	CHD7	55636	HP:0000175	Cleft palate
OMIM:614880	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:614880	CHD7	55636	HP:0000054	Micropenis
OMIM:614880	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:614880	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:614880	CHD7	55636	HP:0008734	Decreased testicular size
OMIM:614880	FGFR1	2260	HP:0000175	Cleft palate
OMIM:614880	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:614880	FGFR1	2260	HP:0000054	Micropenis
OMIM:614880	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:614880	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:614880	FGFR1	2260	HP:0008734	Decreased testicular size
OMIM:614880	HESX1	8820	HP:0000175	Cleft palate
OMIM:614880	HESX1	8820	HP:0000786	Primary amenorrhea
OMIM:614880	HESX1	8820	HP:0000054	Micropenis
OMIM:614880	HESX1	8820	HP:0000028	Cryptorchidism
OMIM:614880	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:614880	HESX1	8820	HP:0008734	Decreased testicular size
OMIM:614880	TACR3	6870	HP:0000175	Cleft palate
OMIM:614880	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:614880	TACR3	6870	HP:0000054	Micropenis
OMIM:614880	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:614880	TACR3	6870	HP:0000006	Autosomal dominant inheritance
OMIM:614880	TACR3	6870	HP:0008734	Decreased testicular size
OMIM:614880	FGF17	8822	HP:0000175	Cleft palate
OMIM:614880	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:614880	FGF17	8822	HP:0000054	Micropenis
OMIM:614880	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:614880	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:614880	FGF17	8822	HP:0008734	Decreased testicular size
OMIM:614880	FLRT3	23767	HP:0000175	Cleft palate
OMIM:614880	FLRT3	23767	HP:0000786	Primary amenorrhea
OMIM:614880	FLRT3	23767	HP:0000054	Micropenis
OMIM:614880	FLRT3	23767	HP:0000028	Cryptorchidism
OMIM:614880	FLRT3	23767	HP:0000006	Autosomal dominant inheritance
OMIM:614880	FLRT3	23767	HP:0008734	Decreased testicular size
OMIM:614880	DUSP6	1848	HP:0000175	Cleft palate
OMIM:614880	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:614880	DUSP6	1848	HP:0000054	Micropenis
OMIM:614880	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:614880	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:614880	DUSP6	1848	HP:0008734	Decreased testicular size
OMIM:614880	SPRY4	81848	HP:0000175	Cleft palate
OMIM:614880	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:614880	SPRY4	81848	HP:0000054	Micropenis
OMIM:614880	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:614880	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:614880	SPRY4	81848	HP:0008734	Decreased testicular size
OMIM:614880	KISS1R	84634	HP:0000175	Cleft palate
OMIM:614880	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:614880	KISS1R	84634	HP:0000054	Micropenis
OMIM:614880	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:614880	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:614880	KISS1R	84634	HP:0008734	Decreased testicular size
OMIM:614880	NSMF	26012	HP:0000175	Cleft palate
OMIM:614880	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:614880	NSMF	26012	HP:0000054	Micropenis
OMIM:614880	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:614880	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:614880	NSMF	26012	HP:0008734	Decreased testicular size
OMIM:263570	GBE1	2632	HP:0002311	Incoordination
OMIM:263570	GBE1	2632	HP:0001276	Hypertonia
OMIM:263570	GBE1	2632	HP:0003457	EMG abnormality
OMIM:263570	GBE1	2632	HP:0012211	Abnormal renal physiology
OMIM:263570	GBE1	2632	HP:0003581	Adult onset
OMIM:263570	GBE1	2632	HP:0100543	Cognitive impairment
OMIM:263570	GBE1	2632	HP:0000708	Behavioral abnormality
OMIM:263570	GBE1	2632	HP:0001324	Muscle weakness
OMIM:263570	GBE1	2632	HP:0002127	Abnormal upper motor neuron morphology
OMIM:263570	GBE1	2632	HP:0002376	Developmental regression
OMIM:263570	GBE1	2632	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:263570	GBE1	2632	HP:0004374	Hemiplegia/hemiparesis
OMIM:263570	GBE1	2632	HP:0003401	Paresthesia
OMIM:263570	GBE1	2632	HP:0009830	Peripheral neuropathy
OMIM:263570	GBE1	2632	HP:0001376	Limitation of joint mobility
OMIM:263570	GBE1	2632	HP:0007256	Abnormal pyramidal signs
OMIM:263570	GBE1	2632	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:263570	GBE1	2632	HP:0000007	Autosomal recessive inheritance
OMIM:263570	GBE1	2632	HP:0003677	Slow progression
OMIM:263570	GBE1	2632	HP:0200042	Skin ulcer
OMIM:263570	GBE1	2632	HP:0001288	Gait disturbance
OMIM:263570	GBE1	2632	HP:0002936	Distal sensory impairment
OMIM:263570	GBE1	2632	HP:0002500	Abnormality of the cerebral white matter
OMIM:601152	SLC25A46	91137	HP:0003690	Limb muscle weakness
OMIM:601152	SLC25A46	91137	HP:0003376	Steppage gait
OMIM:601152	SLC25A46	91137	HP:0000007	Autosomal recessive inheritance
OMIM:601152	SLC25A46	91137	HP:0001265	Hyporeflexia
OMIM:601152	SLC25A46	91137	HP:0002936	Distal sensory impairment
OMIM:601152	SLC25A46	91137	HP:0001284	Areflexia
OMIM:601152	SLC25A46	91137	HP:0000551	Abnormality of color vision
OMIM:601152	SLC25A46	91137	HP:0002650	Scoliosis
OMIM:601152	SLC25A46	91137	HP:0000360	Tinnitus
OMIM:601152	SLC25A46	91137	HP:0000543	Optic disc pallor
OMIM:601152	SLC25A46	91137	HP:0002460	Distal muscle weakness
OMIM:601152	SLC25A46	91137	HP:0000648	Optic atrophy
OMIM:601152	SLC25A46	91137	HP:0000649	Abnormality of visual evoked potentials
OMIM:601152	SLC25A46	91137	HP:0002938	Lumbar hyperlordosis
OMIM:601152	SLC25A46	91137	HP:0003431	Decreased motor nerve conduction velocity
OMIM:601152	SLC25A46	91137	HP:0003693	Distal amyotrophy
OMIM:601152	SLC25A46	91137	HP:0003593	Infantile onset
OMIM:601152	SLC25A46	91137	HP:0000458	Anosmia
OMIM:601152	SLC25A46	91137	HP:0001761	Pes cavus
OMIM:601152	SLC25A46	91137	HP:0003701	Proximal muscle weakness
OMIM:601152	SLC25A46	91137	HP:0000006	Autosomal dominant inheritance
OMIM:601152	SLC25A46	91137	HP:0000603	Central scotoma
OMIM:601152	SLC25A46	91137	HP:0007924	Slow decrease in visual acuity
OMIM:601152	SLC25A46	91137	HP:0001604	Vocal cord paresis
OMIM:601152	MFN2	9927	HP:0003690	Limb muscle weakness
OMIM:601152	MFN2	9927	HP:0003376	Steppage gait
OMIM:601152	MFN2	9927	HP:0000007	Autosomal recessive inheritance
OMIM:601152	MFN2	9927	HP:0001265	Hyporeflexia
OMIM:601152	MFN2	9927	HP:0002936	Distal sensory impairment
OMIM:601152	MFN2	9927	HP:0001284	Areflexia
OMIM:601152	MFN2	9927	HP:0000551	Abnormality of color vision
OMIM:601152	MFN2	9927	HP:0002650	Scoliosis
OMIM:601152	MFN2	9927	HP:0000360	Tinnitus
OMIM:601152	MFN2	9927	HP:0000543	Optic disc pallor
OMIM:601152	MFN2	9927	HP:0002460	Distal muscle weakness
OMIM:601152	MFN2	9927	HP:0000648	Optic atrophy
OMIM:601152	MFN2	9927	HP:0000649	Abnormality of visual evoked potentials
OMIM:601152	MFN2	9927	HP:0002938	Lumbar hyperlordosis
OMIM:601152	MFN2	9927	HP:0003431	Decreased motor nerve conduction velocity
OMIM:601152	MFN2	9927	HP:0003693	Distal amyotrophy
OMIM:601152	MFN2	9927	HP:0003593	Infantile onset
OMIM:601152	MFN2	9927	HP:0000458	Anosmia
OMIM:601152	MFN2	9927	HP:0001761	Pes cavus
OMIM:601152	MFN2	9927	HP:0003701	Proximal muscle weakness
OMIM:601152	MFN2	9927	HP:0000006	Autosomal dominant inheritance
OMIM:601152	MFN2	9927	HP:0000603	Central scotoma
OMIM:601152	MFN2	9927	HP:0007924	Slow decrease in visual acuity
OMIM:601152	MFN2	9927	HP:0001604	Vocal cord paresis
OMIM:227650	FANCC	2176	HP:0009778	Short thumb
OMIM:227650	FANCC	2176	HP:0000028	Cryptorchidism
OMIM:227650	FANCC	2176	HP:0000365	Hearing impairment
OMIM:227650	FANCC	2176	HP:0001518	Small for gestational age
OMIM:227650	FANCC	2176	HP:0001876	Pancytopenia
OMIM:227650	FANCC	2176	HP:0000252	Microcephaly
OMIM:227650	FANCC	2176	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	FANCC	2176	HP:0000568	Microphthalmia
OMIM:227650	FANCC	2176	HP:0000081	Duplicated collecting system
OMIM:227650	FANCC	2176	HP:0001875	Neutropenia
OMIM:227650	FANCC	2176	HP:0000104	Renal agenesis
OMIM:227650	FANCC	2176	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	FANCC	2176	HP:0004322	Short stature
OMIM:227650	FANCC	2176	HP:0000486	Strabismus
OMIM:227650	FANCC	2176	HP:0001903	Anemia
OMIM:227650	FANCC	2176	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	FANCC	2176	HP:0000957	Cafe-au-lait spot
OMIM:227650	FANCC	2176	HP:0001017	Anemic pallor
OMIM:227650	FANCC	2176	HP:0001873	Thrombocytopenia
OMIM:227650	FANCC	2176	HP:0009777	Absent thumb
OMIM:227650	FANCC	2176	HP:0001249	Intellectual disability
OMIM:227650	FANCC	2176	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	FANCC	2176	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	FANCC	2176	HP:0003974	Absent radius
OMIM:227650	FANCC	2176	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	FANCC	2176	HP:0000978	Bruising susceptibility
OMIM:227650	FANCC	2176	HP:0001909	Leukemia
OMIM:227650	FANCC	2176	HP:0000085	Horseshoe kidney
OMIM:227650	FANCC	2176	HP:0001896	Reticulocytopenia
OMIM:227650	FANCC	2176	HP:0000086	Ectopic kidney
OMIM:227650	FANCC	2176	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	FANCD2	2177	HP:0009778	Short thumb
OMIM:227650	FANCD2	2177	HP:0000028	Cryptorchidism
OMIM:227650	FANCD2	2177	HP:0000365	Hearing impairment
OMIM:227650	FANCD2	2177	HP:0001518	Small for gestational age
OMIM:227650	FANCD2	2177	HP:0001876	Pancytopenia
OMIM:227650	FANCD2	2177	HP:0000252	Microcephaly
OMIM:227650	FANCD2	2177	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	FANCD2	2177	HP:0000568	Microphthalmia
OMIM:227650	FANCD2	2177	HP:0000081	Duplicated collecting system
OMIM:227650	FANCD2	2177	HP:0001875	Neutropenia
OMIM:227650	FANCD2	2177	HP:0000104	Renal agenesis
OMIM:227650	FANCD2	2177	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	FANCD2	2177	HP:0004322	Short stature
OMIM:227650	FANCD2	2177	HP:0000486	Strabismus
OMIM:227650	FANCD2	2177	HP:0001903	Anemia
OMIM:227650	FANCD2	2177	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	FANCD2	2177	HP:0000957	Cafe-au-lait spot
OMIM:227650	FANCD2	2177	HP:0001017	Anemic pallor
OMIM:227650	FANCD2	2177	HP:0001873	Thrombocytopenia
OMIM:227650	FANCD2	2177	HP:0009777	Absent thumb
OMIM:227650	FANCD2	2177	HP:0001249	Intellectual disability
OMIM:227650	FANCD2	2177	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	FANCD2	2177	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	FANCD2	2177	HP:0003974	Absent radius
OMIM:227650	FANCD2	2177	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	FANCD2	2177	HP:0000978	Bruising susceptibility
OMIM:227650	FANCD2	2177	HP:0001909	Leukemia
OMIM:227650	FANCD2	2177	HP:0000085	Horseshoe kidney
OMIM:227650	FANCD2	2177	HP:0001896	Reticulocytopenia
OMIM:227650	FANCD2	2177	HP:0000086	Ectopic kidney
OMIM:227650	FANCD2	2177	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	FANCM	57697	HP:0009778	Short thumb
OMIM:227650	FANCM	57697	HP:0000028	Cryptorchidism
OMIM:227650	FANCM	57697	HP:0000365	Hearing impairment
OMIM:227650	FANCM	57697	HP:0001518	Small for gestational age
OMIM:227650	FANCM	57697	HP:0001876	Pancytopenia
OMIM:227650	FANCM	57697	HP:0000252	Microcephaly
OMIM:227650	FANCM	57697	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	FANCM	57697	HP:0000568	Microphthalmia
OMIM:227650	FANCM	57697	HP:0000081	Duplicated collecting system
OMIM:227650	FANCM	57697	HP:0001875	Neutropenia
OMIM:227650	FANCM	57697	HP:0000104	Renal agenesis
OMIM:227650	FANCM	57697	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	FANCM	57697	HP:0004322	Short stature
OMIM:227650	FANCM	57697	HP:0000486	Strabismus
OMIM:227650	FANCM	57697	HP:0001903	Anemia
OMIM:227650	FANCM	57697	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	FANCM	57697	HP:0000957	Cafe-au-lait spot
OMIM:227650	FANCM	57697	HP:0001017	Anemic pallor
OMIM:227650	FANCM	57697	HP:0001873	Thrombocytopenia
OMIM:227650	FANCM	57697	HP:0009777	Absent thumb
OMIM:227650	FANCM	57697	HP:0001249	Intellectual disability
OMIM:227650	FANCM	57697	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	FANCM	57697	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	FANCM	57697	HP:0003974	Absent radius
OMIM:227650	FANCM	57697	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	FANCM	57697	HP:0000978	Bruising susceptibility
OMIM:227650	FANCM	57697	HP:0001909	Leukemia
OMIM:227650	FANCM	57697	HP:0000085	Horseshoe kidney
OMIM:227650	FANCM	57697	HP:0001896	Reticulocytopenia
OMIM:227650	FANCM	57697	HP:0000086	Ectopic kidney
OMIM:227650	FANCM	57697	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	RAD51C	5889	HP:0009778	Short thumb
OMIM:227650	RAD51C	5889	HP:0000028	Cryptorchidism
OMIM:227650	RAD51C	5889	HP:0000365	Hearing impairment
OMIM:227650	RAD51C	5889	HP:0001518	Small for gestational age
OMIM:227650	RAD51C	5889	HP:0001876	Pancytopenia
OMIM:227650	RAD51C	5889	HP:0000252	Microcephaly
OMIM:227650	RAD51C	5889	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	RAD51C	5889	HP:0000568	Microphthalmia
OMIM:227650	RAD51C	5889	HP:0000081	Duplicated collecting system
OMIM:227650	RAD51C	5889	HP:0001875	Neutropenia
OMIM:227650	RAD51C	5889	HP:0000104	Renal agenesis
OMIM:227650	RAD51C	5889	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	RAD51C	5889	HP:0004322	Short stature
OMIM:227650	RAD51C	5889	HP:0000486	Strabismus
OMIM:227650	RAD51C	5889	HP:0001903	Anemia
OMIM:227650	RAD51C	5889	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	RAD51C	5889	HP:0000957	Cafe-au-lait spot
OMIM:227650	RAD51C	5889	HP:0001017	Anemic pallor
OMIM:227650	RAD51C	5889	HP:0001873	Thrombocytopenia
OMIM:227650	RAD51C	5889	HP:0009777	Absent thumb
OMIM:227650	RAD51C	5889	HP:0001249	Intellectual disability
OMIM:227650	RAD51C	5889	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	RAD51C	5889	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	RAD51C	5889	HP:0003974	Absent radius
OMIM:227650	RAD51C	5889	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	RAD51C	5889	HP:0000978	Bruising susceptibility
OMIM:227650	RAD51C	5889	HP:0001909	Leukemia
OMIM:227650	RAD51C	5889	HP:0000085	Horseshoe kidney
OMIM:227650	RAD51C	5889	HP:0001896	Reticulocytopenia
OMIM:227650	RAD51C	5889	HP:0000086	Ectopic kidney
OMIM:227650	RAD51C	5889	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	UBE2T	29089	HP:0009778	Short thumb
OMIM:227650	UBE2T	29089	HP:0000028	Cryptorchidism
OMIM:227650	UBE2T	29089	HP:0000365	Hearing impairment
OMIM:227650	UBE2T	29089	HP:0001518	Small for gestational age
OMIM:227650	UBE2T	29089	HP:0001876	Pancytopenia
OMIM:227650	UBE2T	29089	HP:0000252	Microcephaly
OMIM:227650	UBE2T	29089	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	UBE2T	29089	HP:0000568	Microphthalmia
OMIM:227650	UBE2T	29089	HP:0000081	Duplicated collecting system
OMIM:227650	UBE2T	29089	HP:0001875	Neutropenia
OMIM:227650	UBE2T	29089	HP:0000104	Renal agenesis
OMIM:227650	UBE2T	29089	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	UBE2T	29089	HP:0004322	Short stature
OMIM:227650	UBE2T	29089	HP:0000486	Strabismus
OMIM:227650	UBE2T	29089	HP:0001903	Anemia
OMIM:227650	UBE2T	29089	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	UBE2T	29089	HP:0000957	Cafe-au-lait spot
OMIM:227650	UBE2T	29089	HP:0001017	Anemic pallor
OMIM:227650	UBE2T	29089	HP:0001873	Thrombocytopenia
OMIM:227650	UBE2T	29089	HP:0009777	Absent thumb
OMIM:227650	UBE2T	29089	HP:0001249	Intellectual disability
OMIM:227650	UBE2T	29089	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	UBE2T	29089	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	UBE2T	29089	HP:0003974	Absent radius
OMIM:227650	UBE2T	29089	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	UBE2T	29089	HP:0000978	Bruising susceptibility
OMIM:227650	UBE2T	29089	HP:0001909	Leukemia
OMIM:227650	UBE2T	29089	HP:0000085	Horseshoe kidney
OMIM:227650	UBE2T	29089	HP:0001896	Reticulocytopenia
OMIM:227650	UBE2T	29089	HP:0000086	Ectopic kidney
OMIM:227650	UBE2T	29089	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	FANCE	2178	HP:0009778	Short thumb
OMIM:227650	FANCE	2178	HP:0000028	Cryptorchidism
OMIM:227650	FANCE	2178	HP:0000365	Hearing impairment
OMIM:227650	FANCE	2178	HP:0001518	Small for gestational age
OMIM:227650	FANCE	2178	HP:0001876	Pancytopenia
OMIM:227650	FANCE	2178	HP:0000252	Microcephaly
OMIM:227650	FANCE	2178	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	FANCE	2178	HP:0000568	Microphthalmia
OMIM:227650	FANCE	2178	HP:0000081	Duplicated collecting system
OMIM:227650	FANCE	2178	HP:0001875	Neutropenia
OMIM:227650	FANCE	2178	HP:0000104	Renal agenesis
OMIM:227650	FANCE	2178	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	FANCE	2178	HP:0004322	Short stature
OMIM:227650	FANCE	2178	HP:0000486	Strabismus
OMIM:227650	FANCE	2178	HP:0001903	Anemia
OMIM:227650	FANCE	2178	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	FANCE	2178	HP:0000957	Cafe-au-lait spot
OMIM:227650	FANCE	2178	HP:0001017	Anemic pallor
OMIM:227650	FANCE	2178	HP:0001873	Thrombocytopenia
OMIM:227650	FANCE	2178	HP:0009777	Absent thumb
OMIM:227650	FANCE	2178	HP:0001249	Intellectual disability
OMIM:227650	FANCE	2178	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	FANCE	2178	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	FANCE	2178	HP:0003974	Absent radius
OMIM:227650	FANCE	2178	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	FANCE	2178	HP:0000978	Bruising susceptibility
OMIM:227650	FANCE	2178	HP:0001909	Leukemia
OMIM:227650	FANCE	2178	HP:0000085	Horseshoe kidney
OMIM:227650	FANCE	2178	HP:0001896	Reticulocytopenia
OMIM:227650	FANCE	2178	HP:0000086	Ectopic kidney
OMIM:227650	FANCE	2178	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	BRCA2	675	HP:0009778	Short thumb
OMIM:227650	BRCA2	675	HP:0000028	Cryptorchidism
OMIM:227650	BRCA2	675	HP:0000365	Hearing impairment
OMIM:227650	BRCA2	675	HP:0001518	Small for gestational age
OMIM:227650	BRCA2	675	HP:0001876	Pancytopenia
OMIM:227650	BRCA2	675	HP:0000252	Microcephaly
OMIM:227650	BRCA2	675	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	BRCA2	675	HP:0000568	Microphthalmia
OMIM:227650	BRCA2	675	HP:0000081	Duplicated collecting system
OMIM:227650	BRCA2	675	HP:0001875	Neutropenia
OMIM:227650	BRCA2	675	HP:0000104	Renal agenesis
OMIM:227650	BRCA2	675	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	BRCA2	675	HP:0004322	Short stature
OMIM:227650	BRCA2	675	HP:0000486	Strabismus
OMIM:227650	BRCA2	675	HP:0001903	Anemia
OMIM:227650	BRCA2	675	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	BRCA2	675	HP:0000957	Cafe-au-lait spot
OMIM:227650	BRCA2	675	HP:0001017	Anemic pallor
OMIM:227650	BRCA2	675	HP:0001873	Thrombocytopenia
OMIM:227650	BRCA2	675	HP:0009777	Absent thumb
OMIM:227650	BRCA2	675	HP:0001249	Intellectual disability
OMIM:227650	BRCA2	675	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	BRCA2	675	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	BRCA2	675	HP:0003974	Absent radius
OMIM:227650	BRCA2	675	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	BRCA2	675	HP:0000978	Bruising susceptibility
OMIM:227650	BRCA2	675	HP:0001909	Leukemia
OMIM:227650	BRCA2	675	HP:0000085	Horseshoe kidney
OMIM:227650	BRCA2	675	HP:0001896	Reticulocytopenia
OMIM:227650	BRCA2	675	HP:0000086	Ectopic kidney
OMIM:227650	BRCA2	675	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	FANCB	2187	HP:0009778	Short thumb
OMIM:227650	FANCB	2187	HP:0000028	Cryptorchidism
OMIM:227650	FANCB	2187	HP:0000365	Hearing impairment
OMIM:227650	FANCB	2187	HP:0001518	Small for gestational age
OMIM:227650	FANCB	2187	HP:0001876	Pancytopenia
OMIM:227650	FANCB	2187	HP:0000252	Microcephaly
OMIM:227650	FANCB	2187	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	FANCB	2187	HP:0000568	Microphthalmia
OMIM:227650	FANCB	2187	HP:0000081	Duplicated collecting system
OMIM:227650	FANCB	2187	HP:0001875	Neutropenia
OMIM:227650	FANCB	2187	HP:0000104	Renal agenesis
OMIM:227650	FANCB	2187	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	FANCB	2187	HP:0004322	Short stature
OMIM:227650	FANCB	2187	HP:0000486	Strabismus
OMIM:227650	FANCB	2187	HP:0001903	Anemia
OMIM:227650	FANCB	2187	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	FANCB	2187	HP:0000957	Cafe-au-lait spot
OMIM:227650	FANCB	2187	HP:0001017	Anemic pallor
OMIM:227650	FANCB	2187	HP:0001873	Thrombocytopenia
OMIM:227650	FANCB	2187	HP:0009777	Absent thumb
OMIM:227650	FANCB	2187	HP:0001249	Intellectual disability
OMIM:227650	FANCB	2187	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	FANCB	2187	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	FANCB	2187	HP:0003974	Absent radius
OMIM:227650	FANCB	2187	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	FANCB	2187	HP:0000978	Bruising susceptibility
OMIM:227650	FANCB	2187	HP:0001909	Leukemia
OMIM:227650	FANCB	2187	HP:0000085	Horseshoe kidney
OMIM:227650	FANCB	2187	HP:0001896	Reticulocytopenia
OMIM:227650	FANCB	2187	HP:0000086	Ectopic kidney
OMIM:227650	FANCB	2187	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	FANCF	2188	HP:0009778	Short thumb
OMIM:227650	FANCF	2188	HP:0000028	Cryptorchidism
OMIM:227650	FANCF	2188	HP:0000365	Hearing impairment
OMIM:227650	FANCF	2188	HP:0001518	Small for gestational age
OMIM:227650	FANCF	2188	HP:0001876	Pancytopenia
OMIM:227650	FANCF	2188	HP:0000252	Microcephaly
OMIM:227650	FANCF	2188	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	FANCF	2188	HP:0000568	Microphthalmia
OMIM:227650	FANCF	2188	HP:0000081	Duplicated collecting system
OMIM:227650	FANCF	2188	HP:0001875	Neutropenia
OMIM:227650	FANCF	2188	HP:0000104	Renal agenesis
OMIM:227650	FANCF	2188	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	FANCF	2188	HP:0004322	Short stature
OMIM:227650	FANCF	2188	HP:0000486	Strabismus
OMIM:227650	FANCF	2188	HP:0001903	Anemia
OMIM:227650	FANCF	2188	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	FANCF	2188	HP:0000957	Cafe-au-lait spot
OMIM:227650	FANCF	2188	HP:0001017	Anemic pallor
OMIM:227650	FANCF	2188	HP:0001873	Thrombocytopenia
OMIM:227650	FANCF	2188	HP:0009777	Absent thumb
OMIM:227650	FANCF	2188	HP:0001249	Intellectual disability
OMIM:227650	FANCF	2188	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	FANCF	2188	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	FANCF	2188	HP:0003974	Absent radius
OMIM:227650	FANCF	2188	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	FANCF	2188	HP:0000978	Bruising susceptibility
OMIM:227650	FANCF	2188	HP:0001909	Leukemia
OMIM:227650	FANCF	2188	HP:0000085	Horseshoe kidney
OMIM:227650	FANCF	2188	HP:0001896	Reticulocytopenia
OMIM:227650	FANCF	2188	HP:0000086	Ectopic kidney
OMIM:227650	FANCF	2188	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	FANCG	2189	HP:0009778	Short thumb
OMIM:227650	FANCG	2189	HP:0000028	Cryptorchidism
OMIM:227650	FANCG	2189	HP:0000365	Hearing impairment
OMIM:227650	FANCG	2189	HP:0001518	Small for gestational age
OMIM:227650	FANCG	2189	HP:0001876	Pancytopenia
OMIM:227650	FANCG	2189	HP:0000252	Microcephaly
OMIM:227650	FANCG	2189	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	FANCG	2189	HP:0000568	Microphthalmia
OMIM:227650	FANCG	2189	HP:0000081	Duplicated collecting system
OMIM:227650	FANCG	2189	HP:0001875	Neutropenia
OMIM:227650	FANCG	2189	HP:0000104	Renal agenesis
OMIM:227650	FANCG	2189	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	FANCG	2189	HP:0004322	Short stature
OMIM:227650	FANCG	2189	HP:0000486	Strabismus
OMIM:227650	FANCG	2189	HP:0001903	Anemia
OMIM:227650	FANCG	2189	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	FANCG	2189	HP:0000957	Cafe-au-lait spot
OMIM:227650	FANCG	2189	HP:0001017	Anemic pallor
OMIM:227650	FANCG	2189	HP:0001873	Thrombocytopenia
OMIM:227650	FANCG	2189	HP:0009777	Absent thumb
OMIM:227650	FANCG	2189	HP:0001249	Intellectual disability
OMIM:227650	FANCG	2189	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	FANCG	2189	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	FANCG	2189	HP:0003974	Absent radius
OMIM:227650	FANCG	2189	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	FANCG	2189	HP:0000978	Bruising susceptibility
OMIM:227650	FANCG	2189	HP:0001909	Leukemia
OMIM:227650	FANCG	2189	HP:0000085	Horseshoe kidney
OMIM:227650	FANCG	2189	HP:0001896	Reticulocytopenia
OMIM:227650	FANCG	2189	HP:0000086	Ectopic kidney
OMIM:227650	FANCG	2189	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	FANCI	55215	HP:0009778	Short thumb
OMIM:227650	FANCI	55215	HP:0000028	Cryptorchidism
OMIM:227650	FANCI	55215	HP:0000365	Hearing impairment
OMIM:227650	FANCI	55215	HP:0001518	Small for gestational age
OMIM:227650	FANCI	55215	HP:0001876	Pancytopenia
OMIM:227650	FANCI	55215	HP:0000252	Microcephaly
OMIM:227650	FANCI	55215	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	FANCI	55215	HP:0000568	Microphthalmia
OMIM:227650	FANCI	55215	HP:0000081	Duplicated collecting system
OMIM:227650	FANCI	55215	HP:0001875	Neutropenia
OMIM:227650	FANCI	55215	HP:0000104	Renal agenesis
OMIM:227650	FANCI	55215	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	FANCI	55215	HP:0004322	Short stature
OMIM:227650	FANCI	55215	HP:0000486	Strabismus
OMIM:227650	FANCI	55215	HP:0001903	Anemia
OMIM:227650	FANCI	55215	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	FANCI	55215	HP:0000957	Cafe-au-lait spot
OMIM:227650	FANCI	55215	HP:0001017	Anemic pallor
OMIM:227650	FANCI	55215	HP:0001873	Thrombocytopenia
OMIM:227650	FANCI	55215	HP:0009777	Absent thumb
OMIM:227650	FANCI	55215	HP:0001249	Intellectual disability
OMIM:227650	FANCI	55215	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	FANCI	55215	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	FANCI	55215	HP:0003974	Absent radius
OMIM:227650	FANCI	55215	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	FANCI	55215	HP:0000978	Bruising susceptibility
OMIM:227650	FANCI	55215	HP:0001909	Leukemia
OMIM:227650	FANCI	55215	HP:0000085	Horseshoe kidney
OMIM:227650	FANCI	55215	HP:0001896	Reticulocytopenia
OMIM:227650	FANCI	55215	HP:0000086	Ectopic kidney
OMIM:227650	FANCI	55215	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	FANCL	55120	HP:0009778	Short thumb
OMIM:227650	FANCL	55120	HP:0000028	Cryptorchidism
OMIM:227650	FANCL	55120	HP:0000365	Hearing impairment
OMIM:227650	FANCL	55120	HP:0001518	Small for gestational age
OMIM:227650	FANCL	55120	HP:0001876	Pancytopenia
OMIM:227650	FANCL	55120	HP:0000252	Microcephaly
OMIM:227650	FANCL	55120	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	FANCL	55120	HP:0000568	Microphthalmia
OMIM:227650	FANCL	55120	HP:0000081	Duplicated collecting system
OMIM:227650	FANCL	55120	HP:0001875	Neutropenia
OMIM:227650	FANCL	55120	HP:0000104	Renal agenesis
OMIM:227650	FANCL	55120	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	FANCL	55120	HP:0004322	Short stature
OMIM:227650	FANCL	55120	HP:0000486	Strabismus
OMIM:227650	FANCL	55120	HP:0001903	Anemia
OMIM:227650	FANCL	55120	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	FANCL	55120	HP:0000957	Cafe-au-lait spot
OMIM:227650	FANCL	55120	HP:0001017	Anemic pallor
OMIM:227650	FANCL	55120	HP:0001873	Thrombocytopenia
OMIM:227650	FANCL	55120	HP:0009777	Absent thumb
OMIM:227650	FANCL	55120	HP:0001249	Intellectual disability
OMIM:227650	FANCL	55120	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	FANCL	55120	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	FANCL	55120	HP:0003974	Absent radius
OMIM:227650	FANCL	55120	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	FANCL	55120	HP:0000978	Bruising susceptibility
OMIM:227650	FANCL	55120	HP:0001909	Leukemia
OMIM:227650	FANCL	55120	HP:0000085	Horseshoe kidney
OMIM:227650	FANCL	55120	HP:0001896	Reticulocytopenia
OMIM:227650	FANCL	55120	HP:0000086	Ectopic kidney
OMIM:227650	FANCL	55120	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	PALB2	79728	HP:0009778	Short thumb
OMIM:227650	PALB2	79728	HP:0000028	Cryptorchidism
OMIM:227650	PALB2	79728	HP:0000365	Hearing impairment
OMIM:227650	PALB2	79728	HP:0001518	Small for gestational age
OMIM:227650	PALB2	79728	HP:0001876	Pancytopenia
OMIM:227650	PALB2	79728	HP:0000252	Microcephaly
OMIM:227650	PALB2	79728	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	PALB2	79728	HP:0000568	Microphthalmia
OMIM:227650	PALB2	79728	HP:0000081	Duplicated collecting system
OMIM:227650	PALB2	79728	HP:0001875	Neutropenia
OMIM:227650	PALB2	79728	HP:0000104	Renal agenesis
OMIM:227650	PALB2	79728	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	PALB2	79728	HP:0004322	Short stature
OMIM:227650	PALB2	79728	HP:0000486	Strabismus
OMIM:227650	PALB2	79728	HP:0001903	Anemia
OMIM:227650	PALB2	79728	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	PALB2	79728	HP:0000957	Cafe-au-lait spot
OMIM:227650	PALB2	79728	HP:0001017	Anemic pallor
OMIM:227650	PALB2	79728	HP:0001873	Thrombocytopenia
OMIM:227650	PALB2	79728	HP:0009777	Absent thumb
OMIM:227650	PALB2	79728	HP:0001249	Intellectual disability
OMIM:227650	PALB2	79728	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	PALB2	79728	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	PALB2	79728	HP:0003974	Absent radius
OMIM:227650	PALB2	79728	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	PALB2	79728	HP:0000978	Bruising susceptibility
OMIM:227650	PALB2	79728	HP:0001909	Leukemia
OMIM:227650	PALB2	79728	HP:0000085	Horseshoe kidney
OMIM:227650	PALB2	79728	HP:0001896	Reticulocytopenia
OMIM:227650	PALB2	79728	HP:0000086	Ectopic kidney
OMIM:227650	PALB2	79728	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	SLX4	84464	HP:0009778	Short thumb
OMIM:227650	SLX4	84464	HP:0000028	Cryptorchidism
OMIM:227650	SLX4	84464	HP:0000365	Hearing impairment
OMIM:227650	SLX4	84464	HP:0001518	Small for gestational age
OMIM:227650	SLX4	84464	HP:0001876	Pancytopenia
OMIM:227650	SLX4	84464	HP:0000252	Microcephaly
OMIM:227650	SLX4	84464	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	SLX4	84464	HP:0000568	Microphthalmia
OMIM:227650	SLX4	84464	HP:0000081	Duplicated collecting system
OMIM:227650	SLX4	84464	HP:0001875	Neutropenia
OMIM:227650	SLX4	84464	HP:0000104	Renal agenesis
OMIM:227650	SLX4	84464	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	SLX4	84464	HP:0004322	Short stature
OMIM:227650	SLX4	84464	HP:0000486	Strabismus
OMIM:227650	SLX4	84464	HP:0001903	Anemia
OMIM:227650	SLX4	84464	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	SLX4	84464	HP:0000957	Cafe-au-lait spot
OMIM:227650	SLX4	84464	HP:0001017	Anemic pallor
OMIM:227650	SLX4	84464	HP:0001873	Thrombocytopenia
OMIM:227650	SLX4	84464	HP:0009777	Absent thumb
OMIM:227650	SLX4	84464	HP:0001249	Intellectual disability
OMIM:227650	SLX4	84464	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	SLX4	84464	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	SLX4	84464	HP:0003974	Absent radius
OMIM:227650	SLX4	84464	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	SLX4	84464	HP:0000978	Bruising susceptibility
OMIM:227650	SLX4	84464	HP:0001909	Leukemia
OMIM:227650	SLX4	84464	HP:0000085	Horseshoe kidney
OMIM:227650	SLX4	84464	HP:0001896	Reticulocytopenia
OMIM:227650	SLX4	84464	HP:0000086	Ectopic kidney
OMIM:227650	SLX4	84464	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	BRIP1	83990	HP:0009778	Short thumb
OMIM:227650	BRIP1	83990	HP:0000028	Cryptorchidism
OMIM:227650	BRIP1	83990	HP:0000365	Hearing impairment
OMIM:227650	BRIP1	83990	HP:0001518	Small for gestational age
OMIM:227650	BRIP1	83990	HP:0001876	Pancytopenia
OMIM:227650	BRIP1	83990	HP:0000252	Microcephaly
OMIM:227650	BRIP1	83990	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	BRIP1	83990	HP:0000568	Microphthalmia
OMIM:227650	BRIP1	83990	HP:0000081	Duplicated collecting system
OMIM:227650	BRIP1	83990	HP:0001875	Neutropenia
OMIM:227650	BRIP1	83990	HP:0000104	Renal agenesis
OMIM:227650	BRIP1	83990	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	BRIP1	83990	HP:0004322	Short stature
OMIM:227650	BRIP1	83990	HP:0000486	Strabismus
OMIM:227650	BRIP1	83990	HP:0001903	Anemia
OMIM:227650	BRIP1	83990	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	BRIP1	83990	HP:0000957	Cafe-au-lait spot
OMIM:227650	BRIP1	83990	HP:0001017	Anemic pallor
OMIM:227650	BRIP1	83990	HP:0001873	Thrombocytopenia
OMIM:227650	BRIP1	83990	HP:0009777	Absent thumb
OMIM:227650	BRIP1	83990	HP:0001249	Intellectual disability
OMIM:227650	BRIP1	83990	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	BRIP1	83990	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	BRIP1	83990	HP:0003974	Absent radius
OMIM:227650	BRIP1	83990	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	BRIP1	83990	HP:0000978	Bruising susceptibility
OMIM:227650	BRIP1	83990	HP:0001909	Leukemia
OMIM:227650	BRIP1	83990	HP:0000085	Horseshoe kidney
OMIM:227650	BRIP1	83990	HP:0001896	Reticulocytopenia
OMIM:227650	BRIP1	83990	HP:0000086	Ectopic kidney
OMIM:227650	BRIP1	83990	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	ERCC4	2072	HP:0009778	Short thumb
OMIM:227650	ERCC4	2072	HP:0000028	Cryptorchidism
OMIM:227650	ERCC4	2072	HP:0000365	Hearing impairment
OMIM:227650	ERCC4	2072	HP:0001518	Small for gestational age
OMIM:227650	ERCC4	2072	HP:0001876	Pancytopenia
OMIM:227650	ERCC4	2072	HP:0000252	Microcephaly
OMIM:227650	ERCC4	2072	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	ERCC4	2072	HP:0000568	Microphthalmia
OMIM:227650	ERCC4	2072	HP:0000081	Duplicated collecting system
OMIM:227650	ERCC4	2072	HP:0001875	Neutropenia
OMIM:227650	ERCC4	2072	HP:0000104	Renal agenesis
OMIM:227650	ERCC4	2072	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	ERCC4	2072	HP:0004322	Short stature
OMIM:227650	ERCC4	2072	HP:0000486	Strabismus
OMIM:227650	ERCC4	2072	HP:0001903	Anemia
OMIM:227650	ERCC4	2072	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	ERCC4	2072	HP:0000957	Cafe-au-lait spot
OMIM:227650	ERCC4	2072	HP:0001017	Anemic pallor
OMIM:227650	ERCC4	2072	HP:0001873	Thrombocytopenia
OMIM:227650	ERCC4	2072	HP:0009777	Absent thumb
OMIM:227650	ERCC4	2072	HP:0001249	Intellectual disability
OMIM:227650	ERCC4	2072	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	ERCC4	2072	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	ERCC4	2072	HP:0003974	Absent radius
OMIM:227650	ERCC4	2072	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	ERCC4	2072	HP:0000978	Bruising susceptibility
OMIM:227650	ERCC4	2072	HP:0001909	Leukemia
OMIM:227650	ERCC4	2072	HP:0000085	Horseshoe kidney
OMIM:227650	ERCC4	2072	HP:0001896	Reticulocytopenia
OMIM:227650	ERCC4	2072	HP:0000086	Ectopic kidney
OMIM:227650	ERCC4	2072	HP:0001000	Abnormality of skin pigmentation
OMIM:227650	FANCA	2175	HP:0009778	Short thumb
OMIM:227650	FANCA	2175	HP:0000028	Cryptorchidism
OMIM:227650	FANCA	2175	HP:0000365	Hearing impairment
OMIM:227650	FANCA	2175	HP:0001518	Small for gestational age
OMIM:227650	FANCA	2175	HP:0001876	Pancytopenia
OMIM:227650	FANCA	2175	HP:0000252	Microcephaly
OMIM:227650	FANCA	2175	HP:0003214	Prolonged G2 phase of cell cycle
OMIM:227650	FANCA	2175	HP:0000568	Microphthalmia
OMIM:227650	FANCA	2175	HP:0000081	Duplicated collecting system
OMIM:227650	FANCA	2175	HP:0001875	Neutropenia
OMIM:227650	FANCA	2175	HP:0000104	Renal agenesis
OMIM:227650	FANCA	2175	HP:0009943	Complete duplication of thumb phalanx
OMIM:227650	FANCA	2175	HP:0004322	Short stature
OMIM:227650	FANCA	2175	HP:0000486	Strabismus
OMIM:227650	FANCA	2175	HP:0001903	Anemia
OMIM:227650	FANCA	2175	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:227650	FANCA	2175	HP:0000957	Cafe-au-lait spot
OMIM:227650	FANCA	2175	HP:0001017	Anemic pallor
OMIM:227650	FANCA	2175	HP:0001873	Thrombocytopenia
OMIM:227650	FANCA	2175	HP:0009777	Absent thumb
OMIM:227650	FANCA	2175	HP:0001249	Intellectual disability
OMIM:227650	FANCA	2175	HP:0003221	Chromosomal breakage induced by crosslinking agents
OMIM:227650	FANCA	2175	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
OMIM:227650	FANCA	2175	HP:0003974	Absent radius
OMIM:227650	FANCA	2175	HP:0000815	Hypergonadotropic hypogonadism
OMIM:227650	FANCA	2175	HP:0000978	Bruising susceptibility
OMIM:227650	FANCA	2175	HP:0001909	Leukemia
OMIM:227650	FANCA	2175	HP:0000085	Horseshoe kidney
OMIM:227650	FANCA	2175	HP:0001896	Reticulocytopenia
OMIM:227650	FANCA	2175	HP:0000086	Ectopic kidney
OMIM:227650	FANCA	2175	HP:0001000	Abnormality of skin pigmentation
OMIM:612925	C3	718	HP:0001937	Microangiopathic hemolytic anemia
OMIM:612925	C3	718	HP:0003138	Increased blood urea nitrogen (BUN)
OMIM:612925	C3	718	HP:0005575	Hemolytic-uremic syndrome
OMIM:612925	C3	718	HP:0000093	Proteinuria
OMIM:612925	C3	718	HP:0100519	Anuria
OMIM:612925	C3	718	HP:0000822	Hypertension
OMIM:612925	C3	718	HP:0001873	Thrombocytopenia
OMIM:612925	C3	718	HP:0000006	Autosomal dominant inheritance
OMIM:612925	C3	718	HP:0001919	Acute kidney injury
OMIM:612925	C3	718	HP:0003259	Elevated serum creatinine
OMIM:612925	C3	718	HP:0000790	Hematuria
OMIM:300908	G6PD	2539	HP:0001923	Reticulocytosis
OMIM:300908	G6PD	2539	HP:0006579	Prolonged neonatal jaundice
OMIM:616200	SPRTN	83932	HP:0000347	Micrognathia
OMIM:616200	SPRTN	83932	HP:0000325	Triangular face
OMIM:616200	SPRTN	83932	HP:0003202	Skeletal muscle atrophy
OMIM:616200	SPRTN	83932	HP:0001763	Pes planus
OMIM:616200	SPRTN	83932	HP:0002987	Elbow flexion contracture
OMIM:616200	SPRTN	83932	HP:0009125	Lipodystrophy
OMIM:616200	SPRTN	83932	HP:0004325	Decreased body weight
OMIM:616200	SPRTN	83932	HP:0007787	Posterior subcapsular cataract
OMIM:616200	SPRTN	83932	HP:0000426	Prominent nasal bridge
OMIM:616200	SPRTN	83932	HP:0000767	Pectus excavatum
OMIM:616200	SPRTN	83932	HP:0200021	Down-sloping shoulders
OMIM:616200	SPRTN	83932	HP:0002007	Frontal bossing
OMIM:616200	SPRTN	83932	HP:0002750	Delayed skeletal maturation
OMIM:616200	SPRTN	83932	HP:0000414	Bulbous nose
OMIM:616200	SPRTN	83932	HP:0004322	Short stature
OMIM:612714	COX4I2	84701	HP:0000938	Osteopenia
OMIM:612714	COX4I2	84701	HP:0003593	Infantile onset
OMIM:612714	COX4I2	84701	HP:0000670	Carious teeth
OMIM:612714	COX4I2	84701	HP:0000007	Autosomal recessive inheritance
OMIM:612714	COX4I2	84701	HP:0002099	Asthma
OMIM:612714	COX4I2	84701	HP:0002240	Hepatomegaly
OMIM:612714	COX4I2	84701	HP:0001263	Global developmental delay
OMIM:612714	COX4I2	84701	HP:0001508	Failure to thrive
OMIM:612714	COX4I2	84701	HP:0002750	Delayed skeletal maturation
OMIM:612714	COX4I2	84701	HP:0004395	Malnutrition
OMIM:612714	COX4I2	84701	HP:0002570	Steatorrhea
OMIM:612714	COX4I2	84701	HP:0001744	Splenomegaly
OMIM:612714	COX4I2	84701	HP:0000988	Skin rash
OMIM:612714	COX4I2	84701	HP:0000952	Jaundice
OMIM:612714	COX4I2	84701	HP:0010972	Anemia of inadequate production
OMIM:258870	OAT	4942	HP:0000533	Chorioretinal atrophy
OMIM:258870	OAT	4942	HP:0003457	EMG abnormality
OMIM:258870	OAT	4942	HP:0000007	Autosomal recessive inheritance
OMIM:258870	OAT	4942	HP:0003701	Proximal muscle weakness
OMIM:258870	OAT	4942	HP:0007787	Posterior subcapsular cataract
OMIM:258870	OAT	4942	HP:0000545	Myopia
OMIM:258870	OAT	4942	HP:0000618	Blindness
OMIM:258870	OAT	4942	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:258870	OAT	4942	HP:0000662	Nyctalopia
OMIM:264350	SCNN1A	6337	HP:0002205	Recurrent respiratory infections
OMIM:264350	SCNN1A	6337	HP:0001944	Dehydration
OMIM:264350	SCNN1A	6337	HP:0008872	Feeding difficulties in infancy
OMIM:264350	SCNN1A	6337	HP:0002013	Vomiting
OMIM:264350	SCNN1A	6337	HP:0003593	Infantile onset
OMIM:264350	SCNN1A	6337	HP:0001942	Metabolic acidosis
OMIM:264350	SCNN1A	6337	HP:0002014	Diarrhea
OMIM:264350	SCNN1A	6337	HP:0002153	Hyperkalemia
OMIM:264350	SCNN1A	6337	HP:0001508	Failure to thrive
OMIM:264350	SCNN1A	6337	HP:0000007	Autosomal recessive inheritance
OMIM:264350	SCNN1A	6337	HP:0008242	Pseudohypoaldosteronism
OMIM:264350	SCNN1B	6338	HP:0002205	Recurrent respiratory infections
OMIM:264350	SCNN1B	6338	HP:0001944	Dehydration
OMIM:264350	SCNN1B	6338	HP:0008872	Feeding difficulties in infancy
OMIM:264350	SCNN1B	6338	HP:0002013	Vomiting
OMIM:264350	SCNN1B	6338	HP:0003593	Infantile onset
OMIM:264350	SCNN1B	6338	HP:0001942	Metabolic acidosis
OMIM:264350	SCNN1B	6338	HP:0002014	Diarrhea
OMIM:264350	SCNN1B	6338	HP:0002153	Hyperkalemia
OMIM:264350	SCNN1B	6338	HP:0001508	Failure to thrive
OMIM:264350	SCNN1B	6338	HP:0000007	Autosomal recessive inheritance
OMIM:264350	SCNN1B	6338	HP:0008242	Pseudohypoaldosteronism
OMIM:264350	SCNN1G	6340	HP:0002205	Recurrent respiratory infections
OMIM:264350	SCNN1G	6340	HP:0001944	Dehydration
OMIM:264350	SCNN1G	6340	HP:0008872	Feeding difficulties in infancy
OMIM:264350	SCNN1G	6340	HP:0002013	Vomiting
OMIM:264350	SCNN1G	6340	HP:0003593	Infantile onset
OMIM:264350	SCNN1G	6340	HP:0001942	Metabolic acidosis
OMIM:264350	SCNN1G	6340	HP:0002014	Diarrhea
OMIM:264350	SCNN1G	6340	HP:0002153	Hyperkalemia
OMIM:264350	SCNN1G	6340	HP:0001508	Failure to thrive
OMIM:264350	SCNN1G	6340	HP:0000007	Autosomal recessive inheritance
OMIM:264350	SCNN1G	6340	HP:0008242	Pseudohypoaldosteronism
OMIM:108500	CACNA1A	773	HP:0001332	Dystonia
OMIM:108500	CACNA1A	773	HP:0001324	Muscle weakness
OMIM:108500	CACNA1A	773	HP:0003401	Paresthesia
OMIM:108500	CACNA1A	773	HP:0003829	Incomplete penetrance
OMIM:108500	CACNA1A	773	HP:0001260	Dysarthria
OMIM:108500	CACNA1A	773	HP:0002076	Migraine
OMIM:108500	CACNA1A	773	HP:0000640	Gaze-evoked nystagmus
OMIM:108500	CACNA1A	773	HP:0002321	Vertigo
OMIM:108500	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:108500	CACNA1A	773	HP:0000360	Tinnitus
OMIM:108500	CACNA1A	773	HP:0001751	Vestibular dysfunction
OMIM:108500	CACNA1A	773	HP:0002131	Episodic ataxia
OMIM:169600	ATP2C1	27032	HP:0000163	Abnormality of the oral cavity
OMIM:169600	ATP2C1	27032	HP:0000006	Autosomal dominant inheritance
OMIM:169600	ATP2C1	27032	HP:0200042	Skin ulcer
OMIM:169600	ATP2C1	27032	HP:0000962	Hyperkeratosis
OMIM:609812	CEL	1056	HP:0002027	Abdominal pain
OMIM:609812	CEL	1056	HP:0000006	Autosomal dominant inheritance
OMIM:609812	BLK	640	HP:0002027	Abdominal pain
OMIM:609812	BLK	640	HP:0000006	Autosomal dominant inheritance
OMIM:609812	PDX1	3651	HP:0002027	Abdominal pain
OMIM:609812	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:609812	HNF4A	3172	HP:0002027	Abdominal pain
OMIM:609812	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:609812	APPL1	26060	HP:0002027	Abdominal pain
OMIM:609812	APPL1	26060	HP:0000006	Autosomal dominant inheritance
OMIM:609812	KLF11	8462	HP:0002027	Abdominal pain
OMIM:609812	KLF11	8462	HP:0000006	Autosomal dominant inheritance
OMIM:609812	INS	3630	HP:0002027	Abdominal pain
OMIM:609812	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:609812	HNF1A	6927	HP:0002027	Abdominal pain
OMIM:609812	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:609812	ABCC8	6833	HP:0002027	Abdominal pain
OMIM:609812	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:609812	GCK	2645	HP:0002027	Abdominal pain
OMIM:609812	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:609812	PAX4	5078	HP:0002027	Abdominal pain
OMIM:609812	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:609812	KCNJ11	3767	HP:0002027	Abdominal pain
OMIM:609812	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:609812	NEUROD1	4760	HP:0002027	Abdominal pain
OMIM:609812	NEUROD1	4760	HP:0000006	Autosomal dominant inheritance
OMIM:109270	SLC4A1	6521	HP:0000952	Jaundice
OMIM:109270	SLC4A1	6521	HP:0002904	Hyperbilirubinemia
OMIM:109270	SLC4A1	6521	HP:0001744	Splenomegaly
OMIM:109270	SLC4A1	6521	HP:0001923	Reticulocytosis
ORPHANET:2855	CLPP	8192	HP:0100543	Cognitive impairment
ORPHANET:2855	CLPP	8192	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:2855	CLPP	8192	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2855	CLPP	8192	HP:0000597	Ophthalmoparesis
ORPHANET:2855	CLPP	8192	HP:0000869	Secondary amenorrhea
ORPHANET:2855	CLPP	8192	HP:0002650	Scoliosis
ORPHANET:2855	CLPP	8192	HP:0000147	Polycystic ovaries
ORPHANET:2855	CLPP	8192	HP:0000508	Ptosis
ORPHANET:2855	CLPP	8192	HP:0002120	Cerebral cortical atrophy
ORPHANET:2855	CLPP	8192	HP:0000407	Sensorineural hearing impairment
ORPHANET:2855	CLPP	8192	HP:0004322	Short stature
ORPHANET:2855	CLPP	8192	HP:0009830	Peripheral neuropathy
ORPHANET:2855	CLPP	8192	HP:0000657	Oculomotor apraxia
ORPHANET:2855	CLPP	8192	HP:0000762	Decreased nerve conduction velocity
ORPHANET:2855	CLPP	8192	HP:0000639	Nystagmus
ORPHANET:2855	CLPP	8192	HP:0002311	Incoordination
ORPHANET:2855	CLPP	8192	HP:0000786	Primary amenorrhea
ORPHANET:2855	LARS2	23395	HP:0100543	Cognitive impairment
ORPHANET:2855	LARS2	23395	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:2855	LARS2	23395	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2855	LARS2	23395	HP:0000597	Ophthalmoparesis
ORPHANET:2855	LARS2	23395	HP:0000869	Secondary amenorrhea
ORPHANET:2855	LARS2	23395	HP:0002650	Scoliosis
ORPHANET:2855	LARS2	23395	HP:0000147	Polycystic ovaries
ORPHANET:2855	LARS2	23395	HP:0000508	Ptosis
ORPHANET:2855	LARS2	23395	HP:0002120	Cerebral cortical atrophy
ORPHANET:2855	LARS2	23395	HP:0000407	Sensorineural hearing impairment
ORPHANET:2855	LARS2	23395	HP:0004322	Short stature
ORPHANET:2855	LARS2	23395	HP:0009830	Peripheral neuropathy
ORPHANET:2855	LARS2	23395	HP:0000657	Oculomotor apraxia
ORPHANET:2855	LARS2	23395	HP:0000762	Decreased nerve conduction velocity
ORPHANET:2855	LARS2	23395	HP:0000639	Nystagmus
ORPHANET:2855	LARS2	23395	HP:0002311	Incoordination
ORPHANET:2855	LARS2	23395	HP:0000786	Primary amenorrhea
ORPHANET:2855	C10ORF2	56652	HP:0100543	Cognitive impairment
ORPHANET:2855	C10ORF2	56652	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:2855	C10ORF2	56652	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2855	C10ORF2	56652	HP:0000597	Ophthalmoparesis
ORPHANET:2855	C10ORF2	56652	HP:0000869	Secondary amenorrhea
ORPHANET:2855	C10ORF2	56652	HP:0002650	Scoliosis
ORPHANET:2855	C10ORF2	56652	HP:0000147	Polycystic ovaries
ORPHANET:2855	C10ORF2	56652	HP:0000508	Ptosis
ORPHANET:2855	C10ORF2	56652	HP:0002120	Cerebral cortical atrophy
ORPHANET:2855	C10ORF2	56652	HP:0000407	Sensorineural hearing impairment
ORPHANET:2855	C10ORF2	56652	HP:0004322	Short stature
ORPHANET:2855	C10ORF2	56652	HP:0009830	Peripheral neuropathy
ORPHANET:2855	C10ORF2	56652	HP:0000657	Oculomotor apraxia
ORPHANET:2855	C10ORF2	56652	HP:0000762	Decreased nerve conduction velocity
ORPHANET:2855	C10ORF2	56652	HP:0000639	Nystagmus
ORPHANET:2855	C10ORF2	56652	HP:0002311	Incoordination
ORPHANET:2855	C10ORF2	56652	HP:0000786	Primary amenorrhea
ORPHANET:2855	HARS2	23438	HP:0100543	Cognitive impairment
ORPHANET:2855	HARS2	23438	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:2855	HARS2	23438	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2855	HARS2	23438	HP:0000597	Ophthalmoparesis
ORPHANET:2855	HARS2	23438	HP:0000869	Secondary amenorrhea
ORPHANET:2855	HARS2	23438	HP:0002650	Scoliosis
ORPHANET:2855	HARS2	23438	HP:0000147	Polycystic ovaries
ORPHANET:2855	HARS2	23438	HP:0000508	Ptosis
ORPHANET:2855	HARS2	23438	HP:0002120	Cerebral cortical atrophy
ORPHANET:2855	HARS2	23438	HP:0000407	Sensorineural hearing impairment
ORPHANET:2855	HARS2	23438	HP:0004322	Short stature
ORPHANET:2855	HARS2	23438	HP:0009830	Peripheral neuropathy
ORPHANET:2855	HARS2	23438	HP:0000657	Oculomotor apraxia
ORPHANET:2855	HARS2	23438	HP:0000762	Decreased nerve conduction velocity
ORPHANET:2855	HARS2	23438	HP:0000639	Nystagmus
ORPHANET:2855	HARS2	23438	HP:0002311	Incoordination
ORPHANET:2855	HARS2	23438	HP:0000786	Primary amenorrhea
ORPHANET:2855	HSD17B4	3295	HP:0100543	Cognitive impairment
ORPHANET:2855	HSD17B4	3295	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:2855	HSD17B4	3295	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2855	HSD17B4	3295	HP:0000597	Ophthalmoparesis
ORPHANET:2855	HSD17B4	3295	HP:0000869	Secondary amenorrhea
ORPHANET:2855	HSD17B4	3295	HP:0002650	Scoliosis
ORPHANET:2855	HSD17B4	3295	HP:0000147	Polycystic ovaries
ORPHANET:2855	HSD17B4	3295	HP:0000508	Ptosis
ORPHANET:2855	HSD17B4	3295	HP:0002120	Cerebral cortical atrophy
ORPHANET:2855	HSD17B4	3295	HP:0000407	Sensorineural hearing impairment
ORPHANET:2855	HSD17B4	3295	HP:0004322	Short stature
ORPHANET:2855	HSD17B4	3295	HP:0009830	Peripheral neuropathy
ORPHANET:2855	HSD17B4	3295	HP:0000657	Oculomotor apraxia
ORPHANET:2855	HSD17B4	3295	HP:0000762	Decreased nerve conduction velocity
ORPHANET:2855	HSD17B4	3295	HP:0000639	Nystagmus
ORPHANET:2855	HSD17B4	3295	HP:0002311	Incoordination
ORPHANET:2855	HSD17B4	3295	HP:0000786	Primary amenorrhea
OMIM:153100	VEGFC	7424	HP:0001028	Hemangioma
OMIM:153100	VEGFC	7424	HP:0003577	Congenital onset
OMIM:153100	VEGFC	7424	HP:0000006	Autosomal dominant inheritance
OMIM:153100	VEGFC	7424	HP:0001560	Abnormality of the amniotic fluid
OMIM:153100	VEGFC	7424	HP:0001597	Abnormality of the nail
OMIM:153100	FLT4	2324	HP:0001028	Hemangioma
OMIM:153100	FLT4	2324	HP:0003577	Congenital onset
OMIM:153100	FLT4	2324	HP:0000006	Autosomal dominant inheritance
OMIM:153100	FLT4	2324	HP:0001560	Abnormality of the amniotic fluid
OMIM:153100	FLT4	2324	HP:0001597	Abnormality of the nail
OMIM:153100	GJC2	57165	HP:0001028	Hemangioma
OMIM:153100	GJC2	57165	HP:0003577	Congenital onset
OMIM:153100	GJC2	57165	HP:0000006	Autosomal dominant inheritance
OMIM:153100	GJC2	57165	HP:0001560	Abnormality of the amniotic fluid
OMIM:153100	GJC2	57165	HP:0001597	Abnormality of the nail
OMIM:203750	ACAT1	38	HP:0001944	Dehydration
OMIM:203750	ACAT1	38	HP:0001249	Intellectual disability
OMIM:203750	ACAT1	38	HP:0000007	Autosomal recessive inheritance
OMIM:203750	ACAT1	38	HP:0002013	Vomiting
OMIM:610799	IRAK4	51135	HP:0000007	Autosomal recessive inheritance
OMIM:610799	IRAK4	51135	HP:0005366	Recurrent streptococcus pneumoniae infections
OMIM:613391	MSRB3	253827	HP:0003593	Infantile onset
OMIM:613391	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:613391	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:613391	MSRB3	253827	HP:0001270	Motor delay
OMIM:613391	MSRB3	253827	HP:0001751	Vestibular dysfunction
OMIM:613391	BSND	7809	HP:0003593	Infantile onset
OMIM:613391	BSND	7809	HP:0000365	Hearing impairment
OMIM:613391	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:613391	BSND	7809	HP:0001270	Motor delay
OMIM:613391	BSND	7809	HP:0001751	Vestibular dysfunction
OMIM:613391	ESPN	83715	HP:0003593	Infantile onset
OMIM:613391	ESPN	83715	HP:0000365	Hearing impairment
OMIM:613391	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:613391	ESPN	83715	HP:0001270	Motor delay
OMIM:613391	ESPN	83715	HP:0001751	Vestibular dysfunction
OMIM:613391	DFNB31	25861	HP:0003593	Infantile onset
OMIM:613391	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:613391	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:613391	DFNB31	25861	HP:0001270	Motor delay
OMIM:613391	DFNB31	25861	HP:0001751	Vestibular dysfunction
OMIM:613391	OTOA	146183	HP:0003593	Infantile onset
OMIM:613391	OTOA	146183	HP:0000365	Hearing impairment
OMIM:613391	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:613391	OTOA	146183	HP:0001270	Motor delay
OMIM:613391	OTOA	146183	HP:0001751	Vestibular dysfunction
OMIM:613391	GJA1	2697	HP:0003593	Infantile onset
OMIM:613391	GJA1	2697	HP:0000365	Hearing impairment
OMIM:613391	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:613391	GJA1	2697	HP:0001270	Motor delay
OMIM:613391	GJA1	2697	HP:0001751	Vestibular dysfunction
OMIM:613391	MET	4233	HP:0003593	Infantile onset
OMIM:613391	MET	4233	HP:0000365	Hearing impairment
OMIM:613391	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:613391	MET	4233	HP:0001270	Motor delay
OMIM:613391	MET	4233	HP:0001751	Vestibular dysfunction
OMIM:613391	CLDN14	23562	HP:0003593	Infantile onset
OMIM:613391	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:613391	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:613391	CLDN14	23562	HP:0001270	Motor delay
OMIM:613391	CLDN14	23562	HP:0001751	Vestibular dysfunction
OMIM:613391	HGF	3082	HP:0003593	Infantile onset
OMIM:613391	HGF	3082	HP:0000365	Hearing impairment
OMIM:613391	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:613391	HGF	3082	HP:0001270	Motor delay
OMIM:613391	HGF	3082	HP:0001751	Vestibular dysfunction
OMIM:613391	PNPT1	87178	HP:0003593	Infantile onset
OMIM:613391	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:613391	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:613391	PNPT1	87178	HP:0001270	Motor delay
OMIM:613391	PNPT1	87178	HP:0001751	Vestibular dysfunction
OMIM:613391	EPS8	2059	HP:0003593	Infantile onset
OMIM:613391	EPS8	2059	HP:0000365	Hearing impairment
OMIM:613391	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:613391	EPS8	2059	HP:0001270	Motor delay
OMIM:613391	EPS8	2059	HP:0001751	Vestibular dysfunction
OMIM:613391	MYO3A	53904	HP:0003593	Infantile onset
OMIM:613391	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:613391	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:613391	MYO3A	53904	HP:0001270	Motor delay
OMIM:613391	MYO3A	53904	HP:0001751	Vestibular dysfunction
OMIM:613391	DCDC2	51473	HP:0003593	Infantile onset
OMIM:613391	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:613391	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:613391	DCDC2	51473	HP:0001270	Motor delay
OMIM:613391	DCDC2	51473	HP:0001751	Vestibular dysfunction
OMIM:613391	GJB2	2706	HP:0003593	Infantile onset
OMIM:613391	GJB2	2706	HP:0000365	Hearing impairment
OMIM:613391	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:613391	GJB2	2706	HP:0001270	Motor delay
OMIM:613391	GJB2	2706	HP:0001751	Vestibular dysfunction
OMIM:613391	GJB3	2707	HP:0003593	Infantile onset
OMIM:613391	GJB3	2707	HP:0000365	Hearing impairment
OMIM:613391	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:613391	GJB3	2707	HP:0001270	Motor delay
OMIM:613391	GJB3	2707	HP:0001751	Vestibular dysfunction
OMIM:613391	CABP2	51475	HP:0003593	Infantile onset
OMIM:613391	CABP2	51475	HP:0000365	Hearing impairment
OMIM:613391	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:613391	CABP2	51475	HP:0001270	Motor delay
OMIM:613391	CABP2	51475	HP:0001751	Vestibular dysfunction
OMIM:613391	GRXCR2	643226	HP:0003593	Infantile onset
OMIM:613391	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:613391	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:613391	GRXCR2	643226	HP:0001270	Motor delay
OMIM:613391	GRXCR2	643226	HP:0001751	Vestibular dysfunction
OMIM:613391	SERPINB6	5269	HP:0003593	Infantile onset
OMIM:613391	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:613391	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:613391	SERPINB6	5269	HP:0001270	Motor delay
OMIM:613391	SERPINB6	5269	HP:0001751	Vestibular dysfunction
OMIM:613391	COL11A2	1302	HP:0003593	Infantile onset
OMIM:613391	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:613391	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:613391	COL11A2	1302	HP:0001270	Motor delay
OMIM:613391	COL11A2	1302	HP:0001751	Vestibular dysfunction
OMIM:613391	CIB2	10518	HP:0003593	Infantile onset
OMIM:613391	CIB2	10518	HP:0000365	Hearing impairment
OMIM:613391	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613391	CIB2	10518	HP:0001270	Motor delay
OMIM:613391	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:613391	FAM65B	9750	HP:0003593	Infantile onset
OMIM:613391	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:613391	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:613391	FAM65B	9750	HP:0001270	Motor delay
OMIM:613391	FAM65B	9750	HP:0001751	Vestibular dysfunction
OMIM:613391	KARS	3735	HP:0003593	Infantile onset
OMIM:613391	KARS	3735	HP:0000365	Hearing impairment
OMIM:613391	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:613391	KARS	3735	HP:0001270	Motor delay
OMIM:613391	KARS	3735	HP:0001751	Vestibular dysfunction
OMIM:613391	LOXHD1	125336	HP:0003593	Infantile onset
OMIM:613391	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:613391	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:613391	LOXHD1	125336	HP:0001270	Motor delay
OMIM:613391	LOXHD1	125336	HP:0001751	Vestibular dysfunction
OMIM:613391	TMC1	117531	HP:0003593	Infantile onset
OMIM:613391	TMC1	117531	HP:0000365	Hearing impairment
OMIM:613391	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:613391	TMC1	117531	HP:0001270	Motor delay
OMIM:613391	TMC1	117531	HP:0001751	Vestibular dysfunction
OMIM:613391	CLIC5	53405	HP:0003593	Infantile onset
OMIM:613391	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:613391	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:613391	CLIC5	53405	HP:0001270	Motor delay
OMIM:613391	CLIC5	53405	HP:0001751	Vestibular dysfunction
OMIM:613391	OTOF	9381	HP:0003593	Infantile onset
OMIM:613391	OTOF	9381	HP:0000365	Hearing impairment
OMIM:613391	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:613391	OTOF	9381	HP:0001270	Motor delay
OMIM:613391	OTOF	9381	HP:0001751	Vestibular dysfunction
OMIM:613391	MYO6	4646	HP:0003593	Infantile onset
OMIM:613391	MYO6	4646	HP:0000365	Hearing impairment
OMIM:613391	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:613391	MYO6	4646	HP:0001270	Motor delay
OMIM:613391	MYO6	4646	HP:0001751	Vestibular dysfunction
OMIM:613391	TMIE	259236	HP:0003593	Infantile onset
OMIM:613391	TMIE	259236	HP:0000365	Hearing impairment
OMIM:613391	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:613391	TMIE	259236	HP:0001270	Motor delay
OMIM:613391	TMIE	259236	HP:0001751	Vestibular dysfunction
OMIM:613391	MYO7A	4647	HP:0003593	Infantile onset
OMIM:613391	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:613391	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:613391	MYO7A	4647	HP:0001270	Motor delay
OMIM:613391	MYO7A	4647	HP:0001751	Vestibular dysfunction
OMIM:613391	LRTOMT	220074	HP:0003593	Infantile onset
OMIM:613391	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:613391	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:613391	LRTOMT	220074	HP:0001270	Motor delay
OMIM:613391	LRTOMT	220074	HP:0001751	Vestibular dysfunction
OMIM:613391	OTOGL	283310	HP:0003593	Infantile onset
OMIM:613391	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:613391	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:613391	OTOGL	283310	HP:0001270	Motor delay
OMIM:613391	OTOGL	283310	HP:0001751	Vestibular dysfunction
OMIM:613391	TPRN	286262	HP:0003593	Infantile onset
OMIM:613391	TPRN	286262	HP:0000365	Hearing impairment
OMIM:613391	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:613391	TPRN	286262	HP:0001270	Motor delay
OMIM:613391	TPRN	286262	HP:0001751	Vestibular dysfunction
OMIM:613391	SLC26A4	5172	HP:0003593	Infantile onset
OMIM:613391	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:613391	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:613391	SLC26A4	5172	HP:0001270	Motor delay
OMIM:613391	SLC26A4	5172	HP:0001751	Vestibular dysfunction
OMIM:613391	GJB6	10804	HP:0003593	Infantile onset
OMIM:613391	GJB6	10804	HP:0000365	Hearing impairment
OMIM:613391	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:613391	GJB6	10804	HP:0001270	Motor delay
OMIM:613391	GJB6	10804	HP:0001751	Vestibular dysfunction
OMIM:613391	DFNB59	494513	HP:0003593	Infantile onset
OMIM:613391	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:613391	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:613391	DFNB59	494513	HP:0001270	Motor delay
OMIM:613391	DFNB59	494513	HP:0001751	Vestibular dysfunction
OMIM:613391	ESRRB	2103	HP:0003593	Infantile onset
OMIM:613391	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:613391	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:613391	ESRRB	2103	HP:0001270	Motor delay
OMIM:613391	ESRRB	2103	HP:0001751	Vestibular dysfunction
OMIM:613391	PTPRQ	374462	HP:0003593	Infantile onset
OMIM:613391	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:613391	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:613391	PTPRQ	374462	HP:0001270	Motor delay
OMIM:613391	PTPRQ	374462	HP:0001751	Vestibular dysfunction
OMIM:613391	TMPRSS3	64699	HP:0003593	Infantile onset
OMIM:613391	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:613391	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:613391	TMPRSS3	64699	HP:0001270	Motor delay
OMIM:613391	TMPRSS3	64699	HP:0001751	Vestibular dysfunction
OMIM:613391	SLC26A5	375611	HP:0003593	Infantile onset
OMIM:613391	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:613391	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613391	SLC26A5	375611	HP:0001270	Motor delay
OMIM:613391	SLC26A5	375611	HP:0001751	Vestibular dysfunction
OMIM:613391	PCDH15	65217	HP:0003593	Infantile onset
OMIM:613391	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:613391	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:613391	PCDH15	65217	HP:0001270	Motor delay
OMIM:613391	PCDH15	65217	HP:0001751	Vestibular dysfunction
OMIM:613391	TSPEAR	54084	HP:0003593	Infantile onset
OMIM:613391	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:613391	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:613391	TSPEAR	54084	HP:0001270	Motor delay
OMIM:613391	TSPEAR	54084	HP:0001751	Vestibular dysfunction
OMIM:613391	LHFPL5	222662	HP:0003593	Infantile onset
OMIM:613391	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:613391	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:613391	LHFPL5	222662	HP:0001270	Motor delay
OMIM:613391	LHFPL5	222662	HP:0001751	Vestibular dysfunction
OMIM:613391	TRIOBP	11078	HP:0003593	Infantile onset
OMIM:613391	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:613391	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:613391	TRIOBP	11078	HP:0001270	Motor delay
OMIM:613391	TRIOBP	11078	HP:0001751	Vestibular dysfunction
OMIM:613391	CDH23	64072	HP:0003593	Infantile onset
OMIM:613391	CDH23	64072	HP:0000365	Hearing impairment
OMIM:613391	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:613391	CDH23	64072	HP:0001270	Motor delay
OMIM:613391	CDH23	64072	HP:0001751	Vestibular dysfunction
OMIM:613391	RDX	5962	HP:0003593	Infantile onset
OMIM:613391	RDX	5962	HP:0000365	Hearing impairment
OMIM:613391	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:613391	RDX	5962	HP:0001270	Motor delay
OMIM:613391	RDX	5962	HP:0001751	Vestibular dysfunction
OMIM:613391	GPSM2	29899	HP:0003593	Infantile onset
OMIM:613391	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:613391	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:613391	GPSM2	29899	HP:0001270	Motor delay
OMIM:613391	GPSM2	29899	HP:0001751	Vestibular dysfunction
OMIM:613391	ELMOD3	84173	HP:0003593	Infantile onset
OMIM:613391	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:613391	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:613391	ELMOD3	84173	HP:0001270	Motor delay
OMIM:613391	ELMOD3	84173	HP:0001751	Vestibular dysfunction
OMIM:613391	ILDR1	286676	HP:0003593	Infantile onset
OMIM:613391	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:613391	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:613391	ILDR1	286676	HP:0001270	Motor delay
OMIM:613391	ILDR1	286676	HP:0001751	Vestibular dysfunction
OMIM:613391	GRXCR1	389207	HP:0003593	Infantile onset
OMIM:613391	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:613391	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:613391	GRXCR1	389207	HP:0001270	Motor delay
OMIM:613391	GRXCR1	389207	HP:0001751	Vestibular dysfunction
OMIM:613391	MARVELD2	153562	HP:0003593	Infantile onset
OMIM:613391	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:613391	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:613391	MARVELD2	153562	HP:0001270	Motor delay
OMIM:613391	MARVELD2	153562	HP:0001751	Vestibular dysfunction
OMIM:613391	STRC	161497	HP:0003593	Infantile onset
OMIM:613391	STRC	161497	HP:0000365	Hearing impairment
OMIM:613391	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:613391	STRC	161497	HP:0001270	Motor delay
OMIM:613391	STRC	161497	HP:0001751	Vestibular dysfunction
OMIM:613391	SLITRK6	84189	HP:0003593	Infantile onset
OMIM:613391	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:613391	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:613391	SLITRK6	84189	HP:0001270	Motor delay
OMIM:613391	SLITRK6	84189	HP:0001751	Vestibular dysfunction
OMIM:613391	TECTA	7007	HP:0003593	Infantile onset
OMIM:613391	TECTA	7007	HP:0000365	Hearing impairment
OMIM:613391	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:613391	TECTA	7007	HP:0001270	Motor delay
OMIM:613391	TECTA	7007	HP:0001751	Vestibular dysfunction
OMIM:613391	MYO15A	51168	HP:0003593	Infantile onset
OMIM:613391	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:613391	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:613391	MYO15A	51168	HP:0001270	Motor delay
OMIM:613391	MYO15A	51168	HP:0001751	Vestibular dysfunction
OMIM:613391	USH1C	10083	HP:0003593	Infantile onset
OMIM:613391	USH1C	10083	HP:0000365	Hearing impairment
OMIM:613391	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:613391	USH1C	10083	HP:0001270	Motor delay
OMIM:613391	USH1C	10083	HP:0001751	Vestibular dysfunction
OMIM:613391	ADCY1	107	HP:0003593	Infantile onset
OMIM:613391	ADCY1	107	HP:0000365	Hearing impairment
OMIM:613391	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:613391	ADCY1	107	HP:0001270	Motor delay
OMIM:613391	ADCY1	107	HP:0001751	Vestibular dysfunction
OMIM:613391	SYNE4	163183	HP:0003593	Infantile onset
OMIM:613391	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:613391	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:613391	SYNE4	163183	HP:0001270	Motor delay
OMIM:613391	SYNE4	163183	HP:0001751	Vestibular dysfunction
OMIM:613391	GIPC3	126326	HP:0003593	Infantile onset
OMIM:613391	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:613391	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:613391	GIPC3	126326	HP:0001270	Motor delay
OMIM:613391	GIPC3	126326	HP:0001751	Vestibular dysfunction
OMIM:613391	TBC1D24	57465	HP:0003593	Infantile onset
OMIM:613391	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:613391	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:613391	TBC1D24	57465	HP:0001270	Motor delay
OMIM:613391	TBC1D24	57465	HP:0001751	Vestibular dysfunction
OMIM:613391	OTOG	340990	HP:0003593	Infantile onset
OMIM:613391	OTOG	340990	HP:0000365	Hearing impairment
OMIM:613391	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:613391	OTOG	340990	HP:0001270	Motor delay
OMIM:613391	OTOG	340990	HP:0001751	Vestibular dysfunction
OMIM:614067	AP4S1	11154	HP:0000252	Microcephaly
OMIM:614067	AP4S1	11154	HP:0003577	Congenital onset
OMIM:614067	AP4S1	11154	HP:0001258	Spastic paraplegia
OMIM:614067	AP4S1	11154	HP:0000007	Autosomal recessive inheritance
OMIM:614067	AP4S1	11154	HP:0000448	Prominent nose
OMIM:614067	AP4S1	11154	HP:0001347	Hyperreflexia
OMIM:614067	AP4S1	11154	HP:0003487	Babinski sign
OMIM:614067	AP4S1	11154	HP:0000414	Bulbous nose
OMIM:614067	AP4S1	11154	HP:0010864	Intellectual disability, severe
OMIM:614067	AP4S1	11154	HP:0001263	Global developmental delay
OMIM:614067	AP4S1	11154	HP:0004322	Short stature
OMIM:614067	AP4S1	11154	HP:0006957	Loss of ability to walk
OMIM:614067	AP4S1	11154	HP:0000154	Wide mouth
OMIM:614067	AP4S1	11154	HP:0001371	Flexion contracture
OMIM:614067	AP4S1	11154	HP:0001762	Talipes equinovarus
OMIM:614067	AP4S1	11154	HP:0000280	Coarse facial features
OMIM:614067	AP4E1	23431	HP:0000252	Microcephaly
OMIM:614067	AP4E1	23431	HP:0003577	Congenital onset
OMIM:614067	AP4E1	23431	HP:0001258	Spastic paraplegia
OMIM:614067	AP4E1	23431	HP:0000007	Autosomal recessive inheritance
OMIM:614067	AP4E1	23431	HP:0000448	Prominent nose
OMIM:614067	AP4E1	23431	HP:0001347	Hyperreflexia
OMIM:614067	AP4E1	23431	HP:0003487	Babinski sign
OMIM:614067	AP4E1	23431	HP:0000414	Bulbous nose
OMIM:614067	AP4E1	23431	HP:0010864	Intellectual disability, severe
OMIM:614067	AP4E1	23431	HP:0001263	Global developmental delay
OMIM:614067	AP4E1	23431	HP:0004322	Short stature
OMIM:614067	AP4E1	23431	HP:0006957	Loss of ability to walk
OMIM:614067	AP4E1	23431	HP:0000154	Wide mouth
OMIM:614067	AP4E1	23431	HP:0001371	Flexion contracture
OMIM:614067	AP4E1	23431	HP:0001762	Talipes equinovarus
OMIM:614067	AP4E1	23431	HP:0000280	Coarse facial features
OMIM:614067	AP4M1	9179	HP:0000252	Microcephaly
OMIM:614067	AP4M1	9179	HP:0003577	Congenital onset
OMIM:614067	AP4M1	9179	HP:0001258	Spastic paraplegia
OMIM:614067	AP4M1	9179	HP:0000007	Autosomal recessive inheritance
OMIM:614067	AP4M1	9179	HP:0000448	Prominent nose
OMIM:614067	AP4M1	9179	HP:0001347	Hyperreflexia
OMIM:614067	AP4M1	9179	HP:0003487	Babinski sign
OMIM:614067	AP4M1	9179	HP:0000414	Bulbous nose
OMIM:614067	AP4M1	9179	HP:0010864	Intellectual disability, severe
OMIM:614067	AP4M1	9179	HP:0001263	Global developmental delay
OMIM:614067	AP4M1	9179	HP:0004322	Short stature
OMIM:614067	AP4M1	9179	HP:0006957	Loss of ability to walk
OMIM:614067	AP4M1	9179	HP:0000154	Wide mouth
OMIM:614067	AP4M1	9179	HP:0001371	Flexion contracture
OMIM:614067	AP4M1	9179	HP:0001762	Talipes equinovarus
OMIM:614067	AP4M1	9179	HP:0000280	Coarse facial features
OMIM:614067	AP4B1	10717	HP:0000252	Microcephaly
OMIM:614067	AP4B1	10717	HP:0003577	Congenital onset
OMIM:614067	AP4B1	10717	HP:0001258	Spastic paraplegia
OMIM:614067	AP4B1	10717	HP:0000007	Autosomal recessive inheritance
OMIM:614067	AP4B1	10717	HP:0000448	Prominent nose
OMIM:614067	AP4B1	10717	HP:0001347	Hyperreflexia
OMIM:614067	AP4B1	10717	HP:0003487	Babinski sign
OMIM:614067	AP4B1	10717	HP:0000414	Bulbous nose
OMIM:614067	AP4B1	10717	HP:0010864	Intellectual disability, severe
OMIM:614067	AP4B1	10717	HP:0001263	Global developmental delay
OMIM:614067	AP4B1	10717	HP:0004322	Short stature
OMIM:614067	AP4B1	10717	HP:0006957	Loss of ability to walk
OMIM:614067	AP4B1	10717	HP:0000154	Wide mouth
OMIM:614067	AP4B1	10717	HP:0001371	Flexion contracture
OMIM:614067	AP4B1	10717	HP:0001762	Talipes equinovarus
OMIM:614067	AP4B1	10717	HP:0000280	Coarse facial features
OMIM:614201	GP6	51206	HP:0000978	Bruising susceptibility
OMIM:614201	GP6	51206	HP:0003593	Infantile onset
OMIM:614201	GP6	51206	HP:0000007	Autosomal recessive inheritance
OMIM:614201	GP6	51206	HP:0000421	Epistaxis
OMIM:614201	GP6	51206	HP:0003010	Prolonged bleeding time
OMIM:614201	GP6	51206	HP:0003828	Variable expressivity
OMIM:300067	PAFAH1B1	5048	HP:0001260	Dysarthria
OMIM:300067	PAFAH1B1	5048	HP:0001250	Seizures
OMIM:300067	PAFAH1B1	5048	HP:0001249	Intellectual disability
OMIM:300067	PAFAH1B1	5048	HP:0001251	Ataxia
OMIM:300067	PAFAH1B1	5048	HP:0001417	X-linked inheritance
OMIM:300067	PAFAH1B1	5048	HP:0100543	Cognitive impairment
OMIM:300067	PAFAH1B1	5048	HP:0000054	Micropenis
OMIM:300067	PAFAH1B1	5048	HP:0001522	Death in infancy
OMIM:300067	PAFAH1B1	5048	HP:0001270	Motor delay
OMIM:300067	PAFAH1B1	5048	HP:0001252	Muscular hypotonia
OMIM:300067	PAFAH1B1	5048	HP:0001274	Agenesis of corpus callosum
OMIM:300067	PAFAH1B1	5048	HP:0001302	Pachygyria
OMIM:300067	PAFAH1B1	5048	HP:0000639	Nystagmus
OMIM:300067	PAFAH1B1	5048	HP:0001276	Hypertonia
OMIM:300067	PAFAH1B1	5048	HP:0003829	Incomplete penetrance
OMIM:300067	PAFAH1B1	5048	HP:0001339	Lissencephaly
OMIM:300067	PAFAH1B1	5048	HP:0003593	Infantile onset
OMIM:300067	PAFAH1B1	5048	HP:0008897	Postnatal growth retardation
OMIM:300067	PAFAH1B1	5048	HP:0008936	Muscular hypotonia of the trunk
OMIM:300067	DCX	1641	HP:0001260	Dysarthria
OMIM:300067	DCX	1641	HP:0001250	Seizures
OMIM:300067	DCX	1641	HP:0001249	Intellectual disability
OMIM:300067	DCX	1641	HP:0001251	Ataxia
OMIM:300067	DCX	1641	HP:0001417	X-linked inheritance
OMIM:300067	DCX	1641	HP:0100543	Cognitive impairment
OMIM:300067	DCX	1641	HP:0000054	Micropenis
OMIM:300067	DCX	1641	HP:0001522	Death in infancy
OMIM:300067	DCX	1641	HP:0001270	Motor delay
OMIM:300067	DCX	1641	HP:0001252	Muscular hypotonia
OMIM:300067	DCX	1641	HP:0001274	Agenesis of corpus callosum
OMIM:300067	DCX	1641	HP:0001302	Pachygyria
OMIM:300067	DCX	1641	HP:0000639	Nystagmus
OMIM:300067	DCX	1641	HP:0001276	Hypertonia
OMIM:300067	DCX	1641	HP:0003829	Incomplete penetrance
OMIM:300067	DCX	1641	HP:0001339	Lissencephaly
OMIM:300067	DCX	1641	HP:0003593	Infantile onset
OMIM:300067	DCX	1641	HP:0008897	Postnatal growth retardation
OMIM:300067	DCX	1641	HP:0008936	Muscular hypotonia of the trunk
OMIM:300067	EML1	2009	HP:0001260	Dysarthria
OMIM:300067	EML1	2009	HP:0001250	Seizures
OMIM:300067	EML1	2009	HP:0001249	Intellectual disability
OMIM:300067	EML1	2009	HP:0001251	Ataxia
OMIM:300067	EML1	2009	HP:0001417	X-linked inheritance
OMIM:300067	EML1	2009	HP:0100543	Cognitive impairment
OMIM:300067	EML1	2009	HP:0000054	Micropenis
OMIM:300067	EML1	2009	HP:0001522	Death in infancy
OMIM:300067	EML1	2009	HP:0001270	Motor delay
OMIM:300067	EML1	2009	HP:0001252	Muscular hypotonia
OMIM:300067	EML1	2009	HP:0001274	Agenesis of corpus callosum
OMIM:300067	EML1	2009	HP:0001302	Pachygyria
OMIM:300067	EML1	2009	HP:0000639	Nystagmus
OMIM:300067	EML1	2009	HP:0001276	Hypertonia
OMIM:300067	EML1	2009	HP:0003829	Incomplete penetrance
OMIM:300067	EML1	2009	HP:0001339	Lissencephaly
OMIM:300067	EML1	2009	HP:0003593	Infantile onset
OMIM:300067	EML1	2009	HP:0008897	Postnatal growth retardation
OMIM:300067	EML1	2009	HP:0008936	Muscular hypotonia of the trunk
OMIM:264080	PGR	5241	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:264080	PGR	5241	HP:0000007	Autosomal recessive inheritance
OMIM:107690	APOA4	337	HP:0000006	Autosomal dominant inheritance
OMIM:610100	DCAF8	50717	HP:0003444	EMG: chronic denervation signs
OMIM:610100	DCAF8	50717	HP:0003376	Steppage gait
OMIM:610100	DCAF8	50717	HP:0001265	Hyporeflexia
OMIM:610100	DCAF8	50717	HP:0003431	Decreased motor nerve conduction velocity
OMIM:610100	DCAF8	50717	HP:0001765	Hammertoe
OMIM:610100	DCAF8	50717	HP:0003477	Peripheral axonal neuropathy
OMIM:610100	DCAF8	50717	HP:0003693	Distal amyotrophy
OMIM:610100	DCAF8	50717	HP:0001284	Areflexia
OMIM:610100	DCAF8	50717	HP:0000006	Autosomal dominant inheritance
OMIM:610100	DCAF8	50717	HP:0003383	Onion bulb formation
OMIM:610100	DCAF8	50717	HP:0001638	Cardiomyopathy
OMIM:610100	DCAF8	50717	HP:0001761	Pes cavus
OMIM:610100	DCAF8	50717	HP:0002460	Distal muscle weakness
OMIM:191900	NLRP3	114548	HP:0004322	Short stature
OMIM:191900	NLRP3	114548	HP:0003326	Myalgia
OMIM:191900	NLRP3	114548	HP:0000078	Abnormality of the genital system
OMIM:191900	NLRP3	114548	HP:0001903	Anemia
OMIM:191900	NLRP3	114548	HP:0001608	Abnormality of the voice
OMIM:191900	NLRP3	114548	HP:0000366	Abnormality of the nose
OMIM:191900	NLRP3	114548	HP:0001744	Splenomegaly
OMIM:191900	NLRP3	114548	HP:0008064	Ichthyosis
OMIM:191900	NLRP3	114548	HP:0000365	Hearing impairment
OMIM:191900	NLRP3	114548	HP:0003593	Infantile onset
OMIM:191900	NLRP3	114548	HP:0004299	Hernia of the abdominal wall
OMIM:191900	NLRP3	114548	HP:0004370	Abnormality of temperature regulation
OMIM:191900	NLRP3	114548	HP:0002027	Abdominal pain
OMIM:191900	NLRP3	114548	HP:0000501	Glaucoma
OMIM:191900	NLRP3	114548	HP:0002829	Arthralgia
OMIM:191900	NLRP3	114548	HP:0000648	Optic atrophy
OMIM:191900	NLRP3	114548	HP:0002240	Hepatomegaly
OMIM:191900	NLRP3	114548	HP:0006824	Cranial nerve paralysis
OMIM:191900	NLRP3	114548	HP:0001974	Leukocytosis
OMIM:191900	NLRP3	114548	HP:0000100	Nephrotic syndrome
OMIM:191900	NLRP3	114548	HP:0000256	Macrocephaly
OMIM:191900	NLRP3	114548	HP:0001369	Arthritis
OMIM:191900	NLRP3	114548	HP:0003202	Skeletal muscle atrophy
OMIM:191900	NLRP3	114548	HP:0001761	Pes cavus
OMIM:191900	NLRP3	114548	HP:0000083	Renal insufficiency
OMIM:191900	NLRP3	114548	HP:0000006	Autosomal dominant inheritance
OMIM:191900	NLRP3	114548	HP:0000408	Progressive sensorineural hearing impairment
OMIM:191900	NLRP3	114548	HP:0001025	Urticaria
OMIM:191900	NLRP3	114548	HP:0002633	Vasculitis
OMIM:191900	NLRP3	114548	HP:0100490	Camptodactyly of finger
OMIM:191900	NLRP3	114548	HP:0000509	Conjunctivitis
OMIM:191900	NLRP3	114548	HP:0000112	Nephropathy
OMIM:191900	NLRP3	114548	HP:0011107	Recurrent aphthous stomatitis
OMIM:191900	NLRP3	114548	HP:0000174	Abnormality of the palate
OMIM:191900	NLRP3	114548	HP:0001271	Polyneuropathy
OMIM:191900	NLRP3	114548	HP:0002091	Restrictive lung disease
OMIM:191900	NLRP3	114548	HP:0000951	Abnormality of the skin
OMIM:612924	CFB	629	HP:0000006	Autosomal dominant inheritance
OMIM:612924	CFB	629	HP:0001873	Thrombocytopenia
OMIM:612924	CFB	629	HP:0001919	Acute kidney injury
OMIM:612924	CFB	629	HP:0001937	Microangiopathic hemolytic anemia
OMIM:612924	CFB	629	HP:0005575	Hemolytic-uremic syndrome
OMIM:612924	CFB	629	HP:0000093	Proteinuria
OMIM:612924	CFB	629	HP:0003138	Increased blood urea nitrogen (BUN)
OMIM:612924	CFB	629	HP:0100519	Anuria
OMIM:612924	CFB	629	HP:0000790	Hematuria
OMIM:612924	CFB	629	HP:0003259	Elevated serum creatinine
OMIM:612924	CFB	629	HP:0000822	Hypertension
OMIM:614961	CHMP1A	5119	HP:0001762	Talipes equinovarus
OMIM:614961	CHMP1A	5119	HP:0002072	Chorea
OMIM:614961	CHMP1A	5119	HP:0000565	Esotropia
OMIM:614961	CHMP1A	5119	HP:0000540	Hypermetropia
OMIM:614961	CHMP1A	5119	HP:0100704	Cortical visual impairment
OMIM:614961	CHMP1A	5119	HP:0001257	Spasticity
OMIM:614961	CHMP1A	5119	HP:0002465	Poor speech
OMIM:614961	CHMP1A	5119	HP:0000998	Hypertrichosis
OMIM:614961	CHMP1A	5119	HP:0008936	Muscular hypotonia of the trunk
OMIM:614961	CHMP1A	5119	HP:0001761	Pes cavus
OMIM:614961	CHMP1A	5119	HP:0001347	Hyperreflexia
OMIM:614961	CHMP1A	5119	HP:0000007	Autosomal recessive inheritance
OMIM:614961	CHMP1A	5119	HP:0005484	Postnatal microcephaly
OMIM:614961	CHMP1A	5119	HP:0000483	Astigmatism
OMIM:614961	CHMP1A	5119	HP:0001344	Absent speech
OMIM:614961	CHMP1A	5119	HP:0002804	Arthrogryposis multiplex congenita
OMIM:614961	CHMP1A	5119	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614961	CHMP1A	5119	HP:0000639	Nystagmus
OMIM:614961	CHMP1A	5119	HP:0003577	Congenital onset
OMIM:614961	CHMP1A	5119	HP:0001263	Global developmental delay
OMIM:614961	CHMP1A	5119	HP:0002015	Dysphagia
OMIM:614961	CHMP1A	5119	HP:0000545	Myopia
OMIM:614961	CHMP1A	5119	HP:0002020	Gastroesophageal reflux
OMIM:614961	CHMP1A	5119	HP:0001321	Cerebellar hypoplasia
OMIM:614961	CHMP1A	5119	HP:0004684	Talipes valgus
OMIM:614961	CHMP1A	5119	HP:0002365	Hypoplasia of the brainstem
OMIM:614961	CHMP1A	5119	HP:0001249	Intellectual disability
ORPHANET:2189	HYLS1	219844	HP:0001162	Postaxial hand polydactyly
ORPHANET:2189	HYLS1	219844	HP:0002323	Anencephaly
ORPHANET:2189	HYLS1	219844	HP:0000008	Abnormality of female internal genitalia
ORPHANET:2189	HYLS1	219844	HP:0000366	Abnormality of the nose
ORPHANET:2189	HYLS1	219844	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2189	HYLS1	219844	HP:0000028	Cryptorchidism
ORPHANET:2189	HYLS1	219844	HP:0000490	Deeply set eye
ORPHANET:2189	HYLS1	219844	HP:0001360	Holoprosencephaly
ORPHANET:2189	HYLS1	219844	HP:0001561	Polyhydramnios
ORPHANET:2189	HYLS1	219844	HP:0001601	Laryngomalacia
ORPHANET:2189	HYLS1	219844	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2189	HYLS1	219844	HP:0001622	Premature birth
ORPHANET:2189	HYLS1	219844	HP:0000238	Hydrocephalus
ORPHANET:2189	HYLS1	219844	HP:0002983	Micromelia
ORPHANET:2189	HYLS1	219844	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2189	HYLS1	219844	HP:0000175	Cleft palate
ORPHANET:2189	HYLS1	219844	HP:0002777	Tracheal stenosis
ORPHANET:2189	HYLS1	219844	HP:0000347	Micrognathia
ORPHANET:2189	HYLS1	219844	HP:0100335	Non-midline cleft lip
ORPHANET:2189	KIF7	374654	HP:0001162	Postaxial hand polydactyly
ORPHANET:2189	KIF7	374654	HP:0002323	Anencephaly
ORPHANET:2189	KIF7	374654	HP:0000008	Abnormality of female internal genitalia
ORPHANET:2189	KIF7	374654	HP:0000366	Abnormality of the nose
ORPHANET:2189	KIF7	374654	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2189	KIF7	374654	HP:0000028	Cryptorchidism
ORPHANET:2189	KIF7	374654	HP:0000490	Deeply set eye
ORPHANET:2189	KIF7	374654	HP:0001360	Holoprosencephaly
ORPHANET:2189	KIF7	374654	HP:0001561	Polyhydramnios
ORPHANET:2189	KIF7	374654	HP:0001601	Laryngomalacia
ORPHANET:2189	KIF7	374654	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2189	KIF7	374654	HP:0001622	Premature birth
ORPHANET:2189	KIF7	374654	HP:0000238	Hydrocephalus
ORPHANET:2189	KIF7	374654	HP:0002983	Micromelia
ORPHANET:2189	KIF7	374654	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2189	KIF7	374654	HP:0000175	Cleft palate
ORPHANET:2189	KIF7	374654	HP:0002777	Tracheal stenosis
ORPHANET:2189	KIF7	374654	HP:0000347	Micrognathia
ORPHANET:2189	KIF7	374654	HP:0100335	Non-midline cleft lip
OMIM:125310	NOTCH3	4854	HP:0002120	Cerebral cortical atrophy
OMIM:125310	NOTCH3	4854	HP:0000572	Visual loss
OMIM:125310	NOTCH3	4854	HP:0007024	Pseudobulbar paralysis
OMIM:125310	NOTCH3	4854	HP:0000505	Visual impairment
OMIM:125310	NOTCH3	4854	HP:0000020	Urinary incontinence
OMIM:125310	NOTCH3	4854	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:125310	NOTCH3	4854	HP:0000708	Behavioral abnormality
OMIM:125310	NOTCH3	4854	HP:0008046	Abnormality of the retinal vasculature
OMIM:125310	NOTCH3	4854	HP:0001288	Gait disturbance
OMIM:125310	NOTCH3	4854	HP:0006824	Cranial nerve paralysis
OMIM:125310	NOTCH3	4854	HP:0002637	Cerebral ischemia
OMIM:125310	NOTCH3	4854	HP:0005293	Venous insufficiency
OMIM:125310	NOTCH3	4854	HP:0000365	Hearing impairment
OMIM:125310	NOTCH3	4854	HP:0002353	EEG abnormality
OMIM:125310	NOTCH3	4854	HP:0003581	Adult onset
OMIM:125310	NOTCH3	4854	HP:0100576	Amaurosis fugax
OMIM:125310	NOTCH3	4854	HP:0000649	Abnormality of visual evoked potentials
OMIM:125310	NOTCH3	4854	HP:0000951	Abnormality of the skin
OMIM:125310	NOTCH3	4854	HP:0002076	Migraine
OMIM:125310	NOTCH3	4854	HP:0002170	Intracranial hemorrhage
OMIM:125310	NOTCH3	4854	HP:0000512	Abnormal electroretinogram
OMIM:125310	NOTCH3	4854	HP:0002352	Leukoencephalopathy
OMIM:125310	NOTCH3	4854	HP:0004370	Abnormality of temperature regulation
OMIM:125310	NOTCH3	4854	HP:0004374	Hemiplegia/hemiparesis
OMIM:125310	NOTCH3	4854	HP:0002167	Neurological speech impairment
OMIM:125310	NOTCH3	4854	HP:0002205	Recurrent respiratory infections
OMIM:125310	NOTCH3	4854	HP:0001297	Stroke
OMIM:125310	NOTCH3	4854	HP:0001933	Subcutaneous hemorrhage
OMIM:125310	NOTCH3	4854	HP:0009830	Peripheral neuropathy
OMIM:125310	NOTCH3	4854	HP:0000006	Autosomal dominant inheritance
OMIM:125310	NOTCH3	4854	HP:0001250	Seizures
OMIM:125310	NOTCH3	4854	HP:0001276	Hypertonia
OMIM:125310	NOTCH3	4854	HP:0000822	Hypertension
OMIM:125310	NOTCH3	4854	HP:0001943	Hypoglycemia
OMIM:125310	NOTCH3	4854	HP:0002354	Memory impairment
OMIM:125310	NOTCH3	4854	HP:0002376	Developmental regression
OMIM:125310	NOTCH3	4854	HP:0002621	Atherosclerosis
OMIM:125310	NOTCH3	4854	HP:0004372	Reduced consciousness/confusion
OMIM:300872	TMLHE	55217	HP:0001250	Seizures
OMIM:300872	TMLHE	55217	HP:0000717	Autism
OMIM:300872	TMLHE	55217	HP:0001249	Intellectual disability
OMIM:614074	HPS5	11234	HP:0000007	Autosomal recessive inheritance
OMIM:614074	HPS5	11234	HP:0001022	Albinism
OMIM:614074	HPS5	11234	HP:0000978	Bruising susceptibility
OMIM:614074	HPS5	11234	HP:0001873	Thrombocytopenia
OMIM:614074	HPS5	11234	HP:0001107	Ocular albinism
OMIM:614074	HPS3	84343	HP:0000007	Autosomal recessive inheritance
OMIM:614074	HPS3	84343	HP:0001022	Albinism
OMIM:614074	HPS3	84343	HP:0000978	Bruising susceptibility
OMIM:614074	HPS3	84343	HP:0001873	Thrombocytopenia
OMIM:614074	HPS3	84343	HP:0001107	Ocular albinism
OMIM:614074	HPS6	79803	HP:0000007	Autosomal recessive inheritance
OMIM:614074	HPS6	79803	HP:0001022	Albinism
OMIM:614074	HPS6	79803	HP:0000978	Bruising susceptibility
OMIM:614074	HPS6	79803	HP:0001873	Thrombocytopenia
OMIM:614074	HPS6	79803	HP:0001107	Ocular albinism
OMIM:613195	ADAMTS17	170691	HP:0001083	Ectopia lentis
OMIM:613195	ADAMTS17	170691	HP:0000501	Glaucoma
OMIM:613195	ADAMTS17	170691	HP:0000007	Autosomal recessive inheritance
OMIM:613195	ADAMTS17	170691	HP:0004322	Short stature
OMIM:613195	CERS3	204219	HP:0001083	Ectopia lentis
OMIM:613195	CERS3	204219	HP:0000501	Glaucoma
OMIM:613195	CERS3	204219	HP:0000007	Autosomal recessive inheritance
OMIM:613195	CERS3	204219	HP:0004322	Short stature
OMIM:615471	FBXL4	26235	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615471	FBXL4	26235	HP:0000252	Microcephaly
OMIM:615471	FBXL4	26235	HP:0000275	Narrow face
OMIM:615471	FBXL4	26235	HP:0000494	Downslanted palpebral fissures
OMIM:615471	FBXL4	26235	HP:0001251	Ataxia
OMIM:615471	FBXL4	26235	HP:0001332	Dystonia
OMIM:615471	FBXL4	26235	HP:0002719	Recurrent infections
OMIM:615471	FBXL4	26235	HP:0001773	Short foot
OMIM:615471	FBXL4	26235	HP:0002020	Gastroesophageal reflux
OMIM:615471	FBXL4	26235	HP:0001266	Choreoathetosis
OMIM:615471	FBXL4	26235	HP:0000639	Nystagmus
OMIM:615471	FBXL4	26235	HP:0001508	Failure to thrive
OMIM:615471	FBXL4	26235	HP:0001298	Encephalopathy
OMIM:615471	FBXL4	26235	HP:0000574	Thick eyebrow
OMIM:615471	FBXL4	26235	HP:0003202	Skeletal muscle atrophy
OMIM:615471	FBXL4	26235	HP:0002151	Increased serum lactate
OMIM:615471	FBXL4	26235	HP:0002650	Scoliosis
OMIM:615471	FBXL4	26235	HP:0000047	Hypospadias
OMIM:615471	FBXL4	26235	HP:0003128	Lactic acidosis
OMIM:615471	FBXL4	26235	HP:0011675	Arrhythmia
OMIM:615471	FBXL4	26235	HP:0012448	Delayed myelination
OMIM:615471	FBXL4	26235	HP:0003812	Phenotypic variability
OMIM:615471	FBXL4	26235	HP:0002415	Leukodystrophy
OMIM:615471	FBXL4	26235	HP:0001875	Neutropenia
OMIM:615471	FBXL4	26235	HP:0011120	Concave nasal ridge
OMIM:615471	FBXL4	26235	HP:0001510	Growth delay
OMIM:615471	FBXL4	26235	HP:0001357	Plagiocephaly
OMIM:615471	FBXL4	26235	HP:0001252	Muscular hypotonia
OMIM:615471	FBXL4	26235	HP:0002059	Cerebral atrophy
OMIM:615471	FBXL4	26235	HP:0000411	Protruding ear
OMIM:615471	FBXL4	26235	HP:0001263	Global developmental delay
OMIM:615471	FBXL4	26235	HP:0002015	Dysphagia
OMIM:615471	FBXL4	26235	HP:0001518	Small for gestational age
OMIM:615471	FBXL4	26235	HP:0001250	Seizures
OMIM:615471	FBXL4	26235	HP:0000232	Everted lower lip vermilion
OMIM:615471	FBXL4	26235	HP:0000286	Epicanthus
OMIM:615471	FBXL4	26235	HP:0000518	Cataract
OMIM:615471	FBXL4	26235	HP:0000007	Autosomal recessive inheritance
OMIM:615471	FBXL4	26235	HP:0001272	Cerebellar atrophy
OMIM:615471	FBXL4	26235	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615471	FBXL4	26235	HP:0002910	Elevated hepatic transaminases
OMIM:603516	ATXN10	25814	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:603516	ATXN10	25814	HP:0002066	Gait ataxia
OMIM:603516	ATXN10	25814	HP:0007256	Abnormal pyramidal signs
OMIM:603516	ATXN10	25814	HP:0001310	Dysmetria
OMIM:603516	ATXN10	25814	HP:0001272	Cerebellar atrophy
OMIM:603516	ATXN10	25814	HP:0000726	Dementia
OMIM:603516	ATXN10	25814	HP:0000006	Autosomal dominant inheritance
OMIM:603516	ATXN10	25814	HP:0002015	Dysphagia
OMIM:603516	ATXN10	25814	HP:0002311	Incoordination
OMIM:603516	ATXN10	25814	HP:0001260	Dysarthria
OMIM:603516	ATXN10	25814	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:603516	ATXN10	25814	HP:0000762	Decreased nerve conduction velocity
OMIM:603516	ATXN10	25814	HP:0000012	Urinary urgency
OMIM:603516	ATXN10	25814	HP:0000716	Depression
OMIM:603516	ATXN10	25814	HP:0002075	Dysdiadochokinesis
OMIM:603516	ATXN10	25814	HP:0003829	Incomplete penetrance
OMIM:603516	ATXN10	25814	HP:0001250	Seizures
OMIM:603516	ATXN10	25814	HP:0000020	Urinary incontinence
OMIM:603516	ATXN10	25814	HP:0002070	Limb ataxia
OMIM:603516	ATXN10	25814	HP:0000639	Nystagmus
OMIM:603516	ATXN10	25814	HP:0001347	Hyperreflexia
OMIM:300676	MED12	9968	HP:0000276	Long face
OMIM:300676	MED12	9968	HP:0011220	Prominent forehead
OMIM:300676	MED12	9968	HP:0001833	Long foot
OMIM:300676	MED12	9968	HP:0000768	Pectus carinatum
OMIM:300676	MED12	9968	HP:0001507	Growth abnormality
OMIM:300676	MED12	9968	HP:0000774	Narrow chest
OMIM:300676	MED12	9968	HP:0000327	Hypoplasia of the maxilla
OMIM:300676	MED12	9968	HP:0000303	Mandibular prognathia
OMIM:300676	MED12	9968	HP:0000218	High palate
OMIM:300676	MED12	9968	HP:0003011	Abnormality of the musculature
OMIM:300676	MED12	9968	HP:0001611	Nasal speech
OMIM:300676	MED12	9968	HP:0002650	Scoliosis
OMIM:300676	MED12	9968	HP:0002808	Kyphosis
OMIM:300676	MED12	9968	HP:0000275	Narrow face
OMIM:300676	MED12	9968	HP:0000426	Prominent nasal bridge
OMIM:300676	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:300676	MED12	9968	HP:0000767	Pectus excavatum
OMIM:300676	MED12	9968	HP:0001249	Intellectual disability
OMIM:300676	MED12	9968	HP:0000256	Macrocephaly
OMIM:300676	MED12	9968	HP:0001166	Arachnodactyly
OMIM:300676	MED12	9968	HP:0002007	Frontal bossing
OMIM:300676	UPF3B	65109	HP:0000276	Long face
OMIM:300676	UPF3B	65109	HP:0011220	Prominent forehead
OMIM:300676	UPF3B	65109	HP:0001833	Long foot
OMIM:300676	UPF3B	65109	HP:0000768	Pectus carinatum
OMIM:300676	UPF3B	65109	HP:0001507	Growth abnormality
OMIM:300676	UPF3B	65109	HP:0000774	Narrow chest
OMIM:300676	UPF3B	65109	HP:0000327	Hypoplasia of the maxilla
OMIM:300676	UPF3B	65109	HP:0000303	Mandibular prognathia
OMIM:300676	UPF3B	65109	HP:0000218	High palate
OMIM:300676	UPF3B	65109	HP:0003011	Abnormality of the musculature
OMIM:300676	UPF3B	65109	HP:0001611	Nasal speech
OMIM:300676	UPF3B	65109	HP:0002650	Scoliosis
OMIM:300676	UPF3B	65109	HP:0002808	Kyphosis
OMIM:300676	UPF3B	65109	HP:0000275	Narrow face
OMIM:300676	UPF3B	65109	HP:0000426	Prominent nasal bridge
OMIM:300676	UPF3B	65109	HP:0001419	X-linked recessive inheritance
OMIM:300676	UPF3B	65109	HP:0000767	Pectus excavatum
OMIM:300676	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:300676	UPF3B	65109	HP:0000256	Macrocephaly
OMIM:300676	UPF3B	65109	HP:0001166	Arachnodactyly
OMIM:300676	UPF3B	65109	HP:0002007	Frontal bossing
OMIM:300676	ZDHHC9	51114	HP:0000276	Long face
OMIM:300676	ZDHHC9	51114	HP:0011220	Prominent forehead
OMIM:300676	ZDHHC9	51114	HP:0001833	Long foot
OMIM:300676	ZDHHC9	51114	HP:0000768	Pectus carinatum
OMIM:300676	ZDHHC9	51114	HP:0001507	Growth abnormality
OMIM:300676	ZDHHC9	51114	HP:0000774	Narrow chest
OMIM:300676	ZDHHC9	51114	HP:0000327	Hypoplasia of the maxilla
OMIM:300676	ZDHHC9	51114	HP:0000303	Mandibular prognathia
OMIM:300676	ZDHHC9	51114	HP:0000218	High palate
OMIM:300676	ZDHHC9	51114	HP:0003011	Abnormality of the musculature
OMIM:300676	ZDHHC9	51114	HP:0001611	Nasal speech
OMIM:300676	ZDHHC9	51114	HP:0002650	Scoliosis
OMIM:300676	ZDHHC9	51114	HP:0002808	Kyphosis
OMIM:300676	ZDHHC9	51114	HP:0000275	Narrow face
OMIM:300676	ZDHHC9	51114	HP:0000426	Prominent nasal bridge
OMIM:300676	ZDHHC9	51114	HP:0001419	X-linked recessive inheritance
OMIM:300676	ZDHHC9	51114	HP:0000767	Pectus excavatum
OMIM:300676	ZDHHC9	51114	HP:0001249	Intellectual disability
OMIM:300676	ZDHHC9	51114	HP:0000256	Macrocephaly
OMIM:300676	ZDHHC9	51114	HP:0001166	Arachnodactyly
OMIM:300676	ZDHHC9	51114	HP:0002007	Frontal bossing
OMIM:613224	RIT1	6016	HP:0000316	Hypertelorism
OMIM:613224	RIT1	6016	HP:0002212	Curly hair
OMIM:613224	RIT1	6016	HP:0001256	Intellectual disability, mild
OMIM:613224	RIT1	6016	HP:0000750	Delayed speech and language development
OMIM:613224	RIT1	6016	HP:0001642	Pulmonic stenosis
OMIM:613224	RIT1	6016	HP:0004322	Short stature
OMIM:613224	RIT1	6016	HP:0000028	Cryptorchidism
OMIM:613224	RIT1	6016	HP:0000962	Hyperkeratosis
OMIM:613224	RIT1	6016	HP:0000256	Macrocephaly
OMIM:613224	RIT1	6016	HP:0000369	Low-set ears
OMIM:613224	RIT1	6016	HP:0000465	Webbed neck
OMIM:613224	RIT1	6016	HP:0001290	Generalized hypotonia
OMIM:613224	RIT1	6016	HP:0000545	Myopia
OMIM:613224	RIT1	6016	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	RIT1	6016	HP:0001555	Asymmetry of the thorax
OMIM:613224	BRAF	673	HP:0000316	Hypertelorism
OMIM:613224	BRAF	673	HP:0002212	Curly hair
OMIM:613224	BRAF	673	HP:0001256	Intellectual disability, mild
OMIM:613224	BRAF	673	HP:0000750	Delayed speech and language development
OMIM:613224	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:613224	BRAF	673	HP:0004322	Short stature
OMIM:613224	BRAF	673	HP:0000028	Cryptorchidism
OMIM:613224	BRAF	673	HP:0000962	Hyperkeratosis
OMIM:613224	BRAF	673	HP:0000256	Macrocephaly
OMIM:613224	BRAF	673	HP:0000369	Low-set ears
OMIM:613224	BRAF	673	HP:0000465	Webbed neck
OMIM:613224	BRAF	673	HP:0001290	Generalized hypotonia
OMIM:613224	BRAF	673	HP:0000545	Myopia
OMIM:613224	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	BRAF	673	HP:0001555	Asymmetry of the thorax
OMIM:613224	KAT6B	23522	HP:0000316	Hypertelorism
OMIM:613224	KAT6B	23522	HP:0002212	Curly hair
OMIM:613224	KAT6B	23522	HP:0001256	Intellectual disability, mild
OMIM:613224	KAT6B	23522	HP:0000750	Delayed speech and language development
OMIM:613224	KAT6B	23522	HP:0001642	Pulmonic stenosis
OMIM:613224	KAT6B	23522	HP:0004322	Short stature
OMIM:613224	KAT6B	23522	HP:0000028	Cryptorchidism
OMIM:613224	KAT6B	23522	HP:0000962	Hyperkeratosis
OMIM:613224	KAT6B	23522	HP:0000256	Macrocephaly
OMIM:613224	KAT6B	23522	HP:0000369	Low-set ears
OMIM:613224	KAT6B	23522	HP:0000465	Webbed neck
OMIM:613224	KAT6B	23522	HP:0001290	Generalized hypotonia
OMIM:613224	KAT6B	23522	HP:0000545	Myopia
OMIM:613224	KAT6B	23522	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	KAT6B	23522	HP:0001555	Asymmetry of the thorax
OMIM:613224	RASA2	5922	HP:0000316	Hypertelorism
OMIM:613224	RASA2	5922	HP:0002212	Curly hair
OMIM:613224	RASA2	5922	HP:0001256	Intellectual disability, mild
OMIM:613224	RASA2	5922	HP:0000750	Delayed speech and language development
OMIM:613224	RASA2	5922	HP:0001642	Pulmonic stenosis
OMIM:613224	RASA2	5922	HP:0004322	Short stature
OMIM:613224	RASA2	5922	HP:0000028	Cryptorchidism
OMIM:613224	RASA2	5922	HP:0000962	Hyperkeratosis
OMIM:613224	RASA2	5922	HP:0000256	Macrocephaly
OMIM:613224	RASA2	5922	HP:0000369	Low-set ears
OMIM:613224	RASA2	5922	HP:0000465	Webbed neck
OMIM:613224	RASA2	5922	HP:0001290	Generalized hypotonia
OMIM:613224	RASA2	5922	HP:0000545	Myopia
OMIM:613224	RASA2	5922	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	RASA2	5922	HP:0001555	Asymmetry of the thorax
OMIM:613224	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:613224	PTPN11	5781	HP:0002212	Curly hair
OMIM:613224	PTPN11	5781	HP:0001256	Intellectual disability, mild
OMIM:613224	PTPN11	5781	HP:0000750	Delayed speech and language development
OMIM:613224	PTPN11	5781	HP:0001642	Pulmonic stenosis
OMIM:613224	PTPN11	5781	HP:0004322	Short stature
OMIM:613224	PTPN11	5781	HP:0000028	Cryptorchidism
OMIM:613224	PTPN11	5781	HP:0000962	Hyperkeratosis
OMIM:613224	PTPN11	5781	HP:0000256	Macrocephaly
OMIM:613224	PTPN11	5781	HP:0000369	Low-set ears
OMIM:613224	PTPN11	5781	HP:0000465	Webbed neck
OMIM:613224	PTPN11	5781	HP:0001290	Generalized hypotonia
OMIM:613224	PTPN11	5781	HP:0000545	Myopia
OMIM:613224	PTPN11	5781	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	PTPN11	5781	HP:0001555	Asymmetry of the thorax
OMIM:613224	KRAS	3845	HP:0000316	Hypertelorism
OMIM:613224	KRAS	3845	HP:0002212	Curly hair
OMIM:613224	KRAS	3845	HP:0001256	Intellectual disability, mild
OMIM:613224	KRAS	3845	HP:0000750	Delayed speech and language development
OMIM:613224	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:613224	KRAS	3845	HP:0004322	Short stature
OMIM:613224	KRAS	3845	HP:0000028	Cryptorchidism
OMIM:613224	KRAS	3845	HP:0000962	Hyperkeratosis
OMIM:613224	KRAS	3845	HP:0000256	Macrocephaly
OMIM:613224	KRAS	3845	HP:0000369	Low-set ears
OMIM:613224	KRAS	3845	HP:0000465	Webbed neck
OMIM:613224	KRAS	3845	HP:0001290	Generalized hypotonia
OMIM:613224	KRAS	3845	HP:0000545	Myopia
OMIM:613224	KRAS	3845	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	KRAS	3845	HP:0001555	Asymmetry of the thorax
OMIM:613224	RAF1	5894	HP:0000316	Hypertelorism
OMIM:613224	RAF1	5894	HP:0002212	Curly hair
OMIM:613224	RAF1	5894	HP:0001256	Intellectual disability, mild
OMIM:613224	RAF1	5894	HP:0000750	Delayed speech and language development
OMIM:613224	RAF1	5894	HP:0001642	Pulmonic stenosis
OMIM:613224	RAF1	5894	HP:0004322	Short stature
OMIM:613224	RAF1	5894	HP:0000028	Cryptorchidism
OMIM:613224	RAF1	5894	HP:0000962	Hyperkeratosis
OMIM:613224	RAF1	5894	HP:0000256	Macrocephaly
OMIM:613224	RAF1	5894	HP:0000369	Low-set ears
OMIM:613224	RAF1	5894	HP:0000465	Webbed neck
OMIM:613224	RAF1	5894	HP:0001290	Generalized hypotonia
OMIM:613224	RAF1	5894	HP:0000545	Myopia
OMIM:613224	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	RAF1	5894	HP:0001555	Asymmetry of the thorax
OMIM:613224	LZTR1	8216	HP:0000316	Hypertelorism
OMIM:613224	LZTR1	8216	HP:0002212	Curly hair
OMIM:613224	LZTR1	8216	HP:0001256	Intellectual disability, mild
OMIM:613224	LZTR1	8216	HP:0000750	Delayed speech and language development
OMIM:613224	LZTR1	8216	HP:0001642	Pulmonic stenosis
OMIM:613224	LZTR1	8216	HP:0004322	Short stature
OMIM:613224	LZTR1	8216	HP:0000028	Cryptorchidism
OMIM:613224	LZTR1	8216	HP:0000962	Hyperkeratosis
OMIM:613224	LZTR1	8216	HP:0000256	Macrocephaly
OMIM:613224	LZTR1	8216	HP:0000369	Low-set ears
OMIM:613224	LZTR1	8216	HP:0000465	Webbed neck
OMIM:613224	LZTR1	8216	HP:0001290	Generalized hypotonia
OMIM:613224	LZTR1	8216	HP:0000545	Myopia
OMIM:613224	LZTR1	8216	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	LZTR1	8216	HP:0001555	Asymmetry of the thorax
OMIM:613224	A2ML1	144568	HP:0000316	Hypertelorism
OMIM:613224	A2ML1	144568	HP:0002212	Curly hair
OMIM:613224	A2ML1	144568	HP:0001256	Intellectual disability, mild
OMIM:613224	A2ML1	144568	HP:0000750	Delayed speech and language development
OMIM:613224	A2ML1	144568	HP:0001642	Pulmonic stenosis
OMIM:613224	A2ML1	144568	HP:0004322	Short stature
OMIM:613224	A2ML1	144568	HP:0000028	Cryptorchidism
OMIM:613224	A2ML1	144568	HP:0000962	Hyperkeratosis
OMIM:613224	A2ML1	144568	HP:0000256	Macrocephaly
OMIM:613224	A2ML1	144568	HP:0000369	Low-set ears
OMIM:613224	A2ML1	144568	HP:0000465	Webbed neck
OMIM:613224	A2ML1	144568	HP:0001290	Generalized hypotonia
OMIM:613224	A2ML1	144568	HP:0000545	Myopia
OMIM:613224	A2ML1	144568	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	A2ML1	144568	HP:0001555	Asymmetry of the thorax
OMIM:613224	NRAS	4893	HP:0000316	Hypertelorism
OMIM:613224	NRAS	4893	HP:0002212	Curly hair
OMIM:613224	NRAS	4893	HP:0001256	Intellectual disability, mild
OMIM:613224	NRAS	4893	HP:0000750	Delayed speech and language development
OMIM:613224	NRAS	4893	HP:0001642	Pulmonic stenosis
OMIM:613224	NRAS	4893	HP:0004322	Short stature
OMIM:613224	NRAS	4893	HP:0000028	Cryptorchidism
OMIM:613224	NRAS	4893	HP:0000962	Hyperkeratosis
OMIM:613224	NRAS	4893	HP:0000256	Macrocephaly
OMIM:613224	NRAS	4893	HP:0000369	Low-set ears
OMIM:613224	NRAS	4893	HP:0000465	Webbed neck
OMIM:613224	NRAS	4893	HP:0001290	Generalized hypotonia
OMIM:613224	NRAS	4893	HP:0000545	Myopia
OMIM:613224	NRAS	4893	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	NRAS	4893	HP:0001555	Asymmetry of the thorax
OMIM:613224	SOS1	6654	HP:0000316	Hypertelorism
OMIM:613224	SOS1	6654	HP:0002212	Curly hair
OMIM:613224	SOS1	6654	HP:0001256	Intellectual disability, mild
OMIM:613224	SOS1	6654	HP:0000750	Delayed speech and language development
OMIM:613224	SOS1	6654	HP:0001642	Pulmonic stenosis
OMIM:613224	SOS1	6654	HP:0004322	Short stature
OMIM:613224	SOS1	6654	HP:0000028	Cryptorchidism
OMIM:613224	SOS1	6654	HP:0000962	Hyperkeratosis
OMIM:613224	SOS1	6654	HP:0000256	Macrocephaly
OMIM:613224	SOS1	6654	HP:0000369	Low-set ears
OMIM:613224	SOS1	6654	HP:0000465	Webbed neck
OMIM:613224	SOS1	6654	HP:0001290	Generalized hypotonia
OMIM:613224	SOS1	6654	HP:0000545	Myopia
OMIM:613224	SOS1	6654	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	SOS1	6654	HP:0001555	Asymmetry of the thorax
OMIM:613224	SOS2	6655	HP:0000316	Hypertelorism
OMIM:613224	SOS2	6655	HP:0002212	Curly hair
OMIM:613224	SOS2	6655	HP:0001256	Intellectual disability, mild
OMIM:613224	SOS2	6655	HP:0000750	Delayed speech and language development
OMIM:613224	SOS2	6655	HP:0001642	Pulmonic stenosis
OMIM:613224	SOS2	6655	HP:0004322	Short stature
OMIM:613224	SOS2	6655	HP:0000028	Cryptorchidism
OMIM:613224	SOS2	6655	HP:0000962	Hyperkeratosis
OMIM:613224	SOS2	6655	HP:0000256	Macrocephaly
OMIM:613224	SOS2	6655	HP:0000369	Low-set ears
OMIM:613224	SOS2	6655	HP:0000465	Webbed neck
OMIM:613224	SOS2	6655	HP:0001290	Generalized hypotonia
OMIM:613224	SOS2	6655	HP:0000545	Myopia
OMIM:613224	SOS2	6655	HP:0001639	Hypertrophic cardiomyopathy
OMIM:613224	SOS2	6655	HP:0001555	Asymmetry of the thorax
OMIM:612555	BRCA1	672	HP:0001426	Multifactorial inheritance
OMIM:612555	BRCA1	672	HP:0003002	Breast carcinoma
OMIM:612555	BRCA1	672	HP:0000006	Autosomal dominant inheritance
OMIM:612555	PTEN	5728	HP:0001426	Multifactorial inheritance
OMIM:612555	PTEN	5728	HP:0003002	Breast carcinoma
OMIM:612555	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:612555	RAD51	5888	HP:0001426	Multifactorial inheritance
OMIM:612555	RAD51	5888	HP:0003002	Breast carcinoma
OMIM:612555	RAD51	5888	HP:0000006	Autosomal dominant inheritance
OMIM:612555	CHEK2	11200	HP:0001426	Multifactorial inheritance
OMIM:612555	CHEK2	11200	HP:0003002	Breast carcinoma
OMIM:612555	CHEK2	11200	HP:0000006	Autosomal dominant inheritance
OMIM:612555	RAD51C	5889	HP:0001426	Multifactorial inheritance
OMIM:612555	RAD51C	5889	HP:0003002	Breast carcinoma
OMIM:612555	RAD51C	5889	HP:0000006	Autosomal dominant inheritance
OMIM:612555	BRCA2	675	HP:0001426	Multifactorial inheritance
OMIM:612555	BRCA2	675	HP:0003002	Breast carcinoma
OMIM:612555	BRCA2	675	HP:0000006	Autosomal dominant inheritance
OMIM:612555	BARD1	580	HP:0001426	Multifactorial inheritance
OMIM:612555	BARD1	580	HP:0003002	Breast carcinoma
OMIM:612555	BARD1	580	HP:0000006	Autosomal dominant inheritance
OMIM:612555	RAD51D	5892	HP:0001426	Multifactorial inheritance
OMIM:612555	RAD51D	5892	HP:0003002	Breast carcinoma
OMIM:612555	RAD51D	5892	HP:0000006	Autosomal dominant inheritance
OMIM:612555	MRE11A	4361	HP:0001426	Multifactorial inheritance
OMIM:612555	MRE11A	4361	HP:0003002	Breast carcinoma
OMIM:612555	MRE11A	4361	HP:0000006	Autosomal dominant inheritance
OMIM:612555	SLC22A18	5002	HP:0001426	Multifactorial inheritance
OMIM:612555	SLC22A18	5002	HP:0003002	Breast carcinoma
OMIM:612555	SLC22A18	5002	HP:0000006	Autosomal dominant inheritance
OMIM:612555	NBN	4683	HP:0001426	Multifactorial inheritance
OMIM:612555	NBN	4683	HP:0003002	Breast carcinoma
OMIM:612555	NBN	4683	HP:0000006	Autosomal dominant inheritance
OMIM:612555	PPM1D	8493	HP:0001426	Multifactorial inheritance
OMIM:612555	PPM1D	8493	HP:0003002	Breast carcinoma
OMIM:612555	PPM1D	8493	HP:0000006	Autosomal dominant inheritance
OMIM:612555	PALB2	79728	HP:0001426	Multifactorial inheritance
OMIM:612555	PALB2	79728	HP:0003002	Breast carcinoma
OMIM:612555	PALB2	79728	HP:0000006	Autosomal dominant inheritance
OMIM:612555	KLLN	100144748	HP:0001426	Multifactorial inheritance
OMIM:612555	KLLN	100144748	HP:0003002	Breast carcinoma
OMIM:612555	KLLN	100144748	HP:0000006	Autosomal dominant inheritance
OMIM:612555	TP53	7157	HP:0001426	Multifactorial inheritance
OMIM:612555	TP53	7157	HP:0003002	Breast carcinoma
OMIM:612555	TP53	7157	HP:0000006	Autosomal dominant inheritance
OMIM:612555	RAD54L	8438	HP:0001426	Multifactorial inheritance
OMIM:612555	RAD54L	8438	HP:0003002	Breast carcinoma
OMIM:612555	RAD54L	8438	HP:0000006	Autosomal dominant inheritance
OMIM:612555	BRIP1	83990	HP:0001426	Multifactorial inheritance
OMIM:612555	BRIP1	83990	HP:0003002	Breast carcinoma
OMIM:612555	BRIP1	83990	HP:0000006	Autosomal dominant inheritance
OMIM:612555	XRCC2	7516	HP:0001426	Multifactorial inheritance
OMIM:612555	XRCC2	7516	HP:0003002	Breast carcinoma
OMIM:612555	XRCC2	7516	HP:0000006	Autosomal dominant inheritance
OMIM:612555	RAD50	10111	HP:0001426	Multifactorial inheritance
OMIM:612555	RAD50	10111	HP:0003002	Breast carcinoma
OMIM:612555	RAD50	10111	HP:0000006	Autosomal dominant inheritance
OMIM:614831	GRM1	2911	HP:0002075	Dysdiadochokinesis
OMIM:614831	GRM1	2911	HP:0004322	Short stature
OMIM:614831	GRM1	2911	HP:0001252	Muscular hypotonia
OMIM:614831	GRM1	2911	HP:0001310	Dysmetria
OMIM:614831	GRM1	2911	HP:0003593	Infantile onset
OMIM:614831	GRM1	2911	HP:0000508	Ptosis
OMIM:614831	GRM1	2911	HP:0002119	Ventriculomegaly
OMIM:614831	GRM1	2911	HP:0000571	Hypometric saccades
OMIM:614831	GRM1	2911	HP:0003677	Slow progression
OMIM:614831	GRM1	2911	HP:0001337	Tremor
OMIM:614831	GRM1	2911	HP:0001250	Seizures
OMIM:614831	GRM1	2911	HP:0001249	Intellectual disability
OMIM:614831	GRM1	2911	HP:0001347	Hyperreflexia
OMIM:614831	GRM1	2911	HP:0000565	Esotropia
OMIM:614831	GRM1	2911	HP:0001260	Dysarthria
OMIM:614831	GRM1	2911	HP:0001763	Pes planus
OMIM:614831	GRM1	2911	HP:0000007	Autosomal recessive inheritance
OMIM:614831	GRM1	2911	HP:0001263	Global developmental delay
OMIM:614831	GRM1	2911	HP:0001272	Cerebellar atrophy
OMIM:615382	ANKS6	203286	HP:0000113	Polycystic kidney dysplasia
OMIM:615382	ANKS6	203286	HP:0001643	Patent ductus arteriosus
OMIM:615382	ANKS6	203286	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615382	ANKS6	203286	HP:0001396	Cholestasis
OMIM:615382	ANKS6	203286	HP:0000090	Nephronophthisis
OMIM:615382	ANKS6	203286	HP:0001642	Pulmonic stenosis
OMIM:615382	ANKS6	203286	HP:0000007	Autosomal recessive inheritance
OMIM:615382	ANKS6	203286	HP:0001395	Hepatic fibrosis
OMIM:615382	ANKS6	203286	HP:0000083	Renal insufficiency
OMIM:615382	ANKS6	203286	HP:0001696	Situs inversus totalis
OMIM:615382	ANKS6	203286	HP:0001650	Aortic valve stenosis
OMIM:163000	GNAQ	2776	HP:0100543	Cognitive impairment
OMIM:163000	GNAQ	2776	HP:0011675	Arrhythmia
OMIM:163000	GNAQ	2776	HP:0000501	Glaucoma
OMIM:163000	GNAQ	2776	HP:0001034	Hypermelanotic macule
OMIM:163000	GNAQ	2776	HP:0004374	Hemiplegia/hemiparesis
OMIM:163000	GNAQ	2776	HP:0002204	Pulmonary embolism
OMIM:163000	GNAQ	2776	HP:0002170	Intracranial hemorrhage
OMIM:163000	GNAQ	2776	HP:0005293	Venous insufficiency
OMIM:163000	GNAQ	2776	HP:0200042	Skin ulcer
OMIM:163000	GNAQ	2776	HP:0001291	Abnormality of the cranial nerves
OMIM:163000	GNAQ	2776	HP:0002650	Scoliosis
OMIM:163000	GNAQ	2776	HP:0000006	Autosomal dominant inheritance
OMIM:163000	GNAQ	2776	HP:0001250	Seizures
OMIM:163000	GNAQ	2776	HP:0002514	Cerebral calcification
OMIM:163000	GNAQ	2776	HP:0002817	Abnormality of the upper limb
OMIM:163000	GNAQ	2776	HP:0004418	Thrombophlebitis
OMIM:163000	GNAQ	2776	HP:0100026	Arteriovenous malformation
OMIM:163000	GNAQ	2776	HP:0000969	Edema
OMIM:616067	SRY	6736	HP:0000062	Ambiguous genitalia
OMIM:616067	SRY	6736	HP:0000063	Fused labia minora
OMIM:616067	SRY	6736	HP:0000729	Autistic behavior
OMIM:616067	WT1	7490	HP:0000062	Ambiguous genitalia
OMIM:616067	WT1	7490	HP:0000063	Fused labia minora
OMIM:616067	WT1	7490	HP:0000729	Autistic behavior
OMIM:616067	GATA4	2626	HP:0000062	Ambiguous genitalia
OMIM:616067	GATA4	2626	HP:0000063	Fused labia minora
OMIM:616067	GATA4	2626	HP:0000729	Autistic behavior
OMIM:616067	NR5A1	2516	HP:0000062	Ambiguous genitalia
OMIM:616067	NR5A1	2516	HP:0000063	Fused labia minora
OMIM:616067	NR5A1	2516	HP:0000729	Autistic behavior
OMIM:616067	ZFPM2	23414	HP:0000062	Ambiguous genitalia
OMIM:616067	ZFPM2	23414	HP:0000063	Fused labia minora
OMIM:616067	ZFPM2	23414	HP:0000729	Autistic behavior
OMIM:616067	SOX9	6662	HP:0000062	Ambiguous genitalia
OMIM:616067	SOX9	6662	HP:0000063	Fused labia minora
OMIM:616067	SOX9	6662	HP:0000729	Autistic behavior
OMIM:616067	MAP3K1	4214	HP:0000062	Ambiguous genitalia
OMIM:616067	MAP3K1	4214	HP:0000063	Fused labia minora
OMIM:616067	MAP3K1	4214	HP:0000729	Autistic behavior
OMIM:616067	WWOX	51741	HP:0000062	Ambiguous genitalia
OMIM:616067	WWOX	51741	HP:0000063	Fused labia minora
OMIM:616067	WWOX	51741	HP:0000729	Autistic behavior
OMIM:616067	VAMP7	6845	HP:0000062	Ambiguous genitalia
OMIM:616067	VAMP7	6845	HP:0000063	Fused labia minora
OMIM:616067	VAMP7	6845	HP:0000729	Autistic behavior
OMIM:616067	NR0B1	190	HP:0000062	Ambiguous genitalia
OMIM:616067	NR0B1	190	HP:0000063	Fused labia minora
OMIM:616067	NR0B1	190	HP:0000729	Autistic behavior
OMIM:609549	MFRP	83552	HP:0000007	Autosomal recessive inheritance
OMIM:609549	MFRP	83552	HP:0000568	Microphthalmia
OMIM:609549	TMEM98	26022	HP:0000007	Autosomal recessive inheritance
OMIM:609549	TMEM98	26022	HP:0000568	Microphthalmia
OMIM:604352	ADGRV1	84059	HP:0003593	Infantile onset
OMIM:604352	ADGRV1	84059	HP:0011463	Childhood onset
OMIM:604352	ADGRV1	84059	HP:0000006	Autosomal dominant inheritance
OMIM:604352	ADGRV1	84059	HP:0010818	Generalized tonic seizures
OMIM:604352	ADGRV1	84059	HP:0010819	Atonic seizures
OMIM:604352	ADGRV1	84059	HP:0002373	Febrile seizures
OMIM:604352	ADGRV1	84059	HP:0002069	Generalized tonic-clonic seizures
OMIM:602088	INVS	27130	HP:0002089	Pulmonary hypoplasia
OMIM:602088	INVS	27130	HP:0002153	Hyperkalemia
OMIM:602088	INVS	27130	HP:0000090	Nephronophthisis
OMIM:602088	INVS	27130	HP:0003774	Stage 5 chronic kidney disease
OMIM:602088	INVS	27130	HP:0000007	Autosomal recessive inheritance
OMIM:602088	INVS	27130	HP:0000822	Hypertension
OMIM:602088	INVS	27130	HP:0001562	Oligohydramnios
OMIM:602088	INVS	27130	HP:0001696	Situs inversus totalis
OMIM:602088	INVS	27130	HP:0004734	Renal cortical microcysts
OMIM:602088	INVS	27130	HP:0002878	Respiratory failure
OMIM:602088	INVS	27130	HP:0004719	Hyperechogenic kidneys
OMIM:602088	INVS	27130	HP:0010444	Pulmonary insufficiency
OMIM:602088	INVS	27130	HP:0003259	Elevated serum creatinine
OMIM:156400	PTH1R	5745	HP:0003510	Severe short stature
OMIM:156400	PTH1R	5745	HP:0003026	Short long bone
OMIM:156400	PTH1R	5745	HP:0002515	Waddling gait
OMIM:156400	PTH1R	5745	HP:0000121	Nephrocalcinosis
OMIM:156400	PTH1R	5745	HP:0002148	Hypophosphatemia
OMIM:156400	PTH1R	5745	HP:0006487	Bowing of the long bones
OMIM:156400	PTH1R	5745	HP:0000407	Sensorineural hearing impairment
OMIM:156400	PTH1R	5745	HP:0002983	Micromelia
OMIM:156400	PTH1R	5745	HP:0000692	Misalignment of teeth
OMIM:156400	PTH1R	5745	HP:0000347	Micrognathia
OMIM:156400	PTH1R	5745	HP:0003072	Hypercalcemia
OMIM:156400	PTH1R	5745	HP:0002756	Pathologic fracture
OMIM:156400	PTH1R	5745	HP:0002007	Frontal bossing
OMIM:156400	PTH1R	5745	HP:0000248	Brachycephaly
OMIM:156400	PTH1R	5745	HP:0006380	Knee flexion contracture
OMIM:156400	PTH1R	5745	HP:0000773	Short ribs
OMIM:156400	PTH1R	5745	HP:0003021	Metaphyseal cupping
OMIM:156400	PTH1R	5745	HP:0001156	Brachydactyly syndrome
OMIM:156400	PTH1R	5745	HP:0003273	Hip contracture
OMIM:156400	PTH1R	5745	HP:0004209	Clinodactyly of the 5th finger
OMIM:156400	PTH1R	5745	HP:0000316	Hypertelorism
OMIM:156400	PTH1R	5745	HP:0011001	Increased bone mineral density
OMIM:156400	PTH1R	5745	HP:0000453	Choanal atresia
OMIM:156400	PTH1R	5745	HP:0000520	Proptosis
OMIM:156400	PTH1R	5745	HP:0002150	Hypercalciuria
OMIM:156400	PTH1R	5745	HP:0000452	Choanal stenosis
OMIM:156400	PTH1R	5745	HP:0000829	Hypoparathyroidism
OMIM:156400	PTH1R	5745	HP:0100530	Abnormality of calcium-phosphate metabolism
OMIM:156400	PTH1R	5745	HP:0000938	Osteopenia
OMIM:156400	PTH1R	5745	HP:0000774	Narrow chest
OMIM:156400	PTH1R	5745	HP:0004493	Craniofacial hyperostosis
OMIM:156400	PTH1R	5745	HP:0000006	Autosomal dominant inheritance
OMIM:603964	DIAPH1	1729	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	DIAPH1	1729	HP:0000360	Tinnitus
OMIM:603964	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:603964	CEACAM16	388551	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	CEACAM16	388551	HP:0000360	Tinnitus
OMIM:603964	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:603964	SLC17A8	246213	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	SLC17A8	246213	HP:0000360	Tinnitus
OMIM:603964	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:603964	TJP2	9414	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	TJP2	9414	HP:0000360	Tinnitus
OMIM:603964	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:603964	ACTG1	71	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	ACTG1	71	HP:0000360	Tinnitus
OMIM:603964	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:603964	CCDC50	152137	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	CCDC50	152137	HP:0000360	Tinnitus
OMIM:603964	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:603964	MIR96	407053	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	MIR96	407053	HP:0000360	Tinnitus
OMIM:603964	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:603964	GJB2	2706	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	GJB2	2706	HP:0000360	Tinnitus
OMIM:603964	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:603964	POU4F3	5459	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	POU4F3	5459	HP:0000360	Tinnitus
OMIM:603964	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:603964	GJB3	2707	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	GJB3	2707	HP:0000360	Tinnitus
OMIM:603964	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:603964	MYH9	4627	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	MYH9	4627	HP:0000360	Tinnitus
OMIM:603964	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:603964	CRYM	1428	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	CRYM	1428	HP:0000360	Tinnitus
OMIM:603964	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:603964	COL11A2	1302	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	COL11A2	1302	HP:0000360	Tinnitus
OMIM:603964	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:603964	EYA4	2070	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	EYA4	2070	HP:0000360	Tinnitus
OMIM:603964	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:603964	DFNA5	1687	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	DFNA5	1687	HP:0000360	Tinnitus
OMIM:603964	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:603964	DIAPH3	81624	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	DIAPH3	81624	HP:0000360	Tinnitus
OMIM:603964	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:603964	TMC1	117531	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	TMC1	117531	HP:0000360	Tinnitus
OMIM:603964	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:603964	COCH	1690	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	COCH	1690	HP:0000360	Tinnitus
OMIM:603964	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:603964	OSBPL2	9885	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	OSBPL2	9885	HP:0000360	Tinnitus
OMIM:603964	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:603964	SIX1	6495	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	SIX1	6495	HP:0000360	Tinnitus
OMIM:603964	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:603964	TECTA	7007	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	TECTA	7007	HP:0000360	Tinnitus
OMIM:603964	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:603964	MYO1A	4640	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	MYO1A	4640	HP:0000360	Tinnitus
OMIM:603964	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:603964	MYO1C	4641	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	MYO1C	4641	HP:0000360	Tinnitus
OMIM:603964	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:603964	MYO6	4646	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	MYO6	4646	HP:0000360	Tinnitus
OMIM:603964	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:603964	MYO7A	4647	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	MYO7A	4647	HP:0000360	Tinnitus
OMIM:603964	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:603964	GRHL2	79977	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	GRHL2	79977	HP:0000360	Tinnitus
OMIM:603964	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:603964	DIABLO	56616	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	DIABLO	56616	HP:0000360	Tinnitus
OMIM:603964	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:603964	MYH14	79784	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	MYH14	79784	HP:0000360	Tinnitus
OMIM:603964	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:603964	P2RX2	22953	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	P2RX2	22953	HP:0000360	Tinnitus
OMIM:603964	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:603964	WFS1	7466	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	WFS1	7466	HP:0000360	Tinnitus
OMIM:603964	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:603964	TNC	3371	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	TNC	3371	HP:0000360	Tinnitus
OMIM:603964	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:603964	KCNQ4	9132	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	KCNQ4	9132	HP:0000360	Tinnitus
OMIM:603964	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:603964	HOMER2	9455	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	HOMER2	9455	HP:0000360	Tinnitus
OMIM:603964	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:603964	GJB6	10804	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	GJB6	10804	HP:0000360	Tinnitus
OMIM:603964	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:603964	TBC1D24	57465	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:603964	TBC1D24	57465	HP:0000360	Tinnitus
OMIM:603964	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:612562	TSR2	90121	HP:0000006	Autosomal dominant inheritance
OMIM:612562	TSR2	90121	HP:0001199	Triphalangeal thumb
OMIM:612562	TSR2	90121	HP:0000076	Vesicoureteral reflux
OMIM:612562	TSR2	90121	HP:0000085	Horseshoe kidney
OMIM:612562	TSR2	90121	HP:0001972	Macrocytic anemia
OMIM:612562	TSR2	90121	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPS17	6218	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPS17	6218	HP:0001199	Triphalangeal thumb
OMIM:612562	RPS17	6218	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPS17	6218	HP:0000085	Horseshoe kidney
OMIM:612562	RPS17	6218	HP:0001972	Macrocytic anemia
OMIM:612562	RPS17	6218	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPL26	6154	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPL26	6154	HP:0001199	Triphalangeal thumb
OMIM:612562	RPL26	6154	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPL26	6154	HP:0000085	Horseshoe kidney
OMIM:612562	RPL26	6154	HP:0001972	Macrocytic anemia
OMIM:612562	RPL26	6154	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPL5	6125	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPL5	6125	HP:0001199	Triphalangeal thumb
OMIM:612562	RPL5	6125	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPL5	6125	HP:0000085	Horseshoe kidney
OMIM:612562	RPL5	6125	HP:0001972	Macrocytic anemia
OMIM:612562	RPL5	6125	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPS19	6223	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPS19	6223	HP:0001199	Triphalangeal thumb
OMIM:612562	RPS19	6223	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPS19	6223	HP:0000085	Horseshoe kidney
OMIM:612562	RPS19	6223	HP:0001972	Macrocytic anemia
OMIM:612562	RPS19	6223	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPS24	6229	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPS24	6229	HP:0001199	Triphalangeal thumb
OMIM:612562	RPS24	6229	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPS24	6229	HP:0000085	Horseshoe kidney
OMIM:612562	RPS24	6229	HP:0001972	Macrocytic anemia
OMIM:612562	RPS24	6229	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPL35A	6165	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPL35A	6165	HP:0001199	Triphalangeal thumb
OMIM:612562	RPL35A	6165	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPL35A	6165	HP:0000085	Horseshoe kidney
OMIM:612562	RPL35A	6165	HP:0001972	Macrocytic anemia
OMIM:612562	RPL35A	6165	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPL11	6135	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPL11	6135	HP:0001199	Triphalangeal thumb
OMIM:612562	RPL11	6135	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPL11	6135	HP:0000085	Horseshoe kidney
OMIM:612562	RPL11	6135	HP:0001972	Macrocytic anemia
OMIM:612562	RPL11	6135	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPS26	6231	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPS26	6231	HP:0001199	Triphalangeal thumb
OMIM:612562	RPS26	6231	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPS26	6231	HP:0000085	Horseshoe kidney
OMIM:612562	RPS26	6231	HP:0001972	Macrocytic anemia
OMIM:612562	RPS26	6231	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPS7	6201	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPS7	6201	HP:0001199	Triphalangeal thumb
OMIM:612562	RPS7	6201	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPS7	6201	HP:0000085	Horseshoe kidney
OMIM:612562	RPS7	6201	HP:0001972	Macrocytic anemia
OMIM:612562	RPS7	6201	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPL15	6138	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPL15	6138	HP:0001199	Triphalangeal thumb
OMIM:612562	RPL15	6138	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPL15	6138	HP:0000085	Horseshoe kidney
OMIM:612562	RPL15	6138	HP:0001972	Macrocytic anemia
OMIM:612562	RPL15	6138	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPS28	6234	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPS28	6234	HP:0001199	Triphalangeal thumb
OMIM:612562	RPS28	6234	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPS28	6234	HP:0000085	Horseshoe kidney
OMIM:612562	RPS28	6234	HP:0001972	Macrocytic anemia
OMIM:612562	RPS28	6234	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPS29	6235	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPS29	6235	HP:0001199	Triphalangeal thumb
OMIM:612562	RPS29	6235	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPS29	6235	HP:0000085	Horseshoe kidney
OMIM:612562	RPS29	6235	HP:0001972	Macrocytic anemia
OMIM:612562	RPS29	6235	HP:0001636	Tetralogy of Fallot
OMIM:612562	RPS10	6204	HP:0000006	Autosomal dominant inheritance
OMIM:612562	RPS10	6204	HP:0001199	Triphalangeal thumb
OMIM:612562	RPS10	6204	HP:0000076	Vesicoureteral reflux
OMIM:612562	RPS10	6204	HP:0000085	Horseshoe kidney
OMIM:612562	RPS10	6204	HP:0001972	Macrocytic anemia
OMIM:612562	RPS10	6204	HP:0001636	Tetralogy of Fallot
OMIM:612562	GATA1	2623	HP:0000006	Autosomal dominant inheritance
OMIM:612562	GATA1	2623	HP:0001199	Triphalangeal thumb
OMIM:612562	GATA1	2623	HP:0000076	Vesicoureteral reflux
OMIM:612562	GATA1	2623	HP:0000085	Horseshoe kidney
OMIM:612562	GATA1	2623	HP:0001972	Macrocytic anemia
OMIM:612562	GATA1	2623	HP:0001636	Tetralogy of Fallot
OMIM:274300	THRB	7068	HP:0000520	Proptosis
OMIM:274300	THRB	7068	HP:0000365	Hearing impairment
OMIM:274300	THRB	7068	HP:0001518	Small for gestational age
OMIM:274300	THRB	7068	HP:0010655	Epiphyseal stippling
OMIM:274300	THRB	7068	HP:0000853	Goiter
OMIM:274300	THRB	7068	HP:0000007	Autosomal recessive inheritance
OMIM:613065	FLT3	2322	HP:0010982	Polygenic inheritance
OMIM:613065	FLT3	2322	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	NUP214	8021	HP:0010982	Polygenic inheritance
OMIM:613065	NUP214	8021	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	BAX	581	HP:0010982	Polygenic inheritance
OMIM:613065	BAX	581	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	BCR	613	HP:0010982	Polygenic inheritance
OMIM:613065	BCR	613	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	TAL1	6886	HP:0010982	Polygenic inheritance
OMIM:613065	TAL1	6886	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	TAL2	6887	HP:0010982	Polygenic inheritance
OMIM:613065	TAL2	6887	HP:0006721	Acute lymphoblastic leukemia
OMIM:613065	NBN	4683	HP:0010982	Polygenic inheritance
OMIM:613065	NBN	4683	HP:0006721	Acute lymphoblastic leukemia
OMIM:607476	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:607476	RLBP1	6017	HP:0000556	Retinal dystrophy
OMIM:607476	RLBP1	6017	HP:0000575	Scotoma
OMIM:607476	RLBP1	6017	HP:0000505	Visual impairment
OMIM:607476	RLBP1	6017	HP:0000551	Abnormality of color vision
OMIM:607476	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:300523	SLC16A2	6567	HP:0011344	Severe global developmental delay
OMIM:300523	SLC16A2	6567	HP:0006887	Intellectual disability, progressive
OMIM:300523	SLC16A2	6567	HP:0000464	Abnormality of the neck
OMIM:300523	SLC16A2	6567	HP:0000275	Narrow face
OMIM:300523	SLC16A2	6567	HP:0000821	Hypothyroidism
OMIM:300523	SLC16A2	6567	HP:0001763	Pes planus
OMIM:300523	SLC16A2	6567	HP:0000549	Abnormal conjugate eye movement
OMIM:300523	SLC16A2	6567	HP:0001260	Dysarthria
OMIM:300523	SLC16A2	6567	HP:0001319	Neonatal hypotonia
OMIM:300523	SLC16A2	6567	HP:0002514	Cerebral calcification
OMIM:300523	SLC16A2	6567	HP:0002510	Spastic tetraplegia
OMIM:300523	SLC16A2	6567	HP:0000341	Narrow forehead
OMIM:300523	SLC16A2	6567	HP:0001423	X-linked dominant inheritance
OMIM:300523	SLC16A2	6567	HP:0000508	Ptosis
OMIM:300523	SLC16A2	6567	HP:0000954	Single transverse palmar crease
OMIM:300523	SLC16A2	6567	HP:0001583	Rotary nystagmus
OMIM:300523	SLC16A2	6567	HP:0000520	Proptosis
OMIM:300523	SLC16A2	6567	HP:0001547	Abnormality of the rib cage
OMIM:300523	SLC16A2	6567	HP:0002540	Inability to walk
OMIM:300523	SLC16A2	6567	HP:0100543	Cognitive impairment
OMIM:300523	SLC16A2	6567	HP:0000400	Macrotia
OMIM:300523	SLC16A2	6567	HP:0001376	Limitation of joint mobility
OMIM:300523	SLC16A2	6567	HP:0010864	Intellectual disability, severe
OMIM:300523	SLC16A2	6567	HP:0003577	Congenital onset
OMIM:300523	SLC16A2	6567	HP:0008872	Feeding difficulties in infancy
OMIM:300523	SLC16A2	6567	HP:0003202	Skeletal muscle atrophy
OMIM:300523	SLC16A2	6567	HP:0001288	Gait disturbance
OMIM:300523	SLC16A2	6567	HP:0001822	Hallux valgus
OMIM:300523	SLC16A2	6567	HP:0002311	Incoordination
OMIM:300523	SLC16A2	6567	HP:0002650	Scoliosis
OMIM:300523	SLC16A2	6567	HP:0002188	Delayed CNS myelination
OMIM:300523	SLC16A2	6567	HP:0000194	Open mouth
OMIM:300523	SLC16A2	6567	HP:0000737	Irritability
OMIM:300523	SLC16A2	6567	HP:0001347	Hyperreflexia
OMIM:300523	SLC16A2	6567	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:300523	SLC16A2	6567	HP:0002307	Drooling
OMIM:300523	SLC16A2	6567	HP:0001371	Flexion contracture
OMIM:300523	SLC16A2	6567	HP:0001251	Ataxia
OMIM:300523	SLC16A2	6567	HP:0100490	Camptodactyly of finger
OMIM:300523	SLC16A2	6567	HP:0000767	Pectus excavatum
OMIM:300523	SLC16A2	6567	HP:0002169	Clonus
OMIM:300523	SLC16A2	6567	HP:0003487	Babinski sign
OMIM:300523	SLC16A2	6567	HP:0001258	Spastic paraplegia
OMIM:300523	SLC16A2	6567	HP:0002167	Neurological speech impairment
OMIM:300523	SLC16A2	6567	HP:0000582	Upslanted palpebral fissure
OMIM:300523	SLC16A2	6567	HP:0000252	Microcephaly
OMIM:300523	SLC16A2	6567	HP:0002415	Leukodystrophy
OMIM:300539	AVPR2	554	HP:0000737	Irritability
OMIM:300539	AVPR2	554	HP:0001419	X-linked recessive inheritance
OMIM:300539	AVPR2	554	HP:0001250	Seizures
OMIM:300539	AVPR2	554	HP:0004421	Elevated systolic blood pressure
OMIM:612076	SLC22A12	116085	HP:0000787	Nephrolithiasis
OMIM:612076	SLC22A12	116085	HP:0000006	Autosomal dominant inheritance
OMIM:612076	SLC2A9	56606	HP:0000787	Nephrolithiasis
OMIM:612076	SLC2A9	56606	HP:0000006	Autosomal dominant inheritance
OMIM:612692	BLNK	29760	HP:0004432	Agammaglobulinemia
OMIM:612692	BLNK	29760	HP:0006532	Recurrent pneumonia
OMIM:612692	BLNK	29760	HP:0002014	Diarrhea
OMIM:612692	BLNK	29760	HP:0000007	Autosomal recessive inheritance
OMIM:612692	BLNK	29760	HP:0011109	Chronic sinusitis
OMIM:612692	BLNK	29760	HP:0000509	Conjunctivitis
OMIM:612692	BLNK	29760	HP:0002837	Recurrent bronchitis
OMIM:612692	BLNK	29760	HP:0000403	Recurrent otitis media
OMIM:612692	BLNK	29760	HP:0002718	Recurrent bacterial infections
OMIM:612692	BLNK	29760	HP:0003593	Infantile onset
OMIM:612692	TCF3	6929	HP:0004432	Agammaglobulinemia
OMIM:612692	TCF3	6929	HP:0006532	Recurrent pneumonia
OMIM:612692	TCF3	6929	HP:0002014	Diarrhea
OMIM:612692	TCF3	6929	HP:0000007	Autosomal recessive inheritance
OMIM:612692	TCF3	6929	HP:0011109	Chronic sinusitis
OMIM:612692	TCF3	6929	HP:0000509	Conjunctivitis
OMIM:612692	TCF3	6929	HP:0002837	Recurrent bronchitis
OMIM:612692	TCF3	6929	HP:0000403	Recurrent otitis media
OMIM:612692	TCF3	6929	HP:0002718	Recurrent bacterial infections
OMIM:612692	TCF3	6929	HP:0003593	Infantile onset
OMIM:612692	IGHM	3507	HP:0004432	Agammaglobulinemia
OMIM:612692	IGHM	3507	HP:0006532	Recurrent pneumonia
OMIM:612692	IGHM	3507	HP:0002014	Diarrhea
OMIM:612692	IGHM	3507	HP:0000007	Autosomal recessive inheritance
OMIM:612692	IGHM	3507	HP:0011109	Chronic sinusitis
OMIM:612692	IGHM	3507	HP:0000509	Conjunctivitis
OMIM:612692	IGHM	3507	HP:0002837	Recurrent bronchitis
OMIM:612692	IGHM	3507	HP:0000403	Recurrent otitis media
OMIM:612692	IGHM	3507	HP:0002718	Recurrent bacterial infections
OMIM:612692	IGHM	3507	HP:0003593	Infantile onset
OMIM:612692	LRRC8A	56262	HP:0004432	Agammaglobulinemia
OMIM:612692	LRRC8A	56262	HP:0006532	Recurrent pneumonia
OMIM:612692	LRRC8A	56262	HP:0002014	Diarrhea
OMIM:612692	LRRC8A	56262	HP:0000007	Autosomal recessive inheritance
OMIM:612692	LRRC8A	56262	HP:0011109	Chronic sinusitis
OMIM:612692	LRRC8A	56262	HP:0000509	Conjunctivitis
OMIM:612692	LRRC8A	56262	HP:0002837	Recurrent bronchitis
OMIM:612692	LRRC8A	56262	HP:0000403	Recurrent otitis media
OMIM:612692	LRRC8A	56262	HP:0002718	Recurrent bacterial infections
OMIM:612692	LRRC8A	56262	HP:0003593	Infantile onset
OMIM:612692	IGLL1	3543	HP:0004432	Agammaglobulinemia
OMIM:612692	IGLL1	3543	HP:0006532	Recurrent pneumonia
OMIM:612692	IGLL1	3543	HP:0002014	Diarrhea
OMIM:612692	IGLL1	3543	HP:0000007	Autosomal recessive inheritance
OMIM:612692	IGLL1	3543	HP:0011109	Chronic sinusitis
OMIM:612692	IGLL1	3543	HP:0000509	Conjunctivitis
OMIM:612692	IGLL1	3543	HP:0002837	Recurrent bronchitis
OMIM:612692	IGLL1	3543	HP:0000403	Recurrent otitis media
OMIM:612692	IGLL1	3543	HP:0002718	Recurrent bacterial infections
OMIM:612692	IGLL1	3543	HP:0003593	Infantile onset
OMIM:612692	CD79A	973	HP:0004432	Agammaglobulinemia
OMIM:612692	CD79A	973	HP:0006532	Recurrent pneumonia
OMIM:612692	CD79A	973	HP:0002014	Diarrhea
OMIM:612692	CD79A	973	HP:0000007	Autosomal recessive inheritance
OMIM:612692	CD79A	973	HP:0011109	Chronic sinusitis
OMIM:612692	CD79A	973	HP:0000509	Conjunctivitis
OMIM:612692	CD79A	973	HP:0002837	Recurrent bronchitis
OMIM:612692	CD79A	973	HP:0000403	Recurrent otitis media
OMIM:612692	CD79A	973	HP:0002718	Recurrent bacterial infections
OMIM:612692	CD79A	973	HP:0003593	Infantile onset
OMIM:612692	CD79B	974	HP:0004432	Agammaglobulinemia
OMIM:612692	CD79B	974	HP:0006532	Recurrent pneumonia
OMIM:612692	CD79B	974	HP:0002014	Diarrhea
OMIM:612692	CD79B	974	HP:0000007	Autosomal recessive inheritance
OMIM:612692	CD79B	974	HP:0011109	Chronic sinusitis
OMIM:612692	CD79B	974	HP:0000509	Conjunctivitis
OMIM:612692	CD79B	974	HP:0002837	Recurrent bronchitis
OMIM:612692	CD79B	974	HP:0000403	Recurrent otitis media
OMIM:612692	CD79B	974	HP:0002718	Recurrent bacterial infections
OMIM:612692	CD79B	974	HP:0003593	Infantile onset
OMIM:612692	PIK3R1	5295	HP:0004432	Agammaglobulinemia
OMIM:612692	PIK3R1	5295	HP:0006532	Recurrent pneumonia
OMIM:612692	PIK3R1	5295	HP:0002014	Diarrhea
OMIM:612692	PIK3R1	5295	HP:0000007	Autosomal recessive inheritance
OMIM:612692	PIK3R1	5295	HP:0011109	Chronic sinusitis
OMIM:612692	PIK3R1	5295	HP:0000509	Conjunctivitis
OMIM:612692	PIK3R1	5295	HP:0002837	Recurrent bronchitis
OMIM:612692	PIK3R1	5295	HP:0000403	Recurrent otitis media
OMIM:612692	PIK3R1	5295	HP:0002718	Recurrent bacterial infections
OMIM:612692	PIK3R1	5295	HP:0003593	Infantile onset
OMIM:605289	BTRC	8945	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:605289	BTRC	8945	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
OMIM:605289	BTRC	8945	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:605289	BTRC	8945	HP:0000006	Autosomal dominant inheritance
OMIM:605289	BTRC	8945	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:605289	BTRC	8945	HP:0001159	Syndactyly
OMIM:605289	BTRC	8945	HP:0001171	Split hand
OMIM:605289	BTRC	8945	HP:0100257	Ectrodactyly
OMIM:605289	BTRC	8945	HP:0001199	Triphalangeal thumb
OMIM:605289	TP63	8626	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:605289	TP63	8626	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
OMIM:605289	TP63	8626	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:605289	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:605289	TP63	8626	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:605289	TP63	8626	HP:0001159	Syndactyly
OMIM:605289	TP63	8626	HP:0001171	Split hand
OMIM:605289	TP63	8626	HP:0100257	Ectrodactyly
OMIM:605289	TP63	8626	HP:0001199	Triphalangeal thumb
OMIM:605289	FBXW4	6468	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:605289	FBXW4	6468	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
OMIM:605289	FBXW4	6468	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:605289	FBXW4	6468	HP:0000006	Autosomal dominant inheritance
OMIM:605289	FBXW4	6468	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:605289	FBXW4	6468	HP:0001159	Syndactyly
OMIM:605289	FBXW4	6468	HP:0001171	Split hand
OMIM:605289	FBXW4	6468	HP:0100257	Ectrodactyly
OMIM:605289	FBXW4	6468	HP:0001199	Triphalangeal thumb
OMIM:605289	DLX5	1749	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:605289	DLX5	1749	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
OMIM:605289	DLX5	1749	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:605289	DLX5	1749	HP:0000006	Autosomal dominant inheritance
OMIM:605289	DLX5	1749	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:605289	DLX5	1749	HP:0001159	Syndactyly
OMIM:605289	DLX5	1749	HP:0001171	Split hand
OMIM:605289	DLX5	1749	HP:0100257	Ectrodactyly
OMIM:605289	DLX5	1749	HP:0001199	Triphalangeal thumb
OMIM:605289	WNT10B	7480	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:605289	WNT10B	7480	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
OMIM:605289	WNT10B	7480	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:605289	WNT10B	7480	HP:0000006	Autosomal dominant inheritance
OMIM:605289	WNT10B	7480	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:605289	WNT10B	7480	HP:0001159	Syndactyly
OMIM:605289	WNT10B	7480	HP:0001171	Split hand
OMIM:605289	WNT10B	7480	HP:0100257	Ectrodactyly
OMIM:605289	WNT10B	7480	HP:0001199	Triphalangeal thumb
OMIM:605289	SHFM1	7979	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:605289	SHFM1	7979	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
OMIM:605289	SHFM1	7979	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:605289	SHFM1	7979	HP:0000006	Autosomal dominant inheritance
OMIM:605289	SHFM1	7979	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:605289	SHFM1	7979	HP:0001159	Syndactyly
OMIM:605289	SHFM1	7979	HP:0001171	Split hand
OMIM:605289	SHFM1	7979	HP:0100257	Ectrodactyly
OMIM:605289	SHFM1	7979	HP:0001199	Triphalangeal thumb
OMIM:608864	IRF6	3664	HP:0000175	Cleft palate
OMIM:608864	IRF6	3664	HP:0010982	Polygenic inheritance
OMIM:608864	IRF6	3664	HP:0000204	Cleft upper lip
OMIM:613688	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:613688	CALM1	801	HP:0001663	Ventricular fibrillation
OMIM:613688	CALM1	801	HP:0001279	Syncope
OMIM:613688	CALM1	801	HP:0001645	Sudden cardiac death
OMIM:613688	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:613688	CALM1	801	HP:0001664	Torsade de pointes
OMIM:613688	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:613688	CALM2	805	HP:0001663	Ventricular fibrillation
OMIM:613688	CALM2	805	HP:0001279	Syncope
OMIM:613688	CALM2	805	HP:0001645	Sudden cardiac death
OMIM:613688	CALM2	805	HP:0001657	Prolonged QT interval
OMIM:613688	CALM2	805	HP:0001664	Torsade de pointes
OMIM:613688	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:613688	KCNE2	9992	HP:0001663	Ventricular fibrillation
OMIM:613688	KCNE2	9992	HP:0001279	Syncope
OMIM:613688	KCNE2	9992	HP:0001645	Sudden cardiac death
OMIM:613688	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:613688	KCNE2	9992	HP:0001664	Torsade de pointes
OMIM:613688	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:613688	KCNQ1	3784	HP:0001663	Ventricular fibrillation
OMIM:613688	KCNQ1	3784	HP:0001279	Syncope
OMIM:613688	KCNQ1	3784	HP:0001645	Sudden cardiac death
OMIM:613688	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:613688	KCNQ1	3784	HP:0001664	Torsade de pointes
OMIM:613688	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:613688	KCNE1	3753	HP:0001663	Ventricular fibrillation
OMIM:613688	KCNE1	3753	HP:0001279	Syncope
OMIM:613688	KCNE1	3753	HP:0001645	Sudden cardiac death
OMIM:613688	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:613688	KCNE1	3753	HP:0001664	Torsade de pointes
OMIM:613688	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:613688	KCNH2	3757	HP:0001663	Ventricular fibrillation
OMIM:613688	KCNH2	3757	HP:0001279	Syncope
OMIM:613688	KCNH2	3757	HP:0001645	Sudden cardiac death
OMIM:613688	KCNH2	3757	HP:0001657	Prolonged QT interval
OMIM:613688	KCNH2	3757	HP:0001664	Torsade de pointes
OMIM:613688	SNTA1	6640	HP:0000006	Autosomal dominant inheritance
OMIM:613688	SNTA1	6640	HP:0001663	Ventricular fibrillation
OMIM:613688	SNTA1	6640	HP:0001279	Syncope
OMIM:613688	SNTA1	6640	HP:0001645	Sudden cardiac death
OMIM:613688	SNTA1	6640	HP:0001657	Prolonged QT interval
OMIM:613688	SNTA1	6640	HP:0001664	Torsade de pointes
OMIM:613688	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:613688	KCNJ5	3762	HP:0001663	Ventricular fibrillation
OMIM:613688	KCNJ5	3762	HP:0001279	Syncope
OMIM:613688	KCNJ5	3762	HP:0001645	Sudden cardiac death
OMIM:613688	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:613688	KCNJ5	3762	HP:0001664	Torsade de pointes
OMIM:613688	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:613688	SCN4B	6330	HP:0001663	Ventricular fibrillation
OMIM:613688	SCN4B	6330	HP:0001279	Syncope
OMIM:613688	SCN4B	6330	HP:0001645	Sudden cardiac death
OMIM:613688	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:613688	SCN4B	6330	HP:0001664	Torsade de pointes
OMIM:613688	NOS1AP	9722	HP:0000006	Autosomal dominant inheritance
OMIM:613688	NOS1AP	9722	HP:0001663	Ventricular fibrillation
OMIM:613688	NOS1AP	9722	HP:0001279	Syncope
OMIM:613688	NOS1AP	9722	HP:0001645	Sudden cardiac death
OMIM:613688	NOS1AP	9722	HP:0001657	Prolonged QT interval
OMIM:613688	NOS1AP	9722	HP:0001664	Torsade de pointes
OMIM:613688	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613688	SCN5A	6331	HP:0001663	Ventricular fibrillation
OMIM:613688	SCN5A	6331	HP:0001279	Syncope
OMIM:613688	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:613688	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:613688	SCN5A	6331	HP:0001664	Torsade de pointes
OMIM:613688	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:613688	CAV3	859	HP:0001663	Ventricular fibrillation
OMIM:613688	CAV3	859	HP:0001279	Syncope
OMIM:613688	CAV3	859	HP:0001645	Sudden cardiac death
OMIM:613688	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:613688	CAV3	859	HP:0001664	Torsade de pointes
OMIM:613688	AKAP9	10142	HP:0000006	Autosomal dominant inheritance
OMIM:613688	AKAP9	10142	HP:0001663	Ventricular fibrillation
OMIM:613688	AKAP9	10142	HP:0001279	Syncope
OMIM:613688	AKAP9	10142	HP:0001645	Sudden cardiac death
OMIM:613688	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:613688	AKAP9	10142	HP:0001664	Torsade de pointes
OMIM:613688	ANK2	287	HP:0000006	Autosomal dominant inheritance
OMIM:613688	ANK2	287	HP:0001663	Ventricular fibrillation
OMIM:613688	ANK2	287	HP:0001279	Syncope
OMIM:613688	ANK2	287	HP:0001645	Sudden cardiac death
OMIM:613688	ANK2	287	HP:0001657	Prolonged QT interval
OMIM:613688	ANK2	287	HP:0001664	Torsade de pointes
OMIM:219150	ALDH18A1	5832	HP:0001382	Joint hypermobility
OMIM:219150	ALDH18A1	5832	HP:0000973	Cutis laxa
OMIM:219150	ALDH18A1	5832	HP:0002645	Wormian bones
OMIM:219150	ALDH18A1	5832	HP:0007394	Prominent superficial blood vessels
OMIM:219150	ALDH18A1	5832	HP:0000160	Narrow mouth
OMIM:219150	ALDH18A1	5832	HP:0001508	Failure to thrive
OMIM:219150	ALDH18A1	5832	HP:0001347	Hyperreflexia
OMIM:219150	ALDH18A1	5832	HP:0000974	Hyperextensible skin
OMIM:219150	ALDH18A1	5832	HP:0001084	Corneal arcus
OMIM:219150	ALDH18A1	5832	HP:0001537	Umbilical hernia
OMIM:219150	ALDH18A1	5832	HP:0002750	Delayed skeletal maturation
OMIM:219150	ALDH18A1	5832	HP:0000767	Pectus excavatum
OMIM:219150	ALDH18A1	5832	HP:0100543	Cognitive impairment
OMIM:219150	ALDH18A1	5832	HP:0000486	Strabismus
OMIM:219150	ALDH18A1	5832	HP:0000545	Myopia
OMIM:219150	ALDH18A1	5832	HP:0011220	Prominent forehead
OMIM:219150	ALDH18A1	5832	HP:0000007	Autosomal recessive inheritance
OMIM:219150	ALDH18A1	5832	HP:0000028	Cryptorchidism
OMIM:219150	ALDH18A1	5832	HP:0000239	Large fontanelles
OMIM:219150	ALDH18A1	5832	HP:0001250	Seizures
OMIM:219150	ALDH18A1	5832	HP:0001181	Adducted thumb
OMIM:219150	ALDH18A1	5832	HP:0000316	Hypertelorism
OMIM:219150	ALDH18A1	5832	HP:0002007	Frontal bossing
OMIM:219150	ALDH18A1	5832	HP:0000400	Macrotia
OMIM:219150	ALDH18A1	5832	HP:0000518	Cataract
OMIM:219150	ALDH18A1	5832	HP:0003745	Sporadic
OMIM:219150	ALDH18A1	5832	HP:0000248	Brachycephaly
OMIM:219150	ALDH18A1	5832	HP:0010537	Wide cranial sutures
OMIM:219150	ALDH18A1	5832	HP:0001511	Intrauterine growth retardation
OMIM:219150	ALDH18A1	5832	HP:0000023	Inguinal hernia
OMIM:219150	ALDH18A1	5832	HP:0001249	Intellectual disability
OMIM:219150	ALDH18A1	5832	HP:0002305	Athetosis
OMIM:219150	ALDH18A1	5832	HP:0001252	Muscular hypotonia
OMIM:219150	ALDH18A1	5832	HP:0002650	Scoliosis
OMIM:219150	ALDH18A1	5832	HP:0003510	Severe short stature
OMIM:219150	ALDH18A1	5832	HP:0001263	Global developmental delay
OMIM:219150	ALDH18A1	5832	HP:0001374	Congenital hip dislocation
OMIM:219150	ALDH18A1	5832	HP:0000369	Low-set ears
OMIM:219150	ALDH18A1	5832	HP:0008070	Sparse hair
OMIM:219150	ALDH18A1	5832	HP:0001762	Talipes equinovarus
OMIM:219150	ALDH18A1	5832	HP:0000601	Hypotelorism
OMIM:219150	ALDH18A1	5832	HP:0000963	Thin skin
OMIM:230350	GALE	2582	HP:0001249	Intellectual disability
OMIM:230350	GALE	2582	HP:0001744	Splenomegaly
OMIM:230350	GALE	2582	HP:0003355	Aminoaciduria
OMIM:230350	GALE	2582	HP:0000518	Cataract
OMIM:230350	GALE	2582	HP:0000952	Jaundice
OMIM:230350	GALE	2582	HP:0002194	Delayed gross motor development
OMIM:230350	GALE	2582	HP:0001508	Failure to thrive
OMIM:230350	GALE	2582	HP:0002017	Nausea and vomiting
OMIM:230350	GALE	2582	HP:0100543	Cognitive impairment
OMIM:230350	GALE	2582	HP:0002240	Hepatomegaly
OMIM:230350	GALE	2582	HP:0000750	Delayed speech and language development
OMIM:230350	GALE	2582	HP:0012023	Galactosuria
OMIM:230350	GALE	2582	HP:0001824	Weight loss
OMIM:230350	GALE	2582	HP:0002013	Vomiting
OMIM:230350	GALE	2582	HP:0001263	Global developmental delay
OMIM:230350	GALE	2582	HP:0001252	Muscular hypotonia
OMIM:230350	GALE	2582	HP:0000407	Sensorineural hearing impairment
OMIM:230350	GALE	2582	HP:0000007	Autosomal recessive inheritance
OMIM:230350	GALE	2582	HP:0008872	Feeding difficulties in infancy
OMIM:616331	WNT5A	7474	HP:0000316	Hypertelorism
OMIM:616331	WNT5A	7474	HP:0000348	High forehead
OMIM:616331	WNT5A	7474	HP:0000463	Anteverted nares
OMIM:616331	WNT5A	7474	HP:0001537	Umbilical hernia
OMIM:616331	WNT5A	7474	HP:0000678	Dental crowding
OMIM:616331	WNT5A	7474	HP:0011304	Broad thumb
OMIM:616331	WNT5A	7474	HP:0000212	Gingival overgrowth
OMIM:616331	WNT5A	7474	HP:0002684	Thickened calvaria
OMIM:616331	WNT5A	7474	HP:0000347	Micrognathia
OMIM:616331	WNT5A	7474	HP:0002007	Frontal bossing
OMIM:616331	WNT5A	7474	HP:0000689	Dental malocclusion
OMIM:616331	WNT5A	7474	HP:0009882	Short distal phalanx of finger
OMIM:616331	WNT5A	7474	HP:0000256	Macrocephaly
OMIM:616331	WNT5A	7474	HP:0000219	Thin upper lip vermilion
OMIM:616331	WNT5A	7474	HP:0000343	Long philtrum
OMIM:616331	WNT5A	7474	HP:0030084	Clinodactyly
OMIM:616331	WNT5A	7474	HP:0003196	Short nose
OMIM:616331	WNT5A	7474	HP:0004322	Short stature
OMIM:616331	WNT5A	7474	HP:0000054	Micropenis
OMIM:616331	WNT5A	7474	HP:0000028	Cryptorchidism
OMIM:616331	WNT5A	7474	HP:0000407	Sensorineural hearing impairment
OMIM:616331	WNT5A	7474	HP:0000207	Triangular mouth
OMIM:616331	WNT5A	7474	HP:0000520	Proptosis
OMIM:616331	WNT5A	7474	HP:0011001	Increased bone mineral density
OMIM:616331	WNT5A	7474	HP:0001156	Brachydactyly syndrome
OMIM:616331	WNT5A	7474	HP:0011800	Hypoplasia of midface
OMIM:616331	WNT5A	7474	HP:0000405	Conductive hearing impairment
OMIM:616331	DVL1	1855	HP:0000316	Hypertelorism
OMIM:616331	DVL1	1855	HP:0000348	High forehead
OMIM:616331	DVL1	1855	HP:0000463	Anteverted nares
OMIM:616331	DVL1	1855	HP:0001537	Umbilical hernia
OMIM:616331	DVL1	1855	HP:0000678	Dental crowding
OMIM:616331	DVL1	1855	HP:0011304	Broad thumb
OMIM:616331	DVL1	1855	HP:0000212	Gingival overgrowth
OMIM:616331	DVL1	1855	HP:0002684	Thickened calvaria
OMIM:616331	DVL1	1855	HP:0000347	Micrognathia
OMIM:616331	DVL1	1855	HP:0002007	Frontal bossing
OMIM:616331	DVL1	1855	HP:0000689	Dental malocclusion
OMIM:616331	DVL1	1855	HP:0009882	Short distal phalanx of finger
OMIM:616331	DVL1	1855	HP:0000256	Macrocephaly
OMIM:616331	DVL1	1855	HP:0000219	Thin upper lip vermilion
OMIM:616331	DVL1	1855	HP:0000343	Long philtrum
OMIM:616331	DVL1	1855	HP:0030084	Clinodactyly
OMIM:616331	DVL1	1855	HP:0003196	Short nose
OMIM:616331	DVL1	1855	HP:0004322	Short stature
OMIM:616331	DVL1	1855	HP:0000054	Micropenis
OMIM:616331	DVL1	1855	HP:0000028	Cryptorchidism
OMIM:616331	DVL1	1855	HP:0000407	Sensorineural hearing impairment
OMIM:616331	DVL1	1855	HP:0000207	Triangular mouth
OMIM:616331	DVL1	1855	HP:0000520	Proptosis
OMIM:616331	DVL1	1855	HP:0011001	Increased bone mineral density
OMIM:616331	DVL1	1855	HP:0001156	Brachydactyly syndrome
OMIM:616331	DVL1	1855	HP:0011800	Hypoplasia of midface
OMIM:616331	DVL1	1855	HP:0000405	Conductive hearing impairment
OMIM:218300	SOST	50964	HP:0001249	Intellectual disability
OMIM:218300	SOST	50964	HP:0000007	Autosomal recessive inheritance
OMIM:278800	ERCC6	2074	HP:0000509	Conjunctivitis
OMIM:278800	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:278800	ERCC6	2074	HP:0001249	Intellectual disability
OMIM:278800	ERCC6	2074	HP:0001266	Choreoathetosis
OMIM:278800	ERCC6	2074	HP:0001272	Cerebellar atrophy
OMIM:278800	ERCC6	2074	HP:0001009	Telangiectasia
OMIM:278800	ERCC6	2074	HP:0000491	Keratitis
OMIM:278800	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:278800	ERCC6	2074	HP:0001284	Areflexia
OMIM:278800	ERCC6	2074	HP:0003510	Severe short stature
OMIM:278800	ERCC6	2074	HP:0004334	Dermal atrophy
OMIM:278800	ERCC6	2074	HP:0000252	Microcephaly
OMIM:278800	ERCC6	2074	HP:0000407	Sensorineural hearing impairment
OMIM:278800	ERCC6	2074	HP:0000613	Photophobia
OMIM:278800	ERCC6	2074	HP:0001257	Spasticity
OMIM:278800	ERCC6	2074	HP:0001251	Ataxia
OMIM:278800	ERCC6	2074	HP:0001268	Mental deterioration
OMIM:278800	ERCC6	2074	HP:0001265	Hyporeflexia
OMIM:222900	SI	6476	HP:0000007	Autosomal recessive inheritance
OMIM:222900	SI	6476	HP:0000787	Nephrolithiasis
OMIM:222900	SI	6476	HP:0002024	Malabsorption
OMIM:222900	SI	6476	HP:0002014	Diarrhea
OMIM:222900	SI	6476	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:609942	RIT1	6016	HP:0003196	Short nose
OMIM:609942	RIT1	6016	HP:0001263	Global developmental delay
OMIM:609942	RIT1	6016	HP:0002007	Frontal bossing
OMIM:609942	RIT1	6016	HP:0000463	Anteverted nares
OMIM:609942	RIT1	6016	HP:0004442	Sagittal craniosynostosis
OMIM:609942	RIT1	6016	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	RIT1	6016	HP:0001629	Ventricular septal defect
OMIM:609942	RIT1	6016	HP:0001642	Pulmonic stenosis
OMIM:609942	RIT1	6016	HP:0004322	Short stature
OMIM:609942	RIT1	6016	HP:0000006	Autosomal dominant inheritance
OMIM:609942	RIT1	6016	HP:0000465	Webbed neck
OMIM:609942	RIT1	6016	HP:0000369	Low-set ears
OMIM:609942	RIT1	6016	HP:0011995	Atrial septal aneurysm
OMIM:609942	RIT1	6016	HP:0000316	Hypertelorism
OMIM:609942	BRAF	673	HP:0003196	Short nose
OMIM:609942	BRAF	673	HP:0001263	Global developmental delay
OMIM:609942	BRAF	673	HP:0002007	Frontal bossing
OMIM:609942	BRAF	673	HP:0000463	Anteverted nares
OMIM:609942	BRAF	673	HP:0004442	Sagittal craniosynostosis
OMIM:609942	BRAF	673	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	BRAF	673	HP:0001629	Ventricular septal defect
OMIM:609942	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:609942	BRAF	673	HP:0004322	Short stature
OMIM:609942	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:609942	BRAF	673	HP:0000465	Webbed neck
OMIM:609942	BRAF	673	HP:0000369	Low-set ears
OMIM:609942	BRAF	673	HP:0011995	Atrial septal aneurysm
OMIM:609942	BRAF	673	HP:0000316	Hypertelorism
OMIM:609942	KAT6B	23522	HP:0003196	Short nose
OMIM:609942	KAT6B	23522	HP:0001263	Global developmental delay
OMIM:609942	KAT6B	23522	HP:0002007	Frontal bossing
OMIM:609942	KAT6B	23522	HP:0000463	Anteverted nares
OMIM:609942	KAT6B	23522	HP:0004442	Sagittal craniosynostosis
OMIM:609942	KAT6B	23522	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	KAT6B	23522	HP:0001629	Ventricular septal defect
OMIM:609942	KAT6B	23522	HP:0001642	Pulmonic stenosis
OMIM:609942	KAT6B	23522	HP:0004322	Short stature
OMIM:609942	KAT6B	23522	HP:0000006	Autosomal dominant inheritance
OMIM:609942	KAT6B	23522	HP:0000465	Webbed neck
OMIM:609942	KAT6B	23522	HP:0000369	Low-set ears
OMIM:609942	KAT6B	23522	HP:0011995	Atrial septal aneurysm
OMIM:609942	KAT6B	23522	HP:0000316	Hypertelorism
OMIM:609942	RASA2	5922	HP:0003196	Short nose
OMIM:609942	RASA2	5922	HP:0001263	Global developmental delay
OMIM:609942	RASA2	5922	HP:0002007	Frontal bossing
OMIM:609942	RASA2	5922	HP:0000463	Anteverted nares
OMIM:609942	RASA2	5922	HP:0004442	Sagittal craniosynostosis
OMIM:609942	RASA2	5922	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	RASA2	5922	HP:0001629	Ventricular septal defect
OMIM:609942	RASA2	5922	HP:0001642	Pulmonic stenosis
OMIM:609942	RASA2	5922	HP:0004322	Short stature
OMIM:609942	RASA2	5922	HP:0000006	Autosomal dominant inheritance
OMIM:609942	RASA2	5922	HP:0000465	Webbed neck
OMIM:609942	RASA2	5922	HP:0000369	Low-set ears
OMIM:609942	RASA2	5922	HP:0011995	Atrial septal aneurysm
OMIM:609942	RASA2	5922	HP:0000316	Hypertelorism
OMIM:609942	KRAS	3845	HP:0003196	Short nose
OMIM:609942	KRAS	3845	HP:0001263	Global developmental delay
OMIM:609942	KRAS	3845	HP:0002007	Frontal bossing
OMIM:609942	KRAS	3845	HP:0000463	Anteverted nares
OMIM:609942	KRAS	3845	HP:0004442	Sagittal craniosynostosis
OMIM:609942	KRAS	3845	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	KRAS	3845	HP:0001629	Ventricular septal defect
OMIM:609942	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:609942	KRAS	3845	HP:0004322	Short stature
OMIM:609942	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:609942	KRAS	3845	HP:0000465	Webbed neck
OMIM:609942	KRAS	3845	HP:0000369	Low-set ears
OMIM:609942	KRAS	3845	HP:0011995	Atrial septal aneurysm
OMIM:609942	KRAS	3845	HP:0000316	Hypertelorism
OMIM:609942	PTPN11	5781	HP:0003196	Short nose
OMIM:609942	PTPN11	5781	HP:0001263	Global developmental delay
OMIM:609942	PTPN11	5781	HP:0002007	Frontal bossing
OMIM:609942	PTPN11	5781	HP:0000463	Anteverted nares
OMIM:609942	PTPN11	5781	HP:0004442	Sagittal craniosynostosis
OMIM:609942	PTPN11	5781	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	PTPN11	5781	HP:0001629	Ventricular septal defect
OMIM:609942	PTPN11	5781	HP:0001642	Pulmonic stenosis
OMIM:609942	PTPN11	5781	HP:0004322	Short stature
OMIM:609942	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:609942	PTPN11	5781	HP:0000465	Webbed neck
OMIM:609942	PTPN11	5781	HP:0000369	Low-set ears
OMIM:609942	PTPN11	5781	HP:0011995	Atrial septal aneurysm
OMIM:609942	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:609942	RAF1	5894	HP:0003196	Short nose
OMIM:609942	RAF1	5894	HP:0001263	Global developmental delay
OMIM:609942	RAF1	5894	HP:0002007	Frontal bossing
OMIM:609942	RAF1	5894	HP:0000463	Anteverted nares
OMIM:609942	RAF1	5894	HP:0004442	Sagittal craniosynostosis
OMIM:609942	RAF1	5894	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	RAF1	5894	HP:0001629	Ventricular septal defect
OMIM:609942	RAF1	5894	HP:0001642	Pulmonic stenosis
OMIM:609942	RAF1	5894	HP:0004322	Short stature
OMIM:609942	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:609942	RAF1	5894	HP:0000465	Webbed neck
OMIM:609942	RAF1	5894	HP:0000369	Low-set ears
OMIM:609942	RAF1	5894	HP:0011995	Atrial septal aneurysm
OMIM:609942	RAF1	5894	HP:0000316	Hypertelorism
OMIM:609942	LZTR1	8216	HP:0003196	Short nose
OMIM:609942	LZTR1	8216	HP:0001263	Global developmental delay
OMIM:609942	LZTR1	8216	HP:0002007	Frontal bossing
OMIM:609942	LZTR1	8216	HP:0000463	Anteverted nares
OMIM:609942	LZTR1	8216	HP:0004442	Sagittal craniosynostosis
OMIM:609942	LZTR1	8216	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	LZTR1	8216	HP:0001629	Ventricular septal defect
OMIM:609942	LZTR1	8216	HP:0001642	Pulmonic stenosis
OMIM:609942	LZTR1	8216	HP:0004322	Short stature
OMIM:609942	LZTR1	8216	HP:0000006	Autosomal dominant inheritance
OMIM:609942	LZTR1	8216	HP:0000465	Webbed neck
OMIM:609942	LZTR1	8216	HP:0000369	Low-set ears
OMIM:609942	LZTR1	8216	HP:0011995	Atrial septal aneurysm
OMIM:609942	LZTR1	8216	HP:0000316	Hypertelorism
OMIM:609942	A2ML1	144568	HP:0003196	Short nose
OMIM:609942	A2ML1	144568	HP:0001263	Global developmental delay
OMIM:609942	A2ML1	144568	HP:0002007	Frontal bossing
OMIM:609942	A2ML1	144568	HP:0000463	Anteverted nares
OMIM:609942	A2ML1	144568	HP:0004442	Sagittal craniosynostosis
OMIM:609942	A2ML1	144568	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	A2ML1	144568	HP:0001629	Ventricular septal defect
OMIM:609942	A2ML1	144568	HP:0001642	Pulmonic stenosis
OMIM:609942	A2ML1	144568	HP:0004322	Short stature
OMIM:609942	A2ML1	144568	HP:0000006	Autosomal dominant inheritance
OMIM:609942	A2ML1	144568	HP:0000465	Webbed neck
OMIM:609942	A2ML1	144568	HP:0000369	Low-set ears
OMIM:609942	A2ML1	144568	HP:0011995	Atrial septal aneurysm
OMIM:609942	A2ML1	144568	HP:0000316	Hypertelorism
OMIM:609942	NRAS	4893	HP:0003196	Short nose
OMIM:609942	NRAS	4893	HP:0001263	Global developmental delay
OMIM:609942	NRAS	4893	HP:0002007	Frontal bossing
OMIM:609942	NRAS	4893	HP:0000463	Anteverted nares
OMIM:609942	NRAS	4893	HP:0004442	Sagittal craniosynostosis
OMIM:609942	NRAS	4893	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	NRAS	4893	HP:0001629	Ventricular septal defect
OMIM:609942	NRAS	4893	HP:0001642	Pulmonic stenosis
OMIM:609942	NRAS	4893	HP:0004322	Short stature
OMIM:609942	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:609942	NRAS	4893	HP:0000465	Webbed neck
OMIM:609942	NRAS	4893	HP:0000369	Low-set ears
OMIM:609942	NRAS	4893	HP:0011995	Atrial septal aneurysm
OMIM:609942	NRAS	4893	HP:0000316	Hypertelorism
OMIM:609942	SOS1	6654	HP:0003196	Short nose
OMIM:609942	SOS1	6654	HP:0001263	Global developmental delay
OMIM:609942	SOS1	6654	HP:0002007	Frontal bossing
OMIM:609942	SOS1	6654	HP:0000463	Anteverted nares
OMIM:609942	SOS1	6654	HP:0004442	Sagittal craniosynostosis
OMIM:609942	SOS1	6654	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	SOS1	6654	HP:0001629	Ventricular septal defect
OMIM:609942	SOS1	6654	HP:0001642	Pulmonic stenosis
OMIM:609942	SOS1	6654	HP:0004322	Short stature
OMIM:609942	SOS1	6654	HP:0000006	Autosomal dominant inheritance
OMIM:609942	SOS1	6654	HP:0000465	Webbed neck
OMIM:609942	SOS1	6654	HP:0000369	Low-set ears
OMIM:609942	SOS1	6654	HP:0011995	Atrial septal aneurysm
OMIM:609942	SOS1	6654	HP:0000316	Hypertelorism
OMIM:609942	SOS2	6655	HP:0003196	Short nose
OMIM:609942	SOS2	6655	HP:0001263	Global developmental delay
OMIM:609942	SOS2	6655	HP:0002007	Frontal bossing
OMIM:609942	SOS2	6655	HP:0000463	Anteverted nares
OMIM:609942	SOS2	6655	HP:0004442	Sagittal craniosynostosis
OMIM:609942	SOS2	6655	HP:0012209	Juvenile myelomonocytic leukemia
OMIM:609942	SOS2	6655	HP:0001629	Ventricular septal defect
OMIM:609942	SOS2	6655	HP:0001642	Pulmonic stenosis
OMIM:609942	SOS2	6655	HP:0004322	Short stature
OMIM:609942	SOS2	6655	HP:0000006	Autosomal dominant inheritance
OMIM:609942	SOS2	6655	HP:0000465	Webbed neck
OMIM:609942	SOS2	6655	HP:0000369	Low-set ears
OMIM:609942	SOS2	6655	HP:0011995	Atrial septal aneurysm
OMIM:609942	SOS2	6655	HP:0000316	Hypertelorism
OMIM:609115	HNRNPDL	9987	HP:0003547	Shoulder girdle muscle weakness
OMIM:609115	HNRNPDL	9987	HP:0003749	Pelvic girdle muscle weakness
OMIM:609115	HNRNPDL	9987	HP:0000518	Cataract
OMIM:609115	HNRNPDL	9987	HP:0003677	Slow progression
OMIM:609115	HNRNPDL	9987	HP:0003198	Myopathy
OMIM:609115	HNRNPDL	9987	HP:0003805	Rimmed vacuoles
OMIM:609115	HNRNPDL	9987	HP:0000006	Autosomal dominant inheritance
OMIM:609115	HNRNPDL	9987	HP:0006785	Limb-girdle muscular dystrophy
OMIM:609115	HNRNPDL	9987	HP:0003236	Elevated serum creatine phosphokinase
OMIM:609115	HNRNPDL	9987	HP:0003581	Adult onset
OMIM:608583	GATA4	2626	HP:0001727	Thromboembolic stroke
OMIM:608583	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:608583	GATA4	2626	HP:0005110	Atrial fibrillation
OMIM:608583	GATA6	2627	HP:0001727	Thromboembolic stroke
OMIM:608583	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:608583	GATA6	2627	HP:0005110	Atrial fibrillation
OMIM:608583	KCNE2	9992	HP:0001727	Thromboembolic stroke
OMIM:608583	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:608583	KCNE2	9992	HP:0005110	Atrial fibrillation
OMIM:608583	KCNQ1	3784	HP:0001727	Thromboembolic stroke
OMIM:608583	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:608583	KCNQ1	3784	HP:0005110	Atrial fibrillation
OMIM:608583	KCNE1	3753	HP:0001727	Thromboembolic stroke
OMIM:608583	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:608583	KCNE1	3753	HP:0005110	Atrial fibrillation
OMIM:608583	NKX2-5	1482	HP:0001727	Thromboembolic stroke
OMIM:608583	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:608583	NKX2-5	1482	HP:0005110	Atrial fibrillation
OMIM:608583	ABCC9	10060	HP:0001727	Thromboembolic stroke
OMIM:608583	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:608583	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:608583	GJA5	2702	HP:0001727	Thromboembolic stroke
OMIM:608583	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:608583	GJA5	2702	HP:0005110	Atrial fibrillation
OMIM:608583	NPPA	4878	HP:0001727	Thromboembolic stroke
OMIM:608583	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:608583	NPPA	4878	HP:0005110	Atrial fibrillation
OMIM:608583	KCNJ2	3759	HP:0001727	Thromboembolic stroke
OMIM:608583	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:608583	KCNJ2	3759	HP:0005110	Atrial fibrillation
OMIM:608583	NKX2-6	137814	HP:0001727	Thromboembolic stroke
OMIM:608583	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:608583	NKX2-6	137814	HP:0005110	Atrial fibrillation
OMIM:608583	GATA5	140628	HP:0001727	Thromboembolic stroke
OMIM:608583	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:608583	GATA5	140628	HP:0005110	Atrial fibrillation
OMIM:608583	SCN2B	6327	HP:0001727	Thromboembolic stroke
OMIM:608583	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:608583	SCN2B	6327	HP:0005110	Atrial fibrillation
OMIM:608583	SCN3B	55800	HP:0001727	Thromboembolic stroke
OMIM:608583	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:608583	SCN3B	55800	HP:0005110	Atrial fibrillation
OMIM:608583	SCN4B	6330	HP:0001727	Thromboembolic stroke
OMIM:608583	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:608583	SCN4B	6330	HP:0005110	Atrial fibrillation
OMIM:608583	SCN5A	6331	HP:0001727	Thromboembolic stroke
OMIM:608583	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:608583	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:608583	PITX2	5308	HP:0001727	Thromboembolic stroke
OMIM:608583	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:608583	PITX2	5308	HP:0005110	Atrial fibrillation
OMIM:608583	KCNA5	3741	HP:0001727	Thromboembolic stroke
OMIM:608583	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
OMIM:608583	KCNA5	3741	HP:0005110	Atrial fibrillation
OMIM:608583	NUP155	9631	HP:0001727	Thromboembolic stroke
OMIM:608583	NUP155	9631	HP:0000006	Autosomal dominant inheritance
OMIM:608583	NUP155	9631	HP:0005110	Atrial fibrillation
OMIM:615145	VSX2	338917	HP:0000612	Iris coloboma
OMIM:615145	VSX2	338917	HP:0000007	Autosomal recessive inheritance
OMIM:615145	VSX2	338917	HP:0000568	Microphthalmia
OMIM:615145	VSX2	338917	HP:0000505	Visual impairment
OMIM:615145	VSX2	338917	HP:0007663	Reduced visual acuity
OMIM:615145	VSX2	338917	HP:0000482	Microcornea
OMIM:615145	TENM3	55714	HP:0000612	Iris coloboma
OMIM:615145	TENM3	55714	HP:0000007	Autosomal recessive inheritance
OMIM:615145	TENM3	55714	HP:0000568	Microphthalmia
OMIM:615145	TENM3	55714	HP:0000505	Visual impairment
OMIM:615145	TENM3	55714	HP:0007663	Reduced visual acuity
OMIM:615145	TENM3	55714	HP:0000482	Microcornea
OMIM:615145	SHH	6469	HP:0000612	Iris coloboma
OMIM:615145	SHH	6469	HP:0000007	Autosomal recessive inheritance
OMIM:615145	SHH	6469	HP:0000568	Microphthalmia
OMIM:615145	SHH	6469	HP:0000505	Visual impairment
OMIM:615145	SHH	6469	HP:0007663	Reduced visual acuity
OMIM:615145	SHH	6469	HP:0000482	Microcornea
OMIM:615145	GDF3	9573	HP:0000612	Iris coloboma
OMIM:615145	GDF3	9573	HP:0000007	Autosomal recessive inheritance
OMIM:615145	GDF3	9573	HP:0000568	Microphthalmia
OMIM:615145	GDF3	9573	HP:0000505	Visual impairment
OMIM:615145	GDF3	9573	HP:0007663	Reduced visual acuity
OMIM:615145	GDF3	9573	HP:0000482	Microcornea
OMIM:615145	GDF6	392255	HP:0000612	Iris coloboma
OMIM:615145	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:615145	GDF6	392255	HP:0000568	Microphthalmia
OMIM:615145	GDF6	392255	HP:0000505	Visual impairment
OMIM:615145	GDF6	392255	HP:0007663	Reduced visual acuity
OMIM:615145	GDF6	392255	HP:0000482	Microcornea
OMIM:615145	ABCB6	10058	HP:0000612	Iris coloboma
OMIM:615145	ABCB6	10058	HP:0000007	Autosomal recessive inheritance
OMIM:615145	ABCB6	10058	HP:0000568	Microphthalmia
OMIM:615145	ABCB6	10058	HP:0000505	Visual impairment
OMIM:615145	ABCB6	10058	HP:0007663	Reduced visual acuity
OMIM:615145	ABCB6	10058	HP:0000482	Microcornea
OMIM:615145	STRA6	64220	HP:0000612	Iris coloboma
OMIM:615145	STRA6	64220	HP:0000007	Autosomal recessive inheritance
OMIM:615145	STRA6	64220	HP:0000568	Microphthalmia
OMIM:615145	STRA6	64220	HP:0000505	Visual impairment
OMIM:615145	STRA6	64220	HP:0007663	Reduced visual acuity
OMIM:615145	STRA6	64220	HP:0000482	Microcornea
OMIM:615145	RBP4	5950	HP:0000612	Iris coloboma
OMIM:615145	RBP4	5950	HP:0000007	Autosomal recessive inheritance
OMIM:615145	RBP4	5950	HP:0000568	Microphthalmia
OMIM:615145	RBP4	5950	HP:0000505	Visual impairment
OMIM:615145	RBP4	5950	HP:0007663	Reduced visual acuity
OMIM:615145	RBP4	5950	HP:0000482	Microcornea
OMIM:608612	ZMPSTE24	10269	HP:0001371	Flexion contracture
OMIM:608612	ZMPSTE24	10269	HP:0000007	Autosomal recessive inheritance
OMIM:608612	ZMPSTE24	10269	HP:0003074	Hyperglycemia
OMIM:608612	ZMPSTE24	10269	HP:0000855	Insulin resistance
OMIM:608612	ZMPSTE24	10269	HP:0000963	Thin skin
OMIM:608612	ZMPSTE24	10269	HP:0000270	Delayed cranial suture closure
OMIM:608612	ZMPSTE24	10269	HP:0000833	Glucose intolerance
OMIM:608612	ZMPSTE24	10269	HP:0009124	Abnormality of adipose tissue
OMIM:608612	ZMPSTE24	10269	HP:0011362	Abnormal hair quantity
OMIM:608612	ZMPSTE24	10269	HP:0000464	Abnormality of the neck
OMIM:608612	ZMPSTE24	10269	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:608612	ZMPSTE24	10269	HP:0000347	Micrognathia
OMIM:608612	ZMPSTE24	10269	HP:0000987	Atypical scarring of skin
OMIM:608612	ZMPSTE24	10269	HP:0003196	Short nose
OMIM:608612	ZMPSTE24	10269	HP:0002299	Brittle hair
OMIM:608612	ZMPSTE24	10269	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:608612	ZMPSTE24	10269	HP:0007495	Prematurely aged appearance
OMIM:608612	ZMPSTE24	10269	HP:0008070	Sparse hair
OMIM:608612	ZMPSTE24	10269	HP:0009803	Short phalanx of finger
OMIM:608612	ZMPSTE24	10269	HP:0003077	Hyperlipidemia
OMIM:608612	ZMPSTE24	10269	HP:0007400	Irregular hyperpigmentation
OMIM:608612	ZMPSTE24	10269	HP:0004334	Dermal atrophy
OMIM:608612	ZMPSTE24	10269	HP:0003119	Abnormality of lipid metabolism
OMIM:608612	ZMPSTE24	10269	HP:0001597	Abnormality of the nail
OMIM:608612	ZMPSTE24	10269	HP:0000160	Narrow mouth
OMIM:608612	ZMPSTE24	10269	HP:0000444	Convex nasal ridge
OMIM:608612	ZMPSTE24	10269	HP:0000520	Proptosis
OMIM:608612	ZMPSTE24	10269	HP:0002797	Osteolysis
OMIM:608612	ZMPSTE24	10269	HP:0000842	Hyperinsulinemia
OMIM:608612	ZMPSTE24	10269	HP:0000889	Abnormality of the clavicle
OMIM:608612	ZMPSTE24	10269	HP:0000164	Abnormality of the teeth
OMIM:608612	ZMPSTE24	10269	HP:0004322	Short stature
OMIM:608612	ZMPSTE24	10269	HP:0000078	Abnormality of the genital system
OMIM:608612	ZMPSTE24	10269	HP:0000678	Dental crowding
OMIM:608612	ZMPSTE24	10269	HP:0000894	Short clavicles
OMIM:608612	ZMPSTE24	10269	HP:0000934	Chondrocalcinosis
OMIM:608612	ZMPSTE24	10269	HP:0009882	Short distal phalanx of finger
OMIM:608612	ZMPSTE24	10269	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:616324	MUSK	4593	HP:0000508	Ptosis
OMIM:616324	MUSK	4593	HP:0001252	Muscular hypotonia
OMIM:616324	MUSK	4593	HP:0002093	Respiratory insufficiency
OMIM:616324	MUSK	4593	HP:0000467	Neck muscle weakness
OMIM:616324	MUSK	4593	HP:0010628	Facial palsy
OMIM:616324	MUSK	4593	HP:0011968	Feeding difficulties
OMIM:616324	MUSK	4593	HP:0000602	Ophthalmoplegia
OMIM:616324	CHRNB1	1140	HP:0000508	Ptosis
OMIM:616324	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:616324	CHRNB1	1140	HP:0002093	Respiratory insufficiency
OMIM:616324	CHRNB1	1140	HP:0000467	Neck muscle weakness
OMIM:616324	CHRNB1	1140	HP:0010628	Facial palsy
OMIM:616324	CHRNB1	1140	HP:0011968	Feeding difficulties
OMIM:616324	CHRNB1	1140	HP:0000602	Ophthalmoplegia
OMIM:616324	DOK7	285489	HP:0000508	Ptosis
OMIM:616324	DOK7	285489	HP:0001252	Muscular hypotonia
OMIM:616324	DOK7	285489	HP:0002093	Respiratory insufficiency
OMIM:616324	DOK7	285489	HP:0000467	Neck muscle weakness
OMIM:616324	DOK7	285489	HP:0010628	Facial palsy
OMIM:616324	DOK7	285489	HP:0011968	Feeding difficulties
OMIM:616324	DOK7	285489	HP:0000602	Ophthalmoplegia
OMIM:616324	LRP4	4038	HP:0000508	Ptosis
OMIM:616324	LRP4	4038	HP:0001252	Muscular hypotonia
OMIM:616324	LRP4	4038	HP:0002093	Respiratory insufficiency
OMIM:616324	LRP4	4038	HP:0000467	Neck muscle weakness
OMIM:616324	LRP4	4038	HP:0010628	Facial palsy
OMIM:616324	LRP4	4038	HP:0011968	Feeding difficulties
OMIM:616324	LRP4	4038	HP:0000602	Ophthalmoplegia
OMIM:616324	CHRND	1144	HP:0000508	Ptosis
OMIM:616324	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:616324	CHRND	1144	HP:0002093	Respiratory insufficiency
OMIM:616324	CHRND	1144	HP:0000467	Neck muscle weakness
OMIM:616324	CHRND	1144	HP:0010628	Facial palsy
OMIM:616324	CHRND	1144	HP:0011968	Feeding difficulties
OMIM:616324	CHRND	1144	HP:0000602	Ophthalmoplegia
OMIM:616324	CHRNE	1145	HP:0000508	Ptosis
OMIM:616324	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:616324	CHRNE	1145	HP:0002093	Respiratory insufficiency
OMIM:616324	CHRNE	1145	HP:0000467	Neck muscle weakness
OMIM:616324	CHRNE	1145	HP:0010628	Facial palsy
OMIM:616324	CHRNE	1145	HP:0011968	Feeding difficulties
OMIM:616324	CHRNE	1145	HP:0000602	Ophthalmoplegia
OMIM:616324	RAPSN	5913	HP:0000508	Ptosis
OMIM:616324	RAPSN	5913	HP:0001252	Muscular hypotonia
OMIM:616324	RAPSN	5913	HP:0002093	Respiratory insufficiency
OMIM:616324	RAPSN	5913	HP:0000467	Neck muscle weakness
OMIM:616324	RAPSN	5913	HP:0010628	Facial palsy
OMIM:616324	RAPSN	5913	HP:0011968	Feeding difficulties
OMIM:616324	RAPSN	5913	HP:0000602	Ophthalmoplegia
OMIM:616324	SCN4A	6329	HP:0000508	Ptosis
OMIM:616324	SCN4A	6329	HP:0001252	Muscular hypotonia
OMIM:616324	SCN4A	6329	HP:0002093	Respiratory insufficiency
OMIM:616324	SCN4A	6329	HP:0000467	Neck muscle weakness
OMIM:616324	SCN4A	6329	HP:0010628	Facial palsy
OMIM:616324	SCN4A	6329	HP:0011968	Feeding difficulties
OMIM:616324	SCN4A	6329	HP:0000602	Ophthalmoplegia
OMIM:616324	AGRN	375790	HP:0000508	Ptosis
OMIM:616324	AGRN	375790	HP:0001252	Muscular hypotonia
OMIM:616324	AGRN	375790	HP:0002093	Respiratory insufficiency
OMIM:616324	AGRN	375790	HP:0000467	Neck muscle weakness
OMIM:616324	AGRN	375790	HP:0010628	Facial palsy
OMIM:616324	AGRN	375790	HP:0011968	Feeding difficulties
OMIM:616324	AGRN	375790	HP:0000602	Ophthalmoplegia
OMIM:616324	CHRNA1	1134	HP:0000508	Ptosis
OMIM:616324	CHRNA1	1134	HP:0001252	Muscular hypotonia
OMIM:616324	CHRNA1	1134	HP:0002093	Respiratory insufficiency
OMIM:616324	CHRNA1	1134	HP:0000467	Neck muscle weakness
OMIM:616324	CHRNA1	1134	HP:0010628	Facial palsy
OMIM:616324	CHRNA1	1134	HP:0011968	Feeding difficulties
OMIM:616324	CHRNA1	1134	HP:0000602	Ophthalmoplegia
OMIM:162830	CSF3R	1441	HP:0000006	Autosomal dominant inheritance
OMIM:162830	CSF3R	1441	HP:0002863	Myelodysplasia
OMIM:162830	CSF3R	1441	HP:0002684	Thickened calvaria
OMIM:162830	CSF3R	1441	HP:0001433	Hepatosplenomegaly
OMIM:307200	ELF4	2000	HP:0000246	Sinusitis
OMIM:307200	ELF4	2000	HP:0001287	Meningitis
OMIM:307200	ELF4	2000	HP:0000824	Growth hormone deficiency
OMIM:307200	ELF4	2000	HP:0002014	Diarrhea
OMIM:307200	ELF4	2000	HP:0002090	Pneumonia
OMIM:307200	ELF4	2000	HP:0004322	Short stature
OMIM:307200	ELF4	2000	HP:0002743	Recurrent enteroviral infections
OMIM:307200	ELF4	2000	HP:0000010	Recurrent urinary tract infections
OMIM:307200	ELF4	2000	HP:0000509	Conjunctivitis
OMIM:307200	ELF4	2000	HP:0003139	Panhypogammaglobulinemia
OMIM:307200	ELF4	2000	HP:0002718	Recurrent bacterial infections
OMIM:307200	ELF4	2000	HP:0002750	Delayed skeletal maturation
OMIM:307200	ELF4	2000	HP:0001419	X-linked recessive inheritance
OMIM:307200	ELF4	2000	HP:0002383	Encephalitis
OMIM:307200	ELF4	2000	HP:0000365	Hearing impairment
OMIM:307200	BTK	695	HP:0000246	Sinusitis
OMIM:307200	BTK	695	HP:0001287	Meningitis
OMIM:307200	BTK	695	HP:0000824	Growth hormone deficiency
OMIM:307200	BTK	695	HP:0002014	Diarrhea
OMIM:307200	BTK	695	HP:0002090	Pneumonia
OMIM:307200	BTK	695	HP:0004322	Short stature
OMIM:307200	BTK	695	HP:0002743	Recurrent enteroviral infections
OMIM:307200	BTK	695	HP:0000010	Recurrent urinary tract infections
OMIM:307200	BTK	695	HP:0000509	Conjunctivitis
OMIM:307200	BTK	695	HP:0003139	Panhypogammaglobulinemia
OMIM:307200	BTK	695	HP:0002718	Recurrent bacterial infections
OMIM:307200	BTK	695	HP:0002750	Delayed skeletal maturation
OMIM:307200	BTK	695	HP:0001419	X-linked recessive inheritance
OMIM:307200	BTK	695	HP:0002383	Encephalitis
OMIM:307200	BTK	695	HP:0000365	Hearing impairment
OMIM:180105	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:180105	RLBP1	6017	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:180105	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:180105	RLBP1	6017	HP:0003593	Infantile onset
OMIM:180105	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:180105	SPATA7	55812	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:180105	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:180105	SPATA7	55812	HP:0003593	Infantile onset
OMIM:180105	ARL6	84100	HP:0000662	Nyctalopia
OMIM:180105	ARL6	84100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:180105	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:180105	ARL6	84100	HP:0003593	Infantile onset
OMIM:180105	CERKL	375298	HP:0000662	Nyctalopia
OMIM:180105	CERKL	375298	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:180105	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:180105	CERKL	375298	HP:0003593	Infantile onset
OMIM:180105	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:180105	PRPF31	26121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:180105	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:180105	PRPF31	26121	HP:0003593	Infantile onset
OMIM:180105	TTC8	123016	HP:0000662	Nyctalopia
OMIM:180105	TTC8	123016	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:180105	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:180105	TTC8	123016	HP:0003593	Infantile onset
OMIM:180105	PROM1	8842	HP:0000662	Nyctalopia
OMIM:180105	PROM1	8842	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:180105	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:180105	PROM1	8842	HP:0003593	Infantile onset
OMIM:180105	LRAT	9227	HP:0000662	Nyctalopia
OMIM:180105	LRAT	9227	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:180105	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:180105	LRAT	9227	HP:0003593	Infantile onset
OMIM:180105	IFT140	9742	HP:0000662	Nyctalopia
OMIM:180105	IFT140	9742	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:180105	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:180105	IFT140	9742	HP:0003593	Infantile onset
OMIM:180105	BEST1	7439	HP:0000662	Nyctalopia
OMIM:180105	BEST1	7439	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:180105	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:180105	BEST1	7439	HP:0003593	Infantile onset
OMIM:180105	NEK2	4751	HP:0000662	Nyctalopia
OMIM:180105	NEK2	4751	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:180105	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:180105	NEK2	4751	HP:0003593	Infantile onset
OMIM:180105	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:180105	ARL2BP	23568	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:180105	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:180105	ARL2BP	23568	HP:0003593	Infantile onset
OMIM:180105	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:180105	NR2E3	10002	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:180105	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:180105	NR2E3	10002	HP:0003593	Infantile onset
OMIM:180105	EYS	346007	HP:0000662	Nyctalopia
OMIM:180105	EYS	346007	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:180105	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:180105	EYS	346007	HP:0003593	Infantile onset
OMIM:180105	MAK	4117	HP:0000662	Nyctalopia
OMIM:180105	MAK	4117	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:180105	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:180105	MAK	4117	HP:0003593	Infantile onset
OMIM:180105	SAG	6295	HP:0000662	Nyctalopia
OMIM:180105	SAG	6295	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:180105	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:180105	SAG	6295	HP:0003593	Infantile onset
OMIM:180105	ABCA4	24	HP:0000662	Nyctalopia
OMIM:180105	ABCA4	24	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:180105	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:180105	ABCA4	24	HP:0003593	Infantile onset
OMIM:180105	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:180105	PDE6A	5145	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:180105	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:180105	PDE6A	5145	HP:0003593	Infantile onset
OMIM:180105	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:180105	PDE6G	5148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:180105	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:180105	PDE6G	5148	HP:0003593	Infantile onset
OMIM:180105	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:180105	IMPDH1	3614	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:180105	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:180105	IMPDH1	3614	HP:0003593	Infantile onset
OMIM:180105	OFD1	8481	HP:0000662	Nyctalopia
OMIM:180105	OFD1	8481	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:180105	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:180105	OFD1	8481	HP:0003593	Infantile onset
OMIM:180105	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:180105	GUCA1B	2979	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:180105	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:180105	GUCA1B	2979	HP:0003593	Infantile onset
OMIM:180105	NRL	4901	HP:0000662	Nyctalopia
OMIM:180105	NRL	4901	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:180105	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:180105	NRL	4901	HP:0003593	Infantile onset
OMIM:180105	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:180105	PDE6B	5158	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:180105	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:180105	PDE6B	5158	HP:0003593	Infantile onset
OMIM:180105	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:180105	KLHL7	55975	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:180105	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:180105	KLHL7	55975	HP:0003593	Infantile onset
OMIM:180105	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:180105	PRPF4	9128	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:180105	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:180105	PRPF4	9128	HP:0003593	Infantile onset
OMIM:180105	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:180105	PRPF3	9129	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:180105	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:180105	PRPF3	9129	HP:0003593	Infantile onset
OMIM:180105	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:180105	FAM161A	84140	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:180105	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:180105	FAM161A	84140	HP:0003593	Infantile onset
OMIM:180105	IFT172	26160	HP:0000662	Nyctalopia
OMIM:180105	IFT172	26160	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:180105	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:180105	IFT172	26160	HP:0003593	Infantile onset
OMIM:180105	KIZ	55857	HP:0000662	Nyctalopia
OMIM:180105	KIZ	55857	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:180105	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:180105	KIZ	55857	HP:0003593	Infantile onset
OMIM:180105	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:180105	CDHR1	92211	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:180105	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:180105	CDHR1	92211	HP:0003593	Infantile onset
OMIM:180105	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:180105	ZNF408	79797	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:180105	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:180105	ZNF408	79797	HP:0003593	Infantile onset
OMIM:180105	RBP3	5949	HP:0000662	Nyctalopia
OMIM:180105	RBP3	5949	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:180105	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:180105	RBP3	5949	HP:0003593	Infantile onset
OMIM:180105	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:180105	HGSNAT	138050	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:180105	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:180105	HGSNAT	138050	HP:0003593	Infantile onset
OMIM:180105	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:180105	FSCN2	25794	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:180105	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:180105	FSCN2	25794	HP:0003593	Infantile onset
OMIM:180105	PRCD	768206	HP:0000662	Nyctalopia
OMIM:180105	PRCD	768206	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:180105	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:180105	PRCD	768206	HP:0003593	Infantile onset
OMIM:180105	BBS2	583	HP:0000662	Nyctalopia
OMIM:180105	BBS2	583	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:180105	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:180105	BBS2	583	HP:0003593	Infantile onset
OMIM:180105	RDH12	145226	HP:0000662	Nyctalopia
OMIM:180105	RDH12	145226	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:180105	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:180105	RDH12	145226	HP:0003593	Infantile onset
OMIM:180105	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:180105	PRPH2	5961	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:180105	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:180105	PRPH2	5961	HP:0003593	Infantile onset
OMIM:180105	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:180105	DHDDS	79947	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:180105	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:180105	DHDDS	79947	HP:0003593	Infantile onset
OMIM:180105	ROM1	6094	HP:0000662	Nyctalopia
OMIM:180105	ROM1	6094	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:180105	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:180105	ROM1	6094	HP:0003593	Infantile onset
OMIM:180105	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:180105	C2ORF71	388939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:180105	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:180105	C2ORF71	388939	HP:0003593	Infantile onset
OMIM:180105	RP9	6100	HP:0000662	Nyctalopia
OMIM:180105	RP9	6100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:180105	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:180105	RP9	6100	HP:0003593	Infantile onset
OMIM:180105	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:180105	PRPF6	24148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:180105	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:180105	PRPF6	24148	HP:0003593	Infantile onset
OMIM:180105	RP1	6101	HP:0000662	Nyctalopia
OMIM:180105	RP1	6101	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:180105	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:180105	RP1	6101	HP:0003593	Infantile onset
OMIM:180105	RP2	6102	HP:0000662	Nyctalopia
OMIM:180105	RP2	6102	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:180105	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:180105	RP2	6102	HP:0003593	Infantile onset
OMIM:180105	RPGR	6103	HP:0000662	Nyctalopia
OMIM:180105	RPGR	6103	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:180105	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:180105	RPGR	6103	HP:0003593	Infantile onset
OMIM:180105	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:180105	SEMA4A	64218	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:180105	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:180105	SEMA4A	64218	HP:0003593	Infantile onset
OMIM:180105	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:180105	C8ORF37	157657	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:180105	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:180105	C8ORF37	157657	HP:0003593	Infantile onset
OMIM:180105	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:180105	IDH3B	3420	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:180105	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:180105	IDH3B	3420	HP:0003593	Infantile onset
OMIM:180105	MERTK	10461	HP:0000662	Nyctalopia
OMIM:180105	MERTK	10461	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:180105	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:180105	MERTK	10461	HP:0003593	Infantile onset
OMIM:180105	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:180105	PRPF8	10594	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:180105	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:180105	PRPF8	10594	HP:0003593	Infantile onset
OMIM:180105	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:180105	TOPORS	10210	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:180105	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:180105	TOPORS	10210	HP:0003593	Infantile onset
OMIM:180105	USH2A	7399	HP:0000662	Nyctalopia
OMIM:180105	USH2A	7399	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:180105	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:180105	USH2A	7399	HP:0003593	Infantile onset
OMIM:180105	RPE65	6121	HP:0000662	Nyctalopia
OMIM:180105	RPE65	6121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:180105	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:180105	RPE65	6121	HP:0003593	Infantile onset
OMIM:180105	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:180105	CLRN1	7401	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:180105	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:180105	CLRN1	7401	HP:0003593	Infantile onset
OMIM:180105	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:180105	CNGB1	1258	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:180105	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:180105	CNGB1	1258	HP:0003593	Infantile onset
OMIM:180105	RGR	5995	HP:0000662	Nyctalopia
OMIM:180105	RGR	5995	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:180105	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:180105	RGR	5995	HP:0003593	Infantile onset
OMIM:180105	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:180105	CNGA1	1259	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:180105	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:180105	CNGA1	1259	HP:0003593	Infantile onset
OMIM:180105	TUB	7275	HP:0000662	Nyctalopia
OMIM:180105	TUB	7275	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:180105	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:180105	TUB	7275	HP:0003593	Infantile onset
OMIM:180105	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:180105	SNRNP200	23020	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:180105	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:180105	SNRNP200	23020	HP:0003593	Infantile onset
OMIM:180105	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:180105	SLC7A14	57709	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:180105	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:180105	SLC7A14	57709	HP:0003593	Infantile onset
OMIM:180105	TULP1	7287	HP:0000662	Nyctalopia
OMIM:180105	TULP1	7287	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:180105	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:180105	TULP1	7287	HP:0003593	Infantile onset
OMIM:180105	RHO	6010	HP:0000662	Nyctalopia
OMIM:180105	RHO	6010	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:180105	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:180105	RHO	6010	HP:0003593	Infantile onset
OMIM:180105	CA4	762	HP:0000662	Nyctalopia
OMIM:180105	CA4	762	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:180105	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:180105	CA4	762	HP:0003593	Infantile onset
OMIM:180105	CRB1	23418	HP:0000662	Nyctalopia
OMIM:180105	CRB1	23418	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:180105	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:180105	CRB1	23418	HP:0003593	Infantile onset
OMIM:180105	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:180105	IMPG2	50939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:180105	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:180105	IMPG2	50939	HP:0003593	Infantile onset
OMIM:180105	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:180105	ZNF513	130557	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:180105	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:180105	ZNF513	130557	HP:0003593	Infantile onset
OMIM:180105	CRX	1406	HP:0000662	Nyctalopia
OMIM:180105	CRX	1406	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:180105	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:180105	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:180105	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:180105	CRX	1406	HP:0003593	Infantile onset
OMIM:606966	NPHP4	261734	HP:0003774	Stage 5 chronic kidney disease
OMIM:606966	NPHP4	261734	HP:0001903	Anemia
OMIM:606966	NPHP4	261734	HP:0000007	Autosomal recessive inheritance
OMIM:606966	NPHP4	261734	HP:0000090	Nephronophthisis
OMIM:606966	NPHP4	261734	HP:0001510	Growth delay
OMIM:612989	TMEM126A	84233	HP:0001639	Hypertrophic cardiomyopathy
OMIM:612989	TMEM126A	84233	HP:0000486	Strabismus
OMIM:612989	TMEM126A	84233	HP:0001133	Constriction of peripheral visual field
OMIM:612989	TMEM126A	84233	HP:0007663	Reduced visual acuity
OMIM:612989	TMEM126A	84233	HP:0000543	Optic disc pallor
OMIM:612989	TMEM126A	84233	HP:0000007	Autosomal recessive inheritance
OMIM:612989	TMEM126A	84233	HP:0000505	Visual impairment
OMIM:612989	TMEM126A	84233	HP:0000648	Optic atrophy
OMIM:612989	TMEM126A	84233	HP:0000603	Central scotoma
OMIM:612989	TMEM126A	84233	HP:0007641	Dyschromatopsia
OMIM:228980	PLA2G5	5322	HP:0000007	Autosomal recessive inheritance
OMIM:228980	PLA2G5	5322	HP:0012045	Retinal flecks
OMIM:310465	POLA1	5422	HP:0000365	Hearing impairment
OMIM:310465	POLA1	5422	HP:0000028	Cryptorchidism
OMIM:310465	POLA1	5422	HP:0000047	Hypospadias
OMIM:310465	POLA1	5422	HP:0003220	Abnormality of chromosome stability
OMIM:310465	POLA1	5422	HP:0002488	Acute leukemia
OMIM:310465	POLA1	5422	HP:0001257	Spasticity
OMIM:310465	POLA1	5422	HP:0000485	Megalocornea
OMIM:310465	POLA1	5422	HP:0000407	Sensorineural hearing impairment
OMIM:310465	POLA1	5422	HP:0000505	Visual impairment
OMIM:310465	POLA1	5422	HP:0002664	Neoplasm
OMIM:310465	POLA1	5422	HP:0100627	Displacement of the external urethral meatus
OMIM:310465	POLA1	5422	HP:0001276	Hypertonia
OMIM:310465	POLA1	5422	HP:0001249	Intellectual disability
OMIM:310465	POLA1	5422	HP:0100543	Cognitive impairment
OMIM:310465	POLA1	5422	HP:0001417	X-linked inheritance
OMIM:142945	SHH	6469	HP:0000126	Hydronephrosis
OMIM:142945	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:142945	SHH	6469	HP:0009914	Cyclopia
OMIM:142945	SHH	6469	HP:0000366	Abnormality of the nose
OMIM:142945	SHH	6469	HP:0001360	Holoprosencephaly
OMIM:142945	SHH	6469	HP:0003829	Incomplete penetrance
OMIM:142945	SHH	6469	HP:0000601	Hypotelorism
OMIM:142945	SHH	6469	HP:0011800	Hypoplasia of midface
OMIM:142945	SHH	6469	HP:0000272	Malar flattening
OMIM:229100	FTCD	10841	HP:0001889	Megaloblastic anemia
OMIM:229100	FTCD	10841	HP:0000007	Autosomal recessive inheritance
OMIM:229100	FTCD	10841	HP:0001510	Growth delay
OMIM:229100	FTCD	10841	HP:0004821	Hypersegmentation of neutrophil nuclei
OMIM:229100	FTCD	10841	HP:0003355	Aminoaciduria
OMIM:229100	FTCD	10841	HP:0001249	Intellectual disability
OMIM:229100	FTCD	10841	HP:0003612	Positive ferric chloride test
OMIM:614872	PEX19	5824	HP:0001522	Death in infancy
OMIM:614872	PEX19	5824	HP:0002240	Hepatomegaly
OMIM:614872	PEX19	5824	HP:0011968	Feeding difficulties
OMIM:614872	PEX19	5824	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX19	5824	HP:0001250	Seizures
OMIM:614872	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX16	9409	HP:0001522	Death in infancy
OMIM:614872	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:614872	PEX16	9409	HP:0011968	Feeding difficulties
OMIM:614872	PEX16	9409	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX16	9409	HP:0001250	Seizures
OMIM:614872	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX2	5828	HP:0001522	Death in infancy
OMIM:614872	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:614872	PEX2	5828	HP:0011968	Feeding difficulties
OMIM:614872	PEX2	5828	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX2	5828	HP:0001250	Seizures
OMIM:614872	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX1	5189	HP:0001522	Death in infancy
OMIM:614872	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:614872	PEX1	5189	HP:0011968	Feeding difficulties
OMIM:614872	PEX1	5189	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX1	5189	HP:0001250	Seizures
OMIM:614872	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX5	5830	HP:0001522	Death in infancy
OMIM:614872	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:614872	PEX5	5830	HP:0011968	Feeding difficulties
OMIM:614872	PEX5	5830	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX5	5830	HP:0001250	Seizures
OMIM:614872	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX6	5190	HP:0001522	Death in infancy
OMIM:614872	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:614872	PEX6	5190	HP:0011968	Feeding difficulties
OMIM:614872	PEX6	5190	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX6	5190	HP:0001250	Seizures
OMIM:614872	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX10	5192	HP:0001522	Death in infancy
OMIM:614872	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:614872	PEX10	5192	HP:0011968	Feeding difficulties
OMIM:614872	PEX10	5192	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX10	5192	HP:0001250	Seizures
OMIM:614872	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX12	5193	HP:0001522	Death in infancy
OMIM:614872	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:614872	PEX12	5193	HP:0011968	Feeding difficulties
OMIM:614872	PEX12	5193	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX12	5193	HP:0001250	Seizures
OMIM:614872	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX13	5194	HP:0001522	Death in infancy
OMIM:614872	PEX13	5194	HP:0002240	Hepatomegaly
OMIM:614872	PEX13	5194	HP:0011968	Feeding difficulties
OMIM:614872	PEX13	5194	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX13	5194	HP:0001250	Seizures
OMIM:614872	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX14	5195	HP:0001522	Death in infancy
OMIM:614872	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:614872	PEX14	5195	HP:0011968	Feeding difficulties
OMIM:614872	PEX14	5195	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX14	5195	HP:0001250	Seizures
OMIM:614872	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX26	55670	HP:0001522	Death in infancy
OMIM:614872	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:614872	PEX26	55670	HP:0011968	Feeding difficulties
OMIM:614872	PEX26	55670	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX26	55670	HP:0001250	Seizures
OMIM:614872	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX3	8504	HP:0001522	Death in infancy
OMIM:614872	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:614872	PEX3	8504	HP:0011968	Feeding difficulties
OMIM:614872	PEX3	8504	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX3	8504	HP:0001250	Seizures
OMIM:614872	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614872	PEX11B	8799	HP:0001522	Death in infancy
OMIM:614872	PEX11B	8799	HP:0002240	Hepatomegaly
OMIM:614872	PEX11B	8799	HP:0011968	Feeding difficulties
OMIM:614872	PEX11B	8799	HP:0010655	Epiphyseal stippling
OMIM:614872	PEX11B	8799	HP:0001250	Seizures
OMIM:614872	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
ORPHANET:3095	FOXG1	2290	HP:0000478	Abnormality of the eye
ORPHANET:3095	FOXG1	2290	HP:0000733	Stereotypic behavior
ORPHANET:3095	FOXG1	2290	HP:0002270	Abnormality of the autonomic nervous system
ORPHANET:3095	FOXG1	2290	HP:0002353	EEG abnormality
ORPHANET:3095	FOXG1	2290	HP:0001513	Obesity
ORPHANET:3095	FOXG1	2290	HP:0000717	Autism
ORPHANET:3095	FOXG1	2290	HP:0001831	Short toe
ORPHANET:3095	FOXG1	2290	HP:0002311	Incoordination
ORPHANET:3095	FOXG1	2290	HP:0004349	Reduced bone mineral density
ORPHANET:3095	FOXG1	2290	HP:0000252	Microcephaly
ORPHANET:3095	FOXG1	2290	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:3095	FOXG1	2290	HP:0002213	Fine hair
ORPHANET:3095	FOXG1	2290	HP:0001288	Gait disturbance
ORPHANET:3095	FOXG1	2290	HP:0002793	Abnormal pattern of respiration
ORPHANET:3095	FOXG1	2290	HP:0001063	Acrocyanosis
ORPHANET:3095	FOXG1	2290	HP:0001156	Brachydactyly syndrome
ORPHANET:3095	FOXG1	2290	HP:0001252	Muscular hypotonia
ORPHANET:3095	FOXG1	2290	HP:0100543	Cognitive impairment
ORPHANET:3095	FOXG1	2290	HP:0002360	Sleep disturbance
ORPHANET:3095	FOXG1	2290	HP:0001276	Hypertonia
ORPHANET:3095	FOXG1	2290	HP:0001824	Weight loss
ORPHANET:3095	FOXG1	2290	HP:0011675	Arrhythmia
ORPHANET:3095	FOXG1	2290	HP:0001250	Seizures
ORPHANET:3095	FOXG1	2290	HP:0002650	Scoliosis
ORPHANET:3095	FOXG1	2290	HP:0002167	Neurological speech impairment
ORPHANET:3095	FOXG1	2290	HP:0002376	Developmental regression
ORPHANET:3095	NTNG1	22854	HP:0000478	Abnormality of the eye
ORPHANET:3095	NTNG1	22854	HP:0000733	Stereotypic behavior
ORPHANET:3095	NTNG1	22854	HP:0002270	Abnormality of the autonomic nervous system
ORPHANET:3095	NTNG1	22854	HP:0002353	EEG abnormality
ORPHANET:3095	NTNG1	22854	HP:0001513	Obesity
ORPHANET:3095	NTNG1	22854	HP:0000717	Autism
ORPHANET:3095	NTNG1	22854	HP:0001831	Short toe
ORPHANET:3095	NTNG1	22854	HP:0002311	Incoordination
ORPHANET:3095	NTNG1	22854	HP:0004349	Reduced bone mineral density
ORPHANET:3095	NTNG1	22854	HP:0000252	Microcephaly
ORPHANET:3095	NTNG1	22854	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:3095	NTNG1	22854	HP:0002213	Fine hair
ORPHANET:3095	NTNG1	22854	HP:0001288	Gait disturbance
ORPHANET:3095	NTNG1	22854	HP:0002793	Abnormal pattern of respiration
ORPHANET:3095	NTNG1	22854	HP:0001063	Acrocyanosis
ORPHANET:3095	NTNG1	22854	HP:0001156	Brachydactyly syndrome
ORPHANET:3095	NTNG1	22854	HP:0001252	Muscular hypotonia
ORPHANET:3095	NTNG1	22854	HP:0100543	Cognitive impairment
ORPHANET:3095	NTNG1	22854	HP:0002360	Sleep disturbance
ORPHANET:3095	NTNG1	22854	HP:0001276	Hypertonia
ORPHANET:3095	NTNG1	22854	HP:0001824	Weight loss
ORPHANET:3095	NTNG1	22854	HP:0011675	Arrhythmia
ORPHANET:3095	NTNG1	22854	HP:0001250	Seizures
ORPHANET:3095	NTNG1	22854	HP:0002650	Scoliosis
ORPHANET:3095	NTNG1	22854	HP:0002167	Neurological speech impairment
ORPHANET:3095	NTNG1	22854	HP:0002376	Developmental regression
ORPHANET:3095	CDKL5	6792	HP:0000478	Abnormality of the eye
ORPHANET:3095	CDKL5	6792	HP:0000733	Stereotypic behavior
ORPHANET:3095	CDKL5	6792	HP:0002270	Abnormality of the autonomic nervous system
ORPHANET:3095	CDKL5	6792	HP:0002353	EEG abnormality
ORPHANET:3095	CDKL5	6792	HP:0001513	Obesity
ORPHANET:3095	CDKL5	6792	HP:0000717	Autism
ORPHANET:3095	CDKL5	6792	HP:0001831	Short toe
ORPHANET:3095	CDKL5	6792	HP:0002311	Incoordination
ORPHANET:3095	CDKL5	6792	HP:0004349	Reduced bone mineral density
ORPHANET:3095	CDKL5	6792	HP:0000252	Microcephaly
ORPHANET:3095	CDKL5	6792	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:3095	CDKL5	6792	HP:0002213	Fine hair
ORPHANET:3095	CDKL5	6792	HP:0001288	Gait disturbance
ORPHANET:3095	CDKL5	6792	HP:0002793	Abnormal pattern of respiration
ORPHANET:3095	CDKL5	6792	HP:0001063	Acrocyanosis
ORPHANET:3095	CDKL5	6792	HP:0001156	Brachydactyly syndrome
ORPHANET:3095	CDKL5	6792	HP:0001252	Muscular hypotonia
ORPHANET:3095	CDKL5	6792	HP:0100543	Cognitive impairment
ORPHANET:3095	CDKL5	6792	HP:0002360	Sleep disturbance
ORPHANET:3095	CDKL5	6792	HP:0001276	Hypertonia
ORPHANET:3095	CDKL5	6792	HP:0001824	Weight loss
ORPHANET:3095	CDKL5	6792	HP:0011675	Arrhythmia
ORPHANET:3095	CDKL5	6792	HP:0001250	Seizures
ORPHANET:3095	CDKL5	6792	HP:0002650	Scoliosis
ORPHANET:3095	CDKL5	6792	HP:0002167	Neurological speech impairment
ORPHANET:3095	CDKL5	6792	HP:0002376	Developmental regression
ORPHANET:3095	MECP2	4204	HP:0000478	Abnormality of the eye
ORPHANET:3095	MECP2	4204	HP:0000733	Stereotypic behavior
ORPHANET:3095	MECP2	4204	HP:0002270	Abnormality of the autonomic nervous system
ORPHANET:3095	MECP2	4204	HP:0002353	EEG abnormality
ORPHANET:3095	MECP2	4204	HP:0001513	Obesity
ORPHANET:3095	MECP2	4204	HP:0000717	Autism
ORPHANET:3095	MECP2	4204	HP:0001831	Short toe
ORPHANET:3095	MECP2	4204	HP:0002311	Incoordination
ORPHANET:3095	MECP2	4204	HP:0004349	Reduced bone mineral density
ORPHANET:3095	MECP2	4204	HP:0000252	Microcephaly
ORPHANET:3095	MECP2	4204	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:3095	MECP2	4204	HP:0002213	Fine hair
ORPHANET:3095	MECP2	4204	HP:0001288	Gait disturbance
ORPHANET:3095	MECP2	4204	HP:0002793	Abnormal pattern of respiration
ORPHANET:3095	MECP2	4204	HP:0001063	Acrocyanosis
ORPHANET:3095	MECP2	4204	HP:0001156	Brachydactyly syndrome
ORPHANET:3095	MECP2	4204	HP:0001252	Muscular hypotonia
ORPHANET:3095	MECP2	4204	HP:0100543	Cognitive impairment
ORPHANET:3095	MECP2	4204	HP:0002360	Sleep disturbance
ORPHANET:3095	MECP2	4204	HP:0001276	Hypertonia
ORPHANET:3095	MECP2	4204	HP:0001824	Weight loss
ORPHANET:3095	MECP2	4204	HP:0011675	Arrhythmia
ORPHANET:3095	MECP2	4204	HP:0001250	Seizures
ORPHANET:3095	MECP2	4204	HP:0002650	Scoliosis
ORPHANET:3095	MECP2	4204	HP:0002167	Neurological speech impairment
ORPHANET:3095	MECP2	4204	HP:0002376	Developmental regression
OMIM:614424	CEP41	95681	HP:0000358	Posteriorly rotated ears
OMIM:614424	CEP41	95681	HP:0001251	Ataxia
OMIM:614424	CEP41	95681	HP:0000286	Epicanthus
OMIM:614424	CEP41	95681	HP:0000589	Coloboma
OMIM:614424	CEP41	95681	HP:0000194	Open mouth
OMIM:614424	CEP41	95681	HP:0000490	Deeply set eye
OMIM:614424	CEP41	95681	HP:0000822	Hypertension
OMIM:614424	CEP41	95681	HP:0002553	Highly arched eyebrow
OMIM:614424	CEP41	95681	HP:0000494	Downslanted palpebral fissures
OMIM:614424	CEP41	95681	HP:0010804	Tented upper lip vermilion
OMIM:614424	CEP41	95681	HP:0010864	Intellectual disability, severe
OMIM:614424	CEP41	95681	HP:0001252	Muscular hypotonia
OMIM:614424	CEP41	95681	HP:0000007	Autosomal recessive inheritance
OMIM:614424	CEP41	95681	HP:0000486	Strabismus
OMIM:614424	CEP41	95681	HP:0000369	Low-set ears
OMIM:614424	CEP41	95681	HP:0000639	Nystagmus
OMIM:614424	CEP41	95681	HP:0000568	Microphthalmia
OMIM:614424	CEP41	95681	HP:0001510	Growth delay
OMIM:614424	CEP41	95681	HP:0000272	Malar flattening
OMIM:614424	CEP41	95681	HP:0000107	Renal cyst
OMIM:614424	CEP41	95681	HP:0000508	Ptosis
OMIM:614424	CEP41	95681	HP:0000737	Irritability
OMIM:614424	CEP41	95681	HP:0001305	Dandy-Walker malformation
OMIM:614424	CEP41	95681	HP:0000426	Prominent nasal bridge
OMIM:614424	CEP41	95681	HP:0100259	Postaxial polydactyly
OMIM:614424	CEP41	95681	HP:0000238	Hydrocephalus
OMIM:614424	CEP41	95681	HP:0000322	Short philtrum
OMIM:614424	CEP41	95681	HP:0000316	Hypertelorism
OMIM:614424	CEP41	95681	HP:0002084	Encephalocele
OMIM:614424	C5ORF42	65250	HP:0000358	Posteriorly rotated ears
OMIM:614424	C5ORF42	65250	HP:0001251	Ataxia
OMIM:614424	C5ORF42	65250	HP:0000286	Epicanthus
OMIM:614424	C5ORF42	65250	HP:0000589	Coloboma
OMIM:614424	C5ORF42	65250	HP:0000194	Open mouth
OMIM:614424	C5ORF42	65250	HP:0000490	Deeply set eye
OMIM:614424	C5ORF42	65250	HP:0000822	Hypertension
OMIM:614424	C5ORF42	65250	HP:0002553	Highly arched eyebrow
OMIM:614424	C5ORF42	65250	HP:0000494	Downslanted palpebral fissures
OMIM:614424	C5ORF42	65250	HP:0010804	Tented upper lip vermilion
OMIM:614424	C5ORF42	65250	HP:0010864	Intellectual disability, severe
OMIM:614424	C5ORF42	65250	HP:0001252	Muscular hypotonia
OMIM:614424	C5ORF42	65250	HP:0000007	Autosomal recessive inheritance
OMIM:614424	C5ORF42	65250	HP:0000486	Strabismus
OMIM:614424	C5ORF42	65250	HP:0000369	Low-set ears
OMIM:614424	C5ORF42	65250	HP:0000639	Nystagmus
OMIM:614424	C5ORF42	65250	HP:0000568	Microphthalmia
OMIM:614424	C5ORF42	65250	HP:0001510	Growth delay
OMIM:614424	C5ORF42	65250	HP:0000272	Malar flattening
OMIM:614424	C5ORF42	65250	HP:0000107	Renal cyst
OMIM:614424	C5ORF42	65250	HP:0000508	Ptosis
OMIM:614424	C5ORF42	65250	HP:0000737	Irritability
OMIM:614424	C5ORF42	65250	HP:0001305	Dandy-Walker malformation
OMIM:614424	C5ORF42	65250	HP:0000426	Prominent nasal bridge
OMIM:614424	C5ORF42	65250	HP:0100259	Postaxial polydactyly
OMIM:614424	C5ORF42	65250	HP:0000238	Hydrocephalus
OMIM:614424	C5ORF42	65250	HP:0000322	Short philtrum
OMIM:614424	C5ORF42	65250	HP:0000316	Hypertelorism
OMIM:614424	C5ORF42	65250	HP:0002084	Encephalocele
OMIM:614424	NPHP1	4867	HP:0000358	Posteriorly rotated ears
OMIM:614424	NPHP1	4867	HP:0001251	Ataxia
OMIM:614424	NPHP1	4867	HP:0000286	Epicanthus
OMIM:614424	NPHP1	4867	HP:0000589	Coloboma
OMIM:614424	NPHP1	4867	HP:0000194	Open mouth
OMIM:614424	NPHP1	4867	HP:0000490	Deeply set eye
OMIM:614424	NPHP1	4867	HP:0000822	Hypertension
OMIM:614424	NPHP1	4867	HP:0002553	Highly arched eyebrow
OMIM:614424	NPHP1	4867	HP:0000494	Downslanted palpebral fissures
OMIM:614424	NPHP1	4867	HP:0010804	Tented upper lip vermilion
OMIM:614424	NPHP1	4867	HP:0010864	Intellectual disability, severe
OMIM:614424	NPHP1	4867	HP:0001252	Muscular hypotonia
OMIM:614424	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:614424	NPHP1	4867	HP:0000486	Strabismus
OMIM:614424	NPHP1	4867	HP:0000369	Low-set ears
OMIM:614424	NPHP1	4867	HP:0000639	Nystagmus
OMIM:614424	NPHP1	4867	HP:0000568	Microphthalmia
OMIM:614424	NPHP1	4867	HP:0001510	Growth delay
OMIM:614424	NPHP1	4867	HP:0000272	Malar flattening
OMIM:614424	NPHP1	4867	HP:0000107	Renal cyst
OMIM:614424	NPHP1	4867	HP:0000508	Ptosis
OMIM:614424	NPHP1	4867	HP:0000737	Irritability
OMIM:614424	NPHP1	4867	HP:0001305	Dandy-Walker malformation
OMIM:614424	NPHP1	4867	HP:0000426	Prominent nasal bridge
OMIM:614424	NPHP1	4867	HP:0100259	Postaxial polydactyly
OMIM:614424	NPHP1	4867	HP:0000238	Hydrocephalus
OMIM:614424	NPHP1	4867	HP:0000322	Short philtrum
OMIM:614424	NPHP1	4867	HP:0000316	Hypertelorism
OMIM:614424	NPHP1	4867	HP:0002084	Encephalocele
OMIM:614424	TMEM138	51524	HP:0000358	Posteriorly rotated ears
OMIM:614424	TMEM138	51524	HP:0001251	Ataxia
OMIM:614424	TMEM138	51524	HP:0000286	Epicanthus
OMIM:614424	TMEM138	51524	HP:0000589	Coloboma
OMIM:614424	TMEM138	51524	HP:0000194	Open mouth
OMIM:614424	TMEM138	51524	HP:0000490	Deeply set eye
OMIM:614424	TMEM138	51524	HP:0000822	Hypertension
OMIM:614424	TMEM138	51524	HP:0002553	Highly arched eyebrow
OMIM:614424	TMEM138	51524	HP:0000494	Downslanted palpebral fissures
OMIM:614424	TMEM138	51524	HP:0010804	Tented upper lip vermilion
OMIM:614424	TMEM138	51524	HP:0010864	Intellectual disability, severe
OMIM:614424	TMEM138	51524	HP:0001252	Muscular hypotonia
OMIM:614424	TMEM138	51524	HP:0000007	Autosomal recessive inheritance
OMIM:614424	TMEM138	51524	HP:0000486	Strabismus
OMIM:614424	TMEM138	51524	HP:0000369	Low-set ears
OMIM:614424	TMEM138	51524	HP:0000639	Nystagmus
OMIM:614424	TMEM138	51524	HP:0000568	Microphthalmia
OMIM:614424	TMEM138	51524	HP:0001510	Growth delay
OMIM:614424	TMEM138	51524	HP:0000272	Malar flattening
OMIM:614424	TMEM138	51524	HP:0000107	Renal cyst
OMIM:614424	TMEM138	51524	HP:0000508	Ptosis
OMIM:614424	TMEM138	51524	HP:0000737	Irritability
OMIM:614424	TMEM138	51524	HP:0001305	Dandy-Walker malformation
OMIM:614424	TMEM138	51524	HP:0000426	Prominent nasal bridge
OMIM:614424	TMEM138	51524	HP:0100259	Postaxial polydactyly
OMIM:614424	TMEM138	51524	HP:0000238	Hydrocephalus
OMIM:614424	TMEM138	51524	HP:0000322	Short philtrum
OMIM:614424	TMEM138	51524	HP:0000316	Hypertelorism
OMIM:614424	TMEM138	51524	HP:0002084	Encephalocele
OMIM:614424	B9D1	27077	HP:0000358	Posteriorly rotated ears
OMIM:614424	B9D1	27077	HP:0001251	Ataxia
OMIM:614424	B9D1	27077	HP:0000286	Epicanthus
OMIM:614424	B9D1	27077	HP:0000589	Coloboma
OMIM:614424	B9D1	27077	HP:0000194	Open mouth
OMIM:614424	B9D1	27077	HP:0000490	Deeply set eye
OMIM:614424	B9D1	27077	HP:0000822	Hypertension
OMIM:614424	B9D1	27077	HP:0002553	Highly arched eyebrow
OMIM:614424	B9D1	27077	HP:0000494	Downslanted palpebral fissures
OMIM:614424	B9D1	27077	HP:0010804	Tented upper lip vermilion
OMIM:614424	B9D1	27077	HP:0010864	Intellectual disability, severe
OMIM:614424	B9D1	27077	HP:0001252	Muscular hypotonia
OMIM:614424	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:614424	B9D1	27077	HP:0000486	Strabismus
OMIM:614424	B9D1	27077	HP:0000369	Low-set ears
OMIM:614424	B9D1	27077	HP:0000639	Nystagmus
OMIM:614424	B9D1	27077	HP:0000568	Microphthalmia
OMIM:614424	B9D1	27077	HP:0001510	Growth delay
OMIM:614424	B9D1	27077	HP:0000272	Malar flattening
OMIM:614424	B9D1	27077	HP:0000107	Renal cyst
OMIM:614424	B9D1	27077	HP:0000508	Ptosis
OMIM:614424	B9D1	27077	HP:0000737	Irritability
OMIM:614424	B9D1	27077	HP:0001305	Dandy-Walker malformation
OMIM:614424	B9D1	27077	HP:0000426	Prominent nasal bridge
OMIM:614424	B9D1	27077	HP:0100259	Postaxial polydactyly
OMIM:614424	B9D1	27077	HP:0000238	Hydrocephalus
OMIM:614424	B9D1	27077	HP:0000322	Short philtrum
OMIM:614424	B9D1	27077	HP:0000316	Hypertelorism
OMIM:614424	B9D1	27077	HP:0002084	Encephalocele
OMIM:614424	TMEM237	65062	HP:0000358	Posteriorly rotated ears
OMIM:614424	TMEM237	65062	HP:0001251	Ataxia
OMIM:614424	TMEM237	65062	HP:0000286	Epicanthus
OMIM:614424	TMEM237	65062	HP:0000589	Coloboma
OMIM:614424	TMEM237	65062	HP:0000194	Open mouth
OMIM:614424	TMEM237	65062	HP:0000490	Deeply set eye
OMIM:614424	TMEM237	65062	HP:0000822	Hypertension
OMIM:614424	TMEM237	65062	HP:0002553	Highly arched eyebrow
OMIM:614424	TMEM237	65062	HP:0000494	Downslanted palpebral fissures
OMIM:614424	TMEM237	65062	HP:0010804	Tented upper lip vermilion
OMIM:614424	TMEM237	65062	HP:0010864	Intellectual disability, severe
OMIM:614424	TMEM237	65062	HP:0001252	Muscular hypotonia
OMIM:614424	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:614424	TMEM237	65062	HP:0000486	Strabismus
OMIM:614424	TMEM237	65062	HP:0000369	Low-set ears
OMIM:614424	TMEM237	65062	HP:0000639	Nystagmus
OMIM:614424	TMEM237	65062	HP:0000568	Microphthalmia
OMIM:614424	TMEM237	65062	HP:0001510	Growth delay
OMIM:614424	TMEM237	65062	HP:0000272	Malar flattening
OMIM:614424	TMEM237	65062	HP:0000107	Renal cyst
OMIM:614424	TMEM237	65062	HP:0000508	Ptosis
OMIM:614424	TMEM237	65062	HP:0000737	Irritability
OMIM:614424	TMEM237	65062	HP:0001305	Dandy-Walker malformation
OMIM:614424	TMEM237	65062	HP:0000426	Prominent nasal bridge
OMIM:614424	TMEM237	65062	HP:0100259	Postaxial polydactyly
OMIM:614424	TMEM237	65062	HP:0000238	Hydrocephalus
OMIM:614424	TMEM237	65062	HP:0000322	Short philtrum
OMIM:614424	TMEM237	65062	HP:0000316	Hypertelorism
OMIM:614424	TMEM237	65062	HP:0002084	Encephalocele
OMIM:614424	CC2D2A	57545	HP:0000358	Posteriorly rotated ears
OMIM:614424	CC2D2A	57545	HP:0001251	Ataxia
OMIM:614424	CC2D2A	57545	HP:0000286	Epicanthus
OMIM:614424	CC2D2A	57545	HP:0000589	Coloboma
OMIM:614424	CC2D2A	57545	HP:0000194	Open mouth
OMIM:614424	CC2D2A	57545	HP:0000490	Deeply set eye
OMIM:614424	CC2D2A	57545	HP:0000822	Hypertension
OMIM:614424	CC2D2A	57545	HP:0002553	Highly arched eyebrow
OMIM:614424	CC2D2A	57545	HP:0000494	Downslanted palpebral fissures
OMIM:614424	CC2D2A	57545	HP:0010804	Tented upper lip vermilion
OMIM:614424	CC2D2A	57545	HP:0010864	Intellectual disability, severe
OMIM:614424	CC2D2A	57545	HP:0001252	Muscular hypotonia
OMIM:614424	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:614424	CC2D2A	57545	HP:0000486	Strabismus
OMIM:614424	CC2D2A	57545	HP:0000369	Low-set ears
OMIM:614424	CC2D2A	57545	HP:0000639	Nystagmus
OMIM:614424	CC2D2A	57545	HP:0000568	Microphthalmia
OMIM:614424	CC2D2A	57545	HP:0001510	Growth delay
OMIM:614424	CC2D2A	57545	HP:0000272	Malar flattening
OMIM:614424	CC2D2A	57545	HP:0000107	Renal cyst
OMIM:614424	CC2D2A	57545	HP:0000508	Ptosis
OMIM:614424	CC2D2A	57545	HP:0000737	Irritability
OMIM:614424	CC2D2A	57545	HP:0001305	Dandy-Walker malformation
OMIM:614424	CC2D2A	57545	HP:0000426	Prominent nasal bridge
OMIM:614424	CC2D2A	57545	HP:0100259	Postaxial polydactyly
OMIM:614424	CC2D2A	57545	HP:0000238	Hydrocephalus
OMIM:614424	CC2D2A	57545	HP:0000322	Short philtrum
OMIM:614424	CC2D2A	57545	HP:0000316	Hypertelorism
OMIM:614424	CC2D2A	57545	HP:0002084	Encephalocele
OMIM:614424	CSPP1	79848	HP:0000358	Posteriorly rotated ears
OMIM:614424	CSPP1	79848	HP:0001251	Ataxia
OMIM:614424	CSPP1	79848	HP:0000286	Epicanthus
OMIM:614424	CSPP1	79848	HP:0000589	Coloboma
OMIM:614424	CSPP1	79848	HP:0000194	Open mouth
OMIM:614424	CSPP1	79848	HP:0000490	Deeply set eye
OMIM:614424	CSPP1	79848	HP:0000822	Hypertension
OMIM:614424	CSPP1	79848	HP:0002553	Highly arched eyebrow
OMIM:614424	CSPP1	79848	HP:0000494	Downslanted palpebral fissures
OMIM:614424	CSPP1	79848	HP:0010804	Tented upper lip vermilion
OMIM:614424	CSPP1	79848	HP:0010864	Intellectual disability, severe
OMIM:614424	CSPP1	79848	HP:0001252	Muscular hypotonia
OMIM:614424	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:614424	CSPP1	79848	HP:0000486	Strabismus
OMIM:614424	CSPP1	79848	HP:0000369	Low-set ears
OMIM:614424	CSPP1	79848	HP:0000639	Nystagmus
OMIM:614424	CSPP1	79848	HP:0000568	Microphthalmia
OMIM:614424	CSPP1	79848	HP:0001510	Growth delay
OMIM:614424	CSPP1	79848	HP:0000272	Malar flattening
OMIM:614424	CSPP1	79848	HP:0000107	Renal cyst
OMIM:614424	CSPP1	79848	HP:0000508	Ptosis
OMIM:614424	CSPP1	79848	HP:0000737	Irritability
OMIM:614424	CSPP1	79848	HP:0001305	Dandy-Walker malformation
OMIM:614424	CSPP1	79848	HP:0000426	Prominent nasal bridge
OMIM:614424	CSPP1	79848	HP:0100259	Postaxial polydactyly
OMIM:614424	CSPP1	79848	HP:0000238	Hydrocephalus
OMIM:614424	CSPP1	79848	HP:0000322	Short philtrum
OMIM:614424	CSPP1	79848	HP:0000316	Hypertelorism
OMIM:614424	CSPP1	79848	HP:0002084	Encephalocele
OMIM:614424	TMEM67	91147	HP:0000358	Posteriorly rotated ears
OMIM:614424	TMEM67	91147	HP:0001251	Ataxia
OMIM:614424	TMEM67	91147	HP:0000286	Epicanthus
OMIM:614424	TMEM67	91147	HP:0000589	Coloboma
OMIM:614424	TMEM67	91147	HP:0000194	Open mouth
OMIM:614424	TMEM67	91147	HP:0000490	Deeply set eye
OMIM:614424	TMEM67	91147	HP:0000822	Hypertension
OMIM:614424	TMEM67	91147	HP:0002553	Highly arched eyebrow
OMIM:614424	TMEM67	91147	HP:0000494	Downslanted palpebral fissures
OMIM:614424	TMEM67	91147	HP:0010804	Tented upper lip vermilion
OMIM:614424	TMEM67	91147	HP:0010864	Intellectual disability, severe
OMIM:614424	TMEM67	91147	HP:0001252	Muscular hypotonia
OMIM:614424	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:614424	TMEM67	91147	HP:0000486	Strabismus
OMIM:614424	TMEM67	91147	HP:0000369	Low-set ears
OMIM:614424	TMEM67	91147	HP:0000639	Nystagmus
OMIM:614424	TMEM67	91147	HP:0000568	Microphthalmia
OMIM:614424	TMEM67	91147	HP:0001510	Growth delay
OMIM:614424	TMEM67	91147	HP:0000272	Malar flattening
OMIM:614424	TMEM67	91147	HP:0000107	Renal cyst
OMIM:614424	TMEM67	91147	HP:0000508	Ptosis
OMIM:614424	TMEM67	91147	HP:0000737	Irritability
OMIM:614424	TMEM67	91147	HP:0001305	Dandy-Walker malformation
OMIM:614424	TMEM67	91147	HP:0000426	Prominent nasal bridge
OMIM:614424	TMEM67	91147	HP:0100259	Postaxial polydactyly
OMIM:614424	TMEM67	91147	HP:0000238	Hydrocephalus
OMIM:614424	TMEM67	91147	HP:0000322	Short philtrum
OMIM:614424	TMEM67	91147	HP:0000316	Hypertelorism
OMIM:614424	TMEM67	91147	HP:0002084	Encephalocele
OMIM:614424	INPP5E	56623	HP:0000358	Posteriorly rotated ears
OMIM:614424	INPP5E	56623	HP:0001251	Ataxia
OMIM:614424	INPP5E	56623	HP:0000286	Epicanthus
OMIM:614424	INPP5E	56623	HP:0000589	Coloboma
OMIM:614424	INPP5E	56623	HP:0000194	Open mouth
OMIM:614424	INPP5E	56623	HP:0000490	Deeply set eye
OMIM:614424	INPP5E	56623	HP:0000822	Hypertension
OMIM:614424	INPP5E	56623	HP:0002553	Highly arched eyebrow
OMIM:614424	INPP5E	56623	HP:0000494	Downslanted palpebral fissures
OMIM:614424	INPP5E	56623	HP:0010804	Tented upper lip vermilion
OMIM:614424	INPP5E	56623	HP:0010864	Intellectual disability, severe
OMIM:614424	INPP5E	56623	HP:0001252	Muscular hypotonia
OMIM:614424	INPP5E	56623	HP:0000007	Autosomal recessive inheritance
OMIM:614424	INPP5E	56623	HP:0000486	Strabismus
OMIM:614424	INPP5E	56623	HP:0000369	Low-set ears
OMIM:614424	INPP5E	56623	HP:0000639	Nystagmus
OMIM:614424	INPP5E	56623	HP:0000568	Microphthalmia
OMIM:614424	INPP5E	56623	HP:0001510	Growth delay
OMIM:614424	INPP5E	56623	HP:0000272	Malar flattening
OMIM:614424	INPP5E	56623	HP:0000107	Renal cyst
OMIM:614424	INPP5E	56623	HP:0000508	Ptosis
OMIM:614424	INPP5E	56623	HP:0000737	Irritability
OMIM:614424	INPP5E	56623	HP:0001305	Dandy-Walker malformation
OMIM:614424	INPP5E	56623	HP:0000426	Prominent nasal bridge
OMIM:614424	INPP5E	56623	HP:0100259	Postaxial polydactyly
OMIM:614424	INPP5E	56623	HP:0000238	Hydrocephalus
OMIM:614424	INPP5E	56623	HP:0000322	Short philtrum
OMIM:614424	INPP5E	56623	HP:0000316	Hypertelorism
OMIM:614424	INPP5E	56623	HP:0002084	Encephalocele
OMIM:614424	TCTN1	79600	HP:0000358	Posteriorly rotated ears
OMIM:614424	TCTN1	79600	HP:0001251	Ataxia
OMIM:614424	TCTN1	79600	HP:0000286	Epicanthus
OMIM:614424	TCTN1	79600	HP:0000589	Coloboma
OMIM:614424	TCTN1	79600	HP:0000194	Open mouth
OMIM:614424	TCTN1	79600	HP:0000490	Deeply set eye
OMIM:614424	TCTN1	79600	HP:0000822	Hypertension
OMIM:614424	TCTN1	79600	HP:0002553	Highly arched eyebrow
OMIM:614424	TCTN1	79600	HP:0000494	Downslanted palpebral fissures
OMIM:614424	TCTN1	79600	HP:0010804	Tented upper lip vermilion
OMIM:614424	TCTN1	79600	HP:0010864	Intellectual disability, severe
OMIM:614424	TCTN1	79600	HP:0001252	Muscular hypotonia
OMIM:614424	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:614424	TCTN1	79600	HP:0000486	Strabismus
OMIM:614424	TCTN1	79600	HP:0000369	Low-set ears
OMIM:614424	TCTN1	79600	HP:0000639	Nystagmus
OMIM:614424	TCTN1	79600	HP:0000568	Microphthalmia
OMIM:614424	TCTN1	79600	HP:0001510	Growth delay
OMIM:614424	TCTN1	79600	HP:0000272	Malar flattening
OMIM:614424	TCTN1	79600	HP:0000107	Renal cyst
OMIM:614424	TCTN1	79600	HP:0000508	Ptosis
OMIM:614424	TCTN1	79600	HP:0000737	Irritability
OMIM:614424	TCTN1	79600	HP:0001305	Dandy-Walker malformation
OMIM:614424	TCTN1	79600	HP:0000426	Prominent nasal bridge
OMIM:614424	TCTN1	79600	HP:0100259	Postaxial polydactyly
OMIM:614424	TCTN1	79600	HP:0000238	Hydrocephalus
OMIM:614424	TCTN1	79600	HP:0000322	Short philtrum
OMIM:614424	TCTN1	79600	HP:0000316	Hypertelorism
OMIM:614424	TCTN1	79600	HP:0002084	Encephalocele
OMIM:614424	ZNF423	23090	HP:0000358	Posteriorly rotated ears
OMIM:614424	ZNF423	23090	HP:0001251	Ataxia
OMIM:614424	ZNF423	23090	HP:0000286	Epicanthus
OMIM:614424	ZNF423	23090	HP:0000589	Coloboma
OMIM:614424	ZNF423	23090	HP:0000194	Open mouth
OMIM:614424	ZNF423	23090	HP:0000490	Deeply set eye
OMIM:614424	ZNF423	23090	HP:0000822	Hypertension
OMIM:614424	ZNF423	23090	HP:0002553	Highly arched eyebrow
OMIM:614424	ZNF423	23090	HP:0000494	Downslanted palpebral fissures
OMIM:614424	ZNF423	23090	HP:0010804	Tented upper lip vermilion
OMIM:614424	ZNF423	23090	HP:0010864	Intellectual disability, severe
OMIM:614424	ZNF423	23090	HP:0001252	Muscular hypotonia
OMIM:614424	ZNF423	23090	HP:0000007	Autosomal recessive inheritance
OMIM:614424	ZNF423	23090	HP:0000486	Strabismus
OMIM:614424	ZNF423	23090	HP:0000369	Low-set ears
OMIM:614424	ZNF423	23090	HP:0000639	Nystagmus
OMIM:614424	ZNF423	23090	HP:0000568	Microphthalmia
OMIM:614424	ZNF423	23090	HP:0001510	Growth delay
OMIM:614424	ZNF423	23090	HP:0000272	Malar flattening
OMIM:614424	ZNF423	23090	HP:0000107	Renal cyst
OMIM:614424	ZNF423	23090	HP:0000508	Ptosis
OMIM:614424	ZNF423	23090	HP:0000737	Irritability
OMIM:614424	ZNF423	23090	HP:0001305	Dandy-Walker malformation
OMIM:614424	ZNF423	23090	HP:0000426	Prominent nasal bridge
OMIM:614424	ZNF423	23090	HP:0100259	Postaxial polydactyly
OMIM:614424	ZNF423	23090	HP:0000238	Hydrocephalus
OMIM:614424	ZNF423	23090	HP:0000322	Short philtrum
OMIM:614424	ZNF423	23090	HP:0000316	Hypertelorism
OMIM:614424	ZNF423	23090	HP:0002084	Encephalocele
OMIM:614424	AHI1	54806	HP:0000358	Posteriorly rotated ears
OMIM:614424	AHI1	54806	HP:0001251	Ataxia
OMIM:614424	AHI1	54806	HP:0000286	Epicanthus
OMIM:614424	AHI1	54806	HP:0000589	Coloboma
OMIM:614424	AHI1	54806	HP:0000194	Open mouth
OMIM:614424	AHI1	54806	HP:0000490	Deeply set eye
OMIM:614424	AHI1	54806	HP:0000822	Hypertension
OMIM:614424	AHI1	54806	HP:0002553	Highly arched eyebrow
OMIM:614424	AHI1	54806	HP:0000494	Downslanted palpebral fissures
OMIM:614424	AHI1	54806	HP:0010804	Tented upper lip vermilion
OMIM:614424	AHI1	54806	HP:0010864	Intellectual disability, severe
OMIM:614424	AHI1	54806	HP:0001252	Muscular hypotonia
OMIM:614424	AHI1	54806	HP:0000007	Autosomal recessive inheritance
OMIM:614424	AHI1	54806	HP:0000486	Strabismus
OMIM:614424	AHI1	54806	HP:0000369	Low-set ears
OMIM:614424	AHI1	54806	HP:0000639	Nystagmus
OMIM:614424	AHI1	54806	HP:0000568	Microphthalmia
OMIM:614424	AHI1	54806	HP:0001510	Growth delay
OMIM:614424	AHI1	54806	HP:0000272	Malar flattening
OMIM:614424	AHI1	54806	HP:0000107	Renal cyst
OMIM:614424	AHI1	54806	HP:0000508	Ptosis
OMIM:614424	AHI1	54806	HP:0000737	Irritability
OMIM:614424	AHI1	54806	HP:0001305	Dandy-Walker malformation
OMIM:614424	AHI1	54806	HP:0000426	Prominent nasal bridge
OMIM:614424	AHI1	54806	HP:0100259	Postaxial polydactyly
OMIM:614424	AHI1	54806	HP:0000238	Hydrocephalus
OMIM:614424	AHI1	54806	HP:0000322	Short philtrum
OMIM:614424	AHI1	54806	HP:0000316	Hypertelorism
OMIM:614424	AHI1	54806	HP:0002084	Encephalocele
OMIM:614424	MKS1	54903	HP:0000358	Posteriorly rotated ears
OMIM:614424	MKS1	54903	HP:0001251	Ataxia
OMIM:614424	MKS1	54903	HP:0000286	Epicanthus
OMIM:614424	MKS1	54903	HP:0000589	Coloboma
OMIM:614424	MKS1	54903	HP:0000194	Open mouth
OMIM:614424	MKS1	54903	HP:0000490	Deeply set eye
OMIM:614424	MKS1	54903	HP:0000822	Hypertension
OMIM:614424	MKS1	54903	HP:0002553	Highly arched eyebrow
OMIM:614424	MKS1	54903	HP:0000494	Downslanted palpebral fissures
OMIM:614424	MKS1	54903	HP:0010804	Tented upper lip vermilion
OMIM:614424	MKS1	54903	HP:0010864	Intellectual disability, severe
OMIM:614424	MKS1	54903	HP:0001252	Muscular hypotonia
OMIM:614424	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:614424	MKS1	54903	HP:0000486	Strabismus
OMIM:614424	MKS1	54903	HP:0000369	Low-set ears
OMIM:614424	MKS1	54903	HP:0000639	Nystagmus
OMIM:614424	MKS1	54903	HP:0000568	Microphthalmia
OMIM:614424	MKS1	54903	HP:0001510	Growth delay
OMIM:614424	MKS1	54903	HP:0000272	Malar flattening
OMIM:614424	MKS1	54903	HP:0000107	Renal cyst
OMIM:614424	MKS1	54903	HP:0000508	Ptosis
OMIM:614424	MKS1	54903	HP:0000737	Irritability
OMIM:614424	MKS1	54903	HP:0001305	Dandy-Walker malformation
OMIM:614424	MKS1	54903	HP:0000426	Prominent nasal bridge
OMIM:614424	MKS1	54903	HP:0100259	Postaxial polydactyly
OMIM:614424	MKS1	54903	HP:0000238	Hydrocephalus
OMIM:614424	MKS1	54903	HP:0000322	Short philtrum
OMIM:614424	MKS1	54903	HP:0000316	Hypertelorism
OMIM:614424	MKS1	54903	HP:0002084	Encephalocele
OMIM:614424	CEP290	80184	HP:0000358	Posteriorly rotated ears
OMIM:614424	CEP290	80184	HP:0001251	Ataxia
OMIM:614424	CEP290	80184	HP:0000286	Epicanthus
OMIM:614424	CEP290	80184	HP:0000589	Coloboma
OMIM:614424	CEP290	80184	HP:0000194	Open mouth
OMIM:614424	CEP290	80184	HP:0000490	Deeply set eye
OMIM:614424	CEP290	80184	HP:0000822	Hypertension
OMIM:614424	CEP290	80184	HP:0002553	Highly arched eyebrow
OMIM:614424	CEP290	80184	HP:0000494	Downslanted palpebral fissures
OMIM:614424	CEP290	80184	HP:0010804	Tented upper lip vermilion
OMIM:614424	CEP290	80184	HP:0010864	Intellectual disability, severe
OMIM:614424	CEP290	80184	HP:0001252	Muscular hypotonia
OMIM:614424	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:614424	CEP290	80184	HP:0000486	Strabismus
OMIM:614424	CEP290	80184	HP:0000369	Low-set ears
OMIM:614424	CEP290	80184	HP:0000639	Nystagmus
OMIM:614424	CEP290	80184	HP:0000568	Microphthalmia
OMIM:614424	CEP290	80184	HP:0001510	Growth delay
OMIM:614424	CEP290	80184	HP:0000272	Malar flattening
OMIM:614424	CEP290	80184	HP:0000107	Renal cyst
OMIM:614424	CEP290	80184	HP:0000508	Ptosis
OMIM:614424	CEP290	80184	HP:0000737	Irritability
OMIM:614424	CEP290	80184	HP:0001305	Dandy-Walker malformation
OMIM:614424	CEP290	80184	HP:0000426	Prominent nasal bridge
OMIM:614424	CEP290	80184	HP:0100259	Postaxial polydactyly
OMIM:614424	CEP290	80184	HP:0000238	Hydrocephalus
OMIM:614424	CEP290	80184	HP:0000322	Short philtrum
OMIM:614424	CEP290	80184	HP:0000316	Hypertelorism
OMIM:614424	CEP290	80184	HP:0002084	Encephalocele
OMIM:614424	TCTN2	79867	HP:0000358	Posteriorly rotated ears
OMIM:614424	TCTN2	79867	HP:0001251	Ataxia
OMIM:614424	TCTN2	79867	HP:0000286	Epicanthus
OMIM:614424	TCTN2	79867	HP:0000589	Coloboma
OMIM:614424	TCTN2	79867	HP:0000194	Open mouth
OMIM:614424	TCTN2	79867	HP:0000490	Deeply set eye
OMIM:614424	TCTN2	79867	HP:0000822	Hypertension
OMIM:614424	TCTN2	79867	HP:0002553	Highly arched eyebrow
OMIM:614424	TCTN2	79867	HP:0000494	Downslanted palpebral fissures
OMIM:614424	TCTN2	79867	HP:0010804	Tented upper lip vermilion
OMIM:614424	TCTN2	79867	HP:0010864	Intellectual disability, severe
OMIM:614424	TCTN2	79867	HP:0001252	Muscular hypotonia
OMIM:614424	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:614424	TCTN2	79867	HP:0000486	Strabismus
OMIM:614424	TCTN2	79867	HP:0000369	Low-set ears
OMIM:614424	TCTN2	79867	HP:0000639	Nystagmus
OMIM:614424	TCTN2	79867	HP:0000568	Microphthalmia
OMIM:614424	TCTN2	79867	HP:0001510	Growth delay
OMIM:614424	TCTN2	79867	HP:0000272	Malar flattening
OMIM:614424	TCTN2	79867	HP:0000107	Renal cyst
OMIM:614424	TCTN2	79867	HP:0000508	Ptosis
OMIM:614424	TCTN2	79867	HP:0000737	Irritability
OMIM:614424	TCTN2	79867	HP:0001305	Dandy-Walker malformation
OMIM:614424	TCTN2	79867	HP:0000426	Prominent nasal bridge
OMIM:614424	TCTN2	79867	HP:0100259	Postaxial polydactyly
OMIM:614424	TCTN2	79867	HP:0000238	Hydrocephalus
OMIM:614424	TCTN2	79867	HP:0000322	Short philtrum
OMIM:614424	TCTN2	79867	HP:0000316	Hypertelorism
OMIM:614424	TCTN2	79867	HP:0002084	Encephalocele
OMIM:614424	KIAA0586	9786	HP:0000358	Posteriorly rotated ears
OMIM:614424	KIAA0586	9786	HP:0001251	Ataxia
OMIM:614424	KIAA0586	9786	HP:0000286	Epicanthus
OMIM:614424	KIAA0586	9786	HP:0000589	Coloboma
OMIM:614424	KIAA0586	9786	HP:0000194	Open mouth
OMIM:614424	KIAA0586	9786	HP:0000490	Deeply set eye
OMIM:614424	KIAA0586	9786	HP:0000822	Hypertension
OMIM:614424	KIAA0586	9786	HP:0002553	Highly arched eyebrow
OMIM:614424	KIAA0586	9786	HP:0000494	Downslanted palpebral fissures
OMIM:614424	KIAA0586	9786	HP:0010804	Tented upper lip vermilion
OMIM:614424	KIAA0586	9786	HP:0010864	Intellectual disability, severe
OMIM:614424	KIAA0586	9786	HP:0001252	Muscular hypotonia
OMIM:614424	KIAA0586	9786	HP:0000007	Autosomal recessive inheritance
OMIM:614424	KIAA0586	9786	HP:0000486	Strabismus
OMIM:614424	KIAA0586	9786	HP:0000369	Low-set ears
OMIM:614424	KIAA0586	9786	HP:0000639	Nystagmus
OMIM:614424	KIAA0586	9786	HP:0000568	Microphthalmia
OMIM:614424	KIAA0586	9786	HP:0001510	Growth delay
OMIM:614424	KIAA0586	9786	HP:0000272	Malar flattening
OMIM:614424	KIAA0586	9786	HP:0000107	Renal cyst
OMIM:614424	KIAA0586	9786	HP:0000508	Ptosis
OMIM:614424	KIAA0586	9786	HP:0000737	Irritability
OMIM:614424	KIAA0586	9786	HP:0001305	Dandy-Walker malformation
OMIM:614424	KIAA0586	9786	HP:0000426	Prominent nasal bridge
OMIM:614424	KIAA0586	9786	HP:0100259	Postaxial polydactyly
OMIM:614424	KIAA0586	9786	HP:0000238	Hydrocephalus
OMIM:614424	KIAA0586	9786	HP:0000322	Short philtrum
OMIM:614424	KIAA0586	9786	HP:0000316	Hypertelorism
OMIM:614424	KIAA0586	9786	HP:0002084	Encephalocele
OMIM:614424	RPGRIP1L	23322	HP:0000358	Posteriorly rotated ears
OMIM:614424	RPGRIP1L	23322	HP:0001251	Ataxia
OMIM:614424	RPGRIP1L	23322	HP:0000286	Epicanthus
OMIM:614424	RPGRIP1L	23322	HP:0000589	Coloboma
OMIM:614424	RPGRIP1L	23322	HP:0000194	Open mouth
OMIM:614424	RPGRIP1L	23322	HP:0000490	Deeply set eye
OMIM:614424	RPGRIP1L	23322	HP:0000822	Hypertension
OMIM:614424	RPGRIP1L	23322	HP:0002553	Highly arched eyebrow
OMIM:614424	RPGRIP1L	23322	HP:0000494	Downslanted palpebral fissures
OMIM:614424	RPGRIP1L	23322	HP:0010804	Tented upper lip vermilion
OMIM:614424	RPGRIP1L	23322	HP:0010864	Intellectual disability, severe
OMIM:614424	RPGRIP1L	23322	HP:0001252	Muscular hypotonia
OMIM:614424	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:614424	RPGRIP1L	23322	HP:0000486	Strabismus
OMIM:614424	RPGRIP1L	23322	HP:0000369	Low-set ears
OMIM:614424	RPGRIP1L	23322	HP:0000639	Nystagmus
OMIM:614424	RPGRIP1L	23322	HP:0000568	Microphthalmia
OMIM:614424	RPGRIP1L	23322	HP:0001510	Growth delay
OMIM:614424	RPGRIP1L	23322	HP:0000272	Malar flattening
OMIM:614424	RPGRIP1L	23322	HP:0000107	Renal cyst
OMIM:614424	RPGRIP1L	23322	HP:0000508	Ptosis
OMIM:614424	RPGRIP1L	23322	HP:0000737	Irritability
OMIM:614424	RPGRIP1L	23322	HP:0001305	Dandy-Walker malformation
OMIM:614424	RPGRIP1L	23322	HP:0000426	Prominent nasal bridge
OMIM:614424	RPGRIP1L	23322	HP:0100259	Postaxial polydactyly
OMIM:614424	RPGRIP1L	23322	HP:0000238	Hydrocephalus
OMIM:614424	RPGRIP1L	23322	HP:0000322	Short philtrum
OMIM:614424	RPGRIP1L	23322	HP:0000316	Hypertelorism
OMIM:614424	RPGRIP1L	23322	HP:0002084	Encephalocele
OMIM:614424	TMEM216	51259	HP:0000358	Posteriorly rotated ears
OMIM:614424	TMEM216	51259	HP:0001251	Ataxia
OMIM:614424	TMEM216	51259	HP:0000286	Epicanthus
OMIM:614424	TMEM216	51259	HP:0000589	Coloboma
OMIM:614424	TMEM216	51259	HP:0000194	Open mouth
OMIM:614424	TMEM216	51259	HP:0000490	Deeply set eye
OMIM:614424	TMEM216	51259	HP:0000822	Hypertension
OMIM:614424	TMEM216	51259	HP:0002553	Highly arched eyebrow
OMIM:614424	TMEM216	51259	HP:0000494	Downslanted palpebral fissures
OMIM:614424	TMEM216	51259	HP:0010804	Tented upper lip vermilion
OMIM:614424	TMEM216	51259	HP:0010864	Intellectual disability, severe
OMIM:614424	TMEM216	51259	HP:0001252	Muscular hypotonia
OMIM:614424	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:614424	TMEM216	51259	HP:0000486	Strabismus
OMIM:614424	TMEM216	51259	HP:0000369	Low-set ears
OMIM:614424	TMEM216	51259	HP:0000639	Nystagmus
OMIM:614424	TMEM216	51259	HP:0000568	Microphthalmia
OMIM:614424	TMEM216	51259	HP:0001510	Growth delay
OMIM:614424	TMEM216	51259	HP:0000272	Malar flattening
OMIM:614424	TMEM216	51259	HP:0000107	Renal cyst
OMIM:614424	TMEM216	51259	HP:0000508	Ptosis
OMIM:614424	TMEM216	51259	HP:0000737	Irritability
OMIM:614424	TMEM216	51259	HP:0001305	Dandy-Walker malformation
OMIM:614424	TMEM216	51259	HP:0000426	Prominent nasal bridge
OMIM:614424	TMEM216	51259	HP:0100259	Postaxial polydactyly
OMIM:614424	TMEM216	51259	HP:0000238	Hydrocephalus
OMIM:614424	TMEM216	51259	HP:0000322	Short philtrum
OMIM:614424	TMEM216	51259	HP:0000316	Hypertelorism
OMIM:614424	TMEM216	51259	HP:0002084	Encephalocele
OMIM:614424	ARL13B	200894	HP:0000358	Posteriorly rotated ears
OMIM:614424	ARL13B	200894	HP:0001251	Ataxia
OMIM:614424	ARL13B	200894	HP:0000286	Epicanthus
OMIM:614424	ARL13B	200894	HP:0000589	Coloboma
OMIM:614424	ARL13B	200894	HP:0000194	Open mouth
OMIM:614424	ARL13B	200894	HP:0000490	Deeply set eye
OMIM:614424	ARL13B	200894	HP:0000822	Hypertension
OMIM:614424	ARL13B	200894	HP:0002553	Highly arched eyebrow
OMIM:614424	ARL13B	200894	HP:0000494	Downslanted palpebral fissures
OMIM:614424	ARL13B	200894	HP:0010804	Tented upper lip vermilion
OMIM:614424	ARL13B	200894	HP:0010864	Intellectual disability, severe
OMIM:614424	ARL13B	200894	HP:0001252	Muscular hypotonia
OMIM:614424	ARL13B	200894	HP:0000007	Autosomal recessive inheritance
OMIM:614424	ARL13B	200894	HP:0000486	Strabismus
OMIM:614424	ARL13B	200894	HP:0000369	Low-set ears
OMIM:614424	ARL13B	200894	HP:0000639	Nystagmus
OMIM:614424	ARL13B	200894	HP:0000568	Microphthalmia
OMIM:614424	ARL13B	200894	HP:0001510	Growth delay
OMIM:614424	ARL13B	200894	HP:0000272	Malar flattening
OMIM:614424	ARL13B	200894	HP:0000107	Renal cyst
OMIM:614424	ARL13B	200894	HP:0000508	Ptosis
OMIM:614424	ARL13B	200894	HP:0000737	Irritability
OMIM:614424	ARL13B	200894	HP:0001305	Dandy-Walker malformation
OMIM:614424	ARL13B	200894	HP:0000426	Prominent nasal bridge
OMIM:614424	ARL13B	200894	HP:0100259	Postaxial polydactyly
OMIM:614424	ARL13B	200894	HP:0000238	Hydrocephalus
OMIM:614424	ARL13B	200894	HP:0000322	Short philtrum
OMIM:614424	ARL13B	200894	HP:0000316	Hypertelorism
OMIM:614424	ARL13B	200894	HP:0002084	Encephalocele
OMIM:614424	TMEM231	79583	HP:0000358	Posteriorly rotated ears
OMIM:614424	TMEM231	79583	HP:0001251	Ataxia
OMIM:614424	TMEM231	79583	HP:0000286	Epicanthus
OMIM:614424	TMEM231	79583	HP:0000589	Coloboma
OMIM:614424	TMEM231	79583	HP:0000194	Open mouth
OMIM:614424	TMEM231	79583	HP:0000490	Deeply set eye
OMIM:614424	TMEM231	79583	HP:0000822	Hypertension
OMIM:614424	TMEM231	79583	HP:0002553	Highly arched eyebrow
OMIM:614424	TMEM231	79583	HP:0000494	Downslanted palpebral fissures
OMIM:614424	TMEM231	79583	HP:0010804	Tented upper lip vermilion
OMIM:614424	TMEM231	79583	HP:0010864	Intellectual disability, severe
OMIM:614424	TMEM231	79583	HP:0001252	Muscular hypotonia
OMIM:614424	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:614424	TMEM231	79583	HP:0000486	Strabismus
OMIM:614424	TMEM231	79583	HP:0000369	Low-set ears
OMIM:614424	TMEM231	79583	HP:0000639	Nystagmus
OMIM:614424	TMEM231	79583	HP:0000568	Microphthalmia
OMIM:614424	TMEM231	79583	HP:0001510	Growth delay
OMIM:614424	TMEM231	79583	HP:0000272	Malar flattening
OMIM:614424	TMEM231	79583	HP:0000107	Renal cyst
OMIM:614424	TMEM231	79583	HP:0000508	Ptosis
OMIM:614424	TMEM231	79583	HP:0000737	Irritability
OMIM:614424	TMEM231	79583	HP:0001305	Dandy-Walker malformation
OMIM:614424	TMEM231	79583	HP:0000426	Prominent nasal bridge
OMIM:614424	TMEM231	79583	HP:0100259	Postaxial polydactyly
OMIM:614424	TMEM231	79583	HP:0000238	Hydrocephalus
OMIM:614424	TMEM231	79583	HP:0000322	Short philtrum
OMIM:614424	TMEM231	79583	HP:0000316	Hypertelorism
OMIM:614424	TMEM231	79583	HP:0002084	Encephalocele
OMIM:269600	APOE	348	HP:0007400	Irregular hyperpigmentation
OMIM:269600	APOE	348	HP:0000498	Blepharitis
OMIM:269600	APOE	348	HP:0000969	Edema
OMIM:269600	APOE	348	HP:0001933	Subcutaneous hemorrhage
OMIM:269600	APOE	348	HP:0000478	Abnormality of the eye
OMIM:269600	APOE	348	HP:0100721	Mediastinal lymphadenopathy
OMIM:269600	APOE	348	HP:0001744	Splenomegaly
OMIM:269600	APOE	348	HP:0002240	Hepatomegaly
OMIM:269600	APOE	348	HP:0002113	Pulmonary infiltrates
OMIM:269600	APOE	348	HP:0000007	Autosomal recessive inheritance
OMIM:269600	APOE	348	HP:0001394	Cirrhosis
OMIM:269600	APOE	348	HP:0000488	Retinopathy
OMIM:269600	APOE	348	HP:0001873	Thrombocytopenia
OMIM:269600	APOE	348	HP:0001928	Abnormality of coagulation
OMIM:615821	DSP	1832	HP:0000982	Palmoplantar keratoderma
OMIM:615821	DSP	1832	HP:0009804	Reduced number of teeth
OMIM:615821	DSP	1832	HP:0001644	Dilated cardiomyopathy
OMIM:615821	DSP	1832	HP:0001279	Syncope
OMIM:615821	DSP	1832	HP:0002224	Woolly hair
OMIM:213700	CYP27A1	1593	HP:0002024	Malabsorption
OMIM:213700	CYP27A1	1593	HP:0000746	Delusions
OMIM:213700	CYP27A1	1593	HP:0010874	Tendon xanthomatosis
OMIM:213700	CYP27A1	1593	HP:0001249	Intellectual disability
OMIM:213700	CYP27A1	1593	HP:0000738	Hallucinations
OMIM:213700	CYP27A1	1593	HP:0002353	EEG abnormality
OMIM:213700	CYP27A1	1593	HP:0001250	Seizures
OMIM:213700	CYP27A1	1593	HP:0100321	Abnormality of the dentate nucleus
OMIM:213700	CYP27A1	1593	HP:0001257	Spasticity
OMIM:213700	CYP27A1	1593	HP:0001272	Cerebellar atrophy
OMIM:213700	CYP27A1	1593	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:213700	CYP27A1	1593	HP:0001081	Cholelithiasis
OMIM:213700	CYP27A1	1593	HP:0002376	Developmental regression
OMIM:213700	CYP27A1	1593	HP:0000518	Cataract
OMIM:213700	CYP27A1	1593	HP:0000939	Osteoporosis
OMIM:213700	CYP27A1	1593	HP:0001658	Myocardial infarction
OMIM:213700	CYP27A1	1593	HP:0002093	Respiratory insufficiency
OMIM:213700	CYP27A1	1593	HP:0009830	Peripheral neuropathy
OMIM:213700	CYP27A1	1593	HP:0007024	Pseudobulbar paralysis
OMIM:213700	CYP27A1	1593	HP:0001337	Tremor
OMIM:213700	CYP27A1	1593	HP:0004305	Involuntary movements
OMIM:213700	CYP27A1	1593	HP:0000543	Optic disc pallor
OMIM:213700	CYP27A1	1593	HP:0007256	Abnormal pyramidal signs
OMIM:213700	CYP27A1	1593	HP:0000726	Dementia
OMIM:213700	CYP27A1	1593	HP:0001251	Ataxia
OMIM:213700	CYP27A1	1593	HP:0002518	Abnormality of the periventricular white matter
OMIM:213700	CYP27A1	1593	HP:0001276	Hypertonia
OMIM:213700	CYP27A1	1593	HP:0001347	Hyperreflexia
OMIM:213700	CYP27A1	1593	HP:0001376	Limitation of joint mobility
OMIM:213700	CYP27A1	1593	HP:0000787	Nephrolithiasis
OMIM:213700	CYP27A1	1593	HP:0002014	Diarrhea
OMIM:213700	CYP27A1	1593	HP:0003107	Abnormality of cholesterol metabolism
OMIM:213700	CYP27A1	1593	HP:0001114	Xanthelasma
OMIM:213700	CYP27A1	1593	HP:0100543	Cognitive impairment
OMIM:213700	CYP27A1	1593	HP:0002059	Cerebral atrophy
OMIM:213700	CYP27A1	1593	HP:0001392	Abnormality of the liver
OMIM:213700	CYP27A1	1593	HP:0001324	Muscle weakness
OMIM:213700	CYP27A1	1593	HP:0002514	Cerebral calcification
OMIM:213700	CYP27A1	1593	HP:0002167	Neurological speech impairment
OMIM:213700	CYP27A1	1593	HP:0000007	Autosomal recessive inheritance
OMIM:616005	PIK3CD	5293	HP:0004313	Decreased antibody level in blood
OMIM:616005	PIK3CD	5293	HP:0002718	Recurrent bacterial infections
OMIM:616005	PIK3CD	5293	HP:0002205	Recurrent respiratory infections
OMIM:616005	PIK3CD	5293	HP:0002721	Immunodeficiency
OMIM:616005	PIK3R1	5295	HP:0004313	Decreased antibody level in blood
OMIM:616005	PIK3R1	5295	HP:0002718	Recurrent bacterial infections
OMIM:616005	PIK3R1	5295	HP:0002205	Recurrent respiratory infections
OMIM:616005	PIK3R1	5295	HP:0002721	Immunodeficiency
OMIM:178110	MYH3	4621	HP:0001363	Craniosynostosis
OMIM:178110	MYH3	4621	HP:0004322	Short stature
OMIM:178110	MYH3	4621	HP:0000494	Downslanted palpebral fissures
OMIM:178110	MYH3	4621	HP:0002948	Vertebral fusion
OMIM:178110	MYH3	4621	HP:0000175	Cleft palate
OMIM:178110	MYH3	4621	HP:0000470	Short neck
OMIM:178110	MYH3	4621	HP:0012385	Camptodactyly
OMIM:178110	MYH3	4621	HP:0000006	Autosomal dominant inheritance
OMIM:178110	MYH3	4621	HP:0000368	Low-set, posteriorly rotated ears
OMIM:178110	MYH3	4621	HP:0002937	Hemivertebrae
OMIM:178110	MYH3	4621	HP:0000508	Ptosis
OMIM:178110	MYH3	4621	HP:0002650	Scoliosis
OMIM:178110	MYH3	4621	HP:0003273	Hip contracture
OMIM:178110	MYH3	4621	HP:0002804	Arthrogryposis multiplex congenita
OMIM:178110	MYH3	4621	HP:0002987	Elbow flexion contracture
OMIM:178110	MYH3	4621	HP:0006380	Knee flexion contracture
OMIM:602771	MYH7	4625	HP:0003306	Spinal rigidity
OMIM:602771	MYH7	4625	HP:0001611	Nasal speech
OMIM:602771	MYH7	4625	HP:0010628	Facial palsy
OMIM:602771	MYH7	4625	HP:0001270	Motor delay
OMIM:602771	MYH7	4625	HP:0002650	Scoliosis
OMIM:602771	MYH7	4625	HP:0000218	High palate
OMIM:602771	MYH7	4625	HP:0003593	Infantile onset
OMIM:602771	MYH7	4625	HP:0003324	Generalized muscle weakness
OMIM:602771	MYH7	4625	HP:0003680	Nonprogressive
OMIM:602771	MYH7	4625	HP:0000007	Autosomal recessive inheritance
OMIM:602771	MYH7	4625	HP:0004322	Short stature
OMIM:602771	MYH7	4625	HP:0001620	High pitched voice
OMIM:602771	MYH7	4625	HP:0001508	Failure to thrive
OMIM:602771	MYH7	4625	HP:0001371	Flexion contracture
OMIM:602771	MYH7	4625	HP:0002421	Poor head control
OMIM:602771	MYH7	4625	HP:0001547	Abnormality of the rib cage
OMIM:602771	MYH7	4625	HP:0003560	Muscular dystrophy
OMIM:602771	MYH7	4625	HP:0001252	Muscular hypotonia
OMIM:602771	SEPN1	57190	HP:0003306	Spinal rigidity
OMIM:602771	SEPN1	57190	HP:0001611	Nasal speech
OMIM:602771	SEPN1	57190	HP:0010628	Facial palsy
OMIM:602771	SEPN1	57190	HP:0001270	Motor delay
OMIM:602771	SEPN1	57190	HP:0002650	Scoliosis
OMIM:602771	SEPN1	57190	HP:0000218	High palate
OMIM:602771	SEPN1	57190	HP:0003593	Infantile onset
OMIM:602771	SEPN1	57190	HP:0003324	Generalized muscle weakness
OMIM:602771	SEPN1	57190	HP:0003680	Nonprogressive
OMIM:602771	SEPN1	57190	HP:0000007	Autosomal recessive inheritance
OMIM:602771	SEPN1	57190	HP:0004322	Short stature
OMIM:602771	SEPN1	57190	HP:0001620	High pitched voice
OMIM:602771	SEPN1	57190	HP:0001508	Failure to thrive
OMIM:602771	SEPN1	57190	HP:0001371	Flexion contracture
OMIM:602771	SEPN1	57190	HP:0002421	Poor head control
OMIM:602771	SEPN1	57190	HP:0001547	Abnormality of the rib cage
OMIM:602771	SEPN1	57190	HP:0003560	Muscular dystrophy
OMIM:602771	SEPN1	57190	HP:0001252	Muscular hypotonia
OMIM:602771	TTN	7273	HP:0003306	Spinal rigidity
OMIM:602771	TTN	7273	HP:0001611	Nasal speech
OMIM:602771	TTN	7273	HP:0010628	Facial palsy
OMIM:602771	TTN	7273	HP:0001270	Motor delay
OMIM:602771	TTN	7273	HP:0002650	Scoliosis
OMIM:602771	TTN	7273	HP:0000218	High palate
OMIM:602771	TTN	7273	HP:0003593	Infantile onset
OMIM:602771	TTN	7273	HP:0003324	Generalized muscle weakness
OMIM:602771	TTN	7273	HP:0003680	Nonprogressive
OMIM:602771	TTN	7273	HP:0000007	Autosomal recessive inheritance
OMIM:602771	TTN	7273	HP:0004322	Short stature
OMIM:602771	TTN	7273	HP:0001620	High pitched voice
OMIM:602771	TTN	7273	HP:0001508	Failure to thrive
OMIM:602771	TTN	7273	HP:0001371	Flexion contracture
OMIM:602771	TTN	7273	HP:0002421	Poor head control
OMIM:602771	TTN	7273	HP:0001547	Abnormality of the rib cage
OMIM:602771	TTN	7273	HP:0003560	Muscular dystrophy
OMIM:602771	TTN	7273	HP:0001252	Muscular hypotonia
OMIM:602771	ACTA1	58	HP:0003306	Spinal rigidity
OMIM:602771	ACTA1	58	HP:0001611	Nasal speech
OMIM:602771	ACTA1	58	HP:0010628	Facial palsy
OMIM:602771	ACTA1	58	HP:0001270	Motor delay
OMIM:602771	ACTA1	58	HP:0002650	Scoliosis
OMIM:602771	ACTA1	58	HP:0000218	High palate
OMIM:602771	ACTA1	58	HP:0003593	Infantile onset
OMIM:602771	ACTA1	58	HP:0003324	Generalized muscle weakness
OMIM:602771	ACTA1	58	HP:0003680	Nonprogressive
OMIM:602771	ACTA1	58	HP:0000007	Autosomal recessive inheritance
OMIM:602771	ACTA1	58	HP:0004322	Short stature
OMIM:602771	ACTA1	58	HP:0001620	High pitched voice
OMIM:602771	ACTA1	58	HP:0001508	Failure to thrive
OMIM:602771	ACTA1	58	HP:0001371	Flexion contracture
OMIM:602771	ACTA1	58	HP:0002421	Poor head control
OMIM:602771	ACTA1	58	HP:0001547	Abnormality of the rib cage
OMIM:602771	ACTA1	58	HP:0003560	Muscular dystrophy
OMIM:602771	ACTA1	58	HP:0001252	Muscular hypotonia
OMIM:208530	GDF1	2657	HP:0002101	Abnormal lung lobation
OMIM:208530	GDF1	2657	HP:0000007	Autosomal recessive inheritance
OMIM:208530	GDF1	2657	HP:0001629	Ventricular septal defect
OMIM:208530	GDF1	2657	HP:0001748	Polysplenia
OMIM:208530	GDF1	2657	HP:0001674	Complete atrioventricular canal defect
OMIM:208530	GDF1	2657	HP:0001696	Situs inversus totalis
OMIM:208530	GDF1	2657	HP:0001274	Agenesis of corpus callosum
OMIM:208530	GDF1	2657	HP:0001631	Atria septal defect
OMIM:208530	GDF1	2657	HP:0004935	Pulmonary artery atresia
OMIM:208530	GDF1	2657	HP:0001642	Pulmonic stenosis
OMIM:616278	ABCD3	5825	HP:0001399	Hepatic failure
OMIM:616278	ABCD3	5825	HP:0002240	Hepatomegaly
OMIM:616278	ABCD3	5825	HP:0002910	Elevated hepatic transaminases
OMIM:616278	ABCD3	5825	HP:0000952	Jaundice
OMIM:616278	ABCD3	5825	HP:0001744	Splenomegaly
OMIM:615593	TNFRSF4	7293	HP:0001744	Splenomegaly
OMIM:615593	TNFRSF4	7293	HP:0002721	Immunodeficiency
OMIM:615593	TNFRSF4	7293	HP:0000007	Autosomal recessive inheritance
OMIM:615593	TNFRSF4	7293	HP:0001876	Pancytopenia
OMIM:205250	TREM2	54209	HP:0000007	Autosomal recessive inheritance
OMIM:205250	TREM2	54209	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	TREM2	54209	HP:0003202	Skeletal muscle atrophy
OMIM:205250	TREM2	54209	HP:0002460	Distal muscle weakness
OMIM:205250	TREM2	54209	HP:0002483	Bulbar signs
OMIM:205250	VAPB	9217	HP:0000007	Autosomal recessive inheritance
OMIM:205250	VAPB	9217	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	VAPB	9217	HP:0003202	Skeletal muscle atrophy
OMIM:205250	VAPB	9217	HP:0002460	Distal muscle weakness
OMIM:205250	VAPB	9217	HP:0002483	Bulbar signs
OMIM:205250	PON1	5444	HP:0000007	Autosomal recessive inheritance
OMIM:205250	PON1	5444	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	PON1	5444	HP:0003202	Skeletal muscle atrophy
OMIM:205250	PON1	5444	HP:0002460	Distal muscle weakness
OMIM:205250	PON1	5444	HP:0002483	Bulbar signs
OMIM:205250	PON2	5445	HP:0000007	Autosomal recessive inheritance
OMIM:205250	PON2	5445	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	PON2	5445	HP:0003202	Skeletal muscle atrophy
OMIM:205250	PON2	5445	HP:0002460	Distal muscle weakness
OMIM:205250	PON2	5445	HP:0002483	Bulbar signs
OMIM:205250	PON3	5446	HP:0000007	Autosomal recessive inheritance
OMIM:205250	PON3	5446	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	PON3	5446	HP:0003202	Skeletal muscle atrophy
OMIM:205250	PON3	5446	HP:0002460	Distal muscle weakness
OMIM:205250	PON3	5446	HP:0002483	Bulbar signs
OMIM:205250	NEFH	4744	HP:0000007	Autosomal recessive inheritance
OMIM:205250	NEFH	4744	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	NEFH	4744	HP:0003202	Skeletal muscle atrophy
OMIM:205250	NEFH	4744	HP:0002460	Distal muscle weakness
OMIM:205250	NEFH	4744	HP:0002483	Bulbar signs
OMIM:205250	DAO	1610	HP:0000007	Autosomal recessive inheritance
OMIM:205250	DAO	1610	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	DAO	1610	HP:0003202	Skeletal muscle atrophy
OMIM:205250	DAO	1610	HP:0002460	Distal muscle weakness
OMIM:205250	DAO	1610	HP:0002483	Bulbar signs
OMIM:205250	TARDBP	23435	HP:0000007	Autosomal recessive inheritance
OMIM:205250	TARDBP	23435	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	TARDBP	23435	HP:0003202	Skeletal muscle atrophy
OMIM:205250	TARDBP	23435	HP:0002460	Distal muscle weakness
OMIM:205250	TARDBP	23435	HP:0002483	Bulbar signs
OMIM:205250	PPARGC1A	10891	HP:0000007	Autosomal recessive inheritance
OMIM:205250	PPARGC1A	10891	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	PPARGC1A	10891	HP:0003202	Skeletal muscle atrophy
OMIM:205250	PPARGC1A	10891	HP:0002460	Distal muscle weakness
OMIM:205250	PPARGC1A	10891	HP:0002483	Bulbar signs
OMIM:205250	ERBB4	2066	HP:0000007	Autosomal recessive inheritance
OMIM:205250	ERBB4	2066	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	ERBB4	2066	HP:0003202	Skeletal muscle atrophy
OMIM:205250	ERBB4	2066	HP:0002460	Distal muscle weakness
OMIM:205250	ERBB4	2066	HP:0002483	Bulbar signs
OMIM:205250	CHCHD10	400916	HP:0000007	Autosomal recessive inheritance
OMIM:205250	CHCHD10	400916	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	CHCHD10	400916	HP:0003202	Skeletal muscle atrophy
OMIM:205250	CHCHD10	400916	HP:0002460	Distal muscle weakness
OMIM:205250	CHCHD10	400916	HP:0002483	Bulbar signs
OMIM:205250	OPTN	10133	HP:0000007	Autosomal recessive inheritance
OMIM:205250	OPTN	10133	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	OPTN	10133	HP:0003202	Skeletal muscle atrophy
OMIM:205250	OPTN	10133	HP:0002460	Distal muscle weakness
OMIM:205250	OPTN	10133	HP:0002483	Bulbar signs
OMIM:205250	FUS	2521	HP:0000007	Autosomal recessive inheritance
OMIM:205250	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	FUS	2521	HP:0003202	Skeletal muscle atrophy
OMIM:205250	FUS	2521	HP:0002460	Distal muscle weakness
OMIM:205250	FUS	2521	HP:0002483	Bulbar signs
OMIM:205250	UBQLN2	29978	HP:0000007	Autosomal recessive inheritance
OMIM:205250	UBQLN2	29978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	UBQLN2	29978	HP:0003202	Skeletal muscle atrophy
OMIM:205250	UBQLN2	29978	HP:0002460	Distal muscle weakness
OMIM:205250	UBQLN2	29978	HP:0002483	Bulbar signs
OMIM:205250	ANG	283	HP:0000007	Autosomal recessive inheritance
OMIM:205250	ANG	283	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	ANG	283	HP:0003202	Skeletal muscle atrophy
OMIM:205250	ANG	283	HP:0002460	Distal muscle weakness
OMIM:205250	ANG	283	HP:0002483	Bulbar signs
OMIM:205250	C9ORF72	203228	HP:0000007	Autosomal recessive inheritance
OMIM:205250	C9ORF72	203228	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	C9ORF72	203228	HP:0003202	Skeletal muscle atrophy
OMIM:205250	C9ORF72	203228	HP:0002460	Distal muscle weakness
OMIM:205250	C9ORF72	203228	HP:0002483	Bulbar signs
OMIM:205250	PFN1	5216	HP:0000007	Autosomal recessive inheritance
OMIM:205250	PFN1	5216	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	PFN1	5216	HP:0003202	Skeletal muscle atrophy
OMIM:205250	PFN1	5216	HP:0002460	Distal muscle weakness
OMIM:205250	PFN1	5216	HP:0002483	Bulbar signs
OMIM:205250	ATXN2	6311	HP:0000007	Autosomal recessive inheritance
OMIM:205250	ATXN2	6311	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	ATXN2	6311	HP:0003202	Skeletal muscle atrophy
OMIM:205250	ATXN2	6311	HP:0002460	Distal muscle weakness
OMIM:205250	ATXN2	6311	HP:0002483	Bulbar signs
OMIM:205250	DCTN1	1639	HP:0000007	Autosomal recessive inheritance
OMIM:205250	DCTN1	1639	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	DCTN1	1639	HP:0003202	Skeletal muscle atrophy
OMIM:205250	DCTN1	1639	HP:0002460	Distal muscle weakness
OMIM:205250	DCTN1	1639	HP:0002483	Bulbar signs
OMIM:205250	FIG4	9896	HP:0000007	Autosomal recessive inheritance
OMIM:205250	FIG4	9896	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	FIG4	9896	HP:0003202	Skeletal muscle atrophy
OMIM:205250	FIG4	9896	HP:0002460	Distal muscle weakness
OMIM:205250	FIG4	9896	HP:0002483	Bulbar signs
OMIM:205250	HNRNPA1	3178	HP:0000007	Autosomal recessive inheritance
OMIM:205250	HNRNPA1	3178	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	HNRNPA1	3178	HP:0003202	Skeletal muscle atrophy
OMIM:205250	HNRNPA1	3178	HP:0002460	Distal muscle weakness
OMIM:205250	HNRNPA1	3178	HP:0002483	Bulbar signs
OMIM:205250	SQSTM1	8878	HP:0000007	Autosomal recessive inheritance
OMIM:205250	SQSTM1	8878	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	SQSTM1	8878	HP:0003202	Skeletal muscle atrophy
OMIM:205250	SQSTM1	8878	HP:0002460	Distal muscle weakness
OMIM:205250	SQSTM1	8878	HP:0002483	Bulbar signs
OMIM:205250	UNC13A	23025	HP:0000007	Autosomal recessive inheritance
OMIM:205250	UNC13A	23025	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	UNC13A	23025	HP:0003202	Skeletal muscle atrophy
OMIM:205250	UNC13A	23025	HP:0002460	Distal muscle weakness
OMIM:205250	UNC13A	23025	HP:0002483	Bulbar signs
OMIM:205250	MATR3	9782	HP:0000007	Autosomal recessive inheritance
OMIM:205250	MATR3	9782	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	MATR3	9782	HP:0003202	Skeletal muscle atrophy
OMIM:205250	MATR3	9782	HP:0002460	Distal muscle weakness
OMIM:205250	MATR3	9782	HP:0002483	Bulbar signs
OMIM:205250	TBK1	29110	HP:0000007	Autosomal recessive inheritance
OMIM:205250	TBK1	29110	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	TBK1	29110	HP:0003202	Skeletal muscle atrophy
OMIM:205250	TBK1	29110	HP:0002460	Distal muscle weakness
OMIM:205250	TBK1	29110	HP:0002483	Bulbar signs
OMIM:205250	SOD1	6647	HP:0000007	Autosomal recessive inheritance
OMIM:205250	SOD1	6647	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	SOD1	6647	HP:0003202	Skeletal muscle atrophy
OMIM:205250	SOD1	6647	HP:0002460	Distal muscle weakness
OMIM:205250	SOD1	6647	HP:0002483	Bulbar signs
OMIM:205250	VCP	7415	HP:0000007	Autosomal recessive inheritance
OMIM:205250	VCP	7415	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	VCP	7415	HP:0003202	Skeletal muscle atrophy
OMIM:205250	VCP	7415	HP:0002460	Distal muscle weakness
OMIM:205250	VCP	7415	HP:0002483	Bulbar signs
OMIM:205250	CHMP2B	25978	HP:0000007	Autosomal recessive inheritance
OMIM:205250	CHMP2B	25978	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	CHMP2B	25978	HP:0003202	Skeletal muscle atrophy
OMIM:205250	CHMP2B	25978	HP:0002460	Distal muscle weakness
OMIM:205250	CHMP2B	25978	HP:0002483	Bulbar signs
OMIM:205250	PRPH	5630	HP:0000007	Autosomal recessive inheritance
OMIM:205250	PRPH	5630	HP:0007354	Amyotrophic lateral sclerosis
OMIM:205250	PRPH	5630	HP:0003202	Skeletal muscle atrophy
OMIM:205250	PRPH	5630	HP:0002460	Distal muscle weakness
OMIM:205250	PRPH	5630	HP:0002483	Bulbar signs
OMIM:311150	TIMM8A	1678	HP:0001417	X-linked inheritance
OMIM:311150	TIMM8A	1678	HP:0000618	Blindness
OMIM:311150	TIMM8A	1678	HP:0002514	Cerebral calcification
OMIM:311150	TIMM8A	1678	HP:0000648	Optic atrophy
OMIM:311150	TIMM8A	1678	HP:0000726	Dementia
OMIM:216400	ERCC1	2067	HP:0001260	Dysarthria
OMIM:216400	ERCC1	2067	HP:0000670	Carious teeth
OMIM:216400	ERCC1	2067	HP:0000680	Delayed eruption of primary teeth
OMIM:216400	ERCC1	2067	HP:0000486	Strabismus
OMIM:216400	ERCC1	2067	HP:0000970	Anhidrosis
OMIM:216400	ERCC1	2067	HP:0000135	Hypogonadism
OMIM:216400	ERCC1	2067	HP:0005328	Progeroid facial appearance
OMIM:216400	ERCC1	2067	HP:0006958	Abnormal auditory evoked potentials
OMIM:216400	ERCC1	2067	HP:0000303	Mandibular prognathia
OMIM:216400	ERCC1	2067	HP:0000762	Decreased nerve conduction velocity
OMIM:216400	ERCC1	2067	HP:0000518	Cataract
OMIM:216400	ERCC1	2067	HP:0001249	Intellectual disability
OMIM:216400	ERCC1	2067	HP:0001250	Seizures
OMIM:216400	ERCC1	2067	HP:0000054	Micropenis
OMIM:216400	ERCC1	2067	HP:0000639	Nystagmus
OMIM:216400	ERCC1	2067	HP:0008070	Sparse hair
OMIM:216400	ERCC1	2067	HP:0000649	Abnormality of visual evoked potentials
OMIM:216400	ERCC1	2067	HP:0000407	Sensorineural hearing impairment
OMIM:216400	ERCC1	2067	HP:0001271	Polyneuropathy
OMIM:216400	ERCC1	2067	HP:0000987	Atypical scarring of skin
OMIM:216400	ERCC1	2067	HP:0007759	Opacification of the corneal stroma
OMIM:216400	ERCC1	2067	HP:0002808	Kyphosis
OMIM:216400	ERCC1	2067	HP:0000648	Optic atrophy
OMIM:216400	ERCC1	2067	HP:0002135	Basal ganglia calcification
OMIM:216400	ERCC1	2067	HP:0000083	Renal insufficiency
OMIM:216400	ERCC1	2067	HP:0002240	Hepatomegaly
OMIM:216400	ERCC1	2067	HP:0001324	Muscle weakness
OMIM:216400	ERCC1	2067	HP:0000858	Menstrual irregularities
OMIM:216400	ERCC1	2067	HP:0011675	Arrhythmia
OMIM:216400	ERCC1	2067	HP:0001251	Ataxia
OMIM:216400	ERCC1	2067	HP:0000093	Proteinuria
OMIM:216400	ERCC1	2067	HP:0001511	Intrauterine growth retardation
OMIM:216400	ERCC1	2067	HP:0001376	Limitation of joint mobility
OMIM:216400	ERCC1	2067	HP:0000992	Cutaneous photosensitivity
OMIM:216400	ERCC1	2067	HP:0000007	Autosomal recessive inheritance
OMIM:216400	ERCC1	2067	HP:0000252	Microcephaly
OMIM:216400	ERCC1	2067	HP:0001337	Tremor
OMIM:216400	ERCC1	2067	HP:0002059	Cerebral atrophy
OMIM:216400	ERCC1	2067	HP:0000822	Hypertension
OMIM:216400	ERCC1	2067	HP:0000958	Dry skin
OMIM:216400	ERCC1	2067	HP:0000689	Dental malocclusion
OMIM:216400	ERCC1	2067	HP:0002684	Thickened calvaria
OMIM:216400	ERCC1	2067	HP:0000726	Dementia
OMIM:216400	ERCC1	2067	HP:0000685	Hypoplasia of teeth
OMIM:216400	ERCC1	2067	HP:0000580	Pigmentary retinopathy
OMIM:216400	ERCC1	2067	HP:0001288	Gait disturbance
OMIM:216400	ERCC1	2067	HP:0001744	Splenomegaly
OMIM:216400	ERCC1	2067	HP:0001000	Abnormality of skin pigmentation
OMIM:216400	ERCC1	2067	HP:0000377	Abnormality of the pinna
OMIM:216400	ERCC1	2067	HP:0000540	Hypermetropia
OMIM:216400	ERCC1	2067	HP:0000028	Cryptorchidism
OMIM:216400	ERCC4	2072	HP:0001260	Dysarthria
OMIM:216400	ERCC4	2072	HP:0000670	Carious teeth
OMIM:216400	ERCC4	2072	HP:0000680	Delayed eruption of primary teeth
OMIM:216400	ERCC4	2072	HP:0000486	Strabismus
OMIM:216400	ERCC4	2072	HP:0000970	Anhidrosis
OMIM:216400	ERCC4	2072	HP:0000135	Hypogonadism
OMIM:216400	ERCC4	2072	HP:0005328	Progeroid facial appearance
OMIM:216400	ERCC4	2072	HP:0006958	Abnormal auditory evoked potentials
OMIM:216400	ERCC4	2072	HP:0000303	Mandibular prognathia
OMIM:216400	ERCC4	2072	HP:0000762	Decreased nerve conduction velocity
OMIM:216400	ERCC4	2072	HP:0000518	Cataract
OMIM:216400	ERCC4	2072	HP:0001249	Intellectual disability
OMIM:216400	ERCC4	2072	HP:0001250	Seizures
OMIM:216400	ERCC4	2072	HP:0000054	Micropenis
OMIM:216400	ERCC4	2072	HP:0000639	Nystagmus
OMIM:216400	ERCC4	2072	HP:0008070	Sparse hair
OMIM:216400	ERCC4	2072	HP:0000649	Abnormality of visual evoked potentials
OMIM:216400	ERCC4	2072	HP:0000407	Sensorineural hearing impairment
OMIM:216400	ERCC4	2072	HP:0001271	Polyneuropathy
OMIM:216400	ERCC4	2072	HP:0000987	Atypical scarring of skin
OMIM:216400	ERCC4	2072	HP:0007759	Opacification of the corneal stroma
OMIM:216400	ERCC4	2072	HP:0002808	Kyphosis
OMIM:216400	ERCC4	2072	HP:0000648	Optic atrophy
OMIM:216400	ERCC4	2072	HP:0002135	Basal ganglia calcification
OMIM:216400	ERCC4	2072	HP:0000083	Renal insufficiency
OMIM:216400	ERCC4	2072	HP:0002240	Hepatomegaly
OMIM:216400	ERCC4	2072	HP:0001324	Muscle weakness
OMIM:216400	ERCC4	2072	HP:0000858	Menstrual irregularities
OMIM:216400	ERCC4	2072	HP:0011675	Arrhythmia
OMIM:216400	ERCC4	2072	HP:0001251	Ataxia
OMIM:216400	ERCC4	2072	HP:0000093	Proteinuria
OMIM:216400	ERCC4	2072	HP:0001511	Intrauterine growth retardation
OMIM:216400	ERCC4	2072	HP:0001376	Limitation of joint mobility
OMIM:216400	ERCC4	2072	HP:0000992	Cutaneous photosensitivity
OMIM:216400	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:216400	ERCC4	2072	HP:0000252	Microcephaly
OMIM:216400	ERCC4	2072	HP:0001337	Tremor
OMIM:216400	ERCC4	2072	HP:0002059	Cerebral atrophy
OMIM:216400	ERCC4	2072	HP:0000822	Hypertension
OMIM:216400	ERCC4	2072	HP:0000958	Dry skin
OMIM:216400	ERCC4	2072	HP:0000689	Dental malocclusion
OMIM:216400	ERCC4	2072	HP:0002684	Thickened calvaria
OMIM:216400	ERCC4	2072	HP:0000726	Dementia
OMIM:216400	ERCC4	2072	HP:0000685	Hypoplasia of teeth
OMIM:216400	ERCC4	2072	HP:0000580	Pigmentary retinopathy
OMIM:216400	ERCC4	2072	HP:0001288	Gait disturbance
OMIM:216400	ERCC4	2072	HP:0001744	Splenomegaly
OMIM:216400	ERCC4	2072	HP:0001000	Abnormality of skin pigmentation
OMIM:216400	ERCC4	2072	HP:0000377	Abnormality of the pinna
OMIM:216400	ERCC4	2072	HP:0000540	Hypermetropia
OMIM:216400	ERCC4	2072	HP:0000028	Cryptorchidism
OMIM:216400	ERCC8	1161	HP:0001260	Dysarthria
OMIM:216400	ERCC8	1161	HP:0000670	Carious teeth
OMIM:216400	ERCC8	1161	HP:0000680	Delayed eruption of primary teeth
OMIM:216400	ERCC8	1161	HP:0000486	Strabismus
OMIM:216400	ERCC8	1161	HP:0000970	Anhidrosis
OMIM:216400	ERCC8	1161	HP:0000135	Hypogonadism
OMIM:216400	ERCC8	1161	HP:0005328	Progeroid facial appearance
OMIM:216400	ERCC8	1161	HP:0006958	Abnormal auditory evoked potentials
OMIM:216400	ERCC8	1161	HP:0000303	Mandibular prognathia
OMIM:216400	ERCC8	1161	HP:0000762	Decreased nerve conduction velocity
OMIM:216400	ERCC8	1161	HP:0000518	Cataract
OMIM:216400	ERCC8	1161	HP:0001249	Intellectual disability
OMIM:216400	ERCC8	1161	HP:0001250	Seizures
OMIM:216400	ERCC8	1161	HP:0000054	Micropenis
OMIM:216400	ERCC8	1161	HP:0000639	Nystagmus
OMIM:216400	ERCC8	1161	HP:0008070	Sparse hair
OMIM:216400	ERCC8	1161	HP:0000649	Abnormality of visual evoked potentials
OMIM:216400	ERCC8	1161	HP:0000407	Sensorineural hearing impairment
OMIM:216400	ERCC8	1161	HP:0001271	Polyneuropathy
OMIM:216400	ERCC8	1161	HP:0000987	Atypical scarring of skin
OMIM:216400	ERCC8	1161	HP:0007759	Opacification of the corneal stroma
OMIM:216400	ERCC8	1161	HP:0002808	Kyphosis
OMIM:216400	ERCC8	1161	HP:0000648	Optic atrophy
OMIM:216400	ERCC8	1161	HP:0002135	Basal ganglia calcification
OMIM:216400	ERCC8	1161	HP:0000083	Renal insufficiency
OMIM:216400	ERCC8	1161	HP:0002240	Hepatomegaly
OMIM:216400	ERCC8	1161	HP:0001324	Muscle weakness
OMIM:216400	ERCC8	1161	HP:0000858	Menstrual irregularities
OMIM:216400	ERCC8	1161	HP:0011675	Arrhythmia
OMIM:216400	ERCC8	1161	HP:0001251	Ataxia
OMIM:216400	ERCC8	1161	HP:0000093	Proteinuria
OMIM:216400	ERCC8	1161	HP:0001511	Intrauterine growth retardation
OMIM:216400	ERCC8	1161	HP:0001376	Limitation of joint mobility
OMIM:216400	ERCC8	1161	HP:0000992	Cutaneous photosensitivity
OMIM:216400	ERCC8	1161	HP:0000007	Autosomal recessive inheritance
OMIM:216400	ERCC8	1161	HP:0000252	Microcephaly
OMIM:216400	ERCC8	1161	HP:0001337	Tremor
OMIM:216400	ERCC8	1161	HP:0002059	Cerebral atrophy
OMIM:216400	ERCC8	1161	HP:0000822	Hypertension
OMIM:216400	ERCC8	1161	HP:0000958	Dry skin
OMIM:216400	ERCC8	1161	HP:0000689	Dental malocclusion
OMIM:216400	ERCC8	1161	HP:0002684	Thickened calvaria
OMIM:216400	ERCC8	1161	HP:0000726	Dementia
OMIM:216400	ERCC8	1161	HP:0000685	Hypoplasia of teeth
OMIM:216400	ERCC8	1161	HP:0000580	Pigmentary retinopathy
OMIM:216400	ERCC8	1161	HP:0001288	Gait disturbance
OMIM:216400	ERCC8	1161	HP:0001744	Splenomegaly
OMIM:216400	ERCC8	1161	HP:0001000	Abnormality of skin pigmentation
OMIM:216400	ERCC8	1161	HP:0000377	Abnormality of the pinna
OMIM:216400	ERCC8	1161	HP:0000540	Hypermetropia
OMIM:216400	ERCC8	1161	HP:0000028	Cryptorchidism
OMIM:216400	ERCC6	2074	HP:0001260	Dysarthria
OMIM:216400	ERCC6	2074	HP:0000670	Carious teeth
OMIM:216400	ERCC6	2074	HP:0000680	Delayed eruption of primary teeth
OMIM:216400	ERCC6	2074	HP:0000486	Strabismus
OMIM:216400	ERCC6	2074	HP:0000970	Anhidrosis
OMIM:216400	ERCC6	2074	HP:0000135	Hypogonadism
OMIM:216400	ERCC6	2074	HP:0005328	Progeroid facial appearance
OMIM:216400	ERCC6	2074	HP:0006958	Abnormal auditory evoked potentials
OMIM:216400	ERCC6	2074	HP:0000303	Mandibular prognathia
OMIM:216400	ERCC6	2074	HP:0000762	Decreased nerve conduction velocity
OMIM:216400	ERCC6	2074	HP:0000518	Cataract
OMIM:216400	ERCC6	2074	HP:0001249	Intellectual disability
OMIM:216400	ERCC6	2074	HP:0001250	Seizures
OMIM:216400	ERCC6	2074	HP:0000054	Micropenis
OMIM:216400	ERCC6	2074	HP:0000639	Nystagmus
OMIM:216400	ERCC6	2074	HP:0008070	Sparse hair
OMIM:216400	ERCC6	2074	HP:0000649	Abnormality of visual evoked potentials
OMIM:216400	ERCC6	2074	HP:0000407	Sensorineural hearing impairment
OMIM:216400	ERCC6	2074	HP:0001271	Polyneuropathy
OMIM:216400	ERCC6	2074	HP:0000987	Atypical scarring of skin
OMIM:216400	ERCC6	2074	HP:0007759	Opacification of the corneal stroma
OMIM:216400	ERCC6	2074	HP:0002808	Kyphosis
OMIM:216400	ERCC6	2074	HP:0000648	Optic atrophy
OMIM:216400	ERCC6	2074	HP:0002135	Basal ganglia calcification
OMIM:216400	ERCC6	2074	HP:0000083	Renal insufficiency
OMIM:216400	ERCC6	2074	HP:0002240	Hepatomegaly
OMIM:216400	ERCC6	2074	HP:0001324	Muscle weakness
OMIM:216400	ERCC6	2074	HP:0000858	Menstrual irregularities
OMIM:216400	ERCC6	2074	HP:0011675	Arrhythmia
OMIM:216400	ERCC6	2074	HP:0001251	Ataxia
OMIM:216400	ERCC6	2074	HP:0000093	Proteinuria
OMIM:216400	ERCC6	2074	HP:0001511	Intrauterine growth retardation
OMIM:216400	ERCC6	2074	HP:0001376	Limitation of joint mobility
OMIM:216400	ERCC6	2074	HP:0000992	Cutaneous photosensitivity
OMIM:216400	ERCC6	2074	HP:0000007	Autosomal recessive inheritance
OMIM:216400	ERCC6	2074	HP:0000252	Microcephaly
OMIM:216400	ERCC6	2074	HP:0001337	Tremor
OMIM:216400	ERCC6	2074	HP:0002059	Cerebral atrophy
OMIM:216400	ERCC6	2074	HP:0000822	Hypertension
OMIM:216400	ERCC6	2074	HP:0000958	Dry skin
OMIM:216400	ERCC6	2074	HP:0000689	Dental malocclusion
OMIM:216400	ERCC6	2074	HP:0002684	Thickened calvaria
OMIM:216400	ERCC6	2074	HP:0000726	Dementia
OMIM:216400	ERCC6	2074	HP:0000685	Hypoplasia of teeth
OMIM:216400	ERCC6	2074	HP:0000580	Pigmentary retinopathy
OMIM:216400	ERCC6	2074	HP:0001288	Gait disturbance
OMIM:216400	ERCC6	2074	HP:0001744	Splenomegaly
OMIM:216400	ERCC6	2074	HP:0001000	Abnormality of skin pigmentation
OMIM:216400	ERCC6	2074	HP:0000377	Abnormality of the pinna
OMIM:216400	ERCC6	2074	HP:0000540	Hypermetropia
OMIM:216400	ERCC6	2074	HP:0000028	Cryptorchidism
OMIM:275630	ABHD5	51099	HP:0002240	Hepatomegaly
OMIM:275630	ABHD5	51099	HP:0001596	Alopecia
OMIM:275630	ABHD5	51099	HP:0000486	Strabismus
OMIM:275630	ABHD5	51099	HP:0003198	Myopathy
OMIM:275630	ABHD5	51099	HP:0008551	Microtia
OMIM:275630	ABHD5	51099	HP:0000232	Everted lower lip vermilion
OMIM:275630	ABHD5	51099	HP:0001249	Intellectual disability
OMIM:275630	ABHD5	51099	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:275630	ABHD5	51099	HP:0000639	Nystagmus
OMIM:275630	ABHD5	51099	HP:0001324	Muscle weakness
OMIM:275630	ABHD5	51099	HP:0000007	Autosomal recessive inheritance
OMIM:275630	ABHD5	51099	HP:0001397	Hepatic steatosis
OMIM:275630	ABHD5	51099	HP:0001251	Ataxia
OMIM:275630	ABHD5	51099	HP:0000523	Subcapsular cataract
OMIM:275630	ABHD5	51099	HP:0000407	Sensorineural hearing impairment
ORPHANET:1949	KCNQ2	3785	HP:0001250	Seizures
ORPHANET:1949	KCNQ2	3785	HP:0001276	Hypertonia
ORPHANET:1949	KCNQ2	3785	HP:0100543	Cognitive impairment
ORPHANET:1949	KCNQ3	3786	HP:0001250	Seizures
ORPHANET:1949	KCNQ3	3786	HP:0001276	Hypertonia
ORPHANET:1949	KCNQ3	3786	HP:0100543	Cognitive impairment
OMIM:615768	STUB1	10273	HP:0001257	Spasticity
OMIM:615768	STUB1	10273	HP:0011448	Ankle clonus
OMIM:615768	STUB1	10273	HP:0000544	External ophthalmoplegia
OMIM:615768	STUB1	10273	HP:0001260	Dysarthria
OMIM:615768	STUB1	10273	HP:0002070	Limb ataxia
OMIM:615768	STUB1	10273	HP:0001321	Cerebellar hypoplasia
OMIM:615768	STUB1	10273	HP:0000639	Nystagmus
OMIM:615768	STUB1	10273	HP:0001337	Tremor
OMIM:615768	STUB1	10273	HP:0001272	Cerebellar atrophy
OMIM:615768	STUB1	10273	HP:0002078	Truncal ataxia
OMIM:615768	STUB1	10273	HP:0002317	Unsteady gait
OMIM:223000	LCT	3938	HP:0000007	Autosomal recessive inheritance
OMIM:223000	LCT	3938	HP:0001942	Metabolic acidosis
OMIM:223000	LCT	3938	HP:0001944	Dehydration
OMIM:223000	LCT	3938	HP:0002014	Diarrhea
OMIM:301040	ATRX	546	HP:0008897	Postnatal growth retardation
OMIM:301040	ATRX	546	HP:0000077	Abnormality of the kidney
OMIM:301040	ATRX	546	HP:0001762	Talipes equinovarus
OMIM:301040	ATRX	546	HP:0002751	Kyphoscoliosis
OMIM:301040	ATRX	546	HP:0000316	Hypertelorism
OMIM:301040	ATRX	546	HP:0000505	Visual impairment
OMIM:301040	ATRX	546	HP:0002020	Gastroesophageal reflux
OMIM:301040	ATRX	546	HP:0000028	Cryptorchidism
OMIM:301040	ATRX	546	HP:0000272	Malar flattening
OMIM:301040	ATRX	546	HP:0002019	Constipation
OMIM:301040	ATRX	546	HP:0000252	Microcephaly
OMIM:301040	ATRX	546	HP:0001257	Spasticity
OMIM:301040	ATRX	546	HP:0002167	Neurological speech impairment
OMIM:301040	ATRX	546	HP:0008872	Feeding difficulties in infancy
OMIM:301040	ATRX	546	HP:0001883	Talipes
OMIM:301040	ATRX	546	HP:0001156	Brachydactyly syndrome
OMIM:301040	ATRX	546	HP:0000286	Epicanthus
OMIM:301040	ATRX	546	HP:0000232	Everted lower lip vermilion
OMIM:301040	ATRX	546	HP:0000062	Ambiguous genitalia
OMIM:301040	ATRX	546	HP:0010808	Protruding tongue
OMIM:301040	ATRX	546	HP:0002251	Aganglionic megacolon
OMIM:301040	ATRX	546	HP:0100543	Cognitive impairment
OMIM:301040	ATRX	546	HP:0004322	Short stature
OMIM:301040	ATRX	546	HP:0000407	Sensorineural hearing impairment
OMIM:301040	ATRX	546	HP:0000158	Macroglossia
OMIM:301040	ATRX	546	HP:0000126	Hydronephrosis
OMIM:301040	ATRX	546	HP:0001250	Seizures
OMIM:301040	ATRX	546	HP:0000104	Renal agenesis
OMIM:301040	ATRX	546	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:301040	ATRX	546	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:301040	ATRX	546	HP:0000717	Autism
OMIM:301040	ATRX	546	HP:0004209	Clinodactyly of the 5th finger
OMIM:301040	ATRX	546	HP:0100022	Abnormality of movement
OMIM:301040	ATRX	546	HP:0000157	Abnormality of the tongue
OMIM:301040	ATRX	546	HP:0001252	Muscular hypotonia
OMIM:301040	ATRX	546	HP:0002937	Hemivertebrae
OMIM:301040	ATRX	546	HP:0030084	Clinodactyly
OMIM:301040	ATRX	546	HP:0003196	Short nose
OMIM:301040	ATRX	546	HP:0001263	Global developmental delay
OMIM:301040	ATRX	546	HP:0000463	Anteverted nares
OMIM:301040	ATRX	546	HP:0000506	Telecanthus
OMIM:301040	ATRX	546	HP:0001249	Intellectual disability
OMIM:301040	ATRX	546	HP:0002673	Coxa valga
OMIM:301040	ATRX	546	HP:0001423	X-linked dominant inheritance
OMIM:301040	ATRX	546	HP:0100716	Self-injurious behavior
OMIM:301040	ATRX	546	HP:0002017	Nausea and vomiting
OMIM:301040	ATRX	546	HP:0000164	Abnormality of the teeth
OMIM:301040	ATRX	546	HP:0000545	Myopia
OMIM:301040	ATRX	546	HP:0000457	Depressed nasal ridge
OMIM:301040	ATRX	546	HP:0001376	Limitation of joint mobility
OMIM:301040	ATRX	546	HP:0001537	Umbilical hernia
OMIM:301040	ATRX	546	HP:0008551	Microtia
OMIM:301040	ATRX	546	HP:0000648	Optic atrophy
OMIM:301040	ATRX	546	HP:0000010	Recurrent urinary tract infections
OMIM:301040	ATRX	546	HP:0005280	Depressed nasal bridge
OMIM:301040	ATRX	546	HP:0000369	Low-set ears
OMIM:301040	ATRX	546	HP:0000179	Thick lower lip vermilion
OMIM:301040	ATRX	546	HP:0010806	U-Shaped upper lip vermilion
OMIM:301040	ATRX	546	HP:0002383	Encephalitis
OMIM:301040	ATRX	546	HP:0004374	Hemiplegia/hemiparesis
OMIM:301040	ATRX	546	HP:0002059	Cerebral atrophy
OMIM:301040	ATRX	546	HP:0002120	Cerebral cortical atrophy
OMIM:301040	ATRX	546	HP:0000358	Posteriorly rotated ears
OMIM:301040	ATRX	546	HP:0000037	Male pseudohermaphroditism
OMIM:301040	ATRX	546	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:301040	ATRX	546	HP:0008736	Hypoplasia of penis
OMIM:301040	ATRX	546	HP:0000054	Micropenis
OMIM:301040	ATRX	546	HP:0001182	Tapered finger
OMIM:301040	ATRX	546	HP:0001371	Flexion contracture
OMIM:301040	ATRX	546	HP:0003812	Phenotypic variability
OMIM:301040	ATRX	546	HP:0009466	Radial deviation of finger
OMIM:301040	ATRX	546	HP:0011682	Perimembranous ventricular septal defect
OMIM:301040	ATRX	546	HP:0000047	Hypospadias
OMIM:301040	ATRX	546	HP:0000049	Shawl scrotum
OMIM:116300	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:116300	CRYBA2	1412	HP:0007657	Diffuse nuclear cataract
OMIM:116300	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:116300	CRYBB1	1414	HP:0007657	Diffuse nuclear cataract
OMIM:116300	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:116300	AGK	55750	HP:0007657	Diffuse nuclear cataract
OMIM:116300	VIM	7431	HP:0000006	Autosomal dominant inheritance
OMIM:116300	VIM	7431	HP:0007657	Diffuse nuclear cataract
OMIM:116300	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:116300	CRYBB2	1415	HP:0007657	Diffuse nuclear cataract
OMIM:116300	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:116300	GCNT2	2651	HP:0007657	Diffuse nuclear cataract
OMIM:116300	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:116300	CRYGC	1420	HP:0007657	Diffuse nuclear cataract
OMIM:116300	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:116300	GJA3	2700	HP:0007657	Diffuse nuclear cataract
OMIM:116300	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:116300	CRYGD	1421	HP:0007657	Diffuse nuclear cataract
OMIM:116300	MAF	4094	HP:0000006	Autosomal dominant inheritance
OMIM:116300	MAF	4094	HP:0007657	Diffuse nuclear cataract
OMIM:116300	LIM2	3982	HP:0000006	Autosomal dominant inheritance
OMIM:116300	LIM2	3982	HP:0007657	Diffuse nuclear cataract
OMIM:116300	GJA8	2703	HP:0000006	Autosomal dominant inheritance
OMIM:116300	GJA8	2703	HP:0007657	Diffuse nuclear cataract
OMIM:607475	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:607475	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:607475	RLBP1	6017	HP:0000608	Macular degeneration
OMIM:607475	RLBP1	6017	HP:0000512	Abnormal electroretinogram
OMIM:607475	RLBP1	6017	HP:0000556	Retinal dystrophy
OMIM:164200	GJA1	2697	HP:0000252	Microcephaly
OMIM:164200	GJA1	2697	HP:0004220	Short middle phalanx of the 5th finger
OMIM:164200	GJA1	2697	HP:0000204	Cleft upper lip
OMIM:164200	GJA1	2697	HP:0001592	Selective tooth agenesis
OMIM:164200	GJA1	2697	HP:0001250	Seizures
OMIM:164200	GJA1	2697	HP:0000006	Autosomal dominant inheritance
OMIM:164200	GJA1	2697	HP:0002827	Hip dislocation
OMIM:164200	GJA1	2697	HP:0002967	Cubitus valgus
OMIM:164200	GJA1	2697	HP:0012745	Short palpebral fissure
OMIM:164200	GJA1	2697	HP:0006297	Hypoplasia of dental enamel
OMIM:164200	GJA1	2697	HP:0000679	Taurodontia
OMIM:164200	GJA1	2697	HP:0000175	Cleft palate
OMIM:164200	GJA1	2697	HP:0000581	Blepharophimosis
OMIM:164200	GJA1	2697	HP:0000482	Microcornea
OMIM:164200	GJA1	2697	HP:0000430	Underdeveloped nasal alae
OMIM:164200	GJA1	2697	HP:0000568	Microphthalmia
OMIM:164200	GJA1	2697	HP:0006801	Hyperactive deep tendon reflexes
OMIM:164200	GJA1	2697	HP:0001260	Dysarthria
OMIM:164200	GJA1	2697	HP:0002385	Paraparesis
OMIM:164200	GJA1	2697	HP:0000691	Microdontia
OMIM:164200	GJA1	2697	HP:0001249	Intellectual disability
OMIM:164200	GJA1	2697	HP:0002135	Basal ganglia calcification
OMIM:164200	GJA1	2697	HP:0002217	Slow-growing hair
OMIM:164200	GJA1	2697	HP:0000405	Conductive hearing impairment
OMIM:164200	GJA1	2697	HP:0002213	Fine hair
OMIM:164200	GJA1	2697	HP:0000670	Carious teeth
OMIM:164200	GJA1	2697	HP:0000501	Glaucoma
OMIM:164200	GJA1	2697	HP:0011675	Arrhythmia
OMIM:164200	GJA1	2697	HP:0000377	Abnormality of the pinna
OMIM:164200	GJA1	2697	HP:0008070	Sparse hair
OMIM:164200	GJA1	2697	HP:0002500	Abnormality of the cerebral white matter
OMIM:164200	GJA1	2697	HP:0030084	Clinodactyly
OMIM:164200	GJA1	2697	HP:0001251	Ataxia
OMIM:164200	GJA1	2697	HP:0001257	Spasticity
OMIM:164200	GJA1	2697	HP:0000518	Cataract
OMIM:164200	GJA1	2697	HP:0000286	Epicanthus
OMIM:164200	GJA1	2697	HP:0000446	Narrow nasal bridge
OMIM:164200	GJA1	2697	HP:0001631	Atria septal defect
OMIM:612713	SRD5A3	79644	HP:0000414	Bulbous nose
OMIM:612713	SRD5A3	79644	HP:0006380	Knee flexion contracture
OMIM:612713	SRD5A3	79644	HP:0000007	Autosomal recessive inheritance
OMIM:612713	SRD5A3	79644	HP:0000431	Wide nasal bridge
OMIM:612713	SRD5A3	79644	HP:0006887	Intellectual disability, progressive
OMIM:612713	SRD5A3	79644	HP:0002987	Elbow flexion contracture
OMIM:612713	SRD5A3	79644	HP:0000612	Iris coloboma
OMIM:612713	SRD5A3	79644	HP:0001270	Motor delay
OMIM:612713	SRD5A3	79644	HP:0000179	Thick lower lip vermilion
OMIM:612713	SRD5A3	79644	HP:0000518	Cataract
OMIM:612713	SRD5A3	79644	HP:0010864	Intellectual disability, severe
ORPHANET:250984	COL9A1	1297	HP:0000505	Visual impairment
ORPHANET:250984	COL9A1	1297	HP:0002857	Genu valgum
ORPHANET:250984	COL9A1	1297	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:250984	COL9A1	1297	HP:0001382	Joint hypermobility
ORPHANET:250984	COL9A1	1297	HP:0004327	Abnormality of the vitreous humor
ORPHANET:250984	COL9A1	1297	HP:0002652	Skeletal dysplasia
ORPHANET:250984	COL9A1	1297	HP:0000407	Sensorineural hearing impairment
ORPHANET:250984	COL9A1	1297	HP:0004322	Short stature
ORPHANET:250984	COL9A1	1297	HP:0000272	Malar flattening
ORPHANET:250984	COL9A1	1297	HP:0000483	Astigmatism
ORPHANET:250984	COL9A1	1297	HP:0000926	Platyspondyly
ORPHANET:250984	COL9A1	1297	HP:0000545	Myopia
ORPHANET:250984	COL9A1	1297	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:250984	COL9A1	1297	HP:0000488	Retinopathy
ORPHANET:250984	COL9A2	1298	HP:0000505	Visual impairment
ORPHANET:250984	COL9A2	1298	HP:0002857	Genu valgum
ORPHANET:250984	COL9A2	1298	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:250984	COL9A2	1298	HP:0001382	Joint hypermobility
ORPHANET:250984	COL9A2	1298	HP:0004327	Abnormality of the vitreous humor
ORPHANET:250984	COL9A2	1298	HP:0002652	Skeletal dysplasia
ORPHANET:250984	COL9A2	1298	HP:0000407	Sensorineural hearing impairment
ORPHANET:250984	COL9A2	1298	HP:0004322	Short stature
ORPHANET:250984	COL9A2	1298	HP:0000272	Malar flattening
ORPHANET:250984	COL9A2	1298	HP:0000483	Astigmatism
ORPHANET:250984	COL9A2	1298	HP:0000926	Platyspondyly
ORPHANET:250984	COL9A2	1298	HP:0000545	Myopia
ORPHANET:250984	COL9A2	1298	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:250984	COL9A2	1298	HP:0000488	Retinopathy
ORPHANET:250984	COL9A3	1299	HP:0000505	Visual impairment
ORPHANET:250984	COL9A3	1299	HP:0002857	Genu valgum
ORPHANET:250984	COL9A3	1299	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:250984	COL9A3	1299	HP:0001382	Joint hypermobility
ORPHANET:250984	COL9A3	1299	HP:0004327	Abnormality of the vitreous humor
ORPHANET:250984	COL9A3	1299	HP:0002652	Skeletal dysplasia
ORPHANET:250984	COL9A3	1299	HP:0000407	Sensorineural hearing impairment
ORPHANET:250984	COL9A3	1299	HP:0004322	Short stature
ORPHANET:250984	COL9A3	1299	HP:0000272	Malar flattening
ORPHANET:250984	COL9A3	1299	HP:0000483	Astigmatism
ORPHANET:250984	COL9A3	1299	HP:0000926	Platyspondyly
ORPHANET:250984	COL9A3	1299	HP:0000545	Myopia
ORPHANET:250984	COL9A3	1299	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:250984	COL9A3	1299	HP:0000488	Retinopathy
ORPHANET:250984	COL11A1	1301	HP:0000505	Visual impairment
ORPHANET:250984	COL11A1	1301	HP:0002857	Genu valgum
ORPHANET:250984	COL11A1	1301	HP:0005930	Abnormality of epiphysis morphology
ORPHANET:250984	COL11A1	1301	HP:0001382	Joint hypermobility
ORPHANET:250984	COL11A1	1301	HP:0004327	Abnormality of the vitreous humor
ORPHANET:250984	COL11A1	1301	HP:0002652	Skeletal dysplasia
ORPHANET:250984	COL11A1	1301	HP:0000407	Sensorineural hearing impairment
ORPHANET:250984	COL11A1	1301	HP:0004322	Short stature
ORPHANET:250984	COL11A1	1301	HP:0000272	Malar flattening
ORPHANET:250984	COL11A1	1301	HP:0000483	Astigmatism
ORPHANET:250984	COL11A1	1301	HP:0000926	Platyspondyly
ORPHANET:250984	COL11A1	1301	HP:0000545	Myopia
ORPHANET:250984	COL11A1	1301	HP:0007703	Abnormality of retinal pigmentation
ORPHANET:250984	COL11A1	1301	HP:0000488	Retinopathy
OMIM:614052	TMEM70	54968	HP:0000431	Wide nasal bridge
OMIM:614052	TMEM70	54968	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:614052	TMEM70	54968	HP:0000154	Wide mouth
OMIM:614052	TMEM70	54968	HP:0001251	Ataxia
OMIM:614052	TMEM70	54968	HP:0000047	Hypospadias
OMIM:614052	TMEM70	54968	HP:0001987	Hyperammonemia
OMIM:614052	TMEM70	54968	HP:0001250	Seizures
OMIM:614052	TMEM70	54968	HP:0100543	Cognitive impairment
OMIM:614052	TMEM70	54968	HP:0000077	Abnormality of the kidney
OMIM:614052	TMEM70	54968	HP:0011675	Arrhythmia
OMIM:614052	TMEM70	54968	HP:0000028	Cryptorchidism
OMIM:614052	TMEM70	54968	HP:0001641	Abnormality of the pulmonary valve
OMIM:614052	TMEM70	54968	HP:0000308	Microretrognathia
OMIM:614052	TMEM70	54968	HP:0000368	Low-set, posteriorly rotated ears
OMIM:614052	TMEM70	54968	HP:0002383	Encephalitis
OMIM:614052	TMEM70	54968	HP:0000322	Short philtrum
OMIM:614052	TMEM70	54968	HP:0002093	Respiratory insufficiency
OMIM:614052	TMEM70	54968	HP:0001622	Premature birth
OMIM:614052	TMEM70	54968	HP:0000023	Inguinal hernia
OMIM:614052	TMEM70	54968	HP:0001562	Oligohydramnios
OMIM:614052	TMEM70	54968	HP:0000007	Autosomal recessive inheritance
OMIM:614052	TMEM70	54968	HP:0001635	Congestive heart failure
OMIM:614052	TMEM70	54968	HP:0000347	Micrognathia
OMIM:614052	TMEM70	54968	HP:0001508	Failure to thrive
OMIM:614052	TMEM70	54968	HP:0000252	Microcephaly
OMIM:614052	TMEM70	54968	HP:0100627	Displacement of the external urethral meatus
OMIM:614052	TMEM70	54968	HP:0003577	Congenital onset
OMIM:614052	TMEM70	54968	HP:0003128	Lactic acidosis
OMIM:614052	TMEM70	54968	HP:0005469	Flat occiput
OMIM:614052	TMEM70	54968	HP:0000369	Low-set ears
OMIM:614052	TMEM70	54968	HP:0001298	Encephalopathy
OMIM:614052	TMEM70	54968	HP:0001537	Umbilical hernia
OMIM:614052	TMEM70	54968	HP:0001263	Global developmental delay
OMIM:614052	TMEM70	54968	HP:0002120	Cerebral cortical atrophy
OMIM:614052	TMEM70	54968	HP:0001518	Small for gestational age
OMIM:614052	TMEM70	54968	HP:0001252	Muscular hypotonia
OMIM:614052	TMEM70	54968	HP:0001511	Intrauterine growth retardation
OMIM:614052	TMEM70	54968	HP:0100490	Camptodactyly of finger
OMIM:614052	TMEM70	54968	HP:0002240	Hepatomegaly
OMIM:614052	TMEM70	54968	HP:0002151	Increased serum lactate
OMIM:614052	TMEM70	54968	HP:0001337	Tremor
OMIM:614052	TMEM70	54968	HP:0012368	Flat face
OMIM:614052	TMEM70	54968	HP:0000518	Cataract
OMIM:614052	TMEM70	54968	HP:0000343	Long philtrum
OMIM:614052	TMEM70	54968	HP:0001639	Hypertrophic cardiomyopathy
OMIM:614052	TMEM70	54968	HP:0001646	Abnormality of the aortic valve
OMIM:614052	TMEM70	54968	HP:0002352	Leukoencephalopathy
OMIM:606835	TRPV4	59341	HP:0000006	Autosomal dominant inheritance
OMIM:606835	TRPV4	59341	HP:0005819	Short middle phalanx of finger
OMIM:606835	TRPV4	59341	HP:0009882	Short distal phalanx of finger
OMIM:606835	TRPV4	59341	HP:0001156	Brachydactyly syndrome
OMIM:606835	TRPV4	59341	HP:0009466	Radial deviation of finger
OMIM:606835	TRPV4	59341	HP:0003621	Juvenile onset
OMIM:613216	SLC24A1	9187	HP:0000545	Myopia
OMIM:613216	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:613216	SLC24A1	9187	HP:0000958	Dry skin
OMIM:613216	SLC24A1	9187	HP:0007663	Reduced visual acuity
OMIM:613216	SLC24A1	9187	HP:0000512	Abnormal electroretinogram
OMIM:613216	SLC24A1	9187	HP:0000964	Eczema
OMIM:613216	SLC24A1	9187	HP:0000639	Nystagmus
OMIM:613216	GRM6	2916	HP:0000545	Myopia
OMIM:613216	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:613216	GRM6	2916	HP:0000958	Dry skin
OMIM:613216	GRM6	2916	HP:0007663	Reduced visual acuity
OMIM:613216	GRM6	2916	HP:0000512	Abnormal electroretinogram
OMIM:613216	GRM6	2916	HP:0000964	Eczema
OMIM:613216	GRM6	2916	HP:0000639	Nystagmus
OMIM:613216	PDE6B	5158	HP:0000545	Myopia
OMIM:613216	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:613216	PDE6B	5158	HP:0000958	Dry skin
OMIM:613216	PDE6B	5158	HP:0007663	Reduced visual acuity
OMIM:613216	PDE6B	5158	HP:0000512	Abnormal electroretinogram
OMIM:613216	PDE6B	5158	HP:0000964	Eczema
OMIM:613216	PDE6B	5158	HP:0000639	Nystagmus
OMIM:613216	CACNA1F	778	HP:0000545	Myopia
OMIM:613216	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:613216	CACNA1F	778	HP:0000958	Dry skin
OMIM:613216	CACNA1F	778	HP:0007663	Reduced visual acuity
OMIM:613216	CACNA1F	778	HP:0000512	Abnormal electroretinogram
OMIM:613216	CACNA1F	778	HP:0000964	Eczema
OMIM:613216	CACNA1F	778	HP:0000639	Nystagmus
OMIM:613216	LRIT3	345193	HP:0000545	Myopia
OMIM:613216	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:613216	LRIT3	345193	HP:0000958	Dry skin
OMIM:613216	LRIT3	345193	HP:0007663	Reduced visual acuity
OMIM:613216	LRIT3	345193	HP:0000512	Abnormal electroretinogram
OMIM:613216	LRIT3	345193	HP:0000964	Eczema
OMIM:613216	LRIT3	345193	HP:0000639	Nystagmus
OMIM:613216	CABP4	57010	HP:0000545	Myopia
OMIM:613216	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:613216	CABP4	57010	HP:0000958	Dry skin
OMIM:613216	CABP4	57010	HP:0007663	Reduced visual acuity
OMIM:613216	CABP4	57010	HP:0000512	Abnormal electroretinogram
OMIM:613216	CABP4	57010	HP:0000964	Eczema
OMIM:613216	CABP4	57010	HP:0000639	Nystagmus
OMIM:613216	TRPM1	4308	HP:0000545	Myopia
OMIM:613216	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:613216	TRPM1	4308	HP:0000958	Dry skin
OMIM:613216	TRPM1	4308	HP:0007663	Reduced visual acuity
OMIM:613216	TRPM1	4308	HP:0000512	Abnormal electroretinogram
OMIM:613216	TRPM1	4308	HP:0000964	Eczema
OMIM:613216	TRPM1	4308	HP:0000639	Nystagmus
OMIM:613216	CACNA2D4	93589	HP:0000545	Myopia
OMIM:613216	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:613216	CACNA2D4	93589	HP:0000958	Dry skin
OMIM:613216	CACNA2D4	93589	HP:0007663	Reduced visual acuity
OMIM:613216	CACNA2D4	93589	HP:0000512	Abnormal electroretinogram
OMIM:613216	CACNA2D4	93589	HP:0000964	Eczema
OMIM:613216	CACNA2D4	93589	HP:0000639	Nystagmus
OMIM:613216	GPR179	440435	HP:0000545	Myopia
OMIM:613216	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:613216	GPR179	440435	HP:0000958	Dry skin
OMIM:613216	GPR179	440435	HP:0007663	Reduced visual acuity
OMIM:613216	GPR179	440435	HP:0000512	Abnormal electroretinogram
OMIM:613216	GPR179	440435	HP:0000964	Eczema
OMIM:613216	GPR179	440435	HP:0000639	Nystagmus
OMIM:613216	SAG	6295	HP:0000545	Myopia
OMIM:613216	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:613216	SAG	6295	HP:0000958	Dry skin
OMIM:613216	SAG	6295	HP:0007663	Reduced visual acuity
OMIM:613216	SAG	6295	HP:0000512	Abnormal electroretinogram
OMIM:613216	SAG	6295	HP:0000964	Eczema
OMIM:613216	SAG	6295	HP:0000639	Nystagmus
OMIM:613216	RHO	6010	HP:0000545	Myopia
OMIM:613216	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:613216	RHO	6010	HP:0000958	Dry skin
OMIM:613216	RHO	6010	HP:0007663	Reduced visual acuity
OMIM:613216	RHO	6010	HP:0000512	Abnormal electroretinogram
OMIM:613216	RHO	6010	HP:0000964	Eczema
OMIM:613216	RHO	6010	HP:0000639	Nystagmus
OMIM:613216	NYX	60506	HP:0000545	Myopia
OMIM:613216	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:613216	NYX	60506	HP:0000958	Dry skin
OMIM:613216	NYX	60506	HP:0007663	Reduced visual acuity
OMIM:613216	NYX	60506	HP:0000512	Abnormal electroretinogram
OMIM:613216	NYX	60506	HP:0000964	Eczema
OMIM:613216	NYX	60506	HP:0000639	Nystagmus
OMIM:613216	GNAT1	2779	HP:0000545	Myopia
OMIM:613216	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:613216	GNAT1	2779	HP:0000958	Dry skin
OMIM:613216	GNAT1	2779	HP:0007663	Reduced visual acuity
OMIM:613216	GNAT1	2779	HP:0000512	Abnormal electroretinogram
OMIM:613216	GNAT1	2779	HP:0000964	Eczema
OMIM:613216	GNAT1	2779	HP:0000639	Nystagmus
OMIM:613216	GRK1	6011	HP:0000545	Myopia
OMIM:613216	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:613216	GRK1	6011	HP:0000958	Dry skin
OMIM:613216	GRK1	6011	HP:0007663	Reduced visual acuity
OMIM:613216	GRK1	6011	HP:0000512	Abnormal electroretinogram
OMIM:613216	GRK1	6011	HP:0000964	Eczema
OMIM:613216	GRK1	6011	HP:0000639	Nystagmus
OMIM:277380	LMBRD1	55788	HP:0001876	Pancytopenia
OMIM:277380	LMBRD1	55788	HP:0010280	Stomatitis
OMIM:277380	LMBRD1	55788	HP:0000163	Abnormality of the oral cavity
OMIM:277380	LMBRD1	55788	HP:0002912	Methylmalonic acidemia
OMIM:277380	LMBRD1	55788	HP:0000988	Skin rash
OMIM:277380	LMBRD1	55788	HP:0008872	Feeding difficulties in infancy
OMIM:277380	LMBRD1	55788	HP:0001252	Muscular hypotonia
OMIM:277380	LMBRD1	55788	HP:0000007	Autosomal recessive inheritance
OMIM:277380	LMBRD1	55788	HP:0000369	Low-set ears
OMIM:277380	LMBRD1	55788	HP:0004372	Reduced consciousness/confusion
OMIM:277380	LMBRD1	55788	HP:0001508	Failure to thrive
OMIM:277380	LMBRD1	55788	HP:0002311	Incoordination
OMIM:277380	LMBRD1	55788	HP:0001889	Megaloblastic anemia
OMIM:277380	LMBRD1	55788	HP:0001875	Neutropenia
OMIM:277380	LMBRD1	55788	HP:0000218	High palate
OMIM:277380	LMBRD1	55788	HP:0008551	Microtia
OMIM:277380	LMBRD1	55788	HP:0001873	Thrombocytopenia
OMIM:277380	LMBRD1	55788	HP:0000219	Thin upper lip vermilion
OMIM:277380	LMBRD1	55788	HP:0001263	Global developmental delay
OMIM:277380	LMBRD1	55788	HP:0001250	Seizures
OMIM:277380	LMBRD1	55788	HP:0002376	Developmental regression
OMIM:277380	LMBRD1	55788	HP:0000286	Epicanthus
OMIM:277380	LMBRD1	55788	HP:0001254	Lethargy
OMIM:277380	LMBRD1	55788	HP:0012120	Methylmalonic aciduria
OMIM:277380	LMBRD1	55788	HP:0000708	Behavioral abnormality
OMIM:277380	LMBRD1	55788	HP:0003593	Infantile onset
OMIM:616559	RIT1	6016	HP:0002212	Curly hair
OMIM:616559	RIT1	6016	HP:0001680	Coarctation of aorta
OMIM:616559	RIT1	6016	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	RIT1	6016	HP:0000535	Sparse eyebrow
OMIM:616559	RIT1	6016	HP:0000494	Downslanted palpebral fissures
OMIM:616559	RIT1	6016	HP:0004322	Short stature
OMIM:616559	RIT1	6016	HP:0000470	Short neck
OMIM:616559	RIT1	6016	HP:0001642	Pulmonic stenosis
OMIM:616559	RIT1	6016	HP:0000028	Cryptorchidism
OMIM:616559	RIT1	6016	HP:0001263	Global developmental delay
OMIM:616559	RIT1	6016	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	RIT1	6016	HP:0000465	Webbed neck
OMIM:616559	RIT1	6016	HP:0000316	Hypertelorism
OMIM:616559	RIT1	6016	HP:0000508	Ptosis
OMIM:616559	BRAF	673	HP:0002212	Curly hair
OMIM:616559	BRAF	673	HP:0001680	Coarctation of aorta
OMIM:616559	BRAF	673	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	BRAF	673	HP:0000535	Sparse eyebrow
OMIM:616559	BRAF	673	HP:0000494	Downslanted palpebral fissures
OMIM:616559	BRAF	673	HP:0004322	Short stature
OMIM:616559	BRAF	673	HP:0000470	Short neck
OMIM:616559	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:616559	BRAF	673	HP:0000028	Cryptorchidism
OMIM:616559	BRAF	673	HP:0001263	Global developmental delay
OMIM:616559	BRAF	673	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	BRAF	673	HP:0000465	Webbed neck
OMIM:616559	BRAF	673	HP:0000316	Hypertelorism
OMIM:616559	BRAF	673	HP:0000508	Ptosis
OMIM:616559	KAT6B	23522	HP:0002212	Curly hair
OMIM:616559	KAT6B	23522	HP:0001680	Coarctation of aorta
OMIM:616559	KAT6B	23522	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	KAT6B	23522	HP:0000535	Sparse eyebrow
OMIM:616559	KAT6B	23522	HP:0000494	Downslanted palpebral fissures
OMIM:616559	KAT6B	23522	HP:0004322	Short stature
OMIM:616559	KAT6B	23522	HP:0000470	Short neck
OMIM:616559	KAT6B	23522	HP:0001642	Pulmonic stenosis
OMIM:616559	KAT6B	23522	HP:0000028	Cryptorchidism
OMIM:616559	KAT6B	23522	HP:0001263	Global developmental delay
OMIM:616559	KAT6B	23522	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	KAT6B	23522	HP:0000465	Webbed neck
OMIM:616559	KAT6B	23522	HP:0000316	Hypertelorism
OMIM:616559	KAT6B	23522	HP:0000508	Ptosis
OMIM:616559	RASA2	5922	HP:0002212	Curly hair
OMIM:616559	RASA2	5922	HP:0001680	Coarctation of aorta
OMIM:616559	RASA2	5922	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	RASA2	5922	HP:0000535	Sparse eyebrow
OMIM:616559	RASA2	5922	HP:0000494	Downslanted palpebral fissures
OMIM:616559	RASA2	5922	HP:0004322	Short stature
OMIM:616559	RASA2	5922	HP:0000470	Short neck
OMIM:616559	RASA2	5922	HP:0001642	Pulmonic stenosis
OMIM:616559	RASA2	5922	HP:0000028	Cryptorchidism
OMIM:616559	RASA2	5922	HP:0001263	Global developmental delay
OMIM:616559	RASA2	5922	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	RASA2	5922	HP:0000465	Webbed neck
OMIM:616559	RASA2	5922	HP:0000316	Hypertelorism
OMIM:616559	RASA2	5922	HP:0000508	Ptosis
OMIM:616559	PTPN11	5781	HP:0002212	Curly hair
OMIM:616559	PTPN11	5781	HP:0001680	Coarctation of aorta
OMIM:616559	PTPN11	5781	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	PTPN11	5781	HP:0000535	Sparse eyebrow
OMIM:616559	PTPN11	5781	HP:0000494	Downslanted palpebral fissures
OMIM:616559	PTPN11	5781	HP:0004322	Short stature
OMIM:616559	PTPN11	5781	HP:0000470	Short neck
OMIM:616559	PTPN11	5781	HP:0001642	Pulmonic stenosis
OMIM:616559	PTPN11	5781	HP:0000028	Cryptorchidism
OMIM:616559	PTPN11	5781	HP:0001263	Global developmental delay
OMIM:616559	PTPN11	5781	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	PTPN11	5781	HP:0000465	Webbed neck
OMIM:616559	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:616559	PTPN11	5781	HP:0000508	Ptosis
OMIM:616559	KRAS	3845	HP:0002212	Curly hair
OMIM:616559	KRAS	3845	HP:0001680	Coarctation of aorta
OMIM:616559	KRAS	3845	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	KRAS	3845	HP:0000535	Sparse eyebrow
OMIM:616559	KRAS	3845	HP:0000494	Downslanted palpebral fissures
OMIM:616559	KRAS	3845	HP:0004322	Short stature
OMIM:616559	KRAS	3845	HP:0000470	Short neck
OMIM:616559	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:616559	KRAS	3845	HP:0000028	Cryptorchidism
OMIM:616559	KRAS	3845	HP:0001263	Global developmental delay
OMIM:616559	KRAS	3845	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	KRAS	3845	HP:0000465	Webbed neck
OMIM:616559	KRAS	3845	HP:0000316	Hypertelorism
OMIM:616559	KRAS	3845	HP:0000508	Ptosis
OMIM:616559	RAF1	5894	HP:0002212	Curly hair
OMIM:616559	RAF1	5894	HP:0001680	Coarctation of aorta
OMIM:616559	RAF1	5894	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	RAF1	5894	HP:0000535	Sparse eyebrow
OMIM:616559	RAF1	5894	HP:0000494	Downslanted palpebral fissures
OMIM:616559	RAF1	5894	HP:0004322	Short stature
OMIM:616559	RAF1	5894	HP:0000470	Short neck
OMIM:616559	RAF1	5894	HP:0001642	Pulmonic stenosis
OMIM:616559	RAF1	5894	HP:0000028	Cryptorchidism
OMIM:616559	RAF1	5894	HP:0001263	Global developmental delay
OMIM:616559	RAF1	5894	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	RAF1	5894	HP:0000465	Webbed neck
OMIM:616559	RAF1	5894	HP:0000316	Hypertelorism
OMIM:616559	RAF1	5894	HP:0000508	Ptosis
OMIM:616559	LZTR1	8216	HP:0002212	Curly hair
OMIM:616559	LZTR1	8216	HP:0001680	Coarctation of aorta
OMIM:616559	LZTR1	8216	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	LZTR1	8216	HP:0000535	Sparse eyebrow
OMIM:616559	LZTR1	8216	HP:0000494	Downslanted palpebral fissures
OMIM:616559	LZTR1	8216	HP:0004322	Short stature
OMIM:616559	LZTR1	8216	HP:0000470	Short neck
OMIM:616559	LZTR1	8216	HP:0001642	Pulmonic stenosis
OMIM:616559	LZTR1	8216	HP:0000028	Cryptorchidism
OMIM:616559	LZTR1	8216	HP:0001263	Global developmental delay
OMIM:616559	LZTR1	8216	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	LZTR1	8216	HP:0000465	Webbed neck
OMIM:616559	LZTR1	8216	HP:0000316	Hypertelorism
OMIM:616559	LZTR1	8216	HP:0000508	Ptosis
OMIM:616559	A2ML1	144568	HP:0002212	Curly hair
OMIM:616559	A2ML1	144568	HP:0001680	Coarctation of aorta
OMIM:616559	A2ML1	144568	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	A2ML1	144568	HP:0000535	Sparse eyebrow
OMIM:616559	A2ML1	144568	HP:0000494	Downslanted palpebral fissures
OMIM:616559	A2ML1	144568	HP:0004322	Short stature
OMIM:616559	A2ML1	144568	HP:0000470	Short neck
OMIM:616559	A2ML1	144568	HP:0001642	Pulmonic stenosis
OMIM:616559	A2ML1	144568	HP:0000028	Cryptorchidism
OMIM:616559	A2ML1	144568	HP:0001263	Global developmental delay
OMIM:616559	A2ML1	144568	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	A2ML1	144568	HP:0000465	Webbed neck
OMIM:616559	A2ML1	144568	HP:0000316	Hypertelorism
OMIM:616559	A2ML1	144568	HP:0000508	Ptosis
OMIM:616559	NRAS	4893	HP:0002212	Curly hair
OMIM:616559	NRAS	4893	HP:0001680	Coarctation of aorta
OMIM:616559	NRAS	4893	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	NRAS	4893	HP:0000535	Sparse eyebrow
OMIM:616559	NRAS	4893	HP:0000494	Downslanted palpebral fissures
OMIM:616559	NRAS	4893	HP:0004322	Short stature
OMIM:616559	NRAS	4893	HP:0000470	Short neck
OMIM:616559	NRAS	4893	HP:0001642	Pulmonic stenosis
OMIM:616559	NRAS	4893	HP:0000028	Cryptorchidism
OMIM:616559	NRAS	4893	HP:0001263	Global developmental delay
OMIM:616559	NRAS	4893	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	NRAS	4893	HP:0000465	Webbed neck
OMIM:616559	NRAS	4893	HP:0000316	Hypertelorism
OMIM:616559	NRAS	4893	HP:0000508	Ptosis
OMIM:616559	SOS1	6654	HP:0002212	Curly hair
OMIM:616559	SOS1	6654	HP:0001680	Coarctation of aorta
OMIM:616559	SOS1	6654	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	SOS1	6654	HP:0000535	Sparse eyebrow
OMIM:616559	SOS1	6654	HP:0000494	Downslanted palpebral fissures
OMIM:616559	SOS1	6654	HP:0004322	Short stature
OMIM:616559	SOS1	6654	HP:0000470	Short neck
OMIM:616559	SOS1	6654	HP:0001642	Pulmonic stenosis
OMIM:616559	SOS1	6654	HP:0000028	Cryptorchidism
OMIM:616559	SOS1	6654	HP:0001263	Global developmental delay
OMIM:616559	SOS1	6654	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	SOS1	6654	HP:0000465	Webbed neck
OMIM:616559	SOS1	6654	HP:0000316	Hypertelorism
OMIM:616559	SOS1	6654	HP:0000508	Ptosis
OMIM:616559	SOS2	6655	HP:0002212	Curly hair
OMIM:616559	SOS2	6655	HP:0001680	Coarctation of aorta
OMIM:616559	SOS2	6655	HP:0001671	Abnormality of the cardiac septa
OMIM:616559	SOS2	6655	HP:0000535	Sparse eyebrow
OMIM:616559	SOS2	6655	HP:0000494	Downslanted palpebral fissures
OMIM:616559	SOS2	6655	HP:0004322	Short stature
OMIM:616559	SOS2	6655	HP:0000470	Short neck
OMIM:616559	SOS2	6655	HP:0001642	Pulmonic stenosis
OMIM:616559	SOS2	6655	HP:0000028	Cryptorchidism
OMIM:616559	SOS2	6655	HP:0001263	Global developmental delay
OMIM:616559	SOS2	6655	HP:0040180	Hyperkeratosis pilaris
OMIM:616559	SOS2	6655	HP:0000465	Webbed neck
OMIM:616559	SOS2	6655	HP:0000316	Hypertelorism
OMIM:616559	SOS2	6655	HP:0000508	Ptosis
OMIM:613839	DHFR	1719	HP:0000007	Autosomal recessive inheritance
OMIM:613839	DHFR	1719	HP:0001251	Ataxia
OMIM:613839	DHFR	1719	HP:0001876	Pancytopenia
OMIM:613839	DHFR	1719	HP:0012448	Delayed myelination
OMIM:613839	DHFR	1719	HP:0005484	Postnatal microcephaly
OMIM:613839	DHFR	1719	HP:0000980	Pallor
OMIM:613839	DHFR	1719	HP:0001252	Muscular hypotonia
OMIM:613839	DHFR	1719	HP:0001889	Megaloblastic anemia
OMIM:613839	DHFR	1719	HP:0002121	Absence seizures
OMIM:613839	DHFR	1719	HP:0002240	Hepatomegaly
OMIM:613839	DHFR	1719	HP:0011968	Feeding difficulties
OMIM:613839	DHFR	1719	HP:0001873	Thrombocytopenia
OMIM:613839	DHFR	1719	HP:0002421	Poor head control
OMIM:613839	DHFR	1719	HP:0003828	Variable expressivity
OMIM:613839	DHFR	1719	HP:0001263	Global developmental delay
OMIM:613839	DHFR	1719	HP:0002059	Cerebral atrophy
OMIM:615139	POLE	5426	HP:0002205	Recurrent respiratory infections
OMIM:615139	POLE	5426	HP:0003577	Congenital onset
OMIM:615139	POLE	5426	HP:0004322	Short stature
OMIM:615139	POLE	5426	HP:0000007	Autosomal recessive inheritance
OMIM:615139	POLE	5426	HP:0002653	Bone pain
OMIM:615139	POLE	5426	HP:0000337	Broad forehead
OMIM:615139	POLE	5426	HP:0002721	Immunodeficiency
OMIM:615139	POLE	5426	HP:0004482	Relative macrocephaly
OMIM:615139	POLE	5426	HP:0000272	Malar flattening
OMIM:490000	ZFY	7544	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600059	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:600059	RLBP1	6017	HP:0000546	Retinal degeneration
OMIM:600059	RLBP1	6017	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:600059	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:600059	RLBP1	6017	HP:0011505	Cystoid macular edema
OMIM:600059	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:600059	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:600059	SPATA7	55812	HP:0000546	Retinal degeneration
OMIM:600059	SPATA7	55812	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:600059	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:600059	SPATA7	55812	HP:0011505	Cystoid macular edema
OMIM:600059	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:600059	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:600059	ARL6	84100	HP:0000546	Retinal degeneration
OMIM:600059	ARL6	84100	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:600059	ARL6	84100	HP:0000662	Nyctalopia
OMIM:600059	ARL6	84100	HP:0011505	Cystoid macular edema
OMIM:600059	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:600059	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:600059	CERKL	375298	HP:0000546	Retinal degeneration
OMIM:600059	CERKL	375298	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:600059	CERKL	375298	HP:0000662	Nyctalopia
OMIM:600059	CERKL	375298	HP:0011505	Cystoid macular edema
OMIM:600059	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:600059	PRPF31	26121	HP:0000546	Retinal degeneration
OMIM:600059	PRPF31	26121	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:600059	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:600059	PRPF31	26121	HP:0011505	Cystoid macular edema
OMIM:600059	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:600059	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:600059	TTC8	123016	HP:0000546	Retinal degeneration
OMIM:600059	TTC8	123016	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:600059	TTC8	123016	HP:0000662	Nyctalopia
OMIM:600059	TTC8	123016	HP:0011505	Cystoid macular edema
OMIM:600059	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:600059	PROM1	8842	HP:0000546	Retinal degeneration
OMIM:600059	PROM1	8842	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:600059	PROM1	8842	HP:0000662	Nyctalopia
OMIM:600059	PROM1	8842	HP:0011505	Cystoid macular edema
OMIM:600059	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:600059	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:600059	LRAT	9227	HP:0000546	Retinal degeneration
OMIM:600059	LRAT	9227	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:600059	LRAT	9227	HP:0000662	Nyctalopia
OMIM:600059	LRAT	9227	HP:0011505	Cystoid macular edema
OMIM:600059	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:600059	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:600059	IFT140	9742	HP:0000546	Retinal degeneration
OMIM:600059	IFT140	9742	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:600059	IFT140	9742	HP:0000662	Nyctalopia
OMIM:600059	IFT140	9742	HP:0011505	Cystoid macular edema
OMIM:600059	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:600059	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:600059	BEST1	7439	HP:0000546	Retinal degeneration
OMIM:600059	BEST1	7439	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:600059	BEST1	7439	HP:0000662	Nyctalopia
OMIM:600059	BEST1	7439	HP:0011505	Cystoid macular edema
OMIM:600059	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:600059	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:600059	NEK2	4751	HP:0000546	Retinal degeneration
OMIM:600059	NEK2	4751	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:600059	NEK2	4751	HP:0000662	Nyctalopia
OMIM:600059	NEK2	4751	HP:0011505	Cystoid macular edema
OMIM:600059	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:600059	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:600059	ARL2BP	23568	HP:0000546	Retinal degeneration
OMIM:600059	ARL2BP	23568	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:600059	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:600059	ARL2BP	23568	HP:0011505	Cystoid macular edema
OMIM:600059	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:600059	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:600059	NR2E3	10002	HP:0000546	Retinal degeneration
OMIM:600059	NR2E3	10002	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:600059	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:600059	NR2E3	10002	HP:0011505	Cystoid macular edema
OMIM:600059	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:600059	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:600059	EYS	346007	HP:0000546	Retinal degeneration
OMIM:600059	EYS	346007	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:600059	EYS	346007	HP:0000662	Nyctalopia
OMIM:600059	EYS	346007	HP:0011505	Cystoid macular edema
OMIM:600059	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:600059	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:600059	MAK	4117	HP:0000546	Retinal degeneration
OMIM:600059	MAK	4117	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:600059	MAK	4117	HP:0000662	Nyctalopia
OMIM:600059	MAK	4117	HP:0011505	Cystoid macular edema
OMIM:600059	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:600059	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:600059	SAG	6295	HP:0000546	Retinal degeneration
OMIM:600059	SAG	6295	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:600059	SAG	6295	HP:0000662	Nyctalopia
OMIM:600059	SAG	6295	HP:0011505	Cystoid macular edema
OMIM:600059	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:600059	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:600059	ABCA4	24	HP:0000546	Retinal degeneration
OMIM:600059	ABCA4	24	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:600059	ABCA4	24	HP:0000662	Nyctalopia
OMIM:600059	ABCA4	24	HP:0011505	Cystoid macular edema
OMIM:600059	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:600059	PDE6A	5145	HP:0000546	Retinal degeneration
OMIM:600059	PDE6A	5145	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:600059	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:600059	PDE6A	5145	HP:0011505	Cystoid macular edema
OMIM:600059	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:600059	PDE6G	5148	HP:0000546	Retinal degeneration
OMIM:600059	PDE6G	5148	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:600059	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:600059	PDE6G	5148	HP:0011505	Cystoid macular edema
OMIM:600059	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:600059	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:600059	IMPDH1	3614	HP:0000546	Retinal degeneration
OMIM:600059	IMPDH1	3614	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:600059	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:600059	IMPDH1	3614	HP:0011505	Cystoid macular edema
OMIM:600059	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:600059	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:600059	OFD1	8481	HP:0000546	Retinal degeneration
OMIM:600059	OFD1	8481	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:600059	OFD1	8481	HP:0000662	Nyctalopia
OMIM:600059	OFD1	8481	HP:0011505	Cystoid macular edema
OMIM:600059	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:600059	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:600059	GUCA1B	2979	HP:0000546	Retinal degeneration
OMIM:600059	GUCA1B	2979	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:600059	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:600059	GUCA1B	2979	HP:0011505	Cystoid macular edema
OMIM:600059	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:600059	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:600059	NRL	4901	HP:0000546	Retinal degeneration
OMIM:600059	NRL	4901	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:600059	NRL	4901	HP:0000662	Nyctalopia
OMIM:600059	NRL	4901	HP:0011505	Cystoid macular edema
OMIM:600059	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:600059	PDE6B	5158	HP:0000546	Retinal degeneration
OMIM:600059	PDE6B	5158	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:600059	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:600059	PDE6B	5158	HP:0011505	Cystoid macular edema
OMIM:600059	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:600059	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:600059	KLHL7	55975	HP:0000546	Retinal degeneration
OMIM:600059	KLHL7	55975	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:600059	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:600059	KLHL7	55975	HP:0011505	Cystoid macular edema
OMIM:600059	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:600059	PRPF4	9128	HP:0000546	Retinal degeneration
OMIM:600059	PRPF4	9128	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:600059	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:600059	PRPF4	9128	HP:0011505	Cystoid macular edema
OMIM:600059	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:600059	PRPF3	9129	HP:0000546	Retinal degeneration
OMIM:600059	PRPF3	9129	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:600059	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:600059	PRPF3	9129	HP:0011505	Cystoid macular edema
OMIM:600059	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:600059	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:600059	FAM161A	84140	HP:0000546	Retinal degeneration
OMIM:600059	FAM161A	84140	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:600059	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:600059	FAM161A	84140	HP:0011505	Cystoid macular edema
OMIM:600059	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:600059	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:600059	IFT172	26160	HP:0000546	Retinal degeneration
OMIM:600059	IFT172	26160	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:600059	IFT172	26160	HP:0000662	Nyctalopia
OMIM:600059	IFT172	26160	HP:0011505	Cystoid macular edema
OMIM:600059	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:600059	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:600059	KIZ	55857	HP:0000546	Retinal degeneration
OMIM:600059	KIZ	55857	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:600059	KIZ	55857	HP:0000662	Nyctalopia
OMIM:600059	KIZ	55857	HP:0011505	Cystoid macular edema
OMIM:600059	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:600059	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:600059	CDHR1	92211	HP:0000546	Retinal degeneration
OMIM:600059	CDHR1	92211	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:600059	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:600059	CDHR1	92211	HP:0011505	Cystoid macular edema
OMIM:600059	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:600059	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:600059	ZNF408	79797	HP:0000546	Retinal degeneration
OMIM:600059	ZNF408	79797	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:600059	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:600059	ZNF408	79797	HP:0011505	Cystoid macular edema
OMIM:600059	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:600059	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:600059	RBP3	5949	HP:0000546	Retinal degeneration
OMIM:600059	RBP3	5949	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:600059	RBP3	5949	HP:0000662	Nyctalopia
OMIM:600059	RBP3	5949	HP:0011505	Cystoid macular edema
OMIM:600059	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:600059	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:600059	HGSNAT	138050	HP:0000546	Retinal degeneration
OMIM:600059	HGSNAT	138050	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:600059	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:600059	HGSNAT	138050	HP:0011505	Cystoid macular edema
OMIM:600059	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:600059	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:600059	FSCN2	25794	HP:0000546	Retinal degeneration
OMIM:600059	FSCN2	25794	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:600059	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:600059	FSCN2	25794	HP:0011505	Cystoid macular edema
OMIM:600059	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:600059	PRCD	768206	HP:0000546	Retinal degeneration
OMIM:600059	PRCD	768206	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:600059	PRCD	768206	HP:0000662	Nyctalopia
OMIM:600059	PRCD	768206	HP:0011505	Cystoid macular edema
OMIM:600059	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:600059	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:600059	BBS2	583	HP:0000546	Retinal degeneration
OMIM:600059	BBS2	583	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:600059	BBS2	583	HP:0000662	Nyctalopia
OMIM:600059	BBS2	583	HP:0011505	Cystoid macular edema
OMIM:600059	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:600059	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:600059	RDH12	145226	HP:0000546	Retinal degeneration
OMIM:600059	RDH12	145226	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:600059	RDH12	145226	HP:0000662	Nyctalopia
OMIM:600059	RDH12	145226	HP:0011505	Cystoid macular edema
OMIM:600059	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:600059	PRPH2	5961	HP:0000546	Retinal degeneration
OMIM:600059	PRPH2	5961	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:600059	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:600059	PRPH2	5961	HP:0011505	Cystoid macular edema
OMIM:600059	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:600059	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:600059	DHDDS	79947	HP:0000546	Retinal degeneration
OMIM:600059	DHDDS	79947	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:600059	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:600059	DHDDS	79947	HP:0011505	Cystoid macular edema
OMIM:600059	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:600059	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:600059	ROM1	6094	HP:0000546	Retinal degeneration
OMIM:600059	ROM1	6094	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:600059	ROM1	6094	HP:0000662	Nyctalopia
OMIM:600059	ROM1	6094	HP:0011505	Cystoid macular edema
OMIM:600059	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:600059	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:600059	C2ORF71	388939	HP:0000546	Retinal degeneration
OMIM:600059	C2ORF71	388939	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:600059	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:600059	C2ORF71	388939	HP:0011505	Cystoid macular edema
OMIM:600059	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:600059	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:600059	RP9	6100	HP:0000546	Retinal degeneration
OMIM:600059	RP9	6100	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:600059	RP9	6100	HP:0000662	Nyctalopia
OMIM:600059	RP9	6100	HP:0011505	Cystoid macular edema
OMIM:600059	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:600059	PRPF6	24148	HP:0000546	Retinal degeneration
OMIM:600059	PRPF6	24148	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:600059	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:600059	PRPF6	24148	HP:0011505	Cystoid macular edema
OMIM:600059	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:600059	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:600059	RP1	6101	HP:0000546	Retinal degeneration
OMIM:600059	RP1	6101	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:600059	RP1	6101	HP:0000662	Nyctalopia
OMIM:600059	RP1	6101	HP:0011505	Cystoid macular edema
OMIM:600059	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:600059	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:600059	RP2	6102	HP:0000546	Retinal degeneration
OMIM:600059	RP2	6102	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:600059	RP2	6102	HP:0000662	Nyctalopia
OMIM:600059	RP2	6102	HP:0011505	Cystoid macular edema
OMIM:600059	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:600059	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:600059	RPGR	6103	HP:0000546	Retinal degeneration
OMIM:600059	RPGR	6103	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:600059	RPGR	6103	HP:0000662	Nyctalopia
OMIM:600059	RPGR	6103	HP:0011505	Cystoid macular edema
OMIM:600059	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:600059	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:600059	SEMA4A	64218	HP:0000546	Retinal degeneration
OMIM:600059	SEMA4A	64218	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:600059	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:600059	SEMA4A	64218	HP:0011505	Cystoid macular edema
OMIM:600059	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:600059	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:600059	C8ORF37	157657	HP:0000546	Retinal degeneration
OMIM:600059	C8ORF37	157657	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:600059	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:600059	C8ORF37	157657	HP:0011505	Cystoid macular edema
OMIM:600059	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:600059	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:600059	IDH3B	3420	HP:0000546	Retinal degeneration
OMIM:600059	IDH3B	3420	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:600059	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:600059	IDH3B	3420	HP:0011505	Cystoid macular edema
OMIM:600059	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:600059	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:600059	MERTK	10461	HP:0000546	Retinal degeneration
OMIM:600059	MERTK	10461	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:600059	MERTK	10461	HP:0000662	Nyctalopia
OMIM:600059	MERTK	10461	HP:0011505	Cystoid macular edema
OMIM:600059	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:600059	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:600059	PRPF8	10594	HP:0000546	Retinal degeneration
OMIM:600059	PRPF8	10594	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:600059	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:600059	PRPF8	10594	HP:0011505	Cystoid macular edema
OMIM:600059	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:600059	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:600059	TOPORS	10210	HP:0000546	Retinal degeneration
OMIM:600059	TOPORS	10210	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:600059	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:600059	TOPORS	10210	HP:0011505	Cystoid macular edema
OMIM:600059	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:600059	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:600059	USH2A	7399	HP:0000546	Retinal degeneration
OMIM:600059	USH2A	7399	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:600059	USH2A	7399	HP:0000662	Nyctalopia
OMIM:600059	USH2A	7399	HP:0011505	Cystoid macular edema
OMIM:600059	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:600059	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:600059	RPE65	6121	HP:0000546	Retinal degeneration
OMIM:600059	RPE65	6121	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:600059	RPE65	6121	HP:0000662	Nyctalopia
OMIM:600059	RPE65	6121	HP:0011505	Cystoid macular edema
OMIM:600059	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:600059	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:600059	CLRN1	7401	HP:0000546	Retinal degeneration
OMIM:600059	CLRN1	7401	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:600059	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:600059	CLRN1	7401	HP:0011505	Cystoid macular edema
OMIM:600059	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:600059	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:600059	CNGB1	1258	HP:0000546	Retinal degeneration
OMIM:600059	CNGB1	1258	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:600059	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:600059	CNGB1	1258	HP:0011505	Cystoid macular edema
OMIM:600059	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:600059	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:600059	RGR	5995	HP:0000546	Retinal degeneration
OMIM:600059	RGR	5995	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:600059	RGR	5995	HP:0000662	Nyctalopia
OMIM:600059	RGR	5995	HP:0011505	Cystoid macular edema
OMIM:600059	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:600059	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:600059	CNGA1	1259	HP:0000546	Retinal degeneration
OMIM:600059	CNGA1	1259	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:600059	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:600059	CNGA1	1259	HP:0011505	Cystoid macular edema
OMIM:600059	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:600059	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:600059	TUB	7275	HP:0000546	Retinal degeneration
OMIM:600059	TUB	7275	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:600059	TUB	7275	HP:0000662	Nyctalopia
OMIM:600059	TUB	7275	HP:0011505	Cystoid macular edema
OMIM:600059	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:600059	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:600059	SNRNP200	23020	HP:0000546	Retinal degeneration
OMIM:600059	SNRNP200	23020	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:600059	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:600059	SNRNP200	23020	HP:0011505	Cystoid macular edema
OMIM:600059	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:600059	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:600059	SLC7A14	57709	HP:0000546	Retinal degeneration
OMIM:600059	SLC7A14	57709	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:600059	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:600059	SLC7A14	57709	HP:0011505	Cystoid macular edema
OMIM:600059	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:600059	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:600059	TULP1	7287	HP:0000546	Retinal degeneration
OMIM:600059	TULP1	7287	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:600059	TULP1	7287	HP:0000662	Nyctalopia
OMIM:600059	TULP1	7287	HP:0011505	Cystoid macular edema
OMIM:600059	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:600059	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:600059	RHO	6010	HP:0000546	Retinal degeneration
OMIM:600059	RHO	6010	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:600059	RHO	6010	HP:0000662	Nyctalopia
OMIM:600059	RHO	6010	HP:0011505	Cystoid macular edema
OMIM:600059	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:600059	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:600059	CA4	762	HP:0000546	Retinal degeneration
OMIM:600059	CA4	762	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:600059	CA4	762	HP:0000662	Nyctalopia
OMIM:600059	CA4	762	HP:0011505	Cystoid macular edema
OMIM:600059	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:600059	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:600059	CRB1	23418	HP:0000546	Retinal degeneration
OMIM:600059	CRB1	23418	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:600059	CRB1	23418	HP:0000662	Nyctalopia
OMIM:600059	CRB1	23418	HP:0011505	Cystoid macular edema
OMIM:600059	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:600059	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:600059	IMPG2	50939	HP:0000546	Retinal degeneration
OMIM:600059	IMPG2	50939	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:600059	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:600059	IMPG2	50939	HP:0011505	Cystoid macular edema
OMIM:600059	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:600059	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:600059	ZNF513	130557	HP:0000546	Retinal degeneration
OMIM:600059	ZNF513	130557	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:600059	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:600059	ZNF513	130557	HP:0011505	Cystoid macular edema
OMIM:600059	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:600059	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:600059	CRX	1406	HP:0000546	Retinal degeneration
OMIM:600059	CRX	1406	HP:0007894	Hypopigmentation of the fundus
OMIM:600059	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:600059	CRX	1406	HP:0000662	Nyctalopia
OMIM:600059	CRX	1406	HP:0011505	Cystoid macular edema
OMIM:600059	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:610024	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:610024	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:610024	RPGR	6103	HP:0000613	Photophobia
OMIM:610024	RPGR	6103	HP:0008020	Progressive cone degeneration
OMIM:610024	RPGR	6103	HP:0007641	Dyschromatopsia
OMIM:610024	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:610024	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:610024	RPGR	6103	HP:0000662	Nyctalopia
OMIM:610024	RPGR	6103	HP:0000639	Nystagmus
OMIM:610024	CNGB3	54714	HP:0000006	Autosomal dominant inheritance
OMIM:610024	CNGB3	54714	HP:0000007	Autosomal recessive inheritance
OMIM:610024	CNGB3	54714	HP:0000613	Photophobia
OMIM:610024	CNGB3	54714	HP:0008020	Progressive cone degeneration
OMIM:610024	CNGB3	54714	HP:0007641	Dyschromatopsia
OMIM:610024	CNGB3	54714	HP:0000548	Cone/cone-rod dystrophy
OMIM:610024	CNGB3	54714	HP:0007663	Reduced visual acuity
OMIM:610024	CNGB3	54714	HP:0000662	Nyctalopia
OMIM:610024	CNGB3	54714	HP:0000639	Nystagmus
OMIM:610024	PDE6C	5146	HP:0000006	Autosomal dominant inheritance
OMIM:610024	PDE6C	5146	HP:0000007	Autosomal recessive inheritance
OMIM:610024	PDE6C	5146	HP:0000613	Photophobia
OMIM:610024	PDE6C	5146	HP:0008020	Progressive cone degeneration
OMIM:610024	PDE6C	5146	HP:0007641	Dyschromatopsia
OMIM:610024	PDE6C	5146	HP:0000548	Cone/cone-rod dystrophy
OMIM:610024	PDE6C	5146	HP:0007663	Reduced visual acuity
OMIM:610024	PDE6C	5146	HP:0000662	Nyctalopia
OMIM:610024	PDE6C	5146	HP:0000639	Nystagmus
OMIM:610024	GNAT2	2780	HP:0000006	Autosomal dominant inheritance
OMIM:610024	GNAT2	2780	HP:0000007	Autosomal recessive inheritance
OMIM:610024	GNAT2	2780	HP:0000613	Photophobia
OMIM:610024	GNAT2	2780	HP:0008020	Progressive cone degeneration
OMIM:610024	GNAT2	2780	HP:0007641	Dyschromatopsia
OMIM:610024	GNAT2	2780	HP:0000548	Cone/cone-rod dystrophy
OMIM:610024	GNAT2	2780	HP:0007663	Reduced visual acuity
OMIM:610024	GNAT2	2780	HP:0000662	Nyctalopia
OMIM:610024	GNAT2	2780	HP:0000639	Nystagmus
OMIM:610024	PDE6H	5149	HP:0000006	Autosomal dominant inheritance
OMIM:610024	PDE6H	5149	HP:0000007	Autosomal recessive inheritance
OMIM:610024	PDE6H	5149	HP:0000613	Photophobia
OMIM:610024	PDE6H	5149	HP:0008020	Progressive cone degeneration
OMIM:610024	PDE6H	5149	HP:0007641	Dyschromatopsia
OMIM:610024	PDE6H	5149	HP:0000548	Cone/cone-rod dystrophy
OMIM:610024	PDE6H	5149	HP:0007663	Reduced visual acuity
OMIM:610024	PDE6H	5149	HP:0000662	Nyctalopia
OMIM:610024	PDE6H	5149	HP:0000639	Nystagmus
OMIM:610024	CNGA3	1261	HP:0000006	Autosomal dominant inheritance
OMIM:610024	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:610024	CNGA3	1261	HP:0000613	Photophobia
OMIM:610024	CNGA3	1261	HP:0008020	Progressive cone degeneration
OMIM:610024	CNGA3	1261	HP:0007641	Dyschromatopsia
OMIM:610024	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:610024	CNGA3	1261	HP:0007663	Reduced visual acuity
OMIM:610024	CNGA3	1261	HP:0000662	Nyctalopia
OMIM:610024	CNGA3	1261	HP:0000639	Nystagmus
OMIM:610024	ATF6	22926	HP:0000006	Autosomal dominant inheritance
OMIM:610024	ATF6	22926	HP:0000007	Autosomal recessive inheritance
OMIM:610024	ATF6	22926	HP:0000613	Photophobia
OMIM:610024	ATF6	22926	HP:0008020	Progressive cone degeneration
OMIM:610024	ATF6	22926	HP:0007641	Dyschromatopsia
OMIM:610024	ATF6	22926	HP:0000548	Cone/cone-rod dystrophy
OMIM:610024	ATF6	22926	HP:0007663	Reduced visual acuity
OMIM:610024	ATF6	22926	HP:0000662	Nyctalopia
OMIM:610024	ATF6	22926	HP:0000639	Nystagmus
OMIM:166260	ANO5	203859	HP:0006288	Advanced eruption of teeth
OMIM:166260	ANO5	203859	HP:0002659	Increased susceptibility to fractures
OMIM:166260	ANO5	203859	HP:0006487	Bowing of the long bones
OMIM:166260	ANO5	203859	HP:0000938	Osteopenia
OMIM:166260	ANO5	203859	HP:0002757	Recurrent fractures
OMIM:166260	ANO5	203859	HP:0004349	Reduced bone mineral density
OMIM:166260	ANO5	203859	HP:0000006	Autosomal dominant inheritance
OMIM:166260	ANO5	203859	HP:0002650	Scoliosis
OMIM:166260	ANO5	203859	HP:0003103	Abnormal cortical bone morphology
OMIM:166260	ANO5	203859	HP:0000277	Abnormality of the mandible
OMIM:166260	ANO5	203859	HP:0002754	Osteomyelitis
OMIM:606685	TPM1	7168	HP:0006673	Reduced systolic function
OMIM:606685	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:606685	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:606685	CRYAB	1410	HP:0006673	Reduced systolic function
OMIM:606685	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:606685	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:606685	ACTC1	70	HP:0006673	Reduced systolic function
OMIM:606685	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:606685	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:606685	RAF1	5894	HP:0006673	Reduced systolic function
OMIM:606685	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:606685	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:606685	GATAD1	57798	HP:0006673	Reduced systolic function
OMIM:606685	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:606685	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:606685	LAMA4	3910	HP:0006673	Reduced systolic function
OMIM:606685	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:606685	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:606685	TMPO	7112	HP:0006673	Reduced systolic function
OMIM:606685	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:606685	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:606685	DES	1674	HP:0006673	Reduced systolic function
OMIM:606685	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:606685	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:606685	ABCC9	10060	HP:0006673	Reduced systolic function
OMIM:606685	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:606685	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:606685	MYH6	4624	HP:0006673	Reduced systolic function
OMIM:606685	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:606685	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:606685	MYH7	4625	HP:0006673	Reduced systolic function
OMIM:606685	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:606685	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:606685	LDB3	11155	HP:0006673	Reduced systolic function
OMIM:606685	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:606685	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:606685	ACTN2	88	HP:0006673	Reduced systolic function
OMIM:606685	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:606685	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:606685	TXNRD2	10587	HP:0006673	Reduced systolic function
OMIM:606685	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:606685	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:606685	DMD	1756	HP:0006673	Reduced systolic function
OMIM:606685	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:606685	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:606685	TNNC1	7134	HP:0006673	Reduced systolic function
OMIM:606685	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:606685	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:606685	PSEN1	5663	HP:0006673	Reduced systolic function
OMIM:606685	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:606685	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:606685	PSEN2	5664	HP:0006673	Reduced systolic function
OMIM:606685	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:606685	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:606685	TNNI3	7137	HP:0006673	Reduced systolic function
OMIM:606685	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:606685	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:606685	FHL2	2274	HP:0006673	Reduced systolic function
OMIM:606685	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:606685	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:606685	TNNT2	7139	HP:0006673	Reduced systolic function
OMIM:606685	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:606685	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:606685	DSG2	1829	HP:0006673	Reduced systolic function
OMIM:606685	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:606685	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:606685	PLN	5350	HP:0006673	Reduced systolic function
OMIM:606685	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:606685	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:606685	PRDM16	63976	HP:0006673	Reduced systolic function
OMIM:606685	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:606685	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:606685	TTN	7273	HP:0006673	Reduced systolic function
OMIM:606685	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:606685	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:606685	NEXN	91624	HP:0006673	Reduced systolic function
OMIM:606685	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:606685	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:606685	FKTN	2218	HP:0006673	Reduced systolic function
OMIM:606685	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:606685	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:606685	SGCD	6444	HP:0006673	Reduced systolic function
OMIM:606685	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:606685	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:606685	TCAP	8557	HP:0006673	Reduced systolic function
OMIM:606685	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:606685	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:606685	CSRP3	8048	HP:0006673	Reduced systolic function
OMIM:606685	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:606685	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:606685	RBM20	282996	HP:0006673	Reduced systolic function
OMIM:606685	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:606685	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:606685	SDHA	6389	HP:0006673	Reduced systolic function
OMIM:606685	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:606685	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:606685	TAZ	6901	HP:0006673	Reduced systolic function
OMIM:606685	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:606685	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:606685	VCL	7414	HP:0006673	Reduced systolic function
OMIM:606685	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:606685	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:606685	MYPN	84665	HP:0006673	Reduced systolic function
OMIM:606685	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:606685	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:606685	SCN5A	6331	HP:0006673	Reduced systolic function
OMIM:606685	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:606685	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:606685	BAG3	9531	HP:0006673	Reduced systolic function
OMIM:606685	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:606685	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:606685	DOLK	22845	HP:0006673	Reduced systolic function
OMIM:606685	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:606685	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:606685	MYBPC3	4607	HP:0006673	Reduced systolic function
OMIM:606685	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:606685	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:609313	AP1S1	1174	HP:0001510	Growth delay
OMIM:609313	AP1S1	1174	HP:0002242	Abnormality of the intestine
OMIM:609313	AP1S1	1174	HP:0003577	Congenital onset
OMIM:609313	AP1S1	1174	HP:0000518	Cataract
OMIM:609313	AP1S1	1174	HP:0001395	Hepatic fibrosis
OMIM:609313	AP1S1	1174	HP:0000582	Upslanted palpebral fissure
OMIM:609313	AP1S1	1174	HP:0001263	Global developmental delay
OMIM:609313	AP1S1	1174	HP:0001249	Intellectual disability
OMIM:609313	AP1S1	1174	HP:0009830	Peripheral neuropathy
OMIM:609313	AP1S1	1174	HP:0000348	High forehead
OMIM:609313	AP1S1	1174	HP:0002014	Diarrhea
OMIM:609313	AP1S1	1174	HP:0001252	Muscular hypotonia
OMIM:609313	AP1S1	1174	HP:0000007	Autosomal recessive inheritance
OMIM:609313	AP1S1	1174	HP:0008064	Ichthyosis
OMIM:609313	AP1S1	1174	HP:0001396	Cholestasis
OMIM:609313	AP1S1	1174	HP:0001394	Cirrhosis
OMIM:615269	PROK2	60675	HP:0000939	Osteoporosis
OMIM:615269	PROK2	60675	HP:0000365	Hearing impairment
OMIM:615269	PROK2	60675	HP:0000938	Osteopenia
OMIM:615269	PROK2	60675	HP:0000164	Abnormality of the teeth
OMIM:615269	PROKR2	128674	HP:0000939	Osteoporosis
OMIM:615269	PROKR2	128674	HP:0000365	Hearing impairment
OMIM:615269	PROKR2	128674	HP:0000938	Osteopenia
OMIM:615269	PROKR2	128674	HP:0000164	Abnormality of the teeth
OMIM:615269	SEMA3A	10371	HP:0000939	Osteoporosis
OMIM:615269	SEMA3A	10371	HP:0000365	Hearing impairment
OMIM:615269	SEMA3A	10371	HP:0000938	Osteopenia
OMIM:615269	SEMA3A	10371	HP:0000164	Abnormality of the teeth
OMIM:615269	IL17RD	54756	HP:0000939	Osteoporosis
OMIM:615269	IL17RD	54756	HP:0000365	Hearing impairment
OMIM:615269	IL17RD	54756	HP:0000938	Osteopenia
OMIM:615269	IL17RD	54756	HP:0000164	Abnormality of the teeth
OMIM:615269	WDR11	55717	HP:0000939	Osteoporosis
OMIM:615269	WDR11	55717	HP:0000365	Hearing impairment
OMIM:615269	WDR11	55717	HP:0000938	Osteopenia
OMIM:615269	WDR11	55717	HP:0000164	Abnormality of the teeth
OMIM:615269	KISS1	3814	HP:0000939	Osteoporosis
OMIM:615269	KISS1	3814	HP:0000365	Hearing impairment
OMIM:615269	KISS1	3814	HP:0000938	Osteopenia
OMIM:615269	KISS1	3814	HP:0000164	Abnormality of the teeth
OMIM:615269	SOX10	6663	HP:0000939	Osteoporosis
OMIM:615269	SOX10	6663	HP:0000365	Hearing impairment
OMIM:615269	SOX10	6663	HP:0000938	Osteopenia
OMIM:615269	SOX10	6663	HP:0000164	Abnormality of the teeth
OMIM:615269	FEZF1	389549	HP:0000939	Osteoporosis
OMIM:615269	FEZF1	389549	HP:0000365	Hearing impairment
OMIM:615269	FEZF1	389549	HP:0000938	Osteopenia
OMIM:615269	FEZF1	389549	HP:0000164	Abnormality of the teeth
OMIM:615269	GNRH1	2796	HP:0000939	Osteoporosis
OMIM:615269	GNRH1	2796	HP:0000365	Hearing impairment
OMIM:615269	GNRH1	2796	HP:0000938	Osteopenia
OMIM:615269	GNRH1	2796	HP:0000164	Abnormality of the teeth
OMIM:615269	FGF8	2253	HP:0000939	Osteoporosis
OMIM:615269	FGF8	2253	HP:0000365	Hearing impairment
OMIM:615269	FGF8	2253	HP:0000938	Osteopenia
OMIM:615269	FGF8	2253	HP:0000164	Abnormality of the teeth
OMIM:615269	GNRHR	2798	HP:0000939	Osteoporosis
OMIM:615269	GNRHR	2798	HP:0000365	Hearing impairment
OMIM:615269	GNRHR	2798	HP:0000938	Osteopenia
OMIM:615269	GNRHR	2798	HP:0000164	Abnormality of the teeth
OMIM:615269	ANOS1	3730	HP:0000939	Osteoporosis
OMIM:615269	ANOS1	3730	HP:0000365	Hearing impairment
OMIM:615269	ANOS1	3730	HP:0000938	Osteopenia
OMIM:615269	ANOS1	3730	HP:0000164	Abnormality of the teeth
OMIM:615269	TAC3	6866	HP:0000939	Osteoporosis
OMIM:615269	TAC3	6866	HP:0000365	Hearing impairment
OMIM:615269	TAC3	6866	HP:0000938	Osteopenia
OMIM:615269	TAC3	6866	HP:0000164	Abnormality of the teeth
OMIM:615269	HS6ST1	9394	HP:0000939	Osteoporosis
OMIM:615269	HS6ST1	9394	HP:0000365	Hearing impairment
OMIM:615269	HS6ST1	9394	HP:0000938	Osteopenia
OMIM:615269	HS6ST1	9394	HP:0000164	Abnormality of the teeth
OMIM:615269	CHD7	55636	HP:0000939	Osteoporosis
OMIM:615269	CHD7	55636	HP:0000365	Hearing impairment
OMIM:615269	CHD7	55636	HP:0000938	Osteopenia
OMIM:615269	CHD7	55636	HP:0000164	Abnormality of the teeth
OMIM:615269	FGFR1	2260	HP:0000939	Osteoporosis
OMIM:615269	FGFR1	2260	HP:0000365	Hearing impairment
OMIM:615269	FGFR1	2260	HP:0000938	Osteopenia
OMIM:615269	FGFR1	2260	HP:0000164	Abnormality of the teeth
OMIM:615269	HESX1	8820	HP:0000939	Osteoporosis
OMIM:615269	HESX1	8820	HP:0000365	Hearing impairment
OMIM:615269	HESX1	8820	HP:0000938	Osteopenia
OMIM:615269	HESX1	8820	HP:0000164	Abnormality of the teeth
OMIM:615269	TACR3	6870	HP:0000939	Osteoporosis
OMIM:615269	TACR3	6870	HP:0000365	Hearing impairment
OMIM:615269	TACR3	6870	HP:0000938	Osteopenia
OMIM:615269	TACR3	6870	HP:0000164	Abnormality of the teeth
OMIM:615269	FGF17	8822	HP:0000939	Osteoporosis
OMIM:615269	FGF17	8822	HP:0000365	Hearing impairment
OMIM:615269	FGF17	8822	HP:0000938	Osteopenia
OMIM:615269	FGF17	8822	HP:0000164	Abnormality of the teeth
OMIM:615269	FLRT3	23767	HP:0000939	Osteoporosis
OMIM:615269	FLRT3	23767	HP:0000365	Hearing impairment
OMIM:615269	FLRT3	23767	HP:0000938	Osteopenia
OMIM:615269	FLRT3	23767	HP:0000164	Abnormality of the teeth
OMIM:615269	DUSP6	1848	HP:0000939	Osteoporosis
OMIM:615269	DUSP6	1848	HP:0000365	Hearing impairment
OMIM:615269	DUSP6	1848	HP:0000938	Osteopenia
OMIM:615269	DUSP6	1848	HP:0000164	Abnormality of the teeth
OMIM:615269	SPRY4	81848	HP:0000939	Osteoporosis
OMIM:615269	SPRY4	81848	HP:0000365	Hearing impairment
OMIM:615269	SPRY4	81848	HP:0000938	Osteopenia
OMIM:615269	SPRY4	81848	HP:0000164	Abnormality of the teeth
OMIM:615269	KISS1R	84634	HP:0000939	Osteoporosis
OMIM:615269	KISS1R	84634	HP:0000365	Hearing impairment
OMIM:615269	KISS1R	84634	HP:0000938	Osteopenia
OMIM:615269	KISS1R	84634	HP:0000164	Abnormality of the teeth
OMIM:615269	NSMF	26012	HP:0000939	Osteoporosis
OMIM:615269	NSMF	26012	HP:0000365	Hearing impairment
OMIM:615269	NSMF	26012	HP:0000938	Osteopenia
OMIM:615269	NSMF	26012	HP:0000164	Abnormality of the teeth
OMIM:604625	IRF6	3664	HP:0000006	Autosomal dominant inheritance
OMIM:604625	IRF6	3664	HP:0000691	Microdontia
OMIM:604625	EDARADD	128178	HP:0000006	Autosomal dominant inheritance
OMIM:604625	EDARADD	128178	HP:0000691	Microdontia
OMIM:604625	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:604625	FGFR1	2260	HP:0000691	Microdontia
OMIM:604625	LTBP3	4054	HP:0000006	Autosomal dominant inheritance
OMIM:604625	LTBP3	4054	HP:0000691	Microdontia
OMIM:604625	WNT10A	80326	HP:0000006	Autosomal dominant inheritance
OMIM:604625	WNT10A	80326	HP:0000691	Microdontia
OMIM:604625	MSX1	4487	HP:0000006	Autosomal dominant inheritance
OMIM:604625	MSX1	4487	HP:0000691	Microdontia
OMIM:604625	EDA	1896	HP:0000006	Autosomal dominant inheritance
OMIM:604625	EDA	1896	HP:0000691	Microdontia
OMIM:604625	LRP6	4040	HP:0000006	Autosomal dominant inheritance
OMIM:604625	LRP6	4040	HP:0000691	Microdontia
OMIM:604625	AXIN2	8313	HP:0000006	Autosomal dominant inheritance
OMIM:604625	AXIN2	8313	HP:0000691	Microdontia
OMIM:604625	PAX9	5083	HP:0000006	Autosomal dominant inheritance
OMIM:604625	PAX9	5083	HP:0000691	Microdontia
OMIM:604625	TGFA	7039	HP:0000006	Autosomal dominant inheritance
OMIM:604625	TGFA	7039	HP:0000691	Microdontia
OMIM:261600	PAH	5053	HP:0000722	Obsessive-compulsive behavior
OMIM:261600	PAH	5053	HP:0001250	Seizures
OMIM:261600	PAH	5053	HP:0007513	Generalized hypopigmentation
OMIM:261600	PAH	5053	HP:0007018	Attention deficit hyperactivity disorder
OMIM:261600	PAH	5053	HP:0000252	Microcephaly
OMIM:261600	PAH	5053	HP:0000518	Cataract
OMIM:261600	PAH	5053	HP:0100543	Cognitive impairment
OMIM:261600	PAH	5053	HP:0000739	Anxiety
OMIM:261600	PAH	5053	HP:0000635	Blue irides
OMIM:261600	PAH	5053	HP:0002514	Cerebral calcification
OMIM:261600	PAH	5053	HP:0000709	Psychosis
OMIM:261600	PAH	5053	HP:0000958	Dry skin
OMIM:261600	PAH	5053	HP:0000964	Eczema
OMIM:261600	PAH	5053	HP:0000007	Autosomal recessive inheritance
OMIM:261600	PAH	5053	HP:0000737	Irritability
OMIM:261600	PAH	5053	HP:0000718	Aggressive behavior
OMIM:261600	PAH	5053	HP:0001347	Hyperreflexia
OMIM:261600	PAH	5053	HP:0001249	Intellectual disability
OMIM:261600	PAH	5053	HP:0000742	Self-mutilation
OMIM:261600	PAH	5053	HP:0003355	Aminoaciduria
OMIM:600430	HDAC4	9759	HP:0001513	Obesity
OMIM:600430	HDAC4	9759	HP:0002779	Tracheomalacia
OMIM:600430	HDAC4	9759	HP:0000582	Upslanted palpebral fissure
OMIM:600430	HDAC4	9759	HP:0000722	Obsessive-compulsive behavior
OMIM:600430	HDAC4	9759	HP:0004279	Short palm
OMIM:600430	HDAC4	9759	HP:0001156	Brachydactyly syndrome
OMIM:600430	HDAC4	9759	HP:0007021	Pain insensitivity
OMIM:600430	HDAC4	9759	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:600430	HDAC4	9759	HP:0001265	Hyporeflexia
OMIM:600430	HDAC4	9759	HP:0000003	Multicystic kidney dysplasia
OMIM:600430	HDAC4	9759	HP:0000490	Deeply set eye
OMIM:600430	HDAC4	9759	HP:0006101	Finger syndactyly
OMIM:600430	HDAC4	9759	HP:0100543	Cognitive impairment
OMIM:600430	HDAC4	9759	HP:0000430	Underdeveloped nasal alae
OMIM:600430	HDAC4	9759	HP:0000470	Short neck
OMIM:600430	HDAC4	9759	HP:0004322	Short stature
OMIM:600430	HDAC4	9759	HP:0000964	Eczema
OMIM:600430	HDAC4	9759	HP:0000455	Broad nasal tip
OMIM:600430	HDAC4	9759	HP:0001249	Intellectual disability
OMIM:600430	HDAC4	9759	HP:0001601	Laryngomalacia
OMIM:600430	HDAC4	9759	HP:0001537	Umbilical hernia
OMIM:600430	HDAC4	9759	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:600430	HDAC4	9759	HP:0000174	Abnormality of the palate
OMIM:600430	HDAC4	9759	HP:0000407	Sensorineural hearing impairment
OMIM:600430	HDAC4	9759	HP:0000717	Autism
OMIM:600430	HDAC4	9759	HP:0001770	Toe syndactyly
OMIM:600430	HDAC4	9759	HP:0000776	Congenital diaphragmatic hernia
OMIM:600430	HDAC4	9759	HP:0001773	Short foot
OMIM:600430	HDAC4	9759	HP:0000272	Malar flattening
OMIM:600430	HDAC4	9759	HP:0001428	Somatic mutation
OMIM:600430	HDAC4	9759	HP:0000233	Thin vermilion border
OMIM:600430	HDAC4	9759	HP:0010743	Short metatarsal
OMIM:600430	HDAC4	9759	HP:0005280	Depressed nasal bridge
OMIM:600430	HDAC4	9759	HP:0000256	Macrocephaly
OMIM:600430	HDAC4	9759	HP:0001163	Abnormality of the metacarpal bones
OMIM:600430	HDAC4	9759	HP:0000248	Brachycephaly
OMIM:600430	HDAC4	9759	HP:0000752	Hyperactivity
OMIM:600430	HDAC4	9759	HP:0002553	Highly arched eyebrow
OMIM:600430	HDAC4	9759	HP:0001679	Abnormality of the aorta
OMIM:600430	HDAC4	9759	HP:0000311	Round face
OMIM:600430	HDAC4	9759	HP:0001263	Global developmental delay
OMIM:600430	HDAC4	9759	HP:0002558	Supernumerary nipple
OMIM:600430	HDAC4	9759	HP:0001382	Joint hypermobility
OMIM:600430	HDAC4	9759	HP:0000463	Anteverted nares
OMIM:600430	HDAC4	9759	HP:0011675	Arrhythmia
OMIM:600430	HDAC4	9759	HP:0000954	Single transverse palmar crease
OMIM:600430	HDAC4	9759	HP:0000718	Aggressive behavior
OMIM:600430	HDAC4	9759	HP:0000733	Stereotypic behavior
OMIM:600430	HDAC4	9759	HP:0003577	Congenital onset
OMIM:600430	HDAC4	9759	HP:0002714	Downturned corners of mouth
OMIM:600430	HDAC4	9759	HP:0000405	Conductive hearing impairment
OMIM:600430	HDAC4	9759	HP:0002021	Pyloric stenosis
OMIM:600430	HDAC4	9759	HP:0002007	Frontal bossing
OMIM:600430	HDAC4	9759	HP:0001682	Subaortic stenosis
OMIM:600430	HDAC4	9759	HP:0001252	Muscular hypotonia
OMIM:600430	HDAC4	9759	HP:0004209	Clinodactyly of the 5th finger
OMIM:600430	HDAC4	9759	HP:0100716	Self-injurious behavior
OMIM:600430	HDAC4	9759	HP:0002360	Sleep disturbance
OMIM:600430	HDAC4	9759	HP:0001831	Short toe
OMIM:600430	HDAC4	9759	HP:0010049	Short metacarpal
OMIM:600430	HDAC4	9759	HP:0001250	Seizures
OMIM:600430	HDAC4	9759	HP:0011362	Abnormal hair quantity
OMIM:600430	HDAC4	9759	HP:0007018	Attention deficit hyperactivity disorder
OMIM:600430	HDAC4	9759	HP:0010761	Broad columella
OMIM:600430	HDAC4	9759	HP:0000252	Microcephaly
OMIM:600430	HDAC4	9759	HP:0011800	Hypoplasia of midface
OMIM:600430	HDAC4	9759	HP:0009803	Short phalanx of finger
OMIM:260370	PDX1	3651	HP:0001508	Failure to thrive
OMIM:260370	PDX1	3651	HP:0000007	Autosomal recessive inheritance
OMIM:260370	PDX1	3651	HP:0001511	Intrauterine growth retardation
OMIM:260370	PTF1A	256297	HP:0001508	Failure to thrive
OMIM:260370	PTF1A	256297	HP:0000007	Autosomal recessive inheritance
OMIM:260370	PTF1A	256297	HP:0001511	Intrauterine growth retardation
OMIM:238700	AASS	10157	HP:0003812	Phenotypic variability
OMIM:238700	AASS	10157	HP:0000007	Autosomal recessive inheritance
OMIM:238700	AASS	10157	HP:0001250	Seizures
OMIM:238700	AASS	10157	HP:0001252	Muscular hypotonia
OMIM:238700	AASS	10157	HP:0100543	Cognitive impairment
OMIM:238700	AASS	10157	HP:0003593	Infantile onset
OMIM:238700	AASS	10157	HP:0000736	Short attention span
OMIM:238700	AASS	10157	HP:0000750	Delayed speech and language development
OMIM:238700	AASS	10157	HP:0001903	Anemia
OMIM:238700	AASS	10157	HP:0001083	Ectopia lentis
OMIM:238700	AASS	10157	HP:0001249	Intellectual disability
OMIM:238700	AASS	10157	HP:0000752	Hyperactivity
OMIM:238700	AASS	10157	HP:0000119	Abnormality of the genitourinary system
OMIM:182870	SPTB	6710	HP:0002904	Hyperbilirubinemia
OMIM:182870	SPTB	6710	HP:0000952	Jaundice
OMIM:182870	SPTB	6710	HP:0000006	Autosomal dominant inheritance
OMIM:182870	SPTB	6710	HP:0001878	Hemolytic anemia
OMIM:118300	PMP22	5376	HP:0003693	Distal amyotrophy
OMIM:118300	PMP22	5376	HP:0009027	Foot dorsiflexor weakness
OMIM:118300	PMP22	5376	HP:0003621	Juvenile onset
OMIM:118300	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
OMIM:118300	PMP22	5376	HP:0002936	Distal sensory impairment
OMIM:118300	PMP22	5376	HP:0001265	Hyporeflexia
OMIM:118300	PMP22	5376	HP:0011463	Childhood onset
OMIM:118300	PMP22	5376	HP:0001284	Areflexia
OMIM:118300	PMP22	5376	HP:0001171	Split hand
OMIM:118300	PMP22	5376	HP:0001761	Pes cavus
OMIM:118300	PMP22	5376	HP:0000006	Autosomal dominant inheritance
OMIM:118300	PMP22	5376	HP:0000407	Sensorineural hearing impairment
OMIM:118300	PMP22	5376	HP:0003376	Steppage gait
OMIM:118300	PMP22	5376	HP:0002460	Distal muscle weakness
OMIM:118300	PMP22	5376	HP:0001765	Hammertoe
OMIM:614202	METTL23	124512	HP:0000268	Dolichocephaly
OMIM:614202	METTL23	124512	HP:0001513	Obesity
OMIM:614202	METTL23	124512	HP:0002342	Intellectual disability, moderate
OMIM:614202	METTL23	124512	HP:0001263	Global developmental delay
OMIM:614202	METTL23	124512	HP:0000316	Hypertelorism
OMIM:614202	METTL23	124512	HP:0000494	Downslanted palpebral fissures
OMIM:614202	METTL23	124512	HP:0011229	Broad eyebrow
OMIM:614202	METTL23	124512	HP:0000448	Prominent nose
OMIM:614202	METTL23	124512	HP:0000718	Aggressive behavior
OMIM:614202	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:614202	METTL23	124512	HP:0000272	Malar flattening
OMIM:614202	METTL23	124512	HP:0000431	Wide nasal bridge
OMIM:614202	METTL23	124512	HP:0000322	Short philtrum
OMIM:614202	METTL23	124512	HP:0000319	Smooth philtrum
OMIM:614202	METTL23	124512	HP:0000276	Long face
OMIM:614202	METTL23	124512	HP:0000307	Pointed chin
OMIM:614202	METTL23	124512	HP:0000219	Thin upper lip vermilion
OMIM:614202	METTL23	124512	HP:0004523	Long eyebrows
OMIM:614202	METTL23	124512	HP:0001250	Seizures
OMIM:614202	CRADD	8738	HP:0000268	Dolichocephaly
OMIM:614202	CRADD	8738	HP:0001513	Obesity
OMIM:614202	CRADD	8738	HP:0002342	Intellectual disability, moderate
OMIM:614202	CRADD	8738	HP:0001263	Global developmental delay
OMIM:614202	CRADD	8738	HP:0000316	Hypertelorism
OMIM:614202	CRADD	8738	HP:0000494	Downslanted palpebral fissures
OMIM:614202	CRADD	8738	HP:0011229	Broad eyebrow
OMIM:614202	CRADD	8738	HP:0000448	Prominent nose
OMIM:614202	CRADD	8738	HP:0000718	Aggressive behavior
OMIM:614202	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:614202	CRADD	8738	HP:0000272	Malar flattening
OMIM:614202	CRADD	8738	HP:0000431	Wide nasal bridge
OMIM:614202	CRADD	8738	HP:0000322	Short philtrum
OMIM:614202	CRADD	8738	HP:0000319	Smooth philtrum
OMIM:614202	CRADD	8738	HP:0000276	Long face
OMIM:614202	CRADD	8738	HP:0000307	Pointed chin
OMIM:614202	CRADD	8738	HP:0000219	Thin upper lip vermilion
OMIM:614202	CRADD	8738	HP:0004523	Long eyebrows
OMIM:614202	CRADD	8738	HP:0001250	Seizures
OMIM:614202	NSUN2	54888	HP:0000268	Dolichocephaly
OMIM:614202	NSUN2	54888	HP:0001513	Obesity
OMIM:614202	NSUN2	54888	HP:0002342	Intellectual disability, moderate
OMIM:614202	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:614202	NSUN2	54888	HP:0000316	Hypertelorism
OMIM:614202	NSUN2	54888	HP:0000494	Downslanted palpebral fissures
OMIM:614202	NSUN2	54888	HP:0011229	Broad eyebrow
OMIM:614202	NSUN2	54888	HP:0000448	Prominent nose
OMIM:614202	NSUN2	54888	HP:0000718	Aggressive behavior
OMIM:614202	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:614202	NSUN2	54888	HP:0000272	Malar flattening
OMIM:614202	NSUN2	54888	HP:0000431	Wide nasal bridge
OMIM:614202	NSUN2	54888	HP:0000322	Short philtrum
OMIM:614202	NSUN2	54888	HP:0000319	Smooth philtrum
OMIM:614202	NSUN2	54888	HP:0000276	Long face
OMIM:614202	NSUN2	54888	HP:0000307	Pointed chin
OMIM:614202	NSUN2	54888	HP:0000219	Thin upper lip vermilion
OMIM:614202	NSUN2	54888	HP:0004523	Long eyebrows
OMIM:614202	NSUN2	54888	HP:0001250	Seizures
OMIM:614202	FMN2	56776	HP:0000268	Dolichocephaly
OMIM:614202	FMN2	56776	HP:0001513	Obesity
OMIM:614202	FMN2	56776	HP:0002342	Intellectual disability, moderate
OMIM:614202	FMN2	56776	HP:0001263	Global developmental delay
OMIM:614202	FMN2	56776	HP:0000316	Hypertelorism
OMIM:614202	FMN2	56776	HP:0000494	Downslanted palpebral fissures
OMIM:614202	FMN2	56776	HP:0011229	Broad eyebrow
OMIM:614202	FMN2	56776	HP:0000448	Prominent nose
OMIM:614202	FMN2	56776	HP:0000718	Aggressive behavior
OMIM:614202	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:614202	FMN2	56776	HP:0000272	Malar flattening
OMIM:614202	FMN2	56776	HP:0000431	Wide nasal bridge
OMIM:614202	FMN2	56776	HP:0000322	Short philtrum
OMIM:614202	FMN2	56776	HP:0000319	Smooth philtrum
OMIM:614202	FMN2	56776	HP:0000276	Long face
OMIM:614202	FMN2	56776	HP:0000307	Pointed chin
OMIM:614202	FMN2	56776	HP:0000219	Thin upper lip vermilion
OMIM:614202	FMN2	56776	HP:0004523	Long eyebrows
OMIM:614202	FMN2	56776	HP:0001250	Seizures
OMIM:614202	CLIP1	6249	HP:0000268	Dolichocephaly
OMIM:614202	CLIP1	6249	HP:0001513	Obesity
OMIM:614202	CLIP1	6249	HP:0002342	Intellectual disability, moderate
OMIM:614202	CLIP1	6249	HP:0001263	Global developmental delay
OMIM:614202	CLIP1	6249	HP:0000316	Hypertelorism
OMIM:614202	CLIP1	6249	HP:0000494	Downslanted palpebral fissures
OMIM:614202	CLIP1	6249	HP:0011229	Broad eyebrow
OMIM:614202	CLIP1	6249	HP:0000448	Prominent nose
OMIM:614202	CLIP1	6249	HP:0000718	Aggressive behavior
OMIM:614202	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:614202	CLIP1	6249	HP:0000272	Malar flattening
OMIM:614202	CLIP1	6249	HP:0000431	Wide nasal bridge
OMIM:614202	CLIP1	6249	HP:0000322	Short philtrum
OMIM:614202	CLIP1	6249	HP:0000319	Smooth philtrum
OMIM:614202	CLIP1	6249	HP:0000276	Long face
OMIM:614202	CLIP1	6249	HP:0000307	Pointed chin
OMIM:614202	CLIP1	6249	HP:0000219	Thin upper lip vermilion
OMIM:614202	CLIP1	6249	HP:0004523	Long eyebrows
OMIM:614202	CLIP1	6249	HP:0001250	Seizures
OMIM:614202	ZC3H14	79882	HP:0000268	Dolichocephaly
OMIM:614202	ZC3H14	79882	HP:0001513	Obesity
OMIM:614202	ZC3H14	79882	HP:0002342	Intellectual disability, moderate
OMIM:614202	ZC3H14	79882	HP:0001263	Global developmental delay
OMIM:614202	ZC3H14	79882	HP:0000316	Hypertelorism
OMIM:614202	ZC3H14	79882	HP:0000494	Downslanted palpebral fissures
OMIM:614202	ZC3H14	79882	HP:0011229	Broad eyebrow
OMIM:614202	ZC3H14	79882	HP:0000448	Prominent nose
OMIM:614202	ZC3H14	79882	HP:0000718	Aggressive behavior
OMIM:614202	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:614202	ZC3H14	79882	HP:0000272	Malar flattening
OMIM:614202	ZC3H14	79882	HP:0000431	Wide nasal bridge
OMIM:614202	ZC3H14	79882	HP:0000322	Short philtrum
OMIM:614202	ZC3H14	79882	HP:0000319	Smooth philtrum
OMIM:614202	ZC3H14	79882	HP:0000276	Long face
OMIM:614202	ZC3H14	79882	HP:0000307	Pointed chin
OMIM:614202	ZC3H14	79882	HP:0000219	Thin upper lip vermilion
OMIM:614202	ZC3H14	79882	HP:0004523	Long eyebrows
OMIM:614202	ZC3H14	79882	HP:0001250	Seizures
OMIM:614202	PRSS12	8492	HP:0000268	Dolichocephaly
OMIM:614202	PRSS12	8492	HP:0001513	Obesity
OMIM:614202	PRSS12	8492	HP:0002342	Intellectual disability, moderate
OMIM:614202	PRSS12	8492	HP:0001263	Global developmental delay
OMIM:614202	PRSS12	8492	HP:0000316	Hypertelorism
OMIM:614202	PRSS12	8492	HP:0000494	Downslanted palpebral fissures
OMIM:614202	PRSS12	8492	HP:0011229	Broad eyebrow
OMIM:614202	PRSS12	8492	HP:0000448	Prominent nose
OMIM:614202	PRSS12	8492	HP:0000718	Aggressive behavior
OMIM:614202	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:614202	PRSS12	8492	HP:0000272	Malar flattening
OMIM:614202	PRSS12	8492	HP:0000431	Wide nasal bridge
OMIM:614202	PRSS12	8492	HP:0000322	Short philtrum
OMIM:614202	PRSS12	8492	HP:0000319	Smooth philtrum
OMIM:614202	PRSS12	8492	HP:0000276	Long face
OMIM:614202	PRSS12	8492	HP:0000307	Pointed chin
OMIM:614202	PRSS12	8492	HP:0000219	Thin upper lip vermilion
OMIM:614202	PRSS12	8492	HP:0004523	Long eyebrows
OMIM:614202	PRSS12	8492	HP:0001250	Seizures
OMIM:614202	LINS1	55180	HP:0000268	Dolichocephaly
OMIM:614202	LINS1	55180	HP:0001513	Obesity
OMIM:614202	LINS1	55180	HP:0002342	Intellectual disability, moderate
OMIM:614202	LINS1	55180	HP:0001263	Global developmental delay
OMIM:614202	LINS1	55180	HP:0000316	Hypertelorism
OMIM:614202	LINS1	55180	HP:0000494	Downslanted palpebral fissures
OMIM:614202	LINS1	55180	HP:0011229	Broad eyebrow
OMIM:614202	LINS1	55180	HP:0000448	Prominent nose
OMIM:614202	LINS1	55180	HP:0000718	Aggressive behavior
OMIM:614202	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614202	LINS1	55180	HP:0000272	Malar flattening
OMIM:614202	LINS1	55180	HP:0000431	Wide nasal bridge
OMIM:614202	LINS1	55180	HP:0000322	Short philtrum
OMIM:614202	LINS1	55180	HP:0000319	Smooth philtrum
OMIM:614202	LINS1	55180	HP:0000276	Long face
OMIM:614202	LINS1	55180	HP:0000307	Pointed chin
OMIM:614202	LINS1	55180	HP:0000219	Thin upper lip vermilion
OMIM:614202	LINS1	55180	HP:0004523	Long eyebrows
OMIM:614202	LINS1	55180	HP:0001250	Seizures
OMIM:614202	NDST1	3340	HP:0000268	Dolichocephaly
OMIM:614202	NDST1	3340	HP:0001513	Obesity
OMIM:614202	NDST1	3340	HP:0002342	Intellectual disability, moderate
OMIM:614202	NDST1	3340	HP:0001263	Global developmental delay
OMIM:614202	NDST1	3340	HP:0000316	Hypertelorism
OMIM:614202	NDST1	3340	HP:0000494	Downslanted palpebral fissures
OMIM:614202	NDST1	3340	HP:0011229	Broad eyebrow
OMIM:614202	NDST1	3340	HP:0000448	Prominent nose
OMIM:614202	NDST1	3340	HP:0000718	Aggressive behavior
OMIM:614202	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:614202	NDST1	3340	HP:0000272	Malar flattening
OMIM:614202	NDST1	3340	HP:0000431	Wide nasal bridge
OMIM:614202	NDST1	3340	HP:0000322	Short philtrum
OMIM:614202	NDST1	3340	HP:0000319	Smooth philtrum
OMIM:614202	NDST1	3340	HP:0000276	Long face
OMIM:614202	NDST1	3340	HP:0000307	Pointed chin
OMIM:614202	NDST1	3340	HP:0000219	Thin upper lip vermilion
OMIM:614202	NDST1	3340	HP:0004523	Long eyebrows
OMIM:614202	NDST1	3340	HP:0001250	Seizures
OMIM:614202	CC2D1A	54862	HP:0000268	Dolichocephaly
OMIM:614202	CC2D1A	54862	HP:0001513	Obesity
OMIM:614202	CC2D1A	54862	HP:0002342	Intellectual disability, moderate
OMIM:614202	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:614202	CC2D1A	54862	HP:0000316	Hypertelorism
OMIM:614202	CC2D1A	54862	HP:0000494	Downslanted palpebral fissures
OMIM:614202	CC2D1A	54862	HP:0011229	Broad eyebrow
OMIM:614202	CC2D1A	54862	HP:0000448	Prominent nose
OMIM:614202	CC2D1A	54862	HP:0000718	Aggressive behavior
OMIM:614202	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:614202	CC2D1A	54862	HP:0000272	Malar flattening
OMIM:614202	CC2D1A	54862	HP:0000431	Wide nasal bridge
OMIM:614202	CC2D1A	54862	HP:0000322	Short philtrum
OMIM:614202	CC2D1A	54862	HP:0000319	Smooth philtrum
OMIM:614202	CC2D1A	54862	HP:0000276	Long face
OMIM:614202	CC2D1A	54862	HP:0000307	Pointed chin
OMIM:614202	CC2D1A	54862	HP:0000219	Thin upper lip vermilion
OMIM:614202	CC2D1A	54862	HP:0004523	Long eyebrows
OMIM:614202	CC2D1A	54862	HP:0001250	Seizures
OMIM:614202	FBXO31	79791	HP:0000268	Dolichocephaly
OMIM:614202	FBXO31	79791	HP:0001513	Obesity
OMIM:614202	FBXO31	79791	HP:0002342	Intellectual disability, moderate
OMIM:614202	FBXO31	79791	HP:0001263	Global developmental delay
OMIM:614202	FBXO31	79791	HP:0000316	Hypertelorism
OMIM:614202	FBXO31	79791	HP:0000494	Downslanted palpebral fissures
OMIM:614202	FBXO31	79791	HP:0011229	Broad eyebrow
OMIM:614202	FBXO31	79791	HP:0000448	Prominent nose
OMIM:614202	FBXO31	79791	HP:0000718	Aggressive behavior
OMIM:614202	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:614202	FBXO31	79791	HP:0000272	Malar flattening
OMIM:614202	FBXO31	79791	HP:0000431	Wide nasal bridge
OMIM:614202	FBXO31	79791	HP:0000322	Short philtrum
OMIM:614202	FBXO31	79791	HP:0000319	Smooth philtrum
OMIM:614202	FBXO31	79791	HP:0000276	Long face
OMIM:614202	FBXO31	79791	HP:0000307	Pointed chin
OMIM:614202	FBXO31	79791	HP:0000219	Thin upper lip vermilion
OMIM:614202	FBXO31	79791	HP:0004523	Long eyebrows
OMIM:614202	FBXO31	79791	HP:0001250	Seizures
OMIM:614202	CRBN	51185	HP:0000268	Dolichocephaly
OMIM:614202	CRBN	51185	HP:0001513	Obesity
OMIM:614202	CRBN	51185	HP:0002342	Intellectual disability, moderate
OMIM:614202	CRBN	51185	HP:0001263	Global developmental delay
OMIM:614202	CRBN	51185	HP:0000316	Hypertelorism
OMIM:614202	CRBN	51185	HP:0000494	Downslanted palpebral fissures
OMIM:614202	CRBN	51185	HP:0011229	Broad eyebrow
OMIM:614202	CRBN	51185	HP:0000448	Prominent nose
OMIM:614202	CRBN	51185	HP:0000718	Aggressive behavior
OMIM:614202	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:614202	CRBN	51185	HP:0000272	Malar flattening
OMIM:614202	CRBN	51185	HP:0000431	Wide nasal bridge
OMIM:614202	CRBN	51185	HP:0000322	Short philtrum
OMIM:614202	CRBN	51185	HP:0000319	Smooth philtrum
OMIM:614202	CRBN	51185	HP:0000276	Long face
OMIM:614202	CRBN	51185	HP:0000307	Pointed chin
OMIM:614202	CRBN	51185	HP:0000219	Thin upper lip vermilion
OMIM:614202	CRBN	51185	HP:0004523	Long eyebrows
OMIM:614202	CRBN	51185	HP:0001250	Seizures
OMIM:614202	TRAPPC9	83696	HP:0000268	Dolichocephaly
OMIM:614202	TRAPPC9	83696	HP:0001513	Obesity
OMIM:614202	TRAPPC9	83696	HP:0002342	Intellectual disability, moderate
OMIM:614202	TRAPPC9	83696	HP:0001263	Global developmental delay
OMIM:614202	TRAPPC9	83696	HP:0000316	Hypertelorism
OMIM:614202	TRAPPC9	83696	HP:0000494	Downslanted palpebral fissures
OMIM:614202	TRAPPC9	83696	HP:0011229	Broad eyebrow
OMIM:614202	TRAPPC9	83696	HP:0000448	Prominent nose
OMIM:614202	TRAPPC9	83696	HP:0000718	Aggressive behavior
OMIM:614202	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:614202	TRAPPC9	83696	HP:0000272	Malar flattening
OMIM:614202	TRAPPC9	83696	HP:0000431	Wide nasal bridge
OMIM:614202	TRAPPC9	83696	HP:0000322	Short philtrum
OMIM:614202	TRAPPC9	83696	HP:0000319	Smooth philtrum
OMIM:614202	TRAPPC9	83696	HP:0000276	Long face
OMIM:614202	TRAPPC9	83696	HP:0000307	Pointed chin
OMIM:614202	TRAPPC9	83696	HP:0000219	Thin upper lip vermilion
OMIM:614202	TRAPPC9	83696	HP:0004523	Long eyebrows
OMIM:614202	TRAPPC9	83696	HP:0001250	Seizures
OMIM:614202	GRIK2	2898	HP:0000268	Dolichocephaly
OMIM:614202	GRIK2	2898	HP:0001513	Obesity
OMIM:614202	GRIK2	2898	HP:0002342	Intellectual disability, moderate
OMIM:614202	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:614202	GRIK2	2898	HP:0000316	Hypertelorism
OMIM:614202	GRIK2	2898	HP:0000494	Downslanted palpebral fissures
OMIM:614202	GRIK2	2898	HP:0011229	Broad eyebrow
OMIM:614202	GRIK2	2898	HP:0000448	Prominent nose
OMIM:614202	GRIK2	2898	HP:0000718	Aggressive behavior
OMIM:614202	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:614202	GRIK2	2898	HP:0000272	Malar flattening
OMIM:614202	GRIK2	2898	HP:0000431	Wide nasal bridge
OMIM:614202	GRIK2	2898	HP:0000322	Short philtrum
OMIM:614202	GRIK2	2898	HP:0000319	Smooth philtrum
OMIM:614202	GRIK2	2898	HP:0000276	Long face
OMIM:614202	GRIK2	2898	HP:0000307	Pointed chin
OMIM:614202	GRIK2	2898	HP:0000219	Thin upper lip vermilion
OMIM:614202	GRIK2	2898	HP:0004523	Long eyebrows
OMIM:614202	GRIK2	2898	HP:0001250	Seizures
OMIM:614202	SLC6A17	388662	HP:0000268	Dolichocephaly
OMIM:614202	SLC6A17	388662	HP:0001513	Obesity
OMIM:614202	SLC6A17	388662	HP:0002342	Intellectual disability, moderate
OMIM:614202	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:614202	SLC6A17	388662	HP:0000316	Hypertelorism
OMIM:614202	SLC6A17	388662	HP:0000494	Downslanted palpebral fissures
OMIM:614202	SLC6A17	388662	HP:0011229	Broad eyebrow
OMIM:614202	SLC6A17	388662	HP:0000448	Prominent nose
OMIM:614202	SLC6A17	388662	HP:0000718	Aggressive behavior
OMIM:614202	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:614202	SLC6A17	388662	HP:0000272	Malar flattening
OMIM:614202	SLC6A17	388662	HP:0000431	Wide nasal bridge
OMIM:614202	SLC6A17	388662	HP:0000322	Short philtrum
OMIM:614202	SLC6A17	388662	HP:0000319	Smooth philtrum
OMIM:614202	SLC6A17	388662	HP:0000276	Long face
OMIM:614202	SLC6A17	388662	HP:0000307	Pointed chin
OMIM:614202	SLC6A17	388662	HP:0000219	Thin upper lip vermilion
OMIM:614202	SLC6A17	388662	HP:0004523	Long eyebrows
OMIM:614202	SLC6A17	388662	HP:0001250	Seizures
OMIM:614202	TECR	9524	HP:0000268	Dolichocephaly
OMIM:614202	TECR	9524	HP:0001513	Obesity
OMIM:614202	TECR	9524	HP:0002342	Intellectual disability, moderate
OMIM:614202	TECR	9524	HP:0001263	Global developmental delay
OMIM:614202	TECR	9524	HP:0000316	Hypertelorism
OMIM:614202	TECR	9524	HP:0000494	Downslanted palpebral fissures
OMIM:614202	TECR	9524	HP:0011229	Broad eyebrow
OMIM:614202	TECR	9524	HP:0000448	Prominent nose
OMIM:614202	TECR	9524	HP:0000718	Aggressive behavior
OMIM:614202	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:614202	TECR	9524	HP:0000272	Malar flattening
OMIM:614202	TECR	9524	HP:0000431	Wide nasal bridge
OMIM:614202	TECR	9524	HP:0000322	Short philtrum
OMIM:614202	TECR	9524	HP:0000319	Smooth philtrum
OMIM:614202	TECR	9524	HP:0000276	Long face
OMIM:614202	TECR	9524	HP:0000307	Pointed chin
OMIM:614202	TECR	9524	HP:0000219	Thin upper lip vermilion
OMIM:614202	TECR	9524	HP:0004523	Long eyebrows
OMIM:614202	TECR	9524	HP:0001250	Seizures
OMIM:614202	MAN1B1	11253	HP:0000268	Dolichocephaly
OMIM:614202	MAN1B1	11253	HP:0001513	Obesity
OMIM:614202	MAN1B1	11253	HP:0002342	Intellectual disability, moderate
OMIM:614202	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:614202	MAN1B1	11253	HP:0000316	Hypertelorism
OMIM:614202	MAN1B1	11253	HP:0000494	Downslanted palpebral fissures
OMIM:614202	MAN1B1	11253	HP:0011229	Broad eyebrow
OMIM:614202	MAN1B1	11253	HP:0000448	Prominent nose
OMIM:614202	MAN1B1	11253	HP:0000718	Aggressive behavior
OMIM:614202	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:614202	MAN1B1	11253	HP:0000272	Malar flattening
OMIM:614202	MAN1B1	11253	HP:0000431	Wide nasal bridge
OMIM:614202	MAN1B1	11253	HP:0000322	Short philtrum
OMIM:614202	MAN1B1	11253	HP:0000319	Smooth philtrum
OMIM:614202	MAN1B1	11253	HP:0000276	Long face
OMIM:614202	MAN1B1	11253	HP:0000307	Pointed chin
OMIM:614202	MAN1B1	11253	HP:0000219	Thin upper lip vermilion
OMIM:614202	MAN1B1	11253	HP:0004523	Long eyebrows
OMIM:614202	MAN1B1	11253	HP:0001250	Seizures
OMIM:614202	TUSC3	7991	HP:0000268	Dolichocephaly
OMIM:614202	TUSC3	7991	HP:0001513	Obesity
OMIM:614202	TUSC3	7991	HP:0002342	Intellectual disability, moderate
OMIM:614202	TUSC3	7991	HP:0001263	Global developmental delay
OMIM:614202	TUSC3	7991	HP:0000316	Hypertelorism
OMIM:614202	TUSC3	7991	HP:0000494	Downslanted palpebral fissures
OMIM:614202	TUSC3	7991	HP:0011229	Broad eyebrow
OMIM:614202	TUSC3	7991	HP:0000448	Prominent nose
OMIM:614202	TUSC3	7991	HP:0000718	Aggressive behavior
OMIM:614202	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:614202	TUSC3	7991	HP:0000272	Malar flattening
OMIM:614202	TUSC3	7991	HP:0000431	Wide nasal bridge
OMIM:614202	TUSC3	7991	HP:0000322	Short philtrum
OMIM:614202	TUSC3	7991	HP:0000319	Smooth philtrum
OMIM:614202	TUSC3	7991	HP:0000276	Long face
OMIM:614202	TUSC3	7991	HP:0000307	Pointed chin
OMIM:614202	TUSC3	7991	HP:0000219	Thin upper lip vermilion
OMIM:614202	TUSC3	7991	HP:0004523	Long eyebrows
OMIM:614202	TUSC3	7991	HP:0001250	Seizures
OMIM:614202	ST3GAL3	6487	HP:0000268	Dolichocephaly
OMIM:614202	ST3GAL3	6487	HP:0001513	Obesity
OMIM:614202	ST3GAL3	6487	HP:0002342	Intellectual disability, moderate
OMIM:614202	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:614202	ST3GAL3	6487	HP:0000316	Hypertelorism
OMIM:614202	ST3GAL3	6487	HP:0000494	Downslanted palpebral fissures
OMIM:614202	ST3GAL3	6487	HP:0011229	Broad eyebrow
OMIM:614202	ST3GAL3	6487	HP:0000448	Prominent nose
OMIM:614202	ST3GAL3	6487	HP:0000718	Aggressive behavior
OMIM:614202	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:614202	ST3GAL3	6487	HP:0000272	Malar flattening
OMIM:614202	ST3GAL3	6487	HP:0000431	Wide nasal bridge
OMIM:614202	ST3GAL3	6487	HP:0000322	Short philtrum
OMIM:614202	ST3GAL3	6487	HP:0000319	Smooth philtrum
OMIM:614202	ST3GAL3	6487	HP:0000276	Long face
OMIM:614202	ST3GAL3	6487	HP:0000307	Pointed chin
OMIM:614202	ST3GAL3	6487	HP:0000219	Thin upper lip vermilion
OMIM:614202	ST3GAL3	6487	HP:0004523	Long eyebrows
OMIM:614202	ST3GAL3	6487	HP:0001250	Seizures
OMIM:614202	EDC3	80153	HP:0000268	Dolichocephaly
OMIM:614202	EDC3	80153	HP:0001513	Obesity
OMIM:614202	EDC3	80153	HP:0002342	Intellectual disability, moderate
OMIM:614202	EDC3	80153	HP:0001263	Global developmental delay
OMIM:614202	EDC3	80153	HP:0000316	Hypertelorism
OMIM:614202	EDC3	80153	HP:0000494	Downslanted palpebral fissures
OMIM:614202	EDC3	80153	HP:0011229	Broad eyebrow
OMIM:614202	EDC3	80153	HP:0000448	Prominent nose
OMIM:614202	EDC3	80153	HP:0000718	Aggressive behavior
OMIM:614202	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:614202	EDC3	80153	HP:0000272	Malar flattening
OMIM:614202	EDC3	80153	HP:0000431	Wide nasal bridge
OMIM:614202	EDC3	80153	HP:0000322	Short philtrum
OMIM:614202	EDC3	80153	HP:0000319	Smooth philtrum
OMIM:614202	EDC3	80153	HP:0000276	Long face
OMIM:614202	EDC3	80153	HP:0000307	Pointed chin
OMIM:614202	EDC3	80153	HP:0000219	Thin upper lip vermilion
OMIM:614202	EDC3	80153	HP:0004523	Long eyebrows
OMIM:614202	EDC3	80153	HP:0001250	Seizures
OMIM:614202	MED13L	23389	HP:0000268	Dolichocephaly
OMIM:614202	MED13L	23389	HP:0001513	Obesity
OMIM:614202	MED13L	23389	HP:0002342	Intellectual disability, moderate
OMIM:614202	MED13L	23389	HP:0001263	Global developmental delay
OMIM:614202	MED13L	23389	HP:0000316	Hypertelorism
OMIM:614202	MED13L	23389	HP:0000494	Downslanted palpebral fissures
OMIM:614202	MED13L	23389	HP:0011229	Broad eyebrow
OMIM:614202	MED13L	23389	HP:0000448	Prominent nose
OMIM:614202	MED13L	23389	HP:0000718	Aggressive behavior
OMIM:614202	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:614202	MED13L	23389	HP:0000272	Malar flattening
OMIM:614202	MED13L	23389	HP:0000431	Wide nasal bridge
OMIM:614202	MED13L	23389	HP:0000322	Short philtrum
OMIM:614202	MED13L	23389	HP:0000319	Smooth philtrum
OMIM:614202	MED13L	23389	HP:0000276	Long face
OMIM:614202	MED13L	23389	HP:0000307	Pointed chin
OMIM:614202	MED13L	23389	HP:0000219	Thin upper lip vermilion
OMIM:614202	MED13L	23389	HP:0004523	Long eyebrows
OMIM:614202	MED13L	23389	HP:0001250	Seizures
OMIM:614202	KIAA1033	23325	HP:0000268	Dolichocephaly
OMIM:614202	KIAA1033	23325	HP:0001513	Obesity
OMIM:614202	KIAA1033	23325	HP:0002342	Intellectual disability, moderate
OMIM:614202	KIAA1033	23325	HP:0001263	Global developmental delay
OMIM:614202	KIAA1033	23325	HP:0000316	Hypertelorism
OMIM:614202	KIAA1033	23325	HP:0000494	Downslanted palpebral fissures
OMIM:614202	KIAA1033	23325	HP:0011229	Broad eyebrow
OMIM:614202	KIAA1033	23325	HP:0000448	Prominent nose
OMIM:614202	KIAA1033	23325	HP:0000718	Aggressive behavior
OMIM:614202	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:614202	KIAA1033	23325	HP:0000272	Malar flattening
OMIM:614202	KIAA1033	23325	HP:0000431	Wide nasal bridge
OMIM:614202	KIAA1033	23325	HP:0000322	Short philtrum
OMIM:614202	KIAA1033	23325	HP:0000319	Smooth philtrum
OMIM:614202	KIAA1033	23325	HP:0000276	Long face
OMIM:614202	KIAA1033	23325	HP:0000307	Pointed chin
OMIM:614202	KIAA1033	23325	HP:0000219	Thin upper lip vermilion
OMIM:614202	KIAA1033	23325	HP:0004523	Long eyebrows
OMIM:614202	KIAA1033	23325	HP:0001250	Seizures
OMIM:614202	MED23	9439	HP:0000268	Dolichocephaly
OMIM:614202	MED23	9439	HP:0001513	Obesity
OMIM:614202	MED23	9439	HP:0002342	Intellectual disability, moderate
OMIM:614202	MED23	9439	HP:0001263	Global developmental delay
OMIM:614202	MED23	9439	HP:0000316	Hypertelorism
OMIM:614202	MED23	9439	HP:0000494	Downslanted palpebral fissures
OMIM:614202	MED23	9439	HP:0011229	Broad eyebrow
OMIM:614202	MED23	9439	HP:0000448	Prominent nose
OMIM:614202	MED23	9439	HP:0000718	Aggressive behavior
OMIM:614202	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:614202	MED23	9439	HP:0000272	Malar flattening
OMIM:614202	MED23	9439	HP:0000431	Wide nasal bridge
OMIM:614202	MED23	9439	HP:0000322	Short philtrum
OMIM:614202	MED23	9439	HP:0000319	Smooth philtrum
OMIM:614202	MED23	9439	HP:0000276	Long face
OMIM:614202	MED23	9439	HP:0000307	Pointed chin
OMIM:614202	MED23	9439	HP:0000219	Thin upper lip vermilion
OMIM:614202	MED23	9439	HP:0004523	Long eyebrows
OMIM:614202	MED23	9439	HP:0001250	Seizures
OMIM:153700	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:153700	BEST1	7439	HP:0001139	Choroideremia
OMIM:153700	BEST1	7439	HP:0000505	Visual impairment
OMIM:153700	BEST1	7439	HP:0000512	Abnormal electroretinogram
OMIM:153700	BEST1	7439	HP:0000551	Abnormality of color vision
OMIM:153700	BEST1	7439	HP:0008028	Cystoid macular degeneration
OMIM:153700	BEST1	7439	HP:0001123	Visual field defect
OMIM:153700	BEST1	7439	HP:0001103	Abnormality of the macula
OMIM:153700	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:615615	CD3D	915	HP:0002205	Recurrent respiratory infections
OMIM:615615	CD3D	915	HP:0003828	Variable expressivity
OMIM:615615	CD3D	915	HP:0000007	Autosomal recessive inheritance
OMIM:615615	CD3D	915	HP:0002721	Immunodeficiency
OMIM:615615	CD3D	915	HP:0003593	Infantile onset
OMIM:615615	CD3D	915	HP:0000403	Recurrent otitis media
OMIM:615615	CD3E	916	HP:0002205	Recurrent respiratory infections
OMIM:615615	CD3E	916	HP:0003828	Variable expressivity
OMIM:615615	CD3E	916	HP:0000007	Autosomal recessive inheritance
OMIM:615615	CD3E	916	HP:0002721	Immunodeficiency
OMIM:615615	CD3E	916	HP:0003593	Infantile onset
OMIM:615615	CD3E	916	HP:0000403	Recurrent otitis media
OMIM:615615	CD247	919	HP:0002205	Recurrent respiratory infections
OMIM:615615	CD247	919	HP:0003828	Variable expressivity
OMIM:615615	CD247	919	HP:0000007	Autosomal recessive inheritance
OMIM:615615	CD247	919	HP:0002721	Immunodeficiency
OMIM:615615	CD247	919	HP:0003593	Infantile onset
OMIM:615615	CD247	919	HP:0000403	Recurrent otitis media
OMIM:610154	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:610154	MSRB3	253827	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:610154	BSND	7809	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:610154	ESPN	83715	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:610154	DFNB31	25861	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:610154	OTOA	146183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:610154	GJA1	2697	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:610154	MET	4233	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:610154	CLDN14	23562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:610154	HGF	3082	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:610154	PNPT1	87178	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:610154	EPS8	2059	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:610154	MYO3A	53904	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:610154	DCDC2	51473	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:610154	GJB2	2706	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:610154	GJB3	2707	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:610154	CABP2	51475	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:610154	GRXCR2	643226	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:610154	SERPINB6	5269	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:610154	COL11A2	1302	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:610154	CIB2	10518	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:610154	FAM65B	9750	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:610154	KARS	3735	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:610154	LOXHD1	125336	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:610154	TMC1	117531	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:610154	CLIC5	53405	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:610154	OTOF	9381	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:610154	MYO6	4646	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:610154	TMIE	259236	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:610154	MYO7A	4647	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:610154	LRTOMT	220074	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:610154	OTOGL	283310	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:610154	TPRN	286262	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:610154	SLC26A4	5172	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:610154	GJB6	10804	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:610154	DFNB59	494513	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:610154	ESRRB	2103	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:610154	TMPRSS3	64699	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:610154	PTPRQ	374462	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:610154	SLC26A5	375611	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:610154	PCDH15	65217	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:610154	TSPEAR	54084	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:610154	LHFPL5	222662	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:610154	TRIOBP	11078	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:610154	CDH23	64072	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:610154	RDX	5962	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:610154	GPSM2	29899	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:610154	ELMOD3	84173	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:610154	ILDR1	286676	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:610154	GRXCR1	389207	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:610154	MARVELD2	153562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:610154	STRC	161497	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:610154	SLITRK6	84189	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:610154	TECTA	7007	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:610154	MYO15A	51168	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:610154	USH1C	10083	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:610154	ADCY1	107	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:610154	SYNE4	163183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:610154	GIPC3	126326	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:610154	TBC1D24	57465	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610154	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:610154	OTOG	340990	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:615419	NALCN	259232	HP:0000248	Brachycephaly
OMIM:615419	NALCN	259232	HP:0002650	Scoliosis
OMIM:615419	NALCN	259232	HP:0000319	Smooth philtrum
OMIM:615419	NALCN	259232	HP:0000768	Pectus carinatum
OMIM:615419	NALCN	259232	HP:0000154	Wide mouth
OMIM:615419	NALCN	259232	HP:0000007	Autosomal recessive inheritance
OMIM:615419	NALCN	259232	HP:0001250	Seizures
OMIM:615419	NALCN	259232	HP:0003202	Skeletal muscle atrophy
OMIM:615419	NALCN	259232	HP:0002020	Gastroesophageal reflux
OMIM:615419	NALCN	259232	HP:0000252	Microcephaly
OMIM:615419	NALCN	259232	HP:0001347	Hyperreflexia
OMIM:615419	NALCN	259232	HP:0000369	Low-set ears
OMIM:615419	NALCN	259232	HP:0008936	Muscular hypotonia of the trunk
OMIM:615419	NALCN	259232	HP:0000325	Triangular face
OMIM:615419	NALCN	259232	HP:0008897	Postnatal growth retardation
OMIM:615419	NALCN	259232	HP:0003196	Short nose
OMIM:615419	NALCN	259232	HP:0003676	Progressive
OMIM:615419	NALCN	259232	HP:0000648	Optic atrophy
OMIM:615419	NALCN	259232	HP:0000219	Thin upper lip vermilion
OMIM:615419	NALCN	259232	HP:0000347	Micrognathia
OMIM:615419	NALCN	259232	HP:0003431	Decreased motor nerve conduction velocity
OMIM:615419	NALCN	259232	HP:0000400	Macrotia
OMIM:615419	NALCN	259232	HP:0000639	Nystagmus
OMIM:615419	NALCN	259232	HP:0007256	Abnormal pyramidal signs
OMIM:615419	NALCN	259232	HP:0002019	Constipation
OMIM:615419	NALCN	259232	HP:0011220	Prominent forehead
OMIM:615419	NALCN	259232	HP:0001263	Global developmental delay
OMIM:615419	NALCN	259232	HP:0011968	Feeding difficulties
OMIM:615419	NALCN	259232	HP:0000486	Strabismus
OMIM:615419	NALCN	259232	HP:0000028	Cryptorchidism
OMIM:615419	NALCN	259232	HP:0002510	Spastic tetraplegia
OMIM:616209	CHCHD10	400916	HP:0010628	Facial palsy
OMIM:616209	CHCHD10	400916	HP:0003546	Exercise intolerance
OMIM:616209	CHCHD10	400916	HP:0002151	Increased serum lactate
OMIM:616209	CHCHD10	400916	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616209	CHCHD10	400916	HP:0004322	Short stature
OMIM:300887	COX7B	1349	HP:0000331	Short chin
OMIM:300887	COX7B	1349	HP:0001423	X-linked dominant inheritance
OMIM:300887	COX7B	1349	HP:0001714	Ventricular hypertrophy
OMIM:300887	COX7B	1349	HP:0012448	Delayed myelination
OMIM:300887	COX7B	1349	HP:0001057	Aplasia cutis congenita
OMIM:300887	COX7B	1349	HP:0001852	Sandal gap
OMIM:300887	COX7B	1349	HP:0002553	Highly arched eyebrow
OMIM:300887	COX7B	1349	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300887	COX7B	1349	HP:0001636	Tetralogy of Fallot
OMIM:300887	COX7B	1349	HP:0000505	Visual impairment
OMIM:300887	COX7B	1349	HP:0000543	Optic disc pallor
OMIM:300887	COX7B	1349	HP:0000316	Hypertelorism
OMIM:300887	COX7B	1349	HP:0000343	Long philtrum
OMIM:300887	COX7B	1349	HP:0006610	Wide intermamillary distance
OMIM:300887	COX7B	1349	HP:0000358	Posteriorly rotated ears
OMIM:300887	COX7B	1349	HP:0004322	Short stature
OMIM:300887	COX7B	1349	HP:0001631	Atria septal defect
OMIM:300887	COX7B	1349	HP:0000545	Myopia
OMIM:300887	COX7B	1349	HP:0001263	Global developmental delay
OMIM:300887	COX7B	1349	HP:0000252	Microcephaly
OMIM:300887	COX7B	1349	HP:0000348	High forehead
OMIM:300887	COX7B	1349	HP:0003196	Short nose
OMIM:300887	COX7B	1349	HP:0001999	Abnormal facial shape
OMIM:300887	NDUFB11	54539	HP:0000331	Short chin
OMIM:300887	NDUFB11	54539	HP:0001423	X-linked dominant inheritance
OMIM:300887	NDUFB11	54539	HP:0001714	Ventricular hypertrophy
OMIM:300887	NDUFB11	54539	HP:0012448	Delayed myelination
OMIM:300887	NDUFB11	54539	HP:0001057	Aplasia cutis congenita
OMIM:300887	NDUFB11	54539	HP:0001852	Sandal gap
OMIM:300887	NDUFB11	54539	HP:0002553	Highly arched eyebrow
OMIM:300887	NDUFB11	54539	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300887	NDUFB11	54539	HP:0001636	Tetralogy of Fallot
OMIM:300887	NDUFB11	54539	HP:0000505	Visual impairment
OMIM:300887	NDUFB11	54539	HP:0000543	Optic disc pallor
OMIM:300887	NDUFB11	54539	HP:0000316	Hypertelorism
OMIM:300887	NDUFB11	54539	HP:0000343	Long philtrum
OMIM:300887	NDUFB11	54539	HP:0006610	Wide intermamillary distance
OMIM:300887	NDUFB11	54539	HP:0000358	Posteriorly rotated ears
OMIM:300887	NDUFB11	54539	HP:0004322	Short stature
OMIM:300887	NDUFB11	54539	HP:0001631	Atria septal defect
OMIM:300887	NDUFB11	54539	HP:0000545	Myopia
OMIM:300887	NDUFB11	54539	HP:0001263	Global developmental delay
OMIM:300887	NDUFB11	54539	HP:0000252	Microcephaly
OMIM:300887	NDUFB11	54539	HP:0000348	High forehead
OMIM:300887	NDUFB11	54539	HP:0003196	Short nose
OMIM:300887	NDUFB11	54539	HP:0001999	Abnormal facial shape
OMIM:300887	HCCS	3052	HP:0000331	Short chin
OMIM:300887	HCCS	3052	HP:0001423	X-linked dominant inheritance
OMIM:300887	HCCS	3052	HP:0001714	Ventricular hypertrophy
OMIM:300887	HCCS	3052	HP:0012448	Delayed myelination
OMIM:300887	HCCS	3052	HP:0001057	Aplasia cutis congenita
OMIM:300887	HCCS	3052	HP:0001852	Sandal gap
OMIM:300887	HCCS	3052	HP:0002553	Highly arched eyebrow
OMIM:300887	HCCS	3052	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300887	HCCS	3052	HP:0001636	Tetralogy of Fallot
OMIM:300887	HCCS	3052	HP:0000505	Visual impairment
OMIM:300887	HCCS	3052	HP:0000543	Optic disc pallor
OMIM:300887	HCCS	3052	HP:0000316	Hypertelorism
OMIM:300887	HCCS	3052	HP:0000343	Long philtrum
OMIM:300887	HCCS	3052	HP:0006610	Wide intermamillary distance
OMIM:300887	HCCS	3052	HP:0000358	Posteriorly rotated ears
OMIM:300887	HCCS	3052	HP:0004322	Short stature
OMIM:300887	HCCS	3052	HP:0001631	Atria septal defect
OMIM:300887	HCCS	3052	HP:0000545	Myopia
OMIM:300887	HCCS	3052	HP:0001263	Global developmental delay
OMIM:300887	HCCS	3052	HP:0000252	Microcephaly
OMIM:300887	HCCS	3052	HP:0000348	High forehead
OMIM:300887	HCCS	3052	HP:0003196	Short nose
OMIM:300887	HCCS	3052	HP:0001999	Abnormal facial shape
OMIM:219500	CTH	1491	HP:0000007	Autosomal recessive inheritance
OMIM:607748	EPHX1	2052	HP:0000989	Pruritus
OMIM:607748	EPHX1	2052	HP:0001508	Failure to thrive
OMIM:607748	EPHX1	2052	HP:0002570	Steatorrhea
OMIM:607748	EPHX1	2052	HP:0000007	Autosomal recessive inheritance
OMIM:607748	TJP2	9414	HP:0000989	Pruritus
OMIM:607748	TJP2	9414	HP:0001508	Failure to thrive
OMIM:607748	TJP2	9414	HP:0002570	Steatorrhea
OMIM:607748	TJP2	9414	HP:0000007	Autosomal recessive inheritance
OMIM:607748	BAAT	570	HP:0000989	Pruritus
OMIM:607748	BAAT	570	HP:0001508	Failure to thrive
OMIM:607748	BAAT	570	HP:0002570	Steatorrhea
OMIM:607748	BAAT	570	HP:0000007	Autosomal recessive inheritance
OMIM:300590	SMC1A	8243	HP:0000219	Thin upper lip vermilion
OMIM:300590	SMC1A	8243	HP:0000218	High palate
OMIM:300590	SMC1A	8243	HP:0001773	Short foot
OMIM:300590	SMC1A	8243	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300590	SMC1A	8243	HP:0002119	Ventriculomegaly
OMIM:300590	SMC1A	8243	HP:0001156	Brachydactyly syndrome
OMIM:300590	SMC1A	8243	HP:0009623	Proximal placement of thumb
OMIM:300590	SMC1A	8243	HP:0000252	Microcephaly
OMIM:300590	SMC1A	8243	HP:0000341	Narrow forehead
OMIM:300590	SMC1A	8243	HP:0002714	Downturned corners of mouth
OMIM:300590	SMC1A	8243	HP:0002465	Poor speech
OMIM:300590	SMC1A	8243	HP:0000319	Smooth philtrum
OMIM:300590	SMC1A	8243	HP:0000664	Synophrys
OMIM:300590	SMC1A	8243	HP:0000494	Downslanted palpebral fissures
OMIM:300590	SMC1A	8243	HP:0000508	Ptosis
OMIM:300590	SMC1A	8243	HP:0000426	Prominent nasal bridge
OMIM:300590	SMC1A	8243	HP:0000470	Short neck
OMIM:300590	SMC1A	8243	HP:0000248	Brachycephaly
OMIM:300590	SMC1A	8243	HP:0000463	Anteverted nares
OMIM:300590	SMC1A	8243	HP:0001249	Intellectual disability
OMIM:300590	SMC1A	8243	HP:0001419	X-linked recessive inheritance
OMIM:300590	SMC1A	8243	HP:0000527	Long eyelashes
OMIM:300590	SMC1A	8243	HP:0004322	Short stature
OMIM:300590	SMC1A	8243	HP:0001007	Hirsutism
OMIM:300590	SMC1A	8243	HP:0200055	Small hand
OMIM:300590	SMC1A	8243	HP:0001511	Intrauterine growth retardation
OMIM:300590	SMC1A	8243	HP:0002020	Gastroesophageal reflux
OMIM:300590	SMC1A	8243	HP:0000574	Thick eyebrow
OMIM:300590	SMC1A	8243	HP:0001263	Global developmental delay
OMIM:300590	SMC1A	8243	HP:0000347	Micrognathia
OMIM:300590	SMC1A	8243	HP:0002996	Limited elbow movement
OMIM:300590	SMC1A	8243	HP:0030084	Clinodactyly
OMIM:300590	SMC1A	8243	HP:0100543	Cognitive impairment
OMIM:300590	SMC1A	8243	HP:0000965	Cutis marmorata
OMIM:300590	SMC1A	8243	HP:0002553	Highly arched eyebrow
OMIM:300590	SMC1A	8243	HP:0001250	Seizures
OMIM:300590	SMC1A	8243	HP:0000294	Low anterior hairline
OMIM:300590	SMC3	9126	HP:0000219	Thin upper lip vermilion
OMIM:300590	SMC3	9126	HP:0000218	High palate
OMIM:300590	SMC3	9126	HP:0001773	Short foot
OMIM:300590	SMC3	9126	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300590	SMC3	9126	HP:0002119	Ventriculomegaly
OMIM:300590	SMC3	9126	HP:0001156	Brachydactyly syndrome
OMIM:300590	SMC3	9126	HP:0009623	Proximal placement of thumb
OMIM:300590	SMC3	9126	HP:0000252	Microcephaly
OMIM:300590	SMC3	9126	HP:0000341	Narrow forehead
OMIM:300590	SMC3	9126	HP:0002714	Downturned corners of mouth
OMIM:300590	SMC3	9126	HP:0002465	Poor speech
OMIM:300590	SMC3	9126	HP:0000319	Smooth philtrum
OMIM:300590	SMC3	9126	HP:0000664	Synophrys
OMIM:300590	SMC3	9126	HP:0000494	Downslanted palpebral fissures
OMIM:300590	SMC3	9126	HP:0000508	Ptosis
OMIM:300590	SMC3	9126	HP:0000426	Prominent nasal bridge
OMIM:300590	SMC3	9126	HP:0000470	Short neck
OMIM:300590	SMC3	9126	HP:0000248	Brachycephaly
OMIM:300590	SMC3	9126	HP:0000463	Anteverted nares
OMIM:300590	SMC3	9126	HP:0001249	Intellectual disability
OMIM:300590	SMC3	9126	HP:0001419	X-linked recessive inheritance
OMIM:300590	SMC3	9126	HP:0000527	Long eyelashes
OMIM:300590	SMC3	9126	HP:0004322	Short stature
OMIM:300590	SMC3	9126	HP:0001007	Hirsutism
OMIM:300590	SMC3	9126	HP:0200055	Small hand
OMIM:300590	SMC3	9126	HP:0001511	Intrauterine growth retardation
OMIM:300590	SMC3	9126	HP:0002020	Gastroesophageal reflux
OMIM:300590	SMC3	9126	HP:0000574	Thick eyebrow
OMIM:300590	SMC3	9126	HP:0001263	Global developmental delay
OMIM:300590	SMC3	9126	HP:0000347	Micrognathia
OMIM:300590	SMC3	9126	HP:0002996	Limited elbow movement
OMIM:300590	SMC3	9126	HP:0030084	Clinodactyly
OMIM:300590	SMC3	9126	HP:0100543	Cognitive impairment
OMIM:300590	SMC3	9126	HP:0000965	Cutis marmorata
OMIM:300590	SMC3	9126	HP:0002553	Highly arched eyebrow
OMIM:300590	SMC3	9126	HP:0001250	Seizures
OMIM:300590	SMC3	9126	HP:0000294	Low anterior hairline
OMIM:300590	NIPBL	25836	HP:0000219	Thin upper lip vermilion
OMIM:300590	NIPBL	25836	HP:0000218	High palate
OMIM:300590	NIPBL	25836	HP:0001773	Short foot
OMIM:300590	NIPBL	25836	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300590	NIPBL	25836	HP:0002119	Ventriculomegaly
OMIM:300590	NIPBL	25836	HP:0001156	Brachydactyly syndrome
OMIM:300590	NIPBL	25836	HP:0009623	Proximal placement of thumb
OMIM:300590	NIPBL	25836	HP:0000252	Microcephaly
OMIM:300590	NIPBL	25836	HP:0000341	Narrow forehead
OMIM:300590	NIPBL	25836	HP:0002714	Downturned corners of mouth
OMIM:300590	NIPBL	25836	HP:0002465	Poor speech
OMIM:300590	NIPBL	25836	HP:0000319	Smooth philtrum
OMIM:300590	NIPBL	25836	HP:0000664	Synophrys
OMIM:300590	NIPBL	25836	HP:0000494	Downslanted palpebral fissures
OMIM:300590	NIPBL	25836	HP:0000508	Ptosis
OMIM:300590	NIPBL	25836	HP:0000426	Prominent nasal bridge
OMIM:300590	NIPBL	25836	HP:0000470	Short neck
OMIM:300590	NIPBL	25836	HP:0000248	Brachycephaly
OMIM:300590	NIPBL	25836	HP:0000463	Anteverted nares
OMIM:300590	NIPBL	25836	HP:0001249	Intellectual disability
OMIM:300590	NIPBL	25836	HP:0001419	X-linked recessive inheritance
OMIM:300590	NIPBL	25836	HP:0000527	Long eyelashes
OMIM:300590	NIPBL	25836	HP:0004322	Short stature
OMIM:300590	NIPBL	25836	HP:0001007	Hirsutism
OMIM:300590	NIPBL	25836	HP:0200055	Small hand
OMIM:300590	NIPBL	25836	HP:0001511	Intrauterine growth retardation
OMIM:300590	NIPBL	25836	HP:0002020	Gastroesophageal reflux
OMIM:300590	NIPBL	25836	HP:0000574	Thick eyebrow
OMIM:300590	NIPBL	25836	HP:0001263	Global developmental delay
OMIM:300590	NIPBL	25836	HP:0000347	Micrognathia
OMIM:300590	NIPBL	25836	HP:0002996	Limited elbow movement
OMIM:300590	NIPBL	25836	HP:0030084	Clinodactyly
OMIM:300590	NIPBL	25836	HP:0100543	Cognitive impairment
OMIM:300590	NIPBL	25836	HP:0000965	Cutis marmorata
OMIM:300590	NIPBL	25836	HP:0002553	Highly arched eyebrow
OMIM:300590	NIPBL	25836	HP:0001250	Seizures
OMIM:300590	NIPBL	25836	HP:0000294	Low anterior hairline
OMIM:300590	HDAC8	55869	HP:0000219	Thin upper lip vermilion
OMIM:300590	HDAC8	55869	HP:0000218	High palate
OMIM:300590	HDAC8	55869	HP:0001773	Short foot
OMIM:300590	HDAC8	55869	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300590	HDAC8	55869	HP:0002119	Ventriculomegaly
OMIM:300590	HDAC8	55869	HP:0001156	Brachydactyly syndrome
OMIM:300590	HDAC8	55869	HP:0009623	Proximal placement of thumb
OMIM:300590	HDAC8	55869	HP:0000252	Microcephaly
OMIM:300590	HDAC8	55869	HP:0000341	Narrow forehead
OMIM:300590	HDAC8	55869	HP:0002714	Downturned corners of mouth
OMIM:300590	HDAC8	55869	HP:0002465	Poor speech
OMIM:300590	HDAC8	55869	HP:0000319	Smooth philtrum
OMIM:300590	HDAC8	55869	HP:0000664	Synophrys
OMIM:300590	HDAC8	55869	HP:0000494	Downslanted palpebral fissures
OMIM:300590	HDAC8	55869	HP:0000508	Ptosis
OMIM:300590	HDAC8	55869	HP:0000426	Prominent nasal bridge
OMIM:300590	HDAC8	55869	HP:0000470	Short neck
OMIM:300590	HDAC8	55869	HP:0000248	Brachycephaly
OMIM:300590	HDAC8	55869	HP:0000463	Anteverted nares
OMIM:300590	HDAC8	55869	HP:0001249	Intellectual disability
OMIM:300590	HDAC8	55869	HP:0001419	X-linked recessive inheritance
OMIM:300590	HDAC8	55869	HP:0000527	Long eyelashes
OMIM:300590	HDAC8	55869	HP:0004322	Short stature
OMIM:300590	HDAC8	55869	HP:0001007	Hirsutism
OMIM:300590	HDAC8	55869	HP:0200055	Small hand
OMIM:300590	HDAC8	55869	HP:0001511	Intrauterine growth retardation
OMIM:300590	HDAC8	55869	HP:0002020	Gastroesophageal reflux
OMIM:300590	HDAC8	55869	HP:0000574	Thick eyebrow
OMIM:300590	HDAC8	55869	HP:0001263	Global developmental delay
OMIM:300590	HDAC8	55869	HP:0000347	Micrognathia
OMIM:300590	HDAC8	55869	HP:0002996	Limited elbow movement
OMIM:300590	HDAC8	55869	HP:0030084	Clinodactyly
OMIM:300590	HDAC8	55869	HP:0100543	Cognitive impairment
OMIM:300590	HDAC8	55869	HP:0000965	Cutis marmorata
OMIM:300590	HDAC8	55869	HP:0002553	Highly arched eyebrow
OMIM:300590	HDAC8	55869	HP:0001250	Seizures
OMIM:300590	HDAC8	55869	HP:0000294	Low anterior hairline
OMIM:300590	RAD21	5885	HP:0000219	Thin upper lip vermilion
OMIM:300590	RAD21	5885	HP:0000218	High palate
OMIM:300590	RAD21	5885	HP:0001773	Short foot
OMIM:300590	RAD21	5885	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300590	RAD21	5885	HP:0002119	Ventriculomegaly
OMIM:300590	RAD21	5885	HP:0001156	Brachydactyly syndrome
OMIM:300590	RAD21	5885	HP:0009623	Proximal placement of thumb
OMIM:300590	RAD21	5885	HP:0000252	Microcephaly
OMIM:300590	RAD21	5885	HP:0000341	Narrow forehead
OMIM:300590	RAD21	5885	HP:0002714	Downturned corners of mouth
OMIM:300590	RAD21	5885	HP:0002465	Poor speech
OMIM:300590	RAD21	5885	HP:0000319	Smooth philtrum
OMIM:300590	RAD21	5885	HP:0000664	Synophrys
OMIM:300590	RAD21	5885	HP:0000494	Downslanted palpebral fissures
OMIM:300590	RAD21	5885	HP:0000508	Ptosis
OMIM:300590	RAD21	5885	HP:0000426	Prominent nasal bridge
OMIM:300590	RAD21	5885	HP:0000470	Short neck
OMIM:300590	RAD21	5885	HP:0000248	Brachycephaly
OMIM:300590	RAD21	5885	HP:0000463	Anteverted nares
OMIM:300590	RAD21	5885	HP:0001249	Intellectual disability
OMIM:300590	RAD21	5885	HP:0001419	X-linked recessive inheritance
OMIM:300590	RAD21	5885	HP:0000527	Long eyelashes
OMIM:300590	RAD21	5885	HP:0004322	Short stature
OMIM:300590	RAD21	5885	HP:0001007	Hirsutism
OMIM:300590	RAD21	5885	HP:0200055	Small hand
OMIM:300590	RAD21	5885	HP:0001511	Intrauterine growth retardation
OMIM:300590	RAD21	5885	HP:0002020	Gastroesophageal reflux
OMIM:300590	RAD21	5885	HP:0000574	Thick eyebrow
OMIM:300590	RAD21	5885	HP:0001263	Global developmental delay
OMIM:300590	RAD21	5885	HP:0000347	Micrognathia
OMIM:300590	RAD21	5885	HP:0002996	Limited elbow movement
OMIM:300590	RAD21	5885	HP:0030084	Clinodactyly
OMIM:300590	RAD21	5885	HP:0100543	Cognitive impairment
OMIM:300590	RAD21	5885	HP:0000965	Cutis marmorata
OMIM:300590	RAD21	5885	HP:0002553	Highly arched eyebrow
OMIM:300590	RAD21	5885	HP:0001250	Seizures
OMIM:300590	RAD21	5885	HP:0000294	Low anterior hairline
OMIM:237500	ABCC2	1244	HP:0001080	Biliary tract abnormality
OMIM:237500	ABCC2	1244	HP:0004370	Abnormality of temperature regulation
OMIM:237500	ABCC2	1244	HP:0001928	Abnormality of coagulation
OMIM:237500	ABCC2	1244	HP:0003110	Abnormality of urine homeostasis
OMIM:237500	ABCC2	1244	HP:0000007	Autosomal recessive inheritance
OMIM:237500	ABCC2	1244	HP:0002027	Abdominal pain
OMIM:237500	ABCC2	1244	HP:0002908	Conjugated hyperbilirubinemia
OMIM:237500	ABCC2	1244	HP:0000952	Jaundice
OMIM:237500	ABCC2	1244	HP:0002240	Hepatomegaly
OMIM:237500	ABCC2	1244	HP:0004295	Abnormality of the gastric mucosa
OMIM:616346	KCNB1	3745	HP:0002540	Inability to walk
OMIM:616346	KCNB1	3745	HP:0002376	Developmental regression
OMIM:616346	KCNB1	3745	HP:0001250	Seizures
OMIM:616346	KCNB1	3745	HP:0001344	Absent speech
OMIM:616346	KCNB1	3745	HP:0001263	Global developmental delay
OMIM:616346	KCNB1	3745	HP:0100716	Self-injurious behavior
OMIM:616346	KCNB1	3745	HP:0001252	Muscular hypotonia
OMIM:616346	KCNB1	3745	HP:0002355	Difficulty walking
OMIM:616346	KCNB1	3745	HP:0002059	Cerebral atrophy
OMIM:616346	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:616346	MAPK10	5602	HP:0002540	Inability to walk
OMIM:616346	MAPK10	5602	HP:0002376	Developmental regression
OMIM:616346	MAPK10	5602	HP:0001250	Seizures
OMIM:616346	MAPK10	5602	HP:0001344	Absent speech
OMIM:616346	MAPK10	5602	HP:0001263	Global developmental delay
OMIM:616346	MAPK10	5602	HP:0100716	Self-injurious behavior
OMIM:616346	MAPK10	5602	HP:0001252	Muscular hypotonia
OMIM:616346	MAPK10	5602	HP:0002355	Difficulty walking
OMIM:616346	MAPK10	5602	HP:0002059	Cerebral atrophy
OMIM:616346	MAPK10	5602	HP:0200134	Epileptic encephalopathy
OMIM:616346	PIGQ	9091	HP:0002540	Inability to walk
OMIM:616346	PIGQ	9091	HP:0002376	Developmental regression
OMIM:616346	PIGQ	9091	HP:0001250	Seizures
OMIM:616346	PIGQ	9091	HP:0001344	Absent speech
OMIM:616346	PIGQ	9091	HP:0001263	Global developmental delay
OMIM:616346	PIGQ	9091	HP:0100716	Self-injurious behavior
OMIM:616346	PIGQ	9091	HP:0001252	Muscular hypotonia
OMIM:616346	PIGQ	9091	HP:0002355	Difficulty walking
OMIM:616346	PIGQ	9091	HP:0002059	Cerebral atrophy
OMIM:616346	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:616346	SLC25A22	79751	HP:0002540	Inability to walk
OMIM:616346	SLC25A22	79751	HP:0002376	Developmental regression
OMIM:616346	SLC25A22	79751	HP:0001250	Seizures
OMIM:616346	SLC25A22	79751	HP:0001344	Absent speech
OMIM:616346	SLC25A22	79751	HP:0001263	Global developmental delay
OMIM:616346	SLC25A22	79751	HP:0100716	Self-injurious behavior
OMIM:616346	SLC25A22	79751	HP:0001252	Muscular hypotonia
OMIM:616346	SLC25A22	79751	HP:0002355	Difficulty walking
OMIM:616346	SLC25A22	79751	HP:0002059	Cerebral atrophy
OMIM:616346	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:616346	CDKL5	6792	HP:0002540	Inability to walk
OMIM:616346	CDKL5	6792	HP:0002376	Developmental regression
OMIM:616346	CDKL5	6792	HP:0001250	Seizures
OMIM:616346	CDKL5	6792	HP:0001344	Absent speech
OMIM:616346	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:616346	CDKL5	6792	HP:0100716	Self-injurious behavior
OMIM:616346	CDKL5	6792	HP:0001252	Muscular hypotonia
OMIM:616346	CDKL5	6792	HP:0002355	Difficulty walking
OMIM:616346	CDKL5	6792	HP:0002059	Cerebral atrophy
OMIM:616346	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:616346	KCNQ2	3785	HP:0002540	Inability to walk
OMIM:616346	KCNQ2	3785	HP:0002376	Developmental regression
OMIM:616346	KCNQ2	3785	HP:0001250	Seizures
OMIM:616346	KCNQ2	3785	HP:0001344	Absent speech
OMIM:616346	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:616346	KCNQ2	3785	HP:0100716	Self-injurious behavior
OMIM:616346	KCNQ2	3785	HP:0001252	Muscular hypotonia
OMIM:616346	KCNQ2	3785	HP:0002355	Difficulty walking
OMIM:616346	KCNQ2	3785	HP:0002059	Cerebral atrophy
OMIM:616346	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:616346	SLC13A5	284111	HP:0002540	Inability to walk
OMIM:616346	SLC13A5	284111	HP:0002376	Developmental regression
OMIM:616346	SLC13A5	284111	HP:0001250	Seizures
OMIM:616346	SLC13A5	284111	HP:0001344	Absent speech
OMIM:616346	SLC13A5	284111	HP:0001263	Global developmental delay
OMIM:616346	SLC13A5	284111	HP:0100716	Self-injurious behavior
OMIM:616346	SLC13A5	284111	HP:0001252	Muscular hypotonia
OMIM:616346	SLC13A5	284111	HP:0002355	Difficulty walking
OMIM:616346	SLC13A5	284111	HP:0002059	Cerebral atrophy
OMIM:616346	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:616346	SIK1	150094	HP:0002540	Inability to walk
OMIM:616346	SIK1	150094	HP:0002376	Developmental regression
OMIM:616346	SIK1	150094	HP:0001250	Seizures
OMIM:616346	SIK1	150094	HP:0001344	Absent speech
OMIM:616346	SIK1	150094	HP:0001263	Global developmental delay
OMIM:616346	SIK1	150094	HP:0100716	Self-injurious behavior
OMIM:616346	SIK1	150094	HP:0001252	Muscular hypotonia
OMIM:616346	SIK1	150094	HP:0002355	Difficulty walking
OMIM:616346	SIK1	150094	HP:0002059	Cerebral atrophy
OMIM:616346	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:616346	HCN1	348980	HP:0002540	Inability to walk
OMIM:616346	HCN1	348980	HP:0002376	Developmental regression
OMIM:616346	HCN1	348980	HP:0001250	Seizures
OMIM:616346	HCN1	348980	HP:0001344	Absent speech
OMIM:616346	HCN1	348980	HP:0001263	Global developmental delay
OMIM:616346	HCN1	348980	HP:0100716	Self-injurious behavior
OMIM:616346	HCN1	348980	HP:0001252	Muscular hypotonia
OMIM:616346	HCN1	348980	HP:0002355	Difficulty walking
OMIM:616346	HCN1	348980	HP:0002059	Cerebral atrophy
OMIM:616346	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:616346	CHD2	1106	HP:0002540	Inability to walk
OMIM:616346	CHD2	1106	HP:0002376	Developmental regression
OMIM:616346	CHD2	1106	HP:0001250	Seizures
OMIM:616346	CHD2	1106	HP:0001344	Absent speech
OMIM:616346	CHD2	1106	HP:0001263	Global developmental delay
OMIM:616346	CHD2	1106	HP:0100716	Self-injurious behavior
OMIM:616346	CHD2	1106	HP:0001252	Muscular hypotonia
OMIM:616346	CHD2	1106	HP:0002355	Difficulty walking
OMIM:616346	CHD2	1106	HP:0002059	Cerebral atrophy
OMIM:616346	CHD2	1106	HP:0200134	Epileptic encephalopathy
OMIM:616346	SCN1A	6323	HP:0002540	Inability to walk
OMIM:616346	SCN1A	6323	HP:0002376	Developmental regression
OMIM:616346	SCN1A	6323	HP:0001250	Seizures
OMIM:616346	SCN1A	6323	HP:0001344	Absent speech
OMIM:616346	SCN1A	6323	HP:0001263	Global developmental delay
OMIM:616346	SCN1A	6323	HP:0100716	Self-injurious behavior
OMIM:616346	SCN1A	6323	HP:0001252	Muscular hypotonia
OMIM:616346	SCN1A	6323	HP:0002355	Difficulty walking
OMIM:616346	SCN1A	6323	HP:0002059	Cerebral atrophy
OMIM:616346	SCN1A	6323	HP:0200134	Epileptic encephalopathy
OMIM:616346	PNKP	11284	HP:0002540	Inability to walk
OMIM:616346	PNKP	11284	HP:0002376	Developmental regression
OMIM:616346	PNKP	11284	HP:0001250	Seizures
OMIM:616346	PNKP	11284	HP:0001344	Absent speech
OMIM:616346	PNKP	11284	HP:0001263	Global developmental delay
OMIM:616346	PNKP	11284	HP:0100716	Self-injurious behavior
OMIM:616346	PNKP	11284	HP:0001252	Muscular hypotonia
OMIM:616346	PNKP	11284	HP:0002355	Difficulty walking
OMIM:616346	PNKP	11284	HP:0002059	Cerebral atrophy
OMIM:616346	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:616346	SCN2A	6326	HP:0002540	Inability to walk
OMIM:616346	SCN2A	6326	HP:0002376	Developmental regression
OMIM:616346	SCN2A	6326	HP:0001250	Seizures
OMIM:616346	SCN2A	6326	HP:0001344	Absent speech
OMIM:616346	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:616346	SCN2A	6326	HP:0100716	Self-injurious behavior
OMIM:616346	SCN2A	6326	HP:0001252	Muscular hypotonia
OMIM:616346	SCN2A	6326	HP:0002355	Difficulty walking
OMIM:616346	SCN2A	6326	HP:0002059	Cerebral atrophy
OMIM:616346	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:616346	GNAO1	2775	HP:0002540	Inability to walk
OMIM:616346	GNAO1	2775	HP:0002376	Developmental regression
OMIM:616346	GNAO1	2775	HP:0001250	Seizures
OMIM:616346	GNAO1	2775	HP:0001344	Absent speech
OMIM:616346	GNAO1	2775	HP:0001263	Global developmental delay
OMIM:616346	GNAO1	2775	HP:0100716	Self-injurious behavior
OMIM:616346	GNAO1	2775	HP:0001252	Muscular hypotonia
OMIM:616346	GNAO1	2775	HP:0002355	Difficulty walking
OMIM:616346	GNAO1	2775	HP:0002059	Cerebral atrophy
OMIM:616346	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:616346	NECAP1	25977	HP:0002540	Inability to walk
OMIM:616346	NECAP1	25977	HP:0002376	Developmental regression
OMIM:616346	NECAP1	25977	HP:0001250	Seizures
OMIM:616346	NECAP1	25977	HP:0001344	Absent speech
OMIM:616346	NECAP1	25977	HP:0001263	Global developmental delay
OMIM:616346	NECAP1	25977	HP:0100716	Self-injurious behavior
OMIM:616346	NECAP1	25977	HP:0001252	Muscular hypotonia
OMIM:616346	NECAP1	25977	HP:0002355	Difficulty walking
OMIM:616346	NECAP1	25977	HP:0002059	Cerebral atrophy
OMIM:616346	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:616346	ARX	170302	HP:0002540	Inability to walk
OMIM:616346	ARX	170302	HP:0002376	Developmental regression
OMIM:616346	ARX	170302	HP:0001250	Seizures
OMIM:616346	ARX	170302	HP:0001344	Absent speech
OMIM:616346	ARX	170302	HP:0001263	Global developmental delay
OMIM:616346	ARX	170302	HP:0100716	Self-injurious behavior
OMIM:616346	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:616346	ARX	170302	HP:0002355	Difficulty walking
OMIM:616346	ARX	170302	HP:0002059	Cerebral atrophy
OMIM:616346	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:616346	STXBP1	6812	HP:0002540	Inability to walk
OMIM:616346	STXBP1	6812	HP:0002376	Developmental regression
OMIM:616346	STXBP1	6812	HP:0001250	Seizures
OMIM:616346	STXBP1	6812	HP:0001344	Absent speech
OMIM:616346	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:616346	STXBP1	6812	HP:0100716	Self-injurious behavior
OMIM:616346	STXBP1	6812	HP:0001252	Muscular hypotonia
OMIM:616346	STXBP1	6812	HP:0002355	Difficulty walking
OMIM:616346	STXBP1	6812	HP:0002059	Cerebral atrophy
OMIM:616346	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:616346	WWOX	51741	HP:0002540	Inability to walk
OMIM:616346	WWOX	51741	HP:0002376	Developmental regression
OMIM:616346	WWOX	51741	HP:0001250	Seizures
OMIM:616346	WWOX	51741	HP:0001344	Absent speech
OMIM:616346	WWOX	51741	HP:0001263	Global developmental delay
OMIM:616346	WWOX	51741	HP:0100716	Self-injurious behavior
OMIM:616346	WWOX	51741	HP:0001252	Muscular hypotonia
OMIM:616346	WWOX	51741	HP:0002355	Difficulty walking
OMIM:616346	WWOX	51741	HP:0002059	Cerebral atrophy
OMIM:616346	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:616346	CASK	8573	HP:0002540	Inability to walk
OMIM:616346	CASK	8573	HP:0002376	Developmental regression
OMIM:616346	CASK	8573	HP:0001250	Seizures
OMIM:616346	CASK	8573	HP:0001344	Absent speech
OMIM:616346	CASK	8573	HP:0001263	Global developmental delay
OMIM:616346	CASK	8573	HP:0100716	Self-injurious behavior
OMIM:616346	CASK	8573	HP:0001252	Muscular hypotonia
OMIM:616346	CASK	8573	HP:0002355	Difficulty walking
OMIM:616346	CASK	8573	HP:0002059	Cerebral atrophy
OMIM:616346	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:616346	SCN8A	6334	HP:0002540	Inability to walk
OMIM:616346	SCN8A	6334	HP:0002376	Developmental regression
OMIM:616346	SCN8A	6334	HP:0001250	Seizures
OMIM:616346	SCN8A	6334	HP:0001344	Absent speech
OMIM:616346	SCN8A	6334	HP:0001263	Global developmental delay
OMIM:616346	SCN8A	6334	HP:0100716	Self-injurious behavior
OMIM:616346	SCN8A	6334	HP:0001252	Muscular hypotonia
OMIM:616346	SCN8A	6334	HP:0002355	Difficulty walking
OMIM:616346	SCN8A	6334	HP:0002059	Cerebral atrophy
OMIM:616346	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:616346	DNM1	1759	HP:0002540	Inability to walk
OMIM:616346	DNM1	1759	HP:0002376	Developmental regression
OMIM:616346	DNM1	1759	HP:0001250	Seizures
OMIM:616346	DNM1	1759	HP:0001344	Absent speech
OMIM:616346	DNM1	1759	HP:0001263	Global developmental delay
OMIM:616346	DNM1	1759	HP:0100716	Self-injurious behavior
OMIM:616346	DNM1	1759	HP:0001252	Muscular hypotonia
OMIM:616346	DNM1	1759	HP:0002355	Difficulty walking
OMIM:616346	DNM1	1759	HP:0002059	Cerebral atrophy
OMIM:616346	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:609813	LFNG	3955	HP:0003422	Vertebral segmentation defect
OMIM:609813	LFNG	3955	HP:0000007	Autosomal recessive inheritance
OMIM:609813	LFNG	3955	HP:0002650	Scoliosis
OMIM:609813	LFNG	3955	HP:0001238	Slender finger
OMIM:609813	MESP2	145873	HP:0003422	Vertebral segmentation defect
OMIM:609813	MESP2	145873	HP:0000007	Autosomal recessive inheritance
OMIM:609813	MESP2	145873	HP:0002650	Scoliosis
OMIM:609813	MESP2	145873	HP:0001238	Slender finger
OMIM:609813	HES7	84667	HP:0003422	Vertebral segmentation defect
OMIM:609813	HES7	84667	HP:0000007	Autosomal recessive inheritance
OMIM:609813	HES7	84667	HP:0002650	Scoliosis
OMIM:609813	HES7	84667	HP:0001238	Slender finger
OMIM:609813	DLL3	10683	HP:0003422	Vertebral segmentation defect
OMIM:609813	DLL3	10683	HP:0000007	Autosomal recessive inheritance
OMIM:609813	DLL3	10683	HP:0002650	Scoliosis
OMIM:609813	DLL3	10683	HP:0001238	Slender finger
OMIM:609813	RIPPLY2	134701	HP:0003422	Vertebral segmentation defect
OMIM:609813	RIPPLY2	134701	HP:0000007	Autosomal recessive inheritance
OMIM:609813	RIPPLY2	134701	HP:0002650	Scoliosis
OMIM:609813	RIPPLY2	134701	HP:0001238	Slender finger
OMIM:300400	IL2RG	3561	HP:0002841	Recurrent fungal infections
OMIM:300400	IL2RG	3561	HP:0000778	Hypoplasia of the thymus
OMIM:300400	IL2RG	3561	HP:0001508	Failure to thrive
OMIM:300400	IL2RG	3561	HP:0007274	Recurrent bacterial meningitis
OMIM:300400	IL2RG	3561	HP:0001419	X-linked recessive inheritance
OMIM:300400	IL2RG	3561	HP:0009098	Chronic oral candidiasis
OMIM:300400	IL2RG	3561	HP:0002240	Hepatomegaly
OMIM:300400	IL2RG	3561	HP:0002028	Chronic diarrhea
OMIM:300400	IL2RG	3561	HP:0000988	Skin rash
OMIM:300400	IL2RG	3561	HP:0002090	Pneumonia
OMIM:300400	IL2RG	3561	HP:0004430	Severe combined immunodeficiency
OMIM:300400	IL2RG	3561	HP:0004432	Agammaglobulinemia
OMIM:242050	SLC22A12	116085	HP:0000924	Abnormality of the skeletal system
OMIM:242050	SLC22A12	116085	HP:0002150	Hypercalciuria
OMIM:242050	SLC22A12	116085	HP:0000007	Autosomal recessive inheritance
OMIM:242050	SLC2A9	56606	HP:0000924	Abnormality of the skeletal system
OMIM:242050	SLC2A9	56606	HP:0002150	Hypercalciuria
OMIM:242050	SLC2A9	56606	HP:0000007	Autosomal recessive inheritance
OMIM:615752	PI4KA	5297	HP:0002463	Language impairment
OMIM:615752	PI4KA	5297	HP:0012650	Perisylvian polymicrogyria
OMIM:615752	PI4KA	5297	HP:0001249	Intellectual disability
OMIM:615752	PI4KA	5297	HP:0000007	Autosomal recessive inheritance
OMIM:615752	PI4KA	5297	HP:0001250	Seizures
OMIM:615752	SRPX2	27286	HP:0002463	Language impairment
OMIM:615752	SRPX2	27286	HP:0012650	Perisylvian polymicrogyria
OMIM:615752	SRPX2	27286	HP:0001249	Intellectual disability
OMIM:615752	SRPX2	27286	HP:0000007	Autosomal recessive inheritance
OMIM:615752	SRPX2	27286	HP:0001250	Seizures
OMIM:615752	ADGRG1	9289	HP:0002463	Language impairment
OMIM:615752	ADGRG1	9289	HP:0012650	Perisylvian polymicrogyria
OMIM:615752	ADGRG1	9289	HP:0001249	Intellectual disability
OMIM:615752	ADGRG1	9289	HP:0000007	Autosomal recessive inheritance
OMIM:615752	ADGRG1	9289	HP:0001250	Seizures
OMIM:135700	TUBB2B	347733	HP:0000565	Esotropia
OMIM:135700	TUBB2B	347733	HP:0000577	Exotropia
OMIM:135700	TUBB2B	347733	HP:0000006	Autosomal dominant inheritance
OMIM:135700	PHOX2A	401	HP:0000565	Esotropia
OMIM:135700	PHOX2A	401	HP:0000577	Exotropia
OMIM:135700	PHOX2A	401	HP:0000006	Autosomal dominant inheritance
OMIM:135700	KIF21A	55605	HP:0000565	Esotropia
OMIM:135700	KIF21A	55605	HP:0000577	Exotropia
OMIM:135700	KIF21A	55605	HP:0000006	Autosomal dominant inheritance
OMIM:135700	COL25A1	84570	HP:0000565	Esotropia
OMIM:135700	COL25A1	84570	HP:0000577	Exotropia
OMIM:135700	COL25A1	84570	HP:0000006	Autosomal dominant inheritance
OMIM:135700	TUBB3	10381	HP:0000565	Esotropia
OMIM:135700	TUBB3	10381	HP:0000577	Exotropia
OMIM:135700	TUBB3	10381	HP:0000006	Autosomal dominant inheritance
OMIM:602483	EDN1	1906	HP:0000402	Stenosis of the external auditory canal
OMIM:602483	EDN1	1906	HP:0000347	Micrognathia
OMIM:602483	EDN1	1906	HP:0000378	Cupped ear
OMIM:602483	EDN1	1906	HP:0000358	Posteriorly rotated ears
OMIM:602483	EDN1	1906	HP:0000256	Macrocephaly
OMIM:602483	EDN1	1906	HP:0000175	Cleft palate
OMIM:602483	EDN1	1906	HP:0000006	Autosomal dominant inheritance
OMIM:602483	EDN1	1906	HP:0000689	Dental malocclusion
OMIM:602483	EDN1	1906	HP:0000162	Glossoptosis
OMIM:602483	EDN1	1906	HP:0000369	Low-set ears
OMIM:602483	EDN1	1906	HP:0000678	Dental crowding
OMIM:602483	EDN1	1906	HP:0002104	Apnea
OMIM:602483	EDN1	1906	HP:0000384	Preauricular skin tag
OMIM:602483	EDN1	1906	HP:0000311	Round face
OMIM:602483	EDN1	1906	HP:0000160	Narrow mouth
OMIM:602483	PLCB4	5332	HP:0000402	Stenosis of the external auditory canal
OMIM:602483	PLCB4	5332	HP:0000347	Micrognathia
OMIM:602483	PLCB4	5332	HP:0000378	Cupped ear
OMIM:602483	PLCB4	5332	HP:0000358	Posteriorly rotated ears
OMIM:602483	PLCB4	5332	HP:0000256	Macrocephaly
OMIM:602483	PLCB4	5332	HP:0000175	Cleft palate
OMIM:602483	PLCB4	5332	HP:0000006	Autosomal dominant inheritance
OMIM:602483	PLCB4	5332	HP:0000689	Dental malocclusion
OMIM:602483	PLCB4	5332	HP:0000162	Glossoptosis
OMIM:602483	PLCB4	5332	HP:0000369	Low-set ears
OMIM:602483	PLCB4	5332	HP:0000678	Dental crowding
OMIM:602483	PLCB4	5332	HP:0002104	Apnea
OMIM:602483	PLCB4	5332	HP:0000384	Preauricular skin tag
OMIM:602483	PLCB4	5332	HP:0000311	Round face
OMIM:602483	PLCB4	5332	HP:0000160	Narrow mouth
OMIM:602483	GNAI3	2773	HP:0000402	Stenosis of the external auditory canal
OMIM:602483	GNAI3	2773	HP:0000347	Micrognathia
OMIM:602483	GNAI3	2773	HP:0000378	Cupped ear
OMIM:602483	GNAI3	2773	HP:0000358	Posteriorly rotated ears
OMIM:602483	GNAI3	2773	HP:0000256	Macrocephaly
OMIM:602483	GNAI3	2773	HP:0000175	Cleft palate
OMIM:602483	GNAI3	2773	HP:0000006	Autosomal dominant inheritance
OMIM:602483	GNAI3	2773	HP:0000689	Dental malocclusion
OMIM:602483	GNAI3	2773	HP:0000162	Glossoptosis
OMIM:602483	GNAI3	2773	HP:0000369	Low-set ears
OMIM:602483	GNAI3	2773	HP:0000678	Dental crowding
OMIM:602483	GNAI3	2773	HP:0002104	Apnea
OMIM:602483	GNAI3	2773	HP:0000384	Preauricular skin tag
OMIM:602483	GNAI3	2773	HP:0000311	Round face
OMIM:602483	GNAI3	2773	HP:0000160	Narrow mouth
OMIM:605013	NDE1	54820	HP:0001263	Global developmental delay
OMIM:605013	NDE1	54820	HP:0000007	Autosomal recessive inheritance
OMIM:605013	NDE1	54820	HP:0002119	Ventriculomegaly
OMIM:605013	NDE1	54820	HP:0002365	Hypoplasia of the brainstem
OMIM:605013	NDE1	54820	HP:0002305	Athetosis
OMIM:605013	NDE1	54820	HP:0000400	Macrotia
OMIM:605013	NDE1	54820	HP:0000742	Self-mutilation
OMIM:605013	NDE1	54820	HP:0001321	Cerebellar hypoplasia
OMIM:605013	NDE1	54820	HP:0001762	Talipes equinovarus
OMIM:605013	NDE1	54820	HP:0003202	Skeletal muscle atrophy
OMIM:605013	NDE1	54820	HP:0001302	Pachygyria
OMIM:605013	NDE1	54820	HP:0000426	Prominent nasal bridge
OMIM:605013	NDE1	54820	HP:0000252	Microcephaly
OMIM:605013	NDE1	54820	HP:0001274	Agenesis of corpus callosum
OMIM:605013	NDE1	54820	HP:0002324	Hydranencephaly
OMIM:605013	NDE1	54820	HP:0010864	Intellectual disability, severe
OMIM:605013	NDE1	54820	HP:0002828	Multiple joint contractures
OMIM:605013	NDE1	54820	HP:0000520	Proptosis
OMIM:605013	NDE1	54820	HP:0002123	Generalized myoclonic seizures
OMIM:605013	NDE1	54820	HP:0000340	Sloping forehead
OMIM:605013	NDE1	54820	HP:0002510	Spastic tetraplegia
OMIM:605013	NDE1	54820	HP:0006887	Intellectual disability, progressive
OMIM:605013	NDE1	54820	HP:0004322	Short stature
OMIM:605013	NDE1	54820	HP:0001347	Hyperreflexia
ORPHANET:3416	SOST	50964	HP:0000303	Mandibular prognathia
ORPHANET:3416	SOST	50964	HP:0010628	Facial palsy
ORPHANET:3416	SOST	50964	HP:0000407	Sensorineural hearing impairment
ORPHANET:3416	SOST	50964	HP:0004493	Craniofacial hyperostosis
ORPHANET:3416	SOST	50964	HP:0011001	Increased bone mineral density
ORPHANET:3416	SOST	50964	HP:0000889	Abnormality of the clavicle
ORPHANET:3416	SOST	50964	HP:0003103	Abnormal cortical bone morphology
ORPHANET:3416	LRP5	4041	HP:0000303	Mandibular prognathia
ORPHANET:3416	LRP5	4041	HP:0010628	Facial palsy
ORPHANET:3416	LRP5	4041	HP:0000407	Sensorineural hearing impairment
ORPHANET:3416	LRP5	4041	HP:0004493	Craniofacial hyperostosis
ORPHANET:3416	LRP5	4041	HP:0011001	Increased bone mineral density
ORPHANET:3416	LRP5	4041	HP:0000889	Abnormality of the clavicle
ORPHANET:3416	LRP5	4041	HP:0003103	Abnormal cortical bone morphology
OMIM:248500	MAN2B1	4125	HP:0001272	Cerebellar atrophy
OMIM:248500	MAN2B1	4125	HP:0001744	Splenomegaly
OMIM:248500	MAN2B1	4125	HP:0003272	Abnormality of the hip bone
OMIM:248500	MAN2B1	4125	HP:0001252	Muscular hypotonia
OMIM:248500	MAN2B1	4125	HP:0000689	Dental malocclusion
OMIM:248500	MAN2B1	4125	HP:0002980	Femoral bowing
OMIM:248500	MAN2B1	4125	HP:0001249	Intellectual disability
OMIM:248500	MAN2B1	4125	HP:0000023	Inguinal hernia
OMIM:248500	MAN2B1	4125	HP:0002718	Recurrent bacterial infections
OMIM:248500	MAN2B1	4125	HP:0002684	Thickened calvaria
OMIM:248500	MAN2B1	4125	HP:0000212	Gingival overgrowth
OMIM:248500	MAN2B1	4125	HP:0000280	Coarse facial features
OMIM:248500	MAN2B1	4125	HP:0000286	Epicanthus
OMIM:248500	MAN2B1	4125	HP:0000337	Broad forehead
OMIM:248500	MAN2B1	4125	HP:0000294	Low anterior hairline
OMIM:248500	MAN2B1	4125	HP:0000470	Short neck
OMIM:248500	MAN2B1	4125	HP:0000400	Macrotia
OMIM:248500	MAN2B1	4125	HP:0000407	Sensorineural hearing impairment
OMIM:248500	MAN2B1	4125	HP:0001547	Abnormality of the rib cage
OMIM:248500	MAN2B1	4125	HP:0000388	Otitis media
OMIM:248500	MAN2B1	4125	HP:0002066	Gait ataxia
OMIM:248500	MAN2B1	4125	HP:0006487	Bowing of the long bones
OMIM:248500	MAN2B1	4125	HP:0002240	Hepatomegaly
OMIM:248500	MAN2B1	4125	HP:0100543	Cognitive impairment
OMIM:248500	MAN2B1	4125	HP:0000574	Thick eyebrow
OMIM:248500	MAN2B1	4125	HP:0002750	Delayed skeletal maturation
OMIM:248500	MAN2B1	4125	HP:0002808	Kyphosis
OMIM:248500	MAN2B1	4125	HP:0000365	Hearing impairment
OMIM:248500	MAN2B1	4125	HP:0000943	Dysostosis multiplex
OMIM:248500	MAN2B1	4125	HP:0004313	Decreased antibody level in blood
OMIM:248500	MAN2B1	4125	HP:0000272	Malar flattening
OMIM:248500	MAN2B1	4125	HP:0000256	Macrocephaly
OMIM:248500	MAN2B1	4125	HP:0004493	Craniofacial hyperostosis
OMIM:248500	MAN2B1	4125	HP:0000174	Abnormality of the palate
OMIM:248500	MAN2B1	4125	HP:0001257	Spasticity
OMIM:248500	MAN2B1	4125	HP:0000157	Abnormality of the tongue
OMIM:248500	MAN2B1	4125	HP:0001263	Global developmental delay
OMIM:248500	MAN2B1	4125	HP:0000687	Widely spaced teeth
OMIM:248500	MAN2B1	4125	HP:0000007	Autosomal recessive inheritance
OMIM:248500	MAN2B1	4125	HP:0000738	Hallucinations
OMIM:248500	MAN2B1	4125	HP:0000518	Cataract
OMIM:248500	MAN2B1	4125	HP:0000316	Hypertelorism
OMIM:248500	MAN2B1	4125	HP:0000457	Depressed nasal ridge
OMIM:248500	MAN2B1	4125	HP:0000998	Hypertrichosis
OMIM:248500	MAN2B1	4125	HP:0011039	Abnormality of the helix
OMIM:248500	MAN2B1	4125	HP:0005978	Type II diabetes mellitus
OMIM:248500	MAN2B1	4125	HP:0011800	Hypoplasia of midface
OMIM:248500	MAN2B1	4125	HP:0000158	Macroglossia
OMIM:248500	MAN2B1	4125	HP:0001369	Arthritis
OMIM:248500	MAN2B1	4125	HP:0000639	Nystagmus
OMIM:248500	MAN2B1	4125	HP:0004299	Hernia of the abdominal wall
OMIM:248500	MAN2B1	4125	HP:0007772	Impaired smooth pursuit
OMIM:248500	MAN2B1	4125	HP:0000303	Mandibular prognathia
OMIM:248500	MAN2B1	4125	HP:0002070	Limb ataxia
OMIM:248500	MAN2B1	4125	HP:0007759	Opacification of the corneal stroma
OMIM:248500	MAN2B1	4125	HP:0005280	Depressed nasal bridge
OMIM:248500	MAN2B1	4125	HP:0100240	Synostosis of joints
OMIM:248500	MAN2B1	4125	HP:0000768	Pectus carinatum
OMIM:248500	MAN2B1	4125	HP:0001510	Growth delay
OMIM:248500	MAN2B1	4125	HP:0002652	Skeletal dysplasia
OMIM:248500	MAN2B1	4125	HP:0003487	Babinski sign
OMIM:248500	MAN2B1	4125	HP:0002205	Recurrent respiratory infections
OMIM:248500	MAN2B1	4125	HP:0002007	Frontal bossing
OMIM:248500	MAN2B1	4125	HP:0000336	Prominent supraorbital ridges
OMIM:248500	MAN2B1	4125	HP:0001260	Dysarthria
OMIM:248500	MAN2B1	4125	HP:0001347	Hyperreflexia
OMIM:248500	MAN2B1	4125	HP:0005469	Flat occiput
OMIM:248500	MAN2B1	4125	HP:0002650	Scoliosis
OMIM:609040	PKP2	5318	HP:0000006	Autosomal dominant inheritance
OMIM:609040	PKP2	5318	HP:0001962	Palpitations
OMIM:609040	PKP2	5318	HP:0004308	Ventricular arrhythmia
OMIM:609040	PKP2	5318	HP:0001279	Syncope
OMIM:609040	PKP2	5318	HP:0011663	Right ventricular cardiomyopathy
OMIM:609040	PKP2	5318	HP:0001645	Sudden cardiac death
OMIM:609040	PKP2	5318	HP:0002617	Aneurysm
OMIM:607598	ERBB3	2065	HP:0001561	Polyhydramnios
OMIM:607598	ERBB3	2065	HP:0002878	Respiratory failure
OMIM:607598	ERBB3	2065	HP:0000007	Autosomal recessive inheritance
OMIM:607598	ERBB3	2065	HP:0003202	Skeletal muscle atrophy
OMIM:607598	ERBB3	2065	HP:0001558	Decreased fetal movement
OMIM:607598	ERBB3	2065	HP:0001644	Dilated cardiomyopathy
OMIM:607598	ERBB3	2065	HP:0000126	Hydronephrosis
OMIM:607598	ERBB3	2065	HP:0000969	Edema
OMIM:607598	ERBB3	2065	HP:0002804	Arthrogryposis multiplex congenita
OMIM:607598	ERBB3	2065	HP:0011003	Severe Myopia
OMIM:607598	ERBB3	2065	HP:0000347	Micrognathia
OMIM:607598	ERBB3	2065	HP:0001629	Ventricular septal defect
OMIM:600081	CYP2R1	120227	HP:0001510	Growth delay
OMIM:600081	CYP2R1	120227	HP:0001252	Muscular hypotonia
OMIM:600081	CYP2R1	120227	HP:0002355	Difficulty walking
OMIM:600081	CYP2R1	120227	HP:0002979	Bowing of the legs
OMIM:600081	CYP2R1	120227	HP:0001324	Muscle weakness
OMIM:600081	CYP2R1	120227	HP:0002148	Hypophosphatemia
OMIM:600081	CYP2R1	120227	HP:0002663	Delayed epiphyseal ossification
OMIM:600081	CYP2R1	120227	HP:0002980	Femoral bowing
OMIM:600081	CYP2R1	120227	HP:0002007	Frontal bossing
OMIM:600081	CYP2R1	120227	HP:0003593	Infantile onset
OMIM:600081	CYP2R1	120227	HP:0000007	Autosomal recessive inheritance
OMIM:600081	CYP2R1	120227	HP:0001508	Failure to thrive
OMIM:600081	CYP2R1	120227	HP:0002653	Bone pain
OMIM:600081	CYP2R1	120227	HP:0004492	Widely patent fontanelles and sutures
OMIM:600081	CYP2R1	120227	HP:0002982	Tibial bowing
OMIM:600081	CYP2R1	120227	HP:0002757	Recurrent fractures
OMIM:600081	CYP2R1	120227	HP:0005469	Flat occiput
OMIM:600081	CYP2R1	120227	HP:0003025	Metaphyseal irregularity
OMIM:600081	CYP2R1	120227	HP:0000920	Enlargement of the costochondral junction
OMIM:600081	CYP27B1	1594	HP:0001510	Growth delay
OMIM:600081	CYP27B1	1594	HP:0001252	Muscular hypotonia
OMIM:600081	CYP27B1	1594	HP:0002355	Difficulty walking
OMIM:600081	CYP27B1	1594	HP:0002979	Bowing of the legs
OMIM:600081	CYP27B1	1594	HP:0001324	Muscle weakness
OMIM:600081	CYP27B1	1594	HP:0002148	Hypophosphatemia
OMIM:600081	CYP27B1	1594	HP:0002663	Delayed epiphyseal ossification
OMIM:600081	CYP27B1	1594	HP:0002980	Femoral bowing
OMIM:600081	CYP27B1	1594	HP:0002007	Frontal bossing
OMIM:600081	CYP27B1	1594	HP:0003593	Infantile onset
OMIM:600081	CYP27B1	1594	HP:0000007	Autosomal recessive inheritance
OMIM:600081	CYP27B1	1594	HP:0001508	Failure to thrive
OMIM:600081	CYP27B1	1594	HP:0002653	Bone pain
OMIM:600081	CYP27B1	1594	HP:0004492	Widely patent fontanelles and sutures
OMIM:600081	CYP27B1	1594	HP:0002982	Tibial bowing
OMIM:600081	CYP27B1	1594	HP:0002757	Recurrent fractures
OMIM:600081	CYP27B1	1594	HP:0005469	Flat occiput
OMIM:600081	CYP27B1	1594	HP:0003025	Metaphyseal irregularity
OMIM:600081	CYP27B1	1594	HP:0000920	Enlargement of the costochondral junction
ORPHANET:93388	GDF5	8200	HP:0004322	Short stature
ORPHANET:93388	GDF5	8200	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:93388	GDF5	8200	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHANET:93388	GDF5	8200	HP:0002997	Abnormality of the ulna
ORPHANET:93388	GDF5	8200	HP:0001883	Talipes
ORPHANET:93388	GDF5	8200	HP:0002650	Scoliosis
ORPHANET:93388	GDF5	8200	HP:0010109	Short hallux
ORPHANET:93388	GDF5	8200	HP:0010579	Cone-shaped epiphysis
ORPHANET:93388	GDF5	8200	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:93388	GDF5	8200	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHANET:93388	GDF5	8200	HP:0001156	Brachydactyly syndrome
ORPHANET:93388	IHH	3549	HP:0004322	Short stature
ORPHANET:93388	IHH	3549	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:93388	IHH	3549	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHANET:93388	IHH	3549	HP:0002997	Abnormality of the ulna
ORPHANET:93388	IHH	3549	HP:0001883	Talipes
ORPHANET:93388	IHH	3549	HP:0002650	Scoliosis
ORPHANET:93388	IHH	3549	HP:0010109	Short hallux
ORPHANET:93388	IHH	3549	HP:0010579	Cone-shaped epiphysis
ORPHANET:93388	IHH	3549	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:93388	IHH	3549	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHANET:93388	IHH	3549	HP:0001156	Brachydactyly syndrome
OMIM:615686	AMPD2	271	HP:0002518	Abnormality of the periventricular white matter
OMIM:615686	AMPD2	271	HP:0000007	Autosomal recessive inheritance
OMIM:615686	AMPD2	271	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615686	AMPD2	271	HP:0001258	Spastic paraplegia
OMIM:615686	AMPD2	271	HP:0003202	Skeletal muscle atrophy
OMIM:615686	AMPD2	271	HP:0001347	Hyperreflexia
OMIM:615686	AMPD2	271	HP:0004322	Short stature
OMIM:610245	PDYN	5173	HP:0002070	Limb ataxia
OMIM:610245	PDYN	5173	HP:0001272	Cerebellar atrophy
OMIM:610245	PDYN	5173	HP:0002066	Gait ataxia
OMIM:610245	PDYN	5173	HP:0001347	Hyperreflexia
OMIM:610245	PDYN	5173	HP:0007141	Sensorimotor neuropathy
OMIM:610245	PDYN	5173	HP:0001337	Tremor
OMIM:610245	PDYN	5173	HP:0003487	Babinski sign
OMIM:610245	PDYN	5173	HP:0001260	Dysarthria
OMIM:610245	PDYN	5173	HP:0002529	Neuronal loss in central nervous system
OMIM:610245	PDYN	5173	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:610245	PDYN	5173	HP:0001310	Dysmetria
OMIM:610245	PDYN	5173	HP:0007305	CNS demyelination
OMIM:610245	PDYN	5173	HP:0000006	Autosomal dominant inheritance
OMIM:610245	PDYN	5173	HP:0001274	Agenesis of corpus callosum
OMIM:610245	PDYN	5173	HP:0003677	Slow progression
OMIM:611788	TGFB2	7042	HP:0000006	Autosomal dominant inheritance
OMIM:611788	TGFB2	7042	HP:0004942	Aortic aneurysm
OMIM:611788	MYH11	4629	HP:0000006	Autosomal dominant inheritance
OMIM:611788	MYH11	4629	HP:0004942	Aortic aneurysm
OMIM:611788	TGFBR1	7046	HP:0000006	Autosomal dominant inheritance
OMIM:611788	TGFBR1	7046	HP:0004942	Aortic aneurysm
OMIM:611788	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:611788	TGFBR2	7048	HP:0004942	Aortic aneurysm
OMIM:611788	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:611788	FBN1	2200	HP:0004942	Aortic aneurysm
OMIM:611788	SMAD3	4088	HP:0000006	Autosomal dominant inheritance
OMIM:611788	SMAD3	4088	HP:0004942	Aortic aneurysm
OMIM:611788	PRKG1	5592	HP:0000006	Autosomal dominant inheritance
OMIM:611788	PRKG1	5592	HP:0004942	Aortic aneurysm
OMIM:611788	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:611788	ACTA2	59	HP:0004942	Aortic aneurysm
OMIM:611788	MFAP5	8076	HP:0000006	Autosomal dominant inheritance
OMIM:611788	MFAP5	8076	HP:0004942	Aortic aneurysm
OMIM:611788	MYLK	4638	HP:0000006	Autosomal dominant inheritance
OMIM:611788	MYLK	4638	HP:0004942	Aortic aneurysm
OMIM:600795	GRN	2896	HP:0000711	Restlessness
OMIM:600795	GRN	2896	HP:0000733	Stereotypic behavior
OMIM:600795	GRN	2896	HP:0002063	Rigidity
OMIM:600795	GRN	2896	HP:0000718	Aggressive behavior
OMIM:600795	GRN	2896	HP:0002371	Loss of speech
OMIM:600795	GRN	2896	HP:0000741	Apathy
OMIM:600795	GRN	2896	HP:0002529	Neuronal loss in central nervous system
OMIM:600795	GRN	2896	HP:0000006	Autosomal dominant inheritance
OMIM:600795	GRN	2896	HP:0002120	Cerebral cortical atrophy
OMIM:600795	GRN	2896	HP:0001336	Myoclonus
OMIM:600795	GRN	2896	HP:0001347	Hyperreflexia
OMIM:600795	GRN	2896	HP:0001332	Dystonia
OMIM:600795	GRN	2896	HP:0002354	Memory impairment
OMIM:600795	GRN	2896	HP:0001288	Gait disturbance
OMIM:600795	GRN	2896	HP:0003487	Babinski sign
OMIM:600795	GRN	2896	HP:0000020	Urinary incontinence
OMIM:600795	TREM2	54209	HP:0000711	Restlessness
OMIM:600795	TREM2	54209	HP:0000733	Stereotypic behavior
OMIM:600795	TREM2	54209	HP:0002063	Rigidity
OMIM:600795	TREM2	54209	HP:0000718	Aggressive behavior
OMIM:600795	TREM2	54209	HP:0002371	Loss of speech
OMIM:600795	TREM2	54209	HP:0000741	Apathy
OMIM:600795	TREM2	54209	HP:0002529	Neuronal loss in central nervous system
OMIM:600795	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:600795	TREM2	54209	HP:0002120	Cerebral cortical atrophy
OMIM:600795	TREM2	54209	HP:0001336	Myoclonus
OMIM:600795	TREM2	54209	HP:0001347	Hyperreflexia
OMIM:600795	TREM2	54209	HP:0001332	Dystonia
OMIM:600795	TREM2	54209	HP:0002354	Memory impairment
OMIM:600795	TREM2	54209	HP:0001288	Gait disturbance
OMIM:600795	TREM2	54209	HP:0003487	Babinski sign
OMIM:600795	TREM2	54209	HP:0000020	Urinary incontinence
OMIM:600795	VCP	7415	HP:0000711	Restlessness
OMIM:600795	VCP	7415	HP:0000733	Stereotypic behavior
OMIM:600795	VCP	7415	HP:0002063	Rigidity
OMIM:600795	VCP	7415	HP:0000718	Aggressive behavior
OMIM:600795	VCP	7415	HP:0002371	Loss of speech
OMIM:600795	VCP	7415	HP:0000741	Apathy
OMIM:600795	VCP	7415	HP:0002529	Neuronal loss in central nervous system
OMIM:600795	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:600795	VCP	7415	HP:0002120	Cerebral cortical atrophy
OMIM:600795	VCP	7415	HP:0001336	Myoclonus
OMIM:600795	VCP	7415	HP:0001347	Hyperreflexia
OMIM:600795	VCP	7415	HP:0001332	Dystonia
OMIM:600795	VCP	7415	HP:0002354	Memory impairment
OMIM:600795	VCP	7415	HP:0001288	Gait disturbance
OMIM:600795	VCP	7415	HP:0003487	Babinski sign
OMIM:600795	VCP	7415	HP:0000020	Urinary incontinence
OMIM:600795	MAPT	4137	HP:0000711	Restlessness
OMIM:600795	MAPT	4137	HP:0000733	Stereotypic behavior
OMIM:600795	MAPT	4137	HP:0002063	Rigidity
OMIM:600795	MAPT	4137	HP:0000718	Aggressive behavior
OMIM:600795	MAPT	4137	HP:0002371	Loss of speech
OMIM:600795	MAPT	4137	HP:0000741	Apathy
OMIM:600795	MAPT	4137	HP:0002529	Neuronal loss in central nervous system
OMIM:600795	MAPT	4137	HP:0000006	Autosomal dominant inheritance
OMIM:600795	MAPT	4137	HP:0002120	Cerebral cortical atrophy
OMIM:600795	MAPT	4137	HP:0001336	Myoclonus
OMIM:600795	MAPT	4137	HP:0001347	Hyperreflexia
OMIM:600795	MAPT	4137	HP:0001332	Dystonia
OMIM:600795	MAPT	4137	HP:0002354	Memory impairment
OMIM:600795	MAPT	4137	HP:0001288	Gait disturbance
OMIM:600795	MAPT	4137	HP:0003487	Babinski sign
OMIM:600795	MAPT	4137	HP:0000020	Urinary incontinence
OMIM:600795	CHMP2B	25978	HP:0000711	Restlessness
OMIM:600795	CHMP2B	25978	HP:0000733	Stereotypic behavior
OMIM:600795	CHMP2B	25978	HP:0002063	Rigidity
OMIM:600795	CHMP2B	25978	HP:0000718	Aggressive behavior
OMIM:600795	CHMP2B	25978	HP:0002371	Loss of speech
OMIM:600795	CHMP2B	25978	HP:0000741	Apathy
OMIM:600795	CHMP2B	25978	HP:0002529	Neuronal loss in central nervous system
OMIM:600795	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:600795	CHMP2B	25978	HP:0002120	Cerebral cortical atrophy
OMIM:600795	CHMP2B	25978	HP:0001336	Myoclonus
OMIM:600795	CHMP2B	25978	HP:0001347	Hyperreflexia
OMIM:600795	CHMP2B	25978	HP:0001332	Dystonia
OMIM:600795	CHMP2B	25978	HP:0002354	Memory impairment
OMIM:600795	CHMP2B	25978	HP:0001288	Gait disturbance
OMIM:600795	CHMP2B	25978	HP:0003487	Babinski sign
OMIM:600795	CHMP2B	25978	HP:0000020	Urinary incontinence
OMIM:600795	SQSTM1	8878	HP:0000711	Restlessness
OMIM:600795	SQSTM1	8878	HP:0000733	Stereotypic behavior
OMIM:600795	SQSTM1	8878	HP:0002063	Rigidity
OMIM:600795	SQSTM1	8878	HP:0000718	Aggressive behavior
OMIM:600795	SQSTM1	8878	HP:0002371	Loss of speech
OMIM:600795	SQSTM1	8878	HP:0000741	Apathy
OMIM:600795	SQSTM1	8878	HP:0002529	Neuronal loss in central nervous system
OMIM:600795	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:600795	SQSTM1	8878	HP:0002120	Cerebral cortical atrophy
OMIM:600795	SQSTM1	8878	HP:0001336	Myoclonus
OMIM:600795	SQSTM1	8878	HP:0001347	Hyperreflexia
OMIM:600795	SQSTM1	8878	HP:0001332	Dystonia
OMIM:600795	SQSTM1	8878	HP:0002354	Memory impairment
OMIM:600795	SQSTM1	8878	HP:0001288	Gait disturbance
OMIM:600795	SQSTM1	8878	HP:0003487	Babinski sign
OMIM:600795	SQSTM1	8878	HP:0000020	Urinary incontinence
OMIM:600795	PSEN1	5663	HP:0000711	Restlessness
OMIM:600795	PSEN1	5663	HP:0000733	Stereotypic behavior
OMIM:600795	PSEN1	5663	HP:0002063	Rigidity
OMIM:600795	PSEN1	5663	HP:0000718	Aggressive behavior
OMIM:600795	PSEN1	5663	HP:0002371	Loss of speech
OMIM:600795	PSEN1	5663	HP:0000741	Apathy
OMIM:600795	PSEN1	5663	HP:0002529	Neuronal loss in central nervous system
OMIM:600795	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:600795	PSEN1	5663	HP:0002120	Cerebral cortical atrophy
OMIM:600795	PSEN1	5663	HP:0001336	Myoclonus
OMIM:600795	PSEN1	5663	HP:0001347	Hyperreflexia
OMIM:600795	PSEN1	5663	HP:0001332	Dystonia
OMIM:600795	PSEN1	5663	HP:0002354	Memory impairment
OMIM:600795	PSEN1	5663	HP:0001288	Gait disturbance
OMIM:600795	PSEN1	5663	HP:0003487	Babinski sign
OMIM:600795	PSEN1	5663	HP:0000020	Urinary incontinence
OMIM:600795	C9ORF72	203228	HP:0000711	Restlessness
OMIM:600795	C9ORF72	203228	HP:0000733	Stereotypic behavior
OMIM:600795	C9ORF72	203228	HP:0002063	Rigidity
OMIM:600795	C9ORF72	203228	HP:0000718	Aggressive behavior
OMIM:600795	C9ORF72	203228	HP:0002371	Loss of speech
OMIM:600795	C9ORF72	203228	HP:0000741	Apathy
OMIM:600795	C9ORF72	203228	HP:0002529	Neuronal loss in central nervous system
OMIM:600795	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:600795	C9ORF72	203228	HP:0002120	Cerebral cortical atrophy
OMIM:600795	C9ORF72	203228	HP:0001336	Myoclonus
OMIM:600795	C9ORF72	203228	HP:0001347	Hyperreflexia
OMIM:600795	C9ORF72	203228	HP:0001332	Dystonia
OMIM:600795	C9ORF72	203228	HP:0002354	Memory impairment
OMIM:600795	C9ORF72	203228	HP:0001288	Gait disturbance
OMIM:600795	C9ORF72	203228	HP:0003487	Babinski sign
OMIM:600795	C9ORF72	203228	HP:0000020	Urinary incontinence
OMIM:610283	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	AIPL1	23746	HP:0000529	Progressive visual loss
OMIM:610283	AIPL1	23746	HP:0000608	Macular degeneration
OMIM:610283	AIPL1	23746	HP:0000613	Photophobia
OMIM:610283	AIPL1	23746	HP:0000510	Rod-cone dystrophy
OMIM:610283	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:610283	AIPL1	23746	HP:0009926	Increased lacrimation
OMIM:610283	AIPL1	23746	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:610283	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	PITPNM3	83394	HP:0000529	Progressive visual loss
OMIM:610283	PITPNM3	83394	HP:0000608	Macular degeneration
OMIM:610283	PITPNM3	83394	HP:0000613	Photophobia
OMIM:610283	PITPNM3	83394	HP:0000510	Rod-cone dystrophy
OMIM:610283	PITPNM3	83394	HP:0000662	Nyctalopia
OMIM:610283	PITPNM3	83394	HP:0009926	Increased lacrimation
OMIM:610283	PITPNM3	83394	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	PITPNM3	83394	HP:0000007	Autosomal recessive inheritance
OMIM:610283	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	OPN1LW	5956	HP:0000529	Progressive visual loss
OMIM:610283	OPN1LW	5956	HP:0000608	Macular degeneration
OMIM:610283	OPN1LW	5956	HP:0000613	Photophobia
OMIM:610283	OPN1LW	5956	HP:0000510	Rod-cone dystrophy
OMIM:610283	OPN1LW	5956	HP:0000662	Nyctalopia
OMIM:610283	OPN1LW	5956	HP:0009926	Increased lacrimation
OMIM:610283	OPN1LW	5956	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	OPN1LW	5956	HP:0000007	Autosomal recessive inheritance
OMIM:610283	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	UNC119	9094	HP:0000529	Progressive visual loss
OMIM:610283	UNC119	9094	HP:0000608	Macular degeneration
OMIM:610283	UNC119	9094	HP:0000613	Photophobia
OMIM:610283	UNC119	9094	HP:0000510	Rod-cone dystrophy
OMIM:610283	UNC119	9094	HP:0000662	Nyctalopia
OMIM:610283	UNC119	9094	HP:0009926	Increased lacrimation
OMIM:610283	UNC119	9094	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	UNC119	9094	HP:0000007	Autosomal recessive inheritance
OMIM:610283	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	RPGRIP1	57096	HP:0000529	Progressive visual loss
OMIM:610283	RPGRIP1	57096	HP:0000608	Macular degeneration
OMIM:610283	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:610283	RPGRIP1	57096	HP:0000510	Rod-cone dystrophy
OMIM:610283	RPGRIP1	57096	HP:0000662	Nyctalopia
OMIM:610283	RPGRIP1	57096	HP:0009926	Increased lacrimation
OMIM:610283	RPGRIP1	57096	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:610283	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	PRPH2	5961	HP:0000529	Progressive visual loss
OMIM:610283	PRPH2	5961	HP:0000608	Macular degeneration
OMIM:610283	PRPH2	5961	HP:0000613	Photophobia
OMIM:610283	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:610283	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:610283	PRPH2	5961	HP:0009926	Increased lacrimation
OMIM:610283	PRPH2	5961	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:610283	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	CACNA1F	778	HP:0000529	Progressive visual loss
OMIM:610283	CACNA1F	778	HP:0000608	Macular degeneration
OMIM:610283	CACNA1F	778	HP:0000613	Photophobia
OMIM:610283	CACNA1F	778	HP:0000510	Rod-cone dystrophy
OMIM:610283	CACNA1F	778	HP:0000662	Nyctalopia
OMIM:610283	CACNA1F	778	HP:0009926	Increased lacrimation
OMIM:610283	CACNA1F	778	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:610283	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	PROM1	8842	HP:0000529	Progressive visual loss
OMIM:610283	PROM1	8842	HP:0000608	Macular degeneration
OMIM:610283	PROM1	8842	HP:0000613	Photophobia
OMIM:610283	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:610283	PROM1	8842	HP:0000662	Nyctalopia
OMIM:610283	PROM1	8842	HP:0009926	Increased lacrimation
OMIM:610283	PROM1	8842	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:610283	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	DRAM2	128338	HP:0000529	Progressive visual loss
OMIM:610283	DRAM2	128338	HP:0000608	Macular degeneration
OMIM:610283	DRAM2	128338	HP:0000613	Photophobia
OMIM:610283	DRAM2	128338	HP:0000510	Rod-cone dystrophy
OMIM:610283	DRAM2	128338	HP:0000662	Nyctalopia
OMIM:610283	DRAM2	128338	HP:0009926	Increased lacrimation
OMIM:610283	DRAM2	128338	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	DRAM2	128338	HP:0000007	Autosomal recessive inheritance
OMIM:610283	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	CACNA2D4	93589	HP:0000529	Progressive visual loss
OMIM:610283	CACNA2D4	93589	HP:0000608	Macular degeneration
OMIM:610283	CACNA2D4	93589	HP:0000613	Photophobia
OMIM:610283	CACNA2D4	93589	HP:0000510	Rod-cone dystrophy
OMIM:610283	CACNA2D4	93589	HP:0000662	Nyctalopia
OMIM:610283	CACNA2D4	93589	HP:0009926	Increased lacrimation
OMIM:610283	CACNA2D4	93589	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:610283	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	RAB28	9364	HP:0000529	Progressive visual loss
OMIM:610283	RAB28	9364	HP:0000608	Macular degeneration
OMIM:610283	RAB28	9364	HP:0000613	Photophobia
OMIM:610283	RAB28	9364	HP:0000510	Rod-cone dystrophy
OMIM:610283	RAB28	9364	HP:0000662	Nyctalopia
OMIM:610283	RAB28	9364	HP:0009926	Increased lacrimation
OMIM:610283	RAB28	9364	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	RAB28	9364	HP:0000007	Autosomal recessive inheritance
OMIM:610283	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	RIMS1	22999	HP:0000529	Progressive visual loss
OMIM:610283	RIMS1	22999	HP:0000608	Macular degeneration
OMIM:610283	RIMS1	22999	HP:0000613	Photophobia
OMIM:610283	RIMS1	22999	HP:0000510	Rod-cone dystrophy
OMIM:610283	RIMS1	22999	HP:0000662	Nyctalopia
OMIM:610283	RIMS1	22999	HP:0009926	Increased lacrimation
OMIM:610283	RIMS1	22999	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	RIMS1	22999	HP:0000007	Autosomal recessive inheritance
OMIM:610283	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	RPGR	6103	HP:0000529	Progressive visual loss
OMIM:610283	RPGR	6103	HP:0000608	Macular degeneration
OMIM:610283	RPGR	6103	HP:0000613	Photophobia
OMIM:610283	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:610283	RPGR	6103	HP:0000662	Nyctalopia
OMIM:610283	RPGR	6103	HP:0009926	Increased lacrimation
OMIM:610283	RPGR	6103	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:610283	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	ABCA4	24	HP:0000529	Progressive visual loss
OMIM:610283	ABCA4	24	HP:0000608	Macular degeneration
OMIM:610283	ABCA4	24	HP:0000613	Photophobia
OMIM:610283	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:610283	ABCA4	24	HP:0000662	Nyctalopia
OMIM:610283	ABCA4	24	HP:0009926	Increased lacrimation
OMIM:610283	ABCA4	24	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:610283	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	SEMA4A	64218	HP:0000529	Progressive visual loss
OMIM:610283	SEMA4A	64218	HP:0000608	Macular degeneration
OMIM:610283	SEMA4A	64218	HP:0000613	Photophobia
OMIM:610283	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:610283	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:610283	SEMA4A	64218	HP:0009926	Increased lacrimation
OMIM:610283	SEMA4A	64218	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:610283	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	C8ORF37	157657	HP:0000529	Progressive visual loss
OMIM:610283	C8ORF37	157657	HP:0000608	Macular degeneration
OMIM:610283	C8ORF37	157657	HP:0000613	Photophobia
OMIM:610283	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:610283	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:610283	C8ORF37	157657	HP:0009926	Increased lacrimation
OMIM:610283	C8ORF37	157657	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:610283	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	OPN1MW	2652	HP:0000529	Progressive visual loss
OMIM:610283	OPN1MW	2652	HP:0000608	Macular degeneration
OMIM:610283	OPN1MW	2652	HP:0000613	Photophobia
OMIM:610283	OPN1MW	2652	HP:0000510	Rod-cone dystrophy
OMIM:610283	OPN1MW	2652	HP:0000662	Nyctalopia
OMIM:610283	OPN1MW	2652	HP:0009926	Increased lacrimation
OMIM:610283	OPN1MW	2652	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	OPN1MW	2652	HP:0000007	Autosomal recessive inheritance
OMIM:610283	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	GUCA1A	2978	HP:0000529	Progressive visual loss
OMIM:610283	GUCA1A	2978	HP:0000608	Macular degeneration
OMIM:610283	GUCA1A	2978	HP:0000613	Photophobia
OMIM:610283	GUCA1A	2978	HP:0000510	Rod-cone dystrophy
OMIM:610283	GUCA1A	2978	HP:0000662	Nyctalopia
OMIM:610283	GUCA1A	2978	HP:0009926	Increased lacrimation
OMIM:610283	GUCA1A	2978	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	GUCA1A	2978	HP:0000007	Autosomal recessive inheritance
OMIM:610283	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	RAX2	84839	HP:0000529	Progressive visual loss
OMIM:610283	RAX2	84839	HP:0000608	Macular degeneration
OMIM:610283	RAX2	84839	HP:0000613	Photophobia
OMIM:610283	RAX2	84839	HP:0000510	Rod-cone dystrophy
OMIM:610283	RAX2	84839	HP:0000662	Nyctalopia
OMIM:610283	RAX2	84839	HP:0009926	Increased lacrimation
OMIM:610283	RAX2	84839	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	RAX2	84839	HP:0000007	Autosomal recessive inheritance
OMIM:610283	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	CNGA3	1261	HP:0000529	Progressive visual loss
OMIM:610283	CNGA3	1261	HP:0000608	Macular degeneration
OMIM:610283	CNGA3	1261	HP:0000613	Photophobia
OMIM:610283	CNGA3	1261	HP:0000510	Rod-cone dystrophy
OMIM:610283	CNGA3	1261	HP:0000662	Nyctalopia
OMIM:610283	CNGA3	1261	HP:0009926	Increased lacrimation
OMIM:610283	CNGA3	1261	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:610283	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	ADAM9	8754	HP:0000529	Progressive visual loss
OMIM:610283	ADAM9	8754	HP:0000608	Macular degeneration
OMIM:610283	ADAM9	8754	HP:0000613	Photophobia
OMIM:610283	ADAM9	8754	HP:0000510	Rod-cone dystrophy
OMIM:610283	ADAM9	8754	HP:0000662	Nyctalopia
OMIM:610283	ADAM9	8754	HP:0009926	Increased lacrimation
OMIM:610283	ADAM9	8754	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	ADAM9	8754	HP:0000007	Autosomal recessive inheritance
OMIM:610283	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	CDHR1	92211	HP:0000529	Progressive visual loss
OMIM:610283	CDHR1	92211	HP:0000608	Macular degeneration
OMIM:610283	CDHR1	92211	HP:0000613	Photophobia
OMIM:610283	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:610283	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:610283	CDHR1	92211	HP:0009926	Increased lacrimation
OMIM:610283	CDHR1	92211	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:610283	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	TTLL5	23093	HP:0000529	Progressive visual loss
OMIM:610283	TTLL5	23093	HP:0000608	Macular degeneration
OMIM:610283	TTLL5	23093	HP:0000613	Photophobia
OMIM:610283	TTLL5	23093	HP:0000510	Rod-cone dystrophy
OMIM:610283	TTLL5	23093	HP:0000662	Nyctalopia
OMIM:610283	TTLL5	23093	HP:0009926	Increased lacrimation
OMIM:610283	TTLL5	23093	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	TTLL5	23093	HP:0000007	Autosomal recessive inheritance
OMIM:610283	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	GUCY2D	3000	HP:0000529	Progressive visual loss
OMIM:610283	GUCY2D	3000	HP:0000608	Macular degeneration
OMIM:610283	GUCY2D	3000	HP:0000613	Photophobia
OMIM:610283	GUCY2D	3000	HP:0000510	Rod-cone dystrophy
OMIM:610283	GUCY2D	3000	HP:0000662	Nyctalopia
OMIM:610283	GUCY2D	3000	HP:0009926	Increased lacrimation
OMIM:610283	GUCY2D	3000	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:610283	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	POC1B	282809	HP:0000529	Progressive visual loss
OMIM:610283	POC1B	282809	HP:0000608	Macular degeneration
OMIM:610283	POC1B	282809	HP:0000613	Photophobia
OMIM:610283	POC1B	282809	HP:0000510	Rod-cone dystrophy
OMIM:610283	POC1B	282809	HP:0000662	Nyctalopia
OMIM:610283	POC1B	282809	HP:0009926	Increased lacrimation
OMIM:610283	POC1B	282809	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	POC1B	282809	HP:0000007	Autosomal recessive inheritance
OMIM:610283	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	CRX	1406	HP:0000529	Progressive visual loss
OMIM:610283	CRX	1406	HP:0000608	Macular degeneration
OMIM:610283	CRX	1406	HP:0000613	Photophobia
OMIM:610283	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:610283	CRX	1406	HP:0000662	Nyctalopia
OMIM:610283	CRX	1406	HP:0009926	Increased lacrimation
OMIM:610283	CRX	1406	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:614331	PMS1	5378	HP:0000006	Autosomal dominant inheritance
OMIM:614331	MLH1	4292	HP:0000006	Autosomal dominant inheritance
OMIM:614331	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:614331	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:614331	EPCAM	4072	HP:0000006	Autosomal dominant inheritance
OMIM:614331	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:614331	MSH6	2956	HP:0000006	Autosomal dominant inheritance
OMIM:614331	RPS20	6224	HP:0000006	Autosomal dominant inheritance
OMIM:614331	BMPR1A	657	HP:0000006	Autosomal dominant inheritance
OMIM:614331	PMS2	5395	HP:0000006	Autosomal dominant inheritance
OMIM:614331	MSH2	4436	HP:0000006	Autosomal dominant inheritance
OMIM:614331	MLH3	27030	HP:0000006	Autosomal dominant inheritance
OMIM:614331	LRRFIP2	9209	HP:0000006	Autosomal dominant inheritance
OMIM:616201	SGOL1	151648	HP:0001653	Mitral regurgitation
OMIM:616201	SGOL1	151648	HP:0001642	Pulmonic stenosis
OMIM:616201	SGOL1	151648	HP:0001647	Bicuspid aortic valve
OMIM:616201	SGOL1	151648	HP:0004749	Atrial flutter
OMIM:616201	SGOL1	151648	HP:0001508	Failure to thrive
OMIM:616201	SGOL1	151648	HP:0005110	Atrial fibrillation
OMIM:616201	SGOL1	151648	HP:0001662	Bradycardia
OMIM:604367	PPP1R3A	5506	HP:0000464	Abnormality of the neck
OMIM:604367	PPP1R3A	5506	HP:0003233	Hypoalphalipoproteinemia
OMIM:604367	PPP1R3A	5506	HP:0001397	Hepatic steatosis
OMIM:604367	PPP1R3A	5506	HP:0100603	Toxemia of pregnancy
OMIM:604367	PPP1R3A	5506	HP:0001015	Prominent superficial veins
OMIM:604367	PPP1R3A	5506	HP:0002149	Hyperuricemia
OMIM:604367	PPP1R3A	5506	HP:0001677	Coronary artery disease
OMIM:604367	PPP1R3A	5506	HP:0000006	Autosomal dominant inheritance
OMIM:604367	PPP1R3A	5506	HP:0009125	Lipodystrophy
OMIM:604367	PPP1R3A	5506	HP:0000956	Acanthosis nigricans
OMIM:604367	PPP1R3A	5506	HP:0001394	Cirrhosis
OMIM:604367	PPP1R3A	5506	HP:0002155	Hypertriglyceridemia
OMIM:604367	PPP1R3A	5506	HP:0009800	Maternal diabetes
OMIM:604367	PPP1R3A	5506	HP:0000271	Abnormality of the face
OMIM:604367	PPP1R3A	5506	HP:0000147	Polycystic ovaries
OMIM:604367	PPP1R3A	5506	HP:0000842	Hyperinsulinemia
OMIM:604367	PPP1R3A	5506	HP:0000855	Insulin resistance
OMIM:604367	PPP1R3A	5506	HP:0000140	Abnormality of the menstrual cycle
OMIM:604367	PPP1R3A	5506	HP:0000822	Hypertension
OMIM:604367	PPP1R3A	5506	HP:0001002	Decreased subcutaneous fat
OMIM:604367	PPP1R3A	5506	HP:0000786	Primary amenorrhea
OMIM:604367	PPP1R3A	5506	HP:0001007	Hirsutism
OMIM:604367	PPP1R3A	5506	HP:0009017	Loss of gluteal subcutaneous adipose tissue
OMIM:604367	PPP1R3A	5506	HP:0100602	Preeclampsia
OMIM:604367	PPP1R3A	5506	HP:0000876	Oligomenorrhea
OMIM:604367	PPP1R3A	5506	HP:0003074	Hyperglycemia
OMIM:604367	PPP1R3A	5506	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:604367	PPP1R3A	5506	HP:0003011	Abnormality of the musculature
OMIM:604367	PPP1R3A	5506	HP:0003119	Abnormality of lipid metabolism
OMIM:604367	PPP1R3A	5506	HP:0000998	Hypertrichosis
OMIM:604367	PPP1R3A	5506	HP:0000819	Diabetes mellitus
OMIM:604367	PPP1R3A	5506	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:604367	PPARG	5468	HP:0000464	Abnormality of the neck
OMIM:604367	PPARG	5468	HP:0003233	Hypoalphalipoproteinemia
OMIM:604367	PPARG	5468	HP:0001397	Hepatic steatosis
OMIM:604367	PPARG	5468	HP:0100603	Toxemia of pregnancy
OMIM:604367	PPARG	5468	HP:0001015	Prominent superficial veins
OMIM:604367	PPARG	5468	HP:0002149	Hyperuricemia
OMIM:604367	PPARG	5468	HP:0001677	Coronary artery disease
OMIM:604367	PPARG	5468	HP:0000006	Autosomal dominant inheritance
OMIM:604367	PPARG	5468	HP:0009125	Lipodystrophy
OMIM:604367	PPARG	5468	HP:0000956	Acanthosis nigricans
OMIM:604367	PPARG	5468	HP:0001394	Cirrhosis
OMIM:604367	PPARG	5468	HP:0002155	Hypertriglyceridemia
OMIM:604367	PPARG	5468	HP:0009800	Maternal diabetes
OMIM:604367	PPARG	5468	HP:0000271	Abnormality of the face
OMIM:604367	PPARG	5468	HP:0000147	Polycystic ovaries
OMIM:604367	PPARG	5468	HP:0000842	Hyperinsulinemia
OMIM:604367	PPARG	5468	HP:0000855	Insulin resistance
OMIM:604367	PPARG	5468	HP:0000140	Abnormality of the menstrual cycle
OMIM:604367	PPARG	5468	HP:0000822	Hypertension
OMIM:604367	PPARG	5468	HP:0001002	Decreased subcutaneous fat
OMIM:604367	PPARG	5468	HP:0000786	Primary amenorrhea
OMIM:604367	PPARG	5468	HP:0001007	Hirsutism
OMIM:604367	PPARG	5468	HP:0009017	Loss of gluteal subcutaneous adipose tissue
OMIM:604367	PPARG	5468	HP:0100602	Preeclampsia
OMIM:604367	PPARG	5468	HP:0000876	Oligomenorrhea
OMIM:604367	PPARG	5468	HP:0003074	Hyperglycemia
OMIM:604367	PPARG	5468	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:604367	PPARG	5468	HP:0003011	Abnormality of the musculature
OMIM:604367	PPARG	5468	HP:0003119	Abnormality of lipid metabolism
OMIM:604367	PPARG	5468	HP:0000998	Hypertrichosis
OMIM:604367	PPARG	5468	HP:0000819	Diabetes mellitus
OMIM:604367	PPARG	5468	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:249420	SH3PXD2B	285590	HP:0000520	Proptosis
OMIM:249420	SH3PXD2B	285590	HP:0000767	Pectus excavatum
OMIM:249420	SH3PXD2B	285590	HP:0000557	Buphthalmos
OMIM:249420	SH3PXD2B	285590	HP:0001840	Metatarsus adductus
OMIM:249420	SH3PXD2B	285590	HP:0000494	Downslanted palpebral fissures
OMIM:249420	SH3PXD2B	285590	HP:0000212	Gingival overgrowth
OMIM:249420	SH3PXD2B	285590	HP:0000455	Broad nasal tip
OMIM:249420	SH3PXD2B	285590	HP:0001270	Motor delay
OMIM:249420	SH3PXD2B	285590	HP:0000154	Wide mouth
OMIM:249420	SH3PXD2B	285590	HP:0003015	Flared metaphysis
OMIM:249420	SH3PXD2B	285590	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:249420	SH3PXD2B	285590	HP:0011220	Prominent forehead
OMIM:249420	SH3PXD2B	285590	HP:0006487	Bowing of the long bones
OMIM:249420	SH3PXD2B	285590	HP:0001762	Talipes equinovarus
OMIM:249420	SH3PXD2B	285590	HP:0003026	Short long bone
OMIM:249420	SH3PXD2B	285590	HP:0009803	Short phalanx of finger
OMIM:249420	SH3PXD2B	285590	HP:0000916	Broad clavicles
OMIM:249420	SH3PXD2B	285590	HP:0000293	Full cheeks
OMIM:249420	SH3PXD2B	285590	HP:0000280	Coarse facial features
OMIM:249420	SH3PXD2B	285590	HP:0000270	Delayed cranial suture closure
OMIM:249420	SH3PXD2B	285590	HP:0000218	High palate
OMIM:249420	SH3PXD2B	285590	HP:0000939	Osteoporosis
OMIM:249420	SH3PXD2B	285590	HP:0001510	Growth delay
OMIM:249420	SH3PXD2B	285590	HP:0000347	Micrognathia
OMIM:249420	SH3PXD2B	285590	HP:0000411	Protruding ear
OMIM:249420	SH3PXD2B	285590	HP:0000369	Low-set ears
OMIM:249420	SH3PXD2B	285590	HP:0002645	Wormian bones
OMIM:249420	SH3PXD2B	285590	HP:0000316	Hypertelorism
OMIM:249420	SH3PXD2B	285590	HP:0001385	Hip dysplasia
OMIM:249420	SH3PXD2B	285590	HP:0000938	Osteopenia
OMIM:249420	SH3PXD2B	285590	HP:0005469	Flat occiput
OMIM:249420	SH3PXD2B	285590	HP:0000689	Dental malocclusion
OMIM:249420	SH3PXD2B	285590	HP:0001090	Large eyes
OMIM:611528	JUP	3728	HP:0004756	Ventricular tachycardia
OMIM:611528	JUP	3728	HP:0011663	Right ventricular cardiomyopathy
OMIM:611528	JUP	3728	HP:0001279	Syncope
OMIM:611528	JUP	3728	HP:0000006	Autosomal dominant inheritance
OMIM:611528	JUP	3728	HP:0001425	Heterogeneous
OMIM:614916	CALM1	801	HP:0001699	Sudden death
OMIM:614916	CALM1	801	HP:0004756	Ventricular tachycardia
OMIM:614916	CALM1	801	HP:0001695	Cardiac arrest
OMIM:614916	CALM1	801	HP:0001279	Syncope
OMIM:614916	CALM1	801	HP:0002321	Vertigo
OMIM:614916	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:614916	CALM2	805	HP:0001699	Sudden death
OMIM:614916	CALM2	805	HP:0004756	Ventricular tachycardia
OMIM:614916	CALM2	805	HP:0001695	Cardiac arrest
OMIM:614916	CALM2	805	HP:0001279	Syncope
OMIM:614916	CALM2	805	HP:0002321	Vertigo
OMIM:614916	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:614916	RYR2	6262	HP:0001699	Sudden death
OMIM:614916	RYR2	6262	HP:0004756	Ventricular tachycardia
OMIM:614916	RYR2	6262	HP:0001695	Cardiac arrest
OMIM:614916	RYR2	6262	HP:0001279	Syncope
OMIM:614916	RYR2	6262	HP:0002321	Vertigo
OMIM:614916	RYR2	6262	HP:0000006	Autosomal dominant inheritance
OMIM:614916	CALM3	808	HP:0001699	Sudden death
OMIM:614916	CALM3	808	HP:0004756	Ventricular tachycardia
OMIM:614916	CALM3	808	HP:0001695	Cardiac arrest
OMIM:614916	CALM3	808	HP:0001279	Syncope
OMIM:614916	CALM3	808	HP:0002321	Vertigo
OMIM:614916	CALM3	808	HP:0000006	Autosomal dominant inheritance
OMIM:614916	TRDN	10345	HP:0001699	Sudden death
OMIM:614916	TRDN	10345	HP:0004756	Ventricular tachycardia
OMIM:614916	TRDN	10345	HP:0001695	Cardiac arrest
OMIM:614916	TRDN	10345	HP:0001279	Syncope
OMIM:614916	TRDN	10345	HP:0002321	Vertigo
OMIM:614916	TRDN	10345	HP:0000006	Autosomal dominant inheritance
OMIM:614916	CASQ2	845	HP:0001699	Sudden death
OMIM:614916	CASQ2	845	HP:0004756	Ventricular tachycardia
OMIM:614916	CASQ2	845	HP:0001695	Cardiac arrest
OMIM:614916	CASQ2	845	HP:0001279	Syncope
OMIM:614916	CASQ2	845	HP:0002321	Vertigo
OMIM:614916	CASQ2	845	HP:0000006	Autosomal dominant inheritance
OMIM:613671	SOBP	55084	HP:0000540	Hypermetropia
OMIM:613671	SOBP	55084	HP:0001263	Global developmental delay
OMIM:613671	SOBP	55084	HP:0000709	Psychosis
OMIM:613671	SOBP	55084	HP:0000565	Esotropia
OMIM:613671	SOBP	55084	HP:0000646	Amblyopia
OMIM:613671	SOBP	55084	HP:0010864	Intellectual disability, severe
OMIM:613671	SOBP	55084	HP:0002465	Poor speech
OMIM:613671	SOBP	55084	HP:0000505	Visual impairment
OMIM:613671	SOBP	55084	HP:0000736	Short attention span
OMIM:613671	SOBP	55084	HP:0000007	Autosomal recessive inheritance
OMIM:613671	SOBP	55084	HP:0000750	Delayed speech and language development
OMIM:608940	PCYT1A	5130	HP:0008002	Abnormality of macular pigmentation
OMIM:608940	PCYT1A	5130	HP:0000887	Cupped ribs
OMIM:608940	PCYT1A	5130	HP:0008897	Postnatal growth retardation
OMIM:608940	PCYT1A	5130	HP:0000548	Cone/cone-rod dystrophy
OMIM:608940	PCYT1A	5130	HP:0000689	Dental malocclusion
OMIM:608940	PCYT1A	5130	HP:0003021	Metaphyseal cupping
OMIM:608940	PCYT1A	5130	HP:0002650	Scoliosis
OMIM:608940	PCYT1A	5130	HP:0002982	Tibial bowing
OMIM:608940	PCYT1A	5130	HP:0000007	Autosomal recessive inheritance
OMIM:608940	PCYT1A	5130	HP:0000551	Abnormality of color vision
OMIM:608940	PCYT1A	5130	HP:0000483	Astigmatism
OMIM:608940	PCYT1A	5130	HP:0002980	Femoral bowing
OMIM:608940	PCYT1A	5130	HP:0000639	Nystagmus
OMIM:608940	PCYT1A	5130	HP:0000505	Visual impairment
OMIM:608940	PCYT1A	5130	HP:0000545	Myopia
OMIM:608940	PCYT1A	5130	HP:0000540	Hypermetropia
OMIM:608940	PCYT1A	5130	HP:0007703	Abnormality of retinal pigmentation
OMIM:608940	PCYT1A	5130	HP:0000529	Progressive visual loss
OMIM:608940	PCYT1A	5130	HP:0003016	Metaphyseal widening
OMIM:608940	PCYT1A	5130	HP:0002812	Coxa vara
OMIM:608940	PCYT1A	5130	HP:0000403	Recurrent otitis media
OMIM:608940	PCYT1A	5130	HP:0001387	Joint stiffness
OMIM:608940	PCYT1A	5130	HP:0003025	Metaphyseal irregularity
OMIM:608940	PCYT1A	5130	HP:0010049	Short metacarpal
OMIM:608940	PCYT1A	5130	HP:0003307	Hyperlordosis
OMIM:608940	PCYT1A	5130	HP:0002657	Spondylometaphyseal dysplasia
OMIM:608940	PCYT1A	5130	HP:0003375	Narrow greater sacrosciatic notches
OMIM:608940	PCYT1A	5130	HP:0004565	Severe platyspondyly
OMIM:608940	PCYT1A	5130	HP:0003300	Ovoid vertebral bodies
OMIM:608940	PCYT1A	5130	HP:0008821	Hypoplastic inferior ilia
OMIM:608940	PCYT1A	5130	HP:0001156	Brachydactyly syndrome
OMIM:608940	PCYT1A	5130	HP:0009381	Short finger
OMIM:608940	PCYT1A	5130	HP:0001376	Limitation of joint mobility
OMIM:608940	PCYT1A	5130	HP:0000613	Photophobia
OMIM:608940	PCYT1A	5130	HP:0008905	Rhizomelia
OMIM:608265	MSRB3	253827	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:608265	BSND	7809	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:608265	ESPN	83715	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:608265	DFNB31	25861	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:608265	OTOA	146183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:608265	GJA1	2697	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:608265	MET	4233	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:608265	HGF	3082	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:608265	CLDN14	23562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:608265	PNPT1	87178	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:608265	EPS8	2059	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:608265	MYO3A	53904	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:608265	DCDC2	51473	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:608265	GJB2	2706	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:608265	GJB3	2707	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:608265	CABP2	51475	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:608265	GRXCR2	643226	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:608265	SERPINB6	5269	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:608265	COL11A2	1302	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:608265	CIB2	10518	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:608265	FAM65B	9750	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:608265	KARS	3735	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:608265	LOXHD1	125336	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:608265	TMC1	117531	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:608265	CLIC5	53405	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:608265	OTOF	9381	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:608265	MYO6	4646	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:608265	TMIE	259236	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:608265	MYO7A	4647	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:608265	LRTOMT	220074	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:608265	OTOGL	283310	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:608265	TPRN	286262	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:608265	SLC26A4	5172	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:608265	GJB6	10804	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:608265	DFNB59	494513	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:608265	ESRRB	2103	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:608265	TMPRSS3	64699	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:608265	PTPRQ	374462	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:608265	SLC26A5	375611	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:608265	PCDH15	65217	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:608265	TSPEAR	54084	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:608265	LHFPL5	222662	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:608265	TRIOBP	11078	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:608265	CDH23	64072	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:608265	RDX	5962	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:608265	GPSM2	29899	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:608265	ELMOD3	84173	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:608265	ILDR1	286676	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:608265	GRXCR1	389207	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:608265	MARVELD2	153562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:608265	STRC	161497	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:608265	SLITRK6	84189	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:608265	TECTA	7007	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:608265	MYO15A	51168	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:608265	USH1C	10083	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:608265	ADCY1	107	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:608265	SYNE4	163183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:608265	GIPC3	126326	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:608265	TBC1D24	57465	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:608265	OTOG	340990	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:615009	PACS1	55690	HP:0001249	Intellectual disability
OMIM:615009	PACS1	55690	HP:0000494	Downslanted palpebral fissures
OMIM:615009	PACS1	55690	HP:0006610	Wide intermamillary distance
OMIM:615009	PACS1	55690	HP:0000028	Cryptorchidism
OMIM:615009	PACS1	55690	HP:0001763	Pes planus
OMIM:615009	PACS1	55690	HP:0000006	Autosomal dominant inheritance
OMIM:615009	PACS1	55690	HP:0000369	Low-set ears
OMIM:615009	PACS1	55690	HP:0000664	Synophrys
OMIM:615009	PACS1	55690	HP:0000316	Hypertelorism
OMIM:615009	PACS1	55690	HP:0000414	Bulbous nose
OMIM:615009	PACS1	55690	HP:0000400	Macrotia
OMIM:615009	PACS1	55690	HP:0001263	Global developmental delay
OMIM:615009	PACS1	55690	HP:0011098	Speech apraxia
OMIM:615009	PACS1	55690	HP:0000527	Long eyelashes
OMIM:615009	PACS1	55690	HP:0000294	Low anterior hairline
OMIM:615009	PACS1	55690	HP:0002553	Highly arched eyebrow
OMIM:615009	PACS1	55690	HP:0000319	Smooth philtrum
OMIM:615009	PACS1	55690	HP:0001250	Seizures
OMIM:184253	COL2A1	1280	HP:0002812	Coxa vara
OMIM:184253	COL2A1	1280	HP:0002857	Genu valgum
OMIM:184253	COL2A1	1280	HP:0002983	Micromelia
OMIM:184253	COL2A1	1280	HP:0003510	Severe short stature
OMIM:184253	COL2A1	1280	HP:0002657	Spondylometaphyseal dysplasia
OMIM:184253	COL2A1	1280	HP:0001498	Carpal bone hypoplasia
OMIM:184253	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:184253	COL2A1	1280	HP:0100255	Metaphyseal dysplasia
OMIM:184253	COL2A1	1280	HP:0000545	Myopia
OMIM:184253	COL2A1	1280	HP:0002751	Kyphoscoliosis
OMIM:184253	COL2A1	1280	HP:0002938	Lumbar hyperlordosis
OMIM:184253	COL2A1	1280	HP:0006434	Hypoplasia of proximal radius
OMIM:184253	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
ORPHANET:3437	PTPN22	26191	HP:0000518	Cataract
ORPHANET:3437	PTPN22	26191	HP:0001053	Hypopigmented skin patches
ORPHANET:3437	PTPN22	26191	HP:0004322	Short stature
ORPHANET:3437	PTPN22	26191	HP:0000499	Abnormality of the eyelashes
ORPHANET:3437	PTPN22	26191	HP:0000505	Visual impairment
ORPHANET:3437	PTPN22	26191	HP:0000407	Sensorineural hearing impairment
ORPHANET:3437	PTPN22	26191	HP:0011362	Abnormal hair quantity
ORPHANET:3437	PTPN22	26191	HP:0100543	Cognitive impairment
ORPHANET:3437	PTPN22	26191	HP:0000501	Glaucoma
ORPHANET:3437	PTPN22	26191	HP:0000541	Retinal detachment
ORPHANET:3437	PTPN22	26191	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:3437	PTPN22	26191	HP:0002216	Premature graying of hair
OMIM:266130	GSS	2937	HP:0001249	Intellectual disability
OMIM:266130	GSS	2937	HP:0001250	Seizures
OMIM:266130	GSS	2937	HP:0000580	Pigmentary retinopathy
OMIM:266130	GSS	2937	HP:0000007	Autosomal recessive inheritance
OMIM:266130	GSS	2937	HP:0001260	Dysarthria
OMIM:266130	GSS	2937	HP:0001875	Neutropenia
OMIM:266130	GSS	2937	HP:0001251	Ataxia
OMIM:266130	GSS	2937	HP:0001285	Spastic tetraparesis
OMIM:266130	GSS	2937	HP:0001878	Hemolytic anemia
OMIM:166000	PTH1R	5745	HP:0001903	Anemia
OMIM:166000	PTH1R	5745	HP:0000826	Precocious puberty
OMIM:166000	PTH1R	5745	HP:0001376	Limitation of joint mobility
OMIM:166000	PTH1R	5745	HP:0200042	Skin ulcer
OMIM:166000	PTH1R	5745	HP:0001928	Abnormality of coagulation
OMIM:166000	PTH1R	5745	HP:0000944	Abnormality of the metaphyses
OMIM:166000	PTH1R	5745	HP:0100615	Ovarian neoplasm
OMIM:166000	PTH1R	5745	HP:0004418	Thrombophlebitis
OMIM:166000	PTH1R	5745	HP:0002797	Osteolysis
OMIM:166000	PTH1R	5745	HP:0002653	Bone pain
OMIM:166000	PTH1R	5745	HP:0000926	Platyspondyly
OMIM:166000	PTH1R	5745	HP:0002983	Micromelia
OMIM:166000	IDH1	3417	HP:0001903	Anemia
OMIM:166000	IDH1	3417	HP:0000826	Precocious puberty
OMIM:166000	IDH1	3417	HP:0001376	Limitation of joint mobility
OMIM:166000	IDH1	3417	HP:0200042	Skin ulcer
OMIM:166000	IDH1	3417	HP:0001928	Abnormality of coagulation
OMIM:166000	IDH1	3417	HP:0000944	Abnormality of the metaphyses
OMIM:166000	IDH1	3417	HP:0100615	Ovarian neoplasm
OMIM:166000	IDH1	3417	HP:0004418	Thrombophlebitis
OMIM:166000	IDH1	3417	HP:0002797	Osteolysis
OMIM:166000	IDH1	3417	HP:0002653	Bone pain
OMIM:166000	IDH1	3417	HP:0000926	Platyspondyly
OMIM:166000	IDH1	3417	HP:0002983	Micromelia
OMIM:166000	IDH2	3418	HP:0001903	Anemia
OMIM:166000	IDH2	3418	HP:0000826	Precocious puberty
OMIM:166000	IDH2	3418	HP:0001376	Limitation of joint mobility
OMIM:166000	IDH2	3418	HP:0200042	Skin ulcer
OMIM:166000	IDH2	3418	HP:0001928	Abnormality of coagulation
OMIM:166000	IDH2	3418	HP:0000944	Abnormality of the metaphyses
OMIM:166000	IDH2	3418	HP:0100615	Ovarian neoplasm
OMIM:166000	IDH2	3418	HP:0004418	Thrombophlebitis
OMIM:166000	IDH2	3418	HP:0002797	Osteolysis
OMIM:166000	IDH2	3418	HP:0002653	Bone pain
OMIM:166000	IDH2	3418	HP:0000926	Platyspondyly
OMIM:166000	IDH2	3418	HP:0002983	Micromelia
OMIM:193200	NLRP1	22861	HP:0001045	Vitiligo
OMIM:193200	NLRP1	22861	HP:0003764	Nevus
OMIM:193200	FOXD3	27022	HP:0001045	Vitiligo
OMIM:193200	FOXD3	27022	HP:0003764	Nevus
OMIM:609033	FLVCR1	28982	HP:0002571	Achalasia
OMIM:609033	FLVCR1	28982	HP:0000550	Undetectable electroretinogram
OMIM:609033	FLVCR1	28982	HP:0003677	Slow progression
OMIM:609033	FLVCR1	28982	HP:0011463	Childhood onset
OMIM:609033	FLVCR1	28982	HP:0000575	Scotoma
OMIM:609033	FLVCR1	28982	HP:0009473	Joint contracture of the hand
OMIM:609033	FLVCR1	28982	HP:0003448	Decreased sensory nerve conduction velocity
OMIM:609033	FLVCR1	28982	HP:0000007	Autosomal recessive inheritance
OMIM:609033	FLVCR1	28982	HP:0000648	Optic atrophy
OMIM:609033	FLVCR1	28982	HP:0003202	Skeletal muscle atrophy
OMIM:609033	FLVCR1	28982	HP:0001284	Areflexia
OMIM:609033	FLVCR1	28982	HP:0000020	Urinary incontinence
OMIM:609033	FLVCR1	28982	HP:0002460	Distal muscle weakness
OMIM:609033	FLVCR1	28982	HP:0002650	Scoliosis
OMIM:609033	FLVCR1	28982	HP:0000510	Rod-cone dystrophy
OMIM:609033	FLVCR1	28982	HP:0001249	Intellectual disability
OMIM:609033	FLVCR1	28982	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:609033	FLVCR1	28982	HP:0007737	Bone spicule pigmentation of the retina
OMIM:609033	FLVCR1	28982	HP:0012385	Camptodactyly
OMIM:609033	FLVCR1	28982	HP:0000618	Blindness
OMIM:609033	FLVCR1	28982	HP:0000010	Recurrent urinary tract infections
OMIM:615426	TREM2	54209	HP:0003560	Muscular dystrophy
OMIM:615426	TREM2	54209	HP:0003805	Rimmed vacuoles
OMIM:615426	TREM2	54209	HP:0000006	Autosomal dominant inheritance
OMIM:615426	VAPB	9217	HP:0003560	Muscular dystrophy
OMIM:615426	VAPB	9217	HP:0003805	Rimmed vacuoles
OMIM:615426	VAPB	9217	HP:0000006	Autosomal dominant inheritance
OMIM:615426	PON1	5444	HP:0003560	Muscular dystrophy
OMIM:615426	PON1	5444	HP:0003805	Rimmed vacuoles
OMIM:615426	PON1	5444	HP:0000006	Autosomal dominant inheritance
OMIM:615426	PON2	5445	HP:0003560	Muscular dystrophy
OMIM:615426	PON2	5445	HP:0003805	Rimmed vacuoles
OMIM:615426	PON2	5445	HP:0000006	Autosomal dominant inheritance
OMIM:615426	PON3	5446	HP:0003560	Muscular dystrophy
OMIM:615426	PON3	5446	HP:0003805	Rimmed vacuoles
OMIM:615426	PON3	5446	HP:0000006	Autosomal dominant inheritance
OMIM:615426	NEFH	4744	HP:0003560	Muscular dystrophy
OMIM:615426	NEFH	4744	HP:0003805	Rimmed vacuoles
OMIM:615426	NEFH	4744	HP:0000006	Autosomal dominant inheritance
OMIM:615426	DAO	1610	HP:0003560	Muscular dystrophy
OMIM:615426	DAO	1610	HP:0003805	Rimmed vacuoles
OMIM:615426	DAO	1610	HP:0000006	Autosomal dominant inheritance
OMIM:615426	TARDBP	23435	HP:0003560	Muscular dystrophy
OMIM:615426	TARDBP	23435	HP:0003805	Rimmed vacuoles
OMIM:615426	TARDBP	23435	HP:0000006	Autosomal dominant inheritance
OMIM:615426	PPARGC1A	10891	HP:0003560	Muscular dystrophy
OMIM:615426	PPARGC1A	10891	HP:0003805	Rimmed vacuoles
OMIM:615426	PPARGC1A	10891	HP:0000006	Autosomal dominant inheritance
OMIM:615426	ERBB4	2066	HP:0003560	Muscular dystrophy
OMIM:615426	ERBB4	2066	HP:0003805	Rimmed vacuoles
OMIM:615426	ERBB4	2066	HP:0000006	Autosomal dominant inheritance
OMIM:615426	CHCHD10	400916	HP:0003560	Muscular dystrophy
OMIM:615426	CHCHD10	400916	HP:0003805	Rimmed vacuoles
OMIM:615426	CHCHD10	400916	HP:0000006	Autosomal dominant inheritance
OMIM:615426	OPTN	10133	HP:0003560	Muscular dystrophy
OMIM:615426	OPTN	10133	HP:0003805	Rimmed vacuoles
OMIM:615426	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:615426	FUS	2521	HP:0003560	Muscular dystrophy
OMIM:615426	FUS	2521	HP:0003805	Rimmed vacuoles
OMIM:615426	FUS	2521	HP:0000006	Autosomal dominant inheritance
OMIM:615426	UBQLN2	29978	HP:0003560	Muscular dystrophy
OMIM:615426	UBQLN2	29978	HP:0003805	Rimmed vacuoles
OMIM:615426	UBQLN2	29978	HP:0000006	Autosomal dominant inheritance
OMIM:615426	ANG	283	HP:0003560	Muscular dystrophy
OMIM:615426	ANG	283	HP:0003805	Rimmed vacuoles
OMIM:615426	ANG	283	HP:0000006	Autosomal dominant inheritance
OMIM:615426	C9ORF72	203228	HP:0003560	Muscular dystrophy
OMIM:615426	C9ORF72	203228	HP:0003805	Rimmed vacuoles
OMIM:615426	C9ORF72	203228	HP:0000006	Autosomal dominant inheritance
OMIM:615426	PFN1	5216	HP:0003560	Muscular dystrophy
OMIM:615426	PFN1	5216	HP:0003805	Rimmed vacuoles
OMIM:615426	PFN1	5216	HP:0000006	Autosomal dominant inheritance
OMIM:615426	ATXN2	6311	HP:0003560	Muscular dystrophy
OMIM:615426	ATXN2	6311	HP:0003805	Rimmed vacuoles
OMIM:615426	ATXN2	6311	HP:0000006	Autosomal dominant inheritance
OMIM:615426	DCTN1	1639	HP:0003560	Muscular dystrophy
OMIM:615426	DCTN1	1639	HP:0003805	Rimmed vacuoles
OMIM:615426	DCTN1	1639	HP:0000006	Autosomal dominant inheritance
OMIM:615426	FIG4	9896	HP:0003560	Muscular dystrophy
OMIM:615426	FIG4	9896	HP:0003805	Rimmed vacuoles
OMIM:615426	FIG4	9896	HP:0000006	Autosomal dominant inheritance
OMIM:615426	HNRNPA1	3178	HP:0003560	Muscular dystrophy
OMIM:615426	HNRNPA1	3178	HP:0003805	Rimmed vacuoles
OMIM:615426	HNRNPA1	3178	HP:0000006	Autosomal dominant inheritance
OMIM:615426	SQSTM1	8878	HP:0003560	Muscular dystrophy
OMIM:615426	SQSTM1	8878	HP:0003805	Rimmed vacuoles
OMIM:615426	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:615426	UNC13A	23025	HP:0003560	Muscular dystrophy
OMIM:615426	UNC13A	23025	HP:0003805	Rimmed vacuoles
OMIM:615426	UNC13A	23025	HP:0000006	Autosomal dominant inheritance
OMIM:615426	MATR3	9782	HP:0003560	Muscular dystrophy
OMIM:615426	MATR3	9782	HP:0003805	Rimmed vacuoles
OMIM:615426	MATR3	9782	HP:0000006	Autosomal dominant inheritance
OMIM:615426	TBK1	29110	HP:0003560	Muscular dystrophy
OMIM:615426	TBK1	29110	HP:0003805	Rimmed vacuoles
OMIM:615426	TBK1	29110	HP:0000006	Autosomal dominant inheritance
OMIM:615426	SOD1	6647	HP:0003560	Muscular dystrophy
OMIM:615426	SOD1	6647	HP:0003805	Rimmed vacuoles
OMIM:615426	SOD1	6647	HP:0000006	Autosomal dominant inheritance
OMIM:615426	VCP	7415	HP:0003560	Muscular dystrophy
OMIM:615426	VCP	7415	HP:0003805	Rimmed vacuoles
OMIM:615426	VCP	7415	HP:0000006	Autosomal dominant inheritance
OMIM:615426	CHMP2B	25978	HP:0003560	Muscular dystrophy
OMIM:615426	CHMP2B	25978	HP:0003805	Rimmed vacuoles
OMIM:615426	CHMP2B	25978	HP:0000006	Autosomal dominant inheritance
OMIM:615426	PRPH	5630	HP:0003560	Muscular dystrophy
OMIM:615426	PRPH	5630	HP:0003805	Rimmed vacuoles
OMIM:615426	PRPH	5630	HP:0000006	Autosomal dominant inheritance
OMIM:119500	IRF6	3664	HP:0100335	Non-midline cleft lip
OMIM:119500	IRF6	3664	HP:0000233	Thin vermilion border
OMIM:119500	IRF6	3664	HP:0002650	Scoliosis
OMIM:119500	IRF6	3664	HP:0001883	Talipes
OMIM:119500	IRF6	3664	HP:0001171	Split hand
OMIM:119500	IRF6	3664	HP:0000046	Scrotal hypoplasia
OMIM:119500	IRF6	3664	HP:0006101	Finger syndactyly
OMIM:119500	IRF6	3664	HP:0000998	Hypertrichosis
OMIM:119500	IRF6	3664	HP:0008726	Hypoplasia of the vagina
OMIM:119500	IRF6	3664	HP:0000175	Cleft palate
OMIM:119500	IRF6	3664	HP:0000028	Cryptorchidism
OMIM:119500	IRF6	3664	HP:0008388	Abnormality of the toenails
OMIM:119500	IRF6	3664	HP:0000062	Ambiguous genitalia
OMIM:119500	IRF6	3664	HP:0000055	Abnormality of female external genitalia
OMIM:119500	IRF6	3664	HP:0000204	Cleft upper lip
OMIM:119500	IRF6	3664	HP:0000453	Choanal atresia
OMIM:119500	IRF6	3664	HP:0000726	Dementia
OMIM:119500	IRF6	3664	HP:0001770	Toe syndactyly
OMIM:119500	IRF6	3664	HP:0000013	Hypoplasia of the uterus
OMIM:119500	IRF6	3664	HP:0001376	Limitation of joint mobility
OMIM:119500	IRF6	3664	HP:0000347	Micrognathia
OMIM:119500	IRF6	3664	HP:0009755	Ankyloblepharon
OMIM:119500	IRF6	3664	HP:0000048	Bifid scrotum
OMIM:119500	IRF6	3664	HP:0000772	Abnormality of the ribs
OMIM:119500	IRF6	3664	HP:0010554	Cutaneous finger syndactyly
OMIM:119500	IRF6	3664	HP:0100543	Cognitive impairment
OMIM:119500	IRF6	3664	HP:0000006	Autosomal dominant inheritance
OMIM:119500	IRF6	3664	HP:0001762	Talipes equinovarus
OMIM:119500	IRF6	3664	HP:0003298	Spina bifida occulta
OMIM:119500	IRF6	3664	HP:0008050	Abnormality of the palpebral fissures
OMIM:174810	TNFRSF11A	8792	HP:0002653	Bone pain
OMIM:174810	TNFRSF11A	8792	HP:0002756	Pathologic fracture
OMIM:174810	TNFRSF11A	8792	HP:0002797	Osteolysis
OMIM:174810	TNFRSF11A	8792	HP:0000006	Autosomal dominant inheritance
OMIM:174810	TNFRSF11A	8792	HP:0000405	Conductive hearing impairment
ORPHANET:528	FOS	2353	HP:0003712	Skeletal muscle hypertrophy
ORPHANET:528	FOS	2353	HP:0000845	Growth hormone excess
ORPHANET:528	FOS	2353	HP:0002240	Hepatomegaly
ORPHANET:528	FOS	2353	HP:0005616	Accelerated skeletal maturation
ORPHANET:528	FOS	2353	HP:0000819	Diabetes mellitus
ORPHANET:528	FOS	2353	HP:0000826	Precocious puberty
ORPHANET:528	FOS	2353	HP:0002119	Ventriculomegaly
ORPHANET:528	FOS	2353	HP:0003119	Abnormality of lipid metabolism
ORPHANET:528	FOS	2353	HP:0000303	Mandibular prognathia
ORPHANET:528	FOS	2353	HP:0000998	Hypertrichosis
ORPHANET:528	FOS	2353	HP:0000842	Hyperinsulinemia
ORPHANET:528	FOS	2353	HP:0000855	Insulin resistance
ORPHANET:528	FOS	2353	HP:0000163	Abnormality of the oral cavity
ORPHANET:528	FOS	2353	HP:0001394	Cirrhosis
ORPHANET:528	FOS	2353	HP:0100543	Cognitive impairment
ORPHANET:528	FOS	2353	HP:0001000	Abnormality of skin pigmentation
ORPHANET:528	FOS	2353	HP:0100578	Lipoatrophy
ORPHANET:528	FOS	2353	HP:0000975	Hyperhidrosis
ORPHANET:528	FOS	2353	HP:0001733	Pancreatitis
ORPHANET:528	FOS	2353	HP:0002757	Recurrent fractures
ORPHANET:528	FOS	2353	HP:0001677	Coronary artery disease
ORPHANET:528	FOS	2353	HP:0000147	Polycystic ovaries
ORPHANET:528	FOS	2353	HP:0001399	Hepatic failure
ORPHANET:528	FOS	2353	HP:0000112	Nephropathy
ORPHANET:528	FOS	2353	HP:0001397	Hepatic steatosis
ORPHANET:528	FOS	2353	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:528	FOS	2353	HP:0009830	Peripheral neuropathy
ORPHANET:528	FOS	2353	HP:0000336	Prominent supraorbital ridges
ORPHANET:528	FOS	2353	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:528	FOS	2353	HP:0000083	Renal insufficiency
ORPHANET:528	FOS	2353	HP:0000956	Acanthosis nigricans
ORPHANET:528	FOS	2353	HP:0001176	Large hands
ORPHANET:528	BSCL2	26580	HP:0003712	Skeletal muscle hypertrophy
ORPHANET:528	BSCL2	26580	HP:0000845	Growth hormone excess
ORPHANET:528	BSCL2	26580	HP:0002240	Hepatomegaly
ORPHANET:528	BSCL2	26580	HP:0005616	Accelerated skeletal maturation
ORPHANET:528	BSCL2	26580	HP:0000819	Diabetes mellitus
ORPHANET:528	BSCL2	26580	HP:0000826	Precocious puberty
ORPHANET:528	BSCL2	26580	HP:0002119	Ventriculomegaly
ORPHANET:528	BSCL2	26580	HP:0003119	Abnormality of lipid metabolism
ORPHANET:528	BSCL2	26580	HP:0000303	Mandibular prognathia
ORPHANET:528	BSCL2	26580	HP:0000998	Hypertrichosis
ORPHANET:528	BSCL2	26580	HP:0000842	Hyperinsulinemia
ORPHANET:528	BSCL2	26580	HP:0000855	Insulin resistance
ORPHANET:528	BSCL2	26580	HP:0000163	Abnormality of the oral cavity
ORPHANET:528	BSCL2	26580	HP:0001394	Cirrhosis
ORPHANET:528	BSCL2	26580	HP:0100543	Cognitive impairment
ORPHANET:528	BSCL2	26580	HP:0001000	Abnormality of skin pigmentation
ORPHANET:528	BSCL2	26580	HP:0100578	Lipoatrophy
ORPHANET:528	BSCL2	26580	HP:0000975	Hyperhidrosis
ORPHANET:528	BSCL2	26580	HP:0001733	Pancreatitis
ORPHANET:528	BSCL2	26580	HP:0002757	Recurrent fractures
ORPHANET:528	BSCL2	26580	HP:0001677	Coronary artery disease
ORPHANET:528	BSCL2	26580	HP:0000147	Polycystic ovaries
ORPHANET:528	BSCL2	26580	HP:0001399	Hepatic failure
ORPHANET:528	BSCL2	26580	HP:0000112	Nephropathy
ORPHANET:528	BSCL2	26580	HP:0001397	Hepatic steatosis
ORPHANET:528	BSCL2	26580	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:528	BSCL2	26580	HP:0009830	Peripheral neuropathy
ORPHANET:528	BSCL2	26580	HP:0000336	Prominent supraorbital ridges
ORPHANET:528	BSCL2	26580	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:528	BSCL2	26580	HP:0000083	Renal insufficiency
ORPHANET:528	BSCL2	26580	HP:0000956	Acanthosis nigricans
ORPHANET:528	BSCL2	26580	HP:0001176	Large hands
ORPHANET:528	CAV1	857	HP:0003712	Skeletal muscle hypertrophy
ORPHANET:528	CAV1	857	HP:0000845	Growth hormone excess
ORPHANET:528	CAV1	857	HP:0002240	Hepatomegaly
ORPHANET:528	CAV1	857	HP:0005616	Accelerated skeletal maturation
ORPHANET:528	CAV1	857	HP:0000819	Diabetes mellitus
ORPHANET:528	CAV1	857	HP:0000826	Precocious puberty
ORPHANET:528	CAV1	857	HP:0002119	Ventriculomegaly
ORPHANET:528	CAV1	857	HP:0003119	Abnormality of lipid metabolism
ORPHANET:528	CAV1	857	HP:0000303	Mandibular prognathia
ORPHANET:528	CAV1	857	HP:0000998	Hypertrichosis
ORPHANET:528	CAV1	857	HP:0000842	Hyperinsulinemia
ORPHANET:528	CAV1	857	HP:0000855	Insulin resistance
ORPHANET:528	CAV1	857	HP:0000163	Abnormality of the oral cavity
ORPHANET:528	CAV1	857	HP:0001394	Cirrhosis
ORPHANET:528	CAV1	857	HP:0100543	Cognitive impairment
ORPHANET:528	CAV1	857	HP:0001000	Abnormality of skin pigmentation
ORPHANET:528	CAV1	857	HP:0100578	Lipoatrophy
ORPHANET:528	CAV1	857	HP:0000975	Hyperhidrosis
ORPHANET:528	CAV1	857	HP:0001733	Pancreatitis
ORPHANET:528	CAV1	857	HP:0002757	Recurrent fractures
ORPHANET:528	CAV1	857	HP:0001677	Coronary artery disease
ORPHANET:528	CAV1	857	HP:0000147	Polycystic ovaries
ORPHANET:528	CAV1	857	HP:0001399	Hepatic failure
ORPHANET:528	CAV1	857	HP:0000112	Nephropathy
ORPHANET:528	CAV1	857	HP:0001397	Hepatic steatosis
ORPHANET:528	CAV1	857	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:528	CAV1	857	HP:0009830	Peripheral neuropathy
ORPHANET:528	CAV1	857	HP:0000336	Prominent supraorbital ridges
ORPHANET:528	CAV1	857	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:528	CAV1	857	HP:0000083	Renal insufficiency
ORPHANET:528	CAV1	857	HP:0000956	Acanthosis nigricans
ORPHANET:528	CAV1	857	HP:0001176	Large hands
ORPHANET:528	AGPAT2	10555	HP:0003712	Skeletal muscle hypertrophy
ORPHANET:528	AGPAT2	10555	HP:0000845	Growth hormone excess
ORPHANET:528	AGPAT2	10555	HP:0002240	Hepatomegaly
ORPHANET:528	AGPAT2	10555	HP:0005616	Accelerated skeletal maturation
ORPHANET:528	AGPAT2	10555	HP:0000819	Diabetes mellitus
ORPHANET:528	AGPAT2	10555	HP:0000826	Precocious puberty
ORPHANET:528	AGPAT2	10555	HP:0002119	Ventriculomegaly
ORPHANET:528	AGPAT2	10555	HP:0003119	Abnormality of lipid metabolism
ORPHANET:528	AGPAT2	10555	HP:0000303	Mandibular prognathia
ORPHANET:528	AGPAT2	10555	HP:0000998	Hypertrichosis
ORPHANET:528	AGPAT2	10555	HP:0000842	Hyperinsulinemia
ORPHANET:528	AGPAT2	10555	HP:0000855	Insulin resistance
ORPHANET:528	AGPAT2	10555	HP:0000163	Abnormality of the oral cavity
ORPHANET:528	AGPAT2	10555	HP:0001394	Cirrhosis
ORPHANET:528	AGPAT2	10555	HP:0100543	Cognitive impairment
ORPHANET:528	AGPAT2	10555	HP:0001000	Abnormality of skin pigmentation
ORPHANET:528	AGPAT2	10555	HP:0100578	Lipoatrophy
ORPHANET:528	AGPAT2	10555	HP:0000975	Hyperhidrosis
ORPHANET:528	AGPAT2	10555	HP:0001733	Pancreatitis
ORPHANET:528	AGPAT2	10555	HP:0002757	Recurrent fractures
ORPHANET:528	AGPAT2	10555	HP:0001677	Coronary artery disease
ORPHANET:528	AGPAT2	10555	HP:0000147	Polycystic ovaries
ORPHANET:528	AGPAT2	10555	HP:0001399	Hepatic failure
ORPHANET:528	AGPAT2	10555	HP:0000112	Nephropathy
ORPHANET:528	AGPAT2	10555	HP:0001397	Hepatic steatosis
ORPHANET:528	AGPAT2	10555	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:528	AGPAT2	10555	HP:0009830	Peripheral neuropathy
ORPHANET:528	AGPAT2	10555	HP:0000336	Prominent supraorbital ridges
ORPHANET:528	AGPAT2	10555	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:528	AGPAT2	10555	HP:0000083	Renal insufficiency
ORPHANET:528	AGPAT2	10555	HP:0000956	Acanthosis nigricans
ORPHANET:528	AGPAT2	10555	HP:0001176	Large hands
ORPHANET:528	PPARG	5468	HP:0003712	Skeletal muscle hypertrophy
ORPHANET:528	PPARG	5468	HP:0000845	Growth hormone excess
ORPHANET:528	PPARG	5468	HP:0002240	Hepatomegaly
ORPHANET:528	PPARG	5468	HP:0005616	Accelerated skeletal maturation
ORPHANET:528	PPARG	5468	HP:0000819	Diabetes mellitus
ORPHANET:528	PPARG	5468	HP:0000826	Precocious puberty
ORPHANET:528	PPARG	5468	HP:0002119	Ventriculomegaly
ORPHANET:528	PPARG	5468	HP:0003119	Abnormality of lipid metabolism
ORPHANET:528	PPARG	5468	HP:0000303	Mandibular prognathia
ORPHANET:528	PPARG	5468	HP:0000998	Hypertrichosis
ORPHANET:528	PPARG	5468	HP:0000842	Hyperinsulinemia
ORPHANET:528	PPARG	5468	HP:0000855	Insulin resistance
ORPHANET:528	PPARG	5468	HP:0000163	Abnormality of the oral cavity
ORPHANET:528	PPARG	5468	HP:0001394	Cirrhosis
ORPHANET:528	PPARG	5468	HP:0100543	Cognitive impairment
ORPHANET:528	PPARG	5468	HP:0001000	Abnormality of skin pigmentation
ORPHANET:528	PPARG	5468	HP:0100578	Lipoatrophy
ORPHANET:528	PPARG	5468	HP:0000975	Hyperhidrosis
ORPHANET:528	PPARG	5468	HP:0001733	Pancreatitis
ORPHANET:528	PPARG	5468	HP:0002757	Recurrent fractures
ORPHANET:528	PPARG	5468	HP:0001677	Coronary artery disease
ORPHANET:528	PPARG	5468	HP:0000147	Polycystic ovaries
ORPHANET:528	PPARG	5468	HP:0001399	Hepatic failure
ORPHANET:528	PPARG	5468	HP:0000112	Nephropathy
ORPHANET:528	PPARG	5468	HP:0001397	Hepatic steatosis
ORPHANET:528	PPARG	5468	HP:0000140	Abnormality of the menstrual cycle
ORPHANET:528	PPARG	5468	HP:0009830	Peripheral neuropathy
ORPHANET:528	PPARG	5468	HP:0000336	Prominent supraorbital ridges
ORPHANET:528	PPARG	5468	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:528	PPARG	5468	HP:0000083	Renal insufficiency
ORPHANET:528	PPARG	5468	HP:0000956	Acanthosis nigricans
ORPHANET:528	PPARG	5468	HP:0001176	Large hands
OMIM:158330	WNT4	54361	HP:0000141	Amenorrhea
OMIM:158330	WNT4	54361	HP:0008655	Aplasia/Hypoplasia of the fallopian tube
OMIM:158330	WNT4	54361	HP:0000006	Autosomal dominant inheritance
OMIM:158330	WNT4	54361	HP:0000122	Unilateral renal agenesis
OMIM:158330	WNT4	54361	HP:0001061	Acne
OMIM:158330	WNT4	54361	HP:0000151	Aplasia of the uterus
OMIM:158330	WNT4	54361	HP:0001007	Hirsutism
OMIM:610153	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:610153	MSRB3	253827	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:610153	BSND	7809	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:610153	ESPN	83715	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:610153	DFNB31	25861	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:610153	OTOA	146183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:610153	GJA1	2697	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:610153	MET	4233	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:610153	CLDN14	23562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:610153	HGF	3082	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:610153	PNPT1	87178	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:610153	EPS8	2059	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:610153	MYO3A	53904	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:610153	DCDC2	51473	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:610153	GJB2	2706	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:610153	GJB3	2707	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:610153	CABP2	51475	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:610153	GRXCR2	643226	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:610153	SERPINB6	5269	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:610153	COL11A2	1302	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:610153	CIB2	10518	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:610153	FAM65B	9750	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:610153	KARS	3735	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:610153	LOXHD1	125336	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:610153	TMC1	117531	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:610153	CLIC5	53405	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:610153	OTOF	9381	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:610153	MYO6	4646	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:610153	TMIE	259236	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:610153	MYO7A	4647	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:610153	LRTOMT	220074	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:610153	OTOGL	283310	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:610153	TPRN	286262	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:610153	SLC26A4	5172	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:610153	GJB6	10804	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:610153	DFNB59	494513	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:610153	ESRRB	2103	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:610153	TMPRSS3	64699	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:610153	PTPRQ	374462	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:610153	SLC26A5	375611	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:610153	PCDH15	65217	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:610153	TSPEAR	54084	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:610153	LHFPL5	222662	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:610153	TRIOBP	11078	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:610153	CDH23	64072	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:610153	RDX	5962	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:610153	GPSM2	29899	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:610153	ELMOD3	84173	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:610153	ILDR1	286676	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:610153	GRXCR1	389207	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:610153	MARVELD2	153562	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:610153	STRC	161497	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:610153	SLITRK6	84189	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:610153	TECTA	7007	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:610153	MYO15A	51168	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:610153	USH1C	10083	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:610153	ADCY1	107	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:610153	SYNE4	163183	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:610153	GIPC3	126326	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:610153	TBC1D24	57465	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610153	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:610153	OTOG	340990	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:614742	IFNG	3458	HP:0002206	Pulmonary fibrosis
OMIM:614742	IFNG	3458	HP:0001909	Leukemia
OMIM:614742	IFNG	3458	HP:0000006	Autosomal dominant inheritance
OMIM:614742	IFNG	3458	HP:0001915	Aplastic anemia
OMIM:614742	IFNG	3458	HP:0003581	Adult onset
OMIM:614742	IFNG	3458	HP:0001394	Cirrhosis
OMIM:614742	IFNG	3458	HP:0005528	Bone marrow hypocellularity
OMIM:614742	IFNG	3458	HP:0002216	Premature graying of hair
OMIM:614742	IFNG	3458	HP:0003829	Incomplete penetrance
OMIM:614742	TERC	7012	HP:0002206	Pulmonary fibrosis
OMIM:614742	TERC	7012	HP:0001909	Leukemia
OMIM:614742	TERC	7012	HP:0000006	Autosomal dominant inheritance
OMIM:614742	TERC	7012	HP:0001915	Aplastic anemia
OMIM:614742	TERC	7012	HP:0003581	Adult onset
OMIM:614742	TERC	7012	HP:0001394	Cirrhosis
OMIM:614742	TERC	7012	HP:0005528	Bone marrow hypocellularity
OMIM:614742	TERC	7012	HP:0002216	Premature graying of hair
OMIM:614742	TERC	7012	HP:0003829	Incomplete penetrance
OMIM:614742	TERT	7015	HP:0002206	Pulmonary fibrosis
OMIM:614742	TERT	7015	HP:0001909	Leukemia
OMIM:614742	TERT	7015	HP:0000006	Autosomal dominant inheritance
OMIM:614742	TERT	7015	HP:0001915	Aplastic anemia
OMIM:614742	TERT	7015	HP:0003581	Adult onset
OMIM:614742	TERT	7015	HP:0001394	Cirrhosis
OMIM:614742	TERT	7015	HP:0005528	Bone marrow hypocellularity
OMIM:614742	TERT	7015	HP:0002216	Premature graying of hair
OMIM:614742	TERT	7015	HP:0003829	Incomplete penetrance
OMIM:614742	PRF1	5551	HP:0002206	Pulmonary fibrosis
OMIM:614742	PRF1	5551	HP:0001909	Leukemia
OMIM:614742	PRF1	5551	HP:0000006	Autosomal dominant inheritance
OMIM:614742	PRF1	5551	HP:0001915	Aplastic anemia
OMIM:614742	PRF1	5551	HP:0003581	Adult onset
OMIM:614742	PRF1	5551	HP:0001394	Cirrhosis
OMIM:614742	PRF1	5551	HP:0005528	Bone marrow hypocellularity
OMIM:614742	PRF1	5551	HP:0002216	Premature graying of hair
OMIM:614742	PRF1	5551	HP:0003829	Incomplete penetrance
OMIM:614742	SBDS	51119	HP:0002206	Pulmonary fibrosis
OMIM:614742	SBDS	51119	HP:0001909	Leukemia
OMIM:614742	SBDS	51119	HP:0000006	Autosomal dominant inheritance
OMIM:614742	SBDS	51119	HP:0001915	Aplastic anemia
OMIM:614742	SBDS	51119	HP:0003581	Adult onset
OMIM:614742	SBDS	51119	HP:0001394	Cirrhosis
OMIM:614742	SBDS	51119	HP:0005528	Bone marrow hypocellularity
OMIM:614742	SBDS	51119	HP:0002216	Premature graying of hair
OMIM:614742	SBDS	51119	HP:0003829	Incomplete penetrance
OMIM:111620	ERMAP	114625	HP:0010701	Abnormal immunoglobulin level
OMIM:616042	MSRB3	253827	HP:0008568	Vestibular areflexia
OMIM:616042	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:616042	BSND	7809	HP:0008568	Vestibular areflexia
OMIM:616042	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:616042	ESPN	83715	HP:0008568	Vestibular areflexia
OMIM:616042	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:616042	DFNB31	25861	HP:0008568	Vestibular areflexia
OMIM:616042	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:616042	OTOA	146183	HP:0008568	Vestibular areflexia
OMIM:616042	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:616042	GJA1	2697	HP:0008568	Vestibular areflexia
OMIM:616042	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:616042	MET	4233	HP:0008568	Vestibular areflexia
OMIM:616042	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:616042	CLDN14	23562	HP:0008568	Vestibular areflexia
OMIM:616042	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:616042	HGF	3082	HP:0008568	Vestibular areflexia
OMIM:616042	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:616042	PNPT1	87178	HP:0008568	Vestibular areflexia
OMIM:616042	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:616042	EPS8	2059	HP:0008568	Vestibular areflexia
OMIM:616042	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:616042	MYO3A	53904	HP:0008568	Vestibular areflexia
OMIM:616042	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:616042	DCDC2	51473	HP:0008568	Vestibular areflexia
OMIM:616042	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:616042	GJB2	2706	HP:0008568	Vestibular areflexia
OMIM:616042	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:616042	GJB3	2707	HP:0008568	Vestibular areflexia
OMIM:616042	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:616042	CABP2	51475	HP:0008568	Vestibular areflexia
OMIM:616042	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:616042	GRXCR2	643226	HP:0008568	Vestibular areflexia
OMIM:616042	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:616042	SERPINB6	5269	HP:0008568	Vestibular areflexia
OMIM:616042	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:616042	COL11A2	1302	HP:0008568	Vestibular areflexia
OMIM:616042	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:616042	CIB2	10518	HP:0008568	Vestibular areflexia
OMIM:616042	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:616042	FAM65B	9750	HP:0008568	Vestibular areflexia
OMIM:616042	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:616042	KARS	3735	HP:0008568	Vestibular areflexia
OMIM:616042	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:616042	LOXHD1	125336	HP:0008568	Vestibular areflexia
OMIM:616042	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:616042	TMC1	117531	HP:0008568	Vestibular areflexia
OMIM:616042	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:616042	CLIC5	53405	HP:0008568	Vestibular areflexia
OMIM:616042	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:616042	OTOF	9381	HP:0008568	Vestibular areflexia
OMIM:616042	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:616042	MYO6	4646	HP:0008568	Vestibular areflexia
OMIM:616042	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:616042	TMIE	259236	HP:0008568	Vestibular areflexia
OMIM:616042	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:616042	MYO7A	4647	HP:0008568	Vestibular areflexia
OMIM:616042	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:616042	LRTOMT	220074	HP:0008568	Vestibular areflexia
OMIM:616042	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:616042	OTOGL	283310	HP:0008568	Vestibular areflexia
OMIM:616042	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:616042	TPRN	286262	HP:0008568	Vestibular areflexia
OMIM:616042	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:616042	SLC26A4	5172	HP:0008568	Vestibular areflexia
OMIM:616042	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:616042	GJB6	10804	HP:0008568	Vestibular areflexia
OMIM:616042	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:616042	DFNB59	494513	HP:0008568	Vestibular areflexia
OMIM:616042	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:616042	ESRRB	2103	HP:0008568	Vestibular areflexia
OMIM:616042	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:616042	TMPRSS3	64699	HP:0008568	Vestibular areflexia
OMIM:616042	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:616042	PTPRQ	374462	HP:0008568	Vestibular areflexia
OMIM:616042	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:616042	SLC26A5	375611	HP:0008568	Vestibular areflexia
OMIM:616042	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:616042	PCDH15	65217	HP:0008568	Vestibular areflexia
OMIM:616042	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:616042	TSPEAR	54084	HP:0008568	Vestibular areflexia
OMIM:616042	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:616042	LHFPL5	222662	HP:0008568	Vestibular areflexia
OMIM:616042	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:616042	TRIOBP	11078	HP:0008568	Vestibular areflexia
OMIM:616042	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:616042	CDH23	64072	HP:0008568	Vestibular areflexia
OMIM:616042	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:616042	RDX	5962	HP:0008568	Vestibular areflexia
OMIM:616042	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:616042	GPSM2	29899	HP:0008568	Vestibular areflexia
OMIM:616042	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:616042	ELMOD3	84173	HP:0008568	Vestibular areflexia
OMIM:616042	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:616042	ILDR1	286676	HP:0008568	Vestibular areflexia
OMIM:616042	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:616042	GRXCR1	389207	HP:0008568	Vestibular areflexia
OMIM:616042	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:616042	MARVELD2	153562	HP:0008568	Vestibular areflexia
OMIM:616042	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:616042	STRC	161497	HP:0008568	Vestibular areflexia
OMIM:616042	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:616042	SLITRK6	84189	HP:0008568	Vestibular areflexia
OMIM:616042	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:616042	TECTA	7007	HP:0008568	Vestibular areflexia
OMIM:616042	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:616042	MYO15A	51168	HP:0008568	Vestibular areflexia
OMIM:616042	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:616042	USH1C	10083	HP:0008568	Vestibular areflexia
OMIM:616042	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:616042	ADCY1	107	HP:0008568	Vestibular areflexia
OMIM:616042	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:616042	SYNE4	163183	HP:0008568	Vestibular areflexia
OMIM:616042	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:616042	GIPC3	126326	HP:0008568	Vestibular areflexia
OMIM:616042	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:616042	TBC1D24	57465	HP:0008568	Vestibular areflexia
OMIM:616042	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:616042	OTOG	340990	HP:0008568	Vestibular areflexia
OMIM:616042	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:615268	ATP8A2	51761	HP:0001260	Dysarthria
OMIM:615268	ATP8A2	51761	HP:0002078	Truncal ataxia
OMIM:615268	ATP8A2	51761	HP:0003577	Congenital onset
OMIM:615268	ATP8A2	51761	HP:0001249	Intellectual disability
OMIM:615268	ATP8A2	51761	HP:0001272	Cerebellar atrophy
OMIM:615268	ATP8A2	51761	HP:0000007	Autosomal recessive inheritance
OMIM:615268	ATP8A2	51761	HP:0002059	Cerebral atrophy
OMIM:615268	ATP8A2	51761	HP:0002540	Inability to walk
OMIM:615268	WDR81	124997	HP:0001260	Dysarthria
OMIM:615268	WDR81	124997	HP:0002078	Truncal ataxia
OMIM:615268	WDR81	124997	HP:0003577	Congenital onset
OMIM:615268	WDR81	124997	HP:0001249	Intellectual disability
OMIM:615268	WDR81	124997	HP:0001272	Cerebellar atrophy
OMIM:615268	WDR81	124997	HP:0000007	Autosomal recessive inheritance
OMIM:615268	WDR81	124997	HP:0002059	Cerebral atrophy
OMIM:615268	WDR81	124997	HP:0002540	Inability to walk
OMIM:615268	VLDLR	7436	HP:0001260	Dysarthria
OMIM:615268	VLDLR	7436	HP:0002078	Truncal ataxia
OMIM:615268	VLDLR	7436	HP:0003577	Congenital onset
OMIM:615268	VLDLR	7436	HP:0001249	Intellectual disability
OMIM:615268	VLDLR	7436	HP:0001272	Cerebellar atrophy
OMIM:615268	VLDLR	7436	HP:0000007	Autosomal recessive inheritance
OMIM:615268	VLDLR	7436	HP:0002059	Cerebral atrophy
OMIM:615268	VLDLR	7436	HP:0002540	Inability to walk
OMIM:615268	CA8	767	HP:0001260	Dysarthria
OMIM:615268	CA8	767	HP:0002078	Truncal ataxia
OMIM:615268	CA8	767	HP:0003577	Congenital onset
OMIM:615268	CA8	767	HP:0001249	Intellectual disability
OMIM:615268	CA8	767	HP:0001272	Cerebellar atrophy
OMIM:615268	CA8	767	HP:0000007	Autosomal recessive inheritance
OMIM:615268	CA8	767	HP:0002059	Cerebral atrophy
OMIM:615268	CA8	767	HP:0002540	Inability to walk
OMIM:268060	RLBP1	6017	HP:0000540	Hypermetropia
OMIM:268060	RLBP1	6017	HP:0000580	Pigmentary retinopathy
OMIM:268060	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:268060	RLBP1	6017	HP:0000483	Astigmatism
OMIM:268060	RLBP1	6017	HP:0000486	Strabismus
OMIM:268060	SPATA7	55812	HP:0000540	Hypermetropia
OMIM:268060	SPATA7	55812	HP:0000580	Pigmentary retinopathy
OMIM:268060	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:268060	SPATA7	55812	HP:0000483	Astigmatism
OMIM:268060	SPATA7	55812	HP:0000486	Strabismus
OMIM:268060	ARL6	84100	HP:0000540	Hypermetropia
OMIM:268060	ARL6	84100	HP:0000580	Pigmentary retinopathy
OMIM:268060	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:268060	ARL6	84100	HP:0000483	Astigmatism
OMIM:268060	ARL6	84100	HP:0000486	Strabismus
OMIM:268060	CERKL	375298	HP:0000540	Hypermetropia
OMIM:268060	CERKL	375298	HP:0000580	Pigmentary retinopathy
OMIM:268060	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:268060	CERKL	375298	HP:0000483	Astigmatism
OMIM:268060	CERKL	375298	HP:0000486	Strabismus
OMIM:268060	PRPF31	26121	HP:0000540	Hypermetropia
OMIM:268060	PRPF31	26121	HP:0000580	Pigmentary retinopathy
OMIM:268060	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:268060	PRPF31	26121	HP:0000483	Astigmatism
OMIM:268060	PRPF31	26121	HP:0000486	Strabismus
OMIM:268060	TTC8	123016	HP:0000540	Hypermetropia
OMIM:268060	TTC8	123016	HP:0000580	Pigmentary retinopathy
OMIM:268060	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:268060	TTC8	123016	HP:0000483	Astigmatism
OMIM:268060	TTC8	123016	HP:0000486	Strabismus
OMIM:268060	PROM1	8842	HP:0000540	Hypermetropia
OMIM:268060	PROM1	8842	HP:0000580	Pigmentary retinopathy
OMIM:268060	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:268060	PROM1	8842	HP:0000483	Astigmatism
OMIM:268060	PROM1	8842	HP:0000486	Strabismus
OMIM:268060	LRAT	9227	HP:0000540	Hypermetropia
OMIM:268060	LRAT	9227	HP:0000580	Pigmentary retinopathy
OMIM:268060	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:268060	LRAT	9227	HP:0000483	Astigmatism
OMIM:268060	LRAT	9227	HP:0000486	Strabismus
OMIM:268060	IFT140	9742	HP:0000540	Hypermetropia
OMIM:268060	IFT140	9742	HP:0000580	Pigmentary retinopathy
OMIM:268060	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:268060	IFT140	9742	HP:0000483	Astigmatism
OMIM:268060	IFT140	9742	HP:0000486	Strabismus
OMIM:268060	BEST1	7439	HP:0000540	Hypermetropia
OMIM:268060	BEST1	7439	HP:0000580	Pigmentary retinopathy
OMIM:268060	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:268060	BEST1	7439	HP:0000483	Astigmatism
OMIM:268060	BEST1	7439	HP:0000486	Strabismus
OMIM:268060	NEK2	4751	HP:0000540	Hypermetropia
OMIM:268060	NEK2	4751	HP:0000580	Pigmentary retinopathy
OMIM:268060	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:268060	NEK2	4751	HP:0000483	Astigmatism
OMIM:268060	NEK2	4751	HP:0000486	Strabismus
OMIM:268060	ARL2BP	23568	HP:0000540	Hypermetropia
OMIM:268060	ARL2BP	23568	HP:0000580	Pigmentary retinopathy
OMIM:268060	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:268060	ARL2BP	23568	HP:0000483	Astigmatism
OMIM:268060	ARL2BP	23568	HP:0000486	Strabismus
OMIM:268060	NR2E3	10002	HP:0000540	Hypermetropia
OMIM:268060	NR2E3	10002	HP:0000580	Pigmentary retinopathy
OMIM:268060	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:268060	NR2E3	10002	HP:0000483	Astigmatism
OMIM:268060	NR2E3	10002	HP:0000486	Strabismus
OMIM:268060	EYS	346007	HP:0000540	Hypermetropia
OMIM:268060	EYS	346007	HP:0000580	Pigmentary retinopathy
OMIM:268060	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:268060	EYS	346007	HP:0000483	Astigmatism
OMIM:268060	EYS	346007	HP:0000486	Strabismus
OMIM:268060	MAK	4117	HP:0000540	Hypermetropia
OMIM:268060	MAK	4117	HP:0000580	Pigmentary retinopathy
OMIM:268060	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:268060	MAK	4117	HP:0000483	Astigmatism
OMIM:268060	MAK	4117	HP:0000486	Strabismus
OMIM:268060	SAG	6295	HP:0000540	Hypermetropia
OMIM:268060	SAG	6295	HP:0000580	Pigmentary retinopathy
OMIM:268060	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:268060	SAG	6295	HP:0000483	Astigmatism
OMIM:268060	SAG	6295	HP:0000486	Strabismus
OMIM:268060	ABCA4	24	HP:0000540	Hypermetropia
OMIM:268060	ABCA4	24	HP:0000580	Pigmentary retinopathy
OMIM:268060	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:268060	ABCA4	24	HP:0000483	Astigmatism
OMIM:268060	ABCA4	24	HP:0000486	Strabismus
OMIM:268060	PDE6A	5145	HP:0000540	Hypermetropia
OMIM:268060	PDE6A	5145	HP:0000580	Pigmentary retinopathy
OMIM:268060	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:268060	PDE6A	5145	HP:0000483	Astigmatism
OMIM:268060	PDE6A	5145	HP:0000486	Strabismus
OMIM:268060	PDE6G	5148	HP:0000540	Hypermetropia
OMIM:268060	PDE6G	5148	HP:0000580	Pigmentary retinopathy
OMIM:268060	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:268060	PDE6G	5148	HP:0000483	Astigmatism
OMIM:268060	PDE6G	5148	HP:0000486	Strabismus
OMIM:268060	IMPDH1	3614	HP:0000540	Hypermetropia
OMIM:268060	IMPDH1	3614	HP:0000580	Pigmentary retinopathy
OMIM:268060	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:268060	IMPDH1	3614	HP:0000483	Astigmatism
OMIM:268060	IMPDH1	3614	HP:0000486	Strabismus
OMIM:268060	OFD1	8481	HP:0000540	Hypermetropia
OMIM:268060	OFD1	8481	HP:0000580	Pigmentary retinopathy
OMIM:268060	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:268060	OFD1	8481	HP:0000483	Astigmatism
OMIM:268060	OFD1	8481	HP:0000486	Strabismus
OMIM:268060	GUCA1B	2979	HP:0000540	Hypermetropia
OMIM:268060	GUCA1B	2979	HP:0000580	Pigmentary retinopathy
OMIM:268060	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:268060	GUCA1B	2979	HP:0000483	Astigmatism
OMIM:268060	GUCA1B	2979	HP:0000486	Strabismus
OMIM:268060	NRL	4901	HP:0000540	Hypermetropia
OMIM:268060	NRL	4901	HP:0000580	Pigmentary retinopathy
OMIM:268060	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:268060	NRL	4901	HP:0000483	Astigmatism
OMIM:268060	NRL	4901	HP:0000486	Strabismus
OMIM:268060	PDE6B	5158	HP:0000540	Hypermetropia
OMIM:268060	PDE6B	5158	HP:0000580	Pigmentary retinopathy
OMIM:268060	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:268060	PDE6B	5158	HP:0000483	Astigmatism
OMIM:268060	PDE6B	5158	HP:0000486	Strabismus
OMIM:268060	KLHL7	55975	HP:0000540	Hypermetropia
OMIM:268060	KLHL7	55975	HP:0000580	Pigmentary retinopathy
OMIM:268060	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:268060	KLHL7	55975	HP:0000483	Astigmatism
OMIM:268060	KLHL7	55975	HP:0000486	Strabismus
OMIM:268060	PRPF4	9128	HP:0000540	Hypermetropia
OMIM:268060	PRPF4	9128	HP:0000580	Pigmentary retinopathy
OMIM:268060	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:268060	PRPF4	9128	HP:0000483	Astigmatism
OMIM:268060	PRPF4	9128	HP:0000486	Strabismus
OMIM:268060	PRPF3	9129	HP:0000540	Hypermetropia
OMIM:268060	PRPF3	9129	HP:0000580	Pigmentary retinopathy
OMIM:268060	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:268060	PRPF3	9129	HP:0000483	Astigmatism
OMIM:268060	PRPF3	9129	HP:0000486	Strabismus
OMIM:268060	FAM161A	84140	HP:0000540	Hypermetropia
OMIM:268060	FAM161A	84140	HP:0000580	Pigmentary retinopathy
OMIM:268060	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:268060	FAM161A	84140	HP:0000483	Astigmatism
OMIM:268060	FAM161A	84140	HP:0000486	Strabismus
OMIM:268060	IFT172	26160	HP:0000540	Hypermetropia
OMIM:268060	IFT172	26160	HP:0000580	Pigmentary retinopathy
OMIM:268060	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:268060	IFT172	26160	HP:0000483	Astigmatism
OMIM:268060	IFT172	26160	HP:0000486	Strabismus
OMIM:268060	KIZ	55857	HP:0000540	Hypermetropia
OMIM:268060	KIZ	55857	HP:0000580	Pigmentary retinopathy
OMIM:268060	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:268060	KIZ	55857	HP:0000483	Astigmatism
OMIM:268060	KIZ	55857	HP:0000486	Strabismus
OMIM:268060	CDHR1	92211	HP:0000540	Hypermetropia
OMIM:268060	CDHR1	92211	HP:0000580	Pigmentary retinopathy
OMIM:268060	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:268060	CDHR1	92211	HP:0000483	Astigmatism
OMIM:268060	CDHR1	92211	HP:0000486	Strabismus
OMIM:268060	ZNF408	79797	HP:0000540	Hypermetropia
OMIM:268060	ZNF408	79797	HP:0000580	Pigmentary retinopathy
OMIM:268060	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:268060	ZNF408	79797	HP:0000483	Astigmatism
OMIM:268060	ZNF408	79797	HP:0000486	Strabismus
OMIM:268060	RBP3	5949	HP:0000540	Hypermetropia
OMIM:268060	RBP3	5949	HP:0000580	Pigmentary retinopathy
OMIM:268060	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:268060	RBP3	5949	HP:0000483	Astigmatism
OMIM:268060	RBP3	5949	HP:0000486	Strabismus
OMIM:268060	HGSNAT	138050	HP:0000540	Hypermetropia
OMIM:268060	HGSNAT	138050	HP:0000580	Pigmentary retinopathy
OMIM:268060	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:268060	HGSNAT	138050	HP:0000483	Astigmatism
OMIM:268060	HGSNAT	138050	HP:0000486	Strabismus
OMIM:268060	FSCN2	25794	HP:0000540	Hypermetropia
OMIM:268060	FSCN2	25794	HP:0000580	Pigmentary retinopathy
OMIM:268060	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:268060	FSCN2	25794	HP:0000483	Astigmatism
OMIM:268060	FSCN2	25794	HP:0000486	Strabismus
OMIM:268060	PRCD	768206	HP:0000540	Hypermetropia
OMIM:268060	PRCD	768206	HP:0000580	Pigmentary retinopathy
OMIM:268060	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:268060	PRCD	768206	HP:0000483	Astigmatism
OMIM:268060	PRCD	768206	HP:0000486	Strabismus
OMIM:268060	BBS2	583	HP:0000540	Hypermetropia
OMIM:268060	BBS2	583	HP:0000580	Pigmentary retinopathy
OMIM:268060	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:268060	BBS2	583	HP:0000483	Astigmatism
OMIM:268060	BBS2	583	HP:0000486	Strabismus
OMIM:268060	RDH12	145226	HP:0000540	Hypermetropia
OMIM:268060	RDH12	145226	HP:0000580	Pigmentary retinopathy
OMIM:268060	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:268060	RDH12	145226	HP:0000483	Astigmatism
OMIM:268060	RDH12	145226	HP:0000486	Strabismus
OMIM:268060	PRPH2	5961	HP:0000540	Hypermetropia
OMIM:268060	PRPH2	5961	HP:0000580	Pigmentary retinopathy
OMIM:268060	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:268060	PRPH2	5961	HP:0000483	Astigmatism
OMIM:268060	PRPH2	5961	HP:0000486	Strabismus
OMIM:268060	DHDDS	79947	HP:0000540	Hypermetropia
OMIM:268060	DHDDS	79947	HP:0000580	Pigmentary retinopathy
OMIM:268060	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:268060	DHDDS	79947	HP:0000483	Astigmatism
OMIM:268060	DHDDS	79947	HP:0000486	Strabismus
OMIM:268060	ROM1	6094	HP:0000540	Hypermetropia
OMIM:268060	ROM1	6094	HP:0000580	Pigmentary retinopathy
OMIM:268060	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:268060	ROM1	6094	HP:0000483	Astigmatism
OMIM:268060	ROM1	6094	HP:0000486	Strabismus
OMIM:268060	C2ORF71	388939	HP:0000540	Hypermetropia
OMIM:268060	C2ORF71	388939	HP:0000580	Pigmentary retinopathy
OMIM:268060	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:268060	C2ORF71	388939	HP:0000483	Astigmatism
OMIM:268060	C2ORF71	388939	HP:0000486	Strabismus
OMIM:268060	RP9	6100	HP:0000540	Hypermetropia
OMIM:268060	RP9	6100	HP:0000580	Pigmentary retinopathy
OMIM:268060	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:268060	RP9	6100	HP:0000483	Astigmatism
OMIM:268060	RP9	6100	HP:0000486	Strabismus
OMIM:268060	PRPF6	24148	HP:0000540	Hypermetropia
OMIM:268060	PRPF6	24148	HP:0000580	Pigmentary retinopathy
OMIM:268060	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:268060	PRPF6	24148	HP:0000483	Astigmatism
OMIM:268060	PRPF6	24148	HP:0000486	Strabismus
OMIM:268060	RP1	6101	HP:0000540	Hypermetropia
OMIM:268060	RP1	6101	HP:0000580	Pigmentary retinopathy
OMIM:268060	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:268060	RP1	6101	HP:0000483	Astigmatism
OMIM:268060	RP1	6101	HP:0000486	Strabismus
OMIM:268060	RP2	6102	HP:0000540	Hypermetropia
OMIM:268060	RP2	6102	HP:0000580	Pigmentary retinopathy
OMIM:268060	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:268060	RP2	6102	HP:0000483	Astigmatism
OMIM:268060	RP2	6102	HP:0000486	Strabismus
OMIM:268060	RPGR	6103	HP:0000540	Hypermetropia
OMIM:268060	RPGR	6103	HP:0000580	Pigmentary retinopathy
OMIM:268060	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:268060	RPGR	6103	HP:0000483	Astigmatism
OMIM:268060	RPGR	6103	HP:0000486	Strabismus
OMIM:268060	SEMA4A	64218	HP:0000540	Hypermetropia
OMIM:268060	SEMA4A	64218	HP:0000580	Pigmentary retinopathy
OMIM:268060	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:268060	SEMA4A	64218	HP:0000483	Astigmatism
OMIM:268060	SEMA4A	64218	HP:0000486	Strabismus
OMIM:268060	C8ORF37	157657	HP:0000540	Hypermetropia
OMIM:268060	C8ORF37	157657	HP:0000580	Pigmentary retinopathy
OMIM:268060	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:268060	C8ORF37	157657	HP:0000483	Astigmatism
OMIM:268060	C8ORF37	157657	HP:0000486	Strabismus
OMIM:268060	IDH3B	3420	HP:0000540	Hypermetropia
OMIM:268060	IDH3B	3420	HP:0000580	Pigmentary retinopathy
OMIM:268060	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:268060	IDH3B	3420	HP:0000483	Astigmatism
OMIM:268060	IDH3B	3420	HP:0000486	Strabismus
OMIM:268060	MERTK	10461	HP:0000540	Hypermetropia
OMIM:268060	MERTK	10461	HP:0000580	Pigmentary retinopathy
OMIM:268060	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:268060	MERTK	10461	HP:0000483	Astigmatism
OMIM:268060	MERTK	10461	HP:0000486	Strabismus
OMIM:268060	PRPF8	10594	HP:0000540	Hypermetropia
OMIM:268060	PRPF8	10594	HP:0000580	Pigmentary retinopathy
OMIM:268060	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:268060	PRPF8	10594	HP:0000483	Astigmatism
OMIM:268060	PRPF8	10594	HP:0000486	Strabismus
OMIM:268060	TOPORS	10210	HP:0000540	Hypermetropia
OMIM:268060	TOPORS	10210	HP:0000580	Pigmentary retinopathy
OMIM:268060	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:268060	TOPORS	10210	HP:0000483	Astigmatism
OMIM:268060	TOPORS	10210	HP:0000486	Strabismus
OMIM:268060	USH2A	7399	HP:0000540	Hypermetropia
OMIM:268060	USH2A	7399	HP:0000580	Pigmentary retinopathy
OMIM:268060	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:268060	USH2A	7399	HP:0000483	Astigmatism
OMIM:268060	USH2A	7399	HP:0000486	Strabismus
OMIM:268060	RPE65	6121	HP:0000540	Hypermetropia
OMIM:268060	RPE65	6121	HP:0000580	Pigmentary retinopathy
OMIM:268060	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:268060	RPE65	6121	HP:0000483	Astigmatism
OMIM:268060	RPE65	6121	HP:0000486	Strabismus
OMIM:268060	CLRN1	7401	HP:0000540	Hypermetropia
OMIM:268060	CLRN1	7401	HP:0000580	Pigmentary retinopathy
OMIM:268060	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:268060	CLRN1	7401	HP:0000483	Astigmatism
OMIM:268060	CLRN1	7401	HP:0000486	Strabismus
OMIM:268060	CNGB1	1258	HP:0000540	Hypermetropia
OMIM:268060	CNGB1	1258	HP:0000580	Pigmentary retinopathy
OMIM:268060	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:268060	CNGB1	1258	HP:0000483	Astigmatism
OMIM:268060	CNGB1	1258	HP:0000486	Strabismus
OMIM:268060	RGR	5995	HP:0000540	Hypermetropia
OMIM:268060	RGR	5995	HP:0000580	Pigmentary retinopathy
OMIM:268060	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:268060	RGR	5995	HP:0000483	Astigmatism
OMIM:268060	RGR	5995	HP:0000486	Strabismus
OMIM:268060	CNGA1	1259	HP:0000540	Hypermetropia
OMIM:268060	CNGA1	1259	HP:0000580	Pigmentary retinopathy
OMIM:268060	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:268060	CNGA1	1259	HP:0000483	Astigmatism
OMIM:268060	CNGA1	1259	HP:0000486	Strabismus
OMIM:268060	TUB	7275	HP:0000540	Hypermetropia
OMIM:268060	TUB	7275	HP:0000580	Pigmentary retinopathy
OMIM:268060	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:268060	TUB	7275	HP:0000483	Astigmatism
OMIM:268060	TUB	7275	HP:0000486	Strabismus
OMIM:268060	SNRNP200	23020	HP:0000540	Hypermetropia
OMIM:268060	SNRNP200	23020	HP:0000580	Pigmentary retinopathy
OMIM:268060	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:268060	SNRNP200	23020	HP:0000483	Astigmatism
OMIM:268060	SNRNP200	23020	HP:0000486	Strabismus
OMIM:268060	SLC7A14	57709	HP:0000540	Hypermetropia
OMIM:268060	SLC7A14	57709	HP:0000580	Pigmentary retinopathy
OMIM:268060	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:268060	SLC7A14	57709	HP:0000483	Astigmatism
OMIM:268060	SLC7A14	57709	HP:0000486	Strabismus
OMIM:268060	TULP1	7287	HP:0000540	Hypermetropia
OMIM:268060	TULP1	7287	HP:0000580	Pigmentary retinopathy
OMIM:268060	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:268060	TULP1	7287	HP:0000483	Astigmatism
OMIM:268060	TULP1	7287	HP:0000486	Strabismus
OMIM:268060	RHO	6010	HP:0000540	Hypermetropia
OMIM:268060	RHO	6010	HP:0000580	Pigmentary retinopathy
OMIM:268060	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:268060	RHO	6010	HP:0000483	Astigmatism
OMIM:268060	RHO	6010	HP:0000486	Strabismus
OMIM:268060	CA4	762	HP:0000540	Hypermetropia
OMIM:268060	CA4	762	HP:0000580	Pigmentary retinopathy
OMIM:268060	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:268060	CA4	762	HP:0000483	Astigmatism
OMIM:268060	CA4	762	HP:0000486	Strabismus
OMIM:268060	CRB1	23418	HP:0000540	Hypermetropia
OMIM:268060	CRB1	23418	HP:0000580	Pigmentary retinopathy
OMIM:268060	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:268060	CRB1	23418	HP:0000483	Astigmatism
OMIM:268060	CRB1	23418	HP:0000486	Strabismus
OMIM:268060	IMPG2	50939	HP:0000540	Hypermetropia
OMIM:268060	IMPG2	50939	HP:0000580	Pigmentary retinopathy
OMIM:268060	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:268060	IMPG2	50939	HP:0000483	Astigmatism
OMIM:268060	IMPG2	50939	HP:0000486	Strabismus
OMIM:268060	ZNF513	130557	HP:0000540	Hypermetropia
OMIM:268060	ZNF513	130557	HP:0000580	Pigmentary retinopathy
OMIM:268060	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:268060	ZNF513	130557	HP:0000483	Astigmatism
OMIM:268060	ZNF513	130557	HP:0000486	Strabismus
OMIM:268060	CRX	1406	HP:0000540	Hypermetropia
OMIM:268060	CRX	1406	HP:0000580	Pigmentary retinopathy
OMIM:268060	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:268060	CRX	1406	HP:0000483	Astigmatism
OMIM:268060	CRX	1406	HP:0000486	Strabismus
OMIM:615966	PRKDC	5591	HP:0001250	Seizures
OMIM:615966	PRKDC	5591	HP:0011220	Prominent forehead
OMIM:615966	PRKDC	5591	HP:0000407	Sensorineural hearing impairment
OMIM:615966	PRKDC	5591	HP:0000505	Visual impairment
OMIM:615966	PRKDC	5591	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615966	PRKDC	5591	HP:0000219	Thin upper lip vermilion
OMIM:615966	PRKDC	5591	HP:0000054	Micropenis
OMIM:615966	PRKDC	5591	HP:0004430	Severe combined immunodeficiency
OMIM:615966	PRKDC	5591	HP:0012444	Brain atrophy
OMIM:615966	PRKDC	5591	HP:0009879	Cortical gyral simplification
OMIM:615966	PRKDC	5591	HP:0000490	Deeply set eye
OMIM:615966	PRKDC	5591	HP:0002783	Recurrent lower respiratory tract infections
OMIM:615966	PRKDC	5591	HP:0000331	Short chin
OMIM:615966	PRKDC	5591	HP:0000431	Wide nasal bridge
OMIM:615966	PRKDC	5591	HP:0000252	Microcephaly
OMIM:615966	PRKDC	5591	HP:0001320	Cerebellar vermis hypoplasia
OMIM:615966	PRKDC	5591	HP:0001511	Intrauterine growth retardation
OMIM:615966	PRKDC	5591	HP:0011107	Recurrent aphthous stomatitis
OMIM:615966	PRKDC	5591	HP:0000343	Long philtrum
OMIM:615966	PRKDC	5591	HP:0003429	CNS hypomyelination
OMIM:615966	PRKDC	5591	HP:0001302	Pachygyria
OMIM:615966	PRKDC	5591	HP:0000369	Low-set ears
OMIM:264700	CYP2R1	120227	HP:0001538	Protuberant abdomen
OMIM:264700	CYP2R1	120227	HP:0002007	Frontal bossing
OMIM:264700	CYP2R1	120227	HP:0002980	Femoral bowing
OMIM:264700	CYP2R1	120227	HP:0002663	Delayed epiphyseal ossification
OMIM:264700	CYP2R1	120227	HP:0002982	Tibial bowing
OMIM:264700	CYP2R1	120227	HP:0003025	Metaphyseal irregularity
OMIM:264700	CYP2R1	120227	HP:0005469	Flat occiput
OMIM:264700	CYP2R1	120227	HP:0001252	Muscular hypotonia
OMIM:264700	CYP2R1	120227	HP:0000737	Irritability
OMIM:264700	CYP2R1	120227	HP:0000007	Autosomal recessive inheritance
OMIM:264700	CYP2R1	120227	HP:0001270	Motor delay
OMIM:264700	CYP2R1	120227	HP:0002148	Hypophosphatemia
OMIM:264700	CYP2R1	120227	HP:0001510	Growth delay
OMIM:264700	CYP2R1	120227	HP:0002979	Bowing of the legs
OMIM:264700	CYP2R1	120227	HP:0004492	Widely patent fontanelles and sutures
OMIM:264700	CYP2R1	120227	HP:0002653	Bone pain
OMIM:264700	CYP2R1	120227	HP:0002355	Difficulty walking
OMIM:264700	CYP2R1	120227	HP:0002757	Recurrent fractures
OMIM:264700	CYP2R1	120227	HP:0000920	Enlargement of the costochondral junction
OMIM:264700	CYP2R1	120227	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:264700	CYP2R1	120227	HP:0000684	Delayed eruption of teeth
OMIM:264700	CYP2R1	120227	HP:0006297	Hypoplasia of dental enamel
OMIM:264700	CYP2R1	120227	HP:0001508	Failure to thrive
OMIM:264700	CYP27B1	1594	HP:0001538	Protuberant abdomen
OMIM:264700	CYP27B1	1594	HP:0002007	Frontal bossing
OMIM:264700	CYP27B1	1594	HP:0002980	Femoral bowing
OMIM:264700	CYP27B1	1594	HP:0002663	Delayed epiphyseal ossification
OMIM:264700	CYP27B1	1594	HP:0002982	Tibial bowing
OMIM:264700	CYP27B1	1594	HP:0003025	Metaphyseal irregularity
OMIM:264700	CYP27B1	1594	HP:0005469	Flat occiput
OMIM:264700	CYP27B1	1594	HP:0001252	Muscular hypotonia
OMIM:264700	CYP27B1	1594	HP:0000737	Irritability
OMIM:264700	CYP27B1	1594	HP:0000007	Autosomal recessive inheritance
OMIM:264700	CYP27B1	1594	HP:0001270	Motor delay
OMIM:264700	CYP27B1	1594	HP:0002148	Hypophosphatemia
OMIM:264700	CYP27B1	1594	HP:0001510	Growth delay
OMIM:264700	CYP27B1	1594	HP:0002979	Bowing of the legs
OMIM:264700	CYP27B1	1594	HP:0004492	Widely patent fontanelles and sutures
OMIM:264700	CYP27B1	1594	HP:0002653	Bone pain
OMIM:264700	CYP27B1	1594	HP:0002355	Difficulty walking
OMIM:264700	CYP27B1	1594	HP:0002757	Recurrent fractures
OMIM:264700	CYP27B1	1594	HP:0000920	Enlargement of the costochondral junction
OMIM:264700	CYP27B1	1594	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:264700	CYP27B1	1594	HP:0000684	Delayed eruption of teeth
OMIM:264700	CYP27B1	1594	HP:0006297	Hypoplasia of dental enamel
OMIM:264700	CYP27B1	1594	HP:0001508	Failure to thrive
OMIM:603553	STX11	8676	HP:0000737	Irritability
OMIM:603553	STX11	8676	HP:0003073	Hypoalbuminemia
OMIM:603553	STX11	8676	HP:0002716	Lymphadenopathy
OMIM:603553	STX11	8676	HP:0012229	CSF pleocytosis
OMIM:603553	STX11	8676	HP:0001287	Meningitis
OMIM:603553	STX11	8676	HP:0002383	Encephalitis
OMIM:603553	STX11	8676	HP:0001903	Anemia
OMIM:603553	STX11	8676	HP:0001251	Ataxia
OMIM:603553	STX11	8676	HP:0003075	Hypoproteinemia
OMIM:603553	STX11	8676	HP:0000952	Jaundice
OMIM:603553	STX11	8676	HP:0001276	Hypertonia
OMIM:603553	STX11	8676	HP:0001508	Failure to thrive
OMIM:603553	STX11	8676	HP:0002922	Increased CSF protein
OMIM:603553	STX11	8676	HP:0001250	Seizures
OMIM:603553	STX11	8676	HP:0002240	Hepatomegaly
OMIM:603553	STX11	8676	HP:0002445	Tetraplegia
OMIM:603553	STX11	8676	HP:0001252	Muscular hypotonia
OMIM:603553	STX11	8676	HP:0001882	Leukopenia
OMIM:603553	STX11	8676	HP:0001744	Splenomegaly
OMIM:603553	STX11	8676	HP:0000007	Autosomal recessive inheritance
OMIM:603553	STX11	8676	HP:0002155	Hypertriglyceridemia
OMIM:603553	STX11	8676	HP:0001259	Coma
OMIM:603553	STX11	8676	HP:0001263	Global developmental delay
OMIM:603553	STX11	8676	HP:0001873	Thrombocytopenia
OMIM:603553	UNC13D	201294	HP:0000737	Irritability
OMIM:603553	UNC13D	201294	HP:0003073	Hypoalbuminemia
OMIM:603553	UNC13D	201294	HP:0002716	Lymphadenopathy
OMIM:603553	UNC13D	201294	HP:0012229	CSF pleocytosis
OMIM:603553	UNC13D	201294	HP:0001287	Meningitis
OMIM:603553	UNC13D	201294	HP:0002383	Encephalitis
OMIM:603553	UNC13D	201294	HP:0001903	Anemia
OMIM:603553	UNC13D	201294	HP:0001251	Ataxia
OMIM:603553	UNC13D	201294	HP:0003075	Hypoproteinemia
OMIM:603553	UNC13D	201294	HP:0000952	Jaundice
OMIM:603553	UNC13D	201294	HP:0001276	Hypertonia
OMIM:603553	UNC13D	201294	HP:0001508	Failure to thrive
OMIM:603553	UNC13D	201294	HP:0002922	Increased CSF protein
OMIM:603553	UNC13D	201294	HP:0001250	Seizures
OMIM:603553	UNC13D	201294	HP:0002240	Hepatomegaly
OMIM:603553	UNC13D	201294	HP:0002445	Tetraplegia
OMIM:603553	UNC13D	201294	HP:0001252	Muscular hypotonia
OMIM:603553	UNC13D	201294	HP:0001882	Leukopenia
OMIM:603553	UNC13D	201294	HP:0001744	Splenomegaly
OMIM:603553	UNC13D	201294	HP:0000007	Autosomal recessive inheritance
OMIM:603553	UNC13D	201294	HP:0002155	Hypertriglyceridemia
OMIM:603553	UNC13D	201294	HP:0001259	Coma
OMIM:603553	UNC13D	201294	HP:0001263	Global developmental delay
OMIM:603553	UNC13D	201294	HP:0001873	Thrombocytopenia
OMIM:603553	STXBP2	6813	HP:0000737	Irritability
OMIM:603553	STXBP2	6813	HP:0003073	Hypoalbuminemia
OMIM:603553	STXBP2	6813	HP:0002716	Lymphadenopathy
OMIM:603553	STXBP2	6813	HP:0012229	CSF pleocytosis
OMIM:603553	STXBP2	6813	HP:0001287	Meningitis
OMIM:603553	STXBP2	6813	HP:0002383	Encephalitis
OMIM:603553	STXBP2	6813	HP:0001903	Anemia
OMIM:603553	STXBP2	6813	HP:0001251	Ataxia
OMIM:603553	STXBP2	6813	HP:0003075	Hypoproteinemia
OMIM:603553	STXBP2	6813	HP:0000952	Jaundice
OMIM:603553	STXBP2	6813	HP:0001276	Hypertonia
OMIM:603553	STXBP2	6813	HP:0001508	Failure to thrive
OMIM:603553	STXBP2	6813	HP:0002922	Increased CSF protein
OMIM:603553	STXBP2	6813	HP:0001250	Seizures
OMIM:603553	STXBP2	6813	HP:0002240	Hepatomegaly
OMIM:603553	STXBP2	6813	HP:0002445	Tetraplegia
OMIM:603553	STXBP2	6813	HP:0001252	Muscular hypotonia
OMIM:603553	STXBP2	6813	HP:0001882	Leukopenia
OMIM:603553	STXBP2	6813	HP:0001744	Splenomegaly
OMIM:603553	STXBP2	6813	HP:0000007	Autosomal recessive inheritance
OMIM:603553	STXBP2	6813	HP:0002155	Hypertriglyceridemia
OMIM:603553	STXBP2	6813	HP:0001259	Coma
OMIM:603553	STXBP2	6813	HP:0001263	Global developmental delay
OMIM:603553	STXBP2	6813	HP:0001873	Thrombocytopenia
OMIM:603553	PRF1	5551	HP:0000737	Irritability
OMIM:603553	PRF1	5551	HP:0003073	Hypoalbuminemia
OMIM:603553	PRF1	5551	HP:0002716	Lymphadenopathy
OMIM:603553	PRF1	5551	HP:0012229	CSF pleocytosis
OMIM:603553	PRF1	5551	HP:0001287	Meningitis
OMIM:603553	PRF1	5551	HP:0002383	Encephalitis
OMIM:603553	PRF1	5551	HP:0001903	Anemia
OMIM:603553	PRF1	5551	HP:0001251	Ataxia
OMIM:603553	PRF1	5551	HP:0003075	Hypoproteinemia
OMIM:603553	PRF1	5551	HP:0000952	Jaundice
OMIM:603553	PRF1	5551	HP:0001276	Hypertonia
OMIM:603553	PRF1	5551	HP:0001508	Failure to thrive
OMIM:603553	PRF1	5551	HP:0002922	Increased CSF protein
OMIM:603553	PRF1	5551	HP:0001250	Seizures
OMIM:603553	PRF1	5551	HP:0002240	Hepatomegaly
OMIM:603553	PRF1	5551	HP:0002445	Tetraplegia
OMIM:603553	PRF1	5551	HP:0001252	Muscular hypotonia
OMIM:603553	PRF1	5551	HP:0001882	Leukopenia
OMIM:603553	PRF1	5551	HP:0001744	Splenomegaly
OMIM:603553	PRF1	5551	HP:0000007	Autosomal recessive inheritance
OMIM:603553	PRF1	5551	HP:0002155	Hypertriglyceridemia
OMIM:603553	PRF1	5551	HP:0001259	Coma
OMIM:603553	PRF1	5551	HP:0001263	Global developmental delay
OMIM:603553	PRF1	5551	HP:0001873	Thrombocytopenia
OMIM:614181	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:614181	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:614181	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:614181	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:614181	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:614181	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:614181	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:614181	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:614181	ARL6	84100	HP:0000662	Nyctalopia
OMIM:614181	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:614181	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:614181	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:614181	CERKL	375298	HP:0000662	Nyctalopia
OMIM:614181	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:614181	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:614181	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:614181	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:614181	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:614181	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:614181	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:614181	TTC8	123016	HP:0000662	Nyctalopia
OMIM:614181	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:614181	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:614181	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:614181	PROM1	8842	HP:0000662	Nyctalopia
OMIM:614181	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:614181	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:614181	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:614181	LRAT	9227	HP:0000662	Nyctalopia
OMIM:614181	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:614181	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:614181	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:614181	IFT140	9742	HP:0000662	Nyctalopia
OMIM:614181	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:614181	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:614181	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:614181	BEST1	7439	HP:0000662	Nyctalopia
OMIM:614181	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:614181	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:614181	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:614181	NEK2	4751	HP:0000662	Nyctalopia
OMIM:614181	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:614181	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:614181	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:614181	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:614181	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:614181	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:614181	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:614181	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:614181	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:614181	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:614181	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:614181	EYS	346007	HP:0000662	Nyctalopia
OMIM:614181	EYS	346007	HP:0000543	Optic disc pallor
OMIM:614181	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:614181	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:614181	MAK	4117	HP:0000662	Nyctalopia
OMIM:614181	MAK	4117	HP:0000543	Optic disc pallor
OMIM:614181	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:614181	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:614181	SAG	6295	HP:0000662	Nyctalopia
OMIM:614181	SAG	6295	HP:0000543	Optic disc pallor
OMIM:614181	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:614181	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:614181	ABCA4	24	HP:0000662	Nyctalopia
OMIM:614181	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:614181	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:614181	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:614181	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:614181	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:614181	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:614181	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:614181	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:614181	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:614181	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:614181	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:614181	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:614181	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:614181	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:614181	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:614181	OFD1	8481	HP:0000662	Nyctalopia
OMIM:614181	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:614181	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:614181	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:614181	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:614181	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:614181	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:614181	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:614181	NRL	4901	HP:0000662	Nyctalopia
OMIM:614181	NRL	4901	HP:0000543	Optic disc pallor
OMIM:614181	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:614181	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:614181	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:614181	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:614181	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:614181	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:614181	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:614181	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:614181	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:614181	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:614181	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:614181	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:614181	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:614181	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:614181	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:614181	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:614181	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:614181	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:614181	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:614181	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:614181	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:614181	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:614181	IFT172	26160	HP:0000662	Nyctalopia
OMIM:614181	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:614181	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:614181	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:614181	KIZ	55857	HP:0000662	Nyctalopia
OMIM:614181	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:614181	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:614181	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:614181	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:614181	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:614181	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:614181	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:614181	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:614181	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:614181	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:614181	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:614181	RBP3	5949	HP:0000662	Nyctalopia
OMIM:614181	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:614181	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:614181	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:614181	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:614181	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:614181	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:614181	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:614181	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:614181	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:614181	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:614181	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:614181	PRCD	768206	HP:0000662	Nyctalopia
OMIM:614181	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:614181	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:614181	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:614181	BBS2	583	HP:0000662	Nyctalopia
OMIM:614181	BBS2	583	HP:0000543	Optic disc pallor
OMIM:614181	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:614181	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:614181	RDH12	145226	HP:0000662	Nyctalopia
OMIM:614181	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:614181	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:614181	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:614181	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:614181	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:614181	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:614181	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:614181	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:614181	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:614181	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:614181	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:614181	ROM1	6094	HP:0000662	Nyctalopia
OMIM:614181	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:614181	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:614181	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:614181	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:614181	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:614181	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:614181	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:614181	RP9	6100	HP:0000662	Nyctalopia
OMIM:614181	RP9	6100	HP:0000543	Optic disc pallor
OMIM:614181	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:614181	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:614181	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:614181	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:614181	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:614181	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:614181	RP1	6101	HP:0000662	Nyctalopia
OMIM:614181	RP1	6101	HP:0000543	Optic disc pallor
OMIM:614181	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:614181	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:614181	RP2	6102	HP:0000662	Nyctalopia
OMIM:614181	RP2	6102	HP:0000543	Optic disc pallor
OMIM:614181	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:614181	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:614181	RPGR	6103	HP:0000662	Nyctalopia
OMIM:614181	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:614181	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:614181	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:614181	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:614181	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:614181	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:614181	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:614181	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:614181	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:614181	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:614181	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:614181	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:614181	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:614181	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:614181	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:614181	MERTK	10461	HP:0000662	Nyctalopia
OMIM:614181	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:614181	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:614181	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:614181	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:614181	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:614181	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:614181	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:614181	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:614181	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:614181	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:614181	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:614181	USH2A	7399	HP:0000662	Nyctalopia
OMIM:614181	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:614181	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:614181	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:614181	RPE65	6121	HP:0000662	Nyctalopia
OMIM:614181	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:614181	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:614181	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:614181	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:614181	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:614181	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:614181	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:614181	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:614181	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:614181	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:614181	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:614181	RGR	5995	HP:0000662	Nyctalopia
OMIM:614181	RGR	5995	HP:0000543	Optic disc pallor
OMIM:614181	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:614181	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:614181	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:614181	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:614181	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:614181	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:614181	TUB	7275	HP:0000662	Nyctalopia
OMIM:614181	TUB	7275	HP:0000543	Optic disc pallor
OMIM:614181	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:614181	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:614181	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:614181	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:614181	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:614181	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:614181	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:614181	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:614181	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:614181	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:614181	TULP1	7287	HP:0000662	Nyctalopia
OMIM:614181	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:614181	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:614181	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:614181	RHO	6010	HP:0000662	Nyctalopia
OMIM:614181	RHO	6010	HP:0000543	Optic disc pallor
OMIM:614181	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:614181	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:614181	CA4	762	HP:0000662	Nyctalopia
OMIM:614181	CA4	762	HP:0000543	Optic disc pallor
OMIM:614181	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:614181	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:614181	CRB1	23418	HP:0000662	Nyctalopia
OMIM:614181	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:614181	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:614181	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:614181	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:614181	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:614181	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:614181	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:614181	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:614181	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:614181	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:614181	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:614181	CRX	1406	HP:0000662	Nyctalopia
OMIM:614181	CRX	1406	HP:0000543	Optic disc pallor
OMIM:614181	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:614181	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:112410	PDE3A	5139	HP:0009803	Short phalanx of finger
OMIM:112410	PDE3A	5139	HP:0001163	Abnormality of the metacarpal bones
OMIM:112410	PDE3A	5139	HP:0010579	Cone-shaped epiphysis
OMIM:112410	PDE3A	5139	HP:0000006	Autosomal dominant inheritance
OMIM:112410	PDE3A	5139	HP:0004322	Short stature
OMIM:112410	PDE3A	5139	HP:0001156	Brachydactyly syndrome
OMIM:112410	PDE3A	5139	HP:0000822	Hypertension
OMIM:112410	PDE3A	5139	HP:0001167	Abnormality of finger
OMIM:112410	PDE3A	5139	HP:0010049	Short metacarpal
OMIM:231005	GBA	2629	HP:0001761	Pes cavus
OMIM:231005	GBA	2629	HP:0001679	Abnormality of the aorta
OMIM:231005	GBA	2629	HP:0001876	Pancytopenia
OMIM:231005	GBA	2629	HP:0001744	Splenomegaly
OMIM:231005	GBA	2629	HP:0000365	Hearing impairment
OMIM:231005	GBA	2629	HP:0000486	Strabismus
OMIM:231005	GBA	2629	HP:0004963	Calcification of the aorta
OMIM:231005	GBA	2629	HP:0007759	Opacification of the corneal stroma
OMIM:231005	GBA	2629	HP:0000238	Hydrocephalus
OMIM:231005	GBA	2629	HP:0001276	Hypertonia
OMIM:231005	GBA	2629	HP:0001250	Seizures
OMIM:231005	GBA	2629	HP:0001635	Congestive heart failure
OMIM:231005	GBA	2629	HP:0000007	Autosomal recessive inheritance
OMIM:231005	GBA	2629	HP:0001646	Abnormality of the aortic valve
OMIM:231005	GBA	2629	HP:0001718	Mitral stenosis
OMIM:231005	GBA	2629	HP:0002240	Hepatomegaly
OMIM:231005	GBA	2629	HP:0000597	Ophthalmoparesis
OMIM:231005	GBA	2629	HP:0001640	Cardiomegaly
OMIM:615829	AHDC1	27245	HP:0000494	Downslanted palpebral fissures
OMIM:615829	AHDC1	27245	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615829	AHDC1	27245	HP:0001508	Failure to thrive
OMIM:615829	AHDC1	27245	HP:0001252	Muscular hypotonia
OMIM:615829	AHDC1	27245	HP:0001263	Global developmental delay
OMIM:615829	AHDC1	27245	HP:0009879	Cortical gyral simplification
OMIM:615829	AHDC1	27245	HP:0000565	Esotropia
OMIM:615829	AHDC1	27245	HP:0000582	Upslanted palpebral fissure
OMIM:615829	AHDC1	27245	HP:0012448	Delayed myelination
OMIM:615829	AHDC1	27245	HP:0009909	Uplifted earlobe
OMIM:615829	AHDC1	27245	HP:0000347	Micrognathia
OMIM:615829	AHDC1	27245	HP:0001249	Intellectual disability
OMIM:615829	AHDC1	27245	HP:0000316	Hypertelorism
OMIM:615829	AHDC1	27245	HP:0000369	Low-set ears
OMIM:615829	AHDC1	27245	HP:0001601	Laryngomalacia
OMIM:615829	AHDC1	27245	HP:0005280	Depressed nasal bridge
OMIM:615398	PIGT	51604	HP:0000164	Abnormality of the teeth
OMIM:615398	PIGT	51604	HP:0001321	Cerebellar hypoplasia
OMIM:615398	PIGT	51604	HP:0003593	Infantile onset
OMIM:615398	PIGT	51604	HP:0000121	Nephrocalcinosis
OMIM:615398	PIGT	51604	HP:0002750	Delayed skeletal maturation
OMIM:615398	PIGT	51604	HP:0001263	Global developmental delay
OMIM:615398	PIGT	51604	HP:0000341	Narrow forehead
OMIM:615398	PIGT	51604	HP:0002353	EEG abnormality
OMIM:615398	PIGT	51604	HP:0000767	Pectus excavatum
OMIM:615398	PIGT	51604	HP:0000938	Osteopenia
OMIM:615398	PIGT	51604	HP:0000248	Brachycephaly
OMIM:615398	PIGT	51604	HP:0000348	High forehead
OMIM:615398	PIGT	51604	HP:0000256	Macrocephaly
OMIM:615398	PIGT	51604	HP:0000639	Nystagmus
OMIM:615398	PIGT	51604	HP:0000505	Visual impairment
OMIM:615398	PIGT	51604	HP:0001723	Restrictive cardiomyopathy
OMIM:615398	PIGT	51604	HP:0003022	Hypoplasia of the ulna
OMIM:615398	PIGT	51604	HP:0005280	Depressed nasal bridge
OMIM:615398	PIGT	51604	HP:0000194	Open mouth
OMIM:615398	PIGT	51604	HP:0000007	Autosomal recessive inheritance
OMIM:615398	PIGT	51604	HP:0001643	Patent ductus arteriosus
OMIM:615398	PIGT	51604	HP:0002059	Cerebral atrophy
OMIM:615398	PIGT	51604	HP:0000540	Hypermetropia
OMIM:615398	PIGT	51604	HP:0002150	Hypercalciuria
OMIM:615398	PIGT	51604	HP:0000343	Long philtrum
OMIM:615398	PIGT	51604	HP:0002650	Scoliosis
OMIM:615398	PIGT	51604	HP:0001250	Seizures
OMIM:615398	PIGT	51604	HP:0000107	Renal cyst
OMIM:615398	PIGT	51604	HP:0001252	Muscular hypotonia
OMIM:615398	PIGT	51604	HP:0000486	Strabismus
OMIM:180020	GUCA1A	2978	HP:0000551	Abnormality of color vision
OMIM:180020	GUCA1A	2978	HP:0000006	Autosomal dominant inheritance
OMIM:180020	GUCA1A	2978	HP:0000512	Abnormal electroretinogram
OMIM:180020	GUCA1A	2978	HP:0000529	Progressive visual loss
OMIM:180020	GUCA1A	2978	HP:0011504	Bull's eye maculopathy
OMIM:180020	GUCA1A	2978	HP:0000613	Photophobia
OMIM:180020	CNGB3	54714	HP:0000551	Abnormality of color vision
OMIM:180020	CNGB3	54714	HP:0000006	Autosomal dominant inheritance
OMIM:180020	CNGB3	54714	HP:0000512	Abnormal electroretinogram
OMIM:180020	CNGB3	54714	HP:0000529	Progressive visual loss
OMIM:180020	CNGB3	54714	HP:0011504	Bull's eye maculopathy
OMIM:180020	CNGB3	54714	HP:0000613	Photophobia
OMIM:180020	PDE6C	5146	HP:0000551	Abnormality of color vision
OMIM:180020	PDE6C	5146	HP:0000006	Autosomal dominant inheritance
OMIM:180020	PDE6C	5146	HP:0000512	Abnormal electroretinogram
OMIM:180020	PDE6C	5146	HP:0000529	Progressive visual loss
OMIM:180020	PDE6C	5146	HP:0011504	Bull's eye maculopathy
OMIM:180020	PDE6C	5146	HP:0000613	Photophobia
OMIM:180020	GNAT2	2780	HP:0000551	Abnormality of color vision
OMIM:180020	GNAT2	2780	HP:0000006	Autosomal dominant inheritance
OMIM:180020	GNAT2	2780	HP:0000512	Abnormal electroretinogram
OMIM:180020	GNAT2	2780	HP:0000529	Progressive visual loss
OMIM:180020	GNAT2	2780	HP:0011504	Bull's eye maculopathy
OMIM:180020	GNAT2	2780	HP:0000613	Photophobia
OMIM:615959	SPEG	10290	HP:0003273	Hip contracture
OMIM:615959	SPEG	10290	HP:0006829	Severe muscular hypotonia
OMIM:615959	SPEG	10290	HP:0000278	Retrognathia
OMIM:615959	SPEG	10290	HP:0000160	Narrow mouth
OMIM:615959	SPEG	10290	HP:0010628	Facial palsy
OMIM:615959	SPEG	10290	HP:0000347	Micrognathia
OMIM:615959	SPEG	10290	HP:0002093	Respiratory insufficiency
OMIM:615959	SPEG	10290	HP:0001270	Motor delay
OMIM:615959	SPEG	10290	HP:0000218	High palate
OMIM:615959	SPEG	10290	HP:0000602	Ophthalmoplegia
OMIM:615959	SPEG	10290	HP:0001644	Dilated cardiomyopathy
OMIM:615959	SPEG	10290	HP:0001284	Areflexia
OMIM:615959	BIN1	274	HP:0003273	Hip contracture
OMIM:615959	BIN1	274	HP:0006829	Severe muscular hypotonia
OMIM:615959	BIN1	274	HP:0000278	Retrognathia
OMIM:615959	BIN1	274	HP:0000160	Narrow mouth
OMIM:615959	BIN1	274	HP:0010628	Facial palsy
OMIM:615959	BIN1	274	HP:0000347	Micrognathia
OMIM:615959	BIN1	274	HP:0002093	Respiratory insufficiency
OMIM:615959	BIN1	274	HP:0001270	Motor delay
OMIM:615959	BIN1	274	HP:0000218	High palate
OMIM:615959	BIN1	274	HP:0000602	Ophthalmoplegia
OMIM:615959	BIN1	274	HP:0001644	Dilated cardiomyopathy
OMIM:615959	BIN1	274	HP:0001284	Areflexia
OMIM:615959	TTN	7273	HP:0003273	Hip contracture
OMIM:615959	TTN	7273	HP:0006829	Severe muscular hypotonia
OMIM:615959	TTN	7273	HP:0000278	Retrognathia
OMIM:615959	TTN	7273	HP:0000160	Narrow mouth
OMIM:615959	TTN	7273	HP:0010628	Facial palsy
OMIM:615959	TTN	7273	HP:0000347	Micrognathia
OMIM:615959	TTN	7273	HP:0002093	Respiratory insufficiency
OMIM:615959	TTN	7273	HP:0001270	Motor delay
OMIM:615959	TTN	7273	HP:0000218	High palate
OMIM:615959	TTN	7273	HP:0000602	Ophthalmoplegia
OMIM:615959	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:615959	TTN	7273	HP:0001284	Areflexia
ORPHANET:99872	BRAF	673	HP:0002240	Hepatomegaly
ORPHANET:99872	BRAF	673	HP:0011001	Increased bone mineral density
ORPHANET:99872	BRAF	673	HP:0002754	Osteomyelitis
ORPHANET:99872	BRAF	673	HP:0006824	Cranial nerve paralysis
ORPHANET:99872	BRAF	673	HP:0000163	Abnormality of the oral cavity
ORPHANET:99872	BRAF	673	HP:0002311	Incoordination
ORPHANET:99872	BRAF	673	HP:0005264	Abnormality of the gallbladder
ORPHANET:99872	BRAF	673	HP:0002910	Elevated hepatic transaminases
ORPHANET:99872	BRAF	673	HP:0001034	Hypermelanotic macule
ORPHANET:99872	BRAF	673	HP:0002797	Osteolysis
ORPHANET:99872	BRAF	673	HP:0002167	Neurological speech impairment
ORPHANET:99872	BRAF	673	HP:0002488	Acute leukemia
ORPHANET:99872	BRAF	673	HP:0005528	Bone marrow hypocellularity
ORPHANET:99872	BRAF	673	HP:0002665	Lymphoma
ORPHANET:99872	BRAF	673	HP:0001744	Splenomegaly
ORPHANET:99872	BRAF	673	HP:0002716	Lymphadenopathy
ORPHANET:99872	BRAF	673	HP:0000639	Nystagmus
ORPHANET:99872	BRAF	673	HP:0001399	Hepatic failure
OMIM:611377	NOG	9241	HP:0001798	Anonychia
OMIM:611377	NOG	9241	HP:0006101	Finger syndactyly
OMIM:611377	NOG	9241	HP:0006109	Absent phalangeal crease
OMIM:611377	NOG	9241	HP:0006152	Proximal symphalangism (hands)
OMIM:611377	NOG	9241	HP:0008386	Aplasia/Hypoplasia of the nails
OMIM:611377	NOG	9241	HP:0009702	Carpal synostosis
OMIM:611377	NOG	9241	HP:0009623	Proximal placement of thumb
OMIM:611377	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:611377	NOG	9241	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
OMIM:611377	NOG	9241	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:611377	NOG	9241	HP:0010034	Short 1st metacarpal
OMIM:611377	NOG	9241	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:611377	NOG	9241	HP:0001831	Short toe
OMIM:611377	NOG	9241	HP:0005048	Synostosis of carpal bones
OMIM:611377	NOG	9241	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
OMIM:611377	NOG	9241	HP:0009882	Short distal phalanx of finger
OMIM:611377	NOG	9241	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:611377	NOG	9241	HP:0010554	Cutaneous finger syndactyly
OMIM:611377	NOG	9241	HP:0000540	Hypermetropia
OMIM:611377	NOG	9241	HP:0001156	Brachydactyly syndrome
OMIM:611377	NOG	9241	HP:0008368	Tarsal synostosis
OMIM:611377	NOG	9241	HP:0000407	Sensorineural hearing impairment
OMIM:616172	STX1B	112755	HP:0002069	Generalized tonic-clonic seizures
OMIM:616172	STX1B	112755	HP:0002121	Absence seizures
OMIM:616172	STX1B	112755	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616172	STX1B	112755	HP:0010819	Atonic seizures
OMIM:616172	STX1B	112755	HP:0001263	Global developmental delay
OMIM:616172	SCN1A	6323	HP:0002069	Generalized tonic-clonic seizures
OMIM:616172	SCN1A	6323	HP:0002121	Absence seizures
OMIM:616172	SCN1A	6323	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616172	SCN1A	6323	HP:0010819	Atonic seizures
OMIM:616172	SCN1A	6323	HP:0001263	Global developmental delay
OMIM:616172	GABRD	2563	HP:0002069	Generalized tonic-clonic seizures
OMIM:616172	GABRD	2563	HP:0002121	Absence seizures
OMIM:616172	GABRD	2563	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616172	GABRD	2563	HP:0010819	Atonic seizures
OMIM:616172	GABRD	2563	HP:0001263	Global developmental delay
OMIM:616172	SCN1B	6324	HP:0002069	Generalized tonic-clonic seizures
OMIM:616172	SCN1B	6324	HP:0002121	Absence seizures
OMIM:616172	SCN1B	6324	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616172	SCN1B	6324	HP:0010819	Atonic seizures
OMIM:616172	SCN1B	6324	HP:0001263	Global developmental delay
OMIM:616172	SCN2A	6326	HP:0002069	Generalized tonic-clonic seizures
OMIM:616172	SCN2A	6326	HP:0002121	Absence seizures
OMIM:616172	SCN2A	6326	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616172	SCN2A	6326	HP:0010819	Atonic seizures
OMIM:616172	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:616172	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:616172	GABRG2	2566	HP:0002121	Absence seizures
OMIM:616172	GABRG2	2566	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616172	GABRG2	2566	HP:0010819	Atonic seizures
OMIM:616172	GABRG2	2566	HP:0001263	Global developmental delay
OMIM:616172	SCN9A	6335	HP:0002069	Generalized tonic-clonic seizures
OMIM:616172	SCN9A	6335	HP:0002121	Absence seizures
OMIM:616172	SCN9A	6335	HP:0002384	Focal seizures with impairment of consciousness or awareness
OMIM:616172	SCN9A	6335	HP:0010819	Atonic seizures
OMIM:616172	SCN9A	6335	HP:0001263	Global developmental delay
ORPHANET:79278	ALAS2	212	HP:0001080	Biliary tract abnormality
ORPHANET:79278	ALAS2	212	HP:0001025	Urticaria
ORPHANET:79278	ALAS2	212	HP:0000969	Edema
ORPHANET:79278	ALAS2	212	HP:0000992	Cutaneous photosensitivity
ORPHANET:79278	ALAS2	212	HP:0000964	Eczema
ORPHANET:79278	ALAS2	212	HP:0001394	Cirrhosis
ORPHANET:79278	FECH	2235	HP:0001080	Biliary tract abnormality
ORPHANET:79278	FECH	2235	HP:0001025	Urticaria
ORPHANET:79278	FECH	2235	HP:0000969	Edema
ORPHANET:79278	FECH	2235	HP:0000992	Cutaneous photosensitivity
ORPHANET:79278	FECH	2235	HP:0000964	Eczema
ORPHANET:79278	FECH	2235	HP:0001394	Cirrhosis
OMIM:140400	SCN1B	6324	HP:0001279	Syncope
OMIM:140400	SCN1B	6324	HP:0001645	Sudden cardiac death
OMIM:140400	SCN1B	6324	HP:0001699	Sudden death
OMIM:140400	SCN1B	6324	HP:0001688	Sinus bradycardia
OMIM:140400	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:140400	NKX2-5	1482	HP:0001279	Syncope
OMIM:140400	NKX2-5	1482	HP:0001645	Sudden cardiac death
OMIM:140400	NKX2-5	1482	HP:0001699	Sudden death
OMIM:140400	NKX2-5	1482	HP:0001688	Sinus bradycardia
OMIM:140400	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:140400	SCN5A	6331	HP:0001279	Syncope
OMIM:140400	SCN5A	6331	HP:0001645	Sudden cardiac death
OMIM:140400	SCN5A	6331	HP:0001699	Sudden death
OMIM:140400	SCN5A	6331	HP:0001688	Sinus bradycardia
OMIM:140400	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:140400	TRPM4	54795	HP:0001279	Syncope
OMIM:140400	TRPM4	54795	HP:0001645	Sudden cardiac death
OMIM:140400	TRPM4	54795	HP:0001699	Sudden death
OMIM:140400	TRPM4	54795	HP:0001688	Sinus bradycardia
OMIM:140400	TRPM4	54795	HP:0000006	Autosomal dominant inheritance
OMIM:613838	MYOZ2	51778	HP:0000006	Autosomal dominant inheritance
OMIM:613838	MYOZ2	51778	HP:0011713	Left bundle branch block
OMIM:613838	MYOZ2	51778	HP:0005110	Atrial fibrillation
OMIM:613838	MYOZ2	51778	HP:0001712	Left ventricular hypertrophy
OMIM:613838	MYOZ2	51778	HP:0004756	Ventricular tachycardia
OMIM:613838	MYOZ2	51778	HP:0001670	Asymmetric septal hypertrophy
OMIM:614895	PRX	57716	HP:0001284	Areflexia
OMIM:614895	PRX	57716	HP:0001761	Pes cavus
OMIM:614895	PRX	57716	HP:0001604	Vocal cord paresis
OMIM:614895	PRX	57716	HP:0011096	Peripheral demyelination
OMIM:614895	PRX	57716	HP:0000007	Autosomal recessive inheritance
OMIM:614895	PRX	57716	HP:0002355	Difficulty walking
OMIM:614895	PRX	57716	HP:0002936	Distal sensory impairment
OMIM:614895	PRX	57716	HP:0003677	Slow progression
OMIM:614895	PRX	57716	HP:0003690	Limb muscle weakness
OMIM:614895	PRX	57716	HP:0002650	Scoliosis
OMIM:614895	PRX	57716	HP:0003202	Skeletal muscle atrophy
OMIM:614895	PRX	57716	HP:0001270	Motor delay
OMIM:614895	PRX	57716	HP:0003431	Decreased motor nerve conduction velocity
OMIM:602482	FOXC1	2296	HP:0000520	Proptosis
OMIM:602482	FOXC1	2296	HP:0000668	Hypodontia
OMIM:602482	FOXC1	2296	HP:0000501	Glaucoma
OMIM:602482	FOXC1	2296	HP:0001631	Atria septal defect
OMIM:602482	FOXC1	2296	HP:0000006	Autosomal dominant inheritance
OMIM:602482	FOXC1	2296	HP:0000691	Microdontia
OMIM:602482	FOXC1	2296	HP:0001425	Heterogeneous
OMIM:602482	FOXC1	2296	HP:0011120	Concave nasal ridge
OMIM:602482	FOXC1	2296	HP:0000316	Hypertelorism
OMIM:602482	FOXC1	2296	HP:0040199	Flat midface
OMIM:602482	FOXC1	2296	HP:0000272	Malar flattening
OMIM:602482	FOXC1	2296	HP:0000407	Sensorineural hearing impairment
OMIM:602482	FOXC1	2296	HP:0001320	Cerebellar vermis hypoplasia
OMIM:602482	FOXC1	2296	HP:0000627	Posterior embryotoxon
OMIM:602482	FOXC1	2296	HP:0001643	Patent ductus arteriosus
OMIM:602482	PITX2	5308	HP:0000520	Proptosis
OMIM:602482	PITX2	5308	HP:0000668	Hypodontia
OMIM:602482	PITX2	5308	HP:0000501	Glaucoma
OMIM:602482	PITX2	5308	HP:0001631	Atria septal defect
OMIM:602482	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:602482	PITX2	5308	HP:0000691	Microdontia
OMIM:602482	PITX2	5308	HP:0001425	Heterogeneous
OMIM:602482	PITX2	5308	HP:0011120	Concave nasal ridge
OMIM:602482	PITX2	5308	HP:0000316	Hypertelorism
OMIM:602482	PITX2	5308	HP:0040199	Flat midface
OMIM:602482	PITX2	5308	HP:0000272	Malar flattening
OMIM:602482	PITX2	5308	HP:0000407	Sensorineural hearing impairment
OMIM:602482	PITX2	5308	HP:0001320	Cerebellar vermis hypoplasia
OMIM:602482	PITX2	5308	HP:0000627	Posterior embryotoxon
OMIM:602482	PITX2	5308	HP:0001643	Patent ductus arteriosus
OMIM:608266	CDC73	79577	HP:0000006	Autosomal dominant inheritance
OMIM:608266	CDC73	79577	HP:0000843	Hyperparathyroidism
OMIM:608266	CDC73	79577	HP:0003072	Hypercalcemia
OMIM:608266	CDC73	79577	HP:0001428	Somatic mutation
OMIM:200150	VPS13A	23230	HP:0001250	Seizures
OMIM:200150	VPS13A	23230	HP:0003198	Myopathy
OMIM:200150	VPS13A	23230	HP:0000007	Autosomal recessive inheritance
OMIM:200150	VPS13A	23230	HP:0000709	Psychosis
OMIM:200150	VPS13A	23230	HP:0001288	Gait disturbance
OMIM:200150	VPS13A	23230	HP:0004322	Short stature
OMIM:200150	VPS13A	23230	HP:0000980	Pallor
OMIM:200150	VPS13A	23230	HP:0000739	Anxiety
OMIM:200150	VPS13A	23230	HP:0001337	Tremor
OMIM:200150	VPS13A	23230	HP:0002024	Malabsorption
OMIM:200150	VPS13A	23230	HP:0002633	Vasculitis
OMIM:200150	VPS13A	23230	HP:0001639	Hypertrophic cardiomyopathy
OMIM:200150	VPS13A	23230	HP:0003690	Limb muscle weakness
OMIM:200150	VPS13A	23230	HP:0009830	Peripheral neuropathy
OMIM:200150	VPS13A	23230	HP:0002240	Hepatomegaly
OMIM:200150	VPS13A	23230	HP:0002205	Recurrent respiratory infections
OMIM:200150	VPS13A	23230	HP:0001575	Mood changes
OMIM:200150	VPS13A	23230	HP:0003676	Progressive
OMIM:200150	VPS13A	23230	HP:0002167	Neurological speech impairment
OMIM:200150	VPS13A	23230	HP:0001252	Muscular hypotonia
OMIM:200150	VPS13A	23230	HP:0002376	Developmental regression
OMIM:200150	VPS13A	23230	HP:0100033	Tics
OMIM:200150	VPS13A	23230	HP:0000518	Cataract
OMIM:200150	VPS13A	23230	HP:0002716	Lymphadenopathy
OMIM:200150	VPS13A	23230	HP:0002015	Dysphagia
OMIM:200150	VPS13A	23230	HP:0000726	Dementia
OMIM:200150	VPS13A	23230	HP:0007018	Attention deficit hyperactivity disorder
OMIM:200150	VPS13A	23230	HP:0001761	Pes cavus
OMIM:200150	VPS13A	23230	HP:0003202	Skeletal muscle atrophy
OMIM:200150	VPS13A	23230	HP:0002307	Drooling
OMIM:200150	VPS13A	23230	HP:0001928	Abnormality of coagulation
OMIM:200150	VPS13A	23230	HP:0001260	Dysarthria
OMIM:200150	VPS13A	23230	HP:0001300	Parkinsonism
OMIM:200150	VPS13A	23230	HP:0003110	Abnormality of urine homeostasis
OMIM:200150	VPS13A	23230	HP:0001824	Weight loss
OMIM:200150	VPS13A	23230	HP:0100716	Self-injurious behavior
OMIM:200150	VPS13A	23230	HP:0001744	Splenomegaly
OMIM:200150	VPS13A	23230	HP:0001332	Dystonia
OMIM:200150	VPS13A	23230	HP:0002119	Ventriculomegaly
OMIM:200150	VPS13A	23230	HP:0000718	Aggressive behavior
OMIM:200150	VPS13A	23230	HP:0000639	Nystagmus
OMIM:200150	VPS13A	23230	HP:0002354	Memory impairment
OMIM:200150	VPS13A	23230	HP:0000820	Abnormality of the thyroid gland
OMIM:200150	VPS13A	23230	HP:0001265	Hyporeflexia
OMIM:200150	VPS13A	23230	HP:0002360	Sleep disturbance
OMIM:200150	VPS13A	23230	HP:0000763	Sensory neuropathy
OMIM:200150	VPS13A	23230	HP:0001284	Areflexia
OMIM:200150	VPS13A	23230	HP:0002072	Chorea
OMIM:200150	VPS13A	23230	HP:0002910	Elevated hepatic transaminases
OMIM:200150	VPS13A	23230	HP:0003236	Elevated serum creatine phosphokinase
OMIM:200150	VPS13A	23230	HP:0001541	Ascites
OMIM:200150	VPS13A	23230	HP:0002311	Incoordination
OMIM:200150	VPS13A	23230	HP:0002120	Cerebral cortical atrophy
OMIM:200150	VPS13A	23230	HP:0001877	Abnormality of erythrocytes
OMIM:200150	VPS13A	23230	HP:0002017	Nausea and vomiting
OMIM:200150	VPS13A	23230	HP:0000163	Abnormality of the oral cavity
OMIM:200150	VPS13A	23230	HP:0002027	Abdominal pain
OMIM:200150	VPS13A	23230	HP:0003457	EMG abnormality
OMIM:252160	MOCS2	4338	HP:0000252	Microcephaly
OMIM:252160	MOCS2	4338	HP:0002007	Frontal bossing
OMIM:252160	MOCS2	4338	HP:0001083	Ectopia lentis
OMIM:252160	MOCS2	4338	HP:0002119	Ventriculomegaly
OMIM:252160	MOCS2	4338	HP:0002059	Cerebral atrophy
OMIM:252160	MOCS2	4338	HP:0002179	Opisthotonus
OMIM:252160	MOCS2	4338	HP:0000293	Full cheeks
OMIM:252160	MOCS2	4338	HP:0000343	Long philtrum
OMIM:252160	MOCS2	4338	HP:0000276	Long face
OMIM:252160	MOCS2	4338	HP:0000316	Hypertelorism
OMIM:252160	MOCS2	4338	HP:0012471	Thick vermilion border
OMIM:252160	MOCS2	4338	HP:0003739	Myoclonic spasms
OMIM:252160	MOCS2	4338	HP:0003196	Short nose
OMIM:252160	MOCS2	4338	HP:0002171	Gliosis
OMIM:252160	MOCS2	4338	HP:0002510	Spastic tetraplegia
OMIM:252160	MOCS2	4338	HP:0001510	Growth delay
OMIM:252160	MOCS2	4338	HP:0003676	Progressive
OMIM:252160	MOCS2	4338	HP:0011096	Peripheral demyelination
OMIM:252160	MOCS2	4338	HP:0011968	Feeding difficulties
OMIM:252160	MOCS2	4338	HP:0000639	Nystagmus
OMIM:252160	MOCS2	4338	HP:0002079	Hypoplasia of the corpus callosum
OMIM:252160	MOCS2	4338	HP:0000007	Autosomal recessive inheritance
OMIM:252160	MOCS2	4338	HP:0000256	Macrocephaly
OMIM:612621	MBD5	55777	HP:0200134	Epileptic encephalopathy
OMIM:612621	MBD5	55777	HP:0001250	Seizures
OMIM:612621	MBD5	55777	HP:0002376	Developmental regression
OMIM:612621	MBD5	55777	HP:0002463	Language impairment
OMIM:612621	MBD5	55777	HP:0000473	Torticollis
OMIM:612621	MBD5	55777	HP:0002353	EEG abnormality
OMIM:612621	MBD5	55777	HP:0000729	Autistic behavior
OMIM:612621	MBD5	55777	HP:0001263	Global developmental delay
OMIM:612621	MBD5	55777	HP:0000252	Microcephaly
OMIM:612621	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:612621	MBD5	55777	HP:0001270	Motor delay
OMIM:612621	MBD5	55777	HP:0001252	Muscular hypotonia
OMIM:612621	MBD5	55777	HP:0001249	Intellectual disability
OMIM:612621	CACNG2	10369	HP:0200134	Epileptic encephalopathy
OMIM:612621	CACNG2	10369	HP:0001250	Seizures
OMIM:612621	CACNG2	10369	HP:0002376	Developmental regression
OMIM:612621	CACNG2	10369	HP:0002463	Language impairment
OMIM:612621	CACNG2	10369	HP:0000473	Torticollis
OMIM:612621	CACNG2	10369	HP:0002353	EEG abnormality
OMIM:612621	CACNG2	10369	HP:0000729	Autistic behavior
OMIM:612621	CACNG2	10369	HP:0001263	Global developmental delay
OMIM:612621	CACNG2	10369	HP:0000252	Microcephaly
OMIM:612621	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:612621	CACNG2	10369	HP:0001270	Motor delay
OMIM:612621	CACNG2	10369	HP:0001252	Muscular hypotonia
OMIM:612621	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:612621	DYRK1A	1859	HP:0200134	Epileptic encephalopathy
OMIM:612621	DYRK1A	1859	HP:0001250	Seizures
OMIM:612621	DYRK1A	1859	HP:0002376	Developmental regression
OMIM:612621	DYRK1A	1859	HP:0002463	Language impairment
OMIM:612621	DYRK1A	1859	HP:0000473	Torticollis
OMIM:612621	DYRK1A	1859	HP:0002353	EEG abnormality
OMIM:612621	DYRK1A	1859	HP:0000729	Autistic behavior
OMIM:612621	DYRK1A	1859	HP:0001263	Global developmental delay
OMIM:612621	DYRK1A	1859	HP:0000252	Microcephaly
OMIM:612621	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:612621	DYRK1A	1859	HP:0001270	Motor delay
OMIM:612621	DYRK1A	1859	HP:0001252	Muscular hypotonia
OMIM:612621	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:612621	KIF1A	547	HP:0200134	Epileptic encephalopathy
OMIM:612621	KIF1A	547	HP:0001250	Seizures
OMIM:612621	KIF1A	547	HP:0002376	Developmental regression
OMIM:612621	KIF1A	547	HP:0002463	Language impairment
OMIM:612621	KIF1A	547	HP:0000473	Torticollis
OMIM:612621	KIF1A	547	HP:0002353	EEG abnormality
OMIM:612621	KIF1A	547	HP:0000729	Autistic behavior
OMIM:612621	KIF1A	547	HP:0001263	Global developmental delay
OMIM:612621	KIF1A	547	HP:0000252	Microcephaly
OMIM:612621	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:612621	KIF1A	547	HP:0001270	Motor delay
OMIM:612621	KIF1A	547	HP:0001252	Muscular hypotonia
OMIM:612621	KIF1A	547	HP:0001249	Intellectual disability
OMIM:612621	DOCK8	81704	HP:0200134	Epileptic encephalopathy
OMIM:612621	DOCK8	81704	HP:0001250	Seizures
OMIM:612621	DOCK8	81704	HP:0002376	Developmental regression
OMIM:612621	DOCK8	81704	HP:0002463	Language impairment
OMIM:612621	DOCK8	81704	HP:0000473	Torticollis
OMIM:612621	DOCK8	81704	HP:0002353	EEG abnormality
OMIM:612621	DOCK8	81704	HP:0000729	Autistic behavior
OMIM:612621	DOCK8	81704	HP:0001263	Global developmental delay
OMIM:612621	DOCK8	81704	HP:0000252	Microcephaly
OMIM:612621	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:612621	DOCK8	81704	HP:0001270	Motor delay
OMIM:612621	DOCK8	81704	HP:0001252	Muscular hypotonia
OMIM:612621	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:612621	TCF4	6925	HP:0200134	Epileptic encephalopathy
OMIM:612621	TCF4	6925	HP:0001250	Seizures
OMIM:612621	TCF4	6925	HP:0002376	Developmental regression
OMIM:612621	TCF4	6925	HP:0002463	Language impairment
OMIM:612621	TCF4	6925	HP:0000473	Torticollis
OMIM:612621	TCF4	6925	HP:0002353	EEG abnormality
OMIM:612621	TCF4	6925	HP:0000729	Autistic behavior
OMIM:612621	TCF4	6925	HP:0001263	Global developmental delay
OMIM:612621	TCF4	6925	HP:0000252	Microcephaly
OMIM:612621	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:612621	TCF4	6925	HP:0001270	Motor delay
OMIM:612621	TCF4	6925	HP:0001252	Muscular hypotonia
OMIM:612621	TCF4	6925	HP:0001249	Intellectual disability
OMIM:612621	KIRREL3	84623	HP:0200134	Epileptic encephalopathy
OMIM:612621	KIRREL3	84623	HP:0001250	Seizures
OMIM:612621	KIRREL3	84623	HP:0002376	Developmental regression
OMIM:612621	KIRREL3	84623	HP:0002463	Language impairment
OMIM:612621	KIRREL3	84623	HP:0000473	Torticollis
OMIM:612621	KIRREL3	84623	HP:0002353	EEG abnormality
OMIM:612621	KIRREL3	84623	HP:0000729	Autistic behavior
OMIM:612621	KIRREL3	84623	HP:0001263	Global developmental delay
OMIM:612621	KIRREL3	84623	HP:0000252	Microcephaly
OMIM:612621	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:612621	KIRREL3	84623	HP:0001270	Motor delay
OMIM:612621	KIRREL3	84623	HP:0001252	Muscular hypotonia
OMIM:612621	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:612621	DYNC1H1	1778	HP:0200134	Epileptic encephalopathy
OMIM:612621	DYNC1H1	1778	HP:0001250	Seizures
OMIM:612621	DYNC1H1	1778	HP:0002376	Developmental regression
OMIM:612621	DYNC1H1	1778	HP:0002463	Language impairment
OMIM:612621	DYNC1H1	1778	HP:0000473	Torticollis
OMIM:612621	DYNC1H1	1778	HP:0002353	EEG abnormality
OMIM:612621	DYNC1H1	1778	HP:0000729	Autistic behavior
OMIM:612621	DYNC1H1	1778	HP:0001263	Global developmental delay
OMIM:612621	DYNC1H1	1778	HP:0000252	Microcephaly
OMIM:612621	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:612621	DYNC1H1	1778	HP:0001270	Motor delay
OMIM:612621	DYNC1H1	1778	HP:0001252	Muscular hypotonia
OMIM:612621	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:612621	EPB41L1	2036	HP:0200134	Epileptic encephalopathy
OMIM:612621	EPB41L1	2036	HP:0001250	Seizures
OMIM:612621	EPB41L1	2036	HP:0002376	Developmental regression
OMIM:612621	EPB41L1	2036	HP:0002463	Language impairment
OMIM:612621	EPB41L1	2036	HP:0000473	Torticollis
OMIM:612621	EPB41L1	2036	HP:0002353	EEG abnormality
OMIM:612621	EPB41L1	2036	HP:0000729	Autistic behavior
OMIM:612621	EPB41L1	2036	HP:0001263	Global developmental delay
OMIM:612621	EPB41L1	2036	HP:0000252	Microcephaly
OMIM:612621	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:612621	EPB41L1	2036	HP:0001270	Motor delay
OMIM:612621	EPB41L1	2036	HP:0001252	Muscular hypotonia
OMIM:612621	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:612621	CDH15	1013	HP:0200134	Epileptic encephalopathy
OMIM:612621	CDH15	1013	HP:0001250	Seizures
OMIM:612621	CDH15	1013	HP:0002376	Developmental regression
OMIM:612621	CDH15	1013	HP:0002463	Language impairment
OMIM:612621	CDH15	1013	HP:0000473	Torticollis
OMIM:612621	CDH15	1013	HP:0002353	EEG abnormality
OMIM:612621	CDH15	1013	HP:0000729	Autistic behavior
OMIM:612621	CDH15	1013	HP:0001263	Global developmental delay
OMIM:612621	CDH15	1013	HP:0000252	Microcephaly
OMIM:612621	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:612621	CDH15	1013	HP:0001270	Motor delay
OMIM:612621	CDH15	1013	HP:0001252	Muscular hypotonia
OMIM:612621	CDH15	1013	HP:0001249	Intellectual disability
OMIM:612621	GRIN1	2902	HP:0200134	Epileptic encephalopathy
OMIM:612621	GRIN1	2902	HP:0001250	Seizures
OMIM:612621	GRIN1	2902	HP:0002376	Developmental regression
OMIM:612621	GRIN1	2902	HP:0002463	Language impairment
OMIM:612621	GRIN1	2902	HP:0000473	Torticollis
OMIM:612621	GRIN1	2902	HP:0002353	EEG abnormality
OMIM:612621	GRIN1	2902	HP:0000729	Autistic behavior
OMIM:612621	GRIN1	2902	HP:0001263	Global developmental delay
OMIM:612621	GRIN1	2902	HP:0000252	Microcephaly
OMIM:612621	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:612621	GRIN1	2902	HP:0001270	Motor delay
OMIM:612621	GRIN1	2902	HP:0001252	Muscular hypotonia
OMIM:612621	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:612621	GRIN2B	2904	HP:0200134	Epileptic encephalopathy
OMIM:612621	GRIN2B	2904	HP:0001250	Seizures
OMIM:612621	GRIN2B	2904	HP:0002376	Developmental regression
OMIM:612621	GRIN2B	2904	HP:0002463	Language impairment
OMIM:612621	GRIN2B	2904	HP:0000473	Torticollis
OMIM:612621	GRIN2B	2904	HP:0002353	EEG abnormality
OMIM:612621	GRIN2B	2904	HP:0000729	Autistic behavior
OMIM:612621	GRIN2B	2904	HP:0001263	Global developmental delay
OMIM:612621	GRIN2B	2904	HP:0000252	Microcephaly
OMIM:612621	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:612621	GRIN2B	2904	HP:0001270	Motor delay
OMIM:612621	GRIN2B	2904	HP:0001252	Muscular hypotonia
OMIM:612621	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:612621	DEAF1	10522	HP:0200134	Epileptic encephalopathy
OMIM:612621	DEAF1	10522	HP:0001250	Seizures
OMIM:612621	DEAF1	10522	HP:0002376	Developmental regression
OMIM:612621	DEAF1	10522	HP:0002463	Language impairment
OMIM:612621	DEAF1	10522	HP:0000473	Torticollis
OMIM:612621	DEAF1	10522	HP:0002353	EEG abnormality
OMIM:612621	DEAF1	10522	HP:0000729	Autistic behavior
OMIM:612621	DEAF1	10522	HP:0001263	Global developmental delay
OMIM:612621	DEAF1	10522	HP:0000252	Microcephaly
OMIM:612621	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:612621	DEAF1	10522	HP:0001270	Motor delay
OMIM:612621	DEAF1	10522	HP:0001252	Muscular hypotonia
OMIM:612621	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:612621	SYNGAP1	8831	HP:0200134	Epileptic encephalopathy
OMIM:612621	SYNGAP1	8831	HP:0001250	Seizures
OMIM:612621	SYNGAP1	8831	HP:0002376	Developmental regression
OMIM:612621	SYNGAP1	8831	HP:0002463	Language impairment
OMIM:612621	SYNGAP1	8831	HP:0000473	Torticollis
OMIM:612621	SYNGAP1	8831	HP:0002353	EEG abnormality
OMIM:612621	SYNGAP1	8831	HP:0000729	Autistic behavior
OMIM:612621	SYNGAP1	8831	HP:0001263	Global developmental delay
OMIM:612621	SYNGAP1	8831	HP:0000252	Microcephaly
OMIM:612621	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:612621	SYNGAP1	8831	HP:0001270	Motor delay
OMIM:612621	SYNGAP1	8831	HP:0001252	Muscular hypotonia
OMIM:612621	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:611938	CALM1	801	HP:0001699	Sudden death
OMIM:611938	CALM1	801	HP:0000007	Autosomal recessive inheritance
OMIM:611938	CALM1	801	HP:0001250	Seizures
OMIM:611938	CALM1	801	HP:0001279	Syncope
OMIM:611938	CALM1	801	HP:0004756	Ventricular tachycardia
OMIM:611938	CALM2	805	HP:0001699	Sudden death
OMIM:611938	CALM2	805	HP:0000007	Autosomal recessive inheritance
OMIM:611938	CALM2	805	HP:0001250	Seizures
OMIM:611938	CALM2	805	HP:0001279	Syncope
OMIM:611938	CALM2	805	HP:0004756	Ventricular tachycardia
OMIM:611938	RYR2	6262	HP:0001699	Sudden death
OMIM:611938	RYR2	6262	HP:0000007	Autosomal recessive inheritance
OMIM:611938	RYR2	6262	HP:0001250	Seizures
OMIM:611938	RYR2	6262	HP:0001279	Syncope
OMIM:611938	RYR2	6262	HP:0004756	Ventricular tachycardia
OMIM:611938	CALM3	808	HP:0001699	Sudden death
OMIM:611938	CALM3	808	HP:0000007	Autosomal recessive inheritance
OMIM:611938	CALM3	808	HP:0001250	Seizures
OMIM:611938	CALM3	808	HP:0001279	Syncope
OMIM:611938	CALM3	808	HP:0004756	Ventricular tachycardia
OMIM:611938	TRDN	10345	HP:0001699	Sudden death
OMIM:611938	TRDN	10345	HP:0000007	Autosomal recessive inheritance
OMIM:611938	TRDN	10345	HP:0001250	Seizures
OMIM:611938	TRDN	10345	HP:0001279	Syncope
OMIM:611938	TRDN	10345	HP:0004756	Ventricular tachycardia
OMIM:611938	CASQ2	845	HP:0001699	Sudden death
OMIM:611938	CASQ2	845	HP:0000007	Autosomal recessive inheritance
OMIM:611938	CASQ2	845	HP:0001250	Seizures
OMIM:611938	CASQ2	845	HP:0001279	Syncope
OMIM:611938	CASQ2	845	HP:0004756	Ventricular tachycardia
OMIM:615184	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:615184	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:615184	TPM1	7168	HP:0001653	Mitral regurgitation
OMIM:615184	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:615184	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:615184	CRYAB	1410	HP:0001653	Mitral regurgitation
OMIM:615184	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:615184	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:615184	ACTC1	70	HP:0001653	Mitral regurgitation
OMIM:615184	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:615184	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:615184	RAF1	5894	HP:0001653	Mitral regurgitation
OMIM:615184	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:615184	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:615184	GATAD1	57798	HP:0001653	Mitral regurgitation
OMIM:615184	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:615184	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:615184	LAMA4	3910	HP:0001653	Mitral regurgitation
OMIM:615184	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:615184	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:615184	TMPO	7112	HP:0001653	Mitral regurgitation
OMIM:615184	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:615184	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:615184	DES	1674	HP:0001653	Mitral regurgitation
OMIM:615184	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:615184	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:615184	ABCC9	10060	HP:0001653	Mitral regurgitation
OMIM:615184	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:615184	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:615184	MYH6	4624	HP:0001653	Mitral regurgitation
OMIM:615184	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:615184	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:615184	MYH7	4625	HP:0001653	Mitral regurgitation
OMIM:615184	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:615184	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:615184	LDB3	11155	HP:0001653	Mitral regurgitation
OMIM:615184	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:615184	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:615184	ACTN2	88	HP:0001653	Mitral regurgitation
OMIM:615184	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:615184	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:615184	TXNRD2	10587	HP:0001653	Mitral regurgitation
OMIM:615184	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:615184	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:615184	DMD	1756	HP:0001653	Mitral regurgitation
OMIM:615184	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:615184	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:615184	TNNC1	7134	HP:0001653	Mitral regurgitation
OMIM:615184	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:615184	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:615184	PSEN1	5663	HP:0001653	Mitral regurgitation
OMIM:615184	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:615184	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:615184	PSEN2	5664	HP:0001653	Mitral regurgitation
OMIM:615184	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:615184	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:615184	TNNI3	7137	HP:0001653	Mitral regurgitation
OMIM:615184	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:615184	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:615184	FHL2	2274	HP:0001653	Mitral regurgitation
OMIM:615184	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:615184	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:615184	TNNT2	7139	HP:0001653	Mitral regurgitation
OMIM:615184	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:615184	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:615184	DSG2	1829	HP:0001653	Mitral regurgitation
OMIM:615184	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:615184	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:615184	PLN	5350	HP:0001653	Mitral regurgitation
OMIM:615184	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:615184	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:615184	PRDM16	63976	HP:0001653	Mitral regurgitation
OMIM:615184	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:615184	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:615184	TTN	7273	HP:0001653	Mitral regurgitation
OMIM:615184	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:615184	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:615184	NEXN	91624	HP:0001653	Mitral regurgitation
OMIM:615184	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:615184	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:615184	FKTN	2218	HP:0001653	Mitral regurgitation
OMIM:615184	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:615184	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:615184	SGCD	6444	HP:0001653	Mitral regurgitation
OMIM:615184	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:615184	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:615184	TCAP	8557	HP:0001653	Mitral regurgitation
OMIM:615184	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:615184	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:615184	CSRP3	8048	HP:0001653	Mitral regurgitation
OMIM:615184	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:615184	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:615184	RBM20	282996	HP:0001653	Mitral regurgitation
OMIM:615184	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:615184	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:615184	SDHA	6389	HP:0001653	Mitral regurgitation
OMIM:615184	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:615184	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:615184	TAZ	6901	HP:0001653	Mitral regurgitation
OMIM:615184	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:615184	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:615184	VCL	7414	HP:0001653	Mitral regurgitation
OMIM:615184	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:615184	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:615184	MYPN	84665	HP:0001653	Mitral regurgitation
OMIM:615184	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:615184	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:615184	SCN5A	6331	HP:0001653	Mitral regurgitation
OMIM:615184	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:615184	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:615184	BAG3	9531	HP:0001653	Mitral regurgitation
OMIM:615184	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:615184	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:615184	DOLK	22845	HP:0001653	Mitral regurgitation
OMIM:615184	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:615184	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:615184	MYBPC3	4607	HP:0001653	Mitral regurgitation
OMIM:607626	CLDN1	9076	HP:0000682	Abnormality of dental enamel
OMIM:607626	CLDN1	9076	HP:0001409	Portal hypertension
OMIM:607626	CLDN1	9076	HP:0009804	Reduced number of teeth
OMIM:607626	CLDN1	9076	HP:0000956	Acanthosis nigricans
OMIM:607626	CLDN1	9076	HP:0000007	Autosomal recessive inheritance
OMIM:607626	CLDN1	9076	HP:0008064	Ichthyosis
OMIM:607626	CLDN1	9076	HP:0000668	Hypodontia
OMIM:607626	CLDN1	9076	HP:0006297	Hypoplasia of dental enamel
OMIM:607626	CLDN1	9076	HP:0001596	Alopecia
OMIM:607626	CLDN1	9076	HP:0000952	Jaundice
OMIM:607626	CLDN1	9076	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:607626	CLDN1	9076	HP:0001744	Splenomegaly
OMIM:607626	CLDN1	9076	HP:0000653	Sparse eyelashes
OMIM:607626	CLDN1	9076	HP:0000499	Abnormality of the eyelashes
OMIM:607626	CLDN1	9076	HP:0002240	Hepatomegaly
OMIM:607626	CLDN1	9076	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:607626	CLDN1	9076	HP:0000958	Dry skin
OMIM:616469	RLBP1	6017	HP:0000613	Photophobia
OMIM:616469	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:616469	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:616469	RLBP1	6017	HP:0007663	Reduced visual acuity
OMIM:616469	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:616469	RLBP1	6017	HP:0007787	Posterior subcapsular cataract
OMIM:616469	SPATA7	55812	HP:0000613	Photophobia
OMIM:616469	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:616469	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:616469	SPATA7	55812	HP:0007663	Reduced visual acuity
OMIM:616469	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:616469	SPATA7	55812	HP:0007787	Posterior subcapsular cataract
OMIM:616469	ARL6	84100	HP:0000613	Photophobia
OMIM:616469	ARL6	84100	HP:0000662	Nyctalopia
OMIM:616469	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:616469	ARL6	84100	HP:0007663	Reduced visual acuity
OMIM:616469	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:616469	ARL6	84100	HP:0007787	Posterior subcapsular cataract
OMIM:616469	CERKL	375298	HP:0000613	Photophobia
OMIM:616469	CERKL	375298	HP:0000662	Nyctalopia
OMIM:616469	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:616469	CERKL	375298	HP:0007663	Reduced visual acuity
OMIM:616469	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:616469	CERKL	375298	HP:0007787	Posterior subcapsular cataract
OMIM:616469	PRPF31	26121	HP:0000613	Photophobia
OMIM:616469	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:616469	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:616469	PRPF31	26121	HP:0007663	Reduced visual acuity
OMIM:616469	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:616469	PRPF31	26121	HP:0007787	Posterior subcapsular cataract
OMIM:616469	TTC8	123016	HP:0000613	Photophobia
OMIM:616469	TTC8	123016	HP:0000662	Nyctalopia
OMIM:616469	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:616469	TTC8	123016	HP:0007663	Reduced visual acuity
OMIM:616469	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:616469	TTC8	123016	HP:0007787	Posterior subcapsular cataract
OMIM:616469	PROM1	8842	HP:0000613	Photophobia
OMIM:616469	PROM1	8842	HP:0000662	Nyctalopia
OMIM:616469	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:616469	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:616469	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:616469	PROM1	8842	HP:0007787	Posterior subcapsular cataract
OMIM:616469	LRAT	9227	HP:0000613	Photophobia
OMIM:616469	LRAT	9227	HP:0000662	Nyctalopia
OMIM:616469	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:616469	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:616469	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:616469	LRAT	9227	HP:0007787	Posterior subcapsular cataract
OMIM:616469	IFT140	9742	HP:0000613	Photophobia
OMIM:616469	IFT140	9742	HP:0000662	Nyctalopia
OMIM:616469	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:616469	IFT140	9742	HP:0007663	Reduced visual acuity
OMIM:616469	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:616469	IFT140	9742	HP:0007787	Posterior subcapsular cataract
OMIM:616469	BEST1	7439	HP:0000613	Photophobia
OMIM:616469	BEST1	7439	HP:0000662	Nyctalopia
OMIM:616469	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:616469	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:616469	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:616469	BEST1	7439	HP:0007787	Posterior subcapsular cataract
OMIM:616469	NEK2	4751	HP:0000613	Photophobia
OMIM:616469	NEK2	4751	HP:0000662	Nyctalopia
OMIM:616469	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:616469	NEK2	4751	HP:0007663	Reduced visual acuity
OMIM:616469	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:616469	NEK2	4751	HP:0007787	Posterior subcapsular cataract
OMIM:616469	ARL2BP	23568	HP:0000613	Photophobia
OMIM:616469	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:616469	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:616469	ARL2BP	23568	HP:0007663	Reduced visual acuity
OMIM:616469	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:616469	ARL2BP	23568	HP:0007787	Posterior subcapsular cataract
OMIM:616469	NR2E3	10002	HP:0000613	Photophobia
OMIM:616469	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:616469	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:616469	NR2E3	10002	HP:0007663	Reduced visual acuity
OMIM:616469	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:616469	NR2E3	10002	HP:0007787	Posterior subcapsular cataract
OMIM:616469	EYS	346007	HP:0000613	Photophobia
OMIM:616469	EYS	346007	HP:0000662	Nyctalopia
OMIM:616469	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:616469	EYS	346007	HP:0007663	Reduced visual acuity
OMIM:616469	EYS	346007	HP:0000543	Optic disc pallor
OMIM:616469	EYS	346007	HP:0007787	Posterior subcapsular cataract
OMIM:616469	MAK	4117	HP:0000613	Photophobia
OMIM:616469	MAK	4117	HP:0000662	Nyctalopia
OMIM:616469	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:616469	MAK	4117	HP:0007663	Reduced visual acuity
OMIM:616469	MAK	4117	HP:0000543	Optic disc pallor
OMIM:616469	MAK	4117	HP:0007787	Posterior subcapsular cataract
OMIM:616469	SAG	6295	HP:0000613	Photophobia
OMIM:616469	SAG	6295	HP:0000662	Nyctalopia
OMIM:616469	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:616469	SAG	6295	HP:0007663	Reduced visual acuity
OMIM:616469	SAG	6295	HP:0000543	Optic disc pallor
OMIM:616469	SAG	6295	HP:0007787	Posterior subcapsular cataract
OMIM:616469	ABCA4	24	HP:0000613	Photophobia
OMIM:616469	ABCA4	24	HP:0000662	Nyctalopia
OMIM:616469	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:616469	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:616469	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:616469	ABCA4	24	HP:0007787	Posterior subcapsular cataract
OMIM:616469	PDE6A	5145	HP:0000613	Photophobia
OMIM:616469	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:616469	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:616469	PDE6A	5145	HP:0007663	Reduced visual acuity
OMIM:616469	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:616469	PDE6A	5145	HP:0007787	Posterior subcapsular cataract
OMIM:616469	PDE6G	5148	HP:0000613	Photophobia
OMIM:616469	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:616469	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:616469	PDE6G	5148	HP:0007663	Reduced visual acuity
OMIM:616469	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:616469	PDE6G	5148	HP:0007787	Posterior subcapsular cataract
OMIM:616469	IMPDH1	3614	HP:0000613	Photophobia
OMIM:616469	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:616469	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:616469	IMPDH1	3614	HP:0007663	Reduced visual acuity
OMIM:616469	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:616469	IMPDH1	3614	HP:0007787	Posterior subcapsular cataract
OMIM:616469	OFD1	8481	HP:0000613	Photophobia
OMIM:616469	OFD1	8481	HP:0000662	Nyctalopia
OMIM:616469	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:616469	OFD1	8481	HP:0007663	Reduced visual acuity
OMIM:616469	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:616469	OFD1	8481	HP:0007787	Posterior subcapsular cataract
OMIM:616469	GUCA1B	2979	HP:0000613	Photophobia
OMIM:616469	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:616469	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:616469	GUCA1B	2979	HP:0007663	Reduced visual acuity
OMIM:616469	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:616469	GUCA1B	2979	HP:0007787	Posterior subcapsular cataract
OMIM:616469	NRL	4901	HP:0000613	Photophobia
OMIM:616469	NRL	4901	HP:0000662	Nyctalopia
OMIM:616469	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:616469	NRL	4901	HP:0007663	Reduced visual acuity
OMIM:616469	NRL	4901	HP:0000543	Optic disc pallor
OMIM:616469	NRL	4901	HP:0007787	Posterior subcapsular cataract
OMIM:616469	PDE6B	5158	HP:0000613	Photophobia
OMIM:616469	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:616469	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:616469	PDE6B	5158	HP:0007663	Reduced visual acuity
OMIM:616469	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:616469	PDE6B	5158	HP:0007787	Posterior subcapsular cataract
OMIM:616469	KLHL7	55975	HP:0000613	Photophobia
OMIM:616469	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:616469	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:616469	KLHL7	55975	HP:0007663	Reduced visual acuity
OMIM:616469	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:616469	KLHL7	55975	HP:0007787	Posterior subcapsular cataract
OMIM:616469	PRPF4	9128	HP:0000613	Photophobia
OMIM:616469	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:616469	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:616469	PRPF4	9128	HP:0007663	Reduced visual acuity
OMIM:616469	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:616469	PRPF4	9128	HP:0007787	Posterior subcapsular cataract
OMIM:616469	PRPF3	9129	HP:0000613	Photophobia
OMIM:616469	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:616469	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:616469	PRPF3	9129	HP:0007663	Reduced visual acuity
OMIM:616469	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:616469	PRPF3	9129	HP:0007787	Posterior subcapsular cataract
OMIM:616469	FAM161A	84140	HP:0000613	Photophobia
OMIM:616469	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:616469	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:616469	FAM161A	84140	HP:0007663	Reduced visual acuity
OMIM:616469	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:616469	FAM161A	84140	HP:0007787	Posterior subcapsular cataract
OMIM:616469	IFT172	26160	HP:0000613	Photophobia
OMIM:616469	IFT172	26160	HP:0000662	Nyctalopia
OMIM:616469	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:616469	IFT172	26160	HP:0007663	Reduced visual acuity
OMIM:616469	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:616469	IFT172	26160	HP:0007787	Posterior subcapsular cataract
OMIM:616469	KIZ	55857	HP:0000613	Photophobia
OMIM:616469	KIZ	55857	HP:0000662	Nyctalopia
OMIM:616469	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:616469	KIZ	55857	HP:0007663	Reduced visual acuity
OMIM:616469	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:616469	KIZ	55857	HP:0007787	Posterior subcapsular cataract
OMIM:616469	CDHR1	92211	HP:0000613	Photophobia
OMIM:616469	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:616469	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:616469	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:616469	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:616469	CDHR1	92211	HP:0007787	Posterior subcapsular cataract
OMIM:616469	ZNF408	79797	HP:0000613	Photophobia
OMIM:616469	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:616469	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:616469	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:616469	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:616469	ZNF408	79797	HP:0007787	Posterior subcapsular cataract
OMIM:616469	RBP3	5949	HP:0000613	Photophobia
OMIM:616469	RBP3	5949	HP:0000662	Nyctalopia
OMIM:616469	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:616469	RBP3	5949	HP:0007663	Reduced visual acuity
OMIM:616469	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:616469	RBP3	5949	HP:0007787	Posterior subcapsular cataract
OMIM:616469	HGSNAT	138050	HP:0000613	Photophobia
OMIM:616469	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:616469	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:616469	HGSNAT	138050	HP:0007663	Reduced visual acuity
OMIM:616469	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:616469	HGSNAT	138050	HP:0007787	Posterior subcapsular cataract
OMIM:616469	FSCN2	25794	HP:0000613	Photophobia
OMIM:616469	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:616469	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:616469	FSCN2	25794	HP:0007663	Reduced visual acuity
OMIM:616469	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:616469	FSCN2	25794	HP:0007787	Posterior subcapsular cataract
OMIM:616469	PRCD	768206	HP:0000613	Photophobia
OMIM:616469	PRCD	768206	HP:0000662	Nyctalopia
OMIM:616469	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:616469	PRCD	768206	HP:0007663	Reduced visual acuity
OMIM:616469	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:616469	PRCD	768206	HP:0007787	Posterior subcapsular cataract
OMIM:616469	BBS2	583	HP:0000613	Photophobia
OMIM:616469	BBS2	583	HP:0000662	Nyctalopia
OMIM:616469	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:616469	BBS2	583	HP:0007663	Reduced visual acuity
OMIM:616469	BBS2	583	HP:0000543	Optic disc pallor
OMIM:616469	BBS2	583	HP:0007787	Posterior subcapsular cataract
OMIM:616469	RDH12	145226	HP:0000613	Photophobia
OMIM:616469	RDH12	145226	HP:0000662	Nyctalopia
OMIM:616469	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:616469	RDH12	145226	HP:0007663	Reduced visual acuity
OMIM:616469	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:616469	RDH12	145226	HP:0007787	Posterior subcapsular cataract
OMIM:616469	PRPH2	5961	HP:0000613	Photophobia
OMIM:616469	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:616469	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:616469	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:616469	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:616469	PRPH2	5961	HP:0007787	Posterior subcapsular cataract
OMIM:616469	DHDDS	79947	HP:0000613	Photophobia
OMIM:616469	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:616469	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:616469	DHDDS	79947	HP:0007663	Reduced visual acuity
OMIM:616469	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:616469	DHDDS	79947	HP:0007787	Posterior subcapsular cataract
OMIM:616469	ROM1	6094	HP:0000613	Photophobia
OMIM:616469	ROM1	6094	HP:0000662	Nyctalopia
OMIM:616469	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:616469	ROM1	6094	HP:0007663	Reduced visual acuity
OMIM:616469	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:616469	ROM1	6094	HP:0007787	Posterior subcapsular cataract
OMIM:616469	C2ORF71	388939	HP:0000613	Photophobia
OMIM:616469	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:616469	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:616469	C2ORF71	388939	HP:0007663	Reduced visual acuity
OMIM:616469	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:616469	C2ORF71	388939	HP:0007787	Posterior subcapsular cataract
OMIM:616469	RP9	6100	HP:0000613	Photophobia
OMIM:616469	RP9	6100	HP:0000662	Nyctalopia
OMIM:616469	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:616469	RP9	6100	HP:0007663	Reduced visual acuity
OMIM:616469	RP9	6100	HP:0000543	Optic disc pallor
OMIM:616469	RP9	6100	HP:0007787	Posterior subcapsular cataract
OMIM:616469	PRPF6	24148	HP:0000613	Photophobia
OMIM:616469	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:616469	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:616469	PRPF6	24148	HP:0007663	Reduced visual acuity
OMIM:616469	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:616469	PRPF6	24148	HP:0007787	Posterior subcapsular cataract
OMIM:616469	RP1	6101	HP:0000613	Photophobia
OMIM:616469	RP1	6101	HP:0000662	Nyctalopia
OMIM:616469	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:616469	RP1	6101	HP:0007663	Reduced visual acuity
OMIM:616469	RP1	6101	HP:0000543	Optic disc pallor
OMIM:616469	RP1	6101	HP:0007787	Posterior subcapsular cataract
OMIM:616469	RP2	6102	HP:0000613	Photophobia
OMIM:616469	RP2	6102	HP:0000662	Nyctalopia
OMIM:616469	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:616469	RP2	6102	HP:0007663	Reduced visual acuity
OMIM:616469	RP2	6102	HP:0000543	Optic disc pallor
OMIM:616469	RP2	6102	HP:0007787	Posterior subcapsular cataract
OMIM:616469	RPGR	6103	HP:0000613	Photophobia
OMIM:616469	RPGR	6103	HP:0000662	Nyctalopia
OMIM:616469	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:616469	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:616469	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:616469	RPGR	6103	HP:0007787	Posterior subcapsular cataract
OMIM:616469	SEMA4A	64218	HP:0000613	Photophobia
OMIM:616469	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:616469	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:616469	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:616469	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:616469	SEMA4A	64218	HP:0007787	Posterior subcapsular cataract
OMIM:616469	C8ORF37	157657	HP:0000613	Photophobia
OMIM:616469	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:616469	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:616469	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:616469	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:616469	C8ORF37	157657	HP:0007787	Posterior subcapsular cataract
OMIM:616469	IDH3B	3420	HP:0000613	Photophobia
OMIM:616469	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:616469	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:616469	IDH3B	3420	HP:0007663	Reduced visual acuity
OMIM:616469	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:616469	IDH3B	3420	HP:0007787	Posterior subcapsular cataract
OMIM:616469	MERTK	10461	HP:0000613	Photophobia
OMIM:616469	MERTK	10461	HP:0000662	Nyctalopia
OMIM:616469	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:616469	MERTK	10461	HP:0007663	Reduced visual acuity
OMIM:616469	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:616469	MERTK	10461	HP:0007787	Posterior subcapsular cataract
OMIM:616469	PRPF8	10594	HP:0000613	Photophobia
OMIM:616469	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:616469	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:616469	PRPF8	10594	HP:0007663	Reduced visual acuity
OMIM:616469	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:616469	PRPF8	10594	HP:0007787	Posterior subcapsular cataract
OMIM:616469	TOPORS	10210	HP:0000613	Photophobia
OMIM:616469	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:616469	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:616469	TOPORS	10210	HP:0007663	Reduced visual acuity
OMIM:616469	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:616469	TOPORS	10210	HP:0007787	Posterior subcapsular cataract
OMIM:616469	USH2A	7399	HP:0000613	Photophobia
OMIM:616469	USH2A	7399	HP:0000662	Nyctalopia
OMIM:616469	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:616469	USH2A	7399	HP:0007663	Reduced visual acuity
OMIM:616469	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:616469	USH2A	7399	HP:0007787	Posterior subcapsular cataract
OMIM:616469	RPE65	6121	HP:0000613	Photophobia
OMIM:616469	RPE65	6121	HP:0000662	Nyctalopia
OMIM:616469	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:616469	RPE65	6121	HP:0007663	Reduced visual acuity
OMIM:616469	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:616469	RPE65	6121	HP:0007787	Posterior subcapsular cataract
OMIM:616469	CLRN1	7401	HP:0000613	Photophobia
OMIM:616469	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:616469	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:616469	CLRN1	7401	HP:0007663	Reduced visual acuity
OMIM:616469	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:616469	CLRN1	7401	HP:0007787	Posterior subcapsular cataract
OMIM:616469	CNGB1	1258	HP:0000613	Photophobia
OMIM:616469	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:616469	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:616469	CNGB1	1258	HP:0007663	Reduced visual acuity
OMIM:616469	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:616469	CNGB1	1258	HP:0007787	Posterior subcapsular cataract
OMIM:616469	RGR	5995	HP:0000613	Photophobia
OMIM:616469	RGR	5995	HP:0000662	Nyctalopia
OMIM:616469	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:616469	RGR	5995	HP:0007663	Reduced visual acuity
OMIM:616469	RGR	5995	HP:0000543	Optic disc pallor
OMIM:616469	RGR	5995	HP:0007787	Posterior subcapsular cataract
OMIM:616469	CNGA1	1259	HP:0000613	Photophobia
OMIM:616469	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:616469	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:616469	CNGA1	1259	HP:0007663	Reduced visual acuity
OMIM:616469	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:616469	CNGA1	1259	HP:0007787	Posterior subcapsular cataract
OMIM:616469	TUB	7275	HP:0000613	Photophobia
OMIM:616469	TUB	7275	HP:0000662	Nyctalopia
OMIM:616469	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:616469	TUB	7275	HP:0007663	Reduced visual acuity
OMIM:616469	TUB	7275	HP:0000543	Optic disc pallor
OMIM:616469	TUB	7275	HP:0007787	Posterior subcapsular cataract
OMIM:616469	SNRNP200	23020	HP:0000613	Photophobia
OMIM:616469	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:616469	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:616469	SNRNP200	23020	HP:0007663	Reduced visual acuity
OMIM:616469	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:616469	SNRNP200	23020	HP:0007787	Posterior subcapsular cataract
OMIM:616469	SLC7A14	57709	HP:0000613	Photophobia
OMIM:616469	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:616469	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:616469	SLC7A14	57709	HP:0007663	Reduced visual acuity
OMIM:616469	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:616469	SLC7A14	57709	HP:0007787	Posterior subcapsular cataract
OMIM:616469	TULP1	7287	HP:0000613	Photophobia
OMIM:616469	TULP1	7287	HP:0000662	Nyctalopia
OMIM:616469	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:616469	TULP1	7287	HP:0007663	Reduced visual acuity
OMIM:616469	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:616469	TULP1	7287	HP:0007787	Posterior subcapsular cataract
OMIM:616469	RHO	6010	HP:0000613	Photophobia
OMIM:616469	RHO	6010	HP:0000662	Nyctalopia
OMIM:616469	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:616469	RHO	6010	HP:0007663	Reduced visual acuity
OMIM:616469	RHO	6010	HP:0000543	Optic disc pallor
OMIM:616469	RHO	6010	HP:0007787	Posterior subcapsular cataract
OMIM:616469	CA4	762	HP:0000613	Photophobia
OMIM:616469	CA4	762	HP:0000662	Nyctalopia
OMIM:616469	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:616469	CA4	762	HP:0007663	Reduced visual acuity
OMIM:616469	CA4	762	HP:0000543	Optic disc pallor
OMIM:616469	CA4	762	HP:0007787	Posterior subcapsular cataract
OMIM:616469	CRB1	23418	HP:0000613	Photophobia
OMIM:616469	CRB1	23418	HP:0000662	Nyctalopia
OMIM:616469	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:616469	CRB1	23418	HP:0007663	Reduced visual acuity
OMIM:616469	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:616469	CRB1	23418	HP:0007787	Posterior subcapsular cataract
OMIM:616469	IMPG2	50939	HP:0000613	Photophobia
OMIM:616469	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:616469	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:616469	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:616469	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:616469	IMPG2	50939	HP:0007787	Posterior subcapsular cataract
OMIM:616469	ZNF513	130557	HP:0000613	Photophobia
OMIM:616469	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:616469	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:616469	ZNF513	130557	HP:0007663	Reduced visual acuity
OMIM:616469	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:616469	ZNF513	130557	HP:0007787	Posterior subcapsular cataract
OMIM:616469	CRX	1406	HP:0000613	Photophobia
OMIM:616469	CRX	1406	HP:0000662	Nyctalopia
OMIM:616469	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:616469	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:616469	CRX	1406	HP:0000543	Optic disc pallor
OMIM:616469	CRX	1406	HP:0007787	Posterior subcapsular cataract
OMIM:602247	APOB	338	HP:0003124	Hypercholesterolemia
OMIM:602247	APOB	338	HP:0000991	Xanthomatosis
OMIM:602247	LDLRAP1	26119	HP:0003124	Hypercholesterolemia
OMIM:602247	LDLRAP1	26119	HP:0000991	Xanthomatosis
OMIM:602247	PCSK9	255738	HP:0003124	Hypercholesterolemia
OMIM:602247	PCSK9	255738	HP:0000991	Xanthomatosis
OMIM:602247	LDLR	3949	HP:0003124	Hypercholesterolemia
OMIM:602247	LDLR	3949	HP:0000991	Xanthomatosis
OMIM:600165	MFRP	83552	HP:0000006	Autosomal dominant inheritance
OMIM:600165	TMEM98	26022	HP:0000006	Autosomal dominant inheritance
OMIM:614674	HTR1A	3350	HP:0000006	Autosomal dominant inheritance
OMIM:614674	HTR1A	3350	HP:0001945	Fever
OMIM:616339	AARS	16	HP:0001257	Spasticity
OMIM:616339	AARS	16	HP:0000252	Microcephaly
OMIM:616339	AARS	16	HP:0001252	Muscular hypotonia
OMIM:616339	AARS	16	HP:0001263	Global developmental delay
OMIM:616339	AARS	16	HP:0001508	Failure to thrive
OMIM:616339	AARS	16	HP:0000639	Nystagmus
OMIM:616339	AARS	16	HP:0003429	CNS hypomyelination
OMIM:616339	AARS	16	HP:0009830	Peripheral neuropathy
OMIM:616339	AARS	16	HP:0001298	Encephalopathy
OMIM:616339	AARS	16	HP:0002072	Chorea
OMIM:616339	AARS	16	HP:0001284	Areflexia
OMIM:616339	AARS	16	HP:0002059	Cerebral atrophy
OMIM:616339	AARS	16	HP:0004322	Short stature
OMIM:616339	AARS	16	HP:0000643	Blepharospasm
OMIM:616339	AARS	16	HP:0002827	Hip dislocation
OMIM:616339	AARS	16	HP:0001511	Intrauterine growth retardation
OMIM:605309	PTEN	5728	HP:0001513	Obesity
OMIM:605309	PTEN	5728	HP:0001263	Global developmental delay
OMIM:605309	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:605309	PTEN	5728	HP:0000717	Autism
OMIM:605309	PTEN	5728	HP:0003196	Short nose
OMIM:605309	PTEN	5728	HP:0005280	Depressed nasal bridge
OMIM:605309	PTEN	5728	HP:0000337	Broad forehead
OMIM:605309	PTEN	5728	HP:0000343	Long philtrum
OMIM:605309	PTEN	5728	HP:0002007	Frontal bossing
OMIM:211900	KL	9365	HP:0003621	Juvenile onset
OMIM:211900	KL	9365	HP:0000121	Nephrocalcinosis
OMIM:211900	KL	9365	HP:0006297	Hypoplasia of dental enamel
OMIM:211900	KL	9365	HP:0003771	Pulp stones
OMIM:211900	KL	9365	HP:0000007	Autosomal recessive inheritance
OMIM:211900	KL	9365	HP:0001102	Angioid streaks of the retina
OMIM:211900	KL	9365	HP:0000679	Taurodontia
OMIM:211900	KL	9365	HP:0004934	Vascular calcification
OMIM:211900	KL	9365	HP:0005571	Increased renal tubular phosphate reabsorption
OMIM:211900	KL	9365	HP:0003761	Calcinosis
OMIM:211900	KL	9365	HP:0005572	Decreased renal tubular phosphate excretion
OMIM:211900	KL	9365	HP:0000951	Abnormality of the skin
OMIM:211900	KL	9365	HP:0002905	Hyperphosphatemia
OMIM:211900	KL	9365	HP:0007799	Conjunctival whitish salt-like deposits
OMIM:211900	FGF23	8074	HP:0003621	Juvenile onset
OMIM:211900	FGF23	8074	HP:0000121	Nephrocalcinosis
OMIM:211900	FGF23	8074	HP:0006297	Hypoplasia of dental enamel
OMIM:211900	FGF23	8074	HP:0003771	Pulp stones
OMIM:211900	FGF23	8074	HP:0000007	Autosomal recessive inheritance
OMIM:211900	FGF23	8074	HP:0001102	Angioid streaks of the retina
OMIM:211900	FGF23	8074	HP:0000679	Taurodontia
OMIM:211900	FGF23	8074	HP:0004934	Vascular calcification
OMIM:211900	FGF23	8074	HP:0005571	Increased renal tubular phosphate reabsorption
OMIM:211900	FGF23	8074	HP:0003761	Calcinosis
OMIM:211900	FGF23	8074	HP:0005572	Decreased renal tubular phosphate excretion
OMIM:211900	FGF23	8074	HP:0000951	Abnormality of the skin
OMIM:211900	FGF23	8074	HP:0002905	Hyperphosphatemia
OMIM:211900	FGF23	8074	HP:0007799	Conjunctival whitish salt-like deposits
OMIM:211900	GALNT3	2591	HP:0003621	Juvenile onset
OMIM:211900	GALNT3	2591	HP:0000121	Nephrocalcinosis
OMIM:211900	GALNT3	2591	HP:0006297	Hypoplasia of dental enamel
OMIM:211900	GALNT3	2591	HP:0003771	Pulp stones
OMIM:211900	GALNT3	2591	HP:0000007	Autosomal recessive inheritance
OMIM:211900	GALNT3	2591	HP:0001102	Angioid streaks of the retina
OMIM:211900	GALNT3	2591	HP:0000679	Taurodontia
OMIM:211900	GALNT3	2591	HP:0004934	Vascular calcification
OMIM:211900	GALNT3	2591	HP:0005571	Increased renal tubular phosphate reabsorption
OMIM:211900	GALNT3	2591	HP:0003761	Calcinosis
OMIM:211900	GALNT3	2591	HP:0005572	Decreased renal tubular phosphate excretion
OMIM:211900	GALNT3	2591	HP:0000951	Abnormality of the skin
OMIM:211900	GALNT3	2591	HP:0002905	Hyperphosphatemia
OMIM:211900	GALNT3	2591	HP:0007799	Conjunctival whitish salt-like deposits
OMIM:202300	TP53	7157	HP:0000007	Autosomal recessive inheritance
OMIM:137760	OPTN	10133	HP:0000006	Autosomal dominant inheritance
OMIM:137760	OPTN	10133	HP:0000545	Myopia
OMIM:607346	KCND3	3752	HP:0000006	Autosomal dominant inheritance
OMIM:607346	KCND3	3752	HP:0001265	Hyporeflexia
OMIM:607346	KCND3	3752	HP:0001272	Cerebellar atrophy
OMIM:607346	KCND3	3752	HP:0001336	Myoclonus
OMIM:607346	KCND3	3752	HP:0002066	Gait ataxia
OMIM:607346	KCND3	3752	HP:0001347	Hyperreflexia
OMIM:607346	KCND3	3752	HP:0100543	Cognitive impairment
OMIM:607346	KCND3	3752	HP:0002015	Dysphagia
OMIM:607346	KCND3	3752	HP:0003677	Slow progression
OMIM:607346	KCND3	3752	HP:0002070	Limb ataxia
OMIM:607346	KCND3	3752	HP:0002078	Truncal ataxia
OMIM:607346	KCND3	3752	HP:0001260	Dysarthria
OMIM:613694	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:613694	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:613694	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:613694	TPM1	7168	HP:0001279	Syncope
OMIM:613694	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:613694	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:613694	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:613694	CRYAB	1410	HP:0001279	Syncope
OMIM:613694	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613694	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:613694	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:613694	ACTC1	70	HP:0001279	Syncope
OMIM:613694	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:613694	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:613694	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:613694	RAF1	5894	HP:0001279	Syncope
OMIM:613694	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613694	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:613694	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:613694	GATAD1	57798	HP:0001279	Syncope
OMIM:613694	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:613694	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:613694	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:613694	LAMA4	3910	HP:0001279	Syncope
OMIM:613694	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613694	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:613694	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:613694	TMPO	7112	HP:0001279	Syncope
OMIM:613694	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:613694	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:613694	DES	1674	HP:0001635	Congestive heart failure
OMIM:613694	DES	1674	HP:0001279	Syncope
OMIM:613694	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:613694	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:613694	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:613694	ABCC9	10060	HP:0001279	Syncope
OMIM:613694	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:613694	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:613694	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:613694	MYH6	4624	HP:0001279	Syncope
OMIM:613694	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613694	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:613694	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:613694	MYH7	4625	HP:0001279	Syncope
OMIM:613694	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:613694	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:613694	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:613694	LDB3	11155	HP:0001279	Syncope
OMIM:613694	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:613694	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:613694	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:613694	ACTN2	88	HP:0001279	Syncope
OMIM:613694	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:613694	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:613694	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:613694	TXNRD2	10587	HP:0001279	Syncope
OMIM:613694	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:613694	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:613694	DMD	1756	HP:0001635	Congestive heart failure
OMIM:613694	DMD	1756	HP:0001279	Syncope
OMIM:613694	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:613694	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:613694	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:613694	TNNC1	7134	HP:0001279	Syncope
OMIM:613694	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613694	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:613694	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:613694	PSEN1	5663	HP:0001279	Syncope
OMIM:613694	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:613694	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:613694	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:613694	PSEN2	5664	HP:0001279	Syncope
OMIM:613694	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:613694	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:613694	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:613694	TNNI3	7137	HP:0001279	Syncope
OMIM:613694	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:613694	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:613694	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:613694	FHL2	2274	HP:0001279	Syncope
OMIM:613694	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:613694	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:613694	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:613694	TNNT2	7139	HP:0001279	Syncope
OMIM:613694	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:613694	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:613694	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:613694	DSG2	1829	HP:0001279	Syncope
OMIM:613694	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:613694	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:613694	PLN	5350	HP:0001635	Congestive heart failure
OMIM:613694	PLN	5350	HP:0001279	Syncope
OMIM:613694	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:613694	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:613694	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:613694	PRDM16	63976	HP:0001279	Syncope
OMIM:613694	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613694	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:613694	TTN	7273	HP:0001635	Congestive heart failure
OMIM:613694	TTN	7273	HP:0001279	Syncope
OMIM:613694	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:613694	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:613694	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:613694	NEXN	91624	HP:0001279	Syncope
OMIM:613694	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:613694	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:613694	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:613694	FKTN	2218	HP:0001279	Syncope
OMIM:613694	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:613694	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:613694	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:613694	SGCD	6444	HP:0001279	Syncope
OMIM:613694	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:613694	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:613694	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:613694	TCAP	8557	HP:0001279	Syncope
OMIM:613694	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:613694	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:613694	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:613694	CSRP3	8048	HP:0001279	Syncope
OMIM:613694	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:613694	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:613694	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:613694	RBM20	282996	HP:0001279	Syncope
OMIM:613694	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:613694	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:613694	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:613694	SDHA	6389	HP:0001279	Syncope
OMIM:613694	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:613694	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:613694	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:613694	TAZ	6901	HP:0001279	Syncope
OMIM:613694	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:613694	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:613694	VCL	7414	HP:0001635	Congestive heart failure
OMIM:613694	VCL	7414	HP:0001279	Syncope
OMIM:613694	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:613694	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:613694	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:613694	MYPN	84665	HP:0001279	Syncope
OMIM:613694	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:613694	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613694	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:613694	SCN5A	6331	HP:0001279	Syncope
OMIM:613694	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:613694	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:613694	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:613694	BAG3	9531	HP:0001279	Syncope
OMIM:613694	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:613694	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:613694	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:613694	DOLK	22845	HP:0001279	Syncope
OMIM:613694	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:613694	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:613694	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:613694	MYBPC3	4607	HP:0001279	Syncope
OMIM:229700	FBP1	2203	HP:0002094	Dyspnea
OMIM:229700	FBP1	2203	HP:0000007	Autosomal recessive inheritance
OMIM:229700	FBP1	2203	HP:0000737	Irritability
OMIM:229700	FBP1	2203	HP:0002104	Apnea
OMIM:229700	FBP1	2203	HP:0001946	Ketosis
OMIM:229700	FBP1	2203	HP:0001943	Hypoglycemia
OMIM:229700	FBP1	2203	HP:0001259	Coma
OMIM:229700	FBP1	2203	HP:0001254	Lethargy
OMIM:229700	FBP1	2203	HP:0001649	Tachycardia
OMIM:229700	FBP1	2203	HP:0001942	Metabolic acidosis
OMIM:229700	FBP1	2203	HP:0001252	Muscular hypotonia
OMIM:229700	FBP1	2203	HP:0002240	Hepatomegaly
OMIM:229700	FBP1	2203	HP:0001250	Seizures
OMIM:229700	FBP1	2203	HP:0001945	Fever
OMIM:229700	FBP1	2203	HP:0002883	Hyperventilation
OMIM:607907	PDGFB	5155	HP:0200042	Skin ulcer
OMIM:607907	PDGFB	5155	HP:0008069	Neoplasm of the skin
OMIM:607907	PDGFB	5155	HP:0100242	Sarcoma
OMIM:607907	PDGFB	5155	HP:0001072	Thickened skin
OMIM:607907	COL1A1	1277	HP:0200042	Skin ulcer
OMIM:607907	COL1A1	1277	HP:0008069	Neoplasm of the skin
OMIM:607907	COL1A1	1277	HP:0100242	Sarcoma
OMIM:607907	COL1A1	1277	HP:0001072	Thickened skin
OMIM:615745	SCN5A	6331	HP:0001638	Cardiomyopathy
OMIM:615745	SCN5A	6331	HP:0001662	Bradycardia
OMIM:615745	NPPA	4878	HP:0001638	Cardiomyopathy
OMIM:615745	NPPA	4878	HP:0001662	Bradycardia
OMIM:306950	GATA6	2627	HP:0000776	Congenital diaphragmatic hernia
OMIM:306950	ZFPM2	23414	HP:0000776	Congenital diaphragmatic hernia
OMIM:615122	ITK	3702	HP:0002665	Lymphoma
OMIM:615122	ITK	3702	HP:0003828	Variable expressivity
OMIM:615122	ITK	3702	HP:0001744	Splenomegaly
OMIM:615122	ITK	3702	HP:0001915	Aplastic anemia
OMIM:615122	ITK	3702	HP:0000007	Autosomal recessive inheritance
OMIM:615122	ITK	3702	HP:0002240	Hepatomegaly
OMIM:615122	ITK	3702	HP:0002716	Lymphadenopathy
OMIM:615122	ITK	3702	HP:0001541	Ascites
OMIM:615122	ITK	3702	HP:0001945	Fever
OMIM:615122	ITK	3702	HP:0004313	Decreased antibody level in blood
OMIM:615122	CD27	939	HP:0002665	Lymphoma
OMIM:615122	CD27	939	HP:0003828	Variable expressivity
OMIM:615122	CD27	939	HP:0001744	Splenomegaly
OMIM:615122	CD27	939	HP:0001915	Aplastic anemia
OMIM:615122	CD27	939	HP:0000007	Autosomal recessive inheritance
OMIM:615122	CD27	939	HP:0002240	Hepatomegaly
OMIM:615122	CD27	939	HP:0002716	Lymphadenopathy
OMIM:615122	CD27	939	HP:0001541	Ascites
OMIM:615122	CD27	939	HP:0001945	Fever
OMIM:615122	CD27	939	HP:0004313	Decreased antibody level in blood
OMIM:612281	ALOXE3	59344	HP:0000966	Hypohidrosis
OMIM:612281	ALOXE3	59344	HP:0000007	Autosomal recessive inheritance
OMIM:612281	ALOXE3	59344	HP:0001019	Erythroderma
OMIM:612281	ALOXE3	59344	HP:0000982	Palmoplantar keratoderma
OMIM:612281	ALOX12B	242	HP:0000966	Hypohidrosis
OMIM:612281	ALOX12B	242	HP:0000007	Autosomal recessive inheritance
OMIM:612281	ALOX12B	242	HP:0001019	Erythroderma
OMIM:612281	ALOX12B	242	HP:0000982	Palmoplantar keratoderma
OMIM:612281	LIPN	643418	HP:0000966	Hypohidrosis
OMIM:612281	LIPN	643418	HP:0000007	Autosomal recessive inheritance
OMIM:612281	LIPN	643418	HP:0001019	Erythroderma
OMIM:612281	LIPN	643418	HP:0000982	Palmoplantar keratoderma
OMIM:612281	CERS3	204219	HP:0000966	Hypohidrosis
OMIM:612281	CERS3	204219	HP:0000007	Autosomal recessive inheritance
OMIM:612281	CERS3	204219	HP:0001019	Erythroderma
OMIM:612281	CERS3	204219	HP:0000982	Palmoplantar keratoderma
OMIM:612281	ABCA12	26154	HP:0000966	Hypohidrosis
OMIM:612281	ABCA12	26154	HP:0000007	Autosomal recessive inheritance
OMIM:612281	ABCA12	26154	HP:0001019	Erythroderma
OMIM:612281	ABCA12	26154	HP:0000982	Palmoplantar keratoderma
OMIM:612281	TGM1	7051	HP:0000966	Hypohidrosis
OMIM:612281	TGM1	7051	HP:0000007	Autosomal recessive inheritance
OMIM:612281	TGM1	7051	HP:0001019	Erythroderma
OMIM:612281	TGM1	7051	HP:0000982	Palmoplantar keratoderma
OMIM:612281	CYP4F22	126410	HP:0000966	Hypohidrosis
OMIM:612281	CYP4F22	126410	HP:0000007	Autosomal recessive inheritance
OMIM:612281	CYP4F22	126410	HP:0001019	Erythroderma
OMIM:612281	CYP4F22	126410	HP:0000982	Palmoplantar keratoderma
OMIM:612281	PNPLA1	285848	HP:0000966	Hypohidrosis
OMIM:612281	PNPLA1	285848	HP:0000007	Autosomal recessive inheritance
OMIM:612281	PNPLA1	285848	HP:0001019	Erythroderma
OMIM:612281	PNPLA1	285848	HP:0000982	Palmoplantar keratoderma
OMIM:612281	NIPAL4	348938	HP:0000966	Hypohidrosis
OMIM:612281	NIPAL4	348938	HP:0000007	Autosomal recessive inheritance
OMIM:612281	NIPAL4	348938	HP:0001019	Erythroderma
OMIM:612281	NIPAL4	348938	HP:0000982	Palmoplantar keratoderma
OMIM:609533	MSRB3	253827	HP:0000407	Sensorineural hearing impairment
OMIM:609533	MSRB3	253827	HP:0003593	Infantile onset
OMIM:609533	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:609533	BSND	7809	HP:0000407	Sensorineural hearing impairment
OMIM:609533	BSND	7809	HP:0003593	Infantile onset
OMIM:609533	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:609533	ESPN	83715	HP:0000407	Sensorineural hearing impairment
OMIM:609533	ESPN	83715	HP:0003593	Infantile onset
OMIM:609533	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:609533	DFNB31	25861	HP:0000407	Sensorineural hearing impairment
OMIM:609533	DFNB31	25861	HP:0003593	Infantile onset
OMIM:609533	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:609533	OTOA	146183	HP:0000407	Sensorineural hearing impairment
OMIM:609533	OTOA	146183	HP:0003593	Infantile onset
OMIM:609533	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:609533	GJA1	2697	HP:0000407	Sensorineural hearing impairment
OMIM:609533	GJA1	2697	HP:0003593	Infantile onset
OMIM:609533	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:609533	MET	4233	HP:0000407	Sensorineural hearing impairment
OMIM:609533	MET	4233	HP:0003593	Infantile onset
OMIM:609533	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:609533	CLDN14	23562	HP:0000407	Sensorineural hearing impairment
OMIM:609533	CLDN14	23562	HP:0003593	Infantile onset
OMIM:609533	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:609533	HGF	3082	HP:0000407	Sensorineural hearing impairment
OMIM:609533	HGF	3082	HP:0003593	Infantile onset
OMIM:609533	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:609533	PNPT1	87178	HP:0000407	Sensorineural hearing impairment
OMIM:609533	PNPT1	87178	HP:0003593	Infantile onset
OMIM:609533	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:609533	EPS8	2059	HP:0000407	Sensorineural hearing impairment
OMIM:609533	EPS8	2059	HP:0003593	Infantile onset
OMIM:609533	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:609533	MYO3A	53904	HP:0000407	Sensorineural hearing impairment
OMIM:609533	MYO3A	53904	HP:0003593	Infantile onset
OMIM:609533	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:609533	DCDC2	51473	HP:0000407	Sensorineural hearing impairment
OMIM:609533	DCDC2	51473	HP:0003593	Infantile onset
OMIM:609533	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:609533	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:609533	GJB2	2706	HP:0003593	Infantile onset
OMIM:609533	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:609533	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:609533	GJB3	2707	HP:0003593	Infantile onset
OMIM:609533	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:609533	CABP2	51475	HP:0000407	Sensorineural hearing impairment
OMIM:609533	CABP2	51475	HP:0003593	Infantile onset
OMIM:609533	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:609533	GRXCR2	643226	HP:0000407	Sensorineural hearing impairment
OMIM:609533	GRXCR2	643226	HP:0003593	Infantile onset
OMIM:609533	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:609533	SERPINB6	5269	HP:0000407	Sensorineural hearing impairment
OMIM:609533	SERPINB6	5269	HP:0003593	Infantile onset
OMIM:609533	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:609533	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:609533	COL11A2	1302	HP:0003593	Infantile onset
OMIM:609533	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:609533	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:609533	CIB2	10518	HP:0003593	Infantile onset
OMIM:609533	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:609533	FAM65B	9750	HP:0000407	Sensorineural hearing impairment
OMIM:609533	FAM65B	9750	HP:0003593	Infantile onset
OMIM:609533	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:609533	KARS	3735	HP:0000407	Sensorineural hearing impairment
OMIM:609533	KARS	3735	HP:0003593	Infantile onset
OMIM:609533	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:609533	LOXHD1	125336	HP:0000407	Sensorineural hearing impairment
OMIM:609533	LOXHD1	125336	HP:0003593	Infantile onset
OMIM:609533	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:609533	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:609533	TMC1	117531	HP:0003593	Infantile onset
OMIM:609533	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:609533	CLIC5	53405	HP:0000407	Sensorineural hearing impairment
OMIM:609533	CLIC5	53405	HP:0003593	Infantile onset
OMIM:609533	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:609533	OTOF	9381	HP:0000407	Sensorineural hearing impairment
OMIM:609533	OTOF	9381	HP:0003593	Infantile onset
OMIM:609533	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:609533	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:609533	MYO6	4646	HP:0003593	Infantile onset
OMIM:609533	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:609533	TMIE	259236	HP:0000407	Sensorineural hearing impairment
OMIM:609533	TMIE	259236	HP:0003593	Infantile onset
OMIM:609533	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:609533	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:609533	MYO7A	4647	HP:0003593	Infantile onset
OMIM:609533	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:609533	LRTOMT	220074	HP:0000407	Sensorineural hearing impairment
OMIM:609533	LRTOMT	220074	HP:0003593	Infantile onset
OMIM:609533	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:609533	OTOGL	283310	HP:0000407	Sensorineural hearing impairment
OMIM:609533	OTOGL	283310	HP:0003593	Infantile onset
OMIM:609533	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:609533	TPRN	286262	HP:0000407	Sensorineural hearing impairment
OMIM:609533	TPRN	286262	HP:0003593	Infantile onset
OMIM:609533	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:609533	SLC26A4	5172	HP:0000407	Sensorineural hearing impairment
OMIM:609533	SLC26A4	5172	HP:0003593	Infantile onset
OMIM:609533	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:609533	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:609533	GJB6	10804	HP:0003593	Infantile onset
OMIM:609533	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:609533	DFNB59	494513	HP:0000407	Sensorineural hearing impairment
OMIM:609533	DFNB59	494513	HP:0003593	Infantile onset
OMIM:609533	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:609533	ESRRB	2103	HP:0000407	Sensorineural hearing impairment
OMIM:609533	ESRRB	2103	HP:0003593	Infantile onset
OMIM:609533	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:609533	TMPRSS3	64699	HP:0000407	Sensorineural hearing impairment
OMIM:609533	TMPRSS3	64699	HP:0003593	Infantile onset
OMIM:609533	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:609533	PTPRQ	374462	HP:0000407	Sensorineural hearing impairment
OMIM:609533	PTPRQ	374462	HP:0003593	Infantile onset
OMIM:609533	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:609533	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:609533	SLC26A5	375611	HP:0003593	Infantile onset
OMIM:609533	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:609533	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:609533	PCDH15	65217	HP:0003593	Infantile onset
OMIM:609533	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:609533	TSPEAR	54084	HP:0000407	Sensorineural hearing impairment
OMIM:609533	TSPEAR	54084	HP:0003593	Infantile onset
OMIM:609533	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:609533	LHFPL5	222662	HP:0000407	Sensorineural hearing impairment
OMIM:609533	LHFPL5	222662	HP:0003593	Infantile onset
OMIM:609533	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:609533	TRIOBP	11078	HP:0000407	Sensorineural hearing impairment
OMIM:609533	TRIOBP	11078	HP:0003593	Infantile onset
OMIM:609533	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:609533	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:609533	CDH23	64072	HP:0003593	Infantile onset
OMIM:609533	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:609533	RDX	5962	HP:0000407	Sensorineural hearing impairment
OMIM:609533	RDX	5962	HP:0003593	Infantile onset
OMIM:609533	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:609533	GPSM2	29899	HP:0000407	Sensorineural hearing impairment
OMIM:609533	GPSM2	29899	HP:0003593	Infantile onset
OMIM:609533	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:609533	ELMOD3	84173	HP:0000407	Sensorineural hearing impairment
OMIM:609533	ELMOD3	84173	HP:0003593	Infantile onset
OMIM:609533	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:609533	ILDR1	286676	HP:0000407	Sensorineural hearing impairment
OMIM:609533	ILDR1	286676	HP:0003593	Infantile onset
OMIM:609533	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:609533	GRXCR1	389207	HP:0000407	Sensorineural hearing impairment
OMIM:609533	GRXCR1	389207	HP:0003593	Infantile onset
OMIM:609533	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:609533	MARVELD2	153562	HP:0000407	Sensorineural hearing impairment
OMIM:609533	MARVELD2	153562	HP:0003593	Infantile onset
OMIM:609533	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:609533	STRC	161497	HP:0000407	Sensorineural hearing impairment
OMIM:609533	STRC	161497	HP:0003593	Infantile onset
OMIM:609533	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:609533	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:609533	SLITRK6	84189	HP:0003593	Infantile onset
OMIM:609533	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:609533	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:609533	TECTA	7007	HP:0003593	Infantile onset
OMIM:609533	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:609533	MYO15A	51168	HP:0000407	Sensorineural hearing impairment
OMIM:609533	MYO15A	51168	HP:0003593	Infantile onset
OMIM:609533	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:609533	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:609533	USH1C	10083	HP:0003593	Infantile onset
OMIM:609533	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:609533	ADCY1	107	HP:0000407	Sensorineural hearing impairment
OMIM:609533	ADCY1	107	HP:0003593	Infantile onset
OMIM:609533	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:609533	SYNE4	163183	HP:0000407	Sensorineural hearing impairment
OMIM:609533	SYNE4	163183	HP:0003593	Infantile onset
OMIM:609533	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:609533	GIPC3	126326	HP:0000407	Sensorineural hearing impairment
OMIM:609533	GIPC3	126326	HP:0003593	Infantile onset
OMIM:609533	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:609533	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:609533	TBC1D24	57465	HP:0003593	Infantile onset
OMIM:609533	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:609533	OTOG	340990	HP:0000407	Sensorineural hearing impairment
OMIM:609533	OTOG	340990	HP:0003593	Infantile onset
OMIM:609533	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:213200	PMPCA	23203	HP:0007513	Generalized hypopigmentation
OMIM:213200	PMPCA	23203	HP:0003593	Infantile onset
OMIM:213200	PMPCA	23203	HP:0100543	Cognitive impairment
OMIM:213200	PMPCA	23203	HP:0004322	Short stature
OMIM:213200	PMPCA	23203	HP:0001347	Hyperreflexia
OMIM:213200	PMPCA	23203	HP:0002317	Unsteady gait
OMIM:213200	PMPCA	23203	HP:0002650	Scoliosis
OMIM:213200	PMPCA	23203	HP:0001251	Ataxia
OMIM:213200	PMPCA	23203	HP:0001252	Muscular hypotonia
OMIM:213200	PMPCA	23203	HP:0002024	Malabsorption
OMIM:213200	PMPCA	23203	HP:0000708	Behavioral abnormality
OMIM:213200	PMPCA	23203	HP:0001265	Hyporeflexia
OMIM:213200	PMPCA	23203	HP:0001263	Global developmental delay
OMIM:213200	PMPCA	23203	HP:0001761	Pes cavus
OMIM:213200	PMPCA	23203	HP:0001260	Dysarthria
OMIM:213200	PMPCA	23203	HP:0000007	Autosomal recessive inheritance
OMIM:213200	PMPCA	23203	HP:0001321	Cerebellar hypoplasia
OMIM:213200	PMPCA	23203	HP:0002311	Incoordination
OMIM:213200	PMPCA	23203	HP:0001107	Ocular albinism
OMIM:213200	PMPCA	23203	HP:0003680	Nonprogressive
OMIM:213200	PMPCA	23203	HP:0008046	Abnormality of the retinal vasculature
OMIM:213200	PMPCA	23203	HP:0005599	Hypopigmentation of hair
OMIM:213200	PMPCA	23203	HP:0000639	Nystagmus
OMIM:213200	PMPCA	23203	HP:0001310	Dysmetria
OMIM:213200	PMPCA	23203	HP:0001249	Intellectual disability
OMIM:213200	PMPCA	23203	HP:0000750	Delayed speech and language development
OMIM:213200	PMPCA	23203	HP:0001257	Spasticity
OMIM:213200	PMPCA	23203	HP:0000518	Cataract
OMIM:608091	ZNF423	23090	HP:0002084	Encephalocele
OMIM:608091	ZNF423	23090	HP:0003812	Phenotypic variability
OMIM:608091	ZNF423	23090	HP:0000316	Hypertelorism
OMIM:608091	ZNF423	23090	HP:0002365	Hypoplasia of the brainstem
OMIM:608091	ZNF423	23090	HP:0001760	Abnormality of the foot
OMIM:608091	ZNF423	23090	HP:0000369	Low-set ears
OMIM:608091	ZNF423	23090	HP:0001249	Intellectual disability
OMIM:608091	ZNF423	23090	HP:0002508	Brainstem dysplasia
OMIM:608091	ZNF423	23090	HP:0000588	Optic nerve coloboma
OMIM:608091	ZNF423	23090	HP:0001252	Muscular hypotonia
OMIM:608091	ZNF423	23090	HP:0002790	Neonatal breathing dysregulation
OMIM:608091	ZNF423	23090	HP:0005280	Depressed nasal bridge
OMIM:608091	ZNF423	23090	HP:0002007	Frontal bossing
OMIM:608091	ZNF423	23090	HP:0002404	Thickened superior cerebellar peduncle
OMIM:608091	ZNF423	23090	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:608091	ZNF423	23090	HP:0000090	Nephronophthisis
OMIM:608091	ZNF423	23090	HP:0002335	Agenesis of cerebellar vermis
OMIM:608091	ZNF423	23090	HP:0000268	Dolichocephaly
OMIM:608091	ZNF423	23090	HP:0000050	Hypoplastic male external genitalia
OMIM:608091	ZNF423	23090	HP:0002871	Central apnea
OMIM:608091	ZNF423	23090	HP:0012211	Abnormal renal physiology
OMIM:608091	ZNF423	23090	HP:0000007	Autosomal recessive inheritance
OMIM:608091	ZNF423	23090	HP:0000568	Microphthalmia
OMIM:608091	ZNF423	23090	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608091	ZNF423	23090	HP:0001251	Ataxia
OMIM:608091	ZNF423	23090	HP:0000256	Macrocephaly
OMIM:608091	ZNF423	23090	HP:0000218	High palate
OMIM:608091	ZNF423	23090	HP:0000505	Visual impairment
OMIM:608091	ZNF423	23090	HP:0001162	Postaxial hand polydactyly
OMIM:608091	ZNF423	23090	HP:0002419	Molar tooth sign on MRI
OMIM:608091	ZNF423	23090	HP:0002876	Episodic tachypnea
OMIM:608091	ZNF423	23090	HP:0000567	Chorioretinal coloboma
OMIM:608091	ZNF423	23090	HP:0001273	Abnormality of the corpus callosum
OMIM:608091	ZNF423	23090	HP:0000565	Esotropia
OMIM:608091	ZNF423	23090	HP:0001263	Global developmental delay
OMIM:608091	ZNF423	23090	HP:0000657	Oculomotor apraxia
OMIM:608091	ZNF423	23090	HP:0000639	Nystagmus
OMIM:608091	ZNF423	23090	HP:0001425	Heterogeneous
OMIM:608091	ZNF423	23090	HP:0000570	Abnormality of saccadic eye movements
OMIM:608091	ZNF423	23090	HP:0000107	Renal cyst
OMIM:608091	ZNF423	23090	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608091	ZNF423	23090	HP:0000556	Retinal dystrophy
OMIM:608091	ZNF423	23090	HP:0007772	Impaired smooth pursuit
OMIM:608091	ZNF423	23090	HP:0000238	Hydrocephalus
OMIM:608091	ZNF423	23090	HP:0001508	Failure to thrive
OMIM:608091	TMEM138	51524	HP:0002084	Encephalocele
OMIM:608091	TMEM138	51524	HP:0003812	Phenotypic variability
OMIM:608091	TMEM138	51524	HP:0000316	Hypertelorism
OMIM:608091	TMEM138	51524	HP:0002365	Hypoplasia of the brainstem
OMIM:608091	TMEM138	51524	HP:0001760	Abnormality of the foot
OMIM:608091	TMEM138	51524	HP:0000369	Low-set ears
OMIM:608091	TMEM138	51524	HP:0001249	Intellectual disability
OMIM:608091	TMEM138	51524	HP:0002508	Brainstem dysplasia
OMIM:608091	TMEM138	51524	HP:0000588	Optic nerve coloboma
OMIM:608091	TMEM138	51524	HP:0001252	Muscular hypotonia
OMIM:608091	TMEM138	51524	HP:0002790	Neonatal breathing dysregulation
OMIM:608091	TMEM138	51524	HP:0005280	Depressed nasal bridge
OMIM:608091	TMEM138	51524	HP:0002007	Frontal bossing
OMIM:608091	TMEM138	51524	HP:0002404	Thickened superior cerebellar peduncle
OMIM:608091	TMEM138	51524	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:608091	TMEM138	51524	HP:0000090	Nephronophthisis
OMIM:608091	TMEM138	51524	HP:0002335	Agenesis of cerebellar vermis
OMIM:608091	TMEM138	51524	HP:0000268	Dolichocephaly
OMIM:608091	TMEM138	51524	HP:0000050	Hypoplastic male external genitalia
OMIM:608091	TMEM138	51524	HP:0002871	Central apnea
OMIM:608091	TMEM138	51524	HP:0012211	Abnormal renal physiology
OMIM:608091	TMEM138	51524	HP:0000007	Autosomal recessive inheritance
OMIM:608091	TMEM138	51524	HP:0000568	Microphthalmia
OMIM:608091	TMEM138	51524	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608091	TMEM138	51524	HP:0001251	Ataxia
OMIM:608091	TMEM138	51524	HP:0000256	Macrocephaly
OMIM:608091	TMEM138	51524	HP:0000218	High palate
OMIM:608091	TMEM138	51524	HP:0000505	Visual impairment
OMIM:608091	TMEM138	51524	HP:0001162	Postaxial hand polydactyly
OMIM:608091	TMEM138	51524	HP:0002419	Molar tooth sign on MRI
OMIM:608091	TMEM138	51524	HP:0002876	Episodic tachypnea
OMIM:608091	TMEM138	51524	HP:0000567	Chorioretinal coloboma
OMIM:608091	TMEM138	51524	HP:0001273	Abnormality of the corpus callosum
OMIM:608091	TMEM138	51524	HP:0000565	Esotropia
OMIM:608091	TMEM138	51524	HP:0001263	Global developmental delay
OMIM:608091	TMEM138	51524	HP:0000657	Oculomotor apraxia
OMIM:608091	TMEM138	51524	HP:0000639	Nystagmus
OMIM:608091	TMEM138	51524	HP:0001425	Heterogeneous
OMIM:608091	TMEM138	51524	HP:0000570	Abnormality of saccadic eye movements
OMIM:608091	TMEM138	51524	HP:0000107	Renal cyst
OMIM:608091	TMEM138	51524	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608091	TMEM138	51524	HP:0000556	Retinal dystrophy
OMIM:608091	TMEM138	51524	HP:0007772	Impaired smooth pursuit
OMIM:608091	TMEM138	51524	HP:0000238	Hydrocephalus
OMIM:608091	TMEM138	51524	HP:0001508	Failure to thrive
OMIM:608091	TMEM237	65062	HP:0002084	Encephalocele
OMIM:608091	TMEM237	65062	HP:0003812	Phenotypic variability
OMIM:608091	TMEM237	65062	HP:0000316	Hypertelorism
OMIM:608091	TMEM237	65062	HP:0002365	Hypoplasia of the brainstem
OMIM:608091	TMEM237	65062	HP:0001760	Abnormality of the foot
OMIM:608091	TMEM237	65062	HP:0000369	Low-set ears
OMIM:608091	TMEM237	65062	HP:0001249	Intellectual disability
OMIM:608091	TMEM237	65062	HP:0002508	Brainstem dysplasia
OMIM:608091	TMEM237	65062	HP:0000588	Optic nerve coloboma
OMIM:608091	TMEM237	65062	HP:0001252	Muscular hypotonia
OMIM:608091	TMEM237	65062	HP:0002790	Neonatal breathing dysregulation
OMIM:608091	TMEM237	65062	HP:0005280	Depressed nasal bridge
OMIM:608091	TMEM237	65062	HP:0002007	Frontal bossing
OMIM:608091	TMEM237	65062	HP:0002404	Thickened superior cerebellar peduncle
OMIM:608091	TMEM237	65062	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:608091	TMEM237	65062	HP:0000090	Nephronophthisis
OMIM:608091	TMEM237	65062	HP:0002335	Agenesis of cerebellar vermis
OMIM:608091	TMEM237	65062	HP:0000268	Dolichocephaly
OMIM:608091	TMEM237	65062	HP:0000050	Hypoplastic male external genitalia
OMIM:608091	TMEM237	65062	HP:0002871	Central apnea
OMIM:608091	TMEM237	65062	HP:0012211	Abnormal renal physiology
OMIM:608091	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:608091	TMEM237	65062	HP:0000568	Microphthalmia
OMIM:608091	TMEM237	65062	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608091	TMEM237	65062	HP:0001251	Ataxia
OMIM:608091	TMEM237	65062	HP:0000256	Macrocephaly
OMIM:608091	TMEM237	65062	HP:0000218	High palate
OMIM:608091	TMEM237	65062	HP:0000505	Visual impairment
OMIM:608091	TMEM237	65062	HP:0001162	Postaxial hand polydactyly
OMIM:608091	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:608091	TMEM237	65062	HP:0002876	Episodic tachypnea
OMIM:608091	TMEM237	65062	HP:0000567	Chorioretinal coloboma
OMIM:608091	TMEM237	65062	HP:0001273	Abnormality of the corpus callosum
OMIM:608091	TMEM237	65062	HP:0000565	Esotropia
OMIM:608091	TMEM237	65062	HP:0001263	Global developmental delay
OMIM:608091	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:608091	TMEM237	65062	HP:0000639	Nystagmus
OMIM:608091	TMEM237	65062	HP:0001425	Heterogeneous
OMIM:608091	TMEM237	65062	HP:0000570	Abnormality of saccadic eye movements
OMIM:608091	TMEM237	65062	HP:0000107	Renal cyst
OMIM:608091	TMEM237	65062	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608091	TMEM237	65062	HP:0000556	Retinal dystrophy
OMIM:608091	TMEM237	65062	HP:0007772	Impaired smooth pursuit
OMIM:608091	TMEM237	65062	HP:0000238	Hydrocephalus
OMIM:608091	TMEM237	65062	HP:0001508	Failure to thrive
OMIM:608091	CEP290	80184	HP:0002084	Encephalocele
OMIM:608091	CEP290	80184	HP:0003812	Phenotypic variability
OMIM:608091	CEP290	80184	HP:0000316	Hypertelorism
OMIM:608091	CEP290	80184	HP:0002365	Hypoplasia of the brainstem
OMIM:608091	CEP290	80184	HP:0001760	Abnormality of the foot
OMIM:608091	CEP290	80184	HP:0000369	Low-set ears
OMIM:608091	CEP290	80184	HP:0001249	Intellectual disability
OMIM:608091	CEP290	80184	HP:0002508	Brainstem dysplasia
OMIM:608091	CEP290	80184	HP:0000588	Optic nerve coloboma
OMIM:608091	CEP290	80184	HP:0001252	Muscular hypotonia
OMIM:608091	CEP290	80184	HP:0002790	Neonatal breathing dysregulation
OMIM:608091	CEP290	80184	HP:0005280	Depressed nasal bridge
OMIM:608091	CEP290	80184	HP:0002007	Frontal bossing
OMIM:608091	CEP290	80184	HP:0002404	Thickened superior cerebellar peduncle
OMIM:608091	CEP290	80184	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:608091	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:608091	CEP290	80184	HP:0002335	Agenesis of cerebellar vermis
OMIM:608091	CEP290	80184	HP:0000268	Dolichocephaly
OMIM:608091	CEP290	80184	HP:0000050	Hypoplastic male external genitalia
OMIM:608091	CEP290	80184	HP:0002871	Central apnea
OMIM:608091	CEP290	80184	HP:0012211	Abnormal renal physiology
OMIM:608091	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:608091	CEP290	80184	HP:0000568	Microphthalmia
OMIM:608091	CEP290	80184	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608091	CEP290	80184	HP:0001251	Ataxia
OMIM:608091	CEP290	80184	HP:0000256	Macrocephaly
OMIM:608091	CEP290	80184	HP:0000218	High palate
OMIM:608091	CEP290	80184	HP:0000505	Visual impairment
OMIM:608091	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:608091	CEP290	80184	HP:0002419	Molar tooth sign on MRI
OMIM:608091	CEP290	80184	HP:0002876	Episodic tachypnea
OMIM:608091	CEP290	80184	HP:0000567	Chorioretinal coloboma
OMIM:608091	CEP290	80184	HP:0001273	Abnormality of the corpus callosum
OMIM:608091	CEP290	80184	HP:0000565	Esotropia
OMIM:608091	CEP290	80184	HP:0001263	Global developmental delay
OMIM:608091	CEP290	80184	HP:0000657	Oculomotor apraxia
OMIM:608091	CEP290	80184	HP:0000639	Nystagmus
OMIM:608091	CEP290	80184	HP:0001425	Heterogeneous
OMIM:608091	CEP290	80184	HP:0000570	Abnormality of saccadic eye movements
OMIM:608091	CEP290	80184	HP:0000107	Renal cyst
OMIM:608091	CEP290	80184	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608091	CEP290	80184	HP:0000556	Retinal dystrophy
OMIM:608091	CEP290	80184	HP:0007772	Impaired smooth pursuit
OMIM:608091	CEP290	80184	HP:0000238	Hydrocephalus
OMIM:608091	CEP290	80184	HP:0001508	Failure to thrive
OMIM:608091	CC2D2A	57545	HP:0002084	Encephalocele
OMIM:608091	CC2D2A	57545	HP:0003812	Phenotypic variability
OMIM:608091	CC2D2A	57545	HP:0000316	Hypertelorism
OMIM:608091	CC2D2A	57545	HP:0002365	Hypoplasia of the brainstem
OMIM:608091	CC2D2A	57545	HP:0001760	Abnormality of the foot
OMIM:608091	CC2D2A	57545	HP:0000369	Low-set ears
OMIM:608091	CC2D2A	57545	HP:0001249	Intellectual disability
OMIM:608091	CC2D2A	57545	HP:0002508	Brainstem dysplasia
OMIM:608091	CC2D2A	57545	HP:0000588	Optic nerve coloboma
OMIM:608091	CC2D2A	57545	HP:0001252	Muscular hypotonia
OMIM:608091	CC2D2A	57545	HP:0002790	Neonatal breathing dysregulation
OMIM:608091	CC2D2A	57545	HP:0005280	Depressed nasal bridge
OMIM:608091	CC2D2A	57545	HP:0002007	Frontal bossing
OMIM:608091	CC2D2A	57545	HP:0002404	Thickened superior cerebellar peduncle
OMIM:608091	CC2D2A	57545	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:608091	CC2D2A	57545	HP:0000090	Nephronophthisis
OMIM:608091	CC2D2A	57545	HP:0002335	Agenesis of cerebellar vermis
OMIM:608091	CC2D2A	57545	HP:0000268	Dolichocephaly
OMIM:608091	CC2D2A	57545	HP:0000050	Hypoplastic male external genitalia
OMIM:608091	CC2D2A	57545	HP:0002871	Central apnea
OMIM:608091	CC2D2A	57545	HP:0012211	Abnormal renal physiology
OMIM:608091	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:608091	CC2D2A	57545	HP:0000568	Microphthalmia
OMIM:608091	CC2D2A	57545	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608091	CC2D2A	57545	HP:0001251	Ataxia
OMIM:608091	CC2D2A	57545	HP:0000256	Macrocephaly
OMIM:608091	CC2D2A	57545	HP:0000218	High palate
OMIM:608091	CC2D2A	57545	HP:0000505	Visual impairment
OMIM:608091	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:608091	CC2D2A	57545	HP:0002419	Molar tooth sign on MRI
OMIM:608091	CC2D2A	57545	HP:0002876	Episodic tachypnea
OMIM:608091	CC2D2A	57545	HP:0000567	Chorioretinal coloboma
OMIM:608091	CC2D2A	57545	HP:0001273	Abnormality of the corpus callosum
OMIM:608091	CC2D2A	57545	HP:0000565	Esotropia
OMIM:608091	CC2D2A	57545	HP:0001263	Global developmental delay
OMIM:608091	CC2D2A	57545	HP:0000657	Oculomotor apraxia
OMIM:608091	CC2D2A	57545	HP:0000639	Nystagmus
OMIM:608091	CC2D2A	57545	HP:0001425	Heterogeneous
OMIM:608091	CC2D2A	57545	HP:0000570	Abnormality of saccadic eye movements
OMIM:608091	CC2D2A	57545	HP:0000107	Renal cyst
OMIM:608091	CC2D2A	57545	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608091	CC2D2A	57545	HP:0000556	Retinal dystrophy
OMIM:608091	CC2D2A	57545	HP:0007772	Impaired smooth pursuit
OMIM:608091	CC2D2A	57545	HP:0000238	Hydrocephalus
OMIM:608091	CC2D2A	57545	HP:0001508	Failure to thrive
OMIM:608091	TMEM216	51259	HP:0002084	Encephalocele
OMIM:608091	TMEM216	51259	HP:0003812	Phenotypic variability
OMIM:608091	TMEM216	51259	HP:0000316	Hypertelorism
OMIM:608091	TMEM216	51259	HP:0002365	Hypoplasia of the brainstem
OMIM:608091	TMEM216	51259	HP:0001760	Abnormality of the foot
OMIM:608091	TMEM216	51259	HP:0000369	Low-set ears
OMIM:608091	TMEM216	51259	HP:0001249	Intellectual disability
OMIM:608091	TMEM216	51259	HP:0002508	Brainstem dysplasia
OMIM:608091	TMEM216	51259	HP:0000588	Optic nerve coloboma
OMIM:608091	TMEM216	51259	HP:0001252	Muscular hypotonia
OMIM:608091	TMEM216	51259	HP:0002790	Neonatal breathing dysregulation
OMIM:608091	TMEM216	51259	HP:0005280	Depressed nasal bridge
OMIM:608091	TMEM216	51259	HP:0002007	Frontal bossing
OMIM:608091	TMEM216	51259	HP:0002404	Thickened superior cerebellar peduncle
OMIM:608091	TMEM216	51259	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:608091	TMEM216	51259	HP:0000090	Nephronophthisis
OMIM:608091	TMEM216	51259	HP:0002335	Agenesis of cerebellar vermis
OMIM:608091	TMEM216	51259	HP:0000268	Dolichocephaly
OMIM:608091	TMEM216	51259	HP:0000050	Hypoplastic male external genitalia
OMIM:608091	TMEM216	51259	HP:0002871	Central apnea
OMIM:608091	TMEM216	51259	HP:0012211	Abnormal renal physiology
OMIM:608091	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:608091	TMEM216	51259	HP:0000568	Microphthalmia
OMIM:608091	TMEM216	51259	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608091	TMEM216	51259	HP:0001251	Ataxia
OMIM:608091	TMEM216	51259	HP:0000256	Macrocephaly
OMIM:608091	TMEM216	51259	HP:0000218	High palate
OMIM:608091	TMEM216	51259	HP:0000505	Visual impairment
OMIM:608091	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:608091	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
OMIM:608091	TMEM216	51259	HP:0002876	Episodic tachypnea
OMIM:608091	TMEM216	51259	HP:0000567	Chorioretinal coloboma
OMIM:608091	TMEM216	51259	HP:0001273	Abnormality of the corpus callosum
OMIM:608091	TMEM216	51259	HP:0000565	Esotropia
OMIM:608091	TMEM216	51259	HP:0001263	Global developmental delay
OMIM:608091	TMEM216	51259	HP:0000657	Oculomotor apraxia
OMIM:608091	TMEM216	51259	HP:0000639	Nystagmus
OMIM:608091	TMEM216	51259	HP:0001425	Heterogeneous
OMIM:608091	TMEM216	51259	HP:0000570	Abnormality of saccadic eye movements
OMIM:608091	TMEM216	51259	HP:0000107	Renal cyst
OMIM:608091	TMEM216	51259	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608091	TMEM216	51259	HP:0000556	Retinal dystrophy
OMIM:608091	TMEM216	51259	HP:0007772	Impaired smooth pursuit
OMIM:608091	TMEM216	51259	HP:0000238	Hydrocephalus
OMIM:608091	TMEM216	51259	HP:0001508	Failure to thrive
OMIM:608091	TMEM231	79583	HP:0002084	Encephalocele
OMIM:608091	TMEM231	79583	HP:0003812	Phenotypic variability
OMIM:608091	TMEM231	79583	HP:0000316	Hypertelorism
OMIM:608091	TMEM231	79583	HP:0002365	Hypoplasia of the brainstem
OMIM:608091	TMEM231	79583	HP:0001760	Abnormality of the foot
OMIM:608091	TMEM231	79583	HP:0000369	Low-set ears
OMIM:608091	TMEM231	79583	HP:0001249	Intellectual disability
OMIM:608091	TMEM231	79583	HP:0002508	Brainstem dysplasia
OMIM:608091	TMEM231	79583	HP:0000588	Optic nerve coloboma
OMIM:608091	TMEM231	79583	HP:0001252	Muscular hypotonia
OMIM:608091	TMEM231	79583	HP:0002790	Neonatal breathing dysregulation
OMIM:608091	TMEM231	79583	HP:0005280	Depressed nasal bridge
OMIM:608091	TMEM231	79583	HP:0002007	Frontal bossing
OMIM:608091	TMEM231	79583	HP:0002404	Thickened superior cerebellar peduncle
OMIM:608091	TMEM231	79583	HP:0002195	Dysgenesis of the cerebellar vermis
OMIM:608091	TMEM231	79583	HP:0000090	Nephronophthisis
OMIM:608091	TMEM231	79583	HP:0002335	Agenesis of cerebellar vermis
OMIM:608091	TMEM231	79583	HP:0000268	Dolichocephaly
OMIM:608091	TMEM231	79583	HP:0000050	Hypoplastic male external genitalia
OMIM:608091	TMEM231	79583	HP:0002871	Central apnea
OMIM:608091	TMEM231	79583	HP:0012211	Abnormal renal physiology
OMIM:608091	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:608091	TMEM231	79583	HP:0000568	Microphthalmia
OMIM:608091	TMEM231	79583	HP:0100951	Enlarged fossa interpeduncularis
OMIM:608091	TMEM231	79583	HP:0001251	Ataxia
OMIM:608091	TMEM231	79583	HP:0000256	Macrocephaly
OMIM:608091	TMEM231	79583	HP:0000218	High palate
OMIM:608091	TMEM231	79583	HP:0000505	Visual impairment
OMIM:608091	TMEM231	79583	HP:0001162	Postaxial hand polydactyly
OMIM:608091	TMEM231	79583	HP:0002419	Molar tooth sign on MRI
OMIM:608091	TMEM231	79583	HP:0002876	Episodic tachypnea
OMIM:608091	TMEM231	79583	HP:0000567	Chorioretinal coloboma
OMIM:608091	TMEM231	79583	HP:0001273	Abnormality of the corpus callosum
OMIM:608091	TMEM231	79583	HP:0000565	Esotropia
OMIM:608091	TMEM231	79583	HP:0001263	Global developmental delay
OMIM:608091	TMEM231	79583	HP:0000657	Oculomotor apraxia
OMIM:608091	TMEM231	79583	HP:0000639	Nystagmus
OMIM:608091	TMEM231	79583	HP:0001425	Heterogeneous
OMIM:608091	TMEM231	79583	HP:0000570	Abnormality of saccadic eye movements
OMIM:608091	TMEM231	79583	HP:0000107	Renal cyst
OMIM:608091	TMEM231	79583	HP:0011933	Elongated superior cerebellar peduncle
OMIM:608091	TMEM231	79583	HP:0000556	Retinal dystrophy
OMIM:608091	TMEM231	79583	HP:0007772	Impaired smooth pursuit
OMIM:608091	TMEM231	79583	HP:0000238	Hydrocephalus
OMIM:608091	TMEM231	79583	HP:0001508	Failure to thrive
OMIM:611102	CATSPER2	117155	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:611102	CATSPER2	117155	HP:0003251	Male infertility
OMIM:611102	CATSPER2	117155	HP:0000007	Autosomal recessive inheritance
OMIM:611102	CATSPER2	117155	HP:0008669	Abnormal spermatogenesis
OMIM:611102	STRC	161497	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:611102	STRC	161497	HP:0003251	Male infertility
OMIM:611102	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:611102	STRC	161497	HP:0008669	Abnormal spermatogenesis
OMIM:612319	FA2H	79152	HP:0001258	Spastic paraplegia
OMIM:612319	FA2H	79152	HP:0001268	Mental deterioration
OMIM:612319	FA2H	79152	HP:0002079	Hypoplasia of the corpus callosum
OMIM:612319	FA2H	79152	HP:0001310	Dysmetria
OMIM:612319	FA2H	79152	HP:0003676	Progressive
OMIM:612319	FA2H	79152	HP:0001250	Seizures
OMIM:612319	FA2H	79152	HP:0011448	Ankle clonus
OMIM:612319	FA2H	79152	HP:0002061	Lower limb spasticity
OMIM:612319	FA2H	79152	HP:0001260	Dysarthria
OMIM:612319	FA2H	79152	HP:0001272	Cerebellar atrophy
OMIM:612319	FA2H	79152	HP:0002313	Spastic paraparesis
OMIM:612319	FA2H	79152	HP:0000648	Optic atrophy
OMIM:612319	FA2H	79152	HP:0000020	Urinary incontinence
OMIM:612319	FA2H	79152	HP:0001332	Dystonia
OMIM:612319	FA2H	79152	HP:0002180	Neurodegeneration
OMIM:612319	FA2H	79152	HP:0000486	Strabismus
OMIM:612319	FA2H	79152	HP:0000639	Nystagmus
OMIM:612319	FA2H	79152	HP:0000544	External ophthalmoplegia
OMIM:612319	FA2H	79152	HP:0000012	Urinary urgency
OMIM:612319	FA2H	79152	HP:0001285	Spastic tetraparesis
OMIM:612319	FA2H	79152	HP:0002518	Abnormality of the periventricular white matter
OMIM:612319	FA2H	79152	HP:0003487	Babinski sign
OMIM:612319	FA2H	79152	HP:0000007	Autosomal recessive inheritance
OMIM:612319	FA2H	79152	HP:0001249	Intellectual disability
OMIM:612319	FA2H	79152	HP:0002355	Difficulty walking
OMIM:603896	EIF2B4	8890	HP:0006808	Cerebral hypomyelination
OMIM:603896	EIF2B4	8890	HP:0000746	Delusions
OMIM:603896	EIF2B4	8890	HP:0001257	Spasticity
OMIM:603896	EIF2B4	8890	HP:0000869	Secondary amenorrhea
OMIM:603896	EIF2B4	8890	HP:0001254	Lethargy
OMIM:603896	EIF2B4	8890	HP:0001260	Dysarthria
OMIM:603896	EIF2B4	8890	HP:0003621	Juvenile onset
OMIM:603896	EIF2B4	8890	HP:0002317	Unsteady gait
OMIM:603896	EIF2B4	8890	HP:0000007	Autosomal recessive inheritance
OMIM:603896	EIF2B4	8890	HP:0002376	Developmental regression
OMIM:603896	EIF2B4	8890	HP:0000648	Optic atrophy
OMIM:603896	EIF2B4	8890	HP:0000712	Emotional lability
OMIM:603896	EIF2B4	8890	HP:0001252	Muscular hypotonia
OMIM:603896	EIF2B4	8890	HP:0002352	Leukoencephalopathy
OMIM:603896	EIF2B4	8890	HP:0002354	Memory impairment
OMIM:603896	EIF2B4	8890	HP:0001250	Seizures
OMIM:603896	EIF2B4	8890	HP:0007305	CNS demyelination
OMIM:603896	EIF2B4	8890	HP:0000256	Macrocephaly
OMIM:603896	EIF2B4	8890	HP:0000618	Blindness
OMIM:603896	EIF2B3	8891	HP:0006808	Cerebral hypomyelination
OMIM:603896	EIF2B3	8891	HP:0000746	Delusions
OMIM:603896	EIF2B3	8891	HP:0001257	Spasticity
OMIM:603896	EIF2B3	8891	HP:0000869	Secondary amenorrhea
OMIM:603896	EIF2B3	8891	HP:0001254	Lethargy
OMIM:603896	EIF2B3	8891	HP:0001260	Dysarthria
OMIM:603896	EIF2B3	8891	HP:0003621	Juvenile onset
OMIM:603896	EIF2B3	8891	HP:0002317	Unsteady gait
OMIM:603896	EIF2B3	8891	HP:0000007	Autosomal recessive inheritance
OMIM:603896	EIF2B3	8891	HP:0002376	Developmental regression
OMIM:603896	EIF2B3	8891	HP:0000648	Optic atrophy
OMIM:603896	EIF2B3	8891	HP:0000712	Emotional lability
OMIM:603896	EIF2B3	8891	HP:0001252	Muscular hypotonia
OMIM:603896	EIF2B3	8891	HP:0002352	Leukoencephalopathy
OMIM:603896	EIF2B3	8891	HP:0002354	Memory impairment
OMIM:603896	EIF2B3	8891	HP:0001250	Seizures
OMIM:603896	EIF2B3	8891	HP:0007305	CNS demyelination
OMIM:603896	EIF2B3	8891	HP:0000256	Macrocephaly
OMIM:603896	EIF2B3	8891	HP:0000618	Blindness
OMIM:603896	EIF2B2	8892	HP:0006808	Cerebral hypomyelination
OMIM:603896	EIF2B2	8892	HP:0000746	Delusions
OMIM:603896	EIF2B2	8892	HP:0001257	Spasticity
OMIM:603896	EIF2B2	8892	HP:0000869	Secondary amenorrhea
OMIM:603896	EIF2B2	8892	HP:0001254	Lethargy
OMIM:603896	EIF2B2	8892	HP:0001260	Dysarthria
OMIM:603896	EIF2B2	8892	HP:0003621	Juvenile onset
OMIM:603896	EIF2B2	8892	HP:0002317	Unsteady gait
OMIM:603896	EIF2B2	8892	HP:0000007	Autosomal recessive inheritance
OMIM:603896	EIF2B2	8892	HP:0002376	Developmental regression
OMIM:603896	EIF2B2	8892	HP:0000648	Optic atrophy
OMIM:603896	EIF2B2	8892	HP:0000712	Emotional lability
OMIM:603896	EIF2B2	8892	HP:0001252	Muscular hypotonia
OMIM:603896	EIF2B2	8892	HP:0002352	Leukoencephalopathy
OMIM:603896	EIF2B2	8892	HP:0002354	Memory impairment
OMIM:603896	EIF2B2	8892	HP:0001250	Seizures
OMIM:603896	EIF2B2	8892	HP:0007305	CNS demyelination
OMIM:603896	EIF2B2	8892	HP:0000256	Macrocephaly
OMIM:603896	EIF2B2	8892	HP:0000618	Blindness
OMIM:603896	EIF2B5	8893	HP:0006808	Cerebral hypomyelination
OMIM:603896	EIF2B5	8893	HP:0000746	Delusions
OMIM:603896	EIF2B5	8893	HP:0001257	Spasticity
OMIM:603896	EIF2B5	8893	HP:0000869	Secondary amenorrhea
OMIM:603896	EIF2B5	8893	HP:0001254	Lethargy
OMIM:603896	EIF2B5	8893	HP:0001260	Dysarthria
OMIM:603896	EIF2B5	8893	HP:0003621	Juvenile onset
OMIM:603896	EIF2B5	8893	HP:0002317	Unsteady gait
OMIM:603896	EIF2B5	8893	HP:0000007	Autosomal recessive inheritance
OMIM:603896	EIF2B5	8893	HP:0002376	Developmental regression
OMIM:603896	EIF2B5	8893	HP:0000648	Optic atrophy
OMIM:603896	EIF2B5	8893	HP:0000712	Emotional lability
OMIM:603896	EIF2B5	8893	HP:0001252	Muscular hypotonia
OMIM:603896	EIF2B5	8893	HP:0002352	Leukoencephalopathy
OMIM:603896	EIF2B5	8893	HP:0002354	Memory impairment
OMIM:603896	EIF2B5	8893	HP:0001250	Seizures
OMIM:603896	EIF2B5	8893	HP:0007305	CNS demyelination
OMIM:603896	EIF2B5	8893	HP:0000256	Macrocephaly
OMIM:603896	EIF2B5	8893	HP:0000618	Blindness
OMIM:603896	EIF2B1	1967	HP:0006808	Cerebral hypomyelination
OMIM:603896	EIF2B1	1967	HP:0000746	Delusions
OMIM:603896	EIF2B1	1967	HP:0001257	Spasticity
OMIM:603896	EIF2B1	1967	HP:0000869	Secondary amenorrhea
OMIM:603896	EIF2B1	1967	HP:0001254	Lethargy
OMIM:603896	EIF2B1	1967	HP:0001260	Dysarthria
OMIM:603896	EIF2B1	1967	HP:0003621	Juvenile onset
OMIM:603896	EIF2B1	1967	HP:0002317	Unsteady gait
OMIM:603896	EIF2B1	1967	HP:0000007	Autosomal recessive inheritance
OMIM:603896	EIF2B1	1967	HP:0002376	Developmental regression
OMIM:603896	EIF2B1	1967	HP:0000648	Optic atrophy
OMIM:603896	EIF2B1	1967	HP:0000712	Emotional lability
OMIM:603896	EIF2B1	1967	HP:0001252	Muscular hypotonia
OMIM:603896	EIF2B1	1967	HP:0002352	Leukoencephalopathy
OMIM:603896	EIF2B1	1967	HP:0002354	Memory impairment
OMIM:603896	EIF2B1	1967	HP:0001250	Seizures
OMIM:603896	EIF2B1	1967	HP:0007305	CNS demyelination
OMIM:603896	EIF2B1	1967	HP:0000256	Macrocephaly
OMIM:603896	EIF2B1	1967	HP:0000618	Blindness
OMIM:609056	ST3GAL5	8869	HP:0001263	Global developmental delay
OMIM:609056	ST3GAL5	8869	HP:0001336	Myoclonus
OMIM:609056	ST3GAL5	8869	HP:0002376	Developmental regression
OMIM:609056	ST3GAL5	8869	HP:0000572	Visual loss
OMIM:609056	ST3GAL5	8869	HP:0000737	Irritability
OMIM:609056	ST3GAL5	8869	HP:0002133	Status epilepticus
OMIM:609056	ST3GAL5	8869	HP:0001508	Failure to thrive
OMIM:609056	ST3GAL5	8869	HP:0000648	Optic atrophy
OMIM:609056	ST3GAL5	8869	HP:0008872	Feeding difficulties in infancy
OMIM:609056	ST3GAL5	8869	HP:0001344	Absent speech
OMIM:609056	ST3GAL5	8869	HP:0000365	Hearing impairment
OMIM:609056	ST3GAL5	8869	HP:0100704	Cortical visual impairment
OMIM:609056	ST3GAL5	8869	HP:0002013	Vomiting
OMIM:609056	ST3GAL5	8869	HP:0000007	Autosomal recessive inheritance
OMIM:609056	ST3GAL5	8869	HP:0002069	Generalized tonic-clonic seizures
OMIM:609056	ST3GAL5	8869	HP:0000252	Microcephaly
OMIM:609056	ST3GAL5	8869	HP:0001252	Muscular hypotonia
OMIM:609056	ST3GAL5	8869	HP:0001266	Choreoathetosis
OMIM:607200	SLC5A5	6528	HP:0000007	Autosomal recessive inheritance
OMIM:607200	TPO	7173	HP:0000007	Autosomal recessive inheritance
OMIM:607200	DUOX2	50506	HP:0000007	Autosomal recessive inheritance
OMIM:607200	TG	7038	HP:0000007	Autosomal recessive inheritance
OMIM:607200	DUOXA2	405753	HP:0000007	Autosomal recessive inheritance
OMIM:607200	IYD	389434	HP:0000007	Autosomal recessive inheritance
OMIM:426000	KDM5D	8284	HP:0001450	Y-linked inheritance
OMIM:426000	KDM5D	8284	HP:0002715	Abnormality of the immune system
OMIM:616330	SLC25A1	6576	HP:0000508	Ptosis
OMIM:616330	SLC25A1	6576	HP:0002465	Poor speech
OMIM:616330	SLC25A1	6576	HP:0001251	Ataxia
OMIM:616330	SLC25A1	6576	HP:0001263	Global developmental delay
OMIM:616330	SLC25A1	6576	HP:0001260	Dysarthria
OMIM:616330	SLC25A1	6576	HP:0001284	Areflexia
OMIM:616330	SLC25A1	6576	HP:0001324	Muscle weakness
OMIM:616330	SLC25A1	6576	HP:0001371	Flexion contracture
OMIM:616330	SLC25A1	6576	HP:0002093	Respiratory insufficiency
OMIM:616330	SLC25A1	6576	HP:0001558	Decreased fetal movement
OMIM:616330	SLC25A1	6576	HP:0002355	Difficulty walking
OMIM:616330	SNAP25	6616	HP:0000508	Ptosis
OMIM:616330	SNAP25	6616	HP:0002465	Poor speech
OMIM:616330	SNAP25	6616	HP:0001251	Ataxia
OMIM:616330	SNAP25	6616	HP:0001263	Global developmental delay
OMIM:616330	SNAP25	6616	HP:0001260	Dysarthria
OMIM:616330	SNAP25	6616	HP:0001284	Areflexia
OMIM:616330	SNAP25	6616	HP:0001324	Muscle weakness
OMIM:616330	SNAP25	6616	HP:0001371	Flexion contracture
OMIM:616330	SNAP25	6616	HP:0002093	Respiratory insufficiency
OMIM:616330	SNAP25	6616	HP:0001558	Decreased fetal movement
OMIM:616330	SNAP25	6616	HP:0002355	Difficulty walking
OMIM:616330	SYT2	127833	HP:0000508	Ptosis
OMIM:616330	SYT2	127833	HP:0002465	Poor speech
OMIM:616330	SYT2	127833	HP:0001251	Ataxia
OMIM:616330	SYT2	127833	HP:0001263	Global developmental delay
OMIM:616330	SYT2	127833	HP:0001260	Dysarthria
OMIM:616330	SYT2	127833	HP:0001284	Areflexia
OMIM:616330	SYT2	127833	HP:0001324	Muscle weakness
OMIM:616330	SYT2	127833	HP:0001371	Flexion contracture
OMIM:616330	SYT2	127833	HP:0002093	Respiratory insufficiency
OMIM:616330	SYT2	127833	HP:0001558	Decreased fetal movement
OMIM:616330	SYT2	127833	HP:0002355	Difficulty walking
OMIM:616330	AGRN	375790	HP:0000508	Ptosis
OMIM:616330	AGRN	375790	HP:0002465	Poor speech
OMIM:616330	AGRN	375790	HP:0001251	Ataxia
OMIM:616330	AGRN	375790	HP:0001263	Global developmental delay
OMIM:616330	AGRN	375790	HP:0001260	Dysarthria
OMIM:616330	AGRN	375790	HP:0001284	Areflexia
OMIM:616330	AGRN	375790	HP:0001324	Muscle weakness
OMIM:616330	AGRN	375790	HP:0001371	Flexion contracture
OMIM:616330	AGRN	375790	HP:0002093	Respiratory insufficiency
OMIM:616330	AGRN	375790	HP:0001558	Decreased fetal movement
OMIM:616330	AGRN	375790	HP:0002355	Difficulty walking
OMIM:616330	CHAT	1103	HP:0000508	Ptosis
OMIM:616330	CHAT	1103	HP:0002465	Poor speech
OMIM:616330	CHAT	1103	HP:0001251	Ataxia
OMIM:616330	CHAT	1103	HP:0001263	Global developmental delay
OMIM:616330	CHAT	1103	HP:0001260	Dysarthria
OMIM:616330	CHAT	1103	HP:0001284	Areflexia
OMIM:616330	CHAT	1103	HP:0001324	Muscle weakness
OMIM:616330	CHAT	1103	HP:0001371	Flexion contracture
OMIM:616330	CHAT	1103	HP:0002093	Respiratory insufficiency
OMIM:616330	CHAT	1103	HP:0001558	Decreased fetal movement
OMIM:616330	CHAT	1103	HP:0002355	Difficulty walking
OMIM:614226	CDON	50937	HP:0000006	Autosomal dominant inheritance
OMIM:614226	CDON	50937	HP:0001274	Agenesis of corpus callosum
OMIM:614226	CDON	50937	HP:0001263	Global developmental delay
OMIM:614226	CDON	50937	HP:0000664	Synophrys
OMIM:614226	CDON	50937	HP:0001360	Holoprosencephaly
OMIM:614226	CDON	50937	HP:0000252	Microcephaly
OMIM:614226	CDON	50937	HP:0000601	Hypotelorism
ORPHANET:440	MAMLD1	10046	HP:0100627	Displacement of the external urethral meatus
ORPHANET:440	AR	367	HP:0100627	Displacement of the external urethral meatus
OMIM:614485	FREM1	158326	HP:0000316	Hypertelorism
OMIM:614485	FREM1	158326	HP:0000252	Microcephaly
OMIM:614485	FREM1	158326	HP:0000006	Autosomal dominant inheritance
OMIM:614485	FREM1	158326	HP:0000243	Trigonocephaly
OMIM:614485	FGFR1	2260	HP:0000316	Hypertelorism
OMIM:614485	FGFR1	2260	HP:0000252	Microcephaly
OMIM:614485	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:614485	FGFR1	2260	HP:0000243	Trigonocephaly
OMIM:234810	EIF2AK4	440275	HP:0000007	Autosomal recessive inheritance
OMIM:234810	EIF2AK4	440275	HP:0002094	Dyspnea
ORPHANET:461	STS	412	HP:0007759	Opacification of the corneal stroma
ORPHANET:461	STS	412	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:461	STS	412	HP:0000966	Hypohidrosis
ORPHANET:461	STS	412	HP:0000958	Dry skin
ORPHANET:461	STS	412	HP:0000028	Cryptorchidism
ORPHANET:461	STS	412	HP:0002167	Neurological speech impairment
ORPHANET:461	STS	412	HP:0000717	Autism
ORPHANET:461	STS	412	HP:0000962	Hyperkeratosis
ORPHANET:461	STS	412	HP:0008064	Ichthyosis
OMIM:143500	UGT1A1	54658	HP:0000007	Autosomal recessive inheritance
OMIM:143500	UGT1A1	54658	HP:0000952	Jaundice
OMIM:167800	SPINK1	6690	HP:0001977	Abnormal thrombosis
OMIM:167800	SPINK1	6690	HP:0001945	Fever
OMIM:167800	SPINK1	6690	HP:0001733	Pancreatitis
OMIM:167800	SPINK1	6690	HP:0000819	Diabetes mellitus
OMIM:167800	SPINK1	6690	HP:0002027	Abdominal pain
OMIM:167800	SPINK1	6690	HP:0002570	Steatorrhea
OMIM:167800	SPINK1	6690	HP:0000006	Autosomal dominant inheritance
OMIM:167800	CTRC	11330	HP:0001977	Abnormal thrombosis
OMIM:167800	CTRC	11330	HP:0001945	Fever
OMIM:167800	CTRC	11330	HP:0001733	Pancreatitis
OMIM:167800	CTRC	11330	HP:0000819	Diabetes mellitus
OMIM:167800	CTRC	11330	HP:0002027	Abdominal pain
OMIM:167800	CTRC	11330	HP:0002570	Steatorrhea
OMIM:167800	CTRC	11330	HP:0000006	Autosomal dominant inheritance
OMIM:167800	CFTR	1080	HP:0001977	Abnormal thrombosis
OMIM:167800	CFTR	1080	HP:0001945	Fever
OMIM:167800	CFTR	1080	HP:0001733	Pancreatitis
OMIM:167800	CFTR	1080	HP:0000819	Diabetes mellitus
OMIM:167800	CFTR	1080	HP:0002027	Abdominal pain
OMIM:167800	CFTR	1080	HP:0002570	Steatorrhea
OMIM:167800	CFTR	1080	HP:0000006	Autosomal dominant inheritance
OMIM:167800	PRSS1	5644	HP:0001977	Abnormal thrombosis
OMIM:167800	PRSS1	5644	HP:0001945	Fever
OMIM:167800	PRSS1	5644	HP:0001733	Pancreatitis
OMIM:167800	PRSS1	5644	HP:0000819	Diabetes mellitus
OMIM:167800	PRSS1	5644	HP:0002027	Abdominal pain
OMIM:167800	PRSS1	5644	HP:0002570	Steatorrhea
OMIM:167800	PRSS1	5644	HP:0000006	Autosomal dominant inheritance
OMIM:167800	PRSS2	5645	HP:0001977	Abnormal thrombosis
OMIM:167800	PRSS2	5645	HP:0001945	Fever
OMIM:167800	PRSS2	5645	HP:0001733	Pancreatitis
OMIM:167800	PRSS2	5645	HP:0000819	Diabetes mellitus
OMIM:167800	PRSS2	5645	HP:0002027	Abdominal pain
OMIM:167800	PRSS2	5645	HP:0002570	Steatorrhea
OMIM:167800	PRSS2	5645	HP:0000006	Autosomal dominant inheritance
OMIM:167800	CPA1	1357	HP:0001977	Abnormal thrombosis
OMIM:167800	CPA1	1357	HP:0001945	Fever
OMIM:167800	CPA1	1357	HP:0001733	Pancreatitis
OMIM:167800	CPA1	1357	HP:0000819	Diabetes mellitus
OMIM:167800	CPA1	1357	HP:0002027	Abdominal pain
OMIM:167800	CPA1	1357	HP:0002570	Steatorrhea
OMIM:167800	CPA1	1357	HP:0000006	Autosomal dominant inheritance
OMIM:308205	MBTPS2	51360	HP:0002251	Aganglionic megacolon
OMIM:308205	MBTPS2	51360	HP:0012444	Brain atrophy
OMIM:308205	MBTPS2	51360	HP:0001511	Intrauterine growth retardation
OMIM:308205	MBTPS2	51360	HP:0001596	Alopecia
OMIM:308205	MBTPS2	51360	HP:0000772	Abnormality of the ribs
OMIM:308205	MBTPS2	51360	HP:0002007	Frontal bossing
OMIM:308205	MBTPS2	51360	HP:0001025	Urticaria
OMIM:308205	MBTPS2	51360	HP:0100490	Camptodactyly of finger
OMIM:308205	MBTPS2	51360	HP:0000926	Platyspondyly
OMIM:308205	MBTPS2	51360	HP:0000968	Ectodermal dysplasia
OMIM:308205	MBTPS2	51360	HP:0001231	Abnormality of the fingernails
OMIM:308205	MBTPS2	51360	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:308205	MBTPS2	51360	HP:0000175	Cleft palate
OMIM:308205	MBTPS2	51360	HP:0000964	Eczema
OMIM:308205	MBTPS2	51360	HP:0000453	Choanal atresia
OMIM:308205	MBTPS2	51360	HP:0000545	Myopia
OMIM:308205	MBTPS2	51360	HP:0000639	Nystagmus
OMIM:308205	MBTPS2	51360	HP:0000003	Multicystic kidney dysplasia
OMIM:308205	MBTPS2	51360	HP:0001419	X-linked recessive inheritance
OMIM:308205	MBTPS2	51360	HP:0000518	Cataract
OMIM:308205	MBTPS2	51360	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:308205	MBTPS2	51360	HP:0004322	Short stature
OMIM:308205	MBTPS2	51360	HP:0000110	Renal dysplasia
OMIM:308205	MBTPS2	51360	HP:0003422	Vertebral segmentation defect
OMIM:308205	MBTPS2	51360	HP:0001171	Split hand
OMIM:308205	MBTPS2	51360	HP:0100543	Cognitive impairment
OMIM:308205	MBTPS2	51360	HP:0000365	Hearing impairment
OMIM:308205	MBTPS2	51360	HP:0000076	Vesicoureteral reflux
OMIM:308205	MBTPS2	51360	HP:0001537	Umbilical hernia
OMIM:308205	MBTPS2	51360	HP:0002119	Ventriculomegaly
OMIM:308205	MBTPS2	51360	HP:0008404	Nail dystrophy
OMIM:308205	MBTPS2	51360	HP:0001019	Erythroderma
OMIM:308205	MBTPS2	51360	HP:0000252	Microcephaly
OMIM:308205	MBTPS2	51360	HP:0000613	Photophobia
OMIM:308205	MBTPS2	51360	HP:0000400	Macrotia
OMIM:308205	MBTPS2	51360	HP:0000238	Hydrocephalus
OMIM:308205	MBTPS2	51360	HP:0000444	Convex nasal ridge
OMIM:308205	MBTPS2	51360	HP:0002376	Developmental regression
OMIM:308205	MBTPS2	51360	HP:0001162	Postaxial hand polydactyly
OMIM:308205	MBTPS2	51360	HP:0002079	Hypoplasia of the corpus callosum
OMIM:308205	MBTPS2	51360	HP:0008064	Ichthyosis
OMIM:308205	MBTPS2	51360	HP:0000028	Cryptorchidism
OMIM:308205	MBTPS2	51360	HP:0003468	Abnormality of the vertebrae
OMIM:308205	MBTPS2	51360	HP:0002808	Kyphosis
OMIM:308205	MBTPS2	51360	HP:0003828	Variable expressivity
OMIM:308205	MBTPS2	51360	HP:0001539	Omphalocele
OMIM:308205	MBTPS2	51360	HP:0040189	Scaling skin
OMIM:308205	MBTPS2	51360	HP:0002120	Cerebral cortical atrophy
OMIM:308205	MBTPS2	51360	HP:0100533	Inflammatory abnormality of the eye
OMIM:308205	MBTPS2	51360	HP:0002827	Hip dislocation
OMIM:308205	MBTPS2	51360	HP:0000612	Iris coloboma
OMIM:308205	MBTPS2	51360	HP:0001249	Intellectual disability
OMIM:308205	MBTPS2	51360	HP:0002650	Scoliosis
OMIM:308205	MBTPS2	51360	HP:0001250	Seizures
OMIM:308205	MBTPS2	51360	HP:0003577	Congenital onset
OMIM:308205	MBTPS2	51360	HP:0000958	Dry skin
OMIM:308205	MBTPS2	51360	HP:0000122	Unilateral renal agenesis
OMIM:308205	MBTPS2	51360	HP:0007759	Opacification of the corneal stroma
OMIM:308205	MBTPS2	51360	HP:0000682	Abnormality of dental enamel
OMIM:308205	MBTPS2	51360	HP:0002750	Delayed skeletal maturation
OMIM:308205	MBTPS2	51360	HP:0000483	Astigmatism
OMIM:308205	MBTPS2	51360	HP:0002205	Recurrent respiratory infections
OMIM:308205	MBTPS2	51360	HP:0007502	Follicular hyperkeratosis
OMIM:308205	MBTPS2	51360	HP:0000368	Low-set, posteriorly rotated ears
OMIM:308205	MBTPS2	51360	HP:0001252	Muscular hypotonia
OMIM:308205	MBTPS2	51360	HP:0001263	Global developmental delay
OMIM:308205	MBTPS2	51360	HP:0000023	Inguinal hernia
OMIM:308205	MBTPS2	51360	HP:0001357	Plagiocephaly
OMIM:308205	MBTPS2	51360	HP:0000648	Optic atrophy
OMIM:308205	MBTPS2	51360	HP:0002164	Nail dysplasia
OMIM:308205	MBTPS2	51360	HP:0001562	Oligohydramnios
OMIM:308205	MBTPS2	51360	HP:0008678	Renal hypoplasia/aplasia
OMIM:308205	MBTPS2	51360	HP:0000966	Hypohidrosis
OMIM:241410	TBCE	6905	HP:0000252	Microcephaly
OMIM:241410	TBCE	6905	HP:0000490	Deeply set eye
OMIM:241410	TBCE	6905	HP:0003416	Spinal canal stenosis
OMIM:241410	TBCE	6905	HP:0000444	Convex nasal ridge
OMIM:241410	TBCE	6905	HP:0000829	Hypoparathyroidism
OMIM:241410	TBCE	6905	HP:0000343	Long philtrum
OMIM:241410	TBCE	6905	HP:0100543	Cognitive impairment
OMIM:241410	TBCE	6905	HP:0000369	Low-set ears
OMIM:241410	TBCE	6905	HP:0008572	External ear malformation
OMIM:241410	TBCE	6905	HP:0002718	Recurrent bacterial infections
OMIM:241410	TBCE	6905	HP:0001773	Short foot
OMIM:241410	TBCE	6905	HP:0004279	Short palm
OMIM:241410	TBCE	6905	HP:0005280	Depressed nasal bridge
OMIM:241410	TBCE	6905	HP:0200055	Small hand
OMIM:241410	TBCE	6905	HP:0002901	Hypocalcemia
OMIM:241410	TBCE	6905	HP:0000233	Thin vermilion border
OMIM:241410	TBCE	6905	HP:0002750	Delayed skeletal maturation
OMIM:241410	TBCE	6905	HP:0001250	Seizures
OMIM:241410	TBCE	6905	HP:0000358	Posteriorly rotated ears
OMIM:241410	TBCE	6905	HP:0002007	Frontal bossing
OMIM:241410	TBCE	6905	HP:0000347	Micrognathia
OMIM:241410	TBCE	6905	HP:0002119	Ventriculomegaly
OMIM:241410	TBCE	6905	HP:0001249	Intellectual disability
OMIM:241410	TBCE	6905	HP:0011220	Prominent forehead
OMIM:241410	TBCE	6905	HP:0000028	Cryptorchidism
OMIM:241410	TBCE	6905	HP:0001281	Tetany
OMIM:241410	TBCE	6905	HP:0011001	Increased bone mineral density
OMIM:241410	TBCE	6905	HP:0005214	Intestinal obstruction
OMIM:241410	TBCE	6905	HP:0000007	Autosomal recessive inheritance
OMIM:241410	TBCE	6905	HP:0000483	Astigmatism
OMIM:241410	TBCE	6905	HP:0004322	Short stature
OMIM:241410	TBCE	6905	HP:0003198	Myopathy
OMIM:241410	TBCE	6905	HP:0002905	Hyperphosphatemia
OMIM:241410	TBCE	6905	HP:0000348	High forehead
OMIM:241410	TBCE	6905	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:241410	TBCE	6905	HP:0000193	Bifid uvula
OMIM:241410	TBCE	6905	HP:0007759	Opacification of the corneal stroma
OMIM:241410	TBCE	6905	HP:0001511	Intrauterine growth retardation
OMIM:241410	TBCE	6905	HP:0002205	Recurrent respiratory infections
OMIM:241410	TBCE	6905	HP:0008736	Hypoplasia of penis
OMIM:241410	TBCE	6905	HP:0000682	Abnormality of dental enamel
OMIM:241410	TBCE	6905	HP:0005374	Cellular immunodeficiency
OMIM:241410	TBCE	6905	HP:0008897	Postnatal growth retardation
OMIM:241410	TBCE	6905	HP:0000054	Micropenis
OMIM:241410	TBCE	6905	HP:0000368	Low-set, posteriorly rotated ears
OMIM:616217	DCDC2	51473	HP:0001744	Splenomegaly
OMIM:616217	DCDC2	51473	HP:0001396	Cholestasis
OMIM:616217	DCDC2	51473	HP:0002240	Hepatomegaly
OMIM:616217	DCDC2	51473	HP:0001408	Bile duct proliferation
OMIM:616217	DCDC2	51473	HP:0001395	Hepatic fibrosis
OMIM:611809	BEST1	7439	HP:0007722	Retinal pigment epithelial atrophy
OMIM:611809	BEST1	7439	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:611809	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:611809	BEST1	7439	HP:0012045	Retinal flecks
OMIM:611809	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:611809	BEST1	7439	HP:0000540	Hypermetropia
OMIM:113800	KRT10	3858	HP:0040189	Scaling skin
OMIM:113800	KRT10	3858	HP:0001019	Erythroderma
OMIM:113800	KRT10	3858	HP:0000006	Autosomal dominant inheritance
OMIM:113800	KRT1	3848	HP:0040189	Scaling skin
OMIM:113800	KRT1	3848	HP:0001019	Erythroderma
OMIM:113800	KRT1	3848	HP:0000006	Autosomal dominant inheritance
OMIM:220210	CCDC22	28952	HP:0000238	Hydrocephalus
OMIM:220210	CCDC22	28952	HP:0000348	High forehead
OMIM:220210	CCDC22	28952	HP:0002023	Anal atresia
OMIM:220210	CCDC22	28952	HP:0001631	Atria septal defect
OMIM:220210	CCDC22	28952	HP:0002162	Low posterior hairline
OMIM:220210	CCDC22	28952	HP:0000824	Growth hormone deficiency
OMIM:220210	CCDC22	28952	HP:0001159	Syndactyly
OMIM:220210	CCDC22	28952	HP:0001650	Aortic valve stenosis
OMIM:220210	CCDC22	28952	HP:0001511	Intrauterine growth retardation
OMIM:220210	CCDC22	28952	HP:0005280	Depressed nasal bridge
OMIM:220210	CCDC22	28952	HP:0001305	Dandy-Walker malformation
OMIM:220210	CCDC22	28952	HP:0000175	Cleft palate
OMIM:220210	CCDC22	28952	HP:0000494	Downslanted palpebral fissures
OMIM:220210	CCDC22	28952	HP:0000835	Adrenal hypoplasia
OMIM:220210	CCDC22	28952	HP:0000337	Broad forehead
OMIM:220210	CCDC22	28952	HP:0001252	Muscular hypotonia
OMIM:220210	CCDC22	28952	HP:0001263	Global developmental delay
OMIM:220210	CCDC22	28952	HP:0000007	Autosomal recessive inheritance
OMIM:220210	CCDC22	28952	HP:0004383	Hypoplastic left heart
OMIM:220210	CCDC22	28952	HP:0000316	Hypertelorism
OMIM:220210	CCDC22	28952	HP:0001642	Pulmonic stenosis
OMIM:220210	CCDC22	28952	HP:0001719	Double outlet right ventricle
OMIM:220210	CCDC22	28952	HP:0007291	Posterior fossa cyst
OMIM:220210	CCDC22	28952	HP:0000589	Coloboma
OMIM:220210	CCDC22	28952	HP:0001636	Tetralogy of Fallot
OMIM:220210	CCDC22	28952	HP:0001629	Ventricular septal defect
OMIM:220210	CCDC22	28952	HP:0000347	Micrognathia
OMIM:220210	CCDC22	28952	HP:0000269	Prominent occiput
OMIM:220210	CCDC22	28952	HP:0002937	Hemivertebrae
OMIM:220210	CCDC22	28952	HP:0000248	Brachycephaly
OMIM:220210	CCDC22	28952	HP:0000047	Hypospadias
OMIM:220210	CCDC22	28952	HP:0000369	Low-set ears
OMIM:220210	CCDC22	28952	HP:0000921	Missing ribs
OMIM:220210	CCDC22	28952	HP:0000126	Hydronephrosis
OMIM:220210	KIAA0196	9897	HP:0000238	Hydrocephalus
OMIM:220210	KIAA0196	9897	HP:0000348	High forehead
OMIM:220210	KIAA0196	9897	HP:0002023	Anal atresia
OMIM:220210	KIAA0196	9897	HP:0001631	Atria septal defect
OMIM:220210	KIAA0196	9897	HP:0002162	Low posterior hairline
OMIM:220210	KIAA0196	9897	HP:0000824	Growth hormone deficiency
OMIM:220210	KIAA0196	9897	HP:0001159	Syndactyly
OMIM:220210	KIAA0196	9897	HP:0001650	Aortic valve stenosis
OMIM:220210	KIAA0196	9897	HP:0001511	Intrauterine growth retardation
OMIM:220210	KIAA0196	9897	HP:0005280	Depressed nasal bridge
OMIM:220210	KIAA0196	9897	HP:0001305	Dandy-Walker malformation
OMIM:220210	KIAA0196	9897	HP:0000175	Cleft palate
OMIM:220210	KIAA0196	9897	HP:0000494	Downslanted palpebral fissures
OMIM:220210	KIAA0196	9897	HP:0000835	Adrenal hypoplasia
OMIM:220210	KIAA0196	9897	HP:0000337	Broad forehead
OMIM:220210	KIAA0196	9897	HP:0001252	Muscular hypotonia
OMIM:220210	KIAA0196	9897	HP:0001263	Global developmental delay
OMIM:220210	KIAA0196	9897	HP:0000007	Autosomal recessive inheritance
OMIM:220210	KIAA0196	9897	HP:0004383	Hypoplastic left heart
OMIM:220210	KIAA0196	9897	HP:0000316	Hypertelorism
OMIM:220210	KIAA0196	9897	HP:0001642	Pulmonic stenosis
OMIM:220210	KIAA0196	9897	HP:0001719	Double outlet right ventricle
OMIM:220210	KIAA0196	9897	HP:0007291	Posterior fossa cyst
OMIM:220210	KIAA0196	9897	HP:0000589	Coloboma
OMIM:220210	KIAA0196	9897	HP:0001636	Tetralogy of Fallot
OMIM:220210	KIAA0196	9897	HP:0001629	Ventricular septal defect
OMIM:220210	KIAA0196	9897	HP:0000347	Micrognathia
OMIM:220210	KIAA0196	9897	HP:0000269	Prominent occiput
OMIM:220210	KIAA0196	9897	HP:0002937	Hemivertebrae
OMIM:220210	KIAA0196	9897	HP:0000248	Brachycephaly
OMIM:220210	KIAA0196	9897	HP:0000047	Hypospadias
OMIM:220210	KIAA0196	9897	HP:0000369	Low-set ears
OMIM:220210	KIAA0196	9897	HP:0000921	Missing ribs
OMIM:220210	KIAA0196	9897	HP:0000126	Hydronephrosis
OMIM:613951	FANCC	2176	HP:0000347	Micrognathia
OMIM:613951	FANCC	2176	HP:0002860	Squamous cell carcinoma
OMIM:613951	FANCC	2176	HP:0000252	Microcephaly
OMIM:613951	FANCC	2176	HP:0000957	Cafe-au-lait spot
OMIM:613951	FANCC	2176	HP:0000007	Autosomal recessive inheritance
OMIM:613951	FANCC	2176	HP:0001903	Anemia
OMIM:613951	FANCC	2176	HP:0004322	Short stature
OMIM:613951	FANCC	2176	HP:0003828	Variable expressivity
OMIM:613951	FANCC	2176	HP:0000581	Blepharophimosis
OMIM:613951	FANCC	2176	HP:0002984	Hypoplasia of the radius
OMIM:613951	FANCC	2176	HP:0001045	Vitiligo
OMIM:613951	FANCC	2176	HP:0009778	Short thumb
OMIM:613951	FANCC	2176	HP:0000414	Bulbous nose
OMIM:613951	FANCC	2176	HP:0000125	Pelvic kidney
OMIM:613951	FANCC	2176	HP:0009777	Absent thumb
OMIM:613951	FANCC	2176	HP:0000365	Hearing impairment
OMIM:613951	FANCC	2176	HP:0000085	Horseshoe kidney
OMIM:613951	FANCC	2176	HP:0012745	Short palpebral fissure
OMIM:613951	FANCC	2176	HP:0000028	Cryptorchidism
OMIM:613951	FANCD2	2177	HP:0000347	Micrognathia
OMIM:613951	FANCD2	2177	HP:0002860	Squamous cell carcinoma
OMIM:613951	FANCD2	2177	HP:0000252	Microcephaly
OMIM:613951	FANCD2	2177	HP:0000957	Cafe-au-lait spot
OMIM:613951	FANCD2	2177	HP:0000007	Autosomal recessive inheritance
OMIM:613951	FANCD2	2177	HP:0001903	Anemia
OMIM:613951	FANCD2	2177	HP:0004322	Short stature
OMIM:613951	FANCD2	2177	HP:0003828	Variable expressivity
OMIM:613951	FANCD2	2177	HP:0000581	Blepharophimosis
OMIM:613951	FANCD2	2177	HP:0002984	Hypoplasia of the radius
OMIM:613951	FANCD2	2177	HP:0001045	Vitiligo
OMIM:613951	FANCD2	2177	HP:0009778	Short thumb
OMIM:613951	FANCD2	2177	HP:0000414	Bulbous nose
OMIM:613951	FANCD2	2177	HP:0000125	Pelvic kidney
OMIM:613951	FANCD2	2177	HP:0009777	Absent thumb
OMIM:613951	FANCD2	2177	HP:0000365	Hearing impairment
OMIM:613951	FANCD2	2177	HP:0000085	Horseshoe kidney
OMIM:613951	FANCD2	2177	HP:0012745	Short palpebral fissure
OMIM:613951	FANCD2	2177	HP:0000028	Cryptorchidism
OMIM:613951	FANCM	57697	HP:0000347	Micrognathia
OMIM:613951	FANCM	57697	HP:0002860	Squamous cell carcinoma
OMIM:613951	FANCM	57697	HP:0000252	Microcephaly
OMIM:613951	FANCM	57697	HP:0000957	Cafe-au-lait spot
OMIM:613951	FANCM	57697	HP:0000007	Autosomal recessive inheritance
OMIM:613951	FANCM	57697	HP:0001903	Anemia
OMIM:613951	FANCM	57697	HP:0004322	Short stature
OMIM:613951	FANCM	57697	HP:0003828	Variable expressivity
OMIM:613951	FANCM	57697	HP:0000581	Blepharophimosis
OMIM:613951	FANCM	57697	HP:0002984	Hypoplasia of the radius
OMIM:613951	FANCM	57697	HP:0001045	Vitiligo
OMIM:613951	FANCM	57697	HP:0009778	Short thumb
OMIM:613951	FANCM	57697	HP:0000414	Bulbous nose
OMIM:613951	FANCM	57697	HP:0000125	Pelvic kidney
OMIM:613951	FANCM	57697	HP:0009777	Absent thumb
OMIM:613951	FANCM	57697	HP:0000365	Hearing impairment
OMIM:613951	FANCM	57697	HP:0000085	Horseshoe kidney
OMIM:613951	FANCM	57697	HP:0012745	Short palpebral fissure
OMIM:613951	FANCM	57697	HP:0000028	Cryptorchidism
OMIM:613951	RAD51C	5889	HP:0000347	Micrognathia
OMIM:613951	RAD51C	5889	HP:0002860	Squamous cell carcinoma
OMIM:613951	RAD51C	5889	HP:0000252	Microcephaly
OMIM:613951	RAD51C	5889	HP:0000957	Cafe-au-lait spot
OMIM:613951	RAD51C	5889	HP:0000007	Autosomal recessive inheritance
OMIM:613951	RAD51C	5889	HP:0001903	Anemia
OMIM:613951	RAD51C	5889	HP:0004322	Short stature
OMIM:613951	RAD51C	5889	HP:0003828	Variable expressivity
OMIM:613951	RAD51C	5889	HP:0000581	Blepharophimosis
OMIM:613951	RAD51C	5889	HP:0002984	Hypoplasia of the radius
OMIM:613951	RAD51C	5889	HP:0001045	Vitiligo
OMIM:613951	RAD51C	5889	HP:0009778	Short thumb
OMIM:613951	RAD51C	5889	HP:0000414	Bulbous nose
OMIM:613951	RAD51C	5889	HP:0000125	Pelvic kidney
OMIM:613951	RAD51C	5889	HP:0009777	Absent thumb
OMIM:613951	RAD51C	5889	HP:0000365	Hearing impairment
OMIM:613951	RAD51C	5889	HP:0000085	Horseshoe kidney
OMIM:613951	RAD51C	5889	HP:0012745	Short palpebral fissure
OMIM:613951	RAD51C	5889	HP:0000028	Cryptorchidism
OMIM:613951	UBE2T	29089	HP:0000347	Micrognathia
OMIM:613951	UBE2T	29089	HP:0002860	Squamous cell carcinoma
OMIM:613951	UBE2T	29089	HP:0000252	Microcephaly
OMIM:613951	UBE2T	29089	HP:0000957	Cafe-au-lait spot
OMIM:613951	UBE2T	29089	HP:0000007	Autosomal recessive inheritance
OMIM:613951	UBE2T	29089	HP:0001903	Anemia
OMIM:613951	UBE2T	29089	HP:0004322	Short stature
OMIM:613951	UBE2T	29089	HP:0003828	Variable expressivity
OMIM:613951	UBE2T	29089	HP:0000581	Blepharophimosis
OMIM:613951	UBE2T	29089	HP:0002984	Hypoplasia of the radius
OMIM:613951	UBE2T	29089	HP:0001045	Vitiligo
OMIM:613951	UBE2T	29089	HP:0009778	Short thumb
OMIM:613951	UBE2T	29089	HP:0000414	Bulbous nose
OMIM:613951	UBE2T	29089	HP:0000125	Pelvic kidney
OMIM:613951	UBE2T	29089	HP:0009777	Absent thumb
OMIM:613951	UBE2T	29089	HP:0000365	Hearing impairment
OMIM:613951	UBE2T	29089	HP:0000085	Horseshoe kidney
OMIM:613951	UBE2T	29089	HP:0012745	Short palpebral fissure
OMIM:613951	UBE2T	29089	HP:0000028	Cryptorchidism
OMIM:613951	FANCE	2178	HP:0000347	Micrognathia
OMIM:613951	FANCE	2178	HP:0002860	Squamous cell carcinoma
OMIM:613951	FANCE	2178	HP:0000252	Microcephaly
OMIM:613951	FANCE	2178	HP:0000957	Cafe-au-lait spot
OMIM:613951	FANCE	2178	HP:0000007	Autosomal recessive inheritance
OMIM:613951	FANCE	2178	HP:0001903	Anemia
OMIM:613951	FANCE	2178	HP:0004322	Short stature
OMIM:613951	FANCE	2178	HP:0003828	Variable expressivity
OMIM:613951	FANCE	2178	HP:0000581	Blepharophimosis
OMIM:613951	FANCE	2178	HP:0002984	Hypoplasia of the radius
OMIM:613951	FANCE	2178	HP:0001045	Vitiligo
OMIM:613951	FANCE	2178	HP:0009778	Short thumb
OMIM:613951	FANCE	2178	HP:0000414	Bulbous nose
OMIM:613951	FANCE	2178	HP:0000125	Pelvic kidney
OMIM:613951	FANCE	2178	HP:0009777	Absent thumb
OMIM:613951	FANCE	2178	HP:0000365	Hearing impairment
OMIM:613951	FANCE	2178	HP:0000085	Horseshoe kidney
OMIM:613951	FANCE	2178	HP:0012745	Short palpebral fissure
OMIM:613951	FANCE	2178	HP:0000028	Cryptorchidism
OMIM:613951	BRCA2	675	HP:0000347	Micrognathia
OMIM:613951	BRCA2	675	HP:0002860	Squamous cell carcinoma
OMIM:613951	BRCA2	675	HP:0000252	Microcephaly
OMIM:613951	BRCA2	675	HP:0000957	Cafe-au-lait spot
OMIM:613951	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:613951	BRCA2	675	HP:0001903	Anemia
OMIM:613951	BRCA2	675	HP:0004322	Short stature
OMIM:613951	BRCA2	675	HP:0003828	Variable expressivity
OMIM:613951	BRCA2	675	HP:0000581	Blepharophimosis
OMIM:613951	BRCA2	675	HP:0002984	Hypoplasia of the radius
OMIM:613951	BRCA2	675	HP:0001045	Vitiligo
OMIM:613951	BRCA2	675	HP:0009778	Short thumb
OMIM:613951	BRCA2	675	HP:0000414	Bulbous nose
OMIM:613951	BRCA2	675	HP:0000125	Pelvic kidney
OMIM:613951	BRCA2	675	HP:0009777	Absent thumb
OMIM:613951	BRCA2	675	HP:0000365	Hearing impairment
OMIM:613951	BRCA2	675	HP:0000085	Horseshoe kidney
OMIM:613951	BRCA2	675	HP:0012745	Short palpebral fissure
OMIM:613951	BRCA2	675	HP:0000028	Cryptorchidism
OMIM:613951	FANCB	2187	HP:0000347	Micrognathia
OMIM:613951	FANCB	2187	HP:0002860	Squamous cell carcinoma
OMIM:613951	FANCB	2187	HP:0000252	Microcephaly
OMIM:613951	FANCB	2187	HP:0000957	Cafe-au-lait spot
OMIM:613951	FANCB	2187	HP:0000007	Autosomal recessive inheritance
OMIM:613951	FANCB	2187	HP:0001903	Anemia
OMIM:613951	FANCB	2187	HP:0004322	Short stature
OMIM:613951	FANCB	2187	HP:0003828	Variable expressivity
OMIM:613951	FANCB	2187	HP:0000581	Blepharophimosis
OMIM:613951	FANCB	2187	HP:0002984	Hypoplasia of the radius
OMIM:613951	FANCB	2187	HP:0001045	Vitiligo
OMIM:613951	FANCB	2187	HP:0009778	Short thumb
OMIM:613951	FANCB	2187	HP:0000414	Bulbous nose
OMIM:613951	FANCB	2187	HP:0000125	Pelvic kidney
OMIM:613951	FANCB	2187	HP:0009777	Absent thumb
OMIM:613951	FANCB	2187	HP:0000365	Hearing impairment
OMIM:613951	FANCB	2187	HP:0000085	Horseshoe kidney
OMIM:613951	FANCB	2187	HP:0012745	Short palpebral fissure
OMIM:613951	FANCB	2187	HP:0000028	Cryptorchidism
OMIM:613951	FANCF	2188	HP:0000347	Micrognathia
OMIM:613951	FANCF	2188	HP:0002860	Squamous cell carcinoma
OMIM:613951	FANCF	2188	HP:0000252	Microcephaly
OMIM:613951	FANCF	2188	HP:0000957	Cafe-au-lait spot
OMIM:613951	FANCF	2188	HP:0000007	Autosomal recessive inheritance
OMIM:613951	FANCF	2188	HP:0001903	Anemia
OMIM:613951	FANCF	2188	HP:0004322	Short stature
OMIM:613951	FANCF	2188	HP:0003828	Variable expressivity
OMIM:613951	FANCF	2188	HP:0000581	Blepharophimosis
OMIM:613951	FANCF	2188	HP:0002984	Hypoplasia of the radius
OMIM:613951	FANCF	2188	HP:0001045	Vitiligo
OMIM:613951	FANCF	2188	HP:0009778	Short thumb
OMIM:613951	FANCF	2188	HP:0000414	Bulbous nose
OMIM:613951	FANCF	2188	HP:0000125	Pelvic kidney
OMIM:613951	FANCF	2188	HP:0009777	Absent thumb
OMIM:613951	FANCF	2188	HP:0000365	Hearing impairment
OMIM:613951	FANCF	2188	HP:0000085	Horseshoe kidney
OMIM:613951	FANCF	2188	HP:0012745	Short palpebral fissure
OMIM:613951	FANCF	2188	HP:0000028	Cryptorchidism
OMIM:613951	FANCG	2189	HP:0000347	Micrognathia
OMIM:613951	FANCG	2189	HP:0002860	Squamous cell carcinoma
OMIM:613951	FANCG	2189	HP:0000252	Microcephaly
OMIM:613951	FANCG	2189	HP:0000957	Cafe-au-lait spot
OMIM:613951	FANCG	2189	HP:0000007	Autosomal recessive inheritance
OMIM:613951	FANCG	2189	HP:0001903	Anemia
OMIM:613951	FANCG	2189	HP:0004322	Short stature
OMIM:613951	FANCG	2189	HP:0003828	Variable expressivity
OMIM:613951	FANCG	2189	HP:0000581	Blepharophimosis
OMIM:613951	FANCG	2189	HP:0002984	Hypoplasia of the radius
OMIM:613951	FANCG	2189	HP:0001045	Vitiligo
OMIM:613951	FANCG	2189	HP:0009778	Short thumb
OMIM:613951	FANCG	2189	HP:0000414	Bulbous nose
OMIM:613951	FANCG	2189	HP:0000125	Pelvic kidney
OMIM:613951	FANCG	2189	HP:0009777	Absent thumb
OMIM:613951	FANCG	2189	HP:0000365	Hearing impairment
OMIM:613951	FANCG	2189	HP:0000085	Horseshoe kidney
OMIM:613951	FANCG	2189	HP:0012745	Short palpebral fissure
OMIM:613951	FANCG	2189	HP:0000028	Cryptorchidism
OMIM:613951	FANCI	55215	HP:0000347	Micrognathia
OMIM:613951	FANCI	55215	HP:0002860	Squamous cell carcinoma
OMIM:613951	FANCI	55215	HP:0000252	Microcephaly
OMIM:613951	FANCI	55215	HP:0000957	Cafe-au-lait spot
OMIM:613951	FANCI	55215	HP:0000007	Autosomal recessive inheritance
OMIM:613951	FANCI	55215	HP:0001903	Anemia
OMIM:613951	FANCI	55215	HP:0004322	Short stature
OMIM:613951	FANCI	55215	HP:0003828	Variable expressivity
OMIM:613951	FANCI	55215	HP:0000581	Blepharophimosis
OMIM:613951	FANCI	55215	HP:0002984	Hypoplasia of the radius
OMIM:613951	FANCI	55215	HP:0001045	Vitiligo
OMIM:613951	FANCI	55215	HP:0009778	Short thumb
OMIM:613951	FANCI	55215	HP:0000414	Bulbous nose
OMIM:613951	FANCI	55215	HP:0000125	Pelvic kidney
OMIM:613951	FANCI	55215	HP:0009777	Absent thumb
OMIM:613951	FANCI	55215	HP:0000365	Hearing impairment
OMIM:613951	FANCI	55215	HP:0000085	Horseshoe kidney
OMIM:613951	FANCI	55215	HP:0012745	Short palpebral fissure
OMIM:613951	FANCI	55215	HP:0000028	Cryptorchidism
OMIM:613951	FANCL	55120	HP:0000347	Micrognathia
OMIM:613951	FANCL	55120	HP:0002860	Squamous cell carcinoma
OMIM:613951	FANCL	55120	HP:0000252	Microcephaly
OMIM:613951	FANCL	55120	HP:0000957	Cafe-au-lait spot
OMIM:613951	FANCL	55120	HP:0000007	Autosomal recessive inheritance
OMIM:613951	FANCL	55120	HP:0001903	Anemia
OMIM:613951	FANCL	55120	HP:0004322	Short stature
OMIM:613951	FANCL	55120	HP:0003828	Variable expressivity
OMIM:613951	FANCL	55120	HP:0000581	Blepharophimosis
OMIM:613951	FANCL	55120	HP:0002984	Hypoplasia of the radius
OMIM:613951	FANCL	55120	HP:0001045	Vitiligo
OMIM:613951	FANCL	55120	HP:0009778	Short thumb
OMIM:613951	FANCL	55120	HP:0000414	Bulbous nose
OMIM:613951	FANCL	55120	HP:0000125	Pelvic kidney
OMIM:613951	FANCL	55120	HP:0009777	Absent thumb
OMIM:613951	FANCL	55120	HP:0000365	Hearing impairment
OMIM:613951	FANCL	55120	HP:0000085	Horseshoe kidney
OMIM:613951	FANCL	55120	HP:0012745	Short palpebral fissure
OMIM:613951	FANCL	55120	HP:0000028	Cryptorchidism
OMIM:613951	SLX4	84464	HP:0000347	Micrognathia
OMIM:613951	SLX4	84464	HP:0002860	Squamous cell carcinoma
OMIM:613951	SLX4	84464	HP:0000252	Microcephaly
OMIM:613951	SLX4	84464	HP:0000957	Cafe-au-lait spot
OMIM:613951	SLX4	84464	HP:0000007	Autosomal recessive inheritance
OMIM:613951	SLX4	84464	HP:0001903	Anemia
OMIM:613951	SLX4	84464	HP:0004322	Short stature
OMIM:613951	SLX4	84464	HP:0003828	Variable expressivity
OMIM:613951	SLX4	84464	HP:0000581	Blepharophimosis
OMIM:613951	SLX4	84464	HP:0002984	Hypoplasia of the radius
OMIM:613951	SLX4	84464	HP:0001045	Vitiligo
OMIM:613951	SLX4	84464	HP:0009778	Short thumb
OMIM:613951	SLX4	84464	HP:0000414	Bulbous nose
OMIM:613951	SLX4	84464	HP:0000125	Pelvic kidney
OMIM:613951	SLX4	84464	HP:0009777	Absent thumb
OMIM:613951	SLX4	84464	HP:0000365	Hearing impairment
OMIM:613951	SLX4	84464	HP:0000085	Horseshoe kidney
OMIM:613951	SLX4	84464	HP:0012745	Short palpebral fissure
OMIM:613951	SLX4	84464	HP:0000028	Cryptorchidism
OMIM:613951	PALB2	79728	HP:0000347	Micrognathia
OMIM:613951	PALB2	79728	HP:0002860	Squamous cell carcinoma
OMIM:613951	PALB2	79728	HP:0000252	Microcephaly
OMIM:613951	PALB2	79728	HP:0000957	Cafe-au-lait spot
OMIM:613951	PALB2	79728	HP:0000007	Autosomal recessive inheritance
OMIM:613951	PALB2	79728	HP:0001903	Anemia
OMIM:613951	PALB2	79728	HP:0004322	Short stature
OMIM:613951	PALB2	79728	HP:0003828	Variable expressivity
OMIM:613951	PALB2	79728	HP:0000581	Blepharophimosis
OMIM:613951	PALB2	79728	HP:0002984	Hypoplasia of the radius
OMIM:613951	PALB2	79728	HP:0001045	Vitiligo
OMIM:613951	PALB2	79728	HP:0009778	Short thumb
OMIM:613951	PALB2	79728	HP:0000414	Bulbous nose
OMIM:613951	PALB2	79728	HP:0000125	Pelvic kidney
OMIM:613951	PALB2	79728	HP:0009777	Absent thumb
OMIM:613951	PALB2	79728	HP:0000365	Hearing impairment
OMIM:613951	PALB2	79728	HP:0000085	Horseshoe kidney
OMIM:613951	PALB2	79728	HP:0012745	Short palpebral fissure
OMIM:613951	PALB2	79728	HP:0000028	Cryptorchidism
OMIM:613951	BRIP1	83990	HP:0000347	Micrognathia
OMIM:613951	BRIP1	83990	HP:0002860	Squamous cell carcinoma
OMIM:613951	BRIP1	83990	HP:0000252	Microcephaly
OMIM:613951	BRIP1	83990	HP:0000957	Cafe-au-lait spot
OMIM:613951	BRIP1	83990	HP:0000007	Autosomal recessive inheritance
OMIM:613951	BRIP1	83990	HP:0001903	Anemia
OMIM:613951	BRIP1	83990	HP:0004322	Short stature
OMIM:613951	BRIP1	83990	HP:0003828	Variable expressivity
OMIM:613951	BRIP1	83990	HP:0000581	Blepharophimosis
OMIM:613951	BRIP1	83990	HP:0002984	Hypoplasia of the radius
OMIM:613951	BRIP1	83990	HP:0001045	Vitiligo
OMIM:613951	BRIP1	83990	HP:0009778	Short thumb
OMIM:613951	BRIP1	83990	HP:0000414	Bulbous nose
OMIM:613951	BRIP1	83990	HP:0000125	Pelvic kidney
OMIM:613951	BRIP1	83990	HP:0009777	Absent thumb
OMIM:613951	BRIP1	83990	HP:0000365	Hearing impairment
OMIM:613951	BRIP1	83990	HP:0000085	Horseshoe kidney
OMIM:613951	BRIP1	83990	HP:0012745	Short palpebral fissure
OMIM:613951	BRIP1	83990	HP:0000028	Cryptorchidism
OMIM:613951	ERCC4	2072	HP:0000347	Micrognathia
OMIM:613951	ERCC4	2072	HP:0002860	Squamous cell carcinoma
OMIM:613951	ERCC4	2072	HP:0000252	Microcephaly
OMIM:613951	ERCC4	2072	HP:0000957	Cafe-au-lait spot
OMIM:613951	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:613951	ERCC4	2072	HP:0001903	Anemia
OMIM:613951	ERCC4	2072	HP:0004322	Short stature
OMIM:613951	ERCC4	2072	HP:0003828	Variable expressivity
OMIM:613951	ERCC4	2072	HP:0000581	Blepharophimosis
OMIM:613951	ERCC4	2072	HP:0002984	Hypoplasia of the radius
OMIM:613951	ERCC4	2072	HP:0001045	Vitiligo
OMIM:613951	ERCC4	2072	HP:0009778	Short thumb
OMIM:613951	ERCC4	2072	HP:0000414	Bulbous nose
OMIM:613951	ERCC4	2072	HP:0000125	Pelvic kidney
OMIM:613951	ERCC4	2072	HP:0009777	Absent thumb
OMIM:613951	ERCC4	2072	HP:0000365	Hearing impairment
OMIM:613951	ERCC4	2072	HP:0000085	Horseshoe kidney
OMIM:613951	ERCC4	2072	HP:0012745	Short palpebral fissure
OMIM:613951	ERCC4	2072	HP:0000028	Cryptorchidism
OMIM:613951	FANCA	2175	HP:0000347	Micrognathia
OMIM:613951	FANCA	2175	HP:0002860	Squamous cell carcinoma
OMIM:613951	FANCA	2175	HP:0000252	Microcephaly
OMIM:613951	FANCA	2175	HP:0000957	Cafe-au-lait spot
OMIM:613951	FANCA	2175	HP:0000007	Autosomal recessive inheritance
OMIM:613951	FANCA	2175	HP:0001903	Anemia
OMIM:613951	FANCA	2175	HP:0004322	Short stature
OMIM:613951	FANCA	2175	HP:0003828	Variable expressivity
OMIM:613951	FANCA	2175	HP:0000581	Blepharophimosis
OMIM:613951	FANCA	2175	HP:0002984	Hypoplasia of the radius
OMIM:613951	FANCA	2175	HP:0001045	Vitiligo
OMIM:613951	FANCA	2175	HP:0009778	Short thumb
OMIM:613951	FANCA	2175	HP:0000414	Bulbous nose
OMIM:613951	FANCA	2175	HP:0000125	Pelvic kidney
OMIM:613951	FANCA	2175	HP:0009777	Absent thumb
OMIM:613951	FANCA	2175	HP:0000365	Hearing impairment
OMIM:613951	FANCA	2175	HP:0000085	Horseshoe kidney
OMIM:613951	FANCA	2175	HP:0012745	Short palpebral fissure
OMIM:613951	FANCA	2175	HP:0000028	Cryptorchidism
OMIM:240900	AKT2	208	HP:0001250	Seizures
OMIM:240900	AKT2	208	HP:0001956	Truncal obesity
OMIM:240900	AKT2	208	HP:0000006	Autosomal dominant inheritance
OMIM:240900	AKT2	208	HP:0000007	Autosomal recessive inheritance
OMIM:235730	ZEB2	9839	HP:0000028	Cryptorchidism
OMIM:235730	ZEB2	9839	HP:0000684	Delayed eruption of teeth
OMIM:235730	ZEB2	9839	HP:0000494	Downslanted palpebral fissures
OMIM:235730	ZEB2	9839	HP:0001252	Muscular hypotonia
OMIM:235730	ZEB2	9839	HP:0002251	Aganglionic megacolon
OMIM:235730	ZEB2	9839	HP:0002342	Intellectual disability, moderate
OMIM:235730	ZEB2	9839	HP:0000348	High forehead
OMIM:235730	ZEB2	9839	HP:0004322	Short stature
OMIM:235730	ZEB2	9839	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:235730	ZEB2	9839	HP:0000508	Ptosis
OMIM:235730	ZEB2	9839	HP:0001643	Patent ductus arteriosus
OMIM:235730	ZEB2	9839	HP:0000768	Pectus carinatum
OMIM:235730	ZEB2	9839	HP:0000076	Vesicoureteral reflux
OMIM:235730	ZEB2	9839	HP:0000232	Everted lower lip vermilion
OMIM:235730	ZEB2	9839	HP:0000047	Hypospadias
OMIM:235730	ZEB2	9839	HP:0000252	Microcephaly
OMIM:235730	ZEB2	9839	HP:0000316	Hypertelorism
OMIM:235730	ZEB2	9839	HP:0006101	Finger syndactyly
OMIM:235730	ZEB2	9839	HP:0000048	Bifid scrotum
OMIM:235730	ZEB2	9839	HP:0001250	Seizures
OMIM:235730	ZEB2	9839	HP:0000612	Iris coloboma
OMIM:235730	ZEB2	9839	HP:0000490	Deeply set eye
OMIM:235730	ZEB2	9839	HP:0001182	Tapered finger
OMIM:235730	ZEB2	9839	HP:0002013	Vomiting
OMIM:235730	ZEB2	9839	HP:0100542	Abnormal localization of kidney
OMIM:235730	ZEB2	9839	HP:0000176	Submucous cleft hard palate
OMIM:235730	ZEB2	9839	HP:0000368	Low-set, posteriorly rotated ears
OMIM:235730	ZEB2	9839	HP:0010761	Broad columella
OMIM:235730	ZEB2	9839	HP:0000006	Autosomal dominant inheritance
OMIM:235730	ZEB2	9839	HP:0000286	Epicanthus
OMIM:235730	ZEB2	9839	HP:0000431	Wide nasal bridge
OMIM:235730	ZEB2	9839	HP:0002119	Ventriculomegaly
OMIM:235730	ZEB2	9839	HP:0001631	Atria septal defect
OMIM:235730	ZEB2	9839	HP:0002019	Constipation
OMIM:235730	ZEB2	9839	HP:0000486	Strabismus
OMIM:235730	ZEB2	9839	HP:0004415	Pulmonary artery stenosis
OMIM:235730	ZEB2	9839	HP:0001822	Hallux valgus
OMIM:235730	ZEB2	9839	HP:0001629	Ventricular septal defect
OMIM:235730	ZEB2	9839	HP:0100543	Cognitive impairment
OMIM:235730	ZEB2	9839	HP:0000307	Pointed chin
OMIM:235730	ZEB2	9839	HP:0004298	Abnormality of the abdominal wall
OMIM:235730	ZEB2	9839	HP:0000194	Open mouth
OMIM:235730	ZEB2	9839	HP:0000767	Pectus excavatum
OMIM:235730	ZEB2	9839	HP:0000378	Cupped ear
OMIM:235730	ZEB2	9839	HP:0001270	Motor delay
OMIM:235730	ZEB2	9839	HP:0002213	Fine hair
OMIM:235730	ZEB2	9839	HP:0000204	Cleft upper lip
OMIM:235730	ZEB2	9839	HP:0001547	Abnormality of the rib cage
OMIM:235730	ZEB2	9839	HP:0000534	Abnormality of the eyebrow
OMIM:235730	ZEB2	9839	HP:0002120	Cerebral cortical atrophy
OMIM:235730	ZEB2	9839	HP:0002307	Drooling
OMIM:235730	ZEB2	9839	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:235730	ZEB2	9839	HP:0002558	Supernumerary nipple
OMIM:235730	ZEB2	9839	HP:0000639	Nystagmus
OMIM:235730	ZEB2	9839	HP:0000687	Widely spaced teeth
OMIM:235730	ZEB2	9839	HP:0001642	Pulmonic stenosis
OMIM:235730	ZEB2	9839	HP:0009909	Uplifted earlobe
OMIM:235730	ZEB2	9839	HP:0100627	Displacement of the external urethral meatus
OMIM:235730	ZEB2	9839	HP:0001636	Tetralogy of Fallot
OMIM:235730	ZEB2	9839	HP:0001344	Absent speech
OMIM:235730	ZEB2	9839	HP:0000565	Esotropia
OMIM:235730	ZEB2	9839	HP:0001274	Agenesis of corpus callosum
OMIM:235730	ZEB2	9839	HP:0001249	Intellectual disability
OMIM:235730	ZEB2	9839	HP:0002079	Hypoplasia of the corpus callosum
OMIM:235730	ZEB2	9839	HP:0009748	Large earlobe
OMIM:235730	ZEB2	9839	HP:0008572	External ear malformation
OMIM:235730	ZEB2	9839	HP:0001841	Preaxial foot polydactyly
OMIM:235730	ZEB2	9839	HP:0100490	Camptodactyly of finger
OMIM:235730	ZEB2	9839	HP:0011229	Broad eyebrow
OMIM:235730	ZEB2	9839	HP:0000175	Cleft palate
OMIM:235730	ZEB2	9839	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:235730	ZEB2	9839	HP:0002007	Frontal bossing
OMIM:235730	ZEB2	9839	HP:0003270	Abdominal distention
OMIM:235730	ZEB2	9839	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:610031	TUBB2B	347733	HP:0002307	Drooling
OMIM:610031	TUBB2B	347733	HP:0000006	Autosomal dominant inheritance
OMIM:610031	TUBB2B	347733	HP:0001321	Cerebellar hypoplasia
OMIM:610031	TUBB2B	347733	HP:0001263	Global developmental delay
OMIM:610031	TUBB2B	347733	HP:0001249	Intellectual disability
OMIM:610031	TUBB2B	347733	HP:0001328	Specific learning disability
OMIM:610031	TUBB2B	347733	HP:0001270	Motor delay
OMIM:610031	TUBB2B	347733	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610031	TUBB2B	347733	HP:0001250	Seizures
OMIM:610031	TUBB2B	347733	HP:0000007	Autosomal recessive inheritance
OMIM:610031	TUBB2B	347733	HP:0001274	Agenesis of corpus callosum
OMIM:610031	TUBB2B	347733	HP:0000252	Microcephaly
OMIM:610031	TUBB2B	347733	HP:0001302	Pachygyria
OMIM:610031	TUBB2B	347733	HP:0007941	Limited extraocular movements
ORPHANET:83473	AKT3	10000	HP:0000348	High forehead
ORPHANET:83473	AKT3	10000	HP:0002269	Abnormality of neuronal migration
ORPHANET:83473	AKT3	10000	HP:0100542	Abnormal localization of kidney
ORPHANET:83473	AKT3	10000	HP:0001162	Postaxial hand polydactyly
ORPHANET:83473	AKT3	10000	HP:0005280	Depressed nasal bridge
ORPHANET:83473	AKT3	10000	HP:0000238	Hydrocephalus
ORPHANET:83473	AKT3	10000	HP:0000316	Hypertelorism
ORPHANET:83473	AKT3	10000	HP:0001633	Abnormality of the mitral valve
ORPHANET:83473	AKT3	10000	HP:0005105	Abnormal nasal morphology
ORPHANET:83473	AKT3	10000	HP:0000506	Telecanthus
ORPHANET:83473	AKT3	10000	HP:0001250	Seizures
ORPHANET:83473	AKT3	10000	HP:0000160	Narrow mouth
ORPHANET:83473	AKT3	10000	HP:0000256	Macrocephaly
ORPHANET:83473	AKT3	10000	HP:0001629	Ventricular septal defect
ORPHANET:83473	PIK3R2	5296	HP:0000348	High forehead
ORPHANET:83473	PIK3R2	5296	HP:0002269	Abnormality of neuronal migration
ORPHANET:83473	PIK3R2	5296	HP:0100542	Abnormal localization of kidney
ORPHANET:83473	PIK3R2	5296	HP:0001162	Postaxial hand polydactyly
ORPHANET:83473	PIK3R2	5296	HP:0005280	Depressed nasal bridge
ORPHANET:83473	PIK3R2	5296	HP:0000238	Hydrocephalus
ORPHANET:83473	PIK3R2	5296	HP:0000316	Hypertelorism
ORPHANET:83473	PIK3R2	5296	HP:0001633	Abnormality of the mitral valve
ORPHANET:83473	PIK3R2	5296	HP:0005105	Abnormal nasal morphology
ORPHANET:83473	PIK3R2	5296	HP:0000506	Telecanthus
ORPHANET:83473	PIK3R2	5296	HP:0001250	Seizures
ORPHANET:83473	PIK3R2	5296	HP:0000160	Narrow mouth
ORPHANET:83473	PIK3R2	5296	HP:0000256	Macrocephaly
ORPHANET:83473	PIK3R2	5296	HP:0001629	Ventricular septal defect
ORPHANET:83473	CCND2	894	HP:0000348	High forehead
ORPHANET:83473	CCND2	894	HP:0002269	Abnormality of neuronal migration
ORPHANET:83473	CCND2	894	HP:0100542	Abnormal localization of kidney
ORPHANET:83473	CCND2	894	HP:0001162	Postaxial hand polydactyly
ORPHANET:83473	CCND2	894	HP:0005280	Depressed nasal bridge
ORPHANET:83473	CCND2	894	HP:0000238	Hydrocephalus
ORPHANET:83473	CCND2	894	HP:0000316	Hypertelorism
ORPHANET:83473	CCND2	894	HP:0001633	Abnormality of the mitral valve
ORPHANET:83473	CCND2	894	HP:0005105	Abnormal nasal morphology
ORPHANET:83473	CCND2	894	HP:0000506	Telecanthus
ORPHANET:83473	CCND2	894	HP:0001250	Seizures
ORPHANET:83473	CCND2	894	HP:0000160	Narrow mouth
ORPHANET:83473	CCND2	894	HP:0000256	Macrocephaly
ORPHANET:83473	CCND2	894	HP:0001629	Ventricular septal defect
OMIM:205400	ABCA1	19	HP:0003477	Peripheral axonal neuropathy
OMIM:205400	ABCA1	19	HP:0001658	Myocardial infarction
OMIM:205400	ABCA1	19	HP:0000007	Autosomal recessive inheritance
OMIM:205400	ABCA1	19	HP:0000958	Dry skin
OMIM:205400	ABCA1	19	HP:0001744	Splenomegaly
OMIM:205400	ABCA1	19	HP:0002240	Hepatomegaly
OMIM:205400	ABCA1	19	HP:0001265	Hyporeflexia
OMIM:205400	ABCA1	19	HP:0003233	Hypoalphalipoproteinemia
OMIM:205400	ABCA1	19	HP:0003693	Distal amyotrophy
OMIM:205400	ABCA1	19	HP:0008404	Nail dystrophy
OMIM:205400	ABCA1	19	HP:0000505	Visual impairment
OMIM:205400	ABCA1	19	HP:0001712	Left ventricular hypertrophy
OMIM:205400	ABCA1	19	HP:0011096	Peripheral demyelination
OMIM:205400	ABCA1	19	HP:0007759	Opacification of the corneal stroma
OMIM:205400	ABCA1	19	HP:0002164	Nail dysplasia
OMIM:205400	ABCA1	19	HP:0007328	Impaired pain sensation
OMIM:259750	WNT3A	89780	HP:0000007	Autosomal recessive inheritance
OMIM:259750	WNT3A	89780	HP:0000939	Osteoporosis
OMIM:259750	LRP5	4041	HP:0000007	Autosomal recessive inheritance
OMIM:259750	LRP5	4041	HP:0000939	Osteoporosis
OMIM:259750	DKK1	22943	HP:0000007	Autosomal recessive inheritance
OMIM:259750	DKK1	22943	HP:0000939	Osteoporosis
OMIM:259750	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:259750	WNT1	7471	HP:0000939	Osteoporosis
OMIM:300888	IGSF1	3547	HP:0001419	X-linked recessive inheritance
OMIM:300888	IGSF1	3547	HP:0000821	Hypothyroidism
OMIM:144010	APOB	338	HP:0001084	Corneal arcus
OMIM:144010	APOB	338	HP:0001114	Xanthelasma
OMIM:144010	APOB	338	HP:0003124	Hypercholesterolemia
OMIM:144010	APOB	338	HP:0000006	Autosomal dominant inheritance
OMIM:144010	APOB	338	HP:0001677	Coronary artery disease
OMIM:203500	HGD	3081	HP:0001597	Abnormality of the nail
OMIM:203500	HGD	3081	HP:0001646	Abnormality of the aortic valve
OMIM:203500	HGD	3081	HP:0000592	Blue sclerae
OMIM:203500	HGD	3081	HP:0001376	Limitation of joint mobility
OMIM:203500	HGD	3081	HP:0001369	Arthritis
OMIM:203500	HGD	3081	HP:0004349	Reduced bone mineral density
OMIM:203500	HGD	3081	HP:0000079	Abnormality of the urinary system
OMIM:203500	HGD	3081	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:203500	HGD	3081	HP:0100261	Abnormal tendon morphology
OMIM:203500	HGD	3081	HP:0001677	Coronary artery disease
OMIM:203500	HGD	3081	HP:0000822	Hypertension
OMIM:203500	HGD	3081	HP:0000934	Chondrocalcinosis
OMIM:203500	HGD	3081	HP:0002808	Kyphosis
OMIM:203500	HGD	3081	HP:0000007	Autosomal recessive inheritance
OMIM:203500	HGD	3081	HP:0000366	Abnormality of the nose
OMIM:203500	HGD	3081	HP:0000364	Hearing abnormality
OMIM:203500	HGD	3081	HP:0003355	Aminoaciduria
OMIM:203500	HGD	3081	HP:0002758	Osteoarthritis
OMIM:203500	HGD	3081	HP:0002948	Vertebral fusion
OMIM:203500	HGD	3081	HP:0007400	Irregular hyperpigmentation
OMIM:203500	HGD	3081	HP:0002829	Arthralgia
OMIM:203500	HGD	3081	HP:0000598	Abnormality of the ear
OMIM:203500	HGD	3081	HP:0001507	Growth abnormality
OMIM:203500	HGD	3081	HP:0000787	Nephrolithiasis
OMIM:203500	HGD	3081	HP:0001718	Mitral stenosis
OMIM:203500	HGD	3081	HP:0001724	Aortic dilatation
OMIM:123790	FGFR2	2263	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:123790	FGFR2	2263	HP:0001597	Abnormality of the nail
OMIM:123790	FGFR2	2263	HP:0000995	Melanocytic nevus
OMIM:123790	FGFR2	2263	HP:0001263	Global developmental delay
OMIM:123790	FGFR2	2263	HP:0000520	Proptosis
OMIM:123790	FGFR2	2263	HP:0000956	Acanthosis nigricans
OMIM:123790	FGFR2	2263	HP:0000048	Bifid scrotum
OMIM:123790	FGFR2	2263	HP:0000175	Cleft palate
OMIM:123790	FGFR2	2263	HP:0000238	Hydrocephalus
OMIM:123790	FGFR2	2263	HP:0000368	Low-set, posteriorly rotated ears
OMIM:123790	FGFR2	2263	HP:0002093	Respiratory insufficiency
OMIM:123790	FGFR2	2263	HP:0000648	Optic atrophy
OMIM:123790	FGFR2	2263	HP:0000453	Choanal atresia
OMIM:123790	FGFR2	2263	HP:0000452	Choanal stenosis
OMIM:123790	FGFR2	2263	HP:0001732	Abnormality of the pancreas
OMIM:123790	FGFR2	2263	HP:0002098	Respiratory distress
OMIM:123790	FGFR2	2263	HP:0000006	Autosomal dominant inheritance
OMIM:123790	FGFR2	2263	HP:0000268	Dolichocephaly
OMIM:123790	FGFR2	2263	HP:0000822	Hypertension
OMIM:123790	FGFR2	2263	HP:0000316	Hypertelorism
OMIM:123790	FGFR2	2263	HP:0000272	Malar flattening
OMIM:123790	FGFR2	2263	HP:0000400	Macrotia
OMIM:123790	FGFR2	2263	HP:0000463	Anteverted nares
OMIM:123790	FGFR2	2263	HP:0001274	Agenesis of corpus callosum
OMIM:123790	FGFR2	2263	HP:0011800	Hypoplasia of midface
OMIM:123790	FGFR2	2263	HP:0000494	Downslanted palpebral fissures
OMIM:123790	FGFR2	2263	HP:0000982	Palmoplantar keratoderma
OMIM:123790	FGFR2	2263	HP:0001363	Craniosynostosis
OMIM:123790	FGFR2	2263	HP:0009804	Reduced number of teeth
OMIM:123790	FGFR2	2263	HP:0000160	Narrow mouth
OMIM:123790	FGFR2	2263	HP:0001537	Umbilical hernia
OMIM:123790	FGFR2	2263	HP:0010669	Hypoplasia of the zygomatic bone
OMIM:123790	FGFR2	2263	HP:0001792	Small nail
OMIM:123790	FGFR2	2263	HP:0000364	Hearing abnormality
OMIM:123790	FGFR2	2263	HP:0005280	Depressed nasal bridge
OMIM:123790	FGFR2	2263	HP:0000508	Ptosis
OMIM:123790	FGFR2	2263	HP:0000391	Thickened helices
OMIM:123790	FGFR2	2263	HP:0000189	Narrow palate
OMIM:123790	FGFR2	2263	HP:0000028	Cryptorchidism
OMIM:615707	FCGR3A	2214	HP:0000246	Sinusitis
OMIM:615707	FCGR3A	2214	HP:0000403	Recurrent otitis media
OMIM:615707	FCGR3A	2214	HP:0000007	Autosomal recessive inheritance
OMIM:615707	FCGR3A	2214	HP:0002721	Immunodeficiency
OMIM:615707	FCGR3A	2214	HP:0002205	Recurrent respiratory infections
OMIM:613239	CACNA1S	779	HP:0000836	Hyperthyroidism
OMIM:613239	CACNA1S	779	HP:0001962	Palpitations
OMIM:613239	CACNA1S	779	HP:0001324	Muscle weakness
OMIM:613239	CACNA1S	779	HP:0000853	Goiter
OMIM:613239	CACNA1S	779	HP:0001425	Heterogeneous
OMIM:613239	KCNJ18	100134444	HP:0000836	Hyperthyroidism
OMIM:613239	KCNJ18	100134444	HP:0001962	Palpitations
OMIM:613239	KCNJ18	100134444	HP:0001324	Muscle weakness
OMIM:613239	KCNJ18	100134444	HP:0000853	Goiter
OMIM:613239	KCNJ18	100134444	HP:0001425	Heterogeneous
OMIM:613239	GABRA3	2556	HP:0000836	Hyperthyroidism
OMIM:613239	GABRA3	2556	HP:0001962	Palpitations
OMIM:613239	GABRA3	2556	HP:0001324	Muscle weakness
OMIM:613239	GABRA3	2556	HP:0000853	Goiter
OMIM:613239	GABRA3	2556	HP:0001425	Heterogeneous
OMIM:613390	FANCC	2176	HP:0000007	Autosomal recessive inheritance
OMIM:613390	FANCC	2176	HP:0002984	Hypoplasia of the radius
OMIM:613390	FANCC	2176	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	FANCC	2176	HP:0003241	External genital hypoplasia
OMIM:613390	FANCC	2176	HP:0000126	Hydronephrosis
OMIM:613390	FANCC	2176	HP:0009777	Absent thumb
OMIM:613390	FANCC	2176	HP:0000028	Cryptorchidism
OMIM:613390	FANCC	2176	HP:0002023	Anal atresia
OMIM:613390	FANCC	2176	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	FANCC	2176	HP:0009778	Short thumb
OMIM:613390	FANCC	2176	HP:0000107	Renal cyst
OMIM:613390	FANCC	2176	HP:0004322	Short stature
OMIM:613390	RAD51C	5889	HP:0000007	Autosomal recessive inheritance
OMIM:613390	RAD51C	5889	HP:0002984	Hypoplasia of the radius
OMIM:613390	RAD51C	5889	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	RAD51C	5889	HP:0003241	External genital hypoplasia
OMIM:613390	RAD51C	5889	HP:0000126	Hydronephrosis
OMIM:613390	RAD51C	5889	HP:0009777	Absent thumb
OMIM:613390	RAD51C	5889	HP:0000028	Cryptorchidism
OMIM:613390	RAD51C	5889	HP:0002023	Anal atresia
OMIM:613390	RAD51C	5889	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	RAD51C	5889	HP:0009778	Short thumb
OMIM:613390	RAD51C	5889	HP:0000107	Renal cyst
OMIM:613390	RAD51C	5889	HP:0004322	Short stature
OMIM:613390	FANCD2	2177	HP:0000007	Autosomal recessive inheritance
OMIM:613390	FANCD2	2177	HP:0002984	Hypoplasia of the radius
OMIM:613390	FANCD2	2177	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	FANCD2	2177	HP:0003241	External genital hypoplasia
OMIM:613390	FANCD2	2177	HP:0000126	Hydronephrosis
OMIM:613390	FANCD2	2177	HP:0009777	Absent thumb
OMIM:613390	FANCD2	2177	HP:0000028	Cryptorchidism
OMIM:613390	FANCD2	2177	HP:0002023	Anal atresia
OMIM:613390	FANCD2	2177	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	FANCD2	2177	HP:0009778	Short thumb
OMIM:613390	FANCD2	2177	HP:0000107	Renal cyst
OMIM:613390	FANCD2	2177	HP:0004322	Short stature
OMIM:613390	FANCM	57697	HP:0000007	Autosomal recessive inheritance
OMIM:613390	FANCM	57697	HP:0002984	Hypoplasia of the radius
OMIM:613390	FANCM	57697	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	FANCM	57697	HP:0003241	External genital hypoplasia
OMIM:613390	FANCM	57697	HP:0000126	Hydronephrosis
OMIM:613390	FANCM	57697	HP:0009777	Absent thumb
OMIM:613390	FANCM	57697	HP:0000028	Cryptorchidism
OMIM:613390	FANCM	57697	HP:0002023	Anal atresia
OMIM:613390	FANCM	57697	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	FANCM	57697	HP:0009778	Short thumb
OMIM:613390	FANCM	57697	HP:0000107	Renal cyst
OMIM:613390	FANCM	57697	HP:0004322	Short stature
OMIM:613390	UBE2T	29089	HP:0000007	Autosomal recessive inheritance
OMIM:613390	UBE2T	29089	HP:0002984	Hypoplasia of the radius
OMIM:613390	UBE2T	29089	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	UBE2T	29089	HP:0003241	External genital hypoplasia
OMIM:613390	UBE2T	29089	HP:0000126	Hydronephrosis
OMIM:613390	UBE2T	29089	HP:0009777	Absent thumb
OMIM:613390	UBE2T	29089	HP:0000028	Cryptorchidism
OMIM:613390	UBE2T	29089	HP:0002023	Anal atresia
OMIM:613390	UBE2T	29089	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	UBE2T	29089	HP:0009778	Short thumb
OMIM:613390	UBE2T	29089	HP:0000107	Renal cyst
OMIM:613390	UBE2T	29089	HP:0004322	Short stature
OMIM:613390	FANCE	2178	HP:0000007	Autosomal recessive inheritance
OMIM:613390	FANCE	2178	HP:0002984	Hypoplasia of the radius
OMIM:613390	FANCE	2178	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	FANCE	2178	HP:0003241	External genital hypoplasia
OMIM:613390	FANCE	2178	HP:0000126	Hydronephrosis
OMIM:613390	FANCE	2178	HP:0009777	Absent thumb
OMIM:613390	FANCE	2178	HP:0000028	Cryptorchidism
OMIM:613390	FANCE	2178	HP:0002023	Anal atresia
OMIM:613390	FANCE	2178	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	FANCE	2178	HP:0009778	Short thumb
OMIM:613390	FANCE	2178	HP:0000107	Renal cyst
OMIM:613390	FANCE	2178	HP:0004322	Short stature
OMIM:613390	BRCA2	675	HP:0000007	Autosomal recessive inheritance
OMIM:613390	BRCA2	675	HP:0002984	Hypoplasia of the radius
OMIM:613390	BRCA2	675	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	BRCA2	675	HP:0003241	External genital hypoplasia
OMIM:613390	BRCA2	675	HP:0000126	Hydronephrosis
OMIM:613390	BRCA2	675	HP:0009777	Absent thumb
OMIM:613390	BRCA2	675	HP:0000028	Cryptorchidism
OMIM:613390	BRCA2	675	HP:0002023	Anal atresia
OMIM:613390	BRCA2	675	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	BRCA2	675	HP:0009778	Short thumb
OMIM:613390	BRCA2	675	HP:0000107	Renal cyst
OMIM:613390	BRCA2	675	HP:0004322	Short stature
OMIM:613390	FANCB	2187	HP:0000007	Autosomal recessive inheritance
OMIM:613390	FANCB	2187	HP:0002984	Hypoplasia of the radius
OMIM:613390	FANCB	2187	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	FANCB	2187	HP:0003241	External genital hypoplasia
OMIM:613390	FANCB	2187	HP:0000126	Hydronephrosis
OMIM:613390	FANCB	2187	HP:0009777	Absent thumb
OMIM:613390	FANCB	2187	HP:0000028	Cryptorchidism
OMIM:613390	FANCB	2187	HP:0002023	Anal atresia
OMIM:613390	FANCB	2187	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	FANCB	2187	HP:0009778	Short thumb
OMIM:613390	FANCB	2187	HP:0000107	Renal cyst
OMIM:613390	FANCB	2187	HP:0004322	Short stature
OMIM:613390	FANCF	2188	HP:0000007	Autosomal recessive inheritance
OMIM:613390	FANCF	2188	HP:0002984	Hypoplasia of the radius
OMIM:613390	FANCF	2188	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	FANCF	2188	HP:0003241	External genital hypoplasia
OMIM:613390	FANCF	2188	HP:0000126	Hydronephrosis
OMIM:613390	FANCF	2188	HP:0009777	Absent thumb
OMIM:613390	FANCF	2188	HP:0000028	Cryptorchidism
OMIM:613390	FANCF	2188	HP:0002023	Anal atresia
OMIM:613390	FANCF	2188	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	FANCF	2188	HP:0009778	Short thumb
OMIM:613390	FANCF	2188	HP:0000107	Renal cyst
OMIM:613390	FANCF	2188	HP:0004322	Short stature
OMIM:613390	FANCG	2189	HP:0000007	Autosomal recessive inheritance
OMIM:613390	FANCG	2189	HP:0002984	Hypoplasia of the radius
OMIM:613390	FANCG	2189	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	FANCG	2189	HP:0003241	External genital hypoplasia
OMIM:613390	FANCG	2189	HP:0000126	Hydronephrosis
OMIM:613390	FANCG	2189	HP:0009777	Absent thumb
OMIM:613390	FANCG	2189	HP:0000028	Cryptorchidism
OMIM:613390	FANCG	2189	HP:0002023	Anal atresia
OMIM:613390	FANCG	2189	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	FANCG	2189	HP:0009778	Short thumb
OMIM:613390	FANCG	2189	HP:0000107	Renal cyst
OMIM:613390	FANCG	2189	HP:0004322	Short stature
OMIM:613390	FANCI	55215	HP:0000007	Autosomal recessive inheritance
OMIM:613390	FANCI	55215	HP:0002984	Hypoplasia of the radius
OMIM:613390	FANCI	55215	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	FANCI	55215	HP:0003241	External genital hypoplasia
OMIM:613390	FANCI	55215	HP:0000126	Hydronephrosis
OMIM:613390	FANCI	55215	HP:0009777	Absent thumb
OMIM:613390	FANCI	55215	HP:0000028	Cryptorchidism
OMIM:613390	FANCI	55215	HP:0002023	Anal atresia
OMIM:613390	FANCI	55215	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	FANCI	55215	HP:0009778	Short thumb
OMIM:613390	FANCI	55215	HP:0000107	Renal cyst
OMIM:613390	FANCI	55215	HP:0004322	Short stature
OMIM:613390	FANCL	55120	HP:0000007	Autosomal recessive inheritance
OMIM:613390	FANCL	55120	HP:0002984	Hypoplasia of the radius
OMIM:613390	FANCL	55120	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	FANCL	55120	HP:0003241	External genital hypoplasia
OMIM:613390	FANCL	55120	HP:0000126	Hydronephrosis
OMIM:613390	FANCL	55120	HP:0009777	Absent thumb
OMIM:613390	FANCL	55120	HP:0000028	Cryptorchidism
OMIM:613390	FANCL	55120	HP:0002023	Anal atresia
OMIM:613390	FANCL	55120	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	FANCL	55120	HP:0009778	Short thumb
OMIM:613390	FANCL	55120	HP:0000107	Renal cyst
OMIM:613390	FANCL	55120	HP:0004322	Short stature
OMIM:613390	PALB2	79728	HP:0000007	Autosomal recessive inheritance
OMIM:613390	PALB2	79728	HP:0002984	Hypoplasia of the radius
OMIM:613390	PALB2	79728	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	PALB2	79728	HP:0003241	External genital hypoplasia
OMIM:613390	PALB2	79728	HP:0000126	Hydronephrosis
OMIM:613390	PALB2	79728	HP:0009777	Absent thumb
OMIM:613390	PALB2	79728	HP:0000028	Cryptorchidism
OMIM:613390	PALB2	79728	HP:0002023	Anal atresia
OMIM:613390	PALB2	79728	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	PALB2	79728	HP:0009778	Short thumb
OMIM:613390	PALB2	79728	HP:0000107	Renal cyst
OMIM:613390	PALB2	79728	HP:0004322	Short stature
OMIM:613390	SLX4	84464	HP:0000007	Autosomal recessive inheritance
OMIM:613390	SLX4	84464	HP:0002984	Hypoplasia of the radius
OMIM:613390	SLX4	84464	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	SLX4	84464	HP:0003241	External genital hypoplasia
OMIM:613390	SLX4	84464	HP:0000126	Hydronephrosis
OMIM:613390	SLX4	84464	HP:0009777	Absent thumb
OMIM:613390	SLX4	84464	HP:0000028	Cryptorchidism
OMIM:613390	SLX4	84464	HP:0002023	Anal atresia
OMIM:613390	SLX4	84464	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	SLX4	84464	HP:0009778	Short thumb
OMIM:613390	SLX4	84464	HP:0000107	Renal cyst
OMIM:613390	SLX4	84464	HP:0004322	Short stature
OMIM:613390	BRIP1	83990	HP:0000007	Autosomal recessive inheritance
OMIM:613390	BRIP1	83990	HP:0002984	Hypoplasia of the radius
OMIM:613390	BRIP1	83990	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	BRIP1	83990	HP:0003241	External genital hypoplasia
OMIM:613390	BRIP1	83990	HP:0000126	Hydronephrosis
OMIM:613390	BRIP1	83990	HP:0009777	Absent thumb
OMIM:613390	BRIP1	83990	HP:0000028	Cryptorchidism
OMIM:613390	BRIP1	83990	HP:0002023	Anal atresia
OMIM:613390	BRIP1	83990	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	BRIP1	83990	HP:0009778	Short thumb
OMIM:613390	BRIP1	83990	HP:0000107	Renal cyst
OMIM:613390	BRIP1	83990	HP:0004322	Short stature
OMIM:613390	ERCC4	2072	HP:0000007	Autosomal recessive inheritance
OMIM:613390	ERCC4	2072	HP:0002984	Hypoplasia of the radius
OMIM:613390	ERCC4	2072	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	ERCC4	2072	HP:0003241	External genital hypoplasia
OMIM:613390	ERCC4	2072	HP:0000126	Hydronephrosis
OMIM:613390	ERCC4	2072	HP:0009777	Absent thumb
OMIM:613390	ERCC4	2072	HP:0000028	Cryptorchidism
OMIM:613390	ERCC4	2072	HP:0002023	Anal atresia
OMIM:613390	ERCC4	2072	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	ERCC4	2072	HP:0009778	Short thumb
OMIM:613390	ERCC4	2072	HP:0000107	Renal cyst
OMIM:613390	ERCC4	2072	HP:0004322	Short stature
OMIM:613390	FANCA	2175	HP:0000007	Autosomal recessive inheritance
OMIM:613390	FANCA	2175	HP:0002984	Hypoplasia of the radius
OMIM:613390	FANCA	2175	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613390	FANCA	2175	HP:0003241	External genital hypoplasia
OMIM:613390	FANCA	2175	HP:0000126	Hydronephrosis
OMIM:613390	FANCA	2175	HP:0009777	Absent thumb
OMIM:613390	FANCA	2175	HP:0000028	Cryptorchidism
OMIM:613390	FANCA	2175	HP:0002023	Anal atresia
OMIM:613390	FANCA	2175	HP:0003774	Stage 5 chronic kidney disease
OMIM:613390	FANCA	2175	HP:0009778	Short thumb
OMIM:613390	FANCA	2175	HP:0000107	Renal cyst
OMIM:613390	FANCA	2175	HP:0004322	Short stature
OMIM:602089	FLT4	2324	HP:0000006	Autosomal dominant inheritance
OMIM:602089	ANTXR1	84168	HP:0000006	Autosomal dominant inheritance
OMIM:602089	KDR	3791	HP:0000006	Autosomal dominant inheritance
OMIM:610738	HAX1	10456	HP:0001250	Seizures
OMIM:610738	HAX1	10456	HP:0002863	Myelodysplasia
OMIM:610738	HAX1	10456	HP:0001909	Leukemia
OMIM:610738	HAX1	10456	HP:0001263	Global developmental delay
OMIM:610738	HAX1	10456	HP:0003593	Infantile onset
OMIM:610738	HAX1	10456	HP:0000007	Autosomal recessive inheritance
OMIM:610738	HAX1	10456	HP:0002718	Recurrent bacterial infections
OMIM:610738	HAX1	10456	HP:0001875	Neutropenia
OMIM:614219	NOTCH1	4851	HP:0001252	Muscular hypotonia
OMIM:614219	NOTCH1	4851	HP:0000411	Protruding ear
OMIM:614219	NOTCH1	4851	HP:0000414	Bulbous nose
OMIM:614219	NOTCH1	4851	HP:0000486	Strabismus
OMIM:614219	NOTCH1	4851	HP:0001792	Small nail
OMIM:614219	NOTCH1	4851	HP:0001263	Global developmental delay
OMIM:614219	NOTCH1	4851	HP:0000369	Low-set ears
OMIM:614219	NOTCH1	4851	HP:0000965	Cutis marmorata
OMIM:614219	NOTCH1	4851	HP:0001562	Oligohydramnios
OMIM:614219	NOTCH1	4851	HP:0000648	Optic atrophy
OMIM:614219	NOTCH1	4851	HP:0000252	Microcephaly
OMIM:614219	NOTCH1	4851	HP:0002059	Cerebral atrophy
OMIM:614219	NOTCH1	4851	HP:0000316	Hypertelorism
OMIM:614219	NOTCH1	4851	HP:0002126	Polymicrogyria
OMIM:614219	NOTCH1	4851	HP:0045025	Small palpebral fissure
OMIM:614219	NOTCH1	4851	HP:0000294	Low anterior hairline
OMIM:614219	NOTCH1	4851	HP:0005280	Depressed nasal bridge
OMIM:614219	NOTCH1	4851	HP:0000519	Congenital cataract
OMIM:614219	NOTCH1	4851	HP:0000954	Single transverse palmar crease
OMIM:614219	NOTCH1	4851	HP:0000256	Macrocephaly
OMIM:614219	NOTCH1	4851	HP:0000347	Micrognathia
OMIM:614219	NOTCH1	4851	HP:0001250	Seizures
OMIM:614219	NOTCH1	4851	HP:0000007	Autosomal recessive inheritance
OMIM:614219	NOTCH1	4851	HP:0000568	Microphthalmia
OMIM:614219	DOCK6	57572	HP:0001252	Muscular hypotonia
OMIM:614219	DOCK6	57572	HP:0000411	Protruding ear
OMIM:614219	DOCK6	57572	HP:0000414	Bulbous nose
OMIM:614219	DOCK6	57572	HP:0000486	Strabismus
OMIM:614219	DOCK6	57572	HP:0001792	Small nail
OMIM:614219	DOCK6	57572	HP:0001263	Global developmental delay
OMIM:614219	DOCK6	57572	HP:0000369	Low-set ears
OMIM:614219	DOCK6	57572	HP:0000965	Cutis marmorata
OMIM:614219	DOCK6	57572	HP:0001562	Oligohydramnios
OMIM:614219	DOCK6	57572	HP:0000648	Optic atrophy
OMIM:614219	DOCK6	57572	HP:0000252	Microcephaly
OMIM:614219	DOCK6	57572	HP:0002059	Cerebral atrophy
OMIM:614219	DOCK6	57572	HP:0000316	Hypertelorism
OMIM:614219	DOCK6	57572	HP:0002126	Polymicrogyria
OMIM:614219	DOCK6	57572	HP:0045025	Small palpebral fissure
OMIM:614219	DOCK6	57572	HP:0000294	Low anterior hairline
OMIM:614219	DOCK6	57572	HP:0005280	Depressed nasal bridge
OMIM:614219	DOCK6	57572	HP:0000519	Congenital cataract
OMIM:614219	DOCK6	57572	HP:0000954	Single transverse palmar crease
OMIM:614219	DOCK6	57572	HP:0000256	Macrocephaly
OMIM:614219	DOCK6	57572	HP:0000347	Micrognathia
OMIM:614219	DOCK6	57572	HP:0001250	Seizures
OMIM:614219	DOCK6	57572	HP:0000007	Autosomal recessive inheritance
OMIM:614219	DOCK6	57572	HP:0000568	Microphthalmia
OMIM:614219	EOGT	285203	HP:0001252	Muscular hypotonia
OMIM:614219	EOGT	285203	HP:0000411	Protruding ear
OMIM:614219	EOGT	285203	HP:0000414	Bulbous nose
OMIM:614219	EOGT	285203	HP:0000486	Strabismus
OMIM:614219	EOGT	285203	HP:0001792	Small nail
OMIM:614219	EOGT	285203	HP:0001263	Global developmental delay
OMIM:614219	EOGT	285203	HP:0000369	Low-set ears
OMIM:614219	EOGT	285203	HP:0000965	Cutis marmorata
OMIM:614219	EOGT	285203	HP:0001562	Oligohydramnios
OMIM:614219	EOGT	285203	HP:0000648	Optic atrophy
OMIM:614219	EOGT	285203	HP:0000252	Microcephaly
OMIM:614219	EOGT	285203	HP:0002059	Cerebral atrophy
OMIM:614219	EOGT	285203	HP:0000316	Hypertelorism
OMIM:614219	EOGT	285203	HP:0002126	Polymicrogyria
OMIM:614219	EOGT	285203	HP:0045025	Small palpebral fissure
OMIM:614219	EOGT	285203	HP:0000294	Low anterior hairline
OMIM:614219	EOGT	285203	HP:0005280	Depressed nasal bridge
OMIM:614219	EOGT	285203	HP:0000519	Congenital cataract
OMIM:614219	EOGT	285203	HP:0000954	Single transverse palmar crease
OMIM:614219	EOGT	285203	HP:0000256	Macrocephaly
OMIM:614219	EOGT	285203	HP:0000347	Micrognathia
OMIM:614219	EOGT	285203	HP:0001250	Seizures
OMIM:614219	EOGT	285203	HP:0000007	Autosomal recessive inheritance
OMIM:614219	EOGT	285203	HP:0000568	Microphthalmia
OMIM:614219	DLL4	54567	HP:0001252	Muscular hypotonia
OMIM:614219	DLL4	54567	HP:0000411	Protruding ear
OMIM:614219	DLL4	54567	HP:0000414	Bulbous nose
OMIM:614219	DLL4	54567	HP:0000486	Strabismus
OMIM:614219	DLL4	54567	HP:0001792	Small nail
OMIM:614219	DLL4	54567	HP:0001263	Global developmental delay
OMIM:614219	DLL4	54567	HP:0000369	Low-set ears
OMIM:614219	DLL4	54567	HP:0000965	Cutis marmorata
OMIM:614219	DLL4	54567	HP:0001562	Oligohydramnios
OMIM:614219	DLL4	54567	HP:0000648	Optic atrophy
OMIM:614219	DLL4	54567	HP:0000252	Microcephaly
OMIM:614219	DLL4	54567	HP:0002059	Cerebral atrophy
OMIM:614219	DLL4	54567	HP:0000316	Hypertelorism
OMIM:614219	DLL4	54567	HP:0002126	Polymicrogyria
OMIM:614219	DLL4	54567	HP:0045025	Small palpebral fissure
OMIM:614219	DLL4	54567	HP:0000294	Low anterior hairline
OMIM:614219	DLL4	54567	HP:0005280	Depressed nasal bridge
OMIM:614219	DLL4	54567	HP:0000519	Congenital cataract
OMIM:614219	DLL4	54567	HP:0000954	Single transverse palmar crease
OMIM:614219	DLL4	54567	HP:0000256	Macrocephaly
OMIM:614219	DLL4	54567	HP:0000347	Micrognathia
OMIM:614219	DLL4	54567	HP:0001250	Seizures
OMIM:614219	DLL4	54567	HP:0000007	Autosomal recessive inheritance
OMIM:614219	DLL4	54567	HP:0000568	Microphthalmia
OMIM:614219	ARHGAP31	57514	HP:0001252	Muscular hypotonia
OMIM:614219	ARHGAP31	57514	HP:0000411	Protruding ear
OMIM:614219	ARHGAP31	57514	HP:0000414	Bulbous nose
OMIM:614219	ARHGAP31	57514	HP:0000486	Strabismus
OMIM:614219	ARHGAP31	57514	HP:0001792	Small nail
OMIM:614219	ARHGAP31	57514	HP:0001263	Global developmental delay
OMIM:614219	ARHGAP31	57514	HP:0000369	Low-set ears
OMIM:614219	ARHGAP31	57514	HP:0000965	Cutis marmorata
OMIM:614219	ARHGAP31	57514	HP:0001562	Oligohydramnios
OMIM:614219	ARHGAP31	57514	HP:0000648	Optic atrophy
OMIM:614219	ARHGAP31	57514	HP:0000252	Microcephaly
OMIM:614219	ARHGAP31	57514	HP:0002059	Cerebral atrophy
OMIM:614219	ARHGAP31	57514	HP:0000316	Hypertelorism
OMIM:614219	ARHGAP31	57514	HP:0002126	Polymicrogyria
OMIM:614219	ARHGAP31	57514	HP:0045025	Small palpebral fissure
OMIM:614219	ARHGAP31	57514	HP:0000294	Low anterior hairline
OMIM:614219	ARHGAP31	57514	HP:0005280	Depressed nasal bridge
OMIM:614219	ARHGAP31	57514	HP:0000519	Congenital cataract
OMIM:614219	ARHGAP31	57514	HP:0000954	Single transverse palmar crease
OMIM:614219	ARHGAP31	57514	HP:0000256	Macrocephaly
OMIM:614219	ARHGAP31	57514	HP:0000347	Micrognathia
OMIM:614219	ARHGAP31	57514	HP:0001250	Seizures
OMIM:614219	ARHGAP31	57514	HP:0000007	Autosomal recessive inheritance
OMIM:614219	ARHGAP31	57514	HP:0000568	Microphthalmia
OMIM:614219	RBPJ	3516	HP:0001252	Muscular hypotonia
OMIM:614219	RBPJ	3516	HP:0000411	Protruding ear
OMIM:614219	RBPJ	3516	HP:0000414	Bulbous nose
OMIM:614219	RBPJ	3516	HP:0000486	Strabismus
OMIM:614219	RBPJ	3516	HP:0001792	Small nail
OMIM:614219	RBPJ	3516	HP:0001263	Global developmental delay
OMIM:614219	RBPJ	3516	HP:0000369	Low-set ears
OMIM:614219	RBPJ	3516	HP:0000965	Cutis marmorata
OMIM:614219	RBPJ	3516	HP:0001562	Oligohydramnios
OMIM:614219	RBPJ	3516	HP:0000648	Optic atrophy
OMIM:614219	RBPJ	3516	HP:0000252	Microcephaly
OMIM:614219	RBPJ	3516	HP:0002059	Cerebral atrophy
OMIM:614219	RBPJ	3516	HP:0000316	Hypertelorism
OMIM:614219	RBPJ	3516	HP:0002126	Polymicrogyria
OMIM:614219	RBPJ	3516	HP:0045025	Small palpebral fissure
OMIM:614219	RBPJ	3516	HP:0000294	Low anterior hairline
OMIM:614219	RBPJ	3516	HP:0005280	Depressed nasal bridge
OMIM:614219	RBPJ	3516	HP:0000519	Congenital cataract
OMIM:614219	RBPJ	3516	HP:0000954	Single transverse palmar crease
OMIM:614219	RBPJ	3516	HP:0000256	Macrocephaly
OMIM:614219	RBPJ	3516	HP:0000347	Micrognathia
OMIM:614219	RBPJ	3516	HP:0001250	Seizures
OMIM:614219	RBPJ	3516	HP:0000007	Autosomal recessive inheritance
OMIM:614219	RBPJ	3516	HP:0000568	Microphthalmia
OMIM:609049	LAMB2	3913	HP:0001284	Areflexia
OMIM:609049	LAMB2	3913	HP:0003774	Stage 5 chronic kidney disease
OMIM:609049	LAMB2	3913	HP:0000093	Proteinuria
OMIM:609049	LAMB2	3913	HP:0000639	Nystagmus
OMIM:609049	LAMB2	3913	HP:0000100	Nephrotic syndrome
OMIM:609049	LAMB2	3913	HP:0003623	Neonatal onset
OMIM:609049	LAMB2	3913	HP:0000969	Edema
OMIM:609049	LAMB2	3913	HP:0100022	Abnormality of movement
OMIM:609049	LAMB2	3913	HP:0003075	Hypoproteinemia
OMIM:609049	LAMB2	3913	HP:0001252	Muscular hypotonia
OMIM:609049	LAMB2	3913	HP:0000007	Autosomal recessive inheritance
OMIM:609049	LAMB2	3913	HP:0004374	Hemiplegia/hemiparesis
OMIM:609049	LAMB2	3913	HP:0000822	Hypertension
OMIM:609049	LAMB2	3913	HP:0008736	Hypoplasia of penis
OMIM:609049	LAMB2	3913	HP:0002353	EEG abnormality
OMIM:609049	LAMB2	3913	HP:0000618	Blindness
OMIM:609049	LAMB2	3913	HP:0000518	Cataract
OMIM:609049	LAMB2	3913	HP:0000790	Hematuria
OMIM:311300	FLNA	2316	HP:0001256	Intellectual disability, mild
OMIM:311300	FLNA	2316	HP:0002827	Hip dislocation
OMIM:311300	FLNA	2316	HP:0008368	Tarsal synostosis
OMIM:311300	FLNA	2316	HP:0000175	Cleft palate
OMIM:311300	FLNA	2316	HP:0003196	Short nose
OMIM:311300	FLNA	2316	HP:0001770	Toe syndactyly
OMIM:311300	FLNA	2316	HP:0000272	Malar flattening
OMIM:311300	FLNA	2316	HP:0000767	Pectus excavatum
OMIM:311300	FLNA	2316	HP:0001852	Sandal gap
OMIM:311300	FLNA	2316	HP:0005048	Synostosis of carpal bones
OMIM:311300	FLNA	2316	HP:0001592	Selective tooth agenesis
OMIM:311300	FLNA	2316	HP:0000336	Prominent supraorbital ridges
OMIM:311300	FLNA	2316	HP:0012368	Flat face
OMIM:311300	FLNA	2316	HP:0002164	Nail dysplasia
OMIM:311300	FLNA	2316	HP:0011001	Increased bone mineral density
OMIM:311300	FLNA	2316	HP:0008404	Nail dystrophy
OMIM:311300	FLNA	2316	HP:0009804	Reduced number of teeth
OMIM:311300	FLNA	2316	HP:0001376	Limitation of joint mobility
OMIM:311300	FLNA	2316	HP:0000405	Conductive hearing impairment
OMIM:311300	FLNA	2316	HP:0000366	Abnormality of the nose
OMIM:311300	FLNA	2316	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:311300	FLNA	2316	HP:0010055	Broad hallux
OMIM:311300	FLNA	2316	HP:0003042	Elbow dislocation
OMIM:311300	FLNA	2316	HP:0002650	Scoliosis
OMIM:311300	FLNA	2316	HP:0001539	Omphalocele
OMIM:311300	FLNA	2316	HP:0004322	Short stature
OMIM:311300	FLNA	2316	HP:0000160	Narrow mouth
OMIM:311300	FLNA	2316	HP:0000316	Hypertelorism
OMIM:311300	FLNA	2316	HP:0003083	Dislocated radial head
OMIM:311300	FLNA	2316	HP:0001156	Brachydactyly syndrome
OMIM:311300	FLNA	2316	HP:0001423	X-linked dominant inheritance
OMIM:311300	FLNA	2316	HP:0000365	Hearing impairment
OMIM:311300	FLNA	2316	HP:0000269	Prominent occiput
OMIM:311300	FLNA	2316	HP:0000494	Downslanted palpebral fissures
OMIM:311300	FLNA	2316	HP:0002673	Coxa valga
OMIM:311300	FLNA	2316	HP:0009623	Proximal placement of thumb
OMIM:311300	FLNA	2316	HP:0009882	Short distal phalanx of finger
OMIM:311300	FLNA	2316	HP:0010109	Short hallux
OMIM:311300	FLNA	2316	HP:0006487	Bowing of the long bones
OMIM:311300	FLNA	2316	HP:0002007	Frontal bossing
OMIM:311300	FLNA	2316	HP:0000431	Wide nasal bridge
OMIM:311300	FLNA	2316	HP:0004493	Craniofacial hyperostosis
OMIM:608810	CRYAB	1410	HP:0003325	Limb-girdle muscle weakness
OMIM:608810	CRYAB	1410	HP:0003560	Muscular dystrophy
OMIM:608810	CRYAB	1410	HP:0003581	Adult onset
OMIM:608810	CRYAB	1410	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608810	CRYAB	1410	HP:0003677	Slow progression
OMIM:608810	CRYAB	1410	HP:0000518	Cataract
OMIM:608810	CRYAB	1410	HP:0002460	Distal muscle weakness
OMIM:608810	CRYAB	1410	HP:0003236	Elevated serum creatine phosphokinase
OMIM:608810	CRYAB	1410	HP:0000467	Neck muscle weakness
OMIM:608810	CRYAB	1410	HP:0003458	EMG: myopathic abnormalities
OMIM:608810	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:608810	CRYAB	1410	HP:0003736	Autophagic vacuoles
OMIM:608810	CRYAB	1410	HP:0001639	Hypertrophic cardiomyopathy
OMIM:608810	CRYAB	1410	HP:0009027	Foot dorsiflexor weakness
OMIM:609322	SMARCA4	6597	HP:0002514	Cerebral calcification
OMIM:609322	SMARCA4	6597	HP:0006824	Cranial nerve paralysis
OMIM:609322	SMARCA4	6597	HP:0002360	Sleep disturbance
OMIM:609322	SMARCA4	6597	HP:0002311	Incoordination
OMIM:609322	SMARCA4	6597	HP:0004374	Hemiplegia/hemiparesis
OMIM:609322	SMARCA4	6597	HP:0000256	Macrocephaly
OMIM:609322	SMARCA4	6597	HP:0001324	Muscle weakness
OMIM:609322	SMARCA4	6597	HP:0002076	Migraine
OMIM:609322	SMARCA4	6597	HP:0000006	Autosomal dominant inheritance
OMIM:609322	SMARCA4	6597	HP:0001250	Seizures
OMIM:609322	SMARCA4	6597	HP:0001376	Limitation of joint mobility
OMIM:609322	SMARCA4	6597	HP:0002017	Nausea and vomiting
OMIM:609322	SMARCA4	6597	HP:0000238	Hydrocephalus
OMIM:609322	SMARCA4	6597	HP:0004375	Neoplasm of the nervous system
OMIM:609322	SMARCA4	6597	HP:0002885	Medulloblastoma
OMIM:609322	SMARCB1	6598	HP:0002514	Cerebral calcification
OMIM:609322	SMARCB1	6598	HP:0006824	Cranial nerve paralysis
OMIM:609322	SMARCB1	6598	HP:0002360	Sleep disturbance
OMIM:609322	SMARCB1	6598	HP:0002311	Incoordination
OMIM:609322	SMARCB1	6598	HP:0004374	Hemiplegia/hemiparesis
OMIM:609322	SMARCB1	6598	HP:0000256	Macrocephaly
OMIM:609322	SMARCB1	6598	HP:0001324	Muscle weakness
OMIM:609322	SMARCB1	6598	HP:0002076	Migraine
OMIM:609322	SMARCB1	6598	HP:0000006	Autosomal dominant inheritance
OMIM:609322	SMARCB1	6598	HP:0001250	Seizures
OMIM:609322	SMARCB1	6598	HP:0001376	Limitation of joint mobility
OMIM:609322	SMARCB1	6598	HP:0002017	Nausea and vomiting
OMIM:609322	SMARCB1	6598	HP:0000238	Hydrocephalus
OMIM:609322	SMARCB1	6598	HP:0004375	Neoplasm of the nervous system
OMIM:609322	SMARCB1	6598	HP:0002885	Medulloblastoma
ORPHANET:2680	ADCY6	112	HP:0001376	Limitation of joint mobility
ORPHANET:2680	ADCY6	112	HP:0003457	EMG abnormality
ORPHANET:2680	ADCY6	112	HP:0001315	Reduced tendon reflexes
ORPHANET:2680	ADCY6	112	HP:0001252	Muscular hypotonia
ORPHANET:2680	ADCY6	112	HP:0002093	Respiratory insufficiency
ORPHANET:2680	CNTNAP1	8506	HP:0001376	Limitation of joint mobility
ORPHANET:2680	CNTNAP1	8506	HP:0003457	EMG abnormality
ORPHANET:2680	CNTNAP1	8506	HP:0001315	Reduced tendon reflexes
ORPHANET:2680	CNTNAP1	8506	HP:0001252	Muscular hypotonia
ORPHANET:2680	CNTNAP1	8506	HP:0002093	Respiratory insufficiency
OMIM:274500	SLC5A5	6528	HP:0000821	Hypothyroidism
OMIM:274500	SLC5A5	6528	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274500	SLC5A5	6528	HP:0000853	Goiter
OMIM:274500	SLC5A5	6528	HP:0000007	Autosomal recessive inheritance
OMIM:274500	TPO	7173	HP:0000821	Hypothyroidism
OMIM:274500	TPO	7173	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274500	TPO	7173	HP:0000853	Goiter
OMIM:274500	TPO	7173	HP:0000007	Autosomal recessive inheritance
OMIM:274500	DUOX2	50506	HP:0000821	Hypothyroidism
OMIM:274500	DUOX2	50506	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274500	DUOX2	50506	HP:0000853	Goiter
OMIM:274500	DUOX2	50506	HP:0000007	Autosomal recessive inheritance
OMIM:274500	TG	7038	HP:0000821	Hypothyroidism
OMIM:274500	TG	7038	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274500	TG	7038	HP:0000853	Goiter
OMIM:274500	TG	7038	HP:0000007	Autosomal recessive inheritance
OMIM:274500	DUOXA2	405753	HP:0000821	Hypothyroidism
OMIM:274500	DUOXA2	405753	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274500	DUOXA2	405753	HP:0000853	Goiter
OMIM:274500	DUOXA2	405753	HP:0000007	Autosomal recessive inheritance
OMIM:274500	IYD	389434	HP:0000821	Hypothyroidism
OMIM:274500	IYD	389434	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:274500	IYD	389434	HP:0000853	Goiter
OMIM:274500	IYD	389434	HP:0000007	Autosomal recessive inheritance
OMIM:612631	AK1	203	HP:0001878	Hemolytic anemia
OMIM:612631	AK1	203	HP:0000007	Autosomal recessive inheritance
OMIM:142310	HBZ	3050	HP:0003826	Stillbirth
OMIM:142310	HBZ	3050	HP:0000006	Autosomal dominant inheritance
OMIM:300209	OFD1	8481	HP:0000219	Thin upper lip vermilion
OMIM:300209	OFD1	8481	HP:0001419	X-linked recessive inheritance
OMIM:300209	OFD1	8481	HP:0000054	Micropenis
OMIM:300209	OFD1	8481	HP:0000268	Dolichocephaly
OMIM:300209	OFD1	8481	HP:0000316	Hypertelorism
OMIM:300209	OFD1	8481	HP:0000445	Wide nose
OMIM:300209	OFD1	8481	HP:0000954	Single transverse palmar crease
OMIM:300209	OFD1	8481	HP:0000463	Anteverted nares
OMIM:300209	OFD1	8481	HP:0000003	Multicystic kidney dysplasia
OMIM:300209	OFD1	8481	HP:0006610	Wide intermamillary distance
OMIM:300209	OFD1	8481	HP:0000154	Wide mouth
OMIM:300209	OFD1	8481	HP:0002090	Pneumonia
OMIM:300209	OFD1	8481	HP:0002788	Recurrent upper respiratory tract infections
OMIM:300209	OFD1	8481	HP:0000023	Inguinal hernia
OMIM:300209	OFD1	8481	HP:0000175	Cleft palate
OMIM:300209	OFD1	8481	HP:0006801	Hyperactive deep tendon reflexes
OMIM:300209	OFD1	8481	HP:0010864	Intellectual disability, severe
OMIM:300209	OFD1	8481	HP:0000358	Posteriorly rotated ears
OMIM:300209	OFD1	8481	HP:0000280	Coarse facial features
OMIM:300209	OFD1	8481	HP:0009466	Radial deviation of finger
OMIM:300209	OFD1	8481	HP:0001547	Abnormality of the rib cage
OMIM:300209	OFD1	8481	HP:0000474	Thickened nuchal skin fold
OMIM:300209	OFD1	8481	HP:0001762	Talipes equinovarus
OMIM:300209	OFD1	8481	HP:0001792	Small nail
OMIM:300209	OFD1	8481	HP:0000369	Low-set ears
OMIM:300209	OFD1	8481	HP:0001182	Tapered finger
OMIM:300209	OFD1	8481	HP:0001374	Congenital hip dislocation
OMIM:300209	OFD1	8481	HP:0030084	Clinodactyly
OMIM:300209	OFD1	8481	HP:0000218	High palate
OMIM:300209	OFD1	8481	HP:0003196	Short nose
OMIM:300209	OFD1	8481	HP:0000286	Epicanthus
OMIM:300209	OFD1	8481	HP:0006887	Intellectual disability, progressive
OMIM:300209	OFD1	8481	HP:0000470	Short neck
OMIM:300209	OFD1	8481	HP:0010806	U-Shaped upper lip vermilion
OMIM:300209	OFD1	8481	HP:0000256	Macrocephaly
OMIM:300209	OFD1	8481	HP:0001252	Muscular hypotonia
OMIM:300209	OFD1	8481	HP:0009381	Short finger
OMIM:612900	KANK1	23189	HP:0001252	Muscular hypotonia
OMIM:612900	KANK1	23189	HP:0002119	Ventriculomegaly
OMIM:612900	KANK1	23189	HP:0002510	Spastic tetraplegia
OMIM:612900	KANK1	23189	HP:0001249	Intellectual disability
OMIM:612900	KANK1	23189	HP:0002059	Cerebral atrophy
OMIM:612900	ADD3	120	HP:0001252	Muscular hypotonia
OMIM:612900	ADD3	120	HP:0002119	Ventriculomegaly
OMIM:612900	ADD3	120	HP:0002510	Spastic tetraplegia
OMIM:612900	ADD3	120	HP:0001249	Intellectual disability
OMIM:612900	ADD3	120	HP:0002059	Cerebral atrophy
OMIM:612900	GAD1	2571	HP:0001252	Muscular hypotonia
OMIM:612900	GAD1	2571	HP:0002119	Ventriculomegaly
OMIM:612900	GAD1	2571	HP:0002510	Spastic tetraplegia
OMIM:612900	GAD1	2571	HP:0001249	Intellectual disability
OMIM:612900	GAD1	2571	HP:0002059	Cerebral atrophy
OMIM:129900	TP63	8626	HP:0001161	Hand polydactyly
OMIM:129900	TP63	8626	HP:0000054	Micropenis
OMIM:129900	TP63	8626	HP:0000252	Microcephaly
OMIM:129900	TP63	8626	HP:0008551	Microtia
OMIM:129900	TP63	8626	HP:0000104	Renal agenesis
OMIM:129900	TP63	8626	HP:0000015	Bladder diverticulum
OMIM:129900	TP63	8626	HP:0000143	Rectovaginal fistula
OMIM:129900	TP63	8626	HP:0000204	Cleft upper lip
OMIM:129900	TP63	8626	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:129900	TP63	8626	HP:0000498	Blepharitis
OMIM:129900	TP63	8626	HP:0000126	Hydronephrosis
OMIM:129900	TP63	8626	HP:0002023	Anal atresia
OMIM:129900	TP63	8626	HP:0001592	Selective tooth agenesis
OMIM:129900	TP63	8626	HP:0000327	Hypoplasia of the maxilla
OMIM:129900	TP63	8626	HP:0001171	Split hand
OMIM:129900	TP63	8626	HP:0000535	Sparse eyebrow
OMIM:129900	TP63	8626	HP:0000453	Choanal atresia
OMIM:129900	TP63	8626	HP:0000653	Sparse eyelashes
OMIM:129900	TP63	8626	HP:0001249	Intellectual disability
OMIM:129900	TP63	8626	HP:0002215	Sparse axillary hair
OMIM:129900	TP63	8626	HP:0000670	Carious teeth
OMIM:129900	TP63	8626	HP:0002205	Recurrent respiratory infections
OMIM:129900	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:129900	TP63	8626	HP:0000962	Hyperkeratosis
OMIM:129900	TP63	8626	HP:0000316	Hypertelorism
OMIM:129900	TP63	8626	HP:0000028	Cryptorchidism
OMIM:129900	TP63	8626	HP:0000110	Renal dysplasia
OMIM:129900	TP63	8626	HP:0002209	Sparse scalp hair
OMIM:129900	TP63	8626	HP:0000455	Broad nasal tip
OMIM:129900	TP63	8626	HP:0000217	Xerostomia
OMIM:129900	TP63	8626	HP:0000613	Photophobia
OMIM:129900	TP63	8626	HP:0000635	Blue irides
OMIM:129900	TP63	8626	HP:0000272	Malar flattening
OMIM:129900	TP63	8626	HP:0000023	Inguinal hernia
OMIM:129900	TP63	8626	HP:0002557	Hypoplastic nipples
OMIM:129900	TP63	8626	HP:0000581	Blepharophimosis
OMIM:129900	TP63	8626	HP:0000072	Hydroureter
OMIM:129900	TP63	8626	HP:0000691	Microdontia
OMIM:129900	TP63	8626	HP:0000081	Duplicated collecting system
OMIM:129900	TP63	8626	HP:0000506	Telecanthus
OMIM:129900	TP63	8626	HP:0000963	Thin skin
OMIM:129900	TP63	8626	HP:0001425	Heterogeneous
OMIM:129900	TP63	8626	HP:0001739	Abnormality of the nasopharynx
OMIM:129900	TP63	8626	HP:0000405	Conductive hearing impairment
OMIM:129900	TP63	8626	HP:0000968	Ectodermal dysplasia
OMIM:129900	TP63	8626	HP:0001770	Toe syndactyly
OMIM:129900	TP63	8626	HP:0000824	Growth hormone deficiency
OMIM:129900	TP63	8626	HP:0000175	Cleft palate
OMIM:129900	TP63	8626	HP:0007513	Generalized hypopigmentation
OMIM:129900	TP63	8626	HP:0000076	Vesicoureteral reflux
OMIM:612225	CEL	1056	HP:0000006	Autosomal dominant inheritance
OMIM:612225	BLK	640	HP:0000006	Autosomal dominant inheritance
OMIM:612225	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:612225	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:612225	APPL1	26060	HP:0000006	Autosomal dominant inheritance
OMIM:612225	KLF11	8462	HP:0000006	Autosomal dominant inheritance
OMIM:612225	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:612225	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:612225	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:612225	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:612225	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:612225	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:612225	NEUROD1	4760	HP:0000006	Autosomal dominant inheritance
OMIM:613285	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:613285	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:613285	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:613285	BSND	7809	HP:0000365	Hearing impairment
OMIM:613285	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:613285	ESPN	83715	HP:0000365	Hearing impairment
OMIM:613285	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:613285	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:613285	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:613285	OTOA	146183	HP:0000365	Hearing impairment
OMIM:613285	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:613285	GJA1	2697	HP:0000365	Hearing impairment
OMIM:613285	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:613285	MET	4233	HP:0000365	Hearing impairment
OMIM:613285	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:613285	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:613285	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:613285	HGF	3082	HP:0000365	Hearing impairment
OMIM:613285	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:613285	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:613285	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:613285	EPS8	2059	HP:0000365	Hearing impairment
OMIM:613285	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:613285	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:613285	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:613285	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:613285	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:613285	GJB2	2706	HP:0000365	Hearing impairment
OMIM:613285	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:613285	GJB3	2707	HP:0000365	Hearing impairment
OMIM:613285	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:613285	CABP2	51475	HP:0000365	Hearing impairment
OMIM:613285	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:613285	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:613285	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:613285	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:613285	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:613285	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:613285	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613285	CIB2	10518	HP:0000365	Hearing impairment
OMIM:613285	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:613285	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:613285	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:613285	KARS	3735	HP:0000365	Hearing impairment
OMIM:613285	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:613285	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:613285	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:613285	TMC1	117531	HP:0000365	Hearing impairment
OMIM:613285	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:613285	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:613285	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:613285	OTOF	9381	HP:0000365	Hearing impairment
OMIM:613285	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:613285	MYO6	4646	HP:0000365	Hearing impairment
OMIM:613285	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:613285	TMIE	259236	HP:0000365	Hearing impairment
OMIM:613285	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:613285	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:613285	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:613285	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:613285	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:613285	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:613285	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:613285	TPRN	286262	HP:0000365	Hearing impairment
OMIM:613285	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:613285	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:613285	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:613285	GJB6	10804	HP:0000365	Hearing impairment
OMIM:613285	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:613285	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:613285	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:613285	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:613285	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:613285	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:613285	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:613285	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:613285	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613285	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:613285	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:613285	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:613285	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:613285	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:613285	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:613285	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:613285	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:613285	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:613285	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:613285	CDH23	64072	HP:0000365	Hearing impairment
OMIM:613285	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:613285	RDX	5962	HP:0000365	Hearing impairment
OMIM:613285	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:613285	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:613285	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:613285	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:613285	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:613285	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:613285	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:613285	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:613285	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:613285	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:613285	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:613285	STRC	161497	HP:0000365	Hearing impairment
OMIM:613285	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:613285	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:613285	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:613285	TECTA	7007	HP:0000365	Hearing impairment
OMIM:613285	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:613285	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:613285	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:613285	USH1C	10083	HP:0000365	Hearing impairment
OMIM:613285	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:613285	ADCY1	107	HP:0000365	Hearing impairment
OMIM:613285	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:613285	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:613285	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:613285	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:613285	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:613285	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:613285	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:613285	OTOG	340990	HP:0000365	Hearing impairment
ORPHANET:158676	COL7A1	1294	HP:0008388	Abnormality of the toenails
OMIM:615344	KCNK3	3777	HP:0011675	Arrhythmia
OMIM:615344	KCNK3	3777	HP:0000006	Autosomal dominant inheritance
OMIM:613684	EP300	2033	HP:0000527	Long eyelashes
OMIM:613684	EP300	2033	HP:0000689	Dental malocclusion
OMIM:613684	EP300	2033	HP:0000750	Delayed speech and language development
OMIM:613684	EP300	2033	HP:0011304	Broad thumb
OMIM:613684	EP300	2033	HP:0000347	Micrognathia
OMIM:613684	EP300	2033	HP:0001263	Global developmental delay
OMIM:613684	EP300	2033	HP:0000218	High palate
OMIM:613684	EP300	2033	HP:0000448	Prominent nose
OMIM:613684	EP300	2033	HP:0001256	Intellectual disability, mild
OMIM:613684	EP300	2033	HP:0000670	Carious teeth
OMIM:613684	EP300	2033	HP:0010055	Broad hallux
OMIM:613684	EP300	2033	HP:0003577	Congenital onset
OMIM:613684	EP300	2033	HP:0000278	Retrognathia
OMIM:613684	EP300	2033	HP:0000444	Convex nasal ridge
OMIM:613684	EP300	2033	HP:0000006	Autosomal dominant inheritance
OMIM:613684	EP300	2033	HP:0000189	Narrow palate
OMIM:613684	EP300	2033	HP:0000252	Microcephaly
OMIM:181350	LMNA	4000	HP:0003306	Spinal rigidity
OMIM:181350	LMNA	4000	HP:0003236	Elevated serum creatine phosphokinase
OMIM:181350	LMNA	4000	HP:0011727	Peroneal muscle weakness
OMIM:181350	LMNA	4000	HP:0005997	Restricted neck movement due to contractures
OMIM:181350	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:181350	LMNA	4000	HP:0001417	X-linked inheritance
OMIM:181350	LMNA	4000	HP:0003690	Limb muscle weakness
OMIM:181350	LMNA	4000	HP:0009049	Peroneal muscle atrophy
OMIM:181350	LMNA	4000	HP:0003691	Scapular winging
OMIM:181350	LMNA	4000	HP:0001645	Sudden cardiac death
OMIM:181350	LMNA	4000	HP:0011675	Arrhythmia
OMIM:181350	LMNA	4000	HP:0003560	Muscular dystrophy
OMIM:181350	LMNA	4000	HP:0006785	Limb-girdle muscular dystrophy
OMIM:181350	LMNA	4000	HP:0008944	Distal lower limb amyotrophy
OMIM:181350	LMNA	4000	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:181350	LMNA	4000	HP:0001771	Achilles tendon contracture
OMIM:181350	LMNA	4000	HP:0003828	Variable expressivity
OMIM:181350	LMNA	4000	HP:0003677	Slow progression
OMIM:181350	LMNA	4000	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
OMIM:181350	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:181350	LMNA	4000	HP:0002987	Elbow flexion contracture
OMIM:181350	LMNA	4000	HP:0003325	Limb-girdle muscle weakness
OMIM:181350	SYNE1	23345	HP:0003306	Spinal rigidity
OMIM:181350	SYNE1	23345	HP:0003236	Elevated serum creatine phosphokinase
OMIM:181350	SYNE1	23345	HP:0011727	Peroneal muscle weakness
OMIM:181350	SYNE1	23345	HP:0005997	Restricted neck movement due to contractures
OMIM:181350	SYNE1	23345	HP:0000006	Autosomal dominant inheritance
OMIM:181350	SYNE1	23345	HP:0001417	X-linked inheritance
OMIM:181350	SYNE1	23345	HP:0003690	Limb muscle weakness
OMIM:181350	SYNE1	23345	HP:0009049	Peroneal muscle atrophy
OMIM:181350	SYNE1	23345	HP:0003691	Scapular winging
OMIM:181350	SYNE1	23345	HP:0001645	Sudden cardiac death
OMIM:181350	SYNE1	23345	HP:0011675	Arrhythmia
OMIM:181350	SYNE1	23345	HP:0003560	Muscular dystrophy
OMIM:181350	SYNE1	23345	HP:0006785	Limb-girdle muscular dystrophy
OMIM:181350	SYNE1	23345	HP:0008944	Distal lower limb amyotrophy
OMIM:181350	SYNE1	23345	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:181350	SYNE1	23345	HP:0001771	Achilles tendon contracture
OMIM:181350	SYNE1	23345	HP:0003828	Variable expressivity
OMIM:181350	SYNE1	23345	HP:0003677	Slow progression
OMIM:181350	SYNE1	23345	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
OMIM:181350	SYNE1	23345	HP:0001644	Dilated cardiomyopathy
OMIM:181350	SYNE1	23345	HP:0002987	Elbow flexion contracture
OMIM:181350	SYNE1	23345	HP:0003325	Limb-girdle muscle weakness
OMIM:181350	TMEM43	79188	HP:0003306	Spinal rigidity
OMIM:181350	TMEM43	79188	HP:0003236	Elevated serum creatine phosphokinase
OMIM:181350	TMEM43	79188	HP:0011727	Peroneal muscle weakness
OMIM:181350	TMEM43	79188	HP:0005997	Restricted neck movement due to contractures
OMIM:181350	TMEM43	79188	HP:0000006	Autosomal dominant inheritance
OMIM:181350	TMEM43	79188	HP:0001417	X-linked inheritance
OMIM:181350	TMEM43	79188	HP:0003690	Limb muscle weakness
OMIM:181350	TMEM43	79188	HP:0009049	Peroneal muscle atrophy
OMIM:181350	TMEM43	79188	HP:0003691	Scapular winging
OMIM:181350	TMEM43	79188	HP:0001645	Sudden cardiac death
OMIM:181350	TMEM43	79188	HP:0011675	Arrhythmia
OMIM:181350	TMEM43	79188	HP:0003560	Muscular dystrophy
OMIM:181350	TMEM43	79188	HP:0006785	Limb-girdle muscular dystrophy
OMIM:181350	TMEM43	79188	HP:0008944	Distal lower limb amyotrophy
OMIM:181350	TMEM43	79188	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:181350	TMEM43	79188	HP:0001771	Achilles tendon contracture
OMIM:181350	TMEM43	79188	HP:0003828	Variable expressivity
OMIM:181350	TMEM43	79188	HP:0003677	Slow progression
OMIM:181350	TMEM43	79188	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
OMIM:181350	TMEM43	79188	HP:0001644	Dilated cardiomyopathy
OMIM:181350	TMEM43	79188	HP:0002987	Elbow flexion contracture
OMIM:181350	TMEM43	79188	HP:0003325	Limb-girdle muscle weakness
OMIM:181350	SYNE2	23224	HP:0003306	Spinal rigidity
OMIM:181350	SYNE2	23224	HP:0003236	Elevated serum creatine phosphokinase
OMIM:181350	SYNE2	23224	HP:0011727	Peroneal muscle weakness
OMIM:181350	SYNE2	23224	HP:0005997	Restricted neck movement due to contractures
OMIM:181350	SYNE2	23224	HP:0000006	Autosomal dominant inheritance
OMIM:181350	SYNE2	23224	HP:0001417	X-linked inheritance
OMIM:181350	SYNE2	23224	HP:0003690	Limb muscle weakness
OMIM:181350	SYNE2	23224	HP:0009049	Peroneal muscle atrophy
OMIM:181350	SYNE2	23224	HP:0003691	Scapular winging
OMIM:181350	SYNE2	23224	HP:0001645	Sudden cardiac death
OMIM:181350	SYNE2	23224	HP:0011675	Arrhythmia
OMIM:181350	SYNE2	23224	HP:0003560	Muscular dystrophy
OMIM:181350	SYNE2	23224	HP:0006785	Limb-girdle muscular dystrophy
OMIM:181350	SYNE2	23224	HP:0008944	Distal lower limb amyotrophy
OMIM:181350	SYNE2	23224	HP:0008180	Mildly elevated creatine phosphokinase
OMIM:181350	SYNE2	23224	HP:0001771	Achilles tendon contracture
OMIM:181350	SYNE2	23224	HP:0003828	Variable expressivity
OMIM:181350	SYNE2	23224	HP:0003677	Slow progression
OMIM:181350	SYNE2	23224	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
OMIM:181350	SYNE2	23224	HP:0001644	Dilated cardiomyopathy
OMIM:181350	SYNE2	23224	HP:0002987	Elbow flexion contracture
OMIM:181350	SYNE2	23224	HP:0003325	Limb-girdle muscle weakness
OMIM:158600	DYNC1H1	1778	HP:0007269	Spinal muscular atrophy
OMIM:158600	DYNC1H1	1778	HP:0002515	Waddling gait
OMIM:158600	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:158600	DYNC1H1	1778	HP:0001760	Abnormality of the foot
OMIM:158600	DYNC1H1	1778	HP:0003445	EMG: neuropathic changes
OMIM:158600	DYNC1H1	1778	HP:0003677	Slow progression
OMIM:158600	DYNC1H1	1778	HP:0011463	Childhood onset
OMIM:158600	DYNC1H1	1778	HP:0003474	Sensory impairment
OMIM:158600	DYNC1H1	1778	HP:0008994	Proximal muscle weakness in lower limbs
OMIM:186570	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:186570	NOG	9241	HP:0003041	Humeroradial synostosis
OMIM:186570	NOG	9241	HP:0001156	Brachydactyly syndrome
OMIM:186570	NOG	9241	HP:0030084	Clinodactyly
OMIM:186570	NOG	9241	HP:0006152	Proximal symphalangism (hands)
OMIM:186570	NOG	9241	HP:0002967	Cubitus valgus
OMIM:186570	NOG	9241	HP:0010034	Short 1st metacarpal
OMIM:186570	NOG	9241	HP:0008368	Tarsal synostosis
OMIM:186570	NOG	9241	HP:0009381	Short finger
OMIM:186570	NOG	9241	HP:0009466	Radial deviation of finger
OMIM:186570	NOG	9241	HP:0009702	Carpal synostosis
OMIM:600376	GDF2	2658	HP:0001217	Clubbing
OMIM:600376	GDF2	2658	HP:0001394	Cirrhosis
OMIM:600376	GDF2	2658	HP:0000822	Hypertension
OMIM:600376	GDF2	2658	HP:0002076	Migraine
OMIM:600376	GDF2	2658	HP:0002573	Hematochezia
OMIM:600376	GDF2	2658	HP:0001250	Seizures
OMIM:600376	GDF2	2658	HP:0001903	Anemia
OMIM:600376	GDF2	2658	HP:0002094	Dyspnea
OMIM:600376	GDF2	2658	HP:0001901	Polycythemia
OMIM:600376	GDF2	2658	HP:0000961	Cyanosis
OMIM:600376	GDF2	2658	HP:0000006	Autosomal dominant inheritance
OMIM:600376	ENG	2022	HP:0001217	Clubbing
OMIM:600376	ENG	2022	HP:0001394	Cirrhosis
OMIM:600376	ENG	2022	HP:0000822	Hypertension
OMIM:600376	ENG	2022	HP:0002076	Migraine
OMIM:600376	ENG	2022	HP:0002573	Hematochezia
OMIM:600376	ENG	2022	HP:0001250	Seizures
OMIM:600376	ENG	2022	HP:0001903	Anemia
OMIM:600376	ENG	2022	HP:0002094	Dyspnea
OMIM:600376	ENG	2022	HP:0001901	Polycythemia
OMIM:600376	ENG	2022	HP:0000961	Cyanosis
OMIM:600376	ENG	2022	HP:0000006	Autosomal dominant inheritance
OMIM:600376	SMAD4	4089	HP:0001217	Clubbing
OMIM:600376	SMAD4	4089	HP:0001394	Cirrhosis
OMIM:600376	SMAD4	4089	HP:0000822	Hypertension
OMIM:600376	SMAD4	4089	HP:0002076	Migraine
OMIM:600376	SMAD4	4089	HP:0002573	Hematochezia
OMIM:600376	SMAD4	4089	HP:0001250	Seizures
OMIM:600376	SMAD4	4089	HP:0001903	Anemia
OMIM:600376	SMAD4	4089	HP:0002094	Dyspnea
OMIM:600376	SMAD4	4089	HP:0001901	Polycythemia
OMIM:600376	SMAD4	4089	HP:0000961	Cyanosis
OMIM:600376	SMAD4	4089	HP:0000006	Autosomal dominant inheritance
OMIM:600376	ACVRL1	94	HP:0001217	Clubbing
OMIM:600376	ACVRL1	94	HP:0001394	Cirrhosis
OMIM:600376	ACVRL1	94	HP:0000822	Hypertension
OMIM:600376	ACVRL1	94	HP:0002076	Migraine
OMIM:600376	ACVRL1	94	HP:0002573	Hematochezia
OMIM:600376	ACVRL1	94	HP:0001250	Seizures
OMIM:600376	ACVRL1	94	HP:0001903	Anemia
OMIM:600376	ACVRL1	94	HP:0002094	Dyspnea
OMIM:600376	ACVRL1	94	HP:0001901	Polycythemia
OMIM:600376	ACVRL1	94	HP:0000961	Cyanosis
OMIM:600376	ACVRL1	94	HP:0000006	Autosomal dominant inheritance
OMIM:615330	IBA57	200205	HP:0002059	Cerebral atrophy
OMIM:615330	IBA57	200205	HP:0000218	High palate
OMIM:615330	IBA57	200205	HP:0003577	Congenital onset
OMIM:615330	IBA57	200205	HP:0006610	Wide intermamillary distance
OMIM:615330	IBA57	200205	HP:0006829	Severe muscular hypotonia
OMIM:615330	IBA57	200205	HP:0001298	Encephalopathy
OMIM:615330	IBA57	200205	HP:0002126	Polymicrogyria
OMIM:615330	IBA57	200205	HP:0002804	Arthrogryposis multiplex congenita
OMIM:615330	IBA57	200205	HP:0000007	Autosomal recessive inheritance
OMIM:615330	IBA57	200205	HP:0003287	Abnormality of mitochondrial metabolism
OMIM:615330	IBA57	200205	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615330	IBA57	200205	HP:0001511	Intrauterine growth retardation
OMIM:615330	IBA57	200205	HP:0001561	Polyhydramnios
OMIM:615330	IBA57	200205	HP:0003128	Lactic acidosis
OMIM:615330	IBA57	200205	HP:0000252	Microcephaly
OMIM:615330	IBA57	200205	HP:0000278	Retrognathia
OMIM:615330	IBA57	200205	HP:0001942	Metabolic acidosis
OMIM:607676	IRAK4	51135	HP:0002721	Immunodeficiency
OMIM:607676	IRAK4	51135	HP:0001874	Abnormality of neutrophils
OMIM:607676	IRAK4	51135	HP:0010978	Abnormality of immune system physiology
OMIM:607676	IRAK4	51135	HP:0100763	Abnormality of the lymphatic system
OMIM:170500	SCN4A	6329	HP:0004305	Involuntary movements
OMIM:170500	SCN4A	6329	HP:0008872	Feeding difficulties in infancy
OMIM:170500	SCN4A	6329	HP:0000597	Ophthalmoparesis
OMIM:170500	SCN4A	6329	HP:0001276	Hypertonia
OMIM:170500	SCN4A	6329	HP:0003712	Skeletal muscle hypertrophy
OMIM:170500	SCN4A	6329	HP:0001635	Congestive heart failure
OMIM:170500	SCN4A	6329	HP:0003198	Myopathy
OMIM:170500	SCN4A	6329	HP:0003326	Myalgia
OMIM:170500	SCN4A	6329	HP:0003457	EMG abnormality
OMIM:170500	SCN4A	6329	HP:0001315	Reduced tendon reflexes
OMIM:170500	SCN4A	6329	HP:0003202	Skeletal muscle atrophy
OMIM:170500	SCN4A	6329	HP:0002093	Respiratory insufficiency
OMIM:170500	SCN4A	6329	HP:0003401	Paresthesia
OMIM:170500	SCN4A	6329	HP:0001288	Gait disturbance
OMIM:170500	SCN4A	6329	HP:0003593	Infantile onset
OMIM:170500	SCN4A	6329	HP:0002153	Hyperkalemia
OMIM:170500	SCN4A	6329	HP:0011675	Arrhythmia
OMIM:170500	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:170500	SCN4A	6329	HP:0001371	Flexion contracture
OMIM:170500	SCN4A	6329	HP:0002607	Bowel incontinence
OMIM:170500	SCN4A	6329	HP:0100749	Chest pain
OMIM:614883	PEX19	5824	HP:0002104	Apnea
OMIM:614883	PEX19	5824	HP:0000239	Large fontanelles
OMIM:614883	PEX19	5824	HP:0001339	Lissencephaly
OMIM:614883	PEX19	5824	HP:0003429	CNS hypomyelination
OMIM:614883	PEX19	5824	HP:0000107	Renal cyst
OMIM:614883	PEX19	5824	HP:0001263	Global developmental delay
OMIM:614883	PEX19	5824	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX19	5824	HP:0000325	Triangular face
OMIM:614883	PEX19	5824	HP:0001410	Decreased liver function
OMIM:614883	PEX19	5824	HP:0002126	Polymicrogyria
OMIM:614883	PEX19	5824	HP:0001508	Failure to thrive
OMIM:614883	PEX19	5824	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX19	5824	HP:0100729	Large face
OMIM:614883	PEX19	5824	HP:0000348	High forehead
OMIM:614883	PEX19	5824	HP:0001250	Seizures
OMIM:614883	PEX19	5824	HP:0000463	Anteverted nares
OMIM:614883	PEX16	9409	HP:0002104	Apnea
OMIM:614883	PEX16	9409	HP:0000239	Large fontanelles
OMIM:614883	PEX16	9409	HP:0001339	Lissencephaly
OMIM:614883	PEX16	9409	HP:0003429	CNS hypomyelination
OMIM:614883	PEX16	9409	HP:0000107	Renal cyst
OMIM:614883	PEX16	9409	HP:0001263	Global developmental delay
OMIM:614883	PEX16	9409	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX16	9409	HP:0000325	Triangular face
OMIM:614883	PEX16	9409	HP:0001410	Decreased liver function
OMIM:614883	PEX16	9409	HP:0002126	Polymicrogyria
OMIM:614883	PEX16	9409	HP:0001508	Failure to thrive
OMIM:614883	PEX16	9409	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX16	9409	HP:0100729	Large face
OMIM:614883	PEX16	9409	HP:0000348	High forehead
OMIM:614883	PEX16	9409	HP:0001250	Seizures
OMIM:614883	PEX16	9409	HP:0000463	Anteverted nares
OMIM:614883	PEX2	5828	HP:0002104	Apnea
OMIM:614883	PEX2	5828	HP:0000239	Large fontanelles
OMIM:614883	PEX2	5828	HP:0001339	Lissencephaly
OMIM:614883	PEX2	5828	HP:0003429	CNS hypomyelination
OMIM:614883	PEX2	5828	HP:0000107	Renal cyst
OMIM:614883	PEX2	5828	HP:0001263	Global developmental delay
OMIM:614883	PEX2	5828	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX2	5828	HP:0000325	Triangular face
OMIM:614883	PEX2	5828	HP:0001410	Decreased liver function
OMIM:614883	PEX2	5828	HP:0002126	Polymicrogyria
OMIM:614883	PEX2	5828	HP:0001508	Failure to thrive
OMIM:614883	PEX2	5828	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX2	5828	HP:0100729	Large face
OMIM:614883	PEX2	5828	HP:0000348	High forehead
OMIM:614883	PEX2	5828	HP:0001250	Seizures
OMIM:614883	PEX2	5828	HP:0000463	Anteverted nares
OMIM:614883	PEX1	5189	HP:0002104	Apnea
OMIM:614883	PEX1	5189	HP:0000239	Large fontanelles
OMIM:614883	PEX1	5189	HP:0001339	Lissencephaly
OMIM:614883	PEX1	5189	HP:0003429	CNS hypomyelination
OMIM:614883	PEX1	5189	HP:0000107	Renal cyst
OMIM:614883	PEX1	5189	HP:0001263	Global developmental delay
OMIM:614883	PEX1	5189	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX1	5189	HP:0000325	Triangular face
OMIM:614883	PEX1	5189	HP:0001410	Decreased liver function
OMIM:614883	PEX1	5189	HP:0002126	Polymicrogyria
OMIM:614883	PEX1	5189	HP:0001508	Failure to thrive
OMIM:614883	PEX1	5189	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX1	5189	HP:0100729	Large face
OMIM:614883	PEX1	5189	HP:0000348	High forehead
OMIM:614883	PEX1	5189	HP:0001250	Seizures
OMIM:614883	PEX1	5189	HP:0000463	Anteverted nares
OMIM:614883	PEX5	5830	HP:0002104	Apnea
OMIM:614883	PEX5	5830	HP:0000239	Large fontanelles
OMIM:614883	PEX5	5830	HP:0001339	Lissencephaly
OMIM:614883	PEX5	5830	HP:0003429	CNS hypomyelination
OMIM:614883	PEX5	5830	HP:0000107	Renal cyst
OMIM:614883	PEX5	5830	HP:0001263	Global developmental delay
OMIM:614883	PEX5	5830	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX5	5830	HP:0000325	Triangular face
OMIM:614883	PEX5	5830	HP:0001410	Decreased liver function
OMIM:614883	PEX5	5830	HP:0002126	Polymicrogyria
OMIM:614883	PEX5	5830	HP:0001508	Failure to thrive
OMIM:614883	PEX5	5830	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX5	5830	HP:0100729	Large face
OMIM:614883	PEX5	5830	HP:0000348	High forehead
OMIM:614883	PEX5	5830	HP:0001250	Seizures
OMIM:614883	PEX5	5830	HP:0000463	Anteverted nares
OMIM:614883	PEX6	5190	HP:0002104	Apnea
OMIM:614883	PEX6	5190	HP:0000239	Large fontanelles
OMIM:614883	PEX6	5190	HP:0001339	Lissencephaly
OMIM:614883	PEX6	5190	HP:0003429	CNS hypomyelination
OMIM:614883	PEX6	5190	HP:0000107	Renal cyst
OMIM:614883	PEX6	5190	HP:0001263	Global developmental delay
OMIM:614883	PEX6	5190	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX6	5190	HP:0000325	Triangular face
OMIM:614883	PEX6	5190	HP:0001410	Decreased liver function
OMIM:614883	PEX6	5190	HP:0002126	Polymicrogyria
OMIM:614883	PEX6	5190	HP:0001508	Failure to thrive
OMIM:614883	PEX6	5190	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX6	5190	HP:0100729	Large face
OMIM:614883	PEX6	5190	HP:0000348	High forehead
OMIM:614883	PEX6	5190	HP:0001250	Seizures
OMIM:614883	PEX6	5190	HP:0000463	Anteverted nares
OMIM:614883	PEX10	5192	HP:0002104	Apnea
OMIM:614883	PEX10	5192	HP:0000239	Large fontanelles
OMIM:614883	PEX10	5192	HP:0001339	Lissencephaly
OMIM:614883	PEX10	5192	HP:0003429	CNS hypomyelination
OMIM:614883	PEX10	5192	HP:0000107	Renal cyst
OMIM:614883	PEX10	5192	HP:0001263	Global developmental delay
OMIM:614883	PEX10	5192	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX10	5192	HP:0000325	Triangular face
OMIM:614883	PEX10	5192	HP:0001410	Decreased liver function
OMIM:614883	PEX10	5192	HP:0002126	Polymicrogyria
OMIM:614883	PEX10	5192	HP:0001508	Failure to thrive
OMIM:614883	PEX10	5192	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX10	5192	HP:0100729	Large face
OMIM:614883	PEX10	5192	HP:0000348	High forehead
OMIM:614883	PEX10	5192	HP:0001250	Seizures
OMIM:614883	PEX10	5192	HP:0000463	Anteverted nares
OMIM:614883	PEX12	5193	HP:0002104	Apnea
OMIM:614883	PEX12	5193	HP:0000239	Large fontanelles
OMIM:614883	PEX12	5193	HP:0001339	Lissencephaly
OMIM:614883	PEX12	5193	HP:0003429	CNS hypomyelination
OMIM:614883	PEX12	5193	HP:0000107	Renal cyst
OMIM:614883	PEX12	5193	HP:0001263	Global developmental delay
OMIM:614883	PEX12	5193	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX12	5193	HP:0000325	Triangular face
OMIM:614883	PEX12	5193	HP:0001410	Decreased liver function
OMIM:614883	PEX12	5193	HP:0002126	Polymicrogyria
OMIM:614883	PEX12	5193	HP:0001508	Failure to thrive
OMIM:614883	PEX12	5193	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX12	5193	HP:0100729	Large face
OMIM:614883	PEX12	5193	HP:0000348	High forehead
OMIM:614883	PEX12	5193	HP:0001250	Seizures
OMIM:614883	PEX12	5193	HP:0000463	Anteverted nares
OMIM:614883	PEX13	5194	HP:0002104	Apnea
OMIM:614883	PEX13	5194	HP:0000239	Large fontanelles
OMIM:614883	PEX13	5194	HP:0001339	Lissencephaly
OMIM:614883	PEX13	5194	HP:0003429	CNS hypomyelination
OMIM:614883	PEX13	5194	HP:0000107	Renal cyst
OMIM:614883	PEX13	5194	HP:0001263	Global developmental delay
OMIM:614883	PEX13	5194	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX13	5194	HP:0000325	Triangular face
OMIM:614883	PEX13	5194	HP:0001410	Decreased liver function
OMIM:614883	PEX13	5194	HP:0002126	Polymicrogyria
OMIM:614883	PEX13	5194	HP:0001508	Failure to thrive
OMIM:614883	PEX13	5194	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX13	5194	HP:0100729	Large face
OMIM:614883	PEX13	5194	HP:0000348	High forehead
OMIM:614883	PEX13	5194	HP:0001250	Seizures
OMIM:614883	PEX13	5194	HP:0000463	Anteverted nares
OMIM:614883	PEX14	5195	HP:0002104	Apnea
OMIM:614883	PEX14	5195	HP:0000239	Large fontanelles
OMIM:614883	PEX14	5195	HP:0001339	Lissencephaly
OMIM:614883	PEX14	5195	HP:0003429	CNS hypomyelination
OMIM:614883	PEX14	5195	HP:0000107	Renal cyst
OMIM:614883	PEX14	5195	HP:0001263	Global developmental delay
OMIM:614883	PEX14	5195	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX14	5195	HP:0000325	Triangular face
OMIM:614883	PEX14	5195	HP:0001410	Decreased liver function
OMIM:614883	PEX14	5195	HP:0002126	Polymicrogyria
OMIM:614883	PEX14	5195	HP:0001508	Failure to thrive
OMIM:614883	PEX14	5195	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX14	5195	HP:0100729	Large face
OMIM:614883	PEX14	5195	HP:0000348	High forehead
OMIM:614883	PEX14	5195	HP:0001250	Seizures
OMIM:614883	PEX14	5195	HP:0000463	Anteverted nares
OMIM:614883	PEX26	55670	HP:0002104	Apnea
OMIM:614883	PEX26	55670	HP:0000239	Large fontanelles
OMIM:614883	PEX26	55670	HP:0001339	Lissencephaly
OMIM:614883	PEX26	55670	HP:0003429	CNS hypomyelination
OMIM:614883	PEX26	55670	HP:0000107	Renal cyst
OMIM:614883	PEX26	55670	HP:0001263	Global developmental delay
OMIM:614883	PEX26	55670	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX26	55670	HP:0000325	Triangular face
OMIM:614883	PEX26	55670	HP:0001410	Decreased liver function
OMIM:614883	PEX26	55670	HP:0002126	Polymicrogyria
OMIM:614883	PEX26	55670	HP:0001508	Failure to thrive
OMIM:614883	PEX26	55670	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX26	55670	HP:0100729	Large face
OMIM:614883	PEX26	55670	HP:0000348	High forehead
OMIM:614883	PEX26	55670	HP:0001250	Seizures
OMIM:614883	PEX26	55670	HP:0000463	Anteverted nares
OMIM:614883	PEX3	8504	HP:0002104	Apnea
OMIM:614883	PEX3	8504	HP:0000239	Large fontanelles
OMIM:614883	PEX3	8504	HP:0001339	Lissencephaly
OMIM:614883	PEX3	8504	HP:0003429	CNS hypomyelination
OMIM:614883	PEX3	8504	HP:0000107	Renal cyst
OMIM:614883	PEX3	8504	HP:0001263	Global developmental delay
OMIM:614883	PEX3	8504	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX3	8504	HP:0000325	Triangular face
OMIM:614883	PEX3	8504	HP:0001410	Decreased liver function
OMIM:614883	PEX3	8504	HP:0002126	Polymicrogyria
OMIM:614883	PEX3	8504	HP:0001508	Failure to thrive
OMIM:614883	PEX3	8504	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX3	8504	HP:0100729	Large face
OMIM:614883	PEX3	8504	HP:0000348	High forehead
OMIM:614883	PEX3	8504	HP:0001250	Seizures
OMIM:614883	PEX3	8504	HP:0000463	Anteverted nares
OMIM:614883	PEX11B	8799	HP:0002104	Apnea
OMIM:614883	PEX11B	8799	HP:0000239	Large fontanelles
OMIM:614883	PEX11B	8799	HP:0001339	Lissencephaly
OMIM:614883	PEX11B	8799	HP:0003429	CNS hypomyelination
OMIM:614883	PEX11B	8799	HP:0000107	Renal cyst
OMIM:614883	PEX11B	8799	HP:0001263	Global developmental delay
OMIM:614883	PEX11B	8799	HP:0002910	Elevated hepatic transaminases
OMIM:614883	PEX11B	8799	HP:0000325	Triangular face
OMIM:614883	PEX11B	8799	HP:0001410	Decreased liver function
OMIM:614883	PEX11B	8799	HP:0002126	Polymicrogyria
OMIM:614883	PEX11B	8799	HP:0001508	Failure to thrive
OMIM:614883	PEX11B	8799	HP:0005280	Depressed nasal bridge
OMIM:614883	PEX11B	8799	HP:0100729	Large face
OMIM:614883	PEX11B	8799	HP:0000348	High forehead
OMIM:614883	PEX11B	8799	HP:0001250	Seizures
OMIM:614883	PEX11B	8799	HP:0000463	Anteverted nares
OMIM:613554	VWF	7450	HP:0000006	Autosomal dominant inheritance
OMIM:613554	VWF	7450	HP:0000421	Epistaxis
OMIM:613554	VWF	7450	HP:0000007	Autosomal recessive inheritance
OMIM:613554	VWF	7450	HP:0000978	Bruising susceptibility
OMIM:613554	VWF	7450	HP:0003828	Variable expressivity
OMIM:200100	MTTP	4547	HP:0100022	Abnormality of movement
OMIM:200100	MTTP	4547	HP:0001146	Pigmentary retinal degeneration
OMIM:200100	MTTP	4547	HP:0007305	CNS demyelination
OMIM:200100	MTTP	4547	HP:0000007	Autosomal recessive inheritance
OMIM:200100	MTTP	4547	HP:0001252	Muscular hypotonia
OMIM:200100	MTTP	4547	HP:0002630	Fat malabsorption
OMIM:200100	MTTP	4547	HP:0002311	Incoordination
OMIM:200100	MTTP	4547	HP:0001315	Reduced tendon reflexes
OMIM:200100	MTTP	4547	HP:0011096	Peripheral demyelination
OMIM:200100	MTTP	4547	HP:0000488	Retinopathy
OMIM:200100	MTTP	4547	HP:0007703	Abnormality of retinal pigmentation
OMIM:200100	MTTP	4547	HP:0000505	Visual impairment
OMIM:200100	MTTP	4547	HP:0001251	Ataxia
OMIM:200100	MTTP	4547	HP:0002024	Malabsorption
OMIM:611302	KIF1C	10749	HP:0001257	Spasticity
OMIM:611302	KIF1C	10749	HP:0002380	Fasciculations
OMIM:611302	KIF1C	10749	HP:0003487	Babinski sign
OMIM:611302	KIF1C	10749	HP:0002359	Frequent falls
OMIM:611302	KIF1C	10749	HP:0001347	Hyperreflexia
OMIM:611302	KIF1C	10749	HP:0001260	Dysarthria
OMIM:611302	KIF1C	10749	HP:0003693	Distal amyotrophy
OMIM:611302	KIF1C	10749	HP:0000007	Autosomal recessive inheritance
OMIM:611302	KIF1C	10749	HP:0002066	Gait ataxia
OMIM:611302	KIF1C	10749	HP:0003676	Progressive
OMIM:611302	KIF1C	10749	HP:0001272	Cerebellar atrophy
OMIM:611302	KIF1C	10749	HP:0001310	Dysmetria
OMIM:225450	EPB41	2035	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225450	EPB41	2035	HP:0001878	Hemolytic anemia
OMIM:225450	EPB41	2035	HP:0000007	Autosomal recessive inheritance
OMIM:225450	GYPC	2995	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225450	GYPC	2995	HP:0001878	Hemolytic anemia
OMIM:225450	GYPC	2995	HP:0000007	Autosomal recessive inheritance
OMIM:225450	SPTA1	6708	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225450	SPTA1	6708	HP:0001878	Hemolytic anemia
OMIM:225450	SPTA1	6708	HP:0000007	Autosomal recessive inheritance
OMIM:225450	SPTB	6710	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:225450	SPTB	6710	HP:0001878	Hemolytic anemia
OMIM:225450	SPTB	6710	HP:0000007	Autosomal recessive inheritance
OMIM:609452	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:609452	LDB3	11155	HP:0003445	EMG: neuropathic changes
OMIM:609452	LDB3	11155	HP:0003736	Autophagic vacuoles
OMIM:609452	LDB3	11155	HP:0003458	EMG: myopathic abnormalities
OMIM:609452	LDB3	11155	HP:0003236	Elevated serum creatine phosphokinase
OMIM:609452	LDB3	11155	HP:0001271	Polyneuropathy
OMIM:609452	LDB3	11155	HP:0001638	Cardiomyopathy
OMIM:609452	LDB3	11155	HP:0003584	Late onset
ORPHANET:99832	TRHR	7201	HP:0000280	Coarse facial features
ORPHANET:99832	TRHR	7201	HP:0001537	Umbilical hernia
ORPHANET:99832	TRHR	7201	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:99832	TRHR	7201	HP:0000821	Hypothyroidism
ORPHANET:99832	TRHR	7201	HP:0001392	Abnormality of the liver
ORPHANET:99832	TRHR	7201	HP:0000157	Abnormality of the tongue
ORPHANET:99832	TRHR	7201	HP:0001252	Muscular hypotonia
ORPHANET:99832	TRHR	7201	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:99832	TRHR	7201	HP:0002360	Sleep disturbance
ORPHANET:99832	TRHR	7201	HP:0002019	Constipation
OMIM:101900	ATP2A2	488	HP:0000006	Autosomal dominant inheritance
OMIM:101900	ATP2A2	488	HP:0000962	Hyperkeratosis
OMIM:616267	PNKP	11284	HP:0002445	Tetraplegia
OMIM:616267	PNKP	11284	HP:0001272	Cerebellar atrophy
OMIM:616267	PNKP	11284	HP:0001251	Ataxia
OMIM:616267	PNKP	11284	HP:0000657	Oculomotor apraxia
OMIM:616267	PNKP	11284	HP:0009830	Peripheral neuropathy
OMIM:616267	PNKP	11284	HP:0100543	Cognitive impairment
OMIM:616267	PNKP	11284	HP:0001284	Areflexia
OMIM:616267	PNKP	11284	HP:0001332	Dystonia
OMIM:606217	CRELD1	78987	HP:0000006	Autosomal dominant inheritance
OMIM:606217	CRELD1	78987	HP:0003829	Incomplete penetrance
OMIM:606217	CRELD1	78987	HP:0001651	Dextrocardia
OMIM:606217	CRELD1	78987	HP:0002627	Right aortic arch with mirror image branching
OMIM:606217	CRELD1	78987	HP:0004935	Pulmonary artery atresia
OMIM:606217	CRELD1	78987	HP:0005298	Atrioventricular canal defect with right ventricle aorta and pulmonary atresia
OMIM:613424	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:613424	TPM1	7168	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:613424	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:613424	TPM1	7168	HP:0001712	Left ventricular hypertrophy
OMIM:613424	TPM1	7168	HP:0004308	Ventricular arrhythmia
OMIM:613424	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:613424	CRYAB	1410	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:613424	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:613424	CRYAB	1410	HP:0001712	Left ventricular hypertrophy
OMIM:613424	CRYAB	1410	HP:0004308	Ventricular arrhythmia
OMIM:613424	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:613424	ACTC1	70	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:613424	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613424	ACTC1	70	HP:0001712	Left ventricular hypertrophy
OMIM:613424	ACTC1	70	HP:0004308	Ventricular arrhythmia
OMIM:613424	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:613424	RAF1	5894	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:613424	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:613424	RAF1	5894	HP:0001712	Left ventricular hypertrophy
OMIM:613424	RAF1	5894	HP:0004308	Ventricular arrhythmia
OMIM:613424	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:613424	GATAD1	57798	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:613424	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613424	GATAD1	57798	HP:0001712	Left ventricular hypertrophy
OMIM:613424	GATAD1	57798	HP:0004308	Ventricular arrhythmia
OMIM:613424	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:613424	LAMA4	3910	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:613424	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:613424	LAMA4	3910	HP:0001712	Left ventricular hypertrophy
OMIM:613424	LAMA4	3910	HP:0004308	Ventricular arrhythmia
OMIM:613424	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:613424	TMPO	7112	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:613424	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613424	TMPO	7112	HP:0001712	Left ventricular hypertrophy
OMIM:613424	TMPO	7112	HP:0004308	Ventricular arrhythmia
OMIM:613424	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:613424	DES	1674	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	DES	1674	HP:0001635	Congestive heart failure
OMIM:613424	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:613424	DES	1674	HP:0001712	Left ventricular hypertrophy
OMIM:613424	DES	1674	HP:0004308	Ventricular arrhythmia
OMIM:613424	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:613424	ABCC9	10060	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:613424	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:613424	ABCC9	10060	HP:0001712	Left ventricular hypertrophy
OMIM:613424	ABCC9	10060	HP:0004308	Ventricular arrhythmia
OMIM:613424	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:613424	MYH6	4624	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:613424	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:613424	MYH6	4624	HP:0001712	Left ventricular hypertrophy
OMIM:613424	MYH6	4624	HP:0004308	Ventricular arrhythmia
OMIM:613424	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:613424	MYH7	4625	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:613424	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613424	MYH7	4625	HP:0001712	Left ventricular hypertrophy
OMIM:613424	MYH7	4625	HP:0004308	Ventricular arrhythmia
OMIM:613424	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:613424	LDB3	11155	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:613424	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:613424	LDB3	11155	HP:0001712	Left ventricular hypertrophy
OMIM:613424	LDB3	11155	HP:0004308	Ventricular arrhythmia
OMIM:613424	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:613424	ACTN2	88	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:613424	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:613424	ACTN2	88	HP:0001712	Left ventricular hypertrophy
OMIM:613424	ACTN2	88	HP:0004308	Ventricular arrhythmia
OMIM:613424	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:613424	TXNRD2	10587	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:613424	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:613424	TXNRD2	10587	HP:0001712	Left ventricular hypertrophy
OMIM:613424	TXNRD2	10587	HP:0004308	Ventricular arrhythmia
OMIM:613424	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:613424	DMD	1756	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	DMD	1756	HP:0001635	Congestive heart failure
OMIM:613424	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:613424	DMD	1756	HP:0001712	Left ventricular hypertrophy
OMIM:613424	DMD	1756	HP:0004308	Ventricular arrhythmia
OMIM:613424	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:613424	TNNC1	7134	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:613424	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:613424	TNNC1	7134	HP:0001712	Left ventricular hypertrophy
OMIM:613424	TNNC1	7134	HP:0004308	Ventricular arrhythmia
OMIM:613424	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:613424	PSEN1	5663	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:613424	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613424	PSEN1	5663	HP:0001712	Left ventricular hypertrophy
OMIM:613424	PSEN1	5663	HP:0004308	Ventricular arrhythmia
OMIM:613424	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:613424	LMNA	4000	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:613424	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:613424	LMNA	4000	HP:0001712	Left ventricular hypertrophy
OMIM:613424	LMNA	4000	HP:0004308	Ventricular arrhythmia
OMIM:613424	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:613424	PSEN2	5664	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:613424	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:613424	PSEN2	5664	HP:0001712	Left ventricular hypertrophy
OMIM:613424	PSEN2	5664	HP:0004308	Ventricular arrhythmia
OMIM:613424	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:613424	TNNI3	7137	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:613424	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:613424	TNNI3	7137	HP:0001712	Left ventricular hypertrophy
OMIM:613424	TNNI3	7137	HP:0004308	Ventricular arrhythmia
OMIM:613424	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:613424	FHL2	2274	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:613424	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:613424	FHL2	2274	HP:0001712	Left ventricular hypertrophy
OMIM:613424	FHL2	2274	HP:0004308	Ventricular arrhythmia
OMIM:613424	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:613424	TNNT2	7139	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:613424	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:613424	TNNT2	7139	HP:0001712	Left ventricular hypertrophy
OMIM:613424	TNNT2	7139	HP:0004308	Ventricular arrhythmia
OMIM:613424	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:613424	DSG2	1829	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:613424	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:613424	DSG2	1829	HP:0001712	Left ventricular hypertrophy
OMIM:613424	DSG2	1829	HP:0004308	Ventricular arrhythmia
OMIM:613424	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:613424	PLN	5350	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	PLN	5350	HP:0001635	Congestive heart failure
OMIM:613424	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:613424	PLN	5350	HP:0001712	Left ventricular hypertrophy
OMIM:613424	PLN	5350	HP:0004308	Ventricular arrhythmia
OMIM:613424	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:613424	PRDM16	63976	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:613424	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:613424	PRDM16	63976	HP:0001712	Left ventricular hypertrophy
OMIM:613424	PRDM16	63976	HP:0004308	Ventricular arrhythmia
OMIM:613424	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:613424	TTN	7273	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	TTN	7273	HP:0001635	Congestive heart failure
OMIM:613424	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613424	TTN	7273	HP:0001712	Left ventricular hypertrophy
OMIM:613424	TTN	7273	HP:0004308	Ventricular arrhythmia
OMIM:613424	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:613424	NEXN	91624	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:613424	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:613424	NEXN	91624	HP:0001712	Left ventricular hypertrophy
OMIM:613424	NEXN	91624	HP:0004308	Ventricular arrhythmia
OMIM:613424	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:613424	FKTN	2218	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:613424	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:613424	FKTN	2218	HP:0001712	Left ventricular hypertrophy
OMIM:613424	FKTN	2218	HP:0004308	Ventricular arrhythmia
OMIM:613424	MYH7B	57644	HP:0000006	Autosomal dominant inheritance
OMIM:613424	MYH7B	57644	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	MYH7B	57644	HP:0001635	Congestive heart failure
OMIM:613424	MYH7B	57644	HP:0001644	Dilated cardiomyopathy
OMIM:613424	MYH7B	57644	HP:0001712	Left ventricular hypertrophy
OMIM:613424	MYH7B	57644	HP:0004308	Ventricular arrhythmia
OMIM:613424	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:613424	SGCD	6444	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:613424	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:613424	SGCD	6444	HP:0001712	Left ventricular hypertrophy
OMIM:613424	SGCD	6444	HP:0004308	Ventricular arrhythmia
OMIM:613424	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:613424	DTNA	1837	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	DTNA	1837	HP:0001635	Congestive heart failure
OMIM:613424	DTNA	1837	HP:0001644	Dilated cardiomyopathy
OMIM:613424	DTNA	1837	HP:0001712	Left ventricular hypertrophy
OMIM:613424	DTNA	1837	HP:0004308	Ventricular arrhythmia
OMIM:613424	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:613424	TCAP	8557	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:613424	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:613424	TCAP	8557	HP:0001712	Left ventricular hypertrophy
OMIM:613424	TCAP	8557	HP:0004308	Ventricular arrhythmia
OMIM:613424	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:613424	CSRP3	8048	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:613424	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:613424	CSRP3	8048	HP:0001712	Left ventricular hypertrophy
OMIM:613424	CSRP3	8048	HP:0004308	Ventricular arrhythmia
OMIM:613424	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:613424	RBM20	282996	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:613424	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:613424	RBM20	282996	HP:0001712	Left ventricular hypertrophy
OMIM:613424	RBM20	282996	HP:0004308	Ventricular arrhythmia
OMIM:613424	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:613424	TAZ	6901	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:613424	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:613424	TAZ	6901	HP:0001712	Left ventricular hypertrophy
OMIM:613424	TAZ	6901	HP:0004308	Ventricular arrhythmia
OMIM:613424	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:613424	SDHA	6389	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:613424	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:613424	SDHA	6389	HP:0001712	Left ventricular hypertrophy
OMIM:613424	SDHA	6389	HP:0004308	Ventricular arrhythmia
OMIM:613424	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:613424	VCL	7414	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	VCL	7414	HP:0001635	Congestive heart failure
OMIM:613424	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:613424	VCL	7414	HP:0001712	Left ventricular hypertrophy
OMIM:613424	VCL	7414	HP:0004308	Ventricular arrhythmia
OMIM:613424	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:613424	MYPN	84665	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:613424	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:613424	MYPN	84665	HP:0001712	Left ventricular hypertrophy
OMIM:613424	MYPN	84665	HP:0004308	Ventricular arrhythmia
OMIM:613424	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613424	SCN5A	6331	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:613424	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:613424	SCN5A	6331	HP:0001712	Left ventricular hypertrophy
OMIM:613424	SCN5A	6331	HP:0004308	Ventricular arrhythmia
OMIM:613424	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:613424	BAG3	9531	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:613424	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:613424	BAG3	9531	HP:0001712	Left ventricular hypertrophy
OMIM:613424	BAG3	9531	HP:0004308	Ventricular arrhythmia
OMIM:613424	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:613424	DOLK	22845	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:613424	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:613424	DOLK	22845	HP:0001712	Left ventricular hypertrophy
OMIM:613424	DOLK	22845	HP:0004308	Ventricular arrhythmia
OMIM:613424	MIB1	57534	HP:0000006	Autosomal dominant inheritance
OMIM:613424	MIB1	57534	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	MIB1	57534	HP:0001635	Congestive heart failure
OMIM:613424	MIB1	57534	HP:0001644	Dilated cardiomyopathy
OMIM:613424	MIB1	57534	HP:0001712	Left ventricular hypertrophy
OMIM:613424	MIB1	57534	HP:0004308	Ventricular arrhythmia
OMIM:613424	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:613424	MYBPC3	4607	HP:0001723	Restrictive cardiomyopathy
OMIM:613424	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:613424	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:613424	MYBPC3	4607	HP:0001712	Left ventricular hypertrophy
OMIM:613424	MYBPC3	4607	HP:0004308	Ventricular arrhythmia
OMIM:615873	ADNP	23394	HP:0011968	Feeding difficulties
OMIM:615873	ADNP	23394	HP:0000540	Hypermetropia
OMIM:615873	ADNP	23394	HP:0000625	Cleft eyelid
OMIM:615873	ADNP	23394	HP:0004322	Short stature
OMIM:615873	ADNP	23394	HP:0001388	Joint laxity
OMIM:615873	ADNP	23394	HP:0000486	Strabismus
OMIM:615873	ADNP	23394	HP:0001263	Global developmental delay
OMIM:615873	ADNP	23394	HP:0001513	Obesity
OMIM:615873	ADNP	23394	HP:0001249	Intellectual disability
OMIM:615873	ADNP	23394	HP:0000729	Autistic behavior
OMIM:615873	ADNP	23394	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:615873	ADNP	23394	HP:0003196	Short nose
OMIM:615873	ADNP	23394	HP:0000219	Thin upper lip vermilion
OMIM:615873	ADNP	23394	HP:0001250	Seizures
OMIM:615873	ADNP	23394	HP:0002719	Recurrent infections
OMIM:615873	ADNP	23394	HP:0000505	Visual impairment
OMIM:615873	ADNP	23394	HP:0000733	Stereotypic behavior
OMIM:615873	ADNP	23394	HP:0001252	Muscular hypotonia
OMIM:615873	ADNP	23394	HP:0000752	Hyperactivity
OMIM:615873	ADNP	23394	HP:0011220	Prominent forehead
OMIM:615873	ADNP	23394	HP:0200055	Small hand
OMIM:615873	ADNP	23394	HP:0000319	Smooth philtrum
OMIM:615873	ADNP	23394	HP:0000508	Ptosis
OMIM:615873	ADNP	23394	HP:0002463	Language impairment
OMIM:615873	ADNP	23394	HP:0000431	Wide nasal bridge
OMIM:615873	ADNP	23394	HP:0000494	Downslanted palpebral fissures
OMIM:615873	ADNP	23394	HP:0000722	Obsessive-compulsive behavior
OMIM:614820	CACNA1A	773	HP:0001332	Dystonia
OMIM:614820	CACNA1A	773	HP:0001266	Choreoathetosis
OMIM:614820	CACNA1A	773	HP:0001263	Global developmental delay
OMIM:614820	CACNA1A	773	HP:0000006	Autosomal dominant inheritance
OMIM:614820	CACNA1A	773	HP:0002133	Status epilepticus
OMIM:614820	CACNA1A	773	HP:0001251	Ataxia
OMIM:614820	CACNA1A	773	HP:0001268	Mental deterioration
OMIM:614820	CACNA1A	773	HP:0000496	Abnormality of eye movement
OMIM:614820	SLC1A3	6507	HP:0001332	Dystonia
OMIM:614820	SLC1A3	6507	HP:0001266	Choreoathetosis
OMIM:614820	SLC1A3	6507	HP:0001263	Global developmental delay
OMIM:614820	SLC1A3	6507	HP:0000006	Autosomal dominant inheritance
OMIM:614820	SLC1A3	6507	HP:0002133	Status epilepticus
OMIM:614820	SLC1A3	6507	HP:0001251	Ataxia
OMIM:614820	SLC1A3	6507	HP:0001268	Mental deterioration
OMIM:614820	SLC1A3	6507	HP:0000496	Abnormality of eye movement
OMIM:614820	ATP1A2	477	HP:0001332	Dystonia
OMIM:614820	ATP1A2	477	HP:0001266	Choreoathetosis
OMIM:614820	ATP1A2	477	HP:0001263	Global developmental delay
OMIM:614820	ATP1A2	477	HP:0000006	Autosomal dominant inheritance
OMIM:614820	ATP1A2	477	HP:0002133	Status epilepticus
OMIM:614820	ATP1A2	477	HP:0001251	Ataxia
OMIM:614820	ATP1A2	477	HP:0001268	Mental deterioration
OMIM:614820	ATP1A2	477	HP:0000496	Abnormality of eye movement
OMIM:614820	ATP1A3	478	HP:0001332	Dystonia
OMIM:614820	ATP1A3	478	HP:0001266	Choreoathetosis
OMIM:614820	ATP1A3	478	HP:0001263	Global developmental delay
OMIM:614820	ATP1A3	478	HP:0000006	Autosomal dominant inheritance
OMIM:614820	ATP1A3	478	HP:0002133	Status epilepticus
OMIM:614820	ATP1A3	478	HP:0001251	Ataxia
OMIM:614820	ATP1A3	478	HP:0001268	Mental deterioration
OMIM:614820	ATP1A3	478	HP:0000496	Abnormality of eye movement
OMIM:185800	GDF5	8200	HP:0000381	Stapes ankylosis
OMIM:185800	GDF5	8200	HP:0008368	Tarsal synostosis
OMIM:185800	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:185800	GDF5	8200	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:185800	GDF5	8200	HP:0006152	Proximal symphalangism (hands)
OMIM:185800	GDF5	8200	HP:0000405	Conductive hearing impairment
OMIM:185800	GDF5	8200	HP:0009702	Carpal synostosis
OMIM:185800	GDF5	8200	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
OMIM:185800	NOG	9241	HP:0000381	Stapes ankylosis
OMIM:185800	NOG	9241	HP:0008368	Tarsal synostosis
OMIM:185800	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:185800	NOG	9241	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
OMIM:185800	NOG	9241	HP:0006152	Proximal symphalangism (hands)
OMIM:185800	NOG	9241	HP:0000405	Conductive hearing impairment
OMIM:185800	NOG	9241	HP:0009702	Carpal synostosis
OMIM:185800	NOG	9241	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
ORPHANET:52429	EYA1	2138	HP:0000407	Sensorineural hearing impairment
ORPHANET:52429	EYA1	2138	HP:0010767	Sacrococcygeal pilonidal abnormality
ORPHANET:52429	EYA1	2138	HP:0000413	Atresia of the external auditory canal
ORPHANET:52429	EYA1	2138	HP:0000384	Preauricular skin tag
ORPHANET:52429	EYA1	2138	HP:0000405	Conductive hearing impairment
ORPHANET:52429	EYA1	2138	HP:0008572	External ear malformation
ORPHANET:52429	EYA1	2138	HP:0010628	Facial palsy
ORPHANET:52429	EYA1	2138	HP:0000347	Micrognathia
ORPHANET:52429	EYA1	2138	HP:0000324	Facial asymmetry
ORPHANET:52429	EYA1	2138	HP:0000632	Lacrimation abnormality
ORPHANET:52429	EYA1	2138	HP:0000175	Cleft palate
ORPHANET:52429	SIX1	6495	HP:0000407	Sensorineural hearing impairment
ORPHANET:52429	SIX1	6495	HP:0010767	Sacrococcygeal pilonidal abnormality
ORPHANET:52429	SIX1	6495	HP:0000413	Atresia of the external auditory canal
ORPHANET:52429	SIX1	6495	HP:0000384	Preauricular skin tag
ORPHANET:52429	SIX1	6495	HP:0000405	Conductive hearing impairment
ORPHANET:52429	SIX1	6495	HP:0008572	External ear malformation
ORPHANET:52429	SIX1	6495	HP:0010628	Facial palsy
ORPHANET:52429	SIX1	6495	HP:0000347	Micrognathia
ORPHANET:52429	SIX1	6495	HP:0000324	Facial asymmetry
ORPHANET:52429	SIX1	6495	HP:0000632	Lacrimation abnormality
ORPHANET:52429	SIX1	6495	HP:0000175	Cleft palate
ORPHANET:871	SCN1B	6324	HP:0011675	Arrhythmia
ORPHANET:871	NKX2-5	1482	HP:0011675	Arrhythmia
ORPHANET:871	SCN5A	6331	HP:0011675	Arrhythmia
ORPHANET:871	TRPM4	54795	HP:0011675	Arrhythmia
OMIM:613011	ITK	3702	HP:0003621	Juvenile onset
OMIM:613011	ITK	3702	HP:0001873	Thrombocytopenia
OMIM:613011	ITK	3702	HP:0000007	Autosomal recessive inheritance
OMIM:613011	ITK	3702	HP:0002716	Lymphadenopathy
OMIM:613011	ITK	3702	HP:0001876	Pancytopenia
OMIM:613011	ITK	3702	HP:0001903	Anemia
OMIM:613011	ITK	3702	HP:0011107	Recurrent aphthous stomatitis
OMIM:613011	ITK	3702	HP:0002240	Hepatomegaly
OMIM:613011	ITK	3702	HP:0002665	Lymphoma
OMIM:613011	ITK	3702	HP:0002960	Autoimmunity
OMIM:613011	ITK	3702	HP:0004315	IgG deficiency
OMIM:613011	ITK	3702	HP:0002719	Recurrent infections
OMIM:613011	ITK	3702	HP:0001744	Splenomegaly
OMIM:613011	CD27	939	HP:0003621	Juvenile onset
OMIM:613011	CD27	939	HP:0001873	Thrombocytopenia
OMIM:613011	CD27	939	HP:0000007	Autosomal recessive inheritance
OMIM:613011	CD27	939	HP:0002716	Lymphadenopathy
OMIM:613011	CD27	939	HP:0001876	Pancytopenia
OMIM:613011	CD27	939	HP:0001903	Anemia
OMIM:613011	CD27	939	HP:0011107	Recurrent aphthous stomatitis
OMIM:613011	CD27	939	HP:0002240	Hepatomegaly
OMIM:613011	CD27	939	HP:0002665	Lymphoma
OMIM:613011	CD27	939	HP:0002960	Autoimmunity
OMIM:613011	CD27	939	HP:0004315	IgG deficiency
OMIM:613011	CD27	939	HP:0002719	Recurrent infections
OMIM:613011	CD27	939	HP:0001744	Splenomegaly
ORPHANET:1956	SCN9A	6335	HP:0001872	Abnormality of thrombocytes
ORPHANET:1956	SCN9A	6335	HP:0001909	Leukemia
ORPHANET:1956	SCN9A	6335	HP:0002633	Vasculitis
ORPHANET:1956	SCN9A	6335	HP:0000989	Pruritus
ORPHANET:1956	SCN9A	6335	HP:0002205	Recurrent respiratory infections
ORPHANET:1956	SCN9A	6335	HP:0009830	Peripheral neuropathy
OMIM:611771	APOE	348	HP:0000083	Renal insufficiency
OMIM:611771	APOE	348	HP:0000093	Proteinuria
OMIM:609981	MCM4	4173	HP:0001744	Splenomegaly
OMIM:609981	MCM4	4173	HP:0002878	Respiratory failure
OMIM:609981	MCM4	4173	HP:0002205	Recurrent respiratory infections
OMIM:609981	MCM4	4173	HP:0004429	Recurrent viral infections
OMIM:609981	MCM4	4173	HP:0008897	Postnatal growth retardation
OMIM:609981	MCM4	4173	HP:0001511	Intrauterine growth retardation
OMIM:609981	MCM4	4173	HP:0002240	Hepatomegaly
OMIM:609981	MCM4	4173	HP:0002716	Lymphadenopathy
OMIM:609981	MCM4	4173	HP:0000007	Autosomal recessive inheritance
OMIM:609981	MCM4	4173	HP:0000846	Adrenal insufficiency
OMIM:609981	MCM4	4173	HP:0000252	Microcephaly
OMIM:613229	SLITRK1	114798	HP:0000006	Autosomal dominant inheritance
OMIM:613229	SLITRK1	114798	HP:0001426	Multifactorial inheritance
OMIM:613229	SLITRK1	114798	HP:0001596	Alopecia
OMIM:613229	SLITRK1	114798	HP:0000722	Obsessive-compulsive behavior
OMIM:613707	BRAF	673	HP:0001250	Seizures
OMIM:613707	BRAF	673	HP:0002212	Curly hair
OMIM:613707	BRAF	673	HP:0001633	Abnormality of the mitral valve
OMIM:613707	BRAF	673	HP:0001054	Numerous nevi
OMIM:613707	BRAF	673	HP:0001510	Growth delay
OMIM:613707	BRAF	673	HP:0000962	Hyperkeratosis
OMIM:613707	BRAF	673	HP:0000358	Posteriorly rotated ears
OMIM:613707	BRAF	673	HP:0000914	Shield chest
OMIM:613707	BRAF	673	HP:0004322	Short stature
OMIM:613707	BRAF	673	HP:0005280	Depressed nasal bridge
OMIM:613707	BRAF	673	HP:0000316	Hypertelorism
OMIM:613707	BRAF	673	HP:0000407	Sensorineural hearing impairment
OMIM:613707	BRAF	673	HP:0000465	Webbed neck
OMIM:613707	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:613707	BRAF	673	HP:0002750	Delayed skeletal maturation
OMIM:613707	BRAF	673	HP:0100543	Cognitive impairment
OMIM:613707	BRAF	673	HP:0001646	Abnormality of the aortic valve
OMIM:613707	BRAF	673	HP:0001249	Intellectual disability
OMIM:613707	BRAF	673	HP:0000470	Short neck
OMIM:613707	BRAF	673	HP:0007565	Multiple cafe-au-lait spots
OMIM:613707	BRAF	673	HP:0000369	Low-set ears
OMIM:613707	BRAF	673	HP:0001319	Neonatal hypotonia
OMIM:613707	BRAF	673	HP:0001636	Tetralogy of Fallot
OMIM:613707	PTPN11	5781	HP:0001250	Seizures
OMIM:613707	PTPN11	5781	HP:0002212	Curly hair
OMIM:613707	PTPN11	5781	HP:0001633	Abnormality of the mitral valve
OMIM:613707	PTPN11	5781	HP:0001054	Numerous nevi
OMIM:613707	PTPN11	5781	HP:0001510	Growth delay
OMIM:613707	PTPN11	5781	HP:0000962	Hyperkeratosis
OMIM:613707	PTPN11	5781	HP:0000358	Posteriorly rotated ears
OMIM:613707	PTPN11	5781	HP:0000914	Shield chest
OMIM:613707	PTPN11	5781	HP:0004322	Short stature
OMIM:613707	PTPN11	5781	HP:0005280	Depressed nasal bridge
OMIM:613707	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:613707	PTPN11	5781	HP:0000407	Sensorineural hearing impairment
OMIM:613707	PTPN11	5781	HP:0000465	Webbed neck
OMIM:613707	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:613707	PTPN11	5781	HP:0002750	Delayed skeletal maturation
OMIM:613707	PTPN11	5781	HP:0100543	Cognitive impairment
OMIM:613707	PTPN11	5781	HP:0001646	Abnormality of the aortic valve
OMIM:613707	PTPN11	5781	HP:0001249	Intellectual disability
OMIM:613707	PTPN11	5781	HP:0000470	Short neck
OMIM:613707	PTPN11	5781	HP:0007565	Multiple cafe-au-lait spots
OMIM:613707	PTPN11	5781	HP:0000369	Low-set ears
OMIM:613707	PTPN11	5781	HP:0001319	Neonatal hypotonia
OMIM:613707	PTPN11	5781	HP:0001636	Tetralogy of Fallot
OMIM:613707	RAF1	5894	HP:0001250	Seizures
OMIM:613707	RAF1	5894	HP:0002212	Curly hair
OMIM:613707	RAF1	5894	HP:0001633	Abnormality of the mitral valve
OMIM:613707	RAF1	5894	HP:0001054	Numerous nevi
OMIM:613707	RAF1	5894	HP:0001510	Growth delay
OMIM:613707	RAF1	5894	HP:0000962	Hyperkeratosis
OMIM:613707	RAF1	5894	HP:0000358	Posteriorly rotated ears
OMIM:613707	RAF1	5894	HP:0000914	Shield chest
OMIM:613707	RAF1	5894	HP:0004322	Short stature
OMIM:613707	RAF1	5894	HP:0005280	Depressed nasal bridge
OMIM:613707	RAF1	5894	HP:0000316	Hypertelorism
OMIM:613707	RAF1	5894	HP:0000407	Sensorineural hearing impairment
OMIM:613707	RAF1	5894	HP:0000465	Webbed neck
OMIM:613707	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:613707	RAF1	5894	HP:0002750	Delayed skeletal maturation
OMIM:613707	RAF1	5894	HP:0100543	Cognitive impairment
OMIM:613707	RAF1	5894	HP:0001646	Abnormality of the aortic valve
OMIM:613707	RAF1	5894	HP:0001249	Intellectual disability
OMIM:613707	RAF1	5894	HP:0000470	Short neck
OMIM:613707	RAF1	5894	HP:0007565	Multiple cafe-au-lait spots
OMIM:613707	RAF1	5894	HP:0000369	Low-set ears
OMIM:613707	RAF1	5894	HP:0001319	Neonatal hypotonia
OMIM:613707	RAF1	5894	HP:0001636	Tetralogy of Fallot
OMIM:612109	HMX1	3166	HP:0000639	Nystagmus
OMIM:612109	HMX1	3166	HP:0000647	Sclerocornea
OMIM:612109	HMX1	3166	HP:0000568	Microphthalmia
OMIM:612109	HMX1	3166	HP:0000007	Autosomal recessive inheritance
OMIM:612109	HMX1	3166	HP:0000589	Coloboma
OMIM:612109	HMX1	3166	HP:0000518	Cataract
OMIM:612109	HMX1	3166	HP:0000510	Rod-cone dystrophy
OMIM:612109	HMX1	3166	HP:0001104	Macular hypoplasia
OMIM:612109	HMX1	3166	HP:0000482	Microcornea
OMIM:615474	CACNA1D	776	HP:0000822	Hypertension
OMIM:615474	CACNA1D	776	HP:0100704	Cortical visual impairment
OMIM:615474	CACNA1D	776	HP:0000006	Autosomal dominant inheritance
OMIM:615474	CACNA1D	776	HP:0001629	Ventricular septal defect
OMIM:615474	CACNA1D	776	HP:0000787	Nephrolithiasis
OMIM:615474	CACNA1D	776	HP:0002069	Generalized tonic-clonic seizures
OMIM:615474	CACNA1D	776	HP:0001655	Patent foramen ovale
OMIM:615474	CACNA1D	776	HP:0001263	Global developmental delay
OMIM:615474	CACNA1D	776	HP:0002510	Spastic tetraplegia
OMIM:614414	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:614414	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:614414	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:614414	BSND	7809	HP:0000365	Hearing impairment
OMIM:614414	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:614414	ESPN	83715	HP:0000365	Hearing impairment
OMIM:614414	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:614414	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:614414	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:614414	OTOA	146183	HP:0000365	Hearing impairment
OMIM:614414	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:614414	GJA1	2697	HP:0000365	Hearing impairment
OMIM:614414	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:614414	MET	4233	HP:0000365	Hearing impairment
OMIM:614414	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:614414	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:614414	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:614414	HGF	3082	HP:0000365	Hearing impairment
OMIM:614414	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:614414	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:614414	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:614414	EPS8	2059	HP:0000365	Hearing impairment
OMIM:614414	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:614414	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:614414	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:614414	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:614414	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:614414	GJB2	2706	HP:0000365	Hearing impairment
OMIM:614414	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:614414	GJB3	2707	HP:0000365	Hearing impairment
OMIM:614414	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:614414	CABP2	51475	HP:0000365	Hearing impairment
OMIM:614414	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:614414	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:614414	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:614414	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:614414	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:614414	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:614414	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614414	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614414	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:614414	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:614414	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:614414	KARS	3735	HP:0000365	Hearing impairment
OMIM:614414	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:614414	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:614414	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:614414	TMC1	117531	HP:0000365	Hearing impairment
OMIM:614414	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:614414	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:614414	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:614414	OTOF	9381	HP:0000365	Hearing impairment
OMIM:614414	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614414	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614414	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:614414	TMIE	259236	HP:0000365	Hearing impairment
OMIM:614414	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:614414	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:614414	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:614414	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:614414	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:614414	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:614414	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:614414	TPRN	286262	HP:0000365	Hearing impairment
OMIM:614414	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:614414	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:614414	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:614414	GJB6	10804	HP:0000365	Hearing impairment
OMIM:614414	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:614414	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:614414	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:614414	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:614414	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:614414	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:614414	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:614414	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:614414	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614414	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614414	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:614414	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:614414	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:614414	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:614414	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:614414	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:614414	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:614414	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:614414	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:614414	CDH23	64072	HP:0000365	Hearing impairment
OMIM:614414	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:614414	RDX	5962	HP:0000365	Hearing impairment
OMIM:614414	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:614414	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:614414	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:614414	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:614414	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:614414	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:614414	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:614414	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:614414	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:614414	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:614414	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:614414	STRC	161497	HP:0000365	Hearing impairment
OMIM:614414	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614414	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:614414	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:614414	TECTA	7007	HP:0000365	Hearing impairment
OMIM:614414	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:614414	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:614414	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:614414	USH1C	10083	HP:0000365	Hearing impairment
OMIM:614414	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:614414	ADCY1	107	HP:0000365	Hearing impairment
OMIM:614414	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:614414	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:614414	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:614414	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:614414	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:614414	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:614414	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:614414	OTOG	340990	HP:0000365	Hearing impairment
OMIM:615887	SLC24A4	123041	HP:0000670	Carious teeth
OMIM:615887	MMP20	9313	HP:0000670	Carious teeth
OMIM:615887	C4ORF26	152816	HP:0000670	Carious teeth
OMIM:615887	KLK4	9622	HP:0000670	Carious teeth
OMIM:615887	AMELX	265	HP:0000670	Carious teeth
OMIM:615887	WDR72	256764	HP:0000670	Carious teeth
OMIM:616007	IARS2	55699	HP:0001371	Flexion contracture
OMIM:616007	IARS2	55699	HP:0000938	Osteopenia
OMIM:616007	IARS2	55699	HP:0002936	Distal sensory impairment
OMIM:616007	IARS2	55699	HP:0000343	Long philtrum
OMIM:616007	IARS2	55699	HP:0001265	Hyporeflexia
OMIM:616007	IARS2	55699	HP:0001374	Congenital hip dislocation
OMIM:616007	IARS2	55699	HP:0005280	Depressed nasal bridge
OMIM:616007	IARS2	55699	HP:0000407	Sensorineural hearing impairment
OMIM:616007	IARS2	55699	HP:0002650	Scoliosis
OMIM:616007	IARS2	55699	HP:0004322	Short stature
OMIM:616007	IARS2	55699	HP:0007141	Sensorimotor neuropathy
OMIM:616007	IARS2	55699	HP:0000824	Growth hormone deficiency
OMIM:616007	IARS2	55699	HP:0003416	Spinal canal stenosis
OMIM:616007	IARS2	55699	HP:0000518	Cataract
OMIM:616007	IARS2	55699	HP:0000639	Nystagmus
OMIM:616007	IARS2	55699	HP:0001270	Motor delay
OMIM:235370	EPB41	2035	HP:0000007	Autosomal recessive inheritance
OMIM:235370	GYPC	2995	HP:0000007	Autosomal recessive inheritance
OMIM:235370	SPTA1	6708	HP:0000007	Autosomal recessive inheritance
OMIM:235370	SPTB	6710	HP:0000007	Autosomal recessive inheritance
OMIM:614753	NFIX	4784	HP:0000739	Anxiety
OMIM:614753	NFIX	4784	HP:0001548	Overgrowth
OMIM:614753	NFIX	4784	HP:0000275	Narrow face
OMIM:614753	NFIX	4784	HP:0001249	Intellectual disability
OMIM:614753	NFIX	4784	HP:0002650	Scoliosis
OMIM:614753	NFIX	4784	HP:0000276	Long face
OMIM:614753	NFIX	4784	HP:0000006	Autosomal dominant inheritance
OMIM:614753	NFIX	4784	HP:0005616	Accelerated skeletal maturation
OMIM:606593	LIG4	3981	HP:0000286	Epicanthus
OMIM:606593	LIG4	3981	HP:0005978	Type II diabetes mellitus
OMIM:606593	LIG4	3981	HP:0000347	Micrognathia
OMIM:606593	LIG4	3981	HP:0000992	Cutaneous photosensitivity
OMIM:606593	LIG4	3981	HP:0000431	Wide nasal bridge
OMIM:606593	LIG4	3981	HP:0003220	Abnormality of chromosome stability
OMIM:606593	LIG4	3981	HP:0000028	Cryptorchidism
OMIM:606593	LIG4	3981	HP:0002240	Hepatomegaly
OMIM:606593	LIG4	3981	HP:0002488	Acute leukemia
OMIM:606593	LIG4	3981	HP:0005105	Abnormal nasal morphology
OMIM:606593	LIG4	3981	HP:0000294	Low anterior hairline
OMIM:606593	LIG4	3981	HP:0001974	Leukocytosis
OMIM:606593	LIG4	3981	HP:0002024	Malabsorption
OMIM:606593	LIG4	3981	HP:0002716	Lymphadenopathy
OMIM:606593	LIG4	3981	HP:0004209	Clinodactyly of the 5th finger
OMIM:606593	LIG4	3981	HP:0000252	Microcephaly
OMIM:606593	LIG4	3981	HP:0002665	Lymphoma
OMIM:606593	LIG4	3981	HP:0100543	Cognitive impairment
OMIM:606593	LIG4	3981	HP:0100585	Telangiectasia of the skin
OMIM:606593	LIG4	3981	HP:0005528	Bone marrow hypocellularity
OMIM:606593	LIG4	3981	HP:0000582	Upslanted palpebral fissure
OMIM:606593	LIG4	3981	HP:0000821	Hypothyroidism
OMIM:606593	LIG4	3981	HP:0004430	Severe combined immunodeficiency
OMIM:606593	LIG4	3981	HP:0000233	Thin vermilion border
OMIM:606593	LIG4	3981	HP:0000506	Telecanthus
OMIM:606593	LIG4	3981	HP:0000341	Narrow forehead
OMIM:606593	LIG4	3981	HP:0008736	Hypoplasia of penis
OMIM:606593	LIG4	3981	HP:0002648	Abnormality of calvarial morphology
OMIM:122860	SOST	50964	HP:0004493	Craniofacial hyperostosis
OMIM:122860	SOST	50964	HP:0000316	Hypertelorism
OMIM:122860	SOST	50964	HP:0000452	Choanal stenosis
OMIM:122860	SOST	50964	HP:0000648	Optic atrophy
OMIM:122860	SOST	50964	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:122860	SOST	50964	HP:0005280	Depressed nasal bridge
OMIM:122860	SOST	50964	HP:0002315	Headache
OMIM:122860	SOST	50964	HP:0000365	Hearing impairment
OMIM:122860	SOST	50964	HP:0004322	Short stature
OMIM:122860	SOST	50964	HP:0003676	Progressive
OMIM:122860	SOST	50964	HP:0003593	Infantile onset
OMIM:122860	SOST	50964	HP:0011120	Concave nasal ridge
OMIM:122860	SOST	50964	HP:0000431	Wide nasal bridge
OMIM:122860	SOST	50964	HP:0000900	Thickened ribs
OMIM:122860	SOST	50964	HP:0000256	Macrocephaly
OMIM:122860	SOST	50964	HP:0000006	Autosomal dominant inheritance
OMIM:122860	SOST	50964	HP:0000529	Progressive visual loss
OMIM:225320	COL1A2	1278	HP:0000977	Soft skin
OMIM:225320	COL1A2	1278	HP:0000978	Bruising susceptibility
OMIM:225320	COL1A2	1278	HP:0002816	Genu recurvatum
OMIM:225320	COL1A2	1278	HP:0001388	Joint laxity
OMIM:225320	COL1A2	1278	HP:0001653	Mitral regurgitation
OMIM:225320	COL1A2	1278	HP:0000023	Inguinal hernia
OMIM:225320	COL1A2	1278	HP:0000767	Pectus excavatum
OMIM:225320	COL1A2	1278	HP:0001659	Aortic regurgitation
OMIM:225320	COL1A2	1278	HP:0001634	Mitral valve prolapse
OMIM:225320	COL1A2	1278	HP:0001763	Pes planus
OMIM:225320	COL1A2	1278	HP:0000963	Thin skin
OMIM:225320	COL1A2	1278	HP:0001075	Atrophic scars
OMIM:225320	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:225320	COL1A2	1278	HP:0000974	Hyperextensible skin
OMIM:300534	KDM5C	8242	HP:0000426	Prominent nasal bridge
OMIM:300534	KDM5C	8242	HP:0000347	Micrognathia
OMIM:300534	KDM5C	8242	HP:0000545	Myopia
OMIM:300534	KDM5C	8242	HP:0000218	High palate
OMIM:300534	KDM5C	8242	HP:0001182	Tapered finger
OMIM:300534	KDM5C	8242	HP:0001156	Brachydactyly syndrome
OMIM:300534	KDM5C	8242	HP:0000327	Hypoplasia of the maxilla
OMIM:300534	KDM5C	8242	HP:0003487	Babinski sign
OMIM:300534	KDM5C	8242	HP:0001276	Hypertonia
OMIM:300534	KDM5C	8242	HP:0000486	Strabismus
OMIM:300534	KDM5C	8242	HP:0000174	Abnormality of the palate
OMIM:300534	KDM5C	8242	HP:0009882	Short distal phalanx of finger
OMIM:300534	KDM5C	8242	HP:0100490	Camptodactyly of finger
OMIM:300534	KDM5C	8242	HP:0000256	Macrocephaly
OMIM:300534	KDM5C	8242	HP:0008944	Distal lower limb amyotrophy
OMIM:300534	KDM5C	8242	HP:0000718	Aggressive behavior
OMIM:300534	KDM5C	8242	HP:0000035	Abnormality of the testis
OMIM:300534	KDM5C	8242	HP:0000319	Smooth philtrum
OMIM:300534	KDM5C	8242	HP:0000582	Upslanted palpebral fissure
OMIM:300534	KDM5C	8242	HP:0001176	Large hands
OMIM:300534	KDM5C	8242	HP:0004322	Short stature
OMIM:300534	KDM5C	8242	HP:0001419	X-linked recessive inheritance
OMIM:300534	KDM5C	8242	HP:0000303	Mandibular prognathia
OMIM:300534	KDM5C	8242	HP:0001773	Short foot
OMIM:300534	KDM5C	8242	HP:0001347	Hyperreflexia
OMIM:300534	KDM5C	8242	HP:0000490	Deeply set eye
OMIM:300534	KDM5C	8242	HP:0001250	Seizures
OMIM:300534	KDM5C	8242	HP:0001762	Talipes equinovarus
OMIM:300534	KDM5C	8242	HP:0008734	Decreased testicular size
OMIM:300534	KDM5C	8242	HP:0004097	Deviation of finger
OMIM:300534	KDM5C	8242	HP:0000219	Thin upper lip vermilion
OMIM:300534	KDM5C	8242	HP:0000377	Abnormality of the pinna
OMIM:300534	KDM5C	8242	HP:0000028	Cryptorchidism
OMIM:300534	KDM5C	8242	HP:0000767	Pectus excavatum
OMIM:300534	KDM5C	8242	HP:0000252	Microcephaly
OMIM:300534	KDM5C	8242	HP:0000711	Restlessness
OMIM:300534	KDM5C	8242	HP:0000400	Macrotia
OMIM:300534	KDM5C	8242	HP:0000717	Autism
OMIM:300534	KDM5C	8242	HP:0000054	Micropenis
OMIM:300534	KDM5C	8242	HP:0000540	Hypermetropia
OMIM:300534	KDM5C	8242	HP:0100543	Cognitive impairment
OMIM:300534	KDM5C	8242	HP:0002167	Neurological speech impairment
OMIM:300534	KDM5C	8242	HP:0001883	Talipes
OMIM:300534	KDM5C	8242	HP:0010864	Intellectual disability, severe
OMIM:300534	KDM5C	8242	HP:0000957	Cafe-au-lait spot
OMIM:300534	KDM5C	8242	HP:0006887	Intellectual disability, progressive
OMIM:602099	SPG11	80208	HP:0001260	Dysarthria
OMIM:602099	SPG11	80208	HP:0002460	Distal muscle weakness
OMIM:602099	SPG11	80208	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:602099	SPG11	80208	HP:0002380	Fasciculations
OMIM:602099	SPG11	80208	HP:0002366	Abnormal lower motor neuron morphology
OMIM:602099	SPG11	80208	HP:0007354	Amyotrophic lateral sclerosis
OMIM:602099	SPG11	80208	HP:0001347	Hyperreflexia
OMIM:602099	SPG11	80208	HP:0003693	Distal amyotrophy
OMIM:602099	SPG11	80208	HP:0000007	Autosomal recessive inheritance
OMIM:602099	SPG11	80208	HP:0001257	Spasticity
OMIM:602099	SPG11	80208	HP:0002483	Bulbar signs
OMIM:602099	SPG11	80208	HP:0003677	Slow progression
OMIM:602099	SPG11	80208	HP:0003487	Babinski sign
OMIM:602099	SPG11	80208	HP:0003621	Juvenile onset
OMIM:602099	SIGMAR1	10280	HP:0001260	Dysarthria
OMIM:602099	SIGMAR1	10280	HP:0002460	Distal muscle weakness
OMIM:602099	SIGMAR1	10280	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:602099	SIGMAR1	10280	HP:0002380	Fasciculations
OMIM:602099	SIGMAR1	10280	HP:0002366	Abnormal lower motor neuron morphology
OMIM:602099	SIGMAR1	10280	HP:0007354	Amyotrophic lateral sclerosis
OMIM:602099	SIGMAR1	10280	HP:0001347	Hyperreflexia
OMIM:602099	SIGMAR1	10280	HP:0003693	Distal amyotrophy
OMIM:602099	SIGMAR1	10280	HP:0000007	Autosomal recessive inheritance
OMIM:602099	SIGMAR1	10280	HP:0001257	Spasticity
OMIM:602099	SIGMAR1	10280	HP:0002483	Bulbar signs
OMIM:602099	SIGMAR1	10280	HP:0003677	Slow progression
OMIM:602099	SIGMAR1	10280	HP:0003487	Babinski sign
OMIM:602099	SIGMAR1	10280	HP:0003621	Juvenile onset
OMIM:602099	FUS	2521	HP:0001260	Dysarthria
OMIM:602099	FUS	2521	HP:0002460	Distal muscle weakness
OMIM:602099	FUS	2521	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:602099	FUS	2521	HP:0002380	Fasciculations
OMIM:602099	FUS	2521	HP:0002366	Abnormal lower motor neuron morphology
OMIM:602099	FUS	2521	HP:0007354	Amyotrophic lateral sclerosis
OMIM:602099	FUS	2521	HP:0001347	Hyperreflexia
OMIM:602099	FUS	2521	HP:0003693	Distal amyotrophy
OMIM:602099	FUS	2521	HP:0000007	Autosomal recessive inheritance
OMIM:602099	FUS	2521	HP:0001257	Spasticity
OMIM:602099	FUS	2521	HP:0002483	Bulbar signs
OMIM:602099	FUS	2521	HP:0003677	Slow progression
OMIM:602099	FUS	2521	HP:0003487	Babinski sign
OMIM:602099	FUS	2521	HP:0003621	Juvenile onset
OMIM:602099	ALS2	57679	HP:0001260	Dysarthria
OMIM:602099	ALS2	57679	HP:0002460	Distal muscle weakness
OMIM:602099	ALS2	57679	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:602099	ALS2	57679	HP:0002380	Fasciculations
OMIM:602099	ALS2	57679	HP:0002366	Abnormal lower motor neuron morphology
OMIM:602099	ALS2	57679	HP:0007354	Amyotrophic lateral sclerosis
OMIM:602099	ALS2	57679	HP:0001347	Hyperreflexia
OMIM:602099	ALS2	57679	HP:0003693	Distal amyotrophy
OMIM:602099	ALS2	57679	HP:0000007	Autosomal recessive inheritance
OMIM:602099	ALS2	57679	HP:0001257	Spasticity
OMIM:602099	ALS2	57679	HP:0002483	Bulbar signs
OMIM:602099	ALS2	57679	HP:0003677	Slow progression
OMIM:602099	ALS2	57679	HP:0003487	Babinski sign
OMIM:602099	ALS2	57679	HP:0003621	Juvenile onset
OMIM:236490	ANTXR2	118429	HP:0000212	Gingival overgrowth
OMIM:236490	ANTXR2	118429	HP:0004349	Reduced bone mineral density
OMIM:236490	ANTXR2	118429	HP:0100490	Camptodactyly of finger
OMIM:236490	ANTXR2	118429	HP:0000147	Polycystic ovaries
OMIM:236490	ANTXR2	118429	HP:0001156	Brachydactyly syndrome
OMIM:236490	ANTXR2	118429	HP:0002757	Recurrent fractures
OMIM:236490	ANTXR2	118429	HP:0001072	Thickened skin
OMIM:236490	ANTXR2	118429	HP:0001252	Muscular hypotonia
OMIM:236490	ANTXR2	118429	HP:0010978	Abnormality of immune system physiology
OMIM:236490	ANTXR2	118429	HP:0004322	Short stature
OMIM:236490	ANTXR2	118429	HP:0001004	Lymphedema
OMIM:236490	ANTXR2	118429	HP:0100585	Telangiectasia of the skin
OMIM:236490	ANTXR2	118429	HP:0200042	Skin ulcer
OMIM:236490	ANTXR2	118429	HP:0002024	Malabsorption
OMIM:236490	ANTXR2	118429	HP:0001025	Urticaria
OMIM:236490	ANTXR2	118429	HP:0007400	Irregular hyperpigmentation
OMIM:236490	ANTXR2	118429	HP:0000834	Abnormality of the adrenal glands
OMIM:236490	ANTXR2	118429	HP:0001376	Limitation of joint mobility
OMIM:236490	ANTXR2	118429	HP:0000256	Macrocephaly
OMIM:236490	ANTXR2	118429	HP:0000470	Short neck
OMIM:236490	ANTXR2	118429	HP:0002983	Micromelia
OMIM:236490	ANTXR2	118429	HP:0006482	Abnormality of dental morphology
OMIM:236490	ANTXR2	118429	HP:0010515	Aplasia/Hypoplasia of the thymus
OMIM:236490	ANTXR2	118429	HP:0000280	Coarse facial features
OMIM:308940	COL4A5	1287	HP:0002015	Dysphagia
OMIM:308940	COL4A5	1287	HP:0003774	Stage 5 chronic kidney disease
OMIM:308940	COL4A5	1287	HP:0000112	Nephropathy
OMIM:308940	COL4A5	1287	HP:0000518	Cataract
OMIM:308940	COL4A5	1287	HP:0000790	Hematuria
OMIM:308940	COL4A5	1287	HP:0001417	X-linked inheritance
OMIM:308940	COL4A5	1287	HP:0001508	Failure to thrive
OMIM:308940	COL4A5	1287	HP:0002094	Dyspnea
OMIM:308940	COL4A5	1287	HP:0002019	Constipation
OMIM:308940	COL4A5	1287	HP:0000093	Proteinuria
OMIM:308940	COL4A5	1287	HP:0002013	Vomiting
OMIM:308940	COL4A6	1288	HP:0002015	Dysphagia
OMIM:308940	COL4A6	1288	HP:0003774	Stage 5 chronic kidney disease
OMIM:308940	COL4A6	1288	HP:0000112	Nephropathy
OMIM:308940	COL4A6	1288	HP:0000518	Cataract
OMIM:308940	COL4A6	1288	HP:0000790	Hematuria
OMIM:308940	COL4A6	1288	HP:0001417	X-linked inheritance
OMIM:308940	COL4A6	1288	HP:0001508	Failure to thrive
OMIM:308940	COL4A6	1288	HP:0002094	Dyspnea
OMIM:308940	COL4A6	1288	HP:0002019	Constipation
OMIM:308940	COL4A6	1288	HP:0000093	Proteinuria
OMIM:308940	COL4A6	1288	HP:0002013	Vomiting
OMIM:155950	LEMD3	23592	HP:0002653	Bone pain
OMIM:155950	LEMD3	23592	HP:0001004	Lymphedema
OMIM:155950	LEMD3	23592	HP:0001369	Arthritis
OMIM:155950	LEMD3	23592	HP:0001376	Limitation of joint mobility
OMIM:155950	LEMD3	23592	HP:0000934	Chondrocalcinosis
OMIM:155950	LEMD3	23592	HP:0011001	Increased bone mineral density
OMIM:155950	LEMD3	23592	HP:0000987	Atypical scarring of skin
OMIM:155950	LEMD3	23592	HP:0003202	Skeletal muscle atrophy
OMIM:155950	LEMD3	23592	HP:0006824	Cranial nerve paralysis
OMIM:155950	LEMD3	23592	HP:0002829	Arthralgia
OMIM:155950	LEMD3	23592	HP:0002652	Skeletal dysplasia
OMIM:155950	LEMD3	23592	HP:0001072	Thickened skin
OMIM:155950	LEMD3	23592	HP:0003676	Progressive
OMIM:155950	LEMD3	23592	HP:0100774	Hyperostosis
OMIM:122600	TBX6	6911	HP:0002948	Vertebral fusion
OMIM:122600	TBX6	6911	HP:0001511	Intrauterine growth retardation
OMIM:122600	TBX6	6911	HP:0002205	Recurrent respiratory infections
OMIM:122600	TBX6	6911	HP:0002937	Hemivertebrae
OMIM:122600	TBX6	6911	HP:0000252	Microcephaly
OMIM:122600	TBX6	6911	HP:0000431	Wide nasal bridge
OMIM:122600	TBX6	6911	HP:0002650	Scoliosis
OMIM:122600	TBX6	6911	HP:0003422	Vertebral segmentation defect
OMIM:122600	TBX6	6911	HP:0000175	Cleft palate
OMIM:122600	TBX6	6911	HP:0004322	Short stature
OMIM:122600	TBX6	6911	HP:0000006	Autosomal dominant inheritance
OMIM:122600	TBX6	6911	HP:0003298	Spina bifida occulta
OMIM:122600	TBX6	6911	HP:0005107	Abnormality of the sacrum
OMIM:122600	TBX6	6911	HP:0000008	Abnormality of female internal genitalia
OMIM:122600	TBX6	6911	HP:0000256	Macrocephaly
OMIM:122600	TBX6	6911	HP:0000463	Anteverted nares
OMIM:122600	TBX6	6911	HP:0000269	Prominent occiput
OMIM:122600	TBX6	6911	HP:0003521	Disproportionate short-trunk short stature
OMIM:122600	TBX6	6911	HP:0000582	Upslanted palpebral fissure
OMIM:122600	TBX6	6911	HP:0010306	Short thorax
OMIM:122600	TBX6	6911	HP:0000470	Short neck
OMIM:122600	TBX6	6911	HP:0003307	Hyperlordosis
OMIM:122600	TBX6	6911	HP:0003510	Severe short stature
OMIM:613308	TSR2	90121	HP:0001903	Anemia
OMIM:613308	RPS17	6218	HP:0001903	Anemia
OMIM:613308	RPL26	6154	HP:0001903	Anemia
OMIM:613308	RPL5	6125	HP:0001903	Anemia
OMIM:613308	RPS19	6223	HP:0001903	Anemia
OMIM:613308	RPS24	6229	HP:0001903	Anemia
OMIM:613308	RPL35A	6165	HP:0001903	Anemia
OMIM:613308	RPL11	6135	HP:0001903	Anemia
OMIM:613308	RPS26	6231	HP:0001903	Anemia
OMIM:613308	RPS7	6201	HP:0001903	Anemia
OMIM:613308	RPL15	6138	HP:0001903	Anemia
OMIM:613308	RPS28	6234	HP:0001903	Anemia
OMIM:613308	RPS29	6235	HP:0001903	Anemia
OMIM:613308	RPS10	6204	HP:0001903	Anemia
OMIM:613308	GATA1	2623	HP:0001903	Anemia
OMIM:313350	BTRC	8945	HP:0001417	X-linked inheritance
OMIM:313350	BTRC	8945	HP:0006101	Finger syndactyly
OMIM:313350	BTRC	8945	HP:0010049	Short metacarpal
OMIM:313350	BTRC	8945	HP:0009803	Short phalanx of finger
OMIM:313350	BTRC	8945	HP:0001171	Split hand
OMIM:313350	TP63	8626	HP:0001417	X-linked inheritance
OMIM:313350	TP63	8626	HP:0006101	Finger syndactyly
OMIM:313350	TP63	8626	HP:0010049	Short metacarpal
OMIM:313350	TP63	8626	HP:0009803	Short phalanx of finger
OMIM:313350	TP63	8626	HP:0001171	Split hand
OMIM:313350	FBXW4	6468	HP:0001417	X-linked inheritance
OMIM:313350	FBXW4	6468	HP:0006101	Finger syndactyly
OMIM:313350	FBXW4	6468	HP:0010049	Short metacarpal
OMIM:313350	FBXW4	6468	HP:0009803	Short phalanx of finger
OMIM:313350	FBXW4	6468	HP:0001171	Split hand
OMIM:313350	DLX5	1749	HP:0001417	X-linked inheritance
OMIM:313350	DLX5	1749	HP:0006101	Finger syndactyly
OMIM:313350	DLX5	1749	HP:0010049	Short metacarpal
OMIM:313350	DLX5	1749	HP:0009803	Short phalanx of finger
OMIM:313350	DLX5	1749	HP:0001171	Split hand
OMIM:313350	WNT10B	7480	HP:0001417	X-linked inheritance
OMIM:313350	WNT10B	7480	HP:0006101	Finger syndactyly
OMIM:313350	WNT10B	7480	HP:0010049	Short metacarpal
OMIM:313350	WNT10B	7480	HP:0009803	Short phalanx of finger
OMIM:313350	WNT10B	7480	HP:0001171	Split hand
OMIM:313350	SHFM1	7979	HP:0001417	X-linked inheritance
OMIM:313350	SHFM1	7979	HP:0006101	Finger syndactyly
OMIM:313350	SHFM1	7979	HP:0010049	Short metacarpal
OMIM:313350	SHFM1	7979	HP:0009803	Short phalanx of finger
OMIM:313350	SHFM1	7979	HP:0001171	Split hand
OMIM:179850	POFUT1	23509	HP:0000006	Autosomal dominant inheritance
OMIM:179850	POGLUT1	56983	HP:0000006	Autosomal dominant inheritance
OMIM:179850	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:613670	FOXP1	27086	HP:0000750	Delayed speech and language development
OMIM:613670	FOXP1	27086	HP:0000006	Autosomal dominant inheritance
OMIM:613670	FOXP1	27086	HP:0002194	Delayed gross motor development
OMIM:613670	FOXP1	27086	HP:0003196	Short nose
OMIM:613670	FOXP1	27086	HP:0011220	Prominent forehead
OMIM:613670	FOXP1	27086	HP:0000494	Downslanted palpebral fissures
OMIM:613670	FOXP1	27086	HP:0001513	Obesity
OMIM:613670	FOXP1	27086	HP:0001249	Intellectual disability
OMIM:613670	FOXP1	27086	HP:0000752	Hyperactivity
OMIM:613670	FOXP1	27086	HP:0000733	Stereotypic behavior
OMIM:613670	FOXP1	27086	HP:0000455	Broad nasal tip
OMIM:613670	FOXP1	27086	HP:0000718	Aggressive behavior
OMIM:613670	FOXP1	27086	HP:0000194	Open mouth
OMIM:613670	FOXP1	27086	HP:0000256	Macrocephaly
OMIM:226730	ITGA6	3655	HP:0001561	Polyhydramnios
OMIM:226730	ITGA6	3655	HP:0000492	Abnormality of the eyelid
OMIM:226730	ITGA6	3655	HP:0002021	Pyloric stenosis
OMIM:226730	ITGA6	3655	HP:0001030	Fragile skin
OMIM:226730	ITGA6	3655	HP:0001522	Death in infancy
OMIM:226730	ITGA6	3655	HP:0003577	Congenital onset
OMIM:226730	ITGA6	3655	HP:0001057	Aplasia cutis congenita
OMIM:226730	ITGA6	3655	HP:0000119	Abnormality of the genitourinary system
OMIM:226730	ITGA6	3655	HP:0008404	Nail dystrophy
OMIM:226730	ITGA6	3655	HP:0002041	Intractable diarrhea
OMIM:226730	ITGA6	3655	HP:0002164	Nail dysplasia
OMIM:226730	ITGA6	3655	HP:0002032	Esophageal atresia
OMIM:226730	ITGA6	3655	HP:0000007	Autosomal recessive inheritance
OMIM:226730	ITGA6	3655	HP:0100867	Duodenal stenosis
OMIM:226730	ITGA6	3655	HP:0200042	Skin ulcer
OMIM:226730	ITGA6	3655	HP:0001075	Atrophic scars
OMIM:226730	ITGA6	3655	HP:0001798	Anonychia
OMIM:226730	ITGA6	3655	HP:0002804	Arthrogryposis multiplex congenita
OMIM:226730	ITGA6	3655	HP:0006297	Hypoplasia of dental enamel
OMIM:226730	ITGB4	3691	HP:0001561	Polyhydramnios
OMIM:226730	ITGB4	3691	HP:0000492	Abnormality of the eyelid
OMIM:226730	ITGB4	3691	HP:0002021	Pyloric stenosis
OMIM:226730	ITGB4	3691	HP:0001030	Fragile skin
OMIM:226730	ITGB4	3691	HP:0001522	Death in infancy
OMIM:226730	ITGB4	3691	HP:0003577	Congenital onset
OMIM:226730	ITGB4	3691	HP:0001057	Aplasia cutis congenita
OMIM:226730	ITGB4	3691	HP:0000119	Abnormality of the genitourinary system
OMIM:226730	ITGB4	3691	HP:0008404	Nail dystrophy
OMIM:226730	ITGB4	3691	HP:0002041	Intractable diarrhea
OMIM:226730	ITGB4	3691	HP:0002164	Nail dysplasia
OMIM:226730	ITGB4	3691	HP:0002032	Esophageal atresia
OMIM:226730	ITGB4	3691	HP:0000007	Autosomal recessive inheritance
OMIM:226730	ITGB4	3691	HP:0100867	Duodenal stenosis
OMIM:226730	ITGB4	3691	HP:0200042	Skin ulcer
OMIM:226730	ITGB4	3691	HP:0001075	Atrophic scars
OMIM:226730	ITGB4	3691	HP:0001798	Anonychia
OMIM:226730	ITGB4	3691	HP:0002804	Arthrogryposis multiplex congenita
OMIM:226730	ITGB4	3691	HP:0006297	Hypoplasia of dental enamel
OMIM:614131	MYO1E	4643	HP:0000100	Nephrotic syndrome
OMIM:614131	MYO1E	4643	HP:0000790	Hematuria
OMIM:614131	MYO1E	4643	HP:0000093	Proteinuria
OMIM:614131	MYO1E	4643	HP:0003676	Progressive
OMIM:614131	MYO1E	4643	HP:0012622	Chronic kidney disease
OMIM:614131	MYO1E	4643	HP:0000007	Autosomal recessive inheritance
OMIM:614131	MYO1E	4643	HP:0000097	Focal segmental glomerulosclerosis
OMIM:614131	MYO1E	4643	HP:0000969	Edema
OMIM:614131	MYO1E	4643	HP:0003073	Hypoalbuminemia
OMIM:613960	CYBB	1536	HP:0011127	Perioral eczema
OMIM:613960	CYBB	1536	HP:0011108	Recurrent sinusitis
OMIM:613960	CYBB	1536	HP:0011107	Recurrent aphthous stomatitis
OMIM:613960	CYBB	1536	HP:0002014	Diarrhea
OMIM:613960	CYBB	1536	HP:0000007	Autosomal recessive inheritance
OMIM:613960	NCF2	4688	HP:0011127	Perioral eczema
OMIM:613960	NCF2	4688	HP:0011108	Recurrent sinusitis
OMIM:613960	NCF2	4688	HP:0011107	Recurrent aphthous stomatitis
OMIM:613960	NCF2	4688	HP:0002014	Diarrhea
OMIM:613960	NCF2	4688	HP:0000007	Autosomal recessive inheritance
OMIM:613960	NCF4	4689	HP:0011127	Perioral eczema
OMIM:613960	NCF4	4689	HP:0011108	Recurrent sinusitis
OMIM:613960	NCF4	4689	HP:0011107	Recurrent aphthous stomatitis
OMIM:613960	NCF4	4689	HP:0002014	Diarrhea
OMIM:613960	NCF4	4689	HP:0000007	Autosomal recessive inheritance
OMIM:613960	NCF1	653361	HP:0011127	Perioral eczema
OMIM:613960	NCF1	653361	HP:0011108	Recurrent sinusitis
OMIM:613960	NCF1	653361	HP:0011107	Recurrent aphthous stomatitis
OMIM:613960	NCF1	653361	HP:0002014	Diarrhea
OMIM:613960	NCF1	653361	HP:0000007	Autosomal recessive inheritance
OMIM:613960	CYBA	1535	HP:0011127	Perioral eczema
OMIM:613960	CYBA	1535	HP:0011108	Recurrent sinusitis
OMIM:613960	CYBA	1535	HP:0011107	Recurrent aphthous stomatitis
OMIM:613960	CYBA	1535	HP:0002014	Diarrhea
OMIM:613960	CYBA	1535	HP:0000007	Autosomal recessive inheritance
OMIM:204750	DHTKD1	55526	HP:0000252	Microcephaly
OMIM:204750	DHTKD1	55526	HP:0001256	Intellectual disability, mild
OMIM:204750	DHTKD1	55526	HP:0007018	Attention deficit hyperactivity disorder
OMIM:204750	DHTKD1	55526	HP:0001252	Muscular hypotonia
OMIM:204750	DHTKD1	55526	HP:0001263	Global developmental delay
OMIM:204750	DHTKD1	55526	HP:0000750	Delayed speech and language development
OMIM:204750	DHTKD1	55526	HP:0003355	Aminoaciduria
OMIM:204750	DHTKD1	55526	HP:0000007	Autosomal recessive inheritance
OMIM:615214	BLNK	29760	HP:0002205	Recurrent respiratory infections
OMIM:615214	BLNK	29760	HP:0000007	Autosomal recessive inheritance
OMIM:615214	BLNK	29760	HP:0004432	Agammaglobulinemia
OMIM:615214	BLNK	29760	HP:0001875	Neutropenia
OMIM:615214	BLNK	29760	HP:0003593	Infantile onset
OMIM:615214	TCF3	6929	HP:0002205	Recurrent respiratory infections
OMIM:615214	TCF3	6929	HP:0000007	Autosomal recessive inheritance
OMIM:615214	TCF3	6929	HP:0004432	Agammaglobulinemia
OMIM:615214	TCF3	6929	HP:0001875	Neutropenia
OMIM:615214	TCF3	6929	HP:0003593	Infantile onset
OMIM:615214	IGHM	3507	HP:0002205	Recurrent respiratory infections
OMIM:615214	IGHM	3507	HP:0000007	Autosomal recessive inheritance
OMIM:615214	IGHM	3507	HP:0004432	Agammaglobulinemia
OMIM:615214	IGHM	3507	HP:0001875	Neutropenia
OMIM:615214	IGHM	3507	HP:0003593	Infantile onset
OMIM:615214	LRRC8A	56262	HP:0002205	Recurrent respiratory infections
OMIM:615214	LRRC8A	56262	HP:0000007	Autosomal recessive inheritance
OMIM:615214	LRRC8A	56262	HP:0004432	Agammaglobulinemia
OMIM:615214	LRRC8A	56262	HP:0001875	Neutropenia
OMIM:615214	LRRC8A	56262	HP:0003593	Infantile onset
OMIM:615214	IGLL1	3543	HP:0002205	Recurrent respiratory infections
OMIM:615214	IGLL1	3543	HP:0000007	Autosomal recessive inheritance
OMIM:615214	IGLL1	3543	HP:0004432	Agammaglobulinemia
OMIM:615214	IGLL1	3543	HP:0001875	Neutropenia
OMIM:615214	IGLL1	3543	HP:0003593	Infantile onset
OMIM:615214	CD79A	973	HP:0002205	Recurrent respiratory infections
OMIM:615214	CD79A	973	HP:0000007	Autosomal recessive inheritance
OMIM:615214	CD79A	973	HP:0004432	Agammaglobulinemia
OMIM:615214	CD79A	973	HP:0001875	Neutropenia
OMIM:615214	CD79A	973	HP:0003593	Infantile onset
OMIM:615214	CD79B	974	HP:0002205	Recurrent respiratory infections
OMIM:615214	CD79B	974	HP:0000007	Autosomal recessive inheritance
OMIM:615214	CD79B	974	HP:0004432	Agammaglobulinemia
OMIM:615214	CD79B	974	HP:0001875	Neutropenia
OMIM:615214	CD79B	974	HP:0003593	Infantile onset
OMIM:615214	PIK3R1	5295	HP:0002205	Recurrent respiratory infections
OMIM:615214	PIK3R1	5295	HP:0000007	Autosomal recessive inheritance
OMIM:615214	PIK3R1	5295	HP:0004432	Agammaglobulinemia
OMIM:615214	PIK3R1	5295	HP:0001875	Neutropenia
OMIM:615214	PIK3R1	5295	HP:0003593	Infantile onset
ORPHANET:895	SOX10	6663	HP:0001053	Hypopigmented skin patches
ORPHANET:895	SOX10	6663	HP:0001100	Heterochromia iridis
ORPHANET:895	SOX10	6663	HP:0000508	Ptosis
ORPHANET:895	SOX10	6663	HP:0000506	Telecanthus
ORPHANET:895	SOX10	6663	HP:0002216	Premature graying of hair
ORPHANET:895	SOX10	6663	HP:0002251	Aganglionic megacolon
ORPHANET:895	SOX10	6663	HP:0000077	Abnormality of the kidney
ORPHANET:895	SOX10	6663	HP:0000407	Sensorineural hearing impairment
ORPHANET:895	SOX10	6663	HP:0002211	White forelock
ORPHANET:895	SOX10	6663	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:895	MITF	4286	HP:0001053	Hypopigmented skin patches
ORPHANET:895	MITF	4286	HP:0001100	Heterochromia iridis
ORPHANET:895	MITF	4286	HP:0000508	Ptosis
ORPHANET:895	MITF	4286	HP:0000506	Telecanthus
ORPHANET:895	MITF	4286	HP:0002216	Premature graying of hair
ORPHANET:895	MITF	4286	HP:0002251	Aganglionic megacolon
ORPHANET:895	MITF	4286	HP:0000077	Abnormality of the kidney
ORPHANET:895	MITF	4286	HP:0000407	Sensorineural hearing impairment
ORPHANET:895	MITF	4286	HP:0002211	White forelock
ORPHANET:895	MITF	4286	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:895	SNAI2	6591	HP:0001053	Hypopigmented skin patches
ORPHANET:895	SNAI2	6591	HP:0001100	Heterochromia iridis
ORPHANET:895	SNAI2	6591	HP:0000508	Ptosis
ORPHANET:895	SNAI2	6591	HP:0000506	Telecanthus
ORPHANET:895	SNAI2	6591	HP:0002216	Premature graying of hair
ORPHANET:895	SNAI2	6591	HP:0002251	Aganglionic megacolon
ORPHANET:895	SNAI2	6591	HP:0000077	Abnormality of the kidney
ORPHANET:895	SNAI2	6591	HP:0000407	Sensorineural hearing impairment
ORPHANET:895	SNAI2	6591	HP:0002211	White forelock
ORPHANET:895	SNAI2	6591	HP:0004414	Abnormality of the pulmonary artery
OMIM:614470	KRAS	3845	HP:0002665	Lymphoma
OMIM:614470	KRAS	3845	HP:0010702	Increased antibody level in blood
OMIM:614470	KRAS	3845	HP:0001876	Pancytopenia
OMIM:614470	KRAS	3845	HP:0002240	Hepatomegaly
OMIM:614470	KRAS	3845	HP:0001878	Hemolytic anemia
OMIM:614470	KRAS	3845	HP:0001744	Splenomegaly
OMIM:614470	KRAS	3845	HP:0001909	Leukemia
OMIM:614470	KRAS	3845	HP:0002205	Recurrent respiratory infections
OMIM:614470	KRAS	3845	HP:0001875	Neutropenia
OMIM:614470	NRAS	4893	HP:0002665	Lymphoma
OMIM:614470	NRAS	4893	HP:0010702	Increased antibody level in blood
OMIM:614470	NRAS	4893	HP:0001876	Pancytopenia
OMIM:614470	NRAS	4893	HP:0002240	Hepatomegaly
OMIM:614470	NRAS	4893	HP:0001878	Hemolytic anemia
OMIM:614470	NRAS	4893	HP:0001744	Splenomegaly
OMIM:614470	NRAS	4893	HP:0001909	Leukemia
OMIM:614470	NRAS	4893	HP:0002205	Recurrent respiratory infections
OMIM:614470	NRAS	4893	HP:0001875	Neutropenia
OMIM:610282	RLBP1	6017	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	RLBP1	6017	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:610282	RLBP1	6017	HP:0000618	Blindness
OMIM:610282	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:610282	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:610282	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:610282	SPATA7	55812	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	SPATA7	55812	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:610282	SPATA7	55812	HP:0000618	Blindness
OMIM:610282	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:610282	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:610282	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:610282	ARL6	84100	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	ARL6	84100	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:610282	ARL6	84100	HP:0000618	Blindness
OMIM:610282	ARL6	84100	HP:0000662	Nyctalopia
OMIM:610282	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:610282	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:610282	CERKL	375298	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	CERKL	375298	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:610282	CERKL	375298	HP:0000618	Blindness
OMIM:610282	CERKL	375298	HP:0000662	Nyctalopia
OMIM:610282	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:610282	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:610282	PRPF31	26121	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	PRPF31	26121	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:610282	PRPF31	26121	HP:0000618	Blindness
OMIM:610282	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:610282	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:610282	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:610282	TTC8	123016	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	TTC8	123016	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:610282	TTC8	123016	HP:0000618	Blindness
OMIM:610282	TTC8	123016	HP:0000662	Nyctalopia
OMIM:610282	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:610282	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:610282	PROM1	8842	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:610282	PROM1	8842	HP:0000618	Blindness
OMIM:610282	PROM1	8842	HP:0000662	Nyctalopia
OMIM:610282	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:610282	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:610282	LRAT	9227	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	LRAT	9227	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:610282	LRAT	9227	HP:0000618	Blindness
OMIM:610282	LRAT	9227	HP:0000662	Nyctalopia
OMIM:610282	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:610282	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:610282	IFT140	9742	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	IFT140	9742	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:610282	IFT140	9742	HP:0000618	Blindness
OMIM:610282	IFT140	9742	HP:0000662	Nyctalopia
OMIM:610282	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:610282	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:610282	BEST1	7439	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	BEST1	7439	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:610282	BEST1	7439	HP:0000618	Blindness
OMIM:610282	BEST1	7439	HP:0000662	Nyctalopia
OMIM:610282	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:610282	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:610282	NEK2	4751	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	NEK2	4751	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:610282	NEK2	4751	HP:0000618	Blindness
OMIM:610282	NEK2	4751	HP:0000662	Nyctalopia
OMIM:610282	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:610282	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:610282	ARL2BP	23568	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	ARL2BP	23568	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:610282	ARL2BP	23568	HP:0000618	Blindness
OMIM:610282	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:610282	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:610282	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:610282	NR2E3	10002	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	NR2E3	10002	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:610282	NR2E3	10002	HP:0000618	Blindness
OMIM:610282	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:610282	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:610282	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:610282	EYS	346007	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	EYS	346007	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:610282	EYS	346007	HP:0000618	Blindness
OMIM:610282	EYS	346007	HP:0000662	Nyctalopia
OMIM:610282	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:610282	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:610282	MAK	4117	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	MAK	4117	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:610282	MAK	4117	HP:0000618	Blindness
OMIM:610282	MAK	4117	HP:0000662	Nyctalopia
OMIM:610282	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:610282	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:610282	SAG	6295	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	SAG	6295	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:610282	SAG	6295	HP:0000618	Blindness
OMIM:610282	SAG	6295	HP:0000662	Nyctalopia
OMIM:610282	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:610282	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:610282	ABCA4	24	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:610282	ABCA4	24	HP:0000618	Blindness
OMIM:610282	ABCA4	24	HP:0000662	Nyctalopia
OMIM:610282	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:610282	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:610282	PDE6A	5145	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	PDE6A	5145	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:610282	PDE6A	5145	HP:0000618	Blindness
OMIM:610282	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:610282	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:610282	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:610282	PDE6G	5148	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	PDE6G	5148	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:610282	PDE6G	5148	HP:0000618	Blindness
OMIM:610282	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:610282	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:610282	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:610282	IMPDH1	3614	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	IMPDH1	3614	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:610282	IMPDH1	3614	HP:0000618	Blindness
OMIM:610282	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:610282	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:610282	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:610282	OFD1	8481	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	OFD1	8481	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:610282	OFD1	8481	HP:0000618	Blindness
OMIM:610282	OFD1	8481	HP:0000662	Nyctalopia
OMIM:610282	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:610282	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:610282	GUCA1B	2979	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	GUCA1B	2979	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:610282	GUCA1B	2979	HP:0000618	Blindness
OMIM:610282	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:610282	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:610282	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:610282	NRL	4901	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	NRL	4901	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:610282	NRL	4901	HP:0000618	Blindness
OMIM:610282	NRL	4901	HP:0000662	Nyctalopia
OMIM:610282	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:610282	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:610282	PDE6B	5158	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	PDE6B	5158	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:610282	PDE6B	5158	HP:0000618	Blindness
OMIM:610282	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:610282	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:610282	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:610282	KLHL7	55975	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	KLHL7	55975	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:610282	KLHL7	55975	HP:0000618	Blindness
OMIM:610282	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:610282	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:610282	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:610282	PRPF4	9128	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	PRPF4	9128	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:610282	PRPF4	9128	HP:0000618	Blindness
OMIM:610282	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:610282	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:610282	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:610282	PRPF3	9129	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	PRPF3	9129	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:610282	PRPF3	9129	HP:0000618	Blindness
OMIM:610282	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:610282	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:610282	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:610282	FAM161A	84140	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	FAM161A	84140	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:610282	FAM161A	84140	HP:0000618	Blindness
OMIM:610282	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:610282	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:610282	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:610282	IFT172	26160	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	IFT172	26160	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:610282	IFT172	26160	HP:0000618	Blindness
OMIM:610282	IFT172	26160	HP:0000662	Nyctalopia
OMIM:610282	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:610282	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:610282	KIZ	55857	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	KIZ	55857	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:610282	KIZ	55857	HP:0000618	Blindness
OMIM:610282	KIZ	55857	HP:0000662	Nyctalopia
OMIM:610282	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:610282	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:610282	CDHR1	92211	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:610282	CDHR1	92211	HP:0000618	Blindness
OMIM:610282	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:610282	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:610282	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:610282	ZNF408	79797	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	ZNF408	79797	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:610282	ZNF408	79797	HP:0000618	Blindness
OMIM:610282	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:610282	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:610282	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:610282	RBP3	5949	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	RBP3	5949	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:610282	RBP3	5949	HP:0000618	Blindness
OMIM:610282	RBP3	5949	HP:0000662	Nyctalopia
OMIM:610282	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:610282	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:610282	HGSNAT	138050	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	HGSNAT	138050	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:610282	HGSNAT	138050	HP:0000618	Blindness
OMIM:610282	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:610282	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:610282	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:610282	FSCN2	25794	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	FSCN2	25794	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:610282	FSCN2	25794	HP:0000618	Blindness
OMIM:610282	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:610282	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:610282	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:610282	PRCD	768206	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	PRCD	768206	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:610282	PRCD	768206	HP:0000618	Blindness
OMIM:610282	PRCD	768206	HP:0000662	Nyctalopia
OMIM:610282	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:610282	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:610282	BBS2	583	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	BBS2	583	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:610282	BBS2	583	HP:0000618	Blindness
OMIM:610282	BBS2	583	HP:0000662	Nyctalopia
OMIM:610282	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:610282	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:610282	RDH12	145226	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	RDH12	145226	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:610282	RDH12	145226	HP:0000618	Blindness
OMIM:610282	RDH12	145226	HP:0000662	Nyctalopia
OMIM:610282	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:610282	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:610282	PRPH2	5961	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:610282	PRPH2	5961	HP:0000618	Blindness
OMIM:610282	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:610282	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:610282	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:610282	DHDDS	79947	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	DHDDS	79947	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:610282	DHDDS	79947	HP:0000618	Blindness
OMIM:610282	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:610282	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:610282	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:610282	ROM1	6094	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	ROM1	6094	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:610282	ROM1	6094	HP:0000618	Blindness
OMIM:610282	ROM1	6094	HP:0000662	Nyctalopia
OMIM:610282	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:610282	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:610282	C2ORF71	388939	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	C2ORF71	388939	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:610282	C2ORF71	388939	HP:0000618	Blindness
OMIM:610282	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:610282	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:610282	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:610282	RP9	6100	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	RP9	6100	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:610282	RP9	6100	HP:0000618	Blindness
OMIM:610282	RP9	6100	HP:0000662	Nyctalopia
OMIM:610282	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:610282	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:610282	PRPF6	24148	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	PRPF6	24148	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:610282	PRPF6	24148	HP:0000618	Blindness
OMIM:610282	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:610282	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:610282	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:610282	RP1	6101	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	RP1	6101	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:610282	RP1	6101	HP:0000618	Blindness
OMIM:610282	RP1	6101	HP:0000662	Nyctalopia
OMIM:610282	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:610282	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:610282	RP2	6102	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	RP2	6102	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:610282	RP2	6102	HP:0000618	Blindness
OMIM:610282	RP2	6102	HP:0000662	Nyctalopia
OMIM:610282	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:610282	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:610282	RPGR	6103	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:610282	RPGR	6103	HP:0000618	Blindness
OMIM:610282	RPGR	6103	HP:0000662	Nyctalopia
OMIM:610282	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:610282	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:610282	SEMA4A	64218	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:610282	SEMA4A	64218	HP:0000618	Blindness
OMIM:610282	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:610282	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:610282	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:610282	C8ORF37	157657	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:610282	C8ORF37	157657	HP:0000618	Blindness
OMIM:610282	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:610282	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:610282	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:610282	IDH3B	3420	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	IDH3B	3420	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:610282	IDH3B	3420	HP:0000618	Blindness
OMIM:610282	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:610282	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:610282	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:610282	MERTK	10461	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	MERTK	10461	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:610282	MERTK	10461	HP:0000618	Blindness
OMIM:610282	MERTK	10461	HP:0000662	Nyctalopia
OMIM:610282	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:610282	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:610282	PRPF8	10594	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	PRPF8	10594	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:610282	PRPF8	10594	HP:0000618	Blindness
OMIM:610282	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:610282	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:610282	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:610282	TOPORS	10210	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	TOPORS	10210	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:610282	TOPORS	10210	HP:0000618	Blindness
OMIM:610282	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:610282	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:610282	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:610282	USH2A	7399	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	USH2A	7399	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:610282	USH2A	7399	HP:0000618	Blindness
OMIM:610282	USH2A	7399	HP:0000662	Nyctalopia
OMIM:610282	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:610282	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:610282	RPE65	6121	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	RPE65	6121	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:610282	RPE65	6121	HP:0000618	Blindness
OMIM:610282	RPE65	6121	HP:0000662	Nyctalopia
OMIM:610282	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:610282	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:610282	CLRN1	7401	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	CLRN1	7401	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:610282	CLRN1	7401	HP:0000618	Blindness
OMIM:610282	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:610282	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:610282	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:610282	CNGB1	1258	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	CNGB1	1258	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:610282	CNGB1	1258	HP:0000618	Blindness
OMIM:610282	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:610282	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:610282	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:610282	RGR	5995	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	RGR	5995	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:610282	RGR	5995	HP:0000618	Blindness
OMIM:610282	RGR	5995	HP:0000662	Nyctalopia
OMIM:610282	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:610282	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:610282	CNGA1	1259	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	CNGA1	1259	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:610282	CNGA1	1259	HP:0000618	Blindness
OMIM:610282	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:610282	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:610282	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:610282	TUB	7275	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	TUB	7275	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:610282	TUB	7275	HP:0000618	Blindness
OMIM:610282	TUB	7275	HP:0000662	Nyctalopia
OMIM:610282	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:610282	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:610282	SNRNP200	23020	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	SNRNP200	23020	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:610282	SNRNP200	23020	HP:0000618	Blindness
OMIM:610282	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:610282	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:610282	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:610282	SLC7A14	57709	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	SLC7A14	57709	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:610282	SLC7A14	57709	HP:0000618	Blindness
OMIM:610282	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:610282	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:610282	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:610282	TULP1	7287	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	TULP1	7287	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:610282	TULP1	7287	HP:0000618	Blindness
OMIM:610282	TULP1	7287	HP:0000662	Nyctalopia
OMIM:610282	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:610282	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:610282	RHO	6010	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	RHO	6010	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:610282	RHO	6010	HP:0000618	Blindness
OMIM:610282	RHO	6010	HP:0000662	Nyctalopia
OMIM:610282	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:610282	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:610282	CA4	762	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	CA4	762	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:610282	CA4	762	HP:0000618	Blindness
OMIM:610282	CA4	762	HP:0000662	Nyctalopia
OMIM:610282	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:610282	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:610282	CRB1	23418	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	CRB1	23418	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:610282	CRB1	23418	HP:0000618	Blindness
OMIM:610282	CRB1	23418	HP:0000662	Nyctalopia
OMIM:610282	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:610282	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:610282	IMPG2	50939	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	IMPG2	50939	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:610282	IMPG2	50939	HP:0000618	Blindness
OMIM:610282	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:610282	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:610282	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:610282	ZNF513	130557	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	ZNF513	130557	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:610282	ZNF513	130557	HP:0000618	Blindness
OMIM:610282	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:610282	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:610282	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:610282	CRX	1406	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:610282	CRX	1406	HP:0000618	Blindness
OMIM:610282	CRX	1406	HP:0000662	Nyctalopia
OMIM:610282	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:610282	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:600522	PLA2G4A	5321	HP:0000007	Autosomal recessive inheritance
ORPHANET:46532	HBB	3043	HP:0002240	Hepatomegaly
ORPHANET:46532	HBB	3043	HP:0001903	Anemia
ORPHANET:46532	HBB	3043	HP:0000980	Pallor
ORPHANET:46532	HBB	3043	HP:0001744	Splenomegaly
ORPHANET:46532	HBB	3043	HP:0000924	Abnormality of the skeletal system
ORPHANET:46532	KLF1	10661	HP:0002240	Hepatomegaly
ORPHANET:46532	KLF1	10661	HP:0001903	Anemia
ORPHANET:46532	KLF1	10661	HP:0000980	Pallor
ORPHANET:46532	KLF1	10661	HP:0001744	Splenomegaly
ORPHANET:46532	KLF1	10661	HP:0000924	Abnormality of the skeletal system
ORPHANET:46532	HBG1	3047	HP:0002240	Hepatomegaly
ORPHANET:46532	HBG1	3047	HP:0001903	Anemia
ORPHANET:46532	HBG1	3047	HP:0000980	Pallor
ORPHANET:46532	HBG1	3047	HP:0001744	Splenomegaly
ORPHANET:46532	HBG1	3047	HP:0000924	Abnormality of the skeletal system
ORPHANET:46532	HBG2	3048	HP:0002240	Hepatomegaly
ORPHANET:46532	HBG2	3048	HP:0001903	Anemia
ORPHANET:46532	HBG2	3048	HP:0000980	Pallor
ORPHANET:46532	HBG2	3048	HP:0001744	Splenomegaly
ORPHANET:46532	HBG2	3048	HP:0000924	Abnormality of the skeletal system
OMIM:614078	IMPAD1	54928	HP:0001156	Brachydactyly syndrome
OMIM:614078	IMPAD1	54928	HP:0000347	Micrognathia
OMIM:614078	IMPAD1	54928	HP:0001773	Short foot
OMIM:614078	IMPAD1	54928	HP:0000007	Autosomal recessive inheritance
OMIM:614078	IMPAD1	54928	HP:0002857	Genu valgum
OMIM:614078	IMPAD1	54928	HP:0003196	Short nose
OMIM:614078	IMPAD1	54928	HP:0010049	Short metacarpal
OMIM:614078	IMPAD1	54928	HP:0004322	Short stature
OMIM:614078	IMPAD1	54928	HP:0004440	Coronal craniosynostosis
OMIM:614078	IMPAD1	54928	HP:0000365	Hearing impairment
OMIM:614078	IMPAD1	54928	HP:0000431	Wide nasal bridge
OMIM:614078	IMPAD1	54928	HP:0012368	Flat face
OMIM:614078	IMPAD1	54928	HP:0000520	Proptosis
OMIM:614078	IMPAD1	54928	HP:0000348	High forehead
OMIM:614078	IMPAD1	54928	HP:0002999	Patellar dislocation
OMIM:614078	IMPAD1	54928	HP:0000160	Narrow mouth
OMIM:614078	IMPAD1	54928	HP:0001831	Short toe
OMIM:118700	NKX2-1	7080	HP:0000739	Anxiety
OMIM:118700	NKX2-1	7080	HP:0003621	Juvenile onset
OMIM:118700	NKX2-1	7080	HP:0000006	Autosomal dominant inheritance
OMIM:118700	NKX2-1	7080	HP:0001260	Dysarthria
OMIM:118700	NKX2-1	7080	HP:0001288	Gait disturbance
OMIM:118700	NKX2-1	7080	HP:0002072	Chorea
OMIM:118700	NKX2-1	7080	HP:0001270	Motor delay
OMIM:118700	NKX2-1	7080	HP:0003812	Phenotypic variability
OMIM:118700	ADCY5	111	HP:0000739	Anxiety
OMIM:118700	ADCY5	111	HP:0003621	Juvenile onset
OMIM:118700	ADCY5	111	HP:0000006	Autosomal dominant inheritance
OMIM:118700	ADCY5	111	HP:0001260	Dysarthria
OMIM:118700	ADCY5	111	HP:0001288	Gait disturbance
OMIM:118700	ADCY5	111	HP:0002072	Chorea
OMIM:118700	ADCY5	111	HP:0001270	Motor delay
OMIM:118700	ADCY5	111	HP:0003812	Phenotypic variability
OMIM:612775	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:612775	AIPL1	23746	HP:0000505	Visual impairment
OMIM:612775	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	PITPNM3	83394	HP:0000007	Autosomal recessive inheritance
OMIM:612775	PITPNM3	83394	HP:0000505	Visual impairment
OMIM:612775	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	OPN1LW	5956	HP:0000007	Autosomal recessive inheritance
OMIM:612775	OPN1LW	5956	HP:0000505	Visual impairment
OMIM:612775	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	UNC119	9094	HP:0000007	Autosomal recessive inheritance
OMIM:612775	UNC119	9094	HP:0000505	Visual impairment
OMIM:612775	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:612775	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:612775	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:612775	PRPH2	5961	HP:0000505	Visual impairment
OMIM:612775	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:612775	CACNA1F	778	HP:0000505	Visual impairment
OMIM:612775	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:612775	PROM1	8842	HP:0000505	Visual impairment
OMIM:612775	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	DRAM2	128338	HP:0000007	Autosomal recessive inheritance
OMIM:612775	DRAM2	128338	HP:0000505	Visual impairment
OMIM:612775	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:612775	CACNA2D4	93589	HP:0000505	Visual impairment
OMIM:612775	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	RAB28	9364	HP:0000007	Autosomal recessive inheritance
OMIM:612775	RAB28	9364	HP:0000505	Visual impairment
OMIM:612775	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	RIMS1	22999	HP:0000007	Autosomal recessive inheritance
OMIM:612775	RIMS1	22999	HP:0000505	Visual impairment
OMIM:612775	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:612775	RPGR	6103	HP:0000505	Visual impairment
OMIM:612775	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:612775	ABCA4	24	HP:0000505	Visual impairment
OMIM:612775	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:612775	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:612775	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:612775	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:612775	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	OPN1MW	2652	HP:0000007	Autosomal recessive inheritance
OMIM:612775	OPN1MW	2652	HP:0000505	Visual impairment
OMIM:612775	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	GUCA1A	2978	HP:0000007	Autosomal recessive inheritance
OMIM:612775	GUCA1A	2978	HP:0000505	Visual impairment
OMIM:612775	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	RAX2	84839	HP:0000007	Autosomal recessive inheritance
OMIM:612775	RAX2	84839	HP:0000505	Visual impairment
OMIM:612775	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	CNGA3	1261	HP:0000007	Autosomal recessive inheritance
OMIM:612775	CNGA3	1261	HP:0000505	Visual impairment
OMIM:612775	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	ADAM9	8754	HP:0000007	Autosomal recessive inheritance
OMIM:612775	ADAM9	8754	HP:0000505	Visual impairment
OMIM:612775	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:612775	CDHR1	92211	HP:0000505	Visual impairment
OMIM:612775	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	TTLL5	23093	HP:0000007	Autosomal recessive inheritance
OMIM:612775	TTLL5	23093	HP:0000505	Visual impairment
OMIM:612775	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:612775	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:612775	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	POC1B	282809	HP:0000007	Autosomal recessive inheritance
OMIM:612775	POC1B	282809	HP:0000505	Visual impairment
OMIM:612775	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:612775	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:612775	CRX	1406	HP:0000505	Visual impairment
OMIM:612775	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:614180	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:614180	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:614180	RLBP1	6017	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	RLBP1	6017	HP:0000505	Visual impairment
OMIM:614180	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:614180	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:614180	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:614180	SPATA7	55812	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	SPATA7	55812	HP:0000505	Visual impairment
OMIM:614180	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:614180	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:614180	ARL6	84100	HP:0000662	Nyctalopia
OMIM:614180	ARL6	84100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	ARL6	84100	HP:0000505	Visual impairment
OMIM:614180	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:614180	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:614180	CERKL	375298	HP:0000662	Nyctalopia
OMIM:614180	CERKL	375298	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	CERKL	375298	HP:0000505	Visual impairment
OMIM:614180	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:614180	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:614180	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:614180	PRPF31	26121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	PRPF31	26121	HP:0000505	Visual impairment
OMIM:614180	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:614180	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:614180	TTC8	123016	HP:0000662	Nyctalopia
OMIM:614180	TTC8	123016	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	TTC8	123016	HP:0000505	Visual impairment
OMIM:614180	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:614180	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:614180	PROM1	8842	HP:0000662	Nyctalopia
OMIM:614180	PROM1	8842	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	PROM1	8842	HP:0000505	Visual impairment
OMIM:614180	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:614180	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:614180	LRAT	9227	HP:0000662	Nyctalopia
OMIM:614180	LRAT	9227	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	LRAT	9227	HP:0000505	Visual impairment
OMIM:614180	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:614180	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:614180	IFT140	9742	HP:0000662	Nyctalopia
OMIM:614180	IFT140	9742	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	IFT140	9742	HP:0000505	Visual impairment
OMIM:614180	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:614180	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:614180	BEST1	7439	HP:0000662	Nyctalopia
OMIM:614180	BEST1	7439	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	BEST1	7439	HP:0000505	Visual impairment
OMIM:614180	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:614180	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:614180	NEK2	4751	HP:0000662	Nyctalopia
OMIM:614180	NEK2	4751	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	NEK2	4751	HP:0000505	Visual impairment
OMIM:614180	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:614180	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:614180	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:614180	ARL2BP	23568	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	ARL2BP	23568	HP:0000505	Visual impairment
OMIM:614180	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:614180	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:614180	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:614180	NR2E3	10002	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	NR2E3	10002	HP:0000505	Visual impairment
OMIM:614180	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:614180	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:614180	EYS	346007	HP:0000662	Nyctalopia
OMIM:614180	EYS	346007	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	EYS	346007	HP:0000505	Visual impairment
OMIM:614180	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:614180	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:614180	MAK	4117	HP:0000662	Nyctalopia
OMIM:614180	MAK	4117	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	MAK	4117	HP:0000505	Visual impairment
OMIM:614180	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:614180	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:614180	SAG	6295	HP:0000662	Nyctalopia
OMIM:614180	SAG	6295	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	SAG	6295	HP:0000505	Visual impairment
OMIM:614180	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:614180	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:614180	ABCA4	24	HP:0000662	Nyctalopia
OMIM:614180	ABCA4	24	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	ABCA4	24	HP:0000505	Visual impairment
OMIM:614180	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:614180	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:614180	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:614180	PDE6A	5145	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	PDE6A	5145	HP:0000505	Visual impairment
OMIM:614180	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:614180	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:614180	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:614180	PDE6G	5148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	PDE6G	5148	HP:0000505	Visual impairment
OMIM:614180	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:614180	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:614180	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:614180	IMPDH1	3614	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:614180	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:614180	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:614180	OFD1	8481	HP:0000662	Nyctalopia
OMIM:614180	OFD1	8481	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	OFD1	8481	HP:0000505	Visual impairment
OMIM:614180	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:614180	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:614180	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:614180	GUCA1B	2979	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	GUCA1B	2979	HP:0000505	Visual impairment
OMIM:614180	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:614180	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:614180	NRL	4901	HP:0000662	Nyctalopia
OMIM:614180	NRL	4901	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	NRL	4901	HP:0000505	Visual impairment
OMIM:614180	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:614180	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:614180	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:614180	PDE6B	5158	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	PDE6B	5158	HP:0000505	Visual impairment
OMIM:614180	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:614180	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:614180	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:614180	KLHL7	55975	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	KLHL7	55975	HP:0000505	Visual impairment
OMIM:614180	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:614180	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:614180	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:614180	PRPF4	9128	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	PRPF4	9128	HP:0000505	Visual impairment
OMIM:614180	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:614180	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:614180	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:614180	PRPF3	9129	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	PRPF3	9129	HP:0000505	Visual impairment
OMIM:614180	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:614180	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:614180	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:614180	FAM161A	84140	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	FAM161A	84140	HP:0000505	Visual impairment
OMIM:614180	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:614180	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:614180	IFT172	26160	HP:0000662	Nyctalopia
OMIM:614180	IFT172	26160	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	IFT172	26160	HP:0000505	Visual impairment
OMIM:614180	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:614180	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:614180	KIZ	55857	HP:0000662	Nyctalopia
OMIM:614180	KIZ	55857	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	KIZ	55857	HP:0000505	Visual impairment
OMIM:614180	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:614180	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:614180	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:614180	CDHR1	92211	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	CDHR1	92211	HP:0000505	Visual impairment
OMIM:614180	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:614180	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:614180	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:614180	ZNF408	79797	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	ZNF408	79797	HP:0000505	Visual impairment
OMIM:614180	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:614180	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:614180	RBP3	5949	HP:0000662	Nyctalopia
OMIM:614180	RBP3	5949	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	RBP3	5949	HP:0000505	Visual impairment
OMIM:614180	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:614180	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:614180	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:614180	HGSNAT	138050	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	HGSNAT	138050	HP:0000505	Visual impairment
OMIM:614180	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:614180	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:614180	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:614180	FSCN2	25794	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	FSCN2	25794	HP:0000505	Visual impairment
OMIM:614180	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:614180	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:614180	PRCD	768206	HP:0000662	Nyctalopia
OMIM:614180	PRCD	768206	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	PRCD	768206	HP:0000505	Visual impairment
OMIM:614180	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:614180	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:614180	BBS2	583	HP:0000662	Nyctalopia
OMIM:614180	BBS2	583	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	BBS2	583	HP:0000505	Visual impairment
OMIM:614180	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:614180	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:614180	RDH12	145226	HP:0000662	Nyctalopia
OMIM:614180	RDH12	145226	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	RDH12	145226	HP:0000505	Visual impairment
OMIM:614180	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:614180	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:614180	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:614180	PRPH2	5961	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	PRPH2	5961	HP:0000505	Visual impairment
OMIM:614180	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:614180	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:614180	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:614180	DHDDS	79947	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	DHDDS	79947	HP:0000505	Visual impairment
OMIM:614180	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:614180	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:614180	ROM1	6094	HP:0000662	Nyctalopia
OMIM:614180	ROM1	6094	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	ROM1	6094	HP:0000505	Visual impairment
OMIM:614180	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:614180	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:614180	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:614180	C2ORF71	388939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	C2ORF71	388939	HP:0000505	Visual impairment
OMIM:614180	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:614180	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:614180	RP9	6100	HP:0000662	Nyctalopia
OMIM:614180	RP9	6100	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	RP9	6100	HP:0000505	Visual impairment
OMIM:614180	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:614180	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:614180	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:614180	PRPF6	24148	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	PRPF6	24148	HP:0000505	Visual impairment
OMIM:614180	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:614180	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:614180	RP1	6101	HP:0000662	Nyctalopia
OMIM:614180	RP1	6101	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	RP1	6101	HP:0000505	Visual impairment
OMIM:614180	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:614180	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:614180	RP2	6102	HP:0000662	Nyctalopia
OMIM:614180	RP2	6102	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	RP2	6102	HP:0000505	Visual impairment
OMIM:614180	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:614180	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:614180	RPGR	6103	HP:0000662	Nyctalopia
OMIM:614180	RPGR	6103	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	RPGR	6103	HP:0000505	Visual impairment
OMIM:614180	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:614180	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:614180	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:614180	SEMA4A	64218	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:614180	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:614180	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:614180	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:614180	C8ORF37	157657	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:614180	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:614180	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:614180	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:614180	IDH3B	3420	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	IDH3B	3420	HP:0000505	Visual impairment
OMIM:614180	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:614180	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:614180	MERTK	10461	HP:0000662	Nyctalopia
OMIM:614180	MERTK	10461	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	MERTK	10461	HP:0000505	Visual impairment
OMIM:614180	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:614180	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:614180	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:614180	PRPF8	10594	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	PRPF8	10594	HP:0000505	Visual impairment
OMIM:614180	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:614180	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:614180	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:614180	TOPORS	10210	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	TOPORS	10210	HP:0000505	Visual impairment
OMIM:614180	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:614180	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:614180	USH2A	7399	HP:0000662	Nyctalopia
OMIM:614180	USH2A	7399	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	USH2A	7399	HP:0000505	Visual impairment
OMIM:614180	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:614180	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:614180	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:614180	CLRN1	7401	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	CLRN1	7401	HP:0000505	Visual impairment
OMIM:614180	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:614180	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:614180	RPE65	6121	HP:0000662	Nyctalopia
OMIM:614180	RPE65	6121	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	RPE65	6121	HP:0000505	Visual impairment
OMIM:614180	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:614180	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:614180	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:614180	CNGB1	1258	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	CNGB1	1258	HP:0000505	Visual impairment
OMIM:614180	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:614180	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:614180	RGR	5995	HP:0000662	Nyctalopia
OMIM:614180	RGR	5995	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	RGR	5995	HP:0000505	Visual impairment
OMIM:614180	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:614180	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:614180	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:614180	CNGA1	1259	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	CNGA1	1259	HP:0000505	Visual impairment
OMIM:614180	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:614180	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:614180	TUB	7275	HP:0000662	Nyctalopia
OMIM:614180	TUB	7275	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	TUB	7275	HP:0000505	Visual impairment
OMIM:614180	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:614180	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:614180	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:614180	SNRNP200	23020	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	SNRNP200	23020	HP:0000505	Visual impairment
OMIM:614180	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:614180	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:614180	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:614180	SLC7A14	57709	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	SLC7A14	57709	HP:0000505	Visual impairment
OMIM:614180	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:614180	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:614180	TULP1	7287	HP:0000662	Nyctalopia
OMIM:614180	TULP1	7287	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	TULP1	7287	HP:0000505	Visual impairment
OMIM:614180	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:614180	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:614180	RHO	6010	HP:0000662	Nyctalopia
OMIM:614180	RHO	6010	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	RHO	6010	HP:0000505	Visual impairment
OMIM:614180	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:614180	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:614180	CA4	762	HP:0000662	Nyctalopia
OMIM:614180	CA4	762	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	CA4	762	HP:0000505	Visual impairment
OMIM:614180	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:614180	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:614180	CRB1	23418	HP:0000662	Nyctalopia
OMIM:614180	CRB1	23418	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	CRB1	23418	HP:0000505	Visual impairment
OMIM:614180	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:614180	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:614180	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:614180	IMPG2	50939	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	IMPG2	50939	HP:0000505	Visual impairment
OMIM:614180	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:614180	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:614180	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:614180	ZNF513	130557	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	ZNF513	130557	HP:0000505	Visual impairment
OMIM:614180	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:614180	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:614180	CRX	1406	HP:0000662	Nyctalopia
OMIM:614180	CRX	1406	HP:0007688	Undetectable light- and dark-adapted electroretinogram
OMIM:614180	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:614180	CRX	1406	HP:0000505	Visual impairment
OMIM:614180	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:614180	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:615838	LYRM7	90624	HP:0001252	Muscular hypotonia
OMIM:615838	LYRM7	90624	HP:0001285	Spastic tetraparesis
OMIM:615838	LYRM7	90624	HP:0001324	Muscle weakness
OMIM:615838	LYRM7	90624	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615838	LYRM7	90624	HP:0002878	Respiratory failure
OMIM:615838	LYRM7	90624	HP:0001254	Lethargy
OMIM:615838	LYRM7	90624	HP:0002151	Increased serum lactate
OMIM:615838	LYRM7	90624	HP:0002376	Developmental regression
OMIM:615838	LYRM7	90624	HP:0002059	Cerebral atrophy
OMIM:615838	LYRM7	90624	HP:0003128	Lactic acidosis
OMIM:615838	LYRM7	90624	HP:0001903	Anemia
OMIM:615838	UQCRQ	27089	HP:0001252	Muscular hypotonia
OMIM:615838	UQCRQ	27089	HP:0001285	Spastic tetraparesis
OMIM:615838	UQCRQ	27089	HP:0001324	Muscle weakness
OMIM:615838	UQCRQ	27089	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615838	UQCRQ	27089	HP:0002878	Respiratory failure
OMIM:615838	UQCRQ	27089	HP:0001254	Lethargy
OMIM:615838	UQCRQ	27089	HP:0002151	Increased serum lactate
OMIM:615838	UQCRQ	27089	HP:0002376	Developmental regression
OMIM:615838	UQCRQ	27089	HP:0002059	Cerebral atrophy
OMIM:615838	UQCRQ	27089	HP:0003128	Lactic acidosis
OMIM:615838	UQCRQ	27089	HP:0001903	Anemia
OMIM:615838	CYC1	1537	HP:0001252	Muscular hypotonia
OMIM:615838	CYC1	1537	HP:0001285	Spastic tetraparesis
OMIM:615838	CYC1	1537	HP:0001324	Muscle weakness
OMIM:615838	CYC1	1537	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615838	CYC1	1537	HP:0002878	Respiratory failure
OMIM:615838	CYC1	1537	HP:0001254	Lethargy
OMIM:615838	CYC1	1537	HP:0002151	Increased serum lactate
OMIM:615838	CYC1	1537	HP:0002376	Developmental regression
OMIM:615838	CYC1	1537	HP:0002059	Cerebral atrophy
OMIM:615838	CYC1	1537	HP:0003128	Lactic acidosis
OMIM:615838	CYC1	1537	HP:0001903	Anemia
OMIM:615838	UQCRB	7381	HP:0001252	Muscular hypotonia
OMIM:615838	UQCRB	7381	HP:0001285	Spastic tetraparesis
OMIM:615838	UQCRB	7381	HP:0001324	Muscle weakness
OMIM:615838	UQCRB	7381	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615838	UQCRB	7381	HP:0002878	Respiratory failure
OMIM:615838	UQCRB	7381	HP:0001254	Lethargy
OMIM:615838	UQCRB	7381	HP:0002151	Increased serum lactate
OMIM:615838	UQCRB	7381	HP:0002376	Developmental regression
OMIM:615838	UQCRB	7381	HP:0002059	Cerebral atrophy
OMIM:615838	UQCRB	7381	HP:0003128	Lactic acidosis
OMIM:615838	UQCRB	7381	HP:0001903	Anemia
OMIM:615838	TTC19	54902	HP:0001252	Muscular hypotonia
OMIM:615838	TTC19	54902	HP:0001285	Spastic tetraparesis
OMIM:615838	TTC19	54902	HP:0001324	Muscle weakness
OMIM:615838	TTC19	54902	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615838	TTC19	54902	HP:0002878	Respiratory failure
OMIM:615838	TTC19	54902	HP:0001254	Lethargy
OMIM:615838	TTC19	54902	HP:0002151	Increased serum lactate
OMIM:615838	TTC19	54902	HP:0002376	Developmental regression
OMIM:615838	TTC19	54902	HP:0002059	Cerebral atrophy
OMIM:615838	TTC19	54902	HP:0003128	Lactic acidosis
OMIM:615838	TTC19	54902	HP:0001903	Anemia
OMIM:615838	CYTB	4519	HP:0001252	Muscular hypotonia
OMIM:615838	CYTB	4519	HP:0001285	Spastic tetraparesis
OMIM:615838	CYTB	4519	HP:0001324	Muscle weakness
OMIM:615838	CYTB	4519	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615838	CYTB	4519	HP:0002878	Respiratory failure
OMIM:615838	CYTB	4519	HP:0001254	Lethargy
OMIM:615838	CYTB	4519	HP:0002151	Increased serum lactate
OMIM:615838	CYTB	4519	HP:0002376	Developmental regression
OMIM:615838	CYTB	4519	HP:0002059	Cerebral atrophy
OMIM:615838	CYTB	4519	HP:0003128	Lactic acidosis
OMIM:615838	CYTB	4519	HP:0001903	Anemia
OMIM:615838	UQCC3	790955	HP:0001252	Muscular hypotonia
OMIM:615838	UQCC3	790955	HP:0001285	Spastic tetraparesis
OMIM:615838	UQCC3	790955	HP:0001324	Muscle weakness
OMIM:615838	UQCC3	790955	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615838	UQCC3	790955	HP:0002878	Respiratory failure
OMIM:615838	UQCC3	790955	HP:0001254	Lethargy
OMIM:615838	UQCC3	790955	HP:0002151	Increased serum lactate
OMIM:615838	UQCC3	790955	HP:0002376	Developmental regression
OMIM:615838	UQCC3	790955	HP:0002059	Cerebral atrophy
OMIM:615838	UQCC3	790955	HP:0003128	Lactic acidosis
OMIM:615838	UQCC3	790955	HP:0001903	Anemia
OMIM:615838	BCS1L	617	HP:0001252	Muscular hypotonia
OMIM:615838	BCS1L	617	HP:0001285	Spastic tetraparesis
OMIM:615838	BCS1L	617	HP:0001324	Muscle weakness
OMIM:615838	BCS1L	617	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615838	BCS1L	617	HP:0002878	Respiratory failure
OMIM:615838	BCS1L	617	HP:0001254	Lethargy
OMIM:615838	BCS1L	617	HP:0002151	Increased serum lactate
OMIM:615838	BCS1L	617	HP:0002376	Developmental regression
OMIM:615838	BCS1L	617	HP:0002059	Cerebral atrophy
OMIM:615838	BCS1L	617	HP:0003128	Lactic acidosis
OMIM:615838	BCS1L	617	HP:0001903	Anemia
OMIM:615838	UQCRC2	7385	HP:0001252	Muscular hypotonia
OMIM:615838	UQCRC2	7385	HP:0001285	Spastic tetraparesis
OMIM:615838	UQCRC2	7385	HP:0001324	Muscle weakness
OMIM:615838	UQCRC2	7385	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615838	UQCRC2	7385	HP:0002878	Respiratory failure
OMIM:615838	UQCRC2	7385	HP:0001254	Lethargy
OMIM:615838	UQCRC2	7385	HP:0002151	Increased serum lactate
OMIM:615838	UQCRC2	7385	HP:0002376	Developmental regression
OMIM:615838	UQCRC2	7385	HP:0002059	Cerebral atrophy
OMIM:615838	UQCRC2	7385	HP:0003128	Lactic acidosis
OMIM:615838	UQCRC2	7385	HP:0001903	Anemia
OMIM:615838	UQCC2	84300	HP:0001252	Muscular hypotonia
OMIM:615838	UQCC2	84300	HP:0001285	Spastic tetraparesis
OMIM:615838	UQCC2	84300	HP:0001324	Muscle weakness
OMIM:615838	UQCC2	84300	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615838	UQCC2	84300	HP:0002878	Respiratory failure
OMIM:615838	UQCC2	84300	HP:0001254	Lethargy
OMIM:615838	UQCC2	84300	HP:0002151	Increased serum lactate
OMIM:615838	UQCC2	84300	HP:0002376	Developmental regression
OMIM:615838	UQCC2	84300	HP:0002059	Cerebral atrophy
OMIM:615838	UQCC2	84300	HP:0003128	Lactic acidosis
OMIM:615838	UQCC2	84300	HP:0001903	Anemia
OMIM:256840	CCT5	22948	HP:0000007	Autosomal recessive inheritance
OMIM:256840	CCT5	22948	HP:0100716	Self-injurious behavior
OMIM:256840	CCT5	22948	HP:0001347	Hyperreflexia
OMIM:256840	CCT5	22948	HP:0002936	Distal sensory impairment
OMIM:256840	CCT5	22948	HP:0001760	Abnormality of the foot
OMIM:256840	CCT5	22948	HP:0003693	Distal amyotrophy
OMIM:256840	CCT5	22948	HP:0002169	Clonus
OMIM:256840	CCT5	22948	HP:0001288	Gait disturbance
OMIM:256840	CCT5	22948	HP:0002270	Abnormality of the autonomic nervous system
OMIM:256840	CCT5	22948	HP:0003477	Peripheral axonal neuropathy
OMIM:256840	CCT5	22948	HP:0001276	Hypertonia
OMIM:256840	CCT5	22948	HP:0002064	Spastic gait
OMIM:256840	CCT5	22948	HP:0003487	Babinski sign
OMIM:256840	CCT5	22948	HP:0003563	Hypobetalipoproteinemia
OMIM:256840	CCT5	22948	HP:0001258	Spastic paraplegia
OMIM:256840	CCT5	22948	HP:0003621	Juvenile onset
OMIM:256840	CCT5	22948	HP:0003146	Hypocholesterolemia
OMIM:256840	CCT5	22948	HP:0003593	Infantile onset
OMIM:256840	CCT5	22948	HP:0007328	Impaired pain sensation
OMIM:256840	CCT5	22948	HP:0002754	Osteomyelitis
OMIM:256840	CCT5	22948	HP:0003431	Decreased motor nerve conduction velocity
OMIM:256840	CCT5	22948	HP:0004374	Hemiplegia/hemiparesis
OMIM:615133	GALNTL5	168391	HP:0000007	Autosomal recessive inheritance
OMIM:615133	GALNTL5	168391	HP:0000609	Optic nerve hypoplasia
OMIM:145900	PMP22	5376	HP:0003593	Infantile onset
OMIM:145900	PMP22	5376	HP:0002460	Distal muscle weakness
OMIM:145900	PMP22	5376	HP:0003828	Variable expressivity
OMIM:145900	PMP22	5376	HP:0000006	Autosomal dominant inheritance
OMIM:145900	PMP22	5376	HP:0000639	Nystagmus
OMIM:145900	PMP22	5376	HP:0001265	Hyporeflexia
OMIM:145900	PMP22	5376	HP:0001761	Pes cavus
OMIM:145900	PMP22	5376	HP:0001284	Areflexia
OMIM:145900	PMP22	5376	HP:0003376	Steppage gait
OMIM:145900	PMP22	5376	HP:0002922	Increased CSF protein
OMIM:145900	PMP22	5376	HP:0001178	Ulnar claw
OMIM:145900	PMP22	5376	HP:0003383	Onion bulb formation
OMIM:145900	PMP22	5376	HP:0001425	Heterogeneous
OMIM:145900	PMP22	5376	HP:0001252	Muscular hypotonia
OMIM:145900	PMP22	5376	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:145900	PMP22	5376	HP:0003693	Distal amyotrophy
OMIM:145900	PMP22	5376	HP:0001765	Hammertoe
OMIM:145900	PMP22	5376	HP:0002751	Kyphoscoliosis
OMIM:145900	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
OMIM:145900	PMP22	5376	HP:0001270	Motor delay
OMIM:145900	PMP22	5376	HP:0009027	Foot dorsiflexor weakness
OMIM:145900	PMP22	5376	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:145900	PMP22	5376	HP:0002936	Distal sensory impairment
OMIM:145900	PMP22	5376	HP:0000007	Autosomal recessive inheritance
OMIM:145900	PRX	57716	HP:0003593	Infantile onset
OMIM:145900	PRX	57716	HP:0002460	Distal muscle weakness
OMIM:145900	PRX	57716	HP:0003828	Variable expressivity
OMIM:145900	PRX	57716	HP:0000006	Autosomal dominant inheritance
OMIM:145900	PRX	57716	HP:0000639	Nystagmus
OMIM:145900	PRX	57716	HP:0001265	Hyporeflexia
OMIM:145900	PRX	57716	HP:0001761	Pes cavus
OMIM:145900	PRX	57716	HP:0001284	Areflexia
OMIM:145900	PRX	57716	HP:0003376	Steppage gait
OMIM:145900	PRX	57716	HP:0002922	Increased CSF protein
OMIM:145900	PRX	57716	HP:0001178	Ulnar claw
OMIM:145900	PRX	57716	HP:0003383	Onion bulb formation
OMIM:145900	PRX	57716	HP:0001425	Heterogeneous
OMIM:145900	PRX	57716	HP:0001252	Muscular hypotonia
OMIM:145900	PRX	57716	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:145900	PRX	57716	HP:0003693	Distal amyotrophy
OMIM:145900	PRX	57716	HP:0001765	Hammertoe
OMIM:145900	PRX	57716	HP:0002751	Kyphoscoliosis
OMIM:145900	PRX	57716	HP:0003431	Decreased motor nerve conduction velocity
OMIM:145900	PRX	57716	HP:0001270	Motor delay
OMIM:145900	PRX	57716	HP:0009027	Foot dorsiflexor weakness
OMIM:145900	PRX	57716	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:145900	PRX	57716	HP:0002936	Distal sensory impairment
OMIM:145900	PRX	57716	HP:0000007	Autosomal recessive inheritance
OMIM:145900	MPZ	4359	HP:0003593	Infantile onset
OMIM:145900	MPZ	4359	HP:0002460	Distal muscle weakness
OMIM:145900	MPZ	4359	HP:0003828	Variable expressivity
OMIM:145900	MPZ	4359	HP:0000006	Autosomal dominant inheritance
OMIM:145900	MPZ	4359	HP:0000639	Nystagmus
OMIM:145900	MPZ	4359	HP:0001265	Hyporeflexia
OMIM:145900	MPZ	4359	HP:0001761	Pes cavus
OMIM:145900	MPZ	4359	HP:0001284	Areflexia
OMIM:145900	MPZ	4359	HP:0003376	Steppage gait
OMIM:145900	MPZ	4359	HP:0002922	Increased CSF protein
OMIM:145900	MPZ	4359	HP:0001178	Ulnar claw
OMIM:145900	MPZ	4359	HP:0003383	Onion bulb formation
OMIM:145900	MPZ	4359	HP:0001425	Heterogeneous
OMIM:145900	MPZ	4359	HP:0001252	Muscular hypotonia
OMIM:145900	MPZ	4359	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:145900	MPZ	4359	HP:0003693	Distal amyotrophy
OMIM:145900	MPZ	4359	HP:0001765	Hammertoe
OMIM:145900	MPZ	4359	HP:0002751	Kyphoscoliosis
OMIM:145900	MPZ	4359	HP:0003431	Decreased motor nerve conduction velocity
OMIM:145900	MPZ	4359	HP:0001270	Motor delay
OMIM:145900	MPZ	4359	HP:0009027	Foot dorsiflexor weakness
OMIM:145900	MPZ	4359	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:145900	MPZ	4359	HP:0002936	Distal sensory impairment
OMIM:145900	MPZ	4359	HP:0000007	Autosomal recessive inheritance
OMIM:145900	EGR2	1959	HP:0003593	Infantile onset
OMIM:145900	EGR2	1959	HP:0002460	Distal muscle weakness
OMIM:145900	EGR2	1959	HP:0003828	Variable expressivity
OMIM:145900	EGR2	1959	HP:0000006	Autosomal dominant inheritance
OMIM:145900	EGR2	1959	HP:0000639	Nystagmus
OMIM:145900	EGR2	1959	HP:0001265	Hyporeflexia
OMIM:145900	EGR2	1959	HP:0001761	Pes cavus
OMIM:145900	EGR2	1959	HP:0001284	Areflexia
OMIM:145900	EGR2	1959	HP:0003376	Steppage gait
OMIM:145900	EGR2	1959	HP:0002922	Increased CSF protein
OMIM:145900	EGR2	1959	HP:0001178	Ulnar claw
OMIM:145900	EGR2	1959	HP:0003383	Onion bulb formation
OMIM:145900	EGR2	1959	HP:0001425	Heterogeneous
OMIM:145900	EGR2	1959	HP:0001252	Muscular hypotonia
OMIM:145900	EGR2	1959	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:145900	EGR2	1959	HP:0003693	Distal amyotrophy
OMIM:145900	EGR2	1959	HP:0001765	Hammertoe
OMIM:145900	EGR2	1959	HP:0002751	Kyphoscoliosis
OMIM:145900	EGR2	1959	HP:0003431	Decreased motor nerve conduction velocity
OMIM:145900	EGR2	1959	HP:0001270	Motor delay
OMIM:145900	EGR2	1959	HP:0009027	Foot dorsiflexor weakness
OMIM:145900	EGR2	1959	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:145900	EGR2	1959	HP:0002936	Distal sensory impairment
OMIM:145900	EGR2	1959	HP:0000007	Autosomal recessive inheritance
OMIM:212070	CPN1	1369	HP:0000951	Abnormality of the skin
OMIM:212070	CPN1	1369	HP:0000007	Autosomal recessive inheritance
OMIM:212070	CPN1	1369	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:613060	GABRD	2563	HP:0002121	Absence seizures
OMIM:613060	GABRD	2563	HP:0002123	Generalized myoclonic seizures
OMIM:613060	GABRD	2563	HP:0000006	Autosomal dominant inheritance
OMIM:613060	GABRD	2563	HP:0002373	Febrile seizures
OMIM:613060	GABRD	2563	HP:0003812	Phenotypic variability
OMIM:613060	GABRD	2563	HP:0007359	Focal seizures
OMIM:613060	GABRD	2563	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	GABRG2	2566	HP:0002121	Absence seizures
OMIM:613060	GABRG2	2566	HP:0002123	Generalized myoclonic seizures
OMIM:613060	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:613060	GABRG2	2566	HP:0002373	Febrile seizures
OMIM:613060	GABRG2	2566	HP:0003812	Phenotypic variability
OMIM:613060	GABRG2	2566	HP:0007359	Focal seizures
OMIM:613060	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	KCNQ3	3786	HP:0002121	Absence seizures
OMIM:613060	KCNQ3	3786	HP:0002123	Generalized myoclonic seizures
OMIM:613060	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:613060	KCNQ3	3786	HP:0002373	Febrile seizures
OMIM:613060	KCNQ3	3786	HP:0003812	Phenotypic variability
OMIM:613060	KCNQ3	3786	HP:0007359	Focal seizures
OMIM:613060	KCNQ3	3786	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	CACNB4	785	HP:0002121	Absence seizures
OMIM:613060	CACNB4	785	HP:0002123	Generalized myoclonic seizures
OMIM:613060	CACNB4	785	HP:0000006	Autosomal dominant inheritance
OMIM:613060	CACNB4	785	HP:0002373	Febrile seizures
OMIM:613060	CACNB4	785	HP:0003812	Phenotypic variability
OMIM:613060	CACNB4	785	HP:0007359	Focal seizures
OMIM:613060	CACNB4	785	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	STX1B	112755	HP:0002121	Absence seizures
OMIM:613060	STX1B	112755	HP:0002123	Generalized myoclonic seizures
OMIM:613060	STX1B	112755	HP:0000006	Autosomal dominant inheritance
OMIM:613060	STX1B	112755	HP:0002373	Febrile seizures
OMIM:613060	STX1B	112755	HP:0003812	Phenotypic variability
OMIM:613060	STX1B	112755	HP:0007359	Focal seizures
OMIM:613060	STX1B	112755	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	SCN1A	6323	HP:0002121	Absence seizures
OMIM:613060	SCN1A	6323	HP:0002123	Generalized myoclonic seizures
OMIM:613060	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:613060	SCN1A	6323	HP:0002373	Febrile seizures
OMIM:613060	SCN1A	6323	HP:0003812	Phenotypic variability
OMIM:613060	SCN1A	6323	HP:0007359	Focal seizures
OMIM:613060	SCN1A	6323	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	SCN1B	6324	HP:0002121	Absence seizures
OMIM:613060	SCN1B	6324	HP:0002123	Generalized myoclonic seizures
OMIM:613060	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:613060	SCN1B	6324	HP:0002373	Febrile seizures
OMIM:613060	SCN1B	6324	HP:0003812	Phenotypic variability
OMIM:613060	SCN1B	6324	HP:0007359	Focal seizures
OMIM:613060	SCN1B	6324	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	JRK	8629	HP:0002121	Absence seizures
OMIM:613060	JRK	8629	HP:0002123	Generalized myoclonic seizures
OMIM:613060	JRK	8629	HP:0000006	Autosomal dominant inheritance
OMIM:613060	JRK	8629	HP:0002373	Febrile seizures
OMIM:613060	JRK	8629	HP:0003812	Phenotypic variability
OMIM:613060	JRK	8629	HP:0007359	Focal seizures
OMIM:613060	JRK	8629	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	SCN2A	6326	HP:0002121	Absence seizures
OMIM:613060	SCN2A	6326	HP:0002123	Generalized myoclonic seizures
OMIM:613060	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:613060	SCN2A	6326	HP:0002373	Febrile seizures
OMIM:613060	SCN2A	6326	HP:0003812	Phenotypic variability
OMIM:613060	SCN2A	6326	HP:0007359	Focal seizures
OMIM:613060	SCN2A	6326	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	EFHC1	114327	HP:0002121	Absence seizures
OMIM:613060	EFHC1	114327	HP:0002123	Generalized myoclonic seizures
OMIM:613060	EFHC1	114327	HP:0000006	Autosomal dominant inheritance
OMIM:613060	EFHC1	114327	HP:0002373	Febrile seizures
OMIM:613060	EFHC1	114327	HP:0003812	Phenotypic variability
OMIM:613060	EFHC1	114327	HP:0007359	Focal seizures
OMIM:613060	EFHC1	114327	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	GABRA1	2554	HP:0002121	Absence seizures
OMIM:613060	GABRA1	2554	HP:0002123	Generalized myoclonic seizures
OMIM:613060	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:613060	GABRA1	2554	HP:0002373	Febrile seizures
OMIM:613060	GABRA1	2554	HP:0003812	Phenotypic variability
OMIM:613060	GABRA1	2554	HP:0007359	Focal seizures
OMIM:613060	GABRA1	2554	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	CLCN2	1181	HP:0002121	Absence seizures
OMIM:613060	CLCN2	1181	HP:0002123	Generalized myoclonic seizures
OMIM:613060	CLCN2	1181	HP:0000006	Autosomal dominant inheritance
OMIM:613060	CLCN2	1181	HP:0002373	Febrile seizures
OMIM:613060	CLCN2	1181	HP:0003812	Phenotypic variability
OMIM:613060	CLCN2	1181	HP:0007359	Focal seizures
OMIM:613060	CLCN2	1181	HP:0002069	Generalized tonic-clonic seizures
OMIM:613060	SCN9A	6335	HP:0002121	Absence seizures
OMIM:613060	SCN9A	6335	HP:0002123	Generalized myoclonic seizures
OMIM:613060	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:613060	SCN9A	6335	HP:0002373	Febrile seizures
OMIM:613060	SCN9A	6335	HP:0003812	Phenotypic variability
OMIM:613060	SCN9A	6335	HP:0007359	Focal seizures
OMIM:613060	SCN9A	6335	HP:0002069	Generalized tonic-clonic seizures
OMIM:242600	SLC6A18	348932	HP:0000478	Abnormality of the eye
OMIM:242600	SLC6A18	348932	HP:0003108	Hyperglycinuria
OMIM:242600	SLC6A18	348932	HP:0003137	Prolinuria
OMIM:242600	SLC6A18	348932	HP:0001249	Intellectual disability
OMIM:242600	SLC6A18	348932	HP:0000007	Autosomal recessive inheritance
OMIM:242600	SLC36A2	153201	HP:0000478	Abnormality of the eye
OMIM:242600	SLC36A2	153201	HP:0003108	Hyperglycinuria
OMIM:242600	SLC36A2	153201	HP:0003137	Prolinuria
OMIM:242600	SLC36A2	153201	HP:0001249	Intellectual disability
OMIM:242600	SLC36A2	153201	HP:0000007	Autosomal recessive inheritance
OMIM:242600	SLC6A20	54716	HP:0000478	Abnormality of the eye
OMIM:242600	SLC6A20	54716	HP:0003108	Hyperglycinuria
OMIM:242600	SLC6A20	54716	HP:0003137	Prolinuria
OMIM:242600	SLC6A20	54716	HP:0001249	Intellectual disability
OMIM:242600	SLC6A20	54716	HP:0000007	Autosomal recessive inheritance
OMIM:242600	SLC6A19	340024	HP:0000478	Abnormality of the eye
OMIM:242600	SLC6A19	340024	HP:0003108	Hyperglycinuria
OMIM:242600	SLC6A19	340024	HP:0003137	Prolinuria
OMIM:242600	SLC6A19	340024	HP:0001249	Intellectual disability
OMIM:242600	SLC6A19	340024	HP:0000007	Autosomal recessive inheritance
ORPHANET:316	LOR	4014	HP:0000982	Palmoplantar keratoderma
OMIM:603284	PDCD10	11235	HP:0001250	Seizures
OMIM:603284	PDCD10	11235	HP:0000006	Autosomal dominant inheritance
OMIM:603284	PDCD10	11235	HP:0001009	Telangiectasia
OMIM:603284	PDCD10	11235	HP:0001297	Stroke
OMIM:603284	PDCD10	11235	HP:0002315	Headache
OMIM:603284	CCM2	83605	HP:0001250	Seizures
OMIM:603284	CCM2	83605	HP:0000006	Autosomal dominant inheritance
OMIM:603284	CCM2	83605	HP:0001009	Telangiectasia
OMIM:603284	CCM2	83605	HP:0001297	Stroke
OMIM:603284	CCM2	83605	HP:0002315	Headache
OMIM:603284	KRIT1	889	HP:0001250	Seizures
OMIM:603284	KRIT1	889	HP:0000006	Autosomal dominant inheritance
OMIM:603284	KRIT1	889	HP:0001009	Telangiectasia
OMIM:603284	KRIT1	889	HP:0001297	Stroke
OMIM:603284	KRIT1	889	HP:0002315	Headache
OMIM:615277	CRYBA2	1412	HP:0000007	Autosomal recessive inheritance
OMIM:615277	CRYBA2	1412	HP:0007780	Cortical pulverulent cataract
OMIM:615277	CRYBB1	1414	HP:0000007	Autosomal recessive inheritance
OMIM:615277	CRYBB1	1414	HP:0007780	Cortical pulverulent cataract
OMIM:615277	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:615277	AGK	55750	HP:0007780	Cortical pulverulent cataract
OMIM:615277	CRYBB2	1415	HP:0000007	Autosomal recessive inheritance
OMIM:615277	CRYBB2	1415	HP:0007780	Cortical pulverulent cataract
OMIM:615277	VIM	7431	HP:0000007	Autosomal recessive inheritance
OMIM:615277	VIM	7431	HP:0007780	Cortical pulverulent cataract
OMIM:615277	GCNT2	2651	HP:0000007	Autosomal recessive inheritance
OMIM:615277	GCNT2	2651	HP:0007780	Cortical pulverulent cataract
OMIM:615277	CRYGC	1420	HP:0000007	Autosomal recessive inheritance
OMIM:615277	CRYGC	1420	HP:0007780	Cortical pulverulent cataract
OMIM:615277	GJA3	2700	HP:0000007	Autosomal recessive inheritance
OMIM:615277	GJA3	2700	HP:0007780	Cortical pulverulent cataract
OMIM:615277	CRYGD	1421	HP:0000007	Autosomal recessive inheritance
OMIM:615277	CRYGD	1421	HP:0007780	Cortical pulverulent cataract
OMIM:615277	LIM2	3982	HP:0000007	Autosomal recessive inheritance
OMIM:615277	LIM2	3982	HP:0007780	Cortical pulverulent cataract
OMIM:615277	MAF	4094	HP:0000007	Autosomal recessive inheritance
OMIM:615277	MAF	4094	HP:0007780	Cortical pulverulent cataract
OMIM:615277	GJA8	2703	HP:0000007	Autosomal recessive inheritance
OMIM:615277	GJA8	2703	HP:0007780	Cortical pulverulent cataract
OMIM:278730	ERCC2	2068	HP:0000509	Conjunctivitis
OMIM:278730	ERCC2	2068	HP:0000252	Microcephaly
OMIM:278730	ERCC2	2068	HP:0001249	Intellectual disability
OMIM:278730	ERCC2	2068	HP:0000491	Keratitis
OMIM:278730	ERCC2	2068	HP:0001266	Choreoathetosis
OMIM:278730	ERCC2	2068	HP:0000992	Cutaneous photosensitivity
OMIM:278730	ERCC2	2068	HP:0001268	Mental deterioration
OMIM:278730	ERCC2	2068	HP:0001257	Spasticity
OMIM:278730	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:278730	ERCC2	2068	HP:0001265	Hyporeflexia
OMIM:278730	ERCC2	2068	HP:0001009	Telangiectasia
OMIM:278730	ERCC2	2068	HP:0001251	Ataxia
OMIM:278730	ERCC2	2068	HP:0004334	Dermal atrophy
OMIM:278730	ERCC2	2068	HP:0000613	Photophobia
OMIM:278730	ERCC2	2068	HP:0000407	Sensorineural hearing impairment
OMIM:615411	KIF2A	3796	HP:0002510	Spastic tetraplegia
OMIM:615411	KIF2A	3796	HP:0000639	Nystagmus
OMIM:615411	KIF2A	3796	HP:0001339	Lissencephaly
OMIM:615411	KIF2A	3796	HP:0001250	Seizures
OMIM:615411	KIF2A	3796	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615411	KIF2A	3796	HP:0000252	Microcephaly
OMIM:615411	KIF2A	3796	HP:0002539	Cortical dysplasia
OMIM:615411	KIF2A	3796	HP:0000006	Autosomal dominant inheritance
OMIM:615411	KIF2A	3796	HP:0001302	Pachygyria
OMIM:615411	KIF2A	3796	HP:0001511	Intrauterine growth retardation
OMIM:615411	KIF2A	3796	HP:0001263	Global developmental delay
OMIM:616051	ATR	545	HP:0000448	Prominent nose
OMIM:616051	ATR	545	HP:0001511	Intrauterine growth retardation
OMIM:616051	ATR	545	HP:0200055	Small hand
OMIM:616051	ATR	545	HP:0000311	Round face
OMIM:616051	ATR	545	HP:0000252	Microcephaly
OMIM:616051	ATR	545	HP:0000347	Micrognathia
OMIM:616051	ATR	545	HP:0000340	Sloping forehead
OMIM:616051	ATR	545	HP:0001773	Short foot
OMIM:616051	CEP152	22995	HP:0000448	Prominent nose
OMIM:616051	CEP152	22995	HP:0001511	Intrauterine growth retardation
OMIM:616051	CEP152	22995	HP:0200055	Small hand
OMIM:616051	CEP152	22995	HP:0000311	Round face
OMIM:616051	CEP152	22995	HP:0000252	Microcephaly
OMIM:616051	CEP152	22995	HP:0000347	Micrognathia
OMIM:616051	CEP152	22995	HP:0000340	Sloping forehead
OMIM:616051	CEP152	22995	HP:0001773	Short foot
OMIM:616051	CENPE	1062	HP:0000448	Prominent nose
OMIM:616051	CENPE	1062	HP:0001511	Intrauterine growth retardation
OMIM:616051	CENPE	1062	HP:0200055	Small hand
OMIM:616051	CENPE	1062	HP:0000311	Round face
OMIM:616051	CENPE	1062	HP:0000252	Microcephaly
OMIM:616051	CENPE	1062	HP:0000347	Micrognathia
OMIM:616051	CENPE	1062	HP:0000340	Sloping forehead
OMIM:616051	CENPE	1062	HP:0001773	Short foot
OMIM:616051	CENPJ	55835	HP:0000448	Prominent nose
OMIM:616051	CENPJ	55835	HP:0001511	Intrauterine growth retardation
OMIM:616051	CENPJ	55835	HP:0200055	Small hand
OMIM:616051	CENPJ	55835	HP:0000311	Round face
OMIM:616051	CENPJ	55835	HP:0000252	Microcephaly
OMIM:616051	CENPJ	55835	HP:0000347	Micrognathia
OMIM:616051	CENPJ	55835	HP:0000340	Sloping forehead
OMIM:616051	CENPJ	55835	HP:0001773	Short foot
OMIM:616051	PCNT	5116	HP:0000448	Prominent nose
OMIM:616051	PCNT	5116	HP:0001511	Intrauterine growth retardation
OMIM:616051	PCNT	5116	HP:0200055	Small hand
OMIM:616051	PCNT	5116	HP:0000311	Round face
OMIM:616051	PCNT	5116	HP:0000252	Microcephaly
OMIM:616051	PCNT	5116	HP:0000347	Micrognathia
OMIM:616051	PCNT	5116	HP:0000340	Sloping forehead
OMIM:616051	PCNT	5116	HP:0001773	Short foot
OMIM:616051	RBBP8	5932	HP:0000448	Prominent nose
OMIM:616051	RBBP8	5932	HP:0001511	Intrauterine growth retardation
OMIM:616051	RBBP8	5932	HP:0200055	Small hand
OMIM:616051	RBBP8	5932	HP:0000311	Round face
OMIM:616051	RBBP8	5932	HP:0000252	Microcephaly
OMIM:616051	RBBP8	5932	HP:0000347	Micrognathia
OMIM:616051	RBBP8	5932	HP:0000340	Sloping forehead
OMIM:616051	RBBP8	5932	HP:0001773	Short foot
OMIM:616051	PLK4	10733	HP:0000448	Prominent nose
OMIM:616051	PLK4	10733	HP:0001511	Intrauterine growth retardation
OMIM:616051	PLK4	10733	HP:0200055	Small hand
OMIM:616051	PLK4	10733	HP:0000311	Round face
OMIM:616051	PLK4	10733	HP:0000252	Microcephaly
OMIM:616051	PLK4	10733	HP:0000347	Micrognathia
OMIM:616051	PLK4	10733	HP:0000340	Sloping forehead
OMIM:616051	PLK4	10733	HP:0001773	Short foot
OMIM:616051	ATRIP	84126	HP:0000448	Prominent nose
OMIM:616051	ATRIP	84126	HP:0001511	Intrauterine growth retardation
OMIM:616051	ATRIP	84126	HP:0200055	Small hand
OMIM:616051	ATRIP	84126	HP:0000311	Round face
OMIM:616051	ATRIP	84126	HP:0000252	Microcephaly
OMIM:616051	ATRIP	84126	HP:0000347	Micrognathia
OMIM:616051	ATRIP	84126	HP:0000340	Sloping forehead
OMIM:616051	ATRIP	84126	HP:0001773	Short foot
OMIM:615418	SLC25A4	291	HP:0000007	Autosomal recessive inheritance
OMIM:615418	SLC25A4	291	HP:0000518	Cataract
OMIM:615418	SLC25A4	291	HP:0003326	Myalgia
OMIM:615418	SLC25A4	291	HP:0003546	Exercise intolerance
OMIM:615418	SLC25A4	291	HP:0100543	Cognitive impairment
OMIM:615418	SLC25A4	291	HP:0001324	Muscle weakness
OMIM:615418	SLC25A4	291	HP:0001513	Obesity
OMIM:615418	SLC25A4	291	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615418	SLC25A4	291	HP:0003128	Lactic acidosis
OMIM:615418	SLC25A4	291	HP:0003202	Skeletal muscle atrophy
OMIM:615418	SLC25A4	291	HP:0003677	Slow progression
OMIM:615418	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:615418	AGK	55750	HP:0000518	Cataract
OMIM:615418	AGK	55750	HP:0003326	Myalgia
OMIM:615418	AGK	55750	HP:0003546	Exercise intolerance
OMIM:615418	AGK	55750	HP:0100543	Cognitive impairment
OMIM:615418	AGK	55750	HP:0001324	Muscle weakness
OMIM:615418	AGK	55750	HP:0001513	Obesity
OMIM:615418	AGK	55750	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615418	AGK	55750	HP:0003128	Lactic acidosis
OMIM:615418	AGK	55750	HP:0003202	Skeletal muscle atrophy
OMIM:615418	AGK	55750	HP:0003677	Slow progression
OMIM:604717	DIAPH1	1729	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	DIAPH1	1729	HP:0011462	Young adult onset
OMIM:604717	DIAPH1	1729	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:604717	CEACAM16	388551	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	CEACAM16	388551	HP:0011462	Young adult onset
OMIM:604717	CEACAM16	388551	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:604717	SLC17A8	246213	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	SLC17A8	246213	HP:0011462	Young adult onset
OMIM:604717	SLC17A8	246213	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:604717	TJP2	9414	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	TJP2	9414	HP:0011462	Young adult onset
OMIM:604717	TJP2	9414	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:604717	ACTG1	71	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	ACTG1	71	HP:0011462	Young adult onset
OMIM:604717	ACTG1	71	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:604717	CCDC50	152137	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	CCDC50	152137	HP:0011462	Young adult onset
OMIM:604717	CCDC50	152137	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:604717	MIR96	407053	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	MIR96	407053	HP:0011462	Young adult onset
OMIM:604717	MIR96	407053	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:604717	GJB2	2706	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	GJB2	2706	HP:0011462	Young adult onset
OMIM:604717	GJB2	2706	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:604717	POU4F3	5459	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	POU4F3	5459	HP:0011462	Young adult onset
OMIM:604717	POU4F3	5459	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:604717	GJB3	2707	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	GJB3	2707	HP:0011462	Young adult onset
OMIM:604717	GJB3	2707	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:604717	MYH9	4627	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	MYH9	4627	HP:0011462	Young adult onset
OMIM:604717	MYH9	4627	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:604717	CRYM	1428	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	CRYM	1428	HP:0011462	Young adult onset
OMIM:604717	CRYM	1428	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:604717	COL11A2	1302	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	COL11A2	1302	HP:0011462	Young adult onset
OMIM:604717	COL11A2	1302	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:604717	EYA4	2070	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	EYA4	2070	HP:0011462	Young adult onset
OMIM:604717	EYA4	2070	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:604717	DFNA5	1687	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	DFNA5	1687	HP:0011462	Young adult onset
OMIM:604717	DFNA5	1687	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:604717	DIAPH3	81624	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	DIAPH3	81624	HP:0011462	Young adult onset
OMIM:604717	DIAPH3	81624	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:604717	TMC1	117531	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	TMC1	117531	HP:0011462	Young adult onset
OMIM:604717	TMC1	117531	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:604717	COCH	1690	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	COCH	1690	HP:0011462	Young adult onset
OMIM:604717	COCH	1690	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:604717	OSBPL2	9885	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	OSBPL2	9885	HP:0011462	Young adult onset
OMIM:604717	OSBPL2	9885	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:604717	SIX1	6495	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	SIX1	6495	HP:0011462	Young adult onset
OMIM:604717	SIX1	6495	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:604717	TECTA	7007	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	TECTA	7007	HP:0011462	Young adult onset
OMIM:604717	TECTA	7007	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:604717	MYO1A	4640	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	MYO1A	4640	HP:0011462	Young adult onset
OMIM:604717	MYO1A	4640	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:604717	MYO1C	4641	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	MYO1C	4641	HP:0011462	Young adult onset
OMIM:604717	MYO1C	4641	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:604717	MYO6	4646	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	MYO6	4646	HP:0011462	Young adult onset
OMIM:604717	MYO6	4646	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:604717	MYO7A	4647	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	MYO7A	4647	HP:0011462	Young adult onset
OMIM:604717	MYO7A	4647	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:604717	GRHL2	79977	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	GRHL2	79977	HP:0011462	Young adult onset
OMIM:604717	GRHL2	79977	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:604717	DIABLO	56616	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	DIABLO	56616	HP:0011462	Young adult onset
OMIM:604717	DIABLO	56616	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:604717	MYH14	79784	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	MYH14	79784	HP:0011462	Young adult onset
OMIM:604717	MYH14	79784	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:604717	P2RX2	22953	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	P2RX2	22953	HP:0011462	Young adult onset
OMIM:604717	P2RX2	22953	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:604717	WFS1	7466	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	WFS1	7466	HP:0011462	Young adult onset
OMIM:604717	WFS1	7466	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:604717	TNC	3371	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	TNC	3371	HP:0011462	Young adult onset
OMIM:604717	TNC	3371	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:604717	KCNQ4	9132	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	KCNQ4	9132	HP:0011462	Young adult onset
OMIM:604717	KCNQ4	9132	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:604717	HOMER2	9455	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	HOMER2	9455	HP:0011462	Young adult onset
OMIM:604717	HOMER2	9455	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:604717	GJB6	10804	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	GJB6	10804	HP:0011462	Young adult onset
OMIM:604717	GJB6	10804	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:604717	TBC1D24	57465	HP:0000408	Progressive sensorineural hearing impairment
OMIM:604717	TBC1D24	57465	HP:0011462	Young adult onset
OMIM:604717	TBC1D24	57465	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:604717	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:252650	MCOLN1	57192	HP:0000488	Retinopathy
OMIM:252650	MCOLN1	57192	HP:0007703	Abnormality of retinal pigmentation
OMIM:252650	MCOLN1	57192	HP:0000252	Microcephaly
OMIM:252650	MCOLN1	57192	HP:0003593	Infantile onset
OMIM:252650	MCOLN1	57192	HP:0000341	Narrow forehead
OMIM:252650	MCOLN1	57192	HP:0000486	Strabismus
OMIM:252650	MCOLN1	57192	HP:0001344	Absent speech
OMIM:252650	MCOLN1	57192	HP:0002353	EEG abnormality
OMIM:252650	MCOLN1	57192	HP:0005105	Abnormal nasal morphology
OMIM:252650	MCOLN1	57192	HP:0000613	Photophobia
OMIM:252650	MCOLN1	57192	HP:0001272	Cerebellar atrophy
OMIM:252650	MCOLN1	57192	HP:0000982	Palmoplantar keratoderma
OMIM:252650	MCOLN1	57192	HP:0006989	Dysplastic corpus callosum
OMIM:252650	MCOLN1	57192	HP:0001252	Muscular hypotonia
OMIM:252650	MCOLN1	57192	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:252650	MCOLN1	57192	HP:0002167	Neurological speech impairment
OMIM:252650	MCOLN1	57192	HP:0002311	Incoordination
OMIM:252650	MCOLN1	57192	HP:0001288	Gait disturbance
OMIM:252650	MCOLN1	57192	HP:0000007	Autosomal recessive inheritance
OMIM:252650	MCOLN1	57192	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:252650	MCOLN1	57192	HP:0007759	Opacification of the corneal stroma
OMIM:252650	MCOLN1	57192	HP:0000512	Abnormal electroretinogram
OMIM:252650	MCOLN1	57192	HP:0001347	Hyperreflexia
OMIM:252650	MCOLN1	57192	HP:0011020	Abnormality of mucopolysaccharide metabolism
OMIM:252650	MCOLN1	57192	HP:0000639	Nystagmus
OMIM:252650	MCOLN1	57192	HP:0001332	Dystonia
OMIM:252650	MCOLN1	57192	HP:0001438	Abnormality of the abdomen
OMIM:252650	MCOLN1	57192	HP:0100543	Cognitive impairment
OMIM:252650	MCOLN1	57192	HP:0002816	Genu recurvatum
OMIM:252650	MCOLN1	57192	HP:0000232	Everted lower lip vermilion
OMIM:252650	MCOLN1	57192	HP:0000648	Optic atrophy
OMIM:252650	MCOLN1	57192	HP:0003487	Babinski sign
OMIM:252650	MCOLN1	57192	HP:0002510	Spastic tetraplegia
OMIM:252650	MCOLN1	57192	HP:0000691	Microdontia
OMIM:252650	MCOLN1	57192	HP:0001249	Intellectual disability
OMIM:252650	MCOLN1	57192	HP:0000280	Coarse facial features
OMIM:613765	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613765	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:613751	ACVR2B	93	HP:0012020	Right aortic arch
OMIM:613751	ACVR2B	93	HP:0000006	Autosomal dominant inheritance
OMIM:613751	ACVR2B	93	HP:0001629	Ventricular septal defect
OMIM:613751	ACVR2B	93	HP:0001651	Dextrocardia
OMIM:613751	ACVR2B	93	HP:0006695	Atrioventricular canal defect
OMIM:168601	FBXO7	25793	HP:0002063	Rigidity
OMIM:168601	FBXO7	25793	HP:0001268	Mental deterioration
OMIM:168601	FBXO7	25793	HP:0001332	Dystonia
OMIM:168601	FBXO7	25793	HP:0000012	Urinary urgency
OMIM:168601	FBXO7	25793	HP:0002067	Bradykinesia
OMIM:168601	FBXO7	25793	HP:0001300	Parkinsonism
OMIM:168601	FBXO7	25793	HP:0002360	Sleep disturbance
OMIM:168601	FBXO7	25793	HP:0001336	Myoclonus
OMIM:168601	FBXO7	25793	HP:0002015	Dysphagia
OMIM:168601	FBXO7	25793	HP:0001260	Dysarthria
OMIM:168601	FBXO7	25793	HP:0002172	Postural instability
OMIM:168601	GBA	2629	HP:0002063	Rigidity
OMIM:168601	GBA	2629	HP:0001268	Mental deterioration
OMIM:168601	GBA	2629	HP:0001332	Dystonia
OMIM:168601	GBA	2629	HP:0000012	Urinary urgency
OMIM:168601	GBA	2629	HP:0002067	Bradykinesia
OMIM:168601	GBA	2629	HP:0001300	Parkinsonism
OMIM:168601	GBA	2629	HP:0002360	Sleep disturbance
OMIM:168601	GBA	2629	HP:0001336	Myoclonus
OMIM:168601	GBA	2629	HP:0002015	Dysphagia
OMIM:168601	GBA	2629	HP:0001260	Dysarthria
OMIM:168601	GBA	2629	HP:0002172	Postural instability
OMIM:168601	DNAJC13	23317	HP:0002063	Rigidity
OMIM:168601	DNAJC13	23317	HP:0001268	Mental deterioration
OMIM:168601	DNAJC13	23317	HP:0001332	Dystonia
OMIM:168601	DNAJC13	23317	HP:0000012	Urinary urgency
OMIM:168601	DNAJC13	23317	HP:0002067	Bradykinesia
OMIM:168601	DNAJC13	23317	HP:0001300	Parkinsonism
OMIM:168601	DNAJC13	23317	HP:0002360	Sleep disturbance
OMIM:168601	DNAJC13	23317	HP:0001336	Myoclonus
OMIM:168601	DNAJC13	23317	HP:0002015	Dysphagia
OMIM:168601	DNAJC13	23317	HP:0001260	Dysarthria
OMIM:168601	DNAJC13	23317	HP:0002172	Postural instability
OMIM:168601	VPS35	55737	HP:0002063	Rigidity
OMIM:168601	VPS35	55737	HP:0001268	Mental deterioration
OMIM:168601	VPS35	55737	HP:0001332	Dystonia
OMIM:168601	VPS35	55737	HP:0000012	Urinary urgency
OMIM:168601	VPS35	55737	HP:0002067	Bradykinesia
OMIM:168601	VPS35	55737	HP:0001300	Parkinsonism
OMIM:168601	VPS35	55737	HP:0002360	Sleep disturbance
OMIM:168601	VPS35	55737	HP:0001336	Myoclonus
OMIM:168601	VPS35	55737	HP:0002015	Dysphagia
OMIM:168601	VPS35	55737	HP:0001260	Dysarthria
OMIM:168601	VPS35	55737	HP:0002172	Postural instability
OMIM:168601	GIGYF2	26058	HP:0002063	Rigidity
OMIM:168601	GIGYF2	26058	HP:0001268	Mental deterioration
OMIM:168601	GIGYF2	26058	HP:0001332	Dystonia
OMIM:168601	GIGYF2	26058	HP:0000012	Urinary urgency
OMIM:168601	GIGYF2	26058	HP:0002067	Bradykinesia
OMIM:168601	GIGYF2	26058	HP:0001300	Parkinsonism
OMIM:168601	GIGYF2	26058	HP:0002360	Sleep disturbance
OMIM:168601	GIGYF2	26058	HP:0001336	Myoclonus
OMIM:168601	GIGYF2	26058	HP:0002015	Dysphagia
OMIM:168601	GIGYF2	26058	HP:0001260	Dysarthria
OMIM:168601	GIGYF2	26058	HP:0002172	Postural instability
OMIM:168601	LRRK2	120892	HP:0002063	Rigidity
OMIM:168601	LRRK2	120892	HP:0001268	Mental deterioration
OMIM:168601	LRRK2	120892	HP:0001332	Dystonia
OMIM:168601	LRRK2	120892	HP:0000012	Urinary urgency
OMIM:168601	LRRK2	120892	HP:0002067	Bradykinesia
OMIM:168601	LRRK2	120892	HP:0001300	Parkinsonism
OMIM:168601	LRRK2	120892	HP:0002360	Sleep disturbance
OMIM:168601	LRRK2	120892	HP:0001336	Myoclonus
OMIM:168601	LRRK2	120892	HP:0002015	Dysphagia
OMIM:168601	LRRK2	120892	HP:0001260	Dysarthria
OMIM:168601	LRRK2	120892	HP:0002172	Postural instability
OMIM:168601	EIF4G1	1981	HP:0002063	Rigidity
OMIM:168601	EIF4G1	1981	HP:0001268	Mental deterioration
OMIM:168601	EIF4G1	1981	HP:0001332	Dystonia
OMIM:168601	EIF4G1	1981	HP:0000012	Urinary urgency
OMIM:168601	EIF4G1	1981	HP:0002067	Bradykinesia
OMIM:168601	EIF4G1	1981	HP:0001300	Parkinsonism
OMIM:168601	EIF4G1	1981	HP:0002360	Sleep disturbance
OMIM:168601	EIF4G1	1981	HP:0001336	Myoclonus
OMIM:168601	EIF4G1	1981	HP:0002015	Dysphagia
OMIM:168601	EIF4G1	1981	HP:0001260	Dysarthria
OMIM:168601	EIF4G1	1981	HP:0002172	Postural instability
OMIM:168601	SNCA	6622	HP:0002063	Rigidity
OMIM:168601	SNCA	6622	HP:0001268	Mental deterioration
OMIM:168601	SNCA	6622	HP:0001332	Dystonia
OMIM:168601	SNCA	6622	HP:0000012	Urinary urgency
OMIM:168601	SNCA	6622	HP:0002067	Bradykinesia
OMIM:168601	SNCA	6622	HP:0001300	Parkinsonism
OMIM:168601	SNCA	6622	HP:0002360	Sleep disturbance
OMIM:168601	SNCA	6622	HP:0001336	Myoclonus
OMIM:168601	SNCA	6622	HP:0002015	Dysphagia
OMIM:168601	SNCA	6622	HP:0001260	Dysarthria
OMIM:168601	SNCA	6622	HP:0002172	Postural instability
OMIM:615402	ABCB6	10058	HP:0000006	Autosomal dominant inheritance
OMIM:610377	MVK	4598	HP:0000592	Blue sclerae
OMIM:610377	MVK	4598	HP:0002829	Arthralgia
OMIM:610377	MVK	4598	HP:0000639	Nystagmus
OMIM:610377	MVK	4598	HP:0001252	Muscular hypotonia
OMIM:610377	MVK	4598	HP:0000988	Skin rash
OMIM:610377	MVK	4598	HP:0000358	Posteriorly rotated ears
OMIM:610377	MVK	4598	HP:0000007	Autosomal recessive inheritance
OMIM:610377	MVK	4598	HP:0002013	Vomiting
OMIM:610377	MVK	4598	HP:0000369	Low-set ears
OMIM:610377	MVK	4598	HP:0000518	Cataract
OMIM:610377	MVK	4598	HP:0000239	Large fontanelles
OMIM:610377	MVK	4598	HP:0000252	Microcephaly
OMIM:610377	MVK	4598	HP:0000325	Triangular face
OMIM:610377	MVK	4598	HP:0001250	Seizures
OMIM:610377	MVK	4598	HP:0002014	Diarrhea
OMIM:610377	MVK	4598	HP:0002059	Cerebral atrophy
OMIM:610377	MVK	4598	HP:0002750	Delayed skeletal maturation
OMIM:610377	MVK	4598	HP:0002120	Cerebral cortical atrophy
OMIM:610377	MVK	4598	HP:0002910	Elevated hepatic transaminases
OMIM:610377	MVK	4598	HP:0000368	Low-set, posteriorly rotated ears
OMIM:610377	MVK	4598	HP:0001263	Global developmental delay
OMIM:610377	MVK	4598	HP:0012072	Aciduria
OMIM:610377	MVK	4598	HP:0001508	Failure to thrive
OMIM:610377	MVK	4598	HP:0000268	Dolichocephaly
OMIM:610377	MVK	4598	HP:0001974	Leukocytosis
OMIM:610377	MVK	4598	HP:0000494	Downslanted palpebral fissures
OMIM:610377	MVK	4598	HP:0001744	Splenomegaly
OMIM:610377	MVK	4598	HP:0003236	Elevated serum creatine phosphokinase
OMIM:610377	MVK	4598	HP:0001873	Thrombocytopenia
OMIM:610377	MVK	4598	HP:0004322	Short stature
OMIM:610377	MVK	4598	HP:0000969	Edema
OMIM:610377	MVK	4598	HP:0001272	Cerebellar atrophy
OMIM:610377	MVK	4598	HP:0002335	Agenesis of cerebellar vermis
OMIM:610377	MVK	4598	HP:0002751	Kyphoscoliosis
OMIM:610377	MVK	4598	HP:0002311	Incoordination
OMIM:610377	MVK	4598	HP:0100543	Cognitive impairment
OMIM:610377	MVK	4598	HP:0002716	Lymphadenopathy
OMIM:608615	AXIN2	8313	HP:0000006	Autosomal dominant inheritance
OMIM:608615	AXIN2	8313	HP:0002209	Sparse scalp hair
OMIM:601494	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:601494	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:601494	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:601494	TPM1	7168	HP:0001699	Sudden death
OMIM:601494	TPM1	7168	HP:0005110	Atrial fibrillation
OMIM:601494	TPM1	7168	HP:0001712	Left ventricular hypertrophy
OMIM:601494	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:601494	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:601494	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:601494	CRYAB	1410	HP:0001699	Sudden death
OMIM:601494	CRYAB	1410	HP:0005110	Atrial fibrillation
OMIM:601494	CRYAB	1410	HP:0001712	Left ventricular hypertrophy
OMIM:601494	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:601494	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:601494	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:601494	ACTC1	70	HP:0001699	Sudden death
OMIM:601494	ACTC1	70	HP:0005110	Atrial fibrillation
OMIM:601494	ACTC1	70	HP:0001712	Left ventricular hypertrophy
OMIM:601494	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:601494	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:601494	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:601494	RAF1	5894	HP:0001699	Sudden death
OMIM:601494	RAF1	5894	HP:0005110	Atrial fibrillation
OMIM:601494	RAF1	5894	HP:0001712	Left ventricular hypertrophy
OMIM:601494	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:601494	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:601494	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:601494	GATAD1	57798	HP:0001699	Sudden death
OMIM:601494	GATAD1	57798	HP:0005110	Atrial fibrillation
OMIM:601494	GATAD1	57798	HP:0001712	Left ventricular hypertrophy
OMIM:601494	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:601494	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:601494	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:601494	LAMA4	3910	HP:0001699	Sudden death
OMIM:601494	LAMA4	3910	HP:0005110	Atrial fibrillation
OMIM:601494	LAMA4	3910	HP:0001712	Left ventricular hypertrophy
OMIM:601494	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:601494	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:601494	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:601494	TMPO	7112	HP:0001699	Sudden death
OMIM:601494	TMPO	7112	HP:0005110	Atrial fibrillation
OMIM:601494	TMPO	7112	HP:0001712	Left ventricular hypertrophy
OMIM:601494	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:601494	DES	1674	HP:0001635	Congestive heart failure
OMIM:601494	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:601494	DES	1674	HP:0001699	Sudden death
OMIM:601494	DES	1674	HP:0005110	Atrial fibrillation
OMIM:601494	DES	1674	HP:0001712	Left ventricular hypertrophy
OMIM:601494	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:601494	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:601494	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:601494	ABCC9	10060	HP:0001699	Sudden death
OMIM:601494	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:601494	ABCC9	10060	HP:0001712	Left ventricular hypertrophy
OMIM:601494	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:601494	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:601494	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:601494	MYH6	4624	HP:0001699	Sudden death
OMIM:601494	MYH6	4624	HP:0005110	Atrial fibrillation
OMIM:601494	MYH6	4624	HP:0001712	Left ventricular hypertrophy
OMIM:601494	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:601494	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:601494	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:601494	MYH7	4625	HP:0001699	Sudden death
OMIM:601494	MYH7	4625	HP:0005110	Atrial fibrillation
OMIM:601494	MYH7	4625	HP:0001712	Left ventricular hypertrophy
OMIM:601494	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:601494	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:601494	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:601494	LDB3	11155	HP:0001699	Sudden death
OMIM:601494	LDB3	11155	HP:0005110	Atrial fibrillation
OMIM:601494	LDB3	11155	HP:0001712	Left ventricular hypertrophy
OMIM:601494	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:601494	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:601494	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:601494	ACTN2	88	HP:0001699	Sudden death
OMIM:601494	ACTN2	88	HP:0005110	Atrial fibrillation
OMIM:601494	ACTN2	88	HP:0001712	Left ventricular hypertrophy
OMIM:601494	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:601494	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:601494	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:601494	TXNRD2	10587	HP:0001699	Sudden death
OMIM:601494	TXNRD2	10587	HP:0005110	Atrial fibrillation
OMIM:601494	TXNRD2	10587	HP:0001712	Left ventricular hypertrophy
OMIM:601494	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:601494	DMD	1756	HP:0001635	Congestive heart failure
OMIM:601494	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:601494	DMD	1756	HP:0001699	Sudden death
OMIM:601494	DMD	1756	HP:0005110	Atrial fibrillation
OMIM:601494	DMD	1756	HP:0001712	Left ventricular hypertrophy
OMIM:601494	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:601494	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:601494	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:601494	TNNC1	7134	HP:0001699	Sudden death
OMIM:601494	TNNC1	7134	HP:0005110	Atrial fibrillation
OMIM:601494	TNNC1	7134	HP:0001712	Left ventricular hypertrophy
OMIM:601494	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:601494	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:601494	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:601494	PSEN1	5663	HP:0001699	Sudden death
OMIM:601494	PSEN1	5663	HP:0005110	Atrial fibrillation
OMIM:601494	PSEN1	5663	HP:0001712	Left ventricular hypertrophy
OMIM:601494	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:601494	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:601494	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:601494	LMNA	4000	HP:0001699	Sudden death
OMIM:601494	LMNA	4000	HP:0005110	Atrial fibrillation
OMIM:601494	LMNA	4000	HP:0001712	Left ventricular hypertrophy
OMIM:601494	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:601494	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:601494	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:601494	PSEN2	5664	HP:0001699	Sudden death
OMIM:601494	PSEN2	5664	HP:0005110	Atrial fibrillation
OMIM:601494	PSEN2	5664	HP:0001712	Left ventricular hypertrophy
OMIM:601494	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:601494	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:601494	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:601494	TNNI3	7137	HP:0001699	Sudden death
OMIM:601494	TNNI3	7137	HP:0005110	Atrial fibrillation
OMIM:601494	TNNI3	7137	HP:0001712	Left ventricular hypertrophy
OMIM:601494	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:601494	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:601494	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:601494	FHL2	2274	HP:0001699	Sudden death
OMIM:601494	FHL2	2274	HP:0005110	Atrial fibrillation
OMIM:601494	FHL2	2274	HP:0001712	Left ventricular hypertrophy
OMIM:601494	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:601494	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:601494	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:601494	TNNT2	7139	HP:0001699	Sudden death
OMIM:601494	TNNT2	7139	HP:0005110	Atrial fibrillation
OMIM:601494	TNNT2	7139	HP:0001712	Left ventricular hypertrophy
OMIM:601494	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:601494	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:601494	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:601494	DSG2	1829	HP:0001699	Sudden death
OMIM:601494	DSG2	1829	HP:0005110	Atrial fibrillation
OMIM:601494	DSG2	1829	HP:0001712	Left ventricular hypertrophy
OMIM:601494	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:601494	PLN	5350	HP:0001635	Congestive heart failure
OMIM:601494	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:601494	PLN	5350	HP:0001699	Sudden death
OMIM:601494	PLN	5350	HP:0005110	Atrial fibrillation
OMIM:601494	PLN	5350	HP:0001712	Left ventricular hypertrophy
OMIM:601494	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:601494	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:601494	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:601494	PRDM16	63976	HP:0001699	Sudden death
OMIM:601494	PRDM16	63976	HP:0005110	Atrial fibrillation
OMIM:601494	PRDM16	63976	HP:0001712	Left ventricular hypertrophy
OMIM:601494	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:601494	TTN	7273	HP:0001635	Congestive heart failure
OMIM:601494	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:601494	TTN	7273	HP:0001699	Sudden death
OMIM:601494	TTN	7273	HP:0005110	Atrial fibrillation
OMIM:601494	TTN	7273	HP:0001712	Left ventricular hypertrophy
OMIM:601494	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:601494	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:601494	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:601494	NEXN	91624	HP:0001699	Sudden death
OMIM:601494	NEXN	91624	HP:0005110	Atrial fibrillation
OMIM:601494	NEXN	91624	HP:0001712	Left ventricular hypertrophy
OMIM:601494	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:601494	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:601494	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:601494	FKTN	2218	HP:0001699	Sudden death
OMIM:601494	FKTN	2218	HP:0005110	Atrial fibrillation
OMIM:601494	FKTN	2218	HP:0001712	Left ventricular hypertrophy
OMIM:601494	MYH7B	57644	HP:0000006	Autosomal dominant inheritance
OMIM:601494	MYH7B	57644	HP:0001635	Congestive heart failure
OMIM:601494	MYH7B	57644	HP:0001644	Dilated cardiomyopathy
OMIM:601494	MYH7B	57644	HP:0001699	Sudden death
OMIM:601494	MYH7B	57644	HP:0005110	Atrial fibrillation
OMIM:601494	MYH7B	57644	HP:0001712	Left ventricular hypertrophy
OMIM:601494	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:601494	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:601494	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:601494	SGCD	6444	HP:0001699	Sudden death
OMIM:601494	SGCD	6444	HP:0005110	Atrial fibrillation
OMIM:601494	SGCD	6444	HP:0001712	Left ventricular hypertrophy
OMIM:601494	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:601494	DTNA	1837	HP:0001635	Congestive heart failure
OMIM:601494	DTNA	1837	HP:0001644	Dilated cardiomyopathy
OMIM:601494	DTNA	1837	HP:0001699	Sudden death
OMIM:601494	DTNA	1837	HP:0005110	Atrial fibrillation
OMIM:601494	DTNA	1837	HP:0001712	Left ventricular hypertrophy
OMIM:601494	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:601494	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:601494	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:601494	TCAP	8557	HP:0001699	Sudden death
OMIM:601494	TCAP	8557	HP:0005110	Atrial fibrillation
OMIM:601494	TCAP	8557	HP:0001712	Left ventricular hypertrophy
OMIM:601494	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:601494	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:601494	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:601494	CSRP3	8048	HP:0001699	Sudden death
OMIM:601494	CSRP3	8048	HP:0005110	Atrial fibrillation
OMIM:601494	CSRP3	8048	HP:0001712	Left ventricular hypertrophy
OMIM:601494	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:601494	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:601494	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:601494	RBM20	282996	HP:0001699	Sudden death
OMIM:601494	RBM20	282996	HP:0005110	Atrial fibrillation
OMIM:601494	RBM20	282996	HP:0001712	Left ventricular hypertrophy
OMIM:601494	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:601494	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:601494	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:601494	TAZ	6901	HP:0001699	Sudden death
OMIM:601494	TAZ	6901	HP:0005110	Atrial fibrillation
OMIM:601494	TAZ	6901	HP:0001712	Left ventricular hypertrophy
OMIM:601494	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:601494	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:601494	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:601494	SDHA	6389	HP:0001699	Sudden death
OMIM:601494	SDHA	6389	HP:0005110	Atrial fibrillation
OMIM:601494	SDHA	6389	HP:0001712	Left ventricular hypertrophy
OMIM:601494	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:601494	VCL	7414	HP:0001635	Congestive heart failure
OMIM:601494	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:601494	VCL	7414	HP:0001699	Sudden death
OMIM:601494	VCL	7414	HP:0005110	Atrial fibrillation
OMIM:601494	VCL	7414	HP:0001712	Left ventricular hypertrophy
OMIM:601494	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:601494	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:601494	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:601494	MYPN	84665	HP:0001699	Sudden death
OMIM:601494	MYPN	84665	HP:0005110	Atrial fibrillation
OMIM:601494	MYPN	84665	HP:0001712	Left ventricular hypertrophy
OMIM:601494	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:601494	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:601494	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:601494	SCN5A	6331	HP:0001699	Sudden death
OMIM:601494	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:601494	SCN5A	6331	HP:0001712	Left ventricular hypertrophy
OMIM:601494	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:601494	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:601494	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:601494	BAG3	9531	HP:0001699	Sudden death
OMIM:601494	BAG3	9531	HP:0005110	Atrial fibrillation
OMIM:601494	BAG3	9531	HP:0001712	Left ventricular hypertrophy
OMIM:601494	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:601494	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:601494	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:601494	DOLK	22845	HP:0001699	Sudden death
OMIM:601494	DOLK	22845	HP:0005110	Atrial fibrillation
OMIM:601494	DOLK	22845	HP:0001712	Left ventricular hypertrophy
OMIM:601494	MIB1	57534	HP:0000006	Autosomal dominant inheritance
OMIM:601494	MIB1	57534	HP:0001635	Congestive heart failure
OMIM:601494	MIB1	57534	HP:0001644	Dilated cardiomyopathy
OMIM:601494	MIB1	57534	HP:0001699	Sudden death
OMIM:601494	MIB1	57534	HP:0005110	Atrial fibrillation
OMIM:601494	MIB1	57534	HP:0001712	Left ventricular hypertrophy
OMIM:601494	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:601494	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:601494	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:601494	MYBPC3	4607	HP:0001699	Sudden death
OMIM:601494	MYBPC3	4607	HP:0005110	Atrial fibrillation
OMIM:601494	MYBPC3	4607	HP:0001712	Left ventricular hypertrophy
OMIM:305350	TMC8	147138	HP:0001417	X-linked inheritance
OMIM:305350	TMC8	147138	HP:0200043	Verrucae
OMIM:305350	TMC6	11322	HP:0001417	X-linked inheritance
OMIM:305350	TMC6	11322	HP:0200043	Verrucae
OMIM:607196	SLC25A19	60386	HP:0000007	Autosomal recessive inheritance
OMIM:607196	SLC25A19	60386	HP:0001376	Limitation of joint mobility
OMIM:607196	SLC25A19	60386	HP:0100543	Cognitive impairment
OMIM:607196	SLC25A19	60386	HP:0002119	Ventriculomegaly
OMIM:607196	SLC25A19	60386	HP:0000340	Sloping forehead
OMIM:607196	SLC25A19	60386	HP:0000347	Micrognathia
OMIM:607196	SLC25A19	60386	HP:0004331	Decreased skull ossification
OMIM:607196	SLC25A19	60386	HP:0002269	Abnormality of neuronal migration
OMIM:607196	SLC25A19	60386	HP:0000708	Behavioral abnormality
OMIM:607196	SLC25A19	60386	HP:0000737	Irritability
OMIM:607196	SLC25A19	60386	HP:0002240	Hepatomegaly
OMIM:607196	SLC25A19	60386	HP:0001276	Hypertonia
OMIM:607196	SLC25A19	60386	HP:0000253	Progressive microcephaly
OMIM:607196	SLC25A19	60386	HP:0001252	Muscular hypotonia
OMIM:607196	SLC25A19	60386	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:607196	SLC25A19	60386	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:607196	SLC25A19	60386	HP:0001338	Partial agenesis of the corpus callosum
OMIM:607196	SLC25A19	60386	HP:0001321	Cerebellar hypoplasia
OMIM:607196	SLC25A19	60386	HP:0001557	Prenatal movement abnormality
OMIM:607196	SLC25A19	60386	HP:0000648	Optic atrophy
OMIM:607196	SLC25A19	60386	HP:0002414	Spina bifida
OMIM:607196	SLC25A19	60386	HP:0002509	Limb hypertonia
OMIM:607196	SLC25A19	60386	HP:0100736	Abnormality of the soft palate
OMIM:607196	SLC25A19	60386	HP:0003128	Lactic acidosis
OMIM:607196	SLC25A19	60386	HP:0000252	Microcephaly
OMIM:607196	SLC25A19	60386	HP:0001371	Flexion contracture
OMIM:607196	SLC25A19	60386	HP:0001250	Seizures
OMIM:607196	SLC25A19	60386	HP:0004349	Reduced bone mineral density
OMIM:607196	SLC25A19	60386	HP:0008936	Muscular hypotonia of the trunk
OMIM:607196	SLC25A19	60386	HP:0003577	Congenital onset
OMIM:135300	SOS1	6654	HP:0000169	Gingival fibromatosis
OMIM:135300	SOS1	6654	HP:0000006	Autosomal dominant inheritance
OMIM:101000	NF2	4771	HP:0002315	Headache
OMIM:101000	NF2	4771	HP:0002076	Migraine
OMIM:101000	NF2	4771	HP:0008069	Neoplasm of the skin
OMIM:101000	NF2	4771	HP:0009733	Glioma
OMIM:101000	NF2	4771	HP:0000006	Autosomal dominant inheritance
OMIM:101000	NF2	4771	HP:0000407	Sensorineural hearing impairment
OMIM:101000	NF2	4771	HP:0001251	Ataxia
OMIM:101000	NF2	4771	HP:0008046	Abnormality of the retinal vasculature
OMIM:101000	NF2	4771	HP:0000360	Tinnitus
OMIM:101000	NF2	4771	HP:0001288	Gait disturbance
OMIM:101000	NF2	4771	HP:0002311	Incoordination
OMIM:101000	NF2	4771	HP:0000505	Visual impairment
OMIM:101000	NF2	4771	HP:0000957	Cafe-au-lait spot
OMIM:101000	NF2	4771	HP:0009592	Astrocytoma
OMIM:101000	NF2	4771	HP:0002321	Vertigo
OMIM:101000	NF2	4771	HP:0000518	Cataract
OMIM:101000	NF2	4771	HP:0009830	Peripheral neuropathy
OMIM:101000	NF2	4771	HP:0007759	Opacification of the corneal stroma
OMIM:101000	NF2	4771	HP:0002858	Meningioma
OMIM:101000	NF2	4771	HP:0000365	Hearing impairment
OMIM:101000	NF2	4771	HP:0010628	Facial palsy
OMIM:101000	NF2	4771	HP:0002888	Ependymoma
OMIM:256550	NEU1	4758	HP:0002167	Neurological speech impairment
OMIM:256550	NEU1	4758	HP:0100790	Hernia
OMIM:256550	NEU1	4758	HP:0001252	Muscular hypotonia
OMIM:256550	NEU1	4758	HP:0003355	Aminoaciduria
OMIM:256550	NEU1	4758	HP:0100543	Cognitive impairment
OMIM:256550	NEU1	4758	HP:0003202	Skeletal muscle atrophy
OMIM:256550	NEU1	4758	HP:0000962	Hyperkeratosis
OMIM:256550	NEU1	4758	HP:0004322	Short stature
OMIM:256550	NEU1	4758	HP:0001250	Seizures
OMIM:256550	NEU1	4758	HP:0001744	Splenomegaly
OMIM:256550	NEU1	4758	HP:0000488	Retinopathy
OMIM:256550	NEU1	4758	HP:0000518	Cataract
OMIM:256550	NEU1	4758	HP:0001789	Hydrops fetalis
OMIM:256550	NEU1	4758	HP:0001324	Muscle weakness
OMIM:256550	NEU1	4758	HP:0002650	Scoliosis
OMIM:256550	NEU1	4758	HP:0001640	Cardiomegaly
OMIM:256550	NEU1	4758	HP:0001310	Dysmetria
OMIM:256550	NEU1	4758	HP:0001288	Gait disturbance
OMIM:256550	NEU1	4758	HP:0002311	Incoordination
OMIM:256550	NEU1	4758	HP:0002750	Delayed skeletal maturation
OMIM:256550	NEU1	4758	HP:0010306	Short thorax
OMIM:256550	NEU1	4758	HP:0002808	Kyphosis
OMIM:256550	NEU1	4758	HP:0000282	Facial edema
OMIM:256550	NEU1	4758	HP:0001249	Intellectual disability
OMIM:256550	NEU1	4758	HP:0001103	Abnormality of the macula
OMIM:256550	NEU1	4758	HP:0000768	Pectus carinatum
OMIM:256550	NEU1	4758	HP:0000943	Dysostosis multiplex
OMIM:256550	NEU1	4758	HP:0000179	Thick lower lip vermilion
OMIM:256550	NEU1	4758	HP:0000529	Progressive visual loss
OMIM:256550	NEU1	4758	HP:0007759	Opacification of the corneal stroma
OMIM:256550	NEU1	4758	HP:0000407	Sensorineural hearing impairment
OMIM:256550	NEU1	4758	HP:0001336	Myoclonus
OMIM:256550	NEU1	4758	HP:0001347	Hyperreflexia
OMIM:256550	NEU1	4758	HP:0000023	Inguinal hernia
OMIM:256550	NEU1	4758	HP:0003312	Abnormal form of the vertebral bodies
OMIM:256550	NEU1	4758	HP:0002353	EEG abnormality
OMIM:256550	NEU1	4758	HP:0000639	Nystagmus
OMIM:256550	NEU1	4758	HP:0002652	Skeletal dysplasia
OMIM:256550	NEU1	4758	HP:0001638	Cardiomyopathy
OMIM:256550	NEU1	4758	HP:0000007	Autosomal recessive inheritance
OMIM:256550	NEU1	4758	HP:0001337	Tremor
OMIM:256550	NEU1	4758	HP:0001541	Ascites
OMIM:256550	NEU1	4758	HP:0000093	Proteinuria
OMIM:256550	NEU1	4758	HP:0002007	Frontal bossing
OMIM:256550	NEU1	4758	HP:0002011	Morphological abnormality of the central nervous system
OMIM:256550	NEU1	4758	HP:0010655	Epiphyseal stippling
OMIM:256550	NEU1	4758	HP:0000280	Coarse facial features
OMIM:256550	NEU1	4758	HP:0000505	Visual impairment
OMIM:256550	NEU1	4758	HP:0000762	Decreased nerve conduction velocity
OMIM:256550	NEU1	4758	HP:0002240	Hepatomegaly
OMIM:256550	NEU1	4758	HP:0000431	Wide nasal bridge
OMIM:222765	GNPAT	8443	HP:0000347	Micrognathia
OMIM:222765	GNPAT	8443	HP:0000431	Wide nasal bridge
OMIM:222765	GNPAT	8443	HP:0000463	Anteverted nares
OMIM:222765	GNPAT	8443	HP:0003301	Irregular vertebral endplates
OMIM:222765	GNPAT	8443	HP:0008905	Rhizomelia
OMIM:222765	GNPAT	8443	HP:0000252	Microcephaly
OMIM:222765	GNPAT	8443	HP:0000348	High forehead
OMIM:222765	GNPAT	8443	HP:0001371	Flexion contracture
OMIM:222765	GNPAT	8443	HP:0000007	Autosomal recessive inheritance
OMIM:222765	GNPAT	8443	HP:0005280	Depressed nasal bridge
OMIM:222765	GNPAT	8443	HP:0002650	Scoliosis
OMIM:222765	GNPAT	8443	HP:0005792	Short humerus
OMIM:222765	GNPAT	8443	HP:0000938	Osteopenia
OMIM:222765	GNPAT	8443	HP:0001252	Muscular hypotonia
OMIM:222765	GNPAT	8443	HP:0001249	Intellectual disability
OMIM:222765	GNPAT	8443	HP:0000239	Large fontanelles
OMIM:222765	GNPAT	8443	HP:0000518	Cataract
OMIM:222765	GNPAT	8443	HP:0001508	Failure to thrive
OMIM:222765	GNPAT	8443	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:222765	GNPAT	8443	HP:0000218	High palate
OMIM:613779	C3	718	HP:0005421	Decreased serum complement C3
OMIM:613779	C3	718	HP:0000083	Renal insufficiency
OMIM:613779	C3	718	HP:0000007	Autosomal recessive inheritance
OMIM:613779	C3	718	HP:0002718	Recurrent bacterial infections
OMIM:613779	C3	718	HP:0000100	Nephrotic syndrome
OMIM:602361	FAM111A	63901	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:602361	FAM111A	63901	HP:0002983	Micromelia
OMIM:602361	FAM111A	63901	HP:0000612	Iris coloboma
OMIM:602361	FAM111A	63901	HP:0002240	Hepatomegaly
OMIM:602361	FAM111A	63901	HP:0001156	Brachydactyly syndrome
OMIM:602361	FAM111A	63901	HP:0000368	Low-set, posteriorly rotated ears
OMIM:602361	FAM111A	63901	HP:0004331	Decreased skull ossification
OMIM:602361	FAM111A	63901	HP:0004348	Abnormality of bone mineral density
OMIM:602361	FAM111A	63901	HP:0008678	Renal hypoplasia/aplasia
OMIM:602361	FAM111A	63901	HP:0011220	Prominent forehead
OMIM:602361	FAM111A	63901	HP:0000431	Wide nasal bridge
OMIM:602361	FAM111A	63901	HP:0001541	Ascites
OMIM:602361	FAM111A	63901	HP:0000592	Blue sclerae
OMIM:602361	FAM111A	63901	HP:0009882	Short distal phalanx of finger
OMIM:602361	FAM111A	63901	HP:0003015	Flared metaphysis
OMIM:602361	FAM111A	63901	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:602361	FAM111A	63901	HP:0000006	Autosomal dominant inheritance
OMIM:602361	FAM111A	63901	HP:0000160	Narrow mouth
OMIM:602361	FAM111A	63901	HP:0100627	Displacement of the external urethral meatus
OMIM:602361	FAM111A	63901	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:602361	FAM111A	63901	HP:0000889	Abnormality of the clavicle
OMIM:602361	FAM111A	63901	HP:0010515	Aplasia/Hypoplasia of the thymus
OMIM:602361	FAM111A	63901	HP:0003196	Short nose
OMIM:602361	FAM111A	63901	HP:0000581	Blepharophimosis
OMIM:602361	FAM111A	63901	HP:0005280	Depressed nasal bridge
OMIM:602361	FAM111A	63901	HP:0000944	Abnormality of the metaphyses
OMIM:602361	FAM111A	63901	HP:0002901	Hypocalcemia
OMIM:602361	FAM111A	63901	HP:0002652	Skeletal dysplasia
OMIM:602361	FAM111A	63901	HP:0008736	Hypoplasia of penis
OMIM:602361	FAM111A	63901	HP:0001250	Seizures
OMIM:602361	FAM111A	63901	HP:0000272	Malar flattening
OMIM:602361	FAM111A	63901	HP:0002007	Frontal bossing
OMIM:602361	FAM111A	63901	HP:0000518	Cataract
OMIM:602361	FAM111A	63901	HP:0003100	Slender long bone
OMIM:602361	FAM111A	63901	HP:0001838	Rocker bottom foot
OMIM:602361	FAM111A	63901	HP:0001562	Oligohydramnios
OMIM:602361	FAM111A	63901	HP:0001511	Intrauterine growth retardation
OMIM:602361	FAM111A	63901	HP:0000238	Hydrocephalus
OMIM:602361	FAM111A	63901	HP:0000054	Micropenis
OMIM:602361	FAM111A	63901	HP:0010804	Tented upper lip vermilion
OMIM:602361	FAM111A	63901	HP:0009924	Aplasia/Hypoplasia involving the nose
OMIM:602361	FAM111A	63901	HP:0001831	Short toe
OMIM:602361	FAM111A	63901	HP:0000482	Microcornea
OMIM:602361	FAM111A	63901	HP:0004322	Short stature
OMIM:602361	FAM111A	63901	HP:0000463	Anteverted nares
OMIM:602361	FAM111A	63901	HP:0000926	Platyspondyly
OMIM:602361	FAM111A	63901	HP:0001163	Abnormality of the metacarpal bones
OMIM:602361	FAM111A	63901	HP:0100625	Enlarged thorax
OMIM:602361	FAM111A	63901	HP:0010296	Ankyloglossia
OMIM:602361	FAM111A	63901	HP:0000568	Microphthalmia
OMIM:602361	FAM111A	63901	HP:0000175	Cleft palate
OMIM:602361	FAM111A	63901	HP:0001252	Muscular hypotonia
OMIM:602361	FAM111A	63901	HP:0000772	Abnormality of the ribs
OMIM:602361	FAM111A	63901	HP:0002269	Abnormality of neuronal migration
OMIM:602361	FAM111A	63901	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:602361	FAM111A	63901	HP:0000028	Cryptorchidism
OMIM:602361	FAM111A	63901	HP:0001182	Tapered finger
OMIM:602361	FAM111A	63901	HP:0001263	Global developmental delay
OMIM:602361	FAM111A	63901	HP:0001743	Abnormality of the spleen
OMIM:602361	FAM111A	63901	HP:0011039	Abnormality of the helix
OMIM:602361	FAM111A	63901	HP:0002757	Recurrent fractures
OMIM:602361	FAM111A	63901	HP:0001231	Abnormality of the fingernails
OMIM:602361	FAM111A	63901	HP:0000322	Short philtrum
OMIM:602361	FAM111A	63901	HP:0001508	Failure to thrive
OMIM:602361	FAM111A	63901	HP:0000316	Hypertelorism
OMIM:602361	FAM111A	63901	HP:0000582	Upslanted palpebral fissure
OMIM:602361	FAM111A	63901	HP:0000601	Hypotelorism
OMIM:602361	FAM111A	63901	HP:0002093	Respiratory insufficiency
OMIM:602361	FAM111A	63901	HP:0006487	Bowing of the long bones
OMIM:602361	FAM111A	63901	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:120200	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:120200	PAX6	5080	HP:0000006	Autosomal dominant inheritance
OMIM:120200	SALL2	6297	HP:0000006	Autosomal dominant inheritance
OMIM:120200	ABCB6	10058	HP:0000006	Autosomal dominant inheritance
OMIM:615147	RBP4	5950	HP:0000007	Autosomal recessive inheritance
OMIM:615147	RBP4	5950	HP:0000612	Iris coloboma
OMIM:615147	RBP4	5950	HP:0001643	Patent ductus arteriosus
OMIM:615147	RBP4	5950	HP:0007663	Reduced visual acuity
OMIM:615147	RBP4	5950	HP:0000482	Microcornea
OMIM:615147	RBP4	5950	HP:0000556	Retinal dystrophy
OMIM:615147	RBP4	5950	HP:0000505	Visual impairment
OMIM:615147	RBP4	5950	HP:0200070	Peripheral retinal atrophy
OMIM:613763	CRYAB	1410	HP:0000519	Congenital cataract
OMIM:613763	CRYAB	1410	HP:0001115	Posterior polar cataract
OMIM:613763	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:613763	CRYAB	1410	HP:0000556	Retinal dystrophy
OMIM:613763	CRYAB	1410	HP:0000007	Autosomal recessive inheritance
OMIM:613763	CHMP4B	128866	HP:0000519	Congenital cataract
OMIM:613763	CHMP4B	128866	HP:0001115	Posterior polar cataract
OMIM:613763	CHMP4B	128866	HP:0000006	Autosomal dominant inheritance
OMIM:613763	CHMP4B	128866	HP:0000556	Retinal dystrophy
OMIM:613763	CHMP4B	128866	HP:0000007	Autosomal recessive inheritance
OMIM:613763	CRYBA1	1411	HP:0000519	Congenital cataract
OMIM:613763	CRYBA1	1411	HP:0001115	Posterior polar cataract
OMIM:613763	CRYBA1	1411	HP:0000006	Autosomal dominant inheritance
OMIM:613763	CRYBA1	1411	HP:0000556	Retinal dystrophy
OMIM:613763	CRYBA1	1411	HP:0000007	Autosomal recessive inheritance
OMIM:613763	HSF4	3299	HP:0000519	Congenital cataract
OMIM:613763	HSF4	3299	HP:0001115	Posterior polar cataract
OMIM:613763	HSF4	3299	HP:0000006	Autosomal dominant inheritance
OMIM:613763	HSF4	3299	HP:0000556	Retinal dystrophy
OMIM:613763	HSF4	3299	HP:0000007	Autosomal recessive inheritance
OMIM:613763	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:613763	CRYBA2	1412	HP:0001115	Posterior polar cataract
OMIM:613763	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:613763	CRYBA2	1412	HP:0000556	Retinal dystrophy
OMIM:613763	CRYBA2	1412	HP:0000007	Autosomal recessive inheritance
OMIM:613763	CRYBA4	1413	HP:0000519	Congenital cataract
OMIM:613763	CRYBA4	1413	HP:0001115	Posterior polar cataract
OMIM:613763	CRYBA4	1413	HP:0000006	Autosomal dominant inheritance
OMIM:613763	CRYBA4	1413	HP:0000556	Retinal dystrophy
OMIM:613763	CRYBA4	1413	HP:0000007	Autosomal recessive inheritance
OMIM:613763	AGK	55750	HP:0000519	Congenital cataract
OMIM:613763	AGK	55750	HP:0001115	Posterior polar cataract
OMIM:613763	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:613763	AGK	55750	HP:0000556	Retinal dystrophy
OMIM:613763	AGK	55750	HP:0000007	Autosomal recessive inheritance
OMIM:613763	CRYGB	1419	HP:0000519	Congenital cataract
OMIM:613763	CRYGB	1419	HP:0001115	Posterior polar cataract
OMIM:613763	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:613763	CRYGB	1419	HP:0000556	Retinal dystrophy
OMIM:613763	CRYGB	1419	HP:0000007	Autosomal recessive inheritance
OMIM:613763	GJA3	2700	HP:0000519	Congenital cataract
OMIM:613763	GJA3	2700	HP:0001115	Posterior polar cataract
OMIM:613763	GJA3	2700	HP:0000006	Autosomal dominant inheritance
OMIM:613763	GJA3	2700	HP:0000556	Retinal dystrophy
OMIM:613763	GJA3	2700	HP:0000007	Autosomal recessive inheritance
OMIM:613763	CRYGC	1420	HP:0000519	Congenital cataract
OMIM:613763	CRYGC	1420	HP:0001115	Posterior polar cataract
OMIM:613763	CRYGC	1420	HP:0000006	Autosomal dominant inheritance
OMIM:613763	CRYGC	1420	HP:0000556	Retinal dystrophy
OMIM:613763	CRYGC	1420	HP:0000007	Autosomal recessive inheritance
OMIM:613763	EPHA2	1969	HP:0000519	Congenital cataract
OMIM:613763	EPHA2	1969	HP:0001115	Posterior polar cataract
OMIM:613763	EPHA2	1969	HP:0000006	Autosomal dominant inheritance
OMIM:613763	EPHA2	1969	HP:0000556	Retinal dystrophy
OMIM:613763	EPHA2	1969	HP:0000007	Autosomal recessive inheritance
OMIM:613763	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:613763	GCNT2	2651	HP:0001115	Posterior polar cataract
OMIM:613763	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:613763	GCNT2	2651	HP:0000556	Retinal dystrophy
OMIM:613763	GCNT2	2651	HP:0000007	Autosomal recessive inheritance
OMIM:613763	MIP	4284	HP:0000519	Congenital cataract
OMIM:613763	MIP	4284	HP:0001115	Posterior polar cataract
OMIM:613763	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:613763	MIP	4284	HP:0000556	Retinal dystrophy
OMIM:613763	MIP	4284	HP:0000007	Autosomal recessive inheritance
OMIM:613763	PITX3	5309	HP:0000519	Congenital cataract
OMIM:613763	PITX3	5309	HP:0001115	Posterior polar cataract
OMIM:613763	PITX3	5309	HP:0000006	Autosomal dominant inheritance
OMIM:613763	PITX3	5309	HP:0000556	Retinal dystrophy
OMIM:613763	PITX3	5309	HP:0000007	Autosomal recessive inheritance
OMIM:613489	COG4	25839	HP:0001399	Hepatic failure
OMIM:613489	COG4	25839	HP:0002028	Chronic diarrhea
OMIM:613489	COG4	25839	HP:0001999	Abnormal facial shape
OMIM:613489	COG4	25839	HP:0002205	Recurrent respiratory infections
OMIM:613489	COG4	25839	HP:0001744	Splenomegaly
OMIM:613489	COG4	25839	HP:0001250	Seizures
OMIM:613489	COG4	25839	HP:0000639	Nystagmus
OMIM:613489	COG4	25839	HP:0001251	Ataxia
OMIM:613489	COG4	25839	HP:0002240	Hepatomegaly
OMIM:613489	COG4	25839	HP:0001394	Cirrhosis
OMIM:613489	COG4	25839	HP:0008936	Muscular hypotonia of the trunk
OMIM:613489	COG4	25839	HP:0000737	Irritability
OMIM:613489	COG4	25839	HP:0011968	Feeding difficulties
OMIM:613489	COG4	25839	HP:0001344	Absent speech
OMIM:613489	COG4	25839	HP:0002910	Elevated hepatic transaminases
OMIM:613489	COG4	25839	HP:0000007	Autosomal recessive inheritance
OMIM:613489	COG4	25839	HP:0002059	Cerebral atrophy
OMIM:613489	COG4	25839	HP:0001508	Failure to thrive
OMIM:613489	COG4	25839	HP:0000252	Microcephaly
OMIM:613489	COG4	25839	HP:0002079	Hypoplasia of the corpus callosum
OMIM:601317	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:601317	DIAPH1	1729	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	DIAPH1	1729	HP:0002321	Vertigo
OMIM:601317	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:601317	CEACAM16	388551	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	CEACAM16	388551	HP:0002321	Vertigo
OMIM:601317	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:601317	SLC17A8	246213	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	SLC17A8	246213	HP:0002321	Vertigo
OMIM:601317	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:601317	TJP2	9414	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	TJP2	9414	HP:0002321	Vertigo
OMIM:601317	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:601317	ACTG1	71	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	ACTG1	71	HP:0002321	Vertigo
OMIM:601317	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601317	CCDC50	152137	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	CCDC50	152137	HP:0002321	Vertigo
OMIM:601317	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:601317	MIR96	407053	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	MIR96	407053	HP:0002321	Vertigo
OMIM:601317	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:601317	GJB2	2706	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	GJB2	2706	HP:0002321	Vertigo
OMIM:601317	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:601317	POU4F3	5459	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	POU4F3	5459	HP:0002321	Vertigo
OMIM:601317	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:601317	GJB3	2707	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	GJB3	2707	HP:0002321	Vertigo
OMIM:601317	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:601317	MYH9	4627	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	MYH9	4627	HP:0002321	Vertigo
OMIM:601317	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:601317	CRYM	1428	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	CRYM	1428	HP:0002321	Vertigo
OMIM:601317	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:601317	COL11A2	1302	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	COL11A2	1302	HP:0002321	Vertigo
OMIM:601317	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:601317	EYA4	2070	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	EYA4	2070	HP:0002321	Vertigo
OMIM:601317	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:601317	DFNA5	1687	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	DFNA5	1687	HP:0002321	Vertigo
OMIM:601317	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:601317	DIAPH3	81624	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	DIAPH3	81624	HP:0002321	Vertigo
OMIM:601317	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:601317	TMC1	117531	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	TMC1	117531	HP:0002321	Vertigo
OMIM:601317	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:601317	COCH	1690	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	COCH	1690	HP:0002321	Vertigo
OMIM:601317	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:601317	OSBPL2	9885	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	OSBPL2	9885	HP:0002321	Vertigo
OMIM:601317	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:601317	SIX1	6495	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	SIX1	6495	HP:0002321	Vertigo
OMIM:601317	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:601317	TECTA	7007	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	TECTA	7007	HP:0002321	Vertigo
OMIM:601317	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:601317	MYO1A	4640	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	MYO1A	4640	HP:0002321	Vertigo
OMIM:601317	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:601317	MYO1C	4641	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	MYO1C	4641	HP:0002321	Vertigo
OMIM:601317	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:601317	MYO6	4646	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	MYO6	4646	HP:0002321	Vertigo
OMIM:601317	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:601317	MYO7A	4647	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	MYO7A	4647	HP:0002321	Vertigo
OMIM:601317	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:601317	GRHL2	79977	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	GRHL2	79977	HP:0002321	Vertigo
OMIM:601317	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:601317	DIABLO	56616	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	DIABLO	56616	HP:0002321	Vertigo
OMIM:601317	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:601317	MYH14	79784	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	MYH14	79784	HP:0002321	Vertigo
OMIM:601317	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:601317	P2RX2	22953	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	P2RX2	22953	HP:0002321	Vertigo
OMIM:601317	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:601317	WFS1	7466	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	WFS1	7466	HP:0002321	Vertigo
OMIM:601317	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:601317	TNC	3371	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	TNC	3371	HP:0002321	Vertigo
OMIM:601317	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:601317	KCNQ4	9132	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	KCNQ4	9132	HP:0002321	Vertigo
OMIM:601317	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:601317	HOMER2	9455	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	HOMER2	9455	HP:0002321	Vertigo
OMIM:601317	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:601317	GJB6	10804	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	GJB6	10804	HP:0002321	Vertigo
OMIM:601317	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:601317	TBC1D24	57465	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:601317	TBC1D24	57465	HP:0002321	Vertigo
OMIM:607330	SC5D	6309	HP:0000405	Conductive hearing impairment
OMIM:607330	SC5D	6309	HP:0000286	Epicanthus
OMIM:607330	SC5D	6309	HP:0001249	Intellectual disability
OMIM:607330	SC5D	6309	HP:0000518	Cataract
OMIM:607330	SC5D	6309	HP:0000431	Wide nasal bridge
OMIM:607330	SC5D	6309	HP:0000341	Narrow forehead
OMIM:607330	SC5D	6309	HP:0002756	Pathologic fracture
OMIM:607330	SC5D	6309	HP:0000340	Sloping forehead
OMIM:607330	SC5D	6309	HP:0000343	Long philtrum
OMIM:607330	SC5D	6309	HP:0003107	Abnormality of cholesterol metabolism
OMIM:607330	SC5D	6309	HP:0000365	Hearing impairment
OMIM:607330	SC5D	6309	HP:0011877	Increased mean platelet volume
OMIM:607330	SC5D	6309	HP:0100543	Cognitive impairment
OMIM:607330	SC5D	6309	HP:0003312	Abnormal form of the vertebral bodies
OMIM:607330	SC5D	6309	HP:0000347	Micrognathia
OMIM:607330	SC5D	6309	HP:0000007	Autosomal recessive inheritance
OMIM:607330	SC5D	6309	HP:0002435	Meningocele
OMIM:607330	SC5D	6309	HP:0000212	Gingival overgrowth
OMIM:607330	SC5D	6309	HP:0000252	Microcephaly
OMIM:607330	SC5D	6309	HP:0000174	Abnormality of the palate
OMIM:607330	SC5D	6309	HP:0001252	Muscular hypotonia
OMIM:607330	SC5D	6309	HP:0004305	Involuntary movements
OMIM:607330	SC5D	6309	HP:0000508	Ptosis
OMIM:607330	SC5D	6309	HP:0007759	Opacification of the corneal stroma
OMIM:607330	SC5D	6309	HP:0003196	Short nose
OMIM:607330	SC5D	6309	HP:0001762	Talipes equinovarus
OMIM:607330	SC5D	6309	HP:0000085	Horseshoe kidney
OMIM:607330	SC5D	6309	HP:0002240	Hepatomegaly
OMIM:607330	SC5D	6309	HP:0001250	Seizures
OMIM:607330	SC5D	6309	HP:0001399	Hepatic failure
OMIM:607330	SC5D	6309	HP:0001877	Abnormality of erythrocytes
OMIM:607330	SC5D	6309	HP:0001510	Growth delay
OMIM:607330	SC5D	6309	HP:0000494	Downslanted palpebral fissures
OMIM:607330	SC5D	6309	HP:0000215	Thick upper lip vermilion
OMIM:607330	SC5D	6309	HP:0000218	High palate
OMIM:607330	SC5D	6309	HP:0002514	Cerebral calcification
OMIM:607330	SC5D	6309	HP:0002120	Cerebral cortical atrophy
OMIM:607330	SC5D	6309	HP:0001433	Hepatosplenomegaly
OMIM:607330	SC5D	6309	HP:0001770	Toe syndactyly
OMIM:607330	SC5D	6309	HP:0001406	Intrahepatic cholestasis
OMIM:607330	SC5D	6309	HP:0000463	Anteverted nares
OMIM:607330	SC5D	6309	HP:0001883	Talipes
OMIM:607330	SC5D	6309	HP:0002308	Arnold-Chiari malformation
OMIM:607330	SC5D	6309	HP:0001511	Intrauterine growth retardation
OMIM:607330	SC5D	6309	HP:0002059	Cerebral atrophy
OMIM:607330	SC5D	6309	HP:0000939	Osteoporosis
OMIM:607330	SC5D	6309	HP:0000233	Thin vermilion border
OMIM:607330	SC5D	6309	HP:0001162	Postaxial hand polydactyly
OMIM:607330	SC5D	6309	HP:0002714	Downturned corners of mouth
OMIM:607330	SC5D	6309	HP:0008736	Hypoplasia of penis
OMIM:607330	SC5D	6309	HP:0002910	Elevated hepatic transaminases
OMIM:607330	SC5D	6309	HP:0100542	Abnormal localization of kidney
OMIM:607330	SC5D	6309	HP:0002904	Hyperbilirubinemia
OMIM:607330	SC5D	6309	HP:0000482	Microcornea
OMIM:607330	SC5D	6309	HP:0001873	Thrombocytopenia
OMIM:607829	DCHS1	8642	HP:0001634	Mitral valve prolapse
OMIM:607829	DCHS1	8642	HP:0000006	Autosomal dominant inheritance
OMIM:607829	DCHS1	8642	HP:0001653	Mitral regurgitation
OMIM:614558	KCNB1	3745	HP:0000252	Microcephaly
OMIM:614558	KCNB1	3745	HP:0000006	Autosomal dominant inheritance
OMIM:614558	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:614558	KCNB1	3745	HP:0002059	Cerebral atrophy
OMIM:614558	KCNB1	3745	HP:0000717	Autism
OMIM:614558	KCNB1	3745	HP:0001249	Intellectual disability
OMIM:614558	KCNB1	3745	HP:0001252	Muscular hypotonia
OMIM:614558	KCNB1	3745	HP:0002376	Developmental regression
OMIM:614558	KCNB1	3745	HP:0001263	Global developmental delay
OMIM:614558	KCNB1	3745	HP:0011097	Epileptic spasms
OMIM:614558	PIGQ	9091	HP:0000252	Microcephaly
OMIM:614558	PIGQ	9091	HP:0000006	Autosomal dominant inheritance
OMIM:614558	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:614558	PIGQ	9091	HP:0002059	Cerebral atrophy
OMIM:614558	PIGQ	9091	HP:0000717	Autism
OMIM:614558	PIGQ	9091	HP:0001249	Intellectual disability
OMIM:614558	PIGQ	9091	HP:0001252	Muscular hypotonia
OMIM:614558	PIGQ	9091	HP:0002376	Developmental regression
OMIM:614558	PIGQ	9091	HP:0001263	Global developmental delay
OMIM:614558	PIGQ	9091	HP:0011097	Epileptic spasms
OMIM:614558	SLC25A22	79751	HP:0000252	Microcephaly
OMIM:614558	SLC25A22	79751	HP:0000006	Autosomal dominant inheritance
OMIM:614558	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:614558	SLC25A22	79751	HP:0002059	Cerebral atrophy
OMIM:614558	SLC25A22	79751	HP:0000717	Autism
OMIM:614558	SLC25A22	79751	HP:0001249	Intellectual disability
OMIM:614558	SLC25A22	79751	HP:0001252	Muscular hypotonia
OMIM:614558	SLC25A22	79751	HP:0002376	Developmental regression
OMIM:614558	SLC25A22	79751	HP:0001263	Global developmental delay
OMIM:614558	SLC25A22	79751	HP:0011097	Epileptic spasms
OMIM:614558	CDKL5	6792	HP:0000252	Microcephaly
OMIM:614558	CDKL5	6792	HP:0000006	Autosomal dominant inheritance
OMIM:614558	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:614558	CDKL5	6792	HP:0002059	Cerebral atrophy
OMIM:614558	CDKL5	6792	HP:0000717	Autism
OMIM:614558	CDKL5	6792	HP:0001249	Intellectual disability
OMIM:614558	CDKL5	6792	HP:0001252	Muscular hypotonia
OMIM:614558	CDKL5	6792	HP:0002376	Developmental regression
OMIM:614558	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:614558	CDKL5	6792	HP:0011097	Epileptic spasms
OMIM:614558	KCNQ2	3785	HP:0000252	Microcephaly
OMIM:614558	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:614558	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:614558	KCNQ2	3785	HP:0002059	Cerebral atrophy
OMIM:614558	KCNQ2	3785	HP:0000717	Autism
OMIM:614558	KCNQ2	3785	HP:0001249	Intellectual disability
OMIM:614558	KCNQ2	3785	HP:0001252	Muscular hypotonia
OMIM:614558	KCNQ2	3785	HP:0002376	Developmental regression
OMIM:614558	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:614558	KCNQ2	3785	HP:0011097	Epileptic spasms
OMIM:614558	SLC13A5	284111	HP:0000252	Microcephaly
OMIM:614558	SLC13A5	284111	HP:0000006	Autosomal dominant inheritance
OMIM:614558	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:614558	SLC13A5	284111	HP:0002059	Cerebral atrophy
OMIM:614558	SLC13A5	284111	HP:0000717	Autism
OMIM:614558	SLC13A5	284111	HP:0001249	Intellectual disability
OMIM:614558	SLC13A5	284111	HP:0001252	Muscular hypotonia
OMIM:614558	SLC13A5	284111	HP:0002376	Developmental regression
OMIM:614558	SLC13A5	284111	HP:0001263	Global developmental delay
OMIM:614558	SLC13A5	284111	HP:0011097	Epileptic spasms
OMIM:614558	SIK1	150094	HP:0000252	Microcephaly
OMIM:614558	SIK1	150094	HP:0000006	Autosomal dominant inheritance
OMIM:614558	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:614558	SIK1	150094	HP:0002059	Cerebral atrophy
OMIM:614558	SIK1	150094	HP:0000717	Autism
OMIM:614558	SIK1	150094	HP:0001249	Intellectual disability
OMIM:614558	SIK1	150094	HP:0001252	Muscular hypotonia
OMIM:614558	SIK1	150094	HP:0002376	Developmental regression
OMIM:614558	SIK1	150094	HP:0001263	Global developmental delay
OMIM:614558	SIK1	150094	HP:0011097	Epileptic spasms
OMIM:614558	HCN1	348980	HP:0000252	Microcephaly
OMIM:614558	HCN1	348980	HP:0000006	Autosomal dominant inheritance
OMIM:614558	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:614558	HCN1	348980	HP:0002059	Cerebral atrophy
OMIM:614558	HCN1	348980	HP:0000717	Autism
OMIM:614558	HCN1	348980	HP:0001249	Intellectual disability
OMIM:614558	HCN1	348980	HP:0001252	Muscular hypotonia
OMIM:614558	HCN1	348980	HP:0002376	Developmental regression
OMIM:614558	HCN1	348980	HP:0001263	Global developmental delay
OMIM:614558	HCN1	348980	HP:0011097	Epileptic spasms
OMIM:614558	PNKP	11284	HP:0000252	Microcephaly
OMIM:614558	PNKP	11284	HP:0000006	Autosomal dominant inheritance
OMIM:614558	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:614558	PNKP	11284	HP:0002059	Cerebral atrophy
OMIM:614558	PNKP	11284	HP:0000717	Autism
OMIM:614558	PNKP	11284	HP:0001249	Intellectual disability
OMIM:614558	PNKP	11284	HP:0001252	Muscular hypotonia
OMIM:614558	PNKP	11284	HP:0002376	Developmental regression
OMIM:614558	PNKP	11284	HP:0001263	Global developmental delay
OMIM:614558	PNKP	11284	HP:0011097	Epileptic spasms
OMIM:614558	SCN2A	6326	HP:0000252	Microcephaly
OMIM:614558	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:614558	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:614558	SCN2A	6326	HP:0002059	Cerebral atrophy
OMIM:614558	SCN2A	6326	HP:0000717	Autism
OMIM:614558	SCN2A	6326	HP:0001249	Intellectual disability
OMIM:614558	SCN2A	6326	HP:0001252	Muscular hypotonia
OMIM:614558	SCN2A	6326	HP:0002376	Developmental regression
OMIM:614558	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:614558	SCN2A	6326	HP:0011097	Epileptic spasms
OMIM:614558	GNAO1	2775	HP:0000252	Microcephaly
OMIM:614558	GNAO1	2775	HP:0000006	Autosomal dominant inheritance
OMIM:614558	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:614558	GNAO1	2775	HP:0002059	Cerebral atrophy
OMIM:614558	GNAO1	2775	HP:0000717	Autism
OMIM:614558	GNAO1	2775	HP:0001249	Intellectual disability
OMIM:614558	GNAO1	2775	HP:0001252	Muscular hypotonia
OMIM:614558	GNAO1	2775	HP:0002376	Developmental regression
OMIM:614558	GNAO1	2775	HP:0001263	Global developmental delay
OMIM:614558	GNAO1	2775	HP:0011097	Epileptic spasms
OMIM:614558	NECAP1	25977	HP:0000252	Microcephaly
OMIM:614558	NECAP1	25977	HP:0000006	Autosomal dominant inheritance
OMIM:614558	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:614558	NECAP1	25977	HP:0002059	Cerebral atrophy
OMIM:614558	NECAP1	25977	HP:0000717	Autism
OMIM:614558	NECAP1	25977	HP:0001249	Intellectual disability
OMIM:614558	NECAP1	25977	HP:0001252	Muscular hypotonia
OMIM:614558	NECAP1	25977	HP:0002376	Developmental regression
OMIM:614558	NECAP1	25977	HP:0001263	Global developmental delay
OMIM:614558	NECAP1	25977	HP:0011097	Epileptic spasms
OMIM:614558	ARX	170302	HP:0000252	Microcephaly
OMIM:614558	ARX	170302	HP:0000006	Autosomal dominant inheritance
OMIM:614558	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:614558	ARX	170302	HP:0002059	Cerebral atrophy
OMIM:614558	ARX	170302	HP:0000717	Autism
OMIM:614558	ARX	170302	HP:0001249	Intellectual disability
OMIM:614558	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:614558	ARX	170302	HP:0002376	Developmental regression
OMIM:614558	ARX	170302	HP:0001263	Global developmental delay
OMIM:614558	ARX	170302	HP:0011097	Epileptic spasms
OMIM:614558	STXBP1	6812	HP:0000252	Microcephaly
OMIM:614558	STXBP1	6812	HP:0000006	Autosomal dominant inheritance
OMIM:614558	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:614558	STXBP1	6812	HP:0002059	Cerebral atrophy
OMIM:614558	STXBP1	6812	HP:0000717	Autism
OMIM:614558	STXBP1	6812	HP:0001249	Intellectual disability
OMIM:614558	STXBP1	6812	HP:0001252	Muscular hypotonia
OMIM:614558	STXBP1	6812	HP:0002376	Developmental regression
OMIM:614558	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:614558	STXBP1	6812	HP:0011097	Epileptic spasms
OMIM:614558	WWOX	51741	HP:0000252	Microcephaly
OMIM:614558	WWOX	51741	HP:0000006	Autosomal dominant inheritance
OMIM:614558	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:614558	WWOX	51741	HP:0002059	Cerebral atrophy
OMIM:614558	WWOX	51741	HP:0000717	Autism
OMIM:614558	WWOX	51741	HP:0001249	Intellectual disability
OMIM:614558	WWOX	51741	HP:0001252	Muscular hypotonia
OMIM:614558	WWOX	51741	HP:0002376	Developmental regression
OMIM:614558	WWOX	51741	HP:0001263	Global developmental delay
OMIM:614558	WWOX	51741	HP:0011097	Epileptic spasms
OMIM:614558	CASK	8573	HP:0000252	Microcephaly
OMIM:614558	CASK	8573	HP:0000006	Autosomal dominant inheritance
OMIM:614558	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:614558	CASK	8573	HP:0002059	Cerebral atrophy
OMIM:614558	CASK	8573	HP:0000717	Autism
OMIM:614558	CASK	8573	HP:0001249	Intellectual disability
OMIM:614558	CASK	8573	HP:0001252	Muscular hypotonia
OMIM:614558	CASK	8573	HP:0002376	Developmental regression
OMIM:614558	CASK	8573	HP:0001263	Global developmental delay
OMIM:614558	CASK	8573	HP:0011097	Epileptic spasms
OMIM:614558	SCN8A	6334	HP:0000252	Microcephaly
OMIM:614558	SCN8A	6334	HP:0000006	Autosomal dominant inheritance
OMIM:614558	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:614558	SCN8A	6334	HP:0002059	Cerebral atrophy
OMIM:614558	SCN8A	6334	HP:0000717	Autism
OMIM:614558	SCN8A	6334	HP:0001249	Intellectual disability
OMIM:614558	SCN8A	6334	HP:0001252	Muscular hypotonia
OMIM:614558	SCN8A	6334	HP:0002376	Developmental regression
OMIM:614558	SCN8A	6334	HP:0001263	Global developmental delay
OMIM:614558	SCN8A	6334	HP:0011097	Epileptic spasms
OMIM:614558	DNM1	1759	HP:0000252	Microcephaly
OMIM:614558	DNM1	1759	HP:0000006	Autosomal dominant inheritance
OMIM:614558	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:614558	DNM1	1759	HP:0002059	Cerebral atrophy
OMIM:614558	DNM1	1759	HP:0000717	Autism
OMIM:614558	DNM1	1759	HP:0001249	Intellectual disability
OMIM:614558	DNM1	1759	HP:0001252	Muscular hypotonia
OMIM:614558	DNM1	1759	HP:0002376	Developmental regression
OMIM:614558	DNM1	1759	HP:0001263	Global developmental delay
OMIM:614558	DNM1	1759	HP:0011097	Epileptic spasms
OMIM:600116	PACRG	135138	HP:0001347	Hyperreflexia
OMIM:600116	PACRG	135138	HP:0002172	Postural instability
OMIM:600116	PACRG	135138	HP:0001288	Gait disturbance
OMIM:600116	PACRG	135138	HP:0003581	Adult onset
OMIM:600116	PACRG	135138	HP:0001300	Parkinsonism
OMIM:600116	PACRG	135138	HP:0002063	Rigidity
OMIM:600116	PACRG	135138	HP:0000007	Autosomal recessive inheritance
OMIM:600116	PACRG	135138	HP:0001332	Dystonia
OMIM:600116	PACRG	135138	HP:0002067	Bradykinesia
OMIM:600116	PACRG	135138	HP:0001337	Tremor
OMIM:600116	UCHL1	7345	HP:0001347	Hyperreflexia
OMIM:600116	UCHL1	7345	HP:0002172	Postural instability
OMIM:600116	UCHL1	7345	HP:0001288	Gait disturbance
OMIM:600116	UCHL1	7345	HP:0003581	Adult onset
OMIM:600116	UCHL1	7345	HP:0001300	Parkinsonism
OMIM:600116	UCHL1	7345	HP:0002063	Rigidity
OMIM:600116	UCHL1	7345	HP:0000007	Autosomal recessive inheritance
OMIM:600116	UCHL1	7345	HP:0001332	Dystonia
OMIM:600116	UCHL1	7345	HP:0002067	Bradykinesia
OMIM:600116	UCHL1	7345	HP:0001337	Tremor
OMIM:600116	PARK7	11315	HP:0001347	Hyperreflexia
OMIM:600116	PARK7	11315	HP:0002172	Postural instability
OMIM:600116	PARK7	11315	HP:0001288	Gait disturbance
OMIM:600116	PARK7	11315	HP:0003581	Adult onset
OMIM:600116	PARK7	11315	HP:0001300	Parkinsonism
OMIM:600116	PARK7	11315	HP:0002063	Rigidity
OMIM:600116	PARK7	11315	HP:0000007	Autosomal recessive inheritance
OMIM:600116	PARK7	11315	HP:0001332	Dystonia
OMIM:600116	PARK7	11315	HP:0002067	Bradykinesia
OMIM:600116	PARK7	11315	HP:0001337	Tremor
OMIM:600116	HTRA2	27429	HP:0001347	Hyperreflexia
OMIM:600116	HTRA2	27429	HP:0002172	Postural instability
OMIM:600116	HTRA2	27429	HP:0001288	Gait disturbance
OMIM:600116	HTRA2	27429	HP:0003581	Adult onset
OMIM:600116	HTRA2	27429	HP:0001300	Parkinsonism
OMIM:600116	HTRA2	27429	HP:0002063	Rigidity
OMIM:600116	HTRA2	27429	HP:0000007	Autosomal recessive inheritance
OMIM:600116	HTRA2	27429	HP:0001332	Dystonia
OMIM:600116	HTRA2	27429	HP:0002067	Bradykinesia
OMIM:600116	HTRA2	27429	HP:0001337	Tremor
OMIM:600116	PINK1	65018	HP:0001347	Hyperreflexia
OMIM:600116	PINK1	65018	HP:0002172	Postural instability
OMIM:600116	PINK1	65018	HP:0001288	Gait disturbance
OMIM:600116	PINK1	65018	HP:0003581	Adult onset
OMIM:600116	PINK1	65018	HP:0001300	Parkinsonism
OMIM:600116	PINK1	65018	HP:0002063	Rigidity
OMIM:600116	PINK1	65018	HP:0000007	Autosomal recessive inheritance
OMIM:600116	PINK1	65018	HP:0001332	Dystonia
OMIM:600116	PINK1	65018	HP:0002067	Bradykinesia
OMIM:600116	PINK1	65018	HP:0001337	Tremor
OMIM:600116	LRRK2	120892	HP:0001347	Hyperreflexia
OMIM:600116	LRRK2	120892	HP:0002172	Postural instability
OMIM:600116	LRRK2	120892	HP:0001288	Gait disturbance
OMIM:600116	LRRK2	120892	HP:0003581	Adult onset
OMIM:600116	LRRK2	120892	HP:0001300	Parkinsonism
OMIM:600116	LRRK2	120892	HP:0002063	Rigidity
OMIM:600116	LRRK2	120892	HP:0000007	Autosomal recessive inheritance
OMIM:600116	LRRK2	120892	HP:0001332	Dystonia
OMIM:600116	LRRK2	120892	HP:0002067	Bradykinesia
OMIM:600116	LRRK2	120892	HP:0001337	Tremor
OMIM:600116	SNCA	6622	HP:0001347	Hyperreflexia
OMIM:600116	SNCA	6622	HP:0002172	Postural instability
OMIM:600116	SNCA	6622	HP:0001288	Gait disturbance
OMIM:600116	SNCA	6622	HP:0003581	Adult onset
OMIM:600116	SNCA	6622	HP:0001300	Parkinsonism
OMIM:600116	SNCA	6622	HP:0002063	Rigidity
OMIM:600116	SNCA	6622	HP:0000007	Autosomal recessive inheritance
OMIM:600116	SNCA	6622	HP:0001332	Dystonia
OMIM:600116	SNCA	6622	HP:0002067	Bradykinesia
OMIM:600116	SNCA	6622	HP:0001337	Tremor
OMIM:600116	PARK2	5071	HP:0001347	Hyperreflexia
OMIM:600116	PARK2	5071	HP:0002172	Postural instability
OMIM:600116	PARK2	5071	HP:0001288	Gait disturbance
OMIM:600116	PARK2	5071	HP:0003581	Adult onset
OMIM:600116	PARK2	5071	HP:0001300	Parkinsonism
OMIM:600116	PARK2	5071	HP:0002063	Rigidity
OMIM:600116	PARK2	5071	HP:0000007	Autosomal recessive inheritance
OMIM:600116	PARK2	5071	HP:0001332	Dystonia
OMIM:600116	PARK2	5071	HP:0002067	Bradykinesia
OMIM:600116	PARK2	5071	HP:0001337	Tremor
OMIM:127500	ABCB6	10058	HP:0003593	Infantile onset
OMIM:127500	ABCB6	10058	HP:0000006	Autosomal dominant inheritance
OMIM:276900	PCDH15	65217	HP:0001270	Motor delay
OMIM:276900	PCDH15	65217	HP:0000572	Visual loss
OMIM:276900	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:276900	PCDH15	65217	HP:0000510	Rod-cone dystrophy
OMIM:276900	PCDH15	65217	HP:0008555	Absent vestibular function
OMIM:276900	PCDH15	65217	HP:0000407	Sensorineural hearing impairment
OMIM:276900	PCDH15	65217	HP:0001425	Heterogeneous
OMIM:276900	PCDH15	65217	HP:0000550	Undetectable electroretinogram
OMIM:276900	USH1C	10083	HP:0001270	Motor delay
OMIM:276900	USH1C	10083	HP:0000572	Visual loss
OMIM:276900	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:276900	USH1C	10083	HP:0000510	Rod-cone dystrophy
OMIM:276900	USH1C	10083	HP:0008555	Absent vestibular function
OMIM:276900	USH1C	10083	HP:0000407	Sensorineural hearing impairment
OMIM:276900	USH1C	10083	HP:0001425	Heterogeneous
OMIM:276900	USH1C	10083	HP:0000550	Undetectable electroretinogram
OMIM:276900	CIB2	10518	HP:0001270	Motor delay
OMIM:276900	CIB2	10518	HP:0000572	Visual loss
OMIM:276900	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:276900	CIB2	10518	HP:0000510	Rod-cone dystrophy
OMIM:276900	CIB2	10518	HP:0008555	Absent vestibular function
OMIM:276900	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:276900	CIB2	10518	HP:0001425	Heterogeneous
OMIM:276900	CIB2	10518	HP:0000550	Undetectable electroretinogram
OMIM:276900	MYO7A	4647	HP:0001270	Motor delay
OMIM:276900	MYO7A	4647	HP:0000572	Visual loss
OMIM:276900	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:276900	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:276900	MYO7A	4647	HP:0008555	Absent vestibular function
OMIM:276900	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:276900	MYO7A	4647	HP:0001425	Heterogeneous
OMIM:276900	MYO7A	4647	HP:0000550	Undetectable electroretinogram
OMIM:276900	CDH23	64072	HP:0001270	Motor delay
OMIM:276900	CDH23	64072	HP:0000572	Visual loss
OMIM:276900	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:276900	CDH23	64072	HP:0000510	Rod-cone dystrophy
OMIM:276900	CDH23	64072	HP:0008555	Absent vestibular function
OMIM:276900	CDH23	64072	HP:0000407	Sensorineural hearing impairment
OMIM:276900	CDH23	64072	HP:0001425	Heterogeneous
OMIM:276900	CDH23	64072	HP:0000550	Undetectable electroretinogram
OMIM:276900	USH1G	124590	HP:0001270	Motor delay
OMIM:276900	USH1G	124590	HP:0000572	Visual loss
OMIM:276900	USH1G	124590	HP:0000007	Autosomal recessive inheritance
OMIM:276900	USH1G	124590	HP:0000510	Rod-cone dystrophy
OMIM:276900	USH1G	124590	HP:0008555	Absent vestibular function
OMIM:276900	USH1G	124590	HP:0000407	Sensorineural hearing impairment
OMIM:276900	USH1G	124590	HP:0001425	Heterogeneous
OMIM:276900	USH1G	124590	HP:0000550	Undetectable electroretinogram
OMIM:614340	METTL23	124512	HP:0001252	Muscular hypotonia
OMIM:614340	METTL23	124512	HP:0001263	Global developmental delay
OMIM:614340	METTL23	124512	HP:0001347	Hyperreflexia
OMIM:614340	METTL23	124512	HP:0011800	Hypoplasia of midface
OMIM:614340	METTL23	124512	HP:0001510	Growth delay
OMIM:614340	METTL23	124512	HP:0000718	Aggressive behavior
OMIM:614340	METTL23	124512	HP:0001249	Intellectual disability
OMIM:614340	METTL23	124512	HP:0002465	Poor speech
OMIM:614340	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:614340	METTL23	124512	HP:0000252	Microcephaly
OMIM:614340	METTL23	124512	HP:0005280	Depressed nasal bridge
OMIM:614340	CRADD	8738	HP:0001252	Muscular hypotonia
OMIM:614340	CRADD	8738	HP:0001263	Global developmental delay
OMIM:614340	CRADD	8738	HP:0001347	Hyperreflexia
OMIM:614340	CRADD	8738	HP:0011800	Hypoplasia of midface
OMIM:614340	CRADD	8738	HP:0001510	Growth delay
OMIM:614340	CRADD	8738	HP:0000718	Aggressive behavior
OMIM:614340	CRADD	8738	HP:0001249	Intellectual disability
OMIM:614340	CRADD	8738	HP:0002465	Poor speech
OMIM:614340	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:614340	CRADD	8738	HP:0000252	Microcephaly
OMIM:614340	CRADD	8738	HP:0005280	Depressed nasal bridge
OMIM:614340	NSUN2	54888	HP:0001252	Muscular hypotonia
OMIM:614340	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:614340	NSUN2	54888	HP:0001347	Hyperreflexia
OMIM:614340	NSUN2	54888	HP:0011800	Hypoplasia of midface
OMIM:614340	NSUN2	54888	HP:0001510	Growth delay
OMIM:614340	NSUN2	54888	HP:0000718	Aggressive behavior
OMIM:614340	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:614340	NSUN2	54888	HP:0002465	Poor speech
OMIM:614340	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:614340	NSUN2	54888	HP:0000252	Microcephaly
OMIM:614340	NSUN2	54888	HP:0005280	Depressed nasal bridge
OMIM:614340	FMN2	56776	HP:0001252	Muscular hypotonia
OMIM:614340	FMN2	56776	HP:0001263	Global developmental delay
OMIM:614340	FMN2	56776	HP:0001347	Hyperreflexia
OMIM:614340	FMN2	56776	HP:0011800	Hypoplasia of midface
OMIM:614340	FMN2	56776	HP:0001510	Growth delay
OMIM:614340	FMN2	56776	HP:0000718	Aggressive behavior
OMIM:614340	FMN2	56776	HP:0001249	Intellectual disability
OMIM:614340	FMN2	56776	HP:0002465	Poor speech
OMIM:614340	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:614340	FMN2	56776	HP:0000252	Microcephaly
OMIM:614340	FMN2	56776	HP:0005280	Depressed nasal bridge
OMIM:614340	CLIP1	6249	HP:0001252	Muscular hypotonia
OMIM:614340	CLIP1	6249	HP:0001263	Global developmental delay
OMIM:614340	CLIP1	6249	HP:0001347	Hyperreflexia
OMIM:614340	CLIP1	6249	HP:0011800	Hypoplasia of midface
OMIM:614340	CLIP1	6249	HP:0001510	Growth delay
OMIM:614340	CLIP1	6249	HP:0000718	Aggressive behavior
OMIM:614340	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:614340	CLIP1	6249	HP:0002465	Poor speech
OMIM:614340	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:614340	CLIP1	6249	HP:0000252	Microcephaly
OMIM:614340	CLIP1	6249	HP:0005280	Depressed nasal bridge
OMIM:614340	ZC3H14	79882	HP:0001252	Muscular hypotonia
OMIM:614340	ZC3H14	79882	HP:0001263	Global developmental delay
OMIM:614340	ZC3H14	79882	HP:0001347	Hyperreflexia
OMIM:614340	ZC3H14	79882	HP:0011800	Hypoplasia of midface
OMIM:614340	ZC3H14	79882	HP:0001510	Growth delay
OMIM:614340	ZC3H14	79882	HP:0000718	Aggressive behavior
OMIM:614340	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:614340	ZC3H14	79882	HP:0002465	Poor speech
OMIM:614340	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:614340	ZC3H14	79882	HP:0000252	Microcephaly
OMIM:614340	ZC3H14	79882	HP:0005280	Depressed nasal bridge
OMIM:614340	LINS1	55180	HP:0001252	Muscular hypotonia
OMIM:614340	LINS1	55180	HP:0001263	Global developmental delay
OMIM:614340	LINS1	55180	HP:0001347	Hyperreflexia
OMIM:614340	LINS1	55180	HP:0011800	Hypoplasia of midface
OMIM:614340	LINS1	55180	HP:0001510	Growth delay
OMIM:614340	LINS1	55180	HP:0000718	Aggressive behavior
OMIM:614340	LINS1	55180	HP:0001249	Intellectual disability
OMIM:614340	LINS1	55180	HP:0002465	Poor speech
OMIM:614340	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614340	LINS1	55180	HP:0000252	Microcephaly
OMIM:614340	LINS1	55180	HP:0005280	Depressed nasal bridge
OMIM:614340	PRSS12	8492	HP:0001252	Muscular hypotonia
OMIM:614340	PRSS12	8492	HP:0001263	Global developmental delay
OMIM:614340	PRSS12	8492	HP:0001347	Hyperreflexia
OMIM:614340	PRSS12	8492	HP:0011800	Hypoplasia of midface
OMIM:614340	PRSS12	8492	HP:0001510	Growth delay
OMIM:614340	PRSS12	8492	HP:0000718	Aggressive behavior
OMIM:614340	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:614340	PRSS12	8492	HP:0002465	Poor speech
OMIM:614340	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:614340	PRSS12	8492	HP:0000252	Microcephaly
OMIM:614340	PRSS12	8492	HP:0005280	Depressed nasal bridge
OMIM:614340	NDST1	3340	HP:0001252	Muscular hypotonia
OMIM:614340	NDST1	3340	HP:0001263	Global developmental delay
OMIM:614340	NDST1	3340	HP:0001347	Hyperreflexia
OMIM:614340	NDST1	3340	HP:0011800	Hypoplasia of midface
OMIM:614340	NDST1	3340	HP:0001510	Growth delay
OMIM:614340	NDST1	3340	HP:0000718	Aggressive behavior
OMIM:614340	NDST1	3340	HP:0001249	Intellectual disability
OMIM:614340	NDST1	3340	HP:0002465	Poor speech
OMIM:614340	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:614340	NDST1	3340	HP:0000252	Microcephaly
OMIM:614340	NDST1	3340	HP:0005280	Depressed nasal bridge
OMIM:614340	CC2D1A	54862	HP:0001252	Muscular hypotonia
OMIM:614340	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:614340	CC2D1A	54862	HP:0001347	Hyperreflexia
OMIM:614340	CC2D1A	54862	HP:0011800	Hypoplasia of midface
OMIM:614340	CC2D1A	54862	HP:0001510	Growth delay
OMIM:614340	CC2D1A	54862	HP:0000718	Aggressive behavior
OMIM:614340	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:614340	CC2D1A	54862	HP:0002465	Poor speech
OMIM:614340	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:614340	CC2D1A	54862	HP:0000252	Microcephaly
OMIM:614340	CC2D1A	54862	HP:0005280	Depressed nasal bridge
OMIM:614340	FBXO31	79791	HP:0001252	Muscular hypotonia
OMIM:614340	FBXO31	79791	HP:0001263	Global developmental delay
OMIM:614340	FBXO31	79791	HP:0001347	Hyperreflexia
OMIM:614340	FBXO31	79791	HP:0011800	Hypoplasia of midface
OMIM:614340	FBXO31	79791	HP:0001510	Growth delay
OMIM:614340	FBXO31	79791	HP:0000718	Aggressive behavior
OMIM:614340	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:614340	FBXO31	79791	HP:0002465	Poor speech
OMIM:614340	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:614340	FBXO31	79791	HP:0000252	Microcephaly
OMIM:614340	FBXO31	79791	HP:0005280	Depressed nasal bridge
OMIM:614340	CRBN	51185	HP:0001252	Muscular hypotonia
OMIM:614340	CRBN	51185	HP:0001263	Global developmental delay
OMIM:614340	CRBN	51185	HP:0001347	Hyperreflexia
OMIM:614340	CRBN	51185	HP:0011800	Hypoplasia of midface
OMIM:614340	CRBN	51185	HP:0001510	Growth delay
OMIM:614340	CRBN	51185	HP:0000718	Aggressive behavior
OMIM:614340	CRBN	51185	HP:0001249	Intellectual disability
OMIM:614340	CRBN	51185	HP:0002465	Poor speech
OMIM:614340	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:614340	CRBN	51185	HP:0000252	Microcephaly
OMIM:614340	CRBN	51185	HP:0005280	Depressed nasal bridge
OMIM:614340	TRAPPC9	83696	HP:0001252	Muscular hypotonia
OMIM:614340	TRAPPC9	83696	HP:0001263	Global developmental delay
OMIM:614340	TRAPPC9	83696	HP:0001347	Hyperreflexia
OMIM:614340	TRAPPC9	83696	HP:0011800	Hypoplasia of midface
OMIM:614340	TRAPPC9	83696	HP:0001510	Growth delay
OMIM:614340	TRAPPC9	83696	HP:0000718	Aggressive behavior
OMIM:614340	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:614340	TRAPPC9	83696	HP:0002465	Poor speech
OMIM:614340	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:614340	TRAPPC9	83696	HP:0000252	Microcephaly
OMIM:614340	TRAPPC9	83696	HP:0005280	Depressed nasal bridge
OMIM:614340	GRIK2	2898	HP:0001252	Muscular hypotonia
OMIM:614340	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:614340	GRIK2	2898	HP:0001347	Hyperreflexia
OMIM:614340	GRIK2	2898	HP:0011800	Hypoplasia of midface
OMIM:614340	GRIK2	2898	HP:0001510	Growth delay
OMIM:614340	GRIK2	2898	HP:0000718	Aggressive behavior
OMIM:614340	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:614340	GRIK2	2898	HP:0002465	Poor speech
OMIM:614340	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:614340	GRIK2	2898	HP:0000252	Microcephaly
OMIM:614340	GRIK2	2898	HP:0005280	Depressed nasal bridge
OMIM:614340	SLC6A17	388662	HP:0001252	Muscular hypotonia
OMIM:614340	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:614340	SLC6A17	388662	HP:0001347	Hyperreflexia
OMIM:614340	SLC6A17	388662	HP:0011800	Hypoplasia of midface
OMIM:614340	SLC6A17	388662	HP:0001510	Growth delay
OMIM:614340	SLC6A17	388662	HP:0000718	Aggressive behavior
OMIM:614340	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:614340	SLC6A17	388662	HP:0002465	Poor speech
OMIM:614340	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:614340	SLC6A17	388662	HP:0000252	Microcephaly
OMIM:614340	SLC6A17	388662	HP:0005280	Depressed nasal bridge
OMIM:614340	TECR	9524	HP:0001252	Muscular hypotonia
OMIM:614340	TECR	9524	HP:0001263	Global developmental delay
OMIM:614340	TECR	9524	HP:0001347	Hyperreflexia
OMIM:614340	TECR	9524	HP:0011800	Hypoplasia of midface
OMIM:614340	TECR	9524	HP:0001510	Growth delay
OMIM:614340	TECR	9524	HP:0000718	Aggressive behavior
OMIM:614340	TECR	9524	HP:0001249	Intellectual disability
OMIM:614340	TECR	9524	HP:0002465	Poor speech
OMIM:614340	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:614340	TECR	9524	HP:0000252	Microcephaly
OMIM:614340	TECR	9524	HP:0005280	Depressed nasal bridge
OMIM:614340	MAN1B1	11253	HP:0001252	Muscular hypotonia
OMIM:614340	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:614340	MAN1B1	11253	HP:0001347	Hyperreflexia
OMIM:614340	MAN1B1	11253	HP:0011800	Hypoplasia of midface
OMIM:614340	MAN1B1	11253	HP:0001510	Growth delay
OMIM:614340	MAN1B1	11253	HP:0000718	Aggressive behavior
OMIM:614340	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:614340	MAN1B1	11253	HP:0002465	Poor speech
OMIM:614340	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:614340	MAN1B1	11253	HP:0000252	Microcephaly
OMIM:614340	MAN1B1	11253	HP:0005280	Depressed nasal bridge
OMIM:614340	TUSC3	7991	HP:0001252	Muscular hypotonia
OMIM:614340	TUSC3	7991	HP:0001263	Global developmental delay
OMIM:614340	TUSC3	7991	HP:0001347	Hyperreflexia
OMIM:614340	TUSC3	7991	HP:0011800	Hypoplasia of midface
OMIM:614340	TUSC3	7991	HP:0001510	Growth delay
OMIM:614340	TUSC3	7991	HP:0000718	Aggressive behavior
OMIM:614340	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:614340	TUSC3	7991	HP:0002465	Poor speech
OMIM:614340	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:614340	TUSC3	7991	HP:0000252	Microcephaly
OMIM:614340	TUSC3	7991	HP:0005280	Depressed nasal bridge
OMIM:614340	ST3GAL3	6487	HP:0001252	Muscular hypotonia
OMIM:614340	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:614340	ST3GAL3	6487	HP:0001347	Hyperreflexia
OMIM:614340	ST3GAL3	6487	HP:0011800	Hypoplasia of midface
OMIM:614340	ST3GAL3	6487	HP:0001510	Growth delay
OMIM:614340	ST3GAL3	6487	HP:0000718	Aggressive behavior
OMIM:614340	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:614340	ST3GAL3	6487	HP:0002465	Poor speech
OMIM:614340	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:614340	ST3GAL3	6487	HP:0000252	Microcephaly
OMIM:614340	ST3GAL3	6487	HP:0005280	Depressed nasal bridge
OMIM:614340	EDC3	80153	HP:0001252	Muscular hypotonia
OMIM:614340	EDC3	80153	HP:0001263	Global developmental delay
OMIM:614340	EDC3	80153	HP:0001347	Hyperreflexia
OMIM:614340	EDC3	80153	HP:0011800	Hypoplasia of midface
OMIM:614340	EDC3	80153	HP:0001510	Growth delay
OMIM:614340	EDC3	80153	HP:0000718	Aggressive behavior
OMIM:614340	EDC3	80153	HP:0001249	Intellectual disability
OMIM:614340	EDC3	80153	HP:0002465	Poor speech
OMIM:614340	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:614340	EDC3	80153	HP:0000252	Microcephaly
OMIM:614340	EDC3	80153	HP:0005280	Depressed nasal bridge
OMIM:614340	MED13L	23389	HP:0001252	Muscular hypotonia
OMIM:614340	MED13L	23389	HP:0001263	Global developmental delay
OMIM:614340	MED13L	23389	HP:0001347	Hyperreflexia
OMIM:614340	MED13L	23389	HP:0011800	Hypoplasia of midface
OMIM:614340	MED13L	23389	HP:0001510	Growth delay
OMIM:614340	MED13L	23389	HP:0000718	Aggressive behavior
OMIM:614340	MED13L	23389	HP:0001249	Intellectual disability
OMIM:614340	MED13L	23389	HP:0002465	Poor speech
OMIM:614340	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:614340	MED13L	23389	HP:0000252	Microcephaly
OMIM:614340	MED13L	23389	HP:0005280	Depressed nasal bridge
OMIM:614340	KIAA1033	23325	HP:0001252	Muscular hypotonia
OMIM:614340	KIAA1033	23325	HP:0001263	Global developmental delay
OMIM:614340	KIAA1033	23325	HP:0001347	Hyperreflexia
OMIM:614340	KIAA1033	23325	HP:0011800	Hypoplasia of midface
OMIM:614340	KIAA1033	23325	HP:0001510	Growth delay
OMIM:614340	KIAA1033	23325	HP:0000718	Aggressive behavior
OMIM:614340	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:614340	KIAA1033	23325	HP:0002465	Poor speech
OMIM:614340	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:614340	KIAA1033	23325	HP:0000252	Microcephaly
OMIM:614340	KIAA1033	23325	HP:0005280	Depressed nasal bridge
OMIM:614340	MED23	9439	HP:0001252	Muscular hypotonia
OMIM:614340	MED23	9439	HP:0001263	Global developmental delay
OMIM:614340	MED23	9439	HP:0001347	Hyperreflexia
OMIM:614340	MED23	9439	HP:0011800	Hypoplasia of midface
OMIM:614340	MED23	9439	HP:0001510	Growth delay
OMIM:614340	MED23	9439	HP:0000718	Aggressive behavior
OMIM:614340	MED23	9439	HP:0001249	Intellectual disability
OMIM:614340	MED23	9439	HP:0002465	Poor speech
OMIM:614340	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:614340	MED23	9439	HP:0000252	Microcephaly
OMIM:614340	MED23	9439	HP:0005280	Depressed nasal bridge
OMIM:604369	SLC17A5	26503	HP:0002684	Thickened calvaria
OMIM:604369	SLC17A5	26503	HP:0000007	Autosomal recessive inheritance
OMIM:604369	SLC17A5	26503	HP:0000639	Nystagmus
OMIM:604369	SLC17A5	26503	HP:0000577	Exotropia
OMIM:604369	SLC17A5	26503	HP:0001249	Intellectual disability
OMIM:604369	SLC17A5	26503	HP:0001510	Growth delay
OMIM:604369	SLC17A5	26503	HP:0001257	Spasticity
OMIM:604369	SLC17A5	26503	HP:0000750	Delayed speech and language development
OMIM:604369	SLC17A5	26503	HP:0001251	Ataxia
OMIM:604369	SLC17A5	26503	HP:0001250	Seizures
OMIM:604369	SLC17A5	26503	HP:0002540	Inability to walk
OMIM:604369	SLC17A5	26503	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:604369	SLC17A5	26503	HP:0002305	Athetosis
OMIM:604369	SLC17A5	26503	HP:0001260	Dysarthria
OMIM:604369	SLC17A5	26503	HP:0001252	Muscular hypotonia
OMIM:604369	SLC17A5	26503	HP:0001263	Global developmental delay
OMIM:613192	METTL23	124512	HP:0002714	Downturned corners of mouth
OMIM:613192	METTL23	124512	HP:0000664	Synophrys
OMIM:613192	METTL23	124512	HP:0000007	Autosomal recessive inheritance
OMIM:613192	METTL23	124512	HP:0000601	Hypotelorism
OMIM:613192	METTL23	124512	HP:0000470	Short neck
OMIM:613192	METTL23	124512	HP:0001249	Intellectual disability
OMIM:613192	METTL23	124512	HP:0000319	Smooth philtrum
OMIM:613192	METTL23	124512	HP:0000752	Hyperactivity
OMIM:613192	METTL23	124512	HP:0001956	Truncal obesity
OMIM:613192	METTL23	124512	HP:0000316	Hypertelorism
OMIM:613192	METTL23	124512	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	METTL23	124512	HP:0003593	Infantile onset
OMIM:613192	METTL23	124512	HP:0000204	Cleft upper lip
OMIM:613192	METTL23	124512	HP:0005484	Postnatal microcephaly
OMIM:613192	METTL23	124512	HP:0000431	Wide nasal bridge
OMIM:613192	METTL23	124512	HP:0001250	Seizures
OMIM:613192	METTL23	124512	HP:0000322	Short philtrum
OMIM:613192	METTL23	124512	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	CRADD	8738	HP:0002714	Downturned corners of mouth
OMIM:613192	CRADD	8738	HP:0000664	Synophrys
OMIM:613192	CRADD	8738	HP:0000007	Autosomal recessive inheritance
OMIM:613192	CRADD	8738	HP:0000601	Hypotelorism
OMIM:613192	CRADD	8738	HP:0000470	Short neck
OMIM:613192	CRADD	8738	HP:0001249	Intellectual disability
OMIM:613192	CRADD	8738	HP:0000319	Smooth philtrum
OMIM:613192	CRADD	8738	HP:0000752	Hyperactivity
OMIM:613192	CRADD	8738	HP:0001956	Truncal obesity
OMIM:613192	CRADD	8738	HP:0000316	Hypertelorism
OMIM:613192	CRADD	8738	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	CRADD	8738	HP:0003593	Infantile onset
OMIM:613192	CRADD	8738	HP:0000204	Cleft upper lip
OMIM:613192	CRADD	8738	HP:0005484	Postnatal microcephaly
OMIM:613192	CRADD	8738	HP:0000431	Wide nasal bridge
OMIM:613192	CRADD	8738	HP:0001250	Seizures
OMIM:613192	CRADD	8738	HP:0000322	Short philtrum
OMIM:613192	CRADD	8738	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	NSUN2	54888	HP:0002714	Downturned corners of mouth
OMIM:613192	NSUN2	54888	HP:0000664	Synophrys
OMIM:613192	NSUN2	54888	HP:0000007	Autosomal recessive inheritance
OMIM:613192	NSUN2	54888	HP:0000601	Hypotelorism
OMIM:613192	NSUN2	54888	HP:0000470	Short neck
OMIM:613192	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:613192	NSUN2	54888	HP:0000319	Smooth philtrum
OMIM:613192	NSUN2	54888	HP:0000752	Hyperactivity
OMIM:613192	NSUN2	54888	HP:0001956	Truncal obesity
OMIM:613192	NSUN2	54888	HP:0000316	Hypertelorism
OMIM:613192	NSUN2	54888	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	NSUN2	54888	HP:0003593	Infantile onset
OMIM:613192	NSUN2	54888	HP:0000204	Cleft upper lip
OMIM:613192	NSUN2	54888	HP:0005484	Postnatal microcephaly
OMIM:613192	NSUN2	54888	HP:0000431	Wide nasal bridge
OMIM:613192	NSUN2	54888	HP:0001250	Seizures
OMIM:613192	NSUN2	54888	HP:0000322	Short philtrum
OMIM:613192	NSUN2	54888	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	FMN2	56776	HP:0002714	Downturned corners of mouth
OMIM:613192	FMN2	56776	HP:0000664	Synophrys
OMIM:613192	FMN2	56776	HP:0000007	Autosomal recessive inheritance
OMIM:613192	FMN2	56776	HP:0000601	Hypotelorism
OMIM:613192	FMN2	56776	HP:0000470	Short neck
OMIM:613192	FMN2	56776	HP:0001249	Intellectual disability
OMIM:613192	FMN2	56776	HP:0000319	Smooth philtrum
OMIM:613192	FMN2	56776	HP:0000752	Hyperactivity
OMIM:613192	FMN2	56776	HP:0001956	Truncal obesity
OMIM:613192	FMN2	56776	HP:0000316	Hypertelorism
OMIM:613192	FMN2	56776	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	FMN2	56776	HP:0003593	Infantile onset
OMIM:613192	FMN2	56776	HP:0000204	Cleft upper lip
OMIM:613192	FMN2	56776	HP:0005484	Postnatal microcephaly
OMIM:613192	FMN2	56776	HP:0000431	Wide nasal bridge
OMIM:613192	FMN2	56776	HP:0001250	Seizures
OMIM:613192	FMN2	56776	HP:0000322	Short philtrum
OMIM:613192	FMN2	56776	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	CLIP1	6249	HP:0002714	Downturned corners of mouth
OMIM:613192	CLIP1	6249	HP:0000664	Synophrys
OMIM:613192	CLIP1	6249	HP:0000007	Autosomal recessive inheritance
OMIM:613192	CLIP1	6249	HP:0000601	Hypotelorism
OMIM:613192	CLIP1	6249	HP:0000470	Short neck
OMIM:613192	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:613192	CLIP1	6249	HP:0000319	Smooth philtrum
OMIM:613192	CLIP1	6249	HP:0000752	Hyperactivity
OMIM:613192	CLIP1	6249	HP:0001956	Truncal obesity
OMIM:613192	CLIP1	6249	HP:0000316	Hypertelorism
OMIM:613192	CLIP1	6249	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	CLIP1	6249	HP:0003593	Infantile onset
OMIM:613192	CLIP1	6249	HP:0000204	Cleft upper lip
OMIM:613192	CLIP1	6249	HP:0005484	Postnatal microcephaly
OMIM:613192	CLIP1	6249	HP:0000431	Wide nasal bridge
OMIM:613192	CLIP1	6249	HP:0001250	Seizures
OMIM:613192	CLIP1	6249	HP:0000322	Short philtrum
OMIM:613192	CLIP1	6249	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	ZC3H14	79882	HP:0002714	Downturned corners of mouth
OMIM:613192	ZC3H14	79882	HP:0000664	Synophrys
OMIM:613192	ZC3H14	79882	HP:0000007	Autosomal recessive inheritance
OMIM:613192	ZC3H14	79882	HP:0000601	Hypotelorism
OMIM:613192	ZC3H14	79882	HP:0000470	Short neck
OMIM:613192	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:613192	ZC3H14	79882	HP:0000319	Smooth philtrum
OMIM:613192	ZC3H14	79882	HP:0000752	Hyperactivity
OMIM:613192	ZC3H14	79882	HP:0001956	Truncal obesity
OMIM:613192	ZC3H14	79882	HP:0000316	Hypertelorism
OMIM:613192	ZC3H14	79882	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	ZC3H14	79882	HP:0003593	Infantile onset
OMIM:613192	ZC3H14	79882	HP:0000204	Cleft upper lip
OMIM:613192	ZC3H14	79882	HP:0005484	Postnatal microcephaly
OMIM:613192	ZC3H14	79882	HP:0000431	Wide nasal bridge
OMIM:613192	ZC3H14	79882	HP:0001250	Seizures
OMIM:613192	ZC3H14	79882	HP:0000322	Short philtrum
OMIM:613192	ZC3H14	79882	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	PRSS12	8492	HP:0002714	Downturned corners of mouth
OMIM:613192	PRSS12	8492	HP:0000664	Synophrys
OMIM:613192	PRSS12	8492	HP:0000007	Autosomal recessive inheritance
OMIM:613192	PRSS12	8492	HP:0000601	Hypotelorism
OMIM:613192	PRSS12	8492	HP:0000470	Short neck
OMIM:613192	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:613192	PRSS12	8492	HP:0000319	Smooth philtrum
OMIM:613192	PRSS12	8492	HP:0000752	Hyperactivity
OMIM:613192	PRSS12	8492	HP:0001956	Truncal obesity
OMIM:613192	PRSS12	8492	HP:0000316	Hypertelorism
OMIM:613192	PRSS12	8492	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	PRSS12	8492	HP:0003593	Infantile onset
OMIM:613192	PRSS12	8492	HP:0000204	Cleft upper lip
OMIM:613192	PRSS12	8492	HP:0005484	Postnatal microcephaly
OMIM:613192	PRSS12	8492	HP:0000431	Wide nasal bridge
OMIM:613192	PRSS12	8492	HP:0001250	Seizures
OMIM:613192	PRSS12	8492	HP:0000322	Short philtrum
OMIM:613192	PRSS12	8492	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	LINS1	55180	HP:0002714	Downturned corners of mouth
OMIM:613192	LINS1	55180	HP:0000664	Synophrys
OMIM:613192	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:613192	LINS1	55180	HP:0000601	Hypotelorism
OMIM:613192	LINS1	55180	HP:0000470	Short neck
OMIM:613192	LINS1	55180	HP:0001249	Intellectual disability
OMIM:613192	LINS1	55180	HP:0000319	Smooth philtrum
OMIM:613192	LINS1	55180	HP:0000752	Hyperactivity
OMIM:613192	LINS1	55180	HP:0001956	Truncal obesity
OMIM:613192	LINS1	55180	HP:0000316	Hypertelorism
OMIM:613192	LINS1	55180	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	LINS1	55180	HP:0003593	Infantile onset
OMIM:613192	LINS1	55180	HP:0000204	Cleft upper lip
OMIM:613192	LINS1	55180	HP:0005484	Postnatal microcephaly
OMIM:613192	LINS1	55180	HP:0000431	Wide nasal bridge
OMIM:613192	LINS1	55180	HP:0001250	Seizures
OMIM:613192	LINS1	55180	HP:0000322	Short philtrum
OMIM:613192	LINS1	55180	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	NDST1	3340	HP:0002714	Downturned corners of mouth
OMIM:613192	NDST1	3340	HP:0000664	Synophrys
OMIM:613192	NDST1	3340	HP:0000007	Autosomal recessive inheritance
OMIM:613192	NDST1	3340	HP:0000601	Hypotelorism
OMIM:613192	NDST1	3340	HP:0000470	Short neck
OMIM:613192	NDST1	3340	HP:0001249	Intellectual disability
OMIM:613192	NDST1	3340	HP:0000319	Smooth philtrum
OMIM:613192	NDST1	3340	HP:0000752	Hyperactivity
OMIM:613192	NDST1	3340	HP:0001956	Truncal obesity
OMIM:613192	NDST1	3340	HP:0000316	Hypertelorism
OMIM:613192	NDST1	3340	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	NDST1	3340	HP:0003593	Infantile onset
OMIM:613192	NDST1	3340	HP:0000204	Cleft upper lip
OMIM:613192	NDST1	3340	HP:0005484	Postnatal microcephaly
OMIM:613192	NDST1	3340	HP:0000431	Wide nasal bridge
OMIM:613192	NDST1	3340	HP:0001250	Seizures
OMIM:613192	NDST1	3340	HP:0000322	Short philtrum
OMIM:613192	NDST1	3340	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	CC2D1A	54862	HP:0002714	Downturned corners of mouth
OMIM:613192	CC2D1A	54862	HP:0000664	Synophrys
OMIM:613192	CC2D1A	54862	HP:0000007	Autosomal recessive inheritance
OMIM:613192	CC2D1A	54862	HP:0000601	Hypotelorism
OMIM:613192	CC2D1A	54862	HP:0000470	Short neck
OMIM:613192	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:613192	CC2D1A	54862	HP:0000319	Smooth philtrum
OMIM:613192	CC2D1A	54862	HP:0000752	Hyperactivity
OMIM:613192	CC2D1A	54862	HP:0001956	Truncal obesity
OMIM:613192	CC2D1A	54862	HP:0000316	Hypertelorism
OMIM:613192	CC2D1A	54862	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	CC2D1A	54862	HP:0003593	Infantile onset
OMIM:613192	CC2D1A	54862	HP:0000204	Cleft upper lip
OMIM:613192	CC2D1A	54862	HP:0005484	Postnatal microcephaly
OMIM:613192	CC2D1A	54862	HP:0000431	Wide nasal bridge
OMIM:613192	CC2D1A	54862	HP:0001250	Seizures
OMIM:613192	CC2D1A	54862	HP:0000322	Short philtrum
OMIM:613192	CC2D1A	54862	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	FBXO31	79791	HP:0002714	Downturned corners of mouth
OMIM:613192	FBXO31	79791	HP:0000664	Synophrys
OMIM:613192	FBXO31	79791	HP:0000007	Autosomal recessive inheritance
OMIM:613192	FBXO31	79791	HP:0000601	Hypotelorism
OMIM:613192	FBXO31	79791	HP:0000470	Short neck
OMIM:613192	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:613192	FBXO31	79791	HP:0000319	Smooth philtrum
OMIM:613192	FBXO31	79791	HP:0000752	Hyperactivity
OMIM:613192	FBXO31	79791	HP:0001956	Truncal obesity
OMIM:613192	FBXO31	79791	HP:0000316	Hypertelorism
OMIM:613192	FBXO31	79791	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	FBXO31	79791	HP:0003593	Infantile onset
OMIM:613192	FBXO31	79791	HP:0000204	Cleft upper lip
OMIM:613192	FBXO31	79791	HP:0005484	Postnatal microcephaly
OMIM:613192	FBXO31	79791	HP:0000431	Wide nasal bridge
OMIM:613192	FBXO31	79791	HP:0001250	Seizures
OMIM:613192	FBXO31	79791	HP:0000322	Short philtrum
OMIM:613192	FBXO31	79791	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	TRAPPC9	83696	HP:0002714	Downturned corners of mouth
OMIM:613192	TRAPPC9	83696	HP:0000664	Synophrys
OMIM:613192	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:613192	TRAPPC9	83696	HP:0000601	Hypotelorism
OMIM:613192	TRAPPC9	83696	HP:0000470	Short neck
OMIM:613192	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:613192	TRAPPC9	83696	HP:0000319	Smooth philtrum
OMIM:613192	TRAPPC9	83696	HP:0000752	Hyperactivity
OMIM:613192	TRAPPC9	83696	HP:0001956	Truncal obesity
OMIM:613192	TRAPPC9	83696	HP:0000316	Hypertelorism
OMIM:613192	TRAPPC9	83696	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	TRAPPC9	83696	HP:0003593	Infantile onset
OMIM:613192	TRAPPC9	83696	HP:0000204	Cleft upper lip
OMIM:613192	TRAPPC9	83696	HP:0005484	Postnatal microcephaly
OMIM:613192	TRAPPC9	83696	HP:0000431	Wide nasal bridge
OMIM:613192	TRAPPC9	83696	HP:0001250	Seizures
OMIM:613192	TRAPPC9	83696	HP:0000322	Short philtrum
OMIM:613192	TRAPPC9	83696	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	CRBN	51185	HP:0002714	Downturned corners of mouth
OMIM:613192	CRBN	51185	HP:0000664	Synophrys
OMIM:613192	CRBN	51185	HP:0000007	Autosomal recessive inheritance
OMIM:613192	CRBN	51185	HP:0000601	Hypotelorism
OMIM:613192	CRBN	51185	HP:0000470	Short neck
OMIM:613192	CRBN	51185	HP:0001249	Intellectual disability
OMIM:613192	CRBN	51185	HP:0000319	Smooth philtrum
OMIM:613192	CRBN	51185	HP:0000752	Hyperactivity
OMIM:613192	CRBN	51185	HP:0001956	Truncal obesity
OMIM:613192	CRBN	51185	HP:0000316	Hypertelorism
OMIM:613192	CRBN	51185	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	CRBN	51185	HP:0003593	Infantile onset
OMIM:613192	CRBN	51185	HP:0000204	Cleft upper lip
OMIM:613192	CRBN	51185	HP:0005484	Postnatal microcephaly
OMIM:613192	CRBN	51185	HP:0000431	Wide nasal bridge
OMIM:613192	CRBN	51185	HP:0001250	Seizures
OMIM:613192	CRBN	51185	HP:0000322	Short philtrum
OMIM:613192	CRBN	51185	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	GRIK2	2898	HP:0002714	Downturned corners of mouth
OMIM:613192	GRIK2	2898	HP:0000664	Synophrys
OMIM:613192	GRIK2	2898	HP:0000007	Autosomal recessive inheritance
OMIM:613192	GRIK2	2898	HP:0000601	Hypotelorism
OMIM:613192	GRIK2	2898	HP:0000470	Short neck
OMIM:613192	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:613192	GRIK2	2898	HP:0000319	Smooth philtrum
OMIM:613192	GRIK2	2898	HP:0000752	Hyperactivity
OMIM:613192	GRIK2	2898	HP:0001956	Truncal obesity
OMIM:613192	GRIK2	2898	HP:0000316	Hypertelorism
OMIM:613192	GRIK2	2898	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	GRIK2	2898	HP:0003593	Infantile onset
OMIM:613192	GRIK2	2898	HP:0000204	Cleft upper lip
OMIM:613192	GRIK2	2898	HP:0005484	Postnatal microcephaly
OMIM:613192	GRIK2	2898	HP:0000431	Wide nasal bridge
OMIM:613192	GRIK2	2898	HP:0001250	Seizures
OMIM:613192	GRIK2	2898	HP:0000322	Short philtrum
OMIM:613192	GRIK2	2898	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	SLC6A17	388662	HP:0002714	Downturned corners of mouth
OMIM:613192	SLC6A17	388662	HP:0000664	Synophrys
OMIM:613192	SLC6A17	388662	HP:0000007	Autosomal recessive inheritance
OMIM:613192	SLC6A17	388662	HP:0000601	Hypotelorism
OMIM:613192	SLC6A17	388662	HP:0000470	Short neck
OMIM:613192	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:613192	SLC6A17	388662	HP:0000319	Smooth philtrum
OMIM:613192	SLC6A17	388662	HP:0000752	Hyperactivity
OMIM:613192	SLC6A17	388662	HP:0001956	Truncal obesity
OMIM:613192	SLC6A17	388662	HP:0000316	Hypertelorism
OMIM:613192	SLC6A17	388662	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	SLC6A17	388662	HP:0003593	Infantile onset
OMIM:613192	SLC6A17	388662	HP:0000204	Cleft upper lip
OMIM:613192	SLC6A17	388662	HP:0005484	Postnatal microcephaly
OMIM:613192	SLC6A17	388662	HP:0000431	Wide nasal bridge
OMIM:613192	SLC6A17	388662	HP:0001250	Seizures
OMIM:613192	SLC6A17	388662	HP:0000322	Short philtrum
OMIM:613192	SLC6A17	388662	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	TECR	9524	HP:0002714	Downturned corners of mouth
OMIM:613192	TECR	9524	HP:0000664	Synophrys
OMIM:613192	TECR	9524	HP:0000007	Autosomal recessive inheritance
OMIM:613192	TECR	9524	HP:0000601	Hypotelorism
OMIM:613192	TECR	9524	HP:0000470	Short neck
OMIM:613192	TECR	9524	HP:0001249	Intellectual disability
OMIM:613192	TECR	9524	HP:0000319	Smooth philtrum
OMIM:613192	TECR	9524	HP:0000752	Hyperactivity
OMIM:613192	TECR	9524	HP:0001956	Truncal obesity
OMIM:613192	TECR	9524	HP:0000316	Hypertelorism
OMIM:613192	TECR	9524	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	TECR	9524	HP:0003593	Infantile onset
OMIM:613192	TECR	9524	HP:0000204	Cleft upper lip
OMIM:613192	TECR	9524	HP:0005484	Postnatal microcephaly
OMIM:613192	TECR	9524	HP:0000431	Wide nasal bridge
OMIM:613192	TECR	9524	HP:0001250	Seizures
OMIM:613192	TECR	9524	HP:0000322	Short philtrum
OMIM:613192	TECR	9524	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	MAN1B1	11253	HP:0002714	Downturned corners of mouth
OMIM:613192	MAN1B1	11253	HP:0000664	Synophrys
OMIM:613192	MAN1B1	11253	HP:0000007	Autosomal recessive inheritance
OMIM:613192	MAN1B1	11253	HP:0000601	Hypotelorism
OMIM:613192	MAN1B1	11253	HP:0000470	Short neck
OMIM:613192	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:613192	MAN1B1	11253	HP:0000319	Smooth philtrum
OMIM:613192	MAN1B1	11253	HP:0000752	Hyperactivity
OMIM:613192	MAN1B1	11253	HP:0001956	Truncal obesity
OMIM:613192	MAN1B1	11253	HP:0000316	Hypertelorism
OMIM:613192	MAN1B1	11253	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	MAN1B1	11253	HP:0003593	Infantile onset
OMIM:613192	MAN1B1	11253	HP:0000204	Cleft upper lip
OMIM:613192	MAN1B1	11253	HP:0005484	Postnatal microcephaly
OMIM:613192	MAN1B1	11253	HP:0000431	Wide nasal bridge
OMIM:613192	MAN1B1	11253	HP:0001250	Seizures
OMIM:613192	MAN1B1	11253	HP:0000322	Short philtrum
OMIM:613192	MAN1B1	11253	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	TUSC3	7991	HP:0002714	Downturned corners of mouth
OMIM:613192	TUSC3	7991	HP:0000664	Synophrys
OMIM:613192	TUSC3	7991	HP:0000007	Autosomal recessive inheritance
OMIM:613192	TUSC3	7991	HP:0000601	Hypotelorism
OMIM:613192	TUSC3	7991	HP:0000470	Short neck
OMIM:613192	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:613192	TUSC3	7991	HP:0000319	Smooth philtrum
OMIM:613192	TUSC3	7991	HP:0000752	Hyperactivity
OMIM:613192	TUSC3	7991	HP:0001956	Truncal obesity
OMIM:613192	TUSC3	7991	HP:0000316	Hypertelorism
OMIM:613192	TUSC3	7991	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	TUSC3	7991	HP:0003593	Infantile onset
OMIM:613192	TUSC3	7991	HP:0000204	Cleft upper lip
OMIM:613192	TUSC3	7991	HP:0005484	Postnatal microcephaly
OMIM:613192	TUSC3	7991	HP:0000431	Wide nasal bridge
OMIM:613192	TUSC3	7991	HP:0001250	Seizures
OMIM:613192	TUSC3	7991	HP:0000322	Short philtrum
OMIM:613192	TUSC3	7991	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	ST3GAL3	6487	HP:0002714	Downturned corners of mouth
OMIM:613192	ST3GAL3	6487	HP:0000664	Synophrys
OMIM:613192	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:613192	ST3GAL3	6487	HP:0000601	Hypotelorism
OMIM:613192	ST3GAL3	6487	HP:0000470	Short neck
OMIM:613192	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:613192	ST3GAL3	6487	HP:0000319	Smooth philtrum
OMIM:613192	ST3GAL3	6487	HP:0000752	Hyperactivity
OMIM:613192	ST3GAL3	6487	HP:0001956	Truncal obesity
OMIM:613192	ST3GAL3	6487	HP:0000316	Hypertelorism
OMIM:613192	ST3GAL3	6487	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	ST3GAL3	6487	HP:0003593	Infantile onset
OMIM:613192	ST3GAL3	6487	HP:0000204	Cleft upper lip
OMIM:613192	ST3GAL3	6487	HP:0005484	Postnatal microcephaly
OMIM:613192	ST3GAL3	6487	HP:0000431	Wide nasal bridge
OMIM:613192	ST3GAL3	6487	HP:0001250	Seizures
OMIM:613192	ST3GAL3	6487	HP:0000322	Short philtrum
OMIM:613192	ST3GAL3	6487	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	EDC3	80153	HP:0002714	Downturned corners of mouth
OMIM:613192	EDC3	80153	HP:0000664	Synophrys
OMIM:613192	EDC3	80153	HP:0000007	Autosomal recessive inheritance
OMIM:613192	EDC3	80153	HP:0000601	Hypotelorism
OMIM:613192	EDC3	80153	HP:0000470	Short neck
OMIM:613192	EDC3	80153	HP:0001249	Intellectual disability
OMIM:613192	EDC3	80153	HP:0000319	Smooth philtrum
OMIM:613192	EDC3	80153	HP:0000752	Hyperactivity
OMIM:613192	EDC3	80153	HP:0001956	Truncal obesity
OMIM:613192	EDC3	80153	HP:0000316	Hypertelorism
OMIM:613192	EDC3	80153	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	EDC3	80153	HP:0003593	Infantile onset
OMIM:613192	EDC3	80153	HP:0000204	Cleft upper lip
OMIM:613192	EDC3	80153	HP:0005484	Postnatal microcephaly
OMIM:613192	EDC3	80153	HP:0000431	Wide nasal bridge
OMIM:613192	EDC3	80153	HP:0001250	Seizures
OMIM:613192	EDC3	80153	HP:0000322	Short philtrum
OMIM:613192	EDC3	80153	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	MED13L	23389	HP:0002714	Downturned corners of mouth
OMIM:613192	MED13L	23389	HP:0000664	Synophrys
OMIM:613192	MED13L	23389	HP:0000007	Autosomal recessive inheritance
OMIM:613192	MED13L	23389	HP:0000601	Hypotelorism
OMIM:613192	MED13L	23389	HP:0000470	Short neck
OMIM:613192	MED13L	23389	HP:0001249	Intellectual disability
OMIM:613192	MED13L	23389	HP:0000319	Smooth philtrum
OMIM:613192	MED13L	23389	HP:0000752	Hyperactivity
OMIM:613192	MED13L	23389	HP:0001956	Truncal obesity
OMIM:613192	MED13L	23389	HP:0000316	Hypertelorism
OMIM:613192	MED13L	23389	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	MED13L	23389	HP:0003593	Infantile onset
OMIM:613192	MED13L	23389	HP:0000204	Cleft upper lip
OMIM:613192	MED13L	23389	HP:0005484	Postnatal microcephaly
OMIM:613192	MED13L	23389	HP:0000431	Wide nasal bridge
OMIM:613192	MED13L	23389	HP:0001250	Seizures
OMIM:613192	MED13L	23389	HP:0000322	Short philtrum
OMIM:613192	MED13L	23389	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	KIAA1033	23325	HP:0002714	Downturned corners of mouth
OMIM:613192	KIAA1033	23325	HP:0000664	Synophrys
OMIM:613192	KIAA1033	23325	HP:0000007	Autosomal recessive inheritance
OMIM:613192	KIAA1033	23325	HP:0000601	Hypotelorism
OMIM:613192	KIAA1033	23325	HP:0000470	Short neck
OMIM:613192	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:613192	KIAA1033	23325	HP:0000319	Smooth philtrum
OMIM:613192	KIAA1033	23325	HP:0000752	Hyperactivity
OMIM:613192	KIAA1033	23325	HP:0001956	Truncal obesity
OMIM:613192	KIAA1033	23325	HP:0000316	Hypertelorism
OMIM:613192	KIAA1033	23325	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	KIAA1033	23325	HP:0003593	Infantile onset
OMIM:613192	KIAA1033	23325	HP:0000204	Cleft upper lip
OMIM:613192	KIAA1033	23325	HP:0005484	Postnatal microcephaly
OMIM:613192	KIAA1033	23325	HP:0000431	Wide nasal bridge
OMIM:613192	KIAA1033	23325	HP:0001250	Seizures
OMIM:613192	KIAA1033	23325	HP:0000322	Short philtrum
OMIM:613192	KIAA1033	23325	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	MED23	9439	HP:0002714	Downturned corners of mouth
OMIM:613192	MED23	9439	HP:0000664	Synophrys
OMIM:613192	MED23	9439	HP:0000007	Autosomal recessive inheritance
OMIM:613192	MED23	9439	HP:0000601	Hypotelorism
OMIM:613192	MED23	9439	HP:0000470	Short neck
OMIM:613192	MED23	9439	HP:0001249	Intellectual disability
OMIM:613192	MED23	9439	HP:0000319	Smooth philtrum
OMIM:613192	MED23	9439	HP:0000752	Hyperactivity
OMIM:613192	MED23	9439	HP:0001956	Truncal obesity
OMIM:613192	MED23	9439	HP:0000316	Hypertelorism
OMIM:613192	MED23	9439	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	MED23	9439	HP:0003593	Infantile onset
OMIM:613192	MED23	9439	HP:0000204	Cleft upper lip
OMIM:613192	MED23	9439	HP:0005484	Postnatal microcephaly
OMIM:613192	MED23	9439	HP:0000431	Wide nasal bridge
OMIM:613192	MED23	9439	HP:0001250	Seizures
OMIM:613192	MED23	9439	HP:0000322	Short philtrum
OMIM:613192	MED23	9439	HP:0002079	Hypoplasia of the corpus callosum
OMIM:610725	PLCE1	51196	HP:0000007	Autosomal recessive inheritance
OMIM:610725	PLCE1	51196	HP:0003774	Stage 5 chronic kidney disease
OMIM:610725	PLCE1	51196	HP:0000093	Proteinuria
OMIM:610725	PLCE1	51196	HP:0003073	Hypoalbuminemia
OMIM:610725	PLCE1	51196	HP:0000969	Edema
OMIM:610725	PLCE1	51196	HP:0003676	Progressive
OMIM:610725	PLCE1	51196	HP:0000100	Nephrotic syndrome
OMIM:610725	PLCE1	51196	HP:0000097	Focal segmental glomerulosclerosis
OMIM:610725	PLCE1	51196	HP:0011463	Childhood onset
OMIM:130600	EPB41	2035	HP:0000006	Autosomal dominant inheritance
OMIM:130600	EPB41	2035	HP:0001425	Heterogeneous
OMIM:130600	GYPC	2995	HP:0000006	Autosomal dominant inheritance
OMIM:130600	GYPC	2995	HP:0001425	Heterogeneous
OMIM:130600	SPTA1	6708	HP:0000006	Autosomal dominant inheritance
OMIM:130600	SPTA1	6708	HP:0001425	Heterogeneous
OMIM:130600	SPTB	6710	HP:0000006	Autosomal dominant inheritance
OMIM:130600	SPTB	6710	HP:0001425	Heterogeneous
ORPHANET:199	SMC1A	8243	HP:0009830	Peripheral neuropathy
ORPHANET:199	SMC1A	8243	HP:0004279	Short palm
ORPHANET:199	SMC1A	8243	HP:0000463	Anteverted nares
ORPHANET:199	SMC1A	8243	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:199	SMC1A	8243	HP:0001770	Toe syndactyly
ORPHANET:199	SMC1A	8243	HP:0002553	Highly arched eyebrow
ORPHANET:199	SMC1A	8243	HP:0000252	Microcephaly
ORPHANET:199	SMC1A	8243	HP:0000453	Choanal atresia
ORPHANET:199	SMC1A	8243	HP:0001883	Talipes
ORPHANET:199	SMC1A	8243	HP:0000486	Strabismus
ORPHANET:199	SMC1A	8243	HP:0002974	Radioulnar synostosis
ORPHANET:199	SMC1A	8243	HP:0000407	Sensorineural hearing impairment
ORPHANET:199	SMC1A	8243	HP:0001511	Intrauterine growth retardation
ORPHANET:199	SMC1A	8243	HP:0008736	Hypoplasia of penis
ORPHANET:199	SMC1A	8243	HP:0000639	Nystagmus
ORPHANET:199	SMC1A	8243	HP:0000003	Multicystic kidney dysplasia
ORPHANET:199	SMC1A	8243	HP:0000545	Myopia
ORPHANET:199	SMC1A	8243	HP:0000965	Cutis marmorata
ORPHANET:199	SMC1A	8243	HP:0000233	Thin vermilion border
ORPHANET:199	SMC1A	8243	HP:0000028	Cryptorchidism
ORPHANET:199	SMC1A	8243	HP:0000400	Macrotia
ORPHANET:199	SMC1A	8243	HP:0002648	Abnormality of calvarial morphology
ORPHANET:199	SMC1A	8243	HP:0000518	Cataract
ORPHANET:199	SMC1A	8243	HP:0000175	Cleft palate
ORPHANET:199	SMC1A	8243	HP:0000499	Abnormality of the eyelashes
ORPHANET:199	SMC1A	8243	HP:0001956	Truncal obesity
ORPHANET:199	SMC1A	8243	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:199	SMC1A	8243	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHANET:199	SMC1A	8243	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:199	SMC1A	8243	HP:0000405	Conductive hearing impairment
ORPHANET:199	SMC1A	8243	HP:0002167	Neurological speech impairment
ORPHANET:199	SMC1A	8243	HP:0002714	Downturned corners of mouth
ORPHANET:199	SMC1A	8243	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:199	SMC1A	8243	HP:0003196	Short nose
ORPHANET:199	SMC1A	8243	HP:0001608	Abnormality of the voice
ORPHANET:199	SMC1A	8243	HP:0000664	Synophrys
ORPHANET:199	SMC1A	8243	HP:0005280	Depressed nasal bridge
ORPHANET:199	SMC1A	8243	HP:0000076	Vesicoureteral reflux
ORPHANET:199	SMC1A	8243	HP:0000343	Long philtrum
ORPHANET:199	SMC1A	8243	HP:0002120	Cerebral cortical atrophy
ORPHANET:199	SMC1A	8243	HP:0000574	Thick eyebrow
ORPHANET:199	SMC1A	8243	HP:0000482	Microcornea
ORPHANET:199	SMC1A	8243	HP:0000413	Atresia of the external auditory canal
ORPHANET:199	SMC1A	8243	HP:0001276	Hypertonia
ORPHANET:199	SMC1A	8243	HP:0004322	Short stature
ORPHANET:199	SMC1A	8243	HP:0000954	Single transverse palmar crease
ORPHANET:199	SMC1A	8243	HP:0002360	Sleep disturbance
ORPHANET:199	SMC1A	8243	HP:0002119	Ventriculomegaly
ORPHANET:199	SMC1A	8243	HP:0002566	Intestinal malrotation
ORPHANET:199	SMC1A	8243	HP:0001831	Short toe
ORPHANET:199	SMC1A	8243	HP:0000470	Short neck
ORPHANET:199	SMC1A	8243	HP:0010880	Increased nuchal translucency
ORPHANET:199	SMC1A	8243	HP:0000055	Abnormality of female external genitalia
ORPHANET:199	SMC1A	8243	HP:0002983	Micromelia
ORPHANET:199	SMC1A	8243	HP:0000684	Delayed eruption of teeth
ORPHANET:199	SMC1A	8243	HP:0001250	Seizures
ORPHANET:199	SMC1A	8243	HP:0000083	Renal insufficiency
ORPHANET:199	SMC1A	8243	HP:0000717	Autism
ORPHANET:199	SMC1A	8243	HP:0001557	Prenatal movement abnormality
ORPHANET:199	SMC1A	8243	HP:0009623	Proximal placement of thumb
ORPHANET:199	SMC1A	8243	HP:0003272	Abnormality of the hip bone
ORPHANET:199	SMC1A	8243	HP:0001376	Limitation of joint mobility
ORPHANET:199	SMC1A	8243	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:199	SMC1A	8243	HP:0001629	Ventricular septal defect
ORPHANET:199	SMC1A	8243	HP:0000501	Glaucoma
ORPHANET:199	SMC1A	8243	HP:0000722	Obsessive-compulsive behavior
ORPHANET:199	SMC1A	8243	HP:0002162	Low posterior hairline
ORPHANET:199	SMC1A	8243	HP:0000498	Blepharitis
ORPHANET:199	SMC1A	8243	HP:0000294	Low anterior hairline
ORPHANET:199	SMC1A	8243	HP:0000786	Primary amenorrhea
ORPHANET:199	SMC1A	8243	HP:0001171	Split hand
ORPHANET:199	SMC1A	8243	HP:0009804	Reduced number of teeth
ORPHANET:199	SMC1A	8243	HP:0003042	Elbow dislocation
ORPHANET:199	SMC1A	8243	HP:0002021	Pyloric stenosis
ORPHANET:199	SMC1A	8243	HP:0100543	Cognitive impairment
ORPHANET:199	SMC1A	8243	HP:0000508	Ptosis
ORPHANET:199	SMC1A	8243	HP:0001631	Atria septal defect
ORPHANET:199	SMC1A	8243	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:199	SMC1A	8243	HP:0000347	Micrognathia
ORPHANET:199	SMC1A	8243	HP:0000767	Pectus excavatum
ORPHANET:199	SMC1A	8243	HP:0002750	Delayed skeletal maturation
ORPHANET:199	SMC1A	8243	HP:0001252	Muscular hypotonia
ORPHANET:199	SMC1A	8243	HP:0001622	Premature birth
ORPHANET:199	SMC1A	8243	HP:0100627	Displacement of the external urethral meatus
ORPHANET:199	SMC3	9126	HP:0009830	Peripheral neuropathy
ORPHANET:199	SMC3	9126	HP:0004279	Short palm
ORPHANET:199	SMC3	9126	HP:0000463	Anteverted nares
ORPHANET:199	SMC3	9126	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:199	SMC3	9126	HP:0001770	Toe syndactyly
ORPHANET:199	SMC3	9126	HP:0002553	Highly arched eyebrow
ORPHANET:199	SMC3	9126	HP:0000252	Microcephaly
ORPHANET:199	SMC3	9126	HP:0000453	Choanal atresia
ORPHANET:199	SMC3	9126	HP:0001883	Talipes
ORPHANET:199	SMC3	9126	HP:0000486	Strabismus
ORPHANET:199	SMC3	9126	HP:0002974	Radioulnar synostosis
ORPHANET:199	SMC3	9126	HP:0000407	Sensorineural hearing impairment
ORPHANET:199	SMC3	9126	HP:0001511	Intrauterine growth retardation
ORPHANET:199	SMC3	9126	HP:0008736	Hypoplasia of penis
ORPHANET:199	SMC3	9126	HP:0000639	Nystagmus
ORPHANET:199	SMC3	9126	HP:0000003	Multicystic kidney dysplasia
ORPHANET:199	SMC3	9126	HP:0000545	Myopia
ORPHANET:199	SMC3	9126	HP:0000965	Cutis marmorata
ORPHANET:199	SMC3	9126	HP:0000233	Thin vermilion border
ORPHANET:199	SMC3	9126	HP:0000028	Cryptorchidism
ORPHANET:199	SMC3	9126	HP:0000400	Macrotia
ORPHANET:199	SMC3	9126	HP:0002648	Abnormality of calvarial morphology
ORPHANET:199	SMC3	9126	HP:0000518	Cataract
ORPHANET:199	SMC3	9126	HP:0000175	Cleft palate
ORPHANET:199	SMC3	9126	HP:0000499	Abnormality of the eyelashes
ORPHANET:199	SMC3	9126	HP:0001956	Truncal obesity
ORPHANET:199	SMC3	9126	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:199	SMC3	9126	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHANET:199	SMC3	9126	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:199	SMC3	9126	HP:0000405	Conductive hearing impairment
ORPHANET:199	SMC3	9126	HP:0002167	Neurological speech impairment
ORPHANET:199	SMC3	9126	HP:0002714	Downturned corners of mouth
ORPHANET:199	SMC3	9126	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:199	SMC3	9126	HP:0003196	Short nose
ORPHANET:199	SMC3	9126	HP:0001608	Abnormality of the voice
ORPHANET:199	SMC3	9126	HP:0000664	Synophrys
ORPHANET:199	SMC3	9126	HP:0005280	Depressed nasal bridge
ORPHANET:199	SMC3	9126	HP:0000076	Vesicoureteral reflux
ORPHANET:199	SMC3	9126	HP:0000343	Long philtrum
ORPHANET:199	SMC3	9126	HP:0002120	Cerebral cortical atrophy
ORPHANET:199	SMC3	9126	HP:0000574	Thick eyebrow
ORPHANET:199	SMC3	9126	HP:0000482	Microcornea
ORPHANET:199	SMC3	9126	HP:0000413	Atresia of the external auditory canal
ORPHANET:199	SMC3	9126	HP:0001276	Hypertonia
ORPHANET:199	SMC3	9126	HP:0004322	Short stature
ORPHANET:199	SMC3	9126	HP:0000954	Single transverse palmar crease
ORPHANET:199	SMC3	9126	HP:0002360	Sleep disturbance
ORPHANET:199	SMC3	9126	HP:0002119	Ventriculomegaly
ORPHANET:199	SMC3	9126	HP:0002566	Intestinal malrotation
ORPHANET:199	SMC3	9126	HP:0001831	Short toe
ORPHANET:199	SMC3	9126	HP:0000470	Short neck
ORPHANET:199	SMC3	9126	HP:0010880	Increased nuchal translucency
ORPHANET:199	SMC3	9126	HP:0000055	Abnormality of female external genitalia
ORPHANET:199	SMC3	9126	HP:0002983	Micromelia
ORPHANET:199	SMC3	9126	HP:0000684	Delayed eruption of teeth
ORPHANET:199	SMC3	9126	HP:0001250	Seizures
ORPHANET:199	SMC3	9126	HP:0000083	Renal insufficiency
ORPHANET:199	SMC3	9126	HP:0000717	Autism
ORPHANET:199	SMC3	9126	HP:0001557	Prenatal movement abnormality
ORPHANET:199	SMC3	9126	HP:0009623	Proximal placement of thumb
ORPHANET:199	SMC3	9126	HP:0003272	Abnormality of the hip bone
ORPHANET:199	SMC3	9126	HP:0001376	Limitation of joint mobility
ORPHANET:199	SMC3	9126	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:199	SMC3	9126	HP:0001629	Ventricular septal defect
ORPHANET:199	SMC3	9126	HP:0000501	Glaucoma
ORPHANET:199	SMC3	9126	HP:0000722	Obsessive-compulsive behavior
ORPHANET:199	SMC3	9126	HP:0002162	Low posterior hairline
ORPHANET:199	SMC3	9126	HP:0000498	Blepharitis
ORPHANET:199	SMC3	9126	HP:0000294	Low anterior hairline
ORPHANET:199	SMC3	9126	HP:0000786	Primary amenorrhea
ORPHANET:199	SMC3	9126	HP:0001171	Split hand
ORPHANET:199	SMC3	9126	HP:0009804	Reduced number of teeth
ORPHANET:199	SMC3	9126	HP:0003042	Elbow dislocation
ORPHANET:199	SMC3	9126	HP:0002021	Pyloric stenosis
ORPHANET:199	SMC3	9126	HP:0100543	Cognitive impairment
ORPHANET:199	SMC3	9126	HP:0000508	Ptosis
ORPHANET:199	SMC3	9126	HP:0001631	Atria septal defect
ORPHANET:199	SMC3	9126	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:199	SMC3	9126	HP:0000347	Micrognathia
ORPHANET:199	SMC3	9126	HP:0000767	Pectus excavatum
ORPHANET:199	SMC3	9126	HP:0002750	Delayed skeletal maturation
ORPHANET:199	SMC3	9126	HP:0001252	Muscular hypotonia
ORPHANET:199	SMC3	9126	HP:0001622	Premature birth
ORPHANET:199	SMC3	9126	HP:0100627	Displacement of the external urethral meatus
ORPHANET:199	NIPBL	25836	HP:0009830	Peripheral neuropathy
ORPHANET:199	NIPBL	25836	HP:0004279	Short palm
ORPHANET:199	NIPBL	25836	HP:0000463	Anteverted nares
ORPHANET:199	NIPBL	25836	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:199	NIPBL	25836	HP:0001770	Toe syndactyly
ORPHANET:199	NIPBL	25836	HP:0002553	Highly arched eyebrow
ORPHANET:199	NIPBL	25836	HP:0000252	Microcephaly
ORPHANET:199	NIPBL	25836	HP:0000453	Choanal atresia
ORPHANET:199	NIPBL	25836	HP:0001883	Talipes
ORPHANET:199	NIPBL	25836	HP:0000486	Strabismus
ORPHANET:199	NIPBL	25836	HP:0002974	Radioulnar synostosis
ORPHANET:199	NIPBL	25836	HP:0000407	Sensorineural hearing impairment
ORPHANET:199	NIPBL	25836	HP:0001511	Intrauterine growth retardation
ORPHANET:199	NIPBL	25836	HP:0008736	Hypoplasia of penis
ORPHANET:199	NIPBL	25836	HP:0000639	Nystagmus
ORPHANET:199	NIPBL	25836	HP:0000003	Multicystic kidney dysplasia
ORPHANET:199	NIPBL	25836	HP:0000545	Myopia
ORPHANET:199	NIPBL	25836	HP:0000965	Cutis marmorata
ORPHANET:199	NIPBL	25836	HP:0000233	Thin vermilion border
ORPHANET:199	NIPBL	25836	HP:0000028	Cryptorchidism
ORPHANET:199	NIPBL	25836	HP:0000400	Macrotia
ORPHANET:199	NIPBL	25836	HP:0002648	Abnormality of calvarial morphology
ORPHANET:199	NIPBL	25836	HP:0000518	Cataract
ORPHANET:199	NIPBL	25836	HP:0000175	Cleft palate
ORPHANET:199	NIPBL	25836	HP:0000499	Abnormality of the eyelashes
ORPHANET:199	NIPBL	25836	HP:0001956	Truncal obesity
ORPHANET:199	NIPBL	25836	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:199	NIPBL	25836	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHANET:199	NIPBL	25836	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:199	NIPBL	25836	HP:0000405	Conductive hearing impairment
ORPHANET:199	NIPBL	25836	HP:0002167	Neurological speech impairment
ORPHANET:199	NIPBL	25836	HP:0002714	Downturned corners of mouth
ORPHANET:199	NIPBL	25836	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:199	NIPBL	25836	HP:0003196	Short nose
ORPHANET:199	NIPBL	25836	HP:0001608	Abnormality of the voice
ORPHANET:199	NIPBL	25836	HP:0000664	Synophrys
ORPHANET:199	NIPBL	25836	HP:0005280	Depressed nasal bridge
ORPHANET:199	NIPBL	25836	HP:0000076	Vesicoureteral reflux
ORPHANET:199	NIPBL	25836	HP:0000343	Long philtrum
ORPHANET:199	NIPBL	25836	HP:0002120	Cerebral cortical atrophy
ORPHANET:199	NIPBL	25836	HP:0000574	Thick eyebrow
ORPHANET:199	NIPBL	25836	HP:0000482	Microcornea
ORPHANET:199	NIPBL	25836	HP:0000413	Atresia of the external auditory canal
ORPHANET:199	NIPBL	25836	HP:0001276	Hypertonia
ORPHANET:199	NIPBL	25836	HP:0004322	Short stature
ORPHANET:199	NIPBL	25836	HP:0000954	Single transverse palmar crease
ORPHANET:199	NIPBL	25836	HP:0002360	Sleep disturbance
ORPHANET:199	NIPBL	25836	HP:0002119	Ventriculomegaly
ORPHANET:199	NIPBL	25836	HP:0002566	Intestinal malrotation
ORPHANET:199	NIPBL	25836	HP:0001831	Short toe
ORPHANET:199	NIPBL	25836	HP:0000470	Short neck
ORPHANET:199	NIPBL	25836	HP:0010880	Increased nuchal translucency
ORPHANET:199	NIPBL	25836	HP:0000055	Abnormality of female external genitalia
ORPHANET:199	NIPBL	25836	HP:0002983	Micromelia
ORPHANET:199	NIPBL	25836	HP:0000684	Delayed eruption of teeth
ORPHANET:199	NIPBL	25836	HP:0001250	Seizures
ORPHANET:199	NIPBL	25836	HP:0000083	Renal insufficiency
ORPHANET:199	NIPBL	25836	HP:0000717	Autism
ORPHANET:199	NIPBL	25836	HP:0001557	Prenatal movement abnormality
ORPHANET:199	NIPBL	25836	HP:0009623	Proximal placement of thumb
ORPHANET:199	NIPBL	25836	HP:0003272	Abnormality of the hip bone
ORPHANET:199	NIPBL	25836	HP:0001376	Limitation of joint mobility
ORPHANET:199	NIPBL	25836	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:199	NIPBL	25836	HP:0001629	Ventricular septal defect
ORPHANET:199	NIPBL	25836	HP:0000501	Glaucoma
ORPHANET:199	NIPBL	25836	HP:0000722	Obsessive-compulsive behavior
ORPHANET:199	NIPBL	25836	HP:0002162	Low posterior hairline
ORPHANET:199	NIPBL	25836	HP:0000498	Blepharitis
ORPHANET:199	NIPBL	25836	HP:0000294	Low anterior hairline
ORPHANET:199	NIPBL	25836	HP:0000786	Primary amenorrhea
ORPHANET:199	NIPBL	25836	HP:0001171	Split hand
ORPHANET:199	NIPBL	25836	HP:0009804	Reduced number of teeth
ORPHANET:199	NIPBL	25836	HP:0003042	Elbow dislocation
ORPHANET:199	NIPBL	25836	HP:0002021	Pyloric stenosis
ORPHANET:199	NIPBL	25836	HP:0100543	Cognitive impairment
ORPHANET:199	NIPBL	25836	HP:0000508	Ptosis
ORPHANET:199	NIPBL	25836	HP:0001631	Atria septal defect
ORPHANET:199	NIPBL	25836	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:199	NIPBL	25836	HP:0000347	Micrognathia
ORPHANET:199	NIPBL	25836	HP:0000767	Pectus excavatum
ORPHANET:199	NIPBL	25836	HP:0002750	Delayed skeletal maturation
ORPHANET:199	NIPBL	25836	HP:0001252	Muscular hypotonia
ORPHANET:199	NIPBL	25836	HP:0001622	Premature birth
ORPHANET:199	NIPBL	25836	HP:0100627	Displacement of the external urethral meatus
ORPHANET:199	HDAC8	55869	HP:0009830	Peripheral neuropathy
ORPHANET:199	HDAC8	55869	HP:0004279	Short palm
ORPHANET:199	HDAC8	55869	HP:0000463	Anteverted nares
ORPHANET:199	HDAC8	55869	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:199	HDAC8	55869	HP:0001770	Toe syndactyly
ORPHANET:199	HDAC8	55869	HP:0002553	Highly arched eyebrow
ORPHANET:199	HDAC8	55869	HP:0000252	Microcephaly
ORPHANET:199	HDAC8	55869	HP:0000453	Choanal atresia
ORPHANET:199	HDAC8	55869	HP:0001883	Talipes
ORPHANET:199	HDAC8	55869	HP:0000486	Strabismus
ORPHANET:199	HDAC8	55869	HP:0002974	Radioulnar synostosis
ORPHANET:199	HDAC8	55869	HP:0000407	Sensorineural hearing impairment
ORPHANET:199	HDAC8	55869	HP:0001511	Intrauterine growth retardation
ORPHANET:199	HDAC8	55869	HP:0008736	Hypoplasia of penis
ORPHANET:199	HDAC8	55869	HP:0000639	Nystagmus
ORPHANET:199	HDAC8	55869	HP:0000003	Multicystic kidney dysplasia
ORPHANET:199	HDAC8	55869	HP:0000545	Myopia
ORPHANET:199	HDAC8	55869	HP:0000965	Cutis marmorata
ORPHANET:199	HDAC8	55869	HP:0000233	Thin vermilion border
ORPHANET:199	HDAC8	55869	HP:0000028	Cryptorchidism
ORPHANET:199	HDAC8	55869	HP:0000400	Macrotia
ORPHANET:199	HDAC8	55869	HP:0002648	Abnormality of calvarial morphology
ORPHANET:199	HDAC8	55869	HP:0000518	Cataract
ORPHANET:199	HDAC8	55869	HP:0000175	Cleft palate
ORPHANET:199	HDAC8	55869	HP:0000499	Abnormality of the eyelashes
ORPHANET:199	HDAC8	55869	HP:0001956	Truncal obesity
ORPHANET:199	HDAC8	55869	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:199	HDAC8	55869	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHANET:199	HDAC8	55869	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:199	HDAC8	55869	HP:0000405	Conductive hearing impairment
ORPHANET:199	HDAC8	55869	HP:0002167	Neurological speech impairment
ORPHANET:199	HDAC8	55869	HP:0002714	Downturned corners of mouth
ORPHANET:199	HDAC8	55869	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:199	HDAC8	55869	HP:0003196	Short nose
ORPHANET:199	HDAC8	55869	HP:0001608	Abnormality of the voice
ORPHANET:199	HDAC8	55869	HP:0000664	Synophrys
ORPHANET:199	HDAC8	55869	HP:0005280	Depressed nasal bridge
ORPHANET:199	HDAC8	55869	HP:0000076	Vesicoureteral reflux
ORPHANET:199	HDAC8	55869	HP:0000343	Long philtrum
ORPHANET:199	HDAC8	55869	HP:0002120	Cerebral cortical atrophy
ORPHANET:199	HDAC8	55869	HP:0000574	Thick eyebrow
ORPHANET:199	HDAC8	55869	HP:0000482	Microcornea
ORPHANET:199	HDAC8	55869	HP:0000413	Atresia of the external auditory canal
ORPHANET:199	HDAC8	55869	HP:0001276	Hypertonia
ORPHANET:199	HDAC8	55869	HP:0004322	Short stature
ORPHANET:199	HDAC8	55869	HP:0000954	Single transverse palmar crease
ORPHANET:199	HDAC8	55869	HP:0002360	Sleep disturbance
ORPHANET:199	HDAC8	55869	HP:0002119	Ventriculomegaly
ORPHANET:199	HDAC8	55869	HP:0002566	Intestinal malrotation
ORPHANET:199	HDAC8	55869	HP:0001831	Short toe
ORPHANET:199	HDAC8	55869	HP:0000470	Short neck
ORPHANET:199	HDAC8	55869	HP:0010880	Increased nuchal translucency
ORPHANET:199	HDAC8	55869	HP:0000055	Abnormality of female external genitalia
ORPHANET:199	HDAC8	55869	HP:0002983	Micromelia
ORPHANET:199	HDAC8	55869	HP:0000684	Delayed eruption of teeth
ORPHANET:199	HDAC8	55869	HP:0001250	Seizures
ORPHANET:199	HDAC8	55869	HP:0000083	Renal insufficiency
ORPHANET:199	HDAC8	55869	HP:0000717	Autism
ORPHANET:199	HDAC8	55869	HP:0001557	Prenatal movement abnormality
ORPHANET:199	HDAC8	55869	HP:0009623	Proximal placement of thumb
ORPHANET:199	HDAC8	55869	HP:0003272	Abnormality of the hip bone
ORPHANET:199	HDAC8	55869	HP:0001376	Limitation of joint mobility
ORPHANET:199	HDAC8	55869	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:199	HDAC8	55869	HP:0001629	Ventricular septal defect
ORPHANET:199	HDAC8	55869	HP:0000501	Glaucoma
ORPHANET:199	HDAC8	55869	HP:0000722	Obsessive-compulsive behavior
ORPHANET:199	HDAC8	55869	HP:0002162	Low posterior hairline
ORPHANET:199	HDAC8	55869	HP:0000498	Blepharitis
ORPHANET:199	HDAC8	55869	HP:0000294	Low anterior hairline
ORPHANET:199	HDAC8	55869	HP:0000786	Primary amenorrhea
ORPHANET:199	HDAC8	55869	HP:0001171	Split hand
ORPHANET:199	HDAC8	55869	HP:0009804	Reduced number of teeth
ORPHANET:199	HDAC8	55869	HP:0003042	Elbow dislocation
ORPHANET:199	HDAC8	55869	HP:0002021	Pyloric stenosis
ORPHANET:199	HDAC8	55869	HP:0100543	Cognitive impairment
ORPHANET:199	HDAC8	55869	HP:0000508	Ptosis
ORPHANET:199	HDAC8	55869	HP:0001631	Atria septal defect
ORPHANET:199	HDAC8	55869	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:199	HDAC8	55869	HP:0000347	Micrognathia
ORPHANET:199	HDAC8	55869	HP:0000767	Pectus excavatum
ORPHANET:199	HDAC8	55869	HP:0002750	Delayed skeletal maturation
ORPHANET:199	HDAC8	55869	HP:0001252	Muscular hypotonia
ORPHANET:199	HDAC8	55869	HP:0001622	Premature birth
ORPHANET:199	HDAC8	55869	HP:0100627	Displacement of the external urethral meatus
ORPHANET:199	RAD21	5885	HP:0009830	Peripheral neuropathy
ORPHANET:199	RAD21	5885	HP:0004279	Short palm
ORPHANET:199	RAD21	5885	HP:0000463	Anteverted nares
ORPHANET:199	RAD21	5885	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:199	RAD21	5885	HP:0001770	Toe syndactyly
ORPHANET:199	RAD21	5885	HP:0002553	Highly arched eyebrow
ORPHANET:199	RAD21	5885	HP:0000252	Microcephaly
ORPHANET:199	RAD21	5885	HP:0000453	Choanal atresia
ORPHANET:199	RAD21	5885	HP:0001883	Talipes
ORPHANET:199	RAD21	5885	HP:0000486	Strabismus
ORPHANET:199	RAD21	5885	HP:0002974	Radioulnar synostosis
ORPHANET:199	RAD21	5885	HP:0000407	Sensorineural hearing impairment
ORPHANET:199	RAD21	5885	HP:0001511	Intrauterine growth retardation
ORPHANET:199	RAD21	5885	HP:0008736	Hypoplasia of penis
ORPHANET:199	RAD21	5885	HP:0000639	Nystagmus
ORPHANET:199	RAD21	5885	HP:0000003	Multicystic kidney dysplasia
ORPHANET:199	RAD21	5885	HP:0000545	Myopia
ORPHANET:199	RAD21	5885	HP:0000965	Cutis marmorata
ORPHANET:199	RAD21	5885	HP:0000233	Thin vermilion border
ORPHANET:199	RAD21	5885	HP:0000028	Cryptorchidism
ORPHANET:199	RAD21	5885	HP:0000400	Macrotia
ORPHANET:199	RAD21	5885	HP:0002648	Abnormality of calvarial morphology
ORPHANET:199	RAD21	5885	HP:0000518	Cataract
ORPHANET:199	RAD21	5885	HP:0000175	Cleft palate
ORPHANET:199	RAD21	5885	HP:0000499	Abnormality of the eyelashes
ORPHANET:199	RAD21	5885	HP:0001956	Truncal obesity
ORPHANET:199	RAD21	5885	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:199	RAD21	5885	HP:0006709	Aplasia/Hypoplasia of the nipples
ORPHANET:199	RAD21	5885	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:199	RAD21	5885	HP:0000405	Conductive hearing impairment
ORPHANET:199	RAD21	5885	HP:0002167	Neurological speech impairment
ORPHANET:199	RAD21	5885	HP:0002714	Downturned corners of mouth
ORPHANET:199	RAD21	5885	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:199	RAD21	5885	HP:0003196	Short nose
ORPHANET:199	RAD21	5885	HP:0001608	Abnormality of the voice
ORPHANET:199	RAD21	5885	HP:0000664	Synophrys
ORPHANET:199	RAD21	5885	HP:0005280	Depressed nasal bridge
ORPHANET:199	RAD21	5885	HP:0000076	Vesicoureteral reflux
ORPHANET:199	RAD21	5885	HP:0000343	Long philtrum
ORPHANET:199	RAD21	5885	HP:0002120	Cerebral cortical atrophy
ORPHANET:199	RAD21	5885	HP:0000574	Thick eyebrow
ORPHANET:199	RAD21	5885	HP:0000482	Microcornea
ORPHANET:199	RAD21	5885	HP:0000413	Atresia of the external auditory canal
ORPHANET:199	RAD21	5885	HP:0001276	Hypertonia
ORPHANET:199	RAD21	5885	HP:0004322	Short stature
ORPHANET:199	RAD21	5885	HP:0000954	Single transverse palmar crease
ORPHANET:199	RAD21	5885	HP:0002360	Sleep disturbance
ORPHANET:199	RAD21	5885	HP:0002119	Ventriculomegaly
ORPHANET:199	RAD21	5885	HP:0002566	Intestinal malrotation
ORPHANET:199	RAD21	5885	HP:0001831	Short toe
ORPHANET:199	RAD21	5885	HP:0000470	Short neck
ORPHANET:199	RAD21	5885	HP:0010880	Increased nuchal translucency
ORPHANET:199	RAD21	5885	HP:0000055	Abnormality of female external genitalia
ORPHANET:199	RAD21	5885	HP:0002983	Micromelia
ORPHANET:199	RAD21	5885	HP:0000684	Delayed eruption of teeth
ORPHANET:199	RAD21	5885	HP:0001250	Seizures
ORPHANET:199	RAD21	5885	HP:0000083	Renal insufficiency
ORPHANET:199	RAD21	5885	HP:0000717	Autism
ORPHANET:199	RAD21	5885	HP:0001557	Prenatal movement abnormality
ORPHANET:199	RAD21	5885	HP:0009623	Proximal placement of thumb
ORPHANET:199	RAD21	5885	HP:0003272	Abnormality of the hip bone
ORPHANET:199	RAD21	5885	HP:0001376	Limitation of joint mobility
ORPHANET:199	RAD21	5885	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:199	RAD21	5885	HP:0001629	Ventricular septal defect
ORPHANET:199	RAD21	5885	HP:0000501	Glaucoma
ORPHANET:199	RAD21	5885	HP:0000722	Obsessive-compulsive behavior
ORPHANET:199	RAD21	5885	HP:0002162	Low posterior hairline
ORPHANET:199	RAD21	5885	HP:0000498	Blepharitis
ORPHANET:199	RAD21	5885	HP:0000294	Low anterior hairline
ORPHANET:199	RAD21	5885	HP:0000786	Primary amenorrhea
ORPHANET:199	RAD21	5885	HP:0001171	Split hand
ORPHANET:199	RAD21	5885	HP:0009804	Reduced number of teeth
ORPHANET:199	RAD21	5885	HP:0003042	Elbow dislocation
ORPHANET:199	RAD21	5885	HP:0002021	Pyloric stenosis
ORPHANET:199	RAD21	5885	HP:0100543	Cognitive impairment
ORPHANET:199	RAD21	5885	HP:0000508	Ptosis
ORPHANET:199	RAD21	5885	HP:0001631	Atria septal defect
ORPHANET:199	RAD21	5885	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:199	RAD21	5885	HP:0000347	Micrognathia
ORPHANET:199	RAD21	5885	HP:0000767	Pectus excavatum
ORPHANET:199	RAD21	5885	HP:0002750	Delayed skeletal maturation
ORPHANET:199	RAD21	5885	HP:0001252	Muscular hypotonia
ORPHANET:199	RAD21	5885	HP:0001622	Premature birth
ORPHANET:199	RAD21	5885	HP:0100627	Displacement of the external urethral meatus
OMIM:602579	MPI	4351	HP:0002240	Hepatomegaly
OMIM:602579	MPI	4351	HP:0001399	Hepatic failure
OMIM:602579	MPI	4351	HP:0001943	Hypoglycemia
OMIM:602579	MPI	4351	HP:0002024	Malabsorption
OMIM:602579	MPI	4351	HP:0001252	Muscular hypotonia
OMIM:602579	MPI	4351	HP:0001892	Abnormal bleeding
OMIM:602579	MPI	4351	HP:0001394	Cirrhosis
OMIM:602579	MPI	4351	HP:0001004	Lymphedema
OMIM:602579	MPI	4351	HP:0000007	Autosomal recessive inheritance
OMIM:602579	MPI	4351	HP:0001977	Abnormal thrombosis
OMIM:602579	MPI	4351	HP:0002013	Vomiting
OMIM:602579	MPI	4351	HP:0001395	Hepatic fibrosis
OMIM:602579	MPI	4351	HP:0003073	Hypoalbuminemia
OMIM:602579	MPI	4351	HP:0011473	Villous atrophy
OMIM:602579	MPI	4351	HP:0002014	Diarrhea
OMIM:602579	MPI	4351	HP:0001508	Failure to thrive
OMIM:147950	PROK2	60675	HP:0001425	Heterogeneous
OMIM:147950	PROK2	60675	HP:0000407	Sensorineural hearing impairment
OMIM:147950	PROK2	60675	HP:0100257	Ectrodactyly
OMIM:147950	PROK2	60675	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	PROK2	60675	HP:0030084	Clinodactyly
OMIM:147950	PROK2	60675	HP:0000054	Micropenis
OMIM:147950	PROK2	60675	HP:0004322	Short stature
OMIM:147950	PROK2	60675	HP:0000458	Anosmia
OMIM:147950	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:147950	PROK2	60675	HP:0001274	Agenesis of corpus callosum
OMIM:147950	PROK2	60675	HP:0000175	Cleft palate
OMIM:147950	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:147950	PROK2	60675	HP:0001249	Intellectual disability
OMIM:147950	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:147950	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	PROK2	60675	HP:0000204	Cleft upper lip
OMIM:147950	PROK2	60675	HP:0000938	Osteopenia
OMIM:147950	PROK2	60675	HP:0000453	Choanal atresia
OMIM:147950	PROK2	60675	HP:0000612	Iris coloboma
OMIM:147950	PROKR2	128674	HP:0001425	Heterogeneous
OMIM:147950	PROKR2	128674	HP:0000407	Sensorineural hearing impairment
OMIM:147950	PROKR2	128674	HP:0100257	Ectrodactyly
OMIM:147950	PROKR2	128674	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	PROKR2	128674	HP:0030084	Clinodactyly
OMIM:147950	PROKR2	128674	HP:0000054	Micropenis
OMIM:147950	PROKR2	128674	HP:0004322	Short stature
OMIM:147950	PROKR2	128674	HP:0000458	Anosmia
OMIM:147950	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:147950	PROKR2	128674	HP:0001274	Agenesis of corpus callosum
OMIM:147950	PROKR2	128674	HP:0000175	Cleft palate
OMIM:147950	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:147950	PROKR2	128674	HP:0001249	Intellectual disability
OMIM:147950	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:147950	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	PROKR2	128674	HP:0000204	Cleft upper lip
OMIM:147950	PROKR2	128674	HP:0000938	Osteopenia
OMIM:147950	PROKR2	128674	HP:0000453	Choanal atresia
OMIM:147950	PROKR2	128674	HP:0000612	Iris coloboma
OMIM:147950	SEMA3A	10371	HP:0001425	Heterogeneous
OMIM:147950	SEMA3A	10371	HP:0000407	Sensorineural hearing impairment
OMIM:147950	SEMA3A	10371	HP:0100257	Ectrodactyly
OMIM:147950	SEMA3A	10371	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	SEMA3A	10371	HP:0030084	Clinodactyly
OMIM:147950	SEMA3A	10371	HP:0000054	Micropenis
OMIM:147950	SEMA3A	10371	HP:0004322	Short stature
OMIM:147950	SEMA3A	10371	HP:0000458	Anosmia
OMIM:147950	SEMA3A	10371	HP:0000006	Autosomal dominant inheritance
OMIM:147950	SEMA3A	10371	HP:0001274	Agenesis of corpus callosum
OMIM:147950	SEMA3A	10371	HP:0000175	Cleft palate
OMIM:147950	SEMA3A	10371	HP:0000028	Cryptorchidism
OMIM:147950	SEMA3A	10371	HP:0001249	Intellectual disability
OMIM:147950	SEMA3A	10371	HP:0000786	Primary amenorrhea
OMIM:147950	SEMA3A	10371	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	SEMA3A	10371	HP:0000204	Cleft upper lip
OMIM:147950	SEMA3A	10371	HP:0000938	Osteopenia
OMIM:147950	SEMA3A	10371	HP:0000453	Choanal atresia
OMIM:147950	SEMA3A	10371	HP:0000612	Iris coloboma
OMIM:147950	IL17RD	54756	HP:0001425	Heterogeneous
OMIM:147950	IL17RD	54756	HP:0000407	Sensorineural hearing impairment
OMIM:147950	IL17RD	54756	HP:0100257	Ectrodactyly
OMIM:147950	IL17RD	54756	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	IL17RD	54756	HP:0030084	Clinodactyly
OMIM:147950	IL17RD	54756	HP:0000054	Micropenis
OMIM:147950	IL17RD	54756	HP:0004322	Short stature
OMIM:147950	IL17RD	54756	HP:0000458	Anosmia
OMIM:147950	IL17RD	54756	HP:0000006	Autosomal dominant inheritance
OMIM:147950	IL17RD	54756	HP:0001274	Agenesis of corpus callosum
OMIM:147950	IL17RD	54756	HP:0000175	Cleft palate
OMIM:147950	IL17RD	54756	HP:0000028	Cryptorchidism
OMIM:147950	IL17RD	54756	HP:0001249	Intellectual disability
OMIM:147950	IL17RD	54756	HP:0000786	Primary amenorrhea
OMIM:147950	IL17RD	54756	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	IL17RD	54756	HP:0000204	Cleft upper lip
OMIM:147950	IL17RD	54756	HP:0000938	Osteopenia
OMIM:147950	IL17RD	54756	HP:0000453	Choanal atresia
OMIM:147950	IL17RD	54756	HP:0000612	Iris coloboma
OMIM:147950	WDR11	55717	HP:0001425	Heterogeneous
OMIM:147950	WDR11	55717	HP:0000407	Sensorineural hearing impairment
OMIM:147950	WDR11	55717	HP:0100257	Ectrodactyly
OMIM:147950	WDR11	55717	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	WDR11	55717	HP:0030084	Clinodactyly
OMIM:147950	WDR11	55717	HP:0000054	Micropenis
OMIM:147950	WDR11	55717	HP:0004322	Short stature
OMIM:147950	WDR11	55717	HP:0000458	Anosmia
OMIM:147950	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:147950	WDR11	55717	HP:0001274	Agenesis of corpus callosum
OMIM:147950	WDR11	55717	HP:0000175	Cleft palate
OMIM:147950	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:147950	WDR11	55717	HP:0001249	Intellectual disability
OMIM:147950	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:147950	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	WDR11	55717	HP:0000204	Cleft upper lip
OMIM:147950	WDR11	55717	HP:0000938	Osteopenia
OMIM:147950	WDR11	55717	HP:0000453	Choanal atresia
OMIM:147950	WDR11	55717	HP:0000612	Iris coloboma
OMIM:147950	KISS1	3814	HP:0001425	Heterogeneous
OMIM:147950	KISS1	3814	HP:0000407	Sensorineural hearing impairment
OMIM:147950	KISS1	3814	HP:0100257	Ectrodactyly
OMIM:147950	KISS1	3814	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	KISS1	3814	HP:0030084	Clinodactyly
OMIM:147950	KISS1	3814	HP:0000054	Micropenis
OMIM:147950	KISS1	3814	HP:0004322	Short stature
OMIM:147950	KISS1	3814	HP:0000458	Anosmia
OMIM:147950	KISS1	3814	HP:0000006	Autosomal dominant inheritance
OMIM:147950	KISS1	3814	HP:0001274	Agenesis of corpus callosum
OMIM:147950	KISS1	3814	HP:0000175	Cleft palate
OMIM:147950	KISS1	3814	HP:0000028	Cryptorchidism
OMIM:147950	KISS1	3814	HP:0001249	Intellectual disability
OMIM:147950	KISS1	3814	HP:0000786	Primary amenorrhea
OMIM:147950	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	KISS1	3814	HP:0000204	Cleft upper lip
OMIM:147950	KISS1	3814	HP:0000938	Osteopenia
OMIM:147950	KISS1	3814	HP:0000453	Choanal atresia
OMIM:147950	KISS1	3814	HP:0000612	Iris coloboma
OMIM:147950	SOX10	6663	HP:0001425	Heterogeneous
OMIM:147950	SOX10	6663	HP:0000407	Sensorineural hearing impairment
OMIM:147950	SOX10	6663	HP:0100257	Ectrodactyly
OMIM:147950	SOX10	6663	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	SOX10	6663	HP:0030084	Clinodactyly
OMIM:147950	SOX10	6663	HP:0000054	Micropenis
OMIM:147950	SOX10	6663	HP:0004322	Short stature
OMIM:147950	SOX10	6663	HP:0000458	Anosmia
OMIM:147950	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:147950	SOX10	6663	HP:0001274	Agenesis of corpus callosum
OMIM:147950	SOX10	6663	HP:0000175	Cleft palate
OMIM:147950	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:147950	SOX10	6663	HP:0001249	Intellectual disability
OMIM:147950	SOX10	6663	HP:0000786	Primary amenorrhea
OMIM:147950	SOX10	6663	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	SOX10	6663	HP:0000204	Cleft upper lip
OMIM:147950	SOX10	6663	HP:0000938	Osteopenia
OMIM:147950	SOX10	6663	HP:0000453	Choanal atresia
OMIM:147950	SOX10	6663	HP:0000612	Iris coloboma
OMIM:147950	FEZF1	389549	HP:0001425	Heterogeneous
OMIM:147950	FEZF1	389549	HP:0000407	Sensorineural hearing impairment
OMIM:147950	FEZF1	389549	HP:0100257	Ectrodactyly
OMIM:147950	FEZF1	389549	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	FEZF1	389549	HP:0030084	Clinodactyly
OMIM:147950	FEZF1	389549	HP:0000054	Micropenis
OMIM:147950	FEZF1	389549	HP:0004322	Short stature
OMIM:147950	FEZF1	389549	HP:0000458	Anosmia
OMIM:147950	FEZF1	389549	HP:0000006	Autosomal dominant inheritance
OMIM:147950	FEZF1	389549	HP:0001274	Agenesis of corpus callosum
OMIM:147950	FEZF1	389549	HP:0000175	Cleft palate
OMIM:147950	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:147950	FEZF1	389549	HP:0001249	Intellectual disability
OMIM:147950	FEZF1	389549	HP:0000786	Primary amenorrhea
OMIM:147950	FEZF1	389549	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	FEZF1	389549	HP:0000204	Cleft upper lip
OMIM:147950	FEZF1	389549	HP:0000938	Osteopenia
OMIM:147950	FEZF1	389549	HP:0000453	Choanal atresia
OMIM:147950	FEZF1	389549	HP:0000612	Iris coloboma
OMIM:147950	GNRH1	2796	HP:0001425	Heterogeneous
OMIM:147950	GNRH1	2796	HP:0000407	Sensorineural hearing impairment
OMIM:147950	GNRH1	2796	HP:0100257	Ectrodactyly
OMIM:147950	GNRH1	2796	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	GNRH1	2796	HP:0030084	Clinodactyly
OMIM:147950	GNRH1	2796	HP:0000054	Micropenis
OMIM:147950	GNRH1	2796	HP:0004322	Short stature
OMIM:147950	GNRH1	2796	HP:0000458	Anosmia
OMIM:147950	GNRH1	2796	HP:0000006	Autosomal dominant inheritance
OMIM:147950	GNRH1	2796	HP:0001274	Agenesis of corpus callosum
OMIM:147950	GNRH1	2796	HP:0000175	Cleft palate
OMIM:147950	GNRH1	2796	HP:0000028	Cryptorchidism
OMIM:147950	GNRH1	2796	HP:0001249	Intellectual disability
OMIM:147950	GNRH1	2796	HP:0000786	Primary amenorrhea
OMIM:147950	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	GNRH1	2796	HP:0000204	Cleft upper lip
OMIM:147950	GNRH1	2796	HP:0000938	Osteopenia
OMIM:147950	GNRH1	2796	HP:0000453	Choanal atresia
OMIM:147950	GNRH1	2796	HP:0000612	Iris coloboma
OMIM:147950	FGF8	2253	HP:0001425	Heterogeneous
OMIM:147950	FGF8	2253	HP:0000407	Sensorineural hearing impairment
OMIM:147950	FGF8	2253	HP:0100257	Ectrodactyly
OMIM:147950	FGF8	2253	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	FGF8	2253	HP:0030084	Clinodactyly
OMIM:147950	FGF8	2253	HP:0000054	Micropenis
OMIM:147950	FGF8	2253	HP:0004322	Short stature
OMIM:147950	FGF8	2253	HP:0000458	Anosmia
OMIM:147950	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:147950	FGF8	2253	HP:0001274	Agenesis of corpus callosum
OMIM:147950	FGF8	2253	HP:0000175	Cleft palate
OMIM:147950	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:147950	FGF8	2253	HP:0001249	Intellectual disability
OMIM:147950	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:147950	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	FGF8	2253	HP:0000204	Cleft upper lip
OMIM:147950	FGF8	2253	HP:0000938	Osteopenia
OMIM:147950	FGF8	2253	HP:0000453	Choanal atresia
OMIM:147950	FGF8	2253	HP:0000612	Iris coloboma
OMIM:147950	GNRHR	2798	HP:0001425	Heterogeneous
OMIM:147950	GNRHR	2798	HP:0000407	Sensorineural hearing impairment
OMIM:147950	GNRHR	2798	HP:0100257	Ectrodactyly
OMIM:147950	GNRHR	2798	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	GNRHR	2798	HP:0030084	Clinodactyly
OMIM:147950	GNRHR	2798	HP:0000054	Micropenis
OMIM:147950	GNRHR	2798	HP:0004322	Short stature
OMIM:147950	GNRHR	2798	HP:0000458	Anosmia
OMIM:147950	GNRHR	2798	HP:0000006	Autosomal dominant inheritance
OMIM:147950	GNRHR	2798	HP:0001274	Agenesis of corpus callosum
OMIM:147950	GNRHR	2798	HP:0000175	Cleft palate
OMIM:147950	GNRHR	2798	HP:0000028	Cryptorchidism
OMIM:147950	GNRHR	2798	HP:0001249	Intellectual disability
OMIM:147950	GNRHR	2798	HP:0000786	Primary amenorrhea
OMIM:147950	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	GNRHR	2798	HP:0000204	Cleft upper lip
OMIM:147950	GNRHR	2798	HP:0000938	Osteopenia
OMIM:147950	GNRHR	2798	HP:0000453	Choanal atresia
OMIM:147950	GNRHR	2798	HP:0000612	Iris coloboma
OMIM:147950	ANOS1	3730	HP:0001425	Heterogeneous
OMIM:147950	ANOS1	3730	HP:0000407	Sensorineural hearing impairment
OMIM:147950	ANOS1	3730	HP:0100257	Ectrodactyly
OMIM:147950	ANOS1	3730	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	ANOS1	3730	HP:0030084	Clinodactyly
OMIM:147950	ANOS1	3730	HP:0000054	Micropenis
OMIM:147950	ANOS1	3730	HP:0004322	Short stature
OMIM:147950	ANOS1	3730	HP:0000458	Anosmia
OMIM:147950	ANOS1	3730	HP:0000006	Autosomal dominant inheritance
OMIM:147950	ANOS1	3730	HP:0001274	Agenesis of corpus callosum
OMIM:147950	ANOS1	3730	HP:0000175	Cleft palate
OMIM:147950	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:147950	ANOS1	3730	HP:0001249	Intellectual disability
OMIM:147950	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:147950	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	ANOS1	3730	HP:0000204	Cleft upper lip
OMIM:147950	ANOS1	3730	HP:0000938	Osteopenia
OMIM:147950	ANOS1	3730	HP:0000453	Choanal atresia
OMIM:147950	ANOS1	3730	HP:0000612	Iris coloboma
OMIM:147950	TAC3	6866	HP:0001425	Heterogeneous
OMIM:147950	TAC3	6866	HP:0000407	Sensorineural hearing impairment
OMIM:147950	TAC3	6866	HP:0100257	Ectrodactyly
OMIM:147950	TAC3	6866	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	TAC3	6866	HP:0030084	Clinodactyly
OMIM:147950	TAC3	6866	HP:0000054	Micropenis
OMIM:147950	TAC3	6866	HP:0004322	Short stature
OMIM:147950	TAC3	6866	HP:0000458	Anosmia
OMIM:147950	TAC3	6866	HP:0000006	Autosomal dominant inheritance
OMIM:147950	TAC3	6866	HP:0001274	Agenesis of corpus callosum
OMIM:147950	TAC3	6866	HP:0000175	Cleft palate
OMIM:147950	TAC3	6866	HP:0000028	Cryptorchidism
OMIM:147950	TAC3	6866	HP:0001249	Intellectual disability
OMIM:147950	TAC3	6866	HP:0000786	Primary amenorrhea
OMIM:147950	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	TAC3	6866	HP:0000204	Cleft upper lip
OMIM:147950	TAC3	6866	HP:0000938	Osteopenia
OMIM:147950	TAC3	6866	HP:0000453	Choanal atresia
OMIM:147950	TAC3	6866	HP:0000612	Iris coloboma
OMIM:147950	HS6ST1	9394	HP:0001425	Heterogeneous
OMIM:147950	HS6ST1	9394	HP:0000407	Sensorineural hearing impairment
OMIM:147950	HS6ST1	9394	HP:0100257	Ectrodactyly
OMIM:147950	HS6ST1	9394	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	HS6ST1	9394	HP:0030084	Clinodactyly
OMIM:147950	HS6ST1	9394	HP:0000054	Micropenis
OMIM:147950	HS6ST1	9394	HP:0004322	Short stature
OMIM:147950	HS6ST1	9394	HP:0000458	Anosmia
OMIM:147950	HS6ST1	9394	HP:0000006	Autosomal dominant inheritance
OMIM:147950	HS6ST1	9394	HP:0001274	Agenesis of corpus callosum
OMIM:147950	HS6ST1	9394	HP:0000175	Cleft palate
OMIM:147950	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:147950	HS6ST1	9394	HP:0001249	Intellectual disability
OMIM:147950	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:147950	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	HS6ST1	9394	HP:0000204	Cleft upper lip
OMIM:147950	HS6ST1	9394	HP:0000938	Osteopenia
OMIM:147950	HS6ST1	9394	HP:0000453	Choanal atresia
OMIM:147950	HS6ST1	9394	HP:0000612	Iris coloboma
OMIM:147950	FGFR1	2260	HP:0001425	Heterogeneous
OMIM:147950	FGFR1	2260	HP:0000407	Sensorineural hearing impairment
OMIM:147950	FGFR1	2260	HP:0100257	Ectrodactyly
OMIM:147950	FGFR1	2260	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	FGFR1	2260	HP:0030084	Clinodactyly
OMIM:147950	FGFR1	2260	HP:0000054	Micropenis
OMIM:147950	FGFR1	2260	HP:0004322	Short stature
OMIM:147950	FGFR1	2260	HP:0000458	Anosmia
OMIM:147950	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:147950	FGFR1	2260	HP:0001274	Agenesis of corpus callosum
OMIM:147950	FGFR1	2260	HP:0000175	Cleft palate
OMIM:147950	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:147950	FGFR1	2260	HP:0001249	Intellectual disability
OMIM:147950	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:147950	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	FGFR1	2260	HP:0000204	Cleft upper lip
OMIM:147950	FGFR1	2260	HP:0000938	Osteopenia
OMIM:147950	FGFR1	2260	HP:0000453	Choanal atresia
OMIM:147950	FGFR1	2260	HP:0000612	Iris coloboma
OMIM:147950	CHD7	55636	HP:0001425	Heterogeneous
OMIM:147950	CHD7	55636	HP:0000407	Sensorineural hearing impairment
OMIM:147950	CHD7	55636	HP:0100257	Ectrodactyly
OMIM:147950	CHD7	55636	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	CHD7	55636	HP:0030084	Clinodactyly
OMIM:147950	CHD7	55636	HP:0000054	Micropenis
OMIM:147950	CHD7	55636	HP:0004322	Short stature
OMIM:147950	CHD7	55636	HP:0000458	Anosmia
OMIM:147950	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:147950	CHD7	55636	HP:0001274	Agenesis of corpus callosum
OMIM:147950	CHD7	55636	HP:0000175	Cleft palate
OMIM:147950	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:147950	CHD7	55636	HP:0001249	Intellectual disability
OMIM:147950	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:147950	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	CHD7	55636	HP:0000204	Cleft upper lip
OMIM:147950	CHD7	55636	HP:0000938	Osteopenia
OMIM:147950	CHD7	55636	HP:0000453	Choanal atresia
OMIM:147950	CHD7	55636	HP:0000612	Iris coloboma
OMIM:147950	HESX1	8820	HP:0001425	Heterogeneous
OMIM:147950	HESX1	8820	HP:0000407	Sensorineural hearing impairment
OMIM:147950	HESX1	8820	HP:0100257	Ectrodactyly
OMIM:147950	HESX1	8820	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	HESX1	8820	HP:0030084	Clinodactyly
OMIM:147950	HESX1	8820	HP:0000054	Micropenis
OMIM:147950	HESX1	8820	HP:0004322	Short stature
OMIM:147950	HESX1	8820	HP:0000458	Anosmia
OMIM:147950	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:147950	HESX1	8820	HP:0001274	Agenesis of corpus callosum
OMIM:147950	HESX1	8820	HP:0000175	Cleft palate
OMIM:147950	HESX1	8820	HP:0000028	Cryptorchidism
OMIM:147950	HESX1	8820	HP:0001249	Intellectual disability
OMIM:147950	HESX1	8820	HP:0000786	Primary amenorrhea
OMIM:147950	HESX1	8820	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	HESX1	8820	HP:0000204	Cleft upper lip
OMIM:147950	HESX1	8820	HP:0000938	Osteopenia
OMIM:147950	HESX1	8820	HP:0000453	Choanal atresia
OMIM:147950	HESX1	8820	HP:0000612	Iris coloboma
OMIM:147950	TACR3	6870	HP:0001425	Heterogeneous
OMIM:147950	TACR3	6870	HP:0000407	Sensorineural hearing impairment
OMIM:147950	TACR3	6870	HP:0100257	Ectrodactyly
OMIM:147950	TACR3	6870	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	TACR3	6870	HP:0030084	Clinodactyly
OMIM:147950	TACR3	6870	HP:0000054	Micropenis
OMIM:147950	TACR3	6870	HP:0004322	Short stature
OMIM:147950	TACR3	6870	HP:0000458	Anosmia
OMIM:147950	TACR3	6870	HP:0000006	Autosomal dominant inheritance
OMIM:147950	TACR3	6870	HP:0001274	Agenesis of corpus callosum
OMIM:147950	TACR3	6870	HP:0000175	Cleft palate
OMIM:147950	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:147950	TACR3	6870	HP:0001249	Intellectual disability
OMIM:147950	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:147950	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	TACR3	6870	HP:0000204	Cleft upper lip
OMIM:147950	TACR3	6870	HP:0000938	Osteopenia
OMIM:147950	TACR3	6870	HP:0000453	Choanal atresia
OMIM:147950	TACR3	6870	HP:0000612	Iris coloboma
OMIM:147950	FGF17	8822	HP:0001425	Heterogeneous
OMIM:147950	FGF17	8822	HP:0000407	Sensorineural hearing impairment
OMIM:147950	FGF17	8822	HP:0100257	Ectrodactyly
OMIM:147950	FGF17	8822	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	FGF17	8822	HP:0030084	Clinodactyly
OMIM:147950	FGF17	8822	HP:0000054	Micropenis
OMIM:147950	FGF17	8822	HP:0004322	Short stature
OMIM:147950	FGF17	8822	HP:0000458	Anosmia
OMIM:147950	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:147950	FGF17	8822	HP:0001274	Agenesis of corpus callosum
OMIM:147950	FGF17	8822	HP:0000175	Cleft palate
OMIM:147950	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:147950	FGF17	8822	HP:0001249	Intellectual disability
OMIM:147950	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:147950	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	FGF17	8822	HP:0000204	Cleft upper lip
OMIM:147950	FGF17	8822	HP:0000938	Osteopenia
OMIM:147950	FGF17	8822	HP:0000453	Choanal atresia
OMIM:147950	FGF17	8822	HP:0000612	Iris coloboma
OMIM:147950	FLRT3	23767	HP:0001425	Heterogeneous
OMIM:147950	FLRT3	23767	HP:0000407	Sensorineural hearing impairment
OMIM:147950	FLRT3	23767	HP:0100257	Ectrodactyly
OMIM:147950	FLRT3	23767	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	FLRT3	23767	HP:0030084	Clinodactyly
OMIM:147950	FLRT3	23767	HP:0000054	Micropenis
OMIM:147950	FLRT3	23767	HP:0004322	Short stature
OMIM:147950	FLRT3	23767	HP:0000458	Anosmia
OMIM:147950	FLRT3	23767	HP:0000006	Autosomal dominant inheritance
OMIM:147950	FLRT3	23767	HP:0001274	Agenesis of corpus callosum
OMIM:147950	FLRT3	23767	HP:0000175	Cleft palate
OMIM:147950	FLRT3	23767	HP:0000028	Cryptorchidism
OMIM:147950	FLRT3	23767	HP:0001249	Intellectual disability
OMIM:147950	FLRT3	23767	HP:0000786	Primary amenorrhea
OMIM:147950	FLRT3	23767	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	FLRT3	23767	HP:0000204	Cleft upper lip
OMIM:147950	FLRT3	23767	HP:0000938	Osteopenia
OMIM:147950	FLRT3	23767	HP:0000453	Choanal atresia
OMIM:147950	FLRT3	23767	HP:0000612	Iris coloboma
OMIM:147950	DUSP6	1848	HP:0001425	Heterogeneous
OMIM:147950	DUSP6	1848	HP:0000407	Sensorineural hearing impairment
OMIM:147950	DUSP6	1848	HP:0100257	Ectrodactyly
OMIM:147950	DUSP6	1848	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	DUSP6	1848	HP:0030084	Clinodactyly
OMIM:147950	DUSP6	1848	HP:0000054	Micropenis
OMIM:147950	DUSP6	1848	HP:0004322	Short stature
OMIM:147950	DUSP6	1848	HP:0000458	Anosmia
OMIM:147950	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:147950	DUSP6	1848	HP:0001274	Agenesis of corpus callosum
OMIM:147950	DUSP6	1848	HP:0000175	Cleft palate
OMIM:147950	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:147950	DUSP6	1848	HP:0001249	Intellectual disability
OMIM:147950	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:147950	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	DUSP6	1848	HP:0000204	Cleft upper lip
OMIM:147950	DUSP6	1848	HP:0000938	Osteopenia
OMIM:147950	DUSP6	1848	HP:0000453	Choanal atresia
OMIM:147950	DUSP6	1848	HP:0000612	Iris coloboma
OMIM:147950	SPRY4	81848	HP:0001425	Heterogeneous
OMIM:147950	SPRY4	81848	HP:0000407	Sensorineural hearing impairment
OMIM:147950	SPRY4	81848	HP:0100257	Ectrodactyly
OMIM:147950	SPRY4	81848	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	SPRY4	81848	HP:0030084	Clinodactyly
OMIM:147950	SPRY4	81848	HP:0000054	Micropenis
OMIM:147950	SPRY4	81848	HP:0004322	Short stature
OMIM:147950	SPRY4	81848	HP:0000458	Anosmia
OMIM:147950	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:147950	SPRY4	81848	HP:0001274	Agenesis of corpus callosum
OMIM:147950	SPRY4	81848	HP:0000175	Cleft palate
OMIM:147950	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:147950	SPRY4	81848	HP:0001249	Intellectual disability
OMIM:147950	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:147950	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	SPRY4	81848	HP:0000204	Cleft upper lip
OMIM:147950	SPRY4	81848	HP:0000938	Osteopenia
OMIM:147950	SPRY4	81848	HP:0000453	Choanal atresia
OMIM:147950	SPRY4	81848	HP:0000612	Iris coloboma
OMIM:147950	KISS1R	84634	HP:0001425	Heterogeneous
OMIM:147950	KISS1R	84634	HP:0000407	Sensorineural hearing impairment
OMIM:147950	KISS1R	84634	HP:0100257	Ectrodactyly
OMIM:147950	KISS1R	84634	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	KISS1R	84634	HP:0030084	Clinodactyly
OMIM:147950	KISS1R	84634	HP:0000054	Micropenis
OMIM:147950	KISS1R	84634	HP:0004322	Short stature
OMIM:147950	KISS1R	84634	HP:0000458	Anosmia
OMIM:147950	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:147950	KISS1R	84634	HP:0001274	Agenesis of corpus callosum
OMIM:147950	KISS1R	84634	HP:0000175	Cleft palate
OMIM:147950	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:147950	KISS1R	84634	HP:0001249	Intellectual disability
OMIM:147950	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:147950	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	KISS1R	84634	HP:0000204	Cleft upper lip
OMIM:147950	KISS1R	84634	HP:0000938	Osteopenia
OMIM:147950	KISS1R	84634	HP:0000453	Choanal atresia
OMIM:147950	KISS1R	84634	HP:0000612	Iris coloboma
OMIM:147950	NSMF	26012	HP:0001425	Heterogeneous
OMIM:147950	NSMF	26012	HP:0000407	Sensorineural hearing impairment
OMIM:147950	NSMF	26012	HP:0100257	Ectrodactyly
OMIM:147950	NSMF	26012	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:147950	NSMF	26012	HP:0030084	Clinodactyly
OMIM:147950	NSMF	26012	HP:0000054	Micropenis
OMIM:147950	NSMF	26012	HP:0004322	Short stature
OMIM:147950	NSMF	26012	HP:0000458	Anosmia
OMIM:147950	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:147950	NSMF	26012	HP:0001274	Agenesis of corpus callosum
OMIM:147950	NSMF	26012	HP:0000175	Cleft palate
OMIM:147950	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:147950	NSMF	26012	HP:0001249	Intellectual disability
OMIM:147950	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:147950	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:147950	NSMF	26012	HP:0000204	Cleft upper lip
OMIM:147950	NSMF	26012	HP:0000938	Osteopenia
OMIM:147950	NSMF	26012	HP:0000453	Choanal atresia
OMIM:147950	NSMF	26012	HP:0000612	Iris coloboma
ORPHANET:306	SCN2A	6326	HP:0002017	Nausea and vomiting
ORPHANET:306	SCN2A	6326	HP:0002076	Migraine
ORPHANET:306	SCN2A	6326	HP:0000478	Abnormality of the eye
ORPHANET:306	SCN2A	6326	HP:0001276	Hypertonia
ORPHANET:306	SCN2A	6326	HP:0002354	Memory impairment
ORPHANET:306	SCN2A	6326	HP:0004372	Reduced consciousness/confusion
ORPHANET:306	SCN2A	6326	HP:0000738	Hallucinations
ORPHANET:306	SCN2A	6326	HP:0002167	Neurological speech impairment
ORPHANET:306	SCN2A	6326	HP:0001252	Muscular hypotonia
ORPHANET:306	SCN2A	6326	HP:0002072	Chorea
ORPHANET:306	SCN2A	6326	HP:0001250	Seizures
ORPHANET:306	SCN2A	6326	HP:0003401	Paresthesia
ORPHANET:306	KCNQ2	3785	HP:0002017	Nausea and vomiting
ORPHANET:306	KCNQ2	3785	HP:0002076	Migraine
ORPHANET:306	KCNQ2	3785	HP:0000478	Abnormality of the eye
ORPHANET:306	KCNQ2	3785	HP:0001276	Hypertonia
ORPHANET:306	KCNQ2	3785	HP:0002354	Memory impairment
ORPHANET:306	KCNQ2	3785	HP:0004372	Reduced consciousness/confusion
ORPHANET:306	KCNQ2	3785	HP:0000738	Hallucinations
ORPHANET:306	KCNQ2	3785	HP:0002167	Neurological speech impairment
ORPHANET:306	KCNQ2	3785	HP:0001252	Muscular hypotonia
ORPHANET:306	KCNQ2	3785	HP:0002072	Chorea
ORPHANET:306	KCNQ2	3785	HP:0001250	Seizures
ORPHANET:306	KCNQ2	3785	HP:0003401	Paresthesia
ORPHANET:306	KCNQ3	3786	HP:0002017	Nausea and vomiting
ORPHANET:306	KCNQ3	3786	HP:0002076	Migraine
ORPHANET:306	KCNQ3	3786	HP:0000478	Abnormality of the eye
ORPHANET:306	KCNQ3	3786	HP:0001276	Hypertonia
ORPHANET:306	KCNQ3	3786	HP:0002354	Memory impairment
ORPHANET:306	KCNQ3	3786	HP:0004372	Reduced consciousness/confusion
ORPHANET:306	KCNQ3	3786	HP:0000738	Hallucinations
ORPHANET:306	KCNQ3	3786	HP:0002167	Neurological speech impairment
ORPHANET:306	KCNQ3	3786	HP:0001252	Muscular hypotonia
ORPHANET:306	KCNQ3	3786	HP:0002072	Chorea
ORPHANET:306	KCNQ3	3786	HP:0001250	Seizures
ORPHANET:306	KCNQ3	3786	HP:0003401	Paresthesia
ORPHANET:306	PRRT2	112476	HP:0002017	Nausea and vomiting
ORPHANET:306	PRRT2	112476	HP:0002076	Migraine
ORPHANET:306	PRRT2	112476	HP:0000478	Abnormality of the eye
ORPHANET:306	PRRT2	112476	HP:0001276	Hypertonia
ORPHANET:306	PRRT2	112476	HP:0002354	Memory impairment
ORPHANET:306	PRRT2	112476	HP:0004372	Reduced consciousness/confusion
ORPHANET:306	PRRT2	112476	HP:0000738	Hallucinations
ORPHANET:306	PRRT2	112476	HP:0002167	Neurological speech impairment
ORPHANET:306	PRRT2	112476	HP:0001252	Muscular hypotonia
ORPHANET:306	PRRT2	112476	HP:0002072	Chorea
ORPHANET:306	PRRT2	112476	HP:0001250	Seizures
ORPHANET:306	PRRT2	112476	HP:0003401	Paresthesia
ORPHANET:300605	SPG11	80208	HP:0002200	Pseudobulbar signs
ORPHANET:300605	SPG11	80208	HP:0003202	Skeletal muscle atrophy
ORPHANET:300605	SPG11	80208	HP:0007256	Abnormal pyramidal signs
ORPHANET:300605	SPG11	80208	HP:0000079	Abnormality of the urinary system
ORPHANET:300605	SPG11	80208	HP:0001347	Hyperreflexia
ORPHANET:300605	SPG11	80208	HP:0001288	Gait disturbance
ORPHANET:300605	SPG11	80208	HP:0002167	Neurological speech impairment
ORPHANET:300605	SPG11	80208	HP:0001276	Hypertonia
ORPHANET:300605	SPG11	80208	HP:0003457	EMG abnormality
ORPHANET:300605	SIGMAR1	10280	HP:0002200	Pseudobulbar signs
ORPHANET:300605	SIGMAR1	10280	HP:0003202	Skeletal muscle atrophy
ORPHANET:300605	SIGMAR1	10280	HP:0007256	Abnormal pyramidal signs
ORPHANET:300605	SIGMAR1	10280	HP:0000079	Abnormality of the urinary system
ORPHANET:300605	SIGMAR1	10280	HP:0001347	Hyperreflexia
ORPHANET:300605	SIGMAR1	10280	HP:0001288	Gait disturbance
ORPHANET:300605	SIGMAR1	10280	HP:0002167	Neurological speech impairment
ORPHANET:300605	SIGMAR1	10280	HP:0001276	Hypertonia
ORPHANET:300605	SIGMAR1	10280	HP:0003457	EMG abnormality
ORPHANET:300605	FUS	2521	HP:0002200	Pseudobulbar signs
ORPHANET:300605	FUS	2521	HP:0003202	Skeletal muscle atrophy
ORPHANET:300605	FUS	2521	HP:0007256	Abnormal pyramidal signs
ORPHANET:300605	FUS	2521	HP:0000079	Abnormality of the urinary system
ORPHANET:300605	FUS	2521	HP:0001347	Hyperreflexia
ORPHANET:300605	FUS	2521	HP:0001288	Gait disturbance
ORPHANET:300605	FUS	2521	HP:0002167	Neurological speech impairment
ORPHANET:300605	FUS	2521	HP:0001276	Hypertonia
ORPHANET:300605	FUS	2521	HP:0003457	EMG abnormality
ORPHANET:300605	ALS2	57679	HP:0002200	Pseudobulbar signs
ORPHANET:300605	ALS2	57679	HP:0003202	Skeletal muscle atrophy
ORPHANET:300605	ALS2	57679	HP:0007256	Abnormal pyramidal signs
ORPHANET:300605	ALS2	57679	HP:0000079	Abnormality of the urinary system
ORPHANET:300605	ALS2	57679	HP:0001347	Hyperreflexia
ORPHANET:300605	ALS2	57679	HP:0001288	Gait disturbance
ORPHANET:300605	ALS2	57679	HP:0002167	Neurological speech impairment
ORPHANET:300605	ALS2	57679	HP:0001276	Hypertonia
ORPHANET:300605	ALS2	57679	HP:0003457	EMG abnormality
OMIM:606688	PRNP	5621	HP:0002171	Gliosis
OMIM:606688	PRNP	5621	HP:0000726	Dementia
OMIM:606688	PRNP	5621	HP:0000006	Autosomal dominant inheritance
OMIM:606688	PRNP	5621	HP:0001298	Encephalopathy
OMIM:614050	GATA4	2626	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:614050	GATA6	2627	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:614050	KCNE2	9992	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:614050	KCNQ1	3784	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:614050	KCNE1	3753	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:614050	NKX2-5	1482	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:614050	ABCC9	10060	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:614050	GJA5	2702	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:614050	NPPA	4878	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:614050	KCNJ2	3759	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:614050	NKX2-6	137814	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:614050	GATA5	140628	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:614050	SCN2B	6327	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:614050	SCN3B	55800	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:614050	SCN4B	6330	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:614050	SCN5A	6331	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:614050	PITX2	5308	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:614050	KCNA5	3741	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
OMIM:614050	NUP155	9631	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	NUP155	9631	HP:0000006	Autosomal dominant inheritance
OMIM:249900	PSAP	5660	HP:0002066	Gait ataxia
OMIM:249900	PSAP	5660	HP:0001324	Muscle weakness
OMIM:249900	PSAP	5660	HP:0001347	Hyperreflexia
OMIM:249900	PSAP	5660	HP:0002518	Abnormality of the periventricular white matter
OMIM:249900	PSAP	5660	HP:0001260	Dysarthria
OMIM:249900	PSAP	5660	HP:0001271	Polyneuropathy
OMIM:249900	PSAP	5660	HP:0002371	Loss of speech
OMIM:249900	PSAP	5660	HP:0001250	Seizures
OMIM:249900	PSAP	5660	HP:0002015	Dysphagia
OMIM:249900	PSAP	5660	HP:0000007	Autosomal recessive inheritance
OMIM:249900	PSAP	5660	HP:0001265	Hyporeflexia
OMIM:249900	PSAP	5660	HP:0000020	Urinary incontinence
OMIM:249900	PSAP	5660	HP:0001285	Spastic tetraparesis
OMIM:249900	PSAP	5660	HP:0003487	Babinski sign
OMIM:249900	PSAP	5660	HP:0007305	CNS demyelination
OMIM:249900	PSAP	5660	HP:0000762	Decreased nerve conduction velocity
OMIM:249900	PSAP	5660	HP:0001268	Mental deterioration
OMIM:249900	PSAP	5660	HP:0003828	Variable expressivity
OMIM:249900	PSAP	5660	HP:0001263	Global developmental delay
OMIM:249900	PSAP	5660	HP:0002376	Developmental regression
OMIM:249900	PSAP	5660	HP:0011096	Peripheral demyelination
OMIM:249900	PSAP	5660	HP:0001252	Muscular hypotonia
OMIM:264070	PCBD1	5092	HP:0001252	Muscular hypotonia
OMIM:264070	PCBD1	5092	HP:0000007	Autosomal recessive inheritance
OMIM:264070	PCBD1	5092	HP:0001276	Hypertonia
OMIM:264070	PCBD1	5092	HP:0001270	Motor delay
OMIM:264070	PCBD1	5092	HP:0001337	Tremor
OMIM:118830	LMF1	64788	HP:0002027	Abdominal pain
OMIM:118830	LMF1	64788	HP:0001744	Splenomegaly
OMIM:118830	LMF1	64788	HP:0010980	Hyperlipoproteinemia
OMIM:118830	LMF1	64788	HP:0000006	Autosomal dominant inheritance
OMIM:118830	GPIHBP1	338328	HP:0002027	Abdominal pain
OMIM:118830	GPIHBP1	338328	HP:0001744	Splenomegaly
OMIM:118830	GPIHBP1	338328	HP:0010980	Hyperlipoproteinemia
OMIM:118830	GPIHBP1	338328	HP:0000006	Autosomal dominant inheritance
OMIM:610713	HOXD13	3239	HP:0001156	Brachydactyly syndrome
OMIM:610713	HOXD13	3239	HP:0001831	Short toe
OMIM:610713	HOXD13	3239	HP:0001770	Toe syndactyly
OMIM:610713	HOXD13	3239	HP:0001822	Hallux valgus
OMIM:610713	HOXD13	3239	HP:0009773	Symphalangism affecting the phalanges of the hand
OMIM:610713	HOXD13	3239	HP:0001163	Abnormality of the metacarpal bones
OMIM:141800	HBA1	3039	HP:0000006	Autosomal dominant inheritance
OMIM:141800	HBA1	3039	HP:0000961	Cyanosis
OMIM:141800	HBA1	3039	HP:0000952	Jaundice
OMIM:141800	HBA1	3039	HP:0001901	Polycythemia
OMIM:137550	NRAS	4893	HP:0000629	Periorbital fullness
OMIM:137550	NRAS	4893	HP:0003196	Short nose
OMIM:137550	NRAS	4893	HP:0000998	Hypertrichosis
OMIM:137550	NRAS	4893	HP:0000006	Autosomal dominant inheritance
OMIM:137550	NRAS	4893	HP:0000455	Broad nasal tip
OMIM:137550	NRAS	4893	HP:0012056	Cutaneous melanoma
OMIM:137550	NRAS	4893	HP:0001250	Seizures
OMIM:137550	NRAS	4893	HP:0010759	Prominence of the premaxilla
OMIM:137550	NRAS	4893	HP:0001053	Hypopigmented skin patches
OMIM:137550	NRAS	4893	HP:0000194	Open mouth
OMIM:137550	NRAS	4893	HP:0000337	Broad forehead
OMIM:137550	NRAS	4893	HP:0000989	Pruritus
OMIM:137550	NRAS	4893	HP:0000238	Hydrocephalus
OMIM:137550	NRAS	4893	HP:0000311	Round face
OMIM:137550	NRAS	4893	HP:0011220	Prominent forehead
OMIM:137550	NRAS	4893	HP:0000232	Everted lower lip vermilion
OMIM:137550	NRAS	4893	HP:0000343	Long philtrum
OMIM:137550	NRAS	4893	HP:0000293	Full cheeks
OMIM:137550	NRAS	4893	HP:0100242	Sarcoma
OMIM:137550	MC1R	4157	HP:0000629	Periorbital fullness
OMIM:137550	MC1R	4157	HP:0003196	Short nose
OMIM:137550	MC1R	4157	HP:0000998	Hypertrichosis
OMIM:137550	MC1R	4157	HP:0000006	Autosomal dominant inheritance
OMIM:137550	MC1R	4157	HP:0000455	Broad nasal tip
OMIM:137550	MC1R	4157	HP:0012056	Cutaneous melanoma
OMIM:137550	MC1R	4157	HP:0001250	Seizures
OMIM:137550	MC1R	4157	HP:0010759	Prominence of the premaxilla
OMIM:137550	MC1R	4157	HP:0001053	Hypopigmented skin patches
OMIM:137550	MC1R	4157	HP:0000194	Open mouth
OMIM:137550	MC1R	4157	HP:0000337	Broad forehead
OMIM:137550	MC1R	4157	HP:0000989	Pruritus
OMIM:137550	MC1R	4157	HP:0000238	Hydrocephalus
OMIM:137550	MC1R	4157	HP:0000311	Round face
OMIM:137550	MC1R	4157	HP:0011220	Prominent forehead
OMIM:137550	MC1R	4157	HP:0000232	Everted lower lip vermilion
OMIM:137550	MC1R	4157	HP:0000343	Long philtrum
OMIM:137550	MC1R	4157	HP:0000293	Full cheeks
OMIM:137550	MC1R	4157	HP:0100242	Sarcoma
OMIM:217030	CFI	3426	HP:0006946	Recurrent meningitis
OMIM:217030	CFI	3426	HP:0000007	Autosomal recessive inheritance
OMIM:217030	CFI	3426	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:616204	GRID2	2895	HP:0002311	Incoordination
OMIM:616204	GRID2	2895	HP:0000565	Esotropia
OMIM:616204	GRID2	2895	HP:0002075	Dysdiadochokinesis
OMIM:616204	GRID2	2895	HP:0001310	Dysmetria
OMIM:616204	GRID2	2895	HP:0002465	Poor speech
OMIM:616204	GRID2	2895	HP:0002066	Gait ataxia
OMIM:616204	GRID2	2895	HP:0003487	Babinski sign
OMIM:616204	GRID2	2895	HP:0000657	Oculomotor apraxia
OMIM:616204	GRID2	2895	HP:0001252	Muscular hypotonia
OMIM:616204	GRID2	2895	HP:0001260	Dysarthria
OMIM:616204	GRID2	2895	HP:0001347	Hyperreflexia
OMIM:616204	GRID2	2895	HP:0100543	Cognitive impairment
OMIM:616204	GRID2	2895	HP:0000639	Nystagmus
OMIM:616204	GRID2	2895	HP:0002078	Truncal ataxia
OMIM:616204	GRID2	2895	HP:0001371	Flexion contracture
OMIM:616204	GRID2	2895	HP:0001272	Cerebellar atrophy
OMIM:616204	GRID2	2895	HP:0001263	Global developmental delay
OMIM:616204	GRID2	2895	HP:0000543	Optic disc pallor
OMIM:154500	TCOF1	6949	HP:0000028	Cryptorchidism
OMIM:154500	TCOF1	6949	HP:0000377	Abnormality of the pinna
OMIM:154500	TCOF1	6949	HP:0000154	Wide mouth
OMIM:154500	TCOF1	6949	HP:0000486	Strabismus
OMIM:154500	TCOF1	6949	HP:0000508	Ptosis
OMIM:154500	TCOF1	6949	HP:0000572	Visual loss
OMIM:154500	TCOF1	6949	HP:0000405	Conductive hearing impairment
OMIM:154500	TCOF1	6949	HP:0001249	Intellectual disability
OMIM:154500	TCOF1	6949	HP:0000494	Downslanted palpebral fissures
OMIM:154500	TCOF1	6949	HP:0000453	Choanal atresia
OMIM:154500	TCOF1	6949	HP:0000006	Autosomal dominant inheritance
OMIM:154500	TCOF1	6949	HP:0000372	Abnormality of the auditory canal
OMIM:154500	TCOF1	6949	HP:0000272	Malar flattening
OMIM:154500	TCOF1	6949	HP:0000160	Narrow mouth
OMIM:154500	TCOF1	6949	HP:0000347	Micrognathia
OMIM:154500	TCOF1	6949	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:154500	TCOF1	6949	HP:0000384	Preauricular skin tag
OMIM:154500	POLR1D	51082	HP:0000028	Cryptorchidism
OMIM:154500	POLR1D	51082	HP:0000377	Abnormality of the pinna
OMIM:154500	POLR1D	51082	HP:0000154	Wide mouth
OMIM:154500	POLR1D	51082	HP:0000486	Strabismus
OMIM:154500	POLR1D	51082	HP:0000508	Ptosis
OMIM:154500	POLR1D	51082	HP:0000572	Visual loss
OMIM:154500	POLR1D	51082	HP:0000405	Conductive hearing impairment
OMIM:154500	POLR1D	51082	HP:0001249	Intellectual disability
OMIM:154500	POLR1D	51082	HP:0000494	Downslanted palpebral fissures
OMIM:154500	POLR1D	51082	HP:0000453	Choanal atresia
OMIM:154500	POLR1D	51082	HP:0000006	Autosomal dominant inheritance
OMIM:154500	POLR1D	51082	HP:0000372	Abnormality of the auditory canal
OMIM:154500	POLR1D	51082	HP:0000272	Malar flattening
OMIM:154500	POLR1D	51082	HP:0000160	Narrow mouth
OMIM:154500	POLR1D	51082	HP:0000347	Micrognathia
OMIM:154500	POLR1D	51082	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:154500	POLR1D	51082	HP:0000384	Preauricular skin tag
OMIM:154500	POLR1C	9533	HP:0000028	Cryptorchidism
OMIM:154500	POLR1C	9533	HP:0000377	Abnormality of the pinna
OMIM:154500	POLR1C	9533	HP:0000154	Wide mouth
OMIM:154500	POLR1C	9533	HP:0000486	Strabismus
OMIM:154500	POLR1C	9533	HP:0000508	Ptosis
OMIM:154500	POLR1C	9533	HP:0000572	Visual loss
OMIM:154500	POLR1C	9533	HP:0000405	Conductive hearing impairment
OMIM:154500	POLR1C	9533	HP:0001249	Intellectual disability
OMIM:154500	POLR1C	9533	HP:0000494	Downslanted palpebral fissures
OMIM:154500	POLR1C	9533	HP:0000453	Choanal atresia
OMIM:154500	POLR1C	9533	HP:0000006	Autosomal dominant inheritance
OMIM:154500	POLR1C	9533	HP:0000372	Abnormality of the auditory canal
OMIM:154500	POLR1C	9533	HP:0000272	Malar flattening
OMIM:154500	POLR1C	9533	HP:0000160	Narrow mouth
OMIM:154500	POLR1C	9533	HP:0000347	Micrognathia
OMIM:154500	POLR1C	9533	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:154500	POLR1C	9533	HP:0000384	Preauricular skin tag
OMIM:614261	STAMBP	10617	HP:0000445	Wide nose
OMIM:614261	STAMBP	10617	HP:0000327	Hypoplasia of the maxilla
OMIM:614261	STAMBP	10617	HP:0001792	Small nail
OMIM:614261	STAMBP	10617	HP:0001156	Brachydactyly syndrome
OMIM:614261	STAMBP	10617	HP:0001667	Right ventricular hypertrophy
OMIM:614261	STAMBP	10617	HP:0030084	Clinodactyly
OMIM:614261	STAMBP	10617	HP:0003577	Congenital onset
OMIM:614261	STAMBP	10617	HP:0000369	Low-set ears
OMIM:614261	STAMBP	10617	HP:0002059	Cerebral atrophy
OMIM:614261	STAMBP	10617	HP:0012448	Delayed myelination
OMIM:614261	STAMBP	10617	HP:0000508	Ptosis
OMIM:614261	STAMBP	10617	HP:0001252	Muscular hypotonia
OMIM:614261	STAMBP	10617	HP:0001336	Myoclonus
OMIM:614261	STAMBP	10617	HP:0000076	Vesicoureteral reflux
OMIM:614261	STAMBP	10617	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614261	STAMBP	10617	HP:0009882	Short distal phalanx of finger
OMIM:614261	STAMBP	10617	HP:0001250	Seizures
OMIM:614261	STAMBP	10617	HP:0000648	Optic atrophy
OMIM:614261	STAMBP	10617	HP:0001285	Spastic tetraparesis
OMIM:614261	STAMBP	10617	HP:0011344	Severe global developmental delay
OMIM:614261	STAMBP	10617	HP:0001508	Failure to thrive
OMIM:614261	STAMBP	10617	HP:0000175	Cleft palate
OMIM:614261	STAMBP	10617	HP:0004322	Short stature
OMIM:614261	STAMBP	10617	HP:0010721	Abnormal hair whorl
OMIM:614261	STAMBP	10617	HP:0003196	Short nose
OMIM:614261	STAMBP	10617	HP:0000007	Autosomal recessive inheritance
OMIM:614261	STAMBP	10617	HP:0000365	Hearing impairment
OMIM:614261	STAMBP	10617	HP:0000316	Hypertelorism
OMIM:614261	STAMBP	10617	HP:0001655	Patent foramen ovale
OMIM:614261	STAMBP	10617	HP:0000340	Sloping forehead
OMIM:614261	STAMBP	10617	HP:0001629	Ventricular septal defect
OMIM:614261	STAMBP	10617	HP:0001518	Small for gestational age
OMIM:614261	STAMBP	10617	HP:0000253	Progressive microcephaly
OMIM:616415	NTHL1	4913	HP:0008069	Neoplasm of the skin
OMIM:616415	NTHL1	4913	HP:0003002	Breast carcinoma
OMIM:613837	AIPL1	23746	HP:0000006	Autosomal dominant inheritance
OMIM:613837	AIPL1	23746	HP:0000505	Visual impairment
OMIM:613837	AIPL1	23746	HP:0000639	Nystagmus
OMIM:613837	NMNAT1	64802	HP:0000006	Autosomal dominant inheritance
OMIM:613837	NMNAT1	64802	HP:0000505	Visual impairment
OMIM:613837	NMNAT1	64802	HP:0000639	Nystagmus
OMIM:613837	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:613837	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613837	SPATA7	55812	HP:0000639	Nystagmus
OMIM:613837	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:613837	RDH12	145226	HP:0000505	Visual impairment
OMIM:613837	RDH12	145226	HP:0000639	Nystagmus
OMIM:613837	RPGRIP1	57096	HP:0000006	Autosomal dominant inheritance
OMIM:613837	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:613837	RPGRIP1	57096	HP:0000639	Nystagmus
OMIM:613837	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:613837	RPE65	6121	HP:0000505	Visual impairment
OMIM:613837	RPE65	6121	HP:0000639	Nystagmus
OMIM:613837	LCA5	167691	HP:0000006	Autosomal dominant inheritance
OMIM:613837	LCA5	167691	HP:0000505	Visual impairment
OMIM:613837	LCA5	167691	HP:0000639	Nystagmus
OMIM:613837	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:613837	LRAT	9227	HP:0000505	Visual impairment
OMIM:613837	LRAT	9227	HP:0000639	Nystagmus
OMIM:613837	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:613837	IFT140	9742	HP:0000505	Visual impairment
OMIM:613837	IFT140	9742	HP:0000639	Nystagmus
OMIM:613837	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:613837	TULP1	7287	HP:0000505	Visual impairment
OMIM:613837	TULP1	7287	HP:0000639	Nystagmus
OMIM:613837	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:613837	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:613837	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:613837	CEP290	80184	HP:0000006	Autosomal dominant inheritance
OMIM:613837	CEP290	80184	HP:0000505	Visual impairment
OMIM:613837	CEP290	80184	HP:0000639	Nystagmus
OMIM:613837	IQCB1	9657	HP:0000006	Autosomal dominant inheritance
OMIM:613837	IQCB1	9657	HP:0000505	Visual impairment
OMIM:613837	IQCB1	9657	HP:0000639	Nystagmus
OMIM:613837	KCNJ13	3769	HP:0000006	Autosomal dominant inheritance
OMIM:613837	KCNJ13	3769	HP:0000505	Visual impairment
OMIM:613837	KCNJ13	3769	HP:0000639	Nystagmus
OMIM:613837	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:613837	CRB1	23418	HP:0000505	Visual impairment
OMIM:613837	CRB1	23418	HP:0000639	Nystagmus
OMIM:613837	GDF6	392255	HP:0000006	Autosomal dominant inheritance
OMIM:613837	GDF6	392255	HP:0000505	Visual impairment
OMIM:613837	GDF6	392255	HP:0000639	Nystagmus
OMIM:613837	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:613837	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:613837	IMPDH1	3614	HP:0000639	Nystagmus
OMIM:613837	RD3	343035	HP:0000006	Autosomal dominant inheritance
OMIM:613837	RD3	343035	HP:0000505	Visual impairment
OMIM:613837	RD3	343035	HP:0000639	Nystagmus
OMIM:613837	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:613837	CRX	1406	HP:0000505	Visual impairment
OMIM:613837	CRX	1406	HP:0000639	Nystagmus
OMIM:615279	BRAF	673	HP:0001263	Global developmental delay
OMIM:615279	BRAF	673	HP:0002650	Scoliosis
OMIM:615279	BRAF	673	HP:0004349	Reduced bone mineral density
OMIM:615279	BRAF	673	HP:0001250	Seizures
OMIM:615279	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:615279	BRAF	673	HP:0000975	Hyperhidrosis
OMIM:615279	BRAF	673	HP:0000154	Wide mouth
OMIM:615279	BRAF	673	HP:0001508	Failure to thrive
OMIM:615279	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615279	BRAF	673	HP:0040180	Hyperkeratosis pilaris
OMIM:615279	BRAF	673	HP:0000767	Pectus excavatum
OMIM:615279	BRAF	673	HP:0000639	Nystagmus
OMIM:615279	BRAF	673	HP:0002212	Curly hair
OMIM:615279	BRAF	673	HP:0001252	Muscular hypotonia
OMIM:615279	BRAF	673	HP:0008050	Abnormality of the palpebral fissures
OMIM:615279	MAP2K1	5604	HP:0001263	Global developmental delay
OMIM:615279	MAP2K1	5604	HP:0002650	Scoliosis
OMIM:615279	MAP2K1	5604	HP:0004349	Reduced bone mineral density
OMIM:615279	MAP2K1	5604	HP:0001250	Seizures
OMIM:615279	MAP2K1	5604	HP:0001642	Pulmonic stenosis
OMIM:615279	MAP2K1	5604	HP:0000975	Hyperhidrosis
OMIM:615279	MAP2K1	5604	HP:0000154	Wide mouth
OMIM:615279	MAP2K1	5604	HP:0001508	Failure to thrive
OMIM:615279	MAP2K1	5604	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615279	MAP2K1	5604	HP:0040180	Hyperkeratosis pilaris
OMIM:615279	MAP2K1	5604	HP:0000767	Pectus excavatum
OMIM:615279	MAP2K1	5604	HP:0000639	Nystagmus
OMIM:615279	MAP2K1	5604	HP:0002212	Curly hair
OMIM:615279	MAP2K1	5604	HP:0001252	Muscular hypotonia
OMIM:615279	MAP2K1	5604	HP:0008050	Abnormality of the palpebral fissures
OMIM:615279	KRAS	3845	HP:0001263	Global developmental delay
OMIM:615279	KRAS	3845	HP:0002650	Scoliosis
OMIM:615279	KRAS	3845	HP:0004349	Reduced bone mineral density
OMIM:615279	KRAS	3845	HP:0001250	Seizures
OMIM:615279	KRAS	3845	HP:0001642	Pulmonic stenosis
OMIM:615279	KRAS	3845	HP:0000975	Hyperhidrosis
OMIM:615279	KRAS	3845	HP:0000154	Wide mouth
OMIM:615279	KRAS	3845	HP:0001508	Failure to thrive
OMIM:615279	KRAS	3845	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615279	KRAS	3845	HP:0040180	Hyperkeratosis pilaris
OMIM:615279	KRAS	3845	HP:0000767	Pectus excavatum
OMIM:615279	KRAS	3845	HP:0000639	Nystagmus
OMIM:615279	KRAS	3845	HP:0002212	Curly hair
OMIM:615279	KRAS	3845	HP:0001252	Muscular hypotonia
OMIM:615279	KRAS	3845	HP:0008050	Abnormality of the palpebral fissures
OMIM:615279	MAP2K2	5605	HP:0001263	Global developmental delay
OMIM:615279	MAP2K2	5605	HP:0002650	Scoliosis
OMIM:615279	MAP2K2	5605	HP:0004349	Reduced bone mineral density
OMIM:615279	MAP2K2	5605	HP:0001250	Seizures
OMIM:615279	MAP2K2	5605	HP:0001642	Pulmonic stenosis
OMIM:615279	MAP2K2	5605	HP:0000975	Hyperhidrosis
OMIM:615279	MAP2K2	5605	HP:0000154	Wide mouth
OMIM:615279	MAP2K2	5605	HP:0001508	Failure to thrive
OMIM:615279	MAP2K2	5605	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615279	MAP2K2	5605	HP:0040180	Hyperkeratosis pilaris
OMIM:615279	MAP2K2	5605	HP:0000767	Pectus excavatum
OMIM:615279	MAP2K2	5605	HP:0000639	Nystagmus
OMIM:615279	MAP2K2	5605	HP:0002212	Curly hair
OMIM:615279	MAP2K2	5605	HP:0001252	Muscular hypotonia
OMIM:615279	MAP2K2	5605	HP:0008050	Abnormality of the palpebral fissures
OMIM:277410	MMADHC	27249	HP:0100543	Cognitive impairment
OMIM:277410	MMADHC	27249	HP:0001263	Global developmental delay
OMIM:277410	MMADHC	27249	HP:0001249	Intellectual disability
OMIM:277410	MMADHC	27249	HP:0002120	Cerebral cortical atrophy
OMIM:277410	MMADHC	27249	HP:0003593	Infantile onset
OMIM:277410	MMADHC	27249	HP:0001250	Seizures
OMIM:277410	MMADHC	27249	HP:0002912	Methylmalonic acidemia
OMIM:277410	MMADHC	27249	HP:0001889	Megaloblastic anemia
OMIM:277410	MMADHC	27249	HP:0001288	Gait disturbance
OMIM:277410	MMADHC	27249	HP:0000708	Behavioral abnormality
OMIM:277410	MMADHC	27249	HP:0002039	Anorexia
OMIM:277410	MMADHC	27249	HP:0000007	Autosomal recessive inheritance
OMIM:277410	MMADHC	27249	HP:0000639	Nystagmus
OMIM:277410	MMADHC	27249	HP:0004372	Reduced consciousness/confusion
OMIM:277410	MMADHC	27249	HP:0001332	Dystonia
OMIM:277410	MMADHC	27249	HP:0001252	Muscular hypotonia
OMIM:277410	MMADHC	27249	HP:0000980	Pallor
OMIM:277410	MMADHC	27249	HP:0001254	Lethargy
OMIM:277410	MMADHC	27249	HP:0012120	Methylmalonic aciduria
OMIM:253800	B4GAT1	11041	HP:0001685	Myocardial fibrosis
OMIM:253800	B4GAT1	11041	HP:0003741	Congenital muscular dystrophy
OMIM:253800	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:253800	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:253800	B4GAT1	11041	HP:0000568	Microphthalmia
OMIM:253800	B4GAT1	11041	HP:0000545	Myopia
OMIM:253800	B4GAT1	11041	HP:0002650	Scoliosis
OMIM:253800	B4GAT1	11041	HP:0000648	Optic atrophy
OMIM:253800	B4GAT1	11041	HP:0001284	Areflexia
OMIM:253800	B4GAT1	11041	HP:0002084	Encephalocele
OMIM:253800	B4GAT1	11041	HP:0000486	Strabismus
OMIM:253800	B4GAT1	11041	HP:0003593	Infantile onset
OMIM:253800	B4GAT1	11041	HP:0001669	Transposition of the great arteries
OMIM:253800	B4GAT1	11041	HP:0001302	Pachygyria
OMIM:253800	B4GAT1	11041	HP:0001250	Seizures
OMIM:253800	B4GAT1	11041	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	B4GAT1	11041	HP:0002126	Polymicrogyria
OMIM:253800	B4GAT1	11041	HP:0003202	Skeletal muscle atrophy
OMIM:253800	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
OMIM:253800	B4GAT1	11041	HP:0001642	Pulmonic stenosis
OMIM:253800	B4GAT1	11041	HP:0007973	Retinal dysplasia
OMIM:253800	B4GAT1	11041	HP:0002350	Cerebellar cyst
OMIM:253800	B4GAT1	11041	HP:0003306	Spinal rigidity
OMIM:253800	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:253800	B4GAT1	11041	HP:0001360	Holoprosencephaly
OMIM:253800	B4GAT1	11041	HP:0002093	Respiratory insufficiency
OMIM:253800	B4GAT1	11041	HP:0001371	Flexion contracture
OMIM:253800	B4GAT1	11041	HP:0001631	Atria septal defect
OMIM:253800	B4GAT1	11041	HP:0008981	Calf muscle hypertrophy
OMIM:253800	B4GAT1	11041	HP:0001249	Intellectual disability
OMIM:253800	B4GAT1	11041	HP:0000518	Cataract
OMIM:253800	B4GAT1	11041	HP:0002267	Exaggerated startle response
OMIM:253800	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	B4GAT1	11041	HP:0000540	Hypermetropia
OMIM:253800	B4GAT1	11041	HP:0001252	Muscular hypotonia
OMIM:253800	B4GAT1	11041	HP:0001274	Agenesis of corpus callosum
OMIM:253800	B4GAT1	11041	HP:0001324	Muscle weakness
OMIM:253800	B4GAT1	11041	HP:0000541	Retinal detachment
OMIM:253800	B4GAT1	11041	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	POMT2	29954	HP:0001685	Myocardial fibrosis
OMIM:253800	POMT2	29954	HP:0003741	Congenital muscular dystrophy
OMIM:253800	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:253800	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:253800	POMT2	29954	HP:0000568	Microphthalmia
OMIM:253800	POMT2	29954	HP:0000545	Myopia
OMIM:253800	POMT2	29954	HP:0002650	Scoliosis
OMIM:253800	POMT2	29954	HP:0000648	Optic atrophy
OMIM:253800	POMT2	29954	HP:0001284	Areflexia
OMIM:253800	POMT2	29954	HP:0002084	Encephalocele
OMIM:253800	POMT2	29954	HP:0000486	Strabismus
OMIM:253800	POMT2	29954	HP:0003593	Infantile onset
OMIM:253800	POMT2	29954	HP:0001669	Transposition of the great arteries
OMIM:253800	POMT2	29954	HP:0001302	Pachygyria
OMIM:253800	POMT2	29954	HP:0001250	Seizures
OMIM:253800	POMT2	29954	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	POMT2	29954	HP:0002126	Polymicrogyria
OMIM:253800	POMT2	29954	HP:0003202	Skeletal muscle atrophy
OMIM:253800	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:253800	POMT2	29954	HP:0001642	Pulmonic stenosis
OMIM:253800	POMT2	29954	HP:0007973	Retinal dysplasia
OMIM:253800	POMT2	29954	HP:0002350	Cerebellar cyst
OMIM:253800	POMT2	29954	HP:0003306	Spinal rigidity
OMIM:253800	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:253800	POMT2	29954	HP:0001360	Holoprosencephaly
OMIM:253800	POMT2	29954	HP:0002093	Respiratory insufficiency
OMIM:253800	POMT2	29954	HP:0001371	Flexion contracture
OMIM:253800	POMT2	29954	HP:0001631	Atria septal defect
OMIM:253800	POMT2	29954	HP:0008981	Calf muscle hypertrophy
OMIM:253800	POMT2	29954	HP:0001249	Intellectual disability
OMIM:253800	POMT2	29954	HP:0000518	Cataract
OMIM:253800	POMT2	29954	HP:0002267	Exaggerated startle response
OMIM:253800	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	POMT2	29954	HP:0000540	Hypermetropia
OMIM:253800	POMT2	29954	HP:0001252	Muscular hypotonia
OMIM:253800	POMT2	29954	HP:0001274	Agenesis of corpus callosum
OMIM:253800	POMT2	29954	HP:0001324	Muscle weakness
OMIM:253800	POMT2	29954	HP:0000541	Retinal detachment
OMIM:253800	POMT2	29954	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	COL4A1	1282	HP:0001685	Myocardial fibrosis
OMIM:253800	COL4A1	1282	HP:0003741	Congenital muscular dystrophy
OMIM:253800	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:253800	COL4A1	1282	HP:0000007	Autosomal recessive inheritance
OMIM:253800	COL4A1	1282	HP:0000568	Microphthalmia
OMIM:253800	COL4A1	1282	HP:0000545	Myopia
OMIM:253800	COL4A1	1282	HP:0002650	Scoliosis
OMIM:253800	COL4A1	1282	HP:0000648	Optic atrophy
OMIM:253800	COL4A1	1282	HP:0001284	Areflexia
OMIM:253800	COL4A1	1282	HP:0002084	Encephalocele
OMIM:253800	COL4A1	1282	HP:0000486	Strabismus
OMIM:253800	COL4A1	1282	HP:0003593	Infantile onset
OMIM:253800	COL4A1	1282	HP:0001669	Transposition of the great arteries
OMIM:253800	COL4A1	1282	HP:0001302	Pachygyria
OMIM:253800	COL4A1	1282	HP:0001250	Seizures
OMIM:253800	COL4A1	1282	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	COL4A1	1282	HP:0002126	Polymicrogyria
OMIM:253800	COL4A1	1282	HP:0003202	Skeletal muscle atrophy
OMIM:253800	COL4A1	1282	HP:0001321	Cerebellar hypoplasia
OMIM:253800	COL4A1	1282	HP:0001642	Pulmonic stenosis
OMIM:253800	COL4A1	1282	HP:0007973	Retinal dysplasia
OMIM:253800	COL4A1	1282	HP:0002350	Cerebellar cyst
OMIM:253800	COL4A1	1282	HP:0003306	Spinal rigidity
OMIM:253800	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:253800	COL4A1	1282	HP:0001360	Holoprosencephaly
OMIM:253800	COL4A1	1282	HP:0002093	Respiratory insufficiency
OMIM:253800	COL4A1	1282	HP:0001371	Flexion contracture
OMIM:253800	COL4A1	1282	HP:0001631	Atria septal defect
OMIM:253800	COL4A1	1282	HP:0008981	Calf muscle hypertrophy
OMIM:253800	COL4A1	1282	HP:0001249	Intellectual disability
OMIM:253800	COL4A1	1282	HP:0000518	Cataract
OMIM:253800	COL4A1	1282	HP:0002267	Exaggerated startle response
OMIM:253800	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	COL4A1	1282	HP:0000540	Hypermetropia
OMIM:253800	COL4A1	1282	HP:0001252	Muscular hypotonia
OMIM:253800	COL4A1	1282	HP:0001274	Agenesis of corpus callosum
OMIM:253800	COL4A1	1282	HP:0001324	Muscle weakness
OMIM:253800	COL4A1	1282	HP:0000541	Retinal detachment
OMIM:253800	COL4A1	1282	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	POMK	84197	HP:0001685	Myocardial fibrosis
OMIM:253800	POMK	84197	HP:0003741	Congenital muscular dystrophy
OMIM:253800	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:253800	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:253800	POMK	84197	HP:0000568	Microphthalmia
OMIM:253800	POMK	84197	HP:0000545	Myopia
OMIM:253800	POMK	84197	HP:0002650	Scoliosis
OMIM:253800	POMK	84197	HP:0000648	Optic atrophy
OMIM:253800	POMK	84197	HP:0001284	Areflexia
OMIM:253800	POMK	84197	HP:0002084	Encephalocele
OMIM:253800	POMK	84197	HP:0000486	Strabismus
OMIM:253800	POMK	84197	HP:0003593	Infantile onset
OMIM:253800	POMK	84197	HP:0001669	Transposition of the great arteries
OMIM:253800	POMK	84197	HP:0001302	Pachygyria
OMIM:253800	POMK	84197	HP:0001250	Seizures
OMIM:253800	POMK	84197	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	POMK	84197	HP:0002126	Polymicrogyria
OMIM:253800	POMK	84197	HP:0003202	Skeletal muscle atrophy
OMIM:253800	POMK	84197	HP:0001321	Cerebellar hypoplasia
OMIM:253800	POMK	84197	HP:0001642	Pulmonic stenosis
OMIM:253800	POMK	84197	HP:0007973	Retinal dysplasia
OMIM:253800	POMK	84197	HP:0002350	Cerebellar cyst
OMIM:253800	POMK	84197	HP:0003306	Spinal rigidity
OMIM:253800	POMK	84197	HP:0000238	Hydrocephalus
OMIM:253800	POMK	84197	HP:0001360	Holoprosencephaly
OMIM:253800	POMK	84197	HP:0002093	Respiratory insufficiency
OMIM:253800	POMK	84197	HP:0001371	Flexion contracture
OMIM:253800	POMK	84197	HP:0001631	Atria septal defect
OMIM:253800	POMK	84197	HP:0008981	Calf muscle hypertrophy
OMIM:253800	POMK	84197	HP:0001249	Intellectual disability
OMIM:253800	POMK	84197	HP:0000518	Cataract
OMIM:253800	POMK	84197	HP:0002267	Exaggerated startle response
OMIM:253800	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	POMK	84197	HP:0000540	Hypermetropia
OMIM:253800	POMK	84197	HP:0001252	Muscular hypotonia
OMIM:253800	POMK	84197	HP:0001274	Agenesis of corpus callosum
OMIM:253800	POMK	84197	HP:0001324	Muscle weakness
OMIM:253800	POMK	84197	HP:0000541	Retinal detachment
OMIM:253800	POMK	84197	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	GMPPB	29925	HP:0001685	Myocardial fibrosis
OMIM:253800	GMPPB	29925	HP:0003741	Congenital muscular dystrophy
OMIM:253800	GMPPB	29925	HP:0007260	Type II lissencephaly
OMIM:253800	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:253800	GMPPB	29925	HP:0000568	Microphthalmia
OMIM:253800	GMPPB	29925	HP:0000545	Myopia
OMIM:253800	GMPPB	29925	HP:0002650	Scoliosis
OMIM:253800	GMPPB	29925	HP:0000648	Optic atrophy
OMIM:253800	GMPPB	29925	HP:0001284	Areflexia
OMIM:253800	GMPPB	29925	HP:0002084	Encephalocele
OMIM:253800	GMPPB	29925	HP:0000486	Strabismus
OMIM:253800	GMPPB	29925	HP:0003593	Infantile onset
OMIM:253800	GMPPB	29925	HP:0001669	Transposition of the great arteries
OMIM:253800	GMPPB	29925	HP:0001302	Pachygyria
OMIM:253800	GMPPB	29925	HP:0001250	Seizures
OMIM:253800	GMPPB	29925	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	GMPPB	29925	HP:0002126	Polymicrogyria
OMIM:253800	GMPPB	29925	HP:0003202	Skeletal muscle atrophy
OMIM:253800	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:253800	GMPPB	29925	HP:0001642	Pulmonic stenosis
OMIM:253800	GMPPB	29925	HP:0007973	Retinal dysplasia
OMIM:253800	GMPPB	29925	HP:0002350	Cerebellar cyst
OMIM:253800	GMPPB	29925	HP:0003306	Spinal rigidity
OMIM:253800	GMPPB	29925	HP:0000238	Hydrocephalus
OMIM:253800	GMPPB	29925	HP:0001360	Holoprosencephaly
OMIM:253800	GMPPB	29925	HP:0002093	Respiratory insufficiency
OMIM:253800	GMPPB	29925	HP:0001371	Flexion contracture
OMIM:253800	GMPPB	29925	HP:0001631	Atria septal defect
OMIM:253800	GMPPB	29925	HP:0008981	Calf muscle hypertrophy
OMIM:253800	GMPPB	29925	HP:0001249	Intellectual disability
OMIM:253800	GMPPB	29925	HP:0000518	Cataract
OMIM:253800	GMPPB	29925	HP:0002267	Exaggerated startle response
OMIM:253800	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	GMPPB	29925	HP:0000540	Hypermetropia
OMIM:253800	GMPPB	29925	HP:0001252	Muscular hypotonia
OMIM:253800	GMPPB	29925	HP:0001274	Agenesis of corpus callosum
OMIM:253800	GMPPB	29925	HP:0001324	Muscle weakness
OMIM:253800	GMPPB	29925	HP:0000541	Retinal detachment
OMIM:253800	GMPPB	29925	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	DAG1	1605	HP:0001685	Myocardial fibrosis
OMIM:253800	DAG1	1605	HP:0003741	Congenital muscular dystrophy
OMIM:253800	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:253800	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:253800	DAG1	1605	HP:0000568	Microphthalmia
OMIM:253800	DAG1	1605	HP:0000545	Myopia
OMIM:253800	DAG1	1605	HP:0002650	Scoliosis
OMIM:253800	DAG1	1605	HP:0000648	Optic atrophy
OMIM:253800	DAG1	1605	HP:0001284	Areflexia
OMIM:253800	DAG1	1605	HP:0002084	Encephalocele
OMIM:253800	DAG1	1605	HP:0000486	Strabismus
OMIM:253800	DAG1	1605	HP:0003593	Infantile onset
OMIM:253800	DAG1	1605	HP:0001669	Transposition of the great arteries
OMIM:253800	DAG1	1605	HP:0001302	Pachygyria
OMIM:253800	DAG1	1605	HP:0001250	Seizures
OMIM:253800	DAG1	1605	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	DAG1	1605	HP:0002126	Polymicrogyria
OMIM:253800	DAG1	1605	HP:0003202	Skeletal muscle atrophy
OMIM:253800	DAG1	1605	HP:0001321	Cerebellar hypoplasia
OMIM:253800	DAG1	1605	HP:0001642	Pulmonic stenosis
OMIM:253800	DAG1	1605	HP:0007973	Retinal dysplasia
OMIM:253800	DAG1	1605	HP:0002350	Cerebellar cyst
OMIM:253800	DAG1	1605	HP:0003306	Spinal rigidity
OMIM:253800	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:253800	DAG1	1605	HP:0001360	Holoprosencephaly
OMIM:253800	DAG1	1605	HP:0002093	Respiratory insufficiency
OMIM:253800	DAG1	1605	HP:0001371	Flexion contracture
OMIM:253800	DAG1	1605	HP:0001631	Atria septal defect
OMIM:253800	DAG1	1605	HP:0008981	Calf muscle hypertrophy
OMIM:253800	DAG1	1605	HP:0001249	Intellectual disability
OMIM:253800	DAG1	1605	HP:0000518	Cataract
OMIM:253800	DAG1	1605	HP:0002267	Exaggerated startle response
OMIM:253800	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	DAG1	1605	HP:0000540	Hypermetropia
OMIM:253800	DAG1	1605	HP:0001252	Muscular hypotonia
OMIM:253800	DAG1	1605	HP:0001274	Agenesis of corpus callosum
OMIM:253800	DAG1	1605	HP:0001324	Muscle weakness
OMIM:253800	DAG1	1605	HP:0000541	Retinal detachment
OMIM:253800	DAG1	1605	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	POMGNT1	55624	HP:0001685	Myocardial fibrosis
OMIM:253800	POMGNT1	55624	HP:0003741	Congenital muscular dystrophy
OMIM:253800	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:253800	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:253800	POMGNT1	55624	HP:0000568	Microphthalmia
OMIM:253800	POMGNT1	55624	HP:0000545	Myopia
OMIM:253800	POMGNT1	55624	HP:0002650	Scoliosis
OMIM:253800	POMGNT1	55624	HP:0000648	Optic atrophy
OMIM:253800	POMGNT1	55624	HP:0001284	Areflexia
OMIM:253800	POMGNT1	55624	HP:0002084	Encephalocele
OMIM:253800	POMGNT1	55624	HP:0000486	Strabismus
OMIM:253800	POMGNT1	55624	HP:0003593	Infantile onset
OMIM:253800	POMGNT1	55624	HP:0001669	Transposition of the great arteries
OMIM:253800	POMGNT1	55624	HP:0001302	Pachygyria
OMIM:253800	POMGNT1	55624	HP:0001250	Seizures
OMIM:253800	POMGNT1	55624	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	POMGNT1	55624	HP:0002126	Polymicrogyria
OMIM:253800	POMGNT1	55624	HP:0003202	Skeletal muscle atrophy
OMIM:253800	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:253800	POMGNT1	55624	HP:0001642	Pulmonic stenosis
OMIM:253800	POMGNT1	55624	HP:0007973	Retinal dysplasia
OMIM:253800	POMGNT1	55624	HP:0002350	Cerebellar cyst
OMIM:253800	POMGNT1	55624	HP:0003306	Spinal rigidity
OMIM:253800	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:253800	POMGNT1	55624	HP:0001360	Holoprosencephaly
OMIM:253800	POMGNT1	55624	HP:0002093	Respiratory insufficiency
OMIM:253800	POMGNT1	55624	HP:0001371	Flexion contracture
OMIM:253800	POMGNT1	55624	HP:0001631	Atria septal defect
OMIM:253800	POMGNT1	55624	HP:0008981	Calf muscle hypertrophy
OMIM:253800	POMGNT1	55624	HP:0001249	Intellectual disability
OMIM:253800	POMGNT1	55624	HP:0000518	Cataract
OMIM:253800	POMGNT1	55624	HP:0002267	Exaggerated startle response
OMIM:253800	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	POMGNT1	55624	HP:0000540	Hypermetropia
OMIM:253800	POMGNT1	55624	HP:0001252	Muscular hypotonia
OMIM:253800	POMGNT1	55624	HP:0001274	Agenesis of corpus callosum
OMIM:253800	POMGNT1	55624	HP:0001324	Muscle weakness
OMIM:253800	POMGNT1	55624	HP:0000541	Retinal detachment
OMIM:253800	POMGNT1	55624	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	FKTN	2218	HP:0001685	Myocardial fibrosis
OMIM:253800	FKTN	2218	HP:0003741	Congenital muscular dystrophy
OMIM:253800	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:253800	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:253800	FKTN	2218	HP:0000568	Microphthalmia
OMIM:253800	FKTN	2218	HP:0000545	Myopia
OMIM:253800	FKTN	2218	HP:0002650	Scoliosis
OMIM:253800	FKTN	2218	HP:0000648	Optic atrophy
OMIM:253800	FKTN	2218	HP:0001284	Areflexia
OMIM:253800	FKTN	2218	HP:0002084	Encephalocele
OMIM:253800	FKTN	2218	HP:0000486	Strabismus
OMIM:253800	FKTN	2218	HP:0003593	Infantile onset
OMIM:253800	FKTN	2218	HP:0001669	Transposition of the great arteries
OMIM:253800	FKTN	2218	HP:0001302	Pachygyria
OMIM:253800	FKTN	2218	HP:0001250	Seizures
OMIM:253800	FKTN	2218	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	FKTN	2218	HP:0002126	Polymicrogyria
OMIM:253800	FKTN	2218	HP:0003202	Skeletal muscle atrophy
OMIM:253800	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:253800	FKTN	2218	HP:0001642	Pulmonic stenosis
OMIM:253800	FKTN	2218	HP:0007973	Retinal dysplasia
OMIM:253800	FKTN	2218	HP:0002350	Cerebellar cyst
OMIM:253800	FKTN	2218	HP:0003306	Spinal rigidity
OMIM:253800	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:253800	FKTN	2218	HP:0001360	Holoprosencephaly
OMIM:253800	FKTN	2218	HP:0002093	Respiratory insufficiency
OMIM:253800	FKTN	2218	HP:0001371	Flexion contracture
OMIM:253800	FKTN	2218	HP:0001631	Atria septal defect
OMIM:253800	FKTN	2218	HP:0008981	Calf muscle hypertrophy
OMIM:253800	FKTN	2218	HP:0001249	Intellectual disability
OMIM:253800	FKTN	2218	HP:0000518	Cataract
OMIM:253800	FKTN	2218	HP:0002267	Exaggerated startle response
OMIM:253800	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	FKTN	2218	HP:0000540	Hypermetropia
OMIM:253800	FKTN	2218	HP:0001252	Muscular hypotonia
OMIM:253800	FKTN	2218	HP:0001274	Agenesis of corpus callosum
OMIM:253800	FKTN	2218	HP:0001324	Muscle weakness
OMIM:253800	FKTN	2218	HP:0000541	Retinal detachment
OMIM:253800	FKTN	2218	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	FKRP	79147	HP:0001685	Myocardial fibrosis
OMIM:253800	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:253800	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:253800	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:253800	FKRP	79147	HP:0000568	Microphthalmia
OMIM:253800	FKRP	79147	HP:0000545	Myopia
OMIM:253800	FKRP	79147	HP:0002650	Scoliosis
OMIM:253800	FKRP	79147	HP:0000648	Optic atrophy
OMIM:253800	FKRP	79147	HP:0001284	Areflexia
OMIM:253800	FKRP	79147	HP:0002084	Encephalocele
OMIM:253800	FKRP	79147	HP:0000486	Strabismus
OMIM:253800	FKRP	79147	HP:0003593	Infantile onset
OMIM:253800	FKRP	79147	HP:0001669	Transposition of the great arteries
OMIM:253800	FKRP	79147	HP:0001302	Pachygyria
OMIM:253800	FKRP	79147	HP:0001250	Seizures
OMIM:253800	FKRP	79147	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	FKRP	79147	HP:0002126	Polymicrogyria
OMIM:253800	FKRP	79147	HP:0003202	Skeletal muscle atrophy
OMIM:253800	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:253800	FKRP	79147	HP:0001642	Pulmonic stenosis
OMIM:253800	FKRP	79147	HP:0007973	Retinal dysplasia
OMIM:253800	FKRP	79147	HP:0002350	Cerebellar cyst
OMIM:253800	FKRP	79147	HP:0003306	Spinal rigidity
OMIM:253800	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:253800	FKRP	79147	HP:0001360	Holoprosencephaly
OMIM:253800	FKRP	79147	HP:0002093	Respiratory insufficiency
OMIM:253800	FKRP	79147	HP:0001371	Flexion contracture
OMIM:253800	FKRP	79147	HP:0001631	Atria septal defect
OMIM:253800	FKRP	79147	HP:0008981	Calf muscle hypertrophy
OMIM:253800	FKRP	79147	HP:0001249	Intellectual disability
OMIM:253800	FKRP	79147	HP:0000518	Cataract
OMIM:253800	FKRP	79147	HP:0002267	Exaggerated startle response
OMIM:253800	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	FKRP	79147	HP:0000540	Hypermetropia
OMIM:253800	FKRP	79147	HP:0001252	Muscular hypotonia
OMIM:253800	FKRP	79147	HP:0001274	Agenesis of corpus callosum
OMIM:253800	FKRP	79147	HP:0001324	Muscle weakness
OMIM:253800	FKRP	79147	HP:0000541	Retinal detachment
OMIM:253800	FKRP	79147	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	ISPD	729920	HP:0001685	Myocardial fibrosis
OMIM:253800	ISPD	729920	HP:0003741	Congenital muscular dystrophy
OMIM:253800	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:253800	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:253800	ISPD	729920	HP:0000568	Microphthalmia
OMIM:253800	ISPD	729920	HP:0000545	Myopia
OMIM:253800	ISPD	729920	HP:0002650	Scoliosis
OMIM:253800	ISPD	729920	HP:0000648	Optic atrophy
OMIM:253800	ISPD	729920	HP:0001284	Areflexia
OMIM:253800	ISPD	729920	HP:0002084	Encephalocele
OMIM:253800	ISPD	729920	HP:0000486	Strabismus
OMIM:253800	ISPD	729920	HP:0003593	Infantile onset
OMIM:253800	ISPD	729920	HP:0001669	Transposition of the great arteries
OMIM:253800	ISPD	729920	HP:0001302	Pachygyria
OMIM:253800	ISPD	729920	HP:0001250	Seizures
OMIM:253800	ISPD	729920	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	ISPD	729920	HP:0002126	Polymicrogyria
OMIM:253800	ISPD	729920	HP:0003202	Skeletal muscle atrophy
OMIM:253800	ISPD	729920	HP:0001321	Cerebellar hypoplasia
OMIM:253800	ISPD	729920	HP:0001642	Pulmonic stenosis
OMIM:253800	ISPD	729920	HP:0007973	Retinal dysplasia
OMIM:253800	ISPD	729920	HP:0002350	Cerebellar cyst
OMIM:253800	ISPD	729920	HP:0003306	Spinal rigidity
OMIM:253800	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:253800	ISPD	729920	HP:0001360	Holoprosencephaly
OMIM:253800	ISPD	729920	HP:0002093	Respiratory insufficiency
OMIM:253800	ISPD	729920	HP:0001371	Flexion contracture
OMIM:253800	ISPD	729920	HP:0001631	Atria septal defect
OMIM:253800	ISPD	729920	HP:0008981	Calf muscle hypertrophy
OMIM:253800	ISPD	729920	HP:0001249	Intellectual disability
OMIM:253800	ISPD	729920	HP:0000518	Cataract
OMIM:253800	ISPD	729920	HP:0002267	Exaggerated startle response
OMIM:253800	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	ISPD	729920	HP:0000540	Hypermetropia
OMIM:253800	ISPD	729920	HP:0001252	Muscular hypotonia
OMIM:253800	ISPD	729920	HP:0001274	Agenesis of corpus callosum
OMIM:253800	ISPD	729920	HP:0001324	Muscle weakness
OMIM:253800	ISPD	729920	HP:0000541	Retinal detachment
OMIM:253800	ISPD	729920	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	B3GALNT2	148789	HP:0001685	Myocardial fibrosis
OMIM:253800	B3GALNT2	148789	HP:0003741	Congenital muscular dystrophy
OMIM:253800	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:253800	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:253800	B3GALNT2	148789	HP:0000568	Microphthalmia
OMIM:253800	B3GALNT2	148789	HP:0000545	Myopia
OMIM:253800	B3GALNT2	148789	HP:0002650	Scoliosis
OMIM:253800	B3GALNT2	148789	HP:0000648	Optic atrophy
OMIM:253800	B3GALNT2	148789	HP:0001284	Areflexia
OMIM:253800	B3GALNT2	148789	HP:0002084	Encephalocele
OMIM:253800	B3GALNT2	148789	HP:0000486	Strabismus
OMIM:253800	B3GALNT2	148789	HP:0003593	Infantile onset
OMIM:253800	B3GALNT2	148789	HP:0001669	Transposition of the great arteries
OMIM:253800	B3GALNT2	148789	HP:0001302	Pachygyria
OMIM:253800	B3GALNT2	148789	HP:0001250	Seizures
OMIM:253800	B3GALNT2	148789	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	B3GALNT2	148789	HP:0002126	Polymicrogyria
OMIM:253800	B3GALNT2	148789	HP:0003202	Skeletal muscle atrophy
OMIM:253800	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:253800	B3GALNT2	148789	HP:0001642	Pulmonic stenosis
OMIM:253800	B3GALNT2	148789	HP:0007973	Retinal dysplasia
OMIM:253800	B3GALNT2	148789	HP:0002350	Cerebellar cyst
OMIM:253800	B3GALNT2	148789	HP:0003306	Spinal rigidity
OMIM:253800	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:253800	B3GALNT2	148789	HP:0001360	Holoprosencephaly
OMIM:253800	B3GALNT2	148789	HP:0002093	Respiratory insufficiency
OMIM:253800	B3GALNT2	148789	HP:0001371	Flexion contracture
OMIM:253800	B3GALNT2	148789	HP:0001631	Atria septal defect
OMIM:253800	B3GALNT2	148789	HP:0008981	Calf muscle hypertrophy
OMIM:253800	B3GALNT2	148789	HP:0001249	Intellectual disability
OMIM:253800	B3GALNT2	148789	HP:0000518	Cataract
OMIM:253800	B3GALNT2	148789	HP:0002267	Exaggerated startle response
OMIM:253800	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	B3GALNT2	148789	HP:0000540	Hypermetropia
OMIM:253800	B3GALNT2	148789	HP:0001252	Muscular hypotonia
OMIM:253800	B3GALNT2	148789	HP:0001274	Agenesis of corpus callosum
OMIM:253800	B3GALNT2	148789	HP:0001324	Muscle weakness
OMIM:253800	B3GALNT2	148789	HP:0000541	Retinal detachment
OMIM:253800	B3GALNT2	148789	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	POMT1	10585	HP:0001685	Myocardial fibrosis
OMIM:253800	POMT1	10585	HP:0003741	Congenital muscular dystrophy
OMIM:253800	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:253800	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:253800	POMT1	10585	HP:0000568	Microphthalmia
OMIM:253800	POMT1	10585	HP:0000545	Myopia
OMIM:253800	POMT1	10585	HP:0002650	Scoliosis
OMIM:253800	POMT1	10585	HP:0000648	Optic atrophy
OMIM:253800	POMT1	10585	HP:0001284	Areflexia
OMIM:253800	POMT1	10585	HP:0002084	Encephalocele
OMIM:253800	POMT1	10585	HP:0000486	Strabismus
OMIM:253800	POMT1	10585	HP:0003593	Infantile onset
OMIM:253800	POMT1	10585	HP:0001669	Transposition of the great arteries
OMIM:253800	POMT1	10585	HP:0001302	Pachygyria
OMIM:253800	POMT1	10585	HP:0001250	Seizures
OMIM:253800	POMT1	10585	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	POMT1	10585	HP:0002126	Polymicrogyria
OMIM:253800	POMT1	10585	HP:0003202	Skeletal muscle atrophy
OMIM:253800	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:253800	POMT1	10585	HP:0001642	Pulmonic stenosis
OMIM:253800	POMT1	10585	HP:0007973	Retinal dysplasia
OMIM:253800	POMT1	10585	HP:0002350	Cerebellar cyst
OMIM:253800	POMT1	10585	HP:0003306	Spinal rigidity
OMIM:253800	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:253800	POMT1	10585	HP:0001360	Holoprosencephaly
OMIM:253800	POMT1	10585	HP:0002093	Respiratory insufficiency
OMIM:253800	POMT1	10585	HP:0001371	Flexion contracture
OMIM:253800	POMT1	10585	HP:0001631	Atria septal defect
OMIM:253800	POMT1	10585	HP:0008981	Calf muscle hypertrophy
OMIM:253800	POMT1	10585	HP:0001249	Intellectual disability
OMIM:253800	POMT1	10585	HP:0000518	Cataract
OMIM:253800	POMT1	10585	HP:0002267	Exaggerated startle response
OMIM:253800	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	POMT1	10585	HP:0000540	Hypermetropia
OMIM:253800	POMT1	10585	HP:0001252	Muscular hypotonia
OMIM:253800	POMT1	10585	HP:0001274	Agenesis of corpus callosum
OMIM:253800	POMT1	10585	HP:0001324	Muscle weakness
OMIM:253800	POMT1	10585	HP:0000541	Retinal detachment
OMIM:253800	POMT1	10585	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	TMEM5	10329	HP:0001685	Myocardial fibrosis
OMIM:253800	TMEM5	10329	HP:0003741	Congenital muscular dystrophy
OMIM:253800	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:253800	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:253800	TMEM5	10329	HP:0000568	Microphthalmia
OMIM:253800	TMEM5	10329	HP:0000545	Myopia
OMIM:253800	TMEM5	10329	HP:0002650	Scoliosis
OMIM:253800	TMEM5	10329	HP:0000648	Optic atrophy
OMIM:253800	TMEM5	10329	HP:0001284	Areflexia
OMIM:253800	TMEM5	10329	HP:0002084	Encephalocele
OMIM:253800	TMEM5	10329	HP:0000486	Strabismus
OMIM:253800	TMEM5	10329	HP:0003593	Infantile onset
OMIM:253800	TMEM5	10329	HP:0001669	Transposition of the great arteries
OMIM:253800	TMEM5	10329	HP:0001302	Pachygyria
OMIM:253800	TMEM5	10329	HP:0001250	Seizures
OMIM:253800	TMEM5	10329	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	TMEM5	10329	HP:0002126	Polymicrogyria
OMIM:253800	TMEM5	10329	HP:0003202	Skeletal muscle atrophy
OMIM:253800	TMEM5	10329	HP:0001321	Cerebellar hypoplasia
OMIM:253800	TMEM5	10329	HP:0001642	Pulmonic stenosis
OMIM:253800	TMEM5	10329	HP:0007973	Retinal dysplasia
OMIM:253800	TMEM5	10329	HP:0002350	Cerebellar cyst
OMIM:253800	TMEM5	10329	HP:0003306	Spinal rigidity
OMIM:253800	TMEM5	10329	HP:0000238	Hydrocephalus
OMIM:253800	TMEM5	10329	HP:0001360	Holoprosencephaly
OMIM:253800	TMEM5	10329	HP:0002093	Respiratory insufficiency
OMIM:253800	TMEM5	10329	HP:0001371	Flexion contracture
OMIM:253800	TMEM5	10329	HP:0001631	Atria septal defect
OMIM:253800	TMEM5	10329	HP:0008981	Calf muscle hypertrophy
OMIM:253800	TMEM5	10329	HP:0001249	Intellectual disability
OMIM:253800	TMEM5	10329	HP:0000518	Cataract
OMIM:253800	TMEM5	10329	HP:0002267	Exaggerated startle response
OMIM:253800	TMEM5	10329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	TMEM5	10329	HP:0000540	Hypermetropia
OMIM:253800	TMEM5	10329	HP:0001252	Muscular hypotonia
OMIM:253800	TMEM5	10329	HP:0001274	Agenesis of corpus callosum
OMIM:253800	TMEM5	10329	HP:0001324	Muscle weakness
OMIM:253800	TMEM5	10329	HP:0000541	Retinal detachment
OMIM:253800	TMEM5	10329	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	POMGNT2	84892	HP:0001685	Myocardial fibrosis
OMIM:253800	POMGNT2	84892	HP:0003741	Congenital muscular dystrophy
OMIM:253800	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:253800	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:253800	POMGNT2	84892	HP:0000568	Microphthalmia
OMIM:253800	POMGNT2	84892	HP:0000545	Myopia
OMIM:253800	POMGNT2	84892	HP:0002650	Scoliosis
OMIM:253800	POMGNT2	84892	HP:0000648	Optic atrophy
OMIM:253800	POMGNT2	84892	HP:0001284	Areflexia
OMIM:253800	POMGNT2	84892	HP:0002084	Encephalocele
OMIM:253800	POMGNT2	84892	HP:0000486	Strabismus
OMIM:253800	POMGNT2	84892	HP:0003593	Infantile onset
OMIM:253800	POMGNT2	84892	HP:0001669	Transposition of the great arteries
OMIM:253800	POMGNT2	84892	HP:0001302	Pachygyria
OMIM:253800	POMGNT2	84892	HP:0001250	Seizures
OMIM:253800	POMGNT2	84892	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	POMGNT2	84892	HP:0002126	Polymicrogyria
OMIM:253800	POMGNT2	84892	HP:0003202	Skeletal muscle atrophy
OMIM:253800	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
OMIM:253800	POMGNT2	84892	HP:0001642	Pulmonic stenosis
OMIM:253800	POMGNT2	84892	HP:0007973	Retinal dysplasia
OMIM:253800	POMGNT2	84892	HP:0002350	Cerebellar cyst
OMIM:253800	POMGNT2	84892	HP:0003306	Spinal rigidity
OMIM:253800	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:253800	POMGNT2	84892	HP:0001360	Holoprosencephaly
OMIM:253800	POMGNT2	84892	HP:0002093	Respiratory insufficiency
OMIM:253800	POMGNT2	84892	HP:0001371	Flexion contracture
OMIM:253800	POMGNT2	84892	HP:0001631	Atria septal defect
OMIM:253800	POMGNT2	84892	HP:0008981	Calf muscle hypertrophy
OMIM:253800	POMGNT2	84892	HP:0001249	Intellectual disability
OMIM:253800	POMGNT2	84892	HP:0000518	Cataract
OMIM:253800	POMGNT2	84892	HP:0002267	Exaggerated startle response
OMIM:253800	POMGNT2	84892	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	POMGNT2	84892	HP:0000540	Hypermetropia
OMIM:253800	POMGNT2	84892	HP:0001252	Muscular hypotonia
OMIM:253800	POMGNT2	84892	HP:0001274	Agenesis of corpus callosum
OMIM:253800	POMGNT2	84892	HP:0001324	Muscle weakness
OMIM:253800	POMGNT2	84892	HP:0000541	Retinal detachment
OMIM:253800	POMGNT2	84892	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:253800	LARGE	9215	HP:0001685	Myocardial fibrosis
OMIM:253800	LARGE	9215	HP:0003741	Congenital muscular dystrophy
OMIM:253800	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:253800	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:253800	LARGE	9215	HP:0000568	Microphthalmia
OMIM:253800	LARGE	9215	HP:0000545	Myopia
OMIM:253800	LARGE	9215	HP:0002650	Scoliosis
OMIM:253800	LARGE	9215	HP:0000648	Optic atrophy
OMIM:253800	LARGE	9215	HP:0001284	Areflexia
OMIM:253800	LARGE	9215	HP:0002084	Encephalocele
OMIM:253800	LARGE	9215	HP:0000486	Strabismus
OMIM:253800	LARGE	9215	HP:0003593	Infantile onset
OMIM:253800	LARGE	9215	HP:0001669	Transposition of the great arteries
OMIM:253800	LARGE	9215	HP:0001302	Pachygyria
OMIM:253800	LARGE	9215	HP:0001250	Seizures
OMIM:253800	LARGE	9215	HP:0002365	Hypoplasia of the brainstem
OMIM:253800	LARGE	9215	HP:0002126	Polymicrogyria
OMIM:253800	LARGE	9215	HP:0003202	Skeletal muscle atrophy
OMIM:253800	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:253800	LARGE	9215	HP:0001642	Pulmonic stenosis
OMIM:253800	LARGE	9215	HP:0007973	Retinal dysplasia
OMIM:253800	LARGE	9215	HP:0002350	Cerebellar cyst
OMIM:253800	LARGE	9215	HP:0003306	Spinal rigidity
OMIM:253800	LARGE	9215	HP:0000238	Hydrocephalus
OMIM:253800	LARGE	9215	HP:0001360	Holoprosencephaly
OMIM:253800	LARGE	9215	HP:0002093	Respiratory insufficiency
OMIM:253800	LARGE	9215	HP:0001371	Flexion contracture
OMIM:253800	LARGE	9215	HP:0001631	Atria septal defect
OMIM:253800	LARGE	9215	HP:0008981	Calf muscle hypertrophy
OMIM:253800	LARGE	9215	HP:0001249	Intellectual disability
OMIM:253800	LARGE	9215	HP:0000518	Cataract
OMIM:253800	LARGE	9215	HP:0002267	Exaggerated startle response
OMIM:253800	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:253800	LARGE	9215	HP:0000540	Hypermetropia
OMIM:253800	LARGE	9215	HP:0001252	Muscular hypotonia
OMIM:253800	LARGE	9215	HP:0001274	Agenesis of corpus callosum
OMIM:253800	LARGE	9215	HP:0001324	Muscle weakness
OMIM:253800	LARGE	9215	HP:0000541	Retinal detachment
OMIM:253800	LARGE	9215	HP:0007348	Hypoplasia of the pyramidal tract
OMIM:613027	PHKA2	5256	HP:0003593	Infantile onset
OMIM:613027	PHKA2	5256	HP:0001394	Cirrhosis
OMIM:613027	PHKA2	5256	HP:0002240	Hepatomegaly
OMIM:613027	PHKA2	5256	HP:0001744	Splenomegaly
OMIM:613027	PHKA2	5256	HP:0002910	Elevated hepatic transaminases
OMIM:613027	PHKA2	5256	HP:0001946	Ketosis
OMIM:613027	PHKA2	5256	HP:0001408	Bile duct proliferation
OMIM:613027	PHKA2	5256	HP:0002155	Hypertriglyceridemia
OMIM:613027	PHKA2	5256	HP:0000007	Autosomal recessive inheritance
OMIM:613027	PHKA2	5256	HP:0001252	Muscular hypotonia
OMIM:613027	PHKA2	5256	HP:0001270	Motor delay
OMIM:613027	PHKA2	5256	HP:0003128	Lactic acidosis
OMIM:613027	PHKA2	5256	HP:0001510	Growth delay
OMIM:613027	PHKG2	5261	HP:0003593	Infantile onset
OMIM:613027	PHKG2	5261	HP:0001394	Cirrhosis
OMIM:613027	PHKG2	5261	HP:0002240	Hepatomegaly
OMIM:613027	PHKG2	5261	HP:0001744	Splenomegaly
OMIM:613027	PHKG2	5261	HP:0002910	Elevated hepatic transaminases
OMIM:613027	PHKG2	5261	HP:0001946	Ketosis
OMIM:613027	PHKG2	5261	HP:0001408	Bile duct proliferation
OMIM:613027	PHKG2	5261	HP:0002155	Hypertriglyceridemia
OMIM:613027	PHKG2	5261	HP:0000007	Autosomal recessive inheritance
OMIM:613027	PHKG2	5261	HP:0001252	Muscular hypotonia
OMIM:613027	PHKG2	5261	HP:0001270	Motor delay
OMIM:613027	PHKG2	5261	HP:0003128	Lactic acidosis
OMIM:613027	PHKG2	5261	HP:0001510	Growth delay
OMIM:613830	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:613830	SLC24A1	9187	HP:0000007	Autosomal recessive inheritance
OMIM:613830	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:613830	GRM6	2916	HP:0000007	Autosomal recessive inheritance
OMIM:613830	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:613830	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613830	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:613830	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:613830	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:613830	LRIT3	345193	HP:0000007	Autosomal recessive inheritance
OMIM:613830	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:613830	CABP4	57010	HP:0000007	Autosomal recessive inheritance
OMIM:613830	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:613830	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:613830	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:613830	TRPM1	4308	HP:0000007	Autosomal recessive inheritance
OMIM:613830	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:613830	GPR179	440435	HP:0000007	Autosomal recessive inheritance
OMIM:613830	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:613830	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613830	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:613830	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613830	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:613830	NYX	60506	HP:0000007	Autosomal recessive inheritance
OMIM:613830	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:613830	GNAT1	2779	HP:0000007	Autosomal recessive inheritance
OMIM:613830	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:613830	GRK1	6011	HP:0000007	Autosomal recessive inheritance
OMIM:605670	C1QTNF5	114902	HP:0000546	Retinal degeneration
OMIM:605670	C1QTNF5	114902	HP:0000006	Autosomal dominant inheritance
OMIM:605670	C1QTNF5	114902	HP:0000575	Scotoma
OMIM:605670	C1QTNF5	114902	HP:0000510	Rod-cone dystrophy
OMIM:605670	C1QTNF5	114902	HP:0000572	Visual loss
OMIM:605670	C1QTNF5	114902	HP:0007830	Adult-onset night blindness
OMIM:615905	KCNB1	3745	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	KCNB1	3745	HP:0002133	Status epilepticus
OMIM:615905	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:615905	PIGQ	9091	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	PIGQ	9091	HP:0002133	Status epilepticus
OMIM:615905	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:615905	SLC25A22	79751	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	SLC25A22	79751	HP:0002133	Status epilepticus
OMIM:615905	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:615905	CDKL5	6792	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	CDKL5	6792	HP:0002133	Status epilepticus
OMIM:615905	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:615905	KCNQ2	3785	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	KCNQ2	3785	HP:0002133	Status epilepticus
OMIM:615905	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:615905	SLC13A5	284111	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	SLC13A5	284111	HP:0002133	Status epilepticus
OMIM:615905	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:615905	SIK1	150094	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	SIK1	150094	HP:0002133	Status epilepticus
OMIM:615905	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:615905	HCN1	348980	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	HCN1	348980	HP:0002133	Status epilepticus
OMIM:615905	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:615905	PNKP	11284	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	PNKP	11284	HP:0002133	Status epilepticus
OMIM:615905	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:615905	SCN2A	6326	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	SCN2A	6326	HP:0002133	Status epilepticus
OMIM:615905	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:615905	GNAO1	2775	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	GNAO1	2775	HP:0002133	Status epilepticus
OMIM:615905	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:615905	NECAP1	25977	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	NECAP1	25977	HP:0002133	Status epilepticus
OMIM:615905	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:615905	ARX	170302	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	ARX	170302	HP:0002133	Status epilepticus
OMIM:615905	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:615905	STXBP1	6812	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	STXBP1	6812	HP:0002133	Status epilepticus
OMIM:615905	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:615905	WWOX	51741	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	WWOX	51741	HP:0002133	Status epilepticus
OMIM:615905	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:615905	CASK	8573	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	CASK	8573	HP:0002133	Status epilepticus
OMIM:615905	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:615905	SCN8A	6334	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	SCN8A	6334	HP:0002133	Status epilepticus
OMIM:615905	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:615905	DNM1	1759	HP:0008936	Muscular hypotonia of the trunk
OMIM:615905	DNM1	1759	HP:0002133	Status epilepticus
OMIM:615905	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:614839	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:614839	PROK2	60675	HP:0000458	Anosmia
OMIM:614839	PROK2	60675	HP:0000007	Autosomal recessive inheritance
OMIM:614839	PROK2	60675	HP:0001256	Intellectual disability, mild
OMIM:614839	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:614839	PROKR2	128674	HP:0000458	Anosmia
OMIM:614839	PROKR2	128674	HP:0000007	Autosomal recessive inheritance
OMIM:614839	PROKR2	128674	HP:0001256	Intellectual disability, mild
OMIM:614839	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:614839	WDR11	55717	HP:0000458	Anosmia
OMIM:614839	WDR11	55717	HP:0000007	Autosomal recessive inheritance
OMIM:614839	WDR11	55717	HP:0001256	Intellectual disability, mild
OMIM:614839	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	KISS1	3814	HP:0000786	Primary amenorrhea
OMIM:614839	KISS1	3814	HP:0000458	Anosmia
OMIM:614839	KISS1	3814	HP:0000007	Autosomal recessive inheritance
OMIM:614839	KISS1	3814	HP:0001256	Intellectual disability, mild
OMIM:614839	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	GNRH1	2796	HP:0000786	Primary amenorrhea
OMIM:614839	GNRH1	2796	HP:0000458	Anosmia
OMIM:614839	GNRH1	2796	HP:0000007	Autosomal recessive inheritance
OMIM:614839	GNRH1	2796	HP:0001256	Intellectual disability, mild
OMIM:614839	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:614839	FGF8	2253	HP:0000458	Anosmia
OMIM:614839	FGF8	2253	HP:0000007	Autosomal recessive inheritance
OMIM:614839	FGF8	2253	HP:0001256	Intellectual disability, mild
OMIM:614839	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	GNRHR	2798	HP:0000786	Primary amenorrhea
OMIM:614839	GNRHR	2798	HP:0000458	Anosmia
OMIM:614839	GNRHR	2798	HP:0000007	Autosomal recessive inheritance
OMIM:614839	GNRHR	2798	HP:0001256	Intellectual disability, mild
OMIM:614839	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	TAC3	6866	HP:0000786	Primary amenorrhea
OMIM:614839	TAC3	6866	HP:0000458	Anosmia
OMIM:614839	TAC3	6866	HP:0000007	Autosomal recessive inheritance
OMIM:614839	TAC3	6866	HP:0001256	Intellectual disability, mild
OMIM:614839	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:614839	ANOS1	3730	HP:0000458	Anosmia
OMIM:614839	ANOS1	3730	HP:0000007	Autosomal recessive inheritance
OMIM:614839	ANOS1	3730	HP:0001256	Intellectual disability, mild
OMIM:614839	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:614839	HS6ST1	9394	HP:0000458	Anosmia
OMIM:614839	HS6ST1	9394	HP:0000007	Autosomal recessive inheritance
OMIM:614839	HS6ST1	9394	HP:0001256	Intellectual disability, mild
OMIM:614839	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:614839	CHD7	55636	HP:0000458	Anosmia
OMIM:614839	CHD7	55636	HP:0000007	Autosomal recessive inheritance
OMIM:614839	CHD7	55636	HP:0001256	Intellectual disability, mild
OMIM:614839	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:614839	FGFR1	2260	HP:0000458	Anosmia
OMIM:614839	FGFR1	2260	HP:0000007	Autosomal recessive inheritance
OMIM:614839	FGFR1	2260	HP:0001256	Intellectual disability, mild
OMIM:614839	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:614839	TACR3	6870	HP:0000458	Anosmia
OMIM:614839	TACR3	6870	HP:0000007	Autosomal recessive inheritance
OMIM:614839	TACR3	6870	HP:0001256	Intellectual disability, mild
OMIM:614839	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:614839	FGF17	8822	HP:0000458	Anosmia
OMIM:614839	FGF17	8822	HP:0000007	Autosomal recessive inheritance
OMIM:614839	FGF17	8822	HP:0001256	Intellectual disability, mild
OMIM:614839	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:614839	DUSP6	1848	HP:0000458	Anosmia
OMIM:614839	DUSP6	1848	HP:0000007	Autosomal recessive inheritance
OMIM:614839	DUSP6	1848	HP:0001256	Intellectual disability, mild
OMIM:614839	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:614839	SPRY4	81848	HP:0000458	Anosmia
OMIM:614839	SPRY4	81848	HP:0000007	Autosomal recessive inheritance
OMIM:614839	SPRY4	81848	HP:0001256	Intellectual disability, mild
OMIM:614839	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:614839	KISS1R	84634	HP:0000458	Anosmia
OMIM:614839	KISS1R	84634	HP:0000007	Autosomal recessive inheritance
OMIM:614839	KISS1R	84634	HP:0001256	Intellectual disability, mild
OMIM:614839	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614839	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:614839	NSMF	26012	HP:0000458	Anosmia
OMIM:614839	NSMF	26012	HP:0000007	Autosomal recessive inheritance
OMIM:614839	NSMF	26012	HP:0001256	Intellectual disability, mild
OMIM:614839	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:610168	TGFB2	7042	HP:0004955	Generalized arterial tortuosity
OMIM:610168	TGFB2	7042	HP:0001249	Intellectual disability
OMIM:610168	TGFB2	7042	HP:0000175	Cleft palate
OMIM:610168	TGFB2	7042	HP:0000347	Micrognathia
OMIM:610168	TGFB2	7042	HP:0000238	Hydrocephalus
OMIM:610168	TGFB2	7042	HP:0000278	Retrognathia
OMIM:610168	TGFB2	7042	HP:0001762	Talipes equinovarus
OMIM:610168	TGFB2	7042	HP:0001156	Brachydactyly syndrome
OMIM:610168	TGFB2	7042	HP:0000023	Inguinal hernia
OMIM:610168	TGFB2	7042	HP:0001363	Craniosynostosis
OMIM:610168	TGFB2	7042	HP:0001647	Bicuspid aortic valve
OMIM:610168	TGFB2	7042	HP:0000193	Bifid uvula
OMIM:610168	TGFB2	7042	HP:0000766	Abnormality of the sternum
OMIM:610168	TGFB2	7042	HP:0001166	Arachnodactyly
OMIM:610168	TGFB2	7042	HP:0000577	Exotropia
OMIM:610168	TGFB2	7042	HP:0000006	Autosomal dominant inheritance
OMIM:610168	TGFB2	7042	HP:0001634	Mitral valve prolapse
OMIM:610168	TGFB2	7042	HP:0002650	Scoliosis
OMIM:610168	TGFB2	7042	HP:0000272	Malar flattening
OMIM:610168	TGFB2	7042	HP:0004937	Pulmonary artery aneurysm
OMIM:610168	TGFB2	7042	HP:0001263	Global developmental delay
OMIM:610168	TGFB2	7042	HP:0000592	Blue sclerae
OMIM:610168	TGFB2	7042	HP:0001159	Syndactyly
OMIM:610168	TGFB2	7042	HP:0009473	Joint contracture of the hand
OMIM:610168	TGFB2	7042	HP:0100259	Postaxial polydactyly
OMIM:610168	TGFB2	7042	HP:0000316	Hypertelorism
OMIM:610168	TGFB2	7042	HP:0001388	Joint laxity
OMIM:610168	TGFB2	7042	HP:0002631	Ascending aortic aneurysm
OMIM:610168	TGFB2	7042	HP:0001643	Patent ductus arteriosus
OMIM:610168	TGFB2	7042	HP:0001631	Atria septal defect
OMIM:610168	TGFB2	7042	HP:0000939	Osteoporosis
OMIM:610168	TGFB2	7042	HP:0012385	Camptodactyly
OMIM:610168	TGFB2	7042	HP:0000520	Proptosis
OMIM:610168	TGFB2	7042	HP:0001537	Umbilical hernia
OMIM:610168	TGFB2	7042	HP:0002308	Arnold-Chiari malformation
OMIM:610168	TGFB2	7042	HP:0005807	Absent distal phalanges
OMIM:610168	MYH11	4629	HP:0004955	Generalized arterial tortuosity
OMIM:610168	MYH11	4629	HP:0001249	Intellectual disability
OMIM:610168	MYH11	4629	HP:0000175	Cleft palate
OMIM:610168	MYH11	4629	HP:0000347	Micrognathia
OMIM:610168	MYH11	4629	HP:0000238	Hydrocephalus
OMIM:610168	MYH11	4629	HP:0000278	Retrognathia
OMIM:610168	MYH11	4629	HP:0001762	Talipes equinovarus
OMIM:610168	MYH11	4629	HP:0001156	Brachydactyly syndrome
OMIM:610168	MYH11	4629	HP:0000023	Inguinal hernia
OMIM:610168	MYH11	4629	HP:0001363	Craniosynostosis
OMIM:610168	MYH11	4629	HP:0001647	Bicuspid aortic valve
OMIM:610168	MYH11	4629	HP:0000193	Bifid uvula
OMIM:610168	MYH11	4629	HP:0000766	Abnormality of the sternum
OMIM:610168	MYH11	4629	HP:0001166	Arachnodactyly
OMIM:610168	MYH11	4629	HP:0000577	Exotropia
OMIM:610168	MYH11	4629	HP:0000006	Autosomal dominant inheritance
OMIM:610168	MYH11	4629	HP:0001634	Mitral valve prolapse
OMIM:610168	MYH11	4629	HP:0002650	Scoliosis
OMIM:610168	MYH11	4629	HP:0000272	Malar flattening
OMIM:610168	MYH11	4629	HP:0004937	Pulmonary artery aneurysm
OMIM:610168	MYH11	4629	HP:0001263	Global developmental delay
OMIM:610168	MYH11	4629	HP:0000592	Blue sclerae
OMIM:610168	MYH11	4629	HP:0001159	Syndactyly
OMIM:610168	MYH11	4629	HP:0009473	Joint contracture of the hand
OMIM:610168	MYH11	4629	HP:0100259	Postaxial polydactyly
OMIM:610168	MYH11	4629	HP:0000316	Hypertelorism
OMIM:610168	MYH11	4629	HP:0001388	Joint laxity
OMIM:610168	MYH11	4629	HP:0002631	Ascending aortic aneurysm
OMIM:610168	MYH11	4629	HP:0001643	Patent ductus arteriosus
OMIM:610168	MYH11	4629	HP:0001631	Atria septal defect
OMIM:610168	MYH11	4629	HP:0000939	Osteoporosis
OMIM:610168	MYH11	4629	HP:0012385	Camptodactyly
OMIM:610168	MYH11	4629	HP:0000520	Proptosis
OMIM:610168	MYH11	4629	HP:0001537	Umbilical hernia
OMIM:610168	MYH11	4629	HP:0002308	Arnold-Chiari malformation
OMIM:610168	MYH11	4629	HP:0005807	Absent distal phalanges
OMIM:610168	TGFBR1	7046	HP:0004955	Generalized arterial tortuosity
OMIM:610168	TGFBR1	7046	HP:0001249	Intellectual disability
OMIM:610168	TGFBR1	7046	HP:0000175	Cleft palate
OMIM:610168	TGFBR1	7046	HP:0000347	Micrognathia
OMIM:610168	TGFBR1	7046	HP:0000238	Hydrocephalus
OMIM:610168	TGFBR1	7046	HP:0000278	Retrognathia
OMIM:610168	TGFBR1	7046	HP:0001762	Talipes equinovarus
OMIM:610168	TGFBR1	7046	HP:0001156	Brachydactyly syndrome
OMIM:610168	TGFBR1	7046	HP:0000023	Inguinal hernia
OMIM:610168	TGFBR1	7046	HP:0001363	Craniosynostosis
OMIM:610168	TGFBR1	7046	HP:0001647	Bicuspid aortic valve
OMIM:610168	TGFBR1	7046	HP:0000193	Bifid uvula
OMIM:610168	TGFBR1	7046	HP:0000766	Abnormality of the sternum
OMIM:610168	TGFBR1	7046	HP:0001166	Arachnodactyly
OMIM:610168	TGFBR1	7046	HP:0000577	Exotropia
OMIM:610168	TGFBR1	7046	HP:0000006	Autosomal dominant inheritance
OMIM:610168	TGFBR1	7046	HP:0001634	Mitral valve prolapse
OMIM:610168	TGFBR1	7046	HP:0002650	Scoliosis
OMIM:610168	TGFBR1	7046	HP:0000272	Malar flattening
OMIM:610168	TGFBR1	7046	HP:0004937	Pulmonary artery aneurysm
OMIM:610168	TGFBR1	7046	HP:0001263	Global developmental delay
OMIM:610168	TGFBR1	7046	HP:0000592	Blue sclerae
OMIM:610168	TGFBR1	7046	HP:0001159	Syndactyly
OMIM:610168	TGFBR1	7046	HP:0009473	Joint contracture of the hand
OMIM:610168	TGFBR1	7046	HP:0100259	Postaxial polydactyly
OMIM:610168	TGFBR1	7046	HP:0000316	Hypertelorism
OMIM:610168	TGFBR1	7046	HP:0001388	Joint laxity
OMIM:610168	TGFBR1	7046	HP:0002631	Ascending aortic aneurysm
OMIM:610168	TGFBR1	7046	HP:0001643	Patent ductus arteriosus
OMIM:610168	TGFBR1	7046	HP:0001631	Atria septal defect
OMIM:610168	TGFBR1	7046	HP:0000939	Osteoporosis
OMIM:610168	TGFBR1	7046	HP:0012385	Camptodactyly
OMIM:610168	TGFBR1	7046	HP:0000520	Proptosis
OMIM:610168	TGFBR1	7046	HP:0001537	Umbilical hernia
OMIM:610168	TGFBR1	7046	HP:0002308	Arnold-Chiari malformation
OMIM:610168	TGFBR1	7046	HP:0005807	Absent distal phalanges
OMIM:610168	TGFBR2	7048	HP:0004955	Generalized arterial tortuosity
OMIM:610168	TGFBR2	7048	HP:0001249	Intellectual disability
OMIM:610168	TGFBR2	7048	HP:0000175	Cleft palate
OMIM:610168	TGFBR2	7048	HP:0000347	Micrognathia
OMIM:610168	TGFBR2	7048	HP:0000238	Hydrocephalus
OMIM:610168	TGFBR2	7048	HP:0000278	Retrognathia
OMIM:610168	TGFBR2	7048	HP:0001762	Talipes equinovarus
OMIM:610168	TGFBR2	7048	HP:0001156	Brachydactyly syndrome
OMIM:610168	TGFBR2	7048	HP:0000023	Inguinal hernia
OMIM:610168	TGFBR2	7048	HP:0001363	Craniosynostosis
OMIM:610168	TGFBR2	7048	HP:0001647	Bicuspid aortic valve
OMIM:610168	TGFBR2	7048	HP:0000193	Bifid uvula
OMIM:610168	TGFBR2	7048	HP:0000766	Abnormality of the sternum
OMIM:610168	TGFBR2	7048	HP:0001166	Arachnodactyly
OMIM:610168	TGFBR2	7048	HP:0000577	Exotropia
OMIM:610168	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:610168	TGFBR2	7048	HP:0001634	Mitral valve prolapse
OMIM:610168	TGFBR2	7048	HP:0002650	Scoliosis
OMIM:610168	TGFBR2	7048	HP:0000272	Malar flattening
OMIM:610168	TGFBR2	7048	HP:0004937	Pulmonary artery aneurysm
OMIM:610168	TGFBR2	7048	HP:0001263	Global developmental delay
OMIM:610168	TGFBR2	7048	HP:0000592	Blue sclerae
OMIM:610168	TGFBR2	7048	HP:0001159	Syndactyly
OMIM:610168	TGFBR2	7048	HP:0009473	Joint contracture of the hand
OMIM:610168	TGFBR2	7048	HP:0100259	Postaxial polydactyly
OMIM:610168	TGFBR2	7048	HP:0000316	Hypertelorism
OMIM:610168	TGFBR2	7048	HP:0001388	Joint laxity
OMIM:610168	TGFBR2	7048	HP:0002631	Ascending aortic aneurysm
OMIM:610168	TGFBR2	7048	HP:0001643	Patent ductus arteriosus
OMIM:610168	TGFBR2	7048	HP:0001631	Atria septal defect
OMIM:610168	TGFBR2	7048	HP:0000939	Osteoporosis
OMIM:610168	TGFBR2	7048	HP:0012385	Camptodactyly
OMIM:610168	TGFBR2	7048	HP:0000520	Proptosis
OMIM:610168	TGFBR2	7048	HP:0001537	Umbilical hernia
OMIM:610168	TGFBR2	7048	HP:0002308	Arnold-Chiari malformation
OMIM:610168	TGFBR2	7048	HP:0005807	Absent distal phalanges
OMIM:610168	FBN1	2200	HP:0004955	Generalized arterial tortuosity
OMIM:610168	FBN1	2200	HP:0001249	Intellectual disability
OMIM:610168	FBN1	2200	HP:0000175	Cleft palate
OMIM:610168	FBN1	2200	HP:0000347	Micrognathia
OMIM:610168	FBN1	2200	HP:0000238	Hydrocephalus
OMIM:610168	FBN1	2200	HP:0000278	Retrognathia
OMIM:610168	FBN1	2200	HP:0001762	Talipes equinovarus
OMIM:610168	FBN1	2200	HP:0001156	Brachydactyly syndrome
OMIM:610168	FBN1	2200	HP:0000023	Inguinal hernia
OMIM:610168	FBN1	2200	HP:0001363	Craniosynostosis
OMIM:610168	FBN1	2200	HP:0001647	Bicuspid aortic valve
OMIM:610168	FBN1	2200	HP:0000193	Bifid uvula
OMIM:610168	FBN1	2200	HP:0000766	Abnormality of the sternum
OMIM:610168	FBN1	2200	HP:0001166	Arachnodactyly
OMIM:610168	FBN1	2200	HP:0000577	Exotropia
OMIM:610168	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:610168	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:610168	FBN1	2200	HP:0002650	Scoliosis
OMIM:610168	FBN1	2200	HP:0000272	Malar flattening
OMIM:610168	FBN1	2200	HP:0004937	Pulmonary artery aneurysm
OMIM:610168	FBN1	2200	HP:0001263	Global developmental delay
OMIM:610168	FBN1	2200	HP:0000592	Blue sclerae
OMIM:610168	FBN1	2200	HP:0001159	Syndactyly
OMIM:610168	FBN1	2200	HP:0009473	Joint contracture of the hand
OMIM:610168	FBN1	2200	HP:0100259	Postaxial polydactyly
OMIM:610168	FBN1	2200	HP:0000316	Hypertelorism
OMIM:610168	FBN1	2200	HP:0001388	Joint laxity
OMIM:610168	FBN1	2200	HP:0002631	Ascending aortic aneurysm
OMIM:610168	FBN1	2200	HP:0001643	Patent ductus arteriosus
OMIM:610168	FBN1	2200	HP:0001631	Atria septal defect
OMIM:610168	FBN1	2200	HP:0000939	Osteoporosis
OMIM:610168	FBN1	2200	HP:0012385	Camptodactyly
OMIM:610168	FBN1	2200	HP:0000520	Proptosis
OMIM:610168	FBN1	2200	HP:0001537	Umbilical hernia
OMIM:610168	FBN1	2200	HP:0002308	Arnold-Chiari malformation
OMIM:610168	FBN1	2200	HP:0005807	Absent distal phalanges
OMIM:610168	SMAD3	4088	HP:0004955	Generalized arterial tortuosity
OMIM:610168	SMAD3	4088	HP:0001249	Intellectual disability
OMIM:610168	SMAD3	4088	HP:0000175	Cleft palate
OMIM:610168	SMAD3	4088	HP:0000347	Micrognathia
OMIM:610168	SMAD3	4088	HP:0000238	Hydrocephalus
OMIM:610168	SMAD3	4088	HP:0000278	Retrognathia
OMIM:610168	SMAD3	4088	HP:0001762	Talipes equinovarus
OMIM:610168	SMAD3	4088	HP:0001156	Brachydactyly syndrome
OMIM:610168	SMAD3	4088	HP:0000023	Inguinal hernia
OMIM:610168	SMAD3	4088	HP:0001363	Craniosynostosis
OMIM:610168	SMAD3	4088	HP:0001647	Bicuspid aortic valve
OMIM:610168	SMAD3	4088	HP:0000193	Bifid uvula
OMIM:610168	SMAD3	4088	HP:0000766	Abnormality of the sternum
OMIM:610168	SMAD3	4088	HP:0001166	Arachnodactyly
OMIM:610168	SMAD3	4088	HP:0000577	Exotropia
OMIM:610168	SMAD3	4088	HP:0000006	Autosomal dominant inheritance
OMIM:610168	SMAD3	4088	HP:0001634	Mitral valve prolapse
OMIM:610168	SMAD3	4088	HP:0002650	Scoliosis
OMIM:610168	SMAD3	4088	HP:0000272	Malar flattening
OMIM:610168	SMAD3	4088	HP:0004937	Pulmonary artery aneurysm
OMIM:610168	SMAD3	4088	HP:0001263	Global developmental delay
OMIM:610168	SMAD3	4088	HP:0000592	Blue sclerae
OMIM:610168	SMAD3	4088	HP:0001159	Syndactyly
OMIM:610168	SMAD3	4088	HP:0009473	Joint contracture of the hand
OMIM:610168	SMAD3	4088	HP:0100259	Postaxial polydactyly
OMIM:610168	SMAD3	4088	HP:0000316	Hypertelorism
OMIM:610168	SMAD3	4088	HP:0001388	Joint laxity
OMIM:610168	SMAD3	4088	HP:0002631	Ascending aortic aneurysm
OMIM:610168	SMAD3	4088	HP:0001643	Patent ductus arteriosus
OMIM:610168	SMAD3	4088	HP:0001631	Atria septal defect
OMIM:610168	SMAD3	4088	HP:0000939	Osteoporosis
OMIM:610168	SMAD3	4088	HP:0012385	Camptodactyly
OMIM:610168	SMAD3	4088	HP:0000520	Proptosis
OMIM:610168	SMAD3	4088	HP:0001537	Umbilical hernia
OMIM:610168	SMAD3	4088	HP:0002308	Arnold-Chiari malformation
OMIM:610168	SMAD3	4088	HP:0005807	Absent distal phalanges
OMIM:610168	PRKG1	5592	HP:0004955	Generalized arterial tortuosity
OMIM:610168	PRKG1	5592	HP:0001249	Intellectual disability
OMIM:610168	PRKG1	5592	HP:0000175	Cleft palate
OMIM:610168	PRKG1	5592	HP:0000347	Micrognathia
OMIM:610168	PRKG1	5592	HP:0000238	Hydrocephalus
OMIM:610168	PRKG1	5592	HP:0000278	Retrognathia
OMIM:610168	PRKG1	5592	HP:0001762	Talipes equinovarus
OMIM:610168	PRKG1	5592	HP:0001156	Brachydactyly syndrome
OMIM:610168	PRKG1	5592	HP:0000023	Inguinal hernia
OMIM:610168	PRKG1	5592	HP:0001363	Craniosynostosis
OMIM:610168	PRKG1	5592	HP:0001647	Bicuspid aortic valve
OMIM:610168	PRKG1	5592	HP:0000193	Bifid uvula
OMIM:610168	PRKG1	5592	HP:0000766	Abnormality of the sternum
OMIM:610168	PRKG1	5592	HP:0001166	Arachnodactyly
OMIM:610168	PRKG1	5592	HP:0000577	Exotropia
OMIM:610168	PRKG1	5592	HP:0000006	Autosomal dominant inheritance
OMIM:610168	PRKG1	5592	HP:0001634	Mitral valve prolapse
OMIM:610168	PRKG1	5592	HP:0002650	Scoliosis
OMIM:610168	PRKG1	5592	HP:0000272	Malar flattening
OMIM:610168	PRKG1	5592	HP:0004937	Pulmonary artery aneurysm
OMIM:610168	PRKG1	5592	HP:0001263	Global developmental delay
OMIM:610168	PRKG1	5592	HP:0000592	Blue sclerae
OMIM:610168	PRKG1	5592	HP:0001159	Syndactyly
OMIM:610168	PRKG1	5592	HP:0009473	Joint contracture of the hand
OMIM:610168	PRKG1	5592	HP:0100259	Postaxial polydactyly
OMIM:610168	PRKG1	5592	HP:0000316	Hypertelorism
OMIM:610168	PRKG1	5592	HP:0001388	Joint laxity
OMIM:610168	PRKG1	5592	HP:0002631	Ascending aortic aneurysm
OMIM:610168	PRKG1	5592	HP:0001643	Patent ductus arteriosus
OMIM:610168	PRKG1	5592	HP:0001631	Atria septal defect
OMIM:610168	PRKG1	5592	HP:0000939	Osteoporosis
OMIM:610168	PRKG1	5592	HP:0012385	Camptodactyly
OMIM:610168	PRKG1	5592	HP:0000520	Proptosis
OMIM:610168	PRKG1	5592	HP:0001537	Umbilical hernia
OMIM:610168	PRKG1	5592	HP:0002308	Arnold-Chiari malformation
OMIM:610168	PRKG1	5592	HP:0005807	Absent distal phalanges
OMIM:610168	ACTA2	59	HP:0004955	Generalized arterial tortuosity
OMIM:610168	ACTA2	59	HP:0001249	Intellectual disability
OMIM:610168	ACTA2	59	HP:0000175	Cleft palate
OMIM:610168	ACTA2	59	HP:0000347	Micrognathia
OMIM:610168	ACTA2	59	HP:0000238	Hydrocephalus
OMIM:610168	ACTA2	59	HP:0000278	Retrognathia
OMIM:610168	ACTA2	59	HP:0001762	Talipes equinovarus
OMIM:610168	ACTA2	59	HP:0001156	Brachydactyly syndrome
OMIM:610168	ACTA2	59	HP:0000023	Inguinal hernia
OMIM:610168	ACTA2	59	HP:0001363	Craniosynostosis
OMIM:610168	ACTA2	59	HP:0001647	Bicuspid aortic valve
OMIM:610168	ACTA2	59	HP:0000193	Bifid uvula
OMIM:610168	ACTA2	59	HP:0000766	Abnormality of the sternum
OMIM:610168	ACTA2	59	HP:0001166	Arachnodactyly
OMIM:610168	ACTA2	59	HP:0000577	Exotropia
OMIM:610168	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:610168	ACTA2	59	HP:0001634	Mitral valve prolapse
OMIM:610168	ACTA2	59	HP:0002650	Scoliosis
OMIM:610168	ACTA2	59	HP:0000272	Malar flattening
OMIM:610168	ACTA2	59	HP:0004937	Pulmonary artery aneurysm
OMIM:610168	ACTA2	59	HP:0001263	Global developmental delay
OMIM:610168	ACTA2	59	HP:0000592	Blue sclerae
OMIM:610168	ACTA2	59	HP:0001159	Syndactyly
OMIM:610168	ACTA2	59	HP:0009473	Joint contracture of the hand
OMIM:610168	ACTA2	59	HP:0100259	Postaxial polydactyly
OMIM:610168	ACTA2	59	HP:0000316	Hypertelorism
OMIM:610168	ACTA2	59	HP:0001388	Joint laxity
OMIM:610168	ACTA2	59	HP:0002631	Ascending aortic aneurysm
OMIM:610168	ACTA2	59	HP:0001643	Patent ductus arteriosus
OMIM:610168	ACTA2	59	HP:0001631	Atria septal defect
OMIM:610168	ACTA2	59	HP:0000939	Osteoporosis
OMIM:610168	ACTA2	59	HP:0012385	Camptodactyly
OMIM:610168	ACTA2	59	HP:0000520	Proptosis
OMIM:610168	ACTA2	59	HP:0001537	Umbilical hernia
OMIM:610168	ACTA2	59	HP:0002308	Arnold-Chiari malformation
OMIM:610168	ACTA2	59	HP:0005807	Absent distal phalanges
OMIM:610168	MFAP5	8076	HP:0004955	Generalized arterial tortuosity
OMIM:610168	MFAP5	8076	HP:0001249	Intellectual disability
OMIM:610168	MFAP5	8076	HP:0000175	Cleft palate
OMIM:610168	MFAP5	8076	HP:0000347	Micrognathia
OMIM:610168	MFAP5	8076	HP:0000238	Hydrocephalus
OMIM:610168	MFAP5	8076	HP:0000278	Retrognathia
OMIM:610168	MFAP5	8076	HP:0001762	Talipes equinovarus
OMIM:610168	MFAP5	8076	HP:0001156	Brachydactyly syndrome
OMIM:610168	MFAP5	8076	HP:0000023	Inguinal hernia
OMIM:610168	MFAP5	8076	HP:0001363	Craniosynostosis
OMIM:610168	MFAP5	8076	HP:0001647	Bicuspid aortic valve
OMIM:610168	MFAP5	8076	HP:0000193	Bifid uvula
OMIM:610168	MFAP5	8076	HP:0000766	Abnormality of the sternum
OMIM:610168	MFAP5	8076	HP:0001166	Arachnodactyly
OMIM:610168	MFAP5	8076	HP:0000577	Exotropia
OMIM:610168	MFAP5	8076	HP:0000006	Autosomal dominant inheritance
OMIM:610168	MFAP5	8076	HP:0001634	Mitral valve prolapse
OMIM:610168	MFAP5	8076	HP:0002650	Scoliosis
OMIM:610168	MFAP5	8076	HP:0000272	Malar flattening
OMIM:610168	MFAP5	8076	HP:0004937	Pulmonary artery aneurysm
OMIM:610168	MFAP5	8076	HP:0001263	Global developmental delay
OMIM:610168	MFAP5	8076	HP:0000592	Blue sclerae
OMIM:610168	MFAP5	8076	HP:0001159	Syndactyly
OMIM:610168	MFAP5	8076	HP:0009473	Joint contracture of the hand
OMIM:610168	MFAP5	8076	HP:0100259	Postaxial polydactyly
OMIM:610168	MFAP5	8076	HP:0000316	Hypertelorism
OMIM:610168	MFAP5	8076	HP:0001388	Joint laxity
OMIM:610168	MFAP5	8076	HP:0002631	Ascending aortic aneurysm
OMIM:610168	MFAP5	8076	HP:0001643	Patent ductus arteriosus
OMIM:610168	MFAP5	8076	HP:0001631	Atria septal defect
OMIM:610168	MFAP5	8076	HP:0000939	Osteoporosis
OMIM:610168	MFAP5	8076	HP:0012385	Camptodactyly
OMIM:610168	MFAP5	8076	HP:0000520	Proptosis
OMIM:610168	MFAP5	8076	HP:0001537	Umbilical hernia
OMIM:610168	MFAP5	8076	HP:0002308	Arnold-Chiari malformation
OMIM:610168	MFAP5	8076	HP:0005807	Absent distal phalanges
OMIM:610168	MYLK	4638	HP:0004955	Generalized arterial tortuosity
OMIM:610168	MYLK	4638	HP:0001249	Intellectual disability
OMIM:610168	MYLK	4638	HP:0000175	Cleft palate
OMIM:610168	MYLK	4638	HP:0000347	Micrognathia
OMIM:610168	MYLK	4638	HP:0000238	Hydrocephalus
OMIM:610168	MYLK	4638	HP:0000278	Retrognathia
OMIM:610168	MYLK	4638	HP:0001762	Talipes equinovarus
OMIM:610168	MYLK	4638	HP:0001156	Brachydactyly syndrome
OMIM:610168	MYLK	4638	HP:0000023	Inguinal hernia
OMIM:610168	MYLK	4638	HP:0001363	Craniosynostosis
OMIM:610168	MYLK	4638	HP:0001647	Bicuspid aortic valve
OMIM:610168	MYLK	4638	HP:0000193	Bifid uvula
OMIM:610168	MYLK	4638	HP:0000766	Abnormality of the sternum
OMIM:610168	MYLK	4638	HP:0001166	Arachnodactyly
OMIM:610168	MYLK	4638	HP:0000577	Exotropia
OMIM:610168	MYLK	4638	HP:0000006	Autosomal dominant inheritance
OMIM:610168	MYLK	4638	HP:0001634	Mitral valve prolapse
OMIM:610168	MYLK	4638	HP:0002650	Scoliosis
OMIM:610168	MYLK	4638	HP:0000272	Malar flattening
OMIM:610168	MYLK	4638	HP:0004937	Pulmonary artery aneurysm
OMIM:610168	MYLK	4638	HP:0001263	Global developmental delay
OMIM:610168	MYLK	4638	HP:0000592	Blue sclerae
OMIM:610168	MYLK	4638	HP:0001159	Syndactyly
OMIM:610168	MYLK	4638	HP:0009473	Joint contracture of the hand
OMIM:610168	MYLK	4638	HP:0100259	Postaxial polydactyly
OMIM:610168	MYLK	4638	HP:0000316	Hypertelorism
OMIM:610168	MYLK	4638	HP:0001388	Joint laxity
OMIM:610168	MYLK	4638	HP:0002631	Ascending aortic aneurysm
OMIM:610168	MYLK	4638	HP:0001643	Patent ductus arteriosus
OMIM:610168	MYLK	4638	HP:0001631	Atria septal defect
OMIM:610168	MYLK	4638	HP:0000939	Osteoporosis
OMIM:610168	MYLK	4638	HP:0012385	Camptodactyly
OMIM:610168	MYLK	4638	HP:0000520	Proptosis
OMIM:610168	MYLK	4638	HP:0001537	Umbilical hernia
OMIM:610168	MYLK	4638	HP:0002308	Arnold-Chiari malformation
OMIM:610168	MYLK	4638	HP:0005807	Absent distal phalanges
OMIM:136140	SRCAP	10847	HP:0000403	Recurrent otitis media
OMIM:136140	SRCAP	10847	HP:0001376	Limitation of joint mobility
OMIM:136140	SRCAP	10847	HP:0004322	Short stature
OMIM:136140	SRCAP	10847	HP:0000499	Abnormality of the eyelashes
OMIM:136140	SRCAP	10847	HP:0002019	Constipation
OMIM:136140	SRCAP	10847	HP:0000448	Prominent nose
OMIM:136140	SRCAP	10847	HP:0000470	Short neck
OMIM:136140	SRCAP	10847	HP:0000540	Hypermetropia
OMIM:136140	SRCAP	10847	HP:0001388	Joint laxity
OMIM:136140	SRCAP	10847	HP:0002750	Delayed skeletal maturation
OMIM:136140	SRCAP	10847	HP:0000047	Hypospadias
OMIM:136140	SRCAP	10847	HP:0000430	Underdeveloped nasal alae
OMIM:136140	SRCAP	10847	HP:0001511	Intrauterine growth retardation
OMIM:136140	SRCAP	10847	HP:0010761	Broad columella
OMIM:136140	SRCAP	10847	HP:0002714	Downturned corners of mouth
OMIM:136140	SRCAP	10847	HP:0000431	Wide nasal bridge
OMIM:136140	SRCAP	10847	HP:0000233	Thin vermilion border
OMIM:136140	SRCAP	10847	HP:0000325	Triangular face
OMIM:136140	SRCAP	10847	HP:0000006	Autosomal dominant inheritance
OMIM:136140	SRCAP	10847	HP:0001537	Umbilical hernia
OMIM:136140	SRCAP	10847	HP:0100736	Abnormality of the soft palate
OMIM:136140	SRCAP	10847	HP:0000322	Short philtrum
OMIM:136140	SRCAP	10847	HP:0000795	Abnormality of the urethra
OMIM:136140	SRCAP	10847	HP:0001007	Hirsutism
OMIM:136140	SRCAP	10847	HP:0000243	Trigonocephaly
OMIM:136140	SRCAP	10847	HP:0000405	Conductive hearing impairment
OMIM:136140	SRCAP	10847	HP:0001382	Joint hypermobility
OMIM:136140	SRCAP	10847	HP:0000998	Hypertrichosis
OMIM:136140	SRCAP	10847	HP:0009602	Abnormality of thumb phalanx
OMIM:136140	SRCAP	10847	HP:0002474	Expressive language delay
OMIM:136140	SRCAP	10847	HP:0002608	Celiac disease
OMIM:136140	SRCAP	10847	HP:0007018	Attention deficit hyperactivity disorder
OMIM:136140	SRCAP	10847	HP:0004209	Clinodactyly of the 5th finger
OMIM:136140	SRCAP	10847	HP:0001231	Abnormality of the fingernails
OMIM:136140	SRCAP	10847	HP:0010978	Abnormality of immune system physiology
OMIM:136140	SRCAP	10847	HP:0000889	Abnormality of the clavicle
OMIM:136140	SRCAP	10847	HP:0000358	Posteriorly rotated ears
OMIM:136140	SRCAP	10847	HP:0000023	Inguinal hernia
OMIM:136140	SRCAP	10847	HP:0000154	Wide mouth
OMIM:136140	SRCAP	10847	HP:0002024	Malabsorption
OMIM:136140	SRCAP	10847	HP:0000121	Nephrocalcinosis
OMIM:136140	SRCAP	10847	HP:0001680	Coarctation of aorta
OMIM:136140	SRCAP	10847	HP:0000368	Low-set, posteriorly rotated ears
OMIM:136140	SRCAP	10847	HP:0000126	Hydronephrosis
OMIM:136140	SRCAP	10847	HP:0000486	Strabismus
OMIM:136140	SRCAP	10847	HP:0002162	Low posterior hairline
OMIM:136140	SRCAP	10847	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:136140	SRCAP	10847	HP:0100490	Camptodactyly of finger
OMIM:136140	SRCAP	10847	HP:0000490	Deeply set eye
OMIM:136140	SRCAP	10847	HP:0000028	Cryptorchidism
OMIM:136140	SRCAP	10847	HP:0002167	Neurological speech impairment
OMIM:136140	SRCAP	10847	HP:0001608	Abnormality of the voice
OMIM:136140	SRCAP	10847	HP:0001373	Joint dislocation
OMIM:136140	SRCAP	10847	HP:0000527	Long eyelashes
OMIM:136140	SRCAP	10847	HP:0008736	Hypoplasia of penis
OMIM:136140	SRCAP	10847	HP:0001156	Brachydactyly syndrome
OMIM:136140	SRCAP	10847	HP:0000319	Smooth philtrum
OMIM:136140	SRCAP	10847	HP:0100543	Cognitive impairment
OMIM:136140	SRCAP	10847	HP:0000506	Telecanthus
OMIM:136140	SRCAP	10847	HP:0001631	Atria septal defect
OMIM:600668	ANKH	56172	HP:0000006	Autosomal dominant inheritance
OMIM:600668	ANKH	56172	HP:0002758	Osteoarthritis
OMIM:600668	ANKH	56172	HP:0000934	Chondrocalcinosis
OMIM:613157	POMGNT1	55624	HP:0003712	Skeletal muscle hypertrophy
OMIM:613157	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:613157	POMGNT1	55624	HP:0003676	Progressive
OMIM:613157	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:613157	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613157	POMGNT1	55624	HP:0000545	Myopia
OMIM:613157	POMGNT1	55624	HP:0001270	Motor delay
OMIM:613157	POMGNT1	55624	HP:0003391	Gowers sign
OMIM:613157	POMGNT1	55624	HP:0003307	Hyperlordosis
OMIM:222470	SKIV2L	6499	HP:0000193	Bifid uvula
OMIM:222470	SKIV2L	6499	HP:0100543	Cognitive impairment
OMIM:222470	SKIV2L	6499	HP:0000007	Autosomal recessive inheritance
OMIM:222470	SKIV2L	6499	HP:0001636	Tetralogy of Fallot
OMIM:222470	SKIV2L	6499	HP:0001561	Polyhydramnios
OMIM:222470	SKIV2L	6499	HP:0000494	Downslanted palpebral fissures
OMIM:222470	SKIV2L	6499	HP:0001894	Thrombocytosis
OMIM:222470	SKIV2L	6499	HP:0001395	Hepatic fibrosis
OMIM:222470	SKIV2L	6499	HP:0006267	Large placenta
OMIM:222470	SKIV2L	6499	HP:0012023	Galactosuria
OMIM:222470	SKIV2L	6499	HP:0011473	Villous atrophy
OMIM:222470	SKIV2L	6499	HP:0002007	Frontal bossing
OMIM:222470	SKIV2L	6499	HP:0004322	Short stature
OMIM:222470	SKIV2L	6499	HP:0004734	Renal cortical microcysts
OMIM:222470	SKIV2L	6499	HP:0003073	Hypoalbuminemia
OMIM:222470	SKIV2L	6499	HP:0008070	Sparse hair
OMIM:222470	SKIV2L	6499	HP:0011877	Increased mean platelet volume
OMIM:222470	SKIV2L	6499	HP:0000160	Narrow mouth
OMIM:222470	SKIV2L	6499	HP:0002299	Brittle hair
OMIM:222470	SKIV2L	6499	HP:0002212	Curly hair
OMIM:222470	SKIV2L	6499	HP:0000952	Jaundice
OMIM:222470	SKIV2L	6499	HP:0002014	Diarrhea
OMIM:222470	SKIV2L	6499	HP:0002715	Abnormality of the immune system
OMIM:222470	SKIV2L	6499	HP:0000343	Long philtrum
OMIM:222470	SKIV2L	6499	HP:0001511	Intrauterine growth retardation
OMIM:222470	SKIV2L	6499	HP:0001642	Pulmonic stenosis
OMIM:222470	SKIV2L	6499	HP:0011220	Prominent forehead
OMIM:222470	SKIV2L	6499	HP:0001732	Abnormality of the pancreas
OMIM:222470	SKIV2L	6499	HP:0009886	Trichorrhexis nodosa
OMIM:222470	SKIV2L	6499	HP:0003235	Hypermethioninemia
OMIM:222470	SKIV2L	6499	HP:0009891	Underdeveloped supraorbital ridges
OMIM:222470	SKIV2L	6499	HP:0001399	Hepatic failure
OMIM:222470	SKIV2L	6499	HP:0001659	Aortic regurgitation
OMIM:222470	SKIV2L	6499	HP:0001508	Failure to thrive
OMIM:222470	SKIV2L	6499	HP:0001518	Small for gestational age
OMIM:222470	SKIV2L	6499	HP:0002041	Intractable diarrhea
OMIM:222470	SKIV2L	6499	HP:0002240	Hepatomegaly
OMIM:222470	SKIV2L	6499	HP:0000457	Depressed nasal ridge
OMIM:222470	SKIV2L	6499	HP:0002224	Woolly hair
OMIM:222470	SKIV2L	6499	HP:0001629	Ventricular septal defect
OMIM:222470	SKIV2L	6499	HP:0000445	Wide nose
OMIM:222470	SKIV2L	6499	HP:0011031	Abnormality of iron homeostasis
OMIM:222470	SKIV2L	6499	HP:0000369	Low-set ears
OMIM:222470	SKIV2L	6499	HP:0001394	Cirrhosis
OMIM:222470	SKIV2L	6499	HP:0000316	Hypertelorism
OMIM:222470	SKIV2L	6499	HP:0000154	Wide mouth
OMIM:222470	SKIV2L	6499	HP:0000463	Anteverted nares
OMIM:222470	SKIV2L	6499	HP:0008551	Microtia
OMIM:222470	SKIV2L	6499	HP:0001396	Cholestasis
OMIM:222470	SKIV2L	6499	HP:0002213	Fine hair
OMIM:222470	SKIV2L	6499	HP:0000520	Proptosis
OMIM:222470	TTC37	9652	HP:0000193	Bifid uvula
OMIM:222470	TTC37	9652	HP:0100543	Cognitive impairment
OMIM:222470	TTC37	9652	HP:0000007	Autosomal recessive inheritance
OMIM:222470	TTC37	9652	HP:0001636	Tetralogy of Fallot
OMIM:222470	TTC37	9652	HP:0001561	Polyhydramnios
OMIM:222470	TTC37	9652	HP:0000494	Downslanted palpebral fissures
OMIM:222470	TTC37	9652	HP:0001894	Thrombocytosis
OMIM:222470	TTC37	9652	HP:0001395	Hepatic fibrosis
OMIM:222470	TTC37	9652	HP:0006267	Large placenta
OMIM:222470	TTC37	9652	HP:0012023	Galactosuria
OMIM:222470	TTC37	9652	HP:0011473	Villous atrophy
OMIM:222470	TTC37	9652	HP:0002007	Frontal bossing
OMIM:222470	TTC37	9652	HP:0004322	Short stature
OMIM:222470	TTC37	9652	HP:0004734	Renal cortical microcysts
OMIM:222470	TTC37	9652	HP:0003073	Hypoalbuminemia
OMIM:222470	TTC37	9652	HP:0008070	Sparse hair
OMIM:222470	TTC37	9652	HP:0011877	Increased mean platelet volume
OMIM:222470	TTC37	9652	HP:0000160	Narrow mouth
OMIM:222470	TTC37	9652	HP:0002299	Brittle hair
OMIM:222470	TTC37	9652	HP:0002212	Curly hair
OMIM:222470	TTC37	9652	HP:0000952	Jaundice
OMIM:222470	TTC37	9652	HP:0002014	Diarrhea
OMIM:222470	TTC37	9652	HP:0002715	Abnormality of the immune system
OMIM:222470	TTC37	9652	HP:0000343	Long philtrum
OMIM:222470	TTC37	9652	HP:0001511	Intrauterine growth retardation
OMIM:222470	TTC37	9652	HP:0001642	Pulmonic stenosis
OMIM:222470	TTC37	9652	HP:0011220	Prominent forehead
OMIM:222470	TTC37	9652	HP:0001732	Abnormality of the pancreas
OMIM:222470	TTC37	9652	HP:0009886	Trichorrhexis nodosa
OMIM:222470	TTC37	9652	HP:0003235	Hypermethioninemia
OMIM:222470	TTC37	9652	HP:0009891	Underdeveloped supraorbital ridges
OMIM:222470	TTC37	9652	HP:0001399	Hepatic failure
OMIM:222470	TTC37	9652	HP:0001659	Aortic regurgitation
OMIM:222470	TTC37	9652	HP:0001508	Failure to thrive
OMIM:222470	TTC37	9652	HP:0001518	Small for gestational age
OMIM:222470	TTC37	9652	HP:0002041	Intractable diarrhea
OMIM:222470	TTC37	9652	HP:0002240	Hepatomegaly
OMIM:222470	TTC37	9652	HP:0000457	Depressed nasal ridge
OMIM:222470	TTC37	9652	HP:0002224	Woolly hair
OMIM:222470	TTC37	9652	HP:0001629	Ventricular septal defect
OMIM:222470	TTC37	9652	HP:0000445	Wide nose
OMIM:222470	TTC37	9652	HP:0011031	Abnormality of iron homeostasis
OMIM:222470	TTC37	9652	HP:0000369	Low-set ears
OMIM:222470	TTC37	9652	HP:0001394	Cirrhosis
OMIM:222470	TTC37	9652	HP:0000316	Hypertelorism
OMIM:222470	TTC37	9652	HP:0000154	Wide mouth
OMIM:222470	TTC37	9652	HP:0000463	Anteverted nares
OMIM:222470	TTC37	9652	HP:0008551	Microtia
OMIM:222470	TTC37	9652	HP:0001396	Cholestasis
OMIM:222470	TTC37	9652	HP:0002213	Fine hair
OMIM:222470	TTC37	9652	HP:0000520	Proptosis
OMIM:135500	KCNH1	3756	HP:0000545	Myopia
OMIM:135500	KCNH1	3756	HP:0000179	Thick lower lip vermilion
OMIM:135500	KCNH1	3756	HP:0000431	Wide nasal bridge
OMIM:135500	KCNH1	3756	HP:0001250	Seizures
OMIM:135500	KCNH1	3756	HP:0001638	Cardiomyopathy
OMIM:135500	KCNH1	3756	HP:0010864	Intellectual disability, severe
OMIM:135500	KCNH1	3756	HP:0003298	Spina bifida occulta
OMIM:135500	KCNH1	3756	HP:0001744	Splenomegaly
OMIM:135500	KCNH1	3756	HP:0001507	Growth abnormality
OMIM:135500	KCNH1	3756	HP:0000787	Nephrolithiasis
OMIM:135500	KCNH1	3756	HP:0001252	Muscular hypotonia
OMIM:135500	KCNH1	3756	HP:0000684	Delayed eruption of teeth
OMIM:135500	KCNH1	3756	HP:0000358	Posteriorly rotated ears
OMIM:135500	KCNH1	3756	HP:0001007	Hirsutism
OMIM:135500	KCNH1	3756	HP:0006887	Intellectual disability, progressive
OMIM:135500	KCNH1	3756	HP:0000212	Gingival overgrowth
OMIM:135500	KCNH1	3756	HP:0002240	Hepatomegaly
OMIM:135500	KCNH1	3756	HP:0000169	Gingival fibromatosis
OMIM:135500	KCNH1	3756	HP:0000574	Thick eyebrow
OMIM:135500	KCNH1	3756	HP:0000006	Autosomal dominant inheritance
OMIM:135500	KCNH1	3756	HP:0009882	Short distal phalanx of finger
OMIM:135500	KCNH1	3756	HP:0001537	Umbilical hernia
OMIM:135500	KCNH1	3756	HP:0000664	Synophrys
OMIM:135500	KCNH1	3756	HP:0001792	Small nail
OMIM:135500	KCNH1	3756	HP:0000218	High palate
OMIM:135500	KCNH1	3756	HP:0000280	Coarse facial features
OMIM:135500	KCNH1	3756	HP:0000518	Cataract
OMIM:135500	KCNH1	3756	HP:0001643	Patent ductus arteriosus
OMIM:135500	KCNH1	3756	HP:0002650	Scoliosis
OMIM:135500	KCNH1	3756	HP:0000040	Long penis
OMIM:135500	ATP6V1B2	526	HP:0000545	Myopia
OMIM:135500	ATP6V1B2	526	HP:0000179	Thick lower lip vermilion
OMIM:135500	ATP6V1B2	526	HP:0000431	Wide nasal bridge
OMIM:135500	ATP6V1B2	526	HP:0001250	Seizures
OMIM:135500	ATP6V1B2	526	HP:0001638	Cardiomyopathy
OMIM:135500	ATP6V1B2	526	HP:0010864	Intellectual disability, severe
OMIM:135500	ATP6V1B2	526	HP:0003298	Spina bifida occulta
OMIM:135500	ATP6V1B2	526	HP:0001744	Splenomegaly
OMIM:135500	ATP6V1B2	526	HP:0001507	Growth abnormality
OMIM:135500	ATP6V1B2	526	HP:0000787	Nephrolithiasis
OMIM:135500	ATP6V1B2	526	HP:0001252	Muscular hypotonia
OMIM:135500	ATP6V1B2	526	HP:0000684	Delayed eruption of teeth
OMIM:135500	ATP6V1B2	526	HP:0000358	Posteriorly rotated ears
OMIM:135500	ATP6V1B2	526	HP:0001007	Hirsutism
OMIM:135500	ATP6V1B2	526	HP:0006887	Intellectual disability, progressive
OMIM:135500	ATP6V1B2	526	HP:0000212	Gingival overgrowth
OMIM:135500	ATP6V1B2	526	HP:0002240	Hepatomegaly
OMIM:135500	ATP6V1B2	526	HP:0000169	Gingival fibromatosis
OMIM:135500	ATP6V1B2	526	HP:0000574	Thick eyebrow
OMIM:135500	ATP6V1B2	526	HP:0000006	Autosomal dominant inheritance
OMIM:135500	ATP6V1B2	526	HP:0009882	Short distal phalanx of finger
OMIM:135500	ATP6V1B2	526	HP:0001537	Umbilical hernia
OMIM:135500	ATP6V1B2	526	HP:0000664	Synophrys
OMIM:135500	ATP6V1B2	526	HP:0001792	Small nail
OMIM:135500	ATP6V1B2	526	HP:0000218	High palate
OMIM:135500	ATP6V1B2	526	HP:0000280	Coarse facial features
OMIM:135500	ATP6V1B2	526	HP:0000518	Cataract
OMIM:135500	ATP6V1B2	526	HP:0001643	Patent ductus arteriosus
OMIM:135500	ATP6V1B2	526	HP:0002650	Scoliosis
OMIM:135500	ATP6V1B2	526	HP:0000040	Long penis
OMIM:611038	VSX2	338917	HP:0000528	Anophthalmia
OMIM:611038	VSX2	338917	HP:0009755	Ankyloblepharon
OMIM:611038	VSX2	338917	HP:0000007	Autosomal recessive inheritance
OMIM:611038	VSX2	338917	HP:0000647	Sclerocornea
OMIM:611038	VSX2	338917	HP:0000568	Microphthalmia
OMIM:611038	SOX2	6657	HP:0000528	Anophthalmia
OMIM:611038	SOX2	6657	HP:0009755	Ankyloblepharon
OMIM:611038	SOX2	6657	HP:0000007	Autosomal recessive inheritance
OMIM:611038	SOX2	6657	HP:0000647	Sclerocornea
OMIM:611038	SOX2	6657	HP:0000568	Microphthalmia
OMIM:611038	GDF3	9573	HP:0000528	Anophthalmia
OMIM:611038	GDF3	9573	HP:0009755	Ankyloblepharon
OMIM:611038	GDF3	9573	HP:0000007	Autosomal recessive inheritance
OMIM:611038	GDF3	9573	HP:0000647	Sclerocornea
OMIM:611038	GDF3	9573	HP:0000568	Microphthalmia
OMIM:611038	OTX2	5015	HP:0000528	Anophthalmia
OMIM:611038	OTX2	5015	HP:0009755	Ankyloblepharon
OMIM:611038	OTX2	5015	HP:0000007	Autosomal recessive inheritance
OMIM:611038	OTX2	5015	HP:0000647	Sclerocornea
OMIM:611038	OTX2	5015	HP:0000568	Microphthalmia
OMIM:611038	PRSS56	646960	HP:0000528	Anophthalmia
OMIM:611038	PRSS56	646960	HP:0009755	Ankyloblepharon
OMIM:611038	PRSS56	646960	HP:0000007	Autosomal recessive inheritance
OMIM:611038	PRSS56	646960	HP:0000647	Sclerocornea
OMIM:611038	PRSS56	646960	HP:0000568	Microphthalmia
OMIM:611038	ALDH1A3	220	HP:0000528	Anophthalmia
OMIM:611038	ALDH1A3	220	HP:0009755	Ankyloblepharon
OMIM:611038	ALDH1A3	220	HP:0000007	Autosomal recessive inheritance
OMIM:611038	ALDH1A3	220	HP:0000647	Sclerocornea
OMIM:611038	ALDH1A3	220	HP:0000568	Microphthalmia
OMIM:611038	RAX	30062	HP:0000528	Anophthalmia
OMIM:611038	RAX	30062	HP:0009755	Ankyloblepharon
OMIM:611038	RAX	30062	HP:0000007	Autosomal recessive inheritance
OMIM:611038	RAX	30062	HP:0000647	Sclerocornea
OMIM:611038	RAX	30062	HP:0000568	Microphthalmia
OMIM:611038	SIX6	4990	HP:0000528	Anophthalmia
OMIM:611038	SIX6	4990	HP:0009755	Ankyloblepharon
OMIM:611038	SIX6	4990	HP:0000007	Autosomal recessive inheritance
OMIM:611038	SIX6	4990	HP:0000647	Sclerocornea
OMIM:611038	SIX6	4990	HP:0000568	Microphthalmia
OMIM:194380	PIEZO1	9780	HP:0000952	Jaundice
OMIM:194380	PIEZO1	9780	HP:0012115	Hepatitis
OMIM:194380	PIEZO1	9780	HP:0000006	Autosomal dominant inheritance
OMIM:194380	PIEZO1	9780	HP:0001744	Splenomegaly
OMIM:194380	PIEZO1	9780	HP:0001081	Cholelithiasis
OMIM:194380	PIEZO1	9780	HP:0001923	Reticulocytosis
OMIM:194380	PIEZO1	9780	HP:0000980	Pallor
OMIM:194380	PIEZO1	9780	HP:0002240	Hepatomegaly
OMIM:194380	KCNN4	3783	HP:0000952	Jaundice
OMIM:194380	KCNN4	3783	HP:0012115	Hepatitis
OMIM:194380	KCNN4	3783	HP:0000006	Autosomal dominant inheritance
OMIM:194380	KCNN4	3783	HP:0001744	Splenomegaly
OMIM:194380	KCNN4	3783	HP:0001081	Cholelithiasis
OMIM:194380	KCNN4	3783	HP:0001923	Reticulocytosis
OMIM:194380	KCNN4	3783	HP:0000980	Pallor
OMIM:194380	KCNN4	3783	HP:0002240	Hepatomegaly
OMIM:613832	PRICKLE2	166336	HP:0000006	Autosomal dominant inheritance
OMIM:613832	PRICKLE2	166336	HP:0001284	Areflexia
OMIM:613832	PRICKLE2	166336	HP:0001260	Dysarthria
OMIM:613832	PRICKLE2	166336	HP:0009830	Peripheral neuropathy
OMIM:613832	PRICKLE2	166336	HP:0000639	Nystagmus
OMIM:613832	PRICKLE2	166336	HP:0001761	Pes cavus
OMIM:613832	PRICKLE2	166336	HP:0001310	Dysmetria
OMIM:613832	PRICKLE2	166336	HP:0003676	Progressive
OMIM:613832	PRICKLE2	166336	HP:0001268	Mental deterioration
OMIM:613832	PRICKLE2	166336	HP:0002353	EEG abnormality
OMIM:613832	PRICKLE2	166336	HP:0002123	Generalized myoclonic seizures
OMIM:613832	PRICKLE2	166336	HP:0001288	Gait disturbance
OMIM:613832	PRICKLE2	166336	HP:0003828	Variable expressivity
OMIM:259050	ZBTB20	26137	HP:0002797	Osteolysis
OMIM:259050	ZBTB20	26137	HP:0001956	Truncal obesity
OMIM:259050	ZBTB20	26137	HP:0000400	Macrotia
OMIM:259050	ZBTB20	26137	HP:0000717	Autism
OMIM:259050	ZBTB20	26137	HP:0000767	Pectus excavatum
OMIM:259050	ZBTB20	26137	HP:0009882	Short distal phalanx of finger
OMIM:259050	ZBTB20	26137	HP:0003273	Hip contracture
OMIM:259050	ZBTB20	26137	HP:0000494	Downslanted palpebral fissures
OMIM:259050	ZBTB20	26137	HP:0002376	Developmental regression
OMIM:259050	ZBTB20	26137	HP:0000774	Narrow chest
OMIM:259050	ZBTB20	26137	HP:0011800	Hypoplasia of midface
OMIM:259050	ZBTB20	26137	HP:0003312	Abnormal form of the vertebral bodies
OMIM:259050	ZBTB20	26137	HP:0000035	Abnormality of the testis
OMIM:259050	ZBTB20	26137	HP:0000238	Hydrocephalus
OMIM:259050	ZBTB20	26137	HP:0001798	Anonychia
OMIM:259050	ZBTB20	26137	HP:0100543	Cognitive impairment
OMIM:259050	ZBTB20	26137	HP:0000718	Aggressive behavior
OMIM:259050	ZBTB20	26137	HP:0002808	Kyphosis
OMIM:259050	ZBTB20	26137	HP:0000405	Conductive hearing impairment
OMIM:259050	ZBTB20	26137	HP:0003693	Distal amyotrophy
OMIM:259050	ZBTB20	26137	HP:0000508	Ptosis
OMIM:259050	ZBTB20	26137	HP:0003301	Irregular vertebral endplates
OMIM:259050	ZBTB20	26137	HP:0004322	Short stature
OMIM:259050	ZBTB20	26137	HP:0000174	Abnormality of the palate
OMIM:259050	ZBTB20	26137	HP:0001761	Pes cavus
OMIM:259050	ZBTB20	26137	HP:0001249	Intellectual disability
OMIM:259050	ZBTB20	26137	HP:0001357	Plagiocephaly
OMIM:259050	ZBTB20	26137	HP:0001115	Posterior polar cataract
OMIM:259050	ZBTB20	26137	HP:0000518	Cataract
OMIM:259050	ZBTB20	26137	HP:0000248	Brachycephaly
OMIM:259050	ZBTB20	26137	HP:0006380	Knee flexion contracture
OMIM:259050	ZBTB20	26137	HP:0000664	Synophrys
OMIM:259050	ZBTB20	26137	HP:0001903	Anemia
OMIM:259050	ZBTB20	26137	HP:0000272	Malar flattening
OMIM:259050	ZBTB20	26137	HP:0000365	Hearing impairment
OMIM:259050	ZBTB20	26137	HP:0002514	Cerebral calcification
OMIM:259050	ZBTB20	26137	HP:0000327	Hypoplasia of the maxilla
OMIM:259050	ZBTB20	26137	HP:0003198	Myopathy
OMIM:259050	ZBTB20	26137	HP:0000490	Deeply set eye
OMIM:259050	ZBTB20	26137	HP:0001252	Muscular hypotonia
OMIM:259050	ZBTB20	26137	HP:0001840	Metatarsus adductus
OMIM:259050	ZBTB20	26137	HP:0000179	Thick lower lip vermilion
OMIM:259050	ZBTB20	26137	HP:0002180	Neurodegeneration
OMIM:259050	ZBTB20	26137	HP:0002079	Hypoplasia of the corpus callosum
OMIM:259050	ZBTB20	26137	HP:0003745	Sporadic
OMIM:259050	ZBTB20	26137	HP:0001250	Seizures
OMIM:259050	ZBTB20	26137	HP:0003272	Abnormality of the hip bone
OMIM:259050	ZBTB20	26137	HP:0000256	Macrocephaly
OMIM:259050	ZBTB20	26137	HP:0000337	Broad forehead
OMIM:259050	ZBTB20	26137	HP:0002650	Scoliosis
OMIM:259050	ZBTB20	26137	HP:0002857	Genu valgum
OMIM:259050	ZBTB20	26137	HP:0001288	Gait disturbance
OMIM:259050	ZBTB20	26137	HP:0100716	Self-injurious behavior
OMIM:611497	PLEKHM1	9842	HP:0000007	Autosomal recessive inheritance
OMIM:611497	CLCN7	1186	HP:0000007	Autosomal recessive inheritance
OMIM:616395	ERCC2	2068	HP:0002299	Brittle hair
OMIM:616395	ERCC2	2068	HP:0004322	Short stature
OMIM:616395	ERCC2	2068	HP:0001249	Intellectual disability
OMIM:616395	ERCC2	2068	HP:0000007	Autosomal recessive inheritance
OMIM:616395	ERCC2	2068	HP:0002099	Asthma
OMIM:616395	ERCC2	2068	HP:0001019	Erythroderma
OMIM:616395	ERCC2	2068	HP:0000518	Cataract
OMIM:616395	ERCC2	2068	HP:0009473	Joint contracture of the hand
OMIM:616395	ERCC2	2068	HP:0000144	Decreased fertility
OMIM:616395	MPLKIP	136647	HP:0002299	Brittle hair
OMIM:616395	MPLKIP	136647	HP:0004322	Short stature
OMIM:616395	MPLKIP	136647	HP:0001249	Intellectual disability
OMIM:616395	MPLKIP	136647	HP:0000007	Autosomal recessive inheritance
OMIM:616395	MPLKIP	136647	HP:0002099	Asthma
OMIM:616395	MPLKIP	136647	HP:0001019	Erythroderma
OMIM:616395	MPLKIP	136647	HP:0000518	Cataract
OMIM:616395	MPLKIP	136647	HP:0009473	Joint contracture of the hand
OMIM:616395	MPLKIP	136647	HP:0000144	Decreased fertility
OMIM:616395	GTF2H5	404672	HP:0002299	Brittle hair
OMIM:616395	GTF2H5	404672	HP:0004322	Short stature
OMIM:616395	GTF2H5	404672	HP:0001249	Intellectual disability
OMIM:616395	GTF2H5	404672	HP:0000007	Autosomal recessive inheritance
OMIM:616395	GTF2H5	404672	HP:0002099	Asthma
OMIM:616395	GTF2H5	404672	HP:0001019	Erythroderma
OMIM:616395	GTF2H5	404672	HP:0000518	Cataract
OMIM:616395	GTF2H5	404672	HP:0009473	Joint contracture of the hand
OMIM:616395	GTF2H5	404672	HP:0000144	Decreased fertility
OMIM:616395	ERCC3	2071	HP:0002299	Brittle hair
OMIM:616395	ERCC3	2071	HP:0004322	Short stature
OMIM:616395	ERCC3	2071	HP:0001249	Intellectual disability
OMIM:616395	ERCC3	2071	HP:0000007	Autosomal recessive inheritance
OMIM:616395	ERCC3	2071	HP:0002099	Asthma
OMIM:616395	ERCC3	2071	HP:0001019	Erythroderma
OMIM:616395	ERCC3	2071	HP:0000518	Cataract
OMIM:616395	ERCC3	2071	HP:0009473	Joint contracture of the hand
OMIM:616395	ERCC3	2071	HP:0000144	Decreased fertility
OMIM:616395	RNF113A	7737	HP:0002299	Brittle hair
OMIM:616395	RNF113A	7737	HP:0004322	Short stature
OMIM:616395	RNF113A	7737	HP:0001249	Intellectual disability
OMIM:616395	RNF113A	7737	HP:0000007	Autosomal recessive inheritance
OMIM:616395	RNF113A	7737	HP:0002099	Asthma
OMIM:616395	RNF113A	7737	HP:0001019	Erythroderma
OMIM:616395	RNF113A	7737	HP:0000518	Cataract
OMIM:616395	RNF113A	7737	HP:0009473	Joint contracture of the hand
OMIM:616395	RNF113A	7737	HP:0000144	Decreased fertility
OMIM:609338	PPARG	5468	HP:0010982	Polygenic inheritance
OMIM:614066	AP4S1	11154	HP:0000322	Short philtrum
OMIM:614066	AP4S1	11154	HP:0000218	High palate
OMIM:614066	AP4S1	11154	HP:0002119	Ventriculomegaly
OMIM:614066	AP4S1	11154	HP:0000431	Wide nasal bridge
OMIM:614066	AP4S1	11154	HP:0003487	Babinski sign
OMIM:614066	AP4S1	11154	HP:0001258	Spastic paraplegia
OMIM:614066	AP4S1	11154	HP:0000750	Delayed speech and language development
OMIM:614066	AP4S1	11154	HP:0003577	Congenital onset
OMIM:614066	AP4S1	11154	HP:0003677	Slow progression
OMIM:614066	AP4S1	11154	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614066	AP4S1	11154	HP:0000154	Wide mouth
OMIM:614066	AP4S1	11154	HP:0002518	Abnormality of the periventricular white matter
OMIM:614066	AP4S1	11154	HP:0001260	Dysarthria
OMIM:614066	AP4S1	11154	HP:0001263	Global developmental delay
OMIM:614066	AP4S1	11154	HP:0001762	Talipes equinovarus
OMIM:614066	AP4S1	11154	HP:0001250	Seizures
OMIM:614066	AP4S1	11154	HP:0001347	Hyperreflexia
OMIM:614066	AP4S1	11154	HP:0004322	Short stature
OMIM:614066	AP4S1	11154	HP:0000007	Autosomal recessive inheritance
OMIM:614066	AP4S1	11154	HP:0000252	Microcephaly
OMIM:614066	AP4S1	11154	HP:0000280	Coarse facial features
OMIM:614066	AP4S1	11154	HP:0000414	Bulbous nose
OMIM:614066	AP4S1	11154	HP:0001763	Pes planus
OMIM:614066	AP4S1	11154	HP:0002515	Waddling gait
OMIM:614066	AP4S1	11154	HP:0010864	Intellectual disability, severe
OMIM:614066	AP4S1	11154	HP:0001332	Dystonia
OMIM:614066	AP4S1	11154	HP:0001319	Neonatal hypotonia
OMIM:614066	AP4S1	11154	HP:0002816	Genu recurvatum
OMIM:614066	AP4S1	11154	HP:0000341	Narrow forehead
OMIM:614066	AP4E1	23431	HP:0000322	Short philtrum
OMIM:614066	AP4E1	23431	HP:0000218	High palate
OMIM:614066	AP4E1	23431	HP:0002119	Ventriculomegaly
OMIM:614066	AP4E1	23431	HP:0000431	Wide nasal bridge
OMIM:614066	AP4E1	23431	HP:0003487	Babinski sign
OMIM:614066	AP4E1	23431	HP:0001258	Spastic paraplegia
OMIM:614066	AP4E1	23431	HP:0000750	Delayed speech and language development
OMIM:614066	AP4E1	23431	HP:0003577	Congenital onset
OMIM:614066	AP4E1	23431	HP:0003677	Slow progression
OMIM:614066	AP4E1	23431	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614066	AP4E1	23431	HP:0000154	Wide mouth
OMIM:614066	AP4E1	23431	HP:0002518	Abnormality of the periventricular white matter
OMIM:614066	AP4E1	23431	HP:0001260	Dysarthria
OMIM:614066	AP4E1	23431	HP:0001263	Global developmental delay
OMIM:614066	AP4E1	23431	HP:0001762	Talipes equinovarus
OMIM:614066	AP4E1	23431	HP:0001250	Seizures
OMIM:614066	AP4E1	23431	HP:0001347	Hyperreflexia
OMIM:614066	AP4E1	23431	HP:0004322	Short stature
OMIM:614066	AP4E1	23431	HP:0000007	Autosomal recessive inheritance
OMIM:614066	AP4E1	23431	HP:0000252	Microcephaly
OMIM:614066	AP4E1	23431	HP:0000280	Coarse facial features
OMIM:614066	AP4E1	23431	HP:0000414	Bulbous nose
OMIM:614066	AP4E1	23431	HP:0001763	Pes planus
OMIM:614066	AP4E1	23431	HP:0002515	Waddling gait
OMIM:614066	AP4E1	23431	HP:0010864	Intellectual disability, severe
OMIM:614066	AP4E1	23431	HP:0001332	Dystonia
OMIM:614066	AP4E1	23431	HP:0001319	Neonatal hypotonia
OMIM:614066	AP4E1	23431	HP:0002816	Genu recurvatum
OMIM:614066	AP4E1	23431	HP:0000341	Narrow forehead
OMIM:614066	AP4M1	9179	HP:0000322	Short philtrum
OMIM:614066	AP4M1	9179	HP:0000218	High palate
OMIM:614066	AP4M1	9179	HP:0002119	Ventriculomegaly
OMIM:614066	AP4M1	9179	HP:0000431	Wide nasal bridge
OMIM:614066	AP4M1	9179	HP:0003487	Babinski sign
OMIM:614066	AP4M1	9179	HP:0001258	Spastic paraplegia
OMIM:614066	AP4M1	9179	HP:0000750	Delayed speech and language development
OMIM:614066	AP4M1	9179	HP:0003577	Congenital onset
OMIM:614066	AP4M1	9179	HP:0003677	Slow progression
OMIM:614066	AP4M1	9179	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614066	AP4M1	9179	HP:0000154	Wide mouth
OMIM:614066	AP4M1	9179	HP:0002518	Abnormality of the periventricular white matter
OMIM:614066	AP4M1	9179	HP:0001260	Dysarthria
OMIM:614066	AP4M1	9179	HP:0001263	Global developmental delay
OMIM:614066	AP4M1	9179	HP:0001762	Talipes equinovarus
OMIM:614066	AP4M1	9179	HP:0001250	Seizures
OMIM:614066	AP4M1	9179	HP:0001347	Hyperreflexia
OMIM:614066	AP4M1	9179	HP:0004322	Short stature
OMIM:614066	AP4M1	9179	HP:0000007	Autosomal recessive inheritance
OMIM:614066	AP4M1	9179	HP:0000252	Microcephaly
OMIM:614066	AP4M1	9179	HP:0000280	Coarse facial features
OMIM:614066	AP4M1	9179	HP:0000414	Bulbous nose
OMIM:614066	AP4M1	9179	HP:0001763	Pes planus
OMIM:614066	AP4M1	9179	HP:0002515	Waddling gait
OMIM:614066	AP4M1	9179	HP:0010864	Intellectual disability, severe
OMIM:614066	AP4M1	9179	HP:0001332	Dystonia
OMIM:614066	AP4M1	9179	HP:0001319	Neonatal hypotonia
OMIM:614066	AP4M1	9179	HP:0002816	Genu recurvatum
OMIM:614066	AP4M1	9179	HP:0000341	Narrow forehead
OMIM:614066	AP4B1	10717	HP:0000322	Short philtrum
OMIM:614066	AP4B1	10717	HP:0000218	High palate
OMIM:614066	AP4B1	10717	HP:0002119	Ventriculomegaly
OMIM:614066	AP4B1	10717	HP:0000431	Wide nasal bridge
OMIM:614066	AP4B1	10717	HP:0003487	Babinski sign
OMIM:614066	AP4B1	10717	HP:0001258	Spastic paraplegia
OMIM:614066	AP4B1	10717	HP:0000750	Delayed speech and language development
OMIM:614066	AP4B1	10717	HP:0003577	Congenital onset
OMIM:614066	AP4B1	10717	HP:0003677	Slow progression
OMIM:614066	AP4B1	10717	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614066	AP4B1	10717	HP:0000154	Wide mouth
OMIM:614066	AP4B1	10717	HP:0002518	Abnormality of the periventricular white matter
OMIM:614066	AP4B1	10717	HP:0001260	Dysarthria
OMIM:614066	AP4B1	10717	HP:0001263	Global developmental delay
OMIM:614066	AP4B1	10717	HP:0001762	Talipes equinovarus
OMIM:614066	AP4B1	10717	HP:0001250	Seizures
OMIM:614066	AP4B1	10717	HP:0001347	Hyperreflexia
OMIM:614066	AP4B1	10717	HP:0004322	Short stature
OMIM:614066	AP4B1	10717	HP:0000007	Autosomal recessive inheritance
OMIM:614066	AP4B1	10717	HP:0000252	Microcephaly
OMIM:614066	AP4B1	10717	HP:0000280	Coarse facial features
OMIM:614066	AP4B1	10717	HP:0000414	Bulbous nose
OMIM:614066	AP4B1	10717	HP:0001763	Pes planus
OMIM:614066	AP4B1	10717	HP:0002515	Waddling gait
OMIM:614066	AP4B1	10717	HP:0010864	Intellectual disability, severe
OMIM:614066	AP4B1	10717	HP:0001332	Dystonia
OMIM:614066	AP4B1	10717	HP:0001319	Neonatal hypotonia
OMIM:614066	AP4B1	10717	HP:0002816	Genu recurvatum
OMIM:614066	AP4B1	10717	HP:0000341	Narrow forehead
OMIM:615885	RPL21	6144	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615885	RPL21	6144	HP:0200102	Sparse or absent eyelashes
OMIM:615885	LPAR6	10161	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615885	LPAR6	10161	HP:0200102	Sparse or absent eyelashes
OMIM:615885	DSG4	147409	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615885	DSG4	147409	HP:0200102	Sparse or absent eyelashes
OMIM:615885	APCDD1	147495	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615885	APCDD1	147495	HP:0200102	Sparse or absent eyelashes
OMIM:615885	SNRPE	6635	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615885	SNRPE	6635	HP:0200102	Sparse or absent eyelashes
OMIM:615885	LIPH	200879	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:615885	LIPH	200879	HP:0200102	Sparse or absent eyelashes
OMIM:610444	SLC24A1	9187	HP:0000006	Autosomal dominant inheritance
OMIM:610444	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:610444	GRM6	2916	HP:0000006	Autosomal dominant inheritance
OMIM:610444	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:610444	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:610444	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:610444	CACNA1F	778	HP:0000006	Autosomal dominant inheritance
OMIM:610444	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:610444	LRIT3	345193	HP:0000006	Autosomal dominant inheritance
OMIM:610444	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:610444	CABP4	57010	HP:0000006	Autosomal dominant inheritance
OMIM:610444	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:610444	CACNA2D4	93589	HP:0000006	Autosomal dominant inheritance
OMIM:610444	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:610444	TRPM1	4308	HP:0000006	Autosomal dominant inheritance
OMIM:610444	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:610444	GPR179	440435	HP:0000006	Autosomal dominant inheritance
OMIM:610444	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:610444	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:610444	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:610444	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:610444	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:610444	NYX	60506	HP:0000006	Autosomal dominant inheritance
OMIM:610444	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:610444	GNAT1	2779	HP:0000006	Autosomal dominant inheritance
OMIM:610444	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:610444	GRK1	6011	HP:0000006	Autosomal dominant inheritance
OMIM:610444	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:173900	PKD1	5310	HP:0000083	Renal insufficiency
OMIM:173900	PKD1	5310	HP:0000006	Autosomal dominant inheritance
OMIM:173900	PKD1	5310	HP:0001407	Hepatic cysts
OMIM:173900	PKD1	5310	HP:0001425	Heterogeneous
OMIM:173900	PKD1	5310	HP:0000113	Polycystic kidney dysplasia
OMIM:173900	PKD1	5310	HP:0002253	Colonic diverticula
OMIM:117360	ITPR1	3708	HP:0001251	Ataxia
OMIM:117360	ITPR1	3708	HP:0002075	Dysdiadochokinesis
OMIM:117360	ITPR1	3708	HP:0000639	Nystagmus
OMIM:117360	ITPR1	3708	HP:0003812	Phenotypic variability
OMIM:117360	ITPR1	3708	HP:0100543	Cognitive impairment
OMIM:117360	ITPR1	3708	HP:0001260	Dysarthria
OMIM:117360	ITPR1	3708	HP:0001270	Motor delay
OMIM:117360	ITPR1	3708	HP:0002335	Agenesis of cerebellar vermis
OMIM:117360	ITPR1	3708	HP:0002070	Limb ataxia
OMIM:117360	ITPR1	3708	HP:0001310	Dysmetria
OMIM:117360	ITPR1	3708	HP:0003577	Congenital onset
OMIM:117360	ITPR1	3708	HP:0000006	Autosomal dominant inheritance
OMIM:615349	B4GALT7	11285	HP:0000520	Proptosis
OMIM:615349	B4GALT7	11285	HP:0000974	Hyperextensible skin
OMIM:615349	B4GALT7	11285	HP:0000973	Cutis laxa
OMIM:615349	B4GALT7	11285	HP:0000767	Pectus excavatum
OMIM:615349	B4GALT7	11285	HP:0008070	Sparse hair
OMIM:615349	B4GALT7	11285	HP:0000007	Autosomal recessive inheritance
OMIM:615349	B4GALT7	11285	HP:0012368	Flat face
OMIM:615349	B4GALT7	11285	HP:0003015	Flared metaphysis
OMIM:615349	B4GALT7	11285	HP:0000175	Cleft palate
OMIM:615349	B4GALT7	11285	HP:0001762	Talipes equinovarus
OMIM:615349	B4GALT7	11285	HP:0002751	Kyphoscoliosis
OMIM:615349	B4GALT7	11285	HP:0000592	Blue sclerae
OMIM:615349	B4GALT7	11285	HP:0001263	Global developmental delay
OMIM:615349	B4GALT7	11285	HP:0000926	Platyspondyly
OMIM:615349	B4GALT7	11285	HP:0004233	Advanced ossification of carpal bones
OMIM:615349	B4GALT7	11285	HP:0011341	Long upper lip
OMIM:615349	B4GALT7	11285	HP:0004325	Decreased body weight
OMIM:615349	B4GALT7	11285	HP:0011220	Prominent forehead
OMIM:615349	B4GALT7	11285	HP:0009702	Carpal synostosis
OMIM:615349	B4GALT7	11285	HP:0002827	Hip dislocation
OMIM:615349	B4GALT7	11285	HP:0001252	Muscular hypotonia
OMIM:615349	B3GALT6	126792	HP:0000520	Proptosis
OMIM:615349	B3GALT6	126792	HP:0000974	Hyperextensible skin
OMIM:615349	B3GALT6	126792	HP:0000973	Cutis laxa
OMIM:615349	B3GALT6	126792	HP:0000767	Pectus excavatum
OMIM:615349	B3GALT6	126792	HP:0008070	Sparse hair
OMIM:615349	B3GALT6	126792	HP:0000007	Autosomal recessive inheritance
OMIM:615349	B3GALT6	126792	HP:0012368	Flat face
OMIM:615349	B3GALT6	126792	HP:0003015	Flared metaphysis
OMIM:615349	B3GALT6	126792	HP:0000175	Cleft palate
OMIM:615349	B3GALT6	126792	HP:0001762	Talipes equinovarus
OMIM:615349	B3GALT6	126792	HP:0002751	Kyphoscoliosis
OMIM:615349	B3GALT6	126792	HP:0000592	Blue sclerae
OMIM:615349	B3GALT6	126792	HP:0001263	Global developmental delay
OMIM:615349	B3GALT6	126792	HP:0000926	Platyspondyly
OMIM:615349	B3GALT6	126792	HP:0004233	Advanced ossification of carpal bones
OMIM:615349	B3GALT6	126792	HP:0011341	Long upper lip
OMIM:615349	B3GALT6	126792	HP:0004325	Decreased body weight
OMIM:615349	B3GALT6	126792	HP:0011220	Prominent forehead
OMIM:615349	B3GALT6	126792	HP:0009702	Carpal synostosis
OMIM:615349	B3GALT6	126792	HP:0002827	Hip dislocation
OMIM:615349	B3GALT6	126792	HP:0001252	Muscular hypotonia
OMIM:267750	COL18A1	80781	HP:0000272	Malar flattening
OMIM:267750	COL18A1	80781	HP:0000639	Nystagmus
OMIM:267750	COL18A1	80781	HP:0001103	Abnormality of the macula
OMIM:267750	COL18A1	80781	HP:0000486	Strabismus
OMIM:267750	COL18A1	80781	HP:0001643	Patent ductus arteriosus
OMIM:267750	COL18A1	80781	HP:0001250	Seizures
OMIM:267750	COL18A1	80781	HP:0003812	Phenotypic variability
OMIM:267750	COL18A1	80781	HP:0000076	Vesicoureteral reflux
OMIM:267750	COL18A1	80781	HP:0000505	Visual impairment
OMIM:267750	COL18A1	80781	HP:0001382	Joint hypermobility
OMIM:267750	COL18A1	80781	HP:0000518	Cataract
OMIM:267750	COL18A1	80781	HP:0002085	Occipital encephalocele
OMIM:267750	COL18A1	80781	HP:0001268	Mental deterioration
OMIM:267750	COL18A1	80781	HP:0001104	Macular hypoplasia
OMIM:267750	COL18A1	80781	HP:0001083	Ectopia lentis
OMIM:267750	COL18A1	80781	HP:0002021	Pyloric stenosis
OMIM:267750	COL18A1	80781	HP:0000541	Retinal detachment
OMIM:267750	COL18A1	80781	HP:0000572	Visual loss
OMIM:267750	COL18A1	80781	HP:0000286	Epicanthus
OMIM:267750	COL18A1	80781	HP:0001696	Situs inversus totalis
OMIM:267750	COL18A1	80781	HP:0000007	Autosomal recessive inheritance
OMIM:267750	COL18A1	80781	HP:0002119	Ventriculomegaly
OMIM:267750	COL18A1	80781	HP:0004327	Abnormality of the vitreous humor
OMIM:267750	COL18A1	80781	HP:0002126	Polymicrogyria
OMIM:267750	COL18A1	80781	HP:0000238	Hydrocephalus
OMIM:267750	COL18A1	80781	HP:0001272	Cerebellar atrophy
OMIM:267750	COL18A1	80781	HP:0002059	Cerebral atrophy
OMIM:267750	COL18A1	80781	HP:0011003	Severe Myopia
OMIM:267750	COL18A1	80781	HP:0005280	Depressed nasal bridge
OMIM:267750	COL18A1	80781	HP:0000545	Myopia
OMIM:267750	COL18A1	80781	HP:0002084	Encephalocele
OMIM:267750	COL18A1	80781	HP:0000655	Vitreoretinal degeneration
OMIM:267750	COL18A1	80781	HP:0000519	Congenital cataract
OMIM:267750	COL18A1	80781	HP:0001251	Ataxia
OMIM:607678	EGR2	1959	HP:0009027	Foot dorsiflexor weakness
OMIM:607678	EGR2	1959	HP:0003431	Decreased motor nerve conduction velocity
OMIM:607678	EGR2	1959	HP:0003828	Variable expressivity
OMIM:607678	EGR2	1959	HP:0000006	Autosomal dominant inheritance
OMIM:607678	EGR2	1959	HP:0002460	Distal muscle weakness
OMIM:607678	EGR2	1959	HP:0003621	Juvenile onset
OMIM:607678	EGR2	1959	HP:0003693	Distal amyotrophy
OMIM:607678	EGR2	1959	HP:0003376	Steppage gait
ORPHANET:71493	MPL	4352	HP:0001872	Abnormality of thrombocytes
ORPHANET:71493	MPL	4352	HP:0003401	Paresthesia
ORPHANET:71493	MPL	4352	HP:0002076	Migraine
ORPHANET:71493	MPL	4352	HP:0002167	Neurological speech impairment
ORPHANET:71493	MPL	4352	HP:0002488	Acute leukemia
ORPHANET:71493	MPL	4352	HP:0001123	Visual field defect
ORPHANET:71493	MPL	4352	HP:0001744	Splenomegaly
ORPHANET:71493	MPL	4352	HP:0001928	Abnormality of coagulation
ORPHANET:71493	MPL	4352	HP:0002863	Myelodysplasia
ORPHANET:71493	MPL	4352	HP:0000975	Hyperhidrosis
ORPHANET:71493	MPL	4352	HP:0004418	Thrombophlebitis
ORPHANET:71493	MPL	4352	HP:0100749	Chest pain
ORPHANET:71493	MPL	4352	HP:0001250	Seizures
ORPHANET:71493	MPL	4352	HP:0002321	Vertigo
ORPHANET:71493	MPL	4352	HP:0002637	Cerebral ischemia
ORPHANET:71493	MPL	4352	HP:0004420	Arterial thrombosis
ORPHANET:71493	MPL	4352	HP:0000989	Pruritus
ORPHANET:71493	MPL	4352	HP:0001824	Weight loss
ORPHANET:71493	JAK2	3717	HP:0001872	Abnormality of thrombocytes
ORPHANET:71493	JAK2	3717	HP:0003401	Paresthesia
ORPHANET:71493	JAK2	3717	HP:0002076	Migraine
ORPHANET:71493	JAK2	3717	HP:0002167	Neurological speech impairment
ORPHANET:71493	JAK2	3717	HP:0002488	Acute leukemia
ORPHANET:71493	JAK2	3717	HP:0001123	Visual field defect
ORPHANET:71493	JAK2	3717	HP:0001744	Splenomegaly
ORPHANET:71493	JAK2	3717	HP:0001928	Abnormality of coagulation
ORPHANET:71493	JAK2	3717	HP:0002863	Myelodysplasia
ORPHANET:71493	JAK2	3717	HP:0000975	Hyperhidrosis
ORPHANET:71493	JAK2	3717	HP:0004418	Thrombophlebitis
ORPHANET:71493	JAK2	3717	HP:0100749	Chest pain
ORPHANET:71493	JAK2	3717	HP:0001250	Seizures
ORPHANET:71493	JAK2	3717	HP:0002321	Vertigo
ORPHANET:71493	JAK2	3717	HP:0002637	Cerebral ischemia
ORPHANET:71493	JAK2	3717	HP:0004420	Arterial thrombosis
ORPHANET:71493	JAK2	3717	HP:0000989	Pruritus
ORPHANET:71493	JAK2	3717	HP:0001824	Weight loss
ORPHANET:71493	THPO	7066	HP:0001872	Abnormality of thrombocytes
ORPHANET:71493	THPO	7066	HP:0003401	Paresthesia
ORPHANET:71493	THPO	7066	HP:0002076	Migraine
ORPHANET:71493	THPO	7066	HP:0002167	Neurological speech impairment
ORPHANET:71493	THPO	7066	HP:0002488	Acute leukemia
ORPHANET:71493	THPO	7066	HP:0001123	Visual field defect
ORPHANET:71493	THPO	7066	HP:0001744	Splenomegaly
ORPHANET:71493	THPO	7066	HP:0001928	Abnormality of coagulation
ORPHANET:71493	THPO	7066	HP:0002863	Myelodysplasia
ORPHANET:71493	THPO	7066	HP:0000975	Hyperhidrosis
ORPHANET:71493	THPO	7066	HP:0004418	Thrombophlebitis
ORPHANET:71493	THPO	7066	HP:0100749	Chest pain
ORPHANET:71493	THPO	7066	HP:0001250	Seizures
ORPHANET:71493	THPO	7066	HP:0002321	Vertigo
ORPHANET:71493	THPO	7066	HP:0002637	Cerebral ischemia
ORPHANET:71493	THPO	7066	HP:0004420	Arterial thrombosis
ORPHANET:71493	THPO	7066	HP:0000989	Pruritus
ORPHANET:71493	THPO	7066	HP:0001824	Weight loss
OMIM:606069	SLC40A1	30061	HP:0007440	Generalized hyperpigmentation
OMIM:606069	SLC40A1	30061	HP:0001394	Cirrhosis
OMIM:606069	SLC40A1	30061	HP:0001397	Hepatic steatosis
OMIM:606069	SLC40A1	30061	HP:0011031	Abnormality of iron homeostasis
OMIM:606069	SLC40A1	30061	HP:0001376	Limitation of joint mobility
OMIM:606069	SLC40A1	30061	HP:0002027	Abdominal pain
OMIM:606069	SLC40A1	30061	HP:0002829	Arthralgia
ORPHANET:95720	SLC26A4	5172	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95720	SLC26A4	5172	HP:0001392	Abnormality of the liver
ORPHANET:95720	SLC26A4	5172	HP:0002019	Constipation
ORPHANET:95720	SLC26A4	5172	HP:0001252	Muscular hypotonia
ORPHANET:95720	SLC26A4	5172	HP:0000280	Coarse facial features
ORPHANET:95720	SLC26A4	5172	HP:0000821	Hypothyroidism
ORPHANET:95720	SLC26A4	5172	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95720	SLC26A4	5172	HP:0000157	Abnormality of the tongue
ORPHANET:95720	SLC26A4	5172	HP:0100543	Cognitive impairment
ORPHANET:95720	SLC26A4	5172	HP:0004322	Short stature
ORPHANET:95720	TSHR	7253	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95720	TSHR	7253	HP:0001392	Abnormality of the liver
ORPHANET:95720	TSHR	7253	HP:0002019	Constipation
ORPHANET:95720	TSHR	7253	HP:0001252	Muscular hypotonia
ORPHANET:95720	TSHR	7253	HP:0000280	Coarse facial features
ORPHANET:95720	TSHR	7253	HP:0000821	Hypothyroidism
ORPHANET:95720	TSHR	7253	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95720	TSHR	7253	HP:0000157	Abnormality of the tongue
ORPHANET:95720	TSHR	7253	HP:0100543	Cognitive impairment
ORPHANET:95720	TSHR	7253	HP:0004322	Short stature
ORPHANET:95720	PAX8	7849	HP:0000235	Abnormality of the fontanelles or cranial sutures
ORPHANET:95720	PAX8	7849	HP:0001392	Abnormality of the liver
ORPHANET:95720	PAX8	7849	HP:0002019	Constipation
ORPHANET:95720	PAX8	7849	HP:0001252	Muscular hypotonia
ORPHANET:95720	PAX8	7849	HP:0000280	Coarse facial features
ORPHANET:95720	PAX8	7849	HP:0000821	Hypothyroidism
ORPHANET:95720	PAX8	7849	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHANET:95720	PAX8	7849	HP:0000157	Abnormality of the tongue
ORPHANET:95720	PAX8	7849	HP:0100543	Cognitive impairment
ORPHANET:95720	PAX8	7849	HP:0004322	Short stature
OMIM:614885	PEX19	5824	HP:0000364	Hearing abnormality
OMIM:614885	PEX19	5824	HP:0011947	Respiratory tract infection
OMIM:614885	PEX19	5824	HP:0011968	Feeding difficulties
OMIM:614885	PEX19	5824	HP:0000572	Visual loss
OMIM:614885	PEX19	5824	HP:0001324	Muscle weakness
OMIM:614885	PEX16	9409	HP:0000364	Hearing abnormality
OMIM:614885	PEX16	9409	HP:0011947	Respiratory tract infection
OMIM:614885	PEX16	9409	HP:0011968	Feeding difficulties
OMIM:614885	PEX16	9409	HP:0000572	Visual loss
OMIM:614885	PEX16	9409	HP:0001324	Muscle weakness
OMIM:614885	PEX2	5828	HP:0000364	Hearing abnormality
OMIM:614885	PEX2	5828	HP:0011947	Respiratory tract infection
OMIM:614885	PEX2	5828	HP:0011968	Feeding difficulties
OMIM:614885	PEX2	5828	HP:0000572	Visual loss
OMIM:614885	PEX2	5828	HP:0001324	Muscle weakness
OMIM:614885	PEX1	5189	HP:0000364	Hearing abnormality
OMIM:614885	PEX1	5189	HP:0011947	Respiratory tract infection
OMIM:614885	PEX1	5189	HP:0011968	Feeding difficulties
OMIM:614885	PEX1	5189	HP:0000572	Visual loss
OMIM:614885	PEX1	5189	HP:0001324	Muscle weakness
OMIM:614885	PEX5	5830	HP:0000364	Hearing abnormality
OMIM:614885	PEX5	5830	HP:0011947	Respiratory tract infection
OMIM:614885	PEX5	5830	HP:0011968	Feeding difficulties
OMIM:614885	PEX5	5830	HP:0000572	Visual loss
OMIM:614885	PEX5	5830	HP:0001324	Muscle weakness
OMIM:614885	PEX6	5190	HP:0000364	Hearing abnormality
OMIM:614885	PEX6	5190	HP:0011947	Respiratory tract infection
OMIM:614885	PEX6	5190	HP:0011968	Feeding difficulties
OMIM:614885	PEX6	5190	HP:0000572	Visual loss
OMIM:614885	PEX6	5190	HP:0001324	Muscle weakness
OMIM:614885	PEX10	5192	HP:0000364	Hearing abnormality
OMIM:614885	PEX10	5192	HP:0011947	Respiratory tract infection
OMIM:614885	PEX10	5192	HP:0011968	Feeding difficulties
OMIM:614885	PEX10	5192	HP:0000572	Visual loss
OMIM:614885	PEX10	5192	HP:0001324	Muscle weakness
OMIM:614885	PEX12	5193	HP:0000364	Hearing abnormality
OMIM:614885	PEX12	5193	HP:0011947	Respiratory tract infection
OMIM:614885	PEX12	5193	HP:0011968	Feeding difficulties
OMIM:614885	PEX12	5193	HP:0000572	Visual loss
OMIM:614885	PEX12	5193	HP:0001324	Muscle weakness
OMIM:614885	PEX13	5194	HP:0000364	Hearing abnormality
OMIM:614885	PEX13	5194	HP:0011947	Respiratory tract infection
OMIM:614885	PEX13	5194	HP:0011968	Feeding difficulties
OMIM:614885	PEX13	5194	HP:0000572	Visual loss
OMIM:614885	PEX13	5194	HP:0001324	Muscle weakness
OMIM:614885	PEX14	5195	HP:0000364	Hearing abnormality
OMIM:614885	PEX14	5195	HP:0011947	Respiratory tract infection
OMIM:614885	PEX14	5195	HP:0011968	Feeding difficulties
OMIM:614885	PEX14	5195	HP:0000572	Visual loss
OMIM:614885	PEX14	5195	HP:0001324	Muscle weakness
OMIM:614885	PEX26	55670	HP:0000364	Hearing abnormality
OMIM:614885	PEX26	55670	HP:0011947	Respiratory tract infection
OMIM:614885	PEX26	55670	HP:0011968	Feeding difficulties
OMIM:614885	PEX26	55670	HP:0000572	Visual loss
OMIM:614885	PEX26	55670	HP:0001324	Muscle weakness
OMIM:614885	PEX3	8504	HP:0000364	Hearing abnormality
OMIM:614885	PEX3	8504	HP:0011947	Respiratory tract infection
OMIM:614885	PEX3	8504	HP:0011968	Feeding difficulties
OMIM:614885	PEX3	8504	HP:0000572	Visual loss
OMIM:614885	PEX3	8504	HP:0001324	Muscle weakness
OMIM:614885	PEX11B	8799	HP:0000364	Hearing abnormality
OMIM:614885	PEX11B	8799	HP:0011947	Respiratory tract infection
OMIM:614885	PEX11B	8799	HP:0011968	Feeding difficulties
OMIM:614885	PEX11B	8799	HP:0000572	Visual loss
OMIM:614885	PEX11B	8799	HP:0001324	Muscle weakness
OMIM:300323	HPRT1	3251	HP:0001419	X-linked recessive inheritance
OMIM:300323	HPRT1	3251	HP:0000787	Nephrolithiasis
OMIM:300323	HPRT1	3251	HP:0000083	Renal insufficiency
OMIM:613287	AARS	16	HP:0001765	Hammertoe
OMIM:613287	AARS	16	HP:0003477	Peripheral axonal neuropathy
OMIM:613287	AARS	16	HP:0003828	Variable expressivity
OMIM:613287	AARS	16	HP:0003431	Decreased motor nerve conduction velocity
OMIM:613287	AARS	16	HP:0002460	Distal muscle weakness
OMIM:613287	AARS	16	HP:0002936	Distal sensory impairment
OMIM:613287	AARS	16	HP:0001761	Pes cavus
OMIM:613287	AARS	16	HP:0003202	Skeletal muscle atrophy
OMIM:613287	AARS	16	HP:0009027	Foot dorsiflexor weakness
OMIM:613287	AARS	16	HP:0000006	Autosomal dominant inheritance
OMIM:613287	AARS	16	HP:0001284	Areflexia
OMIM:615395	MRPL44	65080	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615395	MRPL44	65080	HP:0003593	Infantile onset
OMIM:615395	MRPL44	65080	HP:0003828	Variable expressivity
OMIM:615395	MRPL44	65080	HP:0002910	Elevated hepatic transaminases
OMIM:615395	MRPL44	65080	HP:0002151	Increased serum lactate
OMIM:615395	MRPL44	65080	HP:0000007	Autosomal recessive inheritance
OMIM:130050	COL3A1	1281	HP:0004372	Reduced consciousness/confusion
OMIM:130050	COL3A1	1281	HP:0000387	Absent earlobe
OMIM:130050	COL3A1	1281	HP:0000028	Cryptorchidism
OMIM:130050	COL3A1	1281	HP:0000368	Low-set, posteriorly rotated ears
OMIM:130050	COL3A1	1281	HP:0100627	Displacement of the external urethral meatus
OMIM:130050	COL3A1	1281	HP:0000670	Carious teeth
OMIM:130050	COL3A1	1281	HP:0000508	Ptosis
OMIM:130050	COL3A1	1281	HP:0001633	Abnormality of the mitral valve
OMIM:130050	COL3A1	1281	HP:0000286	Epicanthus
OMIM:130050	COL3A1	1281	HP:0002242	Abnormality of the intestine
OMIM:130050	COL3A1	1281	HP:0000490	Deeply set eye
OMIM:130050	COL3A1	1281	HP:0000499	Abnormality of the eyelashes
OMIM:130050	COL3A1	1281	HP:0002321	Vertigo
OMIM:130050	COL3A1	1281	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:130050	COL3A1	1281	HP:0002637	Cerebral ischemia
OMIM:130050	COL3A1	1281	HP:0000230	Gingivitis
OMIM:130050	COL3A1	1281	HP:0000506	Telecanthus
OMIM:130050	COL3A1	1281	HP:0000963	Thin skin
OMIM:130050	COL3A1	1281	HP:0003272	Abnormality of the hip bone
OMIM:130050	COL3A1	1281	HP:0000233	Thin vermilion border
OMIM:130050	COL3A1	1281	HP:0002617	Aneurysm
OMIM:130050	COL3A1	1281	HP:0001762	Talipes equinovarus
OMIM:130050	COL3A1	1281	HP:0000520	Proptosis
OMIM:130050	COL3A1	1281	HP:0000272	Malar flattening
OMIM:130050	COL3A1	1281	HP:0001371	Flexion contracture
OMIM:130050	COL3A1	1281	HP:0002076	Migraine
OMIM:130050	COL3A1	1281	HP:0002104	Apnea
OMIM:130050	COL3A1	1281	HP:0002758	Osteoarthritis
OMIM:130050	COL3A1	1281	HP:0100817	Renovascular hypertension
OMIM:130050	COL3A1	1281	HP:0000316	Hypertelorism
OMIM:130050	COL3A1	1281	HP:0100543	Cognitive impairment
OMIM:130050	COL3A1	1281	HP:0001382	Joint hypermobility
OMIM:130050	COL3A1	1281	HP:0005111	Dilatation of the ascending aorta
OMIM:130050	COL3A1	1281	HP:0007495	Prematurely aged appearance
OMIM:130050	COL3A1	1281	HP:0001537	Umbilical hernia
OMIM:130050	COL3A1	1281	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:130050	COL3A1	1281	HP:0000501	Glaucoma
OMIM:130050	COL3A1	1281	HP:0000446	Narrow nasal bridge
OMIM:130050	COL3A1	1281	HP:0000973	Cutis laxa
OMIM:130050	COL3A1	1281	HP:0001634	Mitral valve prolapse
OMIM:130050	COL3A1	1281	HP:0005293	Venous insufficiency
OMIM:130050	COL3A1	1281	HP:0000615	Abnormality of the pupil
OMIM:130050	COL3A1	1281	HP:0002797	Osteolysis
OMIM:130050	COL3A1	1281	HP:0100689	Decreased corneal thickness
OMIM:130050	COL3A1	1281	HP:0000767	Pectus excavatum
OMIM:130050	COL3A1	1281	HP:0000790	Hematuria
OMIM:130050	COL3A1	1281	HP:0010719	Abnormality of hair texture
OMIM:130050	COL3A1	1281	HP:0001063	Acrocyanosis
OMIM:130050	COL3A1	1281	HP:0001622	Premature birth
OMIM:130050	COL3A1	1281	HP:0001373	Joint dislocation
OMIM:130050	COL3A1	1281	HP:0000978	Bruising susceptibility
OMIM:130050	COL3A1	1281	HP:0000592	Blue sclerae
OMIM:130050	COL3A1	1281	HP:0000563	Keratoconus
OMIM:130050	COL3A1	1281	HP:0000912	Sprengel anomaly
OMIM:130050	COL3A1	1281	HP:0000995	Melanocytic nevus
OMIM:130050	COL3A1	1281	HP:0000987	Atypical scarring of skin
OMIM:130050	COL3A1	1281	HP:0004414	Abnormality of the pulmonary artery
OMIM:130050	COL3A1	1281	HP:0000006	Autosomal dominant inheritance
OMIM:130050	COL3A1	1281	HP:0004322	Short stature
OMIM:130050	COL3A1	1281	HP:0001034	Hypermelanotic macule
OMIM:130050	COL3A1	1281	HP:0100585	Telangiectasia of the skin
OMIM:130050	COL3A1	1281	HP:0001596	Alopecia
OMIM:130050	COL3A1	1281	HP:0000212	Gingival overgrowth
OMIM:130050	COL3A1	1281	HP:0000174	Abnormality of the palate
OMIM:130050	COL3A1	1281	HP:0001883	Talipes
OMIM:130050	COL3A1	1281	HP:0002093	Respiratory insufficiency
OMIM:130050	COL3A1	1281	HP:0000691	Microdontia
OMIM:130050	COL3A1	1281	HP:0000023	Inguinal hernia
OMIM:130050	COL3A1	1281	HP:0001842	Acroosteolysis (feet)
OMIM:130050	COL3A1	1281	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:130050	COL3A1	1281	HP:0000704	Periodontitis
OMIM:130050	COL3A1	1281	HP:0001030	Fragile skin
OMIM:130050	COL3A1	1281	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:130050	COL3A1	1281	HP:0001928	Abnormality of coagulation
OMIM:130050	COL3A1	1281	HP:0000079	Abnormality of the urinary system
OMIM:130050	COL3A1	1281	HP:0000015	Bladder diverticulum
OMIM:130050	COL5A1	1289	HP:0004372	Reduced consciousness/confusion
OMIM:130050	COL5A1	1289	HP:0000387	Absent earlobe
OMIM:130050	COL5A1	1289	HP:0000028	Cryptorchidism
OMIM:130050	COL5A1	1289	HP:0000368	Low-set, posteriorly rotated ears
OMIM:130050	COL5A1	1289	HP:0100627	Displacement of the external urethral meatus
OMIM:130050	COL5A1	1289	HP:0000670	Carious teeth
OMIM:130050	COL5A1	1289	HP:0000508	Ptosis
OMIM:130050	COL5A1	1289	HP:0001633	Abnormality of the mitral valve
OMIM:130050	COL5A1	1289	HP:0000286	Epicanthus
OMIM:130050	COL5A1	1289	HP:0002242	Abnormality of the intestine
OMIM:130050	COL5A1	1289	HP:0000490	Deeply set eye
OMIM:130050	COL5A1	1289	HP:0000499	Abnormality of the eyelashes
OMIM:130050	COL5A1	1289	HP:0002321	Vertigo
OMIM:130050	COL5A1	1289	HP:0009771	Osteolytic defects of the phalanges of the hand
OMIM:130050	COL5A1	1289	HP:0002637	Cerebral ischemia
OMIM:130050	COL5A1	1289	HP:0000230	Gingivitis
OMIM:130050	COL5A1	1289	HP:0000506	Telecanthus
OMIM:130050	COL5A1	1289	HP:0000963	Thin skin
OMIM:130050	COL5A1	1289	HP:0003272	Abnormality of the hip bone
OMIM:130050	COL5A1	1289	HP:0000233	Thin vermilion border
OMIM:130050	COL5A1	1289	HP:0002617	Aneurysm
OMIM:130050	COL5A1	1289	HP:0001762	Talipes equinovarus
OMIM:130050	COL5A1	1289	HP:0000520	Proptosis
OMIM:130050	COL5A1	1289	HP:0000272	Malar flattening
OMIM:130050	COL5A1	1289	HP:0001371	Flexion contracture
OMIM:130050	COL5A1	1289	HP:0002076	Migraine
OMIM:130050	COL5A1	1289	HP:0002104	Apnea
OMIM:130050	COL5A1	1289	HP:0002758	Osteoarthritis
OMIM:130050	COL5A1	1289	HP:0100817	Renovascular hypertension
OMIM:130050	COL5A1	1289	HP:0000316	Hypertelorism
OMIM:130050	COL5A1	1289	HP:0100543	Cognitive impairment
OMIM:130050	COL5A1	1289	HP:0001382	Joint hypermobility
OMIM:130050	COL5A1	1289	HP:0005111	Dilatation of the ascending aorta
OMIM:130050	COL5A1	1289	HP:0007495	Prematurely aged appearance
OMIM:130050	COL5A1	1289	HP:0001537	Umbilical hernia
OMIM:130050	COL5A1	1289	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:130050	COL5A1	1289	HP:0000501	Glaucoma
OMIM:130050	COL5A1	1289	HP:0000446	Narrow nasal bridge
OMIM:130050	COL5A1	1289	HP:0000973	Cutis laxa
OMIM:130050	COL5A1	1289	HP:0001634	Mitral valve prolapse
OMIM:130050	COL5A1	1289	HP:0005293	Venous insufficiency
OMIM:130050	COL5A1	1289	HP:0000615	Abnormality of the pupil
OMIM:130050	COL5A1	1289	HP:0002797	Osteolysis
OMIM:130050	COL5A1	1289	HP:0100689	Decreased corneal thickness
OMIM:130050	COL5A1	1289	HP:0000767	Pectus excavatum
OMIM:130050	COL5A1	1289	HP:0000790	Hematuria
OMIM:130050	COL5A1	1289	HP:0010719	Abnormality of hair texture
OMIM:130050	COL5A1	1289	HP:0001063	Acrocyanosis
OMIM:130050	COL5A1	1289	HP:0001622	Premature birth
OMIM:130050	COL5A1	1289	HP:0001373	Joint dislocation
OMIM:130050	COL5A1	1289	HP:0000978	Bruising susceptibility
OMIM:130050	COL5A1	1289	HP:0000592	Blue sclerae
OMIM:130050	COL5A1	1289	HP:0000563	Keratoconus
OMIM:130050	COL5A1	1289	HP:0000912	Sprengel anomaly
OMIM:130050	COL5A1	1289	HP:0000995	Melanocytic nevus
OMIM:130050	COL5A1	1289	HP:0000987	Atypical scarring of skin
OMIM:130050	COL5A1	1289	HP:0004414	Abnormality of the pulmonary artery
OMIM:130050	COL5A1	1289	HP:0000006	Autosomal dominant inheritance
OMIM:130050	COL5A1	1289	HP:0004322	Short stature
OMIM:130050	COL5A1	1289	HP:0001034	Hypermelanotic macule
OMIM:130050	COL5A1	1289	HP:0100585	Telangiectasia of the skin
OMIM:130050	COL5A1	1289	HP:0001596	Alopecia
OMIM:130050	COL5A1	1289	HP:0000212	Gingival overgrowth
OMIM:130050	COL5A1	1289	HP:0000174	Abnormality of the palate
OMIM:130050	COL5A1	1289	HP:0001883	Talipes
OMIM:130050	COL5A1	1289	HP:0002093	Respiratory insufficiency
OMIM:130050	COL5A1	1289	HP:0000691	Microdontia
OMIM:130050	COL5A1	1289	HP:0000023	Inguinal hernia
OMIM:130050	COL5A1	1289	HP:0001842	Acroosteolysis (feet)
OMIM:130050	COL5A1	1289	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:130050	COL5A1	1289	HP:0000704	Periodontitis
OMIM:130050	COL5A1	1289	HP:0001030	Fragile skin
OMIM:130050	COL5A1	1289	HP:0009906	Aplasia/Hypoplasia of the earlobes
OMIM:130050	COL5A1	1289	HP:0001928	Abnormality of coagulation
OMIM:130050	COL5A1	1289	HP:0000079	Abnormality of the urinary system
OMIM:130050	COL5A1	1289	HP:0000015	Bladder diverticulum
OMIM:598500	CISD2	493856	HP:0000819	Diabetes mellitus
OMIM:598500	CISD2	493856	HP:0001249	Intellectual disability
OMIM:598500	CISD2	493856	HP:0001889	Megaloblastic anemia
OMIM:598500	CISD2	493856	HP:0000126	Hydronephrosis
OMIM:598500	CISD2	493856	HP:0001875	Neutropenia
OMIM:598500	CISD2	493856	HP:0000407	Sensorineural hearing impairment
OMIM:598500	CISD2	493856	HP:0000924	Abnormality of the skeletal system
OMIM:598500	CISD2	493856	HP:0000639	Nystagmus
OMIM:598500	CISD2	493856	HP:0000072	Hydroureter
OMIM:598500	CISD2	493856	HP:0000873	Diabetes insipidus
OMIM:598500	CISD2	493856	HP:0001873	Thrombocytopenia
OMIM:598500	CISD2	493856	HP:0000648	Optic atrophy
OMIM:598500	CISD2	493856	HP:0001250	Seizures
OMIM:598500	CISD2	493856	HP:0000618	Blindness
OMIM:598500	WFS1	7466	HP:0000819	Diabetes mellitus
OMIM:598500	WFS1	7466	HP:0001249	Intellectual disability
OMIM:598500	WFS1	7466	HP:0001889	Megaloblastic anemia
OMIM:598500	WFS1	7466	HP:0000126	Hydronephrosis
OMIM:598500	WFS1	7466	HP:0001875	Neutropenia
OMIM:598500	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:598500	WFS1	7466	HP:0000924	Abnormality of the skeletal system
OMIM:598500	WFS1	7466	HP:0000639	Nystagmus
OMIM:598500	WFS1	7466	HP:0000072	Hydroureter
OMIM:598500	WFS1	7466	HP:0000873	Diabetes insipidus
OMIM:598500	WFS1	7466	HP:0001873	Thrombocytopenia
OMIM:598500	WFS1	7466	HP:0000648	Optic atrophy
OMIM:598500	WFS1	7466	HP:0001250	Seizures
OMIM:598500	WFS1	7466	HP:0000618	Blindness
OMIM:611560	NPHP1	4867	HP:0000639	Nystagmus
OMIM:611560	NPHP1	4867	HP:0002084	Encephalocele
OMIM:611560	NPHP1	4867	HP:0002419	Molar tooth sign on MRI
OMIM:611560	NPHP1	4867	HP:0001249	Intellectual disability
OMIM:611560	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:611560	NPHP1	4867	HP:0000657	Oculomotor apraxia
OMIM:611560	NPHP1	4867	HP:0001251	Ataxia
OMIM:611560	NPHP1	4867	HP:0100259	Postaxial polydactyly
OMIM:611560	NPHP1	4867	HP:0000508	Ptosis
OMIM:611560	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:611560	TMEM237	65062	HP:0000639	Nystagmus
OMIM:611560	TMEM237	65062	HP:0002084	Encephalocele
OMIM:611560	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:611560	TMEM237	65062	HP:0001249	Intellectual disability
OMIM:611560	TMEM237	65062	HP:0000090	Nephronophthisis
OMIM:611560	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:611560	TMEM237	65062	HP:0001251	Ataxia
OMIM:611560	TMEM237	65062	HP:0100259	Postaxial polydactyly
OMIM:611560	TMEM237	65062	HP:0000508	Ptosis
OMIM:611560	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:611560	RPGRIP1L	23322	HP:0000639	Nystagmus
OMIM:611560	RPGRIP1L	23322	HP:0002084	Encephalocele
OMIM:611560	RPGRIP1L	23322	HP:0002419	Molar tooth sign on MRI
OMIM:611560	RPGRIP1L	23322	HP:0001249	Intellectual disability
OMIM:611560	RPGRIP1L	23322	HP:0000090	Nephronophthisis
OMIM:611560	RPGRIP1L	23322	HP:0000657	Oculomotor apraxia
OMIM:611560	RPGRIP1L	23322	HP:0001251	Ataxia
OMIM:611560	RPGRIP1L	23322	HP:0100259	Postaxial polydactyly
OMIM:611560	RPGRIP1L	23322	HP:0000508	Ptosis
OMIM:611560	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:613916	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:613916	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:613916	BSND	7809	HP:0000365	Hearing impairment
OMIM:613916	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:613916	ESPN	83715	HP:0000365	Hearing impairment
OMIM:613916	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:613916	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:613916	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:613916	OTOA	146183	HP:0000365	Hearing impairment
OMIM:613916	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:613916	GJA1	2697	HP:0000365	Hearing impairment
OMIM:613916	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:613916	MET	4233	HP:0000365	Hearing impairment
OMIM:613916	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:613916	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:613916	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:613916	HGF	3082	HP:0000365	Hearing impairment
OMIM:613916	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:613916	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:613916	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:613916	EPS8	2059	HP:0000365	Hearing impairment
OMIM:613916	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:613916	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:613916	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:613916	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:613916	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:613916	GJB2	2706	HP:0000365	Hearing impairment
OMIM:613916	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:613916	GJB3	2707	HP:0000365	Hearing impairment
OMIM:613916	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:613916	CABP2	51475	HP:0000365	Hearing impairment
OMIM:613916	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:613916	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:613916	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:613916	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:613916	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:613916	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:613916	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:613916	CIB2	10518	HP:0000365	Hearing impairment
OMIM:613916	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613916	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:613916	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:613916	KARS	3735	HP:0000365	Hearing impairment
OMIM:613916	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:613916	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:613916	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:613916	TMC1	117531	HP:0000365	Hearing impairment
OMIM:613916	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:613916	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:613916	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:613916	OTOF	9381	HP:0000365	Hearing impairment
OMIM:613916	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:613916	MYO6	4646	HP:0000365	Hearing impairment
OMIM:613916	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:613916	TMIE	259236	HP:0000365	Hearing impairment
OMIM:613916	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:613916	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:613916	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:613916	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:613916	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:613916	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:613916	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:613916	TPRN	286262	HP:0000365	Hearing impairment
OMIM:613916	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:613916	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:613916	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:613916	GJB6	10804	HP:0000365	Hearing impairment
OMIM:613916	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:613916	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:613916	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:613916	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:613916	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:613916	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:613916	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:613916	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:613916	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:613916	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:613916	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613916	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:613916	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:613916	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:613916	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:613916	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:613916	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:613916	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:613916	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:613916	CDH23	64072	HP:0000365	Hearing impairment
OMIM:613916	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:613916	RDX	5962	HP:0000365	Hearing impairment
OMIM:613916	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:613916	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:613916	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:613916	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:613916	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:613916	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:613916	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:613916	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:613916	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:613916	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:613916	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:613916	STRC	161497	HP:0000365	Hearing impairment
OMIM:613916	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:613916	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:613916	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:613916	TECTA	7007	HP:0000365	Hearing impairment
OMIM:613916	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:613916	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:613916	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:613916	USH1C	10083	HP:0000365	Hearing impairment
OMIM:613916	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:613916	ADCY1	107	HP:0000365	Hearing impairment
OMIM:613916	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:613916	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:613916	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:613916	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:613916	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:613916	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:613916	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:613916	OTOG	340990	HP:0000365	Hearing impairment
OMIM:613916	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:115665	CRYBA2	1412	HP:0000529	Progressive visual loss
OMIM:115665	CRYBA2	1412	HP:0100018	Nuclear cataract
OMIM:115665	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:115665	CRYBA2	1412	HP:0000519	Congenital cataract
OMIM:115665	AGK	55750	HP:0000529	Progressive visual loss
OMIM:115665	AGK	55750	HP:0100018	Nuclear cataract
OMIM:115665	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:115665	AGK	55750	HP:0000519	Congenital cataract
OMIM:115665	GCNT2	2651	HP:0000529	Progressive visual loss
OMIM:115665	GCNT2	2651	HP:0100018	Nuclear cataract
OMIM:115665	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:115665	GCNT2	2651	HP:0000519	Congenital cataract
OMIM:125490	DSPP	1834	HP:0000006	Autosomal dominant inheritance
OMIM:615346	MKRN3	7681	HP:0005616	Accelerated skeletal maturation
OMIM:615346	MKRN3	7681	HP:0000006	Autosomal dominant inheritance
OMIM:615346	MKRN3	7681	HP:0010314	Premature thelarche
OMIM:175200	STK11	6794	HP:0000153	Abnormality of the mouth
OMIM:175200	STK11	6794	HP:0100273	Neoplasm of the colon
OMIM:175200	STK11	6794	HP:0002017	Nausea and vomiting
OMIM:175200	STK11	6794	HP:0100751	Esophageal neoplasm
OMIM:175200	STK11	6794	HP:0005214	Intestinal obstruction
OMIM:175200	STK11	6794	HP:0100013	Neoplasm of the breast
OMIM:175200	STK11	6794	HP:0100526	Neoplasm of the lung
OMIM:175200	STK11	6794	HP:0009726	Renal neoplasm
OMIM:175200	STK11	6794	HP:0002894	Neoplasm of the pancreas
OMIM:175200	STK11	6794	HP:0001080	Biliary tract abnormality
OMIM:175200	STK11	6794	HP:0002035	Rectal prolapse
OMIM:175200	STK11	6794	HP:0100615	Ovarian neoplasm
OMIM:175200	STK11	6794	HP:0000069	Abnormality of the ureter
OMIM:175200	STK11	6794	HP:0100833	Neoplasm of the small intestine
OMIM:175200	STK11	6794	HP:0002027	Abdominal pain
OMIM:175200	STK11	6794	HP:0000138	Ovarian cyst
OMIM:175200	STK11	6794	HP:0006753	Neoplasm of the stomach
OMIM:175200	STK11	6794	HP:0000995	Melanocytic nevus
OMIM:175200	STK11	6794	HP:0001034	Hypermelanotic macule
OMIM:175200	STK11	6794	HP:0002239	Gastrointestinal hemorrhage
OMIM:175200	STK11	6794	HP:0003002	Breast carcinoma
OMIM:175200	STK11	6794	HP:0100743	Neoplasm of the rectum
OMIM:175200	STK11	6794	HP:0200008	Intestinal polyposis
OMIM:175200	STK11	6794	HP:0002576	Intussusception
OMIM:175200	STK11	6794	HP:0000006	Autosomal dominant inheritance
OMIM:175200	STK11	6794	HP:0010788	Testicular neoplasm
OMIM:616629	WDR19	57728	HP:0001513	Obesity
OMIM:616629	WDR19	57728	HP:0001396	Cholestasis
OMIM:616629	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
OMIM:616629	WDR19	57728	HP:0000608	Macular degeneration
OMIM:616629	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:616629	WDR19	57728	HP:0000486	Strabismus
OMIM:616629	WDR19	57728	HP:0000639	Nystagmus
OMIM:616629	WDR19	57728	HP:0000135	Hypogonadism
OMIM:616629	WDR19	57728	HP:0010442	Polydactyly
OMIM:616629	WDR19	57728	HP:0001263	Global developmental delay
OMIM:616629	WDR19	57728	HP:0000510	Rod-cone dystrophy
OMIM:616629	WDR19	57728	HP:0001970	Tubulointerstitial nephritis
OMIM:616629	WDR19	57728	HP:0001395	Hepatic fibrosis
OMIM:616629	CEP164	22897	HP:0001513	Obesity
OMIM:616629	CEP164	22897	HP:0001396	Cholestasis
OMIM:616629	CEP164	22897	HP:0003774	Stage 5 chronic kidney disease
OMIM:616629	CEP164	22897	HP:0000608	Macular degeneration
OMIM:616629	CEP164	22897	HP:0000090	Nephronophthisis
OMIM:616629	CEP164	22897	HP:0000486	Strabismus
OMIM:616629	CEP164	22897	HP:0000639	Nystagmus
OMIM:616629	CEP164	22897	HP:0000135	Hypogonadism
OMIM:616629	CEP164	22897	HP:0010442	Polydactyly
OMIM:616629	CEP164	22897	HP:0001263	Global developmental delay
OMIM:616629	CEP164	22897	HP:0000510	Rod-cone dystrophy
OMIM:616629	CEP164	22897	HP:0001970	Tubulointerstitial nephritis
OMIM:616629	CEP164	22897	HP:0001395	Hepatic fibrosis
OMIM:616629	TRAF3IP1	26146	HP:0001513	Obesity
OMIM:616629	TRAF3IP1	26146	HP:0001396	Cholestasis
OMIM:616629	TRAF3IP1	26146	HP:0003774	Stage 5 chronic kidney disease
OMIM:616629	TRAF3IP1	26146	HP:0000608	Macular degeneration
OMIM:616629	TRAF3IP1	26146	HP:0000090	Nephronophthisis
OMIM:616629	TRAF3IP1	26146	HP:0000486	Strabismus
OMIM:616629	TRAF3IP1	26146	HP:0000639	Nystagmus
OMIM:616629	TRAF3IP1	26146	HP:0000135	Hypogonadism
OMIM:616629	TRAF3IP1	26146	HP:0010442	Polydactyly
OMIM:616629	TRAF3IP1	26146	HP:0001263	Global developmental delay
OMIM:616629	TRAF3IP1	26146	HP:0000510	Rod-cone dystrophy
OMIM:616629	TRAF3IP1	26146	HP:0001970	Tubulointerstitial nephritis
OMIM:616629	TRAF3IP1	26146	HP:0001395	Hepatic fibrosis
OMIM:616629	NPHP1	4867	HP:0001513	Obesity
OMIM:616629	NPHP1	4867	HP:0001396	Cholestasis
OMIM:616629	NPHP1	4867	HP:0003774	Stage 5 chronic kidney disease
OMIM:616629	NPHP1	4867	HP:0000608	Macular degeneration
OMIM:616629	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:616629	NPHP1	4867	HP:0000486	Strabismus
OMIM:616629	NPHP1	4867	HP:0000639	Nystagmus
OMIM:616629	NPHP1	4867	HP:0000135	Hypogonadism
OMIM:616629	NPHP1	4867	HP:0010442	Polydactyly
OMIM:616629	NPHP1	4867	HP:0001263	Global developmental delay
OMIM:616629	NPHP1	4867	HP:0000510	Rod-cone dystrophy
OMIM:616629	NPHP1	4867	HP:0001970	Tubulointerstitial nephritis
OMIM:616629	NPHP1	4867	HP:0001395	Hepatic fibrosis
OMIM:616629	NPHP4	261734	HP:0001513	Obesity
OMIM:616629	NPHP4	261734	HP:0001396	Cholestasis
OMIM:616629	NPHP4	261734	HP:0003774	Stage 5 chronic kidney disease
OMIM:616629	NPHP4	261734	HP:0000608	Macular degeneration
OMIM:616629	NPHP4	261734	HP:0000090	Nephronophthisis
OMIM:616629	NPHP4	261734	HP:0000486	Strabismus
OMIM:616629	NPHP4	261734	HP:0000639	Nystagmus
OMIM:616629	NPHP4	261734	HP:0000135	Hypogonadism
OMIM:616629	NPHP4	261734	HP:0010442	Polydactyly
OMIM:616629	NPHP4	261734	HP:0001263	Global developmental delay
OMIM:616629	NPHP4	261734	HP:0000510	Rod-cone dystrophy
OMIM:616629	NPHP4	261734	HP:0001970	Tubulointerstitial nephritis
OMIM:616629	NPHP4	261734	HP:0001395	Hepatic fibrosis
OMIM:616629	SDCCAG8	10806	HP:0001513	Obesity
OMIM:616629	SDCCAG8	10806	HP:0001396	Cholestasis
OMIM:616629	SDCCAG8	10806	HP:0003774	Stage 5 chronic kidney disease
OMIM:616629	SDCCAG8	10806	HP:0000608	Macular degeneration
OMIM:616629	SDCCAG8	10806	HP:0000090	Nephronophthisis
OMIM:616629	SDCCAG8	10806	HP:0000486	Strabismus
OMIM:616629	SDCCAG8	10806	HP:0000639	Nystagmus
OMIM:616629	SDCCAG8	10806	HP:0000135	Hypogonadism
OMIM:616629	SDCCAG8	10806	HP:0010442	Polydactyly
OMIM:616629	SDCCAG8	10806	HP:0001263	Global developmental delay
OMIM:616629	SDCCAG8	10806	HP:0000510	Rod-cone dystrophy
OMIM:616629	SDCCAG8	10806	HP:0001970	Tubulointerstitial nephritis
OMIM:616629	SDCCAG8	10806	HP:0001395	Hepatic fibrosis
OMIM:616629	NPHP3	27031	HP:0001513	Obesity
OMIM:616629	NPHP3	27031	HP:0001396	Cholestasis
OMIM:616629	NPHP3	27031	HP:0003774	Stage 5 chronic kidney disease
OMIM:616629	NPHP3	27031	HP:0000608	Macular degeneration
OMIM:616629	NPHP3	27031	HP:0000090	Nephronophthisis
OMIM:616629	NPHP3	27031	HP:0000486	Strabismus
OMIM:616629	NPHP3	27031	HP:0000639	Nystagmus
OMIM:616629	NPHP3	27031	HP:0000135	Hypogonadism
OMIM:616629	NPHP3	27031	HP:0010442	Polydactyly
OMIM:616629	NPHP3	27031	HP:0001263	Global developmental delay
OMIM:616629	NPHP3	27031	HP:0000510	Rod-cone dystrophy
OMIM:616629	NPHP3	27031	HP:0001970	Tubulointerstitial nephritis
OMIM:616629	NPHP3	27031	HP:0001395	Hepatic fibrosis
OMIM:616629	CEP290	80184	HP:0001513	Obesity
OMIM:616629	CEP290	80184	HP:0001396	Cholestasis
OMIM:616629	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
OMIM:616629	CEP290	80184	HP:0000608	Macular degeneration
OMIM:616629	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:616629	CEP290	80184	HP:0000486	Strabismus
OMIM:616629	CEP290	80184	HP:0000639	Nystagmus
OMIM:616629	CEP290	80184	HP:0000135	Hypogonadism
OMIM:616629	CEP290	80184	HP:0010442	Polydactyly
OMIM:616629	CEP290	80184	HP:0001263	Global developmental delay
OMIM:616629	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:616629	CEP290	80184	HP:0001970	Tubulointerstitial nephritis
OMIM:616629	CEP290	80184	HP:0001395	Hepatic fibrosis
OMIM:616629	IQCB1	9657	HP:0001513	Obesity
OMIM:616629	IQCB1	9657	HP:0001396	Cholestasis
OMIM:616629	IQCB1	9657	HP:0003774	Stage 5 chronic kidney disease
OMIM:616629	IQCB1	9657	HP:0000608	Macular degeneration
OMIM:616629	IQCB1	9657	HP:0000090	Nephronophthisis
OMIM:616629	IQCB1	9657	HP:0000486	Strabismus
OMIM:616629	IQCB1	9657	HP:0000639	Nystagmus
OMIM:616629	IQCB1	9657	HP:0000135	Hypogonadism
OMIM:616629	IQCB1	9657	HP:0010442	Polydactyly
OMIM:616629	IQCB1	9657	HP:0001263	Global developmental delay
OMIM:616629	IQCB1	9657	HP:0000510	Rod-cone dystrophy
OMIM:616629	IQCB1	9657	HP:0001970	Tubulointerstitial nephritis
OMIM:616629	IQCB1	9657	HP:0001395	Hepatic fibrosis
OMIM:616629	INVS	27130	HP:0001513	Obesity
OMIM:616629	INVS	27130	HP:0001396	Cholestasis
OMIM:616629	INVS	27130	HP:0003774	Stage 5 chronic kidney disease
OMIM:616629	INVS	27130	HP:0000608	Macular degeneration
OMIM:616629	INVS	27130	HP:0000090	Nephronophthisis
OMIM:616629	INVS	27130	HP:0000486	Strabismus
OMIM:616629	INVS	27130	HP:0000639	Nystagmus
OMIM:616629	INVS	27130	HP:0000135	Hypogonadism
OMIM:616629	INVS	27130	HP:0010442	Polydactyly
OMIM:616629	INVS	27130	HP:0001263	Global developmental delay
OMIM:616629	INVS	27130	HP:0000510	Rod-cone dystrophy
OMIM:616629	INVS	27130	HP:0001970	Tubulointerstitial nephritis
OMIM:616629	INVS	27130	HP:0001395	Hepatic fibrosis
OMIM:607398	STAR	6770	HP:0000953	Hyperpigmentation of the skin
OMIM:607398	STAR	6770	HP:0000007	Autosomal recessive inheritance
OMIM:607398	STAR	6770	HP:0001988	Recurrent hypoglycemia
OMIM:607398	STAR	6770	HP:0008163	Decreased circulating cortisol level
OMIM:607398	STAR	6770	HP:0003154	Increased circulating ACTH level
OMIM:607398	MRAP	56246	HP:0000953	Hyperpigmentation of the skin
OMIM:607398	MRAP	56246	HP:0000007	Autosomal recessive inheritance
OMIM:607398	MRAP	56246	HP:0001988	Recurrent hypoglycemia
OMIM:607398	MRAP	56246	HP:0008163	Decreased circulating cortisol level
OMIM:607398	MRAP	56246	HP:0003154	Increased circulating ACTH level
OMIM:607398	NNT	23530	HP:0000953	Hyperpigmentation of the skin
OMIM:607398	NNT	23530	HP:0000007	Autosomal recessive inheritance
OMIM:607398	NNT	23530	HP:0001988	Recurrent hypoglycemia
OMIM:607398	NNT	23530	HP:0008163	Decreased circulating cortisol level
OMIM:607398	NNT	23530	HP:0003154	Increased circulating ACTH level
OMIM:607398	TXNRD2	10587	HP:0000953	Hyperpigmentation of the skin
OMIM:607398	TXNRD2	10587	HP:0000007	Autosomal recessive inheritance
OMIM:607398	TXNRD2	10587	HP:0001988	Recurrent hypoglycemia
OMIM:607398	TXNRD2	10587	HP:0008163	Decreased circulating cortisol level
OMIM:607398	TXNRD2	10587	HP:0003154	Increased circulating ACTH level
OMIM:607398	MC2R	4158	HP:0000953	Hyperpigmentation of the skin
OMIM:607398	MC2R	4158	HP:0000007	Autosomal recessive inheritance
OMIM:607398	MC2R	4158	HP:0001988	Recurrent hypoglycemia
OMIM:607398	MC2R	4158	HP:0008163	Decreased circulating cortisol level
OMIM:607398	MC2R	4158	HP:0003154	Increased circulating ACTH level
OMIM:175050	SMAD4	4089	HP:0001217	Clubbing
OMIM:175050	SMAD4	4089	HP:0002573	Hematochezia
OMIM:175050	SMAD4	4089	HP:0001634	Mitral valve prolapse
OMIM:175050	SMAD4	4089	HP:0001009	Telangiectasia
OMIM:175050	SMAD4	4089	HP:0001653	Mitral regurgitation
OMIM:175050	SMAD4	4089	HP:0001903	Anemia
OMIM:175050	SMAD4	4089	HP:0001724	Aortic dilatation
OMIM:175050	SMAD4	4089	HP:0000421	Epistaxis
OMIM:175050	SMAD4	4089	HP:0000006	Autosomal dominant inheritance
OMIM:175050	SMAD4	4089	HP:0001297	Stroke
OMIM:184460	NOG	9241	HP:0000430	Underdeveloped nasal alae
OMIM:184460	NOG	9241	HP:0000540	Hypermetropia
OMIM:184460	NOG	9241	HP:0009882	Short distal phalanx of finger
OMIM:184460	NOG	9241	HP:0010055	Broad hallux
OMIM:184460	NOG	9241	HP:0000405	Conductive hearing impairment
OMIM:184460	NOG	9241	HP:0003189	Long nose
OMIM:184460	NOG	9241	HP:0011304	Broad thumb
OMIM:184460	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:184460	NOG	9241	HP:0001770	Toe syndactyly
OMIM:184460	NOG	9241	HP:0000381	Stapes ankylosis
OMIM:184460	NOG	9241	HP:0002949	Fused cervical vertebrae
OMIM:616202	BRF1	2972	HP:0004322	Short stature
OMIM:616202	BRF1	2972	HP:0000470	Short neck
OMIM:616202	BRF1	2972	HP:0001263	Global developmental delay
OMIM:616202	BRF1	2972	HP:0000535	Sparse eyebrow
OMIM:616202	BRF1	2972	HP:0002650	Scoliosis
OMIM:616202	BRF1	2972	HP:0001321	Cerebellar hypoplasia
OMIM:616202	BRF1	2972	HP:0012110	Hypoplasia of the pons
OMIM:616202	BRF1	2972	HP:0001182	Tapered finger
OMIM:616202	BRF1	2972	HP:0000369	Low-set ears
OMIM:616202	BRF1	2972	HP:0001601	Laryngomalacia
OMIM:616202	BRF1	2972	HP:0001249	Intellectual disability
OMIM:616202	BRF1	2972	HP:0000252	Microcephaly
OMIM:616202	BRF1	2972	HP:0000679	Taurodontia
OMIM:616202	BRF1	2972	HP:0003100	Slender long bone
OMIM:616202	BRF1	2972	HP:0000689	Dental malocclusion
OMIM:616202	BRF1	2972	HP:0008070	Sparse hair
OMIM:610644	RSPO1	284654	HP:0000982	Palmoplantar keratoderma
OMIM:612350	SLC39A13	91252	HP:0000938	Osteopenia
OMIM:612350	SLC39A13	91252	HP:0004349	Reduced bone mineral density
OMIM:612350	SLC39A13	91252	HP:0000974	Hyperextensible skin
OMIM:612350	SLC39A13	91252	HP:0009803	Short phalanx of finger
OMIM:612350	SLC39A13	91252	HP:0003301	Irregular vertebral endplates
OMIM:612350	SLC39A13	91252	HP:0001388	Joint laxity
OMIM:612350	SLC39A13	91252	HP:0000689	Dental malocclusion
OMIM:612350	SLC39A13	91252	HP:0000978	Bruising susceptibility
OMIM:612350	SLC39A13	91252	HP:0000218	High palate
OMIM:612350	SLC39A13	91252	HP:0002515	Waddling gait
OMIM:612350	SLC39A13	91252	HP:0000494	Downslanted palpebral fissures
OMIM:612350	SLC39A13	91252	HP:0100864	Short femoral neck
OMIM:612350	SLC39A13	91252	HP:0000926	Platyspondyly
OMIM:612350	SLC39A13	91252	HP:0000944	Abnormality of the metaphyses
OMIM:612350	SLC39A13	91252	HP:0004322	Short stature
OMIM:612350	SLC39A13	91252	HP:0003393	Thenar muscle atrophy
OMIM:612350	SLC39A13	91252	HP:0001371	Flexion contracture
OMIM:612350	SLC39A13	91252	HP:0010049	Short metacarpal
OMIM:612350	SLC39A13	91252	HP:0000520	Proptosis
OMIM:612350	SLC39A13	91252	HP:0000592	Blue sclerae
OMIM:612350	SLC39A13	91252	HP:0000668	Hypodontia
OMIM:612350	SLC39A13	91252	HP:0001763	Pes planus
OMIM:612350	SLC39A13	91252	HP:0001182	Tapered finger
OMIM:612350	SLC39A13	91252	HP:0000963	Thin skin
OMIM:612350	SLC39A13	91252	HP:0000193	Bifid uvula
OMIM:612350	SLC39A13	91252	HP:0005930	Abnormality of epiphysis morphology
OMIM:612350	SLC39A13	91252	HP:0003016	Metaphyseal widening
OMIM:612350	SLC39A13	91252	HP:0000007	Autosomal recessive inheritance
OMIM:612350	SLC39A13	91252	HP:0100490	Camptodactyly of finger
OMIM:612350	SLC39A13	91252	HP:0002652	Skeletal dysplasia
OMIM:612350	SLC39A13	91252	HP:0000684	Delayed eruption of teeth
OMIM:612350	SLC39A13	91252	HP:0003202	Skeletal muscle atrophy
OMIM:229070	FSHB	2488	HP:0000007	Autosomal recessive inheritance
OMIM:229070	FSHB	2488	HP:0008734	Decreased testicular size
OMIM:229070	FSHB	2488	HP:0000789	Infertility
OMIM:229070	FSHB	2488	HP:0002750	Delayed skeletal maturation
OMIM:229070	FSHB	2488	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:229070	FSHB	2488	HP:0000786	Primary amenorrhea
OMIM:156200	MBD5	55777	HP:0000369	Low-set ears
OMIM:156200	MBD5	55777	HP:0000414	Bulbous nose
OMIM:156200	MBD5	55777	HP:0000378	Cupped ear
OMIM:156200	MBD5	55777	HP:0000252	Microcephaly
OMIM:156200	MBD5	55777	HP:0002463	Language impairment
OMIM:156200	MBD5	55777	HP:0003196	Short nose
OMIM:156200	MBD5	55777	HP:0000028	Cryptorchidism
OMIM:156200	MBD5	55777	HP:0001852	Sandal gap
OMIM:156200	MBD5	55777	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	MBD5	55777	HP:0000733	Stereotypic behavior
OMIM:156200	MBD5	55777	HP:0002007	Frontal bossing
OMIM:156200	MBD5	55777	HP:0100716	Self-injurious behavior
OMIM:156200	MBD5	55777	HP:0000574	Thick eyebrow
OMIM:156200	MBD5	55777	HP:0002714	Downturned corners of mouth
OMIM:156200	MBD5	55777	HP:0000194	Open mouth
OMIM:156200	MBD5	55777	HP:0000232	Everted lower lip vermilion
OMIM:156200	MBD5	55777	HP:0000006	Autosomal dominant inheritance
OMIM:156200	MBD5	55777	HP:0003272	Abnormality of the hip bone
OMIM:156200	MBD5	55777	HP:0200055	Small hand
OMIM:156200	MBD5	55777	HP:0000664	Synophrys
OMIM:156200	MBD5	55777	HP:0000448	Prominent nose
OMIM:156200	MBD5	55777	HP:0000540	Hypermetropia
OMIM:156200	MBD5	55777	HP:0001249	Intellectual disability
OMIM:156200	MBD5	55777	HP:0001251	Ataxia
OMIM:156200	MBD5	55777	HP:0001773	Short foot
OMIM:156200	MBD5	55777	HP:0002373	Febrile seizures
OMIM:156200	MBD5	55777	HP:0001572	Macrodontia
OMIM:156200	MBD5	55777	HP:0100543	Cognitive impairment
OMIM:156200	MBD5	55777	HP:0000545	Myopia
OMIM:156200	MBD5	55777	HP:0002553	Highly arched eyebrow
OMIM:156200	MBD5	55777	HP:0000736	Short attention span
OMIM:156200	MBD5	55777	HP:0000337	Broad forehead
OMIM:156200	MBD5	55777	HP:0000331	Short chin
OMIM:156200	MBD5	55777	HP:0000278	Retrognathia
OMIM:156200	MBD5	55777	HP:0000483	Astigmatism
OMIM:156200	MBD5	55777	HP:0008736	Hypoplasia of penis
OMIM:156200	MBD5	55777	HP:0010804	Tented upper lip vermilion
OMIM:156200	MBD5	55777	HP:0000687	Widely spaced teeth
OMIM:156200	MBD5	55777	HP:0002167	Neurological speech impairment
OMIM:156200	MBD5	55777	HP:0008551	Microtia
OMIM:156200	MBD5	55777	HP:0000347	Micrognathia
OMIM:156200	MBD5	55777	HP:0000411	Protruding ear
OMIM:156200	MBD5	55777	HP:0000219	Thin upper lip vermilion
OMIM:156200	MBD5	55777	HP:0000280	Coarse facial features
OMIM:156200	MBD5	55777	HP:0000505	Visual impairment
OMIM:156200	MBD5	55777	HP:0002311	Incoordination
OMIM:156200	MBD5	55777	HP:0004322	Short stature
OMIM:156200	MBD5	55777	HP:0000565	Esotropia
OMIM:156200	MBD5	55777	HP:0001252	Muscular hypotonia
OMIM:156200	MBD5	55777	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	MBD5	55777	HP:0001270	Motor delay
OMIM:156200	MBD5	55777	HP:0000154	Wide mouth
OMIM:156200	MBD5	55777	HP:0000178	Abnormality of lower lip
OMIM:156200	MBD5	55777	HP:0001156	Brachydactyly syndrome
OMIM:156200	MBD5	55777	HP:0000718	Aggressive behavior
OMIM:156200	MBD5	55777	HP:0002360	Sleep disturbance
OMIM:156200	MBD5	55777	HP:0008872	Feeding difficulties in infancy
OMIM:156200	MBD5	55777	HP:0002200	Pseudobulbar signs
OMIM:156200	MBD5	55777	HP:0008897	Postnatal growth retardation
OMIM:156200	MBD5	55777	HP:0002019	Constipation
OMIM:156200	MBD5	55777	HP:0000272	Malar flattening
OMIM:156200	CACNG2	10369	HP:0000369	Low-set ears
OMIM:156200	CACNG2	10369	HP:0000414	Bulbous nose
OMIM:156200	CACNG2	10369	HP:0000378	Cupped ear
OMIM:156200	CACNG2	10369	HP:0000252	Microcephaly
OMIM:156200	CACNG2	10369	HP:0002463	Language impairment
OMIM:156200	CACNG2	10369	HP:0003196	Short nose
OMIM:156200	CACNG2	10369	HP:0000028	Cryptorchidism
OMIM:156200	CACNG2	10369	HP:0001852	Sandal gap
OMIM:156200	CACNG2	10369	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	CACNG2	10369	HP:0000733	Stereotypic behavior
OMIM:156200	CACNG2	10369	HP:0002007	Frontal bossing
OMIM:156200	CACNG2	10369	HP:0100716	Self-injurious behavior
OMIM:156200	CACNG2	10369	HP:0000574	Thick eyebrow
OMIM:156200	CACNG2	10369	HP:0002714	Downturned corners of mouth
OMIM:156200	CACNG2	10369	HP:0000194	Open mouth
OMIM:156200	CACNG2	10369	HP:0000232	Everted lower lip vermilion
OMIM:156200	CACNG2	10369	HP:0000006	Autosomal dominant inheritance
OMIM:156200	CACNG2	10369	HP:0003272	Abnormality of the hip bone
OMIM:156200	CACNG2	10369	HP:0200055	Small hand
OMIM:156200	CACNG2	10369	HP:0000664	Synophrys
OMIM:156200	CACNG2	10369	HP:0000448	Prominent nose
OMIM:156200	CACNG2	10369	HP:0000540	Hypermetropia
OMIM:156200	CACNG2	10369	HP:0001249	Intellectual disability
OMIM:156200	CACNG2	10369	HP:0001251	Ataxia
OMIM:156200	CACNG2	10369	HP:0001773	Short foot
OMIM:156200	CACNG2	10369	HP:0002373	Febrile seizures
OMIM:156200	CACNG2	10369	HP:0001572	Macrodontia
OMIM:156200	CACNG2	10369	HP:0100543	Cognitive impairment
OMIM:156200	CACNG2	10369	HP:0000545	Myopia
OMIM:156200	CACNG2	10369	HP:0002553	Highly arched eyebrow
OMIM:156200	CACNG2	10369	HP:0000736	Short attention span
OMIM:156200	CACNG2	10369	HP:0000337	Broad forehead
OMIM:156200	CACNG2	10369	HP:0000331	Short chin
OMIM:156200	CACNG2	10369	HP:0000278	Retrognathia
OMIM:156200	CACNG2	10369	HP:0000483	Astigmatism
OMIM:156200	CACNG2	10369	HP:0008736	Hypoplasia of penis
OMIM:156200	CACNG2	10369	HP:0010804	Tented upper lip vermilion
OMIM:156200	CACNG2	10369	HP:0000687	Widely spaced teeth
OMIM:156200	CACNG2	10369	HP:0002167	Neurological speech impairment
OMIM:156200	CACNG2	10369	HP:0008551	Microtia
OMIM:156200	CACNG2	10369	HP:0000347	Micrognathia
OMIM:156200	CACNG2	10369	HP:0000411	Protruding ear
OMIM:156200	CACNG2	10369	HP:0000219	Thin upper lip vermilion
OMIM:156200	CACNG2	10369	HP:0000280	Coarse facial features
OMIM:156200	CACNG2	10369	HP:0000505	Visual impairment
OMIM:156200	CACNG2	10369	HP:0002311	Incoordination
OMIM:156200	CACNG2	10369	HP:0004322	Short stature
OMIM:156200	CACNG2	10369	HP:0000565	Esotropia
OMIM:156200	CACNG2	10369	HP:0001252	Muscular hypotonia
OMIM:156200	CACNG2	10369	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	CACNG2	10369	HP:0001270	Motor delay
OMIM:156200	CACNG2	10369	HP:0000154	Wide mouth
OMIM:156200	CACNG2	10369	HP:0000178	Abnormality of lower lip
OMIM:156200	CACNG2	10369	HP:0001156	Brachydactyly syndrome
OMIM:156200	CACNG2	10369	HP:0000718	Aggressive behavior
OMIM:156200	CACNG2	10369	HP:0002360	Sleep disturbance
OMIM:156200	CACNG2	10369	HP:0008872	Feeding difficulties in infancy
OMIM:156200	CACNG2	10369	HP:0002200	Pseudobulbar signs
OMIM:156200	CACNG2	10369	HP:0008897	Postnatal growth retardation
OMIM:156200	CACNG2	10369	HP:0002019	Constipation
OMIM:156200	CACNG2	10369	HP:0000272	Malar flattening
OMIM:156200	DYRK1A	1859	HP:0000369	Low-set ears
OMIM:156200	DYRK1A	1859	HP:0000414	Bulbous nose
OMIM:156200	DYRK1A	1859	HP:0000378	Cupped ear
OMIM:156200	DYRK1A	1859	HP:0000252	Microcephaly
OMIM:156200	DYRK1A	1859	HP:0002463	Language impairment
OMIM:156200	DYRK1A	1859	HP:0003196	Short nose
OMIM:156200	DYRK1A	1859	HP:0000028	Cryptorchidism
OMIM:156200	DYRK1A	1859	HP:0001852	Sandal gap
OMIM:156200	DYRK1A	1859	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	DYRK1A	1859	HP:0000733	Stereotypic behavior
OMIM:156200	DYRK1A	1859	HP:0002007	Frontal bossing
OMIM:156200	DYRK1A	1859	HP:0100716	Self-injurious behavior
OMIM:156200	DYRK1A	1859	HP:0000574	Thick eyebrow
OMIM:156200	DYRK1A	1859	HP:0002714	Downturned corners of mouth
OMIM:156200	DYRK1A	1859	HP:0000194	Open mouth
OMIM:156200	DYRK1A	1859	HP:0000232	Everted lower lip vermilion
OMIM:156200	DYRK1A	1859	HP:0000006	Autosomal dominant inheritance
OMIM:156200	DYRK1A	1859	HP:0003272	Abnormality of the hip bone
OMIM:156200	DYRK1A	1859	HP:0200055	Small hand
OMIM:156200	DYRK1A	1859	HP:0000664	Synophrys
OMIM:156200	DYRK1A	1859	HP:0000448	Prominent nose
OMIM:156200	DYRK1A	1859	HP:0000540	Hypermetropia
OMIM:156200	DYRK1A	1859	HP:0001249	Intellectual disability
OMIM:156200	DYRK1A	1859	HP:0001251	Ataxia
OMIM:156200	DYRK1A	1859	HP:0001773	Short foot
OMIM:156200	DYRK1A	1859	HP:0002373	Febrile seizures
OMIM:156200	DYRK1A	1859	HP:0001572	Macrodontia
OMIM:156200	DYRK1A	1859	HP:0100543	Cognitive impairment
OMIM:156200	DYRK1A	1859	HP:0000545	Myopia
OMIM:156200	DYRK1A	1859	HP:0002553	Highly arched eyebrow
OMIM:156200	DYRK1A	1859	HP:0000736	Short attention span
OMIM:156200	DYRK1A	1859	HP:0000337	Broad forehead
OMIM:156200	DYRK1A	1859	HP:0000331	Short chin
OMIM:156200	DYRK1A	1859	HP:0000278	Retrognathia
OMIM:156200	DYRK1A	1859	HP:0000483	Astigmatism
OMIM:156200	DYRK1A	1859	HP:0008736	Hypoplasia of penis
OMIM:156200	DYRK1A	1859	HP:0010804	Tented upper lip vermilion
OMIM:156200	DYRK1A	1859	HP:0000687	Widely spaced teeth
OMIM:156200	DYRK1A	1859	HP:0002167	Neurological speech impairment
OMIM:156200	DYRK1A	1859	HP:0008551	Microtia
OMIM:156200	DYRK1A	1859	HP:0000347	Micrognathia
OMIM:156200	DYRK1A	1859	HP:0000411	Protruding ear
OMIM:156200	DYRK1A	1859	HP:0000219	Thin upper lip vermilion
OMIM:156200	DYRK1A	1859	HP:0000280	Coarse facial features
OMIM:156200	DYRK1A	1859	HP:0000505	Visual impairment
OMIM:156200	DYRK1A	1859	HP:0002311	Incoordination
OMIM:156200	DYRK1A	1859	HP:0004322	Short stature
OMIM:156200	DYRK1A	1859	HP:0000565	Esotropia
OMIM:156200	DYRK1A	1859	HP:0001252	Muscular hypotonia
OMIM:156200	DYRK1A	1859	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	DYRK1A	1859	HP:0001270	Motor delay
OMIM:156200	DYRK1A	1859	HP:0000154	Wide mouth
OMIM:156200	DYRK1A	1859	HP:0000178	Abnormality of lower lip
OMIM:156200	DYRK1A	1859	HP:0001156	Brachydactyly syndrome
OMIM:156200	DYRK1A	1859	HP:0000718	Aggressive behavior
OMIM:156200	DYRK1A	1859	HP:0002360	Sleep disturbance
OMIM:156200	DYRK1A	1859	HP:0008872	Feeding difficulties in infancy
OMIM:156200	DYRK1A	1859	HP:0002200	Pseudobulbar signs
OMIM:156200	DYRK1A	1859	HP:0008897	Postnatal growth retardation
OMIM:156200	DYRK1A	1859	HP:0002019	Constipation
OMIM:156200	DYRK1A	1859	HP:0000272	Malar flattening
OMIM:156200	KIF1A	547	HP:0000369	Low-set ears
OMIM:156200	KIF1A	547	HP:0000414	Bulbous nose
OMIM:156200	KIF1A	547	HP:0000378	Cupped ear
OMIM:156200	KIF1A	547	HP:0000252	Microcephaly
OMIM:156200	KIF1A	547	HP:0002463	Language impairment
OMIM:156200	KIF1A	547	HP:0003196	Short nose
OMIM:156200	KIF1A	547	HP:0000028	Cryptorchidism
OMIM:156200	KIF1A	547	HP:0001852	Sandal gap
OMIM:156200	KIF1A	547	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	KIF1A	547	HP:0000733	Stereotypic behavior
OMIM:156200	KIF1A	547	HP:0002007	Frontal bossing
OMIM:156200	KIF1A	547	HP:0100716	Self-injurious behavior
OMIM:156200	KIF1A	547	HP:0000574	Thick eyebrow
OMIM:156200	KIF1A	547	HP:0002714	Downturned corners of mouth
OMIM:156200	KIF1A	547	HP:0000194	Open mouth
OMIM:156200	KIF1A	547	HP:0000232	Everted lower lip vermilion
OMIM:156200	KIF1A	547	HP:0000006	Autosomal dominant inheritance
OMIM:156200	KIF1A	547	HP:0003272	Abnormality of the hip bone
OMIM:156200	KIF1A	547	HP:0200055	Small hand
OMIM:156200	KIF1A	547	HP:0000664	Synophrys
OMIM:156200	KIF1A	547	HP:0000448	Prominent nose
OMIM:156200	KIF1A	547	HP:0000540	Hypermetropia
OMIM:156200	KIF1A	547	HP:0001249	Intellectual disability
OMIM:156200	KIF1A	547	HP:0001251	Ataxia
OMIM:156200	KIF1A	547	HP:0001773	Short foot
OMIM:156200	KIF1A	547	HP:0002373	Febrile seizures
OMIM:156200	KIF1A	547	HP:0001572	Macrodontia
OMIM:156200	KIF1A	547	HP:0100543	Cognitive impairment
OMIM:156200	KIF1A	547	HP:0000545	Myopia
OMIM:156200	KIF1A	547	HP:0002553	Highly arched eyebrow
OMIM:156200	KIF1A	547	HP:0000736	Short attention span
OMIM:156200	KIF1A	547	HP:0000337	Broad forehead
OMIM:156200	KIF1A	547	HP:0000331	Short chin
OMIM:156200	KIF1A	547	HP:0000278	Retrognathia
OMIM:156200	KIF1A	547	HP:0000483	Astigmatism
OMIM:156200	KIF1A	547	HP:0008736	Hypoplasia of penis
OMIM:156200	KIF1A	547	HP:0010804	Tented upper lip vermilion
OMIM:156200	KIF1A	547	HP:0000687	Widely spaced teeth
OMIM:156200	KIF1A	547	HP:0002167	Neurological speech impairment
OMIM:156200	KIF1A	547	HP:0008551	Microtia
OMIM:156200	KIF1A	547	HP:0000347	Micrognathia
OMIM:156200	KIF1A	547	HP:0000411	Protruding ear
OMIM:156200	KIF1A	547	HP:0000219	Thin upper lip vermilion
OMIM:156200	KIF1A	547	HP:0000280	Coarse facial features
OMIM:156200	KIF1A	547	HP:0000505	Visual impairment
OMIM:156200	KIF1A	547	HP:0002311	Incoordination
OMIM:156200	KIF1A	547	HP:0004322	Short stature
OMIM:156200	KIF1A	547	HP:0000565	Esotropia
OMIM:156200	KIF1A	547	HP:0001252	Muscular hypotonia
OMIM:156200	KIF1A	547	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	KIF1A	547	HP:0001270	Motor delay
OMIM:156200	KIF1A	547	HP:0000154	Wide mouth
OMIM:156200	KIF1A	547	HP:0000178	Abnormality of lower lip
OMIM:156200	KIF1A	547	HP:0001156	Brachydactyly syndrome
OMIM:156200	KIF1A	547	HP:0000718	Aggressive behavior
OMIM:156200	KIF1A	547	HP:0002360	Sleep disturbance
OMIM:156200	KIF1A	547	HP:0008872	Feeding difficulties in infancy
OMIM:156200	KIF1A	547	HP:0002200	Pseudobulbar signs
OMIM:156200	KIF1A	547	HP:0008897	Postnatal growth retardation
OMIM:156200	KIF1A	547	HP:0002019	Constipation
OMIM:156200	KIF1A	547	HP:0000272	Malar flattening
OMIM:156200	DOCK8	81704	HP:0000369	Low-set ears
OMIM:156200	DOCK8	81704	HP:0000414	Bulbous nose
OMIM:156200	DOCK8	81704	HP:0000378	Cupped ear
OMIM:156200	DOCK8	81704	HP:0000252	Microcephaly
OMIM:156200	DOCK8	81704	HP:0002463	Language impairment
OMIM:156200	DOCK8	81704	HP:0003196	Short nose
OMIM:156200	DOCK8	81704	HP:0000028	Cryptorchidism
OMIM:156200	DOCK8	81704	HP:0001852	Sandal gap
OMIM:156200	DOCK8	81704	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	DOCK8	81704	HP:0000733	Stereotypic behavior
OMIM:156200	DOCK8	81704	HP:0002007	Frontal bossing
OMIM:156200	DOCK8	81704	HP:0100716	Self-injurious behavior
OMIM:156200	DOCK8	81704	HP:0000574	Thick eyebrow
OMIM:156200	DOCK8	81704	HP:0002714	Downturned corners of mouth
OMIM:156200	DOCK8	81704	HP:0000194	Open mouth
OMIM:156200	DOCK8	81704	HP:0000232	Everted lower lip vermilion
OMIM:156200	DOCK8	81704	HP:0000006	Autosomal dominant inheritance
OMIM:156200	DOCK8	81704	HP:0003272	Abnormality of the hip bone
OMIM:156200	DOCK8	81704	HP:0200055	Small hand
OMIM:156200	DOCK8	81704	HP:0000664	Synophrys
OMIM:156200	DOCK8	81704	HP:0000448	Prominent nose
OMIM:156200	DOCK8	81704	HP:0000540	Hypermetropia
OMIM:156200	DOCK8	81704	HP:0001249	Intellectual disability
OMIM:156200	DOCK8	81704	HP:0001251	Ataxia
OMIM:156200	DOCK8	81704	HP:0001773	Short foot
OMIM:156200	DOCK8	81704	HP:0002373	Febrile seizures
OMIM:156200	DOCK8	81704	HP:0001572	Macrodontia
OMIM:156200	DOCK8	81704	HP:0100543	Cognitive impairment
OMIM:156200	DOCK8	81704	HP:0000545	Myopia
OMIM:156200	DOCK8	81704	HP:0002553	Highly arched eyebrow
OMIM:156200	DOCK8	81704	HP:0000736	Short attention span
OMIM:156200	DOCK8	81704	HP:0000337	Broad forehead
OMIM:156200	DOCK8	81704	HP:0000331	Short chin
OMIM:156200	DOCK8	81704	HP:0000278	Retrognathia
OMIM:156200	DOCK8	81704	HP:0000483	Astigmatism
OMIM:156200	DOCK8	81704	HP:0008736	Hypoplasia of penis
OMIM:156200	DOCK8	81704	HP:0010804	Tented upper lip vermilion
OMIM:156200	DOCK8	81704	HP:0000687	Widely spaced teeth
OMIM:156200	DOCK8	81704	HP:0002167	Neurological speech impairment
OMIM:156200	DOCK8	81704	HP:0008551	Microtia
OMIM:156200	DOCK8	81704	HP:0000347	Micrognathia
OMIM:156200	DOCK8	81704	HP:0000411	Protruding ear
OMIM:156200	DOCK8	81704	HP:0000219	Thin upper lip vermilion
OMIM:156200	DOCK8	81704	HP:0000280	Coarse facial features
OMIM:156200	DOCK8	81704	HP:0000505	Visual impairment
OMIM:156200	DOCK8	81704	HP:0002311	Incoordination
OMIM:156200	DOCK8	81704	HP:0004322	Short stature
OMIM:156200	DOCK8	81704	HP:0000565	Esotropia
OMIM:156200	DOCK8	81704	HP:0001252	Muscular hypotonia
OMIM:156200	DOCK8	81704	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	DOCK8	81704	HP:0001270	Motor delay
OMIM:156200	DOCK8	81704	HP:0000154	Wide mouth
OMIM:156200	DOCK8	81704	HP:0000178	Abnormality of lower lip
OMIM:156200	DOCK8	81704	HP:0001156	Brachydactyly syndrome
OMIM:156200	DOCK8	81704	HP:0000718	Aggressive behavior
OMIM:156200	DOCK8	81704	HP:0002360	Sleep disturbance
OMIM:156200	DOCK8	81704	HP:0008872	Feeding difficulties in infancy
OMIM:156200	DOCK8	81704	HP:0002200	Pseudobulbar signs
OMIM:156200	DOCK8	81704	HP:0008897	Postnatal growth retardation
OMIM:156200	DOCK8	81704	HP:0002019	Constipation
OMIM:156200	DOCK8	81704	HP:0000272	Malar flattening
OMIM:156200	TCF4	6925	HP:0000369	Low-set ears
OMIM:156200	TCF4	6925	HP:0000414	Bulbous nose
OMIM:156200	TCF4	6925	HP:0000378	Cupped ear
OMIM:156200	TCF4	6925	HP:0000252	Microcephaly
OMIM:156200	TCF4	6925	HP:0002463	Language impairment
OMIM:156200	TCF4	6925	HP:0003196	Short nose
OMIM:156200	TCF4	6925	HP:0000028	Cryptorchidism
OMIM:156200	TCF4	6925	HP:0001852	Sandal gap
OMIM:156200	TCF4	6925	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	TCF4	6925	HP:0000733	Stereotypic behavior
OMIM:156200	TCF4	6925	HP:0002007	Frontal bossing
OMIM:156200	TCF4	6925	HP:0100716	Self-injurious behavior
OMIM:156200	TCF4	6925	HP:0000574	Thick eyebrow
OMIM:156200	TCF4	6925	HP:0002714	Downturned corners of mouth
OMIM:156200	TCF4	6925	HP:0000194	Open mouth
OMIM:156200	TCF4	6925	HP:0000232	Everted lower lip vermilion
OMIM:156200	TCF4	6925	HP:0000006	Autosomal dominant inheritance
OMIM:156200	TCF4	6925	HP:0003272	Abnormality of the hip bone
OMIM:156200	TCF4	6925	HP:0200055	Small hand
OMIM:156200	TCF4	6925	HP:0000664	Synophrys
OMIM:156200	TCF4	6925	HP:0000448	Prominent nose
OMIM:156200	TCF4	6925	HP:0000540	Hypermetropia
OMIM:156200	TCF4	6925	HP:0001249	Intellectual disability
OMIM:156200	TCF4	6925	HP:0001251	Ataxia
OMIM:156200	TCF4	6925	HP:0001773	Short foot
OMIM:156200	TCF4	6925	HP:0002373	Febrile seizures
OMIM:156200	TCF4	6925	HP:0001572	Macrodontia
OMIM:156200	TCF4	6925	HP:0100543	Cognitive impairment
OMIM:156200	TCF4	6925	HP:0000545	Myopia
OMIM:156200	TCF4	6925	HP:0002553	Highly arched eyebrow
OMIM:156200	TCF4	6925	HP:0000736	Short attention span
OMIM:156200	TCF4	6925	HP:0000337	Broad forehead
OMIM:156200	TCF4	6925	HP:0000331	Short chin
OMIM:156200	TCF4	6925	HP:0000278	Retrognathia
OMIM:156200	TCF4	6925	HP:0000483	Astigmatism
OMIM:156200	TCF4	6925	HP:0008736	Hypoplasia of penis
OMIM:156200	TCF4	6925	HP:0010804	Tented upper lip vermilion
OMIM:156200	TCF4	6925	HP:0000687	Widely spaced teeth
OMIM:156200	TCF4	6925	HP:0002167	Neurological speech impairment
OMIM:156200	TCF4	6925	HP:0008551	Microtia
OMIM:156200	TCF4	6925	HP:0000347	Micrognathia
OMIM:156200	TCF4	6925	HP:0000411	Protruding ear
OMIM:156200	TCF4	6925	HP:0000219	Thin upper lip vermilion
OMIM:156200	TCF4	6925	HP:0000280	Coarse facial features
OMIM:156200	TCF4	6925	HP:0000505	Visual impairment
OMIM:156200	TCF4	6925	HP:0002311	Incoordination
OMIM:156200	TCF4	6925	HP:0004322	Short stature
OMIM:156200	TCF4	6925	HP:0000565	Esotropia
OMIM:156200	TCF4	6925	HP:0001252	Muscular hypotonia
OMIM:156200	TCF4	6925	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	TCF4	6925	HP:0001270	Motor delay
OMIM:156200	TCF4	6925	HP:0000154	Wide mouth
OMIM:156200	TCF4	6925	HP:0000178	Abnormality of lower lip
OMIM:156200	TCF4	6925	HP:0001156	Brachydactyly syndrome
OMIM:156200	TCF4	6925	HP:0000718	Aggressive behavior
OMIM:156200	TCF4	6925	HP:0002360	Sleep disturbance
OMIM:156200	TCF4	6925	HP:0008872	Feeding difficulties in infancy
OMIM:156200	TCF4	6925	HP:0002200	Pseudobulbar signs
OMIM:156200	TCF4	6925	HP:0008897	Postnatal growth retardation
OMIM:156200	TCF4	6925	HP:0002019	Constipation
OMIM:156200	TCF4	6925	HP:0000272	Malar flattening
OMIM:156200	KIRREL3	84623	HP:0000369	Low-set ears
OMIM:156200	KIRREL3	84623	HP:0000414	Bulbous nose
OMIM:156200	KIRREL3	84623	HP:0000378	Cupped ear
OMIM:156200	KIRREL3	84623	HP:0000252	Microcephaly
OMIM:156200	KIRREL3	84623	HP:0002463	Language impairment
OMIM:156200	KIRREL3	84623	HP:0003196	Short nose
OMIM:156200	KIRREL3	84623	HP:0000028	Cryptorchidism
OMIM:156200	KIRREL3	84623	HP:0001852	Sandal gap
OMIM:156200	KIRREL3	84623	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	KIRREL3	84623	HP:0000733	Stereotypic behavior
OMIM:156200	KIRREL3	84623	HP:0002007	Frontal bossing
OMIM:156200	KIRREL3	84623	HP:0100716	Self-injurious behavior
OMIM:156200	KIRREL3	84623	HP:0000574	Thick eyebrow
OMIM:156200	KIRREL3	84623	HP:0002714	Downturned corners of mouth
OMIM:156200	KIRREL3	84623	HP:0000194	Open mouth
OMIM:156200	KIRREL3	84623	HP:0000232	Everted lower lip vermilion
OMIM:156200	KIRREL3	84623	HP:0000006	Autosomal dominant inheritance
OMIM:156200	KIRREL3	84623	HP:0003272	Abnormality of the hip bone
OMIM:156200	KIRREL3	84623	HP:0200055	Small hand
OMIM:156200	KIRREL3	84623	HP:0000664	Synophrys
OMIM:156200	KIRREL3	84623	HP:0000448	Prominent nose
OMIM:156200	KIRREL3	84623	HP:0000540	Hypermetropia
OMIM:156200	KIRREL3	84623	HP:0001249	Intellectual disability
OMIM:156200	KIRREL3	84623	HP:0001251	Ataxia
OMIM:156200	KIRREL3	84623	HP:0001773	Short foot
OMIM:156200	KIRREL3	84623	HP:0002373	Febrile seizures
OMIM:156200	KIRREL3	84623	HP:0001572	Macrodontia
OMIM:156200	KIRREL3	84623	HP:0100543	Cognitive impairment
OMIM:156200	KIRREL3	84623	HP:0000545	Myopia
OMIM:156200	KIRREL3	84623	HP:0002553	Highly arched eyebrow
OMIM:156200	KIRREL3	84623	HP:0000736	Short attention span
OMIM:156200	KIRREL3	84623	HP:0000337	Broad forehead
OMIM:156200	KIRREL3	84623	HP:0000331	Short chin
OMIM:156200	KIRREL3	84623	HP:0000278	Retrognathia
OMIM:156200	KIRREL3	84623	HP:0000483	Astigmatism
OMIM:156200	KIRREL3	84623	HP:0008736	Hypoplasia of penis
OMIM:156200	KIRREL3	84623	HP:0010804	Tented upper lip vermilion
OMIM:156200	KIRREL3	84623	HP:0000687	Widely spaced teeth
OMIM:156200	KIRREL3	84623	HP:0002167	Neurological speech impairment
OMIM:156200	KIRREL3	84623	HP:0008551	Microtia
OMIM:156200	KIRREL3	84623	HP:0000347	Micrognathia
OMIM:156200	KIRREL3	84623	HP:0000411	Protruding ear
OMIM:156200	KIRREL3	84623	HP:0000219	Thin upper lip vermilion
OMIM:156200	KIRREL3	84623	HP:0000280	Coarse facial features
OMIM:156200	KIRREL3	84623	HP:0000505	Visual impairment
OMIM:156200	KIRREL3	84623	HP:0002311	Incoordination
OMIM:156200	KIRREL3	84623	HP:0004322	Short stature
OMIM:156200	KIRREL3	84623	HP:0000565	Esotropia
OMIM:156200	KIRREL3	84623	HP:0001252	Muscular hypotonia
OMIM:156200	KIRREL3	84623	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	KIRREL3	84623	HP:0001270	Motor delay
OMIM:156200	KIRREL3	84623	HP:0000154	Wide mouth
OMIM:156200	KIRREL3	84623	HP:0000178	Abnormality of lower lip
OMIM:156200	KIRREL3	84623	HP:0001156	Brachydactyly syndrome
OMIM:156200	KIRREL3	84623	HP:0000718	Aggressive behavior
OMIM:156200	KIRREL3	84623	HP:0002360	Sleep disturbance
OMIM:156200	KIRREL3	84623	HP:0008872	Feeding difficulties in infancy
OMIM:156200	KIRREL3	84623	HP:0002200	Pseudobulbar signs
OMIM:156200	KIRREL3	84623	HP:0008897	Postnatal growth retardation
OMIM:156200	KIRREL3	84623	HP:0002019	Constipation
OMIM:156200	KIRREL3	84623	HP:0000272	Malar flattening
OMIM:156200	DYNC1H1	1778	HP:0000369	Low-set ears
OMIM:156200	DYNC1H1	1778	HP:0000414	Bulbous nose
OMIM:156200	DYNC1H1	1778	HP:0000378	Cupped ear
OMIM:156200	DYNC1H1	1778	HP:0000252	Microcephaly
OMIM:156200	DYNC1H1	1778	HP:0002463	Language impairment
OMIM:156200	DYNC1H1	1778	HP:0003196	Short nose
OMIM:156200	DYNC1H1	1778	HP:0000028	Cryptorchidism
OMIM:156200	DYNC1H1	1778	HP:0001852	Sandal gap
OMIM:156200	DYNC1H1	1778	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	DYNC1H1	1778	HP:0000733	Stereotypic behavior
OMIM:156200	DYNC1H1	1778	HP:0002007	Frontal bossing
OMIM:156200	DYNC1H1	1778	HP:0100716	Self-injurious behavior
OMIM:156200	DYNC1H1	1778	HP:0000574	Thick eyebrow
OMIM:156200	DYNC1H1	1778	HP:0002714	Downturned corners of mouth
OMIM:156200	DYNC1H1	1778	HP:0000194	Open mouth
OMIM:156200	DYNC1H1	1778	HP:0000232	Everted lower lip vermilion
OMIM:156200	DYNC1H1	1778	HP:0000006	Autosomal dominant inheritance
OMIM:156200	DYNC1H1	1778	HP:0003272	Abnormality of the hip bone
OMIM:156200	DYNC1H1	1778	HP:0200055	Small hand
OMIM:156200	DYNC1H1	1778	HP:0000664	Synophrys
OMIM:156200	DYNC1H1	1778	HP:0000448	Prominent nose
OMIM:156200	DYNC1H1	1778	HP:0000540	Hypermetropia
OMIM:156200	DYNC1H1	1778	HP:0001249	Intellectual disability
OMIM:156200	DYNC1H1	1778	HP:0001251	Ataxia
OMIM:156200	DYNC1H1	1778	HP:0001773	Short foot
OMIM:156200	DYNC1H1	1778	HP:0002373	Febrile seizures
OMIM:156200	DYNC1H1	1778	HP:0001572	Macrodontia
OMIM:156200	DYNC1H1	1778	HP:0100543	Cognitive impairment
OMIM:156200	DYNC1H1	1778	HP:0000545	Myopia
OMIM:156200	DYNC1H1	1778	HP:0002553	Highly arched eyebrow
OMIM:156200	DYNC1H1	1778	HP:0000736	Short attention span
OMIM:156200	DYNC1H1	1778	HP:0000337	Broad forehead
OMIM:156200	DYNC1H1	1778	HP:0000331	Short chin
OMIM:156200	DYNC1H1	1778	HP:0000278	Retrognathia
OMIM:156200	DYNC1H1	1778	HP:0000483	Astigmatism
OMIM:156200	DYNC1H1	1778	HP:0008736	Hypoplasia of penis
OMIM:156200	DYNC1H1	1778	HP:0010804	Tented upper lip vermilion
OMIM:156200	DYNC1H1	1778	HP:0000687	Widely spaced teeth
OMIM:156200	DYNC1H1	1778	HP:0002167	Neurological speech impairment
OMIM:156200	DYNC1H1	1778	HP:0008551	Microtia
OMIM:156200	DYNC1H1	1778	HP:0000347	Micrognathia
OMIM:156200	DYNC1H1	1778	HP:0000411	Protruding ear
OMIM:156200	DYNC1H1	1778	HP:0000219	Thin upper lip vermilion
OMIM:156200	DYNC1H1	1778	HP:0000280	Coarse facial features
OMIM:156200	DYNC1H1	1778	HP:0000505	Visual impairment
OMIM:156200	DYNC1H1	1778	HP:0002311	Incoordination
OMIM:156200	DYNC1H1	1778	HP:0004322	Short stature
OMIM:156200	DYNC1H1	1778	HP:0000565	Esotropia
OMIM:156200	DYNC1H1	1778	HP:0001252	Muscular hypotonia
OMIM:156200	DYNC1H1	1778	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	DYNC1H1	1778	HP:0001270	Motor delay
OMIM:156200	DYNC1H1	1778	HP:0000154	Wide mouth
OMIM:156200	DYNC1H1	1778	HP:0000178	Abnormality of lower lip
OMIM:156200	DYNC1H1	1778	HP:0001156	Brachydactyly syndrome
OMIM:156200	DYNC1H1	1778	HP:0000718	Aggressive behavior
OMIM:156200	DYNC1H1	1778	HP:0002360	Sleep disturbance
OMIM:156200	DYNC1H1	1778	HP:0008872	Feeding difficulties in infancy
OMIM:156200	DYNC1H1	1778	HP:0002200	Pseudobulbar signs
OMIM:156200	DYNC1H1	1778	HP:0008897	Postnatal growth retardation
OMIM:156200	DYNC1H1	1778	HP:0002019	Constipation
OMIM:156200	DYNC1H1	1778	HP:0000272	Malar flattening
OMIM:156200	EPB41L1	2036	HP:0000369	Low-set ears
OMIM:156200	EPB41L1	2036	HP:0000414	Bulbous nose
OMIM:156200	EPB41L1	2036	HP:0000378	Cupped ear
OMIM:156200	EPB41L1	2036	HP:0000252	Microcephaly
OMIM:156200	EPB41L1	2036	HP:0002463	Language impairment
OMIM:156200	EPB41L1	2036	HP:0003196	Short nose
OMIM:156200	EPB41L1	2036	HP:0000028	Cryptorchidism
OMIM:156200	EPB41L1	2036	HP:0001852	Sandal gap
OMIM:156200	EPB41L1	2036	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	EPB41L1	2036	HP:0000733	Stereotypic behavior
OMIM:156200	EPB41L1	2036	HP:0002007	Frontal bossing
OMIM:156200	EPB41L1	2036	HP:0100716	Self-injurious behavior
OMIM:156200	EPB41L1	2036	HP:0000574	Thick eyebrow
OMIM:156200	EPB41L1	2036	HP:0002714	Downturned corners of mouth
OMIM:156200	EPB41L1	2036	HP:0000194	Open mouth
OMIM:156200	EPB41L1	2036	HP:0000232	Everted lower lip vermilion
OMIM:156200	EPB41L1	2036	HP:0000006	Autosomal dominant inheritance
OMIM:156200	EPB41L1	2036	HP:0003272	Abnormality of the hip bone
OMIM:156200	EPB41L1	2036	HP:0200055	Small hand
OMIM:156200	EPB41L1	2036	HP:0000664	Synophrys
OMIM:156200	EPB41L1	2036	HP:0000448	Prominent nose
OMIM:156200	EPB41L1	2036	HP:0000540	Hypermetropia
OMIM:156200	EPB41L1	2036	HP:0001249	Intellectual disability
OMIM:156200	EPB41L1	2036	HP:0001251	Ataxia
OMIM:156200	EPB41L1	2036	HP:0001773	Short foot
OMIM:156200	EPB41L1	2036	HP:0002373	Febrile seizures
OMIM:156200	EPB41L1	2036	HP:0001572	Macrodontia
OMIM:156200	EPB41L1	2036	HP:0100543	Cognitive impairment
OMIM:156200	EPB41L1	2036	HP:0000545	Myopia
OMIM:156200	EPB41L1	2036	HP:0002553	Highly arched eyebrow
OMIM:156200	EPB41L1	2036	HP:0000736	Short attention span
OMIM:156200	EPB41L1	2036	HP:0000337	Broad forehead
OMIM:156200	EPB41L1	2036	HP:0000331	Short chin
OMIM:156200	EPB41L1	2036	HP:0000278	Retrognathia
OMIM:156200	EPB41L1	2036	HP:0000483	Astigmatism
OMIM:156200	EPB41L1	2036	HP:0008736	Hypoplasia of penis
OMIM:156200	EPB41L1	2036	HP:0010804	Tented upper lip vermilion
OMIM:156200	EPB41L1	2036	HP:0000687	Widely spaced teeth
OMIM:156200	EPB41L1	2036	HP:0002167	Neurological speech impairment
OMIM:156200	EPB41L1	2036	HP:0008551	Microtia
OMIM:156200	EPB41L1	2036	HP:0000347	Micrognathia
OMIM:156200	EPB41L1	2036	HP:0000411	Protruding ear
OMIM:156200	EPB41L1	2036	HP:0000219	Thin upper lip vermilion
OMIM:156200	EPB41L1	2036	HP:0000280	Coarse facial features
OMIM:156200	EPB41L1	2036	HP:0000505	Visual impairment
OMIM:156200	EPB41L1	2036	HP:0002311	Incoordination
OMIM:156200	EPB41L1	2036	HP:0004322	Short stature
OMIM:156200	EPB41L1	2036	HP:0000565	Esotropia
OMIM:156200	EPB41L1	2036	HP:0001252	Muscular hypotonia
OMIM:156200	EPB41L1	2036	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	EPB41L1	2036	HP:0001270	Motor delay
OMIM:156200	EPB41L1	2036	HP:0000154	Wide mouth
OMIM:156200	EPB41L1	2036	HP:0000178	Abnormality of lower lip
OMIM:156200	EPB41L1	2036	HP:0001156	Brachydactyly syndrome
OMIM:156200	EPB41L1	2036	HP:0000718	Aggressive behavior
OMIM:156200	EPB41L1	2036	HP:0002360	Sleep disturbance
OMIM:156200	EPB41L1	2036	HP:0008872	Feeding difficulties in infancy
OMIM:156200	EPB41L1	2036	HP:0002200	Pseudobulbar signs
OMIM:156200	EPB41L1	2036	HP:0008897	Postnatal growth retardation
OMIM:156200	EPB41L1	2036	HP:0002019	Constipation
OMIM:156200	EPB41L1	2036	HP:0000272	Malar flattening
OMIM:156200	CDH15	1013	HP:0000369	Low-set ears
OMIM:156200	CDH15	1013	HP:0000414	Bulbous nose
OMIM:156200	CDH15	1013	HP:0000378	Cupped ear
OMIM:156200	CDH15	1013	HP:0000252	Microcephaly
OMIM:156200	CDH15	1013	HP:0002463	Language impairment
OMIM:156200	CDH15	1013	HP:0003196	Short nose
OMIM:156200	CDH15	1013	HP:0000028	Cryptorchidism
OMIM:156200	CDH15	1013	HP:0001852	Sandal gap
OMIM:156200	CDH15	1013	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	CDH15	1013	HP:0000733	Stereotypic behavior
OMIM:156200	CDH15	1013	HP:0002007	Frontal bossing
OMIM:156200	CDH15	1013	HP:0100716	Self-injurious behavior
OMIM:156200	CDH15	1013	HP:0000574	Thick eyebrow
OMIM:156200	CDH15	1013	HP:0002714	Downturned corners of mouth
OMIM:156200	CDH15	1013	HP:0000194	Open mouth
OMIM:156200	CDH15	1013	HP:0000232	Everted lower lip vermilion
OMIM:156200	CDH15	1013	HP:0000006	Autosomal dominant inheritance
OMIM:156200	CDH15	1013	HP:0003272	Abnormality of the hip bone
OMIM:156200	CDH15	1013	HP:0200055	Small hand
OMIM:156200	CDH15	1013	HP:0000664	Synophrys
OMIM:156200	CDH15	1013	HP:0000448	Prominent nose
OMIM:156200	CDH15	1013	HP:0000540	Hypermetropia
OMIM:156200	CDH15	1013	HP:0001249	Intellectual disability
OMIM:156200	CDH15	1013	HP:0001251	Ataxia
OMIM:156200	CDH15	1013	HP:0001773	Short foot
OMIM:156200	CDH15	1013	HP:0002373	Febrile seizures
OMIM:156200	CDH15	1013	HP:0001572	Macrodontia
OMIM:156200	CDH15	1013	HP:0100543	Cognitive impairment
OMIM:156200	CDH15	1013	HP:0000545	Myopia
OMIM:156200	CDH15	1013	HP:0002553	Highly arched eyebrow
OMIM:156200	CDH15	1013	HP:0000736	Short attention span
OMIM:156200	CDH15	1013	HP:0000337	Broad forehead
OMIM:156200	CDH15	1013	HP:0000331	Short chin
OMIM:156200	CDH15	1013	HP:0000278	Retrognathia
OMIM:156200	CDH15	1013	HP:0000483	Astigmatism
OMIM:156200	CDH15	1013	HP:0008736	Hypoplasia of penis
OMIM:156200	CDH15	1013	HP:0010804	Tented upper lip vermilion
OMIM:156200	CDH15	1013	HP:0000687	Widely spaced teeth
OMIM:156200	CDH15	1013	HP:0002167	Neurological speech impairment
OMIM:156200	CDH15	1013	HP:0008551	Microtia
OMIM:156200	CDH15	1013	HP:0000347	Micrognathia
OMIM:156200	CDH15	1013	HP:0000411	Protruding ear
OMIM:156200	CDH15	1013	HP:0000219	Thin upper lip vermilion
OMIM:156200	CDH15	1013	HP:0000280	Coarse facial features
OMIM:156200	CDH15	1013	HP:0000505	Visual impairment
OMIM:156200	CDH15	1013	HP:0002311	Incoordination
OMIM:156200	CDH15	1013	HP:0004322	Short stature
OMIM:156200	CDH15	1013	HP:0000565	Esotropia
OMIM:156200	CDH15	1013	HP:0001252	Muscular hypotonia
OMIM:156200	CDH15	1013	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	CDH15	1013	HP:0001270	Motor delay
OMIM:156200	CDH15	1013	HP:0000154	Wide mouth
OMIM:156200	CDH15	1013	HP:0000178	Abnormality of lower lip
OMIM:156200	CDH15	1013	HP:0001156	Brachydactyly syndrome
OMIM:156200	CDH15	1013	HP:0000718	Aggressive behavior
OMIM:156200	CDH15	1013	HP:0002360	Sleep disturbance
OMIM:156200	CDH15	1013	HP:0008872	Feeding difficulties in infancy
OMIM:156200	CDH15	1013	HP:0002200	Pseudobulbar signs
OMIM:156200	CDH15	1013	HP:0008897	Postnatal growth retardation
OMIM:156200	CDH15	1013	HP:0002019	Constipation
OMIM:156200	CDH15	1013	HP:0000272	Malar flattening
OMIM:156200	GRIN1	2902	HP:0000369	Low-set ears
OMIM:156200	GRIN1	2902	HP:0000414	Bulbous nose
OMIM:156200	GRIN1	2902	HP:0000378	Cupped ear
OMIM:156200	GRIN1	2902	HP:0000252	Microcephaly
OMIM:156200	GRIN1	2902	HP:0002463	Language impairment
OMIM:156200	GRIN1	2902	HP:0003196	Short nose
OMIM:156200	GRIN1	2902	HP:0000028	Cryptorchidism
OMIM:156200	GRIN1	2902	HP:0001852	Sandal gap
OMIM:156200	GRIN1	2902	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	GRIN1	2902	HP:0000733	Stereotypic behavior
OMIM:156200	GRIN1	2902	HP:0002007	Frontal bossing
OMIM:156200	GRIN1	2902	HP:0100716	Self-injurious behavior
OMIM:156200	GRIN1	2902	HP:0000574	Thick eyebrow
OMIM:156200	GRIN1	2902	HP:0002714	Downturned corners of mouth
OMIM:156200	GRIN1	2902	HP:0000194	Open mouth
OMIM:156200	GRIN1	2902	HP:0000232	Everted lower lip vermilion
OMIM:156200	GRIN1	2902	HP:0000006	Autosomal dominant inheritance
OMIM:156200	GRIN1	2902	HP:0003272	Abnormality of the hip bone
OMIM:156200	GRIN1	2902	HP:0200055	Small hand
OMIM:156200	GRIN1	2902	HP:0000664	Synophrys
OMIM:156200	GRIN1	2902	HP:0000448	Prominent nose
OMIM:156200	GRIN1	2902	HP:0000540	Hypermetropia
OMIM:156200	GRIN1	2902	HP:0001249	Intellectual disability
OMIM:156200	GRIN1	2902	HP:0001251	Ataxia
OMIM:156200	GRIN1	2902	HP:0001773	Short foot
OMIM:156200	GRIN1	2902	HP:0002373	Febrile seizures
OMIM:156200	GRIN1	2902	HP:0001572	Macrodontia
OMIM:156200	GRIN1	2902	HP:0100543	Cognitive impairment
OMIM:156200	GRIN1	2902	HP:0000545	Myopia
OMIM:156200	GRIN1	2902	HP:0002553	Highly arched eyebrow
OMIM:156200	GRIN1	2902	HP:0000736	Short attention span
OMIM:156200	GRIN1	2902	HP:0000337	Broad forehead
OMIM:156200	GRIN1	2902	HP:0000331	Short chin
OMIM:156200	GRIN1	2902	HP:0000278	Retrognathia
OMIM:156200	GRIN1	2902	HP:0000483	Astigmatism
OMIM:156200	GRIN1	2902	HP:0008736	Hypoplasia of penis
OMIM:156200	GRIN1	2902	HP:0010804	Tented upper lip vermilion
OMIM:156200	GRIN1	2902	HP:0000687	Widely spaced teeth
OMIM:156200	GRIN1	2902	HP:0002167	Neurological speech impairment
OMIM:156200	GRIN1	2902	HP:0008551	Microtia
OMIM:156200	GRIN1	2902	HP:0000347	Micrognathia
OMIM:156200	GRIN1	2902	HP:0000411	Protruding ear
OMIM:156200	GRIN1	2902	HP:0000219	Thin upper lip vermilion
OMIM:156200	GRIN1	2902	HP:0000280	Coarse facial features
OMIM:156200	GRIN1	2902	HP:0000505	Visual impairment
OMIM:156200	GRIN1	2902	HP:0002311	Incoordination
OMIM:156200	GRIN1	2902	HP:0004322	Short stature
OMIM:156200	GRIN1	2902	HP:0000565	Esotropia
OMIM:156200	GRIN1	2902	HP:0001252	Muscular hypotonia
OMIM:156200	GRIN1	2902	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	GRIN1	2902	HP:0001270	Motor delay
OMIM:156200	GRIN1	2902	HP:0000154	Wide mouth
OMIM:156200	GRIN1	2902	HP:0000178	Abnormality of lower lip
OMIM:156200	GRIN1	2902	HP:0001156	Brachydactyly syndrome
OMIM:156200	GRIN1	2902	HP:0000718	Aggressive behavior
OMIM:156200	GRIN1	2902	HP:0002360	Sleep disturbance
OMIM:156200	GRIN1	2902	HP:0008872	Feeding difficulties in infancy
OMIM:156200	GRIN1	2902	HP:0002200	Pseudobulbar signs
OMIM:156200	GRIN1	2902	HP:0008897	Postnatal growth retardation
OMIM:156200	GRIN1	2902	HP:0002019	Constipation
OMIM:156200	GRIN1	2902	HP:0000272	Malar flattening
OMIM:156200	GRIN2B	2904	HP:0000369	Low-set ears
OMIM:156200	GRIN2B	2904	HP:0000414	Bulbous nose
OMIM:156200	GRIN2B	2904	HP:0000378	Cupped ear
OMIM:156200	GRIN2B	2904	HP:0000252	Microcephaly
OMIM:156200	GRIN2B	2904	HP:0002463	Language impairment
OMIM:156200	GRIN2B	2904	HP:0003196	Short nose
OMIM:156200	GRIN2B	2904	HP:0000028	Cryptorchidism
OMIM:156200	GRIN2B	2904	HP:0001852	Sandal gap
OMIM:156200	GRIN2B	2904	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	GRIN2B	2904	HP:0000733	Stereotypic behavior
OMIM:156200	GRIN2B	2904	HP:0002007	Frontal bossing
OMIM:156200	GRIN2B	2904	HP:0100716	Self-injurious behavior
OMIM:156200	GRIN2B	2904	HP:0000574	Thick eyebrow
OMIM:156200	GRIN2B	2904	HP:0002714	Downturned corners of mouth
OMIM:156200	GRIN2B	2904	HP:0000194	Open mouth
OMIM:156200	GRIN2B	2904	HP:0000232	Everted lower lip vermilion
OMIM:156200	GRIN2B	2904	HP:0000006	Autosomal dominant inheritance
OMIM:156200	GRIN2B	2904	HP:0003272	Abnormality of the hip bone
OMIM:156200	GRIN2B	2904	HP:0200055	Small hand
OMIM:156200	GRIN2B	2904	HP:0000664	Synophrys
OMIM:156200	GRIN2B	2904	HP:0000448	Prominent nose
OMIM:156200	GRIN2B	2904	HP:0000540	Hypermetropia
OMIM:156200	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:156200	GRIN2B	2904	HP:0001251	Ataxia
OMIM:156200	GRIN2B	2904	HP:0001773	Short foot
OMIM:156200	GRIN2B	2904	HP:0002373	Febrile seizures
OMIM:156200	GRIN2B	2904	HP:0001572	Macrodontia
OMIM:156200	GRIN2B	2904	HP:0100543	Cognitive impairment
OMIM:156200	GRIN2B	2904	HP:0000545	Myopia
OMIM:156200	GRIN2B	2904	HP:0002553	Highly arched eyebrow
OMIM:156200	GRIN2B	2904	HP:0000736	Short attention span
OMIM:156200	GRIN2B	2904	HP:0000337	Broad forehead
OMIM:156200	GRIN2B	2904	HP:0000331	Short chin
OMIM:156200	GRIN2B	2904	HP:0000278	Retrognathia
OMIM:156200	GRIN2B	2904	HP:0000483	Astigmatism
OMIM:156200	GRIN2B	2904	HP:0008736	Hypoplasia of penis
OMIM:156200	GRIN2B	2904	HP:0010804	Tented upper lip vermilion
OMIM:156200	GRIN2B	2904	HP:0000687	Widely spaced teeth
OMIM:156200	GRIN2B	2904	HP:0002167	Neurological speech impairment
OMIM:156200	GRIN2B	2904	HP:0008551	Microtia
OMIM:156200	GRIN2B	2904	HP:0000347	Micrognathia
OMIM:156200	GRIN2B	2904	HP:0000411	Protruding ear
OMIM:156200	GRIN2B	2904	HP:0000219	Thin upper lip vermilion
OMIM:156200	GRIN2B	2904	HP:0000280	Coarse facial features
OMIM:156200	GRIN2B	2904	HP:0000505	Visual impairment
OMIM:156200	GRIN2B	2904	HP:0002311	Incoordination
OMIM:156200	GRIN2B	2904	HP:0004322	Short stature
OMIM:156200	GRIN2B	2904	HP:0000565	Esotropia
OMIM:156200	GRIN2B	2904	HP:0001252	Muscular hypotonia
OMIM:156200	GRIN2B	2904	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	GRIN2B	2904	HP:0001270	Motor delay
OMIM:156200	GRIN2B	2904	HP:0000154	Wide mouth
OMIM:156200	GRIN2B	2904	HP:0000178	Abnormality of lower lip
OMIM:156200	GRIN2B	2904	HP:0001156	Brachydactyly syndrome
OMIM:156200	GRIN2B	2904	HP:0000718	Aggressive behavior
OMIM:156200	GRIN2B	2904	HP:0002360	Sleep disturbance
OMIM:156200	GRIN2B	2904	HP:0008872	Feeding difficulties in infancy
OMIM:156200	GRIN2B	2904	HP:0002200	Pseudobulbar signs
OMIM:156200	GRIN2B	2904	HP:0008897	Postnatal growth retardation
OMIM:156200	GRIN2B	2904	HP:0002019	Constipation
OMIM:156200	GRIN2B	2904	HP:0000272	Malar flattening
OMIM:156200	DEAF1	10522	HP:0000369	Low-set ears
OMIM:156200	DEAF1	10522	HP:0000414	Bulbous nose
OMIM:156200	DEAF1	10522	HP:0000378	Cupped ear
OMIM:156200	DEAF1	10522	HP:0000252	Microcephaly
OMIM:156200	DEAF1	10522	HP:0002463	Language impairment
OMIM:156200	DEAF1	10522	HP:0003196	Short nose
OMIM:156200	DEAF1	10522	HP:0000028	Cryptorchidism
OMIM:156200	DEAF1	10522	HP:0001852	Sandal gap
OMIM:156200	DEAF1	10522	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	DEAF1	10522	HP:0000733	Stereotypic behavior
OMIM:156200	DEAF1	10522	HP:0002007	Frontal bossing
OMIM:156200	DEAF1	10522	HP:0100716	Self-injurious behavior
OMIM:156200	DEAF1	10522	HP:0000574	Thick eyebrow
OMIM:156200	DEAF1	10522	HP:0002714	Downturned corners of mouth
OMIM:156200	DEAF1	10522	HP:0000194	Open mouth
OMIM:156200	DEAF1	10522	HP:0000232	Everted lower lip vermilion
OMIM:156200	DEAF1	10522	HP:0000006	Autosomal dominant inheritance
OMIM:156200	DEAF1	10522	HP:0003272	Abnormality of the hip bone
OMIM:156200	DEAF1	10522	HP:0200055	Small hand
OMIM:156200	DEAF1	10522	HP:0000664	Synophrys
OMIM:156200	DEAF1	10522	HP:0000448	Prominent nose
OMIM:156200	DEAF1	10522	HP:0000540	Hypermetropia
OMIM:156200	DEAF1	10522	HP:0001249	Intellectual disability
OMIM:156200	DEAF1	10522	HP:0001251	Ataxia
OMIM:156200	DEAF1	10522	HP:0001773	Short foot
OMIM:156200	DEAF1	10522	HP:0002373	Febrile seizures
OMIM:156200	DEAF1	10522	HP:0001572	Macrodontia
OMIM:156200	DEAF1	10522	HP:0100543	Cognitive impairment
OMIM:156200	DEAF1	10522	HP:0000545	Myopia
OMIM:156200	DEAF1	10522	HP:0002553	Highly arched eyebrow
OMIM:156200	DEAF1	10522	HP:0000736	Short attention span
OMIM:156200	DEAF1	10522	HP:0000337	Broad forehead
OMIM:156200	DEAF1	10522	HP:0000331	Short chin
OMIM:156200	DEAF1	10522	HP:0000278	Retrognathia
OMIM:156200	DEAF1	10522	HP:0000483	Astigmatism
OMIM:156200	DEAF1	10522	HP:0008736	Hypoplasia of penis
OMIM:156200	DEAF1	10522	HP:0010804	Tented upper lip vermilion
OMIM:156200	DEAF1	10522	HP:0000687	Widely spaced teeth
OMIM:156200	DEAF1	10522	HP:0002167	Neurological speech impairment
OMIM:156200	DEAF1	10522	HP:0008551	Microtia
OMIM:156200	DEAF1	10522	HP:0000347	Micrognathia
OMIM:156200	DEAF1	10522	HP:0000411	Protruding ear
OMIM:156200	DEAF1	10522	HP:0000219	Thin upper lip vermilion
OMIM:156200	DEAF1	10522	HP:0000280	Coarse facial features
OMIM:156200	DEAF1	10522	HP:0000505	Visual impairment
OMIM:156200	DEAF1	10522	HP:0002311	Incoordination
OMIM:156200	DEAF1	10522	HP:0004322	Short stature
OMIM:156200	DEAF1	10522	HP:0000565	Esotropia
OMIM:156200	DEAF1	10522	HP:0001252	Muscular hypotonia
OMIM:156200	DEAF1	10522	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	DEAF1	10522	HP:0001270	Motor delay
OMIM:156200	DEAF1	10522	HP:0000154	Wide mouth
OMIM:156200	DEAF1	10522	HP:0000178	Abnormality of lower lip
OMIM:156200	DEAF1	10522	HP:0001156	Brachydactyly syndrome
OMIM:156200	DEAF1	10522	HP:0000718	Aggressive behavior
OMIM:156200	DEAF1	10522	HP:0002360	Sleep disturbance
OMIM:156200	DEAF1	10522	HP:0008872	Feeding difficulties in infancy
OMIM:156200	DEAF1	10522	HP:0002200	Pseudobulbar signs
OMIM:156200	DEAF1	10522	HP:0008897	Postnatal growth retardation
OMIM:156200	DEAF1	10522	HP:0002019	Constipation
OMIM:156200	DEAF1	10522	HP:0000272	Malar flattening
OMIM:156200	SYNGAP1	8831	HP:0000369	Low-set ears
OMIM:156200	SYNGAP1	8831	HP:0000414	Bulbous nose
OMIM:156200	SYNGAP1	8831	HP:0000378	Cupped ear
OMIM:156200	SYNGAP1	8831	HP:0000252	Microcephaly
OMIM:156200	SYNGAP1	8831	HP:0002463	Language impairment
OMIM:156200	SYNGAP1	8831	HP:0003196	Short nose
OMIM:156200	SYNGAP1	8831	HP:0000028	Cryptorchidism
OMIM:156200	SYNGAP1	8831	HP:0001852	Sandal gap
OMIM:156200	SYNGAP1	8831	HP:0002648	Abnormality of calvarial morphology
OMIM:156200	SYNGAP1	8831	HP:0000733	Stereotypic behavior
OMIM:156200	SYNGAP1	8831	HP:0002007	Frontal bossing
OMIM:156200	SYNGAP1	8831	HP:0100716	Self-injurious behavior
OMIM:156200	SYNGAP1	8831	HP:0000574	Thick eyebrow
OMIM:156200	SYNGAP1	8831	HP:0002714	Downturned corners of mouth
OMIM:156200	SYNGAP1	8831	HP:0000194	Open mouth
OMIM:156200	SYNGAP1	8831	HP:0000232	Everted lower lip vermilion
OMIM:156200	SYNGAP1	8831	HP:0000006	Autosomal dominant inheritance
OMIM:156200	SYNGAP1	8831	HP:0003272	Abnormality of the hip bone
OMIM:156200	SYNGAP1	8831	HP:0200055	Small hand
OMIM:156200	SYNGAP1	8831	HP:0000664	Synophrys
OMIM:156200	SYNGAP1	8831	HP:0000448	Prominent nose
OMIM:156200	SYNGAP1	8831	HP:0000540	Hypermetropia
OMIM:156200	SYNGAP1	8831	HP:0001249	Intellectual disability
OMIM:156200	SYNGAP1	8831	HP:0001251	Ataxia
OMIM:156200	SYNGAP1	8831	HP:0001773	Short foot
OMIM:156200	SYNGAP1	8831	HP:0002373	Febrile seizures
OMIM:156200	SYNGAP1	8831	HP:0001572	Macrodontia
OMIM:156200	SYNGAP1	8831	HP:0100543	Cognitive impairment
OMIM:156200	SYNGAP1	8831	HP:0000545	Myopia
OMIM:156200	SYNGAP1	8831	HP:0002553	Highly arched eyebrow
OMIM:156200	SYNGAP1	8831	HP:0000736	Short attention span
OMIM:156200	SYNGAP1	8831	HP:0000337	Broad forehead
OMIM:156200	SYNGAP1	8831	HP:0000331	Short chin
OMIM:156200	SYNGAP1	8831	HP:0000278	Retrognathia
OMIM:156200	SYNGAP1	8831	HP:0000483	Astigmatism
OMIM:156200	SYNGAP1	8831	HP:0008736	Hypoplasia of penis
OMIM:156200	SYNGAP1	8831	HP:0010804	Tented upper lip vermilion
OMIM:156200	SYNGAP1	8831	HP:0000687	Widely spaced teeth
OMIM:156200	SYNGAP1	8831	HP:0002167	Neurological speech impairment
OMIM:156200	SYNGAP1	8831	HP:0008551	Microtia
OMIM:156200	SYNGAP1	8831	HP:0000347	Micrognathia
OMIM:156200	SYNGAP1	8831	HP:0000411	Protruding ear
OMIM:156200	SYNGAP1	8831	HP:0000219	Thin upper lip vermilion
OMIM:156200	SYNGAP1	8831	HP:0000280	Coarse facial features
OMIM:156200	SYNGAP1	8831	HP:0000505	Visual impairment
OMIM:156200	SYNGAP1	8831	HP:0002311	Incoordination
OMIM:156200	SYNGAP1	8831	HP:0004322	Short stature
OMIM:156200	SYNGAP1	8831	HP:0000565	Esotropia
OMIM:156200	SYNGAP1	8831	HP:0001252	Muscular hypotonia
OMIM:156200	SYNGAP1	8831	HP:0004209	Clinodactyly of the 5th finger
OMIM:156200	SYNGAP1	8831	HP:0001270	Motor delay
OMIM:156200	SYNGAP1	8831	HP:0000154	Wide mouth
OMIM:156200	SYNGAP1	8831	HP:0000178	Abnormality of lower lip
OMIM:156200	SYNGAP1	8831	HP:0001156	Brachydactyly syndrome
OMIM:156200	SYNGAP1	8831	HP:0000718	Aggressive behavior
OMIM:156200	SYNGAP1	8831	HP:0002360	Sleep disturbance
OMIM:156200	SYNGAP1	8831	HP:0008872	Feeding difficulties in infancy
OMIM:156200	SYNGAP1	8831	HP:0002200	Pseudobulbar signs
OMIM:156200	SYNGAP1	8831	HP:0008897	Postnatal growth retardation
OMIM:156200	SYNGAP1	8831	HP:0002019	Constipation
OMIM:156200	SYNGAP1	8831	HP:0000272	Malar flattening
OMIM:612304	PROC	5624	HP:0002204	Pulmonary embolism
OMIM:612304	PROC	5624	HP:0003828	Variable expressivity
OMIM:612304	PROC	5624	HP:0001263	Global developmental delay
OMIM:612304	PROC	5624	HP:0000007	Autosomal recessive inheritance
OMIM:612304	PROC	5624	HP:0001250	Seizures
OMIM:612304	PROC	5624	HP:0000979	Purpura
OMIM:605751	SCN2A	6326	HP:0002076	Migraine
OMIM:605751	SCN2A	6326	HP:0003829	Incomplete penetrance
OMIM:605751	SCN2A	6326	HP:0002197	Generalized seizures
OMIM:605751	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:605751	KCNQ2	3785	HP:0002076	Migraine
OMIM:605751	KCNQ2	3785	HP:0003829	Incomplete penetrance
OMIM:605751	KCNQ2	3785	HP:0002197	Generalized seizures
OMIM:605751	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:605751	KCNQ3	3786	HP:0002076	Migraine
OMIM:605751	KCNQ3	3786	HP:0003829	Incomplete penetrance
OMIM:605751	KCNQ3	3786	HP:0002197	Generalized seizures
OMIM:605751	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:605751	PRRT2	112476	HP:0002076	Migraine
OMIM:605751	PRRT2	112476	HP:0003829	Incomplete penetrance
OMIM:605751	PRRT2	112476	HP:0002197	Generalized seizures
OMIM:605751	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:609310	PMS1	5378	HP:0000006	Autosomal dominant inheritance
OMIM:609310	MLH1	4292	HP:0000006	Autosomal dominant inheritance
OMIM:609310	KRAS	3845	HP:0000006	Autosomal dominant inheritance
OMIM:609310	TGFBR2	7048	HP:0000006	Autosomal dominant inheritance
OMIM:609310	EPCAM	4072	HP:0000006	Autosomal dominant inheritance
OMIM:609310	PIK3CA	5290	HP:0000006	Autosomal dominant inheritance
OMIM:609310	MSH6	2956	HP:0000006	Autosomal dominant inheritance
OMIM:609310	RPS20	6224	HP:0000006	Autosomal dominant inheritance
OMIM:609310	BMPR1A	657	HP:0000006	Autosomal dominant inheritance
OMIM:609310	PMS2	5395	HP:0000006	Autosomal dominant inheritance
OMIM:609310	MSH2	4436	HP:0000006	Autosomal dominant inheritance
OMIM:609310	MLH3	27030	HP:0000006	Autosomal dominant inheritance
OMIM:609310	LRRFIP2	9209	HP:0000006	Autosomal dominant inheritance
OMIM:614706	GRN	2896	HP:0001272	Cerebellar atrophy
OMIM:614706	GRN	2896	HP:0002123	Generalized myoclonic seizures
OMIM:614706	GRN	2896	HP:0000556	Retinal dystrophy
OMIM:614706	GRN	2896	HP:0000505	Visual impairment
OMIM:614706	GRN	2896	HP:0000648	Optic atrophy
OMIM:614706	GRN	2896	HP:0001251	Ataxia
OMIM:614706	GRN	2896	HP:0000007	Autosomal recessive inheritance
OMIM:614706	GRN	2896	HP:0001268	Mental deterioration
OMIM:614706	GRN	2896	HP:0002353	EEG abnormality
OMIM:614706	GRN	2896	HP:0003678	Rapidly progressive
OMIM:608800	TSPYL1	7259	HP:0001315	Reduced tendon reflexes
OMIM:608800	TSPYL1	7259	HP:0004305	Involuntary movements
OMIM:608800	TSPYL1	7259	HP:0002270	Abnormality of the autonomic nervous system
OMIM:608800	TSPYL1	7259	HP:0000597	Ophthalmoparesis
OMIM:608800	TSPYL1	7259	HP:0002099	Asthma
OMIM:608800	TSPYL1	7259	HP:0001608	Abnormality of the voice
OMIM:608800	TSPYL1	7259	HP:0000007	Autosomal recessive inheritance
OMIM:608800	TSPYL1	7259	HP:0002104	Apnea
OMIM:608800	TSPYL1	7259	HP:0000046	Scrotal hypoplasia
OMIM:608800	TSPYL1	7259	HP:0000028	Cryptorchidism
OMIM:608800	TSPYL1	7259	HP:0008736	Hypoplasia of penis
OMIM:608800	TSPYL1	7259	HP:0008872	Feeding difficulties in infancy
OMIM:608800	TSPYL1	7259	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:608800	TSPYL1	7259	HP:0002020	Gastroesophageal reflux
OMIM:608800	TSPYL1	7259	HP:0001510	Growth delay
OMIM:608800	TSPYL1	7259	HP:0000062	Ambiguous genitalia
OMIM:608800	TSPYL1	7259	HP:0001645	Sudden cardiac death
OMIM:608800	TSPYL1	7259	HP:0001308	Tongue fasciculations
OMIM:608800	TSPYL1	7259	HP:0001662	Bradycardia
OMIM:608800	TSPYL1	7259	HP:0000478	Abnormality of the eye
OMIM:608800	TSPYL1	7259	HP:0008715	Testicular dysgenesis
OMIM:105650	TSR2	90121	HP:0001894	Thrombocytosis
OMIM:105650	TSR2	90121	HP:0003593	Infantile onset
OMIM:105650	TSR2	90121	HP:0000457	Depressed nasal ridge
OMIM:105650	TSR2	90121	HP:0000494	Downslanted palpebral fissures
OMIM:105650	TSR2	90121	HP:0009778	Short thumb
OMIM:105650	TSR2	90121	HP:0000774	Narrow chest
OMIM:105650	TSR2	90121	HP:0000347	Micrognathia
OMIM:105650	TSR2	90121	HP:0001680	Coarctation of aorta
OMIM:105650	TSR2	90121	HP:0000218	High palate
OMIM:105650	TSR2	90121	HP:0000470	Short neck
OMIM:105650	TSR2	90121	HP:0001249	Intellectual disability
OMIM:105650	TSR2	90121	HP:0001622	Premature birth
OMIM:105650	TSR2	90121	HP:0000252	Microcephaly
OMIM:105650	TSR2	90121	HP:0000946	Hypoplastic ilia
OMIM:105650	TSR2	90121	HP:0001896	Reticulocytopenia
OMIM:105650	TSR2	90121	HP:0004322	Short stature
OMIM:105650	TSR2	90121	HP:0001631	Atria septal defect
OMIM:105650	TSR2	90121	HP:0001875	Neutropenia
OMIM:105650	TSR2	90121	HP:0001635	Congestive heart failure
OMIM:105650	TSR2	90121	HP:0001629	Ventricular septal defect
OMIM:105650	TSR2	90121	HP:0000878	11 pairs of ribs
OMIM:105650	TSR2	90121	HP:0000278	Retrognathia
OMIM:105650	TSR2	90121	HP:0000006	Autosomal dominant inheritance
OMIM:105650	TSR2	90121	HP:0001199	Triphalangeal thumb
OMIM:105650	TSR2	90121	HP:0002669	Osteosarcoma
OMIM:105650	TSR2	90121	HP:0002863	Myelodysplasia
OMIM:105650	TSR2	90121	HP:0000486	Strabismus
OMIM:105650	TSR2	90121	HP:0002984	Hypoplasia of the radius
OMIM:105650	TSR2	90121	HP:0002697	Parietal foramina
OMIM:105650	TSR2	90121	HP:0000204	Cleft upper lip
OMIM:105650	TSR2	90121	HP:0001511	Intrauterine growth retardation
OMIM:105650	TSR2	90121	HP:0000465	Webbed neck
OMIM:105650	TSR2	90121	HP:0001508	Failure to thrive
OMIM:105650	TSR2	90121	HP:0000980	Pallor
OMIM:105650	TSR2	90121	HP:0000316	Hypertelorism
OMIM:105650	TSR2	90121	HP:0009777	Absent thumb
OMIM:105650	TSR2	90121	HP:0000175	Cleft palate
OMIM:105650	TSR2	90121	HP:0000270	Delayed cranial suture closure
OMIM:105650	TSR2	90121	HP:0001873	Thrombocytopenia
OMIM:105650	RPS17	6218	HP:0001894	Thrombocytosis
OMIM:105650	RPS17	6218	HP:0003593	Infantile onset
OMIM:105650	RPS17	6218	HP:0000457	Depressed nasal ridge
OMIM:105650	RPS17	6218	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPS17	6218	HP:0009778	Short thumb
OMIM:105650	RPS17	6218	HP:0000774	Narrow chest
OMIM:105650	RPS17	6218	HP:0000347	Micrognathia
OMIM:105650	RPS17	6218	HP:0001680	Coarctation of aorta
OMIM:105650	RPS17	6218	HP:0000218	High palate
OMIM:105650	RPS17	6218	HP:0000470	Short neck
OMIM:105650	RPS17	6218	HP:0001249	Intellectual disability
OMIM:105650	RPS17	6218	HP:0001622	Premature birth
OMIM:105650	RPS17	6218	HP:0000252	Microcephaly
OMIM:105650	RPS17	6218	HP:0000946	Hypoplastic ilia
OMIM:105650	RPS17	6218	HP:0001896	Reticulocytopenia
OMIM:105650	RPS17	6218	HP:0004322	Short stature
OMIM:105650	RPS17	6218	HP:0001631	Atria septal defect
OMIM:105650	RPS17	6218	HP:0001875	Neutropenia
OMIM:105650	RPS17	6218	HP:0001635	Congestive heart failure
OMIM:105650	RPS17	6218	HP:0001629	Ventricular septal defect
OMIM:105650	RPS17	6218	HP:0000878	11 pairs of ribs
OMIM:105650	RPS17	6218	HP:0000278	Retrognathia
OMIM:105650	RPS17	6218	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPS17	6218	HP:0001199	Triphalangeal thumb
OMIM:105650	RPS17	6218	HP:0002669	Osteosarcoma
OMIM:105650	RPS17	6218	HP:0002863	Myelodysplasia
OMIM:105650	RPS17	6218	HP:0000486	Strabismus
OMIM:105650	RPS17	6218	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPS17	6218	HP:0002697	Parietal foramina
OMIM:105650	RPS17	6218	HP:0000204	Cleft upper lip
OMIM:105650	RPS17	6218	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPS17	6218	HP:0000465	Webbed neck
OMIM:105650	RPS17	6218	HP:0001508	Failure to thrive
OMIM:105650	RPS17	6218	HP:0000980	Pallor
OMIM:105650	RPS17	6218	HP:0000316	Hypertelorism
OMIM:105650	RPS17	6218	HP:0009777	Absent thumb
OMIM:105650	RPS17	6218	HP:0000175	Cleft palate
OMIM:105650	RPS17	6218	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPS17	6218	HP:0001873	Thrombocytopenia
OMIM:105650	RPL26	6154	HP:0001894	Thrombocytosis
OMIM:105650	RPL26	6154	HP:0003593	Infantile onset
OMIM:105650	RPL26	6154	HP:0000457	Depressed nasal ridge
OMIM:105650	RPL26	6154	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPL26	6154	HP:0009778	Short thumb
OMIM:105650	RPL26	6154	HP:0000774	Narrow chest
OMIM:105650	RPL26	6154	HP:0000347	Micrognathia
OMIM:105650	RPL26	6154	HP:0001680	Coarctation of aorta
OMIM:105650	RPL26	6154	HP:0000218	High palate
OMIM:105650	RPL26	6154	HP:0000470	Short neck
OMIM:105650	RPL26	6154	HP:0001249	Intellectual disability
OMIM:105650	RPL26	6154	HP:0001622	Premature birth
OMIM:105650	RPL26	6154	HP:0000252	Microcephaly
OMIM:105650	RPL26	6154	HP:0000946	Hypoplastic ilia
OMIM:105650	RPL26	6154	HP:0001896	Reticulocytopenia
OMIM:105650	RPL26	6154	HP:0004322	Short stature
OMIM:105650	RPL26	6154	HP:0001631	Atria septal defect
OMIM:105650	RPL26	6154	HP:0001875	Neutropenia
OMIM:105650	RPL26	6154	HP:0001635	Congestive heart failure
OMIM:105650	RPL26	6154	HP:0001629	Ventricular septal defect
OMIM:105650	RPL26	6154	HP:0000878	11 pairs of ribs
OMIM:105650	RPL26	6154	HP:0000278	Retrognathia
OMIM:105650	RPL26	6154	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPL26	6154	HP:0001199	Triphalangeal thumb
OMIM:105650	RPL26	6154	HP:0002669	Osteosarcoma
OMIM:105650	RPL26	6154	HP:0002863	Myelodysplasia
OMIM:105650	RPL26	6154	HP:0000486	Strabismus
OMIM:105650	RPL26	6154	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPL26	6154	HP:0002697	Parietal foramina
OMIM:105650	RPL26	6154	HP:0000204	Cleft upper lip
OMIM:105650	RPL26	6154	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPL26	6154	HP:0000465	Webbed neck
OMIM:105650	RPL26	6154	HP:0001508	Failure to thrive
OMIM:105650	RPL26	6154	HP:0000980	Pallor
OMIM:105650	RPL26	6154	HP:0000316	Hypertelorism
OMIM:105650	RPL26	6154	HP:0009777	Absent thumb
OMIM:105650	RPL26	6154	HP:0000175	Cleft palate
OMIM:105650	RPL26	6154	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPL26	6154	HP:0001873	Thrombocytopenia
OMIM:105650	RPL5	6125	HP:0001894	Thrombocytosis
OMIM:105650	RPL5	6125	HP:0003593	Infantile onset
OMIM:105650	RPL5	6125	HP:0000457	Depressed nasal ridge
OMIM:105650	RPL5	6125	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPL5	6125	HP:0009778	Short thumb
OMIM:105650	RPL5	6125	HP:0000774	Narrow chest
OMIM:105650	RPL5	6125	HP:0000347	Micrognathia
OMIM:105650	RPL5	6125	HP:0001680	Coarctation of aorta
OMIM:105650	RPL5	6125	HP:0000218	High palate
OMIM:105650	RPL5	6125	HP:0000470	Short neck
OMIM:105650	RPL5	6125	HP:0001249	Intellectual disability
OMIM:105650	RPL5	6125	HP:0001622	Premature birth
OMIM:105650	RPL5	6125	HP:0000252	Microcephaly
OMIM:105650	RPL5	6125	HP:0000946	Hypoplastic ilia
OMIM:105650	RPL5	6125	HP:0001896	Reticulocytopenia
OMIM:105650	RPL5	6125	HP:0004322	Short stature
OMIM:105650	RPL5	6125	HP:0001631	Atria septal defect
OMIM:105650	RPL5	6125	HP:0001875	Neutropenia
OMIM:105650	RPL5	6125	HP:0001635	Congestive heart failure
OMIM:105650	RPL5	6125	HP:0001629	Ventricular septal defect
OMIM:105650	RPL5	6125	HP:0000878	11 pairs of ribs
OMIM:105650	RPL5	6125	HP:0000278	Retrognathia
OMIM:105650	RPL5	6125	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPL5	6125	HP:0001199	Triphalangeal thumb
OMIM:105650	RPL5	6125	HP:0002669	Osteosarcoma
OMIM:105650	RPL5	6125	HP:0002863	Myelodysplasia
OMIM:105650	RPL5	6125	HP:0000486	Strabismus
OMIM:105650	RPL5	6125	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPL5	6125	HP:0002697	Parietal foramina
OMIM:105650	RPL5	6125	HP:0000204	Cleft upper lip
OMIM:105650	RPL5	6125	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPL5	6125	HP:0000465	Webbed neck
OMIM:105650	RPL5	6125	HP:0001508	Failure to thrive
OMIM:105650	RPL5	6125	HP:0000980	Pallor
OMIM:105650	RPL5	6125	HP:0000316	Hypertelorism
OMIM:105650	RPL5	6125	HP:0009777	Absent thumb
OMIM:105650	RPL5	6125	HP:0000175	Cleft palate
OMIM:105650	RPL5	6125	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPL5	6125	HP:0001873	Thrombocytopenia
OMIM:105650	RPS19	6223	HP:0001894	Thrombocytosis
OMIM:105650	RPS19	6223	HP:0003593	Infantile onset
OMIM:105650	RPS19	6223	HP:0000457	Depressed nasal ridge
OMIM:105650	RPS19	6223	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPS19	6223	HP:0009778	Short thumb
OMIM:105650	RPS19	6223	HP:0000774	Narrow chest
OMIM:105650	RPS19	6223	HP:0000347	Micrognathia
OMIM:105650	RPS19	6223	HP:0001680	Coarctation of aorta
OMIM:105650	RPS19	6223	HP:0000218	High palate
OMIM:105650	RPS19	6223	HP:0000470	Short neck
OMIM:105650	RPS19	6223	HP:0001249	Intellectual disability
OMIM:105650	RPS19	6223	HP:0001622	Premature birth
OMIM:105650	RPS19	6223	HP:0000252	Microcephaly
OMIM:105650	RPS19	6223	HP:0000946	Hypoplastic ilia
OMIM:105650	RPS19	6223	HP:0001896	Reticulocytopenia
OMIM:105650	RPS19	6223	HP:0004322	Short stature
OMIM:105650	RPS19	6223	HP:0001631	Atria septal defect
OMIM:105650	RPS19	6223	HP:0001875	Neutropenia
OMIM:105650	RPS19	6223	HP:0001635	Congestive heart failure
OMIM:105650	RPS19	6223	HP:0001629	Ventricular septal defect
OMIM:105650	RPS19	6223	HP:0000878	11 pairs of ribs
OMIM:105650	RPS19	6223	HP:0000278	Retrognathia
OMIM:105650	RPS19	6223	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPS19	6223	HP:0001199	Triphalangeal thumb
OMIM:105650	RPS19	6223	HP:0002669	Osteosarcoma
OMIM:105650	RPS19	6223	HP:0002863	Myelodysplasia
OMIM:105650	RPS19	6223	HP:0000486	Strabismus
OMIM:105650	RPS19	6223	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPS19	6223	HP:0002697	Parietal foramina
OMIM:105650	RPS19	6223	HP:0000204	Cleft upper lip
OMIM:105650	RPS19	6223	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPS19	6223	HP:0000465	Webbed neck
OMIM:105650	RPS19	6223	HP:0001508	Failure to thrive
OMIM:105650	RPS19	6223	HP:0000980	Pallor
OMIM:105650	RPS19	6223	HP:0000316	Hypertelorism
OMIM:105650	RPS19	6223	HP:0009777	Absent thumb
OMIM:105650	RPS19	6223	HP:0000175	Cleft palate
OMIM:105650	RPS19	6223	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPS19	6223	HP:0001873	Thrombocytopenia
OMIM:105650	RPS24	6229	HP:0001894	Thrombocytosis
OMIM:105650	RPS24	6229	HP:0003593	Infantile onset
OMIM:105650	RPS24	6229	HP:0000457	Depressed nasal ridge
OMIM:105650	RPS24	6229	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPS24	6229	HP:0009778	Short thumb
OMIM:105650	RPS24	6229	HP:0000774	Narrow chest
OMIM:105650	RPS24	6229	HP:0000347	Micrognathia
OMIM:105650	RPS24	6229	HP:0001680	Coarctation of aorta
OMIM:105650	RPS24	6229	HP:0000218	High palate
OMIM:105650	RPS24	6229	HP:0000470	Short neck
OMIM:105650	RPS24	6229	HP:0001249	Intellectual disability
OMIM:105650	RPS24	6229	HP:0001622	Premature birth
OMIM:105650	RPS24	6229	HP:0000252	Microcephaly
OMIM:105650	RPS24	6229	HP:0000946	Hypoplastic ilia
OMIM:105650	RPS24	6229	HP:0001896	Reticulocytopenia
OMIM:105650	RPS24	6229	HP:0004322	Short stature
OMIM:105650	RPS24	6229	HP:0001631	Atria septal defect
OMIM:105650	RPS24	6229	HP:0001875	Neutropenia
OMIM:105650	RPS24	6229	HP:0001635	Congestive heart failure
OMIM:105650	RPS24	6229	HP:0001629	Ventricular septal defect
OMIM:105650	RPS24	6229	HP:0000878	11 pairs of ribs
OMIM:105650	RPS24	6229	HP:0000278	Retrognathia
OMIM:105650	RPS24	6229	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPS24	6229	HP:0001199	Triphalangeal thumb
OMIM:105650	RPS24	6229	HP:0002669	Osteosarcoma
OMIM:105650	RPS24	6229	HP:0002863	Myelodysplasia
OMIM:105650	RPS24	6229	HP:0000486	Strabismus
OMIM:105650	RPS24	6229	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPS24	6229	HP:0002697	Parietal foramina
OMIM:105650	RPS24	6229	HP:0000204	Cleft upper lip
OMIM:105650	RPS24	6229	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPS24	6229	HP:0000465	Webbed neck
OMIM:105650	RPS24	6229	HP:0001508	Failure to thrive
OMIM:105650	RPS24	6229	HP:0000980	Pallor
OMIM:105650	RPS24	6229	HP:0000316	Hypertelorism
OMIM:105650	RPS24	6229	HP:0009777	Absent thumb
OMIM:105650	RPS24	6229	HP:0000175	Cleft palate
OMIM:105650	RPS24	6229	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPS24	6229	HP:0001873	Thrombocytopenia
OMIM:105650	RPL35A	6165	HP:0001894	Thrombocytosis
OMIM:105650	RPL35A	6165	HP:0003593	Infantile onset
OMIM:105650	RPL35A	6165	HP:0000457	Depressed nasal ridge
OMIM:105650	RPL35A	6165	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPL35A	6165	HP:0009778	Short thumb
OMIM:105650	RPL35A	6165	HP:0000774	Narrow chest
OMIM:105650	RPL35A	6165	HP:0000347	Micrognathia
OMIM:105650	RPL35A	6165	HP:0001680	Coarctation of aorta
OMIM:105650	RPL35A	6165	HP:0000218	High palate
OMIM:105650	RPL35A	6165	HP:0000470	Short neck
OMIM:105650	RPL35A	6165	HP:0001249	Intellectual disability
OMIM:105650	RPL35A	6165	HP:0001622	Premature birth
OMIM:105650	RPL35A	6165	HP:0000252	Microcephaly
OMIM:105650	RPL35A	6165	HP:0000946	Hypoplastic ilia
OMIM:105650	RPL35A	6165	HP:0001896	Reticulocytopenia
OMIM:105650	RPL35A	6165	HP:0004322	Short stature
OMIM:105650	RPL35A	6165	HP:0001631	Atria septal defect
OMIM:105650	RPL35A	6165	HP:0001875	Neutropenia
OMIM:105650	RPL35A	6165	HP:0001635	Congestive heart failure
OMIM:105650	RPL35A	6165	HP:0001629	Ventricular septal defect
OMIM:105650	RPL35A	6165	HP:0000878	11 pairs of ribs
OMIM:105650	RPL35A	6165	HP:0000278	Retrognathia
OMIM:105650	RPL35A	6165	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPL35A	6165	HP:0001199	Triphalangeal thumb
OMIM:105650	RPL35A	6165	HP:0002669	Osteosarcoma
OMIM:105650	RPL35A	6165	HP:0002863	Myelodysplasia
OMIM:105650	RPL35A	6165	HP:0000486	Strabismus
OMIM:105650	RPL35A	6165	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPL35A	6165	HP:0002697	Parietal foramina
OMIM:105650	RPL35A	6165	HP:0000204	Cleft upper lip
OMIM:105650	RPL35A	6165	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPL35A	6165	HP:0000465	Webbed neck
OMIM:105650	RPL35A	6165	HP:0001508	Failure to thrive
OMIM:105650	RPL35A	6165	HP:0000980	Pallor
OMIM:105650	RPL35A	6165	HP:0000316	Hypertelorism
OMIM:105650	RPL35A	6165	HP:0009777	Absent thumb
OMIM:105650	RPL35A	6165	HP:0000175	Cleft palate
OMIM:105650	RPL35A	6165	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPL35A	6165	HP:0001873	Thrombocytopenia
OMIM:105650	RPL11	6135	HP:0001894	Thrombocytosis
OMIM:105650	RPL11	6135	HP:0003593	Infantile onset
OMIM:105650	RPL11	6135	HP:0000457	Depressed nasal ridge
OMIM:105650	RPL11	6135	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPL11	6135	HP:0009778	Short thumb
OMIM:105650	RPL11	6135	HP:0000774	Narrow chest
OMIM:105650	RPL11	6135	HP:0000347	Micrognathia
OMIM:105650	RPL11	6135	HP:0001680	Coarctation of aorta
OMIM:105650	RPL11	6135	HP:0000218	High palate
OMIM:105650	RPL11	6135	HP:0000470	Short neck
OMIM:105650	RPL11	6135	HP:0001249	Intellectual disability
OMIM:105650	RPL11	6135	HP:0001622	Premature birth
OMIM:105650	RPL11	6135	HP:0000252	Microcephaly
OMIM:105650	RPL11	6135	HP:0000946	Hypoplastic ilia
OMIM:105650	RPL11	6135	HP:0001896	Reticulocytopenia
OMIM:105650	RPL11	6135	HP:0004322	Short stature
OMIM:105650	RPL11	6135	HP:0001631	Atria septal defect
OMIM:105650	RPL11	6135	HP:0001875	Neutropenia
OMIM:105650	RPL11	6135	HP:0001635	Congestive heart failure
OMIM:105650	RPL11	6135	HP:0001629	Ventricular septal defect
OMIM:105650	RPL11	6135	HP:0000878	11 pairs of ribs
OMIM:105650	RPL11	6135	HP:0000278	Retrognathia
OMIM:105650	RPL11	6135	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPL11	6135	HP:0001199	Triphalangeal thumb
OMIM:105650	RPL11	6135	HP:0002669	Osteosarcoma
OMIM:105650	RPL11	6135	HP:0002863	Myelodysplasia
OMIM:105650	RPL11	6135	HP:0000486	Strabismus
OMIM:105650	RPL11	6135	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPL11	6135	HP:0002697	Parietal foramina
OMIM:105650	RPL11	6135	HP:0000204	Cleft upper lip
OMIM:105650	RPL11	6135	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPL11	6135	HP:0000465	Webbed neck
OMIM:105650	RPL11	6135	HP:0001508	Failure to thrive
OMIM:105650	RPL11	6135	HP:0000980	Pallor
OMIM:105650	RPL11	6135	HP:0000316	Hypertelorism
OMIM:105650	RPL11	6135	HP:0009777	Absent thumb
OMIM:105650	RPL11	6135	HP:0000175	Cleft palate
OMIM:105650	RPL11	6135	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPL11	6135	HP:0001873	Thrombocytopenia
OMIM:105650	RPS26	6231	HP:0001894	Thrombocytosis
OMIM:105650	RPS26	6231	HP:0003593	Infantile onset
OMIM:105650	RPS26	6231	HP:0000457	Depressed nasal ridge
OMIM:105650	RPS26	6231	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPS26	6231	HP:0009778	Short thumb
OMIM:105650	RPS26	6231	HP:0000774	Narrow chest
OMIM:105650	RPS26	6231	HP:0000347	Micrognathia
OMIM:105650	RPS26	6231	HP:0001680	Coarctation of aorta
OMIM:105650	RPS26	6231	HP:0000218	High palate
OMIM:105650	RPS26	6231	HP:0000470	Short neck
OMIM:105650	RPS26	6231	HP:0001249	Intellectual disability
OMIM:105650	RPS26	6231	HP:0001622	Premature birth
OMIM:105650	RPS26	6231	HP:0000252	Microcephaly
OMIM:105650	RPS26	6231	HP:0000946	Hypoplastic ilia
OMIM:105650	RPS26	6231	HP:0001896	Reticulocytopenia
OMIM:105650	RPS26	6231	HP:0004322	Short stature
OMIM:105650	RPS26	6231	HP:0001631	Atria septal defect
OMIM:105650	RPS26	6231	HP:0001875	Neutropenia
OMIM:105650	RPS26	6231	HP:0001635	Congestive heart failure
OMIM:105650	RPS26	6231	HP:0001629	Ventricular septal defect
OMIM:105650	RPS26	6231	HP:0000878	11 pairs of ribs
OMIM:105650	RPS26	6231	HP:0000278	Retrognathia
OMIM:105650	RPS26	6231	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPS26	6231	HP:0001199	Triphalangeal thumb
OMIM:105650	RPS26	6231	HP:0002669	Osteosarcoma
OMIM:105650	RPS26	6231	HP:0002863	Myelodysplasia
OMIM:105650	RPS26	6231	HP:0000486	Strabismus
OMIM:105650	RPS26	6231	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPS26	6231	HP:0002697	Parietal foramina
OMIM:105650	RPS26	6231	HP:0000204	Cleft upper lip
OMIM:105650	RPS26	6231	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPS26	6231	HP:0000465	Webbed neck
OMIM:105650	RPS26	6231	HP:0001508	Failure to thrive
OMIM:105650	RPS26	6231	HP:0000980	Pallor
OMIM:105650	RPS26	6231	HP:0000316	Hypertelorism
OMIM:105650	RPS26	6231	HP:0009777	Absent thumb
OMIM:105650	RPS26	6231	HP:0000175	Cleft palate
OMIM:105650	RPS26	6231	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPS26	6231	HP:0001873	Thrombocytopenia
OMIM:105650	RPS7	6201	HP:0001894	Thrombocytosis
OMIM:105650	RPS7	6201	HP:0003593	Infantile onset
OMIM:105650	RPS7	6201	HP:0000457	Depressed nasal ridge
OMIM:105650	RPS7	6201	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPS7	6201	HP:0009778	Short thumb
OMIM:105650	RPS7	6201	HP:0000774	Narrow chest
OMIM:105650	RPS7	6201	HP:0000347	Micrognathia
OMIM:105650	RPS7	6201	HP:0001680	Coarctation of aorta
OMIM:105650	RPS7	6201	HP:0000218	High palate
OMIM:105650	RPS7	6201	HP:0000470	Short neck
OMIM:105650	RPS7	6201	HP:0001249	Intellectual disability
OMIM:105650	RPS7	6201	HP:0001622	Premature birth
OMIM:105650	RPS7	6201	HP:0000252	Microcephaly
OMIM:105650	RPS7	6201	HP:0000946	Hypoplastic ilia
OMIM:105650	RPS7	6201	HP:0001896	Reticulocytopenia
OMIM:105650	RPS7	6201	HP:0004322	Short stature
OMIM:105650	RPS7	6201	HP:0001631	Atria septal defect
OMIM:105650	RPS7	6201	HP:0001875	Neutropenia
OMIM:105650	RPS7	6201	HP:0001635	Congestive heart failure
OMIM:105650	RPS7	6201	HP:0001629	Ventricular septal defect
OMIM:105650	RPS7	6201	HP:0000878	11 pairs of ribs
OMIM:105650	RPS7	6201	HP:0000278	Retrognathia
OMIM:105650	RPS7	6201	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPS7	6201	HP:0001199	Triphalangeal thumb
OMIM:105650	RPS7	6201	HP:0002669	Osteosarcoma
OMIM:105650	RPS7	6201	HP:0002863	Myelodysplasia
OMIM:105650	RPS7	6201	HP:0000486	Strabismus
OMIM:105650	RPS7	6201	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPS7	6201	HP:0002697	Parietal foramina
OMIM:105650	RPS7	6201	HP:0000204	Cleft upper lip
OMIM:105650	RPS7	6201	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPS7	6201	HP:0000465	Webbed neck
OMIM:105650	RPS7	6201	HP:0001508	Failure to thrive
OMIM:105650	RPS7	6201	HP:0000980	Pallor
OMIM:105650	RPS7	6201	HP:0000316	Hypertelorism
OMIM:105650	RPS7	6201	HP:0009777	Absent thumb
OMIM:105650	RPS7	6201	HP:0000175	Cleft palate
OMIM:105650	RPS7	6201	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPS7	6201	HP:0001873	Thrombocytopenia
OMIM:105650	RPL15	6138	HP:0001894	Thrombocytosis
OMIM:105650	RPL15	6138	HP:0003593	Infantile onset
OMIM:105650	RPL15	6138	HP:0000457	Depressed nasal ridge
OMIM:105650	RPL15	6138	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPL15	6138	HP:0009778	Short thumb
OMIM:105650	RPL15	6138	HP:0000774	Narrow chest
OMIM:105650	RPL15	6138	HP:0000347	Micrognathia
OMIM:105650	RPL15	6138	HP:0001680	Coarctation of aorta
OMIM:105650	RPL15	6138	HP:0000218	High palate
OMIM:105650	RPL15	6138	HP:0000470	Short neck
OMIM:105650	RPL15	6138	HP:0001249	Intellectual disability
OMIM:105650	RPL15	6138	HP:0001622	Premature birth
OMIM:105650	RPL15	6138	HP:0000252	Microcephaly
OMIM:105650	RPL15	6138	HP:0000946	Hypoplastic ilia
OMIM:105650	RPL15	6138	HP:0001896	Reticulocytopenia
OMIM:105650	RPL15	6138	HP:0004322	Short stature
OMIM:105650	RPL15	6138	HP:0001631	Atria septal defect
OMIM:105650	RPL15	6138	HP:0001875	Neutropenia
OMIM:105650	RPL15	6138	HP:0001635	Congestive heart failure
OMIM:105650	RPL15	6138	HP:0001629	Ventricular septal defect
OMIM:105650	RPL15	6138	HP:0000878	11 pairs of ribs
OMIM:105650	RPL15	6138	HP:0000278	Retrognathia
OMIM:105650	RPL15	6138	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPL15	6138	HP:0001199	Triphalangeal thumb
OMIM:105650	RPL15	6138	HP:0002669	Osteosarcoma
OMIM:105650	RPL15	6138	HP:0002863	Myelodysplasia
OMIM:105650	RPL15	6138	HP:0000486	Strabismus
OMIM:105650	RPL15	6138	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPL15	6138	HP:0002697	Parietal foramina
OMIM:105650	RPL15	6138	HP:0000204	Cleft upper lip
OMIM:105650	RPL15	6138	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPL15	6138	HP:0000465	Webbed neck
OMIM:105650	RPL15	6138	HP:0001508	Failure to thrive
OMIM:105650	RPL15	6138	HP:0000980	Pallor
OMIM:105650	RPL15	6138	HP:0000316	Hypertelorism
OMIM:105650	RPL15	6138	HP:0009777	Absent thumb
OMIM:105650	RPL15	6138	HP:0000175	Cleft palate
OMIM:105650	RPL15	6138	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPL15	6138	HP:0001873	Thrombocytopenia
OMIM:105650	RPS28	6234	HP:0001894	Thrombocytosis
OMIM:105650	RPS28	6234	HP:0003593	Infantile onset
OMIM:105650	RPS28	6234	HP:0000457	Depressed nasal ridge
OMIM:105650	RPS28	6234	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPS28	6234	HP:0009778	Short thumb
OMIM:105650	RPS28	6234	HP:0000774	Narrow chest
OMIM:105650	RPS28	6234	HP:0000347	Micrognathia
OMIM:105650	RPS28	6234	HP:0001680	Coarctation of aorta
OMIM:105650	RPS28	6234	HP:0000218	High palate
OMIM:105650	RPS28	6234	HP:0000470	Short neck
OMIM:105650	RPS28	6234	HP:0001249	Intellectual disability
OMIM:105650	RPS28	6234	HP:0001622	Premature birth
OMIM:105650	RPS28	6234	HP:0000252	Microcephaly
OMIM:105650	RPS28	6234	HP:0000946	Hypoplastic ilia
OMIM:105650	RPS28	6234	HP:0001896	Reticulocytopenia
OMIM:105650	RPS28	6234	HP:0004322	Short stature
OMIM:105650	RPS28	6234	HP:0001631	Atria septal defect
OMIM:105650	RPS28	6234	HP:0001875	Neutropenia
OMIM:105650	RPS28	6234	HP:0001635	Congestive heart failure
OMIM:105650	RPS28	6234	HP:0001629	Ventricular septal defect
OMIM:105650	RPS28	6234	HP:0000878	11 pairs of ribs
OMIM:105650	RPS28	6234	HP:0000278	Retrognathia
OMIM:105650	RPS28	6234	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPS28	6234	HP:0001199	Triphalangeal thumb
OMIM:105650	RPS28	6234	HP:0002669	Osteosarcoma
OMIM:105650	RPS28	6234	HP:0002863	Myelodysplasia
OMIM:105650	RPS28	6234	HP:0000486	Strabismus
OMIM:105650	RPS28	6234	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPS28	6234	HP:0002697	Parietal foramina
OMIM:105650	RPS28	6234	HP:0000204	Cleft upper lip
OMIM:105650	RPS28	6234	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPS28	6234	HP:0000465	Webbed neck
OMIM:105650	RPS28	6234	HP:0001508	Failure to thrive
OMIM:105650	RPS28	6234	HP:0000980	Pallor
OMIM:105650	RPS28	6234	HP:0000316	Hypertelorism
OMIM:105650	RPS28	6234	HP:0009777	Absent thumb
OMIM:105650	RPS28	6234	HP:0000175	Cleft palate
OMIM:105650	RPS28	6234	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPS28	6234	HP:0001873	Thrombocytopenia
OMIM:105650	RPS29	6235	HP:0001894	Thrombocytosis
OMIM:105650	RPS29	6235	HP:0003593	Infantile onset
OMIM:105650	RPS29	6235	HP:0000457	Depressed nasal ridge
OMIM:105650	RPS29	6235	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPS29	6235	HP:0009778	Short thumb
OMIM:105650	RPS29	6235	HP:0000774	Narrow chest
OMIM:105650	RPS29	6235	HP:0000347	Micrognathia
OMIM:105650	RPS29	6235	HP:0001680	Coarctation of aorta
OMIM:105650	RPS29	6235	HP:0000218	High palate
OMIM:105650	RPS29	6235	HP:0000470	Short neck
OMIM:105650	RPS29	6235	HP:0001249	Intellectual disability
OMIM:105650	RPS29	6235	HP:0001622	Premature birth
OMIM:105650	RPS29	6235	HP:0000252	Microcephaly
OMIM:105650	RPS29	6235	HP:0000946	Hypoplastic ilia
OMIM:105650	RPS29	6235	HP:0001896	Reticulocytopenia
OMIM:105650	RPS29	6235	HP:0004322	Short stature
OMIM:105650	RPS29	6235	HP:0001631	Atria septal defect
OMIM:105650	RPS29	6235	HP:0001875	Neutropenia
OMIM:105650	RPS29	6235	HP:0001635	Congestive heart failure
OMIM:105650	RPS29	6235	HP:0001629	Ventricular septal defect
OMIM:105650	RPS29	6235	HP:0000878	11 pairs of ribs
OMIM:105650	RPS29	6235	HP:0000278	Retrognathia
OMIM:105650	RPS29	6235	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPS29	6235	HP:0001199	Triphalangeal thumb
OMIM:105650	RPS29	6235	HP:0002669	Osteosarcoma
OMIM:105650	RPS29	6235	HP:0002863	Myelodysplasia
OMIM:105650	RPS29	6235	HP:0000486	Strabismus
OMIM:105650	RPS29	6235	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPS29	6235	HP:0002697	Parietal foramina
OMIM:105650	RPS29	6235	HP:0000204	Cleft upper lip
OMIM:105650	RPS29	6235	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPS29	6235	HP:0000465	Webbed neck
OMIM:105650	RPS29	6235	HP:0001508	Failure to thrive
OMIM:105650	RPS29	6235	HP:0000980	Pallor
OMIM:105650	RPS29	6235	HP:0000316	Hypertelorism
OMIM:105650	RPS29	6235	HP:0009777	Absent thumb
OMIM:105650	RPS29	6235	HP:0000175	Cleft palate
OMIM:105650	RPS29	6235	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPS29	6235	HP:0001873	Thrombocytopenia
OMIM:105650	RPS10	6204	HP:0001894	Thrombocytosis
OMIM:105650	RPS10	6204	HP:0003593	Infantile onset
OMIM:105650	RPS10	6204	HP:0000457	Depressed nasal ridge
OMIM:105650	RPS10	6204	HP:0000494	Downslanted palpebral fissures
OMIM:105650	RPS10	6204	HP:0009778	Short thumb
OMIM:105650	RPS10	6204	HP:0000774	Narrow chest
OMIM:105650	RPS10	6204	HP:0000347	Micrognathia
OMIM:105650	RPS10	6204	HP:0001680	Coarctation of aorta
OMIM:105650	RPS10	6204	HP:0000218	High palate
OMIM:105650	RPS10	6204	HP:0000470	Short neck
OMIM:105650	RPS10	6204	HP:0001249	Intellectual disability
OMIM:105650	RPS10	6204	HP:0001622	Premature birth
OMIM:105650	RPS10	6204	HP:0000252	Microcephaly
OMIM:105650	RPS10	6204	HP:0000946	Hypoplastic ilia
OMIM:105650	RPS10	6204	HP:0001896	Reticulocytopenia
OMIM:105650	RPS10	6204	HP:0004322	Short stature
OMIM:105650	RPS10	6204	HP:0001631	Atria septal defect
OMIM:105650	RPS10	6204	HP:0001875	Neutropenia
OMIM:105650	RPS10	6204	HP:0001635	Congestive heart failure
OMIM:105650	RPS10	6204	HP:0001629	Ventricular septal defect
OMIM:105650	RPS10	6204	HP:0000878	11 pairs of ribs
OMIM:105650	RPS10	6204	HP:0000278	Retrognathia
OMIM:105650	RPS10	6204	HP:0000006	Autosomal dominant inheritance
OMIM:105650	RPS10	6204	HP:0001199	Triphalangeal thumb
OMIM:105650	RPS10	6204	HP:0002669	Osteosarcoma
OMIM:105650	RPS10	6204	HP:0002863	Myelodysplasia
OMIM:105650	RPS10	6204	HP:0000486	Strabismus
OMIM:105650	RPS10	6204	HP:0002984	Hypoplasia of the radius
OMIM:105650	RPS10	6204	HP:0002697	Parietal foramina
OMIM:105650	RPS10	6204	HP:0000204	Cleft upper lip
OMIM:105650	RPS10	6204	HP:0001511	Intrauterine growth retardation
OMIM:105650	RPS10	6204	HP:0000465	Webbed neck
OMIM:105650	RPS10	6204	HP:0001508	Failure to thrive
OMIM:105650	RPS10	6204	HP:0000980	Pallor
OMIM:105650	RPS10	6204	HP:0000316	Hypertelorism
OMIM:105650	RPS10	6204	HP:0009777	Absent thumb
OMIM:105650	RPS10	6204	HP:0000175	Cleft palate
OMIM:105650	RPS10	6204	HP:0000270	Delayed cranial suture closure
OMIM:105650	RPS10	6204	HP:0001873	Thrombocytopenia
OMIM:105650	GATA1	2623	HP:0001894	Thrombocytosis
OMIM:105650	GATA1	2623	HP:0003593	Infantile onset
OMIM:105650	GATA1	2623	HP:0000457	Depressed nasal ridge
OMIM:105650	GATA1	2623	HP:0000494	Downslanted palpebral fissures
OMIM:105650	GATA1	2623	HP:0009778	Short thumb
OMIM:105650	GATA1	2623	HP:0000774	Narrow chest
OMIM:105650	GATA1	2623	HP:0000347	Micrognathia
OMIM:105650	GATA1	2623	HP:0001680	Coarctation of aorta
OMIM:105650	GATA1	2623	HP:0000218	High palate
OMIM:105650	GATA1	2623	HP:0000470	Short neck
OMIM:105650	GATA1	2623	HP:0001249	Intellectual disability
OMIM:105650	GATA1	2623	HP:0001622	Premature birth
OMIM:105650	GATA1	2623	HP:0000252	Microcephaly
OMIM:105650	GATA1	2623	HP:0000946	Hypoplastic ilia
OMIM:105650	GATA1	2623	HP:0001896	Reticulocytopenia
OMIM:105650	GATA1	2623	HP:0004322	Short stature
OMIM:105650	GATA1	2623	HP:0001631	Atria septal defect
OMIM:105650	GATA1	2623	HP:0001875	Neutropenia
OMIM:105650	GATA1	2623	HP:0001635	Congestive heart failure
OMIM:105650	GATA1	2623	HP:0001629	Ventricular septal defect
OMIM:105650	GATA1	2623	HP:0000878	11 pairs of ribs
OMIM:105650	GATA1	2623	HP:0000278	Retrognathia
OMIM:105650	GATA1	2623	HP:0000006	Autosomal dominant inheritance
OMIM:105650	GATA1	2623	HP:0001199	Triphalangeal thumb
OMIM:105650	GATA1	2623	HP:0002669	Osteosarcoma
OMIM:105650	GATA1	2623	HP:0002863	Myelodysplasia
OMIM:105650	GATA1	2623	HP:0000486	Strabismus
OMIM:105650	GATA1	2623	HP:0002984	Hypoplasia of the radius
OMIM:105650	GATA1	2623	HP:0002697	Parietal foramina
OMIM:105650	GATA1	2623	HP:0000204	Cleft upper lip
OMIM:105650	GATA1	2623	HP:0001511	Intrauterine growth retardation
OMIM:105650	GATA1	2623	HP:0000465	Webbed neck
OMIM:105650	GATA1	2623	HP:0001508	Failure to thrive
OMIM:105650	GATA1	2623	HP:0000980	Pallor
OMIM:105650	GATA1	2623	HP:0000316	Hypertelorism
OMIM:105650	GATA1	2623	HP:0009777	Absent thumb
OMIM:105650	GATA1	2623	HP:0000175	Cleft palate
OMIM:105650	GATA1	2623	HP:0000270	Delayed cranial suture closure
OMIM:105650	GATA1	2623	HP:0001873	Thrombocytopenia
OMIM:600807	CCL11	6356	HP:0002099	Asthma
ORPHANET:93387	PTHLH	5744	HP:0002007	Frontal bossing
ORPHANET:93387	PTHLH	5744	HP:0004322	Short stature
ORPHANET:93387	PTHLH	5744	HP:0000256	Macrocephaly
ORPHANET:93387	PTHLH	5744	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:93387	PTHLH	5744	HP:0100555	Asymmetric growth
ORPHANET:93387	PTHLH	5744	HP:0001382	Joint hypermobility
ORPHANET:93387	PTHLH	5744	HP:0009882	Short distal phalanx of finger
ORPHANET:93387	HOXD13	3239	HP:0002007	Frontal bossing
ORPHANET:93387	HOXD13	3239	HP:0004322	Short stature
ORPHANET:93387	HOXD13	3239	HP:0000256	Macrocephaly
ORPHANET:93387	HOXD13	3239	HP:0001163	Abnormality of the metacarpal bones
ORPHANET:93387	HOXD13	3239	HP:0100555	Asymmetric growth
ORPHANET:93387	HOXD13	3239	HP:0001382	Joint hypermobility
ORPHANET:93387	HOXD13	3239	HP:0009882	Short distal phalanx of finger
OMIM:141749	HBB	3043	HP:0000006	Autosomal dominant inheritance
OMIM:141749	KLF1	10661	HP:0000006	Autosomal dominant inheritance
OMIM:141749	HBD	3045	HP:0000006	Autosomal dominant inheritance
OMIM:141749	HBG1	3047	HP:0000006	Autosomal dominant inheritance
OMIM:141749	BCL11A	53335	HP:0000006	Autosomal dominant inheritance
OMIM:141749	HBG2	3048	HP:0000006	Autosomal dominant inheritance
OMIM:146700	FLG	2312	HP:0000976	Eczematoid dermatitis
OMIM:146700	FLG	2312	HP:0000006	Autosomal dominant inheritance
OMIM:146700	FLG	2312	HP:0002099	Asthma
OMIM:146700	FLG	2312	HP:0008064	Ichthyosis
OMIM:176873	CDK11B	984	HP:0000006	Autosomal dominant inheritance
OMIM:176873	CDK11B	984	HP:0002664	Neoplasm
ORPHANET:85410	TYK2	7297	HP:0002829	Arthralgia
ORPHANET:85410	TYK2	7297	HP:0002960	Autoimmunity
ORPHANET:85410	TYK2	7297	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:85410	FAS	355	HP:0002829	Arthralgia
ORPHANET:85410	FAS	355	HP:0002960	Autoimmunity
ORPHANET:85410	FAS	355	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:85410	IL2RA	3559	HP:0002829	Arthralgia
ORPHANET:85410	IL2RA	3559	HP:0002960	Autoimmunity
ORPHANET:85410	IL2RA	3559	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:85410	CD247	919	HP:0002829	Arthralgia
ORPHANET:85410	CD247	919	HP:0002960	Autoimmunity
ORPHANET:85410	CD247	919	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:85410	STAT4	6775	HP:0002829	Arthralgia
ORPHANET:85410	STAT4	6775	HP:0002960	Autoimmunity
ORPHANET:85410	STAT4	6775	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:85410	IL2RB	3560	HP:0002829	Arthralgia
ORPHANET:85410	IL2RB	3560	HP:0002960	Autoimmunity
ORPHANET:85410	IL2RB	3560	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:85410	PTPN2	5771	HP:0002829	Arthralgia
ORPHANET:85410	PTPN2	5771	HP:0002960	Autoimmunity
ORPHANET:85410	PTPN2	5771	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:85410	ANKRD55	79722	HP:0002829	Arthralgia
ORPHANET:85410	ANKRD55	79722	HP:0002960	Autoimmunity
ORPHANET:85410	ANKRD55	79722	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:85410	PTPN22	26191	HP:0002829	Arthralgia
ORPHANET:85410	PTPN22	26191	HP:0002960	Autoimmunity
ORPHANET:85410	PTPN22	26191	HP:0100533	Inflammatory abnormality of the eye
OMIM:609800	STX1B	112755	HP:0002069	Generalized tonic-clonic seizures
OMIM:609800	STX1B	112755	HP:0002373	Febrile seizures
OMIM:609800	STX1B	112755	HP:0000006	Autosomal dominant inheritance
OMIM:609800	SCN1A	6323	HP:0002069	Generalized tonic-clonic seizures
OMIM:609800	SCN1A	6323	HP:0002373	Febrile seizures
OMIM:609800	SCN1A	6323	HP:0000006	Autosomal dominant inheritance
OMIM:609800	GABRD	2563	HP:0002069	Generalized tonic-clonic seizures
OMIM:609800	GABRD	2563	HP:0002373	Febrile seizures
OMIM:609800	GABRD	2563	HP:0000006	Autosomal dominant inheritance
OMIM:609800	SCN1B	6324	HP:0002069	Generalized tonic-clonic seizures
OMIM:609800	SCN1B	6324	HP:0002373	Febrile seizures
OMIM:609800	SCN1B	6324	HP:0000006	Autosomal dominant inheritance
OMIM:609800	SCN2A	6326	HP:0002069	Generalized tonic-clonic seizures
OMIM:609800	SCN2A	6326	HP:0002373	Febrile seizures
OMIM:609800	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:609800	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:609800	GABRG2	2566	HP:0002373	Febrile seizures
OMIM:609800	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:609800	SCN9A	6335	HP:0002069	Generalized tonic-clonic seizures
OMIM:609800	SCN9A	6335	HP:0002373	Febrile seizures
OMIM:609800	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:159595	GATA1	2623	HP:0001974	Leukocytosis
OMIM:105800	COL3A1	1281	HP:0000006	Autosomal dominant inheritance
OMIM:105800	COL3A1	1281	HP:0002170	Intracranial hemorrhage
OMIM:105800	ENG	2022	HP:0000006	Autosomal dominant inheritance
OMIM:105800	ENG	2022	HP:0002170	Intracranial hemorrhage
OMIM:105800	TGFBR3	7049	HP:0000006	Autosomal dominant inheritance
OMIM:105800	TGFBR3	7049	HP:0002170	Intracranial hemorrhage
OMIM:600118	RAB3GAP1	22930	HP:0000400	Macrotia
OMIM:600118	RAB3GAP1	22930	HP:0001249	Intellectual disability
OMIM:600118	RAB3GAP1	22930	HP:0002079	Hypoplasia of the corpus callosum
OMIM:600118	RAB3GAP1	22930	HP:0000252	Microcephaly
OMIM:600118	RAB3GAP1	22930	HP:0000568	Microphthalmia
OMIM:600118	RAB3GAP1	22930	HP:0002059	Cerebral atrophy
OMIM:600118	RAB3GAP1	22930	HP:0004322	Short stature
OMIM:600118	RAB3GAP1	22930	HP:0001252	Muscular hypotonia
OMIM:600118	RAB3GAP1	22930	HP:0000648	Optic atrophy
OMIM:600118	RAB3GAP1	22930	HP:0001508	Failure to thrive
OMIM:600118	RAB3GAP1	22930	HP:0003241	External genital hypoplasia
OMIM:600118	RAB3GAP1	22930	HP:0000939	Osteoporosis
OMIM:600118	RAB3GAP1	22930	HP:0000519	Congenital cataract
OMIM:600118	RAB3GAP1	22930	HP:0001321	Cerebellar hypoplasia
OMIM:600118	RAB3GAP1	22930	HP:0000007	Autosomal recessive inheritance
OMIM:600118	RAB3GAP1	22930	HP:0000482	Microcornea
OMIM:600118	RAB3GAP1	22930	HP:0001347	Hyperreflexia
OMIM:600118	RAB3GAP1	22930	HP:0002751	Kyphoscoliosis
OMIM:600118	RAB3GAP1	22930	HP:0000347	Micrognathia
OMIM:600118	RAB3GAP1	22930	HP:0001382	Joint hypermobility
OMIM:600118	RAB3GAP1	22930	HP:0000028	Cryptorchidism
OMIM:600118	RAB3GAP1	22930	HP:0002219	Facial hypertrichosis
OMIM:600118	RAB3GAP1	22930	HP:0001274	Agenesis of corpus callosum
OMIM:600118	RAB3GAP1	22930	HP:0000508	Ptosis
OMIM:600118	RAB3GAP1	22930	HP:0001845	Overlapping toe
OMIM:600118	RAB3GAP1	22930	HP:0000490	Deeply set eye
OMIM:600118	RAB18	22931	HP:0000400	Macrotia
OMIM:600118	RAB18	22931	HP:0001249	Intellectual disability
OMIM:600118	RAB18	22931	HP:0002079	Hypoplasia of the corpus callosum
OMIM:600118	RAB18	22931	HP:0000252	Microcephaly
OMIM:600118	RAB18	22931	HP:0000568	Microphthalmia
OMIM:600118	RAB18	22931	HP:0002059	Cerebral atrophy
OMIM:600118	RAB18	22931	HP:0004322	Short stature
OMIM:600118	RAB18	22931	HP:0001252	Muscular hypotonia
OMIM:600118	RAB18	22931	HP:0000648	Optic atrophy
OMIM:600118	RAB18	22931	HP:0001508	Failure to thrive
OMIM:600118	RAB18	22931	HP:0003241	External genital hypoplasia
OMIM:600118	RAB18	22931	HP:0000939	Osteoporosis
OMIM:600118	RAB18	22931	HP:0000519	Congenital cataract
OMIM:600118	RAB18	22931	HP:0001321	Cerebellar hypoplasia
OMIM:600118	RAB18	22931	HP:0000007	Autosomal recessive inheritance
OMIM:600118	RAB18	22931	HP:0000482	Microcornea
OMIM:600118	RAB18	22931	HP:0001347	Hyperreflexia
OMIM:600118	RAB18	22931	HP:0002751	Kyphoscoliosis
OMIM:600118	RAB18	22931	HP:0000347	Micrognathia
OMIM:600118	RAB18	22931	HP:0001382	Joint hypermobility
OMIM:600118	RAB18	22931	HP:0000028	Cryptorchidism
OMIM:600118	RAB18	22931	HP:0002219	Facial hypertrichosis
OMIM:600118	RAB18	22931	HP:0001274	Agenesis of corpus callosum
OMIM:600118	RAB18	22931	HP:0000508	Ptosis
OMIM:600118	RAB18	22931	HP:0001845	Overlapping toe
OMIM:600118	RAB18	22931	HP:0000490	Deeply set eye
OMIM:600118	RAB3GAP2	25782	HP:0000400	Macrotia
OMIM:600118	RAB3GAP2	25782	HP:0001249	Intellectual disability
OMIM:600118	RAB3GAP2	25782	HP:0002079	Hypoplasia of the corpus callosum
OMIM:600118	RAB3GAP2	25782	HP:0000252	Microcephaly
OMIM:600118	RAB3GAP2	25782	HP:0000568	Microphthalmia
OMIM:600118	RAB3GAP2	25782	HP:0002059	Cerebral atrophy
OMIM:600118	RAB3GAP2	25782	HP:0004322	Short stature
OMIM:600118	RAB3GAP2	25782	HP:0001252	Muscular hypotonia
OMIM:600118	RAB3GAP2	25782	HP:0000648	Optic atrophy
OMIM:600118	RAB3GAP2	25782	HP:0001508	Failure to thrive
OMIM:600118	RAB3GAP2	25782	HP:0003241	External genital hypoplasia
OMIM:600118	RAB3GAP2	25782	HP:0000939	Osteoporosis
OMIM:600118	RAB3GAP2	25782	HP:0000519	Congenital cataract
OMIM:600118	RAB3GAP2	25782	HP:0001321	Cerebellar hypoplasia
OMIM:600118	RAB3GAP2	25782	HP:0000007	Autosomal recessive inheritance
OMIM:600118	RAB3GAP2	25782	HP:0000482	Microcornea
OMIM:600118	RAB3GAP2	25782	HP:0001347	Hyperreflexia
OMIM:600118	RAB3GAP2	25782	HP:0002751	Kyphoscoliosis
OMIM:600118	RAB3GAP2	25782	HP:0000347	Micrognathia
OMIM:600118	RAB3GAP2	25782	HP:0001382	Joint hypermobility
OMIM:600118	RAB3GAP2	25782	HP:0000028	Cryptorchidism
OMIM:600118	RAB3GAP2	25782	HP:0002219	Facial hypertrichosis
OMIM:600118	RAB3GAP2	25782	HP:0001274	Agenesis of corpus callosum
OMIM:600118	RAB3GAP2	25782	HP:0000508	Ptosis
OMIM:600118	RAB3GAP2	25782	HP:0001845	Overlapping toe
OMIM:600118	RAB3GAP2	25782	HP:0000490	Deeply set eye
OMIM:600118	TBC1D20	128637	HP:0000400	Macrotia
OMIM:600118	TBC1D20	128637	HP:0001249	Intellectual disability
OMIM:600118	TBC1D20	128637	HP:0002079	Hypoplasia of the corpus callosum
OMIM:600118	TBC1D20	128637	HP:0000252	Microcephaly
OMIM:600118	TBC1D20	128637	HP:0000568	Microphthalmia
OMIM:600118	TBC1D20	128637	HP:0002059	Cerebral atrophy
OMIM:600118	TBC1D20	128637	HP:0004322	Short stature
OMIM:600118	TBC1D20	128637	HP:0001252	Muscular hypotonia
OMIM:600118	TBC1D20	128637	HP:0000648	Optic atrophy
OMIM:600118	TBC1D20	128637	HP:0001508	Failure to thrive
OMIM:600118	TBC1D20	128637	HP:0003241	External genital hypoplasia
OMIM:600118	TBC1D20	128637	HP:0000939	Osteoporosis
OMIM:600118	TBC1D20	128637	HP:0000519	Congenital cataract
OMIM:600118	TBC1D20	128637	HP:0001321	Cerebellar hypoplasia
OMIM:600118	TBC1D20	128637	HP:0000007	Autosomal recessive inheritance
OMIM:600118	TBC1D20	128637	HP:0000482	Microcornea
OMIM:600118	TBC1D20	128637	HP:0001347	Hyperreflexia
OMIM:600118	TBC1D20	128637	HP:0002751	Kyphoscoliosis
OMIM:600118	TBC1D20	128637	HP:0000347	Micrognathia
OMIM:600118	TBC1D20	128637	HP:0001382	Joint hypermobility
OMIM:600118	TBC1D20	128637	HP:0000028	Cryptorchidism
OMIM:600118	TBC1D20	128637	HP:0002219	Facial hypertrichosis
OMIM:600118	TBC1D20	128637	HP:0001274	Agenesis of corpus callosum
OMIM:600118	TBC1D20	128637	HP:0000508	Ptosis
OMIM:600118	TBC1D20	128637	HP:0001845	Overlapping toe
OMIM:600118	TBC1D20	128637	HP:0000490	Deeply set eye
OMIM:231200	GP1BA	2811	HP:0001892	Abnormal bleeding
OMIM:231200	GP1BA	2811	HP:0003010	Prolonged bleeding time
OMIM:231200	GP1BA	2811	HP:0001873	Thrombocytopenia
OMIM:231200	GP1BA	2811	HP:0001438	Abnormality of the abdomen
OMIM:231200	GP1BA	2811	HP:0000007	Autosomal recessive inheritance
OMIM:231200	GP1BA	2811	HP:0000979	Purpura
OMIM:231200	GP1BA	2811	HP:0011877	Increased mean platelet volume
OMIM:231200	GP1BA	2811	HP:0000421	Epistaxis
OMIM:231200	GP1BB	2812	HP:0001892	Abnormal bleeding
OMIM:231200	GP1BB	2812	HP:0003010	Prolonged bleeding time
OMIM:231200	GP1BB	2812	HP:0001873	Thrombocytopenia
OMIM:231200	GP1BB	2812	HP:0001438	Abnormality of the abdomen
OMIM:231200	GP1BB	2812	HP:0000007	Autosomal recessive inheritance
OMIM:231200	GP1BB	2812	HP:0000979	Purpura
OMIM:231200	GP1BB	2812	HP:0011877	Increased mean platelet volume
OMIM:231200	GP1BB	2812	HP:0000421	Epistaxis
OMIM:231200	GP9	2815	HP:0001892	Abnormal bleeding
OMIM:231200	GP9	2815	HP:0003010	Prolonged bleeding time
OMIM:231200	GP9	2815	HP:0001873	Thrombocytopenia
OMIM:231200	GP9	2815	HP:0001438	Abnormality of the abdomen
OMIM:231200	GP9	2815	HP:0000007	Autosomal recessive inheritance
OMIM:231200	GP9	2815	HP:0000979	Purpura
OMIM:231200	GP9	2815	HP:0011877	Increased mean platelet volume
OMIM:231200	GP9	2815	HP:0000421	Epistaxis
OMIM:611493	GATA4	2626	HP:0005110	Atrial fibrillation
OMIM:611493	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:611493	GATA6	2627	HP:0005110	Atrial fibrillation
OMIM:611493	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:611493	KCNE2	9992	HP:0005110	Atrial fibrillation
OMIM:611493	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:611493	KCNQ1	3784	HP:0005110	Atrial fibrillation
OMIM:611493	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:611493	KCNE1	3753	HP:0005110	Atrial fibrillation
OMIM:611493	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:611493	NKX2-5	1482	HP:0005110	Atrial fibrillation
OMIM:611493	NKX2-5	1482	HP:0000006	Autosomal dominant inheritance
OMIM:611493	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:611493	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:611493	GJA5	2702	HP:0005110	Atrial fibrillation
OMIM:611493	GJA5	2702	HP:0000006	Autosomal dominant inheritance
OMIM:611493	NPPA	4878	HP:0005110	Atrial fibrillation
OMIM:611493	NPPA	4878	HP:0000006	Autosomal dominant inheritance
OMIM:611493	KCNJ2	3759	HP:0005110	Atrial fibrillation
OMIM:611493	KCNJ2	3759	HP:0000006	Autosomal dominant inheritance
OMIM:611493	NKX2-6	137814	HP:0005110	Atrial fibrillation
OMIM:611493	NKX2-6	137814	HP:0000006	Autosomal dominant inheritance
OMIM:611493	GATA5	140628	HP:0005110	Atrial fibrillation
OMIM:611493	GATA5	140628	HP:0000006	Autosomal dominant inheritance
OMIM:611493	SCN2B	6327	HP:0005110	Atrial fibrillation
OMIM:611493	SCN2B	6327	HP:0000006	Autosomal dominant inheritance
OMIM:611493	SCN3B	55800	HP:0005110	Atrial fibrillation
OMIM:611493	SCN3B	55800	HP:0000006	Autosomal dominant inheritance
OMIM:611493	SCN4B	6330	HP:0005110	Atrial fibrillation
OMIM:611493	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:611493	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:611493	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:611493	PITX2	5308	HP:0005110	Atrial fibrillation
OMIM:611493	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:611493	KCNA5	3741	HP:0005110	Atrial fibrillation
OMIM:611493	KCNA5	3741	HP:0000006	Autosomal dominant inheritance
OMIM:611493	NUP155	9631	HP:0005110	Atrial fibrillation
OMIM:611493	NUP155	9631	HP:0000006	Autosomal dominant inheritance
OMIM:616269	METTL23	124512	HP:0000303	Mandibular prognathia
OMIM:616269	METTL23	124512	HP:0000400	Macrotia
OMIM:616269	METTL23	124512	HP:0001249	Intellectual disability
OMIM:616269	METTL23	124512	HP:0000718	Aggressive behavior
OMIM:616269	METTL23	124512	HP:0000742	Self-mutilation
OMIM:616269	METTL23	124512	HP:0000343	Long philtrum
OMIM:616269	METTL23	124512	HP:0000581	Blepharophimosis
OMIM:616269	METTL23	124512	HP:0001263	Global developmental delay
OMIM:616269	CRADD	8738	HP:0000303	Mandibular prognathia
OMIM:616269	CRADD	8738	HP:0000400	Macrotia
OMIM:616269	CRADD	8738	HP:0001249	Intellectual disability
OMIM:616269	CRADD	8738	HP:0000718	Aggressive behavior
OMIM:616269	CRADD	8738	HP:0000742	Self-mutilation
OMIM:616269	CRADD	8738	HP:0000343	Long philtrum
OMIM:616269	CRADD	8738	HP:0000581	Blepharophimosis
OMIM:616269	CRADD	8738	HP:0001263	Global developmental delay
OMIM:616269	NSUN2	54888	HP:0000303	Mandibular prognathia
OMIM:616269	NSUN2	54888	HP:0000400	Macrotia
OMIM:616269	NSUN2	54888	HP:0001249	Intellectual disability
OMIM:616269	NSUN2	54888	HP:0000718	Aggressive behavior
OMIM:616269	NSUN2	54888	HP:0000742	Self-mutilation
OMIM:616269	NSUN2	54888	HP:0000343	Long philtrum
OMIM:616269	NSUN2	54888	HP:0000581	Blepharophimosis
OMIM:616269	NSUN2	54888	HP:0001263	Global developmental delay
OMIM:616269	FMN2	56776	HP:0000303	Mandibular prognathia
OMIM:616269	FMN2	56776	HP:0000400	Macrotia
OMIM:616269	FMN2	56776	HP:0001249	Intellectual disability
OMIM:616269	FMN2	56776	HP:0000718	Aggressive behavior
OMIM:616269	FMN2	56776	HP:0000742	Self-mutilation
OMIM:616269	FMN2	56776	HP:0000343	Long philtrum
OMIM:616269	FMN2	56776	HP:0000581	Blepharophimosis
OMIM:616269	FMN2	56776	HP:0001263	Global developmental delay
OMIM:616269	CLIP1	6249	HP:0000303	Mandibular prognathia
OMIM:616269	CLIP1	6249	HP:0000400	Macrotia
OMIM:616269	CLIP1	6249	HP:0001249	Intellectual disability
OMIM:616269	CLIP1	6249	HP:0000718	Aggressive behavior
OMIM:616269	CLIP1	6249	HP:0000742	Self-mutilation
OMIM:616269	CLIP1	6249	HP:0000343	Long philtrum
OMIM:616269	CLIP1	6249	HP:0000581	Blepharophimosis
OMIM:616269	CLIP1	6249	HP:0001263	Global developmental delay
OMIM:616269	ZC3H14	79882	HP:0000303	Mandibular prognathia
OMIM:616269	ZC3H14	79882	HP:0000400	Macrotia
OMIM:616269	ZC3H14	79882	HP:0001249	Intellectual disability
OMIM:616269	ZC3H14	79882	HP:0000718	Aggressive behavior
OMIM:616269	ZC3H14	79882	HP:0000742	Self-mutilation
OMIM:616269	ZC3H14	79882	HP:0000343	Long philtrum
OMIM:616269	ZC3H14	79882	HP:0000581	Blepharophimosis
OMIM:616269	ZC3H14	79882	HP:0001263	Global developmental delay
OMIM:616269	PRSS12	8492	HP:0000303	Mandibular prognathia
OMIM:616269	PRSS12	8492	HP:0000400	Macrotia
OMIM:616269	PRSS12	8492	HP:0001249	Intellectual disability
OMIM:616269	PRSS12	8492	HP:0000718	Aggressive behavior
OMIM:616269	PRSS12	8492	HP:0000742	Self-mutilation
OMIM:616269	PRSS12	8492	HP:0000343	Long philtrum
OMIM:616269	PRSS12	8492	HP:0000581	Blepharophimosis
OMIM:616269	PRSS12	8492	HP:0001263	Global developmental delay
OMIM:616269	LINS1	55180	HP:0000303	Mandibular prognathia
OMIM:616269	LINS1	55180	HP:0000400	Macrotia
OMIM:616269	LINS1	55180	HP:0001249	Intellectual disability
OMIM:616269	LINS1	55180	HP:0000718	Aggressive behavior
OMIM:616269	LINS1	55180	HP:0000742	Self-mutilation
OMIM:616269	LINS1	55180	HP:0000343	Long philtrum
OMIM:616269	LINS1	55180	HP:0000581	Blepharophimosis
OMIM:616269	LINS1	55180	HP:0001263	Global developmental delay
OMIM:616269	NDST1	3340	HP:0000303	Mandibular prognathia
OMIM:616269	NDST1	3340	HP:0000400	Macrotia
OMIM:616269	NDST1	3340	HP:0001249	Intellectual disability
OMIM:616269	NDST1	3340	HP:0000718	Aggressive behavior
OMIM:616269	NDST1	3340	HP:0000742	Self-mutilation
OMIM:616269	NDST1	3340	HP:0000343	Long philtrum
OMIM:616269	NDST1	3340	HP:0000581	Blepharophimosis
OMIM:616269	NDST1	3340	HP:0001263	Global developmental delay
OMIM:616269	CC2D1A	54862	HP:0000303	Mandibular prognathia
OMIM:616269	CC2D1A	54862	HP:0000400	Macrotia
OMIM:616269	CC2D1A	54862	HP:0001249	Intellectual disability
OMIM:616269	CC2D1A	54862	HP:0000718	Aggressive behavior
OMIM:616269	CC2D1A	54862	HP:0000742	Self-mutilation
OMIM:616269	CC2D1A	54862	HP:0000343	Long philtrum
OMIM:616269	CC2D1A	54862	HP:0000581	Blepharophimosis
OMIM:616269	CC2D1A	54862	HP:0001263	Global developmental delay
OMIM:616269	FBXO31	79791	HP:0000303	Mandibular prognathia
OMIM:616269	FBXO31	79791	HP:0000400	Macrotia
OMIM:616269	FBXO31	79791	HP:0001249	Intellectual disability
OMIM:616269	FBXO31	79791	HP:0000718	Aggressive behavior
OMIM:616269	FBXO31	79791	HP:0000742	Self-mutilation
OMIM:616269	FBXO31	79791	HP:0000343	Long philtrum
OMIM:616269	FBXO31	79791	HP:0000581	Blepharophimosis
OMIM:616269	FBXO31	79791	HP:0001263	Global developmental delay
OMIM:616269	CRBN	51185	HP:0000303	Mandibular prognathia
OMIM:616269	CRBN	51185	HP:0000400	Macrotia
OMIM:616269	CRBN	51185	HP:0001249	Intellectual disability
OMIM:616269	CRBN	51185	HP:0000718	Aggressive behavior
OMIM:616269	CRBN	51185	HP:0000742	Self-mutilation
OMIM:616269	CRBN	51185	HP:0000343	Long philtrum
OMIM:616269	CRBN	51185	HP:0000581	Blepharophimosis
OMIM:616269	CRBN	51185	HP:0001263	Global developmental delay
OMIM:616269	TRAPPC9	83696	HP:0000303	Mandibular prognathia
OMIM:616269	TRAPPC9	83696	HP:0000400	Macrotia
OMIM:616269	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:616269	TRAPPC9	83696	HP:0000718	Aggressive behavior
OMIM:616269	TRAPPC9	83696	HP:0000742	Self-mutilation
OMIM:616269	TRAPPC9	83696	HP:0000343	Long philtrum
OMIM:616269	TRAPPC9	83696	HP:0000581	Blepharophimosis
OMIM:616269	TRAPPC9	83696	HP:0001263	Global developmental delay
OMIM:616269	GRIK2	2898	HP:0000303	Mandibular prognathia
OMIM:616269	GRIK2	2898	HP:0000400	Macrotia
OMIM:616269	GRIK2	2898	HP:0001249	Intellectual disability
OMIM:616269	GRIK2	2898	HP:0000718	Aggressive behavior
OMIM:616269	GRIK2	2898	HP:0000742	Self-mutilation
OMIM:616269	GRIK2	2898	HP:0000343	Long philtrum
OMIM:616269	GRIK2	2898	HP:0000581	Blepharophimosis
OMIM:616269	GRIK2	2898	HP:0001263	Global developmental delay
OMIM:616269	SLC6A17	388662	HP:0000303	Mandibular prognathia
OMIM:616269	SLC6A17	388662	HP:0000400	Macrotia
OMIM:616269	SLC6A17	388662	HP:0001249	Intellectual disability
OMIM:616269	SLC6A17	388662	HP:0000718	Aggressive behavior
OMIM:616269	SLC6A17	388662	HP:0000742	Self-mutilation
OMIM:616269	SLC6A17	388662	HP:0000343	Long philtrum
OMIM:616269	SLC6A17	388662	HP:0000581	Blepharophimosis
OMIM:616269	SLC6A17	388662	HP:0001263	Global developmental delay
OMIM:616269	TECR	9524	HP:0000303	Mandibular prognathia
OMIM:616269	TECR	9524	HP:0000400	Macrotia
OMIM:616269	TECR	9524	HP:0001249	Intellectual disability
OMIM:616269	TECR	9524	HP:0000718	Aggressive behavior
OMIM:616269	TECR	9524	HP:0000742	Self-mutilation
OMIM:616269	TECR	9524	HP:0000343	Long philtrum
OMIM:616269	TECR	9524	HP:0000581	Blepharophimosis
OMIM:616269	TECR	9524	HP:0001263	Global developmental delay
OMIM:616269	MAN1B1	11253	HP:0000303	Mandibular prognathia
OMIM:616269	MAN1B1	11253	HP:0000400	Macrotia
OMIM:616269	MAN1B1	11253	HP:0001249	Intellectual disability
OMIM:616269	MAN1B1	11253	HP:0000718	Aggressive behavior
OMIM:616269	MAN1B1	11253	HP:0000742	Self-mutilation
OMIM:616269	MAN1B1	11253	HP:0000343	Long philtrum
OMIM:616269	MAN1B1	11253	HP:0000581	Blepharophimosis
OMIM:616269	MAN1B1	11253	HP:0001263	Global developmental delay
OMIM:616269	TUSC3	7991	HP:0000303	Mandibular prognathia
OMIM:616269	TUSC3	7991	HP:0000400	Macrotia
OMIM:616269	TUSC3	7991	HP:0001249	Intellectual disability
OMIM:616269	TUSC3	7991	HP:0000718	Aggressive behavior
OMIM:616269	TUSC3	7991	HP:0000742	Self-mutilation
OMIM:616269	TUSC3	7991	HP:0000343	Long philtrum
OMIM:616269	TUSC3	7991	HP:0000581	Blepharophimosis
OMIM:616269	TUSC3	7991	HP:0001263	Global developmental delay
OMIM:616269	ST3GAL3	6487	HP:0000303	Mandibular prognathia
OMIM:616269	ST3GAL3	6487	HP:0000400	Macrotia
OMIM:616269	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:616269	ST3GAL3	6487	HP:0000718	Aggressive behavior
OMIM:616269	ST3GAL3	6487	HP:0000742	Self-mutilation
OMIM:616269	ST3GAL3	6487	HP:0000343	Long philtrum
OMIM:616269	ST3GAL3	6487	HP:0000581	Blepharophimosis
OMIM:616269	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:616269	EDC3	80153	HP:0000303	Mandibular prognathia
OMIM:616269	EDC3	80153	HP:0000400	Macrotia
OMIM:616269	EDC3	80153	HP:0001249	Intellectual disability
OMIM:616269	EDC3	80153	HP:0000718	Aggressive behavior
OMIM:616269	EDC3	80153	HP:0000742	Self-mutilation
OMIM:616269	EDC3	80153	HP:0000343	Long philtrum
OMIM:616269	EDC3	80153	HP:0000581	Blepharophimosis
OMIM:616269	EDC3	80153	HP:0001263	Global developmental delay
OMIM:616269	MED13L	23389	HP:0000303	Mandibular prognathia
OMIM:616269	MED13L	23389	HP:0000400	Macrotia
OMIM:616269	MED13L	23389	HP:0001249	Intellectual disability
OMIM:616269	MED13L	23389	HP:0000718	Aggressive behavior
OMIM:616269	MED13L	23389	HP:0000742	Self-mutilation
OMIM:616269	MED13L	23389	HP:0000343	Long philtrum
OMIM:616269	MED13L	23389	HP:0000581	Blepharophimosis
OMIM:616269	MED13L	23389	HP:0001263	Global developmental delay
OMIM:616269	KIAA1033	23325	HP:0000303	Mandibular prognathia
OMIM:616269	KIAA1033	23325	HP:0000400	Macrotia
OMIM:616269	KIAA1033	23325	HP:0001249	Intellectual disability
OMIM:616269	KIAA1033	23325	HP:0000718	Aggressive behavior
OMIM:616269	KIAA1033	23325	HP:0000742	Self-mutilation
OMIM:616269	KIAA1033	23325	HP:0000343	Long philtrum
OMIM:616269	KIAA1033	23325	HP:0000581	Blepharophimosis
OMIM:616269	KIAA1033	23325	HP:0001263	Global developmental delay
OMIM:616269	MED23	9439	HP:0000303	Mandibular prognathia
OMIM:616269	MED23	9439	HP:0000400	Macrotia
OMIM:616269	MED23	9439	HP:0001249	Intellectual disability
OMIM:616269	MED23	9439	HP:0000718	Aggressive behavior
OMIM:616269	MED23	9439	HP:0000742	Self-mutilation
OMIM:616269	MED23	9439	HP:0000343	Long philtrum
OMIM:616269	MED23	9439	HP:0000581	Blepharophimosis
OMIM:616269	MED23	9439	HP:0001263	Global developmental delay
OMIM:615541	TTI2	80185	HP:0000486	Strabismus
OMIM:615541	TTI2	80185	HP:0000340	Sloping forehead
OMIM:615541	TTI2	80185	HP:0001263	Global developmental delay
OMIM:615541	TTI2	80185	HP:0000664	Synophrys
OMIM:615541	TTI2	80185	HP:0000007	Autosomal recessive inheritance
OMIM:615541	TTI2	80185	HP:0000400	Macrotia
OMIM:615541	TTI2	80185	HP:0000252	Microcephaly
OMIM:615541	TTI2	80185	HP:0000490	Deeply set eye
OMIM:615541	TTI2	80185	HP:0001249	Intellectual disability
OMIM:615541	TTI2	80185	HP:0002751	Kyphoscoliosis
OMIM:615541	TTI2	80185	HP:0004322	Short stature
OMIM:615541	TTI2	80185	HP:0003593	Infantile onset
OMIM:615541	TTI2	80185	HP:0000448	Prominent nose
OMIM:615541	TTI2	80185	HP:0000718	Aggressive behavior
OMIM:615541	TTI2	80185	HP:0000733	Stereotypic behavior
OMIM:615541	TTI2	80185	HP:0000750	Delayed speech and language development
OMIM:615541	TTI2	80185	HP:0000752	Hyperactivity
OMIM:125851	CEL	1056	HP:0000006	Autosomal dominant inheritance
OMIM:125851	BLK	640	HP:0000006	Autosomal dominant inheritance
OMIM:125851	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:125851	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:125851	APPL1	26060	HP:0000006	Autosomal dominant inheritance
OMIM:125851	KLF11	8462	HP:0000006	Autosomal dominant inheritance
OMIM:125851	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:125851	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:125851	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:125851	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:125851	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:125851	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:125851	NEUROD1	4760	HP:0000006	Autosomal dominant inheritance
OMIM:615625	REEP2	51308	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:615625	REEP2	51308	HP:0000006	Autosomal dominant inheritance
OMIM:615625	REEP2	51308	HP:0000007	Autosomal recessive inheritance
OMIM:615625	REEP2	51308	HP:0001761	Pes cavus
OMIM:615625	REEP2	51308	HP:0003487	Babinski sign
OMIM:615625	REEP2	51308	HP:0001258	Spastic paraplegia
OMIM:615625	REEP2	51308	HP:0002064	Spastic gait
OMIM:615625	REEP2	51308	HP:0001347	Hyperreflexia
OMIM:615625	REEP2	51308	HP:0003677	Slow progression
OMIM:202155	NR0B1	190	HP:0008207	Primary adrenal insufficiency
OMIM:202155	NR0B1	190	HP:0000007	Autosomal recessive inheritance
OMIM:202155	NR0B1	190	HP:0001507	Growth abnormality
OMIM:276880	UROC1	131669	HP:0000639	Nystagmus
OMIM:276880	UROC1	131669	HP:0006887	Intellectual disability, progressive
OMIM:276880	UROC1	131669	HP:0001337	Tremor
OMIM:276880	UROC1	131669	HP:0000007	Autosomal recessive inheritance
OMIM:276880	UROC1	131669	HP:0001251	Ataxia
OMIM:276880	UROC1	131669	HP:0010864	Intellectual disability, severe
OMIM:276880	UROC1	131669	HP:0004322	Short stature
OMIM:276880	UROC1	131669	HP:0000718	Aggressive behavior
OMIM:276880	UROC1	131669	HP:0000635	Blue irides
OMIM:268000	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:268000	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:268000	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:268000	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:268000	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:268000	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:268000	ARL6	84100	HP:0000662	Nyctalopia
OMIM:268000	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:268000	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:268000	CERKL	375298	HP:0000662	Nyctalopia
OMIM:268000	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:268000	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:268000	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:268000	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:268000	TTC8	123016	HP:0000662	Nyctalopia
OMIM:268000	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:268000	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:268000	PROM1	8842	HP:0000662	Nyctalopia
OMIM:268000	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:268000	LRAT	9227	HP:0000662	Nyctalopia
OMIM:268000	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:268000	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:268000	IFT140	9742	HP:0000662	Nyctalopia
OMIM:268000	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:268000	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:268000	BEST1	7439	HP:0000662	Nyctalopia
OMIM:268000	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:268000	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:268000	NEK2	4751	HP:0000662	Nyctalopia
OMIM:268000	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:268000	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:268000	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:268000	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:268000	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:268000	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:268000	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:268000	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:268000	EYS	346007	HP:0000662	Nyctalopia
OMIM:268000	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:268000	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:268000	MAK	4117	HP:0000662	Nyctalopia
OMIM:268000	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:268000	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:268000	SAG	6295	HP:0000662	Nyctalopia
OMIM:268000	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:268000	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:268000	ABCA4	24	HP:0000662	Nyctalopia
OMIM:268000	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:268000	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:268000	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:268000	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:268000	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:268000	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:268000	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:268000	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:268000	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:268000	OFD1	8481	HP:0000662	Nyctalopia
OMIM:268000	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:268000	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:268000	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:268000	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:268000	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:268000	NRL	4901	HP:0000662	Nyctalopia
OMIM:268000	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:268000	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:268000	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:268000	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:268000	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:268000	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:268000	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:268000	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:268000	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:268000	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:268000	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:268000	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:268000	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:268000	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:268000	IFT172	26160	HP:0000662	Nyctalopia
OMIM:268000	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:268000	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:268000	KIZ	55857	HP:0000662	Nyctalopia
OMIM:268000	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:268000	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:268000	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:268000	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:268000	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:268000	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:268000	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:268000	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:268000	RBP3	5949	HP:0000662	Nyctalopia
OMIM:268000	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:268000	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:268000	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:268000	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:268000	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:268000	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:268000	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:268000	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:268000	PRCD	768206	HP:0000662	Nyctalopia
OMIM:268000	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:268000	BBS2	583	HP:0000662	Nyctalopia
OMIM:268000	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:268000	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:268000	RDH12	145226	HP:0000662	Nyctalopia
OMIM:268000	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:268000	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:268000	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:268000	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:268000	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:268000	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:268000	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:268000	ROM1	6094	HP:0000662	Nyctalopia
OMIM:268000	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:268000	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:268000	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:268000	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:268000	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:268000	RP9	6100	HP:0000662	Nyctalopia
OMIM:268000	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:268000	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:268000	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:268000	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:268000	RP1	6101	HP:0000662	Nyctalopia
OMIM:268000	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:268000	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:268000	RP2	6102	HP:0000662	Nyctalopia
OMIM:268000	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:268000	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:268000	RPGR	6103	HP:0000662	Nyctalopia
OMIM:268000	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:268000	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:268000	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:268000	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:268000	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:268000	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:268000	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:268000	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:268000	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:268000	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:268000	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:268000	MERTK	10461	HP:0000662	Nyctalopia
OMIM:268000	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:268000	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:268000	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:268000	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:268000	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:268000	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:268000	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:268000	USH2A	7399	HP:0000662	Nyctalopia
OMIM:268000	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:268000	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:268000	RPE65	6121	HP:0000662	Nyctalopia
OMIM:268000	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:268000	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:268000	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:268000	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:268000	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:268000	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:268000	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:268000	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:268000	RGR	5995	HP:0000662	Nyctalopia
OMIM:268000	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:268000	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:268000	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:268000	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:268000	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:268000	TUB	7275	HP:0000662	Nyctalopia
OMIM:268000	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:268000	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:268000	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:268000	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:268000	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:268000	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:268000	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:268000	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:268000	TULP1	7287	HP:0000662	Nyctalopia
OMIM:268000	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:268000	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:268000	RHO	6010	HP:0000662	Nyctalopia
OMIM:268000	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:268000	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:268000	CA4	762	HP:0000662	Nyctalopia
OMIM:268000	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:268000	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:268000	CRB1	23418	HP:0000662	Nyctalopia
OMIM:268000	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:268000	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:268000	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:268000	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:268000	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:268000	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:268000	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:268000	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:268000	CRX	1406	HP:0000662	Nyctalopia
OMIM:268000	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:268000	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:211500	SLC52A3	113278	HP:0001283	Bulbar palsy
OMIM:211500	SLC52A3	113278	HP:0000007	Autosomal recessive inheritance
OMIM:211500	SLC52A3	113278	HP:0000508	Ptosis
OMIM:211500	SLC52A3	113278	HP:0002015	Dysphagia
OMIM:614881	DNAJB2	3300	HP:0001284	Areflexia
OMIM:614881	DNAJB2	3300	HP:0000007	Autosomal recessive inheritance
OMIM:614881	DNAJB2	3300	HP:0003677	Slow progression
OMIM:614881	DNAJB2	3300	HP:0001288	Gait disturbance
OMIM:614881	DNAJB2	3300	HP:0009027	Foot dorsiflexor weakness
OMIM:614881	DNAJB2	3300	HP:0007269	Spinal muscular atrophy
OMIM:614881	DNAJB2	3300	HP:0001761	Pes cavus
OMIM:611105	DARS2	55157	HP:0001251	Ataxia
OMIM:611105	DARS2	55157	HP:0001347	Hyperreflexia
OMIM:611105	DARS2	55157	HP:0000639	Nystagmus
OMIM:611105	DARS2	55157	HP:0001265	Hyporeflexia
OMIM:611105	DARS2	55157	HP:0001337	Tremor
OMIM:611105	DARS2	55157	HP:0003477	Peripheral axonal neuropathy
OMIM:611105	DARS2	55157	HP:0001270	Motor delay
OMIM:611105	DARS2	55157	HP:0001324	Muscle weakness
OMIM:611105	DARS2	55157	HP:0002352	Leukoencephalopathy
OMIM:611105	DARS2	55157	HP:0001260	Dysarthria
OMIM:611105	DARS2	55157	HP:0003677	Slow progression
OMIM:611105	DARS2	55157	HP:0003828	Variable expressivity
OMIM:611105	DARS2	55157	HP:0003487	Babinski sign
OMIM:611105	DARS2	55157	HP:0003202	Skeletal muscle atrophy
OMIM:611105	DARS2	55157	HP:0100543	Cognitive impairment
OMIM:611105	DARS2	55157	HP:0001257	Spasticity
OMIM:611105	DARS2	55157	HP:0000007	Autosomal recessive inheritance
OMIM:306700	F8	2157	HP:0000978	Bruising susceptibility
OMIM:306700	F8	2157	HP:0001419	X-linked recessive inheritance
OMIM:601104	MAPT	4137	HP:0002529	Neuronal loss in central nervous system
OMIM:601104	MAPT	4137	HP:0002063	Rigidity
OMIM:601104	MAPT	4137	HP:0002354	Memory impairment
OMIM:601104	MAPT	4137	HP:0002067	Bradykinesia
OMIM:601104	MAPT	4137	HP:0002451	Limb dystonia
OMIM:601104	MAPT	4137	HP:0001260	Dysarthria
OMIM:601104	MAPT	4137	HP:0002141	Gait imbalance
OMIM:601104	MAPT	4137	HP:0001300	Parkinsonism
OMIM:601104	MAPT	4137	HP:0002015	Dysphagia
OMIM:601104	MAPT	4137	HP:0002527	Falls
OMIM:601104	MAPT	4137	HP:0000613	Photophobia
OMIM:601104	MAPT	4137	HP:0000741	Apathy
OMIM:601104	MAPT	4137	HP:0000737	Irritability
OMIM:601104	MAPT	4137	HP:0002171	Gliosis
OMIM:601104	MAPT	4137	HP:0001337	Tremor
OMIM:601104	MAPT	4137	HP:0003581	Adult onset
OMIM:601104	MAPT	4137	HP:0000006	Autosomal dominant inheritance
OMIM:601104	MAPT	4137	HP:0000622	Blurred vision
OMIM:250790	CYB5A	1528	HP:0000007	Autosomal recessive inheritance
OMIM:250790	CYB5A	1528	HP:0003593	Infantile onset
OMIM:250790	CYB5A	1528	HP:0000961	Cyanosis
OMIM:250790	CYB5A	1528	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:250790	CYB5A	1528	HP:0000037	Male pseudohermaphroditism
OMIM:204000	AIPL1	23746	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	AIPL1	23746	HP:0001249	Intellectual disability
OMIM:204000	AIPL1	23746	HP:0000613	Photophobia
OMIM:204000	AIPL1	23746	HP:0002240	Hepatomegaly
OMIM:204000	AIPL1	23746	HP:0001099	Fundus atrophy
OMIM:204000	AIPL1	23746	HP:0000407	Sensorineural hearing impairment
OMIM:204000	AIPL1	23746	HP:0000563	Keratoconus
OMIM:204000	AIPL1	23746	HP:0000618	Blindness
OMIM:204000	AIPL1	23746	HP:0000518	Cataract
OMIM:204000	AIPL1	23746	HP:0000639	Nystagmus
OMIM:204000	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:204000	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:204000	AIPL1	23746	HP:0001510	Growth delay
OMIM:204000	AIPL1	23746	HP:0000580	Pigmentary retinopathy
OMIM:204000	NMNAT1	64802	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	NMNAT1	64802	HP:0001249	Intellectual disability
OMIM:204000	NMNAT1	64802	HP:0000613	Photophobia
OMIM:204000	NMNAT1	64802	HP:0002240	Hepatomegaly
OMIM:204000	NMNAT1	64802	HP:0001099	Fundus atrophy
OMIM:204000	NMNAT1	64802	HP:0000407	Sensorineural hearing impairment
OMIM:204000	NMNAT1	64802	HP:0000563	Keratoconus
OMIM:204000	NMNAT1	64802	HP:0000618	Blindness
OMIM:204000	NMNAT1	64802	HP:0000518	Cataract
OMIM:204000	NMNAT1	64802	HP:0000639	Nystagmus
OMIM:204000	NMNAT1	64802	HP:0007663	Reduced visual acuity
OMIM:204000	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:204000	NMNAT1	64802	HP:0001510	Growth delay
OMIM:204000	NMNAT1	64802	HP:0000580	Pigmentary retinopathy
OMIM:204000	SPATA7	55812	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	SPATA7	55812	HP:0001249	Intellectual disability
OMIM:204000	SPATA7	55812	HP:0000613	Photophobia
OMIM:204000	SPATA7	55812	HP:0002240	Hepatomegaly
OMIM:204000	SPATA7	55812	HP:0001099	Fundus atrophy
OMIM:204000	SPATA7	55812	HP:0000407	Sensorineural hearing impairment
OMIM:204000	SPATA7	55812	HP:0000563	Keratoconus
OMIM:204000	SPATA7	55812	HP:0000618	Blindness
OMIM:204000	SPATA7	55812	HP:0000518	Cataract
OMIM:204000	SPATA7	55812	HP:0000639	Nystagmus
OMIM:204000	SPATA7	55812	HP:0007663	Reduced visual acuity
OMIM:204000	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:204000	SPATA7	55812	HP:0001510	Growth delay
OMIM:204000	SPATA7	55812	HP:0000580	Pigmentary retinopathy
OMIM:204000	RDH12	145226	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	RDH12	145226	HP:0001249	Intellectual disability
OMIM:204000	RDH12	145226	HP:0000613	Photophobia
OMIM:204000	RDH12	145226	HP:0002240	Hepatomegaly
OMIM:204000	RDH12	145226	HP:0001099	Fundus atrophy
OMIM:204000	RDH12	145226	HP:0000407	Sensorineural hearing impairment
OMIM:204000	RDH12	145226	HP:0000563	Keratoconus
OMIM:204000	RDH12	145226	HP:0000618	Blindness
OMIM:204000	RDH12	145226	HP:0000518	Cataract
OMIM:204000	RDH12	145226	HP:0000639	Nystagmus
OMIM:204000	RDH12	145226	HP:0007663	Reduced visual acuity
OMIM:204000	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:204000	RDH12	145226	HP:0001510	Growth delay
OMIM:204000	RDH12	145226	HP:0000580	Pigmentary retinopathy
OMIM:204000	RPGRIP1	57096	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	RPGRIP1	57096	HP:0001249	Intellectual disability
OMIM:204000	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:204000	RPGRIP1	57096	HP:0002240	Hepatomegaly
OMIM:204000	RPGRIP1	57096	HP:0001099	Fundus atrophy
OMIM:204000	RPGRIP1	57096	HP:0000407	Sensorineural hearing impairment
OMIM:204000	RPGRIP1	57096	HP:0000563	Keratoconus
OMIM:204000	RPGRIP1	57096	HP:0000618	Blindness
OMIM:204000	RPGRIP1	57096	HP:0000518	Cataract
OMIM:204000	RPGRIP1	57096	HP:0000639	Nystagmus
OMIM:204000	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:204000	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:204000	RPGRIP1	57096	HP:0001510	Growth delay
OMIM:204000	RPGRIP1	57096	HP:0000580	Pigmentary retinopathy
OMIM:204000	RPE65	6121	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	RPE65	6121	HP:0001249	Intellectual disability
OMIM:204000	RPE65	6121	HP:0000613	Photophobia
OMIM:204000	RPE65	6121	HP:0002240	Hepatomegaly
OMIM:204000	RPE65	6121	HP:0001099	Fundus atrophy
OMIM:204000	RPE65	6121	HP:0000407	Sensorineural hearing impairment
OMIM:204000	RPE65	6121	HP:0000563	Keratoconus
OMIM:204000	RPE65	6121	HP:0000618	Blindness
OMIM:204000	RPE65	6121	HP:0000518	Cataract
OMIM:204000	RPE65	6121	HP:0000639	Nystagmus
OMIM:204000	RPE65	6121	HP:0007663	Reduced visual acuity
OMIM:204000	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:204000	RPE65	6121	HP:0001510	Growth delay
OMIM:204000	RPE65	6121	HP:0000580	Pigmentary retinopathy
OMIM:204000	LCA5	167691	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	LCA5	167691	HP:0001249	Intellectual disability
OMIM:204000	LCA5	167691	HP:0000613	Photophobia
OMIM:204000	LCA5	167691	HP:0002240	Hepatomegaly
OMIM:204000	LCA5	167691	HP:0001099	Fundus atrophy
OMIM:204000	LCA5	167691	HP:0000407	Sensorineural hearing impairment
OMIM:204000	LCA5	167691	HP:0000563	Keratoconus
OMIM:204000	LCA5	167691	HP:0000618	Blindness
OMIM:204000	LCA5	167691	HP:0000518	Cataract
OMIM:204000	LCA5	167691	HP:0000639	Nystagmus
OMIM:204000	LCA5	167691	HP:0007663	Reduced visual acuity
OMIM:204000	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:204000	LCA5	167691	HP:0001510	Growth delay
OMIM:204000	LCA5	167691	HP:0000580	Pigmentary retinopathy
OMIM:204000	LRAT	9227	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	LRAT	9227	HP:0001249	Intellectual disability
OMIM:204000	LRAT	9227	HP:0000613	Photophobia
OMIM:204000	LRAT	9227	HP:0002240	Hepatomegaly
OMIM:204000	LRAT	9227	HP:0001099	Fundus atrophy
OMIM:204000	LRAT	9227	HP:0000407	Sensorineural hearing impairment
OMIM:204000	LRAT	9227	HP:0000563	Keratoconus
OMIM:204000	LRAT	9227	HP:0000618	Blindness
OMIM:204000	LRAT	9227	HP:0000518	Cataract
OMIM:204000	LRAT	9227	HP:0000639	Nystagmus
OMIM:204000	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:204000	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:204000	LRAT	9227	HP:0001510	Growth delay
OMIM:204000	LRAT	9227	HP:0000580	Pigmentary retinopathy
OMIM:204000	IFT140	9742	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	IFT140	9742	HP:0001249	Intellectual disability
OMIM:204000	IFT140	9742	HP:0000613	Photophobia
OMIM:204000	IFT140	9742	HP:0002240	Hepatomegaly
OMIM:204000	IFT140	9742	HP:0001099	Fundus atrophy
OMIM:204000	IFT140	9742	HP:0000407	Sensorineural hearing impairment
OMIM:204000	IFT140	9742	HP:0000563	Keratoconus
OMIM:204000	IFT140	9742	HP:0000618	Blindness
OMIM:204000	IFT140	9742	HP:0000518	Cataract
OMIM:204000	IFT140	9742	HP:0000639	Nystagmus
OMIM:204000	IFT140	9742	HP:0007663	Reduced visual acuity
OMIM:204000	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:204000	IFT140	9742	HP:0001510	Growth delay
OMIM:204000	IFT140	9742	HP:0000580	Pigmentary retinopathy
OMIM:204000	TULP1	7287	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	TULP1	7287	HP:0001249	Intellectual disability
OMIM:204000	TULP1	7287	HP:0000613	Photophobia
OMIM:204000	TULP1	7287	HP:0002240	Hepatomegaly
OMIM:204000	TULP1	7287	HP:0001099	Fundus atrophy
OMIM:204000	TULP1	7287	HP:0000407	Sensorineural hearing impairment
OMIM:204000	TULP1	7287	HP:0000563	Keratoconus
OMIM:204000	TULP1	7287	HP:0000618	Blindness
OMIM:204000	TULP1	7287	HP:0000518	Cataract
OMIM:204000	TULP1	7287	HP:0000639	Nystagmus
OMIM:204000	TULP1	7287	HP:0007663	Reduced visual acuity
OMIM:204000	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:204000	TULP1	7287	HP:0001510	Growth delay
OMIM:204000	TULP1	7287	HP:0000580	Pigmentary retinopathy
OMIM:204000	GUCY2D	3000	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	GUCY2D	3000	HP:0001249	Intellectual disability
OMIM:204000	GUCY2D	3000	HP:0000613	Photophobia
OMIM:204000	GUCY2D	3000	HP:0002240	Hepatomegaly
OMIM:204000	GUCY2D	3000	HP:0001099	Fundus atrophy
OMIM:204000	GUCY2D	3000	HP:0000407	Sensorineural hearing impairment
OMIM:204000	GUCY2D	3000	HP:0000563	Keratoconus
OMIM:204000	GUCY2D	3000	HP:0000618	Blindness
OMIM:204000	GUCY2D	3000	HP:0000518	Cataract
OMIM:204000	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:204000	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:204000	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:204000	GUCY2D	3000	HP:0001510	Growth delay
OMIM:204000	GUCY2D	3000	HP:0000580	Pigmentary retinopathy
OMIM:204000	CEP290	80184	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	CEP290	80184	HP:0001249	Intellectual disability
OMIM:204000	CEP290	80184	HP:0000613	Photophobia
OMIM:204000	CEP290	80184	HP:0002240	Hepatomegaly
OMIM:204000	CEP290	80184	HP:0001099	Fundus atrophy
OMIM:204000	CEP290	80184	HP:0000407	Sensorineural hearing impairment
OMIM:204000	CEP290	80184	HP:0000563	Keratoconus
OMIM:204000	CEP290	80184	HP:0000618	Blindness
OMIM:204000	CEP290	80184	HP:0000518	Cataract
OMIM:204000	CEP290	80184	HP:0000639	Nystagmus
OMIM:204000	CEP290	80184	HP:0007663	Reduced visual acuity
OMIM:204000	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:204000	CEP290	80184	HP:0001510	Growth delay
OMIM:204000	CEP290	80184	HP:0000580	Pigmentary retinopathy
OMIM:204000	IQCB1	9657	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	IQCB1	9657	HP:0001249	Intellectual disability
OMIM:204000	IQCB1	9657	HP:0000613	Photophobia
OMIM:204000	IQCB1	9657	HP:0002240	Hepatomegaly
OMIM:204000	IQCB1	9657	HP:0001099	Fundus atrophy
OMIM:204000	IQCB1	9657	HP:0000407	Sensorineural hearing impairment
OMIM:204000	IQCB1	9657	HP:0000563	Keratoconus
OMIM:204000	IQCB1	9657	HP:0000618	Blindness
OMIM:204000	IQCB1	9657	HP:0000518	Cataract
OMIM:204000	IQCB1	9657	HP:0000639	Nystagmus
OMIM:204000	IQCB1	9657	HP:0007663	Reduced visual acuity
OMIM:204000	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:204000	IQCB1	9657	HP:0001510	Growth delay
OMIM:204000	IQCB1	9657	HP:0000580	Pigmentary retinopathy
OMIM:204000	KCNJ13	3769	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	KCNJ13	3769	HP:0001249	Intellectual disability
OMIM:204000	KCNJ13	3769	HP:0000613	Photophobia
OMIM:204000	KCNJ13	3769	HP:0002240	Hepatomegaly
OMIM:204000	KCNJ13	3769	HP:0001099	Fundus atrophy
OMIM:204000	KCNJ13	3769	HP:0000407	Sensorineural hearing impairment
OMIM:204000	KCNJ13	3769	HP:0000563	Keratoconus
OMIM:204000	KCNJ13	3769	HP:0000618	Blindness
OMIM:204000	KCNJ13	3769	HP:0000518	Cataract
OMIM:204000	KCNJ13	3769	HP:0000639	Nystagmus
OMIM:204000	KCNJ13	3769	HP:0007663	Reduced visual acuity
OMIM:204000	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:204000	KCNJ13	3769	HP:0001510	Growth delay
OMIM:204000	KCNJ13	3769	HP:0000580	Pigmentary retinopathy
OMIM:204000	CRB1	23418	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	CRB1	23418	HP:0001249	Intellectual disability
OMIM:204000	CRB1	23418	HP:0000613	Photophobia
OMIM:204000	CRB1	23418	HP:0002240	Hepatomegaly
OMIM:204000	CRB1	23418	HP:0001099	Fundus atrophy
OMIM:204000	CRB1	23418	HP:0000407	Sensorineural hearing impairment
OMIM:204000	CRB1	23418	HP:0000563	Keratoconus
OMIM:204000	CRB1	23418	HP:0000618	Blindness
OMIM:204000	CRB1	23418	HP:0000518	Cataract
OMIM:204000	CRB1	23418	HP:0000639	Nystagmus
OMIM:204000	CRB1	23418	HP:0007663	Reduced visual acuity
OMIM:204000	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:204000	CRB1	23418	HP:0001510	Growth delay
OMIM:204000	CRB1	23418	HP:0000580	Pigmentary retinopathy
OMIM:204000	GDF6	392255	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	GDF6	392255	HP:0001249	Intellectual disability
OMIM:204000	GDF6	392255	HP:0000613	Photophobia
OMIM:204000	GDF6	392255	HP:0002240	Hepatomegaly
OMIM:204000	GDF6	392255	HP:0001099	Fundus atrophy
OMIM:204000	GDF6	392255	HP:0000407	Sensorineural hearing impairment
OMIM:204000	GDF6	392255	HP:0000563	Keratoconus
OMIM:204000	GDF6	392255	HP:0000618	Blindness
OMIM:204000	GDF6	392255	HP:0000518	Cataract
OMIM:204000	GDF6	392255	HP:0000639	Nystagmus
OMIM:204000	GDF6	392255	HP:0007663	Reduced visual acuity
OMIM:204000	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:204000	GDF6	392255	HP:0001510	Growth delay
OMIM:204000	GDF6	392255	HP:0000580	Pigmentary retinopathy
OMIM:204000	RD3	343035	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	RD3	343035	HP:0001249	Intellectual disability
OMIM:204000	RD3	343035	HP:0000613	Photophobia
OMIM:204000	RD3	343035	HP:0002240	Hepatomegaly
OMIM:204000	RD3	343035	HP:0001099	Fundus atrophy
OMIM:204000	RD3	343035	HP:0000407	Sensorineural hearing impairment
OMIM:204000	RD3	343035	HP:0000563	Keratoconus
OMIM:204000	RD3	343035	HP:0000618	Blindness
OMIM:204000	RD3	343035	HP:0000518	Cataract
OMIM:204000	RD3	343035	HP:0000639	Nystagmus
OMIM:204000	RD3	343035	HP:0007663	Reduced visual acuity
OMIM:204000	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:204000	RD3	343035	HP:0001510	Growth delay
OMIM:204000	RD3	343035	HP:0000580	Pigmentary retinopathy
OMIM:204000	CRX	1406	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	CRX	1406	HP:0001249	Intellectual disability
OMIM:204000	CRX	1406	HP:0000613	Photophobia
OMIM:204000	CRX	1406	HP:0002240	Hepatomegaly
OMIM:204000	CRX	1406	HP:0001099	Fundus atrophy
OMIM:204000	CRX	1406	HP:0000407	Sensorineural hearing impairment
OMIM:204000	CRX	1406	HP:0000563	Keratoconus
OMIM:204000	CRX	1406	HP:0000618	Blindness
OMIM:204000	CRX	1406	HP:0000518	Cataract
OMIM:204000	CRX	1406	HP:0000639	Nystagmus
OMIM:204000	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:204000	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:204000	CRX	1406	HP:0001510	Growth delay
OMIM:204000	CRX	1406	HP:0000580	Pigmentary retinopathy
OMIM:204000	IMPDH1	3614	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:204000	IMPDH1	3614	HP:0001249	Intellectual disability
OMIM:204000	IMPDH1	3614	HP:0000613	Photophobia
OMIM:204000	IMPDH1	3614	HP:0002240	Hepatomegaly
OMIM:204000	IMPDH1	3614	HP:0001099	Fundus atrophy
OMIM:204000	IMPDH1	3614	HP:0000407	Sensorineural hearing impairment
OMIM:204000	IMPDH1	3614	HP:0000563	Keratoconus
OMIM:204000	IMPDH1	3614	HP:0000618	Blindness
OMIM:204000	IMPDH1	3614	HP:0000518	Cataract
OMIM:204000	IMPDH1	3614	HP:0000639	Nystagmus
OMIM:204000	IMPDH1	3614	HP:0007663	Reduced visual acuity
OMIM:204000	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:204000	IMPDH1	3614	HP:0001510	Growth delay
OMIM:204000	IMPDH1	3614	HP:0000580	Pigmentary retinopathy
OMIM:612237	EWSR1	2130	HP:0001428	Somatic mutation
OMIM:612237	TAF15	8148	HP:0001428	Somatic mutation
OMIM:612237	TFG	10342	HP:0001428	Somatic mutation
OMIM:612237	TCF12	6938	HP:0001428	Somatic mutation
OMIM:612237	NR4A3	8013	HP:0001428	Somatic mutation
OMIM:615592	IKBKB	3551	HP:0001508	Failure to thrive
OMIM:615592	IKBKB	3551	HP:0002028	Chronic diarrhea
OMIM:615592	IKBKB	3551	HP:0002721	Immunodeficiency
OMIM:615592	IKBKB	3551	HP:0000007	Autosomal recessive inheritance
OMIM:615592	IKBKB	3551	HP:0003593	Infantile onset
OMIM:615592	IKBKB	3551	HP:0004432	Agammaglobulinemia
OMIM:615592	IKBKB	3551	HP:0011947	Respiratory tract infection
OMIM:608323	YARS	8565	HP:0001760	Abnormality of the foot
OMIM:608323	YARS	8565	HP:0003693	Distal amyotrophy
OMIM:608323	YARS	8565	HP:0000006	Autosomal dominant inheritance
OMIM:608323	YARS	8565	HP:0002460	Distal muscle weakness
OMIM:608323	YARS	8565	HP:0002936	Distal sensory impairment
OMIM:606394	CEL	1056	HP:0000006	Autosomal dominant inheritance
OMIM:606394	BLK	640	HP:0000006	Autosomal dominant inheritance
OMIM:606394	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:606394	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:606394	APPL1	26060	HP:0000006	Autosomal dominant inheritance
OMIM:606394	KLF11	8462	HP:0000006	Autosomal dominant inheritance
OMIM:606394	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:606394	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:606394	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:606394	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:606394	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:606394	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:606394	NEUROD1	4760	HP:0000006	Autosomal dominant inheritance
OMIM:167400	SCN10A	6336	HP:0002019	Constipation
OMIM:167400	SCN10A	6336	HP:0007328	Impaired pain sensation
OMIM:167400	SCN10A	6336	HP:0000632	Lacrimation abnormality
OMIM:167400	SCN10A	6336	HP:0001662	Bradycardia
OMIM:167400	SCN10A	6336	HP:0001649	Tachycardia
OMIM:167400	SCN10A	6336	HP:0000006	Autosomal dominant inheritance
OMIM:167400	SCN10A	6336	HP:0003623	Neonatal onset
OMIM:167400	SCN11A	11280	HP:0002019	Constipation
OMIM:167400	SCN11A	11280	HP:0007328	Impaired pain sensation
OMIM:167400	SCN11A	11280	HP:0000632	Lacrimation abnormality
OMIM:167400	SCN11A	11280	HP:0001662	Bradycardia
OMIM:167400	SCN11A	11280	HP:0001649	Tachycardia
OMIM:167400	SCN11A	11280	HP:0000006	Autosomal dominant inheritance
OMIM:167400	SCN11A	11280	HP:0003623	Neonatal onset
OMIM:167400	SCN9A	6335	HP:0002019	Constipation
OMIM:167400	SCN9A	6335	HP:0007328	Impaired pain sensation
OMIM:167400	SCN9A	6335	HP:0000632	Lacrimation abnormality
OMIM:167400	SCN9A	6335	HP:0001662	Bradycardia
OMIM:167400	SCN9A	6335	HP:0001649	Tachycardia
OMIM:167400	SCN9A	6335	HP:0000006	Autosomal dominant inheritance
OMIM:167400	SCN9A	6335	HP:0003623	Neonatal onset
OMIM:600803	ABCB4	5244	HP:0000007	Autosomal recessive inheritance
OMIM:600803	ABCB4	5244	HP:0001082	Cholecystitis
OMIM:600803	ABCB4	5244	HP:0001081	Cholelithiasis
OMIM:600803	ABCB4	5244	HP:0001733	Pancreatitis
OMIM:600803	ABCB4	5244	HP:0000006	Autosomal dominant inheritance
OMIM:600803	ABCB4	5244	HP:0000952	Jaundice
OMIM:600803	ABCB4	5244	HP:0001395	Hepatic fibrosis
OMIM:600803	ABCB4	5244	HP:0002910	Elevated hepatic transaminases
ORPHANET:79230	HFE2	148738	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:79230	HFE2	148738	HP:0000078	Abnormality of the genital system
ORPHANET:79230	HFE2	148738	HP:0011031	Abnormality of iron homeostasis
ORPHANET:79230	HFE2	148738	HP:0000819	Diabetes mellitus
ORPHANET:79230	HFE2	148738	HP:0004349	Reduced bone mineral density
ORPHANET:79230	HFE2	148738	HP:0007440	Generalized hyperpigmentation
ORPHANET:79230	HFE2	148738	HP:0002829	Arthralgia
ORPHANET:79230	HAMP	57817	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:79230	HAMP	57817	HP:0000078	Abnormality of the genital system
ORPHANET:79230	HAMP	57817	HP:0011031	Abnormality of iron homeostasis
ORPHANET:79230	HAMP	57817	HP:0000819	Diabetes mellitus
ORPHANET:79230	HAMP	57817	HP:0004349	Reduced bone mineral density
ORPHANET:79230	HAMP	57817	HP:0007440	Generalized hyperpigmentation
ORPHANET:79230	HAMP	57817	HP:0002829	Arthralgia
OMIM:602772	RLBP1	6017	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:602772	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:602772	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:602772	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:602772	RLBP1	6017	HP:0000550	Undetectable electroretinogram
OMIM:602772	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	SPATA7	55812	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:602772	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:602772	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:602772	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:602772	SPATA7	55812	HP:0000550	Undetectable electroretinogram
OMIM:602772	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	ARL6	84100	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:602772	ARL6	84100	HP:0000662	Nyctalopia
OMIM:602772	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:602772	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:602772	ARL6	84100	HP:0000550	Undetectable electroretinogram
OMIM:602772	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	CERKL	375298	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:602772	CERKL	375298	HP:0000662	Nyctalopia
OMIM:602772	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:602772	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:602772	CERKL	375298	HP:0000550	Undetectable electroretinogram
OMIM:602772	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	PRPF31	26121	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:602772	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:602772	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:602772	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:602772	PRPF31	26121	HP:0000550	Undetectable electroretinogram
OMIM:602772	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	TTC8	123016	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:602772	TTC8	123016	HP:0000662	Nyctalopia
OMIM:602772	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:602772	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:602772	TTC8	123016	HP:0000550	Undetectable electroretinogram
OMIM:602772	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	PROM1	8842	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:602772	PROM1	8842	HP:0000662	Nyctalopia
OMIM:602772	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:602772	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:602772	PROM1	8842	HP:0000550	Undetectable electroretinogram
OMIM:602772	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	LRAT	9227	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:602772	LRAT	9227	HP:0000662	Nyctalopia
OMIM:602772	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:602772	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:602772	LRAT	9227	HP:0000550	Undetectable electroretinogram
OMIM:602772	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	IFT140	9742	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:602772	IFT140	9742	HP:0000662	Nyctalopia
OMIM:602772	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:602772	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:602772	IFT140	9742	HP:0000550	Undetectable electroretinogram
OMIM:602772	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	BEST1	7439	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:602772	BEST1	7439	HP:0000662	Nyctalopia
OMIM:602772	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:602772	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:602772	BEST1	7439	HP:0000550	Undetectable electroretinogram
OMIM:602772	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	NEK2	4751	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:602772	NEK2	4751	HP:0000662	Nyctalopia
OMIM:602772	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:602772	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:602772	NEK2	4751	HP:0000550	Undetectable electroretinogram
OMIM:602772	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	ARL2BP	23568	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:602772	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:602772	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:602772	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:602772	ARL2BP	23568	HP:0000550	Undetectable electroretinogram
OMIM:602772	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:602772	EYS	346007	HP:0000662	Nyctalopia
OMIM:602772	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:602772	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:602772	EYS	346007	HP:0000550	Undetectable electroretinogram
OMIM:602772	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	NR2E3	10002	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:602772	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:602772	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:602772	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:602772	NR2E3	10002	HP:0000550	Undetectable electroretinogram
OMIM:602772	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	MAK	4117	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:602772	MAK	4117	HP:0000662	Nyctalopia
OMIM:602772	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:602772	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:602772	MAK	4117	HP:0000550	Undetectable electroretinogram
OMIM:602772	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	SAG	6295	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:602772	SAG	6295	HP:0000662	Nyctalopia
OMIM:602772	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:602772	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:602772	SAG	6295	HP:0000550	Undetectable electroretinogram
OMIM:602772	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	ABCA4	24	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:602772	ABCA4	24	HP:0000662	Nyctalopia
OMIM:602772	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:602772	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:602772	ABCA4	24	HP:0000550	Undetectable electroretinogram
OMIM:602772	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	PDE6A	5145	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:602772	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:602772	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:602772	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:602772	PDE6A	5145	HP:0000550	Undetectable electroretinogram
OMIM:602772	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:602772	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:602772	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:602772	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:602772	PDE6G	5148	HP:0000550	Undetectable electroretinogram
OMIM:602772	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	IMPDH1	3614	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:602772	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:602772	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:602772	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:602772	IMPDH1	3614	HP:0000550	Undetectable electroretinogram
OMIM:602772	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	OFD1	8481	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:602772	OFD1	8481	HP:0000662	Nyctalopia
OMIM:602772	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:602772	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:602772	OFD1	8481	HP:0000550	Undetectable electroretinogram
OMIM:602772	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	GUCA1B	2979	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:602772	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:602772	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:602772	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:602772	GUCA1B	2979	HP:0000550	Undetectable electroretinogram
OMIM:602772	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	NRL	4901	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:602772	NRL	4901	HP:0000662	Nyctalopia
OMIM:602772	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:602772	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:602772	NRL	4901	HP:0000550	Undetectable electroretinogram
OMIM:602772	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	PDE6B	5158	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:602772	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:602772	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:602772	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:602772	PDE6B	5158	HP:0000550	Undetectable electroretinogram
OMIM:602772	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	KLHL7	55975	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:602772	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:602772	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:602772	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:602772	KLHL7	55975	HP:0000550	Undetectable electroretinogram
OMIM:602772	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	PRPF4	9128	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:602772	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:602772	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:602772	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:602772	PRPF4	9128	HP:0000550	Undetectable electroretinogram
OMIM:602772	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	PRPF3	9129	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:602772	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:602772	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:602772	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:602772	PRPF3	9129	HP:0000550	Undetectable electroretinogram
OMIM:602772	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	FAM161A	84140	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:602772	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:602772	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:602772	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:602772	FAM161A	84140	HP:0000550	Undetectable electroretinogram
OMIM:602772	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	IFT172	26160	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:602772	IFT172	26160	HP:0000662	Nyctalopia
OMIM:602772	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:602772	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:602772	IFT172	26160	HP:0000550	Undetectable electroretinogram
OMIM:602772	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	KIZ	55857	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:602772	KIZ	55857	HP:0000662	Nyctalopia
OMIM:602772	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:602772	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:602772	KIZ	55857	HP:0000550	Undetectable electroretinogram
OMIM:602772	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	CDHR1	92211	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:602772	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:602772	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:602772	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:602772	CDHR1	92211	HP:0000550	Undetectable electroretinogram
OMIM:602772	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	ZNF408	79797	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:602772	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:602772	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:602772	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:602772	ZNF408	79797	HP:0000550	Undetectable electroretinogram
OMIM:602772	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	RBP3	5949	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:602772	RBP3	5949	HP:0000662	Nyctalopia
OMIM:602772	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:602772	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:602772	RBP3	5949	HP:0000550	Undetectable electroretinogram
OMIM:602772	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	HGSNAT	138050	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:602772	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:602772	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:602772	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:602772	HGSNAT	138050	HP:0000550	Undetectable electroretinogram
OMIM:602772	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	FSCN2	25794	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:602772	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:602772	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:602772	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:602772	FSCN2	25794	HP:0000550	Undetectable electroretinogram
OMIM:602772	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	PRCD	768206	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:602772	PRCD	768206	HP:0000662	Nyctalopia
OMIM:602772	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:602772	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:602772	PRCD	768206	HP:0000550	Undetectable electroretinogram
OMIM:602772	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	BBS2	583	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:602772	BBS2	583	HP:0000662	Nyctalopia
OMIM:602772	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:602772	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:602772	BBS2	583	HP:0000550	Undetectable electroretinogram
OMIM:602772	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	RDH12	145226	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:602772	RDH12	145226	HP:0000662	Nyctalopia
OMIM:602772	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:602772	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:602772	RDH12	145226	HP:0000550	Undetectable electroretinogram
OMIM:602772	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	PRPH2	5961	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:602772	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:602772	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:602772	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:602772	PRPH2	5961	HP:0000550	Undetectable electroretinogram
OMIM:602772	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	DHDDS	79947	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:602772	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:602772	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:602772	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:602772	DHDDS	79947	HP:0000550	Undetectable electroretinogram
OMIM:602772	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	ROM1	6094	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:602772	ROM1	6094	HP:0000662	Nyctalopia
OMIM:602772	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:602772	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:602772	ROM1	6094	HP:0000550	Undetectable electroretinogram
OMIM:602772	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	C2ORF71	388939	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:602772	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:602772	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:602772	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:602772	C2ORF71	388939	HP:0000550	Undetectable electroretinogram
OMIM:602772	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	RP9	6100	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:602772	RP9	6100	HP:0000662	Nyctalopia
OMIM:602772	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:602772	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:602772	RP9	6100	HP:0000550	Undetectable electroretinogram
OMIM:602772	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	PRPF6	24148	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:602772	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:602772	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:602772	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:602772	PRPF6	24148	HP:0000550	Undetectable electroretinogram
OMIM:602772	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	RP1	6101	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:602772	RP1	6101	HP:0000662	Nyctalopia
OMIM:602772	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:602772	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:602772	RP1	6101	HP:0000550	Undetectable electroretinogram
OMIM:602772	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	RP2	6102	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:602772	RP2	6102	HP:0000662	Nyctalopia
OMIM:602772	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:602772	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:602772	RP2	6102	HP:0000550	Undetectable electroretinogram
OMIM:602772	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	RPGR	6103	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:602772	RPGR	6103	HP:0000662	Nyctalopia
OMIM:602772	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:602772	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:602772	RPGR	6103	HP:0000550	Undetectable electroretinogram
OMIM:602772	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	SEMA4A	64218	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:602772	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:602772	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:602772	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:602772	SEMA4A	64218	HP:0000550	Undetectable electroretinogram
OMIM:602772	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	C8ORF37	157657	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:602772	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:602772	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:602772	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:602772	C8ORF37	157657	HP:0000550	Undetectable electroretinogram
OMIM:602772	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	IDH3B	3420	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:602772	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:602772	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:602772	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:602772	IDH3B	3420	HP:0000550	Undetectable electroretinogram
OMIM:602772	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	MERTK	10461	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:602772	MERTK	10461	HP:0000662	Nyctalopia
OMIM:602772	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:602772	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:602772	MERTK	10461	HP:0000550	Undetectable electroretinogram
OMIM:602772	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	PRPF8	10594	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:602772	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:602772	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:602772	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:602772	PRPF8	10594	HP:0000550	Undetectable electroretinogram
OMIM:602772	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	TOPORS	10210	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:602772	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:602772	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:602772	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:602772	TOPORS	10210	HP:0000550	Undetectable electroretinogram
OMIM:602772	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	USH2A	7399	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:602772	USH2A	7399	HP:0000662	Nyctalopia
OMIM:602772	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:602772	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:602772	USH2A	7399	HP:0000550	Undetectable electroretinogram
OMIM:602772	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	RPE65	6121	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:602772	RPE65	6121	HP:0000662	Nyctalopia
OMIM:602772	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:602772	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:602772	RPE65	6121	HP:0000550	Undetectable electroretinogram
OMIM:602772	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	CLRN1	7401	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:602772	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:602772	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:602772	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:602772	CLRN1	7401	HP:0000550	Undetectable electroretinogram
OMIM:602772	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	CNGB1	1258	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:602772	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:602772	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:602772	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:602772	CNGB1	1258	HP:0000550	Undetectable electroretinogram
OMIM:602772	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	RGR	5995	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:602772	RGR	5995	HP:0000662	Nyctalopia
OMIM:602772	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:602772	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:602772	RGR	5995	HP:0000550	Undetectable electroretinogram
OMIM:602772	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	CNGA1	1259	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:602772	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:602772	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:602772	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:602772	CNGA1	1259	HP:0000550	Undetectable electroretinogram
OMIM:602772	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	TUB	7275	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:602772	TUB	7275	HP:0000662	Nyctalopia
OMIM:602772	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:602772	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:602772	TUB	7275	HP:0000550	Undetectable electroretinogram
OMIM:602772	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	SNRNP200	23020	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:602772	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:602772	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:602772	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:602772	SNRNP200	23020	HP:0000550	Undetectable electroretinogram
OMIM:602772	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	SLC7A14	57709	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:602772	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:602772	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:602772	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:602772	SLC7A14	57709	HP:0000550	Undetectable electroretinogram
OMIM:602772	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	TULP1	7287	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:602772	TULP1	7287	HP:0000662	Nyctalopia
OMIM:602772	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:602772	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:602772	TULP1	7287	HP:0000550	Undetectable electroretinogram
OMIM:602772	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	RHO	6010	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:602772	RHO	6010	HP:0000662	Nyctalopia
OMIM:602772	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:602772	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:602772	RHO	6010	HP:0000550	Undetectable electroretinogram
OMIM:602772	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	CA4	762	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:602772	CA4	762	HP:0000662	Nyctalopia
OMIM:602772	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:602772	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:602772	CA4	762	HP:0000550	Undetectable electroretinogram
OMIM:602772	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	CRB1	23418	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:602772	CRB1	23418	HP:0000662	Nyctalopia
OMIM:602772	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:602772	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:602772	CRB1	23418	HP:0000550	Undetectable electroretinogram
OMIM:602772	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	IMPG2	50939	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:602772	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:602772	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:602772	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:602772	IMPG2	50939	HP:0000550	Undetectable electroretinogram
OMIM:602772	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	ZNF513	130557	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:602772	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:602772	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:602772	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:602772	ZNF513	130557	HP:0000550	Undetectable electroretinogram
OMIM:602772	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	CRX	1406	HP:0007843	Attenuation of retinal blood vessels
OMIM:602772	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:602772	CRX	1406	HP:0000662	Nyctalopia
OMIM:602772	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:602772	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:602772	CRX	1406	HP:0000550	Undetectable electroretinogram
OMIM:602772	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:615952	STAT3	6774	HP:0001369	Arthritis
OMIM:615952	STAT3	6774	HP:0002719	Recurrent infections
OMIM:615952	STAT3	6774	HP:0002608	Celiac disease
OMIM:615952	STAT3	6774	HP:0004322	Short stature
OMIM:615952	STAT3	6774	HP:0000164	Abnormality of the teeth
OMIM:615952	STAT3	6774	HP:0000964	Eczema
OMIM:615952	STAT3	6774	HP:0002960	Autoimmunity
OMIM:615952	STAT3	6774	HP:0000821	Hypothyroidism
OMIM:310468	CLCN5	1184	HP:0003812	Phenotypic variability
OMIM:310468	CLCN5	1184	HP:0001419	X-linked recessive inheritance
OMIM:310468	CLCN5	1184	HP:0002150	Hypercalciuria
OMIM:310468	CLCN5	1184	HP:0000121	Nephrocalcinosis
OMIM:310468	CLCN5	1184	HP:0000787	Nephrolithiasis
OMIM:310468	CLCN5	1184	HP:0000096	Glomerulosclerosis
OMIM:310468	CLCN5	1184	HP:0012622	Chronic kidney disease
OMIM:615546	FAT4	79633	HP:0001510	Growth delay
OMIM:615546	FAT4	79633	HP:0008551	Microtia
OMIM:615546	FAT4	79633	HP:0000960	Sacral dimple
OMIM:615546	FAT4	79633	HP:0001388	Joint laxity
OMIM:615546	FAT4	79633	HP:0001252	Muscular hypotonia
OMIM:615546	FAT4	79633	HP:0000689	Dental malocclusion
OMIM:615546	FAT4	79633	HP:0000341	Narrow forehead
OMIM:615546	FAT4	79633	HP:0010537	Wide cranial sutures
OMIM:615546	FAT4	79633	HP:0010804	Tented upper lip vermilion
OMIM:615546	FAT4	79633	HP:0000028	Cryptorchidism
OMIM:615546	FAT4	79633	HP:0000407	Sensorineural hearing impairment
OMIM:615546	FAT4	79633	HP:0003577	Congenital onset
OMIM:615546	FAT4	79633	HP:0000347	Micrognathia
OMIM:615546	FAT4	79633	HP:0030084	Clinodactyly
OMIM:615546	FAT4	79633	HP:0000007	Autosomal recessive inheritance
OMIM:615546	FAT4	79633	HP:0000774	Narrow chest
OMIM:615546	FAT4	79633	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615546	FAT4	79633	HP:0012745	Short palpebral fissure
OMIM:615546	FAT4	79633	HP:0000272	Malar flattening
OMIM:615546	FAT4	79633	HP:0000286	Epicanthus
OMIM:615546	FAT4	79633	HP:0000327	Hypoplasia of the maxilla
OMIM:615546	FAT4	79633	HP:0000405	Conductive hearing impairment
OMIM:615546	FAT4	79633	HP:0000581	Blepharophimosis
OMIM:615546	FAT4	79633	HP:0002650	Scoliosis
OMIM:615546	FAT4	79633	HP:0000047	Hypospadias
OMIM:615546	FAT4	79633	HP:0002652	Skeletal dysplasia
OMIM:615546	FAT4	79633	HP:0010554	Cutaneous finger syndactyly
OMIM:615546	FAT4	79633	HP:0002714	Downturned corners of mouth
OMIM:615546	FAT4	79633	HP:0001249	Intellectual disability
OMIM:615546	FAT4	79633	HP:0000048	Bifid scrotum
OMIM:615546	FAT4	79633	HP:0000054	Micropenis
OMIM:615546	FAT4	79633	HP:0011968	Feeding difficulties
OMIM:615546	FAT4	79633	HP:0000413	Atresia of the external auditory canal
OMIM:615546	FAT4	79633	HP:0000431	Wide nasal bridge
OMIM:615546	FAT4	79633	HP:0000218	High palate
OMIM:615546	FAT4	79633	HP:0001762	Talipes equinovarus
OMIM:615546	FAT4	79633	HP:0000089	Renal hypoplasia
OMIM:615546	FAT4	79633	HP:0000508	Ptosis
OMIM:615546	FAT4	79633	HP:0000894	Short clavicles
OMIM:615546	FAT4	79633	HP:0000938	Osteopenia
OMIM:615546	FAT4	79633	HP:0000316	Hypertelorism
OMIM:615546	FAT4	79633	HP:0040199	Flat midface
OMIM:615546	DCHS1	8642	HP:0001510	Growth delay
OMIM:615546	DCHS1	8642	HP:0008551	Microtia
OMIM:615546	DCHS1	8642	HP:0000960	Sacral dimple
OMIM:615546	DCHS1	8642	HP:0001388	Joint laxity
OMIM:615546	DCHS1	8642	HP:0001252	Muscular hypotonia
OMIM:615546	DCHS1	8642	HP:0000689	Dental malocclusion
OMIM:615546	DCHS1	8642	HP:0000341	Narrow forehead
OMIM:615546	DCHS1	8642	HP:0010537	Wide cranial sutures
OMIM:615546	DCHS1	8642	HP:0010804	Tented upper lip vermilion
OMIM:615546	DCHS1	8642	HP:0000028	Cryptorchidism
OMIM:615546	DCHS1	8642	HP:0000407	Sensorineural hearing impairment
OMIM:615546	DCHS1	8642	HP:0003577	Congenital onset
OMIM:615546	DCHS1	8642	HP:0000347	Micrognathia
OMIM:615546	DCHS1	8642	HP:0030084	Clinodactyly
OMIM:615546	DCHS1	8642	HP:0000007	Autosomal recessive inheritance
OMIM:615546	DCHS1	8642	HP:0000774	Narrow chest
OMIM:615546	DCHS1	8642	HP:0002079	Hypoplasia of the corpus callosum
OMIM:615546	DCHS1	8642	HP:0012745	Short palpebral fissure
OMIM:615546	DCHS1	8642	HP:0000272	Malar flattening
OMIM:615546	DCHS1	8642	HP:0000286	Epicanthus
OMIM:615546	DCHS1	8642	HP:0000327	Hypoplasia of the maxilla
OMIM:615546	DCHS1	8642	HP:0000405	Conductive hearing impairment
OMIM:615546	DCHS1	8642	HP:0000581	Blepharophimosis
OMIM:615546	DCHS1	8642	HP:0002650	Scoliosis
OMIM:615546	DCHS1	8642	HP:0000047	Hypospadias
OMIM:615546	DCHS1	8642	HP:0002652	Skeletal dysplasia
OMIM:615546	DCHS1	8642	HP:0010554	Cutaneous finger syndactyly
OMIM:615546	DCHS1	8642	HP:0002714	Downturned corners of mouth
OMIM:615546	DCHS1	8642	HP:0001249	Intellectual disability
OMIM:615546	DCHS1	8642	HP:0000048	Bifid scrotum
OMIM:615546	DCHS1	8642	HP:0000054	Micropenis
OMIM:615546	DCHS1	8642	HP:0011968	Feeding difficulties
OMIM:615546	DCHS1	8642	HP:0000413	Atresia of the external auditory canal
OMIM:615546	DCHS1	8642	HP:0000431	Wide nasal bridge
OMIM:615546	DCHS1	8642	HP:0000218	High palate
OMIM:615546	DCHS1	8642	HP:0001762	Talipes equinovarus
OMIM:615546	DCHS1	8642	HP:0000089	Renal hypoplasia
OMIM:615546	DCHS1	8642	HP:0000508	Ptosis
OMIM:615546	DCHS1	8642	HP:0000894	Short clavicles
OMIM:615546	DCHS1	8642	HP:0000938	Osteopenia
OMIM:615546	DCHS1	8642	HP:0000316	Hypertelorism
OMIM:615546	DCHS1	8642	HP:0040199	Flat midface
OMIM:616462	POLR1A	25885	HP:0000400	Macrotia
OMIM:616462	POLR1A	25885	HP:0002980	Femoral bowing
OMIM:616462	POLR1A	25885	HP:0004325	Decreased body weight
OMIM:616462	POLR1A	25885	HP:0000175	Cleft palate
OMIM:616462	POLR1A	25885	HP:0000252	Microcephaly
OMIM:616462	POLR1A	25885	HP:0001643	Patent ductus arteriosus
OMIM:616462	POLR1A	25885	HP:0000453	Choanal atresia
OMIM:616462	POLR1A	25885	HP:0004322	Short stature
OMIM:616462	POLR1A	25885	HP:0008807	Acetabular dysplasia
OMIM:616462	POLR1A	25885	HP:0000347	Micrognathia
OMIM:616462	POLR1A	25885	HP:0000494	Downslanted palpebral fissures
OMIM:616462	POLR1A	25885	HP:0008551	Microtia
OMIM:616462	POLR1A	25885	HP:0000327	Hypoplasia of the maxilla
OMIM:612961	GDF5	8200	HP:0003041	Humeroradial synostosis
OMIM:612961	GDF5	8200	HP:0009701	Metacarpal synostosis
OMIM:612961	GDF5	8200	HP:0000006	Autosomal dominant inheritance
OMIM:612961	GDF5	8200	HP:0001440	Metatarsal synostosis
OMIM:612961	GDF5	8200	HP:0002967	Cubitus valgus
OMIM:612961	NOG	9241	HP:0003041	Humeroradial synostosis
OMIM:612961	NOG	9241	HP:0009701	Metacarpal synostosis
OMIM:612961	NOG	9241	HP:0000006	Autosomal dominant inheritance
OMIM:612961	NOG	9241	HP:0001440	Metatarsal synostosis
OMIM:612961	NOG	9241	HP:0002967	Cubitus valgus
OMIM:612961	FGF9	2254	HP:0003041	Humeroradial synostosis
OMIM:612961	FGF9	2254	HP:0009701	Metacarpal synostosis
OMIM:612961	FGF9	2254	HP:0000006	Autosomal dominant inheritance
OMIM:612961	FGF9	2254	HP:0001440	Metatarsal synostosis
OMIM:612961	FGF9	2254	HP:0002967	Cubitus valgus
ORPHANET:60030	TGFBR1	7046	HP:0000987	Atypical scarring of skin
ORPHANET:60030	TGFBR1	7046	HP:0001928	Abnormality of coagulation
ORPHANET:60030	TGFBR1	7046	HP:0100490	Camptodactyly of finger
ORPHANET:60030	TGFBR1	7046	HP:0001643	Patent ductus arteriosus
ORPHANET:60030	TGFBR1	7046	HP:0000963	Thin skin
ORPHANET:60030	TGFBR1	7046	HP:0000592	Blue sclerae
ORPHANET:60030	TGFBR1	7046	HP:0001363	Craniosynostosis
ORPHANET:60030	TGFBR1	7046	HP:0001382	Joint hypermobility
ORPHANET:60030	TGFBR1	7046	HP:0000347	Micrognathia
ORPHANET:60030	TGFBR1	7046	HP:0001645	Sudden cardiac death
ORPHANET:60030	TGFBR1	7046	HP:0005111	Dilatation of the ascending aorta
ORPHANET:60030	TGFBR1	7046	HP:0002650	Scoliosis
ORPHANET:60030	TGFBR1	7046	HP:0001065	Striae distensae
ORPHANET:60030	TGFBR1	7046	HP:0000175	Cleft palate
ORPHANET:60030	TGFBR1	7046	HP:0001373	Joint dislocation
ORPHANET:60030	TGFBR1	7046	HP:0002617	Aneurysm
ORPHANET:60030	TGFBR1	7046	HP:0000768	Pectus carinatum
ORPHANET:60030	TGFBR1	7046	HP:0000767	Pectus excavatum
ORPHANET:60030	TGFBR1	7046	HP:0001763	Pes planus
ORPHANET:60030	TGFBR1	7046	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:60030	TGFBR1	7046	HP:0001166	Arachnodactyly
ORPHANET:60030	TGFBR2	7048	HP:0000987	Atypical scarring of skin
ORPHANET:60030	TGFBR2	7048	HP:0001928	Abnormality of coagulation
ORPHANET:60030	TGFBR2	7048	HP:0100490	Camptodactyly of finger
ORPHANET:60030	TGFBR2	7048	HP:0001643	Patent ductus arteriosus
ORPHANET:60030	TGFBR2	7048	HP:0000963	Thin skin
ORPHANET:60030	TGFBR2	7048	HP:0000592	Blue sclerae
ORPHANET:60030	TGFBR2	7048	HP:0001363	Craniosynostosis
ORPHANET:60030	TGFBR2	7048	HP:0001382	Joint hypermobility
ORPHANET:60030	TGFBR2	7048	HP:0000347	Micrognathia
ORPHANET:60030	TGFBR2	7048	HP:0001645	Sudden cardiac death
ORPHANET:60030	TGFBR2	7048	HP:0005111	Dilatation of the ascending aorta
ORPHANET:60030	TGFBR2	7048	HP:0002650	Scoliosis
ORPHANET:60030	TGFBR2	7048	HP:0001065	Striae distensae
ORPHANET:60030	TGFBR2	7048	HP:0000175	Cleft palate
ORPHANET:60030	TGFBR2	7048	HP:0001373	Joint dislocation
ORPHANET:60030	TGFBR2	7048	HP:0002617	Aneurysm
ORPHANET:60030	TGFBR2	7048	HP:0000768	Pectus carinatum
ORPHANET:60030	TGFBR2	7048	HP:0000767	Pectus excavatum
ORPHANET:60030	TGFBR2	7048	HP:0001763	Pes planus
ORPHANET:60030	TGFBR2	7048	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:60030	TGFBR2	7048	HP:0001166	Arachnodactyly
OMIM:253290	CHRND	1144	HP:0001376	Limitation of joint mobility
OMIM:253290	CHRND	1144	HP:0001511	Intrauterine growth retardation
OMIM:253290	CHRND	1144	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:253290	CHRND	1144	HP:0000368	Low-set, posteriorly rotated ears
OMIM:253290	CHRND	1144	HP:0010306	Short thorax
OMIM:253290	CHRND	1144	HP:0007477	Abnormal dermatoglyphics
OMIM:253290	CHRND	1144	HP:0000286	Epicanthus
OMIM:253290	CHRND	1144	HP:0000347	Micrognathia
OMIM:253290	CHRND	1144	HP:0003202	Skeletal muscle atrophy
OMIM:253290	CHRND	1144	HP:0100490	Camptodactyly of finger
OMIM:253290	CHRND	1144	HP:0010935	Abnormality of the upper urinary tract
OMIM:253290	CHRND	1144	HP:0002804	Arthrogryposis multiplex congenita
OMIM:253290	CHRND	1144	HP:0000175	Cleft palate
OMIM:253290	CHRND	1144	HP:0001999	Abnormal facial shape
OMIM:253290	CHRND	1144	HP:0002948	Vertebral fusion
OMIM:253290	CHRND	1144	HP:0000343	Long philtrum
OMIM:253290	CHRND	1144	HP:0000316	Hypertelorism
OMIM:253290	CHRND	1144	HP:0001371	Flexion contracture
OMIM:253290	CHRND	1144	HP:0000007	Autosomal recessive inheritance
OMIM:253290	CHRND	1144	HP:0001373	Joint dislocation
OMIM:253290	CHRND	1144	HP:0001961	Hypoplastic heart
OMIM:253290	CHRND	1144	HP:0000160	Narrow mouth
OMIM:253290	CHRND	1144	HP:0000776	Congenital diaphragmatic hernia
OMIM:253290	CHRND	1144	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:253290	CHRND	1144	HP:0000476	Cystic hygroma
OMIM:253290	CHRND	1144	HP:0000457	Depressed nasal ridge
OMIM:253290	CHRND	1144	HP:0001561	Polyhydramnios
OMIM:253290	CHRND	1144	HP:0000252	Microcephaly
OMIM:253290	CHRND	1144	HP:0002566	Intestinal malrotation
OMIM:253290	CHRND	1144	HP:0000465	Webbed neck
OMIM:253290	CHRND	1144	HP:0000028	Cryptorchidism
OMIM:253290	CHRND	1144	HP:0001789	Hydrops fetalis
OMIM:253290	CHRND	1144	HP:0002659	Increased susceptibility to fractures
OMIM:253290	CHRND	1144	HP:0100240	Synostosis of joints
OMIM:253290	CHRND	1144	HP:0000369	Low-set ears
OMIM:253290	CHRND	1144	HP:0002089	Pulmonary hypoplasia
OMIM:253290	CHRND	1144	HP:0000969	Edema
OMIM:253290	CHRND	1144	HP:0000366	Abnormality of the nose
OMIM:253290	CHRND	1144	HP:0000582	Upslanted palpebral fissure
OMIM:253290	CHRND	1144	HP:0009381	Short finger
OMIM:253290	RAPSN	5913	HP:0001376	Limitation of joint mobility
OMIM:253290	RAPSN	5913	HP:0001511	Intrauterine growth retardation
OMIM:253290	RAPSN	5913	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:253290	RAPSN	5913	HP:0000368	Low-set, posteriorly rotated ears
OMIM:253290	RAPSN	5913	HP:0010306	Short thorax
OMIM:253290	RAPSN	5913	HP:0007477	Abnormal dermatoglyphics
OMIM:253290	RAPSN	5913	HP:0000286	Epicanthus
OMIM:253290	RAPSN	5913	HP:0000347	Micrognathia
OMIM:253290	RAPSN	5913	HP:0003202	Skeletal muscle atrophy
OMIM:253290	RAPSN	5913	HP:0100490	Camptodactyly of finger
OMIM:253290	RAPSN	5913	HP:0010935	Abnormality of the upper urinary tract
OMIM:253290	RAPSN	5913	HP:0002804	Arthrogryposis multiplex congenita
OMIM:253290	RAPSN	5913	HP:0000175	Cleft palate
OMIM:253290	RAPSN	5913	HP:0001999	Abnormal facial shape
OMIM:253290	RAPSN	5913	HP:0002948	Vertebral fusion
OMIM:253290	RAPSN	5913	HP:0000343	Long philtrum
OMIM:253290	RAPSN	5913	HP:0000316	Hypertelorism
OMIM:253290	RAPSN	5913	HP:0001371	Flexion contracture
OMIM:253290	RAPSN	5913	HP:0000007	Autosomal recessive inheritance
OMIM:253290	RAPSN	5913	HP:0001373	Joint dislocation
OMIM:253290	RAPSN	5913	HP:0001961	Hypoplastic heart
OMIM:253290	RAPSN	5913	HP:0000160	Narrow mouth
OMIM:253290	RAPSN	5913	HP:0000776	Congenital diaphragmatic hernia
OMIM:253290	RAPSN	5913	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:253290	RAPSN	5913	HP:0000476	Cystic hygroma
OMIM:253290	RAPSN	5913	HP:0000457	Depressed nasal ridge
OMIM:253290	RAPSN	5913	HP:0001561	Polyhydramnios
OMIM:253290	RAPSN	5913	HP:0000252	Microcephaly
OMIM:253290	RAPSN	5913	HP:0002566	Intestinal malrotation
OMIM:253290	RAPSN	5913	HP:0000465	Webbed neck
OMIM:253290	RAPSN	5913	HP:0000028	Cryptorchidism
OMIM:253290	RAPSN	5913	HP:0001789	Hydrops fetalis
OMIM:253290	RAPSN	5913	HP:0002659	Increased susceptibility to fractures
OMIM:253290	RAPSN	5913	HP:0100240	Synostosis of joints
OMIM:253290	RAPSN	5913	HP:0000369	Low-set ears
OMIM:253290	RAPSN	5913	HP:0002089	Pulmonary hypoplasia
OMIM:253290	RAPSN	5913	HP:0000969	Edema
OMIM:253290	RAPSN	5913	HP:0000366	Abnormality of the nose
OMIM:253290	RAPSN	5913	HP:0000582	Upslanted palpebral fissure
OMIM:253290	RAPSN	5913	HP:0009381	Short finger
OMIM:253290	CHRNG	1146	HP:0001376	Limitation of joint mobility
OMIM:253290	CHRNG	1146	HP:0001511	Intrauterine growth retardation
OMIM:253290	CHRNG	1146	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:253290	CHRNG	1146	HP:0000368	Low-set, posteriorly rotated ears
OMIM:253290	CHRNG	1146	HP:0010306	Short thorax
OMIM:253290	CHRNG	1146	HP:0007477	Abnormal dermatoglyphics
OMIM:253290	CHRNG	1146	HP:0000286	Epicanthus
OMIM:253290	CHRNG	1146	HP:0000347	Micrognathia
OMIM:253290	CHRNG	1146	HP:0003202	Skeletal muscle atrophy
OMIM:253290	CHRNG	1146	HP:0100490	Camptodactyly of finger
OMIM:253290	CHRNG	1146	HP:0010935	Abnormality of the upper urinary tract
OMIM:253290	CHRNG	1146	HP:0002804	Arthrogryposis multiplex congenita
OMIM:253290	CHRNG	1146	HP:0000175	Cleft palate
OMIM:253290	CHRNG	1146	HP:0001999	Abnormal facial shape
OMIM:253290	CHRNG	1146	HP:0002948	Vertebral fusion
OMIM:253290	CHRNG	1146	HP:0000343	Long philtrum
OMIM:253290	CHRNG	1146	HP:0000316	Hypertelorism
OMIM:253290	CHRNG	1146	HP:0001371	Flexion contracture
OMIM:253290	CHRNG	1146	HP:0000007	Autosomal recessive inheritance
OMIM:253290	CHRNG	1146	HP:0001373	Joint dislocation
OMIM:253290	CHRNG	1146	HP:0001961	Hypoplastic heart
OMIM:253290	CHRNG	1146	HP:0000160	Narrow mouth
OMIM:253290	CHRNG	1146	HP:0000776	Congenital diaphragmatic hernia
OMIM:253290	CHRNG	1146	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:253290	CHRNG	1146	HP:0000476	Cystic hygroma
OMIM:253290	CHRNG	1146	HP:0000457	Depressed nasal ridge
OMIM:253290	CHRNG	1146	HP:0001561	Polyhydramnios
OMIM:253290	CHRNG	1146	HP:0000252	Microcephaly
OMIM:253290	CHRNG	1146	HP:0002566	Intestinal malrotation
OMIM:253290	CHRNG	1146	HP:0000465	Webbed neck
OMIM:253290	CHRNG	1146	HP:0000028	Cryptorchidism
OMIM:253290	CHRNG	1146	HP:0001789	Hydrops fetalis
OMIM:253290	CHRNG	1146	HP:0002659	Increased susceptibility to fractures
OMIM:253290	CHRNG	1146	HP:0100240	Synostosis of joints
OMIM:253290	CHRNG	1146	HP:0000369	Low-set ears
OMIM:253290	CHRNG	1146	HP:0002089	Pulmonary hypoplasia
OMIM:253290	CHRNG	1146	HP:0000969	Edema
OMIM:253290	CHRNG	1146	HP:0000366	Abnormality of the nose
OMIM:253290	CHRNG	1146	HP:0000582	Upslanted palpebral fissure
OMIM:253290	CHRNG	1146	HP:0009381	Short finger
OMIM:253290	CHRNA1	1134	HP:0001376	Limitation of joint mobility
OMIM:253290	CHRNA1	1134	HP:0001511	Intrauterine growth retardation
OMIM:253290	CHRNA1	1134	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:253290	CHRNA1	1134	HP:0000368	Low-set, posteriorly rotated ears
OMIM:253290	CHRNA1	1134	HP:0010306	Short thorax
OMIM:253290	CHRNA1	1134	HP:0007477	Abnormal dermatoglyphics
OMIM:253290	CHRNA1	1134	HP:0000286	Epicanthus
OMIM:253290	CHRNA1	1134	HP:0000347	Micrognathia
OMIM:253290	CHRNA1	1134	HP:0003202	Skeletal muscle atrophy
OMIM:253290	CHRNA1	1134	HP:0100490	Camptodactyly of finger
OMIM:253290	CHRNA1	1134	HP:0010935	Abnormality of the upper urinary tract
OMIM:253290	CHRNA1	1134	HP:0002804	Arthrogryposis multiplex congenita
OMIM:253290	CHRNA1	1134	HP:0000175	Cleft palate
OMIM:253290	CHRNA1	1134	HP:0001999	Abnormal facial shape
OMIM:253290	CHRNA1	1134	HP:0002948	Vertebral fusion
OMIM:253290	CHRNA1	1134	HP:0000343	Long philtrum
OMIM:253290	CHRNA1	1134	HP:0000316	Hypertelorism
OMIM:253290	CHRNA1	1134	HP:0001371	Flexion contracture
OMIM:253290	CHRNA1	1134	HP:0000007	Autosomal recessive inheritance
OMIM:253290	CHRNA1	1134	HP:0001373	Joint dislocation
OMIM:253290	CHRNA1	1134	HP:0001961	Hypoplastic heart
OMIM:253290	CHRNA1	1134	HP:0000160	Narrow mouth
OMIM:253290	CHRNA1	1134	HP:0000776	Congenital diaphragmatic hernia
OMIM:253290	CHRNA1	1134	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:253290	CHRNA1	1134	HP:0000476	Cystic hygroma
OMIM:253290	CHRNA1	1134	HP:0000457	Depressed nasal ridge
OMIM:253290	CHRNA1	1134	HP:0001561	Polyhydramnios
OMIM:253290	CHRNA1	1134	HP:0000252	Microcephaly
OMIM:253290	CHRNA1	1134	HP:0002566	Intestinal malrotation
OMIM:253290	CHRNA1	1134	HP:0000465	Webbed neck
OMIM:253290	CHRNA1	1134	HP:0000028	Cryptorchidism
OMIM:253290	CHRNA1	1134	HP:0001789	Hydrops fetalis
OMIM:253290	CHRNA1	1134	HP:0002659	Increased susceptibility to fractures
OMIM:253290	CHRNA1	1134	HP:0100240	Synostosis of joints
OMIM:253290	CHRNA1	1134	HP:0000369	Low-set ears
OMIM:253290	CHRNA1	1134	HP:0002089	Pulmonary hypoplasia
OMIM:253290	CHRNA1	1134	HP:0000969	Edema
OMIM:253290	CHRNA1	1134	HP:0000366	Abnormality of the nose
OMIM:253290	CHRNA1	1134	HP:0000582	Upslanted palpebral fissure
OMIM:253290	CHRNA1	1134	HP:0009381	Short finger
OMIM:607595	COL4A1	1282	HP:0001136	Retinal arteriolar tortuosity
OMIM:607595	COL4A1	1282	HP:0000486	Strabismus
OMIM:607595	COL4A1	1282	HP:0007894	Hypopigmentation of the fundus
OMIM:607595	COL4A1	1282	HP:0000482	Microcornea
OMIM:607595	COL4A1	1282	HP:0000541	Retinal detachment
OMIM:607595	COL4A1	1282	HP:0000483	Astigmatism
OMIM:607595	COL4A1	1282	HP:0000540	Hypermetropia
OMIM:607595	COL4A1	1282	HP:0000575	Scotoma
OMIM:607595	COL4A1	1282	HP:0001250	Seizures
OMIM:607595	COL4A1	1282	HP:0007957	Corneal opacity
OMIM:607595	COL4A1	1282	HP:0000519	Congenital cataract
OMIM:607595	COL4A1	1282	HP:0000006	Autosomal dominant inheritance
OMIM:607595	COL4A1	1282	HP:0000622	Blurred vision
OMIM:607595	COL4A1	1282	HP:0000568	Microphthalmia
OMIM:607595	COL4A1	1282	HP:0000501	Glaucoma
OMIM:607595	COL4A1	1282	HP:0001256	Intellectual disability, mild
OMIM:607595	COL4A1	1282	HP:0000545	Myopia
OMIM:607595	COL4A1	1282	HP:0000646	Amblyopia
OMIM:607595	COL4A1	1282	HP:0002132	Porencephaly
ORPHANET:3237	GDF5	8200	HP:0009602	Abnormality of thumb phalanx
ORPHANET:3237	GDF5	8200	HP:0010579	Cone-shaped epiphysis
ORPHANET:3237	GDF5	8200	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHANET:3237	GDF5	8200	HP:0000954	Single transverse palmar crease
ORPHANET:3237	GDF5	8200	HP:0001597	Abnormality of the nail
ORPHANET:3237	GDF5	8200	HP:0001376	Limitation of joint mobility
ORPHANET:3237	GDF5	8200	HP:0000405	Conductive hearing impairment
ORPHANET:3237	GDF5	8200	HP:0001156	Brachydactyly syndrome
ORPHANET:3237	GDF5	8200	HP:0000324	Facial asymmetry
ORPHANET:3237	NOG	9241	HP:0009602	Abnormality of thumb phalanx
ORPHANET:3237	NOG	9241	HP:0010579	Cone-shaped epiphysis
ORPHANET:3237	NOG	9241	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHANET:3237	NOG	9241	HP:0000954	Single transverse palmar crease
ORPHANET:3237	NOG	9241	HP:0001597	Abnormality of the nail
ORPHANET:3237	NOG	9241	HP:0001376	Limitation of joint mobility
ORPHANET:3237	NOG	9241	HP:0000405	Conductive hearing impairment
ORPHANET:3237	NOG	9241	HP:0001156	Brachydactyly syndrome
ORPHANET:3237	NOG	9241	HP:0000324	Facial asymmetry
ORPHANET:3237	FGF9	2254	HP:0009602	Abnormality of thumb phalanx
ORPHANET:3237	FGF9	2254	HP:0010579	Cone-shaped epiphysis
ORPHANET:3237	FGF9	2254	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHANET:3237	FGF9	2254	HP:0000954	Single transverse palmar crease
ORPHANET:3237	FGF9	2254	HP:0001597	Abnormality of the nail
ORPHANET:3237	FGF9	2254	HP:0001376	Limitation of joint mobility
ORPHANET:3237	FGF9	2254	HP:0000405	Conductive hearing impairment
ORPHANET:3237	FGF9	2254	HP:0001156	Brachydactyly syndrome
ORPHANET:3237	FGF9	2254	HP:0000324	Facial asymmetry
OMIM:616056	KCNB1	3745	HP:0001252	Muscular hypotonia
OMIM:616056	KCNB1	3745	HP:0002521	Hypsarrhythmia
OMIM:616056	KCNB1	3745	HP:0001263	Global developmental delay
OMIM:616056	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:616056	PIGQ	9091	HP:0001252	Muscular hypotonia
OMIM:616056	PIGQ	9091	HP:0002521	Hypsarrhythmia
OMIM:616056	PIGQ	9091	HP:0001263	Global developmental delay
OMIM:616056	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:616056	SLC25A22	79751	HP:0001252	Muscular hypotonia
OMIM:616056	SLC25A22	79751	HP:0002521	Hypsarrhythmia
OMIM:616056	SLC25A22	79751	HP:0001263	Global developmental delay
OMIM:616056	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:616056	CDKL5	6792	HP:0001252	Muscular hypotonia
OMIM:616056	CDKL5	6792	HP:0002521	Hypsarrhythmia
OMIM:616056	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:616056	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:616056	KCNQ2	3785	HP:0001252	Muscular hypotonia
OMIM:616056	KCNQ2	3785	HP:0002521	Hypsarrhythmia
OMIM:616056	KCNQ2	3785	HP:0001263	Global developmental delay
OMIM:616056	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:616056	SLC13A5	284111	HP:0001252	Muscular hypotonia
OMIM:616056	SLC13A5	284111	HP:0002521	Hypsarrhythmia
OMIM:616056	SLC13A5	284111	HP:0001263	Global developmental delay
OMIM:616056	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:616056	SIK1	150094	HP:0001252	Muscular hypotonia
OMIM:616056	SIK1	150094	HP:0002521	Hypsarrhythmia
OMIM:616056	SIK1	150094	HP:0001263	Global developmental delay
OMIM:616056	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:616056	HCN1	348980	HP:0001252	Muscular hypotonia
OMIM:616056	HCN1	348980	HP:0002521	Hypsarrhythmia
OMIM:616056	HCN1	348980	HP:0001263	Global developmental delay
OMIM:616056	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:616056	PNKP	11284	HP:0001252	Muscular hypotonia
OMIM:616056	PNKP	11284	HP:0002521	Hypsarrhythmia
OMIM:616056	PNKP	11284	HP:0001263	Global developmental delay
OMIM:616056	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:616056	SCN2A	6326	HP:0001252	Muscular hypotonia
OMIM:616056	SCN2A	6326	HP:0002521	Hypsarrhythmia
OMIM:616056	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:616056	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:616056	GNAO1	2775	HP:0001252	Muscular hypotonia
OMIM:616056	GNAO1	2775	HP:0002521	Hypsarrhythmia
OMIM:616056	GNAO1	2775	HP:0001263	Global developmental delay
OMIM:616056	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:616056	NECAP1	25977	HP:0001252	Muscular hypotonia
OMIM:616056	NECAP1	25977	HP:0002521	Hypsarrhythmia
OMIM:616056	NECAP1	25977	HP:0001263	Global developmental delay
OMIM:616056	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:616056	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:616056	ARX	170302	HP:0002521	Hypsarrhythmia
OMIM:616056	ARX	170302	HP:0001263	Global developmental delay
OMIM:616056	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:616056	STXBP1	6812	HP:0001252	Muscular hypotonia
OMIM:616056	STXBP1	6812	HP:0002521	Hypsarrhythmia
OMIM:616056	STXBP1	6812	HP:0001263	Global developmental delay
OMIM:616056	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:616056	WWOX	51741	HP:0001252	Muscular hypotonia
OMIM:616056	WWOX	51741	HP:0002521	Hypsarrhythmia
OMIM:616056	WWOX	51741	HP:0001263	Global developmental delay
OMIM:616056	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:616056	CASK	8573	HP:0001252	Muscular hypotonia
OMIM:616056	CASK	8573	HP:0002521	Hypsarrhythmia
OMIM:616056	CASK	8573	HP:0001263	Global developmental delay
OMIM:616056	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:616056	SCN8A	6334	HP:0001252	Muscular hypotonia
OMIM:616056	SCN8A	6334	HP:0002521	Hypsarrhythmia
OMIM:616056	SCN8A	6334	HP:0001263	Global developmental delay
OMIM:616056	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:616056	DNM1	1759	HP:0001252	Muscular hypotonia
OMIM:616056	DNM1	1759	HP:0002521	Hypsarrhythmia
OMIM:616056	DNM1	1759	HP:0001263	Global developmental delay
OMIM:616056	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:612158	TPM1	7168	HP:0005110	Atrial fibrillation
OMIM:612158	TPM1	7168	HP:0001712	Left ventricular hypertrophy
OMIM:612158	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:612158	TPM1	7168	HP:0001706	Endocardial fibroelastosis
OMIM:612158	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:612158	TPM1	7168	HP:0006685	Endocardial fibrosis
OMIM:612158	TPM1	7168	HP:0001678	Atrioventricular block
OMIM:612158	TPM1	7168	HP:0001695	Cardiac arrest
OMIM:612158	CRYAB	1410	HP:0005110	Atrial fibrillation
OMIM:612158	CRYAB	1410	HP:0001712	Left ventricular hypertrophy
OMIM:612158	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:612158	CRYAB	1410	HP:0001706	Endocardial fibroelastosis
OMIM:612158	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:612158	CRYAB	1410	HP:0006685	Endocardial fibrosis
OMIM:612158	CRYAB	1410	HP:0001678	Atrioventricular block
OMIM:612158	CRYAB	1410	HP:0001695	Cardiac arrest
OMIM:612158	ACTC1	70	HP:0005110	Atrial fibrillation
OMIM:612158	ACTC1	70	HP:0001712	Left ventricular hypertrophy
OMIM:612158	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:612158	ACTC1	70	HP:0001706	Endocardial fibroelastosis
OMIM:612158	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:612158	ACTC1	70	HP:0006685	Endocardial fibrosis
OMIM:612158	ACTC1	70	HP:0001678	Atrioventricular block
OMIM:612158	ACTC1	70	HP:0001695	Cardiac arrest
OMIM:612158	RAF1	5894	HP:0005110	Atrial fibrillation
OMIM:612158	RAF1	5894	HP:0001712	Left ventricular hypertrophy
OMIM:612158	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:612158	RAF1	5894	HP:0001706	Endocardial fibroelastosis
OMIM:612158	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:612158	RAF1	5894	HP:0006685	Endocardial fibrosis
OMIM:612158	RAF1	5894	HP:0001678	Atrioventricular block
OMIM:612158	RAF1	5894	HP:0001695	Cardiac arrest
OMIM:612158	GATAD1	57798	HP:0005110	Atrial fibrillation
OMIM:612158	GATAD1	57798	HP:0001712	Left ventricular hypertrophy
OMIM:612158	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:612158	GATAD1	57798	HP:0001706	Endocardial fibroelastosis
OMIM:612158	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:612158	GATAD1	57798	HP:0006685	Endocardial fibrosis
OMIM:612158	GATAD1	57798	HP:0001678	Atrioventricular block
OMIM:612158	GATAD1	57798	HP:0001695	Cardiac arrest
OMIM:612158	LAMA4	3910	HP:0005110	Atrial fibrillation
OMIM:612158	LAMA4	3910	HP:0001712	Left ventricular hypertrophy
OMIM:612158	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:612158	LAMA4	3910	HP:0001706	Endocardial fibroelastosis
OMIM:612158	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:612158	LAMA4	3910	HP:0006685	Endocardial fibrosis
OMIM:612158	LAMA4	3910	HP:0001678	Atrioventricular block
OMIM:612158	LAMA4	3910	HP:0001695	Cardiac arrest
OMIM:612158	TMPO	7112	HP:0005110	Atrial fibrillation
OMIM:612158	TMPO	7112	HP:0001712	Left ventricular hypertrophy
OMIM:612158	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:612158	TMPO	7112	HP:0001706	Endocardial fibroelastosis
OMIM:612158	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:612158	TMPO	7112	HP:0006685	Endocardial fibrosis
OMIM:612158	TMPO	7112	HP:0001678	Atrioventricular block
OMIM:612158	TMPO	7112	HP:0001695	Cardiac arrest
OMIM:612158	DES	1674	HP:0005110	Atrial fibrillation
OMIM:612158	DES	1674	HP:0001712	Left ventricular hypertrophy
OMIM:612158	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:612158	DES	1674	HP:0001706	Endocardial fibroelastosis
OMIM:612158	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:612158	DES	1674	HP:0006685	Endocardial fibrosis
OMIM:612158	DES	1674	HP:0001678	Atrioventricular block
OMIM:612158	DES	1674	HP:0001695	Cardiac arrest
OMIM:612158	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:612158	ABCC9	10060	HP:0001712	Left ventricular hypertrophy
OMIM:612158	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:612158	ABCC9	10060	HP:0001706	Endocardial fibroelastosis
OMIM:612158	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:612158	ABCC9	10060	HP:0006685	Endocardial fibrosis
OMIM:612158	ABCC9	10060	HP:0001678	Atrioventricular block
OMIM:612158	ABCC9	10060	HP:0001695	Cardiac arrest
OMIM:612158	MYH6	4624	HP:0005110	Atrial fibrillation
OMIM:612158	MYH6	4624	HP:0001712	Left ventricular hypertrophy
OMIM:612158	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:612158	MYH6	4624	HP:0001706	Endocardial fibroelastosis
OMIM:612158	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:612158	MYH6	4624	HP:0006685	Endocardial fibrosis
OMIM:612158	MYH6	4624	HP:0001678	Atrioventricular block
OMIM:612158	MYH6	4624	HP:0001695	Cardiac arrest
OMIM:612158	MYH7	4625	HP:0005110	Atrial fibrillation
OMIM:612158	MYH7	4625	HP:0001712	Left ventricular hypertrophy
OMIM:612158	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:612158	MYH7	4625	HP:0001706	Endocardial fibroelastosis
OMIM:612158	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:612158	MYH7	4625	HP:0006685	Endocardial fibrosis
OMIM:612158	MYH7	4625	HP:0001678	Atrioventricular block
OMIM:612158	MYH7	4625	HP:0001695	Cardiac arrest
OMIM:612158	LDB3	11155	HP:0005110	Atrial fibrillation
OMIM:612158	LDB3	11155	HP:0001712	Left ventricular hypertrophy
OMIM:612158	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:612158	LDB3	11155	HP:0001706	Endocardial fibroelastosis
OMIM:612158	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:612158	LDB3	11155	HP:0006685	Endocardial fibrosis
OMIM:612158	LDB3	11155	HP:0001678	Atrioventricular block
OMIM:612158	LDB3	11155	HP:0001695	Cardiac arrest
OMIM:612158	ACTN2	88	HP:0005110	Atrial fibrillation
OMIM:612158	ACTN2	88	HP:0001712	Left ventricular hypertrophy
OMIM:612158	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:612158	ACTN2	88	HP:0001706	Endocardial fibroelastosis
OMIM:612158	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:612158	ACTN2	88	HP:0006685	Endocardial fibrosis
OMIM:612158	ACTN2	88	HP:0001678	Atrioventricular block
OMIM:612158	ACTN2	88	HP:0001695	Cardiac arrest
OMIM:612158	TXNRD2	10587	HP:0005110	Atrial fibrillation
OMIM:612158	TXNRD2	10587	HP:0001712	Left ventricular hypertrophy
OMIM:612158	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:612158	TXNRD2	10587	HP:0001706	Endocardial fibroelastosis
OMIM:612158	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:612158	TXNRD2	10587	HP:0006685	Endocardial fibrosis
OMIM:612158	TXNRD2	10587	HP:0001678	Atrioventricular block
OMIM:612158	TXNRD2	10587	HP:0001695	Cardiac arrest
OMIM:612158	DMD	1756	HP:0005110	Atrial fibrillation
OMIM:612158	DMD	1756	HP:0001712	Left ventricular hypertrophy
OMIM:612158	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:612158	DMD	1756	HP:0001706	Endocardial fibroelastosis
OMIM:612158	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:612158	DMD	1756	HP:0006685	Endocardial fibrosis
OMIM:612158	DMD	1756	HP:0001678	Atrioventricular block
OMIM:612158	DMD	1756	HP:0001695	Cardiac arrest
OMIM:612158	TNNC1	7134	HP:0005110	Atrial fibrillation
OMIM:612158	TNNC1	7134	HP:0001712	Left ventricular hypertrophy
OMIM:612158	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:612158	TNNC1	7134	HP:0001706	Endocardial fibroelastosis
OMIM:612158	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:612158	TNNC1	7134	HP:0006685	Endocardial fibrosis
OMIM:612158	TNNC1	7134	HP:0001678	Atrioventricular block
OMIM:612158	TNNC1	7134	HP:0001695	Cardiac arrest
OMIM:612158	PSEN1	5663	HP:0005110	Atrial fibrillation
OMIM:612158	PSEN1	5663	HP:0001712	Left ventricular hypertrophy
OMIM:612158	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:612158	PSEN1	5663	HP:0001706	Endocardial fibroelastosis
OMIM:612158	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:612158	PSEN1	5663	HP:0006685	Endocardial fibrosis
OMIM:612158	PSEN1	5663	HP:0001678	Atrioventricular block
OMIM:612158	PSEN1	5663	HP:0001695	Cardiac arrest
OMIM:612158	PSEN2	5664	HP:0005110	Atrial fibrillation
OMIM:612158	PSEN2	5664	HP:0001712	Left ventricular hypertrophy
OMIM:612158	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:612158	PSEN2	5664	HP:0001706	Endocardial fibroelastosis
OMIM:612158	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:612158	PSEN2	5664	HP:0006685	Endocardial fibrosis
OMIM:612158	PSEN2	5664	HP:0001678	Atrioventricular block
OMIM:612158	PSEN2	5664	HP:0001695	Cardiac arrest
OMIM:612158	TNNI3	7137	HP:0005110	Atrial fibrillation
OMIM:612158	TNNI3	7137	HP:0001712	Left ventricular hypertrophy
OMIM:612158	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:612158	TNNI3	7137	HP:0001706	Endocardial fibroelastosis
OMIM:612158	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:612158	TNNI3	7137	HP:0006685	Endocardial fibrosis
OMIM:612158	TNNI3	7137	HP:0001678	Atrioventricular block
OMIM:612158	TNNI3	7137	HP:0001695	Cardiac arrest
OMIM:612158	FHL2	2274	HP:0005110	Atrial fibrillation
OMIM:612158	FHL2	2274	HP:0001712	Left ventricular hypertrophy
OMIM:612158	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:612158	FHL2	2274	HP:0001706	Endocardial fibroelastosis
OMIM:612158	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:612158	FHL2	2274	HP:0006685	Endocardial fibrosis
OMIM:612158	FHL2	2274	HP:0001678	Atrioventricular block
OMIM:612158	FHL2	2274	HP:0001695	Cardiac arrest
OMIM:612158	TNNT2	7139	HP:0005110	Atrial fibrillation
OMIM:612158	TNNT2	7139	HP:0001712	Left ventricular hypertrophy
OMIM:612158	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:612158	TNNT2	7139	HP:0001706	Endocardial fibroelastosis
OMIM:612158	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:612158	TNNT2	7139	HP:0006685	Endocardial fibrosis
OMIM:612158	TNNT2	7139	HP:0001678	Atrioventricular block
OMIM:612158	TNNT2	7139	HP:0001695	Cardiac arrest
OMIM:612158	DSG2	1829	HP:0005110	Atrial fibrillation
OMIM:612158	DSG2	1829	HP:0001712	Left ventricular hypertrophy
OMIM:612158	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:612158	DSG2	1829	HP:0001706	Endocardial fibroelastosis
OMIM:612158	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:612158	DSG2	1829	HP:0006685	Endocardial fibrosis
OMIM:612158	DSG2	1829	HP:0001678	Atrioventricular block
OMIM:612158	DSG2	1829	HP:0001695	Cardiac arrest
OMIM:612158	PLN	5350	HP:0005110	Atrial fibrillation
OMIM:612158	PLN	5350	HP:0001712	Left ventricular hypertrophy
OMIM:612158	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:612158	PLN	5350	HP:0001706	Endocardial fibroelastosis
OMIM:612158	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:612158	PLN	5350	HP:0006685	Endocardial fibrosis
OMIM:612158	PLN	5350	HP:0001678	Atrioventricular block
OMIM:612158	PLN	5350	HP:0001695	Cardiac arrest
OMIM:612158	PRDM16	63976	HP:0005110	Atrial fibrillation
OMIM:612158	PRDM16	63976	HP:0001712	Left ventricular hypertrophy
OMIM:612158	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:612158	PRDM16	63976	HP:0001706	Endocardial fibroelastosis
OMIM:612158	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:612158	PRDM16	63976	HP:0006685	Endocardial fibrosis
OMIM:612158	PRDM16	63976	HP:0001678	Atrioventricular block
OMIM:612158	PRDM16	63976	HP:0001695	Cardiac arrest
OMIM:612158	TTN	7273	HP:0005110	Atrial fibrillation
OMIM:612158	TTN	7273	HP:0001712	Left ventricular hypertrophy
OMIM:612158	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:612158	TTN	7273	HP:0001706	Endocardial fibroelastosis
OMIM:612158	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:612158	TTN	7273	HP:0006685	Endocardial fibrosis
OMIM:612158	TTN	7273	HP:0001678	Atrioventricular block
OMIM:612158	TTN	7273	HP:0001695	Cardiac arrest
OMIM:612158	NEXN	91624	HP:0005110	Atrial fibrillation
OMIM:612158	NEXN	91624	HP:0001712	Left ventricular hypertrophy
OMIM:612158	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:612158	NEXN	91624	HP:0001706	Endocardial fibroelastosis
OMIM:612158	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:612158	NEXN	91624	HP:0006685	Endocardial fibrosis
OMIM:612158	NEXN	91624	HP:0001678	Atrioventricular block
OMIM:612158	NEXN	91624	HP:0001695	Cardiac arrest
OMIM:612158	FKTN	2218	HP:0005110	Atrial fibrillation
OMIM:612158	FKTN	2218	HP:0001712	Left ventricular hypertrophy
OMIM:612158	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:612158	FKTN	2218	HP:0001706	Endocardial fibroelastosis
OMIM:612158	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:612158	FKTN	2218	HP:0006685	Endocardial fibrosis
OMIM:612158	FKTN	2218	HP:0001678	Atrioventricular block
OMIM:612158	FKTN	2218	HP:0001695	Cardiac arrest
OMIM:612158	SGCD	6444	HP:0005110	Atrial fibrillation
OMIM:612158	SGCD	6444	HP:0001712	Left ventricular hypertrophy
OMIM:612158	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:612158	SGCD	6444	HP:0001706	Endocardial fibroelastosis
OMIM:612158	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:612158	SGCD	6444	HP:0006685	Endocardial fibrosis
OMIM:612158	SGCD	6444	HP:0001678	Atrioventricular block
OMIM:612158	SGCD	6444	HP:0001695	Cardiac arrest
OMIM:612158	TCAP	8557	HP:0005110	Atrial fibrillation
OMIM:612158	TCAP	8557	HP:0001712	Left ventricular hypertrophy
OMIM:612158	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:612158	TCAP	8557	HP:0001706	Endocardial fibroelastosis
OMIM:612158	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:612158	TCAP	8557	HP:0006685	Endocardial fibrosis
OMIM:612158	TCAP	8557	HP:0001678	Atrioventricular block
OMIM:612158	TCAP	8557	HP:0001695	Cardiac arrest
OMIM:612158	CSRP3	8048	HP:0005110	Atrial fibrillation
OMIM:612158	CSRP3	8048	HP:0001712	Left ventricular hypertrophy
OMIM:612158	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:612158	CSRP3	8048	HP:0001706	Endocardial fibroelastosis
OMIM:612158	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:612158	CSRP3	8048	HP:0006685	Endocardial fibrosis
OMIM:612158	CSRP3	8048	HP:0001678	Atrioventricular block
OMIM:612158	CSRP3	8048	HP:0001695	Cardiac arrest
OMIM:612158	RBM20	282996	HP:0005110	Atrial fibrillation
OMIM:612158	RBM20	282996	HP:0001712	Left ventricular hypertrophy
OMIM:612158	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:612158	RBM20	282996	HP:0001706	Endocardial fibroelastosis
OMIM:612158	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:612158	RBM20	282996	HP:0006685	Endocardial fibrosis
OMIM:612158	RBM20	282996	HP:0001678	Atrioventricular block
OMIM:612158	RBM20	282996	HP:0001695	Cardiac arrest
OMIM:612158	SDHA	6389	HP:0005110	Atrial fibrillation
OMIM:612158	SDHA	6389	HP:0001712	Left ventricular hypertrophy
OMIM:612158	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:612158	SDHA	6389	HP:0001706	Endocardial fibroelastosis
OMIM:612158	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:612158	SDHA	6389	HP:0006685	Endocardial fibrosis
OMIM:612158	SDHA	6389	HP:0001678	Atrioventricular block
OMIM:612158	SDHA	6389	HP:0001695	Cardiac arrest
OMIM:612158	TAZ	6901	HP:0005110	Atrial fibrillation
OMIM:612158	TAZ	6901	HP:0001712	Left ventricular hypertrophy
OMIM:612158	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:612158	TAZ	6901	HP:0001706	Endocardial fibroelastosis
OMIM:612158	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:612158	TAZ	6901	HP:0006685	Endocardial fibrosis
OMIM:612158	TAZ	6901	HP:0001678	Atrioventricular block
OMIM:612158	TAZ	6901	HP:0001695	Cardiac arrest
OMIM:612158	VCL	7414	HP:0005110	Atrial fibrillation
OMIM:612158	VCL	7414	HP:0001712	Left ventricular hypertrophy
OMIM:612158	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:612158	VCL	7414	HP:0001706	Endocardial fibroelastosis
OMIM:612158	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:612158	VCL	7414	HP:0006685	Endocardial fibrosis
OMIM:612158	VCL	7414	HP:0001678	Atrioventricular block
OMIM:612158	VCL	7414	HP:0001695	Cardiac arrest
OMIM:612158	MYPN	84665	HP:0005110	Atrial fibrillation
OMIM:612158	MYPN	84665	HP:0001712	Left ventricular hypertrophy
OMIM:612158	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:612158	MYPN	84665	HP:0001706	Endocardial fibroelastosis
OMIM:612158	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:612158	MYPN	84665	HP:0006685	Endocardial fibrosis
OMIM:612158	MYPN	84665	HP:0001678	Atrioventricular block
OMIM:612158	MYPN	84665	HP:0001695	Cardiac arrest
OMIM:612158	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:612158	SCN5A	6331	HP:0001712	Left ventricular hypertrophy
OMIM:612158	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:612158	SCN5A	6331	HP:0001706	Endocardial fibroelastosis
OMIM:612158	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:612158	SCN5A	6331	HP:0006685	Endocardial fibrosis
OMIM:612158	SCN5A	6331	HP:0001678	Atrioventricular block
OMIM:612158	SCN5A	6331	HP:0001695	Cardiac arrest
OMIM:612158	BAG3	9531	HP:0005110	Atrial fibrillation
OMIM:612158	BAG3	9531	HP:0001712	Left ventricular hypertrophy
OMIM:612158	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:612158	BAG3	9531	HP:0001706	Endocardial fibroelastosis
OMIM:612158	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:612158	BAG3	9531	HP:0006685	Endocardial fibrosis
OMIM:612158	BAG3	9531	HP:0001678	Atrioventricular block
OMIM:612158	BAG3	9531	HP:0001695	Cardiac arrest
OMIM:612158	DOLK	22845	HP:0005110	Atrial fibrillation
OMIM:612158	DOLK	22845	HP:0001712	Left ventricular hypertrophy
OMIM:612158	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:612158	DOLK	22845	HP:0001706	Endocardial fibroelastosis
OMIM:612158	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:612158	DOLK	22845	HP:0006685	Endocardial fibrosis
OMIM:612158	DOLK	22845	HP:0001678	Atrioventricular block
OMIM:612158	DOLK	22845	HP:0001695	Cardiac arrest
OMIM:612158	MYBPC3	4607	HP:0005110	Atrial fibrillation
OMIM:612158	MYBPC3	4607	HP:0001712	Left ventricular hypertrophy
OMIM:612158	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:612158	MYBPC3	4607	HP:0001706	Endocardial fibroelastosis
OMIM:612158	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:612158	MYBPC3	4607	HP:0006685	Endocardial fibrosis
OMIM:612158	MYBPC3	4607	HP:0001678	Atrioventricular block
OMIM:612158	MYBPC3	4607	HP:0001695	Cardiac arrest
OMIM:611363	TBX20	57057	HP:0001680	Coarctation of aorta
OMIM:611363	TBX20	57057	HP:0000006	Autosomal dominant inheritance
OMIM:611363	TBX20	57057	HP:0001655	Patent foramen ovale
OMIM:153480	PTEN	5728	HP:0002027	Abdominal pain
OMIM:153480	PTEN	5728	HP:0000767	Pectus excavatum
OMIM:153480	PTEN	5728	HP:0000098	Tall stature
OMIM:153480	PTEN	5728	HP:0002170	Intracranial hemorrhage
OMIM:153480	PTEN	5728	HP:0000494	Downslanted palpebral fissures
OMIM:153480	PTEN	5728	HP:0100026	Arteriovenous malformation
OMIM:153480	PTEN	5728	HP:0000040	Long penis
OMIM:153480	PTEN	5728	HP:0001028	Hemangioma
OMIM:153480	PTEN	5728	HP:0001324	Muscle weakness
OMIM:153480	PTEN	5728	HP:0200008	Intestinal polyposis
OMIM:153480	PTEN	5728	HP:0001943	Hypoglycemia
OMIM:153480	PTEN	5728	HP:0002650	Scoliosis
OMIM:153480	PTEN	5728	HP:0003621	Juvenile onset
OMIM:153480	PTEN	5728	HP:0000486	Strabismus
OMIM:153480	PTEN	5728	HP:0000957	Cafe-au-lait spot
OMIM:153480	PTEN	5728	HP:0000717	Autism
OMIM:153480	PTEN	5728	HP:0001004	Lymphedema
OMIM:153480	PTEN	5728	HP:0000036	Abnormality of the penis
OMIM:153480	PTEN	5728	HP:0004322	Short stature
OMIM:153480	PTEN	5728	HP:0100031	Neoplasm of the thyroid gland
OMIM:153480	PTEN	5728	HP:0000256	Macrocephaly
OMIM:153480	PTEN	5728	HP:0000965	Cutis marmorata
OMIM:153480	PTEN	5728	HP:0001034	Hypermelanotic macule
OMIM:153480	PTEN	5728	HP:0100543	Cognitive impairment
OMIM:153480	PTEN	5728	HP:0002007	Frontal bossing
OMIM:153480	PTEN	5728	HP:0000268	Dolichocephaly
OMIM:153480	PTEN	5728	HP:0000646	Amblyopia
OMIM:153480	PTEN	5728	HP:0001928	Abnormality of coagulation
OMIM:153480	PTEN	5728	HP:0001250	Seizures
OMIM:153480	PTEN	5728	HP:0000174	Abnormality of the palate
OMIM:153480	PTEN	5728	HP:0009726	Renal neoplasm
OMIM:153480	PTEN	5728	HP:0001252	Muscular hypotonia
OMIM:153480	PTEN	5728	HP:0000218	High palate
OMIM:153480	PTEN	5728	HP:0002652	Skeletal dysplasia
OMIM:153480	PTEN	5728	HP:0002167	Neurological speech impairment
OMIM:153480	PTEN	5728	HP:0000648	Optic atrophy
OMIM:153480	PTEN	5728	HP:0000750	Delayed speech and language development
OMIM:153480	PTEN	5728	HP:0001724	Aortic dilatation
OMIM:153480	PTEN	5728	HP:0001382	Joint hypermobility
OMIM:153480	PTEN	5728	HP:0005214	Intestinal obstruction
OMIM:153480	PTEN	5728	HP:0002239	Gastrointestinal hemorrhage
OMIM:153480	PTEN	5728	HP:0001677	Coronary artery disease
OMIM:153480	PTEN	5728	HP:0003198	Myopathy
OMIM:153480	PTEN	5728	HP:0002858	Meningioma
OMIM:153480	PTEN	5728	HP:0000006	Autosomal dominant inheritance
OMIM:153480	PTEN	5728	HP:0002194	Delayed gross motor development
OMIM:153480	PTEN	5728	HP:0001163	Abnormality of the metacarpal bones
OMIM:153480	PTEN	5728	HP:0001249	Intellectual disability
OMIM:153480	PTEN	5728	HP:0100585	Telangiectasia of the skin
OMIM:153480	PTEN	5728	HP:0004325	Decreased body weight
OMIM:153480	PTEN	5728	HP:0000343	Long philtrum
OMIM:153480	PTEN	5728	HP:0100646	Thyroiditis
OMIM:153480	PTEN	5728	HP:0100013	Neoplasm of the breast
OMIM:153480	PTEN	5728	HP:0000956	Acanthosis nigricans
OMIM:153480	PTEN	5728	HP:0000400	Macrotia
OMIM:153480	PTEN	5728	HP:0001513	Obesity
OMIM:153480	PTEN	5728	HP:0009602	Abnormality of thumb phalanx
OMIM:153480	PTEN	5728	HP:0008897	Postnatal growth retardation
OMIM:153480	PTEN	5728	HP:0000347	Micrognathia
OMIM:153480	PTEN	5728	HP:0002573	Hematochezia
OMIM:153480	PTEN	5728	HP:0002576	Intussusception
OMIM:153480	PTEN	5728	HP:0000505	Visual impairment
OMIM:153480	PTEN	5728	HP:0003196	Short nose
OMIM:153480	PTEN	5728	HP:0002558	Supernumerary nipple
OMIM:153480	PTEN	5728	HP:0000463	Anteverted nares
OMIM:308905	COX1	4512	HP:0000648	Optic atrophy
OMIM:308905	COX1	4512	HP:0001417	X-linked inheritance
OMIM:308905	COX3	4514	HP:0000648	Optic atrophy
OMIM:308905	COX3	4514	HP:0001417	X-linked inheritance
OMIM:308905	CYTB	4519	HP:0000648	Optic atrophy
OMIM:308905	CYTB	4519	HP:0001417	X-linked inheritance
OMIM:308905	ND1	4535	HP:0000648	Optic atrophy
OMIM:308905	ND1	4535	HP:0001417	X-linked inheritance
OMIM:308905	ND2	4536	HP:0000648	Optic atrophy
OMIM:308905	ND2	4536	HP:0001417	X-linked inheritance
OMIM:308905	ND4	4538	HP:0000648	Optic atrophy
OMIM:308905	ND4	4538	HP:0001417	X-linked inheritance
OMIM:308905	ND4L	4539	HP:0000648	Optic atrophy
OMIM:308905	ND4L	4539	HP:0001417	X-linked inheritance
OMIM:308905	ATP6	4508	HP:0000648	Optic atrophy
OMIM:308905	ATP6	4508	HP:0001417	X-linked inheritance
OMIM:308905	ND5	4540	HP:0000648	Optic atrophy
OMIM:308905	ND5	4540	HP:0001417	X-linked inheritance
OMIM:308905	ND6	4541	HP:0000648	Optic atrophy
OMIM:308905	ND6	4541	HP:0001417	X-linked inheritance
ORPHANET:93160	VDR	7421	HP:0001596	Alopecia
ORPHANET:93160	VDR	7421	HP:0002901	Hypocalcemia
ORPHANET:93160	VDR	7421	HP:0002650	Scoliosis
ORPHANET:93160	VDR	7421	HP:0002857	Genu valgum
ORPHANET:93160	VDR	7421	HP:0002970	Genu varum
ORPHANET:93160	VDR	7421	HP:0004349	Reduced bone mineral density
ORPHANET:93160	VDR	7421	HP:0000787	Nephrolithiasis
ORPHANET:93160	VDR	7421	HP:0001288	Gait disturbance
ORPHANET:93160	VDR	7421	HP:0000944	Abnormality of the metaphyses
ORPHANET:93160	VDR	7421	HP:0003312	Abnormal form of the vertebral bodies
ORPHANET:93160	VDR	7421	HP:0003272	Abnormality of the hip bone
ORPHANET:93160	VDR	7421	HP:0002148	Hypophosphatemia
ORPHANET:93160	VDR	7421	HP:0002757	Recurrent fractures
ORPHANET:93160	VDR	7421	HP:0002653	Bone pain
ORPHANET:93160	VDR	7421	HP:0002007	Frontal bossing
ORPHANET:93160	VDR	7421	HP:0000268	Dolichocephaly
ORPHANET:93160	VDR	7421	HP:0000843	Hyperparathyroidism
ORPHANET:93160	VDR	7421	HP:0002797	Osteolysis
ORPHANET:93160	VDR	7421	HP:0009124	Abnormality of adipose tissue
ORPHANET:93160	VDR	7421	HP:0000765	Abnormality of the thorax
ORPHANET:93160	VDR	7421	HP:0004322	Short stature
OMIM:166250	FGFR1	2260	HP:0002650	Scoliosis
OMIM:166250	FGFR1	2260	HP:0001363	Craniosynostosis
OMIM:166250	FGFR1	2260	HP:0000303	Mandibular prognathia
OMIM:166250	FGFR1	2260	HP:0000369	Low-set ears
OMIM:166250	FGFR1	2260	HP:0000926	Platyspondyly
OMIM:166250	FGFR1	2260	HP:0008905	Rhizomelia
OMIM:166250	FGFR1	2260	HP:0006487	Bowing of the long bones
OMIM:166250	FGFR1	2260	HP:0001773	Short foot
OMIM:166250	FGFR1	2260	HP:0000463	Anteverted nares
OMIM:166250	FGFR1	2260	HP:0010743	Short metatarsal
OMIM:166250	FGFR1	2260	HP:0006009	Broad phalanx
OMIM:166250	FGFR1	2260	HP:0002098	Respiratory distress
OMIM:166250	FGFR1	2260	HP:0003196	Short nose
OMIM:166250	FGFR1	2260	HP:0004299	Hernia of the abdominal wall
OMIM:166250	FGFR1	2260	HP:0001508	Failure to thrive
OMIM:166250	FGFR1	2260	HP:0004322	Short stature
OMIM:166250	FGFR1	2260	HP:0000316	Hypertelorism
OMIM:166250	FGFR1	2260	HP:0002750	Delayed skeletal maturation
OMIM:166250	FGFR1	2260	HP:0005280	Depressed nasal bridge
OMIM:166250	FGFR1	2260	HP:0009826	Limb undergrowth
OMIM:166250	FGFR1	2260	HP:0009803	Short phalanx of finger
OMIM:166250	FGFR1	2260	HP:0003312	Abnormal form of the vertebral bodies
OMIM:166250	FGFR1	2260	HP:0011800	Hypoplasia of midface
OMIM:166250	FGFR1	2260	HP:0000218	High palate
OMIM:166250	FGFR1	2260	HP:0000453	Choanal atresia
OMIM:166250	FGFR1	2260	HP:0000889	Abnormality of the clavicle
OMIM:166250	FGFR1	2260	HP:0000041	Chordee
OMIM:166250	FGFR1	2260	HP:0000023	Inguinal hernia
OMIM:166250	FGFR1	2260	HP:0000343	Long philtrum
OMIM:166250	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:166250	FGFR1	2260	HP:0001156	Brachydactyly syndrome
OMIM:166250	FGFR1	2260	HP:0009804	Reduced number of teeth
OMIM:166250	FGFR1	2260	HP:0002007	Frontal bossing
OMIM:166250	FGFR1	2260	HP:0004279	Short palm
OMIM:166250	FGFR1	2260	HP:0000470	Short neck
OMIM:166250	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:166250	FGFR1	2260	HP:0001800	Hypoplastic toenails
OMIM:166250	FGFR1	2260	HP:0010049	Short metacarpal
OMIM:166250	FGFR1	2260	HP:0004348	Abnormality of bone mineral density
OMIM:166250	FGFR1	2260	HP:0000494	Downslanted palpebral fissures
OMIM:166250	FGFR1	2260	HP:0000882	Hypoplastic scapulae
OMIM:166250	FGFR1	2260	HP:0002659	Increased susceptibility to fractures
OMIM:166250	FGFR1	2260	HP:0100543	Cognitive impairment
OMIM:166250	FGFR1	2260	HP:0000347	Micrognathia
OMIM:166250	FGFR1	2260	HP:0001739	Abnormality of the nasopharynx
OMIM:166250	FGFR1	2260	HP:0000750	Delayed speech and language development
OMIM:166250	FGFR1	2260	HP:0000047	Hypospadias
OMIM:166250	FGFR1	2260	HP:0000272	Malar flattening
OMIM:166250	FGFR1	2260	HP:0000377	Abnormality of the pinna
OMIM:612703	ASPM	259266	HP:0001249	Intellectual disability
OMIM:612703	ASPM	259266	HP:0000252	Microcephaly
OMIM:612703	ASPM	259266	HP:0000007	Autosomal recessive inheritance
OMIM:612703	MCPH1	79648	HP:0001249	Intellectual disability
OMIM:612703	MCPH1	79648	HP:0000252	Microcephaly
OMIM:612703	MCPH1	79648	HP:0000007	Autosomal recessive inheritance
OMIM:612703	ANKLE2	23141	HP:0001249	Intellectual disability
OMIM:612703	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:612703	ANKLE2	23141	HP:0000007	Autosomal recessive inheritance
OMIM:612703	SASS6	163786	HP:0001249	Intellectual disability
OMIM:612703	SASS6	163786	HP:0000252	Microcephaly
OMIM:612703	SASS6	163786	HP:0000007	Autosomal recessive inheritance
OMIM:612703	CDK5RAP2	55755	HP:0001249	Intellectual disability
OMIM:612703	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:612703	CDK5RAP2	55755	HP:0000007	Autosomal recessive inheritance
OMIM:612703	MFSD2A	84879	HP:0001249	Intellectual disability
OMIM:612703	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:612703	MFSD2A	84879	HP:0000007	Autosomal recessive inheritance
OMIM:612703	CEP152	22995	HP:0001249	Intellectual disability
OMIM:612703	CEP152	22995	HP:0000252	Microcephaly
OMIM:612703	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:612703	WDR62	284403	HP:0001249	Intellectual disability
OMIM:612703	WDR62	284403	HP:0000252	Microcephaly
OMIM:612703	WDR62	284403	HP:0000007	Autosomal recessive inheritance
OMIM:612703	PHC1	1911	HP:0001249	Intellectual disability
OMIM:612703	PHC1	1911	HP:0000252	Microcephaly
OMIM:612703	PHC1	1911	HP:0000007	Autosomal recessive inheritance
OMIM:612703	CASC5	57082	HP:0001249	Intellectual disability
OMIM:612703	CASC5	57082	HP:0000252	Microcephaly
OMIM:612703	CASC5	57082	HP:0000007	Autosomal recessive inheritance
OMIM:612703	STIL	6491	HP:0001249	Intellectual disability
OMIM:612703	STIL	6491	HP:0000252	Microcephaly
OMIM:612703	STIL	6491	HP:0000007	Autosomal recessive inheritance
OMIM:612703	CENPJ	55835	HP:0001249	Intellectual disability
OMIM:612703	CENPJ	55835	HP:0000252	Microcephaly
OMIM:612703	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:612703	CDK6	1021	HP:0001249	Intellectual disability
OMIM:612703	CDK6	1021	HP:0000252	Microcephaly
OMIM:612703	CDK6	1021	HP:0000007	Autosomal recessive inheritance
OMIM:612703	CEP135	9662	HP:0001249	Intellectual disability
OMIM:612703	CEP135	9662	HP:0000252	Microcephaly
OMIM:612703	CEP135	9662	HP:0000007	Autosomal recessive inheritance
OMIM:612703	CEP63	80254	HP:0001249	Intellectual disability
OMIM:612703	CEP63	80254	HP:0000252	Microcephaly
OMIM:612703	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:133780	FZD4	8322	HP:0000523	Subcapsular cataract
OMIM:133780	FZD4	8322	HP:0003677	Slow progression
OMIM:133780	FZD4	8322	HP:0002757	Recurrent fractures
OMIM:133780	FZD4	8322	HP:0007663	Reduced visual acuity
OMIM:133780	FZD4	8322	HP:0003593	Infantile onset
OMIM:133780	FZD4	8322	HP:0000541	Retinal detachment
OMIM:133780	FZD4	8322	HP:0000618	Blindness
OMIM:133780	FZD4	8322	HP:0000006	Autosomal dominant inheritance
OMIM:133780	FZD4	8322	HP:0001146	Pigmentary retinal degeneration
OMIM:133780	TSPAN12	23554	HP:0000523	Subcapsular cataract
OMIM:133780	TSPAN12	23554	HP:0003677	Slow progression
OMIM:133780	TSPAN12	23554	HP:0002757	Recurrent fractures
OMIM:133780	TSPAN12	23554	HP:0007663	Reduced visual acuity
OMIM:133780	TSPAN12	23554	HP:0003593	Infantile onset
OMIM:133780	TSPAN12	23554	HP:0000541	Retinal detachment
OMIM:133780	TSPAN12	23554	HP:0000618	Blindness
OMIM:133780	TSPAN12	23554	HP:0000006	Autosomal dominant inheritance
OMIM:133780	TSPAN12	23554	HP:0001146	Pigmentary retinal degeneration
OMIM:133780	ZNF408	79797	HP:0000523	Subcapsular cataract
OMIM:133780	ZNF408	79797	HP:0003677	Slow progression
OMIM:133780	ZNF408	79797	HP:0002757	Recurrent fractures
OMIM:133780	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:133780	ZNF408	79797	HP:0003593	Infantile onset
OMIM:133780	ZNF408	79797	HP:0000541	Retinal detachment
OMIM:133780	ZNF408	79797	HP:0000618	Blindness
OMIM:133780	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:133780	ZNF408	79797	HP:0001146	Pigmentary retinal degeneration
OMIM:133780	NDP	4693	HP:0000523	Subcapsular cataract
OMIM:133780	NDP	4693	HP:0003677	Slow progression
OMIM:133780	NDP	4693	HP:0002757	Recurrent fractures
OMIM:133780	NDP	4693	HP:0007663	Reduced visual acuity
OMIM:133780	NDP	4693	HP:0003593	Infantile onset
OMIM:133780	NDP	4693	HP:0000541	Retinal detachment
OMIM:133780	NDP	4693	HP:0000618	Blindness
OMIM:133780	NDP	4693	HP:0000006	Autosomal dominant inheritance
OMIM:133780	NDP	4693	HP:0001146	Pigmentary retinal degeneration
OMIM:133780	LRP5	4041	HP:0000523	Subcapsular cataract
OMIM:133780	LRP5	4041	HP:0003677	Slow progression
OMIM:133780	LRP5	4041	HP:0002757	Recurrent fractures
OMIM:133780	LRP5	4041	HP:0007663	Reduced visual acuity
OMIM:133780	LRP5	4041	HP:0003593	Infantile onset
OMIM:133780	LRP5	4041	HP:0000541	Retinal detachment
OMIM:133780	LRP5	4041	HP:0000618	Blindness
OMIM:133780	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:133780	LRP5	4041	HP:0001146	Pigmentary retinal degeneration
OMIM:616617	PEX1	5189	HP:0001763	Pes planus
OMIM:616617	PEX1	5189	HP:0000678	Dental crowding
OMIM:616617	PEX6	5190	HP:0001763	Pes planus
OMIM:616617	PEX6	5190	HP:0000678	Dental crowding
OMIM:615400	CNTN2	6900	HP:0001337	Tremor
OMIM:615400	CNTN2	6900	HP:0000007	Autosomal recessive inheritance
OMIM:615400	CNTN2	6900	HP:0001250	Seizures
OMIM:615400	ADRA2B	151	HP:0001337	Tremor
OMIM:615400	ADRA2B	151	HP:0000007	Autosomal recessive inheritance
OMIM:615400	ADRA2B	151	HP:0001250	Seizures
OMIM:611087	STRADA	92335	HP:0001252	Muscular hypotonia
OMIM:611087	STRADA	92335	HP:0000873	Diabetes insipidus
OMIM:611087	STRADA	92335	HP:0000431	Wide nasal bridge
OMIM:611087	STRADA	92335	HP:0001622	Premature birth
OMIM:611087	STRADA	92335	HP:0000276	Long face
OMIM:611087	STRADA	92335	HP:0000007	Autosomal recessive inheritance
OMIM:611087	STRADA	92335	HP:0000121	Nephrocalcinosis
OMIM:611087	STRADA	92335	HP:0000179	Thick lower lip vermilion
OMIM:611087	STRADA	92335	HP:0000215	Thick upper lip vermilion
OMIM:611087	STRADA	92335	HP:0000154	Wide mouth
OMIM:611087	STRADA	92335	HP:0000316	Hypertelorism
OMIM:611087	STRADA	92335	HP:0001263	Global developmental delay
OMIM:611087	STRADA	92335	HP:0001631	Atria septal defect
OMIM:611087	STRADA	92335	HP:0000256	Macrocephaly
OMIM:611087	STRADA	92335	HP:0001561	Polyhydramnios
OMIM:615688	CECR1	51816	HP:0000713	Agitation
OMIM:615688	CECR1	51816	HP:0001903	Anemia
OMIM:615688	CECR1	51816	HP:0002910	Elevated hepatic transaminases
OMIM:615688	CECR1	51816	HP:0000965	Cutis marmorata
OMIM:615688	CECR1	51816	HP:0001945	Fever
OMIM:615688	CECR1	51816	HP:0004313	Decreased antibody level in blood
OMIM:615688	CECR1	51816	HP:0002240	Hepatomegaly
OMIM:615688	CECR1	51816	HP:0003326	Myalgia
OMIM:615688	CECR1	51816	HP:0002315	Headache
OMIM:615688	CECR1	51816	HP:0001882	Leukopenia
OMIM:615688	CECR1	51816	HP:0000602	Ophthalmoplegia
OMIM:615688	CECR1	51816	HP:0002381	Aphasia
OMIM:615688	CECR1	51816	HP:0002721	Immunodeficiency
OMIM:615688	CECR1	51816	HP:0000007	Autosomal recessive inheritance
OMIM:615688	CECR1	51816	HP:0001251	Ataxia
OMIM:615688	CECR1	51816	HP:0000648	Optic atrophy
OMIM:615688	CECR1	51816	HP:0001974	Leukocytosis
OMIM:615688	CECR1	51816	HP:0003828	Variable expressivity
OMIM:615688	CECR1	51816	HP:0001894	Thrombocytosis
OMIM:615688	CECR1	51816	HP:0009830	Peripheral neuropathy
OMIM:615688	CECR1	51816	HP:0001369	Arthritis
OMIM:615688	CECR1	51816	HP:0000979	Purpura
OMIM:615688	CECR1	51816	HP:0001744	Splenomegaly
OMIM:615688	CECR1	51816	HP:0002617	Aneurysm
OMIM:615688	CECR1	51816	HP:0000822	Hypertension
OMIM:613881	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:613881	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:613881	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:613881	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:613881	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:613881	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:613881	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613881	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:613881	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:613881	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:613881	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:613881	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:613881	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613881	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:613881	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:613881	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:613881	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:613881	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:613881	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613881	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:613881	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:613881	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:613881	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:613881	DES	1674	HP:0001635	Congestive heart failure
OMIM:613881	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:613881	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:613881	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:613881	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:613881	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:613881	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:613881	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613881	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:613881	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:613881	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:613881	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:613881	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:613881	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:613881	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:613881	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:613881	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:613881	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:613881	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:613881	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:613881	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:613881	DMD	1756	HP:0001635	Congestive heart failure
OMIM:613881	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:613881	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:613881	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:613881	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613881	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:613881	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:613881	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:613881	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:613881	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:613881	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:613881	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:613881	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:613881	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:613881	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:613881	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:613881	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:613881	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:613881	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:613881	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:613881	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:613881	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:613881	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:613881	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:613881	PLN	5350	HP:0001635	Congestive heart failure
OMIM:613881	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:613881	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:613881	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:613881	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613881	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:613881	TTN	7273	HP:0001635	Congestive heart failure
OMIM:613881	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:613881	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:613881	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:613881	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:613881	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:613881	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:613881	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:613881	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:613881	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:613881	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:613881	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:613881	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:613881	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:613881	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:613881	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:613881	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:613881	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:613881	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:613881	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:613881	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:613881	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:613881	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:613881	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:613881	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:613881	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:613881	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:613881	VCL	7414	HP:0001635	Congestive heart failure
OMIM:613881	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:613881	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:613881	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:613881	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:613881	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:613881	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:613881	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:613881	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613881	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:613881	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:613881	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:613881	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:613881	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:613881	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:613881	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:608930	MUSK	4593	HP:0003391	Gowers sign
OMIM:608930	MUSK	4593	HP:0000347	Micrognathia
OMIM:608930	MUSK	4593	HP:0002650	Scoliosis
OMIM:608930	MUSK	4593	HP:0000007	Autosomal recessive inheritance
OMIM:608930	MUSK	4593	HP:0003828	Variable expressivity
OMIM:608930	MUSK	4593	HP:0001283	Bulbar palsy
OMIM:608930	MUSK	4593	HP:0003593	Infantile onset
OMIM:608930	MUSK	4593	HP:0002015	Dysphagia
OMIM:608930	MUSK	4593	HP:0001252	Muscular hypotonia
OMIM:608930	MUSK	4593	HP:0000400	Macrotia
OMIM:608930	MUSK	4593	HP:0001260	Dysarthria
OMIM:608930	MUSK	4593	HP:0002033	Poor suck
OMIM:608930	MUSK	4593	HP:0000467	Neck muscle weakness
OMIM:608930	MUSK	4593	HP:0000597	Ophthalmoparesis
OMIM:608930	MUSK	4593	HP:0000218	High palate
OMIM:608930	MUSK	4593	HP:0000508	Ptosis
OMIM:608930	MUSK	4593	HP:0000006	Autosomal dominant inheritance
OMIM:608930	MUSK	4593	HP:0010628	Facial palsy
OMIM:608930	MUSK	4593	HP:0003324	Generalized muscle weakness
OMIM:608930	MUSK	4593	HP:0001270	Motor delay
OMIM:608930	MUSK	4593	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608930	MUSK	4593	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608930	CHRNB1	1140	HP:0003391	Gowers sign
OMIM:608930	CHRNB1	1140	HP:0000347	Micrognathia
OMIM:608930	CHRNB1	1140	HP:0002650	Scoliosis
OMIM:608930	CHRNB1	1140	HP:0000007	Autosomal recessive inheritance
OMIM:608930	CHRNB1	1140	HP:0003828	Variable expressivity
OMIM:608930	CHRNB1	1140	HP:0001283	Bulbar palsy
OMIM:608930	CHRNB1	1140	HP:0003593	Infantile onset
OMIM:608930	CHRNB1	1140	HP:0002015	Dysphagia
OMIM:608930	CHRNB1	1140	HP:0001252	Muscular hypotonia
OMIM:608930	CHRNB1	1140	HP:0000400	Macrotia
OMIM:608930	CHRNB1	1140	HP:0001260	Dysarthria
OMIM:608930	CHRNB1	1140	HP:0002033	Poor suck
OMIM:608930	CHRNB1	1140	HP:0000467	Neck muscle weakness
OMIM:608930	CHRNB1	1140	HP:0000597	Ophthalmoparesis
OMIM:608930	CHRNB1	1140	HP:0000218	High palate
OMIM:608930	CHRNB1	1140	HP:0000508	Ptosis
OMIM:608930	CHRNB1	1140	HP:0000006	Autosomal dominant inheritance
OMIM:608930	CHRNB1	1140	HP:0010628	Facial palsy
OMIM:608930	CHRNB1	1140	HP:0003324	Generalized muscle weakness
OMIM:608930	CHRNB1	1140	HP:0001270	Motor delay
OMIM:608930	CHRNB1	1140	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608930	CHRNB1	1140	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608930	DOK7	285489	HP:0003391	Gowers sign
OMIM:608930	DOK7	285489	HP:0000347	Micrognathia
OMIM:608930	DOK7	285489	HP:0002650	Scoliosis
OMIM:608930	DOK7	285489	HP:0000007	Autosomal recessive inheritance
OMIM:608930	DOK7	285489	HP:0003828	Variable expressivity
OMIM:608930	DOK7	285489	HP:0001283	Bulbar palsy
OMIM:608930	DOK7	285489	HP:0003593	Infantile onset
OMIM:608930	DOK7	285489	HP:0002015	Dysphagia
OMIM:608930	DOK7	285489	HP:0001252	Muscular hypotonia
OMIM:608930	DOK7	285489	HP:0000400	Macrotia
OMIM:608930	DOK7	285489	HP:0001260	Dysarthria
OMIM:608930	DOK7	285489	HP:0002033	Poor suck
OMIM:608930	DOK7	285489	HP:0000467	Neck muscle weakness
OMIM:608930	DOK7	285489	HP:0000597	Ophthalmoparesis
OMIM:608930	DOK7	285489	HP:0000218	High palate
OMIM:608930	DOK7	285489	HP:0000508	Ptosis
OMIM:608930	DOK7	285489	HP:0000006	Autosomal dominant inheritance
OMIM:608930	DOK7	285489	HP:0010628	Facial palsy
OMIM:608930	DOK7	285489	HP:0003324	Generalized muscle weakness
OMIM:608930	DOK7	285489	HP:0001270	Motor delay
OMIM:608930	DOK7	285489	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608930	DOK7	285489	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608930	LRP4	4038	HP:0003391	Gowers sign
OMIM:608930	LRP4	4038	HP:0000347	Micrognathia
OMIM:608930	LRP4	4038	HP:0002650	Scoliosis
OMIM:608930	LRP4	4038	HP:0000007	Autosomal recessive inheritance
OMIM:608930	LRP4	4038	HP:0003828	Variable expressivity
OMIM:608930	LRP4	4038	HP:0001283	Bulbar palsy
OMIM:608930	LRP4	4038	HP:0003593	Infantile onset
OMIM:608930	LRP4	4038	HP:0002015	Dysphagia
OMIM:608930	LRP4	4038	HP:0001252	Muscular hypotonia
OMIM:608930	LRP4	4038	HP:0000400	Macrotia
OMIM:608930	LRP4	4038	HP:0001260	Dysarthria
OMIM:608930	LRP4	4038	HP:0002033	Poor suck
OMIM:608930	LRP4	4038	HP:0000467	Neck muscle weakness
OMIM:608930	LRP4	4038	HP:0000597	Ophthalmoparesis
OMIM:608930	LRP4	4038	HP:0000218	High palate
OMIM:608930	LRP4	4038	HP:0000508	Ptosis
OMIM:608930	LRP4	4038	HP:0000006	Autosomal dominant inheritance
OMIM:608930	LRP4	4038	HP:0010628	Facial palsy
OMIM:608930	LRP4	4038	HP:0003324	Generalized muscle weakness
OMIM:608930	LRP4	4038	HP:0001270	Motor delay
OMIM:608930	LRP4	4038	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608930	LRP4	4038	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608930	CHRND	1144	HP:0003391	Gowers sign
OMIM:608930	CHRND	1144	HP:0000347	Micrognathia
OMIM:608930	CHRND	1144	HP:0002650	Scoliosis
OMIM:608930	CHRND	1144	HP:0000007	Autosomal recessive inheritance
OMIM:608930	CHRND	1144	HP:0003828	Variable expressivity
OMIM:608930	CHRND	1144	HP:0001283	Bulbar palsy
OMIM:608930	CHRND	1144	HP:0003593	Infantile onset
OMIM:608930	CHRND	1144	HP:0002015	Dysphagia
OMIM:608930	CHRND	1144	HP:0001252	Muscular hypotonia
OMIM:608930	CHRND	1144	HP:0000400	Macrotia
OMIM:608930	CHRND	1144	HP:0001260	Dysarthria
OMIM:608930	CHRND	1144	HP:0002033	Poor suck
OMIM:608930	CHRND	1144	HP:0000467	Neck muscle weakness
OMIM:608930	CHRND	1144	HP:0000597	Ophthalmoparesis
OMIM:608930	CHRND	1144	HP:0000218	High palate
OMIM:608930	CHRND	1144	HP:0000508	Ptosis
OMIM:608930	CHRND	1144	HP:0000006	Autosomal dominant inheritance
OMIM:608930	CHRND	1144	HP:0010628	Facial palsy
OMIM:608930	CHRND	1144	HP:0003324	Generalized muscle weakness
OMIM:608930	CHRND	1144	HP:0001270	Motor delay
OMIM:608930	CHRND	1144	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608930	CHRND	1144	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608930	RAPSN	5913	HP:0003391	Gowers sign
OMIM:608930	RAPSN	5913	HP:0000347	Micrognathia
OMIM:608930	RAPSN	5913	HP:0002650	Scoliosis
OMIM:608930	RAPSN	5913	HP:0000007	Autosomal recessive inheritance
OMIM:608930	RAPSN	5913	HP:0003828	Variable expressivity
OMIM:608930	RAPSN	5913	HP:0001283	Bulbar palsy
OMIM:608930	RAPSN	5913	HP:0003593	Infantile onset
OMIM:608930	RAPSN	5913	HP:0002015	Dysphagia
OMIM:608930	RAPSN	5913	HP:0001252	Muscular hypotonia
OMIM:608930	RAPSN	5913	HP:0000400	Macrotia
OMIM:608930	RAPSN	5913	HP:0001260	Dysarthria
OMIM:608930	RAPSN	5913	HP:0002033	Poor suck
OMIM:608930	RAPSN	5913	HP:0000467	Neck muscle weakness
OMIM:608930	RAPSN	5913	HP:0000597	Ophthalmoparesis
OMIM:608930	RAPSN	5913	HP:0000218	High palate
OMIM:608930	RAPSN	5913	HP:0000508	Ptosis
OMIM:608930	RAPSN	5913	HP:0000006	Autosomal dominant inheritance
OMIM:608930	RAPSN	5913	HP:0010628	Facial palsy
OMIM:608930	RAPSN	5913	HP:0003324	Generalized muscle weakness
OMIM:608930	RAPSN	5913	HP:0001270	Motor delay
OMIM:608930	RAPSN	5913	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608930	RAPSN	5913	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608930	SCN4A	6329	HP:0003391	Gowers sign
OMIM:608930	SCN4A	6329	HP:0000347	Micrognathia
OMIM:608930	SCN4A	6329	HP:0002650	Scoliosis
OMIM:608930	SCN4A	6329	HP:0000007	Autosomal recessive inheritance
OMIM:608930	SCN4A	6329	HP:0003828	Variable expressivity
OMIM:608930	SCN4A	6329	HP:0001283	Bulbar palsy
OMIM:608930	SCN4A	6329	HP:0003593	Infantile onset
OMIM:608930	SCN4A	6329	HP:0002015	Dysphagia
OMIM:608930	SCN4A	6329	HP:0001252	Muscular hypotonia
OMIM:608930	SCN4A	6329	HP:0000400	Macrotia
OMIM:608930	SCN4A	6329	HP:0001260	Dysarthria
OMIM:608930	SCN4A	6329	HP:0002033	Poor suck
OMIM:608930	SCN4A	6329	HP:0000467	Neck muscle weakness
OMIM:608930	SCN4A	6329	HP:0000597	Ophthalmoparesis
OMIM:608930	SCN4A	6329	HP:0000218	High palate
OMIM:608930	SCN4A	6329	HP:0000508	Ptosis
OMIM:608930	SCN4A	6329	HP:0000006	Autosomal dominant inheritance
OMIM:608930	SCN4A	6329	HP:0010628	Facial palsy
OMIM:608930	SCN4A	6329	HP:0003324	Generalized muscle weakness
OMIM:608930	SCN4A	6329	HP:0001270	Motor delay
OMIM:608930	SCN4A	6329	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608930	SCN4A	6329	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608930	CHRNE	1145	HP:0003391	Gowers sign
OMIM:608930	CHRNE	1145	HP:0000347	Micrognathia
OMIM:608930	CHRNE	1145	HP:0002650	Scoliosis
OMIM:608930	CHRNE	1145	HP:0000007	Autosomal recessive inheritance
OMIM:608930	CHRNE	1145	HP:0003828	Variable expressivity
OMIM:608930	CHRNE	1145	HP:0001283	Bulbar palsy
OMIM:608930	CHRNE	1145	HP:0003593	Infantile onset
OMIM:608930	CHRNE	1145	HP:0002015	Dysphagia
OMIM:608930	CHRNE	1145	HP:0001252	Muscular hypotonia
OMIM:608930	CHRNE	1145	HP:0000400	Macrotia
OMIM:608930	CHRNE	1145	HP:0001260	Dysarthria
OMIM:608930	CHRNE	1145	HP:0002033	Poor suck
OMIM:608930	CHRNE	1145	HP:0000467	Neck muscle weakness
OMIM:608930	CHRNE	1145	HP:0000597	Ophthalmoparesis
OMIM:608930	CHRNE	1145	HP:0000218	High palate
OMIM:608930	CHRNE	1145	HP:0000508	Ptosis
OMIM:608930	CHRNE	1145	HP:0000006	Autosomal dominant inheritance
OMIM:608930	CHRNE	1145	HP:0010628	Facial palsy
OMIM:608930	CHRNE	1145	HP:0003324	Generalized muscle weakness
OMIM:608930	CHRNE	1145	HP:0001270	Motor delay
OMIM:608930	CHRNE	1145	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608930	CHRNE	1145	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608930	AGRN	375790	HP:0003391	Gowers sign
OMIM:608930	AGRN	375790	HP:0000347	Micrognathia
OMIM:608930	AGRN	375790	HP:0002650	Scoliosis
OMIM:608930	AGRN	375790	HP:0000007	Autosomal recessive inheritance
OMIM:608930	AGRN	375790	HP:0003828	Variable expressivity
OMIM:608930	AGRN	375790	HP:0001283	Bulbar palsy
OMIM:608930	AGRN	375790	HP:0003593	Infantile onset
OMIM:608930	AGRN	375790	HP:0002015	Dysphagia
OMIM:608930	AGRN	375790	HP:0001252	Muscular hypotonia
OMIM:608930	AGRN	375790	HP:0000400	Macrotia
OMIM:608930	AGRN	375790	HP:0001260	Dysarthria
OMIM:608930	AGRN	375790	HP:0002033	Poor suck
OMIM:608930	AGRN	375790	HP:0000467	Neck muscle weakness
OMIM:608930	AGRN	375790	HP:0000597	Ophthalmoparesis
OMIM:608930	AGRN	375790	HP:0000218	High palate
OMIM:608930	AGRN	375790	HP:0000508	Ptosis
OMIM:608930	AGRN	375790	HP:0000006	Autosomal dominant inheritance
OMIM:608930	AGRN	375790	HP:0010628	Facial palsy
OMIM:608930	AGRN	375790	HP:0003324	Generalized muscle weakness
OMIM:608930	AGRN	375790	HP:0001270	Motor delay
OMIM:608930	AGRN	375790	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608930	AGRN	375790	HP:0002804	Arthrogryposis multiplex congenita
OMIM:608930	CHRNA1	1134	HP:0003391	Gowers sign
OMIM:608930	CHRNA1	1134	HP:0000347	Micrognathia
OMIM:608930	CHRNA1	1134	HP:0002650	Scoliosis
OMIM:608930	CHRNA1	1134	HP:0000007	Autosomal recessive inheritance
OMIM:608930	CHRNA1	1134	HP:0003828	Variable expressivity
OMIM:608930	CHRNA1	1134	HP:0001283	Bulbar palsy
OMIM:608930	CHRNA1	1134	HP:0003593	Infantile onset
OMIM:608930	CHRNA1	1134	HP:0002015	Dysphagia
OMIM:608930	CHRNA1	1134	HP:0001252	Muscular hypotonia
OMIM:608930	CHRNA1	1134	HP:0000400	Macrotia
OMIM:608930	CHRNA1	1134	HP:0001260	Dysarthria
OMIM:608930	CHRNA1	1134	HP:0002033	Poor suck
OMIM:608930	CHRNA1	1134	HP:0000467	Neck muscle weakness
OMIM:608930	CHRNA1	1134	HP:0000597	Ophthalmoparesis
OMIM:608930	CHRNA1	1134	HP:0000218	High palate
OMIM:608930	CHRNA1	1134	HP:0000508	Ptosis
OMIM:608930	CHRNA1	1134	HP:0000006	Autosomal dominant inheritance
OMIM:608930	CHRNA1	1134	HP:0010628	Facial palsy
OMIM:608930	CHRNA1	1134	HP:0003324	Generalized muscle weakness
OMIM:608930	CHRNA1	1134	HP:0001270	Motor delay
OMIM:608930	CHRNA1	1134	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:608930	CHRNA1	1134	HP:0002804	Arthrogryposis multiplex congenita
OMIM:613074	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:613074	DIAPH1	1729	HP:0001730	Progressive hearing impairment
OMIM:613074	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:613074	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:613074	CEACAM16	388551	HP:0001730	Progressive hearing impairment
OMIM:613074	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:613074	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:613074	SLC17A8	246213	HP:0001730	Progressive hearing impairment
OMIM:613074	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:613074	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:613074	TJP2	9414	HP:0001730	Progressive hearing impairment
OMIM:613074	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:613074	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:613074	ACTG1	71	HP:0001730	Progressive hearing impairment
OMIM:613074	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:613074	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:613074	MIR96	407053	HP:0001730	Progressive hearing impairment
OMIM:613074	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:613074	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:613074	CCDC50	152137	HP:0001730	Progressive hearing impairment
OMIM:613074	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:613074	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:613074	GJB2	2706	HP:0001730	Progressive hearing impairment
OMIM:613074	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:613074	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:613074	POU4F3	5459	HP:0001730	Progressive hearing impairment
OMIM:613074	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:613074	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:613074	GJB3	2707	HP:0001730	Progressive hearing impairment
OMIM:613074	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:613074	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:613074	MYH9	4627	HP:0001730	Progressive hearing impairment
OMIM:613074	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:613074	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:613074	CRYM	1428	HP:0001730	Progressive hearing impairment
OMIM:613074	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:613074	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:613074	COL11A2	1302	HP:0001730	Progressive hearing impairment
OMIM:613074	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:613074	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:613074	EYA4	2070	HP:0001730	Progressive hearing impairment
OMIM:613074	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:613074	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:613074	DFNA5	1687	HP:0001730	Progressive hearing impairment
OMIM:613074	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:613074	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:613074	DIAPH3	81624	HP:0001730	Progressive hearing impairment
OMIM:613074	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:613074	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:613074	TMC1	117531	HP:0001730	Progressive hearing impairment
OMIM:613074	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:613074	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:613074	COCH	1690	HP:0001730	Progressive hearing impairment
OMIM:613074	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:613074	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:613074	OSBPL2	9885	HP:0001730	Progressive hearing impairment
OMIM:613074	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:613074	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:613074	SIX1	6495	HP:0001730	Progressive hearing impairment
OMIM:613074	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:613074	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:613074	TECTA	7007	HP:0001730	Progressive hearing impairment
OMIM:613074	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:613074	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:613074	MYO1A	4640	HP:0001730	Progressive hearing impairment
OMIM:613074	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:613074	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:613074	MYO1C	4641	HP:0001730	Progressive hearing impairment
OMIM:613074	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:613074	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:613074	MYO6	4646	HP:0001730	Progressive hearing impairment
OMIM:613074	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:613074	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:613074	MYO7A	4647	HP:0001730	Progressive hearing impairment
OMIM:613074	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:613074	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:613074	GRHL2	79977	HP:0001730	Progressive hearing impairment
OMIM:613074	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:613074	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:613074	DIABLO	56616	HP:0001730	Progressive hearing impairment
OMIM:613074	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:613074	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:613074	MYH14	79784	HP:0001730	Progressive hearing impairment
OMIM:613074	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:613074	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:613074	P2RX2	22953	HP:0001730	Progressive hearing impairment
OMIM:613074	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:613074	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:613074	WFS1	7466	HP:0001730	Progressive hearing impairment
OMIM:613074	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:613074	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:613074	TNC	3371	HP:0001730	Progressive hearing impairment
OMIM:613074	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:613074	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:613074	KCNQ4	9132	HP:0001730	Progressive hearing impairment
OMIM:613074	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:613074	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:613074	HOMER2	9455	HP:0001730	Progressive hearing impairment
OMIM:613074	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:613074	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:613074	GJB6	10804	HP:0001730	Progressive hearing impairment
OMIM:613074	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:613074	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:613074	TBC1D24	57465	HP:0001730	Progressive hearing impairment
OMIM:613074	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:615558	APOB	338	HP:0000510	Rod-cone dystrophy
OMIM:615558	APOB	338	HP:0001251	Ataxia
OMIM:615558	APOB	338	HP:0003563	Hypobetalipoproteinemia
OMIM:615558	APOB	338	HP:0000007	Autosomal recessive inheritance
OMIM:615558	APOB	338	HP:0000546	Retinal degeneration
OMIM:615558	APOB	338	HP:0001315	Reduced tendon reflexes
OMIM:616198	GTPBP3	84705	HP:0001638	Cardiomyopathy
OMIM:616198	GTPBP3	84705	HP:0002151	Increased serum lactate
OMIM:616198	GTPBP3	84705	HP:0001250	Seizures
OMIM:616198	GTPBP3	84705	HP:0001263	Global developmental delay
OMIM:616198	GTPBP3	84705	HP:0001252	Muscular hypotonia
OMIM:616198	GTPBP3	84705	HP:0001635	Congestive heart failure
OMIM:616198	GTPBP3	84705	HP:0011968	Feeding difficulties
OMIM:616198	GTPBP3	84705	HP:0000505	Visual impairment
OMIM:616198	GTPBP3	84705	HP:0003128	Lactic acidosis
OMIM:616198	GTPBP3	84705	HP:0001511	Intrauterine growth retardation
OMIM:616198	GTPBP3	84705	HP:0011675	Arrhythmia
OMIM:120330	PAX2	5076	HP:0001249	Intellectual disability
OMIM:120330	PAX2	5076	HP:0002171	Gliosis
OMIM:120330	PAX2	5076	HP:0000003	Multicystic kidney dysplasia
OMIM:120330	PAX2	5076	HP:0000480	Retinal coloboma
OMIM:120330	PAX2	5076	HP:0000533	Chorioretinal atrophy
OMIM:120330	PAX2	5076	HP:0000969	Edema
OMIM:120330	PAX2	5076	HP:0000648	Optic atrophy
OMIM:120330	PAX2	5076	HP:0003593	Infantile onset
OMIM:120330	PAX2	5076	HP:0000006	Autosomal dominant inheritance
OMIM:120330	PAX2	5076	HP:0003774	Stage 5 chronic kidney disease
OMIM:120330	PAX2	5076	HP:0007099	Arnold-Chiari type I malformation
OMIM:120330	PAX2	5076	HP:0003812	Phenotypic variability
OMIM:120330	PAX2	5076	HP:0000089	Renal hypoplasia
OMIM:120330	PAX2	5076	HP:0000568	Microphthalmia
OMIM:120330	PAX2	5076	HP:0000977	Soft skin
OMIM:120330	PAX2	5076	HP:0000505	Visual impairment
OMIM:120330	PAX2	5076	HP:0000588	Optic nerve coloboma
OMIM:120330	PAX2	5076	HP:0000076	Vesicoureteral reflux
OMIM:120330	PAX2	5076	HP:0000518	Cataract
OMIM:120330	PAX2	5076	HP:0000567	Chorioretinal coloboma
OMIM:120330	PAX2	5076	HP:0001250	Seizures
OMIM:120330	PAX2	5076	HP:0000407	Sensorineural hearing impairment
OMIM:120330	PAX2	5076	HP:0000541	Retinal detachment
OMIM:120330	PAX2	5076	HP:0000486	Strabismus
OMIM:120330	PAX2	5076	HP:0004712	Renal malrotation
OMIM:120330	PAX2	5076	HP:0000639	Nystagmus
OMIM:120330	PAX2	5076	HP:0000085	Horseshoe kidney
OMIM:120330	PAX2	5076	HP:0000093	Proteinuria
OMIM:120330	PAX2	5076	HP:0000608	Macular degeneration
OMIM:120330	PAX2	5076	HP:0000974	Hyperextensible skin
OMIM:120330	PAX2	5076	HP:0001382	Joint hypermobility
OMIM:120330	PAX2	5076	HP:0001388	Joint laxity
OMIM:120330	PAX2	5076	HP:0000787	Nephrolithiasis
OMIM:120330	PAX2	5076	HP:0000545	Myopia
OMIM:242860	ZBTB24	9841	HP:0010808	Protruding tongue
OMIM:242860	ZBTB24	9841	HP:0001508	Failure to thrive
OMIM:242860	ZBTB24	9841	HP:0000286	Epicanthus
OMIM:242860	ZBTB24	9841	HP:0004322	Short stature
OMIM:242860	ZBTB24	9841	HP:0001249	Intellectual disability
OMIM:242860	ZBTB24	9841	HP:0002014	Diarrhea
OMIM:242860	ZBTB24	9841	HP:0002110	Bronchiectasis
OMIM:242860	ZBTB24	9841	HP:0012368	Flat face
OMIM:242860	ZBTB24	9841	HP:0002721	Immunodeficiency
OMIM:242860	ZBTB24	9841	HP:0005403	T lymphocytopenia
OMIM:242860	ZBTB24	9841	HP:0005280	Depressed nasal bridge
OMIM:242860	ZBTB24	9841	HP:0000463	Anteverted nares
OMIM:242860	ZBTB24	9841	HP:0000272	Malar flattening
OMIM:242860	ZBTB24	9841	HP:0002024	Malabsorption
OMIM:242860	ZBTB24	9841	HP:0000158	Macroglossia
OMIM:242860	ZBTB24	9841	HP:0000246	Sinusitis
OMIM:242860	ZBTB24	9841	HP:0000316	Hypertelorism
OMIM:242860	ZBTB24	9841	HP:0004313	Decreased antibody level in blood
OMIM:242860	ZBTB24	9841	HP:0000369	Low-set ears
OMIM:242860	ZBTB24	9841	HP:0003196	Short nose
OMIM:242860	ZBTB24	9841	HP:0000007	Autosomal recessive inheritance
OMIM:242860	ZBTB24	9841	HP:0000347	Micrognathia
OMIM:242860	ZBTB24	9841	HP:0002090	Pneumonia
OMIM:242860	CDCA7	83879	HP:0010808	Protruding tongue
OMIM:242860	CDCA7	83879	HP:0001508	Failure to thrive
OMIM:242860	CDCA7	83879	HP:0000286	Epicanthus
OMIM:242860	CDCA7	83879	HP:0004322	Short stature
OMIM:242860	CDCA7	83879	HP:0001249	Intellectual disability
OMIM:242860	CDCA7	83879	HP:0002014	Diarrhea
OMIM:242860	CDCA7	83879	HP:0002110	Bronchiectasis
OMIM:242860	CDCA7	83879	HP:0012368	Flat face
OMIM:242860	CDCA7	83879	HP:0002721	Immunodeficiency
OMIM:242860	CDCA7	83879	HP:0005403	T lymphocytopenia
OMIM:242860	CDCA7	83879	HP:0005280	Depressed nasal bridge
OMIM:242860	CDCA7	83879	HP:0000463	Anteverted nares
OMIM:242860	CDCA7	83879	HP:0000272	Malar flattening
OMIM:242860	CDCA7	83879	HP:0002024	Malabsorption
OMIM:242860	CDCA7	83879	HP:0000158	Macroglossia
OMIM:242860	CDCA7	83879	HP:0000246	Sinusitis
OMIM:242860	CDCA7	83879	HP:0000316	Hypertelorism
OMIM:242860	CDCA7	83879	HP:0004313	Decreased antibody level in blood
OMIM:242860	CDCA7	83879	HP:0000369	Low-set ears
OMIM:242860	CDCA7	83879	HP:0003196	Short nose
OMIM:242860	CDCA7	83879	HP:0000007	Autosomal recessive inheritance
OMIM:242860	CDCA7	83879	HP:0000347	Micrognathia
OMIM:242860	CDCA7	83879	HP:0002090	Pneumonia
OMIM:242860	DNMT3B	1789	HP:0010808	Protruding tongue
OMIM:242860	DNMT3B	1789	HP:0001508	Failure to thrive
OMIM:242860	DNMT3B	1789	HP:0000286	Epicanthus
OMIM:242860	DNMT3B	1789	HP:0004322	Short stature
OMIM:242860	DNMT3B	1789	HP:0001249	Intellectual disability
OMIM:242860	DNMT3B	1789	HP:0002014	Diarrhea
OMIM:242860	DNMT3B	1789	HP:0002110	Bronchiectasis
OMIM:242860	DNMT3B	1789	HP:0012368	Flat face
OMIM:242860	DNMT3B	1789	HP:0002721	Immunodeficiency
OMIM:242860	DNMT3B	1789	HP:0005403	T lymphocytopenia
OMIM:242860	DNMT3B	1789	HP:0005280	Depressed nasal bridge
OMIM:242860	DNMT3B	1789	HP:0000463	Anteverted nares
OMIM:242860	DNMT3B	1789	HP:0000272	Malar flattening
OMIM:242860	DNMT3B	1789	HP:0002024	Malabsorption
OMIM:242860	DNMT3B	1789	HP:0000158	Macroglossia
OMIM:242860	DNMT3B	1789	HP:0000246	Sinusitis
OMIM:242860	DNMT3B	1789	HP:0000316	Hypertelorism
OMIM:242860	DNMT3B	1789	HP:0004313	Decreased antibody level in blood
OMIM:242860	DNMT3B	1789	HP:0000369	Low-set ears
OMIM:242860	DNMT3B	1789	HP:0003196	Short nose
OMIM:242860	DNMT3B	1789	HP:0000007	Autosomal recessive inheritance
OMIM:242860	DNMT3B	1789	HP:0000347	Micrognathia
OMIM:242860	DNMT3B	1789	HP:0002090	Pneumonia
OMIM:242860	HELLS	3070	HP:0010808	Protruding tongue
OMIM:242860	HELLS	3070	HP:0001508	Failure to thrive
OMIM:242860	HELLS	3070	HP:0000286	Epicanthus
OMIM:242860	HELLS	3070	HP:0004322	Short stature
OMIM:242860	HELLS	3070	HP:0001249	Intellectual disability
OMIM:242860	HELLS	3070	HP:0002014	Diarrhea
OMIM:242860	HELLS	3070	HP:0002110	Bronchiectasis
OMIM:242860	HELLS	3070	HP:0012368	Flat face
OMIM:242860	HELLS	3070	HP:0002721	Immunodeficiency
OMIM:242860	HELLS	3070	HP:0005403	T lymphocytopenia
OMIM:242860	HELLS	3070	HP:0005280	Depressed nasal bridge
OMIM:242860	HELLS	3070	HP:0000463	Anteverted nares
OMIM:242860	HELLS	3070	HP:0000272	Malar flattening
OMIM:242860	HELLS	3070	HP:0002024	Malabsorption
OMIM:242860	HELLS	3070	HP:0000158	Macroglossia
OMIM:242860	HELLS	3070	HP:0000246	Sinusitis
OMIM:242860	HELLS	3070	HP:0000316	Hypertelorism
OMIM:242860	HELLS	3070	HP:0004313	Decreased antibody level in blood
OMIM:242860	HELLS	3070	HP:0000369	Low-set ears
OMIM:242860	HELLS	3070	HP:0003196	Short nose
OMIM:242860	HELLS	3070	HP:0000007	Autosomal recessive inheritance
OMIM:242860	HELLS	3070	HP:0000347	Micrognathia
OMIM:242860	HELLS	3070	HP:0002090	Pneumonia
OMIM:615530	SYNJ1	8867	HP:0002063	Rigidity
OMIM:615530	SYNJ1	8867	HP:0002067	Bradykinesia
OMIM:615530	SYNJ1	8867	HP:0003676	Progressive
OMIM:615530	SYNJ1	8867	HP:0001300	Parkinsonism
OMIM:615530	SYNJ1	8867	HP:0001332	Dystonia
OMIM:615530	SYNJ1	8867	HP:0001337	Tremor
OMIM:615530	SYNJ1	8867	HP:0001260	Dysarthria
OMIM:615530	SYNJ1	8867	HP:0001268	Mental deterioration
OMIM:615530	SYNJ1	8867	HP:0002172	Postural instability
OMIM:615530	SYNJ1	8867	HP:0000007	Autosomal recessive inheritance
OMIM:615530	DNAJC6	9829	HP:0002063	Rigidity
OMIM:615530	DNAJC6	9829	HP:0002067	Bradykinesia
OMIM:615530	DNAJC6	9829	HP:0003676	Progressive
OMIM:615530	DNAJC6	9829	HP:0001300	Parkinsonism
OMIM:615530	DNAJC6	9829	HP:0001332	Dystonia
OMIM:615530	DNAJC6	9829	HP:0001337	Tremor
OMIM:615530	DNAJC6	9829	HP:0001260	Dysarthria
OMIM:615530	DNAJC6	9829	HP:0001268	Mental deterioration
OMIM:615530	DNAJC6	9829	HP:0002172	Postural instability
OMIM:615530	DNAJC6	9829	HP:0000007	Autosomal recessive inheritance
OMIM:613078	RAD50	10111	HP:0001251	Ataxia
OMIM:613078	RAD50	10111	HP:0000540	Hypermetropia
OMIM:613078	RAD50	10111	HP:0001257	Spasticity
OMIM:613078	RAD50	10111	HP:0000007	Autosomal recessive inheritance
OMIM:613078	RAD50	10111	HP:0001249	Intellectual disability
OMIM:613078	RAD50	10111	HP:0000252	Microcephaly
OMIM:613078	RAD50	10111	HP:0004322	Short stature
OMIM:609524	FLNC	2318	HP:0003701	Proximal muscle weakness
OMIM:609524	FLNC	2318	HP:0003677	Slow progression
OMIM:609524	FLNC	2318	HP:0003581	Adult onset
OMIM:609524	FLNC	2318	HP:0002093	Respiratory insufficiency
OMIM:609524	FLNC	2318	HP:0000006	Autosomal dominant inheritance
OMIM:609524	FLNC	2318	HP:0000759	Abnormal peripheral nervous system morphology
OMIM:609524	FLNC	2318	HP:0002515	Waddling gait
OMIM:609524	FLNC	2318	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614475	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:612422	TNNI3	7137	HP:0001638	Cardiomyopathy
OMIM:612422	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:612422	TNNT2	7139	HP:0001638	Cardiomyopathy
OMIM:612422	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:612422	MYPN	84665	HP:0001638	Cardiomyopathy
OMIM:612422	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:210500	GPC1	2817	HP:0002910	Elevated hepatic transaminases
OMIM:210500	GPC1	2817	HP:0003593	Infantile onset
OMIM:210500	GPC1	2817	HP:0001408	Bile duct proliferation
OMIM:210500	GPC1	2817	HP:0005242	Extrahepatic biliary duct atresia
OMIM:210500	GPC1	2817	HP:0003676	Progressive
OMIM:210500	GPC1	2817	HP:0001394	Cirrhosis
OMIM:210500	GPC1	2817	HP:0011985	Acholic stools
OMIM:210500	GPC1	2817	HP:0002240	Hepatomegaly
OMIM:210500	GPC1	2817	HP:0000952	Jaundice
OMIM:263300	MPL	4352	HP:0001873	Thrombocytopenia
OMIM:263300	MPL	4352	HP:0002027	Abdominal pain
OMIM:263300	MPL	4352	HP:0001974	Leukocytosis
OMIM:263300	MPL	4352	HP:0001744	Splenomegaly
OMIM:263300	MPL	4352	HP:0000360	Tinnitus
OMIM:263300	MPL	4352	HP:0002239	Gastrointestinal hemorrhage
OMIM:263300	MPL	4352	HP:0003745	Sporadic
OMIM:263300	MPL	4352	HP:0000006	Autosomal dominant inheritance
OMIM:263300	MPL	4352	HP:0002637	Cerebral ischemia
OMIM:263300	MPL	4352	HP:0001894	Thrombocytosis
OMIM:263300	MPL	4352	HP:0000421	Epistaxis
OMIM:263300	MPL	4352	HP:0002863	Myelodysplasia
OMIM:263300	MPL	4352	HP:0000989	Pruritus
OMIM:263300	MPL	4352	HP:0002321	Vertigo
OMIM:263300	MPL	4352	HP:0002240	Hepatomegaly
OMIM:263300	MPL	4352	HP:0001677	Coronary artery disease
OMIM:263300	MPL	4352	HP:0001428	Somatic mutation
OMIM:263300	MPL	4352	HP:0002488	Acute leukemia
OMIM:263300	MPL	4352	HP:0002829	Arthralgia
OMIM:263300	MPL	4352	HP:0000225	Gingival bleeding
OMIM:263300	MPL	4352	HP:0000978	Bruising susceptibility
OMIM:263300	MPL	4352	HP:0001824	Weight loss
OMIM:263300	MPL	4352	HP:0002076	Migraine
OMIM:263300	MPL	4352	HP:0001409	Portal hypertension
OMIM:263300	MPL	4352	HP:0001907	Thromboembolism
OMIM:263300	MPL	4352	HP:0004418	Thrombophlebitis
OMIM:263300	MPL	4352	HP:0004420	Arterial thrombosis
OMIM:263300	MPL	4352	HP:0002093	Respiratory insufficiency
OMIM:263300	JAK2	3717	HP:0001873	Thrombocytopenia
OMIM:263300	JAK2	3717	HP:0002027	Abdominal pain
OMIM:263300	JAK2	3717	HP:0001974	Leukocytosis
OMIM:263300	JAK2	3717	HP:0001744	Splenomegaly
OMIM:263300	JAK2	3717	HP:0000360	Tinnitus
OMIM:263300	JAK2	3717	HP:0002239	Gastrointestinal hemorrhage
OMIM:263300	JAK2	3717	HP:0003745	Sporadic
OMIM:263300	JAK2	3717	HP:0000006	Autosomal dominant inheritance
OMIM:263300	JAK2	3717	HP:0002637	Cerebral ischemia
OMIM:263300	JAK2	3717	HP:0001894	Thrombocytosis
OMIM:263300	JAK2	3717	HP:0000421	Epistaxis
OMIM:263300	JAK2	3717	HP:0002863	Myelodysplasia
OMIM:263300	JAK2	3717	HP:0000989	Pruritus
OMIM:263300	JAK2	3717	HP:0002321	Vertigo
OMIM:263300	JAK2	3717	HP:0002240	Hepatomegaly
OMIM:263300	JAK2	3717	HP:0001677	Coronary artery disease
OMIM:263300	JAK2	3717	HP:0001428	Somatic mutation
OMIM:263300	JAK2	3717	HP:0002488	Acute leukemia
OMIM:263300	JAK2	3717	HP:0002829	Arthralgia
OMIM:263300	JAK2	3717	HP:0000225	Gingival bleeding
OMIM:263300	JAK2	3717	HP:0000978	Bruising susceptibility
OMIM:263300	JAK2	3717	HP:0001824	Weight loss
OMIM:263300	JAK2	3717	HP:0002076	Migraine
OMIM:263300	JAK2	3717	HP:0001409	Portal hypertension
OMIM:263300	JAK2	3717	HP:0001907	Thromboembolism
OMIM:263300	JAK2	3717	HP:0004418	Thrombophlebitis
OMIM:263300	JAK2	3717	HP:0004420	Arterial thrombosis
OMIM:263300	JAK2	3717	HP:0002093	Respiratory insufficiency
OMIM:263300	TET2	54790	HP:0001873	Thrombocytopenia
OMIM:263300	TET2	54790	HP:0002027	Abdominal pain
OMIM:263300	TET2	54790	HP:0001974	Leukocytosis
OMIM:263300	TET2	54790	HP:0001744	Splenomegaly
OMIM:263300	TET2	54790	HP:0000360	Tinnitus
OMIM:263300	TET2	54790	HP:0002239	Gastrointestinal hemorrhage
OMIM:263300	TET2	54790	HP:0003745	Sporadic
OMIM:263300	TET2	54790	HP:0000006	Autosomal dominant inheritance
OMIM:263300	TET2	54790	HP:0002637	Cerebral ischemia
OMIM:263300	TET2	54790	HP:0001894	Thrombocytosis
OMIM:263300	TET2	54790	HP:0000421	Epistaxis
OMIM:263300	TET2	54790	HP:0002863	Myelodysplasia
OMIM:263300	TET2	54790	HP:0000989	Pruritus
OMIM:263300	TET2	54790	HP:0002321	Vertigo
OMIM:263300	TET2	54790	HP:0002240	Hepatomegaly
OMIM:263300	TET2	54790	HP:0001677	Coronary artery disease
OMIM:263300	TET2	54790	HP:0001428	Somatic mutation
OMIM:263300	TET2	54790	HP:0002488	Acute leukemia
OMIM:263300	TET2	54790	HP:0002829	Arthralgia
OMIM:263300	TET2	54790	HP:0000225	Gingival bleeding
OMIM:263300	TET2	54790	HP:0000978	Bruising susceptibility
OMIM:263300	TET2	54790	HP:0001824	Weight loss
OMIM:263300	TET2	54790	HP:0002076	Migraine
OMIM:263300	TET2	54790	HP:0001409	Portal hypertension
OMIM:263300	TET2	54790	HP:0001907	Thromboembolism
OMIM:263300	TET2	54790	HP:0004418	Thrombophlebitis
OMIM:263300	TET2	54790	HP:0004420	Arterial thrombosis
OMIM:263300	TET2	54790	HP:0002093	Respiratory insufficiency
OMIM:180550	PITX2	5308	HP:0000006	Autosomal dominant inheritance
OMIM:180550	PITX2	5308	HP:0000481	Abnormality of the cornea
OMIM:180550	PITX2	5308	HP:0000502	Abnormality of the conjunctiva
OMIM:614672	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:614672	TPM1	7168	HP:0005110	Atrial fibrillation
OMIM:614672	TPM1	7168	HP:0000007	Autosomal recessive inheritance
OMIM:614672	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:614672	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:614672	CRYAB	1410	HP:0005110	Atrial fibrillation
OMIM:614672	CRYAB	1410	HP:0000007	Autosomal recessive inheritance
OMIM:614672	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:614672	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:614672	GATAD1	57798	HP:0005110	Atrial fibrillation
OMIM:614672	GATAD1	57798	HP:0000007	Autosomal recessive inheritance
OMIM:614672	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:614672	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:614672	ACTC1	70	HP:0005110	Atrial fibrillation
OMIM:614672	ACTC1	70	HP:0000007	Autosomal recessive inheritance
OMIM:614672	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:614672	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:614672	RAF1	5894	HP:0005110	Atrial fibrillation
OMIM:614672	RAF1	5894	HP:0000007	Autosomal recessive inheritance
OMIM:614672	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:614672	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:614672	LAMA4	3910	HP:0005110	Atrial fibrillation
OMIM:614672	LAMA4	3910	HP:0000007	Autosomal recessive inheritance
OMIM:614672	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:614672	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:614672	TMPO	7112	HP:0005110	Atrial fibrillation
OMIM:614672	TMPO	7112	HP:0000007	Autosomal recessive inheritance
OMIM:614672	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:614672	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:614672	DES	1674	HP:0005110	Atrial fibrillation
OMIM:614672	DES	1674	HP:0000007	Autosomal recessive inheritance
OMIM:614672	DES	1674	HP:0001635	Congestive heart failure
OMIM:614672	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:614672	ABCC9	10060	HP:0005110	Atrial fibrillation
OMIM:614672	ABCC9	10060	HP:0000007	Autosomal recessive inheritance
OMIM:614672	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:614672	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:614672	MYH6	4624	HP:0005110	Atrial fibrillation
OMIM:614672	MYH6	4624	HP:0000007	Autosomal recessive inheritance
OMIM:614672	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:614672	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:614672	MYH7	4625	HP:0005110	Atrial fibrillation
OMIM:614672	MYH7	4625	HP:0000007	Autosomal recessive inheritance
OMIM:614672	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:614672	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:614672	LDB3	11155	HP:0005110	Atrial fibrillation
OMIM:614672	LDB3	11155	HP:0000007	Autosomal recessive inheritance
OMIM:614672	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:614672	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:614672	ACTN2	88	HP:0005110	Atrial fibrillation
OMIM:614672	ACTN2	88	HP:0000007	Autosomal recessive inheritance
OMIM:614672	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:614672	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:614672	TXNRD2	10587	HP:0005110	Atrial fibrillation
OMIM:614672	TXNRD2	10587	HP:0000007	Autosomal recessive inheritance
OMIM:614672	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:614672	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:614672	DMD	1756	HP:0005110	Atrial fibrillation
OMIM:614672	DMD	1756	HP:0000007	Autosomal recessive inheritance
OMIM:614672	DMD	1756	HP:0001635	Congestive heart failure
OMIM:614672	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:614672	TNNC1	7134	HP:0005110	Atrial fibrillation
OMIM:614672	TNNC1	7134	HP:0000007	Autosomal recessive inheritance
OMIM:614672	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:614672	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:614672	PSEN1	5663	HP:0005110	Atrial fibrillation
OMIM:614672	PSEN1	5663	HP:0000007	Autosomal recessive inheritance
OMIM:614672	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:614672	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:614672	PSEN2	5664	HP:0005110	Atrial fibrillation
OMIM:614672	PSEN2	5664	HP:0000007	Autosomal recessive inheritance
OMIM:614672	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:614672	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:614672	TNNI3	7137	HP:0005110	Atrial fibrillation
OMIM:614672	TNNI3	7137	HP:0000007	Autosomal recessive inheritance
OMIM:614672	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:614672	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:614672	FHL2	2274	HP:0005110	Atrial fibrillation
OMIM:614672	FHL2	2274	HP:0000007	Autosomal recessive inheritance
OMIM:614672	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:614672	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:614672	TNNT2	7139	HP:0005110	Atrial fibrillation
OMIM:614672	TNNT2	7139	HP:0000007	Autosomal recessive inheritance
OMIM:614672	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:614672	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:614672	DSG2	1829	HP:0005110	Atrial fibrillation
OMIM:614672	DSG2	1829	HP:0000007	Autosomal recessive inheritance
OMIM:614672	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:614672	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:614672	PLN	5350	HP:0005110	Atrial fibrillation
OMIM:614672	PLN	5350	HP:0000007	Autosomal recessive inheritance
OMIM:614672	PLN	5350	HP:0001635	Congestive heart failure
OMIM:614672	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:614672	PRDM16	63976	HP:0005110	Atrial fibrillation
OMIM:614672	PRDM16	63976	HP:0000007	Autosomal recessive inheritance
OMIM:614672	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:614672	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:614672	TTN	7273	HP:0005110	Atrial fibrillation
OMIM:614672	TTN	7273	HP:0000007	Autosomal recessive inheritance
OMIM:614672	TTN	7273	HP:0001635	Congestive heart failure
OMIM:614672	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:614672	NEXN	91624	HP:0005110	Atrial fibrillation
OMIM:614672	NEXN	91624	HP:0000007	Autosomal recessive inheritance
OMIM:614672	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:614672	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:614672	FKTN	2218	HP:0005110	Atrial fibrillation
OMIM:614672	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:614672	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:614672	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:614672	SGCD	6444	HP:0005110	Atrial fibrillation
OMIM:614672	SGCD	6444	HP:0000007	Autosomal recessive inheritance
OMIM:614672	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:614672	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:614672	TCAP	8557	HP:0005110	Atrial fibrillation
OMIM:614672	TCAP	8557	HP:0000007	Autosomal recessive inheritance
OMIM:614672	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:614672	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:614672	CSRP3	8048	HP:0005110	Atrial fibrillation
OMIM:614672	CSRP3	8048	HP:0000007	Autosomal recessive inheritance
OMIM:614672	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:614672	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:614672	RBM20	282996	HP:0005110	Atrial fibrillation
OMIM:614672	RBM20	282996	HP:0000007	Autosomal recessive inheritance
OMIM:614672	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:614672	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:614672	SDHA	6389	HP:0005110	Atrial fibrillation
OMIM:614672	SDHA	6389	HP:0000007	Autosomal recessive inheritance
OMIM:614672	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:614672	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:614672	TAZ	6901	HP:0005110	Atrial fibrillation
OMIM:614672	TAZ	6901	HP:0000007	Autosomal recessive inheritance
OMIM:614672	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:614672	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:614672	VCL	7414	HP:0005110	Atrial fibrillation
OMIM:614672	VCL	7414	HP:0000007	Autosomal recessive inheritance
OMIM:614672	VCL	7414	HP:0001635	Congestive heart failure
OMIM:614672	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:614672	MYPN	84665	HP:0005110	Atrial fibrillation
OMIM:614672	MYPN	84665	HP:0000007	Autosomal recessive inheritance
OMIM:614672	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:614672	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:614672	SCN5A	6331	HP:0005110	Atrial fibrillation
OMIM:614672	SCN5A	6331	HP:0000007	Autosomal recessive inheritance
OMIM:614672	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:614672	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:614672	BAG3	9531	HP:0005110	Atrial fibrillation
OMIM:614672	BAG3	9531	HP:0000007	Autosomal recessive inheritance
OMIM:614672	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:614672	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:614672	DOLK	22845	HP:0005110	Atrial fibrillation
OMIM:614672	DOLK	22845	HP:0000007	Autosomal recessive inheritance
OMIM:614672	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:614672	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:614672	MYBPC3	4607	HP:0005110	Atrial fibrillation
OMIM:614672	MYBPC3	4607	HP:0000007	Autosomal recessive inheritance
OMIM:614672	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:614897	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:614897	PROK2	60675	HP:0000027	Azoospermia
OMIM:614897	PROK2	60675	HP:0008734	Decreased testicular size
OMIM:614897	PROK2	60675	HP:0000054	Micropenis
OMIM:614897	PROK2	60675	HP:0000458	Anosmia
OMIM:614897	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:614897	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:614897	PROK2	60675	HP:0003812	Phenotypic variability
OMIM:614897	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:614897	PROKR2	128674	HP:0000027	Azoospermia
OMIM:614897	PROKR2	128674	HP:0008734	Decreased testicular size
OMIM:614897	PROKR2	128674	HP:0000054	Micropenis
OMIM:614897	PROKR2	128674	HP:0000458	Anosmia
OMIM:614897	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:614897	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:614897	PROKR2	128674	HP:0003812	Phenotypic variability
OMIM:614897	SEMA3A	10371	HP:0000006	Autosomal dominant inheritance
OMIM:614897	SEMA3A	10371	HP:0000027	Azoospermia
OMIM:614897	SEMA3A	10371	HP:0008734	Decreased testicular size
OMIM:614897	SEMA3A	10371	HP:0000054	Micropenis
OMIM:614897	SEMA3A	10371	HP:0000458	Anosmia
OMIM:614897	SEMA3A	10371	HP:0000786	Primary amenorrhea
OMIM:614897	SEMA3A	10371	HP:0000028	Cryptorchidism
OMIM:614897	SEMA3A	10371	HP:0003812	Phenotypic variability
OMIM:614897	IL17RD	54756	HP:0000006	Autosomal dominant inheritance
OMIM:614897	IL17RD	54756	HP:0000027	Azoospermia
OMIM:614897	IL17RD	54756	HP:0008734	Decreased testicular size
OMIM:614897	IL17RD	54756	HP:0000054	Micropenis
OMIM:614897	IL17RD	54756	HP:0000458	Anosmia
OMIM:614897	IL17RD	54756	HP:0000786	Primary amenorrhea
OMIM:614897	IL17RD	54756	HP:0000028	Cryptorchidism
OMIM:614897	IL17RD	54756	HP:0003812	Phenotypic variability
OMIM:614897	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:614897	WDR11	55717	HP:0000027	Azoospermia
OMIM:614897	WDR11	55717	HP:0008734	Decreased testicular size
OMIM:614897	WDR11	55717	HP:0000054	Micropenis
OMIM:614897	WDR11	55717	HP:0000458	Anosmia
OMIM:614897	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:614897	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:614897	WDR11	55717	HP:0003812	Phenotypic variability
OMIM:614897	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:614897	SOX10	6663	HP:0000027	Azoospermia
OMIM:614897	SOX10	6663	HP:0008734	Decreased testicular size
OMIM:614897	SOX10	6663	HP:0000054	Micropenis
OMIM:614897	SOX10	6663	HP:0000458	Anosmia
OMIM:614897	SOX10	6663	HP:0000786	Primary amenorrhea
OMIM:614897	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:614897	SOX10	6663	HP:0003812	Phenotypic variability
OMIM:614897	FEZF1	389549	HP:0000006	Autosomal dominant inheritance
OMIM:614897	FEZF1	389549	HP:0000027	Azoospermia
OMIM:614897	FEZF1	389549	HP:0008734	Decreased testicular size
OMIM:614897	FEZF1	389549	HP:0000054	Micropenis
OMIM:614897	FEZF1	389549	HP:0000458	Anosmia
OMIM:614897	FEZF1	389549	HP:0000786	Primary amenorrhea
OMIM:614897	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:614897	FEZF1	389549	HP:0003812	Phenotypic variability
OMIM:614897	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:614897	FGF8	2253	HP:0000027	Azoospermia
OMIM:614897	FGF8	2253	HP:0008734	Decreased testicular size
OMIM:614897	FGF8	2253	HP:0000054	Micropenis
OMIM:614897	FGF8	2253	HP:0000458	Anosmia
OMIM:614897	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:614897	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:614897	FGF8	2253	HP:0003812	Phenotypic variability
OMIM:614897	ANOS1	3730	HP:0000006	Autosomal dominant inheritance
OMIM:614897	ANOS1	3730	HP:0000027	Azoospermia
OMIM:614897	ANOS1	3730	HP:0008734	Decreased testicular size
OMIM:614897	ANOS1	3730	HP:0000054	Micropenis
OMIM:614897	ANOS1	3730	HP:0000458	Anosmia
OMIM:614897	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:614897	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:614897	ANOS1	3730	HP:0003812	Phenotypic variability
OMIM:614897	HS6ST1	9394	HP:0000006	Autosomal dominant inheritance
OMIM:614897	HS6ST1	9394	HP:0000027	Azoospermia
OMIM:614897	HS6ST1	9394	HP:0008734	Decreased testicular size
OMIM:614897	HS6ST1	9394	HP:0000054	Micropenis
OMIM:614897	HS6ST1	9394	HP:0000458	Anosmia
OMIM:614897	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:614897	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:614897	HS6ST1	9394	HP:0003812	Phenotypic variability
OMIM:614897	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:614897	CHD7	55636	HP:0000027	Azoospermia
OMIM:614897	CHD7	55636	HP:0008734	Decreased testicular size
OMIM:614897	CHD7	55636	HP:0000054	Micropenis
OMIM:614897	CHD7	55636	HP:0000458	Anosmia
OMIM:614897	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:614897	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:614897	CHD7	55636	HP:0003812	Phenotypic variability
OMIM:614897	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:614897	FGFR1	2260	HP:0000027	Azoospermia
OMIM:614897	FGFR1	2260	HP:0008734	Decreased testicular size
OMIM:614897	FGFR1	2260	HP:0000054	Micropenis
OMIM:614897	FGFR1	2260	HP:0000458	Anosmia
OMIM:614897	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:614897	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:614897	FGFR1	2260	HP:0003812	Phenotypic variability
OMIM:614897	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:614897	HESX1	8820	HP:0000027	Azoospermia
OMIM:614897	HESX1	8820	HP:0008734	Decreased testicular size
OMIM:614897	HESX1	8820	HP:0000054	Micropenis
OMIM:614897	HESX1	8820	HP:0000458	Anosmia
OMIM:614897	HESX1	8820	HP:0000786	Primary amenorrhea
OMIM:614897	HESX1	8820	HP:0000028	Cryptorchidism
OMIM:614897	HESX1	8820	HP:0003812	Phenotypic variability
OMIM:614897	TACR3	6870	HP:0000006	Autosomal dominant inheritance
OMIM:614897	TACR3	6870	HP:0000027	Azoospermia
OMIM:614897	TACR3	6870	HP:0008734	Decreased testicular size
OMIM:614897	TACR3	6870	HP:0000054	Micropenis
OMIM:614897	TACR3	6870	HP:0000458	Anosmia
OMIM:614897	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:614897	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:614897	TACR3	6870	HP:0003812	Phenotypic variability
OMIM:614897	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:614897	FGF17	8822	HP:0000027	Azoospermia
OMIM:614897	FGF17	8822	HP:0008734	Decreased testicular size
OMIM:614897	FGF17	8822	HP:0000054	Micropenis
OMIM:614897	FGF17	8822	HP:0000458	Anosmia
OMIM:614897	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:614897	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:614897	FGF17	8822	HP:0003812	Phenotypic variability
OMIM:614897	FLRT3	23767	HP:0000006	Autosomal dominant inheritance
OMIM:614897	FLRT3	23767	HP:0000027	Azoospermia
OMIM:614897	FLRT3	23767	HP:0008734	Decreased testicular size
OMIM:614897	FLRT3	23767	HP:0000054	Micropenis
OMIM:614897	FLRT3	23767	HP:0000458	Anosmia
OMIM:614897	FLRT3	23767	HP:0000786	Primary amenorrhea
OMIM:614897	FLRT3	23767	HP:0000028	Cryptorchidism
OMIM:614897	FLRT3	23767	HP:0003812	Phenotypic variability
OMIM:614897	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:614897	DUSP6	1848	HP:0000027	Azoospermia
OMIM:614897	DUSP6	1848	HP:0008734	Decreased testicular size
OMIM:614897	DUSP6	1848	HP:0000054	Micropenis
OMIM:614897	DUSP6	1848	HP:0000458	Anosmia
OMIM:614897	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:614897	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:614897	DUSP6	1848	HP:0003812	Phenotypic variability
OMIM:614897	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:614897	SPRY4	81848	HP:0000027	Azoospermia
OMIM:614897	SPRY4	81848	HP:0008734	Decreased testicular size
OMIM:614897	SPRY4	81848	HP:0000054	Micropenis
OMIM:614897	SPRY4	81848	HP:0000458	Anosmia
OMIM:614897	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:614897	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:614897	SPRY4	81848	HP:0003812	Phenotypic variability
OMIM:614897	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:614897	KISS1R	84634	HP:0000027	Azoospermia
OMIM:614897	KISS1R	84634	HP:0008734	Decreased testicular size
OMIM:614897	KISS1R	84634	HP:0000054	Micropenis
OMIM:614897	KISS1R	84634	HP:0000458	Anosmia
OMIM:614897	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:614897	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:614897	KISS1R	84634	HP:0003812	Phenotypic variability
OMIM:614897	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:614897	NSMF	26012	HP:0000027	Azoospermia
OMIM:614897	NSMF	26012	HP:0008734	Decreased testicular size
OMIM:614897	NSMF	26012	HP:0000054	Micropenis
OMIM:614897	NSMF	26012	HP:0000458	Anosmia
OMIM:614897	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:614897	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:614897	NSMF	26012	HP:0003812	Phenotypic variability
OMIM:614212	CPT2	1376	HP:0001298	Encephalopathy
OMIM:614212	CPT2	1376	HP:0002181	Cerebral edema
OMIM:614212	CPT2	1376	HP:0000007	Autosomal recessive inheritance
OMIM:614212	CPT2	1376	HP:0001250	Seizures
OMIM:614212	CPT2	1376	HP:0001259	Coma
OMIM:614212	CPT2	1376	HP:0000006	Autosomal dominant inheritance
OMIM:614212	RANBP2	5903	HP:0001298	Encephalopathy
OMIM:614212	RANBP2	5903	HP:0002181	Cerebral edema
OMIM:614212	RANBP2	5903	HP:0000007	Autosomal recessive inheritance
OMIM:614212	RANBP2	5903	HP:0001250	Seizures
OMIM:614212	RANBP2	5903	HP:0001259	Coma
OMIM:614212	RANBP2	5903	HP:0000006	Autosomal dominant inheritance
OMIM:250250	RMRP	6023	HP:0000545	Myopia
OMIM:250250	RMRP	6023	HP:0002251	Aganglionic megacolon
OMIM:250250	RMRP	6023	HP:0002650	Scoliosis
OMIM:250250	RMRP	6023	HP:0009832	Abnormality of the distal phalanx of finger
OMIM:250250	RMRP	6023	HP:0000444	Convex nasal ridge
OMIM:250250	RMRP	6023	HP:0002240	Hepatomegaly
OMIM:250250	RMRP	6023	HP:0003220	Abnormality of chromosome stability
OMIM:250250	RMRP	6023	HP:0004348	Abnormality of bone mineral density
OMIM:250250	RMRP	6023	HP:0008069	Neoplasm of the skin
OMIM:250250	RMRP	6023	HP:0005374	Cellular immunodeficiency
OMIM:250250	RMRP	6023	HP:0005616	Accelerated skeletal maturation
OMIM:250250	RMRP	6023	HP:0002750	Delayed skeletal maturation
OMIM:250250	RMRP	6023	HP:0100729	Large face
OMIM:250250	RMRP	6023	HP:0000174	Abnormality of the palate
OMIM:250250	RMRP	6023	HP:0004279	Short palm
OMIM:250250	RMRP	6023	HP:0010306	Short thorax
OMIM:250250	RMRP	6023	HP:0002093	Respiratory insufficiency
OMIM:250250	RMRP	6023	HP:0002665	Lymphoma
OMIM:250250	RMRP	6023	HP:0002901	Hypocalcemia
OMIM:250250	RMRP	6023	HP:0000272	Malar flattening
OMIM:250250	RMRP	6023	HP:0008056	Aplasia/Hypoplasia affecting the eye
OMIM:250250	RMRP	6023	HP:0000960	Sacral dimple
OMIM:250250	RMRP	6023	HP:0001315	Reduced tendon reflexes
OMIM:250250	RMRP	6023	HP:0002213	Fine hair
OMIM:250250	RMRP	6023	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:250250	RMRP	6023	HP:0001732	Abnormality of the pancreas
OMIM:250250	RMRP	6023	HP:0003021	Metaphyseal cupping
OMIM:250250	RMRP	6023	HP:0100255	Metaphyseal dysplasia
OMIM:250250	RMRP	6023	HP:0000457	Depressed nasal ridge
OMIM:250250	RMRP	6023	HP:0000768	Pectus carinatum
OMIM:250250	RMRP	6023	HP:0001639	Hypertrophic cardiomyopathy
OMIM:250250	RMRP	6023	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:250250	RMRP	6023	HP:0001972	Macrocytic anemia
OMIM:250250	RMRP	6023	HP:0000431	Wide nasal bridge
OMIM:250250	RMRP	6023	HP:0000470	Short neck
OMIM:250250	RMRP	6023	HP:0000463	Anteverted nares
OMIM:250250	RMRP	6023	HP:0000592	Blue sclerae
OMIM:250250	RMRP	6023	HP:0000486	Strabismus
OMIM:250250	RMRP	6023	HP:0002024	Malabsorption
OMIM:250250	RMRP	6023	HP:0010301	Spinal dysraphism
OMIM:250250	RMRP	6023	HP:0000400	Macrotia
OMIM:250250	RMRP	6023	HP:0004313	Decreased antibody level in blood
OMIM:250250	RMRP	6023	HP:0003016	Metaphyseal widening
OMIM:250250	RMRP	6023	HP:0002983	Micromelia
OMIM:250250	RMRP	6023	HP:0003272	Abnormality of the hip bone
OMIM:250250	RMRP	6023	HP:0000653	Sparse eyelashes
OMIM:250250	RMRP	6023	HP:0000368	Low-set, posteriorly rotated ears
OMIM:250250	RMRP	6023	HP:0100569	Abnormal vertebral ossification
OMIM:250250	RMRP	6023	HP:0011675	Arrhythmia
OMIM:250250	RMRP	6023	HP:0006487	Bowing of the long bones
OMIM:250250	RMRP	6023	HP:0002007	Frontal bossing
OMIM:250250	RMRP	6023	HP:0002353	EEG abnormality
OMIM:250250	RMRP	6023	HP:0000535	Sparse eyebrow
OMIM:250250	RMRP	6023	HP:0002777	Tracheal stenosis
OMIM:250250	RMRP	6023	HP:0007703	Abnormality of retinal pigmentation
OMIM:250250	RMRP	6023	HP:0100543	Cognitive impairment
OMIM:250250	RMRP	6023	HP:0000248	Brachycephaly
OMIM:250250	RMRP	6023	HP:0000774	Narrow chest
OMIM:250250	RMRP	6023	HP:0001671	Abnormality of the cardiac septa
OMIM:250250	RMRP	6023	HP:0002032	Esophageal atresia
OMIM:250250	RMRP	6023	HP:0002938	Lumbar hyperlordosis
OMIM:250250	RMRP	6023	HP:0008155	Mucopolysacchariduria
OMIM:250250	RMRP	6023	HP:0000540	Hypermetropia
OMIM:250250	RMRP	6023	HP:0000505	Visual impairment
OMIM:250250	RMRP	6023	HP:0001382	Joint hypermobility
OMIM:250250	RMRP	6023	HP:0000007	Autosomal recessive inheritance
OMIM:250250	RMRP	6023	HP:0000286	Epicanthus
OMIM:250250	RMRP	6023	HP:0000347	Micrognathia
OMIM:250250	RMRP	6023	HP:0005280	Depressed nasal bridge
OMIM:250250	RMRP	6023	HP:0004322	Short stature
OMIM:250250	RMRP	6023	HP:0001156	Brachydactyly syndrome
OMIM:250250	RMRP	6023	HP:0005930	Abnormality of epiphysis morphology
OMIM:250250	RMRP	6023	HP:0000212	Gingival overgrowth
OMIM:250250	RMRP	6023	HP:0002992	Abnormality of the tibia
OMIM:250250	RMRP	6023	HP:0001252	Muscular hypotonia
OMIM:250250	RMRP	6023	HP:0011362	Abnormal hair quantity
OMIM:250250	RMRP	6023	HP:0001875	Neutropenia
OMIM:604308	FBN1	2200	HP:0001065	Striae distensae
OMIM:604308	FBN1	2200	HP:0000766	Abnormality of the sternum
OMIM:604308	FBN1	2200	HP:0001724	Aortic dilatation
OMIM:604308	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:604308	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:248900	SPG21	51324	HP:0003487	Babinski sign
OMIM:248900	SPG21	51324	HP:0003674	Onset
OMIM:248900	SPG21	51324	HP:0007340	Lower limb muscle weakness
OMIM:248900	SPG21	51324	HP:0001260	Dysarthria
OMIM:248900	SPG21	51324	HP:0002186	Apraxia
OMIM:248900	SPG21	51324	HP:0000007	Autosomal recessive inheritance
OMIM:248900	SPG21	51324	HP:0001347	Hyperreflexia
OMIM:248900	SPG21	51324	HP:0001270	Motor delay
OMIM:248900	SPG21	51324	HP:0002015	Dysphagia
OMIM:248900	SPG21	51324	HP:0001288	Gait disturbance
OMIM:248900	SPG21	51324	HP:0002313	Spastic paraparesis
OMIM:248900	SPG21	51324	HP:0009830	Peripheral neuropathy
OMIM:248900	SPG21	51324	HP:0000726	Dementia
OMIM:248900	SPG21	51324	HP:0001258	Spastic paraplegia
OMIM:248900	SPG21	51324	HP:0001317	Abnormality of the cerebellum
OMIM:310440	VMA21	203547	HP:0003202	Skeletal muscle atrophy
OMIM:310440	VMA21	203547	HP:0003198	Myopathy
OMIM:310440	VMA21	203547	HP:0008994	Proximal muscle weakness in lower limbs
OMIM:310440	VMA21	203547	HP:0001419	X-linked recessive inheritance
OMIM:310440	VMA21	203547	HP:0003829	Incomplete penetrance
OMIM:310440	VMA21	203547	HP:0003236	Elevated serum creatine phosphokinase
OMIM:310440	VMA21	203547	HP:0003677	Slow progression
OMIM:153840	IMPG1	3617	HP:0000006	Autosomal dominant inheritance
OMIM:153840	IMPG1	3617	HP:0000505	Visual impairment
OMIM:153840	IMPG1	3617	HP:0001123	Visual field defect
OMIM:153840	IMPG1	3617	HP:0003584	Late onset
OMIM:153840	IMPG1	3617	HP:0007663	Reduced visual acuity
OMIM:153840	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:153840	PRPH2	5961	HP:0000505	Visual impairment
OMIM:153840	PRPH2	5961	HP:0001123	Visual field defect
OMIM:153840	PRPH2	5961	HP:0003584	Late onset
OMIM:153840	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:153840	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:153840	IMPG2	50939	HP:0000505	Visual impairment
OMIM:153840	IMPG2	50939	HP:0001123	Visual field defect
OMIM:153840	IMPG2	50939	HP:0003584	Late onset
OMIM:153840	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:153840	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:153840	BEST1	7439	HP:0000505	Visual impairment
OMIM:153840	BEST1	7439	HP:0001123	Visual field defect
OMIM:153840	BEST1	7439	HP:0003584	Late onset
OMIM:153840	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:615007	PDGFB	5155	HP:0000639	Nystagmus
OMIM:615007	PDGFB	5155	HP:0000006	Autosomal dominant inheritance
OMIM:615007	PDGFB	5155	HP:0001300	Parkinsonism
OMIM:615007	PDGFB	5155	HP:0002135	Basal ganglia calcification
OMIM:615007	PDGFB	5155	HP:0002076	Migraine
OMIM:615007	PDGFB	5155	HP:0000726	Dementia
OMIM:615007	PDGFRB	5159	HP:0000639	Nystagmus
OMIM:615007	PDGFRB	5159	HP:0000006	Autosomal dominant inheritance
OMIM:615007	PDGFRB	5159	HP:0001300	Parkinsonism
OMIM:615007	PDGFRB	5159	HP:0002135	Basal ganglia calcification
OMIM:615007	PDGFRB	5159	HP:0002076	Migraine
OMIM:615007	PDGFRB	5159	HP:0000726	Dementia
OMIM:615007	XPR1	9213	HP:0000639	Nystagmus
OMIM:615007	XPR1	9213	HP:0000006	Autosomal dominant inheritance
OMIM:615007	XPR1	9213	HP:0001300	Parkinsonism
OMIM:615007	XPR1	9213	HP:0002135	Basal ganglia calcification
OMIM:615007	XPR1	9213	HP:0002076	Migraine
OMIM:615007	XPR1	9213	HP:0000726	Dementia
OMIM:615007	SLC20A2	6575	HP:0000639	Nystagmus
OMIM:615007	SLC20A2	6575	HP:0000006	Autosomal dominant inheritance
OMIM:615007	SLC20A2	6575	HP:0001300	Parkinsonism
OMIM:615007	SLC20A2	6575	HP:0002135	Basal ganglia calcification
OMIM:615007	SLC20A2	6575	HP:0002076	Migraine
OMIM:615007	SLC20A2	6575	HP:0000726	Dementia
OMIM:604286	SGCB	6443	HP:0001644	Dilated cardiomyopathy
OMIM:604286	SGCB	6443	HP:0007126	Proximal amyotrophy
OMIM:604286	SGCB	6443	HP:0003691	Scapular winging
OMIM:604286	SGCB	6443	HP:0008988	Pelvic girdle muscle atrophy
OMIM:604286	SGCB	6443	HP:0003560	Muscular dystrophy
OMIM:604286	SGCB	6443	HP:0003724	Shoulder girdle muscle atrophy
OMIM:604286	SGCB	6443	HP:0003325	Limb-girdle muscle weakness
OMIM:604286	SGCB	6443	HP:0003621	Juvenile onset
OMIM:604286	SGCB	6443	HP:0003236	Elevated serum creatine phosphokinase
OMIM:604286	SGCB	6443	HP:0003707	Calf muscle pseudohypertrophy
OMIM:604286	SGCB	6443	HP:0000007	Autosomal recessive inheritance
OMIM:613702	GDF3	9573	HP:0000006	Autosomal dominant inheritance
OMIM:613702	GDF3	9573	HP:0002650	Scoliosis
OMIM:613702	GDF6	392255	HP:0000006	Autosomal dominant inheritance
OMIM:613702	GDF6	392255	HP:0002650	Scoliosis
OMIM:613702	MEOX1	4222	HP:0000006	Autosomal dominant inheritance
OMIM:613702	MEOX1	4222	HP:0002650	Scoliosis
OMIM:616040	SLC25A1	6576	HP:0001765	Hammertoe
OMIM:616040	SLC25A1	6576	HP:0001761	Pes cavus
OMIM:616040	SLC25A1	6576	HP:0003701	Proximal muscle weakness
OMIM:616040	SLC25A1	6576	HP:0001284	Areflexia
OMIM:616040	SLC25A1	6576	HP:0000365	Hearing impairment
OMIM:616040	SLC25A1	6576	HP:0001265	Hyporeflexia
OMIM:616040	SLC25A1	6576	HP:0003202	Skeletal muscle atrophy
OMIM:616040	SLC25A1	6576	HP:0001288	Gait disturbance
OMIM:616040	SYT2	127833	HP:0001765	Hammertoe
OMIM:616040	SYT2	127833	HP:0001761	Pes cavus
OMIM:616040	SYT2	127833	HP:0003701	Proximal muscle weakness
OMIM:616040	SYT2	127833	HP:0001284	Areflexia
OMIM:616040	SYT2	127833	HP:0000365	Hearing impairment
OMIM:616040	SYT2	127833	HP:0001265	Hyporeflexia
OMIM:616040	SYT2	127833	HP:0003202	Skeletal muscle atrophy
OMIM:616040	SYT2	127833	HP:0001288	Gait disturbance
OMIM:616040	SNAP25	6616	HP:0001765	Hammertoe
OMIM:616040	SNAP25	6616	HP:0001761	Pes cavus
OMIM:616040	SNAP25	6616	HP:0003701	Proximal muscle weakness
OMIM:616040	SNAP25	6616	HP:0001284	Areflexia
OMIM:616040	SNAP25	6616	HP:0000365	Hearing impairment
OMIM:616040	SNAP25	6616	HP:0001265	Hyporeflexia
OMIM:616040	SNAP25	6616	HP:0003202	Skeletal muscle atrophy
OMIM:616040	SNAP25	6616	HP:0001288	Gait disturbance
OMIM:616040	AGRN	375790	HP:0001765	Hammertoe
OMIM:616040	AGRN	375790	HP:0001761	Pes cavus
OMIM:616040	AGRN	375790	HP:0003701	Proximal muscle weakness
OMIM:616040	AGRN	375790	HP:0001284	Areflexia
OMIM:616040	AGRN	375790	HP:0000365	Hearing impairment
OMIM:616040	AGRN	375790	HP:0001265	Hyporeflexia
OMIM:616040	AGRN	375790	HP:0003202	Skeletal muscle atrophy
OMIM:616040	AGRN	375790	HP:0001288	Gait disturbance
OMIM:616040	CHAT	1103	HP:0001765	Hammertoe
OMIM:616040	CHAT	1103	HP:0001761	Pes cavus
OMIM:616040	CHAT	1103	HP:0003701	Proximal muscle weakness
OMIM:616040	CHAT	1103	HP:0001284	Areflexia
OMIM:616040	CHAT	1103	HP:0000365	Hearing impairment
OMIM:616040	CHAT	1103	HP:0001265	Hyporeflexia
OMIM:616040	CHAT	1103	HP:0003202	Skeletal muscle atrophy
OMIM:616040	CHAT	1103	HP:0001288	Gait disturbance
OMIM:146830	CD19	930	HP:0000006	Autosomal dominant inheritance
OMIM:146830	CD19	930	HP:0002719	Recurrent infections
OMIM:146830	CD19	930	HP:0004315	IgG deficiency
OMIM:146830	CD19	930	HP:0002721	Immunodeficiency
OMIM:146830	TNFRSF13C	115650	HP:0000006	Autosomal dominant inheritance
OMIM:146830	TNFRSF13C	115650	HP:0002719	Recurrent infections
OMIM:146830	TNFRSF13C	115650	HP:0004315	IgG deficiency
OMIM:146830	TNFRSF13C	115650	HP:0002721	Immunodeficiency
OMIM:146830	MS4A1	931	HP:0000006	Autosomal dominant inheritance
OMIM:146830	MS4A1	931	HP:0002719	Recurrent infections
OMIM:146830	MS4A1	931	HP:0004315	IgG deficiency
OMIM:146830	MS4A1	931	HP:0002721	Immunodeficiency
OMIM:146830	CR2	1380	HP:0000006	Autosomal dominant inheritance
OMIM:146830	CR2	1380	HP:0002719	Recurrent infections
OMIM:146830	CR2	1380	HP:0004315	IgG deficiency
OMIM:146830	CR2	1380	HP:0002721	Immunodeficiency
OMIM:146830	TNFSF12	8742	HP:0000006	Autosomal dominant inheritance
OMIM:146830	TNFSF12	8742	HP:0002719	Recurrent infections
OMIM:146830	TNFSF12	8742	HP:0004315	IgG deficiency
OMIM:146830	TNFSF12	8742	HP:0002721	Immunodeficiency
OMIM:146830	NFKB1	4790	HP:0000006	Autosomal dominant inheritance
OMIM:146830	NFKB1	4790	HP:0002719	Recurrent infections
OMIM:146830	NFKB1	4790	HP:0004315	IgG deficiency
OMIM:146830	NFKB1	4790	HP:0002721	Immunodeficiency
OMIM:146830	TNFRSF13B	23495	HP:0000006	Autosomal dominant inheritance
OMIM:146830	TNFRSF13B	23495	HP:0002719	Recurrent infections
OMIM:146830	TNFRSF13B	23495	HP:0004315	IgG deficiency
OMIM:146830	TNFRSF13B	23495	HP:0002721	Immunodeficiency
OMIM:146830	NFKB2	4791	HP:0000006	Autosomal dominant inheritance
OMIM:146830	NFKB2	4791	HP:0002719	Recurrent infections
OMIM:146830	NFKB2	4791	HP:0004315	IgG deficiency
OMIM:146830	NFKB2	4791	HP:0002721	Immunodeficiency
OMIM:146830	ICOS	29851	HP:0000006	Autosomal dominant inheritance
OMIM:146830	ICOS	29851	HP:0002719	Recurrent infections
OMIM:146830	ICOS	29851	HP:0004315	IgG deficiency
OMIM:146830	ICOS	29851	HP:0002721	Immunodeficiency
OMIM:146830	LRBA	987	HP:0000006	Autosomal dominant inheritance
OMIM:146830	LRBA	987	HP:0002719	Recurrent infections
OMIM:146830	LRBA	987	HP:0004315	IgG deficiency
OMIM:146830	LRBA	987	HP:0002721	Immunodeficiency
OMIM:146830	PRKCD	5580	HP:0000006	Autosomal dominant inheritance
OMIM:146830	PRKCD	5580	HP:0002719	Recurrent infections
OMIM:146830	PRKCD	5580	HP:0004315	IgG deficiency
OMIM:146830	PRKCD	5580	HP:0002721	Immunodeficiency
OMIM:146830	CD81	975	HP:0000006	Autosomal dominant inheritance
OMIM:146830	CD81	975	HP:0002719	Recurrent infections
OMIM:146830	CD81	975	HP:0004315	IgG deficiency
OMIM:146830	CD81	975	HP:0002721	Immunodeficiency
OMIM:614751	BSCL2	26580	HP:0001265	Hyporeflexia
OMIM:614751	BSCL2	26580	HP:0000006	Autosomal dominant inheritance
OMIM:614751	BSCL2	26580	HP:0002460	Distal muscle weakness
OMIM:614751	BSCL2	26580	HP:0003693	Distal amyotrophy
OMIM:614751	BSCL2	26580	HP:0001284	Areflexia
OMIM:614751	BSCL2	26580	HP:0001761	Pes cavus
OMIM:614751	GARS	2617	HP:0001265	Hyporeflexia
OMIM:614751	GARS	2617	HP:0000006	Autosomal dominant inheritance
OMIM:614751	GARS	2617	HP:0002460	Distal muscle weakness
OMIM:614751	GARS	2617	HP:0003693	Distal amyotrophy
OMIM:614751	GARS	2617	HP:0001284	Areflexia
OMIM:614751	GARS	2617	HP:0001761	Pes cavus
OMIM:614751	REEP1	65055	HP:0001265	Hyporeflexia
OMIM:614751	REEP1	65055	HP:0000006	Autosomal dominant inheritance
OMIM:614751	REEP1	65055	HP:0002460	Distal muscle weakness
OMIM:614751	REEP1	65055	HP:0003693	Distal amyotrophy
OMIM:614751	REEP1	65055	HP:0001284	Areflexia
OMIM:614751	REEP1	65055	HP:0001761	Pes cavus
OMIM:249000	B9D1	27077	HP:0003241	External genital hypoplasia
OMIM:249000	B9D1	27077	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	B9D1	27077	HP:0002089	Pulmonary hypoplasia
OMIM:249000	B9D1	27077	HP:0001274	Agenesis of corpus callosum
OMIM:249000	B9D1	27077	HP:0000130	Abnormality of the uterus
OMIM:249000	B9D1	27077	HP:0001511	Intrauterine growth retardation
OMIM:249000	B9D1	27077	HP:0001408	Bile duct proliferation
OMIM:249000	B9D1	27077	HP:0002085	Occipital encephalocele
OMIM:249000	B9D1	27077	HP:0009466	Radial deviation of finger
OMIM:249000	B9D1	27077	HP:0000340	Sloping forehead
OMIM:249000	B9D1	27077	HP:0001680	Coarctation of aorta
OMIM:249000	B9D1	27077	HP:0006872	Cerebral hypoplasia
OMIM:249000	B9D1	27077	HP:0000347	Micrognathia
OMIM:249000	B9D1	27077	HP:0001162	Postaxial hand polydactyly
OMIM:249000	B9D1	27077	HP:0001305	Dandy-Walker malformation
OMIM:249000	B9D1	27077	HP:0001539	Omphalocele
OMIM:249000	B9D1	27077	HP:0000612	Iris coloboma
OMIM:249000	B9D1	27077	HP:0000007	Autosomal recessive inheritance
OMIM:249000	B9D1	27077	HP:0006487	Bowing of the long bones
OMIM:249000	B9D1	27077	HP:0000252	Microcephaly
OMIM:249000	B9D1	27077	HP:0000695	Natal tooth
OMIM:249000	B9D1	27077	HP:0000369	Low-set ears
OMIM:249000	B9D1	27077	HP:0000601	Hypotelorism
OMIM:249000	B9D1	27077	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	B9D1	27077	HP:0001744	Splenomegaly
OMIM:249000	B9D1	27077	HP:0002566	Intestinal malrotation
OMIM:249000	B9D1	27077	HP:0030084	Clinodactyly
OMIM:249000	B9D1	27077	HP:0000465	Webbed neck
OMIM:249000	B9D1	27077	HP:0000104	Renal agenesis
OMIM:249000	B9D1	27077	HP:0002023	Anal atresia
OMIM:249000	B9D1	27077	HP:0000028	Cryptorchidism
OMIM:249000	B9D1	27077	HP:0000238	Hydrocephalus
OMIM:249000	B9D1	27077	HP:0001643	Patent ductus arteriosus
OMIM:249000	B9D1	27077	HP:0002323	Anencephaly
OMIM:249000	B9D1	27077	HP:0001159	Syndactyly
OMIM:249000	B9D1	27077	HP:0000470	Short neck
OMIM:249000	B9D1	27077	HP:0001600	Abnormality of the larynx
OMIM:249000	B9D1	27077	HP:0001321	Cerebellar hypoplasia
OMIM:249000	B9D1	27077	HP:0000316	Hypertelorism
OMIM:249000	B9D1	27077	HP:0002308	Arnold-Chiari malformation
OMIM:249000	B9D1	27077	HP:0001829	Foot polydactyly
OMIM:249000	B9D1	27077	HP:0006267	Large placenta
OMIM:249000	B9D1	27077	HP:0000069	Abnormality of the ureter
OMIM:249000	B9D1	27077	HP:0000835	Adrenal hypoplasia
OMIM:249000	B9D1	27077	HP:0001562	Oligohydramnios
OMIM:249000	B9D1	27077	HP:0001883	Talipes
OMIM:249000	B9D1	27077	HP:0000175	Cleft palate
OMIM:249000	B9D1	27077	HP:0000568	Microphthalmia
OMIM:249000	B9D1	27077	HP:0000204	Cleft upper lip
OMIM:249000	B9D1	27077	HP:0000154	Wide mouth
OMIM:249000	RPGRIP1	57096	HP:0003241	External genital hypoplasia
OMIM:249000	RPGRIP1	57096	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	RPGRIP1	57096	HP:0002089	Pulmonary hypoplasia
OMIM:249000	RPGRIP1	57096	HP:0001274	Agenesis of corpus callosum
OMIM:249000	RPGRIP1	57096	HP:0000130	Abnormality of the uterus
OMIM:249000	RPGRIP1	57096	HP:0001511	Intrauterine growth retardation
OMIM:249000	RPGRIP1	57096	HP:0001408	Bile duct proliferation
OMIM:249000	RPGRIP1	57096	HP:0002085	Occipital encephalocele
OMIM:249000	RPGRIP1	57096	HP:0009466	Radial deviation of finger
OMIM:249000	RPGRIP1	57096	HP:0000340	Sloping forehead
OMIM:249000	RPGRIP1	57096	HP:0001680	Coarctation of aorta
OMIM:249000	RPGRIP1	57096	HP:0006872	Cerebral hypoplasia
OMIM:249000	RPGRIP1	57096	HP:0000347	Micrognathia
OMIM:249000	RPGRIP1	57096	HP:0001162	Postaxial hand polydactyly
OMIM:249000	RPGRIP1	57096	HP:0001305	Dandy-Walker malformation
OMIM:249000	RPGRIP1	57096	HP:0001539	Omphalocele
OMIM:249000	RPGRIP1	57096	HP:0000612	Iris coloboma
OMIM:249000	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:249000	RPGRIP1	57096	HP:0006487	Bowing of the long bones
OMIM:249000	RPGRIP1	57096	HP:0000252	Microcephaly
OMIM:249000	RPGRIP1	57096	HP:0000695	Natal tooth
OMIM:249000	RPGRIP1	57096	HP:0000369	Low-set ears
OMIM:249000	RPGRIP1	57096	HP:0000601	Hypotelorism
OMIM:249000	RPGRIP1	57096	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	RPGRIP1	57096	HP:0001744	Splenomegaly
OMIM:249000	RPGRIP1	57096	HP:0002566	Intestinal malrotation
OMIM:249000	RPGRIP1	57096	HP:0030084	Clinodactyly
OMIM:249000	RPGRIP1	57096	HP:0000465	Webbed neck
OMIM:249000	RPGRIP1	57096	HP:0000104	Renal agenesis
OMIM:249000	RPGRIP1	57096	HP:0002023	Anal atresia
OMIM:249000	RPGRIP1	57096	HP:0000028	Cryptorchidism
OMIM:249000	RPGRIP1	57096	HP:0000238	Hydrocephalus
OMIM:249000	RPGRIP1	57096	HP:0001643	Patent ductus arteriosus
OMIM:249000	RPGRIP1	57096	HP:0002323	Anencephaly
OMIM:249000	RPGRIP1	57096	HP:0001159	Syndactyly
OMIM:249000	RPGRIP1	57096	HP:0000470	Short neck
OMIM:249000	RPGRIP1	57096	HP:0001600	Abnormality of the larynx
OMIM:249000	RPGRIP1	57096	HP:0001321	Cerebellar hypoplasia
OMIM:249000	RPGRIP1	57096	HP:0000316	Hypertelorism
OMIM:249000	RPGRIP1	57096	HP:0002308	Arnold-Chiari malformation
OMIM:249000	RPGRIP1	57096	HP:0001829	Foot polydactyly
OMIM:249000	RPGRIP1	57096	HP:0006267	Large placenta
OMIM:249000	RPGRIP1	57096	HP:0000069	Abnormality of the ureter
OMIM:249000	RPGRIP1	57096	HP:0000835	Adrenal hypoplasia
OMIM:249000	RPGRIP1	57096	HP:0001562	Oligohydramnios
OMIM:249000	RPGRIP1	57096	HP:0001883	Talipes
OMIM:249000	RPGRIP1	57096	HP:0000175	Cleft palate
OMIM:249000	RPGRIP1	57096	HP:0000568	Microphthalmia
OMIM:249000	RPGRIP1	57096	HP:0000204	Cleft upper lip
OMIM:249000	RPGRIP1	57096	HP:0000154	Wide mouth
OMIM:249000	CC2D2A	57545	HP:0003241	External genital hypoplasia
OMIM:249000	CC2D2A	57545	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	CC2D2A	57545	HP:0002089	Pulmonary hypoplasia
OMIM:249000	CC2D2A	57545	HP:0001274	Agenesis of corpus callosum
OMIM:249000	CC2D2A	57545	HP:0000130	Abnormality of the uterus
OMIM:249000	CC2D2A	57545	HP:0001511	Intrauterine growth retardation
OMIM:249000	CC2D2A	57545	HP:0001408	Bile duct proliferation
OMIM:249000	CC2D2A	57545	HP:0002085	Occipital encephalocele
OMIM:249000	CC2D2A	57545	HP:0009466	Radial deviation of finger
OMIM:249000	CC2D2A	57545	HP:0000340	Sloping forehead
OMIM:249000	CC2D2A	57545	HP:0001680	Coarctation of aorta
OMIM:249000	CC2D2A	57545	HP:0006872	Cerebral hypoplasia
OMIM:249000	CC2D2A	57545	HP:0000347	Micrognathia
OMIM:249000	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:249000	CC2D2A	57545	HP:0001305	Dandy-Walker malformation
OMIM:249000	CC2D2A	57545	HP:0001539	Omphalocele
OMIM:249000	CC2D2A	57545	HP:0000612	Iris coloboma
OMIM:249000	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:249000	CC2D2A	57545	HP:0006487	Bowing of the long bones
OMIM:249000	CC2D2A	57545	HP:0000252	Microcephaly
OMIM:249000	CC2D2A	57545	HP:0000695	Natal tooth
OMIM:249000	CC2D2A	57545	HP:0000369	Low-set ears
OMIM:249000	CC2D2A	57545	HP:0000601	Hypotelorism
OMIM:249000	CC2D2A	57545	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	CC2D2A	57545	HP:0001744	Splenomegaly
OMIM:249000	CC2D2A	57545	HP:0002566	Intestinal malrotation
OMIM:249000	CC2D2A	57545	HP:0030084	Clinodactyly
OMIM:249000	CC2D2A	57545	HP:0000465	Webbed neck
OMIM:249000	CC2D2A	57545	HP:0000104	Renal agenesis
OMIM:249000	CC2D2A	57545	HP:0002023	Anal atresia
OMIM:249000	CC2D2A	57545	HP:0000028	Cryptorchidism
OMIM:249000	CC2D2A	57545	HP:0000238	Hydrocephalus
OMIM:249000	CC2D2A	57545	HP:0001643	Patent ductus arteriosus
OMIM:249000	CC2D2A	57545	HP:0002323	Anencephaly
OMIM:249000	CC2D2A	57545	HP:0001159	Syndactyly
OMIM:249000	CC2D2A	57545	HP:0000470	Short neck
OMIM:249000	CC2D2A	57545	HP:0001600	Abnormality of the larynx
OMIM:249000	CC2D2A	57545	HP:0001321	Cerebellar hypoplasia
OMIM:249000	CC2D2A	57545	HP:0000316	Hypertelorism
OMIM:249000	CC2D2A	57545	HP:0002308	Arnold-Chiari malformation
OMIM:249000	CC2D2A	57545	HP:0001829	Foot polydactyly
OMIM:249000	CC2D2A	57545	HP:0006267	Large placenta
OMIM:249000	CC2D2A	57545	HP:0000069	Abnormality of the ureter
OMIM:249000	CC2D2A	57545	HP:0000835	Adrenal hypoplasia
OMIM:249000	CC2D2A	57545	HP:0001562	Oligohydramnios
OMIM:249000	CC2D2A	57545	HP:0001883	Talipes
OMIM:249000	CC2D2A	57545	HP:0000175	Cleft palate
OMIM:249000	CC2D2A	57545	HP:0000568	Microphthalmia
OMIM:249000	CC2D2A	57545	HP:0000204	Cleft upper lip
OMIM:249000	CC2D2A	57545	HP:0000154	Wide mouth
OMIM:249000	B9D2	80776	HP:0003241	External genital hypoplasia
OMIM:249000	B9D2	80776	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	B9D2	80776	HP:0002089	Pulmonary hypoplasia
OMIM:249000	B9D2	80776	HP:0001274	Agenesis of corpus callosum
OMIM:249000	B9D2	80776	HP:0000130	Abnormality of the uterus
OMIM:249000	B9D2	80776	HP:0001511	Intrauterine growth retardation
OMIM:249000	B9D2	80776	HP:0001408	Bile duct proliferation
OMIM:249000	B9D2	80776	HP:0002085	Occipital encephalocele
OMIM:249000	B9D2	80776	HP:0009466	Radial deviation of finger
OMIM:249000	B9D2	80776	HP:0000340	Sloping forehead
OMIM:249000	B9D2	80776	HP:0001680	Coarctation of aorta
OMIM:249000	B9D2	80776	HP:0006872	Cerebral hypoplasia
OMIM:249000	B9D2	80776	HP:0000347	Micrognathia
OMIM:249000	B9D2	80776	HP:0001162	Postaxial hand polydactyly
OMIM:249000	B9D2	80776	HP:0001305	Dandy-Walker malformation
OMIM:249000	B9D2	80776	HP:0001539	Omphalocele
OMIM:249000	B9D2	80776	HP:0000612	Iris coloboma
OMIM:249000	B9D2	80776	HP:0000007	Autosomal recessive inheritance
OMIM:249000	B9D2	80776	HP:0006487	Bowing of the long bones
OMIM:249000	B9D2	80776	HP:0000252	Microcephaly
OMIM:249000	B9D2	80776	HP:0000695	Natal tooth
OMIM:249000	B9D2	80776	HP:0000369	Low-set ears
OMIM:249000	B9D2	80776	HP:0000601	Hypotelorism
OMIM:249000	B9D2	80776	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	B9D2	80776	HP:0001744	Splenomegaly
OMIM:249000	B9D2	80776	HP:0002566	Intestinal malrotation
OMIM:249000	B9D2	80776	HP:0030084	Clinodactyly
OMIM:249000	B9D2	80776	HP:0000465	Webbed neck
OMIM:249000	B9D2	80776	HP:0000104	Renal agenesis
OMIM:249000	B9D2	80776	HP:0002023	Anal atresia
OMIM:249000	B9D2	80776	HP:0000028	Cryptorchidism
OMIM:249000	B9D2	80776	HP:0000238	Hydrocephalus
OMIM:249000	B9D2	80776	HP:0001643	Patent ductus arteriosus
OMIM:249000	B9D2	80776	HP:0002323	Anencephaly
OMIM:249000	B9D2	80776	HP:0001159	Syndactyly
OMIM:249000	B9D2	80776	HP:0000470	Short neck
OMIM:249000	B9D2	80776	HP:0001600	Abnormality of the larynx
OMIM:249000	B9D2	80776	HP:0001321	Cerebellar hypoplasia
OMIM:249000	B9D2	80776	HP:0000316	Hypertelorism
OMIM:249000	B9D2	80776	HP:0002308	Arnold-Chiari malformation
OMIM:249000	B9D2	80776	HP:0001829	Foot polydactyly
OMIM:249000	B9D2	80776	HP:0006267	Large placenta
OMIM:249000	B9D2	80776	HP:0000069	Abnormality of the ureter
OMIM:249000	B9D2	80776	HP:0000835	Adrenal hypoplasia
OMIM:249000	B9D2	80776	HP:0001562	Oligohydramnios
OMIM:249000	B9D2	80776	HP:0001883	Talipes
OMIM:249000	B9D2	80776	HP:0000175	Cleft palate
OMIM:249000	B9D2	80776	HP:0000568	Microphthalmia
OMIM:249000	B9D2	80776	HP:0000204	Cleft upper lip
OMIM:249000	B9D2	80776	HP:0000154	Wide mouth
OMIM:249000	CSPP1	79848	HP:0003241	External genital hypoplasia
OMIM:249000	CSPP1	79848	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	CSPP1	79848	HP:0002089	Pulmonary hypoplasia
OMIM:249000	CSPP1	79848	HP:0001274	Agenesis of corpus callosum
OMIM:249000	CSPP1	79848	HP:0000130	Abnormality of the uterus
OMIM:249000	CSPP1	79848	HP:0001511	Intrauterine growth retardation
OMIM:249000	CSPP1	79848	HP:0001408	Bile duct proliferation
OMIM:249000	CSPP1	79848	HP:0002085	Occipital encephalocele
OMIM:249000	CSPP1	79848	HP:0009466	Radial deviation of finger
OMIM:249000	CSPP1	79848	HP:0000340	Sloping forehead
OMIM:249000	CSPP1	79848	HP:0001680	Coarctation of aorta
OMIM:249000	CSPP1	79848	HP:0006872	Cerebral hypoplasia
OMIM:249000	CSPP1	79848	HP:0000347	Micrognathia
OMIM:249000	CSPP1	79848	HP:0001162	Postaxial hand polydactyly
OMIM:249000	CSPP1	79848	HP:0001305	Dandy-Walker malformation
OMIM:249000	CSPP1	79848	HP:0001539	Omphalocele
OMIM:249000	CSPP1	79848	HP:0000612	Iris coloboma
OMIM:249000	CSPP1	79848	HP:0000007	Autosomal recessive inheritance
OMIM:249000	CSPP1	79848	HP:0006487	Bowing of the long bones
OMIM:249000	CSPP1	79848	HP:0000252	Microcephaly
OMIM:249000	CSPP1	79848	HP:0000695	Natal tooth
OMIM:249000	CSPP1	79848	HP:0000369	Low-set ears
OMIM:249000	CSPP1	79848	HP:0000601	Hypotelorism
OMIM:249000	CSPP1	79848	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	CSPP1	79848	HP:0001744	Splenomegaly
OMIM:249000	CSPP1	79848	HP:0002566	Intestinal malrotation
OMIM:249000	CSPP1	79848	HP:0030084	Clinodactyly
OMIM:249000	CSPP1	79848	HP:0000465	Webbed neck
OMIM:249000	CSPP1	79848	HP:0000104	Renal agenesis
OMIM:249000	CSPP1	79848	HP:0002023	Anal atresia
OMIM:249000	CSPP1	79848	HP:0000028	Cryptorchidism
OMIM:249000	CSPP1	79848	HP:0000238	Hydrocephalus
OMIM:249000	CSPP1	79848	HP:0001643	Patent ductus arteriosus
OMIM:249000	CSPP1	79848	HP:0002323	Anencephaly
OMIM:249000	CSPP1	79848	HP:0001159	Syndactyly
OMIM:249000	CSPP1	79848	HP:0000470	Short neck
OMIM:249000	CSPP1	79848	HP:0001600	Abnormality of the larynx
OMIM:249000	CSPP1	79848	HP:0001321	Cerebellar hypoplasia
OMIM:249000	CSPP1	79848	HP:0000316	Hypertelorism
OMIM:249000	CSPP1	79848	HP:0002308	Arnold-Chiari malformation
OMIM:249000	CSPP1	79848	HP:0001829	Foot polydactyly
OMIM:249000	CSPP1	79848	HP:0006267	Large placenta
OMIM:249000	CSPP1	79848	HP:0000069	Abnormality of the ureter
OMIM:249000	CSPP1	79848	HP:0000835	Adrenal hypoplasia
OMIM:249000	CSPP1	79848	HP:0001562	Oligohydramnios
OMIM:249000	CSPP1	79848	HP:0001883	Talipes
OMIM:249000	CSPP1	79848	HP:0000175	Cleft palate
OMIM:249000	CSPP1	79848	HP:0000568	Microphthalmia
OMIM:249000	CSPP1	79848	HP:0000204	Cleft upper lip
OMIM:249000	CSPP1	79848	HP:0000154	Wide mouth
OMIM:249000	TMEM67	91147	HP:0003241	External genital hypoplasia
OMIM:249000	TMEM67	91147	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	TMEM67	91147	HP:0002089	Pulmonary hypoplasia
OMIM:249000	TMEM67	91147	HP:0001274	Agenesis of corpus callosum
OMIM:249000	TMEM67	91147	HP:0000130	Abnormality of the uterus
OMIM:249000	TMEM67	91147	HP:0001511	Intrauterine growth retardation
OMIM:249000	TMEM67	91147	HP:0001408	Bile duct proliferation
OMIM:249000	TMEM67	91147	HP:0002085	Occipital encephalocele
OMIM:249000	TMEM67	91147	HP:0009466	Radial deviation of finger
OMIM:249000	TMEM67	91147	HP:0000340	Sloping forehead
OMIM:249000	TMEM67	91147	HP:0001680	Coarctation of aorta
OMIM:249000	TMEM67	91147	HP:0006872	Cerebral hypoplasia
OMIM:249000	TMEM67	91147	HP:0000347	Micrognathia
OMIM:249000	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
OMIM:249000	TMEM67	91147	HP:0001305	Dandy-Walker malformation
OMIM:249000	TMEM67	91147	HP:0001539	Omphalocele
OMIM:249000	TMEM67	91147	HP:0000612	Iris coloboma
OMIM:249000	TMEM67	91147	HP:0000007	Autosomal recessive inheritance
OMIM:249000	TMEM67	91147	HP:0006487	Bowing of the long bones
OMIM:249000	TMEM67	91147	HP:0000252	Microcephaly
OMIM:249000	TMEM67	91147	HP:0000695	Natal tooth
OMIM:249000	TMEM67	91147	HP:0000369	Low-set ears
OMIM:249000	TMEM67	91147	HP:0000601	Hypotelorism
OMIM:249000	TMEM67	91147	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	TMEM67	91147	HP:0001744	Splenomegaly
OMIM:249000	TMEM67	91147	HP:0002566	Intestinal malrotation
OMIM:249000	TMEM67	91147	HP:0030084	Clinodactyly
OMIM:249000	TMEM67	91147	HP:0000465	Webbed neck
OMIM:249000	TMEM67	91147	HP:0000104	Renal agenesis
OMIM:249000	TMEM67	91147	HP:0002023	Anal atresia
OMIM:249000	TMEM67	91147	HP:0000028	Cryptorchidism
OMIM:249000	TMEM67	91147	HP:0000238	Hydrocephalus
OMIM:249000	TMEM67	91147	HP:0001643	Patent ductus arteriosus
OMIM:249000	TMEM67	91147	HP:0002323	Anencephaly
OMIM:249000	TMEM67	91147	HP:0001159	Syndactyly
OMIM:249000	TMEM67	91147	HP:0000470	Short neck
OMIM:249000	TMEM67	91147	HP:0001600	Abnormality of the larynx
OMIM:249000	TMEM67	91147	HP:0001321	Cerebellar hypoplasia
OMIM:249000	TMEM67	91147	HP:0000316	Hypertelorism
OMIM:249000	TMEM67	91147	HP:0002308	Arnold-Chiari malformation
OMIM:249000	TMEM67	91147	HP:0001829	Foot polydactyly
OMIM:249000	TMEM67	91147	HP:0006267	Large placenta
OMIM:249000	TMEM67	91147	HP:0000069	Abnormality of the ureter
OMIM:249000	TMEM67	91147	HP:0000835	Adrenal hypoplasia
OMIM:249000	TMEM67	91147	HP:0001562	Oligohydramnios
OMIM:249000	TMEM67	91147	HP:0001883	Talipes
OMIM:249000	TMEM67	91147	HP:0000175	Cleft palate
OMIM:249000	TMEM67	91147	HP:0000568	Microphthalmia
OMIM:249000	TMEM67	91147	HP:0000204	Cleft upper lip
OMIM:249000	TMEM67	91147	HP:0000154	Wide mouth
OMIM:249000	WDPCP	51057	HP:0003241	External genital hypoplasia
OMIM:249000	WDPCP	51057	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	WDPCP	51057	HP:0002089	Pulmonary hypoplasia
OMIM:249000	WDPCP	51057	HP:0001274	Agenesis of corpus callosum
OMIM:249000	WDPCP	51057	HP:0000130	Abnormality of the uterus
OMIM:249000	WDPCP	51057	HP:0001511	Intrauterine growth retardation
OMIM:249000	WDPCP	51057	HP:0001408	Bile duct proliferation
OMIM:249000	WDPCP	51057	HP:0002085	Occipital encephalocele
OMIM:249000	WDPCP	51057	HP:0009466	Radial deviation of finger
OMIM:249000	WDPCP	51057	HP:0000340	Sloping forehead
OMIM:249000	WDPCP	51057	HP:0001680	Coarctation of aorta
OMIM:249000	WDPCP	51057	HP:0006872	Cerebral hypoplasia
OMIM:249000	WDPCP	51057	HP:0000347	Micrognathia
OMIM:249000	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
OMIM:249000	WDPCP	51057	HP:0001305	Dandy-Walker malformation
OMIM:249000	WDPCP	51057	HP:0001539	Omphalocele
OMIM:249000	WDPCP	51057	HP:0000612	Iris coloboma
OMIM:249000	WDPCP	51057	HP:0000007	Autosomal recessive inheritance
OMIM:249000	WDPCP	51057	HP:0006487	Bowing of the long bones
OMIM:249000	WDPCP	51057	HP:0000252	Microcephaly
OMIM:249000	WDPCP	51057	HP:0000695	Natal tooth
OMIM:249000	WDPCP	51057	HP:0000369	Low-set ears
OMIM:249000	WDPCP	51057	HP:0000601	Hypotelorism
OMIM:249000	WDPCP	51057	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	WDPCP	51057	HP:0001744	Splenomegaly
OMIM:249000	WDPCP	51057	HP:0002566	Intestinal malrotation
OMIM:249000	WDPCP	51057	HP:0030084	Clinodactyly
OMIM:249000	WDPCP	51057	HP:0000465	Webbed neck
OMIM:249000	WDPCP	51057	HP:0000104	Renal agenesis
OMIM:249000	WDPCP	51057	HP:0002023	Anal atresia
OMIM:249000	WDPCP	51057	HP:0000028	Cryptorchidism
OMIM:249000	WDPCP	51057	HP:0000238	Hydrocephalus
OMIM:249000	WDPCP	51057	HP:0001643	Patent ductus arteriosus
OMIM:249000	WDPCP	51057	HP:0002323	Anencephaly
OMIM:249000	WDPCP	51057	HP:0001159	Syndactyly
OMIM:249000	WDPCP	51057	HP:0000470	Short neck
OMIM:249000	WDPCP	51057	HP:0001600	Abnormality of the larynx
OMIM:249000	WDPCP	51057	HP:0001321	Cerebellar hypoplasia
OMIM:249000	WDPCP	51057	HP:0000316	Hypertelorism
OMIM:249000	WDPCP	51057	HP:0002308	Arnold-Chiari malformation
OMIM:249000	WDPCP	51057	HP:0001829	Foot polydactyly
OMIM:249000	WDPCP	51057	HP:0006267	Large placenta
OMIM:249000	WDPCP	51057	HP:0000069	Abnormality of the ureter
OMIM:249000	WDPCP	51057	HP:0000835	Adrenal hypoplasia
OMIM:249000	WDPCP	51057	HP:0001562	Oligohydramnios
OMIM:249000	WDPCP	51057	HP:0001883	Talipes
OMIM:249000	WDPCP	51057	HP:0000175	Cleft palate
OMIM:249000	WDPCP	51057	HP:0000568	Microphthalmia
OMIM:249000	WDPCP	51057	HP:0000204	Cleft upper lip
OMIM:249000	WDPCP	51057	HP:0000154	Wide mouth
OMIM:249000	MKS1	54903	HP:0003241	External genital hypoplasia
OMIM:249000	MKS1	54903	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	MKS1	54903	HP:0002089	Pulmonary hypoplasia
OMIM:249000	MKS1	54903	HP:0001274	Agenesis of corpus callosum
OMIM:249000	MKS1	54903	HP:0000130	Abnormality of the uterus
OMIM:249000	MKS1	54903	HP:0001511	Intrauterine growth retardation
OMIM:249000	MKS1	54903	HP:0001408	Bile duct proliferation
OMIM:249000	MKS1	54903	HP:0002085	Occipital encephalocele
OMIM:249000	MKS1	54903	HP:0009466	Radial deviation of finger
OMIM:249000	MKS1	54903	HP:0000340	Sloping forehead
OMIM:249000	MKS1	54903	HP:0001680	Coarctation of aorta
OMIM:249000	MKS1	54903	HP:0006872	Cerebral hypoplasia
OMIM:249000	MKS1	54903	HP:0000347	Micrognathia
OMIM:249000	MKS1	54903	HP:0001162	Postaxial hand polydactyly
OMIM:249000	MKS1	54903	HP:0001305	Dandy-Walker malformation
OMIM:249000	MKS1	54903	HP:0001539	Omphalocele
OMIM:249000	MKS1	54903	HP:0000612	Iris coloboma
OMIM:249000	MKS1	54903	HP:0000007	Autosomal recessive inheritance
OMIM:249000	MKS1	54903	HP:0006487	Bowing of the long bones
OMIM:249000	MKS1	54903	HP:0000252	Microcephaly
OMIM:249000	MKS1	54903	HP:0000695	Natal tooth
OMIM:249000	MKS1	54903	HP:0000369	Low-set ears
OMIM:249000	MKS1	54903	HP:0000601	Hypotelorism
OMIM:249000	MKS1	54903	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	MKS1	54903	HP:0001744	Splenomegaly
OMIM:249000	MKS1	54903	HP:0002566	Intestinal malrotation
OMIM:249000	MKS1	54903	HP:0030084	Clinodactyly
OMIM:249000	MKS1	54903	HP:0000465	Webbed neck
OMIM:249000	MKS1	54903	HP:0000104	Renal agenesis
OMIM:249000	MKS1	54903	HP:0002023	Anal atresia
OMIM:249000	MKS1	54903	HP:0000028	Cryptorchidism
OMIM:249000	MKS1	54903	HP:0000238	Hydrocephalus
OMIM:249000	MKS1	54903	HP:0001643	Patent ductus arteriosus
OMIM:249000	MKS1	54903	HP:0002323	Anencephaly
OMIM:249000	MKS1	54903	HP:0001159	Syndactyly
OMIM:249000	MKS1	54903	HP:0000470	Short neck
OMIM:249000	MKS1	54903	HP:0001600	Abnormality of the larynx
OMIM:249000	MKS1	54903	HP:0001321	Cerebellar hypoplasia
OMIM:249000	MKS1	54903	HP:0000316	Hypertelorism
OMIM:249000	MKS1	54903	HP:0002308	Arnold-Chiari malformation
OMIM:249000	MKS1	54903	HP:0001829	Foot polydactyly
OMIM:249000	MKS1	54903	HP:0006267	Large placenta
OMIM:249000	MKS1	54903	HP:0000069	Abnormality of the ureter
OMIM:249000	MKS1	54903	HP:0000835	Adrenal hypoplasia
OMIM:249000	MKS1	54903	HP:0001562	Oligohydramnios
OMIM:249000	MKS1	54903	HP:0001883	Talipes
OMIM:249000	MKS1	54903	HP:0000175	Cleft palate
OMIM:249000	MKS1	54903	HP:0000568	Microphthalmia
OMIM:249000	MKS1	54903	HP:0000204	Cleft upper lip
OMIM:249000	MKS1	54903	HP:0000154	Wide mouth
OMIM:249000	CEP290	80184	HP:0003241	External genital hypoplasia
OMIM:249000	CEP290	80184	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	CEP290	80184	HP:0002089	Pulmonary hypoplasia
OMIM:249000	CEP290	80184	HP:0001274	Agenesis of corpus callosum
OMIM:249000	CEP290	80184	HP:0000130	Abnormality of the uterus
OMIM:249000	CEP290	80184	HP:0001511	Intrauterine growth retardation
OMIM:249000	CEP290	80184	HP:0001408	Bile duct proliferation
OMIM:249000	CEP290	80184	HP:0002085	Occipital encephalocele
OMIM:249000	CEP290	80184	HP:0009466	Radial deviation of finger
OMIM:249000	CEP290	80184	HP:0000340	Sloping forehead
OMIM:249000	CEP290	80184	HP:0001680	Coarctation of aorta
OMIM:249000	CEP290	80184	HP:0006872	Cerebral hypoplasia
OMIM:249000	CEP290	80184	HP:0000347	Micrognathia
OMIM:249000	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:249000	CEP290	80184	HP:0001305	Dandy-Walker malformation
OMIM:249000	CEP290	80184	HP:0001539	Omphalocele
OMIM:249000	CEP290	80184	HP:0000612	Iris coloboma
OMIM:249000	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:249000	CEP290	80184	HP:0006487	Bowing of the long bones
OMIM:249000	CEP290	80184	HP:0000252	Microcephaly
OMIM:249000	CEP290	80184	HP:0000695	Natal tooth
OMIM:249000	CEP290	80184	HP:0000369	Low-set ears
OMIM:249000	CEP290	80184	HP:0000601	Hypotelorism
OMIM:249000	CEP290	80184	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	CEP290	80184	HP:0001744	Splenomegaly
OMIM:249000	CEP290	80184	HP:0002566	Intestinal malrotation
OMIM:249000	CEP290	80184	HP:0030084	Clinodactyly
OMIM:249000	CEP290	80184	HP:0000465	Webbed neck
OMIM:249000	CEP290	80184	HP:0000104	Renal agenesis
OMIM:249000	CEP290	80184	HP:0002023	Anal atresia
OMIM:249000	CEP290	80184	HP:0000028	Cryptorchidism
OMIM:249000	CEP290	80184	HP:0000238	Hydrocephalus
OMIM:249000	CEP290	80184	HP:0001643	Patent ductus arteriosus
OMIM:249000	CEP290	80184	HP:0002323	Anencephaly
OMIM:249000	CEP290	80184	HP:0001159	Syndactyly
OMIM:249000	CEP290	80184	HP:0000470	Short neck
OMIM:249000	CEP290	80184	HP:0001600	Abnormality of the larynx
OMIM:249000	CEP290	80184	HP:0001321	Cerebellar hypoplasia
OMIM:249000	CEP290	80184	HP:0000316	Hypertelorism
OMIM:249000	CEP290	80184	HP:0002308	Arnold-Chiari malformation
OMIM:249000	CEP290	80184	HP:0001829	Foot polydactyly
OMIM:249000	CEP290	80184	HP:0006267	Large placenta
OMIM:249000	CEP290	80184	HP:0000069	Abnormality of the ureter
OMIM:249000	CEP290	80184	HP:0000835	Adrenal hypoplasia
OMIM:249000	CEP290	80184	HP:0001562	Oligohydramnios
OMIM:249000	CEP290	80184	HP:0001883	Talipes
OMIM:249000	CEP290	80184	HP:0000175	Cleft palate
OMIM:249000	CEP290	80184	HP:0000568	Microphthalmia
OMIM:249000	CEP290	80184	HP:0000204	Cleft upper lip
OMIM:249000	CEP290	80184	HP:0000154	Wide mouth
OMIM:249000	RPGRIP1L	23322	HP:0003241	External genital hypoplasia
OMIM:249000	RPGRIP1L	23322	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	RPGRIP1L	23322	HP:0002089	Pulmonary hypoplasia
OMIM:249000	RPGRIP1L	23322	HP:0001274	Agenesis of corpus callosum
OMIM:249000	RPGRIP1L	23322	HP:0000130	Abnormality of the uterus
OMIM:249000	RPGRIP1L	23322	HP:0001511	Intrauterine growth retardation
OMIM:249000	RPGRIP1L	23322	HP:0001408	Bile duct proliferation
OMIM:249000	RPGRIP1L	23322	HP:0002085	Occipital encephalocele
OMIM:249000	RPGRIP1L	23322	HP:0009466	Radial deviation of finger
OMIM:249000	RPGRIP1L	23322	HP:0000340	Sloping forehead
OMIM:249000	RPGRIP1L	23322	HP:0001680	Coarctation of aorta
OMIM:249000	RPGRIP1L	23322	HP:0006872	Cerebral hypoplasia
OMIM:249000	RPGRIP1L	23322	HP:0000347	Micrognathia
OMIM:249000	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
OMIM:249000	RPGRIP1L	23322	HP:0001305	Dandy-Walker malformation
OMIM:249000	RPGRIP1L	23322	HP:0001539	Omphalocele
OMIM:249000	RPGRIP1L	23322	HP:0000612	Iris coloboma
OMIM:249000	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:249000	RPGRIP1L	23322	HP:0006487	Bowing of the long bones
OMIM:249000	RPGRIP1L	23322	HP:0000252	Microcephaly
OMIM:249000	RPGRIP1L	23322	HP:0000695	Natal tooth
OMIM:249000	RPGRIP1L	23322	HP:0000369	Low-set ears
OMIM:249000	RPGRIP1L	23322	HP:0000601	Hypotelorism
OMIM:249000	RPGRIP1L	23322	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	RPGRIP1L	23322	HP:0001744	Splenomegaly
OMIM:249000	RPGRIP1L	23322	HP:0002566	Intestinal malrotation
OMIM:249000	RPGRIP1L	23322	HP:0030084	Clinodactyly
OMIM:249000	RPGRIP1L	23322	HP:0000465	Webbed neck
OMIM:249000	RPGRIP1L	23322	HP:0000104	Renal agenesis
OMIM:249000	RPGRIP1L	23322	HP:0002023	Anal atresia
OMIM:249000	RPGRIP1L	23322	HP:0000028	Cryptorchidism
OMIM:249000	RPGRIP1L	23322	HP:0000238	Hydrocephalus
OMIM:249000	RPGRIP1L	23322	HP:0001643	Patent ductus arteriosus
OMIM:249000	RPGRIP1L	23322	HP:0002323	Anencephaly
OMIM:249000	RPGRIP1L	23322	HP:0001159	Syndactyly
OMIM:249000	RPGRIP1L	23322	HP:0000470	Short neck
OMIM:249000	RPGRIP1L	23322	HP:0001600	Abnormality of the larynx
OMIM:249000	RPGRIP1L	23322	HP:0001321	Cerebellar hypoplasia
OMIM:249000	RPGRIP1L	23322	HP:0000316	Hypertelorism
OMIM:249000	RPGRIP1L	23322	HP:0002308	Arnold-Chiari malformation
OMIM:249000	RPGRIP1L	23322	HP:0001829	Foot polydactyly
OMIM:249000	RPGRIP1L	23322	HP:0006267	Large placenta
OMIM:249000	RPGRIP1L	23322	HP:0000069	Abnormality of the ureter
OMIM:249000	RPGRIP1L	23322	HP:0000835	Adrenal hypoplasia
OMIM:249000	RPGRIP1L	23322	HP:0001562	Oligohydramnios
OMIM:249000	RPGRIP1L	23322	HP:0001883	Talipes
OMIM:249000	RPGRIP1L	23322	HP:0000175	Cleft palate
OMIM:249000	RPGRIP1L	23322	HP:0000568	Microphthalmia
OMIM:249000	RPGRIP1L	23322	HP:0000204	Cleft upper lip
OMIM:249000	RPGRIP1L	23322	HP:0000154	Wide mouth
OMIM:249000	TCTN2	79867	HP:0003241	External genital hypoplasia
OMIM:249000	TCTN2	79867	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	TCTN2	79867	HP:0002089	Pulmonary hypoplasia
OMIM:249000	TCTN2	79867	HP:0001274	Agenesis of corpus callosum
OMIM:249000	TCTN2	79867	HP:0000130	Abnormality of the uterus
OMIM:249000	TCTN2	79867	HP:0001511	Intrauterine growth retardation
OMIM:249000	TCTN2	79867	HP:0001408	Bile duct proliferation
OMIM:249000	TCTN2	79867	HP:0002085	Occipital encephalocele
OMIM:249000	TCTN2	79867	HP:0009466	Radial deviation of finger
OMIM:249000	TCTN2	79867	HP:0000340	Sloping forehead
OMIM:249000	TCTN2	79867	HP:0001680	Coarctation of aorta
OMIM:249000	TCTN2	79867	HP:0006872	Cerebral hypoplasia
OMIM:249000	TCTN2	79867	HP:0000347	Micrognathia
OMIM:249000	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
OMIM:249000	TCTN2	79867	HP:0001305	Dandy-Walker malformation
OMIM:249000	TCTN2	79867	HP:0001539	Omphalocele
OMIM:249000	TCTN2	79867	HP:0000612	Iris coloboma
OMIM:249000	TCTN2	79867	HP:0000007	Autosomal recessive inheritance
OMIM:249000	TCTN2	79867	HP:0006487	Bowing of the long bones
OMIM:249000	TCTN2	79867	HP:0000252	Microcephaly
OMIM:249000	TCTN2	79867	HP:0000695	Natal tooth
OMIM:249000	TCTN2	79867	HP:0000369	Low-set ears
OMIM:249000	TCTN2	79867	HP:0000601	Hypotelorism
OMIM:249000	TCTN2	79867	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	TCTN2	79867	HP:0001744	Splenomegaly
OMIM:249000	TCTN2	79867	HP:0002566	Intestinal malrotation
OMIM:249000	TCTN2	79867	HP:0030084	Clinodactyly
OMIM:249000	TCTN2	79867	HP:0000465	Webbed neck
OMIM:249000	TCTN2	79867	HP:0000104	Renal agenesis
OMIM:249000	TCTN2	79867	HP:0002023	Anal atresia
OMIM:249000	TCTN2	79867	HP:0000028	Cryptorchidism
OMIM:249000	TCTN2	79867	HP:0000238	Hydrocephalus
OMIM:249000	TCTN2	79867	HP:0001643	Patent ductus arteriosus
OMIM:249000	TCTN2	79867	HP:0002323	Anencephaly
OMIM:249000	TCTN2	79867	HP:0001159	Syndactyly
OMIM:249000	TCTN2	79867	HP:0000470	Short neck
OMIM:249000	TCTN2	79867	HP:0001600	Abnormality of the larynx
OMIM:249000	TCTN2	79867	HP:0001321	Cerebellar hypoplasia
OMIM:249000	TCTN2	79867	HP:0000316	Hypertelorism
OMIM:249000	TCTN2	79867	HP:0002308	Arnold-Chiari malformation
OMIM:249000	TCTN2	79867	HP:0001829	Foot polydactyly
OMIM:249000	TCTN2	79867	HP:0006267	Large placenta
OMIM:249000	TCTN2	79867	HP:0000069	Abnormality of the ureter
OMIM:249000	TCTN2	79867	HP:0000835	Adrenal hypoplasia
OMIM:249000	TCTN2	79867	HP:0001562	Oligohydramnios
OMIM:249000	TCTN2	79867	HP:0001883	Talipes
OMIM:249000	TCTN2	79867	HP:0000175	Cleft palate
OMIM:249000	TCTN2	79867	HP:0000568	Microphthalmia
OMIM:249000	TCTN2	79867	HP:0000204	Cleft upper lip
OMIM:249000	TCTN2	79867	HP:0000154	Wide mouth
OMIM:249000	TMEM216	51259	HP:0003241	External genital hypoplasia
OMIM:249000	TMEM216	51259	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	TMEM216	51259	HP:0002089	Pulmonary hypoplasia
OMIM:249000	TMEM216	51259	HP:0001274	Agenesis of corpus callosum
OMIM:249000	TMEM216	51259	HP:0000130	Abnormality of the uterus
OMIM:249000	TMEM216	51259	HP:0001511	Intrauterine growth retardation
OMIM:249000	TMEM216	51259	HP:0001408	Bile duct proliferation
OMIM:249000	TMEM216	51259	HP:0002085	Occipital encephalocele
OMIM:249000	TMEM216	51259	HP:0009466	Radial deviation of finger
OMIM:249000	TMEM216	51259	HP:0000340	Sloping forehead
OMIM:249000	TMEM216	51259	HP:0001680	Coarctation of aorta
OMIM:249000	TMEM216	51259	HP:0006872	Cerebral hypoplasia
OMIM:249000	TMEM216	51259	HP:0000347	Micrognathia
OMIM:249000	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:249000	TMEM216	51259	HP:0001305	Dandy-Walker malformation
OMIM:249000	TMEM216	51259	HP:0001539	Omphalocele
OMIM:249000	TMEM216	51259	HP:0000612	Iris coloboma
OMIM:249000	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:249000	TMEM216	51259	HP:0006487	Bowing of the long bones
OMIM:249000	TMEM216	51259	HP:0000252	Microcephaly
OMIM:249000	TMEM216	51259	HP:0000695	Natal tooth
OMIM:249000	TMEM216	51259	HP:0000369	Low-set ears
OMIM:249000	TMEM216	51259	HP:0000601	Hypotelorism
OMIM:249000	TMEM216	51259	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	TMEM216	51259	HP:0001744	Splenomegaly
OMIM:249000	TMEM216	51259	HP:0002566	Intestinal malrotation
OMIM:249000	TMEM216	51259	HP:0030084	Clinodactyly
OMIM:249000	TMEM216	51259	HP:0000465	Webbed neck
OMIM:249000	TMEM216	51259	HP:0000104	Renal agenesis
OMIM:249000	TMEM216	51259	HP:0002023	Anal atresia
OMIM:249000	TMEM216	51259	HP:0000028	Cryptorchidism
OMIM:249000	TMEM216	51259	HP:0000238	Hydrocephalus
OMIM:249000	TMEM216	51259	HP:0001643	Patent ductus arteriosus
OMIM:249000	TMEM216	51259	HP:0002323	Anencephaly
OMIM:249000	TMEM216	51259	HP:0001159	Syndactyly
OMIM:249000	TMEM216	51259	HP:0000470	Short neck
OMIM:249000	TMEM216	51259	HP:0001600	Abnormality of the larynx
OMIM:249000	TMEM216	51259	HP:0001321	Cerebellar hypoplasia
OMIM:249000	TMEM216	51259	HP:0000316	Hypertelorism
OMIM:249000	TMEM216	51259	HP:0002308	Arnold-Chiari malformation
OMIM:249000	TMEM216	51259	HP:0001829	Foot polydactyly
OMIM:249000	TMEM216	51259	HP:0006267	Large placenta
OMIM:249000	TMEM216	51259	HP:0000069	Abnormality of the ureter
OMIM:249000	TMEM216	51259	HP:0000835	Adrenal hypoplasia
OMIM:249000	TMEM216	51259	HP:0001562	Oligohydramnios
OMIM:249000	TMEM216	51259	HP:0001883	Talipes
OMIM:249000	TMEM216	51259	HP:0000175	Cleft palate
OMIM:249000	TMEM216	51259	HP:0000568	Microphthalmia
OMIM:249000	TMEM216	51259	HP:0000204	Cleft upper lip
OMIM:249000	TMEM216	51259	HP:0000154	Wide mouth
OMIM:249000	TMEM231	79583	HP:0003241	External genital hypoplasia
OMIM:249000	TMEM231	79583	HP:0000113	Polycystic kidney dysplasia
OMIM:249000	TMEM231	79583	HP:0002089	Pulmonary hypoplasia
OMIM:249000	TMEM231	79583	HP:0001274	Agenesis of corpus callosum
OMIM:249000	TMEM231	79583	HP:0000130	Abnormality of the uterus
OMIM:249000	TMEM231	79583	HP:0001511	Intrauterine growth retardation
OMIM:249000	TMEM231	79583	HP:0001408	Bile duct proliferation
OMIM:249000	TMEM231	79583	HP:0002085	Occipital encephalocele
OMIM:249000	TMEM231	79583	HP:0009466	Radial deviation of finger
OMIM:249000	TMEM231	79583	HP:0000340	Sloping forehead
OMIM:249000	TMEM231	79583	HP:0001680	Coarctation of aorta
OMIM:249000	TMEM231	79583	HP:0006872	Cerebral hypoplasia
OMIM:249000	TMEM231	79583	HP:0000347	Micrognathia
OMIM:249000	TMEM231	79583	HP:0001162	Postaxial hand polydactyly
OMIM:249000	TMEM231	79583	HP:0001305	Dandy-Walker malformation
OMIM:249000	TMEM231	79583	HP:0001539	Omphalocele
OMIM:249000	TMEM231	79583	HP:0000612	Iris coloboma
OMIM:249000	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:249000	TMEM231	79583	HP:0006487	Bowing of the long bones
OMIM:249000	TMEM231	79583	HP:0000252	Microcephaly
OMIM:249000	TMEM231	79583	HP:0000695	Natal tooth
OMIM:249000	TMEM231	79583	HP:0000369	Low-set ears
OMIM:249000	TMEM231	79583	HP:0000601	Hypotelorism
OMIM:249000	TMEM231	79583	HP:0001671	Abnormality of the cardiac septa
OMIM:249000	TMEM231	79583	HP:0001744	Splenomegaly
OMIM:249000	TMEM231	79583	HP:0002566	Intestinal malrotation
OMIM:249000	TMEM231	79583	HP:0030084	Clinodactyly
OMIM:249000	TMEM231	79583	HP:0000465	Webbed neck
OMIM:249000	TMEM231	79583	HP:0000104	Renal agenesis
OMIM:249000	TMEM231	79583	HP:0002023	Anal atresia
OMIM:249000	TMEM231	79583	HP:0000028	Cryptorchidism
OMIM:249000	TMEM231	79583	HP:0000238	Hydrocephalus
OMIM:249000	TMEM231	79583	HP:0001643	Patent ductus arteriosus
OMIM:249000	TMEM231	79583	HP:0002323	Anencephaly
OMIM:249000	TMEM231	79583	HP:0001159	Syndactyly
OMIM:249000	TMEM231	79583	HP:0000470	Short neck
OMIM:249000	TMEM231	79583	HP:0001600	Abnormality of the larynx
OMIM:249000	TMEM231	79583	HP:0001321	Cerebellar hypoplasia
OMIM:249000	TMEM231	79583	HP:0000316	Hypertelorism
OMIM:249000	TMEM231	79583	HP:0002308	Arnold-Chiari malformation
OMIM:249000	TMEM231	79583	HP:0001829	Foot polydactyly
OMIM:249000	TMEM231	79583	HP:0006267	Large placenta
OMIM:249000	TMEM231	79583	HP:0000069	Abnormality of the ureter
OMIM:249000	TMEM231	79583	HP:0000835	Adrenal hypoplasia
OMIM:249000	TMEM231	79583	HP:0001562	Oligohydramnios
OMIM:249000	TMEM231	79583	HP:0001883	Talipes
OMIM:249000	TMEM231	79583	HP:0000175	Cleft palate
OMIM:249000	TMEM231	79583	HP:0000568	Microphthalmia
OMIM:249000	TMEM231	79583	HP:0000204	Cleft upper lip
OMIM:249000	TMEM231	79583	HP:0000154	Wide mouth
OMIM:177735	NR3C2	4306	HP:0001508	Failure to thrive
OMIM:177735	NR3C2	4306	HP:0002014	Diarrhea
OMIM:177735	NR3C2	4306	HP:0003593	Infantile onset
OMIM:177735	NR3C2	4306	HP:0001944	Dehydration
OMIM:177735	NR3C2	4306	HP:0000006	Autosomal dominant inheritance
OMIM:177735	NR3C2	4306	HP:0011968	Feeding difficulties
OMIM:177735	NR3C2	4306	HP:0001942	Metabolic acidosis
OMIM:177735	NR3C2	4306	HP:0002013	Vomiting
OMIM:177735	NR3C2	4306	HP:0003812	Phenotypic variability
OMIM:177735	NR3C2	4306	HP:0002153	Hyperkalemia
OMIM:177735	NR3C2	4306	HP:0008242	Pseudohypoaldosteronism
OMIM:601869	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:601869	MSRB3	253827	HP:0011463	Childhood onset
OMIM:601869	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:601869	BSND	7809	HP:0000365	Hearing impairment
OMIM:601869	BSND	7809	HP:0011463	Childhood onset
OMIM:601869	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:601869	ESPN	83715	HP:0000365	Hearing impairment
OMIM:601869	ESPN	83715	HP:0011463	Childhood onset
OMIM:601869	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:601869	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:601869	DFNB31	25861	HP:0011463	Childhood onset
OMIM:601869	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:601869	OTOA	146183	HP:0000365	Hearing impairment
OMIM:601869	OTOA	146183	HP:0011463	Childhood onset
OMIM:601869	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:601869	GJA1	2697	HP:0000365	Hearing impairment
OMIM:601869	GJA1	2697	HP:0011463	Childhood onset
OMIM:601869	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:601869	MET	4233	HP:0000365	Hearing impairment
OMIM:601869	MET	4233	HP:0011463	Childhood onset
OMIM:601869	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:601869	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:601869	CLDN14	23562	HP:0011463	Childhood onset
OMIM:601869	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:601869	HGF	3082	HP:0000365	Hearing impairment
OMIM:601869	HGF	3082	HP:0011463	Childhood onset
OMIM:601869	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:601869	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:601869	PNPT1	87178	HP:0011463	Childhood onset
OMIM:601869	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:601869	EPS8	2059	HP:0000365	Hearing impairment
OMIM:601869	EPS8	2059	HP:0011463	Childhood onset
OMIM:601869	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:601869	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:601869	MYO3A	53904	HP:0011463	Childhood onset
OMIM:601869	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:601869	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:601869	DCDC2	51473	HP:0011463	Childhood onset
OMIM:601869	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:601869	GJB2	2706	HP:0000365	Hearing impairment
OMIM:601869	GJB2	2706	HP:0011463	Childhood onset
OMIM:601869	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:601869	GJB3	2707	HP:0000365	Hearing impairment
OMIM:601869	GJB3	2707	HP:0011463	Childhood onset
OMIM:601869	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:601869	CABP2	51475	HP:0000365	Hearing impairment
OMIM:601869	CABP2	51475	HP:0011463	Childhood onset
OMIM:601869	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:601869	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:601869	GRXCR2	643226	HP:0011463	Childhood onset
OMIM:601869	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:601869	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:601869	SERPINB6	5269	HP:0011463	Childhood onset
OMIM:601869	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:601869	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:601869	COL11A2	1302	HP:0011463	Childhood onset
OMIM:601869	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:601869	CIB2	10518	HP:0000365	Hearing impairment
OMIM:601869	CIB2	10518	HP:0011463	Childhood onset
OMIM:601869	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:601869	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:601869	FAM65B	9750	HP:0011463	Childhood onset
OMIM:601869	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:601869	KARS	3735	HP:0000365	Hearing impairment
OMIM:601869	KARS	3735	HP:0011463	Childhood onset
OMIM:601869	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:601869	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:601869	LOXHD1	125336	HP:0011463	Childhood onset
OMIM:601869	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:601869	TMC1	117531	HP:0000365	Hearing impairment
OMIM:601869	TMC1	117531	HP:0011463	Childhood onset
OMIM:601869	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:601869	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:601869	CLIC5	53405	HP:0011463	Childhood onset
OMIM:601869	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:601869	OTOF	9381	HP:0000365	Hearing impairment
OMIM:601869	OTOF	9381	HP:0011463	Childhood onset
OMIM:601869	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:601869	MYO6	4646	HP:0000365	Hearing impairment
OMIM:601869	MYO6	4646	HP:0011463	Childhood onset
OMIM:601869	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:601869	TMIE	259236	HP:0000365	Hearing impairment
OMIM:601869	TMIE	259236	HP:0011463	Childhood onset
OMIM:601869	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:601869	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:601869	MYO7A	4647	HP:0011463	Childhood onset
OMIM:601869	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:601869	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:601869	LRTOMT	220074	HP:0011463	Childhood onset
OMIM:601869	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:601869	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:601869	OTOGL	283310	HP:0011463	Childhood onset
OMIM:601869	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:601869	TPRN	286262	HP:0000365	Hearing impairment
OMIM:601869	TPRN	286262	HP:0011463	Childhood onset
OMIM:601869	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:601869	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:601869	SLC26A4	5172	HP:0011463	Childhood onset
OMIM:601869	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:601869	GJB6	10804	HP:0000365	Hearing impairment
OMIM:601869	GJB6	10804	HP:0011463	Childhood onset
OMIM:601869	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:601869	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:601869	DFNB59	494513	HP:0011463	Childhood onset
OMIM:601869	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:601869	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:601869	ESRRB	2103	HP:0011463	Childhood onset
OMIM:601869	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:601869	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:601869	TMPRSS3	64699	HP:0011463	Childhood onset
OMIM:601869	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:601869	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:601869	PTPRQ	374462	HP:0011463	Childhood onset
OMIM:601869	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:601869	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:601869	SLC26A5	375611	HP:0011463	Childhood onset
OMIM:601869	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:601869	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:601869	PCDH15	65217	HP:0011463	Childhood onset
OMIM:601869	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:601869	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:601869	TSPEAR	54084	HP:0011463	Childhood onset
OMIM:601869	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:601869	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:601869	LHFPL5	222662	HP:0011463	Childhood onset
OMIM:601869	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:601869	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:601869	TRIOBP	11078	HP:0011463	Childhood onset
OMIM:601869	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:601869	CDH23	64072	HP:0000365	Hearing impairment
OMIM:601869	CDH23	64072	HP:0011463	Childhood onset
OMIM:601869	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:601869	RDX	5962	HP:0000365	Hearing impairment
OMIM:601869	RDX	5962	HP:0011463	Childhood onset
OMIM:601869	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:601869	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:601869	GPSM2	29899	HP:0011463	Childhood onset
OMIM:601869	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:601869	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:601869	ELMOD3	84173	HP:0011463	Childhood onset
OMIM:601869	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:601869	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:601869	ILDR1	286676	HP:0011463	Childhood onset
OMIM:601869	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:601869	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:601869	GRXCR1	389207	HP:0011463	Childhood onset
OMIM:601869	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:601869	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:601869	MARVELD2	153562	HP:0011463	Childhood onset
OMIM:601869	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:601869	STRC	161497	HP:0000365	Hearing impairment
OMIM:601869	STRC	161497	HP:0011463	Childhood onset
OMIM:601869	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:601869	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:601869	SLITRK6	84189	HP:0011463	Childhood onset
OMIM:601869	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:601869	TECTA	7007	HP:0000365	Hearing impairment
OMIM:601869	TECTA	7007	HP:0011463	Childhood onset
OMIM:601869	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:601869	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:601869	MYO15A	51168	HP:0011463	Childhood onset
OMIM:601869	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:601869	USH1C	10083	HP:0000365	Hearing impairment
OMIM:601869	USH1C	10083	HP:0011463	Childhood onset
OMIM:601869	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:601869	ADCY1	107	HP:0000365	Hearing impairment
OMIM:601869	ADCY1	107	HP:0011463	Childhood onset
OMIM:601869	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:601869	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:601869	SYNE4	163183	HP:0011463	Childhood onset
OMIM:601869	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:601869	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:601869	GIPC3	126326	HP:0011463	Childhood onset
OMIM:601869	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:601869	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:601869	TBC1D24	57465	HP:0011463	Childhood onset
OMIM:601869	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:601869	OTOG	340990	HP:0000365	Hearing impairment
OMIM:601869	OTOG	340990	HP:0011463	Childhood onset
OMIM:601869	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:600652	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:600652	DIAPH1	1729	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:600652	CEACAM16	388551	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:600652	SLC17A8	246213	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:600652	TJP2	9414	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:600652	ACTG1	71	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:600652	CCDC50	152137	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:600652	MIR96	407053	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:600652	GJB2	2706	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:600652	POU4F3	5459	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:600652	GJB3	2707	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:600652	MYH9	4627	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:600652	CRYM	1428	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:600652	COL11A2	1302	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:600652	EYA4	2070	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:600652	DFNA5	1687	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:600652	DIAPH3	81624	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:600652	TMC1	117531	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:600652	COCH	1690	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:600652	OSBPL2	9885	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:600652	SIX1	6495	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:600652	TECTA	7007	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:600652	MYO1A	4640	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:600652	MYO1C	4641	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:600652	MYO6	4646	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:600652	MYO7A	4647	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:600652	GRHL2	79977	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:600652	DIABLO	56616	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:600652	MYH14	79784	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:600652	P2RX2	22953	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:600652	WFS1	7466	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:600652	TNC	3371	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:600652	KCNQ4	9132	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:600652	HOMER2	9455	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:600652	GJB6	10804	HP:0000408	Progressive sensorineural hearing impairment
OMIM:600652	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:600652	TBC1D24	57465	HP:0000408	Progressive sensorineural hearing impairment
OMIM:268130	TINF2	26277	HP:0001263	Global developmental delay
OMIM:268130	TINF2	26277	HP:0001903	Anemia
OMIM:268130	TINF2	26277	HP:0000541	Retinal detachment
OMIM:268130	TINF2	26277	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:268130	TINF2	26277	HP:0011362	Abnormal hair quantity
OMIM:268130	TINF2	26277	HP:0003745	Sporadic
OMIM:268130	TINF2	26277	HP:0001511	Intrauterine growth retardation
OMIM:268130	TINF2	26277	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:268130	TINF2	26277	HP:0000006	Autosomal dominant inheritance
OMIM:268130	TINF2	26277	HP:0001276	Hypertonia
OMIM:268130	TINF2	26277	HP:0008404	Nail dystrophy
OMIM:268130	TINF2	26277	HP:0002514	Cerebral calcification
OMIM:268130	TINF2	26277	HP:0001321	Cerebellar hypoplasia
OMIM:268130	TINF2	26277	HP:0008070	Sparse hair
OMIM:268130	TINF2	26277	HP:0000252	Microcephaly
OMIM:268130	TINF2	26277	HP:0001915	Aplastic anemia
OMIM:268130	TINF2	26277	HP:0001874	Abnormality of neutrophils
OMIM:268130	TINF2	26277	HP:0001597	Abnormality of the nail
OMIM:268130	TINF2	26277	HP:0001622	Premature birth
OMIM:268130	TINF2	26277	HP:0008046	Abnormality of the retinal vasculature
OMIM:268130	TINF2	26277	HP:0000485	Megalocornea
OMIM:268130	TINF2	26277	HP:0001933	Subcutaneous hemorrhage
OMIM:268130	TINF2	26277	HP:0001873	Thrombocytopenia
OMIM:268130	TINF2	26277	HP:0002213	Fine hair
OMIM:268130	TINF2	26277	HP:0000163	Abnormality of the oral cavity
OMIM:268130	TINF2	26277	HP:0002344	Progressive neurologic deterioration
OMIM:268130	TINF2	26277	HP:0000639	Nystagmus
OMIM:268130	TINF2	26277	HP:0005528	Bone marrow hypocellularity
OMIM:268130	TINF2	26277	HP:0001251	Ataxia
OMIM:300615	MAOA	4128	HP:0000717	Autism
OMIM:300615	MAOA	4128	HP:0001270	Motor delay
OMIM:300615	MAOA	4128	HP:0100543	Cognitive impairment
OMIM:300615	MAOA	4128	HP:0000708	Behavioral abnormality
OMIM:613426	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:613426	TPM1	7168	HP:0001635	Congestive heart failure
OMIM:613426	TPM1	7168	HP:0001647	Bicuspid aortic valve
OMIM:613426	TPM1	7168	HP:0004308	Ventricular arrhythmia
OMIM:613426	TPM1	7168	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	TPM1	7168	HP:0005180	Tricuspid regurgitation
OMIM:613426	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:613426	TPM1	7168	HP:0001680	Coarctation of aorta
OMIM:613426	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:613426	CRYAB	1410	HP:0001635	Congestive heart failure
OMIM:613426	CRYAB	1410	HP:0001647	Bicuspid aortic valve
OMIM:613426	CRYAB	1410	HP:0004308	Ventricular arrhythmia
OMIM:613426	CRYAB	1410	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	CRYAB	1410	HP:0005180	Tricuspid regurgitation
OMIM:613426	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:613426	CRYAB	1410	HP:0001680	Coarctation of aorta
OMIM:613426	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:613426	ACTC1	70	HP:0001635	Congestive heart failure
OMIM:613426	ACTC1	70	HP:0001647	Bicuspid aortic valve
OMIM:613426	ACTC1	70	HP:0004308	Ventricular arrhythmia
OMIM:613426	ACTC1	70	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	ACTC1	70	HP:0005180	Tricuspid regurgitation
OMIM:613426	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:613426	ACTC1	70	HP:0001680	Coarctation of aorta
OMIM:613426	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:613426	RAF1	5894	HP:0001635	Congestive heart failure
OMIM:613426	RAF1	5894	HP:0001647	Bicuspid aortic valve
OMIM:613426	RAF1	5894	HP:0004308	Ventricular arrhythmia
OMIM:613426	RAF1	5894	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	RAF1	5894	HP:0005180	Tricuspid regurgitation
OMIM:613426	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:613426	RAF1	5894	HP:0001680	Coarctation of aorta
OMIM:613426	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:613426	GATAD1	57798	HP:0001635	Congestive heart failure
OMIM:613426	GATAD1	57798	HP:0001647	Bicuspid aortic valve
OMIM:613426	GATAD1	57798	HP:0004308	Ventricular arrhythmia
OMIM:613426	GATAD1	57798	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	GATAD1	57798	HP:0005180	Tricuspid regurgitation
OMIM:613426	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:613426	GATAD1	57798	HP:0001680	Coarctation of aorta
OMIM:613426	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:613426	LAMA4	3910	HP:0001635	Congestive heart failure
OMIM:613426	LAMA4	3910	HP:0001647	Bicuspid aortic valve
OMIM:613426	LAMA4	3910	HP:0004308	Ventricular arrhythmia
OMIM:613426	LAMA4	3910	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	LAMA4	3910	HP:0005180	Tricuspid regurgitation
OMIM:613426	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:613426	LAMA4	3910	HP:0001680	Coarctation of aorta
OMIM:613426	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:613426	TMPO	7112	HP:0001635	Congestive heart failure
OMIM:613426	TMPO	7112	HP:0001647	Bicuspid aortic valve
OMIM:613426	TMPO	7112	HP:0004308	Ventricular arrhythmia
OMIM:613426	TMPO	7112	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	TMPO	7112	HP:0005180	Tricuspid regurgitation
OMIM:613426	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:613426	TMPO	7112	HP:0001680	Coarctation of aorta
OMIM:613426	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:613426	DES	1674	HP:0001635	Congestive heart failure
OMIM:613426	DES	1674	HP:0001647	Bicuspid aortic valve
OMIM:613426	DES	1674	HP:0004308	Ventricular arrhythmia
OMIM:613426	DES	1674	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	DES	1674	HP:0005180	Tricuspid regurgitation
OMIM:613426	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:613426	DES	1674	HP:0001680	Coarctation of aorta
OMIM:613426	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:613426	ABCC9	10060	HP:0001635	Congestive heart failure
OMIM:613426	ABCC9	10060	HP:0001647	Bicuspid aortic valve
OMIM:613426	ABCC9	10060	HP:0004308	Ventricular arrhythmia
OMIM:613426	ABCC9	10060	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	ABCC9	10060	HP:0005180	Tricuspid regurgitation
OMIM:613426	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:613426	ABCC9	10060	HP:0001680	Coarctation of aorta
OMIM:613426	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:613426	MYH6	4624	HP:0001635	Congestive heart failure
OMIM:613426	MYH6	4624	HP:0001647	Bicuspid aortic valve
OMIM:613426	MYH6	4624	HP:0004308	Ventricular arrhythmia
OMIM:613426	MYH6	4624	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	MYH6	4624	HP:0005180	Tricuspid regurgitation
OMIM:613426	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:613426	MYH6	4624	HP:0001680	Coarctation of aorta
OMIM:613426	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:613426	MYH7	4625	HP:0001635	Congestive heart failure
OMIM:613426	MYH7	4625	HP:0001647	Bicuspid aortic valve
OMIM:613426	MYH7	4625	HP:0004308	Ventricular arrhythmia
OMIM:613426	MYH7	4625	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	MYH7	4625	HP:0005180	Tricuspid regurgitation
OMIM:613426	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:613426	MYH7	4625	HP:0001680	Coarctation of aorta
OMIM:613426	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:613426	LDB3	11155	HP:0001635	Congestive heart failure
OMIM:613426	LDB3	11155	HP:0001647	Bicuspid aortic valve
OMIM:613426	LDB3	11155	HP:0004308	Ventricular arrhythmia
OMIM:613426	LDB3	11155	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	LDB3	11155	HP:0005180	Tricuspid regurgitation
OMIM:613426	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:613426	LDB3	11155	HP:0001680	Coarctation of aorta
OMIM:613426	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:613426	ACTN2	88	HP:0001635	Congestive heart failure
OMIM:613426	ACTN2	88	HP:0001647	Bicuspid aortic valve
OMIM:613426	ACTN2	88	HP:0004308	Ventricular arrhythmia
OMIM:613426	ACTN2	88	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	ACTN2	88	HP:0005180	Tricuspid regurgitation
OMIM:613426	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:613426	ACTN2	88	HP:0001680	Coarctation of aorta
OMIM:613426	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:613426	TXNRD2	10587	HP:0001635	Congestive heart failure
OMIM:613426	TXNRD2	10587	HP:0001647	Bicuspid aortic valve
OMIM:613426	TXNRD2	10587	HP:0004308	Ventricular arrhythmia
OMIM:613426	TXNRD2	10587	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	TXNRD2	10587	HP:0005180	Tricuspid regurgitation
OMIM:613426	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:613426	TXNRD2	10587	HP:0001680	Coarctation of aorta
OMIM:613426	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:613426	DMD	1756	HP:0001635	Congestive heart failure
OMIM:613426	DMD	1756	HP:0001647	Bicuspid aortic valve
OMIM:613426	DMD	1756	HP:0004308	Ventricular arrhythmia
OMIM:613426	DMD	1756	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	DMD	1756	HP:0005180	Tricuspid regurgitation
OMIM:613426	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:613426	DMD	1756	HP:0001680	Coarctation of aorta
OMIM:613426	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:613426	TNNC1	7134	HP:0001635	Congestive heart failure
OMIM:613426	TNNC1	7134	HP:0001647	Bicuspid aortic valve
OMIM:613426	TNNC1	7134	HP:0004308	Ventricular arrhythmia
OMIM:613426	TNNC1	7134	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	TNNC1	7134	HP:0005180	Tricuspid regurgitation
OMIM:613426	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:613426	TNNC1	7134	HP:0001680	Coarctation of aorta
OMIM:613426	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:613426	PSEN1	5663	HP:0001635	Congestive heart failure
OMIM:613426	PSEN1	5663	HP:0001647	Bicuspid aortic valve
OMIM:613426	PSEN1	5663	HP:0004308	Ventricular arrhythmia
OMIM:613426	PSEN1	5663	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	PSEN1	5663	HP:0005180	Tricuspid regurgitation
OMIM:613426	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:613426	PSEN1	5663	HP:0001680	Coarctation of aorta
OMIM:613426	LMNA	4000	HP:0000006	Autosomal dominant inheritance
OMIM:613426	LMNA	4000	HP:0001635	Congestive heart failure
OMIM:613426	LMNA	4000	HP:0001647	Bicuspid aortic valve
OMIM:613426	LMNA	4000	HP:0004308	Ventricular arrhythmia
OMIM:613426	LMNA	4000	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	LMNA	4000	HP:0005180	Tricuspid regurgitation
OMIM:613426	LMNA	4000	HP:0001644	Dilated cardiomyopathy
OMIM:613426	LMNA	4000	HP:0001680	Coarctation of aorta
OMIM:613426	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:613426	PSEN2	5664	HP:0001635	Congestive heart failure
OMIM:613426	PSEN2	5664	HP:0001647	Bicuspid aortic valve
OMIM:613426	PSEN2	5664	HP:0004308	Ventricular arrhythmia
OMIM:613426	PSEN2	5664	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	PSEN2	5664	HP:0005180	Tricuspid regurgitation
OMIM:613426	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:613426	PSEN2	5664	HP:0001680	Coarctation of aorta
OMIM:613426	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:613426	TNNI3	7137	HP:0001635	Congestive heart failure
OMIM:613426	TNNI3	7137	HP:0001647	Bicuspid aortic valve
OMIM:613426	TNNI3	7137	HP:0004308	Ventricular arrhythmia
OMIM:613426	TNNI3	7137	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	TNNI3	7137	HP:0005180	Tricuspid regurgitation
OMIM:613426	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:613426	TNNI3	7137	HP:0001680	Coarctation of aorta
OMIM:613426	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:613426	FHL2	2274	HP:0001635	Congestive heart failure
OMIM:613426	FHL2	2274	HP:0001647	Bicuspid aortic valve
OMIM:613426	FHL2	2274	HP:0004308	Ventricular arrhythmia
OMIM:613426	FHL2	2274	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	FHL2	2274	HP:0005180	Tricuspid regurgitation
OMIM:613426	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:613426	FHL2	2274	HP:0001680	Coarctation of aorta
OMIM:613426	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:613426	TNNT2	7139	HP:0001635	Congestive heart failure
OMIM:613426	TNNT2	7139	HP:0001647	Bicuspid aortic valve
OMIM:613426	TNNT2	7139	HP:0004308	Ventricular arrhythmia
OMIM:613426	TNNT2	7139	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	TNNT2	7139	HP:0005180	Tricuspid regurgitation
OMIM:613426	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:613426	TNNT2	7139	HP:0001680	Coarctation of aorta
OMIM:613426	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:613426	DSG2	1829	HP:0001635	Congestive heart failure
OMIM:613426	DSG2	1829	HP:0001647	Bicuspid aortic valve
OMIM:613426	DSG2	1829	HP:0004308	Ventricular arrhythmia
OMIM:613426	DSG2	1829	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	DSG2	1829	HP:0005180	Tricuspid regurgitation
OMIM:613426	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:613426	DSG2	1829	HP:0001680	Coarctation of aorta
OMIM:613426	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:613426	PLN	5350	HP:0001635	Congestive heart failure
OMIM:613426	PLN	5350	HP:0001647	Bicuspid aortic valve
OMIM:613426	PLN	5350	HP:0004308	Ventricular arrhythmia
OMIM:613426	PLN	5350	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	PLN	5350	HP:0005180	Tricuspid regurgitation
OMIM:613426	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:613426	PLN	5350	HP:0001680	Coarctation of aorta
OMIM:613426	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:613426	PRDM16	63976	HP:0001635	Congestive heart failure
OMIM:613426	PRDM16	63976	HP:0001647	Bicuspid aortic valve
OMIM:613426	PRDM16	63976	HP:0004308	Ventricular arrhythmia
OMIM:613426	PRDM16	63976	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	PRDM16	63976	HP:0005180	Tricuspid regurgitation
OMIM:613426	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:613426	PRDM16	63976	HP:0001680	Coarctation of aorta
OMIM:613426	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:613426	TTN	7273	HP:0001635	Congestive heart failure
OMIM:613426	TTN	7273	HP:0001647	Bicuspid aortic valve
OMIM:613426	TTN	7273	HP:0004308	Ventricular arrhythmia
OMIM:613426	TTN	7273	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	TTN	7273	HP:0005180	Tricuspid regurgitation
OMIM:613426	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:613426	TTN	7273	HP:0001680	Coarctation of aorta
OMIM:613426	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:613426	NEXN	91624	HP:0001635	Congestive heart failure
OMIM:613426	NEXN	91624	HP:0001647	Bicuspid aortic valve
OMIM:613426	NEXN	91624	HP:0004308	Ventricular arrhythmia
OMIM:613426	NEXN	91624	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	NEXN	91624	HP:0005180	Tricuspid regurgitation
OMIM:613426	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:613426	NEXN	91624	HP:0001680	Coarctation of aorta
OMIM:613426	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:613426	FKTN	2218	HP:0001635	Congestive heart failure
OMIM:613426	FKTN	2218	HP:0001647	Bicuspid aortic valve
OMIM:613426	FKTN	2218	HP:0004308	Ventricular arrhythmia
OMIM:613426	FKTN	2218	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	FKTN	2218	HP:0005180	Tricuspid regurgitation
OMIM:613426	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:613426	FKTN	2218	HP:0001680	Coarctation of aorta
OMIM:613426	MYH7B	57644	HP:0000006	Autosomal dominant inheritance
OMIM:613426	MYH7B	57644	HP:0001635	Congestive heart failure
OMIM:613426	MYH7B	57644	HP:0001647	Bicuspid aortic valve
OMIM:613426	MYH7B	57644	HP:0004308	Ventricular arrhythmia
OMIM:613426	MYH7B	57644	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	MYH7B	57644	HP:0005180	Tricuspid regurgitation
OMIM:613426	MYH7B	57644	HP:0001644	Dilated cardiomyopathy
OMIM:613426	MYH7B	57644	HP:0001680	Coarctation of aorta
OMIM:613426	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:613426	SGCD	6444	HP:0001635	Congestive heart failure
OMIM:613426	SGCD	6444	HP:0001647	Bicuspid aortic valve
OMIM:613426	SGCD	6444	HP:0004308	Ventricular arrhythmia
OMIM:613426	SGCD	6444	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	SGCD	6444	HP:0005180	Tricuspid regurgitation
OMIM:613426	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:613426	SGCD	6444	HP:0001680	Coarctation of aorta
OMIM:613426	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:613426	DTNA	1837	HP:0001635	Congestive heart failure
OMIM:613426	DTNA	1837	HP:0001647	Bicuspid aortic valve
OMIM:613426	DTNA	1837	HP:0004308	Ventricular arrhythmia
OMIM:613426	DTNA	1837	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	DTNA	1837	HP:0005180	Tricuspid regurgitation
OMIM:613426	DTNA	1837	HP:0001644	Dilated cardiomyopathy
OMIM:613426	DTNA	1837	HP:0001680	Coarctation of aorta
OMIM:613426	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:613426	TCAP	8557	HP:0001635	Congestive heart failure
OMIM:613426	TCAP	8557	HP:0001647	Bicuspid aortic valve
OMIM:613426	TCAP	8557	HP:0004308	Ventricular arrhythmia
OMIM:613426	TCAP	8557	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	TCAP	8557	HP:0005180	Tricuspid regurgitation
OMIM:613426	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:613426	TCAP	8557	HP:0001680	Coarctation of aorta
OMIM:613426	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:613426	CSRP3	8048	HP:0001635	Congestive heart failure
OMIM:613426	CSRP3	8048	HP:0001647	Bicuspid aortic valve
OMIM:613426	CSRP3	8048	HP:0004308	Ventricular arrhythmia
OMIM:613426	CSRP3	8048	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	CSRP3	8048	HP:0005180	Tricuspid regurgitation
OMIM:613426	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:613426	CSRP3	8048	HP:0001680	Coarctation of aorta
OMIM:613426	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:613426	RBM20	282996	HP:0001635	Congestive heart failure
OMIM:613426	RBM20	282996	HP:0001647	Bicuspid aortic valve
OMIM:613426	RBM20	282996	HP:0004308	Ventricular arrhythmia
OMIM:613426	RBM20	282996	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	RBM20	282996	HP:0005180	Tricuspid regurgitation
OMIM:613426	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:613426	RBM20	282996	HP:0001680	Coarctation of aorta
OMIM:613426	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:613426	TAZ	6901	HP:0001635	Congestive heart failure
OMIM:613426	TAZ	6901	HP:0001647	Bicuspid aortic valve
OMIM:613426	TAZ	6901	HP:0004308	Ventricular arrhythmia
OMIM:613426	TAZ	6901	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	TAZ	6901	HP:0005180	Tricuspid regurgitation
OMIM:613426	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:613426	TAZ	6901	HP:0001680	Coarctation of aorta
OMIM:613426	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:613426	SDHA	6389	HP:0001635	Congestive heart failure
OMIM:613426	SDHA	6389	HP:0001647	Bicuspid aortic valve
OMIM:613426	SDHA	6389	HP:0004308	Ventricular arrhythmia
OMIM:613426	SDHA	6389	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	SDHA	6389	HP:0005180	Tricuspid regurgitation
OMIM:613426	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:613426	SDHA	6389	HP:0001680	Coarctation of aorta
OMIM:613426	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:613426	VCL	7414	HP:0001635	Congestive heart failure
OMIM:613426	VCL	7414	HP:0001647	Bicuspid aortic valve
OMIM:613426	VCL	7414	HP:0004308	Ventricular arrhythmia
OMIM:613426	VCL	7414	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	VCL	7414	HP:0005180	Tricuspid regurgitation
OMIM:613426	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:613426	VCL	7414	HP:0001680	Coarctation of aorta
OMIM:613426	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:613426	MYPN	84665	HP:0001635	Congestive heart failure
OMIM:613426	MYPN	84665	HP:0001647	Bicuspid aortic valve
OMIM:613426	MYPN	84665	HP:0004308	Ventricular arrhythmia
OMIM:613426	MYPN	84665	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	MYPN	84665	HP:0005180	Tricuspid regurgitation
OMIM:613426	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:613426	MYPN	84665	HP:0001680	Coarctation of aorta
OMIM:613426	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613426	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:613426	SCN5A	6331	HP:0001647	Bicuspid aortic valve
OMIM:613426	SCN5A	6331	HP:0004308	Ventricular arrhythmia
OMIM:613426	SCN5A	6331	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	SCN5A	6331	HP:0005180	Tricuspid regurgitation
OMIM:613426	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:613426	SCN5A	6331	HP:0001680	Coarctation of aorta
OMIM:613426	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:613426	BAG3	9531	HP:0001635	Congestive heart failure
OMIM:613426	BAG3	9531	HP:0001647	Bicuspid aortic valve
OMIM:613426	BAG3	9531	HP:0004308	Ventricular arrhythmia
OMIM:613426	BAG3	9531	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	BAG3	9531	HP:0005180	Tricuspid regurgitation
OMIM:613426	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:613426	BAG3	9531	HP:0001680	Coarctation of aorta
OMIM:613426	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:613426	DOLK	22845	HP:0001635	Congestive heart failure
OMIM:613426	DOLK	22845	HP:0001647	Bicuspid aortic valve
OMIM:613426	DOLK	22845	HP:0004308	Ventricular arrhythmia
OMIM:613426	DOLK	22845	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	DOLK	22845	HP:0005180	Tricuspid regurgitation
OMIM:613426	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:613426	DOLK	22845	HP:0001680	Coarctation of aorta
OMIM:613426	MIB1	57534	HP:0000006	Autosomal dominant inheritance
OMIM:613426	MIB1	57534	HP:0001635	Congestive heart failure
OMIM:613426	MIB1	57534	HP:0001647	Bicuspid aortic valve
OMIM:613426	MIB1	57534	HP:0004308	Ventricular arrhythmia
OMIM:613426	MIB1	57534	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	MIB1	57534	HP:0005180	Tricuspid regurgitation
OMIM:613426	MIB1	57534	HP:0001644	Dilated cardiomyopathy
OMIM:613426	MIB1	57534	HP:0001680	Coarctation of aorta
OMIM:613426	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:613426	MYBPC3	4607	HP:0001635	Congestive heart failure
OMIM:613426	MYBPC3	4607	HP:0001647	Bicuspid aortic valve
OMIM:613426	MYBPC3	4607	HP:0004308	Ventricular arrhythmia
OMIM:613426	MYBPC3	4607	HP:0004971	Pulmonary artery hypoplasia
OMIM:613426	MYBPC3	4607	HP:0005180	Tricuspid regurgitation
OMIM:613426	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:613426	MYBPC3	4607	HP:0001680	Coarctation of aorta
OMIM:603776	PCSK9	255738	HP:0003124	Hypercholesterolemia
OMIM:603776	PCSK9	255738	HP:0000006	Autosomal dominant inheritance
OMIM:615182	SLC25A1	6576	HP:0002240	Hepatomegaly
OMIM:615182	SLC25A1	6576	HP:0001298	Encephalopathy
OMIM:615182	SLC25A1	6576	HP:0011968	Feeding difficulties
OMIM:615182	SLC25A1	6576	HP:0000007	Autosomal recessive inheritance
OMIM:615182	SLC25A1	6576	HP:0002094	Dyspnea
OMIM:615182	SLC25A1	6576	HP:0012448	Delayed myelination
OMIM:615182	SLC25A1	6576	HP:0001321	Cerebellar hypoplasia
OMIM:615182	SLC25A1	6576	HP:0006829	Severe muscular hypotonia
OMIM:615182	SLC25A1	6576	HP:0001250	Seizures
OMIM:615182	SLC25A1	6576	HP:0100704	Cortical visual impairment
OMIM:615182	SLC25A1	6576	HP:0000252	Microcephaly
OMIM:615182	SLC25A1	6576	HP:0000737	Irritability
OMIM:615182	SLC25A1	6576	HP:0000256	Macrocephaly
OMIM:615182	SLC25A1	6576	HP:0002119	Ventriculomegaly
OMIM:615182	SLC25A1	6576	HP:0001263	Global developmental delay
OMIM:202700	GFI1	2672	HP:0001894	Thrombocytosis
OMIM:202700	GFI1	2672	HP:0001507	Growth abnormality
OMIM:202700	GFI1	2672	HP:0000006	Autosomal dominant inheritance
OMIM:202700	GFI1	2672	HP:0010702	Increased antibody level in blood
OMIM:202700	GFI1	2672	HP:0000007	Autosomal recessive inheritance
OMIM:202700	GFI1	2672	HP:0001875	Neutropenia
OMIM:202700	GFI1	2672	HP:0001880	Eosinophilia
OMIM:202700	GFI1	2672	HP:0002718	Recurrent bacterial infections
OMIM:202700	GFI1	2672	HP:0001903	Anemia
OMIM:202700	GFI1	2672	HP:0003593	Infantile onset
OMIM:202700	ELANE	1991	HP:0001894	Thrombocytosis
OMIM:202700	ELANE	1991	HP:0001507	Growth abnormality
OMIM:202700	ELANE	1991	HP:0000006	Autosomal dominant inheritance
OMIM:202700	ELANE	1991	HP:0010702	Increased antibody level in blood
OMIM:202700	ELANE	1991	HP:0000007	Autosomal recessive inheritance
OMIM:202700	ELANE	1991	HP:0001875	Neutropenia
OMIM:202700	ELANE	1991	HP:0001880	Eosinophilia
OMIM:202700	ELANE	1991	HP:0002718	Recurrent bacterial infections
OMIM:202700	ELANE	1991	HP:0001903	Anemia
OMIM:202700	ELANE	1991	HP:0003593	Infantile onset
OMIM:202700	TCIRG1	10312	HP:0001894	Thrombocytosis
OMIM:202700	TCIRG1	10312	HP:0001507	Growth abnormality
OMIM:202700	TCIRG1	10312	HP:0000006	Autosomal dominant inheritance
OMIM:202700	TCIRG1	10312	HP:0010702	Increased antibody level in blood
OMIM:202700	TCIRG1	10312	HP:0000007	Autosomal recessive inheritance
OMIM:202700	TCIRG1	10312	HP:0001875	Neutropenia
OMIM:202700	TCIRG1	10312	HP:0001880	Eosinophilia
OMIM:202700	TCIRG1	10312	HP:0002718	Recurrent bacterial infections
OMIM:202700	TCIRG1	10312	HP:0001903	Anemia
OMIM:202700	TCIRG1	10312	HP:0003593	Infantile onset
OMIM:615889	AARS2	57505	HP:0002186	Apraxia
OMIM:615889	AARS2	57505	HP:0001257	Spasticity
OMIM:615889	AARS2	57505	HP:0001260	Dysarthria
OMIM:615889	AARS2	57505	HP:0000639	Nystagmus
OMIM:615889	AARS2	57505	HP:0001332	Dystonia
OMIM:615889	AARS2	57505	HP:0001251	Ataxia
OMIM:615889	AARS2	57505	HP:0002180	Neurodegeneration
OMIM:615889	AARS2	57505	HP:0002371	Loss of speech
OMIM:615889	AARS2	57505	HP:0000726	Dementia
OMIM:615889	AARS2	57505	HP:0001272	Cerebellar atrophy
OMIM:615889	AARS2	57505	HP:0001337	Tremor
OMIM:616265	CHST8	64377	HP:0000007	Autosomal recessive inheritance
OMIM:174050	PRKCSH	5589	HP:0000113	Polycystic kidney dysplasia
OMIM:174050	PRKCSH	5589	HP:0002240	Hepatomegaly
OMIM:174050	PRKCSH	5589	HP:0002093	Respiratory insufficiency
OMIM:174050	PRKCSH	5589	HP:0000107	Renal cyst
OMIM:174050	PRKCSH	5589	HP:0002617	Aneurysm
OMIM:174050	PRKCSH	5589	HP:0003270	Abdominal distention
OMIM:174050	PRKCSH	5589	HP:0008872	Feeding difficulties in infancy
OMIM:174050	PRKCSH	5589	HP:0000707	Abnormality of the nervous system
OMIM:174050	PRKCSH	5589	HP:0001626	Abnormality of the cardiovascular system
OMIM:174050	PRKCSH	5589	HP:0001541	Ascites
OMIM:174050	PRKCSH	5589	HP:0001732	Abnormality of the pancreas
OMIM:174050	PRKCSH	5589	HP:0002239	Gastrointestinal hemorrhage
OMIM:174050	PRKCSH	5589	HP:0000006	Autosomal dominant inheritance
OMIM:174050	PRKCSH	5589	HP:0002027	Abdominal pain
OMIM:174050	LRP5	4041	HP:0000113	Polycystic kidney dysplasia
OMIM:174050	LRP5	4041	HP:0002240	Hepatomegaly
OMIM:174050	LRP5	4041	HP:0002093	Respiratory insufficiency
OMIM:174050	LRP5	4041	HP:0000107	Renal cyst
OMIM:174050	LRP5	4041	HP:0002617	Aneurysm
OMIM:174050	LRP5	4041	HP:0003270	Abdominal distention
OMIM:174050	LRP5	4041	HP:0008872	Feeding difficulties in infancy
OMIM:174050	LRP5	4041	HP:0000707	Abnormality of the nervous system
OMIM:174050	LRP5	4041	HP:0001626	Abnormality of the cardiovascular system
OMIM:174050	LRP5	4041	HP:0001541	Ascites
OMIM:174050	LRP5	4041	HP:0001732	Abnormality of the pancreas
OMIM:174050	LRP5	4041	HP:0002239	Gastrointestinal hemorrhage
OMIM:174050	LRP5	4041	HP:0000006	Autosomal dominant inheritance
OMIM:174050	LRP5	4041	HP:0002027	Abdominal pain
OMIM:174050	SEC63	11231	HP:0000113	Polycystic kidney dysplasia
OMIM:174050	SEC63	11231	HP:0002240	Hepatomegaly
OMIM:174050	SEC63	11231	HP:0002093	Respiratory insufficiency
OMIM:174050	SEC63	11231	HP:0000107	Renal cyst
OMIM:174050	SEC63	11231	HP:0002617	Aneurysm
OMIM:174050	SEC63	11231	HP:0003270	Abdominal distention
OMIM:174050	SEC63	11231	HP:0008872	Feeding difficulties in infancy
OMIM:174050	SEC63	11231	HP:0000707	Abnormality of the nervous system
OMIM:174050	SEC63	11231	HP:0001626	Abnormality of the cardiovascular system
OMIM:174050	SEC63	11231	HP:0001541	Ascites
OMIM:174050	SEC63	11231	HP:0001732	Abnormality of the pancreas
OMIM:174050	SEC63	11231	HP:0002239	Gastrointestinal hemorrhage
OMIM:174050	SEC63	11231	HP:0000006	Autosomal dominant inheritance
OMIM:174050	SEC63	11231	HP:0002027	Abdominal pain
OMIM:608594	FOS	2353	HP:0001176	Large hands
OMIM:608594	FOS	2353	HP:0000303	Mandibular prognathia
OMIM:608594	FOS	2353	HP:0000007	Autosomal recessive inheritance
OMIM:608594	FOS	2353	HP:0000147	Polycystic ovaries
OMIM:608594	FOS	2353	HP:0000057	Clitoromegaly
OMIM:608594	FOS	2353	HP:0000956	Acanthosis nigricans
OMIM:608594	FOS	2353	HP:0001394	Cirrhosis
OMIM:608594	FOS	2353	HP:0000842	Hyperinsulinemia
OMIM:608594	FOS	2353	HP:0005616	Accelerated skeletal maturation
OMIM:608594	FOS	2353	HP:0002240	Hepatomegaly
OMIM:608594	FOS	2353	HP:0001833	Long foot
OMIM:608594	FOS	2353	HP:0001744	Splenomegaly
OMIM:608594	FOS	2353	HP:0002155	Hypertriglyceridemia
OMIM:608594	FOS	2353	HP:0001537	Umbilical hernia
OMIM:608594	FOS	2353	HP:0009125	Lipodystrophy
OMIM:608594	FOS	2353	HP:0000098	Tall stature
OMIM:608594	FOS	2353	HP:0001007	Hirsutism
OMIM:608594	FOS	2353	HP:0001397	Hepatic steatosis
OMIM:608594	BSCL2	26580	HP:0001176	Large hands
OMIM:608594	BSCL2	26580	HP:0000303	Mandibular prognathia
OMIM:608594	BSCL2	26580	HP:0000007	Autosomal recessive inheritance
OMIM:608594	BSCL2	26580	HP:0000147	Polycystic ovaries
OMIM:608594	BSCL2	26580	HP:0000057	Clitoromegaly
OMIM:608594	BSCL2	26580	HP:0000956	Acanthosis nigricans
OMIM:608594	BSCL2	26580	HP:0001394	Cirrhosis
OMIM:608594	BSCL2	26580	HP:0000842	Hyperinsulinemia
OMIM:608594	BSCL2	26580	HP:0005616	Accelerated skeletal maturation
OMIM:608594	BSCL2	26580	HP:0002240	Hepatomegaly
OMIM:608594	BSCL2	26580	HP:0001833	Long foot
OMIM:608594	BSCL2	26580	HP:0001744	Splenomegaly
OMIM:608594	BSCL2	26580	HP:0002155	Hypertriglyceridemia
OMIM:608594	BSCL2	26580	HP:0001537	Umbilical hernia
OMIM:608594	BSCL2	26580	HP:0009125	Lipodystrophy
OMIM:608594	BSCL2	26580	HP:0000098	Tall stature
OMIM:608594	BSCL2	26580	HP:0001007	Hirsutism
OMIM:608594	BSCL2	26580	HP:0001397	Hepatic steatosis
OMIM:608594	CAV1	857	HP:0001176	Large hands
OMIM:608594	CAV1	857	HP:0000303	Mandibular prognathia
OMIM:608594	CAV1	857	HP:0000007	Autosomal recessive inheritance
OMIM:608594	CAV1	857	HP:0000147	Polycystic ovaries
OMIM:608594	CAV1	857	HP:0000057	Clitoromegaly
OMIM:608594	CAV1	857	HP:0000956	Acanthosis nigricans
OMIM:608594	CAV1	857	HP:0001394	Cirrhosis
OMIM:608594	CAV1	857	HP:0000842	Hyperinsulinemia
OMIM:608594	CAV1	857	HP:0005616	Accelerated skeletal maturation
OMIM:608594	CAV1	857	HP:0002240	Hepatomegaly
OMIM:608594	CAV1	857	HP:0001833	Long foot
OMIM:608594	CAV1	857	HP:0001744	Splenomegaly
OMIM:608594	CAV1	857	HP:0002155	Hypertriglyceridemia
OMIM:608594	CAV1	857	HP:0001537	Umbilical hernia
OMIM:608594	CAV1	857	HP:0009125	Lipodystrophy
OMIM:608594	CAV1	857	HP:0000098	Tall stature
OMIM:608594	CAV1	857	HP:0001007	Hirsutism
OMIM:608594	CAV1	857	HP:0001397	Hepatic steatosis
OMIM:608594	AGPAT2	10555	HP:0001176	Large hands
OMIM:608594	AGPAT2	10555	HP:0000303	Mandibular prognathia
OMIM:608594	AGPAT2	10555	HP:0000007	Autosomal recessive inheritance
OMIM:608594	AGPAT2	10555	HP:0000147	Polycystic ovaries
OMIM:608594	AGPAT2	10555	HP:0000057	Clitoromegaly
OMIM:608594	AGPAT2	10555	HP:0000956	Acanthosis nigricans
OMIM:608594	AGPAT2	10555	HP:0001394	Cirrhosis
OMIM:608594	AGPAT2	10555	HP:0000842	Hyperinsulinemia
OMIM:608594	AGPAT2	10555	HP:0005616	Accelerated skeletal maturation
OMIM:608594	AGPAT2	10555	HP:0002240	Hepatomegaly
OMIM:608594	AGPAT2	10555	HP:0001833	Long foot
OMIM:608594	AGPAT2	10555	HP:0001744	Splenomegaly
OMIM:608594	AGPAT2	10555	HP:0002155	Hypertriglyceridemia
OMIM:608594	AGPAT2	10555	HP:0001537	Umbilical hernia
OMIM:608594	AGPAT2	10555	HP:0009125	Lipodystrophy
OMIM:608594	AGPAT2	10555	HP:0000098	Tall stature
OMIM:608594	AGPAT2	10555	HP:0001007	Hirsutism
OMIM:608594	AGPAT2	10555	HP:0001397	Hepatic steatosis
OMIM:608594	PPARG	5468	HP:0001176	Large hands
OMIM:608594	PPARG	5468	HP:0000303	Mandibular prognathia
OMIM:608594	PPARG	5468	HP:0000007	Autosomal recessive inheritance
OMIM:608594	PPARG	5468	HP:0000147	Polycystic ovaries
OMIM:608594	PPARG	5468	HP:0000057	Clitoromegaly
OMIM:608594	PPARG	5468	HP:0000956	Acanthosis nigricans
OMIM:608594	PPARG	5468	HP:0001394	Cirrhosis
OMIM:608594	PPARG	5468	HP:0000842	Hyperinsulinemia
OMIM:608594	PPARG	5468	HP:0005616	Accelerated skeletal maturation
OMIM:608594	PPARG	5468	HP:0002240	Hepatomegaly
OMIM:608594	PPARG	5468	HP:0001833	Long foot
OMIM:608594	PPARG	5468	HP:0001744	Splenomegaly
OMIM:608594	PPARG	5468	HP:0002155	Hypertriglyceridemia
OMIM:608594	PPARG	5468	HP:0001537	Umbilical hernia
OMIM:608594	PPARG	5468	HP:0009125	Lipodystrophy
OMIM:608594	PPARG	5468	HP:0000098	Tall stature
OMIM:608594	PPARG	5468	HP:0001007	Hirsutism
OMIM:608594	PPARG	5468	HP:0001397	Hepatic steatosis
OMIM:616399	SCN10A	6336	HP:0001962	Palpitations
OMIM:616399	GPD1L	23171	HP:0001962	Palpitations
OMIM:616399	HCN4	10021	HP:0001962	Palpitations
OMIM:616399	CACNA1C	775	HP:0001962	Palpitations
OMIM:616399	KCND3	3752	HP:0001962	Palpitations
OMIM:616399	TRPM4	54795	HP:0001962	Palpitations
OMIM:616399	CACNA2D1	781	HP:0001962	Palpitations
OMIM:616399	CACNB2	783	HP:0001962	Palpitations
OMIM:616399	SCN1B	6324	HP:0001962	Palpitations
OMIM:616399	KCNJ8	3764	HP:0001962	Palpitations
OMIM:616399	KCNE3	10008	HP:0001962	Palpitations
OMIM:616399	SCN3B	55800	HP:0001962	Palpitations
OMIM:616399	SCN5A	6331	HP:0001962	Palpitations
OMIM:616399	SLMAP	7871	HP:0001962	Palpitations
ORPHANET:300865	TYK2	7297	HP:0002665	Lymphoma
ORPHANET:300865	TYK2	7297	HP:0001824	Weight loss
ORPHANET:300865	TYK2	7297	HP:0200042	Skin ulcer
ORPHANET:300865	TYK2	7297	HP:0000975	Hyperhidrosis
ORPHANET:300865	TYK2	7297	HP:0002716	Lymphadenopathy
ORPHANET:300865	TYK2	7297	HP:0000989	Pruritus
ORPHANET:300865	NPM1	4869	HP:0002665	Lymphoma
ORPHANET:300865	NPM1	4869	HP:0001824	Weight loss
ORPHANET:300865	NPM1	4869	HP:0200042	Skin ulcer
ORPHANET:300865	NPM1	4869	HP:0000975	Hyperhidrosis
ORPHANET:300865	NPM1	4869	HP:0002716	Lymphadenopathy
ORPHANET:300865	NPM1	4869	HP:0000989	Pruritus
ORPHANET:3449	ADAMTS10	81794	HP:0001156	Brachydactyly syndrome
ORPHANET:3449	ADAMTS10	81794	HP:0001646	Abnormality of the aortic valve
ORPHANET:3449	ADAMTS10	81794	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:3449	ADAMTS10	81794	HP:0000545	Myopia
ORPHANET:3449	ADAMTS10	81794	HP:0001376	Limitation of joint mobility
ORPHANET:3449	ADAMTS10	81794	HP:0000518	Cataract
ORPHANET:3449	ADAMTS10	81794	HP:0000505	Visual impairment
ORPHANET:3449	ADAMTS10	81794	HP:0001083	Ectopia lentis
ORPHANET:3449	ADAMTS10	81794	HP:0100543	Cognitive impairment
ORPHANET:3449	ADAMTS10	81794	HP:0008063	Aplasia/Hypoplasia of the lens
ORPHANET:3449	ADAMTS10	81794	HP:0001072	Thickened skin
ORPHANET:3449	ADAMTS10	81794	HP:0004322	Short stature
ORPHANET:3449	ADAMTS10	81794	HP:0001629	Ventricular septal defect
ORPHANET:3449	ADAMTS10	81794	HP:0000501	Glaucoma
ORPHANET:3449	ADAMTS10	81794	HP:0001633	Abnormality of the mitral valve
ORPHANET:3449	ADAMTS10	81794	HP:0001831	Short toe
ORPHANET:3449	LTBP2	4053	HP:0001156	Brachydactyly syndrome
ORPHANET:3449	LTBP2	4053	HP:0001646	Abnormality of the aortic valve
ORPHANET:3449	LTBP2	4053	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:3449	LTBP2	4053	HP:0000545	Myopia
ORPHANET:3449	LTBP2	4053	HP:0001376	Limitation of joint mobility
ORPHANET:3449	LTBP2	4053	HP:0000518	Cataract
ORPHANET:3449	LTBP2	4053	HP:0000505	Visual impairment
ORPHANET:3449	LTBP2	4053	HP:0001083	Ectopia lentis
ORPHANET:3449	LTBP2	4053	HP:0100543	Cognitive impairment
ORPHANET:3449	LTBP2	4053	HP:0008063	Aplasia/Hypoplasia of the lens
ORPHANET:3449	LTBP2	4053	HP:0001072	Thickened skin
ORPHANET:3449	LTBP2	4053	HP:0004322	Short stature
ORPHANET:3449	LTBP2	4053	HP:0001629	Ventricular septal defect
ORPHANET:3449	LTBP2	4053	HP:0000501	Glaucoma
ORPHANET:3449	LTBP2	4053	HP:0001633	Abnormality of the mitral valve
ORPHANET:3449	LTBP2	4053	HP:0001831	Short toe
ORPHANET:3449	FBN1	2200	HP:0001156	Brachydactyly syndrome
ORPHANET:3449	FBN1	2200	HP:0001646	Abnormality of the aortic valve
ORPHANET:3449	FBN1	2200	HP:0001641	Abnormality of the pulmonary valve
ORPHANET:3449	FBN1	2200	HP:0000545	Myopia
ORPHANET:3449	FBN1	2200	HP:0001376	Limitation of joint mobility
ORPHANET:3449	FBN1	2200	HP:0000518	Cataract
ORPHANET:3449	FBN1	2200	HP:0000505	Visual impairment
ORPHANET:3449	FBN1	2200	HP:0001083	Ectopia lentis
ORPHANET:3449	FBN1	2200	HP:0100543	Cognitive impairment
ORPHANET:3449	FBN1	2200	HP:0008063	Aplasia/Hypoplasia of the lens
ORPHANET:3449	FBN1	2200	HP:0001072	Thickened skin
ORPHANET:3449	FBN1	2200	HP:0004322	Short stature
ORPHANET:3449	FBN1	2200	HP:0001629	Ventricular septal defect
ORPHANET:3449	FBN1	2200	HP:0000501	Glaucoma
ORPHANET:3449	FBN1	2200	HP:0001633	Abnormality of the mitral valve
ORPHANET:3449	FBN1	2200	HP:0001831	Short toe
OMIM:601162	ALDH18A1	5832	HP:0002495	Impaired vibratory sensation
OMIM:601162	ALDH18A1	5832	HP:0001498	Carpal bone hypoplasia
OMIM:601162	ALDH18A1	5832	HP:0000639	Nystagmus
OMIM:601162	ALDH18A1	5832	HP:0002127	Abnormal upper motor neuron morphology
OMIM:601162	ALDH18A1	5832	HP:0004322	Short stature
OMIM:601162	ALDH18A1	5832	HP:0001761	Pes cavus
OMIM:601162	ALDH18A1	5832	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:601162	ALDH18A1	5832	HP:0000518	Cataract
OMIM:601162	ALDH18A1	5832	HP:0002020	Gastroesophageal reflux
OMIM:601162	ALDH18A1	5832	HP:0000020	Urinary incontinence
OMIM:601162	ALDH18A1	5832	HP:0002013	Vomiting
OMIM:601162	ALDH18A1	5832	HP:0007178	Motor polyneuropathy
OMIM:601162	ALDH18A1	5832	HP:0001258	Spastic paraplegia
OMIM:601162	ALDH18A1	5832	HP:0000012	Urinary urgency
OMIM:601162	ALDH18A1	5832	HP:0001260	Dysarthria
OMIM:601162	ALDH18A1	5832	HP:0001317	Abnormality of the cerebellum
OMIM:601162	ALDH18A1	5832	HP:0007340	Lower limb muscle weakness
OMIM:601162	ALDH18A1	5832	HP:0000006	Autosomal dominant inheritance
OMIM:601162	ALDH18A1	5832	HP:0001328	Specific learning disability
OMIM:601162	ALDH18A1	5832	HP:0001288	Gait disturbance
OMIM:601162	ALDH18A1	5832	HP:0002061	Lower limb spasticity
OMIM:601162	ALDH18A1	5832	HP:0003487	Babinski sign
OMIM:601162	ALDH18A1	5832	HP:0001347	Hyperreflexia
OMIM:601162	ALDH18A1	5832	HP:0002750	Delayed skeletal maturation
OMIM:611773	COL4A1	1282	HP:0000006	Autosomal dominant inheritance
OMIM:611773	COL4A1	1282	HP:0005115	Supraventricular arrhythmia
OMIM:611773	COL4A1	1282	HP:0000112	Nephropathy
OMIM:611773	COL4A1	1282	HP:0000790	Hematuria
OMIM:611773	COL4A1	1282	HP:0000107	Renal cyst
OMIM:611773	COL4A1	1282	HP:0000083	Renal insufficiency
OMIM:611773	COL4A1	1282	HP:0001297	Stroke
OMIM:611773	COL4A1	1282	HP:0002352	Leukoencephalopathy
OMIM:611773	COL4A1	1282	HP:0003394	Muscle cramps
OMIM:611773	COL4A1	1282	HP:0001136	Retinal arteriolar tortuosity
OMIM:147750	SALL4	57167	HP:0001873	Thrombocytopenia
OMIM:147750	SALL4	57167	HP:0000143	Rectovaginal fistula
OMIM:147750	SALL4	57167	HP:0001974	Leukocytosis
OMIM:147750	SALL4	57167	HP:0000486	Strabismus
OMIM:147750	SALL4	57167	HP:0000365	Hearing impairment
OMIM:147750	SALL4	57167	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:147750	SALL4	57167	HP:0002650	Scoliosis
OMIM:147750	SALL4	57167	HP:0006064	Limited interphalangeal movement
OMIM:147750	SALL4	57167	HP:0030241	Hypoplasia of deltoid muscle
OMIM:147750	SALL4	57167	HP:0002023	Anal atresia
OMIM:147750	SALL4	57167	HP:0009777	Absent thumb
OMIM:147750	SALL4	57167	HP:0008953	Pectoralis major hypoplasia
OMIM:147750	SALL4	57167	HP:0011675	Arrhythmia
OMIM:147750	SALL4	57167	HP:0100589	Urogenital fistula
OMIM:147750	SALL4	57167	HP:0001199	Triphalangeal thumb
OMIM:147750	SALL4	57167	HP:0000544	External ophthalmoplegia
OMIM:147750	SALL4	57167	HP:0003812	Phenotypic variability
OMIM:147750	SALL4	57167	HP:0004322	Short stature
OMIM:147750	SALL4	57167	HP:0005048	Synostosis of carpal bones
OMIM:147750	SALL4	57167	HP:0002974	Radioulnar synostosis
OMIM:147750	SALL4	57167	HP:0001376	Limitation of joint mobility
OMIM:147750	SALL4	57167	HP:0001245	Small thenar eminence
OMIM:147750	SALL4	57167	HP:0002984	Hypoplasia of the radius
OMIM:147750	SALL4	57167	HP:0002996	Limited elbow movement
OMIM:147750	SALL4	57167	HP:0010034	Short 1st metacarpal
OMIM:147750	SALL4	57167	HP:0000006	Autosomal dominant inheritance
OMIM:147750	SALL4	57167	HP:0001498	Carpal bone hypoplasia
OMIM:147750	SALL4	57167	HP:0001177	Preaxial hand polydactyly
OMIM:147750	SALL4	57167	HP:0009702	Carpal synostosis
OMIM:147750	SALL4	57167	HP:0002566	Intestinal malrotation
OMIM:147750	SALL4	57167	HP:0000889	Abnormality of the clavicle
OMIM:147750	SALL4	57167	HP:0006248	Limited wrist movement
OMIM:147750	SALL4	57167	HP:0007477	Abnormal dermatoglyphics
OMIM:614200	ITGA2	3673	HP:0000006	Autosomal dominant inheritance
OMIM:614200	ITGA2	3673	HP:0000978	Bruising susceptibility
OMIM:614200	ITGA2	3673	HP:0003577	Congenital onset
OMIM:614200	ITGA2	3673	HP:0001873	Thrombocytopenia
ORPHANET:1572	CD19	930	HP:0002091	Restrictive lung disease
ORPHANET:1572	CD19	930	HP:0002633	Vasculitis
ORPHANET:1572	CD19	930	HP:0000246	Sinusitis
ORPHANET:1572	CD19	930	HP:0001878	Hemolytic anemia
ORPHANET:1572	CD19	930	HP:0002829	Arthralgia
ORPHANET:1572	CD19	930	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	CD19	930	HP:0001744	Splenomegaly
ORPHANET:1572	CD19	930	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	CD19	930	HP:0002665	Lymphoma
ORPHANET:1572	CD19	930	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	CD19	930	HP:0002024	Malabsorption
ORPHANET:1572	CD19	930	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	CD19	930	HP:0000388	Otitis media
ORPHANET:1572	CD19	930	HP:0002097	Emphysema
ORPHANET:1572	CD19	930	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	CD19	930	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	CD19	930	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	CD19	930	HP:0002716	Lymphadenopathy
ORPHANET:1572	CD19	930	HP:0001873	Thrombocytopenia
ORPHANET:1572	TNFRSF13C	115650	HP:0002091	Restrictive lung disease
ORPHANET:1572	TNFRSF13C	115650	HP:0002633	Vasculitis
ORPHANET:1572	TNFRSF13C	115650	HP:0000246	Sinusitis
ORPHANET:1572	TNFRSF13C	115650	HP:0001878	Hemolytic anemia
ORPHANET:1572	TNFRSF13C	115650	HP:0002829	Arthralgia
ORPHANET:1572	TNFRSF13C	115650	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	TNFRSF13C	115650	HP:0001744	Splenomegaly
ORPHANET:1572	TNFRSF13C	115650	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	TNFRSF13C	115650	HP:0002665	Lymphoma
ORPHANET:1572	TNFRSF13C	115650	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	TNFRSF13C	115650	HP:0002024	Malabsorption
ORPHANET:1572	TNFRSF13C	115650	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	TNFRSF13C	115650	HP:0000388	Otitis media
ORPHANET:1572	TNFRSF13C	115650	HP:0002097	Emphysema
ORPHANET:1572	TNFRSF13C	115650	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	TNFRSF13C	115650	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	TNFRSF13C	115650	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	TNFRSF13C	115650	HP:0002716	Lymphadenopathy
ORPHANET:1572	TNFRSF13C	115650	HP:0001873	Thrombocytopenia
ORPHANET:1572	MS4A1	931	HP:0002091	Restrictive lung disease
ORPHANET:1572	MS4A1	931	HP:0002633	Vasculitis
ORPHANET:1572	MS4A1	931	HP:0000246	Sinusitis
ORPHANET:1572	MS4A1	931	HP:0001878	Hemolytic anemia
ORPHANET:1572	MS4A1	931	HP:0002829	Arthralgia
ORPHANET:1572	MS4A1	931	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	MS4A1	931	HP:0001744	Splenomegaly
ORPHANET:1572	MS4A1	931	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	MS4A1	931	HP:0002665	Lymphoma
ORPHANET:1572	MS4A1	931	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	MS4A1	931	HP:0002024	Malabsorption
ORPHANET:1572	MS4A1	931	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	MS4A1	931	HP:0000388	Otitis media
ORPHANET:1572	MS4A1	931	HP:0002097	Emphysema
ORPHANET:1572	MS4A1	931	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	MS4A1	931	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	MS4A1	931	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	MS4A1	931	HP:0002716	Lymphadenopathy
ORPHANET:1572	MS4A1	931	HP:0001873	Thrombocytopenia
ORPHANET:1572	CR2	1380	HP:0002091	Restrictive lung disease
ORPHANET:1572	CR2	1380	HP:0002633	Vasculitis
ORPHANET:1572	CR2	1380	HP:0000246	Sinusitis
ORPHANET:1572	CR2	1380	HP:0001878	Hemolytic anemia
ORPHANET:1572	CR2	1380	HP:0002829	Arthralgia
ORPHANET:1572	CR2	1380	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	CR2	1380	HP:0001744	Splenomegaly
ORPHANET:1572	CR2	1380	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	CR2	1380	HP:0002665	Lymphoma
ORPHANET:1572	CR2	1380	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	CR2	1380	HP:0002024	Malabsorption
ORPHANET:1572	CR2	1380	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	CR2	1380	HP:0000388	Otitis media
ORPHANET:1572	CR2	1380	HP:0002097	Emphysema
ORPHANET:1572	CR2	1380	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	CR2	1380	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	CR2	1380	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	CR2	1380	HP:0002716	Lymphadenopathy
ORPHANET:1572	CR2	1380	HP:0001873	Thrombocytopenia
ORPHANET:1572	TNFSF12	8742	HP:0002091	Restrictive lung disease
ORPHANET:1572	TNFSF12	8742	HP:0002633	Vasculitis
ORPHANET:1572	TNFSF12	8742	HP:0000246	Sinusitis
ORPHANET:1572	TNFSF12	8742	HP:0001878	Hemolytic anemia
ORPHANET:1572	TNFSF12	8742	HP:0002829	Arthralgia
ORPHANET:1572	TNFSF12	8742	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	TNFSF12	8742	HP:0001744	Splenomegaly
ORPHANET:1572	TNFSF12	8742	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	TNFSF12	8742	HP:0002665	Lymphoma
ORPHANET:1572	TNFSF12	8742	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	TNFSF12	8742	HP:0002024	Malabsorption
ORPHANET:1572	TNFSF12	8742	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	TNFSF12	8742	HP:0000388	Otitis media
ORPHANET:1572	TNFSF12	8742	HP:0002097	Emphysema
ORPHANET:1572	TNFSF12	8742	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	TNFSF12	8742	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	TNFSF12	8742	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	TNFSF12	8742	HP:0002716	Lymphadenopathy
ORPHANET:1572	TNFSF12	8742	HP:0001873	Thrombocytopenia
ORPHANET:1572	NFKB1	4790	HP:0002091	Restrictive lung disease
ORPHANET:1572	NFKB1	4790	HP:0002633	Vasculitis
ORPHANET:1572	NFKB1	4790	HP:0000246	Sinusitis
ORPHANET:1572	NFKB1	4790	HP:0001878	Hemolytic anemia
ORPHANET:1572	NFKB1	4790	HP:0002829	Arthralgia
ORPHANET:1572	NFKB1	4790	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	NFKB1	4790	HP:0001744	Splenomegaly
ORPHANET:1572	NFKB1	4790	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	NFKB1	4790	HP:0002665	Lymphoma
ORPHANET:1572	NFKB1	4790	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	NFKB1	4790	HP:0002024	Malabsorption
ORPHANET:1572	NFKB1	4790	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	NFKB1	4790	HP:0000388	Otitis media
ORPHANET:1572	NFKB1	4790	HP:0002097	Emphysema
ORPHANET:1572	NFKB1	4790	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	NFKB1	4790	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	NFKB1	4790	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	NFKB1	4790	HP:0002716	Lymphadenopathy
ORPHANET:1572	NFKB1	4790	HP:0001873	Thrombocytopenia
ORPHANET:1572	TNFRSF13B	23495	HP:0002091	Restrictive lung disease
ORPHANET:1572	TNFRSF13B	23495	HP:0002633	Vasculitis
ORPHANET:1572	TNFRSF13B	23495	HP:0000246	Sinusitis
ORPHANET:1572	TNFRSF13B	23495	HP:0001878	Hemolytic anemia
ORPHANET:1572	TNFRSF13B	23495	HP:0002829	Arthralgia
ORPHANET:1572	TNFRSF13B	23495	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	TNFRSF13B	23495	HP:0001744	Splenomegaly
ORPHANET:1572	TNFRSF13B	23495	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	TNFRSF13B	23495	HP:0002665	Lymphoma
ORPHANET:1572	TNFRSF13B	23495	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	TNFRSF13B	23495	HP:0002024	Malabsorption
ORPHANET:1572	TNFRSF13B	23495	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	TNFRSF13B	23495	HP:0000388	Otitis media
ORPHANET:1572	TNFRSF13B	23495	HP:0002097	Emphysema
ORPHANET:1572	TNFRSF13B	23495	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	TNFRSF13B	23495	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	TNFRSF13B	23495	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	TNFRSF13B	23495	HP:0002716	Lymphadenopathy
ORPHANET:1572	TNFRSF13B	23495	HP:0001873	Thrombocytopenia
ORPHANET:1572	NFKB2	4791	HP:0002091	Restrictive lung disease
ORPHANET:1572	NFKB2	4791	HP:0002633	Vasculitis
ORPHANET:1572	NFKB2	4791	HP:0000246	Sinusitis
ORPHANET:1572	NFKB2	4791	HP:0001878	Hemolytic anemia
ORPHANET:1572	NFKB2	4791	HP:0002829	Arthralgia
ORPHANET:1572	NFKB2	4791	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	NFKB2	4791	HP:0001744	Splenomegaly
ORPHANET:1572	NFKB2	4791	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	NFKB2	4791	HP:0002665	Lymphoma
ORPHANET:1572	NFKB2	4791	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	NFKB2	4791	HP:0002024	Malabsorption
ORPHANET:1572	NFKB2	4791	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	NFKB2	4791	HP:0000388	Otitis media
ORPHANET:1572	NFKB2	4791	HP:0002097	Emphysema
ORPHANET:1572	NFKB2	4791	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	NFKB2	4791	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	NFKB2	4791	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	NFKB2	4791	HP:0002716	Lymphadenopathy
ORPHANET:1572	NFKB2	4791	HP:0001873	Thrombocytopenia
ORPHANET:1572	ICOS	29851	HP:0002091	Restrictive lung disease
ORPHANET:1572	ICOS	29851	HP:0002633	Vasculitis
ORPHANET:1572	ICOS	29851	HP:0000246	Sinusitis
ORPHANET:1572	ICOS	29851	HP:0001878	Hemolytic anemia
ORPHANET:1572	ICOS	29851	HP:0002829	Arthralgia
ORPHANET:1572	ICOS	29851	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	ICOS	29851	HP:0001744	Splenomegaly
ORPHANET:1572	ICOS	29851	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	ICOS	29851	HP:0002665	Lymphoma
ORPHANET:1572	ICOS	29851	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	ICOS	29851	HP:0002024	Malabsorption
ORPHANET:1572	ICOS	29851	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	ICOS	29851	HP:0000388	Otitis media
ORPHANET:1572	ICOS	29851	HP:0002097	Emphysema
ORPHANET:1572	ICOS	29851	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	ICOS	29851	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	ICOS	29851	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	ICOS	29851	HP:0002716	Lymphadenopathy
ORPHANET:1572	ICOS	29851	HP:0001873	Thrombocytopenia
ORPHANET:1572	LRBA	987	HP:0002091	Restrictive lung disease
ORPHANET:1572	LRBA	987	HP:0002633	Vasculitis
ORPHANET:1572	LRBA	987	HP:0000246	Sinusitis
ORPHANET:1572	LRBA	987	HP:0001878	Hemolytic anemia
ORPHANET:1572	LRBA	987	HP:0002829	Arthralgia
ORPHANET:1572	LRBA	987	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	LRBA	987	HP:0001744	Splenomegaly
ORPHANET:1572	LRBA	987	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	LRBA	987	HP:0002665	Lymphoma
ORPHANET:1572	LRBA	987	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	LRBA	987	HP:0002024	Malabsorption
ORPHANET:1572	LRBA	987	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	LRBA	987	HP:0000388	Otitis media
ORPHANET:1572	LRBA	987	HP:0002097	Emphysema
ORPHANET:1572	LRBA	987	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	LRBA	987	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	LRBA	987	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	LRBA	987	HP:0002716	Lymphadenopathy
ORPHANET:1572	LRBA	987	HP:0001873	Thrombocytopenia
ORPHANET:1572	PRKCD	5580	HP:0002091	Restrictive lung disease
ORPHANET:1572	PRKCD	5580	HP:0002633	Vasculitis
ORPHANET:1572	PRKCD	5580	HP:0000246	Sinusitis
ORPHANET:1572	PRKCD	5580	HP:0001878	Hemolytic anemia
ORPHANET:1572	PRKCD	5580	HP:0002829	Arthralgia
ORPHANET:1572	PRKCD	5580	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	PRKCD	5580	HP:0001744	Splenomegaly
ORPHANET:1572	PRKCD	5580	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	PRKCD	5580	HP:0002665	Lymphoma
ORPHANET:1572	PRKCD	5580	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	PRKCD	5580	HP:0002024	Malabsorption
ORPHANET:1572	PRKCD	5580	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	PRKCD	5580	HP:0000388	Otitis media
ORPHANET:1572	PRKCD	5580	HP:0002097	Emphysema
ORPHANET:1572	PRKCD	5580	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	PRKCD	5580	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	PRKCD	5580	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	PRKCD	5580	HP:0002716	Lymphadenopathy
ORPHANET:1572	PRKCD	5580	HP:0001873	Thrombocytopenia
ORPHANET:1572	CD81	975	HP:0002091	Restrictive lung disease
ORPHANET:1572	CD81	975	HP:0002633	Vasculitis
ORPHANET:1572	CD81	975	HP:0000246	Sinusitis
ORPHANET:1572	CD81	975	HP:0001878	Hemolytic anemia
ORPHANET:1572	CD81	975	HP:0002829	Arthralgia
ORPHANET:1572	CD81	975	HP:0004313	Decreased antibody level in blood
ORPHANET:1572	CD81	975	HP:0001744	Splenomegaly
ORPHANET:1572	CD81	975	HP:0001933	Subcutaneous hemorrhage
ORPHANET:1572	CD81	975	HP:0002665	Lymphoma
ORPHANET:1572	CD81	975	HP:0002910	Elevated hepatic transaminases
ORPHANET:1572	CD81	975	HP:0002024	Malabsorption
ORPHANET:1572	CD81	975	HP:0006753	Neoplasm of the stomach
ORPHANET:1572	CD81	975	HP:0000388	Otitis media
ORPHANET:1572	CD81	975	HP:0002097	Emphysema
ORPHANET:1572	CD81	975	HP:0002109	Abnormality of the bronchi
ORPHANET:1572	CD81	975	HP:0002205	Recurrent respiratory infections
ORPHANET:1572	CD81	975	HP:0100723	Gastrointestinal stroma tumor
ORPHANET:1572	CD81	975	HP:0002716	Lymphadenopathy
ORPHANET:1572	CD81	975	HP:0001873	Thrombocytopenia
ORPHANET:79254	PAH	5053	HP:0001337	Tremor
ORPHANET:79254	PAH	5053	HP:0002514	Cerebral calcification
ORPHANET:79254	PAH	5053	HP:0002354	Memory impairment
ORPHANET:79254	PAH	5053	HP:0100679	Lack of skin elasticity
ORPHANET:79254	PAH	5053	HP:0100716	Self-injurious behavior
ORPHANET:79254	PAH	5053	HP:0000518	Cataract
ORPHANET:79254	PAH	5053	HP:0000252	Microcephaly
ORPHANET:79254	PAH	5053	HP:0001276	Hypertonia
ORPHANET:79254	PAH	5053	HP:0003355	Aminoaciduria
ORPHANET:79254	PAH	5053	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:79254	PAH	5053	HP:0005599	Hypopigmentation of hair
ORPHANET:79254	PAH	5053	HP:0002017	Nausea and vomiting
ORPHANET:79254	PAH	5053	HP:0011362	Abnormal hair quantity
ORPHANET:79254	PAH	5053	HP:0000717	Autism
ORPHANET:79254	PAH	5053	HP:0001250	Seizures
ORPHANET:79254	PAH	5053	HP:0001347	Hyperreflexia
ORPHANET:79254	PAH	5053	HP:0007018	Attention deficit hyperactivity disorder
ORPHANET:79254	PAH	5053	HP:0000964	Eczema
OMIM:613704	VSX2	338917	HP:0000568	Microphthalmia
OMIM:613704	SOX2	6657	HP:0000568	Microphthalmia
OMIM:613704	GDF3	9573	HP:0000568	Microphthalmia
OMIM:613704	OTX2	5015	HP:0000568	Microphthalmia
OMIM:613704	PRSS56	646960	HP:0000568	Microphthalmia
OMIM:613704	ALDH1A3	220	HP:0000568	Microphthalmia
OMIM:613704	SIX6	4990	HP:0000568	Microphthalmia
OMIM:613704	RAX	30062	HP:0000568	Microphthalmia
OMIM:613848	CREB3L1	90993	HP:0000341	Narrow forehead
OMIM:613848	CREB3L1	90993	HP:0000938	Osteopenia
OMIM:613848	CREB3L1	90993	HP:0001290	Generalized hypotonia
OMIM:613848	CREB3L1	90993	HP:0001620	High pitched voice
OMIM:613848	CREB3L1	90993	HP:0000926	Platyspondyly
OMIM:613848	CREB3L1	90993	HP:0001388	Joint laxity
OMIM:613848	CREB3L1	90993	HP:0000592	Blue sclerae
OMIM:613848	CREB3L1	90993	HP:0002983	Micromelia
OMIM:613848	CREB3L1	90993	HP:0002650	Scoliosis
OMIM:613848	CREB3L1	90993	HP:0000774	Narrow chest
OMIM:613848	CREB3L1	90993	HP:0000007	Autosomal recessive inheritance
OMIM:613848	CREB3L1	90993	HP:0000325	Triangular face
OMIM:613848	CREB3L1	90993	HP:0011800	Hypoplasia of midface
OMIM:613848	CREB3L1	90993	HP:0004482	Relative macrocephaly
OMIM:613848	CREB3L1	90993	HP:0000023	Inguinal hernia
OMIM:613848	CREB3L1	90993	HP:0004322	Short stature
OMIM:613848	CREB3L1	90993	HP:0000347	Micrognathia
OMIM:613848	CREB3L1	90993	HP:0000272	Malar flattening
OMIM:613848	CREB3L1	90993	HP:0000348	High forehead
OMIM:613848	CREB3L1	90993	HP:0000787	Nephrolithiasis
OMIM:613848	CREB3L1	90993	HP:0011220	Prominent forehead
OMIM:613848	CREB3L1	90993	HP:0002021	Pyloric stenosis
OMIM:613848	CREB3L1	90993	HP:0002857	Genu valgum
OMIM:613848	SERPINH1	871	HP:0000341	Narrow forehead
OMIM:613848	SERPINH1	871	HP:0000938	Osteopenia
OMIM:613848	SERPINH1	871	HP:0001290	Generalized hypotonia
OMIM:613848	SERPINH1	871	HP:0001620	High pitched voice
OMIM:613848	SERPINH1	871	HP:0000926	Platyspondyly
OMIM:613848	SERPINH1	871	HP:0001388	Joint laxity
OMIM:613848	SERPINH1	871	HP:0000592	Blue sclerae
OMIM:613848	SERPINH1	871	HP:0002983	Micromelia
OMIM:613848	SERPINH1	871	HP:0002650	Scoliosis
OMIM:613848	SERPINH1	871	HP:0000774	Narrow chest
OMIM:613848	SERPINH1	871	HP:0000007	Autosomal recessive inheritance
OMIM:613848	SERPINH1	871	HP:0000325	Triangular face
OMIM:613848	SERPINH1	871	HP:0011800	Hypoplasia of midface
OMIM:613848	SERPINH1	871	HP:0004482	Relative macrocephaly
OMIM:613848	SERPINH1	871	HP:0000023	Inguinal hernia
OMIM:613848	SERPINH1	871	HP:0004322	Short stature
OMIM:613848	SERPINH1	871	HP:0000347	Micrognathia
OMIM:613848	SERPINH1	871	HP:0000272	Malar flattening
OMIM:613848	SERPINH1	871	HP:0000348	High forehead
OMIM:613848	SERPINH1	871	HP:0000787	Nephrolithiasis
OMIM:613848	SERPINH1	871	HP:0011220	Prominent forehead
OMIM:613848	SERPINH1	871	HP:0002021	Pyloric stenosis
OMIM:613848	SERPINH1	871	HP:0002857	Genu valgum
OMIM:613848	PPIB	5479	HP:0000341	Narrow forehead
OMIM:613848	PPIB	5479	HP:0000938	Osteopenia
OMIM:613848	PPIB	5479	HP:0001290	Generalized hypotonia
OMIM:613848	PPIB	5479	HP:0001620	High pitched voice
OMIM:613848	PPIB	5479	HP:0000926	Platyspondyly
OMIM:613848	PPIB	5479	HP:0001388	Joint laxity
OMIM:613848	PPIB	5479	HP:0000592	Blue sclerae
OMIM:613848	PPIB	5479	HP:0002983	Micromelia
OMIM:613848	PPIB	5479	HP:0002650	Scoliosis
OMIM:613848	PPIB	5479	HP:0000774	Narrow chest
OMIM:613848	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:613848	PPIB	5479	HP:0000325	Triangular face
OMIM:613848	PPIB	5479	HP:0011800	Hypoplasia of midface
OMIM:613848	PPIB	5479	HP:0004482	Relative macrocephaly
OMIM:613848	PPIB	5479	HP:0000023	Inguinal hernia
OMIM:613848	PPIB	5479	HP:0004322	Short stature
OMIM:613848	PPIB	5479	HP:0000347	Micrognathia
OMIM:613848	PPIB	5479	HP:0000272	Malar flattening
OMIM:613848	PPIB	5479	HP:0000348	High forehead
OMIM:613848	PPIB	5479	HP:0000787	Nephrolithiasis
OMIM:613848	PPIB	5479	HP:0011220	Prominent forehead
OMIM:613848	PPIB	5479	HP:0002021	Pyloric stenosis
OMIM:613848	PPIB	5479	HP:0002857	Genu valgum
OMIM:613848	SERPINF1	5176	HP:0000341	Narrow forehead
OMIM:613848	SERPINF1	5176	HP:0000938	Osteopenia
OMIM:613848	SERPINF1	5176	HP:0001290	Generalized hypotonia
OMIM:613848	SERPINF1	5176	HP:0001620	High pitched voice
OMIM:613848	SERPINF1	5176	HP:0000926	Platyspondyly
OMIM:613848	SERPINF1	5176	HP:0001388	Joint laxity
OMIM:613848	SERPINF1	5176	HP:0000592	Blue sclerae
OMIM:613848	SERPINF1	5176	HP:0002983	Micromelia
OMIM:613848	SERPINF1	5176	HP:0002650	Scoliosis
OMIM:613848	SERPINF1	5176	HP:0000774	Narrow chest
OMIM:613848	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:613848	SERPINF1	5176	HP:0000325	Triangular face
OMIM:613848	SERPINF1	5176	HP:0011800	Hypoplasia of midface
OMIM:613848	SERPINF1	5176	HP:0004482	Relative macrocephaly
OMIM:613848	SERPINF1	5176	HP:0000023	Inguinal hernia
OMIM:613848	SERPINF1	5176	HP:0004322	Short stature
OMIM:613848	SERPINF1	5176	HP:0000347	Micrognathia
OMIM:613848	SERPINF1	5176	HP:0000272	Malar flattening
OMIM:613848	SERPINF1	5176	HP:0000348	High forehead
OMIM:613848	SERPINF1	5176	HP:0000787	Nephrolithiasis
OMIM:613848	SERPINF1	5176	HP:0011220	Prominent forehead
OMIM:613848	SERPINF1	5176	HP:0002021	Pyloric stenosis
OMIM:613848	SERPINF1	5176	HP:0002857	Genu valgum
OMIM:613848	FKBP10	60681	HP:0000341	Narrow forehead
OMIM:613848	FKBP10	60681	HP:0000938	Osteopenia
OMIM:613848	FKBP10	60681	HP:0001290	Generalized hypotonia
OMIM:613848	FKBP10	60681	HP:0001620	High pitched voice
OMIM:613848	FKBP10	60681	HP:0000926	Platyspondyly
OMIM:613848	FKBP10	60681	HP:0001388	Joint laxity
OMIM:613848	FKBP10	60681	HP:0000592	Blue sclerae
OMIM:613848	FKBP10	60681	HP:0002983	Micromelia
OMIM:613848	FKBP10	60681	HP:0002650	Scoliosis
OMIM:613848	FKBP10	60681	HP:0000774	Narrow chest
OMIM:613848	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:613848	FKBP10	60681	HP:0000325	Triangular face
OMIM:613848	FKBP10	60681	HP:0011800	Hypoplasia of midface
OMIM:613848	FKBP10	60681	HP:0004482	Relative macrocephaly
OMIM:613848	FKBP10	60681	HP:0000023	Inguinal hernia
OMIM:613848	FKBP10	60681	HP:0004322	Short stature
OMIM:613848	FKBP10	60681	HP:0000347	Micrognathia
OMIM:613848	FKBP10	60681	HP:0000272	Malar flattening
OMIM:613848	FKBP10	60681	HP:0000348	High forehead
OMIM:613848	FKBP10	60681	HP:0000787	Nephrolithiasis
OMIM:613848	FKBP10	60681	HP:0011220	Prominent forehead
OMIM:613848	FKBP10	60681	HP:0002021	Pyloric stenosis
OMIM:613848	FKBP10	60681	HP:0002857	Genu valgum
OMIM:613848	BMP1	649	HP:0000341	Narrow forehead
OMIM:613848	BMP1	649	HP:0000938	Osteopenia
OMIM:613848	BMP1	649	HP:0001290	Generalized hypotonia
OMIM:613848	BMP1	649	HP:0001620	High pitched voice
OMIM:613848	BMP1	649	HP:0000926	Platyspondyly
OMIM:613848	BMP1	649	HP:0001388	Joint laxity
OMIM:613848	BMP1	649	HP:0000592	Blue sclerae
OMIM:613848	BMP1	649	HP:0002983	Micromelia
OMIM:613848	BMP1	649	HP:0002650	Scoliosis
OMIM:613848	BMP1	649	HP:0000774	Narrow chest
OMIM:613848	BMP1	649	HP:0000007	Autosomal recessive inheritance
OMIM:613848	BMP1	649	HP:0000325	Triangular face
OMIM:613848	BMP1	649	HP:0011800	Hypoplasia of midface
OMIM:613848	BMP1	649	HP:0004482	Relative macrocephaly
OMIM:613848	BMP1	649	HP:0000023	Inguinal hernia
OMIM:613848	BMP1	649	HP:0004322	Short stature
OMIM:613848	BMP1	649	HP:0000347	Micrognathia
OMIM:613848	BMP1	649	HP:0000272	Malar flattening
OMIM:613848	BMP1	649	HP:0000348	High forehead
OMIM:613848	BMP1	649	HP:0000787	Nephrolithiasis
OMIM:613848	BMP1	649	HP:0011220	Prominent forehead
OMIM:613848	BMP1	649	HP:0002021	Pyloric stenosis
OMIM:613848	BMP1	649	HP:0002857	Genu valgum
OMIM:613848	CRTAP	10491	HP:0000341	Narrow forehead
OMIM:613848	CRTAP	10491	HP:0000938	Osteopenia
OMIM:613848	CRTAP	10491	HP:0001290	Generalized hypotonia
OMIM:613848	CRTAP	10491	HP:0001620	High pitched voice
OMIM:613848	CRTAP	10491	HP:0000926	Platyspondyly
OMIM:613848	CRTAP	10491	HP:0001388	Joint laxity
OMIM:613848	CRTAP	10491	HP:0000592	Blue sclerae
OMIM:613848	CRTAP	10491	HP:0002983	Micromelia
OMIM:613848	CRTAP	10491	HP:0002650	Scoliosis
OMIM:613848	CRTAP	10491	HP:0000774	Narrow chest
OMIM:613848	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:613848	CRTAP	10491	HP:0000325	Triangular face
OMIM:613848	CRTAP	10491	HP:0011800	Hypoplasia of midface
OMIM:613848	CRTAP	10491	HP:0004482	Relative macrocephaly
OMIM:613848	CRTAP	10491	HP:0000023	Inguinal hernia
OMIM:613848	CRTAP	10491	HP:0004322	Short stature
OMIM:613848	CRTAP	10491	HP:0000347	Micrognathia
OMIM:613848	CRTAP	10491	HP:0000272	Malar flattening
OMIM:613848	CRTAP	10491	HP:0000348	High forehead
OMIM:613848	CRTAP	10491	HP:0000787	Nephrolithiasis
OMIM:613848	CRTAP	10491	HP:0011220	Prominent forehead
OMIM:613848	CRTAP	10491	HP:0002021	Pyloric stenosis
OMIM:613848	CRTAP	10491	HP:0002857	Genu valgum
OMIM:613848	COL1A1	1277	HP:0000341	Narrow forehead
OMIM:613848	COL1A1	1277	HP:0000938	Osteopenia
OMIM:613848	COL1A1	1277	HP:0001290	Generalized hypotonia
OMIM:613848	COL1A1	1277	HP:0001620	High pitched voice
OMIM:613848	COL1A1	1277	HP:0000926	Platyspondyly
OMIM:613848	COL1A1	1277	HP:0001388	Joint laxity
OMIM:613848	COL1A1	1277	HP:0000592	Blue sclerae
OMIM:613848	COL1A1	1277	HP:0002983	Micromelia
OMIM:613848	COL1A1	1277	HP:0002650	Scoliosis
OMIM:613848	COL1A1	1277	HP:0000774	Narrow chest
OMIM:613848	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:613848	COL1A1	1277	HP:0000325	Triangular face
OMIM:613848	COL1A1	1277	HP:0011800	Hypoplasia of midface
OMIM:613848	COL1A1	1277	HP:0004482	Relative macrocephaly
OMIM:613848	COL1A1	1277	HP:0000023	Inguinal hernia
OMIM:613848	COL1A1	1277	HP:0004322	Short stature
OMIM:613848	COL1A1	1277	HP:0000347	Micrognathia
OMIM:613848	COL1A1	1277	HP:0000272	Malar flattening
OMIM:613848	COL1A1	1277	HP:0000348	High forehead
OMIM:613848	COL1A1	1277	HP:0000787	Nephrolithiasis
OMIM:613848	COL1A1	1277	HP:0011220	Prominent forehead
OMIM:613848	COL1A1	1277	HP:0002021	Pyloric stenosis
OMIM:613848	COL1A1	1277	HP:0002857	Genu valgum
OMIM:613848	COL1A2	1278	HP:0000341	Narrow forehead
OMIM:613848	COL1A2	1278	HP:0000938	Osteopenia
OMIM:613848	COL1A2	1278	HP:0001290	Generalized hypotonia
OMIM:613848	COL1A2	1278	HP:0001620	High pitched voice
OMIM:613848	COL1A2	1278	HP:0000926	Platyspondyly
OMIM:613848	COL1A2	1278	HP:0001388	Joint laxity
OMIM:613848	COL1A2	1278	HP:0000592	Blue sclerae
OMIM:613848	COL1A2	1278	HP:0002983	Micromelia
OMIM:613848	COL1A2	1278	HP:0002650	Scoliosis
OMIM:613848	COL1A2	1278	HP:0000774	Narrow chest
OMIM:613848	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:613848	COL1A2	1278	HP:0000325	Triangular face
OMIM:613848	COL1A2	1278	HP:0011800	Hypoplasia of midface
OMIM:613848	COL1A2	1278	HP:0004482	Relative macrocephaly
OMIM:613848	COL1A2	1278	HP:0000023	Inguinal hernia
OMIM:613848	COL1A2	1278	HP:0004322	Short stature
OMIM:613848	COL1A2	1278	HP:0000347	Micrognathia
OMIM:613848	COL1A2	1278	HP:0000272	Malar flattening
OMIM:613848	COL1A2	1278	HP:0000348	High forehead
OMIM:613848	COL1A2	1278	HP:0000787	Nephrolithiasis
OMIM:613848	COL1A2	1278	HP:0011220	Prominent forehead
OMIM:613848	COL1A2	1278	HP:0002021	Pyloric stenosis
OMIM:613848	COL1A2	1278	HP:0002857	Genu valgum
OMIM:613848	P3H1	64175	HP:0000341	Narrow forehead
OMIM:613848	P3H1	64175	HP:0000938	Osteopenia
OMIM:613848	P3H1	64175	HP:0001290	Generalized hypotonia
OMIM:613848	P3H1	64175	HP:0001620	High pitched voice
OMIM:613848	P3H1	64175	HP:0000926	Platyspondyly
OMIM:613848	P3H1	64175	HP:0001388	Joint laxity
OMIM:613848	P3H1	64175	HP:0000592	Blue sclerae
OMIM:613848	P3H1	64175	HP:0002983	Micromelia
OMIM:613848	P3H1	64175	HP:0002650	Scoliosis
OMIM:613848	P3H1	64175	HP:0000774	Narrow chest
OMIM:613848	P3H1	64175	HP:0000007	Autosomal recessive inheritance
OMIM:613848	P3H1	64175	HP:0000325	Triangular face
OMIM:613848	P3H1	64175	HP:0011800	Hypoplasia of midface
OMIM:613848	P3H1	64175	HP:0004482	Relative macrocephaly
OMIM:613848	P3H1	64175	HP:0000023	Inguinal hernia
OMIM:613848	P3H1	64175	HP:0004322	Short stature
OMIM:613848	P3H1	64175	HP:0000347	Micrognathia
OMIM:613848	P3H1	64175	HP:0000272	Malar flattening
OMIM:613848	P3H1	64175	HP:0000348	High forehead
OMIM:613848	P3H1	64175	HP:0000787	Nephrolithiasis
OMIM:613848	P3H1	64175	HP:0011220	Prominent forehead
OMIM:613848	P3H1	64175	HP:0002021	Pyloric stenosis
OMIM:613848	P3H1	64175	HP:0002857	Genu valgum
OMIM:613848	WNT1	7471	HP:0000341	Narrow forehead
OMIM:613848	WNT1	7471	HP:0000938	Osteopenia
OMIM:613848	WNT1	7471	HP:0001290	Generalized hypotonia
OMIM:613848	WNT1	7471	HP:0001620	High pitched voice
OMIM:613848	WNT1	7471	HP:0000926	Platyspondyly
OMIM:613848	WNT1	7471	HP:0001388	Joint laxity
OMIM:613848	WNT1	7471	HP:0000592	Blue sclerae
OMIM:613848	WNT1	7471	HP:0002983	Micromelia
OMIM:613848	WNT1	7471	HP:0002650	Scoliosis
OMIM:613848	WNT1	7471	HP:0000774	Narrow chest
OMIM:613848	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:613848	WNT1	7471	HP:0000325	Triangular face
OMIM:613848	WNT1	7471	HP:0011800	Hypoplasia of midface
OMIM:613848	WNT1	7471	HP:0004482	Relative macrocephaly
OMIM:613848	WNT1	7471	HP:0000023	Inguinal hernia
OMIM:613848	WNT1	7471	HP:0004322	Short stature
OMIM:613848	WNT1	7471	HP:0000347	Micrognathia
OMIM:613848	WNT1	7471	HP:0000272	Malar flattening
OMIM:613848	WNT1	7471	HP:0000348	High forehead
OMIM:613848	WNT1	7471	HP:0000787	Nephrolithiasis
OMIM:613848	WNT1	7471	HP:0011220	Prominent forehead
OMIM:613848	WNT1	7471	HP:0002021	Pyloric stenosis
OMIM:613848	WNT1	7471	HP:0002857	Genu valgum
OMIM:613225	F13A1	2162	HP:0000978	Bruising susceptibility
OMIM:613225	F13A1	2162	HP:0002170	Intracranial hemorrhage
OMIM:613225	F13A1	2162	HP:0000421	Epistaxis
OMIM:613225	F13A1	2162	HP:0000007	Autosomal recessive inheritance
OMIM:613225	F13A1	2162	HP:0003577	Congenital onset
OMIM:613225	F13A1	2162	HP:0008357	Reduced factor XIII activity
OMIM:613225	F13B	2165	HP:0000978	Bruising susceptibility
OMIM:613225	F13B	2165	HP:0002170	Intracranial hemorrhage
OMIM:613225	F13B	2165	HP:0000421	Epistaxis
OMIM:613225	F13B	2165	HP:0000007	Autosomal recessive inheritance
OMIM:613225	F13B	2165	HP:0003577	Congenital onset
OMIM:613225	F13B	2165	HP:0008357	Reduced factor XIII activity
OMIM:607812	SEC23A	10484	HP:0002299	Brittle hair
OMIM:607812	SEC23A	10484	HP:0011362	Abnormal hair quantity
OMIM:607812	SEC23A	10484	HP:0001000	Abnormality of skin pigmentation
OMIM:607812	SEC23A	10484	HP:0000670	Carious teeth
OMIM:607812	SEC23A	10484	HP:0007648	Punctate cataract
OMIM:607812	SEC23A	10484	HP:0000426	Prominent nasal bridge
OMIM:607812	SEC23A	10484	HP:0000463	Anteverted nares
OMIM:607812	SEC23A	10484	HP:0001388	Joint laxity
OMIM:607812	SEC23A	10484	HP:0002650	Scoliosis
OMIM:607812	SEC23A	10484	HP:0004322	Short stature
OMIM:607812	SEC23A	10484	HP:0000316	Hypertelorism
OMIM:607812	SEC23A	10484	HP:0000684	Delayed eruption of teeth
OMIM:607812	SEC23A	10484	HP:0000938	Osteopenia
OMIM:607812	SEC23A	10484	HP:0002208	Coarse hair
OMIM:607812	SEC23A	10484	HP:0001763	Pes planus
OMIM:607812	SEC23A	10484	HP:0002007	Frontal bossing
OMIM:607812	SEC23A	10484	HP:0000193	Bifid uvula
OMIM:607812	SEC23A	10484	HP:0000336	Prominent supraorbital ridges
OMIM:607812	SEC23A	10484	HP:0000691	Microdontia
OMIM:607812	SEC23A	10484	HP:0000174	Abnormality of the palate
OMIM:607812	SEC23A	10484	HP:0000233	Thin vermilion border
OMIM:607812	SEC23A	10484	HP:0010695	Sutural cataract
OMIM:607812	SEC23A	10484	HP:0002020	Gastroesophageal reflux
OMIM:607812	SEC23A	10484	HP:0000154	Wide mouth
OMIM:607812	SEC23A	10484	HP:0000272	Malar flattening
OMIM:607812	SEC23A	10484	HP:0003312	Abnormal form of the vertebral bodies
OMIM:607812	SEC23A	10484	HP:0000774	Narrow chest
OMIM:607812	SEC23A	10484	HP:0000343	Long philtrum
OMIM:607812	SEC23A	10484	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:607812	SEC23A	10484	HP:0004331	Decreased skull ossification
OMIM:607812	SEC23A	10484	HP:0000007	Autosomal recessive inheritance
OMIM:607812	SEC23A	10484	HP:0000565	Esotropia
OMIM:607812	SEC23A	10484	HP:0000175	Cleft palate
OMIM:607812	SEC23A	10484	HP:0000319	Smooth philtrum
OMIM:607812	SEC23A	10484	HP:0000685	Hypoplasia of teeth
OMIM:607812	SEC23A	10484	HP:0000431	Wide nasal bridge
OMIM:607812	SEC23A	10484	HP:0003043	Abnormality of the shoulder
OMIM:607812	SEC23A	10484	HP:0000219	Thin upper lip vermilion
OMIM:607812	SEC23A	10484	HP:0011800	Hypoplasia of midface
OMIM:607812	SEC23A	10484	HP:0008070	Sparse hair
OMIM:607812	SEC23A	10484	HP:0001382	Joint hypermobility
OMIM:607812	SEC23A	10484	HP:0000518	Cataract
OMIM:607812	SEC23A	10484	HP:0002167	Neurological speech impairment
OMIM:607812	SEC23A	10484	HP:0000028	Cryptorchidism
OMIM:607812	SEC23A	10484	HP:0000256	Macrocephaly
OMIM:607812	SEC23A	10484	HP:0009804	Reduced number of teeth
OMIM:602082	TGFBI	7045	HP:0000006	Autosomal dominant inheritance
OMIM:602082	TGFBI	7045	HP:0001131	Corneal dystrophy
OMIM:602082	TGFBI	7045	HP:0000613	Photophobia
OMIM:121201	KCNQ2	3785	HP:0002266	Focal clonic seizures
OMIM:121201	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:121201	KCNQ2	3785	HP:0002069	Generalized tonic-clonic seizures
OMIM:121201	KCNQ3	3786	HP:0002266	Focal clonic seizures
OMIM:121201	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:121201	KCNQ3	3786	HP:0002069	Generalized tonic-clonic seizures
OMIM:607616	SMPD1	6609	HP:0002094	Dyspnea
OMIM:607616	SMPD1	6609	HP:0002240	Hepatomegaly
OMIM:607616	SMPD1	6609	HP:0003233	Hypoalphalipoproteinemia
OMIM:607616	SMPD1	6609	HP:0004322	Short stature
OMIM:607616	SMPD1	6609	HP:0001744	Splenomegaly
OMIM:607616	SMPD1	6609	HP:0002155	Hypertriglyceridemia
OMIM:607616	SMPD1	6609	HP:0001103	Abnormality of the macula
OMIM:607616	SMPD1	6609	HP:0000007	Autosomal recessive inheritance
OMIM:607616	SMPD1	6609	HP:0002205	Recurrent respiratory infections
OMIM:607616	SMPD1	6609	HP:0003621	Juvenile onset
OMIM:607616	SMPD1	6609	HP:0003812	Phenotypic variability
OMIM:400003	DAZ1	1617	HP:0000027	Azoospermia
OMIM:400003	DAZ1	1617	HP:0001450	Y-linked inheritance
OMIM:400003	DAZ1	1617	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:143100	SLC2A3	6515	HP:0001347	Hyperreflexia
OMIM:143100	SLC2A3	6515	HP:0002529	Neuronal loss in central nervous system
OMIM:143100	SLC2A3	6515	HP:0001608	Abnormality of the voice
OMIM:143100	SLC2A3	6515	HP:0002063	Rigidity
OMIM:143100	SLC2A3	6515	HP:0000496	Abnormality of eye movement
OMIM:143100	SLC2A3	6515	HP:0002353	EEG abnormality
OMIM:143100	SLC2A3	6515	HP:0000708	Behavioral abnormality
OMIM:143100	SLC2A3	6515	HP:0002072	Chorea
OMIM:143100	SLC2A3	6515	HP:0100022	Abnormality of movement
OMIM:143100	SLC2A3	6515	HP:0002376	Developmental regression
OMIM:143100	SLC2A3	6515	HP:0001276	Hypertonia
OMIM:143100	SLC2A3	6515	HP:0002120	Cerebral cortical atrophy
OMIM:143100	SLC2A3	6515	HP:0002171	Gliosis
OMIM:143100	SLC2A3	6515	HP:0002067	Bradykinesia
OMIM:143100	SLC2A3	6515	HP:0000006	Autosomal dominant inheritance
OMIM:143100	SLC2A3	6515	HP:0000716	Depression
OMIM:143100	SLC2A3	6515	HP:0000726	Dementia
OMIM:143100	HTT	3064	HP:0001347	Hyperreflexia
OMIM:143100	HTT	3064	HP:0002529	Neuronal loss in central nervous system
OMIM:143100	HTT	3064	HP:0001608	Abnormality of the voice
OMIM:143100	HTT	3064	HP:0002063	Rigidity
OMIM:143100	HTT	3064	HP:0000496	Abnormality of eye movement
OMIM:143100	HTT	3064	HP:0002353	EEG abnormality
OMIM:143100	HTT	3064	HP:0000708	Behavioral abnormality
OMIM:143100	HTT	3064	HP:0002072	Chorea
OMIM:143100	HTT	3064	HP:0100022	Abnormality of movement
OMIM:143100	HTT	3064	HP:0002376	Developmental regression
OMIM:143100	HTT	3064	HP:0001276	Hypertonia
OMIM:143100	HTT	3064	HP:0002120	Cerebral cortical atrophy
OMIM:143100	HTT	3064	HP:0002171	Gliosis
OMIM:143100	HTT	3064	HP:0002067	Bradykinesia
OMIM:143100	HTT	3064	HP:0000006	Autosomal dominant inheritance
OMIM:143100	HTT	3064	HP:0000716	Depression
OMIM:143100	HTT	3064	HP:0000726	Dementia
OMIM:143100	TBX18	9096	HP:0001347	Hyperreflexia
OMIM:143100	TBX18	9096	HP:0002529	Neuronal loss in central nervous system
OMIM:143100	TBX18	9096	HP:0001608	Abnormality of the voice
OMIM:143100	TBX18	9096	HP:0002063	Rigidity
OMIM:143100	TBX18	9096	HP:0000496	Abnormality of eye movement
OMIM:143100	TBX18	9096	HP:0002353	EEG abnormality
OMIM:143100	TBX18	9096	HP:0000708	Behavioral abnormality
OMIM:143100	TBX18	9096	HP:0002072	Chorea
OMIM:143100	TBX18	9096	HP:0100022	Abnormality of movement
OMIM:143100	TBX18	9096	HP:0002376	Developmental regression
OMIM:143100	TBX18	9096	HP:0001276	Hypertonia
OMIM:143100	TBX18	9096	HP:0002120	Cerebral cortical atrophy
OMIM:143100	TBX18	9096	HP:0002171	Gliosis
OMIM:143100	TBX18	9096	HP:0002067	Bradykinesia
OMIM:143100	TBX18	9096	HP:0000006	Autosomal dominant inheritance
OMIM:143100	TBX18	9096	HP:0000716	Depression
OMIM:143100	TBX18	9096	HP:0000726	Dementia
OMIM:300321	FLNA	2316	HP:0001417	X-linked inheritance
OMIM:300321	FLNA	2316	HP:0002019	Constipation
OMIM:300321	FLNA	2316	HP:0001319	Neonatal hypotonia
OMIM:300321	FLNA	2316	HP:0000750	Delayed speech and language development
OMIM:245570	SRPX2	27286	HP:0010524	Agnosia
OMIM:245570	SRPX2	27286	HP:0003829	Incomplete penetrance
OMIM:245570	SRPX2	27286	HP:0001263	Global developmental delay
OMIM:245570	SRPX2	27286	HP:0002357	Dysphasia
OMIM:245570	SRPX2	27286	HP:0011098	Speech apraxia
OMIM:245570	SRPX2	27286	HP:0012557	EEG with centrotemporal focal spike waves
OMIM:245570	SRPX2	27286	HP:0000750	Delayed speech and language development
OMIM:245570	SRPX2	27286	HP:0001249	Intellectual disability
OMIM:245570	SRPX2	27286	HP:0000006	Autosomal dominant inheritance
OMIM:245570	SRPX2	27286	HP:0007018	Attention deficit hyperactivity disorder
OMIM:245570	SRPX2	27286	HP:0001250	Seizures
OMIM:245570	SRPX2	27286	HP:0002381	Aphasia
OMIM:245570	SRPX2	27286	HP:0003828	Variable expressivity
OMIM:245570	GABRG2	2566	HP:0010524	Agnosia
OMIM:245570	GABRG2	2566	HP:0003829	Incomplete penetrance
OMIM:245570	GABRG2	2566	HP:0001263	Global developmental delay
OMIM:245570	GABRG2	2566	HP:0002357	Dysphasia
OMIM:245570	GABRG2	2566	HP:0011098	Speech apraxia
OMIM:245570	GABRG2	2566	HP:0012557	EEG with centrotemporal focal spike waves
OMIM:245570	GABRG2	2566	HP:0000750	Delayed speech and language development
OMIM:245570	GABRG2	2566	HP:0001249	Intellectual disability
OMIM:245570	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:245570	GABRG2	2566	HP:0007018	Attention deficit hyperactivity disorder
OMIM:245570	GABRG2	2566	HP:0001250	Seizures
OMIM:245570	GABRG2	2566	HP:0002381	Aphasia
OMIM:245570	GABRG2	2566	HP:0003828	Variable expressivity
OMIM:245570	GRIN2A	2903	HP:0010524	Agnosia
OMIM:245570	GRIN2A	2903	HP:0003829	Incomplete penetrance
OMIM:245570	GRIN2A	2903	HP:0001263	Global developmental delay
OMIM:245570	GRIN2A	2903	HP:0002357	Dysphasia
OMIM:245570	GRIN2A	2903	HP:0011098	Speech apraxia
OMIM:245570	GRIN2A	2903	HP:0012557	EEG with centrotemporal focal spike waves
OMIM:245570	GRIN2A	2903	HP:0000750	Delayed speech and language development
OMIM:245570	GRIN2A	2903	HP:0001249	Intellectual disability
OMIM:245570	GRIN2A	2903	HP:0000006	Autosomal dominant inheritance
OMIM:245570	GRIN2A	2903	HP:0007018	Attention deficit hyperactivity disorder
OMIM:245570	GRIN2A	2903	HP:0001250	Seizures
OMIM:245570	GRIN2A	2903	HP:0002381	Aphasia
OMIM:245570	GRIN2A	2903	HP:0003828	Variable expressivity
OMIM:613834	ACTA2	59	HP:0002789	Tachypnea
OMIM:613834	ACTA2	59	HP:0002566	Intestinal malrotation
OMIM:613834	ACTA2	59	HP:0000028	Cryptorchidism
OMIM:613834	ACTA2	59	HP:0000006	Autosomal dominant inheritance
OMIM:613834	ACTA2	59	HP:0001643	Patent ductus arteriosus
OMIM:613834	ACTA2	59	HP:0012727	Thoracic aortic aneurysm
OMIM:614474	GATA6	2627	HP:0006695	Atrioventricular canal defect
OMIM:614474	GATA6	2627	HP:0000006	Autosomal dominant inheritance
OMIM:612285	ZNF423	23090	HP:0002419	Molar tooth sign on MRI
OMIM:612285	ZNF423	23090	HP:0000518	Cataract
OMIM:612285	ZNF423	23090	HP:0001249	Intellectual disability
OMIM:612285	ZNF423	23090	HP:0000007	Autosomal recessive inheritance
OMIM:612285	ZNF423	23090	HP:0000639	Nystagmus
OMIM:612285	ZNF423	23090	HP:0002119	Ventriculomegaly
OMIM:612285	ZNF423	23090	HP:0000483	Astigmatism
OMIM:612285	ZNF423	23090	HP:0000510	Rod-cone dystrophy
OMIM:612285	ZNF423	23090	HP:0001250	Seizures
OMIM:612285	TMEM138	51524	HP:0002419	Molar tooth sign on MRI
OMIM:612285	TMEM138	51524	HP:0000518	Cataract
OMIM:612285	TMEM138	51524	HP:0001249	Intellectual disability
OMIM:612285	TMEM138	51524	HP:0000007	Autosomal recessive inheritance
OMIM:612285	TMEM138	51524	HP:0000639	Nystagmus
OMIM:612285	TMEM138	51524	HP:0002119	Ventriculomegaly
OMIM:612285	TMEM138	51524	HP:0000483	Astigmatism
OMIM:612285	TMEM138	51524	HP:0000510	Rod-cone dystrophy
OMIM:612285	TMEM138	51524	HP:0001250	Seizures
OMIM:612285	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:612285	TMEM237	65062	HP:0000518	Cataract
OMIM:612285	TMEM237	65062	HP:0001249	Intellectual disability
OMIM:612285	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:612285	TMEM237	65062	HP:0000639	Nystagmus
OMIM:612285	TMEM237	65062	HP:0002119	Ventriculomegaly
OMIM:612285	TMEM237	65062	HP:0000483	Astigmatism
OMIM:612285	TMEM237	65062	HP:0000510	Rod-cone dystrophy
OMIM:612285	TMEM237	65062	HP:0001250	Seizures
OMIM:612285	CC2D2A	57545	HP:0002419	Molar tooth sign on MRI
OMIM:612285	CC2D2A	57545	HP:0000518	Cataract
OMIM:612285	CC2D2A	57545	HP:0001249	Intellectual disability
OMIM:612285	CC2D2A	57545	HP:0000007	Autosomal recessive inheritance
OMIM:612285	CC2D2A	57545	HP:0000639	Nystagmus
OMIM:612285	CC2D2A	57545	HP:0002119	Ventriculomegaly
OMIM:612285	CC2D2A	57545	HP:0000483	Astigmatism
OMIM:612285	CC2D2A	57545	HP:0000510	Rod-cone dystrophy
OMIM:612285	CC2D2A	57545	HP:0001250	Seizures
OMIM:612285	CEP290	80184	HP:0002419	Molar tooth sign on MRI
OMIM:612285	CEP290	80184	HP:0000518	Cataract
OMIM:612285	CEP290	80184	HP:0001249	Intellectual disability
OMIM:612285	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:612285	CEP290	80184	HP:0000639	Nystagmus
OMIM:612285	CEP290	80184	HP:0002119	Ventriculomegaly
OMIM:612285	CEP290	80184	HP:0000483	Astigmatism
OMIM:612285	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:612285	CEP290	80184	HP:0001250	Seizures
OMIM:612285	TMEM216	51259	HP:0002419	Molar tooth sign on MRI
OMIM:612285	TMEM216	51259	HP:0000518	Cataract
OMIM:612285	TMEM216	51259	HP:0001249	Intellectual disability
OMIM:612285	TMEM216	51259	HP:0000007	Autosomal recessive inheritance
OMIM:612285	TMEM216	51259	HP:0000639	Nystagmus
OMIM:612285	TMEM216	51259	HP:0002119	Ventriculomegaly
OMIM:612285	TMEM216	51259	HP:0000483	Astigmatism
OMIM:612285	TMEM216	51259	HP:0000510	Rod-cone dystrophy
OMIM:612285	TMEM216	51259	HP:0001250	Seizures
OMIM:612285	TMEM231	79583	HP:0002419	Molar tooth sign on MRI
OMIM:612285	TMEM231	79583	HP:0000518	Cataract
OMIM:612285	TMEM231	79583	HP:0001249	Intellectual disability
OMIM:612285	TMEM231	79583	HP:0000007	Autosomal recessive inheritance
OMIM:612285	TMEM231	79583	HP:0000639	Nystagmus
OMIM:612285	TMEM231	79583	HP:0002119	Ventriculomegaly
OMIM:612285	TMEM231	79583	HP:0000483	Astigmatism
OMIM:612285	TMEM231	79583	HP:0000510	Rod-cone dystrophy
OMIM:612285	TMEM231	79583	HP:0001250	Seizures
OMIM:611022	MSRB3	253827	HP:0003593	Infantile onset
OMIM:611022	MSRB3	253827	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:611022	BSND	7809	HP:0003593	Infantile onset
OMIM:611022	BSND	7809	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:611022	ESPN	83715	HP:0003593	Infantile onset
OMIM:611022	ESPN	83715	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:611022	DFNB31	25861	HP:0003593	Infantile onset
OMIM:611022	DFNB31	25861	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:611022	OTOA	146183	HP:0003593	Infantile onset
OMIM:611022	OTOA	146183	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:611022	GJA1	2697	HP:0003593	Infantile onset
OMIM:611022	GJA1	2697	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:611022	MET	4233	HP:0003593	Infantile onset
OMIM:611022	MET	4233	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:611022	CLDN14	23562	HP:0003593	Infantile onset
OMIM:611022	CLDN14	23562	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:611022	HGF	3082	HP:0003593	Infantile onset
OMIM:611022	HGF	3082	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:611022	PNPT1	87178	HP:0003593	Infantile onset
OMIM:611022	PNPT1	87178	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:611022	EPS8	2059	HP:0003593	Infantile onset
OMIM:611022	EPS8	2059	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:611022	MYO3A	53904	HP:0003593	Infantile onset
OMIM:611022	MYO3A	53904	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:611022	DCDC2	51473	HP:0003593	Infantile onset
OMIM:611022	DCDC2	51473	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:611022	GJB2	2706	HP:0003593	Infantile onset
OMIM:611022	GJB2	2706	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:611022	GJB3	2707	HP:0003593	Infantile onset
OMIM:611022	GJB3	2707	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:611022	CABP2	51475	HP:0003593	Infantile onset
OMIM:611022	CABP2	51475	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:611022	GRXCR2	643226	HP:0003593	Infantile onset
OMIM:611022	GRXCR2	643226	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:611022	SERPINB6	5269	HP:0003593	Infantile onset
OMIM:611022	SERPINB6	5269	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:611022	COL11A2	1302	HP:0003593	Infantile onset
OMIM:611022	COL11A2	1302	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:611022	CIB2	10518	HP:0003593	Infantile onset
OMIM:611022	CIB2	10518	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:611022	FAM65B	9750	HP:0003593	Infantile onset
OMIM:611022	FAM65B	9750	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:611022	KARS	3735	HP:0003593	Infantile onset
OMIM:611022	KARS	3735	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:611022	LOXHD1	125336	HP:0003593	Infantile onset
OMIM:611022	LOXHD1	125336	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:611022	TMC1	117531	HP:0003593	Infantile onset
OMIM:611022	TMC1	117531	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:611022	CLIC5	53405	HP:0003593	Infantile onset
OMIM:611022	CLIC5	53405	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:611022	OTOF	9381	HP:0003593	Infantile onset
OMIM:611022	OTOF	9381	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:611022	MYO6	4646	HP:0003593	Infantile onset
OMIM:611022	MYO6	4646	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:611022	TMIE	259236	HP:0003593	Infantile onset
OMIM:611022	TMIE	259236	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:611022	MYO7A	4647	HP:0003593	Infantile onset
OMIM:611022	MYO7A	4647	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:611022	LRTOMT	220074	HP:0003593	Infantile onset
OMIM:611022	LRTOMT	220074	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:611022	OTOGL	283310	HP:0003593	Infantile onset
OMIM:611022	OTOGL	283310	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:611022	TPRN	286262	HP:0003593	Infantile onset
OMIM:611022	TPRN	286262	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:611022	SLC26A4	5172	HP:0003593	Infantile onset
OMIM:611022	SLC26A4	5172	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:611022	GJB6	10804	HP:0003593	Infantile onset
OMIM:611022	GJB6	10804	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:611022	DFNB59	494513	HP:0003593	Infantile onset
OMIM:611022	DFNB59	494513	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:611022	ESRRB	2103	HP:0003593	Infantile onset
OMIM:611022	ESRRB	2103	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:611022	TMPRSS3	64699	HP:0003593	Infantile onset
OMIM:611022	TMPRSS3	64699	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:611022	PTPRQ	374462	HP:0003593	Infantile onset
OMIM:611022	PTPRQ	374462	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:611022	SLC26A5	375611	HP:0003593	Infantile onset
OMIM:611022	SLC26A5	375611	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:611022	PCDH15	65217	HP:0003593	Infantile onset
OMIM:611022	PCDH15	65217	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:611022	TSPEAR	54084	HP:0003593	Infantile onset
OMIM:611022	TSPEAR	54084	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:611022	LHFPL5	222662	HP:0003593	Infantile onset
OMIM:611022	LHFPL5	222662	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:611022	TRIOBP	11078	HP:0003593	Infantile onset
OMIM:611022	TRIOBP	11078	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:611022	CDH23	64072	HP:0003593	Infantile onset
OMIM:611022	CDH23	64072	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:611022	RDX	5962	HP:0003593	Infantile onset
OMIM:611022	RDX	5962	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:611022	GPSM2	29899	HP:0003593	Infantile onset
OMIM:611022	GPSM2	29899	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:611022	ELMOD3	84173	HP:0003593	Infantile onset
OMIM:611022	ELMOD3	84173	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:611022	ILDR1	286676	HP:0003593	Infantile onset
OMIM:611022	ILDR1	286676	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:611022	GRXCR1	389207	HP:0003593	Infantile onset
OMIM:611022	GRXCR1	389207	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:611022	MARVELD2	153562	HP:0003593	Infantile onset
OMIM:611022	MARVELD2	153562	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:611022	STRC	161497	HP:0003593	Infantile onset
OMIM:611022	STRC	161497	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:611022	SLITRK6	84189	HP:0003593	Infantile onset
OMIM:611022	SLITRK6	84189	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:611022	TECTA	7007	HP:0003593	Infantile onset
OMIM:611022	TECTA	7007	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:611022	MYO15A	51168	HP:0003593	Infantile onset
OMIM:611022	MYO15A	51168	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:611022	USH1C	10083	HP:0003593	Infantile onset
OMIM:611022	USH1C	10083	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:611022	ADCY1	107	HP:0003593	Infantile onset
OMIM:611022	ADCY1	107	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:611022	SYNE4	163183	HP:0003593	Infantile onset
OMIM:611022	SYNE4	163183	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:611022	GIPC3	126326	HP:0003593	Infantile onset
OMIM:611022	GIPC3	126326	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:611022	TBC1D24	57465	HP:0003593	Infantile onset
OMIM:611022	TBC1D24	57465	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:611022	OTOG	340990	HP:0003593	Infantile onset
OMIM:611022	OTOG	340990	HP:0011476	Profound sensorineural hearing impairment
OMIM:611022	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:613159	XPNPEP3	63929	HP:0000407	Sensorineural hearing impairment
OMIM:613159	XPNPEP3	63929	HP:0000007	Autosomal recessive inheritance
OMIM:613159	XPNPEP3	63929	HP:0001250	Seizures
OMIM:613159	XPNPEP3	63929	HP:0000822	Hypertension
OMIM:613159	XPNPEP3	63929	HP:0000090	Nephronophthisis
OMIM:613159	XPNPEP3	63929	HP:0003774	Stage 5 chronic kidney disease
OMIM:613159	XPNPEP3	63929	HP:0001249	Intellectual disability
OMIM:150800	FH	2271	HP:0003829	Incomplete penetrance
OMIM:150800	FH	2271	HP:0000989	Pruritus
OMIM:150800	FH	2271	HP:0000518	Cataract
OMIM:150800	FH	2271	HP:0000006	Autosomal dominant inheritance
OMIM:150800	FH	2271	HP:0003011	Abnormality of the musculature
OMIM:150800	FH	2271	HP:0100751	Esophageal neoplasm
OMIM:150800	FH	2271	HP:0100650	Vaginal neoplasm
OMIM:150800	FH	2271	HP:0008069	Neoplasm of the skin
OMIM:615907	VEGFC	7424	HP:0001004	Lymphedema
OMIM:615907	FLT4	2324	HP:0001004	Lymphedema
OMIM:615907	GJC2	57165	HP:0001004	Lymphedema
OMIM:613978	HBA2	3040	HP:0002240	Hepatomegaly
OMIM:613978	HBA2	3040	HP:0001878	Hemolytic anemia
OMIM:613978	HBA2	3040	HP:0001744	Splenomegaly
OMIM:613978	HBA1	3039	HP:0002240	Hepatomegaly
OMIM:613978	HBA1	3039	HP:0001878	Hemolytic anemia
OMIM:613978	HBA1	3039	HP:0001744	Splenomegaly
OMIM:614837	PROK2	60675	HP:0000028	Cryptorchidism
OMIM:614837	PROK2	60675	HP:0000027	Azoospermia
OMIM:614837	PROK2	60675	HP:0000054	Micropenis
OMIM:614837	PROK2	60675	HP:0002750	Delayed skeletal maturation
OMIM:614837	PROK2	60675	HP:0000013	Hypoplasia of the uterus
OMIM:614837	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	PROK2	60675	HP:0000938	Osteopenia
OMIM:614837	PROK2	60675	HP:0000458	Anosmia
OMIM:614837	PROK2	60675	HP:0008734	Decreased testicular size
OMIM:614837	PROK2	60675	HP:0000007	Autosomal recessive inheritance
OMIM:614837	PROK2	60675	HP:0000786	Primary amenorrhea
OMIM:614837	PROKR2	128674	HP:0000028	Cryptorchidism
OMIM:614837	PROKR2	128674	HP:0000027	Azoospermia
OMIM:614837	PROKR2	128674	HP:0000054	Micropenis
OMIM:614837	PROKR2	128674	HP:0002750	Delayed skeletal maturation
OMIM:614837	PROKR2	128674	HP:0000013	Hypoplasia of the uterus
OMIM:614837	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	PROKR2	128674	HP:0000938	Osteopenia
OMIM:614837	PROKR2	128674	HP:0000458	Anosmia
OMIM:614837	PROKR2	128674	HP:0008734	Decreased testicular size
OMIM:614837	PROKR2	128674	HP:0000007	Autosomal recessive inheritance
OMIM:614837	PROKR2	128674	HP:0000786	Primary amenorrhea
OMIM:614837	SEMA3A	10371	HP:0000028	Cryptorchidism
OMIM:614837	SEMA3A	10371	HP:0000027	Azoospermia
OMIM:614837	SEMA3A	10371	HP:0000054	Micropenis
OMIM:614837	SEMA3A	10371	HP:0002750	Delayed skeletal maturation
OMIM:614837	SEMA3A	10371	HP:0000013	Hypoplasia of the uterus
OMIM:614837	SEMA3A	10371	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	SEMA3A	10371	HP:0000938	Osteopenia
OMIM:614837	SEMA3A	10371	HP:0000458	Anosmia
OMIM:614837	SEMA3A	10371	HP:0008734	Decreased testicular size
OMIM:614837	SEMA3A	10371	HP:0000007	Autosomal recessive inheritance
OMIM:614837	SEMA3A	10371	HP:0000786	Primary amenorrhea
OMIM:614837	IL17RD	54756	HP:0000028	Cryptorchidism
OMIM:614837	IL17RD	54756	HP:0000027	Azoospermia
OMIM:614837	IL17RD	54756	HP:0000054	Micropenis
OMIM:614837	IL17RD	54756	HP:0002750	Delayed skeletal maturation
OMIM:614837	IL17RD	54756	HP:0000013	Hypoplasia of the uterus
OMIM:614837	IL17RD	54756	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	IL17RD	54756	HP:0000938	Osteopenia
OMIM:614837	IL17RD	54756	HP:0000458	Anosmia
OMIM:614837	IL17RD	54756	HP:0008734	Decreased testicular size
OMIM:614837	IL17RD	54756	HP:0000007	Autosomal recessive inheritance
OMIM:614837	IL17RD	54756	HP:0000786	Primary amenorrhea
OMIM:614837	WDR11	55717	HP:0000028	Cryptorchidism
OMIM:614837	WDR11	55717	HP:0000027	Azoospermia
OMIM:614837	WDR11	55717	HP:0000054	Micropenis
OMIM:614837	WDR11	55717	HP:0002750	Delayed skeletal maturation
OMIM:614837	WDR11	55717	HP:0000013	Hypoplasia of the uterus
OMIM:614837	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	WDR11	55717	HP:0000938	Osteopenia
OMIM:614837	WDR11	55717	HP:0000458	Anosmia
OMIM:614837	WDR11	55717	HP:0008734	Decreased testicular size
OMIM:614837	WDR11	55717	HP:0000007	Autosomal recessive inheritance
OMIM:614837	WDR11	55717	HP:0000786	Primary amenorrhea
OMIM:614837	KISS1	3814	HP:0000028	Cryptorchidism
OMIM:614837	KISS1	3814	HP:0000027	Azoospermia
OMIM:614837	KISS1	3814	HP:0000054	Micropenis
OMIM:614837	KISS1	3814	HP:0002750	Delayed skeletal maturation
OMIM:614837	KISS1	3814	HP:0000013	Hypoplasia of the uterus
OMIM:614837	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	KISS1	3814	HP:0000938	Osteopenia
OMIM:614837	KISS1	3814	HP:0000458	Anosmia
OMIM:614837	KISS1	3814	HP:0008734	Decreased testicular size
OMIM:614837	KISS1	3814	HP:0000007	Autosomal recessive inheritance
OMIM:614837	KISS1	3814	HP:0000786	Primary amenorrhea
OMIM:614837	SOX10	6663	HP:0000028	Cryptorchidism
OMIM:614837	SOX10	6663	HP:0000027	Azoospermia
OMIM:614837	SOX10	6663	HP:0000054	Micropenis
OMIM:614837	SOX10	6663	HP:0002750	Delayed skeletal maturation
OMIM:614837	SOX10	6663	HP:0000013	Hypoplasia of the uterus
OMIM:614837	SOX10	6663	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	SOX10	6663	HP:0000938	Osteopenia
OMIM:614837	SOX10	6663	HP:0000458	Anosmia
OMIM:614837	SOX10	6663	HP:0008734	Decreased testicular size
OMIM:614837	SOX10	6663	HP:0000007	Autosomal recessive inheritance
OMIM:614837	SOX10	6663	HP:0000786	Primary amenorrhea
OMIM:614837	FEZF1	389549	HP:0000028	Cryptorchidism
OMIM:614837	FEZF1	389549	HP:0000027	Azoospermia
OMIM:614837	FEZF1	389549	HP:0000054	Micropenis
OMIM:614837	FEZF1	389549	HP:0002750	Delayed skeletal maturation
OMIM:614837	FEZF1	389549	HP:0000013	Hypoplasia of the uterus
OMIM:614837	FEZF1	389549	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	FEZF1	389549	HP:0000938	Osteopenia
OMIM:614837	FEZF1	389549	HP:0000458	Anosmia
OMIM:614837	FEZF1	389549	HP:0008734	Decreased testicular size
OMIM:614837	FEZF1	389549	HP:0000007	Autosomal recessive inheritance
OMIM:614837	FEZF1	389549	HP:0000786	Primary amenorrhea
OMIM:614837	GNRH1	2796	HP:0000028	Cryptorchidism
OMIM:614837	GNRH1	2796	HP:0000027	Azoospermia
OMIM:614837	GNRH1	2796	HP:0000054	Micropenis
OMIM:614837	GNRH1	2796	HP:0002750	Delayed skeletal maturation
OMIM:614837	GNRH1	2796	HP:0000013	Hypoplasia of the uterus
OMIM:614837	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	GNRH1	2796	HP:0000938	Osteopenia
OMIM:614837	GNRH1	2796	HP:0000458	Anosmia
OMIM:614837	GNRH1	2796	HP:0008734	Decreased testicular size
OMIM:614837	GNRH1	2796	HP:0000007	Autosomal recessive inheritance
OMIM:614837	GNRH1	2796	HP:0000786	Primary amenorrhea
OMIM:614837	FGF8	2253	HP:0000028	Cryptorchidism
OMIM:614837	FGF8	2253	HP:0000027	Azoospermia
OMIM:614837	FGF8	2253	HP:0000054	Micropenis
OMIM:614837	FGF8	2253	HP:0002750	Delayed skeletal maturation
OMIM:614837	FGF8	2253	HP:0000013	Hypoplasia of the uterus
OMIM:614837	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	FGF8	2253	HP:0000938	Osteopenia
OMIM:614837	FGF8	2253	HP:0000458	Anosmia
OMIM:614837	FGF8	2253	HP:0008734	Decreased testicular size
OMIM:614837	FGF8	2253	HP:0000007	Autosomal recessive inheritance
OMIM:614837	FGF8	2253	HP:0000786	Primary amenorrhea
OMIM:614837	GNRHR	2798	HP:0000028	Cryptorchidism
OMIM:614837	GNRHR	2798	HP:0000027	Azoospermia
OMIM:614837	GNRHR	2798	HP:0000054	Micropenis
OMIM:614837	GNRHR	2798	HP:0002750	Delayed skeletal maturation
OMIM:614837	GNRHR	2798	HP:0000013	Hypoplasia of the uterus
OMIM:614837	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	GNRHR	2798	HP:0000938	Osteopenia
OMIM:614837	GNRHR	2798	HP:0000458	Anosmia
OMIM:614837	GNRHR	2798	HP:0008734	Decreased testicular size
OMIM:614837	GNRHR	2798	HP:0000007	Autosomal recessive inheritance
OMIM:614837	GNRHR	2798	HP:0000786	Primary amenorrhea
OMIM:614837	ANOS1	3730	HP:0000028	Cryptorchidism
OMIM:614837	ANOS1	3730	HP:0000027	Azoospermia
OMIM:614837	ANOS1	3730	HP:0000054	Micropenis
OMIM:614837	ANOS1	3730	HP:0002750	Delayed skeletal maturation
OMIM:614837	ANOS1	3730	HP:0000013	Hypoplasia of the uterus
OMIM:614837	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	ANOS1	3730	HP:0000938	Osteopenia
OMIM:614837	ANOS1	3730	HP:0000458	Anosmia
OMIM:614837	ANOS1	3730	HP:0008734	Decreased testicular size
OMIM:614837	ANOS1	3730	HP:0000007	Autosomal recessive inheritance
OMIM:614837	ANOS1	3730	HP:0000786	Primary amenorrhea
OMIM:614837	TAC3	6866	HP:0000028	Cryptorchidism
OMIM:614837	TAC3	6866	HP:0000027	Azoospermia
OMIM:614837	TAC3	6866	HP:0000054	Micropenis
OMIM:614837	TAC3	6866	HP:0002750	Delayed skeletal maturation
OMIM:614837	TAC3	6866	HP:0000013	Hypoplasia of the uterus
OMIM:614837	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	TAC3	6866	HP:0000938	Osteopenia
OMIM:614837	TAC3	6866	HP:0000458	Anosmia
OMIM:614837	TAC3	6866	HP:0008734	Decreased testicular size
OMIM:614837	TAC3	6866	HP:0000007	Autosomal recessive inheritance
OMIM:614837	TAC3	6866	HP:0000786	Primary amenorrhea
OMIM:614837	HS6ST1	9394	HP:0000028	Cryptorchidism
OMIM:614837	HS6ST1	9394	HP:0000027	Azoospermia
OMIM:614837	HS6ST1	9394	HP:0000054	Micropenis
OMIM:614837	HS6ST1	9394	HP:0002750	Delayed skeletal maturation
OMIM:614837	HS6ST1	9394	HP:0000013	Hypoplasia of the uterus
OMIM:614837	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	HS6ST1	9394	HP:0000938	Osteopenia
OMIM:614837	HS6ST1	9394	HP:0000458	Anosmia
OMIM:614837	HS6ST1	9394	HP:0008734	Decreased testicular size
OMIM:614837	HS6ST1	9394	HP:0000007	Autosomal recessive inheritance
OMIM:614837	HS6ST1	9394	HP:0000786	Primary amenorrhea
OMIM:614837	CHD7	55636	HP:0000028	Cryptorchidism
OMIM:614837	CHD7	55636	HP:0000027	Azoospermia
OMIM:614837	CHD7	55636	HP:0000054	Micropenis
OMIM:614837	CHD7	55636	HP:0002750	Delayed skeletal maturation
OMIM:614837	CHD7	55636	HP:0000013	Hypoplasia of the uterus
OMIM:614837	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	CHD7	55636	HP:0000938	Osteopenia
OMIM:614837	CHD7	55636	HP:0000458	Anosmia
OMIM:614837	CHD7	55636	HP:0008734	Decreased testicular size
OMIM:614837	CHD7	55636	HP:0000007	Autosomal recessive inheritance
OMIM:614837	CHD7	55636	HP:0000786	Primary amenorrhea
OMIM:614837	FGFR1	2260	HP:0000028	Cryptorchidism
OMIM:614837	FGFR1	2260	HP:0000027	Azoospermia
OMIM:614837	FGFR1	2260	HP:0000054	Micropenis
OMIM:614837	FGFR1	2260	HP:0002750	Delayed skeletal maturation
OMIM:614837	FGFR1	2260	HP:0000013	Hypoplasia of the uterus
OMIM:614837	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	FGFR1	2260	HP:0000938	Osteopenia
OMIM:614837	FGFR1	2260	HP:0000458	Anosmia
OMIM:614837	FGFR1	2260	HP:0008734	Decreased testicular size
OMIM:614837	FGFR1	2260	HP:0000007	Autosomal recessive inheritance
OMIM:614837	FGFR1	2260	HP:0000786	Primary amenorrhea
OMIM:614837	HESX1	8820	HP:0000028	Cryptorchidism
OMIM:614837	HESX1	8820	HP:0000027	Azoospermia
OMIM:614837	HESX1	8820	HP:0000054	Micropenis
OMIM:614837	HESX1	8820	HP:0002750	Delayed skeletal maturation
OMIM:614837	HESX1	8820	HP:0000013	Hypoplasia of the uterus
OMIM:614837	HESX1	8820	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	HESX1	8820	HP:0000938	Osteopenia
OMIM:614837	HESX1	8820	HP:0000458	Anosmia
OMIM:614837	HESX1	8820	HP:0008734	Decreased testicular size
OMIM:614837	HESX1	8820	HP:0000007	Autosomal recessive inheritance
OMIM:614837	HESX1	8820	HP:0000786	Primary amenorrhea
OMIM:614837	TACR3	6870	HP:0000028	Cryptorchidism
OMIM:614837	TACR3	6870	HP:0000027	Azoospermia
OMIM:614837	TACR3	6870	HP:0000054	Micropenis
OMIM:614837	TACR3	6870	HP:0002750	Delayed skeletal maturation
OMIM:614837	TACR3	6870	HP:0000013	Hypoplasia of the uterus
OMIM:614837	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	TACR3	6870	HP:0000938	Osteopenia
OMIM:614837	TACR3	6870	HP:0000458	Anosmia
OMIM:614837	TACR3	6870	HP:0008734	Decreased testicular size
OMIM:614837	TACR3	6870	HP:0000007	Autosomal recessive inheritance
OMIM:614837	TACR3	6870	HP:0000786	Primary amenorrhea
OMIM:614837	FGF17	8822	HP:0000028	Cryptorchidism
OMIM:614837	FGF17	8822	HP:0000027	Azoospermia
OMIM:614837	FGF17	8822	HP:0000054	Micropenis
OMIM:614837	FGF17	8822	HP:0002750	Delayed skeletal maturation
OMIM:614837	FGF17	8822	HP:0000013	Hypoplasia of the uterus
OMIM:614837	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	FGF17	8822	HP:0000938	Osteopenia
OMIM:614837	FGF17	8822	HP:0000458	Anosmia
OMIM:614837	FGF17	8822	HP:0008734	Decreased testicular size
OMIM:614837	FGF17	8822	HP:0000007	Autosomal recessive inheritance
OMIM:614837	FGF17	8822	HP:0000786	Primary amenorrhea
OMIM:614837	FLRT3	23767	HP:0000028	Cryptorchidism
OMIM:614837	FLRT3	23767	HP:0000027	Azoospermia
OMIM:614837	FLRT3	23767	HP:0000054	Micropenis
OMIM:614837	FLRT3	23767	HP:0002750	Delayed skeletal maturation
OMIM:614837	FLRT3	23767	HP:0000013	Hypoplasia of the uterus
OMIM:614837	FLRT3	23767	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	FLRT3	23767	HP:0000938	Osteopenia
OMIM:614837	FLRT3	23767	HP:0000458	Anosmia
OMIM:614837	FLRT3	23767	HP:0008734	Decreased testicular size
OMIM:614837	FLRT3	23767	HP:0000007	Autosomal recessive inheritance
OMIM:614837	FLRT3	23767	HP:0000786	Primary amenorrhea
OMIM:614837	DUSP6	1848	HP:0000028	Cryptorchidism
OMIM:614837	DUSP6	1848	HP:0000027	Azoospermia
OMIM:614837	DUSP6	1848	HP:0000054	Micropenis
OMIM:614837	DUSP6	1848	HP:0002750	Delayed skeletal maturation
OMIM:614837	DUSP6	1848	HP:0000013	Hypoplasia of the uterus
OMIM:614837	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	DUSP6	1848	HP:0000938	Osteopenia
OMIM:614837	DUSP6	1848	HP:0000458	Anosmia
OMIM:614837	DUSP6	1848	HP:0008734	Decreased testicular size
OMIM:614837	DUSP6	1848	HP:0000007	Autosomal recessive inheritance
OMIM:614837	DUSP6	1848	HP:0000786	Primary amenorrhea
OMIM:614837	SPRY4	81848	HP:0000028	Cryptorchidism
OMIM:614837	SPRY4	81848	HP:0000027	Azoospermia
OMIM:614837	SPRY4	81848	HP:0000054	Micropenis
OMIM:614837	SPRY4	81848	HP:0002750	Delayed skeletal maturation
OMIM:614837	SPRY4	81848	HP:0000013	Hypoplasia of the uterus
OMIM:614837	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	SPRY4	81848	HP:0000938	Osteopenia
OMIM:614837	SPRY4	81848	HP:0000458	Anosmia
OMIM:614837	SPRY4	81848	HP:0008734	Decreased testicular size
OMIM:614837	SPRY4	81848	HP:0000007	Autosomal recessive inheritance
OMIM:614837	SPRY4	81848	HP:0000786	Primary amenorrhea
OMIM:614837	KISS1R	84634	HP:0000028	Cryptorchidism
OMIM:614837	KISS1R	84634	HP:0000027	Azoospermia
OMIM:614837	KISS1R	84634	HP:0000054	Micropenis
OMIM:614837	KISS1R	84634	HP:0002750	Delayed skeletal maturation
OMIM:614837	KISS1R	84634	HP:0000013	Hypoplasia of the uterus
OMIM:614837	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	KISS1R	84634	HP:0000938	Osteopenia
OMIM:614837	KISS1R	84634	HP:0000458	Anosmia
OMIM:614837	KISS1R	84634	HP:0008734	Decreased testicular size
OMIM:614837	KISS1R	84634	HP:0000007	Autosomal recessive inheritance
OMIM:614837	KISS1R	84634	HP:0000786	Primary amenorrhea
OMIM:614837	NSMF	26012	HP:0000028	Cryptorchidism
OMIM:614837	NSMF	26012	HP:0000027	Azoospermia
OMIM:614837	NSMF	26012	HP:0000054	Micropenis
OMIM:614837	NSMF	26012	HP:0002750	Delayed skeletal maturation
OMIM:614837	NSMF	26012	HP:0000013	Hypoplasia of the uterus
OMIM:614837	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614837	NSMF	26012	HP:0000938	Osteopenia
OMIM:614837	NSMF	26012	HP:0000458	Anosmia
OMIM:614837	NSMF	26012	HP:0008734	Decreased testicular size
OMIM:614837	NSMF	26012	HP:0000007	Autosomal recessive inheritance
OMIM:614837	NSMF	26012	HP:0000786	Primary amenorrhea
OMIM:610163	CD3D	915	HP:0002721	Immunodeficiency
OMIM:610163	CD3D	915	HP:0001880	Eosinophilia
OMIM:610163	CD3D	915	HP:0005403	T lymphocytopenia
OMIM:610163	CD3D	915	HP:0004385	Protracted diarrhea
OMIM:610163	CD3D	915	HP:0005353	Susceptibility to herpesvirus
OMIM:610163	CD3D	915	HP:0000007	Autosomal recessive inheritance
OMIM:610163	CD3E	916	HP:0002721	Immunodeficiency
OMIM:610163	CD3E	916	HP:0001880	Eosinophilia
OMIM:610163	CD3E	916	HP:0005403	T lymphocytopenia
OMIM:610163	CD3E	916	HP:0004385	Protracted diarrhea
OMIM:610163	CD3E	916	HP:0005353	Susceptibility to herpesvirus
OMIM:610163	CD3E	916	HP:0000007	Autosomal recessive inheritance
OMIM:610163	CD247	919	HP:0002721	Immunodeficiency
OMIM:610163	CD247	919	HP:0001880	Eosinophilia
OMIM:610163	CD247	919	HP:0005403	T lymphocytopenia
OMIM:610163	CD247	919	HP:0004385	Protracted diarrhea
OMIM:610163	CD247	919	HP:0005353	Susceptibility to herpesvirus
OMIM:610163	CD247	919	HP:0000007	Autosomal recessive inheritance
OMIM:615673	MICU1	10367	HP:0001332	Dystonia
OMIM:615673	MICU1	10367	HP:0001337	Tremor
OMIM:615673	MICU1	10367	HP:0001328	Specific learning disability
OMIM:615673	MICU1	10367	HP:0002072	Chorea
OMIM:615673	MICU1	10367	HP:0000007	Autosomal recessive inheritance
OMIM:615673	MICU1	10367	HP:0003701	Proximal muscle weakness
OMIM:615673	MICU1	10367	HP:0002071	Abnormality of extrapyramidal motor function
ORPHANET:2440	BTRC	8945	HP:0001171	Split hand
ORPHANET:2440	BTRC	8945	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:2440	BTRC	8945	HP:0006101	Finger syndactyly
ORPHANET:2440	BTRC	8945	HP:0000407	Sensorineural hearing impairment
ORPHANET:2440	TP63	8626	HP:0001171	Split hand
ORPHANET:2440	TP63	8626	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:2440	TP63	8626	HP:0006101	Finger syndactyly
ORPHANET:2440	TP63	8626	HP:0000407	Sensorineural hearing impairment
ORPHANET:2440	FBXW4	6468	HP:0001171	Split hand
ORPHANET:2440	FBXW4	6468	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:2440	FBXW4	6468	HP:0006101	Finger syndactyly
ORPHANET:2440	FBXW4	6468	HP:0000407	Sensorineural hearing impairment
ORPHANET:2440	DLX5	1749	HP:0001171	Split hand
ORPHANET:2440	DLX5	1749	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:2440	DLX5	1749	HP:0006101	Finger syndactyly
ORPHANET:2440	DLX5	1749	HP:0000407	Sensorineural hearing impairment
ORPHANET:2440	WNT10B	7480	HP:0001171	Split hand
ORPHANET:2440	WNT10B	7480	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:2440	WNT10B	7480	HP:0006101	Finger syndactyly
ORPHANET:2440	WNT10B	7480	HP:0000407	Sensorineural hearing impairment
ORPHANET:2440	SHFM1	7979	HP:0001171	Split hand
ORPHANET:2440	SHFM1	7979	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHANET:2440	SHFM1	7979	HP:0006101	Finger syndactyly
ORPHANET:2440	SHFM1	7979	HP:0000407	Sensorineural hearing impairment
OMIM:160980	PRKAR1A	5573	HP:0001007	Hirsutism
OMIM:160980	PRKAR1A	5573	HP:0001635	Congestive heart failure
OMIM:160980	PRKAR1A	5573	HP:0000478	Abnormality of the eye
OMIM:160980	PRKAR1A	5573	HP:0002890	Thyroid carcinoma
OMIM:160980	PRKAR1A	5573	HP:0002893	Pituitary adenoma
OMIM:160980	PRKAR1A	5573	HP:0000845	Growth hormone excess
OMIM:160980	PRKAR1A	5573	HP:0003764	Nevus
OMIM:160980	PRKAR1A	5573	HP:0000006	Autosomal dominant inheritance
OMIM:160980	PRKAR1A	5573	HP:0001480	Freckling
OMIM:605130	SMC1A	8243	HP:0000343	Long philtrum
OMIM:605130	SMC1A	8243	HP:0004209	Clinodactyly of the 5th finger
OMIM:605130	SMC1A	8243	HP:0000664	Synophrys
OMIM:605130	SMC1A	8243	HP:0001182	Tapered finger
OMIM:605130	SMC1A	8243	HP:0000219	Thin upper lip vermilion
OMIM:605130	SMC1A	8243	HP:0000581	Blepharophimosis
OMIM:605130	SMC1A	8243	HP:0001252	Muscular hypotonia
OMIM:605130	SMC1A	8243	HP:0005819	Short middle phalanx of finger
OMIM:605130	SMC1A	8243	HP:0000369	Low-set ears
OMIM:605130	SMC1A	8243	HP:0000218	High palate
OMIM:605130	SMC1A	8243	HP:0000486	Strabismus
OMIM:605130	SMC1A	8243	HP:0000494	Downslanted palpebral fissures
OMIM:605130	SMC1A	8243	HP:0004322	Short stature
OMIM:605130	SMC1A	8243	HP:0002750	Delayed skeletal maturation
OMIM:605130	SMC1A	8243	HP:0012368	Flat face
OMIM:605130	SMC1A	8243	HP:0001831	Short toe
OMIM:605130	SMC1A	8243	HP:0000445	Wide nose
OMIM:605130	SMC1A	8243	HP:0001249	Intellectual disability
OMIM:605130	SMC1A	8243	HP:0000527	Long eyelashes
OMIM:605130	SMC1A	8243	HP:0000750	Delayed speech and language development
OMIM:605130	SMC1A	8243	HP:0000718	Aggressive behavior
OMIM:605130	SMC1A	8243	HP:0000574	Thick eyebrow
OMIM:605130	SMC1A	8243	HP:0001250	Seizures
OMIM:605130	SMC1A	8243	HP:0002019	Constipation
OMIM:605130	SMC1A	8243	HP:0001508	Failure to thrive
OMIM:605130	SMC1A	8243	HP:0000316	Hypertelorism
OMIM:605130	SMC1A	8243	HP:0000960	Sacral dimple
OMIM:605130	SMC1A	8243	HP:0000286	Epicanthus
OMIM:605130	KMT2A	4297	HP:0000343	Long philtrum
OMIM:605130	KMT2A	4297	HP:0004209	Clinodactyly of the 5th finger
OMIM:605130	KMT2A	4297	HP:0000664	Synophrys
OMIM:605130	KMT2A	4297	HP:0001182	Tapered finger
OMIM:605130	KMT2A	4297	HP:0000219	Thin upper lip vermilion
OMIM:605130	KMT2A	4297	HP:0000581	Blepharophimosis
OMIM:605130	KMT2A	4297	HP:0001252	Muscular hypotonia
OMIM:605130	KMT2A	4297	HP:0005819	Short middle phalanx of finger
OMIM:605130	KMT2A	4297	HP:0000369	Low-set ears
OMIM:605130	KMT2A	4297	HP:0000218	High palate
OMIM:605130	KMT2A	4297	HP:0000486	Strabismus
OMIM:605130	KMT2A	4297	HP:0000494	Downslanted palpebral fissures
OMIM:605130	KMT2A	4297	HP:0004322	Short stature
OMIM:605130	KMT2A	4297	HP:0002750	Delayed skeletal maturation
OMIM:605130	KMT2A	4297	HP:0012368	Flat face
OMIM:605130	KMT2A	4297	HP:0001831	Short toe
OMIM:605130	KMT2A	4297	HP:0000445	Wide nose
OMIM:605130	KMT2A	4297	HP:0001249	Intellectual disability
OMIM:605130	KMT2A	4297	HP:0000527	Long eyelashes
OMIM:605130	KMT2A	4297	HP:0000750	Delayed speech and language development
OMIM:605130	KMT2A	4297	HP:0000718	Aggressive behavior
OMIM:605130	KMT2A	4297	HP:0000574	Thick eyebrow
OMIM:605130	KMT2A	4297	HP:0001250	Seizures
OMIM:605130	KMT2A	4297	HP:0002019	Constipation
OMIM:605130	KMT2A	4297	HP:0001508	Failure to thrive
OMIM:605130	KMT2A	4297	HP:0000316	Hypertelorism
OMIM:605130	KMT2A	4297	HP:0000960	Sacral dimple
OMIM:605130	KMT2A	4297	HP:0000286	Epicanthus
OMIM:217090	PLG	5340	HP:0000256	Macrocephaly
OMIM:217090	PLG	5340	HP:0000509	Conjunctivitis
OMIM:217090	PLG	5340	HP:0000787	Nephrolithiasis
OMIM:217090	PLG	5340	HP:0000618	Blindness
OMIM:217090	PLG	5340	HP:0000704	Periodontitis
OMIM:217090	PLG	5340	HP:0000123	Nephritis
OMIM:217090	PLG	5340	HP:0001305	Dandy-Walker malformation
OMIM:217090	PLG	5340	HP:0000163	Abnormality of the oral cavity
OMIM:217090	PLG	5340	HP:0000238	Hydrocephalus
OMIM:217090	PLG	5340	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217090	PLG	5340	HP:0000212	Gingival overgrowth
OMIM:217090	PLG	5340	HP:0000951	Abnormality of the skin
OMIM:217090	PLG	5340	HP:0001626	Abnormality of the cardiovascular system
OMIM:217090	PLG	5340	HP:0002242	Abnormality of the intestine
OMIM:217090	PLG	5340	HP:0001600	Abnormality of the larynx
OMIM:217090	PLG	5340	HP:0000007	Autosomal recessive inheritance
OMIM:217090	PLG	5340	HP:0001321	Cerebellar hypoplasia
OMIM:217090	PLG	5340	HP:0000147	Polycystic ovaries
OMIM:217090	PLG	5340	HP:0000370	Abnormality of the middle ear
OMIM:217090	PLG	5340	HP:0002086	Abnormality of the respiratory system
OMIM:217090	PLG	5340	HP:0002788	Recurrent upper respiratory tract infections
OMIM:217090	PLG	5340	HP:0000598	Abnormality of the ear
OMIM:217090	PLG	5340	HP:0002588	Duodenal ulcer
OMIM:217090	PLG	5340	HP:0000230	Gingivitis
OMIM:217090	PLG	5340	HP:0003593	Infantile onset
OMIM:217090	PLG	5340	HP:0000478	Abnormality of the eye
OMIM:312300	AR	367	HP:0004349	Reduced bone mineral density
OMIM:312300	AR	367	HP:0008736	Hypoplasia of penis
OMIM:312300	AR	367	HP:0000047	Hypospadias
OMIM:312300	AR	367	HP:0010458	Female pseudohermaphroditism
OMIM:312300	AR	367	HP:0000048	Bifid scrotum
OMIM:312300	AR	367	HP:0100627	Displacement of the external urethral meatus
OMIM:312300	AR	367	HP:0000028	Cryptorchidism
OMIM:312300	AR	367	HP:0000008	Abnormality of female internal genitalia
OMIM:312300	AR	367	HP:0000054	Micropenis
OMIM:312300	AR	367	HP:0001419	X-linked recessive inheritance
OMIM:312300	AR	367	HP:0000135	Hypogonadism
OMIM:312300	AR	367	HP:0001547	Abnormality of the rib cage
OMIM:312300	AR	367	HP:0000037	Male pseudohermaphroditism
OMIM:312300	AR	367	HP:0000027	Azoospermia
OMIM:312300	AR	367	HP:0000144	Decreased fertility
OMIM:312300	AR	367	HP:0000789	Infertility
OMIM:312300	AR	367	HP:0010788	Testicular neoplasm
OMIM:614018	GOSR2	9570	HP:0002355	Difficulty walking
OMIM:614018	GOSR2	9570	HP:0001260	Dysarthria
OMIM:614018	GOSR2	9570	HP:0010819	Atonic seizures
OMIM:614018	GOSR2	9570	HP:0002650	Scoliosis
OMIM:614018	GOSR2	9570	HP:0001251	Ataxia
OMIM:614018	GOSR2	9570	HP:0001337	Tremor
OMIM:614018	GOSR2	9570	HP:0001284	Areflexia
OMIM:614018	GOSR2	9570	HP:0000007	Autosomal recessive inheritance
OMIM:614018	GOSR2	9570	HP:0003676	Progressive
OMIM:614018	GOSR2	9570	HP:0001336	Myoclonus
OMIM:614018	GOSR2	9570	HP:0003236	Elevated serum creatine phosphokinase
OMIM:614018	GOSR2	9570	HP:0002121	Absence seizures
OMIM:613355	TBX4	9496	HP:0000388	Otitis media
OMIM:613355	TBX4	9496	HP:0002553	Highly arched eyebrow
OMIM:613355	TBX4	9496	HP:0000365	Hearing impairment
OMIM:613355	TBX4	9496	HP:0000960	Sacral dimple
OMIM:613355	TBX4	9496	HP:0000486	Strabismus
OMIM:613355	TBX4	9496	HP:0001347	Hyperreflexia
OMIM:613355	TBX4	9496	HP:0001631	Atria septal defect
OMIM:613355	TBX4	9496	HP:0001647	Bicuspid aortic valve
OMIM:613355	TBX4	9496	HP:0000718	Aggressive behavior
OMIM:613355	TBX4	9496	HP:0001518	Small for gestational age
OMIM:613355	TBX4	9496	HP:0001643	Patent ductus arteriosus
OMIM:613355	TBX4	9496	HP:0002007	Frontal bossing
OMIM:613355	TBX4	9496	HP:0001238	Slender finger
OMIM:613355	TBX4	9496	HP:0004209	Clinodactyly of the 5th finger
OMIM:613355	TBX4	9496	HP:0003745	Sporadic
OMIM:613355	TBX4	9496	HP:0100543	Cognitive impairment
OMIM:613355	TBX4	9496	HP:0010511	Long toe
OMIM:613355	TBX4	9496	HP:0000252	Microcephaly
OMIM:613355	TBX4	9496	HP:0002167	Neurological speech impairment
OMIM:613355	TBX4	9496	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613355	TBX4	9496	HP:0000498	Blepharitis
OMIM:613355	TBX4	9496	HP:0001252	Muscular hypotonia
OMIM:613355	TBX4	9496	HP:0001256	Intellectual disability, mild
OMIM:613355	TBX4	9496	HP:0000499	Abnormality of the eyelashes
OMIM:613355	TBX4	9496	HP:0000272	Malar flattening
OMIM:613355	TBX4	9496	HP:0000049	Shawl scrotum
OMIM:613355	TBX4	9496	HP:0001511	Intrauterine growth retardation
OMIM:613355	TBX4	9496	HP:0001263	Global developmental delay
OMIM:613355	TBX4	9496	HP:0001166	Arachnodactyly
OMIM:613355	TBX4	9496	HP:0005930	Abnormality of epiphysis morphology
OMIM:613355	TBX4	9496	HP:0001852	Sandal gap
OMIM:613355	TBX4	9496	HP:0000708	Behavioral abnormality
OMIM:613355	TBX4	9496	HP:0000164	Abnormality of the teeth
OMIM:613355	TBX4	9496	HP:0002093	Respiratory insufficiency
OMIM:613355	TBX4	9496	HP:0005280	Depressed nasal bridge
OMIM:613355	TBX4	9496	HP:0000316	Hypertelorism
OMIM:613355	TBX4	9496	HP:0100807	Long fingers
OMIM:613355	TBX4	9496	HP:0001999	Abnormal facial shape
OMIM:613355	TBX4	9496	HP:0008897	Postnatal growth retardation
OMIM:613355	TBX4	9496	HP:0000160	Narrow mouth
OMIM:613355	TBX4	9496	HP:0004122	Midline defect of the nose
OMIM:613355	TBX4	9496	HP:0002650	Scoliosis
OMIM:613355	TBX4	9496	HP:0000954	Single transverse palmar crease
OMIM:613355	TBX4	9496	HP:0003272	Abnormality of the hip bone
OMIM:613355	TBX4	9496	HP:0001763	Pes planus
OMIM:613355	TBX4	9496	HP:0006443	Patellar aplasia
OMIM:613355	TBX4	9496	HP:0004322	Short stature
OMIM:613355	TBX4	9496	HP:0001376	Limitation of joint mobility
OMIM:613355	TBX4	9496	HP:0000286	Epicanthus
OMIM:613355	TBX2	6909	HP:0000388	Otitis media
OMIM:613355	TBX2	6909	HP:0002553	Highly arched eyebrow
OMIM:613355	TBX2	6909	HP:0000365	Hearing impairment
OMIM:613355	TBX2	6909	HP:0000960	Sacral dimple
OMIM:613355	TBX2	6909	HP:0000486	Strabismus
OMIM:613355	TBX2	6909	HP:0001347	Hyperreflexia
OMIM:613355	TBX2	6909	HP:0001631	Atria septal defect
OMIM:613355	TBX2	6909	HP:0001647	Bicuspid aortic valve
OMIM:613355	TBX2	6909	HP:0000718	Aggressive behavior
OMIM:613355	TBX2	6909	HP:0001518	Small for gestational age
OMIM:613355	TBX2	6909	HP:0001643	Patent ductus arteriosus
OMIM:613355	TBX2	6909	HP:0002007	Frontal bossing
OMIM:613355	TBX2	6909	HP:0001238	Slender finger
OMIM:613355	TBX2	6909	HP:0004209	Clinodactyly of the 5th finger
OMIM:613355	TBX2	6909	HP:0003745	Sporadic
OMIM:613355	TBX2	6909	HP:0100543	Cognitive impairment
OMIM:613355	TBX2	6909	HP:0010511	Long toe
OMIM:613355	TBX2	6909	HP:0000252	Microcephaly
OMIM:613355	TBX2	6909	HP:0002167	Neurological speech impairment
OMIM:613355	TBX2	6909	HP:0000368	Low-set, posteriorly rotated ears
OMIM:613355	TBX2	6909	HP:0000498	Blepharitis
OMIM:613355	TBX2	6909	HP:0001252	Muscular hypotonia
OMIM:613355	TBX2	6909	HP:0001256	Intellectual disability, mild
OMIM:613355	TBX2	6909	HP:0000499	Abnormality of the eyelashes
OMIM:613355	TBX2	6909	HP:0000272	Malar flattening
OMIM:613355	TBX2	6909	HP:0000049	Shawl scrotum
OMIM:613355	TBX2	6909	HP:0001511	Intrauterine growth retardation
OMIM:613355	TBX2	6909	HP:0001263	Global developmental delay
OMIM:613355	TBX2	6909	HP:0001166	Arachnodactyly
OMIM:613355	TBX2	6909	HP:0005930	Abnormality of epiphysis morphology
OMIM:613355	TBX2	6909	HP:0001852	Sandal gap
OMIM:613355	TBX2	6909	HP:0000708	Behavioral abnormality
OMIM:613355	TBX2	6909	HP:0000164	Abnormality of the teeth
OMIM:613355	TBX2	6909	HP:0002093	Respiratory insufficiency
OMIM:613355	TBX2	6909	HP:0005280	Depressed nasal bridge
OMIM:613355	TBX2	6909	HP:0000316	Hypertelorism
OMIM:613355	TBX2	6909	HP:0100807	Long fingers
OMIM:613355	TBX2	6909	HP:0001999	Abnormal facial shape
OMIM:613355	TBX2	6909	HP:0008897	Postnatal growth retardation
OMIM:613355	TBX2	6909	HP:0000160	Narrow mouth
OMIM:613355	TBX2	6909	HP:0004122	Midline defect of the nose
OMIM:613355	TBX2	6909	HP:0002650	Scoliosis
OMIM:613355	TBX2	6909	HP:0000954	Single transverse palmar crease
OMIM:613355	TBX2	6909	HP:0003272	Abnormality of the hip bone
OMIM:613355	TBX2	6909	HP:0001763	Pes planus
OMIM:613355	TBX2	6909	HP:0006443	Patellar aplasia
OMIM:613355	TBX2	6909	HP:0004322	Short stature
OMIM:613355	TBX2	6909	HP:0001376	Limitation of joint mobility
OMIM:613355	TBX2	6909	HP:0000286	Epicanthus
OMIM:309548	AFF2	2334	HP:0000426	Prominent nasal bridge
OMIM:309548	AFF2	2334	HP:0000750	Delayed speech and language development
OMIM:309548	AFF2	2334	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:309548	AFF2	2334	HP:0000713	Agitation
OMIM:309548	AFF2	2334	HP:0000718	Aggressive behavior
OMIM:309548	AFF2	2334	HP:0001419	X-linked recessive inheritance
OMIM:309548	AFF2	2334	HP:0000286	Epicanthus
OMIM:309548	AFF2	2334	HP:0000722	Obsessive-compulsive behavior
OMIM:309548	AFF2	2334	HP:0001249	Intellectual disability
OMIM:309548	AFF2	2334	HP:0000752	Hyperactivity
OMIM:271245	C10ORF2	56652	HP:0000365	Hearing impairment
OMIM:271245	C10ORF2	56652	HP:0000639	Nystagmus
OMIM:271245	C10ORF2	56652	HP:0002305	Athetosis
OMIM:271245	C10ORF2	56652	HP:0002076	Migraine
OMIM:271245	C10ORF2	56652	HP:0000602	Ophthalmoplegia
OMIM:271245	C10ORF2	56652	HP:0002120	Cerebral cortical atrophy
OMIM:271245	C10ORF2	56652	HP:0002311	Incoordination
OMIM:271245	C10ORF2	56652	HP:0000648	Optic atrophy
OMIM:271245	C10ORF2	56652	HP:0000007	Autosomal recessive inheritance
OMIM:271245	C10ORF2	56652	HP:0001315	Reduced tendon reflexes
OMIM:271245	C10ORF2	56652	HP:0001272	Cerebellar atrophy
OMIM:271245	C10ORF2	56652	HP:0001252	Muscular hypotonia
OMIM:271245	C10ORF2	56652	HP:0001249	Intellectual disability
OMIM:271245	C10ORF2	56652	HP:0100022	Abnormality of movement
OMIM:271245	C10ORF2	56652	HP:0000709	Psychosis
OMIM:271245	C10ORF2	56652	HP:0000815	Hypergonadotropic hypogonadism
OMIM:271245	C10ORF2	56652	HP:0000597	Ophthalmoparesis
OMIM:271245	C10ORF2	56652	HP:0002910	Elevated hepatic transaminases
OMIM:271245	C10ORF2	56652	HP:0001328	Specific learning disability
OMIM:271245	C10ORF2	56652	HP:0001284	Areflexia
OMIM:271245	C10ORF2	56652	HP:0006957	Loss of ability to walk
OMIM:271245	C10ORF2	56652	HP:0003676	Progressive
OMIM:271245	C10ORF2	56652	HP:0001324	Muscle weakness
OMIM:271245	C10ORF2	56652	HP:0001251	Ataxia
OMIM:271245	C10ORF2	56652	HP:0200134	Epileptic encephalopathy
OMIM:276902	CLRN1	7401	HP:0007663	Reduced visual acuity
OMIM:276902	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:276902	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:276902	CLRN1	7401	HP:0001123	Visual field defect
OMIM:276902	CLRN1	7401	HP:0001751	Vestibular dysfunction
OMIM:276902	CLRN1	7401	HP:0000407	Sensorineural hearing impairment
OMIM:276902	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:276902	HARS	3035	HP:0007663	Reduced visual acuity
OMIM:276902	HARS	3035	HP:0000007	Autosomal recessive inheritance
OMIM:276902	HARS	3035	HP:0000510	Rod-cone dystrophy
OMIM:276902	HARS	3035	HP:0001123	Visual field defect
OMIM:276902	HARS	3035	HP:0001751	Vestibular dysfunction
OMIM:276902	HARS	3035	HP:0000407	Sensorineural hearing impairment
OMIM:276902	HARS	3035	HP:0000662	Nyctalopia
OMIM:276902	TRNS2	4575	HP:0007663	Reduced visual acuity
OMIM:276902	TRNS2	4575	HP:0000007	Autosomal recessive inheritance
OMIM:276902	TRNS2	4575	HP:0000510	Rod-cone dystrophy
OMIM:276902	TRNS2	4575	HP:0001123	Visual field defect
OMIM:276902	TRNS2	4575	HP:0001751	Vestibular dysfunction
OMIM:276902	TRNS2	4575	HP:0000407	Sensorineural hearing impairment
OMIM:276902	TRNS2	4575	HP:0000662	Nyctalopia
OMIM:151440	LYL1	4066	HP:0001444	Autosomal dominant somatic cell mutation
OMIM:252930	HGSNAT	138050	HP:0001507	Growth abnormality
OMIM:252930	HGSNAT	138050	HP:0000664	Synophrys
OMIM:252930	HGSNAT	138050	HP:0000365	Hearing impairment
OMIM:252930	HGSNAT	138050	HP:0000752	Hyperactivity
OMIM:252930	HGSNAT	138050	HP:0001387	Joint stiffness
OMIM:252930	HGSNAT	138050	HP:0002015	Dysphagia
OMIM:252930	HGSNAT	138050	HP:0002240	Hepatomegaly
OMIM:252930	HGSNAT	138050	HP:0001249	Intellectual disability
OMIM:252930	HGSNAT	138050	HP:0003653	Cellular metachromasia
OMIM:252930	HGSNAT	138050	HP:0000232	Everted lower lip vermilion
OMIM:252930	HGSNAT	138050	HP:0002014	Diarrhea
OMIM:252930	HGSNAT	138050	HP:0000900	Thickened ribs
OMIM:252930	HGSNAT	138050	HP:0002208	Coarse hair
OMIM:252930	HGSNAT	138050	HP:0000943	Dysostosis multiplex
OMIM:252930	HGSNAT	138050	HP:0002751	Kyphoscoliosis
OMIM:252930	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:252930	HGSNAT	138050	HP:0002788	Recurrent upper respiratory tract infections
OMIM:252930	HGSNAT	138050	HP:0001744	Splenomegaly
OMIM:252930	HGSNAT	138050	HP:0001670	Asymmetric septal hypertrophy
OMIM:252930	HGSNAT	138050	HP:0100790	Hernia
OMIM:252930	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:252930	HGSNAT	138050	HP:0002159	Heparan sulfate excretion in urine
OMIM:252930	HGSNAT	138050	HP:0000280	Coarse facial features
OMIM:252930	HGSNAT	138050	HP:0003309	Ovoid thoracolumbar vertebrae
OMIM:252930	HGSNAT	138050	HP:0000268	Dolichocephaly
OMIM:252930	HGSNAT	138050	HP:0002360	Sleep disturbance
OMIM:252930	HGSNAT	138050	HP:0001007	Hirsutism
OMIM:252930	HGSNAT	138050	HP:0002371	Loss of speech
OMIM:252930	HGSNAT	138050	HP:0001250	Seizures
OMIM:252930	HGSNAT	138050	HP:0001270	Motor delay
OMIM:252930	HGSNAT	138050	HP:0003828	Variable expressivity
OMIM:609536	C5	727	HP:0002041	Intractable diarrhea
OMIM:609536	C5	727	HP:0007569	Generalized seborrheic dermatitis
OMIM:609536	C5	727	HP:0004431	Complement deficiency
OMIM:609536	C5	727	HP:0000007	Autosomal recessive inheritance
OMIM:609536	C5	727	HP:0006946	Recurrent meningitis
OMIM:609536	C5	727	HP:0002719	Recurrent infections
OMIM:609536	C6	729	HP:0002041	Intractable diarrhea
OMIM:609536	C6	729	HP:0007569	Generalized seborrheic dermatitis
OMIM:609536	C6	729	HP:0004431	Complement deficiency
OMIM:609536	C6	729	HP:0000007	Autosomal recessive inheritance
OMIM:609536	C6	729	HP:0006946	Recurrent meningitis
OMIM:609536	C6	729	HP:0002719	Recurrent infections
OMIM:609536	C7	730	HP:0002041	Intractable diarrhea
OMIM:609536	C7	730	HP:0007569	Generalized seborrheic dermatitis
OMIM:609536	C7	730	HP:0004431	Complement deficiency
OMIM:609536	C7	730	HP:0000007	Autosomal recessive inheritance
OMIM:609536	C7	730	HP:0006946	Recurrent meningitis
OMIM:609536	C7	730	HP:0002719	Recurrent infections
OMIM:609536	C8A	731	HP:0002041	Intractable diarrhea
OMIM:609536	C8A	731	HP:0007569	Generalized seborrheic dermatitis
OMIM:609536	C8A	731	HP:0004431	Complement deficiency
OMIM:609536	C8A	731	HP:0000007	Autosomal recessive inheritance
OMIM:609536	C8A	731	HP:0006946	Recurrent meningitis
OMIM:609536	C8A	731	HP:0002719	Recurrent infections
OMIM:609536	C8B	732	HP:0002041	Intractable diarrhea
OMIM:609536	C8B	732	HP:0007569	Generalized seborrheic dermatitis
OMIM:609536	C8B	732	HP:0004431	Complement deficiency
OMIM:609536	C8B	732	HP:0000007	Autosomal recessive inheritance
OMIM:609536	C8B	732	HP:0006946	Recurrent meningitis
OMIM:609536	C8B	732	HP:0002719	Recurrent infections
OMIM:609536	C8G	733	HP:0002041	Intractable diarrhea
OMIM:609536	C8G	733	HP:0007569	Generalized seborrheic dermatitis
OMIM:609536	C8G	733	HP:0004431	Complement deficiency
OMIM:609536	C8G	733	HP:0000007	Autosomal recessive inheritance
OMIM:609536	C8G	733	HP:0006946	Recurrent meningitis
OMIM:609536	C8G	733	HP:0002719	Recurrent infections
OMIM:609536	C9	735	HP:0002041	Intractable diarrhea
OMIM:609536	C9	735	HP:0007569	Generalized seborrheic dermatitis
OMIM:609536	C9	735	HP:0004431	Complement deficiency
OMIM:609536	C9	735	HP:0000007	Autosomal recessive inheritance
OMIM:609536	C9	735	HP:0006946	Recurrent meningitis
OMIM:609536	C9	735	HP:0002719	Recurrent infections
OMIM:214950	AMACR	23600	HP:0200084	Giant cell hepatitis
OMIM:214950	AMACR	23600	HP:0002904	Hyperbilirubinemia
OMIM:214950	AMACR	23600	HP:0002910	Elevated hepatic transaminases
OMIM:214950	AMACR	23600	HP:0002240	Hepatomegaly
OMIM:214950	AMACR	23600	HP:0001406	Intrahepatic cholestasis
OMIM:214950	AMACR	23600	HP:0006579	Prolonged neonatal jaundice
OMIM:214950	AMACR	23600	HP:0000007	Autosomal recessive inheritance
OMIM:214950	AMACR	23600	HP:0001508	Failure to thrive
OMIM:214950	AMACR	23600	HP:0001399	Hepatic failure
OMIM:214950	AMACR	23600	HP:0003256	Abnormality of the coagulation cascade
OMIM:214950	AMACR	23600	HP:0002630	Fat malabsorption
OMIM:214950	AMACR	23600	HP:0003623	Neonatal onset
OMIM:312080	PLP1	5354	HP:0003593	Infantile onset
OMIM:312080	PLP1	5354	HP:0001250	Seizures
OMIM:312080	PLP1	5354	HP:0001252	Muscular hypotonia
OMIM:312080	PLP1	5354	HP:0001260	Dysarthria
OMIM:312080	PLP1	5354	HP:0000252	Microcephaly
OMIM:312080	PLP1	5354	HP:0000365	Hearing impairment
OMIM:312080	PLP1	5354	HP:0001337	Tremor
OMIM:312080	PLP1	5354	HP:0001265	Hyporeflexia
OMIM:312080	PLP1	5354	HP:0002015	Dysphagia
OMIM:312080	PLP1	5354	HP:0001249	Intellectual disability
OMIM:312080	PLP1	5354	HP:0003677	Slow progression
OMIM:312080	PLP1	5354	HP:0000750	Delayed speech and language development
OMIM:312080	PLP1	5354	HP:0000639	Nystagmus
OMIM:312080	PLP1	5354	HP:0000648	Optic atrophy
OMIM:312080	PLP1	5354	HP:0004322	Short stature
OMIM:312080	PLP1	5354	HP:0001263	Global developmental delay
OMIM:312080	PLP1	5354	HP:0001266	Choreoathetosis
OMIM:312080	PLP1	5354	HP:0001419	X-linked recessive inheritance
OMIM:312080	PLP1	5354	HP:0001583	Rotary nystagmus
OMIM:312080	PLP1	5354	HP:0001332	Dystonia
OMIM:312080	PLP1	5354	HP:0007256	Abnormal pyramidal signs
OMIM:312080	PLP1	5354	HP:0001251	Ataxia
OMIM:312080	PLP1	5354	HP:0001508	Failure to thrive
OMIM:600996	RYR2	6262	HP:0011663	Right ventricular cardiomyopathy
OMIM:600996	RYR2	6262	HP:0001699	Sudden death
OMIM:600996	RYR2	6262	HP:0004308	Ventricular arrhythmia
OMIM:604271	GHR	2690	HP:0004322	Short stature
OMIM:600373	LONP1	9361	HP:0001604	Vocal cord paresis
OMIM:600373	LONP1	9361	HP:0001216	Delayed ossification of carpal bones
OMIM:600373	LONP1	9361	HP:0001250	Seizures
OMIM:600373	LONP1	9361	HP:0001629	Ventricular septal defect
OMIM:600373	LONP1	9361	HP:0001561	Polyhydramnios
OMIM:600373	LONP1	9361	HP:0005280	Depressed nasal bridge
OMIM:600373	LONP1	9361	HP:0005792	Short humerus
OMIM:600373	LONP1	9361	HP:0004122	Midline defect of the nose
OMIM:600373	LONP1	9361	HP:0000486	Strabismus
OMIM:600373	LONP1	9361	HP:0006482	Abnormality of dental morphology
OMIM:600373	LONP1	9361	HP:0001631	Atria septal defect
OMIM:600373	LONP1	9361	HP:0002682	Broad skull
OMIM:600373	LONP1	9361	HP:0004322	Short stature
OMIM:600373	LONP1	9361	HP:0001263	Global developmental delay
OMIM:600373	LONP1	9361	HP:0002079	Hypoplasia of the corpus callosum
OMIM:600373	LONP1	9361	HP:0006297	Hypoplasia of dental enamel
OMIM:600373	LONP1	9361	HP:0000463	Anteverted nares
OMIM:600373	LONP1	9361	HP:0000272	Malar flattening
OMIM:600373	LONP1	9361	HP:0003312	Abnormal form of the vertebral bodies
OMIM:600373	LONP1	9361	HP:0000684	Delayed eruption of teeth
OMIM:600373	LONP1	9361	HP:0000396	Overfolded helix
OMIM:600373	LONP1	9361	HP:0003417	Coronal cleft vertebrae
OMIM:600373	LONP1	9361	HP:0000682	Abnormality of dental enamel
OMIM:600373	LONP1	9361	HP:0005930	Abnormality of epiphysis morphology
OMIM:600373	LONP1	9361	HP:0003177	Squared iliac bones
OMIM:600373	LONP1	9361	HP:0009803	Short phalanx of finger
OMIM:600373	LONP1	9361	HP:0000518	Cataract
OMIM:600373	LONP1	9361	HP:0002750	Delayed skeletal maturation
OMIM:600373	LONP1	9361	HP:0009623	Proximal placement of thumb
OMIM:600373	LONP1	9361	HP:0001156	Brachydactyly syndrome
OMIM:600373	LONP1	9361	HP:0001382	Joint hypermobility
OMIM:600373	LONP1	9361	HP:0010049	Short metacarpal
OMIM:600373	LONP1	9361	HP:0001374	Congenital hip dislocation
OMIM:600373	LONP1	9361	HP:0003196	Short nose
OMIM:600373	LONP1	9361	HP:0000519	Congenital cataract
OMIM:600373	LONP1	9361	HP:0003272	Abnormality of the hip bone
OMIM:600373	LONP1	9361	HP:0000407	Sensorineural hearing impairment
OMIM:600373	LONP1	9361	HP:0000143	Rectovaginal fistula
OMIM:600373	LONP1	9361	HP:0001252	Muscular hypotonia
OMIM:600373	LONP1	9361	HP:0000286	Epicanthus
OMIM:600373	LONP1	9361	HP:0003311	Hypoplasia of the odontoid process
OMIM:600373	LONP1	9361	HP:0006695	Atrioventricular canal defect
OMIM:600373	LONP1	9361	HP:0000639	Nystagmus
OMIM:600373	LONP1	9361	HP:0001163	Abnormality of the metacarpal bones
OMIM:600373	LONP1	9361	HP:0010935	Abnormality of the upper urinary tract
OMIM:600373	LONP1	9361	HP:0000007	Autosomal recessive inheritance
OMIM:600373	LONP1	9361	HP:0000508	Ptosis
OMIM:600373	LONP1	9361	HP:0002023	Anal atresia
OMIM:600373	LONP1	9361	HP:0002857	Genu valgum
OMIM:600373	LONP1	9361	HP:0100543	Cognitive impairment
OMIM:600373	LONP1	9361	HP:0000028	Cryptorchidism
OMIM:600373	LONP1	9361	HP:0005242	Extrahepatic biliary duct atresia
OMIM:600373	LONP1	9361	HP:0001539	Omphalocele
OMIM:600373	LONP1	9361	HP:0100255	Metaphyseal dysplasia
OMIM:600373	LONP1	9361	HP:0002650	Scoliosis
OMIM:108985	TEAD1	7003	HP:0007950	Peripapillary chorioretinal atrophy
OMIM:108985	TEAD1	7003	HP:0000545	Myopia
OMIM:108985	TEAD1	7003	HP:0000006	Autosomal dominant inheritance
OMIM:108985	TEAD1	7003	HP:0000483	Astigmatism
OMIM:108985	TEAD1	7003	HP:0003677	Slow progression
OMIM:132800	TGFBR1	7046	HP:0003674	Onset
OMIM:132800	TGFBR1	7046	HP:0000951	Abnormality of the skin
OMIM:132800	TGFBR1	7046	HP:0000006	Autosomal dominant inheritance
OMIM:132800	TGFBR1	7046	HP:0002664	Neoplasm
OMIM:601492	HYAL1	3373	HP:0000951	Abnormality of the skin
OMIM:601492	HYAL1	3373	HP:0000193	Bifid uvula
OMIM:601492	HYAL1	3373	HP:0004322	Short stature
OMIM:601492	HYAL1	3373	HP:0000007	Autosomal recessive inheritance
OMIM:601492	HYAL1	3373	HP:0000403	Recurrent otitis media
OMIM:601492	HYAL1	3373	HP:0005280	Depressed nasal bridge
OMIM:601492	HYAL1	3373	HP:0000176	Submucous cleft hard palate
OMIM:601492	HYAL1	3373	HP:0003170	Abnormality of the acetabulum
OMIM:601492	HYAL1	3373	HP:0002159	Heparan sulfate excretion in urine
OMIM:615414	ASPM	259266	HP:0004322	Short stature
OMIM:615414	ASPM	259266	HP:0000007	Autosomal recessive inheritance
OMIM:615414	ASPM	259266	HP:0000252	Microcephaly
OMIM:615414	MCPH1	79648	HP:0004322	Short stature
OMIM:615414	MCPH1	79648	HP:0000007	Autosomal recessive inheritance
OMIM:615414	MCPH1	79648	HP:0000252	Microcephaly
OMIM:615414	ANKLE2	23141	HP:0004322	Short stature
OMIM:615414	ANKLE2	23141	HP:0000007	Autosomal recessive inheritance
OMIM:615414	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:615414	SASS6	163786	HP:0004322	Short stature
OMIM:615414	SASS6	163786	HP:0000007	Autosomal recessive inheritance
OMIM:615414	SASS6	163786	HP:0000252	Microcephaly
OMIM:615414	CDK5RAP2	55755	HP:0004322	Short stature
OMIM:615414	CDK5RAP2	55755	HP:0000007	Autosomal recessive inheritance
OMIM:615414	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:615414	MFSD2A	84879	HP:0004322	Short stature
OMIM:615414	MFSD2A	84879	HP:0000007	Autosomal recessive inheritance
OMIM:615414	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:615414	CEP152	22995	HP:0004322	Short stature
OMIM:615414	CEP152	22995	HP:0000007	Autosomal recessive inheritance
OMIM:615414	CEP152	22995	HP:0000252	Microcephaly
OMIM:615414	PHC1	1911	HP:0004322	Short stature
OMIM:615414	PHC1	1911	HP:0000007	Autosomal recessive inheritance
OMIM:615414	PHC1	1911	HP:0000252	Microcephaly
OMIM:615414	WDR62	284403	HP:0004322	Short stature
OMIM:615414	WDR62	284403	HP:0000007	Autosomal recessive inheritance
OMIM:615414	WDR62	284403	HP:0000252	Microcephaly
OMIM:615414	CASC5	57082	HP:0004322	Short stature
OMIM:615414	CASC5	57082	HP:0000007	Autosomal recessive inheritance
OMIM:615414	CASC5	57082	HP:0000252	Microcephaly
OMIM:615414	CENPJ	55835	HP:0004322	Short stature
OMIM:615414	CENPJ	55835	HP:0000007	Autosomal recessive inheritance
OMIM:615414	CENPJ	55835	HP:0000252	Microcephaly
OMIM:615414	STIL	6491	HP:0004322	Short stature
OMIM:615414	STIL	6491	HP:0000007	Autosomal recessive inheritance
OMIM:615414	STIL	6491	HP:0000252	Microcephaly
OMIM:615414	CDK6	1021	HP:0004322	Short stature
OMIM:615414	CDK6	1021	HP:0000007	Autosomal recessive inheritance
OMIM:615414	CDK6	1021	HP:0000252	Microcephaly
OMIM:615414	CEP135	9662	HP:0004322	Short stature
OMIM:615414	CEP135	9662	HP:0000007	Autosomal recessive inheritance
OMIM:615414	CEP135	9662	HP:0000252	Microcephaly
OMIM:615414	CEP63	80254	HP:0004322	Short stature
OMIM:615414	CEP63	80254	HP:0000007	Autosomal recessive inheritance
OMIM:615414	CEP63	80254	HP:0000252	Microcephaly
OMIM:613485	CALM1	801	HP:0002204	Pulmonary embolism
OMIM:613485	CALM1	801	HP:0001635	Congestive heart failure
OMIM:613485	CALM1	801	HP:0001677	Coronary artery disease
OMIM:613485	CALM1	801	HP:0000006	Autosomal dominant inheritance
OMIM:613485	CALM1	801	HP:0001657	Prolonged QT interval
OMIM:613485	CALM1	801	HP:0001678	Atrioventricular block
OMIM:613485	CALM1	801	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	CALM1	801	HP:0001695	Cardiac arrest
OMIM:613485	CALM1	801	HP:0000822	Hypertension
OMIM:613485	CALM1	801	HP:0001279	Syncope
OMIM:613485	CALM2	805	HP:0002204	Pulmonary embolism
OMIM:613485	CALM2	805	HP:0001635	Congestive heart failure
OMIM:613485	CALM2	805	HP:0001677	Coronary artery disease
OMIM:613485	CALM2	805	HP:0000006	Autosomal dominant inheritance
OMIM:613485	CALM2	805	HP:0001657	Prolonged QT interval
OMIM:613485	CALM2	805	HP:0001678	Atrioventricular block
OMIM:613485	CALM2	805	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	CALM2	805	HP:0001695	Cardiac arrest
OMIM:613485	CALM2	805	HP:0000822	Hypertension
OMIM:613485	CALM2	805	HP:0001279	Syncope
OMIM:613485	KCNE2	9992	HP:0002204	Pulmonary embolism
OMIM:613485	KCNE2	9992	HP:0001635	Congestive heart failure
OMIM:613485	KCNE2	9992	HP:0001677	Coronary artery disease
OMIM:613485	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:613485	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:613485	KCNE2	9992	HP:0001678	Atrioventricular block
OMIM:613485	KCNE2	9992	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	KCNE2	9992	HP:0001695	Cardiac arrest
OMIM:613485	KCNE2	9992	HP:0000822	Hypertension
OMIM:613485	KCNE2	9992	HP:0001279	Syncope
OMIM:613485	KCNQ1	3784	HP:0002204	Pulmonary embolism
OMIM:613485	KCNQ1	3784	HP:0001635	Congestive heart failure
OMIM:613485	KCNQ1	3784	HP:0001677	Coronary artery disease
OMIM:613485	KCNQ1	3784	HP:0000006	Autosomal dominant inheritance
OMIM:613485	KCNQ1	3784	HP:0001657	Prolonged QT interval
OMIM:613485	KCNQ1	3784	HP:0001678	Atrioventricular block
OMIM:613485	KCNQ1	3784	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	KCNQ1	3784	HP:0001695	Cardiac arrest
OMIM:613485	KCNQ1	3784	HP:0000822	Hypertension
OMIM:613485	KCNQ1	3784	HP:0001279	Syncope
OMIM:613485	KCNE1	3753	HP:0002204	Pulmonary embolism
OMIM:613485	KCNE1	3753	HP:0001635	Congestive heart failure
OMIM:613485	KCNE1	3753	HP:0001677	Coronary artery disease
OMIM:613485	KCNE1	3753	HP:0000006	Autosomal dominant inheritance
OMIM:613485	KCNE1	3753	HP:0001657	Prolonged QT interval
OMIM:613485	KCNE1	3753	HP:0001678	Atrioventricular block
OMIM:613485	KCNE1	3753	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	KCNE1	3753	HP:0001695	Cardiac arrest
OMIM:613485	KCNE1	3753	HP:0000822	Hypertension
OMIM:613485	KCNE1	3753	HP:0001279	Syncope
OMIM:613485	KCNH2	3757	HP:0002204	Pulmonary embolism
OMIM:613485	KCNH2	3757	HP:0001635	Congestive heart failure
OMIM:613485	KCNH2	3757	HP:0001677	Coronary artery disease
OMIM:613485	KCNH2	3757	HP:0000006	Autosomal dominant inheritance
OMIM:613485	KCNH2	3757	HP:0001657	Prolonged QT interval
OMIM:613485	KCNH2	3757	HP:0001678	Atrioventricular block
OMIM:613485	KCNH2	3757	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	KCNH2	3757	HP:0001695	Cardiac arrest
OMIM:613485	KCNH2	3757	HP:0000822	Hypertension
OMIM:613485	KCNH2	3757	HP:0001279	Syncope
OMIM:613485	SNTA1	6640	HP:0002204	Pulmonary embolism
OMIM:613485	SNTA1	6640	HP:0001635	Congestive heart failure
OMIM:613485	SNTA1	6640	HP:0001677	Coronary artery disease
OMIM:613485	SNTA1	6640	HP:0000006	Autosomal dominant inheritance
OMIM:613485	SNTA1	6640	HP:0001657	Prolonged QT interval
OMIM:613485	SNTA1	6640	HP:0001678	Atrioventricular block
OMIM:613485	SNTA1	6640	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	SNTA1	6640	HP:0001695	Cardiac arrest
OMIM:613485	SNTA1	6640	HP:0000822	Hypertension
OMIM:613485	SNTA1	6640	HP:0001279	Syncope
OMIM:613485	KCNJ5	3762	HP:0002204	Pulmonary embolism
OMIM:613485	KCNJ5	3762	HP:0001635	Congestive heart failure
OMIM:613485	KCNJ5	3762	HP:0001677	Coronary artery disease
OMIM:613485	KCNJ5	3762	HP:0000006	Autosomal dominant inheritance
OMIM:613485	KCNJ5	3762	HP:0001657	Prolonged QT interval
OMIM:613485	KCNJ5	3762	HP:0001678	Atrioventricular block
OMIM:613485	KCNJ5	3762	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	KCNJ5	3762	HP:0001695	Cardiac arrest
OMIM:613485	KCNJ5	3762	HP:0000822	Hypertension
OMIM:613485	KCNJ5	3762	HP:0001279	Syncope
OMIM:613485	SCN4B	6330	HP:0002204	Pulmonary embolism
OMIM:613485	SCN4B	6330	HP:0001635	Congestive heart failure
OMIM:613485	SCN4B	6330	HP:0001677	Coronary artery disease
OMIM:613485	SCN4B	6330	HP:0000006	Autosomal dominant inheritance
OMIM:613485	SCN4B	6330	HP:0001657	Prolonged QT interval
OMIM:613485	SCN4B	6330	HP:0001678	Atrioventricular block
OMIM:613485	SCN4B	6330	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	SCN4B	6330	HP:0001695	Cardiac arrest
OMIM:613485	SCN4B	6330	HP:0000822	Hypertension
OMIM:613485	SCN4B	6330	HP:0001279	Syncope
OMIM:613485	NOS1AP	9722	HP:0002204	Pulmonary embolism
OMIM:613485	NOS1AP	9722	HP:0001635	Congestive heart failure
OMIM:613485	NOS1AP	9722	HP:0001677	Coronary artery disease
OMIM:613485	NOS1AP	9722	HP:0000006	Autosomal dominant inheritance
OMIM:613485	NOS1AP	9722	HP:0001657	Prolonged QT interval
OMIM:613485	NOS1AP	9722	HP:0001678	Atrioventricular block
OMIM:613485	NOS1AP	9722	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	NOS1AP	9722	HP:0001695	Cardiac arrest
OMIM:613485	NOS1AP	9722	HP:0000822	Hypertension
OMIM:613485	NOS1AP	9722	HP:0001279	Syncope
OMIM:613485	SCN5A	6331	HP:0002204	Pulmonary embolism
OMIM:613485	SCN5A	6331	HP:0001635	Congestive heart failure
OMIM:613485	SCN5A	6331	HP:0001677	Coronary artery disease
OMIM:613485	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:613485	SCN5A	6331	HP:0001657	Prolonged QT interval
OMIM:613485	SCN5A	6331	HP:0001678	Atrioventricular block
OMIM:613485	SCN5A	6331	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	SCN5A	6331	HP:0001695	Cardiac arrest
OMIM:613485	SCN5A	6331	HP:0000822	Hypertension
OMIM:613485	SCN5A	6331	HP:0001279	Syncope
OMIM:613485	CAV3	859	HP:0002204	Pulmonary embolism
OMIM:613485	CAV3	859	HP:0001635	Congestive heart failure
OMIM:613485	CAV3	859	HP:0001677	Coronary artery disease
OMIM:613485	CAV3	859	HP:0000006	Autosomal dominant inheritance
OMIM:613485	CAV3	859	HP:0001657	Prolonged QT interval
OMIM:613485	CAV3	859	HP:0001678	Atrioventricular block
OMIM:613485	CAV3	859	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	CAV3	859	HP:0001695	Cardiac arrest
OMIM:613485	CAV3	859	HP:0000822	Hypertension
OMIM:613485	CAV3	859	HP:0001279	Syncope
OMIM:613485	AKAP9	10142	HP:0002204	Pulmonary embolism
OMIM:613485	AKAP9	10142	HP:0001635	Congestive heart failure
OMIM:613485	AKAP9	10142	HP:0001677	Coronary artery disease
OMIM:613485	AKAP9	10142	HP:0000006	Autosomal dominant inheritance
OMIM:613485	AKAP9	10142	HP:0001657	Prolonged QT interval
OMIM:613485	AKAP9	10142	HP:0001678	Atrioventricular block
OMIM:613485	AKAP9	10142	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	AKAP9	10142	HP:0001695	Cardiac arrest
OMIM:613485	AKAP9	10142	HP:0000822	Hypertension
OMIM:613485	AKAP9	10142	HP:0001279	Syncope
OMIM:613485	ANK2	287	HP:0002204	Pulmonary embolism
OMIM:613485	ANK2	287	HP:0001635	Congestive heart failure
OMIM:613485	ANK2	287	HP:0001677	Coronary artery disease
OMIM:613485	ANK2	287	HP:0000006	Autosomal dominant inheritance
OMIM:613485	ANK2	287	HP:0001657	Prolonged QT interval
OMIM:613485	ANK2	287	HP:0001678	Atrioventricular block
OMIM:613485	ANK2	287	HP:0004757	Paroxysmal atrial fibrillation
OMIM:613485	ANK2	287	HP:0001695	Cardiac arrest
OMIM:613485	ANK2	287	HP:0000822	Hypertension
OMIM:613485	ANK2	287	HP:0001279	Syncope
OMIM:613470	GPI	2821	HP:0001744	Splenomegaly
OMIM:613470	GPI	2821	HP:0001324	Muscle weakness
OMIM:613470	GPI	2821	HP:0000007	Autosomal recessive inheritance
OMIM:613470	GPI	2821	HP:0001249	Intellectual disability
OMIM:613470	GPI	2821	HP:0000952	Jaundice
OMIM:613470	GPI	2821	HP:0011993	Impaired neutrophil bactericidal activity
OMIM:613470	GPI	2821	HP:0001251	Ataxia
OMIM:613470	GPI	2821	HP:0001082	Cholecystitis
OMIM:600995	NPHS2	7827	HP:0003073	Hypoalbuminemia
OMIM:600995	NPHS2	7827	HP:0000093	Proteinuria
OMIM:600995	NPHS2	7827	HP:0000097	Focal segmental glomerulosclerosis
OMIM:600995	NPHS2	7827	HP:0003678	Rapidly progressive
OMIM:600995	NPHS2	7827	HP:0003077	Hyperlipidemia
OMIM:600995	NPHS2	7827	HP:0000969	Edema
OMIM:600995	NPHS2	7827	HP:0003621	Juvenile onset
OMIM:600995	NPHS2	7827	HP:0000100	Nephrotic syndrome
OMIM:600995	NPHS2	7827	HP:0003774	Stage 5 chronic kidney disease
OMIM:600995	NPHS2	7827	HP:0000007	Autosomal recessive inheritance
OMIM:600995	NPHS2	7827	HP:0003828	Variable expressivity
OMIM:264300	HSD17B3	3293	HP:0000037	Male pseudohermaphroditism
OMIM:264300	HSD17B3	3293	HP:0000144	Decreased fertility
OMIM:264300	HSD17B3	3293	HP:0000821	Hypothyroidism
OMIM:264300	HSD17B3	3293	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:264300	HSD17B3	3293	HP:0000789	Infertility
OMIM:264300	HSD17B3	3293	HP:0000062	Ambiguous genitalia
OMIM:264300	HSD17B3	3293	HP:0000028	Cryptorchidism
OMIM:264300	HSD17B3	3293	HP:0000795	Abnormality of the urethra
OMIM:264300	HSD17B3	3293	HP:0000007	Autosomal recessive inheritance
OMIM:615413	ZMYND15	84225	HP:0000006	Autosomal dominant inheritance
OMIM:615413	ZMYND15	84225	HP:0000789	Infertility
OMIM:615413	ZMYND15	84225	HP:0000027	Azoospermia
OMIM:615413	NR5A1	2516	HP:0000006	Autosomal dominant inheritance
OMIM:615413	NR5A1	2516	HP:0000789	Infertility
OMIM:615413	NR5A1	2516	HP:0000027	Azoospermia
OMIM:615413	CFTR	1080	HP:0000006	Autosomal dominant inheritance
OMIM:615413	CFTR	1080	HP:0000789	Infertility
OMIM:615413	CFTR	1080	HP:0000027	Azoospermia
OMIM:615413	NANOS1	340719	HP:0000006	Autosomal dominant inheritance
OMIM:615413	NANOS1	340719	HP:0000789	Infertility
OMIM:615413	NANOS1	340719	HP:0000027	Azoospermia
OMIM:615413	SOHLH1	402381	HP:0000006	Autosomal dominant inheritance
OMIM:615413	SOHLH1	402381	HP:0000789	Infertility
OMIM:615413	SOHLH1	402381	HP:0000027	Azoospermia
OMIM:615413	TAF4B	6875	HP:0000006	Autosomal dominant inheritance
OMIM:615413	TAF4B	6875	HP:0000789	Infertility
OMIM:615413	TAF4B	6875	HP:0000027	Azoospermia
OMIM:615413	TEX11	56159	HP:0000006	Autosomal dominant inheritance
OMIM:615413	TEX11	56159	HP:0000789	Infertility
OMIM:615413	TEX11	56159	HP:0000027	Azoospermia
OMIM:300009	CLCN5	1184	HP:0000121	Nephrocalcinosis
OMIM:300009	CLCN5	1184	HP:0002979	Bowing of the legs
OMIM:300009	CLCN5	1184	HP:0002653	Bone pain
OMIM:300009	CLCN5	1184	HP:0012622	Chronic kidney disease
OMIM:300009	CLCN5	1184	HP:0004322	Short stature
OMIM:300009	CLCN5	1184	HP:0002980	Femoral bowing
OMIM:300009	CLCN5	1184	HP:0002150	Hypercalciuria
OMIM:300009	CLCN5	1184	HP:0002982	Tibial bowing
OMIM:300009	CLCN5	1184	HP:0003025	Metaphyseal irregularity
OMIM:300009	CLCN5	1184	HP:0000787	Nephrolithiasis
OMIM:300009	CLCN5	1184	HP:0003355	Aminoaciduria
OMIM:300009	CLCN5	1184	HP:0002148	Hypophosphatemia
OMIM:300009	CLCN5	1184	HP:0003812	Phenotypic variability
OMIM:300009	CLCN5	1184	HP:0002757	Recurrent fractures
OMIM:300009	CLCN5	1184	HP:0002663	Delayed epiphyseal ossification
OMIM:300009	CLCN5	1184	HP:0001419	X-linked recessive inheritance
OMIM:274700	SLC5A5	6528	HP:0000007	Autosomal recessive inheritance
OMIM:274700	SLC5A5	6528	HP:0000853	Goiter
OMIM:274700	SLC5A5	6528	HP:0002890	Thyroid carcinoma
OMIM:274700	SLC5A5	6528	HP:0001249	Intellectual disability
OMIM:274700	TPO	7173	HP:0000007	Autosomal recessive inheritance
OMIM:274700	TPO	7173	HP:0000853	Goiter
OMIM:274700	TPO	7173	HP:0002890	Thyroid carcinoma
OMIM:274700	TPO	7173	HP:0001249	Intellectual disability
OMIM:274700	DUOX2	50506	HP:0000007	Autosomal recessive inheritance
OMIM:274700	DUOX2	50506	HP:0000853	Goiter
OMIM:274700	DUOX2	50506	HP:0002890	Thyroid carcinoma
OMIM:274700	DUOX2	50506	HP:0001249	Intellectual disability
OMIM:274700	TG	7038	HP:0000007	Autosomal recessive inheritance
OMIM:274700	TG	7038	HP:0000853	Goiter
OMIM:274700	TG	7038	HP:0002890	Thyroid carcinoma
OMIM:274700	TG	7038	HP:0001249	Intellectual disability
OMIM:274700	DUOXA2	405753	HP:0000007	Autosomal recessive inheritance
OMIM:274700	DUOXA2	405753	HP:0000853	Goiter
OMIM:274700	DUOXA2	405753	HP:0002890	Thyroid carcinoma
OMIM:274700	DUOXA2	405753	HP:0001249	Intellectual disability
OMIM:274700	IYD	389434	HP:0000007	Autosomal recessive inheritance
OMIM:274700	IYD	389434	HP:0000853	Goiter
OMIM:274700	IYD	389434	HP:0002890	Thyroid carcinoma
OMIM:274700	IYD	389434	HP:0001249	Intellectual disability
OMIM:162350	DNAJC5	80331	HP:0001336	Myoclonus
OMIM:162350	DNAJC5	80331	HP:0003581	Adult onset
OMIM:162350	DNAJC5	80331	HP:0002367	Visual hallucinations
OMIM:162350	DNAJC5	80331	HP:0001251	Ataxia
OMIM:162350	DNAJC5	80331	HP:0000726	Dementia
OMIM:162350	DNAJC5	80331	HP:0000006	Autosomal dominant inheritance
OMIM:162350	DNAJC5	80331	HP:0001250	Seizures
OMIM:162350	DNAJC5	80331	HP:0000716	Depression
OMIM:162350	DNAJC5	80331	HP:0003678	Rapidly progressive
OMIM:162350	DNAJC5	80331	HP:0001300	Parkinsonism
OMIM:612649	DNAAF2	55172	HP:0004322	Short stature
OMIM:612649	DNAAF2	55172	HP:0012262	Abnormal ciliary motility
OMIM:612649	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:612649	DNAAF2	55172	HP:0011108	Recurrent sinusitis
OMIM:612649	DNAAF2	55172	HP:0003546	Exercise intolerance
OMIM:612649	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:612649	CCNO	10309	HP:0004322	Short stature
OMIM:612649	CCNO	10309	HP:0012262	Abnormal ciliary motility
OMIM:612649	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:612649	CCNO	10309	HP:0011108	Recurrent sinusitis
OMIM:612649	CCNO	10309	HP:0003546	Exercise intolerance
OMIM:612649	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:612649	DNAAF5	54919	HP:0004322	Short stature
OMIM:612649	DNAAF5	54919	HP:0012262	Abnormal ciliary motility
OMIM:612649	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:612649	DNAAF5	54919	HP:0011108	Recurrent sinusitis
OMIM:612649	DNAAF5	54919	HP:0003546	Exercise intolerance
OMIM:612649	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:612649	DNAAF3	352909	HP:0004322	Short stature
OMIM:612649	DNAAF3	352909	HP:0012262	Abnormal ciliary motility
OMIM:612649	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:612649	DNAAF3	352909	HP:0011108	Recurrent sinusitis
OMIM:612649	DNAAF3	352909	HP:0003546	Exercise intolerance
OMIM:612649	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:612649	DNAI1	27019	HP:0004322	Short stature
OMIM:612649	DNAI1	27019	HP:0012262	Abnormal ciliary motility
OMIM:612649	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:612649	DNAI1	27019	HP:0011108	Recurrent sinusitis
OMIM:612649	DNAI1	27019	HP:0003546	Exercise intolerance
OMIM:612649	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:612649	DRC1	92749	HP:0004322	Short stature
OMIM:612649	DRC1	92749	HP:0012262	Abnormal ciliary motility
OMIM:612649	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:612649	DRC1	92749	HP:0011108	Recurrent sinusitis
OMIM:612649	DRC1	92749	HP:0003546	Exercise intolerance
OMIM:612649	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:612649	SPAG1	6674	HP:0004322	Short stature
OMIM:612649	SPAG1	6674	HP:0012262	Abnormal ciliary motility
OMIM:612649	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:612649	SPAG1	6674	HP:0011108	Recurrent sinusitis
OMIM:612649	SPAG1	6674	HP:0003546	Exercise intolerance
OMIM:612649	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:612649	RSPH3	83861	HP:0004322	Short stature
OMIM:612649	RSPH3	83861	HP:0012262	Abnormal ciliary motility
OMIM:612649	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:612649	RSPH3	83861	HP:0011108	Recurrent sinusitis
OMIM:612649	RSPH3	83861	HP:0003546	Exercise intolerance
OMIM:612649	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:612649	RPGR	6103	HP:0004322	Short stature
OMIM:612649	RPGR	6103	HP:0012262	Abnormal ciliary motility
OMIM:612649	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:612649	RPGR	6103	HP:0011108	Recurrent sinusitis
OMIM:612649	RPGR	6103	HP:0003546	Exercise intolerance
OMIM:612649	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:612649	LRRC6	23639	HP:0004322	Short stature
OMIM:612649	LRRC6	23639	HP:0012262	Abnormal ciliary motility
OMIM:612649	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:612649	LRRC6	23639	HP:0011108	Recurrent sinusitis
OMIM:612649	LRRC6	23639	HP:0003546	Exercise intolerance
OMIM:612649	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:612649	DNAL1	83544	HP:0004322	Short stature
OMIM:612649	DNAL1	83544	HP:0012262	Abnormal ciliary motility
OMIM:612649	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:612649	DNAL1	83544	HP:0011108	Recurrent sinusitis
OMIM:612649	DNAL1	83544	HP:0003546	Exercise intolerance
OMIM:612649	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:612649	ARMC4	55130	HP:0004322	Short stature
OMIM:612649	ARMC4	55130	HP:0012262	Abnormal ciliary motility
OMIM:612649	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:612649	ARMC4	55130	HP:0011108	Recurrent sinusitis
OMIM:612649	ARMC4	55130	HP:0003546	Exercise intolerance
OMIM:612649	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:612649	CCDC103	388389	HP:0004322	Short stature
OMIM:612649	CCDC103	388389	HP:0012262	Abnormal ciliary motility
OMIM:612649	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:612649	CCDC103	388389	HP:0011108	Recurrent sinusitis
OMIM:612649	CCDC103	388389	HP:0003546	Exercise intolerance
OMIM:612649	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:612649	OFD1	8481	HP:0004322	Short stature
OMIM:612649	OFD1	8481	HP:0012262	Abnormal ciliary motility
OMIM:612649	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:612649	OFD1	8481	HP:0011108	Recurrent sinusitis
OMIM:612649	OFD1	8481	HP:0003546	Exercise intolerance
OMIM:612649	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:612649	DNAAF1	123872	HP:0004322	Short stature
OMIM:612649	DNAAF1	123872	HP:0012262	Abnormal ciliary motility
OMIM:612649	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:612649	DNAAF1	123872	HP:0011108	Recurrent sinusitis
OMIM:612649	DNAAF1	123872	HP:0003546	Exercise intolerance
OMIM:612649	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:612649	RSPH4A	345895	HP:0004322	Short stature
OMIM:612649	RSPH4A	345895	HP:0012262	Abnormal ciliary motility
OMIM:612649	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:612649	RSPH4A	345895	HP:0011108	Recurrent sinusitis
OMIM:612649	RSPH4A	345895	HP:0003546	Exercise intolerance
OMIM:612649	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:612649	RSPH1	89765	HP:0004322	Short stature
OMIM:612649	RSPH1	89765	HP:0012262	Abnormal ciliary motility
OMIM:612649	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:612649	RSPH1	89765	HP:0011108	Recurrent sinusitis
OMIM:612649	RSPH1	89765	HP:0003546	Exercise intolerance
OMIM:612649	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:612649	ZMYND10	51364	HP:0004322	Short stature
OMIM:612649	ZMYND10	51364	HP:0012262	Abnormal ciliary motility
OMIM:612649	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:612649	ZMYND10	51364	HP:0011108	Recurrent sinusitis
OMIM:612649	ZMYND10	51364	HP:0003546	Exercise intolerance
OMIM:612649	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:612649	DNAH5	1767	HP:0004322	Short stature
OMIM:612649	DNAH5	1767	HP:0012262	Abnormal ciliary motility
OMIM:612649	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:612649	DNAH5	1767	HP:0011108	Recurrent sinusitis
OMIM:612649	DNAH5	1767	HP:0003546	Exercise intolerance
OMIM:612649	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:612649	CCDC65	85478	HP:0004322	Short stature
OMIM:612649	CCDC65	85478	HP:0012262	Abnormal ciliary motility
OMIM:612649	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:612649	CCDC65	85478	HP:0011108	Recurrent sinusitis
OMIM:612649	CCDC65	85478	HP:0003546	Exercise intolerance
OMIM:612649	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:612649	C21ORF59	56683	HP:0004322	Short stature
OMIM:612649	C21ORF59	56683	HP:0012262	Abnormal ciliary motility
OMIM:612649	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:612649	C21ORF59	56683	HP:0011108	Recurrent sinusitis
OMIM:612649	C21ORF59	56683	HP:0003546	Exercise intolerance
OMIM:612649	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:612649	DYX1C1	161582	HP:0004322	Short stature
OMIM:612649	DYX1C1	161582	HP:0012262	Abnormal ciliary motility
OMIM:612649	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:612649	DYX1C1	161582	HP:0011108	Recurrent sinusitis
OMIM:612649	DYX1C1	161582	HP:0003546	Exercise intolerance
OMIM:612649	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:612649	CCDC151	115948	HP:0004322	Short stature
OMIM:612649	CCDC151	115948	HP:0012262	Abnormal ciliary motility
OMIM:612649	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:612649	CCDC151	115948	HP:0011108	Recurrent sinusitis
OMIM:612649	CCDC151	115948	HP:0003546	Exercise intolerance
OMIM:612649	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:612649	RSPH9	221421	HP:0004322	Short stature
OMIM:612649	RSPH9	221421	HP:0012262	Abnormal ciliary motility
OMIM:612649	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:612649	RSPH9	221421	HP:0011108	Recurrent sinusitis
OMIM:612649	RSPH9	221421	HP:0003546	Exercise intolerance
OMIM:612649	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:612649	CCDC39	339829	HP:0004322	Short stature
OMIM:612649	CCDC39	339829	HP:0012262	Abnormal ciliary motility
OMIM:612649	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:612649	CCDC39	339829	HP:0011108	Recurrent sinusitis
OMIM:612649	CCDC39	339829	HP:0003546	Exercise intolerance
OMIM:612649	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:612649	HYDIN	54768	HP:0004322	Short stature
OMIM:612649	HYDIN	54768	HP:0012262	Abnormal ciliary motility
OMIM:612649	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:612649	HYDIN	54768	HP:0011108	Recurrent sinusitis
OMIM:612649	HYDIN	54768	HP:0003546	Exercise intolerance
OMIM:612649	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:612649	CCDC114	93233	HP:0004322	Short stature
OMIM:612649	CCDC114	93233	HP:0012262	Abnormal ciliary motility
OMIM:612649	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:612649	CCDC114	93233	HP:0011108	Recurrent sinusitis
OMIM:612649	CCDC114	93233	HP:0003546	Exercise intolerance
OMIM:612649	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:612649	NME8	51314	HP:0004322	Short stature
OMIM:612649	NME8	51314	HP:0012262	Abnormal ciliary motility
OMIM:612649	NME8	51314	HP:0002110	Bronchiectasis
OMIM:612649	NME8	51314	HP:0011108	Recurrent sinusitis
OMIM:612649	NME8	51314	HP:0003546	Exercise intolerance
OMIM:612649	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:612649	CCDC40	55036	HP:0004322	Short stature
OMIM:612649	CCDC40	55036	HP:0012262	Abnormal ciliary motility
OMIM:612649	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:612649	CCDC40	55036	HP:0011108	Recurrent sinusitis
OMIM:612649	CCDC40	55036	HP:0003546	Exercise intolerance
OMIM:612649	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:612649	DNAH11	8701	HP:0004322	Short stature
OMIM:612649	DNAH11	8701	HP:0012262	Abnormal ciliary motility
OMIM:612649	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:612649	DNAH11	8701	HP:0011108	Recurrent sinusitis
OMIM:612649	DNAH11	8701	HP:0003546	Exercise intolerance
OMIM:612649	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:612649	DNAI2	64446	HP:0004322	Short stature
OMIM:612649	DNAI2	64446	HP:0012262	Abnormal ciliary motility
OMIM:612649	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:612649	DNAI2	64446	HP:0011108	Recurrent sinusitis
OMIM:612649	DNAI2	64446	HP:0003546	Exercise intolerance
OMIM:612649	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:612649	GAS8	2622	HP:0004322	Short stature
OMIM:612649	GAS8	2622	HP:0012262	Abnormal ciliary motility
OMIM:612649	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:612649	GAS8	2622	HP:0011108	Recurrent sinusitis
OMIM:612649	GAS8	2622	HP:0003546	Exercise intolerance
OMIM:612649	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:614229	SYT14	255928	HP:0007772	Impaired smooth pursuit
OMIM:614229	SYT14	255928	HP:0001272	Cerebellar atrophy
OMIM:614229	SYT14	255928	HP:0000007	Autosomal recessive inheritance
OMIM:614229	SYT14	255928	HP:0000639	Nystagmus
OMIM:614229	SYT14	255928	HP:0002078	Truncal ataxia
OMIM:614229	SYT14	255928	HP:0001260	Dysarthria
OMIM:614229	SYT14	255928	HP:0002015	Dysphagia
OMIM:614229	SYT14	255928	HP:0002070	Limb ataxia
OMIM:614229	SYT14	255928	HP:0003677	Slow progression
OMIM:300958	DDX3X	1654	HP:0001252	Muscular hypotonia
OMIM:300958	DDX3X	1654	HP:0001249	Intellectual disability
OMIM:300958	DDX3X	1654	HP:0000826	Precocious puberty
OMIM:300958	DDX3X	1654	HP:0000204	Cleft upper lip
OMIM:300958	DDX3X	1654	HP:0000718	Aggressive behavior
OMIM:300958	DDX3X	1654	HP:0004325	Decreased body weight
OMIM:300958	DDX3X	1654	HP:0000365	Hearing impairment
OMIM:300958	DDX3X	1654	HP:0000175	Cleft palate
OMIM:300958	DDX3X	1654	HP:0002079	Hypoplasia of the corpus callosum
OMIM:300958	DDX3X	1654	HP:0001999	Abnormal facial shape
OMIM:300958	DDX3X	1654	HP:0000252	Microcephaly
OMIM:300958	DDX3X	1654	HP:0002650	Scoliosis
OMIM:300958	DDX3X	1654	HP:0001257	Spasticity
OMIM:300958	DDX3X	1654	HP:0001250	Seizures
OMIM:300958	DDX3X	1654	HP:0100660	Dyskinesia
OMIM:300958	DDX3X	1654	HP:0000752	Hyperactivity
OMIM:300958	DDX3X	1654	HP:0002119	Ventriculomegaly
OMIM:613471	LBR	3930	HP:0000934	Chondrocalcinosis
OMIM:613471	LBR	3930	HP:0001744	Splenomegaly
OMIM:613471	LBR	3930	HP:0001097	Keratoconjunctivitis sicca
OMIM:613471	LBR	3930	HP:0200042	Skin ulcer
OMIM:613471	LBR	3930	HP:0000952	Jaundice
OMIM:613471	LBR	3930	HP:0002613	Biliary cirrhosis
OMIM:613471	LBR	3930	HP:0002240	Hepatomegaly
OMIM:613471	LBR	3930	HP:0001063	Acrocyanosis
OMIM:613471	LBR	3930	HP:0002239	Gastrointestinal hemorrhage
OMIM:613471	LBR	3930	HP:0004295	Abnormality of the gastric mucosa
OMIM:613471	LBR	3930	HP:0004370	Abnormality of temperature regulation
OMIM:613471	LBR	3930	HP:0100679	Lack of skin elasticity
OMIM:613471	LBR	3930	HP:0001541	Ascites
OMIM:613471	LBR	3930	HP:0008872	Feeding difficulties in infancy
OMIM:613471	LBR	3930	HP:0000217	Xerostomia
OMIM:613471	LBR	3930	HP:0100585	Telangiectasia of the skin
OMIM:613471	LBR	3930	HP:0001369	Arthritis
OMIM:613471	LBR	3930	HP:0000989	Pruritus
OMIM:613471	LBR	3930	HP:0003761	Calcinosis
OMIM:613471	LBR	3930	HP:0002910	Elevated hepatic transaminases
OMIM:613471	LBR	3930	HP:0007400	Irregular hyperpigmentation
OMIM:613471	LBR	3930	HP:0002904	Hyperbilirubinemia
OMIM:613471	LBR	3930	HP:0002383	Encephalitis
OMIM:613471	LBR	3930	HP:0003326	Myalgia
OMIM:613471	LBR	3930	HP:0000988	Skin rash
OMIM:613471	LBR	3930	HP:0002570	Steatorrhea
OMIM:613471	LBR	3930	HP:0001394	Cirrhosis
OMIM:613471	LBR	3930	HP:0002093	Respiratory insufficiency
OMIM:613471	LBR	3930	HP:0000006	Autosomal dominant inheritance
OMIM:114580	IL17RC	84818	HP:0000818	Abnormality of the endocrine system
OMIM:114580	IL17RC	84818	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:114580	IL17RC	84818	HP:0002965	Cutaneous anergy
OMIM:114580	IL17RC	84818	HP:0004429	Recurrent viral infections
OMIM:114580	IL17RC	84818	HP:0001596	Alopecia
OMIM:114580	IL17RC	84818	HP:0000006	Autosomal dominant inheritance
OMIM:114580	STAT1	6772	HP:0000818	Abnormality of the endocrine system
OMIM:114580	STAT1	6772	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:114580	STAT1	6772	HP:0002965	Cutaneous anergy
OMIM:114580	STAT1	6772	HP:0004429	Recurrent viral infections
OMIM:114580	STAT1	6772	HP:0001596	Alopecia
OMIM:114580	STAT1	6772	HP:0000006	Autosomal dominant inheritance
OMIM:114580	CLEC7A	64581	HP:0000818	Abnormality of the endocrine system
OMIM:114580	CLEC7A	64581	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:114580	CLEC7A	64581	HP:0002965	Cutaneous anergy
OMIM:114580	CLEC7A	64581	HP:0004429	Recurrent viral infections
OMIM:114580	CLEC7A	64581	HP:0001596	Alopecia
OMIM:114580	CLEC7A	64581	HP:0000006	Autosomal dominant inheritance
OMIM:114580	IL17RA	23765	HP:0000818	Abnormality of the endocrine system
OMIM:114580	IL17RA	23765	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:114580	IL17RA	23765	HP:0002965	Cutaneous anergy
OMIM:114580	IL17RA	23765	HP:0004429	Recurrent viral infections
OMIM:114580	IL17RA	23765	HP:0001596	Alopecia
OMIM:114580	IL17RA	23765	HP:0000006	Autosomal dominant inheritance
OMIM:114580	TRAF3IP2	10758	HP:0000818	Abnormality of the endocrine system
OMIM:114580	TRAF3IP2	10758	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:114580	TRAF3IP2	10758	HP:0002965	Cutaneous anergy
OMIM:114580	TRAF3IP2	10758	HP:0004429	Recurrent viral infections
OMIM:114580	TRAF3IP2	10758	HP:0001596	Alopecia
OMIM:114580	TRAF3IP2	10758	HP:0000006	Autosomal dominant inheritance
OMIM:114580	IL17F	112744	HP:0000818	Abnormality of the endocrine system
OMIM:114580	IL17F	112744	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:114580	IL17F	112744	HP:0002965	Cutaneous anergy
OMIM:114580	IL17F	112744	HP:0004429	Recurrent viral infections
OMIM:114580	IL17F	112744	HP:0001596	Alopecia
OMIM:114580	IL17F	112744	HP:0000006	Autosomal dominant inheritance
OMIM:114580	CARD9	64170	HP:0000818	Abnormality of the endocrine system
OMIM:114580	CARD9	64170	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:114580	CARD9	64170	HP:0002965	Cutaneous anergy
OMIM:114580	CARD9	64170	HP:0004429	Recurrent viral infections
OMIM:114580	CARD9	64170	HP:0001596	Alopecia
OMIM:114580	CARD9	64170	HP:0000006	Autosomal dominant inheritance
OMIM:606068	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:606068	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:606068	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:606068	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:606068	RLBP1	6017	HP:0001133	Constriction of peripheral visual field
OMIM:606068	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:606068	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:606068	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:606068	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:606068	SPATA7	55812	HP:0001133	Constriction of peripheral visual field
OMIM:606068	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:606068	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:606068	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:606068	ARL6	84100	HP:0000662	Nyctalopia
OMIM:606068	ARL6	84100	HP:0001133	Constriction of peripheral visual field
OMIM:606068	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:606068	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:606068	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:606068	CERKL	375298	HP:0000662	Nyctalopia
OMIM:606068	CERKL	375298	HP:0001133	Constriction of peripheral visual field
OMIM:606068	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:606068	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:606068	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:606068	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:606068	PRPF31	26121	HP:0001133	Constriction of peripheral visual field
OMIM:606068	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:606068	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:606068	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:606068	TTC8	123016	HP:0000662	Nyctalopia
OMIM:606068	TTC8	123016	HP:0001133	Constriction of peripheral visual field
OMIM:606068	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:606068	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:606068	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:606068	PROM1	8842	HP:0000662	Nyctalopia
OMIM:606068	PROM1	8842	HP:0001133	Constriction of peripheral visual field
OMIM:606068	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:606068	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:606068	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:606068	LRAT	9227	HP:0000662	Nyctalopia
OMIM:606068	LRAT	9227	HP:0001133	Constriction of peripheral visual field
OMIM:606068	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:606068	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:606068	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:606068	IFT140	9742	HP:0000662	Nyctalopia
OMIM:606068	IFT140	9742	HP:0001133	Constriction of peripheral visual field
OMIM:606068	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:606068	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:606068	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:606068	BEST1	7439	HP:0000662	Nyctalopia
OMIM:606068	BEST1	7439	HP:0001133	Constriction of peripheral visual field
OMIM:606068	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:606068	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:606068	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:606068	NEK2	4751	HP:0000662	Nyctalopia
OMIM:606068	NEK2	4751	HP:0001133	Constriction of peripheral visual field
OMIM:606068	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:606068	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:606068	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:606068	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:606068	ARL2BP	23568	HP:0001133	Constriction of peripheral visual field
OMIM:606068	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:606068	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:606068	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:606068	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:606068	NR2E3	10002	HP:0001133	Constriction of peripheral visual field
OMIM:606068	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:606068	EYS	346007	HP:0000543	Optic disc pallor
OMIM:606068	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:606068	EYS	346007	HP:0000662	Nyctalopia
OMIM:606068	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:606068	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:606068	MAK	4117	HP:0000543	Optic disc pallor
OMIM:606068	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:606068	MAK	4117	HP:0000662	Nyctalopia
OMIM:606068	MAK	4117	HP:0001133	Constriction of peripheral visual field
OMIM:606068	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:606068	SAG	6295	HP:0000543	Optic disc pallor
OMIM:606068	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:606068	SAG	6295	HP:0000662	Nyctalopia
OMIM:606068	SAG	6295	HP:0001133	Constriction of peripheral visual field
OMIM:606068	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:606068	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:606068	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:606068	ABCA4	24	HP:0000662	Nyctalopia
OMIM:606068	ABCA4	24	HP:0001133	Constriction of peripheral visual field
OMIM:606068	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:606068	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:606068	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:606068	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:606068	PDE6A	5145	HP:0001133	Constriction of peripheral visual field
OMIM:606068	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:606068	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:606068	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:606068	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:606068	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:606068	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:606068	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:606068	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:606068	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:606068	IMPDH1	3614	HP:0001133	Constriction of peripheral visual field
OMIM:606068	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:606068	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:606068	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:606068	OFD1	8481	HP:0000662	Nyctalopia
OMIM:606068	OFD1	8481	HP:0001133	Constriction of peripheral visual field
OMIM:606068	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:606068	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:606068	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:606068	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:606068	GUCA1B	2979	HP:0001133	Constriction of peripheral visual field
OMIM:606068	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:606068	NRL	4901	HP:0000543	Optic disc pallor
OMIM:606068	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:606068	NRL	4901	HP:0000662	Nyctalopia
OMIM:606068	NRL	4901	HP:0001133	Constriction of peripheral visual field
OMIM:606068	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:606068	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:606068	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:606068	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:606068	PDE6B	5158	HP:0001133	Constriction of peripheral visual field
OMIM:606068	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:606068	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:606068	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:606068	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:606068	KLHL7	55975	HP:0001133	Constriction of peripheral visual field
OMIM:606068	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:606068	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:606068	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:606068	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:606068	PRPF4	9128	HP:0001133	Constriction of peripheral visual field
OMIM:606068	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:606068	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:606068	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:606068	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:606068	PRPF3	9129	HP:0001133	Constriction of peripheral visual field
OMIM:606068	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:606068	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:606068	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:606068	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:606068	FAM161A	84140	HP:0001133	Constriction of peripheral visual field
OMIM:606068	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:606068	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:606068	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:606068	IFT172	26160	HP:0000662	Nyctalopia
OMIM:606068	IFT172	26160	HP:0001133	Constriction of peripheral visual field
OMIM:606068	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:606068	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:606068	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:606068	KIZ	55857	HP:0000662	Nyctalopia
OMIM:606068	KIZ	55857	HP:0001133	Constriction of peripheral visual field
OMIM:606068	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:606068	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:606068	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:606068	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:606068	CDHR1	92211	HP:0001133	Constriction of peripheral visual field
OMIM:606068	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:606068	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:606068	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:606068	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:606068	ZNF408	79797	HP:0001133	Constriction of peripheral visual field
OMIM:606068	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:606068	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:606068	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:606068	RBP3	5949	HP:0000662	Nyctalopia
OMIM:606068	RBP3	5949	HP:0001133	Constriction of peripheral visual field
OMIM:606068	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:606068	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:606068	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:606068	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:606068	HGSNAT	138050	HP:0001133	Constriction of peripheral visual field
OMIM:606068	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:606068	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:606068	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:606068	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:606068	FSCN2	25794	HP:0001133	Constriction of peripheral visual field
OMIM:606068	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:606068	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:606068	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:606068	PRCD	768206	HP:0000662	Nyctalopia
OMIM:606068	PRCD	768206	HP:0001133	Constriction of peripheral visual field
OMIM:606068	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:606068	BBS2	583	HP:0000543	Optic disc pallor
OMIM:606068	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:606068	BBS2	583	HP:0000662	Nyctalopia
OMIM:606068	BBS2	583	HP:0001133	Constriction of peripheral visual field
OMIM:606068	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:606068	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:606068	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:606068	RDH12	145226	HP:0000662	Nyctalopia
OMIM:606068	RDH12	145226	HP:0001133	Constriction of peripheral visual field
OMIM:606068	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:606068	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:606068	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:606068	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:606068	PRPH2	5961	HP:0001133	Constriction of peripheral visual field
OMIM:606068	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:606068	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:606068	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:606068	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:606068	DHDDS	79947	HP:0001133	Constriction of peripheral visual field
OMIM:606068	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:606068	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:606068	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:606068	ROM1	6094	HP:0000662	Nyctalopia
OMIM:606068	ROM1	6094	HP:0001133	Constriction of peripheral visual field
OMIM:606068	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:606068	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:606068	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:606068	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:606068	C2ORF71	388939	HP:0001133	Constriction of peripheral visual field
OMIM:606068	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:606068	RP9	6100	HP:0000543	Optic disc pallor
OMIM:606068	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:606068	RP9	6100	HP:0000662	Nyctalopia
OMIM:606068	RP9	6100	HP:0001133	Constriction of peripheral visual field
OMIM:606068	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:606068	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:606068	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:606068	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:606068	PRPF6	24148	HP:0001133	Constriction of peripheral visual field
OMIM:606068	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:606068	RP1	6101	HP:0000543	Optic disc pallor
OMIM:606068	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:606068	RP1	6101	HP:0000662	Nyctalopia
OMIM:606068	RP1	6101	HP:0001133	Constriction of peripheral visual field
OMIM:606068	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:606068	RP2	6102	HP:0000543	Optic disc pallor
OMIM:606068	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:606068	RP2	6102	HP:0000662	Nyctalopia
OMIM:606068	RP2	6102	HP:0001133	Constriction of peripheral visual field
OMIM:606068	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:606068	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:606068	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:606068	RPGR	6103	HP:0000662	Nyctalopia
OMIM:606068	RPGR	6103	HP:0001133	Constriction of peripheral visual field
OMIM:606068	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:606068	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:606068	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:606068	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:606068	SEMA4A	64218	HP:0001133	Constriction of peripheral visual field
OMIM:606068	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:606068	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:606068	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:606068	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:606068	C8ORF37	157657	HP:0001133	Constriction of peripheral visual field
OMIM:606068	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:606068	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:606068	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:606068	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:606068	IDH3B	3420	HP:0001133	Constriction of peripheral visual field
OMIM:606068	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:606068	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:606068	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:606068	MERTK	10461	HP:0000662	Nyctalopia
OMIM:606068	MERTK	10461	HP:0001133	Constriction of peripheral visual field
OMIM:606068	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:606068	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:606068	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:606068	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:606068	PRPF8	10594	HP:0001133	Constriction of peripheral visual field
OMIM:606068	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:606068	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:606068	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:606068	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:606068	TOPORS	10210	HP:0001133	Constriction of peripheral visual field
OMIM:606068	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:606068	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:606068	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:606068	USH2A	7399	HP:0000662	Nyctalopia
OMIM:606068	USH2A	7399	HP:0001133	Constriction of peripheral visual field
OMIM:606068	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:606068	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:606068	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:606068	RPE65	6121	HP:0000662	Nyctalopia
OMIM:606068	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:606068	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:606068	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:606068	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:606068	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:606068	CLRN1	7401	HP:0001133	Constriction of peripheral visual field
OMIM:606068	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:606068	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:606068	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:606068	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:606068	CNGB1	1258	HP:0001133	Constriction of peripheral visual field
OMIM:606068	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:606068	RGR	5995	HP:0000543	Optic disc pallor
OMIM:606068	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:606068	RGR	5995	HP:0000662	Nyctalopia
OMIM:606068	RGR	5995	HP:0001133	Constriction of peripheral visual field
OMIM:606068	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:606068	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:606068	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:606068	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:606068	CNGA1	1259	HP:0001133	Constriction of peripheral visual field
OMIM:606068	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:606068	TUB	7275	HP:0000543	Optic disc pallor
OMIM:606068	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:606068	TUB	7275	HP:0000662	Nyctalopia
OMIM:606068	TUB	7275	HP:0001133	Constriction of peripheral visual field
OMIM:606068	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:606068	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:606068	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:606068	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:606068	SNRNP200	23020	HP:0001133	Constriction of peripheral visual field
OMIM:606068	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:606068	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:606068	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:606068	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:606068	SLC7A14	57709	HP:0001133	Constriction of peripheral visual field
OMIM:606068	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:606068	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:606068	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:606068	TULP1	7287	HP:0000662	Nyctalopia
OMIM:606068	TULP1	7287	HP:0001133	Constriction of peripheral visual field
OMIM:606068	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:606068	RHO	6010	HP:0000543	Optic disc pallor
OMIM:606068	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:606068	RHO	6010	HP:0000662	Nyctalopia
OMIM:606068	RHO	6010	HP:0001133	Constriction of peripheral visual field
OMIM:606068	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:606068	CA4	762	HP:0000543	Optic disc pallor
OMIM:606068	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:606068	CA4	762	HP:0000662	Nyctalopia
OMIM:606068	CA4	762	HP:0001133	Constriction of peripheral visual field
OMIM:606068	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:606068	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:606068	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:606068	CRB1	23418	HP:0000662	Nyctalopia
OMIM:606068	CRB1	23418	HP:0001133	Constriction of peripheral visual field
OMIM:606068	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:606068	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:606068	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:606068	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:606068	IMPG2	50939	HP:0001133	Constriction of peripheral visual field
OMIM:606068	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:606068	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:606068	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:606068	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:606068	ZNF513	130557	HP:0001133	Constriction of peripheral visual field
OMIM:606068	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:606068	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:606068	CRX	1406	HP:0000543	Optic disc pallor
OMIM:606068	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:606068	CRX	1406	HP:0000662	Nyctalopia
OMIM:606068	CRX	1406	HP:0001133	Constriction of peripheral visual field
OMIM:252605	GNPTG	84572	HP:0002650	Scoliosis
OMIM:252605	GNPTG	84572	HP:0001659	Aortic regurgitation
OMIM:252605	GNPTG	84572	HP:0002808	Kyphosis
OMIM:252605	GNPTG	84572	HP:0007759	Opacification of the corneal stroma
OMIM:252605	GNPTG	84572	HP:0000545	Myopia
OMIM:252605	GNPTG	84572	HP:0002869	Flared iliac wings
OMIM:252605	GNPTG	84572	HP:0003307	Hyperlordosis
OMIM:252605	GNPTG	84572	HP:0001387	Joint stiffness
OMIM:252605	GNPTG	84572	HP:0000470	Short neck
OMIM:252605	GNPTG	84572	HP:0001256	Intellectual disability, mild
OMIM:252605	GNPTG	84572	HP:0000768	Pectus carinatum
OMIM:252605	GNPTG	84572	HP:0000007	Autosomal recessive inheritance
OMIM:252605	GNPTG	84572	HP:0000280	Coarse facial features
OMIM:252605	GNPTG	84572	HP:0001650	Aortic valve stenosis
OMIM:252605	GNPTG	84572	HP:0002857	Genu valgum
OMIM:252605	GNPTG	84572	HP:0001547	Abnormality of the rib cage
OMIM:252605	GNPTG	84572	HP:0002829	Arthralgia
OMIM:252605	GNPTG	84572	HP:0004322	Short stature
OMIM:252605	GNPTG	84572	HP:0000943	Dysostosis multiplex
OMIM:252605	GNPTG	84572	HP:0001155	Abnormality of the hand
OMIM:613211	SLC24A4	123041	HP:0000007	Autosomal recessive inheritance
OMIM:613211	MMP20	9313	HP:0000007	Autosomal recessive inheritance
OMIM:613211	C4ORF26	152816	HP:0000007	Autosomal recessive inheritance
OMIM:613211	KLK4	9622	HP:0000007	Autosomal recessive inheritance
OMIM:613211	AMELX	265	HP:0000007	Autosomal recessive inheritance
OMIM:613211	WDR72	256764	HP:0000007	Autosomal recessive inheritance
OMIM:313500	IRF6	3664	HP:0000668	Hypodontia
OMIM:313500	IRF6	3664	HP:0001423	X-linked dominant inheritance
OMIM:313500	EDARADD	128178	HP:0000668	Hypodontia
OMIM:313500	EDARADD	128178	HP:0001423	X-linked dominant inheritance
OMIM:313500	FGFR1	2260	HP:0000668	Hypodontia
OMIM:313500	FGFR1	2260	HP:0001423	X-linked dominant inheritance
OMIM:313500	LTBP3	4054	HP:0000668	Hypodontia
OMIM:313500	LTBP3	4054	HP:0001423	X-linked dominant inheritance
OMIM:313500	WNT10A	80326	HP:0000668	Hypodontia
OMIM:313500	WNT10A	80326	HP:0001423	X-linked dominant inheritance
OMIM:313500	MSX1	4487	HP:0000668	Hypodontia
OMIM:313500	MSX1	4487	HP:0001423	X-linked dominant inheritance
OMIM:313500	EDA	1896	HP:0000668	Hypodontia
OMIM:313500	EDA	1896	HP:0001423	X-linked dominant inheritance
OMIM:313500	LRP6	4040	HP:0000668	Hypodontia
OMIM:313500	LRP6	4040	HP:0001423	X-linked dominant inheritance
OMIM:313500	AXIN2	8313	HP:0000668	Hypodontia
OMIM:313500	AXIN2	8313	HP:0001423	X-linked dominant inheritance
OMIM:313500	PAX9	5083	HP:0000668	Hypodontia
OMIM:313500	PAX9	5083	HP:0001423	X-linked dominant inheritance
OMIM:313500	TGFA	7039	HP:0000668	Hypodontia
OMIM:313500	TGFA	7039	HP:0001423	X-linked dominant inheritance
OMIM:104530	AMBN	258	HP:0000679	Taurodontia
OMIM:104530	AMBN	258	HP:0000006	Autosomal dominant inheritance
OMIM:104530	ENAM	10117	HP:0000679	Taurodontia
OMIM:104530	ENAM	10117	HP:0000006	Autosomal dominant inheritance
OMIM:104530	LAMB3	3914	HP:0000679	Taurodontia
OMIM:104530	LAMB3	3914	HP:0000006	Autosomal dominant inheritance
OMIM:104530	ITGB6	3694	HP:0000679	Taurodontia
OMIM:104530	ITGB6	3694	HP:0000006	Autosomal dominant inheritance
OMIM:109560	BCL3	602	HP:0002665	Lymphoma
OMIM:109560	BCL3	602	HP:0005550	Chronic lymphatic leukemia
OMIM:182190	MYH6	4624	HP:0011003	Severe Myopia
OMIM:182190	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:182190	HCN4	10021	HP:0011003	Severe Myopia
OMIM:182190	HCN4	10021	HP:0000006	Autosomal dominant inheritance
OMIM:182190	SCN5A	6331	HP:0011003	Severe Myopia
OMIM:182190	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:303100	CHM	1121	HP:0000662	Nyctalopia
OMIM:303100	CHM	1121	HP:0001139	Choroideremia
OMIM:303100	CHM	1121	HP:0000505	Visual impairment
OMIM:303100	CHM	1121	HP:0001133	Constriction of peripheral visual field
OMIM:303100	CHM	1121	HP:0000529	Progressive visual loss
OMIM:303100	CHM	1121	HP:0000512	Abnormal electroretinogram
OMIM:303100	CHM	1121	HP:0000533	Chorioretinal atrophy
OMIM:303100	CHM	1121	HP:0001423	X-linked dominant inheritance
OMIM:303100	CHM	1121	HP:0000545	Myopia
OMIM:303100	CHM	1121	HP:0007703	Abnormality of retinal pigmentation
OMIM:303100	CHM	1121	HP:0200065	Chorioretinal degeneration
OMIM:303100	RPE65	6121	HP:0000662	Nyctalopia
OMIM:303100	RPE65	6121	HP:0001139	Choroideremia
OMIM:303100	RPE65	6121	HP:0000505	Visual impairment
OMIM:303100	RPE65	6121	HP:0001133	Constriction of peripheral visual field
OMIM:303100	RPE65	6121	HP:0000529	Progressive visual loss
OMIM:303100	RPE65	6121	HP:0000512	Abnormal electroretinogram
OMIM:303100	RPE65	6121	HP:0000533	Chorioretinal atrophy
OMIM:303100	RPE65	6121	HP:0001423	X-linked dominant inheritance
OMIM:303100	RPE65	6121	HP:0000545	Myopia
OMIM:303100	RPE65	6121	HP:0007703	Abnormality of retinal pigmentation
OMIM:303100	RPE65	6121	HP:0200065	Chorioretinal degeneration
OMIM:300661	PRPS1	5631	HP:0000083	Renal insufficiency
OMIM:300661	PRPS1	5631	HP:0001252	Muscular hypotonia
OMIM:300661	PRPS1	5631	HP:0000597	Ophthalmoparesis
OMIM:300661	PRPS1	5631	HP:0100543	Cognitive impairment
OMIM:300661	PRPS1	5631	HP:0001270	Motor delay
OMIM:300661	PRPS1	5631	HP:0001419	X-linked recessive inheritance
OMIM:300661	PRPS1	5631	HP:0001249	Intellectual disability
OMIM:300661	PRPS1	5631	HP:0002149	Hyperuricemia
OMIM:300661	PRPS1	5631	HP:0001679	Abnormality of the aorta
OMIM:300661	PRPS1	5631	HP:0001639	Hypertrophic cardiomyopathy
OMIM:300661	PRPS1	5631	HP:0003202	Skeletal muscle atrophy
OMIM:300661	PRPS1	5631	HP:0001251	Ataxia
OMIM:300661	PRPS1	5631	HP:0002167	Neurological speech impairment
OMIM:300661	PRPS1	5631	HP:0000486	Strabismus
OMIM:300661	PRPS1	5631	HP:0000822	Hypertension
OMIM:300661	PRPS1	5631	HP:0000407	Sensorineural hearing impairment
OMIM:300661	PRPS1	5631	HP:0011675	Arrhythmia
OMIM:300661	PRPS1	5631	HP:0002311	Incoordination
ORPHANET:300878	IGHV4-34	28395	HP:0000988	Skin rash
ORPHANET:300878	IGHV4-34	28395	HP:0001034	Hypermelanotic macule
ORPHANET:300878	IGHV4-34	28395	HP:0005528	Bone marrow hypocellularity
ORPHANET:300878	IGHV4-34	28395	HP:0001909	Leukemia
ORPHANET:300878	IGHV4-34	28395	HP:0002093	Respiratory insufficiency
ORPHANET:300878	IGHV4-34	28395	HP:0002716	Lymphadenopathy
ORPHANET:300878	IGHV4-34	28395	HP:0001928	Abnormality of coagulation
ORPHANET:300878	IGHV4-34	28395	HP:0001744	Splenomegaly
ORPHANET:300878	IGHV4-34	28395	HP:0001878	Hemolytic anemia
ORPHANET:300878	IGHV4-34	28395	HP:0002027	Abdominal pain
ORPHANET:300878	IGHV4-34	28395	HP:0001635	Congestive heart failure
ORPHANET:300878	IGHV4-34	28395	HP:0004311	Abnormality of macrophages
ORPHANET:300878	IGHV4-34	28395	HP:0002633	Vasculitis
ORPHANET:300878	IGHV4-34	28395	HP:0100526	Neoplasm of the lung
ORPHANET:300878	IGHV4-34	28395	HP:0000083	Renal insufficiency
ORPHANET:300878	IGHV4-34	28395	HP:0002910	Elevated hepatic transaminases
ORPHANET:300878	IGHV4-34	28395	HP:0100787	Prostate neoplasm
OMIM:275210	LMNA	4000	HP:0000581	Blepharophimosis
OMIM:275210	LMNA	4000	HP:0001561	Polyhydramnios
OMIM:275210	LMNA	4000	HP:0000160	Narrow mouth
OMIM:275210	LMNA	4000	HP:0000175	Cleft palate
OMIM:275210	LMNA	4000	HP:0001622	Premature birth
OMIM:275210	LMNA	4000	HP:0000653	Sparse eyelashes
OMIM:275210	LMNA	4000	HP:0003826	Stillbirth
OMIM:275210	LMNA	4000	HP:0000835	Adrenal hypoplasia
OMIM:275210	LMNA	4000	HP:0012745	Short palpebral fissure
OMIM:275210	LMNA	4000	HP:0000377	Abnormality of the pinna
OMIM:275210	LMNA	4000	HP:0002093	Respiratory insufficiency
OMIM:275210	LMNA	4000	HP:0000316	Hypertelorism
OMIM:275210	LMNA	4000	HP:0002650	Scoliosis
OMIM:275210	LMNA	4000	HP:0000176	Submucous cleft hard palate
OMIM:275210	LMNA	4000	HP:0000962	Hyperkeratosis
OMIM:275210	LMNA	4000	HP:0007394	Prominent superficial blood vessels
OMIM:275210	LMNA	4000	HP:0001799	Short nail
OMIM:275210	LMNA	4000	HP:0100490	Camptodactyly of finger
OMIM:275210	LMNA	4000	HP:0100679	Lack of skin elasticity
OMIM:275210	LMNA	4000	HP:0000834	Abnormality of the adrenal glands
OMIM:275210	LMNA	4000	HP:0001838	Rocker bottom foot
OMIM:275210	LMNA	4000	HP:0000347	Micrognathia
OMIM:275210	LMNA	4000	HP:0000695	Natal tooth
OMIM:275210	LMNA	4000	HP:0000164	Abnormality of the teeth
OMIM:275210	LMNA	4000	HP:0001631	Atria septal defect
OMIM:275210	LMNA	4000	HP:0000368	Low-set, posteriorly rotated ears
OMIM:275210	LMNA	4000	HP:0008572	External ear malformation
OMIM:275210	LMNA	4000	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:275210	LMNA	4000	HP:0001643	Patent ductus arteriosus
OMIM:275210	LMNA	4000	HP:0000047	Hypospadias
OMIM:275210	LMNA	4000	HP:0003196	Short nose
OMIM:275210	LMNA	4000	HP:0002089	Pulmonary hypoplasia
OMIM:275210	LMNA	4000	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:275210	LMNA	4000	HP:0001376	Limitation of joint mobility
OMIM:275210	LMNA	4000	HP:0001371	Flexion contracture
OMIM:275210	LMNA	4000	HP:0002751	Kyphoscoliosis
OMIM:275210	LMNA	4000	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:275210	LMNA	4000	HP:0001425	Heterogeneous
OMIM:275210	LMNA	4000	HP:0000194	Open mouth
OMIM:275210	LMNA	4000	HP:0000534	Abnormality of the eyebrow
OMIM:275210	LMNA	4000	HP:0000499	Abnormality of the eyelashes
OMIM:275210	LMNA	4000	HP:0000478	Abnormality of the eye
OMIM:275210	LMNA	4000	HP:0000007	Autosomal recessive inheritance
OMIM:275210	LMNA	4000	HP:0000239	Large fontanelles
OMIM:275210	LMNA	4000	HP:0001696	Situs inversus totalis
OMIM:275210	LMNA	4000	HP:0000453	Choanal atresia
OMIM:275210	LMNA	4000	HP:0005111	Dilatation of the ascending aorta
OMIM:275210	LMNA	4000	HP:0001558	Decreased fetal movement
OMIM:275210	LMNA	4000	HP:0000940	Abnormal diaphysis morphology
OMIM:275210	LMNA	4000	HP:0100627	Displacement of the external urethral meatus
OMIM:275210	LMNA	4000	HP:0000073	Ureteral duplication
OMIM:275210	LMNA	4000	HP:0000369	Low-set ears
OMIM:275210	LMNA	4000	HP:0001511	Intrauterine growth retardation
OMIM:275210	LMNA	4000	HP:0002808	Kyphosis
OMIM:275210	ZMPSTE24	10269	HP:0000581	Blepharophimosis
OMIM:275210	ZMPSTE24	10269	HP:0001561	Polyhydramnios
OMIM:275210	ZMPSTE24	10269	HP:0000160	Narrow mouth
OMIM:275210	ZMPSTE24	10269	HP:0000175	Cleft palate
OMIM:275210	ZMPSTE24	10269	HP:0001622	Premature birth
OMIM:275210	ZMPSTE24	10269	HP:0000653	Sparse eyelashes
OMIM:275210	ZMPSTE24	10269	HP:0003826	Stillbirth
OMIM:275210	ZMPSTE24	10269	HP:0000835	Adrenal hypoplasia
OMIM:275210	ZMPSTE24	10269	HP:0012745	Short palpebral fissure
OMIM:275210	ZMPSTE24	10269	HP:0000377	Abnormality of the pinna
OMIM:275210	ZMPSTE24	10269	HP:0002093	Respiratory insufficiency
OMIM:275210	ZMPSTE24	10269	HP:0000316	Hypertelorism
OMIM:275210	ZMPSTE24	10269	HP:0002650	Scoliosis
OMIM:275210	ZMPSTE24	10269	HP:0000176	Submucous cleft hard palate
OMIM:275210	ZMPSTE24	10269	HP:0000962	Hyperkeratosis
OMIM:275210	ZMPSTE24	10269	HP:0007394	Prominent superficial blood vessels
OMIM:275210	ZMPSTE24	10269	HP:0001799	Short nail
OMIM:275210	ZMPSTE24	10269	HP:0100490	Camptodactyly of finger
OMIM:275210	ZMPSTE24	10269	HP:0100679	Lack of skin elasticity
OMIM:275210	ZMPSTE24	10269	HP:0000834	Abnormality of the adrenal glands
OMIM:275210	ZMPSTE24	10269	HP:0001838	Rocker bottom foot
OMIM:275210	ZMPSTE24	10269	HP:0000347	Micrognathia
OMIM:275210	ZMPSTE24	10269	HP:0000695	Natal tooth
OMIM:275210	ZMPSTE24	10269	HP:0000164	Abnormality of the teeth
OMIM:275210	ZMPSTE24	10269	HP:0001631	Atria septal defect
OMIM:275210	ZMPSTE24	10269	HP:0000368	Low-set, posteriorly rotated ears
OMIM:275210	ZMPSTE24	10269	HP:0008572	External ear malformation
OMIM:275210	ZMPSTE24	10269	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:275210	ZMPSTE24	10269	HP:0001643	Patent ductus arteriosus
OMIM:275210	ZMPSTE24	10269	HP:0000047	Hypospadias
OMIM:275210	ZMPSTE24	10269	HP:0003196	Short nose
OMIM:275210	ZMPSTE24	10269	HP:0002089	Pulmonary hypoplasia
OMIM:275210	ZMPSTE24	10269	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:275210	ZMPSTE24	10269	HP:0001376	Limitation of joint mobility
OMIM:275210	ZMPSTE24	10269	HP:0001371	Flexion contracture
OMIM:275210	ZMPSTE24	10269	HP:0002751	Kyphoscoliosis
OMIM:275210	ZMPSTE24	10269	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:275210	ZMPSTE24	10269	HP:0001425	Heterogeneous
OMIM:275210	ZMPSTE24	10269	HP:0000194	Open mouth
OMIM:275210	ZMPSTE24	10269	HP:0000534	Abnormality of the eyebrow
OMIM:275210	ZMPSTE24	10269	HP:0000499	Abnormality of the eyelashes
OMIM:275210	ZMPSTE24	10269	HP:0000478	Abnormality of the eye
OMIM:275210	ZMPSTE24	10269	HP:0000007	Autosomal recessive inheritance
OMIM:275210	ZMPSTE24	10269	HP:0000239	Large fontanelles
OMIM:275210	ZMPSTE24	10269	HP:0001696	Situs inversus totalis
OMIM:275210	ZMPSTE24	10269	HP:0000453	Choanal atresia
OMIM:275210	ZMPSTE24	10269	HP:0005111	Dilatation of the ascending aorta
OMIM:275210	ZMPSTE24	10269	HP:0001558	Decreased fetal movement
OMIM:275210	ZMPSTE24	10269	HP:0000940	Abnormal diaphysis morphology
OMIM:275210	ZMPSTE24	10269	HP:0100627	Displacement of the external urethral meatus
OMIM:275210	ZMPSTE24	10269	HP:0000073	Ureteral duplication
OMIM:275210	ZMPSTE24	10269	HP:0000369	Low-set ears
OMIM:275210	ZMPSTE24	10269	HP:0001511	Intrauterine growth retardation
OMIM:275210	ZMPSTE24	10269	HP:0002808	Kyphosis
OMIM:612286	SLC9A3R1	9368	HP:0000939	Osteoporosis
OMIM:612286	SLC9A3R1	9368	HP:0002659	Increased susceptibility to fractures
OMIM:612286	SLC9A3R1	9368	HP:0000006	Autosomal dominant inheritance
OMIM:612286	SLC9A3R1	9368	HP:0000938	Osteopenia
OMIM:612286	SLC9A3R1	9368	HP:0000787	Nephrolithiasis
OMIM:612286	SLC9A3R1	9368	HP:0002148	Hypophosphatemia
OMIM:612286	SLC9A3R1	9368	HP:0002150	Hypercalciuria
OMIM:612286	SLC34A1	6569	HP:0000939	Osteoporosis
OMIM:612286	SLC34A1	6569	HP:0002659	Increased susceptibility to fractures
OMIM:612286	SLC34A1	6569	HP:0000006	Autosomal dominant inheritance
OMIM:612286	SLC34A1	6569	HP:0000938	Osteopenia
OMIM:612286	SLC34A1	6569	HP:0000787	Nephrolithiasis
OMIM:612286	SLC34A1	6569	HP:0002148	Hypophosphatemia
OMIM:612286	SLC34A1	6569	HP:0002150	Hypercalciuria
OMIM:207600	MLX	6945	HP:0001369	Arthritis
OMIM:207600	MLX	6945	HP:0100576	Amaurosis fugax
OMIM:207600	MLX	6945	HP:0002829	Arthralgia
OMIM:207600	MLX	6945	HP:0004306	Abnormality of the endocardium
OMIM:207600	MLX	6945	HP:0000505	Visual impairment
OMIM:207600	MLX	6945	HP:0000975	Hyperhidrosis
OMIM:207600	MLX	6945	HP:0100533	Inflammatory abnormality of the eye
OMIM:207600	MLX	6945	HP:0001324	Muscle weakness
OMIM:207600	MLX	6945	HP:0002637	Cerebral ischemia
OMIM:207600	MLX	6945	HP:0004372	Reduced consciousness/confusion
OMIM:207600	MLX	6945	HP:0001639	Hypertrophic cardiomyopathy
OMIM:207600	MLX	6945	HP:0001646	Abnormality of the aortic valve
OMIM:207600	MLX	6945	HP:0100735	Hypertensive crisis
OMIM:207600	MLX	6945	HP:0002076	Migraine
OMIM:207600	MLX	6945	HP:0005111	Dilatation of the ascending aorta
OMIM:207600	MLX	6945	HP:0002167	Neurological speech impairment
OMIM:207600	MLX	6945	HP:0002793	Abnormal pattern of respiration
OMIM:207600	MLX	6945	HP:0001677	Coronary artery disease
OMIM:207600	MLX	6945	HP:0001824	Weight loss
OMIM:207600	MLX	6945	HP:0004370	Abnormality of temperature regulation
OMIM:207600	MLX	6945	HP:0100749	Chest pain
OMIM:207600	MLX	6945	HP:0200042	Skin ulcer
OMIM:207600	MLX	6945	HP:0002633	Vasculitis
OMIM:207600	MLX	6945	HP:0002039	Anorexia
OMIM:207600	MLX	6945	HP:0001903	Anemia
OMIM:207600	MLX	6945	HP:0001250	Seizures
OMIM:207600	MLX	6945	HP:0000488	Retinopathy
OMIM:207600	MLX	6945	HP:0002617	Aneurysm
OMIM:207600	MLX	6945	HP:0003326	Myalgia
OMIM:207600	HLA-B	3106	HP:0001369	Arthritis
OMIM:207600	HLA-B	3106	HP:0100576	Amaurosis fugax
OMIM:207600	HLA-B	3106	HP:0002829	Arthralgia
OMIM:207600	HLA-B	3106	HP:0004306	Abnormality of the endocardium
OMIM:207600	HLA-B	3106	HP:0000505	Visual impairment
OMIM:207600	HLA-B	3106	HP:0000975	Hyperhidrosis
OMIM:207600	HLA-B	3106	HP:0100533	Inflammatory abnormality of the eye
OMIM:207600	HLA-B	3106	HP:0001324	Muscle weakness
OMIM:207600	HLA-B	3106	HP:0002637	Cerebral ischemia
OMIM:207600	HLA-B	3106	HP:0004372	Reduced consciousness/confusion
OMIM:207600	HLA-B	3106	HP:0001639	Hypertrophic cardiomyopathy
OMIM:207600	HLA-B	3106	HP:0001646	Abnormality of the aortic valve
OMIM:207600	HLA-B	3106	HP:0100735	Hypertensive crisis
OMIM:207600	HLA-B	3106	HP:0002076	Migraine
OMIM:207600	HLA-B	3106	HP:0005111	Dilatation of the ascending aorta
OMIM:207600	HLA-B	3106	HP:0002167	Neurological speech impairment
OMIM:207600	HLA-B	3106	HP:0002793	Abnormal pattern of respiration
OMIM:207600	HLA-B	3106	HP:0001677	Coronary artery disease
OMIM:207600	HLA-B	3106	HP:0001824	Weight loss
OMIM:207600	HLA-B	3106	HP:0004370	Abnormality of temperature regulation
OMIM:207600	HLA-B	3106	HP:0100749	Chest pain
OMIM:207600	HLA-B	3106	HP:0200042	Skin ulcer
OMIM:207600	HLA-B	3106	HP:0002633	Vasculitis
OMIM:207600	HLA-B	3106	HP:0002039	Anorexia
OMIM:207600	HLA-B	3106	HP:0001903	Anemia
OMIM:207600	HLA-B	3106	HP:0001250	Seizures
OMIM:207600	HLA-B	3106	HP:0000488	Retinopathy
OMIM:207600	HLA-B	3106	HP:0002617	Aneurysm
OMIM:207600	HLA-B	3106	HP:0003326	Myalgia
OMIM:207600	IL12B	3593	HP:0001369	Arthritis
OMIM:207600	IL12B	3593	HP:0100576	Amaurosis fugax
OMIM:207600	IL12B	3593	HP:0002829	Arthralgia
OMIM:207600	IL12B	3593	HP:0004306	Abnormality of the endocardium
OMIM:207600	IL12B	3593	HP:0000505	Visual impairment
OMIM:207600	IL12B	3593	HP:0000975	Hyperhidrosis
OMIM:207600	IL12B	3593	HP:0100533	Inflammatory abnormality of the eye
OMIM:207600	IL12B	3593	HP:0001324	Muscle weakness
OMIM:207600	IL12B	3593	HP:0002637	Cerebral ischemia
OMIM:207600	IL12B	3593	HP:0004372	Reduced consciousness/confusion
OMIM:207600	IL12B	3593	HP:0001639	Hypertrophic cardiomyopathy
OMIM:207600	IL12B	3593	HP:0001646	Abnormality of the aortic valve
OMIM:207600	IL12B	3593	HP:0100735	Hypertensive crisis
OMIM:207600	IL12B	3593	HP:0002076	Migraine
OMIM:207600	IL12B	3593	HP:0005111	Dilatation of the ascending aorta
OMIM:207600	IL12B	3593	HP:0002167	Neurological speech impairment
OMIM:207600	IL12B	3593	HP:0002793	Abnormal pattern of respiration
OMIM:207600	IL12B	3593	HP:0001677	Coronary artery disease
OMIM:207600	IL12B	3593	HP:0001824	Weight loss
OMIM:207600	IL12B	3593	HP:0004370	Abnormality of temperature regulation
OMIM:207600	IL12B	3593	HP:0100749	Chest pain
OMIM:207600	IL12B	3593	HP:0200042	Skin ulcer
OMIM:207600	IL12B	3593	HP:0002633	Vasculitis
OMIM:207600	IL12B	3593	HP:0002039	Anorexia
OMIM:207600	IL12B	3593	HP:0001903	Anemia
OMIM:207600	IL12B	3593	HP:0001250	Seizures
OMIM:207600	IL12B	3593	HP:0000488	Retinopathy
OMIM:207600	IL12B	3593	HP:0002617	Aneurysm
OMIM:207600	IL12B	3593	HP:0003326	Myalgia
OMIM:615348	KLHL40	131377	HP:0001371	Flexion contracture
OMIM:615348	KLHL40	131377	HP:0010628	Facial palsy
OMIM:615348	KLHL40	131377	HP:0002878	Respiratory failure
OMIM:615348	KLHL40	131377	HP:0000765	Abnormality of the thorax
OMIM:615348	KLHL40	131377	HP:0002015	Dysphagia
OMIM:615674	POFUT1	23509	HP:0000006	Autosomal dominant inheritance
OMIM:615674	POGLUT1	56983	HP:0000006	Autosomal dominant inheritance
OMIM:615674	KRT5	3852	HP:0000006	Autosomal dominant inheritance
OMIM:219100	FBLN5	10516	HP:0000023	Inguinal hernia
OMIM:219100	FBLN5	10516	HP:0004948	Vascular tortuosity
OMIM:219100	FBLN5	10516	HP:0000767	Pectus excavatum
OMIM:219100	FBLN5	10516	HP:0000007	Autosomal recessive inheritance
OMIM:219100	FBLN5	10516	HP:0000015	Bladder diverticulum
OMIM:219100	FBLN5	10516	HP:0000271	Abnormality of the face
OMIM:219100	FBLN5	10516	HP:0001425	Heterogeneous
OMIM:219100	FBLN5	10516	HP:0000252	Microcephaly
OMIM:219100	FBLN5	10516	HP:0001548	Overgrowth
OMIM:219100	FBLN5	10516	HP:0004381	Supravalvular aortic stenosis
OMIM:219100	FBLN5	10516	HP:0001388	Joint laxity
OMIM:219100	FBLN5	10516	HP:0001562	Oligohydramnios
OMIM:219100	FBLN5	10516	HP:0002097	Emphysema
OMIM:219100	FBLN5	10516	HP:0001166	Arachnodactyly
OMIM:219100	FBLN5	10516	HP:0001537	Umbilical hernia
OMIM:219100	FBLN5	10516	HP:0000776	Congenital diaphragmatic hernia
OMIM:219100	FBLN5	10516	HP:0002205	Recurrent respiratory infections
OMIM:219100	FBLN5	10516	HP:0001582	Redundant skin
OMIM:219100	FBLN5	10516	HP:0002631	Ascending aortic aneurysm
OMIM:219100	EFEMP2	30008	HP:0000023	Inguinal hernia
OMIM:219100	EFEMP2	30008	HP:0004948	Vascular tortuosity
OMIM:219100	EFEMP2	30008	HP:0000767	Pectus excavatum
OMIM:219100	EFEMP2	30008	HP:0000007	Autosomal recessive inheritance
OMIM:219100	EFEMP2	30008	HP:0000015	Bladder diverticulum
OMIM:219100	EFEMP2	30008	HP:0000271	Abnormality of the face
OMIM:219100	EFEMP2	30008	HP:0001425	Heterogeneous
OMIM:219100	EFEMP2	30008	HP:0000252	Microcephaly
OMIM:219100	EFEMP2	30008	HP:0001548	Overgrowth
OMIM:219100	EFEMP2	30008	HP:0004381	Supravalvular aortic stenosis
OMIM:219100	EFEMP2	30008	HP:0001388	Joint laxity
OMIM:219100	EFEMP2	30008	HP:0001562	Oligohydramnios
OMIM:219100	EFEMP2	30008	HP:0002097	Emphysema
OMIM:219100	EFEMP2	30008	HP:0001166	Arachnodactyly
OMIM:219100	EFEMP2	30008	HP:0001537	Umbilical hernia
OMIM:219100	EFEMP2	30008	HP:0000776	Congenital diaphragmatic hernia
OMIM:219100	EFEMP2	30008	HP:0002205	Recurrent respiratory infections
OMIM:219100	EFEMP2	30008	HP:0001582	Redundant skin
OMIM:219100	EFEMP2	30008	HP:0002631	Ascending aortic aneurysm
OMIM:609796	TGM5	9333	HP:0000007	Autosomal recessive inheritance
ORPHANET:77258	TRPS1	7227	HP:0003307	Hyperlordosis
ORPHANET:77258	TRPS1	7227	HP:0100490	Camptodactyly of finger
ORPHANET:77258	TRPS1	7227	HP:0000768	Pectus carinatum
ORPHANET:77258	TRPS1	7227	HP:0000400	Macrotia
ORPHANET:77258	TRPS1	7227	HP:0005105	Abnormal nasal morphology
ORPHANET:77258	TRPS1	7227	HP:0011362	Abnormal hair quantity
ORPHANET:77258	TRPS1	7227	HP:0000343	Long philtrum
ORPHANET:77258	TRPS1	7227	HP:0009882	Short distal phalanx of finger
ORPHANET:77258	TRPS1	7227	HP:0000325	Triangular face
ORPHANET:77258	TRPS1	7227	HP:0004209	Clinodactyly of the 5th finger
ORPHANET:77258	TRPS1	7227	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:77258	TRPS1	7227	HP:0010579	Cone-shaped epiphysis
ORPHANET:77258	TRPS1	7227	HP:0000347	Micrognathia
ORPHANET:77258	TRPS1	7227	HP:0001252	Muscular hypotonia
ORPHANET:77258	TRPS1	7227	HP:0003272	Abnormality of the hip bone
ORPHANET:77258	TRPS1	7227	HP:0002007	Frontal bossing
ORPHANET:77258	TRPS1	7227	HP:0001156	Brachydactyly syndrome
ORPHANET:77258	TRPS1	7227	HP:0004322	Short stature
ORPHANET:77258	TRPS1	7227	HP:0000174	Abnormality of the palate
ORPHANET:77258	TRPS1	7227	HP:0000233	Thin vermilion border
ORPHANET:77258	TRPS1	7227	HP:0002650	Scoliosis
ORPHANET:77258	TRPS1	7227	HP:0001597	Abnormality of the nail
OMIM:607136	TBP	6908	HP:0001300	Parkinsonism
OMIM:607136	TBP	6908	HP:0002067	Bradykinesia
OMIM:607136	TBP	6908	HP:0000718	Aggressive behavior
OMIM:607136	TBP	6908	HP:0000020	Urinary incontinence
OMIM:607136	TBP	6908	HP:0002072	Chorea
OMIM:607136	TBP	6908	HP:0002171	Gliosis
OMIM:607136	TBP	6908	HP:0000716	Depression
OMIM:607136	TBP	6908	HP:0002070	Limb ataxia
OMIM:607136	TBP	6908	HP:0002015	Dysphagia
OMIM:607136	TBP	6908	HP:0001336	Myoclonus
OMIM:607136	TBP	6908	HP:0000006	Autosomal dominant inheritance
OMIM:607136	TBP	6908	HP:0002186	Apraxia
OMIM:607136	TBP	6908	HP:0000738	Hallucinations
OMIM:607136	TBP	6908	HP:0000640	Gaze-evoked nystagmus
OMIM:607136	TBP	6908	HP:0001332	Dystonia
OMIM:607136	TBP	6908	HP:0002063	Rigidity
OMIM:607136	TBP	6908	HP:0003676	Progressive
OMIM:607136	TBP	6908	HP:0001272	Cerebellar atrophy
OMIM:607136	TBP	6908	HP:0002529	Neuronal loss in central nervous system
OMIM:607136	TBP	6908	HP:0001310	Dysmetria
OMIM:607136	TBP	6908	HP:0011999	Paranoia
OMIM:607136	TBP	6908	HP:0001260	Dysarthria
OMIM:607136	TBP	6908	HP:0002066	Gait ataxia
OMIM:607136	TBP	6908	HP:0001250	Seizures
OMIM:267000	DIS3L2	129563	HP:0000028	Cryptorchidism
OMIM:267000	DIS3L2	129563	HP:0000347	Micrognathia
OMIM:267000	DIS3L2	129563	HP:0010804	Tented upper lip vermilion
OMIM:267000	DIS3L2	129563	HP:0011341	Long upper lip
OMIM:267000	DIS3L2	129563	HP:0000194	Open mouth
OMIM:267000	DIS3L2	129563	HP:0000842	Hyperinsulinemia
OMIM:267000	DIS3L2	129563	HP:0001561	Polyhydramnios
OMIM:267000	DIS3L2	129563	HP:0000368	Low-set, posteriorly rotated ears
OMIM:267000	DIS3L2	129563	HP:0000431	Wide nasal bridge
OMIM:267000	DIS3L2	129563	HP:0004299	Hernia of the abdominal wall
OMIM:267000	DIS3L2	129563	HP:0008736	Hypoplasia of penis
OMIM:267000	DIS3L2	129563	HP:0000954	Single transverse palmar crease
OMIM:267000	DIS3L2	129563	HP:0000776	Congenital diaphragmatic hernia
OMIM:267000	DIS3L2	129563	HP:0002667	Nephroblastoma (Wilms tumor)
OMIM:267000	DIS3L2	129563	HP:0000268	Dolichocephaly
OMIM:267000	DIS3L2	129563	HP:0001252	Muscular hypotonia
OMIM:267000	DIS3L2	129563	HP:0000256	Macrocephaly
OMIM:267000	DIS3L2	129563	HP:0000508	Ptosis
OMIM:267000	DIS3L2	129563	HP:0000463	Anteverted nares
OMIM:267000	DIS3L2	129563	HP:0001999	Abnormal facial shape
OMIM:267000	DIS3L2	129563	HP:0000311	Round face
OMIM:267000	DIS3L2	129563	HP:0003196	Short nose
OMIM:267000	DIS3L2	129563	HP:0000369	Low-set ears
OMIM:267000	DIS3L2	129563	HP:0003271	Visceromegaly
OMIM:267000	DIS3L2	129563	HP:0011611	Interrupted aortic arch
OMIM:267000	DIS3L2	129563	HP:0005280	Depressed nasal bridge
OMIM:267000	DIS3L2	129563	HP:0001263	Global developmental delay
OMIM:267000	DIS3L2	129563	HP:0000288	Abnormality of the philtrum
OMIM:267000	DIS3L2	129563	HP:0100543	Cognitive impairment
OMIM:267000	DIS3L2	129563	HP:0000007	Autosomal recessive inheritance
OMIM:267000	DIS3L2	129563	HP:0000348	High forehead
OMIM:267000	DIS3L2	129563	HP:0002240	Hepatomegaly
OMIM:267000	DIS3L2	129563	HP:0000969	Edema
OMIM:267000	DIS3L2	129563	HP:0001250	Seizures
OMIM:267000	DIS3L2	129563	HP:0000391	Thickened helices
OMIM:267000	DIS3L2	129563	HP:0001274	Agenesis of corpus callosum
OMIM:267000	DIS3L2	129563	HP:0000174	Abnormality of the palate
OMIM:267000	DIS3L2	129563	HP:0000098	Tall stature
OMIM:267000	DIS3L2	129563	HP:0000490	Deeply set eye
OMIM:267000	DIS3L2	129563	HP:0001541	Ascites
OMIM:267000	DIS3L2	129563	HP:0000286	Epicanthus
OMIM:267000	DIS3L2	129563	HP:0001732	Abnormality of the pancreas
OMIM:246560	BTRC	8945	HP:0000426	Prominent nasal bridge
OMIM:246560	BTRC	8945	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:246560	BTRC	8945	HP:0000175	Cleft palate
OMIM:246560	BTRC	8945	HP:0000327	Hypoplasia of the maxilla
OMIM:246560	BTRC	8945	HP:0000160	Narrow mouth
OMIM:246560	BTRC	8945	HP:0002997	Abnormality of the ulna
OMIM:246560	BTRC	8945	HP:0012385	Camptodactyly
OMIM:246560	BTRC	8945	HP:0000007	Autosomal recessive inheritance
OMIM:246560	BTRC	8945	HP:0000093	Proteinuria
OMIM:246560	BTRC	8945	HP:0003028	Abnormality of the ankles
OMIM:246560	BTRC	8945	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:246560	BTRC	8945	HP:0003019	Abnormality of the wrist
OMIM:246560	BTRC	8945	HP:0001163	Abnormality of the metacarpal bones
OMIM:246560	BTRC	8945	HP:0001171	Split hand
OMIM:246560	BTRC	8945	HP:0001249	Intellectual disability
OMIM:246560	BTRC	8945	HP:0000089	Renal hypoplasia
OMIM:246560	BTRC	8945	HP:0004322	Short stature
OMIM:246560	BTRC	8945	HP:0000028	Cryptorchidism
OMIM:246560	BTRC	8945	HP:0000308	Microretrognathia
OMIM:246560	BTRC	8945	HP:0000256	Macrocephaly
OMIM:246560	BTRC	8945	HP:0000639	Nystagmus
OMIM:246560	BTRC	8945	HP:0008678	Renal hypoplasia/aplasia
OMIM:246560	BTRC	8945	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:246560	BTRC	8945	HP:0000545	Myopia
OMIM:246560	BTRC	8945	HP:0008368	Tarsal synostosis
OMIM:246560	BTRC	8945	HP:0000347	Micrognathia
OMIM:246560	BTRC	8945	HP:0002916	Abnormality of chromosome segregation
OMIM:246560	BTRC	8945	HP:0000006	Autosomal dominant inheritance
OMIM:246560	BTRC	8945	HP:0000407	Sensorineural hearing impairment
OMIM:246560	BTRC	8945	HP:0008404	Nail dystrophy
OMIM:246560	BTRC	8945	HP:0000691	Microdontia
OMIM:246560	BTRC	8945	HP:0100543	Cognitive impairment
OMIM:246560	BTRC	8945	HP:0000368	Low-set, posteriorly rotated ears
OMIM:246560	BTRC	8945	HP:0000218	High palate
OMIM:246560	BTRC	8945	HP:0000083	Renal insufficiency
OMIM:246560	BTRC	8945	HP:0000405	Conductive hearing impairment
OMIM:246560	BTRC	8945	HP:0000377	Abnormality of the pinna
OMIM:246560	TP63	8626	HP:0000426	Prominent nasal bridge
OMIM:246560	TP63	8626	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:246560	TP63	8626	HP:0000175	Cleft palate
OMIM:246560	TP63	8626	HP:0000327	Hypoplasia of the maxilla
OMIM:246560	TP63	8626	HP:0000160	Narrow mouth
OMIM:246560	TP63	8626	HP:0002997	Abnormality of the ulna
OMIM:246560	TP63	8626	HP:0012385	Camptodactyly
OMIM:246560	TP63	8626	HP:0000007	Autosomal recessive inheritance
OMIM:246560	TP63	8626	HP:0000093	Proteinuria
OMIM:246560	TP63	8626	HP:0003028	Abnormality of the ankles
OMIM:246560	TP63	8626	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:246560	TP63	8626	HP:0003019	Abnormality of the wrist
OMIM:246560	TP63	8626	HP:0001163	Abnormality of the metacarpal bones
OMIM:246560	TP63	8626	HP:0001171	Split hand
OMIM:246560	TP63	8626	HP:0001249	Intellectual disability
OMIM:246560	TP63	8626	HP:0000089	Renal hypoplasia
OMIM:246560	TP63	8626	HP:0004322	Short stature
OMIM:246560	TP63	8626	HP:0000028	Cryptorchidism
OMIM:246560	TP63	8626	HP:0000308	Microretrognathia
OMIM:246560	TP63	8626	HP:0000256	Macrocephaly
OMIM:246560	TP63	8626	HP:0000639	Nystagmus
OMIM:246560	TP63	8626	HP:0008678	Renal hypoplasia/aplasia
OMIM:246560	TP63	8626	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:246560	TP63	8626	HP:0000545	Myopia
OMIM:246560	TP63	8626	HP:0008368	Tarsal synostosis
OMIM:246560	TP63	8626	HP:0000347	Micrognathia
OMIM:246560	TP63	8626	HP:0002916	Abnormality of chromosome segregation
OMIM:246560	TP63	8626	HP:0000006	Autosomal dominant inheritance
OMIM:246560	TP63	8626	HP:0000407	Sensorineural hearing impairment
OMIM:246560	TP63	8626	HP:0008404	Nail dystrophy
OMIM:246560	TP63	8626	HP:0000691	Microdontia
OMIM:246560	TP63	8626	HP:0100543	Cognitive impairment
OMIM:246560	TP63	8626	HP:0000368	Low-set, posteriorly rotated ears
OMIM:246560	TP63	8626	HP:0000218	High palate
OMIM:246560	TP63	8626	HP:0000083	Renal insufficiency
OMIM:246560	TP63	8626	HP:0000405	Conductive hearing impairment
OMIM:246560	TP63	8626	HP:0000377	Abnormality of the pinna
OMIM:246560	FBXW4	6468	HP:0000426	Prominent nasal bridge
OMIM:246560	FBXW4	6468	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:246560	FBXW4	6468	HP:0000175	Cleft palate
OMIM:246560	FBXW4	6468	HP:0000327	Hypoplasia of the maxilla
OMIM:246560	FBXW4	6468	HP:0000160	Narrow mouth
OMIM:246560	FBXW4	6468	HP:0002997	Abnormality of the ulna
OMIM:246560	FBXW4	6468	HP:0012385	Camptodactyly
OMIM:246560	FBXW4	6468	HP:0000007	Autosomal recessive inheritance
OMIM:246560	FBXW4	6468	HP:0000093	Proteinuria
OMIM:246560	FBXW4	6468	HP:0003028	Abnormality of the ankles
OMIM:246560	FBXW4	6468	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:246560	FBXW4	6468	HP:0003019	Abnormality of the wrist
OMIM:246560	FBXW4	6468	HP:0001163	Abnormality of the metacarpal bones
OMIM:246560	FBXW4	6468	HP:0001171	Split hand
OMIM:246560	FBXW4	6468	HP:0001249	Intellectual disability
OMIM:246560	FBXW4	6468	HP:0000089	Renal hypoplasia
OMIM:246560	FBXW4	6468	HP:0004322	Short stature
OMIM:246560	FBXW4	6468	HP:0000028	Cryptorchidism
OMIM:246560	FBXW4	6468	HP:0000308	Microretrognathia
OMIM:246560	FBXW4	6468	HP:0000256	Macrocephaly
OMIM:246560	FBXW4	6468	HP:0000639	Nystagmus
OMIM:246560	FBXW4	6468	HP:0008678	Renal hypoplasia/aplasia
OMIM:246560	FBXW4	6468	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:246560	FBXW4	6468	HP:0000545	Myopia
OMIM:246560	FBXW4	6468	HP:0008368	Tarsal synostosis
OMIM:246560	FBXW4	6468	HP:0000347	Micrognathia
OMIM:246560	FBXW4	6468	HP:0002916	Abnormality of chromosome segregation
OMIM:246560	FBXW4	6468	HP:0000006	Autosomal dominant inheritance
OMIM:246560	FBXW4	6468	HP:0000407	Sensorineural hearing impairment
OMIM:246560	FBXW4	6468	HP:0008404	Nail dystrophy
OMIM:246560	FBXW4	6468	HP:0000691	Microdontia
OMIM:246560	FBXW4	6468	HP:0100543	Cognitive impairment
OMIM:246560	FBXW4	6468	HP:0000368	Low-set, posteriorly rotated ears
OMIM:246560	FBXW4	6468	HP:0000218	High palate
OMIM:246560	FBXW4	6468	HP:0000083	Renal insufficiency
OMIM:246560	FBXW4	6468	HP:0000405	Conductive hearing impairment
OMIM:246560	FBXW4	6468	HP:0000377	Abnormality of the pinna
OMIM:246560	DLX5	1749	HP:0000426	Prominent nasal bridge
OMIM:246560	DLX5	1749	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:246560	DLX5	1749	HP:0000175	Cleft palate
OMIM:246560	DLX5	1749	HP:0000327	Hypoplasia of the maxilla
OMIM:246560	DLX5	1749	HP:0000160	Narrow mouth
OMIM:246560	DLX5	1749	HP:0002997	Abnormality of the ulna
OMIM:246560	DLX5	1749	HP:0012385	Camptodactyly
OMIM:246560	DLX5	1749	HP:0000007	Autosomal recessive inheritance
OMIM:246560	DLX5	1749	HP:0000093	Proteinuria
OMIM:246560	DLX5	1749	HP:0003028	Abnormality of the ankles
OMIM:246560	DLX5	1749	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:246560	DLX5	1749	HP:0003019	Abnormality of the wrist
OMIM:246560	DLX5	1749	HP:0001163	Abnormality of the metacarpal bones
OMIM:246560	DLX5	1749	HP:0001171	Split hand
OMIM:246560	DLX5	1749	HP:0001249	Intellectual disability
OMIM:246560	DLX5	1749	HP:0000089	Renal hypoplasia
OMIM:246560	DLX5	1749	HP:0004322	Short stature
OMIM:246560	DLX5	1749	HP:0000028	Cryptorchidism
OMIM:246560	DLX5	1749	HP:0000308	Microretrognathia
OMIM:246560	DLX5	1749	HP:0000256	Macrocephaly
OMIM:246560	DLX5	1749	HP:0000639	Nystagmus
OMIM:246560	DLX5	1749	HP:0008678	Renal hypoplasia/aplasia
OMIM:246560	DLX5	1749	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:246560	DLX5	1749	HP:0000545	Myopia
OMIM:246560	DLX5	1749	HP:0008368	Tarsal synostosis
OMIM:246560	DLX5	1749	HP:0000347	Micrognathia
OMIM:246560	DLX5	1749	HP:0002916	Abnormality of chromosome segregation
OMIM:246560	DLX5	1749	HP:0000006	Autosomal dominant inheritance
OMIM:246560	DLX5	1749	HP:0000407	Sensorineural hearing impairment
OMIM:246560	DLX5	1749	HP:0008404	Nail dystrophy
OMIM:246560	DLX5	1749	HP:0000691	Microdontia
OMIM:246560	DLX5	1749	HP:0100543	Cognitive impairment
OMIM:246560	DLX5	1749	HP:0000368	Low-set, posteriorly rotated ears
OMIM:246560	DLX5	1749	HP:0000218	High palate
OMIM:246560	DLX5	1749	HP:0000083	Renal insufficiency
OMIM:246560	DLX5	1749	HP:0000405	Conductive hearing impairment
OMIM:246560	DLX5	1749	HP:0000377	Abnormality of the pinna
OMIM:246560	WNT10B	7480	HP:0000426	Prominent nasal bridge
OMIM:246560	WNT10B	7480	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:246560	WNT10B	7480	HP:0000175	Cleft palate
OMIM:246560	WNT10B	7480	HP:0000327	Hypoplasia of the maxilla
OMIM:246560	WNT10B	7480	HP:0000160	Narrow mouth
OMIM:246560	WNT10B	7480	HP:0002997	Abnormality of the ulna
OMIM:246560	WNT10B	7480	HP:0012385	Camptodactyly
OMIM:246560	WNT10B	7480	HP:0000007	Autosomal recessive inheritance
OMIM:246560	WNT10B	7480	HP:0000093	Proteinuria
OMIM:246560	WNT10B	7480	HP:0003028	Abnormality of the ankles
OMIM:246560	WNT10B	7480	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:246560	WNT10B	7480	HP:0003019	Abnormality of the wrist
OMIM:246560	WNT10B	7480	HP:0001163	Abnormality of the metacarpal bones
OMIM:246560	WNT10B	7480	HP:0001171	Split hand
OMIM:246560	WNT10B	7480	HP:0001249	Intellectual disability
OMIM:246560	WNT10B	7480	HP:0000089	Renal hypoplasia
OMIM:246560	WNT10B	7480	HP:0004322	Short stature
OMIM:246560	WNT10B	7480	HP:0000028	Cryptorchidism
OMIM:246560	WNT10B	7480	HP:0000308	Microretrognathia
OMIM:246560	WNT10B	7480	HP:0000256	Macrocephaly
OMIM:246560	WNT10B	7480	HP:0000639	Nystagmus
OMIM:246560	WNT10B	7480	HP:0008678	Renal hypoplasia/aplasia
OMIM:246560	WNT10B	7480	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:246560	WNT10B	7480	HP:0000545	Myopia
OMIM:246560	WNT10B	7480	HP:0008368	Tarsal synostosis
OMIM:246560	WNT10B	7480	HP:0000347	Micrognathia
OMIM:246560	WNT10B	7480	HP:0002916	Abnormality of chromosome segregation
OMIM:246560	WNT10B	7480	HP:0000006	Autosomal dominant inheritance
OMIM:246560	WNT10B	7480	HP:0000407	Sensorineural hearing impairment
OMIM:246560	WNT10B	7480	HP:0008404	Nail dystrophy
OMIM:246560	WNT10B	7480	HP:0000691	Microdontia
OMIM:246560	WNT10B	7480	HP:0100543	Cognitive impairment
OMIM:246560	WNT10B	7480	HP:0000368	Low-set, posteriorly rotated ears
OMIM:246560	WNT10B	7480	HP:0000218	High palate
OMIM:246560	WNT10B	7480	HP:0000083	Renal insufficiency
OMIM:246560	WNT10B	7480	HP:0000405	Conductive hearing impairment
OMIM:246560	WNT10B	7480	HP:0000377	Abnormality of the pinna
OMIM:246560	SHFM1	7979	HP:0000426	Prominent nasal bridge
OMIM:246560	SHFM1	7979	HP:0009601	Aplasia/Hypoplasia of the thumb
OMIM:246560	SHFM1	7979	HP:0000175	Cleft palate
OMIM:246560	SHFM1	7979	HP:0000327	Hypoplasia of the maxilla
OMIM:246560	SHFM1	7979	HP:0000160	Narrow mouth
OMIM:246560	SHFM1	7979	HP:0002997	Abnormality of the ulna
OMIM:246560	SHFM1	7979	HP:0012385	Camptodactyly
OMIM:246560	SHFM1	7979	HP:0000007	Autosomal recessive inheritance
OMIM:246560	SHFM1	7979	HP:0000093	Proteinuria
OMIM:246560	SHFM1	7979	HP:0003028	Abnormality of the ankles
OMIM:246560	SHFM1	7979	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:246560	SHFM1	7979	HP:0003019	Abnormality of the wrist
OMIM:246560	SHFM1	7979	HP:0001163	Abnormality of the metacarpal bones
OMIM:246560	SHFM1	7979	HP:0001171	Split hand
OMIM:246560	SHFM1	7979	HP:0001249	Intellectual disability
OMIM:246560	SHFM1	7979	HP:0000089	Renal hypoplasia
OMIM:246560	SHFM1	7979	HP:0004322	Short stature
OMIM:246560	SHFM1	7979	HP:0000028	Cryptorchidism
OMIM:246560	SHFM1	7979	HP:0000308	Microretrognathia
OMIM:246560	SHFM1	7979	HP:0000256	Macrocephaly
OMIM:246560	SHFM1	7979	HP:0000639	Nystagmus
OMIM:246560	SHFM1	7979	HP:0008678	Renal hypoplasia/aplasia
OMIM:246560	SHFM1	7979	HP:0010295	Aplasia/Hypoplasia of the tongue
OMIM:246560	SHFM1	7979	HP:0000545	Myopia
OMIM:246560	SHFM1	7979	HP:0008368	Tarsal synostosis
OMIM:246560	SHFM1	7979	HP:0000347	Micrognathia
OMIM:246560	SHFM1	7979	HP:0002916	Abnormality of chromosome segregation
OMIM:246560	SHFM1	7979	HP:0000006	Autosomal dominant inheritance
OMIM:246560	SHFM1	7979	HP:0000407	Sensorineural hearing impairment
OMIM:246560	SHFM1	7979	HP:0008404	Nail dystrophy
OMIM:246560	SHFM1	7979	HP:0000691	Microdontia
OMIM:246560	SHFM1	7979	HP:0100543	Cognitive impairment
OMIM:246560	SHFM1	7979	HP:0000368	Low-set, posteriorly rotated ears
OMIM:246560	SHFM1	7979	HP:0000218	High palate
OMIM:246560	SHFM1	7979	HP:0000083	Renal insufficiency
OMIM:246560	SHFM1	7979	HP:0000405	Conductive hearing impairment
OMIM:246560	SHFM1	7979	HP:0000377	Abnormality of the pinna
OMIM:613705	SUMO1	7341	HP:0100333	Unilateral cleft lip
OMIM:613705	SUMO1	7341	HP:0100334	Unilateral cleft palate
OMIM:602083	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:602083	PCDH15	65217	HP:0001270	Motor delay
OMIM:602083	PCDH15	65217	HP:0000510	Rod-cone dystrophy
OMIM:602083	PCDH15	65217	HP:0008527	Congenital sensorineural hearing impairment
OMIM:602083	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:602083	USH1C	10083	HP:0001270	Motor delay
OMIM:602083	USH1C	10083	HP:0000510	Rod-cone dystrophy
OMIM:602083	USH1C	10083	HP:0008527	Congenital sensorineural hearing impairment
OMIM:602083	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:602083	CIB2	10518	HP:0001270	Motor delay
OMIM:602083	CIB2	10518	HP:0000510	Rod-cone dystrophy
OMIM:602083	CIB2	10518	HP:0008527	Congenital sensorineural hearing impairment
OMIM:602083	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:602083	MYO7A	4647	HP:0001270	Motor delay
OMIM:602083	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:602083	MYO7A	4647	HP:0008527	Congenital sensorineural hearing impairment
OMIM:602083	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:602083	CDH23	64072	HP:0001270	Motor delay
OMIM:602083	CDH23	64072	HP:0000510	Rod-cone dystrophy
OMIM:602083	CDH23	64072	HP:0008527	Congenital sensorineural hearing impairment
OMIM:602083	USH1G	124590	HP:0000007	Autosomal recessive inheritance
OMIM:602083	USH1G	124590	HP:0001270	Motor delay
OMIM:602083	USH1G	124590	HP:0000510	Rod-cone dystrophy
OMIM:602083	USH1G	124590	HP:0008527	Congenital sensorineural hearing impairment
OMIM:105600	KIF23	9493	HP:0001972	Macrocytic anemia
OMIM:105600	KIF23	9493	HP:0000006	Autosomal dominant inheritance
OMIM:105600	KIF23	9493	HP:0000952	Jaundice
OMIM:614838	PROK2	60675	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	PROK2	60675	HP:0000458	Anosmia
OMIM:614838	PROK2	60675	HP:0000006	Autosomal dominant inheritance
OMIM:614838	PROKR2	128674	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	PROKR2	128674	HP:0000458	Anosmia
OMIM:614838	PROKR2	128674	HP:0000006	Autosomal dominant inheritance
OMIM:614838	SEMA3A	10371	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	SEMA3A	10371	HP:0000458	Anosmia
OMIM:614838	SEMA3A	10371	HP:0000006	Autosomal dominant inheritance
OMIM:614838	IL17RD	54756	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	IL17RD	54756	HP:0000458	Anosmia
OMIM:614838	IL17RD	54756	HP:0000006	Autosomal dominant inheritance
OMIM:614838	WDR11	55717	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	WDR11	55717	HP:0000458	Anosmia
OMIM:614838	WDR11	55717	HP:0000006	Autosomal dominant inheritance
OMIM:614838	KISS1	3814	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	KISS1	3814	HP:0000458	Anosmia
OMIM:614838	KISS1	3814	HP:0000006	Autosomal dominant inheritance
OMIM:614838	SOX10	6663	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	SOX10	6663	HP:0000458	Anosmia
OMIM:614838	SOX10	6663	HP:0000006	Autosomal dominant inheritance
OMIM:614838	FEZF1	389549	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	FEZF1	389549	HP:0000458	Anosmia
OMIM:614838	FEZF1	389549	HP:0000006	Autosomal dominant inheritance
OMIM:614838	GNRH1	2796	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	GNRH1	2796	HP:0000458	Anosmia
OMIM:614838	GNRH1	2796	HP:0000006	Autosomal dominant inheritance
OMIM:614838	FGF8	2253	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	FGF8	2253	HP:0000458	Anosmia
OMIM:614838	FGF8	2253	HP:0000006	Autosomal dominant inheritance
OMIM:614838	GNRHR	2798	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	GNRHR	2798	HP:0000458	Anosmia
OMIM:614838	GNRHR	2798	HP:0000006	Autosomal dominant inheritance
OMIM:614838	ANOS1	3730	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	ANOS1	3730	HP:0000458	Anosmia
OMIM:614838	ANOS1	3730	HP:0000006	Autosomal dominant inheritance
OMIM:614838	TAC3	6866	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	TAC3	6866	HP:0000458	Anosmia
OMIM:614838	TAC3	6866	HP:0000006	Autosomal dominant inheritance
OMIM:614838	HS6ST1	9394	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	HS6ST1	9394	HP:0000458	Anosmia
OMIM:614838	HS6ST1	9394	HP:0000006	Autosomal dominant inheritance
OMIM:614838	CHD7	55636	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	CHD7	55636	HP:0000458	Anosmia
OMIM:614838	CHD7	55636	HP:0000006	Autosomal dominant inheritance
OMIM:614838	FGFR1	2260	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	FGFR1	2260	HP:0000458	Anosmia
OMIM:614838	FGFR1	2260	HP:0000006	Autosomal dominant inheritance
OMIM:614838	HESX1	8820	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	HESX1	8820	HP:0000458	Anosmia
OMIM:614838	HESX1	8820	HP:0000006	Autosomal dominant inheritance
OMIM:614838	TACR3	6870	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	TACR3	6870	HP:0000458	Anosmia
OMIM:614838	TACR3	6870	HP:0000006	Autosomal dominant inheritance
OMIM:614838	FGF17	8822	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	FGF17	8822	HP:0000458	Anosmia
OMIM:614838	FGF17	8822	HP:0000006	Autosomal dominant inheritance
OMIM:614838	FLRT3	23767	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	FLRT3	23767	HP:0000458	Anosmia
OMIM:614838	FLRT3	23767	HP:0000006	Autosomal dominant inheritance
OMIM:614838	DUSP6	1848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	DUSP6	1848	HP:0000458	Anosmia
OMIM:614838	DUSP6	1848	HP:0000006	Autosomal dominant inheritance
OMIM:614838	SPRY4	81848	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	SPRY4	81848	HP:0000458	Anosmia
OMIM:614838	SPRY4	81848	HP:0000006	Autosomal dominant inheritance
OMIM:614838	KISS1R	84634	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	KISS1R	84634	HP:0000458	Anosmia
OMIM:614838	KISS1R	84634	HP:0000006	Autosomal dominant inheritance
OMIM:614838	NSMF	26012	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:614838	NSMF	26012	HP:0000458	Anosmia
OMIM:614838	NSMF	26012	HP:0000006	Autosomal dominant inheritance
OMIM:600329	OSTM1	28962	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:600329	OSTM1	28962	HP:0001274	Agenesis of corpus callosum
OMIM:600329	OSTM1	28962	HP:0002059	Cerebral atrophy
OMIM:600329	OSTM1	28962	HP:0001522	Death in infancy
OMIM:172700	MAPT	4137	HP:0002463	Language impairment
OMIM:172700	MAPT	4137	HP:0000733	Stereotypic behavior
OMIM:172700	MAPT	4137	HP:0000737	Irritability
OMIM:172700	MAPT	4137	HP:0000006	Autosomal dominant inheritance
OMIM:172700	MAPT	4137	HP:0002171	Gliosis
OMIM:172700	MAPT	4137	HP:0003745	Sporadic
OMIM:172700	MAPT	4137	HP:0000741	Apathy
OMIM:172700	MAPT	4137	HP:0002529	Neuronal loss in central nervous system
OMIM:172700	PSEN1	5663	HP:0002463	Language impairment
OMIM:172700	PSEN1	5663	HP:0000733	Stereotypic behavior
OMIM:172700	PSEN1	5663	HP:0000737	Irritability
OMIM:172700	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:172700	PSEN1	5663	HP:0002171	Gliosis
OMIM:172700	PSEN1	5663	HP:0003745	Sporadic
OMIM:172700	PSEN1	5663	HP:0000741	Apathy
OMIM:172700	PSEN1	5663	HP:0002529	Neuronal loss in central nervous system
OMIM:148050	ANKRD11	29123	HP:0000316	Hypertelorism
OMIM:148050	ANKRD11	29123	HP:0001572	Macrodontia
OMIM:148050	ANKRD11	29123	HP:0002648	Abnormality of calvarial morphology
OMIM:148050	ANKRD11	29123	HP:0000311	Round face
OMIM:148050	ANKRD11	29123	HP:0001159	Syndactyly
OMIM:148050	ANKRD11	29123	HP:0000368	Low-set, posteriorly rotated ears
OMIM:148050	ANKRD11	29123	HP:0000365	Hearing impairment
OMIM:148050	ANKRD11	29123	HP:0002162	Low posterior hairline
OMIM:148050	ANKRD11	29123	HP:0000325	Triangular face
OMIM:148050	ANKRD11	29123	HP:0000400	Macrotia
OMIM:148050	ANKRD11	29123	HP:0000772	Abnormality of the ribs
OMIM:148050	ANKRD11	29123	HP:0002750	Delayed skeletal maturation
OMIM:148050	ANKRD11	29123	HP:0009804	Reduced number of teeth
OMIM:148050	ANKRD11	29123	HP:0004322	Short stature
OMIM:148050	ANKRD11	29123	HP:0000954	Single transverse palmar crease
OMIM:148050	ANKRD11	29123	HP:0000343	Long philtrum
OMIM:148050	ANKRD11	29123	HP:0000470	Short neck
OMIM:148050	ANKRD11	29123	HP:0001156	Brachydactyly syndrome
OMIM:148050	ANKRD11	29123	HP:0000006	Autosomal dominant inheritance
OMIM:148050	ANKRD11	29123	HP:0003312	Abnormal form of the vertebral bodies
OMIM:148050	ANKRD11	29123	HP:0000307	Pointed chin
OMIM:148050	ANKRD11	29123	HP:0002823	Abnormality of the femur
OMIM:148050	ANKRD11	29123	HP:0000252	Microcephaly
OMIM:148050	ANKRD11	29123	HP:0000682	Abnormality of dental enamel
OMIM:148050	ANKRD11	29123	HP:0000028	Cryptorchidism
OMIM:148050	ANKRD11	29123	HP:0000574	Thick eyebrow
OMIM:148050	ANKRD11	29123	HP:0001162	Postaxial hand polydactyly
OMIM:148050	ANKRD11	29123	HP:0000160	Narrow mouth
OMIM:148050	ANKRD11	29123	HP:0000175	Cleft palate
OMIM:148050	ANKRD11	29123	HP:0002353	EEG abnormality
OMIM:148050	ANKRD11	29123	HP:0000294	Low anterior hairline
OMIM:148050	ANKRD11	29123	HP:0000324	Facial asymmetry
OMIM:148050	ANKRD11	29123	HP:0001263	Global developmental delay
OMIM:148050	ANKRD11	29123	HP:0000463	Anteverted nares
OMIM:148050	ANKRD11	29123	HP:0000506	Telecanthus
OMIM:148050	ANKRD11	29123	HP:0100543	Cognitive impairment
OMIM:148050	ANKRD11	29123	HP:0006101	Finger syndactyly
OMIM:148050	ANKRD11	29123	HP:0000486	Strabismus
OMIM:148050	ANKRD11	29123	HP:0009466	Radial deviation of finger
OMIM:148050	ANKRD11	29123	HP:0001249	Intellectual disability
OMIM:148050	ANKRD11	29123	HP:0100840	Aplasia/Hypoplasia of the eyebrow
OMIM:148050	ANKRD11	29123	HP:0000430	Underdeveloped nasal alae
OMIM:148050	ANKRD11	29123	HP:0002948	Vertebral fusion
OMIM:148050	ANKRD11	29123	HP:0030084	Clinodactyly
OMIM:182410	CECR1	51816	HP:0002170	Intracranial hemorrhage
OMIM:182410	CECR1	51816	HP:0000822	Hypertension
OMIM:182410	CECR1	51816	HP:0001063	Acrocyanosis
OMIM:182410	CECR1	51816	HP:0002167	Neurological speech impairment
OMIM:182410	CECR1	51816	HP:0001337	Tremor
OMIM:182410	CECR1	51816	HP:0002321	Vertigo
OMIM:182410	CECR1	51816	HP:0001268	Mental deterioration
OMIM:182410	CECR1	51816	HP:0001297	Stroke
OMIM:182410	CECR1	51816	HP:0002960	Autoimmunity
OMIM:182410	CECR1	51816	HP:0000505	Visual impairment
OMIM:182410	CECR1	51816	HP:0100576	Amaurosis fugax
OMIM:182410	CECR1	51816	HP:0000965	Cutis marmorata
OMIM:182410	CECR1	51816	HP:0001260	Dysarthria
OMIM:182410	CECR1	51816	HP:0002376	Developmental regression
OMIM:182410	CECR1	51816	HP:0002637	Cerebral ischemia
OMIM:182410	CECR1	51816	HP:0000112	Nephropathy
OMIM:182410	CECR1	51816	HP:0000708	Behavioral abnormality
OMIM:182410	CECR1	51816	HP:0003676	Progressive
OMIM:182410	CECR1	51816	HP:0002076	Migraine
OMIM:182410	CECR1	51816	HP:0002072	Chorea
OMIM:182410	CECR1	51816	HP:0002354	Memory impairment
OMIM:182410	CECR1	51816	HP:0001324	Muscle weakness
OMIM:182410	CECR1	51816	HP:0003745	Sporadic
OMIM:182410	CECR1	51816	HP:0010628	Facial palsy
OMIM:182410	CECR1	51816	HP:0000006	Autosomal dominant inheritance
OMIM:182410	CECR1	51816	HP:0002315	Headache
OMIM:182410	CECR1	51816	HP:0001250	Seizures
OMIM:182410	CECR1	51816	HP:0004374	Hemiplegia/hemiparesis
OMIM:614019	NDE1	54820	HP:0001250	Seizures
OMIM:614019	NDE1	54820	HP:0001274	Agenesis of corpus callosum
OMIM:614019	NDE1	54820	HP:0004322	Short stature
OMIM:614019	NDE1	54820	HP:0000252	Microcephaly
OMIM:614019	NDE1	54820	HP:0001339	Lissencephaly
OMIM:614019	NDE1	54820	HP:0003577	Congenital onset
OMIM:614019	NDE1	54820	HP:0002187	Intellectual disability, profound
OMIM:614019	NDE1	54820	HP:0001263	Global developmental delay
OMIM:614019	NDE1	54820	HP:0000007	Autosomal recessive inheritance
OMIM:614019	NDE1	54820	HP:0001276	Hypertonia
OMIM:614019	NDE1	54820	HP:0009879	Cortical gyral simplification
OMIM:613767	RLBP1	6017	HP:0007994	Peripheral visual field loss
OMIM:613767	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613767	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613767	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613767	RLBP1	6017	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	RLBP1	6017	HP:0000608	Macular degeneration
OMIM:613767	SPATA7	55812	HP:0007994	Peripheral visual field loss
OMIM:613767	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613767	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613767	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613767	SPATA7	55812	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	SPATA7	55812	HP:0000608	Macular degeneration
OMIM:613767	ARL6	84100	HP:0007994	Peripheral visual field loss
OMIM:613767	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613767	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613767	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613767	ARL6	84100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	ARL6	84100	HP:0000608	Macular degeneration
OMIM:613767	CERKL	375298	HP:0007994	Peripheral visual field loss
OMIM:613767	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613767	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613767	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613767	CERKL	375298	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	CERKL	375298	HP:0000608	Macular degeneration
OMIM:613767	PRPF31	26121	HP:0007994	Peripheral visual field loss
OMIM:613767	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613767	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613767	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613767	PRPF31	26121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	PRPF31	26121	HP:0000608	Macular degeneration
OMIM:613767	TTC8	123016	HP:0007994	Peripheral visual field loss
OMIM:613767	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613767	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613767	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613767	TTC8	123016	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	TTC8	123016	HP:0000608	Macular degeneration
OMIM:613767	PROM1	8842	HP:0007994	Peripheral visual field loss
OMIM:613767	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613767	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613767	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613767	PROM1	8842	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	PROM1	8842	HP:0000608	Macular degeneration
OMIM:613767	LRAT	9227	HP:0007994	Peripheral visual field loss
OMIM:613767	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613767	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613767	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613767	LRAT	9227	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	LRAT	9227	HP:0000608	Macular degeneration
OMIM:613767	IFT140	9742	HP:0007994	Peripheral visual field loss
OMIM:613767	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613767	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613767	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613767	IFT140	9742	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	IFT140	9742	HP:0000608	Macular degeneration
OMIM:613767	BEST1	7439	HP:0007994	Peripheral visual field loss
OMIM:613767	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613767	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613767	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613767	BEST1	7439	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	BEST1	7439	HP:0000608	Macular degeneration
OMIM:613767	NEK2	4751	HP:0007994	Peripheral visual field loss
OMIM:613767	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613767	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613767	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613767	NEK2	4751	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	NEK2	4751	HP:0000608	Macular degeneration
OMIM:613767	ARL2BP	23568	HP:0007994	Peripheral visual field loss
OMIM:613767	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613767	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613767	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613767	ARL2BP	23568	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	ARL2BP	23568	HP:0000608	Macular degeneration
OMIM:613767	NR2E3	10002	HP:0007994	Peripheral visual field loss
OMIM:613767	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613767	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613767	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613767	NR2E3	10002	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	NR2E3	10002	HP:0000608	Macular degeneration
OMIM:613767	EYS	346007	HP:0007994	Peripheral visual field loss
OMIM:613767	EYS	346007	HP:0000662	Nyctalopia
OMIM:613767	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613767	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613767	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	EYS	346007	HP:0000608	Macular degeneration
OMIM:613767	MAK	4117	HP:0007994	Peripheral visual field loss
OMIM:613767	MAK	4117	HP:0000662	Nyctalopia
OMIM:613767	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613767	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613767	MAK	4117	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	MAK	4117	HP:0000608	Macular degeneration
OMIM:613767	SAG	6295	HP:0007994	Peripheral visual field loss
OMIM:613767	SAG	6295	HP:0000662	Nyctalopia
OMIM:613767	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613767	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613767	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	SAG	6295	HP:0000608	Macular degeneration
OMIM:613767	ABCA4	24	HP:0007994	Peripheral visual field loss
OMIM:613767	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613767	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613767	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613767	ABCA4	24	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	ABCA4	24	HP:0000608	Macular degeneration
OMIM:613767	PDE6A	5145	HP:0007994	Peripheral visual field loss
OMIM:613767	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613767	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613767	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613767	PDE6A	5145	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	PDE6A	5145	HP:0000608	Macular degeneration
OMIM:613767	PDE6G	5148	HP:0007994	Peripheral visual field loss
OMIM:613767	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613767	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613767	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613767	PDE6G	5148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	PDE6G	5148	HP:0000608	Macular degeneration
OMIM:613767	IMPDH1	3614	HP:0007994	Peripheral visual field loss
OMIM:613767	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613767	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613767	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613767	IMPDH1	3614	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	IMPDH1	3614	HP:0000608	Macular degeneration
OMIM:613767	OFD1	8481	HP:0007994	Peripheral visual field loss
OMIM:613767	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613767	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613767	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613767	OFD1	8481	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	OFD1	8481	HP:0000608	Macular degeneration
OMIM:613767	GUCA1B	2979	HP:0007994	Peripheral visual field loss
OMIM:613767	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613767	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613767	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613767	GUCA1B	2979	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	GUCA1B	2979	HP:0000608	Macular degeneration
OMIM:613767	NRL	4901	HP:0007994	Peripheral visual field loss
OMIM:613767	NRL	4901	HP:0000662	Nyctalopia
OMIM:613767	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613767	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613767	NRL	4901	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	NRL	4901	HP:0000608	Macular degeneration
OMIM:613767	PDE6B	5158	HP:0007994	Peripheral visual field loss
OMIM:613767	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613767	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613767	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613767	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	PDE6B	5158	HP:0000608	Macular degeneration
OMIM:613767	KLHL7	55975	HP:0007994	Peripheral visual field loss
OMIM:613767	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613767	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613767	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613767	KLHL7	55975	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	KLHL7	55975	HP:0000608	Macular degeneration
OMIM:613767	PRPF4	9128	HP:0007994	Peripheral visual field loss
OMIM:613767	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613767	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613767	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613767	PRPF4	9128	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	PRPF4	9128	HP:0000608	Macular degeneration
OMIM:613767	PRPF3	9129	HP:0007994	Peripheral visual field loss
OMIM:613767	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613767	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613767	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613767	PRPF3	9129	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	PRPF3	9129	HP:0000608	Macular degeneration
OMIM:613767	FAM161A	84140	HP:0007994	Peripheral visual field loss
OMIM:613767	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613767	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613767	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613767	FAM161A	84140	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	FAM161A	84140	HP:0000608	Macular degeneration
OMIM:613767	IFT172	26160	HP:0007994	Peripheral visual field loss
OMIM:613767	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613767	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613767	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613767	IFT172	26160	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	IFT172	26160	HP:0000608	Macular degeneration
OMIM:613767	KIZ	55857	HP:0007994	Peripheral visual field loss
OMIM:613767	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613767	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613767	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613767	KIZ	55857	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	KIZ	55857	HP:0000608	Macular degeneration
OMIM:613767	CDHR1	92211	HP:0007994	Peripheral visual field loss
OMIM:613767	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613767	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613767	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613767	CDHR1	92211	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	CDHR1	92211	HP:0000608	Macular degeneration
OMIM:613767	ZNF408	79797	HP:0007994	Peripheral visual field loss
OMIM:613767	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613767	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613767	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613767	ZNF408	79797	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	ZNF408	79797	HP:0000608	Macular degeneration
OMIM:613767	RBP3	5949	HP:0007994	Peripheral visual field loss
OMIM:613767	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613767	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613767	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613767	RBP3	5949	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	RBP3	5949	HP:0000608	Macular degeneration
OMIM:613767	HGSNAT	138050	HP:0007994	Peripheral visual field loss
OMIM:613767	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613767	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613767	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613767	HGSNAT	138050	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	HGSNAT	138050	HP:0000608	Macular degeneration
OMIM:613767	FSCN2	25794	HP:0007994	Peripheral visual field loss
OMIM:613767	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613767	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613767	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613767	FSCN2	25794	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	FSCN2	25794	HP:0000608	Macular degeneration
OMIM:613767	PRCD	768206	HP:0007994	Peripheral visual field loss
OMIM:613767	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613767	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613767	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613767	PRCD	768206	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	PRCD	768206	HP:0000608	Macular degeneration
OMIM:613767	BBS2	583	HP:0007994	Peripheral visual field loss
OMIM:613767	BBS2	583	HP:0000662	Nyctalopia
OMIM:613767	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613767	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613767	BBS2	583	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	BBS2	583	HP:0000608	Macular degeneration
OMIM:613767	RDH12	145226	HP:0007994	Peripheral visual field loss
OMIM:613767	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613767	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613767	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613767	RDH12	145226	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	RDH12	145226	HP:0000608	Macular degeneration
OMIM:613767	PRPH2	5961	HP:0007994	Peripheral visual field loss
OMIM:613767	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613767	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613767	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613767	PRPH2	5961	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	PRPH2	5961	HP:0000608	Macular degeneration
OMIM:613767	DHDDS	79947	HP:0007994	Peripheral visual field loss
OMIM:613767	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613767	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613767	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613767	DHDDS	79947	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	DHDDS	79947	HP:0000608	Macular degeneration
OMIM:613767	ROM1	6094	HP:0007994	Peripheral visual field loss
OMIM:613767	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613767	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613767	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613767	ROM1	6094	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	ROM1	6094	HP:0000608	Macular degeneration
OMIM:613767	C2ORF71	388939	HP:0007994	Peripheral visual field loss
OMIM:613767	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613767	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613767	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613767	C2ORF71	388939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	C2ORF71	388939	HP:0000608	Macular degeneration
OMIM:613767	RP9	6100	HP:0007994	Peripheral visual field loss
OMIM:613767	RP9	6100	HP:0000662	Nyctalopia
OMIM:613767	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613767	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613767	RP9	6100	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	RP9	6100	HP:0000608	Macular degeneration
OMIM:613767	PRPF6	24148	HP:0007994	Peripheral visual field loss
OMIM:613767	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613767	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613767	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613767	PRPF6	24148	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	PRPF6	24148	HP:0000608	Macular degeneration
OMIM:613767	RP1	6101	HP:0007994	Peripheral visual field loss
OMIM:613767	RP1	6101	HP:0000662	Nyctalopia
OMIM:613767	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613767	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613767	RP1	6101	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	RP1	6101	HP:0000608	Macular degeneration
OMIM:613767	RP2	6102	HP:0007994	Peripheral visual field loss
OMIM:613767	RP2	6102	HP:0000662	Nyctalopia
OMIM:613767	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613767	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613767	RP2	6102	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	RP2	6102	HP:0000608	Macular degeneration
OMIM:613767	RPGR	6103	HP:0007994	Peripheral visual field loss
OMIM:613767	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613767	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613767	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613767	RPGR	6103	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	RPGR	6103	HP:0000608	Macular degeneration
OMIM:613767	SEMA4A	64218	HP:0007994	Peripheral visual field loss
OMIM:613767	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613767	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613767	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613767	SEMA4A	64218	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	SEMA4A	64218	HP:0000608	Macular degeneration
OMIM:613767	C8ORF37	157657	HP:0007994	Peripheral visual field loss
OMIM:613767	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613767	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613767	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613767	C8ORF37	157657	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	C8ORF37	157657	HP:0000608	Macular degeneration
OMIM:613767	IDH3B	3420	HP:0007994	Peripheral visual field loss
OMIM:613767	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613767	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613767	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613767	IDH3B	3420	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	IDH3B	3420	HP:0000608	Macular degeneration
OMIM:613767	MERTK	10461	HP:0007994	Peripheral visual field loss
OMIM:613767	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613767	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613767	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613767	MERTK	10461	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	MERTK	10461	HP:0000608	Macular degeneration
OMIM:613767	PRPF8	10594	HP:0007994	Peripheral visual field loss
OMIM:613767	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613767	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613767	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613767	PRPF8	10594	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	PRPF8	10594	HP:0000608	Macular degeneration
OMIM:613767	TOPORS	10210	HP:0007994	Peripheral visual field loss
OMIM:613767	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613767	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613767	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613767	TOPORS	10210	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	TOPORS	10210	HP:0000608	Macular degeneration
OMIM:613767	USH2A	7399	HP:0007994	Peripheral visual field loss
OMIM:613767	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613767	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613767	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613767	USH2A	7399	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	USH2A	7399	HP:0000608	Macular degeneration
OMIM:613767	RPE65	6121	HP:0007994	Peripheral visual field loss
OMIM:613767	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613767	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613767	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613767	RPE65	6121	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	RPE65	6121	HP:0000608	Macular degeneration
OMIM:613767	CLRN1	7401	HP:0007994	Peripheral visual field loss
OMIM:613767	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613767	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613767	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613767	CLRN1	7401	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	CLRN1	7401	HP:0000608	Macular degeneration
OMIM:613767	CNGB1	1258	HP:0007994	Peripheral visual field loss
OMIM:613767	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613767	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613767	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613767	CNGB1	1258	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	CNGB1	1258	HP:0000608	Macular degeneration
OMIM:613767	RGR	5995	HP:0007994	Peripheral visual field loss
OMIM:613767	RGR	5995	HP:0000662	Nyctalopia
OMIM:613767	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613767	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613767	RGR	5995	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	RGR	5995	HP:0000608	Macular degeneration
OMIM:613767	CNGA1	1259	HP:0007994	Peripheral visual field loss
OMIM:613767	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613767	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613767	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613767	CNGA1	1259	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	CNGA1	1259	HP:0000608	Macular degeneration
OMIM:613767	TUB	7275	HP:0007994	Peripheral visual field loss
OMIM:613767	TUB	7275	HP:0000662	Nyctalopia
OMIM:613767	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613767	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613767	TUB	7275	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	TUB	7275	HP:0000608	Macular degeneration
OMIM:613767	SNRNP200	23020	HP:0007994	Peripheral visual field loss
OMIM:613767	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613767	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613767	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613767	SNRNP200	23020	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	SNRNP200	23020	HP:0000608	Macular degeneration
OMIM:613767	SLC7A14	57709	HP:0007994	Peripheral visual field loss
OMIM:613767	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613767	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613767	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613767	SLC7A14	57709	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	SLC7A14	57709	HP:0000608	Macular degeneration
OMIM:613767	TULP1	7287	HP:0007994	Peripheral visual field loss
OMIM:613767	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613767	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613767	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613767	TULP1	7287	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	TULP1	7287	HP:0000608	Macular degeneration
OMIM:613767	RHO	6010	HP:0007994	Peripheral visual field loss
OMIM:613767	RHO	6010	HP:0000662	Nyctalopia
OMIM:613767	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613767	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613767	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	RHO	6010	HP:0000608	Macular degeneration
OMIM:613767	CA4	762	HP:0007994	Peripheral visual field loss
OMIM:613767	CA4	762	HP:0000662	Nyctalopia
OMIM:613767	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613767	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613767	CA4	762	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	CA4	762	HP:0000608	Macular degeneration
OMIM:613767	CRB1	23418	HP:0007994	Peripheral visual field loss
OMIM:613767	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613767	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613767	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613767	CRB1	23418	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	CRB1	23418	HP:0000608	Macular degeneration
OMIM:613767	IMPG2	50939	HP:0007994	Peripheral visual field loss
OMIM:613767	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613767	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613767	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613767	IMPG2	50939	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	IMPG2	50939	HP:0000608	Macular degeneration
OMIM:613767	ZNF513	130557	HP:0007994	Peripheral visual field loss
OMIM:613767	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613767	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613767	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613767	ZNF513	130557	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	ZNF513	130557	HP:0000608	Macular degeneration
OMIM:613767	CRX	1406	HP:0007994	Peripheral visual field loss
OMIM:613767	CRX	1406	HP:0000662	Nyctalopia
OMIM:613767	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613767	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:613767	CRX	1406	HP:0007737	Bone spicule pigmentation of the retina
OMIM:613767	CRX	1406	HP:0000608	Macular degeneration
OMIM:607745	SCN2A	6326	HP:0000961	Cyanosis
OMIM:607745	SCN2A	6326	HP:0011146	Dialeptic seizures
OMIM:607745	SCN2A	6326	HP:0000006	Autosomal dominant inheritance
OMIM:607745	SCN2A	6326	HP:0007359	Focal seizures
OMIM:607745	SCN2A	6326	HP:0007334	Bilateral convulsive seizures
OMIM:607745	KCNQ2	3785	HP:0000961	Cyanosis
OMIM:607745	KCNQ2	3785	HP:0011146	Dialeptic seizures
OMIM:607745	KCNQ2	3785	HP:0000006	Autosomal dominant inheritance
OMIM:607745	KCNQ2	3785	HP:0007359	Focal seizures
OMIM:607745	KCNQ2	3785	HP:0007334	Bilateral convulsive seizures
OMIM:607745	KCNQ3	3786	HP:0000961	Cyanosis
OMIM:607745	KCNQ3	3786	HP:0011146	Dialeptic seizures
OMIM:607745	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:607745	KCNQ3	3786	HP:0007359	Focal seizures
OMIM:607745	KCNQ3	3786	HP:0007334	Bilateral convulsive seizures
OMIM:607745	PRRT2	112476	HP:0000961	Cyanosis
OMIM:607745	PRRT2	112476	HP:0011146	Dialeptic seizures
OMIM:607745	PRRT2	112476	HP:0000006	Autosomal dominant inheritance
OMIM:607745	PRRT2	112476	HP:0007359	Focal seizures
OMIM:607745	PRRT2	112476	HP:0007334	Bilateral convulsive seizures
OMIM:189500	MSX1	4487	HP:0000147	Polycystic ovaries
OMIM:189500	MSX1	4487	HP:0002213	Fine hair
OMIM:189500	MSX1	4487	HP:0009804	Reduced number of teeth
OMIM:189500	MSX1	4487	HP:0000232	Everted lower lip vermilion
OMIM:189500	MSX1	4487	HP:0000684	Delayed eruption of teeth
OMIM:189500	MSX1	4487	HP:0008070	Sparse hair
OMIM:189500	MSX1	4487	HP:0001798	Anonychia
OMIM:189500	MSX1	4487	HP:0000006	Autosomal dominant inheritance
OMIM:189500	MSX1	4487	HP:0006349	Agenesis of permanent teeth
OMIM:189500	MSX1	4487	HP:0001800	Hypoplastic toenails
OMIM:189500	MSX1	4487	HP:0001231	Abnormality of the fingernails
OMIM:189500	MSX1	4487	HP:0001792	Small nail
OMIM:607941	GATA4	2626	HP:0000006	Autosomal dominant inheritance
OMIM:607941	GATA4	2626	HP:0001631	Atria septal defect
OMIM:607941	GATA4	2626	HP:0006695	Atrioventricular canal defect
OMIM:607941	GATA4	2626	HP:0001629	Ventricular septal defect
OMIM:615181	B4GAT1	11041	HP:0000618	Blindness
OMIM:615181	B4GAT1	11041	HP:0000609	Optic nerve hypoplasia
OMIM:615181	B4GAT1	11041	HP:0001263	Global developmental delay
OMIM:615181	B4GAT1	11041	HP:0001321	Cerebellar hypoplasia
OMIM:615181	B4GAT1	11041	HP:0002126	Polymicrogyria
OMIM:615181	B4GAT1	11041	HP:0012110	Hypoplasia of the pons
OMIM:615181	B4GAT1	11041	HP:0000007	Autosomal recessive inheritance
OMIM:615181	B4GAT1	11041	HP:0000238	Hydrocephalus
OMIM:615181	B4GAT1	11041	HP:0002350	Cerebellar cyst
OMIM:615181	B4GAT1	11041	HP:0000568	Microphthalmia
OMIM:615181	B4GAT1	11041	HP:0003560	Muscular dystrophy
OMIM:615181	B4GAT1	11041	HP:0007033	Cerebellar dysplasia
OMIM:615181	B4GAT1	11041	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	B4GAT1	11041	HP:0000541	Retinal detachment
OMIM:615181	B4GAT1	11041	HP:0000518	Cataract
OMIM:615181	B4GAT1	11041	HP:0007260	Type II lissencephaly
OMIM:615181	B4GAT1	11041	HP:0000545	Myopia
OMIM:615181	B4GAT1	11041	HP:0006829	Severe muscular hypotonia
OMIM:615181	POMT2	29954	HP:0000618	Blindness
OMIM:615181	POMT2	29954	HP:0000609	Optic nerve hypoplasia
OMIM:615181	POMT2	29954	HP:0001263	Global developmental delay
OMIM:615181	POMT2	29954	HP:0001321	Cerebellar hypoplasia
OMIM:615181	POMT2	29954	HP:0002126	Polymicrogyria
OMIM:615181	POMT2	29954	HP:0012110	Hypoplasia of the pons
OMIM:615181	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:615181	POMT2	29954	HP:0000238	Hydrocephalus
OMIM:615181	POMT2	29954	HP:0002350	Cerebellar cyst
OMIM:615181	POMT2	29954	HP:0000568	Microphthalmia
OMIM:615181	POMT2	29954	HP:0003560	Muscular dystrophy
OMIM:615181	POMT2	29954	HP:0007033	Cerebellar dysplasia
OMIM:615181	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	POMT2	29954	HP:0000541	Retinal detachment
OMIM:615181	POMT2	29954	HP:0000518	Cataract
OMIM:615181	POMT2	29954	HP:0007260	Type II lissencephaly
OMIM:615181	POMT2	29954	HP:0000545	Myopia
OMIM:615181	POMT2	29954	HP:0006829	Severe muscular hypotonia
OMIM:615181	COL4A1	1282	HP:0000618	Blindness
OMIM:615181	COL4A1	1282	HP:0000609	Optic nerve hypoplasia
OMIM:615181	COL4A1	1282	HP:0001263	Global developmental delay
OMIM:615181	COL4A1	1282	HP:0001321	Cerebellar hypoplasia
OMIM:615181	COL4A1	1282	HP:0002126	Polymicrogyria
OMIM:615181	COL4A1	1282	HP:0012110	Hypoplasia of the pons
OMIM:615181	COL4A1	1282	HP:0000007	Autosomal recessive inheritance
OMIM:615181	COL4A1	1282	HP:0000238	Hydrocephalus
OMIM:615181	COL4A1	1282	HP:0002350	Cerebellar cyst
OMIM:615181	COL4A1	1282	HP:0000568	Microphthalmia
OMIM:615181	COL4A1	1282	HP:0003560	Muscular dystrophy
OMIM:615181	COL4A1	1282	HP:0007033	Cerebellar dysplasia
OMIM:615181	COL4A1	1282	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	COL4A1	1282	HP:0000541	Retinal detachment
OMIM:615181	COL4A1	1282	HP:0000518	Cataract
OMIM:615181	COL4A1	1282	HP:0007260	Type II lissencephaly
OMIM:615181	COL4A1	1282	HP:0000545	Myopia
OMIM:615181	COL4A1	1282	HP:0006829	Severe muscular hypotonia
OMIM:615181	POMK	84197	HP:0000618	Blindness
OMIM:615181	POMK	84197	HP:0000609	Optic nerve hypoplasia
OMIM:615181	POMK	84197	HP:0001263	Global developmental delay
OMIM:615181	POMK	84197	HP:0001321	Cerebellar hypoplasia
OMIM:615181	POMK	84197	HP:0002126	Polymicrogyria
OMIM:615181	POMK	84197	HP:0012110	Hypoplasia of the pons
OMIM:615181	POMK	84197	HP:0000007	Autosomal recessive inheritance
OMIM:615181	POMK	84197	HP:0000238	Hydrocephalus
OMIM:615181	POMK	84197	HP:0002350	Cerebellar cyst
OMIM:615181	POMK	84197	HP:0000568	Microphthalmia
OMIM:615181	POMK	84197	HP:0003560	Muscular dystrophy
OMIM:615181	POMK	84197	HP:0007033	Cerebellar dysplasia
OMIM:615181	POMK	84197	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	POMK	84197	HP:0000541	Retinal detachment
OMIM:615181	POMK	84197	HP:0000518	Cataract
OMIM:615181	POMK	84197	HP:0007260	Type II lissencephaly
OMIM:615181	POMK	84197	HP:0000545	Myopia
OMIM:615181	POMK	84197	HP:0006829	Severe muscular hypotonia
OMIM:615181	GMPPB	29925	HP:0000618	Blindness
OMIM:615181	GMPPB	29925	HP:0000609	Optic nerve hypoplasia
OMIM:615181	GMPPB	29925	HP:0001263	Global developmental delay
OMIM:615181	GMPPB	29925	HP:0001321	Cerebellar hypoplasia
OMIM:615181	GMPPB	29925	HP:0002126	Polymicrogyria
OMIM:615181	GMPPB	29925	HP:0012110	Hypoplasia of the pons
OMIM:615181	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:615181	GMPPB	29925	HP:0000238	Hydrocephalus
OMIM:615181	GMPPB	29925	HP:0002350	Cerebellar cyst
OMIM:615181	GMPPB	29925	HP:0000568	Microphthalmia
OMIM:615181	GMPPB	29925	HP:0003560	Muscular dystrophy
OMIM:615181	GMPPB	29925	HP:0007033	Cerebellar dysplasia
OMIM:615181	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	GMPPB	29925	HP:0000541	Retinal detachment
OMIM:615181	GMPPB	29925	HP:0000518	Cataract
OMIM:615181	GMPPB	29925	HP:0007260	Type II lissencephaly
OMIM:615181	GMPPB	29925	HP:0000545	Myopia
OMIM:615181	GMPPB	29925	HP:0006829	Severe muscular hypotonia
OMIM:615181	DAG1	1605	HP:0000618	Blindness
OMIM:615181	DAG1	1605	HP:0000609	Optic nerve hypoplasia
OMIM:615181	DAG1	1605	HP:0001263	Global developmental delay
OMIM:615181	DAG1	1605	HP:0001321	Cerebellar hypoplasia
OMIM:615181	DAG1	1605	HP:0002126	Polymicrogyria
OMIM:615181	DAG1	1605	HP:0012110	Hypoplasia of the pons
OMIM:615181	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:615181	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:615181	DAG1	1605	HP:0002350	Cerebellar cyst
OMIM:615181	DAG1	1605	HP:0000568	Microphthalmia
OMIM:615181	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:615181	DAG1	1605	HP:0007033	Cerebellar dysplasia
OMIM:615181	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	DAG1	1605	HP:0000541	Retinal detachment
OMIM:615181	DAG1	1605	HP:0000518	Cataract
OMIM:615181	DAG1	1605	HP:0007260	Type II lissencephaly
OMIM:615181	DAG1	1605	HP:0000545	Myopia
OMIM:615181	DAG1	1605	HP:0006829	Severe muscular hypotonia
OMIM:615181	POMGNT1	55624	HP:0000618	Blindness
OMIM:615181	POMGNT1	55624	HP:0000609	Optic nerve hypoplasia
OMIM:615181	POMGNT1	55624	HP:0001263	Global developmental delay
OMIM:615181	POMGNT1	55624	HP:0001321	Cerebellar hypoplasia
OMIM:615181	POMGNT1	55624	HP:0002126	Polymicrogyria
OMIM:615181	POMGNT1	55624	HP:0012110	Hypoplasia of the pons
OMIM:615181	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:615181	POMGNT1	55624	HP:0000238	Hydrocephalus
OMIM:615181	POMGNT1	55624	HP:0002350	Cerebellar cyst
OMIM:615181	POMGNT1	55624	HP:0000568	Microphthalmia
OMIM:615181	POMGNT1	55624	HP:0003560	Muscular dystrophy
OMIM:615181	POMGNT1	55624	HP:0007033	Cerebellar dysplasia
OMIM:615181	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	POMGNT1	55624	HP:0000541	Retinal detachment
OMIM:615181	POMGNT1	55624	HP:0000518	Cataract
OMIM:615181	POMGNT1	55624	HP:0007260	Type II lissencephaly
OMIM:615181	POMGNT1	55624	HP:0000545	Myopia
OMIM:615181	POMGNT1	55624	HP:0006829	Severe muscular hypotonia
OMIM:615181	FKTN	2218	HP:0000618	Blindness
OMIM:615181	FKTN	2218	HP:0000609	Optic nerve hypoplasia
OMIM:615181	FKTN	2218	HP:0001263	Global developmental delay
OMIM:615181	FKTN	2218	HP:0001321	Cerebellar hypoplasia
OMIM:615181	FKTN	2218	HP:0002126	Polymicrogyria
OMIM:615181	FKTN	2218	HP:0012110	Hypoplasia of the pons
OMIM:615181	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:615181	FKTN	2218	HP:0000238	Hydrocephalus
OMIM:615181	FKTN	2218	HP:0002350	Cerebellar cyst
OMIM:615181	FKTN	2218	HP:0000568	Microphthalmia
OMIM:615181	FKTN	2218	HP:0003560	Muscular dystrophy
OMIM:615181	FKTN	2218	HP:0007033	Cerebellar dysplasia
OMIM:615181	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	FKTN	2218	HP:0000541	Retinal detachment
OMIM:615181	FKTN	2218	HP:0000518	Cataract
OMIM:615181	FKTN	2218	HP:0007260	Type II lissencephaly
OMIM:615181	FKTN	2218	HP:0000545	Myopia
OMIM:615181	FKTN	2218	HP:0006829	Severe muscular hypotonia
OMIM:615181	FKRP	79147	HP:0000618	Blindness
OMIM:615181	FKRP	79147	HP:0000609	Optic nerve hypoplasia
OMIM:615181	FKRP	79147	HP:0001263	Global developmental delay
OMIM:615181	FKRP	79147	HP:0001321	Cerebellar hypoplasia
OMIM:615181	FKRP	79147	HP:0002126	Polymicrogyria
OMIM:615181	FKRP	79147	HP:0012110	Hypoplasia of the pons
OMIM:615181	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:615181	FKRP	79147	HP:0000238	Hydrocephalus
OMIM:615181	FKRP	79147	HP:0002350	Cerebellar cyst
OMIM:615181	FKRP	79147	HP:0000568	Microphthalmia
OMIM:615181	FKRP	79147	HP:0003560	Muscular dystrophy
OMIM:615181	FKRP	79147	HP:0007033	Cerebellar dysplasia
OMIM:615181	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	FKRP	79147	HP:0000541	Retinal detachment
OMIM:615181	FKRP	79147	HP:0000518	Cataract
OMIM:615181	FKRP	79147	HP:0007260	Type II lissencephaly
OMIM:615181	FKRP	79147	HP:0000545	Myopia
OMIM:615181	FKRP	79147	HP:0006829	Severe muscular hypotonia
OMIM:615181	ISPD	729920	HP:0000618	Blindness
OMIM:615181	ISPD	729920	HP:0000609	Optic nerve hypoplasia
OMIM:615181	ISPD	729920	HP:0001263	Global developmental delay
OMIM:615181	ISPD	729920	HP:0001321	Cerebellar hypoplasia
OMIM:615181	ISPD	729920	HP:0002126	Polymicrogyria
OMIM:615181	ISPD	729920	HP:0012110	Hypoplasia of the pons
OMIM:615181	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:615181	ISPD	729920	HP:0000238	Hydrocephalus
OMIM:615181	ISPD	729920	HP:0002350	Cerebellar cyst
OMIM:615181	ISPD	729920	HP:0000568	Microphthalmia
OMIM:615181	ISPD	729920	HP:0003560	Muscular dystrophy
OMIM:615181	ISPD	729920	HP:0007033	Cerebellar dysplasia
OMIM:615181	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	ISPD	729920	HP:0000541	Retinal detachment
OMIM:615181	ISPD	729920	HP:0000518	Cataract
OMIM:615181	ISPD	729920	HP:0007260	Type II lissencephaly
OMIM:615181	ISPD	729920	HP:0000545	Myopia
OMIM:615181	ISPD	729920	HP:0006829	Severe muscular hypotonia
OMIM:615181	B3GALNT2	148789	HP:0000618	Blindness
OMIM:615181	B3GALNT2	148789	HP:0000609	Optic nerve hypoplasia
OMIM:615181	B3GALNT2	148789	HP:0001263	Global developmental delay
OMIM:615181	B3GALNT2	148789	HP:0001321	Cerebellar hypoplasia
OMIM:615181	B3GALNT2	148789	HP:0002126	Polymicrogyria
OMIM:615181	B3GALNT2	148789	HP:0012110	Hypoplasia of the pons
OMIM:615181	B3GALNT2	148789	HP:0000007	Autosomal recessive inheritance
OMIM:615181	B3GALNT2	148789	HP:0000238	Hydrocephalus
OMIM:615181	B3GALNT2	148789	HP:0002350	Cerebellar cyst
OMIM:615181	B3GALNT2	148789	HP:0000568	Microphthalmia
OMIM:615181	B3GALNT2	148789	HP:0003560	Muscular dystrophy
OMIM:615181	B3GALNT2	148789	HP:0007033	Cerebellar dysplasia
OMIM:615181	B3GALNT2	148789	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	B3GALNT2	148789	HP:0000541	Retinal detachment
OMIM:615181	B3GALNT2	148789	HP:0000518	Cataract
OMIM:615181	B3GALNT2	148789	HP:0007260	Type II lissencephaly
OMIM:615181	B3GALNT2	148789	HP:0000545	Myopia
OMIM:615181	B3GALNT2	148789	HP:0006829	Severe muscular hypotonia
OMIM:615181	POMT1	10585	HP:0000618	Blindness
OMIM:615181	POMT1	10585	HP:0000609	Optic nerve hypoplasia
OMIM:615181	POMT1	10585	HP:0001263	Global developmental delay
OMIM:615181	POMT1	10585	HP:0001321	Cerebellar hypoplasia
OMIM:615181	POMT1	10585	HP:0002126	Polymicrogyria
OMIM:615181	POMT1	10585	HP:0012110	Hypoplasia of the pons
OMIM:615181	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:615181	POMT1	10585	HP:0000238	Hydrocephalus
OMIM:615181	POMT1	10585	HP:0002350	Cerebellar cyst
OMIM:615181	POMT1	10585	HP:0000568	Microphthalmia
OMIM:615181	POMT1	10585	HP:0003560	Muscular dystrophy
OMIM:615181	POMT1	10585	HP:0007033	Cerebellar dysplasia
OMIM:615181	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	POMT1	10585	HP:0000541	Retinal detachment
OMIM:615181	POMT1	10585	HP:0000518	Cataract
OMIM:615181	POMT1	10585	HP:0007260	Type II lissencephaly
OMIM:615181	POMT1	10585	HP:0000545	Myopia
OMIM:615181	POMT1	10585	HP:0006829	Severe muscular hypotonia
OMIM:615181	TMEM5	10329	HP:0000618	Blindness
OMIM:615181	TMEM5	10329	HP:0000609	Optic nerve hypoplasia
OMIM:615181	TMEM5	10329	HP:0001263	Global developmental delay
OMIM:615181	TMEM5	10329	HP:0001321	Cerebellar hypoplasia
OMIM:615181	TMEM5	10329	HP:0002126	Polymicrogyria
OMIM:615181	TMEM5	10329	HP:0012110	Hypoplasia of the pons
OMIM:615181	TMEM5	10329	HP:0000007	Autosomal recessive inheritance
OMIM:615181	TMEM5	10329	HP:0000238	Hydrocephalus
OMIM:615181	TMEM5	10329	HP:0002350	Cerebellar cyst
OMIM:615181	TMEM5	10329	HP:0000568	Microphthalmia
OMIM:615181	TMEM5	10329	HP:0003560	Muscular dystrophy
OMIM:615181	TMEM5	10329	HP:0007033	Cerebellar dysplasia
OMIM:615181	TMEM5	10329	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	TMEM5	10329	HP:0000541	Retinal detachment
OMIM:615181	TMEM5	10329	HP:0000518	Cataract
OMIM:615181	TMEM5	10329	HP:0007260	Type II lissencephaly
OMIM:615181	TMEM5	10329	HP:0000545	Myopia
OMIM:615181	TMEM5	10329	HP:0006829	Severe muscular hypotonia
OMIM:615181	POMGNT2	84892	HP:0000618	Blindness
OMIM:615181	POMGNT2	84892	HP:0000609	Optic nerve hypoplasia
OMIM:615181	POMGNT2	84892	HP:0001263	Global developmental delay
OMIM:615181	POMGNT2	84892	HP:0001321	Cerebellar hypoplasia
OMIM:615181	POMGNT2	84892	HP:0002126	Polymicrogyria
OMIM:615181	POMGNT2	84892	HP:0012110	Hypoplasia of the pons
OMIM:615181	POMGNT2	84892	HP:0000007	Autosomal recessive inheritance
OMIM:615181	POMGNT2	84892	HP:0000238	Hydrocephalus
OMIM:615181	POMGNT2	84892	HP:0002350	Cerebellar cyst
OMIM:615181	POMGNT2	84892	HP:0000568	Microphthalmia
OMIM:615181	POMGNT2	84892	HP:0003560	Muscular dystrophy
OMIM:615181	POMGNT2	84892	HP:0007033	Cerebellar dysplasia
OMIM:615181	POMGNT2	84892	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	POMGNT2	84892	HP:0000541	Retinal detachment
OMIM:615181	POMGNT2	84892	HP:0000518	Cataract
OMIM:615181	POMGNT2	84892	HP:0007260	Type II lissencephaly
OMIM:615181	POMGNT2	84892	HP:0000545	Myopia
OMIM:615181	POMGNT2	84892	HP:0006829	Severe muscular hypotonia
OMIM:615181	LARGE	9215	HP:0000618	Blindness
OMIM:615181	LARGE	9215	HP:0000609	Optic nerve hypoplasia
OMIM:615181	LARGE	9215	HP:0001263	Global developmental delay
OMIM:615181	LARGE	9215	HP:0001321	Cerebellar hypoplasia
OMIM:615181	LARGE	9215	HP:0002126	Polymicrogyria
OMIM:615181	LARGE	9215	HP:0012110	Hypoplasia of the pons
OMIM:615181	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:615181	LARGE	9215	HP:0000238	Hydrocephalus
OMIM:615181	LARGE	9215	HP:0002350	Cerebellar cyst
OMIM:615181	LARGE	9215	HP:0000568	Microphthalmia
OMIM:615181	LARGE	9215	HP:0003560	Muscular dystrophy
OMIM:615181	LARGE	9215	HP:0007033	Cerebellar dysplasia
OMIM:615181	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:615181	LARGE	9215	HP:0000541	Retinal detachment
OMIM:615181	LARGE	9215	HP:0000518	Cataract
OMIM:615181	LARGE	9215	HP:0007260	Type II lissencephaly
OMIM:615181	LARGE	9215	HP:0000545	Myopia
OMIM:615181	LARGE	9215	HP:0006829	Severe muscular hypotonia
OMIM:228300	LHB	3972	HP:0000054	Micropenis
OMIM:228300	LHB	3972	HP:0000869	Secondary amenorrhea
OMIM:228300	LHB	3972	HP:0000007	Autosomal recessive inheritance
OMIM:228300	LHB	3972	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:228300	LHB	3972	HP:0002215	Sparse axillary hair
ORPHANET:2671	PSAT1	29968	HP:0000316	Hypertelorism
ORPHANET:2671	PSAT1	29968	HP:0000252	Microcephaly
ORPHANET:2671	PSAT1	29968	HP:0000269	Prominent occiput
ORPHANET:2671	PSAT1	29968	HP:0002813	Abnormality of limb bone morphology
ORPHANET:2671	PSAT1	29968	HP:0100679	Lack of skin elasticity
ORPHANET:2671	PSAT1	29968	HP:0001305	Dandy-Walker malformation
ORPHANET:2671	PSAT1	29968	HP:0000062	Ambiguous genitalia
ORPHANET:2671	PSAT1	29968	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2671	PSAT1	29968	HP:0000520	Proptosis
ORPHANET:2671	PSAT1	29968	HP:0000175	Cleft palate
ORPHANET:2671	PSAT1	29968	HP:0000204	Cleft upper lip
ORPHANET:2671	PSAT1	29968	HP:0002650	Scoliosis
ORPHANET:2671	PSAT1	29968	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:2671	PSAT1	29968	HP:0001557	Prenatal movement abnormality
ORPHANET:2671	PSAT1	29968	HP:0001176	Large hands
ORPHANET:2671	PSAT1	29968	HP:0000400	Macrotia
ORPHANET:2671	PSAT1	29968	HP:0008064	Ichthyosis
ORPHANET:2671	PSAT1	29968	HP:0001561	Polyhydramnios
ORPHANET:2671	PSAT1	29968	HP:0002414	Spina bifida
ORPHANET:2671	PSAT1	29968	HP:0002514	Cerebral calcification
ORPHANET:2671	PSAT1	29968	HP:0000340	Sloping forehead
ORPHANET:2671	PSAT1	29968	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2671	PSAT1	29968	HP:0002983	Micromelia
ORPHANET:2671	PSAT1	29968	HP:0004349	Reduced bone mineral density
ORPHANET:2671	PSAT1	29968	HP:0000347	Micrognathia
ORPHANET:2671	PSAT1	29968	HP:0000518	Cataract
ORPHANET:2671	PSAT1	29968	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:2671	PSAT1	29968	HP:0000036	Abnormality of the penis
ORPHANET:2671	PSAT1	29968	HP:0002269	Abnormality of neuronal migration
ORPHANET:2671	PSAT1	29968	HP:0000232	Everted lower lip vermilion
ORPHANET:2671	PSAT1	29968	HP:0000457	Depressed nasal ridge
ORPHANET:2671	PSAT1	29968	HP:0001511	Intrauterine growth retardation
ORPHANET:2671	PSAT1	29968	HP:0000179	Thick lower lip vermilion
ORPHANET:2671	PSAT1	29968	HP:0003202	Skeletal muscle atrophy
ORPHANET:2671	PHGDH	26227	HP:0000316	Hypertelorism
ORPHANET:2671	PHGDH	26227	HP:0000252	Microcephaly
ORPHANET:2671	PHGDH	26227	HP:0000269	Prominent occiput
ORPHANET:2671	PHGDH	26227	HP:0002813	Abnormality of limb bone morphology
ORPHANET:2671	PHGDH	26227	HP:0100679	Lack of skin elasticity
ORPHANET:2671	PHGDH	26227	HP:0001305	Dandy-Walker malformation
ORPHANET:2671	PHGDH	26227	HP:0000062	Ambiguous genitalia
ORPHANET:2671	PHGDH	26227	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:2671	PHGDH	26227	HP:0000520	Proptosis
ORPHANET:2671	PHGDH	26227	HP:0000175	Cleft palate
ORPHANET:2671	PHGDH	26227	HP:0000204	Cleft upper lip
ORPHANET:2671	PHGDH	26227	HP:0002650	Scoliosis
ORPHANET:2671	PHGDH	26227	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:2671	PHGDH	26227	HP:0001557	Prenatal movement abnormality
ORPHANET:2671	PHGDH	26227	HP:0001176	Large hands
ORPHANET:2671	PHGDH	26227	HP:0000400	Macrotia
ORPHANET:2671	PHGDH	26227	HP:0008064	Ichthyosis
ORPHANET:2671	PHGDH	26227	HP:0001561	Polyhydramnios
ORPHANET:2671	PHGDH	26227	HP:0002414	Spina bifida
ORPHANET:2671	PHGDH	26227	HP:0002514	Cerebral calcification
ORPHANET:2671	PHGDH	26227	HP:0000340	Sloping forehead
ORPHANET:2671	PHGDH	26227	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHANET:2671	PHGDH	26227	HP:0002983	Micromelia
ORPHANET:2671	PHGDH	26227	HP:0004349	Reduced bone mineral density
ORPHANET:2671	PHGDH	26227	HP:0000347	Micrognathia
ORPHANET:2671	PHGDH	26227	HP:0000518	Cataract
ORPHANET:2671	PHGDH	26227	HP:0002804	Arthrogryposis multiplex congenita
ORPHANET:2671	PHGDH	26227	HP:0000036	Abnormality of the penis
ORPHANET:2671	PHGDH	26227	HP:0002269	Abnormality of neuronal migration
ORPHANET:2671	PHGDH	26227	HP:0000232	Everted lower lip vermilion
ORPHANET:2671	PHGDH	26227	HP:0000457	Depressed nasal ridge
ORPHANET:2671	PHGDH	26227	HP:0001511	Intrauterine growth retardation
ORPHANET:2671	PHGDH	26227	HP:0000179	Thick lower lip vermilion
ORPHANET:2671	PHGDH	26227	HP:0003202	Skeletal muscle atrophy
OMIM:613144	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:613144	GUCY2D	3000	HP:0000533	Chorioretinal atrophy
OMIM:613144	GUCY2D	3000	HP:0011510	Drusen
OMIM:613144	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:613144	PRPH2	5961	HP:0000533	Chorioretinal atrophy
OMIM:613144	PRPH2	5961	HP:0011510	Drusen
ORPHANET:1522	GJA1	2697	HP:0000316	Hypertelorism
ORPHANET:1522	GJA1	2697	HP:0004493	Craniofacial hyperostosis
ORPHANET:1522	GJA1	2697	HP:0000944	Abnormality of the metaphyses
ORPHANET:1522	GJA1	2697	HP:0005280	Depressed nasal bridge
ORPHANET:1522	GJA1	2697	HP:0000405	Conductive hearing impairment
ORPHANET:1522	GJA1	2697	HP:0000407	Sensorineural hearing impairment
ORPHANET:1522	GJA1	2697	HP:0011001	Increased bone mineral density
ORPHANET:1522	GJA1	2697	HP:0000431	Wide nasal bridge
ORPHANET:1522	GJA1	2697	HP:0000505	Visual impairment
ORPHANET:1522	GJA1	2697	HP:0000506	Telecanthus
ORPHANET:1522	GJA1	2697	HP:0010628	Facial palsy
ORPHANET:1522	GJA1	2697	HP:0002652	Skeletal dysplasia
ORPHANET:1522	ANKH	56172	HP:0000316	Hypertelorism
ORPHANET:1522	ANKH	56172	HP:0004493	Craniofacial hyperostosis
ORPHANET:1522	ANKH	56172	HP:0000944	Abnormality of the metaphyses
ORPHANET:1522	ANKH	56172	HP:0005280	Depressed nasal bridge
ORPHANET:1522	ANKH	56172	HP:0000405	Conductive hearing impairment
ORPHANET:1522	ANKH	56172	HP:0000407	Sensorineural hearing impairment
ORPHANET:1522	ANKH	56172	HP:0011001	Increased bone mineral density
ORPHANET:1522	ANKH	56172	HP:0000431	Wide nasal bridge
ORPHANET:1522	ANKH	56172	HP:0000505	Visual impairment
ORPHANET:1522	ANKH	56172	HP:0000506	Telecanthus
ORPHANET:1522	ANKH	56172	HP:0010628	Facial palsy
ORPHANET:1522	ANKH	56172	HP:0002652	Skeletal dysplasia
ORPHANET:83465	HLA-DRB1	3123	HP:0000738	Hallucinations
ORPHANET:83465	HLA-DRB1	3123	HP:0002360	Sleep disturbance
ORPHANET:83465	HLA-DRB1	3123	HP:0004372	Reduced consciousness/confusion
ORPHANET:83465	HCRT	3060	HP:0000738	Hallucinations
ORPHANET:83465	HCRT	3060	HP:0002360	Sleep disturbance
ORPHANET:83465	HCRT	3060	HP:0004372	Reduced consciousness/confusion
ORPHANET:83465	ZNF365	22891	HP:0000738	Hallucinations
ORPHANET:83465	ZNF365	22891	HP:0002360	Sleep disturbance
ORPHANET:83465	ZNF365	22891	HP:0004372	Reduced consciousness/confusion
ORPHANET:83465	HLA-DQB1	3119	HP:0000738	Hallucinations
ORPHANET:83465	HLA-DQB1	3119	HP:0002360	Sleep disturbance
ORPHANET:83465	HLA-DQB1	3119	HP:0004372	Reduced consciousness/confusion
OMIM:138000	GLMN	11146	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:138000	GLMN	11146	HP:0000951	Abnormality of the skin
OMIM:138000	GLMN	11146	HP:0000006	Autosomal dominant inheritance
OMIM:609129	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:609129	DIAPH1	1729	HP:0001963	Abnormal speech discrimination
OMIM:609129	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:609129	DIAPH1	1729	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	DIAPH1	1729	HP:0008529	Absence of acoustic reflex
OMIM:609129	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:609129	CEACAM16	388551	HP:0001963	Abnormal speech discrimination
OMIM:609129	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:609129	CEACAM16	388551	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	CEACAM16	388551	HP:0008529	Absence of acoustic reflex
OMIM:609129	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:609129	SLC17A8	246213	HP:0001963	Abnormal speech discrimination
OMIM:609129	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:609129	SLC17A8	246213	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	SLC17A8	246213	HP:0008529	Absence of acoustic reflex
OMIM:609129	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:609129	TJP2	9414	HP:0001963	Abnormal speech discrimination
OMIM:609129	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:609129	TJP2	9414	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	TJP2	9414	HP:0008529	Absence of acoustic reflex
OMIM:609129	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:609129	ACTG1	71	HP:0001963	Abnormal speech discrimination
OMIM:609129	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:609129	ACTG1	71	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	ACTG1	71	HP:0008529	Absence of acoustic reflex
OMIM:609129	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:609129	CCDC50	152137	HP:0001963	Abnormal speech discrimination
OMIM:609129	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:609129	CCDC50	152137	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	CCDC50	152137	HP:0008529	Absence of acoustic reflex
OMIM:609129	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:609129	MIR96	407053	HP:0001963	Abnormal speech discrimination
OMIM:609129	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:609129	MIR96	407053	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	MIR96	407053	HP:0008529	Absence of acoustic reflex
OMIM:609129	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:609129	GJB2	2706	HP:0001963	Abnormal speech discrimination
OMIM:609129	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:609129	GJB2	2706	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	GJB2	2706	HP:0008529	Absence of acoustic reflex
OMIM:609129	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:609129	POU4F3	5459	HP:0001963	Abnormal speech discrimination
OMIM:609129	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:609129	POU4F3	5459	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	POU4F3	5459	HP:0008529	Absence of acoustic reflex
OMIM:609129	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:609129	GJB3	2707	HP:0001963	Abnormal speech discrimination
OMIM:609129	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:609129	GJB3	2707	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	GJB3	2707	HP:0008529	Absence of acoustic reflex
OMIM:609129	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:609129	MYH9	4627	HP:0001963	Abnormal speech discrimination
OMIM:609129	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:609129	MYH9	4627	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	MYH9	4627	HP:0008529	Absence of acoustic reflex
OMIM:609129	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:609129	CRYM	1428	HP:0001963	Abnormal speech discrimination
OMIM:609129	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:609129	CRYM	1428	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	CRYM	1428	HP:0008529	Absence of acoustic reflex
OMIM:609129	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:609129	COL11A2	1302	HP:0001963	Abnormal speech discrimination
OMIM:609129	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:609129	COL11A2	1302	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	COL11A2	1302	HP:0008529	Absence of acoustic reflex
OMIM:609129	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:609129	EYA4	2070	HP:0001963	Abnormal speech discrimination
OMIM:609129	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:609129	EYA4	2070	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	EYA4	2070	HP:0008529	Absence of acoustic reflex
OMIM:609129	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:609129	DFNA5	1687	HP:0001963	Abnormal speech discrimination
OMIM:609129	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:609129	DFNA5	1687	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	DFNA5	1687	HP:0008529	Absence of acoustic reflex
OMIM:609129	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:609129	DIAPH3	81624	HP:0001963	Abnormal speech discrimination
OMIM:609129	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:609129	DIAPH3	81624	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	DIAPH3	81624	HP:0008529	Absence of acoustic reflex
OMIM:609129	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:609129	TMC1	117531	HP:0001963	Abnormal speech discrimination
OMIM:609129	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:609129	TMC1	117531	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	TMC1	117531	HP:0008529	Absence of acoustic reflex
OMIM:609129	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:609129	COCH	1690	HP:0001963	Abnormal speech discrimination
OMIM:609129	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:609129	COCH	1690	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	COCH	1690	HP:0008529	Absence of acoustic reflex
OMIM:609129	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:609129	OSBPL2	9885	HP:0001963	Abnormal speech discrimination
OMIM:609129	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:609129	OSBPL2	9885	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	OSBPL2	9885	HP:0008529	Absence of acoustic reflex
OMIM:609129	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:609129	SIX1	6495	HP:0001963	Abnormal speech discrimination
OMIM:609129	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:609129	SIX1	6495	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	SIX1	6495	HP:0008529	Absence of acoustic reflex
OMIM:609129	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:609129	TECTA	7007	HP:0001963	Abnormal speech discrimination
OMIM:609129	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:609129	TECTA	7007	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	TECTA	7007	HP:0008529	Absence of acoustic reflex
OMIM:609129	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:609129	MYO1A	4640	HP:0001963	Abnormal speech discrimination
OMIM:609129	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:609129	MYO1A	4640	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	MYO1A	4640	HP:0008529	Absence of acoustic reflex
OMIM:609129	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:609129	MYO1C	4641	HP:0001963	Abnormal speech discrimination
OMIM:609129	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:609129	MYO1C	4641	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	MYO1C	4641	HP:0008529	Absence of acoustic reflex
OMIM:609129	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:609129	MYO6	4646	HP:0001963	Abnormal speech discrimination
OMIM:609129	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:609129	MYO6	4646	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	MYO6	4646	HP:0008529	Absence of acoustic reflex
OMIM:609129	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:609129	MYO7A	4647	HP:0001963	Abnormal speech discrimination
OMIM:609129	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:609129	MYO7A	4647	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	MYO7A	4647	HP:0008529	Absence of acoustic reflex
OMIM:609129	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:609129	GRHL2	79977	HP:0001963	Abnormal speech discrimination
OMIM:609129	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:609129	GRHL2	79977	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	GRHL2	79977	HP:0008529	Absence of acoustic reflex
OMIM:609129	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:609129	DIABLO	56616	HP:0001963	Abnormal speech discrimination
OMIM:609129	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:609129	DIABLO	56616	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	DIABLO	56616	HP:0008529	Absence of acoustic reflex
OMIM:609129	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:609129	MYH14	79784	HP:0001963	Abnormal speech discrimination
OMIM:609129	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:609129	MYH14	79784	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	MYH14	79784	HP:0008529	Absence of acoustic reflex
OMIM:609129	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:609129	P2RX2	22953	HP:0001963	Abnormal speech discrimination
OMIM:609129	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:609129	P2RX2	22953	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	P2RX2	22953	HP:0008529	Absence of acoustic reflex
OMIM:609129	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:609129	WFS1	7466	HP:0001963	Abnormal speech discrimination
OMIM:609129	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:609129	WFS1	7466	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	WFS1	7466	HP:0008529	Absence of acoustic reflex
OMIM:609129	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:609129	TNC	3371	HP:0001963	Abnormal speech discrimination
OMIM:609129	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:609129	TNC	3371	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	TNC	3371	HP:0008529	Absence of acoustic reflex
OMIM:609129	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:609129	KCNQ4	9132	HP:0001963	Abnormal speech discrimination
OMIM:609129	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:609129	KCNQ4	9132	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	KCNQ4	9132	HP:0008529	Absence of acoustic reflex
OMIM:609129	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:609129	HOMER2	9455	HP:0001963	Abnormal speech discrimination
OMIM:609129	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:609129	HOMER2	9455	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	HOMER2	9455	HP:0008529	Absence of acoustic reflex
OMIM:609129	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:609129	GJB6	10804	HP:0001963	Abnormal speech discrimination
OMIM:609129	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:609129	GJB6	10804	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	GJB6	10804	HP:0008529	Absence of acoustic reflex
OMIM:609129	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:609129	TBC1D24	57465	HP:0001963	Abnormal speech discrimination
OMIM:609129	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:609129	TBC1D24	57465	HP:0006958	Abnormal auditory evoked potentials
OMIM:609129	TBC1D24	57465	HP:0008529	Absence of acoustic reflex
ORPHANET:1775	NOP10	55505	HP:0000534	Abnormality of the eyebrow
ORPHANET:1775	NOP10	55505	HP:0000670	Carious teeth
ORPHANET:1775	NOP10	55505	HP:0001231	Abnormality of the fingernails
ORPHANET:1775	NOP10	55505	HP:0001394	Cirrhosis
ORPHANET:1775	NOP10	55505	HP:0001928	Abnormality of coagulation
ORPHANET:1775	NOP10	55505	HP:0100543	Cognitive impairment
ORPHANET:1775	NOP10	55505	HP:0001903	Anemia
ORPHANET:1775	NOP10	55505	HP:0005599	Hypopigmentation of hair
ORPHANET:1775	NOP10	55505	HP:0005528	Bone marrow hypocellularity
ORPHANET:1775	NOP10	55505	HP:0000982	Palmoplantar keratoderma
ORPHANET:1775	NOP10	55505	HP:0000035	Abnormality of the testis
ORPHANET:1775	NOP10	55505	HP:0002024	Malabsorption
ORPHANET:1775	NOP10	55505	HP:0001034	Hypermelanotic macule
ORPHANET:1775	NOP10	55505	HP:0002894	Neoplasm of the pancreas
ORPHANET:1775	NOP10	55505	HP:0000365	Hearing impairment
ORPHANET:1775	NOP10	55505	HP:0005374	Cellular immunodeficiency
ORPHANET:1775	NOP10	55505	HP:0001399	Hepatic failure
ORPHANET:1775	NOP10	55505	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1775	NOP10	55505	HP:0004322	Short stature
ORPHANET:1775	NOP10	55505	HP:0002665	Lymphoma
ORPHANET:1775	NOP10	55505	HP:0002757	Recurrent fractures
ORPHANET:1775	NOP10	55505	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1775	NOP10	55505	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1775	NOP10	55505	HP:0001744	Splenomegaly
ORPHANET:1775	NOP10	55505	HP:0001511	Intrauterine growth retardation
ORPHANET:1775	NOP10	55505	HP:0002575	Tracheoesophageal fistula
ORPHANET:1775	NOP10	55505	HP:0001053	Hypopigmented skin patches
ORPHANET:1775	NOP10	55505	HP:0002514	Cerebral calcification
ORPHANET:1775	NOP10	55505	HP:0001798	Anonychia
ORPHANET:1775	NOP10	55505	HP:0002240	Hepatomegaly
ORPHANET:1775	NOP10	55505	HP:0002650	Scoliosis
ORPHANET:1775	NOP10	55505	HP:0000518	Cataract
ORPHANET:1775	NOP10	55505	HP:0002205	Recurrent respiratory infections
ORPHANET:1775	NOP10	55505	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1775	NOP10	55505	HP:0001873	Thrombocytopenia
ORPHANET:1775	NOP10	55505	HP:0200042	Skin ulcer
ORPHANET:1775	NOP10	55505	HP:0000975	Hyperhidrosis
ORPHANET:1775	NOP10	55505	HP:0001596	Alopecia
ORPHANET:1775	NOP10	55505	HP:0004349	Reduced bone mineral density
ORPHANET:1775	NOP10	55505	HP:0100585	Telangiectasia of the skin
ORPHANET:1775	NOP10	55505	HP:0000600	Abnormality of the pharynx
ORPHANET:1775	NOP10	55505	HP:0000819	Diabetes mellitus
ORPHANET:1775	NOP10	55505	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1775	NOP10	55505	HP:0001874	Abnormality of neutrophils
ORPHANET:1775	NOP10	55505	HP:0002216	Premature graying of hair
ORPHANET:1775	PARN	5073	HP:0000534	Abnormality of the eyebrow
ORPHANET:1775	PARN	5073	HP:0000670	Carious teeth
ORPHANET:1775	PARN	5073	HP:0001231	Abnormality of the fingernails
ORPHANET:1775	PARN	5073	HP:0001394	Cirrhosis
ORPHANET:1775	PARN	5073	HP:0001928	Abnormality of coagulation
ORPHANET:1775	PARN	5073	HP:0100543	Cognitive impairment
ORPHANET:1775	PARN	5073	HP:0001903	Anemia
ORPHANET:1775	PARN	5073	HP:0005599	Hypopigmentation of hair
ORPHANET:1775	PARN	5073	HP:0005528	Bone marrow hypocellularity
ORPHANET:1775	PARN	5073	HP:0000982	Palmoplantar keratoderma
ORPHANET:1775	PARN	5073	HP:0000035	Abnormality of the testis
ORPHANET:1775	PARN	5073	HP:0002024	Malabsorption
ORPHANET:1775	PARN	5073	HP:0001034	Hypermelanotic macule
ORPHANET:1775	PARN	5073	HP:0002894	Neoplasm of the pancreas
ORPHANET:1775	PARN	5073	HP:0000365	Hearing impairment
ORPHANET:1775	PARN	5073	HP:0005374	Cellular immunodeficiency
ORPHANET:1775	PARN	5073	HP:0001399	Hepatic failure
ORPHANET:1775	PARN	5073	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1775	PARN	5073	HP:0004322	Short stature
ORPHANET:1775	PARN	5073	HP:0002665	Lymphoma
ORPHANET:1775	PARN	5073	HP:0002757	Recurrent fractures
ORPHANET:1775	PARN	5073	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1775	PARN	5073	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1775	PARN	5073	HP:0001744	Splenomegaly
ORPHANET:1775	PARN	5073	HP:0001511	Intrauterine growth retardation
ORPHANET:1775	PARN	5073	HP:0002575	Tracheoesophageal fistula
ORPHANET:1775	PARN	5073	HP:0001053	Hypopigmented skin patches
ORPHANET:1775	PARN	5073	HP:0002514	Cerebral calcification
ORPHANET:1775	PARN	5073	HP:0001798	Anonychia
ORPHANET:1775	PARN	5073	HP:0002240	Hepatomegaly
ORPHANET:1775	PARN	5073	HP:0002650	Scoliosis
ORPHANET:1775	PARN	5073	HP:0000518	Cataract
ORPHANET:1775	PARN	5073	HP:0002205	Recurrent respiratory infections
ORPHANET:1775	PARN	5073	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1775	PARN	5073	HP:0001873	Thrombocytopenia
ORPHANET:1775	PARN	5073	HP:0200042	Skin ulcer
ORPHANET:1775	PARN	5073	HP:0000975	Hyperhidrosis
ORPHANET:1775	PARN	5073	HP:0001596	Alopecia
ORPHANET:1775	PARN	5073	HP:0004349	Reduced bone mineral density
ORPHANET:1775	PARN	5073	HP:0100585	Telangiectasia of the skin
ORPHANET:1775	PARN	5073	HP:0000600	Abnormality of the pharynx
ORPHANET:1775	PARN	5073	HP:0000819	Diabetes mellitus
ORPHANET:1775	PARN	5073	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1775	PARN	5073	HP:0001874	Abnormality of neutrophils
ORPHANET:1775	PARN	5073	HP:0002216	Premature graying of hair
ORPHANET:1775	NHP2	55651	HP:0000534	Abnormality of the eyebrow
ORPHANET:1775	NHP2	55651	HP:0000670	Carious teeth
ORPHANET:1775	NHP2	55651	HP:0001231	Abnormality of the fingernails
ORPHANET:1775	NHP2	55651	HP:0001394	Cirrhosis
ORPHANET:1775	NHP2	55651	HP:0001928	Abnormality of coagulation
ORPHANET:1775	NHP2	55651	HP:0100543	Cognitive impairment
ORPHANET:1775	NHP2	55651	HP:0001903	Anemia
ORPHANET:1775	NHP2	55651	HP:0005599	Hypopigmentation of hair
ORPHANET:1775	NHP2	55651	HP:0005528	Bone marrow hypocellularity
ORPHANET:1775	NHP2	55651	HP:0000982	Palmoplantar keratoderma
ORPHANET:1775	NHP2	55651	HP:0000035	Abnormality of the testis
ORPHANET:1775	NHP2	55651	HP:0002024	Malabsorption
ORPHANET:1775	NHP2	55651	HP:0001034	Hypermelanotic macule
ORPHANET:1775	NHP2	55651	HP:0002894	Neoplasm of the pancreas
ORPHANET:1775	NHP2	55651	HP:0000365	Hearing impairment
ORPHANET:1775	NHP2	55651	HP:0005374	Cellular immunodeficiency
ORPHANET:1775	NHP2	55651	HP:0001399	Hepatic failure
ORPHANET:1775	NHP2	55651	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1775	NHP2	55651	HP:0004322	Short stature
ORPHANET:1775	NHP2	55651	HP:0002665	Lymphoma
ORPHANET:1775	NHP2	55651	HP:0002757	Recurrent fractures
ORPHANET:1775	NHP2	55651	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1775	NHP2	55651	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1775	NHP2	55651	HP:0001744	Splenomegaly
ORPHANET:1775	NHP2	55651	HP:0001511	Intrauterine growth retardation
ORPHANET:1775	NHP2	55651	HP:0002575	Tracheoesophageal fistula
ORPHANET:1775	NHP2	55651	HP:0001053	Hypopigmented skin patches
ORPHANET:1775	NHP2	55651	HP:0002514	Cerebral calcification
ORPHANET:1775	NHP2	55651	HP:0001798	Anonychia
ORPHANET:1775	NHP2	55651	HP:0002240	Hepatomegaly
ORPHANET:1775	NHP2	55651	HP:0002650	Scoliosis
ORPHANET:1775	NHP2	55651	HP:0000518	Cataract
ORPHANET:1775	NHP2	55651	HP:0002205	Recurrent respiratory infections
ORPHANET:1775	NHP2	55651	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1775	NHP2	55651	HP:0001873	Thrombocytopenia
ORPHANET:1775	NHP2	55651	HP:0200042	Skin ulcer
ORPHANET:1775	NHP2	55651	HP:0000975	Hyperhidrosis
ORPHANET:1775	NHP2	55651	HP:0001596	Alopecia
ORPHANET:1775	NHP2	55651	HP:0004349	Reduced bone mineral density
ORPHANET:1775	NHP2	55651	HP:0100585	Telangiectasia of the skin
ORPHANET:1775	NHP2	55651	HP:0000600	Abnormality of the pharynx
ORPHANET:1775	NHP2	55651	HP:0000819	Diabetes mellitus
ORPHANET:1775	NHP2	55651	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1775	NHP2	55651	HP:0001874	Abnormality of neutrophils
ORPHANET:1775	NHP2	55651	HP:0002216	Premature graying of hair
ORPHANET:1775	USB1	79650	HP:0000534	Abnormality of the eyebrow
ORPHANET:1775	USB1	79650	HP:0000670	Carious teeth
ORPHANET:1775	USB1	79650	HP:0001231	Abnormality of the fingernails
ORPHANET:1775	USB1	79650	HP:0001394	Cirrhosis
ORPHANET:1775	USB1	79650	HP:0001928	Abnormality of coagulation
ORPHANET:1775	USB1	79650	HP:0100543	Cognitive impairment
ORPHANET:1775	USB1	79650	HP:0001903	Anemia
ORPHANET:1775	USB1	79650	HP:0005599	Hypopigmentation of hair
ORPHANET:1775	USB1	79650	HP:0005528	Bone marrow hypocellularity
ORPHANET:1775	USB1	79650	HP:0000982	Palmoplantar keratoderma
ORPHANET:1775	USB1	79650	HP:0000035	Abnormality of the testis
ORPHANET:1775	USB1	79650	HP:0002024	Malabsorption
ORPHANET:1775	USB1	79650	HP:0001034	Hypermelanotic macule
ORPHANET:1775	USB1	79650	HP:0002894	Neoplasm of the pancreas
ORPHANET:1775	USB1	79650	HP:0000365	Hearing impairment
ORPHANET:1775	USB1	79650	HP:0005374	Cellular immunodeficiency
ORPHANET:1775	USB1	79650	HP:0001399	Hepatic failure
ORPHANET:1775	USB1	79650	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1775	USB1	79650	HP:0004322	Short stature
ORPHANET:1775	USB1	79650	HP:0002665	Lymphoma
ORPHANET:1775	USB1	79650	HP:0002757	Recurrent fractures
ORPHANET:1775	USB1	79650	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1775	USB1	79650	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1775	USB1	79650	HP:0001744	Splenomegaly
ORPHANET:1775	USB1	79650	HP:0001511	Intrauterine growth retardation
ORPHANET:1775	USB1	79650	HP:0002575	Tracheoesophageal fistula
ORPHANET:1775	USB1	79650	HP:0001053	Hypopigmented skin patches
ORPHANET:1775	USB1	79650	HP:0002514	Cerebral calcification
ORPHANET:1775	USB1	79650	HP:0001798	Anonychia
ORPHANET:1775	USB1	79650	HP:0002240	Hepatomegaly
ORPHANET:1775	USB1	79650	HP:0002650	Scoliosis
ORPHANET:1775	USB1	79650	HP:0000518	Cataract
ORPHANET:1775	USB1	79650	HP:0002205	Recurrent respiratory infections
ORPHANET:1775	USB1	79650	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1775	USB1	79650	HP:0001873	Thrombocytopenia
ORPHANET:1775	USB1	79650	HP:0200042	Skin ulcer
ORPHANET:1775	USB1	79650	HP:0000975	Hyperhidrosis
ORPHANET:1775	USB1	79650	HP:0001596	Alopecia
ORPHANET:1775	USB1	79650	HP:0004349	Reduced bone mineral density
ORPHANET:1775	USB1	79650	HP:0100585	Telangiectasia of the skin
ORPHANET:1775	USB1	79650	HP:0000600	Abnormality of the pharynx
ORPHANET:1775	USB1	79650	HP:0000819	Diabetes mellitus
ORPHANET:1775	USB1	79650	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1775	USB1	79650	HP:0001874	Abnormality of neutrophils
ORPHANET:1775	USB1	79650	HP:0002216	Premature graying of hair
ORPHANET:1775	TERC	7012	HP:0000534	Abnormality of the eyebrow
ORPHANET:1775	TERC	7012	HP:0000670	Carious teeth
ORPHANET:1775	TERC	7012	HP:0001231	Abnormality of the fingernails
ORPHANET:1775	TERC	7012	HP:0001394	Cirrhosis
ORPHANET:1775	TERC	7012	HP:0001928	Abnormality of coagulation
ORPHANET:1775	TERC	7012	HP:0100543	Cognitive impairment
ORPHANET:1775	TERC	7012	HP:0001903	Anemia
ORPHANET:1775	TERC	7012	HP:0005599	Hypopigmentation of hair
ORPHANET:1775	TERC	7012	HP:0005528	Bone marrow hypocellularity
ORPHANET:1775	TERC	7012	HP:0000982	Palmoplantar keratoderma
ORPHANET:1775	TERC	7012	HP:0000035	Abnormality of the testis
ORPHANET:1775	TERC	7012	HP:0002024	Malabsorption
ORPHANET:1775	TERC	7012	HP:0001034	Hypermelanotic macule
ORPHANET:1775	TERC	7012	HP:0002894	Neoplasm of the pancreas
ORPHANET:1775	TERC	7012	HP:0000365	Hearing impairment
ORPHANET:1775	TERC	7012	HP:0005374	Cellular immunodeficiency
ORPHANET:1775	TERC	7012	HP:0001399	Hepatic failure
ORPHANET:1775	TERC	7012	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1775	TERC	7012	HP:0004322	Short stature
ORPHANET:1775	TERC	7012	HP:0002665	Lymphoma
ORPHANET:1775	TERC	7012	HP:0002757	Recurrent fractures
ORPHANET:1775	TERC	7012	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1775	TERC	7012	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1775	TERC	7012	HP:0001744	Splenomegaly
ORPHANET:1775	TERC	7012	HP:0001511	Intrauterine growth retardation
ORPHANET:1775	TERC	7012	HP:0002575	Tracheoesophageal fistula
ORPHANET:1775	TERC	7012	HP:0001053	Hypopigmented skin patches
ORPHANET:1775	TERC	7012	HP:0002514	Cerebral calcification
ORPHANET:1775	TERC	7012	HP:0001798	Anonychia
ORPHANET:1775	TERC	7012	HP:0002240	Hepatomegaly
ORPHANET:1775	TERC	7012	HP:0002650	Scoliosis
ORPHANET:1775	TERC	7012	HP:0000518	Cataract
ORPHANET:1775	TERC	7012	HP:0002205	Recurrent respiratory infections
ORPHANET:1775	TERC	7012	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1775	TERC	7012	HP:0001873	Thrombocytopenia
ORPHANET:1775	TERC	7012	HP:0200042	Skin ulcer
ORPHANET:1775	TERC	7012	HP:0000975	Hyperhidrosis
ORPHANET:1775	TERC	7012	HP:0001596	Alopecia
ORPHANET:1775	TERC	7012	HP:0004349	Reduced bone mineral density
ORPHANET:1775	TERC	7012	HP:0100585	Telangiectasia of the skin
ORPHANET:1775	TERC	7012	HP:0000600	Abnormality of the pharynx
ORPHANET:1775	TERC	7012	HP:0000819	Diabetes mellitus
ORPHANET:1775	TERC	7012	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1775	TERC	7012	HP:0001874	Abnormality of neutrophils
ORPHANET:1775	TERC	7012	HP:0002216	Premature graying of hair
ORPHANET:1775	TINF2	26277	HP:0000534	Abnormality of the eyebrow
ORPHANET:1775	TINF2	26277	HP:0000670	Carious teeth
ORPHANET:1775	TINF2	26277	HP:0001231	Abnormality of the fingernails
ORPHANET:1775	TINF2	26277	HP:0001394	Cirrhosis
ORPHANET:1775	TINF2	26277	HP:0001928	Abnormality of coagulation
ORPHANET:1775	TINF2	26277	HP:0100543	Cognitive impairment
ORPHANET:1775	TINF2	26277	HP:0001903	Anemia
ORPHANET:1775	TINF2	26277	HP:0005599	Hypopigmentation of hair
ORPHANET:1775	TINF2	26277	HP:0005528	Bone marrow hypocellularity
ORPHANET:1775	TINF2	26277	HP:0000982	Palmoplantar keratoderma
ORPHANET:1775	TINF2	26277	HP:0000035	Abnormality of the testis
ORPHANET:1775	TINF2	26277	HP:0002024	Malabsorption
ORPHANET:1775	TINF2	26277	HP:0001034	Hypermelanotic macule
ORPHANET:1775	TINF2	26277	HP:0002894	Neoplasm of the pancreas
ORPHANET:1775	TINF2	26277	HP:0000365	Hearing impairment
ORPHANET:1775	TINF2	26277	HP:0005374	Cellular immunodeficiency
ORPHANET:1775	TINF2	26277	HP:0001399	Hepatic failure
ORPHANET:1775	TINF2	26277	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1775	TINF2	26277	HP:0004322	Short stature
ORPHANET:1775	TINF2	26277	HP:0002665	Lymphoma
ORPHANET:1775	TINF2	26277	HP:0002757	Recurrent fractures
ORPHANET:1775	TINF2	26277	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1775	TINF2	26277	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1775	TINF2	26277	HP:0001744	Splenomegaly
ORPHANET:1775	TINF2	26277	HP:0001511	Intrauterine growth retardation
ORPHANET:1775	TINF2	26277	HP:0002575	Tracheoesophageal fistula
ORPHANET:1775	TINF2	26277	HP:0001053	Hypopigmented skin patches
ORPHANET:1775	TINF2	26277	HP:0002514	Cerebral calcification
ORPHANET:1775	TINF2	26277	HP:0001798	Anonychia
ORPHANET:1775	TINF2	26277	HP:0002240	Hepatomegaly
ORPHANET:1775	TINF2	26277	HP:0002650	Scoliosis
ORPHANET:1775	TINF2	26277	HP:0000518	Cataract
ORPHANET:1775	TINF2	26277	HP:0002205	Recurrent respiratory infections
ORPHANET:1775	TINF2	26277	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1775	TINF2	26277	HP:0001873	Thrombocytopenia
ORPHANET:1775	TINF2	26277	HP:0200042	Skin ulcer
ORPHANET:1775	TINF2	26277	HP:0000975	Hyperhidrosis
ORPHANET:1775	TINF2	26277	HP:0001596	Alopecia
ORPHANET:1775	TINF2	26277	HP:0004349	Reduced bone mineral density
ORPHANET:1775	TINF2	26277	HP:0100585	Telangiectasia of the skin
ORPHANET:1775	TINF2	26277	HP:0000600	Abnormality of the pharynx
ORPHANET:1775	TINF2	26277	HP:0000819	Diabetes mellitus
ORPHANET:1775	TINF2	26277	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1775	TINF2	26277	HP:0001874	Abnormality of neutrophils
ORPHANET:1775	TINF2	26277	HP:0002216	Premature graying of hair
ORPHANET:1775	RTEL1	51750	HP:0000534	Abnormality of the eyebrow
ORPHANET:1775	RTEL1	51750	HP:0000670	Carious teeth
ORPHANET:1775	RTEL1	51750	HP:0001231	Abnormality of the fingernails
ORPHANET:1775	RTEL1	51750	HP:0001394	Cirrhosis
ORPHANET:1775	RTEL1	51750	HP:0001928	Abnormality of coagulation
ORPHANET:1775	RTEL1	51750	HP:0100543	Cognitive impairment
ORPHANET:1775	RTEL1	51750	HP:0001903	Anemia
ORPHANET:1775	RTEL1	51750	HP:0005599	Hypopigmentation of hair
ORPHANET:1775	RTEL1	51750	HP:0005528	Bone marrow hypocellularity
ORPHANET:1775	RTEL1	51750	HP:0000982	Palmoplantar keratoderma
ORPHANET:1775	RTEL1	51750	HP:0000035	Abnormality of the testis
ORPHANET:1775	RTEL1	51750	HP:0002024	Malabsorption
ORPHANET:1775	RTEL1	51750	HP:0001034	Hypermelanotic macule
ORPHANET:1775	RTEL1	51750	HP:0002894	Neoplasm of the pancreas
ORPHANET:1775	RTEL1	51750	HP:0000365	Hearing impairment
ORPHANET:1775	RTEL1	51750	HP:0005374	Cellular immunodeficiency
ORPHANET:1775	RTEL1	51750	HP:0001399	Hepatic failure
ORPHANET:1775	RTEL1	51750	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1775	RTEL1	51750	HP:0004322	Short stature
ORPHANET:1775	RTEL1	51750	HP:0002665	Lymphoma
ORPHANET:1775	RTEL1	51750	HP:0002757	Recurrent fractures
ORPHANET:1775	RTEL1	51750	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1775	RTEL1	51750	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1775	RTEL1	51750	HP:0001744	Splenomegaly
ORPHANET:1775	RTEL1	51750	HP:0001511	Intrauterine growth retardation
ORPHANET:1775	RTEL1	51750	HP:0002575	Tracheoesophageal fistula
ORPHANET:1775	RTEL1	51750	HP:0001053	Hypopigmented skin patches
ORPHANET:1775	RTEL1	51750	HP:0002514	Cerebral calcification
ORPHANET:1775	RTEL1	51750	HP:0001798	Anonychia
ORPHANET:1775	RTEL1	51750	HP:0002240	Hepatomegaly
ORPHANET:1775	RTEL1	51750	HP:0002650	Scoliosis
ORPHANET:1775	RTEL1	51750	HP:0000518	Cataract
ORPHANET:1775	RTEL1	51750	HP:0002205	Recurrent respiratory infections
ORPHANET:1775	RTEL1	51750	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1775	RTEL1	51750	HP:0001873	Thrombocytopenia
ORPHANET:1775	RTEL1	51750	HP:0200042	Skin ulcer
ORPHANET:1775	RTEL1	51750	HP:0000975	Hyperhidrosis
ORPHANET:1775	RTEL1	51750	HP:0001596	Alopecia
ORPHANET:1775	RTEL1	51750	HP:0004349	Reduced bone mineral density
ORPHANET:1775	RTEL1	51750	HP:0100585	Telangiectasia of the skin
ORPHANET:1775	RTEL1	51750	HP:0000600	Abnormality of the pharynx
ORPHANET:1775	RTEL1	51750	HP:0000819	Diabetes mellitus
ORPHANET:1775	RTEL1	51750	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1775	RTEL1	51750	HP:0001874	Abnormality of neutrophils
ORPHANET:1775	RTEL1	51750	HP:0002216	Premature graying of hair
ORPHANET:1775	TERT	7015	HP:0000534	Abnormality of the eyebrow
ORPHANET:1775	TERT	7015	HP:0000670	Carious teeth
ORPHANET:1775	TERT	7015	HP:0001231	Abnormality of the fingernails
ORPHANET:1775	TERT	7015	HP:0001394	Cirrhosis
ORPHANET:1775	TERT	7015	HP:0001928	Abnormality of coagulation
ORPHANET:1775	TERT	7015	HP:0100543	Cognitive impairment
ORPHANET:1775	TERT	7015	HP:0001903	Anemia
ORPHANET:1775	TERT	7015	HP:0005599	Hypopigmentation of hair
ORPHANET:1775	TERT	7015	HP:0005528	Bone marrow hypocellularity
ORPHANET:1775	TERT	7015	HP:0000982	Palmoplantar keratoderma
ORPHANET:1775	TERT	7015	HP:0000035	Abnormality of the testis
ORPHANET:1775	TERT	7015	HP:0002024	Malabsorption
ORPHANET:1775	TERT	7015	HP:0001034	Hypermelanotic macule
ORPHANET:1775	TERT	7015	HP:0002894	Neoplasm of the pancreas
ORPHANET:1775	TERT	7015	HP:0000365	Hearing impairment
ORPHANET:1775	TERT	7015	HP:0005374	Cellular immunodeficiency
ORPHANET:1775	TERT	7015	HP:0001399	Hepatic failure
ORPHANET:1775	TERT	7015	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1775	TERT	7015	HP:0004322	Short stature
ORPHANET:1775	TERT	7015	HP:0002665	Lymphoma
ORPHANET:1775	TERT	7015	HP:0002757	Recurrent fractures
ORPHANET:1775	TERT	7015	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1775	TERT	7015	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1775	TERT	7015	HP:0001744	Splenomegaly
ORPHANET:1775	TERT	7015	HP:0001511	Intrauterine growth retardation
ORPHANET:1775	TERT	7015	HP:0002575	Tracheoesophageal fistula
ORPHANET:1775	TERT	7015	HP:0001053	Hypopigmented skin patches
ORPHANET:1775	TERT	7015	HP:0002514	Cerebral calcification
ORPHANET:1775	TERT	7015	HP:0001798	Anonychia
ORPHANET:1775	TERT	7015	HP:0002240	Hepatomegaly
ORPHANET:1775	TERT	7015	HP:0002650	Scoliosis
ORPHANET:1775	TERT	7015	HP:0000518	Cataract
ORPHANET:1775	TERT	7015	HP:0002205	Recurrent respiratory infections
ORPHANET:1775	TERT	7015	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1775	TERT	7015	HP:0001873	Thrombocytopenia
ORPHANET:1775	TERT	7015	HP:0200042	Skin ulcer
ORPHANET:1775	TERT	7015	HP:0000975	Hyperhidrosis
ORPHANET:1775	TERT	7015	HP:0001596	Alopecia
ORPHANET:1775	TERT	7015	HP:0004349	Reduced bone mineral density
ORPHANET:1775	TERT	7015	HP:0100585	Telangiectasia of the skin
ORPHANET:1775	TERT	7015	HP:0000600	Abnormality of the pharynx
ORPHANET:1775	TERT	7015	HP:0000819	Diabetes mellitus
ORPHANET:1775	TERT	7015	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1775	TERT	7015	HP:0001874	Abnormality of neutrophils
ORPHANET:1775	TERT	7015	HP:0002216	Premature graying of hair
ORPHANET:1775	DKC1	1736	HP:0000534	Abnormality of the eyebrow
ORPHANET:1775	DKC1	1736	HP:0000670	Carious teeth
ORPHANET:1775	DKC1	1736	HP:0001231	Abnormality of the fingernails
ORPHANET:1775	DKC1	1736	HP:0001394	Cirrhosis
ORPHANET:1775	DKC1	1736	HP:0001928	Abnormality of coagulation
ORPHANET:1775	DKC1	1736	HP:0100543	Cognitive impairment
ORPHANET:1775	DKC1	1736	HP:0001903	Anemia
ORPHANET:1775	DKC1	1736	HP:0005599	Hypopigmentation of hair
ORPHANET:1775	DKC1	1736	HP:0005528	Bone marrow hypocellularity
ORPHANET:1775	DKC1	1736	HP:0000982	Palmoplantar keratoderma
ORPHANET:1775	DKC1	1736	HP:0000035	Abnormality of the testis
ORPHANET:1775	DKC1	1736	HP:0002024	Malabsorption
ORPHANET:1775	DKC1	1736	HP:0001034	Hypermelanotic macule
ORPHANET:1775	DKC1	1736	HP:0002894	Neoplasm of the pancreas
ORPHANET:1775	DKC1	1736	HP:0000365	Hearing impairment
ORPHANET:1775	DKC1	1736	HP:0005374	Cellular immunodeficiency
ORPHANET:1775	DKC1	1736	HP:0001399	Hepatic failure
ORPHANET:1775	DKC1	1736	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1775	DKC1	1736	HP:0004322	Short stature
ORPHANET:1775	DKC1	1736	HP:0002665	Lymphoma
ORPHANET:1775	DKC1	1736	HP:0002757	Recurrent fractures
ORPHANET:1775	DKC1	1736	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1775	DKC1	1736	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1775	DKC1	1736	HP:0001744	Splenomegaly
ORPHANET:1775	DKC1	1736	HP:0001511	Intrauterine growth retardation
ORPHANET:1775	DKC1	1736	HP:0002575	Tracheoesophageal fistula
ORPHANET:1775	DKC1	1736	HP:0001053	Hypopigmented skin patches
ORPHANET:1775	DKC1	1736	HP:0002514	Cerebral calcification
ORPHANET:1775	DKC1	1736	HP:0001798	Anonychia
ORPHANET:1775	DKC1	1736	HP:0002240	Hepatomegaly
ORPHANET:1775	DKC1	1736	HP:0002650	Scoliosis
ORPHANET:1775	DKC1	1736	HP:0000518	Cataract
ORPHANET:1775	DKC1	1736	HP:0002205	Recurrent respiratory infections
ORPHANET:1775	DKC1	1736	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1775	DKC1	1736	HP:0001873	Thrombocytopenia
ORPHANET:1775	DKC1	1736	HP:0200042	Skin ulcer
ORPHANET:1775	DKC1	1736	HP:0000975	Hyperhidrosis
ORPHANET:1775	DKC1	1736	HP:0001596	Alopecia
ORPHANET:1775	DKC1	1736	HP:0004349	Reduced bone mineral density
ORPHANET:1775	DKC1	1736	HP:0100585	Telangiectasia of the skin
ORPHANET:1775	DKC1	1736	HP:0000600	Abnormality of the pharynx
ORPHANET:1775	DKC1	1736	HP:0000819	Diabetes mellitus
ORPHANET:1775	DKC1	1736	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1775	DKC1	1736	HP:0001874	Abnormality of neutrophils
ORPHANET:1775	DKC1	1736	HP:0002216	Premature graying of hair
ORPHANET:1775	CTC1	80169	HP:0000534	Abnormality of the eyebrow
ORPHANET:1775	CTC1	80169	HP:0000670	Carious teeth
ORPHANET:1775	CTC1	80169	HP:0001231	Abnormality of the fingernails
ORPHANET:1775	CTC1	80169	HP:0001394	Cirrhosis
ORPHANET:1775	CTC1	80169	HP:0001928	Abnormality of coagulation
ORPHANET:1775	CTC1	80169	HP:0100543	Cognitive impairment
ORPHANET:1775	CTC1	80169	HP:0001903	Anemia
ORPHANET:1775	CTC1	80169	HP:0005599	Hypopigmentation of hair
ORPHANET:1775	CTC1	80169	HP:0005528	Bone marrow hypocellularity
ORPHANET:1775	CTC1	80169	HP:0000982	Palmoplantar keratoderma
ORPHANET:1775	CTC1	80169	HP:0000035	Abnormality of the testis
ORPHANET:1775	CTC1	80169	HP:0002024	Malabsorption
ORPHANET:1775	CTC1	80169	HP:0001034	Hypermelanotic macule
ORPHANET:1775	CTC1	80169	HP:0002894	Neoplasm of the pancreas
ORPHANET:1775	CTC1	80169	HP:0000365	Hearing impairment
ORPHANET:1775	CTC1	80169	HP:0005374	Cellular immunodeficiency
ORPHANET:1775	CTC1	80169	HP:0001399	Hepatic failure
ORPHANET:1775	CTC1	80169	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1775	CTC1	80169	HP:0004322	Short stature
ORPHANET:1775	CTC1	80169	HP:0002665	Lymphoma
ORPHANET:1775	CTC1	80169	HP:0002757	Recurrent fractures
ORPHANET:1775	CTC1	80169	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1775	CTC1	80169	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1775	CTC1	80169	HP:0001744	Splenomegaly
ORPHANET:1775	CTC1	80169	HP:0001511	Intrauterine growth retardation
ORPHANET:1775	CTC1	80169	HP:0002575	Tracheoesophageal fistula
ORPHANET:1775	CTC1	80169	HP:0001053	Hypopigmented skin patches
ORPHANET:1775	CTC1	80169	HP:0002514	Cerebral calcification
ORPHANET:1775	CTC1	80169	HP:0001798	Anonychia
ORPHANET:1775	CTC1	80169	HP:0002240	Hepatomegaly
ORPHANET:1775	CTC1	80169	HP:0002650	Scoliosis
ORPHANET:1775	CTC1	80169	HP:0000518	Cataract
ORPHANET:1775	CTC1	80169	HP:0002205	Recurrent respiratory infections
ORPHANET:1775	CTC1	80169	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1775	CTC1	80169	HP:0001873	Thrombocytopenia
ORPHANET:1775	CTC1	80169	HP:0200042	Skin ulcer
ORPHANET:1775	CTC1	80169	HP:0000975	Hyperhidrosis
ORPHANET:1775	CTC1	80169	HP:0001596	Alopecia
ORPHANET:1775	CTC1	80169	HP:0004349	Reduced bone mineral density
ORPHANET:1775	CTC1	80169	HP:0100585	Telangiectasia of the skin
ORPHANET:1775	CTC1	80169	HP:0000600	Abnormality of the pharynx
ORPHANET:1775	CTC1	80169	HP:0000819	Diabetes mellitus
ORPHANET:1775	CTC1	80169	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1775	CTC1	80169	HP:0001874	Abnormality of neutrophils
ORPHANET:1775	CTC1	80169	HP:0002216	Premature graying of hair
ORPHANET:1775	WRAP53	55135	HP:0000534	Abnormality of the eyebrow
ORPHANET:1775	WRAP53	55135	HP:0000670	Carious teeth
ORPHANET:1775	WRAP53	55135	HP:0001231	Abnormality of the fingernails
ORPHANET:1775	WRAP53	55135	HP:0001394	Cirrhosis
ORPHANET:1775	WRAP53	55135	HP:0001928	Abnormality of coagulation
ORPHANET:1775	WRAP53	55135	HP:0100543	Cognitive impairment
ORPHANET:1775	WRAP53	55135	HP:0001903	Anemia
ORPHANET:1775	WRAP53	55135	HP:0005599	Hypopigmentation of hair
ORPHANET:1775	WRAP53	55135	HP:0005528	Bone marrow hypocellularity
ORPHANET:1775	WRAP53	55135	HP:0000982	Palmoplantar keratoderma
ORPHANET:1775	WRAP53	55135	HP:0000035	Abnormality of the testis
ORPHANET:1775	WRAP53	55135	HP:0002024	Malabsorption
ORPHANET:1775	WRAP53	55135	HP:0001034	Hypermelanotic macule
ORPHANET:1775	WRAP53	55135	HP:0002894	Neoplasm of the pancreas
ORPHANET:1775	WRAP53	55135	HP:0000365	Hearing impairment
ORPHANET:1775	WRAP53	55135	HP:0005374	Cellular immunodeficiency
ORPHANET:1775	WRAP53	55135	HP:0001399	Hepatic failure
ORPHANET:1775	WRAP53	55135	HP:0010624	Aplastic/hypoplastic toenail
ORPHANET:1775	WRAP53	55135	HP:0004322	Short stature
ORPHANET:1775	WRAP53	55135	HP:0002665	Lymphoma
ORPHANET:1775	WRAP53	55135	HP:0002757	Recurrent fractures
ORPHANET:1775	WRAP53	55135	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:1775	WRAP53	55135	HP:0100627	Displacement of the external urethral meatus
ORPHANET:1775	WRAP53	55135	HP:0001744	Splenomegaly
ORPHANET:1775	WRAP53	55135	HP:0001511	Intrauterine growth retardation
ORPHANET:1775	WRAP53	55135	HP:0002575	Tracheoesophageal fistula
ORPHANET:1775	WRAP53	55135	HP:0001053	Hypopigmented skin patches
ORPHANET:1775	WRAP53	55135	HP:0002514	Cerebral calcification
ORPHANET:1775	WRAP53	55135	HP:0001798	Anonychia
ORPHANET:1775	WRAP53	55135	HP:0002240	Hepatomegaly
ORPHANET:1775	WRAP53	55135	HP:0002650	Scoliosis
ORPHANET:1775	WRAP53	55135	HP:0000518	Cataract
ORPHANET:1775	WRAP53	55135	HP:0002205	Recurrent respiratory infections
ORPHANET:1775	WRAP53	55135	HP:0000008	Abnormality of female internal genitalia
ORPHANET:1775	WRAP53	55135	HP:0001873	Thrombocytopenia
ORPHANET:1775	WRAP53	55135	HP:0200042	Skin ulcer
ORPHANET:1775	WRAP53	55135	HP:0000975	Hyperhidrosis
ORPHANET:1775	WRAP53	55135	HP:0001596	Alopecia
ORPHANET:1775	WRAP53	55135	HP:0004349	Reduced bone mineral density
ORPHANET:1775	WRAP53	55135	HP:0100585	Telangiectasia of the skin
ORPHANET:1775	WRAP53	55135	HP:0000600	Abnormality of the pharynx
ORPHANET:1775	WRAP53	55135	HP:0000819	Diabetes mellitus
ORPHANET:1775	WRAP53	55135	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHANET:1775	WRAP53	55135	HP:0001874	Abnormality of neutrophils
ORPHANET:1775	WRAP53	55135	HP:0002216	Premature graying of hair
OMIM:604060	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:604060	BSND	7809	HP:0000365	Hearing impairment
OMIM:604060	ESPN	83715	HP:0000365	Hearing impairment
OMIM:604060	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:604060	OTOA	146183	HP:0000365	Hearing impairment
OMIM:604060	GJA1	2697	HP:0000365	Hearing impairment
OMIM:604060	MET	4233	HP:0000365	Hearing impairment
OMIM:604060	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:604060	HGF	3082	HP:0000365	Hearing impairment
OMIM:604060	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:604060	EPS8	2059	HP:0000365	Hearing impairment
OMIM:604060	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:604060	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:604060	GJB2	2706	HP:0000365	Hearing impairment
OMIM:604060	GJB3	2707	HP:0000365	Hearing impairment
OMIM:604060	CABP2	51475	HP:0000365	Hearing impairment
OMIM:604060	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:604060	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:604060	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:604060	CIB2	10518	HP:0000365	Hearing impairment
OMIM:604060	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:604060	KARS	3735	HP:0000365	Hearing impairment
OMIM:604060	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:604060	TMC1	117531	HP:0000365	Hearing impairment
OMIM:604060	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:604060	OTOF	9381	HP:0000365	Hearing impairment
OMIM:604060	MYO6	4646	HP:0000365	Hearing impairment
OMIM:604060	TMIE	259236	HP:0000365	Hearing impairment
OMIM:604060	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:604060	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:604060	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:604060	TPRN	286262	HP:0000365	Hearing impairment
OMIM:604060	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:604060	GJB6	10804	HP:0000365	Hearing impairment
OMIM:604060	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:604060	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:604060	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:604060	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:604060	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:604060	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:604060	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:604060	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:604060	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:604060	CDH23	64072	HP:0000365	Hearing impairment
OMIM:604060	RDX	5962	HP:0000365	Hearing impairment
OMIM:604060	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:604060	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:604060	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:604060	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:604060	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:604060	STRC	161497	HP:0000365	Hearing impairment
OMIM:604060	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:604060	TECTA	7007	HP:0000365	Hearing impairment
OMIM:604060	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:604060	USH1C	10083	HP:0000365	Hearing impairment
OMIM:604060	ADCY1	107	HP:0000365	Hearing impairment
OMIM:604060	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:604060	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:604060	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:604060	OTOG	340990	HP:0000365	Hearing impairment
OMIM:272300	SUOX	6821	HP:0000713	Agitation
OMIM:272300	SUOX	6821	HP:0001263	Global developmental delay
OMIM:272300	SUOX	6821	HP:0000964	Eczema
OMIM:272300	SUOX	6821	HP:0001083	Ectopia lentis
OMIM:272300	SUOX	6821	HP:0002213	Fine hair
OMIM:272300	SUOX	6821	HP:0000007	Autosomal recessive inheritance
OMIM:272300	SUOX	6821	HP:0001522	Death in infancy
OMIM:272300	SUOX	6821	HP:0001250	Seizures
OMIM:272300	SUOX	6821	HP:0000684	Delayed eruption of teeth
OMIM:272300	SUOX	6821	HP:0001251	Ataxia
OMIM:272300	SUOX	6821	HP:0001276	Hypertonia
OMIM:272300	SUOX	6821	HP:0001266	Choreoathetosis
OMIM:612284	B9D1	27077	HP:0006706	Cystic liver disease
OMIM:612284	B9D1	27077	HP:0002089	Pulmonary hypoplasia
OMIM:612284	B9D1	27077	HP:0000107	Renal cyst
OMIM:612284	B9D1	27077	HP:0000238	Hydrocephalus
OMIM:612284	B9D1	27077	HP:0002323	Anencephaly
OMIM:612284	B9D1	27077	HP:0000204	Cleft upper lip
OMIM:612284	B9D1	27077	HP:0002085	Occipital encephalocele
OMIM:612284	B9D1	27077	HP:0001162	Postaxial hand polydactyly
OMIM:612284	B9D1	27077	HP:0000175	Cleft palate
OMIM:612284	B9D1	27077	HP:0001395	Hepatic fibrosis
OMIM:612284	B9D1	27077	HP:0001762	Talipes equinovarus
OMIM:612284	B9D1	27077	HP:0000812	Abnormal internal genitalia
OMIM:612284	B9D1	27077	HP:0001408	Bile duct proliferation
OMIM:612284	RPGRIP1	57096	HP:0006706	Cystic liver disease
OMIM:612284	RPGRIP1	57096	HP:0002089	Pulmonary hypoplasia
OMIM:612284	RPGRIP1	57096	HP:0000107	Renal cyst
OMIM:612284	RPGRIP1	57096	HP:0000238	Hydrocephalus
OMIM:612284	RPGRIP1	57096	HP:0002323	Anencephaly
OMIM:612284	RPGRIP1	57096	HP:0000204	Cleft upper lip
OMIM:612284	RPGRIP1	57096	HP:0002085	Occipital encephalocele
OMIM:612284	RPGRIP1	57096	HP:0001162	Postaxial hand polydactyly
OMIM:612284	RPGRIP1	57096	HP:0000175	Cleft palate
OMIM:612284	RPGRIP1	57096	HP:0001395	Hepatic fibrosis
OMIM:612284	RPGRIP1	57096	HP:0001762	Talipes equinovarus
OMIM:612284	RPGRIP1	57096	HP:0000812	Abnormal internal genitalia
OMIM:612284	RPGRIP1	57096	HP:0001408	Bile duct proliferation
OMIM:612284	CC2D2A	57545	HP:0006706	Cystic liver disease
OMIM:612284	CC2D2A	57545	HP:0002089	Pulmonary hypoplasia
OMIM:612284	CC2D2A	57545	HP:0000107	Renal cyst
OMIM:612284	CC2D2A	57545	HP:0000238	Hydrocephalus
OMIM:612284	CC2D2A	57545	HP:0002323	Anencephaly
OMIM:612284	CC2D2A	57545	HP:0000204	Cleft upper lip
OMIM:612284	CC2D2A	57545	HP:0002085	Occipital encephalocele
OMIM:612284	CC2D2A	57545	HP:0001162	Postaxial hand polydactyly
OMIM:612284	CC2D2A	57545	HP:0000175	Cleft palate
OMIM:612284	CC2D2A	57545	HP:0001395	Hepatic fibrosis
OMIM:612284	CC2D2A	57545	HP:0001762	Talipes equinovarus
OMIM:612284	CC2D2A	57545	HP:0000812	Abnormal internal genitalia
OMIM:612284	CC2D2A	57545	HP:0001408	Bile duct proliferation
OMIM:612284	B9D2	80776	HP:0006706	Cystic liver disease
OMIM:612284	B9D2	80776	HP:0002089	Pulmonary hypoplasia
OMIM:612284	B9D2	80776	HP:0000107	Renal cyst
OMIM:612284	B9D2	80776	HP:0000238	Hydrocephalus
OMIM:612284	B9D2	80776	HP:0002323	Anencephaly
OMIM:612284	B9D2	80776	HP:0000204	Cleft upper lip
OMIM:612284	B9D2	80776	HP:0002085	Occipital encephalocele
OMIM:612284	B9D2	80776	HP:0001162	Postaxial hand polydactyly
OMIM:612284	B9D2	80776	HP:0000175	Cleft palate
OMIM:612284	B9D2	80776	HP:0001395	Hepatic fibrosis
OMIM:612284	B9D2	80776	HP:0001762	Talipes equinovarus
OMIM:612284	B9D2	80776	HP:0000812	Abnormal internal genitalia
OMIM:612284	B9D2	80776	HP:0001408	Bile duct proliferation
OMIM:612284	CSPP1	79848	HP:0006706	Cystic liver disease
OMIM:612284	CSPP1	79848	HP:0002089	Pulmonary hypoplasia
OMIM:612284	CSPP1	79848	HP:0000107	Renal cyst
OMIM:612284	CSPP1	79848	HP:0000238	Hydrocephalus
OMIM:612284	CSPP1	79848	HP:0002323	Anencephaly
OMIM:612284	CSPP1	79848	HP:0000204	Cleft upper lip
OMIM:612284	CSPP1	79848	HP:0002085	Occipital encephalocele
OMIM:612284	CSPP1	79848	HP:0001162	Postaxial hand polydactyly
OMIM:612284	CSPP1	79848	HP:0000175	Cleft palate
OMIM:612284	CSPP1	79848	HP:0001395	Hepatic fibrosis
OMIM:612284	CSPP1	79848	HP:0001762	Talipes equinovarus
OMIM:612284	CSPP1	79848	HP:0000812	Abnormal internal genitalia
OMIM:612284	CSPP1	79848	HP:0001408	Bile duct proliferation
OMIM:612284	TMEM67	91147	HP:0006706	Cystic liver disease
OMIM:612284	TMEM67	91147	HP:0002089	Pulmonary hypoplasia
OMIM:612284	TMEM67	91147	HP:0000107	Renal cyst
OMIM:612284	TMEM67	91147	HP:0000238	Hydrocephalus
OMIM:612284	TMEM67	91147	HP:0002323	Anencephaly
OMIM:612284	TMEM67	91147	HP:0000204	Cleft upper lip
OMIM:612284	TMEM67	91147	HP:0002085	Occipital encephalocele
OMIM:612284	TMEM67	91147	HP:0001162	Postaxial hand polydactyly
OMIM:612284	TMEM67	91147	HP:0000175	Cleft palate
OMIM:612284	TMEM67	91147	HP:0001395	Hepatic fibrosis
OMIM:612284	TMEM67	91147	HP:0001762	Talipes equinovarus
OMIM:612284	TMEM67	91147	HP:0000812	Abnormal internal genitalia
OMIM:612284	TMEM67	91147	HP:0001408	Bile duct proliferation
OMIM:612284	WDPCP	51057	HP:0006706	Cystic liver disease
OMIM:612284	WDPCP	51057	HP:0002089	Pulmonary hypoplasia
OMIM:612284	WDPCP	51057	HP:0000107	Renal cyst
OMIM:612284	WDPCP	51057	HP:0000238	Hydrocephalus
OMIM:612284	WDPCP	51057	HP:0002323	Anencephaly
OMIM:612284	WDPCP	51057	HP:0000204	Cleft upper lip
OMIM:612284	WDPCP	51057	HP:0002085	Occipital encephalocele
OMIM:612284	WDPCP	51057	HP:0001162	Postaxial hand polydactyly
OMIM:612284	WDPCP	51057	HP:0000175	Cleft palate
OMIM:612284	WDPCP	51057	HP:0001395	Hepatic fibrosis
OMIM:612284	WDPCP	51057	HP:0001762	Talipes equinovarus
OMIM:612284	WDPCP	51057	HP:0000812	Abnormal internal genitalia
OMIM:612284	WDPCP	51057	HP:0001408	Bile duct proliferation
OMIM:612284	MKS1	54903	HP:0006706	Cystic liver disease
OMIM:612284	MKS1	54903	HP:0002089	Pulmonary hypoplasia
OMIM:612284	MKS1	54903	HP:0000107	Renal cyst
OMIM:612284	MKS1	54903	HP:0000238	Hydrocephalus
OMIM:612284	MKS1	54903	HP:0002323	Anencephaly
OMIM:612284	MKS1	54903	HP:0000204	Cleft upper lip
OMIM:612284	MKS1	54903	HP:0002085	Occipital encephalocele
OMIM:612284	MKS1	54903	HP:0001162	Postaxial hand polydactyly
OMIM:612284	MKS1	54903	HP:0000175	Cleft palate
OMIM:612284	MKS1	54903	HP:0001395	Hepatic fibrosis
OMIM:612284	MKS1	54903	HP:0001762	Talipes equinovarus
OMIM:612284	MKS1	54903	HP:0000812	Abnormal internal genitalia
OMIM:612284	MKS1	54903	HP:0001408	Bile duct proliferation
OMIM:612284	CEP290	80184	HP:0006706	Cystic liver disease
OMIM:612284	CEP290	80184	HP:0002089	Pulmonary hypoplasia
OMIM:612284	CEP290	80184	HP:0000107	Renal cyst
OMIM:612284	CEP290	80184	HP:0000238	Hydrocephalus
OMIM:612284	CEP290	80184	HP:0002323	Anencephaly
OMIM:612284	CEP290	80184	HP:0000204	Cleft upper lip
OMIM:612284	CEP290	80184	HP:0002085	Occipital encephalocele
OMIM:612284	CEP290	80184	HP:0001162	Postaxial hand polydactyly
OMIM:612284	CEP290	80184	HP:0000175	Cleft palate
OMIM:612284	CEP290	80184	HP:0001395	Hepatic fibrosis
OMIM:612284	CEP290	80184	HP:0001762	Talipes equinovarus
OMIM:612284	CEP290	80184	HP:0000812	Abnormal internal genitalia
OMIM:612284	CEP290	80184	HP:0001408	Bile duct proliferation
OMIM:612284	RPGRIP1L	23322	HP:0006706	Cystic liver disease
OMIM:612284	RPGRIP1L	23322	HP:0002089	Pulmonary hypoplasia
OMIM:612284	RPGRIP1L	23322	HP:0000107	Renal cyst
OMIM:612284	RPGRIP1L	23322	HP:0000238	Hydrocephalus
OMIM:612284	RPGRIP1L	23322	HP:0002323	Anencephaly
OMIM:612284	RPGRIP1L	23322	HP:0000204	Cleft upper lip
OMIM:612284	RPGRIP1L	23322	HP:0002085	Occipital encephalocele
OMIM:612284	RPGRIP1L	23322	HP:0001162	Postaxial hand polydactyly
OMIM:612284	RPGRIP1L	23322	HP:0000175	Cleft palate
OMIM:612284	RPGRIP1L	23322	HP:0001395	Hepatic fibrosis
OMIM:612284	RPGRIP1L	23322	HP:0001762	Talipes equinovarus
OMIM:612284	RPGRIP1L	23322	HP:0000812	Abnormal internal genitalia
OMIM:612284	RPGRIP1L	23322	HP:0001408	Bile duct proliferation
OMIM:612284	TCTN2	79867	HP:0006706	Cystic liver disease
OMIM:612284	TCTN2	79867	HP:0002089	Pulmonary hypoplasia
OMIM:612284	TCTN2	79867	HP:0000107	Renal cyst
OMIM:612284	TCTN2	79867	HP:0000238	Hydrocephalus
OMIM:612284	TCTN2	79867	HP:0002323	Anencephaly
OMIM:612284	TCTN2	79867	HP:0000204	Cleft upper lip
OMIM:612284	TCTN2	79867	HP:0002085	Occipital encephalocele
OMIM:612284	TCTN2	79867	HP:0001162	Postaxial hand polydactyly
OMIM:612284	TCTN2	79867	HP:0000175	Cleft palate
OMIM:612284	TCTN2	79867	HP:0001395	Hepatic fibrosis
OMIM:612284	TCTN2	79867	HP:0001762	Talipes equinovarus
OMIM:612284	TCTN2	79867	HP:0000812	Abnormal internal genitalia
OMIM:612284	TCTN2	79867	HP:0001408	Bile duct proliferation
OMIM:612284	TMEM216	51259	HP:0006706	Cystic liver disease
OMIM:612284	TMEM216	51259	HP:0002089	Pulmonary hypoplasia
OMIM:612284	TMEM216	51259	HP:0000107	Renal cyst
OMIM:612284	TMEM216	51259	HP:0000238	Hydrocephalus
OMIM:612284	TMEM216	51259	HP:0002323	Anencephaly
OMIM:612284	TMEM216	51259	HP:0000204	Cleft upper lip
OMIM:612284	TMEM216	51259	HP:0002085	Occipital encephalocele
OMIM:612284	TMEM216	51259	HP:0001162	Postaxial hand polydactyly
OMIM:612284	TMEM216	51259	HP:0000175	Cleft palate
OMIM:612284	TMEM216	51259	HP:0001395	Hepatic fibrosis
OMIM:612284	TMEM216	51259	HP:0001762	Talipes equinovarus
OMIM:612284	TMEM216	51259	HP:0000812	Abnormal internal genitalia
OMIM:612284	TMEM216	51259	HP:0001408	Bile duct proliferation
OMIM:612284	TMEM231	79583	HP:0006706	Cystic liver disease
OMIM:612284	TMEM231	79583	HP:0002089	Pulmonary hypoplasia
OMIM:612284	TMEM231	79583	HP:0000107	Renal cyst
OMIM:612284	TMEM231	79583	HP:0000238	Hydrocephalus
OMIM:612284	TMEM231	79583	HP:0002323	Anencephaly
OMIM:612284	TMEM231	79583	HP:0000204	Cleft upper lip
OMIM:612284	TMEM231	79583	HP:0002085	Occipital encephalocele
OMIM:612284	TMEM231	79583	HP:0001162	Postaxial hand polydactyly
OMIM:612284	TMEM231	79583	HP:0000175	Cleft palate
OMIM:612284	TMEM231	79583	HP:0001395	Hepatic fibrosis
OMIM:612284	TMEM231	79583	HP:0001762	Talipes equinovarus
OMIM:612284	TMEM231	79583	HP:0000812	Abnormal internal genitalia
OMIM:612284	TMEM231	79583	HP:0001408	Bile duct proliferation
OMIM:176450	MNX1	3110	HP:0004796	Gastrointestinal obstruction
OMIM:176450	MNX1	3110	HP:0000076	Vesicoureteral reflux
OMIM:176450	MNX1	3110	HP:0003829	Incomplete penetrance
OMIM:176450	MNX1	3110	HP:0012450	Chronic constipation
OMIM:176450	MNX1	3110	HP:0000048	Bifid scrotum
OMIM:176450	MNX1	3110	HP:0000085	Horseshoe kidney
OMIM:176450	MNX1	3110	HP:0100026	Arteriovenous malformation
OMIM:176450	MNX1	3110	HP:0002023	Anal atresia
OMIM:176450	MNX1	3110	HP:0000020	Urinary incontinence
OMIM:176450	MNX1	3110	HP:0002025	Anal stenosis
OMIM:176450	MNX1	3110	HP:0008736	Hypoplasia of penis
OMIM:176450	MNX1	3110	HP:0000813	Bicornuate uterus
OMIM:176450	MNX1	3110	HP:0100627	Displacement of the external urethral meatus
OMIM:176450	MNX1	3110	HP:0000143	Rectovaginal fistula
OMIM:176450	MNX1	3110	HP:0001263	Global developmental delay
OMIM:176450	MNX1	3110	HP:0000010	Recurrent urinary tract infections
OMIM:176450	MNX1	3110	HP:0000006	Autosomal dominant inheritance
OMIM:176450	MNX1	3110	HP:0000037	Male pseudohermaphroditism
OMIM:176450	MNX1	3110	HP:0003270	Abdominal distention
ORPHANET:36412	DNASE1L3	1776	HP:0001063	Acrocyanosis
ORPHANET:36412	DNASE1L3	1776	HP:0001654	Abnormality of the heart valves
ORPHANET:36412	DNASE1L3	1776	HP:0003326	Myalgia
ORPHANET:36412	DNASE1L3	1776	HP:0006510	Chronic obstructive pulmonary disease
ORPHANET:36412	DNASE1L3	1776	HP:0000083	Renal insufficiency
ORPHANET:36412	DNASE1L3	1776	HP:0000988	Skin rash
ORPHANET:36412	DNASE1L3	1776	HP:0004374	Hemiplegia/hemiparesis
ORPHANET:36412	DNASE1L3	1776	HP:0001315	Reduced tendon reflexes
ORPHANET:36412	DNASE1L3	1776	HP:0002024	Malabsorption
ORPHANET:36412	DNASE1L3	1776	HP:0002091	Restrictive lung disease
ORPHANET:36412	DNASE1L3	1776	HP:0100533	Inflammatory abnormality of the eye
ORPHANET:36412	DNASE1L3	1776	HP:0000093	Proteinuria
ORPHANET:36412	DNASE1L3	1776	HP:0002093	Respiratory insufficiency
ORPHANET:36412	DNASE1L3	1776	HP:0002633	Vasculitis
ORPHANET:36412	DNASE1L3	1776	HP:0002240	Hepatomegaly
ORPHANET:36412	DNASE1L3	1776	HP:0001250	Seizures
ORPHANET:36412	DNASE1L3	1776	HP:0001287	Meningitis
ORPHANET:36412	DNASE1L3	1776	HP:0002097	Emphysema
ORPHANET:36412	DNASE1L3	1776	HP:0000989	Pruritus
ORPHANET:36412	DNASE1L3	1776	HP:0001369	Arthritis
ORPHANET:36412	DNASE1L3	1776	HP:0006824	Cranial nerve paralysis
ORPHANET:36412	DNASE1L3	1776	HP:0005339	Abnormality of complement system
ORPHANET:36412	DNASE1L3	1776	HP:0001744	Splenomegaly
ORPHANET:36412	DNASE1L3	1776	HP:0001541	Ascites
ORPHANET:36412	DNASE1L3	1776	HP:0007400	Irregular hyperpigmentation
ORPHANET:36412	DNASE1L3	1776	HP:0002017	Nausea and vomiting
ORPHANET:36412	DNASE1L3	1776	HP:0000790	Hematuria
ORPHANET:36412	DNASE1L3	1776	HP:0002716	Lymphadenopathy
ORPHANET:36412	DNASE1L3	1776	HP:0100326	Immunologic hypersensitivity
ORPHANET:36412	DNASE1L3	1776	HP:0000407	Sensorineural hearing impairment
ORPHANET:36412	DNASE1L3	1776	HP:0100273	Neoplasm of the colon
ORPHANET:36412	DNASE1L3	1776	HP:0002027	Abdominal pain
ORPHANET:36412	DNASE1L3	1776	HP:0002960	Autoimmunity
ORPHANET:36412	DNASE1L3	1776	HP:0003401	Paresthesia
ORPHANET:36412	DNASE1L3	1776	HP:0002665	Lymphoma
OMIM:606612	POMT2	29954	HP:0003307	Hyperlordosis
OMIM:606612	POMT2	29954	HP:0003326	Myalgia
OMIM:606612	POMT2	29954	HP:0003724	Shoulder girdle muscle atrophy
OMIM:606612	POMT2	29954	HP:0002350	Cerebellar cyst
OMIM:606612	POMT2	29954	HP:0010628	Facial palsy
OMIM:606612	POMT2	29954	HP:0002359	Frequent falls
OMIM:606612	POMT2	29954	HP:0002650	Scoliosis
OMIM:606612	POMT2	29954	HP:0003458	EMG: myopathic abnormalities
OMIM:606612	POMT2	29954	HP:0001771	Achilles tendon contracture
OMIM:606612	POMT2	29954	HP:0003741	Congenital muscular dystrophy
OMIM:606612	POMT2	29954	HP:0001302	Pachygyria
OMIM:606612	POMT2	29954	HP:0008981	Calf muscle hypertrophy
OMIM:606612	POMT2	29954	HP:0002119	Ventriculomegaly
OMIM:606612	POMT2	29954	HP:0002808	Kyphosis
OMIM:606612	POMT2	29954	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606612	POMT2	29954	HP:0000158	Macroglossia
OMIM:606612	POMT2	29954	HP:0001249	Intellectual disability
OMIM:606612	POMT2	29954	HP:0001272	Cerebellar atrophy
OMIM:606612	POMT2	29954	HP:0002500	Abnormality of the cerebral white matter
OMIM:606612	POMT2	29954	HP:0003394	Muscle cramps
OMIM:606612	POMT2	29954	HP:0003701	Proximal muscle weakness
OMIM:606612	POMT2	29954	HP:0002194	Delayed gross motor development
OMIM:606612	POMT2	29954	HP:0002355	Difficulty walking
OMIM:606612	POMT2	29954	HP:0003577	Congenital onset
OMIM:606612	POMT2	29954	HP:0002948	Vertebral fusion
OMIM:606612	POMT2	29954	HP:0000252	Microcephaly
OMIM:606612	POMT2	29954	HP:0000007	Autosomal recessive inheritance
OMIM:606612	POMT2	29954	HP:0001319	Neonatal hypotonia
OMIM:606612	POMT2	29954	HP:0003547	Shoulder girdle muscle weakness
OMIM:606612	POMT2	29954	HP:0003828	Variable expressivity
OMIM:606612	POMT2	29954	HP:0008872	Feeding difficulties in infancy
OMIM:606612	POMT2	29954	HP:0003324	Generalized muscle weakness
OMIM:606612	POMT2	29954	HP:0007126	Proximal amyotrophy
OMIM:606612	GMPPB	29925	HP:0003307	Hyperlordosis
OMIM:606612	GMPPB	29925	HP:0003326	Myalgia
OMIM:606612	GMPPB	29925	HP:0003724	Shoulder girdle muscle atrophy
OMIM:606612	GMPPB	29925	HP:0002350	Cerebellar cyst
OMIM:606612	GMPPB	29925	HP:0010628	Facial palsy
OMIM:606612	GMPPB	29925	HP:0002359	Frequent falls
OMIM:606612	GMPPB	29925	HP:0002650	Scoliosis
OMIM:606612	GMPPB	29925	HP:0003458	EMG: myopathic abnormalities
OMIM:606612	GMPPB	29925	HP:0001771	Achilles tendon contracture
OMIM:606612	GMPPB	29925	HP:0003741	Congenital muscular dystrophy
OMIM:606612	GMPPB	29925	HP:0001302	Pachygyria
OMIM:606612	GMPPB	29925	HP:0008981	Calf muscle hypertrophy
OMIM:606612	GMPPB	29925	HP:0002119	Ventriculomegaly
OMIM:606612	GMPPB	29925	HP:0002808	Kyphosis
OMIM:606612	GMPPB	29925	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606612	GMPPB	29925	HP:0000158	Macroglossia
OMIM:606612	GMPPB	29925	HP:0001249	Intellectual disability
OMIM:606612	GMPPB	29925	HP:0001272	Cerebellar atrophy
OMIM:606612	GMPPB	29925	HP:0002500	Abnormality of the cerebral white matter
OMIM:606612	GMPPB	29925	HP:0003394	Muscle cramps
OMIM:606612	GMPPB	29925	HP:0003701	Proximal muscle weakness
OMIM:606612	GMPPB	29925	HP:0002194	Delayed gross motor development
OMIM:606612	GMPPB	29925	HP:0002355	Difficulty walking
OMIM:606612	GMPPB	29925	HP:0003577	Congenital onset
OMIM:606612	GMPPB	29925	HP:0002948	Vertebral fusion
OMIM:606612	GMPPB	29925	HP:0000252	Microcephaly
OMIM:606612	GMPPB	29925	HP:0000007	Autosomal recessive inheritance
OMIM:606612	GMPPB	29925	HP:0001319	Neonatal hypotonia
OMIM:606612	GMPPB	29925	HP:0003547	Shoulder girdle muscle weakness
OMIM:606612	GMPPB	29925	HP:0003828	Variable expressivity
OMIM:606612	GMPPB	29925	HP:0008872	Feeding difficulties in infancy
OMIM:606612	GMPPB	29925	HP:0003324	Generalized muscle weakness
OMIM:606612	GMPPB	29925	HP:0007126	Proximal amyotrophy
OMIM:606612	POMGNT1	55624	HP:0003307	Hyperlordosis
OMIM:606612	POMGNT1	55624	HP:0003326	Myalgia
OMIM:606612	POMGNT1	55624	HP:0003724	Shoulder girdle muscle atrophy
OMIM:606612	POMGNT1	55624	HP:0002350	Cerebellar cyst
OMIM:606612	POMGNT1	55624	HP:0010628	Facial palsy
OMIM:606612	POMGNT1	55624	HP:0002359	Frequent falls
OMIM:606612	POMGNT1	55624	HP:0002650	Scoliosis
OMIM:606612	POMGNT1	55624	HP:0003458	EMG: myopathic abnormalities
OMIM:606612	POMGNT1	55624	HP:0001771	Achilles tendon contracture
OMIM:606612	POMGNT1	55624	HP:0003741	Congenital muscular dystrophy
OMIM:606612	POMGNT1	55624	HP:0001302	Pachygyria
OMIM:606612	POMGNT1	55624	HP:0008981	Calf muscle hypertrophy
OMIM:606612	POMGNT1	55624	HP:0002119	Ventriculomegaly
OMIM:606612	POMGNT1	55624	HP:0002808	Kyphosis
OMIM:606612	POMGNT1	55624	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606612	POMGNT1	55624	HP:0000158	Macroglossia
OMIM:606612	POMGNT1	55624	HP:0001249	Intellectual disability
OMIM:606612	POMGNT1	55624	HP:0001272	Cerebellar atrophy
OMIM:606612	POMGNT1	55624	HP:0002500	Abnormality of the cerebral white matter
OMIM:606612	POMGNT1	55624	HP:0003394	Muscle cramps
OMIM:606612	POMGNT1	55624	HP:0003701	Proximal muscle weakness
OMIM:606612	POMGNT1	55624	HP:0002194	Delayed gross motor development
OMIM:606612	POMGNT1	55624	HP:0002355	Difficulty walking
OMIM:606612	POMGNT1	55624	HP:0003577	Congenital onset
OMIM:606612	POMGNT1	55624	HP:0002948	Vertebral fusion
OMIM:606612	POMGNT1	55624	HP:0000252	Microcephaly
OMIM:606612	POMGNT1	55624	HP:0000007	Autosomal recessive inheritance
OMIM:606612	POMGNT1	55624	HP:0001319	Neonatal hypotonia
OMIM:606612	POMGNT1	55624	HP:0003547	Shoulder girdle muscle weakness
OMIM:606612	POMGNT1	55624	HP:0003828	Variable expressivity
OMIM:606612	POMGNT1	55624	HP:0008872	Feeding difficulties in infancy
OMIM:606612	POMGNT1	55624	HP:0003324	Generalized muscle weakness
OMIM:606612	POMGNT1	55624	HP:0007126	Proximal amyotrophy
OMIM:606612	POMT1	10585	HP:0003307	Hyperlordosis
OMIM:606612	POMT1	10585	HP:0003326	Myalgia
OMIM:606612	POMT1	10585	HP:0003724	Shoulder girdle muscle atrophy
OMIM:606612	POMT1	10585	HP:0002350	Cerebellar cyst
OMIM:606612	POMT1	10585	HP:0010628	Facial palsy
OMIM:606612	POMT1	10585	HP:0002359	Frequent falls
OMIM:606612	POMT1	10585	HP:0002650	Scoliosis
OMIM:606612	POMT1	10585	HP:0003458	EMG: myopathic abnormalities
OMIM:606612	POMT1	10585	HP:0001771	Achilles tendon contracture
OMIM:606612	POMT1	10585	HP:0003741	Congenital muscular dystrophy
OMIM:606612	POMT1	10585	HP:0001302	Pachygyria
OMIM:606612	POMT1	10585	HP:0008981	Calf muscle hypertrophy
OMIM:606612	POMT1	10585	HP:0002119	Ventriculomegaly
OMIM:606612	POMT1	10585	HP:0002808	Kyphosis
OMIM:606612	POMT1	10585	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606612	POMT1	10585	HP:0000158	Macroglossia
OMIM:606612	POMT1	10585	HP:0001249	Intellectual disability
OMIM:606612	POMT1	10585	HP:0001272	Cerebellar atrophy
OMIM:606612	POMT1	10585	HP:0002500	Abnormality of the cerebral white matter
OMIM:606612	POMT1	10585	HP:0003394	Muscle cramps
OMIM:606612	POMT1	10585	HP:0003701	Proximal muscle weakness
OMIM:606612	POMT1	10585	HP:0002194	Delayed gross motor development
OMIM:606612	POMT1	10585	HP:0002355	Difficulty walking
OMIM:606612	POMT1	10585	HP:0003577	Congenital onset
OMIM:606612	POMT1	10585	HP:0002948	Vertebral fusion
OMIM:606612	POMT1	10585	HP:0000252	Microcephaly
OMIM:606612	POMT1	10585	HP:0000007	Autosomal recessive inheritance
OMIM:606612	POMT1	10585	HP:0001319	Neonatal hypotonia
OMIM:606612	POMT1	10585	HP:0003547	Shoulder girdle muscle weakness
OMIM:606612	POMT1	10585	HP:0003828	Variable expressivity
OMIM:606612	POMT1	10585	HP:0008872	Feeding difficulties in infancy
OMIM:606612	POMT1	10585	HP:0003324	Generalized muscle weakness
OMIM:606612	POMT1	10585	HP:0007126	Proximal amyotrophy
OMIM:606612	FKRP	79147	HP:0003307	Hyperlordosis
OMIM:606612	FKRP	79147	HP:0003326	Myalgia
OMIM:606612	FKRP	79147	HP:0003724	Shoulder girdle muscle atrophy
OMIM:606612	FKRP	79147	HP:0002350	Cerebellar cyst
OMIM:606612	FKRP	79147	HP:0010628	Facial palsy
OMIM:606612	FKRP	79147	HP:0002359	Frequent falls
OMIM:606612	FKRP	79147	HP:0002650	Scoliosis
OMIM:606612	FKRP	79147	HP:0003458	EMG: myopathic abnormalities
OMIM:606612	FKRP	79147	HP:0001771	Achilles tendon contracture
OMIM:606612	FKRP	79147	HP:0003741	Congenital muscular dystrophy
OMIM:606612	FKRP	79147	HP:0001302	Pachygyria
OMIM:606612	FKRP	79147	HP:0008981	Calf muscle hypertrophy
OMIM:606612	FKRP	79147	HP:0002119	Ventriculomegaly
OMIM:606612	FKRP	79147	HP:0002808	Kyphosis
OMIM:606612	FKRP	79147	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606612	FKRP	79147	HP:0000158	Macroglossia
OMIM:606612	FKRP	79147	HP:0001249	Intellectual disability
OMIM:606612	FKRP	79147	HP:0001272	Cerebellar atrophy
OMIM:606612	FKRP	79147	HP:0002500	Abnormality of the cerebral white matter
OMIM:606612	FKRP	79147	HP:0003394	Muscle cramps
OMIM:606612	FKRP	79147	HP:0003701	Proximal muscle weakness
OMIM:606612	FKRP	79147	HP:0002194	Delayed gross motor development
OMIM:606612	FKRP	79147	HP:0002355	Difficulty walking
OMIM:606612	FKRP	79147	HP:0003577	Congenital onset
OMIM:606612	FKRP	79147	HP:0002948	Vertebral fusion
OMIM:606612	FKRP	79147	HP:0000252	Microcephaly
OMIM:606612	FKRP	79147	HP:0000007	Autosomal recessive inheritance
OMIM:606612	FKRP	79147	HP:0001319	Neonatal hypotonia
OMIM:606612	FKRP	79147	HP:0003547	Shoulder girdle muscle weakness
OMIM:606612	FKRP	79147	HP:0003828	Variable expressivity
OMIM:606612	FKRP	79147	HP:0008872	Feeding difficulties in infancy
OMIM:606612	FKRP	79147	HP:0003324	Generalized muscle weakness
OMIM:606612	FKRP	79147	HP:0007126	Proximal amyotrophy
OMIM:606612	FKTN	2218	HP:0003307	Hyperlordosis
OMIM:606612	FKTN	2218	HP:0003326	Myalgia
OMIM:606612	FKTN	2218	HP:0003724	Shoulder girdle muscle atrophy
OMIM:606612	FKTN	2218	HP:0002350	Cerebellar cyst
OMIM:606612	FKTN	2218	HP:0010628	Facial palsy
OMIM:606612	FKTN	2218	HP:0002359	Frequent falls
OMIM:606612	FKTN	2218	HP:0002650	Scoliosis
OMIM:606612	FKTN	2218	HP:0003458	EMG: myopathic abnormalities
OMIM:606612	FKTN	2218	HP:0001771	Achilles tendon contracture
OMIM:606612	FKTN	2218	HP:0003741	Congenital muscular dystrophy
OMIM:606612	FKTN	2218	HP:0001302	Pachygyria
OMIM:606612	FKTN	2218	HP:0008981	Calf muscle hypertrophy
OMIM:606612	FKTN	2218	HP:0002119	Ventriculomegaly
OMIM:606612	FKTN	2218	HP:0002808	Kyphosis
OMIM:606612	FKTN	2218	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606612	FKTN	2218	HP:0000158	Macroglossia
OMIM:606612	FKTN	2218	HP:0001249	Intellectual disability
OMIM:606612	FKTN	2218	HP:0001272	Cerebellar atrophy
OMIM:606612	FKTN	2218	HP:0002500	Abnormality of the cerebral white matter
OMIM:606612	FKTN	2218	HP:0003394	Muscle cramps
OMIM:606612	FKTN	2218	HP:0003701	Proximal muscle weakness
OMIM:606612	FKTN	2218	HP:0002194	Delayed gross motor development
OMIM:606612	FKTN	2218	HP:0002355	Difficulty walking
OMIM:606612	FKTN	2218	HP:0003577	Congenital onset
OMIM:606612	FKTN	2218	HP:0002948	Vertebral fusion
OMIM:606612	FKTN	2218	HP:0000252	Microcephaly
OMIM:606612	FKTN	2218	HP:0000007	Autosomal recessive inheritance
OMIM:606612	FKTN	2218	HP:0001319	Neonatal hypotonia
OMIM:606612	FKTN	2218	HP:0003547	Shoulder girdle muscle weakness
OMIM:606612	FKTN	2218	HP:0003828	Variable expressivity
OMIM:606612	FKTN	2218	HP:0008872	Feeding difficulties in infancy
OMIM:606612	FKTN	2218	HP:0003324	Generalized muscle weakness
OMIM:606612	FKTN	2218	HP:0007126	Proximal amyotrophy
OMIM:606612	ISPD	729920	HP:0003307	Hyperlordosis
OMIM:606612	ISPD	729920	HP:0003326	Myalgia
OMIM:606612	ISPD	729920	HP:0003724	Shoulder girdle muscle atrophy
OMIM:606612	ISPD	729920	HP:0002350	Cerebellar cyst
OMIM:606612	ISPD	729920	HP:0010628	Facial palsy
OMIM:606612	ISPD	729920	HP:0002359	Frequent falls
OMIM:606612	ISPD	729920	HP:0002650	Scoliosis
OMIM:606612	ISPD	729920	HP:0003458	EMG: myopathic abnormalities
OMIM:606612	ISPD	729920	HP:0001771	Achilles tendon contracture
OMIM:606612	ISPD	729920	HP:0003741	Congenital muscular dystrophy
OMIM:606612	ISPD	729920	HP:0001302	Pachygyria
OMIM:606612	ISPD	729920	HP:0008981	Calf muscle hypertrophy
OMIM:606612	ISPD	729920	HP:0002119	Ventriculomegaly
OMIM:606612	ISPD	729920	HP:0002808	Kyphosis
OMIM:606612	ISPD	729920	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606612	ISPD	729920	HP:0000158	Macroglossia
OMIM:606612	ISPD	729920	HP:0001249	Intellectual disability
OMIM:606612	ISPD	729920	HP:0001272	Cerebellar atrophy
OMIM:606612	ISPD	729920	HP:0002500	Abnormality of the cerebral white matter
OMIM:606612	ISPD	729920	HP:0003394	Muscle cramps
OMIM:606612	ISPD	729920	HP:0003701	Proximal muscle weakness
OMIM:606612	ISPD	729920	HP:0002194	Delayed gross motor development
OMIM:606612	ISPD	729920	HP:0002355	Difficulty walking
OMIM:606612	ISPD	729920	HP:0003577	Congenital onset
OMIM:606612	ISPD	729920	HP:0002948	Vertebral fusion
OMIM:606612	ISPD	729920	HP:0000252	Microcephaly
OMIM:606612	ISPD	729920	HP:0000007	Autosomal recessive inheritance
OMIM:606612	ISPD	729920	HP:0001319	Neonatal hypotonia
OMIM:606612	ISPD	729920	HP:0003547	Shoulder girdle muscle weakness
OMIM:606612	ISPD	729920	HP:0003828	Variable expressivity
OMIM:606612	ISPD	729920	HP:0008872	Feeding difficulties in infancy
OMIM:606612	ISPD	729920	HP:0003324	Generalized muscle weakness
OMIM:606612	ISPD	729920	HP:0007126	Proximal amyotrophy
OMIM:606612	LARGE	9215	HP:0003307	Hyperlordosis
OMIM:606612	LARGE	9215	HP:0003326	Myalgia
OMIM:606612	LARGE	9215	HP:0003724	Shoulder girdle muscle atrophy
OMIM:606612	LARGE	9215	HP:0002350	Cerebellar cyst
OMIM:606612	LARGE	9215	HP:0010628	Facial palsy
OMIM:606612	LARGE	9215	HP:0002359	Frequent falls
OMIM:606612	LARGE	9215	HP:0002650	Scoliosis
OMIM:606612	LARGE	9215	HP:0003458	EMG: myopathic abnormalities
OMIM:606612	LARGE	9215	HP:0001771	Achilles tendon contracture
OMIM:606612	LARGE	9215	HP:0003741	Congenital muscular dystrophy
OMIM:606612	LARGE	9215	HP:0001302	Pachygyria
OMIM:606612	LARGE	9215	HP:0008981	Calf muscle hypertrophy
OMIM:606612	LARGE	9215	HP:0002119	Ventriculomegaly
OMIM:606612	LARGE	9215	HP:0002808	Kyphosis
OMIM:606612	LARGE	9215	HP:0003236	Elevated serum creatine phosphokinase
OMIM:606612	LARGE	9215	HP:0000158	Macroglossia
OMIM:606612	LARGE	9215	HP:0001249	Intellectual disability
OMIM:606612	LARGE	9215	HP:0001272	Cerebellar atrophy
OMIM:606612	LARGE	9215	HP:0002500	Abnormality of the cerebral white matter
OMIM:606612	LARGE	9215	HP:0003394	Muscle cramps
OMIM:606612	LARGE	9215	HP:0003701	Proximal muscle weakness
OMIM:606612	LARGE	9215	HP:0002194	Delayed gross motor development
OMIM:606612	LARGE	9215	HP:0002355	Difficulty walking
OMIM:606612	LARGE	9215	HP:0003577	Congenital onset
OMIM:606612	LARGE	9215	HP:0002948	Vertebral fusion
OMIM:606612	LARGE	9215	HP:0000252	Microcephaly
OMIM:606612	LARGE	9215	HP:0000007	Autosomal recessive inheritance
OMIM:606612	LARGE	9215	HP:0001319	Neonatal hypotonia
OMIM:606612	LARGE	9215	HP:0003547	Shoulder girdle muscle weakness
OMIM:606612	LARGE	9215	HP:0003828	Variable expressivity
OMIM:606612	LARGE	9215	HP:0008872	Feeding difficulties in infancy
OMIM:606612	LARGE	9215	HP:0003324	Generalized muscle weakness
OMIM:606612	LARGE	9215	HP:0007126	Proximal amyotrophy
OMIM:612438	TUBB4A	10382	HP:0001332	Dystonia
OMIM:612438	TUBB4A	10382	HP:0002465	Poor speech
OMIM:612438	TUBB4A	10382	HP:0000639	Nystagmus
OMIM:612438	TUBB4A	10382	HP:0001250	Seizures
OMIM:612438	TUBB4A	10382	HP:0001337	Tremor
OMIM:612438	TUBB4A	10382	HP:0003828	Variable expressivity
OMIM:612438	TUBB4A	10382	HP:0006808	Cerebral hypomyelination
OMIM:612438	TUBB4A	10382	HP:0003745	Sporadic
OMIM:612438	TUBB4A	10382	HP:0002063	Rigidity
OMIM:612438	TUBB4A	10382	HP:0000505	Visual impairment
OMIM:612438	TUBB4A	10382	HP:0000648	Optic atrophy
OMIM:612438	TUBB4A	10382	HP:0001328	Specific learning disability
OMIM:612438	TUBB4A	10382	HP:0001249	Intellectual disability
OMIM:612438	TUBB4A	10382	HP:0000365	Hearing impairment
OMIM:612438	TUBB4A	10382	HP:0001270	Motor delay
OMIM:612438	TUBB4A	10382	HP:0000750	Delayed speech and language development
OMIM:612438	TUBB4A	10382	HP:0001251	Ataxia
OMIM:612438	TUBB4A	10382	HP:0000007	Autosomal recessive inheritance
OMIM:612438	TUBB4A	10382	HP:0001257	Spasticity
OMIM:612438	TUBB4A	10382	HP:0003676	Progressive
OMIM:612438	TUBB4A	10382	HP:0000252	Microcephaly
OMIM:612438	TUBB4A	10382	HP:0002415	Leukodystrophy
OMIM:612438	TUBB4A	10382	HP:0008936	Muscular hypotonia of the trunk
OMIM:612438	TUBB4A	10382	HP:0001266	Choreoathetosis
OMIM:612438	TUBB4A	10382	HP:0001272	Cerebellar atrophy
OMIM:612438	TUBB4A	10382	HP:0000006	Autosomal dominant inheritance
OMIM:612438	TUBB4A	10382	HP:0001260	Dysarthria
OMIM:612438	TUBB4A	10382	HP:0004322	Short stature
OMIM:613835	AIPL1	23746	HP:0000550	Undetectable electroretinogram
OMIM:613835	AIPL1	23746	HP:0000563	Keratoconus
OMIM:613835	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:613835	AIPL1	23746	HP:0000518	Cataract
OMIM:613835	AIPL1	23746	HP:0012043	Pendular nystagmus
OMIM:613835	AIPL1	23746	HP:0008499	High-grade hypermetropia
OMIM:613835	AIPL1	23746	HP:0000505	Visual impairment
OMIM:613835	NMNAT1	64802	HP:0000550	Undetectable electroretinogram
OMIM:613835	NMNAT1	64802	HP:0000563	Keratoconus
OMIM:613835	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:613835	NMNAT1	64802	HP:0000518	Cataract
OMIM:613835	NMNAT1	64802	HP:0012043	Pendular nystagmus
OMIM:613835	NMNAT1	64802	HP:0008499	High-grade hypermetropia
OMIM:613835	NMNAT1	64802	HP:0000505	Visual impairment
OMIM:613835	SPATA7	55812	HP:0000550	Undetectable electroretinogram
OMIM:613835	SPATA7	55812	HP:0000563	Keratoconus
OMIM:613835	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613835	SPATA7	55812	HP:0000518	Cataract
OMIM:613835	SPATA7	55812	HP:0012043	Pendular nystagmus
OMIM:613835	SPATA7	55812	HP:0008499	High-grade hypermetropia
OMIM:613835	SPATA7	55812	HP:0000505	Visual impairment
OMIM:613835	RDH12	145226	HP:0000550	Undetectable electroretinogram
OMIM:613835	RDH12	145226	HP:0000563	Keratoconus
OMIM:613835	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613835	RDH12	145226	HP:0000518	Cataract
OMIM:613835	RDH12	145226	HP:0012043	Pendular nystagmus
OMIM:613835	RDH12	145226	HP:0008499	High-grade hypermetropia
OMIM:613835	RDH12	145226	HP:0000505	Visual impairment
OMIM:613835	RPGRIP1	57096	HP:0000550	Undetectable electroretinogram
OMIM:613835	RPGRIP1	57096	HP:0000563	Keratoconus
OMIM:613835	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:613835	RPGRIP1	57096	HP:0000518	Cataract
OMIM:613835	RPGRIP1	57096	HP:0012043	Pendular nystagmus
OMIM:613835	RPGRIP1	57096	HP:0008499	High-grade hypermetropia
OMIM:613835	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:613835	RPE65	6121	HP:0000550	Undetectable electroretinogram
OMIM:613835	RPE65	6121	HP:0000563	Keratoconus
OMIM:613835	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613835	RPE65	6121	HP:0000518	Cataract
OMIM:613835	RPE65	6121	HP:0012043	Pendular nystagmus
OMIM:613835	RPE65	6121	HP:0008499	High-grade hypermetropia
OMIM:613835	RPE65	6121	HP:0000505	Visual impairment
OMIM:613835	LCA5	167691	HP:0000550	Undetectable electroretinogram
OMIM:613835	LCA5	167691	HP:0000563	Keratoconus
OMIM:613835	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:613835	LCA5	167691	HP:0000518	Cataract
OMIM:613835	LCA5	167691	HP:0012043	Pendular nystagmus
OMIM:613835	LCA5	167691	HP:0008499	High-grade hypermetropia
OMIM:613835	LCA5	167691	HP:0000505	Visual impairment
OMIM:613835	LRAT	9227	HP:0000550	Undetectable electroretinogram
OMIM:613835	LRAT	9227	HP:0000563	Keratoconus
OMIM:613835	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613835	LRAT	9227	HP:0000518	Cataract
OMIM:613835	LRAT	9227	HP:0012043	Pendular nystagmus
OMIM:613835	LRAT	9227	HP:0008499	High-grade hypermetropia
OMIM:613835	LRAT	9227	HP:0000505	Visual impairment
OMIM:613835	IFT140	9742	HP:0000550	Undetectable electroretinogram
OMIM:613835	IFT140	9742	HP:0000563	Keratoconus
OMIM:613835	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613835	IFT140	9742	HP:0000518	Cataract
OMIM:613835	IFT140	9742	HP:0012043	Pendular nystagmus
OMIM:613835	IFT140	9742	HP:0008499	High-grade hypermetropia
OMIM:613835	IFT140	9742	HP:0000505	Visual impairment
OMIM:613835	TULP1	7287	HP:0000550	Undetectable electroretinogram
OMIM:613835	TULP1	7287	HP:0000563	Keratoconus
OMIM:613835	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613835	TULP1	7287	HP:0000518	Cataract
OMIM:613835	TULP1	7287	HP:0012043	Pendular nystagmus
OMIM:613835	TULP1	7287	HP:0008499	High-grade hypermetropia
OMIM:613835	TULP1	7287	HP:0000505	Visual impairment
OMIM:613835	GUCY2D	3000	HP:0000550	Undetectable electroretinogram
OMIM:613835	GUCY2D	3000	HP:0000563	Keratoconus
OMIM:613835	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:613835	GUCY2D	3000	HP:0000518	Cataract
OMIM:613835	GUCY2D	3000	HP:0012043	Pendular nystagmus
OMIM:613835	GUCY2D	3000	HP:0008499	High-grade hypermetropia
OMIM:613835	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:613835	CEP290	80184	HP:0000550	Undetectable electroretinogram
OMIM:613835	CEP290	80184	HP:0000563	Keratoconus
OMIM:613835	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:613835	CEP290	80184	HP:0000518	Cataract
OMIM:613835	CEP290	80184	HP:0012043	Pendular nystagmus
OMIM:613835	CEP290	80184	HP:0008499	High-grade hypermetropia
OMIM:613835	CEP290	80184	HP:0000505	Visual impairment
OMIM:613835	IQCB1	9657	HP:0000550	Undetectable electroretinogram
OMIM:613835	IQCB1	9657	HP:0000563	Keratoconus
OMIM:613835	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:613835	IQCB1	9657	HP:0000518	Cataract
OMIM:613835	IQCB1	9657	HP:0012043	Pendular nystagmus
OMIM:613835	IQCB1	9657	HP:0008499	High-grade hypermetropia
OMIM:613835	IQCB1	9657	HP:0000505	Visual impairment
OMIM:613835	KCNJ13	3769	HP:0000550	Undetectable electroretinogram
OMIM:613835	KCNJ13	3769	HP:0000563	Keratoconus
OMIM:613835	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:613835	KCNJ13	3769	HP:0000518	Cataract
OMIM:613835	KCNJ13	3769	HP:0012043	Pendular nystagmus
OMIM:613835	KCNJ13	3769	HP:0008499	High-grade hypermetropia
OMIM:613835	KCNJ13	3769	HP:0000505	Visual impairment
OMIM:613835	CRB1	23418	HP:0000550	Undetectable electroretinogram
OMIM:613835	CRB1	23418	HP:0000563	Keratoconus
OMIM:613835	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613835	CRB1	23418	HP:0000518	Cataract
OMIM:613835	CRB1	23418	HP:0012043	Pendular nystagmus
OMIM:613835	CRB1	23418	HP:0008499	High-grade hypermetropia
OMIM:613835	CRB1	23418	HP:0000505	Visual impairment
OMIM:613835	GDF6	392255	HP:0000550	Undetectable electroretinogram
OMIM:613835	GDF6	392255	HP:0000563	Keratoconus
OMIM:613835	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:613835	GDF6	392255	HP:0000518	Cataract
OMIM:613835	GDF6	392255	HP:0012043	Pendular nystagmus
OMIM:613835	GDF6	392255	HP:0008499	High-grade hypermetropia
OMIM:613835	GDF6	392255	HP:0000505	Visual impairment
OMIM:613835	RD3	343035	HP:0000550	Undetectable electroretinogram
OMIM:613835	RD3	343035	HP:0000563	Keratoconus
OMIM:613835	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:613835	RD3	343035	HP:0000518	Cataract
OMIM:613835	RD3	343035	HP:0012043	Pendular nystagmus
OMIM:613835	RD3	343035	HP:0008499	High-grade hypermetropia
OMIM:613835	RD3	343035	HP:0000505	Visual impairment
OMIM:613835	CRX	1406	HP:0000550	Undetectable electroretinogram
OMIM:613835	CRX	1406	HP:0000563	Keratoconus
OMIM:613835	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613835	CRX	1406	HP:0000518	Cataract
OMIM:613835	CRX	1406	HP:0012043	Pendular nystagmus
OMIM:613835	CRX	1406	HP:0008499	High-grade hypermetropia
OMIM:613835	CRX	1406	HP:0000505	Visual impairment
OMIM:613835	IMPDH1	3614	HP:0000550	Undetectable electroretinogram
OMIM:613835	IMPDH1	3614	HP:0000563	Keratoconus
OMIM:613835	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613835	IMPDH1	3614	HP:0000518	Cataract
OMIM:613835	IMPDH1	3614	HP:0012043	Pendular nystagmus
OMIM:613835	IMPDH1	3614	HP:0008499	High-grade hypermetropia
OMIM:613835	IMPDH1	3614	HP:0000505	Visual impairment
OMIM:115310	SDHA	6389	HP:0003829	Incomplete penetrance
OMIM:115310	SDHA	6389	HP:0003006	Neuroblastoma
OMIM:115310	SDHA	6389	HP:0100723	Gastrointestinal stroma tumor
OMIM:115310	SDHA	6389	HP:0001962	Palpitations
OMIM:115310	SDHA	6389	HP:0003581	Adult onset
OMIM:115310	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:115310	SDHAF2	54949	HP:0003829	Incomplete penetrance
OMIM:115310	SDHAF2	54949	HP:0003006	Neuroblastoma
OMIM:115310	SDHAF2	54949	HP:0100723	Gastrointestinal stroma tumor
OMIM:115310	SDHAF2	54949	HP:0001962	Palpitations
OMIM:115310	SDHAF2	54949	HP:0003581	Adult onset
OMIM:115310	SDHAF2	54949	HP:0000006	Autosomal dominant inheritance
OMIM:115310	MAX	4149	HP:0003829	Incomplete penetrance
OMIM:115310	MAX	4149	HP:0003006	Neuroblastoma
OMIM:115310	MAX	4149	HP:0100723	Gastrointestinal stroma tumor
OMIM:115310	MAX	4149	HP:0001962	Palpitations
OMIM:115310	MAX	4149	HP:0003581	Adult onset
OMIM:115310	MAX	4149	HP:0000006	Autosomal dominant inheritance
OMIM:115310	SDHB	6390	HP:0003829	Incomplete penetrance
OMIM:115310	SDHB	6390	HP:0003006	Neuroblastoma
OMIM:115310	SDHB	6390	HP:0100723	Gastrointestinal stroma tumor
OMIM:115310	SDHB	6390	HP:0001962	Palpitations
OMIM:115310	SDHB	6390	HP:0003581	Adult onset
OMIM:115310	SDHB	6390	HP:0000006	Autosomal dominant inheritance
OMIM:115310	TMEM127	55654	HP:0003829	Incomplete penetrance
OMIM:115310	TMEM127	55654	HP:0003006	Neuroblastoma
OMIM:115310	TMEM127	55654	HP:0100723	Gastrointestinal stroma tumor
OMIM:115310	TMEM127	55654	HP:0001962	Palpitations
OMIM:115310	TMEM127	55654	HP:0003581	Adult onset
OMIM:115310	TMEM127	55654	HP:0000006	Autosomal dominant inheritance
OMIM:115310	SDHC	6391	HP:0003829	Incomplete penetrance
OMIM:115310	SDHC	6391	HP:0003006	Neuroblastoma
OMIM:115310	SDHC	6391	HP:0100723	Gastrointestinal stroma tumor
OMIM:115310	SDHC	6391	HP:0001962	Palpitations
OMIM:115310	SDHC	6391	HP:0003581	Adult onset
OMIM:115310	SDHC	6391	HP:0000006	Autosomal dominant inheritance
OMIM:115310	SDHD	6392	HP:0003829	Incomplete penetrance
OMIM:115310	SDHD	6392	HP:0003006	Neuroblastoma
OMIM:115310	SDHD	6392	HP:0100723	Gastrointestinal stroma tumor
OMIM:115310	SDHD	6392	HP:0001962	Palpitations
OMIM:115310	SDHD	6392	HP:0003581	Adult onset
OMIM:115310	SDHD	6392	HP:0000006	Autosomal dominant inheritance
OMIM:115310	RET	5979	HP:0003829	Incomplete penetrance
OMIM:115310	RET	5979	HP:0003006	Neuroblastoma
OMIM:115310	RET	5979	HP:0100723	Gastrointestinal stroma tumor
OMIM:115310	RET	5979	HP:0001962	Palpitations
OMIM:115310	RET	5979	HP:0003581	Adult onset
OMIM:115310	RET	5979	HP:0000006	Autosomal dominant inheritance
OMIM:115310	FH	2271	HP:0003829	Incomplete penetrance
OMIM:115310	FH	2271	HP:0003006	Neuroblastoma
OMIM:115310	FH	2271	HP:0100723	Gastrointestinal stroma tumor
OMIM:115310	FH	2271	HP:0001962	Palpitations
OMIM:115310	FH	2271	HP:0003581	Adult onset
OMIM:115310	FH	2271	HP:0000006	Autosomal dominant inheritance
OMIM:610293	PIGM	93183	HP:0001409	Portal hypertension
OMIM:610293	PIGM	93183	HP:0002240	Hepatomegaly
OMIM:610293	PIGM	93183	HP:0000007	Autosomal recessive inheritance
OMIM:610293	PIGM	93183	HP:0001250	Seizures
OMIM:610293	PIGM	93183	HP:0001744	Splenomegaly
OMIM:180700	WNT5A	7474	HP:0000212	Gingival overgrowth
OMIM:180700	WNT5A	7474	HP:0000527	Long eyelashes
OMIM:180700	WNT5A	7474	HP:0000494	Downslanted palpebral fissures
OMIM:180700	WNT5A	7474	HP:0000767	Pectus excavatum
OMIM:180700	WNT5A	7474	HP:0008905	Rhizomelia
OMIM:180700	WNT5A	7474	HP:0000431	Wide nasal bridge
OMIM:180700	WNT5A	7474	HP:0000023	Inguinal hernia
OMIM:180700	WNT5A	7474	HP:0002164	Nail dysplasia
OMIM:180700	WNT5A	7474	HP:0000256	Macrocephaly
OMIM:180700	WNT5A	7474	HP:0000207	Triangular mouth
OMIM:180700	WNT5A	7474	HP:0011304	Broad thumb
OMIM:180700	WNT5A	7474	HP:0000343	Long philtrum
OMIM:180700	WNT5A	7474	HP:0000218	High palate
OMIM:180700	WNT5A	7474	HP:0000202	Oral cleft
OMIM:180700	WNT5A	7474	HP:0000219	Thin upper lip vermilion
OMIM:180700	WNT5A	7474	HP:0001537	Umbilical hernia
OMIM:180700	WNT5A	7474	HP:0005280	Depressed nasal bridge
OMIM:180700	WNT5A	7474	HP:0002750	Delayed skeletal maturation
OMIM:180700	WNT5A	7474	HP:0000075	Renal duplication
OMIM:180700	WNT5A	7474	HP:0000028	Cryptorchidism
OMIM:180700	WNT5A	7474	HP:0012368	Flat face
OMIM:180700	WNT5A	7474	HP:0000347	Micrognathia
OMIM:180700	WNT5A	7474	HP:0001156	Brachydactyly syndrome
OMIM:180700	WNT5A	7474	HP:0011800	Hypoplasia of midface
OMIM:180700	WNT5A	7474	HP:0001263	Global developmental delay
OMIM:180700	WNT5A	7474	HP:0000463	Anteverted nares
OMIM:180700	WNT5A	7474	HP:0000272	Malar flattening
OMIM:180700	WNT5A	7474	HP:0004220	Short middle phalanx of the 5th finger
OMIM:180700	WNT5A	7474	HP:0030084	Clinodactyly
OMIM:180700	WNT5A	7474	HP:0200055	Small hand
OMIM:180700	WNT5A	7474	HP:0001249	Intellectual disability
OMIM:180700	WNT5A	7474	HP:0002007	Frontal bossing
OMIM:180700	WNT5A	7474	HP:0000286	Epicanthus
OMIM:180700	WNT5A	7474	HP:0004279	Short palm
OMIM:180700	WNT5A	7474	HP:0000684	Delayed eruption of teeth
OMIM:180700	WNT5A	7474	HP:0009466	Radial deviation of finger
OMIM:180700	WNT5A	7474	HP:0000158	Macroglossia
OMIM:180700	WNT5A	7474	HP:0004322	Short stature
OMIM:180700	WNT5A	7474	HP:0000369	Low-set ears
OMIM:180700	WNT5A	7474	HP:0000189	Narrow palate
OMIM:180700	WNT5A	7474	HP:0000316	Hypertelorism
OMIM:180700	WNT5A	7474	HP:0003196	Short nose
OMIM:180700	WNT5A	7474	HP:0000126	Hydronephrosis
OMIM:180700	WNT5A	7474	HP:0000678	Dental crowding
OMIM:180700	WNT5A	7474	HP:0000006	Autosomal dominant inheritance
OMIM:180700	WNT5A	7474	HP:0000470	Short neck
OMIM:180700	WNT5A	7474	HP:0000520	Proptosis
OMIM:180700	WNT5A	7474	HP:0001837	Broad toe
OMIM:180700	WNT5A	7474	HP:0000582	Upslanted palpebral fissure
OMIM:180700	WNT5A	7474	HP:0000278	Retrognathia
OMIM:180700	WNT5A	7474	HP:0002714	Downturned corners of mouth
OMIM:180700	WNT5A	7474	HP:0000054	Micropenis
OMIM:180700	WNT5A	7474	HP:0000358	Posteriorly rotated ears
OMIM:180700	DVL1	1855	HP:0000212	Gingival overgrowth
OMIM:180700	DVL1	1855	HP:0000527	Long eyelashes
OMIM:180700	DVL1	1855	HP:0000494	Downslanted palpebral fissures
OMIM:180700	DVL1	1855	HP:0000767	Pectus excavatum
OMIM:180700	DVL1	1855	HP:0008905	Rhizomelia
OMIM:180700	DVL1	1855	HP:0000431	Wide nasal bridge
OMIM:180700	DVL1	1855	HP:0000023	Inguinal hernia
OMIM:180700	DVL1	1855	HP:0002164	Nail dysplasia
OMIM:180700	DVL1	1855	HP:0000256	Macrocephaly
OMIM:180700	DVL1	1855	HP:0000207	Triangular mouth
OMIM:180700	DVL1	1855	HP:0011304	Broad thumb
OMIM:180700	DVL1	1855	HP:0000343	Long philtrum
OMIM:180700	DVL1	1855	HP:0000218	High palate
OMIM:180700	DVL1	1855	HP:0000202	Oral cleft
OMIM:180700	DVL1	1855	HP:0000219	Thin upper lip vermilion
OMIM:180700	DVL1	1855	HP:0001537	Umbilical hernia
OMIM:180700	DVL1	1855	HP:0005280	Depressed nasal bridge
OMIM:180700	DVL1	1855	HP:0002750	Delayed skeletal maturation
OMIM:180700	DVL1	1855	HP:0000075	Renal duplication
OMIM:180700	DVL1	1855	HP:0000028	Cryptorchidism
OMIM:180700	DVL1	1855	HP:0012368	Flat face
OMIM:180700	DVL1	1855	HP:0000347	Micrognathia
OMIM:180700	DVL1	1855	HP:0001156	Brachydactyly syndrome
OMIM:180700	DVL1	1855	HP:0011800	Hypoplasia of midface
OMIM:180700	DVL1	1855	HP:0001263	Global developmental delay
OMIM:180700	DVL1	1855	HP:0000463	Anteverted nares
OMIM:180700	DVL1	1855	HP:0000272	Malar flattening
OMIM:180700	DVL1	1855	HP:0004220	Short middle phalanx of the 5th finger
OMIM:180700	DVL1	1855	HP:0030084	Clinodactyly
OMIM:180700	DVL1	1855	HP:0200055	Small hand
OMIM:180700	DVL1	1855	HP:0001249	Intellectual disability
OMIM:180700	DVL1	1855	HP:0002007	Frontal bossing
OMIM:180700	DVL1	1855	HP:0000286	Epicanthus
OMIM:180700	DVL1	1855	HP:0004279	Short palm
OMIM:180700	DVL1	1855	HP:0000684	Delayed eruption of teeth
OMIM:180700	DVL1	1855	HP:0009466	Radial deviation of finger
OMIM:180700	DVL1	1855	HP:0000158	Macroglossia
OMIM:180700	DVL1	1855	HP:0004322	Short stature
OMIM:180700	DVL1	1855	HP:0000369	Low-set ears
OMIM:180700	DVL1	1855	HP:0000189	Narrow palate
OMIM:180700	DVL1	1855	HP:0000316	Hypertelorism
OMIM:180700	DVL1	1855	HP:0003196	Short nose
OMIM:180700	DVL1	1855	HP:0000126	Hydronephrosis
OMIM:180700	DVL1	1855	HP:0000678	Dental crowding
OMIM:180700	DVL1	1855	HP:0000006	Autosomal dominant inheritance
OMIM:180700	DVL1	1855	HP:0000470	Short neck
OMIM:180700	DVL1	1855	HP:0000520	Proptosis
OMIM:180700	DVL1	1855	HP:0001837	Broad toe
OMIM:180700	DVL1	1855	HP:0000582	Upslanted palpebral fissure
OMIM:180700	DVL1	1855	HP:0000278	Retrognathia
OMIM:180700	DVL1	1855	HP:0002714	Downturned corners of mouth
OMIM:180700	DVL1	1855	HP:0000054	Micropenis
OMIM:180700	DVL1	1855	HP:0000358	Posteriorly rotated ears
OMIM:300813	SSX1	6756	HP:0001428	Somatic mutation
OMIM:300813	SSX2	6757	HP:0001428	Somatic mutation
OMIM:300813	SS18	6760	HP:0001428	Somatic mutation
OMIM:606952	TYR	7299	HP:0005599	Hypopigmentation of hair
OMIM:606952	TYR	7299	HP:0000639	Nystagmus
OMIM:606952	TYR	7299	HP:0001480	Freckling
OMIM:606952	TYR	7299	HP:0000505	Visual impairment
OMIM:606952	TYR	7299	HP:0000613	Photophobia
OMIM:606952	TYR	7299	HP:0008069	Neoplasm of the skin
OMIM:606952	TYR	7299	HP:0001072	Thickened skin
OMIM:606952	TYR	7299	HP:0000648	Optic atrophy
OMIM:606952	TYR	7299	HP:0000007	Autosomal recessive inheritance
OMIM:606952	TYR	7299	HP:0000995	Melanocytic nevus
OMIM:606952	TYR	7299	HP:0000486	Strabismus
OMIM:606952	TYR	7299	HP:0007894	Hypopigmentation of the fundus
OMIM:606952	TYR	7299	HP:0001107	Ocular albinism
OMIM:606952	TYR	7299	HP:0007513	Generalized hypopigmentation
OMIM:606952	TYR	7299	HP:0001103	Abnormality of the macula
OMIM:606952	TYR	7299	HP:0001022	Albinism
OMIM:614707	SLC52A2	79581	HP:0000007	Autosomal recessive inheritance
OMIM:614707	SLC52A2	79581	HP:0001992	Organic aciduria
OMIM:614707	SLC52A2	79581	HP:0001283	Bulbar palsy
OMIM:614707	SLC52A2	79581	HP:0000648	Optic atrophy
OMIM:614707	SLC52A2	79581	HP:0000407	Sensorineural hearing impairment
OMIM:614707	SLC52A2	79581	HP:0001284	Areflexia
OMIM:614707	SLC52A2	79581	HP:0010628	Facial palsy
OMIM:614707	SLC52A2	79581	HP:0000639	Nystagmus
OMIM:614707	SLC52A2	79581	HP:0000572	Visual loss
OMIM:614707	SLC52A2	79581	HP:0001308	Tongue fasciculations
OMIM:614707	SLC52A2	79581	HP:0001171	Split hand
OMIM:614707	SLC52A2	79581	HP:0002751	Kyphoscoliosis
OMIM:614707	SLC52A2	79581	HP:0002015	Dysphagia
OMIM:614707	SLC52A2	79581	HP:0003676	Progressive
OMIM:614707	SLC52A2	79581	HP:0000718	Aggressive behavior
OMIM:614707	SLC52A2	79581	HP:0001251	Ataxia
OMIM:614707	SLC52A2	79581	HP:0002093	Respiratory insufficiency
OMIM:614707	SLC52A2	79581	HP:0000467	Neck muscle weakness
OMIM:614707	SLC52A2	79581	HP:0001252	Muscular hypotonia
OMIM:614707	SLC52A2	79581	HP:0003828	Variable expressivity
OMIM:614707	SLC52A3	113278	HP:0000007	Autosomal recessive inheritance
OMIM:614707	SLC52A3	113278	HP:0001992	Organic aciduria
OMIM:614707	SLC52A3	113278	HP:0001283	Bulbar palsy
OMIM:614707	SLC52A3	113278	HP:0000648	Optic atrophy
OMIM:614707	SLC52A3	113278	HP:0000407	Sensorineural hearing impairment
OMIM:614707	SLC52A3	113278	HP:0001284	Areflexia
OMIM:614707	SLC52A3	113278	HP:0010628	Facial palsy
OMIM:614707	SLC52A3	113278	HP:0000639	Nystagmus
OMIM:614707	SLC52A3	113278	HP:0000572	Visual loss
OMIM:614707	SLC52A3	113278	HP:0001308	Tongue fasciculations
OMIM:614707	SLC52A3	113278	HP:0001171	Split hand
OMIM:614707	SLC52A3	113278	HP:0002751	Kyphoscoliosis
OMIM:614707	SLC52A3	113278	HP:0002015	Dysphagia
OMIM:614707	SLC52A3	113278	HP:0003676	Progressive
OMIM:614707	SLC52A3	113278	HP:0000718	Aggressive behavior
OMIM:614707	SLC52A3	113278	HP:0001251	Ataxia
OMIM:614707	SLC52A3	113278	HP:0002093	Respiratory insufficiency
OMIM:614707	SLC52A3	113278	HP:0000467	Neck muscle weakness
OMIM:614707	SLC52A3	113278	HP:0001252	Muscular hypotonia
OMIM:614707	SLC52A3	113278	HP:0003828	Variable expressivity
OMIM:270800	CYP7B1	9420	HP:0003676	Progressive
OMIM:270800	CYP7B1	9420	HP:0010550	Paraplegia
OMIM:270800	CYP7B1	9420	HP:0000020	Urinary incontinence
OMIM:270800	CYP7B1	9420	HP:0003487	Babinski sign
OMIM:270800	CYP7B1	9420	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:270800	CYP7B1	9420	HP:0001258	Spastic paraplegia
OMIM:270800	CYP7B1	9420	HP:0001761	Pes cavus
OMIM:270800	CYP7B1	9420	HP:0000007	Autosomal recessive inheritance
OMIM:270800	CYP7B1	9420	HP:0000648	Optic atrophy
OMIM:270800	CYP7B1	9420	HP:0007340	Lower limb muscle weakness
OMIM:270800	CYP7B1	9420	HP:0002064	Spastic gait
OMIM:270800	CYP7B1	9420	HP:0001317	Abnormality of the cerebellum
OMIM:270800	CYP7B1	9420	HP:0001260	Dysarthria
OMIM:270800	CYP7B1	9420	HP:0001347	Hyperreflexia
OMIM:203700	POLG	5428	HP:0000478	Abnormality of the eye
OMIM:203700	POLG	5428	HP:0001251	Ataxia
OMIM:203700	POLG	5428	HP:0002910	Elevated hepatic transaminases
OMIM:203700	POLG	5428	HP:0000007	Autosomal recessive inheritance
OMIM:203700	POLG	5428	HP:0000252	Microcephaly
OMIM:203700	POLG	5428	HP:0001336	Myoclonus
OMIM:203700	POLG	5428	HP:0001252	Muscular hypotonia
OMIM:203700	POLG	5428	HP:0002529	Neuronal loss in central nervous system
OMIM:203700	POLG	5428	HP:0001276	Hypertonia
OMIM:203700	POLG	5428	HP:0002171	Gliosis
OMIM:203700	POLG	5428	HP:0003470	Paralysis
OMIM:203700	POLG	5428	HP:0004374	Hemiplegia/hemiparesis
OMIM:203700	POLG	5428	HP:0002013	Vomiting
OMIM:203700	POLG	5428	HP:0001263	Global developmental delay
OMIM:203700	POLG	5428	HP:0100543	Cognitive impairment
OMIM:203700	POLG	5428	HP:0001399	Hepatic failure
OMIM:203700	POLG	5428	HP:0002376	Developmental regression
OMIM:203700	POLG	5428	HP:0002151	Increased serum lactate
OMIM:203700	POLG	5428	HP:0000572	Visual loss
OMIM:203700	POLG	5428	HP:0001408	Bile duct proliferation
OMIM:203700	POLG	5428	HP:0000649	Abnormality of visual evoked potentials
OMIM:203700	POLG	5428	HP:0001272	Cerebellar atrophy
OMIM:203700	POLG	5428	HP:0002240	Hepatomegaly
OMIM:203700	POLG	5428	HP:0001250	Seizures
OMIM:203700	POLG	5428	HP:0100704	Cortical visual impairment
OMIM:203700	POLG	5428	HP:0003593	Infantile onset
OMIM:203700	POLG	5428	HP:0001508	Failure to thrive
OMIM:203700	POLG	5428	HP:0002922	Increased CSF protein
OMIM:203700	POLG	5428	HP:0100022	Abnormality of movement
OMIM:203700	POLG	5428	HP:0000726	Dementia
OMIM:203700	POLG	5428	HP:0002311	Incoordination
OMIM:203700	POLG	5428	HP:0003678	Rapidly progressive
OMIM:277180	CFTR	1080	HP:0000027	Azoospermia
OMIM:277180	CFTR	1080	HP:0000007	Autosomal recessive inheritance
OMIM:277180	CFTR	1080	HP:0001425	Heterogeneous
OMIM:266140	SPTA1	6708	HP:0001878	Hemolytic anemia
OMIM:266140	SPTA1	6708	HP:0000007	Autosomal recessive inheritance
OMIM:600785	VDR	7421	HP:0002663	Delayed epiphyseal ossification
OMIM:600785	VDR	7421	HP:0003025	Metaphyseal irregularity
OMIM:600785	VDR	7421	HP:0003745	Sporadic
OMIM:600785	VDR	7421	HP:0003165	Elevated circulating parathyroid hormone (PTH) level
OMIM:600785	VDR	7421	HP:0002980	Femoral bowing
OMIM:600785	VDR	7421	HP:0002970	Genu varum
OMIM:600785	VDR	7421	HP:0002857	Genu valgum
OMIM:600785	VDR	7421	HP:0002982	Tibial bowing
OMIM:600785	VDR	7421	HP:0001596	Alopecia
OMIM:600785	VDR	7421	HP:0003593	Infantile onset
OMIM:250460	RMRP	6023	HP:0002970	Genu varum
OMIM:250460	RMRP	6023	HP:0010049	Short metacarpal
OMIM:250460	RMRP	6023	HP:0000007	Autosomal recessive inheritance
OMIM:250460	RMRP	6023	HP:0002983	Micromelia
OMIM:250460	RMRP	6023	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:250460	RMRP	6023	HP:0003025	Metaphyseal irregularity
OMIM:250460	RMRP	6023	HP:0001595	Abnormality of the hair
OMIM:250460	RMRP	6023	HP:0000925	Abnormality of the vertebral column
OMIM:250460	RMRP	6023	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
OMIM:250460	RMRP	6023	HP:0003510	Severe short stature
OMIM:250460	RMRP	6023	HP:0001388	Joint laxity
OMIM:250460	RMRP	6023	HP:0002715	Abnormality of the immune system
OMIM:250460	RMRP	6023	HP:0100255	Metaphyseal dysplasia
OMIM:250460	RMRP	6023	HP:0003026	Short long bone
OMIM:600852	RLBP1	6017	HP:0000006	Autosomal dominant inheritance
OMIM:600852	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:600852	SPATA7	55812	HP:0000006	Autosomal dominant inheritance
OMIM:600852	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:600852	ARL6	84100	HP:0000006	Autosomal dominant inheritance
OMIM:600852	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:600852	CERKL	375298	HP:0000006	Autosomal dominant inheritance
OMIM:600852	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:600852	PRPF31	26121	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:600852	TTC8	123016	HP:0000006	Autosomal dominant inheritance
OMIM:600852	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:600852	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:600852	LRAT	9227	HP:0000006	Autosomal dominant inheritance
OMIM:600852	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:600852	IFT140	9742	HP:0000006	Autosomal dominant inheritance
OMIM:600852	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:600852	BEST1	7439	HP:0000006	Autosomal dominant inheritance
OMIM:600852	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:600852	NEK2	4751	HP:0000006	Autosomal dominant inheritance
OMIM:600852	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:600852	ARL2BP	23568	HP:0000006	Autosomal dominant inheritance
OMIM:600852	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:600852	NR2E3	10002	HP:0000006	Autosomal dominant inheritance
OMIM:600852	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:600852	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:600852	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:600852	MAK	4117	HP:0000006	Autosomal dominant inheritance
OMIM:600852	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:600852	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:600852	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:600852	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:600852	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:600852	PDE6A	5145	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:600852	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:600852	IMPDH1	3614	HP:0000006	Autosomal dominant inheritance
OMIM:600852	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:600852	OFD1	8481	HP:0000006	Autosomal dominant inheritance
OMIM:600852	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:600852	GUCA1B	2979	HP:0000006	Autosomal dominant inheritance
OMIM:600852	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:600852	NRL	4901	HP:0000006	Autosomal dominant inheritance
OMIM:600852	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:600852	PDE6B	5158	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:600852	KLHL7	55975	HP:0000006	Autosomal dominant inheritance
OMIM:600852	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:600852	PRPF4	9128	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:600852	PRPF3	9129	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:600852	FAM161A	84140	HP:0000006	Autosomal dominant inheritance
OMIM:600852	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:600852	IFT172	26160	HP:0000006	Autosomal dominant inheritance
OMIM:600852	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:600852	KIZ	55857	HP:0000006	Autosomal dominant inheritance
OMIM:600852	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:600852	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:600852	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:600852	ZNF408	79797	HP:0000006	Autosomal dominant inheritance
OMIM:600852	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:600852	RBP3	5949	HP:0000006	Autosomal dominant inheritance
OMIM:600852	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:600852	HGSNAT	138050	HP:0000006	Autosomal dominant inheritance
OMIM:600852	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:600852	FSCN2	25794	HP:0000006	Autosomal dominant inheritance
OMIM:600852	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:600852	PRCD	768206	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:600852	BBS2	583	HP:0000006	Autosomal dominant inheritance
OMIM:600852	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:600852	RDH12	145226	HP:0000006	Autosomal dominant inheritance
OMIM:600852	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:600852	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:600852	DHDDS	79947	HP:0000006	Autosomal dominant inheritance
OMIM:600852	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:600852	ROM1	6094	HP:0000006	Autosomal dominant inheritance
OMIM:600852	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:600852	C2ORF71	388939	HP:0000006	Autosomal dominant inheritance
OMIM:600852	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:600852	RP9	6100	HP:0000006	Autosomal dominant inheritance
OMIM:600852	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:600852	PRPF6	24148	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:600852	RP1	6101	HP:0000006	Autosomal dominant inheritance
OMIM:600852	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:600852	RP2	6102	HP:0000006	Autosomal dominant inheritance
OMIM:600852	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:600852	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:600852	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:600852	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:600852	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:600852	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:600852	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:600852	IDH3B	3420	HP:0000006	Autosomal dominant inheritance
OMIM:600852	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:600852	MERTK	10461	HP:0000006	Autosomal dominant inheritance
OMIM:600852	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:600852	PRPF8	10594	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:600852	TOPORS	10210	HP:0000006	Autosomal dominant inheritance
OMIM:600852	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:600852	USH2A	7399	HP:0000006	Autosomal dominant inheritance
OMIM:600852	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:600852	RPE65	6121	HP:0000006	Autosomal dominant inheritance
OMIM:600852	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:600852	CLRN1	7401	HP:0000006	Autosomal dominant inheritance
OMIM:600852	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:600852	CNGB1	1258	HP:0000006	Autosomal dominant inheritance
OMIM:600852	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:600852	RGR	5995	HP:0000006	Autosomal dominant inheritance
OMIM:600852	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:600852	CNGA1	1259	HP:0000006	Autosomal dominant inheritance
OMIM:600852	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:600852	TUB	7275	HP:0000006	Autosomal dominant inheritance
OMIM:600852	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:600852	SNRNP200	23020	HP:0000006	Autosomal dominant inheritance
OMIM:600852	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:600852	SLC7A14	57709	HP:0000006	Autosomal dominant inheritance
OMIM:600852	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:600852	TULP1	7287	HP:0000006	Autosomal dominant inheritance
OMIM:600852	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:600852	CA4	762	HP:0000006	Autosomal dominant inheritance
OMIM:600852	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:600852	RHO	6010	HP:0000006	Autosomal dominant inheritance
OMIM:600852	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:600852	CRB1	23418	HP:0000006	Autosomal dominant inheritance
OMIM:600852	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:600852	IMPG2	50939	HP:0000006	Autosomal dominant inheritance
OMIM:600852	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:600852	ZNF513	130557	HP:0000006	Autosomal dominant inheritance
OMIM:600852	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:600852	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:600852	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:615219	MPDZ	8777	HP:0001250	Seizures
OMIM:615219	MPDZ	8777	HP:0000256	Macrocephaly
OMIM:615219	MPDZ	8777	HP:0009879	Cortical gyral simplification
OMIM:615219	MPDZ	8777	HP:0001249	Intellectual disability
OMIM:615219	MPDZ	8777	HP:0003577	Congenital onset
OMIM:615219	MPDZ	8777	HP:0000007	Autosomal recessive inheritance
OMIM:616053	CCDC88C	440193	HP:0002075	Dysdiadochokinesis
OMIM:616053	CCDC88C	440193	HP:0001260	Dysarthria
OMIM:616053	CCDC88C	440193	HP:0002317	Unsteady gait
OMIM:616053	CCDC88C	440193	HP:0002313	Spastic paraparesis
OMIM:616053	CCDC88C	440193	HP:0001347	Hyperreflexia
OMIM:227310	MCFD2	90411	HP:0000007	Autosomal recessive inheritance
OMIM:227310	MCFD2	90411	HP:0001892	Abnormal bleeding
OMIM:227310	LMAN1	3998	HP:0000007	Autosomal recessive inheritance
OMIM:227310	LMAN1	3998	HP:0001892	Abnormal bleeding
OMIM:612567	IL10	3586	HP:0000007	Autosomal recessive inheritance
OMIM:612567	IL10	3586	HP:0000143	Rectovaginal fistula
OMIM:612567	IL10	3586	HP:0004387	Enterocolitis
OMIM:612567	IL10	3586	HP:0005224	Rectal abscess
OMIM:612567	IL10RA	3587	HP:0000007	Autosomal recessive inheritance
OMIM:612567	IL10RA	3587	HP:0000143	Rectovaginal fistula
OMIM:612567	IL10RA	3587	HP:0004387	Enterocolitis
OMIM:612567	IL10RA	3587	HP:0005224	Rectal abscess
OMIM:612567	IL10RB	3588	HP:0000007	Autosomal recessive inheritance
OMIM:612567	IL10RB	3588	HP:0000143	Rectovaginal fistula
OMIM:612567	IL10RB	3588	HP:0004387	Enterocolitis
OMIM:612567	IL10RB	3588	HP:0005224	Rectal abscess
OMIM:612567	IL21	59067	HP:0000007	Autosomal recessive inheritance
OMIM:612567	IL21	59067	HP:0000143	Rectovaginal fistula
OMIM:612567	IL21	59067	HP:0004387	Enterocolitis
OMIM:612567	IL21	59067	HP:0005224	Rectal abscess
OMIM:151100	BRAF	673	HP:0000407	Sensorineural hearing impairment
OMIM:151100	BRAF	673	HP:0002996	Limited elbow movement
OMIM:151100	BRAF	673	HP:0004409	Hyposmia
OMIM:151100	BRAF	673	HP:0000486	Strabismus
OMIM:151100	BRAF	673	HP:0000465	Webbed neck
OMIM:151100	BRAF	673	HP:0001256	Intellectual disability, mild
OMIM:151100	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
OMIM:151100	BRAF	673	HP:0008724	Hypoplasia of the ovary
OMIM:151100	BRAF	673	HP:0002967	Cubitus valgus
OMIM:151100	BRAF	673	HP:0000122	Unilateral renal agenesis
OMIM:151100	BRAF	673	HP:0000470	Short neck
OMIM:151100	BRAF	673	HP:0000054	Micropenis
OMIM:151100	BRAF	673	HP:0000358	Posteriorly rotated ears
OMIM:151100	BRAF	673	HP:0004322	Short stature
OMIM:151100	BRAF	673	HP:0000175	Cleft palate
OMIM:151100	BRAF	673	HP:0000767	Pectus excavatum
OMIM:151100	BRAF	673	HP:0000369	Low-set ears
OMIM:151100	BRAF	673	HP:0011710	Bundle branch block
OMIM:151100	BRAF	673	HP:0000286	Epicanthus
OMIM:151100	BRAF	673	HP:0000957	Cafe-au-lait spot
OMIM:151100	BRAF	673	HP:0000047	Hypospadias
OMIM:151100	BRAF	673	HP:0001682	Subaortic stenosis
OMIM:151100	BRAF	673	HP:0000006	Autosomal dominant inheritance
OMIM:151100	BRAF	673	HP:0003691	Scapular winging
OMIM:151100	BRAF	673	HP:0000028	Cryptorchidism
OMIM:151100	BRAF	673	HP:0000303	Mandibular prognathia
OMIM:151100	BRAF	673	HP:0000316	Hypertelorism
OMIM:151100	BRAF	673	HP:0002751	Kyphoscoliosis
OMIM:151100	BRAF	673	HP:0000921	Missing ribs
OMIM:151100	BRAF	673	HP:0000325	Triangular face
OMIM:151100	BRAF	673	HP:0000508	Ptosis
OMIM:151100	BRAF	673	HP:0003298	Spina bifida occulta
OMIM:151100	BRAF	673	HP:0000411	Protruding ear
OMIM:151100	BRAF	673	HP:0000768	Pectus carinatum
OMIM:151100	BRAF	673	HP:0001642	Pulmonic stenosis
OMIM:151100	BRAF	673	HP:0000457	Depressed nasal ridge
OMIM:151100	PTPN11	5781	HP:0000407	Sensorineural hearing impairment
OMIM:151100	PTPN11	5781	HP:0002996	Limited elbow movement
OMIM:151100	PTPN11	5781	HP:0004409	Hyposmia
OMIM:151100	PTPN11	5781	HP:0000486	Strabismus
OMIM:151100	PTPN11	5781	HP:0000465	Webbed neck
OMIM:151100	PTPN11	5781	HP:0001256	Intellectual disability, mild
OMIM:151100	PTPN11	5781	HP:0001639	Hypertrophic cardiomyopathy
OMIM:151100	PTPN11	5781	HP:0008724	Hypoplasia of the ovary
OMIM:151100	PTPN11	5781	HP:0002967	Cubitus valgus
OMIM:151100	PTPN11	5781	HP:0000122	Unilateral renal agenesis
OMIM:151100	PTPN11	5781	HP:0000470	Short neck
OMIM:151100	PTPN11	5781	HP:0000054	Micropenis
OMIM:151100	PTPN11	5781	HP:0000358	Posteriorly rotated ears
OMIM:151100	PTPN11	5781	HP:0004322	Short stature
OMIM:151100	PTPN11	5781	HP:0000175	Cleft palate
OMIM:151100	PTPN11	5781	HP:0000767	Pectus excavatum
OMIM:151100	PTPN11	5781	HP:0000369	Low-set ears
OMIM:151100	PTPN11	5781	HP:0011710	Bundle branch block
OMIM:151100	PTPN11	5781	HP:0000286	Epicanthus
OMIM:151100	PTPN11	5781	HP:0000957	Cafe-au-lait spot
OMIM:151100	PTPN11	5781	HP:0000047	Hypospadias
OMIM:151100	PTPN11	5781	HP:0001682	Subaortic stenosis
OMIM:151100	PTPN11	5781	HP:0000006	Autosomal dominant inheritance
OMIM:151100	PTPN11	5781	HP:0003691	Scapular winging
OMIM:151100	PTPN11	5781	HP:0000028	Cryptorchidism
OMIM:151100	PTPN11	5781	HP:0000303	Mandibular prognathia
OMIM:151100	PTPN11	5781	HP:0000316	Hypertelorism
OMIM:151100	PTPN11	5781	HP:0002751	Kyphoscoliosis
OMIM:151100	PTPN11	5781	HP:0000921	Missing ribs
OMIM:151100	PTPN11	5781	HP:0000325	Triangular face
OMIM:151100	PTPN11	5781	HP:0000508	Ptosis
OMIM:151100	PTPN11	5781	HP:0003298	Spina bifida occulta
OMIM:151100	PTPN11	5781	HP:0000411	Protruding ear
OMIM:151100	PTPN11	5781	HP:0000768	Pectus carinatum
OMIM:151100	PTPN11	5781	HP:0001642	Pulmonic stenosis
OMIM:151100	PTPN11	5781	HP:0000457	Depressed nasal ridge
OMIM:151100	RAF1	5894	HP:0000407	Sensorineural hearing impairment
OMIM:151100	RAF1	5894	HP:0002996	Limited elbow movement
OMIM:151100	RAF1	5894	HP:0004409	Hyposmia
OMIM:151100	RAF1	5894	HP:0000486	Strabismus
OMIM:151100	RAF1	5894	HP:0000465	Webbed neck
OMIM:151100	RAF1	5894	HP:0001256	Intellectual disability, mild
OMIM:151100	RAF1	5894	HP:0001639	Hypertrophic cardiomyopathy
OMIM:151100	RAF1	5894	HP:0008724	Hypoplasia of the ovary
OMIM:151100	RAF1	5894	HP:0002967	Cubitus valgus
OMIM:151100	RAF1	5894	HP:0000122	Unilateral renal agenesis
OMIM:151100	RAF1	5894	HP:0000470	Short neck
OMIM:151100	RAF1	5894	HP:0000054	Micropenis
OMIM:151100	RAF1	5894	HP:0000358	Posteriorly rotated ears
OMIM:151100	RAF1	5894	HP:0004322	Short stature
OMIM:151100	RAF1	5894	HP:0000175	Cleft palate
OMIM:151100	RAF1	5894	HP:0000767	Pectus excavatum
OMIM:151100	RAF1	5894	HP:0000369	Low-set ears
OMIM:151100	RAF1	5894	HP:0011710	Bundle branch block
OMIM:151100	RAF1	5894	HP:0000286	Epicanthus
OMIM:151100	RAF1	5894	HP:0000957	Cafe-au-lait spot
OMIM:151100	RAF1	5894	HP:0000047	Hypospadias
OMIM:151100	RAF1	5894	HP:0001682	Subaortic stenosis
OMIM:151100	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:151100	RAF1	5894	HP:0003691	Scapular winging
OMIM:151100	RAF1	5894	HP:0000028	Cryptorchidism
OMIM:151100	RAF1	5894	HP:0000303	Mandibular prognathia
OMIM:151100	RAF1	5894	HP:0000316	Hypertelorism
OMIM:151100	RAF1	5894	HP:0002751	Kyphoscoliosis
OMIM:151100	RAF1	5894	HP:0000921	Missing ribs
OMIM:151100	RAF1	5894	HP:0000325	Triangular face
OMIM:151100	RAF1	5894	HP:0000508	Ptosis
OMIM:151100	RAF1	5894	HP:0003298	Spina bifida occulta
OMIM:151100	RAF1	5894	HP:0000411	Protruding ear
OMIM:151100	RAF1	5894	HP:0000768	Pectus carinatum
OMIM:151100	RAF1	5894	HP:0001642	Pulmonic stenosis
OMIM:151100	RAF1	5894	HP:0000457	Depressed nasal ridge
OMIM:611283	ACAD8	27034	HP:0001644	Dilated cardiomyopathy
OMIM:611283	ACAD8	27034	HP:0001252	Muscular hypotonia
OMIM:611283	ACAD8	27034	HP:0001903	Anemia
OMIM:611283	ACAD8	27034	HP:0000007	Autosomal recessive inheritance
OMIM:308050	NSDHL	50814	HP:0001596	Alopecia
OMIM:308050	NSDHL	50814	HP:0002120	Cerebral cortical atrophy
OMIM:308050	NSDHL	50814	HP:0000773	Short ribs
OMIM:308050	NSDHL	50814	HP:0000147	Polycystic ovaries
OMIM:308050	NSDHL	50814	HP:0001597	Abnormality of the nail
OMIM:308050	NSDHL	50814	HP:0008064	Ichthyosis
OMIM:308050	NSDHL	50814	HP:0001371	Flexion contracture
OMIM:308050	NSDHL	50814	HP:0003465	Elevated 8(9)-cholestenol
OMIM:308050	NSDHL	50814	HP:0009815	Aplasia/hypoplasia of the extremities
OMIM:308050	NSDHL	50814	HP:0001537	Umbilical hernia
OMIM:308050	NSDHL	50814	HP:0100026	Arteriovenous malformation
OMIM:308050	NSDHL	50814	HP:0000834	Abnormality of the adrenal glands
OMIM:308050	NSDHL	50814	HP:0000988	Skin rash
OMIM:308050	NSDHL	50814	HP:0001654	Abnormality of the heart valves
OMIM:308050	NSDHL	50814	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:308050	NSDHL	50814	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:308050	NSDHL	50814	HP:0001291	Abnormality of the cranial nerves
OMIM:308050	NSDHL	50814	HP:0010655	Epiphyseal stippling
OMIM:308050	NSDHL	50814	HP:0000962	Hyperkeratosis
OMIM:308050	NSDHL	50814	HP:0001425	Heterogeneous
OMIM:308050	NSDHL	50814	HP:0000835	Adrenal hypoplasia
OMIM:308050	NSDHL	50814	HP:0000958	Dry skin
OMIM:308050	NSDHL	50814	HP:0001671	Abnormality of the cardiac septa
OMIM:308050	NSDHL	50814	HP:0000365	Hearing impairment
OMIM:308050	NSDHL	50814	HP:0000204	Cleft upper lip
OMIM:308050	NSDHL	50814	HP:0000347	Micrognathia
OMIM:308050	NSDHL	50814	HP:0001511	Intrauterine growth retardation
OMIM:308050	NSDHL	50814	HP:0001629	Ventricular septal defect
OMIM:308050	NSDHL	50814	HP:0008678	Renal hypoplasia/aplasia
OMIM:308050	NSDHL	50814	HP:0003826	Stillbirth
OMIM:308050	NSDHL	50814	HP:0004383	Hypoplastic left heart
OMIM:308050	NSDHL	50814	HP:0000175	Cleft palate
OMIM:308050	NSDHL	50814	HP:0000963	Thin skin
OMIM:308050	NSDHL	50814	HP:0002977	Aplasia/Hypoplasia involving the central nervous system
OMIM:308050	NSDHL	50814	HP:0100555	Asymmetric growth
OMIM:308050	NSDHL	50814	HP:0000820	Abnormality of the thyroid gland
OMIM:308050	NSDHL	50814	HP:0001374	Congenital hip dislocation
OMIM:308050	NSDHL	50814	HP:0000772	Abnormality of the ribs
OMIM:308050	NSDHL	50814	HP:0003462	Elevated 8-dehydrocholesterol
OMIM:308050	NSDHL	50814	HP:0001231	Abnormality of the fingernails
OMIM:308050	NSDHL	50814	HP:0004322	Short stature
OMIM:308050	NSDHL	50814	HP:0002089	Pulmonary hypoplasia
OMIM:308050	NSDHL	50814	HP:0001256	Intellectual disability, mild
OMIM:308050	NSDHL	50814	HP:0000882	Hypoplastic scapulae
OMIM:308050	NSDHL	50814	HP:0001631	Atria septal defect
OMIM:308050	NSDHL	50814	HP:0002808	Kyphosis
OMIM:308050	NSDHL	50814	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:308050	NSDHL	50814	HP:0002650	Scoliosis
OMIM:308050	NSDHL	50814	HP:0100543	Cognitive impairment
OMIM:308050	NSDHL	50814	HP:0001423	X-linked dominant inheritance
OMIM:308050	NSDHL	50814	HP:0005930	Abnormality of epiphysis morphology
OMIM:308050	NSDHL	50814	HP:0004348	Abnormality of bone mineral density
OMIM:308050	NSDHL	50814	HP:0000894	Short clavicles
OMIM:308050	NSDHL	50814	HP:0000912	Sprengel anomaly
OMIM:308050	NSDHL	50814	HP:0000126	Hydronephrosis
OMIM:614213	KIF1A	547	HP:0001263	Global developmental delay
OMIM:614213	KIF1A	547	HP:0003676	Progressive
OMIM:614213	KIF1A	547	HP:0004322	Short stature
OMIM:614213	KIF1A	547	HP:0000007	Autosomal recessive inheritance
OMIM:614213	KIF1A	547	HP:0001284	Areflexia
OMIM:614213	KIF1A	547	HP:0009830	Peripheral neuropathy
OMIM:614213	KIF1A	547	HP:0001265	Hyporeflexia
OMIM:614213	WNK1	65125	HP:0001263	Global developmental delay
OMIM:614213	WNK1	65125	HP:0003676	Progressive
OMIM:614213	WNK1	65125	HP:0004322	Short stature
OMIM:614213	WNK1	65125	HP:0000007	Autosomal recessive inheritance
OMIM:614213	WNK1	65125	HP:0001284	Areflexia
OMIM:614213	WNK1	65125	HP:0009830	Peripheral neuropathy
OMIM:614213	WNK1	65125	HP:0001265	Hyporeflexia
OMIM:614213	SCN9A	6335	HP:0001263	Global developmental delay
OMIM:614213	SCN9A	6335	HP:0003676	Progressive
OMIM:614213	SCN9A	6335	HP:0004322	Short stature
OMIM:614213	SCN9A	6335	HP:0000007	Autosomal recessive inheritance
OMIM:614213	SCN9A	6335	HP:0001284	Areflexia
OMIM:614213	SCN9A	6335	HP:0009830	Peripheral neuropathy
OMIM:614213	SCN9A	6335	HP:0001265	Hyporeflexia
OMIM:614213	FAM134B	54463	HP:0001263	Global developmental delay
OMIM:614213	FAM134B	54463	HP:0003676	Progressive
OMIM:614213	FAM134B	54463	HP:0004322	Short stature
OMIM:614213	FAM134B	54463	HP:0000007	Autosomal recessive inheritance
OMIM:614213	FAM134B	54463	HP:0001284	Areflexia
OMIM:614213	FAM134B	54463	HP:0009830	Peripheral neuropathy
OMIM:614213	FAM134B	54463	HP:0001265	Hyporeflexia
OMIM:254770	CACNB4	785	HP:0002069	Generalized tonic-clonic seizures
OMIM:254770	CACNB4	785	HP:0007000	Morning myoclonic jerks
OMIM:254770	CACNB4	785	HP:0000006	Autosomal dominant inheritance
OMIM:254770	CACNB4	785	HP:0000007	Autosomal recessive inheritance
OMIM:254770	CACNB4	785	HP:0002133	Status epilepticus
OMIM:254770	CACNB4	785	HP:0002121	Absence seizures
OMIM:254770	CACNB4	785	HP:0012001	EEG with generalized polyspikes
OMIM:254770	GABRD	2563	HP:0002069	Generalized tonic-clonic seizures
OMIM:254770	GABRD	2563	HP:0007000	Morning myoclonic jerks
OMIM:254770	GABRD	2563	HP:0000006	Autosomal dominant inheritance
OMIM:254770	GABRD	2563	HP:0000007	Autosomal recessive inheritance
OMIM:254770	GABRD	2563	HP:0002133	Status epilepticus
OMIM:254770	GABRD	2563	HP:0002121	Absence seizures
OMIM:254770	GABRD	2563	HP:0012001	EEG with generalized polyspikes
OMIM:254770	JRK	8629	HP:0002069	Generalized tonic-clonic seizures
OMIM:254770	JRK	8629	HP:0007000	Morning myoclonic jerks
OMIM:254770	JRK	8629	HP:0000006	Autosomal dominant inheritance
OMIM:254770	JRK	8629	HP:0000007	Autosomal recessive inheritance
OMIM:254770	JRK	8629	HP:0002133	Status epilepticus
OMIM:254770	JRK	8629	HP:0002121	Absence seizures
OMIM:254770	JRK	8629	HP:0012001	EEG with generalized polyspikes
OMIM:254770	EFHC1	114327	HP:0002069	Generalized tonic-clonic seizures
OMIM:254770	EFHC1	114327	HP:0007000	Morning myoclonic jerks
OMIM:254770	EFHC1	114327	HP:0000006	Autosomal dominant inheritance
OMIM:254770	EFHC1	114327	HP:0000007	Autosomal recessive inheritance
OMIM:254770	EFHC1	114327	HP:0002133	Status epilepticus
OMIM:254770	EFHC1	114327	HP:0002121	Absence seizures
OMIM:254770	EFHC1	114327	HP:0012001	EEG with generalized polyspikes
OMIM:254770	GABRA1	2554	HP:0002069	Generalized tonic-clonic seizures
OMIM:254770	GABRA1	2554	HP:0007000	Morning myoclonic jerks
OMIM:254770	GABRA1	2554	HP:0000006	Autosomal dominant inheritance
OMIM:254770	GABRA1	2554	HP:0000007	Autosomal recessive inheritance
OMIM:254770	GABRA1	2554	HP:0002133	Status epilepticus
OMIM:254770	GABRA1	2554	HP:0002121	Absence seizures
OMIM:254770	GABRA1	2554	HP:0012001	EEG with generalized polyspikes
OMIM:254770	KCNQ3	3786	HP:0002069	Generalized tonic-clonic seizures
OMIM:254770	KCNQ3	3786	HP:0007000	Morning myoclonic jerks
OMIM:254770	KCNQ3	3786	HP:0000006	Autosomal dominant inheritance
OMIM:254770	KCNQ3	3786	HP:0000007	Autosomal recessive inheritance
OMIM:254770	KCNQ3	3786	HP:0002133	Status epilepticus
OMIM:254770	KCNQ3	3786	HP:0002121	Absence seizures
OMIM:254770	KCNQ3	3786	HP:0012001	EEG with generalized polyspikes
OMIM:254770	CLCN2	1181	HP:0002069	Generalized tonic-clonic seizures
OMIM:254770	CLCN2	1181	HP:0007000	Morning myoclonic jerks
OMIM:254770	CLCN2	1181	HP:0000006	Autosomal dominant inheritance
OMIM:254770	CLCN2	1181	HP:0000007	Autosomal recessive inheritance
OMIM:254770	CLCN2	1181	HP:0002133	Status epilepticus
OMIM:254770	CLCN2	1181	HP:0002121	Absence seizures
OMIM:254770	CLCN2	1181	HP:0012001	EEG with generalized polyspikes
OMIM:612716	SPR	6697	HP:0000252	Microcephaly
OMIM:612716	SPR	6697	HP:0001257	Spasticity
OMIM:612716	SPR	6697	HP:0001250	Seizures
OMIM:612716	SPR	6697	HP:0001251	Ataxia
OMIM:612716	SPR	6697	HP:0001263	Global developmental delay
OMIM:612716	SPR	6697	HP:0001266	Choreoathetosis
OMIM:612716	SPR	6697	HP:0000657	Oculomotor apraxia
OMIM:612716	SPR	6697	HP:0008936	Muscular hypotonia of the trunk
OMIM:612716	SPR	6697	HP:0000006	Autosomal dominant inheritance
OMIM:612716	SPR	6697	HP:0003593	Infantile onset
OMIM:612716	SPR	6697	HP:0000718	Aggressive behavior
OMIM:612716	SPR	6697	HP:0000752	Hyperactivity
OMIM:612716	SPR	6697	HP:0001260	Dysarthria
OMIM:612716	SPR	6697	HP:0001332	Dystonia
OMIM:612716	SPR	6697	HP:0003828	Variable expressivity
OMIM:612716	SPR	6697	HP:0000007	Autosomal recessive inheritance
OMIM:612716	SPR	6697	HP:0001249	Intellectual disability
OMIM:612716	SPR	6697	HP:0001510	Growth delay
OMIM:612716	SPR	6697	HP:0002360	Sleep disturbance
OMIM:612716	SPR	6697	HP:0001337	Tremor
OMIM:136630	DIP2B	57609	HP:0001249	Intellectual disability
ORPHANET:158673	COL7A1	1294	HP:0001597	Abnormality of the nail
ORPHANET:158673	COL7A1	1294	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:614822	SLC26A8	116369	HP:0000006	Autosomal dominant inheritance
OMIM:614822	SLC26A8	116369	HP:0000789	Infertility
OMIM:614822	SLC26A8	116369	HP:0012864	Abnormal sperm morphology
OMIM:614822	SEPT12	124404	HP:0000006	Autosomal dominant inheritance
OMIM:614822	SEPT12	124404	HP:0000789	Infertility
OMIM:614822	SEPT12	124404	HP:0012864	Abnormal sperm morphology
OMIM:614822	CATSPER1	117144	HP:0000006	Autosomal dominant inheritance
OMIM:614822	CATSPER1	117144	HP:0000789	Infertility
OMIM:614822	CATSPER1	117144	HP:0012864	Abnormal sperm morphology
OMIM:614822	DNAH1	25981	HP:0000006	Autosomal dominant inheritance
OMIM:614822	DNAH1	25981	HP:0000789	Infertility
OMIM:614822	DNAH1	25981	HP:0012864	Abnormal sperm morphology
OMIM:300815	MECP2	4204	HP:0004299	Hernia of the abdominal wall
OMIM:300815	MECP2	4204	HP:0002167	Neurological speech impairment
OMIM:300815	MECP2	4204	HP:0002750	Delayed skeletal maturation
OMIM:300815	MECP2	4204	HP:0100543	Cognitive impairment
OMIM:300815	MECP2	4204	HP:0002916	Abnormality of chromosome segregation
OMIM:300815	MECP2	4204	HP:0000508	Ptosis
OMIM:300815	MECP2	4204	HP:0000581	Blepharophimosis
OMIM:300815	MECP2	4204	HP:0001288	Gait disturbance
OMIM:300815	MECP2	4204	HP:0004322	Short stature
OMIM:300815	MECP2	4204	HP:0000028	Cryptorchidism
OMIM:300815	MECP2	4204	HP:0001376	Limitation of joint mobility
OMIM:300815	MECP2	4204	HP:0000286	Epicanthus
OMIM:300815	MECP2	4204	HP:0010804	Tented upper lip vermilion
OMIM:300815	MECP2	4204	HP:0000232	Everted lower lip vermilion
OMIM:300815	MECP2	4204	HP:0000767	Pectus excavatum
OMIM:600737	GNE	10020	HP:0001288	Gait disturbance
OMIM:600737	GNE	10020	HP:0003581	Adult onset
OMIM:600737	GNE	10020	HP:0003325	Limb-girdle muscle weakness
OMIM:600737	GNE	10020	HP:0003701	Proximal muscle weakness
OMIM:600737	GNE	10020	HP:0003693	Distal amyotrophy
OMIM:600737	GNE	10020	HP:0003797	Limb-girdle muscle atrophy
OMIM:600737	GNE	10020	HP:0003805	Rimmed vacuoles
OMIM:600737	GNE	10020	HP:0003236	Elevated serum creatine phosphokinase
OMIM:600737	GNE	10020	HP:0000007	Autosomal recessive inheritance
OMIM:600737	GNE	10020	HP:0003458	EMG: myopathic abnormalities
OMIM:616199	GYG1	2992	HP:0002460	Distal muscle weakness
OMIM:616199	GYG1	2992	HP:0003202	Skeletal muscle atrophy
OMIM:615217	SETX	23064	HP:0000657	Oculomotor apraxia
OMIM:615217	SETX	23064	HP:0002359	Frequent falls
OMIM:615217	SETX	23064	HP:0003676	Progressive
OMIM:615217	SETX	23064	HP:0001265	Hyporeflexia
OMIM:615217	SETX	23064	HP:0001310	Dysmetria
OMIM:615217	SETX	23064	HP:0001260	Dysarthria
OMIM:615217	SETX	23064	HP:0001272	Cerebellar atrophy
OMIM:615217	SETX	23064	HP:0001284	Areflexia
OMIM:615217	SETX	23064	HP:0000007	Autosomal recessive inheritance
OMIM:615217	SETX	23064	HP:0000639	Nystagmus
OMIM:615217	PIK3R5	23533	HP:0000657	Oculomotor apraxia
OMIM:615217	PIK3R5	23533	HP:0002359	Frequent falls
OMIM:615217	PIK3R5	23533	HP:0003676	Progressive
OMIM:615217	PIK3R5	23533	HP:0001265	Hyporeflexia
OMIM:615217	PIK3R5	23533	HP:0001310	Dysmetria
OMIM:615217	PIK3R5	23533	HP:0001260	Dysarthria
OMIM:615217	PIK3R5	23533	HP:0001272	Cerebellar atrophy
OMIM:615217	PIK3R5	23533	HP:0001284	Areflexia
OMIM:615217	PIK3R5	23533	HP:0000007	Autosomal recessive inheritance
OMIM:615217	PIK3R5	23533	HP:0000639	Nystagmus
OMIM:615629	DIAPH1	1729	HP:0000365	Hearing impairment
OMIM:615629	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:615629	CEACAM16	388551	HP:0000365	Hearing impairment
OMIM:615629	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:615629	SLC17A8	246213	HP:0000365	Hearing impairment
OMIM:615629	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:615629	TJP2	9414	HP:0000365	Hearing impairment
OMIM:615629	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:615629	ACTG1	71	HP:0000365	Hearing impairment
OMIM:615629	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:615629	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:615629	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:615629	MIR96	407053	HP:0000365	Hearing impairment
OMIM:615629	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:615629	GJB2	2706	HP:0000365	Hearing impairment
OMIM:615629	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:615629	POU4F3	5459	HP:0000365	Hearing impairment
OMIM:615629	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:615629	GJB3	2707	HP:0000365	Hearing impairment
OMIM:615629	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:615629	MYH9	4627	HP:0000365	Hearing impairment
OMIM:615629	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:615629	CRYM	1428	HP:0000365	Hearing impairment
OMIM:615629	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:615629	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:615629	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:615629	EYA4	2070	HP:0000365	Hearing impairment
OMIM:615629	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:615629	DFNA5	1687	HP:0000365	Hearing impairment
OMIM:615629	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:615629	DIAPH3	81624	HP:0000365	Hearing impairment
OMIM:615629	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:615629	TMC1	117531	HP:0000365	Hearing impairment
OMIM:615629	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:615629	COCH	1690	HP:0000365	Hearing impairment
OMIM:615629	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:615629	OSBPL2	9885	HP:0000365	Hearing impairment
OMIM:615629	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:615629	SIX1	6495	HP:0000365	Hearing impairment
OMIM:615629	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:615629	TECTA	7007	HP:0000365	Hearing impairment
OMIM:615629	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:615629	MYO1A	4640	HP:0000365	Hearing impairment
OMIM:615629	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:615629	MYO1C	4641	HP:0000365	Hearing impairment
OMIM:615629	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:615629	MYO6	4646	HP:0000365	Hearing impairment
OMIM:615629	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:615629	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:615629	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:615629	GRHL2	79977	HP:0000365	Hearing impairment
OMIM:615629	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:615629	DIABLO	56616	HP:0000365	Hearing impairment
OMIM:615629	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:615629	MYH14	79784	HP:0000365	Hearing impairment
OMIM:615629	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:615629	P2RX2	22953	HP:0000365	Hearing impairment
OMIM:615629	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:615629	WFS1	7466	HP:0000365	Hearing impairment
OMIM:615629	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:615629	TNC	3371	HP:0000365	Hearing impairment
OMIM:615629	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:615629	KCNQ4	9132	HP:0000365	Hearing impairment
OMIM:615629	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:615629	HOMER2	9455	HP:0000365	Hearing impairment
OMIM:615629	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:615629	GJB6	10804	HP:0000365	Hearing impairment
OMIM:615629	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:615629	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:615629	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:606003	TALDO1	6888	HP:0005280	Depressed nasal bridge
OMIM:606003	TALDO1	6888	HP:0001655	Patent foramen ovale
OMIM:606003	TALDO1	6888	HP:0000057	Clitoromegaly
OMIM:606003	TALDO1	6888	HP:0001395	Hepatic fibrosis
OMIM:606003	TALDO1	6888	HP:0002033	Poor suck
OMIM:606003	TALDO1	6888	HP:0001680	Coarctation of aorta
OMIM:606003	TALDO1	6888	HP:0002099	Asthma
OMIM:606003	TALDO1	6888	HP:0000325	Triangular face
OMIM:606003	TALDO1	6888	HP:0001518	Small for gestational age
OMIM:606003	TALDO1	6888	HP:0001744	Splenomegaly
OMIM:606003	TALDO1	6888	HP:0001410	Decreased liver function
OMIM:606003	TALDO1	6888	HP:0001629	Ventricular septal defect
OMIM:606003	TALDO1	6888	HP:0002240	Hepatomegaly
OMIM:606003	TALDO1	6888	HP:0000664	Synophrys
OMIM:606003	TALDO1	6888	HP:0000322	Short philtrum
OMIM:606003	TALDO1	6888	HP:0001873	Thrombocytopenia
OMIM:606003	TALDO1	6888	HP:0001876	Pancytopenia
OMIM:606003	TALDO1	6888	HP:0001433	Hepatosplenomegaly
OMIM:606003	TALDO1	6888	HP:0000007	Autosomal recessive inheritance
OMIM:606003	TALDO1	6888	HP:0000369	Low-set ears
OMIM:606003	TALDO1	6888	HP:0001643	Patent ductus arteriosus
OMIM:606003	TALDO1	6888	HP:0001394	Cirrhosis
OMIM:606003	TALDO1	6888	HP:0000233	Thin vermilion border
OMIM:606003	TALDO1	6888	HP:0001009	Telangiectasia
OMIM:606003	TALDO1	6888	HP:0001562	Oligohydramnios
OMIM:606003	TALDO1	6888	HP:0001903	Anemia
OMIM:606003	TALDO1	6888	HP:0000154	Wide mouth
OMIM:606003	TALDO1	6888	HP:0001508	Failure to thrive
OMIM:300580	HACD1	9200	HP:0001644	Dilated cardiomyopathy
OMIM:300580	HACD1	9200	HP:0000508	Ptosis
OMIM:300580	HACD1	9200	HP:0004322	Short stature
OMIM:300580	HACD1	9200	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300580	HACD1	9200	HP:0002033	Poor suck
OMIM:300580	HACD1	9200	HP:0000347	Micrognathia
OMIM:300580	HACD1	9200	HP:0002098	Respiratory distress
OMIM:300580	HACD1	9200	HP:0003198	Myopathy
OMIM:300580	HACD1	9200	HP:0001561	Polyhydramnios
OMIM:300580	HACD1	9200	HP:0001423	X-linked dominant inheritance
OMIM:300580	HACD1	9200	HP:0004325	Decreased body weight
OMIM:300580	TPM2	7169	HP:0001644	Dilated cardiomyopathy
OMIM:300580	TPM2	7169	HP:0000508	Ptosis
OMIM:300580	TPM2	7169	HP:0004322	Short stature
OMIM:300580	TPM2	7169	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300580	TPM2	7169	HP:0002033	Poor suck
OMIM:300580	TPM2	7169	HP:0000347	Micrognathia
OMIM:300580	TPM2	7169	HP:0002098	Respiratory distress
OMIM:300580	TPM2	7169	HP:0003198	Myopathy
OMIM:300580	TPM2	7169	HP:0001561	Polyhydramnios
OMIM:300580	TPM2	7169	HP:0001423	X-linked dominant inheritance
OMIM:300580	TPM2	7169	HP:0004325	Decreased body weight
OMIM:300580	TPM3	7170	HP:0001644	Dilated cardiomyopathy
OMIM:300580	TPM3	7170	HP:0000508	Ptosis
OMIM:300580	TPM3	7170	HP:0004322	Short stature
OMIM:300580	TPM3	7170	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300580	TPM3	7170	HP:0002033	Poor suck
OMIM:300580	TPM3	7170	HP:0000347	Micrognathia
OMIM:300580	TPM3	7170	HP:0002098	Respiratory distress
OMIM:300580	TPM3	7170	HP:0003198	Myopathy
OMIM:300580	TPM3	7170	HP:0001561	Polyhydramnios
OMIM:300580	TPM3	7170	HP:0001423	X-linked dominant inheritance
OMIM:300580	TPM3	7170	HP:0004325	Decreased body weight
OMIM:300580	SEPN1	57190	HP:0001644	Dilated cardiomyopathy
OMIM:300580	SEPN1	57190	HP:0000508	Ptosis
OMIM:300580	SEPN1	57190	HP:0004322	Short stature
OMIM:300580	SEPN1	57190	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300580	SEPN1	57190	HP:0002033	Poor suck
OMIM:300580	SEPN1	57190	HP:0000347	Micrognathia
OMIM:300580	SEPN1	57190	HP:0002098	Respiratory distress
OMIM:300580	SEPN1	57190	HP:0003198	Myopathy
OMIM:300580	SEPN1	57190	HP:0001561	Polyhydramnios
OMIM:300580	SEPN1	57190	HP:0001423	X-linked dominant inheritance
OMIM:300580	SEPN1	57190	HP:0004325	Decreased body weight
OMIM:300580	MYL2	4633	HP:0001644	Dilated cardiomyopathy
OMIM:300580	MYL2	4633	HP:0000508	Ptosis
OMIM:300580	MYL2	4633	HP:0004322	Short stature
OMIM:300580	MYL2	4633	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300580	MYL2	4633	HP:0002033	Poor suck
OMIM:300580	MYL2	4633	HP:0000347	Micrognathia
OMIM:300580	MYL2	4633	HP:0002098	Respiratory distress
OMIM:300580	MYL2	4633	HP:0003198	Myopathy
OMIM:300580	MYL2	4633	HP:0001561	Polyhydramnios
OMIM:300580	MYL2	4633	HP:0001423	X-linked dominant inheritance
OMIM:300580	MYL2	4633	HP:0004325	Decreased body weight
OMIM:300580	ACTA1	58	HP:0001644	Dilated cardiomyopathy
OMIM:300580	ACTA1	58	HP:0000508	Ptosis
OMIM:300580	ACTA1	58	HP:0004322	Short stature
OMIM:300580	ACTA1	58	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300580	ACTA1	58	HP:0002033	Poor suck
OMIM:300580	ACTA1	58	HP:0000347	Micrognathia
OMIM:300580	ACTA1	58	HP:0002098	Respiratory distress
OMIM:300580	ACTA1	58	HP:0003198	Myopathy
OMIM:300580	ACTA1	58	HP:0001561	Polyhydramnios
OMIM:300580	ACTA1	58	HP:0001423	X-linked dominant inheritance
OMIM:300580	ACTA1	58	HP:0004325	Decreased body weight
OMIM:300580	ITGA7	3679	HP:0001644	Dilated cardiomyopathy
OMIM:300580	ITGA7	3679	HP:0000508	Ptosis
OMIM:300580	ITGA7	3679	HP:0004322	Short stature
OMIM:300580	ITGA7	3679	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:300580	ITGA7	3679	HP:0002033	Poor suck
OMIM:300580	ITGA7	3679	HP:0000347	Micrognathia
OMIM:300580	ITGA7	3679	HP:0002098	Respiratory distress
OMIM:300580	ITGA7	3679	HP:0003198	Myopathy
OMIM:300580	ITGA7	3679	HP:0001561	Polyhydramnios
OMIM:300580	ITGA7	3679	HP:0001423	X-linked dominant inheritance
OMIM:300580	ITGA7	3679	HP:0004325	Decreased body weight
OMIM:167250	SQSTM1	8878	HP:0000006	Autosomal dominant inheritance
OMIM:167250	SQSTM1	8878	HP:0002669	Osteosarcoma
OMIM:167250	SQSTM1	8878	HP:0002653	Bone pain
OMIM:167250	SQSTM1	8878	HP:0000365	Hearing impairment
OMIM:269250	SLC35D1	23169	HP:0040199	Flat midface
OMIM:269250	SLC35D1	23169	HP:0004233	Advanced ossification of carpal bones
OMIM:269250	SLC35D1	23169	HP:0000175	Cleft palate
OMIM:269250	SLC35D1	23169	HP:0000007	Autosomal recessive inheritance
OMIM:269250	SLC35D1	23169	HP:0000272	Malar flattening
OMIM:269250	SLC35D1	23169	HP:0000774	Narrow chest
OMIM:269250	SLC35D1	23169	HP:0008873	Disproportionate short-limb short stature
OMIM:269250	SLC35D1	23169	HP:0000882	Hypoplastic scapulae
OMIM:269250	SLC35D1	23169	HP:0000470	Short neck
OMIM:269250	SLC35D1	23169	HP:0001231	Abnormality of the fingernails
OMIM:269250	SLC35D1	23169	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:269250	SLC35D1	23169	HP:0000256	Macrocephaly
OMIM:269250	SLC35D1	23169	HP:0001156	Brachydactyly syndrome
OMIM:269250	SLC35D1	23169	HP:0000268	Dolichocephaly
OMIM:269250	SLC35D1	23169	HP:0000028	Cryptorchidism
OMIM:269250	SLC35D1	23169	HP:0003025	Metaphyseal irregularity
OMIM:269250	SLC35D1	23169	HP:0000773	Short ribs
OMIM:269250	SLC35D1	23169	HP:0001561	Polyhydramnios
OMIM:269250	SLC35D1	23169	HP:0000944	Abnormality of the metaphyses
OMIM:269250	SLC35D1	23169	HP:0002983	Micromelia
OMIM:269250	SLC35D1	23169	HP:0000912	Sprengel anomaly
OMIM:269250	SLC35D1	23169	HP:0002991	Abnormality of the fibula
OMIM:269250	SLC35D1	23169	HP:0001800	Hypoplastic toenails
OMIM:269250	SLC35D1	23169	HP:0003826	Stillbirth
OMIM:269250	SLC35D1	23169	HP:0008368	Tarsal synostosis
OMIM:269250	SLC35D1	23169	HP:0001004	Lymphedema
OMIM:269250	SLC35D1	23169	HP:0005616	Accelerated skeletal maturation
OMIM:269250	SLC35D1	23169	HP:0003300	Ovoid vertebral bodies
OMIM:613849	SPARC	6678	HP:0000007	Autosomal recessive inheritance
OMIM:613849	SPARC	6678	HP:0000272	Malar flattening
OMIM:613849	SPARC	6678	HP:0002645	Wormian bones
OMIM:613849	SPARC	6678	HP:0005280	Depressed nasal bridge
OMIM:613849	SPARC	6678	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613849	SPARC	6678	HP:0004322	Short stature
OMIM:613849	SPARC	6678	HP:0011800	Hypoplasia of midface
OMIM:613849	SPARC	6678	HP:0000336	Prominent supraorbital ridges
OMIM:613849	SPARC	6678	HP:0002650	Scoliosis
OMIM:613849	SPARC	6678	HP:0000684	Delayed eruption of teeth
OMIM:613849	SPARC	6678	HP:0001270	Motor delay
OMIM:613849	SPARC	6678	HP:0000768	Pectus carinatum
OMIM:613849	SPARC	6678	HP:0000160	Narrow mouth
OMIM:613849	SPARC	6678	HP:0000218	High palate
OMIM:613849	SPARC	6678	HP:0000347	Micrognathia
OMIM:613849	SPARC	6678	HP:0000324	Facial asymmetry
OMIM:613849	SPARC	6678	HP:0011220	Prominent forehead
OMIM:613849	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:613849	PPIB	5479	HP:0000272	Malar flattening
OMIM:613849	PPIB	5479	HP:0002645	Wormian bones
OMIM:613849	PPIB	5479	HP:0005280	Depressed nasal bridge
OMIM:613849	PPIB	5479	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613849	PPIB	5479	HP:0004322	Short stature
OMIM:613849	PPIB	5479	HP:0011800	Hypoplasia of midface
OMIM:613849	PPIB	5479	HP:0000336	Prominent supraorbital ridges
OMIM:613849	PPIB	5479	HP:0002650	Scoliosis
OMIM:613849	PPIB	5479	HP:0000684	Delayed eruption of teeth
OMIM:613849	PPIB	5479	HP:0001270	Motor delay
OMIM:613849	PPIB	5479	HP:0000768	Pectus carinatum
OMIM:613849	PPIB	5479	HP:0000160	Narrow mouth
OMIM:613849	PPIB	5479	HP:0000218	High palate
OMIM:613849	PPIB	5479	HP:0000347	Micrognathia
OMIM:613849	PPIB	5479	HP:0000324	Facial asymmetry
OMIM:613849	PPIB	5479	HP:0011220	Prominent forehead
OMIM:613849	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:613849	SERPINF1	5176	HP:0000272	Malar flattening
OMIM:613849	SERPINF1	5176	HP:0002645	Wormian bones
OMIM:613849	SERPINF1	5176	HP:0005280	Depressed nasal bridge
OMIM:613849	SERPINF1	5176	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613849	SERPINF1	5176	HP:0004322	Short stature
OMIM:613849	SERPINF1	5176	HP:0011800	Hypoplasia of midface
OMIM:613849	SERPINF1	5176	HP:0000336	Prominent supraorbital ridges
OMIM:613849	SERPINF1	5176	HP:0002650	Scoliosis
OMIM:613849	SERPINF1	5176	HP:0000684	Delayed eruption of teeth
OMIM:613849	SERPINF1	5176	HP:0001270	Motor delay
OMIM:613849	SERPINF1	5176	HP:0000768	Pectus carinatum
OMIM:613849	SERPINF1	5176	HP:0000160	Narrow mouth
OMIM:613849	SERPINF1	5176	HP:0000218	High palate
OMIM:613849	SERPINF1	5176	HP:0000347	Micrognathia
OMIM:613849	SERPINF1	5176	HP:0000324	Facial asymmetry
OMIM:613849	SERPINF1	5176	HP:0011220	Prominent forehead
OMIM:613849	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:613849	FKBP10	60681	HP:0000272	Malar flattening
OMIM:613849	FKBP10	60681	HP:0002645	Wormian bones
OMIM:613849	FKBP10	60681	HP:0005280	Depressed nasal bridge
OMIM:613849	FKBP10	60681	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613849	FKBP10	60681	HP:0004322	Short stature
OMIM:613849	FKBP10	60681	HP:0011800	Hypoplasia of midface
OMIM:613849	FKBP10	60681	HP:0000336	Prominent supraorbital ridges
OMIM:613849	FKBP10	60681	HP:0002650	Scoliosis
OMIM:613849	FKBP10	60681	HP:0000684	Delayed eruption of teeth
OMIM:613849	FKBP10	60681	HP:0001270	Motor delay
OMIM:613849	FKBP10	60681	HP:0000768	Pectus carinatum
OMIM:613849	FKBP10	60681	HP:0000160	Narrow mouth
OMIM:613849	FKBP10	60681	HP:0000218	High palate
OMIM:613849	FKBP10	60681	HP:0000347	Micrognathia
OMIM:613849	FKBP10	60681	HP:0000324	Facial asymmetry
OMIM:613849	FKBP10	60681	HP:0011220	Prominent forehead
OMIM:613849	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:613849	CRTAP	10491	HP:0000272	Malar flattening
OMIM:613849	CRTAP	10491	HP:0002645	Wormian bones
OMIM:613849	CRTAP	10491	HP:0005280	Depressed nasal bridge
OMIM:613849	CRTAP	10491	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613849	CRTAP	10491	HP:0004322	Short stature
OMIM:613849	CRTAP	10491	HP:0011800	Hypoplasia of midface
OMIM:613849	CRTAP	10491	HP:0000336	Prominent supraorbital ridges
OMIM:613849	CRTAP	10491	HP:0002650	Scoliosis
OMIM:613849	CRTAP	10491	HP:0000684	Delayed eruption of teeth
OMIM:613849	CRTAP	10491	HP:0001270	Motor delay
OMIM:613849	CRTAP	10491	HP:0000768	Pectus carinatum
OMIM:613849	CRTAP	10491	HP:0000160	Narrow mouth
OMIM:613849	CRTAP	10491	HP:0000218	High palate
OMIM:613849	CRTAP	10491	HP:0000347	Micrognathia
OMIM:613849	CRTAP	10491	HP:0000324	Facial asymmetry
OMIM:613849	CRTAP	10491	HP:0011220	Prominent forehead
OMIM:613849	SP7	121340	HP:0000007	Autosomal recessive inheritance
OMIM:613849	SP7	121340	HP:0000272	Malar flattening
OMIM:613849	SP7	121340	HP:0002645	Wormian bones
OMIM:613849	SP7	121340	HP:0005280	Depressed nasal bridge
OMIM:613849	SP7	121340	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613849	SP7	121340	HP:0004322	Short stature
OMIM:613849	SP7	121340	HP:0011800	Hypoplasia of midface
OMIM:613849	SP7	121340	HP:0000336	Prominent supraorbital ridges
OMIM:613849	SP7	121340	HP:0002650	Scoliosis
OMIM:613849	SP7	121340	HP:0000684	Delayed eruption of teeth
OMIM:613849	SP7	121340	HP:0001270	Motor delay
OMIM:613849	SP7	121340	HP:0000768	Pectus carinatum
OMIM:613849	SP7	121340	HP:0000160	Narrow mouth
OMIM:613849	SP7	121340	HP:0000218	High palate
OMIM:613849	SP7	121340	HP:0000347	Micrognathia
OMIM:613849	SP7	121340	HP:0000324	Facial asymmetry
OMIM:613849	SP7	121340	HP:0011220	Prominent forehead
OMIM:613849	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:613849	COL1A1	1277	HP:0000272	Malar flattening
OMIM:613849	COL1A1	1277	HP:0002645	Wormian bones
OMIM:613849	COL1A1	1277	HP:0005280	Depressed nasal bridge
OMIM:613849	COL1A1	1277	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613849	COL1A1	1277	HP:0004322	Short stature
OMIM:613849	COL1A1	1277	HP:0011800	Hypoplasia of midface
OMIM:613849	COL1A1	1277	HP:0000336	Prominent supraorbital ridges
OMIM:613849	COL1A1	1277	HP:0002650	Scoliosis
OMIM:613849	COL1A1	1277	HP:0000684	Delayed eruption of teeth
OMIM:613849	COL1A1	1277	HP:0001270	Motor delay
OMIM:613849	COL1A1	1277	HP:0000768	Pectus carinatum
OMIM:613849	COL1A1	1277	HP:0000160	Narrow mouth
OMIM:613849	COL1A1	1277	HP:0000218	High palate
OMIM:613849	COL1A1	1277	HP:0000347	Micrognathia
OMIM:613849	COL1A1	1277	HP:0000324	Facial asymmetry
OMIM:613849	COL1A1	1277	HP:0011220	Prominent forehead
OMIM:613849	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:613849	COL1A2	1278	HP:0000272	Malar flattening
OMIM:613849	COL1A2	1278	HP:0002645	Wormian bones
OMIM:613849	COL1A2	1278	HP:0005280	Depressed nasal bridge
OMIM:613849	COL1A2	1278	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613849	COL1A2	1278	HP:0004322	Short stature
OMIM:613849	COL1A2	1278	HP:0011800	Hypoplasia of midface
OMIM:613849	COL1A2	1278	HP:0000336	Prominent supraorbital ridges
OMIM:613849	COL1A2	1278	HP:0002650	Scoliosis
OMIM:613849	COL1A2	1278	HP:0000684	Delayed eruption of teeth
OMIM:613849	COL1A2	1278	HP:0001270	Motor delay
OMIM:613849	COL1A2	1278	HP:0000768	Pectus carinatum
OMIM:613849	COL1A2	1278	HP:0000160	Narrow mouth
OMIM:613849	COL1A2	1278	HP:0000218	High palate
OMIM:613849	COL1A2	1278	HP:0000347	Micrognathia
OMIM:613849	COL1A2	1278	HP:0000324	Facial asymmetry
OMIM:613849	COL1A2	1278	HP:0011220	Prominent forehead
OMIM:613849	TMEM38B	55151	HP:0000007	Autosomal recessive inheritance
OMIM:613849	TMEM38B	55151	HP:0000272	Malar flattening
OMIM:613849	TMEM38B	55151	HP:0002645	Wormian bones
OMIM:613849	TMEM38B	55151	HP:0005280	Depressed nasal bridge
OMIM:613849	TMEM38B	55151	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613849	TMEM38B	55151	HP:0004322	Short stature
OMIM:613849	TMEM38B	55151	HP:0011800	Hypoplasia of midface
OMIM:613849	TMEM38B	55151	HP:0000336	Prominent supraorbital ridges
OMIM:613849	TMEM38B	55151	HP:0002650	Scoliosis
OMIM:613849	TMEM38B	55151	HP:0000684	Delayed eruption of teeth
OMIM:613849	TMEM38B	55151	HP:0001270	Motor delay
OMIM:613849	TMEM38B	55151	HP:0000768	Pectus carinatum
OMIM:613849	TMEM38B	55151	HP:0000160	Narrow mouth
OMIM:613849	TMEM38B	55151	HP:0000218	High palate
OMIM:613849	TMEM38B	55151	HP:0000347	Micrognathia
OMIM:613849	TMEM38B	55151	HP:0000324	Facial asymmetry
OMIM:613849	TMEM38B	55151	HP:0011220	Prominent forehead
OMIM:613849	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:613849	WNT1	7471	HP:0000272	Malar flattening
OMIM:613849	WNT1	7471	HP:0002645	Wormian bones
OMIM:613849	WNT1	7471	HP:0005280	Depressed nasal bridge
OMIM:613849	WNT1	7471	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:613849	WNT1	7471	HP:0004322	Short stature
OMIM:613849	WNT1	7471	HP:0011800	Hypoplasia of midface
OMIM:613849	WNT1	7471	HP:0000336	Prominent supraorbital ridges
OMIM:613849	WNT1	7471	HP:0002650	Scoliosis
OMIM:613849	WNT1	7471	HP:0000684	Delayed eruption of teeth
OMIM:613849	WNT1	7471	HP:0001270	Motor delay
OMIM:613849	WNT1	7471	HP:0000768	Pectus carinatum
OMIM:613849	WNT1	7471	HP:0000160	Narrow mouth
OMIM:613849	WNT1	7471	HP:0000218	High palate
OMIM:613849	WNT1	7471	HP:0000347	Micrognathia
OMIM:613849	WNT1	7471	HP:0000324	Facial asymmetry
OMIM:613849	WNT1	7471	HP:0011220	Prominent forehead
OMIM:145420	SPECC1L	23384	HP:0000028	Cryptorchidism
OMIM:145420	SPECC1L	23384	HP:0000368	Low-set, posteriorly rotated ears
OMIM:145420	SPECC1L	23384	HP:0000486	Strabismus
OMIM:145420	SPECC1L	23384	HP:0006288	Advanced eruption of teeth
OMIM:145420	SPECC1L	23384	HP:0000049	Shawl scrotum
OMIM:145420	SPECC1L	23384	HP:0000343	Long philtrum
OMIM:145420	SPECC1L	23384	HP:0000494	Downslanted palpebral fissures
OMIM:145420	SPECC1L	23384	HP:0001537	Umbilical hernia
OMIM:145420	SPECC1L	23384	HP:0005280	Depressed nasal bridge
OMIM:145420	SPECC1L	23384	HP:0009890	High anterior hairline
OMIM:145420	SPECC1L	23384	HP:0011039	Abnormality of the helix
OMIM:145420	SPECC1L	23384	HP:0003196	Short nose
OMIM:145420	SPECC1L	23384	HP:0010458	Female pseudohermaphroditism
OMIM:145420	SPECC1L	23384	HP:0000316	Hypertelorism
OMIM:145420	SPECC1L	23384	HP:0001629	Ventricular septal defect
OMIM:145420	SPECC1L	23384	HP:0000006	Autosomal dominant inheritance
OMIM:145420	SPECC1L	23384	HP:0000383	Abnormality of periauricular region
OMIM:145420	SPECC1L	23384	HP:0001631	Atria septal defect
OMIM:145420	SPECC1L	23384	HP:0001636	Tetralogy of Fallot
OMIM:145420	SPECC1L	23384	HP:0000232	Everted lower lip vermilion
OMIM:145420	SPECC1L	23384	HP:0002553	Highly arched eyebrow
OMIM:145420	SPECC1L	23384	HP:0011220	Prominent forehead
OMIM:145420	SPECC1L	23384	HP:0000574	Thick eyebrow
OMIM:145420	SPECC1L	23384	HP:0004209	Clinodactyly of the 5th finger
OMIM:145420	SPECC1L	23384	HP:0001156	Brachydactyly syndrome
OMIM:145420	SPECC1L	23384	HP:0001539	Omphalocele
OMIM:145420	SPECC1L	23384	HP:0001643	Patent ductus arteriosus
OMIM:145420	SPECC1L	23384	HP:0000233	Thin vermilion border
OMIM:145420	SPECC1L	23384	HP:0002007	Frontal bossing
OMIM:145420	SPECC1L	23384	HP:0000311	Round face
OMIM:145420	SPECC1L	23384	HP:0000202	Oral cleft
OMIM:145420	SPECC1L	23384	HP:0000426	Prominent nasal bridge
OMIM:145420	SPECC1L	23384	HP:0000431	Wide nasal bridge
OMIM:145420	SPECC1L	23384	HP:0000520	Proptosis
OMIM:145420	SPECC1L	23384	HP:0001831	Short toe
OMIM:145420	SPECC1L	23384	HP:0000508	Ptosis
OMIM:145420	SPECC1L	23384	HP:0006101	Finger syndactyly
OMIM:145420	SPECC1L	23384	HP:0000767	Pectus excavatum
OMIM:145420	SPECC1L	23384	HP:0011675	Arrhythmia
OMIM:145420	SPECC1L	23384	HP:0100542	Abnormal localization of kidney
OMIM:613341	RLBP1	6017	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RLBP1	6017	HP:0000550	Undetectable electroretinogram
OMIM:613341	RLBP1	6017	HP:0000613	Photophobia
OMIM:613341	RLBP1	6017	HP:0000543	Optic disc pallor
OMIM:613341	RLBP1	6017	HP:0000639	Nystagmus
OMIM:613341	RLBP1	6017	HP:0000980	Pallor
OMIM:613341	RLBP1	6017	HP:0000662	Nyctalopia
OMIM:613341	RLBP1	6017	HP:0002527	Falls
OMIM:613341	RLBP1	6017	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RLBP1	6017	HP:0007875	Congenital blindness
OMIM:613341	RLBP1	6017	HP:0007663	Reduced visual acuity
OMIM:613341	RLBP1	6017	HP:0000510	Rod-cone dystrophy
OMIM:613341	SPATA7	55812	HP:0000007	Autosomal recessive inheritance
OMIM:613341	SPATA7	55812	HP:0000550	Undetectable electroretinogram
OMIM:613341	SPATA7	55812	HP:0000613	Photophobia
OMIM:613341	SPATA7	55812	HP:0000543	Optic disc pallor
OMIM:613341	SPATA7	55812	HP:0000639	Nystagmus
OMIM:613341	SPATA7	55812	HP:0000980	Pallor
OMIM:613341	SPATA7	55812	HP:0000662	Nyctalopia
OMIM:613341	SPATA7	55812	HP:0002527	Falls
OMIM:613341	SPATA7	55812	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	SPATA7	55812	HP:0007875	Congenital blindness
OMIM:613341	SPATA7	55812	HP:0007663	Reduced visual acuity
OMIM:613341	SPATA7	55812	HP:0000510	Rod-cone dystrophy
OMIM:613341	ARL6	84100	HP:0000007	Autosomal recessive inheritance
OMIM:613341	ARL6	84100	HP:0000550	Undetectable electroretinogram
OMIM:613341	ARL6	84100	HP:0000613	Photophobia
OMIM:613341	ARL6	84100	HP:0000543	Optic disc pallor
OMIM:613341	ARL6	84100	HP:0000639	Nystagmus
OMIM:613341	ARL6	84100	HP:0000980	Pallor
OMIM:613341	ARL6	84100	HP:0000662	Nyctalopia
OMIM:613341	ARL6	84100	HP:0002527	Falls
OMIM:613341	ARL6	84100	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	ARL6	84100	HP:0007875	Congenital blindness
OMIM:613341	ARL6	84100	HP:0007663	Reduced visual acuity
OMIM:613341	ARL6	84100	HP:0000510	Rod-cone dystrophy
OMIM:613341	CERKL	375298	HP:0000007	Autosomal recessive inheritance
OMIM:613341	CERKL	375298	HP:0000550	Undetectable electroretinogram
OMIM:613341	CERKL	375298	HP:0000613	Photophobia
OMIM:613341	CERKL	375298	HP:0000543	Optic disc pallor
OMIM:613341	CERKL	375298	HP:0000639	Nystagmus
OMIM:613341	CERKL	375298	HP:0000980	Pallor
OMIM:613341	CERKL	375298	HP:0000662	Nyctalopia
OMIM:613341	CERKL	375298	HP:0002527	Falls
OMIM:613341	CERKL	375298	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	CERKL	375298	HP:0007875	Congenital blindness
OMIM:613341	CERKL	375298	HP:0007663	Reduced visual acuity
OMIM:613341	CERKL	375298	HP:0000510	Rod-cone dystrophy
OMIM:613341	RPGRIP1	57096	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RPGRIP1	57096	HP:0000550	Undetectable electroretinogram
OMIM:613341	RPGRIP1	57096	HP:0000613	Photophobia
OMIM:613341	RPGRIP1	57096	HP:0000543	Optic disc pallor
OMIM:613341	RPGRIP1	57096	HP:0000639	Nystagmus
OMIM:613341	RPGRIP1	57096	HP:0000980	Pallor
OMIM:613341	RPGRIP1	57096	HP:0000662	Nyctalopia
OMIM:613341	RPGRIP1	57096	HP:0002527	Falls
OMIM:613341	RPGRIP1	57096	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RPGRIP1	57096	HP:0007875	Congenital blindness
OMIM:613341	RPGRIP1	57096	HP:0007663	Reduced visual acuity
OMIM:613341	RPGRIP1	57096	HP:0000510	Rod-cone dystrophy
OMIM:613341	LCA5	167691	HP:0000007	Autosomal recessive inheritance
OMIM:613341	LCA5	167691	HP:0000550	Undetectable electroretinogram
OMIM:613341	LCA5	167691	HP:0000613	Photophobia
OMIM:613341	LCA5	167691	HP:0000543	Optic disc pallor
OMIM:613341	LCA5	167691	HP:0000639	Nystagmus
OMIM:613341	LCA5	167691	HP:0000980	Pallor
OMIM:613341	LCA5	167691	HP:0000662	Nyctalopia
OMIM:613341	LCA5	167691	HP:0002527	Falls
OMIM:613341	LCA5	167691	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	LCA5	167691	HP:0007875	Congenital blindness
OMIM:613341	LCA5	167691	HP:0007663	Reduced visual acuity
OMIM:613341	LCA5	167691	HP:0000510	Rod-cone dystrophy
OMIM:613341	PRPF31	26121	HP:0000007	Autosomal recessive inheritance
OMIM:613341	PRPF31	26121	HP:0000550	Undetectable electroretinogram
OMIM:613341	PRPF31	26121	HP:0000613	Photophobia
OMIM:613341	PRPF31	26121	HP:0000543	Optic disc pallor
OMIM:613341	PRPF31	26121	HP:0000639	Nystagmus
OMIM:613341	PRPF31	26121	HP:0000980	Pallor
OMIM:613341	PRPF31	26121	HP:0000662	Nyctalopia
OMIM:613341	PRPF31	26121	HP:0002527	Falls
OMIM:613341	PRPF31	26121	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	PRPF31	26121	HP:0007875	Congenital blindness
OMIM:613341	PRPF31	26121	HP:0007663	Reduced visual acuity
OMIM:613341	PRPF31	26121	HP:0000510	Rod-cone dystrophy
OMIM:613341	TTC8	123016	HP:0000007	Autosomal recessive inheritance
OMIM:613341	TTC8	123016	HP:0000550	Undetectable electroretinogram
OMIM:613341	TTC8	123016	HP:0000613	Photophobia
OMIM:613341	TTC8	123016	HP:0000543	Optic disc pallor
OMIM:613341	TTC8	123016	HP:0000639	Nystagmus
OMIM:613341	TTC8	123016	HP:0000980	Pallor
OMIM:613341	TTC8	123016	HP:0000662	Nyctalopia
OMIM:613341	TTC8	123016	HP:0002527	Falls
OMIM:613341	TTC8	123016	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	TTC8	123016	HP:0007875	Congenital blindness
OMIM:613341	TTC8	123016	HP:0007663	Reduced visual acuity
OMIM:613341	TTC8	123016	HP:0000510	Rod-cone dystrophy
OMIM:613341	PROM1	8842	HP:0000007	Autosomal recessive inheritance
OMIM:613341	PROM1	8842	HP:0000550	Undetectable electroretinogram
OMIM:613341	PROM1	8842	HP:0000613	Photophobia
OMIM:613341	PROM1	8842	HP:0000543	Optic disc pallor
OMIM:613341	PROM1	8842	HP:0000639	Nystagmus
OMIM:613341	PROM1	8842	HP:0000980	Pallor
OMIM:613341	PROM1	8842	HP:0000662	Nyctalopia
OMIM:613341	PROM1	8842	HP:0002527	Falls
OMIM:613341	PROM1	8842	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	PROM1	8842	HP:0007875	Congenital blindness
OMIM:613341	PROM1	8842	HP:0007663	Reduced visual acuity
OMIM:613341	PROM1	8842	HP:0000510	Rod-cone dystrophy
OMIM:613341	LRAT	9227	HP:0000007	Autosomal recessive inheritance
OMIM:613341	LRAT	9227	HP:0000550	Undetectable electroretinogram
OMIM:613341	LRAT	9227	HP:0000613	Photophobia
OMIM:613341	LRAT	9227	HP:0000543	Optic disc pallor
OMIM:613341	LRAT	9227	HP:0000639	Nystagmus
OMIM:613341	LRAT	9227	HP:0000980	Pallor
OMIM:613341	LRAT	9227	HP:0000662	Nyctalopia
OMIM:613341	LRAT	9227	HP:0002527	Falls
OMIM:613341	LRAT	9227	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	LRAT	9227	HP:0007875	Congenital blindness
OMIM:613341	LRAT	9227	HP:0007663	Reduced visual acuity
OMIM:613341	LRAT	9227	HP:0000510	Rod-cone dystrophy
OMIM:613341	IFT140	9742	HP:0000007	Autosomal recessive inheritance
OMIM:613341	IFT140	9742	HP:0000550	Undetectable electroretinogram
OMIM:613341	IFT140	9742	HP:0000613	Photophobia
OMIM:613341	IFT140	9742	HP:0000543	Optic disc pallor
OMIM:613341	IFT140	9742	HP:0000639	Nystagmus
OMIM:613341	IFT140	9742	HP:0000980	Pallor
OMIM:613341	IFT140	9742	HP:0000662	Nyctalopia
OMIM:613341	IFT140	9742	HP:0002527	Falls
OMIM:613341	IFT140	9742	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	IFT140	9742	HP:0007875	Congenital blindness
OMIM:613341	IFT140	9742	HP:0007663	Reduced visual acuity
OMIM:613341	IFT140	9742	HP:0000510	Rod-cone dystrophy
OMIM:613341	BEST1	7439	HP:0000007	Autosomal recessive inheritance
OMIM:613341	BEST1	7439	HP:0000550	Undetectable electroretinogram
OMIM:613341	BEST1	7439	HP:0000613	Photophobia
OMIM:613341	BEST1	7439	HP:0000543	Optic disc pallor
OMIM:613341	BEST1	7439	HP:0000639	Nystagmus
OMIM:613341	BEST1	7439	HP:0000980	Pallor
OMIM:613341	BEST1	7439	HP:0000662	Nyctalopia
OMIM:613341	BEST1	7439	HP:0002527	Falls
OMIM:613341	BEST1	7439	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	BEST1	7439	HP:0007875	Congenital blindness
OMIM:613341	BEST1	7439	HP:0007663	Reduced visual acuity
OMIM:613341	BEST1	7439	HP:0000510	Rod-cone dystrophy
OMIM:613341	NEK2	4751	HP:0000007	Autosomal recessive inheritance
OMIM:613341	NEK2	4751	HP:0000550	Undetectable electroretinogram
OMIM:613341	NEK2	4751	HP:0000613	Photophobia
OMIM:613341	NEK2	4751	HP:0000543	Optic disc pallor
OMIM:613341	NEK2	4751	HP:0000639	Nystagmus
OMIM:613341	NEK2	4751	HP:0000980	Pallor
OMIM:613341	NEK2	4751	HP:0000662	Nyctalopia
OMIM:613341	NEK2	4751	HP:0002527	Falls
OMIM:613341	NEK2	4751	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	NEK2	4751	HP:0007875	Congenital blindness
OMIM:613341	NEK2	4751	HP:0007663	Reduced visual acuity
OMIM:613341	NEK2	4751	HP:0000510	Rod-cone dystrophy
OMIM:613341	ARL2BP	23568	HP:0000007	Autosomal recessive inheritance
OMIM:613341	ARL2BP	23568	HP:0000550	Undetectable electroretinogram
OMIM:613341	ARL2BP	23568	HP:0000613	Photophobia
OMIM:613341	ARL2BP	23568	HP:0000543	Optic disc pallor
OMIM:613341	ARL2BP	23568	HP:0000639	Nystagmus
OMIM:613341	ARL2BP	23568	HP:0000980	Pallor
OMIM:613341	ARL2BP	23568	HP:0000662	Nyctalopia
OMIM:613341	ARL2BP	23568	HP:0002527	Falls
OMIM:613341	ARL2BP	23568	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	ARL2BP	23568	HP:0007875	Congenital blindness
OMIM:613341	ARL2BP	23568	HP:0007663	Reduced visual acuity
OMIM:613341	ARL2BP	23568	HP:0000510	Rod-cone dystrophy
OMIM:613341	NR2E3	10002	HP:0000007	Autosomal recessive inheritance
OMIM:613341	NR2E3	10002	HP:0000550	Undetectable electroretinogram
OMIM:613341	NR2E3	10002	HP:0000613	Photophobia
OMIM:613341	NR2E3	10002	HP:0000543	Optic disc pallor
OMIM:613341	NR2E3	10002	HP:0000639	Nystagmus
OMIM:613341	NR2E3	10002	HP:0000980	Pallor
OMIM:613341	NR2E3	10002	HP:0000662	Nyctalopia
OMIM:613341	NR2E3	10002	HP:0002527	Falls
OMIM:613341	NR2E3	10002	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	NR2E3	10002	HP:0007875	Congenital blindness
OMIM:613341	NR2E3	10002	HP:0007663	Reduced visual acuity
OMIM:613341	NR2E3	10002	HP:0000510	Rod-cone dystrophy
OMIM:613341	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613341	EYS	346007	HP:0000550	Undetectable electroretinogram
OMIM:613341	EYS	346007	HP:0000613	Photophobia
OMIM:613341	EYS	346007	HP:0000543	Optic disc pallor
OMIM:613341	EYS	346007	HP:0000639	Nystagmus
OMIM:613341	EYS	346007	HP:0000980	Pallor
OMIM:613341	EYS	346007	HP:0000662	Nyctalopia
OMIM:613341	EYS	346007	HP:0002527	Falls
OMIM:613341	EYS	346007	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	EYS	346007	HP:0007875	Congenital blindness
OMIM:613341	EYS	346007	HP:0007663	Reduced visual acuity
OMIM:613341	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613341	MAK	4117	HP:0000007	Autosomal recessive inheritance
OMIM:613341	MAK	4117	HP:0000550	Undetectable electroretinogram
OMIM:613341	MAK	4117	HP:0000613	Photophobia
OMIM:613341	MAK	4117	HP:0000543	Optic disc pallor
OMIM:613341	MAK	4117	HP:0000639	Nystagmus
OMIM:613341	MAK	4117	HP:0000980	Pallor
OMIM:613341	MAK	4117	HP:0000662	Nyctalopia
OMIM:613341	MAK	4117	HP:0002527	Falls
OMIM:613341	MAK	4117	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	MAK	4117	HP:0007875	Congenital blindness
OMIM:613341	MAK	4117	HP:0007663	Reduced visual acuity
OMIM:613341	MAK	4117	HP:0000510	Rod-cone dystrophy
OMIM:613341	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613341	SAG	6295	HP:0000550	Undetectable electroretinogram
OMIM:613341	SAG	6295	HP:0000613	Photophobia
OMIM:613341	SAG	6295	HP:0000543	Optic disc pallor
OMIM:613341	SAG	6295	HP:0000639	Nystagmus
OMIM:613341	SAG	6295	HP:0000980	Pallor
OMIM:613341	SAG	6295	HP:0000662	Nyctalopia
OMIM:613341	SAG	6295	HP:0002527	Falls
OMIM:613341	SAG	6295	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	SAG	6295	HP:0007875	Congenital blindness
OMIM:613341	SAG	6295	HP:0007663	Reduced visual acuity
OMIM:613341	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613341	ABCA4	24	HP:0000007	Autosomal recessive inheritance
OMIM:613341	ABCA4	24	HP:0000550	Undetectable electroretinogram
OMIM:613341	ABCA4	24	HP:0000613	Photophobia
OMIM:613341	ABCA4	24	HP:0000543	Optic disc pallor
OMIM:613341	ABCA4	24	HP:0000639	Nystagmus
OMIM:613341	ABCA4	24	HP:0000980	Pallor
OMIM:613341	ABCA4	24	HP:0000662	Nyctalopia
OMIM:613341	ABCA4	24	HP:0002527	Falls
OMIM:613341	ABCA4	24	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	ABCA4	24	HP:0007875	Congenital blindness
OMIM:613341	ABCA4	24	HP:0007663	Reduced visual acuity
OMIM:613341	ABCA4	24	HP:0000510	Rod-cone dystrophy
OMIM:613341	PDE6A	5145	HP:0000007	Autosomal recessive inheritance
OMIM:613341	PDE6A	5145	HP:0000550	Undetectable electroretinogram
OMIM:613341	PDE6A	5145	HP:0000613	Photophobia
OMIM:613341	PDE6A	5145	HP:0000543	Optic disc pallor
OMIM:613341	PDE6A	5145	HP:0000639	Nystagmus
OMIM:613341	PDE6A	5145	HP:0000980	Pallor
OMIM:613341	PDE6A	5145	HP:0000662	Nyctalopia
OMIM:613341	PDE6A	5145	HP:0002527	Falls
OMIM:613341	PDE6A	5145	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	PDE6A	5145	HP:0007875	Congenital blindness
OMIM:613341	PDE6A	5145	HP:0007663	Reduced visual acuity
OMIM:613341	PDE6A	5145	HP:0000510	Rod-cone dystrophy
OMIM:613341	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613341	PDE6G	5148	HP:0000550	Undetectable electroretinogram
OMIM:613341	PDE6G	5148	HP:0000613	Photophobia
OMIM:613341	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:613341	PDE6G	5148	HP:0000639	Nystagmus
OMIM:613341	PDE6G	5148	HP:0000980	Pallor
OMIM:613341	PDE6G	5148	HP:0000662	Nyctalopia
OMIM:613341	PDE6G	5148	HP:0002527	Falls
OMIM:613341	PDE6G	5148	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	PDE6G	5148	HP:0007875	Congenital blindness
OMIM:613341	PDE6G	5148	HP:0007663	Reduced visual acuity
OMIM:613341	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613341	IMPDH1	3614	HP:0000007	Autosomal recessive inheritance
OMIM:613341	IMPDH1	3614	HP:0000550	Undetectable electroretinogram
OMIM:613341	IMPDH1	3614	HP:0000613	Photophobia
OMIM:613341	IMPDH1	3614	HP:0000543	Optic disc pallor
OMIM:613341	IMPDH1	3614	HP:0000639	Nystagmus
OMIM:613341	IMPDH1	3614	HP:0000980	Pallor
OMIM:613341	IMPDH1	3614	HP:0000662	Nyctalopia
OMIM:613341	IMPDH1	3614	HP:0002527	Falls
OMIM:613341	IMPDH1	3614	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	IMPDH1	3614	HP:0007875	Congenital blindness
OMIM:613341	IMPDH1	3614	HP:0007663	Reduced visual acuity
OMIM:613341	IMPDH1	3614	HP:0000510	Rod-cone dystrophy
OMIM:613341	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:613341	OFD1	8481	HP:0000550	Undetectable electroretinogram
OMIM:613341	OFD1	8481	HP:0000613	Photophobia
OMIM:613341	OFD1	8481	HP:0000543	Optic disc pallor
OMIM:613341	OFD1	8481	HP:0000639	Nystagmus
OMIM:613341	OFD1	8481	HP:0000980	Pallor
OMIM:613341	OFD1	8481	HP:0000662	Nyctalopia
OMIM:613341	OFD1	8481	HP:0002527	Falls
OMIM:613341	OFD1	8481	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	OFD1	8481	HP:0007875	Congenital blindness
OMIM:613341	OFD1	8481	HP:0007663	Reduced visual acuity
OMIM:613341	OFD1	8481	HP:0000510	Rod-cone dystrophy
OMIM:613341	NMNAT1	64802	HP:0000007	Autosomal recessive inheritance
OMIM:613341	NMNAT1	64802	HP:0000550	Undetectable electroretinogram
OMIM:613341	NMNAT1	64802	HP:0000613	Photophobia
OMIM:613341	NMNAT1	64802	HP:0000543	Optic disc pallor
OMIM:613341	NMNAT1	64802	HP:0000639	Nystagmus
OMIM:613341	NMNAT1	64802	HP:0000980	Pallor
OMIM:613341	NMNAT1	64802	HP:0000662	Nyctalopia
OMIM:613341	NMNAT1	64802	HP:0002527	Falls
OMIM:613341	NMNAT1	64802	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	NMNAT1	64802	HP:0007875	Congenital blindness
OMIM:613341	NMNAT1	64802	HP:0007663	Reduced visual acuity
OMIM:613341	NMNAT1	64802	HP:0000510	Rod-cone dystrophy
OMIM:613341	GUCA1B	2979	HP:0000007	Autosomal recessive inheritance
OMIM:613341	GUCA1B	2979	HP:0000550	Undetectable electroretinogram
OMIM:613341	GUCA1B	2979	HP:0000613	Photophobia
OMIM:613341	GUCA1B	2979	HP:0000543	Optic disc pallor
OMIM:613341	GUCA1B	2979	HP:0000639	Nystagmus
OMIM:613341	GUCA1B	2979	HP:0000980	Pallor
OMIM:613341	GUCA1B	2979	HP:0000662	Nyctalopia
OMIM:613341	GUCA1B	2979	HP:0002527	Falls
OMIM:613341	GUCA1B	2979	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	GUCA1B	2979	HP:0007875	Congenital blindness
OMIM:613341	GUCA1B	2979	HP:0007663	Reduced visual acuity
OMIM:613341	GUCA1B	2979	HP:0000510	Rod-cone dystrophy
OMIM:613341	NRL	4901	HP:0000007	Autosomal recessive inheritance
OMIM:613341	NRL	4901	HP:0000550	Undetectable electroretinogram
OMIM:613341	NRL	4901	HP:0000613	Photophobia
OMIM:613341	NRL	4901	HP:0000543	Optic disc pallor
OMIM:613341	NRL	4901	HP:0000639	Nystagmus
OMIM:613341	NRL	4901	HP:0000980	Pallor
OMIM:613341	NRL	4901	HP:0000662	Nyctalopia
OMIM:613341	NRL	4901	HP:0002527	Falls
OMIM:613341	NRL	4901	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	NRL	4901	HP:0007875	Congenital blindness
OMIM:613341	NRL	4901	HP:0007663	Reduced visual acuity
OMIM:613341	NRL	4901	HP:0000510	Rod-cone dystrophy
OMIM:613341	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:613341	PDE6B	5158	HP:0000550	Undetectable electroretinogram
OMIM:613341	PDE6B	5158	HP:0000613	Photophobia
OMIM:613341	PDE6B	5158	HP:0000543	Optic disc pallor
OMIM:613341	PDE6B	5158	HP:0000639	Nystagmus
OMIM:613341	PDE6B	5158	HP:0000980	Pallor
OMIM:613341	PDE6B	5158	HP:0000662	Nyctalopia
OMIM:613341	PDE6B	5158	HP:0002527	Falls
OMIM:613341	PDE6B	5158	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	PDE6B	5158	HP:0007875	Congenital blindness
OMIM:613341	PDE6B	5158	HP:0007663	Reduced visual acuity
OMIM:613341	PDE6B	5158	HP:0000510	Rod-cone dystrophy
OMIM:613341	KLHL7	55975	HP:0000007	Autosomal recessive inheritance
OMIM:613341	KLHL7	55975	HP:0000550	Undetectable electroretinogram
OMIM:613341	KLHL7	55975	HP:0000613	Photophobia
OMIM:613341	KLHL7	55975	HP:0000543	Optic disc pallor
OMIM:613341	KLHL7	55975	HP:0000639	Nystagmus
OMIM:613341	KLHL7	55975	HP:0000980	Pallor
OMIM:613341	KLHL7	55975	HP:0000662	Nyctalopia
OMIM:613341	KLHL7	55975	HP:0002527	Falls
OMIM:613341	KLHL7	55975	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	KLHL7	55975	HP:0007875	Congenital blindness
OMIM:613341	KLHL7	55975	HP:0007663	Reduced visual acuity
OMIM:613341	KLHL7	55975	HP:0000510	Rod-cone dystrophy
OMIM:613341	PRPF4	9128	HP:0000007	Autosomal recessive inheritance
OMIM:613341	PRPF4	9128	HP:0000550	Undetectable electroretinogram
OMIM:613341	PRPF4	9128	HP:0000613	Photophobia
OMIM:613341	PRPF4	9128	HP:0000543	Optic disc pallor
OMIM:613341	PRPF4	9128	HP:0000639	Nystagmus
OMIM:613341	PRPF4	9128	HP:0000980	Pallor
OMIM:613341	PRPF4	9128	HP:0000662	Nyctalopia
OMIM:613341	PRPF4	9128	HP:0002527	Falls
OMIM:613341	PRPF4	9128	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	PRPF4	9128	HP:0007875	Congenital blindness
OMIM:613341	PRPF4	9128	HP:0007663	Reduced visual acuity
OMIM:613341	PRPF4	9128	HP:0000510	Rod-cone dystrophy
OMIM:613341	PRPF3	9129	HP:0000007	Autosomal recessive inheritance
OMIM:613341	PRPF3	9129	HP:0000550	Undetectable electroretinogram
OMIM:613341	PRPF3	9129	HP:0000613	Photophobia
OMIM:613341	PRPF3	9129	HP:0000543	Optic disc pallor
OMIM:613341	PRPF3	9129	HP:0000639	Nystagmus
OMIM:613341	PRPF3	9129	HP:0000980	Pallor
OMIM:613341	PRPF3	9129	HP:0000662	Nyctalopia
OMIM:613341	PRPF3	9129	HP:0002527	Falls
OMIM:613341	PRPF3	9129	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	PRPF3	9129	HP:0007875	Congenital blindness
OMIM:613341	PRPF3	9129	HP:0007663	Reduced visual acuity
OMIM:613341	PRPF3	9129	HP:0000510	Rod-cone dystrophy
OMIM:613341	FAM161A	84140	HP:0000007	Autosomal recessive inheritance
OMIM:613341	FAM161A	84140	HP:0000550	Undetectable electroretinogram
OMIM:613341	FAM161A	84140	HP:0000613	Photophobia
OMIM:613341	FAM161A	84140	HP:0000543	Optic disc pallor
OMIM:613341	FAM161A	84140	HP:0000639	Nystagmus
OMIM:613341	FAM161A	84140	HP:0000980	Pallor
OMIM:613341	FAM161A	84140	HP:0000662	Nyctalopia
OMIM:613341	FAM161A	84140	HP:0002527	Falls
OMIM:613341	FAM161A	84140	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	FAM161A	84140	HP:0007875	Congenital blindness
OMIM:613341	FAM161A	84140	HP:0007663	Reduced visual acuity
OMIM:613341	FAM161A	84140	HP:0000510	Rod-cone dystrophy
OMIM:613341	IFT172	26160	HP:0000007	Autosomal recessive inheritance
OMIM:613341	IFT172	26160	HP:0000550	Undetectable electroretinogram
OMIM:613341	IFT172	26160	HP:0000613	Photophobia
OMIM:613341	IFT172	26160	HP:0000543	Optic disc pallor
OMIM:613341	IFT172	26160	HP:0000639	Nystagmus
OMIM:613341	IFT172	26160	HP:0000980	Pallor
OMIM:613341	IFT172	26160	HP:0000662	Nyctalopia
OMIM:613341	IFT172	26160	HP:0002527	Falls
OMIM:613341	IFT172	26160	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	IFT172	26160	HP:0007875	Congenital blindness
OMIM:613341	IFT172	26160	HP:0007663	Reduced visual acuity
OMIM:613341	IFT172	26160	HP:0000510	Rod-cone dystrophy
OMIM:613341	KIZ	55857	HP:0000007	Autosomal recessive inheritance
OMIM:613341	KIZ	55857	HP:0000550	Undetectable electroretinogram
OMIM:613341	KIZ	55857	HP:0000613	Photophobia
OMIM:613341	KIZ	55857	HP:0000543	Optic disc pallor
OMIM:613341	KIZ	55857	HP:0000639	Nystagmus
OMIM:613341	KIZ	55857	HP:0000980	Pallor
OMIM:613341	KIZ	55857	HP:0000662	Nyctalopia
OMIM:613341	KIZ	55857	HP:0002527	Falls
OMIM:613341	KIZ	55857	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	KIZ	55857	HP:0007875	Congenital blindness
OMIM:613341	KIZ	55857	HP:0007663	Reduced visual acuity
OMIM:613341	KIZ	55857	HP:0000510	Rod-cone dystrophy
OMIM:613341	CDHR1	92211	HP:0000007	Autosomal recessive inheritance
OMIM:613341	CDHR1	92211	HP:0000550	Undetectable electroretinogram
OMIM:613341	CDHR1	92211	HP:0000613	Photophobia
OMIM:613341	CDHR1	92211	HP:0000543	Optic disc pallor
OMIM:613341	CDHR1	92211	HP:0000639	Nystagmus
OMIM:613341	CDHR1	92211	HP:0000980	Pallor
OMIM:613341	CDHR1	92211	HP:0000662	Nyctalopia
OMIM:613341	CDHR1	92211	HP:0002527	Falls
OMIM:613341	CDHR1	92211	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	CDHR1	92211	HP:0007875	Congenital blindness
OMIM:613341	CDHR1	92211	HP:0007663	Reduced visual acuity
OMIM:613341	CDHR1	92211	HP:0000510	Rod-cone dystrophy
OMIM:613341	ZNF408	79797	HP:0000007	Autosomal recessive inheritance
OMIM:613341	ZNF408	79797	HP:0000550	Undetectable electroretinogram
OMIM:613341	ZNF408	79797	HP:0000613	Photophobia
OMIM:613341	ZNF408	79797	HP:0000543	Optic disc pallor
OMIM:613341	ZNF408	79797	HP:0000639	Nystagmus
OMIM:613341	ZNF408	79797	HP:0000980	Pallor
OMIM:613341	ZNF408	79797	HP:0000662	Nyctalopia
OMIM:613341	ZNF408	79797	HP:0002527	Falls
OMIM:613341	ZNF408	79797	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	ZNF408	79797	HP:0007875	Congenital blindness
OMIM:613341	ZNF408	79797	HP:0007663	Reduced visual acuity
OMIM:613341	ZNF408	79797	HP:0000510	Rod-cone dystrophy
OMIM:613341	GUCY2D	3000	HP:0000007	Autosomal recessive inheritance
OMIM:613341	GUCY2D	3000	HP:0000550	Undetectable electroretinogram
OMIM:613341	GUCY2D	3000	HP:0000613	Photophobia
OMIM:613341	GUCY2D	3000	HP:0000543	Optic disc pallor
OMIM:613341	GUCY2D	3000	HP:0000639	Nystagmus
OMIM:613341	GUCY2D	3000	HP:0000980	Pallor
OMIM:613341	GUCY2D	3000	HP:0000662	Nyctalopia
OMIM:613341	GUCY2D	3000	HP:0002527	Falls
OMIM:613341	GUCY2D	3000	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	GUCY2D	3000	HP:0007875	Congenital blindness
OMIM:613341	GUCY2D	3000	HP:0007663	Reduced visual acuity
OMIM:613341	GUCY2D	3000	HP:0000510	Rod-cone dystrophy
OMIM:613341	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:613341	CEP290	80184	HP:0000550	Undetectable electroretinogram
OMIM:613341	CEP290	80184	HP:0000613	Photophobia
OMIM:613341	CEP290	80184	HP:0000543	Optic disc pallor
OMIM:613341	CEP290	80184	HP:0000639	Nystagmus
OMIM:613341	CEP290	80184	HP:0000980	Pallor
OMIM:613341	CEP290	80184	HP:0000662	Nyctalopia
OMIM:613341	CEP290	80184	HP:0002527	Falls
OMIM:613341	CEP290	80184	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	CEP290	80184	HP:0007875	Congenital blindness
OMIM:613341	CEP290	80184	HP:0007663	Reduced visual acuity
OMIM:613341	CEP290	80184	HP:0000510	Rod-cone dystrophy
OMIM:613341	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:613341	IQCB1	9657	HP:0000550	Undetectable electroretinogram
OMIM:613341	IQCB1	9657	HP:0000613	Photophobia
OMIM:613341	IQCB1	9657	HP:0000543	Optic disc pallor
OMIM:613341	IQCB1	9657	HP:0000639	Nystagmus
OMIM:613341	IQCB1	9657	HP:0000980	Pallor
OMIM:613341	IQCB1	9657	HP:0000662	Nyctalopia
OMIM:613341	IQCB1	9657	HP:0002527	Falls
OMIM:613341	IQCB1	9657	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	IQCB1	9657	HP:0007875	Congenital blindness
OMIM:613341	IQCB1	9657	HP:0007663	Reduced visual acuity
OMIM:613341	IQCB1	9657	HP:0000510	Rod-cone dystrophy
OMIM:613341	KCNJ13	3769	HP:0000007	Autosomal recessive inheritance
OMIM:613341	KCNJ13	3769	HP:0000550	Undetectable electroretinogram
OMIM:613341	KCNJ13	3769	HP:0000613	Photophobia
OMIM:613341	KCNJ13	3769	HP:0000543	Optic disc pallor
OMIM:613341	KCNJ13	3769	HP:0000639	Nystagmus
OMIM:613341	KCNJ13	3769	HP:0000980	Pallor
OMIM:613341	KCNJ13	3769	HP:0000662	Nyctalopia
OMIM:613341	KCNJ13	3769	HP:0002527	Falls
OMIM:613341	KCNJ13	3769	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	KCNJ13	3769	HP:0007875	Congenital blindness
OMIM:613341	KCNJ13	3769	HP:0007663	Reduced visual acuity
OMIM:613341	KCNJ13	3769	HP:0000510	Rod-cone dystrophy
OMIM:613341	GDF6	392255	HP:0000007	Autosomal recessive inheritance
OMIM:613341	GDF6	392255	HP:0000550	Undetectable electroretinogram
OMIM:613341	GDF6	392255	HP:0000613	Photophobia
OMIM:613341	GDF6	392255	HP:0000543	Optic disc pallor
OMIM:613341	GDF6	392255	HP:0000639	Nystagmus
OMIM:613341	GDF6	392255	HP:0000980	Pallor
OMIM:613341	GDF6	392255	HP:0000662	Nyctalopia
OMIM:613341	GDF6	392255	HP:0002527	Falls
OMIM:613341	GDF6	392255	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	GDF6	392255	HP:0007875	Congenital blindness
OMIM:613341	GDF6	392255	HP:0007663	Reduced visual acuity
OMIM:613341	GDF6	392255	HP:0000510	Rod-cone dystrophy
OMIM:613341	RBP3	5949	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RBP3	5949	HP:0000550	Undetectable electroretinogram
OMIM:613341	RBP3	5949	HP:0000613	Photophobia
OMIM:613341	RBP3	5949	HP:0000543	Optic disc pallor
OMIM:613341	RBP3	5949	HP:0000639	Nystagmus
OMIM:613341	RBP3	5949	HP:0000980	Pallor
OMIM:613341	RBP3	5949	HP:0000662	Nyctalopia
OMIM:613341	RBP3	5949	HP:0002527	Falls
OMIM:613341	RBP3	5949	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RBP3	5949	HP:0007875	Congenital blindness
OMIM:613341	RBP3	5949	HP:0007663	Reduced visual acuity
OMIM:613341	RBP3	5949	HP:0000510	Rod-cone dystrophy
OMIM:613341	HGSNAT	138050	HP:0000007	Autosomal recessive inheritance
OMIM:613341	HGSNAT	138050	HP:0000550	Undetectable electroretinogram
OMIM:613341	HGSNAT	138050	HP:0000613	Photophobia
OMIM:613341	HGSNAT	138050	HP:0000543	Optic disc pallor
OMIM:613341	HGSNAT	138050	HP:0000639	Nystagmus
OMIM:613341	HGSNAT	138050	HP:0000980	Pallor
OMIM:613341	HGSNAT	138050	HP:0000662	Nyctalopia
OMIM:613341	HGSNAT	138050	HP:0002527	Falls
OMIM:613341	HGSNAT	138050	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	HGSNAT	138050	HP:0007875	Congenital blindness
OMIM:613341	HGSNAT	138050	HP:0007663	Reduced visual acuity
OMIM:613341	HGSNAT	138050	HP:0000510	Rod-cone dystrophy
OMIM:613341	AIPL1	23746	HP:0000007	Autosomal recessive inheritance
OMIM:613341	AIPL1	23746	HP:0000550	Undetectable electroretinogram
OMIM:613341	AIPL1	23746	HP:0000613	Photophobia
OMIM:613341	AIPL1	23746	HP:0000543	Optic disc pallor
OMIM:613341	AIPL1	23746	HP:0000639	Nystagmus
OMIM:613341	AIPL1	23746	HP:0000980	Pallor
OMIM:613341	AIPL1	23746	HP:0000662	Nyctalopia
OMIM:613341	AIPL1	23746	HP:0002527	Falls
OMIM:613341	AIPL1	23746	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	AIPL1	23746	HP:0007875	Congenital blindness
OMIM:613341	AIPL1	23746	HP:0007663	Reduced visual acuity
OMIM:613341	AIPL1	23746	HP:0000510	Rod-cone dystrophy
OMIM:613341	FSCN2	25794	HP:0000007	Autosomal recessive inheritance
OMIM:613341	FSCN2	25794	HP:0000550	Undetectable electroretinogram
OMIM:613341	FSCN2	25794	HP:0000613	Photophobia
OMIM:613341	FSCN2	25794	HP:0000543	Optic disc pallor
OMIM:613341	FSCN2	25794	HP:0000639	Nystagmus
OMIM:613341	FSCN2	25794	HP:0000980	Pallor
OMIM:613341	FSCN2	25794	HP:0000662	Nyctalopia
OMIM:613341	FSCN2	25794	HP:0002527	Falls
OMIM:613341	FSCN2	25794	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	FSCN2	25794	HP:0007875	Congenital blindness
OMIM:613341	FSCN2	25794	HP:0007663	Reduced visual acuity
OMIM:613341	FSCN2	25794	HP:0000510	Rod-cone dystrophy
OMIM:613341	PRCD	768206	HP:0000007	Autosomal recessive inheritance
OMIM:613341	PRCD	768206	HP:0000550	Undetectable electroretinogram
OMIM:613341	PRCD	768206	HP:0000613	Photophobia
OMIM:613341	PRCD	768206	HP:0000543	Optic disc pallor
OMIM:613341	PRCD	768206	HP:0000639	Nystagmus
OMIM:613341	PRCD	768206	HP:0000980	Pallor
OMIM:613341	PRCD	768206	HP:0000662	Nyctalopia
OMIM:613341	PRCD	768206	HP:0002527	Falls
OMIM:613341	PRCD	768206	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	PRCD	768206	HP:0007875	Congenital blindness
OMIM:613341	PRCD	768206	HP:0007663	Reduced visual acuity
OMIM:613341	PRCD	768206	HP:0000510	Rod-cone dystrophy
OMIM:613341	BBS2	583	HP:0000007	Autosomal recessive inheritance
OMIM:613341	BBS2	583	HP:0000550	Undetectable electroretinogram
OMIM:613341	BBS2	583	HP:0000613	Photophobia
OMIM:613341	BBS2	583	HP:0000543	Optic disc pallor
OMIM:613341	BBS2	583	HP:0000639	Nystagmus
OMIM:613341	BBS2	583	HP:0000980	Pallor
OMIM:613341	BBS2	583	HP:0000662	Nyctalopia
OMIM:613341	BBS2	583	HP:0002527	Falls
OMIM:613341	BBS2	583	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	BBS2	583	HP:0007875	Congenital blindness
OMIM:613341	BBS2	583	HP:0007663	Reduced visual acuity
OMIM:613341	BBS2	583	HP:0000510	Rod-cone dystrophy
OMIM:613341	RDH12	145226	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RDH12	145226	HP:0000550	Undetectable electroretinogram
OMIM:613341	RDH12	145226	HP:0000613	Photophobia
OMIM:613341	RDH12	145226	HP:0000543	Optic disc pallor
OMIM:613341	RDH12	145226	HP:0000639	Nystagmus
OMIM:613341	RDH12	145226	HP:0000980	Pallor
OMIM:613341	RDH12	145226	HP:0000662	Nyctalopia
OMIM:613341	RDH12	145226	HP:0002527	Falls
OMIM:613341	RDH12	145226	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RDH12	145226	HP:0007875	Congenital blindness
OMIM:613341	RDH12	145226	HP:0007663	Reduced visual acuity
OMIM:613341	RDH12	145226	HP:0000510	Rod-cone dystrophy
OMIM:613341	PRPH2	5961	HP:0000007	Autosomal recessive inheritance
OMIM:613341	PRPH2	5961	HP:0000550	Undetectable electroretinogram
OMIM:613341	PRPH2	5961	HP:0000613	Photophobia
OMIM:613341	PRPH2	5961	HP:0000543	Optic disc pallor
OMIM:613341	PRPH2	5961	HP:0000639	Nystagmus
OMIM:613341	PRPH2	5961	HP:0000980	Pallor
OMIM:613341	PRPH2	5961	HP:0000662	Nyctalopia
OMIM:613341	PRPH2	5961	HP:0002527	Falls
OMIM:613341	PRPH2	5961	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	PRPH2	5961	HP:0007875	Congenital blindness
OMIM:613341	PRPH2	5961	HP:0007663	Reduced visual acuity
OMIM:613341	PRPH2	5961	HP:0000510	Rod-cone dystrophy
OMIM:613341	DHDDS	79947	HP:0000007	Autosomal recessive inheritance
OMIM:613341	DHDDS	79947	HP:0000550	Undetectable electroretinogram
OMIM:613341	DHDDS	79947	HP:0000613	Photophobia
OMIM:613341	DHDDS	79947	HP:0000543	Optic disc pallor
OMIM:613341	DHDDS	79947	HP:0000639	Nystagmus
OMIM:613341	DHDDS	79947	HP:0000980	Pallor
OMIM:613341	DHDDS	79947	HP:0000662	Nyctalopia
OMIM:613341	DHDDS	79947	HP:0002527	Falls
OMIM:613341	DHDDS	79947	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	DHDDS	79947	HP:0007875	Congenital blindness
OMIM:613341	DHDDS	79947	HP:0007663	Reduced visual acuity
OMIM:613341	DHDDS	79947	HP:0000510	Rod-cone dystrophy
OMIM:613341	ROM1	6094	HP:0000007	Autosomal recessive inheritance
OMIM:613341	ROM1	6094	HP:0000550	Undetectable electroretinogram
OMIM:613341	ROM1	6094	HP:0000613	Photophobia
OMIM:613341	ROM1	6094	HP:0000543	Optic disc pallor
OMIM:613341	ROM1	6094	HP:0000639	Nystagmus
OMIM:613341	ROM1	6094	HP:0000980	Pallor
OMIM:613341	ROM1	6094	HP:0000662	Nyctalopia
OMIM:613341	ROM1	6094	HP:0002527	Falls
OMIM:613341	ROM1	6094	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	ROM1	6094	HP:0007875	Congenital blindness
OMIM:613341	ROM1	6094	HP:0007663	Reduced visual acuity
OMIM:613341	ROM1	6094	HP:0000510	Rod-cone dystrophy
OMIM:613341	C2ORF71	388939	HP:0000007	Autosomal recessive inheritance
OMIM:613341	C2ORF71	388939	HP:0000550	Undetectable electroretinogram
OMIM:613341	C2ORF71	388939	HP:0000613	Photophobia
OMIM:613341	C2ORF71	388939	HP:0000543	Optic disc pallor
OMIM:613341	C2ORF71	388939	HP:0000639	Nystagmus
OMIM:613341	C2ORF71	388939	HP:0000980	Pallor
OMIM:613341	C2ORF71	388939	HP:0000662	Nyctalopia
OMIM:613341	C2ORF71	388939	HP:0002527	Falls
OMIM:613341	C2ORF71	388939	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	C2ORF71	388939	HP:0007875	Congenital blindness
OMIM:613341	C2ORF71	388939	HP:0007663	Reduced visual acuity
OMIM:613341	C2ORF71	388939	HP:0000510	Rod-cone dystrophy
OMIM:613341	RP9	6100	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RP9	6100	HP:0000550	Undetectable electroretinogram
OMIM:613341	RP9	6100	HP:0000613	Photophobia
OMIM:613341	RP9	6100	HP:0000543	Optic disc pallor
OMIM:613341	RP9	6100	HP:0000639	Nystagmus
OMIM:613341	RP9	6100	HP:0000980	Pallor
OMIM:613341	RP9	6100	HP:0000662	Nyctalopia
OMIM:613341	RP9	6100	HP:0002527	Falls
OMIM:613341	RP9	6100	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RP9	6100	HP:0007875	Congenital blindness
OMIM:613341	RP9	6100	HP:0007663	Reduced visual acuity
OMIM:613341	RP9	6100	HP:0000510	Rod-cone dystrophy
OMIM:613341	PRPF6	24148	HP:0000007	Autosomal recessive inheritance
OMIM:613341	PRPF6	24148	HP:0000550	Undetectable electroretinogram
OMIM:613341	PRPF6	24148	HP:0000613	Photophobia
OMIM:613341	PRPF6	24148	HP:0000543	Optic disc pallor
OMIM:613341	PRPF6	24148	HP:0000639	Nystagmus
OMIM:613341	PRPF6	24148	HP:0000980	Pallor
OMIM:613341	PRPF6	24148	HP:0000662	Nyctalopia
OMIM:613341	PRPF6	24148	HP:0002527	Falls
OMIM:613341	PRPF6	24148	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	PRPF6	24148	HP:0007875	Congenital blindness
OMIM:613341	PRPF6	24148	HP:0007663	Reduced visual acuity
OMIM:613341	PRPF6	24148	HP:0000510	Rod-cone dystrophy
OMIM:613341	RP1	6101	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RP1	6101	HP:0000550	Undetectable electroretinogram
OMIM:613341	RP1	6101	HP:0000613	Photophobia
OMIM:613341	RP1	6101	HP:0000543	Optic disc pallor
OMIM:613341	RP1	6101	HP:0000639	Nystagmus
OMIM:613341	RP1	6101	HP:0000980	Pallor
OMIM:613341	RP1	6101	HP:0000662	Nyctalopia
OMIM:613341	RP1	6101	HP:0002527	Falls
OMIM:613341	RP1	6101	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RP1	6101	HP:0007875	Congenital blindness
OMIM:613341	RP1	6101	HP:0007663	Reduced visual acuity
OMIM:613341	RP1	6101	HP:0000510	Rod-cone dystrophy
OMIM:613341	RP2	6102	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RP2	6102	HP:0000550	Undetectable electroretinogram
OMIM:613341	RP2	6102	HP:0000613	Photophobia
OMIM:613341	RP2	6102	HP:0000543	Optic disc pallor
OMIM:613341	RP2	6102	HP:0000639	Nystagmus
OMIM:613341	RP2	6102	HP:0000980	Pallor
OMIM:613341	RP2	6102	HP:0000662	Nyctalopia
OMIM:613341	RP2	6102	HP:0002527	Falls
OMIM:613341	RP2	6102	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RP2	6102	HP:0007875	Congenital blindness
OMIM:613341	RP2	6102	HP:0007663	Reduced visual acuity
OMIM:613341	RP2	6102	HP:0000510	Rod-cone dystrophy
OMIM:613341	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RPGR	6103	HP:0000550	Undetectable electroretinogram
OMIM:613341	RPGR	6103	HP:0000613	Photophobia
OMIM:613341	RPGR	6103	HP:0000543	Optic disc pallor
OMIM:613341	RPGR	6103	HP:0000639	Nystagmus
OMIM:613341	RPGR	6103	HP:0000980	Pallor
OMIM:613341	RPGR	6103	HP:0000662	Nyctalopia
OMIM:613341	RPGR	6103	HP:0002527	Falls
OMIM:613341	RPGR	6103	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RPGR	6103	HP:0007875	Congenital blindness
OMIM:613341	RPGR	6103	HP:0007663	Reduced visual acuity
OMIM:613341	RPGR	6103	HP:0000510	Rod-cone dystrophy
OMIM:613341	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613341	SEMA4A	64218	HP:0000550	Undetectable electroretinogram
OMIM:613341	SEMA4A	64218	HP:0000613	Photophobia
OMIM:613341	SEMA4A	64218	HP:0000543	Optic disc pallor
OMIM:613341	SEMA4A	64218	HP:0000639	Nystagmus
OMIM:613341	SEMA4A	64218	HP:0000980	Pallor
OMIM:613341	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:613341	SEMA4A	64218	HP:0002527	Falls
OMIM:613341	SEMA4A	64218	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	SEMA4A	64218	HP:0007875	Congenital blindness
OMIM:613341	SEMA4A	64218	HP:0007663	Reduced visual acuity
OMIM:613341	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613341	C8ORF37	157657	HP:0000007	Autosomal recessive inheritance
OMIM:613341	C8ORF37	157657	HP:0000550	Undetectable electroretinogram
OMIM:613341	C8ORF37	157657	HP:0000613	Photophobia
OMIM:613341	C8ORF37	157657	HP:0000543	Optic disc pallor
OMIM:613341	C8ORF37	157657	HP:0000639	Nystagmus
OMIM:613341	C8ORF37	157657	HP:0000980	Pallor
OMIM:613341	C8ORF37	157657	HP:0000662	Nyctalopia
OMIM:613341	C8ORF37	157657	HP:0002527	Falls
OMIM:613341	C8ORF37	157657	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	C8ORF37	157657	HP:0007875	Congenital blindness
OMIM:613341	C8ORF37	157657	HP:0007663	Reduced visual acuity
OMIM:613341	C8ORF37	157657	HP:0000510	Rod-cone dystrophy
OMIM:613341	IDH3B	3420	HP:0000007	Autosomal recessive inheritance
OMIM:613341	IDH3B	3420	HP:0000550	Undetectable electroretinogram
OMIM:613341	IDH3B	3420	HP:0000613	Photophobia
OMIM:613341	IDH3B	3420	HP:0000543	Optic disc pallor
OMIM:613341	IDH3B	3420	HP:0000639	Nystagmus
OMIM:613341	IDH3B	3420	HP:0000980	Pallor
OMIM:613341	IDH3B	3420	HP:0000662	Nyctalopia
OMIM:613341	IDH3B	3420	HP:0002527	Falls
OMIM:613341	IDH3B	3420	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	IDH3B	3420	HP:0007875	Congenital blindness
OMIM:613341	IDH3B	3420	HP:0007663	Reduced visual acuity
OMIM:613341	IDH3B	3420	HP:0000510	Rod-cone dystrophy
OMIM:613341	MERTK	10461	HP:0000007	Autosomal recessive inheritance
OMIM:613341	MERTK	10461	HP:0000550	Undetectable electroretinogram
OMIM:613341	MERTK	10461	HP:0000613	Photophobia
OMIM:613341	MERTK	10461	HP:0000543	Optic disc pallor
OMIM:613341	MERTK	10461	HP:0000639	Nystagmus
OMIM:613341	MERTK	10461	HP:0000980	Pallor
OMIM:613341	MERTK	10461	HP:0000662	Nyctalopia
OMIM:613341	MERTK	10461	HP:0002527	Falls
OMIM:613341	MERTK	10461	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	MERTK	10461	HP:0007875	Congenital blindness
OMIM:613341	MERTK	10461	HP:0007663	Reduced visual acuity
OMIM:613341	MERTK	10461	HP:0000510	Rod-cone dystrophy
OMIM:613341	PRPF8	10594	HP:0000007	Autosomal recessive inheritance
OMIM:613341	PRPF8	10594	HP:0000550	Undetectable electroretinogram
OMIM:613341	PRPF8	10594	HP:0000613	Photophobia
OMIM:613341	PRPF8	10594	HP:0000543	Optic disc pallor
OMIM:613341	PRPF8	10594	HP:0000639	Nystagmus
OMIM:613341	PRPF8	10594	HP:0000980	Pallor
OMIM:613341	PRPF8	10594	HP:0000662	Nyctalopia
OMIM:613341	PRPF8	10594	HP:0002527	Falls
OMIM:613341	PRPF8	10594	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	PRPF8	10594	HP:0007875	Congenital blindness
OMIM:613341	PRPF8	10594	HP:0007663	Reduced visual acuity
OMIM:613341	PRPF8	10594	HP:0000510	Rod-cone dystrophy
OMIM:613341	TOPORS	10210	HP:0000007	Autosomal recessive inheritance
OMIM:613341	TOPORS	10210	HP:0000550	Undetectable electroretinogram
OMIM:613341	TOPORS	10210	HP:0000613	Photophobia
OMIM:613341	TOPORS	10210	HP:0000543	Optic disc pallor
OMIM:613341	TOPORS	10210	HP:0000639	Nystagmus
OMIM:613341	TOPORS	10210	HP:0000980	Pallor
OMIM:613341	TOPORS	10210	HP:0000662	Nyctalopia
OMIM:613341	TOPORS	10210	HP:0002527	Falls
OMIM:613341	TOPORS	10210	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	TOPORS	10210	HP:0007875	Congenital blindness
OMIM:613341	TOPORS	10210	HP:0007663	Reduced visual acuity
OMIM:613341	TOPORS	10210	HP:0000510	Rod-cone dystrophy
OMIM:613341	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:613341	USH2A	7399	HP:0000550	Undetectable electroretinogram
OMIM:613341	USH2A	7399	HP:0000613	Photophobia
OMIM:613341	USH2A	7399	HP:0000543	Optic disc pallor
OMIM:613341	USH2A	7399	HP:0000639	Nystagmus
OMIM:613341	USH2A	7399	HP:0000980	Pallor
OMIM:613341	USH2A	7399	HP:0000662	Nyctalopia
OMIM:613341	USH2A	7399	HP:0002527	Falls
OMIM:613341	USH2A	7399	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	USH2A	7399	HP:0007875	Congenital blindness
OMIM:613341	USH2A	7399	HP:0007663	Reduced visual acuity
OMIM:613341	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:613341	RPE65	6121	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RPE65	6121	HP:0000550	Undetectable electroretinogram
OMIM:613341	RPE65	6121	HP:0000613	Photophobia
OMIM:613341	RPE65	6121	HP:0000543	Optic disc pallor
OMIM:613341	RPE65	6121	HP:0000639	Nystagmus
OMIM:613341	RPE65	6121	HP:0000980	Pallor
OMIM:613341	RPE65	6121	HP:0000662	Nyctalopia
OMIM:613341	RPE65	6121	HP:0002527	Falls
OMIM:613341	RPE65	6121	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RPE65	6121	HP:0007875	Congenital blindness
OMIM:613341	RPE65	6121	HP:0007663	Reduced visual acuity
OMIM:613341	RPE65	6121	HP:0000510	Rod-cone dystrophy
OMIM:613341	CLRN1	7401	HP:0000007	Autosomal recessive inheritance
OMIM:613341	CLRN1	7401	HP:0000550	Undetectable electroretinogram
OMIM:613341	CLRN1	7401	HP:0000613	Photophobia
OMIM:613341	CLRN1	7401	HP:0000543	Optic disc pallor
OMIM:613341	CLRN1	7401	HP:0000639	Nystagmus
OMIM:613341	CLRN1	7401	HP:0000980	Pallor
OMIM:613341	CLRN1	7401	HP:0000662	Nyctalopia
OMIM:613341	CLRN1	7401	HP:0002527	Falls
OMIM:613341	CLRN1	7401	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	CLRN1	7401	HP:0007875	Congenital blindness
OMIM:613341	CLRN1	7401	HP:0007663	Reduced visual acuity
OMIM:613341	CLRN1	7401	HP:0000510	Rod-cone dystrophy
OMIM:613341	CNGB1	1258	HP:0000007	Autosomal recessive inheritance
OMIM:613341	CNGB1	1258	HP:0000550	Undetectable electroretinogram
OMIM:613341	CNGB1	1258	HP:0000613	Photophobia
OMIM:613341	CNGB1	1258	HP:0000543	Optic disc pallor
OMIM:613341	CNGB1	1258	HP:0000639	Nystagmus
OMIM:613341	CNGB1	1258	HP:0000980	Pallor
OMIM:613341	CNGB1	1258	HP:0000662	Nyctalopia
OMIM:613341	CNGB1	1258	HP:0002527	Falls
OMIM:613341	CNGB1	1258	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	CNGB1	1258	HP:0007875	Congenital blindness
OMIM:613341	CNGB1	1258	HP:0007663	Reduced visual acuity
OMIM:613341	CNGB1	1258	HP:0000510	Rod-cone dystrophy
OMIM:613341	RGR	5995	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RGR	5995	HP:0000550	Undetectable electroretinogram
OMIM:613341	RGR	5995	HP:0000613	Photophobia
OMIM:613341	RGR	5995	HP:0000543	Optic disc pallor
OMIM:613341	RGR	5995	HP:0000639	Nystagmus
OMIM:613341	RGR	5995	HP:0000980	Pallor
OMIM:613341	RGR	5995	HP:0000662	Nyctalopia
OMIM:613341	RGR	5995	HP:0002527	Falls
OMIM:613341	RGR	5995	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RGR	5995	HP:0007875	Congenital blindness
OMIM:613341	RGR	5995	HP:0007663	Reduced visual acuity
OMIM:613341	RGR	5995	HP:0000510	Rod-cone dystrophy
OMIM:613341	CNGA1	1259	HP:0000007	Autosomal recessive inheritance
OMIM:613341	CNGA1	1259	HP:0000550	Undetectable electroretinogram
OMIM:613341	CNGA1	1259	HP:0000613	Photophobia
OMIM:613341	CNGA1	1259	HP:0000543	Optic disc pallor
OMIM:613341	CNGA1	1259	HP:0000639	Nystagmus
OMIM:613341	CNGA1	1259	HP:0000980	Pallor
OMIM:613341	CNGA1	1259	HP:0000662	Nyctalopia
OMIM:613341	CNGA1	1259	HP:0002527	Falls
OMIM:613341	CNGA1	1259	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	CNGA1	1259	HP:0007875	Congenital blindness
OMIM:613341	CNGA1	1259	HP:0007663	Reduced visual acuity
OMIM:613341	CNGA1	1259	HP:0000510	Rod-cone dystrophy
OMIM:613341	TUB	7275	HP:0000007	Autosomal recessive inheritance
OMIM:613341	TUB	7275	HP:0000550	Undetectable electroretinogram
OMIM:613341	TUB	7275	HP:0000613	Photophobia
OMIM:613341	TUB	7275	HP:0000543	Optic disc pallor
OMIM:613341	TUB	7275	HP:0000639	Nystagmus
OMIM:613341	TUB	7275	HP:0000980	Pallor
OMIM:613341	TUB	7275	HP:0000662	Nyctalopia
OMIM:613341	TUB	7275	HP:0002527	Falls
OMIM:613341	TUB	7275	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	TUB	7275	HP:0007875	Congenital blindness
OMIM:613341	TUB	7275	HP:0007663	Reduced visual acuity
OMIM:613341	TUB	7275	HP:0000510	Rod-cone dystrophy
OMIM:613341	SNRNP200	23020	HP:0000007	Autosomal recessive inheritance
OMIM:613341	SNRNP200	23020	HP:0000550	Undetectable electroretinogram
OMIM:613341	SNRNP200	23020	HP:0000613	Photophobia
OMIM:613341	SNRNP200	23020	HP:0000543	Optic disc pallor
OMIM:613341	SNRNP200	23020	HP:0000639	Nystagmus
OMIM:613341	SNRNP200	23020	HP:0000980	Pallor
OMIM:613341	SNRNP200	23020	HP:0000662	Nyctalopia
OMIM:613341	SNRNP200	23020	HP:0002527	Falls
OMIM:613341	SNRNP200	23020	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	SNRNP200	23020	HP:0007875	Congenital blindness
OMIM:613341	SNRNP200	23020	HP:0007663	Reduced visual acuity
OMIM:613341	SNRNP200	23020	HP:0000510	Rod-cone dystrophy
OMIM:613341	SLC7A14	57709	HP:0000007	Autosomal recessive inheritance
OMIM:613341	SLC7A14	57709	HP:0000550	Undetectable electroretinogram
OMIM:613341	SLC7A14	57709	HP:0000613	Photophobia
OMIM:613341	SLC7A14	57709	HP:0000543	Optic disc pallor
OMIM:613341	SLC7A14	57709	HP:0000639	Nystagmus
OMIM:613341	SLC7A14	57709	HP:0000980	Pallor
OMIM:613341	SLC7A14	57709	HP:0000662	Nyctalopia
OMIM:613341	SLC7A14	57709	HP:0002527	Falls
OMIM:613341	SLC7A14	57709	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	SLC7A14	57709	HP:0007875	Congenital blindness
OMIM:613341	SLC7A14	57709	HP:0007663	Reduced visual acuity
OMIM:613341	SLC7A14	57709	HP:0000510	Rod-cone dystrophy
OMIM:613341	TULP1	7287	HP:0000007	Autosomal recessive inheritance
OMIM:613341	TULP1	7287	HP:0000550	Undetectable electroretinogram
OMIM:613341	TULP1	7287	HP:0000613	Photophobia
OMIM:613341	TULP1	7287	HP:0000543	Optic disc pallor
OMIM:613341	TULP1	7287	HP:0000639	Nystagmus
OMIM:613341	TULP1	7287	HP:0000980	Pallor
OMIM:613341	TULP1	7287	HP:0000662	Nyctalopia
OMIM:613341	TULP1	7287	HP:0002527	Falls
OMIM:613341	TULP1	7287	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	TULP1	7287	HP:0007875	Congenital blindness
OMIM:613341	TULP1	7287	HP:0007663	Reduced visual acuity
OMIM:613341	TULP1	7287	HP:0000510	Rod-cone dystrophy
OMIM:613341	CRB1	23418	HP:0000007	Autosomal recessive inheritance
OMIM:613341	CRB1	23418	HP:0000550	Undetectable electroretinogram
OMIM:613341	CRB1	23418	HP:0000613	Photophobia
OMIM:613341	CRB1	23418	HP:0000543	Optic disc pallor
OMIM:613341	CRB1	23418	HP:0000639	Nystagmus
OMIM:613341	CRB1	23418	HP:0000980	Pallor
OMIM:613341	CRB1	23418	HP:0000662	Nyctalopia
OMIM:613341	CRB1	23418	HP:0002527	Falls
OMIM:613341	CRB1	23418	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	CRB1	23418	HP:0007875	Congenital blindness
OMIM:613341	CRB1	23418	HP:0007663	Reduced visual acuity
OMIM:613341	CRB1	23418	HP:0000510	Rod-cone dystrophy
OMIM:613341	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RHO	6010	HP:0000550	Undetectable electroretinogram
OMIM:613341	RHO	6010	HP:0000613	Photophobia
OMIM:613341	RHO	6010	HP:0000543	Optic disc pallor
OMIM:613341	RHO	6010	HP:0000639	Nystagmus
OMIM:613341	RHO	6010	HP:0000980	Pallor
OMIM:613341	RHO	6010	HP:0000662	Nyctalopia
OMIM:613341	RHO	6010	HP:0002527	Falls
OMIM:613341	RHO	6010	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RHO	6010	HP:0007875	Congenital blindness
OMIM:613341	RHO	6010	HP:0007663	Reduced visual acuity
OMIM:613341	RHO	6010	HP:0000510	Rod-cone dystrophy
OMIM:613341	CA4	762	HP:0000007	Autosomal recessive inheritance
OMIM:613341	CA4	762	HP:0000550	Undetectable electroretinogram
OMIM:613341	CA4	762	HP:0000613	Photophobia
OMIM:613341	CA4	762	HP:0000543	Optic disc pallor
OMIM:613341	CA4	762	HP:0000639	Nystagmus
OMIM:613341	CA4	762	HP:0000980	Pallor
OMIM:613341	CA4	762	HP:0000662	Nyctalopia
OMIM:613341	CA4	762	HP:0002527	Falls
OMIM:613341	CA4	762	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	CA4	762	HP:0007875	Congenital blindness
OMIM:613341	CA4	762	HP:0007663	Reduced visual acuity
OMIM:613341	CA4	762	HP:0000510	Rod-cone dystrophy
OMIM:613341	IMPG2	50939	HP:0000007	Autosomal recessive inheritance
OMIM:613341	IMPG2	50939	HP:0000550	Undetectable electroretinogram
OMIM:613341	IMPG2	50939	HP:0000613	Photophobia
OMIM:613341	IMPG2	50939	HP:0000543	Optic disc pallor
OMIM:613341	IMPG2	50939	HP:0000639	Nystagmus
OMIM:613341	IMPG2	50939	HP:0000980	Pallor
OMIM:613341	IMPG2	50939	HP:0000662	Nyctalopia
OMIM:613341	IMPG2	50939	HP:0002527	Falls
OMIM:613341	IMPG2	50939	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	IMPG2	50939	HP:0007875	Congenital blindness
OMIM:613341	IMPG2	50939	HP:0007663	Reduced visual acuity
OMIM:613341	IMPG2	50939	HP:0000510	Rod-cone dystrophy
OMIM:613341	ZNF513	130557	HP:0000007	Autosomal recessive inheritance
OMIM:613341	ZNF513	130557	HP:0000550	Undetectable electroretinogram
OMIM:613341	ZNF513	130557	HP:0000613	Photophobia
OMIM:613341	ZNF513	130557	HP:0000543	Optic disc pallor
OMIM:613341	ZNF513	130557	HP:0000639	Nystagmus
OMIM:613341	ZNF513	130557	HP:0000980	Pallor
OMIM:613341	ZNF513	130557	HP:0000662	Nyctalopia
OMIM:613341	ZNF513	130557	HP:0002527	Falls
OMIM:613341	ZNF513	130557	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	ZNF513	130557	HP:0007875	Congenital blindness
OMIM:613341	ZNF513	130557	HP:0007663	Reduced visual acuity
OMIM:613341	ZNF513	130557	HP:0000510	Rod-cone dystrophy
OMIM:613341	RD3	343035	HP:0000007	Autosomal recessive inheritance
OMIM:613341	RD3	343035	HP:0000550	Undetectable electroretinogram
OMIM:613341	RD3	343035	HP:0000613	Photophobia
OMIM:613341	RD3	343035	HP:0000543	Optic disc pallor
OMIM:613341	RD3	343035	HP:0000639	Nystagmus
OMIM:613341	RD3	343035	HP:0000980	Pallor
OMIM:613341	RD3	343035	HP:0000662	Nyctalopia
OMIM:613341	RD3	343035	HP:0002527	Falls
OMIM:613341	RD3	343035	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	RD3	343035	HP:0007875	Congenital blindness
OMIM:613341	RD3	343035	HP:0007663	Reduced visual acuity
OMIM:613341	RD3	343035	HP:0000510	Rod-cone dystrophy
OMIM:613341	CRX	1406	HP:0000007	Autosomal recessive inheritance
OMIM:613341	CRX	1406	HP:0000550	Undetectable electroretinogram
OMIM:613341	CRX	1406	HP:0000613	Photophobia
OMIM:613341	CRX	1406	HP:0000543	Optic disc pallor
OMIM:613341	CRX	1406	HP:0000639	Nystagmus
OMIM:613341	CRX	1406	HP:0000980	Pallor
OMIM:613341	CRX	1406	HP:0000662	Nyctalopia
OMIM:613341	CRX	1406	HP:0002527	Falls
OMIM:613341	CRX	1406	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613341	CRX	1406	HP:0007875	Congenital blindness
OMIM:613341	CRX	1406	HP:0007663	Reduced visual acuity
OMIM:613341	CRX	1406	HP:0000510	Rod-cone dystrophy
OMIM:615006	PLCB1	23236	HP:0000737	Irritability
OMIM:615006	PLCB1	23236	HP:0000007	Autosomal recessive inheritance
OMIM:615006	PLCB1	23236	HP:0002521	Hypsarrhythmia
OMIM:615006	PLCB1	23236	HP:0200134	Epileptic encephalopathy
OMIM:615006	PLCB1	23236	HP:0011097	Epileptic spasms
OMIM:615006	PLCB1	23236	HP:0002187	Intellectual disability, profound
OMIM:615006	PLCB1	23236	HP:0001263	Global developmental delay
OMIM:615006	PLCB1	23236	HP:0001252	Muscular hypotonia
OMIM:615006	SPTAN1	6709	HP:0000737	Irritability
OMIM:615006	SPTAN1	6709	HP:0000007	Autosomal recessive inheritance
OMIM:615006	SPTAN1	6709	HP:0002521	Hypsarrhythmia
OMIM:615006	SPTAN1	6709	HP:0200134	Epileptic encephalopathy
OMIM:615006	SPTAN1	6709	HP:0011097	Epileptic spasms
OMIM:615006	SPTAN1	6709	HP:0002187	Intellectual disability, profound
OMIM:615006	SPTAN1	6709	HP:0001263	Global developmental delay
OMIM:615006	SPTAN1	6709	HP:0001252	Muscular hypotonia
OMIM:615006	SCN2A	6326	HP:0000737	Irritability
OMIM:615006	SCN2A	6326	HP:0000007	Autosomal recessive inheritance
OMIM:615006	SCN2A	6326	HP:0002521	Hypsarrhythmia
OMIM:615006	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:615006	SCN2A	6326	HP:0011097	Epileptic spasms
OMIM:615006	SCN2A	6326	HP:0002187	Intellectual disability, profound
OMIM:615006	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:615006	SCN2A	6326	HP:0001252	Muscular hypotonia
OMIM:615006	ST3GAL3	6487	HP:0000737	Irritability
OMIM:615006	ST3GAL3	6487	HP:0000007	Autosomal recessive inheritance
OMIM:615006	ST3GAL3	6487	HP:0002521	Hypsarrhythmia
OMIM:615006	ST3GAL3	6487	HP:0200134	Epileptic encephalopathy
OMIM:615006	ST3GAL3	6487	HP:0011097	Epileptic spasms
OMIM:615006	ST3GAL3	6487	HP:0002187	Intellectual disability, profound
OMIM:615006	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:615006	ST3GAL3	6487	HP:0001252	Muscular hypotonia
OMIM:615006	CDKL5	6792	HP:0000737	Irritability
OMIM:615006	CDKL5	6792	HP:0000007	Autosomal recessive inheritance
OMIM:615006	CDKL5	6792	HP:0002521	Hypsarrhythmia
OMIM:615006	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:615006	CDKL5	6792	HP:0011097	Epileptic spasms
OMIM:615006	CDKL5	6792	HP:0002187	Intellectual disability, profound
OMIM:615006	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:615006	CDKL5	6792	HP:0001252	Muscular hypotonia
OMIM:615006	GRIN2B	2904	HP:0000737	Irritability
OMIM:615006	GRIN2B	2904	HP:0000007	Autosomal recessive inheritance
OMIM:615006	GRIN2B	2904	HP:0002521	Hypsarrhythmia
OMIM:615006	GRIN2B	2904	HP:0200134	Epileptic encephalopathy
OMIM:615006	GRIN2B	2904	HP:0011097	Epileptic spasms
OMIM:615006	GRIN2B	2904	HP:0002187	Intellectual disability, profound
OMIM:615006	GRIN2B	2904	HP:0001263	Global developmental delay
OMIM:615006	GRIN2B	2904	HP:0001252	Muscular hypotonia
OMIM:615006	ARX	170302	HP:0000737	Irritability
OMIM:615006	ARX	170302	HP:0000007	Autosomal recessive inheritance
OMIM:615006	ARX	170302	HP:0002521	Hypsarrhythmia
OMIM:615006	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:615006	ARX	170302	HP:0011097	Epileptic spasms
OMIM:615006	ARX	170302	HP:0002187	Intellectual disability, profound
OMIM:615006	ARX	170302	HP:0001263	Global developmental delay
OMIM:615006	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:615006	SIK1	150094	HP:0000737	Irritability
OMIM:615006	SIK1	150094	HP:0000007	Autosomal recessive inheritance
OMIM:615006	SIK1	150094	HP:0002521	Hypsarrhythmia
OMIM:615006	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:615006	SIK1	150094	HP:0011097	Epileptic spasms
OMIM:615006	SIK1	150094	HP:0002187	Intellectual disability, profound
OMIM:615006	SIK1	150094	HP:0001263	Global developmental delay
OMIM:615006	SIK1	150094	HP:0001252	Muscular hypotonia
OMIM:615006	PIGA	5277	HP:0000737	Irritability
OMIM:615006	PIGA	5277	HP:0000007	Autosomal recessive inheritance
OMIM:615006	PIGA	5277	HP:0002521	Hypsarrhythmia
OMIM:615006	PIGA	5277	HP:0200134	Epileptic encephalopathy
OMIM:615006	PIGA	5277	HP:0011097	Epileptic spasms
OMIM:615006	PIGA	5277	HP:0002187	Intellectual disability, profound
OMIM:615006	PIGA	5277	HP:0001263	Global developmental delay
OMIM:615006	PIGA	5277	HP:0001252	Muscular hypotonia
OMIM:184250	COL2A1	1280	HP:0002652	Skeletal dysplasia
OMIM:184250	COL2A1	1280	HP:0000175	Cleft palate
OMIM:184250	COL2A1	1280	HP:0000272	Malar flattening
OMIM:184250	COL2A1	1280	HP:0001763	Pes planus
OMIM:184250	COL2A1	1280	HP:0000545	Myopia
OMIM:184250	COL2A1	1280	HP:0001156	Brachydactyly syndrome
OMIM:184250	COL2A1	1280	HP:0002857	Genu valgum
OMIM:184250	COL2A1	1280	HP:0003307	Hyperlordosis
OMIM:184250	COL2A1	1280	HP:0003375	Narrow greater sacrosciatic notches
OMIM:184250	COL2A1	1280	HP:0004322	Short stature
OMIM:184250	COL2A1	1280	HP:0005930	Abnormality of epiphysis morphology
OMIM:184250	COL2A1	1280	HP:0002970	Genu varum
OMIM:184250	COL2A1	1280	HP:0003510	Severe short stature
OMIM:184250	COL2A1	1280	HP:0002650	Scoliosis
OMIM:184250	COL2A1	1280	HP:0002093	Respiratory insufficiency
OMIM:184250	COL2A1	1280	HP:0003272	Abnormality of the hip bone
OMIM:184250	COL2A1	1280	HP:0001538	Protuberant abdomen
OMIM:184250	COL2A1	1280	HP:0002808	Kyphosis
OMIM:184250	COL2A1	1280	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:184250	COL2A1	1280	HP:0002983	Micromelia
OMIM:184250	COL2A1	1280	HP:0002823	Abnormality of the femur
OMIM:184250	COL2A1	1280	HP:0003311	Hypoplasia of the odontoid process
OMIM:184250	COL2A1	1280	HP:0000023	Inguinal hernia
OMIM:184250	COL2A1	1280	HP:0002812	Coxa vara
OMIM:184250	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:184250	COL2A1	1280	HP:0000768	Pectus carinatum
OMIM:184250	COL2A1	1280	HP:0000316	Hypertelorism
OMIM:184250	COL2A1	1280	HP:0001883	Talipes
OMIM:184250	COL2A1	1280	HP:0010306	Short thorax
OMIM:184250	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:184250	COL2A1	1280	HP:0003025	Metaphyseal irregularity
OMIM:184250	COL2A1	1280	HP:0001288	Gait disturbance
OMIM:184250	COL2A1	1280	HP:0003173	Hypoplastic pubic bone
OMIM:184250	COL2A1	1280	HP:0002758	Osteoarthritis
OMIM:184250	COL2A1	1280	HP:0000541	Retinal detachment
OMIM:613703	VSX2	338917	HP:0000006	Autosomal dominant inheritance
OMIM:613703	VSX2	338917	HP:0010984	Digenic inheritance
OMIM:613703	VSX2	338917	HP:0007766	Optic disc hypoplasia
OMIM:613703	VSX2	338917	HP:0000639	Nystagmus
OMIM:613703	VSX2	338917	HP:0000505	Visual impairment
OMIM:613703	VSX2	338917	HP:0000589	Coloboma
OMIM:613703	TENM3	55714	HP:0000006	Autosomal dominant inheritance
OMIM:613703	TENM3	55714	HP:0010984	Digenic inheritance
OMIM:613703	TENM3	55714	HP:0007766	Optic disc hypoplasia
OMIM:613703	TENM3	55714	HP:0000639	Nystagmus
OMIM:613703	TENM3	55714	HP:0000505	Visual impairment
OMIM:613703	TENM3	55714	HP:0000589	Coloboma
OMIM:613703	GDF3	9573	HP:0000006	Autosomal dominant inheritance
OMIM:613703	GDF3	9573	HP:0010984	Digenic inheritance
OMIM:613703	GDF3	9573	HP:0007766	Optic disc hypoplasia
OMIM:613703	GDF3	9573	HP:0000639	Nystagmus
OMIM:613703	GDF3	9573	HP:0000505	Visual impairment
OMIM:613703	GDF3	9573	HP:0000589	Coloboma
OMIM:613703	SHH	6469	HP:0000006	Autosomal dominant inheritance
OMIM:613703	SHH	6469	HP:0010984	Digenic inheritance
OMIM:613703	SHH	6469	HP:0007766	Optic disc hypoplasia
OMIM:613703	SHH	6469	HP:0000639	Nystagmus
OMIM:613703	SHH	6469	HP:0000505	Visual impairment
OMIM:613703	SHH	6469	HP:0000589	Coloboma
OMIM:613703	GDF6	392255	HP:0000006	Autosomal dominant inheritance
OMIM:613703	GDF6	392255	HP:0010984	Digenic inheritance
OMIM:613703	GDF6	392255	HP:0007766	Optic disc hypoplasia
OMIM:613703	GDF6	392255	HP:0000639	Nystagmus
OMIM:613703	GDF6	392255	HP:0000505	Visual impairment
OMIM:613703	GDF6	392255	HP:0000589	Coloboma
OMIM:613703	ABCB6	10058	HP:0000006	Autosomal dominant inheritance
OMIM:613703	ABCB6	10058	HP:0010984	Digenic inheritance
OMIM:613703	ABCB6	10058	HP:0007766	Optic disc hypoplasia
OMIM:613703	ABCB6	10058	HP:0000639	Nystagmus
OMIM:613703	ABCB6	10058	HP:0000505	Visual impairment
OMIM:613703	ABCB6	10058	HP:0000589	Coloboma
OMIM:613703	STRA6	64220	HP:0000006	Autosomal dominant inheritance
OMIM:613703	STRA6	64220	HP:0010984	Digenic inheritance
OMIM:613703	STRA6	64220	HP:0007766	Optic disc hypoplasia
OMIM:613703	STRA6	64220	HP:0000639	Nystagmus
OMIM:613703	STRA6	64220	HP:0000505	Visual impairment
OMIM:613703	STRA6	64220	HP:0000589	Coloboma
OMIM:613703	RBP4	5950	HP:0000006	Autosomal dominant inheritance
OMIM:613703	RBP4	5950	HP:0010984	Digenic inheritance
OMIM:613703	RBP4	5950	HP:0007766	Optic disc hypoplasia
OMIM:613703	RBP4	5950	HP:0000639	Nystagmus
OMIM:613703	RBP4	5950	HP:0000505	Visual impairment
OMIM:613703	RBP4	5950	HP:0000589	Coloboma
OMIM:174200	GLI3	2737	HP:0001159	Syndactyly
OMIM:174200	GLI3	2737	HP:0011304	Broad thumb
OMIM:174200	GLI3	2737	HP:0100258	Preaxial polydactyly
OMIM:174200	GLI3	2737	HP:0001162	Postaxial hand polydactyly
OMIM:174200	GLI3	2737	HP:0001199	Triphalangeal thumb
OMIM:212140	SLC22A5	6584	HP:0001988	Recurrent hypoglycemia
OMIM:212140	SLC22A5	6584	HP:0001508	Failure to thrive
OMIM:212140	SLC22A5	6584	HP:0002013	Vomiting
OMIM:212140	SLC22A5	6584	HP:0002910	Elevated hepatic transaminases
OMIM:212140	SLC22A5	6584	HP:0001635	Congestive heart failure
OMIM:212140	SLC22A5	6584	HP:0001298	Encephalopathy
OMIM:212140	SLC22A5	6584	HP:0001254	Lethargy
OMIM:212140	SLC22A5	6584	HP:0001640	Cardiomegaly
OMIM:212140	SLC22A5	6584	HP:0001706	Endocardial fibroelastosis
OMIM:212140	SLC22A5	6584	HP:0000007	Autosomal recessive inheritance
OMIM:212140	SLC22A5	6584	HP:0001324	Muscle weakness
OMIM:212140	SLC22A5	6584	HP:0001987	Hyperammonemia
OMIM:212140	SLC22A5	6584	HP:0001259	Coma
OMIM:212140	SLC22A5	6584	HP:0001397	Hepatic steatosis
OMIM:212140	SLC22A5	6584	HP:0001252	Muscular hypotonia
OMIM:212140	SLC22A5	6584	HP:0003198	Myopathy
OMIM:212140	SLC22A5	6584	HP:0001639	Hypertrophic cardiomyopathy
OMIM:212140	SLC22A5	6584	HP:0002240	Hepatomegaly
OMIM:248700	PIEZO2	63895	HP:0000175	Cleft palate
OMIM:248700	PIEZO2	63895	HP:0009473	Joint contracture of the hand
OMIM:248700	PIEZO2	63895	HP:0007018	Attention deficit hyperactivity disorder
OMIM:248700	PIEZO2	63895	HP:0001883	Talipes
OMIM:248700	PIEZO2	63895	HP:0000368	Low-set, posteriorly rotated ears
OMIM:248700	PIEZO2	63895	HP:0000316	Hypertelorism
OMIM:248700	PIEZO2	63895	HP:0001249	Intellectual disability
OMIM:248700	PIEZO2	63895	HP:0000766	Abnormality of the sternum
OMIM:248700	PIEZO2	63895	HP:0008678	Renal hypoplasia/aplasia
OMIM:248700	PIEZO2	63895	HP:0000028	Cryptorchidism
OMIM:248700	PIEZO2	63895	HP:0002650	Scoliosis
OMIM:248700	PIEZO2	63895	HP:0008897	Postnatal growth retardation
OMIM:248700	PIEZO2	63895	HP:0003312	Abnormal form of the vertebral bodies
OMIM:248700	PIEZO2	63895	HP:0002089	Pulmonary hypoplasia
OMIM:248700	PIEZO2	63895	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:248700	PIEZO2	63895	HP:0000054	Micropenis
OMIM:248700	PIEZO2	63895	HP:0000298	Mask-like facies
OMIM:248700	PIEZO2	63895	HP:0100490	Camptodactyly of finger
OMIM:248700	PIEZO2	63895	HP:0000238	Hydrocephalus
OMIM:248700	PIEZO2	63895	HP:0000347	Micrognathia
OMIM:248700	PIEZO2	63895	HP:0001511	Intrauterine growth retardation
OMIM:248700	PIEZO2	63895	HP:0002804	Arthrogryposis multiplex congenita
OMIM:248700	PIEZO2	63895	HP:0001166	Arachnodactyly
OMIM:248700	PIEZO2	63895	HP:0000470	Short neck
OMIM:248700	PIEZO2	63895	HP:0004322	Short stature
OMIM:248700	PIEZO2	63895	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
OMIM:248700	PIEZO2	63895	HP:0012385	Camptodactyly
OMIM:248700	PIEZO2	63895	HP:0001250	Seizures
OMIM:248700	PIEZO2	63895	HP:0000252	Microcephaly
OMIM:248700	PIEZO2	63895	HP:0002974	Radioulnar synostosis
OMIM:248700	PIEZO2	63895	HP:0000568	Microphthalmia
OMIM:248700	PIEZO2	63895	HP:0100627	Displacement of the external urethral meatus
OMIM:248700	PIEZO2	63895	HP:0001252	Muscular hypotonia
OMIM:248700	PIEZO2	63895	HP:0000160	Narrow mouth
OMIM:248700	PIEZO2	63895	HP:0000486	Strabismus
OMIM:248700	PIEZO2	63895	HP:0000768	Pectus carinatum
OMIM:248700	PIEZO2	63895	HP:0000218	High palate
OMIM:248700	PIEZO2	63895	HP:0002808	Kyphosis
OMIM:248700	PIEZO2	63895	HP:0000003	Multicystic kidney dysplasia
OMIM:248700	PIEZO2	63895	HP:0001274	Agenesis of corpus callosum
OMIM:248700	PIEZO2	63895	HP:0001629	Ventricular septal defect
OMIM:248700	PIEZO2	63895	HP:0000463	Anteverted nares
OMIM:248700	PIEZO2	63895	HP:0000047	Hypospadias
OMIM:248700	PIEZO2	63895	HP:0001762	Talipes equinovarus
OMIM:248700	PIEZO2	63895	HP:0002365	Hypoplasia of the brainstem
OMIM:248700	PIEZO2	63895	HP:0000508	Ptosis
OMIM:248700	PIEZO2	63895	HP:0001651	Dextrocardia
OMIM:248700	PIEZO2	63895	HP:0000023	Inguinal hernia
OMIM:248700	PIEZO2	63895	HP:0002021	Pyloric stenosis
OMIM:248700	PIEZO2	63895	HP:0003202	Skeletal muscle atrophy
OMIM:248700	PIEZO2	63895	HP:0000767	Pectus excavatum
OMIM:248700	PIEZO2	63895	HP:0001321	Cerebellar hypoplasia
OMIM:248700	PIEZO2	63895	HP:0002803	Congenital contracture
OMIM:248700	PIEZO2	63895	HP:0000581	Blepharophimosis
OMIM:248700	PIEZO2	63895	HP:0000007	Autosomal recessive inheritance
OMIM:248700	PIEZO2	63895	HP:0001305	Dandy-Walker malformation
OMIM:248700	PIEZO2	63895	HP:0000089	Renal hypoplasia
OMIM:248700	PIEZO2	63895	HP:0001696	Situs inversus totalis
OMIM:248700	PIEZO2	63895	HP:0100543	Cognitive impairment
OMIM:248700	PIEZO2	63895	HP:0000369	Low-set ears
OMIM:248700	PIEZO2	63895	HP:0000286	Epicanthus
OMIM:248700	PIEZO2	63895	HP:0000343	Long philtrum
OMIM:248700	PIEZO2	63895	HP:0001376	Limitation of joint mobility
OMIM:601098	LITAF	9516	HP:0002936	Distal sensory impairment
OMIM:601098	LITAF	9516	HP:0003431	Decreased motor nerve conduction velocity
OMIM:601098	LITAF	9516	HP:0001265	Hyporeflexia
OMIM:601098	LITAF	9516	HP:0001761	Pes cavus
OMIM:601098	LITAF	9516	HP:0003621	Juvenile onset
OMIM:601098	LITAF	9516	HP:0003383	Onion bulb formation
OMIM:601098	LITAF	9516	HP:0000006	Autosomal dominant inheritance
OMIM:601098	LITAF	9516	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:601098	LITAF	9516	HP:0002460	Distal muscle weakness
OMIM:601098	LITAF	9516	HP:0003693	Distal amyotrophy
OMIM:277610	COL2A1	1280	HP:0003417	Coronal cleft vertebrae
OMIM:277610	COL2A1	1280	HP:0000175	Cleft palate
OMIM:277610	COL2A1	1280	HP:0000520	Proptosis
OMIM:277610	COL2A1	1280	HP:0000347	Micrognathia
OMIM:277610	COL2A1	1280	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:277610	COL2A1	1280	HP:0005280	Depressed nasal bridge
OMIM:277610	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:277610	COL2A1	1280	HP:0000316	Hypertelorism
OMIM:277610	COL2A1	1280	HP:0008905	Rhizomelia
OMIM:277610	COL2A1	1280	HP:0000407	Sensorineural hearing impairment
OMIM:277610	COL2A1	1280	HP:0000201	Pierre-Robin sequence
OMIM:277610	COL2A1	1280	HP:0001263	Global developmental delay
OMIM:277610	COL11A2	1302	HP:0003417	Coronal cleft vertebrae
OMIM:277610	COL11A2	1302	HP:0000175	Cleft palate
OMIM:277610	COL11A2	1302	HP:0000520	Proptosis
OMIM:277610	COL11A2	1302	HP:0000347	Micrognathia
OMIM:277610	COL11A2	1302	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:277610	COL11A2	1302	HP:0005280	Depressed nasal bridge
OMIM:277610	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:277610	COL11A2	1302	HP:0000316	Hypertelorism
OMIM:277610	COL11A2	1302	HP:0008905	Rhizomelia
OMIM:277610	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:277610	COL11A2	1302	HP:0000201	Pierre-Robin sequence
OMIM:277610	COL11A2	1302	HP:0001263	Global developmental delay
OMIM:307000	L1CAM	3897	HP:0001249	Intellectual disability
OMIM:307000	L1CAM	3897	HP:0001376	Limitation of joint mobility
OMIM:307000	L1CAM	3897	HP:0100543	Cognitive impairment
OMIM:307000	L1CAM	3897	HP:0001274	Agenesis of corpus callosum
OMIM:307000	L1CAM	3897	HP:0001360	Holoprosencephaly
OMIM:307000	L1CAM	3897	HP:0000280	Coarse facial features
OMIM:307000	L1CAM	3897	HP:0001257	Spasticity
OMIM:307000	L1CAM	3897	HP:0000238	Hydrocephalus
OMIM:307000	L1CAM	3897	HP:0004374	Hemiplegia/hemiparesis
OMIM:307000	L1CAM	3897	HP:0001181	Adducted thumb
OMIM:307000	L1CAM	3897	HP:0001419	X-linked recessive inheritance
OMIM:307000	L1CAM	3897	HP:0000639	Nystagmus
OMIM:307000	L1CAM	3897	HP:0001258	Spastic paraplegia
OMIM:307000	L1CAM	3897	HP:0000256	Macrocephaly
OMIM:307000	L1CAM	3897	HP:0000486	Strabismus
OMIM:307000	L1CAM	3897	HP:0001250	Seizures
OMIM:615066	SPARC	6678	HP:0002757	Recurrent fractures
OMIM:615066	SPARC	6678	HP:0000007	Autosomal recessive inheritance
OMIM:615066	SPARC	6678	HP:0000938	Osteopenia
OMIM:615066	PPIB	5479	HP:0002757	Recurrent fractures
OMIM:615066	PPIB	5479	HP:0000007	Autosomal recessive inheritance
OMIM:615066	PPIB	5479	HP:0000938	Osteopenia
OMIM:615066	SERPINF1	5176	HP:0002757	Recurrent fractures
OMIM:615066	SERPINF1	5176	HP:0000007	Autosomal recessive inheritance
OMIM:615066	SERPINF1	5176	HP:0000938	Osteopenia
OMIM:615066	FKBP10	60681	HP:0002757	Recurrent fractures
OMIM:615066	FKBP10	60681	HP:0000007	Autosomal recessive inheritance
OMIM:615066	FKBP10	60681	HP:0000938	Osteopenia
OMIM:615066	CRTAP	10491	HP:0002757	Recurrent fractures
OMIM:615066	CRTAP	10491	HP:0000007	Autosomal recessive inheritance
OMIM:615066	CRTAP	10491	HP:0000938	Osteopenia
OMIM:615066	COL1A1	1277	HP:0002757	Recurrent fractures
OMIM:615066	COL1A1	1277	HP:0000007	Autosomal recessive inheritance
OMIM:615066	COL1A1	1277	HP:0000938	Osteopenia
OMIM:615066	SP7	121340	HP:0002757	Recurrent fractures
OMIM:615066	SP7	121340	HP:0000007	Autosomal recessive inheritance
OMIM:615066	SP7	121340	HP:0000938	Osteopenia
OMIM:615066	COL1A2	1278	HP:0002757	Recurrent fractures
OMIM:615066	COL1A2	1278	HP:0000007	Autosomal recessive inheritance
OMIM:615066	COL1A2	1278	HP:0000938	Osteopenia
OMIM:615066	TMEM38B	55151	HP:0002757	Recurrent fractures
OMIM:615066	TMEM38B	55151	HP:0000007	Autosomal recessive inheritance
OMIM:615066	TMEM38B	55151	HP:0000938	Osteopenia
OMIM:615066	WNT1	7471	HP:0002757	Recurrent fractures
OMIM:615066	WNT1	7471	HP:0000007	Autosomal recessive inheritance
OMIM:615066	WNT1	7471	HP:0000938	Osteopenia
OMIM:278250	ATP6V0A2	23545	HP:0000670	Carious teeth
OMIM:278250	ATP6V0A2	23545	HP:0001537	Umbilical hernia
OMIM:278250	ATP6V0A2	23545	HP:0000007	Autosomal recessive inheritance
OMIM:278250	ATP6V0A2	23545	HP:0000343	Long philtrum
OMIM:278250	ATP6V0A2	23545	HP:0000691	Microdontia
OMIM:278250	ATP6V0A2	23545	HP:0003100	Slender long bone
OMIM:278250	ATP6V0A2	23545	HP:0000582	Upslanted palpebral fissure
OMIM:278250	ATP6V0A2	23545	HP:0001250	Seizures
OMIM:278250	ATP6V0A2	23545	HP:0004322	Short stature
OMIM:278250	ATP6V0A2	23545	HP:0000253	Progressive microcephaly
OMIM:278250	ATP6V0A2	23545	HP:0000270	Delayed cranial suture closure
OMIM:278250	ATP6V0A2	23545	HP:0001631	Atria septal defect
OMIM:278250	ATP6V0A2	23545	HP:0100543	Cognitive impairment
OMIM:278250	ATP6V0A2	23545	HP:0001799	Short nail
OMIM:278250	ATP6V0A2	23545	HP:0000767	Pectus excavatum
OMIM:278250	ATP6V0A2	23545	HP:0001382	Joint hypermobility
OMIM:278250	ATP6V0A2	23545	HP:0002812	Coxa vara
OMIM:278250	ATP6V0A2	23545	HP:0000369	Low-set ears
OMIM:278250	ATP6V0A2	23545	HP:0000023	Inguinal hernia
OMIM:278250	ATP6V0A2	23545	HP:0011995	Atrial septal aneurysm
OMIM:278250	ATP6V0A2	23545	HP:0002808	Kyphosis
OMIM:278250	ATP6V0A2	23545	HP:0008070	Sparse hair
OMIM:278250	ATP6V0A2	23545	HP:0007495	Prematurely aged appearance
OMIM:278250	ATP6V0A2	23545	HP:0000252	Microcephaly
OMIM:278250	ATP6V0A2	23545	HP:0100790	Hernia
OMIM:278250	ATP6V0A2	23545	HP:0001763	Pes planus
OMIM:278250	ATP6V0A2	23545	HP:0001374	Congenital hip dislocation
OMIM:278250	ATP6V0A2	23545	HP:0007703	Abnormality of retinal pigmentation
OMIM:278250	ATP6V0A2	23545	HP:0000750	Delayed speech and language development
OMIM:278250	ATP6V0A2	23545	HP:0000319	Smooth philtrum
OMIM:278250	ATP6V0A2	23545	HP:0002645	Wormian bones
OMIM:278250	ATP6V0A2	23545	HP:0001249	Intellectual disability
OMIM:278250	ATP6V0A2	23545	HP:0001252	Muscular hypotonia
OMIM:278250	ATP6V0A2	23545	HP:0003202	Skeletal muscle atrophy
OMIM:278250	ATP6V0A2	23545	HP:0000684	Delayed eruption of teeth
OMIM:278250	ATP6V0A2	23545	HP:0000648	Optic atrophy
OMIM:278250	ATP6V0A2	23545	HP:0000269	Prominent occiput
OMIM:278250	ATP6V0A2	23545	HP:0009124	Abnormality of adipose tissue
OMIM:278250	ATP6V0A2	23545	HP:0001508	Failure to thrive
OMIM:278250	ATP6V0A2	23545	HP:0000286	Epicanthus
OMIM:278250	ATP6V0A2	23545	HP:0100679	Lack of skin elasticity
OMIM:278250	ATP6V0A2	23545	HP:0000938	Osteopenia
OMIM:278250	ATP6V0A2	23545	HP:0000316	Hypertelorism
OMIM:278250	ATP6V0A2	23545	HP:0003272	Abnormality of the hip bone
OMIM:278250	ATP6V0A2	23545	HP:0009004	Hypoplasia of the musculature
OMIM:278250	ATP6V0A2	23545	HP:0000431	Wide nasal bridge
OMIM:278250	ATP6V0A2	23545	HP:0000958	Dry skin
OMIM:278250	ATP6V0A2	23545	HP:0000218	High palate
OMIM:278250	ATP6V0A2	23545	HP:0001611	Nasal speech
OMIM:278250	ATP6V0A2	23545	HP:0006482	Abnormality of dental morphology
OMIM:278250	ATP6V0A2	23545	HP:0001596	Alopecia
OMIM:278250	ATP6V0A2	23545	HP:0003691	Scapular winging
OMIM:278250	ATP6V0A2	23545	HP:0001762	Talipes equinovarus
OMIM:278250	ATP6V0A2	23545	HP:0000272	Malar flattening
OMIM:278250	ATP6V0A2	23545	HP:0200042	Skin ulcer
OMIM:278250	ATP6V0A2	23545	HP:0000494	Downslanted palpebral fissures
OMIM:278250	ATP6V0A2	23545	HP:0000324	Facial asymmetry
OMIM:278250	ATP6V0A2	23545	HP:0000545	Myopia
OMIM:278250	ATP6V0A2	23545	HP:0000028	Cryptorchidism
OMIM:278250	ATP6V0A2	23545	HP:0002650	Scoliosis
OMIM:278250	ATP6V0A2	23545	HP:0000973	Cutis laxa
OMIM:278250	ATP6V0A2	23545	HP:0001511	Intrauterine growth retardation
ORPHANET:96147	EHMT1	79813	HP:0000272	Malar flattening
ORPHANET:96147	EHMT1	79813	HP:0000316	Hypertelorism
ORPHANET:96147	EHMT1	79813	HP:0000083	Renal insufficiency
ORPHANET:96147	EHMT1	79813	HP:0002553	Highly arched eyebrow
ORPHANET:96147	EHMT1	79813	HP:0000157	Abnormality of the tongue
ORPHANET:96147	EHMT1	79813	HP:0001636	Tetralogy of Fallot
ORPHANET:96147	EHMT1	79813	HP:0001646	Abnormality of the aortic valve
ORPHANET:96147	EHMT1	79813	HP:0002119	Ventriculomegaly
ORPHANET:96147	EHMT1	79813	HP:0000365	Hearing impairment
ORPHANET:96147	EHMT1	79813	HP:0002360	Sleep disturbance
ORPHANET:96147	EHMT1	79813	HP:0003196	Short nose
ORPHANET:96147	EHMT1	79813	HP:0001250	Seizures
ORPHANET:96147	EHMT1	79813	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHANET:96147	EHMT1	79813	HP:0000252	Microcephaly
ORPHANET:96147	EHMT1	79813	HP:0000028	Cryptorchidism
ORPHANET:96147	EHMT1	79813	HP:0000664	Synophrys
ORPHANET:96147	EHMT1	79813	HP:0002714	Downturned corners of mouth
ORPHANET:96147	EHMT1	79813	HP:0001537	Umbilical hernia
ORPHANET:96147	EHMT1	79813	HP:0100543	Cognitive impairment
ORPHANET:96147	EHMT1	79813	HP:0000717	Autism
ORPHANET:96147	EHMT1	79813	HP:0001679	Abnormality of the aorta
ORPHANET:96147	EHMT1	79813	HP:0002120	Cerebral cortical atrophy
ORPHANET:96147	EHMT1	79813	HP:0000232	Everted lower lip vermilion
ORPHANET:96147	EHMT1	79813	HP:0000076	Vesicoureteral reflux
ORPHANET:96147	EHMT1	79813	HP:0002167	Neurological speech impairment
ORPHANET:96147	EHMT1	79813	HP:0001513	Obesity
ORPHANET:96147	EHMT1	79813	HP:0000463	Anteverted nares
ORPHANET:96147	EHMT1	79813	HP:0002648	Abnormality of calvarial morphology
ORPHANET:96147	EHMT1	79813	HP:0008736	Hypoplasia of penis
ORPHANET:96147	EHMT1	79813	HP:0001671	Abnormality of the cardiac septa
ORPHANET:96147	EHMT1	79813	HP:0001252	Muscular hypotonia
OMIM:212550	SIX6	4990	HP:0000541	Retinal detachment
OMIM:212550	SIX6	4990	HP:0000568	Microphthalmia
OMIM:212550	SIX6	4990	HP:0000616	Miosis
OMIM:212550	SIX6	4990	HP:0000556	Retinal dystrophy
OMIM:212550	SIX6	4990	HP:0000007	Autosomal recessive inheritance
OMIM:212550	SIX6	4990	HP:0000501	Glaucoma
OMIM:212550	SIX6	4990	HP:0000567	Chorioretinal coloboma
OMIM:212550	SIX6	4990	HP:0000612	Iris coloboma
OMIM:212550	SIX6	4990	HP:0000518	Cataract
OMIM:605192	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:605192	DIAPH1	1729	HP:0000405	Conductive hearing impairment
OMIM:605192	DIAPH1	1729	HP:0004467	Preauricular pit
OMIM:605192	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:605192	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:605192	CEACAM16	388551	HP:0000405	Conductive hearing impairment
OMIM:605192	CEACAM16	388551	HP:0004467	Preauricular pit
OMIM:605192	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:605192	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:605192	SLC17A8	246213	HP:0000405	Conductive hearing impairment
OMIM:605192	SLC17A8	246213	HP:0004467	Preauricular pit
OMIM:605192	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:605192	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:605192	TJP2	9414	HP:0000405	Conductive hearing impairment
OMIM:605192	TJP2	9414	HP:0004467	Preauricular pit
OMIM:605192	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:605192	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:605192	ACTG1	71	HP:0000405	Conductive hearing impairment
OMIM:605192	ACTG1	71	HP:0004467	Preauricular pit
OMIM:605192	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:605192	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:605192	CCDC50	152137	HP:0000405	Conductive hearing impairment
OMIM:605192	CCDC50	152137	HP:0004467	Preauricular pit
OMIM:605192	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:605192	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:605192	MIR96	407053	HP:0000405	Conductive hearing impairment
OMIM:605192	MIR96	407053	HP:0004467	Preauricular pit
OMIM:605192	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:605192	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:605192	GJB2	2706	HP:0000405	Conductive hearing impairment
OMIM:605192	GJB2	2706	HP:0004467	Preauricular pit
OMIM:605192	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:605192	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:605192	POU4F3	5459	HP:0000405	Conductive hearing impairment
OMIM:605192	POU4F3	5459	HP:0004467	Preauricular pit
OMIM:605192	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:605192	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:605192	GJB3	2707	HP:0000405	Conductive hearing impairment
OMIM:605192	GJB3	2707	HP:0004467	Preauricular pit
OMIM:605192	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:605192	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:605192	MYH9	4627	HP:0000405	Conductive hearing impairment
OMIM:605192	MYH9	4627	HP:0004467	Preauricular pit
OMIM:605192	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:605192	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:605192	CRYM	1428	HP:0000405	Conductive hearing impairment
OMIM:605192	CRYM	1428	HP:0004467	Preauricular pit
OMIM:605192	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:605192	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:605192	COL11A2	1302	HP:0000405	Conductive hearing impairment
OMIM:605192	COL11A2	1302	HP:0004467	Preauricular pit
OMIM:605192	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:605192	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:605192	EYA4	2070	HP:0000405	Conductive hearing impairment
OMIM:605192	EYA4	2070	HP:0004467	Preauricular pit
OMIM:605192	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:605192	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:605192	DFNA5	1687	HP:0000405	Conductive hearing impairment
OMIM:605192	DFNA5	1687	HP:0004467	Preauricular pit
OMIM:605192	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:605192	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:605192	DIAPH3	81624	HP:0000405	Conductive hearing impairment
OMIM:605192	DIAPH3	81624	HP:0004467	Preauricular pit
OMIM:605192	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:605192	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:605192	TMC1	117531	HP:0000405	Conductive hearing impairment
OMIM:605192	TMC1	117531	HP:0004467	Preauricular pit
OMIM:605192	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:605192	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:605192	COCH	1690	HP:0000405	Conductive hearing impairment
OMIM:605192	COCH	1690	HP:0004467	Preauricular pit
OMIM:605192	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:605192	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:605192	OSBPL2	9885	HP:0000405	Conductive hearing impairment
OMIM:605192	OSBPL2	9885	HP:0004467	Preauricular pit
OMIM:605192	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:605192	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:605192	SIX1	6495	HP:0000405	Conductive hearing impairment
OMIM:605192	SIX1	6495	HP:0004467	Preauricular pit
OMIM:605192	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:605192	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:605192	TECTA	7007	HP:0000405	Conductive hearing impairment
OMIM:605192	TECTA	7007	HP:0004467	Preauricular pit
OMIM:605192	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:605192	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:605192	MYO1A	4640	HP:0000405	Conductive hearing impairment
OMIM:605192	MYO1A	4640	HP:0004467	Preauricular pit
OMIM:605192	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:605192	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:605192	MYO1C	4641	HP:0000405	Conductive hearing impairment
OMIM:605192	MYO1C	4641	HP:0004467	Preauricular pit
OMIM:605192	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:605192	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:605192	MYO6	4646	HP:0000405	Conductive hearing impairment
OMIM:605192	MYO6	4646	HP:0004467	Preauricular pit
OMIM:605192	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:605192	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:605192	MYO7A	4647	HP:0000405	Conductive hearing impairment
OMIM:605192	MYO7A	4647	HP:0004467	Preauricular pit
OMIM:605192	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:605192	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:605192	GRHL2	79977	HP:0000405	Conductive hearing impairment
OMIM:605192	GRHL2	79977	HP:0004467	Preauricular pit
OMIM:605192	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:605192	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:605192	DIABLO	56616	HP:0000405	Conductive hearing impairment
OMIM:605192	DIABLO	56616	HP:0004467	Preauricular pit
OMIM:605192	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:605192	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:605192	MYH14	79784	HP:0000405	Conductive hearing impairment
OMIM:605192	MYH14	79784	HP:0004467	Preauricular pit
OMIM:605192	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:605192	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:605192	P2RX2	22953	HP:0000405	Conductive hearing impairment
OMIM:605192	P2RX2	22953	HP:0004467	Preauricular pit
OMIM:605192	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:605192	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:605192	WFS1	7466	HP:0000405	Conductive hearing impairment
OMIM:605192	WFS1	7466	HP:0004467	Preauricular pit
OMIM:605192	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:605192	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:605192	TNC	3371	HP:0000405	Conductive hearing impairment
OMIM:605192	TNC	3371	HP:0004467	Preauricular pit
OMIM:605192	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:605192	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:605192	KCNQ4	9132	HP:0000405	Conductive hearing impairment
OMIM:605192	KCNQ4	9132	HP:0004467	Preauricular pit
OMIM:605192	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:605192	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:605192	HOMER2	9455	HP:0000405	Conductive hearing impairment
OMIM:605192	HOMER2	9455	HP:0004467	Preauricular pit
OMIM:605192	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:605192	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:605192	GJB6	10804	HP:0000405	Conductive hearing impairment
OMIM:605192	GJB6	10804	HP:0004467	Preauricular pit
OMIM:605192	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:605192	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:605192	TBC1D24	57465	HP:0000405	Conductive hearing impairment
OMIM:605192	TBC1D24	57465	HP:0004467	Preauricular pit
OMIM:605192	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:154700	FBN1	2200	HP:0001765	Hammertoe
OMIM:154700	FBN1	2200	HP:0000276	Long face
OMIM:154700	FBN1	2200	HP:0000518	Cataract
OMIM:154700	FBN1	2200	HP:0000098	Tall stature
OMIM:154700	FBN1	2200	HP:0000577	Exotropia
OMIM:154700	FBN1	2200	HP:0000490	Deeply set eye
OMIM:154700	FBN1	2200	HP:0000268	Dolichocephaly
OMIM:154700	FBN1	2200	HP:0002816	Genu recurvatum
OMIM:154700	FBN1	2200	HP:0000494	Downslanted palpebral fissures
OMIM:154700	FBN1	2200	HP:0001382	Joint hypermobility
OMIM:154700	FBN1	2200	HP:0001761	Pes cavus
OMIM:154700	FBN1	2200	HP:0001763	Pes planus
OMIM:154700	FBN1	2200	HP:0000541	Retinal detachment
OMIM:154700	FBN1	2200	HP:0001635	Congestive heart failure
OMIM:154700	FBN1	2200	HP:0004927	Pulmonary artery dilatation
OMIM:154700	FBN1	2200	HP:0000768	Pectus carinatum
OMIM:154700	FBN1	2200	HP:0001065	Striae distensae
OMIM:154700	FBN1	2200	HP:0002097	Emphysema
OMIM:154700	FBN1	2200	HP:0000189	Narrow palate
OMIM:154700	FBN1	2200	HP:0000501	Glaucoma
OMIM:154700	FBN1	2200	HP:0001548	Overgrowth
OMIM:154700	FBN1	2200	HP:0000218	High palate
OMIM:154700	FBN1	2200	HP:0007800	Increased axial globe length
OMIM:154700	FBN1	2200	HP:0001659	Aortic regurgitation
OMIM:154700	FBN1	2200	HP:0000272	Malar flattening
OMIM:154700	FBN1	2200	HP:0001002	Decreased subcutaneous fat
OMIM:154700	FBN1	2200	HP:0000678	Dental crowding
OMIM:154700	FBN1	2200	HP:0000275	Narrow face
OMIM:154700	FBN1	2200	HP:0000347	Micrognathia
OMIM:154700	FBN1	2200	HP:0001371	Flexion contracture
OMIM:154700	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:154700	FBN1	2200	HP:0002751	Kyphoscoliosis
OMIM:154700	FBN1	2200	HP:0000565	Esotropia
OMIM:154700	FBN1	2200	HP:0000545	Myopia
OMIM:154700	FBN1	2200	HP:0000767	Pectus excavatum
OMIM:154700	FBN1	2200	HP:0000278	Retrognathia
OMIM:154700	FBN1	2200	HP:0002631	Ascending aortic aneurysm
OMIM:154700	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:154700	FBN1	2200	HP:0001653	Mitral regurgitation
OMIM:154700	FBN1	2200	HP:0001083	Ectopia lentis
OMIM:154700	FBN1	2200	HP:0001166	Arachnodactyly
OMIM:193530	EVC2	132884	HP:0001156	Brachydactyly syndrome
OMIM:193530	EVC2	132884	HP:0001162	Postaxial hand polydactyly
OMIM:193530	EVC2	132884	HP:0004209	Clinodactyly of the 5th finger
OMIM:193530	EVC2	132884	HP:0009804	Reduced number of teeth
OMIM:193530	EVC2	132884	HP:0006315	Single median maxillary incisor
OMIM:193530	EVC2	132884	HP:0001800	Hypoplastic toenails
OMIM:193530	EVC2	132884	HP:0001792	Small nail
OMIM:193530	EVC2	132884	HP:0004279	Short palm
OMIM:193530	EVC2	132884	HP:0006482	Abnormality of dental morphology
OMIM:193530	EVC2	132884	HP:0004322	Short stature
OMIM:193530	EVC2	132884	HP:0009738	Abnormality of the antihelix
OMIM:193530	EVC2	132884	HP:0000006	Autosomal dominant inheritance
OMIM:193530	EVC2	132884	HP:0000601	Hypotelorism
OMIM:193530	EVC2	132884	HP:0001231	Abnormality of the fingernails
OMIM:193530	EVC2	132884	HP:0006288	Advanced eruption of teeth
OMIM:193530	EVC2	132884	HP:0002164	Nail dysplasia
OMIM:193530	EVC2	132884	HP:0002006	Facial cleft
OMIM:193530	EVC	2121	HP:0001156	Brachydactyly syndrome
OMIM:193530	EVC	2121	HP:0001162	Postaxial hand polydactyly
OMIM:193530	EVC	2121	HP:0004209	Clinodactyly of the 5th finger
OMIM:193530	EVC	2121	HP:0009804	Reduced number of teeth
OMIM:193530	EVC	2121	HP:0006315	Single median maxillary incisor
OMIM:193530	EVC	2121	HP:0001800	Hypoplastic toenails
OMIM:193530	EVC	2121	HP:0001792	Small nail
OMIM:193530	EVC	2121	HP:0004279	Short palm
OMIM:193530	EVC	2121	HP:0006482	Abnormality of dental morphology
OMIM:193530	EVC	2121	HP:0004322	Short stature
OMIM:193530	EVC	2121	HP:0009738	Abnormality of the antihelix
OMIM:193530	EVC	2121	HP:0000006	Autosomal dominant inheritance
OMIM:193530	EVC	2121	HP:0000601	Hypotelorism
OMIM:193530	EVC	2121	HP:0001231	Abnormality of the fingernails
OMIM:193530	EVC	2121	HP:0006288	Advanced eruption of teeth
OMIM:193530	EVC	2121	HP:0002164	Nail dysplasia
OMIM:193530	EVC	2121	HP:0002006	Facial cleft
OMIM:230900	GBA	2629	HP:0001903	Anemia
OMIM:230900	GBA	2629	HP:0002240	Hepatomegaly
OMIM:230900	GBA	2629	HP:0001371	Flexion contracture
OMIM:230900	GBA	2629	HP:0000007	Autosomal recessive inheritance
OMIM:230900	GBA	2629	HP:0011968	Feeding difficulties
OMIM:230900	GBA	2629	HP:0001276	Hypertonia
OMIM:230900	GBA	2629	HP:0001347	Hyperreflexia
OMIM:230900	GBA	2629	HP:0000486	Strabismus
OMIM:230900	GBA	2629	HP:0002793	Abnormal pattern of respiration
OMIM:230900	GBA	2629	HP:0001744	Splenomegaly
OMIM:230900	GBA	2629	HP:0002015	Dysphagia
OMIM:230900	GBA	2629	HP:0002059	Cerebral atrophy
OMIM:230900	GBA	2629	HP:0002483	Bulbar signs
OMIM:230900	GBA	2629	HP:0000597	Ophthalmoparesis
OMIM:230900	GBA	2629	HP:0000565	Esotropia
OMIM:230900	GBA	2629	HP:0002344	Progressive neurologic deterioration
OMIM:230900	GBA	2629	HP:0001508	Failure to thrive
OMIM:230900	GBA	2629	HP:0001538	Protuberant abdomen
OMIM:230900	GBA	2629	HP:0001645	Sudden cardiac death
OMIM:230900	GBA	2629	HP:0001250	Seizures
OMIM:230900	GBA	2629	HP:0002104	Apnea
OMIM:230900	GBA	2629	HP:0001873	Thrombocytopenia
OMIM:230900	GBA	2629	HP:0001263	Global developmental delay
OMIM:230900	GBA	2629	HP:0002205	Recurrent respiratory infections
OMIM:230900	GBA	2629	HP:0002093	Respiratory insufficiency
OMIM:230900	GBA	2629	HP:0001257	Spasticity
OMIM:230900	GBA	2629	HP:0001824	Weight loss
OMIM:230900	GBA	2629	HP:0000657	Oculomotor apraxia
OMIM:230900	GBA	2629	HP:0002063	Rigidity
OMIM:117300	ITM2B	9445	HP:0001257	Spasticity
OMIM:117300	ITM2B	9445	HP:0000365	Hearing impairment
OMIM:117300	ITM2B	9445	HP:0000726	Dementia
OMIM:117300	ITM2B	9445	HP:0001251	Ataxia
OMIM:117300	ITM2B	9445	HP:0001115	Posterior polar cataract
OMIM:117300	ITM2B	9445	HP:0000709	Psychosis
OMIM:117300	ITM2B	9445	HP:0000006	Autosomal dominant inheritance
OMIM:260600	AIMP1	9255	HP:0001522	Death in infancy
OMIM:260600	AIMP1	9255	HP:0001622	Premature birth
OMIM:260600	AIMP1	9255	HP:0002415	Leukodystrophy
OMIM:260600	AIMP1	9255	HP:0002751	Kyphoscoliosis
OMIM:260600	AIMP1	9255	HP:0001508	Failure to thrive
OMIM:260600	AIMP1	9255	HP:0007256	Abnormal pyramidal signs
OMIM:260600	AIMP1	9255	HP:0000252	Microcephaly
OMIM:260600	AIMP1	9255	HP:0002804	Arthrogryposis multiplex congenita
OMIM:260600	AIMP1	9255	HP:0002313	Spastic paraparesis
OMIM:260600	AIMP1	9255	HP:0002353	EEG abnormality
OMIM:260600	AIMP1	9255	HP:0000280	Coarse facial features
OMIM:260600	AIMP1	9255	HP:0005876	Progressive flexion contractures
OMIM:260600	AIMP1	9255	HP:0001263	Global developmental delay
OMIM:260600	AIMP1	9255	HP:0003676	Progressive
OMIM:260600	AIMP1	9255	HP:0000007	Autosomal recessive inheritance
OMIM:260600	AIMP1	9255	HP:0001250	Seizures
OMIM:260600	AIMP1	9255	HP:0008936	Muscular hypotonia of the trunk
OMIM:260600	AIMP1	9255	HP:0000505	Visual impairment
OMIM:276820	WNT7A	7476	HP:0002992	Abnormality of the tibia
OMIM:276820	WNT7A	7476	HP:0003041	Humeroradial synostosis
OMIM:276820	WNT7A	7476	HP:0000175	Cleft palate
OMIM:276820	WNT7A	7476	HP:0000218	High palate
OMIM:276820	WNT7A	7476	HP:0002575	Tracheoesophageal fistula
OMIM:276820	WNT7A	7476	HP:0000151	Aplasia of the uterus
OMIM:276820	WNT7A	7476	HP:0000470	Short neck
OMIM:276820	WNT7A	7476	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:276820	WNT7A	7476	HP:0000189	Narrow palate
OMIM:276820	WNT7A	7476	HP:0002991	Abnormality of the fibula
OMIM:276820	WNT7A	7476	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
OMIM:276820	WNT7A	7476	HP:0001798	Anonychia
OMIM:276820	WNT7A	7476	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
OMIM:276820	WNT7A	7476	HP:0000347	Micrognathia
OMIM:276820	WNT7A	7476	HP:0002436	Occipital meningocele
OMIM:276820	WNT7A	7476	HP:0003498	Disproportionate short stature
OMIM:276820	WNT7A	7476	HP:0001789	Hydrops fetalis
OMIM:276820	WNT7A	7476	HP:0001171	Split hand
OMIM:276820	WNT7A	7476	HP:0000008	Abnormality of female internal genitalia
OMIM:276820	WNT7A	7476	HP:0000377	Abnormality of the pinna
OMIM:276820	WNT7A	7476	HP:0001552	Barrel-shaped chest
OMIM:276820	WNT7A	7476	HP:0002983	Micromelia
OMIM:276820	WNT7A	7476	HP:0000276	Long face
OMIM:276820	WNT7A	7476	HP:0001231	Abnormality of the fingernails
OMIM:276820	WNT7A	7476	HP:0003063	Abnormality of the humerus
OMIM:276820	WNT7A	7476	HP:0002937	Hemivertebrae
OMIM:276820	WNT7A	7476	HP:0005613	Aplasia/hypoplasia of the femur
OMIM:276820	WNT7A	7476	HP:0001773	Short foot
OMIM:276820	WNT7A	7476	HP:0000028	Cryptorchidism
OMIM:276820	WNT7A	7476	HP:0003196	Short nose
OMIM:276820	WNT7A	7476	HP:0004322	Short stature
OMIM:276820	WNT7A	7476	HP:0002997	Abnormality of the ulna
OMIM:276820	WNT7A	7476	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
OMIM:276820	WNT7A	7476	HP:0100589	Urogenital fistula
OMIM:276820	WNT7A	7476	HP:0000047	Hypospadias
OMIM:276820	WNT7A	7476	HP:0000369	Low-set ears
OMIM:276820	WNT7A	7476	HP:0000286	Epicanthus
OMIM:276820	WNT7A	7476	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
OMIM:276820	WNT7A	7476	HP:0002827	Hip dislocation
OMIM:276820	WNT7A	7476	HP:0000431	Wide nasal bridge
OMIM:276820	WNT7A	7476	HP:0002980	Femoral bowing
OMIM:276820	WNT7A	7476	HP:0002984	Hypoplasia of the radius
OMIM:276820	WNT7A	7476	HP:0002557	Hypoplastic nipples
OMIM:276820	WNT7A	7476	HP:0001883	Talipes
OMIM:276820	WNT7A	7476	HP:0006487	Bowing of the long bones
OMIM:276820	WNT7A	7476	HP:0008736	Hypoplasia of penis
OMIM:276820	WNT7A	7476	HP:0000007	Autosomal recessive inheritance
OMIM:276820	WNT7A	7476	HP:0006501	Aplasia/Hypoplasia of the radius
OMIM:276820	WNT7A	7476	HP:0000046	Scrotal hypoplasia
OMIM:276820	WNT7A	7476	HP:0000768	Pectus carinatum
OMIM:276820	WNT7A	7476	HP:0000916	Broad clavicles
OMIM:276820	WNT7A	7476	HP:0001511	Intrauterine growth retardation
OMIM:276820	WNT7A	7476	HP:0006502	Aplasia/Hypoplasia involving the carpal bones
OMIM:276820	WNT7A	7476	HP:0002987	Elbow flexion contracture
OMIM:276820	WNT7A	7476	HP:0002986	Radial bowing
OMIM:276820	WNT7A	7476	HP:0009104	Aplasia/Hypoplasia of the pubic bone
OMIM:276820	WNT7A	7476	HP:0002435	Meningocele
OMIM:266900	WDR19	57728	HP:0003774	Stage 5 chronic kidney disease
OMIM:266900	WDR19	57728	HP:0001425	Heterogeneous
OMIM:266900	WDR19	57728	HP:0000090	Nephronophthisis
OMIM:266900	WDR19	57728	HP:0001903	Anemia
OMIM:266900	WDR19	57728	HP:0000007	Autosomal recessive inheritance
OMIM:266900	CEP164	22897	HP:0003774	Stage 5 chronic kidney disease
OMIM:266900	CEP164	22897	HP:0001425	Heterogeneous
OMIM:266900	CEP164	22897	HP:0000090	Nephronophthisis
OMIM:266900	CEP164	22897	HP:0001903	Anemia
OMIM:266900	CEP164	22897	HP:0000007	Autosomal recessive inheritance
OMIM:266900	TRAF3IP1	26146	HP:0003774	Stage 5 chronic kidney disease
OMIM:266900	TRAF3IP1	26146	HP:0001425	Heterogeneous
OMIM:266900	TRAF3IP1	26146	HP:0000090	Nephronophthisis
OMIM:266900	TRAF3IP1	26146	HP:0001903	Anemia
OMIM:266900	TRAF3IP1	26146	HP:0000007	Autosomal recessive inheritance
OMIM:266900	NPHP1	4867	HP:0003774	Stage 5 chronic kidney disease
OMIM:266900	NPHP1	4867	HP:0001425	Heterogeneous
OMIM:266900	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:266900	NPHP1	4867	HP:0001903	Anemia
OMIM:266900	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:266900	NPHP4	261734	HP:0003774	Stage 5 chronic kidney disease
OMIM:266900	NPHP4	261734	HP:0001425	Heterogeneous
OMIM:266900	NPHP4	261734	HP:0000090	Nephronophthisis
OMIM:266900	NPHP4	261734	HP:0001903	Anemia
OMIM:266900	NPHP4	261734	HP:0000007	Autosomal recessive inheritance
OMIM:266900	SDCCAG8	10806	HP:0003774	Stage 5 chronic kidney disease
OMIM:266900	SDCCAG8	10806	HP:0001425	Heterogeneous
OMIM:266900	SDCCAG8	10806	HP:0000090	Nephronophthisis
OMIM:266900	SDCCAG8	10806	HP:0001903	Anemia
OMIM:266900	SDCCAG8	10806	HP:0000007	Autosomal recessive inheritance
OMIM:266900	NPHP3	27031	HP:0003774	Stage 5 chronic kidney disease
OMIM:266900	NPHP3	27031	HP:0001425	Heterogeneous
OMIM:266900	NPHP3	27031	HP:0000090	Nephronophthisis
OMIM:266900	NPHP3	27031	HP:0001903	Anemia
OMIM:266900	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:266900	CEP290	80184	HP:0003774	Stage 5 chronic kidney disease
OMIM:266900	CEP290	80184	HP:0001425	Heterogeneous
OMIM:266900	CEP290	80184	HP:0000090	Nephronophthisis
OMIM:266900	CEP290	80184	HP:0001903	Anemia
OMIM:266900	CEP290	80184	HP:0000007	Autosomal recessive inheritance
OMIM:266900	IQCB1	9657	HP:0003774	Stage 5 chronic kidney disease
OMIM:266900	IQCB1	9657	HP:0001425	Heterogeneous
OMIM:266900	IQCB1	9657	HP:0000090	Nephronophthisis
OMIM:266900	IQCB1	9657	HP:0001903	Anemia
OMIM:266900	IQCB1	9657	HP:0000007	Autosomal recessive inheritance
OMIM:266900	INVS	27130	HP:0003774	Stage 5 chronic kidney disease
OMIM:266900	INVS	27130	HP:0001425	Heterogeneous
OMIM:266900	INVS	27130	HP:0000090	Nephronophthisis
OMIM:266900	INVS	27130	HP:0001903	Anemia
OMIM:266900	INVS	27130	HP:0000007	Autosomal recessive inheritance
OMIM:516030	COX1	4512	HP:0001427	Mitochondrial inheritance
OMIM:516030	COX1	4512	HP:0002315	Headache
OMIM:516030	COX1	4512	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:516030	COX1	4512	HP:0000543	Optic disc pallor
OMIM:516030	COX1	4512	HP:0003674	Onset
OMIM:602433	SETX	23064	HP:0003487	Babinski sign
OMIM:602433	SETX	23064	HP:0003677	Slow progression
OMIM:602433	SETX	23064	HP:0002460	Distal muscle weakness
OMIM:602433	SETX	23064	HP:0000006	Autosomal dominant inheritance
OMIM:602433	SETX	23064	HP:0001347	Hyperreflexia
OMIM:602433	SETX	23064	HP:0002169	Clonus
OMIM:602433	SETX	23064	HP:0002398	Degeneration of anterior horn cells
OMIM:602433	SETX	23064	HP:0001761	Pes cavus
OMIM:602433	SETX	23064	HP:0002127	Abnormal upper motor neuron morphology
OMIM:602433	SETX	23064	HP:0002355	Difficulty walking
OMIM:602433	SETX	23064	HP:0002366	Abnormal lower motor neuron morphology
OMIM:602433	SETX	23064	HP:0007354	Amyotrophic lateral sclerosis
OMIM:276950	PTEN	5728	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:276950	PTEN	5728	HP:0009777	Absent thumb
OMIM:276950	PTEN	5728	HP:0000089	Renal hypoplasia
OMIM:276950	PTEN	5728	HP:0000238	Hydrocephalus
OMIM:276950	PTEN	5728	HP:0002878	Respiratory failure
OMIM:276950	PTEN	5728	HP:0002023	Anal atresia
OMIM:276950	PTEN	5728	HP:0003826	Stillbirth
OMIM:276950	PTEN	5728	HP:0003468	Abnormality of the vertebrae
OMIM:276950	FANCB	2187	HP:0030680	Abnormality of cardiovascular system morphology
OMIM:276950	FANCB	2187	HP:0009777	Absent thumb
OMIM:276950	FANCB	2187	HP:0000089	Renal hypoplasia
OMIM:276950	FANCB	2187	HP:0000238	Hydrocephalus
OMIM:276950	FANCB	2187	HP:0002878	Respiratory failure
OMIM:276950	FANCB	2187	HP:0002023	Anal atresia
OMIM:276950	FANCB	2187	HP:0003826	Stillbirth
OMIM:276950	FANCB	2187	HP:0003468	Abnormality of the vertebrae
OMIM:612437	CSTB	1476	HP:0003487	Babinski sign
OMIM:612437	CSTB	1476	HP:0002123	Generalized myoclonic seizures
OMIM:612437	CSTB	1476	HP:0010819	Atonic seizures
OMIM:612437	CSTB	1476	HP:0001310	Dysmetria
OMIM:612437	CSTB	1476	HP:0001337	Tremor
OMIM:612437	CSTB	1476	HP:0003676	Progressive
OMIM:612437	CSTB	1476	HP:0000007	Autosomal recessive inheritance
OMIM:612437	CSTB	1476	HP:0001260	Dysarthria
OMIM:612437	SCARB2	950	HP:0003487	Babinski sign
OMIM:612437	SCARB2	950	HP:0002123	Generalized myoclonic seizures
OMIM:612437	SCARB2	950	HP:0010819	Atonic seizures
OMIM:612437	SCARB2	950	HP:0001310	Dysmetria
OMIM:612437	SCARB2	950	HP:0001337	Tremor
OMIM:612437	SCARB2	950	HP:0003676	Progressive
OMIM:612437	SCARB2	950	HP:0000007	Autosomal recessive inheritance
OMIM:612437	SCARB2	950	HP:0001260	Dysarthria
OMIM:612437	PRICKLE1	144165	HP:0003487	Babinski sign
OMIM:612437	PRICKLE1	144165	HP:0002123	Generalized myoclonic seizures
OMIM:612437	PRICKLE1	144165	HP:0010819	Atonic seizures
OMIM:612437	PRICKLE1	144165	HP:0001310	Dysmetria
OMIM:612437	PRICKLE1	144165	HP:0001337	Tremor
OMIM:612437	PRICKLE1	144165	HP:0003676	Progressive
OMIM:612437	PRICKLE1	144165	HP:0000007	Autosomal recessive inheritance
OMIM:612437	PRICKLE1	144165	HP:0001260	Dysarthria
OMIM:614899	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:614899	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:614899	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:614899	BSND	7809	HP:0000365	Hearing impairment
OMIM:614899	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:614899	ESPN	83715	HP:0000365	Hearing impairment
OMIM:614899	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:614899	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:614899	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:614899	OTOA	146183	HP:0000365	Hearing impairment
OMIM:614899	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:614899	GJA1	2697	HP:0000365	Hearing impairment
OMIM:614899	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:614899	MET	4233	HP:0000365	Hearing impairment
OMIM:614899	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:614899	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:614899	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:614899	HGF	3082	HP:0000365	Hearing impairment
OMIM:614899	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:614899	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:614899	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:614899	EPS8	2059	HP:0000365	Hearing impairment
OMIM:614899	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:614899	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:614899	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:614899	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:614899	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:614899	GJB2	2706	HP:0000365	Hearing impairment
OMIM:614899	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:614899	CABP2	51475	HP:0000365	Hearing impairment
OMIM:614899	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:614899	GJB3	2707	HP:0000365	Hearing impairment
OMIM:614899	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:614899	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:614899	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:614899	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:614899	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:614899	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:614899	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614899	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614899	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:614899	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:614899	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:614899	KARS	3735	HP:0000365	Hearing impairment
OMIM:614899	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:614899	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:614899	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:614899	TMC1	117531	HP:0000365	Hearing impairment
OMIM:614899	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:614899	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:614899	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:614899	OTOF	9381	HP:0000365	Hearing impairment
OMIM:614899	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614899	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614899	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:614899	TMIE	259236	HP:0000365	Hearing impairment
OMIM:614899	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:614899	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:614899	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:614899	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:614899	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:614899	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:614899	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:614899	TPRN	286262	HP:0000365	Hearing impairment
OMIM:614899	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:614899	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:614899	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:614899	GJB6	10804	HP:0000365	Hearing impairment
OMIM:614899	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:614899	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:614899	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:614899	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:614899	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:614899	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:614899	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:614899	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:614899	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614899	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614899	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:614899	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:614899	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:614899	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:614899	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:614899	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:614899	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:614899	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:614899	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:614899	CDH23	64072	HP:0000365	Hearing impairment
OMIM:614899	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:614899	RDX	5962	HP:0000365	Hearing impairment
OMIM:614899	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:614899	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:614899	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:614899	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:614899	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:614899	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:614899	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:614899	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:614899	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:614899	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:614899	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:614899	STRC	161497	HP:0000365	Hearing impairment
OMIM:614899	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614899	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:614899	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:614899	TECTA	7007	HP:0000365	Hearing impairment
OMIM:614899	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:614899	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:614899	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:614899	USH1C	10083	HP:0000365	Hearing impairment
OMIM:614899	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:614899	ADCY1	107	HP:0000365	Hearing impairment
OMIM:614899	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:614899	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:614899	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:614899	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:614899	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:614899	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:614899	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:614899	OTOG	340990	HP:0000365	Hearing impairment
OMIM:616335	TUBGCP6	85378	HP:0001263	Global developmental delay
OMIM:616335	TUBGCP6	85378	HP:0000639	Nystagmus
OMIM:616335	TUBGCP6	85378	HP:0000252	Microcephaly
OMIM:616335	TUBGCP6	85378	HP:0000505	Visual impairment
OMIM:616335	TUBGCP6	85378	HP:0000568	Microphthalmia
OMIM:616335	TUBGCP6	85378	HP:0007663	Reduced visual acuity
OMIM:616335	TUBGCP6	85378	HP:0001999	Abnormal facial shape
OMIM:616335	TUBGCP4	27229	HP:0001263	Global developmental delay
OMIM:616335	TUBGCP4	27229	HP:0000639	Nystagmus
OMIM:616335	TUBGCP4	27229	HP:0000252	Microcephaly
OMIM:616335	TUBGCP4	27229	HP:0000505	Visual impairment
OMIM:616335	TUBGCP4	27229	HP:0000568	Microphthalmia
OMIM:616335	TUBGCP4	27229	HP:0007663	Reduced visual acuity
OMIM:616335	TUBGCP4	27229	HP:0001999	Abnormal facial shape
OMIM:613077	POLG2	11232	HP:0000006	Autosomal dominant inheritance
OMIM:613077	POLG2	11232	HP:0000739	Anxiety
OMIM:613077	POLG2	11232	HP:0001265	Hyporeflexia
OMIM:613077	POLG2	11232	HP:0000501	Glaucoma
OMIM:613077	POLG2	11232	HP:0000508	Ptosis
OMIM:613077	POLG2	11232	HP:0001260	Dysarthria
OMIM:613077	POLG2	11232	HP:0002015	Dysphagia
OMIM:613077	POLG2	11232	HP:0002066	Gait ataxia
OMIM:613077	POLG2	11232	HP:0000365	Hearing impairment
OMIM:613077	POLG2	11232	HP:0003546	Exercise intolerance
OMIM:613077	SLC25A4	291	HP:0000006	Autosomal dominant inheritance
OMIM:613077	SLC25A4	291	HP:0000739	Anxiety
OMIM:613077	SLC25A4	291	HP:0001265	Hyporeflexia
OMIM:613077	SLC25A4	291	HP:0000501	Glaucoma
OMIM:613077	SLC25A4	291	HP:0000508	Ptosis
OMIM:613077	SLC25A4	291	HP:0001260	Dysarthria
OMIM:613077	SLC25A4	291	HP:0002015	Dysphagia
OMIM:613077	SLC25A4	291	HP:0002066	Gait ataxia
OMIM:613077	SLC25A4	291	HP:0000365	Hearing impairment
OMIM:613077	SLC25A4	291	HP:0003546	Exercise intolerance
OMIM:613077	RRM2B	50484	HP:0000006	Autosomal dominant inheritance
OMIM:613077	RRM2B	50484	HP:0000739	Anxiety
OMIM:613077	RRM2B	50484	HP:0001265	Hyporeflexia
OMIM:613077	RRM2B	50484	HP:0000501	Glaucoma
OMIM:613077	RRM2B	50484	HP:0000508	Ptosis
OMIM:613077	RRM2B	50484	HP:0001260	Dysarthria
OMIM:613077	RRM2B	50484	HP:0002015	Dysphagia
OMIM:613077	RRM2B	50484	HP:0002066	Gait ataxia
OMIM:613077	RRM2B	50484	HP:0000365	Hearing impairment
OMIM:613077	RRM2B	50484	HP:0003546	Exercise intolerance
OMIM:613077	POLG	5428	HP:0000006	Autosomal dominant inheritance
OMIM:613077	POLG	5428	HP:0000739	Anxiety
OMIM:613077	POLG	5428	HP:0001265	Hyporeflexia
OMIM:613077	POLG	5428	HP:0000501	Glaucoma
OMIM:613077	POLG	5428	HP:0000508	Ptosis
OMIM:613077	POLG	5428	HP:0001260	Dysarthria
OMIM:613077	POLG	5428	HP:0002015	Dysphagia
OMIM:613077	POLG	5428	HP:0002066	Gait ataxia
OMIM:613077	POLG	5428	HP:0000365	Hearing impairment
OMIM:613077	POLG	5428	HP:0003546	Exercise intolerance
OMIM:613077	C10ORF2	56652	HP:0000006	Autosomal dominant inheritance
OMIM:613077	C10ORF2	56652	HP:0000739	Anxiety
OMIM:613077	C10ORF2	56652	HP:0001265	Hyporeflexia
OMIM:613077	C10ORF2	56652	HP:0000501	Glaucoma
OMIM:613077	C10ORF2	56652	HP:0000508	Ptosis
OMIM:613077	C10ORF2	56652	HP:0001260	Dysarthria
OMIM:613077	C10ORF2	56652	HP:0002015	Dysphagia
OMIM:613077	C10ORF2	56652	HP:0002066	Gait ataxia
OMIM:613077	C10ORF2	56652	HP:0000365	Hearing impairment
OMIM:613077	C10ORF2	56652	HP:0003546	Exercise intolerance
OMIM:616139	PLCB1	23236	HP:0001263	Global developmental delay
OMIM:616139	PLCB1	23236	HP:0001250	Seizures
OMIM:616139	PLCB1	23236	HP:0001252	Muscular hypotonia
OMIM:616139	PLCB1	23236	HP:0001249	Intellectual disability
OMIM:616139	PLCB1	23236	HP:0200134	Epileptic encephalopathy
OMIM:616139	PLCB1	23236	HP:0001344	Absent speech
OMIM:616139	SPTAN1	6709	HP:0001263	Global developmental delay
OMIM:616139	SPTAN1	6709	HP:0001250	Seizures
OMIM:616139	SPTAN1	6709	HP:0001252	Muscular hypotonia
OMIM:616139	SPTAN1	6709	HP:0001249	Intellectual disability
OMIM:616139	SPTAN1	6709	HP:0200134	Epileptic encephalopathy
OMIM:616139	SPTAN1	6709	HP:0001344	Absent speech
OMIM:616139	SCN2A	6326	HP:0001263	Global developmental delay
OMIM:616139	SCN2A	6326	HP:0001250	Seizures
OMIM:616139	SCN2A	6326	HP:0001252	Muscular hypotonia
OMIM:616139	SCN2A	6326	HP:0001249	Intellectual disability
OMIM:616139	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:616139	SCN2A	6326	HP:0001344	Absent speech
OMIM:616139	ST3GAL3	6487	HP:0001263	Global developmental delay
OMIM:616139	ST3GAL3	6487	HP:0001250	Seizures
OMIM:616139	ST3GAL3	6487	HP:0001252	Muscular hypotonia
OMIM:616139	ST3GAL3	6487	HP:0001249	Intellectual disability
OMIM:616139	ST3GAL3	6487	HP:0200134	Epileptic encephalopathy
OMIM:616139	ST3GAL3	6487	HP:0001344	Absent speech
OMIM:616139	GRIN2B	2904	HP:0001263	Global developmental delay
OMIM:616139	GRIN2B	2904	HP:0001250	Seizures
OMIM:616139	GRIN2B	2904	HP:0001252	Muscular hypotonia
OMIM:616139	GRIN2B	2904	HP:0001249	Intellectual disability
OMIM:616139	GRIN2B	2904	HP:0200134	Epileptic encephalopathy
OMIM:616139	GRIN2B	2904	HP:0001344	Absent speech
OMIM:616139	CDKL5	6792	HP:0001263	Global developmental delay
OMIM:616139	CDKL5	6792	HP:0001250	Seizures
OMIM:616139	CDKL5	6792	HP:0001252	Muscular hypotonia
OMIM:616139	CDKL5	6792	HP:0001249	Intellectual disability
OMIM:616139	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:616139	CDKL5	6792	HP:0001344	Absent speech
OMIM:616139	ARX	170302	HP:0001263	Global developmental delay
OMIM:616139	ARX	170302	HP:0001250	Seizures
OMIM:616139	ARX	170302	HP:0001252	Muscular hypotonia
OMIM:616139	ARX	170302	HP:0001249	Intellectual disability
OMIM:616139	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:616139	ARX	170302	HP:0001344	Absent speech
OMIM:616139	SIK1	150094	HP:0001263	Global developmental delay
OMIM:616139	SIK1	150094	HP:0001250	Seizures
OMIM:616139	SIK1	150094	HP:0001252	Muscular hypotonia
OMIM:616139	SIK1	150094	HP:0001249	Intellectual disability
OMIM:616139	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:616139	SIK1	150094	HP:0001344	Absent speech
OMIM:616139	PIGA	5277	HP:0001263	Global developmental delay
OMIM:616139	PIGA	5277	HP:0001250	Seizures
OMIM:616139	PIGA	5277	HP:0001252	Muscular hypotonia
OMIM:616139	PIGA	5277	HP:0001249	Intellectual disability
OMIM:616139	PIGA	5277	HP:0200134	Epileptic encephalopathy
OMIM:616139	PIGA	5277	HP:0001344	Absent speech
OMIM:615871	KCNB1	3745	HP:0001249	Intellectual disability
OMIM:615871	KCNB1	3745	HP:0200134	Epileptic encephalopathy
OMIM:615871	KCNB1	3745	HP:0001251	Ataxia
OMIM:615871	KCNB1	3745	HP:0002373	Febrile seizures
OMIM:615871	KCNB1	3745	HP:0000708	Behavioral abnormality
OMIM:615871	PIGQ	9091	HP:0001249	Intellectual disability
OMIM:615871	PIGQ	9091	HP:0200134	Epileptic encephalopathy
OMIM:615871	PIGQ	9091	HP:0001251	Ataxia
OMIM:615871	PIGQ	9091	HP:0002373	Febrile seizures
OMIM:615871	PIGQ	9091	HP:0000708	Behavioral abnormality
OMIM:615871	SLC25A22	79751	HP:0001249	Intellectual disability
OMIM:615871	SLC25A22	79751	HP:0200134	Epileptic encephalopathy
OMIM:615871	SLC25A22	79751	HP:0001251	Ataxia
OMIM:615871	SLC25A22	79751	HP:0002373	Febrile seizures
OMIM:615871	SLC25A22	79751	HP:0000708	Behavioral abnormality
OMIM:615871	CDKL5	6792	HP:0001249	Intellectual disability
OMIM:615871	CDKL5	6792	HP:0200134	Epileptic encephalopathy
OMIM:615871	CDKL5	6792	HP:0001251	Ataxia
OMIM:615871	CDKL5	6792	HP:0002373	Febrile seizures
OMIM:615871	CDKL5	6792	HP:0000708	Behavioral abnormality
OMIM:615871	KCNQ2	3785	HP:0001249	Intellectual disability
OMIM:615871	KCNQ2	3785	HP:0200134	Epileptic encephalopathy
OMIM:615871	KCNQ2	3785	HP:0001251	Ataxia
OMIM:615871	KCNQ2	3785	HP:0002373	Febrile seizures
OMIM:615871	KCNQ2	3785	HP:0000708	Behavioral abnormality
OMIM:615871	SLC13A5	284111	HP:0001249	Intellectual disability
OMIM:615871	SLC13A5	284111	HP:0200134	Epileptic encephalopathy
OMIM:615871	SLC13A5	284111	HP:0001251	Ataxia
OMIM:615871	SLC13A5	284111	HP:0002373	Febrile seizures
OMIM:615871	SLC13A5	284111	HP:0000708	Behavioral abnormality
OMIM:615871	SIK1	150094	HP:0001249	Intellectual disability
OMIM:615871	SIK1	150094	HP:0200134	Epileptic encephalopathy
OMIM:615871	SIK1	150094	HP:0001251	Ataxia
OMIM:615871	SIK1	150094	HP:0002373	Febrile seizures
OMIM:615871	SIK1	150094	HP:0000708	Behavioral abnormality
OMIM:615871	HCN1	348980	HP:0001249	Intellectual disability
OMIM:615871	HCN1	348980	HP:0200134	Epileptic encephalopathy
OMIM:615871	HCN1	348980	HP:0001251	Ataxia
OMIM:615871	HCN1	348980	HP:0002373	Febrile seizures
OMIM:615871	HCN1	348980	HP:0000708	Behavioral abnormality
OMIM:615871	PNKP	11284	HP:0001249	Intellectual disability
OMIM:615871	PNKP	11284	HP:0200134	Epileptic encephalopathy
OMIM:615871	PNKP	11284	HP:0001251	Ataxia
OMIM:615871	PNKP	11284	HP:0002373	Febrile seizures
OMIM:615871	PNKP	11284	HP:0000708	Behavioral abnormality
OMIM:615871	SCN2A	6326	HP:0001249	Intellectual disability
OMIM:615871	SCN2A	6326	HP:0200134	Epileptic encephalopathy
OMIM:615871	SCN2A	6326	HP:0001251	Ataxia
OMIM:615871	SCN2A	6326	HP:0002373	Febrile seizures
OMIM:615871	SCN2A	6326	HP:0000708	Behavioral abnormality
OMIM:615871	GNAO1	2775	HP:0001249	Intellectual disability
OMIM:615871	GNAO1	2775	HP:0200134	Epileptic encephalopathy
OMIM:615871	GNAO1	2775	HP:0001251	Ataxia
OMIM:615871	GNAO1	2775	HP:0002373	Febrile seizures
OMIM:615871	GNAO1	2775	HP:0000708	Behavioral abnormality
OMIM:615871	NECAP1	25977	HP:0001249	Intellectual disability
OMIM:615871	NECAP1	25977	HP:0200134	Epileptic encephalopathy
OMIM:615871	NECAP1	25977	HP:0001251	Ataxia
OMIM:615871	NECAP1	25977	HP:0002373	Febrile seizures
OMIM:615871	NECAP1	25977	HP:0000708	Behavioral abnormality
OMIM:615871	ARX	170302	HP:0001249	Intellectual disability
OMIM:615871	ARX	170302	HP:0200134	Epileptic encephalopathy
OMIM:615871	ARX	170302	HP:0001251	Ataxia
OMIM:615871	ARX	170302	HP:0002373	Febrile seizures
OMIM:615871	ARX	170302	HP:0000708	Behavioral abnormality
OMIM:615871	STXBP1	6812	HP:0001249	Intellectual disability
OMIM:615871	STXBP1	6812	HP:0200134	Epileptic encephalopathy
OMIM:615871	STXBP1	6812	HP:0001251	Ataxia
OMIM:615871	STXBP1	6812	HP:0002373	Febrile seizures
OMIM:615871	STXBP1	6812	HP:0000708	Behavioral abnormality
OMIM:615871	WWOX	51741	HP:0001249	Intellectual disability
OMIM:615871	WWOX	51741	HP:0200134	Epileptic encephalopathy
OMIM:615871	WWOX	51741	HP:0001251	Ataxia
OMIM:615871	WWOX	51741	HP:0002373	Febrile seizures
OMIM:615871	WWOX	51741	HP:0000708	Behavioral abnormality
OMIM:615871	CASK	8573	HP:0001249	Intellectual disability
OMIM:615871	CASK	8573	HP:0200134	Epileptic encephalopathy
OMIM:615871	CASK	8573	HP:0001251	Ataxia
OMIM:615871	CASK	8573	HP:0002373	Febrile seizures
OMIM:615871	CASK	8573	HP:0000708	Behavioral abnormality
OMIM:615871	SCN8A	6334	HP:0001249	Intellectual disability
OMIM:615871	SCN8A	6334	HP:0200134	Epileptic encephalopathy
OMIM:615871	SCN8A	6334	HP:0001251	Ataxia
OMIM:615871	SCN8A	6334	HP:0002373	Febrile seizures
OMIM:615871	SCN8A	6334	HP:0000708	Behavioral abnormality
OMIM:615871	DNM1	1759	HP:0001249	Intellectual disability
OMIM:615871	DNM1	1759	HP:0200134	Epileptic encephalopathy
OMIM:615871	DNM1	1759	HP:0001251	Ataxia
OMIM:615871	DNM1	1759	HP:0002373	Febrile seizures
OMIM:615871	DNM1	1759	HP:0000708	Behavioral abnormality
OMIM:250400	MMP13	4322	HP:0004322	Short stature
OMIM:250400	MMP13	4322	HP:0002970	Genu varum
OMIM:250400	MMP13	4322	HP:0004979	Metaphyseal sclerosis
OMIM:250400	MMP13	4322	HP:0000670	Carious teeth
OMIM:250400	MMP13	4322	HP:0002857	Genu valgum
OMIM:250400	MMP13	4322	HP:0002650	Scoliosis
OMIM:250400	MMP13	4322	HP:0003016	Metaphyseal widening
OMIM:250400	MMP13	4322	HP:0001288	Gait disturbance
OMIM:250400	MMP13	4322	HP:0002750	Delayed skeletal maturation
OMIM:250400	MMP13	4322	HP:0003272	Abnormality of the hip bone
OMIM:250400	MMP13	4322	HP:0002515	Waddling gait
OMIM:250400	MMP13	4322	HP:0001270	Motor delay
OMIM:250400	MMP13	4322	HP:0000234	Abnormality of the head
OMIM:250400	MMP13	4322	HP:0003498	Disproportionate short stature
OMIM:250400	MMP13	4322	HP:0000007	Autosomal recessive inheritance
OMIM:250400	MMP13	4322	HP:0003307	Hyperlordosis
OMIM:250400	MMP13	4322	HP:0005930	Abnormality of epiphysis morphology
OMIM:250400	MMP13	4322	HP:0004349	Reduced bone mineral density
OMIM:250400	MMP13	4322	HP:0006385	Short lower limbs
OMIM:231670	GCDH	2639	HP:0000256	Macrocephaly
OMIM:231670	GCDH	2639	HP:0001508	Failure to thrive
OMIM:231670	GCDH	2639	HP:0000235	Abnormality of the fontanelles or cranial sutures
OMIM:231670	GCDH	2639	HP:0002072	Chorea
OMIM:231670	GCDH	2639	HP:0001252	Muscular hypotonia
OMIM:231670	GCDH	2639	HP:0001999	Abnormal facial shape
OMIM:231670	GCDH	2639	HP:0001943	Hypoglycemia
OMIM:231670	GCDH	2639	HP:0002071	Abnormality of extrapyramidal motor function
OMIM:231670	GCDH	2639	HP:0001250	Seizures
OMIM:231670	GCDH	2639	HP:0001332	Dystonia
OMIM:231670	GCDH	2639	HP:0000496	Abnormality of eye movement
OMIM:231670	GCDH	2639	HP:0001276	Hypertonia
OMIM:231670	GCDH	2639	HP:0002240	Hepatomegaly
OMIM:231670	GCDH	2639	HP:0004372	Reduced consciousness/confusion
OMIM:231670	GCDH	2639	HP:0002383	Encephalitis
OMIM:231670	GCDH	2639	HP:0007105	Infantile encephalopathy
OMIM:231670	GCDH	2639	HP:0001288	Gait disturbance
OMIM:231670	GCDH	2639	HP:0002170	Intracranial hemorrhage
OMIM:231670	GCDH	2639	HP:0001942	Metabolic acidosis
OMIM:231670	GCDH	2639	HP:0002076	Migraine
OMIM:231670	GCDH	2639	HP:0002376	Developmental regression
OMIM:231670	GCDH	2639	HP:0001367	Abnormal joint morphology
OMIM:231670	GCDH	2639	HP:0002179	Opisthotonus
OMIM:231670	GCDH	2639	HP:0100543	Cognitive impairment
OMIM:231670	GCDH	2639	HP:0000708	Behavioral abnormality
OMIM:231670	GCDH	2639	HP:0002007	Frontal bossing
OMIM:231670	GCDH	2639	HP:0002063	Rigidity
OMIM:231670	GCDH	2639	HP:0012448	Delayed myelination
OMIM:231670	GCDH	2639	HP:0001946	Ketosis
OMIM:231670	GCDH	2639	HP:0002167	Neurological speech impairment
OMIM:231670	GCDH	2639	HP:0008872	Feeding difficulties in infancy
OMIM:231670	GCDH	2639	HP:0002017	Nausea and vomiting
OMIM:231670	GCDH	2639	HP:0002637	Cerebral ischemia
OMIM:231670	GCDH	2639	HP:0000007	Autosomal recessive inheritance
OMIM:231670	GCDH	2639	HP:0002321	Vertigo
OMIM:231670	GCDH	2639	HP:0004374	Hemiplegia/hemiparesis
OMIM:231670	GCDH	2639	HP:0008046	Abnormality of the retinal vasculature
OMIM:231670	GCDH	2639	HP:0001266	Choreoathetosis
OMIM:231670	GCDH	2639	HP:0002919	Ketonuria
OMIM:249210	MYH11	4629	HP:0002566	Intestinal malrotation
OMIM:249210	MYH11	4629	HP:0000126	Hydronephrosis
OMIM:249210	MYH11	4629	HP:0001561	Polyhydramnios
OMIM:249210	MYH11	4629	HP:0002017	Nausea and vomiting
OMIM:249210	MYH11	4629	HP:0000072	Hydroureter
OMIM:249210	MYH11	4629	HP:0001537	Umbilical hernia
OMIM:249210	MYH11	4629	HP:0000003	Multicystic kidney dysplasia
OMIM:249210	MYH11	4629	HP:0001539	Omphalocele
OMIM:249210	MYH11	4629	HP:0003270	Abdominal distention
OMIM:249210	MYH11	4629	HP:0001562	Oligohydramnios
OMIM:249210	MYH11	4629	HP:0000007	Autosomal recessive inheritance
OMIM:249210	MYH11	4629	HP:0100806	Sepsis
OMIM:249210	MYH11	4629	HP:0000028	Cryptorchidism
OMIM:249210	MYH11	4629	HP:0000110	Renal dysplasia
OMIM:249210	MYH11	4629	HP:0001518	Small for gestational age
OMIM:249210	MYH11	4629	HP:0002579	Gastrointestinal dysmotility
OMIM:249210	ACTG2	72	HP:0002566	Intestinal malrotation
OMIM:249210	ACTG2	72	HP:0000126	Hydronephrosis
OMIM:249210	ACTG2	72	HP:0001561	Polyhydramnios
OMIM:249210	ACTG2	72	HP:0002017	Nausea and vomiting
OMIM:249210	ACTG2	72	HP:0000072	Hydroureter
OMIM:249210	ACTG2	72	HP:0001537	Umbilical hernia
OMIM:249210	ACTG2	72	HP:0000003	Multicystic kidney dysplasia
OMIM:249210	ACTG2	72	HP:0001539	Omphalocele
OMIM:249210	ACTG2	72	HP:0003270	Abdominal distention
OMIM:249210	ACTG2	72	HP:0001562	Oligohydramnios
OMIM:249210	ACTG2	72	HP:0000007	Autosomal recessive inheritance
OMIM:249210	ACTG2	72	HP:0100806	Sepsis
OMIM:249210	ACTG2	72	HP:0000028	Cryptorchidism
OMIM:249210	ACTG2	72	HP:0000110	Renal dysplasia
OMIM:249210	ACTG2	72	HP:0001518	Small for gestational age
OMIM:249210	ACTG2	72	HP:0002579	Gastrointestinal dysmotility
OMIM:605899	AMT	275	HP:0001254	Lethargy
OMIM:605899	AMT	275	HP:0001250	Seizures
OMIM:605899	AMT	275	HP:0000718	Aggressive behavior
OMIM:605899	AMT	275	HP:0001298	Encephalopathy
OMIM:605899	AMT	275	HP:0001274	Agenesis of corpus callosum
OMIM:605899	AMT	275	HP:0000752	Hyperactivity
OMIM:605899	AMT	275	HP:0000007	Autosomal recessive inheritance
OMIM:605899	AMT	275	HP:0001522	Death in infancy
OMIM:605899	AMT	275	HP:0000737	Irritability
OMIM:605899	AMT	275	HP:0003108	Hyperglycinuria
OMIM:605899	AMT	275	HP:0001347	Hyperreflexia
OMIM:605899	AMT	275	HP:0001249	Intellectual disability
OMIM:605899	AMT	275	HP:0000711	Restlessness
OMIM:605899	AMT	275	HP:0001336	Myoclonus
OMIM:605899	AMT	275	HP:0001252	Muscular hypotonia
OMIM:605899	AMT	275	HP:0002154	Hyperglycinemia
OMIM:605899	GLDC	2731	HP:0001254	Lethargy
OMIM:605899	GLDC	2731	HP:0001250	Seizures
OMIM:605899	GLDC	2731	HP:0000718	Aggressive behavior
OMIM:605899	GLDC	2731	HP:0001298	Encephalopathy
OMIM:605899	GLDC	2731	HP:0001274	Agenesis of corpus callosum
OMIM:605899	GLDC	2731	HP:0000752	Hyperactivity
OMIM:605899	GLDC	2731	HP:0000007	Autosomal recessive inheritance
OMIM:605899	GLDC	2731	HP:0001522	Death in infancy
OMIM:605899	GLDC	2731	HP:0000737	Irritability
OMIM:605899	GLDC	2731	HP:0003108	Hyperglycinuria
OMIM:605899	GLDC	2731	HP:0001347	Hyperreflexia
OMIM:605899	GLDC	2731	HP:0001249	Intellectual disability
OMIM:605899	GLDC	2731	HP:0000711	Restlessness
OMIM:605899	GLDC	2731	HP:0001336	Myoclonus
OMIM:605899	GLDC	2731	HP:0001252	Muscular hypotonia
OMIM:605899	GLDC	2731	HP:0002154	Hyperglycinemia
OMIM:605899	GCSH	2653	HP:0001254	Lethargy
OMIM:605899	GCSH	2653	HP:0001250	Seizures
OMIM:605899	GCSH	2653	HP:0000718	Aggressive behavior
OMIM:605899	GCSH	2653	HP:0001298	Encephalopathy
OMIM:605899	GCSH	2653	HP:0001274	Agenesis of corpus callosum
OMIM:605899	GCSH	2653	HP:0000752	Hyperactivity
OMIM:605899	GCSH	2653	HP:0000007	Autosomal recessive inheritance
OMIM:605899	GCSH	2653	HP:0001522	Death in infancy
OMIM:605899	GCSH	2653	HP:0000737	Irritability
OMIM:605899	GCSH	2653	HP:0003108	Hyperglycinuria
OMIM:605899	GCSH	2653	HP:0001347	Hyperreflexia
OMIM:605899	GCSH	2653	HP:0001249	Intellectual disability
OMIM:605899	GCSH	2653	HP:0000711	Restlessness
OMIM:605899	GCSH	2653	HP:0001336	Myoclonus
OMIM:605899	GCSH	2653	HP:0001252	Muscular hypotonia
OMIM:605899	GCSH	2653	HP:0002154	Hyperglycinemia
OMIM:268200	COX1	4512	HP:0008942	Acute rhabdomyolysis
OMIM:268200	COX1	4512	HP:0001265	Hyporeflexia
OMIM:268200	COX1	4512	HP:0000007	Autosomal recessive inheritance
OMIM:268200	COX1	4512	HP:0001945	Fever
OMIM:268200	COX1	4512	HP:0002153	Hyperkalemia
OMIM:268200	COX1	4512	HP:0001284	Areflexia
OMIM:268200	COX1	4512	HP:0001919	Acute kidney injury
OMIM:268200	COX1	4512	HP:0002913	Myoglobinuria
OMIM:268200	COX1	4512	HP:0001324	Muscle weakness
OMIM:268200	COX1	4512	HP:0003236	Elevated serum creatine phosphokinase
OMIM:268200	COX1	4512	HP:0003326	Myalgia
OMIM:268200	COX3	4514	HP:0008942	Acute rhabdomyolysis
OMIM:268200	COX3	4514	HP:0001265	Hyporeflexia
OMIM:268200	COX3	4514	HP:0000007	Autosomal recessive inheritance
OMIM:268200	COX3	4514	HP:0001945	Fever
OMIM:268200	COX3	4514	HP:0002153	Hyperkalemia
OMIM:268200	COX3	4514	HP:0001284	Areflexia
OMIM:268200	COX3	4514	HP:0001919	Acute kidney injury
OMIM:268200	COX3	4514	HP:0002913	Myoglobinuria
OMIM:268200	COX3	4514	HP:0001324	Muscle weakness
OMIM:268200	COX3	4514	HP:0003236	Elevated serum creatine phosphokinase
OMIM:268200	COX3	4514	HP:0003326	Myalgia
OMIM:268200	LPIN1	23175	HP:0008942	Acute rhabdomyolysis
OMIM:268200	LPIN1	23175	HP:0001265	Hyporeflexia
OMIM:268200	LPIN1	23175	HP:0000007	Autosomal recessive inheritance
OMIM:268200	LPIN1	23175	HP:0001945	Fever
OMIM:268200	LPIN1	23175	HP:0002153	Hyperkalemia
OMIM:268200	LPIN1	23175	HP:0001284	Areflexia
OMIM:268200	LPIN1	23175	HP:0001919	Acute kidney injury
OMIM:268200	LPIN1	23175	HP:0002913	Myoglobinuria
OMIM:268200	LPIN1	23175	HP:0001324	Muscle weakness
OMIM:268200	LPIN1	23175	HP:0003236	Elevated serum creatine phosphokinase
OMIM:268200	LPIN1	23175	HP:0003326	Myalgia
OMIM:610248	MSRB3	253827	HP:0000007	Autosomal recessive inheritance
OMIM:610248	MSRB3	253827	HP:0003593	Infantile onset
OMIM:610248	MSRB3	253827	HP:0000365	Hearing impairment
OMIM:610248	BSND	7809	HP:0000007	Autosomal recessive inheritance
OMIM:610248	BSND	7809	HP:0003593	Infantile onset
OMIM:610248	BSND	7809	HP:0000365	Hearing impairment
OMIM:610248	ESPN	83715	HP:0000007	Autosomal recessive inheritance
OMIM:610248	ESPN	83715	HP:0003593	Infantile onset
OMIM:610248	ESPN	83715	HP:0000365	Hearing impairment
OMIM:610248	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:610248	DFNB31	25861	HP:0003593	Infantile onset
OMIM:610248	DFNB31	25861	HP:0000365	Hearing impairment
OMIM:610248	OTOA	146183	HP:0000007	Autosomal recessive inheritance
OMIM:610248	OTOA	146183	HP:0003593	Infantile onset
OMIM:610248	OTOA	146183	HP:0000365	Hearing impairment
OMIM:610248	GJA1	2697	HP:0000007	Autosomal recessive inheritance
OMIM:610248	GJA1	2697	HP:0003593	Infantile onset
OMIM:610248	GJA1	2697	HP:0000365	Hearing impairment
OMIM:610248	MET	4233	HP:0000007	Autosomal recessive inheritance
OMIM:610248	MET	4233	HP:0003593	Infantile onset
OMIM:610248	MET	4233	HP:0000365	Hearing impairment
OMIM:610248	CLDN14	23562	HP:0000007	Autosomal recessive inheritance
OMIM:610248	CLDN14	23562	HP:0003593	Infantile onset
OMIM:610248	CLDN14	23562	HP:0000365	Hearing impairment
OMIM:610248	HGF	3082	HP:0000007	Autosomal recessive inheritance
OMIM:610248	HGF	3082	HP:0003593	Infantile onset
OMIM:610248	HGF	3082	HP:0000365	Hearing impairment
OMIM:610248	PNPT1	87178	HP:0000007	Autosomal recessive inheritance
OMIM:610248	PNPT1	87178	HP:0003593	Infantile onset
OMIM:610248	PNPT1	87178	HP:0000365	Hearing impairment
OMIM:610248	EPS8	2059	HP:0000007	Autosomal recessive inheritance
OMIM:610248	EPS8	2059	HP:0003593	Infantile onset
OMIM:610248	EPS8	2059	HP:0000365	Hearing impairment
OMIM:610248	MYO3A	53904	HP:0000007	Autosomal recessive inheritance
OMIM:610248	MYO3A	53904	HP:0003593	Infantile onset
OMIM:610248	MYO3A	53904	HP:0000365	Hearing impairment
OMIM:610248	DCDC2	51473	HP:0000007	Autosomal recessive inheritance
OMIM:610248	DCDC2	51473	HP:0003593	Infantile onset
OMIM:610248	DCDC2	51473	HP:0000365	Hearing impairment
OMIM:610248	GJB2	2706	HP:0000007	Autosomal recessive inheritance
OMIM:610248	GJB2	2706	HP:0003593	Infantile onset
OMIM:610248	GJB2	2706	HP:0000365	Hearing impairment
OMIM:610248	GJB3	2707	HP:0000007	Autosomal recessive inheritance
OMIM:610248	GJB3	2707	HP:0003593	Infantile onset
OMIM:610248	GJB3	2707	HP:0000365	Hearing impairment
OMIM:610248	CABP2	51475	HP:0000007	Autosomal recessive inheritance
OMIM:610248	CABP2	51475	HP:0003593	Infantile onset
OMIM:610248	CABP2	51475	HP:0000365	Hearing impairment
OMIM:610248	GRXCR2	643226	HP:0000007	Autosomal recessive inheritance
OMIM:610248	GRXCR2	643226	HP:0003593	Infantile onset
OMIM:610248	GRXCR2	643226	HP:0000365	Hearing impairment
OMIM:610248	SERPINB6	5269	HP:0000007	Autosomal recessive inheritance
OMIM:610248	SERPINB6	5269	HP:0003593	Infantile onset
OMIM:610248	SERPINB6	5269	HP:0000365	Hearing impairment
OMIM:610248	COL11A2	1302	HP:0000007	Autosomal recessive inheritance
OMIM:610248	COL11A2	1302	HP:0003593	Infantile onset
OMIM:610248	COL11A2	1302	HP:0000365	Hearing impairment
OMIM:610248	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:610248	CIB2	10518	HP:0003593	Infantile onset
OMIM:610248	CIB2	10518	HP:0000365	Hearing impairment
OMIM:610248	FAM65B	9750	HP:0000007	Autosomal recessive inheritance
OMIM:610248	FAM65B	9750	HP:0003593	Infantile onset
OMIM:610248	FAM65B	9750	HP:0000365	Hearing impairment
OMIM:610248	KARS	3735	HP:0000007	Autosomal recessive inheritance
OMIM:610248	KARS	3735	HP:0003593	Infantile onset
OMIM:610248	KARS	3735	HP:0000365	Hearing impairment
OMIM:610248	LOXHD1	125336	HP:0000007	Autosomal recessive inheritance
OMIM:610248	LOXHD1	125336	HP:0003593	Infantile onset
OMIM:610248	LOXHD1	125336	HP:0000365	Hearing impairment
OMIM:610248	TMC1	117531	HP:0000007	Autosomal recessive inheritance
OMIM:610248	TMC1	117531	HP:0003593	Infantile onset
OMIM:610248	TMC1	117531	HP:0000365	Hearing impairment
OMIM:610248	CLIC5	53405	HP:0000007	Autosomal recessive inheritance
OMIM:610248	CLIC5	53405	HP:0003593	Infantile onset
OMIM:610248	CLIC5	53405	HP:0000365	Hearing impairment
OMIM:610248	OTOF	9381	HP:0000007	Autosomal recessive inheritance
OMIM:610248	OTOF	9381	HP:0003593	Infantile onset
OMIM:610248	OTOF	9381	HP:0000365	Hearing impairment
OMIM:610248	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:610248	MYO6	4646	HP:0003593	Infantile onset
OMIM:610248	MYO6	4646	HP:0000365	Hearing impairment
OMIM:610248	TMIE	259236	HP:0000007	Autosomal recessive inheritance
OMIM:610248	TMIE	259236	HP:0003593	Infantile onset
OMIM:610248	TMIE	259236	HP:0000365	Hearing impairment
OMIM:610248	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:610248	MYO7A	4647	HP:0003593	Infantile onset
OMIM:610248	MYO7A	4647	HP:0000365	Hearing impairment
OMIM:610248	LRTOMT	220074	HP:0000007	Autosomal recessive inheritance
OMIM:610248	LRTOMT	220074	HP:0003593	Infantile onset
OMIM:610248	LRTOMT	220074	HP:0000365	Hearing impairment
OMIM:610248	OTOGL	283310	HP:0000007	Autosomal recessive inheritance
OMIM:610248	OTOGL	283310	HP:0003593	Infantile onset
OMIM:610248	OTOGL	283310	HP:0000365	Hearing impairment
OMIM:610248	TPRN	286262	HP:0000007	Autosomal recessive inheritance
OMIM:610248	TPRN	286262	HP:0003593	Infantile onset
OMIM:610248	TPRN	286262	HP:0000365	Hearing impairment
OMIM:610248	SLC26A4	5172	HP:0000007	Autosomal recessive inheritance
OMIM:610248	SLC26A4	5172	HP:0003593	Infantile onset
OMIM:610248	SLC26A4	5172	HP:0000365	Hearing impairment
OMIM:610248	GJB6	10804	HP:0000007	Autosomal recessive inheritance
OMIM:610248	GJB6	10804	HP:0003593	Infantile onset
OMIM:610248	GJB6	10804	HP:0000365	Hearing impairment
OMIM:610248	DFNB59	494513	HP:0000007	Autosomal recessive inheritance
OMIM:610248	DFNB59	494513	HP:0003593	Infantile onset
OMIM:610248	DFNB59	494513	HP:0000365	Hearing impairment
OMIM:610248	ESRRB	2103	HP:0000007	Autosomal recessive inheritance
OMIM:610248	ESRRB	2103	HP:0003593	Infantile onset
OMIM:610248	ESRRB	2103	HP:0000365	Hearing impairment
OMIM:610248	TMPRSS3	64699	HP:0000007	Autosomal recessive inheritance
OMIM:610248	TMPRSS3	64699	HP:0003593	Infantile onset
OMIM:610248	TMPRSS3	64699	HP:0000365	Hearing impairment
OMIM:610248	PTPRQ	374462	HP:0000007	Autosomal recessive inheritance
OMIM:610248	PTPRQ	374462	HP:0003593	Infantile onset
OMIM:610248	PTPRQ	374462	HP:0000365	Hearing impairment
OMIM:610248	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:610248	SLC26A5	375611	HP:0003593	Infantile onset
OMIM:610248	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:610248	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:610248	PCDH15	65217	HP:0003593	Infantile onset
OMIM:610248	PCDH15	65217	HP:0000365	Hearing impairment
OMIM:610248	TSPEAR	54084	HP:0000007	Autosomal recessive inheritance
OMIM:610248	TSPEAR	54084	HP:0003593	Infantile onset
OMIM:610248	TSPEAR	54084	HP:0000365	Hearing impairment
OMIM:610248	LHFPL5	222662	HP:0000007	Autosomal recessive inheritance
OMIM:610248	LHFPL5	222662	HP:0003593	Infantile onset
OMIM:610248	LHFPL5	222662	HP:0000365	Hearing impairment
OMIM:610248	TRIOBP	11078	HP:0000007	Autosomal recessive inheritance
OMIM:610248	TRIOBP	11078	HP:0003593	Infantile onset
OMIM:610248	TRIOBP	11078	HP:0000365	Hearing impairment
OMIM:610248	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:610248	CDH23	64072	HP:0003593	Infantile onset
OMIM:610248	CDH23	64072	HP:0000365	Hearing impairment
OMIM:610248	RDX	5962	HP:0000007	Autosomal recessive inheritance
OMIM:610248	RDX	5962	HP:0003593	Infantile onset
OMIM:610248	RDX	5962	HP:0000365	Hearing impairment
OMIM:610248	GPSM2	29899	HP:0000007	Autosomal recessive inheritance
OMIM:610248	GPSM2	29899	HP:0003593	Infantile onset
OMIM:610248	GPSM2	29899	HP:0000365	Hearing impairment
OMIM:610248	ELMOD3	84173	HP:0000007	Autosomal recessive inheritance
OMIM:610248	ELMOD3	84173	HP:0003593	Infantile onset
OMIM:610248	ELMOD3	84173	HP:0000365	Hearing impairment
OMIM:610248	ILDR1	286676	HP:0000007	Autosomal recessive inheritance
OMIM:610248	ILDR1	286676	HP:0003593	Infantile onset
OMIM:610248	ILDR1	286676	HP:0000365	Hearing impairment
OMIM:610248	GRXCR1	389207	HP:0000007	Autosomal recessive inheritance
OMIM:610248	GRXCR1	389207	HP:0003593	Infantile onset
OMIM:610248	GRXCR1	389207	HP:0000365	Hearing impairment
OMIM:610248	MARVELD2	153562	HP:0000007	Autosomal recessive inheritance
OMIM:610248	MARVELD2	153562	HP:0003593	Infantile onset
OMIM:610248	MARVELD2	153562	HP:0000365	Hearing impairment
OMIM:610248	STRC	161497	HP:0000007	Autosomal recessive inheritance
OMIM:610248	STRC	161497	HP:0003593	Infantile onset
OMIM:610248	STRC	161497	HP:0000365	Hearing impairment
OMIM:610248	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:610248	SLITRK6	84189	HP:0003593	Infantile onset
OMIM:610248	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:610248	TECTA	7007	HP:0000007	Autosomal recessive inheritance
OMIM:610248	TECTA	7007	HP:0003593	Infantile onset
OMIM:610248	TECTA	7007	HP:0000365	Hearing impairment
OMIM:610248	MYO15A	51168	HP:0000007	Autosomal recessive inheritance
OMIM:610248	MYO15A	51168	HP:0003593	Infantile onset
OMIM:610248	MYO15A	51168	HP:0000365	Hearing impairment
OMIM:610248	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:610248	USH1C	10083	HP:0003593	Infantile onset
OMIM:610248	USH1C	10083	HP:0000365	Hearing impairment
OMIM:610248	ADCY1	107	HP:0000007	Autosomal recessive inheritance
OMIM:610248	ADCY1	107	HP:0003593	Infantile onset
OMIM:610248	ADCY1	107	HP:0000365	Hearing impairment
OMIM:610248	SYNE4	163183	HP:0000007	Autosomal recessive inheritance
OMIM:610248	SYNE4	163183	HP:0003593	Infantile onset
OMIM:610248	SYNE4	163183	HP:0000365	Hearing impairment
OMIM:610248	GIPC3	126326	HP:0000007	Autosomal recessive inheritance
OMIM:610248	GIPC3	126326	HP:0003593	Infantile onset
OMIM:610248	GIPC3	126326	HP:0000365	Hearing impairment
OMIM:610248	TBC1D24	57465	HP:0000007	Autosomal recessive inheritance
OMIM:610248	TBC1D24	57465	HP:0003593	Infantile onset
OMIM:610248	TBC1D24	57465	HP:0000365	Hearing impairment
OMIM:610248	OTOG	340990	HP:0000007	Autosomal recessive inheritance
OMIM:610248	OTOG	340990	HP:0003593	Infantile onset
OMIM:610248	OTOG	340990	HP:0000365	Hearing impairment
OMIM:275355	PTEN	5728	HP:0000007	Autosomal recessive inheritance
OMIM:275355	PTEN	5728	HP:0002860	Squamous cell carcinoma
OMIM:275355	ING1	3621	HP:0000007	Autosomal recessive inheritance
OMIM:275355	ING1	3621	HP:0002860	Squamous cell carcinoma
OMIM:275355	TNFRSF10B	8795	HP:0000007	Autosomal recessive inheritance
OMIM:275355	TNFRSF10B	8795	HP:0002860	Squamous cell carcinoma
OMIM:605472	PDZD7	79955	HP:0000007	Autosomal recessive inheritance
OMIM:605472	PDZD7	79955	HP:0008527	Congenital sensorineural hearing impairment
OMIM:605472	PDZD7	79955	HP:0000510	Rod-cone dystrophy
OMIM:605472	DFNB31	25861	HP:0000007	Autosomal recessive inheritance
OMIM:605472	DFNB31	25861	HP:0008527	Congenital sensorineural hearing impairment
OMIM:605472	DFNB31	25861	HP:0000510	Rod-cone dystrophy
OMIM:605472	USH2A	7399	HP:0000007	Autosomal recessive inheritance
OMIM:605472	USH2A	7399	HP:0008527	Congenital sensorineural hearing impairment
OMIM:605472	USH2A	7399	HP:0000510	Rod-cone dystrophy
OMIM:605472	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:605472	MYO7A	4647	HP:0008527	Congenital sensorineural hearing impairment
OMIM:605472	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:605472	ADGRV1	84059	HP:0000007	Autosomal recessive inheritance
OMIM:605472	ADGRV1	84059	HP:0008527	Congenital sensorineural hearing impairment
OMIM:605472	ADGRV1	84059	HP:0000510	Rod-cone dystrophy
OMIM:277460	TTPA	7274	HP:0002167	Neurological speech impairment
OMIM:277460	TTPA	7274	HP:0002650	Scoliosis
OMIM:277460	TTPA	7274	HP:0002155	Hypertriglyceridemia
OMIM:277460	TTPA	7274	HP:0001251	Ataxia
OMIM:277460	TTPA	7274	HP:0004374	Hemiplegia/hemiparesis
OMIM:277460	TTPA	7274	HP:0000662	Nyctalopia
OMIM:277460	TTPA	7274	HP:0001337	Tremor
OMIM:277460	TTPA	7274	HP:0000819	Diabetes mellitus
OMIM:277460	TTPA	7274	HP:0007703	Abnormality of retinal pigmentation
OMIM:277460	TTPA	7274	HP:0001324	Muscle weakness
OMIM:277460	TTPA	7274	HP:0011675	Arrhythmia
OMIM:277460	TTPA	7274	HP:0000649	Abnormality of visual evoked potentials
OMIM:277460	TTPA	7274	HP:0010874	Tendon xanthomatosis
OMIM:277460	TTPA	7274	HP:0001639	Hypertrophic cardiomyopathy
OMIM:277460	TTPA	7274	HP:0007256	Abnormal pyramidal signs
OMIM:277460	TTPA	7274	HP:0003202	Skeletal muscle atrophy
OMIM:277460	TTPA	7274	HP:0001288	Gait disturbance
OMIM:277460	TTPA	7274	HP:0000639	Nystagmus
OMIM:277460	TTPA	7274	HP:0001114	Xanthelasma
OMIM:277460	TTPA	7274	HP:0009830	Peripheral neuropathy
OMIM:277460	TTPA	7274	HP:0002311	Incoordination
OMIM:277460	TTPA	7274	HP:0002376	Developmental regression
OMIM:277460	TTPA	7274	HP:0001761	Pes cavus
OMIM:277460	TTPA	7274	HP:0000007	Autosomal recessive inheritance
OMIM:277460	TTPA	7274	HP:0000505	Visual impairment
OMIM:277460	TTPA	7274	HP:0001276	Hypertonia
OMIM:277460	TTPA	7274	HP:0003124	Hypercholesterolemia
OMIM:277460	TTPA	7274	HP:0001284	Areflexia
OMIM:608404	CD36	948	HP:0001892	Abnormal bleeding
OMIM:608404	CD36	948	HP:0001873	Thrombocytopenia
OMIM:608404	CD36	948	HP:0000007	Autosomal recessive inheritance
OMIM:608404	CD36	948	HP:0000006	Autosomal dominant inheritance
OMIM:608404	CD36	948	HP:0000818	Abnormality of the endocrine system
OMIM:608404	CD36	948	HP:0003010	Prolonged bleeding time
OMIM:612353	FDPS	2224	HP:0000006	Autosomal dominant inheritance
OMIM:612353	MVD	4597	HP:0000006	Autosomal dominant inheritance
OMIM:612353	MVK	4598	HP:0000006	Autosomal dominant inheritance
OMIM:612353	SLC17A9	63910	HP:0000006	Autosomal dominant inheritance
OMIM:615415	NEK8	284086	HP:0001395	Hepatic fibrosis
OMIM:615415	NEK8	284086	HP:0001562	Oligohydramnios
OMIM:615415	NEK8	284086	HP:0003577	Congenital onset
OMIM:615415	NEK8	284086	HP:0001696	Situs inversus totalis
OMIM:615415	NEK8	284086	HP:0002089	Pulmonary hypoplasia
OMIM:615415	NEK8	284086	HP:0001660	Truncus arteriosus
OMIM:615415	NEK8	284086	HP:0001762	Talipes equinovarus
OMIM:615415	NEK8	284086	HP:0003826	Stillbirth
OMIM:615415	NEK8	284086	HP:0000007	Autosomal recessive inheritance
OMIM:615415	NEK8	284086	HP:0002980	Femoral bowing
OMIM:615415	NPHP3	27031	HP:0001395	Hepatic fibrosis
OMIM:615415	NPHP3	27031	HP:0001562	Oligohydramnios
OMIM:615415	NPHP3	27031	HP:0003577	Congenital onset
OMIM:615415	NPHP3	27031	HP:0001696	Situs inversus totalis
OMIM:615415	NPHP3	27031	HP:0002089	Pulmonary hypoplasia
OMIM:615415	NPHP3	27031	HP:0001660	Truncus arteriosus
OMIM:615415	NPHP3	27031	HP:0001762	Talipes equinovarus
OMIM:615415	NPHP3	27031	HP:0003826	Stillbirth
OMIM:615415	NPHP3	27031	HP:0000007	Autosomal recessive inheritance
OMIM:615415	NPHP3	27031	HP:0002980	Femoral bowing
OMIM:126150	HBEGF	1839	HP:0000006	Autosomal dominant inheritance
OMIM:126150	HBEGF	1839	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:604356	CHN1	1123	HP:0000486	Strabismus
OMIM:604356	CHN1	1123	HP:0000646	Amblyopia
OMIM:604356	CHN1	1123	HP:0009921	Duane anomaly
OMIM:604356	CHN1	1123	HP:0000006	Autosomal dominant inheritance
OMIM:232200	G6PC	2538	HP:0000787	Nephrolithiasis
OMIM:232200	G6PC	2538	HP:0001733	Pancreatitis
OMIM:232200	G6PC	2538	HP:0001892	Abnormal bleeding
OMIM:232200	G6PC	2538	HP:0003077	Hyperlipidemia
OMIM:232200	G6PC	2538	HP:0000093	Proteinuria
OMIM:232200	G6PC	2538	HP:0002910	Elevated hepatic transaminases
OMIM:232200	G6PC	2538	HP:0001538	Protuberant abdomen
OMIM:232200	G6PC	2538	HP:0001943	Hypoglycemia
OMIM:232200	G6PC	2538	HP:0000660	Lipemia retinalis
OMIM:232200	G6PC	2538	HP:0000991	Xanthomatosis
OMIM:232200	G6PC	2538	HP:0000939	Osteoporosis
OMIM:232200	G6PC	2538	HP:0002240	Hepatomegaly
OMIM:232200	G6PC	2538	HP:0004322	Short stature
OMIM:232200	G6PC	2538	HP:0000007	Autosomal recessive inheritance
OMIM:232200	G6PC	2538	HP:0000097	Focal segmental glomerulosclerosis
OMIM:232200	G6PC	2538	HP:0000822	Hypertension
OMIM:232200	G6PC	2538	HP:0003128	Lactic acidosis
OMIM:613013	PHOX2B	8929	HP:0002251	Aganglionic megacolon
OMIM:613013	PHOX2B	8929	HP:0006747	Ganglioneuroblastoma
OMIM:613013	PHOX2B	8929	HP:0003005	Ganglioneuroma
OMIM:613013	PHOX2B	8929	HP:0000006	Autosomal dominant inheritance
OMIM:613013	TOP2A	7153	HP:0002251	Aganglionic megacolon
OMIM:613013	TOP2A	7153	HP:0006747	Ganglioneuroblastoma
OMIM:613013	TOP2A	7153	HP:0003005	Ganglioneuroma
OMIM:613013	TOP2A	7153	HP:0000006	Autosomal dominant inheritance
OMIM:613013	MYCN	4613	HP:0002251	Aganglionic megacolon
OMIM:613013	MYCN	4613	HP:0006747	Ganglioneuroblastoma
OMIM:613013	MYCN	4613	HP:0003005	Ganglioneuroma
OMIM:613013	MYCN	4613	HP:0000006	Autosomal dominant inheritance
OMIM:613013	LIN28B	389421	HP:0002251	Aganglionic megacolon
OMIM:613013	LIN28B	389421	HP:0006747	Ganglioneuroblastoma
OMIM:613013	LIN28B	389421	HP:0003005	Ganglioneuroma
OMIM:613013	LIN28B	389421	HP:0000006	Autosomal dominant inheritance
OMIM:613013	HACE1	57531	HP:0002251	Aganglionic megacolon
OMIM:613013	HACE1	57531	HP:0006747	Ganglioneuroblastoma
OMIM:613013	HACE1	57531	HP:0003005	Ganglioneuroma
OMIM:613013	HACE1	57531	HP:0000006	Autosomal dominant inheritance
OMIM:613013	ALK	238	HP:0002251	Aganglionic megacolon
OMIM:613013	ALK	238	HP:0006747	Ganglioneuroblastoma
OMIM:613013	ALK	238	HP:0003005	Ganglioneuroma
OMIM:613013	ALK	238	HP:0000006	Autosomal dominant inheritance
OMIM:300123	SOX3	6658	HP:0001417	X-linked inheritance
OMIM:300123	SOX3	6658	HP:0000821	Hypothyroidism
OMIM:300123	SOX3	6658	HP:0001256	Intellectual disability, mild
OMIM:300123	SOX3	6658	HP:0001263	Global developmental delay
OMIM:300123	SOX3	6658	HP:0004322	Short stature
OMIM:300123	SOX3	6658	HP:0000824	Growth hormone deficiency
OMIM:108300	COL2A1	1280	HP:0001166	Arachnodactyly
OMIM:108300	COL2A1	1280	HP:0000405	Conductive hearing impairment
OMIM:108300	COL2A1	1280	HP:0002808	Kyphosis
OMIM:108300	COL2A1	1280	HP:0000618	Blindness
OMIM:108300	COL2A1	1280	HP:0000006	Autosomal dominant inheritance
OMIM:108300	COL2A1	1280	HP:0000926	Platyspondyly
OMIM:108300	COL2A1	1280	HP:0000767	Pectus excavatum
OMIM:108300	COL2A1	1280	HP:0040199	Flat midface
OMIM:108300	COL2A1	1280	HP:0000272	Malar flattening
OMIM:108300	COL2A1	1280	HP:0000541	Retinal detachment
OMIM:108300	COL2A1	1280	HP:0005280	Depressed nasal bridge
OMIM:108300	COL2A1	1280	HP:0000407	Sensorineural hearing impairment
OMIM:108300	COL2A1	1280	HP:0002650	Scoliosis
OMIM:108300	COL2A1	1280	HP:0000545	Myopia
OMIM:108300	COL2A1	1280	HP:0000501	Glaucoma
OMIM:108300	COL2A1	1280	HP:0001634	Mitral valve prolapse
OMIM:108300	COL2A1	1280	HP:0000175	Cleft palate
OMIM:108300	COL2A1	1280	HP:0000463	Anteverted nares
OMIM:108300	COL2A1	1280	HP:0000201	Pierre-Robin sequence
OMIM:108300	COL2A1	1280	HP:0000518	Cataract
OMIM:194533	ZNF35	7584	HP:0000006	Autosomal dominant inheritance
OMIM:194533	ZNF35	7584	HP:0002664	Neoplasm
OMIM:251600	VSX2	338917	HP:0000501	Glaucoma
OMIM:251600	VSX2	338917	HP:0008499	High-grade hypermetropia
OMIM:251600	VSX2	338917	HP:0000568	Microphthalmia
OMIM:251600	VSX2	338917	HP:0000528	Anophthalmia
OMIM:251600	VSX2	338917	HP:0000007	Autosomal recessive inheritance
OMIM:251600	SOX2	6657	HP:0000501	Glaucoma
OMIM:251600	SOX2	6657	HP:0008499	High-grade hypermetropia
OMIM:251600	SOX2	6657	HP:0000568	Microphthalmia
OMIM:251600	SOX2	6657	HP:0000528	Anophthalmia
OMIM:251600	SOX2	6657	HP:0000007	Autosomal recessive inheritance
OMIM:251600	GDF3	9573	HP:0000501	Glaucoma
OMIM:251600	GDF3	9573	HP:0008499	High-grade hypermetropia
OMIM:251600	GDF3	9573	HP:0000568	Microphthalmia
OMIM:251600	GDF3	9573	HP:0000528	Anophthalmia
OMIM:251600	GDF3	9573	HP:0000007	Autosomal recessive inheritance
OMIM:251600	OTX2	5015	HP:0000501	Glaucoma
OMIM:251600	OTX2	5015	HP:0008499	High-grade hypermetropia
OMIM:251600	OTX2	5015	HP:0000568	Microphthalmia
OMIM:251600	OTX2	5015	HP:0000528	Anophthalmia
OMIM:251600	OTX2	5015	HP:0000007	Autosomal recessive inheritance
OMIM:251600	PRSS56	646960	HP:0000501	Glaucoma
OMIM:251600	PRSS56	646960	HP:0008499	High-grade hypermetropia
OMIM:251600	PRSS56	646960	HP:0000568	Microphthalmia
OMIM:251600	PRSS56	646960	HP:0000528	Anophthalmia
OMIM:251600	PRSS56	646960	HP:0000007	Autosomal recessive inheritance
OMIM:251600	ALDH1A3	220	HP:0000501	Glaucoma
OMIM:251600	ALDH1A3	220	HP:0008499	High-grade hypermetropia
OMIM:251600	ALDH1A3	220	HP:0000568	Microphthalmia
OMIM:251600	ALDH1A3	220	HP:0000528	Anophthalmia
OMIM:251600	ALDH1A3	220	HP:0000007	Autosomal recessive inheritance
OMIM:251600	SIX6	4990	HP:0000501	Glaucoma
OMIM:251600	SIX6	4990	HP:0008499	High-grade hypermetropia
OMIM:251600	SIX6	4990	HP:0000568	Microphthalmia
OMIM:251600	SIX6	4990	HP:0000528	Anophthalmia
OMIM:251600	SIX6	4990	HP:0000007	Autosomal recessive inheritance
OMIM:251600	RAX	30062	HP:0000501	Glaucoma
OMIM:251600	RAX	30062	HP:0008499	High-grade hypermetropia
OMIM:251600	RAX	30062	HP:0000568	Microphthalmia
OMIM:251600	RAX	30062	HP:0000528	Anophthalmia
OMIM:251600	RAX	30062	HP:0000007	Autosomal recessive inheritance
OMIM:614192	RNF135	84282	HP:0001999	Abnormal facial shape
OMIM:614192	RNF135	84282	HP:0000337	Broad forehead
OMIM:614192	RNF135	84282	HP:0000455	Broad nasal tip
OMIM:614192	RNF135	84282	HP:0000006	Autosomal dominant inheritance
OMIM:614192	RNF135	84282	HP:0000343	Long philtrum
OMIM:614192	RNF135	84282	HP:0000219	Thin upper lip vermilion
OMIM:614192	RNF135	84282	HP:0000256	Macrocephaly
OMIM:614192	RNF135	84282	HP:0000494	Downslanted palpebral fissures
OMIM:615909	TSR2	90121	HP:0011463	Childhood onset
OMIM:615909	TSR2	90121	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPS17	6218	HP:0011463	Childhood onset
OMIM:615909	RPS17	6218	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPL26	6154	HP:0011463	Childhood onset
OMIM:615909	RPL26	6154	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPL5	6125	HP:0011463	Childhood onset
OMIM:615909	RPL5	6125	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPS19	6223	HP:0011463	Childhood onset
OMIM:615909	RPS19	6223	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPS24	6229	HP:0011463	Childhood onset
OMIM:615909	RPS24	6229	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPL35A	6165	HP:0011463	Childhood onset
OMIM:615909	RPL35A	6165	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPL11	6135	HP:0011463	Childhood onset
OMIM:615909	RPL11	6135	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPS26	6231	HP:0011463	Childhood onset
OMIM:615909	RPS26	6231	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPS7	6201	HP:0011463	Childhood onset
OMIM:615909	RPS7	6201	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPL15	6138	HP:0011463	Childhood onset
OMIM:615909	RPL15	6138	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPS28	6234	HP:0011463	Childhood onset
OMIM:615909	RPS28	6234	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPS29	6235	HP:0011463	Childhood onset
OMIM:615909	RPS29	6235	HP:0000006	Autosomal dominant inheritance
OMIM:615909	RPS10	6204	HP:0011463	Childhood onset
OMIM:615909	RPS10	6204	HP:0000006	Autosomal dominant inheritance
OMIM:615909	GATA1	2623	HP:0011463	Childhood onset
OMIM:615909	GATA1	2623	HP:0000006	Autosomal dominant inheritance
ORPHANET:79455	KIT	3815	HP:0002027	Abdominal pain
ORPHANET:79455	KIT	3815	HP:0001025	Urticaria
ORPHANET:79455	KIT	3815	HP:0002076	Migraine
ORPHANET:79455	KIT	3815	HP:0001034	Hypermelanotic macule
ORPHANET:79455	KIT	3815	HP:0001072	Thickened skin
ORPHANET:79455	KIT	3815	HP:0000989	Pruritus
OMIM:614017	DNAAF2	55172	HP:0003577	Congenital onset
OMIM:614017	DNAAF2	55172	HP:0011109	Chronic sinusitis
OMIM:614017	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DNAAF2	55172	HP:0012262	Abnormal ciliary motility
OMIM:614017	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:614017	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:614017	CCNO	10309	HP:0003577	Congenital onset
OMIM:614017	CCNO	10309	HP:0011109	Chronic sinusitis
OMIM:614017	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:614017	CCNO	10309	HP:0012262	Abnormal ciliary motility
OMIM:614017	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:614017	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:614017	DNAAF5	54919	HP:0003577	Congenital onset
OMIM:614017	DNAAF5	54919	HP:0011109	Chronic sinusitis
OMIM:614017	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DNAAF5	54919	HP:0012262	Abnormal ciliary motility
OMIM:614017	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:614017	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:614017	DNAAF3	352909	HP:0003577	Congenital onset
OMIM:614017	DNAAF3	352909	HP:0011109	Chronic sinusitis
OMIM:614017	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DNAAF3	352909	HP:0012262	Abnormal ciliary motility
OMIM:614017	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:614017	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:614017	DNAI1	27019	HP:0003577	Congenital onset
OMIM:614017	DNAI1	27019	HP:0011109	Chronic sinusitis
OMIM:614017	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DNAI1	27019	HP:0012262	Abnormal ciliary motility
OMIM:614017	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:614017	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:614017	DRC1	92749	HP:0003577	Congenital onset
OMIM:614017	DRC1	92749	HP:0011109	Chronic sinusitis
OMIM:614017	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DRC1	92749	HP:0012262	Abnormal ciliary motility
OMIM:614017	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:614017	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:614017	SPAG1	6674	HP:0003577	Congenital onset
OMIM:614017	SPAG1	6674	HP:0011109	Chronic sinusitis
OMIM:614017	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:614017	SPAG1	6674	HP:0012262	Abnormal ciliary motility
OMIM:614017	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:614017	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:614017	RSPH3	83861	HP:0003577	Congenital onset
OMIM:614017	RSPH3	83861	HP:0011109	Chronic sinusitis
OMIM:614017	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:614017	RSPH3	83861	HP:0012262	Abnormal ciliary motility
OMIM:614017	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:614017	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:614017	RPGR	6103	HP:0003577	Congenital onset
OMIM:614017	RPGR	6103	HP:0011109	Chronic sinusitis
OMIM:614017	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:614017	RPGR	6103	HP:0012262	Abnormal ciliary motility
OMIM:614017	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:614017	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:614017	LRRC6	23639	HP:0003577	Congenital onset
OMIM:614017	LRRC6	23639	HP:0011109	Chronic sinusitis
OMIM:614017	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:614017	LRRC6	23639	HP:0012262	Abnormal ciliary motility
OMIM:614017	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:614017	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:614017	DNAL1	83544	HP:0003577	Congenital onset
OMIM:614017	DNAL1	83544	HP:0011109	Chronic sinusitis
OMIM:614017	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DNAL1	83544	HP:0012262	Abnormal ciliary motility
OMIM:614017	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:614017	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:614017	ARMC4	55130	HP:0003577	Congenital onset
OMIM:614017	ARMC4	55130	HP:0011109	Chronic sinusitis
OMIM:614017	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:614017	ARMC4	55130	HP:0012262	Abnormal ciliary motility
OMIM:614017	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:614017	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:614017	CCDC103	388389	HP:0003577	Congenital onset
OMIM:614017	CCDC103	388389	HP:0011109	Chronic sinusitis
OMIM:614017	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:614017	CCDC103	388389	HP:0012262	Abnormal ciliary motility
OMIM:614017	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:614017	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:614017	OFD1	8481	HP:0003577	Congenital onset
OMIM:614017	OFD1	8481	HP:0011109	Chronic sinusitis
OMIM:614017	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:614017	OFD1	8481	HP:0012262	Abnormal ciliary motility
OMIM:614017	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:614017	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:614017	DNAAF1	123872	HP:0003577	Congenital onset
OMIM:614017	DNAAF1	123872	HP:0011109	Chronic sinusitis
OMIM:614017	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DNAAF1	123872	HP:0012262	Abnormal ciliary motility
OMIM:614017	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:614017	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:614017	RSPH4A	345895	HP:0003577	Congenital onset
OMIM:614017	RSPH4A	345895	HP:0011109	Chronic sinusitis
OMIM:614017	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:614017	RSPH4A	345895	HP:0012262	Abnormal ciliary motility
OMIM:614017	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:614017	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:614017	RSPH1	89765	HP:0003577	Congenital onset
OMIM:614017	RSPH1	89765	HP:0011109	Chronic sinusitis
OMIM:614017	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:614017	RSPH1	89765	HP:0012262	Abnormal ciliary motility
OMIM:614017	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:614017	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:614017	ZMYND10	51364	HP:0003577	Congenital onset
OMIM:614017	ZMYND10	51364	HP:0011109	Chronic sinusitis
OMIM:614017	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:614017	ZMYND10	51364	HP:0012262	Abnormal ciliary motility
OMIM:614017	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:614017	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:614017	DNAH5	1767	HP:0003577	Congenital onset
OMIM:614017	DNAH5	1767	HP:0011109	Chronic sinusitis
OMIM:614017	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DNAH5	1767	HP:0012262	Abnormal ciliary motility
OMIM:614017	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:614017	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:614017	CCDC65	85478	HP:0003577	Congenital onset
OMIM:614017	CCDC65	85478	HP:0011109	Chronic sinusitis
OMIM:614017	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:614017	CCDC65	85478	HP:0012262	Abnormal ciliary motility
OMIM:614017	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:614017	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:614017	C21ORF59	56683	HP:0003577	Congenital onset
OMIM:614017	C21ORF59	56683	HP:0011109	Chronic sinusitis
OMIM:614017	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:614017	C21ORF59	56683	HP:0012262	Abnormal ciliary motility
OMIM:614017	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:614017	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:614017	DYX1C1	161582	HP:0003577	Congenital onset
OMIM:614017	DYX1C1	161582	HP:0011109	Chronic sinusitis
OMIM:614017	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DYX1C1	161582	HP:0012262	Abnormal ciliary motility
OMIM:614017	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:614017	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:614017	CCDC151	115948	HP:0003577	Congenital onset
OMIM:614017	CCDC151	115948	HP:0011109	Chronic sinusitis
OMIM:614017	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:614017	CCDC151	115948	HP:0012262	Abnormal ciliary motility
OMIM:614017	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:614017	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:614017	RSPH9	221421	HP:0003577	Congenital onset
OMIM:614017	RSPH9	221421	HP:0011109	Chronic sinusitis
OMIM:614017	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:614017	RSPH9	221421	HP:0012262	Abnormal ciliary motility
OMIM:614017	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:614017	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:614017	CCDC39	339829	HP:0003577	Congenital onset
OMIM:614017	CCDC39	339829	HP:0011109	Chronic sinusitis
OMIM:614017	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:614017	CCDC39	339829	HP:0012262	Abnormal ciliary motility
OMIM:614017	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:614017	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:614017	HYDIN	54768	HP:0003577	Congenital onset
OMIM:614017	HYDIN	54768	HP:0011109	Chronic sinusitis
OMIM:614017	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:614017	HYDIN	54768	HP:0012262	Abnormal ciliary motility
OMIM:614017	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:614017	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:614017	CCDC114	93233	HP:0003577	Congenital onset
OMIM:614017	CCDC114	93233	HP:0011109	Chronic sinusitis
OMIM:614017	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:614017	CCDC114	93233	HP:0012262	Abnormal ciliary motility
OMIM:614017	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:614017	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:614017	NME8	51314	HP:0003577	Congenital onset
OMIM:614017	NME8	51314	HP:0011109	Chronic sinusitis
OMIM:614017	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:614017	NME8	51314	HP:0012262	Abnormal ciliary motility
OMIM:614017	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:614017	NME8	51314	HP:0002110	Bronchiectasis
OMIM:614017	CCDC40	55036	HP:0003577	Congenital onset
OMIM:614017	CCDC40	55036	HP:0011109	Chronic sinusitis
OMIM:614017	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:614017	CCDC40	55036	HP:0012262	Abnormal ciliary motility
OMIM:614017	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:614017	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:614017	DNAH11	8701	HP:0003577	Congenital onset
OMIM:614017	DNAH11	8701	HP:0011109	Chronic sinusitis
OMIM:614017	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DNAH11	8701	HP:0012262	Abnormal ciliary motility
OMIM:614017	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:614017	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:614017	DNAI2	64446	HP:0003577	Congenital onset
OMIM:614017	DNAI2	64446	HP:0011109	Chronic sinusitis
OMIM:614017	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:614017	DNAI2	64446	HP:0012262	Abnormal ciliary motility
OMIM:614017	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:614017	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:614017	GAS8	2622	HP:0003577	Congenital onset
OMIM:614017	GAS8	2622	HP:0011109	Chronic sinusitis
OMIM:614017	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:614017	GAS8	2622	HP:0012262	Abnormal ciliary motility
OMIM:614017	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:614017	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:231950	GGT1	2678	HP:0001249	Intellectual disability
OMIM:231950	GGT1	2678	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:231950	GGT1	2678	HP:0000007	Autosomal recessive inheritance
OMIM:612073	SUCLA2	8803	HP:0001332	Dystonia
OMIM:612073	SUCLA2	8803	HP:0000708	Behavioral abnormality
OMIM:612073	SUCLA2	8803	HP:0000252	Microcephaly
OMIM:612073	SUCLA2	8803	HP:0000505	Visual impairment
OMIM:612073	SUCLA2	8803	HP:0000508	Ptosis
OMIM:612073	SUCLA2	8803	HP:0002134	Abnormality of the basal ganglia
OMIM:612073	SUCLA2	8803	HP:0001252	Muscular hypotonia
OMIM:612073	SUCLA2	8803	HP:0003202	Skeletal muscle atrophy
OMIM:612073	SUCLA2	8803	HP:0002514	Cerebral calcification
OMIM:612073	SUCLA2	8803	HP:0000512	Abnormal electroretinogram
OMIM:612073	SUCLA2	8803	HP:0000649	Abnormality of visual evoked potentials
OMIM:612073	SUCLA2	8803	HP:0000737	Irritability
OMIM:612073	SUCLA2	8803	HP:0008872	Feeding difficulties in infancy
OMIM:612073	SUCLA2	8803	HP:0000365	Hearing impairment
OMIM:612073	SUCLA2	8803	HP:0000998	Hypertrichosis
OMIM:612073	SUCLA2	8803	HP:0002912	Methylmalonic acidemia
OMIM:612073	SUCLA2	8803	HP:0000007	Autosomal recessive inheritance
OMIM:612073	SUCLA2	8803	HP:0003355	Aminoaciduria
OMIM:612073	SUCLA2	8803	HP:0000602	Ophthalmoplegia
OMIM:612073	SUCLA2	8803	HP:0000762	Decreased nerve conduction velocity
OMIM:612073	SUCLA2	8803	HP:0003236	Elevated serum creatine phosphokinase
OMIM:612073	SUCLA2	8803	HP:0100543	Cognitive impairment
OMIM:612073	SUCLA2	8803	HP:0001250	Seizures
OMIM:612073	SUCLA2	8803	HP:0004325	Decreased body weight
OMIM:612073	SUCLA2	8803	HP:0000486	Strabismus
OMIM:612073	SUCLA2	8803	HP:0003593	Infantile onset
OMIM:612073	SUCLA2	8803	HP:0006887	Intellectual disability, progressive
OMIM:612073	SUCLA2	8803	HP:0002305	Athetosis
OMIM:612073	SUCLA2	8803	HP:0001257	Spasticity
OMIM:612073	SUCLA2	8803	HP:0001265	Hyporeflexia
OMIM:612073	SUCLA2	8803	HP:0001315	Reduced tendon reflexes
OMIM:612073	SUCLA2	8803	HP:0002448	Progressive encephalopathy
OMIM:612073	SUCLA2	8803	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:612073	SUCLA2	8803	HP:0002311	Incoordination
OMIM:612073	SUCLA2	8803	HP:0003128	Lactic acidosis
OMIM:612073	SUCLA2	8803	HP:0002059	Cerebral atrophy
OMIM:612073	SUCLA2	8803	HP:0002119	Ventriculomegaly
OMIM:612073	SUCLA2	8803	HP:0009830	Peripheral neuropathy
OMIM:612073	SUCLA2	8803	HP:0001263	Global developmental delay
OMIM:612073	SUCLA2	8803	HP:0004322	Short stature
OMIM:612073	SUCLA2	8803	HP:0002194	Delayed gross motor development
OMIM:612073	SUCLA2	8803	HP:0012120	Methylmalonic aciduria
OMIM:612073	SUCLA2	8803	HP:0000407	Sensorineural hearing impairment
OMIM:612073	SUCLA2	8803	HP:0001508	Failure to thrive
OMIM:136760	ALX3	257	HP:0000286	Epicanthus
OMIM:136760	ALX3	257	HP:0005258	Pectoral muscle hypoplasia/aplasia
OMIM:136760	ALX3	257	HP:0000518	Cataract
OMIM:136760	ALX3	257	HP:0000431	Wide nasal bridge
OMIM:136760	ALX3	257	HP:0003745	Sporadic
OMIM:136760	ALX3	257	HP:0000589	Coloboma
OMIM:136760	ALX3	257	HP:0009473	Joint contracture of the hand
OMIM:136760	ALX3	257	HP:0009099	Median cleft palate
OMIM:136760	ALX3	257	HP:0001249	Intellectual disability
OMIM:136760	ALX3	257	HP:0000508	Ptosis
OMIM:136760	ALX3	257	HP:0000455	Broad nasal tip
OMIM:136760	ALX3	257	HP:0030084	Clinodactyly
OMIM:136760	ALX3	257	HP:0000369	Low-set ears
OMIM:136760	ALX3	257	HP:0000327	Hypoplasia of the maxilla
OMIM:136760	ALX3	257	HP:0001156	Brachydactyly syndrome
OMIM:136760	ALX3	257	HP:0001274	Agenesis of corpus callosum
OMIM:136760	ALX3	257	HP:0001636	Tetralogy of Fallot
OMIM:136760	ALX3	257	HP:0000161	Median cleft lip
OMIM:136760	ALX3	257	HP:0001162	Postaxial hand polydactyly
OMIM:136760	ALX3	257	HP:0012385	Camptodactyly
OMIM:136760	ALX3	257	HP:0000316	Hypertelorism
OMIM:136760	ALX3	257	HP:0000384	Preauricular skin tag
OMIM:136760	ALX3	257	HP:0000405	Conductive hearing impairment
OMIM:136760	ALX3	257	HP:0000568	Microphthalmia
OMIM:136760	ALX3	257	HP:0009466	Radial deviation of finger
OMIM:116920	ITGB2	3689	HP:0001974	Leukocytosis
OMIM:116920	ITGB2	3689	HP:0005420	Recurrent gram-negative bacterial infections
OMIM:116920	ITGB2	3689	HP:0000007	Autosomal recessive inheritance
OMIM:116920	ITGB2	3689	HP:0000704	Periodontitis
OMIM:116920	ITGB2	3689	HP:0005224	Rectal abscess
OMIM:116920	ITGB2	3689	HP:0007499	Recurrent staphylococcal infections
OMIM:116920	ITGB2	3689	HP:0000230	Gingivitis
OMIM:614882	PEX19	5824	HP:0001522	Death in infancy
OMIM:614882	PEX19	5824	HP:0001250	Seizures
OMIM:614882	PEX19	5824	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX19	5824	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX19	5824	HP:0011968	Feeding difficulties
OMIM:614882	PEX19	5824	HP:0011344	Severe global developmental delay
OMIM:614882	PEX19	5824	HP:0000348	High forehead
OMIM:614882	PEX19	5824	HP:0000316	Hypertelorism
OMIM:614882	PEX19	5824	HP:0002240	Hepatomegaly
OMIM:614882	PEX19	5824	HP:0000337	Broad forehead
OMIM:614882	PEX16	9409	HP:0001522	Death in infancy
OMIM:614882	PEX16	9409	HP:0001250	Seizures
OMIM:614882	PEX16	9409	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX16	9409	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX16	9409	HP:0011968	Feeding difficulties
OMIM:614882	PEX16	9409	HP:0011344	Severe global developmental delay
OMIM:614882	PEX16	9409	HP:0000348	High forehead
OMIM:614882	PEX16	9409	HP:0000316	Hypertelorism
OMIM:614882	PEX16	9409	HP:0002240	Hepatomegaly
OMIM:614882	PEX16	9409	HP:0000337	Broad forehead
OMIM:614882	PEX2	5828	HP:0001522	Death in infancy
OMIM:614882	PEX2	5828	HP:0001250	Seizures
OMIM:614882	PEX2	5828	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX2	5828	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX2	5828	HP:0011968	Feeding difficulties
OMIM:614882	PEX2	5828	HP:0011344	Severe global developmental delay
OMIM:614882	PEX2	5828	HP:0000348	High forehead
OMIM:614882	PEX2	5828	HP:0000316	Hypertelorism
OMIM:614882	PEX2	5828	HP:0002240	Hepatomegaly
OMIM:614882	PEX2	5828	HP:0000337	Broad forehead
OMIM:614882	PEX1	5189	HP:0001522	Death in infancy
OMIM:614882	PEX1	5189	HP:0001250	Seizures
OMIM:614882	PEX1	5189	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX1	5189	HP:0011968	Feeding difficulties
OMIM:614882	PEX1	5189	HP:0011344	Severe global developmental delay
OMIM:614882	PEX1	5189	HP:0000348	High forehead
OMIM:614882	PEX1	5189	HP:0000316	Hypertelorism
OMIM:614882	PEX1	5189	HP:0002240	Hepatomegaly
OMIM:614882	PEX1	5189	HP:0000337	Broad forehead
OMIM:614882	PEX5	5830	HP:0001522	Death in infancy
OMIM:614882	PEX5	5830	HP:0001250	Seizures
OMIM:614882	PEX5	5830	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX5	5830	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX5	5830	HP:0011968	Feeding difficulties
OMIM:614882	PEX5	5830	HP:0011344	Severe global developmental delay
OMIM:614882	PEX5	5830	HP:0000348	High forehead
OMIM:614882	PEX5	5830	HP:0000316	Hypertelorism
OMIM:614882	PEX5	5830	HP:0002240	Hepatomegaly
OMIM:614882	PEX5	5830	HP:0000337	Broad forehead
OMIM:614882	PEX6	5190	HP:0001522	Death in infancy
OMIM:614882	PEX6	5190	HP:0001250	Seizures
OMIM:614882	PEX6	5190	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX6	5190	HP:0011968	Feeding difficulties
OMIM:614882	PEX6	5190	HP:0011344	Severe global developmental delay
OMIM:614882	PEX6	5190	HP:0000348	High forehead
OMIM:614882	PEX6	5190	HP:0000316	Hypertelorism
OMIM:614882	PEX6	5190	HP:0002240	Hepatomegaly
OMIM:614882	PEX6	5190	HP:0000337	Broad forehead
OMIM:614882	PEX10	5192	HP:0001522	Death in infancy
OMIM:614882	PEX10	5192	HP:0001250	Seizures
OMIM:614882	PEX10	5192	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX10	5192	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX10	5192	HP:0011968	Feeding difficulties
OMIM:614882	PEX10	5192	HP:0011344	Severe global developmental delay
OMIM:614882	PEX10	5192	HP:0000348	High forehead
OMIM:614882	PEX10	5192	HP:0000316	Hypertelorism
OMIM:614882	PEX10	5192	HP:0002240	Hepatomegaly
OMIM:614882	PEX10	5192	HP:0000337	Broad forehead
OMIM:614882	PEX12	5193	HP:0001522	Death in infancy
OMIM:614882	PEX12	5193	HP:0001250	Seizures
OMIM:614882	PEX12	5193	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX12	5193	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX12	5193	HP:0011968	Feeding difficulties
OMIM:614882	PEX12	5193	HP:0011344	Severe global developmental delay
OMIM:614882	PEX12	5193	HP:0000348	High forehead
OMIM:614882	PEX12	5193	HP:0000316	Hypertelorism
OMIM:614882	PEX12	5193	HP:0002240	Hepatomegaly
OMIM:614882	PEX12	5193	HP:0000337	Broad forehead
OMIM:614882	PEX13	5194	HP:0001522	Death in infancy
OMIM:614882	PEX13	5194	HP:0001250	Seizures
OMIM:614882	PEX13	5194	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX13	5194	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX13	5194	HP:0011968	Feeding difficulties
OMIM:614882	PEX13	5194	HP:0011344	Severe global developmental delay
OMIM:614882	PEX13	5194	HP:0000348	High forehead
OMIM:614882	PEX13	5194	HP:0000316	Hypertelorism
OMIM:614882	PEX13	5194	HP:0002240	Hepatomegaly
OMIM:614882	PEX13	5194	HP:0000337	Broad forehead
OMIM:614882	PEX14	5195	HP:0001522	Death in infancy
OMIM:614882	PEX14	5195	HP:0001250	Seizures
OMIM:614882	PEX14	5195	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX14	5195	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX14	5195	HP:0011968	Feeding difficulties
OMIM:614882	PEX14	5195	HP:0011344	Severe global developmental delay
OMIM:614882	PEX14	5195	HP:0000348	High forehead
OMIM:614882	PEX14	5195	HP:0000316	Hypertelorism
OMIM:614882	PEX14	5195	HP:0002240	Hepatomegaly
OMIM:614882	PEX14	5195	HP:0000337	Broad forehead
OMIM:614882	PEX26	55670	HP:0001522	Death in infancy
OMIM:614882	PEX26	55670	HP:0001250	Seizures
OMIM:614882	PEX26	55670	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX26	55670	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX26	55670	HP:0011968	Feeding difficulties
OMIM:614882	PEX26	55670	HP:0011344	Severe global developmental delay
OMIM:614882	PEX26	55670	HP:0000348	High forehead
OMIM:614882	PEX26	55670	HP:0000316	Hypertelorism
OMIM:614882	PEX26	55670	HP:0002240	Hepatomegaly
OMIM:614882	PEX26	55670	HP:0000337	Broad forehead
OMIM:614882	PEX3	8504	HP:0001522	Death in infancy
OMIM:614882	PEX3	8504	HP:0001250	Seizures
OMIM:614882	PEX3	8504	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX3	8504	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX3	8504	HP:0011968	Feeding difficulties
OMIM:614882	PEX3	8504	HP:0011344	Severe global developmental delay
OMIM:614882	PEX3	8504	HP:0000348	High forehead
OMIM:614882	PEX3	8504	HP:0000316	Hypertelorism
OMIM:614882	PEX3	8504	HP:0002240	Hepatomegaly
OMIM:614882	PEX3	8504	HP:0000337	Broad forehead
OMIM:614882	PEX11B	8799	HP:0001522	Death in infancy
OMIM:614882	PEX11B	8799	HP:0001250	Seizures
OMIM:614882	PEX11B	8799	HP:0010655	Epiphyseal stippling
OMIM:614882	PEX11B	8799	HP:0000007	Autosomal recessive inheritance
OMIM:614882	PEX11B	8799	HP:0011968	Feeding difficulties
OMIM:614882	PEX11B	8799	HP:0011344	Severe global developmental delay
OMIM:614882	PEX11B	8799	HP:0000348	High forehead
OMIM:614882	PEX11B	8799	HP:0000316	Hypertelorism
OMIM:614882	PEX11B	8799	HP:0002240	Hepatomegaly
OMIM:614882	PEX11B	8799	HP:0000337	Broad forehead
OMIM:601378	CLCF1	23529	HP:0000343	Long philtrum
OMIM:601378	CLCF1	23529	HP:0000463	Anteverted nares
OMIM:601378	CLCF1	23529	HP:0100543	Cognitive impairment
OMIM:601378	CLCF1	23529	HP:0000293	Full cheeks
OMIM:601378	CLCF1	23529	HP:0002808	Kyphosis
OMIM:601378	CLCF1	23529	HP:0000160	Narrow mouth
OMIM:601378	CLCF1	23529	HP:0100490	Camptodactyly of finger
OMIM:601378	CLCF1	23529	HP:0000174	Abnormality of the palate
OMIM:601378	CLCF1	23529	HP:0000966	Hypohidrosis
OMIM:601378	CLCF1	23529	HP:0002093	Respiratory insufficiency
OMIM:601378	CLCF1	23529	HP:0000347	Micrognathia
OMIM:601378	CLCF1	23529	HP:0001276	Hypertonia
OMIM:601378	CLCF1	23529	HP:0001250	Seizures
OMIM:601378	CLCF1	23529	HP:0000975	Hyperhidrosis
OMIM:601378	CLCF1	23529	HP:0001645	Sudden cardiac death
OMIM:601378	CLCF1	23529	HP:0002650	Scoliosis
OMIM:601378	CLCF1	23529	HP:0001376	Limitation of joint mobility
OMIM:601378	CLCF1	23529	HP:0100729	Large face
OMIM:601378	CRLF1	9244	HP:0000343	Long philtrum
OMIM:601378	CRLF1	9244	HP:0000463	Anteverted nares
OMIM:601378	CRLF1	9244	HP:0100543	Cognitive impairment
OMIM:601378	CRLF1	9244	HP:0000293	Full cheeks
OMIM:601378	CRLF1	9244	HP:0002808	Kyphosis
OMIM:601378	CRLF1	9244	HP:0000160	Narrow mouth
OMIM:601378	CRLF1	9244	HP:0100490	Camptodactyly of finger
OMIM:601378	CRLF1	9244	HP:0000174	Abnormality of the palate
OMIM:601378	CRLF1	9244	HP:0000966	Hypohidrosis
OMIM:601378	CRLF1	9244	HP:0002093	Respiratory insufficiency
OMIM:601378	CRLF1	9244	HP:0000347	Micrognathia
OMIM:601378	CRLF1	9244	HP:0001276	Hypertonia
OMIM:601378	CRLF1	9244	HP:0001250	Seizures
OMIM:601378	CRLF1	9244	HP:0000975	Hyperhidrosis
OMIM:601378	CRLF1	9244	HP:0001645	Sudden cardiac death
OMIM:601378	CRLF1	9244	HP:0002650	Scoliosis
OMIM:601378	CRLF1	9244	HP:0001376	Limitation of joint mobility
OMIM:601378	CRLF1	9244	HP:0100729	Large face
OMIM:615476	SZT2	23334	HP:0007359	Focal seizures
OMIM:615476	SZT2	23334	HP:0000348	High forehead
OMIM:615476	SZT2	23334	HP:0000508	Ptosis
OMIM:615476	SZT2	23334	HP:0000494	Downslanted palpebral fissures
OMIM:615476	SZT2	23334	HP:0002121	Absence seizures
OMIM:615476	SZT2	23334	HP:0002353	EEG abnormality
OMIM:615476	SZT2	23334	HP:0002553	Highly arched eyebrow
OMIM:615476	SZT2	23334	HP:0000007	Autosomal recessive inheritance
OMIM:615476	SZT2	23334	HP:0001263	Global developmental delay
OMIM:615476	SZT2	23334	HP:0001252	Muscular hypotonia
OMIM:615476	SZT2	23334	HP:0001265	Hyporeflexia
OMIM:615476	SZT2	23334	HP:0200134	Epileptic encephalopathy
OMIM:609583	NPHP1	4867	HP:0002404	Thickened superior cerebellar peduncle
OMIM:609583	NPHP1	4867	HP:0000007	Autosomal recessive inheritance
OMIM:609583	NPHP1	4867	HP:0011933	Elongated superior cerebellar peduncle
OMIM:609583	NPHP1	4867	HP:0000571	Hypometric saccades
OMIM:609583	NPHP1	4867	HP:0000639	Nystagmus
OMIM:609583	NPHP1	4867	HP:0001320	Cerebellar vermis hypoplasia
OMIM:609583	NPHP1	4867	HP:0002419	Molar tooth sign on MRI
OMIM:609583	NPHP1	4867	HP:0001251	Ataxia
OMIM:609583	NPHP1	4867	HP:0000083	Renal insufficiency
OMIM:609583	NPHP1	4867	HP:0000090	Nephronophthisis
OMIM:609583	NPHP1	4867	HP:0001252	Muscular hypotonia
OMIM:609583	NPHP1	4867	HP:0000657	Oculomotor apraxia
OMIM:609583	NPHP1	4867	HP:0002194	Delayed gross motor development
OMIM:609583	NPHP1	4867	HP:0100543	Cognitive impairment
OMIM:609583	TMEM237	65062	HP:0002404	Thickened superior cerebellar peduncle
OMIM:609583	TMEM237	65062	HP:0000007	Autosomal recessive inheritance
OMIM:609583	TMEM237	65062	HP:0011933	Elongated superior cerebellar peduncle
OMIM:609583	TMEM237	65062	HP:0000571	Hypometric saccades
OMIM:609583	TMEM237	65062	HP:0000639	Nystagmus
OMIM:609583	TMEM237	65062	HP:0001320	Cerebellar vermis hypoplasia
OMIM:609583	TMEM237	65062	HP:0002419	Molar tooth sign on MRI
OMIM:609583	TMEM237	65062	HP:0001251	Ataxia
OMIM:609583	TMEM237	65062	HP:0000083	Renal insufficiency
OMIM:609583	TMEM237	65062	HP:0000090	Nephronophthisis
OMIM:609583	TMEM237	65062	HP:0001252	Muscular hypotonia
OMIM:609583	TMEM237	65062	HP:0000657	Oculomotor apraxia
OMIM:609583	TMEM237	65062	HP:0002194	Delayed gross motor development
OMIM:609583	TMEM237	65062	HP:0100543	Cognitive impairment
OMIM:609583	RPGRIP1L	23322	HP:0002404	Thickened superior cerebellar peduncle
OMIM:609583	RPGRIP1L	23322	HP:0000007	Autosomal recessive inheritance
OMIM:609583	RPGRIP1L	23322	HP:0011933	Elongated superior cerebellar peduncle
OMIM:609583	RPGRIP1L	23322	HP:0000571	Hypometric saccades
OMIM:609583	RPGRIP1L	23322	HP:0000639	Nystagmus
OMIM:609583	RPGRIP1L	23322	HP:0001320	Cerebellar vermis hypoplasia
OMIM:609583	RPGRIP1L	23322	HP:0002419	Molar tooth sign on MRI
OMIM:609583	RPGRIP1L	23322	HP:0001251	Ataxia
OMIM:609583	RPGRIP1L	23322	HP:0000083	Renal insufficiency
OMIM:609583	RPGRIP1L	23322	HP:0000090	Nephronophthisis
OMIM:609583	RPGRIP1L	23322	HP:0001252	Muscular hypotonia
OMIM:609583	RPGRIP1L	23322	HP:0000657	Oculomotor apraxia
OMIM:609583	RPGRIP1L	23322	HP:0002194	Delayed gross motor development
OMIM:609583	RPGRIP1L	23322	HP:0100543	Cognitive impairment
OMIM:610984	CFI	3426	HP:0005381	Recurrent meningococcal disease
OMIM:610984	CFI	3426	HP:0011108	Recurrent sinusitis
OMIM:610984	CFI	3426	HP:0012330	Pyelonephritis
OMIM:610984	CFI	3426	HP:0000083	Renal insufficiency
OMIM:610984	CFI	3426	HP:0000099	Glomerulonephritis
OMIM:610984	CFI	3426	HP:0005356	Decreased serum complement factor I
OMIM:610984	CFI	3426	HP:0005376	Recurrent Haemophilus influenzae infections
OMIM:610984	CFI	3426	HP:0001369	Arthritis
OMIM:610984	CFI	3426	HP:0005421	Decreased serum complement C3
OMIM:610984	CFI	3426	HP:0000010	Recurrent urinary tract infections
OMIM:610984	CFI	3426	HP:0002633	Vasculitis
OMIM:610984	CFI	3426	HP:0005416	Decreased serum complement factor B
OMIM:610984	CFI	3426	HP:0000007	Autosomal recessive inheritance
OMIM:610984	CFI	3426	HP:0005369	Decreased serum complement factor H
OMIM:610984	CFI	3426	HP:0003621	Juvenile onset
OMIM:610984	CFI	3426	HP:0000403	Recurrent otitis media
OMIM:610984	CFI	3426	HP:0001581	Recurrent skin infections
OMIM:610984	CFI	3426	HP:0006946	Recurrent meningitis
OMIM:610984	CFI	3426	HP:0005366	Recurrent streptococcus pneumoniae infections
OMIM:201710	STAR	6770	HP:0000047	Hypospadias
OMIM:201710	STAR	6770	HP:0000007	Autosomal recessive inheritance
OMIM:608747	IGF1	3479	HP:0004325	Decreased body weight
OMIM:608747	IGF1	3479	HP:0000007	Autosomal recessive inheritance
OMIM:608747	IGF1	3479	HP:0000736	Short attention span
OMIM:608747	IGF1	3479	HP:0000508	Ptosis
OMIM:608747	IGF1	3479	HP:0001270	Motor delay
OMIM:608747	IGF1	3479	HP:0000347	Micrognathia
OMIM:608747	IGF1	3479	HP:0001249	Intellectual disability
OMIM:608747	IGF1	3479	HP:0004322	Short stature
OMIM:608747	IGF1	3479	HP:0003577	Congenital onset
OMIM:608747	IGF1	3479	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:608747	IGF1	3479	HP:0002750	Delayed skeletal maturation
OMIM:608747	IGF1	3479	HP:0001511	Intrauterine growth retardation
OMIM:608747	IGF1	3479	HP:0000252	Microcephaly
OMIM:608747	IGF1	3479	HP:0000407	Sensorineural hearing impairment
OMIM:608747	IGF1	3479	HP:0000752	Hyperactivity
OMIM:608747	IGF1	3479	HP:0000938	Osteopenia
OMIM:608747	IGF1	3479	HP:0009466	Radial deviation of finger
OMIM:608747	IGF1	3479	HP:0030084	Clinodactyly
OMIM:261650	PCK2	5106	HP:0000007	Autosomal recessive inheritance
OMIM:261650	PCK2	5106	HP:0001943	Hypoglycemia
OMIM:261650	PCK2	5106	HP:0001397	Hepatic steatosis
OMIM:261650	PCK2	5106	HP:0001399	Hepatic failure
OMIM:193400	VWF	7450	HP:0001650	Aortic valve stenosis
OMIM:193400	VWF	7450	HP:0000421	Epistaxis
OMIM:193400	VWF	7450	HP:0000006	Autosomal dominant inheritance
OMIM:193400	VWF	7450	HP:0000978	Bruising susceptibility
OMIM:193400	VWF	7450	HP:0001634	Mitral valve prolapse
OMIM:193400	VWF	7450	HP:0003010	Prolonged bleeding time
OMIM:193400	VWF	7450	HP:0003829	Incomplete penetrance
OMIM:193400	VWF	7450	HP:0003540	Impaired platelet aggregation
OMIM:193400	VWF	7450	HP:0002239	Gastrointestinal hemorrhage
ORPHANET:1340	BRAF	673	HP:0000175	Cleft palate
ORPHANET:1340	BRAF	673	HP:0000470	Short neck
ORPHANET:1340	BRAF	673	HP:0000998	Hypertrichosis
ORPHANET:1340	BRAF	673	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:1340	BRAF	673	HP:0005280	Depressed nasal bridge
ORPHANET:1340	BRAF	673	HP:0000499	Abnormality of the eyelashes
ORPHANET:1340	BRAF	673	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:1340	BRAF	673	HP:0000256	Macrocephaly
ORPHANET:1340	BRAF	673	HP:0000974	Hyperextensible skin
ORPHANET:1340	BRAF	673	HP:0000982	Palmoplantar keratoderma
ORPHANET:1340	BRAF	673	HP:0002120	Cerebral cortical atrophy
ORPHANET:1340	BRAF	673	HP:0002353	EEG abnormality
ORPHANET:1340	BRAF	673	HP:0000293	Full cheeks
ORPHANET:1340	BRAF	673	HP:0000486	Strabismus
ORPHANET:1340	BRAF	673	HP:0000767	Pectus excavatum
ORPHANET:1340	BRAF	673	HP:0002007	Frontal bossing
ORPHANET:1340	BRAF	673	HP:0000957	Cafe-au-lait spot
ORPHANET:1340	BRAF	673	HP:0001622	Premature birth
ORPHANET:1340	BRAF	673	HP:0008064	Ichthyosis
ORPHANET:1340	BRAF	673	HP:0000341	Narrow forehead
ORPHANET:1340	BRAF	673	HP:0000508	Ptosis
ORPHANET:1340	BRAF	673	HP:0004322	Short stature
ORPHANET:1340	BRAF	673	HP:0003196	Short nose
ORPHANET:1340	BRAF	673	HP:0002213	Fine hair
ORPHANET:1340	BRAF	673	HP:0002857	Genu valgum
ORPHANET:1340	BRAF	673	HP:0000494	Downslanted palpebral fissures
ORPHANET:1340	BRAF	673	HP:0002167	Neurological speech impairment
ORPHANET:1340	BRAF	673	HP:0000276	Long face
ORPHANET:1340	BRAF	673	HP:0000286	Epicanthus
ORPHANET:1340	BRAF	673	HP:0002650	Scoliosis
ORPHANET:1340	BRAF	673	HP:0000545	Myopia
ORPHANET:1340	BRAF	673	HP:0000463	Anteverted nares
ORPHANET:1340	BRAF	673	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:1340	BRAF	673	HP:0000400	Macrotia
ORPHANET:1340	BRAF	673	HP:0001231	Abnormality of the fingernails
ORPHANET:1340	BRAF	673	HP:0000973	Cutis laxa
ORPHANET:1340	BRAF	673	HP:0000316	Hypertelorism
ORPHANET:1340	BRAF	673	HP:0002162	Low posterior hairline
ORPHANET:1340	BRAF	673	HP:0002967	Cubitus valgus
ORPHANET:1340	BRAF	673	HP:0000639	Nystagmus
ORPHANET:1340	BRAF	673	HP:0000343	Long philtrum
ORPHANET:1340	BRAF	673	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:1340	BRAF	673	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:1340	BRAF	673	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1340	BRAF	673	HP:0007440	Generalized hyperpigmentation
ORPHANET:1340	BRAF	673	HP:0000648	Optic atrophy
ORPHANET:1340	BRAF	673	HP:0000391	Thickened helices
ORPHANET:1340	BRAF	673	HP:0001004	Lymphedema
ORPHANET:1340	BRAF	673	HP:0000238	Hydrocephalus
ORPHANET:1340	BRAF	673	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:1340	BRAF	673	HP:0000958	Dry skin
ORPHANET:1340	BRAF	673	HP:0001654	Abnormality of the heart valves
ORPHANET:1340	BRAF	673	HP:0002217	Slow-growing hair
ORPHANET:1340	BRAF	673	HP:0000348	High forehead
ORPHANET:1340	BRAF	673	HP:0002012	Abnormality of the abdominal organs
ORPHANET:1340	BRAF	673	HP:0002997	Abnormality of the ulna
ORPHANET:1340	BRAF	673	HP:0100543	Cognitive impairment
ORPHANET:1340	BRAF	673	HP:0000028	Cryptorchidism
ORPHANET:1340	BRAF	673	HP:0001252	Muscular hypotonia
ORPHANET:1340	BRAF	673	HP:0000280	Coarse facial features
ORPHANET:1340	BRAF	673	HP:0001631	Atria septal defect
ORPHANET:1340	BRAF	673	HP:0000465	Webbed neck
ORPHANET:1340	MAP2K1	5604	HP:0000175	Cleft palate
ORPHANET:1340	MAP2K1	5604	HP:0000470	Short neck
ORPHANET:1340	MAP2K1	5604	HP:0000998	Hypertrichosis
ORPHANET:1340	MAP2K1	5604	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:1340	MAP2K1	5604	HP:0005280	Depressed nasal bridge
ORPHANET:1340	MAP2K1	5604	HP:0000499	Abnormality of the eyelashes
ORPHANET:1340	MAP2K1	5604	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:1340	MAP2K1	5604	HP:0000256	Macrocephaly
ORPHANET:1340	MAP2K1	5604	HP:0000974	Hyperextensible skin
ORPHANET:1340	MAP2K1	5604	HP:0000982	Palmoplantar keratoderma
ORPHANET:1340	MAP2K1	5604	HP:0002120	Cerebral cortical atrophy
ORPHANET:1340	MAP2K1	5604	HP:0002353	EEG abnormality
ORPHANET:1340	MAP2K1	5604	HP:0000293	Full cheeks
ORPHANET:1340	MAP2K1	5604	HP:0000486	Strabismus
ORPHANET:1340	MAP2K1	5604	HP:0000767	Pectus excavatum
ORPHANET:1340	MAP2K1	5604	HP:0002007	Frontal bossing
ORPHANET:1340	MAP2K1	5604	HP:0000957	Cafe-au-lait spot
ORPHANET:1340	MAP2K1	5604	HP:0001622	Premature birth
ORPHANET:1340	MAP2K1	5604	HP:0008064	Ichthyosis
ORPHANET:1340	MAP2K1	5604	HP:0000341	Narrow forehead
ORPHANET:1340	MAP2K1	5604	HP:0000508	Ptosis
ORPHANET:1340	MAP2K1	5604	HP:0004322	Short stature
ORPHANET:1340	MAP2K1	5604	HP:0003196	Short nose
ORPHANET:1340	MAP2K1	5604	HP:0002213	Fine hair
ORPHANET:1340	MAP2K1	5604	HP:0002857	Genu valgum
ORPHANET:1340	MAP2K1	5604	HP:0000494	Downslanted palpebral fissures
ORPHANET:1340	MAP2K1	5604	HP:0002167	Neurological speech impairment
ORPHANET:1340	MAP2K1	5604	HP:0000276	Long face
ORPHANET:1340	MAP2K1	5604	HP:0000286	Epicanthus
ORPHANET:1340	MAP2K1	5604	HP:0002650	Scoliosis
ORPHANET:1340	MAP2K1	5604	HP:0000545	Myopia
ORPHANET:1340	MAP2K1	5604	HP:0000463	Anteverted nares
ORPHANET:1340	MAP2K1	5604	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:1340	MAP2K1	5604	HP:0000400	Macrotia
ORPHANET:1340	MAP2K1	5604	HP:0001231	Abnormality of the fingernails
ORPHANET:1340	MAP2K1	5604	HP:0000973	Cutis laxa
ORPHANET:1340	MAP2K1	5604	HP:0000316	Hypertelorism
ORPHANET:1340	MAP2K1	5604	HP:0002162	Low posterior hairline
ORPHANET:1340	MAP2K1	5604	HP:0002967	Cubitus valgus
ORPHANET:1340	MAP2K1	5604	HP:0000639	Nystagmus
ORPHANET:1340	MAP2K1	5604	HP:0000343	Long philtrum
ORPHANET:1340	MAP2K1	5604	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:1340	MAP2K1	5604	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:1340	MAP2K1	5604	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1340	MAP2K1	5604	HP:0007440	Generalized hyperpigmentation
ORPHANET:1340	MAP2K1	5604	HP:0000648	Optic atrophy
ORPHANET:1340	MAP2K1	5604	HP:0000391	Thickened helices
ORPHANET:1340	MAP2K1	5604	HP:0001004	Lymphedema
ORPHANET:1340	MAP2K1	5604	HP:0000238	Hydrocephalus
ORPHANET:1340	MAP2K1	5604	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:1340	MAP2K1	5604	HP:0000958	Dry skin
ORPHANET:1340	MAP2K1	5604	HP:0001654	Abnormality of the heart valves
ORPHANET:1340	MAP2K1	5604	HP:0002217	Slow-growing hair
ORPHANET:1340	MAP2K1	5604	HP:0000348	High forehead
ORPHANET:1340	MAP2K1	5604	HP:0002012	Abnormality of the abdominal organs
ORPHANET:1340	MAP2K1	5604	HP:0002997	Abnormality of the ulna
ORPHANET:1340	MAP2K1	5604	HP:0100543	Cognitive impairment
ORPHANET:1340	MAP2K1	5604	HP:0000028	Cryptorchidism
ORPHANET:1340	MAP2K1	5604	HP:0001252	Muscular hypotonia
ORPHANET:1340	MAP2K1	5604	HP:0000280	Coarse facial features
ORPHANET:1340	MAP2K1	5604	HP:0001631	Atria septal defect
ORPHANET:1340	MAP2K1	5604	HP:0000465	Webbed neck
ORPHANET:1340	KRAS	3845	HP:0000175	Cleft palate
ORPHANET:1340	KRAS	3845	HP:0000470	Short neck
ORPHANET:1340	KRAS	3845	HP:0000998	Hypertrichosis
ORPHANET:1340	KRAS	3845	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:1340	KRAS	3845	HP:0005280	Depressed nasal bridge
ORPHANET:1340	KRAS	3845	HP:0000499	Abnormality of the eyelashes
ORPHANET:1340	KRAS	3845	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:1340	KRAS	3845	HP:0000256	Macrocephaly
ORPHANET:1340	KRAS	3845	HP:0000974	Hyperextensible skin
ORPHANET:1340	KRAS	3845	HP:0000982	Palmoplantar keratoderma
ORPHANET:1340	KRAS	3845	HP:0002120	Cerebral cortical atrophy
ORPHANET:1340	KRAS	3845	HP:0002353	EEG abnormality
ORPHANET:1340	KRAS	3845	HP:0000293	Full cheeks
ORPHANET:1340	KRAS	3845	HP:0000486	Strabismus
ORPHANET:1340	KRAS	3845	HP:0000767	Pectus excavatum
ORPHANET:1340	KRAS	3845	HP:0002007	Frontal bossing
ORPHANET:1340	KRAS	3845	HP:0000957	Cafe-au-lait spot
ORPHANET:1340	KRAS	3845	HP:0001622	Premature birth
ORPHANET:1340	KRAS	3845	HP:0008064	Ichthyosis
ORPHANET:1340	KRAS	3845	HP:0000341	Narrow forehead
ORPHANET:1340	KRAS	3845	HP:0000508	Ptosis
ORPHANET:1340	KRAS	3845	HP:0004322	Short stature
ORPHANET:1340	KRAS	3845	HP:0003196	Short nose
ORPHANET:1340	KRAS	3845	HP:0002213	Fine hair
ORPHANET:1340	KRAS	3845	HP:0002857	Genu valgum
ORPHANET:1340	KRAS	3845	HP:0000494	Downslanted palpebral fissures
ORPHANET:1340	KRAS	3845	HP:0002167	Neurological speech impairment
ORPHANET:1340	KRAS	3845	HP:0000276	Long face
ORPHANET:1340	KRAS	3845	HP:0000286	Epicanthus
ORPHANET:1340	KRAS	3845	HP:0002650	Scoliosis
ORPHANET:1340	KRAS	3845	HP:0000545	Myopia
ORPHANET:1340	KRAS	3845	HP:0000463	Anteverted nares
ORPHANET:1340	KRAS	3845	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:1340	KRAS	3845	HP:0000400	Macrotia
ORPHANET:1340	KRAS	3845	HP:0001231	Abnormality of the fingernails
ORPHANET:1340	KRAS	3845	HP:0000973	Cutis laxa
ORPHANET:1340	KRAS	3845	HP:0000316	Hypertelorism
ORPHANET:1340	KRAS	3845	HP:0002162	Low posterior hairline
ORPHANET:1340	KRAS	3845	HP:0002967	Cubitus valgus
ORPHANET:1340	KRAS	3845	HP:0000639	Nystagmus
ORPHANET:1340	KRAS	3845	HP:0000343	Long philtrum
ORPHANET:1340	KRAS	3845	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:1340	KRAS	3845	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:1340	KRAS	3845	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1340	KRAS	3845	HP:0007440	Generalized hyperpigmentation
ORPHANET:1340	KRAS	3845	HP:0000648	Optic atrophy
ORPHANET:1340	KRAS	3845	HP:0000391	Thickened helices
ORPHANET:1340	KRAS	3845	HP:0001004	Lymphedema
ORPHANET:1340	KRAS	3845	HP:0000238	Hydrocephalus
ORPHANET:1340	KRAS	3845	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:1340	KRAS	3845	HP:0000958	Dry skin
ORPHANET:1340	KRAS	3845	HP:0001654	Abnormality of the heart valves
ORPHANET:1340	KRAS	3845	HP:0002217	Slow-growing hair
ORPHANET:1340	KRAS	3845	HP:0000348	High forehead
ORPHANET:1340	KRAS	3845	HP:0002012	Abnormality of the abdominal organs
ORPHANET:1340	KRAS	3845	HP:0002997	Abnormality of the ulna
ORPHANET:1340	KRAS	3845	HP:0100543	Cognitive impairment
ORPHANET:1340	KRAS	3845	HP:0000028	Cryptorchidism
ORPHANET:1340	KRAS	3845	HP:0001252	Muscular hypotonia
ORPHANET:1340	KRAS	3845	HP:0000280	Coarse facial features
ORPHANET:1340	KRAS	3845	HP:0001631	Atria septal defect
ORPHANET:1340	KRAS	3845	HP:0000465	Webbed neck
ORPHANET:1340	MAP2K2	5605	HP:0000175	Cleft palate
ORPHANET:1340	MAP2K2	5605	HP:0000470	Short neck
ORPHANET:1340	MAP2K2	5605	HP:0000998	Hypertrichosis
ORPHANET:1340	MAP2K2	5605	HP:0001639	Hypertrophic cardiomyopathy
ORPHANET:1340	MAP2K2	5605	HP:0005280	Depressed nasal bridge
ORPHANET:1340	MAP2K2	5605	HP:0000499	Abnormality of the eyelashes
ORPHANET:1340	MAP2K2	5605	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHANET:1340	MAP2K2	5605	HP:0000256	Macrocephaly
ORPHANET:1340	MAP2K2	5605	HP:0000974	Hyperextensible skin
ORPHANET:1340	MAP2K2	5605	HP:0000982	Palmoplantar keratoderma
ORPHANET:1340	MAP2K2	5605	HP:0002120	Cerebral cortical atrophy
ORPHANET:1340	MAP2K2	5605	HP:0002353	EEG abnormality
ORPHANET:1340	MAP2K2	5605	HP:0000293	Full cheeks
ORPHANET:1340	MAP2K2	5605	HP:0000486	Strabismus
ORPHANET:1340	MAP2K2	5605	HP:0000767	Pectus excavatum
ORPHANET:1340	MAP2K2	5605	HP:0002007	Frontal bossing
ORPHANET:1340	MAP2K2	5605	HP:0000957	Cafe-au-lait spot
ORPHANET:1340	MAP2K2	5605	HP:0001622	Premature birth
ORPHANET:1340	MAP2K2	5605	HP:0008064	Ichthyosis
ORPHANET:1340	MAP2K2	5605	HP:0000341	Narrow forehead
ORPHANET:1340	MAP2K2	5605	HP:0000508	Ptosis
ORPHANET:1340	MAP2K2	5605	HP:0004322	Short stature
ORPHANET:1340	MAP2K2	5605	HP:0003196	Short nose
ORPHANET:1340	MAP2K2	5605	HP:0002213	Fine hair
ORPHANET:1340	MAP2K2	5605	HP:0002857	Genu valgum
ORPHANET:1340	MAP2K2	5605	HP:0000494	Downslanted palpebral fissures
ORPHANET:1340	MAP2K2	5605	HP:0002167	Neurological speech impairment
ORPHANET:1340	MAP2K2	5605	HP:0000276	Long face
ORPHANET:1340	MAP2K2	5605	HP:0000286	Epicanthus
ORPHANET:1340	MAP2K2	5605	HP:0002650	Scoliosis
ORPHANET:1340	MAP2K2	5605	HP:0000545	Myopia
ORPHANET:1340	MAP2K2	5605	HP:0000463	Anteverted nares
ORPHANET:1340	MAP2K2	5605	HP:0010935	Abnormality of the upper urinary tract
ORPHANET:1340	MAP2K2	5605	HP:0000400	Macrotia
ORPHANET:1340	MAP2K2	5605	HP:0001231	Abnormality of the fingernails
ORPHANET:1340	MAP2K2	5605	HP:0000973	Cutis laxa
ORPHANET:1340	MAP2K2	5605	HP:0000316	Hypertelorism
ORPHANET:1340	MAP2K2	5605	HP:0002162	Low posterior hairline
ORPHANET:1340	MAP2K2	5605	HP:0002967	Cubitus valgus
ORPHANET:1340	MAP2K2	5605	HP:0000639	Nystagmus
ORPHANET:1340	MAP2K2	5605	HP:0000343	Long philtrum
ORPHANET:1340	MAP2K2	5605	HP:0004414	Abnormality of the pulmonary artery
ORPHANET:1340	MAP2K2	5605	HP:0009891	Underdeveloped supraorbital ridges
ORPHANET:1340	MAP2K2	5605	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:1340	MAP2K2	5605	HP:0007440	Generalized hyperpigmentation
ORPHANET:1340	MAP2K2	5605	HP:0000648	Optic atrophy
ORPHANET:1340	MAP2K2	5605	HP:0000391	Thickened helices
ORPHANET:1340	MAP2K2	5605	HP:0001004	Lymphedema
ORPHANET:1340	MAP2K2	5605	HP:0000238	Hydrocephalus
ORPHANET:1340	MAP2K2	5605	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:1340	MAP2K2	5605	HP:0000958	Dry skin
ORPHANET:1340	MAP2K2	5605	HP:0001654	Abnormality of the heart valves
ORPHANET:1340	MAP2K2	5605	HP:0002217	Slow-growing hair
ORPHANET:1340	MAP2K2	5605	HP:0000348	High forehead
ORPHANET:1340	MAP2K2	5605	HP:0002012	Abnormality of the abdominal organs
ORPHANET:1340	MAP2K2	5605	HP:0002997	Abnormality of the ulna
ORPHANET:1340	MAP2K2	5605	HP:0100543	Cognitive impairment
ORPHANET:1340	MAP2K2	5605	HP:0000028	Cryptorchidism
ORPHANET:1340	MAP2K2	5605	HP:0001252	Muscular hypotonia
ORPHANET:1340	MAP2K2	5605	HP:0000280	Coarse facial features
ORPHANET:1340	MAP2K2	5605	HP:0001631	Atria septal defect
ORPHANET:1340	MAP2K2	5605	HP:0000465	Webbed neck
OMIM:612847	PAPSS2	9060	HP:0002751	Kyphoscoliosis
OMIM:612847	PAPSS2	9060	HP:0004322	Short stature
OMIM:612847	PAPSS2	9060	HP:0000869	Secondary amenorrhea
OMIM:612847	PAPSS2	9060	HP:0009816	Lower limb undergrowth
OMIM:612847	PAPSS2	9060	HP:0001156	Brachydactyly syndrome
OMIM:612847	PAPSS2	9060	HP:0001061	Acne
OMIM:612847	PAPSS2	9060	HP:0004626	Lumbar scoliosis
OMIM:612847	PAPSS2	9060	HP:0002979	Bowing of the legs
OMIM:612847	PAPSS2	9060	HP:0000926	Platyspondyly
OMIM:612847	PAPSS2	9060	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:612847	PAPSS2	9060	HP:0001007	Hirsutism
OMIM:612847	PAPSS2	9060	HP:0000007	Autosomal recessive inheritance
OMIM:612847	PAPSS2	9060	HP:0003301	Irregular vertebral endplates
OMIM:306900	F9	2158	HP:0002239	Gastrointestinal hemorrhage
OMIM:306900	F9	2158	HP:0001892	Abnormal bleeding
OMIM:306900	F9	2158	HP:0001419	X-linked recessive inheritance
OMIM:604765	TPM1	7168	HP:0006673	Reduced systolic function
OMIM:604765	TPM1	7168	HP:0000006	Autosomal dominant inheritance
OMIM:604765	TPM1	7168	HP:0001644	Dilated cardiomyopathy
OMIM:604765	CRYAB	1410	HP:0006673	Reduced systolic function
OMIM:604765	CRYAB	1410	HP:0000006	Autosomal dominant inheritance
OMIM:604765	CRYAB	1410	HP:0001644	Dilated cardiomyopathy
OMIM:604765	ACTC1	70	HP:0006673	Reduced systolic function
OMIM:604765	ACTC1	70	HP:0000006	Autosomal dominant inheritance
OMIM:604765	ACTC1	70	HP:0001644	Dilated cardiomyopathy
OMIM:604765	RAF1	5894	HP:0006673	Reduced systolic function
OMIM:604765	RAF1	5894	HP:0000006	Autosomal dominant inheritance
OMIM:604765	RAF1	5894	HP:0001644	Dilated cardiomyopathy
OMIM:604765	GATAD1	57798	HP:0006673	Reduced systolic function
OMIM:604765	GATAD1	57798	HP:0000006	Autosomal dominant inheritance
OMIM:604765	GATAD1	57798	HP:0001644	Dilated cardiomyopathy
OMIM:604765	LAMA4	3910	HP:0006673	Reduced systolic function
OMIM:604765	LAMA4	3910	HP:0000006	Autosomal dominant inheritance
OMIM:604765	LAMA4	3910	HP:0001644	Dilated cardiomyopathy
OMIM:604765	TMPO	7112	HP:0006673	Reduced systolic function
OMIM:604765	TMPO	7112	HP:0000006	Autosomal dominant inheritance
OMIM:604765	TMPO	7112	HP:0001644	Dilated cardiomyopathy
OMIM:604765	DES	1674	HP:0006673	Reduced systolic function
OMIM:604765	DES	1674	HP:0000006	Autosomal dominant inheritance
OMIM:604765	DES	1674	HP:0001644	Dilated cardiomyopathy
OMIM:604765	ABCC9	10060	HP:0006673	Reduced systolic function
OMIM:604765	ABCC9	10060	HP:0000006	Autosomal dominant inheritance
OMIM:604765	ABCC9	10060	HP:0001644	Dilated cardiomyopathy
OMIM:604765	MYH6	4624	HP:0006673	Reduced systolic function
OMIM:604765	MYH6	4624	HP:0000006	Autosomal dominant inheritance
OMIM:604765	MYH6	4624	HP:0001644	Dilated cardiomyopathy
OMIM:604765	MYH7	4625	HP:0006673	Reduced systolic function
OMIM:604765	MYH7	4625	HP:0000006	Autosomal dominant inheritance
OMIM:604765	MYH7	4625	HP:0001644	Dilated cardiomyopathy
OMIM:604765	LDB3	11155	HP:0006673	Reduced systolic function
OMIM:604765	LDB3	11155	HP:0000006	Autosomal dominant inheritance
OMIM:604765	LDB3	11155	HP:0001644	Dilated cardiomyopathy
OMIM:604765	ACTN2	88	HP:0006673	Reduced systolic function
OMIM:604765	ACTN2	88	HP:0000006	Autosomal dominant inheritance
OMIM:604765	ACTN2	88	HP:0001644	Dilated cardiomyopathy
OMIM:604765	TXNRD2	10587	HP:0006673	Reduced systolic function
OMIM:604765	TXNRD2	10587	HP:0000006	Autosomal dominant inheritance
OMIM:604765	TXNRD2	10587	HP:0001644	Dilated cardiomyopathy
OMIM:604765	DMD	1756	HP:0006673	Reduced systolic function
OMIM:604765	DMD	1756	HP:0000006	Autosomal dominant inheritance
OMIM:604765	DMD	1756	HP:0001644	Dilated cardiomyopathy
OMIM:604765	TNNC1	7134	HP:0006673	Reduced systolic function
OMIM:604765	TNNC1	7134	HP:0000006	Autosomal dominant inheritance
OMIM:604765	TNNC1	7134	HP:0001644	Dilated cardiomyopathy
OMIM:604765	PSEN1	5663	HP:0006673	Reduced systolic function
OMIM:604765	PSEN1	5663	HP:0000006	Autosomal dominant inheritance
OMIM:604765	PSEN1	5663	HP:0001644	Dilated cardiomyopathy
OMIM:604765	PSEN2	5664	HP:0006673	Reduced systolic function
OMIM:604765	PSEN2	5664	HP:0000006	Autosomal dominant inheritance
OMIM:604765	PSEN2	5664	HP:0001644	Dilated cardiomyopathy
OMIM:604765	TNNI3	7137	HP:0006673	Reduced systolic function
OMIM:604765	TNNI3	7137	HP:0000006	Autosomal dominant inheritance
OMIM:604765	TNNI3	7137	HP:0001644	Dilated cardiomyopathy
OMIM:604765	FHL2	2274	HP:0006673	Reduced systolic function
OMIM:604765	FHL2	2274	HP:0000006	Autosomal dominant inheritance
OMIM:604765	FHL2	2274	HP:0001644	Dilated cardiomyopathy
OMIM:604765	TNNT2	7139	HP:0006673	Reduced systolic function
OMIM:604765	TNNT2	7139	HP:0000006	Autosomal dominant inheritance
OMIM:604765	TNNT2	7139	HP:0001644	Dilated cardiomyopathy
OMIM:604765	DSG2	1829	HP:0006673	Reduced systolic function
OMIM:604765	DSG2	1829	HP:0000006	Autosomal dominant inheritance
OMIM:604765	DSG2	1829	HP:0001644	Dilated cardiomyopathy
OMIM:604765	PLN	5350	HP:0006673	Reduced systolic function
OMIM:604765	PLN	5350	HP:0000006	Autosomal dominant inheritance
OMIM:604765	PLN	5350	HP:0001644	Dilated cardiomyopathy
OMIM:604765	PRDM16	63976	HP:0006673	Reduced systolic function
OMIM:604765	PRDM16	63976	HP:0000006	Autosomal dominant inheritance
OMIM:604765	PRDM16	63976	HP:0001644	Dilated cardiomyopathy
OMIM:604765	TTN	7273	HP:0006673	Reduced systolic function
OMIM:604765	TTN	7273	HP:0000006	Autosomal dominant inheritance
OMIM:604765	TTN	7273	HP:0001644	Dilated cardiomyopathy
OMIM:604765	NEXN	91624	HP:0006673	Reduced systolic function
OMIM:604765	NEXN	91624	HP:0000006	Autosomal dominant inheritance
OMIM:604765	NEXN	91624	HP:0001644	Dilated cardiomyopathy
OMIM:604765	FKTN	2218	HP:0006673	Reduced systolic function
OMIM:604765	FKTN	2218	HP:0000006	Autosomal dominant inheritance
OMIM:604765	FKTN	2218	HP:0001644	Dilated cardiomyopathy
OMIM:604765	SGCD	6444	HP:0006673	Reduced systolic function
OMIM:604765	SGCD	6444	HP:0000006	Autosomal dominant inheritance
OMIM:604765	SGCD	6444	HP:0001644	Dilated cardiomyopathy
OMIM:604765	TCAP	8557	HP:0006673	Reduced systolic function
OMIM:604765	TCAP	8557	HP:0000006	Autosomal dominant inheritance
OMIM:604765	TCAP	8557	HP:0001644	Dilated cardiomyopathy
OMIM:604765	CSRP3	8048	HP:0006673	Reduced systolic function
OMIM:604765	CSRP3	8048	HP:0000006	Autosomal dominant inheritance
OMIM:604765	CSRP3	8048	HP:0001644	Dilated cardiomyopathy
OMIM:604765	RBM20	282996	HP:0006673	Reduced systolic function
OMIM:604765	RBM20	282996	HP:0000006	Autosomal dominant inheritance
OMIM:604765	RBM20	282996	HP:0001644	Dilated cardiomyopathy
OMIM:604765	SDHA	6389	HP:0006673	Reduced systolic function
OMIM:604765	SDHA	6389	HP:0000006	Autosomal dominant inheritance
OMIM:604765	SDHA	6389	HP:0001644	Dilated cardiomyopathy
OMIM:604765	TAZ	6901	HP:0006673	Reduced systolic function
OMIM:604765	TAZ	6901	HP:0000006	Autosomal dominant inheritance
OMIM:604765	TAZ	6901	HP:0001644	Dilated cardiomyopathy
OMIM:604765	VCL	7414	HP:0006673	Reduced systolic function
OMIM:604765	VCL	7414	HP:0000006	Autosomal dominant inheritance
OMIM:604765	VCL	7414	HP:0001644	Dilated cardiomyopathy
OMIM:604765	MYPN	84665	HP:0006673	Reduced systolic function
OMIM:604765	MYPN	84665	HP:0000006	Autosomal dominant inheritance
OMIM:604765	MYPN	84665	HP:0001644	Dilated cardiomyopathy
OMIM:604765	SCN5A	6331	HP:0006673	Reduced systolic function
OMIM:604765	SCN5A	6331	HP:0000006	Autosomal dominant inheritance
OMIM:604765	SCN5A	6331	HP:0001644	Dilated cardiomyopathy
OMIM:604765	BAG3	9531	HP:0006673	Reduced systolic function
OMIM:604765	BAG3	9531	HP:0000006	Autosomal dominant inheritance
OMIM:604765	BAG3	9531	HP:0001644	Dilated cardiomyopathy
OMIM:604765	DOLK	22845	HP:0006673	Reduced systolic function
OMIM:604765	DOLK	22845	HP:0000006	Autosomal dominant inheritance
OMIM:604765	DOLK	22845	HP:0001644	Dilated cardiomyopathy
OMIM:604765	MYBPC3	4607	HP:0006673	Reduced systolic function
OMIM:604765	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:604765	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:606346	DIAPH1	1729	HP:0000006	Autosomal dominant inheritance
OMIM:606346	DIAPH1	1729	HP:0000407	Sensorineural hearing impairment
OMIM:606346	CEACAM16	388551	HP:0000006	Autosomal dominant inheritance
OMIM:606346	CEACAM16	388551	HP:0000407	Sensorineural hearing impairment
OMIM:606346	SLC17A8	246213	HP:0000006	Autosomal dominant inheritance
OMIM:606346	SLC17A8	246213	HP:0000407	Sensorineural hearing impairment
OMIM:606346	TJP2	9414	HP:0000006	Autosomal dominant inheritance
OMIM:606346	TJP2	9414	HP:0000407	Sensorineural hearing impairment
OMIM:606346	ACTG1	71	HP:0000006	Autosomal dominant inheritance
OMIM:606346	ACTG1	71	HP:0000407	Sensorineural hearing impairment
OMIM:606346	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:606346	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:606346	MIR96	407053	HP:0000006	Autosomal dominant inheritance
OMIM:606346	MIR96	407053	HP:0000407	Sensorineural hearing impairment
OMIM:606346	GJB2	2706	HP:0000006	Autosomal dominant inheritance
OMIM:606346	GJB2	2706	HP:0000407	Sensorineural hearing impairment
OMIM:606346	POU4F3	5459	HP:0000006	Autosomal dominant inheritance
OMIM:606346	POU4F3	5459	HP:0000407	Sensorineural hearing impairment
OMIM:606346	GJB3	2707	HP:0000006	Autosomal dominant inheritance
OMIM:606346	GJB3	2707	HP:0000407	Sensorineural hearing impairment
OMIM:606346	MYH9	4627	HP:0000006	Autosomal dominant inheritance
OMIM:606346	MYH9	4627	HP:0000407	Sensorineural hearing impairment
OMIM:606346	CRYM	1428	HP:0000006	Autosomal dominant inheritance
OMIM:606346	CRYM	1428	HP:0000407	Sensorineural hearing impairment
OMIM:606346	COL11A2	1302	HP:0000006	Autosomal dominant inheritance
OMIM:606346	COL11A2	1302	HP:0000407	Sensorineural hearing impairment
OMIM:606346	EYA4	2070	HP:0000006	Autosomal dominant inheritance
OMIM:606346	EYA4	2070	HP:0000407	Sensorineural hearing impairment
OMIM:606346	DFNA5	1687	HP:0000006	Autosomal dominant inheritance
OMIM:606346	DFNA5	1687	HP:0000407	Sensorineural hearing impairment
OMIM:606346	DIAPH3	81624	HP:0000006	Autosomal dominant inheritance
OMIM:606346	DIAPH3	81624	HP:0000407	Sensorineural hearing impairment
OMIM:606346	TMC1	117531	HP:0000006	Autosomal dominant inheritance
OMIM:606346	TMC1	117531	HP:0000407	Sensorineural hearing impairment
OMIM:606346	COCH	1690	HP:0000006	Autosomal dominant inheritance
OMIM:606346	COCH	1690	HP:0000407	Sensorineural hearing impairment
OMIM:606346	OSBPL2	9885	HP:0000006	Autosomal dominant inheritance
OMIM:606346	OSBPL2	9885	HP:0000407	Sensorineural hearing impairment
OMIM:606346	SIX1	6495	HP:0000006	Autosomal dominant inheritance
OMIM:606346	SIX1	6495	HP:0000407	Sensorineural hearing impairment
OMIM:606346	TECTA	7007	HP:0000006	Autosomal dominant inheritance
OMIM:606346	TECTA	7007	HP:0000407	Sensorineural hearing impairment
OMIM:606346	MYO1A	4640	HP:0000006	Autosomal dominant inheritance
OMIM:606346	MYO1A	4640	HP:0000407	Sensorineural hearing impairment
OMIM:606346	MYO1C	4641	HP:0000006	Autosomal dominant inheritance
OMIM:606346	MYO1C	4641	HP:0000407	Sensorineural hearing impairment
OMIM:606346	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:606346	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:606346	MYO7A	4647	HP:0000006	Autosomal dominant inheritance
OMIM:606346	MYO7A	4647	HP:0000407	Sensorineural hearing impairment
OMIM:606346	GRHL2	79977	HP:0000006	Autosomal dominant inheritance
OMIM:606346	GRHL2	79977	HP:0000407	Sensorineural hearing impairment
OMIM:606346	DIABLO	56616	HP:0000006	Autosomal dominant inheritance
OMIM:606346	DIABLO	56616	HP:0000407	Sensorineural hearing impairment
OMIM:606346	MYH14	79784	HP:0000006	Autosomal dominant inheritance
OMIM:606346	MYH14	79784	HP:0000407	Sensorineural hearing impairment
OMIM:606346	P2RX2	22953	HP:0000006	Autosomal dominant inheritance
OMIM:606346	P2RX2	22953	HP:0000407	Sensorineural hearing impairment
OMIM:606346	WFS1	7466	HP:0000006	Autosomal dominant inheritance
OMIM:606346	WFS1	7466	HP:0000407	Sensorineural hearing impairment
OMIM:606346	TNC	3371	HP:0000006	Autosomal dominant inheritance
OMIM:606346	TNC	3371	HP:0000407	Sensorineural hearing impairment
OMIM:606346	KCNQ4	9132	HP:0000006	Autosomal dominant inheritance
OMIM:606346	KCNQ4	9132	HP:0000407	Sensorineural hearing impairment
OMIM:606346	HOMER2	9455	HP:0000006	Autosomal dominant inheritance
OMIM:606346	HOMER2	9455	HP:0000407	Sensorineural hearing impairment
OMIM:606346	GJB6	10804	HP:0000006	Autosomal dominant inheritance
OMIM:606346	GJB6	10804	HP:0000407	Sensorineural hearing impairment
OMIM:606346	TBC1D24	57465	HP:0000006	Autosomal dominant inheritance
OMIM:606346	TBC1D24	57465	HP:0000407	Sensorineural hearing impairment
OMIM:221900	FZD4	8322	HP:0000612	Iris coloboma
OMIM:221900	FZD4	8322	HP:0000007	Autosomal recessive inheritance
OMIM:221900	FZD4	8322	HP:0000568	Microphthalmia
OMIM:221900	FZD4	8322	HP:0000557	Buphthalmos
OMIM:221900	FZD4	8322	HP:0012043	Pendular nystagmus
OMIM:221900	FZD4	8322	HP:0007957	Corneal opacity
OMIM:221900	FZD4	8322	HP:0009917	Persistent pupillary membrane
OMIM:221900	FZD4	8322	HP:0000482	Microcornea
OMIM:221900	FZD4	8322	HP:0000518	Cataract
OMIM:221900	FZD4	8322	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:221900	FZD4	8322	HP:0000565	Esotropia
OMIM:221900	NDP	4693	HP:0000612	Iris coloboma
OMIM:221900	NDP	4693	HP:0000007	Autosomal recessive inheritance
OMIM:221900	NDP	4693	HP:0000568	Microphthalmia
OMIM:221900	NDP	4693	HP:0000557	Buphthalmos
OMIM:221900	NDP	4693	HP:0012043	Pendular nystagmus
OMIM:221900	NDP	4693	HP:0007957	Corneal opacity
OMIM:221900	NDP	4693	HP:0009917	Persistent pupillary membrane
OMIM:221900	NDP	4693	HP:0000482	Microcornea
OMIM:221900	NDP	4693	HP:0000518	Cataract
OMIM:221900	NDP	4693	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:221900	NDP	4693	HP:0000565	Esotropia
OMIM:221900	ATOH7	220202	HP:0000612	Iris coloboma
OMIM:221900	ATOH7	220202	HP:0000007	Autosomal recessive inheritance
OMIM:221900	ATOH7	220202	HP:0000568	Microphthalmia
OMIM:221900	ATOH7	220202	HP:0000557	Buphthalmos
OMIM:221900	ATOH7	220202	HP:0012043	Pendular nystagmus
OMIM:221900	ATOH7	220202	HP:0007957	Corneal opacity
OMIM:221900	ATOH7	220202	HP:0009917	Persistent pupillary membrane
OMIM:221900	ATOH7	220202	HP:0000482	Microcornea
OMIM:221900	ATOH7	220202	HP:0000518	Cataract
OMIM:221900	ATOH7	220202	HP:0007968	Persistent hyperplastic primary vitreous
OMIM:221900	ATOH7	220202	HP:0000565	Esotropia
OMIM:276904	PCDH15	65217	HP:0000007	Autosomal recessive inheritance
OMIM:276904	PCDH15	65217	HP:0001756	Vestibular hypofunction
OMIM:276904	PCDH15	65217	HP:0000510	Rod-cone dystrophy
OMIM:276904	PCDH15	65217	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276904	USH1C	10083	HP:0000007	Autosomal recessive inheritance
OMIM:276904	USH1C	10083	HP:0001756	Vestibular hypofunction
OMIM:276904	USH1C	10083	HP:0000510	Rod-cone dystrophy
OMIM:276904	USH1C	10083	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276904	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:276904	CIB2	10518	HP:0001756	Vestibular hypofunction
OMIM:276904	CIB2	10518	HP:0000510	Rod-cone dystrophy
OMIM:276904	CIB2	10518	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276904	MYO7A	4647	HP:0000007	Autosomal recessive inheritance
OMIM:276904	MYO7A	4647	HP:0001756	Vestibular hypofunction
OMIM:276904	MYO7A	4647	HP:0000510	Rod-cone dystrophy
OMIM:276904	MYO7A	4647	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276904	CDH23	64072	HP:0000007	Autosomal recessive inheritance
OMIM:276904	CDH23	64072	HP:0001756	Vestibular hypofunction
OMIM:276904	CDH23	64072	HP:0000510	Rod-cone dystrophy
OMIM:276904	CDH23	64072	HP:0008527	Congenital sensorineural hearing impairment
OMIM:276904	USH1G	124590	HP:0000007	Autosomal recessive inheritance
OMIM:276904	USH1G	124590	HP:0001756	Vestibular hypofunction
OMIM:276904	USH1G	124590	HP:0000510	Rod-cone dystrophy
OMIM:276904	USH1G	124590	HP:0008527	Congenital sensorineural hearing impairment
OMIM:609734	POMC	5443	HP:0001513	Obesity
OMIM:609734	POMC	5443	HP:0000007	Autosomal recessive inheritance
OMIM:609734	POMC	5443	HP:0000846	Adrenal insufficiency
OMIM:609734	POMC	5443	HP:0001396	Cholestasis
OMIM:219080	ARMC5	79798	HP:0002808	Kyphosis
OMIM:219080	ARMC5	79798	HP:0001575	Mood changes
OMIM:219080	ARMC5	79798	HP:0000822	Hypertension
OMIM:219080	ARMC5	79798	HP:0002920	Decreased circulating ACTH level
OMIM:219080	ARMC5	79798	HP:0003581	Adult onset
OMIM:219080	ARMC5	79798	HP:0000716	Depression
OMIM:219080	ARMC5	79798	HP:0000739	Anxiety
OMIM:219080	ARMC5	79798	HP:0000978	Bruising susceptibility
OMIM:219080	ARMC5	79798	HP:0003202	Skeletal muscle atrophy
OMIM:219080	ARMC5	79798	HP:0001065	Striae distensae
OMIM:219080	ARMC5	79798	HP:0002664	Neoplasm
OMIM:219080	ARMC5	79798	HP:0000709	Psychosis
OMIM:219080	ARMC5	79798	HP:0000938	Osteopenia
OMIM:219080	ARMC5	79798	HP:0000311	Round face
OMIM:219080	ARMC5	79798	HP:0000713	Agitation
OMIM:219080	ARMC5	79798	HP:0001268	Mental deterioration
OMIM:219080	ARMC5	79798	HP:0003745	Sporadic
OMIM:219080	ARMC5	79798	HP:0000006	Autosomal dominant inheritance
OMIM:219080	ARMC5	79798	HP:0003118	Increased circulating cortisol level
OMIM:219080	ARMC5	79798	HP:0008231	Macronodular adrenal hyperplasia
OMIM:219080	ARMC5	79798	HP:0000939	Osteoporosis
OMIM:219080	ARMC5	79798	HP:0000963	Thin skin
OMIM:219080	ARMC5	79798	HP:0001956	Truncal obesity
OMIM:219080	ARMC5	79798	HP:0001579	Primary hypercorticolism
OMIM:219080	GNAS	2778	HP:0002808	Kyphosis
OMIM:219080	GNAS	2778	HP:0001575	Mood changes
OMIM:219080	GNAS	2778	HP:0000822	Hypertension
OMIM:219080	GNAS	2778	HP:0002920	Decreased circulating ACTH level
OMIM:219080	GNAS	2778	HP:0003581	Adult onset
OMIM:219080	GNAS	2778	HP:0000716	Depression
OMIM:219080	GNAS	2778	HP:0000739	Anxiety
OMIM:219080	GNAS	2778	HP:0000978	Bruising susceptibility
OMIM:219080	GNAS	2778	HP:0003202	Skeletal muscle atrophy
OMIM:219080	GNAS	2778	HP:0001065	Striae distensae
OMIM:219080	GNAS	2778	HP:0002664	Neoplasm
OMIM:219080	GNAS	2778	HP:0000709	Psychosis
OMIM:219080	GNAS	2778	HP:0000938	Osteopenia
OMIM:219080	GNAS	2778	HP:0000311	Round face
OMIM:219080	GNAS	2778	HP:0000713	Agitation
OMIM:219080	GNAS	2778	HP:0001268	Mental deterioration
OMIM:219080	GNAS	2778	HP:0003745	Sporadic
OMIM:219080	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:219080	GNAS	2778	HP:0003118	Increased circulating cortisol level
OMIM:219080	GNAS	2778	HP:0008231	Macronodular adrenal hyperplasia
OMIM:219080	GNAS	2778	HP:0000939	Osteoporosis
OMIM:219080	GNAS	2778	HP:0000963	Thin skin
OMIM:219080	GNAS	2778	HP:0001956	Truncal obesity
OMIM:219080	GNAS	2778	HP:0001579	Primary hypercorticolism
OMIM:610445	SLC24A1	9187	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	SLC24A1	9187	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:610445	SLC24A1	9187	HP:0001123	Visual field defect
OMIM:610445	GRM6	2916	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	GRM6	2916	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:610445	GRM6	2916	HP:0001123	Visual field defect
OMIM:610445	PDE6B	5158	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	PDE6B	5158	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:610445	PDE6B	5158	HP:0001123	Visual field defect
OMIM:610445	CACNA1F	778	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	CACNA1F	778	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:610445	CACNA1F	778	HP:0001123	Visual field defect
OMIM:610445	LRIT3	345193	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	LRIT3	345193	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:610445	LRIT3	345193	HP:0001123	Visual field defect
OMIM:610445	CABP4	57010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	CABP4	57010	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:610445	CABP4	57010	HP:0001123	Visual field defect
OMIM:610445	CACNA2D4	93589	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	CACNA2D4	93589	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:610445	CACNA2D4	93589	HP:0001123	Visual field defect
OMIM:610445	TRPM1	4308	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	TRPM1	4308	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:610445	TRPM1	4308	HP:0001123	Visual field defect
OMIM:610445	GPR179	440435	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	GPR179	440435	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:610445	GPR179	440435	HP:0001123	Visual field defect
OMIM:610445	SAG	6295	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	SAG	6295	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:610445	SAG	6295	HP:0001123	Visual field defect
OMIM:610445	RHO	6010	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	RHO	6010	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:610445	RHO	6010	HP:0001123	Visual field defect
OMIM:610445	NYX	60506	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	NYX	60506	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:610445	NYX	60506	HP:0001123	Visual field defect
OMIM:610445	GNAT1	2779	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	GNAT1	2779	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:610445	GNAT1	2779	HP:0001123	Visual field defect
OMIM:610445	GRK1	6011	HP:0007737	Bone spicule pigmentation of the retina
OMIM:610445	GRK1	6011	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:610445	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:610445	GRK1	6011	HP:0001123	Visual field defect
OMIM:613507	GYG1	2992	HP:0011712	Right bundle branch block
OMIM:613507	GYG1	2992	HP:0000007	Autosomal recessive inheritance
OMIM:613507	GYG1	2992	HP:0001324	Muscle weakness
OMIM:613507	GYG1	2992	HP:0004308	Ventricular arrhythmia
OMIM:217800	CHST6	4166	HP:0000613	Photophobia
OMIM:217800	CHST6	4166	HP:0003621	Juvenile onset
OMIM:217800	CHST6	4166	HP:0001131	Corneal dystrophy
OMIM:217800	CHST6	4166	HP:0000007	Autosomal recessive inheritance
OMIM:217800	CHST6	4166	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:190900	OPN1SW	611	HP:0000006	Autosomal dominant inheritance
OMIM:190900	OPN1SW	611	HP:0000552	Tritanomaly
OMIM:607250	TDP1	55775	HP:0003477	Peripheral axonal neuropathy
OMIM:607250	TDP1	55775	HP:0001251	Ataxia
OMIM:607250	TDP1	55775	HP:0001761	Pes cavus
OMIM:607250	TDP1	55775	HP:0000007	Autosomal recessive inheritance
OMIM:607250	TDP1	55775	HP:0003693	Distal amyotrophy
OMIM:607250	TDP1	55775	HP:0003376	Steppage gait
OMIM:600721	IDH2	3418	HP:0001250	Seizures
OMIM:600721	IDH2	3418	HP:0000007	Autosomal recessive inheritance
OMIM:600721	IDH2	3418	HP:0000256	Macrocephaly
OMIM:600721	IDH2	3418	HP:0002104	Apnea
OMIM:600721	IDH2	3418	HP:0001249	Intellectual disability
OMIM:600721	IDH2	3418	HP:0001638	Cardiomyopathy
OMIM:600721	IDH2	3418	HP:0011220	Prominent forehead
OMIM:600721	IDH2	3418	HP:0002007	Frontal bossing
OMIM:600721	IDH2	3418	HP:0001263	Global developmental delay
OMIM:600721	IDH2	3418	HP:0001252	Muscular hypotonia
OMIM:600721	IDH2	3418	HP:0002188	Delayed CNS myelination
OMIM:600721	IDH2	3418	HP:0001324	Muscle weakness
OMIM:600721	IDH2	3418	HP:0007105	Infantile encephalopathy
OMIM:600721	IDH2	3418	HP:0000347	Micrognathia
OMIM:600721	IDH2	3418	HP:0001659	Aortic regurgitation
OMIM:600721	D2HGDH	728294	HP:0001250	Seizures
OMIM:600721	D2HGDH	728294	HP:0000007	Autosomal recessive inheritance
OMIM:600721	D2HGDH	728294	HP:0000256	Macrocephaly
OMIM:600721	D2HGDH	728294	HP:0002104	Apnea
OMIM:600721	D2HGDH	728294	HP:0001249	Intellectual disability
OMIM:600721	D2HGDH	728294	HP:0001638	Cardiomyopathy
OMIM:600721	D2HGDH	728294	HP:0011220	Prominent forehead
OMIM:600721	D2HGDH	728294	HP:0002007	Frontal bossing
OMIM:600721	D2HGDH	728294	HP:0001263	Global developmental delay
OMIM:600721	D2HGDH	728294	HP:0001252	Muscular hypotonia
OMIM:600721	D2HGDH	728294	HP:0002188	Delayed CNS myelination
OMIM:600721	D2HGDH	728294	HP:0001324	Muscle weakness
OMIM:600721	D2HGDH	728294	HP:0007105	Infantile encephalopathy
OMIM:600721	D2HGDH	728294	HP:0000347	Micrognathia
OMIM:600721	D2HGDH	728294	HP:0001659	Aortic regurgitation
OMIM:310370	CSTB	1476	HP:0002123	Generalized myoclonic seizures
OMIM:310370	CSTB	1476	HP:0001417	X-linked inheritance
OMIM:310370	SCARB2	950	HP:0002123	Generalized myoclonic seizures
OMIM:310370	SCARB2	950	HP:0001417	X-linked inheritance
OMIM:310370	PRICKLE1	144165	HP:0002123	Generalized myoclonic seizures
OMIM:310370	PRICKLE1	144165	HP:0001417	X-linked inheritance
OMIM:261800	SOX9	6662	HP:0000347	Micrognathia
OMIM:261800	SOX9	6662	HP:0000162	Glossoptosis
OMIM:261800	SOX9	6662	HP:0000175	Cleft palate
OMIM:261800	SOX9	6662	HP:0000201	Pierre-Robin sequence
OMIM:261800	SOX9	6662	HP:0000007	Autosomal recessive inheritance
OMIM:261800	SOX9	6662	HP:0002093	Respiratory insufficiency
OMIM:261800	SOX9	6662	HP:0000600	Abnormality of the pharynx
OMIM:261800	SOX9	6662	HP:0008872	Feeding difficulties in infancy
OMIM:609241	NAGA	4668	HP:0001004	Lymphedema
OMIM:609241	NAGA	4668	HP:0100704	Cortical visual impairment
OMIM:609241	NAGA	4668	HP:0004305	Involuntary movements
OMIM:609241	NAGA	4668	HP:0001252	Muscular hypotonia
OMIM:609241	NAGA	4668	HP:0000648	Optic atrophy
OMIM:609241	NAGA	4668	HP:0001250	Seizures
OMIM:609241	NAGA	4668	HP:0002376	Developmental regression
OMIM:609241	NAGA	4668	HP:0000639	Nystagmus
OMIM:609241	NAGA	4668	HP:0002240	Hepatomegaly
OMIM:609241	NAGA	4668	HP:0003401	Paresthesia
OMIM:609241	NAGA	4668	HP:0001347	Hyperreflexia
OMIM:609241	NAGA	4668	HP:0000518	Cataract
OMIM:609241	NAGA	4668	HP:0001324	Muscle weakness
OMIM:609241	NAGA	4668	HP:0000938	Osteopenia
OMIM:609241	NAGA	4668	HP:0001336	Myoclonus
OMIM:609241	NAGA	4668	HP:0001276	Hypertonia
OMIM:609241	NAGA	4668	HP:0000365	Hearing impairment
OMIM:609241	NAGA	4668	HP:0007256	Abnormal pyramidal signs
OMIM:609241	NAGA	4668	HP:0001263	Global developmental delay
OMIM:609241	NAGA	4668	HP:0100585	Telangiectasia of the skin
OMIM:609241	NAGA	4668	HP:0000486	Strabismus
OMIM:609241	NAGA	4668	HP:0001639	Hypertrophic cardiomyopathy
OMIM:609241	NAGA	4668	HP:0003593	Infantile onset
OMIM:609241	NAGA	4668	HP:0000007	Autosomal recessive inheritance
OMIM:609241	NAGA	4668	HP:0010864	Intellectual disability, severe
OMIM:609241	NAGA	4668	HP:0100543	Cognitive impairment
OMIM:609241	NAGA	4668	HP:0000717	Autism
OMIM:609241	NAGA	4668	HP:0002321	Vertigo
OMIM:609241	NAGA	4668	HP:0001257	Spasticity
OMIM:609241	NAGA	4668	HP:0004374	Hemiplegia/hemiparesis
OMIM:609241	NAGA	4668	HP:0000505	Visual impairment
OMIM:609241	NAGA	4668	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:609241	NAGA	4668	HP:0000962	Hyperkeratosis
OMIM:615824	UQCRQ	27089	HP:0001942	Metabolic acidosis
OMIM:615824	UQCRQ	27089	HP:0000286	Epicanthus
OMIM:615824	UQCRQ	27089	HP:0100259	Postaxial polydactyly
OMIM:615824	UQCRQ	27089	HP:0000028	Cryptorchidism
OMIM:615824	UQCRQ	27089	HP:0001250	Seizures
OMIM:615824	UQCRQ	27089	HP:0000718	Aggressive behavior
OMIM:615824	UQCRQ	27089	HP:0001263	Global developmental delay
OMIM:615824	UQCRQ	27089	HP:0001319	Neonatal hypotonia
OMIM:615824	UQCRQ	27089	HP:0002465	Poor speech
OMIM:615824	UQCRQ	27089	HP:0005280	Depressed nasal bridge
OMIM:615824	UQCRQ	27089	HP:0000752	Hyperactivity
OMIM:615824	UQCRQ	27089	HP:0000582	Upslanted palpebral fissure
OMIM:615824	UQCRQ	27089	HP:0000664	Synophrys
OMIM:615824	UQCRQ	27089	HP:0001511	Intrauterine growth retardation
OMIM:615824	CYC1	1537	HP:0001942	Metabolic acidosis
OMIM:615824	CYC1	1537	HP:0000286	Epicanthus
OMIM:615824	CYC1	1537	HP:0100259	Postaxial polydactyly
OMIM:615824	CYC1	1537	HP:0000028	Cryptorchidism
OMIM:615824	CYC1	1537	HP:0001250	Seizures
OMIM:615824	CYC1	1537	HP:0000718	Aggressive behavior
OMIM:615824	CYC1	1537	HP:0001263	Global developmental delay
OMIM:615824	CYC1	1537	HP:0001319	Neonatal hypotonia
OMIM:615824	CYC1	1537	HP:0002465	Poor speech
OMIM:615824	CYC1	1537	HP:0005280	Depressed nasal bridge
OMIM:615824	CYC1	1537	HP:0000752	Hyperactivity
OMIM:615824	CYC1	1537	HP:0000582	Upslanted palpebral fissure
OMIM:615824	CYC1	1537	HP:0000664	Synophrys
OMIM:615824	CYC1	1537	HP:0001511	Intrauterine growth retardation
OMIM:615824	LYRM7	90624	HP:0001942	Metabolic acidosis
OMIM:615824	LYRM7	90624	HP:0000286	Epicanthus
OMIM:615824	LYRM7	90624	HP:0100259	Postaxial polydactyly
OMIM:615824	LYRM7	90624	HP:0000028	Cryptorchidism
OMIM:615824	LYRM7	90624	HP:0001250	Seizures
OMIM:615824	LYRM7	90624	HP:0000718	Aggressive behavior
OMIM:615824	LYRM7	90624	HP:0001263	Global developmental delay
OMIM:615824	LYRM7	90624	HP:0001319	Neonatal hypotonia
OMIM:615824	LYRM7	90624	HP:0002465	Poor speech
OMIM:615824	LYRM7	90624	HP:0005280	Depressed nasal bridge
OMIM:615824	LYRM7	90624	HP:0000752	Hyperactivity
OMIM:615824	LYRM7	90624	HP:0000582	Upslanted palpebral fissure
OMIM:615824	LYRM7	90624	HP:0000664	Synophrys
OMIM:615824	LYRM7	90624	HP:0001511	Intrauterine growth retardation
OMIM:615824	UQCRB	7381	HP:0001942	Metabolic acidosis
OMIM:615824	UQCRB	7381	HP:0000286	Epicanthus
OMIM:615824	UQCRB	7381	HP:0100259	Postaxial polydactyly
OMIM:615824	UQCRB	7381	HP:0000028	Cryptorchidism
OMIM:615824	UQCRB	7381	HP:0001250	Seizures
OMIM:615824	UQCRB	7381	HP:0000718	Aggressive behavior
OMIM:615824	UQCRB	7381	HP:0001263	Global developmental delay
OMIM:615824	UQCRB	7381	HP:0001319	Neonatal hypotonia
OMIM:615824	UQCRB	7381	HP:0002465	Poor speech
OMIM:615824	UQCRB	7381	HP:0005280	Depressed nasal bridge
OMIM:615824	UQCRB	7381	HP:0000752	Hyperactivity
OMIM:615824	UQCRB	7381	HP:0000582	Upslanted palpebral fissure
OMIM:615824	UQCRB	7381	HP:0000664	Synophrys
OMIM:615824	UQCRB	7381	HP:0001511	Intrauterine growth retardation
OMIM:615824	TTC19	54902	HP:0001942	Metabolic acidosis
OMIM:615824	TTC19	54902	HP:0000286	Epicanthus
OMIM:615824	TTC19	54902	HP:0100259	Postaxial polydactyly
OMIM:615824	TTC19	54902	HP:0000028	Cryptorchidism
OMIM:615824	TTC19	54902	HP:0001250	Seizures
OMIM:615824	TTC19	54902	HP:0000718	Aggressive behavior
OMIM:615824	TTC19	54902	HP:0001263	Global developmental delay
OMIM:615824	TTC19	54902	HP:0001319	Neonatal hypotonia
OMIM:615824	TTC19	54902	HP:0002465	Poor speech
OMIM:615824	TTC19	54902	HP:0005280	Depressed nasal bridge
OMIM:615824	TTC19	54902	HP:0000752	Hyperactivity
OMIM:615824	TTC19	54902	HP:0000582	Upslanted palpebral fissure
OMIM:615824	TTC19	54902	HP:0000664	Synophrys
OMIM:615824	TTC19	54902	HP:0001511	Intrauterine growth retardation
OMIM:615824	CYTB	4519	HP:0001942	Metabolic acidosis
OMIM:615824	CYTB	4519	HP:0000286	Epicanthus
OMIM:615824	CYTB	4519	HP:0100259	Postaxial polydactyly
OMIM:615824	CYTB	4519	HP:0000028	Cryptorchidism
OMIM:615824	CYTB	4519	HP:0001250	Seizures
OMIM:615824	CYTB	4519	HP:0000718	Aggressive behavior
OMIM:615824	CYTB	4519	HP:0001263	Global developmental delay
OMIM:615824	CYTB	4519	HP:0001319	Neonatal hypotonia
OMIM:615824	CYTB	4519	HP:0002465	Poor speech
OMIM:615824	CYTB	4519	HP:0005280	Depressed nasal bridge
OMIM:615824	CYTB	4519	HP:0000752	Hyperactivity
OMIM:615824	CYTB	4519	HP:0000582	Upslanted palpebral fissure
OMIM:615824	CYTB	4519	HP:0000664	Synophrys
OMIM:615824	CYTB	4519	HP:0001511	Intrauterine growth retardation
OMIM:615824	UQCC3	790955	HP:0001942	Metabolic acidosis
OMIM:615824	UQCC3	790955	HP:0000286	Epicanthus
OMIM:615824	UQCC3	790955	HP:0100259	Postaxial polydactyly
OMIM:615824	UQCC3	790955	HP:0000028	Cryptorchidism
OMIM:615824	UQCC3	790955	HP:0001250	Seizures
OMIM:615824	UQCC3	790955	HP:0000718	Aggressive behavior
OMIM:615824	UQCC3	790955	HP:0001263	Global developmental delay
OMIM:615824	UQCC3	790955	HP:0001319	Neonatal hypotonia
OMIM:615824	UQCC3	790955	HP:0002465	Poor speech
OMIM:615824	UQCC3	790955	HP:0005280	Depressed nasal bridge
OMIM:615824	UQCC3	790955	HP:0000752	Hyperactivity
OMIM:615824	UQCC3	790955	HP:0000582	Upslanted palpebral fissure
OMIM:615824	UQCC3	790955	HP:0000664	Synophrys
OMIM:615824	UQCC3	790955	HP:0001511	Intrauterine growth retardation
OMIM:615824	BCS1L	617	HP:0001942	Metabolic acidosis
OMIM:615824	BCS1L	617	HP:0000286	Epicanthus
OMIM:615824	BCS1L	617	HP:0100259	Postaxial polydactyly
OMIM:615824	BCS1L	617	HP:0000028	Cryptorchidism
OMIM:615824	BCS1L	617	HP:0001250	Seizures
OMIM:615824	BCS1L	617	HP:0000718	Aggressive behavior
OMIM:615824	BCS1L	617	HP:0001263	Global developmental delay
OMIM:615824	BCS1L	617	HP:0001319	Neonatal hypotonia
OMIM:615824	BCS1L	617	HP:0002465	Poor speech
OMIM:615824	BCS1L	617	HP:0005280	Depressed nasal bridge
OMIM:615824	BCS1L	617	HP:0000752	Hyperactivity
OMIM:615824	BCS1L	617	HP:0000582	Upslanted palpebral fissure
OMIM:615824	BCS1L	617	HP:0000664	Synophrys
OMIM:615824	BCS1L	617	HP:0001511	Intrauterine growth retardation
OMIM:615824	UQCRC2	7385	HP:0001942	Metabolic acidosis
OMIM:615824	UQCRC2	7385	HP:0000286	Epicanthus
OMIM:615824	UQCRC2	7385	HP:0100259	Postaxial polydactyly
OMIM:615824	UQCRC2	7385	HP:0000028	Cryptorchidism
OMIM:615824	UQCRC2	7385	HP:0001250	Seizures
OMIM:615824	UQCRC2	7385	HP:0000718	Aggressive behavior
OMIM:615824	UQCRC2	7385	HP:0001263	Global developmental delay
OMIM:615824	UQCRC2	7385	HP:0001319	Neonatal hypotonia
OMIM:615824	UQCRC2	7385	HP:0002465	Poor speech
OMIM:615824	UQCRC2	7385	HP:0005280	Depressed nasal bridge
OMIM:615824	UQCRC2	7385	HP:0000752	Hyperactivity
OMIM:615824	UQCRC2	7385	HP:0000582	Upslanted palpebral fissure
OMIM:615824	UQCRC2	7385	HP:0000664	Synophrys
OMIM:615824	UQCRC2	7385	HP:0001511	Intrauterine growth retardation
OMIM:615824	UQCC2	84300	HP:0001942	Metabolic acidosis
OMIM:615824	UQCC2	84300	HP:0000286	Epicanthus
OMIM:615824	UQCC2	84300	HP:0100259	Postaxial polydactyly
OMIM:615824	UQCC2	84300	HP:0000028	Cryptorchidism
OMIM:615824	UQCC2	84300	HP:0001250	Seizures
OMIM:615824	UQCC2	84300	HP:0000718	Aggressive behavior
OMIM:615824	UQCC2	84300	HP:0001263	Global developmental delay
OMIM:615824	UQCC2	84300	HP:0001319	Neonatal hypotonia
OMIM:615824	UQCC2	84300	HP:0002465	Poor speech
OMIM:615824	UQCC2	84300	HP:0005280	Depressed nasal bridge
OMIM:615824	UQCC2	84300	HP:0000752	Hyperactivity
OMIM:615824	UQCC2	84300	HP:0000582	Upslanted palpebral fissure
OMIM:615824	UQCC2	84300	HP:0000664	Synophrys
OMIM:615824	UQCC2	84300	HP:0001511	Intrauterine growth retardation
OMIM:125853	HNF1B	6928	HP:0000855	Insulin resistance
OMIM:125853	HNF1B	6928	HP:0003584	Late onset
OMIM:125853	HNF1B	6928	HP:0005978	Type II diabetes mellitus
OMIM:125853	HNF1B	6928	HP:0000006	Autosomal dominant inheritance
OMIM:125853	AKT2	208	HP:0000855	Insulin resistance
OMIM:125853	AKT2	208	HP:0003584	Late onset
OMIM:125853	AKT2	208	HP:0005978	Type II diabetes mellitus
OMIM:125853	AKT2	208	HP:0000006	Autosomal dominant inheritance
OMIM:125853	ABCC8	6833	HP:0000855	Insulin resistance
OMIM:125853	ABCC8	6833	HP:0003584	Late onset
OMIM:125853	ABCC8	6833	HP:0005978	Type II diabetes mellitus
OMIM:125853	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:125853	HNF4A	3172	HP:0000855	Insulin resistance
OMIM:125853	HNF4A	3172	HP:0003584	Late onset
OMIM:125853	HNF4A	3172	HP:0005978	Type II diabetes mellitus
OMIM:125853	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:125853	GCK	2645	HP:0000855	Insulin resistance
OMIM:125853	GCK	2645	HP:0003584	Late onset
OMIM:125853	GCK	2645	HP:0005978	Type II diabetes mellitus
OMIM:125853	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:125853	PAX4	5078	HP:0000855	Insulin resistance
OMIM:125853	PAX4	5078	HP:0003584	Late onset
OMIM:125853	PAX4	5078	HP:0005978	Type II diabetes mellitus
OMIM:125853	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:125853	HMGA1	3159	HP:0000855	Insulin resistance
OMIM:125853	HMGA1	3159	HP:0003584	Late onset
OMIM:125853	HMGA1	3159	HP:0005978	Type II diabetes mellitus
OMIM:125853	HMGA1	3159	HP:0000006	Autosomal dominant inheritance
OMIM:231000	GBA	2629	HP:0000716	Depression
OMIM:231000	GBA	2629	HP:0002123	Generalized myoclonic seizures
OMIM:231000	GBA	2629	HP:0000597	Ophthalmoparesis
OMIM:231000	GBA	2629	HP:0000726	Dementia
OMIM:231000	GBA	2629	HP:0000486	Strabismus
OMIM:231000	GBA	2629	HP:0002376	Developmental regression
OMIM:231000	GBA	2629	HP:0000093	Proteinuria
OMIM:231000	GBA	2629	HP:0001336	Myoclonus
OMIM:231000	GBA	2629	HP:0001288	Gait disturbance
OMIM:231000	GBA	2629	HP:0002240	Hepatomegaly
OMIM:231000	GBA	2629	HP:0001250	Seizures
OMIM:231000	GBA	2629	HP:0011001	Increased bone mineral density
OMIM:231000	GBA	2629	HP:0001276	Hypertonia
OMIM:231000	GBA	2629	HP:0002205	Recurrent respiratory infections
OMIM:231000	GBA	2629	HP:0010702	Increased antibody level in blood
OMIM:231000	GBA	2629	HP:0001646	Abnormality of the aortic valve
OMIM:231000	GBA	2629	HP:0002750	Delayed skeletal maturation
OMIM:231000	GBA	2629	HP:0001789	Hydrops fetalis
OMIM:231000	GBA	2629	HP:0002344	Progressive neurologic deterioration
OMIM:231000	GBA	2629	HP:0002757	Recurrent fractures
OMIM:231000	GBA	2629	HP:0002797	Osteolysis
OMIM:231000	GBA	2629	HP:0001882	Leukopenia
OMIM:231000	GBA	2629	HP:0002313	Spastic paraparesis
OMIM:231000	GBA	2629	HP:0001637	Abnormality of the myocardium
OMIM:231000	GBA	2629	HP:0001744	Splenomegaly
OMIM:231000	GBA	2629	HP:0001873	Thrombocytopenia
OMIM:231000	GBA	2629	HP:0001903	Anemia
OMIM:231000	GBA	2629	HP:0002311	Incoordination
OMIM:231000	GBA	2629	HP:0000007	Autosomal recessive inheritance
OMIM:231000	GBA	2629	HP:0003581	Adult onset
OMIM:231000	GBA	2629	HP:0003812	Phenotypic variability
OMIM:231000	GBA	2629	HP:0001876	Pancytopenia
OMIM:231000	GBA	2629	HP:0002653	Bone pain
OMIM:231000	GBA	2629	HP:0005528	Bone marrow hypocellularity
OMIM:231000	GBA	2629	HP:0001251	Ataxia
OMIM:231000	GBA	2629	HP:0002091	Restrictive lung disease
OMIM:231000	GBA	2629	HP:0002167	Neurological speech impairment
OMIM:231000	GBA	2629	HP:0004322	Short stature
OMIM:231000	GBA	2629	HP:0001270	Motor delay
OMIM:231000	GBA	2629	HP:0004934	Vascular calcification
OMIM:231000	GBA	2629	HP:0004325	Decreased body weight
OMIM:231000	GBA	2629	HP:0000790	Hematuria
OMIM:615005	CRH	1392	HP:0002133	Status epilepticus
OMIM:615005	CRH	1392	HP:0000718	Aggressive behavior
OMIM:615005	CRH	1392	HP:0000006	Autosomal dominant inheritance
OMIM:615005	CRH	1392	HP:0001249	Intellectual disability
OMIM:615005	CRH	1392	HP:0000709	Psychosis
OMIM:615005	CRH	1392	HP:0007359	Focal seizures
OMIM:615005	CRH	1392	HP:0100543	Cognitive impairment
OMIM:615005	CHRNA4	1137	HP:0002133	Status epilepticus
OMIM:615005	CHRNA4	1137	HP:0000718	Aggressive behavior
OMIM:615005	CHRNA4	1137	HP:0000006	Autosomal dominant inheritance
OMIM:615005	CHRNA4	1137	HP:0001249	Intellectual disability
OMIM:615005	CHRNA4	1137	HP:0000709	Psychosis
OMIM:615005	CHRNA4	1137	HP:0007359	Focal seizures
OMIM:615005	CHRNA4	1137	HP:0100543	Cognitive impairment
OMIM:615005	DEPDC5	9681	HP:0002133	Status epilepticus
OMIM:615005	DEPDC5	9681	HP:0000718	Aggressive behavior
OMIM:615005	DEPDC5	9681	HP:0000006	Autosomal dominant inheritance
OMIM:615005	DEPDC5	9681	HP:0001249	Intellectual disability
OMIM:615005	DEPDC5	9681	HP:0000709	Psychosis
OMIM:615005	DEPDC5	9681	HP:0007359	Focal seizures
OMIM:615005	DEPDC5	9681	HP:0100543	Cognitive impairment
OMIM:615005	CHRNB2	1141	HP:0002133	Status epilepticus
OMIM:615005	CHRNB2	1141	HP:0000718	Aggressive behavior
OMIM:615005	CHRNB2	1141	HP:0000006	Autosomal dominant inheritance
OMIM:615005	CHRNB2	1141	HP:0001249	Intellectual disability
OMIM:615005	CHRNB2	1141	HP:0000709	Psychosis
OMIM:615005	CHRNB2	1141	HP:0007359	Focal seizures
OMIM:615005	CHRNB2	1141	HP:0100543	Cognitive impairment
OMIM:615005	KCNT1	57582	HP:0002133	Status epilepticus
OMIM:615005	KCNT1	57582	HP:0000718	Aggressive behavior
OMIM:615005	KCNT1	57582	HP:0000006	Autosomal dominant inheritance
OMIM:615005	KCNT1	57582	HP:0001249	Intellectual disability
OMIM:615005	KCNT1	57582	HP:0000709	Psychosis
OMIM:615005	KCNT1	57582	HP:0007359	Focal seizures
OMIM:615005	KCNT1	57582	HP:0100543	Cognitive impairment
OMIM:615005	CHRNA2	1135	HP:0002133	Status epilepticus
OMIM:615005	CHRNA2	1135	HP:0000718	Aggressive behavior
OMIM:615005	CHRNA2	1135	HP:0000006	Autosomal dominant inheritance
OMIM:615005	CHRNA2	1135	HP:0001249	Intellectual disability
OMIM:615005	CHRNA2	1135	HP:0000709	Psychosis
OMIM:615005	CHRNA2	1135	HP:0007359	Focal seizures
OMIM:615005	CHRNA2	1135	HP:0100543	Cognitive impairment
OMIM:616402	ASPM	259266	HP:0001321	Cerebellar hypoplasia
OMIM:616402	ASPM	259266	HP:0001250	Seizures
OMIM:616402	ASPM	259266	HP:0001263	Global developmental delay
OMIM:616402	ASPM	259266	HP:0000718	Aggressive behavior
OMIM:616402	ASPM	259266	HP:0001249	Intellectual disability
OMIM:616402	ASPM	259266	HP:0002465	Poor speech
OMIM:616402	ASPM	259266	HP:0000252	Microcephaly
OMIM:616402	MCPH1	79648	HP:0001321	Cerebellar hypoplasia
OMIM:616402	MCPH1	79648	HP:0001250	Seizures
OMIM:616402	MCPH1	79648	HP:0001263	Global developmental delay
OMIM:616402	MCPH1	79648	HP:0000718	Aggressive behavior
OMIM:616402	MCPH1	79648	HP:0001249	Intellectual disability
OMIM:616402	MCPH1	79648	HP:0002465	Poor speech
OMIM:616402	MCPH1	79648	HP:0000252	Microcephaly
OMIM:616402	ANKLE2	23141	HP:0001321	Cerebellar hypoplasia
OMIM:616402	ANKLE2	23141	HP:0001250	Seizures
OMIM:616402	ANKLE2	23141	HP:0001263	Global developmental delay
OMIM:616402	ANKLE2	23141	HP:0000718	Aggressive behavior
OMIM:616402	ANKLE2	23141	HP:0001249	Intellectual disability
OMIM:616402	ANKLE2	23141	HP:0002465	Poor speech
OMIM:616402	ANKLE2	23141	HP:0000252	Microcephaly
OMIM:616402	SASS6	163786	HP:0001321	Cerebellar hypoplasia
OMIM:616402	SASS6	163786	HP:0001250	Seizures
OMIM:616402	SASS6	163786	HP:0001263	Global developmental delay
OMIM:616402	SASS6	163786	HP:0000718	Aggressive behavior
OMIM:616402	SASS6	163786	HP:0001249	Intellectual disability
OMIM:616402	SASS6	163786	HP:0002465	Poor speech
OMIM:616402	SASS6	163786	HP:0000252	Microcephaly
OMIM:616402	CDK5RAP2	55755	HP:0001321	Cerebellar hypoplasia
OMIM:616402	CDK5RAP2	55755	HP:0001250	Seizures
OMIM:616402	CDK5RAP2	55755	HP:0001263	Global developmental delay
OMIM:616402	CDK5RAP2	55755	HP:0000718	Aggressive behavior
OMIM:616402	CDK5RAP2	55755	HP:0001249	Intellectual disability
OMIM:616402	CDK5RAP2	55755	HP:0002465	Poor speech
OMIM:616402	CDK5RAP2	55755	HP:0000252	Microcephaly
OMIM:616402	MFSD2A	84879	HP:0001321	Cerebellar hypoplasia
OMIM:616402	MFSD2A	84879	HP:0001250	Seizures
OMIM:616402	MFSD2A	84879	HP:0001263	Global developmental delay
OMIM:616402	MFSD2A	84879	HP:0000718	Aggressive behavior
OMIM:616402	MFSD2A	84879	HP:0001249	Intellectual disability
OMIM:616402	MFSD2A	84879	HP:0002465	Poor speech
OMIM:616402	MFSD2A	84879	HP:0000252	Microcephaly
OMIM:616402	CEP152	22995	HP:0001321	Cerebellar hypoplasia
OMIM:616402	CEP152	22995	HP:0001250	Seizures
OMIM:616402	CEP152	22995	HP:0001263	Global developmental delay
OMIM:616402	CEP152	22995	HP:0000718	Aggressive behavior
OMIM:616402	CEP152	22995	HP:0001249	Intellectual disability
OMIM:616402	CEP152	22995	HP:0002465	Poor speech
OMIM:616402	CEP152	22995	HP:0000252	Microcephaly
OMIM:616402	WDR62	284403	HP:0001321	Cerebellar hypoplasia
OMIM:616402	WDR62	284403	HP:0001250	Seizures
OMIM:616402	WDR62	284403	HP:0001263	Global developmental delay
OMIM:616402	WDR62	284403	HP:0000718	Aggressive behavior
OMIM:616402	WDR62	284403	HP:0001249	Intellectual disability
OMIM:616402	WDR62	284403	HP:0002465	Poor speech
OMIM:616402	WDR62	284403	HP:0000252	Microcephaly
OMIM:616402	PHC1	1911	HP:0001321	Cerebellar hypoplasia
OMIM:616402	PHC1	1911	HP:0001250	Seizures
OMIM:616402	PHC1	1911	HP:0001263	Global developmental delay
OMIM:616402	PHC1	1911	HP:0000718	Aggressive behavior
OMIM:616402	PHC1	1911	HP:0001249	Intellectual disability
OMIM:616402	PHC1	1911	HP:0002465	Poor speech
OMIM:616402	PHC1	1911	HP:0000252	Microcephaly
OMIM:616402	CASC5	57082	HP:0001321	Cerebellar hypoplasia
OMIM:616402	CASC5	57082	HP:0001250	Seizures
OMIM:616402	CASC5	57082	HP:0001263	Global developmental delay
OMIM:616402	CASC5	57082	HP:0000718	Aggressive behavior
OMIM:616402	CASC5	57082	HP:0001249	Intellectual disability
OMIM:616402	CASC5	57082	HP:0002465	Poor speech
OMIM:616402	CASC5	57082	HP:0000252	Microcephaly
OMIM:616402	CENPJ	55835	HP:0001321	Cerebellar hypoplasia
OMIM:616402	CENPJ	55835	HP:0001250	Seizures
OMIM:616402	CENPJ	55835	HP:0001263	Global developmental delay
OMIM:616402	CENPJ	55835	HP:0000718	Aggressive behavior
OMIM:616402	CENPJ	55835	HP:0001249	Intellectual disability
OMIM:616402	CENPJ	55835	HP:0002465	Poor speech
OMIM:616402	CENPJ	55835	HP:0000252	Microcephaly
OMIM:616402	STIL	6491	HP:0001321	Cerebellar hypoplasia
OMIM:616402	STIL	6491	HP:0001250	Seizures
OMIM:616402	STIL	6491	HP:0001263	Global developmental delay
OMIM:616402	STIL	6491	HP:0000718	Aggressive behavior
OMIM:616402	STIL	6491	HP:0001249	Intellectual disability
OMIM:616402	STIL	6491	HP:0002465	Poor speech
OMIM:616402	STIL	6491	HP:0000252	Microcephaly
OMIM:616402	CDK6	1021	HP:0001321	Cerebellar hypoplasia
OMIM:616402	CDK6	1021	HP:0001250	Seizures
OMIM:616402	CDK6	1021	HP:0001263	Global developmental delay
OMIM:616402	CDK6	1021	HP:0000718	Aggressive behavior
OMIM:616402	CDK6	1021	HP:0001249	Intellectual disability
OMIM:616402	CDK6	1021	HP:0002465	Poor speech
OMIM:616402	CDK6	1021	HP:0000252	Microcephaly
OMIM:616402	CEP135	9662	HP:0001321	Cerebellar hypoplasia
OMIM:616402	CEP135	9662	HP:0001250	Seizures
OMIM:616402	CEP135	9662	HP:0001263	Global developmental delay
OMIM:616402	CEP135	9662	HP:0000718	Aggressive behavior
OMIM:616402	CEP135	9662	HP:0001249	Intellectual disability
OMIM:616402	CEP135	9662	HP:0002465	Poor speech
OMIM:616402	CEP135	9662	HP:0000252	Microcephaly
OMIM:616402	CEP63	80254	HP:0001321	Cerebellar hypoplasia
OMIM:616402	CEP63	80254	HP:0001250	Seizures
OMIM:616402	CEP63	80254	HP:0001263	Global developmental delay
OMIM:616402	CEP63	80254	HP:0000718	Aggressive behavior
OMIM:616402	CEP63	80254	HP:0001249	Intellectual disability
OMIM:616402	CEP63	80254	HP:0002465	Poor speech
OMIM:616402	CEP63	80254	HP:0000252	Microcephaly
OMIM:616418	CNNM2	54805	HP:0000252	Microcephaly
OMIM:616418	CNNM2	54805	HP:0001263	Global developmental delay
OMIM:616418	CNNM2	54805	HP:0001250	Seizures
OMIM:616418	CNNM2	54805	HP:0001249	Intellectual disability
OMIM:616418	EGF	1950	HP:0000252	Microcephaly
OMIM:616418	EGF	1950	HP:0001263	Global developmental delay
OMIM:616418	EGF	1950	HP:0001250	Seizures
OMIM:616418	EGF	1950	HP:0001249	Intellectual disability
OMIM:135150	FLCN	201163	HP:0000006	Autosomal dominant inheritance
OMIM:135150	FLCN	201163	HP:0007378	Neoplasm of the gastrointestinal tract
OMIM:135150	FLCN	201163	HP:0007703	Abnormality of retinal pigmentation
OMIM:135150	FLCN	201163	HP:0000107	Renal cyst
OMIM:135150	FLCN	201163	HP:0009726	Renal neoplasm
OMIM:135150	FLCN	201163	HP:0100031	Neoplasm of the thyroid gland
OMIM:135150	FLCN	201163	HP:0001595	Abnormality of the hair
OMIM:135150	FLCN	201163	HP:0000951	Abnormality of the skin
OMIM:135150	FLCN	201163	HP:0002097	Emphysema
OMIM:135150	FLCN	201163	HP:0001438	Abnormality of the abdomen
ORPHANET:861	TCOF1	6949	HP:0000028	Cryptorchidism
ORPHANET:861	TCOF1	6949	HP:0000204	Cleft upper lip
ORPHANET:861	TCOF1	6949	HP:0000154	Wide mouth
ORPHANET:861	TCOF1	6949	HP:0000431	Wide nasal bridge
ORPHANET:861	TCOF1	6949	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:861	TCOF1	6949	HP:0000046	Scrotal hypoplasia
ORPHANET:861	TCOF1	6949	HP:0000612	Iris coloboma
ORPHANET:861	TCOF1	6949	HP:0008736	Hypoplasia of penis
ORPHANET:861	TCOF1	6949	HP:0000272	Malar flattening
ORPHANET:861	TCOF1	6949	HP:0100543	Cognitive impairment
ORPHANET:861	TCOF1	6949	HP:0000834	Abnormality of the adrenal glands
ORPHANET:861	TCOF1	6949	HP:0000820	Abnormality of the thyroid gland
ORPHANET:861	TCOF1	6949	HP:0002007	Frontal bossing
ORPHANET:861	TCOF1	6949	HP:0000294	Low anterior hairline
ORPHANET:861	TCOF1	6949	HP:0000518	Cataract
ORPHANET:861	TCOF1	6949	HP:0009804	Reduced number of teeth
ORPHANET:861	TCOF1	6949	HP:0000274	Small face
ORPHANET:861	TCOF1	6949	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:861	TCOF1	6949	HP:0000316	Hypertelorism
ORPHANET:861	TCOF1	6949	HP:0002084	Encephalocele
ORPHANET:861	TCOF1	6949	HP:0000499	Abnormality of the eyelashes
ORPHANET:861	TCOF1	6949	HP:0000384	Preauricular skin tag
ORPHANET:861	TCOF1	6949	HP:0002093	Respiratory insufficiency
ORPHANET:861	TCOF1	6949	HP:0000486	Strabismus
ORPHANET:861	TCOF1	6949	HP:0000689	Dental malocclusion
ORPHANET:861	TCOF1	6949	HP:0000405	Conductive hearing impairment
ORPHANET:861	TCOF1	6949	HP:0000413	Atresia of the external auditory canal
ORPHANET:861	TCOF1	6949	HP:0100589	Urogenital fistula
ORPHANET:861	TCOF1	6949	HP:0000682	Abnormality of dental enamel
ORPHANET:861	TCOF1	6949	HP:0000625	Cleft eyelid
ORPHANET:861	TCOF1	6949	HP:0000494	Downslanted palpebral fissures
ORPHANET:861	TCOF1	6949	HP:0002006	Facial cleft
ORPHANET:861	TCOF1	6949	HP:0002575	Tracheoesophageal fistula
ORPHANET:861	TCOF1	6949	HP:0000347	Micrognathia
ORPHANET:861	TCOF1	6949	HP:0000453	Choanal atresia
ORPHANET:861	TCOF1	6949	HP:0004348	Abnormality of bone mineral density
ORPHANET:861	TCOF1	6949	HP:0001643	Patent ductus arteriosus
ORPHANET:861	TCOF1	6949	HP:0006482	Abnormality of dental morphology
ORPHANET:861	TCOF1	6949	HP:0002167	Neurological speech impairment
ORPHANET:861	TCOF1	6949	HP:0000175	Cleft palate
ORPHANET:861	TCOF1	6949	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:861	TCOF1	6949	HP:0000505	Visual impairment
ORPHANET:861	TCOF1	6949	HP:0000162	Glossoptosis
ORPHANET:861	TCOF1	6949	HP:0002652	Skeletal dysplasia
ORPHANET:861	POLR1D	51082	HP:0000028	Cryptorchidism
ORPHANET:861	POLR1D	51082	HP:0000204	Cleft upper lip
ORPHANET:861	POLR1D	51082	HP:0000154	Wide mouth
ORPHANET:861	POLR1D	51082	HP:0000431	Wide nasal bridge
ORPHANET:861	POLR1D	51082	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:861	POLR1D	51082	HP:0000046	Scrotal hypoplasia
ORPHANET:861	POLR1D	51082	HP:0000612	Iris coloboma
ORPHANET:861	POLR1D	51082	HP:0008736	Hypoplasia of penis
ORPHANET:861	POLR1D	51082	HP:0000272	Malar flattening
ORPHANET:861	POLR1D	51082	HP:0100543	Cognitive impairment
ORPHANET:861	POLR1D	51082	HP:0000834	Abnormality of the adrenal glands
ORPHANET:861	POLR1D	51082	HP:0000820	Abnormality of the thyroid gland
ORPHANET:861	POLR1D	51082	HP:0002007	Frontal bossing
ORPHANET:861	POLR1D	51082	HP:0000294	Low anterior hairline
ORPHANET:861	POLR1D	51082	HP:0000518	Cataract
ORPHANET:861	POLR1D	51082	HP:0009804	Reduced number of teeth
ORPHANET:861	POLR1D	51082	HP:0000274	Small face
ORPHANET:861	POLR1D	51082	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:861	POLR1D	51082	HP:0000316	Hypertelorism
ORPHANET:861	POLR1D	51082	HP:0002084	Encephalocele
ORPHANET:861	POLR1D	51082	HP:0000499	Abnormality of the eyelashes
ORPHANET:861	POLR1D	51082	HP:0000384	Preauricular skin tag
ORPHANET:861	POLR1D	51082	HP:0002093	Respiratory insufficiency
ORPHANET:861	POLR1D	51082	HP:0000486	Strabismus
ORPHANET:861	POLR1D	51082	HP:0000689	Dental malocclusion
ORPHANET:861	POLR1D	51082	HP:0000405	Conductive hearing impairment
ORPHANET:861	POLR1D	51082	HP:0000413	Atresia of the external auditory canal
ORPHANET:861	POLR1D	51082	HP:0100589	Urogenital fistula
ORPHANET:861	POLR1D	51082	HP:0000682	Abnormality of dental enamel
ORPHANET:861	POLR1D	51082	HP:0000625	Cleft eyelid
ORPHANET:861	POLR1D	51082	HP:0000494	Downslanted palpebral fissures
ORPHANET:861	POLR1D	51082	HP:0002006	Facial cleft
ORPHANET:861	POLR1D	51082	HP:0002575	Tracheoesophageal fistula
ORPHANET:861	POLR1D	51082	HP:0000347	Micrognathia
ORPHANET:861	POLR1D	51082	HP:0000453	Choanal atresia
ORPHANET:861	POLR1D	51082	HP:0004348	Abnormality of bone mineral density
ORPHANET:861	POLR1D	51082	HP:0001643	Patent ductus arteriosus
ORPHANET:861	POLR1D	51082	HP:0006482	Abnormality of dental morphology
ORPHANET:861	POLR1D	51082	HP:0002167	Neurological speech impairment
ORPHANET:861	POLR1D	51082	HP:0000175	Cleft palate
ORPHANET:861	POLR1D	51082	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:861	POLR1D	51082	HP:0000505	Visual impairment
ORPHANET:861	POLR1D	51082	HP:0000162	Glossoptosis
ORPHANET:861	POLR1D	51082	HP:0002652	Skeletal dysplasia
ORPHANET:861	POLR1C	9533	HP:0000028	Cryptorchidism
ORPHANET:861	POLR1C	9533	HP:0000204	Cleft upper lip
ORPHANET:861	POLR1C	9533	HP:0000154	Wide mouth
ORPHANET:861	POLR1C	9533	HP:0000431	Wide nasal bridge
ORPHANET:861	POLR1C	9533	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHANET:861	POLR1C	9533	HP:0000046	Scrotal hypoplasia
ORPHANET:861	POLR1C	9533	HP:0000612	Iris coloboma
ORPHANET:861	POLR1C	9533	HP:0008736	Hypoplasia of penis
ORPHANET:861	POLR1C	9533	HP:0000272	Malar flattening
ORPHANET:861	POLR1C	9533	HP:0100543	Cognitive impairment
ORPHANET:861	POLR1C	9533	HP:0000834	Abnormality of the adrenal glands
ORPHANET:861	POLR1C	9533	HP:0000820	Abnormality of the thyroid gland
ORPHANET:861	POLR1C	9533	HP:0002007	Frontal bossing
ORPHANET:861	POLR1C	9533	HP:0000294	Low anterior hairline
ORPHANET:861	POLR1C	9533	HP:0000518	Cataract
ORPHANET:861	POLR1C	9533	HP:0009804	Reduced number of teeth
ORPHANET:861	POLR1C	9533	HP:0000274	Small face
ORPHANET:861	POLR1C	9533	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:861	POLR1C	9533	HP:0000316	Hypertelorism
ORPHANET:861	POLR1C	9533	HP:0002084	Encephalocele
ORPHANET:861	POLR1C	9533	HP:0000499	Abnormality of the eyelashes
ORPHANET:861	POLR1C	9533	HP:0000384	Preauricular skin tag
ORPHANET:861	POLR1C	9533	HP:0002093	Respiratory insufficiency
ORPHANET:861	POLR1C	9533	HP:0000486	Strabismus
ORPHANET:861	POLR1C	9533	HP:0000689	Dental malocclusion
ORPHANET:861	POLR1C	9533	HP:0000405	Conductive hearing impairment
ORPHANET:861	POLR1C	9533	HP:0000413	Atresia of the external auditory canal
ORPHANET:861	POLR1C	9533	HP:0100589	Urogenital fistula
ORPHANET:861	POLR1C	9533	HP:0000682	Abnormality of dental enamel
ORPHANET:861	POLR1C	9533	HP:0000625	Cleft eyelid
ORPHANET:861	POLR1C	9533	HP:0000494	Downslanted palpebral fissures
ORPHANET:861	POLR1C	9533	HP:0002006	Facial cleft
ORPHANET:861	POLR1C	9533	HP:0002575	Tracheoesophageal fistula
ORPHANET:861	POLR1C	9533	HP:0000347	Micrognathia
ORPHANET:861	POLR1C	9533	HP:0000453	Choanal atresia
ORPHANET:861	POLR1C	9533	HP:0004348	Abnormality of bone mineral density
ORPHANET:861	POLR1C	9533	HP:0001643	Patent ductus arteriosus
ORPHANET:861	POLR1C	9533	HP:0006482	Abnormality of dental morphology
ORPHANET:861	POLR1C	9533	HP:0002167	Neurological speech impairment
ORPHANET:861	POLR1C	9533	HP:0000175	Cleft palate
ORPHANET:861	POLR1C	9533	HP:0010669	Hypoplasia of the zygomatic bone
ORPHANET:861	POLR1C	9533	HP:0000505	Visual impairment
ORPHANET:861	POLR1C	9533	HP:0000162	Glossoptosis
ORPHANET:861	POLR1C	9533	HP:0002652	Skeletal dysplasia
OMIM:253310	GLE1	2733	HP:0000347	Micrognathia
OMIM:253310	GLE1	2733	HP:0002804	Arthrogryposis multiplex congenita
OMIM:253310	GLE1	2733	HP:0003103	Abnormal cortical bone morphology
OMIM:253310	GLE1	2733	HP:0001561	Polyhydramnios
OMIM:253310	GLE1	2733	HP:0000772	Abnormality of the ribs
OMIM:253310	GLE1	2733	HP:0001560	Abnormality of the amniotic fluid
OMIM:253310	GLE1	2733	HP:0002757	Recurrent fractures
OMIM:253310	GLE1	2733	HP:0003202	Skeletal muscle atrophy
OMIM:253310	GLE1	2733	HP:0003100	Slender long bone
OMIM:253310	GLE1	2733	HP:0003312	Abnormal form of the vertebral bodies
OMIM:253310	GLE1	2733	HP:0000007	Autosomal recessive inheritance
OMIM:253310	GLE1	2733	HP:0009811	Abnormality of the elbow
OMIM:253310	GLE1	2733	HP:0009004	Hypoplasia of the musculature
OMIM:253310	GLE1	2733	HP:0006703	Aplasia/Hypoplasia of the lungs
OMIM:253310	GLE1	2733	HP:0004322	Short stature
OMIM:253310	GLE1	2733	HP:0000765	Abnormality of the thorax
OMIM:253310	GLE1	2733	HP:0003272	Abnormality of the hip bone
OMIM:253310	GLE1	2733	HP:0000470	Short neck
OMIM:253310	GLE1	2733	HP:0002089	Pulmonary hypoplasia
OMIM:253310	GLE1	2733	HP:0000316	Hypertelorism
OMIM:253310	GLE1	2733	HP:0000969	Edema
OMIM:253310	GLE1	2733	HP:0001376	Limitation of joint mobility
OMIM:253310	GLE1	2733	HP:0000465	Webbed neck
OMIM:253310	GLE1	2733	HP:0000368	Low-set, posteriorly rotated ears
OMIM:162500	PMP22	5376	HP:0002093	Respiratory insufficiency
OMIM:162500	PMP22	5376	HP:0000006	Autosomal dominant inheritance
OMIM:162500	PMP22	5376	HP:0001324	Muscle weakness
OMIM:162500	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
OMIM:162500	PMP22	5376	HP:0001315	Reduced tendon reflexes
OMIM:162500	PMP22	5376	HP:0006824	Cranial nerve paralysis
OMIM:162500	PMP22	5376	HP:0001265	Hyporeflexia
OMIM:162500	PMP22	5376	HP:0001761	Pes cavus
OMIM:162500	PMP22	5376	HP:0000762	Decreased nerve conduction velocity
OMIM:162500	PMP22	5376	HP:0002650	Scoliosis
OMIM:162500	PMP22	5376	HP:0001605	Vocal cord paralysis
OMIM:162500	PMP22	5376	HP:0003401	Paresthesia
OMIM:162500	PMP22	5376	HP:0001608	Abnormality of the voice
OMIM:162500	PMP22	5376	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:300943	AIP	9049	HP:0000845	Growth hormone excess
OMIM:300943	AIP	9049	HP:0002893	Pituitary adenoma
OMIM:300943	GPR101	83550	HP:0000845	Growth hormone excess
OMIM:300943	GPR101	83550	HP:0002893	Pituitary adenoma
OMIM:182212	SKI	6497	HP:0000494	Downslanted palpebral fissures
OMIM:182212	SKI	6497	HP:0001166	Arachnodactyly
OMIM:182212	SKI	6497	HP:0001388	Joint laxity
OMIM:182212	SKI	6497	HP:0003016	Metaphyseal widening
OMIM:182212	SKI	6497	HP:0000974	Hyperextensible skin
OMIM:182212	SKI	6497	HP:0000506	Telecanthus
OMIM:182212	SKI	6497	HP:0001363	Craniosynostosis
OMIM:182212	SKI	6497	HP:0001537	Umbilical hernia
OMIM:182212	SKI	6497	HP:0000348	High forehead
OMIM:182212	SKI	6497	HP:0000368	Low-set, posteriorly rotated ears
OMIM:182212	SKI	6497	HP:0000268	Dolichocephaly
OMIM:182212	SKI	6497	HP:0000508	Ptosis
OMIM:182212	SKI	6497	HP:0000486	Strabismus
OMIM:182212	SKI	6497	HP:0001724	Aortic dilatation
OMIM:182212	SKI	6497	HP:0003745	Sporadic
OMIM:182212	SKI	6497	HP:0001840	Metatarsus adductus
OMIM:182212	SKI	6497	HP:0001763	Pes planus
OMIM:182212	SKI	6497	HP:0002104	Apnea
OMIM:182212	SKI	6497	HP:0000252	Microcephaly
OMIM:182212	SKI	6497	HP:0000768	Pectus carinatum
OMIM:182212	SKI	6497	HP:0003083	Dislocated radial head
OMIM:182212	SKI	6497	HP:0000545	Myopia
OMIM:182212	SKI	6497	HP:0000218	High palate
OMIM:182212	SKI	6497	HP:0000463	Anteverted nares
OMIM:182212	SKI	6497	HP:0000316	Hypertelorism
OMIM:182212	SKI	6497	HP:0000405	Conductive hearing impairment
OMIM:182212	SKI	6497	HP:0001762	Talipes equinovarus
OMIM:182212	SKI	6497	HP:0002308	Arnold-Chiari malformation
OMIM:182212	SKI	6497	HP:0001634	Mitral valve prolapse
OMIM:182212	SKI	6497	HP:0000767	Pectus excavatum
OMIM:182212	SKI	6497	HP:0004349	Reduced bone mineral density
OMIM:182212	SKI	6497	HP:0003042	Elbow dislocation
OMIM:182212	SKI	6497	HP:0001376	Limitation of joint mobility
OMIM:182212	SKI	6497	HP:0009473	Joint contracture of the hand
OMIM:182212	SKI	6497	HP:0001382	Joint hypermobility
OMIM:182212	SKI	6497	HP:0000347	Micrognathia
OMIM:182212	SKI	6497	HP:0000327	Hypoplasia of the maxilla
OMIM:182212	SKI	6497	HP:0000006	Autosomal dominant inheritance
OMIM:182212	SKI	6497	HP:0001249	Intellectual disability
OMIM:182212	SKI	6497	HP:0000028	Cryptorchidism
OMIM:182212	SKI	6497	HP:0002650	Scoliosis
OMIM:182212	SKI	6497	HP:0002857	Genu valgum
OMIM:182212	SKI	6497	HP:0001263	Global developmental delay
OMIM:182212	SKI	6497	HP:0000189	Narrow palate
OMIM:182212	SKI	6497	HP:0003312	Abnormal form of the vertebral bodies
OMIM:182212	SKI	6497	HP:0002119	Ventriculomegaly
OMIM:182212	SKI	6497	HP:0000023	Inguinal hernia
OMIM:182212	SKI	6497	HP:0008872	Feeding difficulties in infancy
OMIM:182212	SKI	6497	HP:0001252	Muscular hypotonia
OMIM:182212	SKI	6497	HP:0002007	Frontal bossing
OMIM:182212	SKI	6497	HP:0100490	Camptodactyly of finger
OMIM:182212	SKI	6497	HP:0100543	Cognitive impairment
OMIM:182212	SKI	6497	HP:0001883	Talipes
OMIM:182212	SKI	6497	HP:0007099	Arnold-Chiari type I malformation
OMIM:182212	SKI	6497	HP:0000689	Dental malocclusion
OMIM:182212	SKI	6497	HP:0000944	Abnormality of the metaphyses
OMIM:182212	SKI	6497	HP:0001646	Abnormality of the aortic valve
OMIM:182212	SKI	6497	HP:0000377	Abnormality of the pinna
OMIM:182212	SKI	6497	HP:0000938	Osteopenia
OMIM:182212	SKI	6497	HP:0000772	Abnormality of the ribs
OMIM:182212	SKI	6497	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:182212	SKI	6497	HP:0000520	Proptosis
OMIM:182212	SKI	6497	HP:0001633	Abnormality of the mitral valve
OMIM:182212	SKI	6497	HP:0000774	Narrow chest
OMIM:182212	SKI	6497	HP:0000238	Hydrocephalus
OMIM:182212	SKI	6497	HP:0002020	Gastroesophageal reflux
OMIM:182212	SKI	6497	HP:0002816	Genu recurvatum
OMIM:182212	FBN1	2200	HP:0000494	Downslanted palpebral fissures
OMIM:182212	FBN1	2200	HP:0001166	Arachnodactyly
OMIM:182212	FBN1	2200	HP:0001388	Joint laxity
OMIM:182212	FBN1	2200	HP:0003016	Metaphyseal widening
OMIM:182212	FBN1	2200	HP:0000974	Hyperextensible skin
OMIM:182212	FBN1	2200	HP:0000506	Telecanthus
OMIM:182212	FBN1	2200	HP:0001363	Craniosynostosis
OMIM:182212	FBN1	2200	HP:0001537	Umbilical hernia
OMIM:182212	FBN1	2200	HP:0000348	High forehead
OMIM:182212	FBN1	2200	HP:0000368	Low-set, posteriorly rotated ears
OMIM:182212	FBN1	2200	HP:0000268	Dolichocephaly
OMIM:182212	FBN1	2200	HP:0000508	Ptosis
OMIM:182212	FBN1	2200	HP:0000486	Strabismus
OMIM:182212	FBN1	2200	HP:0001724	Aortic dilatation
OMIM:182212	FBN1	2200	HP:0003745	Sporadic
OMIM:182212	FBN1	2200	HP:0001840	Metatarsus adductus
OMIM:182212	FBN1	2200	HP:0001763	Pes planus
OMIM:182212	FBN1	2200	HP:0002104	Apnea
OMIM:182212	FBN1	2200	HP:0000252	Microcephaly
OMIM:182212	FBN1	2200	HP:0000768	Pectus carinatum
OMIM:182212	FBN1	2200	HP:0003083	Dislocated radial head
OMIM:182212	FBN1	2200	HP:0000545	Myopia
OMIM:182212	FBN1	2200	HP:0000218	High palate
OMIM:182212	FBN1	2200	HP:0000463	Anteverted nares
OMIM:182212	FBN1	2200	HP:0000316	Hypertelorism
OMIM:182212	FBN1	2200	HP:0000405	Conductive hearing impairment
OMIM:182212	FBN1	2200	HP:0001762	Talipes equinovarus
OMIM:182212	FBN1	2200	HP:0002308	Arnold-Chiari malformation
OMIM:182212	FBN1	2200	HP:0001634	Mitral valve prolapse
OMIM:182212	FBN1	2200	HP:0000767	Pectus excavatum
OMIM:182212	FBN1	2200	HP:0004349	Reduced bone mineral density
OMIM:182212	FBN1	2200	HP:0003042	Elbow dislocation
OMIM:182212	FBN1	2200	HP:0001376	Limitation of joint mobility
OMIM:182212	FBN1	2200	HP:0009473	Joint contracture of the hand
OMIM:182212	FBN1	2200	HP:0001382	Joint hypermobility
OMIM:182212	FBN1	2200	HP:0000347	Micrognathia
OMIM:182212	FBN1	2200	HP:0000327	Hypoplasia of the maxilla
OMIM:182212	FBN1	2200	HP:0000006	Autosomal dominant inheritance
OMIM:182212	FBN1	2200	HP:0001249	Intellectual disability
OMIM:182212	FBN1	2200	HP:0000028	Cryptorchidism
OMIM:182212	FBN1	2200	HP:0002650	Scoliosis
OMIM:182212	FBN1	2200	HP:0002857	Genu valgum
OMIM:182212	FBN1	2200	HP:0001263	Global developmental delay
OMIM:182212	FBN1	2200	HP:0000189	Narrow palate
OMIM:182212	FBN1	2200	HP:0003312	Abnormal form of the vertebral bodies
OMIM:182212	FBN1	2200	HP:0002119	Ventriculomegaly
OMIM:182212	FBN1	2200	HP:0000023	Inguinal hernia
OMIM:182212	FBN1	2200	HP:0008872	Feeding difficulties in infancy
OMIM:182212	FBN1	2200	HP:0001252	Muscular hypotonia
OMIM:182212	FBN1	2200	HP:0002007	Frontal bossing
OMIM:182212	FBN1	2200	HP:0100490	Camptodactyly of finger
OMIM:182212	FBN1	2200	HP:0100543	Cognitive impairment
OMIM:182212	FBN1	2200	HP:0001883	Talipes
OMIM:182212	FBN1	2200	HP:0007099	Arnold-Chiari type I malformation
OMIM:182212	FBN1	2200	HP:0000689	Dental malocclusion
OMIM:182212	FBN1	2200	HP:0000944	Abnormality of the metaphyses
OMIM:182212	FBN1	2200	HP:0001646	Abnormality of the aortic valve
OMIM:182212	FBN1	2200	HP:0000377	Abnormality of the pinna
OMIM:182212	FBN1	2200	HP:0000938	Osteopenia
OMIM:182212	FBN1	2200	HP:0000772	Abnormality of the ribs
OMIM:182212	FBN1	2200	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
OMIM:182212	FBN1	2200	HP:0000520	Proptosis
OMIM:182212	FBN1	2200	HP:0001633	Abnormality of the mitral valve
OMIM:182212	FBN1	2200	HP:0000774	Narrow chest
OMIM:182212	FBN1	2200	HP:0000238	Hydrocephalus
OMIM:182212	FBN1	2200	HP:0002020	Gastroesophageal reflux
OMIM:182212	FBN1	2200	HP:0002816	Genu recurvatum
OMIM:173470	ITGB3	3690	HP:0000978	Bruising susceptibility
OMIM:173470	ITGB3	3690	HP:0001928	Abnormality of coagulation
OMIM:173470	ITGB3	3690	HP:0002239	Gastrointestinal hemorrhage
OMIM:173470	ITGB3	3690	HP:0000421	Epistaxis
OMIM:173470	ITGB3	3690	HP:0002170	Intracranial hemorrhage
OMIM:173470	ITGB3	3690	HP:0000007	Autosomal recessive inheritance
OMIM:173470	ITGB3	3690	HP:0000979	Purpura
OMIM:173470	ITGB3	3690	HP:0000225	Gingival bleeding
OMIM:173470	ITGB3	3690	HP:0003540	Impaired platelet aggregation
OMIM:116100	CRYAA	1409	HP:0010922	Membranous cataract
OMIM:116100	CRYAA	1409	HP:0000006	Autosomal dominant inheritance
OMIM:116100	EPHA2	1969	HP:0010922	Membranous cataract
OMIM:116100	EPHA2	1969	HP:0000006	Autosomal dominant inheritance
OMIM:116100	CRYGS	1427	HP:0010922	Membranous cataract
OMIM:116100	CRYGS	1427	HP:0000006	Autosomal dominant inheritance
OMIM:116100	CRYBA2	1412	HP:0010922	Membranous cataract
OMIM:116100	CRYBA2	1412	HP:0000006	Autosomal dominant inheritance
OMIM:116100	AGK	55750	HP:0010922	Membranous cataract
OMIM:116100	AGK	55750	HP:0000006	Autosomal dominant inheritance
OMIM:116100	CRYBB2	1415	HP:0010922	Membranous cataract
OMIM:116100	CRYBB2	1415	HP:0000006	Autosomal dominant inheritance
OMIM:116100	NHS	4810	HP:0010922	Membranous cataract
OMIM:116100	NHS	4810	HP:0000006	Autosomal dominant inheritance
OMIM:116100	CRYGB	1419	HP:0010922	Membranous cataract
OMIM:116100	CRYGB	1419	HP:0000006	Autosomal dominant inheritance
OMIM:116100	GCNT2	2651	HP:0010922	Membranous cataract
OMIM:116100	GCNT2	2651	HP:0000006	Autosomal dominant inheritance
OMIM:116100	MIP	4284	HP:0010922	Membranous cataract
OMIM:116100	MIP	4284	HP:0000006	Autosomal dominant inheritance
OMIM:116100	LSS	4047	HP:0010922	Membranous cataract
OMIM:116100	LSS	4047	HP:0000006	Autosomal dominant inheritance
OMIM:305435	HBB	3043	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:305435	HBB	3043	HP:0001417	X-linked inheritance
OMIM:305435	KLF1	10661	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:305435	KLF1	10661	HP:0001417	X-linked inheritance
OMIM:305435	BCL11A	53335	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:305435	BCL11A	53335	HP:0001417	X-linked inheritance
OMIM:305435	HBG1	3047	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:305435	HBG1	3047	HP:0001417	X-linked inheritance
OMIM:305435	HBG2	3048	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:305435	HBG2	3048	HP:0001417	X-linked inheritance
OMIM:275900	SPG20	23111	HP:0011448	Ankle clonus
OMIM:275900	SPG20	23111	HP:0000316	Hypertelorism
OMIM:275900	SPG20	23111	HP:0002064	Spastic gait
OMIM:275900	SPG20	23111	HP:0030084	Clinodactyly
OMIM:275900	SPG20	23111	HP:0001270	Motor delay
OMIM:275900	SPG20	23111	HP:0001773	Short foot
OMIM:275900	SPG20	23111	HP:0000712	Emotional lability
OMIM:275900	SPG20	23111	HP:0007340	Lower limb muscle weakness
OMIM:275900	SPG20	23111	HP:0011463	Childhood onset
OMIM:275900	SPG20	23111	HP:0001347	Hyperreflexia
OMIM:275900	SPG20	23111	HP:0004322	Short stature
OMIM:275900	SPG20	23111	HP:0006986	Upper limb spasticity
OMIM:275900	SPG20	23111	HP:0002355	Difficulty walking
OMIM:275900	SPG20	23111	HP:0012385	Camptodactyly
OMIM:275900	SPG20	23111	HP:0002313	Spastic paraparesis
OMIM:275900	SPG20	23111	HP:0002751	Kyphoscoliosis
OMIM:275900	SPG20	23111	HP:0011449	Knee clonus
OMIM:275900	SPG20	23111	HP:0001310	Dysmetria
OMIM:275900	SPG20	23111	HP:0001156	Brachydactyly syndrome
OMIM:275900	SPG20	23111	HP:0003487	Babinski sign
OMIM:275900	SPG20	23111	HP:0001263	Global developmental delay
OMIM:275900	SPG20	23111	HP:0000007	Autosomal recessive inheritance
OMIM:275900	SPG20	23111	HP:0001258	Spastic paraplegia
OMIM:275900	SPG20	23111	HP:0001765	Hammertoe
OMIM:275900	SPG20	23111	HP:0001260	Dysarthria
OMIM:275900	SPG20	23111	HP:0001272	Cerebellar atrophy
OMIM:275900	SPG20	23111	HP:0003693	Distal amyotrophy
OMIM:275900	SPG20	23111	HP:0001256	Intellectual disability, mild
OMIM:275900	SPG20	23111	HP:0001761	Pes cavus
OMIM:275900	SPG20	23111	HP:0002307	Drooling
OMIM:520000	TRNK	4566	HP:0003326	Myalgia
OMIM:520000	TRNK	4566	HP:0000597	Ophthalmoparesis
OMIM:520000	TRNK	4566	HP:0001639	Hypertrophic cardiomyopathy
OMIM:520000	TRNK	4566	HP:0001250	Seizures
OMIM:520000	TRNK	4566	HP:0003119	Abnormality of lipid metabolism
OMIM:520000	TRNK	4566	HP:0003074	Hyperglycemia
OMIM:520000	TRNK	4566	HP:0000518	Cataract
OMIM:520000	TRNK	4566	HP:0000532	Chorioretinal abnormality
OMIM:520000	TRNK	4566	HP:0001133	Constriction of peripheral visual field
OMIM:520000	TRNK	4566	HP:0000544	External ophthalmoplegia
OMIM:520000	TRNK	4566	HP:0000488	Retinopathy
OMIM:520000	TRNK	4566	HP:0001260	Dysarthria
OMIM:520000	TRNK	4566	HP:0000093	Proteinuria
OMIM:520000	TRNK	4566	HP:0000822	Hypertension
OMIM:520000	TRNK	4566	HP:0002019	Constipation
OMIM:520000	TRNK	4566	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:520000	TRNK	4566	HP:0001324	Muscle weakness
OMIM:520000	TRNK	4566	HP:0000083	Renal insufficiency
OMIM:520000	TRNK	4566	HP:0000546	Retinal degeneration
OMIM:520000	TRNK	4566	HP:0011675	Arrhythmia
OMIM:520000	TRNK	4566	HP:0001635	Congestive heart failure
OMIM:520000	TRNK	4566	HP:0002311	Incoordination
OMIM:520000	TRNK	4566	HP:0000407	Sensorineural hearing impairment
OMIM:520000	TRNK	4566	HP:0001146	Pigmentary retinal degeneration
OMIM:520000	TRNK	4566	HP:0002317	Unsteady gait
OMIM:520000	TRNK	4566	HP:0000508	Ptosis
OMIM:520000	TRNK	4566	HP:0002321	Vertigo
OMIM:520000	TRNK	4566	HP:0000819	Diabetes mellitus
OMIM:520000	TRNK	4566	HP:0000505	Visual impairment
OMIM:520000	TRNK	4566	HP:0001427	Mitochondrial inheritance
OMIM:520000	TRNK	4566	HP:0002024	Malabsorption
OMIM:520000	TRNK	4566	HP:0001103	Abnormality of the macula
OMIM:520000	TRNK	4566	HP:0005978	Type II diabetes mellitus
OMIM:520000	TRNL1	4567	HP:0003326	Myalgia
OMIM:520000	TRNL1	4567	HP:0000597	Ophthalmoparesis
OMIM:520000	TRNL1	4567	HP:0001639	Hypertrophic cardiomyopathy
OMIM:520000	TRNL1	4567	HP:0001250	Seizures
OMIM:520000	TRNL1	4567	HP:0003119	Abnormality of lipid metabolism
OMIM:520000	TRNL1	4567	HP:0003074	Hyperglycemia
OMIM:520000	TRNL1	4567	HP:0000518	Cataract
OMIM:520000	TRNL1	4567	HP:0000532	Chorioretinal abnormality
OMIM:520000	TRNL1	4567	HP:0001133	Constriction of peripheral visual field
OMIM:520000	TRNL1	4567	HP:0000544	External ophthalmoplegia
OMIM:520000	TRNL1	4567	HP:0000488	Retinopathy
OMIM:520000	TRNL1	4567	HP:0001260	Dysarthria
OMIM:520000	TRNL1	4567	HP:0000093	Proteinuria
OMIM:520000	TRNL1	4567	HP:0000822	Hypertension
OMIM:520000	TRNL1	4567	HP:0002019	Constipation
OMIM:520000	TRNL1	4567	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:520000	TRNL1	4567	HP:0001324	Muscle weakness
OMIM:520000	TRNL1	4567	HP:0000083	Renal insufficiency
OMIM:520000	TRNL1	4567	HP:0000546	Retinal degeneration
OMIM:520000	TRNL1	4567	HP:0011675	Arrhythmia
OMIM:520000	TRNL1	4567	HP:0001635	Congestive heart failure
OMIM:520000	TRNL1	4567	HP:0002311	Incoordination
OMIM:520000	TRNL1	4567	HP:0000407	Sensorineural hearing impairment
OMIM:520000	TRNL1	4567	HP:0001146	Pigmentary retinal degeneration
OMIM:520000	TRNL1	4567	HP:0002317	Unsteady gait
OMIM:520000	TRNL1	4567	HP:0000508	Ptosis
OMIM:520000	TRNL1	4567	HP:0002321	Vertigo
OMIM:520000	TRNL1	4567	HP:0000819	Diabetes mellitus
OMIM:520000	TRNL1	4567	HP:0000505	Visual impairment
OMIM:520000	TRNL1	4567	HP:0001427	Mitochondrial inheritance
OMIM:520000	TRNL1	4567	HP:0002024	Malabsorption
OMIM:520000	TRNL1	4567	HP:0001103	Abnormality of the macula
OMIM:520000	TRNL1	4567	HP:0005978	Type II diabetes mellitus
OMIM:520000	TRNE	4556	HP:0003326	Myalgia
OMIM:520000	TRNE	4556	HP:0000597	Ophthalmoparesis
OMIM:520000	TRNE	4556	HP:0001639	Hypertrophic cardiomyopathy
OMIM:520000	TRNE	4556	HP:0001250	Seizures
OMIM:520000	TRNE	4556	HP:0003119	Abnormality of lipid metabolism
OMIM:520000	TRNE	4556	HP:0003074	Hyperglycemia
OMIM:520000	TRNE	4556	HP:0000518	Cataract
OMIM:520000	TRNE	4556	HP:0000532	Chorioretinal abnormality
OMIM:520000	TRNE	4556	HP:0001133	Constriction of peripheral visual field
OMIM:520000	TRNE	4556	HP:0000544	External ophthalmoplegia
OMIM:520000	TRNE	4556	HP:0000488	Retinopathy
OMIM:520000	TRNE	4556	HP:0001260	Dysarthria
OMIM:520000	TRNE	4556	HP:0000093	Proteinuria
OMIM:520000	TRNE	4556	HP:0000822	Hypertension
OMIM:520000	TRNE	4556	HP:0002019	Constipation
OMIM:520000	TRNE	4556	HP:0007360	Aplasia/Hypoplasia of the cerebellum
OMIM:520000	TRNE	4556	HP:0001324	Muscle weakness
OMIM:520000	TRNE	4556	HP:0000083	Renal insufficiency
OMIM:520000	TRNE	4556	HP:0000546	Retinal degeneration
OMIM:520000	TRNE	4556	HP:0011675	Arrhythmia
OMIM:520000	TRNE	4556	HP:0001635	Congestive heart failure
OMIM:520000	TRNE	4556	HP:0002311	Incoordination
OMIM:520000	TRNE	4556	HP:0000407	Sensorineural hearing impairment
OMIM:520000	TRNE	4556	HP:0001146	Pigmentary retinal degeneration
OMIM:520000	TRNE	4556	HP:0002317	Unsteady gait
OMIM:520000	TRNE	4556	HP:0000508	Ptosis
OMIM:520000	TRNE	4556	HP:0002321	Vertigo
OMIM:520000	TRNE	4556	HP:0000819	Diabetes mellitus
OMIM:520000	TRNE	4556	HP:0000505	Visual impairment
OMIM:520000	TRNE	4556	HP:0001427	Mitochondrial inheritance
OMIM:520000	TRNE	4556	HP:0002024	Malabsorption
OMIM:520000	TRNE	4556	HP:0001103	Abnormality of the macula
OMIM:520000	TRNE	4556	HP:0005978	Type II diabetes mellitus
ORPHANET:88637	POLR3B	55703	HP:0002311	Incoordination
ORPHANET:88637	POLR3B	55703	HP:0000078	Abnormality of the genital system
ORPHANET:88637	POLR3B	55703	HP:0000164	Abnormality of the teeth
ORPHANET:88637	POLR3A	11128	HP:0002311	Incoordination
ORPHANET:88637	POLR3A	11128	HP:0000078	Abnormality of the genital system
ORPHANET:88637	POLR3A	11128	HP:0000164	Abnormality of the teeth
ORPHANET:88637	POLR1C	9533	HP:0002311	Incoordination
ORPHANET:88637	POLR1C	9533	HP:0000078	Abnormality of the genital system
ORPHANET:88637	POLR1C	9533	HP:0000164	Abnormality of the teeth
OMIM:215400	T	6862	HP:0000234	Abnormality of the head
OMIM:215400	T	6862	HP:0000925	Abnormality of the vertebral column
OMIM:215400	T	6862	HP:0000006	Autosomal dominant inheritance
OMIM:118220	PMP22	5376	HP:0002751	Kyphoscoliosis
OMIM:118220	PMP22	5376	HP:0003677	Slow progression
OMIM:118220	PMP22	5376	HP:0001761	Pes cavus
OMIM:118220	PMP22	5376	HP:0000006	Autosomal dominant inheritance
OMIM:118220	PMP22	5376	HP:0003828	Variable expressivity
OMIM:118220	PMP22	5376	HP:0001425	Heterogeneous
OMIM:118220	PMP22	5376	HP:0002936	Distal sensory impairment
OMIM:118220	PMP22	5376	HP:0003376	Steppage gait
OMIM:118220	PMP22	5376	HP:0001765	Hammertoe
OMIM:118220	PMP22	5376	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:118220	PMP22	5376	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:118220	PMP22	5376	HP:0009027	Foot dorsiflexor weakness
OMIM:118220	PMP22	5376	HP:0003693	Distal amyotrophy
OMIM:118220	PMP22	5376	HP:0003621	Juvenile onset
OMIM:118220	PMP22	5376	HP:0003431	Decreased motor nerve conduction velocity
OMIM:118220	PMP22	5376	HP:0001178	Ulnar claw
OMIM:118220	PMP22	5376	HP:0003383	Onion bulb formation
OMIM:118220	PMP22	5376	HP:0001284	Areflexia
OMIM:118220	PMP22	5376	HP:0001265	Hyporeflexia
OMIM:118220	PMP22	5376	HP:0000365	Hearing impairment
OMIM:118220	PMP22	5376	HP:0002460	Distal muscle weakness
OMIM:609454	MAPT	4137	HP:0002063	Rigidity
OMIM:609454	MAPT	4137	HP:0002527	Falls
OMIM:609454	MAPT	4137	HP:0000737	Irritability
OMIM:609454	MAPT	4137	HP:0000006	Autosomal dominant inheritance
OMIM:609454	MAPT	4137	HP:0002015	Dysphagia
OMIM:609454	MAPT	4137	HP:0002529	Neuronal loss in central nervous system
OMIM:609454	MAPT	4137	HP:0002067	Bradykinesia
OMIM:609454	MAPT	4137	HP:0001260	Dysarthria
OMIM:609454	MAPT	4137	HP:0000613	Photophobia
OMIM:609454	MAPT	4137	HP:0000741	Apathy
OMIM:609454	MAPT	4137	HP:0000622	Blurred vision
OMIM:609454	MAPT	4137	HP:0002141	Gait imbalance
OMIM:609454	MAPT	4137	HP:0002354	Memory impairment
OMIM:609454	MAPT	4137	HP:0002171	Gliosis
OMIM:609454	MAPT	4137	HP:0001300	Parkinsonism
OMIM:606824	SLC5A1	6523	HP:0001508	Failure to thrive
OMIM:606824	SLC5A1	6523	HP:0002028	Chronic diarrhea
OMIM:606824	SLC5A1	6523	HP:0000007	Autosomal recessive inheritance
OMIM:606824	SLC5A1	6523	HP:0003270	Abdominal distention
OMIM:606824	SLC5A1	6523	HP:0001942	Metabolic acidosis
OMIM:226650	LAMA3	3909	HP:0000668	Hypodontia
OMIM:226650	LAMA3	3909	HP:0200042	Skin ulcer
OMIM:226650	LAMA3	3909	HP:0000670	Carious teeth
OMIM:226650	LAMA3	3909	HP:0000164	Abnormality of the teeth
OMIM:226650	LAMA3	3909	HP:0100490	Camptodactyly of finger
OMIM:226650	LAMA3	3909	HP:0001798	Anonychia
OMIM:226650	LAMA3	3909	HP:0002164	Nail dysplasia
OMIM:226650	LAMA3	3909	HP:0000007	Autosomal recessive inheritance
OMIM:226650	LAMA3	3909	HP:0001000	Abnormality of skin pigmentation
OMIM:226650	LAMA3	3909	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:226650	LAMA3	3909	HP:0010624	Aplastic/hypoplastic toenail
OMIM:226650	LAMA3	3909	HP:0000795	Abnormality of the urethra
OMIM:226650	LAMA3	3909	HP:0001231	Abnormality of the fingernails
OMIM:226650	LAMA3	3909	HP:0002021	Pyloric stenosis
OMIM:226650	LAMA3	3909	HP:0012211	Abnormal renal physiology
OMIM:226650	LAMA3	3909	HP:0001425	Heterogeneous
OMIM:226650	LAMB3	3914	HP:0000668	Hypodontia
OMIM:226650	LAMB3	3914	HP:0200042	Skin ulcer
OMIM:226650	LAMB3	3914	HP:0000670	Carious teeth
OMIM:226650	LAMB3	3914	HP:0000164	Abnormality of the teeth
OMIM:226650	LAMB3	3914	HP:0100490	Camptodactyly of finger
OMIM:226650	LAMB3	3914	HP:0001798	Anonychia
OMIM:226650	LAMB3	3914	HP:0002164	Nail dysplasia
OMIM:226650	LAMB3	3914	HP:0000007	Autosomal recessive inheritance
OMIM:226650	LAMB3	3914	HP:0001000	Abnormality of skin pigmentation
OMIM:226650	LAMB3	3914	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:226650	LAMB3	3914	HP:0010624	Aplastic/hypoplastic toenail
OMIM:226650	LAMB3	3914	HP:0000795	Abnormality of the urethra
OMIM:226650	LAMB3	3914	HP:0001231	Abnormality of the fingernails
OMIM:226650	LAMB3	3914	HP:0002021	Pyloric stenosis
OMIM:226650	LAMB3	3914	HP:0012211	Abnormal renal physiology
OMIM:226650	LAMB3	3914	HP:0001425	Heterogeneous
OMIM:226650	ITGB4	3691	HP:0000668	Hypodontia
OMIM:226650	ITGB4	3691	HP:0200042	Skin ulcer
OMIM:226650	ITGB4	3691	HP:0000670	Carious teeth
OMIM:226650	ITGB4	3691	HP:0000164	Abnormality of the teeth
OMIM:226650	ITGB4	3691	HP:0100490	Camptodactyly of finger
OMIM:226650	ITGB4	3691	HP:0001798	Anonychia
OMIM:226650	ITGB4	3691	HP:0002164	Nail dysplasia
OMIM:226650	ITGB4	3691	HP:0000007	Autosomal recessive inheritance
OMIM:226650	ITGB4	3691	HP:0001000	Abnormality of skin pigmentation
OMIM:226650	ITGB4	3691	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:226650	ITGB4	3691	HP:0010624	Aplastic/hypoplastic toenail
OMIM:226650	ITGB4	3691	HP:0000795	Abnormality of the urethra
OMIM:226650	ITGB4	3691	HP:0001231	Abnormality of the fingernails
OMIM:226650	ITGB4	3691	HP:0002021	Pyloric stenosis
OMIM:226650	ITGB4	3691	HP:0012211	Abnormal renal physiology
OMIM:226650	ITGB4	3691	HP:0001425	Heterogeneous
OMIM:226650	COL17A1	1308	HP:0000668	Hypodontia
OMIM:226650	COL17A1	1308	HP:0200042	Skin ulcer
OMIM:226650	COL17A1	1308	HP:0000670	Carious teeth
OMIM:226650	COL17A1	1308	HP:0000164	Abnormality of the teeth
OMIM:226650	COL17A1	1308	HP:0100490	Camptodactyly of finger
OMIM:226650	COL17A1	1308	HP:0001798	Anonychia
OMIM:226650	COL17A1	1308	HP:0002164	Nail dysplasia
OMIM:226650	COL17A1	1308	HP:0000007	Autosomal recessive inheritance
OMIM:226650	COL17A1	1308	HP:0001000	Abnormality of skin pigmentation
OMIM:226650	COL17A1	1308	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:226650	COL17A1	1308	HP:0010624	Aplastic/hypoplastic toenail
OMIM:226650	COL17A1	1308	HP:0000795	Abnormality of the urethra
OMIM:226650	COL17A1	1308	HP:0001231	Abnormality of the fingernails
OMIM:226650	COL17A1	1308	HP:0002021	Pyloric stenosis
OMIM:226650	COL17A1	1308	HP:0012211	Abnormal renal physiology
OMIM:226650	COL17A1	1308	HP:0001425	Heterogeneous
OMIM:226650	LAMC2	3918	HP:0000668	Hypodontia
OMIM:226650	LAMC2	3918	HP:0200042	Skin ulcer
OMIM:226650	LAMC2	3918	HP:0000670	Carious teeth
OMIM:226650	LAMC2	3918	HP:0000164	Abnormality of the teeth
OMIM:226650	LAMC2	3918	HP:0100490	Camptodactyly of finger
OMIM:226650	LAMC2	3918	HP:0001798	Anonychia
OMIM:226650	LAMC2	3918	HP:0002164	Nail dysplasia
OMIM:226650	LAMC2	3918	HP:0000007	Autosomal recessive inheritance
OMIM:226650	LAMC2	3918	HP:0001000	Abnormality of skin pigmentation
OMIM:226650	LAMC2	3918	HP:0008065	Aplasia/Hypoplasia of the skin
OMIM:226650	LAMC2	3918	HP:0010624	Aplastic/hypoplastic toenail
OMIM:226650	LAMC2	3918	HP:0000795	Abnormality of the urethra
OMIM:226650	LAMC2	3918	HP:0001231	Abnormality of the fingernails
OMIM:226650	LAMC2	3918	HP:0002021	Pyloric stenosis
OMIM:226650	LAMC2	3918	HP:0012211	Abnormal renal physiology
OMIM:226650	LAMC2	3918	HP:0001425	Heterogeneous
OMIM:234580	PEX1	5189	HP:0000007	Autosomal recessive inheritance
OMIM:234580	PEX1	5189	HP:0006297	Hypoplasia of dental enamel
OMIM:234580	PEX1	5189	HP:0000407	Sensorineural hearing impairment
OMIM:234580	PEX6	5190	HP:0000007	Autosomal recessive inheritance
OMIM:234580	PEX6	5190	HP:0006297	Hypoplasia of dental enamel
OMIM:234580	PEX6	5190	HP:0000407	Sensorineural hearing impairment
OMIM:103050	ADSL	158	HP:0000154	Wide mouth
OMIM:103050	ADSL	158	HP:0000219	Thin upper lip vermilion
OMIM:103050	ADSL	158	HP:0000319	Smooth philtrum
OMIM:103050	ADSL	158	HP:0003593	Infantile onset
OMIM:103050	ADSL	158	HP:0001252	Muscular hypotonia
OMIM:103050	ADSL	158	HP:0002179	Opisthotonus
OMIM:103050	ADSL	158	HP:0000007	Autosomal recessive inheritance
OMIM:103050	ADSL	158	HP:0000486	Strabismus
OMIM:103050	ADSL	158	HP:0000717	Autism
OMIM:103050	ADSL	158	HP:0000742	Self-mutilation
OMIM:103050	ADSL	158	HP:0001249	Intellectual disability
OMIM:103050	ADSL	158	HP:0003196	Short nose
OMIM:103050	ADSL	158	HP:0000369	Low-set ears
OMIM:103050	ADSL	158	HP:0003202	Skeletal muscle atrophy
OMIM:103050	ADSL	158	HP:0001348	Brisk reflexes
OMIM:103050	ADSL	158	HP:0006808	Cerebral hypomyelination
OMIM:103050	ADSL	158	HP:0003429	CNS hypomyelination
OMIM:103050	ADSL	158	HP:0000750	Delayed speech and language development
OMIM:103050	ADSL	158	HP:0000252	Microcephaly
OMIM:103050	ADSL	158	HP:0000343	Long philtrum
OMIM:103050	ADSL	158	HP:0001250	Seizures
OMIM:103050	ADSL	158	HP:0002066	Gait ataxia
OMIM:103050	ADSL	158	HP:0000463	Anteverted nares
OMIM:103050	ADSL	158	HP:0001263	Global developmental delay
OMIM:103050	ADSL	158	HP:0000752	Hyperactivity
OMIM:103050	ADSL	158	HP:0002059	Cerebral atrophy
OMIM:103050	ADSL	158	HP:0001336	Myoclonus
OMIM:103050	ADSL	158	HP:0000639	Nystagmus
OMIM:103050	ADSL	158	HP:0002540	Inability to walk
OMIM:103050	ADSL	158	HP:0000718	Aggressive behavior
OMIM:103050	ADSL	158	HP:0000248	Brachycephaly
OMIM:103050	ADSL	158	HP:0001510	Growth delay
OMIM:103050	ADSL	158	HP:0011344	Severe global developmental delay
OMIM:103050	ADSL	158	HP:0001272	Cerebellar atrophy
OMIM:262850	SERPINF2	5345	HP:0000978	Bruising susceptibility
OMIM:262850	SERPINF2	5345	HP:0000007	Autosomal recessive inheritance
OMIM:271980	ALDH5A1	7915	HP:0001250	Seizures
OMIM:271980	ALDH5A1	7915	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:271980	ALDH5A1	7915	HP:0000718	Aggressive behavior
OMIM:271980	ALDH5A1	7915	HP:0002121	Absence seizures
OMIM:271980	ALDH5A1	7915	HP:0000007	Autosomal recessive inheritance
OMIM:271980	ALDH5A1	7915	HP:0000738	Hallucinations
OMIM:271980	ALDH5A1	7915	HP:0001249	Intellectual disability
OMIM:271980	ALDH5A1	7915	HP:0000496	Abnormality of eye movement
OMIM:271980	ALDH5A1	7915	HP:0002133	Status epilepticus
OMIM:271980	ALDH5A1	7915	HP:0100716	Self-injurious behavior
OMIM:271980	ALDH5A1	7915	HP:0001251	Ataxia
OMIM:271980	ALDH5A1	7915	HP:0000750	Delayed speech and language development
OMIM:271980	ALDH5A1	7915	HP:0001263	Global developmental delay
OMIM:271980	ALDH5A1	7915	HP:0003593	Infantile onset
OMIM:271980	ALDH5A1	7915	HP:0001252	Muscular hypotonia
OMIM:271980	ALDH5A1	7915	HP:0000709	Psychosis
OMIM:271980	ALDH5A1	7915	HP:0003812	Phenotypic variability
OMIM:271980	ALDH5A1	7915	HP:0000752	Hyperactivity
OMIM:271980	ALDH5A1	7915	HP:0001265	Hyporeflexia
OMIM:271980	ALDH5A1	7915	HP:0002311	Incoordination
OMIM:271980	ALDH5A1	7915	HP:0000739	Anxiety
OMIM:271980	ALDH5A1	7915	HP:0002353	EEG abnormality
OMIM:271980	ALDH5A1	7915	HP:0002069	Generalized tonic-clonic seizures
OMIM:271980	ALDH5A1	7915	HP:0000717	Autism
OMIM:271980	ALDH5A1	7915	HP:0100543	Cognitive impairment
OMIM:271980	ALDH5A1	7915	HP:0001270	Motor delay
OMIM:271980	ALDH5A1	7915	HP:0002123	Generalized myoclonic seizures
OMIM:615954	ARMC5	79798	HP:0003074	Hyperglycemia
OMIM:615954	ARMC5	79798	HP:0000311	Round face
OMIM:615954	ARMC5	79798	HP:0000939	Osteoporosis
OMIM:615954	ARMC5	79798	HP:0008231	Macronodular adrenal hyperplasia
OMIM:300814	GPR143	4935	HP:0000646	Amblyopia
OMIM:300814	GPR143	4935	HP:0001417	X-linked inheritance
OMIM:613227	ATP8A2	51761	HP:0001337	Tremor
OMIM:613227	ATP8A2	51761	HP:0000486	Strabismus
OMIM:613227	ATP8A2	51761	HP:0001256	Intellectual disability, mild
OMIM:613227	ATP8A2	51761	HP:0001260	Dysarthria
OMIM:613227	ATP8A2	51761	HP:0001251	Ataxia
OMIM:613227	ATP8A2	51761	HP:0000007	Autosomal recessive inheritance
OMIM:613227	ATP8A2	51761	HP:0003577	Congenital onset
OMIM:613227	WDR81	124997	HP:0001337	Tremor
OMIM:613227	WDR81	124997	HP:0000486	Strabismus
OMIM:613227	WDR81	124997	HP:0001256	Intellectual disability, mild
OMIM:613227	WDR81	124997	HP:0001260	Dysarthria
OMIM:613227	WDR81	124997	HP:0001251	Ataxia
OMIM:613227	WDR81	124997	HP:0000007	Autosomal recessive inheritance
OMIM:613227	WDR81	124997	HP:0003577	Congenital onset
OMIM:613227	VLDLR	7436	HP:0001337	Tremor
OMIM:613227	VLDLR	7436	HP:0000486	Strabismus
OMIM:613227	VLDLR	7436	HP:0001256	Intellectual disability, mild
OMIM:613227	VLDLR	7436	HP:0001260	Dysarthria
OMIM:613227	VLDLR	7436	HP:0001251	Ataxia
OMIM:613227	VLDLR	7436	HP:0000007	Autosomal recessive inheritance
OMIM:613227	VLDLR	7436	HP:0003577	Congenital onset
OMIM:613227	CA8	767	HP:0001337	Tremor
OMIM:613227	CA8	767	HP:0000486	Strabismus
OMIM:613227	CA8	767	HP:0001256	Intellectual disability, mild
OMIM:613227	CA8	767	HP:0001260	Dysarthria
OMIM:613227	CA8	767	HP:0001251	Ataxia
OMIM:613227	CA8	767	HP:0000007	Autosomal recessive inheritance
OMIM:613227	CA8	767	HP:0003577	Congenital onset
OMIM:218030	HSD11B2	3291	HP:0004322	Short stature
OMIM:218030	HSD11B2	3291	HP:0001508	Failure to thrive
OMIM:218030	HSD11B2	3291	HP:0000007	Autosomal recessive inheritance
OMIM:218030	HSD11B2	3291	HP:0000822	Hypertension
OMIM:218030	HSD11B2	3291	HP:0001518	Small for gestational age
OMIM:218030	HSD11B2	3291	HP:0003828	Variable expressivity
OMIM:614063	NAT8L	339983	HP:0001263	Global developmental delay
OMIM:614063	NAT8L	339983	HP:0002078	Truncal ataxia
OMIM:614063	NAT8L	339983	HP:0000252	Microcephaly
OMIM:614063	NAT8L	339983	HP:0001250	Seizures
OMIM:614063	NAT8L	339983	HP:0000007	Autosomal recessive inheritance
OMIM:614557	FKBP14	55033	HP:0003812	Phenotypic variability
OMIM:614557	FKBP14	55033	HP:0000015	Bladder diverticulum
OMIM:614557	FKBP14	55033	HP:0000974	Hyperextensible skin
OMIM:614557	FKBP14	55033	HP:0001270	Motor delay
OMIM:614557	FKBP14	55033	HP:0001537	Umbilical hernia
OMIM:614557	FKBP14	55033	HP:0002421	Poor head control
OMIM:614557	FKBP14	55033	HP:0001252	Muscular hypotonia
OMIM:614557	FKBP14	55033	HP:0003202	Skeletal muscle atrophy
OMIM:614557	FKBP14	55033	HP:0003198	Myopathy
OMIM:614557	FKBP14	55033	HP:0000023	Inguinal hernia
OMIM:614557	FKBP14	55033	HP:0007502	Follicular hyperkeratosis
OMIM:614557	FKBP14	55033	HP:0000978	Bruising susceptibility
OMIM:614557	FKBP14	55033	HP:0001643	Patent ductus arteriosus
OMIM:614557	FKBP14	55033	HP:0001762	Talipes equinovarus
OMIM:614557	FKBP14	55033	HP:0000977	Soft skin
OMIM:614557	FKBP14	55033	HP:0000545	Myopia
OMIM:614557	FKBP14	55033	HP:0000938	Osteopenia
OMIM:614557	FKBP14	55033	HP:0002751	Kyphoscoliosis
OMIM:614557	FKBP14	55033	HP:0001763	Pes planus
OMIM:614557	FKBP14	55033	HP:0000007	Autosomal recessive inheritance
OMIM:606392	CEL	1056	HP:0005978	Type II diabetes mellitus
OMIM:606392	CEL	1056	HP:0000006	Autosomal dominant inheritance
OMIM:606392	BLK	640	HP:0005978	Type II diabetes mellitus
OMIM:606392	BLK	640	HP:0000006	Autosomal dominant inheritance
OMIM:606392	PDX1	3651	HP:0005978	Type II diabetes mellitus
OMIM:606392	PDX1	3651	HP:0000006	Autosomal dominant inheritance
OMIM:606392	HNF4A	3172	HP:0005978	Type II diabetes mellitus
OMIM:606392	HNF4A	3172	HP:0000006	Autosomal dominant inheritance
OMIM:606392	APPL1	26060	HP:0005978	Type II diabetes mellitus
OMIM:606392	APPL1	26060	HP:0000006	Autosomal dominant inheritance
OMIM:606392	KLF11	8462	HP:0005978	Type II diabetes mellitus
OMIM:606392	KLF11	8462	HP:0000006	Autosomal dominant inheritance
OMIM:606392	INS	3630	HP:0005978	Type II diabetes mellitus
OMIM:606392	INS	3630	HP:0000006	Autosomal dominant inheritance
OMIM:606392	HNF1A	6927	HP:0005978	Type II diabetes mellitus
OMIM:606392	HNF1A	6927	HP:0000006	Autosomal dominant inheritance
OMIM:606392	ABCC8	6833	HP:0005978	Type II diabetes mellitus
OMIM:606392	ABCC8	6833	HP:0000006	Autosomal dominant inheritance
OMIM:606392	GCK	2645	HP:0005978	Type II diabetes mellitus
OMIM:606392	GCK	2645	HP:0000006	Autosomal dominant inheritance
OMIM:606392	PAX4	5078	HP:0005978	Type II diabetes mellitus
OMIM:606392	PAX4	5078	HP:0000006	Autosomal dominant inheritance
OMIM:606392	KCNJ11	3767	HP:0005978	Type II diabetes mellitus
OMIM:606392	KCNJ11	3767	HP:0000006	Autosomal dominant inheritance
OMIM:606392	NEUROD1	4760	HP:0005978	Type II diabetes mellitus
OMIM:606392	NEUROD1	4760	HP:0000006	Autosomal dominant inheritance
OMIM:615544	ERMARD	55780	HP:0002282	Heterotopia
OMIM:615544	ERMARD	55780	HP:0000006	Autosomal dominant inheritance
OMIM:615544	ERMARD	55780	HP:0001263	Global developmental delay
OMIM:615544	ERMARD	55780	HP:0000486	Strabismus
OMIM:615544	ERMARD	55780	HP:0000750	Delayed speech and language development
OMIM:615544	ERMARD	55780	HP:0001250	Seizures
OMIM:615544	ERMARD	55780	HP:0002521	Hypsarrhythmia
OMIM:615544	ARFGEF2	10564	HP:0002282	Heterotopia
OMIM:615544	ARFGEF2	10564	HP:0000006	Autosomal dominant inheritance
OMIM:615544	ARFGEF2	10564	HP:0001263	Global developmental delay
OMIM:615544	ARFGEF2	10564	HP:0000486	Strabismus
OMIM:615544	ARFGEF2	10564	HP:0000750	Delayed speech and language development
OMIM:615544	ARFGEF2	10564	HP:0001250	Seizures
OMIM:615544	ARFGEF2	10564	HP:0002521	Hypsarrhythmia
OMIM:615544	FLNA	2316	HP:0002282	Heterotopia
OMIM:615544	FLNA	2316	HP:0000006	Autosomal dominant inheritance
OMIM:615544	FLNA	2316	HP:0001263	Global developmental delay
OMIM:615544	FLNA	2316	HP:0000486	Strabismus
OMIM:615544	FLNA	2316	HP:0000750	Delayed speech and language development
OMIM:615544	FLNA	2316	HP:0001250	Seizures
OMIM:615544	FLNA	2316	HP:0002521	Hypsarrhythmia
OMIM:224120	C15ORF41	84529	HP:0006579	Prolonged neonatal jaundice
OMIM:224120	C15ORF41	84529	HP:0001744	Splenomegaly
OMIM:224120	C15ORF41	84529	HP:0000007	Autosomal recessive inheritance
OMIM:224120	C15ORF41	84529	HP:0001789	Hydrops fetalis
OMIM:224120	C15ORF41	84529	HP:0001923	Reticulocytosis
OMIM:224120	C15ORF41	84529	HP:0001159	Syndactyly
OMIM:224120	CDAN1	146059	HP:0006579	Prolonged neonatal jaundice
OMIM:224120	CDAN1	146059	HP:0001744	Splenomegaly
OMIM:224120	CDAN1	146059	HP:0000007	Autosomal recessive inheritance
OMIM:224120	CDAN1	146059	HP:0001789	Hydrops fetalis
OMIM:224120	CDAN1	146059	HP:0001923	Reticulocytosis
OMIM:224120	CDAN1	146059	HP:0001159	Syndactyly
OMIM:309530	ZNF711	7552	HP:0001419	X-linked recessive inheritance
OMIM:309530	ZNF711	7552	HP:0001249	Intellectual disability
OMIM:309530	IL1RAPL1	11141	HP:0001419	X-linked recessive inheritance
OMIM:309530	IL1RAPL1	11141	HP:0001249	Intellectual disability
OMIM:309530	ACSL4	2182	HP:0001419	X-linked recessive inheritance
OMIM:309530	ACSL4	2182	HP:0001249	Intellectual disability
OMIM:309530	PAK3	5063	HP:0001419	X-linked recessive inheritance
OMIM:309530	PAK3	5063	HP:0001249	Intellectual disability
OMIM:309530	SYP	6855	HP:0001419	X-linked recessive inheritance
OMIM:309530	SYP	6855	HP:0001249	Intellectual disability
OMIM:309530	FTSJ1	24140	HP:0001419	X-linked recessive inheritance
OMIM:309530	FTSJ1	24140	HP:0001249	Intellectual disability
OMIM:309530	DLG3	1741	HP:0001419	X-linked recessive inheritance
OMIM:309530	DLG3	1741	HP:0001249	Intellectual disability
OMIM:309530	PTCHD1	139411	HP:0001419	X-linked recessive inheritance
OMIM:309530	PTCHD1	139411	HP:0001249	Intellectual disability
OMIM:309530	UPF3B	65109	HP:0001419	X-linked recessive inheritance
OMIM:309530	UPF3B	65109	HP:0001249	Intellectual disability
OMIM:309530	ZNF81	347344	HP:0001419	X-linked recessive inheritance
OMIM:309530	ZNF81	347344	HP:0001249	Intellectual disability
OMIM:309530	RAB39B	116442	HP:0001419	X-linked recessive inheritance
OMIM:309530	RAB39B	116442	HP:0001249	Intellectual disability
OMIM:309530	DMD	1756	HP:0001419	X-linked recessive inheritance
OMIM:309530	DMD	1756	HP:0001249	Intellectual disability
OMIM:309530	MAGT1	84061	HP:0001419	X-linked recessive inheritance
OMIM:309530	MAGT1	84061	HP:0001249	Intellectual disability
OMIM:309530	MID2	11043	HP:0001419	X-linked recessive inheritance
OMIM:309530	MID2	11043	HP:0001249	Intellectual disability
OMIM:309530	GDI1	2664	HP:0001419	X-linked recessive inheritance
OMIM:309530	GDI1	2664	HP:0001249	Intellectual disability
OMIM:309530	ZNF41	7592	HP:0001419	X-linked recessive inheritance
OMIM:309530	ZNF41	7592	HP:0001249	Intellectual disability
OMIM:309530	MECP2	4204	HP:0001419	X-linked recessive inheritance
OMIM:309530	MECP2	4204	HP:0001249	Intellectual disability
OMIM:309530	HCFC1	3054	HP:0001419	X-linked recessive inheritance
OMIM:309530	HCFC1	3054	HP:0001249	Intellectual disability
OMIM:309530	USP9X	8239	HP:0001419	X-linked recessive inheritance
OMIM:309530	USP9X	8239	HP:0001249	Intellectual disability
OMIM:309530	MED12	9968	HP:0001419	X-linked recessive inheritance
OMIM:309530	MED12	9968	HP:0001249	Intellectual disability
OMIM:309530	ZNF674	641339	HP:0001419	X-linked recessive inheritance
OMIM:309530	ZNF674	641339	HP:0001249	Intellectual disability
OMIM:309530	ARHGEF6	9459	HP:0001419	X-linked recessive inheritance
OMIM:309530	ARHGEF6	9459	HP:0001249	Intellectual disability
OMIM:309530	RPS6KA3	6197	HP:0001419	X-linked recessive inheritance
OMIM:309530	RPS6KA3	6197	HP:0001249	Intellectual disability
OMIM:309530	IQSEC2	23096	HP:0001419	X-linked recessive inheritance
OMIM:309530	IQSEC2	23096	HP:0001249	Intellectual disability
OMIM:309530	AGTR2	186	HP:0001419	X-linked recessive inheritance
OMIM:309530	AGTR2	186	HP:0001249	Intellectual disability
OMIM:309530	ARX	170302	HP:0001419	X-linked recessive inheritance
OMIM:309530	ARX	170302	HP:0001249	Intellectual disability
OMIM:309530	ALG13	79868	HP:0001419	X-linked recessive inheritance
OMIM:309530	ALG13	79868	HP:0001249	Intellectual disability
OMIM:309530	TSPAN7	7102	HP:0001419	X-linked recessive inheritance
OMIM:309530	TSPAN7	7102	HP:0001249	Intellectual disability
OMIM:615067	DNAAF2	55172	HP:0100750	Atelectasis
OMIM:615067	DNAAF2	55172	HP:0006532	Recurrent pneumonia
OMIM:615067	DNAAF2	55172	HP:0011108	Recurrent sinusitis
OMIM:615067	DNAAF2	55172	HP:0002110	Bronchiectasis
OMIM:615067	DNAAF2	55172	HP:0001696	Situs inversus totalis
OMIM:615067	DNAAF2	55172	HP:0000007	Autosomal recessive inheritance
OMIM:615067	DNAAF2	55172	HP:0000403	Recurrent otitis media
OMIM:615067	CCNO	10309	HP:0100750	Atelectasis
OMIM:615067	CCNO	10309	HP:0006532	Recurrent pneumonia
OMIM:615067	CCNO	10309	HP:0011108	Recurrent sinusitis
OMIM:615067	CCNO	10309	HP:0002110	Bronchiectasis
OMIM:615067	CCNO	10309	HP:0001696	Situs inversus totalis
OMIM:615067	CCNO	10309	HP:0000007	Autosomal recessive inheritance
OMIM:615067	CCNO	10309	HP:0000403	Recurrent otitis media
OMIM:615067	DNAAF5	54919	HP:0100750	Atelectasis
OMIM:615067	DNAAF5	54919	HP:0006532	Recurrent pneumonia
OMIM:615067	DNAAF5	54919	HP:0011108	Recurrent sinusitis
OMIM:615067	DNAAF5	54919	HP:0002110	Bronchiectasis
OMIM:615067	DNAAF5	54919	HP:0001696	Situs inversus totalis
OMIM:615067	DNAAF5	54919	HP:0000007	Autosomal recessive inheritance
OMIM:615067	DNAAF5	54919	HP:0000403	Recurrent otitis media
OMIM:615067	DNAAF3	352909	HP:0100750	Atelectasis
OMIM:615067	DNAAF3	352909	HP:0006532	Recurrent pneumonia
OMIM:615067	DNAAF3	352909	HP:0011108	Recurrent sinusitis
OMIM:615067	DNAAF3	352909	HP:0002110	Bronchiectasis
OMIM:615067	DNAAF3	352909	HP:0001696	Situs inversus totalis
OMIM:615067	DNAAF3	352909	HP:0000007	Autosomal recessive inheritance
OMIM:615067	DNAAF3	352909	HP:0000403	Recurrent otitis media
OMIM:615067	DNAI1	27019	HP:0100750	Atelectasis
OMIM:615067	DNAI1	27019	HP:0006532	Recurrent pneumonia
OMIM:615067	DNAI1	27019	HP:0011108	Recurrent sinusitis
OMIM:615067	DNAI1	27019	HP:0002110	Bronchiectasis
OMIM:615067	DNAI1	27019	HP:0001696	Situs inversus totalis
OMIM:615067	DNAI1	27019	HP:0000007	Autosomal recessive inheritance
OMIM:615067	DNAI1	27019	HP:0000403	Recurrent otitis media
OMIM:615067	DRC1	92749	HP:0100750	Atelectasis
OMIM:615067	DRC1	92749	HP:0006532	Recurrent pneumonia
OMIM:615067	DRC1	92749	HP:0011108	Recurrent sinusitis
OMIM:615067	DRC1	92749	HP:0002110	Bronchiectasis
OMIM:615067	DRC1	92749	HP:0001696	Situs inversus totalis
OMIM:615067	DRC1	92749	HP:0000007	Autosomal recessive inheritance
OMIM:615067	DRC1	92749	HP:0000403	Recurrent otitis media
OMIM:615067	SPAG1	6674	HP:0100750	Atelectasis
OMIM:615067	SPAG1	6674	HP:0006532	Recurrent pneumonia
OMIM:615067	SPAG1	6674	HP:0011108	Recurrent sinusitis
OMIM:615067	SPAG1	6674	HP:0002110	Bronchiectasis
OMIM:615067	SPAG1	6674	HP:0001696	Situs inversus totalis
OMIM:615067	SPAG1	6674	HP:0000007	Autosomal recessive inheritance
OMIM:615067	SPAG1	6674	HP:0000403	Recurrent otitis media
OMIM:615067	RSPH3	83861	HP:0100750	Atelectasis
OMIM:615067	RSPH3	83861	HP:0006532	Recurrent pneumonia
OMIM:615067	RSPH3	83861	HP:0011108	Recurrent sinusitis
OMIM:615067	RSPH3	83861	HP:0002110	Bronchiectasis
OMIM:615067	RSPH3	83861	HP:0001696	Situs inversus totalis
OMIM:615067	RSPH3	83861	HP:0000007	Autosomal recessive inheritance
OMIM:615067	RSPH3	83861	HP:0000403	Recurrent otitis media
OMIM:615067	RPGR	6103	HP:0100750	Atelectasis
OMIM:615067	RPGR	6103	HP:0006532	Recurrent pneumonia
OMIM:615067	RPGR	6103	HP:0011108	Recurrent sinusitis
OMIM:615067	RPGR	6103	HP:0002110	Bronchiectasis
OMIM:615067	RPGR	6103	HP:0001696	Situs inversus totalis
OMIM:615067	RPGR	6103	HP:0000007	Autosomal recessive inheritance
OMIM:615067	RPGR	6103	HP:0000403	Recurrent otitis media
OMIM:615067	LRRC6	23639	HP:0100750	Atelectasis
OMIM:615067	LRRC6	23639	HP:0006532	Recurrent pneumonia
OMIM:615067	LRRC6	23639	HP:0011108	Recurrent sinusitis
OMIM:615067	LRRC6	23639	HP:0002110	Bronchiectasis
OMIM:615067	LRRC6	23639	HP:0001696	Situs inversus totalis
OMIM:615067	LRRC6	23639	HP:0000007	Autosomal recessive inheritance
OMIM:615067	LRRC6	23639	HP:0000403	Recurrent otitis media
OMIM:615067	DNAL1	83544	HP:0100750	Atelectasis
OMIM:615067	DNAL1	83544	HP:0006532	Recurrent pneumonia
OMIM:615067	DNAL1	83544	HP:0011108	Recurrent sinusitis
OMIM:615067	DNAL1	83544	HP:0002110	Bronchiectasis
OMIM:615067	DNAL1	83544	HP:0001696	Situs inversus totalis
OMIM:615067	DNAL1	83544	HP:0000007	Autosomal recessive inheritance
OMIM:615067	DNAL1	83544	HP:0000403	Recurrent otitis media
OMIM:615067	ARMC4	55130	HP:0100750	Atelectasis
OMIM:615067	ARMC4	55130	HP:0006532	Recurrent pneumonia
OMIM:615067	ARMC4	55130	HP:0011108	Recurrent sinusitis
OMIM:615067	ARMC4	55130	HP:0002110	Bronchiectasis
OMIM:615067	ARMC4	55130	HP:0001696	Situs inversus totalis
OMIM:615067	ARMC4	55130	HP:0000007	Autosomal recessive inheritance
OMIM:615067	ARMC4	55130	HP:0000403	Recurrent otitis media
OMIM:615067	CCDC103	388389	HP:0100750	Atelectasis
OMIM:615067	CCDC103	388389	HP:0006532	Recurrent pneumonia
OMIM:615067	CCDC103	388389	HP:0011108	Recurrent sinusitis
OMIM:615067	CCDC103	388389	HP:0002110	Bronchiectasis
OMIM:615067	CCDC103	388389	HP:0001696	Situs inversus totalis
OMIM:615067	CCDC103	388389	HP:0000007	Autosomal recessive inheritance
OMIM:615067	CCDC103	388389	HP:0000403	Recurrent otitis media
OMIM:615067	OFD1	8481	HP:0100750	Atelectasis
OMIM:615067	OFD1	8481	HP:0006532	Recurrent pneumonia
OMIM:615067	OFD1	8481	HP:0011108	Recurrent sinusitis
OMIM:615067	OFD1	8481	HP:0002110	Bronchiectasis
OMIM:615067	OFD1	8481	HP:0001696	Situs inversus totalis
OMIM:615067	OFD1	8481	HP:0000007	Autosomal recessive inheritance
OMIM:615067	OFD1	8481	HP:0000403	Recurrent otitis media
OMIM:615067	DNAAF1	123872	HP:0100750	Atelectasis
OMIM:615067	DNAAF1	123872	HP:0006532	Recurrent pneumonia
OMIM:615067	DNAAF1	123872	HP:0011108	Recurrent sinusitis
OMIM:615067	DNAAF1	123872	HP:0002110	Bronchiectasis
OMIM:615067	DNAAF1	123872	HP:0001696	Situs inversus totalis
OMIM:615067	DNAAF1	123872	HP:0000007	Autosomal recessive inheritance
OMIM:615067	DNAAF1	123872	HP:0000403	Recurrent otitis media
OMIM:615067	RSPH4A	345895	HP:0100750	Atelectasis
OMIM:615067	RSPH4A	345895	HP:0006532	Recurrent pneumonia
OMIM:615067	RSPH4A	345895	HP:0011108	Recurrent sinusitis
OMIM:615067	RSPH4A	345895	HP:0002110	Bronchiectasis
OMIM:615067	RSPH4A	345895	HP:0001696	Situs inversus totalis
OMIM:615067	RSPH4A	345895	HP:0000007	Autosomal recessive inheritance
OMIM:615067	RSPH4A	345895	HP:0000403	Recurrent otitis media
OMIM:615067	RSPH1	89765	HP:0100750	Atelectasis
OMIM:615067	RSPH1	89765	HP:0006532	Recurrent pneumonia
OMIM:615067	RSPH1	89765	HP:0011108	Recurrent sinusitis
OMIM:615067	RSPH1	89765	HP:0002110	Bronchiectasis
OMIM:615067	RSPH1	89765	HP:0001696	Situs inversus totalis
OMIM:615067	RSPH1	89765	HP:0000007	Autosomal recessive inheritance
OMIM:615067	RSPH1	89765	HP:0000403	Recurrent otitis media
OMIM:615067	ZMYND10	51364	HP:0100750	Atelectasis
OMIM:615067	ZMYND10	51364	HP:0006532	Recurrent pneumonia
OMIM:615067	ZMYND10	51364	HP:0011108	Recurrent sinusitis
OMIM:615067	ZMYND10	51364	HP:0002110	Bronchiectasis
OMIM:615067	ZMYND10	51364	HP:0001696	Situs inversus totalis
OMIM:615067	ZMYND10	51364	HP:0000007	Autosomal recessive inheritance
OMIM:615067	ZMYND10	51364	HP:0000403	Recurrent otitis media
OMIM:615067	DNAH5	1767	HP:0100750	Atelectasis
OMIM:615067	DNAH5	1767	HP:0006532	Recurrent pneumonia
OMIM:615067	DNAH5	1767	HP:0011108	Recurrent sinusitis
OMIM:615067	DNAH5	1767	HP:0002110	Bronchiectasis
OMIM:615067	DNAH5	1767	HP:0001696	Situs inversus totalis
OMIM:615067	DNAH5	1767	HP:0000007	Autosomal recessive inheritance
OMIM:615067	DNAH5	1767	HP:0000403	Recurrent otitis media
OMIM:615067	CCDC65	85478	HP:0100750	Atelectasis
OMIM:615067	CCDC65	85478	HP:0006532	Recurrent pneumonia
OMIM:615067	CCDC65	85478	HP:0011108	Recurrent sinusitis
OMIM:615067	CCDC65	85478	HP:0002110	Bronchiectasis
OMIM:615067	CCDC65	85478	HP:0001696	Situs inversus totalis
OMIM:615067	CCDC65	85478	HP:0000007	Autosomal recessive inheritance
OMIM:615067	CCDC65	85478	HP:0000403	Recurrent otitis media
OMIM:615067	C21ORF59	56683	HP:0100750	Atelectasis
OMIM:615067	C21ORF59	56683	HP:0006532	Recurrent pneumonia
OMIM:615067	C21ORF59	56683	HP:0011108	Recurrent sinusitis
OMIM:615067	C21ORF59	56683	HP:0002110	Bronchiectasis
OMIM:615067	C21ORF59	56683	HP:0001696	Situs inversus totalis
OMIM:615067	C21ORF59	56683	HP:0000007	Autosomal recessive inheritance
OMIM:615067	C21ORF59	56683	HP:0000403	Recurrent otitis media
OMIM:615067	DYX1C1	161582	HP:0100750	Atelectasis
OMIM:615067	DYX1C1	161582	HP:0006532	Recurrent pneumonia
OMIM:615067	DYX1C1	161582	HP:0011108	Recurrent sinusitis
OMIM:615067	DYX1C1	161582	HP:0002110	Bronchiectasis
OMIM:615067	DYX1C1	161582	HP:0001696	Situs inversus totalis
OMIM:615067	DYX1C1	161582	HP:0000007	Autosomal recessive inheritance
OMIM:615067	DYX1C1	161582	HP:0000403	Recurrent otitis media
OMIM:615067	CCDC151	115948	HP:0100750	Atelectasis
OMIM:615067	CCDC151	115948	HP:0006532	Recurrent pneumonia
OMIM:615067	CCDC151	115948	HP:0011108	Recurrent sinusitis
OMIM:615067	CCDC151	115948	HP:0002110	Bronchiectasis
OMIM:615067	CCDC151	115948	HP:0001696	Situs inversus totalis
OMIM:615067	CCDC151	115948	HP:0000007	Autosomal recessive inheritance
OMIM:615067	CCDC151	115948	HP:0000403	Recurrent otitis media
OMIM:615067	RSPH9	221421	HP:0100750	Atelectasis
OMIM:615067	RSPH9	221421	HP:0006532	Recurrent pneumonia
OMIM:615067	RSPH9	221421	HP:0011108	Recurrent sinusitis
OMIM:615067	RSPH9	221421	HP:0002110	Bronchiectasis
OMIM:615067	RSPH9	221421	HP:0001696	Situs inversus totalis
OMIM:615067	RSPH9	221421	HP:0000007	Autosomal recessive inheritance
OMIM:615067	RSPH9	221421	HP:0000403	Recurrent otitis media
OMIM:615067	CCDC114	93233	HP:0100750	Atelectasis
OMIM:615067	CCDC114	93233	HP:0006532	Recurrent pneumonia
OMIM:615067	CCDC114	93233	HP:0011108	Recurrent sinusitis
OMIM:615067	CCDC114	93233	HP:0002110	Bronchiectasis
OMIM:615067	CCDC114	93233	HP:0001696	Situs inversus totalis
OMIM:615067	CCDC114	93233	HP:0000007	Autosomal recessive inheritance
OMIM:615067	CCDC114	93233	HP:0000403	Recurrent otitis media
OMIM:615067	CCDC39	339829	HP:0100750	Atelectasis
OMIM:615067	CCDC39	339829	HP:0006532	Recurrent pneumonia
OMIM:615067	CCDC39	339829	HP:0011108	Recurrent sinusitis
OMIM:615067	CCDC39	339829	HP:0002110	Bronchiectasis
OMIM:615067	CCDC39	339829	HP:0001696	Situs inversus totalis
OMIM:615067	CCDC39	339829	HP:0000007	Autosomal recessive inheritance
OMIM:615067	CCDC39	339829	HP:0000403	Recurrent otitis media
OMIM:615067	HYDIN	54768	HP:0100750	Atelectasis
OMIM:615067	HYDIN	54768	HP:0006532	Recurrent pneumonia
OMIM:615067	HYDIN	54768	HP:0011108	Recurrent sinusitis
OMIM:615067	HYDIN	54768	HP:0002110	Bronchiectasis
OMIM:615067	HYDIN	54768	HP:0001696	Situs inversus totalis
OMIM:615067	HYDIN	54768	HP:0000007	Autosomal recessive inheritance
OMIM:615067	HYDIN	54768	HP:0000403	Recurrent otitis media
OMIM:615067	NME8	51314	HP:0100750	Atelectasis
OMIM:615067	NME8	51314	HP:0006532	Recurrent pneumonia
OMIM:615067	NME8	51314	HP:0011108	Recurrent sinusitis
OMIM:615067	NME8	51314	HP:0002110	Bronchiectasis
OMIM:615067	NME8	51314	HP:0001696	Situs inversus totalis
OMIM:615067	NME8	51314	HP:0000007	Autosomal recessive inheritance
OMIM:615067	NME8	51314	HP:0000403	Recurrent otitis media
OMIM:615067	CCDC40	55036	HP:0100750	Atelectasis
OMIM:615067	CCDC40	55036	HP:0006532	Recurrent pneumonia
OMIM:615067	CCDC40	55036	HP:0011108	Recurrent sinusitis
OMIM:615067	CCDC40	55036	HP:0002110	Bronchiectasis
OMIM:615067	CCDC40	55036	HP:0001696	Situs inversus totalis
OMIM:615067	CCDC40	55036	HP:0000007	Autosomal recessive inheritance
OMIM:615067	CCDC40	55036	HP:0000403	Recurrent otitis media
OMIM:615067	DNAH11	8701	HP:0100750	Atelectasis
OMIM:615067	DNAH11	8701	HP:0006532	Recurrent pneumonia
OMIM:615067	DNAH11	8701	HP:0011108	Recurrent sinusitis
OMIM:615067	DNAH11	8701	HP:0002110	Bronchiectasis
OMIM:615067	DNAH11	8701	HP:0001696	Situs inversus totalis
OMIM:615067	DNAH11	8701	HP:0000007	Autosomal recessive inheritance
OMIM:615067	DNAH11	8701	HP:0000403	Recurrent otitis media
OMIM:615067	DNAI2	64446	HP:0100750	Atelectasis
OMIM:615067	DNAI2	64446	HP:0006532	Recurrent pneumonia
OMIM:615067	DNAI2	64446	HP:0011108	Recurrent sinusitis
OMIM:615067	DNAI2	64446	HP:0002110	Bronchiectasis
OMIM:615067	DNAI2	64446	HP:0001696	Situs inversus totalis
OMIM:615067	DNAI2	64446	HP:0000007	Autosomal recessive inheritance
OMIM:615067	DNAI2	64446	HP:0000403	Recurrent otitis media
OMIM:615067	GAS8	2622	HP:0100750	Atelectasis
OMIM:615067	GAS8	2622	HP:0006532	Recurrent pneumonia
OMIM:615067	GAS8	2622	HP:0011108	Recurrent sinusitis
OMIM:615067	GAS8	2622	HP:0002110	Bronchiectasis
OMIM:615067	GAS8	2622	HP:0001696	Situs inversus totalis
OMIM:615067	GAS8	2622	HP:0000007	Autosomal recessive inheritance
OMIM:615067	GAS8	2622	HP:0000403	Recurrent otitis media
ORPHANET:2470	RARB	5915	HP:0000028	Cryptorchidism
ORPHANET:2470	RARB	5915	HP:0002101	Abnormal lung lobation
ORPHANET:2470	RARB	5915	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:2470	RARB	5915	HP:0001600	Abnormality of the larynx
ORPHANET:2470	RARB	5915	HP:0100542	Abnormal localization of kidney
ORPHANET:2470	RARB	5915	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2470	RARB	5915	HP:0000076	Vesicoureteral reflux
ORPHANET:2470	RARB	5915	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:2470	RARB	5915	HP:0100867	Duodenal stenosis
ORPHANET:2470	RARB	5915	HP:0000008	Abnormality of female internal genitalia
ORPHANET:2470	RARB	5915	HP:0001743	Abnormality of the spleen
ORPHANET:2470	RARB	5915	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2470	RARB	5915	HP:0001511	Intrauterine growth retardation
ORPHANET:2470	RARB	5915	HP:0100543	Cognitive impairment
ORPHANET:2470	RARB	5915	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2470	RARB	5915	HP:0001252	Muscular hypotonia
ORPHANET:2470	STRA6	64220	HP:0000028	Cryptorchidism
ORPHANET:2470	STRA6	64220	HP:0002101	Abnormal lung lobation
ORPHANET:2470	STRA6	64220	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHANET:2470	STRA6	64220	HP:0001600	Abnormality of the larynx
ORPHANET:2470	STRA6	64220	HP:0100542	Abnormal localization of kidney
ORPHANET:2470	STRA6	64220	HP:0000776	Congenital diaphragmatic hernia
ORPHANET:2470	STRA6	64220	HP:0000076	Vesicoureteral reflux
ORPHANET:2470	STRA6	64220	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:2470	STRA6	64220	HP:0100867	Duodenal stenosis
ORPHANET:2470	STRA6	64220	HP:0000008	Abnormality of female internal genitalia
ORPHANET:2470	STRA6	64220	HP:0001743	Abnormality of the spleen
ORPHANET:2470	STRA6	64220	HP:0008056	Aplasia/Hypoplasia affecting the eye
ORPHANET:2470	STRA6	64220	HP:0001511	Intrauterine growth retardation
ORPHANET:2470	STRA6	64220	HP:0100543	Cognitive impairment
ORPHANET:2470	STRA6	64220	HP:0000368	Low-set, posteriorly rotated ears
ORPHANET:2470	STRA6	64220	HP:0001252	Muscular hypotonia
OMIM:309120	TEX11	56159	HP:0003251	Male infertility
OMIM:309120	TEX11	56159	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:309120	TEX11	56159	HP:0000027	Azoospermia
OMIM:605820	GNE	10020	HP:0002460	Distal muscle weakness
OMIM:605820	GNE	10020	HP:0003458	EMG: myopathic abnormalities
OMIM:605820	GNE	10020	HP:0003805	Rimmed vacuoles
OMIM:605820	GNE	10020	HP:0003236	Elevated serum creatine phosphokinase
OMIM:605820	GNE	10020	HP:0000007	Autosomal recessive inheritance
OMIM:605820	GNE	10020	HP:0001288	Gait disturbance
OMIM:605820	GNE	10020	HP:0003581	Adult onset
OMIM:605820	GNE	10020	HP:0003693	Distal amyotrophy
ORPHANET:107	EYA1	2138	HP:0000175	Cleft palate
ORPHANET:107	EYA1	2138	HP:0000359	Abnormality of the inner ear
ORPHANET:107	EYA1	2138	HP:0000003	Multicystic kidney dysplasia
ORPHANET:107	EYA1	2138	HP:0000083	Renal insufficiency
ORPHANET:107	EYA1	2138	HP:0008572	External ear malformation
ORPHANET:107	EYA1	2138	HP:0000076	Vesicoureteral reflux
ORPHANET:107	EYA1	2138	HP:0000365	Hearing impairment
ORPHANET:107	EYA1	2138	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:107	EYA1	2138	HP:0000413	Atresia of the external auditory canal
ORPHANET:107	EYA1	2138	HP:0000370	Abnormality of the middle ear
ORPHANET:107	EYA1	2138	HP:0000632	Lacrimation abnormality
ORPHANET:107	EYA1	2138	HP:0000347	Micrognathia
ORPHANET:107	EYA1	2138	HP:0000384	Preauricular skin tag
ORPHANET:107	EYA1	2138	HP:0010628	Facial palsy
ORPHANET:107	SIX5	147912	HP:0000175	Cleft palate
ORPHANET:107	SIX5	147912	HP:0000359	Abnormality of the inner ear
ORPHANET:107	SIX5	147912	HP:0000003	Multicystic kidney dysplasia
ORPHANET:107	SIX5	147912	HP:0000083	Renal insufficiency
ORPHANET:107	SIX5	147912	HP:0008572	External ear malformation
ORPHANET:107	SIX5	147912	HP:0000076	Vesicoureteral reflux
ORPHANET:107	SIX5	147912	HP:0000365	Hearing impairment
ORPHANET:107	SIX5	147912	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:107	SIX5	147912	HP:0000413	Atresia of the external auditory canal
ORPHANET:107	SIX5	147912	HP:0000370	Abnormality of the middle ear
ORPHANET:107	SIX5	147912	HP:0000632	Lacrimation abnormality
ORPHANET:107	SIX5	147912	HP:0000347	Micrognathia
ORPHANET:107	SIX5	147912	HP:0000384	Preauricular skin tag
ORPHANET:107	SIX5	147912	HP:0010628	Facial palsy
ORPHANET:107	SIX1	6495	HP:0000175	Cleft palate
ORPHANET:107	SIX1	6495	HP:0000359	Abnormality of the inner ear
ORPHANET:107	SIX1	6495	HP:0000003	Multicystic kidney dysplasia
ORPHANET:107	SIX1	6495	HP:0000083	Renal insufficiency
ORPHANET:107	SIX1	6495	HP:0008572	External ear malformation
ORPHANET:107	SIX1	6495	HP:0000076	Vesicoureteral reflux
ORPHANET:107	SIX1	6495	HP:0000365	Hearing impairment
ORPHANET:107	SIX1	6495	HP:0008678	Renal hypoplasia/aplasia
ORPHANET:107	SIX1	6495	HP:0000413	Atresia of the external auditory canal
ORPHANET:107	SIX1	6495	HP:0000370	Abnormality of the middle ear
ORPHANET:107	SIX1	6495	HP:0000632	Lacrimation abnormality
ORPHANET:107	SIX1	6495	HP:0000347	Micrognathia
ORPHANET:107	SIX1	6495	HP:0000384	Preauricular skin tag
ORPHANET:107	SIX1	6495	HP:0010628	Facial palsy
OMIM:257270	SLC24A1	9187	HP:0007642	Congenital stationary night blindness
OMIM:257270	SLC24A1	9187	HP:0000545	Myopia
OMIM:257270	SLC24A1	9187	HP:0012047	Hemeralopia
OMIM:257270	SLC24A1	9187	HP:0000007	Autosomal recessive inheritance
OMIM:257270	GRM6	2916	HP:0007642	Congenital stationary night blindness
OMIM:257270	GRM6	2916	HP:0000545	Myopia
OMIM:257270	GRM6	2916	HP:0012047	Hemeralopia
OMIM:257270	GRM6	2916	HP:0000007	Autosomal recessive inheritance
OMIM:257270	PDE6B	5158	HP:0007642	Congenital stationary night blindness
OMIM:257270	PDE6B	5158	HP:0000545	Myopia
OMIM:257270	PDE6B	5158	HP:0012047	Hemeralopia
OMIM:257270	PDE6B	5158	HP:0000007	Autosomal recessive inheritance
OMIM:257270	CACNA1F	778	HP:0007642	Congenital stationary night blindness
OMIM:257270	CACNA1F	778	HP:0000545	Myopia
OMIM:257270	CACNA1F	778	HP:0012047	Hemeralopia
OMIM:257270	CACNA1F	778	HP:0000007	Autosomal recessive inheritance
OMIM:257270	LRIT3	345193	HP:0007642	Congenital stationary night blindness
OMIM:257270	LRIT3	345193	HP:0000545	Myopia
OMIM:257270	LRIT3	345193	HP:0012047	Hemeralopia
OMIM:257270	LRIT3	345193	HP:0000007	Autosomal recessive inheritance
OMIM:257270	CABP4	57010	HP:0007642	Congenital stationary night blindness
OMIM:257270	CABP4	57010	HP:0000545	Myopia
OMIM:257270	CABP4	57010	HP:0012047	Hemeralopia
OMIM:257270	CABP4	57010	HP:0000007	Autosomal recessive inheritance
OMIM:257270	CACNA2D4	93589	HP:0007642	Congenital stationary night blindness
OMIM:257270	CACNA2D4	93589	HP:0000545	Myopia
OMIM:257270	CACNA2D4	93589	HP:0012047	Hemeralopia
OMIM:257270	CACNA2D4	93589	HP:0000007	Autosomal recessive inheritance
OMIM:257270	TRPM1	4308	HP:0007642	Congenital stationary night blindness
OMIM:257270	TRPM1	4308	HP:0000545	Myopia
OMIM:257270	TRPM1	4308	HP:0012047	Hemeralopia
OMIM:257270	TRPM1	4308	HP:0000007	Autosomal recessive inheritance
OMIM:257270	GPR179	440435	HP:0007642	Congenital stationary night blindness
OMIM:257270	GPR179	440435	HP:0000545	Myopia
OMIM:257270	GPR179	440435	HP:0012047	Hemeralopia
OMIM:257270	GPR179	440435	HP:0000007	Autosomal recessive inheritance
OMIM:257270	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:257270	SAG	6295	HP:0000545	Myopia
OMIM:257270	SAG	6295	HP:0012047	Hemeralopia
OMIM:257270	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:257270	RHO	6010	HP:0007642	Congenital stationary night blindness
OMIM:257270	RHO	6010	HP:0000545	Myopia
OMIM:257270	RHO	6010	HP:0012047	Hemeralopia
OMIM:257270	RHO	6010	HP:0000007	Autosomal recessive inheritance
OMIM:257270	NYX	60506	HP:0007642	Congenital stationary night blindness
OMIM:257270	NYX	60506	HP:0000545	Myopia
OMIM:257270	NYX	60506	HP:0012047	Hemeralopia
OMIM:257270	NYX	60506	HP:0000007	Autosomal recessive inheritance
OMIM:257270	GNAT1	2779	HP:0007642	Congenital stationary night blindness
OMIM:257270	GNAT1	2779	HP:0000545	Myopia
OMIM:257270	GNAT1	2779	HP:0012047	Hemeralopia
OMIM:257270	GNAT1	2779	HP:0000007	Autosomal recessive inheritance
OMIM:257270	GRK1	6011	HP:0007642	Congenital stationary night blindness
OMIM:257270	GRK1	6011	HP:0000545	Myopia
OMIM:257270	GRK1	6011	HP:0012047	Hemeralopia
OMIM:257270	GRK1	6011	HP:0000007	Autosomal recessive inheritance
OMIM:269400	ATOH7	220202	HP:0000482	Microcornea
OMIM:269400	ATOH7	220202	HP:0000647	Sclerocornea
OMIM:269400	ATOH7	220202	HP:0007700	Anterior segment dysgenesis
OMIM:269400	ATOH7	220202	HP:0000007	Autosomal recessive inheritance
OMIM:269400	ATOH7	220202	HP:0000518	Cataract
OMIM:269400	ATOH7	220202	HP:0000356	Abnormality of the outer ear
OMIM:269400	ATOH7	220202	HP:0000557	Buphthalmos
OMIM:269400	ATOH7	220202	HP:0000568	Microphthalmia
OMIM:269400	PXDN	7837	HP:0000482	Microcornea
OMIM:269400	PXDN	7837	HP:0000647	Sclerocornea
OMIM:269400	PXDN	7837	HP:0007700	Anterior segment dysgenesis
OMIM:269400	PXDN	7837	HP:0000007	Autosomal recessive inheritance
OMIM:269400	PXDN	7837	HP:0000518	Cataract
OMIM:269400	PXDN	7837	HP:0000356	Abnormality of the outer ear
OMIM:269400	PXDN	7837	HP:0000557	Buphthalmos
OMIM:269400	PXDN	7837	HP:0000568	Microphthalmia
OMIM:603649	AIPL1	23746	HP:0012045	Retinal flecks
OMIM:603649	AIPL1	23746	HP:0000551	Abnormality of color vision
OMIM:603649	AIPL1	23746	HP:0011504	Bull's eye maculopathy
OMIM:603649	AIPL1	23746	HP:0000006	Autosomal dominant inheritance
OMIM:603649	AIPL1	23746	HP:0000505	Visual impairment
OMIM:603649	AIPL1	23746	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	PITPNM3	83394	HP:0012045	Retinal flecks
OMIM:603649	PITPNM3	83394	HP:0000551	Abnormality of color vision
OMIM:603649	PITPNM3	83394	HP:0011504	Bull's eye maculopathy
OMIM:603649	PITPNM3	83394	HP:0000006	Autosomal dominant inheritance
OMIM:603649	PITPNM3	83394	HP:0000505	Visual impairment
OMIM:603649	PITPNM3	83394	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	OPN1LW	5956	HP:0012045	Retinal flecks
OMIM:603649	OPN1LW	5956	HP:0000551	Abnormality of color vision
OMIM:603649	OPN1LW	5956	HP:0011504	Bull's eye maculopathy
OMIM:603649	OPN1LW	5956	HP:0000006	Autosomal dominant inheritance
OMIM:603649	OPN1LW	5956	HP:0000505	Visual impairment
OMIM:603649	OPN1LW	5956	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	UNC119	9094	HP:0012045	Retinal flecks
OMIM:603649	UNC119	9094	HP:0000551	Abnormality of color vision
OMIM:603649	UNC119	9094	HP:0011504	Bull's eye maculopathy
OMIM:603649	UNC119	9094	HP:0000006	Autosomal dominant inheritance
OMIM:603649	UNC119	9094	HP:0000505	Visual impairment
OMIM:603649	UNC119	9094	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	RPGRIP1	57096	HP:0012045	Retinal flecks
OMIM:603649	RPGRIP1	57096	HP:0000551	Abnormality of color vision
OMIM:603649	RPGRIP1	57096	HP:0011504	Bull's eye maculopathy
OMIM:603649	RPGRIP1	57096	HP:0000006	Autosomal dominant inheritance
OMIM:603649	RPGRIP1	57096	HP:0000505	Visual impairment
OMIM:603649	RPGRIP1	57096	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	PRPH2	5961	HP:0012045	Retinal flecks
OMIM:603649	PRPH2	5961	HP:0000551	Abnormality of color vision
OMIM:603649	PRPH2	5961	HP:0011504	Bull's eye maculopathy
OMIM:603649	PRPH2	5961	HP:0000006	Autosomal dominant inheritance
OMIM:603649	PRPH2	5961	HP:0000505	Visual impairment
OMIM:603649	PRPH2	5961	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	CACNA1F	778	HP:0012045	Retinal flecks
OMIM:603649	CACNA1F	778	HP:0000551	Abnormality of color vision
OMIM:603649	CACNA1F	778	HP:0011504	Bull's eye maculopathy
OMIM:603649	CACNA1F	778	HP:0000006	Autosomal dominant inheritance
OMIM:603649	CACNA1F	778	HP:0000505	Visual impairment
OMIM:603649	CACNA1F	778	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	PROM1	8842	HP:0012045	Retinal flecks
OMIM:603649	PROM1	8842	HP:0000551	Abnormality of color vision
OMIM:603649	PROM1	8842	HP:0011504	Bull's eye maculopathy
OMIM:603649	PROM1	8842	HP:0000006	Autosomal dominant inheritance
OMIM:603649	PROM1	8842	HP:0000505	Visual impairment
OMIM:603649	PROM1	8842	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	DRAM2	128338	HP:0012045	Retinal flecks
OMIM:603649	DRAM2	128338	HP:0000551	Abnormality of color vision
OMIM:603649	DRAM2	128338	HP:0011504	Bull's eye maculopathy
OMIM:603649	DRAM2	128338	HP:0000006	Autosomal dominant inheritance
OMIM:603649	DRAM2	128338	HP:0000505	Visual impairment
OMIM:603649	DRAM2	128338	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	CACNA2D4	93589	HP:0012045	Retinal flecks
OMIM:603649	CACNA2D4	93589	HP:0000551	Abnormality of color vision
OMIM:603649	CACNA2D4	93589	HP:0011504	Bull's eye maculopathy
OMIM:603649	CACNA2D4	93589	HP:0000006	Autosomal dominant inheritance
OMIM:603649	CACNA2D4	93589	HP:0000505	Visual impairment
OMIM:603649	CACNA2D4	93589	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	RAB28	9364	HP:0012045	Retinal flecks
OMIM:603649	RAB28	9364	HP:0000551	Abnormality of color vision
OMIM:603649	RAB28	9364	HP:0011504	Bull's eye maculopathy
OMIM:603649	RAB28	9364	HP:0000006	Autosomal dominant inheritance
OMIM:603649	RAB28	9364	HP:0000505	Visual impairment
OMIM:603649	RAB28	9364	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	RIMS1	22999	HP:0012045	Retinal flecks
OMIM:603649	RIMS1	22999	HP:0000551	Abnormality of color vision
OMIM:603649	RIMS1	22999	HP:0011504	Bull's eye maculopathy
OMIM:603649	RIMS1	22999	HP:0000006	Autosomal dominant inheritance
OMIM:603649	RIMS1	22999	HP:0000505	Visual impairment
OMIM:603649	RIMS1	22999	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	RPGR	6103	HP:0012045	Retinal flecks
OMIM:603649	RPGR	6103	HP:0000551	Abnormality of color vision
OMIM:603649	RPGR	6103	HP:0011504	Bull's eye maculopathy
OMIM:603649	RPGR	6103	HP:0000006	Autosomal dominant inheritance
OMIM:603649	RPGR	6103	HP:0000505	Visual impairment
OMIM:603649	RPGR	6103	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	ABCA4	24	HP:0012045	Retinal flecks
OMIM:603649	ABCA4	24	HP:0000551	Abnormality of color vision
OMIM:603649	ABCA4	24	HP:0011504	Bull's eye maculopathy
OMIM:603649	ABCA4	24	HP:0000006	Autosomal dominant inheritance
OMIM:603649	ABCA4	24	HP:0000505	Visual impairment
OMIM:603649	ABCA4	24	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	SEMA4A	64218	HP:0012045	Retinal flecks
OMIM:603649	SEMA4A	64218	HP:0000551	Abnormality of color vision
OMIM:603649	SEMA4A	64218	HP:0011504	Bull's eye maculopathy
OMIM:603649	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:603649	SEMA4A	64218	HP:0000505	Visual impairment
OMIM:603649	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	C8ORF37	157657	HP:0012045	Retinal flecks
OMIM:603649	C8ORF37	157657	HP:0000551	Abnormality of color vision
OMIM:603649	C8ORF37	157657	HP:0011504	Bull's eye maculopathy
OMIM:603649	C8ORF37	157657	HP:0000006	Autosomal dominant inheritance
OMIM:603649	C8ORF37	157657	HP:0000505	Visual impairment
OMIM:603649	C8ORF37	157657	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	OPN1MW	2652	HP:0012045	Retinal flecks
OMIM:603649	OPN1MW	2652	HP:0000551	Abnormality of color vision
OMIM:603649	OPN1MW	2652	HP:0011504	Bull's eye maculopathy
OMIM:603649	OPN1MW	2652	HP:0000006	Autosomal dominant inheritance
OMIM:603649	OPN1MW	2652	HP:0000505	Visual impairment
OMIM:603649	OPN1MW	2652	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	GUCA1A	2978	HP:0012045	Retinal flecks
OMIM:603649	GUCA1A	2978	HP:0000551	Abnormality of color vision
OMIM:603649	GUCA1A	2978	HP:0011504	Bull's eye maculopathy
OMIM:603649	GUCA1A	2978	HP:0000006	Autosomal dominant inheritance
OMIM:603649	GUCA1A	2978	HP:0000505	Visual impairment
OMIM:603649	GUCA1A	2978	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	RAX2	84839	HP:0012045	Retinal flecks
OMIM:603649	RAX2	84839	HP:0000551	Abnormality of color vision
OMIM:603649	RAX2	84839	HP:0011504	Bull's eye maculopathy
OMIM:603649	RAX2	84839	HP:0000006	Autosomal dominant inheritance
OMIM:603649	RAX2	84839	HP:0000505	Visual impairment
OMIM:603649	RAX2	84839	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	CNGA3	1261	HP:0012045	Retinal flecks
OMIM:603649	CNGA3	1261	HP:0000551	Abnormality of color vision
OMIM:603649	CNGA3	1261	HP:0011504	Bull's eye maculopathy
OMIM:603649	CNGA3	1261	HP:0000006	Autosomal dominant inheritance
OMIM:603649	CNGA3	1261	HP:0000505	Visual impairment
OMIM:603649	CNGA3	1261	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	ADAM9	8754	HP:0012045	Retinal flecks
OMIM:603649	ADAM9	8754	HP:0000551	Abnormality of color vision
OMIM:603649	ADAM9	8754	HP:0011504	Bull's eye maculopathy
OMIM:603649	ADAM9	8754	HP:0000006	Autosomal dominant inheritance
OMIM:603649	ADAM9	8754	HP:0000505	Visual impairment
OMIM:603649	ADAM9	8754	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	CDHR1	92211	HP:0012045	Retinal flecks
OMIM:603649	CDHR1	92211	HP:0000551	Abnormality of color vision
OMIM:603649	CDHR1	92211	HP:0011504	Bull's eye maculopathy
OMIM:603649	CDHR1	92211	HP:0000006	Autosomal dominant inheritance
OMIM:603649	CDHR1	92211	HP:0000505	Visual impairment
OMIM:603649	CDHR1	92211	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	TTLL5	23093	HP:0012045	Retinal flecks
OMIM:603649	TTLL5	23093	HP:0000551	Abnormality of color vision
OMIM:603649	TTLL5	23093	HP:0011504	Bull's eye maculopathy
OMIM:603649	TTLL5	23093	HP:0000006	Autosomal dominant inheritance
OMIM:603649	TTLL5	23093	HP:0000505	Visual impairment
OMIM:603649	TTLL5	23093	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	GUCY2D	3000	HP:0012045	Retinal flecks
OMIM:603649	GUCY2D	3000	HP:0000551	Abnormality of color vision
OMIM:603649	GUCY2D	3000	HP:0011504	Bull's eye maculopathy
OMIM:603649	GUCY2D	3000	HP:0000006	Autosomal dominant inheritance
OMIM:603649	GUCY2D	3000	HP:0000505	Visual impairment
OMIM:603649	GUCY2D	3000	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	POC1B	282809	HP:0012045	Retinal flecks
OMIM:603649	POC1B	282809	HP:0000551	Abnormality of color vision
OMIM:603649	POC1B	282809	HP:0011504	Bull's eye maculopathy
OMIM:603649	POC1B	282809	HP:0000006	Autosomal dominant inheritance
OMIM:603649	POC1B	282809	HP:0000505	Visual impairment
OMIM:603649	POC1B	282809	HP:0000548	Cone/cone-rod dystrophy
OMIM:603649	CRX	1406	HP:0012045	Retinal flecks
OMIM:603649	CRX	1406	HP:0000551	Abnormality of color vision
OMIM:603649	CRX	1406	HP:0011504	Bull's eye maculopathy
OMIM:603649	CRX	1406	HP:0000006	Autosomal dominant inheritance
OMIM:603649	CRX	1406	HP:0000505	Visual impairment
OMIM:603649	CRX	1406	HP:0000548	Cone/cone-rod dystrophy
OMIM:613076	GFER	2671	HP:0000007	Autosomal recessive inheritance
OMIM:613076	GFER	2671	HP:0003198	Myopathy
OMIM:613076	GFER	2671	HP:0000407	Sensorineural hearing impairment
OMIM:613076	GFER	2671	HP:0000518	Cataract
OMIM:613076	GFER	2671	HP:0001263	Global developmental delay
OMIM:614473	ABCC6	368	HP:0001635	Congestive heart failure
OMIM:614473	ABCC6	368	HP:0000822	Hypertension
OMIM:614473	ABCC6	368	HP:0000007	Autosomal recessive inheritance
OMIM:614473	ABCC6	368	HP:0000121	Nephrocalcinosis
OMIM:614473	ABCC6	368	HP:0001658	Myocardial infarction
OMIM:614473	ENPP1	5167	HP:0001635	Congestive heart failure
OMIM:614473	ENPP1	5167	HP:0000822	Hypertension
OMIM:614473	ENPP1	5167	HP:0000007	Autosomal recessive inheritance
OMIM:614473	ENPP1	5167	HP:0000121	Nephrocalcinosis
OMIM:614473	ENPP1	5167	HP:0001658	Myocardial infarction
OMIM:616138	CLPP	8192	HP:0001251	Ataxia
OMIM:616138	CLPP	8192	HP:0000133	Gonadal dysgenesis
OMIM:616138	CLPP	8192	HP:0001250	Seizures
OMIM:616138	CLPP	8192	HP:0001761	Pes cavus
OMIM:616138	CLPP	8192	HP:0000639	Nystagmus
OMIM:616138	CLPP	8192	HP:0000786	Primary amenorrhea
OMIM:616138	CLPP	8192	HP:0000815	Hypergonadotropic hypogonadism
OMIM:616138	CLPP	8192	HP:0003542	Increased serum pyruvate
OMIM:616138	CLPP	8192	HP:0000602	Ophthalmoplegia
OMIM:616138	CLPP	8192	HP:0000218	High palate
OMIM:616138	CLPP	8192	HP:0001265	Hyporeflexia
OMIM:616138	CLPP	8192	HP:0002151	Increased serum lactate
OMIM:616138	LARS2	23395	HP:0001251	Ataxia
OMIM:616138	LARS2	23395	HP:0000133	Gonadal dysgenesis
OMIM:616138	LARS2	23395	HP:0001250	Seizures
OMIM:616138	LARS2	23395	HP:0001761	Pes cavus
OMIM:616138	LARS2	23395	HP:0000639	Nystagmus
OMIM:616138	LARS2	23395	HP:0000786	Primary amenorrhea
OMIM:616138	LARS2	23395	HP:0000815	Hypergonadotropic hypogonadism
OMIM:616138	LARS2	23395	HP:0003542	Increased serum pyruvate
OMIM:616138	LARS2	23395	HP:0000602	Ophthalmoplegia
OMIM:616138	LARS2	23395	HP:0000218	High palate
OMIM:616138	LARS2	23395	HP:0001265	Hyporeflexia
OMIM:616138	LARS2	23395	HP:0002151	Increased serum lactate
OMIM:616138	C10ORF2	56652	HP:0001251	Ataxia
OMIM:616138	C10ORF2	56652	HP:0000133	Gonadal dysgenesis
OMIM:616138	C10ORF2	56652	HP:0001250	Seizures
OMIM:616138	C10ORF2	56652	HP:0001761	Pes cavus
OMIM:616138	C10ORF2	56652	HP:0000639	Nystagmus
OMIM:616138	C10ORF2	56652	HP:0000786	Primary amenorrhea
OMIM:616138	C10ORF2	56652	HP:0000815	Hypergonadotropic hypogonadism
OMIM:616138	C10ORF2	56652	HP:0003542	Increased serum pyruvate
OMIM:616138	C10ORF2	56652	HP:0000602	Ophthalmoplegia
OMIM:616138	C10ORF2	56652	HP:0000218	High palate
OMIM:616138	C10ORF2	56652	HP:0001265	Hyporeflexia
OMIM:616138	C10ORF2	56652	HP:0002151	Increased serum lactate
OMIM:616138	HARS2	23438	HP:0001251	Ataxia
OMIM:616138	HARS2	23438	HP:0000133	Gonadal dysgenesis
OMIM:616138	HARS2	23438	HP:0001250	Seizures
OMIM:616138	HARS2	23438	HP:0001761	Pes cavus
OMIM:616138	HARS2	23438	HP:0000639	Nystagmus
OMIM:616138	HARS2	23438	HP:0000786	Primary amenorrhea
OMIM:616138	HARS2	23438	HP:0000815	Hypergonadotropic hypogonadism
OMIM:616138	HARS2	23438	HP:0003542	Increased serum pyruvate
OMIM:616138	HARS2	23438	HP:0000602	Ophthalmoplegia
OMIM:616138	HARS2	23438	HP:0000218	High palate
OMIM:616138	HARS2	23438	HP:0001265	Hyporeflexia
OMIM:616138	HARS2	23438	HP:0002151	Increased serum lactate
OMIM:616138	HSD17B4	3295	HP:0001251	Ataxia
OMIM:616138	HSD17B4	3295	HP:0000133	Gonadal dysgenesis
OMIM:616138	HSD17B4	3295	HP:0001250	Seizures
OMIM:616138	HSD17B4	3295	HP:0001761	Pes cavus
OMIM:616138	HSD17B4	3295	HP:0000639	Nystagmus
OMIM:616138	HSD17B4	3295	HP:0000786	Primary amenorrhea
OMIM:616138	HSD17B4	3295	HP:0000815	Hypergonadotropic hypogonadism
OMIM:616138	HSD17B4	3295	HP:0003542	Increased serum pyruvate
OMIM:616138	HSD17B4	3295	HP:0000602	Ophthalmoplegia
OMIM:616138	HSD17B4	3295	HP:0000218	High palate
OMIM:616138	HSD17B4	3295	HP:0001265	Hyporeflexia
OMIM:616138	HSD17B4	3295	HP:0002151	Increased serum lactate
